# RGD-PIPELINE: ftp-file-extracts # MODULE: annotations-version-1.1.9 (Oct 10, 2019) # GENERATED-ON: 2024/03/23 # PURPOSE: annotations about active Chinchilla objects extracted from RGD database # ONTOLOGY: RDO: RGD Disease Ontology # CONTACT: rgd.data@mcw.edu # FORMAT: tab delimited text # NOTES: multiple values in a single column are separated by '|' # #COLUMN INFORMATION: # #1 RGD_ID unique RGD_ID of the annotated object #2 OBJECT_SYMBOL official symbol of the annotated object #3 OBJECT_NAME official name of the annotated object #4 OBJECT_TYPE annotated object data type: one of ['gene','qtl','strain'] #5 TERM_ACC_ID ontology term accession id #6 TERM_NAME ontology term name #7 QUALIFIER optional qualifier #8 EVIDENCE evidence #9 WITH with info #10 ASPECT aspect #11 REFERENCES db references (Reference RGDID|PUBMED ID) #12 CREATED_DATE created date #13 ASSIGNED_BY assigned by #14 MESH_OMIM_ID MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only) #15 CURATION_NOTES curation notes provided by RGD curators #16 ORIGINAL_REFERENCE original reference RGD_ID OBJECT_SYMBOL OBJECT_NAME OBJECT_TYPE TERM_ACC_ID TERM_NAME QUALIFIER EVIDENCE WITH ASPECT REFERENCES CREATED_DATE ASSIGNED_BY MESH_OMIM_ID CURATION_NOTES ORIGINAL_REFERENCE 10061771 Jmjd7 jumonji domain containing 7 gene DOID:2717 Bloom syndrome ISO RGD:2298734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 10061771 Jmjd7 jumonji domain containing 7 gene DOID:630 genetic disease ISO RGD:2298734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10061771 Jmjd7 jumonji domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:2298734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 10064458 Gas1 growth arrest specific 1 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1345993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:20583177|PMID:21842183 10064458 Gas1 growth arrest specific 1 gene DOID:4621 holoprosencephaly ISO RGD:1345993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17525797 10064458 Gas1 growth arrest specific 1 gene DOID:630 genetic disease ISO RGD:1345993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10066165 Znf283 zinc finger protein 283 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1354182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 10066165 Znf283 zinc finger protein 283 gene DOID:5419 schizophrenia ISO RGD:1354182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10066165 Znf283 zinc finger protein 283 gene DOID:630 genetic disease ISO RGD:1354182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1347775 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:0080545 hyper IgE syndrome ISO RGD:1347775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:14722525|PMID:16199547|PMID:17576681|PMID:19776401|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22476911|PMID:23380217|PMID:23859592|PMID:24797421|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26680607|PMID:27980540|PMID:28492532|PMID:33290277|PMID:9536098 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1347775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS PMID:14722525|PMID:16199547|PMID:17576681|PMID:19776401|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22476911|PMID:23380217|PMID:23859592|PMID:24797421|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26680607|PMID:27980540|PMID:28492532|PMID:33290277|PMID:9536098 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:5419 schizophrenia ISO RGD:1347775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:627 severe combined immunodeficiency ISO RGD:1347775 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25724123|PMID:27891178|PMID:29930340|PMID:30697212|PMID:32888943 10072529 Dock8-as1 DOCK8 antisense RNA 1 gene DOID:630 genetic disease ISO RGD:1347775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10073884 Zbed10 Putative protein ZBED10P gene DOID:630 genetic disease ISO RGD:1321295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10076501 C1qtnf8 C1q and TNF related 8 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1345449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 10076501 C1qtnf8 C1q and TNF related 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345449 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 10076501 C1qtnf8 C1q and TNF related 8 gene DOID:1826 epilepsy ISO RGD:1345449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 10076501 C1qtnf8 C1q and TNF related 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 10076501 C1qtnf8 C1q and TNF related 8 gene DOID:630 genetic disease ISO RGD:1345449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:0112087 nuclear type mitochondrial complex I deficiency 23 ISO RGD:1603389 D RGD:7240710 20190315 OMIM 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:0112087 nuclear type mitochondrial complex I deficiency 23 ISO RGD:1603389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 PMID:21617257|PMID:25741868|PMID:28454995|PMID:28492532|PMID:32341820|PMID:33715266|PMID:35141356 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:3652 Leigh disease ISO RGD:1603389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532|PMID:35141356 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:630 genetic disease ISO RGD:1603389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10080999 Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:35141356 10081585 Sprr4 small proline rich protein 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 10081585 Sprr4 small proline rich protein 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 10081585 Sprr4 small proline rich protein 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 10081585 Sprr4 small proline rich protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10081585 Sprr4 small proline rich protein 4 gene DOID:5812 MHC class II deficiency ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 10081585 Sprr4 small proline rich protein 4 gene DOID:630 genetic disease ISO RGD:1350265 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10081585 Sprr4 small proline rich protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:2308876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:0050476 Barth syndrome ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:2308876 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:11372 megacolon ISO RGD:2308876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:12849 autistic disorder ISO RGD:2308876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:13628 favism ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:2308876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:607 paraplegia ISO RGD:2308876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:630 genetic disease ISO RGD:2308876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10082211 Cmc4 C-X9-C motif containing 4 gene DOID:9002720 Splenomegaly ISO RGD:2308876 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 10082678 Cdc20 cell division cycle 20 gene DOID:0080600 COVID-19 ISO RGD:731833 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10082678 Cdc20 cell division cycle 20 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 10082678 Cdc20 cell division cycle 20 gene DOID:630 genetic disease ISO RGD:731833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10082678 Cdc20 cell division cycle 20 gene DOID:684 hepatocellular carcinoma ISO RGD:731833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 10082678 Cdc20 cell division cycle 20 gene DOID:9007104 Oocyte/Zygote/Embryo Maturation Arrest 14 ISO RGD:731833 D RGD:7240710 20230505 OMIM 10082678 Cdc20 cell division cycle 20 gene DOID:9007104 Oocyte/Zygote/Embryo Maturation Arrest 14 ISO RGD:731833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 14 PMID:32666501|PMID:33683667|PMID:33898437|PMID:34218387 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1322529 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:0112309 central precocious puberty 2 ISO RGD:1322529 D RGD:7240710 20180130 OMIM 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:0112309 central precocious puberty 2 ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Precocious puberty, central, 2 PMID:23738509|PMID:25741868|PMID:26431553|PMID:28672280 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:11983 Prader-Willi syndrome ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:12849 autistic disorder ISO RGD:1322529 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:1932 Angelman syndrome ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:5419 schizophrenia ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:630 genetic disease ISO RGD:1322529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10082705 Mkrn3 makorin ring finger protein 3 gene DOID:9007284 Precocious Puberty ISO RGD:1322529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23738509 10083655 Adrb1 adrenoceptor beta 1 gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:731289 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism: :p.R389G (human) PMID:20948559|REF_RGD_ID:4145102 10083655 Adrb1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:2059 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:19060223|REF_RGD_ID:5129127 10083655 Adrb1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673262|PMID:9260993 10083655 Adrb1 adrenoceptor beta 1 gene DOID:10763 hypertension ISO RGD:731289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:20398560|REF_RGD_ID:7241549 10083655 Adrb1 adrenoceptor beta 1 gene DOID:11664 nephrosclerosis disease_progression ISO RGD:731289 D RGD:9068941 20200609 RGD associated with hypertension;DNA:missense mutations, haplotype:cds:p.S49G(rs1801252),p.R389G (rs1801253)(human): PMID:19745105|REF_RGD_ID:7241815 10083655 Adrb1 adrenoceptor beta 1 gene DOID:1287 cardiovascular system disease ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11436944 10083655 Adrb1 adrenoceptor beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:18287209|REF_RGD_ID:5129132 10083655 Adrb1 adrenoceptor beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 10083655 Adrb1 adrenoceptor beta 1 gene DOID:12932 endomyocardial fibrosis ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14502278 10083655 Adrb1 adrenoceptor beta 1 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:731289 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R389G(human) PMID:16785856|REF_RGD_ID:8548468 10083655 Adrb1 adrenoceptor beta 1 gene DOID:1485 cystic fibrosis ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:20203292|REF_RGD_ID:5129107 10083655 Adrb1 adrenoceptor beta 1 gene DOID:1591 renovascular hypertension ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:15592645|PMID:17278011|REF_RGD_ID:7241568|REF_RGD_ID:7241580 10083655 Adrb1 adrenoceptor beta 1 gene DOID:1712 aortic valve stenosis ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:1648674|REF_RGD_ID:7241565 10083655 Adrb1 adrenoceptor beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to PMID:10212248|PMID:12374873|PMID:16844790|PMID:17496726 10083655 Adrb1 adrenoceptor beta 1 gene DOID:4195 hyperglycemia ISO RGD:2059 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart PMID:21831645|REF_RGD_ID:6893641 10083655 Adrb1 adrenoceptor beta 1 gene DOID:5844 myocardial infarction ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:17143192|REF_RGD_ID:7241557 10083655 Adrb1 adrenoceptor beta 1 gene DOID:6000 congestive heart failure ISO RGD:731289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure and beta-blocker response, modifier of PMID:10212248|PMID:12374873|PMID:16844790|PMID:17496726 10083655 Adrb1 adrenoceptor beta 1 gene DOID:630 genetic disease ISO RGD:731289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10083655 Adrb1 adrenoceptor beta 1 gene DOID:824 periodontitis ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:18275933|REF_RGD_ID:5129135 10083655 Adrb1 adrenoceptor beta 1 gene DOID:824 periodontitis ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:21958237|REF_RGD_ID:7241545 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9000483 Angina Pectoris ISO RGD:731289 D RGD:9068941 20200609 RGD PMID:11527135|REF_RGD_ID:5129114 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2059 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19785950|REF_RGD_ID:5129118 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9002211 Hyperalgesia ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:19283893|REF_RGD_ID:5129125 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9003996 Birth Weight ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:20451506|REF_RGD_ID:5129116 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:17143192|REF_RGD_ID:7241557 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731289 D RGD:9068941 20200609 RGD protein:decreased expression:left ventricle: PMID:8181801|REF_RGD_ID:7241563 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2059 D RGD:9068941 20200609 RGD protein:decreased expression:left ventricle muscular part PMID:21054861|REF_RGD_ID:5129115 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9006450 Familial Natural Short Sleep 2 ISO RGD:731289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SHORT SLEEP, FAMILIAL NATURAL, 2 PMID:31473062 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9007039 Ventricular Dysfunction ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14502278 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9007278 Anaphylaxis disease_progression ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:20959119|REF_RGD_ID:6893644 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:17201736|REF_RGD_ID:5129149 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10900253 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9009039 Hyperemia ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17345787 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9351 diabetes mellitus ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18378355 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2059 D RGD:9068941 20200609 RGD PMID:21491159|REF_RGD_ID:6893642 10083655 Adrb1 adrenoceptor beta 1 gene DOID:9970 obesity ISO RGD:731289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12032746 10084575 Gng8 G protein subunit gamma 8 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:735730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 10084575 Gng8 G protein subunit gamma 8 gene DOID:0110644 long QT syndrome 1 ISO RGD:735730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 10084575 Gng8 G protein subunit gamma 8 gene DOID:409 liver disease ISO RGD:735730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 10084575 Gng8 G protein subunit gamma 8 gene DOID:630 genetic disease ISO RGD:735730 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10084596 Foxd1 forkhead box D1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 10084596 Foxd1 forkhead box D1 gene DOID:630 genetic disease ISO RGD:1343882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10084596 Foxd1 forkhead box D1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10085659 Bend5 BEN domain containing 5 gene DOID:10283 prostate cancer ISO RGD:1606228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 10085659 Bend5 BEN domain containing 5 gene DOID:630 genetic disease ISO RGD:1606228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10086815 Kiaa0040 KIAA0040 ortholog gene DOID:1540 parathyroid carcinoma ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10086815 Kiaa0040 KIAA0040 ortholog gene DOID:3755 antithrombin III deficiency ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 10086815 Kiaa0040 KIAA0040 ortholog gene DOID:630 genetic disease ISO RGD:2290033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10086815 Kiaa0040 KIAA0040 ortholog gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 10086815 Kiaa0040 KIAA0040 ortholog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2290033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10088056 Prr16 proline rich 16 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10088056 Prr16 proline rich 16 gene DOID:630 genetic disease ISO RGD:1602486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10088056 Prr16 proline rich 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10088056 Prr16 proline rich 16 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602486 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10089213 Znf579 zinc finger protein 579 gene DOID:630 genetic disease ISO RGD:1318265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10090446 Tmem177 transmembrane protein 177 gene DOID:630 genetic disease ISO RGD:1606772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10090455 Nkx3-2 NK3 homeobox 2 gene DOID:630 genetic disease ISO RGD:1353604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10090455 Nkx3-2 NK3 homeobox 2 gene DOID:65 connective tissue disease ISO RGD:1353604 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10090455 Nkx3-2 NK3 homeobox 2 gene DOID:9008170 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia ISO RGD:1353604 D RGD:7240710 20180130 OMIM 10090455 Nkx3-2 NK3 homeobox 2 gene DOID:9008170 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia ISO RGD:1353604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia PMID:20004766|PMID:25741868|PMID:28492532|PMID:29704686 10090462 A1bg alpha-1-B glycoprotein gene DOID:5419 schizophrenia ISO RGD:69466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 10090462 A1bg alpha-1-B glycoprotein gene DOID:630 genetic disease ISO RGD:69466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10090462 A1bg alpha-1-B glycoprotein gene DOID:9005369 Hepatomegaly ISO RGD:69466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 10092336 Lrp12 LDL receptor related protein 12 gene DOID:0081297 oculopharyngodistal myopathy 1 ISO RGD:1312675 D RGD:7240710 20200722 OMIM 10092336 Lrp12 LDL receptor related protein 12 gene DOID:0081297 oculopharyngodistal myopathy 1 ISO RGD:1312675 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculopharyngodistal myopathy 1 PMID:25741868 10092336 Lrp12 LDL receptor related protein 12 gene DOID:0081382 amyotrophic lateral sclerosis type 28 ISO RGD:1312675 D RGD:7240710 20230809 OMIM 10092336 Lrp12 LDL receptor related protein 12 gene DOID:0111590 Cohen syndrome ISO RGD:1312675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 10092336 Lrp12 LDL receptor related protein 12 gene DOID:11719 oculopharyngeal muscular dystrophy ISO RGD:1312675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31332380 10092336 Lrp12 LDL receptor related protein 12 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1312675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 10092336 Lrp12 LDL receptor related protein 12 gene DOID:630 genetic disease ISO RGD:1312675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10093894 Plvap plasmalemma vesicle associated protein gene DOID:630 genetic disease ISO RGD:1353643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10093894 Plvap plasmalemma vesicle associated protein gene DOID:684 hepatocellular carcinoma ISO RGD:1353643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 10093894 Plvap plasmalemma vesicle associated protein gene DOID:9008956 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE ISO RGD:1353643 D RGD:7240710 20190315 OMIM 10093894 Plvap plasmalemma vesicle associated protein gene DOID:9008956 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE ISO RGD:1353643 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Diarrhea 10, protein-losing enteropathy type PMID:25741868|PMID:26207260|PMID:29661969|PMID:29875123 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:1969 cerebral palsy ISO RGD:1605945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1605945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:9001543 Combined Oxidative Phosphorylation Deficiency 58 ISO RGD:1605945 D RGD:7240710 20230802 OMIM 10093904 Tefm transcription elongation factor, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1605945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 10098298 Gpr27 G protein-coupled receptor 27 gene DOID:1790 malignant mesothelioma ISO RGD:733557 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 10098298 Gpr27 G protein-coupled receptor 27 gene DOID:630 genetic disease ISO RGD:733557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:0050771 pheochromocytoma ISO RGD:61984 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:17102098|REF_RGD_ID:1599780 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:2340 craniosynostosis ISO RGD:735357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:3068 glioblastoma ISO RGD:735357 D RGD:9068941 20200609 RGD DNA:deletion PMID:9288095|REF_RGD_ID:1599778 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:630 genetic disease ISO RGD:735357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 10099434 Dmbt1 deleted in malignant brain tumors 1 gene DOID:9007971 Nose Neoplasms ISO RGD:61984 D RGD:9068941 20200609 RGD mRNA, Protein:increased expression PMID:12419858|REF_RGD_ID:1599782 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:0111940 immunodeficiency 42 ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:3563711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:1540 parathyroid carcinoma ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:5812 MHC class II deficiency ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:630 genetic disease ISO RGD:3563711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10101754 C2cd4d C2 calcium dependent domain containing 4D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3563711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:0050700 cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:736471 D RGD:9068941 20220825 MouseDO 10102463 Ctf1 cardiotrophin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11058912|PMID:24033266|PMID:26084686|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 10102463 Ctf1 cardiotrophin 1 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1350898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:10763 hypertension ISO RGD:1350898 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15716706|REF_RGD_ID:1626411 10102463 Ctf1 cardiotrophin 1 gene DOID:10763 hypertension ISO RGD:2442 D RGD:9068941 20200917 RGD mRNA:increased expression:cardiac ventricle PMID:8604995|REF_RGD_ID:69823 10102463 Ctf1 cardiotrophin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11058912|PMID:24033266|PMID:25741868|PMID:27149842|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350898 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11058912|PMID:24033266|PMID:25741868|PMID:26084686|PMID:27149842|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:557 kidney disease ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23335628 10102463 Ctf1 cardiotrophin 1 gene DOID:630 genetic disease ISO RGD:1350898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10102463 Ctf1 cardiotrophin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 10102463 Ctf1 cardiotrophin 1 gene DOID:9003936 Cardiomegaly ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400235|PMID:19100119 10102463 Ctf1 cardiotrophin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350898 D RGD:9068941 20200917 RGD associated with hypertension;protein:increased expression:plasma PMID:15716706|REF_RGD_ID:1626411 10102463 Ctf1 cardiotrophin 1 gene DOID:9005749 Necrosis ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23335628 10102463 Ctf1 cardiotrophin 1 gene DOID:9006024 Hypotension ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304496 10102463 Ctf1 cardiotrophin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 10102463 Ctf1 cardiotrophin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736471 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 10102463 Ctf1 cardiotrophin 1 gene DOID:9970 obesity ISO RGD:1350898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21803294 10103913 Iqcj IQ motif containing J gene DOID:630 genetic disease ISO RGD:1605141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10104730 Defb135 defensin beta 135 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2307454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 10104730 Defb135 defensin beta 135 gene DOID:630 genetic disease ISO RGD:2307454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10104730 Defb135 defensin beta 135 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2307454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10105215 Znf488 zinc finger protein 488 gene DOID:5419 schizophrenia ISO RGD:1320391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10105215 Znf488 zinc finger protein 488 gene DOID:630 genetic disease ISO RGD:1320391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10105221 Tmem259 transmembrane protein 259 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1322435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 10105221 Tmem259 transmembrane protein 259 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1322435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 10105221 Tmem259 transmembrane protein 259 gene DOID:5339 cyclic hematopoiesis ISO RGD:1322435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 10105221 Tmem259 transmembrane protein 259 gene DOID:630 genetic disease ISO RGD:1322435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10108911 Trnp1 TMF1 regulated nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1601688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10110121 Hhla2 HHLA2 member of B7 family gene DOID:630 genetic disease ISO RGD:1350112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10114792 Ftmt ferritin mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10114792 Ftmt ferritin mitochondrial gene DOID:630 genetic disease ISO RGD:1348564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10114792 Ftmt ferritin mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10114792 Ftmt ferritin mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10122869 Atp5me ATP synthase membrane subunit e gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1350783 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:22334370|PMID:25741868|PMID:27588261|PMID:28492532|PMID:8394174|PMID:8595886 10122869 Atp5me ATP synthase membrane subunit e gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1350783 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 10122869 Atp5me ATP synthase membrane subunit e gene DOID:10584 retinitis pigmentosa ISO RGD:1350783 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22334370|PMID:25741868|PMID:27588261|PMID:28492532|PMID:8394174|PMID:8595886 10122869 Atp5me ATP synthase membrane subunit e gene DOID:114 heart disease ISO RGD:1350783 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 10122869 Atp5me ATP synthase membrane subunit e gene DOID:1856 cherubism ISO RGD:1350783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 10122869 Atp5me ATP synthase membrane subunit e gene DOID:630 genetic disease ISO RGD:1350783 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10122869 Atp5me ATP synthase membrane subunit e gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1350783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 10128260 Kctd14 potassium channel tetramerization domain containing 14 gene DOID:1059 intellectual disability ISO RGD:1315042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10128260 Kctd14 potassium channel tetramerization domain containing 14 gene DOID:630 genetic disease ISO RGD:1315042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10129557 Mrps28 mitochondrial ribosomal protein S28 gene DOID:0112114 combined oxidative phosphorylation deficiency 47 ISO RGD:1313591 D RGD:7240710 20200812 OMIM 10129557 Mrps28 mitochondrial ribosomal protein S28 gene DOID:0112114 combined oxidative phosphorylation deficiency 47 ISO RGD:1313591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 47 PMID:30566640 10129557 Mrps28 mitochondrial ribosomal protein S28 gene DOID:630 genetic disease ISO RGD:1313591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10129557 Mrps28 mitochondrial ribosomal protein S28 gene DOID:9008939 Breast Neoplasms ISO RGD:1313591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 10131090 Tmem129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:1856 cherubism ISO RGD:1606992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 10131090 Tmem129 transmembrane protein 129, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1606992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10131559 Plin4 perilipin 4 gene DOID:13938 amenorrhea ISO RGD:1347657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 10131559 Plin4 perilipin 4 gene DOID:630 genetic disease ISO RGD:1347657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10131559 Plin4 perilipin 4 gene DOID:9005244 Vacuolar Neuromyopathy ISO RGD:1347657 D RGD:7240710 20230802 OMIM 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:1059 intellectual disability ISO RGD:1317566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25167861|PMID:32197073 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:630 genetic disease ISO RGD:1317566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:9001712 Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities ISO RGD:1317566 D RGD:7240710 20200812 OMIM 10132159 Nova2 NOVA alternative splicing regulator 2 gene DOID:9001712 Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities ISO RGD:1317566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities PMID:25167861|PMID:25741868|PMID:32197073 10133507 Defb136 defensin beta 136 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2307453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 10133507 Defb136 defensin beta 136 gene DOID:630 genetic disease ISO RGD:2307453 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10133507 Defb136 defensin beta 136 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2307453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:13636 Fanconi anemia ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17436244|PMID:28492532 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:14175 von Hippel-Lindau disease ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25741868 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1352437 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 10135390 Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1352437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:630 genetic disease ISO RGD:1352913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 10139980 Uhrf1 ubiquitin like with PHD and ring finger domains 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:1332040 D RGD:9068941 20200609 RGD PMID:20442318|REF_RGD_ID:9587430 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0050646 distal arthrogryposis ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis PMID:12592607|PMID:17101001|PMID:17194691|PMID:25741868 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0080000 muscular disease ISO RGD:1344978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19628585 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0080773 delta beta-thalassemia ISO RGD:1344978 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:1344978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1344978 D RGD:7240710 20180130 OMIM 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1344978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:12592607|PMID:17101001|PMID:17194691|PMID:23401156|PMID:23850728|PMID:25340332|PMID:25741868|PMID:26526134|PMID:27790376|PMID:28492532 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0111969 immunodeficiency 39 ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:630 genetic disease ISO RGD:1344978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10140531 Tnni2 troponin I2, fast skeletal type gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1344978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 10141913 Serpina10 serpin family A member 10 gene DOID:0080054 achondrogenesis type IA ISO RGD:1353693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 10141913 Serpina10 serpin family A member 10 gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:1353693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities PMID:15461625|PMID:18710385|PMID:22039093|PMID:23352160|PMID:25741868 10141913 Serpina10 serpin family A member 10 gene DOID:0081063 DICER1 syndrome ISO RGD:1353693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 10141913 Serpina10 serpin family A member 10 gene DOID:2452 thrombophilia ISO RGD:1353693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15461625 10141913 Serpina10 serpin family A member 10 gene DOID:2452 thrombophilia ISO RGD:1353693 D RGD:9068941 20200609 RGD DNA:nonsense mutations, missense mutations:cds:multiple (human) PMID:15461625|REF_RGD_ID:1580104 10141913 Serpina10 serpin family A member 10 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1353693 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 10141913 Serpina10 serpin family A member 10 gene DOID:630 genetic disease ISO RGD:1353693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10141913 Serpina10 serpin family A member 10 gene DOID:9003871 Venous Thrombosis ISO RGD:1353693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Venous thrombosis, susceptibility to PMID:15461625 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1320178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmetria 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1320178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1320178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 10154021 Ahnak2 AHNAK nucleoprotein 2 gene DOID:630 genetic disease ISO RGD:1320178 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24675079 10156530 Znf358 zinc finger protein 358 gene DOID:0080490 mucolipidosis type IV ISO RGD:1321306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 10156530 Znf358 zinc finger protein 358 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1321306 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 10156530 Znf358 zinc finger protein 358 gene DOID:630 genetic disease ISO RGD:1321306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10156556 Ptma prothymosin alpha gene DOID:0060476 Perlman syndrome ISO RGD:733876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 10156556 Ptma prothymosin alpha gene DOID:0110991 Joubert syndrome 22 ISO RGD:733876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 10156556 Ptma prothymosin alpha gene DOID:3247 rhabdomyosarcoma ISO RGD:733876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16669873 10156556 Ptma prothymosin alpha gene DOID:630 genetic disease ISO RGD:733876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10156556 Ptma prothymosin alpha gene DOID:657 adenoma ISO RGD:733876 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10822126 10156556 Ptma prothymosin alpha gene DOID:9005172 Lung Neoplasms ISO RGD:733876 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10822126 10156556 Ptma prothymosin alpha gene DOID:9452 steatotic liver disease ISO RGD:733876 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15885234 10158207 Mchr2 melanin concentrating hormone receptor 2 gene DOID:630 genetic disease ISO RGD:1347761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10162655 LOC106150206 olfactory receptor 10R2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10162655 LOC106150206 olfactory receptor 10R2 gene DOID:630 genetic disease ISO RGD:1354093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10162655 LOC106150206 olfactory receptor 10R2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10164058 Gpr62 G protein-coupled receptor 62 gene DOID:630 genetic disease ISO RGD:1351718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10170186 Rasl11a RAS like family 11 member A gene DOID:289 endometriosis ISO RGD:1343885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 10170186 Rasl11a RAS like family 11 member A gene DOID:630 genetic disease ISO RGD:1343885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10170186 Rasl11a RAS like family 11 member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224643 10170936 B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1320043 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 64 PMID:25741868 10170936 B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:630 genetic disease ISO RGD:1320043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10170936 B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 gene DOID:9004538 Hearing Loss ISO RGD:1320043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 10173859 Foxe1 forkhead box E1 gene DOID:0050328 congenital hypothyroidism ISO RGD:735500 D RGD:9068941 20220825 MouseDO 10173859 Foxe1 forkhead box E1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 10173859 Foxe1 forkhead box E1 gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:735499 D RGD:7240710 20180130 OMIM 10173859 Foxe1 forkhead box E1 gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:735499 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Bamforth-Lazarus syndrome PMID:12165566|PMID:16882747|PMID:21177256|PMID:25381600|PMID:25741868|PMID:28444304|PMID:28492532|PMID:2918525|PMID:32428920|PMID:35963604|PMID:9697705 10173859 Foxe1 forkhead box E1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 10173859 Foxe1 forkhead box E1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 10173859 Foxe1 forkhead box E1 gene DOID:1059 intellectual disability ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10173859 Foxe1 forkhead box E1 gene DOID:12712 nephronophthisis ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 10173859 Foxe1 forkhead box E1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 10173859 Foxe1 forkhead box E1 gene DOID:630 genetic disease ISO RGD:735499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10173859 Foxe1 forkhead box E1 gene DOID:9001793 Generalized Epilepsy ISO RGD:735499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 10173859 Foxe1 forkhead box E1 gene DOID:9003422 Thyroid Cancer, Nonmedullary, 4 ISO RGD:735499 D RGD:7240710 20180418 OMIM 10173859 Foxe1 forkhead box E1 gene DOID:9003422 Thyroid Cancer, Nonmedullary, 4 ISO RGD:735499 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 4 PMID:25381600|PMID:25741868|PMID:28444304|PMID:32428920 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:0050439 Usher syndrome ISO RGD:1605938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:0080600 COVID-19 ISO RGD:1605938 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1605938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:630 genetic disease ISO RGD:1605938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:9006949 Martsolf Syndrome ISO RGD:1605938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 10178222 CUNH1orf115 chromosome unknown C1orf115 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10178916 Znf214 zinc finger protein 214 gene DOID:630 genetic disease ISO RGD:1349128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:10652 Alzheimer's disease ISO RGD:1344180 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1344180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 10179767 Ccdc6 coiled-coil domain containing 6 gene DOID:630 genetic disease ISO RGD:1344180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10182818 Ppp2r3b protein phosphatase 2 regulatory subunit B''beta gene DOID:12849 autistic disorder ISO RGD:1604626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10184969 Tma7 translation machinery associated 7 homolog gene DOID:630 genetic disease ISO RGD:1605384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10184969 Tma7 translation machinery associated 7 homolog gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 10187399 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:0080600 COVID-19 ISO RGD:1604369 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10187399 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1604369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10187399 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1604369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 10187399 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:543 dystonia ISO RGD:1604369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 10187399 Zbtb32 zinc finger and BTB domain containing 32 gene DOID:630 genetic disease ISO RGD:1604369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10197077 Rrs1 ribosome biogenesis regulator 1 homolog gene DOID:3910 lung adenocarcinoma ISO RGD:1322847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 10197077 Rrs1 ribosome biogenesis regulator 1 homolog gene DOID:630 genetic disease ISO RGD:1322847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10197077 Rrs1 ribosome biogenesis regulator 1 homolog gene DOID:9006205 Animal Disease Models ISO RGD:1322847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 10200077 Prss8 serine protease 8 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:730926 D RGD:9068941 20220825 MouseDO OMIM:242500 10200077 Prss8 serine protease 8 gene DOID:0080074 neural tube defect ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24722141 10200077 Prss8 serine protease 8 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:730925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 10200077 Prss8 serine protease 8 gene DOID:2394 ovarian cancer ISO RGD:730925 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11584061|REF_RGD_ID:2292486 10200077 Prss8 serine protease 8 gene DOID:3459 breast carcinoma ISO RGD:730925 D RGD:9068941 20200609 RGD PMID:11774283|REF_RGD_ID:2292485 10200077 Prss8 serine protease 8 gene DOID:37 skin disease ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22705055 10200077 Prss8 serine protease 8 gene DOID:630 genetic disease ISO RGD:730925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10200077 Prss8 serine protease 8 gene DOID:780 placenta disease ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24722141 10200077 Prss8 serine protease 8 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:730925 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:12518323|REF_RGD_ID:2292484 10200077 Prss8 serine protease 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730925 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:decreased expression:prostate gland, bone PMID:12518323|REF_RGD_ID:2292484 10200077 Prss8 serine protease 8 gene DOID:9001984 Fetal Diseases ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22705055 10200077 Prss8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16541421 10200077 Prss8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730925 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:12518323|REF_RGD_ID:2292484 10200077 Prss8 serine protease 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:730925 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:11173941|REF_RGD_ID:2292487 10200077 Prss8 serine protease 8 gene DOID:9007023 Prenatal Injuries ISO RGD:730925 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24722141 10200077 Prss8 serine protease 8 gene DOID:987 alopecia ISO RGD:619973 D RGD:9068941 20211022 RGD DNA:deletion:cds:exon 3 (rat) PMID:20201958|REF_RGD_ID:150520038 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1604527 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1604527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:630 genetic disease ISO RGD:1604527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604527 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10201643 Spata31g1 SPATA31 subfamily G member 1 gene DOID:9870 galactosemia ISO RGD:1604527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 10202549 Fam174c family with sequence similarity 174 member C gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1346714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 10202549 Fam174c family with sequence similarity 174 member C gene DOID:5339 cyclic hematopoiesis ISO RGD:1346714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 10208797 Znf599 zinc finger protein 599 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 10208797 Znf599 zinc finger protein 599 gene DOID:630 genetic disease ISO RGD:1603572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10210341 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:630 genetic disease ISO RGD:1602450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10210341 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 10210341 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 10210341 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:9006205 Animal Disease Models ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 10210341 Ctu1 cytosolic thiouridylase subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1602450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 10211058 Sox17 SRY-box transcription factor 17 gene DOID:10941 intracranial aneurysm ISO RGD:1313358 D RGD:9068941 20230615 RGD protein:decreased expression:middle cerebral artery (human) PMID:25596186|REF_RGD_ID:329853324 10211058 Sox17 SRY-box transcription factor 17 gene DOID:10941 intracranial aneurysm no_association ISO RGD:1313358 D RGD:9068941 20230720 RGD DNA:SNP:enhancer: (rs10958409) (human) PMID:31250579|REF_RGD_ID:329955568 10211058 Sox17 SRY-box transcription factor 17 gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1313358 D RGD:9068941 20230713 RGD DNA:SNP:enhancer: (rs1072737) (human) PMID:22961961|PMID:29191544|PMID:31040677|REF_RGD_ID:329853325|REF_RGD_ID:329853736|REF_RGD_ID:329955463 10211058 Sox17 SRY-box transcription factor 17 gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1313358 D RGD:9068941 20230720 RGD DNA:SNP:enhancer: (rs10958409) (human) PMID:18997786|PMID:20364137|REF_RGD_ID:329955465|REF_RGD_ID:329955569 10211058 Sox17 SRY-box transcription factor 17 gene DOID:11561 hypertensive retinopathy treatment ISO RGD:1313359 D RGD:9068941 20230615 RGD PMID:36200131|REF_RGD_ID:329853320 10211058 Sox17 SRY-box transcription factor 17 gene DOID:13608 biliary atresia ISO RGD:1313359 D RGD:9068941 20220825 MouseDO 10211058 Sox17 SRY-box transcription factor 17 gene DOID:13832 patent ductus arteriosus ISO RGD:1313358 D RGD:9068941 20230615 RGD DNA:nonsense mutation:CDS:p.E185* (human) PMID:33794346|REF_RGD_ID:329853328 10211058 Sox17 SRY-box transcription factor 17 gene DOID:14557 primary pulmonary hypertension ISO RGD:1313358 D RGD:9068941 20230615 RGD protein:decreased expression:pulmonary artery (human) PMID:36919784|REF_RGD_ID:329853737 10211058 Sox17 SRY-box transcription factor 17 gene DOID:4947 cholangiocarcinoma severity ISO RGD:1305371 D RGD:9068941 20200609 RGD PMID:20816680|REF_RGD_ID:4889598 10211058 Sox17 SRY-box transcription factor 17 gene DOID:630 genetic disease ISO RGD:1313358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10211058 Sox17 SRY-box transcription factor 17 gene DOID:6432 pulmonary hypertension ISO RGD:1305371 D RGD:9068941 20230615 RGD protein:decreased expression:lung (rat) PMID:36913491|REF_RGD_ID:329853317 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313358 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9001820 Pulmonary Arterial Hypertension onset ISO RGD:1313358 D RGD:9068941 20230615 RGD DNA:frameshift mutations, missense mutations, SNP:CDS, intron:multiple (human) PMID:29650961|REF_RGD_ID:329853735 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9001820 Pulmonary Arterial Hypertension susceptibility ISO RGD:1313358 D RGD:9068941 20230713 RGD DNA:SNPs:enhancers: (rs10103692, rs13266183) (human) PMID:30527955|REF_RGD_ID:329955464 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9004716 Vesicoureteral Reflux 3 ISO RGD:1313358 D RGD:7240710 20180130 OMIM 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9004716 Vesicoureteral Reflux 3 ISO RGD:1313358 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SOX17-related condition | ClinVar Annotator: match by term: Vesicoureteral reflux 3 PMID:20960469|PMID:25741868|PMID:28492532 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:1313359 D RGD:9068941 20230615 RGD protein:decreased expression:pulmonary artery endothelium (mouse) PMID:36919784|REF_RGD_ID:329853737 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced exacerbates ISO RGD:1313359 D RGD:9068941 20230615 RGD PMID:36205124|PMID:36913491|PMID:37066790|REF_RGD_ID:329853316|REF_RGD_ID:329853317|REF_RGD_ID:329853734 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9007337 Teratogenesis ISO RGD:1313358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24154490 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413743 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1313358 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension 10211058 Sox17 SRY-box transcription factor 17 gene DOID:9620 vesicoureteral reflux ISO RGD:1313358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:25741868 10212608 Fam220a family with sequence similarity 220 member A gene DOID:630 genetic disease ISO RGD:1606484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10212720 Haus8 HAUS augmin like complex subunit 8 gene DOID:630 genetic disease ISO RGD:1604254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1321311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:630 genetic disease ISO RGD:1321311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10215893 Nipsnap1 nipsnap homolog 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 10218927 Rcvrn recoverin gene DOID:0080719 congenital myopathy 6 ISO RGD:734065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 10218927 Rcvrn recoverin gene DOID:630 genetic disease ISO RGD:734065 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:0080600 COVID-19 ISO RGD:1353948 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:11372 megacolon ISO RGD:1353948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:12365 malaria ISO RGD:1353948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, severe, susceptibility to PMID:17208487 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:12365 malaria susceptibility ISO RGD:1353948 D RGD:7240710 20190502 OMIM 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:1883 hepatitis C disease_progression ISO RGD:1353948 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:630 genetic disease ISO RGD:1353948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1353948 D RGD:9068941 20201117 RGD protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) PMID:27382604|REF_RGD_ID:40818276 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353948 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:20550548|REF_RGD_ID:40818079 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353948 D RGD:9068941 20201118 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:23813131|REF_RGD_ID:40818297 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1353948 D RGD:9068941 20201106 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:21168454|REF_RGD_ID:40400738 10222039 Ncr3 natural cytotoxicity triggering receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353948 D RGD:9068941 20201118 RGD PMID:16322112|PMID:21695691|REF_RGD_ID:40818295|REF_RGD_ID:40818296 10222175 Tmem262 transmembrane protein 262 gene DOID:630 genetic disease ISO RGD:7409565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10225368 Klk1 kallikrein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1349866 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15117887|REF_RGD_ID:1641802 10225368 Klk1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14568997 10225368 Klk1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 10225368 Klk1 kallikrein 1 gene DOID:10763 hypertension ISO RGD:2969 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15809361|REF_RGD_ID:1358144 10225368 Klk1 kallikrein 1 gene DOID:10763 hypertension no_association ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:15167446|REF_RGD_ID:1581751 10225368 Klk1 kallikrein 1 gene DOID:10763 hypertension susceptibility ISO RGD:1349866 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:15905889|REF_RGD_ID:1641795 10225368 Klk1 kallikrein 1 gene DOID:3021 acute kidney failure ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18227104 10225368 Klk1 kallikrein 1 gene DOID:4989 pancreatitis ISO RGD:2969 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12770935|REF_RGD_ID:1641805 10225368 Klk1 kallikrein 1 gene DOID:5844 myocardial infarction ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12411458 10225368 Klk1 kallikrein 1 gene DOID:5844 myocardial infarction ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17022964|REF_RGD_ID:1641799 10225368 Klk1 kallikrein 1 gene DOID:630 genetic disease ISO RGD:1349866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10225368 Klk1 kallikrein 1 gene DOID:783 end stage renal disease ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:11849458|REF_RGD_ID:1581753 10225368 Klk1 kallikrein 1 gene DOID:784 chronic kidney disease susceptibility ISO RGD:1349866 D RGD:9068941 20200609 RGD associated with Vesico-Ureteral Reflux PMID:15086490|REF_RGD_ID:1581752 10225368 Klk1 kallikrein 1 gene DOID:9000784 Fibrosis ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18227104 10225368 Klk1 kallikrein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19516248 10225368 Klk1 kallikrein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 10225368 Klk1 kallikrein 1 gene DOID:9003936 Cardiomegaly ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17137568|REF_RGD_ID:1641797 10225368 Klk1 kallikrein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2969 D RGD:9068941 20200609 RGD PMID:12746231|REF_RGD_ID:1641806 10225368 Klk1 kallikrein 1 gene DOID:9004915 Decreased Urinary Activity of Kallikrein ISO RGD:1349866 D RGD:7240710 20180130 OMIM 10225368 Klk1 kallikrein 1 gene DOID:9004915 Decreased Urinary Activity of Kallikrein ISO RGD:1349866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kallikrein, decreased urinary activity of PMID:11912256|PMID:15765151 10225368 Klk1 kallikrein 1 gene DOID:9005372 Inflammation ISO RGD:2969 D RGD:9068941 20200609 RGD PMID:17015177|REF_RGD_ID:1641800 10225368 Klk1 kallikrein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2969 D RGD:9068941 20200609 RGD mRNA:decreased expression:myocardium PMID:10604522|REF_RGD_ID:1641812 10225368 Klk1 kallikrein 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1349866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16129698 10225368 Klk1 kallikrein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1349866 D RGD:9068941 20200609 RGD PMID:17272402|REF_RGD_ID:1641794 10226339 Rnasek ribonuclease K gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 10226339 Rnasek ribonuclease K gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 10226339 Rnasek ribonuclease K gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604138 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 10226339 Rnasek ribonuclease K gene DOID:12177 common variable immunodeficiency ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 10226339 Rnasek ribonuclease K gene DOID:2729 dyskeratosis congenita ISO RGD:1604138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 10226339 Rnasek ribonuclease K gene DOID:630 genetic disease ISO RGD:1604138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10227157 CUNH11orf98 chromosome unknown C11orf98 homolog gene DOID:630 genetic disease ISO RGD:9587562 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10228599 Pdcd7 programmed cell death 7 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1319039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 10228599 Pdcd7 programmed cell death 7 gene DOID:2717 Bloom syndrome ISO RGD:1319039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 10228599 Pdcd7 programmed cell death 7 gene DOID:630 genetic disease ISO RGD:1319039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10228599 Pdcd7 programmed cell death 7 gene DOID:9256 colorectal cancer ISO RGD:1319039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 10230964 CUNH19orf84 chromosome unknown C19orf84 homolog gene DOID:0080600 COVID-19 ISO RGD:7778770 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10230964 CUNH19orf84 chromosome unknown C19orf84 homolog gene DOID:630 genetic disease ISO RGD:7778770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10231715 LOC106146871 testis-specific H1 histone gene DOID:630 genetic disease ISO RGD:1604474 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10234109 Slfnl1 schlafen like 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 10234109 Slfnl1 schlafen like 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1603541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:28492532 10234109 Slfnl1 schlafen like 1 gene DOID:630 genetic disease ISO RGD:1603541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10235799 Ntng2 netrin G2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 10235799 Ntng2 netrin G2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 10235799 Ntng2 netrin G2 gene DOID:3312 bipolar disorder ISO RGD:1316073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 10235799 Ntng2 netrin G2 gene DOID:5419 schizophrenia ISO RGD:1316073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 10235799 Ntng2 netrin G2 gene DOID:630 genetic disease ISO RGD:1316073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10235799 Ntng2 netrin G2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language PMID:25741868|PMID:31668703 10235799 Ntng2 netrin G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31668703 10235799 Ntng2 netrin G2 gene DOID:9006418 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA ISO RGD:1316073 D RGD:7240710 20200115 OMIM 10235799 Ntng2 netrin G2 gene DOID:9006418 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia PMID:25741868|PMID:31372774|PMID:31668703|PMID:31692205 10235799 Ntng2 netrin G2 gene DOID:9006534 Nervous System Malformations ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 10235799 Ntng2 netrin G2 gene DOID:9008086 Developmental Disabilities ISO RGD:1316073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31372774|PMID:31692205 10235799 Ntng2 netrin G2 gene DOID:9009239 Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay ISO RGD:1316073 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay PMID:25741868 10251142 Ndufc1 NADH:ubiquinone oxidoreductase subunit C1 gene DOID:630 genetic disease ISO RGD:1353150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10254371 Apoc4 apolipoprotein C4 gene DOID:630 genetic disease ISO RGD:736043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10254371 Apoc4 apolipoprotein C4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736043 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 10254376 Shisa7 shisa family member 7 gene DOID:630 genetic disease ISO RGD:3160565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10255180 Proser2 proline and serine rich 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 10255180 Proser2 proline and serine rich 2 gene DOID:630 genetic disease ISO RGD:1351835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:0080773 delta beta-thalassemia ISO RGD:1349201 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:0111969 immunodeficiency 39 ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:630 genetic disease ISO RGD:1349201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10256792 Polr2l RNA polymerase II, I and III subunit L gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1349201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 10259547 Hapstr2 HUWE1 associated protein modifying stress responses 2 gene DOID:12849 autistic disorder ISO RGD:38668552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10262063 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10262063 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:630 genetic disease ISO RGD:1317755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10262063 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10262063 Zcchc10 zinc finger CCHC-type containing 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10265533 Prima1 proline rich membrane anchor 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1315672 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:17576681|PMID:25741868|PMID:26339676|PMID:26467025|PMID:28492532|PMID:9536098 10265533 Prima1 proline rich membrane anchor 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 10265533 Prima1 proline rich membrane anchor 1 gene DOID:0081063 DICER1 syndrome ISO RGD:1315672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 10265533 Prima1 proline rich membrane anchor 1 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1315672 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 10265533 Prima1 proline rich membrane anchor 1 gene DOID:630 genetic disease ISO RGD:1315672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10265533 Prima1 proline rich membrane anchor 1 gene DOID:9884 muscular dystrophy ISO RGD:1315672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 10265739 Rab5c RAB5C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1316083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10266413 Zbtb38 zinc finger and BTB domain containing 38 gene DOID:630 genetic disease ISO RGD:1603531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10266430 Znf567 zinc finger protein 567 gene DOID:630 genetic disease ISO RGD:1346041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10266440 Spmip2 sperm microtubule inner protein 2 gene DOID:630 genetic disease ISO RGD:1602179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10269103 Znf713 zinc finger protein 713 gene DOID:12849 autistic disorder ISO RGD:1605220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10269103 Znf713 zinc finger protein 713 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 10269103 Znf713 zinc finger protein 713 gene DOID:630 genetic disease ISO RGD:1605220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:5508531 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0110994 Joubert syndrome 25 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0111934 immunodeficiency 38 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:0111935 immunodeficiency 16 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:630 genetic disease ISO RGD:5508531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:5508531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 10275255 Ankrd65 ankyrin repeat domain 65 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:5508531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 10276227 Snurf SNRPN upstream open reading frame gene DOID:0060041 autism spectrum disorder ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:28492532 10276227 Snurf SNRPN upstream open reading frame gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736038 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 10276227 Snurf SNRPN upstream open reading frame gene DOID:11983 Prader-Willi syndrome ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 10276227 Snurf SNRPN upstream open reading frame gene DOID:12849 autistic disorder ISO RGD:736038 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 10276227 Snurf SNRPN upstream open reading frame gene DOID:1932 Angelman syndrome ISO RGD:736038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 10276227 Snurf SNRPN upstream open reading frame gene DOID:5419 schizophrenia ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10276227 Snurf SNRPN upstream open reading frame gene DOID:630 genetic disease ISO RGD:736038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10276227 Snurf SNRPN upstream open reading frame gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10277301 Chst13 carbohydrate sulfotransferase 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1347829 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 10277301 Chst13 carbohydrate sulfotransferase 13 gene DOID:0080600 COVID-19 ISO RGD:1347829 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10277301 Chst13 carbohydrate sulfotransferase 13 gene DOID:630 genetic disease ISO RGD:1347829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10277301 Chst13 carbohydrate sulfotransferase 13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 10277301 Chst13 carbohydrate sulfotransferase 13 gene DOID:9270 alkaptonuria ISO RGD:1347829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:17576681|PMID:19656777|PMID:22924778|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:28492532|PMID:9536098 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0050593 primary congenital glaucoma ISO RGD:68549 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma PMID:25741868 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0060305 megalocornea ISO RGD:68549 D RGD:9068941 20230309 RGD associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human) PMID:22025892|REF_RGD_ID:156451371 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:23218701|PMID:23401661|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1059 intellectual disability ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1068 juvenile glaucoma ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:24033266 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1070 primary open angle glaucoma ISO RGD:68549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:23401661|PMID:25741868|PMID:26425313|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:11211 buphthalmos ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A PMID:19656777 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:68380 D RGD:9068941 20230309 RGD PMID:31512380|REF_RGD_ID:156431214 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:13641 exfoliation syndrome ISO RGD:68549 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pseudoexfoliation glaucoma PMID:23401661|PMID:25741868|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:14199 posterior dislocation of lens ISO RGD:68550 D RGD:9068941 20230309 RGD PMID:24908666|REF_RGD_ID:156451375 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:14323 Marfan syndrome ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1686 glaucoma ISO RGD:68549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19361779|PMID:27149523 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:1909 melanoma ISO RGD:68549 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:6000 congestive heart failure ISO RGD:68549 D RGD:9068941 20230309 RGD associated with dyspnea;protein:increased expression:plasma (human) PMID:22587491|REF_RGD_ID:156451376 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:6000 congestive heart failure ISO RGD:68549 D RGD:9068941 20230323 RGD mRNA:increased expression:heart (human) PMID:32478206|REF_RGD_ID:213230162 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:630 genetic disease ISO RGD:68549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:68380 D RGD:9068941 20230309 RGD associated with Pulmonary Arterial Hypertension;mRNA:increased expression:heart right ventricle (rat) PMID:30213070|REF_RGD_ID:156451373 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9001251 Microspherophakia ISO RGD:68549 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microspherophakia PMID:19361779|PMID:19656777|PMID:20179738|PMID:20617341|PMID:21081970|PMID:22025892|PMID:25741868|PMID:27409795|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 PMID:22539340 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:68550 D RGD:9068941 20230309 RGD mRNA:increased expression:heart (mouse) PMID:29950403|REF_RGD_ID:156451654 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:7240710 20180130 OMIM 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003580 Primary Congenital Glaucoma 3, D ISO RGD:68549 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, D PMID:17576681|PMID:19361779|PMID:19656777|PMID:20179738|PMID:21081970|PMID:22025892|PMID:22924778|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:27409795|PMID:28492532|PMID:9536098 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:68550 D RGD:9068941 20230323 RGD mRNA:increased expression:heart (mouse) PMID:29510080|REF_RGD_ID:213230163 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9004201 Ectopia Lentis ISO RGD:68550 D RGD:9068941 20230309 RGD PMID:33039488|REF_RGD_ID:156431213 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9006438 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma ISO RGD:68549 D RGD:7240710 20180130 OMIM 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9006438 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma ISO RGD:68549 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma PMID:19361779|PMID:19656777|PMID:20179738|PMID:21081970|PMID:22025892|PMID:25741868|PMID:28492532 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:68549 D RGD:9068941 20230309 RGD mRNA:increased expression:myocardium (human) PMID:17343875|REF_RGD_ID:156451374 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:68549 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B PMID:16199547|PMID:17576681|PMID:19361779|PMID:22025892|PMID:23401661|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:68550 D RGD:9068941 20230323 RGD mRNA:increased expression:heart (mouse) PMID:31364721|REF_RGD_ID:213230159 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007248 Weill-Marchesani Syndrome 3 ISO RGD:68549 D RGD:7240710 20180130 OMIM 10278425 Ltbp2 latent transforming growth factor beta binding protein 2 gene DOID:9007248 Weill-Marchesani Syndrome 3 ISO RGD:68549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 3 PMID:22539340|PMID:23401661|PMID:25741868|PMID:28492532 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:0070176 spermatogenic failure 4 ISO RGD:733070 D RGD:7240710 20180130 OMIM 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:0070176 spermatogenic failure 4 ISO RGD:733070 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 PMID:14643120|PMID:19110213|PMID:25741868|PMID:28492532|PMID:28801929|PMID:29713536 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:0111910 spermatogenic failure ISO RGD:733070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:12336 male infertility ISO RGD:733070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:14227 azoospermia ISO RGD:11368 D RGD:9068941 20221103 MouseDO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:14227 azoospermia ISO RGD:733070 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:14643120 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:630 genetic disease ISO RGD:733070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10280215 Sycp3 synaptonemal complex protein 3 gene DOID:9007479 Habitual Abortions ISO RGD:733070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19110213 10281399 CUNH11orf97 chromosome unknown C11orf97 homolog gene DOID:630 genetic disease ISO RGD:7821812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080600 COVID-19 ISO RGD:1604512 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0110658 congenital myasthenic syndrome 15 ISO RGD:1604512 D RGD:7240710 20180130 OMIM 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0110658 congenital myasthenic syndrome 15 ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 15 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 15, without tubular aggregates PMID:16199547|PMID:17576681|PMID:23404334|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28733338|PMID:33751823|PMID:9536098 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:630 genetic disease ISO RGD:1604512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:28733338|PMID:9536098 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9003980 Myopathy, Epilepsy, and Progressive Cerebral Atrophy ISO RGD:1604512 D RGD:7240710 20201021 OMIM 10285507 Alg14 ALG14 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9003980 Myopathy, Epilepsy, and Progressive Cerebral Atrophy ISO RGD:1604512 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Myopathy, epilepsy, and progressive cerebral atrophy PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28733338|PMID:33751823|PMID:9536098 10287539 Il17d interleukin 17D gene DOID:0081312 T-cell non-Hodgkin lymphoma severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 10287539 Il17d interleukin 17D gene DOID:0110253 cataract 14 multiple types ISO RGD:1348652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 10287539 Il17d interleukin 17D gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1348652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 10287539 Il17d interleukin 17D gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 10287539 Il17d interleukin 17D gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 10287539 Il17d interleukin 17D gene DOID:11573 listeriosis severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 10287539 Il17d interleukin 17D gene DOID:14693 Clouston syndrome ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 10287539 Il17d interleukin 17D gene DOID:1909 melanoma severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31244826|REF_RGD_ID:40903065 10287539 Il17d interleukin 17D gene DOID:2121 ectodermal dysplasia ISO RGD:1348652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 10287539 Il17d interleukin 17D gene DOID:2280 hidradenitis suppurativa sexual_dimorphism ISO RGD:1348652 D RGD:9068941 20210625 RGD mRNA:increased expression:apocrine gland (human) PMID:32031713|REF_RGD_ID:40903066 10287539 Il17d interleukin 17D gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:1348652 D RGD:9068941 20210108 RGD Protein:increased expression:blood plasma (human) PMID:28592538|REF_RGD_ID:40903074 10287539 Il17d interleukin 17D gene DOID:630 genetic disease ISO RGD:1348652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10287539 Il17d interleukin 17D gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1348652 D RGD:9068941 20210108 RGD associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human) PMID:27875997|REF_RGD_ID:40903073 10287539 Il17d interleukin 17D gene DOID:9004484 Sepsis severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31634237|REF_RGD_ID:40903064 10287539 Il17d interleukin 17D gene DOID:9004484 Sepsis treatment ISO RGD:1348652 D RGD:9068941 20210108 RGD protein:increased expression:blood serum (human) PMID:31634237|REF_RGD_ID:40903064 10287539 Il17d interleukin 17D gene DOID:9004484 Sepsis treatment ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:31634237|REF_RGD_ID:40903064 10287539 Il17d interleukin 17D gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:1558575 D RGD:9068941 20210108 RGD PMID:30209334|REF_RGD_ID:40903063 10288224 Znf41 zinc finger protein 41 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1346984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 10288224 Znf41 zinc finger protein 41 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 10288224 Znf41 zinc finger protein 41 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 10288224 Znf41 zinc finger protein 41 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 10288224 Znf41 zinc finger protein 41 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 10288224 Znf41 zinc finger protein 41 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1346984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 10288224 Znf41 zinc finger protein 41 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1346984 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 10288224 Znf41 zinc finger protein 41 gene DOID:12849 autistic disorder ISO RGD:1346984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10288224 Znf41 zinc finger protein 41 gene DOID:1561 cognitive disorder ISO RGD:1346984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14628291 10288224 Znf41 zinc finger protein 41 gene DOID:630 genetic disease ISO RGD:1346984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10288224 Znf41 zinc finger protein 41 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1346984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14628291 10288224 Znf41 zinc finger protein 41 gene DOID:9008086 Developmental Disabilities ISO RGD:1346984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 10289125 Tspan18 tetraspanin 18 gene DOID:1059 intellectual disability ISO RGD:1605907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10289125 Tspan18 tetraspanin 18 gene DOID:5419 schizophrenia ISO RGD:1605907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 10289125 Tspan18 tetraspanin 18 gene DOID:630 genetic disease ISO RGD:1605907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10291915 Defb134 defensin beta 134 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2302256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 10291915 Defb134 defensin beta 134 gene DOID:630 genetic disease ISO RGD:2302256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10291915 Defb134 defensin beta 134 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10295339 Icam4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) gene DOID:630 genetic disease ISO RGD:1319054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10297441 Dennd5b DENN domain containing 5B gene DOID:630 genetic disease ISO RGD:1605273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10299366 Znf398 zinc finger protein 398 gene DOID:630 genetic disease ISO RGD:1345407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10300641 Fads1 fatty acid desaturase 1 gene DOID:0080600 COVID-19 ISO RGD:1344024 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10300641 Fads1 fatty acid desaturase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 10300641 Fads1 fatty acid desaturase 1 gene DOID:1059 intellectual disability ISO RGD:1344024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10300641 Fads1 fatty acid desaturase 1 gene DOID:10763 hypertension ISO RGD:621678 D RGD:9068941 20200609 RGD PMID:12144877|REF_RGD_ID:1625415 10300641 Fads1 fatty acid desaturase 1 gene DOID:6000 congestive heart failure treatment ISO RGD:621678 D RGD:9068941 20231214 RGD PMID:22796714|REF_RGD_ID:401901592 10300641 Fads1 fatty acid desaturase 1 gene DOID:630 genetic disease ISO RGD:1344024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10300641 Fads1 fatty acid desaturase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 10300641 Fads1 fatty acid desaturase 1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:621678 D RGD:9068941 20231214 RGD PMID:22796714|REF_RGD_ID:401901592 10300641 Fads1 fatty acid desaturase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621678 D RGD:9068941 20200609 RGD PMID:16099631|REF_RGD_ID:1625413 10300641 Fads1 fatty acid desaturase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 10300641 Fads1 fatty acid desaturase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 10300641 Fads1 fatty acid desaturase 1 gene DOID:9970 obesity ISO RGD:621678 D RGD:9068941 20200609 RGD protein:decreased expression:microsomes, liver PMID:8446010|REF_RGD_ID:1625421 10304093 Svip small VCP interacting protein gene DOID:1059 intellectual disability ISO RGD:2306136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10304093 Svip small VCP interacting protein gene DOID:630 genetic disease ISO RGD:2306136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10304104 Cdr1 cerebellar degeneration related 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 10304104 Cdr1 cerebellar degeneration related 1 gene DOID:12849 autistic disorder ISO RGD:1345930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10304104 Cdr1 cerebellar degeneration related 1 gene DOID:630 genetic disease ISO RGD:1345930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10308184 Fbn3 fibrillin 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1350241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 10308184 Fbn3 fibrillin 3 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1350241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 10308184 Fbn3 fibrillin 3 gene DOID:12849 autistic disorder ISO RGD:1350241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10308184 Fbn3 fibrillin 3 gene DOID:630 genetic disease ISO RGD:1350241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10308184 Fbn3 fibrillin 3 gene DOID:9006836 Contracture ISO RGD:1350241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 10308939 Rsc1a1 regulator of solute carriers 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 10308939 Rsc1a1 regulator of solute carriers 1 gene DOID:630 genetic disease ISO RGD:1349878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10308939 Rsc1a1 regulator of solute carriers 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1349878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 10308939 Rsc1a1 regulator of solute carriers 1 gene DOID:9970 obesity ISO RGD:1615861 D RGD:9068941 20220825 MouseDO OMIM:601665 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1320221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1320221 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 10309212 Abhd16b abhydrolase domain containing 16B gene DOID:630 genetic disease ISO RGD:1320221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10312353 Gng5 G protein subunit gamma 5 gene DOID:630 genetic disease ISO RGD:737441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10312353 Gng5 G protein subunit gamma 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315252 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090139 cortisone reductase deficiency ISO RGD:1315252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090139 cortisone reductase deficiency ISO RGD:1315252 D RGD:9068941 20200609 RGD DNA:point mutation:CDS:p.R453Q (human) PMID:12858176|REF_RGD_ID:1625067 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090141 cortisone reductase deficiency 1 ISO RGD:1315252 D RGD:7240710 20180802 OMIM 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:0090141 cortisone reductase deficiency 1 ISO RGD:1315252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortisone reductase deficiency 1 PMID:10522997|PMID:11150889|PMID:12858176|PMID:15827106|PMID:16091483|PMID:16356929|PMID:16817821|PMID:17062770|PMID:18628520|PMID:25741868|PMID:28492532 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:2377 multiple sclerosis ISO RGD:1315252 D RGD:9068941 20200609 RGD DNA:SNP:exon: rs17368528 (human) PMID:19935835|REF_RGD_ID:6784513 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:630 genetic disease ISO RGD:1315252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306562 D RGD:9068941 20200609 RGD PMID:20923496|REF_RGD_ID:6784507 10314245 H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase gene DOID:9008939 Breast Neoplasms ISO RGD:1315252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295867 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:0110980 Joubert syndrome 1 ISO RGD:736781 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:12849 autistic disorder ISO RGD:736781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:9002304 Prostatic Neoplasms ISO RGD:736781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17916567 10316752 Tmsb4x thymosin beta 4 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10317829 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:0050436 mulibrey nanism ISO RGD:1316064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:21681106 10317829 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1316064 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 10317829 Ska2 spindle and kinetochore associated complex subunit 2 gene DOID:630 genetic disease ISO RGD:1316064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10320437 Fam171a2 family with sequence similarity 171 member A2 gene DOID:630 genetic disease ISO RGD:2298821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10322056 Sox4 SRY-box transcription factor 4 gene DOID:0060058 lymphoma ISO RGD:1319855 D RGD:9068941 20200609 RGD PMID:15231650|REF_RGD_ID:1581305 10322056 Sox4 SRY-box transcription factor 4 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1319854 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:25741868 10322056 Sox4 SRY-box transcription factor 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 10322056 Sox4 SRY-box transcription factor 4 gene DOID:0112371 Coffin-Siris syndrome 10 ISO RGD:1319854 D RGD:7240710 20190731 OMIM 10322056 Sox4 SRY-box transcription factor 4 gene DOID:0112371 Coffin-Siris syndrome 10 ISO RGD:1319854 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 10 PMID:25741868|PMID:30661772|PMID:35232796|PMID:35887114 10322056 Sox4 SRY-box transcription factor 4 gene DOID:1059 intellectual disability ISO RGD:1319854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:30661772 10322056 Sox4 SRY-box transcription factor 4 gene DOID:11054 urinary bladder cancer ISO RGD:1319854 D RGD:9068941 20200609 RGD PMID:16585165|REF_RGD_ID:1581304 10322056 Sox4 SRY-box transcription factor 4 gene DOID:114 heart disease ISO RGD:1319855 D RGD:9068941 20200609 RGD PMID:9815146|REF_RGD_ID:1581306 10322056 Sox4 SRY-box transcription factor 4 gene DOID:1923 disorder of sexual development ISO RGD:1319854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 10322056 Sox4 SRY-box transcription factor 4 gene DOID:3459 breast carcinoma ISO RGD:1319854 D RGD:9068941 20220728 RGD protein:increased expression:breast PMID:29882245|REF_RGD_ID:153297792 10322056 Sox4 SRY-box transcription factor 4 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1319854 D RGD:9068941 20220728 RGD PMID:16052521|REF_RGD_ID:153297793 10322056 Sox4 SRY-box transcription factor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1319854 D RGD:9068941 20220728 RGD protein:increased expression:lung PMID:29882245|REF_RGD_ID:153297792 10322056 Sox4 SRY-box transcription factor 4 gene DOID:6000 congestive heart failure ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 10322056 Sox4 SRY-box transcription factor 4 gene DOID:630 genetic disease ISO RGD:1319854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9001041 Asphyxia ISO RGD:1309488 D RGD:9068941 20200609 RGD PMID:12011571|REF_RGD_ID:1581119 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9003936 Cardiomegaly ISO RGD:1319854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 10322056 Sox4 SRY-box transcription factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10323072 Ct55 cancer/testis antigen 55 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 10323072 Ct55 cancer/testis antigen 55 gene DOID:12849 autistic disorder ISO RGD:1353544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10323072 Ct55 cancer/testis antigen 55 gene DOID:630 genetic disease ISO RGD:1353544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10323072 Ct55 cancer/testis antigen 55 gene DOID:9005480 X-Linked Spermatogenic Failure 7 ISO RGD:1353544 D RGD:7240710 20230505 OMIM 10323072 Ct55 cancer/testis antigen 55 gene DOID:9005480 X-Linked Spermatogenic Failure 7 ISO RGD:1353544 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 7 PMID:36481789 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050476 Barth syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050781 Ogden syndrome ISO RGD:1349422 D RGD:7240710 20180130 OMIM 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050781 Ogden syndrome ISO RGD:1349422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ogden syndrome PMID:18414213|PMID:21700266|PMID:23020937|PMID:25099252|PMID:25326635|PMID:25489052|PMID:25741868|PMID:26522270|PMID:27094817|PMID:28327206|PMID:28492532|PMID:28708303|PMID:29558889|PMID:29957440|PMID:31127942|PMID:31174490|PMID:34200686|PMID:35039925 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1349422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1349422 D RGD:7240710 20180130 OMIM 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1349422 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 1 PMID:11426460|PMID:16114045|PMID:1679229|PMID:24033266|PMID:24431331|PMID:25741868|PMID:28492532|PMID:30842225 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349422 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:0112003 immunodeficiency 33 ISO RGD:1349422 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:10588 adrenoleukodystrophy ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1349422 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:24033266|PMID:25741868|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:34200686|PMID:35039925 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:13628 favism ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:2729 dyskeratosis congenita ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:3910 lung adenocarcinoma ISO RGD:1349422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:607 paraplegia ISO RGD:1349422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:630 genetic disease ISO RGD:1349422 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27094817|PMID:28492532|PMID:31127942|PMID:31174490|PMID:34200686 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9002720 Splenomegaly ISO RGD:1349422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1349422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 10329823 Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit gene DOID:9006205 Animal Disease Models ISO RGD:1349422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 10332444 Taf9 TATA-box binding protein associated factor 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1314621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 10332444 Taf9 TATA-box binding protein associated factor 9 gene DOID:630 genetic disease ISO RGD:1314621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10332444 Taf9 TATA-box binding protein associated factor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10332758 Lsm11 LSM11, U7 small nuclear RNA associated gene DOID:630 genetic disease ISO RGD:1354131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10332758 Lsm11 LSM11, U7 small nuclear RNA associated gene DOID:9001117 Aicardi-Goutieres Syndrome 8 ISO RGD:1354131 D RGD:7240710 20210825 OMIM 10332758 Lsm11 LSM11, U7 small nuclear RNA associated gene DOID:9001117 Aicardi-Goutieres Syndrome 8 ISO RGD:1354131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 PMID:33230297 10335251 Tlr9 toll like receptor 9 gene DOID:0050127 sinusitis ISO RGD:1346715 D RGD:9068941 20200609 RGD Acute Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human) PMID:18416964|REF_RGD_ID:5130708 10335251 Tlr9 toll like receptor 9 gene DOID:0050127 sinusitis ISO RGD:1346715 D RGD:9068941 20200609 RGD Chronic Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human) PMID:17283572|REF_RGD_ID:5130870 10335251 Tlr9 toll like receptor 9 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17686871|REF_RGD_ID:7794851 10335251 Tlr9 toll like receptor 9 gene DOID:0080162 lupus nephritis ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese) PMID:20497632|REF_RGD_ID:7246884 10335251 Tlr9 toll like receptor 9 gene DOID:0080162 lupus nephritis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (human) PMID:19578108|REF_RGD_ID:7246896 10335251 Tlr9 toll like receptor 9 gene DOID:0080162 lupus nephritis ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:23467932|REF_RGD_ID:7245987 10335251 Tlr9 toll like receptor 9 gene DOID:0080162 lupus nephritis no_association ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian) PMID:22787315|REF_RGD_ID:7245989 10335251 Tlr9 toll like receptor 9 gene DOID:0080162 lupus nephritis severity ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:17469139|REF_RGD_ID:7246911 10335251 Tlr9 toll like receptor 9 gene DOID:0080162 lupus nephritis treatment ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease PMID:21127878|REF_RGD_ID:7246897 10335251 Tlr9 toll like receptor 9 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human, mouse) PMID:28687713|REF_RGD_ID:18337289 10335251 Tlr9 toll like receptor 9 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human, mouse) PMID:28687713|REF_RGD_ID:18337289 10335251 Tlr9 toll like receptor 9 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis disease_progression ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:serum, liver (mouse) PMID:24650018|REF_RGD_ID:18337469 10335251 Tlr9 toll like receptor 9 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1346715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 10335251 Tlr9 toll like receptor 9 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (rat) PMID:18376319|REF_RGD_ID:5130184 10335251 Tlr9 toll like receptor 9 gene DOID:10113 trypanosomiasis ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:18565585|REF_RGD_ID:18337478 10335251 Tlr9 toll like receptor 9 gene DOID:10223 dermatomyositis ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle PMID:19953283|REF_RGD_ID:7794747 10335251 Tlr9 toll like receptor 9 gene DOID:10457 Legionnaires' disease ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:18426877|REF_RGD_ID:5130707 10335251 Tlr9 toll like receptor 9 gene DOID:10533 viral pneumonia ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C rs5743836 (human) PMID:19539691|REF_RGD_ID:5130766 10335251 Tlr9 toll like receptor 9 gene DOID:10690 mastitis resistance ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland (rat) PMID:17321466|REF_RGD_ID:5130197 10335251 Tlr9 toll like receptor 9 gene DOID:11166 papillomavirus infectious disease resistance ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA:increased expression:cervix epithelium (human) PMID:20473890|REF_RGD_ID:5129102 10335251 Tlr9 toll like receptor 9 gene DOID:11168 anogenital venereal wart ISO RGD:1346715 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 10335251 Tlr9 toll like receptor 9 gene DOID:11204 allergic conjunctivitis ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:conjunctiva: PMID:16023216|REF_RGD_ID:7794849 10335251 Tlr9 toll like receptor 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17925007|REF_RGD_ID:5130709 10335251 Tlr9 toll like receptor 9 gene DOID:12236 primary biliary cholangitis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:liver, peripheral blood mononuclear cell (human) PMID:23026026|REF_RGD_ID:18337477 10335251 Tlr9 toll like receptor 9 gene DOID:1287 cardiovascular system disease ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with kidney transplant; DNA:snp:promoter:g.-1237C>T rs5743836 (human) PMID:20604744|REF_RGD_ID:7246901 10335251 Tlr9 toll like receptor 9 gene DOID:13139 crescentic glomerulonephritis severity ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:20847283|REF_RGD_ID:7246899 10335251 Tlr9 toll like receptor 9 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:18936185|REF_RGD_ID:5130858 10335251 Tlr9 toll like receptor 9 gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) PMID:18275280|REF_RGD_ID:5130863 10335251 Tlr9 toll like receptor 9 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:blood, neutrophil (human) PMID:18433921|REF_RGD_ID:5130706 10335251 Tlr9 toll like receptor 9 gene DOID:1485 cystic fibrosis ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:20837493|REF_RGD_ID:5130208 10335251 Tlr9 toll like receptor 9 gene DOID:1612 breast cancer ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:breast, epithelial cell (human) PMID:18922969|REF_RGD_ID:7246913 10335251 Tlr9 toll like receptor 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1346715 D RGD:9068941 20200609 RGD invasive squamous cell carcinoma of the cervix; mRNA:increased expression:tumor:significantly increased vs normal cervical tissue (p=0.012) PMID:17440926|REF_RGD_ID:2301099 10335251 Tlr9 toll like receptor 9 gene DOID:1883 hepatitis C ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with psoriasis;mRNA:increased expession:skin (human) PMID:27184185|REF_RGD_ID:18337479 10335251 Tlr9 toll like receptor 9 gene DOID:1883 hepatitis C susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with acquired immunodeficiency syndrome;DNA:SNP:exon: (rs352140) (human) PMID:28062211|REF_RGD_ID:18337466 10335251 Tlr9 toll like receptor 9 gene DOID:2043 hepatitis B susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:exon:2848G>A (rs352140) (human) PMID:25388852|REF_RGD_ID:18337480 10335251 Tlr9 toll like receptor 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human) PMID:20227302|REF_RGD_ID:5130722 10335251 Tlr9 toll like receptor 9 gene DOID:2841 asthma ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:20016192|REF_RGD_ID:5129104 10335251 Tlr9 toll like receptor 9 gene DOID:2841 asthma no_association ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C rs5743836 (human) PMID:21324137|REF_RGD_ID:5130712 10335251 Tlr9 toll like receptor 9 gene DOID:2841 asthma severity ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:20072849|REF_RGD_ID:4889523 10335251 Tlr9 toll like receptor 9 gene DOID:2841 asthma susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) PMID:18312481|REF_RGD_ID:4144208 10335251 Tlr9 toll like receptor 9 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 10335251 Tlr9 toll like receptor 9 gene DOID:2957 pulmonary tuberculosis ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19771452|REF_RGD_ID:5130704 10335251 Tlr9 toll like receptor 9 gene DOID:2986 IgA glomerulonephritis ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease; mRNA:increased expression:splenocyte (mouse) PMID:21621468|REF_RGD_ID:7246893 10335251 Tlr9 toll like receptor 9 gene DOID:2986 IgA glomerulonephritis severity ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140) (human) PMID:18776126|REF_RGD_ID:7246889 10335251 Tlr9 toll like receptor 9 gene DOID:2986 IgA glomerulonephritis severity ISO RGD:1549988 D RGD:9068941 20200609 RGD DNA, mRNA:SNP, increased expression:exon, spleen:g.159C>G (mouse) PMID:18776126|REF_RGD_ID:7246889 10335251 Tlr9 toll like receptor 9 gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease PMID:21621468|REF_RGD_ID:7246893 10335251 Tlr9 toll like receptor 9 gene DOID:3021 acute kidney failure ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Sepsis PMID:23548820|REF_RGD_ID:7245966 10335251 Tlr9 toll like receptor 9 gene DOID:3082 interstitial lung disease ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:18633634|REF_RGD_ID:5130206 10335251 Tlr9 toll like receptor 9 gene DOID:3265 chronic granulomatous disease ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:decreased expression:blood, neutrophil (human) PMID:18155283|REF_RGD_ID:5130865 10335251 Tlr9 toll like receptor 9 gene DOID:3770 pulmonary fibrosis ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:18633634|REF_RGD_ID:5130206 10335251 Tlr9 toll like receptor 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:tumor (human) PMID:15631627|REF_RGD_ID:5130185 10335251 Tlr9 toll like receptor 9 gene DOID:4450 renal cell carcinoma severity ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:decreased expression:tumor, cytoplasm (human) PMID:21929816|REF_RGD_ID:7246915 10335251 Tlr9 toll like receptor 9 gene DOID:4481 allergic rhinitis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:decreased expression:nasal mucosa: PMID:22577387|REF_RGD_ID:7800740 10335251 Tlr9 toll like receptor 9 gene DOID:5199 ureteral obstruction ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:21544241|REF_RGD_ID:7246895 10335251 Tlr9 toll like receptor 9 gene DOID:576 proteinuria ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:snp:intron:g.1174A>G rs352139 (human) PMID:22787315|REF_RGD_ID:7245989 10335251 Tlr9 toll like receptor 9 gene DOID:576 proteinuria ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:23467932|REF_RGD_ID:7245987 10335251 Tlr9 toll like receptor 9 gene DOID:630 genetic disease ISO RGD:1346715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10335251 Tlr9 toll like receptor 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24990399 10335251 Tlr9 toll like receptor 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1346715 D RGD:9068941 20200609 RGD protein: increased expression:peripheral blood mononuclear cell (human) PMID:18215354|REF_RGD_ID:18337472 10335251 Tlr9 toll like receptor 9 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1346715 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:24452201|REF_RGD_ID:18337468 10335251 Tlr9 toll like receptor 9 gene DOID:784 chronic kidney disease susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:g.-1237T>C, g.1635G>A (rs5743836, rs352140) (human, Han Chinese) PMID:21908957|REF_RGD_ID:7246887 10335251 Tlr9 toll like receptor 9 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum (rat) PMID:19608731|REF_RGD_ID:5128779 10335251 Tlr9 toll like receptor 9 gene DOID:874 bacterial pneumonia ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:20360853|REF_RGD_ID:5130719 10335251 Tlr9 toll like receptor 9 gene DOID:8778 Crohn's disease ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15236225|PMID:17914947 10335251 Tlr9 toll like receptor 9 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001) PMID:17440926|REF_RGD_ID:2301099 10335251 Tlr9 toll like receptor 9 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 10335251 Tlr9 toll like receptor 9 gene DOID:9000989 Pneumococcal Infections ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17004992|REF_RGD_ID:5130710 10335251 Tlr9 toll like receptor 9 gene DOID:9000998 Brain Injuries ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 10335251 Tlr9 toll like receptor 9 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:gingiva: PMID:21848608|REF_RGD_ID:7794852 10335251 Tlr9 toll like receptor 9 gene DOID:9001295 Achlorhydria ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) PMID:20038537|REF_RGD_ID:5130741 10335251 Tlr9 toll like receptor 9 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 10335251 Tlr9 toll like receptor 9 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17853411|REF_RGD_ID:5130186 10335251 Tlr9 toll like receptor 9 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 10335251 Tlr9 toll like receptor 9 gene DOID:9003036 Oral Lichen Planus ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:oral epithelium: PMID:22672741|REF_RGD_ID:7777153 10335251 Tlr9 toll like receptor 9 gene DOID:9003157 Respiratory Sounds ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1486C>T rs187084 (human) PMID:20085599|REF_RGD_ID:5130731 10335251 Tlr9 toll like receptor 9 gene DOID:9003615 Granuloma, Foreign-Body ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 10335251 Tlr9 toll like receptor 9 gene DOID:9003828 Klebsiella Infections ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:17785831|REF_RGD_ID:5130866 10335251 Tlr9 toll like receptor 9 gene DOID:9003870 Herpes Simplex Encephalitis resistance ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA:increased expression:cheek (rat) PMID:20806060|REF_RGD_ID:5130178 10335251 Tlr9 toll like receptor 9 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:liver, peripheral blood mononuclear cell (human) PMID:23026026|REF_RGD_ID:18337477 10335251 Tlr9 toll like receptor 9 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) PMID:19513613|REF_RGD_ID:18337470 10335251 Tlr9 toll like receptor 9 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD kidney; DNA:snp:exon:g.+2848G>A rs352140 (human, North Indian) PMID:22251233|REF_RGD_ID:7246885 10335251 Tlr9 toll like receptor 9 gene DOID:9004538 Hearing Loss ISO RGD:1346715 D RGD:9068941 20200609 RGD associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human) PMID:22662111|REF_RGD_ID:7800663 10335251 Tlr9 toll like receptor 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:tumor (human) PMID:18763053|REF_RGD_ID:5130705 10335251 Tlr9 toll like receptor 9 gene DOID:9005358 Hypergammaglobulinemia ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:23467932|REF_RGD_ID:7245987 10335251 Tlr9 toll like receptor 9 gene DOID:9005372 Inflammation ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19797157 10335251 Tlr9 toll like receptor 9 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:631352 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple tissues PMID:18434754|REF_RGD_ID:2312677 10335251 Tlr9 toll like receptor 9 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1346715 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24273604 10335251 Tlr9 toll like receptor 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression: blood, neutrophil (human) PMID:26457748|REF_RGD_ID:18337465 10335251 Tlr9 toll like receptor 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:19164858|PMID:23509352|REF_RGD_ID:18337473|REF_RGD_ID:18337476 10335251 Tlr9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein: decreased expression:liver, CD14-positive monocyte (human) PMID:24622882|REF_RGD_ID:18337464 10335251 Tlr9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346715 D RGD:9068941 20200609 RGD protein: increased expression:peripheral blood mononuclear cell (human) PMID:18215354|REF_RGD_ID:18337472 10335251 Tlr9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:27126946|REF_RGD_ID:18337474 10335251 Tlr9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human) PMID:30453064|REF_RGD_ID:18337467 10335251 Tlr9 toll like receptor 9 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1346715 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) PMID:19513613|REF_RGD_ID:18337470 10335251 Tlr9 toll like receptor 9 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1346715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 10335251 Tlr9 toll like receptor 9 gene DOID:9008691 Liver Injury severity ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Hemorrhagic Shock PMID:20577143|REF_RGD_ID:18337475 10335251 Tlr9 toll like receptor 9 gene DOID:9008691 Liver Injury severity ISO RGD:1549988 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury PMID:26361210|REF_RGD_ID:18337471 10335251 Tlr9 toll like receptor 9 gene DOID:9008765 Malarial Anemia susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) PMID:23045477|REF_RGD_ID:11344971 10335251 Tlr9 toll like receptor 9 gene DOID:9074 systemic lupus erythematosus ISO RGD:1549988 D RGD:9068941 20200609 RGD mRNA:increased expression:B lymphocyte (mouse) PMID:21592581|REF_RGD_ID:7246894 10335251 Tlr9 toll like receptor 9 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1549988 D RGD:9068941 20200609 RGD PMID:16973389|REF_RGD_ID:7245988 10335251 Tlr9 toll like receptor 9 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346715 D RGD:9068941 20200609 RGD DNA:snp:exon:c.1635C>T rs352140 (human) PMID:19130296|REF_RGD_ID:5130767 10335251 Tlr9 toll like receptor 9 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1346715 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:20493664|REF_RGD_ID:7794748 10335262 Marveld1 MARVEL domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1353944 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10335262 Marveld1 MARVEL domain containing 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1353944 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31205918 10335262 Marveld1 MARVEL domain containing 1 gene DOID:630 genetic disease ISO RGD:1353944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10336153 Vsig10l2 V-set and immunoglobulin domain containing 10 like 2 gene DOID:5419 schizophrenia ISO RGD:12801887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:10652 Alzheimer's disease ISO RGD:736208 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus CA1 (human) PMID:12391607|REF_RGD_ID:10401229 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:10326 D RGD:9068941 20200609 RGD PMID:23911420|REF_RGD_ID:10401268 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:11573 listeriosis severity ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:17911624|REF_RGD_ID:40903039 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:12858 Huntington's disease ISO RGD:10326 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:14749423|REF_RGD_ID:10401227 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:14262 oral candidiasis susceptibility ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:26317211|REF_RGD_ID:11079756 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:1725 peritoneum cancer severity ISO RGD:10326 D RGD:9068941 20210108 RGD associated with stomach cancer PMID:26514342|REF_RGD_ID:11556383 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:2256 osteochondrodysplasia ISO RGD:10326 D RGD:9068941 20221020 MouseDO 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:2316 brain ischemia ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:299 adenocarcinoma ISO RGD:736208 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:3770 pulmonary fibrosis ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17177178 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:399 tuberculosis ISO RGD:10326 D RGD:9068941 20210108 RGD mRNA:increased expression:lung, spleen (mouse) PMID:28558034|REF_RGD_ID:40903038 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:630 genetic disease ISO RGD:736208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:684 hepatocellular carcinoma ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:684 hepatocellular carcinoma ISO RGD:736208 D RGD:9068941 20210108 RGD mRNA:increased expression:liver (human) PMID:30659195|REF_RGD_ID:40903042 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:7148 rheumatoid arthritis ISO RGD:736208 D RGD:9068941 20200609 RGD protein:increased expression:knee, articular cartilage (human) PMID:19248099|REF_RGD_ID:10401213 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:8398 osteoarthritis susceptibility ISO RGD:10326 D RGD:9068941 20200609 RGD PMID:22095691|REF_RGD_ID:10401214 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9000217 Stomach Neoplasms ISO RGD:736208 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9000784 Fibrosis ISO RGD:736208 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:29266779 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9000918 Disease Progression ISO RGD:736208 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9000998 Brain Injuries ISO RGD:10326 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (mouse) PMID:19833158|REF_RGD_ID:10401206 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9000998 Brain Injuries ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9001371 Eosinophilia ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:24078688|REF_RGD_ID:40903041 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9003936 Cardiomegaly ISO RGD:736208 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:29266779 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9004484 Sepsis ISO RGD:2327 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:11792653|REF_RGD_ID:625506 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9005036 Bacteremia ISO RGD:10326 D RGD:9068941 20210108 RGD associated with alcohol use disorder;mRNA:increased expression:bone marrow (mouse) PMID:28784931|REF_RGD_ID:40903040 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9005372 Inflammation ISO RGD:736208 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:synovial lining cell, nucleus (human) PMID:10370372|REF_RGD_ID:10401215 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9005930 Endotoxemia ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:14659593|REF_RGD_ID:40903034 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9005930 Endotoxemia treatment ISO RGD:2327 D RGD:9068941 20210108 RGD PMID:15192048|REF_RGD_ID:1625687 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:10326 D RGD:9068941 20210108 RGD mRNA,protein:increased expression:cornea (mouse) PMID:23626014|REF_RGD_ID:40903020 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9007346 Cachexia treatment ISO RGD:10326 D RGD:9068941 20210108 RGD PMID:27122162|REF_RGD_ID:40903021 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9007456 Female Infertility ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9008824 Sarcopenia ISO RGD:736208 D RGD:9068941 20200609 RGD mRNA:increased expression:vastus lateralis muscle (human) PMID:15687482|REF_RGD_ID:10401226 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:934 viral infectious disease ISO RGD:10326 D RGD:9068941 20220825 MouseDO 10336166 Cebpb CCAAT enhancer binding protein beta gene DOID:9452 steatotic liver disease ISO RGD:736208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 10337370 Ccni2 cyclin I family member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2290194 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10337370 Ccni2 cyclin I family member 2 gene DOID:630 genetic disease ISO RGD:2290194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10337370 Ccni2 cyclin I family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2290194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10337370 Ccni2 cyclin I family member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2290194 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10340989 Gpr25 G protein-coupled receptor 25 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1323161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 10340989 Gpr25 G protein-coupled receptor 25 gene DOID:1540 parathyroid carcinoma ISO RGD:1323161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10340989 Gpr25 G protein-coupled receptor 25 gene DOID:630 genetic disease ISO RGD:1323161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10340989 Gpr25 G protein-coupled receptor 25 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1323161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 10340989 Gpr25 G protein-coupled receptor 25 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10341818 Smkr1 small lysine rich protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:7204969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 10341818 Smkr1 small lysine rich protein 1 gene DOID:630 genetic disease ISO RGD:7204969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1606281 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606281 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606281 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:1826 epilepsy ISO RGD:1606281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:630 genetic disease ISO RGD:1606281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10342817 Exd3 exonuclease 3'-5' domain containing 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1606281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349365 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349365 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:11335 sarcoidosis ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17949965|REF_RGD_ID:4145494 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:1205 allergic disease ISO RGD:1349365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1349365 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17641031|REF_RGD_ID:4145495 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1349365 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:17898016|REF_RGD_ID:4145612 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:1485 cystic fibrosis ISO RGD:1349365 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neutrophil PMID:18026571|REF_RGD_ID:4145491 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:2799 bronchiolitis obliterans ISO RGD:1349365 D RGD:9068941 20200609 RGD PMID:18785972|REF_RGD_ID:4145604 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:1349365 D RGD:9068941 20200609 RGD PMID:20237293|REF_RGD_ID:4145486 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:733477 D RGD:9068941 20200609 RGD PMID:11160256|PMID:15947487|REF_RGD_ID:4145513|REF_RGD_ID:4145603 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:2841 asthma ISO RGD:733477 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20074456|REF_RGD_ID:4145487 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:3042 allergic contact dermatitis ISO RGD:733477 D RGD:9068941 20200609 RGD PMID:15491423|REF_RGD_ID:1626251 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:3082 interstitial lung disease ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18276722|REF_RGD_ID:4145606 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349365 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion PMID:18684970|REF_RGD_ID:4145489 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:3310 atopic dermatitis ISO RGD:1349365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:3770 pulmonary fibrosis ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19715610|REF_RGD_ID:4145488 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:3770 pulmonary fibrosis ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:4483 rhinitis ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:blood, mononuclear cell PMID:17517104|REF_RGD_ID:4145498 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:20071465|REF_RGD_ID:4145614 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:552 pneumonia ISO RGD:1349365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:552 pneumonia ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:630 genetic disease ISO RGD:1349365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:9001371 Eosinophilia severity ISO RGD:1349365 D RGD:9068941 20200609 RGD associated with Lymphoma, T-Cell PMID:18395252|REF_RGD_ID:11354898 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:733477 D RGD:9068941 20200609 RGD PMID:15466387|REF_RGD_ID:4145515 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:9007417 Pseudomonas Infections ISO RGD:1349365 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:16387607|REF_RGD_ID:4145500 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:9008604 Radiation Pneumonitis ISO RGD:619924 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, alveolar macrophage PMID:15293604|REF_RGD_ID:4145517 10343503 Ccl17 C-C motif chemokine ligand 17 gene DOID:9498 pulmonary eosinophilia ISO RGD:1349365 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:11956056|REF_RGD_ID:4145602 10345881 Card6 caspase recruitment domain family member 6 gene DOID:0080600 COVID-19 ISO RGD:1314062 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10345881 Card6 caspase recruitment domain family member 6 gene DOID:630 genetic disease ISO RGD:1314062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10345881 Card6 caspase recruitment domain family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10347018 Phgr1 proline, histidine and glycine rich 1 gene DOID:2717 Bloom syndrome ISO RGD:3398935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 10347018 Phgr1 proline, histidine and glycine rich 1 gene DOID:630 genetic disease ISO RGD:3398935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10347018 Phgr1 proline, histidine and glycine rich 1 gene DOID:9256 colorectal cancer ISO RGD:3398935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 10348906 Foxq1 forkhead box Q1 gene DOID:630 genetic disease ISO RGD:732997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10348906 Foxq1 forkhead box Q1 gene DOID:9008939 Breast Neoplasms ISO RGD:732997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27129776 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:10316 pneumoconiosis ISO RGD:1344226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:1826 epilepsy ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:630 genetic disease ISO RGD:1344226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:9007991 Hereditary Angioedema 8 ISO RGD:1344226 D RGD:7240710 20210811 OMIM 10353052 Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 gene DOID:9007991 Hereditary Angioedema 8 ISO RGD:1344226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 8 PMID:33508266 10355889 Ltc4s leukotriene C4 synthase gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:733491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 10355889 Ltc4s leukotriene C4 synthase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733491 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 10355889 Ltc4s leukotriene C4 synthase gene DOID:0060500 drug allergy ISO RGD:733491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16433794 10355889 Ltc4s leukotriene C4 synthase gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 10355889 Ltc4s leukotriene C4 synthase gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:733491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10970818|PMID:20485159|PMID:9393345|PMID:9466979 10355889 Ltc4s leukotriene C4 synthase gene DOID:10754 otitis media IEP D RGD:11553910|PMID:20433028 20161017 RGD 10355889 Ltc4s leukotriene C4 synthase gene DOID:14748 Sotos syndrome ISO RGD:733491 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 10355889 Ltc4s leukotriene C4 synthase gene DOID:2921 glomerulonephritis ISO RGD:620677 D RGD:9068941 20200609 RGD protein:altered activity:kidney, cortex (rat) PMID:7827126|REF_RGD_ID:2316641 10355889 Ltc4s leukotriene C4 synthase gene DOID:574 peripheral nervous system disease ISO RGD:620677 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord dorsal horn (rat) PMID:19908283|REF_RGD_ID:2316612 10355889 Ltc4s leukotriene C4 synthase gene DOID:630 genetic disease ISO RGD:733491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10355889 Ltc4s leukotriene C4 synthase gene DOID:9002023 Leukotriene C4 Synthase Deficiency ISO RGD:733491 D RGD:7240710 20180130 OMIM 10355889 Ltc4s leukotriene C4 synthase gene DOID:9002023 Leukotriene C4 Synthase Deficiency ISO RGD:733491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukotriene c4 synthase deficiency PMID:25741868 10355889 Ltc4s leukotriene C4 synthase gene DOID:9004590 Acute Liver Failure ISO RGD:620677 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:18461660|REF_RGD_ID:2302283 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:2303430 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 10356953 Cracd capping protein inhibiting regulator of actin dynamics gene DOID:630 genetic disease ISO RGD:2303430 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10358960 Znf772 zinc finger protein 772 gene DOID:10283 prostate cancer ISO RGD:1606077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 10358960 Znf772 zinc finger protein 772 gene DOID:630 genetic disease ISO RGD:1606077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060019 coronin-1A deficiency ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1606780 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1606780 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23077026|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532|PMID:30980674 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1606780 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1606780 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:12849 autistic disorder ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606780 D RGD:9068941 20220826 RGD mRNA, protein:decreased expression:esophagus (human) PMID:33833989|REF_RGD_ID:153344568 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:5419 schizophrenia ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:630 genetic disease ISO RGD:1606780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1606780 D RGD:9068941 20220826 RGD protein:decreased expression:esophagus (human) PMID:33833989|REF_RGD_ID:153344568 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: lethal neurodevelopmental disorder PMID:25741868|PMID:34585832 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1606780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 10359240 Pagr1 PAXIP1 associated glutamate rich protein 1 gene DOID:9009121 lung metastasis ISO RGD:1606780 D RGD:9068941 20220826 RGD human cells in mouse model PMID:33833989|REF_RGD_ID:153344568 10359836 Btbd18 BTB domain containing 18 gene DOID:1059 intellectual disability ISO RGD:2923345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10359836 Btbd18 BTB domain containing 18 gene DOID:630 genetic disease ISO RGD:2923345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10359842 Rpl6 ribosomal protein L6 gene DOID:0060578 Noonan syndrome 1 ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 10359842 Rpl6 ribosomal protein L6 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 10359842 Rpl6 ribosomal protein L6 gene DOID:0080690 RASopathy ISO RGD:733694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 10359842 Rpl6 ribosomal protein L6 gene DOID:0111512 metachondromatosis ISO RGD:733694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Metachondromatosis 10359842 Rpl6 ribosomal protein L6 gene DOID:14330 Parkinson's disease ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 10359842 Rpl6 ribosomal protein L6 gene DOID:305 carcinoma ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 10359842 Rpl6 ribosomal protein L6 gene DOID:630 genetic disease ISO RGD:733694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10359842 Rpl6 ribosomal protein L6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 10359842 Rpl6 ribosomal protein L6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 10360993 Hoxd9 homeobox D9 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1354432 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 10360993 Hoxd9 homeobox D9 gene DOID:3030 mucinous adenocarcinoma ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 10360993 Hoxd9 homeobox D9 gene DOID:630 genetic disease ISO RGD:1354432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10360993 Hoxd9 homeobox D9 gene DOID:684 hepatocellular carcinoma ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 10360993 Hoxd9 homeobox D9 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 10360993 Hoxd9 homeobox D9 gene DOID:9008192 Neoplastic Processes ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 10360993 Hoxd9 homeobox D9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 10361010 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:10825 essential hypertension ISO RGD:1318498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 10361010 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:437 myasthenia gravis ISO RGD:1318498 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: refractory myasthenia gravis PMID:11279519|PMID:11740341|PMID:12065767|PMID:12754175|PMID:15492926 10361010 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 10361010 Zscan25 zinc finger and SCAN domain containing 25 gene DOID:630 genetic disease ISO RGD:1318498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0050083 Keshan disease ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:21055077|REF_RGD_ID:11352821 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD protein:increased expression:oral cavity (human) PMID:28653098|REF_RGD_ID:152995473 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:25016003|REF_RGD_ID:11352765 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0060852 Pierson syndrome ISO RGD:737005 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0070004 myeloid neoplasm ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:27077777|REF_RGD_ID:11352761 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:24597775|REF_RGD_ID:11352823 10362863 Gpx1 glutathione peroxidase 1 gene DOID:0080600 COVID-19 ISO RGD:737005 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:737005 D RGD:9068941 20220428 RGD protein:decreased expression:stomach (human) PMID:22843889|REF_RGD_ID:151665483 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:missense mutation, haplotype:CDS:p.P198L (human) PMID:19035188|REF_RGD_ID:152995456 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10591 pre-eclampsia ISO RGD:737005 D RGD:9068941 20230928 RGD protein:decreased expression:placenta PMID:20303587|PMID:28705740|REF_RGD_ID:401827170|REF_RGD_ID:401827825 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10591 pre-eclampsia ISO RGD:737005 D RGD:9068941 20230930 RGD mRNA:decreased expression:placenta PMID:18852388|REF_RGD_ID:401827849 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10763 hypertension ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21593737 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10763 hypertension ISO RGD:737005 D RGD:9068941 20200609 RGD protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further PMID:17198913|REF_RGD_ID:1600704 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10763 hypertension treatment ISO RGD:2729 D RGD:9068941 20230720 RGD PMID:21210316|PMID:23752977|PMID:31572179|REF_RGD_ID:11352825|REF_RGD_ID:11353777|REF_RGD_ID:329956417 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia ISO RGD:10681 D RGD:9068941 20200609 RGD protein:decreased expression:penis PMID:22620981|REF_RGD_ID:11352757 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:20846340|REF_RGD_ID:11352775 10362863 Gpx1 glutathione peroxidase 1 gene DOID:10923 sickle cell anemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:19951064|REF_RGD_ID:11352756 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1099 alpha thalassemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:24577940|REF_RGD_ID:11352811 10362863 Gpx1 glutathione peroxidase 1 gene DOID:11054 urinary bladder cancer ISO RGD:737005 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:15247771|PMID:35764155 10362863 Gpx1 glutathione peroxidase 1 gene DOID:11476 osteoporosis ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 10362863 Gpx1 glutathione peroxidase 1 gene DOID:11713 diabetic angiopathy ISO RGD:737005 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 10362863 Gpx1 glutathione peroxidase 1 gene DOID:11714 gestational diabetes ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:22342560|REF_RGD_ID:11353780 10362863 Gpx1 glutathione peroxidase 1 gene DOID:11758 iron deficiency anemia ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:7861256|REF_RGD_ID:11352760 10362863 Gpx1 glutathione peroxidase 1 gene DOID:11758 iron deficiency anemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:24691014|REF_RGD_ID:11352819 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1184 nephrotic syndrome ISO RGD:2729 D RGD:9068941 20231005 RGD mRNA:increased expression:kidney PMID:20685819|REF_RGD_ID:7205671 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1240 leukemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:17205986|REF_RGD_ID:11352809 10362863 Gpx1 glutathione peroxidase 1 gene DOID:12849 autistic disorder ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19195803 10362863 Gpx1 glutathione peroxidase 1 gene DOID:12858 Huntington's disease ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:18588971|REF_RGD_ID:13432193 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1287 cardiovascular system disease ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14573732 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P198L (human) PMID:15331559|REF_RGD_ID:2306612 10362863 Gpx1 glutathione peroxidase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18940188 10362863 Gpx1 glutathione peroxidase 1 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:18940188|REF_RGD_ID:2306616 10362863 Gpx1 glutathione peroxidase 1 gene DOID:13001 carotid stenosis ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:23426106|REF_RGD_ID:11352755 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer ISO RGD:737005 D RGD:9068941 20220428 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:16615267|REF_RGD_ID:152023634 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:mutations:multiple (human) PMID:32850411|REF_RGD_ID:152995450 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS: (rs1050450) (human) PMID:23516596|REF_RGD_ID:152998903 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:11103801|PMID:15192016|REF_RGD_ID:152995449|REF_RGD_ID:152995506 10362863 Gpx1 glutathione peroxidase 1 gene DOID:14330 Parkinson's disease ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15824117 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1459 hypothyroidism treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:22733496|REF_RGD_ID:7257534 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1596 depressive disorder ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:23707456|REF_RGD_ID:11352766 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:repeat:CDS: (human) PMID:14744747|REF_RGD_ID:152995457 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15557674 10362863 Gpx1 glutathione peroxidase 1 gene DOID:182 calcinosis susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) PMID:17825092|REF_RGD_ID:2306608 10362863 Gpx1 glutathione peroxidase 1 gene DOID:1826 epilepsy ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2018 hyperinsulinism ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15184668|PMID:18560803 10362863 Gpx1 glutathione peroxidase 1 gene DOID:219 colon cancer ISO RGD:737005 D RGD:9068941 20220630 RGD mRNA, protein:increased expression:colon (human) PMID:21868509|REF_RGD_ID:152995496 10362863 Gpx1 glutathione peroxidase 1 gene DOID:219 colon cancer treatment ISO RGD:10681 D RGD:9068941 20220624 RGD associated with Inflammation PMID:28045589|REF_RGD_ID:152995480 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2316 brain ischemia ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12531513 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2349 arteriosclerosis ISO RGD:10681 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17420349|REF_RGD_ID:2306610 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2355 anemia ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:8939405|REF_RGD_ID:11352778 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2355 anemia treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:21422078|REF_RGD_ID:11352776 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2527 nephrosis ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:22046528|REF_RGD_ID:7240570 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2596 larynx cancer susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS: (rs1050450) (human) PMID:23516596|REF_RGD_ID:152998903 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15247771 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:c.593C>T (rs1050450) PMID:17693525|REF_RGD_ID:8547520 10362863 Gpx1 glutathione peroxidase 1 gene DOID:285 hairy cell leukemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:8843970|REF_RGD_ID:11353776 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:missense mutation:CDS:p.P198L (rs1050450) (human) PMID:27188866|REF_RGD_ID:152995455 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:737005 D RGD:9068941 20220623 RGD protein:increased expression:larynx (human) PMID:28641905|REF_RGD_ID:152995454 10362863 Gpx1 glutathione peroxidase 1 gene DOID:2876 laryngeal squamous cell carcinoma no_association ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:24074040|REF_RGD_ID:152995493 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3393 coronary artery disease ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:12655278|REF_RGD_ID:1600677 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3393 coronary artery disease ISO RGD:737005 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220623 RGD protein:decreased expression:mucosa of stomach (human) PMID:24228025|REF_RGD_ID:152995446 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:737005 D RGD:9068941 20220630 RGD mRNA:decreased expression:stomach, erythrocyte, lymphocyte (human) PMID:27957666|REF_RGD_ID:152998894 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:missense mutation:CDS:p.P200L (rs1050450) (human) PMID:18298806|REF_RGD_ID:152995507 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737005 D RGD:9068941 20220624 RGD DNA:missense mutation:CDS:p.P198L (rs1050450) (human) PMID:16797832|REF_RGD_ID:152995481 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3908 lung non-small cell carcinoma onset ISO RGD:737005 D RGD:9068941 20220630 RGD mRNA:increased expression:leukocyte (human) PMID:33474835|REF_RGD_ID:152998904 10362863 Gpx1 glutathione peroxidase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:737005 D RGD:9068941 20220630 RGD DNA:SNP: (human) PMID:19347979|REF_RGD_ID:152998881 10362863 Gpx1 glutathione peroxidase 1 gene DOID:4195 hyperglycemia ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15184668 10362863 Gpx1 glutathione peroxidase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:19819955|REF_RGD_ID:11353779 10362863 Gpx1 glutathione peroxidase 1 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:737005 D RGD:9068941 20220428 RGD protein:decreased expression:stomach (human) PMID:8001233|REF_RGD_ID:152023661 10362863 Gpx1 glutathione peroxidase 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:14573732|REF_RGD_ID:1600662 10362863 Gpx1 glutathione peroxidase 1 gene DOID:630 genetic disease ISO RGD:737005 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10362863 Gpx1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20220415 RGD associated with alcoholic liver cirrhosis;DNA:missense mutation:CDS:p.P198L (human) PMID:16510607|REF_RGD_ID:151708729 10362863 Gpx1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:737005 D RGD:9068941 20220701 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:25894370|REF_RGD_ID:152998906 10362863 Gpx1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737005 D RGD:9068941 20220415 RGD associated with hepatitis C;DNA:missense mutation:CDS:p.P198L (rs1050450) (human) PMID:26990426|REF_RGD_ID:11533013 10362863 Gpx1 glutathione peroxidase 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732740 D RGD:9068941 20220624 RGD PMID:19929244|REF_RGD_ID:152995483 10362863 Gpx1 glutathione peroxidase 1 gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:10681 D RGD:9068941 20230928 RGD PMID:21530968|PMID:24337353|REF_RGD_ID:401827823|REF_RGD_ID:401827834 10362863 Gpx1 glutathione peroxidase 1 gene DOID:784 chronic kidney disease ISO RGD:737005 D RGD:9068941 20230928 RGD DNA:SNP: :rs17080528 (human) PMID:31924810|REF_RGD_ID:401827826 10362863 Gpx1 glutathione peroxidase 1 gene DOID:784 chronic kidney disease treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:15954914|REF_RGD_ID:11352759 10362863 Gpx1 glutathione peroxidase 1 gene DOID:7998 hyperthyroidism ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:19914224|REF_RGD_ID:9068475 10362863 Gpx1 glutathione peroxidase 1 gene DOID:7998 hyperthyroidism ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 10362863 Gpx1 glutathione peroxidase 1 gene DOID:83 cataract ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:23194826|REF_RGD_ID:11353787 10362863 Gpx1 glutathione peroxidase 1 gene DOID:8552 chronic myeloid leukemia no_association ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:25436036|REF_RGD_ID:11352762 10362863 Gpx1 glutathione peroxidase 1 gene DOID:8577 ulcerative colitis ISO RGD:737005 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:20186929|REF_RGD_ID:11352754 10362863 Gpx1 glutathione peroxidase 1 gene DOID:8725 vascular dementia treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:24968700|REF_RGD_ID:11352822 10362863 Gpx1 glutathione peroxidase 1 gene DOID:8778 Crohn's disease ISO RGD:737005 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:20186929|REF_RGD_ID:11352754 10362863 Gpx1 glutathione peroxidase 1 gene DOID:8923 skin melanoma ISO RGD:737005 D RGD:9068941 20220428 RGD mRNA:increased expression:skin of body (human) PMID:29535818|REF_RGD_ID:152023655 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:737005 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9000582 Reticulocytosis ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:6320862|REF_RGD_ID:11353799 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9000998 Brain Injuries ISO RGD:2729 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus, neuron PMID:15791111|REF_RGD_ID:2306624 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9001109 Anorexia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Uremia PMID:12005352|REF_RGD_ID:11352773 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:24954678|REF_RGD_ID:11352769 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:737005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737005 D RGD:9068941 20230928 RGD mRNA, protein:increased expression:blood, plasma PMID:28298473|REF_RGD_ID:401827171 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10681 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:17609286|REF_RGD_ID:2306609 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:16249459|REF_RGD_ID:11068479 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2729 D RGD:9068941 20231005 RGD associated with Experimental Diabetes Mellitus PMID:32592386|REF_RGD_ID:401827869 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16844917|REF_RGD_ID:2306611 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9003298 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to ISO RGD:737005 D RGD:7240710 20180130 OMIM 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9003298 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to ISO RGD:737005 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glutathione peroxidase deficiency PMID:10220143|PMID:25741868 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9003603 Hemolysis ISO RGD:737005 D RGD:9068941 20200609 RGD following reinfusion of stored blood PMID:5766310|REF_RGD_ID:1600671 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9003709 Mercury Poisoning ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:18758054|REF_RGD_ID:7240571 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9003871 Venous Thrombosis ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:23426106|REF_RGD_ID:11352755 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23743330 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:2729 D RGD:9068941 20231007 RGD PMID:18306454|REF_RGD_ID:2312624 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11103801 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:18387670|REF_RGD_ID:2306607 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2729 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:15039483|REF_RGD_ID:2306161 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2729 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19229592|REF_RGD_ID:2306606 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:25744399|REF_RGD_ID:11353782 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9005725 Iron Overload ISO RGD:737005 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia PMID:16317757|REF_RGD_ID:11352779 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15557674 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9006302 Binge Drinking ISO RGD:2729 D RGD:9068941 20231005 RGD protein:decreased expression:liver PMID:25864381|REF_RGD_ID:401827870 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9006553 Hyperthermia ISO RGD:737005 D RGD:9068941 20211015 CTD CTD Direct Evidence: therapeutic PMID:34082047 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9007188 Liver Neoplasms treatment ISO RGD:10681 D RGD:9068941 20220623 RGD PMID:26147624|REF_RGD_ID:152995453 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9008691 Liver Injury treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:23750655|REF_RGD_ID:11353785 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12810669 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:SNP: :c.599C>T (rs1050450) (human) PMID:26950655|REF_RGD_ID:11061784 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:737005 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P198L (human) PMID:26823947|REF_RGD_ID:11061561 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:22930375|REF_RGD_ID:11352817 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9256 colorectal cancer ISO RGD:737005 D RGD:9068941 20220428 RGD mRNA:decreased expression:colorectum (human) PMID:25550558|REF_RGD_ID:152023662 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:737005 D RGD:9068941 20220428 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:19428376|REF_RGD_ID:152023636 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:737005 D RGD:9068941 20220623 RGD DNA:missense mutation:CDS:p.P198L (human) PMID:33616746|REF_RGD_ID:152995452 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9268 glycine encephalopathy ISO RGD:737005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2729 D RGD:9068941 20200609 RGD PMID:24563435|REF_RGD_ID:11035307 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366|PMID:23795780 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9452 steatotic liver disease ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9452 steatotic liver disease treatment ISO RGD:2729 D RGD:9068941 20240201 RGD PMID:30298849|REF_RGD_ID:401960083 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9538 multiple myeloma ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:8599825|REF_RGD_ID:11352777 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9669 senile cataract ISO RGD:10681 D RGD:9068941 20200609 RGD PMID:16129095|REF_RGD_ID:10003112 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:24698347|REF_RGD_ID:11352812 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:737005 D RGD:9068941 20200609 RGD PMID:17317918|REF_RGD_ID:11352774 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9970 obesity ISO RGD:737005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15184668 10362863 Gpx1 glutathione peroxidase 1 gene DOID:9970 obesity treatment ISO RGD:2729 D RGD:9068941 20240201 RGD PMID:30298849|REF_RGD_ID:401960083 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:12849 autistic disorder ISO RGD:733391 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:630 genetic disease ISO RGD:733391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10364987 Scaf1 SR-related CTD associated factor 1 gene DOID:783 end stage renal disease ISO RGD:708405 D RGD:9068941 20230914 RGD protein:increased expression:kidney (rat) PMID:19878707|REF_RGD_ID:2326081 10368661 LOC106149796 chromosome unknown open reading frame, human C2orf72 gene DOID:0060476 Perlman syndrome ISO RGD:2298740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 10368661 LOC106149796 chromosome unknown open reading frame, human C2orf72 gene DOID:0110991 Joubert syndrome 22 ISO RGD:2298740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 10368661 LOC106149796 chromosome unknown open reading frame, human C2orf72 gene DOID:630 genetic disease ISO RGD:2298740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10371996 Fkbpl FKBP prolyl isomerase like gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 10371996 Fkbpl FKBP prolyl isomerase like gene DOID:630 genetic disease ISO RGD:1353952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10371996 Fkbpl FKBP prolyl isomerase like gene DOID:9008939 Breast Neoplasms ISO RGD:1353952 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20103631 10378497 Dcd dermcidin gene DOID:630 genetic disease ISO RGD:1349389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10378497 Dcd dermcidin gene DOID:9007188 Liver Neoplasms ISO RGD:1349389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0050700 cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0050713 COX deficiency, infantile mitochondrial myopathy ISO RGD:1347479 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency PMID:10545952|PMID:11673586|PMID:12020273|PMID:12529715|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0060041 autism spectrum disorder ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1347479 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1347479 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition PMID:10852545|PMID:12177387|PMID:12529715|PMID:14720311|PMID:15781193|PMID:16198108|PMID:16199547|PMID:17437622|PMID:17576681|PMID:19056268|PMID:19748572|PMID:19853446|PMID:2005900|PMID:21412940|PMID:21933806|PMID:22618301|PMID:23590577|PMID:23643385|PMID:24033266|PMID:24215330|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31885962|PMID:36101829|PMID:37334785|PMID:9536098|PMID:9924029 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:10852545|PMID:12529715|PMID:15781193|PMID:16198108|PMID:16199547|PMID:17576681|PMID:19056268|PMID:19853446|PMID:2005900|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098|PMID:9924029 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ISO RGD:1347479 D RGD:7240710 20180130 OMIM 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ISO RGD:1347479 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:12529715|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18804471|PMID:18924171|PMID:19353847|PMID:19879173|PMID:20159436|PMID:20445193|PMID:23345593|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25097374|PMID:25741868|PMID:25959673|PMID:26467025|PMID:27290639|PMID:28429146|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:30340907|PMID:30593977|PMID:31589614|PMID:31623504|PMID:31967322|PMID:32461654|PMID:32600061|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34362006|PMID:34426522|PMID:34691145|PMID:34732400|PMID:34746378|PMID:35083221|PMID:36678915 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1347479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:10581 metachromatic leukodystrophy ISO RGD:1347479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11027508|PMID:14970747 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347479 D RGD:9068941 20200609 RGD PMID:10749987|REF_RGD_ID:1580020 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:12377 spinal muscular atrophy ISO RGD:1347479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:2005900|PMID:25741868|PMID:26467025|PMID:28492532 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:12930 dilated cardiomyopathy ISO RGD:1347479 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive PMID:20159436|PMID:25741868|PMID:28492532 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:12930 dilated cardiomyopathy ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10545952|PMID:15210538|PMID:19879173|PMID:20159436|PMID:25741868|PMID:28492532 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:1826 epilepsy ISO RGD:1347479 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizures PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:12529715|PMID:23643385|PMID:25741868|PMID:25959673|PMID:26467025|PMID:28492532|PMID:28518168|PMID:32461654 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15781193|PMID:16199547|PMID:17576681|PMID:19056268|PMID:22618301|PMID:23643385|PMID:25741868|PMID:25959673|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9536098|PMID:9924029 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995|PMID:23345593 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:10852545|PMID:12529715|PMID:15781193|PMID:16198108|PMID:16199547|PMID:17576681|PMID:19056268|PMID:19853446|PMID:2005900|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098|PMID:9924029 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:9001488 Human Influenza ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:9004853 Myopia 6 ISO RGD:1347479 D RGD:7240710 20180130 OMIM 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:9004853 Myopia 6 ISO RGD:1347479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 6 | ClinVar Annotator: match by term: Myopia, susceptibility to PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145 10379226 LOC106146232 protein SCO2 homolog, mitochondrial gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1347479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 10379234 Znf565 zinc finger protein 565 gene DOID:5419 schizophrenia ISO RGD:1344264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 10379234 Znf565 zinc finger protein 565 gene DOID:630 genetic disease ISO RGD:1344264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10379602 Homez homeobox and leucine zipper encoding gene DOID:0060439 lysinuric protein intolerance ISO RGD:735425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 10379602 Homez homeobox and leucine zipper encoding gene DOID:630 genetic disease ISO RGD:735425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10379602 Homez homeobox and leucine zipper encoding gene DOID:9000265 Specific Granule Deficiency ISO RGD:735425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 10379602 Homez homeobox and leucine zipper encoding gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735425 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 10381358 Stmp1 short transmembrane mitochondrial protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5480038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 10388026 Prss57 serine protease 57 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1342482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 10388026 Prss57 serine protease 57 gene DOID:0080600 COVID-19 ISO RGD:1342482 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 10388026 Prss57 serine protease 57 gene DOID:2843 long QT syndrome ISO RGD:1342482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 10388026 Prss57 serine protease 57 gene DOID:5339 cyclic hematopoiesis ISO RGD:1342482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 10388026 Prss57 serine protease 57 gene DOID:630 genetic disease ISO RGD:1342482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10392019 Chml CHM like Rab escort protein gene DOID:0111261 fumarase deficiency ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 10392019 Chml CHM like Rab escort protein gene DOID:1540 parathyroid carcinoma ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 10392019 Chml CHM like Rab escort protein gene DOID:2841 asthma ISO RGD:1313260 D RGD:9068941 20200609 RGD PMID:18343558|REF_RGD_ID:5133238 10392019 Chml CHM like Rab escort protein gene DOID:630 genetic disease ISO RGD:1313260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10392019 Chml CHM like Rab escort protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10392019 Chml CHM like Rab escort protein gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1313260 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 10392019 Chml CHM like Rab escort protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 10392057 Cdc25c cell division cycle 25C gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1323559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 10392057 Cdc25c cell division cycle 25C gene DOID:0080365 endometrial hyperplasia ISO RGD:1323559 D RGD:9068941 20200609 RGD PMID:12931023|REF_RGD_ID:4105452 10392057 Cdc25c cell division cycle 25C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 10392057 Cdc25c cell division cycle 25C gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1323559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 10392057 Cdc25c cell division cycle 25C gene DOID:10283 prostate cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD PMID:12896904|PMID:16140946|PMID:17460776|REF_RGD_ID:2756028|REF_RGD_ID:2774210|REF_RGD_ID:4105453 10392057 Cdc25c cell division cycle 25C gene DOID:10283 prostate cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD mRNA, protein:alternative form, increased expression, increased activity:prostate gland PMID:16000564|REF_RGD_ID:2776427 10392057 Cdc25c cell division cycle 25C gene DOID:1380 endometrial cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD DNA:mutation (human) PMID:12124347|REF_RGD_ID:4105455 10392057 Cdc25c cell division cycle 25C gene DOID:1612 breast cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15567944|REF_RGD_ID:4105448 10392057 Cdc25c cell division cycle 25C gene DOID:2101 vulva squamous cell carcinoma disease_progression ISO RGD:1323559 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:20500813|REF_RGD_ID:2729590 10392057 Cdc25c cell division cycle 25C gene DOID:4362 cervical cancer ISO RGD:1323559 D RGD:9068941 20200609 RGD PMID:15289842|REF_RGD_ID:4105450 10392057 Cdc25c cell division cycle 25C gene DOID:630 genetic disease ISO RGD:1323559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10392057 Cdc25c cell division cycle 25C gene DOID:684 hepatocellular carcinoma ISO RGD:1323559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 10392057 Cdc25c cell division cycle 25C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 10392057 Cdc25c cell division cycle 25C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 10392057 Cdc25c cell division cycle 25C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8699521 Tex30 testis expressed 30 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1605014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 8699521 Tex30 testis expressed 30 gene DOID:14701 propionic acidemia ISO RGD:1605014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8699521 Tex30 testis expressed 30 gene DOID:630 genetic disease ISO RGD:1605014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699521 Tex30 testis expressed 30 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1605014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8699521 Tex30 testis expressed 30 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1605014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 8699537 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:10283 prostate cancer ISO RGD:1316770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8699537 Entrep1 endosomal transmembrane epsin interactor 1 gene DOID:630 genetic disease ISO RGD:1316770 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699556 Ephx2 epoxide hydrolase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731054 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:30890645|PMID:35663546 8699556 Ephx2 epoxide hydrolase 2 gene DOID:0060319 cardiac arrest ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:17728042|REF_RGD_ID:5688386 8699556 Ephx2 epoxide hydrolase 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:731054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8699556 Ephx2 epoxide hydrolase 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:731054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8699556 Ephx2 epoxide hydrolase 2 gene DOID:10763 hypertension ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:16157792|PMID:21720266|REF_RGD_ID:1580985|REF_RGD_ID:5688733 8699556 Ephx2 epoxide hydrolase 2 gene DOID:10763 hypertension ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:11001943|PMID:19553349|REF_RGD_ID:1580987|REF_RGD_ID:5688730 8699556 Ephx2 epoxide hydrolase 2 gene DOID:10763 hypertension susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K55R (human) PMID:20065888|REF_RGD_ID:5688727 8699556 Ephx2 epoxide hydrolase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:620732 D RGD:9068941 20230831 RGD mRNA, protein:increased expression:heart (rat) PMID:19889059|REF_RGD_ID:401794453 8699556 Ephx2 epoxide hydrolase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:731054 D RGD:7240710 20180130 OMIM 8699556 Ephx2 epoxide hydrolase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:731054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10862610|PMID:12522687|PMID:14673705|PMID:14732757|PMID:15845398|PMID:25741868 8699556 Ephx2 epoxide hydrolase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion:exons:p.R287Q (898G>A), p.S402_R403insR (1246_1247insTCG) (human) PMID:11692079|REF_RGD_ID:5688390 8699556 Ephx2 epoxide hydrolase 2 gene DOID:1936 atherosclerosis ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:20224052|REF_RGD_ID:5688357 8699556 Ephx2 epoxide hydrolase 2 gene DOID:3021 acute kidney failure ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26165641 8699556 Ephx2 epoxide hydrolase 2 gene DOID:3393 coronary artery disease ISO RGD:731054 D RGD:9068941 20200609 RGD PMID:14732757|REF_RGD_ID:1580982 8699556 Ephx2 epoxide hydrolase 2 gene DOID:3526 cerebral infarction ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:16306811|REF_RGD_ID:1580986 8699556 Ephx2 epoxide hydrolase 2 gene DOID:5419 schizophrenia ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30890645 8699556 Ephx2 epoxide hydrolase 2 gene DOID:5844 myocardial infarction ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:19716829|REF_RGD_ID:5688358 8699556 Ephx2 epoxide hydrolase 2 gene DOID:6000 congestive heart failure ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18443590 8699556 Ephx2 epoxide hydrolase 2 gene DOID:630 genetic disease ISO RGD:731054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699556 Ephx2 epoxide hydrolase 2 gene DOID:6432 pulmonary hypertension ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:19226702|REF_RGD_ID:5688731 8699556 Ephx2 epoxide hydrolase 2 gene DOID:783 end stage renal disease disease_progression ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:20694143|REF_RGD_ID:5688726 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9000146 Plaque, Atherosclerotic susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:exon, intron:p.R287Q, IVS11-883C>G (rs751141, rs721619) (human) PMID:16545818|REF_RGD_ID:5688389 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9000528 Coronary Disease ISO RGD:731054 D RGD:9068941 20200609 RGD PMID:16595607|REF_RGD_ID:1580981 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9000998 Brain Injuries ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:21075124|REF_RGD_ID:5688356 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834332 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731055 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21832210|REF_RGD_ID:5688728 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9002211 Hyperalgesia ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:16962614|REF_RGD_ID:5688387 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:19471280|REF_RGD_ID:5688359 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:22051199|REF_RGD_ID:5688354 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9005930 Endotoxemia ISO RGD:731055 D RGD:9068941 20200609 RGD PMID:19154430|REF_RGD_ID:5688360 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:620732 D RGD:9068941 20200609 RGD PMID:22007192|REF_RGD_ID:5688391 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26165641 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9007096 Stroke ISO RGD:620732 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-255T>C, -111G>A, 25C>T (rat) PMID:18086949|REF_RGD_ID:5688363 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9007096 Stroke susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS16 (rs2291635) (human) PMID:18323494|REF_RGD_ID:5688362 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9007096 Stroke susceptibility ISO RGD:731054 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K55R (human) PMID:20065888|REF_RGD_ID:5688727 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29298899 8699556 Ephx2 epoxide hydrolase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834332 8699581 Znf385a zinc finger protein 385A gene DOID:630 genetic disease ISO RGD:1315468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0110994 Joubert syndrome 25 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0111934 immunodeficiency 38 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:0111935 immunodeficiency 16 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:630 genetic disease ISO RGD:731329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:83 cataract ISO RGD:1550985 D RGD:9068941 20220825 MouseDO OMIM:601371 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9001743 Cataract 49 ISO RGD:731329 D RGD:7240710 20211110 OMIM 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9001743 Cataract 49 ISO RGD:731329 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cataract 49 PMID:25741868|PMID:30585370 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:731329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8699603 Pank4 pantothenate kinase 4 (inactive) gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:731329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699652 Lig1 DNA ligase 1 gene DOID:11054 urinary bladder cancer ISO RGD:731763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 8699652 Lig1 DNA ligase 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731763 D RGD:9068941 20200609 RGD DNA ligase I deficiency PMID:1351188|REF_RGD_ID:1600089 8699652 Lig1 DNA ligase 1 gene DOID:630 genetic disease ISO RGD:731763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8699652 Lig1 DNA ligase 1 gene DOID:655 inherited metabolic disorder ISO RGD:731763 D RGD:9068941 20200609 RGD DNA ligase I deficiency PMID:1351188|REF_RGD_ID:1600089 8699652 Lig1 DNA ligase 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:621424 D RGD:9068941 20200609 RGD PMID:30813600|REF_RGD_ID:14995940 8699652 Lig1 DNA ligase 1 gene DOID:9000296 Immunodeficiency 96 ISO RGD:731763 D RGD:7240710 20220316 OMIM 8699652 Lig1 DNA ligase 1 gene DOID:9000296 Immunodeficiency 96 ISO RGD:731763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 96 PMID:1581963|PMID:17576681|PMID:19223467|PMID:25741868|PMID:28492532|PMID:30395541|PMID:32888943|PMID:32914844|PMID:33444456|PMID:33600799|PMID:9536098 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0050144 Kartagener syndrome ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23122589|PMID:23891469|PMID:24307375|PMID:26139845|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0050545 visceral heterotaxy ISO RGD:1351490 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0110608 primary ciliary dyskinesia 19 ISO RGD:1351490 D RGD:7240710 20180130 OMIM 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:0110608 primary ciliary dyskinesia 19 ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DNAAF11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 19 PMID:16199547|PMID:17576681|PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:24033266|PMID:24307375|PMID:25741868|PMID:26139845|PMID:27637300|PMID:28492532|PMID:30300419|PMID:31650533|PMID:9536098 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:14264 benign neonatal seizures ISO RGD:1351490 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:2377 multiple sclerosis ISO RGD:1351490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to PMID:25741868|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:5223 infertility ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infertility PMID:28492532|PMID:30300419 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:630 genetic disease ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23122589|PMID:23891469|PMID:24307375|PMID:26139845|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:758 situs inversus ISO RGD:1351490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532 8699706 Dnaaf11 dynein axonemal assembly factor 11 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351490 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:24033266|PMID:24307375|PMID:25741868|PMID:26139845|PMID:26228299|PMID:27637300|PMID:28492532 8699729 Gpnmb glycoprotein nmb gene DOID:0060680 pigment dispersion syndrome ISO RGD:733525 D RGD:9068941 20220825 MouseDO OMIM:600510 8699729 Gpnmb glycoprotein nmb gene DOID:0080600 COVID-19 ISO RGD:736300 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8699729 Gpnmb glycoprotein nmb gene DOID:0080932 primary localized cutaneous amyloidosis 3 ISO RGD:736300 D RGD:7240710 20190315 OMIM 8699729 Gpnmb glycoprotein nmb gene DOID:0080932 primary localized cutaneous amyloidosis 3 ISO RGD:736300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 3 PMID:19416385|PMID:25741868|PMID:25866143|PMID:28492532|PMID:29336782 8699729 Gpnmb glycoprotein nmb gene DOID:3021 acute kidney failure ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 8699729 Gpnmb glycoprotein nmb gene DOID:3454 brain infarction ISO RGD:71008 D RGD:9068941 20230527 RGD mRNA:increased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8699729 Gpnmb glycoprotein nmb gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 8699729 Gpnmb glycoprotein nmb gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8699729 Gpnmb glycoprotein nmb gene DOID:630 genetic disease ISO RGD:736300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699729 Gpnmb glycoprotein nmb gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8699729 Gpnmb glycoprotein nmb gene DOID:9004590 Acute Liver Failure ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15763343 8699729 Gpnmb glycoprotein nmb gene DOID:9008443 Colorectal Neoplasms ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 8699729 Gpnmb glycoprotein nmb gene DOID:9008939 Breast Neoplasms ISO RGD:736300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8699748 Stra8 stimulated by retinoic acid 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8699748 Stra8 stimulated by retinoic acid 8 gene DOID:630 genetic disease ISO RGD:1604701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1317629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1317629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:24033266|PMID:25741868|PMID:28492532 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1317629 D RGD:7240710 20180130 OMIM 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1317629 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 PMID:11836498|PMID:12664304|PMID:15108212|PMID:16199547|PMID:20158590|PMID:21833017|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29600982|PMID:30985222|PMID:31898847 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:0110271 cataract 23 ISO RGD:1317629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:2223 platelet storage pool deficiency ISO RGD:1317630 D RGD:9068941 20220825 MouseDO OMIM:185050 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1317629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12664304|PMID:24033266|PMID:25741868|PMID:26575419|PMID:28492532|PMID:31898847 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1317629 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple: PMID:23563589|REF_RGD_ID:11353873 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:630 genetic disease ISO RGD:1317629 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11836498|PMID:12664304|PMID:15108212|PMID:25741868|PMID:28492532 8699771 Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 gene DOID:9001386 Albinism ISO RGD:1317629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism PMID:12664304|PMID:16199547|PMID:25741868|PMID:28492532|PMID:29600982 8699801 Dlx1 distal-less homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1320012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21302352 8699801 Dlx1 distal-less homeobox 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320012 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8699801 Dlx1 distal-less homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1320012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728693 8699801 Dlx1 distal-less homeobox 1 gene DOID:630 genetic disease ISO RGD:1320012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699801 Dlx1 distal-less homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9187081 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0050567 orofacial cleft ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial cleft PMID:25741868 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1313743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0112368 Coffin-Siris syndrome 5 ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 5 PMID:22426308|PMID:23906836|PMID:25741868|PMID:28492532 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:0112368 Coffin-Siris syndrome 5 susceptibility ISO RGD:1313743 D RGD:7240710 20240228 OMIM 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:1059 intellectual disability ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1313743 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:22426308 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1313743 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 PMID:25741868|PMID:28492532 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:9068941 20220414 RGD DNA:multiple:multiple (human) PMID:29409008|REF_RGD_ID:151708704 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:3565 meningioma ISO RGD:1313743 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35681054 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:4586 familial meningioma ISO RGD:1313743 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:16199547|PMID:17576681|PMID:22426308|PMID:23377182|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:4586 familial meningioma susceptibility ISO RGD:1313743 D RGD:7240710 20240228 OMIM 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:630 genetic disease ISO RGD:1313743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23377182|PMID:25169753|PMID:25741868|PMID:28166811|PMID:28492532 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:23377182|PMID:25169753|PMID:25741868|PMID:28492532|PMID:29625052 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:23377182|PMID:25169753|PMID:25741868|PMID:26803492|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 8699819 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313743 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:23377182|PMID:25169753|PMID:25741868|PMID:26803492|PMID:27891692|PMID:28492532|PMID:29625052|PMID:30209809|PMID:9536098 8699839 Six1 SIX homeobox 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868 8699839 Six1 SIX homeobox 1 gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:731648 D RGD:7240710 20180130 OMIM 8699839 Six1 SIX homeobox 1 gene DOID:0110553 autosomal dominant nonsyndromic deafness 23 ISO RGD:731648 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 23 PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:23435380|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:35802133|PMID:36633841 8699839 Six1 SIX homeobox 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:731648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootorenal Syndrome 1 | ClinVar Annotator: match by term: Branchiootorenal syndrome 1 PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:21280147|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25788563|PMID:28492532 8699839 Six1 SIX homeobox 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:731648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:18330911|PMID:24164807|PMID:25741868 8699839 Six1 SIX homeobox 1 gene DOID:1612 breast cancer severity ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:increased expression:breast epithelium (human) PMID:9770533|REF_RGD_ID:11561960 8699839 Six1 SIX homeobox 1 gene DOID:2154 nephroblastoma ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8699839 Six1 SIX homeobox 1 gene DOID:2154 nephroblastoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q177R (human) PMID:25670083|REF_RGD_ID:11561953 8699839 Six1 SIX homeobox 1 gene DOID:2154 nephroblastoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD protein:increased expression:kidney, blastema (human) PMID:22180226|REF_RGD_ID:11561963 8699839 Six1 SIX homeobox 1 gene DOID:3192 neurilemmoma ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:increased expression:Schwann cell (human) PMID:19901965|REF_RGD_ID:11561959 8699839 Six1 SIX homeobox 1 gene DOID:4001 ovarian carcinoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:increased expression:female gonad (human) PMID:17409410|REF_RGD_ID:11561962 8699839 Six1 SIX homeobox 1 gene DOID:630 genetic disease ISO RGD:731648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30311386 8699839 Six1 SIX homeobox 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:731648 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:17008870|REF_RGD_ID:11561961 8699839 Six1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:1550080 D RGD:9068941 20200609 RGD PMID:21385574|REF_RGD_ID:11561981 8699839 Six1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:620906 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung epithelium: PMID:24528972|REF_RGD_ID:8554873 8699839 Six1 SIX homeobox 1 gene DOID:9000096 Lung Agenesis ISO RGD:731648 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:24528972|REF_RGD_ID:8554873 8699839 Six1 SIX homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731648 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23435380|REF_RGD_ID:11561950 8699839 Six1 SIX homeobox 1 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:1550080 D RGD:9068941 20200609 RGD PMID:21364285|REF_RGD_ID:11561941 8699839 Six1 SIX homeobox 1 gene DOID:9001767 Unilateral Hearing Loss ISO RGD:731648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Unilateral deafness 8699839 Six1 SIX homeobox 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 1 PMID:12843324|PMID:15141091|PMID:16652090|PMID:19497856|PMID:21254961|PMID:24033266|PMID:25741868 8699839 Six1 SIX homeobox 1 gene DOID:9004538 Hearing Loss ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 8699839 Six1 SIX homeobox 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1550080 D RGD:9068941 20200609 RGD PMID:12834866|REF_RGD_ID:8554898 8699839 Six1 SIX homeobox 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12834866 8699839 Six1 SIX homeobox 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27259717 8699839 Six1 SIX homeobox 1 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:731648 D RGD:7240710 20180130 OMIM 8699839 Six1 SIX homeobox 1 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:731648 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: BO SYNDROME 3 | ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:10777717|PMID:12843324|PMID:15141091|PMID:16652090|PMID:16971658|PMID:17637804|PMID:18330911|PMID:18666230|PMID:19497856|PMID:21254961|PMID:21280147|PMID:21700001|PMID:23435380|PMID:24033266|PMID:24164807|PMID:25326635|PMID:25414181|PMID:25741868|PMID:25788563|PMID:28492532|PMID:30311386|PMID:31980437|PMID:35802133|PMID:36633841 8699839 Six1 SIX homeobox 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:731648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 8699839 Six1 SIX homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12834866 8699845 Prodh2 proline dehydrogenase 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1315565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8699845 Prodh2 proline dehydrogenase 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1315565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8699845 Prodh2 proline dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1315565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699845 Prodh2 proline dehydrogenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:2717 Bloom syndrome ISO RGD:1606120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:630 genetic disease ISO RGD:1606120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699863 Pla2g4f phospholipase A2 group IVF gene DOID:9256 colorectal cancer ISO RGD:1606120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605688 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0111934 immunodeficiency 38 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:0111935 immunodeficiency 16 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:630 genetic disease ISO RGD:1605688 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1605688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8699890 Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1605688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:732202 D RGD:7240710 20180130 OMIM 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:732202 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:11134486|PMID:12736383|PMID:12872838|PMID:14506246|PMID:14568186|PMID:14595061|PMID:16199547|PMID:16546179|PMID:16906473|PMID:1692038|PMID:16926354|PMID:17576681|PMID:18054510|PMID:185223805|PMID:18523805|PMID:18676165|PMID:18836889|PMID:18951053|PMID:19800078|PMID:20376488|PMID:20389114|PMID:21170680|PMID:21325261|PMID:21483766|PMID:21500142|PMID:22241096|PMID:22424739|PMID:23155713|PMID:23798014|PMID:24033266|PMID:24485985|PMID:25741868|PMID:26055667|PMID:26274329|PMID:27051597|PMID:27466294|PMID:27938594|PMID:28018444|PMID:2808706|PMID:28263315|PMID:28374236|PMID:28454995|PMID:28492532|PMID:28516284|PMID:28532786|PMID:29519241|PMID:29678161|PMID:30035407|PMID:30612563|PMID:30626930|PMID:31813752|PMID:31847883|PMID:31980526|PMID:32447334|PMID:32710939|PMID:32778825|PMID:32793418|PMID:32802992|PMID:33391346|PMID:33895855|PMID:34394177|PMID:34869113|PMID:35095998|PMID:35193651|PMID:36207829|PMID:9499414|PMID:9536098|PMID:9582344 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732202 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:18523805|PMID:25741868|PMID:28492532 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:1574 alcohol use disorder susceptibility ISO RGD:732202 D RGD:9068941 20240229 RGD DNA:SNP:: (rs1799958) (human) PMID:20554694|REF_RGD_ID:401976551 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:6000 congestive heart failure ISO RGD:732202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30827304 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:630 genetic disease ISO RGD:732202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12736383|PMID:16546179|PMID:1692038|PMID:18054510|PMID:18523805|PMID:18676165|PMID:21170680|PMID:21483766|PMID:22241096|PMID:22424739|PMID:23798014|PMID:24033266|PMID:24485985|PMID:25741868|PMID:27051597|PMID:2808706|PMID:28492532|PMID:32793418|PMID:9499414 8699899 Acads acyl-CoA dehydrogenase short chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:732202 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:18523805|PMID:25741868|PMID:28492532 8699912 Fads2 fatty acid desaturase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:68475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8699912 Fads2 fatty acid desaturase 2 gene DOID:1059 intellectual disability ISO RGD:68475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8699912 Fads2 fatty acid desaturase 2 gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:68475 D RGD:9068941 20231207 RGD PMID:24284026|REF_RGD_ID:401901245 8699912 Fads2 fatty acid desaturase 2 gene DOID:3312 bipolar disorder ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8699912 Fads2 fatty acid desaturase 2 gene DOID:5804 discrete subaortic stenosis treatment ISO RGD:68339 D RGD:9068941 20231207 RGD associated with Left Ventricular Hypertrophy, Cardiac Fibrosis PMID:24284026|REF_RGD_ID:401901245 8699912 Fads2 fatty acid desaturase 2 gene DOID:6000 congestive heart failure treatment ISO RGD:68339 D RGD:9068941 20231207 RGD associated with Left Ventricular Hypertrophy, Cardiac Fibrosis PMID:24284026|REF_RGD_ID:401901245 8699912 Fads2 fatty acid desaturase 2 gene DOID:6000 congestive heart failure treatment ISO RGD:68339 D RGD:9068941 20231214 RGD PMID:22796714|REF_RGD_ID:401901592 8699912 Fads2 fatty acid desaturase 2 gene DOID:630 genetic disease ISO RGD:68475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699912 Fads2 fatty acid desaturase 2 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:68339 D RGD:9068941 20231214 RGD PMID:22796714|PMID:24284026|REF_RGD_ID:401901245|REF_RGD_ID:401901592 8699912 Fads2 fatty acid desaturase 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:68339 D RGD:9068941 20231207 RGD PMID:24284026|REF_RGD_ID:401901245 8699912 Fads2 fatty acid desaturase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8699912 Fads2 fatty acid desaturase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 8699912 Fads2 fatty acid desaturase 2 gene DOID:9455 lipid storage disease ISO RGD:68475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21123845 8699912 Fads2 fatty acid desaturase 2 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:68339 D RGD:9068941 20231202 RGD associated with hypertension PMID:15589689|REF_RGD_ID:401901188 8699929 Utp25 UTP25 small subunit processome component gene DOID:10487 Hirschsprung's disease ISO RGD:1604367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25007945 8699929 Utp25 UTP25 small subunit processome component gene DOID:1540 parathyroid carcinoma ISO RGD:1604367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8699929 Utp25 UTP25 small subunit processome component gene DOID:630 genetic disease ISO RGD:1604367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8699929 Utp25 UTP25 small subunit processome component gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8699973 Adcy10 adenylate cyclase 10 gene DOID:0111942 immunodeficiency 25 ISO RGD:737484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 8699973 Adcy10 adenylate cyclase 10 gene DOID:12336 male infertility ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 8699973 Adcy10 adenylate cyclase 10 gene DOID:1540 parathyroid carcinoma ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8699973 Adcy10 adenylate cyclase 10 gene DOID:630 genetic disease ISO RGD:737484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8699973 Adcy10 adenylate cyclase 10 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:737485 D RGD:9068941 20230429 RGD PMID:29466442|REF_RGD_ID:329337358 8699973 Adcy10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 ISO RGD:737484 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria PMID:11932268|PMID:17576681|PMID:25741868|PMID:26787776|PMID:28492532|PMID:9536098 8699973 Adcy10 adenylate cyclase 10 gene DOID:9005047 Hypercalciuria, Absorptive, 2 susceptibility ISO RGD:737484 D RGD:7240710 20190502 OMIM 8699973 Adcy10 adenylate cyclase 10 gene DOID:9008091 Optic Nerve Injuries ISO RGD:708450 D RGD:9068941 20230504 RGD protein:decreased expression:retina PMID:22649251|REF_RGD_ID:329347828 8699973 Adcy10 adenylate cyclase 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1319944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:0080942 anauxetic dysplasia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1319944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:630 genetic disease ISO RGD:1319944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700011 Dctn3 dynactin subunit 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319944 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8700011 Dctn3 dynactin subunit 3 gene DOID:9870 galactosemia ISO RGD:1319944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8700066 Ubl3 ubiquitin like 3 gene DOID:630 genetic disease ISO RGD:1313456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25447171|PMID:25661095|PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050451 Brugada syndrome ISO RGD:10268 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17224476|PMID:17576681|PMID:20817017|PMID:22385640|PMID:22581653|PMID:22840528|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:25333069|PMID:25633834|PMID:25637381|PMID:25741868|PMID:27231019|PMID:27662471|PMID:28341588|PMID:28492532|PMID:28750076|PMID:30172029|PMID:30279520|PMID:30662450|PMID:31293105|PMID:31539150|PMID:31737537|PMID:32145446|PMID:34222376|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050700 cardiomyopathy ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050741 alcohol dependence ISO RGD:2245 D RGD:9068941 20220609 RGD mRNA, protein:increased expression:amygdala, hippocampus (rat) PMID:27905406|REF_RGD_ID:152985537 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050741 alcohol dependence ISO RGD:2245 D RGD:9068941 20220609 RGD protein:increased expression:inferior colliculus (human) PMID:25556199|REF_RGD_ID:152985539 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0050793 short QT syndrome ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short QT Syndrome 4 | ClinVar Annotator: match by term: Short QT syndrome PMID:20031608|PMID:20817017|PMID:22840528|PMID:23861362|PMID:25447171|PMID:25633834|PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060041 autism spectrum disorder ISO RGD:10268 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:7240710 20180130 OMIM 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060173 Timothy syndrome ISO RGD:10268 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CACNA1C-Related Disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 PMID:10343407|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20543828|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22020278|PMID:22106044|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23313911|PMID:23414114|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26822303|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29568937|PMID:29915097|PMID:30023270|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31737537|PMID:31805042|PMID:32145446|PMID:32161207|PMID:33488405|PMID:34163037|PMID:34222376|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:10268 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ISO RGD:10268 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ISO RGD:10268 D RGD:7240710 20221214 OMIM 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures ISO RGD:10268 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22840528|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:25633834|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27662471|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28750076|PMID:30513141|PMID:34163037 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110220 Brugada syndrome 3 ISO RGD:10268 D RGD:7240710 20180130 OMIM 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110220 Brugada syndrome 3 ISO RGD:10268 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22385640|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23313911|PMID:23414114|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24728418|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25741868|PMID:26227324|PMID:26230511|PMID:26383259|PMID:26386135|PMID:26637798|PMID:26822303|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29568937|PMID:29915097|PMID:30027834|PMID:30279520|PMID:30345660|PMID:30662450|PMID:30847666|PMID:31539150|PMID:31737537|PMID:32145446|PMID:33488405|PMID:34222376|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110644 long QT syndrome 1 ISO RGD:10268 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:23313911|PMID:23414114|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:24033266|PMID:24183960|PMID:25333069|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532|PMID:34222376 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110649 long QT syndrome 8 ISO RGD:10268 D RGD:7240710 20240228 OMIM 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:0110649 long QT syndrome 8 ISO RGD:10268 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24728418|PMID:25184293|PMID:25260352|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25741868|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26637798|PMID:26822303|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31110529|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:33488405|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:10485 esophageal atresia ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1059 intellectual disability ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:34163037 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1059 intellectual disability ISO RGD:10268 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:10652 Alzheimer's disease ISO RGD:1550302 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23403102|REF_RGD_ID:13782264 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:10763 hypertension ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:24439875|PMID:25260352|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10268 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:24439875|PMID:25260352|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532|PMID:32145446|PMID:33797204 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:12849 autistic disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:12930 dilated cardiomyopathy ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23677916|PMID:24033266|PMID:25184293|PMID:25741868|PMID:28492532|PMID:30027834 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1470 major depressive disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1826 epilepsy ISO RGD:10268 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:33818783|PMID:34163037 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:1969 cerebral palsy ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2030 anxiety disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2055 post-traumatic stress disorder ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Post-traumatic stress disorder PMID:32332995 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23414114|PMID:23575362|PMID:23631430|PMID:23677916|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27662471|PMID:27711072|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28166811|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29568937|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30847666|PMID:31130284|PMID:31408100|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:2547171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27854218|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26076356|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26076356|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34999275|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34999275|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34222376|PMID:34999275|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27854218|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34222376|PMID:34999275|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:2843 long QT syndrome ISO RGD:10268 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:36436328|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:3007 breast ductal carcinoma ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:3008 invasive ductal carcinoma ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, invasive ductal PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:3312 bipolar disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711365|PMID:21926972|PMID:21926974|PMID:31043756 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:10268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25633834|PMID:25741868|PMID:28492532|PMID:28600387|PMID:28616568|PMID:29071820|PMID:31408100|PMID:32233023 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:397 restrictive cardiomyopathy ISO RGD:10268 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:20817017|PMID:22840528|PMID:23861362|PMID:25633834|PMID:25741868|PMID:27662471|PMID:28492532|PMID:28750076 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:5419 schizophrenia ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:6000 congestive heart failure ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:6088 acute stress disorder ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:612 primary immunodeficiency disease ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:630 genetic disease ISO RGD:10268 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10343407|PMID:20543828|PMID:22020278|PMID:23861362|PMID:25260352|PMID:25633834|PMID:25741868|PMID:27920829|PMID:28492532|PMID:34163037|PMID:36436328 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:6420 pulmonary valve stenosis ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000064 Cardiac Arrhythmias ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24690944|PMID:25741868|PMID:26253506|PMID:27218670|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9000495 Tremor ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intention tremor 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9001366 Psychomotor Agitation ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9002231 Fetal Growth Retardation ISO RGD:2245 D RGD:9068941 20220609 RGD protein:decreased expression:pancreas (rat) PMID:20873977|REF_RGD_ID:152985538 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9002775 Cognitive Dysfunction ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28696432 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:10268 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17224476|PMID:17576681|PMID:20817017|PMID:22581653|PMID:22840528|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24183960|PMID:25333069|PMID:25633834|PMID:25637381|PMID:25741868|PMID:27231019|PMID:27662471|PMID:28341588|PMID:28492532|PMID:28750076|PMID:30279520|PMID:31293105|PMID:31539150|PMID:31737537|PMID:32145446|PMID:34222376|PMID:9536098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9003163 Heart Block ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:10268 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25260352|PMID:25741868|PMID:34163037 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9004730 Romano-Ward Syndrome ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:18250309|PMID:19074970|PMID:21307850|PMID:21878566|PMID:21910241|PMID:22581653|PMID:23313911|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:25741868|PMID:26227324|PMID:26822303|PMID:27593853|PMID:27868338|PMID:28211989|PMID:28371864|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9005077 Joint Instability ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint laxity 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9005141 Ventricular Tachycardia ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25260352|PMID:25741868|PMID:28492532|PMID:28704380|PMID:31737537 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9005466 Language Development Disorders ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Expressive language delay 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9006294 Congenital Limb Deformities ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:10268 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007820 Sudden Death ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007925 Sudden Cardiac Death ISO RGD:10268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:10268 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9120 amyloidosis ISO RGD:10268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:25741868|PMID:28492532 8700081 Cacna1c calcium voltage-gated channel subunit alpha1 C gene DOID:9993 hypoglycemia ISO RGD:10268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15454078 8700157 Brdt bromodomain testis associated gene DOID:0070163 spermatogenic failure 21 ISO RGD:1315431 D RGD:7240710 20190315 OMIM 8700157 Brdt bromodomain testis associated gene DOID:0070163 spermatogenic failure 21 ISO RGD:1315431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 21 PMID:28199965 8700157 Brdt bromodomain testis associated gene DOID:14227 azoospermia ISO RGD:1315431 D RGD:9068941 20200609 RGD protein:decreased expression:testis: PMID:22035730|REF_RGD_ID:9586359 8700157 Brdt bromodomain testis associated gene DOID:14227 azoospermia susceptibility ISO RGD:1315431 D RGD:9068941 20200609 RGD DNA:SNP: :rs3088232(human) PMID:22016351|REF_RGD_ID:9586360 8700157 Brdt bromodomain testis associated gene DOID:14228 oligospermia susceptibility ISO RGD:1315431 D RGD:9068941 20200609 RGD DNA:SNP: :rs3088232(human) PMID:22016351|REF_RGD_ID:9586360 8700157 Brdt bromodomain testis associated gene DOID:5426 primary ovarian insufficiency ISO RGD:1315431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8700157 Brdt bromodomain testis associated gene DOID:630 genetic disease ISO RGD:1315431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700190 Opn1sw opsin 1, short wave sensitive gene DOID:0060224 atrial fibrillation ISO RGD:736424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8700190 Opn1sw opsin 1, short wave sensitive gene DOID:11661 blue color blindness ISO RGD:736424 D RGD:7240710 20180130 OMIM 8700190 Opn1sw opsin 1, short wave sensitive gene DOID:11661 blue color blindness ISO RGD:736424 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Blue color blindness PMID:1386496|PMID:1531728|PMID:25741868|PMID:28492532|PMID:2937147|PMID:31816670 8700190 Opn1sw opsin 1, short wave sensitive gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8700190 Opn1sw opsin 1, short wave sensitive gene DOID:630 genetic disease ISO RGD:736424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8700199 Clta clathrin light chain A gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8700199 Clta clathrin light chain A gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8700199 Clta clathrin light chain A gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733774 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8700199 Clta clathrin light chain A gene DOID:0080600 COVID-19 ISO RGD:733774 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8700199 Clta clathrin light chain A gene DOID:0080942 anauxetic dysplasia ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8700199 Clta clathrin light chain A gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8700199 Clta clathrin light chain A gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:733774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8700199 Clta clathrin light chain A gene DOID:630 genetic disease ISO RGD:733774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700199 Clta clathrin light chain A gene DOID:9562 primary ciliary dyskinesia ISO RGD:733774 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8700199 Clta clathrin light chain A gene DOID:9870 galactosemia ISO RGD:733774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1342520 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:19610081|PMID:24183451|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29241935|PMID:32576942 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24183449|PMID:24183451|PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22722545|PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:31332438|PMID:33206935|PMID:33578420 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1342520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:29068549 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:1342520 D RGD:7240710 20180130 OMIM 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly PMID:17576681|PMID:19610081|PMID:24183449|PMID:24183451|PMID:25741868|PMID:28379358|PMID:28492532|PMID:29068549|PMID:29241935|PMID:32576942|PMID:33578420|PMID:9536098 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22722545|PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:31332438|PMID:33206935|PMID:33578420 8700207 Dync2i2 dynein 2 intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1342520 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1319222 D RGD:9068941 20200609 RGD DNA:SNPs:cds:multiple(human) PMID:30541770|REF_RGD_ID:13831344 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:5409 lung small cell carcinoma ISO RGD:1319222 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8700225 Col22a1 collagen type XXII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1319222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:735373 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32368696 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:735373 D RGD:7240710 20180718 OMIM 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:735373 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: BMPR2-related condition | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant PMID:10903931|PMID:11115378|PMID:11502704|PMID:12045205|PMID:12446270|PMID:14985116|PMID:15059534|PMID:15591269|PMID:15965979|PMID:16429395|PMID:16429403|PMID:18356561|PMID:18626305|PMID:19555857|PMID:20002458|PMID:20096498|PMID:20534176|PMID:21737554|PMID:21801371|PMID:23298310|PMID:24292273|PMID:25741868|PMID:26387786|PMID:28388887|PMID:28492532|PMID:28507310|PMID:31727138|PMID:32581362|PMID:3291115 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0081269 pulmonary venoocclusive disease 2 ISO RGD:735373 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis PMID:18626305|PMID:24292273 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:11613 hyperandrogenism ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:735373 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated | ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12358323|PMID:12417513|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19206171|PMID:19223935|PMID:19324947|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20096498|PMID:20534176|PMID:21070126|PMID:21228398|PMID:21737554|PMID:21801371|PMID:21920918|PMID:22632830|PMID:22995991|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24936649|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25640679|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26645265|PMID:26699722|PMID:26820968|PMID:27453251|PMID:27630060|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28480048|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30578397|PMID:30679663|PMID:30957726|PMID:31727138|PMID:31797984|PMID:32581362|PMID:3291115|PMID:33066286|PMID:34400635|PMID:9536098 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:1681 heart septal defect ISO RGD:735373 D RGD:9068941 20200609 RGD PMID:21070126|REF_RGD_ID:5129230 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:1826 epilepsy ISO RGD:735373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:12358323|PMID:25741868|PMID:28492532 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:2841 asthma ISO RGD:735373 D RGD:9068941 20200609 RGD protein:decreased expression:bronchus PMID:18292470|REF_RGD_ID:5129470 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:341 peripheral vascular disease ISO RGD:735374 D RGD:9068941 20200609 RGD PMID:18723761|REF_RGD_ID:5129473 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735373 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735373 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32368696 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:630 genetic disease ISO RGD:735373 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:71082 D RGD:9068941 20200924 RGD protein:decreased expression:lung PMID:25593290|REF_RGD_ID:38500244 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:71082 D RGD:9068941 20201211 RGD induced by human ad-ALOX5 PMID:31462075|REF_RGD_ID:14975304 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11590841|PMID:11893684|PMID:12358323|PMID:16297860|PMID:20496075|PMID:20522807|PMID:23383100|PMID:23502781|PMID:24224048 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:9068941 20200609 RGD PMID:15775752|PMID:19324947|REF_RGD_ID:1580076|REF_RGD_ID:5129472 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:9068941 20200609 RGD DNA:mutations: :multiple (human) PMID:20002458|PMID:20534176|REF_RGD_ID:5129237|REF_RGD_ID:5129238 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension ISO RGD:735374 D RGD:9068941 20200609 RGD PMID:18663089|REF_RGD_ID:5129474 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:735373 D RGD:9068941 20200609 RGD DNA:missense mutations (human) PMID:19785764|REF_RGD_ID:5129239 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:735373 D RGD:9068941 20201001 RGD PMID:21737550|REF_RGD_ID:38500243 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9000998 Brain Injuries ISO RGD:71082 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus, neuron PMID:9080432|REF_RGD_ID:5129488 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:735373 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12358323|PMID:12417513|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16717148|PMID:17515463|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19555857|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20534176|PMID:21737554|PMID:21801371|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24591673|PMID:25187962|PMID:25326637|PMID:25429696|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:26645265|PMID:27884767|PMID:28388887|PMID:28480048|PMID:28492532|PMID:29631995|PMID:29650961|PMID:29843651|PMID:30029678|PMID:30578397|PMID:31727138|PMID:32581362|PMID:3291115 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:735374 D RGD:9068941 20230608 RGD PMID:23867624|REF_RGD_ID:329848996 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:71082 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus, granule cell PMID:10996456|REF_RGD_ID:5129486 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9004771 Vascular Remodeling ISO RGD:71082 D RGD:9068941 20201211 RGD PMID:25593290|REF_RGD_ID:38500244 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:735373 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 1 PMID:19555857|PMID:20002458|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71082 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21521772|REF_RGD_ID:5135278 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:735373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9008582 Developmental Disease ISO RGD:735373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9008763 Femoral Fractures ISO RGD:71082 D RGD:9068941 20200609 RGD PMID:9626398|REF_RGD_ID:2289041 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9008939 Breast Neoplasms ISO RGD:735373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:735373 D RGD:7240710 20180905 OMIM 8700292 Bmpr2 bone morphogenetic protein receptor type 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:735373 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12358323|PMID:12417513|PMID:12446270|PMID:12821254|PMID:14516151|PMID:14583445|PMID:14985116|PMID:15055271|PMID:15059534|PMID:15146475|PMID:15170098|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18221724|PMID:18321866|PMID:18356561|PMID:18364108|PMID:18386374|PMID:18503968|PMID:18792970|PMID:19206171|PMID:19223935|PMID:19324947|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20496075|PMID:20534176|PMID:21070126|PMID:21228398|PMID:21737554|PMID:21801371|PMID:22632830|PMID:22995991|PMID:23139147|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24591673|PMID:24853021|PMID:24936649|PMID:25187962|PMID:25326637|PMID:25429696|PMID:25612240|PMID:25640679|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26645265|PMID:26699722|PMID:27002414|PMID:27453251|PMID:27630060|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28391780|PMID:28480048|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30578397|PMID:30679663|PMID:31727138|PMID:31797984|PMID:32581362|PMID:3291115|PMID:33066286|PMID:33380512|PMID:9536098 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1345643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:4450 renal cell carcinoma ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18404682 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:5844 myocardial infarction ISO RGD:1550582 D RGD:9068941 20230204 RGD PMID:19079247|REF_RGD_ID:155883169 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:5844 myocardial infarction ISO RGD:735163 D RGD:9068941 20200609 RGD PMID:19109969|REF_RGD_ID:4107088 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:630 genetic disease ISO RGD:1345643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735163 D RGD:9068941 20200609 RGD PMID:19109969|REF_RGD_ID:4107088 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031|PMID:18716850 8700315 Sfrp2 secreted frizzled related protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1345643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 8700322 Foxh1 forkhead box H1 gene DOID:0050545 visceral heterotaxy ISO RGD:1322646 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8700322 Foxh1 forkhead box H1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1322646 D RGD:9068941 20220825 MouseDO OMIM:202650 8700322 Foxh1 forkhead box H1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8700322 Foxh1 forkhead box H1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8700322 Foxh1 forkhead box H1 gene DOID:4621 holoprosencephaly ISO RGD:1322645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:18538293|PMID:25741868|PMID:28492532 8700322 Foxh1 forkhead box H1 gene DOID:630 genetic disease ISO RGD:1322645 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8700322 Foxh1 forkhead box H1 gene DOID:6419 tetralogy of Fallot ISO RGD:1322645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 8700322 Foxh1 forkhead box H1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conotruncal defect PMID:25741868|PMID:32003456 8700353 Klhdc8a kelch domain containing 8A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8700353 Klhdc8a kelch domain containing 8A gene DOID:12849 autistic disorder ISO RGD:1605377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8700353 Klhdc8a kelch domain containing 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1605377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8700353 Klhdc8a kelch domain containing 8A gene DOID:630 genetic disease ISO RGD:1605377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700353 Klhdc8a kelch domain containing 8A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8700353 Klhdc8a kelch domain containing 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8700369 Tsga13 testis specific 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8700369 Tsga13 testis specific 13 gene DOID:630 genetic disease ISO RGD:1314383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700387 Dgkz diacylglycerol kinase zeta gene DOID:0050444 infantile Refsum disease ISO RGD:733860 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8700387 Dgkz diacylglycerol kinase zeta gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8700387 Dgkz diacylglycerol kinase zeta gene DOID:1059 intellectual disability ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8700387 Dgkz diacylglycerol kinase zeta gene DOID:5844 myocardial infarction ISO RGD:733860 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17071729 8700387 Dgkz diacylglycerol kinase zeta gene DOID:630 genetic disease ISO RGD:733860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8700387 Dgkz diacylglycerol kinase zeta gene DOID:9002669 Hypoxia ISO RGD:70929 D RGD:9068941 20200609 RGD protein:decreased dimerization:hippocampus (rat) PMID:24893663|REF_RGD_ID:9590077 8700387 Dgkz diacylglycerol kinase zeta gene DOID:9008086 Developmental Disabilities ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8700387 Dgkz diacylglycerol kinase zeta gene DOID:905 Zellweger syndrome ISO RGD:733860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:3883 Lynch syndrome ISO RGD:1602705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8700440 Srbd1 S1 RNA binding domain 1 gene DOID:630 genetic disease ISO RGD:1602705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:0111546 Currarino syndrome ISO RGD:1602466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:10283 prostate cancer ISO RGD:1602466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:630 genetic disease ISO RGD:1602466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700475 Zmat3 zinc finger matrin-type 3 gene DOID:9002955 Nerve Degeneration ISO RGD:1602466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17234339 8700490 Pdap1 PDGFA associated protein 1 gene DOID:3070 high grade glioma severity ISO RGD:733658 D RGD:9068941 20200609 RGD PMID:27448842|REF_RGD_ID:13702895 8700490 Pdap1 PDGFA associated protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8700490 Pdap1 PDGFA associated protein 1 gene DOID:630 genetic disease ISO RGD:733658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080205 CAKUT ISO RGD:1552833 D RGD:9068941 20220825 MouseDO 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080545 hyper IgE syndrome ISO RGD:1348830 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:33290277 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1348830 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:33290277 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:0080600 COVID-19 ISO RGD:1348830 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:5419 schizophrenia ISO RGD:1348830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8700500 Zng1a Zn regulated GTPase metalloprotein activator 1A gene DOID:630 genetic disease ISO RGD:1348830 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:630 genetic disease ISO RGD:1605319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700530 Tp53i13 tumor protein p53 inducible protein 13 gene DOID:9008582 Developmental Disease ISO RGD:1605319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0111754 Leber plus disease ISO RGD:1553854 D RGD:9068941 20220825 MouseDO 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:12849 autistic disorder ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:630 genetic disease ISO RGD:1350042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1350042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:32516135 8700541 Prickle3 prickle planar cell polarity protein 3 gene DOID:9004196 Leber Optic Atrophy, Susceptibility To ISO RGD:1350042 D RGD:7240710 20220309 OMIM 8700566 Rnf38 ring finger protein 38 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8700566 Rnf38 ring finger protein 38 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:737292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8700566 Rnf38 ring finger protein 38 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8700566 Rnf38 ring finger protein 38 gene DOID:630 genetic disease ISO RGD:737292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700566 Rnf38 ring finger protein 38 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737292 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8700566 Rnf38 ring finger protein 38 gene DOID:9870 galactosemia ISO RGD:737292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8700604 H3f3b H3 histone, family 3B gene DOID:2649 chondroblastoma ISO RGD:733608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24162739 8700604 H3f3b H3 histone, family 3B gene DOID:305 carcinoma ISO RGD:733609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8700604 H3f3b H3 histone, family 3B gene DOID:630 genetic disease ISO RGD:733608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:9000402 Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 ISO RGD:733608 D RGD:7240710 20220223 OMIM 8700604 H3f3b H3 histone, family 3B gene DOID:9000402 Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 ISO RGD:733608 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 2 | ClinVar Annotator: match by term: H3-3B-related condition PMID:25741868|PMID:33268356|PMID:34876591 8700604 H3f3b H3 histone, family 3B gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8700604 H3f3b H3 histone, family 3B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8700604 H3f3b H3 histone, family 3B gene DOID:9008086 Developmental Disabilities ISO RGD:733608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33268356|PMID:34876591 8700638 Cdh12 cadherin 12 gene DOID:630 genetic disease ISO RGD:1343875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700638 Cdh12 cadherin 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8700638 Cdh12 cadherin 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1350465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:1350465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:13189 gout ISO RGD:1350465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983786 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:1920 hyperuricemia ISO RGD:1350465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 8700662 Aldh16a1 aldehyde dehydrogenase 16 family member A1 gene DOID:630 genetic disease ISO RGD:1350465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:0110794 hereditary spastic paraplegia 42 ISO RGD:732825 D RGD:7240710 20180130 OMIM 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:0110794 hereditary spastic paraplegia 42 ISO RGD:732825 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 42 PMID:19061983|PMID:24583203|PMID:25402622|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35588347 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:732825 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:24583203|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35588347 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:607 paraplegia ISO RGD:732825 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:22243965|PMID:24583203|PMID:25741868|PMID:26467025|PMID:27306358|PMID:28492532|PMID:35588347|PMID:35999711 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:630 genetic disease ISO RGD:732825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:83 cataract ISO RGD:732825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9004538 Hearing Loss ISO RGD:732825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9005895 Congenital Cataracts, Hearing Loss, and Neurodegeneration ISO RGD:732825 D RGD:7240710 20180130 OMIM 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9005895 Congenital Cataracts, Hearing Loss, and Neurodegeneration ISO RGD:732825 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Huppke-Brendel syndrome PMID:15902551|PMID:22243965|PMID:22508683|PMID:24753537|PMID:25741868|PMID:28492532|PMID:31194315 8700689 Slc33a1 solute carrier family 33 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 8700706 Otos otospiralin gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8700706 Otos otospiralin gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8700706 Otos otospiralin gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1349689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8700706 Otos otospiralin gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1349689 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8700706 Otos otospiralin gene DOID:1059 intellectual disability ISO RGD:1349689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8700706 Otos otospiralin gene DOID:630 genetic disease ISO RGD:1349689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700706 Otos otospiralin gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1349689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8700722 Sike1 suppressor of IKBKE 1 gene DOID:0080690 RASopathy ISO RGD:1602207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8700722 Sike1 suppressor of IKBKE 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1602207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8700722 Sike1 suppressor of IKBKE 1 gene DOID:630 genetic disease ISO RGD:1602207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0050674 congenital bile acid synthesis defect ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect PMID:25741868|PMID:28492532 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0050952 spastic ataxia ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:735270 D RGD:7240710 20180130 OMIM 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:735270 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:12874406|PMID:15007371|PMID:16199547|PMID:17503452|PMID:17576681|PMID:18252231|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439320|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21452256|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:22652365|PMID:23812641|PMID:24033266|PMID:24117163|PMID:24340040|PMID:24519355|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25324891|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26374131|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29482223|PMID:29980238|PMID:31227335|PMID:31407473|PMID:31589614|PMID:31980526|PMID:32202070|PMID:33160247|PMID:34426522|PMID:7987300|PMID:9536098|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0110998 Joubert syndrome 3 ISO RGD:735270 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:19439420|PMID:21214876|PMID:21541746|PMID:24519355|PMID:25326637|PMID:25741868|PMID:28492532 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0111070 congenital bile acid synthesis defect 3 ISO RGD:735270 D RGD:7240710 20180130 OMIM 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0111070 congenital bile acid synthesis defect 3 ISO RGD:735270 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 PMID:18252231|PMID:18367963|PMID:19363635|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21541746|PMID:21567895|PMID:21623769|PMID:22384504|PMID:23812641|PMID:24117163|PMID:24641183|PMID:24927729|PMID:25741868|PMID:26467025|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29228183|PMID:29980238|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:13580 cholestasis ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:2476 hereditary spastic paraplegia ISO RGD:735270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:12874406|PMID:15007371|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:23812641|PMID:24033266|PMID:24117163|PMID:2411763|PMID:24340040|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27957547|PMID:28492532|PMID:28832565|PMID:29228183|PMID:29980238|PMID:7987300 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:2476 hereditary spastic paraplegia ISO RGD:735270 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:12874406|PMID:15007371|PMID:17503452|PMID:17576681|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:23812641|PMID:24033266|PMID:24117163|PMID:24340040|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25324891|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29980238|PMID:31589614|PMID:32202070|PMID:33160247|PMID:34426522|PMID:7987300|PMID:9536098|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:299 adenocarcinoma ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:3146 lipid metabolism disorder ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252231 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:409 liver disease ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:607 paraplegia ISO RGD:735270 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15007371|PMID:16199547|PMID:17503452|PMID:17576681|PMID:18252231|PMID:18367963|PMID:18855023|PMID:19187859|PMID:19363635|PMID:19439320|PMID:1943942|PMID:19439420|PMID:19812052|PMID:21214876|PMID:21452256|PMID:21541746|PMID:21567895|PMID:21623769|PMID:21966169|PMID:22384504|PMID:22652365|PMID:23812641|PMID:24033266|PMID:24117163|PMID:24340040|PMID:24482476|PMID:24519355|PMID:24641183|PMID:24658845|PMID:24927729|PMID:25324891|PMID:25326635|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26370385|PMID:26374131|PMID:26467025|PMID:26714052|PMID:27077743|PMID:27217339|PMID:27879216|PMID:27879220|PMID:27957547|PMID:28039895|PMID:28492532|PMID:28832565|PMID:29126212|PMID:29228183|PMID:29246610|PMID:29482223|PMID:29980238|PMID:31227335|PMID:31407473|PMID:31589614|PMID:31980526|PMID:33160247|PMID:34426522|PMID:7987300|PMID:9536098|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:630 genetic disease ISO RGD:735270 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18367963|PMID:19363635|PMID:19439420|PMID:21541746|PMID:21567895|PMID:24117163|PMID:24641183|PMID:25741868|PMID:26467025|PMID:28039895|PMID:28492532|PMID:29980238|PMID:33160247|PMID:9802883 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 8700733 LOC102022645 25-hydroxycholesterol 7-alpha-hydroxylase gene DOID:9452 steatotic liver disease ISO RGD:735270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23391614 8700766 Smim18 small integral membrane protein 18 gene DOID:630 genetic disease ISO RGD:7204607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0050938 breast lobular carcinoma ISO RGD:737523 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0060071 pre-malignant neoplasm ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0060074 ductal carcinoma in situ ISO RGD:737523 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:16133357|REF_RGD_ID:2291930 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:737523 D RGD:9068941 20220407 RGD protein:increased phosphorylation:bone marrow (human) PMID:27018255|REF_RGD_ID:151665817 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:737523 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0080909 castration-resistant prostate carcinoma disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD DNA:CNV: :prostate (human) PMID:23660011|REF_RGD_ID:151667415 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:11351 D RGD:9068941 20220414 RGD PMID:23660011|REF_RGD_ID:151667415 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:10283 prostate cancer disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD DNA:CNV: :prostate (human) PMID:23660011|REF_RGD_ID:151667415 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:10485 esophageal atresia ISO RGD:737523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:234 colon adenocarcinoma ISO RGD:737523 D RGD:9068941 20220812 RGD DNA:SNP:intron: (rs7217728) (human) PMID:22121102|REF_RGD_ID:153323313 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:299 adenocarcinoma ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20235097|PMID:21552421 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:305 carcinoma ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942|PMID:17173897 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:3068 glioblastoma disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD mRNA, protein:increased expression:brain (human) PMID:31783691|REF_RGD_ID:151667907 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:3068 glioblastoma treatment ISO RGD:737523 D RGD:9068941 20220414 RGD human cells in mouse model PMID:31783691|REF_RGD_ID:151667907 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant PMID:28492532 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:3457 invasive lobular carcinoma ISO RGD:737523 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:737523 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:630 genetic disease ISO RGD:737523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:11351 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:707 B-cell lymphoma ISO RGD:11351 D RGD:9068941 20220407 RGD PMID:27018255|REF_RGD_ID:151665817 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia ISO RGD:737523 D RGD:9068941 20220414 RGD mRNA:increased expression:PBMC (human) PMID:31952546|REF_RGD_ID:151667904 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:11351 D RGD:9068941 20220414 RGD PMID:16522816|REF_RGD_ID:151667903 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:737523 D RGD:9068941 20220414 RGD human cells in mouse model PMID:31952546|REF_RGD_ID:151667904 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:15609129|PMID:16316942|PMID:17173897|PMID:20235097 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737523 D RGD:9068941 20220414 RGD DNA:CNV: :prostate (human) PMID:23660011|REF_RGD_ID:151667415 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3773 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9004009 Reperfusion Injury ISO RGD:3773 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9004713 Acute-Phase Reaction ISO RGD:3773 D RGD:9068941 20220331 RGD protein:increased expression:liver (rat) PMID:7519723|REF_RGD_ID:151665740 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005172 Lung Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11351 D RGD:9068941 20220407 RGD PMID:20181624|REF_RGD_ID:151665819 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:mammary gland PMID:17173897|REF_RGD_ID:2291927 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3773 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:15609129|PMID:16316942 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:11351 D RGD:9068941 20200609 RGD PMID:12082622|REF_RGD_ID:2298539 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737523 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9007102 Myocardial Ischemia ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15746188 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9008138 Ductal Carcinoma ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609129 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:15609129|REF_RGD_ID:2291932 8700775 Stat5a signal transducer and activator of transcription 5A gene DOID:9008939 Breast Neoplasms ISO RGD:737523 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:16133357|REF_RGD_ID:2291930 8700836 Rps26 ribosomal protein S26 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1344988 D RGD:7240710 20180130 OMIM 8700836 Rps26 ribosomal protein S26 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1344988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:16199547|PMID:17483715|PMID:17576681|PMID:19816270|PMID:20116044|PMID:21414820|PMID:22045982|PMID:22381658|PMID:22689679|PMID:23718193|PMID:23812780|PMID:24675553|PMID:24942156|PMID:25741868|PMID:26136524|PMID:28102861|PMID:28492532|PMID:29114930|PMID:9536098 8700836 Rps26 ribosomal protein S26 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:1344988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:17483715|PMID:19816270|PMID:20116044|PMID:23718193|PMID:24675553|PMID:24942156|PMID:28492532 8700836 Rps26 ribosomal protein S26 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1344988 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:19816270|PMID:20116044|PMID:22381658|PMID:23718193|PMID:24675553|PMID:24942156|PMID:25741868|PMID:26136524|PMID:26604301|PMID:27329125|PMID:28102861|PMID:28492532 8700836 Rps26 ribosomal protein S26 gene DOID:2355 anemia ISO RGD:1344988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 8700836 Rps26 ribosomal protein S26 gene DOID:4961 bone marrow disease ISO RGD:1344988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868 8700836 Rps26 ribosomal protein S26 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8700836 Rps26 ribosomal protein S26 gene DOID:9000918 Disease Progression ISO RGD:1344988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:733356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0112333 pontocerebellar hypoplasia type 16 ISO RGD:733356 D RGD:7240710 20211006 OMIM 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:0112333 pontocerebellar hypoplasia type 16 ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 16 PMID:25741868|PMID:33168985|PMID:33257696 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:2891 thyroid adenoma ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid adenoma PMID:11297621 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:37 skin disease ISO RGD:733356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:630 genetic disease ISO RGD:733356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:733356 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:11297621|REF_RGD_ID:737769 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:733356 D RGD:7240710 20180130 OMIM 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:733356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:11297621 8700844 Minpp1 multiple inositol-polyphosphate phosphatase 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:733356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:32314272|PMID:33909043|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25326637|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28492532|PMID:28493438|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:32314272|PMID:32376792|PMID:32403337|PMID:32571458|PMID:33294374|PMID:33909043|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:20045102|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:6492094|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312500 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27164712|PMID:27549087|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30214071|PMID:30373780|PMID:31130284|PMID:31791873|PMID:31827005|PMID:32314272|PMID:32376792|PMID:32571458|PMID:33294374|PMID:33753480|PMID:33909043|PMID:34446925|PMID:34645488|PMID:34650302|PMID:6492094|PMID:7842019|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0080451 developmental and epileptic encephalopathy 29 ISO RGD:1312500 D RGD:7240710 20180130 OMIM 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0080451 developmental and epileptic encephalopathy 29 ISO RGD:1312500 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 PMID:21494555|PMID:25741868|PMID:25817015|PMID:28166811|PMID:28492532|PMID:28493438|PMID:29653220|PMID:31791873|PMID:32571458|PMID:33294374|PMID:34446925 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids PMID:31775912|PMID:6595937 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N ISO RGD:1312500 D RGD:7240710 20180130 OMIM 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N ISO RGD:1312500 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:22206013|PMID:22573628|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25741868|PMID:25817015|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:31827005|PMID:32314272|PMID:32376792|PMID:33294374|PMID:34446925|PMID:7842019|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1312500 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:20045102|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25783436|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:32314272|PMID:32376792|PMID:32403337|PMID:33294374|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1312500 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:20045102|PMID:21208200|PMID:21494555|PMID:22009580|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25817015|PMID:25904691|PMID:26032230|PMID:26257172|PMID:26752306|PMID:27549087|PMID:28492532|PMID:29653220|PMID:30124830|PMID:32314272|PMID:32376792|PMID:33294374|PMID:33753480|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:11836 clubfoot ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1312500 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:21494555|PMID:22009580|PMID:22206013|PMID:25025039|PMID:25741868|PMID:25817015|PMID:26257172|PMID:26752306|PMID:27993330|PMID:28166811|PMID:28492532|PMID:28493438|PMID:28902413|PMID:29653220|PMID:30124830|PMID:30373780|PMID:31827005|PMID:32376792|PMID:33294374|PMID:34446925|PMID:9536098 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:870 neuropathy ISO RGD:1312500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:27993330|PMID:28492532|PMID:29653220|PMID:30124830|PMID:31827005 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9002363 Nonphotosensitive Trichothiodystrophy 8 ISO RGD:1312500 D RGD:7240710 20220112 OMIM 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9002363 Nonphotosensitive Trichothiodystrophy 8 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 8, nonphotosensitive PMID:28492532|PMID:33909043|PMID:6492094 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9008175 Hereditary Diffuse Leukoencephalopathy with Spheroids 2 ISO RGD:1312500 D RGD:7240710 20220112 OMIM 8700856 Aars1 alanyl-tRNA synthetase 1 gene DOID:9008175 Hereditary Diffuse Leukoencephalopathy with Spheroids 2 ISO RGD:1312500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, hereditary diffuse, with spheroids 2 PMID:31775912|PMID:6595937 8700881 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:630 genetic disease ISO RGD:1321170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700881 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8700881 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8700881 Nif3l1 NGG1 interacting factor 3 like 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1321170 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0050745 diffuse large B-cell lymphoma no_association ISO RGD:735440 D RGD:9068941 20200609 RGD SNA:polymorphism(s) PMID:15198731|REF_RGD_ID:2298905 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Liver Neoplasms PMID:20045035|REF_RGD_ID:10413878 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0080600 COVID-19 ISO RGD:735440 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0080815 childhood-onset asthma exacerbates ISO RGD:735440 D RGD:9068941 20210618 RGD associated with respiratory syncytial virus infectious disease;DNA:SNPs:protomer: (rs2233409) (human) PMID:23487427|REF_RGD_ID:40902982 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19174608|REF_RGD_ID:10414072 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:735440 D RGD:7240710 20180130 OMIM 8700891 Nfkbia NFKB inhibitor alpha gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:735440 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant PMID:14523047|PMID:15337789|PMID:17576681|PMID:17931563|PMID:18412279|PMID:23708964|PMID:23864385|PMID:23870671|PMID:24033266|PMID:25601653|PMID:25741868|PMID:26888281|PMID:28417298|PMID:28492532|PMID:28629746|PMID:29948576|PMID:32581362|PMID:32750042|PMID:9536098 8700891 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer ISO RGD:735440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8700891 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer disease_progression ISO RGD:735440 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation PMID:23093296|REF_RGD_ID:13506767 8700891 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer no_association ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2233406, rs3138053 (human) PMID:26834482|REF_RGD_ID:13506766 8700891 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer no_association ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:polymorphism:3' UTR PMID:26068031|REF_RGD_ID:11054182 8700891 Nfkbia NFKB inhibitor alpha gene DOID:10283 prostate cancer susceptibility ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-826C>T, -881A>G (human) PMID:26068031|REF_RGD_ID:11054182 8700891 Nfkbia NFKB inhibitor alpha gene DOID:10763 hypertension treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19246475|REF_RGD_ID:7495780 8700891 Nfkbia NFKB inhibitor alpha gene DOID:11383 cryptorchidism ISO RGD:10975 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:22777528|REF_RGD_ID:11567213 8700891 Nfkbia NFKB inhibitor alpha gene DOID:11446 sciatic neuropathy treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:18938092|REF_RGD_ID:10413869 8700891 Nfkbia NFKB inhibitor alpha gene DOID:11650 bronchopulmonary dysplasia exacerbates ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:SNPs:promoter: (rs2233406, rs2233409) (human) PMID:23487427|REF_RGD_ID:40902982 8700891 Nfkbia NFKB inhibitor alpha gene DOID:1184 nephrotic syndrome exacerbates ISO RGD:735440 D RGD:9068941 20210625 RGD protein:decreased expression:peripheral blood mononuclear cell (human) PMID:17441336|REF_RGD_ID:127285019 8700891 Nfkbia NFKB inhibitor alpha gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8700891 Nfkbia NFKB inhibitor alpha gene DOID:12894 Sjogren's syndrome ISO RGD:10975 D RGD:9068941 20210514 RGD PMID:20696914|REF_RGD_ID:126908016 8700891 Nfkbia NFKB inhibitor alpha gene DOID:12894 Sjogren's syndrome ISO RGD:10975 D RGD:9068941 20220825 MouseDO OMIM:270150 8700891 Nfkbia NFKB inhibitor alpha gene DOID:1324 lung cancer susceptibility ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-826C>T,-881A>G (human) PMID:26870106|REF_RGD_ID:13793394 8700891 Nfkbia NFKB inhibitor alpha gene DOID:13250 diarrhea ameliorates ISO RGD:735440 D RGD:9068941 20210521 RGD human gene in a mouse model PMID:20008138|REF_RGD_ID:126925947 8700891 Nfkbia NFKB inhibitor alpha gene DOID:14115 toxic shock syndrome treatment ISO RGD:3171 D RGD:9068941 20210604 RGD PMID:11961112|REF_RGD_ID:126928137 8700891 Nfkbia NFKB inhibitor alpha gene DOID:1793 pancreatic cancer ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15861417 8700891 Nfkbia NFKB inhibitor alpha gene DOID:1883 hepatitis C susceptibility ISO RGD:735440 D RGD:9068941 20201218 RGD DNA:deletion:promoter: (rs28362491) (human) PMID:30056167|REF_RGD_ID:40902826 8700891 Nfkbia NFKB inhibitor alpha gene DOID:1909 melanoma ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:insertion(s) PMID:17492467|REF_RGD_ID:2298900 8700891 Nfkbia NFKB inhibitor alpha gene DOID:2043 hepatitis B susceptibility ISO RGD:735440 D RGD:9068941 20210604 RGD DNA:SNPs:promoter:-826C>T, -881A>G (rs2233406, rs3138053) (human) PMID:25223483|REF_RGD_ID:40902986 8700891 Nfkbia NFKB inhibitor alpha gene DOID:2316 brain ischemia ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628779 8700891 Nfkbia NFKB inhibitor alpha gene DOID:2349 arteriosclerosis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8700891 Nfkbia NFKB inhibitor alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:10975 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation PMID:15712212|REF_RGD_ID:2298768 8700891 Nfkbia NFKB inhibitor alpha gene DOID:2526 prostate adenocarcinoma severity ISO RGD:735440 D RGD:9068941 20200609 RGD PMID:15073126|REF_RGD_ID:13506768 8700891 Nfkbia NFKB inhibitor alpha gene DOID:289 endometriosis ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:23954358|REF_RGD_ID:10413877 8700891 Nfkbia NFKB inhibitor alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:735440 D RGD:9068941 20210514 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:9379002|REF_RGD_ID:126908014 8700891 Nfkbia NFKB inhibitor alpha gene DOID:3068 glioblastoma treatment ISO RGD:735440 D RGD:9068941 20210625 RGD human cell line in a mouse model PMID:15692608|REF_RGD_ID:127285387 8700891 Nfkbia NFKB inhibitor alpha gene DOID:3310 atopic dermatitis ISO RGD:10975 D RGD:9068941 20220825 MouseDO OMIM:603165 8700891 Nfkbia NFKB inhibitor alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:21122797|REF_RGD_ID:10413868 8700891 Nfkbia NFKB inhibitor alpha gene DOID:4029 gastritis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Helicobacter Infections PMID:25335260|REF_RGD_ID:10413874 8700891 Nfkbia NFKB inhibitor alpha gene DOID:552 pneumonia susceptibility ISO RGD:735440 D RGD:9068941 20210528 RGD associated with combined immunodeficiency;DNA:missense mutation:CDS:c.106T>G (p.S36A) (human) PMID:31683054|REF_RGD_ID:126925985 8700891 Nfkbia NFKB inhibitor alpha gene DOID:5844 myocardial infarction treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19616538|REF_RGD_ID:10413879 8700891 Nfkbia NFKB inhibitor alpha gene DOID:612 primary immunodeficiency disease ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17931563|PMID:25741868|PMID:28492532|PMID:28629746|PMID:32581362 8700891 Nfkbia NFKB inhibitor alpha gene DOID:630 genetic disease ISO RGD:735440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8700891 Nfkbia NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22022477 8700891 Nfkbia NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735440 D RGD:9068941 20201211 RGD associated with Chronic Hepatitis B;DNA:SNPs,haplotype:3'utr,promoter: 826C>T,881A>G (rs2233406,rs3138053) (human) PMID:19797428|REF_RGD_ID:40400751 8700891 Nfkbia NFKB inhibitor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735440 D RGD:9068941 20210604 RGD associated with hepatitis B;DNA:SNP:promoter:-826C>T (rs2233406) (human) PMID:25223483|REF_RGD_ID:40902986 8700891 Nfkbia NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223558 8700891 Nfkbia NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:9068941 20200609 RGD PMID:10340377|REF_RGD_ID:2298893 8700891 Nfkbia NFKB inhibitor alpha gene DOID:8567 Hodgkin's lymphoma ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:deletion:C-terminally truncated protein PMID:10556199|REF_RGD_ID:2298894 8700891 Nfkbia NFKB inhibitor alpha gene DOID:865 vasculitis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8700891 Nfkbia NFKB inhibitor alpha gene DOID:8893 psoriasis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:21134362|REF_RGD_ID:10413867 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000099 Experimental Colitis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:21642017|REF_RGD_ID:10413866 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000310 Lung Injury ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:19321049|REF_RGD_ID:10413876 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000873 Adenoviridae Infections ameliorates ISO RGD:735440 D RGD:9068941 20210521 RGD human gene in a mouse model, associated with Animal Viral Hepatitis PMID:10692445|REF_RGD_ID:126925948 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:20199666|REF_RGD_ID:10413863 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:735440 D RGD:9068941 20200609 RGD associated with prostate cancer;protein:increased serine phosphorylation PMID:23093296|REF_RGD_ID:13506767 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735440 D RGD:9068941 20210618 RGD DNA:SNP: :(rs1050851) (human) PMID:29407193|REF_RGD_ID:127285391 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:SNPs:enhancers: (rs3138053, rs2233406) (human) PMID:17463416|REF_RGD_ID:127285388 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3171 D RGD:9068941 20210618 RGD PMID:11557243|REF_RGD_ID:127285020 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9002676 Cerebral Hemorrhage ISO RGD:3171 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:20150961|REF_RGD_ID:10413872 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:3171 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20231522|REF_RGD_ID:10413875 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9004283 Transplant Rejection treatment ISO RGD:10975 D RGD:9068941 20200609 RGD PMID:19399405|REF_RGD_ID:10413870 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9004283 Transplant Rejection treatment ISO RGD:3171 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9004484 Sepsis treatment ISO RGD:3171 D RGD:9068941 20210604 RGD PMID:14662889|REF_RGD_ID:126928138 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9004702 Pregnancy Complications susceptibility ISO RGD:735440 D RGD:9068941 20201218 RGD associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human) PMID:25792174|REF_RGD_ID:11342310 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735440 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3171 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:22483164|REF_RGD_ID:10413864 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:20188823|REF_RGD_ID:10413873 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9005930 Endotoxemia exacerbates ISO RGD:10975 D RGD:9068941 20210514 RGD PMID:19098124|REF_RGD_ID:126908017 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9005930 Endotoxemia treatment ISO RGD:10975 D RGD:9068941 20210604 RGD PMID:10229101|REF_RGD_ID:126928139 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:735440 D RGD:9068941 20201211 RGD associated with end stage renal disease;DNA:SNP:promoter: -94ins/delATTG (human) PMID:30431214|REF_RGD_ID:40902821 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:10975 D RGD:9068941 20210625 RGD protein:decreased expression:lymph node (mouse) PMID:10429205|REF_RGD_ID:127285021 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735440 D RGD:9068941 20210625 RGD associated with respiratory syncytial virus infectious disease;DNA:SNP:promoter: (rs2233406) (human) PMID:23487427|REF_RGD_ID:40902982 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:735440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:3171 D RGD:9068941 20230824 RGD PMID:22079846|REF_RGD_ID:401794136 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:19304943|REF_RGD_ID:10413871 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:735440 D RGD:9068941 20210625 RGD DNA:enhancers: :(rs2233406, rs2233409) (human) PMID:29093318|REF_RGD_ID:127285389 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9008824 Sarcopenia ISO RGD:3171 D RGD:9068941 20200609 RGD protein:increased expression:soleus PMID:15665035|REF_RGD_ID:10413861 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:735440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9538 multiple myeloma ISO RGD:735440 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12377412|PMID:16540234|REF_RGD_ID:2298895|REF_RGD_ID:2298898 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9588 encephalitis ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9675 pulmonary emphysema treatment ISO RGD:3171 D RGD:9068941 20200609 RGD PMID:20472710|REF_RGD_ID:4891488 8700891 Nfkbia NFKB inhibitor alpha gene DOID:9965 toxoplasmosis exacerbates ISO RGD:735440 D RGD:9068941 20210528 RGD human gene in a mouse model PMID:12626571|REF_RGD_ID:126925984 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:1059 intellectual disability ISO RGD:1604643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:2746 glycogen storage disease V ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:3070 high grade glioma ISO RGD:1604643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:630 genetic disease ISO RGD:1604643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604643 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8700923 Kcnk7 potassium two pore domain channel subfamily K member 7 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8700930 Myh4 myosin heavy chain 4 gene DOID:0080719 congenital myopathy 6 ISO RGD:1323747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 8700930 Myh4 myosin heavy chain 4 gene DOID:11446 sciatic neuropathy treatment ISO RGD:3139 D RGD:9068941 20220915 RGD PMID:14973145|REF_RGD_ID:9686059 8700930 Myh4 myosin heavy chain 4 gene DOID:630 genetic disease ISO RGD:1323747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8700930 Myh4 myosin heavy chain 4 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3139 D RGD:9068941 20220915 RGD associated with Heart Failure;protein:decreased expression:diaphragm PMID:25060722|REF_RGD_ID:9686065 8700998 Tex44 testis expressed 44 gene DOID:0060476 Perlman syndrome ISO RGD:1606945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8700998 Tex44 testis expressed 44 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1606945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:736395 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (human) PMID:26138391|REF_RGD_ID:11046268 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:736395 D RGD:9068941 20200609 RGD PMID:22608605|REF_RGD_ID:11046272 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:0111962 combined immunodeficiency ISO RGD:736395 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:27965109|PMID:28368018|PMID:28492532|PMID:29127144|PMID:32499645 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:0112004 immunodeficiency 71 ISO RGD:736395 D RGD:7240710 20190315 OMIM 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:0112004 immunodeficiency 71 ISO RGD:736395 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease PMID:17576681|PMID:25741868|PMID:27965109|PMID:28368018|PMID:28492532|PMID:29127144|PMID:30254128|PMID:32499645|PMID:33679784|PMID:9536098 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:10534 stomach cancer ISO RGD:736395 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastric epithelium (human) PMID:15279900|REF_RGD_ID:11046270 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:2213 hemorrhagic disease ISO RGD:736395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:4029 gastritis ISO RGD:736395 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: (human) PMID:23292007|REF_RGD_ID:11046273 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:5419 schizophrenia ISO RGD:736395 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:15098003|REF_RGD_ID:11571619 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:612 primary immunodeficiency disease ISO RGD:736395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:630 genetic disease ISO RGD:736395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8701002 Arpc1b actin related protein 2/3 complex subunit 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:0111436 optic atrophy 11 ISO RGD:733459 D RGD:7240710 20190315 OMIM 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:0111436 optic atrophy 11 ISO RGD:733459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Optic atrophy 11 PMID:25741868|PMID:27495975|PMID:28492532 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:10907 microcephaly ISO RGD:733459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:12930 dilated cardiomyopathy ISO RGD:733460 D RGD:9068941 20220825 MouseDO 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:2843 long QT syndrome ISO RGD:733459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8701022 Yme1l1 YME1 like 1 ATPase gene DOID:630 genetic disease ISO RGD:733459 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8701041 Ntf3 neurotrophin 3 gene DOID:0050989 episodic ataxia type 1 ISO RGD:732368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8701041 Ntf3 neurotrophin 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8701041 Ntf3 neurotrophin 3 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:732369 D RGD:9068941 20220825 MouseDO OMIM:108800 8701041 Ntf3 neurotrophin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:732368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8701041 Ntf3 neurotrophin 3 gene DOID:10652 Alzheimer's disease ISO RGD:732368 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G63E (human) PMID:9502217|REF_RGD_ID:1358754 8701041 Ntf3 neurotrophin 3 gene DOID:10908 hydrocephalus ISO RGD:732368 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:11580868|REF_RGD_ID:1358755 8701041 Ntf3 neurotrophin 3 gene DOID:12849 autistic disorder ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 8701041 Ntf3 neurotrophin 3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732368 D RGD:9068941 20200609 RGD PMID:16315781|REF_RGD_ID:4891110 8701041 Ntf3 neurotrophin 3 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:732368 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21059230|REF_RGD_ID:5144061 8701041 Ntf3 neurotrophin 3 gene DOID:14250 Down syndrome ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 8701041 Ntf3 neurotrophin 3 gene DOID:1574 alcohol use disorder ISO RGD:619728 D RGD:9068941 20231221 RGD mRNA,protein:decreased expression:hippocampus, plasma (rat) PMID:30277635|REF_RGD_ID:401938665 8701041 Ntf3 neurotrophin 3 gene DOID:1574 alcohol use disorder ISO RGD:619728 D RGD:9068941 20240215 RGD protein:increased expression:brain PMID:15307153|REF_RGD_ID:401965482 8701041 Ntf3 neurotrophin 3 gene DOID:1574 alcohol use disorder ISO RGD:732368 D RGD:9068941 20231221 RGD protein:decreased expression:plasma (human) PMID:30277635|REF_RGD_ID:401938665 8701041 Ntf3 neurotrophin 3 gene DOID:1824 status epilepticus ISO RGD:619728 D RGD:9068941 20210205 RGD RNA:decreased expression: hippocampus PMID:22019057|REF_RGD_ID:41404707 8701041 Ntf3 neurotrophin 3 gene DOID:1824 status epilepticus ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431 8701041 Ntf3 neurotrophin 3 gene DOID:2841 asthma ISO RGD:732368 D RGD:9068941 20200609 RGD PMID:11737043|REF_RGD_ID:4891123 8701041 Ntf3 neurotrophin 3 gene DOID:2841 asthma ISO RGD:732369 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:17497413|REF_RGD_ID:4891068 8701041 Ntf3 neurotrophin 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732368 D RGD:9068941 20200609 RGD mRNA:decreased expression:bronchus PMID:15843147|REF_RGD_ID:4891120 8701041 Ntf3 neurotrophin 3 gene DOID:5154 borna disease ISO RGD:619728 D RGD:9068941 20240222 RGD mRNA:decreased expression:hippocampus PMID:11175319|REF_RGD_ID:2325644 8701041 Ntf3 neurotrophin 3 gene DOID:5419 schizophrenia ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572319 8701041 Ntf3 neurotrophin 3 gene DOID:630 genetic disease ISO RGD:732368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701041 Ntf3 neurotrophin 3 gene DOID:6419 tetralogy of Fallot ISO RGD:732369 D RGD:9068941 20220825 MouseDO OMIM:187500 8701041 Ntf3 neurotrophin 3 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 8701041 Ntf3 neurotrophin 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:732368 D RGD:9068941 20200609 RGD PMID:16022868|REF_RGD_ID:4891112 8701041 Ntf3 neurotrophin 3 gene DOID:9002211 Hyperalgesia ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15659614 8701041 Ntf3 neurotrophin 3 gene DOID:9002955 Nerve Degeneration ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8921280|PMID:8978711 8701041 Ntf3 neurotrophin 3 gene DOID:9004354 Alcohol-Related Disorders ISO RGD:619728 D RGD:9068941 20240229 RGD protein:increased expression:hippocampus,cerebellar vermis PMID:18652597|REF_RGD_ID:401976540 8701041 Ntf3 neurotrophin 3 gene DOID:9004538 Hearing Loss ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18024279 8701041 Ntf3 neurotrophin 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8701041 Ntf3 neurotrophin 3 gene DOID:9743 diabetic neuropathy ISO RGD:732368 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11779407 8701050 Dhrsx dehydrogenase/reductase X-linked gene DOID:12849 autistic disorder ISO RGD:1344855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0050952 spastic ataxia ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1319491 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:21981780|PMID:22584950|PMID:23269600|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24361204|PMID:25558065|PMID:25592411|PMID:25741868|PMID:28492532|PMID:28641177|PMID:28832565|PMID:30088953|PMID:30392167|PMID:31087512|PMID:31518459|PMID:31804703|PMID:32552793|PMID:33607528|PMID:34284285 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110738 neurodegeneration with brain iron accumulation 4 ISO RGD:1319491 D RGD:7240710 20180130 OMIM 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110738 neurodegeneration with brain iron accumulation 4 ISO RGD:1319491 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4 PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22508347|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:25592411|PMID:25741868|PMID:26187298|PMID:26539891|PMID:27112773|PMID:28347615|PMID:28492532|PMID:28641177|PMID:29295770|PMID:29389947|PMID:29915382|PMID:30088953|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31518459|PMID:31804703|PMID:32581362|PMID:33607528|PMID:34272103|PMID:34284285|PMID:9536098 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110795 hereditary spastic paraplegia 43 ISO RGD:1319491 D RGD:7240710 20180130 OMIM 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110795 hereditary spastic paraplegia 43 ISO RGD:1319491 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive PMID:17576681|PMID:18414213|PMID:20039086|PMID:21981780|PMID:22584950|PMID:23166001|PMID:23269600|PMID:23278385|PMID:23436634|PMID:23494994|PMID:23857908|PMID:24033266|PMID:24209434|PMID:24361204|PMID:25558065|PMID:25592411|PMID:25741868|PMID:26187298|PMID:27112773|PMID:28347615|PMID:28492532|PMID:28641177|PMID:28832565|PMID:29915382|PMID:30088953|PMID:30369941|PMID:30392167|PMID:31087512|PMID:31105013|PMID:31804703|PMID:32552793|PMID:32581362|PMID:33607528|PMID:34284285|PMID:9536098 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:21981780|PMID:25741868|PMID:28492532 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:1289 neurodegenerative disease ISO RGD:1319491 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:21981780|PMID:24361204|PMID:25558065|PMID:28492532|PMID:28832565|PMID:31087512|PMID:32552793 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319491 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21981780|PMID:23269600|PMID:24361204|PMID:25558065|PMID:25741868|PMID:27112773|PMID:28492532|PMID:28832565|PMID:31087512|PMID:31105013|PMID:32552793 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:543 dystonia ISO RGD:1319491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:21981780|PMID:23269600|PMID:23494994|PMID:23857908|PMID:24033266|PMID:25592411|PMID:25741868|PMID:28492532|PMID:30088953 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:630 genetic disease ISO RGD:1319491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 8701061 LOC102011427 chromosome unknown open reading frame, human C19orf12 gene DOID:9008086 Developmental Disabilities ISO RGD:1319491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26539891 8701075 Ccdc92 coiled-coil domain containing 92 gene DOID:630 genetic disease ISO RGD:1604596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701075 Ccdc92 coiled-coil domain containing 92 gene DOID:9000528 Coronary Disease ISO RGD:1604596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8701075 Ccdc92 coiled-coil domain containing 92 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0060551 poikiloderma with neutropenia ISO RGD:1606230 D RGD:7240710 20190315 OMIM 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0060551 poikiloderma with neutropenia ISO RGD:1606230 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Poikiloderma with neutropenia PMID:11737690|PMID:16199547|PMID:18925663|PMID:20004881|PMID:20503306|PMID:20618321|PMID:20817924|PMID:21271650|PMID:21872685|PMID:21967010|PMID:23190533|PMID:25044170|PMID:25741868|PMID:27247962|PMID:27612988|PMID:28353165|PMID:28492532|PMID:29072891|PMID:29770900|PMID:29982244|PMID:32897901|PMID:34179048 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8701098 Usb1 U6 snRNA biogenesis phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1606230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8701106 Scimp SLP adaptor and CSK interacting membrane protein gene DOID:0080600 COVID-19 ISO RGD:1604451 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8701106 Scimp SLP adaptor and CSK interacting membrane protein gene DOID:11934 head and neck cancer ISO RGD:1604451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck cancer PMID:32266149 8701106 Scimp SLP adaptor and CSK interacting membrane protein gene DOID:630 genetic disease ISO RGD:1604451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:10211 cholelithiasis susceptibility ISO RGD:730964 D RGD:9068941 20200609 RGD PMID:11100118|REF_RGD_ID:1556516 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:10608 celiac disease ISO RGD:730963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:1184 nephrotic syndrome ISO RGD:628865 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11967026|REF_RGD_ID:730139 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:730964 D RGD:9068941 20200609 RGD PMID:17431188|REF_RGD_ID:1625282 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:730963 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.E41G, p.T734I, IVS4-57_-58ins48bp (human) PMID:16195894|REF_RGD_ID:1601112 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:730963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730963 D RGD:9068941 20200609 RGD PMID:16274362|REF_RGD_ID:1581190 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:783 end stage renal disease ISO RGD:628865 D RGD:9068941 20200609 RGD PMID:12217884|REF_RGD_ID:625687 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:730964 D RGD:9068941 20200609 RGD PMID:11100118|REF_RGD_ID:1556516 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628865 D RGD:9068941 20200609 RGD PMID:15242859|REF_RGD_ID:1581191 8701115 Soat2 sterol O-acyltransferase 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:730963 D RGD:9068941 20200609 RGD DNA:SNPs PMID:14557872|REF_RGD_ID:1581921 8701161 Hnmt histamine N-methyltransferase gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:733644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 8701161 Hnmt histamine N-methyltransferase gene DOID:0060500 drug allergy ISO RGD:733644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 8701161 Hnmt histamine N-methyltransferase gene DOID:0081214 autosomal recessive intellectual developmental disorder 51 ISO RGD:733644 D RGD:7240710 20240313 OMIM 8701161 Hnmt histamine N-methyltransferase gene DOID:0081214 autosomal recessive intellectual developmental disorder 51 ISO RGD:733644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51 PMID:25741868|PMID:26206890|PMID:28492532 8701161 Hnmt histamine N-methyltransferase gene DOID:11870 Pick's disease ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:11880199|REF_RGD_ID:5509779 8701161 Hnmt histamine N-methyltransferase gene DOID:12858 Huntington's disease ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:21106039|REF_RGD_ID:5509774 8701161 Hnmt histamine N-methyltransferase gene DOID:14250 Down syndrome ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:11880199|REF_RGD_ID:5509779 8701161 Hnmt histamine N-methyltransferase gene DOID:14330 Parkinson's disease ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:17985251|REF_RGD_ID:5509778 8701161 Hnmt histamine N-methyltransferase gene DOID:14330 Parkinson's disease no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:19773194|REF_RGD_ID:5509775 8701161 Hnmt histamine N-methyltransferase gene DOID:1555 urticaria ISO RGD:733644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 8701161 Hnmt histamine N-methyltransferase gene DOID:2841 asthma ISO RGD:733644 D RGD:7240710 20240313 OMIM 8701161 Hnmt histamine N-methyltransferase gene DOID:2841 asthma ISO RGD:733644 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:10752634|PMID:10803682|PMID:16205835|PMID:25741868 8701161 Hnmt histamine N-methyltransferase gene DOID:2841 asthma no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:15693910|PMID:16205835|PMID:17651147|REF_RGD_ID:5128885|REF_RGD_ID:5128887|REF_RGD_ID:5128888 8701161 Hnmt histamine N-methyltransferase gene DOID:3310 atopic dermatitis ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:19025430|REF_RGD_ID:5128889 8701161 Hnmt histamine N-methyltransferase gene DOID:3454 brain infarction severity ISO RGD:71049 D RGD:9068941 20200609 RGD PMID:16330002|PMID:21131122|REF_RGD_ID:5509772|REF_RGD_ID:5509773 8701161 Hnmt histamine N-methyltransferase gene DOID:4483 rhinitis ISO RGD:733644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17651147 8701161 Hnmt histamine N-methyltransferase gene DOID:4483 rhinitis no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:17651147|REF_RGD_ID:5128885 8701161 Hnmt histamine N-methyltransferase gene DOID:4990 essential tremor ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:18543121|REF_RGD_ID:5509776 8701161 Hnmt histamine N-methyltransferase gene DOID:4990 essential tremor no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:19773194|REF_RGD_ID:5509775 8701161 Hnmt histamine N-methyltransferase gene DOID:5419 schizophrenia no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:10898922|REF_RGD_ID:5509780 8701161 Hnmt histamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:733644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701161 Hnmt histamine N-methyltransferase gene DOID:8577 ulcerative colitis ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:18340362|REF_RGD_ID:5509777 8701161 Hnmt histamine N-methyltransferase gene DOID:9000772 Bronchial Hyperreactivity no_association ISO RGD:733644 D RGD:9068941 20200609 RGD PMID:15693910|REF_RGD_ID:5128888 8701178 Lrrn4cl LRRN4 C-terminal like gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1603349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 8701178 Lrrn4cl LRRN4 C-terminal like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8701178 Lrrn4cl LRRN4 C-terminal like gene DOID:1059 intellectual disability ISO RGD:1603349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8701178 Lrrn4cl LRRN4 C-terminal like gene DOID:630 genetic disease ISO RGD:1603349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1315512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25087610 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1315512 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315512 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:12849 autistic disorder ISO RGD:1315512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8701184 Tom1l2 target of myb1 like 2 membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1315512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701212 Tmem200c transmembrane protein 200C gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:3302319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8701212 Tmem200c transmembrane protein 200C gene DOID:1059 intellectual disability ISO RGD:3302319 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8701229 Capn7 calpain 7 gene DOID:0060417 3p deletion syndrome ISO RGD:1312532 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8701229 Capn7 calpain 7 gene DOID:630 genetic disease ISO RGD:1312532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701261 Septin11 septin 11 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1349067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:25741868|PMID:31673878 8701261 Septin11 septin 11 gene DOID:14749 methylmalonic acidemia ISO RGD:1349067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 8701261 Septin11 septin 11 gene DOID:630 genetic disease ISO RGD:1349067 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701279 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1318878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 8701279 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:1062 Fanconi syndrome ISO RGD:1318878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8701279 Sec62 SEC62 homolog, preprotein translocation factor gene DOID:630 genetic disease ISO RGD:1318878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701332 Csdc2 cold shock domain containing C2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1603657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8701332 Csdc2 cold shock domain containing C2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1603657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8701332 Csdc2 cold shock domain containing C2 gene DOID:630 genetic disease ISO RGD:1603657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701340 Tspan5 tetraspanin 5 gene DOID:10283 prostate cancer ISO RGD:1602132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8701340 Tspan5 tetraspanin 5 gene DOID:630 genetic disease ISO RGD:1602132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701357 Chrac1 chromatin accessibility complex subunit 1 gene DOID:630 genetic disease ISO RGD:1319606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:0060041 autism spectrum disorder ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:12849 autistic disorder ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:1928 Williams-Beuren syndrome ISO RGD:1349183 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:5419 schizophrenia ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1349183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:8445 intestinal volvulus ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8701367 Vps37d VPS37D subunit of ESCRT-I gene DOID:9008419 Volvulus Of Midgut ISO RGD:1349183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1343867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:5419 schizophrenia ISO RGD:1343867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8701375 Tasor2 transcription activation suppressor family member 2 gene DOID:630 genetic disease ISO RGD:1343867 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701410 Trappc5 trafficking protein particle complex subunit 5 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8701410 Trappc5 trafficking protein particle complex subunit 5 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1344244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8701410 Trappc5 trafficking protein particle complex subunit 5 gene DOID:630 genetic disease ISO RGD:1344244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701428 Tex12 testis expressed 12 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1351277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:19830588|PMID:20059486|PMID:25741868|PMID:28492532|PMID:31332730|PMID:32651154|PMID:33234470|PMID:33822819|PMID:7563095 8701428 Tex12 testis expressed 12 gene DOID:1059 intellectual disability ISO RGD:1351277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8701428 Tex12 testis expressed 12 gene DOID:630 genetic disease ISO RGD:1351277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701428 Tex12 testis expressed 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8701428 Tex12 testis expressed 12 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1351277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:19409519|PMID:25741868|PMID:28492532 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0080600 COVID-19 ISO RGD:1321127 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1321127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1321127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:12354473 D RGD:9068941 20210604 OMIA Retinal atrophy - Cone-rod dystrophy 3 PMID:20691256|PMID:20806078|PMID:22065099 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0111020 cone-rod dystrophy 9 ISO RGD:1321127 D RGD:7240710 20180130 OMIM 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:0111020 cone-rod dystrophy 9 ISO RGD:1321127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 9 PMID:11581183|PMID:17576681|PMID:19409519|PMID:25091951|PMID:25741868|PMID:28492532|PMID:9536098 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:10584 retinitis pigmentosa ISO RGD:1321127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:26261414|PMID:28492532|PMID:31456290 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:10652 Alzheimer's disease ISO RGD:621473 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:24792732|REF_RGD_ID:13703037 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:1793 pancreatic cancer ISO RGD:1321127 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas, epithelial cell PMID:17465204|REF_RGD_ID:2325247 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:1824 status epilepticus ISO RGD:621473 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:15950787|REF_RGD_ID:1559151 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1321127 D RGD:9068941 20231019 RGD protein:increased expression:pulmonary artery PMID:36522710|REF_RGD_ID:401850545 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1321127 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:14997207|REF_RGD_ID:2325249 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:607 paraplegia ISO RGD:1321127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:630 genetic disease ISO RGD:1321127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1321127 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19473694|REF_RGD_ID:2325246 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17018608 8701449 Adam9 ADAM metallopeptidase domain 9 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1321127 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19473694|REF_RGD_ID:2325246 8701483 Neo1 neogenin 1 gene DOID:0080600 COVID-19 ISO RGD:733424 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8701483 Neo1 neogenin 1 gene DOID:0110225 Brugada syndrome 8 ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 8701483 Neo1 neogenin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8701483 Neo1 neogenin 1 gene DOID:2717 Bloom syndrome ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8701483 Neo1 neogenin 1 gene DOID:3320 Tay-Sachs disease ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8701483 Neo1 neogenin 1 gene DOID:5419 schizophrenia ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8701483 Neo1 neogenin 1 gene DOID:630 genetic disease ISO RGD:733424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701483 Neo1 neogenin 1 gene DOID:9002560 Penetrating Eye Injuries ISO RGD:619837 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21887516|REF_RGD_ID:9850142 8701483 Neo1 neogenin 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:619837 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21887516|REF_RGD_ID:9850142 8701483 Neo1 neogenin 1 gene DOID:9256 colorectal cancer ISO RGD:733424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8701517 LOC102030009 cytochrome c oxidase subunit 7B2, mitochondrial gene DOID:630 genetic disease ISO RGD:1353874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701517 LOC102030009 cytochrome c oxidase subunit 7B2, mitochondrial gene DOID:684 hepatocellular carcinoma ISO RGD:1353874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1320101 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:25741868|PMID:28492532|PMID:36909829 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0050683 Bothnia retinal dystrophy ISO RGD:1320101 D RGD:7240710 20180130 OMIM 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0050683 Bothnia retinal dystrophy ISO RGD:1320101 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY PMID:10102298|PMID:10102299|PMID:11449319|PMID:12536144|PMID:15234312|PMID:15953459|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28492532|PMID:31456290|PMID:32188692 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1320101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:21447491|PMID:2392416|PMID:25429852|PMID:28492532 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0111015 Newfoundland cone-rod dystrophy ISO RGD:1320101 D RGD:7240710 20180130 OMIM 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0111015 Newfoundland cone-rod dystrophy ISO RGD:1320101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11868161|PMID:15953459|PMID:16199547|PMID:17576681|PMID:21447491|PMID:22171637|PMID:2392416|PMID:23929416|PMID:24265693|PMID:25356976|PMID:25429852|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31872526|PMID:32188692|PMID:34410188|PMID:34795310|PMID:9536098 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1320101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320101 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:12536144|PMID:14718298|PMID:15953459|PMID:17065479|PMID:18344446|PMID:19339744|PMID:19846785|PMID:20238024|PMID:22164218|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:23929416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:32188692|PMID:33188265|PMID:33851411|PMID:34410188|PMID:34795310|PMID:36247817|PMID:9326942 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:7240710 20180130 OMIM 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10102298|PMID:10102299|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:15234312|PMID:15953459|PMID:18344446|PMID:19846785|PMID:20238024|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:25307992|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:33188265|PMID:9326942 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:11105 fundus albipunctatus ISO RGD:1320101 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10102298|PMID:10102299|PMID:11301032|PMID:11449319|PMID:11453974|PMID:11868161|PMID:12536144|PMID:14718298|PMID:15234312|PMID:15953459|PMID:17576681|PMID:18344446|PMID:19846785|PMID:20238024|PMID:21447491|PMID:22171637|PMID:22183382|PMID:22551409|PMID:22559933|PMID:23105016|PMID:2392416|PMID:24265693|PMID:25307992|PMID:25326637|PMID:25356976|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:31456290|PMID:31872526|PMID:32188692|PMID:33188265|PMID:33851411|PMID:34795310|PMID:9326942|PMID:9536098 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:4448 macular degeneration ISO RGD:1320101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:630 genetic disease ISO RGD:1320101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:8499 night blindness ISO RGD:1320101 D RGD:9068941 20200609 RGD Fundus albipunctatus, OMIM:180090 PMID:11453974|REF_RGD_ID:1599620 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1320101 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10102299|PMID:11301032|PMID:12536144|PMID:18344446|PMID:21447491|PMID:22551409|PMID:2392416|PMID:23929416|PMID:25326637|PMID:25429852|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:32188692|PMID:33851411 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1320101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1320101 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692 8701528 Rlbp1 retinaldehyde binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1320101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8701550 St7l suppression of tumorigenicity 7 like gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1342887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8701550 St7l suppression of tumorigenicity 7 like gene DOID:630 genetic disease ISO RGD:1342887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701572 Mydgf myeloid derived growth factor gene DOID:0080600 COVID-19 ISO RGD:1345552 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8701572 Mydgf myeloid derived growth factor gene DOID:630 genetic disease ISO RGD:1345552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701572 Mydgf myeloid derived growth factor gene DOID:9000058 Keloid ISO RGD:1345552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8701593 Itga2b integrin subunit alpha 2b gene DOID:0060573 von Willebrand's disease 1 severity ISO RGD:1349627 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:15226188|REF_RGD_ID:10766468 8701593 Itga2b integrin subunit alpha 2b gene DOID:0060574 von Willebrand's disease 2 no_association ISO RGD:1349627 D RGD:9068941 20200609 RGD DNA:haplotype:: PMID:16409463|REF_RGD_ID:10766469 8701593 Itga2b integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:7240710 20180130 OMIM 8701593 Itga2b integrin subunit alpha 2b gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1349627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 PMID:10607701|PMID:14687991|PMID:15099289|PMID:1638023|PMID:16722529|PMID:18065693|PMID:19691478|PMID:19805198|PMID:20020534|PMID:20081061|PMID:21454453|PMID:21917754|PMID:22102273|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:28492532|PMID:29090484|PMID:31064749|PMID:31119735|PMID:32139434|PMID:32237906|PMID:32581362|PMID:33276370|PMID:34355501|PMID:9215749|PMID:9834222 8701593 Itga2b integrin subunit alpha 2b gene DOID:1588 thrombocytopenia ISO RGD:1349627 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:1638023|PMID:18065693|PMID:19805198|PMID:20081061|PMID:21454453|PMID:22102273|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:28492532|PMID:29090484|PMID:31064749|PMID:31119735|PMID:32581362|PMID:33276370|PMID:9215749|PMID:9834222 8701593 Itga2b integrin subunit alpha 2b gene DOID:2213 hemorrhagic disease ISO RGD:1349627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8701593 Itga2b integrin subunit alpha 2b gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1349627 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A PMID:10607701|PMID:11091187|PMID:11798398|PMID:12008952|PMID:12083483|PMID:12181054|PMID:12424194|PMID:12487785|PMID:12506038|PMID:1317725|PMID:14687991|PMID:15099289|PMID:15717695|PMID:15748238|PMID:15886807|PMID:16199547|PMID:16359514|PMID:1638023|PMID:16463284|PMID:16722529|PMID:17488698|PMID:17576681|PMID:18065693|PMID:18422845|PMID:18791937|PMID:18976939|PMID:19172520|PMID:19175981|PMID:1926040|PMID:19339519|PMID:19691478|PMID:19734576|PMID:19805198|PMID:20020534|PMID:20081061|PMID:2014236|PMID:20492470|PMID:20819594|PMID:21029361|PMID:21113249|PMID:21454453|PMID:21487445|PMID:21557682|PMID:21917754|PMID:22102273|PMID:22190468|PMID:22250950|PMID:22513797|PMID:22738334|PMID:23305224|PMID:24418945|PMID:25326637|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25827233|PMID:25944497|PMID:26096001|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28888044|PMID:28983057|PMID:29090484|PMID:29385657|PMID:29675921|PMID:29884513|PMID:30138987|PMID:30792900|PMID:31064749|PMID:31119735|PMID:32089034|PMID:32139434|PMID:32237906|PMID:32581362|PMID:33276370|PMID:33928629|PMID:34355501|PMID:7508443|PMID:7620188|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9734640|PMID:9763559|PMID:9834222|PMID:9920835 8701593 Itga2b integrin subunit alpha 2b gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1349627 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8701593 Itga2b integrin subunit alpha 2b gene DOID:3410 carotid artery thrombosis ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1605806 8701593 Itga2b integrin subunit alpha 2b gene DOID:630 genetic disease ISO RGD:1349627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8701593 Itga2b integrin subunit alpha 2b gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8701593 Itga2b integrin subunit alpha 2b gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8701593 Itga2b integrin subunit alpha 2b gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1349627 D RGD:7240710 20220427 OMIM 8701593 Itga2b integrin subunit alpha 2b gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1349627 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 PMID:10607701|PMID:11798398|PMID:12008952|PMID:12083483|PMID:12181054|PMID:12424194|PMID:1317725|PMID:15099289|PMID:16199547|PMID:16359514|PMID:16722529|PMID:17576681|PMID:1926040|PMID:19691478|PMID:20020534|PMID:2014236|PMID:21113249|PMID:21454453|PMID:21487445|PMID:21557682|PMID:21917754|PMID:22190468|PMID:22513797|PMID:24418945|PMID:25326637|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28983057|PMID:29090484|PMID:29385657|PMID:29675921|PMID:30138987|PMID:31064749|PMID:31119735|PMID:32089034|PMID:32139434|PMID:32237906|PMID:32581362|PMID:34355501|PMID:7508443|PMID:7620188|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9734640|PMID:9763559|PMID:9920835 8701593 Itga2b integrin subunit alpha 2b gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 8701593 Itga2b integrin subunit alpha 2b gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1349627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN PMID:2014236|PMID:25741868|PMID:28492532 8701593 Itga2b integrin subunit alpha 2b gene DOID:9004009 Reperfusion Injury ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:11705748|REF_RGD_ID:2316361 8701593 Itga2b integrin subunit alpha 2b gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1557725 D RGD:9068941 20200609 RGD PMID:11493456|REF_RGD_ID:2316362 8701593 Itga2b integrin subunit alpha 2b gene DOID:9005930 Endotoxemia ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:15280099|REF_RGD_ID:2316360 8701593 Itga2b integrin subunit alpha 2b gene DOID:9007096 Stroke ISO RGD:1349627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 8701593 Itga2b integrin subunit alpha 2b gene DOID:9007096 Stroke ISO RGD:1596428 D RGD:9068941 20200609 RGD PMID:15678115|REF_RGD_ID:2316358 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1604899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:1604899 D RGD:7240710 20180130 OMIM 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:1604899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:10441329|PMID:16283883|PMID:20080937|PMID:22213132|PMID:25741868|PMID:28122681|PMID:28492532|PMID:30676690 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:10316 pneumoconiosis ISO RGD:1604899 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1604899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1604899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1604899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28649519 8701629 Alg11 ALG11 alpha-1,2-mannosyltransferase gene DOID:893 Wilson disease ISO RGD:1604899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:16283883|PMID:25741868|PMID:28492532|PMID:30655162|PMID:30676690 8701648 Rfc3 replication factor C subunit 3 gene DOID:630 genetic disease ISO RGD:1315670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27441201|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1344342 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1344342 D RGD:7240710 20180130 OMIM 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0070068 autosomal dominant intellectual developmental disorder 38 ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 38 PMID:18414213|PMID:23033978|PMID:23647072|PMID:24697219|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26682508|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28135719|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:3066688|PMID:32160274|PMID:32196822|PMID:32429945|PMID:33004838 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344342 D RGD:7240710 20180130 OMIM 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:17576681|PMID:18414213|PMID:19822871|PMID:20805988|PMID:23033978|PMID:23166088|PMID:23360469|PMID:23647072|PMID:23692823|PMID:24697219|PMID:24811917|PMID:25326326|PMID:25326635|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26633542|PMID:26682508|PMID:26740508|PMID:26758118|PMID:26795593|PMID:27441201|PMID:27652284|PMID:27779742|PMID:28135719|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:30109124|PMID:3066688|PMID:30866059|PMID:32160274|PMID:32196822|PMID:32429945|PMID:33004838|PMID:9536098 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344342 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1344342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 PMID:25741868|PMID:28492532 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1059 intellectual disability ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:23033978|PMID:23647072|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:33004838 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:10652 Alzheimer's disease ISO RGD:1344342 D RGD:9068941 20200609 RGD protein:increased expression:CA1field of hippocampus: PMID:8750861|REF_RGD_ID:10401216 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:12849 autistic disorder ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1826 epilepsy ISO RGD:1344342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:1826 epilepsy ISO RGD:1344342 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:2394 ovarian cancer ISO RGD:1344342 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:ovary PMID:12053177|REF_RGD_ID:2303420 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:630 genetic disease ISO RGD:1344342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:23647072|PMID:24697219|PMID:25326326|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26682508|PMID:26795593|PMID:27441201|PMID:27652284|PMID:28378778|PMID:28492532|PMID:28628100|PMID:28911200|PMID:30109124|PMID:3066688|PMID:32196822|PMID:32429945|PMID:7491491|PMID:9253415 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9002955 Nerve Degeneration ISO RGD:3781 D RGD:9068941 20200609 RGD protein:increased expression:CA1&CA3 fields of hippocampus: PMID:8750861|REF_RGD_ID:10401216 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344342 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9008582 Developmental Disease ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8701675 Eef1a2 eukaryotic translation elongation factor 1 alpha 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1344342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:0111041 glycogen storage disease IXB ISO RGD:735534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 8701687 Itfg1 integrin alpha FG-GAP repeat containing 1 gene DOID:630 genetic disease ISO RGD:735534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701722 Chchd1 coiled-coil-helix-coiled-coil-helix domain containing 1 gene DOID:630 genetic disease ISO RGD:1316148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701729 Cep19 centrosomal protein 19 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8701729 Cep19 centrosomal protein 19 gene DOID:12849 autistic disorder ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8701729 Cep19 centrosomal protein 19 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 8701729 Cep19 centrosomal protein 19 gene DOID:5419 schizophrenia ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8701729 Cep19 centrosomal protein 19 gene DOID:630 genetic disease ISO RGD:1602846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8701729 Cep19 centrosomal protein 19 gene DOID:9004698 Morbid Obesity and Spermatogenic Failure ISO RGD:1602846 D RGD:7240710 20180130 OMIM 8701729 Cep19 centrosomal protein 19 gene DOID:9004698 Morbid Obesity and Spermatogenic Failure ISO RGD:1602846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morbid obesity and spermatogenic failure PMID:24268657|PMID:25741868|PMID:28492532 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1345721 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:1227 neutropenia ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:574 peripheral nervous system disease ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1345721 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:870 neuropathy ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9002720 Splenomegaly ISO RGD:1345721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Enlarged Spleen 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9008352 Dystonia 30 ISO RGD:1345721 D RGD:7240710 20210505 OMIM 8701808 Vps16 VPS16 core subunit of CORVET and HOPS complexes gene DOID:9008352 Dystonia 30 ISO RGD:1345721 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-associated disorder PMID:25741868|PMID:27174565|PMID:32808683 8701837 Cpn1 carboxypeptidase N subunit 1 gene DOID:0111583 carboxypeptidase N deficiency ISO RGD:734334 D RGD:7240710 20180130 OMIM 8701837 Cpn1 carboxypeptidase N subunit 1 gene DOID:0111583 carboxypeptidase N deficiency ISO RGD:734334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anaphylotoxin inactivator deficiency PMID:12560874|PMID:24033266|PMID:7437116 8701837 Cpn1 carboxypeptidase N subunit 1 gene DOID:630 genetic disease ISO RGD:734334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8701851 Osbpl3 oxysterol binding protein like 3 gene DOID:630 genetic disease ISO RGD:1350234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701912 Il4i1 interleukin 4 induced 1 gene DOID:630 genetic disease ISO RGD:1312498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8701912 Il4i1 interleukin 4 induced 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1312498 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36537648 8701912 Il4i1 interleukin 4 induced 1 gene DOID:9005372 Inflammation ISO RGD:1312498 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36537648 8701912 Il4i1 interleukin 4 induced 1 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1312498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis PMID:16786527|PMID:25741868|PMID:28492532 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:1210 optic neuritis ISO RGD:730839 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental;protein:altered expression:optic II nerve PMID:20151287|REF_RGD_ID:5686855 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:12849 autistic disorder ISO RGD:730839 D RGD:9068941 20200609 RGD protein:increased expression:cingulate cortex PMID:21575186|REF_RGD_ID:5686862 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:1826 epilepsy ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:2316 brain ischemia ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:21864831|REF_RGD_ID:5686850 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:730838 D RGD:9068941 20200609 RGD PMID:10976643|REF_RGD_ID:5686865 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:2717 Bloom syndrome ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:3213 demyelinating disease ISO RGD:730839 D RGD:9068941 20200609 RGD PMID:22078261|REF_RGD_ID:5686845 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:3613 Canavan disease ISO RGD:733059 D RGD:9068941 20200609 RGD PMID:19739253|REF_RGD_ID:5686858 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:5419 schizophrenia ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:630 genetic disease ISO RGD:730838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:684 hepatocellular carcinoma ISO RGD:730838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:22042562|REF_RGD_ID:5686848 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730838 D RGD:9068941 20200609 RGD PMID:19604403|REF_RGD_ID:5686859 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730839 D RGD:9068941 20200609 RGD PMID:22243800|REF_RGD_ID:5686844 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9000998 Brain Injuries ISO RGD:619942 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex PMID:19473238|REF_RGD_ID:5686860 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619942 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:20162860|REF_RGD_ID:5686863 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:730839 D RGD:9068941 20200609 RGD PMID:21679768|REF_RGD_ID:5686852 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9004009 Reperfusion Injury ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:17565360|REF_RGD_ID:5686869 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9007096 Stroke ISO RGD:619942 D RGD:9068941 20200609 RGD PMID:21951366|REF_RGD_ID:5686849 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9256 colorectal cancer ISO RGD:730838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8701935 Cspg4 chondroitin sulfate proteoglycan 4 gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:730838 D RGD:9068941 20200609 RGD PMID:8562939|REF_RGD_ID:734840 8701952 Klf12 KLF transcription factor 12 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8701952 Klf12 KLF transcription factor 12 gene DOID:303 substance-related disorder ISO RGD:1319416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8701952 Klf12 KLF transcription factor 12 gene DOID:5419 schizophrenia ISO RGD:1319416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8701952 Klf12 KLF transcription factor 12 gene DOID:630 genetic disease ISO RGD:1319416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701964 Cimap2 ciliary microtubule associated protein 2 gene DOID:630 genetic disease ISO RGD:1603553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701984 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1350359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8701984 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:1350359 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:12112657|PMID:19306334|PMID:25741868|PMID:28492532 8701984 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:630 genetic disease ISO RGD:1350359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701984 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1350359 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8701984 Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1350359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8701990 Ece1 endothelin converting enzyme 1 gene DOID:0050855 renal fibrosis ISO RGD:620293 D RGD:9068941 20200609 RGD associated with Ureteral obstruction;mRNA:increased expression:kidney PMID:11078391|REF_RGD_ID:7244179 8701990 Ece1 endothelin converting enzyme 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8701990 Ece1 endothelin converting enzyme 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:731823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8701990 Ece1 endothelin converting enzyme 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10652 Alzheimer's disease ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:15340356|REF_RGD_ID:1580902 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:12193123|REF_RGD_ID:1580907 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:kidney medulla PMID:10894793|REF_RGD_ID:7244182 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12566389 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10763 hypertension ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:15126915|REF_RGD_ID:1580904 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10825 essential hypertension ISO RGD:731823 D RGD:9068941 20240314 CTD CTD Direct Evidence: marker/mechanism 8701990 Ece1 endothelin converting enzyme 1 gene DOID:10825 essential hypertension susceptibility ISO RGD:731823 D RGD:7240710 20240313 OMIM 8701990 Ece1 endothelin converting enzyme 1 gene DOID:11465 autonomic nervous system disease ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9915973 8701990 Ece1 endothelin converting enzyme 1 gene DOID:1184 nephrotic syndrome ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:12972712|REF_RGD_ID:7244242 8701990 Ece1 endothelin converting enzyme 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:11145756|REF_RGD_ID:1580911 8701990 Ece1 endothelin converting enzyme 1 gene DOID:1682 congenital heart disease ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9449665|PMID:9915973 8701990 Ece1 endothelin converting enzyme 1 gene DOID:3021 acute kidney failure ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:10073607|PMID:11043448|REF_RGD_ID:7244180|REF_RGD_ID:7244185 8701990 Ece1 endothelin converting enzyme 1 gene DOID:3393 coronary artery disease ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:10973835|REF_RGD_ID:1580909 8701990 Ece1 endothelin converting enzyme 1 gene DOID:3393 coronary artery disease ISO RGD:731823 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell,macrophage PMID:8994440|REF_RGD_ID:7244168 8701990 Ece1 endothelin converting enzyme 1 gene DOID:3454 brain infarction ISO RGD:1552140 D RGD:9068941 20200609 RGD PMID:15485550|REF_RGD_ID:1580908 8701990 Ece1 endothelin converting enzyme 1 gene DOID:5844 myocardial infarction ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:9607404|REF_RGD_ID:1580912 8701990 Ece1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:620293 D RGD:9068941 20200609 RGD associated with myocardial ischemia PMID:19596829|REF_RGD_ID:7243876 8701990 Ece1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:9595392|REF_RGD_ID:7244244 8701990 Ece1 endothelin converting enzyme 1 gene DOID:6000 congestive heart failure ISO RGD:731823 D RGD:9068941 20200609 RGD PMID:11145756|REF_RGD_ID:1580911 8701990 Ece1 endothelin converting enzyme 1 gene DOID:630 genetic disease ISO RGD:731823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8701990 Ece1 endothelin converting enzyme 1 gene DOID:6406 double outlet right ventricle ISO RGD:1552140 D RGD:9068941 20220825 MouseDO OMIM:217095 8701990 Ece1 endothelin converting enzyme 1 gene DOID:6432 pulmonary hypertension ISO RGD:620293 D RGD:9068941 20200609 RGD associated with Anoxia; PMID:18767389|REF_RGD_ID:7243939 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620293 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16170464|REF_RGD_ID:7243952 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9001782 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction ISO RGD:731823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction PMID:25741868|PMID:34298581|PMID:8530372|PMID:9915973 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9001782 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction susceptibility ISO RGD:731823 D RGD:7240710 20240313 OMIM 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9002514 Neointima ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:8575076|REF_RGD_ID:7244170 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1552140 D RGD:9068941 20200609 RGD PMID:9649553|REF_RGD_ID:734910 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9004283 Transplant Rejection ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:10401760|REF_RGD_ID:7244165 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620293 D RGD:9068941 20200609 RGD associated with Hypertension, Renovascular and Diabetes Mellitus, Experimental;mRNA,protein:increased expression:heart left ventricle PMID:14627492|REF_RGD_ID:7244172 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA:increased expression:thoracic aorta PMID:23600389|REF_RGD_ID:7243858 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:620293 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney medulla PMID:18385664|REF_RGD_ID:7243946 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:731823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:12193087|PMID:18586023|REF_RGD_ID:4892580|REF_RGD_ID:7244160 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9449665 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:620293 D RGD:9068941 20200609 RGD PMID:19371338|REF_RGD_ID:4892572 8701990 Ece1 endothelin converting enzyme 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 8702021 Ankrd2 ankyrin repeat domain 2 gene DOID:630 genetic disease ISO RGD:1312939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:10283 prostate cancer ISO RGD:1605423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8702063 Bltp2 bridge-like lipid transfer protein family member 2 gene DOID:630 genetic disease ISO RGD:1605423 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1351399 D RGD:7240710 20180130 OMIM 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1351399 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 PMID:16199547|PMID:17576681|PMID:22492991|PMID:23033978|PMID:23934111|PMID:24476948|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26467025|PMID:26482601|PMID:27781031|PMID:28397838|PMID:28492532|PMID:28777499|PMID:28778787|PMID:28887793|PMID:28940310|PMID:31130284|PMID:32238909|PMID:32681751|PMID:33734437|PMID:35899201|PMID:9536098 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1059 intellectual disability ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:10907 microcephaly ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:12849 autistic disorder ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:1826 epilepsy ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:5419 schizophrenia ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:630 genetic disease ISO RGD:1351399 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:23934111|PMID:24476948|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26467025|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9001793 Generalized Epilepsy ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular hypotonia PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9005603 Muscle Hypotonia ISO RGD:1351399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23033978|PMID:23934111|PMID:24781210|PMID:24896178|PMID:25732998|PMID:25741868|PMID:26138355|PMID:26482601|PMID:28492532|PMID:28778787|PMID:28887793|PMID:28940310|PMID:32238909|PMID:32681751|PMID:33734437 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9007 sudden infant death syndrome ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 8702117 Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1351399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32681751 8702169 Ltb4r leukotriene B4 receptor gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8702169 Ltb4r leukotriene B4 receptor gene DOID:10754 otitis media IEP D RGD:11553910|PMID:20433028 20161017 RGD 8702169 Ltb4r leukotriene B4 receptor gene DOID:11664 nephrosclerosis ISO RGD:1550123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 8702169 Ltb4r leukotriene B4 receptor gene DOID:2349 arteriosclerosis ISO RGD:1550123 D RGD:9068941 20200609 RGD PMID:16043658|REF_RGD_ID:1581956 8702169 Ltb4r leukotriene B4 receptor gene DOID:3407 carotid artery disease ISO RGD:620410 D RGD:9068941 20200609 RGD PMID:16293697|REF_RGD_ID:1581954 8702169 Ltb4r leukotriene B4 receptor gene DOID:409 liver disease ISO RGD:1348020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8702169 Ltb4r leukotriene B4 receptor gene DOID:630 genetic disease ISO RGD:1348020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702169 Ltb4r leukotriene B4 receptor gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8702169 Ltb4r leukotriene B4 receptor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348020 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8702169 Ltb4r leukotriene B4 receptor gene DOID:9005372 Inflammation ISO RGD:1348020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10934231 8702169 Ltb4r leukotriene B4 receptor gene DOID:9007278 Anaphylaxis ISO RGD:1348020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10934231 8702169 Ltb4r leukotriene B4 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1550123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28487374 8702169 Ltb4r leukotriene B4 receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:1348020 D RGD:9068941 20210108 RGD PMID:18571838|REF_RGD_ID:40903061 8702184 Sftpc surfactant protein C gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736728 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:14735158|PMID:15039969|PMID:15516475|PMID:15709974|PMID:18383112|PMID:19443464|PMID:19910179|PMID:22308375|PMID:23025826|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:25782673|PMID:27362365|PMID:28492532 8702184 Sftpc surfactant protein C gene DOID:0050158 desquamative interstitial pneumonia ISO RGD:733829 D RGD:9068941 20220825 MouseDO OMIM:263000 8702184 Sftpc surfactant protein C gene DOID:0080000 muscular disease ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Skeletal muscle disease PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii 8702184 Sftpc surfactant protein C gene DOID:0110838 Usher syndrome type 2A ISO RGD:736728 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:11339 pneumocystosis ISO RGD:733829 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11385364|REF_RGD_ID:4143431 8702184 Sftpc surfactant protein C gene DOID:11394 adult respiratory distress syndrome ISO RGD:736728 D RGD:9068941 20200609 RGD PMID:9720777|REF_RGD_ID:4144159 8702184 Sftpc surfactant protein C gene DOID:11394 adult respiratory distress syndrome ISO RGD:736728 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:17662121|REF_RGD_ID:4143379 8702184 Sftpc surfactant protein C gene DOID:11612 polycystic ovary syndrome ISO RGD:736728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8702184 Sftpc surfactant protein C gene DOID:12053 cryptococcosis ISO RGD:733829 D RGD:9068941 20200827 RGD mRNA:increased expression:lung (mouse) PMID:27596810|REF_RGD_ID:38549345 8702184 Sftpc surfactant protein C gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:12347 osteogenesis imperfecta ISO RGD:736728 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive PMID:24033266|PMID:25741868|PMID:28492532 8702184 Sftpc surfactant protein C gene DOID:12716 newborn respiratory distress syndrome ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:19304906|REF_RGD_ID:4144065 8702184 Sftpc surfactant protein C gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :138A>C, 186A>G (human) PMID:17121584|REF_RGD_ID:4144116 8702184 Sftpc surfactant protein C gene DOID:1485 cystic fibrosis ISO RGD:736728 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15271694|REF_RGD_ID:4143403 8702184 Sftpc surfactant protein C gene DOID:2841 asthma ISO RGD:733829 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11472974|REF_RGD_ID:4143465 8702184 Sftpc surfactant protein C gene DOID:2841 asthma ISO RGD:736728 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16629790|REF_RGD_ID:4143462 8702184 Sftpc surfactant protein C gene DOID:2841 asthma susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A53T (human) PMID:19910179|REF_RGD_ID:4144063 8702184 Sftpc surfactant protein C gene DOID:3082 interstitial lung disease ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:3082 interstitial lung disease susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.N186S (human) PMID:16423270|REF_RGD_ID:4144126 8702184 Sftpc surfactant protein C gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :186A>G (human) PMID:18038590|REF_RGD_ID:4144115 8702184 Sftpc surfactant protein C gene DOID:3770 pulmonary fibrosis ISO RGD:736728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:15039969|PMID:15293602|PMID:15572558|PMID:15756222|PMID:17597647|PMID:19443464|PMID:21092132|PMID:21707890|PMID:22308375|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28492532|PMID:31081264 8702184 Sftpc surfactant protein C gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.M71V, p.I73T (human) PMID:20656946|REF_RGD_ID:4144060 8702184 Sftpc surfactant protein C gene DOID:3910 lung adenocarcinoma ISO RGD:736728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25851810 8702184 Sftpc surfactant protein C gene DOID:423 myopathy ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal myopathy PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:552 pneumonia ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:15967375|REF_RGD_ID:4143394 8702184 Sftpc surfactant protein C gene DOID:630 genetic disease ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22308375 8702184 Sftpc surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:pneumocyte PMID:8569184|REF_RGD_ID:4143451 8702184 Sftpc surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.I73T (human) PMID:16910460|REF_RGD_ID:4144117 8702184 Sftpc surfactant protein C gene DOID:850 lung disease ISO RGD:736728 D RGD:9068941 20200609 RGD surfactant metabolism dysfunction SMDP2,OMIM:610913;DNA:point mutation:intron:460+1G>A (human) PMID:11207353|REF_RGD_ID:1624153 8702184 Sftpc surfactant protein C gene DOID:850 lung disease ISO RGD:737198 D RGD:9068941 20200609 RGD Lung Injury PMID:11796659|REF_RGD_ID:4143420 8702184 Sftpc surfactant protein C gene DOID:874 bacterial pneumonia ISO RGD:3666 D RGD:9068941 20200609 RGD PMID:12169586|REF_RGD_ID:4143464 8702184 Sftpc surfactant protein C gene DOID:874 bacterial pneumonia ISO RGD:733829 D RGD:9068941 20200609 RGD PMID:18566429|REF_RGD_ID:4144114 8702184 Sftpc surfactant protein C gene DOID:9000613 Hyaline Membrane Disease ISO RGD:736728 D RGD:9068941 20200609 RGD PMID:9655740|REF_RGD_ID:4143444 8702184 Sftpc surfactant protein C gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:733829 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14748931|REF_RGD_ID:4143407 8702184 Sftpc surfactant protein C gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:736728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:9003953 Surfactant Dysfunction ISO RGD:736728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:11893657|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15516475|PMID:15557112|PMID:15572558|PMID:15709974|PMID:15756222|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20403820|PMID:20463293|PMID:20658481|PMID:21092132|PMID:21707890|PMID:22308375|PMID:22458263|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25657025|PMID:25741868|PMID:27362365|PMID:28157837|PMID:28492532|PMID:29805340|PMID:31081264 8702184 Sftpc surfactant protein C gene DOID:9004009 Reperfusion Injury ISO RGD:3666 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:20560845|REF_RGD_ID:4144062 8702184 Sftpc surfactant protein C gene DOID:9005603 Muscle Hypotonia ISO RGD:736728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 8702184 Sftpc surfactant protein C gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736728 D RGD:7240710 20180130 OMIM 8702184 Sftpc surfactant protein C gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736728 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 PMID:11207353|PMID:11893657|PMID:11991887|PMID:12538769|PMID:13817571|PMID:14735158|PMID:15039969|PMID:15293602|PMID:15516475|PMID:15572558|PMID:15647591|PMID:15709974|PMID:15756222|PMID:17597647|PMID:18383112|PMID:19443464|PMID:19910179|PMID:20118944|PMID:20403820|PMID:20658481|PMID:21092132|PMID:21707890|PMID:21828032|PMID:22308375|PMID:23025826|PMID:23166334|PMID:23775869|PMID:24033266|PMID:24081995|PMID:24347114|PMID:25105258|PMID:25657025|PMID:25741868|PMID:25782673|PMID:27362365|PMID:28492532|PMID:29554876|PMID:29569581|PMID:31081264|PMID:5942662 8702184 Sftpc surfactant protein C gene DOID:9007480 Hyperoxia ISO RGD:3666 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11472975|REF_RGD_ID:4143429 8702184 Sftpc surfactant protein C gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:736728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8702184 Sftpc surfactant protein C gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10751355 8702184 Sftpc surfactant protein C gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:736728 D RGD:9068941 20200609 RGD DNA:polymorphism: :138A>C, 186A>G (human) PMID:18038590|REF_RGD_ID:4144115 8702202 Cep112 centrosomal protein 112 gene DOID:0112109 spermatogenic failure 44 ISO RGD:1604510 D RGD:7240710 20201021 OMIM 8702202 Cep112 centrosomal protein 112 gene DOID:0112109 spermatogenic failure 44 ISO RGD:1604510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 44 PMID:31654588 8702202 Cep112 centrosomal protein 112 gene DOID:630 genetic disease ISO RGD:1604510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702257 Dda1 DET1 and DDB1 associated 1 gene DOID:630 genetic disease ISO RGD:1601973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702277 Krt84 keratin 84 gene DOID:630 genetic disease ISO RGD:1343377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702289 Elk3 ETS transcription factor ELK3 gene DOID:0060646 congenital chylothorax ISO RGD:1317144 D RGD:9068941 20220825 MouseDO OMIM:603523 8702289 Elk3 ETS transcription factor ELK3 gene DOID:630 genetic disease ISO RGD:1317143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702289 Elk3 ETS transcription factor ELK3 gene DOID:9008939 Breast Neoplasms ISO RGD:1317143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 8702289 Elk3 ETS transcription factor ELK3 gene DOID:9775 diastolic heart failure ISO RGD:1317143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8702310 Tex28 testis expressed 28 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342529 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:0050476 Barth syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8702310 Tex28 testis expressed 28 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:0112003 immunodeficiency 33 ISO RGD:1342529 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8702310 Tex28 testis expressed 28 gene DOID:10588 adrenoleukodystrophy ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:12849 autistic disorder ISO RGD:1342529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8702310 Tex28 testis expressed 28 gene DOID:13628 favism ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:2729 dyskeratosis congenita ISO RGD:1342529 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:607 paraplegia ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8702310 Tex28 testis expressed 28 gene DOID:9002720 Splenomegaly ISO RGD:1342529 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8702310 Tex28 testis expressed 28 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 8702310 Tex28 testis expressed 28 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1342529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 8702316 Habp4 hyaluronan binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1315131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8702316 Habp4 hyaluronan binding protein 4 gene DOID:630 genetic disease ISO RGD:1315131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702337 Pgp phosphoglycolate phosphatase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1351096 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 8702337 Pgp phosphoglycolate phosphatase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 8702337 Pgp phosphoglycolate phosphatase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8702337 Pgp phosphoglycolate phosphatase gene DOID:1826 epilepsy ISO RGD:1351096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8702337 Pgp phosphoglycolate phosphatase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8702337 Pgp phosphoglycolate phosphatase gene DOID:2871 endometrial carcinoma ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8702337 Pgp phosphoglycolate phosphatase gene DOID:630 genetic disease ISO RGD:1351096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702337 Pgp phosphoglycolate phosphatase gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8702344 Rps23 ribosomal protein S23 gene DOID:0070415 brachycephaly, trichomegaly, and developmental delay ISO RGD:1343302 D RGD:7240710 20190315 OMIM 8702344 Rps23 ribosomal protein S23 gene DOID:0070415 brachycephaly, trichomegaly, and developmental delay ISO RGD:1343302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay PMID:25741868|PMID:28257692 8702344 Rps23 ribosomal protein S23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8702359 Eml6 EMAP like 6 gene DOID:10126 keratoconus ISO RGD:2302327 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 8702359 Eml6 EMAP like 6 gene DOID:630 genetic disease ISO RGD:2302327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702408 Amer3 APC membrane recruitment protein 3 gene DOID:5419 schizophrenia ISO RGD:1601927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8702408 Amer3 APC membrane recruitment protein 3 gene DOID:630 genetic disease ISO RGD:1601927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702408 Amer3 APC membrane recruitment protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8702408 Amer3 APC membrane recruitment protein 3 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1601927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:13938 amenorrhea ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1342930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702432 Ncam2 neural cell adhesion molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8702457 Sparcl1 SPARC like 1 gene DOID:1826 epilepsy ISO RGD:736595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488994 8702457 Sparcl1 SPARC like 1 gene DOID:289 endometriosis ISO RGD:736595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8702457 Sparcl1 SPARC like 1 gene DOID:630 genetic disease ISO RGD:736595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702457 Sparcl1 SPARC like 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8702472 Gng13 G protein subunit gamma 13 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8702472 Gng13 G protein subunit gamma 13 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318585 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8702472 Gng13 G protein subunit gamma 13 gene DOID:1826 epilepsy ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8702472 Gng13 G protein subunit gamma 13 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8702472 Gng13 G protein subunit gamma 13 gene DOID:630 genetic disease ISO RGD:1318585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0050589 inflammatory bowel disease ISO RGD:736447 D RGD:9068941 20200609 RGD protein:increased expression PMID:21864296|REF_RGD_ID:5685671 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0060478 Zika fever ISO RGD:10742 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0060496 respiratory allergy ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0070004 myeloid neoplasm ISO RGD:10742 D RGD:9068941 20200609 RGD PMID:21937694|REF_RGD_ID:11354915 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736447 D RGD:9068941 20200609 RGD PMID:21209083|REF_RGD_ID:5685690 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:10320 asbestosis ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:11832 visual epilepsy ISO RGD:2843 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:25219120|REF_RGD_ID:11354919 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:10742 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21094208|REF_RGD_ID:5686293 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:2055 post-traumatic stress disorder ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:25331812|REF_RGD_ID:13782181 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:25632565|REF_RGD_ID:11354959 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:3070 high grade glioma ISO RGD:736447 D RGD:9068941 20200609 RGD protein:increased expression PMID:21112319|REF_RGD_ID:5685704 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10742 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lungs PMID:22227563|REF_RGD_ID:5685632 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:5199 ureteral obstruction treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:25707520|REF_RGD_ID:13782175 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:5844 myocardial infarction ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:630 genetic disease ISO RGD:736447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284|PMID:29698666 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:7148 rheumatoid arthritis ISO RGD:736447 D RGD:9068941 20200609 RGD protein:increased expression:synovial joint PMID:11315915|REF_RGD_ID:5685639 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:8552 chronic myeloid leukemia ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23777986 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:10742 D RGD:9068941 20200609 RGD mRNA: increased expression PMID:21933012|REF_RGD_ID:5685666 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2843 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney cortex, kidney medulla, liver (rat) PMID:32416216|REF_RGD_ID:401793731 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2843 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:21940431|REF_RGD_ID:5685664 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:2843 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:24463125|REF_RGD_ID:11354961 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney PMID:19301230|REF_RGD_ID:2311449 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:21927577|REF_RGD_ID:5685668 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9002955 Nerve Degeneration ISO RGD:2843 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21436843|REF_RGD_ID:5685686 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9004009 Reperfusion Injury ISO RGD:2843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, experimental (D003921): protein:increased expression:brain PMID:22075494|REF_RGD_ID:5685650 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2843 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9006532 Hematologic Neoplasms ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23777986 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:10742 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007456 Female Infertility ISO RGD:736447 D RGD:9068941 20200609 RGD PMID:22143970|REF_RGD_ID:5685640 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2843 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil: PMID:26464680|REF_RGD_ID:11354914 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2843 D RGD:9068941 20200609 RGD PMID:24129401|PMID:25547710|REF_RGD_ID:11354962|REF_RGD_ID:13782178 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:2843 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:10742 D RGD:9068941 20200609 RGD protein:increased expression PMID:20957756|REF_RGD_ID:5686342 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9452 steatotic liver disease ISO RGD:2843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver: PMID:23647685|REF_RGD_ID:11354957 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9452 steatotic liver disease treatment ISO RGD:10742 D RGD:9068941 20231019 RGD PMID:27813192|REF_RGD_ID:401842386 8702485 Hspa5 heat shock protein family A (Hsp70) member 5 gene DOID:9970 obesity ISO RGD:736447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26655953 8702498 Gsx1 GS homeobox 1 gene DOID:630 genetic disease ISO RGD:1320681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702509 Rigi RNA sensor RIG-I gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:1883 hepatitis C ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170495 8702509 Rigi RNA sensor RIG-I gene DOID:2365 West Nile encephalitis ISO RGD:1319813 D RGD:9068941 20210423 RGD mRNA:increased expression:brain PMID:24173226|REF_RGD_ID:126781836 8702509 Rigi RNA sensor RIG-I gene DOID:630 genetic disease ISO RGD:1319812 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:8893 psoriasis ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 8702509 Rigi RNA sensor RIG-I gene DOID:9000371 influenza A ISO RGD:1319813 D RGD:9068941 20210122 RGD mRNA:increased expression:nasal cavity mucosa (mouse) PMID:25751630|REF_RGD_ID:40925925 8702509 Rigi RNA sensor RIG-I gene DOID:9000918 Disease Progression ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170495 8702509 Rigi RNA sensor RIG-I gene DOID:9001488 Human Influenza ISO RGD:1319812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8702509 Rigi RNA sensor RIG-I gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:1319812 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:25780039 8702509 Rigi RNA sensor RIG-I gene DOID:9002133 Singleton-Merten Syndrome 2 ISO RGD:1319812 D RGD:7240710 20180130 OMIM 8702509 Rigi RNA sensor RIG-I gene DOID:9002133 Singleton-Merten Syndrome 2 ISO RGD:1319812 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Singleton-Merten syndrome 2 PMID:25620203|PMID:25741868|PMID:28180316|PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319812 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8702509 Rigi RNA sensor RIG-I gene DOID:9870 galactosemia ISO RGD:1319812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8702530 Exosc5 exosome component 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8702530 Exosc5 exosome component 5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8702530 Exosc5 exosome component 5 gene DOID:2340 craniosynostosis ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8702530 Exosc5 exosome component 5 gene DOID:630 genetic disease ISO RGD:1317301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702530 Exosc5 exosome component 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1317301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8702530 Exosc5 exosome component 5 gene DOID:9000918 Disease Progression ISO RGD:1317301 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8702530 Exosc5 exosome component 5 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8702530 Exosc5 exosome component 5 gene DOID:9003258 CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS ISO RGD:1317301 D RGD:7240710 20211208 OMIM 8702530 Exosc5 exosome component 5 gene DOID:9003258 CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS ISO RGD:1317301 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects PMID:25741868|PMID:29302074|PMID:30950035|PMID:32504085|PMID:34089229 8702530 Exosc5 exosome component 5 gene DOID:9269 maple syrup urine disease ISO RGD:1317301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8702540 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 8702540 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 8702540 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1322028 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8702540 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1322028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702540 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1322028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 8702540 Il22ra2 interleukin 22 receptor subunit alpha 2 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1322028 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:0050700 cardiomyopathy ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10603 glucose intolerance ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10603 glucose intolerance ISO RGD:730889 D RGD:9068941 20200609 RGD PMID:12511592|REF_RGD_ID:1302556 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:10779 septic myocarditis treatment ISO RGD:730889 D RGD:9068941 20201008 RGD PMID:27621180|REF_RGD_ID:39456138 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:14069 cerebral malaria ISO RGD:730889 D RGD:9068941 20201008 RGD mRNA:decreased expression:brain (mouse) PMID:29107705|REF_RGD_ID:39456137 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:630 genetic disease ISO RGD:730888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29753072 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9002189 High Myopia ISO RGD:730888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9002371 Cardiotoxicity ISO RGD:620893 D RGD:9068941 20230713 RGD protein:decreased expression:serum, heart (rat) PMID:30644033|REF_RGD_ID:329955369 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:620893 D RGD:9068941 20230713 RGD protein:decreased expression:serum, heart (rat) PMID:30644033|REF_RGD_ID:329955369 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9003936 Cardiomegaly ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18812163 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620893 D RGD:9068941 20231026 RGD PMID:32535406|REF_RGD_ID:401850547 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:730889 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007096 Stroke ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20847317 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007692 Insulin Resistance ISO RGD:730888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:730888 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16567511|REF_RGD_ID:1625266 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620893 D RGD:9068941 20231221 RGD PMID:20501665|REF_RGD_ID:10003160 8702555 Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730888 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16567511|REF_RGD_ID:1625266 8702598 Srek1ip1 SREK1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1604479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702598 Srek1ip1 SREK1 interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:630 genetic disease ISO RGD:1320757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:8445 intestinal volvulus ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9008386 Hydrops Fetalis ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 8702615 Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1316288 D RGD:7240710 20180130 OMIM 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1316288 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 | ClinVar Annotator: match by term: DYRK1B-related condition PMID:24827035|PMID:25741868|PMID:28492532|PMID:32041611 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316288 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:2340 craniosynostosis ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:2661 myoepithelioma ISO RGD:1316288 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:630 genetic disease ISO RGD:1316288 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20857490 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9269 maple syrup urine disease ISO RGD:1316288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8702642 Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8702681 Atf7 activating transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8702681 Atf7 activating transcription factor 7 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312669 D RGD:9068941 20200609 RGD PMID:26148593|REF_RGD_ID:11055686 8702700 Coq4 coenzyme Q4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8702700 Coq4 coenzyme Q4 gene DOID:0050952 spastic ataxia ISO RGD:1312192 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196|PMID:36047608|PMID:38013626 8702700 Coq4 coenzyme Q4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312192 D RGD:7240710 20180130 OMIM 8702700 Coq4 coenzyme Q4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312192 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:16199547|PMID:17576681|PMID:22368301|PMID:25658047|PMID:25741868|PMID:26185144|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28540186|PMID:30109123|PMID:30659264|PMID:31332438|PMID:31396399|PMID:31440721|PMID:31967322|PMID:32056211|PMID:32718099|PMID:32860008|PMID:32907636|PMID:33206935|PMID:33215859|PMID:33704555|PMID:34440436|PMID:34445196|PMID:36047608|PMID:38013626|PMID:38014483|PMID:9536098 8702700 Coq4 coenzyme Q4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8702700 Coq4 coenzyme Q4 gene DOID:630 genetic disease ISO RGD:1312192 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25658047|PMID:25741868|PMID:26185144|PMID:26795593|PMID:27513193|PMID:28492532|PMID:31967322|PMID:32056211|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196|PMID:9536098 8702700 Coq4 coenzyme Q4 gene DOID:9006071 Spastic Ataxia 10, Autosomal Recessive ISO RGD:1312192 D RGD:7240710 20240124 OMIM 8702700 Coq4 coenzyme Q4 gene DOID:9006071 Spastic Ataxia 10, Autosomal Recessive ISO RGD:1312192 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive PMID:17576681|PMID:25741868|PMID:26185144|PMID:28492532|PMID:30659264|PMID:31396399|PMID:33704555|PMID:36047608|PMID:38013626|PMID:38014483|PMID:9536098 8702700 Coq4 coenzyme Q4 gene DOID:9006534 Nervous System Malformations ISO RGD:1312192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:32860008|PMID:33215859 8702700 Coq4 coenzyme Q4 gene DOID:9008582 Developmental Disease ISO RGD:1312192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:32056211 8702712 Per2 period circadian regulator 2 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:737181 D RGD:9068941 20200609 RGD familial advanced sleep-phase syndrome, OMIM:604348, DNA:point mutation:exon:S662G PMID:11232563|REF_RGD_ID:1600411 8702712 Per2 period circadian regulator 2 gene DOID:0060001 withdrawal disorder ISO RGD:737181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20434889|PMID:20738730 8702712 Per2 period circadian regulator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8702712 Per2 period circadian regulator 2 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:737181 D RGD:7240710 20180130 OMIM 8702712 Per2 period circadian regulator 2 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:737181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 PMID:11232563|PMID:25741868 8702712 Per2 period circadian regulator 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8702712 Per2 period circadian regulator 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8702712 Per2 period circadian regulator 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:737181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8702712 Per2 period circadian regulator 2 gene DOID:1059 intellectual disability ISO RGD:737181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8702712 Per2 period circadian regulator 2 gene DOID:535 sleep disorder ISO RGD:737181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance 8702712 Per2 period circadian regulator 2 gene DOID:630 genetic disease ISO RGD:737181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702712 Per2 period circadian regulator 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:737181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 8702712 Per2 period circadian regulator 2 gene DOID:9000499 Alcoholic Intoxication ISO RGD:737181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15608650 8702712 Per2 period circadian regulator 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:737181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8702712 Per2 period circadian regulator 2 gene DOID:9002735 alcohol withdrawal syndrome severity ISO RGD:737181 D RGD:9068941 20240302 RGD mRNA:decreased expression:Peripheral blood mononuclear cell (human) PMID:20735373|REF_RGD_ID:401976556 8702712 Per2 period circadian regulator 2 gene DOID:9005111 morphine withdrawal syndrome ameliorates ISO RGD:62238 D RGD:9068941 20240229 RGD PMID:20434889|REF_RGD_ID:401976532 8702712 Per2 period circadian regulator 2 gene DOID:9975 cocaine dependence susceptibility ISO RGD:737181 D RGD:9068941 20240229 RGD DNA:repeats:: PMID:22832851|REF_RGD_ID:401976513 8702771 Hdac9 histone deacetylase 9 gene DOID:1936 atherosclerosis ISO RGD:1353912 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36322813 8702771 Hdac9 histone deacetylase 9 gene DOID:3525 middle cerebral artery infarction ISO RGD:1310748 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:23480850|REF_RGD_ID:9681449 8702771 Hdac9 histone deacetylase 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8702771 Hdac9 histone deacetylase 9 gene DOID:630 genetic disease ISO RGD:1353912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702771 Hdac9 histone deacetylase 9 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1353912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8702771 Hdac9 histone deacetylase 9 gene DOID:9006579 Auriculocondylar Syndrome 4 ISO RGD:1353912 D RGD:7240710 20230802 OMIM 8702771 Hdac9 histone deacetylase 9 gene DOID:9006579 Auriculocondylar Syndrome 4 ISO RGD:1353912 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 4 PMID:18000524|PMID:34750192 8702771 Hdac9 histone deacetylase 9 gene DOID:9007096 Stroke ISO RGD:1353912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306652 8702839 Tbl2 transducin beta like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8702839 Tbl2 transducin beta like 2 gene DOID:0080600 COVID-19 ISO RGD:1354068 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8702839 Tbl2 transducin beta like 2 gene DOID:10907 microcephaly ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8702839 Tbl2 transducin beta like 2 gene DOID:12849 autistic disorder ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8702839 Tbl2 transducin beta like 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1354068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8702839 Tbl2 transducin beta like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8702839 Tbl2 transducin beta like 2 gene DOID:5419 schizophrenia ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8702839 Tbl2 transducin beta like 2 gene DOID:630 genetic disease ISO RGD:1354068 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8702839 Tbl2 transducin beta like 2 gene DOID:8445 intestinal volvulus ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8702839 Tbl2 transducin beta like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8702839 Tbl2 transducin beta like 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1354068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8702856 Znf750 zinc finger protein 750 gene DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum ISO RGD:1602862 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum PMID:25741868 8702856 Znf750 zinc finger protein 750 gene DOID:630 genetic disease ISO RGD:1602862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8702856 Znf750 zinc finger protein 750 gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1602862 D RGD:7240710 20180130 OMIM 8702856 Znf750 zinc finger protein 750 gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1602862 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seborrhea-like dermatitis with psoriasiform elements PMID:16751772|PMID:25741868 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:1059 intellectual disability ISO RGD:1346418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8702863 Garnl3 GTPase activating Rap/RanGAP domain like 3 gene DOID:630 genetic disease ISO RGD:1346418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702923 Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8702923 Ss18l1 SS18L1 subunit of BAF chromatin remodeling complex gene DOID:630 genetic disease ISO RGD:1345361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:1793 pancreatic cancer ISO RGD:1344294 D RGD:9068941 20200609 RGD DNA:amplification (human) PMID:19145645|REF_RGD_ID:2317557 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:5419 schizophrenia ISO RGD:1344294 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:15098003|REF_RGD_ID:11571619 8702957 Arpc1a actin related protein 2/3 complex subunit 1A gene DOID:630 genetic disease ISO RGD:1344294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702971 Tmem120a transmembrane protein 120A gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:1605325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 8702971 Tmem120a transmembrane protein 120A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8702971 Tmem120a transmembrane protein 120A gene DOID:630 genetic disease ISO RGD:1605325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702971 Tmem120a transmembrane protein 120A gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1605325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8702994 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:0111041 glycogen storage disease IXB ISO RGD:1342698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 8702994 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:4961 bone marrow disease ISO RGD:1342698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 8702994 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:630 genetic disease ISO RGD:1342698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8702994 Abcc12 ATP binding cassette subfamily C member 12 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1342698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:2340 craniosynostosis ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:630 genetic disease ISO RGD:1316854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8703039 Numbl NUMB like endocytic adaptor protein gene DOID:9269 maple syrup urine disease ISO RGD:1316854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8703055 Polr1h RNA polymerase I subunit H gene DOID:11372 megacolon ISO RGD:1351679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8703055 Polr1h RNA polymerase I subunit H gene DOID:9000217 Stomach Neoplasms ISO RGD:1351679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16609701 8703055 Polr1h RNA polymerase I subunit H gene DOID:9002170 Experimental Neoplasms ISO RGD:1351679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16609701 8703074 Spmip9 sperm microtubule inner protein 9 gene DOID:630 genetic disease ISO RGD:1602971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703091 Tmem143 transmembrane protein 143 gene DOID:630 genetic disease ISO RGD:1602477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:0080000 muscular disease ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:10914 amnestic disorder ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:18570192|REF_RGD_ID:6482184 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:17267119|REF_RGD_ID:6482188 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1561 cognitive disorder ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:21558435|REF_RGD_ID:6480666 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1574 alcohol use disorder ISO RGD:1346949 D RGD:9068941 20211008 RGD DNA:SNP:intron: (rs7916403) (human) PMID:21184583|REF_RGD_ID:150429835 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1596 depressive disorder ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1596 depressive disorder ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:16828124|REF_RGD_ID:6482189 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1825 childhood absence epilepsy ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:15050708|REF_RGD_ID:6480686 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:1826 epilepsy ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:17485199|REF_RGD_ID:6482190 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:16828124|REF_RGD_ID:6482189 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:2030 anxiety disorder ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:16828124|REF_RGD_ID:6482189 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:535 sleep disorder ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:5419 schizophrenia ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12165372 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:630 genetic disease ISO RGD:1346949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:6364 migraine ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:20236348|REF_RGD_ID:6482182 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:8927 learning disability ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9000641 Pain ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9000998 Brain Injuries ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:22465320|REF_RGD_ID:6482178 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:71034 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:21693130|REF_RGD_ID:6480665 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9002211 Hyperalgesia ISO RGD:71034 D RGD:9068941 20200609 RGD PMID:21693130|PMID:21843960|REF_RGD_ID:6480665|REF_RGD_ID:6482179 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9002362 Hyperkinesis ISO RGD:732164 D RGD:9068941 20200609 RGD PMID:18332680|REF_RGD_ID:6482186 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9008023 Memory Disorders ISO RGD:1346949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21859099 8703103 Htr7 5-hydroxytryptamine receptor 7 gene DOID:9778 irritable bowel syndrome ISO RGD:71034 D RGD:9068941 20200609 RGD protein:increased expression:brain, intestine PMID:18167178|REF_RGD_ID:6480673 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1604314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:10283 prostate cancer ISO RGD:1604314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:2717 Bloom syndrome ISO RGD:1604314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:630 genetic disease ISO RGD:1604314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703124 Crtc3 CREB regulated transcription coactivator 3 gene DOID:9256 colorectal cancer ISO RGD:1604314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8703142 Ubxn2b UBX domain protein 2B gene DOID:630 genetic disease ISO RGD:2299012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703164 Psmb6 proteasome 20S subunit beta 6 gene DOID:630 genetic disease ISO RGD:1349289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1320683 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8703174 Cmtm4 CKLF like MARVEL transmembrane domain containing 4 gene DOID:630 genetic disease ISO RGD:1320683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703196 Lypd6b LY6/PLAUR domain containing 6B gene DOID:630 genetic disease ISO RGD:1602653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703205 Ilrun inflammation and lipid regulator with UBA-like and NBR1-like domains gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1601978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8703225 Alkbh1 alkB homolog 1, histone H2A dioxygenase gene DOID:630 genetic disease ISO RGD:1318033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703235 Sall1 spalt like transcription factor 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1320515 D RGD:7240710 20180130 OMIM 8703235 Sall1 spalt like transcription factor 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1320515 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, sensorineural, with imperforate anus and hypoplastic thumbs | ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome PMID:10533063|PMID:10819639|PMID:10928856|PMID:11102974|PMID:11478532|PMID:11484202|PMID:12915476|PMID:14627694|PMID:14755477|PMID:16088922|PMID:16429401|PMID:16971658|PMID:17221874|PMID:17431915|PMID:17576681|PMID:18000979|PMID:19005989|PMID:19429598|PMID:20301618|PMID:22308078|PMID:23069192|PMID:23894113|PMID:24429398|PMID:25741868|PMID:25741886|PMID:26380986|PMID:26467025|PMID:26489027|PMID:27073431|PMID:27657687|PMID:28492532|PMID:29395072|PMID:29758562|PMID:30143558|PMID:30311386|PMID:30655312|PMID:8133838|PMID:9425907|PMID:9536098|PMID:9973281 8703235 Sall1 spalt like transcription factor 1 gene DOID:0080205 CAKUT ISO RGD:1320515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30143558 8703235 Sall1 spalt like transcription factor 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1320515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:0111766 X-linked VACTERL association ISO RGD:1320515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VACTERL-H PMID:25741868 8703235 Sall1 spalt like transcription factor 1 gene DOID:10907 microcephaly ISO RGD:1320515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8703235 Sall1 spalt like transcription factor 1 gene DOID:14766 renal agenesis ISO RGD:1320516 D RGD:9068941 20221103 RGD PMID:11688560|REF_RGD_ID:155641230 8703235 Sall1 spalt like transcription factor 1 gene DOID:2810 middle lobe syndrome ISO RGD:1320515 D RGD:9068941 20200609 RGD Townes-Brocks syndrome. OMIM:602218 PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553 8703235 Sall1 spalt like transcription factor 1 gene DOID:5176 renal Wilms' tumor ISO RGD:1320515 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 8703235 Sall1 spalt like transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8703235 Sall1 spalt like transcription factor 1 gene DOID:687 hepatoblastoma ISO RGD:1320515 D RGD:9068941 20200609 RGD embryonal subtype;protein:increased expression:liver, nucleus (human) PMID:23822878|REF_RGD_ID:11556217 8703235 Sall1 spalt like transcription factor 1 gene DOID:784 chronic kidney disease treatment ISO RGD:1320515 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 8703235 Sall1 spalt like transcription factor 1 gene DOID:9004452 Townes-Brocks-Branchiootorenal-Like Syndrome ISO RGD:1320515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome PMID:10928856|PMID:12915476|PMID:14755477|PMID:16088922|PMID:23069192|PMID:28492532|PMID:9973281 8703235 Sall1 spalt like transcription factor 1 gene DOID:9004994 Embryo Loss ISO RGD:1320516 D RGD:9068941 20221103 RGD PMID:11688560|REF_RGD_ID:155641230 8703235 Sall1 spalt like transcription factor 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1320515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20127799 8703235 Sall1 spalt like transcription factor 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16088922|PMID:9425907 8703235 Sall1 spalt like transcription factor 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1320515 D RGD:9068941 20200609 RGD Townes-Brocks syndrome. OMIM:602218 PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553 8703255 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8703255 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:1059 intellectual disability ISO RGD:1349786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8703255 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:12849 autistic disorder ISO RGD:1349786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8703255 Gprasp1 G protein-coupled receptor associated sorting protein 1 gene DOID:630 genetic disease ISO RGD:1349786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703262 CUNH1orf127 chromosome unknown C1orf127 homolog gene DOID:0050144 Kartagener syndrome ISO RGD:1617356 D RGD:9068941 20220825 MouseDO 8703262 CUNH1orf127 chromosome unknown C1orf127 homolog gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8703262 CUNH1orf127 chromosome unknown C1orf127 homolog gene DOID:0050545 visceral heterotaxy ISO RGD:1617356 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8703262 CUNH1orf127 chromosome unknown C1orf127 homolog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606706 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8703262 CUNH1orf127 chromosome unknown C1orf127 homolog gene DOID:0111936 immunodeficiency 14 ISO RGD:1606706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8703262 CUNH1orf127 chromosome unknown C1orf127 homolog gene DOID:630 genetic disease ISO RGD:1606706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703262 CUNH1orf127 chromosome unknown C1orf127 homolog gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1606706 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 8703262 CUNH1orf127 chromosome unknown C1orf127 homolog gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8703262 CUNH1orf127 chromosome unknown C1orf127 homolog gene DOID:9562 primary ciliary dyskinesia ISO RGD:1617356 D RGD:9068941 20220825 MouseDO 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314214 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314214 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:1059 intellectual disability ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:11198 DiGeorge syndrome ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:11372 megacolon ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:12583 velocardiofacial syndrome ISO RGD:1314214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:12849 autistic disorder ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:1826 epilepsy ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:5419 schizophrenia ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:612 primary immunodeficiency disease ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:630 genetic disease ISO RGD:1314214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703281 Slc7a4 solute carrier family 7 member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8703293 Rgs7bp regulator of G protein signaling 7 binding protein gene DOID:630 genetic disease ISO RGD:1604905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703293 Rgs7bp regulator of G protein signaling 7 binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050575 D-2-hydroxyglutaric aciduria treatment ISO RGD:1557355 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R140Q(mouse) PMID:27469509|REF_RGD_ID:13506812 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050580 hereditary lymphedema ISO RGD:1313391 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21647154|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080005 bone remodeling disease ISO RGD:1557355 D RGD:9068941 20220825 MouseDO 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080546 non-alcoholic fatty liver severity ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:29861476|REF_RGD_ID:14985251 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080546 non-alcoholic fatty liver susceptibility ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:31064654|REF_RGD_ID:14985252 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ameliorates ISO RGD:1557355 D RGD:9068941 20210730 RGD PMID:28415887|REF_RGD_ID:14985253 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1313391 D RGD:7240710 20190918 OMIM 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:30975432|PMID:34641967|PMID:9536098 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:10534 stomach cancer ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:decreased expression:stomach (human) PMID:27466503|REF_RGD_ID:149735569 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1313391 D RGD:9068941 20210730 RGD protein:decreased expression:stomach (human) PMID:25098926|REF_RGD_ID:149735841 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1074 kidney failure ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11111 hydronephrosis ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11476 osteoporosis ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1324 lung cancer ISO RGD:1313391 D RGD:9068941 20210723 RGD PMID:30128035|REF_RGD_ID:149735564 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:1824 status epilepticus ISO RGD:1597139 D RGD:9068941 20200609 RGD protein:increased acetylation:hippocampus PMID:29778462|REF_RGD_ID:14985255 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:255 hemangioma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:2602 chondroma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234|PMID:25895133 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:2717 Bloom syndrome ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3070 high grade glioma ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3181 oligodendroglioma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20160062 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3307 teratoma ISO RGD:1313391 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:331 central nervous system disease ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1313391 D RGD:9068941 20210723 RGD human cells in mouse model PMID:32367071|REF_RGD_ID:149735568 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:lung (human) PMID:30128035|REF_RGD_ID:149735564 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:blood serum (human) PMID:29465809|REF_RGD_ID:149735567 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1313391 D RGD:9068941 20210723 RGD DNA:SNP:CD: (rs11540478) C>T (human) PMID:27649069|REF_RGD_ID:149735566 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1313391 D RGD:9068941 20210820 RGD DNA:SNP: (rs11540478) (human) PMID:25576295|REF_RGD_ID:150340558 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:lung (human) PMID:30128035|REF_RGD_ID:149735564 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313391 D RGD:9068941 20210723 RGD protein:increased expression:blood serum (human) PMID:29465809|REF_RGD_ID:149735567 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4624 Ollier disease ISO RGD:1313391 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:18414213|PMID:25741868|PMID:28492532 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1557355 D RGD:9068941 20210730 RGD mRNA:decreased expression:liver (mouse) PMID:32463951|REF_RGD_ID:149735894 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22824796|REF_RGD_ID:14985256 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs11632348(human) PMID:25355558|REF_RGD_ID:14974228 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:630 genetic disease ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:6536 plasma cell neoplasm ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD PMID:24716838|REF_RGD_ID:14985249 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:8398 osteoarthritis ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:28938192|REF_RGD_ID:14985248 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9003191 Vascular Malformations ISO RGD:1313391 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Vascular malformation 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9003571 Paraproteinemias ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9003936 Cardiomegaly ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006205 Animal Disease Models ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006257 Growth Disorders ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:31064654|REF_RGD_ID:14985252 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1557355 D RGD:9068941 20200609 RGD PMID:31121248|REF_RGD_ID:14985250 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21647154|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27469509 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313391 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:28492532 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20171147|PMID:20847235|PMID:20946881|PMID:21250968|PMID:21596855|PMID:21647154|PMID:21889589|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R140 (human) PMID:25324972|REF_RGD_ID:11522721 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313391 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R172(human) PMID:20368543|REF_RGD_ID:11522718 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9256 colorectal cancer ISO RGD:1313391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9408 acute myocardial infarction ISO RGD:1313391 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute myocardial infarction PMID:20946881|PMID:21250968|PMID:21596855|PMID:21997850|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22616558|PMID:22898539|PMID:23949315|PMID:24606448|PMID:25157968|PMID:26619011 8703303 Idh2 isocitrate dehydrogenase (NADP(+)) 2 gene DOID:9538 multiple myeloma ISO RGD:1313391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:20171147|PMID:20847235|PMID:20946881|PMID:21647154|PMID:21889589|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558173|PMID:23815907|PMID:23949315|PMID:24049096|PMID:24589777|PMID:24606448|PMID:25157968|PMID:25326635|PMID:25398939|PMID:25741868|PMID:26619011|PMID:28166811|PMID:28492532|PMID:34641967 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:14250 Down syndrome ISO RGD:1350526 D RGD:9068941 20200609 RGD protein:increased expression:amniotic fluid (human) PMID:16847874|REF_RGD_ID:11039402 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:234 colon adenocarcinoma ISO RGD:1350526 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (human) PMID:9865741|REF_RGD_ID:11039405 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350526 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:630 genetic disease ISO RGD:1350526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703320 Srsf4 serine and arginine rich splicing factor 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1350526 D RGD:9068941 20200609 RGD mRNA:decreased expression: (human) PMID:22722453|REF_RGD_ID:11039059 8703342 Haus2 HAUS augmin like complex subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1321425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8703342 Haus2 HAUS augmin like complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703342 Haus2 HAUS augmin like complex subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1321425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8703413 Acad10 acyl-CoA dehydrogenase family member 10 gene DOID:630 genetic disease ISO RGD:1346668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:11335693|PMID:11354824|PMID:12398840|PMID:16199547|PMID:17576681|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:14530412|PMID:16199547|PMID:17576681|PMID:17973976|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:8190646|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1323545 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10802647|PMID:10856930|PMID:11283303|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:12668758|PMID:12925573|PMID:14530412|PMID:16162938|PMID:16199547|PMID:17576681|PMID:17973976|PMID:19587293|PMID:20410104|PMID:20981092|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:32214227|PMID:32376792|PMID:32657593|PMID:8190646|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 PMID:28492532 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0110191 Charcot-Marie-Tooth disease type 4B1 ISO RGD:1323545 D RGD:7240710 20180130 OMIM 8703441 Mtmr2 myotubularin related protein 2 gene DOID:0110191 Charcot-Marie-Tooth disease type 4B1 ISO RGD:1323545 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1 PMID:10802647|PMID:11354824|PMID:12398840|PMID:17576681|PMID:20301641|PMID:20981092|PMID:25741868|PMID:26467025|PMID:27582484|PMID:27884173|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32214227|PMID:32376792|PMID:9536098 8703441 Mtmr2 myotubularin related protein 2 gene DOID:1059 intellectual disability ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8703441 Mtmr2 myotubularin related protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1323545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10802647|PMID:11335693|PMID:11354824|PMID:12045210|PMID:12398840|PMID:14530412|PMID:15469949|PMID:15505184|PMID:17973976|PMID:20981092|PMID:23781969|PMID:25025039|PMID:25231362|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792 8703441 Mtmr2 myotubularin related protein 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1323545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8703441 Mtmr2 myotubularin related protein 2 gene DOID:630 genetic disease ISO RGD:1323545 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10802647|PMID:10856930|PMID:11283303|PMID:12668758|PMID:12925573|PMID:14530412|PMID:15998640|PMID:16162938|PMID:17576681|PMID:19587293|PMID:20410104|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:31070812|PMID:31680794|PMID:32376792|PMID:32657593|PMID:9536098 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1323005 D RGD:9068941 20221020 RGD mRNA:decreased expression:colorectum (human) PMID:22966016|REF_RGD_ID:155598682 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060058 lymphoma susceptibility ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:11238917|REF_RGD_ID:11567233 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0060240 UV-sensitive syndrome ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26972010 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080199 colorectal carcinoma treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD human cell line in a mouse model PMID:28665687|REF_RGD_ID:155260341 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 ISO RGD:1323005 D RGD:7240710 20240221 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080868 primary ovarian insufficiency 11 ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:10196384|PMID:10767341|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26218421|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1323005 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B ISO RGD:1323005 D RGD:7240710 20240221 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080908 Cockayne syndrome B ISO RGD:1323005 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cockayne Syndrome, Type II | ClinVar Annotator: match by term: Cockayne syndrome B PMID:10196384|PMID:10767341|PMID:11809892|PMID:1339317|PMID:15486090|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18446857|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25026993|PMID:25136123|PMID:25251875|PMID:25326635|PMID:25356239|PMID:25741868|PMID:25820262|PMID:26206375|PMID:26749132|PMID:27004399|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:29955172|PMID:30111349|PMID:30842647|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:32860008|PMID:34052969|PMID:35135151|PMID:36099812|PMID:7063265|PMID:7264357|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098|PMID:9777763 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080910 cerebrooculofacioskeletal syndrome ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFS syndrome | ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome PMID:18414213|PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:7240710 20240221 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1323005 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 | ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II PMID:10196384|PMID:10739753|PMID:10767341|PMID:11809892|PMID:1339317|PMID:17576681|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25026993|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:35135151|PMID:36099812|PMID:7063265|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 ISO RGD:1323005 D RGD:7240710 20240221 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0110028 age related macular degeneration 5 ISO RGD:1323005 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:10196384|PMID:10767341|PMID:16754848|PMID:17576681|PMID:17854076|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:24154677|PMID:25026993|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:35135151|PMID:36099812|PMID:9443879|PMID:9536098 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome ISO RGD:1323005 D RGD:7240710 20240221 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:0112158 De Sanctis-Cacchione syndrome ISO RGD:1323005 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:10196384|PMID:10767341|PMID:11809892|PMID:1339317|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:20122405|PMID:20456449|PMID:21143350|PMID:21228398|PMID:22661500|PMID:22904069|PMID:23311583|PMID:23422418|PMID:23428416|PMID:24033266|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25356239|PMID:25463447|PMID:25741868|PMID:25820262|PMID:26206375|PMID:26218421|PMID:26620705|PMID:27004399|PMID:27186691|PMID:27356891|PMID:28170084|PMID:28440418|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:33904453|PMID:34005834|PMID:34052969|PMID:7063265|PMID:887325|PMID:9150142|PMID:9443879|PMID:9536098 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10003 sensorineural hearing loss ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:25762674|REF_RGD_ID:11567237 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10534 stomach cancer exacerbates ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:enhancer: (rs1917799) (human) PMID:27340861|REF_RGD_ID:155260339 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10534 stomach cancer exacerbates ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10629 microphthalmia ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10739753 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:10907 microcephaly ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10739753|PMID:18628313 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:11372 megacolon ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer ISO RGD:1323005 D RGD:7240710 20240221 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer ISO RGD:1323005 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:10767341|PMID:16754848|PMID:17854076|PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:22661500|PMID:22904069|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:30111349|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer disease_progression ISO RGD:1323005 D RGD:9068941 20200609 RGD DNA:SNPs: :p.G399D, p.Q1413R (human) PMID:17855454|REF_RGD_ID:11567235 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer no_association ISO RGD:1323005 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:18789574|REF_RGD_ID:11567231 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer susceptibility ISO RGD:1323005 D RGD:9068941 20240222 RGD DNA:point mutation:promoter::c.-6530C>G (rs3793784) (human) PMID:17854076|REF_RGD_ID:11561791 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1324 lung cancer susceptibility ISO RGD:1323005 D RGD:9068941 20240222 RGD mRNA:decreased expression:lung (human) PMID:10910954|REF_RGD_ID:155260338 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:14184 polyneuropathy due to drug treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD associated with colorectal cancer;DNA:missense mutations:CDS:p.D425A, p.G446D, p.S797C (rs4253046, rs4253047, rs146043988) (human) PMID:35135151|REF_RGD_ID:155260345 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:14261 fragile X syndrome ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:24352881|REF_RGD_ID:10401097 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:1749 squamous cell carcinoma severity ISO RGD:1622854 D RGD:9068941 20200609 RGD associated with Cockayne Syndrome PMID:9150142|REF_RGD_ID:10401099 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:224 transient cerebral ischemia ISO RGD:1311509 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:10437118|REF_RGD_ID:10401104 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2596 larynx cancer susceptibility ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.R1230P (human) PMID:19444904|REF_RGD_ID:155260337 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:2962 Cockayne syndrome ISO RGD:1323005 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:15486090|PMID:16199547|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20122405|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:25326635|PMID:25741868|PMID:25820262|PMID:26206375|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29203878|PMID:29572252|PMID:29915382|PMID:29955172|PMID:30111349|PMID:31130284|PMID:31501894|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32557569|PMID:32853555|PMID:34052969|PMID:7264357|PMID:9443879|PMID:9777763 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3355 fibrosarcoma susceptibility ISO RGD:1622854 D RGD:9068941 20200609 RGD PMID:11238917|REF_RGD_ID:11567233 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3525 middle cerebral artery infarction ISO RGD:1311509 D RGD:9068941 20200609 RGD PMID:9974119|REF_RGD_ID:10401103 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3905 lung carcinoma ISO RGD:1323005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:10196384|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3907 lung squamous cell carcinoma ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA, protein:increased expression:lung (human) PMID:31615563|REF_RGD_ID:155260344 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs4253002) (human) PMID:28924235|REF_RGD_ID:153323316 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:3910 lung adenocarcinoma ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA, protein:increased expression:lung (human) PMID:31615563|REF_RGD_ID:155260344 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18414213|PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:4448 macular degeneration onset ISO RGD:1323005 D RGD:9068941 20200609 RGD PMID:21072178|REF_RGD_ID:10401096 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5419 schizophrenia ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1323005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:1323005 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:18628313|PMID:19894250|PMID:20456449|PMID:21228398|PMID:23311583|PMID:23428416|PMID:25251875|PMID:25326635|PMID:25356239|PMID:25741868|PMID:27004399|PMID:27356891|PMID:28440418|PMID:28492532|PMID:29572252|PMID:7063265|PMID:9443879 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:83 cataract ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9002644 Premature Aging ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25440059 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1323005 D RGD:9068941 20221006 RGD associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) PMID:28924235|REF_RGD_ID:153323316 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9004538 Hearing Loss ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25440059 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms ISO RGD:1323005 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism PMID:17854076 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1323005 D RGD:9068941 20240118 RGD DNA:SNPs: :rs3793784, rs12571445 (human) PMID:18789574|REF_RGD_ID:11567231 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006257 Growth Disorders ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 ISO RGD:1323005 D RGD:7240710 20240221 OMIM 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9006274 UV-Sensitive Syndrome 1 ISO RGD:1323005 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 | ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:10196384|PMID:10767341|PMID:15486090|PMID:18414213|PMID:18628313|PMID:18784753|PMID:19894250|PMID:21143350|PMID:21228398|PMID:22466610|PMID:22483866|PMID:22661500|PMID:22904069|PMID:23311583|PMID:24154677|PMID:25136123|PMID:25326635|PMID:25741868|PMID:25820262|PMID:27004399|PMID:27356891|PMID:28492532|PMID:29572252|PMID:29915382|PMID:30111349|PMID:7264357|PMID:9443879|PMID:9777763 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008514 Psychomotor Disorders ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628313 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:SNP:exon: (rs2228526) (human) PMID:29151331|REF_RGD_ID:155260348 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer ISO RGD:1323005 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 8703468 Ercc6 ERCC excision repair 6, chromatin remodeling factor gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323005 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.R1213G (human) PMID:17119055|REF_RGD_ID:155260340 8703493 Eps15l1 epidermal growth factor receptor pathway substrate 15 like 1 gene DOID:630 genetic disease ISO RGD:1345399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703523 Angel1 angel homolog 1 gene DOID:1059 intellectual disability ISO RGD:1314740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8703523 Angel1 angel homolog 1 gene DOID:630 genetic disease ISO RGD:1314740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703555 Syf2 SYF2 pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1603674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703555 Syf2 SYF2 pre-mRNA splicing factor gene DOID:9588 encephalitis ISO RGD:621592 D RGD:9068941 20200609 RGD PMID:24301298|REF_RGD_ID:10059414 8703567 Armc6 armadillo repeat containing 6 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1348624 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 8703567 Armc6 armadillo repeat containing 6 gene DOID:630 genetic disease ISO RGD:1348624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703567 Armc6 armadillo repeat containing 6 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1348624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8703585 Aftph aftiphilin gene DOID:630 genetic disease ISO RGD:1606558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703608 Sox15 SRY-box transcription factor 15 gene DOID:0060224 atrial fibrillation ISO RGD:1323788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8703608 Sox15 SRY-box transcription factor 15 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1323788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8703608 Sox15 SRY-box transcription factor 15 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1323788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F 8703608 Sox15 SRY-box transcription factor 15 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1323788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8703608 Sox15 SRY-box transcription factor 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1323788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8703608 Sox15 SRY-box transcription factor 15 gene DOID:12177 common variable immunodeficiency ISO RGD:1323788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8703608 Sox15 SRY-box transcription factor 15 gene DOID:2729 dyskeratosis congenita ISO RGD:1323788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8703608 Sox15 SRY-box transcription factor 15 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1323788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8703608 Sox15 SRY-box transcription factor 15 gene DOID:630 genetic disease ISO RGD:1323788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703620 Plin5 perilipin 5 gene DOID:13938 amenorrhea ISO RGD:2881444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8703620 Plin5 perilipin 5 gene DOID:630 genetic disease ISO RGD:2881444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703642 Hexd hexosaminidase D gene DOID:630 genetic disease ISO RGD:1602417 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703664 Ckm creatine kinase, M-type gene DOID:326 ischemia ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912612 8703664 Ckm creatine kinase, M-type gene DOID:5844 myocardial infarction ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359538|PMID:3279722 8703664 Ckm creatine kinase, M-type gene DOID:630 genetic disease ISO RGD:737472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703664 Ckm creatine kinase, M-type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 8703664 Ckm creatine kinase, M-type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737472 D RGD:9068941 20200609 RGD PMID:12039490|REF_RGD_ID:1598441 8703664 Ckm creatine kinase, M-type gene DOID:9002928 Colonic Neoplasms ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8703664 Ckm creatine kinase, M-type gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406506 8703676 Hcfc2 host cell factor C2 gene DOID:630 genetic disease ISO RGD:1316555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0014667 disease of metabolism ISO RGD:731747 D RGD:9068941 20220825 MouseDO 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:7240710 20180130 OMIM 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18559669|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:18925961|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19773259|PMID:19798502|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21555152|PMID:21567923|PMID:21590266|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23825065|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25722345|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:26084119|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:731746 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:27659786|PMID:27783593|PMID:28051113|PMID:28074573|PMID:28098151|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29057136|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31263281|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31637070|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:35418823|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36349709|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050469 Costello syndrome ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050700 cardiomyopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:18759865|PMID:21934682|PMID:22923420|PMID:24033266|PMID:24803665|PMID:25500235|PMID:25612910|PMID:25741868|PMID:27153395|PMID:28051113|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0050868 hepatocellular adenoma ISO RGD:731747 D RGD:9068941 20220825 MouseDO 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060041 autism spectrum disorder ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060058 lymphoma ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12960218|PMID:14644997|PMID:15001945|PMID:15928039|PMID:16498234|PMID:17497712|PMID:19077116|PMID:20301303|PMID:21407260|PMID:21533187|PMID:22420426|PMID:22465605|PMID:22711529|PMID:23624134|PMID:23771920|PMID:24033266|PMID:24037001|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24935154|PMID:25156961|PMID:25337068|PMID:25741868|PMID:25741869|PMID:25862627|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26817465|PMID:27038324|PMID:27104176|PMID:28492532|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30417923|PMID:30692697|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32901917|PMID:34008892 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CFC syndrome PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060249 scoliosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060250 idiopathic scoliosis ISO RGD:731747 D RGD:9068941 20220825 MouseDO 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060260 ptosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ptosis PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731746 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:7240710 20180130 OMIM 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23832011|PMID:23917401|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060578 Noonan syndrome 1 ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29758562|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:35418823|PMID:35885957|PMID:35904599|PMID:35979676|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0060581 Noonan syndrome 3 ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:11704759|PMID:11992261|PMID:12161469|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14644997|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15723289|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16467864|PMID:16498234|PMID:16638574|PMID:16733669|PMID:16804314|PMID:16990350|PMID:17020470|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17546245|PMID:17641779|PMID:17661820|PMID:17972951|PMID:18241070|PMID:18286234|PMID:18372317|PMID:18470943|PMID:18505544|PMID:18678287|PMID:18759865|PMID:18854871|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19179468|PMID:19273734|PMID:19582499|PMID:19706403|PMID:19737548|PMID:20112233|PMID:20186801|PMID:20301303|PMID:20301557|PMID:20308328|PMID:2057894|PMID:20578946|PMID:20718194|PMID:20931536|PMID:20954246|PMID:21106241|PMID:21204800|PMID:21321969|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:22058153|PMID:22190897|PMID:22315187|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22847776|PMID:22848035|PMID:23321623|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23756559|PMID:23771920|PMID:23832011|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24150203|PMID:24219368|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24803665|PMID:24821303|PMID:24931631|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25253770|PMID:25326635|PMID:25337068|PMID:25359717|PMID:25395418|PMID:25585602|PMID:25595571|PMID:25708222|PMID:25724491|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25914815|PMID:26084119|PMID:26242988|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26742426|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27193571|PMID:27276561|PMID:27460089|PMID:27521173|PMID:27626068|PMID:27683039|PMID:27884971|PMID:28363362|PMID:28492532|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30541462|PMID:30692697|PMID:30732632|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32371413|PMID:32581362|PMID:32901917|PMID:34008892|PMID:34782754|PMID:35418823|PMID:35885957 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:7240710 20190320 OMIM 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25263441|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25381062|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26645620|PMID:26673822|PMID:26742426 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080548 Noonan syndrome with multiple lentigines 1 ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 1 PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27959697|PMID:28051113|PMID:28074573|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32719394|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:35418823|PMID:35885957|PMID:35904599|PMID:35979676|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28166811|PMID:28363362|PMID:28366775|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29907801|PMID:29988639|PMID:30266093|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30577886|PMID:30604644|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31560489|PMID:31573083|PMID:31827275|PMID:32164556|PMID:32165824|PMID:32581362|PMID:32627857|PMID:32860008|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23757202|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25500235|PMID:25533962|PMID:25544017 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19651601|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23757202|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28166811|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32794475|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:34006472|PMID:34008892|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16032767|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16533526|PMID:16557282|PMID:16566035|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21597774|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26203125|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: RASopathy PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25363768|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31134136|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34782754|PMID:35904599|PMID:36349709|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15211660|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15521065|PMID:15539800|PMID:15604238|PMID:15644411|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16199547|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16557282|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17301821|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17942397|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18260110|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18348260|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18559669|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19651601|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19760651|PMID:19768645|PMID:19795160|PMID:19798502|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20112233|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:20577567|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23312806|PMID:23317994|PMID:23321623|PMID:23334666|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23957426|PMID:23996481|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24739123|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24821303 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080690 RASopathy ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:24939587|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25331952|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25695693|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25802336|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26223499|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26457647|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26783207|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26833328|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27763634|PMID:27783593|PMID:27876779|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28125078|PMID:28135719|PMID:28363362|PMID:28366775|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29437595|PMID:29493581|PMID:29517769|PMID:29533785|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30266093|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30577886|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:30919686|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31263281|PMID:31324109|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32627857|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34184824|PMID:34358384|PMID:34782754|PMID:35418823|PMID:35885957|PMID:35904599|PMID:35979676|PMID:36349709|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:731746 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:15384080|PMID:16358218|PMID:16804314|PMID:17020470|PMID:24803665|PMID:25741868|PMID:27993330|PMID:28492532|PMID:32786180 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ASD II PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:7240710 20180130 OMIM 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Metachondromatosis PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19352411|PMID:19449407|PMID:19509418|PMID:19568997|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20577567|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326637|PMID:25337068|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:25722345|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:26084119|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26645620|PMID:26673822|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:28051113|PMID:28074573|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111512 metachondromatosis ISO RGD:731746 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Metachondromatosis PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29057136|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31637070|PMID:31827275|PMID:32059087|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32719394|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:35418823|PMID:35885957|PMID:35904599|PMID:35979676|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:22465605|PMID:28074573|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12717436|PMID:14644997|PMID:15385933|PMID:15710330|PMID:15928039|PMID:16358218|PMID:17972951|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:27069254|PMID:28098151|PMID:30868567 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10534 stomach cancer ISO RGD:731746 D RGD:9068941 20201001 RGD DNA:SNPs::rs12229892, rs2301756(human) PMID:27614952|REF_RGD_ID:39128246 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1059 intellectual disability ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:24033266|PMID:24451042|PMID:24935154|PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1059 intellectual disability ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301303|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24451042|PMID:24935154|PMID:25741868|PMID:26833328|PMID:28492532|PMID:34136434 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:10907 microcephaly ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11704759|PMID:11992261|PMID:12717436|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15928039|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:18470943|PMID:18562489|PMID:19020799|PMID:19737548|PMID:19795160|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30325180|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362|PMID:33726816 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11168 anogenital venereal wart ISO RGD:731746 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11992261|PMID:12058348|PMID:12960218|PMID:14644997|PMID:14961557|PMID:15001945|PMID:15121796|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15987685|PMID:16338218|PMID:16358218|PMID:16377799|PMID:16638574|PMID:17020470|PMID:17339163|PMID:17361219|PMID:17935252|PMID:17972951|PMID:18372317|PMID:18373317|PMID:18759865|PMID:18849586|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19737548|PMID:19825837|PMID:19864201|PMID:20301557|PMID:20308328|PMID:20493809|PMID:20535210|PMID:20883402|PMID:21365175|PMID:21533187|PMID:21706501|PMID:21901340|PMID:21910245|PMID:22190897|PMID:22315187|PMID:22411627|PMID:22488759|PMID:22555271|PMID:22585553|PMID:22681964|PMID:23317994|PMID:23457302|PMID:23584145|PMID:23813970|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24628801|PMID:24767283|PMID:24775816|PMID:24935154|PMID:25097206|PMID:25395418|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25741868|PMID:25884655|PMID:25917897|PMID:26337637|PMID:26467025|PMID:26918529|PMID:27069254|PMID:27238887|PMID:27276561|PMID:27484170|PMID:27659786|PMID:28363362|PMID:28492532|PMID:28681392|PMID:29346770|PMID:29493581|PMID:29907801|PMID:30025578|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1240 leukemia ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15273746 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:12930 dilated cardiomyopathy ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18759865|PMID:21934682|PMID:22923420|PMID:24033266|PMID:24803665|PMID:25500235|PMID:25612910|PMID:25741868|PMID:27153395|PMID:28051113|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:13620 patent foramen ovale ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:13832 patent ductus arteriosus ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17697839|PMID:17875892|PMID:17910045|PMID:17927788|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19659470|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19825837|PMID:19835954|PMID:19864201|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21204800|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23832011|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24790373|PMID:24803665|PMID:24820750|PMID:24891296|PMID:24896146|PMID:24935154|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25263441|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25381062|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910|PMID:2564168|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26645620|PMID:26673822|PMID:26742426 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:731746 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: LENTIGINOSIS, CARDIOMYOPATHIC | ClinVar Annotator: match by term: MULTIPLE LENTIGINES SYNDROME | ClinVar Annotator: match by term: Multiple lentigines syndrome | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27959697|PMID:28051113|PMID:28074573|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29038591|PMID:29057136|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30732632|PMID:30784236|PMID:30896080|PMID:31040167|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31637070|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32581362|PMID:32719394|PMID:32746448|PMID:32824488|PMID:32860008|PMID:32901917|PMID:33091040|PMID:33318624|PMID:34006472|PMID:34008892|PMID:35418823|PMID:35885957|PMID:35904599|PMID:35979676|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1588 thrombocytopenia ISO RGD:731746 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:162 cancer ISO RGD:731746 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cancer PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15842656|PMID:15928039|PMID:16830086|PMID:18470943|PMID:18678287|PMID:19047918|PMID:19509418|PMID:21930766|PMID:23825065|PMID:24033266|PMID:25741868|PMID:26619011|PMID:27783593|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1686 glaucoma ISO RGD:3447 D RGD:9068941 20201001 RGD protein:increased expression,increased phosphorylation:retina PMID:30341011|REF_RGD_ID:39456090 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1686 glaucoma ISO RGD:731746 D RGD:9068941 20201001 RGD protein:increased phosphorylation:retina PMID:30341011|REF_RGD_ID:39456090 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1686 glaucoma treatment ISO RGD:3447 D RGD:9068941 20201001 RGD PMID:30341011|REF_RGD_ID:39456090 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1712 aortic valve stenosis ISO RGD:731747 D RGD:9068941 20200609 RGD with Egfr mutation PMID:10700187|REF_RGD_ID:734918 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:1749 squamous cell carcinoma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:206 hereditary multiple exostoses ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21533187 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2213 hemorrhagic disease ISO RGD:731746 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2340 craniosynostosis ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:2602 chondroma ISO RGD:731746 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) PMID:20577567|REF_RGD_ID:11069623 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:299 adenocarcinoma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3069 malignant astrocytoma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3070 high grade glioma ISO RGD:731746 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17942397|PMID:17972951|PMID:18470943|PMID:18559669|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:19798502|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:26619011|PMID:26783207|PMID:27069254|PMID:27276561|PMID:27783593|PMID:28098151|PMID:28492532|PMID:32561839|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3070 high grade glioma ISO RGD:731746 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17942397|PMID:17972951|PMID:18470943|PMID:18559669|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:19798502|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:26783207|PMID:27069254|PMID:27276561|PMID:27783593|PMID:28098151|PMID:28492532|PMID:32561839|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma PMID:26619011|PMID:26822237 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10594032|PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12161596|PMID:12325025|PMID:12529711|PMID:12634870|PMID:12717436|PMID:12739139|PMID:12826400|PMID:12900909|PMID:12960218|PMID:13908956|PMID:14634749|PMID:14644997|PMID:14676626|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15009076|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15273746|PMID:15384080|PMID:15385933|PMID:15389709|PMID:15470362|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15690106|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15725481|PMID:15761018|PMID:15834506|PMID:15842656|PMID:15889278|PMID:15928039|PMID:15929108|PMID:15940693|PMID:15948193|PMID:15951301|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16053901|PMID:16078230|PMID:16115145|PMID:16124853|PMID:16166557|PMID:16263833|PMID:16338218|PMID:1635821|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16461457|PMID:16467864|PMID:16488201|PMID:16498234|PMID:16518851|PMID:16523510|PMID:16533526|PMID:16631468|PMID:16638574|PMID:16643459|PMID:16672235|PMID:16679933|PMID:1672296|PMID:16733669|PMID:16804314|PMID:16830086|PMID:16892325|PMID:16924159|PMID:16987887|PMID:16990350|PMID:17020470|PMID:17052965|PMID:17053061|PMID:17143285|PMID:17177198|PMID:17222357|PMID:17227708|PMID:17339163|PMID:17361219|PMID:17453145|PMID:17497712|PMID:17515436|PMID:17546245|PMID:17576681|PMID:17641779|PMID:17661820|PMID:17875892|PMID:17910045|PMID:17935252|PMID:17972951|PMID:18080325|PMID:18241070|PMID:18253957|PMID:18286234|PMID:18328949|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18378677|PMID:18454468|PMID:18470943|PMID:18505544|PMID:18562489|PMID:18678287|PMID:18701506|PMID:18758896|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19008228|PMID:19017799|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19063751|PMID:19077116|PMID:19120036|PMID:19125092|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19251646|PMID:19260062|PMID:19273734|PMID:19352411|PMID:19449407|PMID:19506109|PMID:19509418|PMID:19568997|PMID:19582499|PMID:19621452|PMID:19706403|PMID:19725129|PMID:19737548|PMID:19768645|PMID:19795160|PMID:19825837|PMID:19835954|PMID:19864201|PMID:19927903|PMID:20030748|PMID:20186801|PMID:20237506|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20383758|PMID:20493809|PMID:20535210|PMID:20543023|PMID:2057894|PMID:20578946|PMID:20651068|PMID:20718194|PMID:20852937|PMID:20883402|PMID:20931536|PMID:20954246|PMID:20979190|PMID:21106241|PMID:21204800|PMID:21248739|PMID:21321969|PMID:21339643|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21526175|PMID:21533187|PMID:21548061|PMID:21567923|PMID:21590266|PMID:21677813|PMID:21680795|PMID:21706501|PMID:21744363|PMID:21747628|PMID:21784453|PMID:21803945|PMID:21901340|PMID:21910226|PMID:21910245|PMID:21930766|PMID:21934682|PMID:22058153|PMID:22097954|PMID:22190897|PMID:22253195|PMID:22315187|PMID:22371576|PMID:22411627|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22528600|PMID:22551697|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:22781091|PMID:22822385|PMID:22847776|PMID:22848035|PMID:22923420|PMID:22959829|PMID:23297836|PMID:23317994|PMID:23321623|PMID:23334668|PMID:23446178|PMID:23457302|PMID:23513489|PMID:23584145|PMID:23624134|PMID:23673659|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23799168|PMID:23813970|PMID:23817572|PMID:23825065|PMID:23832011|PMID:23917401|PMID:23996481|PMID:24030381|PMID:24033266|PMID:24037001|PMID:24039098|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24219368|PMID:24225993|PMID:24401936|PMID:24451042|PMID:24458522|PMID:24628801|PMID:24718990|PMID:24728327|PMID:24754368|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24820750|PMID:24821303|PMID:24891296|PMID:24896146|PMID:24931631|PMID:24935154|PMID:25039348|PMID:25097206|PMID:25156961|PMID:25231023|PMID:25326635|PMID:25326637|PMID:25337068|PMID:25359717|PMID:25383899|PMID:25395418|PMID:25425531|PMID:25500235|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25612910 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3490 Noonan syndrome ISO RGD:731746 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:2564168|PMID:25708222|PMID:25722345|PMID:25724491|PMID:2572450|PMID:25731833|PMID:25741868|PMID:25741869|PMID:25742478|PMID:25804457|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25914815|PMID:25917897|PMID:25937001|PMID:26084119|PMID:26206283|PMID:26242988|PMID:26286251|PMID:26337637|PMID:26372199|PMID:26456833|PMID:26467025|PMID:26495027|PMID:26556299|PMID:26607044|PMID:26619011|PMID:26645620|PMID:26673822|PMID:26742426|PMID:26785492|PMID:26817465|PMID:26822237|PMID:26918529|PMID:27030275|PMID:27038324|PMID:27069254|PMID:27104176|PMID:27117572|PMID:27149842|PMID:27153395|PMID:27193571|PMID:27238887|PMID:27259537|PMID:27276561|PMID:27353043|PMID:27460089|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27626068|PMID:27659786|PMID:27683039|PMID:27783593|PMID:27884971|PMID:27959697|PMID:27993330|PMID:28051113|PMID:28074573|PMID:28084675|PMID:28098151|PMID:28135719|PMID:28191889|PMID:28363362|PMID:28378436|PMID:28483241|PMID:28492532|PMID:28628100|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28921562|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29038591|PMID:29057136|PMID:29084544|PMID:29146883|PMID:29214238|PMID:29263817|PMID:29276006|PMID:29346770|PMID:29493581|PMID:29517769|PMID:29555671|PMID:29602897|PMID:29703613|PMID:29848529|PMID:29907801|PMID:29988639|PMID:30025578|PMID:30050098|PMID:30055033|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30375388|PMID:30410095|PMID:30417923|PMID:30455982|PMID:30515541|PMID:30541462|PMID:30602027|PMID:30604644|PMID:30692697|PMID:30693642|PMID:30732632|PMID:30784236|PMID:30868567|PMID:30896080|PMID:31040167|PMID:31057598|PMID:31064749|PMID:31219622|PMID:31259454|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31637070|PMID:32059087|PMID:32112654|PMID:32164556|PMID:32233106|PMID:32371413|PMID:32410215|PMID:32561839|PMID:32581362|PMID:32719394|PMID:32737134|PMID:32746448|PMID:32786180|PMID:32794475|PMID:32824488|PMID:32832832|PMID:32860008|PMID:32901917|PMID:32963807|PMID:33091040|PMID:33128510|PMID:33318624|PMID:33568805|PMID:33619735|PMID:33726816|PMID:34006472|PMID:34008892|PMID:34136434|PMID:34143244|PMID:34589056|PMID:34782754|PMID:35418823|PMID:35616356|PMID:35885957|PMID:35904599|PMID:35979676|PMID:4746100|PMID:9491886|PMID:9536098|PMID:9751050 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3717 gastric adenocarcinoma ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:26619011|PMID:26822237 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:731746 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17942397|PMID:17972951|PMID:18470943|PMID:18559669|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:19798502|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:26783207|PMID:26822237|PMID:27069254|PMID:27276561|PMID:27783593|PMID:28098151|PMID:28492532|PMID:32561839|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:3910 lung adenocarcinoma ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:26619011|PMID:26822237 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4080 tricuspid valve insufficiency ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: tricuspid valve insufficiency PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4362 cervical cancer ISO RGD:731746 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:4624 Ollier disease ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20577567|PMID:21533187 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:540 strabismus ISO RGD:731746 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Strabismus PMID:15985475|PMID:17020470|PMID:17546245|PMID:18470943|PMID:19077116|PMID:20186801|PMID:21590266|PMID:22465605|PMID:22781091|PMID:23624134|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29493581 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia PMID:11992261|PMID:12161469|PMID:15240615|PMID:16358218|PMID:17020470|PMID:17339163|PMID:18470943|PMID:18678287|PMID:19020799|PMID:21106241|PMID:21784453|PMID:22681964|PMID:23321623|PMID:24033266|PMID:24183200|PMID:25741868|PMID:27030275|PMID:28492532|PMID:30732632|PMID:30896080 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:5688 Werner syndrome ISO RGD:731746 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:25741868 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:630 genetic disease ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11704759|PMID:11992261|PMID:12058348|PMID:12161469|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14644997|PMID:14961557|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15121796|PMID:15240615|PMID:15248152|PMID:15385933|PMID:15520399|PMID:15539800|PMID:15604238|PMID:15689434|PMID:15710330|PMID:15712196|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15929108|PMID:15956085|PMID:15985475|PMID:15987685|PMID:15996221|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16338218|PMID:16358218|PMID:16369799|PMID:16377799|PMID:16399795|PMID:16498234|PMID:16523510|PMID:16638574|PMID:16672235|PMID:16924159|PMID:16990350|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17361219|PMID:17515436|PMID:17546245|PMID:17661820|PMID:17875892|PMID:17935252|PMID:17972951|PMID:18241070|PMID:18253957|PMID:18331608|PMID:18372317|PMID:18373317|PMID:18470943|PMID:18562489|PMID:18678287|PMID:18759865|PMID:18849586|PMID:18854871|PMID:19020799|PMID:19047918|PMID:19054014|PMID:19061217|PMID:19077116|PMID:19120036|PMID:19133693|PMID:19174044|PMID:19179468|PMID:19352411|PMID:19509418|PMID:19737548|PMID:19795160|PMID:19825837|PMID:19864201|PMID:20112233|PMID:20301303|PMID:20301557|PMID:20308328|PMID:20493809|PMID:20535210|PMID:20883402|PMID:20954246|PMID:20979190|PMID:21340158|PMID:21365175|PMID:21365683|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:21706501|PMID:21784453|PMID:21901340|PMID:21910245|PMID:22190897|PMID:22315187|PMID:22411627|PMID:22465605|PMID:22488759|PMID:22555271|PMID:22585553|PMID:22681964|PMID:22711529|PMID:23297836|PMID:23317994|PMID:23457302|PMID:23584145|PMID:23726368|PMID:23756559|PMID:23771920|PMID:23813970|PMID:24033266|PMID:24037001|PMID:24072241|PMID:24150203|PMID:24183200|PMID:24451042|PMID:24628801|PMID:24767283|PMID:24775816|PMID:24803665|PMID:24891296|PMID:24935154|PMID:25097206|PMID:25326637|PMID:25395418|PMID:25533962|PMID:25544017|PMID:25585602|PMID:25595571|PMID:25741868|PMID:25862627|PMID:25884655|PMID:25912702|PMID:25917897|PMID:26337637|PMID:26372199|PMID:26467025|PMID:26607044|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27069254|PMID:27117572|PMID:27238887|PMID:27276561|PMID:27353043|PMID:27484170|PMID:27521173|PMID:27562378|PMID:27659786|PMID:28074573|PMID:28135719|PMID:28363362|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28681392|PMID:28748642|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29346770|PMID:29493581|PMID:29555671|PMID:29696744|PMID:29848529|PMID:29907801|PMID:30025578|PMID:30287924|PMID:30294303|PMID:30311386|PMID:30325180|PMID:30355600|PMID:30410095|PMID:30417923|PMID:30602027|PMID:30604644|PMID:30732632|PMID:30784236|PMID:31064749|PMID:31219622|PMID:31370276|PMID:31560489|PMID:31573083|PMID:31637070|PMID:32164556|PMID:32233106|PMID:32581362|PMID:32719394|PMID:32746448|PMID:32824488|PMID:32860008|PMID:33091040|PMID:33318624|PMID:33726816|PMID:34006472|PMID:34008892|PMID:34136434|PMID:35979676|PMID:4746100|PMID:9491886 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:731746 D RGD:9068941 20200609 RGD DNA:snp:intron:c.757-4333A>G (rs11066320) (human) PMID:22503907|REF_RGD_ID:12743641 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:6536 plasma cell neoplasm ISO RGD:731746 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17942397|PMID:17972951|PMID:18470943|PMID:18559669|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:19798502|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:26783207|PMID:26822237|PMID:27069254|PMID:27276561|PMID:27783593|PMID:28098151|PMID:28492532|PMID:32561839|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:769 neuroblastoma ISO RGD:731746 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:11704759|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17942397|PMID:17972951|PMID:18470943|PMID:18559669|PMID:18678287|PMID:18759865|PMID:19047918|PMID:19179468|PMID:19509418|PMID:19798502|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:26783207|PMID:26918529|PMID:27069254|PMID:27276561|PMID:27783593|PMID:28074573|PMID:28098151|PMID:28492532|PMID:30868567|PMID:30896080|PMID:32561839|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8469 influenza ISO RGD:731747 D RGD:9068941 20201001 RGD mRNA:increased expression:lung PMID:31782850|REF_RGD_ID:39131288 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8927 learning disability ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis severity ISO RGD:731746 D RGD:9068941 20201001 RGD associated with Helicobacter Infections;DNA:SNP:intron: rs2301756(human) PMID:19589142|REF_RGD_ID:39128247 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:9068941 20200925 RGD associated with Helicobacter Infections; DNA:SNP:Cds: PMID:17211494|REF_RGD_ID:39128202 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:9068941 20201001 RGD DNA:SNP:intron:rs2301756 (human) PMID:18712962|REF_RGD_ID:39131286 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:8929 atrophic gastritis susceptibility ISO RGD:731746 D RGD:9068941 20201001 RGD associated with Helicobacter Infections; DNA:SNP: :rs12423190 (human PMID:22788847|REF_RGD_ID:39131289 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:731747 D RGD:9068941 20201001 RGD mRNA:increased expression:lung PMID:31782850|REF_RGD_ID:39131288 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001049 Staphylococcal Pneumonia severity ISO RGD:731747 D RGD:9068941 20201001 RGD associated with influenza PMID:31782850|REF_RGD_ID:39131288 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001276 Failure to Thrive ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9001510 Funnel Chest ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:731746 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12161469|PMID:12717436|PMID:14644997|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15928039|PMID:16358218|PMID:17177198|PMID:17972951|PMID:18759865|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27069254|PMID:28074573|PMID:28098151|PMID:28492532|PMID:30868567|PMID:30896080 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:3447 D RGD:9068941 20200609 RGD with postnatal growth restriction PMID:19491300|REF_RGD_ID:12743586 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:11992261|PMID:15121796|PMID:17339163|PMID:17875892|PMID:18241070|PMID:20301557|PMID:21533187|PMID:24033266|PMID:24935154|PMID:25741868|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16990350|PMID:17020470|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:19008228|PMID:19047918|PMID:19179468|PMID:19251646|PMID:19795160|PMID:19835954|PMID:20651068|PMID:21365683|PMID:22371576|PMID:22420426|PMID:23321623|PMID:24033266|PMID:24628801|PMID:24718990|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27069254|PMID:27276561|PMID:28492532|PMID:30325180|PMID:33726816 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia PMID:11992261|PMID:12058348|PMID:12161596|PMID:14634749|PMID:15121796|PMID:15389709|PMID:15520399|PMID:16053901|PMID:16358218|PMID:16377799|PMID:16638574|PMID:16679933|PMID:17020470|PMID:18372317|PMID:18849586|PMID:19725129|PMID:19768645|PMID:20301557|PMID:20308328|PMID:21339643|PMID:21747628|PMID:22681964|PMID:22822385|PMID:23673659|PMID:24033266|PMID:24401936|PMID:24775816|PMID:24820750|PMID:24935154|PMID:25731833|PMID:25741868|PMID:25917897|PMID:26337637|PMID:26467025|PMID:26918529|PMID:28483241|PMID:28492532|PMID:29276006|PMID:30311386 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9003091 Noonan Like Syndrome ISO RGD:731746 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.D106A, p.F285L (human) PMID:15996221|REF_RGD_ID:11064737 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9003571 Paraproteinemias ISO RGD:731746 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17942397|PMID:17972951|PMID:18470943|PMID:18559669|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:19798502|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:26783207|PMID:26822237|PMID:27069254|PMID:27276561|PMID:27783593|PMID:28098151|PMID:28492532|PMID:32561839|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731746 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11704759|PMID:11992261|PMID:12634870|PMID:12717436|PMID:12960218|PMID:14974085|PMID:14982869|PMID:15001945|PMID:15723289|PMID:15834506|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:16377799|PMID:18372317|PMID:18470943|PMID:18758896|PMID:19077116|PMID:19568997|PMID:19737548|PMID:20186801|PMID:21407260|PMID:21784453|PMID:22465605|PMID:22488759|PMID:22681964|PMID:23334668|PMID:24033266|PMID:24037001|PMID:24183200|PMID:24754368|PMID:25097206|PMID:25741868|PMID:25742478|PMID:26817465|PMID:26918529|PMID:28492532|PMID:28748642|PMID:29146883|PMID:29907801|PMID:30417923|PMID:31560489|PMID:31573083|PMID:34008892|PMID:35979676|PMID:9491886 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9004441 Experimental Leukemia ISO RGD:731746 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9005141 Ventricular Tachycardia ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9005193 Osteochondroma ISO RGD:731746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20577567 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Right ventricular hypertrophy PMID:11992261|PMID:12325025|PMID:12634870|PMID:12717436|PMID:12960218|PMID:15001945|PMID:15240615|PMID:15604238|PMID:15928039|PMID:15985475|PMID:16263833|PMID:16358218|PMID:17020470|PMID:19020799|PMID:19352411|PMID:21407260|PMID:21533187|PMID:22465605|PMID:22711529|PMID:24033266|PMID:24803665|PMID:24935154|PMID:25533962|PMID:25741868|PMID:26817465|PMID:28492532|PMID:29555671|PMID:29907801|PMID:31560489|PMID:32164556 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3447 D RGD:9068941 20201001 RGD protein:increased expression:aorta tunica intima, aorta tunica media PMID:12117720|REF_RGD_ID:39456082 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:731746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23334666|PMID:25741868|PMID:26223499|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24628801|PMID:24803665|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26785492|PMID:26817465|PMID:27117572|PMID:27521173|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:29493581|PMID:30604644|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731746 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:12960218|PMID:13908956|PMID:14974085|PMID:15001945|PMID:15240615|PMID:15248152|PMID:15539800|PMID:15723289|PMID:15834506|PMID:15929108|PMID:15956085|PMID:15987685|PMID:16078230|PMID:16124853|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16399795|PMID:16498234|PMID:17020470|PMID:17143285|PMID:17339163|PMID:17515436|PMID:17546245|PMID:17661820|PMID:18253957|PMID:18331608|PMID:19061217|PMID:19077116|PMID:19133693|PMID:19352411|PMID:19509418|PMID:20301303|PMID:20308328|PMID:20979190|PMID:21340158|PMID:21407260|PMID:21533187|PMID:21567923|PMID:21590266|PMID:22190897|PMID:22465605|PMID:23297836|PMID:23726368|PMID:24033266|PMID:24072241|PMID:24628801|PMID:24803665|PMID:24935154|PMID:25326637|PMID:25741868|PMID:25912702|PMID:26372199|PMID:26467025|PMID:26645620|PMID:26785492|PMID:26817465|PMID:26918529|PMID:27117572|PMID:27521173|PMID:28135719|PMID:28483241|PMID:28492532|PMID:28650561|PMID:28957739|PMID:28991257|PMID:29214238|PMID:29263817|PMID:29493581|PMID:29848529|PMID:29907801|PMID:30287924|PMID:30294303|PMID:30355600|PMID:30417923|PMID:30604644|PMID:31219622|PMID:31560489|PMID:31637070|PMID:32164556|PMID:32581362|PMID:32860008|PMID:33091040|PMID:34008892|PMID:4746100 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007502 Brain Neoplasms ISO RGD:731746 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:12161469|PMID:12717436|PMID:14644997|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15928039|PMID:16358218|PMID:17177198|PMID:17972951|PMID:18759865|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27069254|PMID:28074573|PMID:28098151|PMID:28492532|PMID:30868567|PMID:30896080 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9007661 Dwarfism ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Short stature PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15985475|PMID:15987685|PMID:16263833|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16990350|PMID:17020470|PMID:17546245|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:19008228|PMID:19047918|PMID:19077116|PMID:19179468|PMID:19251646|PMID:19795160|PMID:19835954|PMID:20186801|PMID:20651068|PMID:21365683|PMID:21590266|PMID:22371576|PMID:22420426|PMID:22465605|PMID:22781091|PMID:23321623|PMID:23624134|PMID:24033266|PMID:24628801|PMID:24718990|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27069254|PMID:27276561|PMID:28492532|PMID:29493581|PMID:30325180|PMID:33726816 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008086 Developmental Disabilities ISO RGD:731746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11992261|PMID:14644997|PMID:15539800|PMID:15723289|PMID:15987685|PMID:16358218|PMID:17020470|PMID:17339163|PMID:17361219|PMID:18372317|PMID:19020799|PMID:19737548|PMID:20308328|PMID:21706501|PMID:21901340|PMID:22315187|PMID:22488759|PMID:23584145|PMID:24033266|PMID:24628801|PMID:25585602|PMID:25595571|PMID:25741868|PMID:26467025|PMID:26918529|PMID:28363362|PMID:28492532|PMID:29907801|PMID:30311386|PMID:30410095|PMID:30417923|PMID:31219622|PMID:31560489|PMID:32164556|PMID:32581362 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:731746 D RGD:9068941 20201001 RGD DNA:SNP:intron: rs2301756(human) PMID:19589142|REF_RGD_ID:39128247 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008386 Hydrops Fetalis ISO RGD:731746 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:11704759|PMID:11992261|PMID:12161469|PMID:12634870|PMID:14644997|PMID:14676626|PMID:15240615|PMID:15273746|PMID:15385933|PMID:15710330|PMID:15928039|PMID:15987685|PMID:16358218|PMID:16377799|PMID:16461457|PMID:16533526|PMID:16990350|PMID:17020470|PMID:17339163|PMID:17972951|PMID:18331608|PMID:18378677|PMID:18470943|PMID:18562489|PMID:18678287|PMID:19008228|PMID:19020799|PMID:19047918|PMID:19179468|PMID:19251646|PMID:19835954|PMID:20651068|PMID:21106241|PMID:21365683|PMID:21784453|PMID:22371576|PMID:22420426|PMID:22681964|PMID:23321623|PMID:24033266|PMID:24183200|PMID:24628801|PMID:24718990|PMID:25097206|PMID:25383899|PMID:25395418|PMID:25741868|PMID:26084119|PMID:26242988|PMID:26673822|PMID:27030275|PMID:27069254|PMID:27276561|PMID:28492532|PMID:30732632|PMID:30896080 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731746 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17942397|PMID:17972951|PMID:18470943|PMID:18559669|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:19798502|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:26783207|PMID:26822237|PMID:27069254|PMID:27276561|PMID:27783593|PMID:28098151|PMID:28492532|PMID:32561839|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9119 acute myeloid leukemia ISO RGD:731746 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:12161469|PMID:12717436|PMID:14644997|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15928039|PMID:16358218|PMID:17177198|PMID:17972951|PMID:18759865|PMID:19047918|PMID:19179468|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27069254|PMID:28074573|PMID:28098151|PMID:28492532|PMID:30868567|PMID:30896080 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:9538 multiple myeloma ISO RGD:731746 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11704759|PMID:12634870|PMID:12717436|PMID:14644997|PMID:14974085|PMID:14982869|PMID:15385933|PMID:15710330|PMID:15834506|PMID:15842656|PMID:15928039|PMID:16358218|PMID:16518851|PMID:16830086|PMID:17177198|PMID:17942397|PMID:17972951|PMID:18470943|PMID:18559669|PMID:18678287|PMID:19047918|PMID:19179468|PMID:19509418|PMID:19798502|PMID:21901340|PMID:21930766|PMID:22190897|PMID:23756559|PMID:23825065|PMID:23832011|PMID:24033266|PMID:25097206|PMID:25395418|PMID:25741868|PMID:26619011|PMID:26783207|PMID:26822237|PMID:27069254|PMID:27276561|PMID:27783593|PMID:28098151|PMID:28492532|PMID:32561839|PMID:36349709 8703700 Ptpn11 protein tyrosine phosphatase non-receptor type 11 gene DOID:962 neurofibroma ISO RGD:731746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurofibroma PMID:17052965|PMID:21548061|PMID:24033266|PMID:24451042|PMID:24803665|PMID:25741868|PMID:26556299|PMID:28492532 8703700 Ptpn11 protein tyrosine phosphatase, non-receptor type 11 gene DOID:9000109 Haemophilus Infections ISO RGD:731747 D RGD:9068941 20201001 RGD mRNA, protein:increased expression:macrophage, lung: PMID:27330052|REF_RGD_ID:39131287 8703728 Rrbp1 ribosome binding protein 1 gene DOID:630 genetic disease ISO RGD:1315209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703756 Bche butyrylcholinesterase gene DOID:0050655 Bamforth-Lazarus syndrome ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16884476 8703756 Bche butyrylcholinesterase gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:20122907|REF_RGD_ID:5687690 8703756 Bche butyrylcholinesterase gene DOID:0050847 sleep apnea ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18555211 8703756 Bche butyrylcholinesterase gene DOID:0060041 autism spectrum disorder ISO RGD:732174 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8703756 Bche butyrylcholinesterase gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:732175 D RGD:9068941 20200609 RGD PMID:12383920|REF_RGD_ID:5688132 8703756 Bche butyrylcholinesterase gene DOID:10113 trypanosomiasis ISO RGD:619996 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20138875|REF_RGD_ID:5687328 8703756 Bche butyrylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23022600 8703756 Bche butyrylcholinesterase gene DOID:10652 Alzheimer's disease ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:22012848|REF_RGD_ID:5687327 8703756 Bche butyrylcholinesterase gene DOID:10652 Alzheimer's disease severity ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:16973370|REF_RGD_ID:5688056 8703756 Bche butyrylcholinesterase gene DOID:10763 hypertension ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:12387587|REF_RGD_ID:1601322 8703756 Bche butyrylcholinesterase gene DOID:10914 amnestic disorder ISO RGD:619996 D RGD:9068941 20200609 RGD PMID:21771623|REF_RGD_ID:5688134 8703756 Bche butyrylcholinesterase gene DOID:1168 familial hyperlipidemia ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15219807|REF_RGD_ID:1601321 8703756 Bche butyrylcholinesterase gene DOID:12858 Huntington's disease ISO RGD:732174 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 8703756 Bche butyrylcholinesterase gene DOID:1307 dementia ISO RGD:732174 D RGD:9068941 20200609 RGD associated with Parkinson Disease;protein:increased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 8703756 Bche butyrylcholinesterase gene DOID:13548 secondary Parkinson disease ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30410011 8703756 Bche butyrylcholinesterase gene DOID:1561 cognitive disorder ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12003252|PMID:20513442 8703756 Bche butyrylcholinesterase gene DOID:1826 epilepsy ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:7634486|REF_RGD_ID:5688133 8703756 Bche butyrylcholinesterase gene DOID:2297 leptospirosis ISO RGD:619996 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21921108|REF_RGD_ID:5688128 8703756 Bche butyrylcholinesterase gene DOID:2377 multiple sclerosis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20122907 8703756 Bche butyrylcholinesterase gene DOID:3068 glioblastoma ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2317787 8703756 Bche butyrylcholinesterase gene DOID:3393 coronary artery disease susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:17852836|REF_RGD_ID:2306777 8703756 Bche butyrylcholinesterase gene DOID:3602 toxic encephalopathy ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21620937 8703756 Bche butyrylcholinesterase gene DOID:4247 coronary restenosis susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:17275003|REF_RGD_ID:2306778 8703756 Bche butyrylcholinesterase gene DOID:4450 renal cell carcinoma ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18482720 8703756 Bche butyrylcholinesterase gene DOID:5419 schizophrenia ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22123563|REF_RGD_ID:5687326 8703756 Bche butyrylcholinesterase gene DOID:543 dystonia ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 8703756 Bche butyrylcholinesterase gene DOID:630 genetic disease ISO RGD:732174 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8703756 Bche butyrylcholinesterase gene DOID:655 inherited metabolic disorder susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD butyrylcholinesterase deficiency;DNA:missense mutation: :p.A199V PMID:9694584|REF_RGD_ID:1601328 8703756 Bche butyrylcholinesterase gene DOID:769 neuroblastoma ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2317787 8703756 Bche butyrylcholinesterase gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15121994 8703756 Bche butyrylcholinesterase gene DOID:809 cocaine abuse severity ISO RGD:732175 D RGD:9068941 20240201 RGD PMID:21540357|REF_RGD_ID:401960084 8703756 Bche butyrylcholinesterase gene DOID:9000046 Poisoning ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20176007|PMID:20513442|PMID:21620937|PMID:21683774|PMID:29183815 8703756 Bche butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency ISO RGD:732174 D RGD:8554872 20230919 ClinVar ClinVar Annotator: match by term: BCHE, H variant | ClinVar Annotator: match by term: BCHE, J variant | ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase | ClinVar Annotator: match by term: Postanesthetic apnea | ClinVar Annotator: match by term: Pseudocholinesterase E1 deficiency | ClinVar Annotator: match by term: Pseudocholinesterase deficiency PMID:10190327|PMID:10404729|PMID:10446378|PMID:10699053|PMID:11163024|PMID:11575530|PMID:11733654|PMID:12417112|PMID:1271425|PMID:12724618|PMID:12881446|PMID:1306123|PMID:13437188|PMID:13479831|PMID:1349196|PMID:13711731|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:15781196|PMID:1611188|PMID:16434405|PMID:1662391|PMID:16788378|PMID:17166756|PMID:17700357|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:20589221|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:22750491|PMID:23123771|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25525159|PMID:25741868|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:3169798|PMID:31980526|PMID:33024248|PMID:3542989|PMID:416211|PMID:6716425|PMID:7618741|PMID:7634491|PMID:8314794|PMID:8554068|PMID:8601326|PMID:8680411|PMID:9047329|PMID:9058093|PMID:9110359|PMID:9187502|PMID:9191541|PMID:9302273|PMID:9388484|PMID:9543549 8703756 Bche butyrylcholinesterase gene DOID:9000441 Butyrylcholinesterase Deficiency susceptibility ISO RGD:732174 D RGD:7240710 20240207 OMIM 8703756 Bche butyrylcholinesterase gene DOID:9000459 Acholinesterasemia ISO RGD:732174 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acholinesterasemia PMID:10190327|PMID:10404729|PMID:10446378|PMID:10699053|PMID:11163024|PMID:11575530|PMID:11733654|PMID:12417112|PMID:12724618|PMID:12881446|PMID:13437188|PMID:13479831|PMID:1349196|PMID:13711731|PMID:1415224|PMID:14404182|PMID:15563885|PMID:15731589|PMID:15781196|PMID:1611188|PMID:16434405|PMID:1662391|PMID:16788378|PMID:17166756|PMID:17700357|PMID:18075469|PMID:18165570|PMID:18300943|PMID:18555211|PMID:2013061|PMID:20589221|PMID:20879632|PMID:21029050|PMID:21228368|PMID:21637541|PMID:22053728|PMID:22378569|PMID:2253336|PMID:22750491|PMID:23123771|PMID:24033266|PMID:25054547|PMID:25264279|PMID:25448037|PMID:25525159|PMID:25741868|PMID:27031121|PMID:27109752|PMID:27551784|PMID:28492532|PMID:2915989|PMID:31980526|PMID:33024248|PMID:3542989|PMID:416211|PMID:6716425|PMID:7618741|PMID:7634491|PMID:8314794|PMID:8554068|PMID:8601326|PMID:8680411|PMID:9047329|PMID:9058093|PMID:9110359|PMID:9187502|PMID:9191541|PMID:9302273|PMID:9388484|PMID:9543549 8703756 Bche butyrylcholinesterase gene DOID:9000543 Death ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18597747 8703756 Bche butyrylcholinesterase gene DOID:9000790 Postoperative Complications ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6039104 8703756 Bche butyrylcholinesterase gene DOID:9001745 Fasciculation ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6465587 8703756 Bche butyrylcholinesterase gene DOID:9002079 Paresis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2249680 8703756 Bche butyrylcholinesterase gene DOID:9002362 Hyperkinesis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12019200 8703756 Bche butyrylcholinesterase gene DOID:9002371 Cardiotoxicity ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26145887 8703756 Bche butyrylcholinesterase gene DOID:9002554 Tachycardia ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18597747 8703756 Bche butyrylcholinesterase gene DOID:9004802 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type ISO RGD:732174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type PMID:10404729|PMID:12417112|PMID:8680411|PMID:9191541|PMID:9388484 8703756 Bche butyrylcholinesterase gene DOID:9004992 Apnea ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1058931|PMID:12392308|PMID:12881446|PMID:15826794|PMID:1734774|PMID:21029050|PMID:25054547|PMID:38703|PMID:4319258|PMID:4347326|PMID:4698763|PMID:4728581|PMID:4746059|PMID:4850696|PMID:4959505|PMID:4998912|PMID:5365519|PMID:5412891|PMID:5488351|PMID:5667302|PMID:6039104|PMID:6465587|PMID:6859614|PMID:6928942|PMID:7069741|PMID:726855|PMID:7378868|PMID:7788839|PMID:7793179|PMID:900467|PMID:987736 8703756 Bche butyrylcholinesterase gene DOID:9005246 Paralysis ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1218179|PMID:122883|PMID:1734774|PMID:21228368|PMID:4319258|PMID:4347326|PMID:4362560|PMID:4728581|PMID:5021954|PMID:910611 8703756 Bche butyrylcholinesterase gene DOID:9005292 Organophosphate Poisoning ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22981459|PMID:22982776|PMID:23044488|PMID:23123253|PMID:23178380|PMID:23220586|PMID:26239905|PMID:31201777 8703756 Bche butyrylcholinesterase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18292872|PMID:18514640|PMID:20060817|PMID:20971807|PMID:22935511|PMID:22960160|PMID:23000451|PMID:25814464 8703756 Bche butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619996 D RGD:9068941 20200609 RGD PMID:12379509|PMID:16187484|REF_RGD_ID:1599458|REF_RGD_ID:2306781 8703756 Bche butyrylcholinesterase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619996 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:11478742|REF_RGD_ID:2306783 8703756 Bche butyrylcholinesterase gene DOID:9005832 Amyloid Plaques ISO RGD:732175 D RGD:9068941 20200609 RGD PMID:22157615|REF_RGD_ID:5687325 8703756 Bche butyrylcholinesterase gene DOID:9005930 Endotoxemia ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:17657467|REF_RGD_ID:5688055 8703756 Bche butyrylcholinesterase gene DOID:9006588 Trismus ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7378868 8703756 Bche butyrylcholinesterase gene DOID:9006599 Hypertriglyceridemia ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23000450 8703756 Bche butyrylcholinesterase gene DOID:9006599 Hypertriglyceridemia ISO RGD:732174 D RGD:9068941 20200609 RGD associated with diabetes mellitus PMID:8149699|REF_RGD_ID:1601335 8703756 Bche butyrylcholinesterase gene DOID:9006646 Metabolic Syndrome ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15907830|REF_RGD_ID:1601317 8703756 Bche butyrylcholinesterase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3111302 8703756 Bche butyrylcholinesterase gene DOID:9007096 Stroke ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20464061|REF_RGD_ID:5688131 8703756 Bche butyrylcholinesterase gene DOID:9007692 Insulin Resistance ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:17917325|REF_RGD_ID:2306776 8703756 Bche butyrylcholinesterase gene DOID:9008939 Breast Neoplasms ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 8703756 Bche butyrylcholinesterase gene DOID:9279 hyperhomocysteinemia ISO RGD:619996 D RGD:9068941 20200609 RGD Protein:increased expression:serum PMID:16442260|REF_RGD_ID:1599454 8703756 Bche butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732174 D RGD:9068941 20200609 RGD PMID:16442234|REF_RGD_ID:2306780 8703756 Bche butyrylcholinesterase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:11793025|REF_RGD_ID:2306782 8703756 Bche butyrylcholinesterase gene DOID:9470 bacterial meningitis ISO RGD:732174 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:21303225|REF_RGD_ID:5688130 8703756 Bche butyrylcholinesterase gene DOID:9505 cannabis abuse ISO RGD:732174 D RGD:9068941 20240201 RGD protein:increased activity:blood plasma (human) PMID:30707402|REF_RGD_ID:401960085 8703756 Bche butyrylcholinesterase gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:732174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A539T (human) PMID:17026497|REF_RGD_ID:2306779 8703756 Bche butyrylcholinesterase gene DOID:9884 muscular dystrophy ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 8703756 Bche butyrylcholinesterase gene DOID:9970 obesity ISO RGD:732174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18452903|PMID:23000450|PMID:23073171|PMID:27163854 8703756 Bche butyrylcholinesterase gene DOID:9976 heroin dependence ISO RGD:732174 D RGD:9068941 20240201 RGD protein:increased activity:blood plasma (human) PMID:30707402|REF_RGD_ID:401960085 8703794 Shisa8 shisa family member 8 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8703794 Shisa8 shisa family member 8 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1345156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8703794 Shisa8 shisa family member 8 gene DOID:630 genetic disease ISO RGD:1345156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703803 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:737247 D RGD:9068941 20220825 MouseDO OMIM:263200 8703803 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:0112140 retinitis pigmentosa 83 ISO RGD:734227 D RGD:7240710 20190315 OMIM 8703803 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:0112140 retinitis pigmentosa 83 ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 83 PMID:25741868|PMID:26964041|PMID:28492532|PMID:30932721 8703803 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:734227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:33748123 8703803 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 8703803 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:630 genetic disease ISO RGD:734227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8703803 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:9001060 JOUBERT SYNDROME 35 ISO RGD:734227 D RGD:7240710 20190315 OMIM 8703803 Arl3 ADP ribosylation factor like GTPase 3 gene DOID:9001060 JOUBERT SYNDROME 35 ISO RGD:734227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 35 PMID:25741868|PMID:28492532|PMID:30269812 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0050581 brachydactyly ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:22374147|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0080006 bone development disease ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805157 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type PMID:29322508 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0081237 acromesomelic dysplasia-3 ISO RGD:1354405 D RGD:7240710 20180130 OMIM 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0081237 acromesomelic dysplasia-3 ISO RGD:1354405 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES PMID:15805157|PMID:22374147|PMID:24129431|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532|PMID:35034853 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0110965 brachydactyly type A2 ISO RGD:1354405 D RGD:7240710 20180130 OMIM 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0110965 brachydactyly type A2 ISO RGD:1354405 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brachydactyly type A2 | ClinVar Annotator: match by term: Mohr-Wriedt type brachydactyly PMID:14523231|PMID:15805157|PMID:16199547|PMID:16957682|PMID:17576681|PMID:22374147|PMID:24129431|PMID:25741868|PMID:25758993|PMID:26105076|PMID:28492532|PMID:31769494|PMID:35034853|PMID:9536098 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0110978 brachydactyly type A1D ISO RGD:1354405 D RGD:7240710 20190315 OMIM 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:0110978 brachydactyly type A1D ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type A1D PMID:25758993 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:14557 primary pulmonary hypertension ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension PMID:22374147|PMID:25741868|PMID:25758993|PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:2256 osteochondrodysplasia ISO RGD:1354405 D RGD:9068941 20200609 RGD acromesomelic chondrodysplasia and genital anomalies, OMIM:609441, DNA:deletion:exon PMID:15805157|REF_RGD_ID:1600593 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:2841 asthma ISO RGD:1354405 D RGD:9068941 20200609 RGD protein:decreased expression:bronchus PMID:18292470|REF_RGD_ID:5129470 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:5426 primary ovarian insufficiency ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:630 genetic disease ISO RGD:1354405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:6432 pulmonary hypertension ISO RGD:1354405 D RGD:9068941 20200609 RGD PMID:19324947|REF_RGD_ID:5129472 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:30029678 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9006294 Congenital Limb Deformities ISO RGD:1354405 D RGD:9068941 20200609 RGD type A2 brachydactyly, OMIM:112600; type C brachydactyly, OMIM:113100, with symphalangism, DNA:point mutations:exon:R486W; R486Q PMID:14523231|REF_RGD_ID:1334470 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9007888 Primary Pulmonary Hypertension, 3 ISO RGD:1354405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 PMID:25741868|PMID:28492532 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9008296 Eye Abnormalities ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 8703813 Bmpr1b bone morphogenetic protein receptor type 1B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1354405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:0080074 neural tube defect ISO RGD:68616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:13938 amenorrhea ISO RGD:68616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:14566 disease of cellular proliferation ISO RGD:68616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21455586 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:1520 colon carcinoma ISO RGD:68616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10649492 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:630 genetic disease ISO RGD:68616 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28106320|PMID:28492532 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9000217 Stomach Neoplasms ISO RGD:68616 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26401016 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9002762 Ovarian Neoplasms ISO RGD:68616 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15674352 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:68616 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:7240710 20200226 OMIM 8703873 Dlc1 DLC1 Rho GTPase activating protein gene DOID:9256 colorectal cancer ISO RGD:68616 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition PMID:25741868|PMID:28492532 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse PMID:29934816 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1602872 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:1826 epilepsy ISO RGD:1602872 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8703913 Col20a1 collagen type XX alpha 1 chain gene DOID:630 genetic disease ISO RGD:1602872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1320780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1320780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:630 genetic disease ISO RGD:1320780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:8778 Crohn's disease ISO RGD:1320780 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1320780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8703970 Sdf2l1 stromal cell derived factor 2 like 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1585844 D RGD:9068941 20200609 RGD DNA:deletion:exons, introns:g.3_910del (rat) PMID:27463508|REF_RGD_ID:11528530 8703978 Znf658 zinc finger protein 658 gene DOID:37 skin disease ISO RGD:1345425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 8703978 Znf658 zinc finger protein 658 gene DOID:630 genetic disease ISO RGD:1345425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1321254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27150054 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1321254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1321254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1321254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1310380 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve, axon, cytoplasm (rat) PMID:18667152|REF_RGD_ID:9835000 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1321254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8703988 Rangap1 Ran GTPase activating protein 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:1310380 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery, intima (rat) PMID:24988324|REF_RGD_ID:9835414 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:5812 MHC class II deficiency ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:630 genetic disease ISO RGD:1319873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704012 Celf3 CUGBP Elav-like family member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8704051 Nnat neuronatin gene DOID:2234 focal epilepsy ISO RGD:730841 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8704051 Nnat neuronatin gene DOID:3908 lung non-small cell carcinoma ISO RGD:730841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 8704051 Nnat neuronatin gene DOID:630 genetic disease ISO RGD:730841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704051 Nnat neuronatin gene DOID:769 neuroblastoma ISO RGD:730841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17762496 8704051 Nnat neuronatin gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:730841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 8704063 Maged1 MAGE family member D1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8704063 Maged1 MAGE family member D1 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:736331 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 8704063 Maged1 MAGE family member D1 gene DOID:12849 autistic disorder ISO RGD:736331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8704063 Maged1 MAGE family member D1 gene DOID:630 genetic disease ISO RGD:736331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0060336 3-methylglutaconic aciduria ISO RGD:1603908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria PMID:25741868 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1603908 D RGD:7240710 20180130 OMIM 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1603908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V PMID:16055927|PMID:16199547|PMID:17576681|PMID:22797137|PMID:22981120|PMID:25741868|PMID:27426421|PMID:27928778|PMID:28492532|PMID:29625556|PMID:34008892|PMID:9536098 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0110004 3-methylglutaconic aciduria type 3 ISO RGD:1603908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 PMID:16055927|PMID:27928778|PMID:28492532 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0111546 Currarino syndrome ISO RGD:1603908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1603908 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 8704094 Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 gene DOID:630 genetic disease ISO RGD:1603908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:736034 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8704109 Gorasp2 golgi reassembly stacking protein 2 gene DOID:630 genetic disease ISO RGD:736034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704144 Nkapd1 NKAP domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1605379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8704144 Nkapd1 NKAP domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1605379 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8704144 Nkapd1 NKAP domain containing 1 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 8704144 Nkapd1 NKAP domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8704144 Nkapd1 NKAP domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8704144 Nkapd1 NKAP domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8704144 Nkapd1 NKAP domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1605379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8704161 Mamdc4 MAM domain containing 4 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1604980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1604980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8704161 Mamdc4 MAM domain containing 4 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604980 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:3652 Leigh disease ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8704161 Mamdc4 MAM domain containing 4 gene DOID:630 genetic disease ISO RGD:1604980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704161 Mamdc4 MAM domain containing 4 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1604980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8704192 Ca12 carbonic anhydrase 12 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:10666387|REF_RGD_ID:155226866 8704192 Ca12 carbonic anhydrase 12 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:22172588|REF_RGD_ID:153352330 8704192 Ca12 carbonic anhydrase 12 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:27688658|REF_RGD_ID:155226860 8704192 Ca12 carbonic anhydrase 12 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8704192 Ca12 carbonic anhydrase 12 gene DOID:0111371 isolated hyperchlorhidrosis ISO RGD:1315327 D RGD:7240710 20180130 OMIM 8704192 Ca12 carbonic anhydrase 12 gene DOID:0111371 isolated hyperchlorhidrosis ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated hyperchlorhidrosis PMID:21035102|PMID:21184099|PMID:25741868|PMID:26911677|PMID:28492532 8704192 Ca12 carbonic anhydrase 12 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8704192 Ca12 carbonic anhydrase 12 gene DOID:1324 lung cancer ISO RGD:1315327 D RGD:9068941 20220916 RGD protein:increased expression:serum; PMID:22439015|REF_RGD_ID:155226862 8704192 Ca12 carbonic anhydrase 12 gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220915 RGD PMID:35847888|REF_RGD_ID:153352327 8704192 Ca12 carbonic anhydrase 12 gene DOID:2717 Bloom syndrome ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8704192 Ca12 carbonic anhydrase 12 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:26316888|REF_RGD_ID:155226859 8704192 Ca12 carbonic anhydrase 12 gene DOID:3883 Lynch syndrome ISO RGD:1315327 D RGD:9068941 20220916 RGD protein:decreased expression:colorectum PMID:17855694|REF_RGD_ID:155226867 8704192 Ca12 carbonic anhydrase 12 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20220916 RGD PMID:23910904|REF_RGD_ID:155226863 8704192 Ca12 carbonic anhydrase 12 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:20521252|REF_RGD_ID:155226864 8704192 Ca12 carbonic anhydrase 12 gene DOID:5015 fibrolamellar carcinoma ISO RGD:1315327 D RGD:9068941 20220915 RGD mRNA:increased expression:liver PMID:28304380|REF_RGD_ID:153352326 8704192 Ca12 carbonic anhydrase 12 gene DOID:630 genetic disease ISO RGD:1315327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704192 Ca12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma ISO RGD:1315327 D RGD:9068941 20220916 RGD mRNA:altered expression:liver PMID:29900055|REF_RGD_ID:155226869 8704192 Ca12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1315328 D RGD:9068941 20220915 RGD PMID:35362480|REF_RGD_ID:153352325 8704192 Ca12 carbonic anhydrase 12 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220915 RGD PMID:31934040|PMID:35362480|REF_RGD_ID:153352325|REF_RGD_ID:153352328 8704192 Ca12 carbonic anhydrase 12 gene DOID:9005172 Lung Neoplasms ISO RGD:1315327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8704192 Ca12 carbonic anhydrase 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315327 D RGD:9068941 20220915 RGD protein:decreased expression:colorectal mucosa PMID:15849821|REF_RGD_ID:153352324 8704192 Ca12 carbonic anhydrase 12 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1315327 D RGD:9068941 20220916 RGD associated with breast cancer; PMID:29786141|REF_RGD_ID:155226861 8704192 Ca12 carbonic anhydrase 12 gene DOID:9256 colorectal cancer ISO RGD:1315327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8704220 Rpl21 ribosomal protein L21 gene DOID:0110709 hypotrichosis 12 ISO RGD:68568 D RGD:7240710 20180130 OMIM 8704220 Rpl21 ribosomal protein L21 gene DOID:0110709 hypotrichosis 12 ISO RGD:68568 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hypotrichosis 12 PMID:19751230|PMID:21412954 8704220 Rpl21 ribosomal protein L21 gene DOID:4535 hypotrichosis ISO RGD:68568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8704220 Rpl21 ribosomal protein L21 gene DOID:630 genetic disease ISO RGD:68568 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704237 Gprin3 GPRIN family member 3 gene DOID:630 genetic disease ISO RGD:1604710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704237 Gprin3 GPRIN family member 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1604710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8704246 Siglec5 sialic acid binding Ig like lectin 5 gene DOID:630 genetic disease ISO RGD:1313458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704246 Siglec5 sialic acid binding Ig like lectin 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1344325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:3312 bipolar disorder ISO RGD:1344325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1344325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559593 8704248 Ssbp2 single stranded DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8704269 Rnase13 ribonuclease A family member 13 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1344390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8704269 Rnase13 ribonuclease A family member 13 (inactive) gene DOID:630 genetic disease ISO RGD:1344390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704269 Rnase13 ribonuclease A family member 13 (inactive) gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8704283 Clk2 CDC like kinase 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8704283 Clk2 CDC like kinase 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8704283 Clk2 CDC like kinase 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8704283 Clk2 CDC like kinase 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8704283 Clk2 CDC like kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8704283 Clk2 CDC like kinase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8704283 Clk2 CDC like kinase 2 gene DOID:630 genetic disease ISO RGD:1343354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704283 Clk2 CDC like kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0060041 autism spectrum disorder ISO RGD:734188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0060496 respiratory allergy ISO RGD:734188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18441283 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:734188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:0111621 Temtamy syndrome ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:11168 anogenital venereal wart ISO RGD:734188 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:182 calcinosis ISO RGD:734188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:4079 heart valve disease ISO RGD:734188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:4362 cervical cancer ISO RGD:734188 D RGD:9068941 20201001 RGD protein:increased expression:foreskin PMID:18543080|REF_RGD_ID:39128248 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:630 genetic disease ISO RGD:734188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8704307 Ptpn6 protein tyrosine phosphatase non-receptor type 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:734188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8704337 Gipc2 GIPC PDZ domain containing family member 2 gene DOID:630 genetic disease ISO RGD:1603220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704375 Ccar2 cell cycle and apoptosis regulator 2 gene DOID:630 genetic disease ISO RGD:1605357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704375 Ccar2 cell cycle and apoptosis regulator 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:1605357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24252177 8704375 Ccar2 cell cycle and apoptosis regulator 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8704406 Hoxb9 homeobox B9 gene DOID:630 genetic disease ISO RGD:1314613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704406 Hoxb9 homeobox B9 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 8704406 Hoxb9 homeobox B9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 8704406 Hoxb9 homeobox B9 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 8704406 Hoxb9 homeobox B9 gene DOID:9004268 Uterine Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 8704406 Hoxb9 homeobox B9 gene DOID:9008939 Breast Neoplasms ISO RGD:1314613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182052 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0060058 lymphoma ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) PMID:25407497|REF_RGD_ID:153323305 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0060480 left ventricular noncompaction ISO RGD:1322685 D RGD:9068941 20230817 MouseDO OMIM:604169 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1322684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0070529 Sifrim-Hitz-Weiss syndrome ISO RGD:1322684 D RGD:7240710 20190315 OMIM 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0070529 Sifrim-Hitz-Weiss syndrome ISO RGD:1322684 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CHD4-Related Disorder | ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome PMID:25741868|PMID:27616479|PMID:28492532|PMID:31388190|PMID:32881470 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:0111621 Temtamy syndrome ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:12849 autistic disorder ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1324 lung cancer ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) PMID:25407497|REF_RGD_ID:153323305 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1324 lung cancer ameliorates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:lung (human) PMID:30031117|REF_RGD_ID:153323309 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1612 breast cancer ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:breast (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1993 rectum cancer ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS p.D140E (rs7479004) (human) PMID:25407497|REF_RGD_ID:153323305 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:1996 rectum adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:rectum (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1322684 D RGD:9068941 20220811 RGD human cells in a mouse model PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:decreased expression:prostate gland (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:2876 laryngeal squamous cell carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:larynx (human) PMID:33315534|REF_RGD_ID:153323310 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:lung (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:lung (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1322684 D RGD:9068941 20220812 RGD human cells in a mouse model PMID:32228507|REF_RGD_ID:153323307 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1322684 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS:p.D140E (rs7479004) (human) PMID:29667179|REF_RGD_ID:151660359 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:decreased expression:kidney (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:5419 schizophrenia ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:head or neck skin (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1322684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20693977|PMID:22302795|PMID:24348274|PMID:25849321|PMID:26116663|PMID:27418512|PMID:27479907|PMID:27616479|PMID:28135719|PMID:28492532|PMID:9536098 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1322684 D RGD:9068941 20220811 RGD mRNA:increased expression:liver (human) PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:liver (human) PMID:32070428|REF_RGD_ID:153323308 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD protein:increased expression:liver (human) PMID:26095183|REF_RGD_ID:11571740 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1322684 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1322684 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1322684 D RGD:9068941 20220811 RGD associated with human colon adenocarcinoma cells in a mouse model PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9006728 Triple Negative Breast Neoplasms exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD protein:increased expression:breast (human) PMID:29305962|REF_RGD_ID:153323306 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1322684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1322684 D RGD:9068941 20220811 RGD associated with human colon adenocarcinoma cells in a mouse model PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9256 colorectal cancer ISO RGD:1322684 D RGD:9068941 20220812 RGD PMID:28486105|REF_RGD_ID:153323299 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1322684 D RGD:9068941 20220812 RGD mRNA:increased expression:lymph node (human) PMID:29467924|REF_RGD_ID:153323304 8704413 Chd4 chromodomain helicase DNA binding protein 4 gene DOID:936 brain disease ISO RGD:1322684 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1319118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:0060898 Parkinson's disease 20 ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1319118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8704464 Son SON DNA and RNA binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8704464 Son SON DNA and RNA binding protein gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 8704464 Son SON DNA and RNA binding protein gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1319118 D RGD:9068941 20221110 RGD DNA:missense mutations:exon 3:multiple (human) PMID:31005274|REF_RGD_ID:155641262 8704464 Son SON DNA and RNA binding protein gene DOID:1059 intellectual disability ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8704464 Son SON DNA and RNA binding protein gene DOID:630 genetic disease ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 8704464 Son SON DNA and RNA binding protein gene DOID:8469 influenza ISO RGD:1319119 D RGD:9068941 20221110 RGD PMID:34883209|REF_RGD_ID:155641258 8704464 Son SON DNA and RNA binding protein gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8704464 Son SON DNA and RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28492532|PMID:34521999 8704464 Son SON DNA and RNA binding protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1319118 D RGD:7240710 20190315 OMIM 8704464 Son SON DNA and RNA binding protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1319118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SON-related condition | ClinVar Annotator: match by term: ZTTK syndrome PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:32368696|PMID:34521999 8704464 Son SON DNA and RNA binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:1319118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25590979|PMID:25741868|PMID:25741875|PMID:27256762|PMID:27545676|PMID:27545680|PMID:28135719|PMID:28492532|PMID:34521999 8704464 Son SON DNA and RNA binding protein gene DOID:9008582 Developmental Disease ISO RGD:1319118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8704481 Znf81 zinc finger protein 81 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1349324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 8704481 Znf81 zinc finger protein 81 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8704481 Znf81 zinc finger protein 81 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8704481 Znf81 zinc finger protein 81 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8704481 Znf81 zinc finger protein 81 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8704481 Znf81 zinc finger protein 81 gene DOID:0112028 non-syndromic X-linked intellectual disability 45 ISO RGD:1349324 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 45 PMID:10398246|PMID:15121780 8704481 Znf81 zinc finger protein 81 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8704481 Znf81 zinc finger protein 81 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349324 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8704481 Znf81 zinc finger protein 81 gene DOID:12849 autistic disorder ISO RGD:1349324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8704481 Znf81 zinc finger protein 81 gene DOID:630 genetic disease ISO RGD:1349324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:1168 familial hyperlipidemia ISO RGD:2993 D RGD:9068941 20200609 RGD PMID:12935429|REF_RGD_ID:1581787 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:1391 Norum disease ISO RGD:737383 D RGD:7240710 20180130 OMIM 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:1391 Norum disease ISO RGD:737383 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease PMID:1516702|PMID:15297675|PMID:1571050|PMID:1588268|PMID:15994445|PMID:1662503|PMID:1681161|PMID:1737840|PMID:17526537|PMID:1859405|PMID:2052566|PMID:21600519|PMID:21875686|PMID:21901787|PMID:22090275|PMID:22189200|PMID:22629316|PMID:22701329|PMID:22923420|PMID:23236364|PMID:2370048|PMID:24503134|PMID:24507774|PMID:24636183|PMID:24715031|PMID:25727495|PMID:25741868|PMID:25948084|PMID:26195816|PMID:28492532|PMID:28870971|PMID:28983876|PMID:29030428|PMID:29083407|PMID:30333156|PMID:31164121|PMID:32041611|PMID:33816482|PMID:6078131|PMID:6624548|PMID:7613477|PMID:8432868|PMID:8620346|PMID:8675648|PMID:8755645|PMID:9261271|PMID:9541390|PMID:9741700 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:2349 arteriosclerosis ISO RGD:10859 D RGD:9068941 20200609 RGD PMID:11809774|REF_RGD_ID:1581783 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:737383 D RGD:9068941 20200609 RGD PMID:12673583|REF_RGD_ID:1581779 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:5844 myocardial infarction ISO RGD:2993 D RGD:9068941 20200609 RGD PMID:16640830|REF_RGD_ID:1581773 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:630 genetic disease ISO RGD:737383 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:737383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:783 end stage renal disease ISO RGD:2993 D RGD:9068941 20200609 RGD PMID:15280162|REF_RGD_ID:1581769 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:9006599 Hypertriglyceridemia ISO RGD:10859 D RGD:9068941 20200609 RGD PMID:14668345|REF_RGD_ID:1581782 8704490 Lcat lecithin-cholesterol acyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2993 D RGD:9068941 20230831 RGD mRNA:decreased expression:liver (rat) PMID:28959666|REF_RGD_ID:401794432 8704505 Ube2l6 ubiquitin conjugating enzyme E2 L6 gene DOID:1059 intellectual disability ISO RGD:1317456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8704505 Ube2l6 ubiquitin conjugating enzyme E2 L6 gene DOID:630 genetic disease ISO RGD:1317456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704505 Ube2l6 ubiquitin conjugating enzyme E2 L6 gene DOID:9001488 Human Influenza ISO RGD:1317456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8704512 Ncdn neurochondrin gene DOID:0050753 cerebellar ataxia ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:33711248 8704512 Ncdn neurochondrin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8704512 Ncdn neurochondrin gene DOID:1059 intellectual disability ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33711248 8704512 Ncdn neurochondrin gene DOID:1826 epilepsy ISO RGD:734133 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:33711248 8704512 Ncdn neurochondrin gene DOID:630 genetic disease ISO RGD:734133 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8704512 Ncdn neurochondrin gene DOID:9005816 NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS ISO RGD:734133 D RGD:7240710 20220216 OMIM 8704512 Ncdn neurochondrin gene DOID:9005816 NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS ISO RGD:734133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with infantile epileptic spasms PMID:25741868|PMID:33711248 8704538 Pxylp1 2-phosphoxylose phosphatase 1 gene DOID:630 genetic disease ISO RGD:1342803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704578 Fancb FA complementation group B gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1351449 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 8704578 Fancb FA complementation group B gene DOID:0070422 syndromic X-linked intellectual disability Pilorge type ISO RGD:1351449 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type PMID:20479760|PMID:25741868|PMID:28588452 8704578 Fancb FA complementation group B gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1351449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia, group A PMID:25741868|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:0111098 Fanconi anemia complementation group B ISO RGD:1351449 D RGD:7240710 20180130 OMIM 8704578 Fancb FA complementation group B gene DOID:0111098 Fanconi anemia complementation group B ISO RGD:1351449 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B PMID:15502827|PMID:16679491|PMID:17924555|PMID:21910217|PMID:23613520|PMID:24033266|PMID:25168418|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32546565|PMID:8368240 8704578 Fancb FA complementation group B gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement PMID:24033266|PMID:25741868|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:0111766 X-linked VACTERL association ISO RGD:1351449 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H PMID:24033266|PMID:25741868|PMID:28492532|PMID:32546565 8704578 Fancb FA complementation group B gene DOID:12849 autistic disorder ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8704578 Fancb FA complementation group B gene DOID:13636 Fanconi anemia ISO RGD:1351449 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:15502827|PMID:16199547|PMID:17576681|PMID:23613520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32106311|PMID:32410215|PMID:32546565|PMID:9536098 8704578 Fancb FA complementation group B gene DOID:1612 breast cancer ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351449 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:20332657|REF_RGD_ID:11344903 8704578 Fancb FA complementation group B gene DOID:630 genetic disease ISO RGD:1351449 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8704578 Fancb FA complementation group B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8704588 Apcdd1l APC down-regulated 1 like gene DOID:630 genetic disease ISO RGD:1605849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25186627|PMID:25741868|PMID:26315354|PMID:26467025|PMID:27443514|PMID:28492532|PMID:29596542|PMID:32268276|PMID:33118316|PMID:33471991 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:10534 stomach cancer ISO RGD:736238 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16199547|PMID:20077502|PMID:21344236|PMID:23334666|PMID:25741868|PMID:26010302|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26720728|PMID:27009842|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29338689|PMID:29367421|PMID:29922827|PMID:31036035|PMID:31371347|PMID:31843900|PMID:32566746|PMID:32832836|PMID:33471991|PMID:33498765|PMID:34196900|PMID:36988593 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1324 lung cancer ISO RGD:736238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:19197335|PMID:20077502|PMID:25741868|PMID:26467025|PMID:26738429|PMID:28492532 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1520 colon carcinoma ISO RGD:736238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:19197335|PMID:20077502|PMID:25741868|PMID:26350354|PMID:26467025|PMID:26738429|PMID:28135145|PMID:28492532|PMID:31371347 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25186627|PMID:25288723|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29596542|PMID:29625052|PMID:29785153|PMID:29858377|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30374176|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:34754157|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer ISO RGD:736238 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11807980|PMID:14550946|PMID:15342711|PMID:15855157|PMID:16061562|PMID:16333312|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24123366|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27443514|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28301456|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:29292755|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30374176|PMID:30781715|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31371347|PMID:31666926|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:34196900|PMID:34326862|PMID:34754157|PMID:34906988|PMID:35264596|PMID:36187937|PMID:36988593|PMID:37149759|PMID:37337119|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.C557S (human) PMID:17333333|REF_RGD_ID:2315714 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:17972171|REF_RGD_ID:2315715 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer no_association ISO RGD:736238 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V507M, p.C557S (human) PMID:16333312|REF_RGD_ID:2315717 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer severity ISO RGD:736238 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:breast PMID:16152612|REF_RGD_ID:2315727 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736238 D RGD:7240710 20230505 OMIM 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:1781 thyroid cancer ISO RGD:736238 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:25186627|PMID:25741868|PMID:26315354|PMID:26787654|PMID:26976419|PMID:28492532|PMID:33471991 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:2394 ovarian cancer ISO RGD:736238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:15855157|PMID:19139070|PMID:23056176|PMID:25085752|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26010302|PMID:26350354|PMID:26467025|PMID:26757417|PMID:26787654|PMID:27498913|PMID:28051113|PMID:28492532|PMID:28912018|PMID:29905759|PMID:30093976|PMID:30925164|PMID:30982232|PMID:31036035|PMID:31666926|PMID:31871109|PMID:32008151|PMID:32068069|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33646313|PMID:34646395|PMID:34754157|PMID:35402282 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:2871 endometrial carcinoma ISO RGD:736238 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:20077502|PMID:21344236|PMID:25330149|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26315354|PMID:26329992|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27443514|PMID:28008555|PMID:28492532|PMID:29625052|PMID:30947698|PMID:31036035|PMID:32295079|PMID:32679805|PMID:33471991|PMID:37239058|PMID:37563628 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:3459 breast carcinoma ISO RGD:736238 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:1584056|PMID:16199547|PMID:20077502|PMID:21344236|PMID:25741868|PMID:28492532|PMID:28724667|PMID:31036035|PMID:31371347|PMID:32658311|PMID:32832836|PMID:33479248 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736238 D RGD:9068941 20210604 RGD PMID:21815143|REF_RGD_ID:127229947 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:12832489|PMID:15855157|PMID:16199547|PMID:17550235|PMID:17848578|PMID:19139070|PMID:20077502|PMID:21344236|PMID:22006311|PMID:23056176|PMID:23334666|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27443514|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:32295079|PMID:32566746|PMID:32832836 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:33471991|PMID:33552952|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:33471991|PMID:33552952|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:29292755|PMID:29625052|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32980694|PMID:33471991|PMID:33498765|PMID:33552952|PMID:34034685|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32726901|PMID:32832836|PMID:32980694|PMID:33471991|PMID:33498765|PMID:33552952|PMID:34034685|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34250417|PMID:34754157|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:36988593|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:36988593|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:35264596|PMID:36988593|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:35264596|PMID:35734982|PMID:36988593|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736238 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:15342711|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17848578|PMID:17972171|PMID:18480049|PMID:18481171|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20077502|PMID:20842729|PMID:21344236|PMID:21393566|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24454733|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26546047|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26738429|PMID:26787654|PMID:26976419|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28050010|PMID:28174632|PMID:28492532|PMID:28709830|PMID:28724667|PMID:28888541|PMID:29292755|PMID:29338689|PMID:29367421|PMID:29625052|PMID:29641532|PMID:29700634|PMID:29769598|PMID:29790872|PMID:29905759|PMID:29922827|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30781715|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31341520|PMID:31371347|PMID:31666926|PMID:31843900|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32726901|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33809641|PMID:34034685|PMID:34196900|PMID:34250417|PMID:34754157|PMID:35264596|PMID:35734982|PMID:36988593|PMID:37239058|PMID:37563628|PMID:9425226 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:630 genetic disease ISO RGD:736238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:687 hepatoblastoma ISO RGD:736238 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:35264596|PMID:35495172|PMID:36187937 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:769 neuroblastoma ISO RGD:736238 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19412175|PMID:23334666 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:8466 retinal degeneration ISO RGD:621072 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:736238 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:25085752|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26787654|PMID:28135145|PMID:28492532|PMID:30925164|PMID:31371347|PMID:32068069|PMID:33471991 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:621072 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733490 D RGD:9068941 20200609 RGD PMID:18443292|REF_RGD_ID:2293149 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:2007750|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30680046|PMID:30804502|PMID:30925164|PMID:31036035|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32658311|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32980694|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34359559|PMID:34906988|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:2007750|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30804502|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35402282|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33692861|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35402282|PMID:36187937|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35595798|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36988593|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29858377|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33606809|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35595798|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36988593|PMID:37149759|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33118316|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33606809|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35495172|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36988593|PMID:37149759|PMID:37262986|PMID:37337119|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736238 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11807980|PMID:12832489|PMID:14550946|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:20030863|PMID:20077502|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29025590|PMID:29263802|PMID:29292755|PMID:29338689|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33606809|PMID:33606978|PMID:33621668|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34754157|PMID:34906988|PMID:35264596|PMID:35402282|PMID:35495172|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9007346 Cachexia ISO RGD:621072 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;protein:increased expression:skeletal muscle PMID:16685375|REF_RGD_ID:2315732 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736238 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:20077502|PMID:21344236|PMID:25085752|PMID:25741868|PMID:26315354|PMID:26467025|PMID:28492532|PMID:29566657|PMID:30925164 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736238 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11807980|PMID:11943588|PMID:12832489|PMID:14550946|PMID:14560035|PMID:14578343|PMID:15040442|PMID:15342711|PMID:15782130|PMID:1584056|PMID:15855157|PMID:15855896|PMID:16061562|PMID:16199547|PMID:16333312|PMID:16633366|PMID:16651405|PMID:16741161|PMID:16768547|PMID:16825437|PMID:17333333|PMID:17550235|PMID:17576681|PMID:17848578|PMID:17972171|PMID:18089818|PMID:18480049|PMID:18481171|PMID:18842000|PMID:19139070|PMID:19197335|PMID:19412175|PMID:19584272|PMID:19763152|PMID:20030863|PMID:20077502|PMID:20307669|PMID:20379136|PMID:20842729|PMID:21344236|PMID:21393566|PMID:22006311|PMID:22406018|PMID:22927429|PMID:23056176|PMID:23334666|PMID:23680151|PMID:24033266|PMID:24123366|PMID:24302565|PMID:24454733|PMID:24463508|PMID:25058500|PMID:25085752|PMID:251316|PMID:25186627|PMID:25288723|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25634209|PMID:25640679|PMID:25741868|PMID:25980754|PMID:25994375|PMID:26010302|PMID:26022179|PMID:26075229|PMID:26307947|PMID:26315354|PMID:26329992|PMID:26350354|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26534844|PMID:26546047|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26720728|PMID:26738429|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26979391|PMID:26979419|PMID:27009842|PMID:27083178|PMID:27153395|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27621404|PMID:27720647|PMID:27742771|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27997549|PMID:28008555|PMID:28030839|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28174632|PMID:28202063|PMID:28281021|PMID:28301456|PMID:28486781|PMID:28492532|PMID:28569743|PMID:28640387|PMID:28709830|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28821472|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28912018|PMID:28976962|PMID:29180619|PMID:29263802|PMID:29292755|PMID:29338689|PMID:29367421|PMID:29368341|PMID:29478780|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29700634|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29790872|PMID:29868112|PMID:29905759|PMID:29915797|PMID:29922827|PMID:29978187|PMID:29982661|PMID:30067863|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30422164|PMID:30441849|PMID:30541756|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30781715|PMID:30804502|PMID:30833958|PMID:30925164|PMID:30947698|PMID:30982232|PMID:31036035|PMID:31118792|PMID:31159747|PMID:31275557|PMID:31341520|PMID:31371347|PMID:31465090|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31803232|PMID:31843900|PMID:31871109|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32679805|PMID:32720237|PMID:32726901|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33118316|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33479248|PMID:33498765|PMID:33552952|PMID:33574475|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33692861|PMID:33804961|PMID:33809641|PMID:33933153|PMID:34034685|PMID:34102105|PMID:34153142|PMID:34196900|PMID:34250417|PMID:34321665|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34646395|PMID:34754157|PMID:34789768|PMID:34906988|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35495172|PMID:35595798|PMID:35734982|PMID:35768576|PMID:35957908|PMID:36187937|PMID:36243179|PMID:36315513|PMID:36672847|PMID:36980780|PMID:36988593|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37337119|PMID:37563628|PMID:9425226|PMID:9536098 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:936 brain disease ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 8704601 Bard1 BRCA1 associated RING domain 1 gene DOID:9538 multiple myeloma ISO RGD:736238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8704622 Cenpk centromere protein K gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1605966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 8704622 Cenpk centromere protein K gene DOID:630 genetic disease ISO RGD:1605966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704622 Cenpk centromere protein K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8704636 Shf Src homology 2 domain containing F gene DOID:0050712 AGAT deficiency ISO RGD:1602197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8704636 Shf Src homology 2 domain containing F gene DOID:2717 Bloom syndrome ISO RGD:1602197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8704636 Shf Src homology 2 domain containing F gene DOID:630 genetic disease ISO RGD:1602197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704636 Shf Src homology 2 domain containing F gene DOID:9256 colorectal cancer ISO RGD:1602197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8704659 Mif4gd MIF4G domain containing gene DOID:630 genetic disease ISO RGD:1606529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704678 Llph LLP homolog, long-term synaptic facilitation factor gene DOID:630 genetic disease ISO RGD:1604260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:1059 intellectual disability ISO RGD:1318592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:630 genetic disease ISO RGD:1318592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8704693 Ssh3 slingshot protein phosphatase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:10283 prostate cancer ISO RGD:1348366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8704724 Tsnaxip1 translin associated factor X interacting protein 1 gene DOID:630 genetic disease ISO RGD:1348366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704748 Serpinb12 serpin family B member 12 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343942 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8704748 Serpinb12 serpin family B member 12 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8704748 Serpinb12 serpin family B member 12 gene DOID:630 genetic disease ISO RGD:1343942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704777 Myo1b myosin IB gene DOID:630 genetic disease ISO RGD:735320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704777 Myo1b myosin IB gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8704777 Myo1b myosin IB gene DOID:9004657 Weight Gain ISO RGD:735320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8704777 Myo1b myosin IB gene DOID:9005369 Hepatomegaly ISO RGD:735320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8704777 Myo1b myosin IB gene DOID:9256 colorectal cancer ISO RGD:735320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8704832 Bace1 beta-secretase 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:0080690 RASopathy ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:0111123 nephronophthisis 15 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8704832 Bace1 beta-secretase 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8704832 Bace1 beta-secretase 1 gene DOID:1059 intellectual disability ISO RGD:1606566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8704832 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16407166 8704832 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1606566 D RGD:9068941 20200609 RGD PMID:12824768|REF_RGD_ID:1358439 8704832 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1332039 D RGD:9068941 20200609 RGD PMID:29038004|REF_RGD_ID:13782077 8704832 Bace1 beta-secretase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:2191 D RGD:9068941 20200609 RGD PMID:28763060|REF_RGD_ID:13782083 8704832 Bace1 beta-secretase 1 gene DOID:1307 dementia treatment ISO RGD:2191 D RGD:9068941 20200609 RGD PMID:28683457|REF_RGD_ID:13782142 8704832 Bace1 beta-secretase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased activity,increased expression:brain cortex PMID:15120577|REF_RGD_ID:13782170 8704832 Bace1 beta-secretase 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:2191 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:28012171|REF_RGD_ID:13782150 8704832 Bace1 beta-secretase 1 gene DOID:5419 schizophrenia ISO RGD:1332039 D RGD:9068941 20220825 MouseDO OMIM:181500 8704832 Bace1 beta-secretase 1 gene DOID:630 genetic disease ISO RGD:1606566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704832 Bace1 beta-secretase 1 gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:30028260|REF_RGD_ID:13782136 8704832 Bace1 beta-secretase 1 gene DOID:9002211 Hyperalgesia ISO RGD:2191 D RGD:9068941 20200609 RGD PMID:28012171|REF_RGD_ID:13782150 8704832 Bace1 beta-secretase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:2191 D RGD:9068941 20200609 RGD associated with Sleep Deprivation PMID:28455102|REF_RGD_ID:13782059 8704832 Bace1 beta-secretase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8704832 Bace1 beta-secretase 1 gene DOID:9007661 Dwarfism ISO RGD:1606566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8704832 Bace1 beta-secretase 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:28683457|REF_RGD_ID:13782142 8704832 Bace1 beta-secretase 1 gene DOID:9007980 Sleep Deprivation ISO RGD:2191 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:28455102|REF_RGD_ID:13782059 8704832 Bace1 beta-secretase 1 gene DOID:9009105 HIV Encephalitis ISO RGD:1606566 D RGD:9068941 20200609 RGD PMID:29632166|REF_RGD_ID:13782045 8704858 Serpinb8 serpin family B member 8 gene DOID:0060283 peeling skin syndrome ISO RGD:1320387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8704858 Serpinb8 serpin family B member 8 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320387 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8704858 Serpinb8 serpin family B member 8 gene DOID:0070524 peeling skin syndrome 5 ISO RGD:1320387 D RGD:7240710 20190315 OMIM 8704858 Serpinb8 serpin family B member 8 gene DOID:0070524 peeling skin syndrome 5 ISO RGD:1320387 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 5 PMID:25741868|PMID:27476651|PMID:28492532 8704858 Serpinb8 serpin family B member 8 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1320387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8704858 Serpinb8 serpin family B member 8 gene DOID:630 genetic disease ISO RGD:1320387 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8704858 Serpinb8 serpin family B member 8 gene DOID:8893 psoriasis ISO RGD:1320387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 8704874 LOC102028179 olfactory receptor 52A1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1342762 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8704874 LOC102028179 olfactory receptor 52A1 gene DOID:630 genetic disease ISO RGD:1342762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704877 LOC102028532 cytochrome b561 gene DOID:630 genetic disease ISO RGD:1322199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704877 LOC102028532 cytochrome b561 gene DOID:9009252 Orthostatic Hypotension 2 ISO RGD:1322199 D RGD:7240710 20190315 OMIM 8704877 LOC102028532 cytochrome b561 gene DOID:9009252 Orthostatic Hypotension 2 ISO RGD:1322199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orthostatic hypotension 2 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0080600 COVID-19 ISO RGD:1318125 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:10283 prostate cancer ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:630 genetic disease ISO RGD:1318125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1318125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8704975 Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1318125 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8704996 Tmem108 transmembrane protein 108 gene DOID:12712 nephronophthisis ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 8704996 Tmem108 transmembrane protein 108 gene DOID:630 genetic disease ISO RGD:1604309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8704996 Tmem108 transmembrane protein 108 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8704996 Tmem108 transmembrane protein 108 gene DOID:9270 alkaptonuria ISO RGD:1604309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:0110406 retinitis pigmentosa 30 ISO RGD:1319003 D RGD:7240710 20180130 OMIM 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:0110406 retinitis pigmentosa 30 ISO RGD:1319003 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 30 PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:17576681|PMID:18450588|PMID:25741868|PMID:28492532|PMID:34996991|PMID:9536098 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:10584 retinitis pigmentosa ISO RGD:1319003 D RGD:9068941 20200609 RGD PMID:11527955|REF_RGD_ID:1598962 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1319003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:18450588|PMID:28492532 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:2742 auditory system disease ISO RGD:1319004 D RGD:9068941 20220825 MouseDO 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:4448 macular degeneration ISO RGD:1319003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:11527955|PMID:14609921|PMID:15994872|PMID:16280978|PMID:16799052|PMID:17251446|PMID:18450588|PMID:28492532 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:630 genetic disease ISO RGD:1319003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8705018 Fscn2 fascin actin-bundling protein 2, retinal gene DOID:8466 retinal degeneration ISO RGD:1319004 D RGD:9068941 20220825 MouseDO 8705029 Tektip1 tektin bundle interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1347873 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:630 genetic disease ISO RGD:1347873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347873 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8705041 Tomm5 translocase of outer mitochondrial membrane 5 gene DOID:9870 galactosemia ISO RGD:1347873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8705053 Prlh prolactin releasing hormone gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8705053 Prlh prolactin releasing hormone gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8705053 Prlh prolactin releasing hormone gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1352450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8705053 Prlh prolactin releasing hormone gene DOID:1059 intellectual disability ISO RGD:1352450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8705053 Prlh prolactin releasing hormone gene DOID:630 genetic disease ISO RGD:1352450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705053 Prlh prolactin releasing hormone gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8705053 Prlh prolactin releasing hormone gene DOID:9970 obesity ISO RGD:1617091 D RGD:9068941 20220825 MouseDO OMIM:601665 8705053 Prlh prolactin releasing hormone gene DOID:9970 obesity ISO RGD:628634 D RGD:9068941 20200609 RGD PMID:15854142|REF_RGD_ID:1641829 8705067 Rab10 RAB10, member RAS oncogene family gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:735722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8705067 Rab10 RAB10, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:735722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705067 Rab10 RAB10, member RAS oncogene family gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:733173 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 8705077 Scara5 scavenger receptor class A member 5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8705077 Scara5 scavenger receptor class A member 5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1606661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8705077 Scara5 scavenger receptor class A member 5 gene DOID:630 genetic disease ISO RGD:1606661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0050451 Brugada syndrome ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1350483 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:20437590|PMID:20628201|PMID:206282012|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23527921|PMID:23584539|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:29056246|PMID:32466254|PMID:36288729|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:1350483 D RGD:7240710 20190315 OMIM 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:1350483 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16199547|PMID:16205844|PMID:17020904|PMID:17604911|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:206282012|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23148524|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25253298|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:26498160|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28218389|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:30660056|PMID:31069529|PMID:31709768|PMID:31980526|PMID:32192759|PMID:32369273|PMID:32466254|PMID:32931854|PMID:36288729|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350483 D RGD:7240710 20180130 OMIM 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1350483 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16199547|PMID:16205844|PMID:17020904|PMID:17576681|PMID:17604911|PMID:17629415|PMID:17928445|PMID:18464934|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21040232|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22247482|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:22987075|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:24848745|PMID:24981977|PMID:25253298|PMID:25421039|PMID:25668026|PMID:25741868|PMID:25827112|PMID:25998140|PMID:26042039|PMID:26129877|PMID:26467025|PMID:26498160|PMID:26704558|PMID:27207958|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27707468|PMID:27896052|PMID:28074886|PMID:28331474|PMID:28341588|PMID:28449774|PMID:28488083|PMID:28492532|PMID:28600387|PMID:28681755|PMID:28717674|PMID:28726809|PMID:28837624|PMID:29056246|PMID:29358611|PMID:29572929|PMID:29655203|PMID:29758173|PMID:29915715|PMID:29924869|PMID:29992740|PMID:30182498|PMID:30660056|PMID:31069529|PMID:31465153|PMID:31709768|PMID:31729702|PMID:31737628|PMID:31980526|PMID:32192759|PMID:32369273|PMID:32466254|PMID:32593896|PMID:32613771|PMID:32651551|PMID:33552729|PMID:33901312|PMID:34034907|PMID:36011376|PMID:36288729|PMID:5421039|PMID:9461582|PMID:9536098|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1350483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:1350483 D RGD:7240710 20180130 OMIM 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:1350483 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16199547|PMID:16205844|PMID:17020904|PMID:17604911|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:19808477|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25421039|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:26498160|PMID:26704558|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28218389|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:30660056|PMID:31069529|PMID:31465153|PMID:31709768|PMID:31980526|PMID:32192759|PMID:32369273|PMID:32466254|PMID:32651551|PMID:36011376|PMID:36288729|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:10273 heart conduction disease ISO RGD:1350483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:18464934 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:11832 visual epilepsy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25326637|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28837624|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1825 childhood absence epilepsy ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood absence epilepsy PMID:25741868|PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15671291|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17928445|PMID:18941776|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20437590|PMID:20628201|PMID:206282012|PMID:20662403|PMID:21994374|PMID:22292491|PMID:22425777|PMID:23182416|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24065921|PMID:24529773|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24662403|PMID:24747835|PMID:25253298|PMID:25668026|PMID:25741868|PMID:25827112|PMID:26042039|PMID:26467025|PMID:27207958|PMID:27216889|PMID:27277800|PMID:28331474|PMID:28492532|PMID:28717674|PMID:28837624|PMID:29056246|PMID:32466254|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:15671291|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20662403|PMID:23861362|PMID:24529773|PMID:24662403|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:27207958|PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:1826 epilepsy ISO RGD:1350483 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Seizure PMID:15671291|PMID:19522081|PMID:19710327|PMID:20226894|PMID:20662403|PMID:23861362|PMID:24529773|PMID:24662403|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:27207958|PMID:28492532|PMID:28681755 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:2843 long QT syndrome ISO RGD:1350483 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15671291|PMID:19522081|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22840528|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24529773|PMID:25253298|PMID:25668026|PMID:25741868|PMID:26042039|PMID:26467025|PMID:26498160|PMID:27435932|PMID:27896052|PMID:28341588|PMID:28492532|PMID:28837624|PMID:29758173 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1350483 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611|PMID:29758173 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:630 genetic disease ISO RGD:1350483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12011299|PMID:19522081|PMID:24662403|PMID:25741868|PMID:28492532|PMID:29992740|PMID:31737628|PMID:9461582|PMID:9697698 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:24033266|PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1350483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:22987075|PMID:23861362|PMID:28492532|PMID:28600387 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9000543 Death ISO RGD:1350483 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:19808477|PMID:24033266|PMID:24055113|PMID:25741868|PMID:27435932|PMID:28492532 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1350483 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:31465153 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9002996 Familial Atrial Fibrillation 13 ISO RGD:1350483 D RGD:7240710 20180130 OMIM 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9002996 Familial Atrial Fibrillation 13 ISO RGD:1350483 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:11254444|PMID:11263970|PMID:11866477|PMID:12011299|PMID:12486163|PMID:14504340|PMID:14690046|PMID:15710580|PMID:15857929|PMID:16205844|PMID:17020904|PMID:17629415|PMID:17928445|PMID:18941776|PMID:19710327|PMID:19808477|PMID:20437590|PMID:20628201|PMID:206282012|PMID:21703448|PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22292491|PMID:22425777|PMID:22840528|PMID:23182416|PMID:23414114|PMID:23465283|PMID:23527921|PMID:23584539|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24065921|PMID:24567321|PMID:24605816|PMID:24623842|PMID:24747835|PMID:25253298|PMID:25421039|PMID:25741868|PMID:25827112|PMID:26467025|PMID:26498160|PMID:27216889|PMID:27277800|PMID:27435932|PMID:27896052|PMID:28331474|PMID:28341588|PMID:28492532|PMID:28681755|PMID:28717674|PMID:28837624|PMID:29056246|PMID:29655203|PMID:29758173|PMID:31069529|PMID:31980526|PMID:32192759|PMID:32466254|PMID:36011376|PMID:36288729|PMID:5421039|PMID:9461582|PMID:9539778|PMID:9697698|PMID:9894880 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1350483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22155597 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:1350483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 8705090 Scn1b sodium voltage-gated channel beta subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3631 D RGD:9068941 20200609 RGD mRNA:increased expression:heart ventricle PMID:22581745|REF_RGD_ID:6484255 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1316849 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:1059 intellectual disability ISO RGD:1316849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8705109 Mrpl48 mitochondrial ribosomal protein L48 gene DOID:630 genetic disease ISO RGD:1316849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1342875 D RGD:7240710 20180130 OMIM 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1342875 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:14708602|PMID:15136565|PMID:20022472|PMID:20520629|PMID:22373837|PMID:25741868|PMID:27025581|PMID:28492532|PMID:29130490|PMID:31883530|PMID:6181472 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1342875 D RGD:9068941 20200609 RGD PMID:11590543|REF_RGD_ID:1598668 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1342875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:234 colon adenocarcinoma ISO RGD:1342875 D RGD:9068941 20220721 RGD human cells in mouse model PMID:30842415|REF_RGD_ID:153002829 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1342875 D RGD:9068941 20220721 RGD mRNA:decreased expression:colon (human) PMID:30842415|REF_RGD_ID:153002829 8705126 Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase gene DOID:630 genetic disease ISO RGD:1342875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8705149 Rps6kl1 ribosomal protein S6 kinase like 1 gene DOID:1059 intellectual disability ISO RGD:1319861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8705149 Rps6kl1 ribosomal protein S6 kinase like 1 gene DOID:630 genetic disease ISO RGD:1319861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705171 Fads6 fatty acid desaturase 6 gene DOID:630 genetic disease ISO RGD:1351054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705185 Pot1 protection of telomeres 1 gene DOID:0080014 chromosomal disease ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502782 8705185 Pot1 protection of telomeres 1 gene DOID:0081304 high-grade astrocytoma with piloid features ISO RGD:1344340 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: High-grade astrocytoma with piloid features PMID:25741868 8705185 Pot1 protection of telomeres 1 gene DOID:10041 dysplastic nevus syndrome ISO RGD:1344340 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: B-K MOLE SYNDROME PMID:24686846|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:36876055|PMID:37140166 8705185 Pot1 protection of telomeres 1 gene DOID:1037 lymphoid leukemia ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502782|PMID:24292274 8705185 Pot1 protection of telomeres 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1344340 D RGD:9068941 20220218 RGD PMID:18425352|REF_RGD_ID:151356939 8705185 Pot1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: : rs10244817 (human) PMID:19285750|REF_RGD_ID:151356947 8705185 Pot1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :p.V326A (rs75932146) (human) PMID:32514122|REF_RGD_ID:151356948 8705185 Pot1 protection of telomeres 1 gene DOID:1324 lung cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs116895242 (human) PMID:27459707|REF_RGD_ID:151356949 8705185 Pot1 protection of telomeres 1 gene DOID:1909 melanoma ISO RGD:1344340 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:24686846|PMID:25741868|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:37140166 8705185 Pot1 protection of telomeres 1 gene DOID:1909 melanoma ISO RGD:1344340 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT PMID:24686846|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:36876055|PMID:37140166 8705185 Pot1 protection of telomeres 1 gene DOID:1949 cholecystitis ISO RGD:1344340 D RGD:9068941 20220218 RGD mRNA:decreased expression:gall bladder PMID:28643740|REF_RGD_ID:151356941 8705185 Pot1 protection of telomeres 1 gene DOID:2394 ovarian cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs116895242 (human) PMID:27459707|REF_RGD_ID:151356949 8705185 Pot1 protection of telomeres 1 gene DOID:3070 high grade glioma ISO RGD:1344340 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:25741868|PMID:28492532|PMID:32191290 8705185 Pot1 protection of telomeres 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8705185 Pot1 protection of telomeres 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1344340 D RGD:9068941 20220602 RGD associated with hepatitis B;DNA:SNP: :rs7784168(human) PMID:23907815|REF_RGD_ID:152975963 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:7240710 20231004 OMIM 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30975761|PMID:31919090|PMID:32155570|PMID:33119245|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:32155570|PMID:32325837|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:6846 familial melanoma ISO RGD:1344340 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27013236|PMID:27239034|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28389767|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:30975761|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33782098|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:8923 skin melanoma ISO RGD:1344340 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:24686846|PMID:25741868|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:37140166 8705185 Pot1 protection of telomeres 1 gene DOID:8923 skin melanoma ISO RGD:1344340 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY PMID:24686846|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30451293|PMID:30586141|PMID:34193977|PMID:36876055|PMID:37140166 8705185 Pot1 protection of telomeres 1 gene DOID:9000987 Cerebroretinal Microangiopathy with Calcifications and Cysts 3 ISO RGD:1344340 D RGD:7240710 20231004 OMIM 8705185 Pot1 protection of telomeres 1 gene DOID:9000987 Cerebroretinal Microangiopathy with Calcifications and Cysts 3 ISO RGD:1344340 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 PMID:27013236|PMID:28492532 8705185 Pot1 protection of telomeres 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24686849 8705185 Pot1 protection of telomeres 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:1344340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502782 8705185 Pot1 protection of telomeres 1 gene DOID:9005799 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 ISO RGD:1344340 D RGD:7240710 20231004 OMIM 8705185 Pot1 protection of telomeres 1 gene DOID:9005799 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 ISO RGD:1344340 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 PMID:35420632 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33216348|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19461895|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28853721|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29693246|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:32155570|PMID:32907878|PMID:33119245|PMID:33216348|PMID:34193977|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344340 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:19461895|PMID:23502782|PMID:24686846|PMID:24686849|PMID:25244922|PMID:25482530|PMID:25741868|PMID:25877891|PMID:25934589|PMID:26365187|PMID:26403419|PMID:26467025|PMID:27329137|PMID:27365461|PMID:27528712|PMID:27869160|PMID:28166811|PMID:28393830|PMID:28393832|PMID:28492532|PMID:28592523|PMID:28853721|PMID:29036293|PMID:29522175|PMID:29523635|PMID:29625052|PMID:29641532|PMID:29693246|PMID:30414346|PMID:30451293|PMID:30523342|PMID:30556179|PMID:30586141|PMID:31919090|PMID:31937561|PMID:32033110|PMID:32155570|PMID:32191290|PMID:32325837|PMID:32449991|PMID:32720348|PMID:32907878|PMID:32987645|PMID:33050356|PMID:33054084|PMID:33119245|PMID:33216348|PMID:33525650|PMID:33941849|PMID:34193977|PMID:35727838|PMID:36539277|PMID:36876055|PMID:37140166|PMID:9536098 8705185 Pot1 protection of telomeres 1 gene DOID:9256 colorectal cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs116895242 (human) PMID:27459707|REF_RGD_ID:151356949 8705185 Pot1 protection of telomeres 1 gene DOID:9256 colorectal cancer ISO RGD:1344340 D RGD:9068941 20220218 RGD DNA:SNP: :rs2975843 (human) PMID:32586834|REF_RGD_ID:151356943 8705185 Pot1 protection of telomeres 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1344340 D RGD:9068941 20220218 RGD mRNA:increased expression:colorectum PMID:25194444|REF_RGD_ID:151356940 8705224 Alk ALK receptor tyrosine kinase gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:1353820 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:1353820 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a PMID:25741868|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16151469|PMID:19503098|PMID:21345110|PMID:22155737|PMID:22920921|PMID:22968692 8705224 Alk ALK receptor tyrosine kinase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 8705224 Alk ALK receptor tyrosine kinase gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:1353820 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:1324 lung cancer ISO RGD:1353820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:20979473|PMID:21575866|PMID:22277784|PMID:24327273|PMID:24670165|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:1353820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:18923524|PMID:23104988|PMID:24728327|PMID:25741868|PMID:26580448|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:2769 tic disorder ISO RGD:1353820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Phonic tics PMID:32989326 8705224 Alk ALK receptor tyrosine kinase gene DOID:3247 rhabdomyosarcoma ISO RGD:1353820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:22184391 8705224 Alk ALK receptor tyrosine kinase gene DOID:3677 pulmonary plasma cell granuloma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21430068 8705224 Alk ALK receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1353820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:18923525|PMID:20979473|PMID:21030459|PMID:21575866|PMID:21791641|PMID:21838707|PMID:21948233|PMID:22072639|PMID:22235099|PMID:22277784|PMID:23344087|PMID:24327273|PMID:24670165 8705224 Alk ALK receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:1353820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:18923525|PMID:20979473|PMID:21030459|PMID:21575866|PMID:21791641|PMID:21838707|PMID:21948233|PMID:22072639|PMID:22235099|PMID:22277784|PMID:23344087|PMID:24327273|PMID:24670165|PMID:26619011|PMID:27993330 8705224 Alk ALK receptor tyrosine kinase gene DOID:3948 adrenocortical carcinoma ISO RGD:1353820 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 8705224 Alk ALK receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22743654 8705224 Alk ALK receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1353820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8705224 Alk ALK receptor tyrosine kinase gene DOID:769 neuroblastoma ISO RGD:1353820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:18990089|PMID:21030459|PMID:21242967|PMID:2124297|PMID:21575866|PMID:21804922|PMID:21838707|PMID:21948233|PMID:21972109|PMID:22071890|PMID:22072639|PMID:22277784|PMID:22932897|PMID:23104988|PMID:23334666|PMID:24205241|PMID:24327273|PMID:24675991|PMID:25517749|PMID:25741868|PMID:26619011|PMID:26829053|PMID:27132509|PMID:28492532|PMID:28873162|PMID:29489754|PMID:30004444|PMID:30350464|PMID:30605844 8705224 Alk ALK receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22986231|PMID:22999080 8705224 Alk ALK receptor tyrosine kinase gene DOID:9004794 Granuloma, Plasma Cell ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20979472|PMID:21030459|PMID:22920921 8705224 Alk ALK receptor tyrosine kinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22277784 8705224 Alk ALK receptor tyrosine kinase gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22215853 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26503946|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28756644|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:9536098 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:9536098 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353820 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21637378|PMID:21804922|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22184391|PMID:22235099|PMID:22277784|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23344087|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24326041|PMID:24670165|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27930734|PMID:28185914|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30004444|PMID:30006516|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:32984025|PMID:33486679|PMID:33674381|PMID:33898318|PMID:36451132|PMID:9536098 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:1353820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22932897|PMID:23334666|PMID:24205241|PMID:25517749|PMID:25741868|PMID:26619011|PMID:26829053|PMID:28492532|PMID:28873162|PMID:29489754|PMID:30004444|PMID:30350464|PMID:30605844 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286764|PMID:23104988 8705224 Alk ALK receptor tyrosine kinase gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:1353820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:17576681|PMID:21838707|PMID:22072639|PMID:23104988|PMID:25741868|PMID:28492532|PMID:32984025|PMID:9536098 8705224 Alk ALK receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1353820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:21242967|PMID:21838707|PMID:22071890|PMID:22072639|PMID:22932897|PMID:23334666|PMID:25517749|PMID:25741868|PMID:26619011|PMID:26829053|PMID:28492532|PMID:28873162|PMID:29489754|PMID:30004444|PMID:30350464|PMID:30605844 8705224 Alk ALK receptor tyrosine kinase gene DOID:9009095 Neuroblastoma 3 ISO RGD:1353820 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:15517393|PMID:16199547|PMID:16880530|PMID:17576681|PMID:18724359|PMID:18923523|PMID:18923524|PMID:18923525|PMID:18990089|PMID:21030459|PMID:21242967|PMID:2124297|PMID:21575866|PMID:21637378|PMID:21804922|PMID:21838707|PMID:21948233|PMID:21972109|PMID:22071890|PMID:22072639|PMID:22086496|PMID:22277784|PMID:22932897|PMID:23104988|PMID:23334666|PMID:23555315|PMID:24033266|PMID:24129244|PMID:24205241|PMID:24326041|PMID:24327273|PMID:24675991|PMID:24728327|PMID:25054154|PMID:25517749|PMID:25589003|PMID:25640679|PMID:25714698|PMID:25741868|PMID:25801821|PMID:25874976|PMID:25979929|PMID:26002608|PMID:26554404|PMID:26580448|PMID:26619011|PMID:26689913|PMID:26696773|PMID:26829053|PMID:27132509|PMID:27153395|PMID:27179218|PMID:27285993|PMID:27930734|PMID:28185914|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29489754|PMID:29625052|PMID:29684080|PMID:30004444|PMID:30350464|PMID:30605844|PMID:30716324|PMID:30982079|PMID:30989433|PMID:31263571|PMID:32984025|PMID:32989326|PMID:33372952|PMID:33486679|PMID:33898318|PMID:36451132|PMID:9536098 8705224 Alk ALK receptor tyrosine kinase gene DOID:9009095 Neuroblastoma 3 susceptibility ISO RGD:1353820 D RGD:7240710 20190502 OMIM 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:5419 schizophrenia ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:630 genetic disease ISO RGD:1321531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8705257 Nfrkb nuclear factor related to kappaB binding protein gene DOID:9007661 Dwarfism ISO RGD:1321531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8705295 Rnf216 ring finger protein 216 gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:1604006 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:26822237|PMID:27626068 8705295 Rnf216 ring finger protein 216 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1604006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25558065 8705295 Rnf216 ring finger protein 216 gene DOID:0111587 Gordon Holmes syndrome ISO RGD:1604006 D RGD:7240710 20180130 OMIM 8705295 Rnf216 ring finger protein 216 gene DOID:0111587 Gordon Holmes syndrome ISO RGD:1604006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome PMID:11932290|PMID:23656588|PMID:25741868|PMID:25841028|PMID:28492532|PMID:32982993 8705295 Rnf216 ring finger protein 216 gene DOID:630 genetic disease ISO RGD:1604006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1604035 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:26740948|REF_RGD_ID:13463463 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:1059 intellectual disability ISO RGD:1604035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8705314 Samm50 SAMM50 sorting and assembly machinery component gene DOID:630 genetic disease ISO RGD:1604035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1604790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1604790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604790 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:182 calcinosis ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:2493 gastric antral vascular ectasia ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1604790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:16943371|PMID:17576681|PMID:18076099|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23172776|PMID:23220793|PMID:23869908|PMID:24033266|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:28135719|PMID:28492532|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30393977|PMID:30523342|PMID:30891747|PMID:30995915|PMID:31785789|PMID:32483926|PMID:34573280|PMID:34706368|PMID:9536098 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:630 genetic disease ISO RGD:1604790 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18076099|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:25741868|PMID:28492532|PMID:30891747|PMID:34706368 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:7736 retinal telangiectasia ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:9003025 Cerebroretinal Microangiopathy with Calcifications and Cysts ISO RGD:1604790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coats plus syndrome PMID:22267198|PMID:22387016|PMID:23220793|PMID:23869908|PMID:24033266|PMID:25182133|PMID:25741868|PMID:28492532|PMID:30891747 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1604790 D RGD:7240710 20190501 OMIM 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1604790 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 PMID:16199547|PMID:16943371|PMID:17576681|PMID:18076099|PMID:22267198|PMID:22387016|PMID:22532422|PMID:22899577|PMID:23869908|PMID:24033266|PMID:24115768|PMID:25182133|PMID:25197929|PMID:25741868|PMID:25843205|PMID:28492532|PMID:28864049|PMID:29111009|PMID:29146883|PMID:29228254|PMID:29481669|PMID:30523342|PMID:30891747|PMID:34573280|PMID:34706368|PMID:9536098 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1604790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive PMID:25741868 8705338 Ctc1 CST telomere replication complex component 1 gene DOID:936 brain disease ISO RGD:1604790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267198 8705375 Vmac vimentin type intermediate filament associated coiled-coil protein gene DOID:630 genetic disease ISO RGD:1606370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705394 Il10 interleukin 10 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 8705394 Il10 interleukin 10 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:8704212|REF_RGD_ID:11049460 8705394 Il10 interleukin 10 gene DOID:0050589 inflammatory bowel disease ISO RGD:735591 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:11121048|PMID:14657422|PMID:14657427|PMID:17576681|PMID:18550579|PMID:25741868|PMID:26193622|PMID:28492532|PMID:30290665|PMID:9536098 8705394 Il10 interleukin 10 gene DOID:0050589 inflammatory bowel disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:27468578|REF_RGD_ID:11534627 8705394 Il10 interleukin 10 gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:31062617|REF_RGD_ID:14975125 8705394 Il10 interleukin 10 gene DOID:0050827 rheumatic heart disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16043936|REF_RGD_ID:1598626 8705394 Il10 interleukin 10 gene DOID:0050848 obstructive sleep apnea ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22143914|REF_RGD_ID:11049492 8705394 Il10 interleukin 10 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17338814|REF_RGD_ID:8662972 8705394 Il10 interleukin 10 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (human) PMID:28157558|REF_RGD_ID:14975130 8705394 Il10 interleukin 10 gene DOID:0060180 colitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22461024|REF_RGD_ID:7771532 8705394 Il10 interleukin 10 gene DOID:0060180 colitis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21949848|REF_RGD_ID:7349385 8705394 Il10 interleukin 10 gene DOID:0060180 colitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19238344|PMID:21807089|PMID:22119709|PMID:24314293 8705394 Il10 interleukin 10 gene DOID:0060180 colitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23771723|REF_RGD_ID:7365024 8705394 Il10 interleukin 10 gene DOID:0060189 ileitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27580383 8705394 Il10 interleukin 10 gene DOID:0060496 respiratory allergy ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20583974|REF_RGD_ID:4140460 8705394 Il10 interleukin 10 gene DOID:0060500 drug allergy ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19222424|PMID:20485159 8705394 Il10 interleukin 10 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 8705394 Il10 interleukin 10 gene DOID:0060903 thrombosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12765335|REF_RGD_ID:1598469 8705394 Il10 interleukin 10 gene DOID:0070344 ocular tuberculosis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:22583692|REF_RGD_ID:7364832 8705394 Il10 interleukin 10 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22467659|REF_RGD_ID:7364834 8705394 Il10 interleukin 10 gene DOID:0080160 cytomegalovirus retinitis ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Murine Acquired Immunodeficiency Syndrome PMID:23415673|REF_RGD_ID:7364815 8705394 Il10 interleukin 10 gene DOID:0080178 mucositis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881642 8705394 Il10 interleukin 10 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with morbid obesity PMID:25894568|REF_RGD_ID:14975151 8705394 Il10 interleukin 10 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082A>G (rs1800896) (human) PMID:28852433|REF_RGD_ID:14975143 8705394 Il10 interleukin 10 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28493345|REF_RGD_ID:14975163 8705394 Il10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8705394 Il10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8705394 Il10 interleukin 10 gene DOID:0080600 COVID-19 ISO RGD:735591 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264|PMID:32161940 8705394 Il10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8705394 Il10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:9068941 20200625 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) PMID:32456948|REF_RGD_ID:30309957 8705394 Il10 interleukin 10 gene DOID:0080600 COVID-19 severity ISO RGD:735591 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|REF_RGD_ID:30310229 8705394 Il10 interleukin 10 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8705394 Il10 interleukin 10 gene DOID:0081120 Graves ophthalmopathy ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-819C>T (human) PMID:21067483|REF_RGD_ID:7364859 8705394 Il10 interleukin 10 gene DOID:0081120 Graves ophthalmopathy ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11753760|REF_RGD_ID:7365083 8705394 Il10 interleukin 10 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8705394 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease ISO RGD:735591 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Graft-versus-host disease, resistance to | ClinVar Annotator: match by term: Graft-versus-host disease, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:18550579|PMID:25741868|PMID:28492532 8705394 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800872 (human) PMID:19409109|REF_RGD_ID:11046269 8705394 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:20195716|REF_RGD_ID:11049177 8705394 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:9808588|REF_RGD_ID:2316565 8705394 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:735591 D RGD:7240710 20240320 OMIM 8705394 Il10 interleukin 10 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:25034146|REF_RGD_ID:11041897 8705394 Il10 interleukin 10 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:735591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8705394 Il10 interleukin 10 gene DOID:10140 dry eye syndrome ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;protein:increased expression:tear PMID:23752063|REF_RGD_ID:7364807 8705394 Il10 interleukin 10 gene DOID:1024 leprosy ISO RGD:735591 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:28492532 8705394 Il10 interleukin 10 gene DOID:10247 pleurisy ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 8705394 Il10 interleukin 10 gene DOID:104 bacterial infectious disease ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Otitis Media PMID:22668804|REF_RGD_ID:7364828 8705394 Il10 interleukin 10 gene DOID:10459 common cold ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20696083|REF_RGD_ID:4140458 8705394 Il10 interleukin 10 gene DOID:10533 viral pneumonia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:25219125|REF_RGD_ID:10450576 8705394 Il10 interleukin 10 gene DOID:10534 stomach cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 8705394 Il10 interleukin 10 gene DOID:10534 stomach cancer ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-819C>T (rs1800871) (human) PMID:28002581|REF_RGD_ID:14975135 8705394 Il10 interleukin 10 gene DOID:10608 celiac disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:27545437|REF_RGD_ID:14975156 8705394 Il10 interleukin 10 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735591 D RGD:9068941 20200806 RGD DNA:SNPs,haplotype: -1082G>A, -819T>C, -592C>A (human) PMID:14746878|REF_RGD_ID:1358665 8705394 Il10 interleukin 10 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:21803105|REF_RGD_ID:7364841 8705394 Il10 interleukin 10 gene DOID:1067 open-angle glaucoma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23788371|REF_RGD_ID:7364852 8705394 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:18771082|REF_RGD_ID:7365029 8705394 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Haemophilus Infections PMID:18524391|REF_RGD_ID:4891398 8705394 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear PMID:14500471|REF_RGD_ID:7365082 8705394 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;protein:increased expression:middle ear, serum PMID:23404508|REF_RGD_ID:7364816 8705394 Il10 interleukin 10 gene DOID:10754 otitis media ISO RGD:735591 D RGD:9068941 20200609 RGD associated with respiratory syncytial virus infectious disease, associated with common cold;DNA:SNPs, haplotypes:promoter:-1082G>A, -819T>C, -592A>C (human) PMID:18560870|REF_RGD_ID:7365038 8705394 Il10 interleukin 10 gene DOID:10754 otitis media susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:17908769|REF_RGD_ID:7365054 8705394 Il10 interleukin 10 gene DOID:10763 hypertension ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:19398662|REF_RGD_ID:2311047 8705394 Il10 interleukin 10 gene DOID:10923 sickle cell anemia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:24281564|REF_RGD_ID:11046271 8705394 Il10 interleukin 10 gene DOID:11168 anogenital venereal wart ISO RGD:735591 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 8705394 Il10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:19060266|REF_RGD_ID:7365027 8705394 Il10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22092652|REF_RGD_ID:7364837 8705394 Il10 interleukin 10 gene DOID:11204 allergic conjunctivitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:15144463|REF_RGD_ID:7365076 8705394 Il10 interleukin 10 gene DOID:11204 allergic conjunctivitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:16914468|REF_RGD_ID:11041889 8705394 Il10 interleukin 10 gene DOID:11247 disseminated intravascular coagulation ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16613997|REF_RGD_ID:11049462 8705394 Il10 interleukin 10 gene DOID:11265 trachoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−1082G>A (human) PMID:11023480|REF_RGD_ID:7365085 8705394 Il10 interleukin 10 gene DOID:11265 trachoma ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:18628987|REF_RGD_ID:7365037 8705394 Il10 interleukin 10 gene DOID:11265 trachoma no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−819T>C, −592A>C (human) PMID:11023480|REF_RGD_ID:7365085 8705394 Il10 interleukin 10 gene DOID:11265 trachoma severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:−1082G>A (human) PMID:15789056|REF_RGD_ID:7365072 8705394 Il10 interleukin 10 gene DOID:11265 trachoma severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:17947295|REF_RGD_ID:7365053 8705394 Il10 interleukin 10 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22037734|REF_RGD_ID:11049486 8705394 Il10 interleukin 10 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22173123|REF_RGD_ID:7364836 8705394 Il10 interleukin 10 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Constriction, Pathologic PMID:22889616|REF_RGD_ID:7364826 8705394 Il10 interleukin 10 gene DOID:11714 gestational diabetes ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18446686|REF_RGD_ID:2308947 8705394 Il10 interleukin 10 gene DOID:118 pericardial effusion severity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16360340|REF_RGD_ID:1598622 8705394 Il10 interleukin 10 gene DOID:12030 panuveitis ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Multifocal Choroiditis;DNA:SNP:intron: (rs2222202) (human) PMID:21357402|REF_RGD_ID:7364844 8705394 Il10 interleukin 10 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11838849|REF_RGD_ID:1580480 8705394 Il10 interleukin 10 gene DOID:12134 factor VIII deficiency treatment ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) PMID:20082647|REF_RGD_ID:11049183 8705394 Il10 interleukin 10 gene DOID:12236 primary biliary cholangitis ISO RGD:735591 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 8705394 Il10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:21424183|REF_RGD_ID:7364858 8705394 Il10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082A>G, -819C>T, -592C>A (human) PMID:19882211|REF_RGD_ID:7364862 8705394 Il10 interleukin 10 gene DOID:12361 Graves' disease ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19250272|REF_RGD_ID:7365026 8705394 Il10 interleukin 10 gene DOID:12361 Graves' disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:multiple PMID:15497451|REF_RGD_ID:7365074 8705394 Il10 interleukin 10 gene DOID:12385 shigellosis treatment ISO RGD:10785 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 8705394 Il10 interleukin 10 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20209309|REF_RGD_ID:4140425 8705394 Il10 interleukin 10 gene DOID:12732 intermediate uveitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:21850175|REF_RGD_ID:7364840 8705394 Il10 interleukin 10 gene DOID:12849 autistic disorder ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8705394 Il10 interleukin 10 gene DOID:12894 Sjogren's syndrome ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:12233881|REF_RGD_ID:1580479 8705394 Il10 interleukin 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:19242323|REF_RGD_ID:2311057 8705394 Il10 interleukin 10 gene DOID:13001 carotid stenosis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16804000|REF_RGD_ID:1598483 8705394 Il10 interleukin 10 gene DOID:13025 retinopathy of prematurity ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:19700197|REF_RGD_ID:7364863 8705394 Il10 interleukin 10 gene DOID:13141 uveitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, :rs2222202, rs3024490, rs6703630 (human) PMID:20335604|REF_RGD_ID:7364845 8705394 Il10 interleukin 10 gene DOID:13141 uveitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10865312|REF_RGD_ID:7365086 8705394 Il10 interleukin 10 gene DOID:13241 Behcet's disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20622878|PMID:20622879 8705394 Il10 interleukin 10 gene DOID:13241 Behcet's disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, serum PMID:29719061|REF_RGD_ID:14975149 8705394 Il10 interleukin 10 gene DOID:13241 Behcet's disease disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15980236|REF_RGD_ID:1598628 8705394 Il10 interleukin 10 gene DOID:13241 Behcet's disease onset ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26654556|REF_RGD_ID:14975256 8705394 Il10 interleukin 10 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (rs1800872) (human) PMID:29294320|REF_RGD_ID:14975131 8705394 Il10 interleukin 10 gene DOID:13241 Behcet's disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:21506890|REF_RGD_ID:7364843 8705394 Il10 interleukin 10 gene DOID:13636 Fanconi anemia ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24021704|REF_RGD_ID:11049161 8705394 Il10 interleukin 10 gene DOID:1380 endometrial cancer ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9119882|REF_RGD_ID:2317659 8705394 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:7593621|REF_RGD_ID:11049456 8705394 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:12117955|REF_RGD_ID:1598471 8705394 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome ISO RGD:735591 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:25403265|REF_RGD_ID:38455982 8705394 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome onset ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12117955|REF_RGD_ID:1598471 8705394 Il10 interleukin 10 gene DOID:14115 toxic shock syndrome severity ISO RGD:10785 D RGD:9068941 20201211 RGD protein:increased expression:lung (mouse) PMID:28659355|REF_RGD_ID:40890272 8705394 Il10 interleukin 10 gene DOID:1417 choroid disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs6703630 (human) PMID:21357402|REF_RGD_ID:7364844 8705394 Il10 interleukin 10 gene DOID:1459 hypothyroidism ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24534949|REF_RGD_ID:11049472 8705394 Il10 interleukin 10 gene DOID:1459 hypothyroidism treatment ISO RGD:2886 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 8705394 Il10 interleukin 10 gene DOID:14654 prostatitis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland, serum PMID:19213347|REF_RGD_ID:2311058 8705394 Il10 interleukin 10 gene DOID:14654 prostatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12050565 8705394 Il10 interleukin 10 gene DOID:1470 major depressive disorder ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNPs, haplotype:promoter:-592C>A, -���819C>T, -1082G>A (human) PMID:30734130|REF_RGD_ID:14975122 8705394 Il10 interleukin 10 gene DOID:1474 aggressive periodontitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:28662328|REF_RGD_ID:14975139 8705394 Il10 interleukin 10 gene DOID:1474 aggressive periodontitis ISO RGD:735591 D RGD:9068941 20200609 RGD protien:decreased expression:plasma PMID:28868949|REF_RGD_ID:14975264 8705394 Il10 interleukin 10 gene DOID:1540 parathyroid carcinoma ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8705394 Il10 interleukin 10 gene DOID:1574 alcohol use disorder ISO RGD:2886 D RGD:9068941 20240120 RGD mRNA:increased expression:liver PMID:22269225|REF_RGD_ID:401959317 8705394 Il10 interleukin 10 gene DOID:1580 diffuse scleroderma ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9034992|REF_RGD_ID:5684371 8705394 Il10 interleukin 10 gene DOID:1588 thrombocytopenia ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11091188|REF_RGD_ID:11049172 8705394 Il10 interleukin 10 gene DOID:1588 thrombocytopenia severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Malaria, Vivax PMID:25128199|REF_RGD_ID:11041893 8705394 Il10 interleukin 10 gene DOID:1754 mitral valve stenosis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16155388|REF_RGD_ID:1598624 8705394 Il10 interleukin 10 gene DOID:1793 pancreatic cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 8705394 Il10 interleukin 10 gene DOID:1793 pancreatic cancer ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17235586|REF_RGD_ID:2317655 8705394 Il10 interleukin 10 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30304975|REF_RGD_ID:14975257 8705394 Il10 interleukin 10 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1082G>A (human) PMID:19250218|REF_RGD_ID:2317653 8705394 Il10 interleukin 10 gene DOID:1883 hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:28340949|REF_RGD_ID:14975144 8705394 Il10 interleukin 10 gene DOID:1883 hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19302182|REF_RGD_ID:2308942 8705394 Il10 interleukin 10 gene DOID:1883 hepatitis C no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1800896 (human) PMID:28340949|REF_RGD_ID:14975144 8705394 Il10 interleukin 10 gene DOID:1936 atherosclerosis treatment ISO RGD:10785 D RGD:9068941 20230930 RGD PMID:29593532|REF_RGD_ID:401827839 8705394 Il10 interleukin 10 gene DOID:2043 hepatitis B no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-592C>A (rs1800872), -819C>A (rs1800871) (human) PMID:27644568|REF_RGD_ID:14975150 8705394 Il10 interleukin 10 gene DOID:2043 hepatitis B treatment ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:-1082G>A (rs1800896) (human) PMID:27644568|REF_RGD_ID:14975150 8705394 Il10 interleukin 10 gene DOID:2048 autoimmune hepatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 8705394 Il10 interleukin 10 gene DOID:219 colon cancer ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:27468578|REF_RGD_ID:11534627 8705394 Il10 interleukin 10 gene DOID:219 colon cancer no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:27468578|REF_RGD_ID:11534627 8705394 Il10 interleukin 10 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24053818|REF_RGD_ID:7364868 8705394 Il10 interleukin 10 gene DOID:2349 arteriosclerosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12765335|REF_RGD_ID:1598469 8705394 Il10 interleukin 10 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16523426|REF_RGD_ID:1598477 8705394 Il10 interleukin 10 gene DOID:2355 anemia severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Malaria;protein:decreased expression:plasma PMID:9635949|REF_RGD_ID:11049182 8705394 Il10 interleukin 10 gene DOID:2377 multiple sclerosis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 8705394 Il10 interleukin 10 gene DOID:2394 ovarian cancer ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9166545|REF_RGD_ID:2317660 8705394 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20237464|PMID:20644177|REF_RGD_ID:4140459|REF_RGD_ID:4140471 8705394 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:2515 D RGD:9068941 20200609 RGD PMID:20560982|REF_RGD_ID:5131623 8705394 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20230687|REF_RGD_ID:4140421 8705394 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29317916 8705394 Il10 interleukin 10 gene DOID:2841 asthma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20121766|REF_RGD_ID:4140451 8705394 Il10 interleukin 10 gene DOID:2841 asthma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphism: :-627C>A (human) PMID:12938145|REF_RGD_ID:4143221 8705394 Il10 interleukin 10 gene DOID:2841 asthma treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:21998459|REF_RGD_ID:11046261 8705394 Il10 interleukin 10 gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (human) PMID:15718915|REF_RGD_ID:11049178 8705394 Il10 interleukin 10 gene DOID:2862 glucosephosphate dehydrogenase deficiency no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082G>A, -819T>C (human) PMID:15718915|REF_RGD_ID:11049178 8705394 Il10 interleukin 10 gene DOID:289 endometriosis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 8705394 Il10 interleukin 10 gene DOID:289 endometriosis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21665488|REF_RGD_ID:11049494 8705394 Il10 interleukin 10 gene DOID:2913 acute pancreatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:27173345|REF_RGD_ID:14975140 8705394 Il10 interleukin 10 gene DOID:2913 acute pancreatitis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter: -819T>C (human) PMID:27173345|REF_RGD_ID:14975140 8705394 Il10 interleukin 10 gene DOID:2921 glomerulonephritis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440 8705394 Il10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8705394 Il10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:2886 D RGD:9068941 20200702 RGD protein:increased expression:serum, bronchoalveolar Lavage fluid (rat) PMID:16409721|REF_RGD_ID:32726073 8705394 Il10 interleukin 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:735591 D RGD:9068941 20200702 RGD PMID:15865221|REF_RGD_ID:33769580 8705394 Il10 interleukin 10 gene DOID:3021 acute kidney failure ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18460982 8705394 Il10 interleukin 10 gene DOID:3042 allergic contact dermatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15347381 8705394 Il10 interleukin 10 gene DOID:3042 allergic contact dermatitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23760007|REF_RGD_ID:7364806 8705394 Il10 interleukin 10 gene DOID:3070 high grade glioma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP: :rs1800896 (human) PMID:20406895|REF_RGD_ID:4140470 8705394 Il10 interleukin 10 gene DOID:3229 gastric dilatation ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:30249047|REF_RGD_ID:14975138 8705394 Il10 interleukin 10 gene DOID:3234 central nervous system lymphoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:22628023|REF_RGD_ID:7364831 8705394 Il10 interleukin 10 gene DOID:3310 atopic dermatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 8705394 Il10 interleukin 10 gene DOID:3310 atopic dermatitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23843958|REF_RGD_ID:7364805 8705394 Il10 interleukin 10 gene DOID:3393 coronary artery disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16460885|REF_RGD_ID:1598621 8705394 Il10 interleukin 10 gene DOID:3393 coronary artery disease no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-592C>A (rs1800872), -819C>T (rs1800871) (human) PMID:29525679|REF_RGD_ID:14975129 8705394 Il10 interleukin 10 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082A>G (rs1800896) (human) PMID:29525679|REF_RGD_ID:14975129 8705394 Il10 interleukin 10 gene DOID:3407 carotid artery disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16801669|REF_RGD_ID:1598484 8705394 Il10 interleukin 10 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:10785 D RGD:9068941 20230330 RGD PMID:28630232|REF_RGD_ID:242905192 8705394 Il10 interleukin 10 gene DOID:3526 cerebral infarction treatment ISO RGD:10785 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 8705394 Il10 interleukin 10 gene DOID:3571 liver cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 8705394 Il10 interleukin 10 gene DOID:3602 toxic encephalopathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23916895|REF_RGD_ID:7364985 8705394 Il10 interleukin 10 gene DOID:37 skin disease severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning PMID:21357384|REF_RGD_ID:7364846 8705394 Il10 interleukin 10 gene DOID:37 skin disease susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning;DNA:SNP:promoter:−3575T>A (human) PMID:21357384|REF_RGD_ID:7364846 8705394 Il10 interleukin 10 gene DOID:3721 plasmacytoma ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:26140236|REF_RGD_ID:11049175 8705394 Il10 interleukin 10 gene DOID:3825 Shwartzman phenomenon ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:7593621|REF_RGD_ID:11049456 8705394 Il10 interleukin 10 gene DOID:3904 bronchus carcinoma ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8030748|REF_RGD_ID:4143231 8705394 Il10 interleukin 10 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 8705394 Il10 interleukin 10 gene DOID:4362 cervical cancer disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9541628|REF_RGD_ID:2317658 8705394 Il10 interleukin 10 gene DOID:4404 occupational dermatitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29477354 8705394 Il10 interleukin 10 gene DOID:4481 allergic rhinitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23883806|REF_RGD_ID:7364793 8705394 Il10 interleukin 10 gene DOID:4481 allergic rhinitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23253209|REF_RGD_ID:7364818 8705394 Il10 interleukin 10 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23826305|REF_RGD_ID:7365004 8705394 Il10 interleukin 10 gene DOID:4947 cholangiocarcinoma ISO RGD:735591 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:11121048|PMID:14657422|PMID:14657427|PMID:18550579|PMID:28492532 8705394 Il10 interleukin 10 gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Cholelithiasis PMID:19065724|REF_RGD_ID:2317654 8705394 Il10 interleukin 10 gene DOID:4989 pancreatitis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19399939|REF_RGD_ID:2306925 8705394 Il10 interleukin 10 gene DOID:5041 esophageal cancer treatment ISO RGD:735591 D RGD:9068941 20220715 RGD PMID:26603620|REF_RGD_ID:152998997 8705394 Il10 interleukin 10 gene DOID:5082 liver cirrhosis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) PMID:26909998|REF_RGD_ID:14975152 8705394 Il10 interleukin 10 gene DOID:5082 liver cirrhosis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:26909998|REF_RGD_ID:14975152 8705394 Il10 interleukin 10 gene DOID:5082 liver cirrhosis no_association ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-1082 G>A (human) PMID:27660094|REF_RGD_ID:14975134 8705394 Il10 interleukin 10 gene DOID:5082 liver cirrhosis severity ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-592C>A (human) PMID:27660094|REF_RGD_ID:14975134 8705394 Il10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735591 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:18550579|PMID:25741868|PMID:28492532 8705394 Il10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:735591 D RGD:7240710 20240320 OMIM 8705394 Il10 interleukin 10 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:10666520|REF_RGD_ID:7365087 8705394 Il10 interleukin 10 gene DOID:5419 schizophrenia ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11922883|REF_RGD_ID:1580481 8705394 Il10 interleukin 10 gene DOID:552 pneumonia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:20595152|REF_RGD_ID:4140400 8705394 Il10 interleukin 10 gene DOID:5679 retinal disease ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:21273540|REF_RGD_ID:7364850 8705394 Il10 interleukin 10 gene DOID:5679 retinal disease treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23720065|REF_RGD_ID:7364808 8705394 Il10 interleukin 10 gene DOID:5844 myocardial infarction ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 8705394 Il10 interleukin 10 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15466015|REF_RGD_ID:1598480 8705394 Il10 interleukin 10 gene DOID:6000 congestive heart failure ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:28939262|REF_RGD_ID:14975271 8705394 Il10 interleukin 10 gene DOID:6000 congestive heart failure disease_progression ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cardiac ventricle (rat) PMID:16461369|REF_RGD_ID:1598465 8705394 Il10 interleukin 10 gene DOID:6000 congestive heart failure treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23778495|REF_RGD_ID:7365020 8705394 Il10 interleukin 10 gene DOID:630 genetic disease ISO RGD:735591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8705394 Il10 interleukin 10 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20713898|REF_RGD_ID:4142530 8705394 Il10 interleukin 10 gene DOID:684 hepatocellular carcinoma ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26890368|REF_RGD_ID:14975171 8705394 Il10 interleukin 10 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23822114|REF_RGD_ID:7365006 8705394 Il10 interleukin 10 gene DOID:686 liver carcinoma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:28763918|REF_RGD_ID:14975157 8705394 Il10 interleukin 10 gene DOID:7148 rheumatoid arthritis ISO RGD:735591 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of PMID:12847677|PMID:25741868|PMID:28492532 8705394 Il10 interleukin 10 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:735591 D RGD:7240710 20240320 OMIM 8705394 Il10 interleukin 10 gene DOID:718 autoimmune hemolytic anemia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:12093879|REF_RGD_ID:11049457 8705394 Il10 interleukin 10 gene DOID:7693 abdominal aortic aneurysm ISO RGD:2886 D RGD:9068941 20201002 RGD protein:decreased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 8705394 Il10 interleukin 10 gene DOID:7997 thyrotoxicosis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19343192|REF_RGD_ID:2311054 8705394 Il10 interleukin 10 gene DOID:7998 hyperthyroidism ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Graves Disease PMID:21474590|REF_RGD_ID:7364857 8705394 Il10 interleukin 10 gene DOID:7998 hyperthyroidism ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24534949|REF_RGD_ID:11049472 8705394 Il10 interleukin 10 gene DOID:820 myocarditis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:17042978|REF_RGD_ID:1598481 8705394 Il10 interleukin 10 gene DOID:820 myocarditis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Coxsackievirus Infections PMID:21333491|REF_RGD_ID:7364847 8705394 Il10 interleukin 10 gene DOID:824 periodontitis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23843954|REF_RGD_ID:7364998 8705394 Il10 interleukin 10 gene DOID:824 periodontitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27795360|REF_RGD_ID:14975132 8705394 Il10 interleukin 10 gene DOID:824 periodontitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:30405072|REF_RGD_ID:14975259 8705394 Il10 interleukin 10 gene DOID:8337 appendicitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367942 8705394 Il10 interleukin 10 gene DOID:8437 intestinal obstruction ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19377777|REF_RGD_ID:2311052 8705394 Il10 interleukin 10 gene DOID:8483 retinal artery occlusion susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:17438520|REF_RGD_ID:7365056 8705394 Il10 interleukin 10 gene DOID:850 lung disease ISO RGD:2886 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:19386070|REF_RGD_ID:2311048 8705394 Il10 interleukin 10 gene DOID:850 lung disease ISO RGD:2886 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury;protein:increased expression:lung PMID:20663303|REF_RGD_ID:4140396 8705394 Il10 interleukin 10 gene DOID:850 lung disease ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:20622590|REF_RGD_ID:4140398 8705394 Il10 interleukin 10 gene DOID:850 lung disease ISO RGD:735591 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: PMID:24292748|REF_RGD_ID:36947872 8705394 Il10 interleukin 10 gene DOID:8536 herpes zoster ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:: PMID:21954956|REF_RGD_ID:8663478 8705394 Il10 interleukin 10 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20305143|REF_RGD_ID:11049154 8705394 Il10 interleukin 10 gene DOID:8564 lip cancer ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26723902|REF_RGD_ID:14975265 8705394 Il10 interleukin 10 gene DOID:8567 Hodgkin's lymphoma treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:21466366|REF_RGD_ID:11049168 8705394 Il10 interleukin 10 gene DOID:8577 ulcerative colitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18836448|PMID:20228799 8705394 Il10 interleukin 10 gene DOID:8577 ulcerative colitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26660358|PMID:28120341|REF_RGD_ID:14975153|REF_RGD_ID:14975255 8705394 Il10 interleukin 10 gene DOID:865 vasculitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16504995|REF_RGD_ID:1598487 8705394 Il10 interleukin 10 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22450025|REF_RGD_ID:11049491 8705394 Il10 interleukin 10 gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23783008|REF_RGD_ID:7365018 8705394 Il10 interleukin 10 gene DOID:8717 decubitus ulcer ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:26177082|REF_RGD_ID:11049489 8705394 Il10 interleukin 10 gene DOID:874 bacterial pneumonia severity ISO RGD:10785 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 8705394 Il10 interleukin 10 gene DOID:8778 Crohn's disease ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:29899181|REF_RGD_ID:14975133 8705394 Il10 interleukin 10 gene DOID:8778 Crohn's disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 8705394 Il10 interleukin 10 gene DOID:8778 Crohn's disease treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:11113068|REF_RGD_ID:11049181 8705394 Il10 interleukin 10 gene DOID:8893 psoriasis onset ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (human) PMID:11298547|REF_RGD_ID:7829824 8705394 Il10 interleukin 10 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-627C>A (human) PMID:25051072|REF_RGD_ID:11041894 8705394 Il10 interleukin 10 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human) PMID:22677268|REF_RGD_ID:11046267 8705394 Il10 interleukin 10 gene DOID:893 Wilson disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 8705394 Il10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16696964|REF_RGD_ID:1598486 8705394 Il10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 8705394 Il10 interleukin 10 gene DOID:8947 diabetic retinopathy ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22105495|REF_RGD_ID:7364856 8705394 Il10 interleukin 10 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18988929|REF_RGD_ID:2307272 8705394 Il10 interleukin 10 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:29691718|REF_RGD_ID:14975124 8705394 Il10 interleukin 10 gene DOID:9000099 Experimental Colitis ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Helicobacter Infections PMID:16982822|REF_RGD_ID:11049170 8705394 Il10 interleukin 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27815529|REF_RGD_ID:14975260 8705394 Il10 interleukin 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2886 D RGD:9068941 20220623 RGD PMID:25727887|PMID:29572553|REF_RGD_ID:11049485|REF_RGD_ID:152995414 8705394 Il10 interleukin 10 gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:10785 D RGD:9068941 20230831 RGD PMID:28062499|REF_RGD_ID:329955458 8705394 Il10 interleukin 10 gene DOID:9000173 Eye Burns treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22553604|REF_RGD_ID:7364851 8705394 Il10 interleukin 10 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19222424 8705394 Il10 interleukin 10 gene DOID:9000656 Penetrating Wounds ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26101070|REF_RGD_ID:11049529 8705394 Il10 interleukin 10 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:20406594|REF_RGD_ID:4140467 8705394 Il10 interleukin 10 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23968122|REF_RGD_ID:11049496 8705394 Il10 interleukin 10 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23788042|REF_RGD_ID:7365012 8705394 Il10 interleukin 10 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26270535|REF_RGD_ID:11049527 8705394 Il10 interleukin 10 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:2886 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8705394 Il10 interleukin 10 gene DOID:9000945 Ventilator-Induced Lung Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22106021|PMID:23890086|REF_RGD_ID:11049495|REF_RGD_ID:7364989 8705394 Il10 interleukin 10 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16035616|REF_RGD_ID:1598627 8705394 Il10 interleukin 10 gene DOID:9000998 Brain Injuries ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8705394 Il10 interleukin 10 gene DOID:9000998 Brain Injuries severity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23075771|REF_RGD_ID:7364822 8705394 Il10 interleukin 10 gene DOID:9000998 Brain Injuries treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23971414|REF_RGD_ID:7364983 8705394 Il10 interleukin 10 gene DOID:9001004 Chronic Periodontitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human) PMID:31055876|REF_RGD_ID:14975127 8705394 Il10 interleukin 10 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:16903779|REF_RGD_ID:7365068 8705394 Il10 interleukin 10 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22802947|REF_RGD_ID:7364853 8705394 Il10 interleukin 10 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10785 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:22940620|REF_RGD_ID:7364825 8705394 Il10 interleukin 10 gene DOID:9001204 Dyspepsia ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-819C>A (rs1800871)(human) PMID:28965252|REF_RGD_ID:14975154 8705394 Il10 interleukin 10 gene DOID:9001204 Dyspepsia no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896)(human) PMID:28965252|REF_RGD_ID:14975154 8705394 Il10 interleukin 10 gene DOID:9001472 Nasal Polyps ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22462754|REF_RGD_ID:7364835 8705394 Il10 interleukin 10 gene DOID:9001488 Human Influenza susceptibility ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20200252|REF_RGD_ID:4140426 8705394 Il10 interleukin 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12632514|PMID:15362042|PMID:16097045|PMID:16126171|PMID:16539848|PMID:16552806|PMID:16609999|PMID:16688825|PMID:18251166 8705394 Il10 interleukin 10 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23980370|PMID:24993843|REF_RGD_ID:11049490|REF_RGD_ID:7364982 8705394 Il10 interleukin 10 gene DOID:9001600 Wounds and Injuries ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:14715528|REF_RGD_ID:1598466 8705394 Il10 interleukin 10 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum, lymph PMID:19160132|REF_RGD_ID:2311060 8705394 Il10 interleukin 10 gene DOID:9001981 Weight Loss ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:24314293|PMID:27580383 8705394 Il10 interleukin 10 gene DOID:9001995 Actinic Cheilitis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:26723902|REF_RGD_ID:14975265 8705394 Il10 interleukin 10 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21911118|REF_RGD_ID:7364839 8705394 Il10 interleukin 10 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) PMID:19031431|REF_RGD_ID:2308943 8705394 Il10 interleukin 10 gene DOID:9002211 Hyperalgesia ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:23957449|REF_RGD_ID:7364792 8705394 Il10 interleukin 10 gene DOID:9002211 Hyperalgesia ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17174526|PMID:7582491 8705394 Il10 interleukin 10 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22820166|REF_RGD_ID:7364827 8705394 Il10 interleukin 10 gene DOID:9002211 Hyperalgesia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:24077211|REF_RGD_ID:7364865 8705394 Il10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human) PMID:19573080|REF_RGD_ID:11049165 8705394 Il10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22945689|REF_RGD_ID:11041895 8705394 Il10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10638947|REF_RGD_ID:11049174 8705394 Il10 interleukin 10 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 8705394 Il10 interleukin 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284379|PMID:17999153|PMID:18174250 8705394 Il10 interleukin 10 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2886 D RGD:9068941 20200910 RGD PMID:19907173|REF_RGD_ID:13702882 8705394 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:19193354|REF_RGD_ID:2311059 8705394 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:19169271|REF_RGD_ID:8662976 8705394 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20974942|PMID:22450443 8705394 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15270736|REF_RGD_ID:1626677 8705394 Il10 interleukin 10 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22052031|PMID:23140046|REF_RGD_ID:7193038|REF_RGD_ID:7364838 8705394 Il10 interleukin 10 gene DOID:9002720 Splenomegaly ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:19060266|REF_RGD_ID:7365027 8705394 Il10 interleukin 10 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23872438|REF_RGD_ID:7364993 8705394 Il10 interleukin 10 gene DOID:9002805 Enterocolitis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17574631 8705394 Il10 interleukin 10 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 8705394 Il10 interleukin 10 gene DOID:9002906 Multiple Organ Failure ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10479408 8705394 Il10 interleukin 10 gene DOID:9003610 Asthenopia ISO RGD:10785 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20415740|REF_RGD_ID:7364861 8705394 Il10 interleukin 10 gene DOID:9003688 Toxoplasma Chorioretinitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−1082G>A (human) PMID:18436829|REF_RGD_ID:7365046 8705394 Il10 interleukin 10 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16807647|REF_RGD_ID:1598472 8705394 Il10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:12388354|PMID:19514843|REF_RGD_ID:2308950|REF_RGD_ID:5508171 8705394 Il10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18460982 8705394 Il10 interleukin 10 gene DOID:9004009 Reperfusion Injury ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16141682|REF_RGD_ID:1598625 8705394 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592C>A (rs1800872) (human) PMID:29247709|REF_RGD_ID:14975141 8705394 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26095186|REF_RGD_ID:14700655 8705394 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter: rs3021094, rs3024498 (human) PMID:29247709|REF_RGD_ID:14975141 8705394 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:26095186|REF_RGD_ID:14700655 8705394 Il10 interleukin 10 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735591 D RGD:9068941 20200813 RGD PMID:25708446|REF_RGD_ID:38456002 8705394 Il10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22564629|REF_RGD_ID:7364833 8705394 Il10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23870834|REF_RGD_ID:7364994 8705394 Il10 interleukin 10 gene DOID:9004283 Transplant Rejection treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:17275523|REF_RGD_ID:11049523 8705394 Il10 interleukin 10 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:735591 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8705394 Il10 interleukin 10 gene DOID:9004422 Chagas Cardiomyopathy treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24055715|REF_RGD_ID:7364866 8705394 Il10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28108420|REF_RGD_ID:14975261 8705394 Il10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19371254|REF_RGD_ID:2311053 8705394 Il10 interleukin 10 gene DOID:9004484 Sepsis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11441115 8705394 Il10 interleukin 10 gene DOID:9004484 Sepsis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27488951|REF_RGD_ID:14975262 8705394 Il10 interleukin 10 gene DOID:9004484 Sepsis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24055021|REF_RGD_ID:7364867 8705394 Il10 interleukin 10 gene DOID:9004538 Hearing Loss treatment ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases PMID:21697956|REF_RGD_ID:7364842 8705394 Il10 interleukin 10 gene DOID:9004538 Hearing Loss treatment ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Meningitis, Pneumococcal PMID:22644021|REF_RGD_ID:7364829 8705394 Il10 interleukin 10 gene DOID:9004590 Acute Liver Failure ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) PMID:30109600|REF_RGD_ID:14975142 8705394 Il10 interleukin 10 gene DOID:9004610 Acute Lung Injury ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:lung, plasma PMID:23801594|REF_RGD_ID:7365008 8705394 Il10 interleukin 10 gene DOID:9004610 Acute Lung Injury ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) PMID:30412745|REF_RGD_ID:14975158 8705394 Il10 interleukin 10 gene DOID:9004610 Acute Lung Injury no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs3021097 (human) PMID:30412745|REF_RGD_ID:14975158 8705394 Il10 interleukin 10 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23902576|REF_RGD_ID:7364984 8705394 Il10 interleukin 10 gene DOID:9004649 Heat Stroke ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8705394 Il10 interleukin 10 gene DOID:9004932 Eales Disease ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter PMID:20720222|REF_RGD_ID:7364860 8705394 Il10 interleukin 10 gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:19026704|REF_RGD_ID:7365028 8705394 Il10 interleukin 10 gene DOID:9005172 Lung Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14587096 8705394 Il10 interleukin 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14999141 8705394 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:20304473|REF_RGD_ID:4140417 8705394 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:10785 D RGD:9068941 20200609 RGD associated with Pneumonia PMID:20357828|REF_RGD_ID:4140420 8705394 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23861957|REF_RGD_ID:7364996 8705394 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 8705394 Il10 interleukin 10 gene DOID:9005372 Inflammation ISO RGD:735591 D RGD:9068941 20200609 RGD associated with inflammatory bowel disease PMID:26802082|REF_RGD_ID:14975136 8705394 Il10 interleukin 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:18779928|REF_RGD_ID:2308946 8705394 Il10 interleukin 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increase expression:serum PMID:18787467|REF_RGD_ID:2308945 8705394 Il10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:18390724|REF_RGD_ID:7365052 8705394 Il10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression ISO RGD:2886 D RGD:9068941 20221222 RGD PMID:31209505|REF_RGD_ID:155791448 8705394 Il10 interleukin 10 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:16043105|PMID:18495789|REF_RGD_ID:7365044|REF_RGD_ID:7365069 8705394 Il10 interleukin 10 gene DOID:9005700 Airway Obstruction susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:17690329|REF_RGD_ID:4142510 8705394 Il10 interleukin 10 gene DOID:9005930 Endotoxemia ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28664613|REF_RGD_ID:14975137 8705394 Il10 interleukin 10 gene DOID:9005930 Endotoxemia ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19302852|REF_RGD_ID:2311055 8705394 Il10 interleukin 10 gene DOID:9005930 Endotoxemia treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:27943364|REF_RGD_ID:14975170 8705394 Il10 interleukin 10 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 8705394 Il10 interleukin 10 gene DOID:9005941 Rhinosinusitis ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:blood, mononuclear cell PMID:23168151|REF_RGD_ID:7364820 8705394 Il10 interleukin 10 gene DOID:9005968 Neuralgia ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:16949747|REF_RGD_ID:1598632 8705394 Il10 interleukin 10 gene DOID:9005968 Neuralgia treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:25078297|REF_RGD_ID:11049468 8705394 Il10 interleukin 10 gene DOID:9005968 Neuralgia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:24077211|REF_RGD_ID:7364865 8705394 Il10 interleukin 10 gene DOID:9006205 Animal Disease Models ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27580383|PMID:28411859 8705394 Il10 interleukin 10 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:28664613|REF_RGD_ID:14975137 8705394 Il10 interleukin 10 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:24079335|REF_RGD_ID:7364864 8705394 Il10 interleukin 10 gene DOID:9006549 Enterovirus Infections severity ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-592A>C (rs1800872) (human) PMID:28843383|REF_RGD_ID:14975146 8705394 Il10 interleukin 10 gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23415673|REF_RGD_ID:7364815 8705394 Il10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:11359436|PMID:15240742|REF_RGD_ID:7365075|REF_RGD_ID:7365084 8705394 Il10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22629453|REF_RGD_ID:7364830 8705394 Il10 interleukin 10 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21296818|REF_RGD_ID:7364849 8705394 Il10 interleukin 10 gene DOID:9006644 Retroviridae Infections ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:11369878|REF_RGD_ID:11049463 8705394 Il10 interleukin 10 gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:21911153|REF_RGD_ID:11049478 8705394 Il10 interleukin 10 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735591 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 8705394 Il10 interleukin 10 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23843977|REF_RGD_ID:7247697 8705394 Il10 interleukin 10 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23878501|REF_RGD_ID:7364804 8705394 Il10 interleukin 10 gene DOID:9007096 Stroke ISO RGD:2886 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:23981596|REF_RGD_ID:7364869 8705394 Il10 interleukin 10 gene DOID:9007096 Stroke no_association ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:16323614|REF_RGD_ID:1598623 8705394 Il10 interleukin 10 gene DOID:9007096 Stroke severity ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:15894335|REF_RGD_ID:1598629 8705394 Il10 interleukin 10 gene DOID:9007096 Stroke treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23786953|REF_RGD_ID:7365015 8705394 Il10 interleukin 10 gene DOID:9007204 Dysbiosis treatment ISO RGD:2886 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 8705394 Il10 interleukin 10 gene DOID:9007329 Human Viral Hepatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human) PMID:30109600|REF_RGD_ID:14975142 8705394 Il10 interleukin 10 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:25323753|REF_RGD_ID:11049477 8705394 Il10 interleukin 10 gene DOID:9007651 Chronic Bronchitis ISO RGD:2886 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19507274|REF_RGD_ID:2308951 8705394 Il10 interleukin 10 gene DOID:9007730 Burns ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 8705394 Il10 interleukin 10 gene DOID:9007730 Burns treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:22341647|REF_RGD_ID:11049470 8705394 Il10 interleukin 10 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19275881|REF_RGD_ID:2311056 8705394 Il10 interleukin 10 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23840272|REF_RGD_ID:7365001 8705394 Il10 interleukin 10 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:30695099|REF_RGD_ID:14975123 8705394 Il10 interleukin 10 gene DOID:9008103 Seasonal Allergic Rhinitis treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:19505388|REF_RGD_ID:7365025 8705394 Il10 interleukin 10 gene DOID:9008208 Heparin-induced Thrombocytopenia ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:repeats, haplotype:promoter PMID:22239992|REF_RGD_ID:11049164 8705394 Il10 interleukin 10 gene DOID:9008208 Heparin-induced Thrombocytopenia no_association ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) PMID:22239992|REF_RGD_ID:11049164 8705394 Il10 interleukin 10 gene DOID:9008227 Pregnancy-associated Malaria ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:24717969|REF_RGD_ID:11041890 8705394 Il10 interleukin 10 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:735591 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:36108500 8705394 Il10 interleukin 10 gene DOID:9008763 Femoral Fractures ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 8705394 Il10 interleukin 10 gene DOID:9008865 Entamoebiasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 8705394 Il10 interleukin 10 gene DOID:9008885 Staphylococcal Infections treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:23993644|REF_RGD_ID:7364979 8705394 Il10 interleukin 10 gene DOID:9008939 Breast Neoplasms ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29582634 8705394 Il10 interleukin 10 gene DOID:9065 leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374|PMID:20404924 8705394 Il10 interleukin 10 gene DOID:9074 systemic lupus erythematosus ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:20728533 8705394 Il10 interleukin 10 gene DOID:9074 systemic lupus erythematosus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:12486603|REF_RGD_ID:1580478 8705394 Il10 interleukin 10 gene DOID:9111 cutaneous leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 8705394 Il10 interleukin 10 gene DOID:9111 cutaneous leishmaniasis ISO RGD:735591 D RGD:9068941 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: PMID:29205403|REF_RGD_ID:38455981 8705394 Il10 interleukin 10 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:23357299|REF_RGD_ID:11046264 8705394 Il10 interleukin 10 gene DOID:9146 visceral leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15716043|PMID:17404324|PMID:22461696 8705394 Il10 interleukin 10 gene DOID:9146 visceral leishmaniasis ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:29745990|REF_RGD_ID:14975172 8705394 Il10 interleukin 10 gene DOID:916 liver benign neoplasm treatment ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:25168696|REF_RGD_ID:11049493 8705394 Il10 interleukin 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8705394 Il10 interleukin 10 gene DOID:9351 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:22802947|REF_RGD_ID:7364853 8705394 Il10 interleukin 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 8705394 Il10 interleukin 10 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:g.-1082G>A, g.-819C>T, g.-592C>A (human) PMID:19031431|REF_RGD_ID:2308943 8705394 Il10 interleukin 10 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2886 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8705394 Il10 interleukin 10 gene DOID:9452 steatotic liver disease ISO RGD:2886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:18267346|REF_RGD_ID:2308948 8705394 Il10 interleukin 10 gene DOID:9478 postpartum depression ISO RGD:2886 D RGD:9068941 20200609 RGD PMID:17033197|REF_RGD_ID:1598630 8705394 Il10 interleukin 10 gene DOID:9498 pulmonary eosinophilia ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20796249|REF_RGD_ID:4140455 8705394 Il10 interleukin 10 gene DOID:9538 multiple myeloma ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP, polymorphisms:promoter:-1082G>A, (human) PMID:11307152|REF_RGD_ID:11041888 8705394 Il10 interleukin 10 gene DOID:9538 multiple myeloma disease_progression ISO RGD:735591 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11022130|REF_RGD_ID:11049458 8705394 Il10 interleukin 10 gene DOID:9663 aphthous stomatitis ISO RGD:735591 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1082G>A (rs1800896) (human) PMID:27266194|REF_RGD_ID:14975145 8705394 Il10 interleukin 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 8705394 Il10 interleukin 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:17997340|REF_RGD_ID:2308949 8705394 Il10 interleukin 10 gene DOID:9778 irritable bowel syndrome ISO RGD:735591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12404228 8705394 Il10 interleukin 10 gene DOID:9784 trichinosis ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:23465441|REF_RGD_ID:11049476 8705394 Il10 interleukin 10 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735591 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:21653647|REF_RGD_ID:11049158 8705394 Il10 interleukin 10 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:15860861|REF_RGD_ID:11049169 8705394 Il10 interleukin 10 gene DOID:9970 obesity ISO RGD:2886 D RGD:9068941 20200609 RGD protein:increase expression:serum PMID:18787467|REF_RGD_ID:2308945 8705394 Il10 interleukin 10 gene DOID:9970 obesity ISO RGD:735591 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 8705403 Rpap2 RNA polymerase II associated protein 2 gene DOID:630 genetic disease ISO RGD:1602679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705437 Cdca2 cell division cycle associated 2 gene DOID:0080600 COVID-19 ISO RGD:1322226 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8705437 Cdca2 cell division cycle associated 2 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1322226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 8705437 Cdca2 cell division cycle associated 2 gene DOID:2661 myoepithelioma ISO RGD:1322226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8705437 Cdca2 cell division cycle associated 2 gene DOID:630 genetic disease ISO RGD:1322226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705437 Cdca2 cell division cycle associated 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8705467 Alkbh3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:1059 intellectual disability ISO RGD:1606677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8705467 Alkbh3 alkB homolog 3, alpha-ketoglutarate dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1606677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705484 Ttc33 tetratricopeptide repeat domain 33 gene DOID:630 genetic disease ISO RGD:1606815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705484 Ttc33 tetratricopeptide repeat domain 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8705499 Znf180 zinc finger protein 180 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1348239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8705499 Znf180 zinc finger protein 180 gene DOID:630 genetic disease ISO RGD:1348239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705508 Pcdh10 protocadherin 10 gene DOID:12849 autistic disorder ISO RGD:1348202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 8705508 Pcdh10 protocadherin 10 gene DOID:630 genetic disease ISO RGD:1348202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705529 Tmem139 transmembrane protein 139 gene DOID:630 genetic disease ISO RGD:1602298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705529 Tmem139 transmembrane protein 139 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8705540 Nme8 NME/NM23 family member 8 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1344206 D RGD:7240710 20180130 OMIM 8705540 Nme8 NME/NM23 family member 8 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1344206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 6 | ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:16199547|PMID:17360648|PMID:17576681|PMID:20301301|PMID:22499950|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 8705540 Nme8 NME/NM23 family member 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8705540 Nme8 NME/NM23 family member 8 gene DOID:630 genetic disease ISO RGD:1344206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8705540 Nme8 NME/NM23 family member 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344206 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17360648|PMID:20301301|PMID:22499950|PMID:24033266|PMID:25741868|PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1318170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:0090104 Huntington's disease-like 2 ISO RGD:1318170 D RGD:7240710 20180130 OMIM 8705561 Jph3 junctophilin 3 gene DOID:0090104 Huntington's disease-like 2 ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Huntington disease-like 2 PMID:25741868|PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1318170 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8705561 Jph3 junctophilin 3 gene DOID:14780 KBG syndrome ISO RGD:1318170 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8705561 Jph3 junctophilin 3 gene DOID:630 genetic disease ISO RGD:1318170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 8705561 Jph3 junctophilin 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1318170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8705561 Jph3 junctophilin 3 gene DOID:9007980 Sleep Deprivation ISO RGD:1318171 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18077435|REF_RGD_ID:6480426 8705561 Jph3 junctophilin 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1347581 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1347581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8705570 Armcx4 armadillo repeat containing X-linked 4 gene DOID:12849 autistic disorder ISO RGD:1347581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8705583 Caskin2 CASK interacting protein 2 gene DOID:630 genetic disease ISO RGD:1320238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705616 Redic1 regulator of DNA class I crossover intermediates 1 gene DOID:0111910 spermatogenic failure ISO RGD:1606924 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 8705616 Redic1 regulator of DNA class I crossover intermediates 1 gene DOID:630 genetic disease ISO RGD:1606924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1621362 D RGD:9068941 20220825 MouseDO OMIM:202650 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:0110266 cataract 9 multiple types ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:1059 intellectual disability ISO RGD:1322626 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849|PMID:35298461 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:12583 velocardiofacial syndrome ISO RGD:1621362 D RGD:9068941 20220825 MouseDO OMIM:192430 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:12849 autistic disorder ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:37 skin disease ISO RGD:1322626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:630 genetic disease ISO RGD:1322626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322626 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9007964 Arsenic Poisoning ISO RGD:1322626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9008994 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY ISO RGD:1322626 D RGD:7240710 20230719 OMIM 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9008994 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY ISO RGD:1322626 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, short stature, and speech delay PMID:25741868|PMID:30167849|PMID:35298461 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9263 homocystinuria ISO RGD:1322626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8705649 Trappc10 trafficking protein particle complex subunit 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322626 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8705676 Mfsd14a major facilitator superfamily domain containing 14A gene DOID:630 genetic disease ISO RGD:1313218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705676 Mfsd14a major facilitator superfamily domain containing 14A gene DOID:9269 maple syrup urine disease ISO RGD:1313218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8705696 LOC102004828 olfactory receptor 2A12 gene DOID:630 genetic disease ISO RGD:1346557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705713 Chka choline kinase alpha gene DOID:0050912 colon adenoma ISO RGD:1604072 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:10363580|REF_RGD_ID:10401945 8705713 Chka choline kinase alpha gene DOID:0080016 spina bifida ISO RGD:1604072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17184542 8705713 Chka choline kinase alpha gene DOID:1059 intellectual disability ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:35202461 8705713 Chka choline kinase alpha gene DOID:10907 microcephaly ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:35202461 8705713 Chka choline kinase alpha gene DOID:1826 epilepsy ISO RGD:1604072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:35202461 8705713 Chka choline kinase alpha gene DOID:219 colon cancer ISO RGD:61944 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon (rat) PMID:10622531|REF_RGD_ID:10401869 8705713 Chka choline kinase alpha gene DOID:224 transient cerebral ischemia ISO RGD:61944 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:16300643|REF_RGD_ID:10401831 8705713 Chka choline kinase alpha gene DOID:630 genetic disease ISO RGD:1604072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705713 Chka choline kinase alpha gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8705713 Chka choline kinase alpha gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8705732 Tas2r3 taste 2 receptor member 3 gene DOID:0080690 RASopathy ISO RGD:1345631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8705732 Tas2r3 taste 2 receptor member 3 gene DOID:630 genetic disease ISO RGD:1345631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705732 Tas2r3 taste 2 receptor member 3 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1345631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 8705735 Rassf9 Ras association domain family member 9 gene DOID:630 genetic disease ISO RGD:731307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:5419 schizophrenia ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:630 genetic disease ISO RGD:1353529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1353529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9006549 Enterovirus Infections ISO RGD:1353529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 8705741 St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 gene DOID:9007661 Dwarfism ISO RGD:1353529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:5487050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:1826 epilepsy ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:1827 idiopathic generalized epilepsy ISO RGD:5487050 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:5487050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8705787 CUNH16orf96 chromosome unknown C16orf96 homolog gene DOID:630 genetic disease ISO RGD:5487050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705810 Cysrt1 cysteine rich tail 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8705810 Cysrt1 cysteine rich tail 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603334 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8705810 Cysrt1 cysteine rich tail 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8705810 Cysrt1 cysteine rich tail 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8705810 Cysrt1 cysteine rich tail 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8705810 Cysrt1 cysteine rich tail 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603334 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8705810 Cysrt1 cysteine rich tail 1 gene DOID:1826 epilepsy ISO RGD:1603334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8705810 Cysrt1 cysteine rich tail 1 gene DOID:630 genetic disease ISO RGD:1603334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705810 Cysrt1 cysteine rich tail 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226|PMID:9536098 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:731415 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:23647072|PMID:24133262|PMID:25741868|PMID:28492532|PMID:31440721|PMID:32725632|PMID:34136434|PMID:35874597|PMID:36307226 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731415 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226|PMID:9536098 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:1826 epilepsy ISO RGD:731415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:630 genetic disease ISO RGD:731415 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23647072|PMID:24133262|PMID:25741868|PMID:28492532|PMID:31440721|PMID:32725632|PMID:34136434|PMID:35874597|PMID:36307226 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:9002059 Developmental and Epileptic Encephalopathy 112 ISO RGD:731415 D RGD:7240710 20231018 OMIM 8705816 Kcnh5 potassium voltage-gated channel subfamily H member 5 gene DOID:9002059 Developmental and Epileptic Encephalopathy 112 ISO RGD:731415 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 112 PMID:23647072|PMID:24133262|PMID:25741868|PMID:28492532|PMID:31440721|PMID:32725632|PMID:35874597|PMID:36307226 8705831 Ccnf cyclin F gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 8705831 Ccnf cyclin F gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8705831 Ccnf cyclin F gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 86 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 8705831 Ccnf cyclin F gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 65 PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 8705831 Ccnf cyclin F gene DOID:1389 polyneuropathy ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 8705831 Ccnf cyclin F gene DOID:1826 epilepsy ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizures PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 8705831 Ccnf cyclin F gene DOID:1826 epilepsy ISO RGD:736837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8705831 Ccnf cyclin F gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8705831 Ccnf cyclin F gene DOID:308 early myoclonic encephalopathy ISO RGD:736837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 8705831 Ccnf cyclin F gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8705831 Ccnf cyclin F gene DOID:630 genetic disease ISO RGD:736837 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 8705831 Ccnf cyclin F gene DOID:684 hepatocellular carcinoma ISO RGD:736837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8705831 Ccnf cyclin F gene DOID:9005996 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 ISO RGD:736837 D RGD:7240710 20210113 OMIM 8705831 Ccnf cyclin F gene DOID:9005996 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 ISO RGD:736837 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 PMID:25741868|PMID:27080313|PMID:28281833|PMID:31577344 8705831 Ccnf cyclin F gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy PMID:22277662|PMID:24033266|PMID:24848745|PMID:25741868|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28301460|PMID:28492532|PMID:29358611 8705831 Ccnf cyclin F gene DOID:9255 frontotemporal dementia ISO RGD:736837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:630 genetic disease ISO RGD:1312078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705851 Igsf9 immunoglobulin superfamily member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1322871 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 8705892 Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 gene DOID:630 genetic disease ISO RGD:1322871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705951 Nup42 nucleoporin 42 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8705951 Nup42 nucleoporin 42 gene DOID:630 genetic disease ISO RGD:1344412 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705962 Sec11c SEC11 homolog C, signal peptidase complex subunit gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1348413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8705962 Sec11c SEC11 homolog C, signal peptidase complex subunit gene DOID:0111988 immunodeficiency 12 ISO RGD:1348413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8705962 Sec11c SEC11 homolog C, signal peptidase complex subunit gene DOID:630 genetic disease ISO RGD:1348413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705999 Znf74 zinc finger protein 74 gene DOID:0060041 autism spectrum disorder ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8705999 Znf74 zinc finger protein 74 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1353341 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8705999 Znf74 zinc finger protein 74 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1353341 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8705999 Znf74 zinc finger protein 74 gene DOID:1059 intellectual disability ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8705999 Znf74 zinc finger protein 74 gene DOID:11198 DiGeorge syndrome ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8705999 Znf74 zinc finger protein 74 gene DOID:11372 megacolon ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8705999 Znf74 zinc finger protein 74 gene DOID:12583 velocardiofacial syndrome ISO RGD:1353341 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8705999 Znf74 zinc finger protein 74 gene DOID:12849 autistic disorder ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8705999 Znf74 zinc finger protein 74 gene DOID:1826 epilepsy ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8705999 Znf74 zinc finger protein 74 gene DOID:2213 hemorrhagic disease ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8705999 Znf74 zinc finger protein 74 gene DOID:5419 schizophrenia ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8705999 Znf74 zinc finger protein 74 gene DOID:612 primary immunodeficiency disease ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8705999 Znf74 zinc finger protein 74 gene DOID:630 genetic disease ISO RGD:1353341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8705999 Znf74 zinc finger protein 74 gene DOID:9003871 Venous Thrombosis ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8705999 Znf74 zinc finger protein 74 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8706008 Gsap gamma-secretase activating protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8706008 Gsap gamma-secretase activating protein gene DOID:630 genetic disease ISO RGD:1604809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706008 Gsap gamma-secretase activating protein gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1604809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8706043 Ndufa3 NADH:ubiquinone oxidoreductase subunit A3 gene DOID:630 genetic disease ISO RGD:1323447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706064 Nalf2 NALCN channel auxiliary factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8706064 Nalf2 NALCN channel auxiliary factor 2 gene DOID:12849 autistic disorder ISO RGD:1350785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8706064 Nalf2 NALCN channel auxiliary factor 2 gene DOID:630 genetic disease ISO RGD:1350785 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706071 Cdca5 cell division cycle associated 5 gene DOID:0080600 COVID-19 ISO RGD:1350338 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8706071 Cdca5 cell division cycle associated 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8706071 Cdca5 cell division cycle associated 5 gene DOID:1059 intellectual disability ISO RGD:1350338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8706071 Cdca5 cell division cycle associated 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8706071 Cdca5 cell division cycle associated 5 gene DOID:2746 glycogen storage disease V ISO RGD:1350338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8706071 Cdca5 cell division cycle associated 5 gene DOID:3070 high grade glioma ISO RGD:1350338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8706071 Cdca5 cell division cycle associated 5 gene DOID:630 genetic disease ISO RGD:1350338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706071 Cdca5 cell division cycle associated 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1350338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8706098 Ccdc18 coiled-coil domain containing 18 gene DOID:630 genetic disease ISO RGD:1601798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15756637|PMID:17508018|PMID:19262603|PMID:20849526|PMID:25741868|PMID:28492532 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1312110 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15756637|PMID:17508018|PMID:17576681|PMID:17684380|PMID:19262603|PMID:20672373|PMID:20849526|PMID:22992804|PMID:25741868|PMID:26740202|PMID:28492532|PMID:28851938|PMID:30916489|PMID:31168818|PMID:31586585|PMID:32293521|PMID:32707200|PMID:9536098 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1312110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16675967 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1312110 D RGD:9068941 20200609 RGD PMID:12915478|REF_RGD_ID:1598548 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:7240710 20180130 OMIM 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060712 autosomal recessive congenital ichthyosis 4A ISO RGD:1312110 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A PMID:10094194|PMID:12915478|PMID:15756637|PMID:16902423|PMID:19262603|PMID:19664001|PMID:20672373|PMID:21729033|PMID:22257947|PMID:22992804|PMID:23528209|PMID:25741868|PMID:27025581|PMID:28295493|PMID:28492532|PMID:29722424|PMID:29880184|PMID:29887490|PMID:30600594|PMID:30916489|PMID:31168818|PMID:32293521|PMID:32707200|PMID:32851342|PMID:36980989|PMID:8845852 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:7240710 20180130 OMIM 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:1312110 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B PMID:15756637|PMID:16902423|PMID:17684380|PMID:19262603|PMID:19664001|PMID:20672373|PMID:25741868|PMID:26740202|PMID:28492532|PMID:28851938|PMID:29543227|PMID:29880184|PMID:30916489|PMID:31168818|PMID:31586585|PMID:32293521|PMID:34906502|PMID:35216886 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:1909 melanoma ISO RGD:1312110 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:630 genetic disease ISO RGD:1312110 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9002801 Recurrence ISO RGD:1312110 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1312110 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 8706130 Abca12 ATP binding cassette subfamily A member 12 gene DOID:936 brain disease ISO RGD:1312110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1605411 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22713656|REF_RGD_ID:9588601 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1605411 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:0111152 multicentric Castleman disease ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 8706190 Kmt2b lysine methyltransferase 2B gene DOID:10283 prostate cancer ISO RGD:1605411 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 8706190 Kmt2b lysine methyltransferase 2B gene DOID:1059 intellectual disability ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8706190 Kmt2b lysine methyltransferase 2B gene DOID:12849 autistic disorder ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8706190 Kmt2b lysine methyltransferase 2B gene DOID:13580 cholestasis ISO RGD:1623920 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:21330447|REF_RGD_ID:9588602 8706190 Kmt2b lysine methyltransferase 2B gene DOID:1612 breast cancer severity ISO RGD:1605411 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:24491801|REF_RGD_ID:9588564 8706190 Kmt2b lysine methyltransferase 2B gene DOID:543 dystonia ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362|PMID:33150406 8706190 Kmt2b lysine methyltransferase 2B gene DOID:630 genetic disease ISO RGD:1605411 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25405613|PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532|PMID:29758562|PMID:31216378|PMID:33150406 8706190 Kmt2b lysine methyltransferase 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1605411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634754 8706190 Kmt2b lysine methyltransferase 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1605411 D RGD:9068941 20200609 RGD DNA:insertions, translocations:intron:IVS3, multiple (human) PMID:18320596|REF_RGD_ID:9588597 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605411 D RGD:9068941 20211119 RGD associated with lung adenocarcinoma PMID:33291558|REF_RGD_ID:150429741 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1605411 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9001722 Dysarthria ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25741868|PMID:27992417|PMID:32581362 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9004049 Dystonia 28, Childhood-onset ISO RGD:1605411 D RGD:7240710 20190315 OMIM 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9004049 Dystonia 28, Childhood-onset ISO RGD:1605411 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dystonia 28, childhood-onset | ClinVar Annotator: match by term: KMT2B-related condition PMID:25741868|PMID:25741878|PMID:27839873|PMID:27992417|PMID:28492532|PMID:28520167|PMID:29697234|PMID:29758562|PMID:31216378|PMID:32581362|PMID:32860008|PMID:33098801|PMID:33150406|PMID:33619735 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9005196 Autosomal Dominant Intellectual Developmental Disorder 68 ISO RGD:1605411 D RGD:7240710 20220720 OMIM 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9005196 Autosomal Dominant Intellectual Developmental Disorder 68 ISO RGD:1605411 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 68 PMID:25741868 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1605411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741878 8706190 Kmt2b lysine methyltransferase 2B gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1623920 D RGD:9068941 20200609 RGD PMID:25079327|REF_RGD_ID:9588599 8706237 Tsc22d2 TSC22 domain family member 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:1602336 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8706237 Tsc22d2 TSC22 domain family member 2 gene DOID:10126 keratoconus ISO RGD:1602336 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Keratoconus 8706237 Tsc22d2 TSC22 domain family member 2 gene DOID:630 genetic disease ISO RGD:1602336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28341588|PMID:28492532|PMID:28578331|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29544605|PMID:30454721|PMID:30790397|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26688388|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28578331|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29343803|PMID:29396286|PMID:29544605|PMID:29606362|PMID:29759408|PMID:30177324|PMID:30454721|PMID:30790397|PMID:30847666|PMID:30885746|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31645976|PMID:31845994|PMID:31983221|PMID:32746448|PMID:32877757|PMID:32880476|PMID:33232181|PMID:33652588|PMID:33673806|PMID:33919104|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:18382419|PMID:18632414|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:23071725|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25087486|PMID:25172079|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26688388|PMID:26899768|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28283360|PMID:28323875|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28578331|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29343803|PMID:29396286|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:30129429|PMID:30177324|PMID:30454721|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:31019283|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31645976|PMID:31845994|PMID:31983221|PMID:32268277|PMID:32746448|PMID:32877757|PMID:32880476|PMID:33232181|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203|PMID:35819174|PMID:36138163 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ameliorates ISO RGD:1322447 D RGD:9068941 20231102 RGD PMID:32376797|REF_RGD_ID:401851071 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy severity ISO RGD:1322446 D RGD:9068941 20231102 RGD PMID:30239670|REF_RGD_ID:401851076 8706244 Dsg2 desmoglein 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy susceptibility ISO RGD:1322446 D RGD:9068941 20231102 RGD DNA:mutation:cds: p.Phe531Cys(human) PMID:30454721|REF_RGD_ID:401851081 8706244 Dsg2 desmoglein 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1322446 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:25741868|PMID:28492532|PMID:29773157|PMID:31983221|PMID:32826072|PMID:33652588 8706244 Dsg2 desmoglein 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28166811|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29773157|PMID:29802319|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:33087929|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26822237|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29456632|PMID:29773157|PMID:29802319|PMID:30391969|PMID:30454721|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30885746|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31983221|PMID:32659924|PMID:33087929|PMID:33238575|PMID:33652588|PMID:33949662|PMID:35087879|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34317382|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29606362|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33652588|PMID:33673806|PMID:33919104|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:35087879|PMID:35300203|PMID:35819174|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30165862|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31024045|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33821670|PMID:33919104|PMID:33949662|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35819174|PMID:36138163|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37418234|PMID:37477868|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1322447 D RGD:9068941 20240118 MouseDO 8706244 Dsg2 desmoglein 2 gene DOID:0060319 cardiac arrest ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20400443|PMID:23861362|PMID:24070718|PMID:25741868|PMID:28492532|PMID:28600387 8706244 Dsg2 desmoglein 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103 8706244 Dsg2 desmoglein 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 8706244 Dsg2 desmoglein 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 8706244 Dsg2 desmoglein 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:23396983|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:29517769|PMID:30847666|PMID:35087879 8706244 Dsg2 desmoglein 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1322446 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20129281|PMID:20603720|PMID:20829228|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23071725|PMID:23299917|PMID:23671136|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24436435|PMID:24704780|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:26138720|PMID:26230511|PMID:26899768|PMID:28492532|PMID:29062102|PMID:35819174 8706244 Dsg2 desmoglein 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1322446 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:16199547|PMID:16773573|PMID:17105751|PMID:19151369|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:23671136|PMID:24033266|PMID:2569966|PMID:25741868|PMID:25820315|PMID:27532257|PMID:28283360|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575|PMID:35087879 8706244 Dsg2 desmoglein 2 gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:1322446 D RGD:7240710 20180130 OMIM 8706244 Dsg2 desmoglein 2 gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:1322446 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:12586364|PMID:16025435|PMID:16199547|PMID:16505173|PMID:16773573|PMID:16774985|PMID:17105751|PMID:17372169|PMID:17576681|PMID:18382419|PMID:18632414|PMID:18639457|PMID:18678517|PMID:18813333|PMID:19039334|PMID:19151369|PMID:19279339|PMID:19358943|PMID:19569224|PMID:19863551|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20708101|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21220045|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:22000064|PMID:22036071|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23128240|PMID:23137101|PMID:23178689|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24086444|PMID:24125834|PMID:24238504|PMID:24436435|PMID:24503780|PMID:24585727|PMID:24704780|PMID:24967631|PMID:25059832|PMID:25087486|PMID:25172079|PMID:25174650|PMID:25209314|PMID:25213555|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25616645|PMID:25637381|PMID:2569966|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25877686|PMID:26112015|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:26899768|PMID:27005929|PMID:27055156|PMID:27114410|PMID:27135274|PMID:271711|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28283360|PMID:28288337|PMID:28323875|PMID:28341588|PMID:28416588|PMID:28454995|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28567303|PMID:28578331|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28818065|PMID:28878402|PMID:29016939|PMID:29038103|PMID:29062102|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29343803|PMID:29396286|PMID:29456632|PMID:29517769|PMID:29544605|PMID:29566126|PMID:29606362|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30129429|PMID:30177324|PMID:30391969|PMID:30454721|PMID:30471092|PMID:30533233|PMID:30615648|PMID:30731207|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:30919572|PMID:30975432|PMID:30985088|PMID:30993396|PMID:31019283|PMID:31156706|PMID:31183845|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31568572|PMID:31638835|PMID:31645976|PMID:31702781|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32041989|PMID:32102357|PMID:32114801|PMID:32268277|PMID:32516855|PMID:32569162|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:32826072|PMID:32877757|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33232181|PMID:33238575|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33762593|PMID:33789662|PMID:33821670|PMID:33919104|PMID:33949662|PMID:33968641|PMID:34012299|PMID:34036930|PMID:34137518|PMID:34317382|PMID:34426522|PMID:34428338|PMID:34500006|PMID:34998950|PMID:35026164|PMID:35087879|PMID:35300203|PMID:35819174|PMID:36138163|PMID:36360260|PMID:36621286|PMID:36837563|PMID:37418234|PMID:37477868|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:21606396|PMID:23396983|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:29517769|PMID:30847666|PMID:35087879 8706244 Dsg2 desmoglein 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:18639457|PMID:20031616|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30885746|PMID:31402444 8706244 Dsg2 desmoglein 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1322446 D RGD:7240710 20180130 OMIM 8706244 Dsg2 desmoglein 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1322446 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DSG2-related condition | ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB | ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:12586364|PMID:16199547|PMID:16773573|PMID:17105751|PMID:17576681|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:2040044|PMID:20400443|PMID:20603720|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21397041|PMID:21455723|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22214898|PMID:22458570|PMID:23071725|PMID:23137101|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24082139|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24967631|PMID:25209314|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26498160|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26850880|PMID:27055156|PMID:27194543|PMID:27532257|PMID:27930701|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28818065|PMID:29038103|PMID:29178656|PMID:29343803|PMID:29456632|PMID:29544605|PMID:29566126|PMID:29750433|PMID:29790872|PMID:29802319|PMID:29899727|PMID:30177324|PMID:30391969|PMID:30790397|PMID:30830208|PMID:30847666|PMID:30885746|PMID:31019283|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31542937|PMID:31737537|PMID:31845994|PMID:31983221|PMID:32102357|PMID:32268277|PMID:32569162|PMID:32659924|PMID:32665702|PMID:32682410|PMID:32746448|PMID:33029862|PMID:33232181|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33673806|PMID:33821670|PMID:33919104|PMID:33949662|PMID:34317382|PMID:34500006|PMID:35087879|PMID:35300203|PMID:35819174|PMID:37418234|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:1059 intellectual disability ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8706244 Dsg2 desmoglein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20400443|PMID:21220045|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:25213555|PMID:25741868|PMID:27055156|PMID:28492532|PMID:28600387|PMID:29456632|PMID:29750433|PMID:30830208|PMID:30847666|PMID:32659924|PMID:33460606|PMID:37418234 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:29802319|PMID:30885746 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29802319|PMID:30885746|PMID:31983221 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30885746|PMID:31983221 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30615648|PMID:30885746|PMID:31983221|PMID:34137518 8706244 Dsg2 desmoglein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322446 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19569224|PMID:20031616|PMID:20603720|PMID:20716751|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:23178689|PMID:23299917|PMID:23671136|PMID:23861362|PMID:23889974|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24503780|PMID:24704780|PMID:25059832|PMID:25332820|PMID:25445213|PMID:25637381|PMID:25741868|PMID:25820315|PMID:26220970|PMID:26230511|PMID:27114410|PMID:27532257|PMID:28074886|PMID:28087566|PMID:28323875|PMID:28492532|PMID:28600387|PMID:29016939|PMID:29802319|PMID:30615648|PMID:30885746|PMID:31983221|PMID:34137518|PMID:34998950 8706244 Dsg2 desmoglein 2 gene DOID:2843 long QT syndrome ISO RGD:1322446 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17105751|PMID:18382419|PMID:18678517|PMID:19039334|PMID:19358943|PMID:19569224|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20716751|PMID:20857253|PMID:20864495|PMID:21455723|PMID:21606390|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:28492532|PMID:29038103|PMID:35087879 8706244 Dsg2 desmoglein 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:630 genetic disease ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24033266|PMID:25741868|PMID:28492532 8706244 Dsg2 desmoglein 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation 8706244 Dsg2 desmoglein 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1322446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 8706244 Dsg2 desmoglein 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:21606396|PMID:25741868|PMID:28492532|PMID:29517769|PMID:30847666 8706244 Dsg2 desmoglein 2 gene DOID:9003139 Cardiac Fibrosis disease_progression ISO RGD:1322447 D RGD:9068941 20231102 RGD PMID:21455723|REF_RGD_ID:401851067 8706244 Dsg2 desmoglein 2 gene DOID:9003163 Heart Block ISO RGD:1322446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:21606396|PMID:25741868|PMID:28492532|PMID:29517769|PMID:30847666 8706244 Dsg2 desmoglein 2 gene DOID:9003936 Cardiomegaly ISO RGD:1311143 D RGD:9068941 20230420 RGD protein:increased expression:heart (rat) PMID:26708424|REF_RGD_ID:264347602 8706244 Dsg2 desmoglein 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1322446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868 8706244 Dsg2 desmoglein 2 gene DOID:9538 multiple myeloma disease_progression ISO RGD:1322446 D RGD:9068941 20231102 RGD PMID:34245117|REF_RGD_ID:401851080 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343973 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:630 genetic disease ISO RGD:1343973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1343973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8706263 Ube2j2 ubiquitin conjugating enzyme E2 J2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1343973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706302 Emd emerin gene DOID:0050454 periventricular nodular heterotopia ISO RGD:735605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:18854860|PMID:19396829|PMID:19846429|PMID:20730588|PMID:20871226|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8706302 Emd emerin gene DOID:0050476 Barth syndrome ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8706302 Emd emerin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735605 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:32860008 8706302 Emd emerin gene DOID:0050700 cardiomyopathy ISO RGD:735605 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:19377476|PMID:20474083|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26820365|PMID:28492532|PMID:29961767|PMID:31024910 8706302 Emd emerin gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8706302 Emd emerin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8706302 Emd emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:7240710 20180912 OMIM 8706302 Emd emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10480214|PMID:11385714|PMID:15967842|PMID:16080119|PMID:16199547|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19997654|PMID:20474083|PMID:21496632|PMID:21520333|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:31185657|PMID:31474437|PMID:31475473|PMID:32860008|PMID:34524739|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:735605 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures | ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:10382909|PMID:10382910|PMID:12872622|PMID:17576681|PMID:17620497|PMID:19377476|PMID:20474083|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:23395478|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:25210889|PMID:25741868|PMID:26467025|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31645980|PMID:31718017|PMID:32880476|PMID:34026875|PMID:8595406|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 8706302 Emd emerin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868 8706302 Emd emerin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868 8706302 Emd emerin gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 8706302 Emd emerin gene DOID:0112003 immunodeficiency 33 ISO RGD:735605 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8706302 Emd emerin gene DOID:10588 adrenoleukodystrophy ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8706302 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10323252|PMID:10382909|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:11385714|PMID:1178008|PMID:15967842|PMID:16080119|PMID:17067998|PMID:17355552|PMID:17576681|PMID:18646565|PMID:19345147|PMID:1998333|PMID:20474083|PMID:21496632|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26899768|PMID:28492532|PMID:31185657|PMID:31474437|PMID:32860008|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10323252|PMID:10382909|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:11385714|PMID:1178008|PMID:15967842|PMID:16080119|PMID:17067998|PMID:17355552|PMID:17576681|PMID:18646565|PMID:19345147|PMID:1998333|PMID:20474083|PMID:21496632|PMID:21697856|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24503780|PMID:25741868|PMID:26187847|PMID:26415001|PMID:26467025|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29961767|PMID:31024910|PMID:31185657|PMID:31474437|PMID:32860008|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:27854218|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735605 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10220866|PMID:10323252|PMID:10382909|PMID:10382910|PMID:10393813|PMID:10399752|PMID:10428430|PMID:10480214|PMID:10874323|PMID:11385714|PMID:11587540|PMID:11748843|PMID:1178008|PMID:11968085|PMID:12872622|PMID:15328537|PMID:15967842|PMID:16080119|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17067998|PMID:17355552|PMID:17576681|PMID:17620497|PMID:18646565|PMID:19377476|PMID:19396829|PMID:19846429|PMID:1998333|PMID:19997654|PMID:20474083|PMID:20730588|PMID:21496632|PMID:21520333|PMID:21697856|PMID:21993399|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23349452|PMID:23395478|PMID:23409742|PMID:23660394|PMID:23785128|PMID:24033266|PMID:24365856|PMID:24375709|PMID:24503780|PMID:24962355|PMID:25030574|PMID:25210889|PMID:25741868|PMID:26187847|PMID:26247046|PMID:26415001|PMID:26467025|PMID:26471271|PMID:26675233|PMID:26820365|PMID:26899768|PMID:28492532|PMID:29334594|PMID:29349559|PMID:29961767|PMID:30079154|PMID:30763825|PMID:30847666|PMID:31024910|PMID:31185657|PMID:31474437|PMID:31475473|PMID:31645980|PMID:31718017|PMID:31977013|PMID:32860008|PMID:32880476|PMID:33124102|PMID:34026875|PMID:34524739|PMID:7294729|PMID:7894480|PMID:8589715|PMID:8595406|PMID:8595407|PMID:8595433|PMID:8655156|PMID:9195226|PMID:9266737|PMID:9384614|PMID:9472006|PMID:9536090|PMID:9536098 8706302 Emd emerin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735605 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 8706302 Emd emerin gene DOID:12849 autistic disorder ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8706302 Emd emerin gene DOID:12930 dilated cardiomyopathy ISO RGD:735605 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8706302 Emd emerin gene DOID:13628 favism ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8706302 Emd emerin gene DOID:2729 dyskeratosis congenita ISO RGD:735605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8706302 Emd emerin gene DOID:423 myopathy ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 8706302 Emd emerin gene DOID:440 neuromuscular disease ISO RGD:735605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:10382909|PMID:10428430|PMID:1178008|PMID:18646565|PMID:1998333|PMID:21697856|PMID:24033266|PMID:7294729|PMID:8595407 8706302 Emd emerin gene DOID:607 paraplegia ISO RGD:735605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8706302 Emd emerin gene DOID:9002720 Splenomegaly ISO RGD:735605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8706328 Klf9 KLF transcription factor 9 gene DOID:289 endometriosis ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8706328 Klf9 KLF transcription factor 9 gene DOID:50 thyroid gland disease ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 8706328 Klf9 KLF transcription factor 9 gene DOID:630 genetic disease ISO RGD:1350312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706328 Klf9 KLF transcription factor 9 gene DOID:9007633 Body Weight ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344221 8706328 Klf9 KLF transcription factor 9 gene DOID:9775 diastolic heart failure ISO RGD:1350312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8706344 Mc2r melanocortin 2 receptor gene DOID:0050562 West syndrome ISO RGD:1348934 D RGD:9068941 20200609 RGD DNA:snps:promoter:multiple (human) PMID:19024088|REF_RGD_ID:6484693 8706344 Mc2r melanocortin 2 receptor gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1348934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8706344 Mc2r melanocortin 2 receptor gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1348934 D RGD:7240710 20180130 OMIM 8706344 Mc2r melanocortin 2 receptor gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1348934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 1 PMID:10443676|PMID:12213892|PMID:14960026|PMID:16271481|PMID:17128565|PMID:17223989|PMID:18059087|PMID:18407210|PMID:18492762|PMID:18504396|PMID:18840636|PMID:19170705|PMID:19558534|PMID:21932602|PMID:25741868|PMID:26650942|PMID:28492532|PMID:34258490|PMID:7829641|PMID:8069303|PMID:8094489|PMID:8227361|PMID:8250922|PMID:8636348|PMID:9758716 8706344 Mc2r melanocortin 2 receptor gene DOID:1059 intellectual disability ISO RGD:1348934 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8706344 Mc2r melanocortin 2 receptor gene DOID:10763 hypertension ISO RGD:1348934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11082157 8706344 Mc2r melanocortin 2 receptor gene DOID:14115 toxic shock syndrome ISO RGD:628649 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:2822467|REF_RGD_ID:6484558 8706344 Mc2r melanocortin 2 receptor gene DOID:630 genetic disease ISO RGD:1348934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706344 Mc2r melanocortin 2 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8706344 Mc2r melanocortin 2 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:628649 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 8706344 Mc2r melanocortin 2 receptor gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1348934 D RGD:9068941 20200609 RGD Familial glucocorticoid deficiency (ACTH resistance), OMIM:202200 PMID:12213892|REF_RGD_ID:1600747 8706344 Mc2r melanocortin 2 receptor gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1348934 D RGD:9068941 20200609 RGD familial glucocorticoid deficiency (ACTJ resistance), OMIM:202200 PMID:8094489|REF_RGD_ID:1600745 8706344 Mc2r melanocortin 2 receptor gene DOID:9007480 Hyperoxia ISO RGD:1553230 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:8110467|REF_RGD_ID:6484136 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:0111042 glycogen storage disease IXA ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:736556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:1826 epilepsy ISO RGD:736556 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:7240710 20180130 OMIM 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:736556 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:10679936|PMID:1293379|PMID:1301207|PMID:1338114|PMID:15384102|PMID:15473177|PMID:1779625|PMID:1909778|PMID:20002125|PMID:20002461|PMID:20691944|PMID:21846590|PMID:21914562|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25495354|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26865159|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:3034892|PMID:32445240|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504309|PMID:8598634|PMID:8962591|PMID:9671272 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3650 lactic acidosis ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2537010 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:736556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:630 genetic disease ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10679936|PMID:10767328|PMID:10872106|PMID:12651851|PMID:1293379|PMID:1301207|PMID:1338114|PMID:15384102|PMID:15473177|PMID:1779625|PMID:1909778|PMID:19517265|PMID:20002125|PMID:20002461|PMID:21846590|PMID:21914562|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25495354|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26865159|PMID:28492532|PMID:28918066|PMID:29756269|PMID:29970614|PMID:3034892|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8504309|PMID:8598634|PMID:9671272 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:736556 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Abnormality of the mitochondrion PMID:10679936|PMID:1301207|PMID:15384102|PMID:15473177|PMID:20002125|PMID:25590979|PMID:25741868|PMID:28492532|PMID:7887409 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:8398 osteoarthritis ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000918 Disease Progression ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:736556 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:10486093|PMID:10679936|PMID:10767328|PMID:10775534|PMID:11102541|PMID:11241048|PMID:11757583|PMID:12379317|PMID:12551913|PMID:1293379|PMID:1301207|PMID:1338114|PMID:1508605|PMID:15384102|PMID:15473177|PMID:16199547|PMID:16713755|PMID:16981164|PMID:17043409|PMID:17172462|PMID:1770778|PMID:1779625|PMID:18023225|PMID:18197404|PMID:1907799|PMID:1909401|PMID:1909778|PMID:19639391|PMID:20002125|PMID:20002461|PMID:20591708|PMID:20691944|PMID:21735565|PMID:21846590|PMID:21914562|PMID:22142326|PMID:22473288|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25326635|PMID:25356417|PMID:25495354|PMID:25582476|PMID:25590979|PMID:25741868|PMID:25741876|PMID:26467025|PMID:26633542|PMID:26865159|PMID:26987331|PMID:27896109|PMID:2828359|PMID:28492532|PMID:28584645|PMID:28639102|PMID:28918066|PMID:29756269|PMID:29758562|PMID:29882371|PMID:3034892|PMID:3137520|PMID:31673819|PMID:32005694|PMID:32445240|PMID:33204598|PMID:7573035|PMID:7692352|PMID:7887409|PMID:7981697|PMID:8024267|PMID:8032855|PMID:8199595|PMID:8504306|PMID:8504309|PMID:8598634|PMID:8771169|PMID:8844217|PMID:8962591|PMID:9266390|PMID:9618178|PMID:9671272|PMID:9686362 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:29335542 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9002994 Pyruvate Metabolism, Inborn Errors ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2378353 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9005926 Leigh Syndrome, X-Linked ISO RGD:736556 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: X-linked Leigh syndrome PMID:1293379|PMID:20002461|PMID:21846590|PMID:25495354|PMID:25741868|PMID:26865159|PMID:28492532|PMID:3034892|PMID:9671272 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007 sudden infant death syndrome ISO RGD:736556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:20002125|PMID:20002461|PMID:24718837|PMID:25741868|PMID:28492532|PMID:28639102|PMID:8962591 8706358 Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050974 spinocerebellar ataxia type 25 ISO RGD:1317494 D RGD:7240710 20220720 OMIM 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0050974 spinocerebellar ataxia type 25 ISO RGD:1317494 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 25 PMID:11080643|PMID:14705117|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448|PMID:35411967 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0110521 autosomal recessive nonsyndromic deafness 70 ISO RGD:1317494 D RGD:7240710 20180130 OMIM 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0110521 autosomal recessive nonsyndromic deafness 70 ISO RGD:1317494 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 70 PMID:11080643|PMID:23084290|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28708278|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0111467 combined oxidative phosphorylation deficiency 13 ISO RGD:1317494 D RGD:7240710 20180130 OMIM 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:0111467 combined oxidative phosphorylation deficiency 13 ISO RGD:1317494 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13 PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28645153|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33158637|PMID:33199448|PMID:33812062 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:630 genetic disease ISO RGD:1317494 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28645153|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1317494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317494 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1317494 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) PMID:23084290|REF_RGD_ID:11554169 8706379 Pnpt1 polyribonucleotide nucleotidyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8706411 Cdk3 cyclin dependent kinase 3 gene DOID:630 genetic disease ISO RGD:1353695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706434 Ppp3r2 protein phosphatase 3 regulatory subunit B, beta gene DOID:0081292 traumatic brain injury ISO RGD:69232 D RGD:9068941 20200609 RGD PMID:20713027|REF_RGD_ID:13830881 8706434 Ppp3r2 protein phosphatase 3 regulatory subunit B, beta gene DOID:1059 intellectual disability ISO RGD:1346251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8706434 Ppp3r2 protein phosphatase 3 regulatory subunit B, beta gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1346251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 8706434 Ppp3r2 protein phosphatase 3 regulatory subunit B, beta gene DOID:630 genetic disease ISO RGD:1346251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706434 Ppp3r2 protein phosphatase 3 regulatory subunit B, beta gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1346251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0050700 cardiomyopathy ISO RGD:1316107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1316107 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:17576681|PMID:20818383|PMID:20819849|PMID:22200994|PMID:24215330|PMID:24642831|PMID:25741868|PMID:27502960|PMID:27604308|PMID:28031252|PMID:28492532|PMID:9536098 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112066 nuclear type mitochondrial complex I deficiency 6 ISO RGD:1316107 D RGD:7240710 20190315 OMIM 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112066 nuclear type mitochondrial complex I deficiency 6 ISO RGD:1316107 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 PMID:11220739|PMID:17576681|PMID:20818383|PMID:20819849|PMID:22200994|PMID:25741868|PMID:28031252|PMID:28492532|PMID:31411514|PMID:9536098 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1316107 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:17576681|PMID:22200994|PMID:25741868|PMID:28031252|PMID:28492532|PMID:9536098 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:11984 hypertrophic cardiomyopathy susceptibility ISO RGD:1316107 D RGD:9068941 20200609 RGD associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human) PMID:11220739|REF_RGD_ID:1600573 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:2377 multiple sclerosis ISO RGD:1316107 D RGD:9068941 20200609 RGD PMID:18682780|REF_RGD_ID:6482255 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:3652 Leigh disease ISO RGD:1316107 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M292T (human) PMID:20819849|REF_RGD_ID:6482269 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:630 genetic disease ISO RGD:1316107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:25741868|PMID:28050010|PMID:28492532 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:655 inherited metabolic disorder ISO RGD:1316107 D RGD:9068941 20200609 RGD mitochondrial complex I deficiency, OMIM:252010, DNA:point mutation:exon:R228Q PMID:11220739|REF_RGD_ID:1600573 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:25741868 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1316107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9000200 Leber Hereditary Optic Neuropathy, Autosomal Recessive 2 ISO RGD:1316107 D RGD:7240710 20231115 OMIM 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9000200 Leber Hereditary Optic Neuropathy, Autosomal Recessive 2 ISO RGD:1316107 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2 PMID:25741868|PMID:28031252 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307109 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (rat) PMID:20876714|REF_RGD_ID:6484699 8706442 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:11054 urinary bladder cancer ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25774636 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:630 genetic disease ISO RGD:1354069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706460 Asap1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1354069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8706504 Tmem248 transmembrane protein 248 gene DOID:14755 argininosuccinic aciduria ISO RGD:1602880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 8706504 Tmem248 transmembrane protein 248 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8706504 Tmem248 transmembrane protein 248 gene DOID:630 genetic disease ISO RGD:1602880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706521 Lrrc14 leucine rich repeat containing 14 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1348401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 8706521 Lrrc14 leucine rich repeat containing 14 gene DOID:630 genetic disease ISO RGD:1348401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:224 transient cerebral ischemia ISO RGD:1595845 D RGD:9068941 20200609 RGD PMID:10700014|REF_RGD_ID:1357161 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:3069 malignant astrocytoma ISO RGD:1345557 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:630 genetic disease ISO RGD:1345557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9000918 Disease Progression ISO RGD:1345557 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 8706553 Tial1 TIA1 cytotoxic granule associated RNA binding protein like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8706591 Klf17 KLF transcription factor 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8706591 Klf17 KLF transcription factor 17 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1344784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8706591 Klf17 KLF transcription factor 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8706591 Klf17 KLF transcription factor 17 gene DOID:630 genetic disease ISO RGD:1344784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706603 Pkn1 protein kinase N1 gene DOID:630 genetic disease ISO RGD:1352784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706603 Pkn1 protein kinase N1 gene DOID:9002514 Neointima ameliorates ISO RGD:69308 D RGD:9068941 20230413 RGD PMID:22893700|REF_RGD_ID:243065233 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:0050722 PHGDH deficiency ISO RGD:1346012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:13580 cholestasis ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1346012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:630 genetic disease ISO RGD:1346012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8706640 Hao2 hydroxyacid oxidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8706654 Ndel1 nudE neurodevelopment protein 1 like 1 gene DOID:5419 schizophrenia ISO RGD:1352165 D RGD:9068941 20200609 RGD mRNA:decreased expression:hipocampus,dorsolateral prefrontal cortex: PMID:16510495|REF_RGD_ID:12790585 8706654 Ndel1 nudE neurodevelopment protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1352165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706654 Ndel1 nudE neurodevelopment protein 1 like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8706693 Plscr3 phospholipid scramblase 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1315960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8706693 Plscr3 phospholipid scramblase 3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1315960 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8706693 Plscr3 phospholipid scramblase 3 gene DOID:1059 intellectual disability ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8706693 Plscr3 phospholipid scramblase 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8706693 Plscr3 phospholipid scramblase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8706693 Plscr3 phospholipid scramblase 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8706693 Plscr3 phospholipid scramblase 3 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1315960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8706693 Plscr3 phospholipid scramblase 3 gene DOID:630 genetic disease ISO RGD:1315960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706693 Plscr3 phospholipid scramblase 3 gene DOID:9970 obesity ISO RGD:1315961 D RGD:9068941 20220825 MouseDO OMIM:601665 8706715 Tmem243 transmembrane protein 243 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8706715 Tmem243 transmembrane protein 243 gene DOID:630 genetic disease ISO RGD:1349104 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706723 Gmps guanine monophosphate synthase gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1320749 D RGD:9068941 20200609 RGD treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes PMID:11110714|REF_RGD_ID:1598998 8706723 Gmps guanine monophosphate synthase gene DOID:630 genetic disease ISO RGD:1320749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706723 Gmps guanine monophosphate synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1310063 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6861338|REF_RGD_ID:5135537 8706723 Gmps guanine monophosphate synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310063 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:3043317|REF_RGD_ID:5135485 8706723 Gmps guanine monophosphate synthase gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1320749 D RGD:9068941 20200609 RGD treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes PMID:11110714|REF_RGD_ID:1598998 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:0060673 Peters anomaly ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:0110403 retinitis pigmentosa 13 ISO RGD:1313510 D RGD:7240710 20180130 OMIM 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:0110403 retinitis pigmentosa 13 ISO RGD:1313510 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 13 PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:17576681|PMID:18695108|PMID:20232351|PMID:21378395|PMID:22039234|PMID:23484092|PMID:23950152|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28515276|PMID:29087248|PMID:30360737|PMID:31725702|PMID:32424050|PMID:33576794|PMID:34906470|PMID:36909829|PMID:9536098 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1313510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:9536098 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1313510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:32531858|PMID:34906470|PMID:36909829|PMID:9536098 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:630 genetic disease ISO RGD:1313510 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:27535533|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33598457|PMID:33781268|PMID:34321860 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:8501 fundus dystrophy ISO RGD:1313510 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:18695108|PMID:20232351|PMID:21378395|PMID:23950152|PMID:24938718|PMID:25741868|PMID:27208204|PMID:28076437|PMID:28492532|PMID:28515276|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33576794|PMID:33598457|PMID:33781268|PMID:34321860 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:9007096 Stroke ISO RGD:1313510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8706749 Prpf8 pre-mRNA processing factor 8 gene DOID:9008582 Developmental Disease ISO RGD:1313510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8706812 Mest mesoderm specific transcript gene DOID:0050476 Barth syndrome ISO RGD:1621604 D RGD:9068941 20220825 MouseDO OMIM:302060 8706812 Mest mesoderm specific transcript gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8706812 Mest mesoderm specific transcript gene DOID:630 genetic disease ISO RGD:1345318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706812 Mest mesoderm specific transcript gene DOID:9004657 Weight Gain ISO RGD:1345318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8706812 Mest mesoderm specific transcript gene DOID:9007491 Childhood Schizophrenia ISO RGD:1345318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:727937 D RGD:9068941 20200609 RGD PMID:12874111|REF_RGD_ID:1299607 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:5419 schizophrenia ISO RGD:1345648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8706848 Cct4 chaperonin containing TCP1 subunit 4 gene DOID:630 genetic disease ISO RGD:1345648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706876 Tmem88b transmembrane protein 88B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706876 Tmem88b transmembrane protein 88B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2802463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8706876 Tmem88b transmembrane protein 88B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8706876 Tmem88b transmembrane protein 88B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8706876 Tmem88b transmembrane protein 88B gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8706876 Tmem88b transmembrane protein 88B gene DOID:0110994 Joubert syndrome 25 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706876 Tmem88b transmembrane protein 88B gene DOID:0111934 immunodeficiency 38 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706876 Tmem88b transmembrane protein 88B gene DOID:0111935 immunodeficiency 16 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706876 Tmem88b transmembrane protein 88B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8706876 Tmem88b transmembrane protein 88B gene DOID:630 genetic disease ISO RGD:2802463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706876 Tmem88b transmembrane protein 88B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8706876 Tmem88b transmembrane protein 88B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2802463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8706876 Tmem88b transmembrane protein 88B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2802463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8706882 Mospd1 motile sperm domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8706882 Mospd1 motile sperm domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1347086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8706882 Mospd1 motile sperm domain containing 1 gene DOID:630 genetic disease ISO RGD:1347086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0070137 autosomal recessive cutis laxa type IIB ISO RGD:1317303 D RGD:7240710 20180130 OMIM 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0070137 autosomal recessive cutis laxa type IIB ISO RGD:1317303 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 2B | ClinVar Annotator: match by term: CUTIS LAXA WITH PROGEROID FEATURES PMID:11424136|PMID:16045708|PMID:16233902|PMID:18304158|PMID:18348262|PMID:19576563|PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28294978|PMID:28454995|PMID:28492532|PMID:28499588|PMID:30138938|PMID:30450527|PMID:31108370|PMID:32860008|PMID:33125268 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0070138 autosomal recessive cutis laxa type IIIB ISO RGD:1317303 D RGD:7240710 20180130 OMIM 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0070138 autosomal recessive cutis laxa type IIIB ISO RGD:1317303 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition PMID:16233902|PMID:18348262|PMID:19648921|PMID:21567914|PMID:22052856|PMID:23406396|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30138938|PMID:30450527|PMID:32860008|PMID:4076251 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1317303 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1317303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:16199547|PMID:16233902|PMID:18348262|PMID:19648921|PMID:21834030|PMID:23963297|PMID:24035636|PMID:25741868|PMID:28492532|PMID:30450527|PMID:32860008|PMID:4076251 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:10907 microcephaly ISO RGD:1317303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:3144 cutis laxa ISO RGD:1317303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:16199547|PMID:16233902|PMID:18304158|PMID:19576563|PMID:19648921|PMID:21739576|PMID:21834030|PMID:23963297|PMID:24035636|PMID:24913064|PMID:25741868|PMID:25741869|PMID:25865492|PMID:26516448|PMID:28294978|PMID:28492532|PMID:30138938|PMID:30450527|PMID:33125268 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:3911 progeria ISO RGD:1317303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648921 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:630 genetic disease ISO RGD:1317303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16233902|PMID:18304158|PMID:19576563|PMID:19648921|PMID:24035636|PMID:25741868|PMID:25741869|PMID:26516448|PMID:28294978|PMID:28492532|PMID:30138938|PMID:30450527|PMID:33125268|PMID:4076251 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8706896 Pycr1 pyrroline-5-carboxylate reductase 1 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1317303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 8706913 Ube2v2 ubiquitin conjugating enzyme E2 V2 gene DOID:0111961 immunodeficiency 26 ISO RGD:1318163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:0080600 COVID-19 ISO RGD:1348156 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1348156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1348156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:630 genetic disease ISO RGD:1348156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8706926 Creg1 cellular repressor of E1A stimulated genes 1 gene DOID:9775 diastolic heart failure ISO RGD:1348156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8706936 Apod apolipoprotein D gene DOID:10652 Alzheimer's disease ISO RGD:737460 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, hippocampus PMID:9751198|REF_RGD_ID:2311209 8706936 Apod apolipoprotein D gene DOID:11714 gestational diabetes ISO RGD:737460 D RGD:9068941 20200609 RGD PMID:6828336|REF_RGD_ID:2311180 8706936 Apod apolipoprotein D gene DOID:1289 neurodegenerative disease ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18458334 8706936 Apod apolipoprotein D gene DOID:1824 status epilepticus ISO RGD:2137 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:10372566|REF_RGD_ID:2311203 8706936 Apod apolipoprotein D gene DOID:3070 high grade glioma ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 8706936 Apod apolipoprotein D gene DOID:4762 vasculogenic impotence ISO RGD:2137 D RGD:9068941 20200609 RGD mRNA:increased expression:penis erectile tissue PMID:11444882|REF_RGD_ID:2311196 8706936 Apod apolipoprotein D gene DOID:630 genetic disease ISO RGD:737460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8706936 Apod apolipoprotein D gene DOID:8927 learning disability ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18419796 8706936 Apod apolipoprotein D gene DOID:9000831 Hypokinesia ISO RGD:737460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21688324 8706936 Apod apolipoprotein D gene DOID:9000998 Brain Injuries ISO RGD:2137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, glia cell, neuron PMID:10501208|REF_RGD_ID:2311202 8706936 Apod apolipoprotein D gene DOID:9007096 Stroke ISO RGD:2137 D RGD:9068941 20200609 RGD PMID:17851453|REF_RGD_ID:2311182 8706936 Apod apolipoprotein D gene DOID:9352 type 2 diabetes mellitus ISO RGD:737460 D RGD:9068941 20200609 RGD PMID:15369805|REF_RGD_ID:2311177 8706936 Apod apolipoprotein D gene DOID:9352 type 2 diabetes mellitus ISO RGD:737460 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7895459|REF_RGD_ID:2311178 8706936 Apod apolipoprotein D gene DOID:9970 obesity ISO RGD:737460 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7913935|REF_RGD_ID:2311179 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:0081220 autosomal recessive intellectual developmental disorder 58 ISO RGD:1605037 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58 PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:4621 holoprosencephaly ISO RGD:1619812 D RGD:9068941 20220825 MouseDO 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:630 genetic disease ISO RGD:1605037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17711852|PMID:25741868|PMID:26050939|PMID:27848944|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9002189 High Myopia ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605037 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:25804403|PMID:26350515 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006299 Mental Retardation, Autosomal Recessive 42 ISO RGD:1605037 D RGD:7240710 20180130 OMIM 8706948 Pgap1 post-GPI attachment to proteins inositol deacylase 1 gene DOID:9006299 Mental Retardation, Autosomal Recessive 42 ISO RGD:1605037 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES PMID:16199547|PMID:17576681|PMID:17711852|PMID:24482476|PMID:25741868|PMID:25804403|PMID:25823418|PMID:26050939|PMID:26350515|PMID:27457812|PMID:27848944|PMID:28492532|PMID:34906502|PMID:9536098 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:0080019 metaphyseal dysplasia ISO RGD:1350997 D RGD:7240710 20190315 OMIM 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:0080019 metaphyseal dysplasia ISO RGD:1350997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pyle metaphyseal dysplasia PMID:25741868|PMID:27355534|PMID:28492532|PMID:33193738 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1350997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:5119 ovarian cyst ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:630 genetic disease ISO RGD:1350997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:9002457 Experimental Arthritis ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194984 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:621075 D RGD:9068941 20200609 RGD PMID:20528676|REF_RGD_ID:4107721 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 8706978 Sfrp4 secreted frizzled related protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23140642 8706988 Pten phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:7240710 20240228 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10606430|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11448956|PMID:11476841|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11948419|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12808147|PMID:12833416|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15355975|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15647370|PMID:15659546|PMID:15805158|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17043057|PMID:17167516|PMID:17213812|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18594467|PMID:18626099|PMID:18725974|PMID:18757403|PMID:18767981|PMID:18781614|PMID:18986487|PMID:19190598|PMID:19265751|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19829307|PMID:19903786|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21475810|PMID:21532617|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23117110|PMID:23160955|PMID:23161105|PMID:23315997|PMID:2333580|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24498881|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25418537|PMID:25437057|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25875300|PMID:25910213|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26229595|PMID:26246517|PMID:26302789|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26572169|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26898890|PMID:26919320|PMID:27157322|PMID:27324988|PMID:27405757 8706988 Pten phosphatase and tensin homolog gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28235761|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28774669|PMID:28873162|PMID:29043291|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29720545|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31199785|PMID:31209962|PMID:31220904|PMID:31336731|PMID:31567591|PMID:31594918|PMID:31664961|PMID:31970404|PMID:32003824|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32378608|PMID:32442409|PMID:32461083|PMID:32461654|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33723755|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34518631|PMID:34625746|PMID:34906515|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35931053|PMID:36988593|PMID:37090027|PMID:37819013|PMID:7728760|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:61995 D RGD:9068941 20200609 RGD Protein:increased expression, increased activity:cerebellum (rat) PMID:12700235|REF_RGD_ID:12801493 8706988 Pten phosphatase and tensin homolog gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:10468583|PMID:10555148|PMID:10698513|PMID:10866302|PMID:10866658|PMID:11035045|PMID:11504908|PMID:12297295|PMID:15016963|PMID:15254419|PMID:15647370|PMID:17526800|PMID:17526801|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20085938|PMID:20453058|PMID:20600018|PMID:20619739|PMID:21194675|PMID:22162582|PMID:22162589|PMID:22628360|PMID:24778394|PMID:24905788|PMID:25157968|PMID:25336918|PMID:25448482|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181 8706988 Pten phosphatase and tensin homolog gene DOID:0050787 juvenile polyposis syndrome ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:oral epithelium (human) PMID:33109573|REF_RGD_ID:127285606 8706988 Pten phosphatase and tensin homolog gene DOID:0050868 hepatocellular adenoma ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:15199412|REF_RGD_ID:1302555 8706988 Pten phosphatase and tensin homolog gene DOID:0050868 hepatocellular adenoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 8706988 Pten phosphatase and tensin homolog gene DOID:0050933 ovarian serous carcinoma exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:ovary, peritoneum (human) PMID:26166715|REF_RGD_ID:11532228 8706988 Pten phosphatase and tensin homolog gene DOID:0060041 autism spectrum disorder ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 8706988 Pten phosphatase and tensin homolog gene DOID:0060058 lymphoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287727 8706988 Pten phosphatase and tensin homolog gene DOID:0060669 cerebral cavernous malformation ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:brain (human) PMID:19061355|REF_RGD_ID:12859036 8706988 Pten phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:7240710 20240228 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:0060867 macrocephaly-autism syndrome ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10606430|PMID:10749983|PMID:10772390|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11071384|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12015762|PMID:12372056|PMID:12614768|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15805158|PMID:16014636|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20712882|PMID:20718038|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21659347|PMID:21798997|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22252256|PMID:22266152|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22505997|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22970944|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:2338203|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23744781|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24088041|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24468202|PMID:24728327|PMID:24763289|PMID:24768297|PMID:24778394|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25418537|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26124082|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26467025|PMID:26579216|PMID:26580448|PMID:26633545|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26800850|PMID:26898890|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27959697|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28250423|PMID:28251007|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29048666|PMID:29273943|PMID:29371908|PMID:29373119|PMID:29389947|PMID:29594054|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311381|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30763456|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31567591|PMID:32150788|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:32860008|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33887726|PMID:34268892|PMID:34943931|PMID:35227301|PMID:35264596|PMID:35931053|PMID:36681873|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9685848|PMID:9832031|PMID:9832032|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:62287 D RGD:9068941 20220825 MouseDO 8706988 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:11939587|PMID:11948419|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16287957|PMID:16506206|PMID:16598737|PMID:16685657|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17167516|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18456716|PMID:18510548|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20307669|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20848651|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21926107|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22713753|PMID:22962422|PMID:22993021|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23132533|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23331837|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24641667|PMID:24647592|PMID:24656772|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25418537|PMID:25429968|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25616216|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26443266|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844 8706988 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26681312|PMID:26757417|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27506944|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27819275|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29095814|PMID:29117568|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29510612|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30311381|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30793491|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31199785|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31674007|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32442409|PMID:32461654|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33876391|PMID:7728760|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9286463|PMID:9288766|PMID:9326929|PMID:9371490|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10051160|PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10777358|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:10959096|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11448956|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:11948419|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14711368|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16052674|PMID:16199547|PMID:16287957|PMID:16506206|PMID:16619501|PMID:16685657|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16829519|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17167516|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17444818|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18456716|PMID:18510548|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19190598|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19622968|PMID:19719509|PMID:19763152|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20307669|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20848651|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21475810|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21869887|PMID:21926107|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22252256|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22382802|PMID:22406018|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22713753|PMID:22962422|PMID:22970944|PMID:22993021|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23132533|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23331837|PMID:2333580|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23419777|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23613428|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24123798|PMID:24136893|PMID:24292679|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24641667|PMID:24647592|PMID:24656772|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25157968 8706988 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25418537|PMID:25429968|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25616216|PMID:25640679|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25873899|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26350204|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26572169|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26681312|PMID:26757417|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26932208|PMID:26960334|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27506944|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27819275|PMID:27824329|PMID:27829222|PMID:27860216|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:27993330|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29117568|PMID:29152901|PMID:29263802|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29496690|PMID:29510612|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29805648|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30311381|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30793491|PMID:30809968|PMID:30886105|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31130284|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31199785|PMID:31209962|PMID:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31567591|PMID:31594918|PMID:31609537|PMID:31664961|PMID:31674007|PMID:31712222|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32373528|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32959437|PMID:32980694|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33747896|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34326862|PMID:34386506|PMID:34492006|PMID:34518631|PMID:34625746|PMID:34649609|PMID:34906515|PMID:34943931|PMID:34958143|PMID:35089076|PMID:35101336|PMID:35172517|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35338148|PMID:35399540|PMID:35723418|PMID:35931053|PMID:35982159|PMID:36175890|PMID:36681873|PMID:36988593|PMID:37090027|PMID:37336910|PMID:37373496|PMID:37819013|PMID:7728760|PMID:8071972|PMID:8673088|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9286463|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9371490|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9785012|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031 8706988 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:0080191 PTEN hamartoma tumor syndrome susceptibility ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutations:cds:p.G129E, p.E157X, p.R233X (human) PMID:9140396|REF_RGD_ID:12802361 8706988 Pten phosphatase and tensin homolog gene DOID:0080202 adenoid cystic carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8706988 Pten phosphatase and tensin homolog gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26023714 8706988 Pten phosphatase and tensin homolog gene DOID:0080365 endometrial hyperplasia ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402032 8706988 Pten phosphatase and tensin homolog gene DOID:0081000 Cowden syndrome 4 ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome 4 PMID:25741868 8706988 Pten phosphatase and tensin homolog gene DOID:0111766 X-linked VACTERL association ISO RGD:69119 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly PMID:10866302|PMID:11748304|PMID:17526800|PMID:17526801|PMID:17942903|PMID:21828076|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29874181 8706988 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:7240710 20240228 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:11684570|PMID:11685670|PMID:14518070|PMID:17392703|PMID:17526800|PMID:17526801|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25677497|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:14518070|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:18558293|PMID:18767981|PMID:20085938|PMID:20301661|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26467025|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:29874181|PMID:30287823|PMID:30614812|PMID:30659124|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:deletion PMID:17700571|REF_RGD_ID:2292502 8706988 Pten phosphatase and tensin homolog gene DOID:10283 prostate cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 8706988 Pten phosphatase and tensin homolog gene DOID:10325 silicosis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27621875 8706988 Pten phosphatase and tensin homolog gene DOID:10534 stomach cancer ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10076877|PMID:10400993|PMID:10555148|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11918710|PMID:12614768|PMID:12938083|PMID:1336932|PMID:14566704|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16199547|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20194734|PMID:20453058|PMID:20619739|PMID:20685300|PMID:20881644|PMID:21194675|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22962422|PMID:23161105|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23470840|PMID:23475934|PMID:23764071|PMID:23934111|PMID:23934601|PMID:24033266|PMID:24123798|PMID:24345843|PMID:24375884|PMID:24744697|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25363760|PMID:25647146|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26773036|PMID:27426521|PMID:27477328|PMID:27531073|PMID:27535533|PMID:27824329|PMID:27829222|PMID:28191890|PMID:28263302|PMID:28286253|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29594054|PMID:29706350|PMID:29706646|PMID:29785012|PMID:30181857|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31332282|PMID:31336731|PMID:32295079|PMID:32350270|PMID:32664367|PMID:33083010|PMID:33088792|PMID:33372952|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9832031|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:10584 retinitis pigmentosa onset ISO RGD:61995 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:22432009|REF_RGD_ID:12802340 8706988 Pten phosphatase and tensin homolog gene DOID:1059 intellectual disability ISO RGD:69119 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10555148|PMID:11332402|PMID:12372056|PMID:17526800|PMID:17576681|PMID:18080326|PMID:21194675|PMID:21291452|PMID:21659347|PMID:21956414|PMID:22703879|PMID:23442912|PMID:23555315|PMID:24763289|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:28492532|PMID:29371908|PMID:29720545|PMID:31144778|PMID:31159747|PMID:31209962|PMID:33471991|PMID:34268892|PMID:9536098 8706988 Pten phosphatase and tensin homolog gene DOID:10762 portal hypertension ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:14525948|REF_RGD_ID:1581280 8706988 Pten phosphatase and tensin homolog gene DOID:10763 hypertension ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15646324 8706988 Pten phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10051603|PMID:10698713|PMID:10848731|PMID:10866302|PMID:12075083|PMID:12208743|PMID:12938083|PMID:16773562|PMID:17928923|PMID:20600018|PMID:20712882|PMID:21194675|PMID:21659347|PMID:21828076|PMID:22469695|PMID:22962422|PMID:23335809|PMID:23399955|PMID:23886400|PMID:24766807|PMID:24778394|PMID:25527629|PMID:25669429|PMID:27535533|PMID:28492532|PMID:28497778|PMID:28526761|PMID:29706350|PMID:29785012|PMID:31079897|PMID:32442409|PMID:35227301|PMID:9140396|PMID:9256433|PMID:9735393|PMID:9811831 8706988 Pten phosphatase and tensin homolog gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18190825|REF_RGD_ID:2291891 8706988 Pten phosphatase and tensin homolog gene DOID:11132 prostatic hypertrophy ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11175795|REF_RGD_ID:1302553 8706988 Pten phosphatase and tensin homolog gene DOID:11166 papillomavirus infectious disease ISO RGD:69119 D RGD:9068941 20210625 RGD associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human) PMID:28945300|REF_RGD_ID:127285601 8706988 Pten phosphatase and tensin homolog gene DOID:11166 papillomavirus infectious disease ISO RGD:69119 D RGD:9068941 20210625 RGD associated with tonsil cancer;protein:increased expression:tonsil (human) PMID:24616007|REF_RGD_ID:127285613 8706988 Pten phosphatase and tensin homolog gene DOID:1148 polydactyly ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17427195 8706988 Pten phosphatase and tensin homolog gene DOID:11832 visual epilepsy ISO RGD:62287 D RGD:9068941 20220728 RGD PMID:11726926|REF_RGD_ID:1302554 8706988 Pten phosphatase and tensin homolog gene DOID:1192 peripheral nervous system neoplasm ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Neurofibromatosis 1;DNA:loss of heterozygosity:cds: (human) PMID:19246520|REF_RGD_ID:12802354 8706988 Pten phosphatase and tensin homolog gene DOID:12273 anisometropia ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 8706988 Pten phosphatase and tensin homolog gene DOID:1240 leukemia ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 8706988 Pten phosphatase and tensin homolog gene DOID:127 leiomyoma ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:myometrium PMID:18000229|REF_RGD_ID:2292498 8706988 Pten phosphatase and tensin homolog gene DOID:127 leiomyoma ISO RGD:69119 D RGD:9068941 20200609 RGD protein:increased phosphorylation:myometrium PMID:17097286|REF_RGD_ID:2292508 8706988 Pten phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:16506206|PMID:16704655|PMID:19457929|PMID:21956414|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26534844|PMID:27514801|PMID:28492532|PMID:28523199|PMID:29296277|PMID:9288766 8706988 Pten phosphatase and tensin homolog gene DOID:12849 autistic disorder ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:16506206|PMID:16704655|PMID:19457929|PMID:20926450|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22595938|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26246517|PMID:26504226|PMID:26534844|PMID:27514801|PMID:28195393|PMID:28492532|PMID:28523199|PMID:29296277|PMID:29706350|PMID:29785012|PMID:32003824|PMID:9288766|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:265380 8706988 Pten phosphatase and tensin homolog gene DOID:13482 Proteus syndrome ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Proteus-like syndrome PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:11918710|PMID:12471211|PMID:14518070|PMID:17392703|PMID:18558293|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:13608 biliary atresia ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25487473|REF_RGD_ID:12832754 8706988 Pten phosphatase and tensin homolog gene DOID:1380 endometrial cancer ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:608089 8706988 Pten phosphatase and tensin homolog gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11685670 8706988 Pten phosphatase and tensin homolog gene DOID:14566 disease of cellular proliferation ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:10866302|PMID:11504908|PMID:11875759|PMID:12085208|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23399955|PMID:23470840|PMID:25157968|PMID:25741868|PMID:26517354|PMID:26619011|PMID:26798346|PMID:27477328|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:1470 major depressive disorder ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:occipital cortex (human) PMID:12969265|REF_RGD_ID:127285604 8706988 Pten phosphatase and tensin homolog gene DOID:1520 colon carcinoma ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10555148|PMID:12372056|PMID:21194675|PMID:21659347|PMID:21956414|PMID:22703879|PMID:23442912|PMID:23555315|PMID:24763289|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26800850|PMID:27428751|PMID:27477328|PMID:28492532|PMID:29371908|PMID:31144778|PMID:31159747|PMID:31209962|PMID:33471991|PMID:34268892 8706988 Pten phosphatase and tensin homolog gene DOID:1612 breast cancer ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11918710|PMID:14569134|PMID:14623110|PMID:16199547|PMID:16773562|PMID:17526801|PMID:20712882|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21869887|PMID:22558107|PMID:23315997|PMID:23399955|PMID:24033266|PMID:24136893|PMID:25132236|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26898890|PMID:27405757|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:29043291|PMID:29706350|PMID:29785012|PMID:9467011|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:1612 breast cancer ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:11918710|PMID:14569134|PMID:14623110|PMID:16199547|PMID:16773562|PMID:17526801|PMID:20712882|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21869887|PMID:22558107|PMID:23315997|PMID:23399955|PMID:24033266|PMID:24136893|PMID:25132236|PMID:25527629|PMID:25669429|PMID:25741868|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26580448|PMID:26898890|PMID:27405757|PMID:27535533|PMID:28008555|PMID:28418444|PMID:28492532|PMID:29043291|PMID:29706350|PMID:29785012|PMID:31006514|PMID:31567591|PMID:32350270|PMID:32366478|PMID:35931053|PMID:9467011|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:1612 breast cancer disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:12055674|REF_RGD_ID:2292514 8706988 Pten phosphatase and tensin homolog gene DOID:1749 squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8706988 Pten phosphatase and tensin homolog gene DOID:1793 pancreatic cancer ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 8706988 Pten phosphatase and tensin homolog gene DOID:1826 epilepsy ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:25669429|PMID:25741868|PMID:26467025|PMID:27535533 8706988 Pten phosphatase and tensin homolog gene DOID:1909 melanoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10866302|PMID:1097835|PMID:10978354|PMID:11051241|PMID:11476841|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16007494|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:2018 hyperinsulinism ISO RGD:61995 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:18421022|REF_RGD_ID:2292519 8706988 Pten phosphatase and tensin homolog gene DOID:2043 hepatitis B exacerbates ISO RGD:62287 D RGD:9068941 20210625 RGD mRNA:decreased expression:liver (mouse) PMID:31604033|REF_RGD_ID:127285593 8706988 Pten phosphatase and tensin homolog gene DOID:219 colon cancer ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon (human) PMID:21806946|REF_RGD_ID:12859043 8706988 Pten phosphatase and tensin homolog gene DOID:2226 myeloproliferative neoplasm ISO RGD:69119 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:25741868|PMID:28492532|PMID:35101336 8706988 Pten phosphatase and tensin homolog gene DOID:224 transient cerebral ischemia ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:12414116|REF_RGD_ID:1358425 8706988 Pten phosphatase and tensin homolog gene DOID:2256 osteochondrodysplasia ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:18832389|REF_RGD_ID:12859038 8706988 Pten phosphatase and tensin homolog gene DOID:2394 ovarian cancer ISO RGD:69119 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:24033266|PMID:24055113|PMID:25741868|PMID:25980754|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32350270|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33471991 8706988 Pten phosphatase and tensin homolog gene DOID:2394 ovarian cancer ameliorates ISO RGD:69119 D RGD:9068941 20210625 RGD human gene and cells in a mouse model PMID:18347155|REF_RGD_ID:127285605 8706988 Pten phosphatase and tensin homolog gene DOID:2526 prostate adenocarcinoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27147599|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:255 hemangioma ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:21194675|PMID:28492532|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:264 hemangiopericytoma ISO RGD:69119 D RGD:9068941 20221110 RGD protein:decreased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 8706988 Pten phosphatase and tensin homolog gene DOID:2671 transitional cell carcinoma ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25741868|PMID:26619011|PMID:27147599|PMID:28492532|PMID:29706350 8706988 Pten phosphatase and tensin homolog gene DOID:2841 asthma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17982072 8706988 Pten phosphatase and tensin homolog gene DOID:2843 long QT syndrome ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21097842 8706988 Pten phosphatase and tensin homolog gene DOID:2870 endometrial adenocarcinoma ameliorates ISO RGD:1319700 D RGD:9068941 20210625 RGD PMID:32843721|REF_RGD_ID:127285600 8706988 Pten phosphatase and tensin homolog gene DOID:2871 endometrial carcinoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10866302|PMID:10920277|PMID:11051241|PMID:11504908|PMID:11948419|PMID:16014636|PMID:16199547|PMID:17576681|PMID:17942903|PMID:18767981|PMID:1945792|PMID:20085938|PMID:20600018|PMID:20926450|PMID:21103832|PMID:21194675|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22327138|PMID:23399955|PMID:23470840|PMID:24033266|PMID:24055113|PMID:24292679|PMID:24766807|PMID:24778394|PMID:25157968|PMID:25741868|PMID:25980754|PMID:26619011|PMID:26795104|PMID:27535533|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29931205|PMID:30311380|PMID:32350270|PMID:32832836|PMID:32885271|PMID:33723755|PMID:34386506|PMID:35227301|PMID:7728760|PMID:8980400|PMID:9259288|PMID:9326929|PMID:9467011|PMID:9536098|PMID:9740666|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:2938 Epstein-Barr virus infectious disease ISO RGD:69119 D RGD:9068941 20210625 RGD associated with stomach carcinoma;DNA:hypermethylation:promoter (human) PMID:19339266|REF_RGD_ID:127285616 8706988 Pten phosphatase and tensin homolog gene DOID:299 adenocarcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909629 8706988 Pten phosphatase and tensin homolog gene DOID:303 substance-related disorder ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:16474401|REF_RGD_ID:2292548 8706988 Pten phosphatase and tensin homolog gene DOID:305 carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9326929 8706988 Pten phosphatase and tensin homolog gene DOID:3068 glioblastoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:10400993|PMID:10555148|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20619739|PMID:20881644|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22479427|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23470840|PMID:23475934|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25527629|PMID:25741868|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26798346|PMID:27147599|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:30614812|PMID:31159747|PMID:31336731|PMID:32350270|PMID:32442409|PMID:33077954|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:7240710 20240228 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15647370|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18759867|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20223021|PMID:20301661|PMID:20453058|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:22628360|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24498881|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26246517|PMID:26376867|PMID:26467025|PMID:26579216|PMID:26633542|PMID:26773036|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:27959697|PMID:28250423|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:29273943|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31336731|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33600059|PMID:33723755|PMID:34386506|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:3070 high grade glioma ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10777358|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11918710|PMID:12085208|PMID:12471211|PMID:12614768|PMID:12844284|PMID:1336932|PMID:14518070|PMID:14675182|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15647370|PMID:15805158|PMID:16199547|PMID:16752378|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17847000|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18759867|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20223021|PMID:20301661|PMID:20453058|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20881644|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:22628360|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24345843|PMID:24375884|PMID:24404930|PMID:24498881|PMID:24766807|PMID:24778394|PMID:24809327|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26246517|PMID:26376867|PMID:26467025|PMID:26579216|PMID:26633542|PMID:26773036|PMID:27221918|PMID:27405757|PMID:27426521|PMID:27477328|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27829222|PMID:27959697|PMID:28250423|PMID:28286253|PMID:28289760|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28755079|PMID:29273943|PMID:29373119|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:29874181|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30993208|PMID:31006514|PMID:31336731|PMID:32150788|PMID:32234455|PMID:32238909|PMID:32350270|PMID:32664367|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33723755|PMID:34386506|PMID:35089076|PMID:35227301|PMID:36988593|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9326929|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9735393|PMID:9740666|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:3151 skin squamous cell carcinoma ameliorates ISO RGD:1556939|RGD:1323418 D RGD:9068941 20210625 RGD PMID:24582960|REF_RGD_ID:126928134 8706988 Pten phosphatase and tensin homolog gene DOID:3153 lipomatosis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11748304 8706988 Pten phosphatase and tensin homolog gene DOID:3247 rhabdomyosarcoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10848731|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11918710|PMID:16773562|PMID:17286265|PMID:18767981|PMID:20085938|PMID:21194675|PMID:21956414|PMID:22266152|PMID:22381246|PMID:23335809|PMID:23470840|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24345843|PMID:25157968|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:30614812|PMID:30659124|PMID:33083010|PMID:33372952|PMID:36988593|PMID:9259288|PMID:9467011|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:3314 angiomyolipoma ISO RGD:69119 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:22737271|REF_RGD_ID:12802360 8706988 Pten phosphatase and tensin homolog gene DOID:3315 lipoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 8706988 Pten phosphatase and tensin homolog gene DOID:3459 breast carcinoma ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16773562|PMID:21194675|PMID:28492532|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:3565 meningioma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Meningioma PMID:12085208|PMID:17873882|PMID:19340001|PMID:19458356|PMID:19829307|PMID:22491738|PMID:23349303|PMID:23442912|PMID:24809327|PMID:25741868|PMID:26773036|PMID:27221918|PMID:28492532|PMID:28755079|PMID:29373119|PMID:30287823 8706988 Pten phosphatase and tensin homolog gene DOID:363 uterine cancer ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27147599|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:37 skin disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19321504 8706988 Pten phosphatase and tensin homolog gene DOID:3717 gastric adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:3717 gastric adenocarcinoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27147599|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:3742 bladder squamous cell carcinoma disease_progression ISO RGD:69119 D RGD:9068941 20210625 RGD associated with schistosomiasis;protein:decreased expression:urothelium (human) PMID:26916953|REF_RGD_ID:127285612 8706988 Pten phosphatase and tensin homolog gene DOID:3907 lung squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10400993|PMID:10555148|PMID:10920277|PMID:10923032|PMID:11504908|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16952599|PMID:17526800|PMID:17873882|PMID:18558293|PMID:18725974|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22479427|PMID:22491738|PMID:23335809|PMID:23349303|PMID:23470840|PMID:23475934|PMID:24778394|PMID:25288137|PMID:25741868|PMID:26467025|PMID:26773036|PMID:27426521|PMID:28286253|PMID:28492532|PMID:28526761|PMID:30528446|PMID:30614812|PMID:31336731|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803 8706988 Pten phosphatase and tensin homolog gene DOID:3910 lung adenocarcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8706988 Pten phosphatase and tensin homolog gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:188470 8706988 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10866302|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69119 D RGD:9068941 20200609 RGD PMID:15821467|REF_RGD_ID:2292513 8706988 Pten phosphatase and tensin homolog gene DOID:4586 familial meningioma ISO RGD:69119 D RGD:7240710 20240228 OMIM 8706988 Pten phosphatase and tensin homolog gene DOID:4586 familial meningioma ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:14518070|PMID:14566704|PMID:16014636|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17898811|PMID:17942903|PMID:18558293|PMID:18767981|PMID:19457929|PMID:20085938|PMID:20301661|PMID:20600018|PMID:20926450|PMID:21194675|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24375884|PMID:24766807|PMID:24778394|PMID:25132236|PMID:25157968|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25875300|PMID:26467025|PMID:26468640|PMID:27477328|PMID:27531073|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:29594054|PMID:29706350|PMID:29785012|PMID:29874181|PMID:30287823|PMID:30311380|PMID:30614812|PMID:30659124|PMID:32196895|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:33876391|PMID:33887726|PMID:35227301|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9600246|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:69119 D RGD:9068941 20220519 RGD protein:decreased expression:liver (human) PMID:24796583|REF_RGD_ID:152177907 8706988 Pten phosphatase and tensin homolog gene DOID:4947 cholangiocarcinoma ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:23376645|REF_RGD_ID:12802341 8706988 Pten phosphatase and tensin homolog gene DOID:4947 cholangiocarcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 8706988 Pten phosphatase and tensin homolog gene DOID:5041 esophageal cancer ISO RGD:69119 D RGD:9068941 20220630 RGD protein:decreased expression:esophagus (human) PMID:27188433|REF_RGD_ID:152995510 8706988 Pten phosphatase and tensin homolog gene DOID:5041 esophageal cancer treatment ISO RGD:69119 D RGD:9068941 20210625 RGD human gene and cells in a mouse model PMID:20378992|REF_RGD_ID:127285592 8706988 Pten phosphatase and tensin homolog gene DOID:5082 liver cirrhosis ISO RGD:62287 D RGD:9068941 20210625 RGD associated with schistosomiasis;protein, mRNA:decreased expression:liver (mouse) PMID:31907686|REF_RGD_ID:127285596 8706988 Pten phosphatase and tensin homolog gene DOID:5082 liver cirrhosis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26023714 8706988 Pten phosphatase and tensin homolog gene DOID:5409 lung small cell carcinoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:5411 lung oat cell carcinoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:5419 schizophrenia ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8706988 Pten phosphatase and tensin homolog gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10866302|PMID:11051241|PMID:11504908|PMID:11801303|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:11108659|PMID:12938083|PMID:14566704|PMID:16598737|PMID:16773562|PMID:17427195|PMID:17942903|PMID:20395440|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24004025|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:11108659|PMID:12938083|PMID:14566704|PMID:16598737|PMID:16773562|PMID:17427195|PMID:17942903|PMID:20395440|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24004025|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:17427195|PMID:17942903|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32295079|PMID:32566746|PMID:9619835 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32566746|PMID:33471991|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:27535533|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33471991|PMID:36988593|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69119 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10076877|PMID:10400993|PMID:12938083|PMID:14566704|PMID:14623110|PMID:17427195|PMID:17942903|PMID:21194675|PMID:21828076|PMID:22261759|PMID:22558107|PMID:23161105|PMID:23315997|PMID:23934111|PMID:24033266|PMID:24375884|PMID:24744697|PMID:25669429|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27477328|PMID:28263302|PMID:28492532|PMID:28677221|PMID:29706350|PMID:29785012|PMID:29945567|PMID:30287823|PMID:32234455|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33471991|PMID:34268892|PMID:36988593|PMID:9619835|PMID:9788441 8706988 Pten phosphatase and tensin homolog gene DOID:6171 uterine carcinosarcoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27147599|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:630 genetic disease ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10606430|PMID:10749983|PMID:10848731|PMID:10866302|PMID:11051241|PMID:11685670|PMID:11918710|PMID:12614768|PMID:14518070|PMID:17392703|PMID:17526800|PMID:17576681|PMID:17928923|PMID:17942903|PMID:17954274|PMID:18558293|PMID:19457929|PMID:20301661|PMID:20600018|PMID:20926450|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22076652|PMID:22381246|PMID:22469695|PMID:22595938|PMID:22970944|PMID:23160955|PMID:23335809|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24136893|PMID:24375884|PMID:24766807|PMID:24778394|PMID:25132236|PMID:25157968|PMID:25326635|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25875300|PMID:25980754|PMID:26124082|PMID:26467025|PMID:26468640|PMID:26580448|PMID:26898890|PMID:27477328|PMID:27481051|PMID:27531073|PMID:27535533|PMID:27829222|PMID:27959697|PMID:28008555|PMID:28086757|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29785012|PMID:30181857|PMID:30287823|PMID:30311380|PMID:30327747|PMID:30614812|PMID:31006514|PMID:31567591|PMID:31664961|PMID:32123317|PMID:32238909|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32664367|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33600059|PMID:34943931|PMID:35227301|PMID:35931053|PMID:36988593|PMID:9140396|PMID:9256433|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9832032 8706988 Pten phosphatase and tensin homolog gene DOID:6457 Cowden syndrome ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease PMID:10051160|PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11685670|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16952599|PMID:17392703|PMID:17526800|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22281088|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:23335809|PMID:23349303|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23886400|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26492180|PMID:26773036|PMID:26845104|PMID:27324988|PMID:27426521|PMID:27477328|PMID:27959697|PMID:28286253|PMID:28492532|PMID:28526761|PMID:29663862|PMID:30287823|PMID:30614812|PMID:30793491|PMID:32238909|PMID:33077954|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803 8706988 Pten phosphatase and tensin homolog gene DOID:6457 Cowden syndrome ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease PMID:10051160|PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11504908|PMID:11685670|PMID:11875759|PMID:11918710|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14711368|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:15805158|PMID:16773562|PMID:16952599|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20881644|PMID:21190448|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22520842|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25429968|PMID:25527629|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25875300|PMID:26376867|PMID:26418532|PMID:26467025|PMID:26492180|PMID:26579216|PMID:26619011|PMID:26773036|PMID:26798346|PMID:26845104|PMID:27324988|PMID:27426521|PMID:27477328|PMID:27514801|PMID:27959697|PMID:28263967|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29359449|PMID:29373119|PMID:29663862|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30374176|PMID:30528446|PMID:30614812|PMID:30793491|PMID:31130284|PMID:31220904|PMID:31232187|PMID:31336731|PMID:31427284|PMID:31594918|PMID:32123317|PMID:32162695|PMID:32196895|PMID:32238909|PMID:32350270|PMID:32442409|PMID:33077954|PMID:33208383|PMID:33600059|PMID:33876391|PMID:33887726|PMID:34492006|PMID:34625746|PMID:34906515|PMID:35227301|PMID:35241692|PMID:35723418|PMID:36175890|PMID:36988593|PMID:8071972|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9735393|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:62287 D RGD:9068941 20220630 RGD PMID:29303510|REF_RGD_ID:152995524 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:114550 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma ISO RGD:69119 D RGD:9068941 20210625 RGD associated with hepatitis B;protein:decreased expression:liver (human) PMID:30690477|REF_RGD_ID:127285603 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD associated with hepatitis C, liver cirrhosis;protein:decreased expression:liver (human) PMID:12115563|REF_RGD_ID:127285610 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD protein:decreased expression:liver (human) PMID:12673720|REF_RGD_ID:127285591 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma severity ISO RGD:69119 D RGD:9068941 20220630 RGD protein:decreased expression:liver (human) PMID:29303510|REF_RGD_ID:152995524 8706988 Pten phosphatase and tensin homolog gene DOID:684 hepatocellular carcinoma treatment ISO RGD:61995 D RGD:9068941 20220422 RGD PMID:31801250|REF_RGD_ID:151893509 8706988 Pten phosphatase and tensin homolog gene DOID:76 stomach disease ISO RGD:61995 D RGD:9068941 20200609 RGD associated with Hypertension, Portal;protein:increased expression:stomach mucosa PMID:14525948|REF_RGD_ID:1581280 8706988 Pten phosphatase and tensin homolog gene DOID:8029 sporadic breast cancer ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: (human) PMID:15287024|REF_RGD_ID:12859037 8706988 Pten phosphatase and tensin homolog gene DOID:83 cataract ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:24270425|REF_RGD_ID:12859033 8706988 Pten phosphatase and tensin homolog gene DOID:8541 Sezary's disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8706988 Pten phosphatase and tensin homolog gene DOID:8634 prostate carcinoma in situ ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:18268330|REF_RGD_ID:2292497 8706988 Pten phosphatase and tensin homolog gene DOID:8634 prostate carcinoma in situ ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19081794|PMID:22581815 8706988 Pten phosphatase and tensin homolog gene DOID:8719 in situ carcinoma ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:decreased expression:endometrium PMID:17349568|REF_RGD_ID:2289828 8706988 Pten phosphatase and tensin homolog gene DOID:874 bacterial pneumonia ameliorates ISO RGD:62287 D RGD:9068941 20210625 RGD myeloid knockout PMID:21527775|REF_RGD_ID:127285594 8706988 Pten phosphatase and tensin homolog gene DOID:8761 acute megakaryocytic leukemia ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acute megakaryocytic leukemia PMID:10848731|PMID:10866302|PMID:16773562|PMID:17941496|PMID:20600018|PMID:21194675|PMID:21343951|PMID:21659347|PMID:22281088|PMID:22520842|PMID:23335809|PMID:23475934|PMID:23886400|PMID:24778394|PMID:25669429|PMID:25741868|PMID:26376867|PMID:28492532|PMID:29663862|PMID:35227301|PMID:9735393 8706988 Pten phosphatase and tensin homolog gene DOID:8805 intermediate coronary syndrome ISO RGD:69119 D RGD:9068941 20231026 RGD RNA:increased expression:serum PMID:32595526|REF_RGD_ID:401851053 8706988 Pten phosphatase and tensin homolog gene DOID:8923 skin melanoma ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:8947 diabetic retinopathy ISO RGD:61995 D RGD:9068941 20210219 RGD mRNA, protein:decreased expression:retina PMID:31759996|REF_RGD_ID:41410819 8706988 Pten phosphatase and tensin homolog gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:17672936|REF_RGD_ID:2298701 8706988 Pten phosphatase and tensin homolog gene DOID:9000039 Spinal Cord Injuries ISO RGD:61995 D RGD:9068941 20230216 RGD mRNA:increased expression:spinal cord: PMID:28601045|REF_RGD_ID:156420142 8706988 Pten phosphatase and tensin homolog gene DOID:9000040 Hypertrophy ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19211884 8706988 Pten phosphatase and tensin homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17919877|REF_RGD_ID:2292499 8706988 Pten phosphatase and tensin homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:69119 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased expression:prostate PMID:17163422|REF_RGD_ID:2292507 8706988 Pten phosphatase and tensin homolog gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:69119 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:9371490 8706988 Pten phosphatase and tensin homolog gene DOID:9000918 Disease Progression ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729295 8706988 Pten phosphatase and tensin homolog gene DOID:9000965 Neoplasm Metastasis ISO RGD:62287 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:18381417|REF_RGD_ID:2292496 8706988 Pten phosphatase and tensin homolog gene DOID:9000965 Neoplasm Metastasis ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10978354 8706988 Pten phosphatase and tensin homolog gene DOID:9001527 Congenital Hypomyelinating Neuropathy ISO RGD:12181883 D RGD:9068941 20230921 OMIA Colorectal hamartomatous polyposis and ganglioneuromatosis PMID:20952721|PMID:37708475 8706988 Pten phosphatase and tensin homolog gene DOID:9001793 Generalized Epilepsy ISO RGD:69119 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8706988 Pten phosphatase and tensin homolog gene DOID:9002106 Pneumococcal Pneumonia ameliorates ISO RGD:62287 D RGD:9068941 20210625 RGD myeloid knockout PMID:20505137|REF_RGD_ID:127285597 8706988 Pten phosphatase and tensin homolog gene DOID:9002165 Diabetic Nephropathies ISO RGD:61995 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex, glomerulus PMID:16804083|REF_RGD_ID:2292546 8706988 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11175795|PMID:18268330|REF_RGD_ID:1302553|REF_RGD_ID:2292497 8706988 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms ISO RGD:69119 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:16421604|PMID:17173048|PMID:19081794|PMID:19396168|PMID:20729295|PMID:21456062|PMID:21714127|PMID:22581815|PMID:22610119|PMID:23248098|PMID:28319090|PMID:29295717|PMID:29335545|PMID:29610475|PMID:32525019|PMID:33129824|PMID:9371490 8706988 Pten phosphatase and tensin homolog gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11854455|REF_RGD_ID:2292510 8706988 Pten phosphatase and tensin homolog gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:69119 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10400993|PMID:10555148|PMID:10848731|PMID:10920277|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11918710|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17286265|PMID:17526800|PMID:17873882|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20453058|PMID:20619739|PMID:20881644|PMID:21194675|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22381246|PMID:22479427|PMID:22491738|PMID:23335809|PMID:23349303|PMID:23470840|PMID:23475934|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25741868|PMID:26467025|PMID:26773036|PMID:27426521|PMID:28286253|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31336731|PMID:33083010|PMID:33372952|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10555148|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11918710|PMID:11948419|PMID:1336932|PMID:14518070|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16014636|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17873882|PMID:17941496|PMID:17942903|PMID:18025323|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20600018|PMID:20619739|PMID:20712882|PMID:20881644|PMID:20926450|PMID:21103832|PMID:21190448|PMID:21194675|PMID:21343951|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22381246|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22595938|PMID:23117110|PMID:23335809|PMID:23349303|PMID:23399955|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23764071|PMID:23886400|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24292679|PMID:24345843|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26376867|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26795104|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:27959697|PMID:28235761|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:28677221|PMID:28873162|PMID:29359449|PMID:29594054|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29785012|PMID:30287823|PMID:30528446|PMID:30614812|PMID:30659124|PMID:31336731|PMID:32238909|PMID:32350270|PMID:32378608|PMID:32442409|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:34308366|PMID:35227301|PMID:36988593|PMID:37090027|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9735393|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27147599|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9003816 Macrocephaly ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:10772390|PMID:21828076|PMID:25741868|PMID:28492532 8706988 Pten phosphatase and tensin homolog gene DOID:9003936 Cardiomegaly ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:16188065|REF_RGD_ID:2292549 8706988 Pten phosphatase and tensin homolog gene DOID:9003936 Cardiomegaly ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11448956|REF_RGD_ID:1581282 8706988 Pten phosphatase and tensin homolog gene DOID:9004009 Reperfusion Injury ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:17239858|REF_RGD_ID:2292538 8706988 Pten phosphatase and tensin homolog gene DOID:9004009 Reperfusion Injury ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038262 8706988 Pten phosphatase and tensin homolog gene DOID:9004118 Experimental Melanoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 8706988 Pten phosphatase and tensin homolog gene DOID:9004217 Nerve Sheath Neoplasms disease_progression ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:22700876|REF_RGD_ID:12859040 8706988 Pten phosphatase and tensin homolog gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple (human) PMID:11156411|REF_RGD_ID:12802357 8706988 Pten phosphatase and tensin homolog gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:17418409|REF_RGD_ID:2289817 8706988 Pten phosphatase and tensin homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8706988 Pten phosphatase and tensin homolog gene DOID:9004464 Skin Neoplasms ISO RGD:62287 D RGD:9068941 20210625 RGD PMID:21771908|REF_RGD_ID:127285609 8706988 Pten phosphatase and tensin homolog gene DOID:9004547 Thyroid Neoplasms ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:cds: (human) PMID:10793080|REF_RGD_ID:12832747 8706988 Pten phosphatase and tensin homolog gene DOID:9004547 Thyroid Neoplasms severity ISO RGD:69119 D RGD:9068941 20200609 RGD mRNA:decreased expression:thyroid gland (human) PMID:12203792|REF_RGD_ID:12832749 8706988 Pten phosphatase and tensin homolog gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21994956 8706988 Pten phosphatase and tensin homolog gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:61995 D RGD:9068941 20200609 RGD PMID:15929827|REF_RGD_ID:1581281 8706988 Pten phosphatase and tensin homolog gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:61995 D RGD:9068941 20200609 RGD associated with Arteriovenous Fistula PMID:22609523|REF_RGD_ID:12801498 8706988 Pten phosphatase and tensin homolog gene DOID:9004866 Ataxia ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:11726926|REF_RGD_ID:1302554 8706988 Pten phosphatase and tensin homolog gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:69119 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:10051160|PMID:12786840|PMID:16773562|PMID:17324556|PMID:17942903|PMID:18669439|PMID:19329485|PMID:20685300|PMID:21194675|PMID:21659347|PMID:23160955|PMID:25527629|PMID:25741868|PMID:27477328|PMID:28492532|PMID:29785012|PMID:30886105|PMID:31594918|PMID:32670512|PMID:33482532|PMID:34184188|PMID:9467011|PMID:9600246 8706988 Pten phosphatase and tensin homolog gene DOID:9005172 Lung Neoplasms ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909629|PMID:27980214 8706988 Pten phosphatase and tensin homolog gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:18381417|REF_RGD_ID:2292496 8706988 Pten phosphatase and tensin homolog gene DOID:9005369 Hepatomegaly ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:15199412|REF_RGD_ID:1302555 8706988 Pten phosphatase and tensin homolog gene DOID:9005396 Intimal Hyperplasia ameliorates ISO RGD:69119 D RGD:9068941 20210625 RGD associated with Carotid Artery Injuries, human gene in a rat model PMID:15569824|REF_RGD_ID:127285607 8706988 Pten phosphatase and tensin homolog gene DOID:9005466 Language Development Disorders ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 8706988 Pten phosphatase and tensin homolog gene DOID:9005612 Endometrial Intraepithelial Neoplasia ISO RGD:69119 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Atypical endometrial hyperplasia 8706988 Pten phosphatase and tensin homolog gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 8706988 Pten phosphatase and tensin homolog gene DOID:9006534 Nervous System Malformations ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:11918710|PMID:14518070|PMID:17392703|PMID:18558293|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10866302|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:16773562|PMID:17526801|PMID:17942903|PMID:18767981|PMID:1945792|PMID:19457929|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22595938|PMID:23335809|PMID:23361946|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25527629|PMID:25741868|PMID:26619011|PMID:26798346|PMID:27477328|PMID:27535533|PMID:28475857|PMID:28492532|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:31159747|PMID:32350270|PMID:32442409|PMID:33077954|PMID:9467011|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194575|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26362251|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29043291|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31336731|PMID:31594918|PMID:32037394|PMID:32190315|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521|PMID:27428751 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27426521 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27428751|PMID:27477328|PMID:27481051|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11355302|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873882|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18794879|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22962422|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27157322|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28086757|PMID:28135145|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28774669|PMID:28873162|PMID:29048666|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30528446|PMID:30614812|PMID:30720243|PMID:30993208|PMID:31006514|PMID:31144778|PMID:31159747|PMID:31209962|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32566746|PMID:33077954|PMID:33372952|PMID:33471991|PMID:33600059|PMID:33624935|PMID:7728760|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10698513|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11071384|PMID:11108659|PMID:11156408|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11684570|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16598737|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20186503|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20395440|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24004025|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31871109|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33876391|PMID:33887726|PMID:34625746|PMID:35227301|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:11939587|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12844284|PMID:12938083|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25022750|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34492006|PMID:34625746|PMID:35227301|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:36681873|PMID:36988593|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:36681873|PMID:36988593|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25326637|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:36681873|PMID:36988593|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31664961|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:36681873|PMID:36988593|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146|PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27221918|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31332282|PMID:31336731|PMID:31594918|PMID:31609537|PMID:31664961|PMID:31712222|PMID:31871109|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32832836|PMID:32885271|PMID:32959437|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34386506|PMID:34492006|PMID:34625746|PMID:35227301|PMID:35241692|PMID:35399540|PMID:36681873|PMID:36988593|PMID:37090027|PMID:37336910|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10051160|PMID:10051603|PMID:10076877|PMID:10232405|PMID:10234502|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10554022|PMID:10555148|PMID:10564676|PMID:10606430|PMID:10657643|PMID:10698513|PMID:10698713|PMID:10749983|PMID:10772390|PMID:10772829|PMID:10807691|PMID:10848731|PMID:10866302|PMID:10866658|PMID:10920277|PMID:10923032|PMID:1097835|PMID:10978354|PMID:11035045|PMID:11051241|PMID:11052475|PMID:11071384|PMID:11156408|PMID:11234884|PMID:11238682|PMID:11274365|PMID:11332402|PMID:11476841|PMID:11494117|PMID:11504908|PMID:11668501|PMID:11685670|PMID:11748304|PMID:11875759|PMID:11886535|PMID:11906179|PMID:11918710|PMID:12015762|PMID:12075083|PMID:12085208|PMID:12208743|PMID:12297295|PMID:12372056|PMID:12414663|PMID:12471211|PMID:12614768|PMID:12786840|PMID:12788938|PMID:12808147|PMID:12844284|PMID:12938083|PMID:1336932|PMID:14518070|PMID:14566704|PMID:14569134|PMID:14623110|PMID:14675182|PMID:14976311|PMID:15016963|PMID:15069681|PMID:15120218|PMID:15211648|PMID:15254419|PMID:15372512|PMID:15492994|PMID:15531530|PMID:15647370|PMID:15659546|PMID:15769473|PMID:15805158|PMID:15896465|PMID:15920539|PMID:15951562|PMID:15987703|PMID:16007494|PMID:16014636|PMID:16021145|PMID:16199547|PMID:16506206|PMID:16619501|PMID:16704655|PMID:16752378|PMID:16773562|PMID:16894538|PMID:16952599|PMID:17013611|PMID:17043057|PMID:17213812|PMID:17218260|PMID:17218261|PMID:17286265|PMID:17324556|PMID:17392703|PMID:17427195|PMID:17526800|PMID:17526801|PMID:17576681|PMID:17636424|PMID:17847000|PMID:17873119|PMID:17873882|PMID:17898811|PMID:17928923|PMID:17941496|PMID:17942903|PMID:17954274|PMID:18025323|PMID:18080326|PMID:18558293|PMID:18626099|PMID:18669439|PMID:18716620|PMID:18725974|PMID:18757403|PMID:18759867|PMID:18767981|PMID:18781614|PMID:18794879|PMID:18986487|PMID:19000654|PMID:19114656|PMID:19265751|PMID:19329485|PMID:19340001|PMID:19351834|PMID:19366826|PMID:19457929|PMID:19458356|PMID:19604110|PMID:19622968|PMID:19719509|PMID:19829307|PMID:19903786|PMID:19956187|PMID:19968660|PMID:20018398|PMID:20049735|PMID:20085938|PMID:20100827|PMID:20186503|PMID:20194734|PMID:20223021|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20533527|PMID:20538496|PMID:20600018|PMID:20619739|PMID:20685300|PMID:20712882|PMID:20718038|PMID:20785012|PMID:20862607|PMID:20881644|PMID:20926450|PMID:20940307|PMID:20962022|PMID:21103832|PMID:21138868|PMID:21190448|PMID:21194675|PMID:21291452|PMID:21333374|PMID:21343951|PMID:21417916|PMID:21532617|PMID:21536651|PMID:21633361|PMID:21659347|PMID:21822720|PMID:21828076|PMID:21869887|PMID:21956414|PMID:22005521|PMID:22076652|PMID:22162582|PMID:22162589|PMID:22171747|PMID:22261759|PMID:22266152|PMID:22281088|PMID:22320991|PMID:22327138|PMID:22371648|PMID:22375056|PMID:22381246|PMID:22413754|PMID:22469695|PMID:22479427|PMID:22491738|PMID:22503188|PMID:22505997|PMID:22520842|PMID:22536362|PMID:22558107|PMID:22595938|PMID:22628360|PMID:22703879|PMID:22911484|PMID:22962422|PMID:22970944|PMID:23066114|PMID:23085752|PMID:23117110|PMID:23124040|PMID:23160955|PMID:23161105|PMID:23315997|PMID:23335809|PMID:23349303|PMID:23361946|PMID:2338203|PMID:23382303|PMID:23399955|PMID:23423780|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23555315|PMID:23633456|PMID:23695273|PMID:23757202|PMID:23764071|PMID:23825907|PMID:23886400|PMID:23888040|PMID:23930209|PMID:23934111|PMID:23934601|PMID:24022303|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24099866|PMID:24123798|PMID:24136893|PMID:24345843|PMID:24375884|PMID:24379037|PMID:24404930|PMID:24468202|PMID:24483290|PMID:24498881|PMID:24500884|PMID:24561254|PMID:24647592|PMID:24656772|PMID:24656806|PMID:24721394|PMID:24728327|PMID:24744697|PMID:24763289|PMID:24766807|PMID:24778394|PMID:24809327|PMID:24830819|PMID:24901346|PMID:24905788|PMID:25132236|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25246819|PMID:25288137|PMID:25326635|PMID:25336918|PMID:25363760|PMID:25429968|PMID:25437057|PMID:25448478|PMID:25448481|PMID:25448482|PMID:25495427|PMID:25525159|PMID:25527629|PMID:25549896|PMID:25647146 8706988 Pten phosphatase and tensin homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25669429|PMID:25722288|PMID:25741868|PMID:25756585|PMID:25851949|PMID:25875300|PMID:25910213|PMID:25937288|PMID:25980754|PMID:26076150|PMID:26082588|PMID:26099045|PMID:26124082|PMID:26157835|PMID:26166433|PMID:26185318|PMID:26216063|PMID:26229595|PMID:26246517|PMID:26279303|PMID:26302980|PMID:26376867|PMID:26418532|PMID:26450531|PMID:26467025|PMID:26468640|PMID:26492180|PMID:26504226|PMID:26517354|PMID:26534844|PMID:26579216|PMID:26580448|PMID:26619011|PMID:26633542|PMID:26637798|PMID:26665196|PMID:26681312|PMID:26773036|PMID:26787237|PMID:26795104|PMID:26798346|PMID:26800850|PMID:26845104|PMID:26848951|PMID:26898890|PMID:26919320|PMID:26960334|PMID:27087592|PMID:27147599|PMID:27157322|PMID:27168869|PMID:27221918|PMID:27324988|PMID:27405757|PMID:27426521|PMID:27428751|PMID:27477328|PMID:27481051|PMID:27489861|PMID:27514801|PMID:27531073|PMID:27535533|PMID:27568332|PMID:27720647|PMID:27824329|PMID:27829222|PMID:27878467|PMID:27884173|PMID:27959697|PMID:27978560|PMID:28008555|PMID:28013114|PMID:28086757|PMID:28135145|PMID:28152038|PMID:28188106|PMID:28191890|PMID:28195393|PMID:28235761|PMID:28250423|PMID:28251007|PMID:28263302|PMID:28263967|PMID:28286253|PMID:28289760|PMID:28340209|PMID:28418444|PMID:28475857|PMID:28492532|PMID:28497778|PMID:28513612|PMID:28523199|PMID:28526761|PMID:28600779|PMID:28655553|PMID:28677221|PMID:28724667|PMID:28755079|PMID:28758351|PMID:28774669|PMID:28821194|PMID:28873162|PMID:29033429|PMID:29043291|PMID:29048666|PMID:29095814|PMID:29273943|PMID:29282348|PMID:29296277|PMID:29359340|PMID:29359449|PMID:29371908|PMID:29373119|PMID:29444762|PMID:29496690|PMID:29510612|PMID:29533785|PMID:29594054|PMID:29608813|PMID:29625052|PMID:29663862|PMID:29706350|PMID:29706633|PMID:29706646|PMID:29752200|PMID:29758562|PMID:29785012|PMID:29806868|PMID:29874181|PMID:29927861|PMID:29931205|PMID:29945567|PMID:29970488|PMID:30181857|PMID:30212499|PMID:30287823|PMID:30311369|PMID:30311380|PMID:30327747|PMID:30374176|PMID:30443844|PMID:30482242|PMID:30528446|PMID:30614812|PMID:30659124|PMID:30720243|PMID:30809968|PMID:30993208|PMID:31006514|PMID:31079897|PMID:31144778|PMID:31149344|PMID:31159747|PMID:31185301|PMID:31209962|PMID:31232187|PMID:31332282|PMID:31336731|PMID:31427284|PMID:31567591|PMID:31594918|PMID:31609537|PMID:31664961|PMID:31712222|PMID:31871109|PMID:31970404|PMID:32003824|PMID:32037394|PMID:32123317|PMID:32150788|PMID:32162695|PMID:32185379|PMID:32190315|PMID:32196895|PMID:32234455|PMID:32238909|PMID:32295079|PMID:32350270|PMID:32366478|PMID:32373528|PMID:32378608|PMID:32442409|PMID:32461654|PMID:32566746|PMID:32664367|PMID:32670512|PMID:32832836|PMID:32885271|PMID:32959437|PMID:32980694|PMID:33077954|PMID:33083010|PMID:33088792|PMID:33152507|PMID:33208383|PMID:33372952|PMID:33471991|PMID:33482532|PMID:33532886|PMID:33600059|PMID:33624935|PMID:33723755|PMID:33747896|PMID:33767182|PMID:33801456|PMID:33876391|PMID:33887726|PMID:34184188|PMID:34268892|PMID:34308366|PMID:34326862|PMID:34386506|PMID:34492006|PMID:34518631|PMID:34625746|PMID:34906515|PMID:34943931|PMID:35089076|PMID:35172517|PMID:35227301|PMID:35241692|PMID:35264596|PMID:35338148|PMID:35399540|PMID:35723418|PMID:35931053|PMID:36175890|PMID:36681873|PMID:36988593|PMID:37090027|PMID:37336910|PMID:37373496|PMID:7728760|PMID:8071972|PMID:8980400|PMID:9140396|PMID:9241266|PMID:9256433|PMID:9259288|PMID:9288766|PMID:9326929|PMID:9356475|PMID:9399897|PMID:9425889|PMID:9467011|PMID:9536098|PMID:9598803|PMID:9600246|PMID:9616126|PMID:9619835|PMID:9685848|PMID:9735393|PMID:9740666|PMID:9788441|PMID:9794233|PMID:9797362|PMID:9811831|PMID:9823298|PMID:9832031|PMID:9832032|PMID:9856571|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007364 Mouth Neoplasms ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant tumor of floor of mouth PMID:10866302|PMID:11051241|PMID:11504908|PMID:11948419|PMID:17942903|PMID:18767981|PMID:1945792|PMID:20085938|PMID:20926450|PMID:21822720|PMID:21824802|PMID:21828076|PMID:22327138|PMID:23399955|PMID:23470840|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27535533|PMID:28492532|PMID:28677221|PMID:29706350|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9007367 Septic Peritonitis ameliorates ISO RGD:62287 D RGD:9068941 20210625 RGD associated with Escherichia Coli Infections PMID:21521784|REF_RGD_ID:127285602 8706988 Pten phosphatase and tensin homolog gene DOID:9007417 Pseudomonas Infections exacerbates ISO RGD:62287 D RGD:9068941 20210625 RGD PMID:29246444|REF_RGD_ID:127285608 8706988 Pten phosphatase and tensin homolog gene DOID:9007502 Brain Neoplasms ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:10866302|PMID:10923032|PMID:11274365|PMID:11332402|PMID:11504908|PMID:11685670|PMID:11918710|PMID:14518070|PMID:16773562|PMID:17286265|PMID:17392703|PMID:17526800|PMID:17526801|PMID:18558293|PMID:18626099|PMID:18767981|PMID:18986487|PMID:19265751|PMID:20085938|PMID:20301661|PMID:20533527|PMID:21194675|PMID:21828076|PMID:21956414|PMID:22266152|PMID:22381246|PMID:22595938|PMID:22628360|PMID:23335809|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23633456|PMID:23695273|PMID:23764071|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24345843|PMID:24721394|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:26467025|PMID:27477328|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28655553|PMID:29594054|PMID:29874181|PMID:30287823|PMID:30614812|PMID:30659124|PMID:32238909|PMID:33077954|PMID:33083010|PMID:33372952|PMID:33600059|PMID:36988593|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9619835|PMID:9856571 8706988 Pten phosphatase and tensin homolog gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28823542 8706988 Pten phosphatase and tensin homolog gene DOID:9007653 Multiple Abnormalities ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18759867 8706988 Pten phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:61995 D RGD:9068941 20200609 RGD protein:increased expression, decreased acetylation:liver PMID:18385463|REF_RGD_ID:2292521 8706988 Pten phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18303120 8706988 Pten phosphatase and tensin homolog gene DOID:9007692 Insulin Resistance ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased activity:liver (human) PMID:24367090|REF_RGD_ID:127285595 8706988 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12888921|PMID:16402032|PMID:16804899|PMID:9326929 8706988 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:cds: (human) PMID:9765621|REF_RGD_ID:12832746 8706988 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms ISO RGD:69119 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:9354433|REF_RGD_ID:12832753 8706988 Pten phosphatase and tensin homolog gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:17317031|REF_RGD_ID:2292506 8706988 Pten phosphatase and tensin homolog gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038262 8706988 Pten phosphatase and tensin homolog gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:62287 D RGD:9068941 20210625 RGD PMID:20951693|REF_RGD_ID:127285611 8706988 Pten phosphatase and tensin homolog gene DOID:9008086 Developmental Disabilities ISO RGD:69119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26467025 8706988 Pten phosphatase and tensin homolog gene DOID:9008090 Chlamydiaceae Infections ISO RGD:62287 D RGD:9068941 20210625 RGD associated with Experimental Allergic Asthma;mRNA:decreased expression:lung (mouse) PMID:27448447|REF_RGD_ID:41404696 8706988 Pten phosphatase and tensin homolog gene DOID:9008114 Helicobacter Infections ISO RGD:69119 D RGD:9068941 20210625 RGD associated with gastritis;protein:increased phosphorylation:stomach (human) PMID:26376616|REF_RGD_ID:127285599 8706988 Pten phosphatase and tensin homolog gene DOID:9008138 Ductal Carcinoma ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 8706988 Pten phosphatase and tensin homolog gene DOID:9008237 Hemimegalencephaly ISO RGD:69119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:25741868 8706988 Pten phosphatase and tensin homolog gene DOID:9008443 Colorectal Neoplasms ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10400993|PMID:10555148|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20619739|PMID:20881644|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22479427|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23470840|PMID:23475934|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25527629|PMID:25741868|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26798346|PMID:27147599|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:30614812|PMID:31159747|PMID:31336731|PMID:32350270|PMID:32442409|PMID:33077954|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9008731 Craniofacial Abnormalities ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14574156|PMID:17427195|PMID:18759867|PMID:19265751|PMID:19321504|PMID:9286463 8706988 Pten phosphatase and tensin homolog gene DOID:9008939 Breast Neoplasms ISO RGD:69119 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10400993|PMID:10555148|PMID:10866302|PMID:10920277|PMID:10923032|PMID:11051241|PMID:11504908|PMID:11875759|PMID:11948419|PMID:1336932|PMID:15016963|PMID:15211648|PMID:15254419|PMID:15647370|PMID:16773562|PMID:16952599|PMID:17526800|PMID:17526801|PMID:17873882|PMID:17942903|PMID:18558293|PMID:18725974|PMID:18767981|PMID:19340001|PMID:19351834|PMID:19366826|PMID:1945792|PMID:19457929|PMID:19458356|PMID:19829307|PMID:19903786|PMID:20018398|PMID:20085938|PMID:20300775|PMID:20301661|PMID:20453058|PMID:20619739|PMID:20881644|PMID:20926450|PMID:21190448|PMID:21194675|PMID:21659347|PMID:21822720|PMID:21824802|PMID:21828076|PMID:21956414|PMID:22162582|PMID:22162589|PMID:22266152|PMID:22320991|PMID:22327138|PMID:22479427|PMID:22491738|PMID:22595938|PMID:23335809|PMID:23349303|PMID:23361946|PMID:23399955|PMID:23470840|PMID:23475934|PMID:24292679|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25527629|PMID:25741868|PMID:26467025|PMID:26619011|PMID:26773036|PMID:26798346|PMID:27426521|PMID:27477328|PMID:27535533|PMID:28286253|PMID:28475857|PMID:28492532|PMID:28526761|PMID:28677221|PMID:29359449|PMID:29706350|PMID:30311380|PMID:30528446|PMID:30614812|PMID:31159747|PMID:31336731|PMID:32350270|PMID:32442409|PMID:33077954|PMID:35227301|PMID:36988593|PMID:9140396|PMID:9241266|PMID:9259288|PMID:9399897|PMID:9467011|PMID:9598803|PMID:9915974 8706988 Pten phosphatase and tensin homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:69119 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11684570|PMID:11685670|PMID:14518070|PMID:17392703|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:24033266|PMID:24052722|PMID:24778394|PMID:25157968|PMID:25288137|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:30287823|PMID:30614812|PMID:32238909|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:69119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10232405|PMID:10353779|PMID:10400993|PMID:10468583|PMID:10749983|PMID:10848731|PMID:11685670|PMID:11918710|PMID:14518070|PMID:17392703|PMID:18558293|PMID:20301661|PMID:21956414|PMID:22381246|PMID:22595938|PMID:23442912|PMID:23470840|PMID:23475934|PMID:23695273|PMID:23934601|PMID:24033266|PMID:24052722|PMID:24055113|PMID:24778394|PMID:25157968|PMID:25326635|PMID:25549896|PMID:25669429|PMID:25741868|PMID:25756585|PMID:25980754|PMID:27477328|PMID:27959697|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29785012|PMID:30287823|PMID:30614812|PMID:32238909|PMID:32350270|PMID:32832836|PMID:32885271|PMID:33077954|PMID:33600059|PMID:9399897|PMID:9467011 8706988 Pten phosphatase and tensin homolog gene DOID:9256 colorectal cancer exacerbates ISO RGD:69119 D RGD:9068941 20210625 RGD protein:increased expression:colorectum, cytoplasm (human) PMID:27661110|REF_RGD_ID:127285614 8706988 Pten phosphatase and tensin homolog gene DOID:9351 diabetes mellitus ISO RGD:61995 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:inferior vena cava PMID:16961925|REF_RGD_ID:2292543 8706988 Pten phosphatase and tensin homolog gene DOID:936 brain disease ISO RGD:62287 D RGD:9068941 20220825 MouseDO 8706988 Pten phosphatase and tensin homolog gene DOID:9408 acute myocardial infarction ISO RGD:61995 D RGD:9068941 20210625 RGD mRNA:decreased expression:heart left ventricle (rat) PMID:26973267|REF_RGD_ID:11526378 8706988 Pten phosphatase and tensin homolog gene DOID:9408 acute myocardial infarction ISO RGD:69119 D RGD:9068941 20231026 RGD RNA:increased expression:serum PMID:32595526|REF_RGD_ID:401851053 8706988 Pten phosphatase and tensin homolog gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:62287 D RGD:9068941 20230202 RGD PMID:29990866|REF_RGD_ID:155882565 8706988 Pten phosphatase and tensin homolog gene DOID:9452 steatotic liver disease ISO RGD:61995 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18166358|REF_RGD_ID:2292522 8706988 Pten phosphatase and tensin homolog gene DOID:9452 steatotic liver disease ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:15199412|REF_RGD_ID:1302555 8706988 Pten phosphatase and tensin homolog gene DOID:9452 steatotic liver disease ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:228100 8706988 Pten phosphatase and tensin homolog gene DOID:9452 steatotic liver disease ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 8706988 Pten phosphatase and tensin homolog gene DOID:9452 steatotic liver disease ISO RGD:69119 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18166358|REF_RGD_ID:2292522 8706988 Pten phosphatase and tensin homolog gene DOID:9460 uterine corpus cancer ISO RGD:69119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:29706350|PMID:9256433 8706988 Pten phosphatase and tensin homolog gene DOID:9884 muscular dystrophy treatment ISO RGD:62287 D RGD:9068941 20200609 RGD PMID:24789910|REF_RGD_ID:12859039 8706988 Pten phosphatase and tensin homolog gene DOID:9923 developmental coordination disorder ISO RGD:69119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9286463 8706988 Pten phosphatase and tensin homolog gene DOID:9952 acute lymphoblastic leukemia ISO RGD:62287 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 8707008 Nfix nuclear factor I X gene DOID:0050858 Marshall-Smith syndrome ISO RGD:69161 D RGD:7240710 20180130 OMIM 8707008 Nfix nuclear factor I X gene DOID:0050858 Marshall-Smith syndrome ISO RGD:69161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome | ClinVar Annotator: match by term: NFIX-related condition PMID:16086394|PMID:16199547|PMID:17576681|PMID:20673863|PMID:20949508|PMID:22301465|PMID:23495138|PMID:24924640|PMID:25118028|PMID:25356970|PMID:25640679|PMID:25736188|PMID:25741868|PMID:26193383|PMID:26200704|PMID:26927468|PMID:27688808|PMID:28333917|PMID:28475857|PMID:28492532|PMID:29142766|PMID:29184170|PMID:29897170|PMID:31036916|PMID:33767182|PMID:8910820|PMID:9536098|PMID:9717599 8707008 Nfix nuclear factor I X gene DOID:0050990 episodic ataxia type 2 ISO RGD:69161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 8707008 Nfix nuclear factor I X gene DOID:0080833 laryngomalacia ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital laryngomalacia PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:69161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8707008 Nfix nuclear factor I X gene DOID:0111254 glutaric acidemia I ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8707008 Nfix nuclear factor I X gene DOID:0112102 Sotos syndrome 2 ISO RGD:69161 D RGD:7240710 20180130 OMIM 8707008 Nfix nuclear factor I X gene DOID:0112102 Sotos syndrome 2 ISO RGD:69161 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malan overgrowth syndrome PMID:20673863|PMID:20949508|PMID:22301465|PMID:24088041|PMID:24375697|PMID:24924640|PMID:25118028|PMID:25356970|PMID:25590979|PMID:25741868|PMID:26193383|PMID:26633545|PMID:28475857|PMID:28492532|PMID:28708303|PMID:29897170|PMID:31036916|PMID:33288889|PMID:8910820 8707008 Nfix nuclear factor I X gene DOID:1059 intellectual disability ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8707008 Nfix nuclear factor I X gene DOID:13300 Scheuermann's disease ISO RGD:69162 D RGD:9068941 20220825 MouseDO OMIM:181440 8707008 Nfix nuclear factor I X gene DOID:3413 alpha-mannosidosis ISO RGD:69161 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8707008 Nfix nuclear factor I X gene DOID:630 genetic disease ISO RGD:69161 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20673863|PMID:22301465|PMID:25356970|PMID:25741868|PMID:26193383|PMID:28492532|PMID:29897170|PMID:33767182|PMID:8910820 8707008 Nfix nuclear factor I X gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69161 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8707008 Nfix nuclear factor I X gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:69161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8707038 Dyrk2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:630 genetic disease ISO RGD:1323814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707038 Dyrk2 dual specificity tyrosine phosphorylation regulated kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:7240710 20200826 OMIM 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:27023906|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29620724|PMID:29931299|PMID:31674007|PMID:9683594 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319963 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:26477546|PMID:27023906|PMID:28229453|PMID:28492532|PMID:28649518|PMID:29230159|PMID:29443383|PMID:29620724|PMID:29931299|PMID:31614862|PMID:31674007|PMID:32381727|PMID:33631843|PMID:34529350|PMID:9683594 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319963 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1319963 D RGD:9068941 20200903 CTD CTD Direct Evidence: marker/mechanism 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity ISO RGD:1319963 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity PMID:25741868|PMID:28492532 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:1319963 D RGD:7240710 20190501 OMIM 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:1319963 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:23664117|PMID:23664118|PMID:24766538|PMID:25741868|PMID:27023906|PMID:28492532|PMID:29443383|PMID:29620724|PMID:32761602|PMID:33631843|PMID:34529350|PMID:35726512 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:0112280 spondyloepiphyseal dysplasia ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia PMID:24033266 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:630 genetic disease ISO RGD:1319963 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23664117|PMID:24766538|PMID:25741868|PMID:28492532|PMID:29443383 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:9000730 Al-Gazali Syndrome ISO RGD:1319963 D RGD:7240710 20221116 OMIM 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:9000730 Al-Gazali Syndrome ISO RGD:1319963 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Al-Gazali syndrome PMID:10319196|PMID:23664117|PMID:24766538|PMID:25149931|PMID:25741868|PMID:28492532|PMID:29443383|PMID:29931299|PMID:34529350 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8707059 B3galt6 beta-1,3-galactosyltransferase 6 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8707070 Nop14 NOP14 nucleolar protein gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1313732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8707070 Nop14 NOP14 nucleolar protein gene DOID:1856 cherubism ISO RGD:1313732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8707070 Nop14 NOP14 nucleolar protein gene DOID:630 genetic disease ISO RGD:1313732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707099 Znf512 zinc finger protein 512 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8707099 Znf512 zinc finger protein 512 gene DOID:630 genetic disease ISO RGD:1349628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707116 Bpifb6 BPI fold containing family B member 6 gene DOID:630 genetic disease ISO RGD:1323145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707134 Clic4 chloride intracellular channel 4 gene DOID:630 genetic disease ISO RGD:737114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707134 Clic4 chloride intracellular channel 4 gene DOID:8398 osteoarthritis ISO RGD:737114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8707134 Clic4 chloride intracellular channel 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8707134 Clic4 chloride intracellular channel 4 gene DOID:9004657 Weight Gain ISO RGD:737114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8707134 Clic4 chloride intracellular channel 4 gene DOID:9007661 Dwarfism ISO RGD:737114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8707153 Slitrk1 SLIT and NTRK like family member 1 gene DOID:0050587 trichotillomania ISO RGD:1318872 D RGD:7240710 20180130 OMIM 8707153 Slitrk1 SLIT and NTRK like family member 1 gene DOID:0050587 trichotillomania ISO RGD:1318872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Trichotillomania PMID:20301778|PMID:25741868 8707153 Slitrk1 SLIT and NTRK like family member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1318872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8707153 Slitrk1 SLIT and NTRK like family member 1 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1318872 D RGD:7240710 20180130 OMIM 8707153 Slitrk1 SLIT and NTRK like family member 1 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1318872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:17003809|PMID:17035247|PMID:18413575|PMID:19018236|PMID:20301778|PMID:20351724|PMID:22942103|PMID:23528612|PMID:23835198|PMID:23990902|PMID:25741868|PMID:27812321|PMID:28492532 8707153 Slitrk1 SLIT and NTRK like family member 1 gene DOID:630 genetic disease ISO RGD:1318872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707162 Thap4 THAP domain containing 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8707162 Thap4 THAP domain containing 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8707162 Thap4 THAP domain containing 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8707162 Thap4 THAP domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1342863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8707162 Thap4 THAP domain containing 4 gene DOID:630 genetic disease ISO RGD:1342863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707162 Thap4 THAP domain containing 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1342863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737474 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0070214 familial hyperinsulinemic hypoglycemia 7 ISO RGD:737474 D RGD:7240710 20180130 OMIM 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0070214 familial hyperinsulinemic hypoglycemia 7 ISO RGD:737474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7 PMID:11207177|PMID:17701893|PMID:18414213|PMID:19881260|PMID:25371203|PMID:25741868|PMID:25741869|PMID:26595136|PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0080600 COVID-19 ISO RGD:737474 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0080690 RASopathy ISO RGD:737474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:737474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:13938 amenorrhea ISO RGD:737474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:2018 hyperinsulinism ISO RGD:737474 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:25741868|PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737474 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:630 genetic disease ISO RGD:737474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9002353 Erythrocyte Lactate Transporter Defect ISO RGD:737474 D RGD:7240710 20180130 OMIM 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9002353 Erythrocyte Lactate Transporter Defect ISO RGD:737474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrocyte lactate transporter defect | ClinVar Annotator: match by term: LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO PMID:10590411|PMID:18414213|PMID:25390740|PMID:25741868|PMID:28492532|PMID:3775384 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9007395 Monocarboxylate Transporter 1 Deficiency ISO RGD:737474 D RGD:7240710 20180130 OMIM 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9007395 Monocarboxylate Transporter 1 Deficiency ISO RGD:737474 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal dominant | ClinVar Annotator: match by term: Monocarboxylate transporter 1 deficiency, autosomal recessive PMID:18414213|PMID:25390740|PMID:25741868|PMID:28492532 8707178 Slc16a1 solute carrier family 16 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:0080600 COVID-19 ISO RGD:733283 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:305 carcinoma ISO RGD:733283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:630 genetic disease ISO RGD:733283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619972 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 8707198 Alcam activated leukocyte cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8707232 Asic5 acid sensing ion channel subunit family member 5 gene DOID:630 genetic disease ISO RGD:736018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707232 Asic5 acid sensing ion channel subunit family member 5 gene DOID:9007479 Habitual Abortions ISO RGD:736018 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1320542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:630 genetic disease ISO RGD:1320542 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:34549350 8707244 Gigyf1 GRB10 interacting GYF protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320542 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194|PMID:34234147|PMID:34732801 8707316 Apom apolipoprotein M gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8707316 Apom apolipoprotein M gene DOID:11372 megacolon ISO RGD:1351807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8707316 Apom apolipoprotein M gene DOID:3393 coronary artery disease susceptibility ISO RGD:1351807 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) PMID:17674965|REF_RGD_ID:2314241 8707316 Apom apolipoprotein M gene DOID:630 genetic disease ISO RGD:1351807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707316 Apom apolipoprotein M gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551634 D RGD:9068941 20200609 RGD protein:decreased secretion:plasma PMID:16516154|REF_RGD_ID:2314249 8707316 Apom apolipoprotein M gene DOID:9006646 Metabolic Syndrome ISO RGD:1351807 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19539616|REF_RGD_ID:2314236 8707316 Apom apolipoprotein M gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1351807 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) PMID:16572495|REF_RGD_ID:2314248 8707316 Apom apolipoprotein M gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1351807 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-778T>C(rs805296)(human) PMID:19007767|REF_RGD_ID:2314238 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:630 genetic disease ISO RGD:1351231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 8707331 Bcas1 brain enriched myelin associated protein 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1351231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8707357 Tmem39a transmembrane protein 39A gene DOID:630 genetic disease ISO RGD:1353039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707374 Gss glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:9068941 20220224 RGD DNA:missense mutations:cds:multiple (human) PMID:9215686|REF_RGD_ID:1302516 8707374 Gss glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:9068941 20220224 RGD DNA:mutations: :multiple (human) PMID:8896573|REF_RGD_ID:1599324 8707374 Gss glutathione synthetase gene DOID:0080699 glutathione synthetase deficiency ISO RGD:735330 D RGD:9068941 20220303 CTD CTD Direct Evidence: marker/mechanism 8707374 Gss glutathione synthetase gene DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria ISO RGD:735330 D RGD:7240710 20220223 OMIM 8707374 Gss glutathione synthetase gene DOID:0112252 glutathione synthetase deficiency of erythrocytes ISO RGD:735330 D RGD:7240710 20180130 OMIM 8707374 Gss glutathione synthetase gene DOID:0112252 glutathione synthetase deficiency of erythrocytes ISO RGD:735330 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to PMID:11167850|PMID:15056072|PMID:15717202|PMID:25741868|PMID:28492532|PMID:5476481|PMID:8896573|PMID:9215686 8707374 Gss glutathione synthetase gene DOID:10652 Alzheimer's disease ISO RGD:735330 D RGD:9068941 20200609 RGD PMID:15693022|REF_RGD_ID:5508441 8707374 Gss glutathione synthetase gene DOID:2773 contact dermatitis ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8707374 Gss glutathione synthetase gene DOID:2843 long QT syndrome ISO RGD:735330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8707374 Gss glutathione synthetase gene DOID:305 carcinoma ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8707374 Gss glutathione synthetase gene DOID:403 mouth disease ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 8707374 Gss glutathione synthetase gene DOID:5419 schizophrenia ISO RGD:735330 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8707374 Gss glutathione synthetase gene DOID:630 genetic disease ISO RGD:735330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15717202|PMID:17479648|PMID:17576681|PMID:25741868|PMID:25851806|PMID:28492532|PMID:28822442|PMID:8896573|PMID:9536098 8707374 Gss glutathione synthetase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8707374 Gss glutathione synthetase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8707374 Gss glutathione synthetase gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2752 D RGD:9068941 20200609 RGD PMID:17897920|REF_RGD_ID:11353819 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:1826 epilepsy ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8707395 Metrn meteorin, glial cell differentiation regulator gene DOID:630 genetic disease ISO RGD:1353878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707427 Ep400 E1A binding protein p400 gene DOID:630 genetic disease ISO RGD:1312347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8707427 Ep400 E1A binding protein p400 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312347 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8707427 Ep400 E1A binding protein p400 gene DOID:9256 colorectal cancer ISO RGD:1312347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8707504 C8a complement C8 alpha chain gene DOID:0060301 type I complement component 8 deficiency ISO RGD:1318077 D RGD:7240710 20180130 OMIM 8707504 C8a complement C8 alpha chain gene DOID:0060301 type I complement component 8 deficiency ISO RGD:1318077 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Type I complement component 8 deficiency PMID:24033266|PMID:25741868|PMID:28492532|PMID:7649542|PMID:975502|PMID:9759902 8707504 C8a complement C8 alpha chain gene DOID:5844 myocardial infarction ISO RGD:1308355 D RGD:9068941 20200609 RGD PMID:7515561|REF_RGD_ID:1600501 8707504 C8a complement C8 alpha chain gene DOID:612 primary immunodeficiency disease ISO RGD:1318077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 8707504 C8a complement C8 alpha chain gene DOID:630 genetic disease ISO RGD:1318077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8707504 C8a complement C8 alpha chain gene DOID:9008538 Neisseriaceae Infections ISO RGD:1318077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 8707504 C8a complement C8 alpha chain gene DOID:9471 meningitis ISO RGD:1318077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9759902 8707537 Bspry B-box and SPRY domain containing gene DOID:630 genetic disease ISO RGD:1347567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:12849 autistic disorder ISO RGD:1350623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8707549 Timm17b translocase of inner mitochondrial membrane 17B gene DOID:630 genetic disease ISO RGD:1350623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707558 Rimoc1 RAB7A interacting MON1-CCZ1 complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8707577 Ddx18 DEAD-box helicase 18 gene DOID:630 genetic disease ISO RGD:1348568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:1059 intellectual disability ISO RGD:1317839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:2746 glycogen storage disease V ISO RGD:1317839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:3070 high grade glioma ISO RGD:1317839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:630 genetic disease ISO RGD:1317839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707596 Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317839 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 8707656 Mcrs1 microspherule protein 1 gene DOID:630 genetic disease ISO RGD:1323153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707681 Hdgfl3 HDGF like 3 gene DOID:630 genetic disease ISO RGD:1606795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707694 Kat2b lysine acetyltransferase 2B gene DOID:0060417 3p deletion syndrome ISO RGD:1314209 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8707694 Kat2b lysine acetyltransferase 2B gene DOID:1612 breast cancer severity ISO RGD:1314209 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 8707694 Kat2b lysine acetyltransferase 2B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314209 D RGD:9068941 20200609 RGD mRNA:decreased expression:esophagus (human) PMID:19525977|REF_RGD_ID:9590307 8707694 Kat2b lysine acetyltransferase 2B gene DOID:630 genetic disease ISO RGD:1314209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707694 Kat2b lysine acetyltransferase 2B gene DOID:684 hepatocellular carcinoma severity ISO RGD:1314209 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:23643089|REF_RGD_ID:9590314 8707694 Kat2b lysine acetyltransferase 2B gene DOID:7148 rheumatoid arthritis ISO RGD:1314209 D RGD:9068941 20230105 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:36104638|REF_RGD_ID:155791669 8707694 Kat2b lysine acetyltransferase 2B gene DOID:9000528 Coronary Disease severity ISO RGD:1314209 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2481G>C (human) PMID:21062767|REF_RGD_ID:9590309 8707726 Rnf175 ring finger protein 175 gene DOID:630 genetic disease ISO RGD:1348737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1315610 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22722839|REF_RGD_ID:9587749 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:10283 prostate cancer ISO RGD:1315610 D RGD:9068941 20200609 RGD DNA:deletions: : PMID:22179824|REF_RGD_ID:9587750 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1315610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1315610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315610 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008023 Memory Disorders ISO RGD:1315610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30728766 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008136 Pilarowski-Bjornsson Syndrome ISO RGD:1315610 D RGD:7240710 20190315 OMIM 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008136 Pilarowski-Bjornsson Syndrome ISO RGD:1315610 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pilarowski-Bjornsson syndrome PMID:25741868|PMID:28492532|PMID:28866611 8707748 Chd1 chromodomain helicase DNA binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1607073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:16199547|PMID:17187068|PMID:19036076|PMID:19499579|PMID:22624626|PMID:25741868|PMID:28492532|PMID:31589614|PMID:32054657|PMID:34426522 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:25741868|PMID:28492532 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607073 D RGD:7240710 20180130 OMIM 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607073 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:10581030|PMID:11519978|PMID:16199547|PMID:17187068|PMID:17576681|PMID:18055975|PMID:18330843|PMID:18337561|PMID:18611981|PMID:19036076|PMID:19118303|PMID:19499579|PMID:20065084|PMID:20177699|PMID:20182745|PMID:20220065|PMID:21108402|PMID:21344642|PMID:22102707|PMID:22624626|PMID:24482108|PMID:25326635|PMID:25741868|PMID:28102861|PMID:28454995|PMID:28492532|PMID:31321910|PMID:31589614|PMID:31980526|PMID:32005694|PMID:32054657|PMID:32581362|PMID:33381479|PMID:33560082|PMID:34134972|PMID:34426522|PMID:34826056|PMID:9536098 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:1227 neutropenia ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532|PMID:32581362 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:5812 MHC class II deficiency ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:630 genetic disease ISO RGD:1607073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17187068|PMID:18337561|PMID:19036076|PMID:20065084|PMID:20177699|PMID:20220065|PMID:22102707|PMID:24482108|PMID:25741868|PMID:28492532|PMID:32005694|PMID:33381479|PMID:34134972|PMID:34826056 8707790 Hax1 HCLS1 associated protein X-1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:12849 autistic disorder ISO RGD:1353638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8707822 Asmt acetylserotonin O-methyltransferase gene DOID:893 Wilson disease ISO RGD:1353638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8707836 Slc51a solute carrier family 51 member A gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8707836 Slc51a solute carrier family 51 member A gene DOID:12236 primary biliary cholangitis ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920 8707836 Slc51a solute carrier family 51 member A gene DOID:12849 autistic disorder ISO RGD:1604974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8707836 Slc51a solute carrier family 51 member A gene DOID:13580 cholestasis ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920|PMID:22461449 8707836 Slc51a solute carrier family 51 member A gene DOID:1561 cognitive disorder ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 8707836 Slc51a solute carrier family 51 member A gene DOID:5419 schizophrenia ISO RGD:1604974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8707836 Slc51a solute carrier family 51 member A gene DOID:630 genetic disease ISO RGD:1604974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707836 Slc51a solute carrier family 51 member A gene DOID:9002471 Progressive Familial Intrahepatic Cholestasis 6 ISO RGD:1604974 D RGD:7240710 20210825 OMIM 8707836 Slc51a solute carrier family 51 member A gene DOID:9002471 Progressive Familial Intrahepatic Cholestasis 6 ISO RGD:1604974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 6 PMID:25741868|PMID:31863603 8707836 Slc51a solute carrier family 51 member A gene DOID:9002661 Diabetes Complications ISO RGD:1604974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:0080600 COVID-19 ISO RGD:1354428 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8707854 Fkbp9 FKBP prolyl isomerase 9 gene DOID:630 genetic disease ISO RGD:1354428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707885 Syt16 synaptotagmin 16 gene DOID:630 genetic disease ISO RGD:1346455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707896 R3hcc1l R3H domain and coiled-coil containing 1 like gene DOID:630 genetic disease ISO RGD:1317417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707931 Med22 mediator complex subunit 22 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8707931 Med22 mediator complex subunit 22 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1606332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8707931 Med22 mediator complex subunit 22 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8707931 Med22 mediator complex subunit 22 gene DOID:0081097 Rafiq syndrome ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8707931 Med22 mediator complex subunit 22 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1606332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8707931 Med22 mediator complex subunit 22 gene DOID:3652 Leigh disease ISO RGD:1606332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8707931 Med22 mediator complex subunit 22 gene DOID:630 genetic disease ISO RGD:1606332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:0080918 polymicrogyria ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:29706646 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:5812 MHC class II deficiency ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:630 genetic disease ISO RGD:1606911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707944 Lingo4 leucine rich repeat and Ig domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:12449 aplastic anemia ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum,plasma: PMID:7492765|REF_RGD_ID:11049505 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:13636 Fanconi anemia ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum,plasma: PMID:7492765|REF_RGD_ID:11049505 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:1520 colon carcinoma treatment ISO RGD:1353824 D RGD:9068941 20200609 RGD PMID:10842197|REF_RGD_ID:11049504 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:1793 pancreatic cancer ISO RGD:2322792 D RGD:9068941 20200609 RGD PMID:16528542|REF_RGD_ID:11049499 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:3068 glioblastoma treatment ISO RGD:1353824 D RGD:9068941 20200609 RGD PMID:18079358|REF_RGD_ID:11049502 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:3070 high grade glioma treatment ISO RGD:1353824 D RGD:9068941 20200609 RGD PMID:15564139|REF_RGD_ID:11049500 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:4971 myelofibrosis ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:plasma, CD34+ cell, bone marrow fibroblast: PMID:21487043|REF_RGD_ID:11049484 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:5844 myocardial infarction treatment ISO RGD:1557069 D RGD:9068941 20200609 RGD PMID:24184252|REF_RGD_ID:11049498 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:630 genetic disease ISO RGD:1353824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:9000300 Refractory Anemia ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10214861|REF_RGD_ID:11049479 8707955 Flt3lg fms related receptor tyrosine kinase 3 ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1353824 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26521986|REF_RGD_ID:11075232 8707975 Casq1 calsequestrin 1 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:423 myopathy ISO RGD:1344349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 8707975 Casq1 calsequestrin 1 gene DOID:630 genetic disease ISO RGD:1344349 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:8545 malignant hyperthermia ISO RGD:1619288 D RGD:9068941 20230525 RGD PMID:19237502|REF_RGD_ID:329813080 8707975 Casq1 calsequestrin 1 gene DOID:9005189 Vacuolar Myopathy ISO RGD:1344349 D RGD:7240710 20180130 OMIM 8707975 Casq1 calsequestrin 1 gene DOID:9005189 Vacuolar Myopathy ISO RGD:1344349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CASQ1-related condition | ClinVar Annotator: match by term: Myopathy, vacuolar, with casq1 aggregates PMID:16714317|PMID:25116801|PMID:25741868|PMID:26136523|PMID:26416891|PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1586677 D RGD:9068941 20200609 RGD protein:increased activity:skeletal muscle tissue PMID:11976916|REF_RGD_ID:2314137 8707975 Casq1 calsequestrin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8707975 Casq1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:9068941 20200609 RGD DNA:SNP: :rs617698(human) PMID:18269685|REF_RGD_ID:2314133 8707975 Casq1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344349 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:15561962|PMID:15561963|REF_RGD_ID:2314135|REF_RGD_ID:2314136 8707975 Casq1 calsequestrin 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1344349 D RGD:9068941 20200609 RGD DNA:SNP: :rs2275703(human) PMID:17681849|REF_RGD_ID:2314134 8708010 Foxk2 forkhead box K2 gene DOID:12336 male infertility ISO RGD:1313423 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32522586 8708010 Foxk2 forkhead box K2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1313423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532 8708010 Foxk2 forkhead box K2 gene DOID:630 genetic disease ISO RGD:1313423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708022 Parvg parvin gamma gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8708022 Parvg parvin gamma gene DOID:1059 intellectual disability ISO RGD:1322037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8708022 Parvg parvin gamma gene DOID:630 genetic disease ISO RGD:1322037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708046 Cldn4 claudin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8708046 Cldn4 claudin 4 gene DOID:0060496 respiratory allergy ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 8708046 Cldn4 claudin 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8708046 Cldn4 claudin 4 gene DOID:12849 autistic disorder ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8708046 Cldn4 claudin 4 gene DOID:13976 peptic esophagitis ISO RGD:1307932 D RGD:9068941 20200609 RGD protein:altered localization:esophagus epithelium, cytoplasm PMID:16143882|REF_RGD_ID:2317602 8708046 Cldn4 claudin 4 gene DOID:1790 malignant mesothelioma ISO RGD:1317413 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 8708046 Cldn4 claudin 4 gene DOID:1793 pancreatic cancer ISO RGD:1317413 D RGD:9068941 20200609 RGD PMID:19555390|PMID:19793693|REF_RGD_ID:2317580|REF_RGD_ID:2317583 8708046 Cldn4 claudin 4 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1317413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8708046 Cldn4 claudin 4 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 8708046 Cldn4 claudin 4 gene DOID:2394 ovarian cancer ISO RGD:1317413 D RGD:9068941 20200609 RGD PMID:19555390|REF_RGD_ID:2317583 8708046 Cldn4 claudin 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 8708046 Cldn4 claudin 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1317413 D RGD:9068941 20200609 RGD PMID:15693851|REF_RGD_ID:2317592 8708046 Cldn4 claudin 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8708046 Cldn4 claudin 4 gene DOID:5419 schizophrenia ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8708046 Cldn4 claudin 4 gene DOID:630 genetic disease ISO RGD:1317413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708046 Cldn4 claudin 4 gene DOID:8445 intestinal volvulus ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8708046 Cldn4 claudin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:1307932 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:small intestine epithelium PMID:17375208|REF_RGD_ID:2317600 8708046 Cldn4 claudin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8708046 Cldn4 claudin 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 8708046 Cldn4 claudin 4 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1317413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8708046 Cldn4 claudin 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1317413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142967 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:5812 MHC class II deficiency ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:585 nephrolithiasis ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:630 genetic disease ISO RGD:1323634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708063 Paqr6 progestin and adipoQ receptor family member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:68493 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:18414213|PMID:20887963|PMID:25741868|PMID:25989977|PMID:28492532|PMID:35690514 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070169 spermatogenic failure 8 ISO RGD:68493 D RGD:7240710 20180130 OMIM 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070169 spermatogenic failure 8 ISO RGD:68493 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 8 PMID:20887963|PMID:25741868|PMID:25989977|PMID:28492532|PMID:35690514 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0070188 spermatogenic failure 1 ISO RGD:68493 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: OLIGOCHIASMATIC INFERTILITY | ClinVar Annotator: match by term: Oligosynaptic infertility PMID:10369247|PMID:11038323|PMID:12907682|PMID:16199547|PMID:17576681|PMID:17694559|PMID:17940071|PMID:19246354|PMID:19269353|PMID:20887963|PMID:22028768|PMID:22100173|PMID:22474171|PMID:22907560|PMID:23543655|PMID:23729601|PMID:24434652|PMID:25122490|PMID:25741868|PMID:25989977|PMID:26139438|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27610946|PMID:27899157|PMID:28032338|PMID:28033660|PMID:28130116|PMID:28326187|PMID:28492532|PMID:28938747|PMID:29027299|PMID:29190620|PMID:29582157|PMID:29935645|PMID:30067310|PMID:30406445|PMID:30425642|PMID:31831369|PMID:32008008|PMID:32655042|PMID:32738419|PMID:32985417|PMID:33351340|PMID:34095689|PMID:34461970|PMID:35690514|PMID:9536098 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0080864 primary ovarian insufficiency 7 ISO RGD:68493 D RGD:7240710 20180130 OMIM 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0080864 primary ovarian insufficiency 7 ISO RGD:68493 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: ADRENAL INSUFFICIENCY, NR5A1-RELATED | ClinVar Annotator: match by term: Premature ovarian failure 7 PMID:11038323|PMID:11932325|PMID:17940071|PMID:19246354|PMID:25741868|PMID:26523528|PMID:27855412|PMID:28492532|PMID:30067310|PMID:32655042|PMID:34008892 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:22028768|PMID:22907560|PMID:25122490|PMID:25741868|PMID:27169744|PMID:28492532|PMID:30425642 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:68494 D RGD:9068941 20220825 MouseDO 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0111764 46,XX sex reversal 4 ISO RGD:68493 D RGD:7240710 20200408 OMIM 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0111764 46,XX sex reversal 4 ISO RGD:68493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 46,XX sex reversal 4 PMID:11932325|PMID:25741868|PMID:26523528|PMID:27378692|PMID:27490115|PMID:27610946|PMID:27855412|PMID:28033660|PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:68493 D RGD:7240710 20200408 OMIM 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:68493 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED PMID:11932325|PMID:15070943|PMID:15472171|PMID:15579739|PMID:17200175|PMID:17576681|PMID:17694559|PMID:18414213|PMID:19246354|PMID:21691958|PMID:22028768|PMID:22474171|PMID:22549935|PMID:24434652|PMID:25122490|PMID:25326637|PMID:25741868|PMID:26523528|PMID:27169744|PMID:27378692|PMID:27490115|PMID:27610946|PMID:27855412|PMID:27899157|PMID:28033660|PMID:28492532|PMID:29095814|PMID:29935645|PMID:30425642|PMID:31513305|PMID:31745530|PMID:32738419|PMID:33202802|PMID:33351340|PMID:9536098 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:10892 hypospadias ISO RGD:68493 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:12336 male infertility ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20887963 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:14447 gonadal dysgenesis treatment ISO RGD:68350 D RGD:9068941 20200609 RGD PMID:16467257|REF_RGD_ID:12904919 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:14448 46,XY sex reversal ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369247|PMID:11932325|PMID:15070943 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246354 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:1923 disorder of sexual development ISO RGD:68493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:289 endometriosis ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17519303 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246354 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22028768|PMID:22907560|PMID:23154282|PMID:25122490|PMID:25383892|PMID:25741868|PMID:27169744|PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:22028768|PMID:22907560|PMID:25122490|PMID:25741868|PMID:27169744|PMID:28492532|PMID:30425642 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:630 genetic disease ISO RGD:68493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291911 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:68493 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development PMID:17694559|PMID:24434652|PMID:25741868|PMID:27899157|PMID:28492532 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:9008622 Adrenal Insufficiency ISO RGD:68493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369247 8708085 Nr5a1 nuclear receptor subfamily 5 group A member 1 gene DOID:905 Zellweger syndrome ISO RGD:68493 D RGD:9068941 20200609 RGD DNA:deletions, missense mutations, nonsense mutation: exon:multiple PMID:16141001|REF_RGD_ID:11062374 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:0060041 autism spectrum disorder ISO RGD:737085 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:737085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:737085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:737085 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:12849 autistic disorder ISO RGD:737085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:737085 D RGD:7240710 20180130 OMIM 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:14501 Sjogren-Larsson syndrome ISO RGD:737085 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10384396|PMID:10577908|PMID:10792573|PMID:10854114|PMID:11408337|PMID:15241804|PMID:15931689|PMID:16199547|PMID:16536828|PMID:16546179|PMID:16837225|PMID:16903323|PMID:17576681|PMID:17902024|PMID:17971613|PMID:17998529|PMID:18035827|PMID:19124283|PMID:19197545|PMID:19965611|PMID:20049467|PMID:21531120|PMID:21872273|PMID:21968182|PMID:22397046|PMID:23034980|PMID:23450279|PMID:24033266|PMID:25047030|PMID:25532748|PMID:25741868|PMID:25855245|PMID:27717089|PMID:28025403|PMID:28257279|PMID:28471629|PMID:28492532|PMID:29071827|PMID:29130490|PMID:29159939|PMID:29183715|PMID:29704247|PMID:30157790|PMID:30372562|PMID:30925032|PMID:31273323|PMID:31953843|PMID:32005694|PMID:32506993|PMID:8528251|PMID:9204959|PMID:9250352|PMID:9254849|PMID:9467812|PMID:9536098|PMID:9829906 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:630 genetic disease ISO RGD:737085 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8708100 Aldh3a2 aldehyde dehydrogenase 3 family member A2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:737085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 8708122 Efna1 ephrin A1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8708122 Efna1 ephrin A1 gene DOID:0111940 immunodeficiency 42 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8708122 Efna1 ephrin A1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8708122 Efna1 ephrin A1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:730990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8708122 Efna1 ephrin A1 gene DOID:1540 parathyroid carcinoma ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8708122 Efna1 ephrin A1 gene DOID:5812 MHC class II deficiency ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8708122 Efna1 ephrin A1 gene DOID:630 genetic disease ISO RGD:730990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708122 Efna1 ephrin A1 gene DOID:9008939 Breast Neoplasms ISO RGD:730990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154726 8708122 Efna1 ephrin A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0080422 Dravet syndrome ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0080600 COVID-19 ISO RGD:1606238 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:630 genetic disease ISO RGD:1606238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708132 Tnfaip8l2 TNF alpha induced protein 8 like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050451 Brugada syndrome ISO RGD:735686 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868|PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:735686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:735686 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS PMID:25741868|PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0050700 cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28240702|PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0060480 left ventricular noncompaction ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:735686 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:24798638|PMID:25741868|PMID:25835445|PMID:2618446|PMID:28425089|PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0070236 Loeys-Dietz syndrome 5 ISO RGD:735686 D RGD:7240710 20180130 OMIM 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0070236 Loeys-Dietz syndrome 5 ISO RGD:735686 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 5 | ClinVar Annotator: match by term: Rienhoff syndrome PMID:12529708|PMID:15639475|PMID:16199547|PMID:1631557|PMID:17576681|PMID:22943793|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:2618446|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28425089|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34076677|PMID:34659991|PMID:36973604|PMID:7737999|PMID:9536098|PMID:9683588 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:735686 D RGD:7240710 20180130 OMIM 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:735686 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:12529708|PMID:15639475|PMID:16199547|PMID:23824657|PMID:23861362|PMID:24798638|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:28087566|PMID:28166282|PMID:28492532|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31898322|PMID:32746448|PMID:32897753|PMID:36973604 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:1059 intellectual disability ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:10763 hypertension no_association ISO RGD:735686 D RGD:9068941 20200609 RGD DNA:polymorphism, SNPs PMID:15924806|REF_RGD_ID:1625704 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25637381|PMID:25741868|PMID:25835445|PMID:28492532|PMID:28798025|PMID:31568572 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:7737999|PMID:9536098|PMID:9683588 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29907982|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:7737999|PMID:9536098|PMID:9683588 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735686 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23824657|PMID:23861362|PMID:24125834|PMID:24238504|PMID:24798638|PMID:25136781|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:25835445|PMID:26184463|PMID:26188975|PMID:27848944|PMID:28087566|PMID:28166282|PMID:28240702|PMID:28492532|PMID:28798025|PMID:29109152|PMID:29247119|PMID:29392890|PMID:29551499|PMID:29907982|PMID:30675029|PMID:31568572|PMID:31898322|PMID:32746448|PMID:32897753|PMID:34659991|PMID:36973604|PMID:7737999|PMID:9536098|PMID:9683588 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:219 colon cancer disease_progression ISO RGD:735686 D RGD:9068941 20200609 RGD PMID:18360718|REF_RGD_ID:13432091 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:2843 long QT syndrome ISO RGD:735686 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:735686 D RGD:9068941 20221027 RGD protein:decreased expression:pancreas (human) PMID:8253361|REF_RGD_ID:155630628 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:630 genetic disease ISO RGD:735686 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30675029 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:674 cleft palate ISO RGD:733158 D RGD:9068941 20200609 RGD PMID:17097601|REF_RGD_ID:12801424 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:674 cleft palate ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26971374|PMID:7493022 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9001600 Wounds and Injuries ISO RGD:3851 D RGD:9068941 20200609 RGD PMID:18205704|REF_RGD_ID:2292158 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3851 D RGD:9068941 20230527 RGD mRNA:increased expression:carotic artery (rat) PMID:9622270|REF_RGD_ID:329845558 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9006836 Contracture ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:735686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9007870 Respiratory System Abnormalities ISO RGD:735686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7493022 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9008582 Developmental Disease ISO RGD:735686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:25835445|PMID:26188975|PMID:28492532|PMID:31898322 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9256 colorectal cancer treatment ISO RGD:735686 D RGD:9068941 20200609 RGD PMID:12778073|REF_RGD_ID:13432088 8708144 Tgfb3 transforming growth factor beta 3 gene DOID:9743 diabetic neuropathy ISO RGD:3851 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:sciatic nerve PMID:18406405|REF_RGD_ID:2302086 8708155 Rragb Ras related GTP binding B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8708155 Rragb Ras related GTP binding B gene DOID:12849 autistic disorder ISO RGD:1343212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8708155 Rragb Ras related GTP binding B gene DOID:630 genetic disease ISO RGD:1343212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1353525 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:16582910|PMID:16909392|PMID:18261905|PMID:18329934|PMID:19012992|PMID:20074988|PMID:20614188|PMID:22508010|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:28209105|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30273399|PMID:30298599|PMID:30833296|PMID:31673878|PMID:32703289|PMID:34476298|PMID:34979697 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1619253 D RGD:9068941 20220825 MouseDO OMIM:251880 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1353525 D RGD:7240710 20180130 OMIM 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1353525 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) PMID:16199547|PMID:16582910|PMID:16909392|PMID:17694548|PMID:18261905|PMID:18695062|PMID:19012992|PMID:19520594|PMID:20074988|PMID:22508010|PMID:22964873|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25016221|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:27848944|PMID:28207748|PMID:28209105|PMID:28492532|PMID:28673863|PMID:28776642|PMID:29282788|PMID:29318572|PMID:30273399|PMID:30298599|PMID:30782936|PMID:30833296|PMID:31319225|PMID:31673878|PMID:32703289|PMID:33258288|PMID:33486010|PMID:34476298|PMID:34979697 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0080337 mitochondrial DNA depletion syndrome 15 ISO RGD:1353525 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) PMID:16582910|PMID:16909392|PMID:17694548|PMID:19520594|PMID:23714749|PMID:23829229|PMID:25016221|PMID:25741868|PMID:26437932|PMID:27536553|PMID:28492532|PMID:28673863|PMID:29282788|PMID:30298599|PMID:31673878|PMID:34476298 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:1619253 D RGD:9068941 20220825 MouseDO OMIM:203780 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1353525 D RGD:7240710 20190515 OMIM 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1353525 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE PMID:16199547|PMID:16582910|PMID:16909392|PMID:17576681|PMID:17694548|PMID:18261905|PMID:18695062|PMID:19012992|PMID:19520594|PMID:20074988|PMID:22508010|PMID:22964873|PMID:23714749|PMID:23829229|PMID:24190800|PMID:25016221|PMID:25129007|PMID:25741868|PMID:25861990|PMID:26437932|PMID:26467025|PMID:26741492|PMID:27536553|PMID:27848944|PMID:28209105|PMID:28492532|PMID:28673863|PMID:29282788|PMID:29318572|PMID:30273399|PMID:30298599|PMID:30782936|PMID:30833296|PMID:31319225|PMID:31664948|PMID:31673878|PMID:32703289|PMID:33258288|PMID:33486010|PMID:34476298|PMID:34979697|PMID:9536098 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:10123 pigmentation disease ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:1184 nephrotic syndrome ISO RGD:1619253 D RGD:9068941 20220825 MouseDO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:5463 cochlear disease ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:576 proteinuria ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:630 genetic disease ISO RGD:1353525 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8708176 Mpv17 mitochondrial inner membrane protein MPV17 gene DOID:700 mitochondrial metabolism disease ISO RGD:1353525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818194 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050534 congenital stationary night blindness ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:28041643 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050572 cone-rod dystrophy ISO RGD:1352855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:30718709 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0050795 cone dystrophy ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:11857109|PMID:11875055|PMID:22264887|PMID:25741868|PMID:28492532|PMID:29785639 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110413 retinitis pigmentosa 6 ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 6 PMID:25741868 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:7240710 20180130 OMIM 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352855 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 PMID:10401007|PMID:10482958|PMID:10932196|PMID:10937588|PMID:10970770|PMID:11754050|PMID:11754051|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16387007|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19815619|PMID:19893586|PMID:20631154|PMID:21326217|PMID:21866333|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23681342|PMID:24033266|PMID:25356976|PMID:25741868|PMID:25741869|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28322733|PMID:28492532|PMID:29276052|PMID:29528978|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30193314|PMID:30289068|PMID:30567410|PMID:30622176|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32679846|PMID:32702353|PMID:33546218|PMID:34906470|PMID:34985506|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1352855 D RGD:7240710 20180130 OMIM 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1352855 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: X-linked cone-rod dystrophy | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1 PMID:10482958|PMID:10937588|PMID:11857109|PMID:11875055|PMID:12657579|PMID:15914600|PMID:16055928|PMID:16199547|PMID:16969763|PMID:18332319|PMID:22264887|PMID:23150612|PMID:24033266|PMID:25741868|PMID:26197217|PMID:28492532|PMID:29785639|PMID:31630094|PMID:31645972|PMID:31804667|PMID:32856788|PMID:34906470|PMID:35432464|PMID:8673101 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections ISO RGD:1352855 D RGD:7240710 20180130 OMIM 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections ISO RGD:1352855 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness PMID:10094550|PMID:14627685|PMID:16055928|PMID:1733835|PMID:25741868|PMID:8673101 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0112157 X-linked atrophic macular degeneration ISO RGD:1352855 D RGD:7240710 20180130 OMIM 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:0112157 X-linked atrophic macular degeneration ISO RGD:1352855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic PMID:12160730|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8673101 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10485 esophageal atresia ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:20861475|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12657579|PMID:16055928|PMID:16969763|PMID:17195164|PMID:17480003|PMID:23150612|PMID:23372056|PMID:25741868|PMID:26143542|PMID:27236918|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:8673101|PMID:8817343|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:8673101|PMID:8817343|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:10584 retinitis pigmentosa ISO RGD:1352855 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:12336 male infertility ISO RGD:1557212 D RGD:9068941 20200609 RGD PMID:18579752|REF_RGD_ID:8553213 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:12849 autistic disorder ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:14791 Leber congenital amaurosis treatment ISO RGD:1557212 D RGD:9068941 20200609 RGD PMID:20384479|REF_RGD_ID:8553217 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:4448 macular degeneration ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868|PMID:28041643 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:630 genetic disease ISO RGD:1352855 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:8466 retinal degeneration ISO RGD:1352855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430481 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:8466 retinal degeneration ISO RGD:1557212 D RGD:9068941 20200609 RGD PMID:15671266|REF_RGD_ID:8553201 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:8501 fundus dystrophy ISO RGD:1352855 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10480356|PMID:10932196|PMID:10937588|PMID:11180598|PMID:11754050|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12657579|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:18332319|PMID:19815619|PMID:20631154|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23372056|PMID:23681342|PMID:25741868|PMID:26197217|PMID:26872967|PMID:27596865|PMID:27620828|PMID:28322733|PMID:28492532|PMID:29528978|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30718709|PMID:30887160|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31213501|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32037395|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33467000|PMID:33576794|PMID:34906470|PMID:34985506|PMID:8673101|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1352855 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10946359|PMID:11180598|PMID:11754050|PMID:11793468|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16786505|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18332319|PMID:18487280|PMID:18552978|PMID:19138872|PMID:19218993|PMID:19475717|PMID:19783189|PMID:19815619|PMID:20631154|PMID:20861475|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22382802|PMID:22494545|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26261414|PMID:26747767|PMID:26766544|PMID:27620828|PMID:27768226|PMID:28041643|PMID:28127548|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:28912962|PMID:29276052|PMID:29453956|PMID:29528978|PMID:29555955|PMID:29641573|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30902645|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32788070|PMID:32856788|PMID:33090715|PMID:33355362|PMID:33546218|PMID:33576794|PMID:34906470|PMID:34946927|PMID:35892439|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9331262|PMID:9399904|PMID:9536098|PMID:9855162|PMID:9990021 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9004538 Hearing Loss ISO RGD:1352855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12920075 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9008680 Respiratory Tract Infections ISO RGD:1352855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12920075 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16055928|PMID:16786505|PMID:16969763|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8708204 Rpgr retinitis pigmentosa GTPase regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352855 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10946359|PMID:11180598|PMID:11754050|PMID:11793468|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16786505|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18332319|PMID:18487280|PMID:18552978|PMID:19138872|PMID:19218993|PMID:19475717|PMID:19783189|PMID:19815619|PMID:20631154|PMID:20861475|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22382802|PMID:22494545|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25097241|PMID:25283059|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26261414|PMID:26747767|PMID:26766544|PMID:27620828|PMID:27768226|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:28912962|PMID:29276052|PMID:29453956|PMID:29528978|PMID:29555955|PMID:29641573|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30902645|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32326409|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32788070|PMID:32856788|PMID:33090715|PMID:33355362|PMID:33546218|PMID:33576794|PMID:34906470|PMID:34946927|PMID:35806195|PMID:35836572|PMID:35892439|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9331262|PMID:9399904|PMID:9536098|PMID:9855162|PMID:9990021 8708231 Psph phosphoserine phosphatase gene DOID:0050724 PSPH deficiency ISO RGD:1318726 D RGD:7240710 20180130 OMIM 8708231 Psph phosphoserine phosphatase gene DOID:0050724 PSPH deficiency ISO RGD:1318726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:14673469|PMID:16199547|PMID:17576681|PMID:24146633|PMID:25080166|PMID:25741868|PMID:26589312|PMID:26633542|PMID:28492532|PMID:31515488|PMID:9222972|PMID:9536098 8708231 Psph phosphoserine phosphatase gene DOID:12849 autistic disorder ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8708231 Psph phosphoserine phosphatase gene DOID:1826 epilepsy ISO RGD:1318726 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8708231 Psph phosphoserine phosphatase gene DOID:2187 amelogenesis imperfecta ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital enamel hypoplasia PMID:28492532 8708231 Psph phosphoserine phosphatase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8708231 Psph phosphoserine phosphatase gene DOID:630 genetic disease ISO RGD:1318726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8708231 Psph phosphoserine phosphatase gene DOID:9008397 Maternal Phenylketonuria ISO RGD:1308764 D RGD:9068941 20200609 RGD PMID:7201630|REF_RGD_ID:2308873 8708231 Psph phosphoserine phosphatase gene DOID:9252 amino acid metabolic disorder ISO RGD:1318726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14673469 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1320262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1320262 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8708247 Rgl3 ral guanine nucleotide dissociation stimulator like 3 gene DOID:630 genetic disease ISO RGD:1320262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:0080054 achondrogenesis type IA ISO RGD:1344986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:0081063 DICER1 syndrome ISO RGD:1344986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:1059 intellectual disability ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:2843 long QT syndrome ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1344986 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:630 genetic disease ISO RGD:1344986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1344986 D RGD:7240710 20210303 OMIM 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Campeau syndrome PMID:25741868|PMID:33340455 8708275 Ubr7 ubiquitin protein ligase E3 component n-recognin 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1344986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:733882 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733882 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733882 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0081097 Rafiq syndrome ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:0110980 Joubert syndrome 1 ISO RGD:733882 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:1826 epilepsy ISO RGD:733882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:3652 Leigh disease ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:630 genetic disease ISO RGD:733882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:9005749 Necrosis ISO RGD:733882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16725115 8708291 Dpp7 dipeptidyl peptidase 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8708307 BARHL2 BarH like homeobox 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1344726 D RGD:9068941 20200609 RGD protein:decreased expression:mouth mucosa PMID:27542258|REF_RGD_ID:14390167 8708307 Barhl2 BarH like homeobox 2 gene DOID:10534 stomach cancer treatment ISO RGD:1344726 D RGD:9068941 20200609 RGD PMID:27441821|REF_RGD_ID:14392685 8708307 Barhl2 BarH like homeobox 2 gene DOID:630 genetic disease ISO RGD:1344726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708307 Barhl2 BarH like homeobox 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344726 D RGD:9068941 20200609 RGD associated with oral squamous cell carcinoma; mRNA:decreased expression:mouth mucosa PMID:27542258|REF_RGD_ID:14390167 8708307 Barhl2 BarH like homeobox 2 gene DOID:9256 colorectal cancer severity ISO RGD:1344726 D RGD:9068941 20200609 RGD PMID:27453340|REF_RGD_ID:14392684 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1320569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ISO RGD:1320569 D RGD:7240710 20180130 OMIM 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 ISO RGD:1320569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G PMID:15367920|PMID:17576681|PMID:24647604|PMID:25741868|PMID:28492532|PMID:30604053|PMID:33131168|PMID:9536098 8708318 Hnrnpdl heterogeneous nuclear ribonucleoprotein D like gene DOID:630 genetic disease ISO RGD:1320569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:0110878 holoprosencephaly 5 ISO RGD:736733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:14701 propionic acidemia ISO RGD:736733 D RGD:7240710 20180130 OMIM 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:14701 propionic acidemia ISO RGD:736733 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10101253|PMID:10329019|PMID:10518292|PMID:10780784|PMID:11592820|PMID:12385775|PMID:12559849|PMID:14960587|PMID:15059621|PMID:15164333|PMID:15235904|PMID:15464417|PMID:16023992|PMID:16199547|PMID:17051315|PMID:17576681|PMID:18414145|PMID:18790721|PMID:19099776|PMID:19157943|PMID:2037281|PMID:20493181|PMID:20549364|PMID:20725044|PMID:21094621|PMID:22033733|PMID:22156789|PMID:22334403|PMID:22593918|PMID:23053474|PMID:23348723|PMID:23430860|PMID:23648696|PMID:23757202|PMID:24033266|PMID:24059531|PMID:24464666|PMID:24863100|PMID:25047749|PMID:25636094|PMID:25640679|PMID:25741868|PMID:26740382|PMID:27227689|PMID:27489777|PMID:27776753|PMID:27825584|PMID:27900673|PMID:28492532|PMID:28712602|PMID:29033250|PMID:29978829|PMID:30159853|PMID:30186825|PMID:30209273|PMID:30274917|PMID:30705822|PMID:31063319|PMID:31249402|PMID:31319225|PMID:31757659|PMID:31828787|PMID:31893529|PMID:31916709|PMID:32252659|PMID:32619257|PMID:32778825|PMID:32819290|PMID:33028371|PMID:33473339|PMID:33726816|PMID:33923806|PMID:35095998|PMID:35331292|PMID:36662638|PMID:6790853|PMID:7915138|PMID:8083196|PMID:9385377|PMID:9536098|PMID:9887338 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:4621 holoprosencephaly ISO RGD:736733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:630 genetic disease ISO RGD:736733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15164333|PMID:15464417|PMID:16199547|PMID:23430860|PMID:25741868|PMID:27227689|PMID:28492532 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8708340 Pcca propionyl-CoA carboxylase subunit alpha gene DOID:9252 amino acid metabolic disorder ISO RGD:736733 D RGD:9068941 20200609 RGD propionic acidemia, OMIM:606054, DNA:deletion:intron:1824delAAGT PMID:9385377|REF_RGD_ID:1600306 8708382 Thap1 THAP domain containing 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1316870 D RGD:7240710 20180130 OMIM 8708382 Thap1 THAP domain containing 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1316870 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:17576681|PMID:19182804|PMID:19345147|PMID:19345148|PMID:19763152|PMID:19908320|PMID:20083799|PMID:20211909|PMID:20307669|PMID:20669277|PMID:20687191|PMID:20687193|PMID:20865765|PMID:20925076|PMID:21495072|PMID:21520283|PMID:21538522|PMID:21752024|PMID:21782490|PMID:21793105|PMID:21839475|PMID:21847143|PMID:22377579|PMID:22406018|PMID:22844099|PMID:22903657|PMID:23036512|PMID:23180184|PMID:24500857|PMID:24757586|PMID:24936516|PMID:24976531|PMID:25088175|PMID:25741868|PMID:26087139|PMID:26467025|PMID:26486352|PMID:26506956|PMID:26610312|PMID:27123488|PMID:27913194|PMID:28492532|PMID:28697333|PMID:29520331|PMID:31153764|PMID:31817799|PMID:33175450|PMID:33369735|PMID:9536098 8708382 Thap1 THAP domain containing 1 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 8708382 Thap1 THAP domain containing 1 gene DOID:0111959 immunodeficiency 15B ISO RGD:1316870 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8708382 Thap1 THAP domain containing 1 gene DOID:543 dystonia ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8708382 Thap1 THAP domain containing 1 gene DOID:630 genetic disease ISO RGD:1316870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20211909|PMID:24757586|PMID:25741868|PMID:26467025|PMID:28492532 8708382 Thap1 THAP domain containing 1 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 8708382 Thap1 THAP domain containing 1 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1316870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1345092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1345092 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:1059 intellectual disability ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:12177 common variable immunodeficiency ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:2729 dyskeratosis congenita ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1345092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1345092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8708389 Slc35g6 solute carrier family 35 member G6 gene DOID:630 genetic disease ISO RGD:1345092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708397 Coil coilin gene DOID:0110980 Joubert syndrome 1 ISO RGD:735624 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8708397 Coil coilin gene DOID:630 genetic disease ISO RGD:735624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708415 Pmvk phosphomevalonate kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8708415 Pmvk phosphomevalonate kinase gene DOID:0111940 immunodeficiency 42 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8708415 Pmvk phosphomevalonate kinase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8708415 Pmvk phosphomevalonate kinase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321931 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8708415 Pmvk phosphomevalonate kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8708415 Pmvk phosphomevalonate kinase gene DOID:3805 porokeratosis ISO RGD:1321931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Linear porokeratosis PMID:25741868|PMID:30942823 8708415 Pmvk phosphomevalonate kinase gene DOID:5812 MHC class II deficiency ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8708415 Pmvk phosphomevalonate kinase gene DOID:630 genetic disease ISO RGD:1321931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708415 Pmvk phosphomevalonate kinase gene DOID:9007627 Porokeratosis 1, Multiple Types ISO RGD:1321931 D RGD:7240710 20180130 OMIM 8708415 Pmvk phosphomevalonate kinase gene DOID:9007627 Porokeratosis 1, Multiple Types ISO RGD:1321931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Porokeratosis 1, multiple types | ClinVar Annotator: match by term: Porokeratosis of Mibelli PMID:25741868|PMID:26202976|PMID:30942823 8708415 Pmvk phosphomevalonate kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8708424 Wdr76 WD repeat domain 76 gene DOID:2717 Bloom syndrome ISO RGD:1605336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8708424 Wdr76 WD repeat domain 76 gene DOID:630 genetic disease ISO RGD:1605336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708424 Wdr76 WD repeat domain 76 gene DOID:684 hepatocellular carcinoma ISO RGD:1605336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8708424 Wdr76 WD repeat domain 76 gene DOID:9256 colorectal cancer ISO RGD:1605336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:2717 Bloom syndrome ISO RGD:1602211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:5419 schizophrenia ISO RGD:1602211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:630 genetic disease ISO RGD:1602211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708441 Ccdc33 coiled-coil domain containing 33 gene DOID:9256 colorectal cancer ISO RGD:1602211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8708520 Slain1 SLAIN motif family member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1603921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8708520 Slain1 SLAIN motif family member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 8708520 Slain1 SLAIN motif family member 1 gene DOID:630 genetic disease ISO RGD:1603921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708539 Tex13b testis expressed 13B gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1347068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8708539 Tex13b testis expressed 13B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8708539 Tex13b testis expressed 13B gene DOID:12849 autistic disorder ISO RGD:1347068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8708539 Tex13b testis expressed 13B gene DOID:630 genetic disease ISO RGD:1347068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708546 Catsperg cation channel sperm associated auxiliary subunit gamma gene DOID:630 genetic disease ISO RGD:1322128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708577 Triqk triple QxxK/R motif containing gene DOID:630 genetic disease ISO RGD:2299991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708601 Jade2 jade family PHD finger 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8708601 Jade2 jade family PHD finger 2 gene DOID:630 genetic disease ISO RGD:1319333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708601 Jade2 jade family PHD finger 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8708601 Jade2 jade family PHD finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8708601 Jade2 jade family PHD finger 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8708601 Jade2 jade family PHD finger 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8708639 Tubb1 tubulin beta 1 class VI gene DOID:0050328 congenital hypothyroidism ISO RGD:1345439 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868|PMID:28492532|PMID:28983057|PMID:30446499|PMID:32757236|PMID:34516618 8708639 Tubb1 tubulin beta 1 class VI gene DOID:0060651 MYH-9 related disease ISO RGD:1345439 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss PMID:25741868 8708639 Tubb1 tubulin beta 1 class VI gene DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related ISO RGD:1345439 D RGD:7240710 20180130 OMIM 8708639 Tubb1 tubulin beta 1 class VI gene DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related ISO RGD:1345439 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 1, autosomal dominant | ClinVar Annotator: match by term: TUBB1-related condition PMID:18849486|PMID:24344610|PMID:24777453|PMID:25741868|PMID:27346686|PMID:27479822|PMID:27905099|PMID:28054583|PMID:28492532|PMID:28983057|PMID:30446499|PMID:31064749|PMID:31249973|PMID:31565851|PMID:32757236|PMID:32892537|PMID:33400601|PMID:34355501|PMID:34516618 8708639 Tubb1 tubulin beta 1 class VI gene DOID:1588 thrombocytopenia ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24777453|PMID:25741868|PMID:27346686|PMID:28054583|PMID:28492532|PMID:31064749|PMID:31249973|PMID:32757236|PMID:34516618 8708639 Tubb1 tubulin beta 1 class VI gene DOID:2213 hemorrhagic disease ISO RGD:1345439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:18849486|PMID:25741868|PMID:27479822|PMID:28492532|PMID:32892537|PMID:32935436|PMID:33400601 8708639 Tubb1 tubulin beta 1 class VI gene DOID:630 genetic disease ISO RGD:1345439 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8708639 Tubb1 tubulin beta 1 class VI gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8708647 Gda guanine deaminase gene DOID:10534 stomach cancer ISO RGD:734048 D RGD:9068941 20220616 RGD protein:increased expression:stomach: PMID:8076377|REF_RGD_ID:152995290 8708647 Gda guanine deaminase gene DOID:305 carcinoma ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8708647 Gda guanine deaminase gene DOID:630 genetic disease ISO RGD:734048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708647 Gda guanine deaminase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8708647 Gda guanine deaminase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8708647 Gda guanine deaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8708675 Ttc6 tetratricopeptide repeat domain 6 gene DOID:0050778 Meckel syndrome ISO RGD:1323287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 8708675 Ttc6 tetratricopeptide repeat domain 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323287 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1604541 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1604541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1604541 D RGD:7240710 20180130 OMIM 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1604541 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome PMID:22492562|PMID:23008233|PMID:24706556|PMID:25058219|PMID:25741868|PMID:26741492|PMID:26780086|PMID:26893310|PMID:27117034|PMID:27290639|PMID:28492532|PMID:28748214|PMID:28748215|PMID:28973083|PMID:31520968|PMID:31665838|PMID:32887222|PMID:33128823|PMID:33258288|PMID:33855712|PMID:33962821|PMID:33972171|PMID:34440436|PMID:37377599 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604541 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22492562|PMID:25058219|PMID:25741868|PMID:26780086|PMID:26893310|PMID:28492532|PMID:28748214|PMID:28748215|PMID:31520968|PMID:33128823 8708707 Ears2 glutamyl-tRNA synthetase 2, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1604541 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22492562|PMID:25058219|PMID:25741868|PMID:26893310|PMID:28492532 8708735 Cep63 centrosomal protein 63 gene DOID:0050569 Seckel syndrome ISO RGD:1617588 D RGD:9068941 20220825 MouseDO 8708735 Cep63 centrosomal protein 63 gene DOID:0070006 Seckel syndrome 6 ISO RGD:1602096 D RGD:7240710 20180130 OMIM 8708735 Cep63 centrosomal protein 63 gene DOID:0070006 Seckel syndrome 6 ISO RGD:1602096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seckel syndrome 6 PMID:16199547|PMID:21983783|PMID:23936128|PMID:25741868|PMID:26158450|PMID:28492532 8708735 Cep63 centrosomal protein 63 gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1602096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 7 PMID:25741868|PMID:27484770|PMID:27485408|PMID:30591934 8708735 Cep63 centrosomal protein 63 gene DOID:10907 microcephaly ISO RGD:1602096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983783 8708735 Cep63 centrosomal protein 63 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1602096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28488683 8708735 Cep63 centrosomal protein 63 gene DOID:630 genetic disease ISO RGD:1602096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21983783|PMID:23936128|PMID:26158450|PMID:28492532 8708735 Cep63 centrosomal protein 63 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8708772 Amotl1 angiomotin like 1 gene DOID:1059 intellectual disability ISO RGD:1313196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8708772 Amotl1 angiomotin like 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1313196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8708772 Amotl1 angiomotin like 1 gene DOID:3070 high grade glioma ISO RGD:1313196 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 8708772 Amotl1 angiomotin like 1 gene DOID:630 genetic disease ISO RGD:1313196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708772 Amotl1 angiomotin like 1 gene DOID:9000918 Disease Progression ISO RGD:1313196 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 8708772 Amotl1 angiomotin like 1 gene DOID:9003133 Hypertelorism ISO RGD:1313196 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:28492532|PMID:33026150|PMID:36751037 8708772 Amotl1 angiomotin like 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313196 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480788 8708813 Gml glycosylphosphatidylinositol anchored molecule like gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 8708813 Gml glycosylphosphatidylinositol anchored molecule like gene DOID:12849 autistic disorder ISO RGD:1317284 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism 8708813 Gml glycosylphosphatidylinositol anchored molecule like gene DOID:4621 holoprosencephaly ISO RGD:1317284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8708813 Gml glycosylphosphatidylinositol anchored molecule like gene DOID:630 genetic disease ISO RGD:1317284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708824 Itm2c integral membrane protein 2C gene DOID:0060476 Perlman syndrome ISO RGD:1319877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8708824 Itm2c integral membrane protein 2C gene DOID:0110991 Joubert syndrome 22 ISO RGD:1319877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8708824 Itm2c integral membrane protein 2C gene DOID:630 genetic disease ISO RGD:1319877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708842 Pecr peroxisomal trans-2-enoyl-CoA reductase gene DOID:1059 intellectual disability ISO RGD:1603637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8708842 Pecr peroxisomal trans-2-enoyl-CoA reductase gene DOID:630 genetic disease ISO RGD:1603637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708842 Pecr peroxisomal trans-2-enoyl-CoA reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8708855 Actl10 actin like 10 gene DOID:2843 long QT syndrome ISO RGD:1346529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8708855 Actl10 actin like 10 gene DOID:630 genetic disease ISO RGD:1346529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708859 Emid1 EMI domain containing 1 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1349411 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8708859 Emid1 EMI domain containing 1 gene DOID:630 genetic disease ISO RGD:1349411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708859 Emid1 EMI domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8708903 Ndst4 N-deacetylase and N-sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1315201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8708903 Ndst4 N-deacetylase and N-sulfotransferase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8708921 Polq DNA polymerase theta gene DOID:0080600 COVID-19 ISO RGD:1320324 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8708921 Polq DNA polymerase theta gene DOID:3307 teratoma ISO RGD:1320324 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8708921 Polq DNA polymerase theta gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8708921 Polq DNA polymerase theta gene DOID:630 genetic disease ISO RGD:1320324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8708921 Polq DNA polymerase theta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8708921 Polq DNA polymerase theta gene DOID:9270 alkaptonuria ISO RGD:1320324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:10199 D RGD:9068941 20210409 RGD PMID:27421701|REF_RGD_ID:126779562 8708960 Atm ATM serine/threonine kinase gene DOID:0050671 female breast cancer susceptibility ISO RGD:1606040 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 8708960 Atm ATM serine/threonine kinase gene DOID:0050746 mantle cell lymphoma ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mantle cell lymphoma PMID:10706620|PMID:23807571|PMID:25614872|PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 8708960 Atm ATM serine/threonine kinase gene DOID:0050753 cerebellar ataxia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:12810666|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28488180|PMID:28492532|PMID:29909963|PMID:31050087|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:increased expression:mucosa of oral region (human) PMID:18288488|PMID:29928356|REF_RGD_ID:150340604|REF_RGD_ID:150340709 8708960 Atm ATM serine/threonine kinase gene DOID:0060058 lymphoma ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:28007901|REF_RGD_ID:12879399 8708960 Atm ATM serine/threonine kinase gene DOID:0060058 lymphoma ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:27895165|REF_RGD_ID:12879393 8708960 Atm ATM serine/threonine kinase gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8708960 Atm ATM serine/threonine kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:decreased expression:hepatocyte PMID:11751435|REF_RGD_ID:1599367 8708960 Atm ATM serine/threonine kinase gene DOID:0070271 Lynch syndrome 1 ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868 8708960 Atm ATM serine/threonine kinase gene DOID:0080158 herpes simplex virus keratitis ameliorates ISO RGD:10199 D RGD:9068941 20210416 RGD PMID:24370835|REF_RGD_ID:126781690 8708960 Atm ATM serine/threonine kinase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8708960 Atm ATM serine/threonine kinase gene DOID:0080875 IDH-mutant anaplastic astrocytoma ISO RGD:1606040 D RGD:8554872 20240123 ClinVar ClinVar Annotator: match by term: Astrocytoma IDH-mutant PMID:19781682|PMID:25503501|PMID:25741868|PMID:28492532|PMID:28779002 8708960 Atm ATM serine/threonine kinase gene DOID:0080904 astroblastoma, MN1-altered ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Astroblastoma, MN1-altered PMID:17344846|PMID:20305132|PMID:25741868|PMID:25980754|PMID:26206375|PMID:26467025|PMID:26689913|PMID:26787654|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28779002|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31920950|PMID:32606146|PMID:33471991|PMID:34284872|PMID:35886069 8708960 Atm ATM serine/threonine kinase gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: T-cell prolymphocytic leukemia PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12072552|PMID:12195425|PMID:12552559|PMID:12969974|PMID:14562025|PMID:16652348|PMID:16832357|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23807571|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32427313|PMID:32748564|PMID:32853339|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:34117267|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9537233|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:1606040 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:25741868 8708960 Atm ATM serine/threonine kinase gene DOID:10283 prostate cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:10534 stomach cancer ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11756177|PMID:12149228|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15390180|PMID:15843990|PMID:15928302|PMID:16199547|PMID:16266405|PMID:16941484|PMID:17124347|PMID:17376192|PMID:17576681|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18431795|PMID:18560558|PMID:18573109|PMID:18634022|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19691550|PMID:19781682|PMID:20153123|PMID:20301790|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21792198|PMID:21933854|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22213089|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23807571|PMID:24172824|PMID:24368146|PMID:24405665|PMID:24789685|PMID:24935205|PMID:24954719|PMID:25037873|PMID:25077176|PMID:25122203|PMID:25186627|PMID:25303977|PMID:25374739|PMID:25525159|PMID:25614872|PMID:25625042|PMID:25741868|PMID:26022348|PMID:26094658|PMID:26098866|PMID:26270727|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26628246|PMID:26677768|PMID:26681312|PMID:26846839|PMID:26896183|PMID:27121310|PMID:27159176|PMID:27433846|PMID:27664052|PMID:27732944|PMID:27779110|PMID:27884168|PMID:27913932|PMID:27989354|PMID:28126470|PMID:28139868|PMID:28152038|PMID:28195393|PMID:28281021|PMID:28492532|PMID:28497333|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28843361|PMID:29368341|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29731985|PMID:29752822|PMID:29906526|PMID:29909963|PMID:29922827|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30287823|PMID:30322717|PMID:30338439|PMID:30402232|PMID:30549301|PMID:30607632|PMID:30620386|PMID:30697212|PMID:30772474|PMID:30816533|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31118792|PMID:31139954|PMID:31214711|PMID:31263571|PMID:31382929|PMID:31447099|PMID:31472684|PMID:31589614|PMID:31611883|PMID:31691010|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31843900|PMID:31882575|PMID:31948886|PMID:32002120|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32521533|PMID:32566746|PMID:32694154|PMID:32754152|PMID:32810930|PMID:32853339|PMID:32885271|PMID:32918381|PMID:32962506|PMID:32980694|PMID:33239428|PMID:33280026|PMID:33436325|PMID:33471991|PMID:33552952|PMID:34247626|PMID:34377931|PMID:34680501|PMID:34755017|PMID:34873480|PMID:34949663|PMID:35220195|PMID:35260754|PMID:36029002|PMID:36704080|PMID:36988593|PMID:37239058|PMID:37445923|PMID:7792600|PMID:8698354|PMID:8755918|PMID:8808599|PMID:8845835|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9711876|PMID:9872980|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:10534 stomach cancer severity ISO RGD:1606040 D RGD:9068941 20210827 RGD protein:decreased expression:mucosa of stomach (human) PMID:23649938|REF_RGD_ID:150340700 8708960 Atm ATM serine/threonine kinase gene DOID:10534 stomach cancer severity ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:decreased phosphorylation:stomach (human) PMID:17928013|REF_RGD_ID:150340715 8708960 Atm ATM serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8708960 Atm ATM serine/threonine kinase gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1606040 D RGD:9068941 20200609 RGD PMID:23861893|REF_RGD_ID:10047419 8708960 Atm ATM serine/threonine kinase gene DOID:10907 microcephaly ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:19781682|PMID:25741868|PMID:28492532|PMID:30287823|PMID:31871109|PMID:32068069|PMID:32566746|PMID:33471991 8708960 Atm ATM serine/threonine kinase gene DOID:11054 urinary bladder cancer ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10864201|PMID:10980530|PMID:12400598|PMID:12815592|PMID:14695534|PMID:15039971|PMID:15843990|PMID:16199547|PMID:16941484|PMID:17124347|PMID:17910737|PMID:18560558|PMID:19431188|PMID:19691550|PMID:20308662|PMID:20966255|PMID:21150274|PMID:21665257|PMID:22649200|PMID:23322442|PMID:23454770|PMID:23807571|PMID:24549055|PMID:24763289|PMID:25077176|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26628246|PMID:26757417|PMID:26896183|PMID:27153395|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29360161|PMID:29371908|PMID:29506128|PMID:29922827|PMID:30287823|PMID:30303537|PMID:30549301|PMID:30772474|PMID:30982232|PMID:31050087|PMID:31350202|PMID:32068069|PMID:32566746|PMID:32676327|PMID:33048355|PMID:33471991|PMID:36988593|PMID:8755918|PMID:9043869|PMID:9450874|PMID:9463314|PMID:9497252|PMID:9733514 8708960 Atm ATM serine/threonine kinase gene DOID:11476 osteoporosis ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:16644862|REF_RGD_ID:10047420 8708960 Atm ATM serine/threonine kinase gene DOID:1240 leukemia ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:28007901|REF_RGD_ID:12879399 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:7240710 20240214 OMIM 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35201558|PMID:35260754|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36167400|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37149759|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34680501|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218 8708960 Atm ATM serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36000185|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 8708960 Atm ATM serine/threonine kinase gene DOID:1319 brain cancer ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Brain cancer PMID:32885271 8708960 Atm ATM serine/threonine kinase gene DOID:1380 endometrial cancer susceptibility ISO RGD:1606040 D RGD:9068941 20200609 RGD PMID:17164260|REF_RGD_ID:2293868 8708960 Atm ATM serine/threonine kinase gene DOID:14330 Parkinson's disease ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cingulate gyrus PMID:20502937|REF_RGD_ID:10053605 8708960 Atm ATM serine/threonine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm 8708960 Atm ATM serine/threonine kinase gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10817650|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16574953|PMID:16631465|PMID:16832357|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17393301|PMID:17517479|PMID:17623063|PMID:17640065|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26580448|PMID:26898890|PMID:26901136|PMID:27146902|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31415627|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395|PMID:9792409|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10425038|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:14754616|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:17000706|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17351744|PMID:17393301|PMID:17502119|PMID:17517479|PMID:17623063|PMID:17640065|PMID:17910737|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26580448|PMID:26689913|PMID:26898890|PMID:26901136|PMID:27146902|PMID:27224988|PMID:27365426|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31415627|PMID:31742824|PMID:32113160|PMID:32522261|PMID:33191115|PMID:33471991|PMID:34262154|PMID:34646395|PMID:35047863|PMID:35264596|PMID:8845835|PMID:9792409|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:7240710 20240214 OMIM 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36029002|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35980532|PMID:36029002|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36555667 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:1612 breast cancer susceptibility ISO RGD:1606040 D RGD:9068941 20240215 RGD PMID:11200774|REF_RGD_ID:1643350 8708960 Atm ATM serine/threonine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 8708960 Atm ATM serine/threonine kinase gene DOID:1781 thyroid cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866|PMID:26098869 8708960 Atm ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:9068941 20200609 RGD DNA:SNP: :60G>A(human) PMID:18381943|REF_RGD_ID:2317234 8708960 Atm ATM serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1606040 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs664677 (human) PMID:16520463|REF_RGD_ID:2317367 8708960 Atm ATM serine/threonine kinase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1606040 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1801516(human) PMID:19147782|REF_RGD_ID:2317363 8708960 Atm ATM serine/threonine kinase gene DOID:1824 status epilepticus ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:11852039|REF_RGD_ID:1599366 8708960 Atm ATM serine/threonine kinase gene DOID:1909 melanoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983787 8708960 Atm ATM serine/threonine kinase gene DOID:219 colon cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer 8708960 Atm ATM serine/threonine kinase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:15863839|REF_RGD_ID:1601249 8708960 Atm ATM serine/threonine kinase gene DOID:2394 ovarian cancer ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10330348|PMID:10817650|PMID:10873394|PMID:11756185|PMID:11996792|PMID:12091354|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12917204|PMID:12935922|PMID:14706517|PMID:15756685|PMID:17333338|PMID:18634022|PMID:19404735|PMID:19781682|PMID:20305132|PMID:21665257|PMID:21933854|PMID:21993670|PMID:22529920|PMID:22585167|PMID:23555315|PMID:23807571|PMID:24728327|PMID:25085752|PMID:25318351|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26094658|PMID:26155992|PMID:26270727|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26976419|PMID:27093186|PMID:27878467|PMID:27913932|PMID:28007021|PMID:28008555|PMID:28135048|PMID:28135145|PMID:28281318|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:29317520|PMID:29522266|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30374176|PMID:30549301|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31248605|PMID:31285527|PMID:31422574|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31867841|PMID:31871109|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32566746|PMID:32658311|PMID:32866190|PMID:32885271|PMID:32936981|PMID:33206719|PMID:33240400|PMID:33309985|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33552952|PMID:35171259|PMID:35245693|PMID:35264596|PMID:8659541|PMID:9443866|PMID:9463314|PMID:9872980 8708960 Atm ATM serine/threonine kinase gene DOID:2871 endometrial carcinoma ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10425038|PMID:11298136|PMID:12673797|PMID:12810666|PMID:12815592|PMID:1300551|PMID:133608|PMID:19781682|PMID:21445571|PMID:21787400|PMID:23322442|PMID:23555315|PMID:23807571|PMID:24728327|PMID:25186627|PMID:25525159|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26689913|PMID:26787654|PMID:26837699|PMID:27443514|PMID:28152038|PMID:28492532|PMID:28873162|PMID:29486991|PMID:29625052|PMID:29659569|PMID:30192042|PMID:30338439|PMID:30651582|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31589614|PMID:31611883|PMID:31741144|PMID:31920950|PMID:32427313|PMID:32461654|PMID:32832836|PMID:32853339|PMID:33280026|PMID:33436325|PMID:33462019|PMID:33558524|PMID:34204722|PMID:36521553|PMID:8845835|PMID:8968760 8708960 Atm ATM serine/threonine kinase gene DOID:299 adenocarcinoma ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:12810666|PMID:15390180|PMID:16266405|PMID:17576681|PMID:20153123|PMID:22585167|PMID:25614872|PMID:25741868|PMID:26506520|PMID:27159176|PMID:28492532|PMID:29678143|PMID:31012270|PMID:34377931|PMID:36029002|PMID:36988593|PMID:37445923|PMID:9443866|PMID:9536098|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19781682|PMID:23322442|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9054948 8708960 Atm ATM serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant glioma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11298136|PMID:12552559|PMID:21445571|PMID:21459046|PMID:21792198|PMID:25741868|PMID:26681312|PMID:28492532|PMID:29478780|PMID:30549301|PMID:33471991|PMID:8659541|PMID:8808599|PMID:9000145|PMID:9463314 8708960 Atm ATM serine/threonine kinase gene DOID:3459 breast carcinoma ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11606401|PMID:11805335|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16832357|PMID:16864838|PMID:17124347|PMID:17344846|PMID:17576681|PMID:18384426|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21354641|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22585167|PMID:23264026|PMID:23585524|PMID:23807571|PMID:25077176|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:33280026|PMID:8755918|PMID:9463314|PMID:9536098|PMID:9622061|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:3459 breast carcinoma ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11606401|PMID:11805335|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16832357|PMID:16864838|PMID:17124347|PMID:17344846|PMID:17576681|PMID:18384426|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21354641|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22585167|PMID:23264026|PMID:23585524|PMID:23807571|PMID:25077176|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26182300|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26837699|PMID:26896183|PMID:26976419|PMID:27159176|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29625052|PMID:29678143|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30772474|PMID:30819809|PMID:31012270|PMID:31050087|PMID:31159747|PMID:31589614|PMID:31741144|PMID:32338768|PMID:32558426|PMID:32658311|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32957588|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34337741|PMID:34377931|PMID:34445196|PMID:35078243|PMID:36029002|PMID:36988593|PMID:37445923|PMID:8755918|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9622061|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:3459 breast carcinoma disease_progression ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:decreased expression:lymph node PMID:10748873|REF_RGD_ID:1643351 8708960 Atm ATM serine/threonine kinase gene DOID:3571 liver cancer ameliorates ISO RGD:10199 D RGD:9068941 20210903 RGD PMID:19919837|REF_RGD_ID:150340702 8708960 Atm ATM serine/threonine kinase gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) PMID:17019709|REF_RGD_ID:150340713 8708960 Atm ATM serine/threonine kinase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNP:intron:(rs228589) (human) PMID:28642860|REF_RGD_ID:150383339 8708960 Atm ATM serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNPs,haplotypes:intron: (rs227060, rs170548) (human) PMID:17582598|REF_RGD_ID:150383340 8708960 Atm ATM serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1606040 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 8708960 Atm ATM serine/threonine kinase gene DOID:3944 Arenaviridae infectious disease ISO RGD:10199 D RGD:9068941 20210409 RGD PMID:21641396|REF_RGD_ID:126779561 8708960 Atm ATM serine/threonine kinase gene DOID:3948 adrenocortical carcinoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 8708960 Atm ATM serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:19404735|PMID:20305132|PMID:23555315|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32113160|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395|PMID:35264596 8708960 Atm ATM serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20231026 RGD associated with Radiation-Induced Neoplasms;DNA:SNPs,haplotypes:exon 39,intron 22,intron 48: p.D1853N, IVS22-77 T>C, IVS48 + 238 C>G (rs1801516, rs664677, rs609429) PMID:19286843|REF_RGD_ID:401850780 8708960 Atm ATM serine/threonine kinase gene DOID:4001 ovarian carcinoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:10330348|PMID:10817650|PMID:16461462|PMID:17124347|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532 8708960 Atm ATM serine/threonine kinase gene DOID:4450 renal cell carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10571946 8708960 Atm ATM serine/threonine kinase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10980530|PMID:18560558|PMID:19431188|PMID:19691550|PMID:19779456|PMID:25186627|PMID:25741868|PMID:26628246|PMID:28492532|PMID:29522266|PMID:33747920|PMID:8755918|PMID:9792409 8708960 Atm ATM serine/threonine kinase gene DOID:4606 bile duct cancer ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:17124347|PMID:20077034|PMID:25741868|PMID:26635394|PMID:28492532|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:4905 pancreatic carcinoma ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10330348|PMID:10817650|PMID:10980530|PMID:12497634|PMID:12673797|PMID:12810666|PMID:14586414|PMID:14970866|PMID:15101044|PMID:15390180|PMID:16266405|PMID:17576681|PMID:1849795|PMID:18497957|PMID:20153123|PMID:21833744|PMID:22585167|PMID:23454770|PMID:23807571|PMID:24556621|PMID:25614872|PMID:25741868|PMID:26483394|PMID:26506520|PMID:26822949|PMID:27159176|PMID:28492532|PMID:29678143|PMID:29758562|PMID:31012270|PMID:32295079|PMID:3338800|PMID:33919281|PMID:34337741|PMID:34377931|PMID:34680878|PMID:35078243|PMID:36029002|PMID:36988593|PMID:37445923|PMID:8808599|PMID:9443866|PMID:9536098|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:5082 liver cirrhosis ISO RGD:1606040 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36526012 8708960 Atm ATM serine/threonine kinase gene DOID:5223 infertility ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:28007901|REF_RGD_ID:12879399 8708960 Atm ATM serine/threonine kinase gene DOID:5223 infertility ISO RGD:1593265 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:27895165|REF_RGD_ID:12879393 8708960 Atm ATM serine/threonine kinase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1606040 D RGD:9068941 20210430 RGD protein:decreased expression:T cell (human) PMID:31781094|REF_RGD_ID:126790561 8708960 Atm ATM serine/threonine kinase gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:SNP:intron:(rs227060) (human) PMID:28642860|REF_RGD_ID:150383339 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31428572|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36167400|PMID:36200007|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34117267|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35098669|PMID:35245693|PMID:35264596|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28008555|PMID:28093192|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35312250|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:581456|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233 8708960 Atm ATM serine/threonine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:5750 endometrial serous adenocarcinoma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial serous adenocarcinoma 8708960 Atm ATM serine/threonine kinase gene DOID:5844 myocardial infarction ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:24358288|REF_RGD_ID:10053570 8708960 Atm ATM serine/threonine kinase gene DOID:5844 myocardial infarction ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 8708960 Atm ATM serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1606040 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20305132|PMID:25356970|PMID:25741868|PMID:25980754|PMID:26053404|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29778231|PMID:33471991 8708960 Atm ATM serine/threonine kinase gene DOID:6741 bilateral breast cancer ISO RGD:1606040 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Bilateral breast carcinoma PMID:19781682|PMID:25741868|PMID:26689913|PMID:26787654|PMID:28492532|PMID:31159747|PMID:31206626|PMID:32283892|PMID:33471991|PMID:35264596 8708960 Atm ATM serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19919837 8708960 Atm ATM serine/threonine kinase gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1606040 D RGD:9068941 20210423 RGD protein:increased expression:liver (human) PMID:12866955|REF_RGD_ID:126781750 8708960 Atm ATM serine/threonine kinase gene DOID:687 hepatoblastoma ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:11756177|PMID:16832357|PMID:17333338|PMID:19781682|PMID:20305132|PMID:21665257|PMID:24728327|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26787654|PMID:26837699|PMID:27913932|PMID:28492532|PMID:28779002|PMID:29522266|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30995915|PMID:31780696|PMID:32325837|PMID:33128190|PMID:33359728|PMID:33436325|PMID:33471991|PMID:34262154|PMID:34646395|PMID:35264596|PMID:35495172 8708960 Atm ATM serine/threonine kinase gene DOID:83 cataract ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799786 8708960 Atm ATM serine/threonine kinase gene DOID:8634 prostate carcinoma in situ ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:prostate gland PMID:16997395|REF_RGD_ID:2293869 8708960 Atm ATM serine/threonine kinase gene DOID:8997 polycythemia vera ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera 8708960 Atm ATM serine/threonine kinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21748659|REF_RGD_ID:10053608 8708960 Atm ATM serine/threonine kinase gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:20179206|REF_RGD_ID:126781749 8708960 Atm ATM serine/threonine kinase gene DOID:9000113 Pneumococcal Meningitis ameliorates ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:15529270|REF_RGD_ID:126781748 8708960 Atm ATM serine/threonine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 8708960 Atm ATM serine/threonine kinase gene DOID:9000371 influenza A exacerbates ISO RGD:10199 D RGD:9068941 20210409 RGD PMID:31509427|REF_RGD_ID:126779564 8708960 Atm ATM serine/threonine kinase gene DOID:9000784 Fibrosis ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 8708960 Atm ATM serine/threonine kinase gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:15863839|REF_RGD_ID:1601249 8708960 Atm ATM serine/threonine kinase gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177254 8708960 Atm ATM serine/threonine kinase gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 8708960 Atm ATM serine/threonine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17968022 8708960 Atm ATM serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17502119|PMID:25415046|PMID:26098866|PMID:29610475 8708960 Atm ATM serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606040 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14983937|REF_RGD_ID:2293870 8708960 Atm ATM serine/threonine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms 8708960 Atm ATM serine/threonine kinase gene DOID:9002834 Herpesviridae Infections ameliorates ISO RGD:10199 D RGD:9068941 20210416 RGD PMID:22993144|PMID:28701397|REF_RGD_ID:126781689|REF_RGD_ID:126781691 8708960 Atm ATM serine/threonine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:1606040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30482293|PMID:32658311 8708960 Atm ATM serine/threonine kinase gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:10330348|PMID:10864201|PMID:11606401|PMID:12362033|PMID:12552559|PMID:12815592|PMID:15039971|PMID:15843990|PMID:16832357|PMID:17124347|PMID:18384426|PMID:19691550|PMID:19781682|PMID:20301790|PMID:21445571|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22585167|PMID:22649200|PMID:23585524|PMID:23807571|PMID:24416720|PMID:25077176|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26023681|PMID:26182300|PMID:26467025|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26896183|PMID:26976419|PMID:27034805|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30303537|PMID:30306255|PMID:30549301|PMID:30772474|PMID:31589614|PMID:31882575|PMID:32338768|PMID:32566746|PMID:32853339|PMID:32885271|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34337741|PMID:35078243|PMID:8755918|PMID:9443866|PMID:9463314|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8708960 Atm ATM serine/threonine kinase gene DOID:9004484 Sepsis treatment ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:24184056|REF_RGD_ID:126781746 8708960 Atm ATM serine/threonine kinase gene DOID:9004590 Acute Liver Failure treatment ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:21224054|REF_RGD_ID:10053606 8708960 Atm ATM serine/threonine kinase gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1593265 D RGD:9068941 20200609 RGD PMID:24565947|REF_RGD_ID:10053604 8708960 Atm ATM serine/threonine kinase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:15928302|PMID:16199547|PMID:16941484|PMID:17124347|PMID:17910737|PMID:19431188|PMID:21665257|PMID:21792198|PMID:22071889|PMID:23454770|PMID:23632773|PMID:23807571|PMID:25122203|PMID:25614872|PMID:25741868|PMID:27913932|PMID:28492532|PMID:28779002|PMID:29600275|PMID:29909963|PMID:30322717|PMID:30338439|PMID:32866655|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34654685|PMID:34755017|PMID:36988593 8708960 Atm ATM serine/threonine kinase gene DOID:9005628 Ataxia-Telangiectasia Variant ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ataxia - telangiectasia variant PMID:10234507|PMID:10330348|PMID:11382771|PMID:11805335|PMID:11826028|PMID:11830610|PMID:12072552|PMID:12969974|PMID:14562025|PMID:14654357|PMID:15054841|PMID:15174027|PMID:15928302|PMID:16832357|PMID:16958054|PMID:17001622|PMID:17576681|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19781682|PMID:19823873|PMID:20301790|PMID:20305132|PMID:21778326|PMID:21787400|PMID:21792198|PMID:22345219|PMID:22529920|PMID:22585167|PMID:23143971|PMID:24088041|PMID:24733792|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25186627|PMID:25741868|PMID:25914063|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26896183|PMID:26898890|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:28008555|PMID:28126470|PMID:28492532|PMID:28779002|PMID:29719442|PMID:29915382|PMID:30504431|PMID:30549301|PMID:31447099|PMID:32255556|PMID:32338768|PMID:32427313|PMID:32748564|PMID:32754152|PMID:32853339|PMID:33436325|PMID:33471991|PMID:33509806|PMID:34117267|PMID:35534218|PMID:35710434|PMID:35716007|PMID:581456|PMID:8755819|PMID:8755918|PMID:8808599|PMID:9000145|PMID:9288106|PMID:9463314|PMID:9536098|PMID:9792410|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human) PMID:22485171|REF_RGD_ID:150340716 8708960 Atm ATM serine/threonine kinase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22768306|REF_RGD_ID:10053607 8708960 Atm ATM serine/threonine kinase gene DOID:9006644 Retroviridae Infections ameliorates ISO RGD:10199 D RGD:9068941 20210423 RGD PMID:15661267|REF_RGD_ID:126781747 8708960 Atm ATM serine/threonine kinase gene DOID:9006646 Metabolic Syndrome ISO RGD:10199 D RGD:9068941 20200609 RGD PMID:17084711|REF_RGD_ID:1601248 8708960 Atm ATM serine/threonine kinase gene DOID:9006815 Otorhinolaryngologic Neoplasms severity ISO RGD:1606040 D RGD:9068941 20210903 RGD mRNA:decreased expression:pharynx,larynx (human) PMID:21127011|REF_RGD_ID:150340703 8708960 Atm ATM serine/threonine kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10571946 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24451234|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28188106|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32810930|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32918381|PMID:32958592|PMID:32986223|PMID:33011440|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34299313|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21270786|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25974703|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28590052|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36167400|PMID:36200007|PMID:36551643|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32012241|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37149759|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34680501|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36000185|PMID:36029002|PMID:36035419|PMID:36091166 8708960 Atm ATM serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:1606040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Malignant brain neoplasm PMID:32885271 8708960 Atm ATM serine/threonine kinase gene DOID:9007692 Insulin Resistance ISO RGD:1593265 D RGD:9068941 20200609 RGD protein:decreased expression:muscle: PMID:18534819|REF_RGD_ID:8693659 8708960 Atm ATM serine/threonine kinase gene DOID:9007692 Insulin Resistance treatment ISO RGD:1606040 D RGD:9068941 20210416 RGD Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human) PMID:23171036|REF_RGD_ID:126781688 8708960 Atm ATM serine/threonine kinase gene DOID:9008114 Helicobacter Infections ISO RGD:1606040 D RGD:9068941 20210430 RGD associated with gastritis;mRNA:increased expression:mucosa of stomach (human) PMID:25069978|REF_RGD_ID:126790566 8708960 Atm ATM serine/threonine kinase gene DOID:9008114 Helicobacter Infections ISO RGD:1606040 D RGD:9068941 20210430 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) PMID:29128564|REF_RGD_ID:126790563 8708960 Atm ATM serine/threonine kinase gene DOID:9008603 Rhabdoviridae Infections ameliorates ISO RGD:10199 D RGD:9068941 20210430 RGD PMID:25692705|REF_RGD_ID:126790565 8708960 Atm ATM serine/threonine kinase gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:1606040 D RGD:9068941 20210903 RGD associated with lung cancer;DNA:SNPs:promoter:���111G>A,126713G>A (rs189037, s373759) (human) PMID:20171797|REF_RGD_ID:150340755 8708960 Atm ATM serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12072552|PMID:12195425|PMID:12552559|PMID:12969974|PMID:14562025|PMID:16652348|PMID:16832357|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32427313|PMID:32748564|PMID:32853339|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:34117267|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15643608|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16112413|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:23671275|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24643969|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25159481|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27276934|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423702|PMID:28451460|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28894253|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:29141312|PMID:29308099|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456 8708960 Atm ATM serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:33309985|PMID:33330270|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36000185|PMID:36029002|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8708960 Atm ATM serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:100011|PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26681312|PMID:27433846|PMID:28492532|PMID:29360161|PMID:30067863|PMID:30772474|PMID:31159747|PMID:32295079|PMID:33050356|PMID:33330270|PMID:34199532|PMID:35716007|PMID:9443866|PMID:9887333 8708960 Atm ATM serine/threonine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606040 D RGD:9068941 20210430 RGD PMID:16533773|REF_RGD_ID:126790575 8708960 Atm ATM serine/threonine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606040 D RGD:9068941 20210903 RGD DNA:mutations PMID:30814645|REF_RGD_ID:150340714 8708960 Atm ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1606040 D RGD:9068941 20210409 RGD protein:decreased expression:epithelium of nasopharynx (human) PMID:29230817|REF_RGD_ID:126779560 8708960 Atm ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1606040 D RGD:9068941 20210430 RGD associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human) PMID:19142888|REF_RGD_ID:126790562 8708960 Atm ATM serine/threonine kinase gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1606040 D RGD:9068941 20210827 RGD PMID:28820634|REF_RGD_ID:150340692 8708960 Atm ATM serine/threonine kinase gene DOID:9460 uterine corpus cancer ISO RGD:1606040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11805335|PMID:15279808|PMID:16864838|PMID:19535770|PMID:19605768|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22213089|PMID:25122203|PMID:2557216|PMID:25572163|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26681312|PMID:26976419|PMID:28126470|PMID:28492532|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:32854451|PMID:32875559|PMID:33471991|PMID:34445196 8708960 Atm ATM serine/threonine kinase gene DOID:9538 multiple myeloma ISO RGD:1606040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8708960 Atm ATM serine/threonine kinase gene DOID:9655 oral mucosa leukoplakia ISO RGD:1606040 D RGD:9068941 20210903 RGD protein:increased expression:mucosa of oral region (human) PMID:18288488|REF_RGD_ID:150340709 8708960 Atm ATM serine/threonine kinase gene DOID:9655 oral mucosa leukoplakia severity ISO RGD:1606040 D RGD:9068941 20210820 RGD protein:increased expression:mucosa of oral region (human) PMID:29928356|REF_RGD_ID:150340604 8708960 Atm ATM serine/threonine kinase gene DOID:9669 senile cataract susceptibility ISO RGD:1606040 D RGD:9068941 20210430 RGD DNA:SNP:3' UTR: (rs4585) (human) PMID:29156695|REF_RGD_ID:126790564 8709027 Smox spermine oxidase gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1314443 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8709027 Smox spermine oxidase gene DOID:3525 middle cerebral artery infarction ISO RGD:1314443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30576531 8709027 Smox spermine oxidase gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1314443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8709027 Smox spermine oxidase gene DOID:630 genetic disease ISO RGD:1314443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709027 Smox spermine oxidase gene DOID:9007096 Stroke ISO RGD:1314443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16269634 8709056 Pheta1 PH domain containing endocytic trafficking adaptor 1 gene DOID:630 genetic disease ISO RGD:1602835 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709056 Pheta1 PH domain containing endocytic trafficking adaptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1602835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8709063 Hdac11 histone deacetylase 11 gene DOID:0060417 3p deletion syndrome ISO RGD:1323302 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8709063 Hdac11 histone deacetylase 11 gene DOID:630 genetic disease ISO RGD:1323302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709084 S100a9 S100 calcium binding protein A9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8709084 S100a9 S100 calcium binding protein A9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8709084 S100a9 S100 calcium binding protein A9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8709084 S100a9 S100 calcium binding protein A9 gene DOID:10608 celiac disease ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8709084 S100a9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer ISO RGD:1352981 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 8709084 S100a9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer ISO RGD:620267 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 8709084 S100a9 S100 calcium binding protein A9 gene DOID:11054 urinary bladder cancer ISO RGD:733175 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17970044|REF_RGD_ID:2316906 8709084 S100a9 S100 calcium binding protein A9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8709084 S100a9 S100 calcium binding protein A9 gene DOID:1540 parathyroid carcinoma ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8709084 S100a9 S100 calcium binding protein A9 gene DOID:5812 MHC class II deficiency ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8709084 S100a9 S100 calcium binding protein A9 gene DOID:630 genetic disease ISO RGD:1352981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709084 S100a9 S100 calcium binding protein A9 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352981 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8709084 S100a9 S100 calcium binding protein A9 gene DOID:820 myocarditis ISO RGD:1352981 D RGD:9068941 20200609 RGD PMID:19151078|REF_RGD_ID:2316903 8709084 S100a9 S100 calcium binding protein A9 gene DOID:9000058 Keloid ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8709084 S100a9 S100 calcium binding protein A9 gene DOID:9000955 Acute Otitis Media IEP D RGD:11553828|PMID:26711468 20161013 RGD mRNA, protein:increased expression:mucosa of middle ear 8709084 S100a9 S100 calcium binding protein A9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8709084 S100a9 S100 calcium binding protein A9 gene DOID:9002457 Experimental Arthritis ISO RGD:620267 D RGD:9068941 20200609 RGD PMID:8343166|REF_RGD_ID:633930 8709084 S100a9 S100 calcium binding protein A9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8709084 S100a9 S100 calcium binding protein A9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8709129 Wdr89 WD repeat domain 89 gene DOID:630 genetic disease ISO RGD:1316567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:10908 hydrocephalus ISO RGD:1312315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus PMID:25741868 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:11054 urinary bladder cancer ISO RGD:1312315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:630 genetic disease ISO RGD:1312315 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9003728 Shashi-Pena Syndrome ISO RGD:1312315 D RGD:7240710 20190315 OMIM 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9003728 Shashi-Pena Syndrome ISO RGD:1312315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shashi-Pena syndrome PMID:25741868|PMID:27693232|PMID:28492532 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312315 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9008582 Developmental Disease ISO RGD:1312315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8709157 Asxl2 ASXL transcriptional regulator 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1312315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:732989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:732989 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:25741868 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0090064 familial cold autoinflammatory syndrome 3 ISO RGD:732989 D RGD:7240710 20180130 OMIM 8709179 Plcg2 phospholipase C gamma 2 gene DOID:0090064 familial cold autoinflammatory syndrome 3 ISO RGD:732989 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: FAMILIAL ATYPICAL COLD URTICARIA | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 PMID:16199547|PMID:17576681|PMID:22236196|PMID:24033266|PMID:24869598|PMID:25640679|PMID:25741868|PMID:27577878|PMID:28166811|PMID:28492532|PMID:29590070|PMID:29921932|PMID:30273710|PMID:30344948|PMID:30619256|PMID:31853824|PMID:32047491|PMID:32671674|PMID:33859323|PMID:33936634|PMID:34329649|PMID:35753512|PMID:9536098 8709179 Plcg2 phospholipase C gamma 2 gene DOID:10652 Alzheimer's disease ISO RGD:732989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28714976 8709179 Plcg2 phospholipase C gamma 2 gene DOID:630 genetic disease ISO RGD:732989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9000972 Fever ISO RGD:732989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic fever 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:732989 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia PMID:24869598|PMID:28492532 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9005237 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated ISO RGD:732989 D RGD:7240710 20180130 OMIM 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9005237 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated ISO RGD:732989 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated PMID:16199547|PMID:23000145|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30619256|PMID:34298581 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:732989 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30619256 8709179 Plcg2 phospholipase C gamma 2 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:732989 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29921932|PMID:30619256 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:0080600 COVID-19 ISO RGD:1322725 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:1070 primary open angle glaucoma ISO RGD:1322725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:630 genetic disease ISO RGD:1322725 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:684 hepatocellular carcinoma ISO RGD:1322725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:9004909 Immunodeficiency 80 ISO RGD:1322725 D RGD:7240710 20210526 OMIM 8709218 Mcm10 minichromosome maintenance 10 replication initiation factor gene DOID:9004909 Immunodeficiency 80 ISO RGD:1322725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 80 with or without congenital cardiomyopathy PMID:25741868|PMID:32865517|PMID:33712616 8709255 Trim65 tripartite motif containing 65 gene DOID:630 genetic disease ISO RGD:1352380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0060369 Parkinson's disease 6 ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1347618 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:1307 dementia ISO RGD:1359099 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:20545768|REF_RGD_ID:9685031 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:305 carcinoma ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:630 genetic disease ISO RGD:1347618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:1359099 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:20141154|REF_RGD_ID:9685028 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8709267 Capzb capping actin protein of muscle Z-line subunit beta gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1347618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:1059 intellectual disability ISO RGD:731623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:2746 glycogen storage disease V ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:3070 high grade glioma ISO RGD:731623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:630 genetic disease ISO RGD:731623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:731623 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8709291 Pola2 DNA polymerase alpha 2, accessory subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8709322 Kitlg KIT ligand gene DOID:0110590 autosomal dominant nonsyndromic deafness 69 ISO RGD:737118 D RGD:7240710 20180130 OMIM 8709322 Kitlg KIT ligand gene DOID:0110590 autosomal dominant nonsyndromic deafness 69 ISO RGD:737118 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric PMID:16199547|PMID:25741868|PMID:26522471|PMID:28492532|PMID:33229591 8709322 Kitlg KIT ligand gene DOID:0110980 Joubert syndrome 1 ISO RGD:737118 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 8709322 Kitlg KIT ligand gene DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation ISO RGD:737118 D RGD:7240710 20180130 OMIM 8709322 Kitlg KIT ligand gene DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation ISO RGD:737118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperpigmentation with or without hypopigmentation, familial progressive PMID:15040480|PMID:15551335|PMID:19375057|PMID:21368769|PMID:24033266|PMID:25741868|PMID:28492532 8709322 Kitlg KIT ligand gene DOID:1749 squamous cell carcinoma ISO RGD:12410173 D RGD:9068941 20230427 OMIA Squamous cell carcinoma of the digit PMID:1399782|PMID:16231717|PMID:17609360|PMID:23555311|PMID:24936030|PMID:26699508|PMID:2800263|PMID:36851392|PMID:36851451|PMID:6354679|PMID:6731733|PMID:7657570 8709322 Kitlg KIT ligand gene DOID:305 carcinoma ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8709322 Kitlg KIT ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 8709322 Kitlg KIT ligand gene DOID:3663 cutaneous mastocytosis ISO RGD:737119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20559008 8709322 Kitlg KIT ligand gene DOID:630 genetic disease ISO RGD:737118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709322 Kitlg KIT ligand gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8709322 Kitlg KIT ligand gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483681|PMID:19483682 8709322 Kitlg KIT ligand gene DOID:9000750 Waardenburg Syndrome Type 2F ISO RGD:737118 D RGD:7240710 20220720 OMIM 8709322 Kitlg KIT ligand gene DOID:9000750 Waardenburg Syndrome Type 2F ISO RGD:737118 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome, type 2F PMID:25741868|PMID:28504826|PMID:35543077 8709322 Kitlg KIT ligand gene DOID:9001472 Nasal Polyps ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15813808 8709322 Kitlg KIT ligand gene DOID:9001581 Constipation ISO RGD:3086 D RGD:9068941 20220505 RGD mRNA, protein:decreased expression:colon PMID:33792838|REF_RGD_ID:152025536 8709322 Kitlg KIT ligand gene DOID:9002566 Gastric Reperfusion Injury ISO RGD:3086 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach: PMID:20040059|REF_RGD_ID:12911222 8709322 Kitlg KIT ligand gene DOID:9004207 Testicular Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483681|PMID:19483682 8709322 Kitlg KIT ligand gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8709322 Kitlg KIT ligand gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1720698 8709322 Kitlg KIT ligand gene DOID:9007102 Myocardial Ischemia ISO RGD:737118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8709322 Kitlg KIT ligand gene DOID:9007207 Skin/Hair/Eye Pigmentation, Variation In, 7 ISO RGD:737118 D RGD:7240710 20221207 OMIM 8709322 Kitlg KIT ligand gene DOID:9007207 Skin/Hair/Eye Pigmentation, Variation In, 7 ISO RGD:737118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN PMID:17952075|PMID:18083106|PMID:24880339 8709322 Kitlg KIT ligand gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737119 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12594235 8709322 Kitlg KIT ligand gene DOID:9970 obesity ISO RGD:737119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 8709367 Alx3 ALX homeobox 3 gene DOID:0080074 neural tube defect ISO RGD:1352384 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:20534379 8709367 Alx3 ALX homeobox 3 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1352384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 8709367 Alx3 ALX homeobox 3 gene DOID:0081044 frontonasal dysplasia ISO RGD:1352384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Frontorhiny PMID:17963218|PMID:19409524|PMID:25741868 8709367 Alx3 ALX homeobox 3 gene DOID:0081045 frontonasal dysplasia 1 ISO RGD:1352384 D RGD:7240710 20180130 OMIM 8709367 Alx3 ALX homeobox 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1352384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8709367 Alx3 ALX homeobox 3 gene DOID:12849 autistic disorder ISO RGD:1352384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8709367 Alx3 ALX homeobox 3 gene DOID:630 genetic disease ISO RGD:1352384 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1314332 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:11832 visual epilepsy ISO RGD:1305980 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:12123686|REF_RGD_ID:9587847 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:12849 autistic disorder ISO RGD:1314333 D RGD:9068941 20200609 RGD PMID:18385101|REF_RGD_ID:9588655 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1314332 D RGD:9068941 20200609 RGD DNA:snp::c.1221+135T>A (rs140689) (human) PMID:18668384|REF_RGD_ID:9588657 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1314332 D RGD:9068941 20200609 RGD DNA:snps, deletion:promoter, cds:g.-634G>A, g.-501delT, p.P401A (human) PMID:16284366|REF_RGD_ID:9588651 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:224 transient cerebral ischemia ISO RGD:1305980 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:630 genetic disease ISO RGD:1314332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8709375 Mbd1 methyl-CpG binding domain protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1353300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:5812 MHC class II deficiency ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:630 genetic disease ISO RGD:1353300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709424 Crct1 cysteine rich C-terminal 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0050424 familial adenomatous polyposis ISO RGD:1348983 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:20951805|PMID:21157497|PMID:22980975|PMID:23636398|PMID:24033266|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25529843|PMID:25559809|PMID:25642631|PMID:25741868|PMID:25860647|PMID:26467025|PMID:26822575|PMID:28427513|PMID:28492532|PMID:29120461|PMID:29987844|PMID:30194485|PMID:32424176|PMID:32792570|PMID:35108036 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1348983 D RGD:9068941 20220721 RGD DNA:SNP:CDS:rs4077170 (human) PMID:28218421|REF_RGD_ID:153297765 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1324 lung cancer severity ISO RGD:1348983 D RGD:9068941 20220224 RGD DNA:missense mutation:CDS:p.A252V (human) PMID:17855454|REF_RGD_ID:11567235 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutations:CDS:p.P286R, p.V411L (human) PMID:29659608|REF_RGD_ID:151347857 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutations:multiple (human) PMID:29559562|REF_RGD_ID:151347650 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer disease_progression ISO RGD:1348983 D RGD:9068941 20220204 RGD protein:increased expression:endometrium (human) PMID:31866764|REF_RGD_ID:151347644 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1380 endometrial cancer onset ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:polymorphisms:multiple (human) PMID:25224212|REF_RGD_ID:151347645 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15766587|PMID:23263490|PMID:23447401|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25111073|PMID:25224212|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1348983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:15766587|PMID:16199547|PMID:23230001|PMID:24033266|PMID:24480973|PMID:24525744|PMID:25637381|PMID:25741868|PMID:25948378|PMID:26467025|PMID:27244218|PMID:28125075|PMID:28492532|PMID:28873162|PMID:29987844|PMID:30503519|PMID:32792570|PMID:34347074|PMID:35264596 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:1612 breast cancer ISO RGD:1348983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:21701589|PMID:23263490|PMID:24033266|PMID:25741868|PMID:26251183|PMID:26302956|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28857155|PMID:28873162|PMID:29458332|PMID:29641532|PMID:30267214|PMID:30503519|PMID:31265121|PMID:31970404|PMID:32522261|PMID:32792570|PMID:32885271|PMID:33558524|PMID:34326862|PMID:35264596 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer onset ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:28404093|REF_RGD_ID:151347649 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer susceptibility ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS, exon 9:p.P286R (human) PMID:27612425|REF_RGD_ID:151347640 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:218 ascending colon cancer susceptibility ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human, non-Asian) PMID:33125191|REF_RGD_ID:151347651 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:219 colon cancer ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:1348983 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2661 myoepithelioma ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:2871 endometrial carcinoma ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:27217144|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3068 glioblastoma ISO RGD:1348983 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:25228659|PMID:26619011|PMID:27573199|PMID:28492532|PMID:29352080 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:363 uterine cancer ISO RGD:1348983 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:23263490|PMID:23447401|PMID:24525744|PMID:24844595|PMID:25224212|PMID:25228659|PMID:26619011|PMID:27573199|PMID:28492532|PMID:29352080 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3717 gastric adenocarcinoma ISO RGD:1348983 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25228659|PMID:26619011|PMID:27573199|PMID:28492532|PMID:29352080 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3907 lung squamous cell carcinoma ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:29650000|REF_RGD_ID:151347653 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:32433714|REF_RGD_ID:151347639 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1348983 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:23263490|PMID:23447401|PMID:24525744|PMID:24844595|PMID:25224212|PMID:25228659|PMID:26619011|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:6171 uterine carcinosarcoma ISO RGD:1348983 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:23263490|PMID:23447401|PMID:24525744|PMID:24844595|PMID:25224212|PMID:25228659|PMID:26619011|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:630 genetic disease ISO RGD:1348983 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:29056344|PMID:34326862 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9000282 IMAGEI Syndrome ISO RGD:1348983 D RGD:7240710 20240221 OMIM 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9000282 IMAGEI Syndrome ISO RGD:1348983 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency PMID:14760276|PMID:16835919|PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:23447401|PMID:24033266|PMID:25741868|PMID:25948378|PMID:26467025|PMID:28492532|PMID:29056344|PMID:29754823|PMID:29987844|PMID:30503519|PMID:35599849|PMID:35860951|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1348983 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrioid adenocarcinoma PMID:23263490|PMID:23447401|PMID:24525744|PMID:24844595|PMID:25224212|PMID:25228659|PMID:26619011|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9004265 Endometrioid Carcinomas ameliorates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:29505428|REF_RGD_ID:151347648 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16699561|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32992294|PMID:33001133|PMID:33193653|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16699561|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32992294|PMID:33001133|PMID:33193653|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34347074|PMID:34549727|PMID:35108036|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987015|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:34026601|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35261896|PMID:35264596|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348983 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27720647|PMID:27742654|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28608266|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987015|PMID:29987844|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30765821|PMID:30827058|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33821390|PMID:34026601|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35261896|PMID:35264596|PMID:36315513|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007936 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature ISO RGD:1348983 D RGD:7240710 20240221 OMIM 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9007936 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature ISO RGD:1348983 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature PMID:16699561|PMID:17576681|PMID:20091185|PMID:21129811|PMID:23230001|PMID:23263490|PMID:24033266|PMID:24501277|PMID:25370038|PMID:25529843|PMID:25559809|PMID:25741868|PMID:25948378|PMID:26302956|PMID:26467025|PMID:27683556|PMID:28050010|PMID:28492532|PMID:29755653|PMID:29758562|PMID:29987844|PMID:30049826|PMID:30362666|PMID:30503519|PMID:30827058|PMID:32424176|PMID:32546565|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348983 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:23263490|PMID:23447401|PMID:24525744|PMID:24844595|PMID:25224212|PMID:25228659|PMID:26619011|PMID:27573199|PMID:28492532|PMID:29352080 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:24844595|PMID:26619011|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1348983 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:23263490|PMID:23447401|PMID:24525744|PMID:24844595|PMID:25224212|PMID:25228659|PMID:26619011|PMID:28492532 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:7240710 20240221 OMIM 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29641532|PMID:29755653|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31285513|PMID:31308508|PMID:31769227|PMID:31829442|PMID:32424176|PMID:32792570|PMID:32885271|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24410847|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31829442|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17067213|PMID:17576681|PMID:19966286|PMID:20084279|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25111073|PMID:25124163|PMID:25188385|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31673068|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25394778|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:35108036|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:32169874|PMID:32424176|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35264596|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27884168|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35264596|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27854218|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35264596|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer with chromosomal instability, somatic | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27742654|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987015|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:34026601|PMID:34326862|PMID:34347074|PMID:34549727|PMID:35108036|PMID:35261896|PMID:35264596|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1348983 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12424237|PMID:14760276|PMID:15285897|PMID:15766587|PMID:16199547|PMID:16699561|PMID:16835919|PMID:17576681|PMID:19966286|PMID:20091185|PMID:20496165|PMID:20951805|PMID:21129811|PMID:21157497|PMID:21701589|PMID:22493747|PMID:22960745|PMID:22980975|PMID:23230001|PMID:23263490|PMID:23447401|PMID:23528559|PMID:23585368|PMID:23636398|PMID:24033266|PMID:24480973|PMID:24501277|PMID:24525744|PMID:24651015|PMID:24788313|PMID:24844595|PMID:25032700|PMID:25058500|PMID:25079317|PMID:25124163|PMID:25224212|PMID:25228659|PMID:25370038|PMID:25505230|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25860647|PMID:25923920|PMID:25938944|PMID:25948378|PMID:25986922|PMID:26122175|PMID:26133394|PMID:26251183|PMID:26302956|PMID:26467025|PMID:26493165|PMID:26619011|PMID:26648449|PMID:26748215|PMID:26763250|PMID:26822575|PMID:26845104|PMID:27153395|PMID:27217144|PMID:27244218|PMID:27683556|PMID:27701467|PMID:27720647|PMID:27742654|PMID:28050010|PMID:28117753|PMID:28125075|PMID:28166811|PMID:28188185|PMID:28195393|PMID:28202063|PMID:28218421|PMID:28423643|PMID:28427513|PMID:28492532|PMID:28558987|PMID:28608266|PMID:28724667|PMID:28857155|PMID:28873162|PMID:29056344|PMID:29120461|PMID:29194591|PMID:29212164|PMID:29320758|PMID:29338689|PMID:29371908|PMID:29458332|PMID:29572003|PMID:29625052|PMID:29641532|PMID:29754823|PMID:29755653|PMID:29758562|PMID:29879026|PMID:29987015|PMID:29987844|PMID:30049826|PMID:30093976|PMID:30194485|PMID:30267214|PMID:30306255|PMID:30362666|PMID:30368636|PMID:30374176|PMID:30414346|PMID:30503519|PMID:30630526|PMID:30640733|PMID:30665374|PMID:30677446|PMID:30680046|PMID:30765821|PMID:30827058|PMID:30833958|PMID:30917185|PMID:31034466|PMID:31265121|PMID:31285513|PMID:31308508|PMID:31360874|PMID:31567591|PMID:31769227|PMID:31780696|PMID:31866764|PMID:31970404|PMID:32169874|PMID:32424176|PMID:32522261|PMID:32546565|PMID:32567205|PMID:32705701|PMID:32792570|PMID:32826389|PMID:32885271|PMID:32973888|PMID:32992294|PMID:33001133|PMID:33193653|PMID:33558524|PMID:33821390|PMID:34026601|PMID:3432686|PMID:34326862|PMID:34347074|PMID:34549727|PMID:34897210|PMID:35108036|PMID:35261896|PMID:35264596|PMID:35599849|PMID:35860951|PMID:36315513|PMID:9536098 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1348983 D RGD:9068941 20220204 RGD protein:decreased expression:colorectum (human) PMID:32567205|REF_RGD_ID:151347643 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer exacerbates ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:25124163|REF_RGD_ID:151347642 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer onset ISO RGD:1348983 D RGD:9068941 20220224 RGD DNA:mutations:multiple (human) PMID:27244218|REF_RGD_ID:151356953 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer severity ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS:multiple (human) PMID:32859741|REF_RGD_ID:151347638 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS, exon 9:p.P286R (human) PMID:27612425|REF_RGD_ID:151347640 8709435 Pole DNA polymerase epsilon, catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1348983 D RGD:9068941 20220204 RGD DNA:missense mutation:CDS:p.L424V (human) PMID:29120461|REF_RGD_ID:151347652 8709530 Tnp1 transition protein 1 gene DOID:630 genetic disease ISO RGD:733923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709530 Tnp1 transition protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8709558 Cd86 CD86 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:628714 D RGD:9068941 20200609 RGD PMID:10590132|REF_RGD_ID:6902938 8709558 Cd86 CD86 molecule gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1604658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8709558 Cd86 CD86 molecule gene DOID:10124 corneal disease ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:corneal epithelium, Langerhans cell (rat) PMID:19907296|REF_RGD_ID:4892211 8709558 Cd86 CD86 molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:hypermethylation (human) PMID:23154584|REF_RGD_ID:11354975 8709558 Cd86 CD86 molecule gene DOID:11123 Henoch-Schoenlein purpura treatment ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:venous blood, B cell (human) PMID:27030970|REF_RGD_ID:11354986 8709558 Cd86 CD86 molecule gene DOID:12053 cryptococcosis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:16790753|REF_RGD_ID:4892554 8709558 Cd86 CD86 molecule gene DOID:12449 aplastic anemia ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:blood, dendritic cell (human) PMID:21234821|REF_RGD_ID:11354968 8709558 Cd86 CD86 molecule gene DOID:12842 Guillain-Barre syndrome ISO RGD:734336 D RGD:9068941 20220825 MouseDO OMIM:139393 8709558 Cd86 CD86 molecule gene DOID:2123 tularemia ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:16272336|REF_RGD_ID:4892560 8709558 Cd86 CD86 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:exons: G>A, G>C (rs1129055, rs17281995) (human) PMID:26531698|REF_RGD_ID:11354964 8709558 Cd86 CD86 molecule gene DOID:2518 orchitis ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:testis, macrophage (rat) PMID:18381617|REF_RGD_ID:4892229 8709558 Cd86 CD86 molecule gene DOID:2773 contact dermatitis ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8709558 Cd86 CD86 molecule gene DOID:2799 bronchiolitis obliterans ISO RGD:628714 D RGD:9068941 20200609 RGD PMID:11266944|REF_RGD_ID:2307206 8709558 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:snp:exon:p.I179V rs2681417 (human) PMID:17513529|REF_RGD_ID:4892280 8709558 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:blood, B cell (human) PMID:9449507|REF_RGD_ID:4892555 8709558 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (rat) PMID:20668438|REF_RGD_ID:4892199 8709558 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:9551945|REF_RGD_ID:4892202 8709558 Cd86 CD86 molecule gene DOID:2841 asthma ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, alveolar macrophage (mouse) PMID:20941750|REF_RGD_ID:4892277 8709558 Cd86 CD86 molecule gene DOID:2841 asthma treatment ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:25344652|REF_RGD_ID:11354965 8709558 Cd86 CD86 molecule gene DOID:2917 cryoglobulinemia ISO RGD:1604658 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) PMID:23840845|REF_RGD_ID:11354974 8709558 Cd86 CD86 molecule gene DOID:2942 bronchiolitis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:myeloid dendritic cell (mouse) PMID:20046053|REF_RGD_ID:4892291 8709558 Cd86 CD86 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:decreased expression:sputum, macrophage (human) PMID:17713660|REF_RGD_ID:4892339 8709558 Cd86 CD86 molecule gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:lung, myeloid dendritic cell (human) PMID:19729666|REF_RGD_ID:4892292 8709558 Cd86 CD86 molecule gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:g.1057G>A rs1129055 (human) PMID:20732370|REF_RGD_ID:4891504 8709558 Cd86 CD86 molecule gene DOID:3525 middle cerebral artery infarction ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:brain subventricular zone, microglial cell (rat) PMID:19053043|REF_RGD_ID:2313025 8709558 Cd86 CD86 molecule gene DOID:3770 pulmonary fibrosis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:20395561|REF_RGD_ID:4892281 8709558 Cd86 CD86 molecule gene DOID:399 tuberculosis ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:18292558|REF_RGD_ID:4892329 8709558 Cd86 CD86 molecule gene DOID:409 liver disease ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8709558 Cd86 CD86 molecule gene DOID:418 systemic scleroderma ISO RGD:1604658 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-3479T>G (human) PMID:16790753|REF_RGD_ID:4892554 8709558 Cd86 CD86 molecule gene DOID:630 genetic disease ISO RGD:1604658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709558 Cd86 CD86 molecule gene DOID:6432 pulmonary hypertension ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:decreased expression:blood, myeloid dendritic cell (human) PMID:19693657|REF_RGD_ID:4892293 8709558 Cd86 CD86 molecule gene DOID:841 extrinsic allergic alveolitis ISO RGD:734336 D RGD:9068941 20200609 RGD associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse) PMID:19282343|REF_RGD_ID:4892294 8709558 Cd86 CD86 molecule gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:19379594|REF_RGD_ID:11354966 8709558 Cd86 CD86 molecule gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1604658 D RGD:9068941 20200609 RGD PMID:20581660|REF_RGD_ID:11520785 8709558 Cd86 CD86 molecule gene DOID:9000469 Viral Myocarditis treatment ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:10398149|REF_RGD_ID:13702899 8709558 Cd86 CD86 molecule gene DOID:9000930 Dental Pulp Exposure ISO RGD:628714 D RGD:9068941 20200609 RGD mRNA:increased expression:periodontal ligament (rat) PMID:20113783|REF_RGD_ID:4892210 8709558 Cd86 CD86 molecule gene DOID:9000930 Dental Pulp Exposure ISO RGD:628714 D RGD:9068941 20200609 RGD mRNA:increased expression:thalamus (rat) PMID:20171363|REF_RGD_ID:4892246 8709558 Cd86 CD86 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:628714 D RGD:9068941 20200609 RGD mRNA:decreased expression:mediastinal lymph node (rat) PMID:18360875|REF_RGD_ID:4892237 8709558 Cd86 CD86 molecule gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse) PMID:20949109|REF_RGD_ID:4892562 8709558 Cd86 CD86 molecule gene DOID:9001488 Human Influenza ISO RGD:734336 D RGD:9068941 20200609 RGD protein:increased expression:mediastinal lymph node, B cell (mouse) PMID:19933871|REF_RGD_ID:4892570 8709558 Cd86 CD86 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8709558 Cd86 CD86 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:25179679|REF_RGD_ID:11354969 8709558 Cd86 CD86 molecule gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:25344652|REF_RGD_ID:11354965 8709558 Cd86 CD86 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, blood vessel (rat) PMID:20451260|REF_RGD_ID:4892207 8709558 Cd86 CD86 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis resistance ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:10477557|REF_RGD_ID:4892227 8709558 Cd86 CD86 molecule gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, eosinophil (human) PMID:17308795|REF_RGD_ID:11354987 8709558 Cd86 CD86 molecule gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa, dendritic cell (human) PMID:17088138|REF_RGD_ID:4892343 8709558 Cd86 CD86 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:8993020|REF_RGD_ID:2313930 8709558 Cd86 CD86 molecule gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 8709558 Cd86 CD86 molecule gene DOID:9006844 Streptococcal Infections ISO RGD:734336 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse) PMID:16861672|REF_RGD_ID:4892553 8709558 Cd86 CD86 molecule gene DOID:9007730 Burns ISO RGD:628714 D RGD:9068941 20200609 RGD protein:increased expression:spleen, dendritic cell (rat) PMID:20233162|REF_RGD_ID:4892209 8709558 Cd86 CD86 molecule gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8709558 Cd86 CD86 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:19197726|REF_RGD_ID:4892295 8709558 Cd86 CD86 molecule gene DOID:9119 acute myeloid leukemia severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:mononuclear cell of bone marrow (human) PMID:16115907|REF_RGD_ID:11354960 8709558 Cd86 CD86 molecule gene DOID:9270 alkaptonuria ISO RGD:1604658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8709558 Cd86 CD86 molecule gene DOID:9538 multiple myeloma ISO RGD:1604658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16611307 8709558 Cd86 CD86 molecule gene DOID:9538 multiple myeloma severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, plasma cell (human) PMID:22705596|REF_RGD_ID:11354971 8709558 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:9068941 20200609 RGD human gene in mouse model PMID:17947667|REF_RGD_ID:4892258 8709558 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:decreased expression:dendritic cell PMID:16232222|REF_RGD_ID:2313911 8709558 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:dendritic cell PMID:12742378|REF_RGD_ID:2313920 8709558 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:734336 D RGD:9068941 20200609 RGD PMID:15356107|REF_RGD_ID:2313917 8709558 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:macrophage,dendritic cell,T cell PMID:10679081|REF_RGD_ID:2313927 8709558 Cd86 CD86 molecule gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:734336 D RGD:9068941 20200609 RGD protein:decreased expression:dendritic cells PMID:18316361|REF_RGD_ID:2313906 8709558 Cd86 CD86 molecule gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1604658 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) PMID:24283754|REF_RGD_ID:11354967 8709568 C4bpb complement component 4 binding protein beta gene DOID:0050589 inflammatory bowel disease ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8709568 C4bpb complement component 4 binding protein beta gene DOID:0080600 COVID-19 severity ISO RGD:736875 D RGD:9068941 20200813 RGD DNA:SNP: :rs45574833(human) PMID:32747830|REF_RGD_ID:38500238 8709568 C4bpb complement component 4 binding protein beta gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8709568 C4bpb complement component 4 binding protein beta gene DOID:12849 autistic disorder ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8709568 C4bpb complement component 4 binding protein beta gene DOID:1540 parathyroid carcinoma ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8709568 C4bpb complement component 4 binding protein beta gene DOID:630 genetic disease ISO RGD:736875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709568 C4bpb complement component 4 binding protein beta gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736875 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8709568 C4bpb complement component 4 binding protein beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:1346664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 PMID:25741868 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:3307 teratoma ISO RGD:1346664 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8709588 Rabep1 rabaptin, RAB GTPase binding effector protein 1 gene DOID:630 genetic disease ISO RGD:1346664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709626 Nup88 nucleoporin 88 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:733611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8709626 Nup88 nucleoporin 88 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:733611 D RGD:7240710 20190515 OMIM 8709626 Nup88 nucleoporin 88 gene DOID:0111379 fetal akinesia deformation sequence syndrome 4 ISO RGD:733611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 PMID:25741868|PMID:30543681 8709626 Nup88 nucleoporin 88 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8709626 Nup88 nucleoporin 88 gene DOID:630 genetic disease ISO RGD:733611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709647 Cdc16 cell division cycle 16 gene DOID:2222 factor X deficiency ISO RGD:1312892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8709647 Cdc16 cell division cycle 16 gene DOID:630 genetic disease ISO RGD:1312892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25439726|PMID:26922252|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532|PMID:32376792 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ISO RGD:68450 D RGD:7240710 20180130 OMIM 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S ISO RGD:68450 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15797190|PMID:16199547|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19157874|PMID:19158098|PMID:21353777|PMID:21360834|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25280635|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26257172|PMID:26298607|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26752306|PMID:26922252|PMID:27450922|PMID:27727376|PMID:28065684|PMID:28251916|PMID:28492532|PMID:29653221|PMID:29858556|PMID:30598237|PMID:31020813|PMID:31178897|PMID:32190976|PMID:32376792|PMID:32709422|PMID:34190362|PMID:34255403 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 ISO RGD:68450 D RGD:7240710 20180130 OMIM 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 ISO RGD:68450 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15269181|PMID:15503272|PMID:15599641|PMID:15797190|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:21360834|PMID:22157136|PMID:22791546|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:23929295|PMID:24022109|PMID:24033266|PMID:24088041|PMID:24388491|PMID:25280635|PMID:25326635|PMID:25326637|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26298607|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26709713|PMID:26922252|PMID:27450922|PMID:27727376|PMID:28065684|PMID:28202949|PMID:28251916|PMID:28397221|PMID:28403181|PMID:28492532|PMID:28765793|PMID:28902413|PMID:29653221|PMID:29761130|PMID:29858556|PMID:30373780|PMID:30409445|PMID:30598237|PMID:30755392|PMID:30863264|PMID:31019026|PMID:31020813|PMID:31178897|PMID:31211173|PMID:32154989|PMID:32376792|PMID:32488064|PMID:32573669|PMID:32709422|PMID:33258288|PMID:33369814|PMID:34169998|PMID:34190362|PMID:34255403|PMID:34539730|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant PMID:11528396|PMID:14681881|PMID:15108294|PMID:15797190|PMID:16199547|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20859832|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23929295|PMID:24022109|PMID:24033266|PMID:24342282|PMID:24388491|PMID:25280635|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26467025|PMID:26709713|PMID:27450922|PMID:28403181|PMID:28492532|PMID:29761130|PMID:30598237|PMID:31020813|PMID:31211173 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 ISO RGD:68450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1 PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:68450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29761130|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:33258288|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:68450 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528396|PMID:14506069|PMID:14681881|PMID:15108294|PMID:15599641|PMID:15797190|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:20031928|PMID:20859832|PMID:21353777|PMID:22157136|PMID:22791546|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24022109|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26922252|PMID:27727376|PMID:28251916|PMID:28492532|PMID:28765793|PMID:29761130|PMID:29858556|PMID:30598237|PMID:30863264|PMID:32376792|PMID:32573669|PMID:32709422|PMID:33258288|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:12377 spinal muscular atrophy ISO RGD:68450 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy PMID:14506069|PMID:14681881|PMID:15108294|PMID:15290238|PMID:16199547|PMID:16765827|PMID:16964485|PMID:17431882|PMID:18802676|PMID:19158098|PMID:21353777|PMID:22157136|PMID:23566544|PMID:24033266|PMID:24388491|PMID:25326635|PMID:25439726|PMID:25473036|PMID:25568292|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26922252|PMID:28065684|PMID:28397221|PMID:28492532|PMID:30409445|PMID:31178897|PMID:32376792 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:574 peripheral nervous system disease ISO RGD:68450 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11528396|PMID:14681881|PMID:16199547|PMID:16765827|PMID:22157136|PMID:23566544|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:27450922|PMID:28492532|PMID:30598237 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:68450 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14506069|PMID:14681881|PMID:15108294|PMID:16964485|PMID:17431882|PMID:17576681|PMID:18802676|PMID:19157874|PMID:19158098|PMID:21353777|PMID:22157136|PMID:22965130|PMID:23449687|PMID:23566544|PMID:23806086|PMID:24088041|PMID:24388491|PMID:25439726|PMID:2545169|PMID:25454169|PMID:25568292|PMID:25741868|PMID:26136520|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26709713|PMID:26752306|PMID:26922252|PMID:27450922|PMID:27727376|PMID:28251916|PMID:28403181|PMID:28492532|PMID:28902413|PMID:30373780|PMID:30409445|PMID:30598237|PMID:31178897|PMID:32376792|PMID:33258288|PMID:33369814|PMID:9536098 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:870 neuropathy ISO RGD:68450 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11528396|PMID:14681881|PMID:16199547|PMID:16765827|PMID:22157136|PMID:23566544|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26392352|PMID:27450922|PMID:28492532|PMID:30598237 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:68450 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68450 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:14506069|PMID:14681881|PMID:15108294|PMID:19157874|PMID:23449687|PMID:23806086|PMID:24088041|PMID:25439726|PMID:25568292|PMID:25741868|PMID:26257172|PMID:26709713|PMID:28492532|PMID:30598237 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9005219 Abnormal Reflexes ISO RGD:68450 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:14681881|PMID:25326637|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9005532 Muscle Weakness ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive muscle weakness PMID:14506069|PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9007114 Mobility Limitation ISO RGD:68450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:14506069|PMID:14681881|PMID:25439726|PMID:25568292|PMID:25741868|PMID:28492532 8709668 Ighmbp2 immunoglobulin mu DNA binding protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:68450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:0060041 autism spectrum disorder ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1322449 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:0081226 autosomal recessive intellectual developmental disorder 65 ISO RGD:1322449 D RGD:7240710 20190315 OMIM 8709690 Kdm5b lysine demethylase 5B gene DOID:0081226 autosomal recessive intellectual developmental disorder 65 ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 PMID:25741868|PMID:28492532|PMID:29276005|PMID:30217758|PMID:30409806 8709690 Kdm5b lysine demethylase 5B gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:1322449 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:10283 prostate cancer severity ISO RGD:1322449 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:18048344|REF_RGD_ID:9587744 8709690 Kdm5b lysine demethylase 5B gene DOID:1059 intellectual disability ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8709690 Kdm5b lysine demethylase 5B gene DOID:11054 urinary bladder cancer ISO RGD:1322449 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder (human) PMID:20226085|REF_RGD_ID:9587778 8709690 Kdm5b lysine demethylase 5B gene DOID:1540 parathyroid carcinoma ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:1612 breast cancer treatment ISO RGD:1322449 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21369698|REF_RGD_ID:9587774 8709690 Kdm5b lysine demethylase 5B gene DOID:3070 high grade glioma ISO RGD:1322449 D RGD:9068941 20200609 RGD PMID:25450384|REF_RGD_ID:13702126 8709690 Kdm5b lysine demethylase 5B gene DOID:3070 high grade glioma disease_progression ISO RGD:1322449 D RGD:9068941 20200609 RGD PMID:25450384|REF_RGD_ID:13702126 8709690 Kdm5b lysine demethylase 5B gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1322449 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa, cytoplasm (human) PMID:22534467|REF_RGD_ID:9587776 8709690 Kdm5b lysine demethylase 5B gene DOID:5844 myocardial infarction ameliorates ISO RGD:1557118 D RGD:9068941 20230624 RGD PMID:36481938|REF_RGD_ID:329901769 8709690 Kdm5b lysine demethylase 5B gene DOID:6039 uveal melanoma severity ISO RGD:1322449 D RGD:9068941 20200609 RGD protein:increased expression:uvea (human) PMID:22669717|REF_RGD_ID:9587775 8709690 Kdm5b lysine demethylase 5B gene DOID:630 genetic disease ISO RGD:1322449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:6432 pulmonary hypertension ISO RGD:1557118 D RGD:9068941 20230713 RGD associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse) PMID:30172777|REF_RGD_ID:329955443 8709690 Kdm5b lysine demethylase 5B gene DOID:9002928 Colonic Neoplasms ISO RGD:1322449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 8709690 Kdm5b lysine demethylase 5B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322449 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8709690 Kdm5b lysine demethylase 5B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1322449 D RGD:9068941 20200609 RGD PMID:23354547|REF_RGD_ID:9587777 8709690 Kdm5b lysine demethylase 5B gene DOID:9008582 Developmental Disease ISO RGD:1322449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8709690 Kdm5b lysine demethylase 5B gene DOID:9008939 Breast Neoplasms severity ISO RGD:1322449 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:10336460|REF_RGD_ID:9587743 8709690 Kdm5b lysine demethylase 5B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8709724 Gpr12 G protein-coupled receptor 12 gene DOID:630 genetic disease ISO RGD:68465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709724 Gpr12 G protein-coupled receptor 12 gene DOID:9970 obesity ISO RGD:68466 D RGD:9068941 20220825 MouseDO OMIM:601665 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:15638228|REF_RGD_ID:1625756 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD proteion:increased expression:serum: PMID:12598355|REF_RGD_ID:11354982 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:20004360|REF_RGD_ID:4145463 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0060180 colitis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, lung (rat) PMID:20950211|REF_RGD_ID:4145335 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0081120 Graves ophthalmopathy ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.1405A>G (human) PMID:14557478|REF_RGD_ID:8158124 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0081267 graft-versus-host disease ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:liver,bile duct: PMID:10051478|REF_RGD_ID:11520783 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0081292 traumatic brain injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:0111151 Prinzmetal angina ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9415270|REF_RGD_ID:8547713 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10128 venous insufficiency susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Venous Thrombosis; PMID:25495610|REF_RGD_ID:11054206 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (mouse) PMID:19056932|REF_RGD_ID:4145519 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10247 pleurisy ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Tuberculosis; protein:increased expression:pleural fluid, natural killer cell (human) PMID:19714575|REF_RGD_ID:4145510 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:19536890|REF_RGD_ID:4145511 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10591 pre-eclampsia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:21830843|REF_RGD_ID:8547718 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10652 Alzheimer's disease ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K469E (human) PMID:12498973|REF_RGD_ID:1358664 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10754 otitis media ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20926702|REF_RGD_ID:8547580 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12149661|PMID:12425201 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:18619052|REF_RGD_ID:2312765 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10952 nephritis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:8773354|REF_RGD_ID:8547716 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:8562031|REF_RGD_ID:8547586 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11054 urinary bladder cancer ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11204 allergic conjunctivitis ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:8766745|REF_RGD_ID:8547686 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11263 chlamydia ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:19728926|REF_RGD_ID:4145507 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:19858233|REF_RGD_ID:4145485 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11446 sciatic neuropathy ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:20546684|REF_RGD_ID:8547739 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18796303|REF_RGD_ID:2313473 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11714 gestational diabetes ISO RGD:69659 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:19343356|REF_RGD_ID:2313469 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11714 gestational diabetes ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:decidua, endothelial cell PMID:17990298|REF_RGD_ID:2313476 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle (rat) PMID:20601373|REF_RGD_ID:4145536 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1205 allergic disease ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:7524984|REF_RGD_ID:8158114 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1205 allergic disease ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Giardiasis;protein:increased expression:serum PMID:15587302|REF_RGD_ID:8547689 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease; PMID:10051478|REF_RGD_ID:11520783 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12351 alcoholic hepatitis severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:hepatocyte PMID:1347281|REF_RGD_ID:14402038 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:12357047|REF_RGD_ID:8158121 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease no_association ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP: :p.K469E (rs5498) (human) PMID:17873320|REF_RGD_ID:8547702 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12361 Graves' disease onset ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.721G>A (human) PMID:14557478|REF_RGD_ID:8158124 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12365 malaria ISO RGD:69659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10417733|PMID:10699175|PMID:23609612|PMID:25741868|PMID:9259284|PMID:9861406 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12365 malaria susceptibility ISO RGD:69659 D RGD:7240710 20190502 OMIM 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12662 paracoccidioidomycosis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:17003484|REF_RGD_ID:8547589 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20888423|REF_RGD_ID:4145440 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat) PMID:19837405|REF_RGD_ID:4145493 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17425601 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:nasopharynx PMID:20209309|REF_RGD_ID:4140425 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1287 cardiovascular system disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:25575156 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15037117|REF_RGD_ID:8547696 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:salivary gland PMID:11359451|REF_RGD_ID:8158122 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12894 Sjogren's syndrome treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:21589878|REF_RGD_ID:8547705 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:12986 leukostasis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485912 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13025 retinopathy of prematurity ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:20368504|REF_RGD_ID:4145427 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13141 uveitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:altered expression:serum, vitreous humor PMID:9640197|REF_RGD_ID:8547585 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13141 uveitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7641842|REF_RGD_ID:8158119 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:7743671|REF_RGD_ID:8547590 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830|PMID:8712863 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R241G (human) PMID:11409120|REF_RGD_ID:8547575 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease no_association ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R241G (human) PMID:10792421|REF_RGD_ID:8158123 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13241 Behcet's disease susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K469E (human) PMID:12808331|REF_RGD_ID:8158115 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13252 mesenteric vascular occlusion treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7858885|REF_RGD_ID:11522711 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13580 cholestasis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:13608 biliary atresia susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G241R (human) PMID:18401716|REF_RGD_ID:14402043 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1555 urticaria ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1586 rheumatic fever ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14567831|REF_RGD_ID:13702910 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1612 breast cancer ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1793 pancreatic cancer ISO RGD:69659 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:11815996|REF_RGD_ID:2325165 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1909 melanoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:8599446|REF_RGD_ID:8547584 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:22379785|REF_RGD_ID:8547729 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2316 brain ischemia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460|PMID:19417757 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2349 arteriosclerosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2377 multiple sclerosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2394 ovarian cancer ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2527 nephrosis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12845231 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2723 dermatitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:9366707|REF_RGD_ID:8547708 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2773 contact dermatitis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:20182448|REF_RGD_ID:5685684 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:lung, alveolar macrophage (human) PMID:19218648|REF_RGD_ID:4145518 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (mouse) PMID:20400685|REF_RGD_ID:4145444 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum (rat) PMID:20953388|REF_RGD_ID:4145331 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17014439|PMID:25003170 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:2841 asthma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:lung (human) PMID:20205697|REF_RGD_ID:4145509 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:22659586|REF_RGD_ID:7175102 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10756 D RGD:9068941 20200609 RGD protein:decreased expression:airway epithelium (mouse) PMID:18794286|REF_RGD_ID:4145522 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29329563 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69659 D RGD:9068941 20200609 RGD mRNA:increased expression:airway epithelial cell (human) PMID:20395558|REF_RGD_ID:4145446 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3454 brain infarction ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:18692933|REF_RGD_ID:2313474 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3526 cerebral infarction ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:20083630|REF_RGD_ID:8547724 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3770 pulmonary fibrosis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19254480|REF_RGD_ID:4145516 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3904 bronchus carcinoma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:lung (human) PMID:18764914|REF_RGD_ID:4145523 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD progression-free survival; protein:increased secretion:serum (human) PMID:19949019|REF_RGD_ID:4145465 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:1371389|PMID:18759276|REF_RGD_ID:8158120|REF_RGD_ID:8547576 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:418 systemic scleroderma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:8099861|REF_RGD_ID:8547587 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:4195 hyperglycemia ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cerebral cortex, pyramidal layer (rat) PMID:20495289|REF_RGD_ID:4145407 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:4676 uremia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347482 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:4724 brain edema ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Reperfusion Injury; protein:increased expression:brain (rat) PMID:20570121|REF_RGD_ID:4145390 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:4989 pancreatitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:4989 pancreatitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:23125085|REF_RGD_ID:8547728 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:5082 liver cirrhosis ISO RGD:2857 D RGD:9068941 20240125 RGD associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:missense mutations, haplotype:cds:p.G241R, p.K469E (human) PMID:18233990|REF_RGD_ID:14402042 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:5199 ureteral obstruction ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:renal endothelium, epithelium, interstitium PMID:10930117|REF_RGD_ID:11522713 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:552 pneumonia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:22882462|REF_RGD_ID:8547727 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:5679 retinal disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:574 peripheral nervous system disease ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:576 proteinuria ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:kidney PMID:22681549|REF_RGD_ID:8547734 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10070497 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:23139358|REF_RGD_ID:8547733 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:69659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:6432 pulmonary hypertension ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Heart Defects, Congenital;protein:increased secretion:serum (human) PMID:21034646|REF_RGD_ID:4145436 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26109813|REF_RGD_ID:11056752 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:783 end stage renal disease ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:20820841|REF_RGD_ID:4145364 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:820 myocarditis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:22268115|REF_RGD_ID:13702908 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:820 myocarditis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9556870|REF_RGD_ID:13702915 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8472 localized scleroderma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7916356|REF_RGD_ID:8158116 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8481 rheumatic myocarditis severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22987107|REF_RGD_ID:13702907 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8506 bullous pemphigoid ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:1377725|REF_RGD_ID:8547591 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8549 chronic ulcer of skin ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:blood PMID:8099861|REF_RGD_ID:8547587 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7621881|PMID:8656679 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:substantia nigra (rat) PMID:20584104|REF_RGD_ID:4145388 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15553846 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:874 bacterial pneumonia ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:19846873|REF_RGD_ID:4145490 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8778 Crohn's disease ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:15638228|REF_RGD_ID:1625756 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8893 psoriasis severity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8094011|REF_RGD_ID:8547688 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8893 psoriasis treatment ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:16181457|PMID:2015706|REF_RGD_ID:8158118|REF_RGD_ID:8547579 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8923 skin melanoma disease_progression ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R241G (human) PMID:16313300|REF_RGD_ID:8547698 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10485912 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:18834676|REF_RGD_ID:2313472 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human) PMID:18942221|REF_RGD_ID:2313471 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:25066112|REF_RGD_ID:11354984 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:8627308|REF_RGD_ID:11522712 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:21590495|REF_RGD_ID:8547712 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2857 D RGD:9068941 20220623 RGD PMID:10092309|PMID:29572553|REF_RGD_ID:11522714|REF_RGD_ID:152995414 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2857 D RGD:9068941 20240125 RGD mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000310 Lung Injury treatment ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Bacteremia; PMID:24891762|REF_RGD_ID:11354979 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:20731855|REF_RGD_ID:4145368 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000469 Viral Myocarditis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:11156888|REF_RGD_ID:13702912 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:11092674|REF_RGD_ID:13702913 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000656 Penetrating Wounds ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:granulation tissue (rat) PMID:20638379|REF_RGD_ID:4145377 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000722 Animal Hepatitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:21695461|REF_RGD_ID:14402037 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17014439 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000774 Brain Death ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:20810760|REF_RGD_ID:4145365 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000784 Fibrosis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:22844569|REF_RGD_ID:8547732 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Melanoma, Cutaneous Malignant PMID:10465581|REF_RGD_ID:8547593 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9000998 Brain Injuries ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:16230799|REF_RGD_ID:11522716 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:retina, choroid, sclera (rat) PMID:20497436|REF_RGD_ID:4145405 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001472 Nasal Polyps ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11593541|REF_RGD_ID:8547687 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001600 Wounds and Injuries ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:19828841|REF_RGD_ID:4145497 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Hypertension PMID:15007035|REF_RGD_ID:8547707 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10235552|REF_RGD_ID:8547704 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Intestinal Reperfusion Injury;protein:increased expression:liver PMID:8780571|REF_RGD_ID:14402044 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7884306|REF_RGD_ID:11520784 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney (mouse) PMID:20447389|REF_RGD_ID:4145414 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19246972|REF_RGD_ID:2313470 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.K469E (rs5498) (human) PMID:18505543|REF_RGD_ID:2313475 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18299691|REF_RGD_ID:2312766 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:7658704|REF_RGD_ID:11354983 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16606632 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:11701617|REF_RGD_ID:13702911 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:8093459|REF_RGD_ID:8547692 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, intestine (mouse) PMID:19819333|REF_RGD_ID:4145501 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased secretion:serum (rat) PMID:20646933|REF_RGD_ID:4145375 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:19213042|REF_RGD_ID:8547577 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16497620|PMID:7902311 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung, endothelium (mouse) PMID:19968652|REF_RGD_ID:4145464 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:nasopharynx (human) PMID:19047814|REF_RGD_ID:4145520 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9003709 Mercury Poisoning ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased secretion:serum (rat) PMID:20508868|REF_RGD_ID:4145621 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11557319|PMID:23743330 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9004484 Sepsis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:20451670|REF_RGD_ID:4145409 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9004610 Acute Lung Injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17973899|PMID:27525872 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:20569121|REF_RGD_ID:8547719 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9004898 Jaundice ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19034056|REF_RGD_ID:4145521 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005036 Bacteremia ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:lung,thymus,spleen: PMID:24891762|REF_RGD_ID:11354979 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:10756 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome PMID:15037117|REF_RGD_ID:8547696 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:2857 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) PMID:20980457|REF_RGD_ID:4145328 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842|PMID:23371441 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation treatment ISO RGD:10756 D RGD:9068941 20200609 RGD associated with myocardial infarction PMID:21658725|REF_RGD_ID:13702909 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005372 Inflammation treatment ISO RGD:2857 D RGD:9068941 20200626 RGD PMID:20600813|REF_RGD_ID:4145532 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:9118520|REF_RGD_ID:11520787 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10756 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18413153|REF_RGD_ID:2306987 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14871415|PMID:20388520|PMID:24513509 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:20136425|REF_RGD_ID:8547703 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:8100190|REF_RGD_ID:8158117 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9005930 Endotoxemia ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19776691|REF_RGD_ID:4145502 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery (rat) PMID:20368503|REF_RGD_ID:4145429 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:7909311|REF_RGD_ID:8547706 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394054|REF_RGD_ID:2313467 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10666412|PMID:22617707|REF_RGD_ID:11520779|REF_RGD_ID:8547722 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:22503847|REF_RGD_ID:7240537 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:9916118|REF_RGD_ID:8547701 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007096 Stroke ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007096 Stroke treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10066862|REF_RGD_ID:11522710 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007156 Enteritis ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA:increased expression:intestinal mucosa (rat) PMID:20885979|REF_RGD_ID:4145336 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007355 Hashimoto Disease ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7626551|REF_RGD_ID:8547592 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24069166 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007480 Hyperoxia ISO RGD:10756 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20237791|REF_RGD_ID:4145449 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:10201790|PMID:23706497|REF_RGD_ID:10402063|REF_RGD_ID:11520782 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (rat) PMID:19507274|REF_RGD_ID:2308951 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased secretion:plasma (human) PMID:11782876|REF_RGD_ID:1625753 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394054|REF_RGD_ID:2313467 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD PMID:12095141|REF_RGD_ID:11522715 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2857 D RGD:9068941 20230824 RGD PMID:22079846|REF_RGD_ID:401794136 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:heart (rat) PMID:20851484|REF_RGD_ID:4145348 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087064 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:nasopharynx, secretion (human) PMID:20128420|REF_RGD_ID:4145459 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9008691 Liver Injury treatment ISO RGD:2857 D RGD:9068941 20200609 RGD associated with acute pancreatitis PMID:26586701|REF_RGD_ID:14402036 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12759764|PMID:17245593 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9009184 Eosinophilic Myocarditis treatment ISO RGD:10756 D RGD:9068941 20200609 RGD PMID:9822282|REF_RGD_ID:13702914 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9009185 Lymphocytic Myocarditis ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:9205546|REF_RGD_ID:13703027 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:descending aorta, endothelial cells (rat) PMID:20871618|REF_RGD_ID:4144131 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9351 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394054|REF_RGD_ID:2313467 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2857 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta (rat) PMID:20388520|REF_RGD_ID:4145422 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24513509 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18299691|REF_RGD_ID:2312766 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9383 iridocyclitis ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R241G (human) PMID:20445114|REF_RGD_ID:8547694 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9538 multiple myeloma ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7686390|REF_RGD_ID:11520780 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9538 multiple myeloma treatment ISO RGD:69659 D RGD:9068941 20200609 RGD PMID:7834632|REF_RGD_ID:11354981 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9563 bronchiectasis ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17931847 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:69659 D RGD:9068941 20200609 RGD associated with Retinal Detachment;protein:increased expression:vitreous humor PMID:10413701|REF_RGD_ID:8547581 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19373518|REF_RGD_ID:2313468 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69659 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16978373|REF_RGD_ID:1625758 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:2857 D RGD:9068941 20200609 RGD protein:increased expression:submandibular gland (rat) PMID:20973827|REF_RGD_ID:4145329 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:69659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11782876 8709730 Icam1 intercellular adhesion molecule 1 gene DOID:9970 obesity ISO RGD:69659 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:20004360|REF_RGD_ID:4145463 8709744 Nme5 NME/NM23 family member 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8709744 Nme5 NME/NM23 family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8709744 Nme5 NME/NM23 family member 5 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1343010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8709744 Nme5 NME/NM23 family member 5 gene DOID:10908 hydrocephalus ISO RGD:1623132 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8709744 Nme5 NME/NM23 family member 5 gene DOID:630 genetic disease ISO RGD:1343010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709744 Nme5 NME/NM23 family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8709744 Nme5 NME/NM23 family member 5 gene DOID:9005202 Primary Ciliary Dyskinesia 48 ISO RGD:1343010 D RGD:7240710 20220921 OMIM 8709744 Nme5 NME/NM23 family member 5 gene DOID:9005202 Primary Ciliary Dyskinesia 48 ISO RGD:1343010 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus PMID:25741868|PMID:32185794|PMID:32950024 8709744 Nme5 NME/NM23 family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8709744 Nme5 NME/NM23 family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8709757 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1348298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:16199547|PMID:17576681|PMID:24360803|PMID:24360807|PMID:24360808|PMID:25741868|PMID:26092869|PMID:28492532|PMID:9536098 8709757 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:1059 intellectual disability ISO RGD:1348298 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:34113008 8709757 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:1826 epilepsy ISO RGD:1348298 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:34113008 8709757 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:2234 focal epilepsy ISO RGD:1348298 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 8709757 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1348298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8709757 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348298 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34113008 8709757 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:34113008 8709757 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008567 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1348298 D RGD:7240710 20221207 OMIM 8709757 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008567 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1348298 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: ARFGEF1-related condition | ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures PMID:25741868|PMID:34113008 8709757 Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 gene DOID:9008582 Developmental Disease ISO RGD:1348298 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:2843 long QT syndrome ISO RGD:1344113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:630 genetic disease ISO RGD:1344113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8709808 Usp19 ubiquitin specific peptidase 19 gene DOID:9001793 Generalized Epilepsy ISO RGD:1344113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 8709846 Nudt16 nudix hydrolase 16 gene DOID:0080600 COVID-19 ISO RGD:1347227 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8709846 Nudt16 nudix hydrolase 16 gene DOID:630 genetic disease ISO RGD:1347227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709846 Nudt16 nudix hydrolase 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8709846 Nudt16 nudix hydrolase 16 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8709846 Nudt16 nudix hydrolase 16 gene DOID:9270 alkaptonuria ISO RGD:1347227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8709853 LOC102009550 olfactory receptor 5AU1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1343321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8709853 LOC102009550 olfactory receptor 5AU1 gene DOID:630 genetic disease ISO RGD:1343321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709853 LOC102009550 olfactory receptor 5AU1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343321 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1319246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1319246 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1319246 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:10126 keratoconus ISO RGD:1319246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1319246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:630 genetic disease ISO RGD:1319246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709854 Ptk6 protein tyrosine kinase 6 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1319246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8709873 Borcs7 BLOC-1 related complex subunit 7 gene DOID:2367 neuroaxonal dystrophy ISO RGD:1623226 D RGD:9068941 20220825 MouseDO 8709873 Borcs7 BLOC-1 related complex subunit 7 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1623226 D RGD:9068941 20220825 MouseDO 8709873 Borcs7 BLOC-1 related complex subunit 7 gene DOID:5419 schizophrenia ISO RGD:1323417 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27158905 8709873 Borcs7 BLOC-1 related complex subunit 7 gene DOID:630 genetic disease ISO RGD:1323417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:543 dystonia ISO RGD:1605677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:630 genetic disease ISO RGD:1605677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709893 Fxyd5 FXYD domain containing ion transport regulator 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:0050746 mantle cell lymphoma ISO RGD:1606954 D RGD:9068941 20200609 RGD PMID:19641524|REF_RGD_ID:9685139 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:0110569 autosomal dominant nonsyndromic deafness 44 ISO RGD:1606954 D RGD:7240710 20180130 OMIM 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:0110569 autosomal dominant nonsyndromic deafness 44 ISO RGD:1606954 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 44 PMID:12483295|PMID:17503326|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:30311386 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:5419 schizophrenia ISO RGD:1606954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:630 genetic disease ISO RGD:1606954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 8709907 Ccdc50 coiled-coil domain containing 50 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606954 D RGD:9068941 20200609 RGD PMID:19641524|REF_RGD_ID:9685139 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:69475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:630 genetic disease ISO RGD:69475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8709936 Ube2d2 ubiquitin conjugating enzyme E2 D2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8709960 Smim6 small integral membrane protein 6 gene DOID:630 genetic disease ISO RGD:5134215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8709971 Itm2b integral membrane protein 2B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8709971 Itm2b integral membrane protein 2B gene DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ISO RGD:1353059 D RGD:7240710 20180130 OMIM 8709971 Itm2b integral membrane protein 2B gene DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Presenile dementia with spastic ataxia PMID:10391242|PMID:21610757|PMID:25741868|PMID:28492532|PMID:31719132 8709971 Itm2b integral membrane protein 2B gene DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 ISO RGD:1353059 D RGD:7240710 20180130 OMIM 8709971 Itm2b integral membrane protein 2B gene DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica PMID:10781099|PMID:25741868|PMID:28492532|PMID:31719132|PMID:5457846 8709971 Itm2b integral membrane protein 2B gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1353059 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 8709971 Itm2b integral membrane protein 2B gene DOID:1059 intellectual disability ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8709971 Itm2b integral membrane protein 2B gene DOID:10763 hypertension ISO RGD:1353059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8709971 Itm2b integral membrane protein 2B gene DOID:630 genetic disease ISO RGD:1353059 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8709971 Itm2b integral membrane protein 2B gene DOID:768 retinoblastoma ISO RGD:1353059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:15877282|PMID:17096365|PMID:17301081|PMID:22180099|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 8709971 Itm2b integral membrane protein 2B gene DOID:768 retinoblastoma ISO RGD:1353059 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:25741868|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 8709971 Itm2b integral membrane protein 2B gene DOID:8725 vascular dementia ISO RGD:1353059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 8709971 Itm2b integral membrane protein 2B gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:1353059 D RGD:7240710 20180130 OMIM 8709971 Itm2b integral membrane protein 2B gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:1353059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities PMID:24026677|PMID:25741868|PMID:28492532|PMID:31719132 8709971 Itm2b integral membrane protein 2B gene DOID:9246 cerebral amyloid angiopathy ISO RGD:1557698 D RGD:9068941 20220825 MouseDO 8709998 Prkrip1 PRKR interacting protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8709998 Prkrip1 PRKR interacting protein 1 gene DOID:630 genetic disease ISO RGD:1316893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710031 Mob3c MOB kinase activator 3C gene DOID:630 genetic disease ISO RGD:1317238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710039 Smyd5 SMYD family member 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1319335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 8710039 Smyd5 SMYD family member 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1319335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8710039 Smyd5 SMYD family member 5 gene DOID:543 dystonia ISO RGD:1319335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8710039 Smyd5 SMYD family member 5 gene DOID:630 genetic disease ISO RGD:1319335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710039 Smyd5 SMYD family member 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1319335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:0060001 withdrawal disorder ISO RGD:62037 D RGD:9068941 20231214 RGD associated with morphine dependence;protein:increased expression:brain (rat) PMID:19262551|REF_RGD_ID:401938601 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:0060001 withdrawal disorder ISO RGD:62329 D RGD:9068941 20240127 RGD associated with morphine dependence; mRNA,protein:increased expression:brain (mouse) PMID:27730515|REF_RGD_ID:401959609 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:10652 Alzheimer's disease ISO RGD:730952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18503570 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:10914 amnestic disorder treatment ISO RGD:62329 D RGD:9068941 20231214 RGD PMID:24012642|REF_RGD_ID:401938610 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:11832 visual epilepsy ISO RGD:62037 D RGD:9068941 20200609 RGD PMID:23744421|REF_RGD_ID:10395306 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:1574 alcohol use disorder ISO RGD:62329 D RGD:9068941 20240127 RGD associated with Prenatal Exposure Delayed Effects and anxiety disorder:DNA:Hypermthylation:promoter PMID:30016666|REF_RGD_ID:401959614 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:2030 anxiety disorder ameliorates ISO RGD:62037 D RGD:9068941 20231221 RGD associated with alcohol dependence PMID:24103311|REF_RGD_ID:401938663 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:2030 anxiety disorder ameliorates ISO RGD:62037 D RGD:9068941 20231221 RGD associated with alcohol use disorder PMID:18322102|PMID:21182574|PMID:25814047|REF_RGD_ID:401938616|REF_RGD_ID:401938648|REF_RGD_ID:401938652 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:2560 morphine dependence ameliorates ISO RGD:62037 D RGD:9068941 20231214 RGD PMID:21549764|PMID:25746394|REF_RGD_ID:11087075|REF_RGD_ID:401851922 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:3525 middle cerebral artery infarction ISO RGD:62037 D RGD:9068941 20200609 RGD PMID:22645329|REF_RGD_ID:10395314 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:480 movement disease ISO RGD:730952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:630 genetic disease ISO RGD:730952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:670 amphetamine abuse disease_progression ISO RGD:62329 D RGD:9068941 20231214 RGD mRNA:increased expression:brain (mouse) PMID:25959066|REF_RGD_ID:401938592 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9000499 Alcoholic Intoxication disease_progression ISO RGD:62329 D RGD:9068941 20231214 RGD mRNA:altered expression:brain (mouse) PMID:26708208|REF_RGD_ID:401853772 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9001733 Tinnitus ISO RGD:62037 D RGD:9068941 20200609 RGD mRNA:decreased expression:auditory cortex: PMID:18524887|REF_RGD_ID:8655535 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:62037 D RGD:9068941 20200609 RGD PMID:17275194|REF_RGD_ID:8655559 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9004538 Hearing Loss ISO RGD:62037 D RGD:9068941 20200609 RGD mRNA:decreased expression:auditory cortex: PMID:18524887|REF_RGD_ID:8655535 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9004538 Hearing Loss treatment ISO RGD:730952 D RGD:9068941 20200609 RGD PMID:18607918|REF_RGD_ID:8655538 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9005111 morphine withdrawal syndrome treatment ISO RGD:62037 D RGD:9068941 20240201 RGD PMID:30550948|REF_RGD_ID:401959617 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18311559 8710064 Arc activity regulated cytoskeleton associated protein gene DOID:9975 cocaine dependence ISO RGD:62329 D RGD:9068941 20231214 RGD protein:increased expression:dorsal striatum, shell of nucleus accumbens (mouse) PMID:27567310|REF_RGD_ID:401901591 8710071 Ces3 carboxylesterase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:735260 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8710071 Ces3 carboxylesterase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8710071 Ces3 carboxylesterase 3 gene DOID:0110255 cataract 5 multiple types ISO RGD:735260 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8710071 Ces3 carboxylesterase 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8710071 Ces3 carboxylesterase 3 gene DOID:630 genetic disease ISO RGD:735260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710071 Ces3 carboxylesterase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8710071 Ces3 carboxylesterase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8710090 Znf236 zinc finger protein 236 gene DOID:0050753 cerebellar ataxia ISO RGD:1320136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320136 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8710090 Znf236 zinc finger protein 236 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8710090 Znf236 zinc finger protein 236 gene DOID:630 genetic disease ISO RGD:1320136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710090 Znf236 zinc finger protein 236 gene DOID:6420 pulmonary valve stenosis ISO RGD:1320136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:8445 intestinal volvulus ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1320136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8710090 Znf236 zinc finger protein 236 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8710090 Znf236 zinc finger protein 236 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8710139 Jrk Jrk helix-turn-helix protein gene DOID:1825 childhood absence epilepsy ISO RGD:1314867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 8710139 Jrk Jrk helix-turn-helix protein gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1314867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 8710139 Jrk Jrk helix-turn-helix protein gene DOID:630 genetic disease ISO RGD:1314867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710139 Jrk Jrk helix-turn-helix protein gene DOID:9001793 Generalized Epilepsy ISO RGD:1314867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463517 8710157 Crk CRK proto-oncogene, adaptor protein gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:736380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 8710157 Crk CRK proto-oncogene, adaptor protein gene DOID:630 genetic disease ISO RGD:736380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710157 Crk CRK proto-oncogene, adaptor protein gene DOID:90 degenerative disc disease treatment ISO RGD:2405 D RGD:9068941 20200609 RGD PMID:23055810|REF_RGD_ID:11568070 8710157 Crk CRK proto-oncogene, adaptor protein gene DOID:9007102 Myocardial Ischemia ISO RGD:736380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18575777 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:732542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:0112308 central precocious puberty ISO RGD:732542 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Central precocious puberty 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:13608 biliary atresia ISO RGD:732542 D RGD:9068941 20200609 RGD PMID:14743499|REF_RGD_ID:1625622 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:3070 high grade glioma ISO RGD:732542 D RGD:9068941 20200609 RGD PMID:16288219|REF_RGD_ID:1625600 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:732542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732543 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27776119 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732543 D RGD:9068941 20211119 RGD PMID:24676147|REF_RGD_ID:150520045 8710178 Dlk1 delta like non-canonical Notch ligand 1 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:732542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:630 genetic disease ISO RGD:1604601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8710213 Pcyox1l prenylcysteine oxidase 1 like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:730948 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:24033266|PMID:24265693|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28981474|PMID:30718709|PMID:32531858|PMID:7479749 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:730948 D RGD:7240710 20180130 OMIM 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:730948 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 49 PMID:12362048|PMID:15570217|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:25775262|PMID:26306921|PMID:26496393|PMID:26802146|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30543658|PMID:30652268|PMID:30718709|PMID:32531858|PMID:36115851|PMID:7479749 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10283 prostate cancer ISO RGD:730948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:7479749 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:32037395|PMID:33090715|PMID:33946315|PMID:7479749 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730948 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12362048|PMID:16199547|PMID:18310263|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29785639|PMID:30337596|PMID:30718709|PMID:31456290|PMID:32037395|PMID:32531858|PMID:33090715|PMID:33946315|PMID:34906470|PMID:7479749 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:4448 macular degeneration ISO RGD:730948 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:24033266|PMID:24265693|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28981474|PMID:30718709|PMID:32531858|PMID:7479749 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:630 genetic disease ISO RGD:730948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8710221 Cnga1 cyclic nucleotide gated channel subunit alpha 1 gene DOID:8501 fundus dystrophy ISO RGD:730948 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12362048|PMID:23462753|PMID:24033266|PMID:24154662|PMID:24265693|PMID:25268133|PMID:25326637|PMID:25611614|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26802146|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28981474|PMID:30337596|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32037395|PMID:32531858|PMID:34906470|PMID:7479749 8710237 Twf2 twinfilin actin binding protein 2 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1312984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8710237 Twf2 twinfilin actin binding protein 2 gene DOID:0080600 COVID-19 ISO RGD:1312984 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8710237 Twf2 twinfilin actin binding protein 2 gene DOID:630 genetic disease ISO RGD:1312984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0080855 Parkinsonism ISO RGD:1315476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18243799 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0090048 dystonia 16 ISO RGD:1315476 D RGD:7240710 20180130 OMIM 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0090048 dystonia 16 ISO RGD:1315476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:18243799|PMID:18420150|PMID:24033266|PMID:24142417|PMID:25142429|PMID:25737287|PMID:25741868|PMID:26231208|PMID:26990861|PMID:28492532|PMID:29279192 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1315476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1315476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 59 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:1059 intellectual disability ISO RGD:1315476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:543 dystonia ISO RGD:1315476 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:24033266|PMID:25741868|PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:630 genetic disease ISO RGD:1315476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9001502 Congenital Microtia ISO RGD:1315476 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:25554729 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9002500 Hearing Disorders ISO RGD:1315476 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:25554729 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9004538 Hearing Loss ISO RGD:1315476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:28492532 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306707 D RGD:9068941 20200609 RGD PMID:21897745|REF_RGD_ID:7777145 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9005941 Rhinosinusitis severity ISO RGD:1315476 D RGD:9068941 20200609 RGD associated with Nasal Polyps PMID:22961479|REF_RGD_ID:7777146 8710259 Prkra protein activator of interferon induced protein kinase EIF2AK2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1315476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22194846 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:630 genetic disease ISO RGD:1320999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1320999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8710272 Ifrd2 interferon related developmental regulator 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320999 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8710293 Creg2 cellular repressor of E1A stimulated genes 2 gene DOID:630 genetic disease ISO RGD:1350803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:299 adenocarcinoma ISO RGD:736863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:630 genetic disease ISO RGD:736863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710300 Vti1a vesicle transport through interaction with t-SNAREs 1A gene DOID:9008443 Colorectal Neoplasms ISO RGD:736863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 8710333 Klhl38 kelch like family member 38 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:2300033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8710333 Klhl38 kelch like family member 38 gene DOID:630 genetic disease ISO RGD:2300033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1606000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868|PMID:28492532 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1606000 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:20591883|REF_RGD_ID:7257521 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1606000 D RGD:7240710 20180130 OMIM 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition PMID:17086182|PMID:18709391|PMID:18975016|PMID:20507940|PMID:20591883|PMID:22865593|PMID:23595123|PMID:24130771|PMID:24247120|PMID:24500309|PMID:24902943|PMID:25060053|PMID:25741868|PMID:26467025|PMID:26668027|PMID:27766458|PMID:28492532|PMID:28780565|PMID:31319225 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 8710348 Plce1 phospholipase C epsilon 1 gene DOID:0111365 benign familial hematuria ISO RGD:1606000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:25741868 8710348 Plce1 phospholipase C epsilon 1 gene DOID:1184 nephrotic syndrome ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:29127259 8710348 Plce1 phospholipase C epsilon 1 gene DOID:1184 nephrotic syndrome onset ISO RGD:1606000 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:17086182|REF_RGD_ID:7257519 8710348 Plce1 phospholipase C epsilon 1 gene DOID:12206 dengue hemorrhagic fever ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22001756 8710348 Plce1 phospholipase C epsilon 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1606000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:18975016|PMID:20507940|PMID:25060053|PMID:25741868|PMID:26467025|PMID:28492532 8710348 Plce1 phospholipase C epsilon 1 gene DOID:2921 glomerulonephritis ISO RGD:1606000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868 8710348 Plce1 phospholipase C epsilon 1 gene DOID:299 adenocarcinoma ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729852 8710348 Plce1 phospholipase C epsilon 1 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:1606000 D RGD:9068941 20220415 RGD human cells in a mouse model PMID:24796667|REF_RGD_ID:151708719 8710348 Plce1 phospholipase C epsilon 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729852|PMID:20729853 8710348 Plce1 phospholipase C epsilon 1 gene DOID:557 kidney disease ISO RGD:1606000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:22865593|PMID:25741868|PMID:26467025|PMID:28492532 8710348 Plce1 phospholipase C epsilon 1 gene DOID:576 proteinuria ISO RGD:1606000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 8710348 Plce1 phospholipase C epsilon 1 gene DOID:630 genetic disease ISO RGD:1606000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8710348 Plce1 phospholipase C epsilon 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729852 8710348 Plce1 phospholipase C epsilon 1 gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:1606000 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:18065803|REF_RGD_ID:7257520 8710384 Fam177a1 family with sequence similarity 177 member A1 gene DOID:0111921 spermatogenic failure 36 ISO RGD:1342850 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 36 PMID:30893644|PMID:34714774|PMID:34750818|PMID:8849014 8710384 Fam177a1 family with sequence similarity 177 member A1 gene DOID:630 genetic disease ISO RGD:1342850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710384 Fam177a1 family with sequence similarity 177 member A1 gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1342850 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy PMID:30893644|PMID:34714774|PMID:34750818|PMID:35812758|PMID:8849014 8710397 Chrdl2 chordin like 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1314650 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8710397 Chrdl2 chordin like 2 gene DOID:1059 intellectual disability ISO RGD:1314650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8710397 Chrdl2 chordin like 2 gene DOID:630 genetic disease ISO RGD:1314650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710415 Ica1l islet cell autoantigen 1 like gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8710415 Ica1l islet cell autoantigen 1 like gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8710415 Ica1l islet cell autoantigen 1 like gene DOID:14557 primary pulmonary hypertension ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8710415 Ica1l islet cell autoantigen 1 like gene DOID:3393 coronary artery disease ISO RGD:1346474 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8710415 Ica1l islet cell autoantigen 1 like gene DOID:630 genetic disease ISO RGD:1346474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710415 Ica1l islet cell autoantigen 1 like gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8710415 Ica1l islet cell autoantigen 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8710415 Ica1l islet cell autoantigen 1 like gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1346474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8710415 Ica1l islet cell autoantigen 1 like gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1346474 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1351044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome PMID:22444670|PMID:25741868|PMID:27050310|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:33098347|PMID:33249554|PMID:35607352 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:0111416 trichohepatoenteric syndrome 2 ISO RGD:1351044 D RGD:7240710 20180130 OMIM 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:0111416 trichohepatoenteric syndrome 2 ISO RGD:1351044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 PMID:16199547|PMID:22444670|PMID:24033266|PMID:25326635|PMID:25714577|PMID:25741868|PMID:27050310|PMID:27431780|PMID:28492532|PMID:28496993|PMID:29527791|PMID:31681265|PMID:32313153|PMID:32963807|PMID:33098347|PMID:33249554|PMID:35607352 8710451 Skic2 SKI2 subunit of superkiller complex gene DOID:630 genetic disease ISO RGD:1351044 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8710483 LOC102006745 chromosome unknown open reading frame, human C5orf24 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8710483 LOC102006745 chromosome unknown open reading frame, human C5orf24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8710483 LOC102006745 chromosome unknown open reading frame, human C5orf24 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8710511 Znf322 zinc finger protein 322 gene DOID:630 genetic disease ISO RGD:1347331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710522 Tfam transcription factor A, mitochondrial gene DOID:0080337 mitochondrial DNA depletion syndrome 15 ISO RGD:1605718 D RGD:7240710 20190315 OMIM 8710522 Tfam transcription factor A, mitochondrial gene DOID:0080337 mitochondrial DNA depletion syndrome 15 ISO RGD:1605718 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) PMID:25741868|PMID:27448789|PMID:28492532 8710522 Tfam transcription factor A, mitochondrial gene DOID:0080855 Parkinsonism ISO RGD:733567 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum PMID:22040668|REF_RGD_ID:6484267 8710522 Tfam transcription factor A, mitochondrial gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 8710522 Tfam transcription factor A, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1605718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8710522 Tfam transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 8710522 Tfam transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:SNP: :rs1937 (human) PMID:21799244|REF_RGD_ID:6767575 8710522 Tfam transcription factor A, mitochondrial gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) PMID:17537576|REF_RGD_ID:6771185 8710522 Tfam transcription factor A, mitochondrial gene DOID:12858 Huntington's disease ISO RGD:1605718 D RGD:9068941 20200609 RGD PMID:21595933|REF_RGD_ID:6770890 8710522 Tfam transcription factor A, mitochondrial gene DOID:12858 Huntington's disease ISO RGD:733567 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:20529956|REF_RGD_ID:6771173 8710522 Tfam transcription factor A, mitochondrial gene DOID:12934 Kearns-Sayre syndrome ISO RGD:733567 D RGD:9068941 20220825 MouseDO OMIM:530000 8710522 Tfam transcription factor A, mitochondrial gene DOID:13548 secondary Parkinson disease ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28595911 8710522 Tfam transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease ISO RGD:733567 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 8710522 Tfam transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease no_association ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human) PMID:17537576|REF_RGD_ID:6771185 8710522 Tfam transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease no_association ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S12T (rs1937) (human) PMID:18248889|REF_RGD_ID:6771184 8710522 Tfam transcription factor A, mitochondrial gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1605718 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS4+113A>G (rs2306604) (human) PMID:19925850|REF_RGD_ID:14389730 8710522 Tfam transcription factor A, mitochondrial gene DOID:1824 status epilepticus ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:21854834|REF_RGD_ID:6767574 8710522 Tfam transcription factor A, mitochondrial gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1605718 D RGD:9068941 20200609 RGD PMID:22354563|REF_RGD_ID:6767572 8710522 Tfam transcription factor A, mitochondrial gene DOID:630 genetic disease ISO RGD:1605718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8710522 Tfam transcription factor A, mitochondrial gene DOID:9001708 Hemorrhagic Shock ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:22469910|REF_RGD_ID:6767567 8710522 Tfam transcription factor A, mitochondrial gene DOID:9002669 Hypoxia treatment ISO RGD:620682 D RGD:9068941 20230720 RGD mRNA:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8710522 Tfam transcription factor A, mitochondrial gene DOID:9002906 Multiple Organ Failure ISO RGD:1605718 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased expression:skeletal muscle PMID:18997871|REF_RGD_ID:6771188 8710522 Tfam transcription factor A, mitochondrial gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620682 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:18723421|REF_RGD_ID:2302400 8710522 Tfam transcription factor A, mitochondrial gene DOID:9004009 Reperfusion Injury ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:22266265|REF_RGD_ID:6767573 8710522 Tfam transcription factor A, mitochondrial gene DOID:9005372 Inflammation ISO RGD:620682 D RGD:9068941 20200609 RGD PMID:22469910|REF_RGD_ID:6767567 8710522 Tfam transcription factor A, mitochondrial gene DOID:9006205 Animal Disease Models ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28595911 8710522 Tfam transcription factor A, mitochondrial gene DOID:9007170 Bowen's Disease ISO RGD:1605718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 8710522 Tfam transcription factor A, mitochondrial gene DOID:9007346 Cachexia ISO RGD:1605718 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA, protein:decreased expression:skeletal muscle PMID:17459894|REF_RGD_ID:5683621 8710522 Tfam transcription factor A, mitochondrial gene DOID:9970 obesity ISO RGD:1605718 D RGD:9068941 20200609 RGD PMID:21862610|REF_RGD_ID:5683906 8710522 Tfam transcription factor A, mitochondrial gene DOID:9970 obesity treatment ISO RGD:620682 D RGD:9068941 20230720 RGD mRNA:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:1059 intellectual disability ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:630 genetic disease ISO RGD:1607047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:9007625 Primary Autosomal Recessive Microcephaly 28 ISO RGD:1607047 D RGD:7240710 20210804 OMIM 8710536 Rrp7a ribosomal RNA processing 7 homolog A gene DOID:9007625 Primary Autosomal Recessive Microcephaly 28 ISO RGD:1607047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive PMID:33199730 8710554 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8710554 Phlpp2 PH domain and leucine rich repeat protein phosphatase 2 gene DOID:630 genetic disease ISO RGD:1604636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710588 Sez6l seizure related 6 homolog like gene DOID:0110271 cataract 23 ISO RGD:1344560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 8710588 Sez6l seizure related 6 homolog like gene DOID:10283 prostate cancer ISO RGD:1344560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8710588 Sez6l seizure related 6 homolog like gene DOID:630 genetic disease ISO RGD:1344560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1605059 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1605059 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:3068 glioblastoma ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:630 genetic disease ISO RGD:1605059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:684 hepatocellular carcinoma ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8710613 Lrrc59 leucine rich repeat containing 59 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:1353382 D RGD:7240710 20180130 OMIM 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:1353382 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 PMID:17576681|PMID:21278747|PMID:23532514|PMID:24368687|PMID:24397319|PMID:25741868|PMID:25887401|PMID:28492532|PMID:9536098 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1353382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:12849 autistic disorder ISO RGD:1353382 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:1289 neurodegenerative disease ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:5223 infertility ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:630 genetic disease ISO RGD:1353382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21278747|PMID:25741868|PMID:25887401|PMID:28492532 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:700 mitochondrial metabolism disease ISO RGD:1353382 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:863 nervous system disease ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 8710624 Ttc19 tetratricopeptide repeat domain 19 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1353382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278747 8710659 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:1909 melanoma ISO RGD:1318672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8710659 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1318672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8710659 Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 gene DOID:630 genetic disease ISO RGD:1318672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710676 Cisd2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1603794 D RGD:7240710 20180130 OMIM 8710676 Cisd2 CDGSH iron sulfur domain 2 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1603794 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 2 PMID:10739754|PMID:17576681|PMID:17846994|PMID:25056293|PMID:25371195|PMID:25741868|PMID:28492532|PMID:29237418|PMID:9536098 8710676 Cisd2 CDGSH iron sulfur domain 2 gene DOID:3633 beta-mannosidosis ISO RGD:1603794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 8710676 Cisd2 CDGSH iron sulfur domain 2 gene DOID:630 genetic disease ISO RGD:1603794 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8710676 Cisd2 CDGSH iron sulfur domain 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:0060472 Kindler syndrome ISO RGD:1315645 D RGD:7240710 20190315 OMIM 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:0060472 Kindler syndrome ISO RGD:1315645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome PMID:12668616|PMID:12789646|PMID:14507403|PMID:14962093|PMID:15313809|PMID:16199547|PMID:16675959|PMID:16702500|PMID:17178989|PMID:17460733|PMID:17916195|PMID:18528435|PMID:19292718|PMID:19762715|PMID:20938162|PMID:21336475|PMID:21936020|PMID:22220914|PMID:22466645|PMID:24346923|PMID:24635075|PMID:24635080|PMID:25156791|PMID:25437880|PMID:25599393|PMID:25741868|PMID:27293055|PMID:27862150|PMID:28443301|PMID:28492532|PMID:29130490|PMID:29453417|PMID:30838128|PMID:31340837|PMID:31957900 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:1272 telangiectasis ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:2731 vesiculobullous skin disease ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:630 genetic disease ISO RGD:1315645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:9004462 Atrophy ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 8710684 Fermt1 FERM domain containing kindlin 1 gene DOID:9006976 Erythema ISO RGD:1315645 D RGD:9068941 20200609 RGD Kindler syndrome, OMIM:173650 DNA:point_mutation:CDS:C787T, amino acid Q263X PMID:12668616|REF_RGD_ID:1600405 8710719 Fndc7 fibronectin type III domain containing 7 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604516 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8710719 Fndc7 fibronectin type III domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1604516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8710719 Fndc7 fibronectin type III domain containing 7 gene DOID:630 genetic disease ISO RGD:1604516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1321264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:5419 schizophrenia ISO RGD:1321264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8710774 Asb13 ankyrin repeat and SOCS box containing 13 gene DOID:630 genetic disease ISO RGD:1321264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710784 Itm2a integral membrane protein 2A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8710784 Itm2a integral membrane protein 2A gene DOID:0080600 COVID-19 ISO RGD:1354301 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8710784 Itm2a integral membrane protein 2A gene DOID:12849 autistic disorder ISO RGD:1354301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8710784 Itm2a integral membrane protein 2A gene DOID:630 genetic disease ISO RGD:1354301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710803 Fam83a family with sequence similarity 83 member A gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8710803 Fam83a family with sequence similarity 83 member A gene DOID:630 genetic disease ISO RGD:1602845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710803 Fam83a family with sequence similarity 83 member A gene DOID:9000918 Disease Progression ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 8710803 Fam83a family with sequence similarity 83 member A gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 8710803 Fam83a family with sequence similarity 83 member A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602845 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34931434 8710812 Hspbp1 HSPA (Hsp70) binding protein 1 gene DOID:630 genetic disease ISO RGD:734029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710848 C4bpa complement component 4 binding protein alpha gene DOID:0050589 inflammatory bowel disease ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8710848 C4bpa complement component 4 binding protein alpha gene DOID:0080600 COVID-19 severity ISO RGD:736103 D RGD:9068941 20200813 RGD DNA:SNP: :rs61821041(human) PMID:32747830|REF_RGD_ID:38500238 8710848 C4bpa complement component 4 binding protein alpha gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8710848 C4bpa complement component 4 binding protein alpha gene DOID:12849 autistic disorder ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8710848 C4bpa complement component 4 binding protein alpha gene DOID:1540 parathyroid carcinoma ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8710848 C4bpa complement component 4 binding protein alpha gene DOID:630 genetic disease ISO RGD:736103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710848 C4bpa complement component 4 binding protein alpha gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8710848 C4bpa complement component 4 binding protein alpha gene DOID:9008604 Radiation Pneumonitis ISO RGD:736103 D RGD:9068941 20200609 RGD Protein: increased expression: plasma PMID:20510197|REF_RGD_ID:5129484 8710848 C4bpa complement component 4 binding protein alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8710866 Ddx20 DEAD-box helicase 20 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8710866 Ddx20 DEAD-box helicase 20 gene DOID:630 genetic disease ISO RGD:1320818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710882 Tpm1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:11606294|PMID:11968089|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18533079|PMID:19035361|PMID:20159828|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23204897|PMID:23674513|PMID:23700264|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:27177193|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:30165862|PMID:31270709|PMID:31513939|PMID:32880476|PMID:33495597|PMID:33673806|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18533079|PMID:19035361|PMID:20159828|PMID:20215591|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21320446|PMID:21376702|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23674513|PMID:23700264|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24793961|PMID:25031304|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:27177193|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29024827|PMID:29121657|PMID:29192238|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30165862|PMID:30240712|PMID:30297972|PMID:30847666|PMID:31270709|PMID:31513939|PMID:32880476|PMID:33495597|PMID:33673806|PMID:34008892|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0050700 cardiomyopathy ISO RGD:737098 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20159828|PMID:20215591|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23071391|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23396983|PMID:23508784|PMID:23674513|PMID:23700264|PMID:23771913|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24793961|PMID:25031304|PMID:25241052|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29447731|PMID:29517769|PMID:29760186|PMID:29907873|PMID:30165862|PMID:30240712|PMID:30297972|PMID:30513141|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:31513939|PMID:32481709|PMID:32731933|PMID:32746448|PMID:32880476|PMID:32882290|PMID:33029862|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33919104|PMID:34008892|PMID:34137518|PMID:34194005|PMID:34495297|PMID:35026164|PMID:35470680|PMID:37498360|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0060480 left ventricular noncompaction ISO RGD:737098 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:22958901|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32746448|PMID:35470680 8710882 Tpm1 tropomyosin 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 8710882 Tpm1 tropomyosin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:15519027|PMID:16014439|PMID:16365313|PMID:16504640|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20965760|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24510615|PMID:25241052|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27983818|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28986452|PMID:29121657|PMID:29760186|PMID:30165862|PMID:30240712|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32882290|PMID:33297573|PMID:33673806|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9440709|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 PMID:28359939 8710882 Tpm1 tropomyosin 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:20031602|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24510615|PMID:25241052|PMID:25351510|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26936621|PMID:26960954|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28790153|PMID:28986452|PMID:29121657|PMID:29760186|PMID:30165862|PMID:30240712|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32882290|PMID:33297573|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0110309 hypertrophic cardiomyopathy 3 ISO RGD:737098 D RGD:7240710 20180130 OMIM 8710882 Tpm1 tropomyosin 1 gene DOID:0110309 hypertrophic cardiomyopathy 3 ISO RGD:737098 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 3 PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11603924|PMID:11606294|PMID:11968089|PMID:12006676|PMID:12473556|PMID:12858563|PMID:12860912|PMID:12900417|PMID:14734051|PMID:15000344|PMID:15059934|PMID:15479242|PMID:16005017|PMID:16014439|PMID:16365313|PMID:16504640|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:19035361|PMID:20031602|PMID:20117437|PMID:20161772|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23147248|PMID:23396983|PMID:23539503|PMID:23771913|PMID:24033266|PMID:24170035|PMID:24183960|PMID:24503780|PMID:24510615|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25351510|PMID:25389285|PMID:25524337|PMID:25525159|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27639548|PMID:28138913|PMID:28301460|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29398688|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29760186|PMID:30022097|PMID:30165862|PMID:31006259|PMID:31270709|PMID:32731933|PMID:32880476|PMID:32882290|PMID:33029862|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33919104|PMID:34194005|PMID:35026164|PMID:37498360|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:8774330|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:0110311 hypertrophic cardiomyopathy 21 ISO RGD:737098 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 21 PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32481709|PMID:33673806|PMID:34495297 8710882 Tpm1 tropomyosin 1 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:737098 D RGD:7240710 20180130 OMIM 8710882 Tpm1 tropomyosin 1 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:737098 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y | ClinVar Annotator: match by term: Left ventricular noncompaction 9 | ClinVar Annotator: match by term: TPM1-related condition PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11273725|PMID:11606294|PMID:11968089|PMID:12473556|PMID:12858563|PMID:12860912|PMID:14734051|PMID:15000344|PMID:15923195|PMID:16005017|PMID:16014439|PMID:16043485|PMID:16365313|PMID:16504640|PMID:17556658|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:19222994|PMID:19646950|PMID:20031602|PMID:20530761|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21551322|PMID:21741356|PMID:21835320|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:23071391|PMID:23077624|PMID:23204897|PMID:23396983|PMID:23508784|PMID:23539503|PMID:23700264|PMID:23771913|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24691700|PMID:25241052|PMID:25326635|PMID:25351510|PMID:25389285|PMID:25520664|PMID:25524337|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26688388|PMID:26899768|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27878731|PMID:28138913|PMID:28359939|PMID:28492532|PMID:28615295|PMID:28771489|PMID:28797094|PMID:28798025|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29517769|PMID:29644095|PMID:29760186|PMID:30165862|PMID:30188508|PMID:30240712|PMID:30847666|PMID:31006259|PMID:31270709|PMID:31308319|PMID:32600061|PMID:32618513|PMID:32731933|PMID:32880476|PMID:32882290|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33888711|PMID:33919104|PMID:34008892|PMID:34036930|PMID:34194005|PMID:34935411|PMID:36178741|PMID:36252119|PMID:37342443|PMID:37498360|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:10763 hypertension ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8710882 Tpm1 tropomyosin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737098 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:07729014|PMID:07898523|PMID:08205619|PMID:08523464|PMID:08774330|PMID:09060904|PMID:09440709|PMID:09822100|PMID:10400910|PMID:10900175|PMID:11044437|PMID:11136687|PMID:11273725|PMID:11603924|PMID:11606294|PMID:11968089|PMID:12006676|PMID:12169652|PMID:12473556|PMID:12651045|PMID:12858563|PMID:12860912|PMID:12900417|PMID:14734051|PMID:15000344|PMID:15059934|PMID:15249230|PMID:15479242|PMID:15519027|PMID:15923195|PMID:16005017|PMID:16014439|PMID:16043485|PMID:16199547|PMID:16365313|PMID:16504640|PMID:17556658|PMID:17576681|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18533079|PMID:19035361|PMID:19222994|PMID:19646950|PMID:19659763|PMID:20031602|PMID:20117437|PMID:20159828|PMID:20161772|PMID:20215591|PMID:20965760|PMID:21109227|PMID:21239446|PMID:21295541|PMID:21310275|PMID:21320446|PMID:21376702|PMID:21483645|PMID:21551322|PMID:21642532|PMID:21741356|PMID:21835320|PMID:21839045|PMID:21840315|PMID:22112859|PMID:22155441|PMID:22187526|PMID:22462493|PMID:22789852|PMID:22794249|PMID:22958901|PMID:23071391|PMID:23077624|PMID:23147248|PMID:23204897|PMID:23283745|PMID:23349452|PMID:23396983|PMID:23508784|PMID:23539503|PMID:23674513|PMID:23700264|PMID:23771913|PMID:24033266|PMID:24170035|PMID:24183960|PMID:24503780|PMID:24510615|PMID:24691700|PMID:24793961|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25342278|PMID:25351510|PMID:25520664|PMID:25524337|PMID:25525159|PMID:25548289|PMID:25607779|PMID:25611685|PMID:25741868|PMID:26025024|PMID:26688388|PMID:26873245|PMID:26899768|PMID:26936621|PMID:26960954|PMID:27177193|PMID:27376658|PMID:27532257|PMID:27600940|PMID:27639548|PMID:27878731|PMID:27983818|PMID:28138913|PMID:28301460|PMID:28356264|PMID:28359939|PMID:28408708|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28615295|PMID:28732641|PMID:28771489|PMID:28790153|PMID:28797094|PMID:28798025|PMID:28855170|PMID:28986452|PMID:29024827|PMID:29105867|PMID:29121657|PMID:29255176|PMID:29398688|PMID:29447731|PMID:29496559|PMID:29517769|PMID:29540472|PMID:29644095|PMID:29760186|PMID:29907873|PMID:30022097|PMID:30165862|PMID:30188508|PMID:30240712|PMID:30297972|PMID:30513141|PMID:30847666|PMID:30923642|PMID:31006259|PMID:31090107|PMID:31270709|PMID:31308319|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31983221|PMID:32183154|PMID:32481709|PMID:32600061|PMID:32618513|PMID:32731933|PMID:32746448|PMID:32880476|PMID:32882290|PMID:33029862|PMID:33082984|PMID:33297573|PMID:33495597|PMID:33642254|PMID:33673806|PMID:33888711|PMID:33906374|PMID:33919104|PMID:34008892|PMID:34036930|PMID:34137518|PMID:34194005|PMID:34495297|PMID:34540771|PMID:34834072|PMID:34935411|PMID:35026164|PMID:35470680|PMID:36178741|PMID:36252119|PMID:37342443|PMID:37498360|PMID:7729014|PMID:7898523|PMID:8205619|PMID:8523464|PMID:8774330|PMID:9060904|PMID:9245729|PMID:9400381|PMID:9440709|PMID:9536098|PMID:9822100 8710882 Tpm1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23539503|PMID:23674513|PMID:24033266|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:29024827|PMID:29517769|PMID:31333075|PMID:31568572 8710882 Tpm1 tropomyosin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:737098 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11106625|PMID:18533079|PMID:20117437|PMID:20159828|PMID:20215591|PMID:20530761|PMID:21310275|PMID:21483645|PMID:23508784|PMID:23539503|PMID:23674513|PMID:24033266|PMID:24503780|PMID:24691700|PMID:25031304|PMID:25241052|PMID:25242052|PMID:25326635|PMID:25525159|PMID:25548289|PMID:25611685|PMID:25741868|PMID:26899768|PMID:27177193|PMID:27532257|PMID:28359939|PMID:28492532|PMID:28600229|PMID:28603979|PMID:28798025|PMID:29024827|PMID:29447731|PMID:29496559|PMID:29517769|PMID:29644095|PMID:30188508|PMID:30240712|PMID:30297972|PMID:30847666|PMID:31270709|PMID:31333075|PMID:31568572|PMID:32600061|PMID:33888711|PMID:33906374|PMID:34036930|PMID:34137518|PMID:34834072|PMID:34935411|PMID:36178741|PMID:36252119|PMID:37342443 8710882 Tpm1 tropomyosin 1 gene DOID:2717 Bloom syndrome ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8710882 Tpm1 tropomyosin 1 gene DOID:2843 long QT syndrome ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prolonged QT interval PMID:24033266|PMID:25741868 8710882 Tpm1 tropomyosin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8710882 Tpm1 tropomyosin 1 gene DOID:630 genetic disease ISO RGD:737098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710882 Tpm1 tropomyosin 1 gene DOID:6419 tetralogy of Fallot ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:28359939 8710882 Tpm1 tropomyosin 1 gene DOID:9000058 Keloid ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8710882 Tpm1 tropomyosin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8710882 Tpm1 tropomyosin 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:34540771 8710882 Tpm1 tropomyosin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8710882 Tpm1 tropomyosin 1 gene DOID:9003604 Pulmonary Atresia with Intact Ventricular Septum ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum PMID:28359939 8710882 Tpm1 tropomyosin 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Effort-induced polymorphic ventricular tachycardias 8710882 Tpm1 tropomyosin 1 gene DOID:9256 colorectal cancer ISO RGD:737098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8710924 Schip1 schwannomin interacting protein 1 gene DOID:630 genetic disease ISO RGD:1320587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710965 Spata2 spermatogenesis associated 2 gene DOID:630 genetic disease ISO RGD:731260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8710978 Myo15a myosin XVA gene DOID:0050563 nonsyndromic deafness ISO RGD:1343693 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:17546645|PMID:20642360|PMID:23208854|PMID:24033266|PMID:24123792|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27068579|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30311386|PMID:31980526|PMID:33398081|PMID:35346193|PMID:7704031|PMID:9603736 8710978 Myo15a myosin XVA gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1343693 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:17546645|PMID:25741868|PMID:27573290|PMID:28492532|PMID:30303587 8710978 Myo15a myosin XVA gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1343693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8710978 Myo15a myosin XVA gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1343693 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8710978 Myo15a myosin XVA gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:1343693 D RGD:7240710 20180130 OMIM 8710978 Myo15a myosin XVA gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:1343693 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 PMID:10552926|PMID:11735029|PMID:16199547|PMID:17546645|PMID:17576681|PMID:17851452|PMID:17853461|PMID:19274735|PMID:19888295|PMID:20505086|PMID:20642360|PMID:21917145|PMID:22245518|PMID:22736430|PMID:22903915|PMID:23208854|PMID:23767834|PMID:23804846|PMID:23865914|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24123792|PMID:24130743|PMID:24206587|PMID:24498627|PMID:24853665|PMID:24875298|PMID:25262649|PMID:25373420|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26075876|PMID:26226137|PMID:26242193|PMID:26302205|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26810297|PMID:26915297|PMID:26969326|PMID:27068579|PMID:27344577|PMID:27375115|PMID:27436265|PMID:27573290|PMID:27734841|PMID:27870113|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29482514|PMID:29907799|PMID:29986705|PMID:30096381|PMID:30139988|PMID:30303587|PMID:30311386|PMID:30622556|PMID:30682115|PMID:30828794|PMID:30896630|PMID:30953472|PMID:31053783|PMID:31130284|PMID:31379920|PMID:31389194|PMID:31581539|PMID:31827275|PMID:31980526|PMID:32617096|PMID:32623615|PMID:32658404|PMID:32747562|PMID:32802042|PMID:32860223|PMID:33111345|PMID:33187236|PMID:33297549|PMID:33398081|PMID:33524517|PMID:33597575|PMID:33879512|PMID:34265623|PMID:34325055|PMID:34374074|PMID:34416374|PMID:34599368|PMID:34733312|PMID:34974475|PMID:35062939|PMID:35346193|PMID:35440622|PMID:35580552|PMID:35802133|PMID:35939872|PMID:35982127|PMID:36217262|PMID:36633841|PMID:7616538|PMID:7704031|PMID:9536098|PMID:9603736 8710978 Myo15a myosin XVA gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343693 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8710978 Myo15a myosin XVA gene DOID:10003 sensorineural hearing loss ISO RGD:1343693 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:17546645|PMID:17576681|PMID:24033266|PMID:24875298|PMID:25741868|PMID:26969326|PMID:28492532|PMID:32860223|PMID:9536098 8710978 Myo15a myosin XVA gene DOID:10983 Alport syndrome ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:28492532|PMID:30311386 8710978 Myo15a myosin XVA gene DOID:12849 autistic disorder ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8710978 Myo15a myosin XVA gene DOID:1432 blindness induces ISO RGD:1561873 D RGD:9068941 20210910 RGD DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat) PMID:21479269|REF_RGD_ID:150429616 8710978 Myo15a myosin XVA gene DOID:1432 blindness induces ISO XCO:0000181 D RGD:9068941 20210917 RGD compared to LEW/Ztm PMID:21479269|REF_RGD_ID:150429616 8710978 Myo15a myosin XVA gene DOID:1826 epilepsy ISO RGD:1343693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1343693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:630 genetic disease ISO RGD:1343693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15654330|PMID:17546645|PMID:17851452|PMID:21917145|PMID:23767834|PMID:24033266|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26467025|PMID:27375115|PMID:27870113|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31827275|PMID:32747562|PMID:7616538|PMID:7704031 8710978 Myo15a myosin XVA gene DOID:674 cleft palate ISO RGD:1343693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:9004538 Hearing Loss ISO RGD:1343693 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:17546645|PMID:17853461|PMID:20505086|PMID:21917145|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24123792|PMID:24875298|PMID:2574186|PMID:25741868|PMID:25792667|PMID:26242193|PMID:26969326|PMID:27375115|PMID:27870113|PMID:28000701|PMID:28492532|PMID:30311386|PMID:30622556|PMID:31379920|PMID:31827275|PMID:31980526|PMID:32747562|PMID:33524517|PMID:7616538|PMID:7704031 8710978 Myo15a myosin XVA gene DOID:9007233 Deafness, with Smith-Magenis Syndrome ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome PMID:11735029|PMID:17546645|PMID:19274735|PMID:24033266|PMID:28492532 8710978 Myo15a myosin XVA gene DOID:9008086 Developmental Disabilities ISO RGD:1343693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 8711048 Tollip toll interacting protein gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 8711048 Tollip toll interacting protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8711048 Tollip toll interacting protein gene DOID:0080773 delta beta-thalassemia ISO RGD:1312257 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8711048 Tollip toll interacting protein gene DOID:0111969 immunodeficiency 39 ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8711048 Tollip toll interacting protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8711048 Tollip toll interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8711048 Tollip toll interacting protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 8711048 Tollip toll interacting protein gene DOID:630 genetic disease ISO RGD:1312257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711048 Tollip toll interacting protein gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1312257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8711063 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1316058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8711063 Slc4a1ap solute carrier family 4 member 1 adaptor protein gene DOID:630 genetic disease ISO RGD:1316058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711089 Angpt2 angiopoietin 2 gene DOID:0001816 angiosarcoma ISO RGD:730844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 8711089 Angpt2 angiopoietin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730844 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 8711089 Angpt2 angiopoietin 2 gene DOID:0050876 Caroli disease ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:bile duct (rat) PMID:16628643|REF_RGD_ID:2314213 8711089 Angpt2 angiopoietin 2 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 8711089 Angpt2 angiopoietin 2 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:25741868|PMID:28492532 8711089 Angpt2 angiopoietin 2 gene DOID:0080600 COVID-19 severity ISO RGD:730844 D RGD:9068941 20200626 RGD protein:increased expression:plasma (human) PMID:32458111|REF_RGD_ID:32716385 8711089 Angpt2 angiopoietin 2 gene DOID:1059 intellectual disability ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8711089 Angpt2 angiopoietin 2 gene DOID:10762 portal hypertension ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:19070926|REF_RGD_ID:2314171 8711089 Angpt2 angiopoietin 2 gene DOID:10808 gastric ulcer ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:stomach (rat) PMID:12768384|REF_RGD_ID:1601496 8711089 Angpt2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity ISO RGD:1550503 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:17065527|REF_RGD_ID:2314207 8711089 Angpt2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:17692314|REF_RGD_ID:2314205 8711089 Angpt2 angiopoietin 2 gene DOID:13025 retinopathy of prematurity susceptibility ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:17692314|REF_RGD_ID:2314205 8711089 Angpt2 angiopoietin 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus (rat) PMID:16628643|REF_RGD_ID:2314213 8711089 Angpt2 angiopoietin 2 gene DOID:2316 brain ischemia ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:17494864|REF_RGD_ID:2314206 8711089 Angpt2 angiopoietin 2 gene DOID:2527 nephrosis ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:18929866|REF_RGD_ID:2314177 8711089 Angpt2 angiopoietin 2 gene DOID:2527 nephrosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:18929864|REF_RGD_ID:2314178 8711089 Angpt2 angiopoietin 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:730844 D RGD:9068941 20200609 RGD PMID:15705099|REF_RGD_ID:2293853 8711089 Angpt2 angiopoietin 2 gene DOID:2870 endometrial adenocarcinoma ISO RGD:730844 D RGD:9068941 20200609 RGD protein:increased expression:endometrium epithelium PMID:17295646|REF_RGD_ID:2293852 8711089 Angpt2 angiopoietin 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:16014048|REF_RGD_ID:2314222 8711089 Angpt2 angiopoietin 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus (rat) PMID:18272601|REF_RGD_ID:2314193 8711089 Angpt2 angiopoietin 2 gene DOID:299 adenocarcinoma ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:cerebrum, blood vessels (rat) PMID:10373119|REF_RGD_ID:2314294 8711089 Angpt2 angiopoietin 2 gene DOID:3070 high grade glioma ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:18615861|REF_RGD_ID:2314189 8711089 Angpt2 angiopoietin 2 gene DOID:3247 rhabdomyosarcoma ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel (rat) PMID:17849463|REF_RGD_ID:2314204 8711089 Angpt2 angiopoietin 2 gene DOID:326 ischemia ISO RGD:621861 D RGD:9068941 20200609 RGD PMID:19672036|REF_RGD_ID:2313934 8711089 Angpt2 angiopoietin 2 gene DOID:4676 uremia ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:omentum (rat) PMID:18751736|REF_RGD_ID:2314180 8711089 Angpt2 angiopoietin 2 gene DOID:4762 vasculogenic impotence ISO RGD:621861 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia; mRNA, protein:decreased expression:cavernous body of penis (rat) PMID:16750245|REF_RGD_ID:2314210 8711089 Angpt2 angiopoietin 2 gene DOID:5844 myocardial infarction ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:left ventricular wall, heart septum (rat) PMID:16714360|REF_RGD_ID:1601493 8711089 Angpt2 angiopoietin 2 gene DOID:630 genetic disease ISO RGD:730844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 8711089 Angpt2 angiopoietin 2 gene DOID:6432 pulmonary hypertension ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery (rat) PMID:19712575|REF_RGD_ID:2314185 8711089 Angpt2 angiopoietin 2 gene DOID:8947 diabetic retinopathy ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:16520919|REF_RGD_ID:2314216 8711089 Angpt2 angiopoietin 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:bile duct (rat) PMID:16628643|REF_RGD_ID:2314213 8711089 Angpt2 angiopoietin 2 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:730844 D RGD:7240710 20210616 OMIM 8711089 Angpt2 angiopoietin 2 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:730844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 10 PMID:32908006 8711089 Angpt2 angiopoietin 2 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730844 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma PMID:15209761|REF_RGD_ID:2313816 8711089 Angpt2 angiopoietin 2 gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:730844 D RGD:9068941 20200609 RGD PMID:24959006|REF_RGD_ID:15014784 8711089 Angpt2 angiopoietin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple organs (rat) PMID:18978178|REF_RGD_ID:2314174 8711089 Angpt2 angiopoietin 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:18692629|REF_RGD_ID:2314184 8711089 Angpt2 angiopoietin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621861 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:15047628|REF_RGD_ID:2313817 8711089 Angpt2 angiopoietin 2 gene DOID:9005749 Necrosis ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, stellate cell, macrophage (rat) PMID:15135347|REF_RGD_ID:2314239 8711089 Angpt2 angiopoietin 2 gene DOID:9007096 Stroke ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:15637314|REF_RGD_ID:1626166 8711089 Angpt2 angiopoietin 2 gene DOID:9007661 Dwarfism ISO RGD:730844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 8711089 Angpt2 angiopoietin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621861 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium (rat) PMID:12737621|REF_RGD_ID:1601505 8711089 Angpt2 angiopoietin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730844 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15823283|REF_RGD_ID:2313815 8711111 CUNH6orf201 chromosome unknown C6orf201 homolog gene DOID:630 genetic disease ISO RGD:1354340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711121 Aste1 asteroid homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1606299 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 8711121 Aste1 asteroid homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:1606299 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 8711121 Aste1 asteroid homolog 1 gene DOID:630 genetic disease ISO RGD:1606299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711121 Aste1 asteroid homolog 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8711121 Aste1 asteroid homolog 1 gene DOID:9270 alkaptonuria ISO RGD:1606299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8711142 Nek9 NIMA related kinase 9 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome PMID:25741868 8711142 Nek9 NIMA related kinase 9 gene DOID:10283 prostate cancer ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8711142 Nek9 NIMA related kinase 9 gene DOID:1059 intellectual disability ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8711142 Nek9 NIMA related kinase 9 gene DOID:630 genetic disease ISO RGD:1316228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31131953 8711142 Nek9 NIMA related kinase 9 gene DOID:674 cleft palate ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate 8711142 Nek9 NIMA related kinase 9 gene DOID:9003288 Lethal Congenital Contracture Syndrome 10 ISO RGD:1316228 D RGD:7240710 20190315 OMIM 8711142 Nek9 NIMA related kinase 9 gene DOID:9003288 Lethal Congenital Contracture Syndrome 10 ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10 PMID:25741868|PMID:26908619 8711142 Nek9 NIMA related kinase 9 gene DOID:9008794 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY ISO RGD:1316228 D RGD:7240710 20190315 OMIM 8711142 Nek9 NIMA related kinase 9 gene DOID:9008794 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy PMID:25741868|PMID:26633546|PMID:28492532 8711142 Nek9 NIMA related kinase 9 gene DOID:9009038 Nevus Comedonicus ISO RGD:1316228 D RGD:7240710 20190315 OMIM 8711142 Nek9 NIMA related kinase 9 gene DOID:9009038 Nevus Comedonicus ISO RGD:1316228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nevus comedonicus PMID:27153399 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1350415 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8711184 Hectd1 HECT domain E3 ubiquitin protein ligase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350415 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8711236 Tulp1 TUB like protein 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1322319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8711236 Tulp1 TUB like protein 1 gene DOID:0050581 brachydactyly ISO RGD:1322319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:15024725|PMID:31549751 8711236 Tulp1 TUB like protein 1 gene DOID:0050817 Stargardt disease ISO RGD:1322319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 8711236 Tulp1 TUB like protein 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17620573|PMID:17962469|PMID:21792230|PMID:23661368|PMID:25741868|PMID:26394700|PMID:26856745|PMID:28492532|PMID:28559085|PMID:29178942|PMID:33691693|PMID:33851411|PMID:9462750 8711236 Tulp1 TUB like protein 1 gene DOID:0110189 Leber congenital amaurosis 15 ISO RGD:1322319 D RGD:7240710 20180130 OMIM 8711236 Tulp1 TUB like protein 1 gene DOID:0110189 Leber congenital amaurosis 15 ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 15 PMID:10549638|PMID:15024725|PMID:16199547|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:19339744|PMID:21792230|PMID:22665969|PMID:23105016|PMID:23847139|PMID:24265693|PMID:25074776|PMID:25342276|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26448634|PMID:28492532|PMID:29641573|PMID:30054919|PMID:30337596|PMID:30950243|PMID:31054281|PMID:31549751|PMID:31736247|PMID:32037395|PMID:33781268|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1322319 D RGD:7240710 20180130 OMIM 8711236 Tulp1 TUB like protein 1 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1322319 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 14 PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:16199547|PMID:17576681|PMID:17620573|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:21792230|PMID:22665969|PMID:23105016|PMID:23499059|PMID:23591405|PMID:23661368|PMID:25324289|PMID:25342276|PMID:25741868|PMID:26103963|PMID:26355662|PMID:26427415|PMID:26766544|PMID:26856745|PMID:26987071|PMID:27440997|PMID:28127548|PMID:28492532|PMID:28559085|PMID:28981474|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30950243|PMID:31429209|PMID:31630094|PMID:32531858|PMID:32901917|PMID:33090715|PMID:33691693|PMID:33921607|PMID:33946315|PMID:34906470|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322319 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:22605927|PMID:23105016|PMID:23847139|PMID:24033266|PMID:24265693|PMID:25324289|PMID:25342276|PMID:25342620|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29625443|PMID:29843741|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31630094|PMID:32531858|PMID:32901917|PMID:33090715|PMID:33173045|PMID:33576794|PMID:33946315|PMID:34906470|PMID:36909829|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322319 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10440267|PMID:10549638|PMID:15024725|PMID:15557452|PMID:17576681|PMID:17962469|PMID:18055821|PMID:18432314|PMID:18936139|PMID:22605927|PMID:23105016|PMID:23847139|PMID:24033266|PMID:24265693|PMID:25324289|PMID:25342276|PMID:25342620|PMID:25692139|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29625443|PMID:29843741|PMID:30054919|PMID:30337596|PMID:30718709|PMID:31630094|PMID:32531858|PMID:32901917|PMID:33090715|PMID:33173045|PMID:33576794|PMID:33691693|PMID:33946315|PMID:34906470|PMID:36909829|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322319 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10549638|PMID:15024725|PMID:18055821|PMID:18936139|PMID:23105016|PMID:25342276|PMID:25741868|PMID:26355662|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:30054919|PMID:30718709|PMID:32531858|PMID:34906470|PMID:8606774|PMID:9462750|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:630 genetic disease ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8711236 Tulp1 TUB like protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1322319 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10549638|PMID:15024725|PMID:17576681|PMID:18055821|PMID:18432314|PMID:22605927|PMID:22665969|PMID:24265693|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26427415|PMID:26766544|PMID:28127548|PMID:28492532|PMID:28981474|PMID:29641573|PMID:30337596|PMID:30718709|PMID:31054281|PMID:32531858|PMID:33173045|PMID:33781268|PMID:34906470|PMID:8606774|PMID:9462750|PMID:9462751|PMID:9536098|PMID:9660588 8711236 Tulp1 TUB like protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1322319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10549638|PMID:15024725|PMID:18055821|PMID:18936139|PMID:23105016|PMID:25342276|PMID:25741868|PMID:26355662|PMID:28492532|PMID:30054919|PMID:8606774 8711254 St7 suppression of tumorigenicity 7 gene DOID:4450 renal cell carcinoma ISO RGD:1343912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 8711254 St7 suppression of tumorigenicity 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8711254 St7 suppression of tumorigenicity 7 gene DOID:630 genetic disease ISO RGD:1343912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711254 St7 suppression of tumorigenicity 7 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1343912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 8711254 St7 suppression of tumorigenicity 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1343912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 8711299 Ubl4b ubiquitin like 4B gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1602973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 8711299 Ubl4b ubiquitin like 4B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1602973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8711299 Ubl4b ubiquitin like 4B gene DOID:12849 autistic disorder ISO RGD:1602973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8711299 Ubl4b ubiquitin like 4B gene DOID:630 genetic disease ISO RGD:1602973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1316413 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:22851008|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171|PMID:33767344|PMID:35428369|PMID:35599849 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050646 distal arthrogryposis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050700 cardiomyopathy ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0060249 scoliosis ISO RGD:1316413 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:17483490|PMID:18253926|PMID:19191329|PMID:19645060|PMID:21062345|PMID:22473935|PMID:23069638|PMID:23394784|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24091937|PMID:25741868|PMID:27447704|PMID:28492532|PMID:30236257|PMID:32899693|PMID:34106991 8711305 Ryr1 ryanodine receptor 1 gene DOID:0060260 ptosis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ptosis PMID:10484775|PMID:11575529|PMID:12059893|PMID:12220451|PMID:12434264|PMID:16084090|PMID:16835904|PMID:16917943|PMID:18564|PMID:19648156|PMID:19919814|PMID:21118704|PMID:21514828|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24433488|PMID:25558065|PMID:25741868|PMID:25960145|PMID:27586648|PMID:28492532|PMID:30236257|PMID:31206373|PMID:9497245 8711305 Ryr1 ryanodine receptor 1 gene DOID:0060604 ankyloglossia ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tongue tie PMID:16835904|PMID:24033266|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1316413 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26 PMID:11575529|PMID:12565913|PMID:1354642|PMID:15448513|PMID:18564801|PMID:19648156|PMID:23558838|PMID:23919265|PMID:25741868|PMID:27857962|PMID:28492532|PMID:6917943|PMID:9334205|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080000 muscular disease ISO RGD:1316413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:12467748|PMID:12565913|PMID:1256913|PMID:14670767|PMID:15731587|PMID:16199547|PMID:16917943|PMID:18414213|PMID:20583297|PMID:20839240|PMID:22473935|PMID:23183335|PMID:23553787|PMID:23558838|PMID:23919265|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25960145|PMID:28325813|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29576327|PMID:30155738|PMID:30611313 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35599849|PMID:36208971|PMID:36628841|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12565913|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080102 congenital myopathy 4A ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital fiber-type disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080700 caudal regression syndrome ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of sacrum PMID:10484775|PMID:11575529|PMID:12059893|PMID:12220451|PMID:12434264|PMID:16084090|PMID:16835904|PMID:16917943|PMID:18564|PMID:19648156|PMID:19919814|PMID:21118704|PMID:21514828|PMID:23558838|PMID:23919265|PMID:24033266|PMID:24433488|PMID:25558065|PMID:25741868|PMID:25960145|PMID:27586648|PMID:28492532|PMID:30236257|PMID:31206373|PMID:9497245 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080718 GNE myopathy ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita | ClinVar Annotator: match by term: Guérin-Stern syndrome | ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis PMID:20839240|PMID:21911697|PMID:22473935|PMID:22526018|PMID:23394784|PMID:23826317|PMID:24195946|PMID:25658027|PMID:25735680|PMID:25741868|PMID:28492532|PMID:28818389|PMID:30611313|PMID:30652412|PMID:31407473|PMID:31559918|PMID:31680123|PMID:32978841|PMID:34463354|PMID:35548885 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080990 King Denborough syndrome ISO RGD:1316413 D RGD:7240710 20240320 OMIM 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080990 King Denborough syndrome ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: King Denborough syndrome | ClinVar Annotator: match by term: King syndrome PMID:10051009|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25086907|PMID:25214167|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25558065|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26578207|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:7240710 20240320 OMIM 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:10888602|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26633545|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27854218|PMID:28003660|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34528764|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35535697|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8828983|PMID:9334205 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:10888602|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12719381|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26633545|PMID:26841830|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27066551|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27353517|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27854218|PMID:27857962|PMID:28003660|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32371413|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33726816|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373 8711305 Ryr1 ryanodine receptor 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy PMID:34463354|PMID:34528764|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8828983|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:0081337 congenital myopathy ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar Annotator: match by term: Congenital myopathy PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23035052|PMID:23394784|PMID:23553787|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:25428687|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:26019235|PMID:26332594|PMID:27382027|PMID:28492532|PMID:28818389|PMID:30122538|PMID:30325262|PMID:30652412|PMID:30724636|PMID:31407473|PMID:31680123|PMID:32054689|PMID:32236737|PMID:32978841|PMID:33458582|PMID:33767344|PMID:34463354 8711305 Ryr1 ryanodine receptor 1 gene DOID:0081337 congenital myopathy ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23035052|PMID:23394784|PMID:23553787|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:25428687|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25960145|PMID:26019235|PMID:26332594|PMID:27382027|PMID:28492532|PMID:28818389|PMID:30122538|PMID:30325262|PMID:30611313|PMID:30652412|PMID:30724636|PMID:31407473|PMID:31680123|PMID:32054689|PMID:32236737|PMID:32978841|PMID:33458582|PMID:33767344|PMID:34463354|PMID:35548885 8711305 Ryr1 ryanodine receptor 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21674524|PMID:21911697|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24950660|PMID:24951453|PMID:25214167|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25958340|PMID:25960145|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31680349|PMID:33333461|PMID:34008892|PMID:36628841 8711305 Ryr1 ryanodine receptor 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1316413 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates PMID:25741868|PMID:28492532|PMID:29635721 8711305 Ryr1 ryanodine receptor 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:24195946|PMID:25741868|PMID:28259615|PMID:28492532|PMID:33564012|PMID:34008892 8711305 Ryr1 ryanodine receptor 1 gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:25658027|PMID:25735680|PMID:25741868|PMID:28492532|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32978841|PMID:34463354|PMID:35548885 8711305 Ryr1 ryanodine receptor 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence PMID:20839240|PMID:21911697|PMID:22473935|PMID:23394784|PMID:25658027|PMID:25735680|PMID:25741868|PMID:28492532|PMID:30652412|PMID:31407473|PMID:31680123|PMID:32978841|PMID:34463354|PMID:35548885 8711305 Ryr1 ryanodine receptor 1 gene DOID:10591 pre-eclampsia ISO RGD:1316413 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8711305 Ryr1 ryanodine receptor 1 gene DOID:11476 osteoporosis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:11714 gestational diabetes ISO RGD:1316413 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8711305 Ryr1 ryanodine receptor 1 gene DOID:11836 clubfoot ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16380615|PMID:17033962|PMID:17365175|PMID:17483490|PMID:18253|PMID:18253926|PMID:21911697|PMID:25741868|PMID:28492532|PMID:30611313|PMID:7299413 8711305 Ryr1 ryanodine receptor 1 gene DOID:13100 intracranial vasospasm ISO RGD:1316413 D RGD:9068941 20230520 RGD associated with Subarachnoid Hemorrhage; c.6178G>T(rs35364374)(human) PMID:21503806|REF_RGD_ID:329811998 8711305 Ryr1 ryanodine receptor 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1316413 D RGD:9068941 20230520 RGD protein:increased phosphorylation:vastus lateralis PMID:23972212|REF_RGD_ID:329812002 8711305 Ryr1 ryanodine receptor 1 gene DOID:14717 centronuclear myopathy ISO RGD:1316413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:17576681|PMID:22473935|PMID:25741868|PMID:28492532|PMID:9536098 8711305 Ryr1 ryanodine receptor 1 gene DOID:1657 ventricular septal defect ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:16835904|PMID:24033266|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:1686 glaucoma ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:1882 atrial heart septal defect ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:16835904|PMID:24033266|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1586637 D RGD:9068941 20230525 RGD mRNA,protein:increased expression:cartilage PMID:32619649|REF_RGD_ID:329845531 8711305 Ryr1 ryanodine receptor 1 gene DOID:2843 long QT syndrome ISO RGD:1316413 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:7240710 20240320 OMIM 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:12566385|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958053|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32573669|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34539730|PMID:34809703|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12112081|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:12566385|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958053|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204054|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18312400|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:21989361|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25370123|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27616680|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:2842332|PMID:28424332|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28750945|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29629541|PMID:29635721|PMID:29792937 8711305 Ryr1 ryanodine receptor 1 gene DOID:3529 congenital myopathy 1A ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680123|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32371413|PMID:32403337|PMID:32528171|PMID:32573669|PMID:32665702|PMID:32861507|PMID:33146414|PMID:33258288|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34539730|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:35627144|PMID:35693006|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10097181|PMID:11274444|PMID:11575529|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15448513|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29293505|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:33333461|PMID:34008892|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10097181|PMID:11274444|PMID:11709545|PMID:11741831|PMID:12123492|PMID:12642598|PMID:15175001|PMID:15210166|PMID:15221887|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:16621918|PMID:16732084|PMID:16917943|PMID:16940|PMID:16940308|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:18171678|PMID:18253|PMID:18253926|PMID:18414213|PMID:18564801|PMID:18765655|PMID:19191333|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19825159|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21674524|PMID:21825032|PMID:21911697|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22992668|PMID:23329375|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24950660|PMID:25084811|PMID:25214167|PMID:25256590|PMID:25326635|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28818389|PMID:29172004|PMID:29298851|PMID:29382405|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30611313|PMID:30652412|PMID:30788618|PMID:31055738|PMID:31127727|PMID:31407473|PMID:31559918|PMID:31680123|PMID:31903994|PMID:32528171|PMID:32978841|PMID:33333461|PMID:34008892|PMID:34463354|PMID:4149045|PMID:7299413|PMID:8661021|PMID:9199552 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35535697|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35599849|PMID:36208971|PMID:36628841|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:422 congenital structural myopathy ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10756965|PMID:10823104|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:12059893|PMID:12123492|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411788|PMID:12434264|PMID:12642598|PMID:12700608|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14670767|PMID:14732627|PMID:14985404|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16272262|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17204937|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18253|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18813041|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20301436|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24195946|PMID:24215330|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25476234|PMID:25517095|PMID:25525159|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26633545|PMID:26951757|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28007021|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30652412|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31165076|PMID:31206373|PMID:31304636|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31680123|PMID:31680349|PMID:31903994|PMID:31994743|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32978841|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34625927|PMID:34645488|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35548885|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:423 myopathy ISO RGD:1316413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myopathy PMID:12467748|PMID:12565913|PMID:1256913|PMID:14670767|PMID:15731587|PMID:16199547|PMID:16917943|PMID:18414213|PMID:20583297|PMID:20839240|PMID:22473935|PMID:23183335|PMID:23553787|PMID:23558838|PMID:23919265|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25960145|PMID:28325813|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29576327|PMID:30155738|PMID:30611313 8711305 Ryr1 ryanodine receptor 1 gene DOID:440 neuromuscular disease ISO RGD:1316413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:16917943|PMID:17033962|PMID:17483490|PMID:17576681|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19645060|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21062345|PMID:21455645|PMID:21911697|PMID:22473935|PMID:23069638|PMID:23394784|PMID:23553484|PMID:23553787|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24627108|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26019235|PMID:26068069|PMID:26332594|PMID:26467025|PMID:26633545|PMID:27447704|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30236257|PMID:30609409|PMID:30611313|PMID:30842289|PMID:30872186|PMID:31680349|PMID:32403337|PMID:33190635|PMID:33333461|PMID:34106991|PMID:34428338|PMID:35627144|PMID:9536098 8711305 Ryr1 ryanodine receptor 1 gene DOID:4450 renal cell carcinoma ISO RGD:1316413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8711305 Ryr1 ryanodine receptor 1 gene DOID:543 dystonia ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:5844 myocardial infarction ISO RGD:1586637 D RGD:9068941 20230525 RGD protein:hyperphosphorylation:extensor digitorum longus: PMID:12824280|REF_RGD_ID:329813076 8711305 Ryr1 ryanodine receptor 1 gene DOID:6000 congestive heart failure ISO RGD:1316413 D RGD:9068941 20230525 RGD PMID:29593014|REF_RGD_ID:329813079 8711305 Ryr1 ryanodine receptor 1 gene DOID:6000 congestive heart failure ISO RGD:1316414 D RGD:9068941 20230525 RGD PMID:29593014|REF_RGD_ID:329813079 8711305 Ryr1 ryanodine receptor 1 gene DOID:630 genetic disease ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051009|PMID:10097041|PMID:10352931|PMID:10484775|PMID:10700782|PMID:10756965|PMID:10793526|PMID:11448278|PMID:11493496|PMID:11553045|PMID:11575529|PMID:11668625|PMID:12059893|PMID:12066726|PMID:12124989|PMID:12151923|PMID:12208234|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12732639|PMID:12937085|PMID:1329581|PMID:14500992|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16380615|PMID:1639409|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:17033962|PMID:17081152|PMID:17226826|PMID:17483490|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18193641|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564801|PMID:1862346|PMID:18765655|PMID:18945287|PMID:19191329|PMID:19191333|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:20142353|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20952238|PMID:21062345|PMID:21157159|PMID:21455645|PMID:21674524|PMID:21795085|PMID:21965348|PMID:22473935|PMID:22992668|PMID:23069638|PMID:23308296|PMID:23394784|PMID:23459219|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24091937|PMID:24195946|PMID:24433488|PMID:24561095|PMID:24706162|PMID:25268394|PMID:25517095|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25882082|PMID:25957634|PMID:25960145|PMID:25987458|PMID:25989378|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26951757|PMID:26994242|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27573175|PMID:27586648|PMID:27646467|PMID:27831900|PMID:27918309|PMID:28063098|PMID:28326467|PMID:28492532|PMID:28687594|PMID:28818389|PMID:29178655|PMID:29382405|PMID:29635721|PMID:29792937|PMID:30155320|PMID:30236257|PMID:30236258|PMID:30406384|PMID:30499100|PMID:30611313|PMID:30788618|PMID:31016048|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31841587|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33333461|PMID:33458582|PMID:34106991|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34809703|PMID:35428369|PMID:35535697|PMID:35627144|PMID:4149045|PMID:7511586|PMID:7547049|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8401544|PMID:8602662|PMID:8661021|PMID:8828983|PMID:9030597|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9497245|PMID:9520251|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:1586637 D RGD:9068941 20230525 RGD protein:altered localization: : PMID:24692174|REF_RGD_ID:329813077 8711305 Ryr1 ryanodine receptor 1 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:7240710 20240320 OMIM 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21088110|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:214555645|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25356970|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33490280|PMID:33625594|PMID:34008892|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33767344|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29635721|PMID:29792937|PMID:30115273 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32165824|PMID:32236737|PMID:32337335|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:36208971|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32165824|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:36208971|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:36208971|PMID:36628841|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34428338|PMID:34463354|PMID:34535181|PMID:34809703|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36628841|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11113224|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12161072|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16244682|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732080|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17293538|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18063506|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22550088|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24013571|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24706162|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25628744|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25882082|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26631338|PMID:26633545|PMID:26684984|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:28492532|PMID:28496993|PMID:28527222|PMID:28584051|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29556213|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155320|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31618753|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32337335|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32861507|PMID:32919876|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:8545 malignant hyperthermia treatment ISO RGD:1316414 D RGD:9068941 20230520 RGD PMID:34257294|PMID:34980804|REF_RGD_ID:329812000|REF_RGD_ID:329812001 8711305 Ryr1 ryanodine receptor 1 gene DOID:8927 learning disability ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1586637 D RGD:9068941 20230622 RGD protein:hyperoxidation,hypernitrosylation:gastrocnemius muscle PMID:27998200|REF_RGD_ID:329853757 8711305 Ryr1 ryanodine receptor 1 gene DOID:9000884 Rhabdomyolysis ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:25741868|PMID:28779239 8711305 Ryr1 ryanodine receptor 1 gene DOID:9002119 Malignant Hypothermia ISO RGD:1316413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant hypothermia PMID:14732627|PMID:16163667|PMID:16732084|PMID:16917943|PMID:18253926|PMID:18414213|PMID:19191329|PMID:19191333|PMID:20839240|PMID:20981092|PMID:21455645|PMID:21503806|PMID:21674524|PMID:22913516|PMID:22995991|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23558838|PMID:23628358|PMID:24195946|PMID:25735680|PMID:25741868|PMID:25957634|PMID:26467025|PMID:26994242|PMID:27153395|PMID:28003660|PMID:28492532|PMID:30122538|PMID:30611313|PMID:30724636|PMID:32236737|PMID:33333461|PMID:33458582 8711305 Ryr1 ryanodine receptor 1 gene DOID:9003163 Heart Block ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Heart block PMID:16835904|PMID:24033266|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:9003760 Myalgia ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myalgia PMID:24195946|PMID:25741868|PMID:28259615|PMID:28492532|PMID:33564012|PMID:34008892 8711305 Ryr1 ryanodine receptor 1 gene DOID:9004484 Sepsis ISO RGD:1586637 D RGD:9068941 20230615 RGD mRNA:increased expression:fast muscle tissue PMID:18520643|REF_RGD_ID:329849107 8711305 Ryr1 ryanodine receptor 1 gene DOID:9004484 Sepsis ISO RGD:1586637 D RGD:9068941 20230615 RGD protein:decreased expression:diaphragmaticus muscle PMID:28044347|REF_RGD_ID:329849111 8711305 Ryr1 ryanodine receptor 1 gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:1316413 D RGD:9068941 20230525 RGD DAN:SNPs:introns:rs2071090,rs10500279,rs2960321(human) PMID:21828061|REF_RGD_ID:329812015 8711305 Ryr1 ryanodine receptor 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:1316414 D RGD:9068941 20230520 RGD PMID:34257294|REF_RGD_ID:329812001 8711305 Ryr1 ryanodine receptor 1 gene DOID:9004757 Axial Myopathy, Late-Onset ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Axial myopathy, late-onset PMID:23329375|PMID:24033266|PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber ISO RGD:1316413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:10888602|PMID:11709545|PMID:11741831|PMID:12565913|PMID:14670767|PMID:14732627|PMID:14985404|PMID:15731587|PMID:16163667|PMID:16372898|PMID:16621918|PMID:16732084|PMID:16835904|PMID:16917943|PMID:16940308|PMID:17081152|PMID:17226826|PMID:17365175|PMID:17483490|PMID:17538032|PMID:17576681|PMID:18414213|PMID:18719443|PMID:19191329|PMID:19191333|PMID:19346234|PMID:19513315|PMID:19807743|PMID:20142353|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20981092|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21965348|PMID:22415532|PMID:22473935|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23460944|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25461839|PMID:25521991|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26332594|PMID:26467025|PMID:26565425|PMID:26994242|PMID:27147545|PMID:27153395|PMID:28003660|PMID:28326467|PMID:28492532|PMID:28496993|PMID:28687594|PMID:28818389|PMID:29178655|PMID:29298851|PMID:29382405|PMID:30122538|PMID:30236257|PMID:30325262|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30864471|PMID:31135626|PMID:31559918|PMID:31742715|PMID:32098966|PMID:32528171|PMID:37273706|PMID:37510298|PMID:9536098 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18193641|PMID:18212565|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:31016048|PMID:31055738|PMID:31135626|PMID:31206373|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33333461|PMID:33625594|PMID:33767344|PMID:34008892|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27382027|PMID:27431030|PMID:27555149|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29576327|PMID:29608462|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31135626|PMID:31206373|PMID:31301762|PMID:31321302|PMID:31447099|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:32054689|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28063098|PMID:28166811|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327|PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32528171|PMID:32665702|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:35285867|PMID:35428369|PMID:35535697|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:10051009|PMID:10097181|PMID:10352931|PMID:10484775|PMID:10612851|PMID:10700782|PMID:10756965|PMID:10793526|PMID:10823104|PMID:10888602|PMID:11063719|PMID:11274444|PMID:11448278|PMID:11493496|PMID:11524458|PMID:11525881|PMID:11553045|PMID:11575529|PMID:11668625|PMID:11673462|PMID:11709545|PMID:11741831|PMID:11928716|PMID:12059893|PMID:12066726|PMID:12123492|PMID:12124989|PMID:12136074|PMID:12151923|PMID:12208234|PMID:12220451|PMID:12237752|PMID:12411786|PMID:12411788|PMID:12434|PMID:12434264|PMID:12467748|PMID:12565913|PMID:1256913|PMID:12642598|PMID:12700608|PMID:12709367|PMID:12732639|PMID:12883402|PMID:12937085|PMID:1329581|PMID:1354642|PMID:14500992|PMID:14641996|PMID:14670767|PMID:14708096|PMID:14732627|PMID:14985404|PMID:14999498|PMID:1510267|PMID:15108991|PMID:15175001|PMID:15210166|PMID:15221887|PMID:15281512|PMID:15299003|PMID:15448513|PMID:15731587|PMID:16084090|PMID:16163667|PMID:16199547|PMID:16244001|PMID:16272262|PMID:16284304|PMID:16372898|PMID:16380615|PMID:1639409|PMID:16521288|PMID:16621918|PMID:16732084|PMID:16732090|PMID:16732128|PMID:16835904|PMID:16917943|PMID:16940|PMID:16940308|PMID:16958617|PMID:17033962|PMID:17081152|PMID:17122579|PMID:17204937|PMID:17226826|PMID:17365175|PMID:1743490|PMID:17483490|PMID:17538032|PMID:17576681|PMID:17667581|PMID:17710899|PMID:1774073|PMID:1774074|PMID:17968765|PMID:1810122|PMID:18171678|PMID:18193641|PMID:18212565|PMID:18253|PMID:18253926|PMID:18306019|PMID:18414213|PMID:18502356|PMID:18564|PMID:18564801|PMID:1862346|PMID:18719443|PMID:18765655|PMID:18813041|PMID:18945287|PMID:19015156|PMID:19020143|PMID:19027160|PMID:19191329|PMID:19191333|PMID:19223216|PMID:19346234|PMID:19513315|PMID:19541610|PMID:19645060|PMID:19648156|PMID:19658156|PMID:19685112|PMID:19807743|PMID:19825159|PMID:19919814|PMID:19931341|PMID:20080402|PMID:20142353|PMID:20301325|PMID:20439600|PMID:20461000|PMID:2047609|PMID:20566647|PMID:20583297|PMID:20681998|PMID:20839240|PMID:20888934|PMID:20952238|PMID:20981092|PMID:21062345|PMID:21118704|PMID:21156754|PMID:21157159|PMID:21282829|PMID:21455645|PMID:21503806|PMID:21514828|PMID:21674524|PMID:21795085|PMID:21825032|PMID:21878807|PMID:21911697|PMID:21918424|PMID:21965348|PMID:22030266|PMID:22203976|PMID:22415532|PMID:22418739|PMID:22473935|PMID:22526018|PMID:22705209|PMID:22734812|PMID:22851008|PMID:22913516|PMID:22992668|PMID:22995991|PMID:23035052|PMID:23069638|PMID:23127960|PMID:23159934|PMID:23183335|PMID:23204524|PMID:23308296|PMID:23329375|PMID:23394784|PMID:23459219|PMID:23460944|PMID:23476141|PMID:23478172|PMID:23553484|PMID:23553787|PMID:23558838|PMID:23628358|PMID:23736090|PMID:23826317|PMID:23842196|PMID:23919265|PMID:24033266|PMID:24055113|PMID:24088041|PMID:24091937|PMID:24195946|PMID:24215330|PMID:24319099|PMID:24361844|PMID:24433488|PMID:24561095|PMID:24627108|PMID:24950660|PMID:24951453|PMID:24961629|PMID:25084811|PMID:25086907|PMID:25214167|PMID:25256590|PMID:25268394|PMID:25326635|PMID:25428687|PMID:25461839|PMID:25466363|PMID:25476234|PMID:25517095|PMID:25521991|PMID:25525159|PMID:25558065|PMID:25611019|PMID:25614869|PMID:25635128|PMID:25637381|PMID:25658027|PMID:25683120|PMID:25735680|PMID:25741868|PMID:25747005|PMID:25749300|PMID:25957634|PMID:25958340|PMID:25960145|PMID:25985138|PMID:25987458|PMID:25989378|PMID:26019235|PMID:26068069|PMID:26115329|PMID:26332594|PMID:26381711|PMID:26467025|PMID:26565425|PMID:26578207|PMID:26633545|PMID:26951757|PMID:26994242|PMID:27005958|PMID:27058611|PMID:27147545|PMID:27153395|PMID:27159402|PMID:27363342|PMID:27382027|PMID:27431030|PMID:27447704|PMID:27558158|PMID:27586648|PMID:27646467|PMID:27663056|PMID:27831900|PMID:27854218|PMID:27857962|PMID:27918309|PMID:28003660|PMID:28007021|PMID:28063098|PMID:28078069|PMID:28224104|PMID:28259615|PMID:28269792|PMID:28325813|PMID:28326467|PMID:28357410|PMID:28403410|PMID:28492532|PMID:28496993|PMID:28527222|PMID:28687594|PMID:28818389|PMID:29169929|PMID:29172004|PMID:29178655|PMID:29298851|PMID:29344738|PMID:29382405|PMID:29417091|PMID:29576327 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005320 Malignant Fever ISO RGD:1316413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fulminating hyperpyrexia | ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:29608462|PMID:29629541|PMID:29635721|PMID:29792937|PMID:30115273|PMID:30122538|PMID:30155738|PMID:30236257|PMID:30236258|PMID:30291343|PMID:30325262|PMID:30406384|PMID:30499100|PMID:30609409|PMID:30611313|PMID:30724636|PMID:30788618|PMID:30827497|PMID:30842289|PMID:30864471|PMID:30872186|PMID:31016048|PMID:31055738|PMID:31127727|PMID:31130284|PMID:31135626|PMID:31165076|PMID:31206373|PMID:31301762|PMID:31304636|PMID:31321302|PMID:31407473|PMID:31447099|PMID:31517061|PMID:31559918|PMID:31589614|PMID:31680349|PMID:31742715|PMID:31841587|PMID:31903994|PMID:31994743|PMID:32054689|PMID:32098966|PMID:32236737|PMID:32403337|PMID:32528171|PMID:32665702|PMID:32861507|PMID:33146414|PMID:33258288|PMID:33259453|PMID:33333461|PMID:33458582|PMID:33490280|PMID:3356401|PMID:33564012|PMID:33625594|PMID:33646171|PMID:33767344|PMID:34000440|PMID:34008892|PMID:34106991|PMID:34127251|PMID:34316023|PMID:34411415|PMID:34428338|PMID:34440373|PMID:34463354|PMID:34535181|PMID:34625927|PMID:34645488|PMID:34809703|PMID:34904211|PMID:35081925|PMID:35285867|PMID:35428369|PMID:35535697|PMID:35599849|PMID:35627144|PMID:36208971|PMID:36283893|PMID:36628841|PMID:37273706|PMID:37510298|PMID:4149045|PMID:6917943|PMID:7299413|PMID:7511586|PMID:7547049|PMID:7554356|PMID:7586638|PMID:7633940|PMID:7751854|PMID:7762556|PMID:7829078|PMID:7849712|PMID:7881417|PMID:7889656|PMID:8012359|PMID:8220422|PMID:8220423|PMID:8401544|PMID:8592342|PMID:8602662|PMID:8661021|PMID:8825043|PMID:8828983|PMID:9030597|PMID:9066328|PMID:9106529|PMID:9138151|PMID:9199552|PMID:9334205|PMID:9389851|PMID:9450902|PMID:9497245|PMID:9520251|PMID:9536098|PMID:9831351|PMID:9873004 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005532 Muscle Weakness ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005560 Congenital Hip Dislocation ISO RGD:1316413 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital hip dislocation PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:22851008|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171|PMID:33767344|PMID:35428369|PMID:35599849 8711305 Ryr1 ryanodine receptor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia PMID:16835904|PMID:24033266|PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9006956 nephrotoxicity treatment ISO RGD:1586637 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8711305 Ryr1 ryanodine receptor 1 gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:1316413 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts PMID:18813041|PMID:20301325|PMID:21878807|PMID:21918424|PMID:22473935|PMID:22851008|PMID:23329375|PMID:23394784|PMID:24055113|PMID:24195946|PMID:24433488|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27058611|PMID:27147545|PMID:27153395|PMID:28492532|PMID:30155738|PMID:30236257|PMID:30406384|PMID:30842289|PMID:33646171|PMID:33767344|PMID:35428369|PMID:35599849 8711305 Ryr1 ryanodine receptor 1 gene DOID:9007661 Dwarfism ISO RGD:1316413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:19191333|PMID:25741868|PMID:28492532|PMID:32403337|PMID:33333461|PMID:34106991 8711305 Ryr1 ryanodine receptor 1 gene DOID:9007908 Aortic Coarctation ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Aorta coarctation PMID:16835904|PMID:24033266|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1316413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:17033962|PMID:18414213|PMID:20080402|PMID:20583297|PMID:20839240|PMID:21911697|PMID:22473935|PMID:23553787|PMID:23919265|PMID:24033266|PMID:24088041|PMID:24195946|PMID:24951453|PMID:25476234|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25960145|PMID:26332594|PMID:26633545|PMID:27854218|PMID:28492532|PMID:28818389|PMID:30609409|PMID:30611313|PMID:31680349|PMID:33333461 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008675 Dyskinesias ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Involuntary movements PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008914 Lead Poisoning ISO RGD:1316413 D RGD:9068941 20230525 RGD mRNA:decreased expression:peripheral blood mononuclear cell PMID:30661027|REF_RGD_ID:329812013 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008965 Bronchomalacia ISO RGD:1316413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bronchomalacia PMID:16835904|PMID:24033266|PMID:25741868 8711305 Ryr1 ryanodine receptor 1 gene DOID:9008993 Myotonia ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myotonia PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9410 panhypopituitarism ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Panhypopituitarism PMID:25741868|PMID:28492532 8711305 Ryr1 ryanodine receptor 1 gene DOID:9970 obesity ISO RGD:1316413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:1059 intellectual disability ISO RGD:732967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:11372 megacolon ISO RGD:732967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8711416 Ppp1r10 protein phosphatase 1 regulatory subunit 10 gene DOID:630 genetic disease ISO RGD:732967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1345480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1345480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:2746 glycogen storage disease V ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1345480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1345480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1345480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8711447 Rab1b RAB1B, member RAS oncogene family gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1345480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:11172604|REF_RGD_ID:13831357 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:25376607|REF_RGD_ID:13831358 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:3068 glioblastoma ISO RGD:1313737 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain: PMID:12507886|REF_RGD_ID:13831355 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:3068 glioblastoma treatment ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:16244591|REF_RGD_ID:13831352 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:3069 malignant astrocytoma severity ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:23761815|REF_RGD_ID:13831356 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1313737 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas PMID:11875720|REF_RGD_ID:13831350 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:4450 renal cell carcinoma severity ISO RGD:1313737 D RGD:9068941 20200609 RGD PMID:21511296|REF_RGD_ID:13831349 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:630 genetic disease ISO RGD:1313737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1313737 D RGD:9068941 20200609 RGD associated with stomach cancer; PMID:11172604|REF_RGD_ID:13831357 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313737 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:9772287|REF_RGD_ID:13831353 8711469 Adgrb1 adhesion G protein-coupled receptor B1 gene DOID:9256 colorectal cancer ISO RGD:1313737 D RGD:9068941 20200609 RGD mRNA:decreased expression:colorectum PMID:9772287|REF_RGD_ID:13831353 8711509 Syn2 synapsin II gene DOID:0060041 autism spectrum disorder ISO RGD:736268 D RGD:9068941 20220825 MouseDO 8711509 Syn2 synapsin II gene DOID:0080600 COVID-19 ISO RGD:736267 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8711509 Syn2 synapsin II gene DOID:1826 epilepsy ISO RGD:736268 D RGD:9068941 20220825 MouseDO 8711509 Syn2 synapsin II gene DOID:5419 schizophrenia ISO RGD:736267 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 8711509 Syn2 synapsin II gene DOID:5419 schizophrenia susceptibility ISO RGD:736267 D RGD:7240710 20230505 OMIM 8711509 Syn2 synapsin II gene DOID:630 genetic disease ISO RGD:736267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711509 Syn2 synapsin II gene DOID:9002211 Hyperalgesia ISO RGD:736267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18701217 8711525 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:61827 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta, arteries (rat) PMID:11358947|REF_RGD_ID:1627659 8711525 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:3328 temporal lobe epilepsy susceptibility ISO RGD:1607081 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:21333500|REF_RGD_ID:9743959 8711525 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:630 genetic disease ISO RGD:1607081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711525 Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 gene DOID:9002669 Hypoxia ISO RGD:62118 D RGD:9068941 20200609 RGD mRNA:decreased expression:carotid body (mouse) PMID:15890701|REF_RGD_ID:9743958 8711549 Izumo1r IZUMO1 receptor, JUNO gene DOID:1059 intellectual disability ISO RGD:2303851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8711549 Izumo1r IZUMO1 receptor, JUNO gene DOID:630 genetic disease ISO RGD:2303851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711564 Aco2 aconitase 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8711564 Aco2 aconitase 2 gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:733187 D RGD:7240710 20180130 OMIM 8711564 Aco2 aconitase 2 gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:733187 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:17576681|PMID:22405087|PMID:24088041|PMID:25351951|PMID:25741868|PMID:26992325|PMID:28492532|PMID:28545339|PMID:28559085|PMID:29564393|PMID:29577077|PMID:30689204|PMID:31130284|PMID:32214227|PMID:32449285|PMID:32483926|PMID:32519519|PMID:34056600|PMID:9536098 8711564 Aco2 aconitase 2 gene DOID:0080600 COVID-19 ISO RGD:733187 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8711564 Aco2 aconitase 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:733187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8711564 Aco2 aconitase 2 gene DOID:0111442 optic atrophy 9 ISO RGD:733187 D RGD:7240710 20180130 OMIM 8711564 Aco2 aconitase 2 gene DOID:0111442 optic atrophy 9 ISO RGD:733187 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 PMID:25351951|PMID:25741868|PMID:28492532|PMID:30689204|PMID:32449285|PMID:32483926|PMID:32519519|PMID:34056600 8711564 Aco2 aconitase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:733187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8711564 Aco2 aconitase 2 gene DOID:3890 acute intermittent porphyria ISO RGD:733187 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria PMID:25741868 8711564 Aco2 aconitase 2 gene DOID:630 genetic disease ISO RGD:733187 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30689204|PMID:32519519|PMID:34056600|PMID:9536098 8711564 Aco2 aconitase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8711564 Aco2 aconitase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:733187 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868 8711564 Aco2 aconitase 2 gene DOID:8501 fundus dystrophy ISO RGD:733187 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:32483926|PMID:34056600 8711564 Aco2 aconitase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:630 genetic disease ISO RGD:1603985 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711586 Mindy1 MINDY lysine 48 deubiquitinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8711623 Apoa5 apolipoprotein A5 gene DOID:0111123 nephronophthisis 15 ISO RGD:736192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8711623 Apoa5 apolipoprotein A5 gene DOID:0111421 familial apolipoprotein A5 deficiency ISO RGD:736192 D RGD:7240710 20240320 OMIM 8711623 Apoa5 apolipoprotein A5 gene DOID:1059 intellectual disability ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8711623 Apoa5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V ISO RGD:736192 D RGD:7240710 20240320 OMIM 8711623 Apoa5 apolipoprotein A5 gene DOID:1171 hyperlipoproteinemia type V ISO RGD:736192 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia PMID:12417524|PMID:12417525|PMID:16200213|PMID:16806135|PMID:18324930|PMID:19447388|PMID:21993410|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:26046366|PMID:27108409|PMID:27578109|PMID:27678447|PMID:28492532|PMID:28951076|PMID:29954705|PMID:31619059|PMID:31980526|PMID:32041611|PMID:33111339|PMID:33462484|PMID:36325899 8711623 Apoa5 apolipoprotein A5 gene DOID:1172 hyperlipoproteinemia type IV ISO RGD:736192 D RGD:7240710 20240320 OMIM 8711623 Apoa5 apolipoprotein A5 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:25741868 8711623 Apoa5 apolipoprotein A5 gene DOID:1459 hypothyroidism ISO RGD:70903 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15941710|REF_RGD_ID:1601661 8711623 Apoa5 apolipoprotein A5 gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16143024 8711623 Apoa5 apolipoprotein A5 gene DOID:3393 coronary artery disease ISO RGD:736192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 8711623 Apoa5 apolipoprotein A5 gene DOID:3393 coronary artery disease ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1131T>C (human) PMID:15177130|REF_RGD_ID:2313322 8711623 Apoa5 apolipoprotein A5 gene DOID:3393 coronary artery disease no_association ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1131T>C, c.56C>G (human) PMID:15306190|REF_RGD_ID:1578412 8711623 Apoa5 apolipoprotein A5 gene DOID:3526 cerebral infarction ISO RGD:736192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C (human) PMID:19107359|REF_RGD_ID:2313314 8711623 Apoa5 apolipoprotein A5 gene DOID:630 genetic disease ISO RGD:736192 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16806135|PMID:28492532|PMID:30420299|PMID:36978188 8711623 Apoa5 apolipoprotein A5 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:736192 D RGD:7240710 20240320 OMIM 8711623 Apoa5 apolipoprotein A5 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:736192 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia 1 PMID:11588264|PMID:12417524|PMID:12417525|PMID:12915450|PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24387992|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:26046366|PMID:27108409|PMID:28492532|PMID:29954705|PMID:31980526|PMID:32041611|PMID:33462484|PMID:36325899 8711623 Apoa5 apolipoprotein A5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8711623 Apoa5 apolipoprotein A5 gene DOID:9004581 Pediatric Obesity ISO RGD:736192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 8711623 Apoa5 apolipoprotein A5 gene DOID:9006599 Hypertriglyceridemia ISO RGD:736192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:18324930|PMID:19447388|PMID:23151256|PMID:23307945|PMID:24591733|PMID:24793350|PMID:25487149|PMID:25741868|PMID:27108409|PMID:28492532|PMID:32041611 8711623 Apoa5 apolipoprotein A5 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.S19W (human) PMID:18789138|REF_RGD_ID:2313315 8711623 Apoa5 apolipoprotein A5 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human) PMID:18468520|REF_RGD_ID:2313317 8711623 Apoa5 apolipoprotein A5 gene DOID:9007661 Dwarfism ISO RGD:736192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8711623 Apoa5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736192 D RGD:9068941 20200609 RGD PMID:16039297|REF_RGD_ID:2313321 8711623 Apoa5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1131T>C (human) PMID:17548321|REF_RGD_ID:2313318 8711623 Apoa5 apolipoprotein A5 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:736192 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.553G>T (human) PMID:17087641|REF_RGD_ID:2313319 8711623 Apoa5 apolipoprotein A5 gene DOID:9970 obesity ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP: :rs662799 (human) PMID:25606423|REF_RGD_ID:329901774 8711636 Tcte1 t-complex-associated-testis-expressed 1 gene DOID:12336 male infertility ISO RGD:1313959 D RGD:9068941 20220825 MouseDO 8711636 Tcte1 t-complex-associated-testis-expressed 1 gene DOID:630 genetic disease ISO RGD:1604203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711659 Exoc6b exocyst complex component 6B gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1349809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8711659 Exoc6b exocyst complex component 6B gene DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 ISO RGD:1349809 D RGD:7240710 20190515 OMIM 8711659 Exoc6b exocyst complex component 6B gene DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 ISO RGD:1349809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 PMID:25741868|PMID:26669664|PMID:30284759 8711659 Exoc6b exocyst complex component 6B gene DOID:5419 schizophrenia ISO RGD:1349809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8711659 Exoc6b exocyst complex component 6B gene DOID:543 dystonia ISO RGD:1349809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8711659 Exoc6b exocyst complex component 6B gene DOID:630 genetic disease ISO RGD:1349809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8711659 Exoc6b exocyst complex component 6B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8711688 Tbx6 T-box transcription factor 6 gene DOID:0050568 spondylocostal dysostosis ISO RGD:1317068 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Costovertebral segmentation anomalies PMID:25564734|PMID:25741868|PMID:28492532|PMID:30636772|PMID:31015262|PMID:31471994 8711688 Tbx6 T-box transcription factor 6 gene DOID:0060019 coronin-1A deficiency ISO RGD:1317068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8711688 Tbx6 T-box transcription factor 6 gene DOID:0060249 scoliosis ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25564734|PMID:25741868|PMID:28054739|PMID:28492532|PMID:31015262|PMID:31471994 8711688 Tbx6 T-box transcription factor 6 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1317068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8711688 Tbx6 T-box transcription factor 6 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1317068 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8711688 Tbx6 T-box transcription factor 6 gene DOID:0080205 CAKUT ISO RGD:1317068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30578417 8711688 Tbx6 T-box transcription factor 6 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1317068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1317068 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:20503311|PMID:23335591 8711688 Tbx6 T-box transcription factor 6 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1317068 D RGD:7240710 20180130 OMIM 8711688 Tbx6 T-box transcription factor 6 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1317068 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:20503311|PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868|PMID:27861764|PMID:28054739|PMID:28492532|PMID:28990171|PMID:30636772|PMID:31015262|PMID:31471994|PMID:35846898|PMID:36161696 8711688 Tbx6 T-box transcription factor 6 gene DOID:12849 autistic disorder ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8711688 Tbx6 T-box transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8711688 Tbx6 T-box transcription factor 6 gene DOID:630 genetic disease ISO RGD:1317068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28054739|PMID:28492532|PMID:30636772|PMID:31471994 8711688 Tbx6 T-box transcription factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8711688 Tbx6 T-box transcription factor 6 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1317068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8711710 Mypop Myb related transcription factor, partner of profilin gene DOID:630 genetic disease ISO RGD:1606912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711727 Klhl21 kelch like family member 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351698 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8711727 Klhl21 kelch like family member 21 gene DOID:3070 high grade glioma ISO RGD:1351698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8711727 Klhl21 kelch like family member 21 gene DOID:630 genetic disease ISO RGD:1351698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711727 Klhl21 kelch like family member 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8711742 Pltp phospholipid transfer protein gene DOID:0080540 galactosialidosis ISO RGD:1315460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase 8711742 Pltp phospholipid transfer protein gene DOID:10140 dry eye syndrome ISO RGD:1315461 D RGD:9068941 20220825 MouseDO 8711742 Pltp phospholipid transfer protein gene DOID:1936 atherosclerosis ISO RGD:1315460 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery (human) PMID:12835223|REF_RGD_ID:1581039 8711742 Pltp phospholipid transfer protein gene DOID:2234 focal epilepsy ISO RGD:1315460 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8711742 Pltp phospholipid transfer protein gene DOID:630 genetic disease ISO RGD:1315460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8711742 Pltp phospholipid transfer protein gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8711742 Pltp phospholipid transfer protein gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1315460 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:14695459|REF_RGD_ID:1581038 8711742 Pltp phospholipid transfer protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8711742 Pltp phospholipid transfer protein gene DOID:9003370 Dyslipidemias ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952847 8711742 Pltp phospholipid transfer protein gene DOID:9006599 Hypertriglyceridemia ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 8711742 Pltp phospholipid transfer protein gene DOID:9007692 Insulin Resistance ISO RGD:1315460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 8711762 Ttc4 tetratricopeptide repeat domain 4 gene DOID:630 genetic disease ISO RGD:1318353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711780 Grhl1 grainyhead like transcription factor 1 gene DOID:630 genetic disease ISO RGD:1313942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711803 Corin corin, serine peptidase gene DOID:0060224 atrial fibrillation ISO RGD:1343750 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:25741868|PMID:37913506 8711803 Corin corin, serine peptidase gene DOID:10283 prostate cancer ISO RGD:1343750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8711803 Corin corin, serine peptidase gene DOID:10591 pre-eclampsia ISO RGD:1343750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8711803 Corin corin, serine peptidase gene DOID:10763 hypertension ISO RGD:1343750 D RGD:9068941 20200609 RGD PMID:16216958|REF_RGD_ID:1581219 8711803 Corin corin, serine peptidase gene DOID:10763 hypertension ISO RGD:1343750 D RGD:9068941 20200609 RGD DNA:SNPs:associated with increased risk PMID:17485366|REF_RGD_ID:1626338 8711803 Corin corin, serine peptidase gene DOID:6000 congestive heart failure ISO RGD:727887 D RGD:9068941 20200609 RGD mRNA:decreased expression:left atrium, right atrium (rat) PMID:15155264|REF_RGD_ID:1581218 8711803 Corin corin, serine peptidase gene DOID:6000 congestive heart failure ISO RGD:727887 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:15191894|REF_RGD_ID:1581217 8711803 Corin corin, serine peptidase gene DOID:630 genetic disease ISO RGD:1343750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711803 Corin corin, serine peptidase gene DOID:9003936 Cardiomegaly ISO RGD:1343750 D RGD:9068941 20200609 RGD DNA:SNPs:associated with increased risk PMID:17485366|REF_RGD_ID:1626338 8711803 Corin corin, serine peptidase gene DOID:9003936 Cardiomegaly ISO RGD:727887 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:15191894|REF_RGD_ID:1581217 8711803 Corin corin, serine peptidase gene DOID:9007654 FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL ISO RGD:1343750 D RGD:7240710 20240320 OMIM 8711803 Corin corin, serine peptidase gene DOID:9008441 Preeclampsia/Eclampsia 5 ISO RGD:1343750 D RGD:7240710 20180130 OMIM 8711803 Corin corin, serine peptidase gene DOID:9008441 Preeclampsia/Eclampsia 5 ISO RGD:1343750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preeclampsia/eclampsia 5 PMID:22437503|PMID:24828501|PMID:25741868|PMID:28492532 8711829 Crebrf CREB3 regulatory factor gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1603892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8711829 Crebrf CREB3 regulatory factor gene DOID:630 genetic disease ISO RGD:1603892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711829 Crebrf CREB3 regulatory factor gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1603892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:630 genetic disease ISO RGD:1314953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711863 Mgst3 microsomal glutathione S-transferase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1604571 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:1856 cherubism ISO RGD:1604571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:630 genetic disease ISO RGD:1604571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711879 Slc49a3 solute carrier family 49 member 3 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1604571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:0060224 atrial fibrillation ISO RGD:1607063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:0080600 COVID-19 ISO RGD:1607063 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:630 genetic disease ISO RGD:1607063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1607063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8711893 Spats2l spermatogenesis associated serine rich 2 like gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1607063 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:11240 appendiceal neoplasm severity ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:appendix, mucosa (human) PMID:16794389|REF_RGD_ID:9590083 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:1793 pancreatic cancer ISO RGD:737279 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25071868|REF_RGD_ID:9590074 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:630 genetic disease ISO RGD:737279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:687 hepatoblastoma ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:12935928|REF_RGD_ID:9590075 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:9002669 Hypoxia ISO RGD:71094 D RGD:9068941 20200609 RGD protein:decreased dimerization:hippocampus (rat) PMID:24893663|REF_RGD_ID:9590077 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:9004109 Intestinal Carcinoid Tumors ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:intestinal mucosa (human) PMID:16424981|REF_RGD_ID:9590082 8711928 Nap1l1 nucleosome assembly protein 1 like 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737279 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (human) PMID:12384809|REF_RGD_ID:9590076 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1605043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8711974 Wwc2 WW and C2 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712001 Emp3 epithelial membrane protein 3 (MAM blood group) gene DOID:630 genetic disease ISO RGD:731841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712001 Emp3 epithelial membrane protein 3 (MAM blood group) gene DOID:9002304 Prostatic Neoplasms ISO RGD:731841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 8712019 Ift57 intraflagellar transport 57 gene DOID:12858 Huntington's disease ISO RGD:1314280 D RGD:9068941 20200609 RGD protein:altered localization:cilia PMID:25989602|REF_RGD_ID:13432581 8712019 Ift57 intraflagellar transport 57 gene DOID:630 genetic disease ISO RGD:1314279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8712019 Ift57 intraflagellar transport 57 gene DOID:9006510 Orofaciodigital Syndrome XVIII ISO RGD:1314279 D RGD:7240710 20190315 OMIM 8712019 Ift57 intraflagellar transport 57 gene DOID:9006510 Orofaciodigital Syndrome XVIII ISO RGD:1314279 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome 18 PMID:25741868|PMID:27060890|PMID:28492532|PMID:32860008 8712034 Cul5 cullin 5 gene DOID:1059 intellectual disability ISO RGD:733947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8712034 Cul5 cullin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:733947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8712034 Cul5 cullin 5 gene DOID:630 genetic disease ISO RGD:733947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712034 Cul5 cullin 5 gene DOID:9000998 Brain Injuries ISO RGD:621742 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus PMID:17010517|REF_RGD_ID:2301432 8712034 Cul5 cullin 5 gene DOID:9001708 Hemorrhagic Shock ISO RGD:621742 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:12635525|REF_RGD_ID:2301433 8712034 Cul5 cullin 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8712034 Cul5 cullin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:733947 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20949323 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:1316908 D RGD:7240710 20191127 OMIM 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:1316908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 PMID:25741868 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1316908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:5419 schizophrenia ISO RGD:1316908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8712066 Stard7 StAR related lipid transfer domain containing 7 gene DOID:630 genetic disease ISO RGD:1316908 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8712078 Ccm2 CCM2 scaffold protein gene DOID:0060669 cerebral cavernous malformation ISO RGD:1317623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25525273|PMID:25741868|PMID:28492532 8712078 Ccm2 CCM2 scaffold protein gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1317623 D RGD:7240710 20180130 OMIM 8712078 Ccm2 CCM2 scaffold protein gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1317623 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 2 PMID:14624391|PMID:14740320|PMID:15122722|PMID:16199547|PMID:17160895|PMID:17277691|PMID:17576681|PMID:18060436|PMID:18300272|PMID:19088123|PMID:19088124|PMID:19475721|PMID:20419355|PMID:23595507|PMID:24466005|PMID:2468908|PMID:24689081|PMID:25525273|PMID:25741868|PMID:26467025|PMID:27153162|PMID:27561926|PMID:27792856|PMID:28492532|PMID:28655553|PMID:30161288|PMID:31937560|PMID:32860008|PMID:35307828|PMID:9536098 8712078 Ccm2 CCM2 scaffold protein gene DOID:483 cavernous hemangioma ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cavernous hemangioma PMID:25741868 8712078 Ccm2 CCM2 scaffold protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8712078 Ccm2 CCM2 scaffold protein gene DOID:630 genetic disease ISO RGD:1317623 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8712078 Ccm2 CCM2 scaffold protein gene DOID:865 vasculitis ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vasculitis PMID:25741868 8712078 Ccm2 CCM2 scaffold protein gene DOID:8725 vascular dementia ISO RGD:1317623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848|PMID:35307828 8712078 Ccm2 CCM2 scaffold protein gene DOID:9003443 Central Nervous System Vascular Malformations susceptibility ISO RGD:1317623 D RGD:9068941 20200609 RGD DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 PMID:17160895|REF_RGD_ID:1600689 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1318072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:12849 autistic disorder ISO RGD:1318072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:1540 parathyroid carcinoma ISO RGD:1318072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:630 genetic disease ISO RGD:1318072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1318072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8712105 Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8712148 Tmem232 transmembrane protein 232 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:3029048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8712148 Tmem232 transmembrane protein 232 gene DOID:12849 autistic disorder ISO RGD:3029048 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism 8712148 Tmem232 transmembrane protein 232 gene DOID:630 genetic disease ISO RGD:3029048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712148 Tmem232 transmembrane protein 232 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3029048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8712148 Tmem232 transmembrane protein 232 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:3029048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:0060340 ciliopathy ISO RGD:1604747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30395363 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:11193 syndactyly ISO RGD:1604747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30395363 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:1148 polydactyly ISO RGD:1332560 D RGD:9068941 20220825 MouseDO OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:630 genetic disease ISO RGD:1604747 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:9002200 Postaxial Polydactyly, Type A9 ISO RGD:1604747 D RGD:7240710 20190315 OMIM 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:9002200 Postaxial Polydactyly, Type A9 ISO RGD:1604747 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A9 PMID:25741868|PMID:30395363 8712175 Cibar1 CBY1 interacting BAR domain containing 1 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1604747 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly type A PMID:25741868|PMID:30395363 8712208 NSD2 nuclear receptor binding SET domain protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317450 D RGD:9068941 20221117 RGD mRNA:increased expression:lung (human) PMID:34551195|REF_RGD_ID:155663369 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1317450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:11252005|PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:30345613 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:0060058 lymphoma ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:10907 microcephaly ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11514 fissured tongue ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Plicated tongue PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11836 clubfoot ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1588 thrombocytopenia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1657 ventricular septal defect ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:1856 cherubism ISO RGD:1317450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:2355 anemia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319911 D RGD:9068941 20230218 RGD PMID:34551195|REF_RGD_ID:155663369 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:630 genetic disease ISO RGD:1317450 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25188243|PMID:28492532 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9001031 Retrognathia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: retrognathism PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9001308 Wittwer Syndrome ISO RGD:1317450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:11252005|PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:30345613 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intracranial Hemorrhages PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9004360 RAUCH-STEINDL SYNDROME ISO RGD:1317450 D RGD:7240710 20220330 OMIM 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9004360 RAUCH-STEINDL SYNDROME ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rauch-Steindl syndrome PMID:25741868|PMID:28492532|PMID:29760529|PMID:29892088|PMID:31382906|PMID:33276791|PMID:33941880 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317450 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33941880 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9005078 Congenital Macroglossia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Giant tongue PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9005369 Hepatomegaly ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1317450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076604 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9007817 Macroglossia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:25741868 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24874954 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317450 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24076604 8712208 Nsd2 nuclear receptor binding SET domain protein 2 gene DOID:9993 hypoglycemia ISO RGD:1317450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:0080199 colorectal carcinoma ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:12909127|REF_RGD_ID:1600485 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:0080199 colorectal carcinoma ISO RGD:736600 D RGD:9068941 20200609 RGD PMID:12909127|REF_RGD_ID:1600485 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:0080998 acute necrotizing pancreatitis severity ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas, acinar cell PMID:16425382|REF_RGD_ID:1600479 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:1059 intellectual disability ISO RGD:736600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:1380 endometrial cancer ISO RGD:736600 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10637067|REF_RGD_ID:2293548 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:1407 anterior uveitis ISO RGD:2311 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye PMID:16751365|REF_RGD_ID:1600478 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:2394 ovarian cancer ISO RGD:736600 D RGD:9068941 20200609 RGD PMID:15726105|PMID:19254481|REF_RGD_ID:2306066|REF_RGD_ID:2326189 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:2527 nephrosis ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:15843577|REF_RGD_ID:1600482 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:2921 glomerulonephritis ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:7523753|REF_RGD_ID:1600500 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:3459 breast carcinoma disease_progression ISO RGD:736600 D RGD:9068941 20200609 RGD PMID:12898600|REF_RGD_ID:2326192 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:736600 D RGD:9068941 20220303 RGD protein:increased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:557 kidney disease ISO RGD:736600 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31618666 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:5844 myocardial infarction ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:7515561|REF_RGD_ID:1600501 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:630 genetic disease ISO RGD:736600 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:8869 neuromyelitis optica severity ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:28212662|REF_RGD_ID:13792592 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:8947 diabetic retinopathy ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:12453906|REF_RGD_ID:1600487 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2311 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:12483994|REF_RGD_ID:1600486 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9001643 CD59 Deficiency ISO RGD:736600 D RGD:7240710 20180130 OMIM 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9001643 CD59 Deficiency ISO RGD:736600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy PMID:1382994|PMID:23149847|PMID:24382084|PMID:25741868 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9002457 Experimental Arthritis ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:14519760|REF_RGD_ID:1600483 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9004001 Facial Nerve Injuries ISO RGD:2311 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:facial VII nucleus PMID:9846834|REF_RGD_ID:1600495 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:2311 D RGD:9068941 20200609 RGD PMID:10530491|REF_RGD_ID:1600493 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2311 D RGD:9068941 20200609 RGD protein:increased expression:Schwann cell (rat) PMID:10450801|REF_RGD_ID:1600494 8712239 Cd59 CD59 molecule (CD59 blood group) gene DOID:9007472 Skin Manifestations ISO RGD:736600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31618666 8712262 LOC102023128 cytochrome c oxidase assembly protein COX16 homolog, mitochondrial gene DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 ISO RGD:1321882 D RGD:7240710 20210616 OMIM 8712262 LOC102023128 cytochrome c oxidase assembly protein COX16 homolog, mitochondrial gene DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 ISO RGD:1321882 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 22 PMID:33169484 8712262 LOC102023128 cytochrome c oxidase assembly protein COX16 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:1321882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712275 Ehd3 EH domain containing 3 gene DOID:630 genetic disease ISO RGD:1346639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712275 Ehd3 EH domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8712275 Ehd3 EH domain containing 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1346639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8712285 LOC102023845 chromosome unknown open reading frame, human C14orf180 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1603812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8712285 LOC102023845 chromosome unknown open reading frame, human C14orf180 gene DOID:630 genetic disease ISO RGD:1603812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712285 LOC102023845 chromosome unknown open reading frame, human C14orf180 gene DOID:684 hepatocellular carcinoma ISO RGD:1603812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1605621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1605621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1605621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1605621 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Severe progressive deforming recessive osteogenesis imperfecta (type III) PMID:25741868|PMID:32181939|PMID:34204301|PMID:35019224 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:630 genetic disease ISO RGD:1605621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:9001928 osteogenesis imperfecta type 22 ISO RGD:1605621 D RGD:7240710 20220406 OMIM 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:9001928 osteogenesis imperfecta type 22 ISO RGD:1605621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type XXII PMID:25741868|PMID:32181939|PMID:34204301|PMID:35019224 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:9002589 Bone Fractures ISO RGD:1605621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:25741868|PMID:32181939|PMID:34204301|PMID:35019224 8712309 Ccdc134 coiled-coil domain containing 134 gene DOID:9007188 Liver Neoplasms ISO RGD:1605621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:0060476 Perlman syndrome ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 8712326 Psmd1 proteasome 26S subunit, non-ATPase 1 gene DOID:630 genetic disease ISO RGD:734088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712354 Ece2 endothelin converting enzyme 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1349338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8712354 Ece2 endothelin converting enzyme 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1349338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8712354 Ece2 endothelin converting enzyme 2 gene DOID:0111546 Currarino syndrome ISO RGD:1349338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8712354 Ece2 endothelin converting enzyme 2 gene DOID:630 genetic disease ISO RGD:1349338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712395 Fam135a family with sequence similarity 135 member A gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1312650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy 8712395 Fam135a family with sequence similarity 135 member A gene DOID:630 genetic disease ISO RGD:1312650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712441 Kmt5a lysine methyltransferase 5A gene DOID:10283 prostate cancer ISO RGD:1602807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8712441 Kmt5a lysine methyltransferase 5A gene DOID:630 genetic disease ISO RGD:1602807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712453 Prxl2a peroxiredoxin like 2A gene DOID:630 genetic disease ISO RGD:1320148 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712491 Rabac1 Rab acceptor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8712491 Rabac1 Rab acceptor 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8712491 Rabac1 Rab acceptor 1 gene DOID:2340 craniosynostosis ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 8712491 Rabac1 Rab acceptor 1 gene DOID:5419 schizophrenia ISO RGD:736141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8712491 Rabac1 Rab acceptor 1 gene DOID:630 genetic disease ISO RGD:736141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712491 Rabac1 Rab acceptor 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8712491 Rabac1 Rab acceptor 1 gene DOID:9269 maple syrup urine disease ISO RGD:736141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8712514 Fzd2 frizzled class receptor 2 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:25741868|PMID:25759469|PMID:28492532|PMID:29276006|PMID:30455931 8712514 Fzd2 frizzled class receptor 2 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:732091 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:25741868|PMID:25759469|PMID:29276006|PMID:30455931 8712514 Fzd2 frizzled class receptor 2 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:732091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 PMID:29276006 8712514 Fzd2 frizzled class receptor 2 gene DOID:0080600 COVID-19 ISO RGD:732091 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8712514 Fzd2 frizzled class receptor 2 gene DOID:0080845 omodysplasia 2 ISO RGD:732091 D RGD:7240710 20190315 OMIM 8712514 Fzd2 frizzled class receptor 2 gene DOID:0080845 omodysplasia 2 ISO RGD:732091 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant omodysplasia PMID:25741868|PMID:25759469|PMID:30455931 8712514 Fzd2 frizzled class receptor 2 gene DOID:10126 keratoconus ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:28492532 8712514 Fzd2 frizzled class receptor 2 gene DOID:127 leiomyoma ISO RGD:732091 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myometrium PMID:12909487|REF_RGD_ID:2298700 8712514 Fzd2 frizzled class receptor 2 gene DOID:3459 breast carcinoma ISO RGD:732091 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15492823|REF_RGD_ID:2298699 8712514 Fzd2 frizzled class receptor 2 gene DOID:5844 myocardial infarction ISO RGD:71012 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:9142123|REF_RGD_ID:4107058 8712514 Fzd2 frizzled class receptor 2 gene DOID:630 genetic disease ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8712514 Fzd2 frizzled class receptor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 8712514 Fzd2 frizzled class receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:71012 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:8762054|REF_RGD_ID:4107053 8712514 Fzd2 frizzled class receptor 2 gene DOID:9007661 Dwarfism ISO RGD:732091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 8712526 Clptm1l CLPTM1 like gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs402710(human) PMID:28025427|REF_RGD_ID:150530487 8712526 Clptm1l CLPTM1 like gene DOID:0050921 pharynx squamous cell carcinoma sexual_dimorphism ISO RGD:1605932 D RGD:9068941 20211224 RGD in males;DNA:SNP: :rs401681(human) PMID:31429604|REF_RGD_ID:150530637 8712526 Clptm1l CLPTM1 like gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1605932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 8712526 Clptm1l CLPTM1 like gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1605932 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8712526 Clptm1l CLPTM1 like gene DOID:10283 prostate cancer ISO RGD:1605932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8712526 Clptm1l CLPTM1 like gene DOID:1037 lymphoid leukemia ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 8712526 Clptm1l CLPTM1 like gene DOID:11054 urinary bladder cancer ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer ISO RGD:1550157 D RGD:9068941 20211217 RGD PMID:24366883|REF_RGD_ID:150530483 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD PMID:27062701|REF_RGD_ID:150537097 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:1605932 D RGD:9068941 20211224 RGD in males;DNA:SNP: :rs370348(human) PMID:21771723|REF_RGD_ID:150530643 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs:: rs402710,rs451360 (human) PMID:25526467|REF_RGD_ID:150530494 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs::multiple (human) PMID:26852039|REF_RGD_ID:150530484 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP:intron:rs31489(human) PMID:25422207|REF_RGD_ID:150530631 8712526 Clptm1l CLPTM1 like gene DOID:1324 lung cancer susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD associated with smoking; DNA:SNP:intron:rs31489(human) PMID:21622582|REF_RGD_ID:150530642 8712526 Clptm1l CLPTM1 like gene DOID:2513 basal cell carcinoma ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 8712526 Clptm1l CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD mRNA:increased expression:esophagus PMID:25480402|REF_RGD_ID:150530497 8712526 Clptm1l CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:24386361|REF_RGD_ID:150537098 8712526 Clptm1l CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs401681(human) PMID:25007268|REF_RGD_ID:150530488 8712526 Clptm1l CLPTM1 like gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs451360(human) PMID:26716642|REF_RGD_ID:11572962 8712526 Clptm1l CLPTM1 like gene DOID:3907 lung squamous cell carcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD mRNA:increased expression:lung PMID:24366883|REF_RGD_ID:150530483 8712526 Clptm1l CLPTM1 like gene DOID:3907 lung squamous cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP::rs401681(human) PMID:24861918|REF_RGD_ID:150530499 8712526 Clptm1l CLPTM1 like gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP:: rs31490(human) PMID:23908149|REF_RGD_ID:150530498 8712526 Clptm1l CLPTM1 like gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:24386361|REF_RGD_ID:150537098 8712526 Clptm1l CLPTM1 like gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22675468 8712526 Clptm1l CLPTM1 like gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNPs: :rs4975616,rs401681(human) PMID:24679952|REF_RGD_ID:150530644 8712526 Clptm1l CLPTM1 like gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs:: rs401681,rs4975616(human) PMID:24175795|REF_RGD_ID:150530500 8712526 Clptm1l CLPTM1 like gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs31490(human) PMID:27982019|REF_RGD_ID:150530632 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22675468 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD mRNA:increased expression:lung PMID:24366883|REF_RGD_ID:150530483 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1605932 D RGD:9068941 20211217 RGD PMID:24366883|REF_RGD_ID:150530483 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma no_association ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP::rs401681(human) PMID:24861918|REF_RGD_ID:150530499 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP:: rs31490(human) PMID:23908149|REF_RGD_ID:150530498 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP:: rs4975616(human) PMID:19955392|REF_RGD_ID:150530502 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:23738012|PMID:24386361|REF_RGD_ID:150530485|REF_RGD_ID:150537098 8712526 Clptm1l CLPTM1 like gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP::rs77518573(human) PMID:31935503|REF_RGD_ID:150530635 8712526 Clptm1l CLPTM1 like gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP, haplotype: :rs401681(human) PMID:29450669|REF_RGD_ID:150530629 8712526 Clptm1l CLPTM1 like gene DOID:630 genetic disease ISO RGD:1605932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712526 Clptm1l CLPTM1 like gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP: :rs401681(human) PMID:29042796|REF_RGD_ID:150537100 8712526 Clptm1l CLPTM1 like gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNPs::rs401681(human) PMID:25339005|REF_RGD_ID:150530496 8712526 Clptm1l CLPTM1 like gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605932 D RGD:9068941 20211217 RGD associated with esophagus squamous cell carcinoma; mRNA:increased expression:esophagus PMID:25480402|REF_RGD_ID:150530497 8712526 Clptm1l CLPTM1 like gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 8712526 Clptm1l CLPTM1 like gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 8712526 Clptm1l CLPTM1 like gene DOID:9005172 Lung Neoplasms ISO RGD:1605932 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:18978787|PMID:19151717|PMID:23433592|PMID:24366883 8712526 Clptm1l CLPTM1 like gene DOID:9007364 Mouth Neoplasms ISO RGD:1605932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 8712526 Clptm1l CLPTM1 like gene DOID:9261 nasopharynx carcinoma ISO RGD:1605932 D RGD:9068941 20211217 RGD protein:increased expression:nasopharynx PMID:26621837|REF_RGD_ID:11564613 8712526 Clptm1l CLPTM1 like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211217 RGD DNA:SNP: :rs401681(human) PMID:26621837|REF_RGD_ID:11564613 8712526 Clptm1l CLPTM1 like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP:intron:rs31489(human) PMID:26545403|REF_RGD_ID:11556976 8712526 Clptm1l CLPTM1 like gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1605932 D RGD:9068941 20211224 RGD DNA:SNP:intron:rs31489(human) PMID:31270100|REF_RGD_ID:150537099 8712526 Clptm1l CLPTM1 like gene DOID:9675 pulmonary emphysema severity ISO RGD:1605932 D RGD:9068941 20211224 RGD associated with smoking; DNA:SNP:intron:rs31489(human) PMID:21622582|REF_RGD_ID:150530642 8712557 Tube1 tubulin epsilon 1 gene DOID:630 genetic disease ISO RGD:1314442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712598 Lrrc7 leucine rich repeat containing 7 gene DOID:1059 intellectual disability ISO RGD:1349743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8712598 Lrrc7 leucine rich repeat containing 7 gene DOID:630 genetic disease ISO RGD:1349743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712598 Lrrc7 leucine rich repeat containing 7 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8712598 Lrrc7 leucine rich repeat containing 7 gene DOID:9975 cocaine dependence susceptibility ISO RGD:1349743 D RGD:9068941 20231102 RGD DNA:SNP: (rs1938584) (human) PMID:18438686|REF_RGD_ID:401851917 8712636 Krr1 KRR1 small subunit processome component homolog gene DOID:630 genetic disease ISO RGD:1314657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712650 Hmox2 heme oxygenase 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8712650 Hmox2 heme oxygenase 2 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:68991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8712650 Hmox2 heme oxygenase 2 gene DOID:10024 migraine with aura ISO RGD:68991 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 8712650 Hmox2 heme oxygenase 2 gene DOID:1826 epilepsy ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8712650 Hmox2 heme oxygenase 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68991 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8712650 Hmox2 heme oxygenase 2 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:68991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8712650 Hmox2 heme oxygenase 2 gene DOID:630 genetic disease ISO RGD:68991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712650 Hmox2 heme oxygenase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:68991 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16459095 8712674 LOC102012144 cytochrome b5 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736806 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8712674 LOC102012144 cytochrome b5 gene DOID:0112316 methemoglobinemia and ambiguous genitalia ISO RGD:736806 D RGD:7240710 20180130 OMIM 8712674 LOC102012144 cytochrome b5 gene DOID:0112316 methemoglobinemia and ambiguous genitalia ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5 PMID:20080843|PMID:22170710|PMID:25741868|PMID:3951505|PMID:8262522 8712674 LOC102012144 cytochrome b5 gene DOID:10783 methemoglobinemia ISO RGD:736806 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S127P (human) PMID:2107882|REF_RGD_ID:1599659 8712674 LOC102012144 cytochrome b5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8712674 LOC102012144 cytochrome b5 gene DOID:11400 pyelonephritis ISO RGD:620558 D RGD:9068941 20200609 RGD PMID:9848217|REF_RGD_ID:1599663 8712674 LOC102012144 cytochrome b5 gene DOID:289 endometriosis ISO RGD:736806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8712674 LOC102012144 cytochrome b5 gene DOID:630 genetic disease ISO RGD:736806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8712674 LOC102012144 cytochrome b5 gene DOID:6420 pulmonary valve stenosis ISO RGD:736806 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8712674 LOC102012144 cytochrome b5 gene DOID:8445 intestinal volvulus ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8712674 LOC102012144 cytochrome b5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8712674 LOC102012144 cytochrome b5 gene DOID:9005309 Congenital Methemoglobinemia ISO RGD:736806 D RGD:9068941 20200609 RGD DNA:missense, nonsense mutations:splice junction,cds:multiple PMID:18343696|REF_RGD_ID:11352695 8712674 LOC102012144 cytochrome b5 gene DOID:9005309 Congenital Methemoglobinemia ISO RGD:736806 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte membrane: PMID:7451647|REF_RGD_ID:11352693 8712674 LOC102012144 cytochrome b5 gene DOID:9008419 Volvulus Of Midgut ISO RGD:736806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8712674 LOC102012144 cytochrome b5 gene DOID:9637 stomatitis ISO RGD:736806 D RGD:9068941 20200609 RGD PMID:10406239|REF_RGD_ID:11352692 8712674 LOC102012144 cytochrome b5 gene DOID:9970 obesity ISO RGD:736806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8712693 Exoc3l1 exocyst complex component 3 like 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8712693 Exoc3l1 exocyst complex component 3 like 1 gene DOID:630 genetic disease ISO RGD:1605832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1319121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:630 genetic disease ISO RGD:1319121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712714 Scube1 signal peptide, CUB domain and EGF like domain containing 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1319121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8712742 CUNH1orf122 chromosome unknown C1orf122 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8712742 CUNH1orf122 chromosome unknown C1orf122 homolog gene DOID:630 genetic disease ISO RGD:1606463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712742 CUNH1orf122 chromosome unknown C1orf122 homolog gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 PMID:31481669 8712749 Got1l1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1602185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8712749 Got1l1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1602185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8712749 Got1l1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:607 paraplegia ISO RGD:1602185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8712749 Got1l1 glutamic-oxaloacetic transaminase 1 like 1 gene DOID:630 genetic disease ISO RGD:1602185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:0050545 visceral heterotaxy ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:1059 intellectual disability ISO RGD:1344036 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:630 genetic disease ISO RGD:1344036 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:758 situs inversus ISO RGD:1344036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:9003212 Visceral Heterotaxy 6, Autosomal ISO RGD:1344036 D RGD:7240710 20190315 OMIM 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:9003212 Visceral Heterotaxy 6, Autosomal ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal PMID:17576681|PMID:22577226|PMID:25504577|PMID:25741868|PMID:26531781|PMID:28492532|PMID:9536098 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:9565 dextrocardia ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia PMID:26531781 8712765 Cfap53 cilia and flagella associated protein 53 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1344036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 8712782 Senp5 SUMO specific peptidase 5 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1312139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8712782 Senp5 SUMO specific peptidase 5 gene DOID:12849 autistic disorder ISO RGD:1312139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8712782 Senp5 SUMO specific peptidase 5 gene DOID:5419 schizophrenia ISO RGD:1312139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8712782 Senp5 SUMO specific peptidase 5 gene DOID:630 genetic disease ISO RGD:1312139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:1059 intellectual disability ISO RGD:1322495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8712820 Papln papilin, proteoglycan like sulfated glycoprotein gene DOID:630 genetic disease ISO RGD:1322495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1320789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:10283 prostate cancer ISO RGD:1320789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8712852 Adat1 adenosine deaminase tRNA specific 1 gene DOID:630 genetic disease ISO RGD:1320789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712870 Fcrl1 Fc receptor like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8712870 Fcrl1 Fc receptor like 1 gene DOID:630 genetic disease ISO RGD:1602077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712870 Fcrl1 Fc receptor like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:0111922 spermatogenic failure 31 ISO RGD:1345041 D RGD:7240710 20190315 OMIM 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:0111922 spermatogenic failure 31 ISO RGD:1345041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 31 PMID:25741868|PMID:30032984|PMID:30298696 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:12336 male infertility ISO RGD:732904 D RGD:9068941 20220825 MouseDO 8712895 Pmfbp1 polyamine modulated factor 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1345041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712920 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8712920 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:10140 dry eye syndrome ISO RGD:1558296 D RGD:9068941 20220825 MouseDO 8712920 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1606441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8712920 Awat2 acyl-CoA wax alcohol acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1606441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712939 Ssr3 signal sequence receptor subunit 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349375 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:30945312 8712939 Ssr3 signal sequence receptor subunit 3 gene DOID:630 genetic disease ISO RGD:1349375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712953 Lipn lipase family member N gene DOID:0060717 autosomal recessive congenital ichthyosis 8 ISO RGD:1349924 D RGD:7240710 20180130 OMIM 8712953 Lipn lipase family member N gene DOID:0060717 autosomal recessive congenital ichthyosis 8 ISO RGD:1349924 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 PMID:25741868|PMID:28492532 8712953 Lipn lipase family member N gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1349924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 8712953 Lipn lipase family member N gene DOID:630 genetic disease ISO RGD:1349924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712953 Lipn lipase family member N gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1349924 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 8712968 Ube2m ubiquitin conjugating enzyme E2 M gene DOID:630 genetic disease ISO RGD:1316910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1353803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ISO RGD:1353803 D RGD:7240710 20190315 OMIM 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:0112094 nuclear type mitochondrial complex I deficiency 14 ISO RGD:1353803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 PMID:17576681|PMID:18306244|PMID:25741868|PMID:28492532|PMID:32712949|PMID:9536098 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:2033 communication disorder ISO RGD:1353803 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8712981 Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 gene DOID:630 genetic disease ISO RGD:1353803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8712989 Cnrip1 cannabinoid receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1318105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:10763 hypertension ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart myocardium, aorta PMID:16450076|REF_RGD_ID:1625300 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:10763 hypertension ISO RGD:735315 D RGD:9068941 20200609 RGD associated with Pregnancy Complications PMID:11600589|REF_RGD_ID:1642682 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:10763 hypertension susceptibility ISO RGD:735315 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:15797661|REF_RGD_ID:1642679 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17068622|REF_RGD_ID:1642683 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:299 adenocarcinoma ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:557 kidney disease ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10733909|REF_RGD_ID:61729 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:6000 congestive heart failure ISO RGD:61872 D RGD:9068941 20200609 RGD associated with Hypertension PMID:12623952|REF_RGD_ID:704370 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:630 genetic disease ISO RGD:735315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:6432 pulmonary hypertension ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:heart right ventricle PMID:17437045|REF_RGD_ID:1642678 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:672 spleen cancer ameliorates ISO RGD:62164 D RGD:9068941 20220609 RGD PMID:31754214|REF_RGD_ID:152985691 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:735315 D RGD:9068941 20220421 RGD associated with colorectal cancer; protein:increased expression:lymph node (human) PMID:23634287|REF_RGD_ID:151708733 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:62164 D RGD:9068941 20220609 RGD PMID:31754214|REF_RGD_ID:152985691 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61872 D RGD:9068941 20200609 RGD PMID:16713642|REF_RGD_ID:1625319 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:61872 D RGD:9068941 20200609 RGD PMID:15680493|REF_RGD_ID:1642686 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9004657 Weight Gain ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9005172 Lung Neoplasms ISO RGD:735315 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9005587 Starvation ISO RGD:61872 D RGD:9068941 20200609 RGD PMID:17335899|REF_RGD_ID:1625307 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:14717924|REF_RGD_ID:1642701 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:61872 D RGD:9068941 20200609 RGD mRNA:increased expression:ventricle myocardium PMID:16987513|REF_RGD_ID:1642684 8712997 Ramp2 receptor activity modifying protein 2 gene DOID:9256 colorectal cancer ISO RGD:735315 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 8713005 Nmnat3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1319314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8713005 Nmnat3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:1686 glaucoma treatment ISO RGD:1309140 D RGD:9068941 20200609 RGD PMID:24136224|REF_RGD_ID:13782046 8713005 Nmnat3 nicotinamide nucleotide adenylyltransferase 3 gene DOID:630 genetic disease ISO RGD:1319314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713032 Hsd11b1l hydroxysteroid 11-beta dehydrogenase 1 like gene DOID:630 genetic disease ISO RGD:1605800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713038 C2cd4c C2 calcium dependent domain containing 4C gene DOID:630 genetic disease ISO RGD:1351171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713044 Bcas4 breast carcinoma amplified sequence 4 gene DOID:630 genetic disease ISO RGD:1352594 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1351020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351020 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:26506222|PMID:28492532|PMID:31680123 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:1115 sarcoma ISO RGD:1590342 D RGD:9068941 20200609 RGD protein:decreased activity:tumor (rat) PMID:2560335|REF_RGD_ID:5143928 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:630 genetic disease ISO RGD:1351020 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1590342 D RGD:9068941 20200609 RGD protein:increased activity:heart (rat) PMID:3360219|REF_RGD_ID:1598762 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:9006602 Distal Myopathy 5 ISO RGD:1351020 D RGD:7240710 20190315 OMIM 8713054 Adss1 adenylosuccinate synthase 1 gene DOID:9006602 Distal Myopathy 5 ISO RGD:1351020 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ADSS1-related condition | ClinVar Annotator: match by term: Myopathy, distal, 5 PMID:16199547|PMID:25741868|PMID:26506222|PMID:27868399|PMID:28268051|PMID:28492532|PMID:31680123|PMID:32331917 8713073 Zbtb49 zinc finger and BTB domain containing 49 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1315520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8713073 Zbtb49 zinc finger and BTB domain containing 49 gene DOID:630 genetic disease ISO RGD:1315520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713097 CUNH19orf18 chromosome unknown C19orf18 homolog gene DOID:303 substance-related disorder ISO RGD:1342903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8713107 Toe1 target of EGR1, exonuclease gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8713107 Toe1 target of EGR1, exonuclease gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1319240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28092684 8713107 Toe1 target of EGR1, exonuclease gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:1319240 D RGD:7240710 20190315 OMIM 8713107 Toe1 target of EGR1, exonuclease gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 PMID:18271935|PMID:21594990|PMID:25741868|PMID:28092684|PMID:28492532 8713107 Toe1 target of EGR1, exonuclease gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1319240 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:28644590|PMID:36988593|PMID:9536098 8713107 Toe1 target of EGR1, exonuclease gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8713107 Toe1 target of EGR1, exonuclease gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8713107 Toe1 target of EGR1, exonuclease gene DOID:10534 stomach cancer ISO RGD:1319240 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:14618256|PMID:22473953|PMID:25741868|PMID:28492532|PMID:36988593 8713107 Toe1 target of EGR1, exonuclease gene DOID:1520 colon carcinoma ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18271935|PMID:25741868|PMID:28492532 8713107 Toe1 target of EGR1, exonuclease gene DOID:630 genetic disease ISO RGD:1319240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28092684|PMID:28492532|PMID:9536098 8713107 Toe1 target of EGR1, exonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12056405|PMID:14618256|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8713107 Toe1 target of EGR1, exonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319240 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12056405|PMID:14618256|PMID:16199547|PMID:16408224|PMID:17576681|PMID:18271935|PMID:18534194|PMID:19725997|PMID:20663686|PMID:20725929|PMID:22473953|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:28644590|PMID:36988593|PMID:9536098 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1322301 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:23055267|REF_RGD_ID:9590163 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1322301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:607 paraplegia ISO RGD:1322301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:630 genetic disease ISO RGD:1322301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:6846 familial melanoma ISO RGD:1322301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8713124 Mbd6 methyl-CpG binding domain protein 6 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1322301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 8713164 Prss56 serine protease 56 gene DOID:0060476 Perlman syndrome ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8713164 Prss56 serine protease 56 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:5128927 D RGD:7240710 20180130 OMIM 8713164 Prss56 serine protease 56 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:5128927 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC PMID:15823920|PMID:17576681|PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:21850159|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25587058|PMID:25741868|PMID:28492532|PMID:31266062|PMID:31992737|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 8713164 Prss56 serine protease 56 gene DOID:0080634 nanophthalmos ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25741868|PMID:28492532|PMID:31266062|PMID:31992737 8713164 Prss56 serine protease 56 gene DOID:0110991 Joubert syndrome 22 ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8713164 Prss56 serine protease 56 gene DOID:10629 microphthalmia ISO RGD:5128927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532570 8713164 Prss56 serine protease 56 gene DOID:11830 myopia ISO RGD:5128927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 8713164 Prss56 serine protease 56 gene DOID:13550 angle-closure glaucoma ISO RGD:5128927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532570 8713164 Prss56 serine protease 56 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:5128927 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 8713164 Prss56 serine protease 56 gene DOID:630 genetic disease ISO RGD:5128927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8713164 Prss56 serine protease 56 gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:5128927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:19526372|PMID:21532570|PMID:24033266|PMID:28492532 8713181 Mafb MAF bZIP transcription factor B gene DOID:0080395 orofacial cleft 1 ISO RGD:732545 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Orofacial cleft 1 PMID:25741868 8713181 Mafb MAF bZIP transcription factor B gene DOID:0080600 COVID-19 ISO RGD:732545 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8713181 Mafb MAF bZIP transcription factor B gene DOID:0111534 multicentric carpotarsal osteolysis syndrome ISO RGD:732545 D RGD:7240710 20180130 OMIM 8713181 Mafb MAF bZIP transcription factor B gene DOID:0111534 multicentric carpotarsal osteolysis syndrome ISO RGD:732545 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MAFB-related condition | ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy PMID:20436469|PMID:22387013|PMID:24989131|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29120020|PMID:29675035|PMID:30208859|PMID:34722426|PMID:35221875 8713181 Mafb MAF bZIP transcription factor B gene DOID:12557 Duane retraction syndrome ISO RGD:732545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8713181 Mafb MAF bZIP transcription factor B gene DOID:12557 Duane retraction syndrome ISO RGD:732546 D RGD:9068941 20220825 MouseDO OMIM:126800 | OMIM:604356 8713181 Mafb MAF bZIP transcription factor B gene DOID:2234 focal epilepsy ISO RGD:732545 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8713181 Mafb MAF bZIP transcription factor B gene DOID:630 genetic disease ISO RGD:732545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22387013|PMID:24989131|PMID:25741868|PMID:28492532 8713181 Mafb MAF bZIP transcription factor B gene DOID:9004102 Duane Retraction Syndrome 1 ISO RGD:732545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane syndrome type 1 PMID:27181683 8713181 Mafb MAF bZIP transcription factor B gene DOID:9005360 Duane Retraction Syndrome 3 ISO RGD:732545 D RGD:7240710 20200304 OMIM 8713181 Mafb MAF bZIP transcription factor B gene DOID:9005360 Duane Retraction Syndrome 3 ISO RGD:732545 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness PMID:27181683 8713181 Mafb MAF bZIP transcription factor B gene DOID:9296 cleft lip ISO RGD:732545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436469 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1317307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:10283 prostate cancer ISO RGD:1317307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:2043 hepatitis B ISO RGD:1317307 D RGD:9068941 20220317 RGD associated with hepatocellular carcinoma;mRNA:increased expression:liver (human) PMID:25151370|REF_RGD_ID:151665185 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:increased expression:lung (human) PMID:32537022|REF_RGD_ID:151665184 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:increased expression:lung (human) PMID:31711559|REF_RGD_ID:151665187 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:4927 Klatskin's tumor sexual_dimorphism ISO RGD:1317307 D RGD:9068941 20220310 RGD DNA:substitutions, insertion/deletions: (human) PMID:33387086|REF_RGD_ID:126848756 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:4947 cholangiocarcinoma sexual_dimorphism ISO RGD:1317307 D RGD:9068941 20220317 RGD DNA:substitutions, insertion/deletions: (human) PMID:28000796|REF_RGD_ID:151665188 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:630 genetic disease ISO RGD:1317307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:decreased expression:liver (human) PMID:28000796|REF_RGD_ID:151665188 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317307 D RGD:9068941 20220324 RGD mRNA:increased expression:liver (human) PMID:31776854|REF_RGD_ID:151665343 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317307 D RGD:9068941 20220317 RGD mRNA:increased expression:liver (human) PMID:25151370|REF_RGD_ID:151665185 8713191 Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317307 D RGD:9068941 20220317 RGD protein:increased expression:liver (human) PMID:28205209|REF_RGD_ID:151665186 8713235 Nckap1l NCK associated protein 1 like gene DOID:0112015 immunodeficiency 72 ISO RGD:1323803 D RGD:7240710 20200902 OMIM 8713235 Nckap1l NCK associated protein 1 like gene DOID:0112015 immunodeficiency 72 ISO RGD:1323803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 72 with autoinflammation PMID:25741868|PMID:28492532|PMID:32646852|PMID:32647003|PMID:32766723 8713235 Nckap1l NCK associated protein 1 like gene DOID:630 genetic disease ISO RGD:1323803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8713235 Nckap1l NCK associated protein 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8713287 Krt18 keratin 18 gene DOID:0060643 primary sclerosing cholangitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:26195313|REF_RGD_ID:18337492 8713287 Krt18 keratin 18 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:619935 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome; protein:increased expression:liver, serum (rat) PMID:29989845|REF_RGD_ID:26884460 8713287 Krt18 keratin 18 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:30089409|REF_RGD_ID:18337482 8713287 Krt18 keratin 18 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:619935 D RGD:9068941 20200609 RGD protein:increased degradation:serum (rat) PMID:30149902|REF_RGD_ID:18337497 8713287 Krt18 keratin 18 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:30839434|REF_RGD_ID:18337481 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1557581 D RGD:9068941 20220825 MouseDO 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:19333204|REF_RGD_ID:18337493 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis severity ISO RGD:619935 D RGD:9068941 20200609 RGD protein:altered degradation:liver, serum (rat) PMID:24071521|REF_RGD_ID:27226810 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:increased degradation:plasma (human) PMID:18995215|REF_RGD_ID:18337495 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:plasma (human) PMID:19585618|REF_RGD_ID:18337489 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:24630506|REF_RGD_ID:18337490 8713287 Krt18 keratin 18 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21993925|REF_RGD_ID:18337499 8713287 Krt18 keratin 18 gene DOID:12236 primary biliary cholangitis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:26110613|REF_RGD_ID:18337483 8713287 Krt18 keratin 18 gene DOID:3571 liver cancer severity ISO RGD:1557581 D RGD:9068941 20200609 RGD associated with fatty liver disease PMID:27689336|REF_RGD_ID:18337485 8713287 Krt18 keratin 18 gene DOID:409 liver disease severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:17306787|REF_RGD_ID:18337488 8713287 Krt18 keratin 18 gene DOID:5082 liver cirrhosis ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20538000 8713287 Krt18 keratin 18 gene DOID:5082 liver cirrhosis ISO RGD:735767 D RGD:9068941 20200609 RGD protein:H127L PMID:9011570|REF_RGD_ID:1624318 8713287 Krt18 keratin 18 gene DOID:5082 liver cirrhosis severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression: serum (human) PMID:29023872|REF_RGD_ID:18337484 8713287 Krt18 keratin 18 gene DOID:630 genetic disease ISO RGD:735767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713287 Krt18 keratin 18 gene DOID:684 hepatocellular carcinoma ISO RGD:1557581 D RGD:9068941 20220825 MouseDO OMIM:114550 8713287 Krt18 keratin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619935 D RGD:9068941 20200609 RGD protein:increased expression:liver, plasma membrane (rat) PMID:21138630|REF_RGD_ID:27226809 8713287 Krt18 keratin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15999547|PMID:17072980|PMID:18395095|PMID:25380136 8713287 Krt18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:22404726|REF_RGD_ID:18337496 8713287 Krt18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:liver, serum (human) PMID:23820504|REF_RGD_ID:18337500 8713287 Krt18 keratin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:30839434|REF_RGD_ID:18337481 8713287 Krt18 keratin 18 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:19333204|REF_RGD_ID:18337493 8713287 Krt18 keratin 18 gene DOID:9004590 Acute Liver Failure ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20538000 8713287 Krt18 keratin 18 gene DOID:9004590 Acute Liver Failure ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:17847110|REF_RGD_ID:18337491 8713287 Krt18 keratin 18 gene DOID:9005167 Cryptogenic Cirrhosis ISO RGD:735767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cirrhosis, cryptogenic PMID:12724528|PMID:9011570 8713287 Krt18 keratin 18 gene DOID:9005749 Necrosis ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783637 8713287 Krt18 keratin 18 gene DOID:9006550 hepatosplenic schistosomiasis disease_progression ISO RGD:1557581 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse, human) PMID:21357724|REF_RGD_ID:21406434 8713287 Krt18 keratin 18 gene DOID:9006550 hepatosplenic schistosomiasis disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse, human) PMID:21357724|REF_RGD_ID:21406434 8713287 Krt18 keratin 18 gene DOID:9007188 Liver Neoplasms ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19409407|PMID:19796649 8713287 Krt18 keratin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1557581 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (mouse) PMID:17340120|REF_RGD_ID:18337498 8713287 Krt18 keratin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735767 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:19783637|PMID:33483742 8713287 Krt18 keratin 18 gene DOID:9007543 Familial Cirrhosis ISO RGD:735767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to PMID:12724528|PMID:25741868|PMID:9011570 8713287 Krt18 keratin 18 gene DOID:9007543 Familial Cirrhosis susceptibility ISO RGD:735767 D RGD:7240710 20240320 OMIM 8713287 Krt18 keratin 18 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver (human) PMID:20334631|REF_RGD_ID:18337487 8713287 Krt18 keratin 18 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:735767 D RGD:9068941 20200609 RGD protein:increased degradation:serum (human) PMID:28579343|REF_RGD_ID:18337494 8713287 Krt18 keratin 18 gene DOID:9008691 Liver Injury susceptibility ISO RGD:735767 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.D238E, p.D397E (human) PMID:24463813|REF_RGD_ID:18337486 8713287 Krt18 keratin 18 gene DOID:9008939 Breast Neoplasms ISO RGD:735767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061804|PMID:25330770 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:12849 autistic disorder ISO RGD:1345894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1345894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:630 genetic disease ISO RGD:1345894 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1345894 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:25741868 8713303 Map3k15 mitogen-activated protein kinase kinase kinase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:0110253 cataract 14 multiple types ISO RGD:1606676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1606676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:14693 Clouston syndrome ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1606676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 8713347 Eef1akmt1 EEF1A lysine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713356 Unk unk zinc finger gene DOID:630 genetic disease ISO RGD:1319446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713386 Eif3k eukaryotic translation initiation factor 3 subunit K gene DOID:630 genetic disease ISO RGD:1342979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713405 Iqce IQ motif containing E gene DOID:0050581 brachydactyly ISO RGD:1350439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:31549751 8713405 Iqce IQ motif containing E gene DOID:0111957 immunodeficiency 11A ISO RGD:1350439 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 8713405 Iqce IQ motif containing E gene DOID:630 genetic disease ISO RGD:1350439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713405 Iqce IQ motif containing E gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1350439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:25741868|PMID:31549751 8713405 Iqce IQ motif containing E gene DOID:9009200 Postaxial Polydactyly, Type A7 ISO RGD:1350439 D RGD:7240710 20190315 OMIM 8713405 Iqce IQ motif containing E gene DOID:9009200 Postaxial Polydactyly, Type A7 ISO RGD:1350439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 PMID:25741868|PMID:28488682|PMID:31549751 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731256 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:16199547|PMID:18263758|PMID:20301435|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:27159321|PMID:28041799|PMID:28492532|PMID:29632131|PMID:29700822|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0070373 leukoencephalopathy with vanishing white matter 2 ISO RGD:731256 D RGD:7240710 20230505 OMIM 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:0070373 leukoencephalopathy with vanishing white matter 2 ISO RGD:731256 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2 PMID:11704758|PMID:12707859|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:20301435|PMID:21484434|PMID:21560189|PMID:22729508|PMID:25031760|PMID:25741868|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822|PMID:31438897|PMID:33432707 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:1059 intellectual disability ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:10787 premature menopause ISO RGD:731256 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:29706645 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:3883 Lynch syndrome ISO RGD:731256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25741868 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:5426 primary ovarian insufficiency ISO RGD:731256 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:11704758|PMID:15054402|PMID:21560189|PMID:22992991|PMID:28492532|PMID:29706645|PMID:31438897|PMID:34745209 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:630 genetic disease ISO RGD:731256 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14566705|PMID:15776425|PMID:18263758|PMID:21560189|PMID:22128017|PMID:22430157|PMID:24033266|PMID:25741868|PMID:27159321|PMID:28492532|PMID:30266093|PMID:33432707 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002704 Leukoencephalopathies ISO RGD:731256 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:27159321|PMID:28041799|PMID:28492532|PMID:29632131|PMID:29700822|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9002704 Leukoencephalopathies ISO RGD:731256 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:16199547|PMID:18263758|PMID:20301435|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:27159321|PMID:28041799|PMID:28492532|PMID:29632131|PMID:29700822|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042 8713447 Eif2b2 eukaryotic translation initiation factor 2B subunit beta gene DOID:9006534 Nervous System Malformations ISO RGD:731256 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21307862|PMID:21484434|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042 8713459 Rab20 RAB20, member RAS oncogene family gene DOID:0080600 COVID-19 ISO RGD:1315116 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8713459 Rab20 RAB20, member RAS oncogene family gene DOID:2222 factor X deficiency ISO RGD:1315116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8713459 Rab20 RAB20, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1315116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713459 Rab20 RAB20, member RAS oncogene family gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:1826 epilepsy ISO RGD:736177 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8713466 Dmtf1 cyclin D binding myb like transcription factor 1 gene DOID:630 genetic disease ISO RGD:736177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713491 Galnt5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:737016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8713491 Galnt5 polypeptide N-acetylgalactosaminyltransferase 5 gene DOID:630 genetic disease ISO RGD:737016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:12217 Lewy body dementia ISO RGD:735262 D RGD:9068941 20200609 RGD PMID:14991825|REF_RGD_ID:13504666 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:14330 Parkinson's disease ISO RGD:735262 D RGD:9068941 20200609 RGD PMID:14991825|REF_RGD_ID:13504666 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:1790 malignant mesothelioma ISO RGD:735262 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8713505 Gpr37 G protein-coupled receptor 37 gene DOID:630 genetic disease ISO RGD:735262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868|PMID:32585897 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0060232 branchiootic syndrome ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inner ear malformation PMID:29955957 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0060250 idiopathic scoliosis ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:25741868 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0080205 CAKUT ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:29100090|PMID:30143558 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:1351643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome PMID:25741868|PMID:28492532|PMID:32378186 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rokitansky sequence PMID:25741868 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 ISO RGD:1351643 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Klippel-feil deformity, conductive deafness, and absent vagina PMID:25741868 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:1059 intellectual disability ISO RGD:1351643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:14766 renal agenesis ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:1351643 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Renal agenesis and hypodysplasia PMID:28492532|PMID:29100090 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9007661 Dwarfism ISO RGD:1351643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9008687 Autosomal Dominant Nonsyndromic Deafness 80 ISO RGD:1351643 D RGD:7240710 20210505 OMIM 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9008687 Autosomal Dominant Nonsyndromic Deafness 80 ISO RGD:1351643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 80 PMID:25741868|PMID:28492532|PMID:29955957|PMID:32585897 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9009100 Renal Hypodysplasia/Aplasia 3 ISO RGD:1351643 D RGD:7240710 20190315 OMIM 8713511 Greb1l GREB1 like retinoic acid receptor coactivator gene DOID:9009100 Renal Hypodysplasia/Aplasia 3 ISO RGD:1351643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GREB1L-related condition | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 3 PMID:25741868|PMID:28492532|PMID:28739660|PMID:29100090|PMID:29100091|PMID:30143558|PMID:31424080|PMID:32378186|PMID:32585897|PMID:32598191|PMID:33532864|PMID:33548512 8713550 GPX3 glutathione peroxidase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343858 D RGD:9068941 20200609 RGD PMID:18936159|REF_RGD_ID:2312632 8713550 Gpx3 glutathione peroxidase 3 gene DOID:0050731 vitamin B12 deficiency treatment ISO RGD:1343858 D RGD:9068941 20230930 RGD PMID:11115425|REF_RGD_ID:401827848 8713550 Gpx3 glutathione peroxidase 3 gene DOID:0050860 colorectal adenoma ISO RGD:1343858 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 8713550 Gpx3 glutathione peroxidase 3 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1343858 D RGD:9068941 20230928 RGD protein:increased expression:bone marrow PMID:32763516|REF_RGD_ID:401827827 8713550 Gpx3 glutathione peroxidase 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1343858 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 8713550 Gpx3 glutathione peroxidase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8713550 Gpx3 glutathione peroxidase 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma treatment ISO RGD:1343858 D RGD:9068941 20220414 RGD associated with ethmoid sinus cancer and Neoplasm Metastasis PMID:29496492|REF_RGD_ID:151708712 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer ISO RGD:1343858 D RGD:9068941 20220324 RGD protein:decreased expression:stomach (human) PMID:20043075|REF_RGD_ID:151665486 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1343858 D RGD:9068941 20220324 RGD protein:decreased expression:stomach (human) PMID:22843889|REF_RGD_ID:151665483 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer onset ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:30924352|REF_RGD_ID:151665514 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer susceptibility ISO RGD:1343858 D RGD:9068941 20220324 RGD DNA:SNPs:intron 1,3'utr: (rs3805435, rs3828599, rs2070593) (human) PMID:20576521|REF_RGD_ID:151665489 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10534 stomach cancer treatment ISO RGD:1343858 D RGD:9068941 20220331 RGD PMID:30114685|REF_RGD_ID:151665512 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10590 mild pre-eclampsia ISO RGD:1343858 D RGD:9068941 20231005 RGD protein:increased expression:plasma PMID:8476834|REF_RGD_ID:401827852 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10591 pre-eclampsia ISO RGD:1343858 D RGD:9068941 20230928 RGD protein:decreased expression:placenta PMID:20303587|PMID:28705740|REF_RGD_ID:401827170|REF_RGD_ID:401827825 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10591 pre-eclampsia ISO RGD:1343858 D RGD:9068941 20230930 RGD mRNA:decreased expression:placenta PMID:18852388|REF_RGD_ID:401827849 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1062 Fanconi syndrome ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9851889 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10763 hypertension ISO RGD:1343858 D RGD:9068941 20230923 RGD DNA:SNP: :rs3828599 (human) PMID:32034489|REF_RGD_ID:401827127 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10763 hypertension susceptibility ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNP: : rs3828599 (human) PMID:21933611|REF_RGD_ID:401827166 8713550 Gpx3 glutathione peroxidase 3 gene DOID:10763 hypertension treatment ISO RGD:69224 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8713550 Gpx3 glutathione peroxidase 3 gene DOID:11446 sciatic neuropathy treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:28508406|REF_RGD_ID:401827908 8713550 Gpx3 glutathione peroxidase 3 gene DOID:11612 polycystic ovary syndrome treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:35663203|REF_RGD_ID:401827905 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1184 nephrotic syndrome ISO RGD:1343858 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12824952|REF_RGD_ID:1625122 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1184 nephrotic syndrome ISO RGD:1343858 D RGD:9068941 20231005 RGD mRNA:decreased expression:kidney PMID:20685819|REF_RGD_ID:7205671 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1184 nephrotic syndrome ISO RGD:69224 D RGD:9068941 20231005 RGD mRNA:decreased expression:kidney PMID:20685819|REF_RGD_ID:7205671 8713550 Gpx3 glutathione peroxidase 3 gene DOID:11996 spermatic cord torsion treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:24440694|REF_RGD_ID:401827921 8713550 Gpx3 glutathione peroxidase 3 gene DOID:12336 male infertility treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:37260555|REF_RGD_ID:401827915 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1287 cardiovascular system disease ISO RGD:1343858 D RGD:9068941 20230923 RGD associated with atrial fibrillation:protein:decreased expression:serum PMID:27609361|REF_RGD_ID:401827124 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1287 cardiovascular system disease disease_progression ISO RGD:1343858 D RGD:9068941 20230930 RGD associated with Acute Coronary Syndrome;protein:increased expression:plasma PMID:18941641|REF_RGD_ID:401827840 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1287 cardiovascular system disease severity ISO RGD:1343858 D RGD:9068941 20230928 RGD protein:decreased expression:serum PMID:22719980|REF_RGD_ID:401827822 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:1343858 D RGD:9068941 20230923 RGD DNA:SNP: :rs8177409 (human) PMID:24819036|REF_RGD_ID:401827122 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1289 neurodegenerative disease ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 8713550 Gpx3 glutathione peroxidase 3 gene DOID:13129 severe pre-eclampsia ISO RGD:1343858 D RGD:9068941 20231005 RGD protein:increased expression:plasma PMID:8476834|REF_RGD_ID:401827852 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1324 lung cancer treatment ISO RGD:1343858 D RGD:9068941 20220414 RGD PMID:26767034|PMID:33255360|REF_RGD_ID:151708705|REF_RGD_ID:151708707 8713550 Gpx3 glutathione peroxidase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21684681 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1596 depressive disorder treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:33935736|REF_RGD_ID:401827871 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1682 congenital heart disease ISO RGD:1352435,RGD:732257 D RGD:9068941 20230928 RGD DNA:SNP: :rs8177441 (human) PMID:26612412|REF_RGD_ID:11097065 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1936 atherosclerosis treatment ISO RGD:69224 D RGD:9068941 20230928 RGD PMID:21300352|REF_RGD_ID:401827830 8713550 Gpx3 glutathione peroxidase 3 gene DOID:1993 rectum cancer susceptibility ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:SNPs: (rs3828599, rs736775, rs8177447) (human) PMID:22371331|REF_RGD_ID:151665750 8713550 Gpx3 glutathione peroxidase 3 gene DOID:219 colon cancer disease_progression ISO RGD:737382 D RGD:9068941 20220331 RGD associated with Experimental Colitis PMID:23221387|REF_RGD_ID:151665510 8713550 Gpx3 glutathione peroxidase 3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1343858 D RGD:9068941 20230928 RGD PMID:30098076|REF_RGD_ID:401827833 8713550 Gpx3 glutathione peroxidase 3 gene DOID:2316 brain ischemia ISO RGD:14121452 D RGD:9068941 20230928 RGD protein:increased expression:plasma PMID:30025402|REF_RGD_ID:401827828 8713550 Gpx3 glutathione peroxidase 3 gene DOID:2870 endometrial adenocarcinoma ISO RGD:69224 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium (rat) PMID:19426485|REF_RGD_ID:2312621 8713550 Gpx3 glutathione peroxidase 3 gene DOID:289 endometriosis ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 8713550 Gpx3 glutathione peroxidase 3 gene DOID:299 adenocarcinoma ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3021 acute kidney failure ISO RGD:1343858 D RGD:9068941 20230923 RGD protein:decreased expression:kidney PMID:36583727|REF_RGD_ID:401827125 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3393 coronary artery disease ISO RGD:1343858 D RGD:9068941 20230928 RGD mRNA:increased expression:epicardial fat PMID:21679057|REF_RGD_ID:401827169 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3526 cerebral infarction ISO RGD:1343858 D RGD:9068941 20230923 RGD DNA, protein:SNP,decreased expression:promoter,plasma:-861A>T (human) PMID:25126700|REF_RGD_ID:401827128 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3526 cerebral infarction ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human) PMID:17122425|REF_RGD_ID:401827163 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3526 cerebral infarction susceptibility ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNPs, haplotypes:promoter:rs8177412, rs870407, rs870406 (human) PMID:20946167|REF_RGD_ID:401827165 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3565 meningioma severity ISO RGD:1343858 D RGD:9068941 20230928 RGD PMID:19885562|REF_RGD_ID:401827824 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3572 intracranial sinus thrombosis no_association ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNPs, haplotypes:promoter:rs8177412, rs870407, rs870406 (human) PMID:20946167|REF_RGD_ID:401827165 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25050929|PMID:30018730|REF_RGD_ID:151665494|REF_RGD_ID:151665741 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3905 lung carcinoma ISO RGD:737382 D RGD:9068941 20230928 RGD protein decreased expression:heart PMID:33693448|REF_RGD_ID:401827836 8713550 Gpx3 glutathione peroxidase 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1343858 D RGD:9068941 20220414 RGD mRNA:decreased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 8713550 Gpx3 glutathione peroxidase 3 gene DOID:418 systemic scleroderma ISO RGD:1343858 D RGD:9068941 20230923 RGD protein:decreased expression:serum PMID:32630589|REF_RGD_ID:401827129 8713550 Gpx3 glutathione peroxidase 3 gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:1343858 D RGD:9068941 20220630 RGD DNA:SNPs:intron: (rs4958872, rs3792797) (human) PMID:22715394|REF_RGD_ID:152995500 8713550 Gpx3 glutathione peroxidase 3 gene DOID:4948 gallbladder carcinoma severity ISO RGD:1343858 D RGD:9068941 20220331 RGD protein:decreased expression:gallbladder (human) PMID:24167362|REF_RGD_ID:151665515 8713550 Gpx3 glutathione peroxidase 3 gene DOID:5041 esophageal cancer treatment ISO RGD:1343858 D RGD:9068941 20220407 RGD DNA:hypermethylation PMID:33292587|REF_RGD_ID:151665781 8713550 Gpx3 glutathione peroxidase 3 gene DOID:62 aortic valve disease ISO RGD:1343858 D RGD:9068941 20230928 RGD mRNA:decreased expression:aortic valve PMID:32674273|REF_RGD_ID:401827829 8713550 Gpx3 glutathione peroxidase 3 gene DOID:630 genetic disease ISO RGD:1343858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713550 Gpx3 glutathione peroxidase 3 gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:1343858 D RGD:9068941 20230928 RGD associated with Endotoxemia; protein:decreased expression:serum PMID:34869693|REF_RGD_ID:401827160 8713550 Gpx3 glutathione peroxidase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343858 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25445749|REF_RGD_ID:151665509 8713550 Gpx3 glutathione peroxidase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343858 D RGD:9068941 20231005 RGD PMID:27570561|REF_RGD_ID:401827855 8713550 Gpx3 glutathione peroxidase 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1343858 D RGD:9068941 20220324 RGD mRNA,protein:decreased expression:liver, blood plasma (human) PMID:25333265|REF_RGD_ID:151665355 8713550 Gpx3 glutathione peroxidase 3 gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:737382 D RGD:9068941 20230928 RGD PMID:21530968|PMID:24337353|REF_RGD_ID:401827823|REF_RGD_ID:401827834 8713550 Gpx3 glutathione peroxidase 3 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1343858 D RGD:9068941 20220324 RGD DNA:hypermethylation PMID:16229808|REF_RGD_ID:151665354 8713550 Gpx3 glutathione peroxidase 3 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1343858 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 8713550 Gpx3 glutathione peroxidase 3 gene DOID:850 lung disease ISO RGD:69224 D RGD:9068941 20200609 RGD mRNA:decreased expression:pneumocyte (rat) PMID:16049373|REF_RGD_ID:2312626 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69224 D RGD:9068941 20231005 RGD protein:increased expression:cerebrospinal fluid PMID:21559420|REF_RGD_ID:40907059 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1343858 D RGD:9068941 20220324 RGD associated with stomach carcinoma; DNA:hypermethylation:promoter PMID:23071548|REF_RGD_ID:151665353 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9000111 Radiation Injuries treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:20105084|REF_RGD_ID:401827914 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1343858 D RGD:9068941 20230930 RGD protein:increased expression:plasma PMID:32326289|REF_RGD_ID:401827845 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9001211 cerebral venous thrombosis ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human) PMID:18096833|REF_RGD_ID:401827161 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9001211 cerebral venous thrombosis no_association ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNPs, haplotype:promoter:-942 A>C, -927 T>C, -861 A>T, -302 A>T, -284 T>A, -568 T>C, -518 T>C, -65 T>C (human) PMID:19095977|REF_RGD_ID:401827164 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:1343858 D RGD:9068941 20231005 RGD protein:increased expression:plasma PMID:8244188|REF_RGD_ID:401827853 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1343858 D RGD:9068941 20230928 RGD mRNA, protein:increased expression:blood, plasma PMID:28298473|REF_RGD_ID:401827171 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1343858 D RGD:9068941 20230923 RGD associated with systemic scleroderma;protein:decreased expression:serum PMID:32630589|REF_RGD_ID:401827129 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1343858 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:serum (human) PMID:17269729|REF_RGD_ID:2312635 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69224 D RGD:9068941 20231005 RGD associated with Experimental Diabetes Mellitus PMID:32592386|REF_RGD_ID:401827869 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804715 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9002669 Hypoxia ISO RGD:69224 D RGD:9068941 20231005 RGD protein:increased expression:plasma PMID:24842778|REF_RGD_ID:401827909 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:22320401|REF_RGD_ID:7175513 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:69224 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9003709 Mercury Poisoning ISO RGD:69224 D RGD:9068941 20231005 RGD protein:decreased activity:plasma PMID:25975991|REF_RGD_ID:401827854 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9003817 Sudden Hearing Loss ISO RGD:1343858 D RGD:9068941 20230923 RGD DNA:SNP: :rs3805435 (human) PMID:28738977|REF_RGD_ID:401827121 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9003936 Cardiomegaly treatment ISO RGD:69224 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9004786 Carbon Tetrachloride Poisoning treatment ISO RGD:69224 D RGD:9068941 20231007 RGD PMID:18306454|PMID:31018559|REF_RGD_ID:2312624|REF_RGD_ID:401827907 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532|PMID:21552421 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69224 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:kidney (rat) PMID:12753302|REF_RGD_ID:2312629 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:23407453|PMID:32546886|REF_RGD_ID:401827857|REF_RGD_ID:401827917 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:737382 D RGD:9068941 20230923 RGD PMID:16651743|REF_RGD_ID:2312631 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9005775 Perinatal Asphyxia severity ISO RGD:1343858 D RGD:9068941 20230930 RGD protein:increased expression:plasma PMID:18279752|REF_RGD_ID:401827841 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69224 D RGD:9068941 20230928 RGD protein:decreased expression:kidney PMID:37033969|REF_RGD_ID:401827821 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69224 D RGD:9068941 20231005 RGD mRNA:decreased expression:kidney PMID:22442209|REF_RGD_ID:401827906 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006302 Binge Drinking ISO RGD:69224 D RGD:9068941 20231005 RGD protein:decreased expression:serum PMID:25864381|REF_RGD_ID:401827870 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006332 Vascular Calcification treatment ISO RGD:69224 D RGD:9068941 20231005 RGD associated with obesity PMID:24370590|REF_RGD_ID:401827910 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1343858 D RGD:9068941 20230928 RGD associated with coronary artery disease;DNA:SNP: :rs3828599 (human) PMID:31396447|REF_RGD_ID:401827159 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:1343858 D RGD:9068941 20230923 RGD protein:increased expression:serum PMID:24819036|REF_RGD_ID:401827122 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:1343858 D RGD:9068941 20230923 RGD PMID:29290803|REF_RGD_ID:401827126 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1343858 D RGD:9068941 20230923 RGD associated with type 2 diabetes mellitus PMID:32862561|REF_RGD_ID:401827123 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9006956 nephrotoxicity treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:22115772|PMID:23662110|PMID:27412471|REF_RGD_ID:401827919|REF_RGD_ID:401827924|REF_RGD_ID:401827925 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9007096 Stroke ISO RGD:1343858 D RGD:9068941 20230928 RGD protein:decreased expression:plasma PMID:10446087|REF_RGD_ID:401827831 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9007692 Insulin Resistance ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9007692 Insulin Resistance ISO RGD:69224 D RGD:9068941 20231005 RGD protein:increased expression:plasma PMID:24361363|REF_RGD_ID:401827920 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1343858 D RGD:9068941 20230930 RGD PMID:11043918|REF_RGD_ID:401827843 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9008652 Postoperative Atrial Fibrillation ISO RGD:1343858 D RGD:9068941 20230928 RGD associated with coronary artery disease;protein:increased expression:plasma PMID:32197906|REF_RGD_ID:401827167 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9206 Barrett's esophagus ISO RGD:1343858 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9351 diabetes mellitus ISO RGD:737382 D RGD:9068941 20200609 RGD PMID:18562625|REF_RGD_ID:2312633 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9351 diabetes mellitus ISO RGD:737382 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle (mouse) PMID:18936159|REF_RGD_ID:2312632 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1343858 D RGD:9068941 20230930 RGD PMID:24102912|REF_RGD_ID:401827847 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9408 acute myocardial infarction ISO RGD:1343858 D RGD:9068941 20230928 RGD protein:increased expression:plasma PMID:28374671|REF_RGD_ID:401827832 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9538 multiple myeloma disease_progression ISO RGD:1343858 D RGD:9068941 20230928 RGD DNA:hypermethylation: : PMID:23699600|REF_RGD_ID:11073605 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343858 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:16489975|REF_RGD_ID:2312634 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:1343858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328671|PMID:19270708 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:69224 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue (rat) PMID:19212806|REF_RGD_ID:2307430 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:69224 D RGD:9068941 20231005 RGD mRNA:decreased expression:embryo, blastocyst PMID:21862610|REF_RGD_ID:5683906 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:69224 D RGD:9068941 20231005 RGD protein:decreased expression:plasma PMID:21535898|REF_RGD_ID:401827923 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity ISO RGD:737382 D RGD:9068941 20200609 RGD protein:decreased expression, activity:plasma (mouse) PMID:18562625|REF_RGD_ID:2312633 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9970 obesity treatment ISO RGD:69224 D RGD:9068941 20231005 RGD PMID:31791316|REF_RGD_ID:401827913 8713550 Gpx3 glutathione peroxidase 3 gene DOID:9993 hypoglycemia ISO RGD:737382 D RGD:9068941 20230923 RGD mRNA:increased expression:retina PMID:21738719|REF_RGD_ID:401827130 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0060017 CD3epsilon deficiency ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:2293598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0080690 RASopathy ISO RGD:2293598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0081330 glycogen storage disease Ib ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0110651 long QT syndrome 10 ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0111971 immunodeficiency 18 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0111972 immunodeficiency 19 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:0111973 immunodeficiency 17 ISO RGD:2293598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:630 genetic disease ISO RGD:2293598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:684 hepatocellular carcinoma ISO RGD:2293598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2293598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8713559 Ttc36 tetratricopeptide repeat domain 36 gene DOID:9007661 Dwarfism ISO RGD:2293598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8713571 Filip1l filamin A interacting protein 1 like gene DOID:630 genetic disease ISO RGD:1604834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713593 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322089 D RGD:9068941 20220825 MouseDO 8713593 Cmas cytidine monophosphate N-acetylneuraminic acid synthetase gene DOID:630 genetic disease ISO RGD:1322088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:630 genetic disease ISO RGD:1313990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713605 Ebna1bp2 EBNA1 binding protein 2 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:1313990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 8713618 Mtfr1 mitochondrial fission regulator 1 gene DOID:630 genetic disease ISO RGD:1605712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713631 Tspan15 tetraspanin 15 gene DOID:630 genetic disease ISO RGD:1351907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713648 Plk1 polo like kinase 1 gene DOID:0080600 COVID-19 ISO RGD:1353801 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8713648 Plk1 polo like kinase 1 gene DOID:10286 prostate carcinoma ISO RGD:1353801 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:15948124|REF_RGD_ID:2299939 8713648 Plk1 polo like kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1353801 D RGD:9068941 20200609 RGD PMID:15761500|REF_RGD_ID:2299940 8713648 Plk1 polo like kinase 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:1353801 D RGD:9068941 20200609 RGD PMID:16837776|REF_RGD_ID:2299938 8713648 Plk1 polo like kinase 1 gene DOID:1240 leukemia ISO RGD:1353801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26008977 8713648 Plk1 polo like kinase 1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1353801 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:14970859|REF_RGD_ID:2299941 8713648 Plk1 polo like kinase 1 gene DOID:289 endometriosis ISO RGD:1353801 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:18353325|REF_RGD_ID:2299937 8713648 Plk1 polo like kinase 1 gene DOID:3070 high grade glioma ISO RGD:1353801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000864 8713648 Plk1 polo like kinase 1 gene DOID:3459 breast carcinoma severity ISO RGD:1353801 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15785925|REF_RGD_ID:2299942 8713648 Plk1 polo like kinase 1 gene DOID:630 genetic disease ISO RGD:1353801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713648 Plk1 polo like kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8713648 Plk1 polo like kinase 1 gene DOID:9007479 Habitual Abortions ISO RGD:1353801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 8713666 Gjb7 gap junction protein beta 7 gene DOID:630 genetic disease ISO RGD:1346461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:1350631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 1 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1350631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:12849 autistic disorder ISO RGD:1350631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8713676 Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 gene DOID:630 genetic disease ISO RGD:1350631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1318264 D RGD:9068941 20220825 MouseDO OMIM:614286 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:0080600 COVID-19 ISO RGD:1318263 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:2234 focal epilepsy ISO RGD:1318263 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:630 genetic disease ISO RGD:1318263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1318263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8713691 Mybl2 MYB proto-oncogene like 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1318264 D RGD:9068941 20220825 MouseDO OMIM:601626 8713732 Calu calumenin gene DOID:0060224 atrial fibrillation ISO RGD:733017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8713732 Calu calumenin gene DOID:0080199 colorectal carcinoma ISO RGD:733017 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (human) PMID:18776587|REF_RGD_ID:2316232 8713732 Calu calumenin gene DOID:13207 proliferative diabetic retinopathy ISO RGD:733017 D RGD:9068941 20231102 RGD mRNA:increased expression:retina (human) PMID:35692390|REF_RGD_ID:401851065 8713732 Calu calumenin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8713732 Calu calumenin gene DOID:630 genetic disease ISO RGD:733017 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8713732 Calu calumenin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 8713732 Calu calumenin gene DOID:9008582 Developmental Disease ISO RGD:733017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:1793 pancreatic cancer ISO RGD:1322154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 8713747 Clptm1 CLPTM1 regulator of GABA type A receptor forward trafficking gene DOID:630 genetic disease ISO RGD:1322154 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1313107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:1313107 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: COL10A1-related condition | ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE PMID:10721676|PMID:10991694|PMID:11805116|PMID:12554676|PMID:12584438|PMID:15695517|PMID:15880705|PMID:16088909|PMID:17403716|PMID:20872587|PMID:21447328|PMID:25741868|PMID:28492532|PMID:29234170|PMID:30202406|PMID:30408610|PMID:33764685|PMID:34423584|PMID:36400164|PMID:7607655|PMID:7749409|PMID:7936797|PMID:8004099|PMID:8012364|PMID:8220429|PMID:8304336|PMID:8554571|PMID:8782043|PMID:8986632|PMID:9067753|PMID:9525992|PMID:9708440|PMID:9837818|PMID:9852679|PMID:9920912 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1313107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:1909 melanoma ISO RGD:1313107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313107 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29675035 8713765 Nt5dc1 5'-nucleotidase domain containing 1 gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:1313107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868|PMID:28492532 8713781 Irx3 iroquois homeobox 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1316613 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17558409|PMID:28492532 8713781 Irx3 iroquois homeobox 3 gene DOID:630 genetic disease ISO RGD:1316613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713781 Irx3 iroquois homeobox 3 gene DOID:850 lung disease ISO RGD:1316613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 8713802 Prdx1 peroxiredoxin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8713802 Prdx1 peroxiredoxin 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733744 D RGD:7240710 20190315 OMIM 8713802 Prdx1 peroxiredoxin 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733744 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:17576681|PMID:25741868|PMID:28492532|PMID:29302025|PMID:32099815|PMID:34215320|PMID:35190856|PMID:9536098 8713802 Prdx1 peroxiredoxin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8713802 Prdx1 peroxiredoxin 1 gene DOID:0080600 COVID-19 ISO RGD:733744 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8713802 Prdx1 peroxiredoxin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:733744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8713802 Prdx1 peroxiredoxin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8713802 Prdx1 peroxiredoxin 1 gene DOID:10320 asbestosis ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 8713802 Prdx1 peroxiredoxin 1 gene DOID:1395 schistosomiasis ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19041905 8713802 Prdx1 peroxiredoxin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8713802 Prdx1 peroxiredoxin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 8713802 Prdx1 peroxiredoxin 1 gene DOID:630 genetic disease ISO RGD:733744 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8713802 Prdx1 peroxiredoxin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517622 8713802 Prdx1 peroxiredoxin 1 gene DOID:9000058 Keloid ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8713802 Prdx1 peroxiredoxin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8713802 Prdx1 peroxiredoxin 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517622 8713802 Prdx1 peroxiredoxin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 8713810 Dcx doublecortin gene DOID:0050453 lissencephaly ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:10369164|PMID:11175293|PMID:18414213|PMID:23365099|PMID:25741868|PMID:28492532|PMID:29671837 8713810 Dcx doublecortin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8713810 Dcx doublecortin gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 8713810 Dcx doublecortin gene DOID:0111169 subcortical band heterotopia ISO RGD:1348637 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10915612|PMID:25140959|PMID:25741868|PMID:28953922 8713810 Dcx doublecortin gene DOID:0112237 lissencephaly 1 ISO RGD:1348637 D RGD:8554872 20230905 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10915612|PMID:25140959|PMID:25741868|PMID:28953922 8713810 Dcx doublecortin gene DOID:0112239 X-linked lissencephaly 1 ISO RGD:1348637 D RGD:7240710 20210331 OMIM 8713810 Dcx doublecortin gene DOID:0112239 X-linked lissencephaly 1 ISO RGD:1348637 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation PMID:10369164|PMID:10749977|PMID:11071144|PMID:11175293|PMID:11331616|PMID:11468322|PMID:12552055|PMID:12838518|PMID:17111359|PMID:18414213|PMID:18685874|PMID:22857951|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25868952|PMID:28492532|PMID:29671837|PMID:29706646|PMID:30979500|PMID:31069529|PMID:32238909|PMID:32570172|PMID:34145886|PMID:35213059|PMID:9489699|PMID:9489700|PMID:9618162 8713810 Dcx doublecortin gene DOID:11832 visual epilepsy ISO RGD:731627 D RGD:9068941 20200609 RGD PMID:18575605|REF_RGD_ID:12904723 8713810 Dcx doublecortin gene DOID:11832 visual epilepsy onset ISO RGD:620670 D RGD:9068941 20200609 RGD associated with Subcortical Band Heterotopia, X-Linked PMID:20164125|REF_RGD_ID:12904732 8713810 Dcx doublecortin gene DOID:12849 autistic disorder ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8713810 Dcx doublecortin gene DOID:14500 fucosidosis ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fucosidosis PMID:25741868 8713810 Dcx doublecortin gene DOID:1459 hypothyroidism ISO RGD:620670 D RGD:9068941 20200609 RGD protein:altered expression:cerebellum PMID:22595232|REF_RGD_ID:12904757 8713810 Dcx doublecortin gene DOID:1574 alcohol use disorder ISO RGD:620670 D RGD:9068941 20231221 RGD mRNA:decreased expression:hippocampus (rat) PMID:30277635|REF_RGD_ID:401938665 8713810 Dcx doublecortin gene DOID:1826 epilepsy ISO RGD:1348637 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:17111359|PMID:18414213|PMID:25326635|PMID:25741868 8713810 Dcx doublecortin gene DOID:3070 high grade glioma ISO RGD:731627 D RGD:9068941 20200609 RGD PMID:17178868|REF_RGD_ID:12904748 8713810 Dcx doublecortin gene DOID:3070 high grade glioma disease_progression ISO RGD:1348637 D RGD:9068941 20200609 RGD PMID:21477071|REF_RGD_ID:12904761 8713810 Dcx doublecortin gene DOID:3070 high grade glioma treatment ISO RGD:731627 D RGD:9068941 20200609 RGD PMID:19681167|REF_RGD_ID:12904754 8713810 Dcx doublecortin gene DOID:3328 temporal lobe epilepsy ISO RGD:1348637 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:20888264|REF_RGD_ID:12904713 8713810 Dcx doublecortin gene DOID:3454 brain infarction ISO RGD:620670 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 8713810 Dcx doublecortin gene DOID:5419 schizophrenia ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8713810 Dcx doublecortin gene DOID:630 genetic disease ISO RGD:1348637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369164|PMID:11071144|PMID:11175293|PMID:11468322|PMID:12552055|PMID:14550532|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25741868|PMID:25868952|PMID:26467025|PMID:28492532|PMID:32238909|PMID:35213059|PMID:9618162 8713810 Dcx doublecortin gene DOID:9000660 Choristoma ISO RGD:1348637 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ectopic tissue PMID:10369164|PMID:10807542|PMID:11175293|PMID:11468322|PMID:12552055|PMID:12838518|PMID:14550532|PMID:17111359|PMID:17576681|PMID:18414213|PMID:18685874|PMID:19416314|PMID:23365099|PMID:25326635|PMID:25741868|PMID:25817838|PMID:25868952|PMID:28492532|PMID:28953922|PMID:29671837|PMID:30979500|PMID:31069529|PMID:31481326|PMID:32570172|PMID:34145886|PMID:35213059|PMID:9489699|PMID:9489700|PMID:9536098|PMID:9618162|PMID:9668176|PMID:9989615 8713810 Dcx doublecortin gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1348637 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:11175293|PMID:11468322|PMID:18414213|PMID:18685874|PMID:23365099|PMID:25741868|PMID:28492532|PMID:35213059 8713810 Dcx doublecortin gene DOID:9001379 Lissencephaly and Agenesis of Corpus Callosum ISO RGD:1348637 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked PMID:10441340|PMID:10749977|PMID:11175293|PMID:11331616|PMID:11468322|PMID:12552055|PMID:18414213|PMID:18685874|PMID:22857951|PMID:23365099|PMID:25741868|PMID:28492532|PMID:35213059|PMID:9489699|PMID:9489700 8713810 Dcx doublecortin gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620670 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:24144742|REF_RGD_ID:12904766 8713810 Dcx doublecortin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348637 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:18414213|PMID:25741868|PMID:9489700 8713810 Dcx doublecortin gene DOID:9005501 Abnormal Cortical Gyration ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal cortical gyration PMID:18414213 8713810 Dcx doublecortin gene DOID:9006534 Nervous System Malformations ISO RGD:1348637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8713810 Dcx doublecortin gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1348637 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Lissencephaly, X-linked PMID:11175293|PMID:11468322|PMID:18414213|PMID:18685874|PMID:23365099|PMID:25741868|PMID:28492532|PMID:35213059 8713810 Dcx doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:1348637 D RGD:9068941 20200609 RGD DNA:deletions PMID:19050731|REF_RGD_ID:12904718 8713810 Dcx doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:1348637 D RGD:9068941 20200609 RGD DNA:nonsense mutation: :p.R186C (971C>T) (human) PMID:9618162|REF_RGD_ID:12904762 8713810 Dcx doublecortin gene DOID:9008552 Subcortical Band Heterotopia, X-Linked ISO RGD:620670 D RGD:9068941 20200609 RGD PMID:19098909|REF_RGD_ID:12904725 8713810 Dcx doublecortin gene DOID:9352 type 2 diabetes mellitus ISO RGD:620670 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus PMID:18982449|REF_RGD_ID:12904763 8713835 Mamstr MEF2 activating motif and SAP domain containing transcriptional regulator gene DOID:630 genetic disease ISO RGD:1604486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1346001 D RGD:7240710 20180130 OMIM 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1346001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:11782983|PMID:15746149|PMID:17576681|PMID:23901204|PMID:25741868|PMID:26235985|PMID:26467025|PMID:26467484|PMID:28492532|PMID:30985297|PMID:9536098 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1346001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:28492532 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:1346001 D RGD:7240710 20180130 OMIM 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:0112105 X-linked parkinsonism-spasticity syndrome ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked parkinsonism-spasticity syndrome PMID:20629132|PMID:23595882 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:10763 hypertension ISO RGD:1561269 D RGD:9068941 20200609 RGD PMID:21321306|REF_RGD_ID:5132599 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:12849 autistic disorder ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:630 genetic disease ISO RGD:1346001 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467484|PMID:28492532 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9000744 Congenital Disorder of Glycosylation Type IIr ISO RGD:1346001 D RGD:7240710 20200429 OMIM 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9000744 Congenital Disorder of Glycosylation Type IIr ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr PMID:25741868|PMID:29127204 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9000784 Fibrosis ISO RGD:1346001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21795644 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:1561269 D RGD:9068941 20230817 RGD associated with maternal adenine induced chronic kidney disease PMID:32604820|REF_RGD_ID:401793718 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 8713851 Atp6ap2 ATPase H+ transporting accessory protein 2 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1346001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8713864 Zfp62 ZFP62 zinc finger protein gene DOID:630 genetic disease ISO RGD:1353379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713883 Tnpo3 transportin 3 gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 8713883 Tnpo3 transportin 3 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318997 D RGD:7240710 20180130 OMIM 8713883 Tnpo3 transportin 3 gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:11222786|PMID:16199547|PMID:17576681|PMID:23543484|PMID:23667635|PMID:25741868|PMID:28492532|PMID:30567601|PMID:31071488|PMID:31217819|PMID:31674007|PMID:31953240|PMID:9536098 8713883 Tnpo3 transportin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8713883 Tnpo3 transportin 3 gene DOID:630 genetic disease ISO RGD:1318997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8713916 Trafd1 TRAF-type zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1605702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713916 Trafd1 TRAF-type zinc finger domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8713930 Ulk3 unc-51 like kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8713930 Ulk3 unc-51 like kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1349871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8713930 Ulk3 unc-51 like kinase 3 gene DOID:5419 schizophrenia ISO RGD:1349871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8713930 Ulk3 unc-51 like kinase 3 gene DOID:630 genetic disease ISO RGD:1349871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713930 Ulk3 unc-51 like kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1349871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605526 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:0080600 COVID-19 ISO RGD:1605526 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:14330 Parkinson's disease ISO RGD:1605526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:630 genetic disease ISO RGD:1605526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713968 Draxin dorsal inhibitory axon guidance protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1605526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8713977 Tmem97 transmembrane protein 97 gene DOID:630 genetic disease ISO RGD:1607046 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713984 Med6 mediator complex subunit 6 gene DOID:630 genetic disease ISO RGD:1321116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:732300 D RGD:7240710 20190315 OMIM 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:0080442 developmental and epileptic encephalopathy 41 ISO RGD:732300 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 | ClinVar Annotator: match by term: SLC1A2-related condition PMID:23107647|PMID:23934111|PMID:24214974|PMID:25741868|PMID:27476654|PMID:28492532|PMID:28777935|PMID:30937933|PMID:31164858|PMID:31618753|PMID:34961934|PMID:36543780 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:1059 intellectual disability ISO RGD:732300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:12858 Huntington's disease ISO RGD:732300 D RGD:9068941 20200609 RGD PMID:9100675|REF_RGD_ID:13432194 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:12858 Huntington's disease ISO RGD:736773 D RGD:9068941 20200609 RGD PMID:17409241|REF_RGD_ID:13432195 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:1826 epilepsy ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11723166 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732300 D RGD:9068941 20200609 RGD mRNA:processing errors:spinal cord, motor cortex (human) PMID:9539131|REF_RGD_ID:1302517 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3697 D RGD:9068941 20230902 RGD PMID:20423712|REF_RGD_ID:401794585 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:630 genetic disease ISO RGD:732300 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23934111|PMID:27476654|PMID:28492532|PMID:30937933|PMID:34961934|PMID:36543780 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21471434 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:9002955 Nerve Degeneration ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22645130 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19625514 8713997 Slc1a2 solute carrier family 1 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 8714015 LOC102009633 chromosome unknown open reading frame, human C17orf62 gene DOID:0070368 autosomal recessive chronic granulomatous disease 5 ISO RGD:1606782 D RGD:7240710 20200722 OMIM 8714015 LOC102009633 chromosome unknown open reading frame, human C17orf62 gene DOID:0070368 autosomal recessive chronic granulomatous disease 5 ISO RGD:1606782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5 PMID:17576681|PMID:28492532|PMID:28600779|PMID:30312704|PMID:30361506|PMID:9536098 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1344181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:30311386|PMID:33326993|PMID:34652575 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:10283 prostate cancer ISO RGD:1344181 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:20166126|REF_RGD_ID:5688351 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:1240 leukemia ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19365708|PMID:19433130 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:1612 breast cancer ISO RGD:620109 D RGD:9068941 20200609 RGD PMID:20051871|REF_RGD_ID:5688283 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:2234 focal epilepsy ISO RGD:1344181 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:299 adenocarcinoma ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:3069 malignant astrocytoma ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:3459 breast carcinoma severity ISO RGD:1344181 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:12725419|REF_RGD_ID:2289908 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852035 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:630 genetic disease ISO RGD:1344181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11927493|PMID:12237244 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:9004389 Bone Neoplasms ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24134957 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1344181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 8714037 Ncoa3 nuclear receptor coactivator 3 gene DOID:9970 obesity ISO RGD:1344181 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:C-terminus polyglutamine repeat, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 Progesterone Receptor genotype associated with obesity in 301 postmenopausal women with breast cancer PMID:14557830|REF_RGD_ID:1642050 8714095 Ebpl EBP like gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8714095 Ebpl EBP like gene DOID:1059 intellectual disability ISO RGD:1312086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8714095 Ebpl EBP like gene DOID:630 genetic disease ISO RGD:1312086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714102 Spata33 spermatogenesis associated 33 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8714102 Spata33 spermatogenesis associated 33 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8714102 Spata33 spermatogenesis associated 33 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1602656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 8714102 Spata33 spermatogenesis associated 33 gene DOID:13636 Fanconi anemia ISO RGD:1602656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8714102 Spata33 spermatogenesis associated 33 gene DOID:14780 KBG syndrome ISO RGD:1602656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 8714102 Spata33 spermatogenesis associated 33 gene DOID:630 genetic disease ISO RGD:1602656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714112 Mosmo modulator of smoothened gene DOID:0060399 chromosome 16p12.1 deletion syndrome ISO RGD:2302534 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb PMID:25741868 8714112 Mosmo modulator of smoothened gene DOID:12849 autistic disorder ISO RGD:2302534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8714112 Mosmo modulator of smoothened gene DOID:5419 schizophrenia ISO RGD:2302534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8714168 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1321017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8714168 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1321017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8714168 Kbtbd4 kelch repeat and BTB domain containing 4 gene DOID:630 genetic disease ISO RGD:1321017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714189 Dtd1 D-aminoacyl-tRNA deacylase 1 gene DOID:630 genetic disease ISO RGD:1323478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:735518 D RGD:7240710 20180130 OMIM 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 | ClinVar Annotator: match by term: KCNA2-Related Disorder | ClinVar Annotator: match by term: KCNA2-related condition PMID:15694325|PMID:16002579|PMID:17634333|PMID:18414213|PMID:20696761|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:25950944|PMID:26467025|PMID:26599217|PMID:27062609|PMID:27117551|PMID:27457812|PMID:27543892|PMID:27733563|PMID:28019661|PMID:28032718|PMID:28204960|PMID:28492532|PMID:28806589|PMID:29050392|PMID:29100083|PMID:30182498|PMID:30283815|PMID:31170314|PMID:33232902|PMID:33624935|PMID:33802230|PMID:8663992|PMID:8663993 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:8663992|PMID:8663993 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:735518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:1059 intellectual disability ISO RGD:735518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751627 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:12849 autistic disorder ISO RGD:735518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:1826 epilepsy ISO RGD:735518 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:630 genetic disease ISO RGD:735518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:26467025|PMID:26648591|PMID:27062609|PMID:27457812|PMID:27543892|PMID:27733563|PMID:28019661|PMID:28032718|PMID:28492532|PMID:28806589|PMID:29050392|PMID:30182498|PMID:33232902|PMID:33802230|PMID:8663992|PMID:8663993 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:8663992|PMID:8663993 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9005466 Language Development Disorders ISO RGD:735518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751627 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2950 D RGD:9068941 20200609 RGD PMID:17982915|REF_RGD_ID:7242761 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:735518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8714239 Kcna2 potassium voltage-gated channel subfamily A member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 8714280 Ids iduronate 2-sulfatase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8714280 Ids iduronate 2-sulfatase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:1303211|PMID:1550586|PMID:18414213|PMID:18500569|PMID:19573456|PMID:21291454|PMID:21829674|PMID:22976768|PMID:22976778|PMID:24515576|PMID:25741868|PMID:27146977|PMID:27848944|PMID:28492532|PMID:29801497|PMID:31877959|PMID:8318991 8714280 Ids iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:7240710 20180130 OMIM 8714280 Ids iduronate 2-sulfatase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1351665 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form PMID:10215411|PMID:10220152|PMID:10671065|PMID:10738003|PMID:10814710|PMID:10838181|PMID:11452244|PMID:11462244|PMID:11683780|PMID:11731225|PMID:12572848|PMID:12794697|PMID:1284597|PMID:1303211|PMID:1355630|PMID:14728992|PMID:1550586|PMID:15614569|PMID:16133661|PMID:16199547|PMID:1639384|PMID:16480701|PMID:16495038|PMID:17063374|PMID:17091340|PMID:17284421|PMID:17343270|PMID:17391447|PMID:17576681|PMID:17655837|PMID:18414213|PMID:18500569|PMID:1906048|PMID:19573456|PMID:20104590|PMID:20301451|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22153556|PMID:22190500|PMID:22286622|PMID:22492741|PMID:22912587|PMID:22976768|PMID:22976778|PMID:22990955|PMID:23430829|PMID:24125893|PMID:24268528|PMID:24454794|PMID:24515576|PMID:24780617|PMID:24875751|PMID:25038527|PMID:25640679|PMID:25681085|PMID:25741868|PMID:25976201|PMID:26407519|PMID:26693516|PMID:26752647|PMID:26762690|PMID:27146977|PMID:27246110|PMID:27351199|PMID:27848944|PMID:27883178|PMID:27896113|PMID:28077157|PMID:28492532|PMID:28543354|PMID:28593992|PMID:29801497|PMID:30409495|PMID:30639582|PMID:30755392|PMID:30809705|PMID:31732130|PMID:31877959|PMID:31895584|PMID:32005694|PMID:32014045|PMID:33075783|PMID:33096603|PMID:33117908|PMID:33124617|PMID:33622387|PMID:33676511|PMID:33960103|PMID:34670126|PMID:34813777|PMID:35005816|PMID:35144014|PMID:35242576|PMID:36945845|PMID:7581397|PMID:7728156|PMID:7814022|PMID:7866405|PMID:7887413|PMID:8111411|PMID:8318991|PMID:8364592|PMID:8664909|PMID:8807335|PMID:8829647|PMID:8829661|PMID:8830188|PMID:8940265|PMID:9222763|PMID:9266380|PMID:9375851|PMID:9501270|PMID:9536098|PMID:9573369|PMID:9660053|PMID:9762601|PMID:9875019|PMID:9921913|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency PMID:1303211|PMID:1550586|PMID:18414213|PMID:18500569|PMID:21291454|PMID:21829674|PMID:25741868|PMID:27146977|PMID:28492532|PMID:8318991 8714280 Ids iduronate 2-sulfatase gene DOID:12849 autistic disorder ISO RGD:1351665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8714280 Ids iduronate 2-sulfatase gene DOID:630 genetic disease ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10215411|PMID:10671065|PMID:1639384|PMID:16495038|PMID:17063374|PMID:17091340|PMID:18414213|PMID:19573456|PMID:21291454|PMID:21639919|PMID:21829674|PMID:22286622|PMID:22976768|PMID:22976778|PMID:24125893|PMID:24515576|PMID:24780617|PMID:25741868|PMID:26407519|PMID:27246110|PMID:27883178|PMID:28077157|PMID:28492532|PMID:29801497|PMID:31877959|PMID:7728156|PMID:7887413|PMID:8940265|PMID:9501270|PMID:9573369|PMID:9875019|PMID:9950361 8714280 Ids iduronate 2-sulfatase gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1351665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 8714280 Ids iduronate 2-sulfatase gene DOID:9005172 Lung Neoplasms ISO RGD:1351665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8714280 Ids iduronate 2-sulfatase gene DOID:9008086 Developmental Disabilities ISO RGD:1351665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:30755392|PMID:34670126 8714296 Ecd ecdysoneless cell cycle regulator gene DOID:630 genetic disease ISO RGD:1604642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714317 Tfcp2 transcription factor CP2 gene DOID:630 genetic disease ISO RGD:1315527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:15519027|PMID:19574547|PMID:20474083|PMID:23690394|PMID:24033266|PMID:24510615|PMID:25543971|PMID:25611685|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28615295|PMID:31534214 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050451 Brugada syndrome ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050451 Brugada syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28356264|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17386157|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20298698|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26743238 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28265379|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29988065|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30985088|PMID:31006259|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31293105|PMID:3140859|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31589614|PMID:31730716|PMID:31737537|PMID:31918855|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32396390|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32880476|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26654849 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29524613|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31323898|PMID:31376648|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33432171|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34935411|PMID:35535697|PMID:35626289|PMID:35629155|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33919104|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34426522|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33919104|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34819141|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35304488|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:36328362|PMID:36588553|PMID:397516074|PMID:3980194 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28255936|PMID:28265379|PMID:28301460|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32233023|PMID:32250699|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33232181|PMID:33258288|PMID:33297573|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33906374|PMID:33919104|PMID:34011823|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34598319|PMID:34816733|PMID:34819141|PMID:34915024|PMID:34935411|PMID:35208637|PMID:35304488|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:36264615 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:36328362|PMID:36588553|PMID:397516074|PMID:3980194|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19694057|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24440382|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30669812|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31660989|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32041989|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32901917|PMID:32917565|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526 8714363 Mybpc3 myosin binding protein C3 gene DOID:0050700 cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33588347|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:34011823|PMID:34026292|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34667957|PMID:34769381|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35753512|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36352534|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36788754|PMID:36835444|PMID:37178278|PMID:37477868|PMID:37589201|PMID:37963751|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0060319 cardiac arrest ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:14563344|PMID:15519027|PMID:16352453|PMID:20624503|PMID:22361390|PMID:23140321|PMID:23299917|PMID:23785128|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25163546|PMID:25741868|PMID:28492532|PMID:33035702 8714363 Mybpc3 myosin binding protein C3 gene DOID:0060480 left ventricular noncompaction ISO RGD:1314284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:14563344|PMID:15519027|PMID:16061003|PMID:16352453|PMID:17560888|PMID:18533079|PMID:18929575|PMID:19574547|PMID:19666645|PMID:19808356|PMID:20019025|PMID:20031619|PMID:20045868|PMID:20624503|PMID:21511876|PMID:21939669|PMID:22115648|PMID:22361390|PMID:22455086|PMID:23140321|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23674513|PMID:23711808|PMID:23740383|PMID:23785128|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25163546|PMID:25351510|PMID:25611685|PMID:25741868|PMID:25856671|PMID:26090888|PMID:26163040|PMID:27532257|PMID:27841901|PMID:28031081|PMID:28193612|PMID:28202948|PMID:28323875|PMID:28492532|PMID:28518168|PMID:28679633|PMID:29121657|PMID:29398688|PMID:29555771|PMID:29907873|PMID:30297972|PMID:31699567|PMID:31918855|PMID:32380161|PMID:32492895|PMID:33035702|PMID:33830315|PMID:34853230|PMID:35284542 8714363 Mybpc3 myosin binding protein C3 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1314284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:24033266|PMID:24510615|PMID:25741868|PMID:28492532|PMID:28600387|PMID:29255176 8714363 Mybpc3 myosin binding protein C3 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600387 8714363 Mybpc3 myosin binding protein C3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29773157|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30446606|PMID:30550750|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31737537|PMID:32009526|PMID:32163302|PMID:32451163|PMID:32746448|PMID:32880476|PMID:33673806|PMID:34097875|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31293105|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32451163|PMID:32480058|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36588553|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36588553|PMID:397516074|PMID:3980194|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900 8714363 Mybpc3 myosin binding protein C3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29497013|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32588587|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36588553|PMID:37178278|PMID:37477868|PMID:37589201|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:7240710 20180130 OMIM 8714363 Mybpc3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12379228|PMID:12386147|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17224687|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19808356|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20594303|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:20864638|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21915287|PMID:21939669|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24793961|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26743238|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913 8714363 Mybpc3 myosin binding protein C3 gene DOID:0081158 dilated cardiomyopathy 1MM ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1MM | ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:28166282|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30282064|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30645170|PMID:30685992|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30924982|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31323898|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31589614|PMID:31699567|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32880476|PMID:32917565|PMID:33003980|PMID:33035702|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33302605|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33657327|PMID:33658040|PMID:33673806|PMID:33782553|PMID:33830315|PMID:33906374|PMID:33919104|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34555931|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35885957|PMID:35934244|PMID:36166435|PMID:36178741|PMID:36291626|PMID:36357371|PMID:36788754|PMID:37477868|PMID:397516074|PMID:3980194|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1314284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:15519027|PMID:18533079|PMID:20414521|PMID:20624503|PMID:21415409|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24093860|PMID:25524337|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27267291|PMID:28420666|PMID:28492532|PMID:28518168|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:31376648|PMID:31453232|PMID:32369506 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217|PMID:29447731 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:34097875|PMID:34135346|PMID:34137518|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11815426|PMID:11847170|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25640679|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27153395|PMID:27194543|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28807990|PMID:28824454|PMID:28916354|PMID:28971120|PMID:29029073|PMID:29030401|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:2943217 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29663722|PMID:29686099|PMID:29759671|PMID:29790872|PMID:29875314|PMID:29875424|PMID:30025578|PMID:30165862|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31199839|PMID:31333075|PMID:31447099|PMID:31513939|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31980526|PMID:32009526|PMID:32123317|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32880476|PMID:33190526|PMID:33258288|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34588271|PMID:35535697|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28323875|PMID:28356264 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32250699|PMID:32341788|PMID:32420109|PMID:32451163|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34389451|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35208637|PMID:35535697|PMID:35626289|PMID:35653365|PMID:397516074|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10521296|PMID:10610770|PMID:10736283|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17224687|PMID:17560888|PMID:17576681|PMID:17908752|PMID:18258667|PMID:18273486|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19150014|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19659763|PMID:19808356|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20045868|PMID:20051424|PMID:20159828|PMID:20173211|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20530761|PMID:20542340|PMID:20624503|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:21088121|PMID:21185001|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21499742|PMID:21511876|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22173300|PMID:22177269|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25163546|PMID:25214167|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26822237|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:27930701|PMID:28024942|PMID:28029522|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28193612|PMID:28214152|PMID:28241245|PMID:28254189|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29451820|PMID:29511324|PMID:29540445|PMID:29555771|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:30025578|PMID:30165862|PMID:30206291|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30550750|PMID:30554920|PMID:30609409|PMID:30611859|PMID:30645170|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30775854|PMID:30847666|PMID:30871747|PMID:30959811|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31333075|PMID:31376648|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31737537|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32123317|PMID:32163302|PMID:32228044|PMID:32250699|PMID:32341788|PMID:32369506|PMID:32380161|PMID:32420109|PMID:32451163|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32830170|PMID:32841044|PMID:32880476|PMID:33003980|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33663232|PMID:33673806|PMID:33782553|PMID:33906374|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34400558|PMID:34426522|PMID:34542152|PMID:34588271|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35411935|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36291626|PMID:36357371|PMID:36588553|PMID:37178278|PMID:37477868|PMID:397516074|PMID:3980194|PMID:739990|PMID:7493025|PMID:7493026|PMID:8533079|PMID:9048664|PMID:9241277|PMID:9503187|PMID:9536098|PMID:9541104|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:7240710 20180130 OMIM 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386147|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12881443|PMID:12951062|PMID:12974739|PMID:1428680|PMID:14563344|PMID:14613868|PMID:15000344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15358028|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15856146|PMID:15936968|PMID:16004897|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17394878|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17655857|PMID:17908752|PMID:17937428|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21896538|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition PMID:25741868|PMID:25741869|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26332198|PMID:26332594|PMID:26383716|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27066506|PMID:27096365|PMID:27108529|PMID:27114410|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436997|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28699631|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29099038|PMID:29121657|PMID:29192238|PMID:2921289|PMID:29212898|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29493010|PMID:29511324|PMID:29517769|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30959811|PMID:30972196|PMID:30984009|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32123317|PMID:32163302|PMID:32183154|PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32860008|PMID:32880476|PMID:32901917|PMID:32917565|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33190526|PMID:33241513|PMID:33258288|PMID:33302605|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33673806|PMID:33757590|PMID:33782553|PMID:3378553|PMID:33830315|PMID:33906374|PMID:33919104|PMID:34008892|PMID:34026292|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 4, susceptibility to | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar Annotator: match by term: MYBPC3-related condition PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34598319|PMID:34667957|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36357371|PMID:36580209|PMID:36788754|PMID:36835444|PMID:37178278|PMID:37477868|PMID:37589201|PMID:37963751|PMID:397516074|PMID:3980194|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:8655135|PMID:9048664|PMID:9218526|PMID:9241277|PMID:924849|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17560888|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20474083|PMID:22337857|PMID:22763267|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24510615|PMID:24621997|PMID:24865491|PMID:25326637|PMID:25377941|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:27600940|PMID:28420666|PMID:28492532|PMID:28679633|PMID:31931689|PMID:31983221|PMID:33432171 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17560888|PMID:20045868|PMID:20215591|PMID:20435227|PMID:20474083|PMID:22337857|PMID:22763267|PMID:22958901|PMID:23283745|PMID:23299917|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24510615|PMID:24621997|PMID:24865491|PMID:25377941|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332594|PMID:26458567|PMID:26467025|PMID:27600940|PMID:28420666|PMID:28492532|PMID:28679633|PMID:31931689|PMID:31983221|PMID:33432171 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110431 dilated cardiomyopathy 1I ISO RGD:1314284 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1I PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19574547|PMID:21409595|PMID:21985754|PMID:22455086|PMID:24033266|PMID:24510615|PMID:25031304|PMID:25741868|PMID:25892673|PMID:26271555|PMID:27532257|PMID:27600940|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29121657|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31513939|PMID:31737537|PMID:33673806 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1314284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:10521296|PMID:10610770|PMID:12110947|PMID:12117842|PMID:12386147|PMID:12566107|PMID:12628722|PMID:12707239|PMID:12818575|PMID:12951062|PMID:14563344|PMID:15010274|PMID:15114369|PMID:15115610|PMID:15519027|PMID:16199542|PMID:16651346|PMID:16831826|PMID:16858239|PMID:17576681|PMID:18403758|PMID:18414213|PMID:18533079|PMID:18761664|PMID:19035361|PMID:19150014|PMID:20378854|PMID:20433692|PMID:2073894|PMID:20738943|PMID:21239446|PMID:21302287|PMID:21472310|PMID:21835320|PMID:21839045|PMID:22057632|PMID:22267749|PMID:22765922|PMID:22857948|PMID:23054336|PMID:23233322|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24774285|PMID:24793961|PMID:25031304|PMID:25078086|PMID:25342278|PMID:25351510|PMID:25447171|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26822237|PMID:27483260|PMID:27532257|PMID:28492532|PMID:28538763|PMID:28611029|PMID:28615295|PMID:28658286|PMID:28679633|PMID:29030401|PMID:29121657|PMID:29511324|PMID:29790872|PMID:30609409|PMID:30645170|PMID:31006259|PMID:31447099|PMID:31514951|PMID:32686758|PMID:32731933|PMID:32841044|PMID:34097875|PMID:9048664|PMID:9536098|PMID:9631872 8714363 Mybpc3 myosin binding protein C3 gene DOID:0110488 autosomal recessive nonsyndromic deafness 3 ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3 PMID:21750094|PMID:25741868|PMID:28492532|PMID:30847666|PMID:33029862|PMID:34389451 8714363 Mybpc3 myosin binding protein C3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1314284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:11499718|PMID:12881443|PMID:12951062|PMID:15358028|PMID:15519027|PMID:15856146|PMID:16715312|PMID:18403758|PMID:18409188|PMID:18957093|PMID:19150014|PMID:19659763|PMID:20019025|PMID:20624503|PMID:21185001|PMID:21239446|PMID:21638988|PMID:22267749|PMID:22455086|PMID:22857948|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24510615|PMID:24704860|PMID:25031304|PMID:25741868|PMID:26671970|PMID:27532257|PMID:27688314|PMID:27737317|PMID:28024942|PMID:28492532|PMID:28615295|PMID:29121657|PMID:29447731|PMID:30847666|PMID:30871747|PMID:31447099|PMID:33673806|PMID:35535697|PMID:8655135|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:10487 Hirschsprung's disease ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:25741868 8714363 Mybpc3 myosin binding protein C3 gene DOID:1059 intellectual disability ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073 8714363 Mybpc3 myosin binding protein C3 gene DOID:1059 intellectual disability ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15519027|PMID:16199547|PMID:18957093|PMID:19574547|PMID:21750094|PMID:22267749|PMID:23674513|PMID:24033266|PMID:24510615|PMID:25525159|PMID:25637381|PMID:25741868|PMID:27096365|PMID:27532257|PMID:27831900|PMID:28492532|PMID:29029073|PMID:31447099|PMID:32686758|PMID:33258288 8714363 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10424815|PMID:10521296|PMID:10610770|PMID:10736283|PMID:11447480|PMID:11499718|PMID:11499719|PMID:11748309|PMID:11815426|PMID:11835941|PMID:11847170|PMID:12106841|PMID:12110947|PMID:12117842|PMID:12202917|PMID:12386140|PMID:12386147|PMID:12403824|PMID:12566107|PMID:12601548|PMID:12628722|PMID:12707239|PMID:12787675|PMID:12788380|PMID:12818575|PMID:12951062|PMID:12974739|PMID:14563344|PMID:14613868|PMID:14718142|PMID:15000344|PMID:15010274|PMID:1504154|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15370892|PMID:15519027|PMID:15563892|PMID:15671604|PMID:1572569|PMID:15769446|PMID:15823648|PMID:15936968|PMID:16004897|PMID:16061003|PMID:16141195|PMID:16181148|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16335287|PMID:16352453|PMID:16566405|PMID:16651346|PMID:16679492|PMID:16715312|PMID:16754800|PMID:16799241|PMID:16831826|PMID:16858239|PMID:17081393|PMID:17224687|PMID:17263690|PMID:17386157|PMID:17394878|PMID:17521870|PMID:17536430|PMID:17560888|PMID:17576681|PMID:17612681|PMID:17643520|PMID:17655857|PMID:17908752|PMID:17937428|PMID:17947214|PMID:18258667|PMID:18273486|PMID:18337725|PMID:18374358|PMID:18400036|PMID:18403758|PMID:18409188|PMID:18414213|PMID:18467358|PMID:1853307|PMID:18533079|PMID:18713777|PMID:18761664|PMID:18803133|PMID:18809796|PMID:18926831|PMID:18929575|PMID:18957093|PMID:19035361|PMID:19134269|PMID:19149795|PMID:19150014|PMID:19151713|PMID:19273718|PMID:19293840|PMID:19356534|PMID:19406073|PMID:19574547|PMID:19590044|PMID:19632136|PMID:19659763|PMID:19666645|PMID:19763152|PMID:19808356|PMID:19858127|PMID:198863|PMID:19996403|PMID:20019025|PMID:20021930|PMID:20031602|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20051424|PMID:20128375|PMID:20159828|PMID:20173211|PMID:20201939|PMID:20215591|PMID:20307669|PMID:20359594|PMID:20378854|PMID:203962|PMID:203979|PMID:20414521|PMID:20433692|PMID:20435227|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20505798|PMID:20513729|PMID:20530761|PMID:20542340|PMID:20560008|PMID:20594303|PMID:20605413|PMID:20624503|PMID:20641121|PMID:20689143|PMID:2073894|PMID:20738943|PMID:20800588|PMID:20818890|PMID:208206|PMID:208208|PMID:20864638|PMID:20975235|PMID:21088121|PMID:21165360|PMID:21185001|PMID:21185128|PMID:21239446|PMID:21252143|PMID:21297165|PMID:21302287|PMID:21310275|PMID:21409595|PMID:21415409|PMID:21424860|PMID:21425739|PMID:21472310|PMID:21488259|PMID:21488307|PMID:21499742|PMID:21511876|PMID:21520333|PMID:21551322|PMID:21638988|PMID:21750094|PMID:21799269|PMID:21817903|PMID:21832025|PMID:21832052|PMID:21835286|PMID:21835320|PMID:21839045|PMID:21890325|PMID:21896538|PMID:21915287|PMID:21939669|PMID:21943931|PMID:21959974|PMID:21985754|PMID:22057632|PMID:22112859|PMID:22115648|PMID:22122802|PMID:22173300|PMID:22177269|PMID:22178992|PMID:22194935|PMID:22267749|PMID:22314326|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22406018|PMID:22429680|PMID:22455086|PMID:22462493|PMID:22464770|PMID:22555271|PMID:22560514|PMID:22563033|PMID:22569109|PMID:22574137|PMID:22589294|PMID:22763267|PMID:22765922|PMID:22857948|PMID:22907696|PMID:22958901|PMID:22989827|PMID:22995991|PMID:23054336|PMID:23074333|PMID:23140321|PMID:23164068|PMID:23197398|PMID:23217326|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23348723|PMID:23349452|PMID:23396983|PMID:23406853|PMID:23418287|PMID:23508784|PMID:23527136|PMID:23534983|PMID:23549607|PMID:23590259|PMID:23642604|PMID:23674513|PMID:23690394|PMID:23711808|PMID:23740383|PMID:23782526|PMID:23785128|PMID:23816408|PMID:23820649|PMID:23840593|PMID:23861362|PMID:23980194|PMID:24033266|PMID:24055113|PMID:24062880|PMID:24083979|PMID:24093860|PMID:24111713|PMID:24113344|PMID:24119082|PMID:24327208|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24602869|PMID:24621997|PMID:24704860|PMID:24721642|PMID:24749114|PMID:24774285|PMID:24774606|PMID:24793961|PMID:24795128|PMID:24810389|PMID:24835277|PMID:24865491|PMID:24888384|PMID:25031304|PMID:25034069|PMID:25037680|PMID:25058872|PMID:25078086|PMID:25086479|PMID:25127965|PMID:25132132|PMID:25163546 8714363 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25210889|PMID:25214167|PMID:25228707|PMID:25262865|PMID:25281569|PMID:25335496|PMID:25342278|PMID:25351510|PMID:25377941|PMID:25443708|PMID:25447171|PMID:25512492|PMID:25524337|PMID:25525159|PMID:25543971|PMID:25558701|PMID:25569433|PMID:25583989|PMID:2561168|PMID:25611685|PMID:25631583|PMID:25635128|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:25741869|PMID:25849606|PMID:25856671|PMID:25892673|PMID:25971843|PMID:26090888|PMID:26163040|PMID:26178432|PMID:26189708|PMID:26223264|PMID:26267065|PMID:26271555|PMID:26272908|PMID:26332198|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26455666|PMID:26458567|PMID:26467025|PMID:26489474|PMID:26497160|PMID:26633542|PMID:26654849|PMID:26656175|PMID:26671970|PMID:26688216|PMID:26688388|PMID:26743238|PMID:26822237|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27000522|PMID:27005929|PMID:27066506|PMID:27066507|PMID:27096365|PMID:27108529|PMID:27112610|PMID:27114410|PMID:27135274|PMID:27153395|PMID:27173948|PMID:27194543|PMID:27217341|PMID:27267291|PMID:2732257|PMID:27332903|PMID:27391121|PMID:27418595|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27585509|PMID:27590665|PMID:27600940|PMID:27618852|PMID:27620334|PMID:27650965|PMID:27688314|PMID:27707468|PMID:27737317|PMID:27831900|PMID:27834932|PMID:27841901|PMID:27884173|PMID:27885498|PMID:27896284|PMID:27930701|PMID:28024942|PMID:28029522|PMID:28031081|PMID:28074886|PMID:28087566|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28214152|PMID:28241245|PMID:28254189|PMID:28255936|PMID:28265379|PMID:28301460|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28436997|PMID:28450932|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28538763|PMID:28600387|PMID:28611029|PMID:28614222|PMID:28615295|PMID:28640247|PMID:28658286|PMID:28679633|PMID:28694399|PMID:28699631|PMID:28747690|PMID:28749478|PMID:28750076|PMID:28771489|PMID:28790153|PMID:28794111|PMID:28797094|PMID:28798025|PMID:28807990|PMID:28822653|PMID:28824454|PMID:28840316|PMID:28843747|PMID:28855170|PMID:28916354|PMID:28971120|PMID:28986452|PMID:29029073|PMID:29030401|PMID:29032884|PMID:29095814|PMID:29099038|PMID:29121657|PMID:29192238|PMID:2921289|PMID:29212898|PMID:29219260|PMID:29237689|PMID:29247119|PMID:29255176|PMID:29367541|PMID:29398688|PMID:29415625|PMID:29420653|PMID:2943217|PMID:29447731|PMID:29449720|PMID:29451820|PMID:29493010|PMID:29497013|PMID:29511324|PMID:29517769|PMID:29524613|PMID:29540445|PMID:29540472|PMID:29555771|PMID:29565423|PMID:29631964|PMID:29641836|PMID:29661763|PMID:29663722|PMID:29686099|PMID:29687901|PMID:29709087|PMID:29710196|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29853478|PMID:29875314|PMID:29875424|PMID:29907873|PMID:29914921|PMID:29988065|PMID:29998127|PMID:30009132|PMID:30025578|PMID:30105547|PMID:30165862|PMID:30188508|PMID:30206291|PMID:30282064|PMID:30291343|PMID:30297972|PMID:30316040|PMID:30442288|PMID:30446606|PMID:30471092|PMID:30528150|PMID:30550750|PMID:30554920|PMID:30586709|PMID:30600190|PMID:30609409|PMID:30611859|PMID:30615648|PMID:30645170|PMID:30665703|PMID:30685992|PMID:30696458|PMID:30731207|PMID:30742251|PMID:30762279|PMID:30763825|PMID:30775854|PMID:30790116|PMID:30847666|PMID:30871747|PMID:30896616|PMID:30924982|PMID:30959811|PMID:30972196|PMID:30984009|PMID:30985088|PMID:31006259|PMID:31019283|PMID:31028938|PMID:31050699|PMID:31110529|PMID:31112421|PMID:31179125|PMID:31199839|PMID:31219556|PMID:31293105|PMID:31308319|PMID:31317183|PMID:31323898|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:3140859|PMID:31424582|PMID:31447099|PMID:31453232|PMID:31513939|PMID:31514951|PMID:31524317|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31677916|PMID:31699567|PMID:31730716|PMID:31737537|PMID:31901299|PMID:31918855|PMID:31919335|PMID:31931689|PMID:31941943|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32030742|PMID:32034629|PMID:32101375|PMID:32123317|PMID:32163302|PMID:32183154 8714363 Mybpc3 myosin binding protein C3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:32228044|PMID:32233023|PMID:32250699|PMID:32341788|PMID:32344918|PMID:32355288|PMID:32356610|PMID:32369506|PMID:32380161|PMID:32396390|PMID:32420109|PMID:32451163|PMID:32480058|PMID:32481709|PMID:32492895|PMID:32531501|PMID:32543992|PMID:32588587|PMID:32600061|PMID:32656747|PMID:32659924|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32764337|PMID:32815737|PMID:32826072|PMID:32830170|PMID:32841044|PMID:32860008|PMID:32880476|PMID:32901917|PMID:32917565|PMID:33003980|PMID:33029862|PMID:33035702|PMID:33087929|PMID:33148509|PMID:33190526|PMID:33232181|PMID:33241513|PMID:33258288|PMID:33297573|PMID:33302605|PMID:33325730|PMID:33407484|PMID:33432171|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33530161|PMID:33586461|PMID:33657327|PMID:33658040|PMID:33658374|PMID:33662488|PMID:33663232|PMID:33673806|PMID:33757590|PMID:33764162|PMID:33782553|PMID:3378553|PMID:33830315|PMID:33892289|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34011823|PMID:34026292|PMID:34076677|PMID:34088380|PMID:34097875|PMID:34135346|PMID:34137518|PMID:34310159|PMID:34389451|PMID:34395343|PMID:34400558|PMID:34426522|PMID:34428338|PMID:34503678|PMID:34540771|PMID:34542152|PMID:34555931|PMID:34556856|PMID:34588271|PMID:34598319|PMID:34667957|PMID:34769381|PMID:34816733|PMID:34819141|PMID:34853230|PMID:34915024|PMID:34935411|PMID:34949102|PMID:35026164|PMID:35027292|PMID:35199016|PMID:35200695|PMID:35208637|PMID:35227736|PMID:35265679|PMID:35284542|PMID:35288587|PMID:35304488|PMID:35411935|PMID:35470680|PMID:35470684|PMID:35508642|PMID:35535697|PMID:35581137|PMID:35581268|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35885957|PMID:35934244|PMID:36082122|PMID:36166435|PMID:36178741|PMID:36203036|PMID:36252119|PMID:36264615|PMID:36291626|PMID:36293497|PMID:36328362|PMID:36357371|PMID:36580209|PMID:36588553|PMID:36788754|PMID:36835444|PMID:37178278|PMID:37477868|PMID:37589201|PMID:37963751|PMID:3852942|PMID:397516074|PMID:3980194|PMID:739990|PMID:747929|PMID:7493025|PMID:7493026|PMID:7786104|PMID:8533079|PMID:9048664|PMID:9218526|PMID:9241277|PMID:924849|PMID:925171|PMID:9503187|PMID:950554|PMID:9536098|PMID:9541100|PMID:9541104|PMID:9541115|PMID:9562578|PMID:9631872|PMID:9742053 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30972196|PMID:31006259|PMID:31028938|PMID:32009526|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29875424|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31447099|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32686758|PMID:33782553|PMID:34097875|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33495597|PMID:33500567|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25569433|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32841044|PMID:33190526|PMID:33432171|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34389451|PMID:34426522|PMID:34935411|PMID:7493025|PMID:8533079|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11499718|PMID:11499719|PMID:11815426|PMID:12110947|PMID:12202917|PMID:12707239|PMID:12818575|PMID:12974739|PMID:14563344|PMID:15114369|PMID:15115610|PMID:15166115|PMID:15519027|PMID:1572569|PMID:16004897|PMID:16181148|PMID:16199542|PMID:16715312|PMID:16858239|PMID:17560888|PMID:18403758|PMID:18409188|PMID:18533079|PMID:18761664|PMID:18809796|PMID:18929575|PMID:18957093|PMID:19150014|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20031619|PMID:20045868|PMID:20215591|PMID:20378854|PMID:203962|PMID:20433692|PMID:20435227|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20560008|PMID:20624503|PMID:20800588|PMID:20818890|PMID:20864638|PMID:21239446|PMID:21302287|PMID:21310275|PMID:21511876|PMID:21750094|PMID:21835320|PMID:21839045|PMID:21959974|PMID:22122802|PMID:22194935|PMID:22267749|PMID:22337857|PMID:22361390|PMID:22386539|PMID:22464770|PMID:22555271|PMID:22563033|PMID:22589294|PMID:22763267|PMID:22857948|PMID:22907696|PMID:22958901|PMID:23054336|PMID:23140321|PMID:23197398|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23549607|PMID:23642604|PMID:23690394|PMID:23711808|PMID:23782526|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24447051|PMID:24503780|PMID:24510615|PMID:24621997|PMID:24793961|PMID:24810389|PMID:24865491|PMID:25031304|PMID:25058872|PMID:25086479|PMID:25163546|PMID:25351510|PMID:25377941|PMID:25524337|PMID:25569433|PMID:25611685|PMID:25637381|PMID:25714468|PMID:25740977|PMID:25741868|PMID:26090888|PMID:26178432|PMID:26332198|PMID:26332594|PMID:26458567|PMID:26467025|PMID:26633542|PMID:26914223|PMID:27153395|PMID:27194543|PMID:27418595|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27576561|PMID:27600940|PMID:27650965|PMID:27831900|PMID:27885498|PMID:27896284|PMID:28214152|PMID:2832387|PMID:28323875|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28498465|PMID:28518168|PMID:28679633|PMID:28771489|PMID:28790153|PMID:28807990|PMID:28843747|PMID:28971120|PMID:29121657|PMID:29367541|PMID:29420653|PMID:29511324|PMID:29875314|PMID:29875424|PMID:29914921|PMID:30165862|PMID:30316040|PMID:30471092|PMID:30554920|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31028938|PMID:31219556|PMID:31376648|PMID:31447099|PMID:31514951|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32250699|PMID:32686758|PMID:32731933|PMID:32841044|PMID:33190526|PMID:33241513|PMID:33432171|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:33782553|PMID:34097875|PMID:34310159|PMID:34389451|PMID:34426522|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35265679|PMID:35411935|PMID:35581137|PMID:35581268|PMID:35653365|PMID:7493025|PMID:8533079|PMID:9048664|PMID:925171|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:2843 long QT syndrome ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:22429680|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28492532|PMID:28679633|PMID:28771489|PMID:30297972|PMID:32746448|PMID:33673806 8714363 Mybpc3 myosin binding protein C3 gene DOID:2843 long QT syndrome ISO RGD:1314284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19632136|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21750094|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28138913|PMID:28492532|PMID:28679633|PMID:28771489|PMID:29255176|PMID:29853478|PMID:30297972|PMID:30847666|PMID:31323898|PMID:32746448|PMID:32841044|PMID:33495597|PMID:33673806|PMID:33782553 8714363 Mybpc3 myosin binding protein C3 gene DOID:2843 long QT syndrome ISO RGD:1314284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:16335287|PMID:16715312|PMID:18533079|PMID:18957093|PMID:19574547|PMID:19632136|PMID:19996403|PMID:20215591|PMID:20458009|PMID:20624503|PMID:20800588|PMID:208206|PMID:21310275|PMID:21750094|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22763267|PMID:22857948|PMID:22958901|PMID:23140321|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24119082|PMID:24503780|PMID:24510615|PMID:24721642|PMID:25163546|PMID:25342278|PMID:25524337|PMID:25741868|PMID:26467025|PMID:26914223|PMID:27153395|PMID:27532257|PMID:28138913|PMID:28254189|PMID:28492532|PMID:28679633|PMID:28771489|PMID:29255176|PMID:29853478|PMID:30297972|PMID:30847666|PMID:31110529|PMID:31323898|PMID:32746448|PMID:32841044|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33782553 8714363 Mybpc3 myosin binding protein C3 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:16858239|PMID:18533079|PMID:19150014|PMID:20031602|PMID:20173211|PMID:20414521|PMID:20624503|PMID:20800588|PMID:21415409|PMID:21750094|PMID:21835320|PMID:22765922|PMID:23233322|PMID:23299917|PMID:23508784|PMID:23690394|PMID:24033266|PMID:24093860|PMID:24793961|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25971843|PMID:26090888|PMID:27108529|PMID:27267291|PMID:27483260|PMID:27532257|PMID:27590665|PMID:27600940|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28420666|PMID:28492532|PMID:28518168|PMID:28798025|PMID:28840316|PMID:28986452|PMID:30297972|PMID:30446606|PMID:30645170|PMID:30731207|PMID:30871747|PMID:30972196|PMID:31376648|PMID:31453232|PMID:31941943|PMID:32228044|PMID:32369506|PMID:36291626 8714363 Mybpc3 myosin binding protein C3 gene DOID:574 peripheral nervous system disease ISO RGD:1314284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553 8714363 Mybpc3 myosin binding protein C3 gene DOID:630 genetic disease ISO RGD:1314284 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17937428|PMID:18258667|PMID:18403758|PMID:18467358|PMID:19574547|PMID:19808356|PMID:21835286|PMID:23054336|PMID:24033266|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28214152|PMID:28492532|PMID:29121657|PMID:29212898|PMID:30297972|PMID:31447099|PMID:7493025 8714363 Mybpc3 myosin binding protein C3 gene DOID:870 neuropathy ISO RGD:1314284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22958901|PMID:24793961|PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000299 cardiac amyloidosis ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1314284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12707239|PMID:12818575|PMID:15115610|PMID:15166115|PMID:15519027|PMID:16199542|PMID:18258667|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18809796|PMID:19293840|PMID:19574547|PMID:20031618|PMID:20378854|PMID:20624503|PMID:20800588|PMID:20818890|PMID:21310275|PMID:21551322|PMID:21839045|PMID:21959974|PMID:22267749|PMID:22386539|PMID:22555271|PMID:22563033|PMID:22589294|PMID:22958901|PMID:23054336|PMID:23299917|PMID:23396983|PMID:23642604|PMID:23690394|PMID:23711808|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24510615|PMID:24793961|PMID:24810389|PMID:25058872|PMID:25132132|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26633542|PMID:27532257|PMID:27600940|PMID:27831900|PMID:27885498|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28679633|PMID:29121657|PMID:29875424|PMID:30316040|PMID:30471092|PMID:30554920|PMID:30611859|PMID:30775854|PMID:30847666|PMID:30924982|PMID:31006259|PMID:31333075|PMID:31447099|PMID:31568572|PMID:31980526|PMID:32686758|PMID:32841044|PMID:33495596|PMID:33495597|PMID:34426522|PMID:34540771|PMID:35653365|PMID:925171|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000590 Dyspnea ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dyspnea PMID:17576681|PMID:203979|PMID:20433692|PMID:20800588|PMID:23283745|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:31028938|PMID:9536098 8714363 Mybpc3 myosin binding protein C3 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium PMID:25741868 8714363 Mybpc3 myosin binding protein C3 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:11499719|PMID:12974739|PMID:15519027|PMID:17560888|PMID:22464770|PMID:22763267|PMID:22995991|PMID:23217326|PMID:23233322|PMID:23820649|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26090888|PMID:26332594|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1314284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:15519027|PMID:16858239|PMID:17576681|PMID:18273486|PMID:18533079|PMID:20215591|PMID:21415409|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:22555271|PMID:23054336|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25740977|PMID:25741868|PMID:26914223|PMID:27483260|PMID:27532257|PMID:27688314|PMID:28138913|PMID:28356264|PMID:28492532|PMID:28658286|PMID:28679633|PMID:28824454|PMID:28916354|PMID:28971120|PMID:34137518|PMID:9536098 8714363 Mybpc3 myosin binding protein C3 gene DOID:9002554 Tachycardia ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tachycardia PMID:17576681|PMID:203979|PMID:20433692|PMID:20800588|PMID:23283745|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:31028938|PMID:9536098 8714363 Mybpc3 myosin binding protein C3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:12707239|PMID:18533079|PMID:20215591|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25351510|PMID:25741868|PMID:26914223|PMID:28356264|PMID:28492532 8714363 Mybpc3 myosin binding protein C3 gene DOID:9003163 Heart Block ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart | ClinVar Annotator: match by term: Heart block PMID:15519027|PMID:16858239|PMID:17576681|PMID:18273486|PMID:18533079|PMID:20215591|PMID:203979|PMID:20433692|PMID:20800588|PMID:21415409|PMID:21499742|PMID:21832025|PMID:21832052|PMID:21835320|PMID:22361390|PMID:22555271|PMID:23054336|PMID:23283745|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24510615|PMID:25031304|PMID:25351510|PMID:25740977|PMID:25741868|PMID:26914223|PMID:27483260|PMID:27532257|PMID:27688314|PMID:28138913|PMID:28356264|PMID:28492532|PMID:28615295|PMID:28658286|PMID:28679633|PMID:28824454|PMID:28916354|PMID:28971120|PMID:2943217|PMID:30645170|PMID:30775854|PMID:31028938|PMID:34137518|PMID:9536098 8714363 Mybpc3 myosin binding protein C3 gene DOID:9003936 Cardiomegaly ISO RGD:1314284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22189562 8714363 Mybpc3 myosin binding protein C3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1314284 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:11499719|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16715312|PMID:16754800|PMID:18403758|PMID:18409188|PMID:18761664|PMID:18957093|PMID:19574547|PMID:20051424|PMID:20215591|PMID:21297165|PMID:21409595|PMID:21415409|PMID:21551322|PMID:21985754|PMID:22173300|PMID:22337857|PMID:22455086|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24774606|PMID:24795128|PMID:25031304|PMID:25335496|PMID:25351510|PMID:25637381|PMID:25741868|PMID:25892673|PMID:26223264|PMID:26271555|PMID:27066506|PMID:27435932|PMID:27532257|PMID:27576561|PMID:27600940|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28640247|PMID:29121657|PMID:29686099|PMID:30025578|PMID:30550750|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:33673806 8714363 Mybpc3 myosin binding protein C3 gene DOID:9006205 Animal Disease Models ISO RGD:1314284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25566086 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007 sudden infant death syndrome ISO RGD:1314284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:11499718|PMID:11499719|PMID:12707239|PMID:15519027|PMID:21959974|PMID:24033266|PMID:24510615|PMID:24793961|PMID:25741868|PMID:26914223|PMID:27532257|PMID:28492532|PMID:29121657|PMID:30165862|PMID:31028938|PMID:35027292|PMID:35581137|PMID:9048664|PMID:9562578 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1314284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction | ClinVar Annotator: match by term: Ventricular extrasystoles PMID:11499718|PMID:11815426|PMID:12110947|PMID:12707239|PMID:12818575|PMID:12974739|PMID:15519027|PMID:16199542|PMID:16858239|PMID:17576681|PMID:20045868|PMID:203979|PMID:20433692|PMID:20435227|PMID:20800588|PMID:23283745|PMID:23782526|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27600940|PMID:28138913|PMID:28492532|PMID:28615295|PMID:28679633|PMID:2943217|PMID:30645170|PMID:30775854|PMID:31028938|PMID:9536098 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1314284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS PMID:11499718|PMID:12202917|PMID:15519027|PMID:203962|PMID:20474083|PMID:20864638|PMID:23549607|PMID:24033266|PMID:24510615|PMID:25031304|PMID:25714468|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875314|PMID:7493025 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:1314284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation PMID:12818575|PMID:14563344|PMID:15114369|PMID:15519027|PMID:20215591|PMID:22194935|PMID:22958901|PMID:23299917|PMID:23418287|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:29367541|PMID:29540472|PMID:32880476 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007820 Sudden Death ISO RGD:1314284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death 8714363 Mybpc3 myosin binding protein C3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1314284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20435227 8714420 Sypl2 synaptophysin like 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8714420 Sypl2 synaptophysin like 2 gene DOID:12849 autistic disorder ISO RGD:1603517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8714420 Sypl2 synaptophysin like 2 gene DOID:630 genetic disease ISO RGD:1603517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714452 Faap100 FA core complex associated protein 100 gene DOID:630 genetic disease ISO RGD:1604593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:0060417 3p deletion syndrome ISO RGD:69004 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:10584 retinitis pigmentosa ISO RGD:62205 D RGD:9068941 20220825 MouseDO OMIM:268000 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:11372 megacolon ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:4752 multiple system atrophy ISO RGD:62205 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:4752 multiple system atrophy ISO RGD:69004 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:630 genetic disease ISO RGD:69004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:8466 retinal degeneration ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:31345061|PMID:31903486 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:9004496 Hypertaurinuric Cardiomyopathy ISO RGD:69004 D RGD:7240710 20210707 OMIM 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:9004496 Hypertaurinuric Cardiomyopathy ISO RGD:69004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertaurinuric cardiomyopathy PMID:25741868|PMID:31345061|PMID:31903486 8714476 Slc6a6 solute carrier family 6 member 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:69004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8714507 Ing3 inhibitor of growth family member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8714507 Ing3 inhibitor of growth family member 3 gene DOID:630 genetic disease ISO RGD:1321527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714507 Ing3 inhibitor of growth family member 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1310556 D RGD:9068941 20200609 RGD PMID:25156538|REF_RGD_ID:9587823 8714532 Dxo decapping exoribonuclease gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1348619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8714532 Dxo decapping exoribonuclease gene DOID:630 genetic disease ISO RGD:1348619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714546 Cst7 cystatin F gene DOID:0080600 COVID-19 ISO RGD:1342542 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8714546 Cst7 cystatin F gene DOID:630 genetic disease ISO RGD:1342542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714546 Cst7 cystatin F gene DOID:9000217 Stomach Neoplasms ISO RGD:1342542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:0080600 COVID-19 ISO RGD:1604266 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:0112138 primary coenzyme Q10 deficiency 9 ISO RGD:1604266 D RGD:7240710 20200930 OMIM 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:0112138 primary coenzyme Q10 deficiency 9 ISO RGD:1604266 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9 PMID:25741868|PMID:29044765 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:1059 intellectual disability ISO RGD:1604266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8714554 Coq5 coenzyme Q5, methyltransferase gene DOID:630 genetic disease ISO RGD:1604266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:13938 amenorrhea ISO RGD:1601996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8714568 Stap2 signal transducing adaptor family member 2 gene DOID:630 genetic disease ISO RGD:1601996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1351951 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:630 genetic disease ISO RGD:1351951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:6420 pulmonary valve stenosis ISO RGD:1351951 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:8445 intestinal volvulus ISO RGD:1351951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8714588 Timm21 translocase of inner mitochondrial membrane 21 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1351951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8714607 Dennd1c DENN domain containing 1C gene DOID:0080490 mucolipidosis type IV ISO RGD:1345609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8714607 Dennd1c DENN domain containing 1C gene DOID:630 genetic disease ISO RGD:1345609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714643 Znf394 zinc finger protein 394 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8714643 Znf394 zinc finger protein 394 gene DOID:630 genetic disease ISO RGD:1354133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714690 Ttc29 tetratricopeptide repeat domain 29 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1605320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 8714690 Ttc29 tetratricopeptide repeat domain 29 gene DOID:0111923 spermatogenic failure 42 ISO RGD:1605320 D RGD:7240710 20200226 OMIM 8714690 Ttc29 tetratricopeptide repeat domain 29 gene DOID:0111923 spermatogenic failure 42 ISO RGD:1605320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 42 PMID:31735292|PMID:31735294 8714690 Ttc29 tetratricopeptide repeat domain 29 gene DOID:630 genetic disease ISO RGD:1605320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714706 Map4k1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305463 D RGD:9068941 20200609 RGD PMID:18382279|PMID:18498770|REF_RGD_ID:7495845|REF_RGD_ID:7495847 8714706 Map4k1 mitogen-activated protein kinase kinase kinase kinase 1 gene DOID:630 genetic disease ISO RGD:1313504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714741 Stoml2 stomatin like 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1317972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1317972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1317972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:2773 contact dermatitis ISO RGD:1317972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8714741 Stoml2 stomatin like 2 gene DOID:630 genetic disease ISO RGD:1317972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714741 Stoml2 stomatin like 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317972 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8714741 Stoml2 stomatin like 2 gene DOID:9870 galactosemia ISO RGD:1317972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8714770 Ggn gametogenetin gene DOID:630 genetic disease ISO RGD:1315571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714770 Ggn gametogenetin gene DOID:9002042 Spermatogenic Failure 69 ISO RGD:1315571 D RGD:7240710 20220427 OMIM 8714770 Ggn gametogenetin gene DOID:9002042 Spermatogenic Failure 69 ISO RGD:1315571 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 69 PMID:31985809|PMID:33108537 8714779 Ccdc116 coiled-coil domain containing 116 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 8714779 Ccdc116 coiled-coil domain containing 116 gene DOID:11198 DiGeorge syndrome ISO RGD:1602289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8714779 Ccdc116 coiled-coil domain containing 116 gene DOID:1324 lung cancer ISO RGD:1602289 D RGD:9068941 20220721 RGD DNA:SNP:promoter:rs3747093 (human) PMID:29193083|REF_RGD_ID:153297750 8714779 Ccdc116 coiled-coil domain containing 116 gene DOID:630 genetic disease ISO RGD:1602289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714804 Mob3a MOB kinase activator 3A gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1317819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8714804 Mob3a MOB kinase activator 3A gene DOID:5339 cyclic hematopoiesis ISO RGD:1317819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8714804 Mob3a MOB kinase activator 3A gene DOID:630 genetic disease ISO RGD:1317819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714804 Mob3a MOB kinase activator 3A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8714804 Mob3a MOB kinase activator 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8714822 Pxmp2 peroxisomal membrane protein 2 gene DOID:630 genetic disease ISO RGD:1347054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714822 Pxmp2 peroxisomal membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:1347054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0070002 3-methylglutaconic aciduria type 9 ISO RGD:1606193 D RGD:7240710 20190315 OMIM 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0070002 3-methylglutaconic aciduria type 9 ISO RGD:1606193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 9 | ClinVar Annotator: match by term: TIMM50-related condition PMID:25741868|PMID:27573165|PMID:28492532|PMID:30190335|PMID:31058414|PMID:32369862 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1606193 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:2340 craniosynostosis ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:630 genetic disease ISO RGD:1606193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30765764|PMID:31058414|PMID:9536098 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1606193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalopathy PMID:25741868|PMID:30190335 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9269 maple syrup urine disease ISO RGD:1606193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8714840 Timm50 translocase of inner mitochondrial membrane 50 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8714855 Stx7 syntaxin 7 gene DOID:630 genetic disease ISO RGD:737314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:630 genetic disease ISO RGD:68505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:8398 osteoarthritis ISO RGD:68505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8714882 Pdcd6ip programmed cell death 6 interacting protein gene DOID:9003562 Primary Autosomal Recessive Microcephaly 29 ISO RGD:68505 D RGD:7240710 20221012 OMIM 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:733817 D RGD:9068941 20220825 MouseDO 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:0050700 cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17254821|PMID:24033266|PMID:25741868|PMID:28492532 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12849 autistic disorder ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:9536098 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:9536098 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:9536098 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:34802252|PMID:9536098 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351346 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:33996946|PMID:34802252|PMID:9536098 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1351346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:630 genetic disease ISO RGD:1351346 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:34802252 8714909 Pdlim3 PDZ and LIM domain 3 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1351346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:0080001 bone disease ISO RGD:11008 D RGD:9068941 20220825 MouseDO 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:10763 hypertension ISO RGD:731641 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-55C>A (human) PMID:12872042|REF_RGD_ID:1580175 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:17 musculoskeletal system disease ISO RGD:11008 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation, nonsense mutation:cds:c.195_232del, c.283C>T, c.502C>A (mouse) PMID:10468599|REF_RGD_ID:1580774 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:630 genetic disease ISO RGD:731641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:8947 diabetic retinopathy ISO RGD:3196 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (rat) PMID:15789000|REF_RGD_ID:1580773 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9002060 BOUDIN-MORTIER SYNDROME ISO RGD:731641 D RGD:7240710 20211020 OMIM 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9002060 BOUDIN-MORTIER SYNDROME ISO RGD:731641 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Boudin-Mortier syndrome PMID:24559625|PMID:25741868|PMID:30032985 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9004657 Weight Gain ISO RGD:731641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8714948 Npr3 natriuretic peptide receptor 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3196 D RGD:9068941 20200609 RGD PMID:15337698|REF_RGD_ID:1580149 8714964 Dgka diacylglycerol kinase alpha gene DOID:630 genetic disease ISO RGD:732760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8714999 Dtna dystrobrevin alpha gene DOID:0050700 cardiomyopathy ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:1059 intellectual disability ISO RGD:1343196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8714999 Dtna dystrobrevin alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30086531|PMID:31568572 8714999 Dtna dystrobrevin alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:630 genetic disease ISO RGD:1343196 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1343196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:21520333|PMID:25741868|PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532 8714999 Dtna dystrobrevin alpha gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1343196 D RGD:7240710 20180425 OMIM 8714999 Dtna dystrobrevin alpha gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1343196 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:11238270|PMID:16199547|PMID:17576681|PMID:21520333|PMID:23861362|PMID:24014171|PMID:24033266|PMID:25305078|PMID:25741868|PMID:26498160|PMID:28166811|PMID:28492532|PMID:29118297|PMID:29247119|PMID:29875424|PMID:30086531|PMID:31568572|PMID:32746448|PMID:33500567|PMID:33789662|PMID:35148685|PMID:9536098 8714999 Dtna dystrobrevin alpha gene DOID:9849 Meniere's disease ISO RGD:1343196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25305078|PMID:25741868|PMID:28492532 8715082 Znf282 zinc finger protein 282 gene DOID:630 genetic disease ISO RGD:1314806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715103 Oxnad1 oxidoreductase NAD binding domain containing 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1603935 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8715103 Oxnad1 oxidoreductase NAD binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1603935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715118 Abi1 abl interactor 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1604650 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome PMID:25741868 8715118 Abi1 abl interactor 1 gene DOID:630 genetic disease ISO RGD:1604650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715118 Abi1 abl interactor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323267 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1323267 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1323267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8715172 Rhobtb3 Rho related BTB domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323267 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8715189 Pde6c phosphodiesterase 6C gene DOID:0050572 cone-rod dystrophy ISO RGD:1320406 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:28492532 8715189 Pde6c phosphodiesterase 6C gene DOID:0050795 cone dystrophy ISO RGD:1320406 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:36909829 8715189 Pde6c phosphodiesterase 6C gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1320406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 8715189 Pde6c phosphodiesterase 6C gene DOID:13911 achromatopsia ISO RGD:1320406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:10393054|PMID:16199547|PMID:17576681|PMID:18614542|PMID:19615668|PMID:19887631|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28041643|PMID:28492532|PMID:28704108|PMID:30080950|PMID:33001157|PMID:33546218|PMID:9536098 8715189 Pde6c phosphodiesterase 6C gene DOID:630 genetic disease ISO RGD:1320406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8715189 Pde6c phosphodiesterase 6C gene DOID:670 amphetamine abuse ISO RGD:1320406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8715189 Pde6c phosphodiesterase 6C gene DOID:8501 fundus dystrophy ISO RGD:1320406 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:19887631|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30080950 8715189 Pde6c phosphodiesterase 6C gene DOID:9007377 Achromatopsia 5 ISO RGD:1320406 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia 5 PMID:16199547|PMID:19615668|PMID:19887631|PMID:21127010|PMID:23776498|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30080950 8715189 Pde6c phosphodiesterase 6C gene DOID:9008296 Eye Abnormalities ISO RGD:1320406 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 8715189 Pde6c phosphodiesterase 6C gene DOID:9008571 Cone Dystrophy 4 ISO RGD:1320406 D RGD:7240710 20180130 OMIM 8715189 Pde6c phosphodiesterase 6C gene DOID:9008571 Cone Dystrophy 4 ISO RGD:1320406 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition PMID:10393054|PMID:16199547|PMID:17576681|PMID:18614542|PMID:19615668|PMID:19887631|PMID:20301591|PMID:21127010|PMID:23776498|PMID:25326637|PMID:25741868|PMID:26103963|PMID:27124789|PMID:28041643|PMID:28492532|PMID:30080950|PMID:31964843|PMID:32913385|PMID:33001157|PMID:33546218|PMID:9536098 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0111112 nephronophthisis 1 ISO RGD:1319942 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0111481 combined oxidative phosphorylation deficiency 11 ISO RGD:1319942 D RGD:7240710 20180130 OMIM 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:0111481 combined oxidative phosphorylation deficiency 11 ISO RGD:1319942 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11 PMID:18835491|PMID:23022098|PMID:23022099|PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:29071585|PMID:31506229|PMID:31568715|PMID:31981491|PMID:32576985 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:12712 nephronophthisis ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:31506229|PMID:31568715|PMID:32576985 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:630 genetic disease ISO RGD:1319942 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25058219|PMID:25741868|PMID:27412952|PMID:28492532|PMID:29071585 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:700 mitochondrial metabolism disease ISO RGD:1319942 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:23022098|PMID:24033266|PMID:25058219|PMID:25326635|PMID:25604853|PMID:25741868|PMID:26395190|PMID:27159321|PMID:27350610|PMID:27412952|PMID:27843092|PMID:28492532|PMID:29071585|PMID:31506229|PMID:31568715|PMID:32576985 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:9006534 Nervous System Malformations ISO RGD:1319942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18835491|PMID:23022099|PMID:25741868 8715218 Rmnd1 required for meiotic nuclear division 1 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1319942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8715245 Zfc3h1 zinc finger C3H1-type containing gene DOID:630 genetic disease ISO RGD:1606690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715245 Zfc3h1 zinc finger C3H1-type containing gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1606690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8715245 Zfc3h1 zinc finger C3H1-type containing gene DOID:9007661 Dwarfism ISO RGD:1606690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731757 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:0080384 nephrotic syndrome type 6 ISO RGD:731757 D RGD:7240710 20180130 OMIM 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:0080384 nephrotic syndrome type 6 ISO RGD:731757 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 6 PMID:21722858|PMID:25741868|PMID:28492532 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:0080600 COVID-19 ISO RGD:731757 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:1909 melanoma ISO RGD:731757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:630 genetic disease ISO RGD:731757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8715298 Ptpro protein tyrosine phosphatase receptor type O gene DOID:9007188 Liver Neoplasms ISO RGD:731757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:20163174 8715336 Perp p53 apoptosis effector related to PMP22 gene DOID:630 genetic disease ISO RGD:1321113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715336 Perp p53 apoptosis effector related to PMP22 gene DOID:9000198 Erythrokeratodermia Variabilis et Progressiva 7 ISO RGD:1321113 D RGD:7240710 20210303 OMIM 8715336 Perp p53 apoptosis effector related to PMP22 gene DOID:9000198 Erythrokeratodermia Variabilis et Progressiva 7 ISO RGD:1321113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 7 PMID:30321533|PMID:31898316 8715336 Perp p53 apoptosis effector related to PMP22 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1321113 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8715336 Perp p53 apoptosis effector related to PMP22 gene DOID:9008575 Olmsted Syndrome 2 ISO RGD:1321113 D RGD:7240710 20210303 OMIM 8715336 Perp p53 apoptosis effector related to PMP22 gene DOID:9008575 Olmsted Syndrome 2 ISO RGD:1321113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 2 PMID:30321533|PMID:31361044 8715346 Znf275 zinc finger protein 275 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8715346 Znf275 zinc finger protein 275 gene DOID:12849 autistic disorder ISO RGD:1347058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:630 genetic disease ISO RGD:1321929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:9002075 Saccharopinuria ISO RGD:1321929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Saccharopinuria PMID:25741868|PMID:28492532 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:9274 hyperlysinemia ISO RGD:1321929 D RGD:7240710 20180130 OMIM 8715372 Aass aminoadipate-semialdehyde synthase gene DOID:9274 hyperlysinemia ISO RGD:1321929 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hyperlysinemia PMID:10775527|PMID:23570448|PMID:23890588|PMID:25741868|PMID:28492532|PMID:36983702|PMID:934735 8715403 Cdk18 cyclin dependent kinase 18 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8715403 Cdk18 cyclin dependent kinase 18 gene DOID:12849 autistic disorder ISO RGD:1319906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8715403 Cdk18 cyclin dependent kinase 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1319906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8715403 Cdk18 cyclin dependent kinase 18 gene DOID:630 genetic disease ISO RGD:1319906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715403 Cdk18 cyclin dependent kinase 18 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319906 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8715403 Cdk18 cyclin dependent kinase 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:1059 intellectual disability ISO RGD:1605259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:2746 glycogen storage disease V ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:630 genetic disease ISO RGD:1605259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8715438 Peli3 pellino E3 ubiquitin protein ligase family member 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8715454 Akap1 A-kinase anchoring protein 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343676 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8715454 Akap1 A-kinase anchoring protein 1 gene DOID:10283 prostate cancer ISO RGD:1343676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8715454 Akap1 A-kinase anchoring protein 1 gene DOID:2316 brain ischemia ISO RGD:620826 D RGD:9068941 20200609 RGD protein:altered expression:parietal cortex, hippocampus (rat) PMID:18323779|REF_RGD_ID:2313128 8715454 Akap1 A-kinase anchoring protein 1 gene DOID:630 genetic disease ISO RGD:1343676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715454 Akap1 A-kinase anchoring protein 1 gene DOID:9970 obesity ISO RGD:1343676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 8715479 Itgb2 integrin subunit beta 2 gene DOID:0040084 Streptococcus pneumonia susceptibility ISO RGD:1313695 D RGD:9068941 20210709 RGD PMID:11390487|REF_RGD_ID:127345090 8715479 Itgb2 integrin subunit beta 2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1313694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 8715479 Itgb2 integrin subunit beta 2 gene DOID:0060180 colitis ISO RGD:1313695 D RGD:9068941 20200609 RGD associated with Spirochaetales infections PMID:11031123|REF_RGD_ID:6482227 8715479 Itgb2 integrin subunit beta 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 8715479 Itgb2 integrin subunit beta 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8715479 Itgb2 integrin subunit beta 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8715479 Itgb2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1313694 D RGD:7240710 20180130 OMIM 8715479 Itgb2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1313694 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 PMID:10886250|PMID:11703376|PMID:11882363|PMID:12377933|PMID:12488604|PMID:1346132|PMID:1346613|PMID:1347532|PMID:1590804|PMID:16199547|PMID:16595236|PMID:1694220|PMID:17576681|PMID:17875809|PMID:18675632|PMID:19171538|PMID:1968911|PMID:20549317|PMID:20807363|PMID:21103413|PMID:21195692|PMID:22134107|PMID:24033266|PMID:24338230|PMID:25135596|PMID:25514840|PMID:25703682|PMID:25741868|PMID:25858935|PMID:26497373|PMID:26639818|PMID:27492259|PMID:28445705|PMID:28492532|PMID:30041527|PMID:30412664|PMID:30919141|PMID:32279896|PMID:33391282|PMID:36353617|PMID:6142255|PMID:7143170|PMID:7686755|PMID:7705401|PMID:9536098|PMID:9884339 8715479 Itgb2 integrin subunit beta 2 gene DOID:0110910 leukocyte adhesion deficiency 1 susceptibility ISO RGD:1313694 D RGD:9068941 20210702 RGD DNA:polymorphisms:multiple (human) PMID:20549317|REF_RGD_ID:6482224 8715479 Itgb2 integrin subunit beta 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1313694 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:25741868 8715479 Itgb2 integrin subunit beta 2 gene DOID:10952 nephritis treatment ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:8773354|REF_RGD_ID:8547716 8715479 Itgb2 integrin subunit beta 2 gene DOID:1205 allergic disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8715479 Itgb2 integrin subunit beta 2 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1313694 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:21297967|REF_RGD_ID:6482200 8715479 Itgb2 integrin subunit beta 2 gene DOID:12849 autistic disorder ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8715479 Itgb2 integrin subunit beta 2 gene DOID:13241 Behcet's disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8712863 8715479 Itgb2 integrin subunit beta 2 gene DOID:182 calcinosis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8715479 Itgb2 integrin subunit beta 2 gene DOID:2527 nephrosis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12845231 8715479 Itgb2 integrin subunit beta 2 gene DOID:2723 dermatitis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9653089 8715479 Itgb2 integrin subunit beta 2 gene DOID:2921 glomerulonephritis ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:15277234|PMID:19752320|REF_RGD_ID:6907051|REF_RGD_ID:6907066 8715479 Itgb2 integrin subunit beta 2 gene DOID:2938 Epstein-Barr virus infectious disease ISO RGD:1313694 D RGD:9068941 20210702 RGD associated with Hodgkin's lymphoma;mRNA, protein:increased expression:lymph node (human) PMID:25041527|REF_RGD_ID:127285814 8715479 Itgb2 integrin subunit beta 2 gene DOID:4079 heart valve disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8715479 Itgb2 integrin subunit beta 2 gene DOID:4247 coronary restenosis ISO RGD:1313694 D RGD:9068941 20200609 RGD PMID:11703955|REF_RGD_ID:1581185 8715479 Itgb2 integrin subunit beta 2 gene DOID:4481 allergic rhinitis treatment ISO RGD:1305581 D RGD:9068941 20210709 RGD PMID:12046991|REF_RGD_ID:9698435 8715479 Itgb2 integrin subunit beta 2 gene DOID:4989 pancreatitis ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:22490516|REF_RGD_ID:6482196 8715479 Itgb2 integrin subunit beta 2 gene DOID:552 pneumonia ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:10030843|REF_RGD_ID:6482228 8715479 Itgb2 integrin subunit beta 2 gene DOID:552 pneumonia ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8715479 Itgb2 integrin subunit beta 2 gene DOID:630 genetic disease ISO RGD:1313694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10886250|PMID:11703376|PMID:12488604|PMID:1346132|PMID:17875809|PMID:22134107|PMID:25514840|PMID:25703682|PMID:25741868|PMID:28492532|PMID:30412664|PMID:7143170|PMID:7686755|PMID:7705401 8715479 Itgb2 integrin subunit beta 2 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 8715479 Itgb2 integrin subunit beta 2 gene DOID:820 myocarditis ISO RGD:1313694 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9556870|REF_RGD_ID:13702915 8715479 Itgb2 integrin subunit beta 2 gene DOID:8283 peritonitis ameliorates ISO RGD:620535 D RGD:9068941 20210709 RGD PMID:18239087|REF_RGD_ID:127345091 8715479 Itgb2 integrin subunit beta 2 gene DOID:8549 chronic ulcer of skin ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9653089 8715479 Itgb2 integrin subunit beta 2 gene DOID:8893 psoriasis ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:19812597|REF_RGD_ID:6482221 8715479 Itgb2 integrin subunit beta 2 gene DOID:8893 psoriasis ISO RGD:1313695 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 8715479 Itgb2 integrin subunit beta 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313694 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8715479 Itgb2 integrin subunit beta 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1313694 D RGD:9068941 20200609 RGD mRNA:increased expression:artery PMID:26188538|REF_RGD_ID:11085957 8715479 Itgb2 integrin subunit beta 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1313694 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 8715479 Itgb2 integrin subunit beta 2 gene DOID:9001341 Chloracne ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8715479 Itgb2 integrin subunit beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8715479 Itgb2 integrin subunit beta 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1313694 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8715479 Itgb2 integrin subunit beta 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:11907109|REF_RGD_ID:6907072 8715479 Itgb2 integrin subunit beta 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:8881759|REF_RGD_ID:6482229 8715479 Itgb2 integrin subunit beta 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:18615643|REF_RGD_ID:6482197 8715479 Itgb2 integrin subunit beta 2 gene DOID:9002805 Enterocolitis ISO RGD:1313694 D RGD:9068941 20200609 RGD associated with Hirschsprung Disease;DNA:polymorphisms:multiple PMID:18675632|REF_RGD_ID:6482226 8715479 Itgb2 integrin subunit beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8715479 Itgb2 integrin subunit beta 2 gene DOID:9004610 Acute Lung Injury ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:1374449|REF_RGD_ID:6482199 8715479 Itgb2 integrin subunit beta 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1305581 D RGD:9068941 20200609 RGD PMID:11007822|REF_RGD_ID:6907073 8715479 Itgb2 integrin subunit beta 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1313694 D RGD:9068941 20200609 RGD Associated with renal transplant patients PMID:20504838|REF_RGD_ID:6907049 8715479 Itgb2 integrin subunit beta 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 8715479 Itgb2 integrin subunit beta 2 gene DOID:9009184 Eosinophilic Myocarditis treatment ISO RGD:1313695 D RGD:9068941 20200609 RGD PMID:9822282|REF_RGD_ID:13702914 8715479 Itgb2 integrin subunit beta 2 gene DOID:9065 leishmaniasis ameliorates ISO RGD:1313695 D RGD:9068941 20210702 RGD PMID:14502280|REF_RGD_ID:127285813 8715479 Itgb2 integrin subunit beta 2 gene DOID:9263 homocystinuria ISO RGD:1313694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8715479 Itgb2 integrin subunit beta 2 gene DOID:9498 pulmonary eosinophilia ISO RGD:1313695 D RGD:9068941 20210709 RGD protein:increased expression:lung (mouse) PMID:7743671|REF_RGD_ID:8547590 8715479 Itgb2 integrin subunit beta 2 gene DOID:9500 leukocyte disease ISO RGD:1313694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2880869|PMID:9653089 8715479 Itgb2 integrin subunit beta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313694 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8715509 CUNH22orf23 chromosome unknown C22orf23 homolog gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8715509 CUNH22orf23 chromosome unknown C22orf23 homolog gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1351784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8715509 CUNH22orf23 chromosome unknown C22orf23 homolog gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8715509 CUNH22orf23 chromosome unknown C22orf23 homolog gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8715509 CUNH22orf23 chromosome unknown C22orf23 homolog gene DOID:630 genetic disease ISO RGD:1351784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715528 Otoa otoancorin gene DOID:0050439 Usher syndrome ISO RGD:1348640 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:23173898|PMID:24033266|PMID:25741868|PMID:28492532 8715528 Otoa otoancorin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:23173898|PMID:24033266|PMID:28492532|PMID:30303587 8715528 Otoa otoancorin gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1348640 D RGD:7240710 20180130 OMIM 8715528 Otoa otoancorin gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1348640 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition PMID:11972037|PMID:16199547|PMID:17576681|PMID:19888295|PMID:23173898|PMID:23690975|PMID:24033266|PMID:24963352|PMID:25373420|PMID:25741868|PMID:26434960|PMID:26969326|PMID:27068579|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30740825|PMID:30828794|PMID:31152317|PMID:31527525|PMID:31827275|PMID:33492714|PMID:33597575|PMID:33879512|PMID:34175691|PMID:34416374|PMID:35802133|PMID:36633841|PMID:37114731|PMID:9536098 8715528 Otoa otoancorin gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1348640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 7 PMID:35802133|PMID:36633841 8715528 Otoa otoancorin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 8715528 Otoa otoancorin gene DOID:630 genetic disease ISO RGD:1348640 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532 8715528 Otoa otoancorin gene DOID:9004538 Hearing Loss ISO RGD:1348640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:30311386 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1323698 D RGD:7240710 20180307 OMIM 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1323698 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects PMID:16199547|PMID:17576681|PMID:20335603|PMID:21763480|PMID:24668659|PMID:25326635|PMID:25741868|PMID:25893793|PMID:26633542|PMID:26754439|PMID:27271787|PMID:27871226|PMID:28229453|PMID:28492532|PMID:31196143|PMID:31438591|PMID:31988067|PMID:9536098 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1323698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20335603|PMID:28492532 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1323698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:630 genetic disease ISO RGD:1323698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8715599 B3gat3 beta-1,3-glucuronyltransferase 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:1824 status epilepticus ISO RGD:1307098 D RGD:9068941 20201218 RGD mRNA, protein:decreased expression:white matter of cerebral lobe PMID:31415741|REF_RGD_ID:40902837 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:630 genetic disease ISO RGD:1316088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11337472|PMID:27479843 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1307098 D RGD:9068941 20201218 RGD PMID:22173726|REF_RGD_ID:40902844 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1316089 D RGD:9068941 20201218 RGD PMID:28452182|REF_RGD_ID:40902836 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316088 D RGD:9068941 20201211 RGD associated with breast cancer PMID:27340107|REF_RGD_ID:40902824 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1307098 D RGD:9068941 20201218 RGD PMID:29682587|REF_RGD_ID:40902863 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1316089 D RGD:9068941 20201211 RGD PMID:24941845|REF_RGD_ID:40902822 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:1316088 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9009105 HIV Encephalitis ISO RGD:1316088 D RGD:9068941 20201211 RGD PMID:15579294|REF_RGD_ID:40902823 8715608 Olig2 oligodendrocyte transcription factor 2 gene DOID:9790 toxocariasis ISO RGD:1316089 D RGD:9068941 20201211 RGD PMID:25773181|REF_RGD_ID:40902825 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321051 D RGD:7240710 20180130 OMIM 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:10024875|PMID:11809908|PMID:14566336|PMID:16199547|PMID:16507770|PMID:16537806|PMID:16551969|PMID:17576681|PMID:23265383|PMID:23403622|PMID:24033266|PMID:25741868|PMID:25980904|PMID:27781387|PMID:28492532|PMID:31898847|PMID:32935436|PMID:8042664|PMID:9536098 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:10283 prostate cancer ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:1227 neutropenia ISO RGD:1321051 D RGD:9068941 20200609 RGD PMID:12125811|REF_RGD_ID:1578409 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:32935436 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1321052 D RGD:9068941 20220825 MouseDO OMIM:185050 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1321051 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:3082 interstitial lung disease ISO RGD:1321051 D RGD:9068941 20200609 RGD associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human) PMID:22009278|REF_RGD_ID:11096518 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:16507770|PMID:23403622|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1321051 D RGD:9068941 20200609 RGD PMID:12125811|REF_RGD_ID:1578409 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:12137585 D RGD:9068941 20230921 OMIA Neutropenia, cyclic PMID:1013155|PMID:1167851|PMID:1251140|PMID:1259228|PMID:12750178|PMID:127610|PMID:12897784|PMID:1379221|PMID:15059607|PMID:15576359|PMID:16610934|PMID:1699776|PMID:17053055|PMID:173440|PMID:1893969|PMID:18951469|PMID:19208418|PMID:19941936|PMID:2172633|PMID:22285163|PMID:22845776|PMID:2458781|PMID:2830927|PMID:2945680|PMID:2979797|PMID:3026784|PMID:3181344|PMID:336117|PMID:347941|PMID:3491636|PMID:351627|PMID:35904319|PMID:3607647|PMID:37673175|PMID:3996494|PMID:4170467|PMID:438337|PMID:4430726|PMID:4587264|PMID:4591036|PMID:4612548|PMID:4703853|PMID:47249|PMID:4795953|PMID:4796766|PMID:4834515|PMID:5054471|PMID:5054472|PMID:5366324|PMID:5529685|PMID:5534257|PMID:5581910|PMID:568046|PMID:6067150|PMID:6096876|PMID:6506453|PMID:6759148|PMID:6803622|PMID:6837566|PMID:6846503|PMID:6853718|PMID:686147|PMID:6884440|PMID:6972315|PMID:6976196|PMID:7011123|PMID:7059519|PMID:7060078|PMID:7066210|PMID:710550|PMID:719169|PMID:7281477|PMID:7350939|PMID:738429|PMID:738763|PMID:7405719|PMID:7474871|PMID:7519075|PMID:7528575|PMID:8737267|PMID:955040|PMID:995965 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8715614 Ap3b1 adaptor related protein complex 3 subunit beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8715651 Mmp27 matrix metallopeptidase 27 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 8715651 Mmp27 matrix metallopeptidase 27 gene DOID:1059 intellectual disability ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8715651 Mmp27 matrix metallopeptidase 27 gene DOID:12704 ataxia telangiectasia ISO RGD:1315373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8715651 Mmp27 matrix metallopeptidase 27 gene DOID:630 genetic disease ISO RGD:1315373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715665 Dcp2 decapping mRNA 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8715665 Dcp2 decapping mRNA 2 gene DOID:630 genetic disease ISO RGD:1349747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715665 Dcp2 decapping mRNA 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8715665 Dcp2 decapping mRNA 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8715665 Dcp2 decapping mRNA 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8715687 Rap1gds1 Rap1 GTPase-GDP dissociation stimulator 1 gene DOID:630 genetic disease ISO RGD:1318400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715687 Rap1gds1 Rap1 GTPase-GDP dissociation stimulator 1 gene DOID:9003388 ALFADHEL SYNDROME ISO RGD:1318400 D RGD:7240710 20240117 OMIM 8715687 Rap1gds1 Rap1 GTPase-GDP dissociation stimulator 1 gene DOID:9003388 ALFADHEL SYNDROME ISO RGD:1318400 D RGD:8554872 20240123 ClinVar ClinVar Annotator: match by term: Alfadhel syndrome PMID:32431071|PMID:33875846 8715715 Fbxl3 F-box and leucine rich repeat protein 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1343078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8715715 Fbxl3 F-box and leucine rich repeat protein 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 8715715 Fbxl3 F-box and leucine rich repeat protein 3 gene DOID:630 genetic disease ISO RGD:1343078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715715 Fbxl3 F-box and leucine rich repeat protein 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:18414213|PMID:24767253|PMID:25741868|PMID:28492532 8715715 Fbxl3 F-box and leucine rich repeat protein 3 gene DOID:9005631 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS ISO RGD:1343078 D RGD:7240710 20190424 OMIM 8715715 Fbxl3 F-box and leucine rich repeat protein 3 gene DOID:9005631 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS ISO RGD:1343078 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, short stature, facial anomalies, and joint dislocations PMID:11477608|PMID:25741868|PMID:30481285 8715726 Sdhaf3 succinate dehydrogenase complex assembly factor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8715726 Sdhaf3 succinate dehydrogenase complex assembly factor 3 gene DOID:630 genetic disease ISO RGD:1313002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1321347 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1321347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:1657 ventricular septal defect ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:1321347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:6406 double outlet right ventricle ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9003191 Vascular Malformations ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9007023 Prenatal Injuries ISO RGD:1321347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478334 8715733 Yes1 YES proto-oncogene 1, Src family tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1550106 D RGD:9068941 20230429 RGD mRNA,protein:increased expression:myocardium (mouse) PMID:30259997|REF_RGD_ID:329337366 8715752 Rspo2 R-spondin 2 gene DOID:0112193 tetraamelia syndrome 2 ISO RGD:1603855 D RGD:7240710 20190605 OMIM 8715752 Rspo2 R-spondin 2 gene DOID:0112193 tetraamelia syndrome 2 ISO RGD:1603855 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tetraamelia syndrome 2 PMID:25741868|PMID:28492532|PMID:29769720 8715752 Rspo2 R-spondin 2 gene DOID:630 genetic disease ISO RGD:1603855 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8715752 Rspo2 R-spondin 2 gene DOID:9002753 Humerofemoral Hypoplasia with Radiotibial Ray Deficiency ISO RGD:1603855 D RGD:7240710 20190717 OMIM 8715752 Rspo2 R-spondin 2 gene DOID:9002753 Humerofemoral Hypoplasia with Radiotibial Ray Deficiency ISO RGD:1603855 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Humerofemoral hypoplasia with radiotibial ray deficiency PMID:25741868|PMID:28492532|PMID:29769720 8715762 Higd1a HIG1 hypoxia inducible domain family member 1A gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1603666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8715762 Higd1a HIG1 hypoxia inducible domain family member 1A gene DOID:630 genetic disease ISO RGD:1603666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715785 Sap30 Sin3A associated protein 30 gene DOID:0080600 COVID-19 ISO RGD:1354225 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8715785 Sap30 Sin3A associated protein 30 gene DOID:630 genetic disease ISO RGD:1354225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715785 Sap30 Sin3A associated protein 30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3681 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:13580 cholestasis treatment ISO RGD:3681 D RGD:9068941 20200609 RGD PMID:29655695|REF_RGD_ID:15090803 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:13580 cholestasis treatment ISO RGD:3681 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:2043 hepatitis B ISO RGD:737174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatitis B virus, resistance to PMID:14660639|PMID:25418280|PMID:27882152|PMID:28835676|PMID:29658451 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:630 genetic disease ISO RGD:737174 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:9003473 Familial Hypercholanemia 2 ISO RGD:737174 D RGD:7240710 20210414 OMIM 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:9003473 Familial Hypercholanemia 2 ISO RGD:737174 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial, 2 | ClinVar Annotator: match by term: SLC10A1-related condition PMID:14660639|PMID:24867799|PMID:25418280|PMID:25741868|PMID:27882152|PMID:28835676|PMID:29658451 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:3681 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:28827769|REF_RGD_ID:15045609 8715794 Slc10a1 solute carrier family 10 member 1 gene DOID:9970 obesity disease_progression ISO RGD:3681 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 8715803 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:0080600 COVID-19 ISO RGD:1323460 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8715803 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:37 skin disease ISO RGD:1323460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8715803 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:630 genetic disease ISO RGD:1323460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715803 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8715803 Ccrl2 C-C motif chemokine receptor like 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8715843 F2rl3 F2R like thrombin or trypsin receptor 3 gene DOID:13580 cholestasis ISO RGD:1351365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 8715843 F2rl3 F2R like thrombin or trypsin receptor 3 gene DOID:630 genetic disease ISO RGD:1351365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715843 F2rl3 F2R like thrombin or trypsin receptor 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 8715843 F2rl3 F2R like thrombin or trypsin receptor 3 gene DOID:914 peliosis hepatis ISO RGD:1351365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 8715851 Stk26 serine/threonine kinase 26 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8715851 Stk26 serine/threonine kinase 26 gene DOID:12849 autistic disorder ISO RGD:1604356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8715851 Stk26 serine/threonine kinase 26 gene DOID:630 genetic disease ISO RGD:1604356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715867 Znf644 zinc finger protein 644 gene DOID:3021 acute kidney failure ISO RGD:1604575 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36052886 8715867 Znf644 zinc finger protein 644 gene DOID:630 genetic disease ISO RGD:1604575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8715867 Znf644 zinc finger protein 644 gene DOID:9003525 Myopia 21, Autosomal Dominant ISO RGD:1604575 D RGD:7240710 20180130 OMIM 8715867 Znf644 zinc finger protein 644 gene DOID:9003525 Myopia 21, Autosomal Dominant ISO RGD:1604575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 21, autosomal dominant PMID:21695231|PMID:25741868 8715918 Frrs1 ferric chelate reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1604148 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8715918 Frrs1 ferric chelate reductase 1 gene DOID:630 genetic disease ISO RGD:1604148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715939 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:0060356 Vici syndrome ISO RGD:1349184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8715939 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1349184 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8715939 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:630 genetic disease ISO RGD:1349184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715939 St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1349184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8715958 Tmub1 transmembrane and ubiquitin like domain containing 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1349176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8715958 Tmub1 transmembrane and ubiquitin like domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1349176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8715958 Tmub1 transmembrane and ubiquitin like domain containing 1 gene DOID:630 genetic disease ISO RGD:1349176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715985 LOC102004351 NADH-cytochrome b5 reductase 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1314495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8715985 LOC102004351 NADH-cytochrome b5 reductase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1314495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8715985 LOC102004351 NADH-cytochrome b5 reductase 1 gene DOID:630 genetic disease ISO RGD:1314495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8715985 LOC102004351 NADH-cytochrome b5 reductase 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1314495 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8715985 LOC102004351 NADH-cytochrome b5 reductase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1604612 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:16199547|PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0112085 nuclear type mitochondrial complex I deficiency 19 ISO RGD:1604612 D RGD:7240710 20190315 OMIM 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:0112085 nuclear type mitochondrial complex I deficiency 19 ISO RGD:1604612 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 PMID:16199547|PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:27215383|PMID:28097321|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31434271|PMID:31589614|PMID:32573669|PMID:32964447|PMID:33613441|PMID:35628876 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604612 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28097321|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:32964447|PMID:33613441 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1604612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20818383 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1604612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20858599 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:20818383|PMID:20858599|PMID:22200994|PMID:23757202|PMID:24033266|PMID:25678554|PMID:25741868|PMID:28492532|PMID:28654958|PMID:29142257|PMID:30723688|PMID:30956948|PMID:31065540|PMID:31589614|PMID:33613441 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:9007385 Mitochondrial Encephalopathy ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalopathy PMID:25741868 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:9007661 Dwarfism ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8715999 Foxred1 FAD dependent oxidoreductase domain containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:28492532 8716014 Cabp7 calcium binding protein 7 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1348796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8716014 Cabp7 calcium binding protein 7 gene DOID:630 genetic disease ISO RGD:1348796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716014 Cabp7 calcium binding protein 7 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 8716021 Ttll4 tubulin tyrosine ligase like 4 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8716021 Ttll4 tubulin tyrosine ligase like 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8716021 Ttll4 tubulin tyrosine ligase like 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8716021 Ttll4 tubulin tyrosine ligase like 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8716021 Ttll4 tubulin tyrosine ligase like 4 gene DOID:630 genetic disease ISO RGD:1315312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716021 Ttll4 tubulin tyrosine ligase like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1318462 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:10480349|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:16098014|PMID:16126423|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25236789|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27139891|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33027564|PMID:33099109|PMID:36007526 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1318462 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:10480349|PMID:10521290|PMID:10521297|PMID:11349231|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:16098014|PMID:16126423|PMID:18216017|PMID:19744920|PMID:20301473|PMID:20521171|PMID:21436030|PMID:22505584|PMID:23430855|PMID:24928400|PMID:25149939|PMID:25236789|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25873482|PMID:26019327|PMID:26666848|PMID:27139891|PMID:27923633|PMID:28413817|PMID:28492532|PMID:28710748|PMID:28776642|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30487145|PMID:30556376|PMID:30665703|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:33027564|PMID:33099109|PMID:36007526 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:7240710 20180130 OMIM 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1318462 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form PMID:10419504|PMID:10480349|PMID:10521290|PMID:10521297|PMID:11182931|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11545687|PMID:11754101|PMID:12205649|PMID:12401890|PMID:12408188|PMID:12554680|PMID:12719428|PMID:12813037|PMID:12955717|PMID:12974729|PMID:14639697|PMID:14970192|PMID:15130691|PMID:15347664|PMID:15459971|PMID:15465421|PMID:15596783|PMID:15774455|PMID:15937921|PMID:16086131|PMID:16098014|PMID:16126423|PMID:16138904|PMID:16143556|PMID:16199547|PMID:16720792|PMID:16778374|PMID:16802107|PMID:17003072|PMID:17160617|PMID:17576681|PMID:17973331|PMID:17989072|PMID:18081003|PMID:18216017|PMID:19013089|PMID:19206179|PMID:19223215|PMID:19252935|PMID:19307542|PMID:19563754|PMID:19609713|PMID:19718781|PMID:19744920|PMID:19900398|PMID:20301473|PMID:20489167|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20826119|PMID:20882348|PMID:20981092|PMID:21245028|PMID:21436030|PMID:21550990|PMID:22065762|PMID:22269206|PMID:22326530|PMID:22476655|PMID:22505584|PMID:22676771|PMID:22704015|PMID:22750297|PMID:22995991|PMID:23142039|PMID:23146215|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23453666|PMID:23487299|PMID:23593294|PMID:23597521|PMID:23653225|PMID:23685560|PMID:23711246|PMID:23757202|PMID:23773996|PMID:23774949|PMID:23791518|PMID:23821321|PMID:24001525|PMID:24033266|PMID:24035292|PMID:24178705|PMID:24386122|PMID:24506780|PMID:24570279|PMID:24676439|PMID:24767253|PMID:24891511|PMID:24915861|PMID:24928400|PMID:25071864|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25238906|PMID:25239094|PMID:25326635|PMID:25326637|PMID:25349751|PMID:25425405|PMID:25497598|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25764212|PMID:25873482|PMID:25888393|PMID:25989649|PMID:26019327|PMID:26108224|PMID:26206375|PMID:26255038|PMID:26284228|PMID:26338816|PMID:26467025|PMID:26666848|PMID:26771826|PMID:26788393|PMID:26790753|PMID:26830282|PMID:26910362|PMID:26937389|PMID:26939636|PMID:26981555|PMID:26984608|PMID:27016452|PMID:27139891|PMID:27193329|PMID:27234403|PMID:27238017|PMID:27250337|PMID:27256227|PMID:27288778|PMID:27366019|PMID:27378690|PMID:27528516|PMID:27549128|PMID:27550898|PMID:27581084|PMID:27599728|PMID:27706244|PMID:27792009|PMID:27900365|PMID:27923633|PMID:27928380|PMID:27959697|PMID:28105569|PMID:28130309|PMID:28155026|PMID:28167839|PMID:28193631|PMID:28222799|PMID:28328115|PMID:28387450|PMID:28413817|PMID:28472934|PMID:28480683|PMID:28492532|PMID:28666962|PMID:28703315|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28802248|PMID:28808920|PMID:28865947|PMID:28883878|PMID:29100954|PMID:29165669|PMID:29197565|PMID:29429782|PMID:29453517|PMID:29476731|PMID:29631617|PMID:29971198|PMID:30019023|PMID:30119649|PMID:30153451|PMID:30202070|PMID:30285904|PMID:30487145|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30633340|PMID:30665703|PMID:30737051|PMID:30820861|PMID:30923329|PMID:30985853|PMID:31130284|PMID:31139477|PMID:31296176|PMID:31497485|PMID:31543266|PMID:31589614|PMID:31635081|PMID:31639011|PMID:3165081|PMID:31699992|PMID:31743419|PMID:31754021|PMID:31980526|PMID:32060698|PMID:32138288|PMID:32144825|PMID:32222928|PMID:32248828|PMID:32289814|PMID:32317543|PMID:32482919|PMID:32488064|PMID:32544384|PMID:32709131|PMID:32732226|PMID:32745579|PMID:32860008|PMID:32921771|PMID:32931663|PMID:33021976|PMID:33027564|PMID:33099109|PMID:33138774|PMID:33139814|PMID:33163944|PMID:33258288|PMID:33624863|PMID:3378364|PMID:33947371|PMID:33990640|PMID:34023347|PMID:34296265|PMID:34303826|PMID:34489640|PMID:34712575|PMID:35038048|PMID:35086560|PMID:35861376|PMID:35892469|PMID:36007526|PMID:36325261|PMID:37032242|PMID:4795418|PMID:5465421|PMID:9211849|PMID:9211850|PMID:9245994|PMID:9536098|PMID:9634529|PMID:9744920|PMID:9927649 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1318462 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:25741868 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:1059 intellectual disability ISO RGD:1318462 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:11077 brucellosis ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12183525 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:14504 Niemann-Pick disease ISO RGD:1553002 D RGD:9068941 20220825 MouseDO 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:1826 epilepsy ISO RGD:1318462 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:1936 atherosclerosis ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18483620 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:2725 capillary hemangioma ISO RGD:1318462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Capillary hemangioma PMID:25741868 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:409 liver disease ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24901380 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:5082 liver cirrhosis ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22216111 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:539 ophthalmoplegia ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:543 dystonia ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:26981555|PMID:28492532 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:630 genetic disease ISO RGD:1318462 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10480349|PMID:10521290|PMID:10521297|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12408188|PMID:12955717|PMID:14639697|PMID:15465421|PMID:15937921|PMID:16098014|PMID:16126423|PMID:17044092|PMID:17160617|PMID:17576681|PMID:17989072|PMID:18216017|PMID:19252935|PMID:19563754|PMID:19744920|PMID:20301473|PMID:20521171|PMID:20554533|PMID:20718790|PMID:20826119|PMID:21245028|PMID:21436030|PMID:22326530|PMID:22505584|PMID:23183285|PMID:23427322|PMID:23430855|PMID:23433426|PMID:23773996|PMID:23791518|PMID:24033266|PMID:24386122|PMID:24928400|PMID:25131710|PMID:25149939|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25590979|PMID:25637190|PMID:25741868|PMID:25764212|PMID:25873482|PMID:26019327|PMID:26255038|PMID:26666848|PMID:26790753|PMID:26939636|PMID:26981555|PMID:27193329|PMID:27238017|PMID:27250337|PMID:27792009|PMID:27923633|PMID:27928380|PMID:28105569|PMID:28130309|PMID:28193631|PMID:28222799|PMID:28413817|PMID:28492532|PMID:28710748|PMID:28776642|PMID:28784760|PMID:28865947|PMID:29476731|PMID:29631617|PMID:30019023|PMID:30153451|PMID:30285904|PMID:30487145|PMID:30552426|PMID:30556376|PMID:30609409|PMID:30665703|PMID:30820861|PMID:31130284|PMID:31589614|PMID:31639011|PMID:31980526|PMID:32138288|PMID:32222928|PMID:32248828|PMID:32709131|PMID:32745579|PMID:32860008|PMID:33099109|PMID:33138774|PMID:33990640|PMID:35861376|PMID:37032242|PMID:9211849|PMID:9211850|PMID:9536098 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9001722 Dysarthria ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9002695 Cataplexy ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataplexy PMID:10521290|PMID:11333381|PMID:11349231|PMID:11479732|PMID:11754101|PMID:12401890|PMID:12955717|PMID:14639697|PMID:15937921|PMID:16086131|PMID:16098014|PMID:20301473|PMID:20554533|PMID:23183285|PMID:23427322|PMID:23773996|PMID:23791518|PMID:25236789|PMID:25349751|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28492532|PMID:32138288|PMID:32248828 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9003739 Niemann-Pick Disease Type D ISO RGD:1318462 D RGD:7240710 20240214 OMIM 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9003739 Niemann-Pick Disease Type D ISO RGD:1318462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type D PMID:11333381|PMID:11545687|PMID:12401890|PMID:16126423|PMID:16778374|PMID:20301473|PMID:20718790|PMID:25741868|PMID:26666848|PMID:26984608|PMID:28222799|PMID:28492532|PMID:9245994|PMID:9634529 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9004866 Ataxia ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273508 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8716046 Npc1 NPC intracellular cholesterol transporter 1 gene DOID:9970 obesity ISO RGD:1318462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151714 8716075 B3galnt1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) gene DOID:630 genetic disease ISO RGD:1312449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716075 B3galnt1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) gene DOID:9005170 polyagglutination ISO RGD:1312449 D RGD:7240710 20230505 OMIM 8716099 L3hypdh trans-L-3-hydroxyproline dehydratase gene DOID:630 genetic disease ISO RGD:1313918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716099 L3hypdh trans-L-3-hydroxyproline dehydratase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8716119 Trim44 tripartite motif containing 44 gene DOID:1059 intellectual disability ISO RGD:1312571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8716119 Trim44 tripartite motif containing 44 gene DOID:12271 aniridia ISO RGD:1312571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8716119 Trim44 tripartite motif containing 44 gene DOID:630 genetic disease ISO RGD:1312571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716119 Trim44 tripartite motif containing 44 gene DOID:9001549 Aniridia 3 ISO RGD:1312571 D RGD:7240710 20190315 OMIM 8716119 Trim44 tripartite motif containing 44 gene DOID:9001549 Aniridia 3 ISO RGD:1312571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aniridia 3 PMID:25741868|PMID:26394807 8716119 Trim44 tripartite motif containing 44 gene DOID:9003936 Cardiomegaly ISO RGD:1304877 D RGD:9068941 20230727 RGD mRNA,protein:increased expression:heart PMID:35855640|REF_RGD_ID:329961579 8716119 Trim44 tripartite motif containing 44 gene DOID:9003936 Cardiomegaly ISO RGD:1312571 D RGD:9068941 20230727 RGD mRNA:increased expression:heart PMID:35855640|REF_RGD_ID:329961579 8716119 Trim44 tripartite motif containing 44 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:1304877 D RGD:9068941 20230727 RGD PMID:35855640|REF_RGD_ID:329961579 8716142 Nkx2-8 NK2 homeobox 8 gene DOID:0080016 spina bifida ISO RGD:12245875 D RGD:9068941 20230615 OMIA Spinal dysraphism PMID:1641930|PMID:22843830|PMID:23874236|PMID:26725976|PMID:375559|PMID:4434313|PMID:4732250|PMID:5023160|PMID:5318050|PMID:5339905|PMID:5893238|PMID:6756221|PMID:6756222|PMID:8578905 8716142 Nkx2-8 NK2 homeobox 8 gene DOID:12859 choreatic disease ISO RGD:1321643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 8716142 Nkx2-8 NK2 homeobox 8 gene DOID:630 genetic disease ISO RGD:1321643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716142 Nkx2-8 NK2 homeobox 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8716160 Trim47 tripartite motif containing 47 gene DOID:630 genetic disease ISO RGD:1322764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716160 Trim47 tripartite motif containing 47 gene DOID:9002170 Experimental Neoplasms ISO RGD:1322764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 8716160 Trim47 tripartite motif containing 47 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 8716160 Trim47 tripartite motif containing 47 gene DOID:9008939 Breast Neoplasms ISO RGD:1322764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31981573 8716171 Iqck IQ motif containing K gene DOID:10652 Alzheimer's disease ISO RGD:1605300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 8716171 Iqck IQ motif containing K gene DOID:630 genetic disease ISO RGD:1605300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716185 Polr2a RNA polymerase II subunit A gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1352013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8716185 Polr2a RNA polymerase II subunit A gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1352013 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8716185 Polr2a RNA polymerase II subunit A gene DOID:1059 intellectual disability ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8716185 Polr2a RNA polymerase II subunit A gene DOID:12177 common variable immunodeficiency ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8716185 Polr2a RNA polymerase II subunit A gene DOID:12858 Huntington's disease ISO RGD:1557071 D RGD:9068941 20200609 RGD PMID:20089533|REF_RGD_ID:10043799 8716185 Polr2a RNA polymerase II subunit A gene DOID:2729 dyskeratosis congenita ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8716185 Polr2a RNA polymerase II subunit A gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1352013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8716185 Polr2a RNA polymerase II subunit A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8716185 Polr2a RNA polymerase II subunit A gene DOID:630 genetic disease ISO RGD:1352013 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:25741868|PMID:31353023 8716185 Polr2a RNA polymerase II subunit A gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:1352013 D RGD:7240710 20191030 OMIM 8716185 Polr2a RNA polymerase II subunit A gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:1352013 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | ClinVar Annotator: match by term: POLR2A-related condition PMID:24033266|PMID:25741868|PMID:31353023|PMID:33665635 8716185 Polr2a RNA polymerase II subunit A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868 8716185 Polr2a RNA polymerase II subunit A gene DOID:9005600 Infarction ISO RGD:1587326 D RGD:9068941 20200609 RGD PMID:22535878|REF_RGD_ID:9681722 8716185 Polr2a RNA polymerase II subunit A gene DOID:9008582 Developmental Disease ISO RGD:1352013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8716236 Tmem216 transmembrane protein 216 gene DOID:0050777 Joubert syndrome ISO RGD:1602714 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568 8716236 Tmem216 transmembrane protein 216 gene DOID:0050778 Meckel syndrome ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 8716236 Tmem216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:7240710 20180130 OMIM 8716236 Tmem216 transmembrane protein 216 gene DOID:0070116 Meckel syndrome 2 ISO RGD:1602714 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 2 PMID:16199547|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568 8716236 Tmem216 transmembrane protein 216 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8716236 Tmem216 transmembrane protein 216 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602714 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20036350|PMID:20301500|PMID:20307669|PMID:20512146|PMID:22282472|PMID:22406018|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:9536098 8716236 Tmem216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:7240710 20180130 OMIM 8716236 Tmem216 transmembrane protein 216 gene DOID:0110988 Joubert Syndrome 2 ISO RGD:1602714 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2 PMID:16199547|PMID:18414213|PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568 8716236 Tmem216 transmembrane protein 216 gene DOID:1059 intellectual disability ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe 8716236 Tmem216 transmembrane protein 216 gene DOID:630 genetic disease ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20036350|PMID:20301500|PMID:20512146|PMID:22282472|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532 8716236 Tmem216 transmembrane protein 216 gene DOID:9006534 Nervous System Malformations ISO RGD:1602714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20036350|PMID:20512146|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532 8716258 Nsun7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:12336 male infertility ISO RGD:1602865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17442852 8716258 Nsun7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:630 genetic disease ISO RGD:1602865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716258 Nsun7 NOP2/Sun RNA methyltransferase family member 7 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1602865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:0080228 autosomal dominant intellectual developmental disorder 53 ISO RGD:736752 D RGD:7240710 20190315 OMIM 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:0080228 autosomal dominant intellectual developmental disorder 53 ISO RGD:736752 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 PMID:25363768|PMID:25741868|PMID:25741872|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:0081224 autosomal recessive intellectual developmental disorder 63 ISO RGD:736752 D RGD:7240710 20190315 OMIM 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:0081224 autosomal recessive intellectual developmental disorder 63 ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 PMID:25741868|PMID:29784083 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:1059 intellectual disability ISO RGD:736752 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25363768|PMID:25741868|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:10652 Alzheimer's disease ISO RGD:736752 D RGD:9068941 20200609 RGD PMID:15621017|REF_RGD_ID:13681926 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:14764 Larsen syndrome ISO RGD:736752 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Larsen syndrome, dominant type PMID:25741868 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:224 transient cerebral ischemia ISO RGD:10284 D RGD:9068941 20200609 RGD PMID:12199152|REF_RGD_ID:13681927 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:224 transient cerebral ischemia ISO RGD:2261 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:12951199|REF_RGD_ID:7241547 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:3070 high grade glioma disease_progression ISO RGD:736752 D RGD:9068941 20200609 RGD PMID:29393370|REF_RGD_ID:13702478 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:3312 bipolar disorder ISO RGD:10284 D RGD:9068941 20220825 MouseDO 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:3525 middle cerebral artery infarction ISO RGD:2261 D RGD:9068941 20200609 RGD PMID:14688616|REF_RGD_ID:1358416 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:630 genetic disease ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:700 mitochondrial metabolism disease ISO RGD:736752 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:893 Wilson disease ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9002211 Hyperalgesia ISO RGD:2261 D RGD:9068941 20200609 RGD PMID:18042863|REF_RGD_ID:7240711 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9002211 Hyperalgesia ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20053885 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736752 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment ISO RGD:2261 D RGD:9068941 20200609 RGD PMID:23558232|REF_RGD_ID:9685025 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9005369 Hepatomegaly ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9005372 Inflammation ISO RGD:2261 D RGD:9068941 20200609 RGD protein:increased expression:axon PMID:12176168|REF_RGD_ID:9685027 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14725635 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9006956 nephrotoxicity treatment ISO RGD:2261 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8716284 Camk2a calcium/calmodulin dependent protein kinase II alpha gene DOID:9008086 Developmental Disabilities ISO RGD:736752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741872 8716314 Klkb1 kallikrein B1 gene DOID:0050589 inflammatory bowel disease ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:8625762|REF_RGD_ID:7327139 8716314 Klkb1 kallikrein B1 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:736915 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy PMID:17962476 8716314 Klkb1 kallikrein B1 gene DOID:0060041 autism spectrum disorder ISO RGD:736915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 8716314 Klkb1 kallikrein B1 gene DOID:0060903 thrombosis ISO RGD:736915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 8716314 Klkb1 kallikrein B1 gene DOID:0080162 lupus nephritis susceptibility ISO RGD:736915 D RGD:9068941 20200609 RGD DNA:SNPs:promoter: PMID:19307730|REF_RGD_ID:7327150 8716314 Klkb1 kallikrein B1 gene DOID:10763 hypertension ISO RGD:736915 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma: PMID:12716755|REF_RGD_ID:7327151 8716314 Klkb1 kallikrein B1 gene DOID:12849 autistic disorder ISO RGD:736915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8716314 Klkb1 kallikrein B1 gene DOID:2213 hemorrhagic disease ISO RGD:736915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8716314 Klkb1 kallikrein B1 gene DOID:2229 factor XI deficiency ISO RGD:736915 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:32581362|PMID:34355501 8716314 Klkb1 kallikrein B1 gene DOID:2566 corneal dystrophy ISO RGD:736915 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy 8716314 Klkb1 kallikrein B1 gene DOID:2921 glomerulonephritis ISO RGD:736915 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:2173275|REF_RGD_ID:7327152 8716314 Klkb1 kallikrein B1 gene DOID:3410 carotid artery thrombosis ISO RGD:736915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 8716314 Klkb1 kallikrein B1 gene DOID:5082 liver cirrhosis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:14986822|REF_RGD_ID:7297050 8716314 Klkb1 kallikrein B1 gene DOID:630 genetic disease ISO RGD:736915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716314 Klkb1 kallikrein B1 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:736915 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:plasma: PMID:12716755|REF_RGD_ID:7327151 8716314 Klkb1 kallikrein B1 gene DOID:9002457 Experimental Arthritis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:22739815|PMID:9783057|REF_RGD_ID:7297047|REF_RGD_ID:7327138 8716314 Klkb1 kallikrein B1 gene DOID:9002805 Enterocolitis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:9783057|REF_RGD_ID:7327138 8716314 Klkb1 kallikrein B1 gene DOID:9003851 Prekallikrein Deficiency ISO RGD:736915 D RGD:7240710 20180130 OMIM 8716314 Klkb1 kallikrein B1 gene DOID:9003851 Prekallikrein Deficiency ISO RGD:736915 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inherited prekallikrein deficiency | ClinVar Annotator: match by term: KLKB1-related condition | ClinVar Annotator: match by term: Prekallikrein deficiency PMID:12871337|PMID:14652634|PMID:15461630|PMID:17598838|PMID:19404525|PMID:25741868|PMID:28492532|PMID:32202057|PMID:33073460|PMID:33116287|PMID:34847617 8716314 Klkb1 kallikrein B1 gene DOID:9004484 Sepsis ISO RGD:67382 D RGD:9068941 20200609 RGD PMID:22352684|REF_RGD_ID:7297048 8716314 Klkb1 kallikrein B1 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:736915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8716314 Klkb1 kallikrein B1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736915 D RGD:9068941 20200609 RGD DNA:SNPs:promoter: PMID:19307730|REF_RGD_ID:7327150 8716314 Klkb1 kallikrein B1 gene DOID:9477 pulmonary embolism ISO RGD:736915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25339356 8716338 Slc41a3 solute carrier family 41 member 3 gene DOID:630 genetic disease ISO RGD:1343810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716338 Slc41a3 solute carrier family 41 member 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8716338 Slc41a3 solute carrier family 41 member 3 gene DOID:9270 alkaptonuria ISO RGD:1343810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8716362 Tac4 tachykinin precursor 4 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:735700 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8716362 Tac4 tachykinin precursor 4 gene DOID:630 genetic disease ISO RGD:735700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716381 Emc8 ER membrane protein complex subunit 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1322563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8716381 Emc8 ER membrane protein complex subunit 8 gene DOID:630 genetic disease ISO RGD:1322563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716390 Kif17 kinesin family member 17 gene DOID:0060041 autism spectrum disorder ISO RGD:1344438 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8716390 Kif17 kinesin family member 17 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8716390 Kif17 kinesin family member 17 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1344438 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8716390 Kif17 kinesin family member 17 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8716390 Kif17 kinesin family member 17 gene DOID:630 genetic disease ISO RGD:1344438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716390 Kif17 kinesin family member 17 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1344438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8716418 CUNH3orf38 chromosome unknown C3orf38 homolog gene DOID:630 genetic disease ISO RGD:1602632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716432 Gdf11 growth differentiation factor 11 gene DOID:0050567 orofacial cleft ISO RGD:731907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:31215115 8716432 Gdf11 growth differentiation factor 11 gene DOID:0070418 vertebral hypersegmentation and orofacial anomalies ISO RGD:731907 D RGD:7240710 20220406 OMIM 8716432 Gdf11 growth differentiation factor 11 gene DOID:0070418 vertebral hypersegmentation and orofacial anomalies ISO RGD:731907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral hypersegmentation and orofacial anomalies PMID:25741868|PMID:31215115 8716432 Gdf11 growth differentiation factor 11 gene DOID:0080600 COVID-19 ISO RGD:731907 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8716432 Gdf11 growth differentiation factor 11 gene DOID:630 genetic disease ISO RGD:731907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716432 Gdf11 growth differentiation factor 11 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736225 D RGD:9068941 20230615 RGD mRNA, protein:decreased expression:heart (mouse) PMID:30765322|REF_RGD_ID:329849112 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354178 D RGD:9068941 20200609 RGD DNA:missensemutations:cds: PMID:21532572|REF_RGD_ID:9588627 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:620979 D RGD:9068941 20240201 RGD mRNA,protein:increased expression:Pituitary gland (rat) PMID:26509893|REF_RGD_ID:11344152 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1552151 D RGD:9068941 20210521 RGD protein:increased expression:heart (mouse) PMID:32051532|REF_RGD_ID:126925233 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050902 medulloblastoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19155313 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1354178 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32431489 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050952 spastic ataxia ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy ISO RGD:1354178 D RGD:7240710 20180130 OMIM 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy PMID:10210919|PMID:17576681|PMID:21532572|PMID:22328086|PMID:23365052|PMID:25326637|PMID:25678562|PMID:25741868|PMID:28334952|PMID:28492532|PMID:30165906|PMID:31984424|PMID:7898717|PMID:8747854|PMID:9536098 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354178 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:7240710 20180130 OMIM 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:10210919|PMID:16199547|PMID:17576681|PMID:21532572|PMID:23365052|PMID:23521649|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30165906|PMID:7898717|PMID:9536098 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1354178 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:10210919|PMID:16199547|PMID:17576681|PMID:21532572|PMID:22328086|PMID:23365052|PMID:23521649|PMID:23904686|PMID:23911319|PMID:24727570|PMID:25326637|PMID:25678562|PMID:25741868|PMID:26467025|PMID:28334952|PMID:28492532|PMID:30165906|PMID:30342480|PMID:31049076|PMID:31984424|PMID:35640668|PMID:7898717|PMID:8747854|PMID:9536098 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:24038143|REF_RGD_ID:9588628 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10210919|PMID:21532572|PMID:23365052|PMID:23521649|PMID:24727570|PMID:25326637|PMID:25678562|PMID:25741868|PMID:28334952|PMID:28492532|PMID:7898717 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression PMID:14634451|REF_RGD_ID:2301220 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354178 D RGD:9068941 20210521 RGD protein:increased expression:cardiac muscle tissue of interventricular septum (human) PMID:32051532|REF_RGD_ID:126925233 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:12361 Graves' disease treatment ISO RGD:1354178 D RGD:9068941 20200609 RGD DNA:polymorphism: :32204 G>A(human) PMID:23039890|REF_RGD_ID:9588624 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:12859 choreatic disease ISO RGD:1354178 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Choreatic disease PMID:25741868 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:1307 dementia ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:24548441|REF_RGD_ID:9588658 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1354178 D RGD:9068941 20211210 RGD protein:increased expression:lung (human) PMID:21496867|REF_RGD_ID:150530293 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:1682 congenital heart disease ISO RGD:620979 D RGD:9068941 20200609 RGD associated with Vitamin A Deficiency; mRNA:increased expression:heart: PMID:23333085|REF_RGD_ID:9588314 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:2030 anxiety disorder ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23791455 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:1552151 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland: PMID:17178860|REF_RGD_ID:2289681 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:2841 asthma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23423710 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:2841 asthma ISO RGD:1552151 D RGD:9068941 20200609 RGD DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: PMID:23196709|REF_RGD_ID:9588646 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:288 endometriosis of uterus ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:ectopic endometrium: PMID:22572543|REF_RGD_ID:9588664 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:289 endometriosis ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:endometrium: PMID:21316665|REF_RGD_ID:9588653 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:299 adenocarcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17571247 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:305 carcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:11726790|REF_RGD_ID:9588643 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3565 meningioma ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meningioma 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29844410 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3905 lung carcinoma disease_progression ISO RGD:620979 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:21163286|REF_RGD_ID:9588222 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1354178 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1354178 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:417 autoimmune disease ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:23444399|REF_RGD_ID:9588650 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27292127 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:4531 mucoepidermoid carcinoma disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:15999364|REF_RGD_ID:9588574 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:19484794|REF_RGD_ID:4140940 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:5082 liver cirrhosis ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:24211420|REF_RGD_ID:9588224 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:535 sleep disorder ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:GABAergic interneuron PMID:17264840|REF_RGD_ID:9588642 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:22564440|REF_RGD_ID:9588973 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1354178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: EMG Syndrome PMID:25741868|PMID:28492532|PMID:30165906 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:6000 congestive heart failure ISO RGD:620979 D RGD:9068941 20200609 RGD protein:increased expression:atrium: PMID:23573917|REF_RGD_ID:9588286 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1354178 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21532572|PMID:24727570|PMID:25678562|PMID:25741868|PMID:28492532|PMID:30165906|PMID:31049076|PMID:35640668|PMID:36394275|PMID:9536098 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:20937307|REF_RGD_ID:9588623 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:8456 choline deficiency disease ISO RGD:620979 D RGD:9068941 20200609 RGD DNA:hypermethylation:liver: PMID:17724018|REF_RGD_ID:9588267 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:11222358|REF_RGD_ID:9588667 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17571247|PMID:21458988 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9000998 Brain Injuries ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:19429151|REF_RGD_ID:9588608 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:16380407|REF_RGD_ID:9588242 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:12869365|REF_RGD_ID:9588619 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:20584988|REF_RGD_ID:9588671 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms treatment ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:24038143|REF_RGD_ID:9588628 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194984 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:620979 D RGD:9068941 20200609 RGD protein:increased expression:peritoneum: PMID:25256793|REF_RGD_ID:9588609 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002598 Spastic Paraparesis ISO RGD:1354178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:25741868 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:1354178 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2228611,rs759920 (human) PMID:23666104|REF_RGD_ID:9588645 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19723570 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:19723570|REF_RGD_ID:9588972 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9003036 Oral Lichen Planus ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:22236544|REF_RGD_ID:9589075 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression PMID:17196739|REF_RGD_ID:2301221 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1354178 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9004538 Hearing Loss ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532572 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28544374 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9004866 Ataxia ISO RGD:1354178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia PMID:25741868|PMID:28492532 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9006302 Binge Drinking ISO RGD:1552151 D RGD:9068941 20200609 RGD protein:increased expression:nucleus accumbens: PMID:23423140|REF_RGD_ID:9588287 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1552151 D RGD:9068941 20200609 RGD PMID:22905112|REF_RGD_ID:9588654 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9007702 Carcinogenesis disease_progression ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:21163286|REF_RGD_ID:9588222 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:620979 D RGD:9068941 20200609 RGD PMID:23717604|REF_RGD_ID:9588299 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1354178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22520950|PMID:28544374 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:decreased expression:T cell: PMID:21595664|REF_RGD_ID:9588656 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1354178 D RGD:9068941 20200609 RGD PMID:18194272|REF_RGD_ID:9588670 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:CD34+ bone marrow cells PMID:11222358|REF_RGD_ID:9588667 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620979 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21818837|REF_RGD_ID:7207079 8716438 Dnmt1 DNA methyltransferase 1 gene DOID:986 alopecia areata ISO RGD:1354178 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 8716485 Ifi16 interferon gamma inducible protein 16 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8716485 Ifi16 interferon gamma inducible protein 16 gene DOID:1540 parathyroid carcinoma ISO RGD:1344171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8716485 Ifi16 interferon gamma inducible protein 16 gene DOID:630 genetic disease ISO RGD:1344171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716485 Ifi16 interferon gamma inducible protein 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1557521 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8716485 Ifi16 interferon gamma inducible protein 16 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8716486 Laptm5 lysosomal protein transmembrane 5 gene DOID:2986 IgA glomerulonephritis ISO RGD:1354375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8716486 Laptm5 lysosomal protein transmembrane 5 gene DOID:630 genetic disease ISO RGD:1354375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716486 Laptm5 lysosomal protein transmembrane 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:0080863 primary ovarian insufficiency 6 ISO RGD:1602165 D RGD:7240710 20180130 OMIM 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:0080863 primary ovarian insufficiency 6 ISO RGD:1602165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 6 PMID:18499083|PMID:25314148|PMID:25741868|PMID:29914564|PMID:30474133 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1602165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:543 dystonia ISO RGD:1602165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1602165 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1602165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716527 Figla folliculogenesis specific bHLH transcription factor gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1602165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8716554 Cst8 cystatin 8 gene DOID:12336 male infertility ISO RGD:736077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20811015 8716554 Cst8 cystatin 8 gene DOID:630 genetic disease ISO RGD:736077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716577 Gfral GDNF family receptor alpha like gene DOID:630 genetic disease ISO RGD:1604920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716593 Hdgf heparin binding growth factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8716593 Hdgf heparin binding growth factor gene DOID:0111940 immunodeficiency 42 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8716593 Hdgf heparin binding growth factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8716593 Hdgf heparin binding growth factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:735331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8716593 Hdgf heparin binding growth factor gene DOID:1540 parathyroid carcinoma ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8716593 Hdgf heparin binding growth factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8716593 Hdgf heparin binding growth factor gene DOID:5812 MHC class II deficiency ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8716593 Hdgf heparin binding growth factor gene DOID:630 genetic disease ISO RGD:735331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716593 Hdgf heparin binding growth factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0050589 inflammatory bowel disease ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:732385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:732385 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732385 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732385 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0081097 Rafiq syndrome ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8716606 Card9 caspase recruitment domain family member 9 gene DOID:0110980 Joubert syndrome 1 ISO RGD:732385 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8716606 Card9 caspase recruitment domain family member 9 gene DOID:2986 IgA glomerulonephritis ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25305756 8716606 Card9 caspase recruitment domain family member 9 gene DOID:3652 Leigh disease ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:612 primary immunodeficiency disease ISO RGD:732385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8716606 Card9 caspase recruitment domain family member 9 gene DOID:630 genetic disease ISO RGD:732385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8716606 Card9 caspase recruitment domain family member 9 gene DOID:7147 ankylosing spondylitis ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 8716606 Card9 caspase recruitment domain family member 9 gene DOID:8466 retinal degeneration ISO RGD:708370 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8716606 Card9 caspase recruitment domain family member 9 gene DOID:8577 ulcerative colitis ISO RGD:732385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 8716606 Card9 caspase recruitment domain family member 9 gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:708370 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8716606 Card9 caspase recruitment domain family member 9 gene DOID:9005249 Immunodeficiency 103 ISO RGD:732385 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:16199547|PMID:17576681|PMID:19864672|PMID:21983784|PMID:22730530|PMID:23335372|PMID:24033266|PMID:24068945|PMID:24131138|PMID:24231284|PMID:24704721|PMID:25702837|PMID:25731871|PMID:25741868|PMID:25933095|PMID:26038974|PMID:26521038|PMID:26679537|PMID:26961233|PMID:27490946|PMID:27777981|PMID:28252032|PMID:28492532|PMID:28842327|PMID:29080677|PMID:29307770|PMID:29890237|PMID:30136218|PMID:30429846|PMID:30537277|PMID:30809743|PMID:30837984|PMID:31102464|PMID:31414217|PMID:31469433|PMID:32888943|PMID:33414972|PMID:33558980|PMID:33872781|PMID:34234782|PMID:35628702|PMID:35727133|PMID:9536098|PMID:9835960 8716606 Card9 caspase recruitment domain family member 9 gene DOID:9005249 Immunodeficiency 103 susceptibility ISO RGD:732385 D RGD:7240710 20220629 OMIM 8716606 Card9 caspase recruitment domain family member 9 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:732385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8716639 Rph3a rabphilin 3A gene DOID:0080600 COVID-19 ISO RGD:1347244 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8716639 Rph3a rabphilin 3A gene DOID:630 genetic disease ISO RGD:1347244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716732 Pigf phosphatidylinositol glycan anchor biosynthesis class F gene DOID:3883 Lynch syndrome ISO RGD:1351645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8716732 Pigf phosphatidylinositol glycan anchor biosynthesis class F gene DOID:630 genetic disease ISO RGD:1351645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716732 Pigf phosphatidylinositol glycan anchor biosynthesis class F gene DOID:9001770 ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ISO RGD:1351645 D RGD:7240710 20210818 OMIM 8716732 Pigf phosphatidylinositol glycan anchor biosynthesis class F gene DOID:9001770 ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ISO RGD:1351645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome PMID:33386993 8716732 Pigf phosphatidylinositol glycan anchor biosynthesis class F gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:1351645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies PMID:27250922 8716765 Cd47 CD47 molecule gene DOID:3312 bipolar disorder ISO RGD:737350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8716765 Cd47 CD47 molecule gene DOID:630 genetic disease ISO RGD:737350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716779 Kctd4 potassium channel tetramerization domain containing 4 gene DOID:630 genetic disease ISO RGD:1353413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716803 Tmem104 transmembrane protein 104 gene DOID:630 genetic disease ISO RGD:1606542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:0110356 retinitis pigmentosa 18 ISO RGD:1321525 D RGD:7240710 20180130 OMIM 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:0110356 retinitis pigmentosa 18 ISO RGD:1321525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 18 PMID:11773002|PMID:15085354|PMID:16799052|PMID:17517693|PMID:17932117|PMID:18412284|PMID:20309403|PMID:20811066|PMID:21378395|PMID:25741868|PMID:28492532|PMID:28559085|PMID:33576794 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1321525 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:25741868|PMID:28492532|PMID:28559085|PMID:34906470 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:5812 MHC class II deficiency ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:630 genetic disease ISO RGD:1321525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:8501 fundus dystrophy ISO RGD:1321525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11773002|PMID:15085354|PMID:17932117|PMID:20309403|PMID:20811066|PMID:25741868|PMID:27886254|PMID:28492532|PMID:28559085 8716819 Prpf3 pre-mRNA processing factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8716851 Usp54 ubiquitin specific peptidase 54 gene DOID:630 genetic disease ISO RGD:1343407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716887 Lsm8 LSM8 homolog, U6 small nuclear RNA associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1345558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1345558 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:28492532|PMID:31447100|PMID:33270410 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:9002839 Rahman Syndrome ISO RGD:1345558 D RGD:7240710 20190315 OMIM 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:9002839 Rahman Syndrome ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rahman syndrome PMID:23945933|PMID:25081361|PMID:25741868|PMID:25741869|PMID:28475857|PMID:28492532|PMID:29383847|PMID:29704315|PMID:31447100|PMID:33270410 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33270410 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:9008582 Developmental Disease ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8716901 H1-4 H1.4 linker histone, cluster member gene DOID:9538 multiple myeloma ISO RGD:1345558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8716920 Mapk6 mitogen-activated protein kinase 6 gene DOID:0080600 COVID-19 ISO RGD:733646 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8716920 Mapk6 mitogen-activated protein kinase 6 gene DOID:2717 Bloom syndrome ISO RGD:733646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8716920 Mapk6 mitogen-activated protein kinase 6 gene DOID:607 paraplegia ISO RGD:733646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 8716920 Mapk6 mitogen-activated protein kinase 6 gene DOID:630 genetic disease ISO RGD:733646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716920 Mapk6 mitogen-activated protein kinase 6 gene DOID:9002221 Hyperplasia ISO RGD:733646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561872 8716920 Mapk6 mitogen-activated protein kinase 6 gene DOID:9256 colorectal cancer ISO RGD:733646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8716939 Ly6g6f lymphocyte antigen 6 family member G6F gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1342827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8716939 Ly6g6f lymphocyte antigen 6 family member G6F gene DOID:11372 megacolon ISO RGD:1342827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8716939 Ly6g6f lymphocyte antigen 6 family member G6F gene DOID:630 genetic disease ISO RGD:1342827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:0050589 inflammatory bowel disease ISO RGD:736886 D RGD:9068941 20200609 RGD protein, mRNA:increased expression: colonic mucosa: inflamed tissue only PMID:16195422|REF_RGD_ID:5688766 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736886 D RGD:7240710 20180130 OMIM 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioosteoarthropathy | ClinVar Annotator: match by term: Isolated congenital digital clubbing PMID:17551338|PMID:18500342|PMID:18805827|PMID:19306095|PMID:25741868|PMID:28492532|PMID:32282352|PMID:9402870 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:1520 colon carcinoma ISO RGD:736886 D RGD:9068941 20200609 RGD DNA:::adenoviral delivery of human gene in mouse model of colon cancer PMID:19494278|REF_RGD_ID:5688759 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:305 carcinoma treatment ISO RGD:620087 D RGD:9068941 20200609 RGD PMID:18058808|REF_RGD_ID:11667092 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:5394 prolactinoma ISO RGD:736886 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736886 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:630 genetic disease ISO RGD:736886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:6432 pulmonary hypertension ISO RGD:736886 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:24657469|REF_RGD_ID:11667099 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:750 peptic ulcer disease treatment ISO RGD:620087 D RGD:9068941 20200609 RGD PMID:23884819|REF_RGD_ID:11667098 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9000622 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 ISO RGD:736886 D RGD:7240710 20180130 OMIM 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9000622 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 ISO RGD:736886 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 PMID:17551338|PMID:18500342|PMID:19306095|PMID:25741868|PMID:28492532|PMID:29758562|PMID:32282352|PMID:35708829|PMID:9402870 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9000972 Fever ISO RGD:620087 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, lung PMID:12399253|REF_RGD_ID:2316279 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:736886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9004484 Sepsis ISO RGD:736887 D RGD:9068941 20200609 RGD protein: decreased expression PMID:9603077|REF_RGD_ID:5688768 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9004547 Thyroid Neoplasms ISO RGD:736886 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11352223 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:620087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:24657469|REF_RGD_ID:11667099 8716957 Hpgd 15-hydroxyprostaglandin dehydrogenase gene DOID:9006195 Medullary Carcinomas ISO RGD:736886 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11352223 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:735448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:735448 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:735448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:735448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735448 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:9005460 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS ISO RGD:735448 D RGD:7240710 20200318 OMIM 8716974 Vamp2 vesicle associated membrane protein 2 gene DOID:9005460 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS ISO RGD:735448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements PMID:25741868|PMID:30929742 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:0060041 autism spectrum disorder ISO RGD:1315197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:0080600 COVID-19 ISO RGD:1315197 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:10652 Alzheimer's disease ISO RGD:1315197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042211 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:11100 Q fever ISO RGD:1315197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:3146 lipid metabolism disorder ISO RGD:1315197 D RGD:9068941 20200609 RGD desmosterolosis, OMIM:602398, Y471S, N294T, K306N PMID:11519011|REF_RGD_ID:1600897 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:5419 schizophrenia ISO RGD:1315197 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:630 genetic disease ISO RGD:1315197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:9004193 Desmosterolosis ISO RGD:1315197 D RGD:7240710 20180130 OMIM 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:9004193 Desmosterolosis ISO RGD:1315197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Desmosterolosis PMID:11519011|PMID:21559050|PMID:21671375|PMID:21902244|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 8716984 Dhcr24 24-dehydrocholesterol reductase gene DOID:9008386 Hydrops Fetalis ISO RGD:1315197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 8717000 Tmem86a transmembrane protein 86A gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1601825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 8717000 Tmem86a transmembrane protein 86A gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1601825 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8717000 Tmem86a transmembrane protein 86A gene DOID:1059 intellectual disability ISO RGD:1601825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8717000 Tmem86a transmembrane protein 86A gene DOID:630 genetic disease ISO RGD:1601825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717046 Eif3g eukaryotic translation initiation factor 3 subunit G gene DOID:630 genetic disease ISO RGD:1316234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717046 Eif3g eukaryotic translation initiation factor 3 subunit G gene DOID:9004136 Cataplexy and Narcolepsy ISO RGD:1316234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataplexy and narcolepsy PMID:25669430 8717066 Kif23 kinesin family member 23 gene DOID:0080600 COVID-19 ISO RGD:1318460 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8717066 Kif23 kinesin family member 23 gene DOID:0111399 congenital dyserythropoietic anemia type III ISO RGD:1318460 D RGD:7240710 20220406 OMIM 8717066 Kif23 kinesin family member 23 gene DOID:0111399 congenital dyserythropoietic anemia type III ISO RGD:1318460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type III | ClinVar Annotator: match by term: KIF23-related condition PMID:13867810|PMID:14886400|PMID:23570799|PMID:25741868|PMID:28492532|PMID:33159567 8717066 Kif23 kinesin family member 23 gene DOID:10907 microcephaly ISO RGD:1318460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:26539891 8717066 Kif23 kinesin family member 23 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1318460 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism 8717066 Kif23 kinesin family member 23 gene DOID:2717 Bloom syndrome ISO RGD:1318460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8717066 Kif23 kinesin family member 23 gene DOID:630 genetic disease ISO RGD:1318460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8717066 Kif23 kinesin family member 23 gene DOID:684 hepatocellular carcinoma ISO RGD:1318460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8717066 Kif23 kinesin family member 23 gene DOID:9256 colorectal cancer ISO RGD:1318460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8717092 Prkd3 protein kinase D3 gene DOID:0080690 RASopathy ISO RGD:1353868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8717092 Prkd3 protein kinase D3 gene DOID:630 genetic disease ISO RGD:1353868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717092 Prkd3 protein kinase D3 gene DOID:9004657 Weight Gain ISO RGD:1353868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:630 genetic disease ISO RGD:1314644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1314644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1314644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8717204 Cdk15 cyclin dependent kinase 15 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1314644 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8717228 Psmf1 proteasome inhibitor subunit 1 gene DOID:630 genetic disease ISO RGD:1345633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717272 Adora2b adenosine A2b receptor gene DOID:630 genetic disease ISO RGD:731019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717272 Adora2b adenosine A2b receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27590504 8717272 Adora2b adenosine A2b receptor gene DOID:9004009 Reperfusion Injury ISO RGD:731019 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27757725 8717272 Adora2b adenosine A2b receptor gene DOID:9004484 Sepsis ISO RGD:731019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27757725 8717272 Adora2b adenosine A2b receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731019 D RGD:9068941 20230128 CTD CTD Direct Evidence: therapeutic PMID:35292334 8717311 Tns4 tensin 4 gene DOID:630 genetic disease ISO RGD:1605916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717328 Spred3 sprouty related EVH1 domain containing 3 gene DOID:630 genetic disease ISO RGD:1606081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717346 Apeh acylaminoacyl-peptide hydrolase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8717346 Apeh acylaminoacyl-peptide hydrolase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8717346 Apeh acylaminoacyl-peptide hydrolase gene DOID:630 genetic disease ISO RGD:735668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717346 Apeh acylaminoacyl-peptide hydrolase gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:0111621 Temtamy syndrome ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:630 genetic disease ISO RGD:1344050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:850 lung disease ISO RGD:1344050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:9000998 Brain Injuries ISO RGD:1344050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8717379 Clec4e C-type lectin domain family 4 member E gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8717395 Larp1b La ribonucleoprotein 1B gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1605666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 8717395 Larp1b La ribonucleoprotein 1B gene DOID:10283 prostate cancer ISO RGD:1605666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8717395 Larp1b La ribonucleoprotein 1B gene DOID:630 genetic disease ISO RGD:1605666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717418 Gnb2 G protein subunit beta 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8717418 Gnb2 G protein subunit beta 2 gene DOID:630 genetic disease ISO RGD:733685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717418 Gnb2 G protein subunit beta 2 gene DOID:9001288 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:733685 D RGD:7240710 20211027 OMIM 8717418 Gnb2 G protein subunit beta 2 gene DOID:9001288 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and dysmorphic facies PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358 8717418 Gnb2 G protein subunit beta 2 gene DOID:9002070 Sick Sinus Syndrome 4 ISO RGD:733685 D RGD:7240710 20210818 OMIM 8717418 Gnb2 G protein subunit beta 2 gene DOID:9002070 Sick Sinus Syndrome 4 ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GNB2-related condition | ClinVar Annotator: match by term: Sick sinus syndrome 4 PMID:25741868|PMID:28219978|PMID:31698099|PMID:34183358 8717418 Gnb2 G protein subunit beta 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33971351 8717435 G2e3 G2/M-phase specific E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1321062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717435 G2e3 G2/M-phase specific E3 ubiquitin protein ligase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321062 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8717453 Unc5a unc-5 netrin receptor A gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8717453 Unc5a unc-5 netrin receptor A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8717453 Unc5a unc-5 netrin receptor A gene DOID:14748 Sotos syndrome ISO RGD:1344019 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8717453 Unc5a unc-5 netrin receptor A gene DOID:630 genetic disease ISO RGD:1344019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717453 Unc5a unc-5 netrin receptor A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8717453 Unc5a unc-5 netrin receptor A gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1344019 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:0050902 medulloblastoma ISO RGD:1607069 D RGD:7240710 20221102 OMIM 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:0050902 medulloblastoma ISO RGD:1607069 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:31609649 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:0111942 immunodeficiency 25 ISO RGD:1607069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:1540 parathyroid carcinoma ISO RGD:1607069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:630 genetic disease ISO RGD:1607069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1607069 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:23332756|PMID:23806086|PMID:25322266|PMID:25741868|PMID:28492532 8717483 Gpr161 G protein-coupled receptor 161 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8717521 Capn3 calpain 3 gene DOID:0050557 congenital muscular dystrophy ISO RGD:731876 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:0080000 muscular disease ISO RGD:731876 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:731876 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10102422|PMID:10330340|PMID:10567047|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11245732|PMID:11297944|PMID:11371436|PMID:11525884|PMID:12461690|PMID:14578192|PMID:14645990|PMID:14981715|PMID:15138196|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:15843148|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16627476|PMID:16650086|PMID:16816913|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17526799|PMID:17562833|PMID:17576681|PMID:17702496|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854868|PMID:18854869|PMID:19015733|PMID:19156839|PMID:19226146|PMID:19285864|PMID:19364062|PMID:19556129|PMID:19835634|PMID:205172126|PMID:20517216|PMID:20635405|PMID:20694146|PMID:21204801|PMID:21624972|PMID:21984748|PMID:22158424|PMID:22378277|PMID:22443334|PMID:22486197|PMID:22926650|PMID:23169433|PMID:24033266|PMID:24715573|PMID:24803842|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25215589|PMID:25252031|PMID:25741868|PMID:25987458|PMID:26060040|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26632398|PMID:26677118|PMID:26810512|PMID:26886200|PMID:27023906|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27066573|PMID:27142102|PMID:27262448|PMID:27431290|PMID:27447704|PMID:27558075|PMID:27671536|PMID:27708273|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28877744|PMID:28914264|PMID:29797799|PMID:30028523|PMID:30056071|PMID:30564623|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31555977|PMID:31788660|PMID:31862442|PMID:31931849|PMID:31937337|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32576226|PMID:3258171|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33250842|PMID:33337384|PMID:33963534|PMID:34355366|PMID:34440373|PMID:34720847|PMID:35157181|PMID:35169782|PMID:35239206|PMID:35309930|PMID:7318636|PMID:7720071|PMID:7762565|PMID:7795603|PMID:8624690|PMID:9150160|PMID:9266733|PMID:9536098|PMID:9642272|PMID:9655129|PMID:9762961|PMID:9777948 8717521 Capn3 calpain 3 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:731876 D RGD:7240710 20180130 OMIM 8717521 Capn3 calpain 3 gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:731876 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A | ClinVar Annotator: match by term: Leyden-Moebius muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:10102422|PMID:10330340|PMID:10567047|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11245732|PMID:11297944|PMID:11371436|PMID:11525884|PMID:11731278|PMID:12461690|PMID:12890817|PMID:14578192|PMID:14645990|PMID:14959561|PMID:14981715|PMID:15138196|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:15843148|PMID:15884399|PMID:16001438|PMID:16100770|PMID:16141003|PMID:16199547|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16607617|PMID:16627476|PMID:16650086|PMID:16816913|PMID:1691480|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17258832|PMID:17318636|PMID:17526799|PMID:17562833|PMID:17576681|PMID:17594342|PMID:17596655|PMID:17702496|PMID:17897828|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18073330|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854868|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19285864|PMID:19364062|PMID:19556129|PMID:19763152|PMID:19835634|PMID:20044116|PMID:20307669|PMID:20477750|PMID:205172126|PMID:20517216|PMID:20580976|PMID:20635405|PMID:20686710|PMID:20694146|PMID:21172462|PMID:21204801|PMID:21288883|PMID:21386772|PMID:21520333|PMID:21624972|PMID:21896784|PMID:21984748|PMID:22006685|PMID:22057634|PMID:22079131|PMID:22158424|PMID:22378277|PMID:22406018|PMID:22443334|PMID:22486197|PMID:22505582|PMID:22926650|PMID:23169433|PMID:23553538|PMID:23597518|PMID:23666804|PMID:23677060|PMID:23757202|PMID:23821418|PMID:23864287|PMID:24033266|PMID:24715573|PMID:24803842|PMID:24846670|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25214167|PMID:25215589|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25783436|PMID:25987458|PMID:26060040|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:26583491|PMID:26632398|PMID:26677118|PMID:26810512|PMID:26886200|PMID:27011640|PMID:27020652|PMID:27023906|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27066573|PMID:27081656|PMID:27142102|PMID:27234031|PMID:27259757|PMID:27262448|PMID:27363342|PMID:27431290|PMID:27447704|PMID:27500519|PMID:27558075|PMID:27671536|PMID:27708273|PMID:27818383|PMID:27854218|PMID:27884173|PMID:28103310|PMID:28300015|PMID:28403181|PMID:28492532|PMID:28602176|PMID:28877744|PMID:28881388|PMID:28914264|PMID:28915917|PMID:29149851|PMID:29685414|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30056071|PMID:30107846|PMID:30538847|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31130284|PMID:31263448|PMID:31268554|PMID:31410652|PMID:31517061|PMID:31555977|PMID:31589614|PMID:31671740|PMID:31788660|PMID:31862442|PMID:31931849|PMID:31937337|PMID:32140910|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32576226|PMID:3258171|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33107701|PMID:33250842|PMID:33335567|PMID:33337384|PMID:33931068|PMID:33963534|PMID:34008892|PMID:34355366|PMID:34426522|PMID:34440373|PMID:34602496|PMID:34697879|PMID:34720847|PMID:35157181|PMID:35169782|PMID:35239206|PMID:35309930|PMID:36575883|PMID:7318636|PMID:7720071|PMID:7762565|PMID:7795603|PMID:8624690|PMID:9150160|PMID:9246005|PMID:9266733|PMID:9452114|PMID:9536098|PMID:9642272|PMID:9655129|PMID:9762961|PMID:9771675|PMID:9777948 8717521 Capn3 calpain 3 gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:25741868|PMID:31263448 8717521 Capn3 calpain 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:731876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:11371436|PMID:15221789|PMID:16141003|PMID:18854869|PMID:19226146|PMID:20635405|PMID:25046369|PMID:25741868|PMID:26404900|PMID:26467025|PMID:28492532 8717521 Capn3 calpain 3 gene DOID:2717 Bloom syndrome ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8717521 Capn3 calpain 3 gene DOID:318 progressive muscular atrophy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive spinal muscular atrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:423 myopathy ISO RGD:731876 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:630 genetic disease ISO RGD:731876 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16971480|PMID:17526799|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35169782 8717521 Capn3 calpain 3 gene DOID:6364 migraine ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:684 hepatocellular carcinoma ISO RGD:2269 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:10806331|REF_RGD_ID:1600777 8717521 Capn3 calpain 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731876 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:9003242 Paresthesia ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paresthesia PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:9003997 Familial Idiopathic Inflammatory Myopathy ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial idiopathic inflammatory myopathy PMID:25741868|PMID:28492532 8717521 Capn3 calpain 3 gene DOID:9005532 Muscle Weakness ISO RGD:731876 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 ISO RGD:731876 D RGD:7240710 20190911 OMIM 8717521 Capn3 calpain 3 gene DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 ISO RGD:731876 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 PMID:10102422|PMID:10330340|PMID:10567047|PMID:10679950|PMID:11053681|PMID:11166169|PMID:11245732|PMID:11297944|PMID:11371436|PMID:11525884|PMID:11731278|PMID:12461690|PMID:12890817|PMID:14578192|PMID:14645990|PMID:14981715|PMID:15138196|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:15843148|PMID:15884399|PMID:16001438|PMID:16100770|PMID:16141003|PMID:16199547|PMID:16372320|PMID:16411092|PMID:16542520|PMID:16607617|PMID:16627476|PMID:16650086|PMID:16816913|PMID:16971480|PMID:17157502|PMID:17236769|PMID:17258832|PMID:17318636|PMID:17526799|PMID:17562833|PMID:17576681|PMID:17594342|PMID:17596655|PMID:17702496|PMID:17897828|PMID:17979987|PMID:17994539|PMID:18055493|PMID:18073330|PMID:18258189|PMID:18334579|PMID:18337726|PMID:18414213|PMID:18563459|PMID:18854869|PMID:19015733|PMID:19048948|PMID:19156839|PMID:19226146|PMID:19285864|PMID:19364062|PMID:19556129|PMID:19835634|PMID:20044116|PMID:205172126|PMID:20517216|PMID:20580976|PMID:20635405|PMID:20694146|PMID:21172462|PMID:21204801|PMID:21288883|PMID:21386772|PMID:21520333|PMID:21624972|PMID:21984748|PMID:22006685|PMID:22057634|PMID:22158424|PMID:22378277|PMID:22443334|PMID:22505582|PMID:22926650|PMID:23169433|PMID:23553538|PMID:23666804|PMID:23677060|PMID:23757202|PMID:23821418|PMID:23864287|PMID:24033266|PMID:24715573|PMID:24803842|PMID:24846670|PMID:25046369|PMID:25079074|PMID:25135358|PMID:25214167|PMID:25215589|PMID:25252031|PMID:25326637|PMID:25512505|PMID:25525159|PMID:25741868|PMID:25987458|PMID:26060040|PMID:26301378|PMID:26363099|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:26632398|PMID:26677118|PMID:26810512|PMID:26886200|PMID:27011640|PMID:27020652|PMID:27023906|PMID:27055500|PMID:27066545|PMID:27066551|PMID:27066573|PMID:27081656|PMID:27142102|PMID:27234031|PMID:27259757|PMID:27262448|PMID:27363342|PMID:27431290|PMID:27447704|PMID:27500519|PMID:27558075|PMID:27671536|PMID:27708273|PMID:27818383|PMID:27854218|PMID:27884173|PMID:28300015|PMID:28403181|PMID:28492532|PMID:28602176|PMID:28881388|PMID:28914264|PMID:28915917|PMID:29970176|PMID:30028523|PMID:30056071|PMID:30107846|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31263448|PMID:31517061|PMID:31555977|PMID:31589614|PMID:31788660|PMID:31862442|PMID:31931849|PMID:31937337|PMID:32140910|PMID:32342993|PMID:32403337|PMID:32528171|PMID:32557990|PMID:32576226|PMID:3258171|PMID:32646536|PMID:32668095|PMID:32896923|PMID:32994280|PMID:33107701|PMID:33250842|PMID:33335567|PMID:33337384|PMID:33931068|PMID:33963534|PMID:34355366|PMID:34426522|PMID:34440373|PMID:34602496|PMID:34720847|PMID:35157181|PMID:35169782|PMID:35239206|PMID:35309930|PMID:36575883|PMID:7318636|PMID:7720071|PMID:7762565|PMID:7795603|PMID:8624690|PMID:9150160|PMID:9246005|PMID:9266733|PMID:9452114|PMID:9536098|PMID:9642272|PMID:9655129|PMID:9762961|PMID:9771675|PMID:9777948 8717521 Capn3 calpain 3 gene DOID:9007114 Mobility Limitation ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:17979987|PMID:18055493|PMID:20635405|PMID:21204801|PMID:21984748|PMID:24803842|PMID:25135358|PMID:25741868|PMID:26301378|PMID:26404900|PMID:26467025|PMID:26484845|PMID:27142102|PMID:27708273|PMID:27884173|PMID:28492532|PMID:28877744|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:9256 colorectal cancer ISO RGD:731876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8717521 Capn3 calpain 3 gene DOID:9884 muscular dystrophy ISO RGD:731876 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10330340|PMID:10679950|PMID:14578192|PMID:14981715|PMID:15221789|PMID:15351423|PMID:15689361|PMID:15725583|PMID:15733273|PMID:16100770|PMID:16141003|PMID:16372320|PMID:16411092|PMID:16650086|PMID:17157502|PMID:17236769|PMID:17318636|PMID:17702496|PMID:20635405|PMID:21204801|PMID:21984748|PMID:25135358|PMID:25741868|PMID:26404900|PMID:26467025|PMID:26484845|PMID:26501342|PMID:27142102|PMID:28492532|PMID:28914264|PMID:30028523|PMID:30919934|PMID:31263448|PMID:31517061|PMID:31788660|PMID:7720071|PMID:9266733 8717521 Capn3 calpain 3 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:731876 D RGD:9068941 20200609 RGD Muscular Dystrophies, Limb-Girdle, type 2A, OMIM:114240;DNA:mutations PMID:9150160|REF_RGD_ID:1600769 8717564 Sirt7 sirtuin 7 gene DOID:418 systemic scleroderma ISO RGD:1314170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25707573 8717564 Sirt7 sirtuin 7 gene DOID:630 genetic disease ISO RGD:1314170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717564 Sirt7 sirtuin 7 gene DOID:9004009 Reperfusion Injury ISO RGD:1314170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28675767 8717564 Sirt7 sirtuin 7 gene DOID:9452 steatotic liver disease ISO RGD:1314170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24210820 8717592 Slc30a6 solute carrier family 30 member 6 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1319489 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 8717592 Slc30a6 solute carrier family 30 member 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868|PMID:28492532 8717592 Slc30a6 solute carrier family 30 member 6 gene DOID:10652 Alzheimer's disease ISO RGD:1319489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16580781 8717592 Slc30a6 solute carrier family 30 member 6 gene DOID:607 paraplegia ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:32581362 8717592 Slc30a6 solute carrier family 30 member 6 gene DOID:630 genetic disease ISO RGD:1319489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717592 Slc30a6 solute carrier family 30 member 6 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1319489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 8717611 Znf410 zinc finger protein 410 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1313783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 8717611 Znf410 zinc finger protein 410 gene DOID:1059 intellectual disability ISO RGD:1313783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8717611 Znf410 zinc finger protein 410 gene DOID:630 genetic disease ISO RGD:1313783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717636 Syce1l synaptonemal complex central element protein 1 like gene DOID:0070168 spermatogenic failure 3 ISO RGD:2902459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 8717636 Syce1l synaptonemal complex central element protein 1 like gene DOID:630 genetic disease ISO RGD:2902459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28317099|PMID:31230720 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1607015 D RGD:7240710 20200805 OMIM 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type PMID:28317099|PMID:5491443 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1607015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:10908 hydrocephalus ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:630 genetic disease ISO RGD:1607015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:9006836 Contracture ISO RGD:1607015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8717643 Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1607015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8717665 Wbp11 WW domain binding protein 11 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1317378 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8717665 Wbp11 WW domain binding protein 11 gene DOID:630 genetic disease ISO RGD:1317378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717665 Wbp11 WW domain binding protein 11 gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1317378 D RGD:7240710 20210421 OMIM 8717665 Wbp11 WW domain binding protein 11 gene DOID:9008737 VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS ISO RGD:1317378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, tracheoesophageal, renal, and limb defects | ClinVar Annotator: match by term: WBP11 spliceosomopathy PMID:25741868|PMID:33276377 8717689 Pld4 phospholipase D family member 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1347934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8717689 Pld4 phospholipase D family member 4 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1347934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8717689 Pld4 phospholipase D family member 4 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1347934 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8717689 Pld4 phospholipase D family member 4 gene DOID:630 genetic disease ISO RGD:1347934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717689 Pld4 phospholipase D family member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 8717689 Pld4 phospholipase D family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8717689 Pld4 phospholipase D family member 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557943 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8717710 Gpr3 G protein-coupled receptor 3 gene DOID:630 genetic disease ISO RGD:1350754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717722 Calhm2 calcium homeostasis modulator family member 2 gene DOID:630 genetic disease ISO RGD:1317957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717729 Rnf25 ring finger protein 25 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8717729 Rnf25 ring finger protein 25 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8717729 Rnf25 ring finger protein 25 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8717729 Rnf25 ring finger protein 25 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8717729 Rnf25 ring finger protein 25 gene DOID:630 genetic disease ISO RGD:1323079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717729 Rnf25 ring finger protein 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8717743 Gprc5c G protein-coupled receptor class C group 5 member C gene DOID:630 genetic disease ISO RGD:1322855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717769 Tomm40l translocase of outer mitochondrial membrane 40 like gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8717769 Tomm40l translocase of outer mitochondrial membrane 40 like gene DOID:1540 parathyroid carcinoma ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8717769 Tomm40l translocase of outer mitochondrial membrane 40 like gene DOID:630 genetic disease ISO RGD:1604579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717769 Tomm40l translocase of outer mitochondrial membrane 40 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8717792 Dipk2a divergent protein kinase domain 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1603352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283809 8717792 Dipk2a divergent protein kinase domain 2A gene DOID:12849 autistic disorder ISO RGD:1603352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 8717792 Dipk2a divergent protein kinase domain 2A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8717799 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8717799 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8717799 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:0111254 glutaric acidemia I ISO RGD:1604521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8717799 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:3413 alpha-mannosidosis ISO RGD:1604521 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8717799 Spc24 SPC24 component of NDC80 kinetochore complex gene DOID:630 genetic disease ISO RGD:1604521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717825 Mix23 mitochondrial matrix import factor 23 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1604240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8717825 Mix23 mitochondrial matrix import factor 23 gene DOID:630 genetic disease ISO RGD:1604240 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717825 Mix23 mitochondrial matrix import factor 23 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8717825 Mix23 mitochondrial matrix import factor 23 gene DOID:9270 alkaptonuria ISO RGD:1604240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8717850 Fgl2 fibrinogen like 2 gene DOID:0040094 autoimmune glomerulonephritis ISO RGD:732675 D RGD:9068941 20220825 MouseDO 8717850 Fgl2 fibrinogen like 2 gene DOID:0080600 COVID-19 ISO RGD:1347654 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8717850 Fgl2 fibrinogen like 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1347654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8717850 Fgl2 fibrinogen like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8717850 Fgl2 fibrinogen like 2 gene DOID:630 genetic disease ISO RGD:1347654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717850 Fgl2 fibrinogen like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8717850 Fgl2 fibrinogen like 2 gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:620170 D RGD:9068941 20200903 RGD PMID:28892130|REF_RGD_ID:38549573 8717850 Fgl2 fibrinogen like 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1347654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8717855 Npw neuropeptide W gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8717855 Npw neuropeptide W gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8717855 Npw neuropeptide W gene DOID:1826 epilepsy ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8717855 Npw neuropeptide W gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8717855 Npw neuropeptide W gene DOID:630 genetic disease ISO RGD:1605830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717873 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:0050589 inflammatory bowel disease ISO RGD:732632 D RGD:9068941 20220825 MouseDO 8717873 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1345604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 8717873 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1345604 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:28492532 8717873 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1345604 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8717873 Nfil3 nuclear factor, interleukin 3 regulated gene DOID:630 genetic disease ISO RGD:1345604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717879 Mcee methylmalonyl-CoA epimerase gene DOID:0060019 coronin-1A deficiency ISO RGD:1320595 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:17823972|PMID:25073507|PMID:28492532 8717879 Mcee methylmalonyl-CoA epimerase gene DOID:14749 methylmalonic acidemia ISO RGD:1320595 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia | ClinVar Annotator: match by term: Methylmalonic acidemia PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325 8717879 Mcee methylmalonyl-CoA epimerase gene DOID:543 dystonia ISO RGD:1320595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8717879 Mcee methylmalonyl-CoA epimerase gene DOID:630 genetic disease ISO RGD:1320595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16697227|PMID:16752391|PMID:17823972|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325 8717879 Mcee methylmalonyl-CoA epimerase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320595 D RGD:7240710 20180130 OMIM 8717879 Mcee methylmalonyl-CoA epimerase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320595 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:17823972|PMID:22522443|PMID:23542699|PMID:24033266|PMID:25073507|PMID:25741868|PMID:25763508|PMID:25954003|PMID:27618451|PMID:27699154|PMID:28490743|PMID:28492532|PMID:29104221|PMID:30682498|PMID:31146325 8717900 Ccdc69 coiled-coil domain containing 69 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603313 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8717900 Ccdc69 coiled-coil domain containing 69 gene DOID:630 genetic disease ISO RGD:1603313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717900 Ccdc69 coiled-coil domain containing 69 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603313 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8717913 Tecr trans-2,3-enoyl-CoA reductase gene DOID:0081188 autosomal recessive intellectual developmental disorder 14 ISO RGD:733590 D RGD:7240710 20180130 OMIM 8717913 Tecr trans-2,3-enoyl-CoA reductase gene DOID:0081188 autosomal recessive intellectual developmental disorder 14 ISO RGD:733590 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 14 PMID:11590547|PMID:21212097|PMID:22981120|PMID:24220030|PMID:25741868 8717913 Tecr trans-2,3-enoyl-CoA reductase gene DOID:630 genetic disease ISO RGD:733590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349487 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0080600 COVID-19 ISO RGD:1349487 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1349487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1349487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8717930 Mib2 MIB E3 ubiquitin protein ligase 2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1349487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8717966 Ppif peptidylprolyl isomerase F gene DOID:0080600 COVID-19 ISO RGD:1354243 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8717966 Ppif peptidylprolyl isomerase F gene DOID:5295 intestinal disease ISO RGD:1354243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 8717966 Ppif peptidylprolyl isomerase F gene DOID:630 genetic disease ISO RGD:1354243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717966 Ppif peptidylprolyl isomerase F gene DOID:9005175 Ulcer ISO RGD:1354243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 8717976 Mpv17l2 MPV17 mitochondrial inner membrane protein like 2 gene DOID:630 genetic disease ISO RGD:1603190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717976 Mpv17l2 MPV17 mitochondrial inner membrane protein like 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1603190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8717985 Dohh deoxyhypusine hydroxylase gene DOID:630 genetic disease ISO RGD:1606491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8717985 Dohh deoxyhypusine hydroxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8717985 Dohh deoxyhypusine hydroxylase gene DOID:9004467 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment ISO RGD:1606491 D RGD:7240710 20221123 OMIM 8717985 Dohh deoxyhypusine hydroxylase gene DOID:9004467 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment ISO RGD:1606491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment PMID:25741868|PMID:35858628 8717993 Rtl1 retrotransposon Gag like 1 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1602404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 8717993 Rtl1 retrotransposon Gag like 1 gene DOID:630 genetic disease ISO RGD:1602404 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8717997 Flnb filamin B gene DOID:0050680 Boomerang dysplasia ISO RGD:1323621 D RGD:7240710 20180130 OMIM 8717997 Flnb filamin B gene DOID:0050680 Boomerang dysplasia ISO RGD:1323621 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia PMID:12955767|PMID:14991055|PMID:17510210|PMID:25741868|PMID:28492532 8717997 Flnb filamin B gene DOID:0060564 spinal disease ISO RGD:1323621 D RGD:9068941 20200609 RGD spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X PMID:14991055|REF_RGD_ID:1601168 8717997 Flnb filamin B gene DOID:0080006 bone development disease ISO RGD:1323621 D RGD:9068941 20200609 RGD Larsen syndrome,OMIM:150250;DNA:point mutation:exon:F161C PMID:14991055|REF_RGD_ID:1601168 8717997 Flnb filamin B gene DOID:0080006 bone development disease ISO RGD:1323621 D RGD:9068941 20200609 RGD boomerang dysplasia, OMIM:112310;DNA:point mutation:exon:L171R,S235P PMID:15994868|REF_RGD_ID:1601170 8717997 Flnb filamin B gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1323621 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FLNB-Related Disorders PMID:16752402|PMID:16801345|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532 8717997 Flnb filamin B gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:1323621 D RGD:7240710 20180130 OMIM 8717997 Flnb filamin B gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome PMID:14991055|PMID:18257094|PMID:18322662|PMID:18386804|PMID:20301736|PMID:25741868|PMID:26380986|PMID:28492532|PMID:29566257 8717997 Flnb filamin B gene DOID:11836 clubfoot ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.4717G>T (p.D1573Y), c.1897A>G(p.M633V,c.2195A>G (p.Y732C)(human) PMID:27395407|REF_RGD_ID:12791025 8717997 Flnb filamin B gene DOID:14764 Larsen syndrome ISO RGD:1323621 D RGD:7240710 20180130 OMIM 8717997 Flnb filamin B gene DOID:14764 Larsen syndrome ISO RGD:1323621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:17576681|PMID:18322662|PMID:20301736|PMID:21620354|PMID:22190451|PMID:24123776|PMID:25741868|PMID:26380986|PMID:26491051|PMID:27048506|PMID:28229453|PMID:28492532|PMID:32369273|PMID:9536098 8717997 Flnb filamin B gene DOID:2256 osteochondrodysplasia ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:missense, deletion mutations:exons: PMID:16752402|REF_RGD_ID:12791027 8717997 Flnb filamin B gene DOID:2256 osteochondrodysplasia ISO RGD:1323621 D RGD:9068941 20200609 RGD atelosteogenesis type I,OMIM:108720;DNA:point mutation:exon:A173V PMID:14991055|REF_RGD_ID:1601168 8717997 Flnb filamin B gene DOID:630 genetic disease ISO RGD:1323621 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14991055|PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:34491919|PMID:9536098 8717997 Flnb filamin B gene DOID:65 connective tissue disease ISO RGD:1323621 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:14991055|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8717997 Flnb filamin B gene DOID:65 connective tissue disease ISO RGD:1323621 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:14991055|PMID:17576681|PMID:20301736|PMID:25741868|PMID:28492532|PMID:9536098 8717997 Flnb filamin B gene DOID:674 cleft palate susceptibility ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:SNPs:: PMID:20634891|REF_RGD_ID:12791026 8717997 Flnb filamin B gene DOID:9001383 Atelosteogenesis Type 1 ISO RGD:1323621 D RGD:7240710 20180130 OMIM 8717997 Flnb filamin B gene DOID:9001383 Atelosteogenesis Type 1 ISO RGD:1323621 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia PMID:14991055|PMID:16752402|PMID:20301736|PMID:22190451|PMID:24624349|PMID:25741868|PMID:28492532 8717997 Flnb filamin B gene DOID:9004353 Larsen Syndromes ISO RGD:1323621 D RGD:9068941 20200609 RGD DNA:deletion, missense mutations:cds: PMID:16801345|REF_RGD_ID:12791029 8717997 Flnb filamin B gene DOID:9004436 Atelosteogenesis Type 3 ISO RGD:1323621 D RGD:7240710 20180130 OMIM 8717997 Flnb filamin B gene DOID:9004436 Atelosteogenesis Type 3 ISO RGD:1323621 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III PMID:14991055|PMID:17576681|PMID:20301736|PMID:22190451|PMID:25741868|PMID:28492532|PMID:9536098 8717997 Flnb filamin B gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1323621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8717997 Flnb filamin B gene DOID:9004979 Knee Dislocation ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Knee dislocation PMID:25741868|PMID:28492532|PMID:31836586 8717997 Flnb filamin B gene DOID:9007661 Dwarfism ISO RGD:1323621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8718050 Awat1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8718050 Awat1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1346796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8718050 Awat1 acyl-CoA wax alcohol acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1346796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718067 Nyap1 neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8718067 Nyap1 neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 gene DOID:630 genetic disease ISO RGD:1602420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718085 Ubl5 ubiquitin like 5 gene DOID:12849 autistic disorder ISO RGD:1351956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8718085 Ubl5 ubiquitin like 5 gene DOID:630 genetic disease ISO RGD:1351956 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:0060649 congenital hereditary endothelial dystrophy of cornea ISO RGD:1320941 D RGD:7240710 20180130 OMIM 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:0060649 congenital hereditary endothelial dystrophy of cornea ISO RGD:1320941 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea | ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of the cornea PMID:16199547|PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17576681|PMID:17679935|PMID:18024964|PMID:18474783|PMID:19369245|PMID:21203343|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24916015|PMID:25500497|PMID:25741868|PMID:25741869|PMID:25811729|PMID:26619383|PMID:28492532|PMID:29327391|PMID:31323090|PMID:31691803|PMID:31714402|PMID:33541055|PMID:34637099|PMID:35985662|PMID:9536098 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320941 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1320941 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Maumenee corneal dystrophy | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:17220209|PMID:17679935|PMID:19369245|PMID:25182519|PMID:25500497|PMID:25741868|PMID:28492532 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:0111620 corneal dystrophy-perceptive deafness syndrome ISO RGD:1320941 D RGD:7240710 20180130 OMIM 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:0111620 corneal dystrophy-perceptive deafness syndrome ISO RGD:1320941 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Corneal dystrophy and sensorineural deafness | ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome PMID:16199547|PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17679935|PMID:18024964|PMID:18363173|PMID:18474783|PMID:19337156|PMID:19369245|PMID:20144242|PMID:21203343|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24348007|PMID:24916015|PMID:25182519|PMID:25500497|PMID:25741868|PMID:25811729|PMID:26467025|PMID:27057589|PMID:27925686|PMID:28263186|PMID:28492532|PMID:28973083|PMID:29327391|PMID:30140924|PMID:31323090|PMID:31420327|PMID:31691803|PMID:31714402|PMID:33816482|PMID:35985662 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:2566 corneal dystrophy ISO RGD:1320941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy PMID:18024964|PMID:18363173|PMID:20144242|PMID:20848555|PMID:23585771|PMID:23922488|PMID:24348007|PMID:25182519|PMID:25741868|PMID:26467025|PMID:28263186|PMID:28492532|PMID:28973083|PMID:29327391|PMID:31263352|PMID:33816482|PMID:34130750 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:630 genetic disease ISO RGD:1320941 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:9004127 Corneal Dystrophy, Fuchs Endothelial, 4 ISO RGD:1320941 D RGD:7240710 20180130 OMIM 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:9004127 Corneal Dystrophy, Fuchs Endothelial, 4 ISO RGD:1320941 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4 PMID:16767101|PMID:17220209|PMID:17679935|PMID:18024964|PMID:19369245|PMID:22072594|PMID:25500497|PMID:25741868|PMID:28492532|PMID:29327391 8718094 Slc4a11 solute carrier family 4 member 11 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1320941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735910 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:0080745 polymyositis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:expression:serum PMID:22394569|REF_RGD_ID:9491763 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:0080855 Parkinsonism ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:19368990|REF_RGD_ID:4891964 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735910 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:10223 dermatomyositis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:expression:serum PMID:22394569|REF_RGD_ID:9491763 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:10457 Legionnaires' disease ISO RGD:731691 D RGD:9068941 20200609 RGD PMID:16113250|REF_RGD_ID:4891897 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:10459 common cold ISO RGD:735910 D RGD:9068941 20200609 RGD PMID:20696083|REF_RGD_ID:4140458 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:10762 portal hypertension ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:21347560|REF_RGD_ID:9491791 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:1205 allergic disease ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:13141 uveitis ISO RGD:620458 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:increased expression:retina PMID:19648777|REF_RGD_ID:4891945 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:1679 cystitis ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium PMID:16651033|REF_RGD_ID:4891972 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:1824 status epilepticus treatment ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:21481949|REF_RGD_ID:9491789 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:224 transient cerebral ischemia ISO RGD:620458 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:24447880|REF_RGD_ID:9491776 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:2527 nephrosis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:19590241|REF_RGD_ID:4891946 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:2841 asthma ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14657873|REF_RGD_ID:4891906 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:2913 acute pancreatitis treatment ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:22213034|REF_RGD_ID:9491790 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus, urine PMID:14605272|REF_RGD_ID:4891995 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:326 ischemia ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:18006432|REF_RGD_ID:4892022 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:3310 atopic dermatitis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15131578|REF_RGD_ID:9491761 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:418 systemic scleroderma ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15608300|REF_RGD_ID:4891898 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:4483 rhinitis ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14657873|REF_RGD_ID:4891906 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:19590241|REF_RGD_ID:4891946 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:5154 borna disease ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:12053272|REF_RGD_ID:4891998 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:552 pneumonia ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:630 genetic disease ISO RGD:735910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:18630689|REF_RGD_ID:4891889 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:735910 D RGD:9068941 20200609 RGD associated with Heart Defects, Congenital PMID:20869263|REF_RGD_ID:4891883 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19948918|REF_RGD_ID:4891887 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:649 prion disease ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte PMID:11870871|REF_RGD_ID:4892001 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735910 D RGD:9068941 20200609 RGD PMID:11465708|REF_RGD_ID:4892002 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:820 myocarditis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle cell PMID:16018993|REF_RGD_ID:4891990 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:850 lung disease ISO RGD:620458 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Endotoxemia;mRNA:increased expression:lung PMID:17302066|REF_RGD_ID:4891892 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:8515 Cor pulmonale ISO RGD:735910 D RGD:9068941 20200609 RGD PMID:20669672|REF_RGD_ID:4143386 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:735910 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:900 hepatopulmonary syndrome ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:lung, plasma PMID:22659346|REF_RGD_ID:9491778 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9000598 Cranial Nerve Injuries ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:15153618|REF_RGD_ID:4891994 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002211 Hyperalgesia ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:19249394|REF_RGD_ID:2304251 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620458 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:22647647|REF_RGD_ID:9491779 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:11465708|REF_RGD_ID:4892002 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002699 Periapical Diseases ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:23829599|REF_RGD_ID:9491793 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:16053521|REF_RGD_ID:4891973 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:19563789|REF_RGD_ID:4891956 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9004538 Hearing Loss ISO RGD:731691 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:cochlea PMID:24781382|REF_RGD_ID:9491762 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005070 Microscopic Polyangiitis severity ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19327232|REF_RGD_ID:9491765 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15153757|REF_RGD_ID:4891992 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:iris, ciliary body, aqueous humor PMID:16030495|REF_RGD_ID:9479740 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005665 Chronic Mesangial Proliferative Glomerulonephritis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:12028445|REF_RGD_ID:9491783 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9005930 Endotoxemia ISO RGD:620458 D RGD:9068941 20200609 RGD protein:increased expression:atrium endocardium PMID:19282612|REF_RGD_ID:4891965 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:620458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:21224760|REF_RGD_ID:4891907 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:18448252|REF_RGD_ID:4891968 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9007244 Paramyxoviridae Infections ISO RGD:731691 D RGD:9068941 20200609 RGD PMID:20053825|REF_RGD_ID:4891886 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9477 pulmonary embolism treatment ISO RGD:620458 D RGD:9068941 20200609 RGD PMID:23578461|REF_RGD_ID:9491777 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9675 pulmonary emphysema ISO RGD:731691 D RGD:9068941 20200609 RGD PMID:18772344|REF_RGD_ID:4891888 8718124 Cx3cl1 C-X3-C motif chemokine ligand 1 gene DOID:9810 polyarteritis nodosa ISO RGD:735910 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23470165|REF_RGD_ID:9068463 8718147 Ak3 adenylate kinase 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:737588 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8718147 Ak3 adenylate kinase 3 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:737588 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell PMID:27078856|REF_RGD_ID:13842476 8718147 Ak3 adenylate kinase 3 gene DOID:630 genetic disease ISO RGD:737588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718147 Ak3 adenylate kinase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737588 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17203974|REF_RGD_ID:13842477 8718174 Xkr9 XK related 9 gene DOID:630 genetic disease ISO RGD:1604439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718196 Nck2 NCK adaptor protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:1314306 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 8718196 Nck2 NCK adaptor protein 2 gene DOID:1184 nephrotic syndrome ISO RGD:1314306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 8718196 Nck2 NCK adaptor protein 2 gene DOID:576 proteinuria ISO RGD:1314306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 8718196 Nck2 NCK adaptor protein 2 gene DOID:630 genetic disease ISO RGD:1314306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718196 Nck2 NCK adaptor protein 2 gene DOID:9001542 Albuminuria ISO RGD:1314306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:0050589 inflammatory bowel disease ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:10283 prostate cancer ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:16533428|PMID:18288643|REF_RGD_ID:2326167|REF_RGD_ID:2326168 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:10611 protein-losing enteropathy ISO RGD:737499 D RGD:7240710 20190315 OMIM 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:10611 protein-losing enteropathy ISO RGD:737499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CD55-related condition | ClinVar Annotator: match by term: Protein-losing enteropathy PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28657829|PMID:28657861|PMID:9536098 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:12849 autistic disorder ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:1540 parathyroid carcinoma ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:1612 breast cancer disease_progression ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:15102687|PMID:18676748|REF_RGD_ID:2326166|REF_RGD_ID:2326170 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:2870 endometrial adenocarcinoma ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:11506079|REF_RGD_ID:2326173 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:289 endometriosis ISO RGD:737499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:4362 cervical cancer ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:9358772|REF_RGD_ID:2293549 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:576 proteinuria ISO RGD:620651 D RGD:9068941 20200609 RGD PMID:12427125|REF_RGD_ID:2326179 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:630 genetic disease ISO RGD:737499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:670 amphetamine abuse ISO RGD:737499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:769 neuroblastoma ISO RGD:620651 D RGD:9068941 20200609 RGD PMID:10850450|REF_RGD_ID:2326181 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:9000469 Viral Myocarditis treatment ISO RGD:737499 D RGD:9068941 20200609 RGD PMID:12533688|REF_RGD_ID:13702890 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:620651 D RGD:9068941 20200609 RGD PMID:20403613|REF_RGD_ID:2326175 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737499 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8718208 Cd55 CD55 molecule (Cromer blood group) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8718235 Pa2g4 proliferation-associated 2G4 gene DOID:630 genetic disease ISO RGD:1354307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718235 Pa2g4 proliferation-associated 2G4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1354307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8718235 Pa2g4 proliferation-associated 2G4 gene DOID:9000918 Disease Progression ISO RGD:1354307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25678704|PMID:26467025|PMID:28492532|PMID:28589176|PMID:29130122 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1348513 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:25741868|PMID:9383023 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1348513 D RGD:7240710 20180130 OMIM 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1348513 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8 PMID:15215304|PMID:16199547|PMID:16616186|PMID:17576681|PMID:17893116|PMID:18414213|PMID:18615734|PMID:21633362|PMID:21731583|PMID:22612257|PMID:23033978|PMID:25568878|PMID:25678704|PMID:25741868|PMID:26467025|PMID:26834553|PMID:27238888|PMID:28492532|PMID:28589176|PMID:28620718|PMID:28708303|PMID:29130122|PMID:30914922|PMID:31054490|PMID:31069529|PMID:32005694|PMID:32593896|PMID:32860008|PMID:32939676|PMID:33860439|PMID:35638461|PMID:9536098 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348513 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532|PMID:35638461 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:1059 intellectual disability ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:12849 autistic disorder ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:1826 epilepsy ISO RGD:1348513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:630 genetic disease ISO RGD:1348513 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16616186|PMID:18414213|PMID:21731583|PMID:22612257|PMID:25568878|PMID:25678704|PMID:25741868|PMID:26467025|PMID:26834553|PMID:28492532|PMID:28589176|PMID:28620718|PMID:29130122|PMID:30914922|PMID:32593896|PMID:35638461 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1348513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21807943 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1348513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17893116|PMID:18615734|PMID:23033978|PMID:25678704|PMID:25741868|PMID:26834553|PMID:28492532|PMID:28589176|PMID:28708303 8718252 Arhgef9 Cdc42 guanine nucleotide exchange factor 9 gene DOID:9008582 Developmental Disease ISO RGD:1348513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25678704|PMID:25741868|PMID:26834553|PMID:28492532|PMID:28589176 8718278 Galc galactosylceramidase gene DOID:0050952 spastic ataxia ISO RGD:1347926 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26795590|PMID:27638593|PMID:28492532|PMID:30777126|PMID:32576985|PMID:34445196 8718278 Galc galactosylceramidase gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1347926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 8718278 Galc galactosylceramidase gene DOID:10579 leukodystrophy ISO RGD:1347926 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:22520351|PMID:25741868|PMID:27638593|PMID:28492532|PMID:29286531|PMID:8940268|PMID:9338580 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:7240710 20180130 OMIM 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32295525|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:35419325|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32295525|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:35013804|PMID:35419325|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:10587 Krabbe disease ISO RGD:1347926 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:1059 intellectual disability ISO RGD:1347926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8718278 Galc galactosylceramidase gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1347926 D RGD:9068941 20200911 RGD mRNA:decreased expression:frontal cortex (human) PMID:30009661|REF_RGD_ID:38599170 8718278 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:9068941 20200911 RGD associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human) PMID:29301655|REF_RGD_ID:38599172 8718278 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:9068941 20200911 RGD associated with Guillain-Barre syndrome; protein:increased expression:serum (human) PMID:12225900|PMID:27490360|REF_RGD_ID:38599168|REF_RGD_ID:38599169 8718278 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1347926 D RGD:9068941 20200911 RGD protein:increased expression:serum (human) PMID:30396892|REF_RGD_ID:38599171 8718278 Galc galactosylceramidase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1552188 D RGD:9068941 20200911 RGD protein:increased expression:serum (mouse) PMID:30396892|REF_RGD_ID:38599171 8718278 Galc galactosylceramidase gene DOID:630 genetic disease ISO RGD:1347926 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20301416|PMID:20886637|PMID:21824559|PMID:21876145|PMID:22115770|PMID:22520351|PMID:23319190|PMID:24252386|PMID:24297913|PMID:25741868|PMID:26795590|PMID:26865610|PMID:27126738|PMID:27171547|PMID:27638583|PMID:27638592|PMID:27638593|PMID:28492532|PMID:30777126|PMID:32089546|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:8281145|PMID:8399327|PMID:8940268|PMID:9338580|PMID:9536098 8718278 Galc galactosylceramidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8718278 Galc galactosylceramidase gene DOID:9006534 Nervous System Malformations ISO RGD:1347926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:16607461|PMID:22115770|PMID:22520351|PMID:25741868|PMID:26795590|PMID:28492532|PMID:28547031|PMID:7437911|PMID:9272171 8718303 Lratd2 LRAT domain containing 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8718303 Lratd2 LRAT domain containing 2 gene DOID:630 genetic disease ISO RGD:1606136 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718309 Hoxb2 homeobox B2 gene DOID:630 genetic disease ISO RGD:1320419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718318 Dynap dynactin associated protein gene DOID:1059 intellectual disability ISO RGD:1344523 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8718318 Dynap dynactin associated protein gene DOID:630 genetic disease ISO RGD:1344523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080414 developmental and epileptic encephalopathy 15 ISO RGD:1603708 D RGD:7240710 20180130 OMIM 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080414 developmental and epileptic encephalopathy 15 ISO RGD:1603708 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 15 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15 | ClinVar Annotator: match by term: Epilepsy due to perinatal stroke PMID:16199547|PMID:18414213|PMID:23252400|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30089820|PMID:31584066 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0081180 autosomal recessive intellectual developmental disorder 12 ISO RGD:1603708 D RGD:7240710 20180130 OMIM 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0081180 autosomal recessive intellectual developmental disorder 12 ISO RGD:1603708 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 12 PMID:17120046|PMID:18414213|PMID:21907012|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:32666583 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532|PMID:32666583 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1603708 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1603708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:28492532 8718319 St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 gene DOID:9007114 Mobility Limitation ISO RGD:1603708 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:25741868|PMID:32666583 8718368 Tinag tubulointerstitial nephritis antigen gene DOID:630 genetic disease ISO RGD:1346434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718368 Tinag tubulointerstitial nephritis antigen gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:0080205 CAKUT ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28381549|PMID:30143558 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1323522 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:11476 osteoporosis ISO RGD:1323522 D RGD:9068941 20200609 RGD DNA:silent mutation, haplotype:p.G75G (human) PMID:16530497|REF_RGD_ID:10045825 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:2843 long QT syndrome ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:5844 myocardial infarction ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:6000 congestive heart failure ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1323522 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:1323522 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:p.G75G (human) PMID:22335445|REF_RGD_ID:10045849 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27348297 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:9008581 CAKUT3 ISO RGD:1323522 D RGD:7240710 20190315 OMIM 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:9008581 CAKUT3 ISO RGD:1323522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 | ClinVar Annotator: match by term: NRIP1-related condition PMID:25741868|PMID:28381549|PMID:28492532|PMID:30143558 8718383 Nrip1 nuclear receptor interacting protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267197 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1605622 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:1605622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:303 substance-related disorder ISO RGD:1605622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:630 genetic disease ISO RGD:1605622 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:9008628 Familial Thoracic Aortic Aneurysm 12 ISO RGD:1605622 D RGD:7240710 20220413 OMIM 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:9008628 Familial Thoracic Aortic Aneurysm 12 ISO RGD:1605622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 PMID:25741868|PMID:32855533 8718414 Thsd4 thrombospondin type 1 domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:1605622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:733329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Orofacial-digital syndrome IV PMID:28492532 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0110815 hereditary spastic paraplegia 64 ISO RGD:733329 D RGD:7240710 20180130 OMIM 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:0110815 hereditary spastic paraplegia 64 ISO RGD:733329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 64 PMID:17576681|PMID:24482476|PMID:25741868|PMID:28492532|PMID:29691679|PMID:30652007|PMID:35471564|PMID:9536098 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1059 intellectual disability ISO RGD:733329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:733329 D RGD:9068941 20200609 RGD protein:decreased expression:abdominal fascia: PMID:17469012|REF_RGD_ID:9685457 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1459 hypothyroidism ISO RGD:69265 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:hippocampus: PMID:15811553|REF_RGD_ID:9685476 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:69265 D RGD:9068941 20200609 RGD protein:decreased activity,altered location:liver: PMID:11383876|REF_RGD_ID:9685454 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:224 transient cerebral ischemia ISO RGD:69265 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:9634555|REF_RGD_ID:9685492 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:3213 demyelinating disease ISO RGD:69265 D RGD:9068941 20200609 RGD PMID:17239402|REF_RGD_ID:9685485 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:630 genetic disease ISO RGD:733329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9001036 Penetrating Head Injuries ISO RGD:69265 D RGD:9068941 20200609 RGD protein:increased expression,increased activity:cerebral cortex: PMID:16672190|REF_RGD_ID:9685448 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9002514 Neointima treatment ISO RGD:733329 D RGD:9068941 20200609 RGD PMID:18485080|REF_RGD_ID:9685444 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:69265 D RGD:9068941 20200609 RGD PMID:19524108|REF_RGD_ID:9685491 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9004283 Transplant Rejection ISO RGD:733330 D RGD:9068941 20200609 RGD PMID:10656876|REF_RGD_ID:9685445 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9004484 Sepsis ISO RGD:69265 D RGD:9068941 20200609 RGD protein:increased activity:lymphocyte: PMID:22645477|REF_RGD_ID:9685487 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69265 D RGD:9068941 20200609 RGD protein,mRNA:increased expression:glial cell, retina: PMID:18687327|REF_RGD_ID:9685473 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69265 D RGD:9068941 20200609 RGD protein:enzyme activity:platelet PMID:17119848|REF_RGD_ID:9685486 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9005725 Iron Overload ISO RGD:69265 D RGD:9068941 20200609 RGD protein:enzyme activity:platelet PMID:17119848|REF_RGD_ID:9685486 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8718430 Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 gene DOID:9008217 Hemorrhage ISO RGD:733330 D RGD:9068941 20200609 RGD PMID:10470077|REF_RGD_ID:735004 8718456 Usp47 ubiquitin specific peptidase 47 gene DOID:1059 intellectual disability ISO RGD:1321301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8718456 Usp47 ubiquitin specific peptidase 47 gene DOID:630 genetic disease ISO RGD:1321301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718496 Hoxd3 homeobox D3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1344554 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8718496 Hoxd3 homeobox D3 gene DOID:630 genetic disease ISO RGD:1344554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718496 Hoxd3 homeobox D3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19283074 8718507 Cetn2 centrin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8718507 Cetn2 centrin 2 gene DOID:12849 autistic disorder ISO RGD:736112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8718507 Cetn2 centrin 2 gene DOID:630 genetic disease ISO RGD:736112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718527 Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0080690 RASopathy ISO RGD:1605836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8718527 Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1605836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8718527 Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1605836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8718527 Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 gene DOID:630 genetic disease ISO RGD:1605836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718567 Ankrd34c ankyrin repeat domain 34C gene DOID:2717 Bloom syndrome ISO RGD:2291762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8718567 Ankrd34c ankyrin repeat domain 34C gene DOID:630 genetic disease ISO RGD:2291762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718567 Ankrd34c ankyrin repeat domain 34C gene DOID:9256 colorectal cancer ISO RGD:2291762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8718576 Amer2 APC membrane recruitment protein 2 gene DOID:630 genetic disease ISO RGD:1604720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718582 Zzef1 zinc finger ZZ-type and EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1322516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718653 Mboat1 membrane bound O-acyltransferase domain containing 1 gene DOID:13580 cholestasis ISO RGD:1322766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8718653 Mboat1 membrane bound O-acyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1322766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718667 Lenep lens epithelial protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8718667 Lenep lens epithelial protein gene DOID:0111940 immunodeficiency 42 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8718667 Lenep lens epithelial protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8718667 Lenep lens epithelial protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8718667 Lenep lens epithelial protein gene DOID:1540 parathyroid carcinoma ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8718667 Lenep lens epithelial protein gene DOID:5812 MHC class II deficiency ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8718667 Lenep lens epithelial protein gene DOID:630 genetic disease ISO RGD:69166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718667 Lenep lens epithelial protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8718679 Kiss1r KISS1 receptor gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8718679 Kiss1r KISS1 receptor gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:731975 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8718679 Kiss1r KISS1 receptor gene DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia ISO RGD:731975 D RGD:7240710 20180130 OMIM 8718679 Kiss1r KISS1 receptor gene DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia PMID:12788881|PMID:12944565|PMID:14573733|PMID:17164310|PMID:18772143|PMID:20371656|PMID:23349759|PMID:23643382|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31073722 8718679 Kiss1r KISS1 receptor gene DOID:0112310 central precocious puberty 1 ISO RGD:731975 D RGD:7240710 20180130 OMIM 8718679 Kiss1r KISS1 receptor gene DOID:0112310 central precocious puberty 1 ISO RGD:731975 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Precocious puberty, central, 1 PMID:17164310|PMID:18272894|PMID:23349759|PMID:25741868|PMID:26467025|PMID:28492532 8718679 Kiss1r KISS1 receptor gene DOID:11383 cryptorchidism ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:15598687|PMID:28492532|PMID:29452377 8718679 Kiss1r KISS1 receptor gene DOID:1612 breast cancer severity ISO RGD:731975 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:high levels of both KISS1 and KISS1R in ERalpha+ tumors treated with tamoxifen associated with shorter relapse-free survival PMID:17914099|REF_RGD_ID:2292123 8718679 Kiss1r KISS1 receptor gene DOID:1921 Klinefelter syndrome ISO RGD:731975 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8718679 Kiss1r KISS1 receptor gene DOID:1924 hypogonadism ISO RGD:731975 D RGD:9068941 20200609 RGD Hypogonadotropic hypogonadism, OMIM:146110 DNA:deletion:exon:155-bp deletion of the intron4/exon5 splice acceptor site and part of exon 5 PMID:12944565|REF_RGD_ID:1599279 8718679 Kiss1r KISS1 receptor gene DOID:2671 transitional cell carcinoma severity ISO RGD:731975 D RGD:9068941 20200609 RGD urinary bladder TCC; mRNA:increased expression:tumor:versus normal bladder, with significantly higher expression in high-grade vs low-grade tumors (p=0.03) PMID:17164231|REF_RGD_ID:2292127 8718679 Kiss1r KISS1 receptor gene DOID:3113 papillary carcinoma ISO RGD:731975 D RGD:9068941 20200609 RGD PMID:11994395|REF_RGD_ID:1599280 8718679 Kiss1r KISS1 receptor gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:731975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 8718679 Kiss1r KISS1 receptor gene DOID:5339 cyclic hematopoiesis ISO RGD:731975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8718679 Kiss1r KISS1 receptor gene DOID:630 genetic disease ISO RGD:731975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8718679 Kiss1r KISS1 receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:731975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8718679 Kiss1r KISS1 receptor gene DOID:9001239 Delayed Puberty ISO RGD:731975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527035 8718679 Kiss1r KISS1 receptor gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:731975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8718679 Kiss1r KISS1 receptor gene DOID:9007284 Precocious Puberty ISO RGD:731975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8718688 Fah fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I ISO RGD:733367 D RGD:7240710 20180425 OMIM 8718688 Fah fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I ISO RGD:733367 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:10073910|PMID:10508789|PMID:11196105|PMID:11278491|PMID:11476670|PMID:11754109|PMID:12203990|PMID:12555948|PMID:1401056|PMID:14691918|PMID:15187789|PMID:15465000|PMID:15638932|PMID:16199547|PMID:16521249|PMID:17576681|PMID:19569981|PMID:19763152|PMID:20301688|PMID:20307669|PMID:21117323|PMID:21752152|PMID:21764616|PMID:22145516|PMID:22406018|PMID:22554029|PMID:22802474|PMID:22884142|PMID:22975760|PMID:23000314|PMID:23193487|PMID:23225041|PMID:23348723|PMID:23430822|PMID:23430836|PMID:23895425|PMID:23927806|PMID:24016420|PMID:24033266|PMID:24516753|PMID:24555242|PMID:24756054|PMID:25081276|PMID:25087612|PMID:25256450|PMID:25525159|PMID:25564536|PMID:25681080|PMID:25741868|PMID:26565546|PMID:27093575|PMID:27397503|PMID:27814443|PMID:28039895|PMID:28468868|PMID:28492532|PMID:28755182|PMID:28755192|PMID:29326876|PMID:29497141|PMID:30414057|PMID:30581635|PMID:306090409|PMID:30954369|PMID:31030436|PMID:31300554|PMID:31568711|PMID:31965297|PMID:31998365|PMID:32832707|PMID:33083013|PMID:34023347|PMID:35800472|PMID:7550234|PMID:7757089|PMID:7929843|PMID:7942842|PMID:7977370|PMID:8005583|PMID:8028615|PMID:8076937|PMID:8162054|PMID:8204664|PMID:8318997|PMID:8364576|PMID:8557261|PMID:8723690|PMID:8723698|PMID:8821854|PMID:8829657|PMID:9101289|PMID:9536098|PMID:9633815|PMID:9705236 8718688 Fah fumarylacetoacetate hydrolase gene DOID:0050726 tyrosinemia type I treatment ISO RGD:62225 D RGD:9068941 20200609 RGD PMID:30368954|REF_RGD_ID:14401588 8718688 Fah fumarylacetoacetate hydrolase gene DOID:0080600 COVID-19 ISO RGD:733367 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8718688 Fah fumarylacetoacetate hydrolase gene DOID:10763 hypertension ISO RGD:61932 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15731461|REF_RGD_ID:1559295 8718688 Fah fumarylacetoacetate hydrolase gene DOID:2717 Bloom syndrome ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8718688 Fah fumarylacetoacetate hydrolase gene DOID:409 liver disease ISO RGD:62225 D RGD:9068941 20200609 RGD PMID:7545495|REF_RGD_ID:737742 8718688 Fah fumarylacetoacetate hydrolase gene DOID:5082 liver cirrhosis ISO RGD:61932 D RGD:9068941 20200609 RGD PMID:27510266|REF_RGD_ID:14398823 8718688 Fah fumarylacetoacetate hydrolase gene DOID:630 genetic disease ISO RGD:733367 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8718688 Fah fumarylacetoacetate hydrolase gene DOID:687 hepatoblastoma ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 8718688 Fah fumarylacetoacetate hydrolase gene DOID:9007874 Liver Failure ISO RGD:61932 D RGD:9068941 20200609 RGD PMID:27510266|REF_RGD_ID:14398823 8718688 Fah fumarylacetoacetate hydrolase gene DOID:9256 colorectal cancer ISO RGD:733367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8718688 Fah fumarylacetoacetate hydrolase gene DOID:9275 tyrosinemia ISO RGD:733367 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: FAH deficiency | ClinVar Annotator: match by term: Fumarylacetoacetase deficiency | ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosinemia PMID:11278491|PMID:11754109|PMID:12203990|PMID:14691918|PMID:15638932|PMID:17576681|PMID:20301688|PMID:21752152|PMID:22554029|PMID:22975760|PMID:23193487|PMID:23430822|PMID:23895425|PMID:24033266|PMID:25081276|PMID:25087612|PMID:25525159|PMID:25681080|PMID:25741868|PMID:26565546|PMID:27814443|PMID:28492532|PMID:28755192|PMID:29326876|PMID:29497141|PMID:30414057|PMID:306090409|PMID:31300554|PMID:7757089|PMID:7929843|PMID:7942842|PMID:7977370|PMID:8028615|PMID:8076937|PMID:8318997|PMID:8557261|PMID:8821854|PMID:8829657|PMID:9101289|PMID:9536098|PMID:9633815|PMID:9705236 8718710 Cpeb2 cytoplasmic polyadenylation element binding protein 2 gene DOID:630 genetic disease ISO RGD:1316707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0050700 cardiomyopathy ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20378996 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:732730 D RGD:9068941 20240229 RGD DNA:SNP:: (rs2856966) (human) PMID:20554694|REF_RGD_ID:401976551 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16322346 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0080855 Parkinsonism ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:16888218|REF_RGD_ID:2325295 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:15702783|REF_RGD_ID:2325308 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:12849 autistic disorder ISO RGD:732730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:1679 cystitis ISO RGD:2037 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder urothelium PMID:18563302|REF_RGD_ID:2315964 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:2018 hyperinsulinism ISO RGD:10084 D RGD:9068941 20200609 RGD PMID:14742740|REF_RGD_ID:2325255 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:3602 toxic encephalopathy ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29604313 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:630 genetic disease ISO RGD:732730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:15913892|REF_RGD_ID:2325306 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord,dorsal root ganglion, urinary bladder PMID:15698618|REF_RGD_ID:2325309 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9000998 Brain Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD PMID:16689670|REF_RGD_ID:2325298 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9001366 Psychomotor Agitation ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17658665 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9002221 Hyperplasia ISO RGD:10084 D RGD:9068941 20200609 RGD PMID:14742740|REF_RGD_ID:2325255 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9003165 Miosis ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8637627 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9004001 Facial Nerve Injuries ISO RGD:2037 D RGD:9068941 20200609 RGD mRNA:increased expression:facial VII nucleus PMID:19427307|REF_RGD_ID:2325258 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2037 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampal granule cell PMID:19647005|REF_RGD_ID:2315956 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2037 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, hypothalamus PMID:9864055|REF_RGD_ID:2325314 8718744 Adcyap1 adenylate cyclase activating polypeptide 1 gene DOID:9009039 Hyperemia ISO RGD:732730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8637627 8718756 Fgd2 FYVE, RhoGEF and PH domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1320399 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8718756 Fgd2 FYVE, RhoGEF and PH domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1320399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8718756 Fgd2 FYVE, RhoGEF and PH domain containing 2 gene DOID:5119 ovarian cyst ISO RGD:1320399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8718756 Fgd2 FYVE, RhoGEF and PH domain containing 2 gene DOID:630 genetic disease ISO RGD:1320399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718814 Eea1 early endosome antigen 1 gene DOID:630 genetic disease ISO RGD:1320911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1348865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:1348865 D RGD:7240710 20180130 OMIM 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:1348865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency PMID:10560675|PMID:11529920|PMID:12067308|PMID:1570316|PMID:16199547|PMID:17576681|PMID:23662797|PMID:24033266|PMID:25741868|PMID:26122175|PMID:28492532|PMID:7517574|PMID:9536098 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0060704 lymphoproliferative syndrome susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:10560675|REF_RGD_ID:1601413 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:21796142|REF_RGD_ID:5147839 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:1025 tuberculoid leprosy susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:9062973|REF_RGD_ID:5147851 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:10316 pneumoconiosis ISO RGD:1348865 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNP: :(rs241448)(human) PMID:16595160|REF_RGD_ID:6482265 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:12206 dengue hemorrhagic fever susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18071882|REF_RGD_ID:6482261 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:1577 limited scleroderma susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:16112028|REF_RGD_ID:1578361 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:16112028|REF_RGD_ID:1578361 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.V379I, A565T(human) PMID:7928442|REF_RGD_ID:6482280 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis no_association ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.V379I, A565T(human) PMID:7797617|REF_RGD_ID:6482281 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:synonymous mutation: : PMID:7759306|REF_RGD_ID:6482279 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2893 cervix carcinoma susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNP: :(rs4148876)(human) PMID:17366619|REF_RGD_ID:6482264 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:9062973|REF_RGD_ID:5147851 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:3042 allergic contact dermatitis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:9303338|REF_RGD_ID:6482276 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348865 D RGD:9068941 20200609 RGD protein:decreased expression:esophagus PMID:19492245|REF_RGD_ID:6482249 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18248301|REF_RGD_ID:6482260 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:12648582|REF_RGD_ID:6482272 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:6196 reactive arthritis ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:7748224|REF_RGD_ID:6482278 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:630 genetic disease ISO RGD:1348865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:7147 ankylosing spondylitis ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19480848|REF_RGD_ID:6482250 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:7148 rheumatoid arthritis ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:9645419|REF_RGD_ID:6482275 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:8893 psoriasis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.T665A, Q687Q(human) PMID:17581627|REF_RGD_ID:6482263 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9007425 Diffuse Panbronchiolitis susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon: PMID:10323341|REF_RGD_ID:5147847 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:9014588|REF_RGD_ID:6482277 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:12634240|REF_RGD_ID:6482273 8718847 Tap2 transporter 2, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348865 D RGD:9068941 20200609 RGD PMID:1300236|PMID:17192492|REF_RGD_ID:2312368|REF_RGD_ID:2312373 8718868 Ttc22 tetratricopeptide repeat domain 22 gene DOID:630 genetic disease ISO RGD:1605998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718879 Stx18 syntaxin 18 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8718879 Stx18 syntaxin 18 gene DOID:630 genetic disease ISO RGD:1320740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718908 Rnf181 ring finger protein 181 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1602715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8718908 Rnf181 ring finger protein 181 gene DOID:630 genetic disease ISO RGD:1602715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718917 Lims2 LIM zinc finger domain containing 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1313204 D RGD:7240710 20190315 OMIM 8718917 Lims2 LIM zinc finger domain containing 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1313204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:16199547|PMID:17576681|PMID:25589244|PMID:25741868|PMID:28492532|PMID:9536098 8718917 Lims2 LIM zinc finger domain containing 2 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1313204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 8718917 Lims2 LIM zinc finger domain containing 2 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1313204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8718917 Lims2 LIM zinc finger domain containing 2 gene DOID:1227 neutropenia ISO RGD:1313204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 8718917 Lims2 LIM zinc finger domain containing 2 gene DOID:630 genetic disease ISO RGD:1313204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25589244|PMID:25741868|PMID:28492532 8718955 Dao D-amino acid oxidase gene DOID:12849 autistic disorder ISO RGD:1350103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17629951 8718955 Dao D-amino acid oxidase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:25741868 8718955 Dao D-amino acid oxidase gene DOID:5419 schizophrenia ISO RGD:1350103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 8718955 Dao D-amino acid oxidase gene DOID:5419 schizophrenia susceptibility ISO RGD:1350103 D RGD:9068941 20200806 RGD DNA:SNPs: : PMID:14966479|REF_RGD_ID:1358627 8718955 Dao D-amino acid oxidase gene DOID:630 genetic disease ISO RGD:1350103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718955 Dao D-amino acid oxidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8718979 Edem1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:0060478 Zika fever ISO RGD:1557813 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 8718979 Edem1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:630 genetic disease ISO RGD:1349759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718979 Edem1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8718979 Edem1 ER degradation enhancing alpha-mannosidase like protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8718994 Fra10ac1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1319845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 8718994 Fra10ac1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 gene DOID:630 genetic disease ISO RGD:1319845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8718994 Fra10ac1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 gene DOID:9000628 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities ISO RGD:1319845 D RGD:7240710 20221123 OMIM 8718994 Fra10ac1 fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 gene DOID:9000628 Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities ISO RGD:1319845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities PMID:25741868|PMID:34694367|PMID:35821753|PMID:35871492 8719040 Gpr22 G protein-coupled receptor 22 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1321987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG5-CDG PMID:23228021|PMID:28492532 8719040 Gpr22 G protein-coupled receptor 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8719040 Gpr22 G protein-coupled receptor 22 gene DOID:630 genetic disease ISO RGD:1321987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719051 Ca3 carbonic anhydrase 3 gene DOID:10316 pneumoconiosis ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 8719051 Ca3 carbonic anhydrase 3 gene DOID:630 genetic disease ISO RGD:1353547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719051 Ca3 carbonic anhydrase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8719051 Ca3 carbonic anhydrase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8719051 Ca3 carbonic anhydrase 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8719051 Ca3 carbonic anhydrase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8719051 Ca3 carbonic anhydrase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8719051 Ca3 carbonic anhydrase 3 gene DOID:9452 steatotic liver disease ISO RGD:1332219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8719051 Ca3 carbonic anhydrase 3 gene DOID:9970 obesity ISO RGD:1353547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8719062 Slc66a3 solute carrier family 66 member 3 gene DOID:5419 schizophrenia ISO RGD:1315648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8719062 Slc66a3 solute carrier family 66 member 3 gene DOID:630 genetic disease ISO RGD:1315648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719062 Slc66a3 solute carrier family 66 member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315648 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8719062 Slc66a3 solute carrier family 66 member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1315648 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 8719073 Alkal2 ALK and LTK ligand 2 gene DOID:630 genetic disease ISO RGD:1602961 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719081 C3 complement C3 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing:erythrocyte PMID:6915939|REF_RGD_ID:11040769 8719081 C3 complement C3 gene DOID:0080162 lupus nephritis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21888025|REF_RGD_ID:7175544 8719081 C3 complement C3 gene DOID:0080162 lupus nephritis ISO RGD:735504 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20301541|PMID:20595690|PMID:21125405|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:28492532|PMID:28596415|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:32950058|PMID:33213850 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21125405|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:29500241|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32950058|PMID:33213850 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21125405|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25188723|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21810760|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28752844|PMID:28939980|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:35295324 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735504 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:14639503|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20203157|PMID:20301541|PMID:20595690|PMID:21810760|PMID:22246034|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25608561|PMID:25741868|PMID:25879158|PMID:25951460|PMID:26283675|PMID:26559391|PMID:26613027|PMID:28187980|PMID:28492532|PMID:28596415|PMID:28752844|PMID:28939980|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30773290|PMID:30890598|PMID:31865800|PMID:32265146|PMID:32342491|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33456446|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34973142|PMID:35295324 8719081 C3 complement C3 gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:735504 D RGD:7240710 20240308 OMIM 8719081 C3 complement C3 gene DOID:0080490 mucolipidosis type IV ISO RGD:735504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8719081 C3 complement C3 gene DOID:0080600 COVID-19 severity ISO RGD:735504 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32434211|REF_RGD_ID:30310238 8719081 C3 complement C3 gene DOID:0080600 COVID-19 severity ISO RGD:735504 D RGD:9068941 20200813 RGD DNA:SNPs: :rs1047286,rs2230203,rs2230199(human) PMID:32747830|REF_RGD_ID:38500238 8719081 C3 complement C3 gene DOID:0080750 erythema nodosum ISO RGD:735504 D RGD:9068941 20200609 RGD associated with Leprosy PMID:2783924|REF_RGD_ID:7421527 8719081 C3 complement C3 gene DOID:0110019 age related macular degeneration 7 ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:19899988|REF_RGD_ID:7401252 8719081 C3 complement C3 gene DOID:0110021 age related macular degeneration 9 ISO RGD:735504 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO PMID:12462331|PMID:14639503|PMID:16687714|PMID:17576681|PMID:17634448|PMID:17767156|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19259132|PMID:19590060|PMID:1976733|PMID:20595690|PMID:20664795|PMID:21501302|PMID:21576320|PMID:21810760|PMID:22669319|PMID:22718507|PMID:23112567|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23455636|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25431709|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:27722136|PMID:28492532|PMID:28596415|PMID:28752844|PMID:28939980|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30890598|PMID:31042289|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34973142|PMID:35295324|PMID:7870343|PMID:9536098 8719081 C3 complement C3 gene DOID:0110021 age related macular degeneration 9 susceptibility ISO RGD:735504 D RGD:7240710 20240308 OMIM 8719081 C3 complement C3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:10256 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:17960140|REF_RGD_ID:7175542 8719081 C3 complement C3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:735504 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:17960140|REF_RGD_ID:7175542 8719081 C3 complement C3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:17634448|PMID:18325906|PMID:19168221|PMID:1976733|PMID:25741868|PMID:28492532 8719081 C3 complement C3 gene DOID:10247 pleurisy ISO RGD:10256 D RGD:9068941 20200609 RGD protein:increased activity:pleural cavity PMID:18256172|REF_RGD_ID:5129520 8719081 C3 complement C3 gene DOID:10325 silicosis ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:12096683|REF_RGD_ID:5129516 8719081 C3 complement C3 gene DOID:10591 pre-eclampsia treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23685261|REF_RGD_ID:7411624 8719081 C3 complement C3 gene DOID:10652 Alzheimer's disease ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP: :rs22300199 (human) PMID:22300950|REF_RGD_ID:7401250 8719081 C3 complement C3 gene DOID:10690 mastitis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:8746955|REF_RGD_ID:7401278 8719081 C3 complement C3 gene DOID:10754 otitis media IDA D RGD:11554035|PMID:19139190 20161019 RGD 8719081 C3 complement C3 gene DOID:10763 hypertension ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:22416803|REF_RGD_ID:11040890 8719081 C3 complement C3 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP: :rs2241394 (human) PMID:22174912|REF_RGD_ID:7401249 8719081 C3 complement C3 gene DOID:10887 lepromatous leprosy severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:6342123|REF_RGD_ID:7411735 8719081 C3 complement C3 gene DOID:10923 sickle cell anemia severity ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:3896597|REF_RGD_ID:11040777 8719081 C3 complement C3 gene DOID:10923 sickle cell anemia severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing PMID:7554454|REF_RGD_ID:11040773 8719081 C3 complement C3 gene DOID:10976 membranous glomerulonephritis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:10729746|REF_RGD_ID:5129563 8719081 C3 complement C3 gene DOID:10976 membranous glomerulonephritis ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25954969 8719081 C3 complement C3 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1353212 8719081 C3 complement C3 gene DOID:11339 pneumocystosis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:17169032|REF_RGD_ID:5129525 8719081 C3 complement C3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased activation:respiratory system fluid/secretion PMID:3826891|REF_RGD_ID:5130153 8719081 C3 complement C3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2784515|REF_RGD_ID:5129694 8719081 C3 complement C3 gene DOID:11446 sciatic neuropathy ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:18052971|REF_RGD_ID:5129535 8719081 C3 complement C3 gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:aqueous humour PMID:21139973|REF_RGD_ID:7401271 8719081 C3 complement C3 gene DOID:12134 factor VIII deficiency ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:6912882|REF_RGD_ID:11041156 8719081 C3 complement C3 gene DOID:12306 vitiligo ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:12121667|REF_RGD_ID:7401277 8719081 C3 complement C3 gene DOID:12894 Sjogren's syndrome ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:17675493|REF_RGD_ID:7401265 8719081 C3 complement C3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16687714|PMID:17634448|PMID:17767156|PMID:18325906|PMID:19168221|PMID:19259132|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:23455636|PMID:25741868|PMID:28492532|PMID:7870343 8719081 C3 complement C3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:altered expression:lung PMID:18069416|REF_RGD_ID:5129502 8719081 C3 complement C3 gene DOID:1407 anterior uveitis ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:eye anterior chamber, ciliary body, iris PMID:16751365|REF_RGD_ID:1600478 8719081 C3 complement C3 gene DOID:1407 anterior uveitis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:6610667|REF_RGD_ID:7411736 8719081 C3 complement C3 gene DOID:14095 boutonneuse fever ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3361150|REF_RGD_ID:11041575 8719081 C3 complement C3 gene DOID:1909 melanoma treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:17146472|REF_RGD_ID:7401279 8719081 C3 complement C3 gene DOID:224 transient cerebral ischemia ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23199288 8719081 C3 complement C3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:22004711|REF_RGD_ID:7411628 8719081 C3 complement C3 gene DOID:2316 brain ischemia ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:14561876|REF_RGD_ID:5129543 8719081 C3 complement C3 gene DOID:2452 thrombophilia treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:15986360|REF_RGD_ID:11040779 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:11591733|REF_RGD_ID:5129517 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:10256 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20802484|REF_RGD_ID:5129681 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:20402389|REF_RGD_ID:5129537 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP: :4896C>T (human) PMID:15278436|REF_RGD_ID:5129512 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs11569562 (human) PMID:18566738|REF_RGD_ID:5129501 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:16355111|REF_RGD_ID:5129505 8719081 C3 complement C3 gene DOID:2841 asthma ISO RGD:735504 D RGD:9068941 20200609 RGD Interaction with IL4RA PMID:20395963|REF_RGD_ID:5129538 8719081 C3 complement C3 gene DOID:2841 asthma severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20589464|REF_RGD_ID:5129519 8719081 C3 complement C3 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis PMID:32581362 8719081 C3 complement C3 gene DOID:2921 glomerulonephritis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:11950907|REF_RGD_ID:5129550 8719081 C3 complement C3 gene DOID:2957 pulmonary tuberculosis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:19472039|REF_RGD_ID:5129500 8719081 C3 complement C3 gene DOID:2986 IgA glomerulonephritis ISO RGD:735504 D RGD:9068941 20200609 RGD mRNA,protein:increased expression, increased activity:kidney PMID:11287758|REF_RGD_ID:7175543 8719081 C3 complement C3 gene DOID:3021 acute kidney failure ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8719081 C3 complement C3 gene DOID:3070 high grade glioma treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:21678475|REF_RGD_ID:7401275 8719081 C3 complement C3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17975205|REF_RGD_ID:5129504 8719081 C3 complement C3 gene DOID:321 tropical spastic paraparesis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing:plasma PMID:7561187|REF_RGD_ID:11040775 8719081 C3 complement C3 gene DOID:3310 atopic dermatitis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:3923750|REF_RGD_ID:7401273 8719081 C3 complement C3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:19050293|REF_RGD_ID:5130169 8719081 C3 complement C3 gene DOID:3525 middle cerebral artery infarction ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22103620|REF_RGD_ID:7175514 8719081 C3 complement C3 gene DOID:3525 middle cerebral artery infarction ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23199288 8719081 C3 complement C3 gene DOID:418 systemic scleroderma ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2803327|REF_RGD_ID:7421518 8719081 C3 complement C3 gene DOID:4448 macular degeneration ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:25741868|PMID:28492532 8719081 C3 complement C3 gene DOID:4483 rhinitis ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:17345707|REF_RGD_ID:5129524 8719081 C3 complement C3 gene DOID:4483 rhinitis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:20109314|REF_RGD_ID:5129539 8719081 C3 complement C3 gene DOID:5162 arteriolosclerosis ISO RGD:735504 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum: PMID:22863782|REF_RGD_ID:7175516 8719081 C3 complement C3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:7561187|REF_RGD_ID:11040775 8719081 C3 complement C3 gene DOID:5426 primary ovarian insufficiency ISO RGD:735504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532|PMID:31042289 8719081 C3 complement C3 gene DOID:552 pneumonia ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:10886251|REF_RGD_ID:5129562 8719081 C3 complement C3 gene DOID:557 kidney disease ISO RGD:735504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532|PMID:29888403 8719081 C3 complement C3 gene DOID:5844 myocardial infarction ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:16996480|REF_RGD_ID:1600605 8719081 C3 complement C3 gene DOID:589 congenital hemolytic anemia ISO RGD:735504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 8719081 C3 complement C3 gene DOID:612 primary immunodeficiency disease ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1350678 8719081 C3 complement C3 gene DOID:6195 conjunctivitis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:3875643|REF_RGD_ID:7421524 8719081 C3 complement C3 gene DOID:630 genetic disease ISO RGD:735504 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16687714|PMID:17634448|PMID:17767156|PMID:18325906|PMID:19168221|PMID:19259132|PMID:1976733|PMID:20664795|PMID:21576320|PMID:22718507|PMID:23112567|PMID:23455636|PMID:25741868|PMID:28492532|PMID:7870343 8719081 C3 complement C3 gene DOID:684 hepatocellular carcinoma ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23245919|REF_RGD_ID:11040806 8719081 C3 complement C3 gene DOID:7148 rheumatoid arthritis ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:7561187|REF_RGD_ID:11040775 8719081 C3 complement C3 gene DOID:8354 complement component 3 deficiency ISO RGD:735504 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: C3 deficiency | ClinVar Annotator: match by term: Complement component 3 deficiency | ClinVar Annotator: match by term: Complement component 3 deficiency, autosomal recessive PMID:1350678|PMID:14639503|PMID:15781264|PMID:17634448|PMID:18325906|PMID:18796626|PMID:19168221|PMID:19590060|PMID:1976733|PMID:20595690|PMID:21810760|PMID:22669319|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23847193|PMID:24029428|PMID:24036949|PMID:24036950|PMID:24036952|PMID:24736606|PMID:24845532|PMID:25608561|PMID:25741868|PMID:25951460|PMID:26283675|PMID:26613027|PMID:28492532|PMID:28596415|PMID:28752844|PMID:28939980|PMID:29500241|PMID:29566171|PMID:29670616|PMID:29888403|PMID:30046676|PMID:30131807|PMID:30377230|PMID:30890598|PMID:32424742|PMID:32950058|PMID:33213850|PMID:33609329|PMID:34169201|PMID:34631043|PMID:34714369|PMID:34973142|PMID:35295324|PMID:4117597 8719081 C3 complement C3 gene DOID:8354 complement component 3 deficiency susceptibility ISO RGD:735504 D RGD:7240710 20240308 OMIM 8719081 C3 complement C3 gene DOID:8466 retinal degeneration ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:21467172|REF_RGD_ID:7364947 8719081 C3 complement C3 gene DOID:8466 retinal degeneration ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:21571681|REF_RGD_ID:7401257 8719081 C3 complement C3 gene DOID:850 lung disease ISO RGD:10256 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:21421909|REF_RGD_ID:5129564 8719081 C3 complement C3 gene DOID:8566 herpes simplex ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:11509581|REF_RGD_ID:7401276 8719081 C3 complement C3 gene DOID:8577 ulcerative colitis ISO RGD:735504 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 8719081 C3 complement C3 gene DOID:874 bacterial pneumonia ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:16014897|REF_RGD_ID:5129508 8719081 C3 complement C3 gene DOID:9000326 Thrombotic Microangiopathies treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:11532096|REF_RGD_ID:5129554 8719081 C3 complement C3 gene DOID:9000363 Hematuria ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:renal arteriole: PMID:10955930|REF_RGD_ID:7183083 8719081 C3 complement C3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:26518242|REF_RGD_ID:11040780 8719081 C3 complement C3 gene DOID:9000656 Penetrating Wounds treatment ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:22007700|REF_RGD_ID:11040781 8719081 C3 complement C3 gene DOID:9000998 Brain Injuries ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23808389|REF_RGD_ID:10054313 8719081 C3 complement C3 gene DOID:9001488 Human Influenza ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:21408070|REF_RGD_ID:5129492 8719081 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:15972516|REF_RGD_ID:5129509 8719081 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:735504 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20405|REF_RGD_ID:5130163 8719081 C3 complement C3 gene DOID:9002106 Pneumococcal Pneumonia disease_progression ISO RGD:2232 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion PMID:17956621|REF_RGD_ID:5129523 8719081 C3 complement C3 gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:25122638|REF_RGD_ID:11040803 8719081 C3 complement C3 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:19854450|REF_RGD_ID:11040888 8719081 C3 complement C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10256 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:increased expression:kidney: PMID:19200691|REF_RGD_ID:7183082 8719081 C3 complement C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2232 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:25662584|REF_RGD_ID:11040807 8719081 C3 complement C3 gene DOID:9002211 Hyperalgesia ISO RGD:2232 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy;mRNA, protein:increased expression:spinal cord PMID:23588254|REF_RGD_ID:7401259 8719081 C3 complement C3 gene DOID:9002457 Experimental Arthritis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:20051658|REF_RGD_ID:7411688 8719081 C3 complement C3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:7347767|REF_RGD_ID:11041098 8719081 C3 complement C3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:17114852|REF_RGD_ID:5129540 8719081 C3 complement C3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:22320401|REF_RGD_ID:7175513 8719081 C3 complement C3 gene DOID:9002834 Herpesviridae Infections ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:12196286|REF_RGD_ID:5129514 8719081 C3 complement C3 gene DOID:9003565 Paratuberculosis ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 8719081 C3 complement C3 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:16947020|REF_RGD_ID:7401280 8719081 C3 complement C3 gene DOID:9004009 Reperfusion Injury ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17981193|REF_RGD_ID:5129536 8719081 C3 complement C3 gene DOID:9004484 Sepsis ISO RGD:10256 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:24154627|REF_RGD_ID:11040886 8719081 C3 complement C3 gene DOID:9004484 Sepsis ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:3339873|REF_RGD_ID:7411622 8719081 C3 complement C3 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:22763771|REF_RGD_ID:11040808 8719081 C3 complement C3 gene DOID:9005941 Rhinosinusitis ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19593977|REF_RGD_ID:4889484 8719081 C3 complement C3 gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:9741227|REF_RGD_ID:11041158 8719081 C3 complement C3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:19691975|REF_RGD_ID:7411689 8719081 C3 complement C3 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:16143328|REF_RGD_ID:7401262 8719081 C3 complement C3 gene DOID:9006646 Metabolic Syndrome ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:16488421|REF_RGD_ID:2314030 8719081 C3 complement C3 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8719081 C3 complement C3 gene DOID:9006928 Viral Bronchiolitis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:12235218|REF_RGD_ID:5129513 8719081 C3 complement C3 gene DOID:9006928 Viral Bronchiolitis resistance ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:19258923|REF_RGD_ID:4142862 8719081 C3 complement C3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8719081 C3 complement C3 gene DOID:9007692 Insulin Resistance ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18615583 8719081 C3 complement C3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2232 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:11560858|REF_RGD_ID:1582136 8719081 C3 complement C3 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve PMID:14577867|REF_RGD_ID:5129542 8719081 C3 complement C3 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:735504 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 8719081 C3 complement C3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:17962462|REF_RGD_ID:7401263 8719081 C3 complement C3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:147324|REF_RGD_ID:11040804 8719081 C3 complement C3 gene DOID:9008366 Meningococcal Infections severity ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:3491693|REF_RGD_ID:11041157 8719081 C3 complement C3 gene DOID:9008604 Radiation Pneumonitis ISO RGD:735504 D RGD:9068941 20200609 RGD Protein: increased expression: plasma PMID:20510197|REF_RGD_ID:5129484 8719081 C3 complement C3 gene DOID:9008821 Otitis Media with Effusion disease_progression ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:11037838|REF_RGD_ID:7401253 8719081 C3 complement C3 gene DOID:9065 leishmaniasis ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:15378355|REF_RGD_ID:7401274 8719081 C3 complement C3 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:735504 D RGD:9068941 20200609 RGD protein:increased processing PMID:7510492|REF_RGD_ID:11040772 8719081 C3 complement C3 gene DOID:9182 pemphigus ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:74171 8719081 C3 complement C3 gene DOID:9282 ocular hypertension ISO RGD:2232 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 8719081 C3 complement C3 gene DOID:9282 ocular hypertension ISO RGD:735504 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 8719081 C3 complement C3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20504758 8719081 C3 complement C3 gene DOID:9408 acute myocardial infarction ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:26476955|REF_RGD_ID:11552746 8719081 C3 complement C3 gene DOID:9498 pulmonary eosinophilia ISO RGD:10256 D RGD:9068941 20200609 RGD PMID:23549917|REF_RGD_ID:7401272 8719081 C3 complement C3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735504 D RGD:9068941 20200609 RGD PMID:3253105|REF_RGD_ID:2314031 8719081 C3 complement C3 gene DOID:9970 obesity treatment ISO RGD:2232 D RGD:9068941 20200609 RGD PMID:23118029|REF_RGD_ID:7411625 8719146 Map4 microtubule associated protein 4 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1343248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 8719146 Map4 microtubule associated protein 4 gene DOID:630 genetic disease ISO RGD:1343248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719146 Map4 microtubule associated protein 4 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8719146 Map4 microtubule associated protein 4 gene DOID:9004657 Weight Gain ISO RGD:1343248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8719190 Lacc1 laccase domain containing 1 gene DOID:1024 leprosy ISO RGD:1602651 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:25741868 8719190 Lacc1 laccase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719190 Lacc1 laccase domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602651 D RGD:7240710 20200318 OMIM 8719190 Lacc1 laccase domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: JUVENILE ARTHRITIS PMID:25147203|PMID:25220867|PMID:25741868|PMID:27881174|PMID:29717096|PMID:31811059 8719200 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:11054 urinary bladder cancer ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 8719200 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:1793 pancreatic cancer ISO RGD:734292 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 8719200 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:4450 renal cell carcinoma ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 8719200 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:630 genetic disease ISO RGD:734292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719200 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:684 hepatocellular carcinoma ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 8719200 Inpp4b inositol polyphosphate-4-phosphatase type II B gene DOID:9119 acute myeloid leukemia ISO RGD:734292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29415082 8719237 Paaf1 proteasomal ATPase associated factor 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602098 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8719237 Paaf1 proteasomal ATPase associated factor 1 gene DOID:1059 intellectual disability ISO RGD:1602098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8719237 Paaf1 proteasomal ATPase associated factor 1 gene DOID:630 genetic disease ISO RGD:1602098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719271 Ngef neuronal guanine nucleotide exchange factor gene DOID:0060476 Perlman syndrome ISO RGD:1319181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8719271 Ngef neuronal guanine nucleotide exchange factor gene DOID:0110991 Joubert syndrome 22 ISO RGD:1319181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8719271 Ngef neuronal guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1319181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0080000 muscular disease ISO RGD:1313830 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:25741868|PMID:31852522|PMID:33217308 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1313830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0081338 myofibrillar myopathy 11 ISO RGD:1313830 D RGD:7240710 20210303 OMIM 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0081338 myofibrillar myopathy 11 ISO RGD:1313830 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH ECCENTRIC CORES | ClinVar Annotator: match by term: Myofibrillar myopathy 11 PMID:25741868|PMID:31852522|PMID:33217308 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0110259 cataract 43 ISO RGD:1313830 D RGD:7240710 20180130 OMIM 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0110259 cataract 43 ISO RGD:1313830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 43 PMID:24549050|PMID:25741868 8719296 Unc45b unc-45 myosin chaperone B gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1313830 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 8719296 Unc45b unc-45 myosin chaperone B gene DOID:114 heart disease ISO RGD:1313830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 8719296 Unc45b unc-45 myosin chaperone B gene DOID:423 myopathy ISO RGD:1313830 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:31852522|PMID:33217308 8719296 Unc45b unc-45 myosin chaperone B gene DOID:630 genetic disease ISO RGD:1313830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12356907|PMID:17189627|PMID:17586488|PMID:19348700|PMID:19504455|PMID:19834024|PMID:19854944|PMID:24549050|PMID:25348405|PMID:28492532|PMID:2981587 8719296 Unc45b unc-45 myosin chaperone B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8719296 Unc45b unc-45 myosin chaperone B gene DOID:9005246 Paralysis ISO RGD:1313830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 8719296 Unc45b unc-45 myosin chaperone B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17189627 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0050886 Troyer syndrome ISO RGD:68527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Troyer syndrome PMID:24122788 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0080042 autosomal recessive spinocerebellar ataxia 18 ISO RGD:68527 D RGD:7240710 20180130 OMIM 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:0080042 autosomal recessive spinocerebellar ataxia 18 ISO RGD:68527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18 PMID:23611888|PMID:24078737|PMID:25741868|PMID:27980096|PMID:28492532 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:5419 schizophrenia ISO RGD:68527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:630 genetic disease ISO RGD:68527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10725919|PMID:15970596|PMID:28492532|PMID:9285588 8719343 Grid2 glutamate ionotropic receptor delta type subunit 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8719373 Tbx21 T-box transcription factor 21 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to PMID:15806396 8719373 Tbx21 T-box transcription factor 21 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1317938 D RGD:7240710 20240308 OMIM 8719373 Tbx21 T-box transcription factor 21 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance PMID:25741868 8719373 Tbx21 T-box transcription factor 21 gene DOID:12365 malaria ISO RGD:1317938 D RGD:9068941 20200807 RGD PMID:19338000|REF_RGD_ID:38455985 8719373 Tbx21 T-box transcription factor 21 gene DOID:2841 asthma ISO RGD:1317938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15806396 8719373 Tbx21 T-box transcription factor 21 gene DOID:2841 asthma ISO RGD:1317939 D RGD:9068941 20220825 MouseDO OMIM:600807 8719373 Tbx21 T-box transcription factor 21 gene DOID:630 genetic disease ISO RGD:1317938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719373 Tbx21 T-box transcription factor 21 gene DOID:783 end stage renal disease ISO RGD:1317938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26970513 8719373 Tbx21 T-box transcription factor 21 gene DOID:9000762 Immunodeficiency 88 ISO RGD:1317938 D RGD:7240710 20240308 OMIM 8719373 Tbx21 T-box transcription factor 21 gene DOID:9000762 Immunodeficiency 88 ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 88 PMID:25741868 8719373 Tbx21 T-box transcription factor 21 gene DOID:9004484 Sepsis severity ISO RGD:1317938 D RGD:9068941 20200806 RGD PMID:25403265|REF_RGD_ID:38455982 8719373 Tbx21 T-box transcription factor 21 gene DOID:9005372 Inflammation ISO RGD:1317938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 8719373 Tbx21 T-box transcription factor 21 gene DOID:9006961 Asthma and Nasal Polyps ISO RGD:1317938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma and nasal polyps PMID:15806396 8719387 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8719387 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060801 MEHMO syndrome ISO RGD:1346365 D RGD:7240710 20190315 OMIM 8719387 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:0060801 MEHMO syndrome ISO RGD:1346365 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MEHMO syndrome PMID:23063529|PMID:25741868|PMID:25741869|PMID:27333055|PMID:28055140 8719387 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:12849 autistic disorder ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8719387 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:630 genetic disease ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719387 Eif2s3 eukaryotic translation initiation factor 2 subunit gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8719403 Adtrp androgen dependent TFPI regulating protein gene DOID:3393 coronary artery disease ISO RGD:1313849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378986 8719403 Adtrp androgen dependent TFPI regulating protein gene DOID:630 genetic disease ISO RGD:1313849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0050753 cerebellar ataxia ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0050851 glomerulosclerosis ISO RGD:11305 D RGD:9068941 20200609 RGD PMID:19918242|REF_RGD_ID:12879501 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0060326 myelomeningocele ISO RGD:737272 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs710218, rs2229682 (human) PMID:23427181|REF_RGD_ID:12879498 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0060326 myelomeningocele ISO RGD:737272 D RGD:9068941 20200609 RGD DNA:deletion:intron:rs35565219 (human) PMID:21135204|REF_RGD_ID:11070819 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0080000 muscular disease ISO RGD:737272 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:25741868|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0090044 dystonia 9 ISO RGD:737272 D RGD:7240710 20240320 OMIM 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0090044 dystonia 9 ISO RGD:737272 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9 PMID:10980529|PMID:11076005|PMID:11477212|PMID:12325075|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:18451999|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21546317|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22622956|PMID:22704013|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23340081|PMID:23448551|PMID:24215330|PMID:25108116|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27351150|PMID:28018440|PMID:28102150|PMID:28116237|PMID:28492532|PMID:28961260|PMID:29655203|PMID:29961769|PMID:30588498|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31737037|PMID:34279792|PMID:35586607|PMID:9536098 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 ISO RGD:737272 D RGD:7240710 20240320 OMIM 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 ISO RGD:737272 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia PMID:10227690|PMID:10980529|PMID:11076005|PMID:11477212|PMID:11603379|PMID:12325075|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18606970|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20301603|PMID:20417043|PMID:20621801|PMID:21069159|PMID:21135204|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21832227|PMID:22011817|PMID:23106342|PMID:23280796|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24215330|PMID:24847886|PMID:24892788|PMID:25022942|PMID:25108116|PMID:25167861|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:27351150|PMID:28102150|PMID:28116237|PMID:28492532|PMID:28961260|PMID:28971506|PMID:29530121|PMID:30271476|PMID:30588498|PMID:30895386|PMID:31069529|PMID:31302675|PMID:31605543|PMID:31737037|PMID:34305802|PMID:35586607|PMID:9462754|PMID:9536098 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0111313 idiopathic generalized epilepsy 12 ISO RGD:737272 D RGD:7240710 20240320 OMIM 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:0111313 idiopathic generalized epilepsy 12 ISO RGD:737272 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 PMID:10980529|PMID:11477212|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:18414213|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21555602|PMID:21832227|PMID:22011817|PMID:22282645|PMID:23106342|PMID:23280796|PMID:23340081|PMID:23448551|PMID:24215330|PMID:25108116|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26467025|PMID:26537434|PMID:26598494|PMID:28102150|PMID:28116237|PMID:28492532|PMID:28556183|PMID:28717674|PMID:28961260|PMID:30588498|PMID:30895386|PMID:31069529|PMID:31737037|PMID:35586607|PMID:9536098 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:10487 Hirschsprung's disease ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:10975929|REF_RGD_ID:12879497 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18606970|PMID:19630075|PMID:20301603|PMID:25167861|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532|PMID:32581362 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:10980529|PMID:18606970|PMID:19630075|PMID:20129935|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25564316|PMID:25741868|PMID:26216499|PMID:26598494|PMID:28492532|PMID:32581362 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:10980529|PMID:16385454|PMID:18606970|PMID:19630075|PMID:20301500|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25741868|PMID:28492532|PMID:32581362 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1059 intellectual disability ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:10980529|PMID:18606970|PMID:19630075|PMID:20129935|PMID:20301603|PMID:21832227|PMID:25167861|PMID:25326635|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26216499|PMID:26598494|PMID:28492532|PMID:32581362 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:10591 pre-eclampsia ISO RGD:737272 D RGD:9068941 20221103 RGD mRNA:decreased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:10652 Alzheimer's disease ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:8179300|REF_RGD_ID:2313620 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:10763 hypertension ISO RGD:3704 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:12771048|REF_RGD_ID:12879474 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:10907 microcephaly ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:10980529|PMID:20129935|PMID:21832227|PMID:25326635|PMID:25741868|PMID:26193382|PMID:26216499|PMID:28492532|PMID:32581362 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1459 hypothyroidism ISO RGD:3704 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:16581179|REF_RGD_ID:12879481 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1790 malignant mesothelioma ISO RGD:737272 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1825 childhood absence epilepsy onset ISO RGD:737272 D RGD:9068941 20200609 RGD DNA:deletion, missense mutations, SNP:multiple PMID:26537434|REF_RGD_ID:11058811 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:1826 epilepsy ISO RGD:737272 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:10980529|PMID:16217704|PMID:18403583|PMID:19996082|PMID:20129935|PMID:21832227|PMID:22622956|PMID:23106342|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25326635|PMID:25741868|PMID:26193382|PMID:26216499|PMID:26982753|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:2154 nephroblastoma severity ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:22483234|REF_RGD_ID:12879482 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:255 hemangioma ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:10665907|REF_RGD_ID:12879499 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3704 D RGD:9068941 20200609 RGD PMID:9419067|REF_RGD_ID:12879855 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:423 myopathy ISO RGD:737272 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:4450 renal cell carcinoma ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7921415 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:543 dystonia ISO RGD:737272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:630 genetic disease ISO RGD:737272 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10980529|PMID:11477212|PMID:16217704|PMID:16949238|PMID:17052934|PMID:18414213|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:20830593|PMID:21069159|PMID:21135204|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22704013|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23340081|PMID:23448551|PMID:24847886|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26982753|PMID:27078104|PMID:27250207|PMID:28018440|PMID:28102150|PMID:28492532|PMID:30588498|PMID:31069529|PMID:31196579|PMID:31737037|PMID:9462754 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:6364 migraine ISO RGD:737272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:655 inherited metabolic disorder ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23452774 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8364915 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:83 cataract ISO RGD:70495 D RGD:9068941 20200609 RGD PMID:11222509|REF_RGD_ID:12801446 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:8398 osteoarthritis ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18973239 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:863 nervous system disease ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23452774 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly ISO RGD:737272 D RGD:7240710 20240320 OMIM 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly ISO RGD:737272 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects PMID:10980529|PMID:11477212|PMID:12325075|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:19630075|PMID:19798636|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21135204|PMID:21546317|PMID:21555602|PMID:21832227|PMID:22011817|PMID:23106342|PMID:23280796|PMID:23340081|PMID:23448551|PMID:24215330|PMID:25108116|PMID:25326635|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26467025|PMID:26537434|PMID:26598494|PMID:28102150|PMID:28116237|PMID:28492532|PMID:28961260|PMID:30588498|PMID:30895386|PMID:31069529|PMID:31737037|PMID:35586607|PMID:9536098 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:15745834|REF_RGD_ID:2312305 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:exon:g.20882C>T (human) PMID:26337659|REF_RGD_ID:12879466 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3704 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22707888|REF_RGD_ID:12879861 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3704 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:9886959|REF_RGD_ID:12879480 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3704 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:11738800|REF_RGD_ID:730192 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20138251 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9003760 Myalgia ISO RGD:737272 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Myalgia PMID:25741868|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3704 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:19781384|REF_RGD_ID:2313601 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9004866 Ataxia ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11603379 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:737272 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25741868 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9005532 Muscle Weakness ISO RGD:737272 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3704 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:17935675|REF_RGD_ID:2313617 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3704 D RGD:9068941 20200609 RGD PMID:8345816|REF_RGD_ID:12879858 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:11305 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26943884 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11953883 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:737272 D RGD:7240710 20240320 OMIM 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:737272 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Encephalopathy due to GLUT1 deficiency | ClinVar Annotator: match by term: GLUT1 deficiency syndrome | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive | ClinVar Annotator: match by term: Glucose transport defect, blood-brain barrier | ClinVar Annotator: match by term: Glucose transporter protein syndrome | ClinVar Annotator: match by term: Glucose transporter type 1 deficiency syndrome PMID:10227690|PMID:10980529|PMID:11076005|PMID:11477212|PMID:11603379|PMID:12325075|PMID:15622525|PMID:16172126|PMID:16199547|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18387950|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18577546|PMID:18606970|PMID:18614966|PMID:19237265|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20221955|PMID:20301603|PMID:20417043|PMID:20574033|PMID:20621801|PMID:20630673|PMID:20687207|PMID:20830593|PMID:21069159|PMID:21135204|PMID:21204808|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:21937992|PMID:22011817|PMID:22282645|PMID:22622956|PMID:22704013|PMID:22814174|PMID:22976442|PMID:23020937|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:23740044|PMID:23801573|PMID:24080273|PMID:24215330|PMID:24824604|PMID:24847886|PMID:24892788|PMID:25022942|PMID:25099510|PMID:25108116|PMID:25167861|PMID:25326635|PMID:25381171|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26216499|PMID:26267703|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27250207|PMID:27351150|PMID:27927575|PMID:28018440|PMID:28074849|PMID:28102150|PMID:28116237|PMID:28135719|PMID:28378819|PMID:28443597|PMID:28492532|PMID:28554332|PMID:28556183|PMID:28717674|PMID:28961260|PMID:28971506|PMID:29303961|PMID:29356177|PMID:29530121|PMID:29655203|PMID:29778030|PMID:29930392|PMID:29961769|PMID:30076047|PMID:30115503|PMID:30197081|PMID:30198221|PMID:30271476|PMID:30588498|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31273778|PMID:31302675|PMID:31487502|PMID:31737037|PMID:32802945|PMID:33015236|PMID:33258288|PMID:33860439|PMID:34279792|PMID:34305802|PMID:34568804|PMID:35586607|PMID:36362347|PMID:9335548|PMID:9536098 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3704 D RGD:9068941 20200609 RGD PMID:10336852|REF_RGD_ID:12879857 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10980529|PMID:11603379|PMID:9462754 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9008138 Ductal Carcinoma ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9008582 Developmental Disease ISO RGD:737272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:19630075|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:17554865|REF_RGD_ID:12879502 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197467 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9351 diabetes mellitus ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:10022440|REF_RGD_ID:12879500 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9589670 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:18613291|REF_RGD_ID:2312306 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737272 D RGD:9068941 20200609 RGD PMID:7516306|PMID:9789717|REF_RGD_ID:2312289|REF_RGD_ID:2312290 8719421 Slc2a1 solute carrier family 2 member 1 gene DOID:9970 obesity treatment ISO RGD:737272 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome PMID:24842895|REF_RGD_ID:12879503 8719444 Skida1 SKI/DACH domain containing 1 gene DOID:630 genetic disease ISO RGD:1606383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719450 Ly6g5b lymphocyte antigen 6 family member G5B gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1349012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8719450 Ly6g5b lymphocyte antigen 6 family member G5B gene DOID:11372 megacolon ISO RGD:1349012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8719450 Ly6g5b lymphocyte antigen 6 family member G5B gene DOID:630 genetic disease ISO RGD:1349012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719462 Lmna lamin A/C gene DOID:0014667 disease of metabolism ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Metabolic disease PMID:28492532|PMID:32012908 8719462 Lmna lamin A/C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25741868|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:29149195|PMID:29237675|PMID:30165862|PMID:30402260|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31447099|PMID:31829210|PMID:34363016|PMID:34808346|PMID:35526016 8719462 Lmna lamin A/C gene DOID:0050440 familial partial lipodystrophy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29078011|PMID:29149195|PMID:29237675|PMID:29253866|PMID:29255176|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771 8719462 Lmna lamin A/C gene DOID:0050440 familial partial lipodystrophy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy | ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules | ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11102973|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17469202|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18182166|PMID:18348272|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20709679|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26724531|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28166811|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30954027|PMID:31019283|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31847799|PMID:32004434|PMID:32155092|PMID:32160020|PMID:32456328|PMID:32571898|PMID:32954377|PMID:33673806|PMID:34008892|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16186497|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18182166|PMID:18348272|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20709679|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26602028|PMID:26620845|PMID:26662654|PMID:26670336|PMID:26724531|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034135|PMID:27034136|PMID:27066507|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28166811|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29893365|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31378009|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33673806|PMID:34008892|PMID:34213952|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034136|PMID:27066507|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29845577|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31498906|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32746448|PMID:32793522|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33258288|PMID:33673806|PMID:34008892|PMID:34213952|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24169522|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27034136|PMID:27066507|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29845577|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30078822|PMID:30107846|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31296869|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31498906|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32456328|PMID:32571898|PMID:32746448|PMID:32793522|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33258288|PMID:33673806|PMID:34008892|PMID:34213952|PMID:35535697|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15866440|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:1737707|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17967828|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23703017|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25001855|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25481314|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25832542|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26027246|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26220970|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26659599|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27034135|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27332903|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27461183|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28152038|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29104234|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29250285|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29791652|PMID:29845577|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30572990|PMID:30696354 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:30765282|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31069529|PMID:31194872|PMID:31263448|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31410651|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31791368|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32475984|PMID:32528171|PMID:32548202|PMID:32571898|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33250842|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35772917|PMID:36397776|PMID:4684700|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11792811|PMID:11799477|PMID:11897440|PMID:11901143|PMID:11973618|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12716787|PMID:12729796|PMID:12768443|PMID:12783988|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14510863|PMID:14569138|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15184648|PMID:15219508|PMID:15286156|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15832002|PMID:15843404|PMID:15866440|PMID:15919811|PMID:15961312|PMID:15965218|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16084085|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16478798|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16825282|PMID:16891232|PMID:16965317|PMID:16990647|PMID:17107595|PMID:17136397|PMID:17150192|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:1737707|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17556535|PMID:17576681|PMID:17599607|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17967828|PMID:17987279|PMID:18031308|PMID:18031519|PMID:18035086|PMID:18035816|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18480576|PMID:1849984|PMID:18502446|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19258295|PMID:19283854|PMID:19318026|PMID:19328042|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19875478|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20092787|PMID:20127487|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20472316|PMID:20497714|PMID:20498703|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20837309|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21179469|PMID:21251803|PMID:21315846|PMID:21346069|PMID:21400569|PMID:21462202|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21738662|PMID:21818408|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21922471|PMID:21945321|PMID:21970986|PMID:21980471|PMID:21989830|PMID:22068161|PMID:22071332|PMID:22090424|PMID:22103509|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2270059|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23029315|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23703017|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23912926|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24034385|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24169522|PMID:24237251|PMID:24305605|PMID:24349489|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24656463|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24861648|PMID:24915601|PMID:24943589|PMID:24990833|PMID:25001855|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:25256213|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25327215|PMID:25343322|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25481314|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25572245|PMID:25617006|PMID:25637381|PMID:25640679|PMID:25656816|PMID:25741868|PMID:25793944|PMID:25819867|PMID:25823658|PMID:25832542|PMID:25873806|PMID:25885670|PMID:25886484|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:25996830|PMID:26027246|PMID:26034236|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26199943|PMID:26220970|PMID:262236|PMID:26323789|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26567375|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26620845|PMID:26659599|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26900797|PMID:26976018|PMID:27000522|PMID:27034135|PMID:27066507|PMID:27100822|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27220833|PMID:27234031|PMID:27235420|PMID:27265359|PMID:2733290|PMID:27332903|PMID:27363342|PMID:27373676|PMID:27374873|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27461183|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27534416|PMID:27585670|PMID:27595935|PMID:27600705|PMID:27633507|PMID:27650965|PMID:27673727|PMID:27707468|PMID:27708273|PMID:27723096|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27938454|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28125586|PMID:28152038|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:28987496|PMID:29047356|PMID:29057633|PMID:29078011|PMID:29095976|PMID:29104234|PMID:29121657|PMID:29149195|PMID:29211919|PMID:29237675|PMID:29237690|PMID:29247119|PMID:29250285|PMID:29253866|PMID:29255176|PMID:29267953|PMID:29367541|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29770364|PMID:29773157|PMID:29791652|PMID:29845577|PMID:29892087|PMID:29893365 8719462 Lmna lamin A/C gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:29895224|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30055862|PMID:30078822|PMID:30083363|PMID:30107846|PMID:30122538|PMID:30123186|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30572990|PMID:30696354|PMID:30765282|PMID:30838351|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31038196|PMID:31042466|PMID:31069529|PMID:31194872|PMID:31263448|PMID:31264968|PMID:31270292|PMID:31293201|PMID:31296869|PMID:31303467|PMID:31317183|PMID:31322791|PMID:31378009|PMID:31383942|PMID:31410651|PMID:31428229|PMID:31434876|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31744510|PMID:31791368|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32413188|PMID:32455078|PMID:32456328|PMID:32458740|PMID:32475984|PMID:32528171|PMID:32548202|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32943904|PMID:32954377|PMID:33038109|PMID:33250842|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33552729|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33940562|PMID:33963534|PMID:34008892|PMID:34011823|PMID:34135346|PMID:34213952|PMID:34240052|PMID:34340952|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34638534|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35284542|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35470684|PMID:35526016|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:36136372|PMID:36178741|PMID:36267857|PMID:36293084|PMID:36397776|PMID:36548481|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37679847|PMID:4684700|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050557 congenital muscular dystrophy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:15770669|PMID:25741868|PMID:26467025|PMID:26900797|PMID:28492532|PMID:33293369 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:32004434|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32456328|PMID:32746448|PMID:32793522|PMID:32880476|PMID:33258288|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33422685|PMID:33458588|PMID:33673806|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21179469|PMID:21315846|PMID:21465660|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:30012837|PMID:30019023|PMID:30137533|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12702809|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27199538|PMID:27332903|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34240052|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35772917|PMID:36397776|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12702809|PMID:12716787|PMID:12768443|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:12938084|PMID:13129702|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15539782|PMID:15678000|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15919811|PMID:15965218|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16407522|PMID:16415042|PMID:16478798|PMID:16584978|PMID:16585054|PMID:16809772|PMID:16825282|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17576681|PMID:17612587|PMID:17711925|PMID:17760566|PMID:17848409|PMID:17893350|PMID:18035086|PMID:18035816|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19220582|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19768759|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20041886|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21179469|PMID:21315846|PMID:21400569|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21818408|PMID:21831885|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21970986|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22413764|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22549407|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23702046|PMID:23757202|PMID:23783098|PMID:23785128|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24169522|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24846508|PMID:24861648|PMID:24943589|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25469153|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25823658|PMID:25873806|PMID:25982065|PMID:25988045|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26573435|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26899768|PMID:26900797|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27199538|PMID:27234031|PMID:2733290|PMID:27332903|PMID:27447704|PMID:27498076|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841901|PMID:27841971|PMID:27845687|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28118183|PMID:28254188 8719462 Lmna lamin A/C gene DOID:0050700 cardiomyopathy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:28254189|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29095976|PMID:29121657|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29382405|PMID:29386531|PMID:29432544|PMID:29540472|PMID:29557732|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29907918|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30019023|PMID:30122538|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31038196|PMID:31042466|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31453089|PMID:31476771|PMID:31514951|PMID:31521807|PMID:31525256|PMID:31539150|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32041989|PMID:32160020|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32746448|PMID:32789579|PMID:32789750|PMID:32792077|PMID:32793522|PMID:32818388|PMID:32826072|PMID:32846814|PMID:32880476|PMID:33038109|PMID:33258288|PMID:33293369|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34135346|PMID:34240052|PMID:34340952|PMID:34360639|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34680903|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34975533|PMID:34999423|PMID:35026164|PMID:35284542|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:36136372|PMID:36178741|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37178278|PMID:37246508|PMID:37589201|PMID:37679847|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0050820 atrioventricular block ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10580070 8719462 Lmna lamin A/C gene DOID:0050820 atrioventricular block ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G613A (human) PMID:25469153|REF_RGD_ID:12791032 8719462 Lmna lamin A/C gene DOID:0060480 left ventricular noncompaction ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:19318026|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22464770|PMID:23183350|PMID:23853504|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25163546|PMID:25741868|PMID:26404900|PMID:27532257|PMID:27585670|PMID:27723096|PMID:28492532|PMID:28663758|PMID:29149195|PMID:29237675|PMID:29961767|PMID:29970176|PMID:30165862|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30919684|PMID:31303467|PMID:31383942|PMID:31476771|PMID:31744510|PMID:31829210|PMID:32041611|PMID:32193531|PMID:32826072|PMID:34495297|PMID:34720847|PMID:34808346|PMID:34862408|PMID:35026164|PMID:36397776 8719462 Lmna lamin A/C gene DOID:0060586 Noonan syndrome 8 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 8719462 Lmna lamin A/C gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:732790 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16584978|PMID:17107595|PMID:18478590|PMID:18808171|PMID:19524666|PMID:21400569|PMID:22761994|PMID:23861362|PMID:23977161|PMID:24033266|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25210889|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:31428229|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32793522|PMID:32880476|PMID:34240052 8719462 Lmna lamin A/C gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:732790 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16584978|PMID:17107595|PMID:18478590|PMID:18808171|PMID:19524666|PMID:21400569|PMID:22761994|PMID:23861362|PMID:23977161|PMID:24033266|PMID:24503780|PMID:24623722|PMID:24794538|PMID:25210889|PMID:25448463|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28531892|PMID:30420677|PMID:31428229|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32793522|PMID:32880476|PMID:34240052 8719462 Lmna lamin A/C gene DOID:0060762 restrictive dermopathy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome PMID:10080180|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14749366|PMID:15140538|PMID:15475483|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16440304|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18396274|PMID:18414213|PMID:18549403|PMID:18728124|PMID:18795223|PMID:19011997|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21846512|PMID:22326558|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23313286|PMID:23328570|PMID:2338570|PMID:23427149|PMID:23702046|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:25163546|PMID:25214167|PMID:25637381|PMID:25741868|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26752647|PMID:26900797|PMID:2733290|PMID:27332903|PMID:27498076|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29040816|PMID:29237675|PMID:29253866|PMID:29255176|PMID:29557732|PMID:29693488|PMID:29791652|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30165155|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30564623|PMID:30847666|PMID:30919684|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32616434|PMID:32685188|PMID:32727917|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33293369|PMID:33407844|PMID:33713793|PMID:33803191|PMID:33803652|PMID:34340952|PMID:34495297|PMID:34720847|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:36397776|PMID:37679847|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary liability to pressure palsies PMID:16288874 8719462 Lmna lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:7240710 20180912 OMIM 8719462 Lmna lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11792811|PMID:11799477|PMID:11897440|PMID:12015247|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12729796|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16636128|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17250699|PMID:17274801|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20041886|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21346069|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23062543|PMID:23183350|PMID:23243001|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:262236|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28082330|PMID:28087566|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29078011|PMID:29149195|PMID:29237675|PMID:29255176|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260 8719462 Lmna lamin A/C gene DOID:0070202 familial partial lipodystrophy type 2 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type | ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31293201|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32818388|PMID:32846814|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:11102973|PMID:11503164|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:15140538|PMID:15372542|PMID:15475483|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16584978|PMID:17107595|PMID:17334235|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18795223|PMID:18808171|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19638735|PMID:19680556|PMID:20848652|PMID:21400569|PMID:22326558|PMID:22761994|PMID:23183350|PMID:23328570|PMID:2338570|PMID:23702046|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24794538|PMID:25210889|PMID:25214167|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26183555|PMID:26220970|PMID:262236|PMID:26467025|PMID:26602028|PMID:26752647|PMID:2733290|PMID:27332903|PMID:27506821|PMID:2753225|PMID:27532257|PMID:27813223|PMID:27884249|PMID:27896052|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29237675|PMID:29255176|PMID:29693488|PMID:29952368|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30564623|PMID:30847666|PMID:31383942|PMID:31428229|PMID:31476771|PMID:31744510|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32698523|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:34240052|PMID:34935411|PMID:34999423|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:7240710 20180912 OMIM 8719462 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20240116 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B | ClinVar Annotator: match by term: SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:12032588|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17136397|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221 8719462 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20240116 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B | ClinVar Annotator: match by term: SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32727917|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34495297|PMID:34768595|PMID:34999423|PMID:35026164|PMID:35449878|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:12032588|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17136397|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29253866|PMID:29255176|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747 8719462 Lmna lamin A/C gene DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:30954027|PMID:31019283|PMID:31038196|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32727917|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33963534|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ISO RGD:732790 D RGD:7240710 20180523 OMIM 8719462 Lmna lamin A/C gene DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12647844|PMID:12669268|PMID:12920062|PMID:12927424|PMID:14510863|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15298354|PMID:15531479|PMID:15770669|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17334235|PMID:17524034|PMID:17711925|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20662858|PMID:20848652|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28082330|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29255176|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32571898|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33803652|PMID:33963534|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:4684700|PMID:9500556 8719462 Lmna lamin A/C gene DOID:0070370 restrictive dermopathy 2 ISO RGD:732790 D RGD:7240710 20230505 OMIM 8719462 Lmna lamin A/C gene DOID:0070370 restrictive dermopathy 2 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL | ClinVar Annotator: match by term: Restrictive dermopathy 2 PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11799477|PMID:11897440|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12669268|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12920062|PMID:14510863|PMID:14659775|PMID:14749366|PMID:15032975|PMID:15060110|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15531479|PMID:15770669|PMID:15793835|PMID:15982412|PMID:16126733|PMID:16181372|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16738054|PMID:17334235|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17711925|PMID:17987279|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18585512|PMID:18795223|PMID:18926329|PMID:19172989|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:19882644|PMID:20130076|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20580717|PMID:20625965|PMID:20848652|PMID:21251803|PMID:21479595|PMID:21520333|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22148005|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22893709|PMID:23141186|PMID:23183350|PMID:23299917|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24305605|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25649378|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26662654|PMID:26670336|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28082330|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878338|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29255176|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32571898|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:35026164|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:9500556 8719462 Lmna lamin A/C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12057196|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18714801|PMID:19589617|PMID:20627339|PMID:21535365|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31333075|PMID:31476771|PMID:31568572|PMID:32376792|PMID:33673806|PMID:34240052|PMID:8621584|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12057196|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18714801|PMID:19589617|PMID:20627339|PMID:21535365|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25274841|PMID:25525159|PMID:25741868|PMID:27182706|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31333075|PMID:31383942|PMID:31476771|PMID:31568572|PMID:32376792|PMID:33673806|PMID:34240052|PMID:34862408|PMID:8621584|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12057196|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18714801|PMID:19589617|PMID:20627339|PMID:21535365|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25274841|PMID:25525159|PMID:25741868|PMID:27182706|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31333075|PMID:31383942|PMID:31476771|PMID:31568572|PMID:32376792|PMID:33673806|PMID:34240052|PMID:34768595|PMID:34788595|PMID:34862408|PMID:8621584|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0080334 aortic valve disease 2 ISO RGD:732790 D RGD:9068941 20200609 RGD protein:decreased expression:aorta wall, nucleus (human) PMID:24560417|REF_RGD_ID:12791292 8719462 Lmna lamin A/C gene DOID:0081127 mandibuloacral dysplasia ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia PMID:10739764|PMID:11503164|PMID:12075506|PMID:12788894|PMID:14627682|PMID:16364671|PMID:17848409|PMID:18604166|PMID:19764019|PMID:25286833|PMID:25324471|PMID:25741868|PMID:25823658|PMID:28492532|PMID:32041611|PMID:32376792|PMID:33038109|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34680903 8719462 Lmna lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:7240710 20180130 OMIM 8719462 Lmna lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11897440|PMID:12075506|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12768443|PMID:12784312|PMID:12788894|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15286156|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:16809772|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17848409|PMID:17893350|PMID:17935239|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24861648|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27199538|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675|PMID:29253866|PMID:29255176|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30901896|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099 8719462 Lmna lamin A/C gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32456328|PMID:32475984|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:33038109|PMID:33258288|PMID:33407844|PMID:33422685|PMID:33458588|PMID:33502018|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34135346|PMID:34340952|PMID:34495297|PMID:34680903|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 8719462 Lmna lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:7240710 20180130 OMIM 8719462 Lmna lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16990647|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20848652|PMID:20980393|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29040816|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29253866|PMID:29255176|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31410651 8719462 Lmna lamin A/C gene DOID:0110156 Charcot-Marie-Tooth disease type 2B1 ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2B1 PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32792077|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11102973|PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:21465660|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:29237675|PMID:29952368|PMID:30402260|PMID:32818388|PMID:33407844|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11102973|PMID:12920062|PMID:15475483|PMID:15998779|PMID:17377071|PMID:17576681|PMID:18414213|PMID:18549403|PMID:18795223|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19638735|PMID:23861362|PMID:24001739|PMID:24033266|PMID:24721642|PMID:25741868|PMID:26467025|PMID:26602028|PMID:27896052|PMID:28492532|PMID:28679633|PMID:28785654|PMID:29237675|PMID:29952368|PMID:30402260|PMID:32818388|PMID:33407844|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:18585512|PMID:18926329|PMID:25741868|PMID:28492532|PMID:31263448 8719462 Lmna lamin A/C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10580070|PMID:16407522|PMID:16585054|PMID:18414213|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25525159|PMID:25741868|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31476771|PMID:33673806|PMID:34240052|PMID:8621584 8719462 Lmna lamin A/C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10580070|PMID:16407522|PMID:16585054|PMID:17576681|PMID:18414213|PMID:18478590|PMID:18714801|PMID:20627339|PMID:22071332|PMID:23142632|PMID:24033266|PMID:24503780|PMID:24846508|PMID:25274841|PMID:25525159|PMID:25741868|PMID:27182706|PMID:27532257|PMID:27760138|PMID:28492532|PMID:28518168|PMID:28663758|PMID:28679633|PMID:29095976|PMID:29237690|PMID:31019283|PMID:31383942|PMID:31476771|PMID:32376792|PMID:33673806|PMID:34240052|PMID:34768595|PMID:34788595|PMID:34862408|PMID:8621584|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:7240710 20180919 OMIM 8719462 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15972724|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27235420|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052 8719462 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29040816|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15219508|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15972724|PMID:15998779|PMID:16008174|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17136397|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19095983|PMID:19167105|PMID:19169477|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19446900|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23666920|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25327215|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26392352|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27199538 8719462 Lmna lamin A/C gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:27220833|PMID:27235420|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27760138|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28333919|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29040816|PMID:29047356|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30123186|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30696354|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31847799|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32548202|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32954377|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34011823|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35653365|PMID:35772917|PMID:36178741|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15998779|PMID:16061563|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17136397|PMID:17250669|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19167105|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20627339|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23062543|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25343322|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532 8719462 Lmna lamin A/C gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29382405|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30919684|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32160020|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35653365|PMID:35772917|PMID:36178741|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11897440|PMID:12376891|PMID:12467752|PMID:14597414|PMID:15372542|PMID:15843404|PMID:16584978|PMID:16715312|PMID:17107595|PMID:17377071|PMID:17612587|PMID:17711925|PMID:17987279|PMID:18182166|PMID:18478590|PMID:18585512|PMID:18808171|PMID:18926329|PMID:19318026|PMID:19524666|PMID:19875404|PMID:21400569|PMID:21840938|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22464770|PMID:22761994|PMID:23142632|PMID:23183350|PMID:23349452|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24058181|PMID:24503780|PMID:24623722|PMID:24794538|PMID:24846508|PMID:25210889|PMID:25448463|PMID:25469153|PMID:25741868|PMID:26383716|PMID:26467025|PMID:26899768|PMID:27026223|PMID:27373676|PMID:27421120|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27886618|PMID:28436080|PMID:28492532|PMID:28531892|PMID:28759816|PMID:28790152|PMID:28790155|PMID:28878402|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29382405|PMID:29943882|PMID:30007954|PMID:30165862|PMID:30178466|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:31264968|PMID:31303467|PMID:31428229|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31737537|PMID:31829210|PMID:31977013|PMID:31983221|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32376792|PMID:32698523|PMID:32793522|PMID:32880476|PMID:33673806|PMID:34240052|PMID:34363016|PMID:34808346|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35653365|PMID:36178741 8719462 Lmna lamin A/C gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:11897440|PMID:15219508|PMID:15539782|PMID:16061563|PMID:16537768|PMID:17334235|PMID:18795223|PMID:19589617|PMID:20307303|PMID:22199124|PMID:22918509|PMID:23183350|PMID:23349452|PMID:23701190|PMID:24033266|PMID:24386194|PMID:25741868|PMID:25988045|PMID:26199943|PMID:26332594|PMID:26899768|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32616434|PMID:32685188|PMID:33713793|PMID:33803191|PMID:35449878 8719462 Lmna lamin A/C gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:21465660|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26602028|PMID:28492532 8719462 Lmna lamin A/C gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 PMID:24033266|PMID:25741868|PMID:26467025|PMID:26602028|PMID:28492532 8719462 Lmna lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:7240710 20180130 OMIM 8719462 Lmna lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12768443|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15622532|PMID:15678000|PMID:15770669|PMID:15832002|PMID:15961312|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17136397|PMID:17250669|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17881656|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20576434|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21653823|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22090424|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22491857|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22918509|PMID:23062543|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24806962|PMID:24846508|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25326635|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27199538|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27600705|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27876398|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:28987496|PMID:29040816|PMID:29057633|PMID:29149195 8719462 Lmna lamin A/C gene DOID:0110640 congenital muscular dystrophy due to LMNA mutation ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:29237675|PMID:29253866|PMID:29255176|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32528171|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34008892|PMID:34340952|PMID:34495297|PMID:34638534|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant PMID:18585512|PMID:18926329|PMID:25741868|PMID:25886484|PMID:28152038|PMID:28492532 8719462 Lmna lamin A/C gene DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ISO RGD:732790 D RGD:7240710 20180130 OMIM 8719462 Lmna lamin A/C gene DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11015599|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11792809|PMID:11897440|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12647844|PMID:12669268|PMID:12716787|PMID:12920062|PMID:12927424|PMID:12927431|PMID:13129702|PMID:14510863|PMID:14607793|PMID:14659775|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15219508|PMID:15298354|PMID:15531479|PMID:15539782|PMID:15678000|PMID:15770669|PMID:15965218|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:17150192|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19283854|PMID:19318026|PMID:19401371|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19446900|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20662858|PMID:20848652|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22103509|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24080738|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:24943589|PMID:25025039|PMID:25163546|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25793944|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26662654|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27405450|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27633507|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28082330|PMID:28087566|PMID:28254189|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29255176|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31042466|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31521807|PMID:31539150|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32413188|PMID:32571898|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33803652|PMID:33963534|PMID:34011823|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:4684700|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:0111940 immunodeficiency 42 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8719462 Lmna lamin A/C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8719462 Lmna lamin A/C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17848409|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21520333|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23349452|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27723096|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29943882|PMID:30007954|PMID:30012837|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31744510|PMID:32456328|PMID:8621584 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17848409|PMID:18348272|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18926329|PMID:19220582|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21520333|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21980471|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27723096|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29943882|PMID:30007954|PMID:30012837|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31744510|PMID:32376792|PMID:32456328|PMID:32880476|PMID:8621584 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21465660|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34363016|PMID:34680903|PMID:34768595|PMID:8621584|PMID:9500556 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34363016|PMID:34680903|PMID:34768595|PMID:35526016|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31514951|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34975533|PMID:35526016|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11180602|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12057196|PMID:12075506|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12669268|PMID:12702809|PMID:12788894|PMID:12920062|PMID:14510863|PMID:14597414|PMID:14627682|PMID:14684700|PMID:14749366|PMID:14985400|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15843404|PMID:15965218|PMID:15998779|PMID:16084085|PMID:16181372|PMID:16364671|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16809772|PMID:17107595|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17848409|PMID:18348272|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18585512|PMID:18604166|PMID:18714801|PMID:18795223|PMID:18796515|PMID:18808171|PMID:18926329|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19764019|PMID:19842191|PMID:19859838|PMID:19875404|PMID:20130076|PMID:20160190|PMID:20497714|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:21400569|PMID:21479595|PMID:21535365|PMID:21831885|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22761994|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23427149|PMID:23702046|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24794538|PMID:24861648|PMID:25025039|PMID:25049529|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25367549|PMID:25371241|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27650965|PMID:27841901|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29078011|PMID:29237675|PMID:29438482|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30402260|PMID:30420677|PMID:30488537|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31447099|PMID:31514951|PMID:31521807|PMID:31744510|PMID:32041611|PMID:32376792|PMID:32413188|PMID:32456328|PMID:32698523|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33038109|PMID:33407844|PMID:33422685|PMID:33458588|PMID:34135346|PMID:34240052|PMID:34363016|PMID:34680903|PMID:34768595|PMID:34862408|PMID:34975533|PMID:35526016|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:10754 otitis media ISO RGD:732791 D RGD:9068941 20220825 MouseDO OMIM:166760 8719462 Lmna lamin A/C gene DOID:11612 polycystic ovary syndrome ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8719462 Lmna lamin A/C gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy 2 PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15060110|PMID:15140538|PMID:15298354|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16278265|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16809772|PMID:17250669|PMID:17250699|PMID:17325275|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551513|PMID:18585512|PMID:18606848|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21346069|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21883346|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:23062543|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25163546|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25367549|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25819867|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:262236|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896052|PMID:27896284|PMID:28082330|PMID:28087566|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28874324|PMID:28878402|PMID:29078011|PMID:29149195|PMID:29237675|PMID:29255176|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32727917 8719462 Lmna lamin A/C gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy 2 PMID:32746448|PMID:32792077|PMID:32818388|PMID:32880476|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35535697|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10814726|PMID:12032588|PMID:30055862 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10655060|PMID:10662742|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12628721|PMID:12629077|PMID:12649505|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15148145|PMID:15372542|PMID:15475483|PMID:15668447|PMID:15744034|PMID:15998779|PMID:16174718|PMID:16218190|PMID:16386954|PMID:16440304|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17576681|PMID:18035086|PMID:1839274|PMID:18396274|PMID:18414213|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18795223|PMID:18926329|PMID:19084400|PMID:19318026|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19882644|PMID:19933576|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20498703|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21535365|PMID:21632249|PMID:21840938|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22431096|PMID:22464770|PMID:2280636|PMID:22883396|PMID:22918509|PMID:23183350|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25214167|PMID:25326637|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26183555|PMID:26332594|PMID:26443318|PMID:26467025|PMID:26602028|PMID:26752647|PMID:27220833|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28785654|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29791652|PMID:30055862|PMID:30165862|PMID:30528549|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31383942|PMID:31829210|PMID:31857427|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32793522|PMID:34008892|PMID:8619549|PMID:9106535|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11136544|PMID:11138304|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11901143|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14597414|PMID:14615128|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15140538|PMID:15148145|PMID:15372542|PMID:15475483|PMID:15668447|PMID:15744034|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17576681|PMID:17893350|PMID:18035086|PMID:1839274|PMID:18396274|PMID:18414213|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19201734|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21535365|PMID:21632249|PMID:21840938|PMID:21846512|PMID:22224630|PMID:22266370|PMID:22326558|PMID:22431096|PMID:22464770|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23142632|PMID:23183350|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24033266|PMID:24055113|PMID:24237251|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25214167|PMID:25326637|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26443318|PMID:26467025|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26752647|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28785654|PMID:28790152|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29693488|PMID:29791652|PMID:29895224|PMID:30055862|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31980526|PMID:32041611|PMID:32376792|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32880476|PMID:34008892|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:11901143|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12748643|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15476822|PMID:15531479|PMID:15668447|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23077635|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24349489|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30083363|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32528171|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33250842|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34768595|PMID:34862408|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30083363|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32528171|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33250842|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34768595|PMID:34862408|PMID:34999423|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:11901143|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12748643|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15668447|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23077635|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24349489|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28074886|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29438482|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32571898|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33963534|PMID:34008892|PMID:34495297|PMID:34768595|PMID:34999423|PMID:35026164|PMID:35449878|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11897440|PMID:11901143|PMID:12015247|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12376891|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12748643|PMID:12784312|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15148145|PMID:15298354|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15668447|PMID:15744034|PMID:15770669|PMID:15843404|PMID:15998779|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16364671|PMID:16386954|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16584978|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16772334|PMID:17107595|PMID:17136397|PMID:17274801|PMID:17334235|PMID:17377071|PMID:17524034|PMID:17576681|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18808171|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20498703|PMID:20530761|PMID:20625965|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21315846|PMID:21400569|PMID:21479595|PMID:21520333|PMID:21535365|PMID:21632249|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22431096|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:22761994|PMID:22806367|PMID:22883396|PMID:22918509|PMID:23077635|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24349489|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24656463|PMID:24721642|PMID:24768879|PMID:24794538|PMID:24806962|PMID:24846508|PMID:24990833|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25948554|PMID:25982065|PMID:25987458|PMID:26027246|PMID:26084686|PMID:26098624|PMID:26165385|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26443318|PMID:26467025|PMID:26498160|PMID:26573435|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27100822|PMID:27153395|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27717888|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367 8719462 Lmna lamin A/C gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29040816|PMID:29057633|PMID:29149195|PMID:29237675|PMID:29253866|PMID:29255176|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31038196|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31428229|PMID:31434876|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32455078|PMID:32475984|PMID:32571898|PMID:32616434|PMID:32685188|PMID:32698523|PMID:32727917|PMID:32793522|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33963534|PMID:34008892|PMID:34240052|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:8619549|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23183350|PMID:23328570|PMID:2338570|PMID:24033266|PMID:24503780|PMID:24768879|PMID:25741868|PMID:26183555|PMID:26220970|PMID:26752647|PMID:2753225|PMID:27532257|PMID:27813223|PMID:28492532|PMID:28531892|PMID:28663758|PMID:28790152|PMID:29255176|PMID:29693488|PMID:30326651|PMID:30402260|PMID:30564623|PMID:31476771|PMID:31744510|PMID:32880476|PMID:34935411 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12075506|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14627682|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25324471|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:32004434|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32880476|PMID:32943904|PMID:33673806|PMID:34213952|PMID:8621584 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467|PMID:31383942 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:35535697|PMID:8621584 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17076270|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31303467|PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:34773379|PMID:35535697|PMID:8621584 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10612827|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10814726|PMID:10908904|PMID:10939567|PMID:11102526|PMID:11102973|PMID:11138304|PMID:11180602|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12196663|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16386954|PMID:16407522|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17536044|PMID:17599607|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18549403|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19318026|PMID:19328042|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19589617|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19875404|PMID:19882644|PMID:19933576|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21980471|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:2280636|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23299917|PMID:23349452|PMID:23360689|PMID:23362510|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23804595|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24024053|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26084686|PMID:26332594|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26602028|PMID:26670336|PMID:26899768|PMID:27000522|PMID:27153395|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27707468|PMID:27723096|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28663758|PMID:28679633|PMID:28701371|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29497013|PMID:29693488|PMID:29791652|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30165862|PMID:30287275|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31264968|PMID:31303467 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:31383942|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31857427|PMID:31977013|PMID:32004434|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32746448|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33673806|PMID:34213952|PMID:34773379|PMID:35535697|PMID:8621584 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21465660|PMID:21479595|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:2280636|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29693488|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33673806|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:1839274|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467734|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25326637|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35449878|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34999423|PMID:35526016|PMID:35535697|PMID:4740717|PMID:8621584|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35526016|PMID:35535697|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32666643|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:36397776|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27220833|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30420677|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34363016|PMID:34495297|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34862408|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10662742|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10814726|PMID:10868844|PMID:10908904|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102526|PMID:11102973|PMID:11136544|PMID:11138304|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11731280|PMID:11792809|PMID:11792810|PMID:11799477|PMID:11897440|PMID:12032588|PMID:12057196|PMID:12075506|PMID:12196663|PMID:12467752|PMID:12486434|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12649505|PMID:12669268|PMID:12673789|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12783988|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15053843|PMID:15060110|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15372542|PMID:15475483|PMID:15531479|PMID:15720451|PMID:15724423|PMID:15744034|PMID:15770669|PMID:15793835|PMID:15972724|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16156025|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16218190|PMID:16266469|PMID:16278265|PMID:16364671|PMID:16386954|PMID:16407522|PMID:16415042|PMID:16459536|PMID:16537768|PMID:16584978|PMID:16585054|PMID:16630578|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16772334|PMID:16809772|PMID:16965317|PMID:16990647|PMID:17136397|PMID:17250669|PMID:17250699|PMID:17334235|PMID:17377071|PMID:17386158|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17599607|PMID:17711925|PMID:17893350|PMID:17967828|PMID:17987279|PMID:18031519|PMID:18035086|PMID:18041775|PMID:18182166|PMID:18337098|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18538321|PMID:18549403|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18585512|PMID:18604166|PMID:18606848|PMID:18646565|PMID:18714801|PMID:18728124|PMID:18795223|PMID:18816602|PMID:18926329|PMID:19011997|PMID:19070492|PMID:19084400|PMID:19167105|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19328042|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19524666|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:19933576|PMID:2007407|PMID:20130076|PMID:20155465|PMID:20160190|PMID:20301717|PMID:20307303|PMID:20497714|PMID:20576434|PMID:20580717|PMID:20625965|PMID:20627339|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21085127|PMID:21151901|PMID:21173262|PMID:21251803|PMID:21315846|PMID:21479595|PMID:21483645|PMID:21520333|PMID:21632249|PMID:21689390|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22071332|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22337857|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22806367|PMID:22883396|PMID:22893709|PMID:22918509|PMID:23062543|PMID:23077635|PMID:23141186|PMID:23142632|PMID:23183350|PMID:23217256|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23360689|PMID:23362510|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23631840|PMID:23644458|PMID:23701190|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:23990565|PMID:24001739|PMID:24002959|PMID:24024053|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24237251|PMID:24305605|PMID:24375749|PMID:24386194|PMID:24503780|PMID:24623722|PMID:24642510|PMID:24721642|PMID:24768879|PMID:24846508|PMID:24915601|PMID:24990833|PMID:25025039|PMID:25163546|PMID:25210889|PMID:25214167|PMID:2526018|PMID:25274841|PMID:25286833|PMID:25319090|PMID:25324471|PMID:25343322|PMID:25351510|PMID:25448463|PMID:25469153|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25617006|PMID:25637381|PMID:25741868|PMID:25823658|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25948554|PMID:25982065|PMID:25987458|PMID:25988045|PMID:26027246|PMID:26084686|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26383716|PMID:26404900|PMID:26443318|PMID:26467025|PMID:26468400|PMID:26498160|PMID:26575312|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27111165|PMID:27153395|PMID:27182706|PMID:27220833|PMID:2733290|PMID:27332903|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27595935|PMID:27650965|PMID:27707468|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27886618|PMID:27896052|PMID:27896284|PMID:27919367|PMID:28069705|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28125586|PMID:28255936|PMID:28341588|PMID:28416588|PMID:28436080|PMID:28492532|PMID:28518168|PMID:28531892|PMID:28600387|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28759816|PMID:28785654|PMID:28790152|PMID:28790155|PMID:28798025|PMID:28807990|PMID:28874324|PMID:28878338|PMID:28878402|PMID:28912206|PMID:29057633|PMID:29095976|PMID:29149195|PMID:29237675|PMID:29237690|PMID:29253866|PMID:29255176|PMID:29367541|PMID:29382405|PMID:29432544|PMID:29438482|PMID:29497013|PMID:29557732|PMID:29620724|PMID:29676528|PMID:29693488|PMID:29753763|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29893365|PMID:29895224|PMID:29943882|PMID:29952368|PMID:29961767|PMID:29970176|PMID:30007954|PMID:30012837|PMID:30055862|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30177912|PMID:30178466|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30453078|PMID:30488537|PMID:30528549|PMID:30564623|PMID:30765282|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30919684|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31042466|PMID:31194872|PMID:31264968|PMID:31303467|PMID:31383942|PMID:31410651|PMID:31447099|PMID:31476771|PMID:31514951|PMID:31525256|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32004434|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32155092|PMID:32160020|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32458740|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32746448|PMID:32818388|PMID:32826072|PMID:32880476|PMID:32943904|PMID:33258288|PMID:33407844|PMID:33502018|PMID:33673806|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33916827|PMID:33963534|PMID:34213952|PMID:34240052|PMID:34340952|PMID:34363016|PMID:34495297|PMID:34621001|PMID:34720847|PMID:34768595|PMID:34773379|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35239206|PMID:35291351|PMID:35434999|PMID:35449878|PMID:35526016|PMID:35535697|PMID:35581137|PMID:35653365|PMID:35772917|PMID:36178741|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:4740717|PMID:8619549|PMID:8621584|PMID:9106535|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:12930 dilated cardiomyopathy severity ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:missense mutations, deletion:cds:multiple (human) PMID:12628721|REF_RGD_ID:1580515 8719462 Lmna lamin A/C gene DOID:13884 sick sinus syndrome ISO RGD:732790 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome PMID:25741868|PMID:27182706|PMID:29947763|PMID:31847799|PMID:34831398 8719462 Lmna lamin A/C gene DOID:1389 polyneuropathy ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy 8719462 Lmna lamin A/C gene DOID:1540 parathyroid carcinoma ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8719462 Lmna lamin A/C gene DOID:224 transient cerebral ischemia ISO RGD:620456 D RGD:9068941 20200609 RGD PMID:17683050|REF_RGD_ID:2293745 8719462 Lmna lamin A/C gene DOID:2349 arteriosclerosis ISO RGD:620456 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:16620292|REF_RGD_ID:2302364 8719462 Lmna lamin A/C gene DOID:2843 long QT syndrome ISO RGD:732790 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10580070|PMID:11102973|PMID:12920062|PMID:17334235|PMID:18414213|PMID:18795223|PMID:18926329|PMID:19318026|PMID:23701190|PMID:24386194|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29432544|PMID:29952368|PMID:32818388|PMID:33407844 8719462 Lmna lamin A/C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732790 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:28663758|PMID:31383942 8719462 Lmna lamin A/C gene DOID:3910 lung adenocarcinoma ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8719462 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:7240710 20180130 OMIM 8719462 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:10080180|PMID:10580070|PMID:10587585|PMID:10612827|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:11561226|PMID:11792809|PMID:11799477|PMID:11897440|PMID:11901143|PMID:12057196|PMID:12075506|PMID:12467734|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12629077|PMID:12647844|PMID:12669268|PMID:12702809|PMID:12714972|PMID:12768443|PMID:12920062|PMID:12927424|PMID:12927431|PMID:14510863|PMID:14597414|PMID:14607793|PMID:14615128|PMID:14627682|PMID:14659775|PMID:14675861|PMID:14684700|PMID:14749366|PMID:15032975|PMID:15060110|PMID:15121795|PMID:15140538|PMID:15184648|PMID:15298354|PMID:15317753|PMID:15342704|PMID:15475483|PMID:15531479|PMID:15770669|PMID:15793835|PMID:15982412|PMID:15998779|PMID:16061563|PMID:16126733|PMID:16174718|PMID:16181372|PMID:16199547|PMID:16364671|PMID:16415042|PMID:16440304|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:16738054|PMID:16965317|PMID:17274801|PMID:17334235|PMID:17347251|PMID:17377071|PMID:17459035|PMID:17459069|PMID:17469202|PMID:17511383|PMID:17524034|PMID:17536044|PMID:17576681|PMID:17711925|PMID:17760566|PMID:17893350|PMID:17987279|PMID:18035086|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:1849984|PMID:18549403|PMID:18551513|PMID:18564364|PMID:18585512|PMID:18606848|PMID:18646565|PMID:18728124|PMID:18795223|PMID:18796515|PMID:18926329|PMID:19011997|PMID:19084400|PMID:19172989|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19432833|PMID:19574635|PMID:19589617|PMID:19622949|PMID:19638735|PMID:19680556|PMID:19842191|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20301609|PMID:20301717|PMID:20307303|PMID:20376791|PMID:20497714|PMID:20580717|PMID:20625965|PMID:20662858|PMID:20848652|PMID:20980393|PMID:21173262|PMID:21251803|PMID:21479595|PMID:21520333|PMID:21738662|PMID:21831885|PMID:21840938|PMID:21846512|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22065502|PMID:22148005|PMID:22177269|PMID:22186027|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22331516|PMID:22355414|PMID:22419169|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22611635|PMID:22685055|PMID:22700598|PMID:22893709|PMID:22918509|PMID:23141186|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:2338570|PMID:23427149|PMID:23497705|PMID:23582089|PMID:23659872|PMID:23666920|PMID:23702046|PMID:23783098|PMID:23804595|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23969228|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24055113|PMID:24058181|PMID:24108105|PMID:24305605|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24639906|PMID:24642510|PMID:24687084|PMID:24721642|PMID:24768879|PMID:24846508|PMID:25025039|PMID:25214167|PMID:2526018|PMID:25286833|PMID:25326635|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25556323|PMID:25567453|PMID:25617006|PMID:25637381|PMID:25649378|PMID:25741868|PMID:25873806|PMID:25885670|PMID:25946677|PMID:25982065|PMID:26027246|PMID:26084686|PMID:26165385|PMID:26183555|PMID:26220970|PMID:262236|PMID:26332594|PMID:26383259|PMID:26392352|PMID:26467025|PMID:26498160|PMID:26602028|PMID:26662654|PMID:26670336|PMID:26688388|PMID:26724531|PMID:26733286|PMID:26752647|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:27199538|PMID:2733290|PMID:27332903|PMID:27334370|PMID:27374873|PMID:27421120|PMID:27447704|PMID:27498076|PMID:27504462|PMID:27506821|PMID:27529282|PMID:2753225|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27854218|PMID:27884249|PMID:27896052|PMID:27896284|PMID:27919367|PMID:27920058|PMID:28074886|PMID:28082330|PMID:28087566|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748 8719462 Lmna lamin A/C gene DOID:3911 progeria ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, atypical | ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:28701371|PMID:28751304|PMID:28785654|PMID:28790152|PMID:28807990|PMID:28878338|PMID:28878402|PMID:29040816|PMID:29149195|PMID:29237675|PMID:29253866|PMID:29255176|PMID:29438482|PMID:29557732|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29791652|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30137533|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30340945|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30564623|PMID:30847666|PMID:30871747|PMID:30911407|PMID:30954027|PMID:31006814|PMID:31019283|PMID:31038196|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31498906|PMID:31514951|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31857427|PMID:31977013|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32297714|PMID:32376792|PMID:32455078|PMID:32571898|PMID:32616434|PMID:32666643|PMID:32685188|PMID:32727917|PMID:32792077|PMID:32818388|PMID:32880476|PMID:32943904|PMID:33407844|PMID:33502018|PMID:33713793|PMID:33803191|PMID:33803652|PMID:33963534|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:34935411|PMID:34999423|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:9500556|PMID:9536098 8719462 Lmna lamin A/C gene DOID:440 neuromuscular disease ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorder PMID:15678000|PMID:16199547|PMID:17377071|PMID:18585512|PMID:18926329|PMID:19446900|PMID:24033266|PMID:24503780|PMID:24915601|PMID:25741868|PMID:27506821|PMID:28492532|PMID:28679633|PMID:28798025|PMID:28912206|PMID:29693488|PMID:31447099|PMID:31476771 8719462 Lmna lamin A/C gene DOID:5688 Werner syndrome ISO RGD:732790 D RGD:9068941 20200609 RGD atypical;DNA:missense mutations:cds:p.A57P, p.R133L, p.L140R (human) PMID:12927431|REF_RGD_ID:12791031 8719462 Lmna lamin A/C gene DOID:574 peripheral nervous system disease ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32616434|PMID:32685188|PMID:33713793|PMID:33803191|PMID:35449878 8719462 Lmna lamin A/C gene DOID:5812 MHC class II deficiency ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8719462 Lmna lamin A/C gene DOID:630 genetic disease ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10587585|PMID:10655060|PMID:10739751|PMID:10908904|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11503164|PMID:12524233|PMID:12669268|PMID:12920062|PMID:14510863|PMID:14749366|PMID:15060110|PMID:15531479|PMID:16181372|PMID:16218190|PMID:16459536|PMID:17524034|PMID:18396274|PMID:19169477|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19418082|PMID:19574635|PMID:19622949|PMID:19859838|PMID:20130076|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21945321|PMID:21989830|PMID:22276265|PMID:22700598|PMID:23427149|PMID:23783098|PMID:23846499|PMID:24002959|PMID:24033266|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:25524705|PMID:25741868|PMID:25885670|PMID:26027246|PMID:26662654|PMID:26724531|PMID:26756202|PMID:26976018|PMID:27504462|PMID:27532257|PMID:27841971|PMID:28492532|PMID:28641778|PMID:28751304|PMID:29438482|PMID:32012908|PMID:9500556 8719462 Lmna lamin A/C gene DOID:6713 cerebrovascular disease ISO RGD:732790 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:cds:1908C>T (human) PMID:16117820|REF_RGD_ID:2306095 8719462 Lmna lamin A/C gene DOID:811 lipodystrophy ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:12920062|PMID:15060110|PMID:19095983|PMID:19169477|PMID:19589617|PMID:22700598|PMID:22918509|PMID:23183350|PMID:23666920|PMID:24033266|PMID:25327215|PMID:25741868|PMID:26332594|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29047356|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30123186|PMID:30420677|PMID:30696354|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32548202|PMID:32616434|PMID:32685188|PMID:32954377|PMID:33713793|PMID:33803191|PMID:35449878 8719462 Lmna lamin A/C gene DOID:8472 localized scleroderma ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15726408 8719462 Lmna lamin A/C gene DOID:870 neuropathy ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:11799477|PMID:12467734|PMID:14607793|PMID:17347251|PMID:17377071|PMID:17536044|PMID:17711925|PMID:17760566|PMID:18549403|PMID:19589617|PMID:22331516|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30340945|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32616434|PMID:32685188|PMID:32792077|PMID:33713793|PMID:33803191|PMID:34862408|PMID:35449878 8719462 Lmna lamin A/C gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732791 D RGD:9068941 20200609 RGD PMID:18182166|REF_RGD_ID:2306092 8719462 Lmna lamin A/C gene DOID:9000067 Congenital Foot Deformities ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 8719462 Lmna lamin A/C gene DOID:9000488 Progeria Syndrome, Childhood-Onset ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford progeria syndrome, childhood-onset PMID:11015599|PMID:11503164|PMID:11792811|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:26724531|PMID:28492532|PMID:31293201 8719462 Lmna lamin A/C gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:10580070|REF_RGD_ID:11066902 8719462 Lmna lamin A/C gene DOID:9000808 Hypercholesterolemia ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypercholesterolaemia PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32616434|PMID:32685188|PMID:33713793|PMID:33803191|PMID:35449878 8719462 Lmna lamin A/C gene DOID:9001502 Congenital Microtia ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microtia PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32616434|PMID:32685188|PMID:33713793|PMID:33803191|PMID:35449878 8719462 Lmna lamin A/C gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IRAN, TYPE A PMID:15919811|PMID:16478798|PMID:20848652|PMID:23785128|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 8719462 Lmna lamin A/C gene DOID:9002165 Diabetic Nephropathies ISO RGD:732790 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:cds:1908C>T (human) PMID:16117820|REF_RGD_ID:2306095 8719462 Lmna lamin A/C gene DOID:9003163 Heart Block ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 8719462 Lmna lamin A/C gene DOID:9003205 Heart-Hand Syndrome, Slovenian Type ISO RGD:732790 D RGD:7240710 20180130 OMIM 8719462 Lmna lamin A/C gene DOID:9003205 Heart-Hand Syndrome, Slovenian Type ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11231979|PMID:11342468|PMID:11344241|PMID:11792809|PMID:11897440|PMID:12467752|PMID:12524233|PMID:12628721|PMID:12647844|PMID:12669268|PMID:12920062|PMID:12927424|PMID:14510863|PMID:14659775|PMID:14749366|PMID:15060110|PMID:15298354|PMID:15531479|PMID:15770669|PMID:15996213|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16459536|PMID:16585054|PMID:16671095|PMID:16715312|PMID:17334235|PMID:17524034|PMID:17711925|PMID:17893350|PMID:17987279|PMID:18182166|PMID:18396274|PMID:18414213|PMID:18478590|PMID:18551513|PMID:18585512|PMID:18611980|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19204888|PMID:19220582|PMID:19249234|PMID:19318026|PMID:19418082|PMID:19424285|PMID:19427440|PMID:19574635|PMID:19622949|PMID:19638735|PMID:19859838|PMID:19875404|PMID:19882644|PMID:2007407|PMID:20130076|PMID:20160190|PMID:20307303|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21479595|PMID:21520333|PMID:21831885|PMID:21840938|PMID:21875900|PMID:21945321|PMID:21980471|PMID:21989830|PMID:22177269|PMID:22199124|PMID:22224630|PMID:22266370|PMID:22276265|PMID:22326558|PMID:22355414|PMID:22464770|PMID:22526018|PMID:22570643|PMID:22700598|PMID:23183350|PMID:23299917|PMID:23313286|PMID:23328570|PMID:23349452|PMID:23427149|PMID:23582089|PMID:23702046|PMID:23783098|PMID:23846499|PMID:23853504|PMID:23861362|PMID:23977161|PMID:24001739|PMID:24002959|PMID:24033266|PMID:24058181|PMID:24108105|PMID:24375749|PMID:24503780|PMID:24623722|PMID:24846508|PMID:25025039|PMID:2526018|PMID:25448463|PMID:25524705|PMID:25525159|PMID:25617006|PMID:25637381|PMID:25741868|PMID:25873806|PMID:25885670|PMID:26027246|PMID:26084686|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26662654|PMID:26724531|PMID:26733286|PMID:26756202|PMID:26899768|PMID:26976018|PMID:27000522|PMID:27153395|PMID:2733290|PMID:27332903|PMID:27421120|PMID:27447704|PMID:27504462|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27650965|PMID:27723096|PMID:27813223|PMID:27841971|PMID:27884249|PMID:27896284|PMID:28082330|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28531892|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28688748|PMID:28701371|PMID:28751304|PMID:28790152|PMID:28807990|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29255176|PMID:29438482|PMID:29620724|PMID:29693488|PMID:29773157|PMID:29892087|PMID:29943882|PMID:29952368|PMID:30007954|PMID:30012837|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30326651|PMID:30402260|PMID:30418556|PMID:30420677|PMID:30429050|PMID:30528549|PMID:30847666|PMID:30871747|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31303467|PMID:31383942|PMID:31447099|PMID:31476771|PMID:31744510|PMID:31829210|PMID:31836692|PMID:31977013|PMID:31983221|PMID:32009526|PMID:32012908|PMID:32041611|PMID:32193531|PMID:32376792|PMID:32571898|PMID:32818388|PMID:32880476|PMID:33407844|PMID:33502018|PMID:33803652|PMID:33963534|PMID:34340952|PMID:34495297|PMID:34768595|PMID:34788595|PMID:34808346|PMID:34862408|PMID:34865644|PMID:35026164|PMID:35291351|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36397776|PMID:36646731|PMID:37246508|PMID:37679847|PMID:9500556 8719462 Lmna lamin A/C gene DOID:9003846 Sinoatrial Block ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 8719462 Lmna lamin A/C gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:732790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:23703017|PMID:25256213|PMID:25481314|PMID:28492532 8719462 Lmna lamin A/C gene DOID:9004795 Congenital Hand Deformities ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 8719462 Lmna lamin A/C gene DOID:9005141 Ventricular Tachycardia ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996213 8719462 Lmna lamin A/C gene DOID:9006138 Laminopathies ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Laminopathies | ClinVar Annotator: match by term: Laminopathy PMID:10587585|PMID:10655060|PMID:10739751|PMID:10739764|PMID:10810087|PMID:10868844|PMID:10939567|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11136544|PMID:11503164|PMID:11792809|PMID:12032588|PMID:12524233|PMID:12647844|PMID:12927424|PMID:14684700|PMID:16181372|PMID:16364671|PMID:16415042|PMID:17893350|PMID:18551513|PMID:18564364|PMID:18728124|PMID:19011997|PMID:19201734|PMID:19418082|PMID:19859838|PMID:2007407|PMID:20130076|PMID:20625965|PMID:20848652|PMID:20886652|PMID:21632249|PMID:22224630|PMID:22266370|PMID:22464770|PMID:22700598|PMID:23183350|PMID:23313286|PMID:23427149|PMID:23853504|PMID:24033266|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24656463|PMID:24806962|PMID:24846508|PMID:25637381|PMID:25741868|PMID:26098624|PMID:26662654|PMID:27506821|PMID:27532257|PMID:27585670|PMID:27723096|PMID:27884249|PMID:28492532|PMID:28641778|PMID:28679633|PMID:28878402|PMID:29149195|PMID:29237675|PMID:29893365|PMID:29943882|PMID:30007954|PMID:30165155|PMID:30165862|PMID:30287275|PMID:30528549|PMID:30847666|PMID:30871747|PMID:31194872|PMID:31303467|PMID:31447099|PMID:31829210|PMID:31836692|PMID:32041611|PMID:32155092|PMID:33673806|PMID:33803652|PMID:34340952|PMID:34808346|PMID:34865644|PMID:35291351|PMID:37679847 8719462 Lmna lamin A/C gene DOID:9006646 Metabolic Syndrome ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:SNP: :c.138747C>T (human) PMID:15205219|REF_RGD_ID:2306121 8719462 Lmna lamin A/C gene DOID:9007661 Dwarfism ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Short stature PMID:19589617|PMID:22918509|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26332594|PMID:27498076|PMID:27529282|PMID:27919367|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28663758|PMID:29253866|PMID:29557732|PMID:29791652|PMID:30420677|PMID:30847666|PMID:31383942|PMID:31857427|PMID:32041611|PMID:32616434|PMID:32685188|PMID:33713793|PMID:33803191|PMID:35449878 8719462 Lmna lamin A/C gene DOID:9007692 Insulin Resistance ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:15919811|PMID:16478798|PMID:20848652|PMID:23785128|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 8719462 Lmna lamin A/C gene DOID:9007820 Sudden Death ISO RGD:732790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:10814726|PMID:12628721|PMID:12673789|PMID:12920062|PMID:15053843|PMID:16386954|PMID:17136397|PMID:17377071|PMID:18035086|PMID:18414213|PMID:18564364|PMID:18646565|PMID:19524666|PMID:21632249|PMID:21840938|PMID:23142632|PMID:23183350|PMID:24503780|PMID:24990833|PMID:25741868|PMID:26443318|PMID:27220833|PMID:28492532|PMID:29693488|PMID:29895224|PMID:30055862|PMID:8619549|PMID:9106535 8719462 Lmna lamin A/C gene DOID:9007925 Sudden Cardiac Death ISO RGD:732790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death PMID:17711925|PMID:25741868|PMID:28492532 8719462 Lmna lamin A/C gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15726408 8719462 Lmna lamin A/C gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:732790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230615 8719462 Lmna lamin A/C gene DOID:9164 achalasia ISO RGD:732791 D RGD:9068941 20220825 MouseDO OMIM:200400 8719462 Lmna lamin A/C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8719462 Lmna lamin A/C gene DOID:9351 diabetes mellitus ISO RGD:732790 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10580070|PMID:10587585|PMID:10655060|PMID:10739751|PMID:10810087|PMID:10868844|PMID:10999791|PMID:10999845|PMID:11078466|PMID:11102973|PMID:11136544|PMID:11180602|PMID:11792809|PMID:12057196|PMID:12524233|PMID:12647844|PMID:12927424|PMID:15060110|PMID:15219508|PMID:15770669|PMID:16181372|PMID:16364671|PMID:16415042|PMID:16585054|PMID:17893350|PMID:18035086|PMID:18478590|PMID:18728124|PMID:18795223|PMID:18926329|PMID:19011997|PMID:19201734|PMID:19418082|PMID:19589617|PMID:19859838|PMID:19875404|PMID:2007407|PMID:20074070|PMID:20130076|PMID:20497714|PMID:20625965|PMID:20848652|PMID:21535365|PMID:21831885|PMID:21980471|PMID:22177269|PMID:22199124|PMID:22276265|PMID:22355414|PMID:22526018|PMID:22570643|PMID:2270059|PMID:22700598|PMID:23313286|PMID:23349452|PMID:23427149|PMID:23853504|PMID:23861362|PMID:24033266|PMID:24080738|PMID:24375749|PMID:24503780|PMID:24623722|PMID:25025039|PMID:25163546|PMID:2526018|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25873806|PMID:26467025|PMID:26498160|PMID:26662654|PMID:27000522|PMID:27153395|PMID:27447704|PMID:27532257|PMID:27896284|PMID:28087566|PMID:28492532|PMID:28620495|PMID:28641778|PMID:28663758|PMID:28679633|PMID:28686329|PMID:28701371|PMID:28807990|PMID:29237675|PMID:29952368|PMID:30165155|PMID:30287275|PMID:30420677|PMID:30954027|PMID:31019283|PMID:31194872|PMID:31383942|PMID:31447099|PMID:31744510|PMID:31836692|PMID:32041611|PMID:32818388|PMID:33407844|PMID:33803652|PMID:34340952|PMID:34865644|PMID:35291351|PMID:37679847 8719462 Lmna lamin A/C gene DOID:9352 type 2 diabetes mellitus ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17327437|REF_RGD_ID:1624985 8719462 Lmna lamin A/C gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732790 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17327461|REF_RGD_ID:1624984 8719462 Lmna lamin A/C gene DOID:9884 muscular dystrophy ISO RGD:732790 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10080180|PMID:10739764|PMID:10814726|PMID:10939567|PMID:11503164|PMID:11731280|PMID:11792809|PMID:11792810|PMID:12032588|PMID:12628721|PMID:12649505|PMID:12673789|PMID:12920062|PMID:14684700|PMID:14749366|PMID:15053843|PMID:15148145|PMID:15372542|PMID:15744034|PMID:16218190|PMID:16386954|PMID:17136397|PMID:17377071|PMID:17967828|PMID:18035086|PMID:18035816|PMID:18396274|PMID:18414213|PMID:18551513|PMID:18551515|PMID:18564364|PMID:18646565|PMID:19070492|PMID:19524666|PMID:20848652|PMID:20886652|PMID:20980393|PMID:21173262|PMID:21179469|PMID:21520333|PMID:21632249|PMID:21818408|PMID:21840938|PMID:21970986|PMID:22326558|PMID:22883396|PMID:23142632|PMID:23150259|PMID:23183350|PMID:23217256|PMID:23427149|PMID:23990565|PMID:24375749|PMID:24503780|PMID:24508248|PMID:24623722|PMID:24642510|PMID:24990833|PMID:25210889|PMID:25343322|PMID:25741868|PMID:25948554|PMID:25987458|PMID:26098624|PMID:26443318|PMID:26467025|PMID:26575312|PMID:27034135|PMID:27220833|PMID:27461183|PMID:27673727|PMID:27708273|PMID:27854218|PMID:27938454|PMID:28492532|PMID:29057633|PMID:29693488|PMID:29895224|PMID:29907918|PMID:30055862|PMID:32571898|PMID:34008892|PMID:34240052|PMID:34862408|PMID:8619549|PMID:9106535 8719505 Olfml2a olfactomedin like 2A gene DOID:0080600 COVID-19 ISO RGD:1323220 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8719505 Olfml2a olfactomedin like 2A gene DOID:630 genetic disease ISO RGD:1323220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719505 Olfml2a olfactomedin like 2A gene DOID:684 hepatocellular carcinoma ISO RGD:1323220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:0050753 cerebellar ataxia ISO RGD:12062566 D RGD:9068941 20230629 OMIA Ataxia, cerebellar, juvenile to adolescent, RAB24-related PMID:11043686|PMID:24516392|PMID:37341581|PMID:3973637|PMID:6502189|PMID:7341602|PMID:7440348 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1344346 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs1128287) C>A (human) PMID:27354594|REF_RGD_ID:152177496 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:14748 Sotos syndrome ISO RGD:1344346 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1344346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8719523 Rab24 RAB24, member RAS oncogene family gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1344346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8719535 Erich2 glutamate rich 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:6903373 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0060549 Barber-Say syndrome ISO RGD:735468 D RGD:7240710 20180130 OMIM 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0060549 Barber-Say syndrome ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Barber-Say syndrome PMID:16650233|PMID:1867254|PMID:19760652|PMID:20799330|PMID:20830793|PMID:25741868|PMID:26119818|PMID:27092433|PMID:28680619|PMID:8368246|PMID:9674915 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0060550 ablepharon macrostomia syndrome ISO RGD:735468 D RGD:7240710 20180130 OMIM 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0060550 ablepharon macrostomia syndrome ISO RGD:735468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ablepharon macrostomia syndrome PMID:11038439|PMID:11807864|PMID:15103726|PMID:2036354|PMID:21595001|PMID:25741868|PMID:26119818|PMID:8746822 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:735468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:1059 intellectual disability ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:735468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11038439|PMID:11807864|PMID:15103726|PMID:2036354|PMID:21595001|PMID:25741868|PMID:26119818|PMID:8746822 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:9000745 Focal Facial Dermal Dysplasia ISO RGD:735468 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:735468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:9003398 Focal Facial Dermal Dysplasia 3 ISO RGD:735468 D RGD:7240710 20180130 OMIM 8719548 Twist2 twist family bHLH transcription factor 2 gene DOID:9003398 Focal Facial Dermal Dysplasia 3 ISO RGD:735468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal facial dermal dysplasia 3, Setleis type PMID:14069095|PMID:20691403|PMID:21931173|PMID:8818454 8719554 LOC102024938 olfactory receptor 6Q1 gene DOID:1059 intellectual disability ISO RGD:1352757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8719554 LOC102024938 olfactory receptor 6Q1 gene DOID:630 genetic disease ISO RGD:1352757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719560 Tgfbrap1 transforming growth factor beta receptor associated protein 1 gene DOID:2843 long QT syndrome ISO RGD:1321869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8719560 Tgfbrap1 transforming growth factor beta receptor associated protein 1 gene DOID:630 genetic disease ISO RGD:1321869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719593 Sypl1 synaptophysin like 1 gene DOID:1059 intellectual disability ISO RGD:1346991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8719593 Sypl1 synaptophysin like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8719593 Sypl1 synaptophysin like 1 gene DOID:630 genetic disease ISO RGD:1346991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719603 Cdc7 cell division cycle 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1318070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8719603 Cdc7 cell division cycle 7 gene DOID:630 genetic disease ISO RGD:1318070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1606994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1606994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:2746 glycogen storage disease V ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1606994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606994 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8719625 Ap5b1 adaptor related protein complex 5 subunit beta 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050651 atrioventricular septal defect ISO RGD:1614795 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:31456290|PMID:33584783|PMID:34008892|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1352123 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:30679815|PMID:30718709|PMID:30902645|PMID:34008892|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050778 Meckel syndrome ISO RGD:1352123 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:18414213|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:30679815|PMID:30718709|PMID:30902645|PMID:34008892|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0050952 spastic ataxia ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:7240710 20180130 OMIM 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1352123 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:35587316|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110135 Bardet-Biedl syndrome 13 ISO RGD:1352123 D RGD:7240710 20180130 OMIM 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110135 Bardet-Biedl syndrome 13 ISO RGD:1352123 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:18414213|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:28981474|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:35587316|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1352123 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:17397051|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31191208|PMID:35587316|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17185389|PMID:17397051|PMID:19466712|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26490104|PMID:28492532|PMID:34008892 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352123 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:22406018|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:35360848|PMID:35587316|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110997 Joubert Syndrome 28 ISO RGD:1352123 D RGD:7240710 20190315 OMIM 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0110997 Joubert Syndrome 28 ISO RGD:1352123 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome 28 PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:30055837|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31964843|PMID:34008892|PMID:34011629|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1352123 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:19466712|PMID:23736532|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26490104|PMID:28492532|PMID:28497568|PMID:30679815|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1352123 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:1148 polydactyly ISO RGD:1352123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:18327255|PMID:20301500|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:28497568|PMID:34008892 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:18327255|PMID:25741868|PMID:28492532|PMID:31456290 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:574 peripheral nervous system disease ISO RGD:1352123 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:23602711|PMID:25741868|PMID:28492532 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:630 genetic disease ISO RGD:1352123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:28771248|PMID:34582790|PMID:9536098 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1614795 D RGD:9068941 20220825 MouseDO OMIM:187500 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:870 neuropathy ISO RGD:1352123 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:23602711|PMID:25741868|PMID:28492532 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1352123 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:18327255|PMID:25741868|PMID:28492532|PMID:28497568|PMID:34008892 8719631 Mks1 MKS transition zone complex subunit 1 gene DOID:9650 pathologic nystagmus ISO RGD:1352123 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:18327255|PMID:25741868|PMID:28492532|PMID:28497568|PMID:34008892 8719652 Fam114a2 family with sequence similarity 114 member A2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8719652 Fam114a2 family with sequence similarity 114 member A2 gene DOID:630 genetic disease ISO RGD:1313342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719652 Fam114a2 family with sequence similarity 114 member A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:3711 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane PMID:18988797|REF_RGD_ID:2307071 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:11716 prediabetes syndrome ISO RGD:3711 D RGD:9068941 20200609 RGD protein:increased expression:epididymis PMID:24105628|REF_RGD_ID:9999379 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18188457 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:14219 renal tubular acidosis ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:2843 long QT syndrome ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:630 genetic disease ISO RGD:733302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:899 choledochal cyst ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:9004633 Autosomal Recessive Osteopetrosis 9 ISO RGD:733302 D RGD:7240710 20230510 OMIM 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:9004633 Autosomal Recessive Osteopetrosis 9 ISO RGD:733302 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9 PMID:34668226 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:9007331 Alkalosis ISO RGD:3711 D RGD:9068941 20200609 RGD associated with Hypercalcemia;protein:decreased expression:kidney outer medulla inner stripe PMID:17367404|REF_RGD_ID:9999377 8719673 Slc4a2 solute carrier family 4 member 2 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:733302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 8719709 Clps colipase gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:731525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8719709 Clps colipase gene DOID:630 genetic disease ISO RGD:731525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719709 Clps colipase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2363 D RGD:9068941 20200609 RGD PMID:19577003|REF_RGD_ID:2314624 8719709 Clps colipase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731525 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R109C (human) PMID:16189801|REF_RGD_ID:2314627 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:0050581 brachydactyly ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:26168268|PMID:28492532|PMID:30755392|PMID:32901917|PMID:33106617 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:0060041 autism spectrum disorder ISO RGD:1345219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:0070066 autosomal dominant intellectual developmental disorder 36 ISO RGD:1345219 D RGD:7240710 20180130 OMIM 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:0070066 autosomal dominant intellectual developmental disorder 36 ISO RGD:1345219 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 36 | ClinVar Annotator: match by term: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | ClinVar Annotator: match by term: PPP2R1A-related condition | ClinVar Annotator: match by term: PPP2R1A-related disorder PMID:24728327|PMID:25533962|PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:29100083|PMID:30755392|PMID:31531803|PMID:31687265|PMID:32901917|PMID:33106617|PMID:34930662 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:1059 intellectual disability ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26619011|PMID:28492532|PMID:31687265 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:12347 osteogenesis imperfecta ISO RGD:1345219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lobstein disease PMID:25741868|PMID:25944380|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1345219 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265|PMID:33106617|PMID:34930662 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:363 uterine cancer ISO RGD:1345219 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25533962|PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265|PMID:33106617|PMID:34930662 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1345219 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265|PMID:33106617|PMID:34930662 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:3910 lung adenocarcinoma ISO RGD:1345219 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265|PMID:33106617|PMID:34930662 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1345219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1345219 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265|PMID:33106617|PMID:34930662 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1345219 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265|PMID:33106617|PMID:34930662 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:6171 uterine carcinosarcoma ISO RGD:1345219 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25533962|PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265|PMID:33106617|PMID:34930662 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:630 genetic disease ISO RGD:1345219 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:29100083|PMID:31531803|PMID:33106617 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:8398 osteoarthritis ISO RGD:1345219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:9000217 Stomach Neoplasms ISO RGD:1345219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:9000918 Disease Progression ISO RGD:1345219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345219 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265|PMID:33106617|PMID:34930662 8719720 Ppp2r1a protein phosphatase 2 scaffold subunit Aalpha gene DOID:9008939 Breast Neoplasms ISO RGD:1345219 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:25741868|PMID:26168268|PMID:26619011|PMID:28492532|PMID:31687265|PMID:33106617|PMID:34930662 8719744 Crip3 cysteine rich protein 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1343897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8719744 Crip3 cysteine rich protein 3 gene DOID:630 genetic disease ISO RGD:1343897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719744 Crip3 cysteine rich protein 3 gene DOID:905 Zellweger syndrome ISO RGD:1343897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8719766 Commd7 COMM domain containing 7 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1317181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 8719766 Commd7 COMM domain containing 7 gene DOID:630 genetic disease ISO RGD:1317181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110130 Bardet-Biedl syndrome 8 ISO RGD:1317152 D RGD:7240710 20180130 OMIM 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110130 Bardet-Biedl syndrome 8 ISO RGD:1317152 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 | ClinVar Annotator: match by term: TTC8-related condition PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25326637|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32962042|PMID:33138063|PMID:33532864|PMID:33964006|PMID:9536098 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1317152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110398 retinitis pigmentosa 51 ISO RGD:1317152 D RGD:7240710 20180130 OMIM 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:0110398 retinitis pigmentosa 51 ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 51 PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:20451172|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:25776555|PMID:25999674|PMID:26195043|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32962042|PMID:33138063|PMID:33964006|PMID:9536098 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30718709 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:16308660|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:1059 intellectual disability ISO RGD:1317152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:16308660|PMID:17576681|PMID:20177705|PMID:21044901|PMID:24033266|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317152 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25326637|PMID:25741868|PMID:25999674|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:31736247|PMID:31852928|PMID:32962042|PMID:33138063|PMID:33587123|PMID:33964006|PMID:9536098 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:1935 Bardet-Biedl syndrome susceptibility ISO RGD:1317152 D RGD:9068941 20200609 RGD DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC PMID:14520415|REF_RGD_ID:1624198 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:4448 macular degeneration ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:630 genetic disease ISO RGD:1317152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:8466 retinal degeneration ISO RGD:12071899 D RGD:9068941 20231207 OMIA Retinal atrophy, progressive, TTC8-related PMID:22065099|PMID:26401321|PMID:26427412|PMID:32962042|PMID:36325094|PMID:37582787|PMID:38028226 8719786 Ttc8 tetratricopeptide repeat domain 8 gene DOID:8501 fundus dystrophy ISO RGD:1317152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16308660|PMID:17576681|PMID:20177705|PMID:21044901|PMID:24033266|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1602444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1602444 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1602444 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0081115 benign familial infantile seizures 2 ISO RGD:1602444 D RGD:7240710 20180130 OMIM 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0081115 benign familial infantile seizures 2 ISO RGD:1602444 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 PMID:11179027|PMID:11346027|PMID:12953268|PMID:18414213|PMID:2131349|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22623405|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22895590|PMID:22902309|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23496026|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24828792|PMID:24886244|PMID:24928127|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26935445|PMID:26936445|PMID:27172900|PMID:27624551|PMID:28074849|PMID:28492532|PMID:28906077|PMID:29167286|PMID:29215089|PMID:29334453|PMID:30198221|PMID:30386286|PMID:30392205|PMID:30980674|PMID:31124310|PMID:31130284|PMID:31722684|PMID:32346475|PMID:32392383|PMID:33661484|PMID:34298454|PMID:34298581|PMID:34782754|PMID:9579893 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial paroxysmal choreoathetosis PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:33661484|PMID:34782754 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:7240710 20180130 OMIM 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1602444 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 1 | ClinVar Annotator: match by term: Familial Paroxysmal Kinesigenic Dyskinesia | ClinVar Annotator: match by term: Familial paroxysmal dystonia | ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:11179027|PMID:11346027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19914906|PMID:20301633|PMID:2131349|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22895590|PMID:22902309|PMID:23063574|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23436308|PMID:23456995|PMID:23496026|PMID:23529024|PMID:23551744|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24101679|PMID:24370076|PMID:24372385|PMID:24465263|PMID:24594579|PMID:24609974|PMID:24755245|PMID:24811917|PMID:24828792|PMID:24886244|PMID:25167861|PMID:25421402|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:25915028|PMID:26446061|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26629640|PMID:26742926|PMID:26867511|PMID:26935445|PMID:26936445|PMID:26944167|PMID:27123484|PMID:27172900|PMID:27173777|PMID:27624551|PMID:28074849|PMID:28492532|PMID:28525812|PMID:28906077|PMID:29132464|PMID:29167286|PMID:29215089|PMID:29334453|PMID:29655203|PMID:29801903|PMID:30198221|PMID:30386286|PMID:30392205|PMID:30980674|PMID:31124310|PMID:31130284|PMID:31154286|PMID:31302675|PMID:31589614|PMID:31722684|PMID:31801583|PMID:31901402|PMID:32346475|PMID:32392383|PMID:32651081|PMID:32906206|PMID:33126486|PMID:33550051|PMID:33661484|PMID:34041212|PMID:34298454|PMID:34298581|PMID:34782754|PMID:34825340|PMID:35083789|PMID:9536098 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1602444 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1602444 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, profound PMID:25741868 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:12849 autistic disorder ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:1826 epilepsy ISO RGD:1602444 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:34782754 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:1826 epilepsy ISO RGD:1602444 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11179027|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23299620|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24828792|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:28074849|PMID:28492532|PMID:29334453|PMID:31124310|PMID:33661484|PMID:34782754 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602444 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:25741868|PMID:28492532|PMID:28590052 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:5419 schizophrenia ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1602444 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11179027|PMID:11346027|PMID:18414213|PMID:20301633|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22623405|PMID:22744660|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:23063574|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23363396|PMID:23436308|PMID:23496026|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24594579|PMID:24755245|PMID:24828792|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:27123484|PMID:27172900|PMID:28074849|PMID:28492532|PMID:28525812|PMID:28906077|PMID:29215089|PMID:29334453|PMID:31124310|PMID:31193310|PMID:31722684|PMID:33661484|PMID:34782754 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1602444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 D RGD:7240710 20180130 OMIM 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:1602444 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial | ClinVar Annotator: match by term: PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS PMID:11179027|PMID:11346027|PMID:16199547|PMID:18414213|PMID:20301633|PMID:22101681|PMID:22120146|PMID:22131361|PMID:22209761|PMID:22243967|PMID:22399141|PMID:22464846|PMID:22623405|PMID:22744660|PMID:22752065|PMID:22782515|PMID:22832103|PMID:22845787|PMID:22870186|PMID:22875091|PMID:22877996|PMID:22902309|PMID:23077016|PMID:23077017|PMID:23077024|PMID:23077026|PMID:23126439|PMID:23180180|PMID:23182655|PMID:23190448|PMID:23299620|PMID:23352743|PMID:23363396|PMID:23529024|PMID:23566103|PMID:23768507|PMID:23771590|PMID:24074546|PMID:24370076|PMID:24465263|PMID:24594579|PMID:24755245|PMID:24828792|PMID:25167861|PMID:25449067|PMID:25457817|PMID:25502464|PMID:25522171|PMID:25667652|PMID:25741868|PMID:26467025|PMID:26561923|PMID:26598493|PMID:26598494|PMID:26935445|PMID:26936445|PMID:27172900|PMID:27173777|PMID:28074849|PMID:28492532|PMID:28906077|PMID:29132464|PMID:29215089|PMID:29334453|PMID:30980674|PMID:31124310|PMID:31722684|PMID:33126486|PMID:33661484|PMID:34782754 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9007956 Febrile Seizures ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex febrile seizures PMID:28492532 8719809 Prrt2 proline rich transmembrane protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1602444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8719858 Vil1 villin 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8719858 Vil1 villin 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8719858 Vil1 villin 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8719858 Vil1 villin 1 gene DOID:13580 cholestasis ISO RGD:1316011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8719858 Vil1 villin 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8719858 Vil1 villin 1 gene DOID:630 genetic disease ISO RGD:1316011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719858 Vil1 villin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8719892 Tll1 tolloid like 1 gene DOID:0110111 atrial heart septal defect 6 ISO RGD:1314549 D RGD:7240710 20180130 OMIM 8719892 Tll1 tolloid like 1 gene DOID:0110111 atrial heart septal defect 6 ISO RGD:1314549 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 6 | ClinVar Annotator: match by term: TLL1-related condition PMID:10331975|PMID:18830233|PMID:25741868|PMID:31570783 8719892 Tll1 tolloid like 1 gene DOID:1681 heart septal defect ISO RGD:1550401 D RGD:9068941 20230202 RGD PMID:10331975|REF_RGD_ID:155882595 8719892 Tll1 tolloid like 1 gene DOID:1682 congenital heart disease ISO RGD:1314549 D RGD:9068941 20230202 RGD DNA:insertion:exon:exon 10 (human) PMID:22883091|REF_RGD_ID:155882571 8719892 Tll1 tolloid like 1 gene DOID:3393 coronary artery disease severity ISO RGD:1314549 D RGD:9068941 20230202 RGD associated with type 2 diabetes:DNA:SNP:CDS:rs1503298 (human) PMID:21911782|REF_RGD_ID:155883159 8719892 Tll1 tolloid like 1 gene DOID:630 genetic disease ISO RGD:1314549 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:0080820 occupational asthma ISO RGD:1315371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:2661 myoepithelioma ISO RGD:1315371 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1315371 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:9001920 Isolated Microphthalmia with Coloboma 9 ISO RGD:1315371 D RGD:7240710 20180130 OMIM 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:9001920 Isolated Microphthalmia with Coloboma 9 ISO RGD:1315371 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9 PMID:22766609|PMID:25741868|PMID:27103084|PMID:28492532|PMID:29753094|PMID:30513139|PMID:32799327|PMID:33456446 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1315371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8719927 Tenm3 teneurin transmembrane protein 3 gene DOID:9975 cocaine dependence susceptibility ISO RGD:1315371 D RGD:9068941 20231102 RGD DNA:SNP:: (rs1514483) (human) PMID:18438686|REF_RGD_ID:401851917 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:0050632 oculocutaneous albinism ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:16199547|PMID:23985994|PMID:24033266|PMID:26686029|PMID:28492532 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:0050633 ocular albinism 1 ISO RGD:1553523 D RGD:9068941 20220825 MouseDO OMIM:300500 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1321543 D RGD:7240710 20180130 OMIM 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1321543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI PMID:23364476|PMID:23985994|PMID:25741868|PMID:26491832|PMID:26686029|PMID:28492532|PMID:31077556 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:14323 Marfan syndrome ISO RGD:1321543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:2717 Bloom syndrome ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:630 genetic disease ISO RGD:1321543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23985994|PMID:26686029|PMID:28492532 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:9001735 Skin/Hair/Eye Pigmentation, Variation In, 4 ISO RGD:1321543 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 PMID:16357253|PMID:17999355|PMID:23010199|PMID:25741868|PMID:29025994 8719963 Slc24a5 solute carrier family 24 member 5 gene DOID:9256 colorectal cancer ISO RGD:1321543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8719979 Srp14 signal recognition particle 14 gene DOID:2717 Bloom syndrome ISO RGD:1318313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8719979 Srp14 signal recognition particle 14 gene DOID:630 genetic disease ISO RGD:1318313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8719979 Srp14 signal recognition particle 14 gene DOID:9256 colorectal cancer ISO RGD:1318313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8719989 Ganab glucosidase II alpha subunit gene DOID:0050770 polycystic liver disease ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532|PMID:33097077 8719989 Ganab glucosidase II alpha subunit gene DOID:0080322 polycystic kidney disease ISO RGD:1320293 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:27259053|REF_RGD_ID:11352639 8719989 Ganab glucosidase II alpha subunit gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 8719989 Ganab glucosidase II alpha subunit gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1320293 D RGD:7240710 20190315 OMIM 8719989 Ganab glucosidase II alpha subunit gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1320293 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease PMID:25741868|PMID:27259053|PMID:28492532|PMID:33097077|PMID:33437033 8719989 Ganab glucosidase II alpha subunit gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8719989 Ganab glucosidase II alpha subunit gene DOID:1059 intellectual disability ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8719989 Ganab glucosidase II alpha subunit gene DOID:630 genetic disease ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8719989 Ganab glucosidase II alpha subunit gene DOID:784 chronic kidney disease ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 8719989 Ganab glucosidase II alpha subunit gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1320293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 8719989 Ganab glucosidase II alpha subunit gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease PMID:25741868|PMID:28492532|PMID:33097077 8719989 Ganab glucosidase II alpha subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1320293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:0050834 CHARGE syndrome ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:29300383 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:4621 holoprosencephaly ISO RGD:731253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:630 genetic disease ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES ISO RGD:731253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities PMID:25741868 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9002170 Experimental Neoplasms ISO RGD:731253 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21435101 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9003566 Mesothelioma ISO RGD:731253 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21435101 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9003952 Verheij Syndrome ISO RGD:731253 D RGD:7240710 20180130 OMIM 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9003952 Verheij Syndrome ISO RGD:731253 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Verheij syndrome PMID:18414213|PMID:24140112|PMID:25741868|PMID:27804958|PMID:28074499|PMID:28327570|PMID:28471317|PMID:28492532|PMID:29300383|PMID:30352594 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:731253 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:25741868|PMID:29300383 8720025 Puf60 poly(U) binding splicing factor 60 gene DOID:9005749 Necrosis ISO RGD:731253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21435101 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733281 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:630 genetic disease ISO RGD:733281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:733281 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis | ClinVar Annotator: match by term: SLC22A4-related condition PMID:14608356|PMID:25741868|PMID:28492532 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:733281 D RGD:7240710 20190329 OMIM 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:820 myocarditis ISO RGD:733281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:9000220 Coxsackievirus Infections ISO RGD:733281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:9004538 Hearing Loss ISO RGD:733281 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:27023905|PMID:28492532|PMID:33643381|PMID:34194829 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:9006549 Enterovirus Infections ISO RGD:733281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8720045 Slc22a4 solute carrier family 22 member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733281 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8720060 LOC102015215 olfactory receptor 7C2 gene DOID:630 genetic disease ISO RGD:1344773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1319732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1319732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:1059 intellectual disability ISO RGD:1319732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:630 genetic disease ISO RGD:1319732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720063 Gpr35 G protein-coupled receptor 35 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1319732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1314945 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Regional enteritis PMID:11385576|PMID:11385577|PMID:11425413|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12650796|PMID:12673278|PMID:12704363|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15571588|PMID:16010583|PMID:16416181|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome ISO RGD:1314945 D RGD:7240710 20180130 OMIM 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome ISO RGD:1314945 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14522785|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15086578|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15554080|PMID:15571588|PMID:15620648|PMID:15712650|PMID:15770725|PMID:15812565|PMID:15967635|PMID:15998797|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17157607|PMID:17207093|PMID:17301648|PMID:17393391|PMID:17489054|PMID:17576681|PMID:17941079|PMID:17968944|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18718560|PMID:18942754|PMID:18955195|PMID:19103559|PMID:19116920|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19479836|PMID:19479837|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20039400|PMID:20047977|PMID:20084402|PMID:20199415|PMID:20230816|PMID:20332463|PMID:20565245|PMID:20713205|PMID:20959815|PMID:21097508|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21596301|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22377804|PMID:22440928|PMID:22509093|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24595243|PMID:24597572|PMID:24713464|PMID:24803813|PMID:24876985|PMID:25093298|PMID:25136265|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25429073|PMID:25619344|PMID:25741868|PMID:25829188|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26606664|PMID:26768519|PMID:26774591|PMID:27306066|PMID:27339507|PMID:27373512|PMID:27419275|PMID:27625029|PMID:28008999|PMID:28130683|PMID:28166811|PMID:28422189|PMID:28492532|PMID:28639104|PMID:28658209|PMID:28750667|PMID:28814775|PMID:28836875|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29697845|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:30574935|PMID:30693132|PMID:30783801|PMID:31681265|PMID:32346654|PMID:32463623|PMID:32597225|PMID:32647028|PMID:32707200|PMID:32716958|PMID:33692434|PMID:34251956|PMID:34573280|PMID:7825454|PMID:9124059|PMID:9536098 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E383G (human) PMID:19116920|REF_RGD_ID:8158051 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E383K (human) PMID:15812565|REF_RGD_ID:8547515 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human) PMID:11528384|REF_RGD_ID:8158040 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050678 Blau syndrome susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human) PMID:19479837|REF_RGD_ID:8547518 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1314945 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs3135499) C>A (human) PMID:27354594|REF_RGD_ID:152177496 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) PMID:20230816|REF_RGD_ID:5508759 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0060180 colitis ISO RGD:1306368 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:16891783|REF_RGD_ID:1600781 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0060180 colitis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20921147|PMID:21471573|REF_RGD_ID:5508727|REF_RGD_ID:5508755 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :SNP8(human) PMID:23691182|REF_RGD_ID:7800668 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0081267 graft-versus-host disease severity ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snps, insertion:exons:p.R675W, p.G1881R, c.2936_2937insC (human) PMID:15090455|REF_RGD_ID:8158050 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1314945 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17301648|PMID:17489054|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:0111122 nephronophthisis 14 ISO RGD:1314945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:1024 leprosy ISO RGD:1314945 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:104 bacterial infectious disease ISO RGD:1314946 D RGD:9068941 20200609 RGD associated with Virus Diseases PMID:21669398|REF_RGD_ID:5508748 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:10457 Legionnaires' disease ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20685341|REF_RGD_ID:5131443 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:11729 Lyme disease ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:21387014|REF_RGD_ID:5508754 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:13141 uveitis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:21296813|REF_RGD_ID:5508729 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion: : 3020_3021insC (human) PMID:16267612|REF_RGD_ID:5131514 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease ISO RGD:1314945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:28492532 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease no_association ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) PMID:15515785|REF_RGD_ID:13204711 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp, insertion:exons:p.R702W, p.L1007insC (human) PMID:19748964|REF_RGD_ID:8158059 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:13406 pulmonary sarcoidosis disease_progression ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:2104C>T (human) PMID:19679608|REF_RGD_ID:4892066 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion: : 3020_3021insC (human) PMID:16267612|REF_RGD_ID:5131514 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:1936 atherosclerosis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:24324141|REF_RGD_ID:8158039 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:224 transient cerebral ischemia ISO RGD:1314946 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:20863826|REF_RGD_ID:5508733 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2280 hidradenitis suppurativa ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3135499,rs2066842(human) PMID:20595247|REF_RGD_ID:13204725 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2394 ovarian cancer ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion:Cds: 3020_3021insC (human) PMID:20223031|REF_RGD_ID:5131515 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2596 larynx cancer onset ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion:Cds: 3020_3021insC (human) PMID:20223031|REF_RGD_ID:5131515 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2723 dermatitis ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19467619 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:1314945 D RGD:9068941 20200609 RGD PMID:18158963|REF_RGD_ID:5131450 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2841 asthma ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:21051079|REF_RGD_ID:5508757 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2841 asthma susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human) PMID:16008671|REF_RGD_ID:5131477 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1314945 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:17576681|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25093298|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26774591|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28166811|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958|PMID:9536098 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNPs:CDs:p.P268S, R702W, A725G (human) PMID:18419343|REF_RGD_ID:5131510 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:2987 familial mediterranean fever severity ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) PMID:22244368|REF_RGD_ID:13204709 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1077861) (human) PMID:21943069|REF_RGD_ID:5508720 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:3393 coronary artery disease ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.G908R, 3020_3021insC (human) PMID:21565239|REF_RGD_ID:5508725 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1306368 D RGD:9068941 20200609 RGD PMID:24842554|REF_RGD_ID:13204729 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:4029 gastritis ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) PMID:20230816|REF_RGD_ID:5508759 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:417 autoimmune disease ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human) PMID:20646002|REF_RGD_ID:5508739 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:4481 allergic rhinitis ISO RGD:1314945 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa (human) PMID:23858718|REF_RGD_ID:8547523 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:2104C>T,2722G>C (human) PMID:12704363|REF_RGD_ID:5131484 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:4989 pancreatitis ISO RGD:1306368 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:pancreas, blood cells PMID:20442679|REF_RGD_ID:5131438 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:5295 intestinal disease ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human) PMID:20646002|REF_RGD_ID:5508739 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:630 genetic disease ISO RGD:1314945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19479836|PMID:25741868|PMID:28492532 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:6543 acne ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8553 pyoderma gangrenosum ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8577 ulcerative colitis ISO RGD:1314945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20452301 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20580721|REF_RGD_ID:8547529 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:874 bacterial pneumonia ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:19360122|REF_RGD_ID:5131449 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1314945 D RGD:7240710 20180523 OMIM 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1314945 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Crohn disease | ClinVar Annotator: match by term: Enteritis, Granulomatous | ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17301648|PMID:17489054|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease no_association ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutation: :p.R702W, p.G908R, 3020_3021insC (human) PMID:21155887|REF_RGD_ID:5508730 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:8778 Crohn's disease susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations PMID:11385576|REF_RGD_ID:1600778 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9000099 Experimental Colitis ISO RGD:1306368 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa: PMID:22997830|REF_RGD_ID:13204727 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1314946 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:25443778|REF_RGD_ID:9831197 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9000156 Metaplasia ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human) PMID:20230816|REF_RGD_ID:5508759 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20493961|REF_RGD_ID:5131444 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9002019 Granuloma ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20679225|REF_RGD_ID:5508736 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1314946 D RGD:9068941 20200609 RGD PMID:20131263|PMID:21424514|REF_RGD_ID:5508728|REF_RGD_ID:8552884 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9002720 Splenomegaly susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency;DNA:missense mutation:cds:p.R702W (rs2066844) (human) PMID:20646002|REF_RGD_ID:5508739 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:insertion:Cds: 3020_3021insC (human) PMID:20223031|REF_RGD_ID:5131515 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004009 Reperfusion Injury ISO RGD:1306368 D RGD:9068941 20200609 RGD protein:increased expression:small intestine PMID:20107953|REF_RGD_ID:5131440 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004484 Sepsis ISO RGD:1306368 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine mucosa (rat) PMID:24059417|REF_RGD_ID:8547531 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004484 Sepsis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutation:cds:p.R702W, p.G908R, 3020_3021insC (human) PMID:21460759|REF_RGD_ID:5508752 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004527 YAO SYNDROME ISO RGD:1314945 D RGD:7240710 20210127 OMIM 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004527 YAO SYNDROME ISO RGD:1314945 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Yao syndrome PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15190267|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16416181|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:32597225|PMID:32716958 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1306368 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22575870|REF_RGD_ID:8547530 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9004945 Ocular Toxoplasmosis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.*397A>C (rs3135499)(human) PMID:23100559|REF_RGD_ID:8547527 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9005036 Bacteremia severity ISO RGD:1314945 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:24086711|REF_RGD_ID:13204726 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9007906 PFAPA Syndrome ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutations:cds PMID:21914217|REF_RGD_ID:13204855 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human) PMID:16008671|REF_RGD_ID:5131477 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314945 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:21886831|REF_RGD_ID:5508746 8720074 Nod2 nucleotide binding oligomerization domain containing 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1314945 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G908R (rs2066845)(human) PMID:16642031|REF_RGD_ID:13204710 8720095 Bpgm bisphosphoglycerate mutase gene DOID:0111630 familial erythrocytosis 8 ISO RGD:1605438 D RGD:7240710 20180130 OMIM 8720095 Bpgm bisphosphoglycerate mutase gene DOID:0111630 familial erythrocytosis 8 ISO RGD:1605438 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diphosphoglycerate mutase deficiency of erythrocyte PMID:1421379|PMID:15054810|PMID:152321|PMID:25015942|PMID:2542247|PMID:25741868|PMID:28492532 8720095 Bpgm bisphosphoglycerate mutase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8720095 Bpgm bisphosphoglycerate mutase gene DOID:630 genetic disease ISO RGD:1605438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:0050534 congenital stationary night blindness ISO RGD:1318857 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:10369264|PMID:10617778|PMID:11053295|PMID:11078852|PMID:11675386|PMID:15007239|PMID:15302662|PMID:15790919|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:25741868|PMID:28492532|PMID:36909829 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1318857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant PMID:25741868|PMID:28492532|PMID:30718709 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:11105 fundus albipunctatus ISO RGD:1318857 D RGD:7240710 20180130 OMIM 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:11105 fundus albipunctatus ISO RGD:1318857 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10369264|PMID:10617778|PMID:11053295|PMID:11053296|PMID:11078852|PMID:11153648|PMID:11470705|PMID:11675386|PMID:12860821|PMID:14991316|PMID:15007239|PMID:15302662|PMID:15790919|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:22669287|PMID:22736946|PMID:22815624|PMID:24033266|PMID:25170858|PMID:25587058|PMID:25741868|PMID:25820994|PMID:27627638|PMID:28393863|PMID:28492532|PMID:29847639|PMID:30718709|PMID:32232344|PMID:32531858|PMID:36909829 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:11830 myopia ISO RGD:1318857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:630 genetic disease ISO RGD:1318857 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:8499 night blindness ISO RGD:1318857 D RGD:9068941 20200609 RGD fundus albipunctatus (congenital night-blindness disorder), OMIM:601617 Gly238Trp, Arg280His, Ala294Pro PMID:10617778|REF_RGD_ID:1599416 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:8501 fundus dystrophy ISO RGD:1318857 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11675386|PMID:20829743|PMID:22815624|PMID:23462753|PMID:24603341|PMID:25741868|PMID:28418496|PMID:28492532|PMID:29847639 8720110 Rdh5 retinol dehydrogenase 5 gene DOID:9005835 Congenital Abnormalities ISO RGD:1318857 D RGD:9068941 20200609 RGD fundus albipunctatus (congenital night-blindness disorder), OMIM:601617 Gly238Trp, Arg280His, Ala294Pro PMID:10617778|REF_RGD_ID:1599416 8720125 Sh2d4a SH2 domain containing 4A gene DOID:0080600 COVID-19 ISO RGD:1317502 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8720125 Sh2d4a SH2 domain containing 4A gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1317502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8720125 Sh2d4a SH2 domain containing 4A gene DOID:630 genetic disease ISO RGD:1317502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720163 Traf1 TNF receptor associated factor 1 gene DOID:13832 patent ductus arteriosus ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336370 8720163 Traf1 TNF receptor associated factor 1 gene DOID:2377 multiple sclerosis ISO RGD:1351243 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8720163 Traf1 TNF receptor associated factor 1 gene DOID:630 genetic disease ISO RGD:1351243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720163 Traf1 TNF receptor associated factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:23143596 8720163 Traf1 TNF receptor associated factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8720163 Traf1 TNF receptor associated factor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8720188 Tmem11 transmembrane protein 11 gene DOID:630 genetic disease ISO RGD:1320357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720197 Psme3ip1 proteasome activator subunit 3 interacting protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8720197 Psme3ip1 proteasome activator subunit 3 interacting protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8720197 Psme3ip1 proteasome activator subunit 3 interacting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8720197 Psme3ip1 proteasome activator subunit 3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720223 Cdc34 cell division cycle 34, ubiqiutin conjugating enzyme gene DOID:630 genetic disease ISO RGD:1313428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720232 Ngfr nerve growth factor receptor gene DOID:0050328 congenital hypothyroidism treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23312094|REF_RGD_ID:10414076 8720232 Ngfr nerve growth factor receptor gene DOID:0050741 alcohol dependence ISO RGD:3177 D RGD:9068941 20240229 RGD protein:altered expression:brain,neuron PMID:7609866|REF_RGD_ID:401976553 8720232 Ngfr nerve growth factor receptor gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23528019|REF_RGD_ID:7242845 8720232 Ngfr nerve growth factor receptor gene DOID:0080855 Parkinsonism treatment ISO RGD:3177 D RGD:9068941 20240203 RGD PMID:20581854|REF_RGD_ID:401965387 8720232 Ngfr nerve growth factor receptor gene DOID:0111565 trichodontoosseous syndrome ISO RGD:730911 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8720232 Ngfr nerve growth factor receptor gene DOID:10487 Hirschsprung's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:lamina propria:lack of staining is a marker for HD PMID:7807351|REF_RGD_ID:5508387 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:10983 D RGD:9068941 20200609 RGD protein:altered localization:brain PMID:19334058|REF_RGD_ID:5508225 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD PMID:2557638|REF_RGD_ID:10414073 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs2072446 PMID:18780967|REF_RGD_ID:5508228 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:altered expression:urine PMID:8215963|REF_RGD_ID:10413893 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:basal nucleus of telencephalon, neuron PMID:10683291|REF_RGD_ID:10413892 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:730911 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:22236693|REF_RGD_ID:10413891 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:23545424|REF_RGD_ID:10413895 8720232 Ngfr nerve growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:19070649|REF_RGD_ID:10413894 8720232 Ngfr nerve growth factor receptor gene DOID:10762 portal hypertension ISO RGD:3177 D RGD:9068941 20200609 RGD protein:increased expression:superior mesenteric ganglion PMID:22292477|REF_RGD_ID:10414081 8720232 Ngfr nerve growth factor receptor gene DOID:10763 hypertension ISO RGD:3177 D RGD:9068941 20200609 RGD DNA,protein:missense mutation:CDS:c.28G>A, p.A10T (rat strains: SHR/Izm, SHRSP/Izm, WKHT) PMID:8762194|REF_RGD_ID:5508800 8720232 Ngfr nerve growth factor receptor gene DOID:11446 sciatic neuropathy ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:17576803|REF_RGD_ID:5144067 8720232 Ngfr nerve growth factor receptor gene DOID:11446 sciatic neuropathy ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23138653|REF_RGD_ID:10414078 8720232 Ngfr nerve growth factor receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 8720232 Ngfr nerve growth factor receptor gene DOID:11832 visual epilepsy treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:12873743|REF_RGD_ID:9743975 8720232 Ngfr nerve growth factor receptor gene DOID:12217 Lewy body dementia ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:8347330|REF_RGD_ID:10413896 8720232 Ngfr nerve growth factor receptor gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:19824047|REF_RGD_ID:4891065 8720232 Ngfr nerve growth factor receptor gene DOID:12858 Huntington's disease ISO RGD:730911 D RGD:9068941 20200609 RGD mRNA:increased expression:caudate nucleus PMID:18093249|REF_RGD_ID:10058981 8720232 Ngfr nerve growth factor receptor gene DOID:1289 neurodegenerative disease ISO RGD:730911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12097334 8720232 Ngfr nerve growth factor receptor gene DOID:1307 dementia ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;protein:decreased expression:medial septal nucleus PMID:8232919|REF_RGD_ID:10413897 8720232 Ngfr nerve growth factor receptor gene DOID:14330 Parkinson's disease ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:8347330|REF_RGD_ID:10413896 8720232 Ngfr nerve growth factor receptor gene DOID:1555 urticaria ISO RGD:730911 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:12653731|REF_RGD_ID:5508479 8720232 Ngfr nerve growth factor receptor gene DOID:1596 depressive disorder ISO RGD:730911 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.S205L, minor (L) allele appears protective PMID:15274039|REF_RGD_ID:5508376 8720232 Ngfr nerve growth factor receptor gene DOID:1679 cystitis ISO RGD:3177 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:lumbosacral dorsal root ganglia PMID:18189308|REF_RGD_ID:5508447 8720232 Ngfr nerve growth factor receptor gene DOID:1686 glaucoma ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:20943663|REF_RGD_ID:5508695 8720232 Ngfr nerve growth factor receptor gene DOID:1793 pancreatic cancer severity ISO RGD:730911 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:associated with longer overall survival PMID:16704535|REF_RGD_ID:5508229 8720232 Ngfr nerve growth factor receptor gene DOID:1909 melanoma ISO RGD:730911 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30339727 8720232 Ngfr nerve growth factor receptor gene DOID:1936 atherosclerosis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:adventitia, vasa vasorum PMID:11689207|REF_RGD_ID:5508382 8720232 Ngfr nerve growth factor receptor gene DOID:224 transient cerebral ischemia ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:11124986|REF_RGD_ID:9743974 8720232 Ngfr nerve growth factor receptor gene DOID:2377 multiple sclerosis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:reactive astrocytes, microglia/macrophages PMID:11829348|REF_RGD_ID:5508481 8720232 Ngfr nerve growth factor receptor gene DOID:2841 asthma ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:12540484|PMID:16603479|REF_RGD_ID:5144070|REF_RGD_ID:5144072 8720232 Ngfr nerve growth factor receptor gene DOID:3310 atopic dermatitis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:nerve fibers of the papillary dermis PMID:16586073|REF_RGD_ID:5508452 8720232 Ngfr nerve growth factor receptor gene DOID:3393 coronary artery disease ISO RGD:730911 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 8720232 Ngfr nerve growth factor receptor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:22678884|REF_RGD_ID:10413900 8720232 Ngfr nerve growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:17576803|REF_RGD_ID:5144067 8720232 Ngfr nerve growth factor receptor gene DOID:4483 rhinitis ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:blood, eosinophil PMID:18647313|REF_RGD_ID:5144116 8720232 Ngfr nerve growth factor receptor gene DOID:6000 congestive heart failure ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Myocardial Infarction ;mRNA:increased expression:heart left ventricle, septum (rat) PMID:16497176|REF_RGD_ID:1642301 8720232 Ngfr nerve growth factor receptor gene DOID:630 genetic disease ISO RGD:730911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720232 Ngfr nerve growth factor receptor gene DOID:90 degenerative disc disease ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:20973063|REF_RGD_ID:5144150 8720232 Ngfr nerve growth factor receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:11223160|REF_RGD_ID:5144100 8720232 Ngfr nerve growth factor receptor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23748892|REF_RGD_ID:10414079 8720232 Ngfr nerve growth factor receptor gene DOID:9000310 Lung Injury ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:17673270|REF_RGD_ID:5144065 8720232 Ngfr nerve growth factor receptor gene DOID:9000641 Pain ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Inflammation PMID:20060234|REF_RGD_ID:5144063 8720232 Ngfr nerve growth factor receptor gene DOID:9000998 Brain Injuries treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:23940017|REF_RGD_ID:10414074 8720232 Ngfr nerve growth factor receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:22302815|REF_RGD_ID:10413905 8720232 Ngfr nerve growth factor receptor gene DOID:9001240 Peripheral Nerve Injuries treatment ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:22669154|REF_RGD_ID:10413899 8720232 Ngfr nerve growth factor receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:3177 D RGD:9068941 20200609 RGD associated with Brachial Plexus Neuropathies PMID:23324933|REF_RGD_ID:10413898 8720232 Ngfr nerve growth factor receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:730911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17409433|PMID:18056468 8720232 Ngfr nerve growth factor receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA:increased expression:central nervous system PMID:8866783|REF_RGD_ID:5508386 8720232 Ngfr nerve growth factor receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:10983 D RGD:9068941 20200609 RGD PMID:16519950|REF_RGD_ID:5508312 8720232 Ngfr nerve growth factor receptor gene DOID:9002955 Nerve Degeneration ISO RGD:730911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10436046 8720232 Ngfr nerve growth factor receptor gene DOID:9004354 Alcohol-Related Disorders ISO RGD:3177 D RGD:9068941 20240229 RGD protein:altered expression:brain PMID:15188277|REF_RGD_ID:401976555 8720232 Ngfr nerve growth factor receptor gene DOID:9004354 Alcohol-Related Disorders ISO RGD:3177 D RGD:9068941 20240229 RGD protein:decreased expression:brain PMID:15188276|REF_RGD_ID:401976554 8720232 Ngfr nerve growth factor receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3177 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21136036|REF_RGD_ID:5144144 8720232 Ngfr nerve growth factor receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3177 D RGD:9068941 20240309 RGD protein:decreased expression:telencephalon PMID:26282349|REF_RGD_ID:402463971 8720232 Ngfr nerve growth factor receptor gene DOID:9005908 Retrograde Degeneration ISO RGD:3177 D RGD:9068941 20240309 RGD protein:decreased expression:forebrain PMID:29609077|REF_RGD_ID:402463965 8720232 Ngfr nerve growth factor receptor gene DOID:9006190 Chronic Pancreatitis ISO RGD:730911 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12741461|REF_RGD_ID:5508378 8720232 Ngfr nerve growth factor receptor gene DOID:9007500 Prurigo ISO RGD:730911 D RGD:9068941 20200609 RGD protein:increased expression:skin Schwann cells, skin perineurium cells PMID:10025723|REF_RGD_ID:5508384 8720232 Ngfr nerve growth factor receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:3177 D RGD:9068941 20200609 RGD PMID:20943663|REF_RGD_ID:5508695 8720232 Ngfr nerve growth factor receptor gene DOID:9743 diabetic neuropathy ISO RGD:3177 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:dorsal root ganglia (GK/KyoSwe) PMID:12469361|REF_RGD_ID:5508379 8720242 Hgd homogentisate 1,2-dioxygenase gene DOID:630 genetic disease ISO RGD:1318713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8720242 Hgd homogentisate 1,2-dioxygenase gene DOID:9000709 Hereditary Ochronosis ISO RGD:1318713 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ochronosis, hereditary PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:12501223|PMID:16199547|PMID:19096913|PMID:19862842|PMID:20301627|PMID:23430897|PMID:25741868|PMID:28492532|PMID:9529363 8720242 Hgd homogentisate 1,2-dioxygenase gene DOID:9006239 Alkaptonuric Ochronosis ISO RGD:1318713 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Alkaptonuric ochronosis PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:12501223|PMID:16199547|PMID:19096913|PMID:19862842|PMID:20301627|PMID:23430897|PMID:25741868|PMID:28492532|PMID:9529363 8720242 Hgd homogentisate 1,2-dioxygenase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8720242 Hgd homogentisate 1,2-dioxygenase gene DOID:9270 alkaptonuria ISO RGD:1318713 D RGD:7240710 20180130 OMIM 8720242 Hgd homogentisate 1,2-dioxygenase gene DOID:9270 alkaptonuria ISO RGD:1318713 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Alkaptonuria | ClinVar Annotator: match by term: Homogentisic acidura PMID:1001939|PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:10819641|PMID:10970188|PMID:11001939|PMID:11017803|PMID:12051967|PMID:12114497|PMID:12501223|PMID:12872815|PMID:12872836|PMID:1360590|PMID:14978662|PMID:16085442|PMID:16199547|PMID:17576681|PMID:18945288|PMID:19096913|PMID:19306858|PMID:19862842|PMID:20301627|PMID:20462779|PMID:2114497|PMID:21437689|PMID:21720873|PMID:21822197|PMID:23092576|PMID:23353776|PMID:23430897|PMID:23519186|PMID:24575791|PMID:25153563|PMID:25233259|PMID:25525159|PMID:25681086|PMID:25741868|PMID:25804398|PMID:26960557|PMID:27026014|PMID:28492532|PMID:30737480|PMID:31927521|PMID:32212000|PMID:33621656|PMID:33746036|PMID:34008892|PMID:34504318|PMID:34686677|PMID:35550814|PMID:36253209|PMID:8782815|PMID:9154114|PMID:9529363|PMID:9536098|PMID:9630082|PMID:9674916 8720270 Mier2 MIER family member 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8720270 Mier2 MIER family member 2 gene DOID:630 genetic disease ISO RGD:1316379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720270 Mier2 MIER family member 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1316379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8720300 Fam43a family with sequence similarity 43 member A gene DOID:630 genetic disease ISO RGD:1343774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720300 Fam43a family with sequence similarity 43 member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:3652 Leigh disease ISO RGD:1349733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8720314 Gtf3c4 general transcription factor IIIC subunit 4 gene DOID:630 genetic disease ISO RGD:1349733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720329 Grik1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:1824 status epilepticus ISO RGD:2732 D RGD:9068941 20200609 RGD PMID:12724156|REF_RGD_ID:1642496 8720329 Grik1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:1825 childhood absence epilepsy ISO RGD:731546 D RGD:9068941 20200609 RGD PMID:9259378|REF_RGD_ID:1358334 8720329 Grik1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:5419 schizophrenia no_association ISO RGD:731546 D RGD:9068941 20200609 RGD DNA:SNPs:three known and three novel:Japanese population PMID:11702055|REF_RGD_ID:1642476 8720329 Grik1 glutamate ionotropic receptor kainate type subunit 1 gene DOID:630 genetic disease ISO RGD:731546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720362 Etfrf1 electron transfer flavoprotein regulatory factor 1 gene DOID:630 genetic disease ISO RGD:1606960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720387 Fgf7 fibroblast growth factor 7 gene DOID:10283 prostate cancer ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland stroma, hormone insensitive tumors PMID:9285567|REF_RGD_ID:2289086 8720387 Fgf7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:62097 D RGD:9068941 20200609 RGD PMID:9000125|REF_RGD_ID:2301094 8720387 Fgf7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14999240 8720387 Fgf7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate PMID:11482780|REF_RGD_ID:2289085 8720387 Fgf7 fibroblast growth factor 7 gene DOID:11132 prostatic hypertrophy no_association ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:9285567|REF_RGD_ID:2289086 8720387 Fgf7 fibroblast growth factor 7 gene DOID:127 leiomyoma ISO RGD:69203 D RGD:9068941 20200609 RGD PMID:18566572|REF_RGD_ID:2301090 8720387 Fgf7 fibroblast growth factor 7 gene DOID:1749 squamous cell carcinoma ISO RGD:69203 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 8720387 Fgf7 fibroblast growth factor 7 gene DOID:2394 ovarian cancer ISO RGD:69203 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:11000522|REF_RGD_ID:2289080 8720387 Fgf7 fibroblast growth factor 7 gene DOID:2717 Bloom syndrome ISO RGD:69203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8720387 Fgf7 fibroblast growth factor 7 gene DOID:2871 endometrial carcinoma ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:9070494|REF_RGD_ID:2301091 8720387 Fgf7 fibroblast growth factor 7 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:69203 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8720387 Fgf7 fibroblast growth factor 7 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:69203 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 8720387 Fgf7 fibroblast growth factor 7 gene DOID:3770 pulmonary fibrosis ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15677771 8720387 Fgf7 fibroblast growth factor 7 gene DOID:5082 liver cirrhosis ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17692400 8720387 Fgf7 fibroblast growth factor 7 gene DOID:630 genetic disease ISO RGD:69203 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720387 Fgf7 fibroblast growth factor 7 gene DOID:674 cleft palate ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8720387 Fgf7 fibroblast growth factor 7 gene DOID:8577 ulcerative colitis ISO RGD:69203 D RGD:9068941 20210604 RGD mRNA:increased expression:colon, lamina propria, myofibroblasts (human) PMID:9358773|REF_RGD_ID:126928145 8720387 Fgf7 fibroblast growth factor 7 gene DOID:8778 Crohn's disease ISO RGD:69203 D RGD:9068941 20210604 RGD mRNA:increased expression:colon, ileum, myofibroblasts (human) PMID:9358773|REF_RGD_ID:126928145 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9000099 Experimental Colitis treatment ISO RGD:69203 D RGD:9068941 20210528 RGD human protein in mouse model PMID:10219846|REF_RGD_ID:126928136 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9000310 Lung Injury ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18385170 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9002221 Hyperplasia ISO RGD:62097 D RGD:9068941 20210604 RGD mRNA:increased expression:distal colon (mouse) PMID:10338516|REF_RGD_ID:126928149 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9003281 Spontaneous Abortions ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9003491 Enterobacteriaceae Infections ISO RGD:62097 D RGD:9068941 20210604 RGD mRNA:increased expression:distal colon (mouse) PMID:10338516|REF_RGD_ID:126928149 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9004009 Reperfusion Injury ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:62097 D RGD:9068941 20200609 RGD PMID:9000125|REF_RGD_ID:2301094 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9006010 Gingival Hyperplasia ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023675 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:69203 D RGD:9068941 20210528 RGD human protein in rat model PMID:11076810|REF_RGD_ID:126928130 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9256 colorectal cancer ISO RGD:69203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8720387 Fgf7 fibroblast growth factor 7 gene DOID:9296 cleft lip ISO RGD:69203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8720402 Stk25 serine/threonine kinase 25 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8720402 Stk25 serine/threonine kinase 25 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8720402 Stk25 serine/threonine kinase 25 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8720402 Stk25 serine/threonine kinase 25 gene DOID:1059 intellectual disability ISO RGD:1342524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8720402 Stk25 serine/threonine kinase 25 gene DOID:630 genetic disease ISO RGD:1342524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720402 Stk25 serine/threonine kinase 25 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1342524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:0080074 neural tube defect ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17035141 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:3526 cerebral infarction susceptibility ISO RGD:1346951 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes:multiple PMID:20458436|REF_RGD_ID:401794454 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:630 genetic disease ISO RGD:1346951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346951 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:893 Wilson disease ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:9477 pulmonary embolism susceptibility ISO RGD:1346951 D RGD:9068941 20230615 RGD DNA:SNP:exon 6: p.R239Q G>A (rs3733890) (human) PMID:37203835|REF_RGD_ID:329853743 8720450 Bhmt betaine--homocysteine S-methyltransferase gene DOID:9667 placental abruption ISO RGD:1346951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376725 8720467 Il17rd interleukin 17 receptor D gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1353408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25636053|PMID:25741868|PMID:28492532|PMID:32389901 8720467 Il17rd interleukin 17 receptor D gene DOID:0060857 septooptic dysplasia ISO RGD:1353408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 8720467 Il17rd interleukin 17 receptor D gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8720467 Il17rd interleukin 17 receptor D gene DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia ISO RGD:1353408 D RGD:7240710 20180130 OMIM 8720467 Il17rd interleukin 17 receptor D gene DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia ISO RGD:1353408 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia PMID:23643382|PMID:25636053|PMID:25741868|PMID:28492532 8720467 Il17rd interleukin 17 receptor D gene DOID:1924 hypogonadism ISO RGD:1353408 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadism PMID:25741868 8720467 Il17rd interleukin 17 receptor D gene DOID:630 genetic disease ISO RGD:1353408 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8720467 Il17rd interleukin 17 receptor D gene DOID:9000998 Brain Injuries ISO RGD:1353408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8720467 Il17rd interleukin 17 receptor D gene DOID:9001239 Delayed Puberty ISO RGD:1353408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:23643382|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32389901 8720467 Il17rd interleukin 17 receptor D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16474841 8720467 Il17rd interleukin 17 receptor D gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1353408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8720484 Spdl1 spindle apparatus coiled-coil protein 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1606284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 8720484 Spdl1 spindle apparatus coiled-coil protein 1 gene DOID:630 genetic disease ISO RGD:1606284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720484 Spdl1 spindle apparatus coiled-coil protein 1 gene DOID:9008539 Perinatal Death ISO RGD:1606284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065 8720519 Gip gastric inhibitory polypeptide gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1353884 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8720519 Gip gastric inhibitory polypeptide gene DOID:11465 autonomic nervous system disease ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) PMID:18376350|REF_RGD_ID:2312592 8720519 Gip gastric inhibitory polypeptide gene DOID:11612 polycystic ovary syndrome ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Obesity; protein:increased expression:plasma (human) PMID:19375579|REF_RGD_ID:2312588 8720519 Gip gastric inhibitory polypeptide gene DOID:1459 hypothyroidism ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:9030821|REF_RGD_ID:2312549 8720519 Gip gastric inhibitory polypeptide gene DOID:2018 hyperinsulinism ISO RGD:2709 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:8059006|REF_RGD_ID:2312550 8720519 Gip gastric inhibitory polypeptide gene DOID:26 pancreas disease ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:3892654|REF_RGD_ID:2312553 8720519 Gip gastric inhibitory polypeptide gene DOID:4195 hyperglycemia ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) PMID:19174495|REF_RGD_ID:2312590 8720519 Gip gastric inhibitory polypeptide gene DOID:630 genetic disease ISO RGD:1353884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720519 Gip gastric inhibitory polypeptide gene DOID:9001109 Anorexia ISO RGD:1353884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28633506|PMID:28666375|PMID:29689362 8720519 Gip gastric inhibitory polypeptide gene DOID:9005587 Starvation ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:duodenum, jejunum (rat) PMID:6140913|REF_RGD_ID:2312554 8720519 Gip gastric inhibitory polypeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2709 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:12789546|REF_RGD_ID:2312548 8720519 Gip gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353884 D RGD:9068941 20200609 RGD PMID:19473824|REF_RGD_ID:2312587 8720519 Gip gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353884 D RGD:9068941 20200609 RGD disease in rat treated with human protein PMID:19126188|REF_RGD_ID:2312591 8720519 Gip gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552008 D RGD:9068941 20200609 RGD PMID:18937625|REF_RGD_ID:2312589 8720519 Gip gastric inhibitory polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:2709 D RGD:9068941 20200609 RGD PMID:19056762|REF_RGD_ID:2312529 8720519 Gip gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:1353884 D RGD:9068941 20200609 RGD PMID:3546047|REF_RGD_ID:2312551 8720519 Gip gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:1353884 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome; protein:increased expression:plasma (human) PMID:19375579|REF_RGD_ID:2312588 8720519 Gip gastric inhibitory polypeptide gene DOID:9970 obesity ISO RGD:2709 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:18063845|REF_RGD_ID:2312547 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1316230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0080855 Parkinsonism ISO RGD:1307189 D RGD:9068941 20200609 RGD PMID:18534259|REF_RGD_ID:2302392 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:24140114|PMID:28492532 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1316230 D RGD:7240710 20190327 OMIM 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1316230 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 PMID:16199547|PMID:16303288|PMID:17576681|PMID:22013103|PMID:24033266|PMID:24140114|PMID:24702956|PMID:24888602|PMID:25237204|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:29921932|PMID:30697212|PMID:30941118|PMID:31417880|PMID:32506361|PMID:32888943|PMID:34619682|PMID:34975878|PMID:36703223|PMID:9536098 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1316231 D RGD:9068941 20201218 RGD PMID:20565293|REF_RGD_ID:40902858 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1316230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118|PMID:30953794 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:630 genetic disease ISO RGD:1316230 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:649 prion disease ISO RGD:1316231 D RGD:9068941 20201218 RGD PMID:17573907|REF_RGD_ID:40902830 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:8929 atrophic gastritis ISO RGD:1316231 D RGD:9068941 20201218 RGD associated with Helicobacter Infections PMID:23975431|REF_RGD_ID:40902973 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:9001455 Intestinal Helminthiasis treatment ISO RGD:1316231 D RGD:9068941 20201225 RGD PMID:12370384|REF_RGD_ID:40902988 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1307189 D RGD:9068941 20200609 RGD protein:increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:9004649 Heat Stroke ISO RGD:1316230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8720526 Nfkb2 nuclear factor kappa B subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307189 D RGD:9068941 20200609 RGD PMID:18633731|REF_RGD_ID:2298775 8720560 Exosc2 exosome component 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8720560 Exosc2 exosome component 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315266 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8720560 Exosc2 exosome component 2 gene DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ISO RGD:1315266 D RGD:7240710 20190315 OMIM 8720560 Exosc2 exosome component 2 gene DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies ISO RGD:1315266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies PMID:14647208|PMID:15060126|PMID:24447024|PMID:25741868|PMID:26843489|PMID:28492532|PMID:31628467|PMID:34162742 8720560 Exosc2 exosome component 2 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1315266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 8720560 Exosc2 exosome component 2 gene DOID:630 genetic disease ISO RGD:1315266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8720560 Exosc2 exosome component 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1315266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8720560 Exosc2 exosome component 2 gene DOID:9273 citrullinemia ISO RGD:1315266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1312492 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1312492 D RGD:7240710 20180130 OMIM 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1312492 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ig PMID:11983712|PMID:12093361|PMID:12217961|PMID:12736397|PMID:15639192|PMID:16199547|PMID:16435218|PMID:17506107|PMID:17576681|PMID:25019053|PMID:25326635|PMID:25741868|PMID:28492532|PMID:30266093|PMID:31481313|PMID:33461977|PMID:35279850|PMID:9536098 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:10581 metachromatic leukodystrophy ISO RGD:1312492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1312492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15639192|PMID:25019053|PMID:25741868|PMID:28492532|PMID:31481313 8720573 Alg12 ALG12 alpha-1,6-mannosyltransferase gene DOID:9007661 Dwarfism ISO RGD:1312492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8720593 Ppp1r18 protein phosphatase 1 regulatory subunit 18 gene DOID:11372 megacolon ISO RGD:1319936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8720593 Ppp1r18 protein phosphatase 1 regulatory subunit 18 gene DOID:630 genetic disease ISO RGD:1319936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720593 Ppp1r18 protein phosphatase 1 regulatory subunit 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8720602 Dmbx1 diencephalon/mesencephalon homeobox 1 gene DOID:630 genetic disease ISO RGD:1317940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720602 Dmbx1 diencephalon/mesencephalon homeobox 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 8720614 Prdm13 PR/SET domain 13 gene DOID:0070439 North Carolina macular dystrophy ISO RGD:1322406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy retinal 1 North Carolina type | ClinVar Annotator: match by term: North Carolina macular dystrophy PMID:10617775|PMID:25741868|PMID:26507665|PMID:27551809|PMID:28492532|PMID:28790370|PMID:31043363|PMID:31814698|PMID:32476814|PMID:9238090|PMID:9801042|PMID:9924305 8720614 Prdm13 PR/SET domain 13 gene DOID:630 genetic disease ISO RGD:1322406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8720614 Prdm13 PR/SET domain 13 gene DOID:8501 fundus dystrophy ISO RGD:1322406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 8720614 Prdm13 PR/SET domain 13 gene DOID:9002530 pontocerebellar hypoplasia type 17 ISO RGD:1322406 D RGD:7240710 20220629 OMIM 8720614 Prdm13 PR/SET domain 13 gene DOID:9002530 pontocerebellar hypoplasia type 17 ISO RGD:1322406 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 PMID:35390279 8720614 Prdm13 PR/SET domain 13 gene DOID:9003751 CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM ISO RGD:1322406 D RGD:7240710 20220316 OMIM 8720614 Prdm13 PR/SET domain 13 gene DOID:9003751 CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM ISO RGD:1322406 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: PRDM13-related condition PMID:25741868|PMID:28492532|PMID:34730112 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0050476 Barth syndrome ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0050735 X-linked monogenic disease ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19703807 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0081060 X-linked nephrogenic diabetes insipidus ISO RGD:730975 D RGD:7240710 20210630 OMIM 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0081060 X-linked nephrogenic diabetes insipidus ISO RGD:730975 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AVPR2-related condition | ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, X-linked PMID:10026829|PMID:10526945|PMID:10770218|PMID:10820167|PMID:10820168|PMID:11095010|PMID:11128419|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:12955588|PMID:1303257|PMID:1303271|PMID:1356229|PMID:14709855|PMID:15166253|PMID:15522100|PMID:15841479|PMID:15872203|PMID:16319185|PMID:16580609|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17216256|PMID:17491025|PMID:18726898|PMID:19179480|PMID:19587238|PMID:19812297|PMID:20403097|PMID:22144672|PMID:22644838|PMID:23762448|PMID:24033266|PMID:25324589|PMID:25741868|PMID:26467025|PMID:27355191|PMID:27601473|PMID:27884173|PMID:28492532|PMID:29398133|PMID:29546600|PMID:29594432|PMID:30976394|PMID:32073219|PMID:32903920|PMID:32939031|PMID:33009446|PMID:33532864|PMID:33996673|PMID:34101133|PMID:4886456|PMID:5309332|PMID:7714087|PMID:7833930|PMID:7913579|PMID:7920187|PMID:7984150|PMID:7987330|PMID:7989330|PMID:8037205|PMID:8078903|PMID:8104196|PMID:8267567|PMID:8401502|PMID:8479490|PMID:8479491|PMID:8704106|PMID:8766931|PMID:8999963|PMID:9027323|PMID:9171234|PMID:9329382|PMID:9369448|PMID:9402087|PMID:9452109|PMID:9587067|PMID:9711877|PMID:9853256 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:730975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:730975 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis ISO RGD:730975 D RGD:7240710 20180130 OMIM 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis ISO RGD:730975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrogenic syndrome of inappropriate antidiuresis PMID:10820168|PMID:11095010|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:1303257|PMID:15166253|PMID:15872203|PMID:16319185|PMID:16580609|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17229917|PMID:19179480|PMID:20159941|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27117808|PMID:27355191|PMID:28492532|PMID:29398133|PMID:29546600|PMID:33996673|PMID:7920187|PMID:7984150|PMID:8037205|PMID:8104196|PMID:8999963|PMID:9452109|PMID:9711877 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:10763 hypertension severity ISO RGD:2186 D RGD:9068941 20200609 RGD PMID:12072411|REF_RGD_ID:1298694 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:730975 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Nephrogenic diabetes insipidus PMID:10026829|PMID:10714359|PMID:10749568|PMID:10770218|PMID:10820168|PMID:10918636|PMID:11095010|PMID:11128419|PMID:11134505|PMID:11232028|PMID:11754100|PMID:11916004|PMID:11920339|PMID:1303257|PMID:1303271|PMID:14709855|PMID:15166253|PMID:15522100|PMID:15841479|PMID:15872203|PMID:16319185|PMID:16502494|PMID:16580609|PMID:16689923|PMID:16825342|PMID:16843086|PMID:16845277|PMID:17216256|PMID:17491025|PMID:18407239|PMID:18726898|PMID:19179480|PMID:19729439|PMID:19812297|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29398133|PMID:29546600|PMID:33996673|PMID:34101133|PMID:7541187|PMID:7833930|PMID:7913579|PMID:7920187|PMID:7933835|PMID:7984150|PMID:8037205|PMID:8104196|PMID:8401502|PMID:8704106|PMID:8766931|PMID:8815789|PMID:8999963|PMID:9402087|PMID:9452109|PMID:9711877|PMID:9773787 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:12849 autistic disorder ISO RGD:730975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:13628 favism ISO RGD:730975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:5199 ureteral obstruction ISO RGD:2186 D RGD:9068941 20200609 RGD PMID:18971210|REF_RGD_ID:2312654 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:6000 congestive heart failure ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:607 paraplegia ISO RGD:730975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:630 genetic disease ISO RGD:730975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10820167|PMID:10820168|PMID:1303257|PMID:18726898|PMID:25741868|PMID:25937802|PMID:26077742|PMID:28492532 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:9002720 Splenomegaly ISO RGD:730975 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:9006257 Growth Disorders ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19703807 8720634 Avpr2 arginine vasopressin receptor 2 gene DOID:9008760 Oliguria ISO RGD:730975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7977526 8720662 Yipf5 Yip1 domain family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8720662 Yipf5 Yip1 domain family member 5 gene DOID:630 genetic disease ISO RGD:1602093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720662 Yipf5 Yip1 domain family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8720662 Yipf5 Yip1 domain family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8720662 Yipf5 Yip1 domain family member 5 gene DOID:9007409 Microcephaly, Epilepsy, and Diabetes Syndrome 2 ISO RGD:1602093 D RGD:7240710 20210505 OMIM 8720662 Yipf5 Yip1 domain family member 5 gene DOID:9007409 Microcephaly, Epilepsy, and Diabetes Syndrome 2 ISO RGD:1602093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 PMID:25741868|PMID:33164986 8720686 N6amt1 N-6 adenine-specific DNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720712 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:1520 colon carcinoma ISO RGD:68482 D RGD:9068941 20200609 RGD mRNA:increased expression:colonic mucosa (human) PMID:8541345|REF_RGD_ID:11352739 8720712 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:630 genetic disease ISO RGD:68482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720712 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9000998 Brain Injuries ISO RGD:68344 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex, hippocampus (rat) PMID:17936732|REF_RGD_ID:11041870 8720712 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:68482 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine (human) PMID:17634209|REF_RGD_ID:2311211 8720712 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68483 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:12171997|REF_RGD_ID:11352735 8720712 Uba52 ubiquitin A-52 residue ribosomal protein fusion product 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8720735 Ccdc80 coiled-coil domain containing 80 gene DOID:0080600 COVID-19 ISO RGD:736330 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8720735 Ccdc80 coiled-coil domain containing 80 gene DOID:3310 atopic dermatitis ISO RGD:736330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 8720735 Ccdc80 coiled-coil domain containing 80 gene DOID:630 genetic disease ISO RGD:736330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720735 Ccdc80 coiled-coil domain containing 80 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0050632 oculocutaneous albinism ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:25741868|PMID:28492532 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0050952 spastic ataxia ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:25741868|PMID:28492532 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:735888 D RGD:7240710 20180130 OMIM 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:735888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:10655068|PMID:12438241|PMID:12512044|PMID:15249642|PMID:16199547|PMID:17576681|PMID:18032455|PMID:20558530|PMID:20818383|PMID:20821052|PMID:21576695|PMID:21686617|PMID:23286897|PMID:25133958|PMID:25741868|PMID:28492532|PMID:30369941|PMID:34440436|PMID:9536098 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:735888 D RGD:7240710 20180130 OMIM 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 PMID:10655068|PMID:12512044|PMID:15249642|PMID:18032455|PMID:20818383|PMID:20821052|PMID:21576695|PMID:21686617|PMID:25741868|PMID:28492532|PMID:30369941|PMID:9584266 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:11054 urinary bladder cancer severity ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:18648853|REF_RGD_ID:2315629 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:1826 epilepsy ISO RGD:735888 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:2477 motor peripheral neuropathy ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10655068 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:3459 breast carcinoma severity ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:15941950|REF_RGD_ID:2315635 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:409 liver disease ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12512044 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:4450 renal cell carcinoma ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:14707866|REF_RGD_ID:2315633 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:630 genetic disease ISO RGD:735888 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:657 adenoma ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17684125 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:18343427|REF_RGD_ID:2315630 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:22919386|PMID:24763052 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:20003233|REF_RGD_ID:2315628 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:735888 D RGD:9068941 20200609 RGD PMID:16315020|REF_RGD_ID:2315632 8720757 Amacr alpha-methylacyl-CoA racemase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17684125 8720790 Nckipsd NCK interacting protein with SH3 domain gene DOID:630 genetic disease ISO RGD:1322714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720790 Nckipsd NCK interacting protein with SH3 domain gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1322714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8720790 Nckipsd NCK interacting protein with SH3 domain gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1322714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8720813 Pros1 protein S gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1342781 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8720813 Pros1 protein S gene DOID:0060903 thrombosis ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10706858|PMID:11132655 8720813 Pros1 protein S gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:11127877|PMID:11858485|PMID:20880255|PMID:24014240|PMID:24055113|PMID:25637381|PMID:25741868|PMID:28492532|PMID:31064749 8720813 Pros1 protein S gene DOID:0111003 Joubert syndrome 8 ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 8720813 Pros1 protein S gene DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:7240710 20180130 OMIM 8720813 Pros1 protein S gene DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: PROS1-related condition | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant PMID:10447256|PMID:10456456|PMID:10669162|PMID:10706858|PMID:10790208|PMID:10811787|PMID:10887114|PMID:11127877|PMID:11858485|PMID:12960605|PMID:15147381|PMID:15175796|PMID:15238143|PMID:1547381|PMID:15712227|PMID:15978566|PMID:16100035|PMID:16199547|PMID:16461766|PMID:16961607|PMID:16961608|PMID:17157360|PMID:17576681|PMID:18322254|PMID:18435454|PMID:18841302|PMID:18954896|PMID:19826897|PMID:20811787|PMID:20880255|PMID:21172841|PMID:21285903|PMID:2143091|PMID:21486865|PMID:21764424|PMID:21764702|PMID:21811774|PMID:22261441|PMID:22273984|PMID:22627591|PMID:23813890|PMID:24014240|PMID:24033266|PMID:24055113|PMID:24119292|PMID:24162787|PMID:24233386|PMID:24365770|PMID:2526663|PMID:25272994|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26251307|PMID:26466767|PMID:26985940|PMID:27652279|PMID:27660039|PMID:27667277|PMID:27748013|PMID:27838551|PMID:28374852|PMID:28492532|PMID:28607330|PMID:29225857|PMID:29321366|PMID:29748776|PMID:29883906|PMID:30349894|PMID:30669159|PMID:31064749|PMID:34355501|PMID:7545463|PMID:7579448|PMID:7579449|PMID:7803790|PMID:8113388|PMID:8298131|PMID:8765219|PMID:8781426|PMID:8943854|PMID:9241758|PMID:9536098|PMID:9651142|PMID:9657428 8720813 Pros1 protein S gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11703344 8720813 Pros1 protein S gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:7240710 20180130 OMIM 8720813 Pros1 protein S gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1342781 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:10063989|PMID:10456456|PMID:10613646|PMID:10613647|PMID:10669162|PMID:10706858|PMID:10790208|PMID:10811787|PMID:10887114|PMID:11127877|PMID:11776305|PMID:11858485|PMID:12351389|PMID:12960605|PMID:15147381|PMID:15175796|PMID:15238143|PMID:1547381|PMID:15712227|PMID:15712777|PMID:15978566|PMID:16100035|PMID:16199547|PMID:16363235|PMID:16461766|PMID:16953283|PMID:16961607|PMID:16961608|PMID:17157360|PMID:17576681|PMID:18242167|PMID:18322254|PMID:18435454|PMID:18841302|PMID:18954896|PMID:19826897|PMID:20181378|PMID:20421270|PMID:20484936|PMID:20811787|PMID:20880255|PMID:21172841|PMID:21285903|PMID:2143091|PMID:21486865|PMID:21764424|PMID:21764702|PMID:21811774|PMID:22166512|PMID:22261441|PMID:22273984|PMID:22290026|PMID:2231208|PMID:22627591|PMID:22627709|PMID:22951146|PMID:23813890|PMID:24014240|PMID:24033266|PMID:24055113|PMID:24119292|PMID:24162787|PMID:24233386|PMID:24365770|PMID:2521801|PMID:2526663|PMID:25272994|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26046366|PMID:26251307|PMID:26466767|PMID:26985940|PMID:27652279|PMID:27660039|PMID:27667277|PMID:27748013|PMID:27838551|PMID:28088608|PMID:28174134|PMID:28374852|PMID:28492532|PMID:28607330|PMID:29225857|PMID:29321366|PMID:29748776|PMID:29883906|PMID:30349894|PMID:30543986|PMID:30669159|PMID:31064749|PMID:31068512|PMID:31422373|PMID:32964666|PMID:34355501|PMID:34533296|PMID:7545463|PMID:7579448|PMID:7579449|PMID:7803790|PMID:7974339|PMID:8298131|PMID:8616098|PMID:8639833|PMID:8765219|PMID:8781426|PMID:8841302|PMID:8943854|PMID:9031442|PMID:9031443|PMID:9241758|PMID:9536098|PMID:9651142 8720813 Pros1 protein S gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8720813 Pros1 protein S gene DOID:1247 blood coagulation disease ISO RGD:1550610 D RGD:9068941 20200609 RGD PMID:19729839|REF_RGD_ID:11250417 8720813 Pros1 protein S gene DOID:178 vascular disease ISO RGD:1550610 D RGD:9068941 20200609 RGD PMID:19729839|REF_RGD_ID:11250417 8720813 Pros1 protein S gene DOID:2213 hemorrhagic disease ISO RGD:1342781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:20880255|PMID:25741868|PMID:28492532|PMID:31064749|PMID:8943854|PMID:9651142 8720813 Pros1 protein S gene DOID:2451 protein S deficiency ISO RGD:1342781 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:10447256|PMID:10706858|PMID:10790208|PMID:11127877|PMID:11858485|PMID:12351389|PMID:15712227|PMID:17576681|PMID:18322254|PMID:20880255|PMID:22166512|PMID:22261441|PMID:22951146|PMID:23813890|PMID:24014240|PMID:24055113|PMID:25272994|PMID:25637381|PMID:25741868|PMID:26466767|PMID:27652279|PMID:28492532|PMID:29321366|PMID:29748776|PMID:30543986|PMID:30669159|PMID:31064749|PMID:32581362|PMID:32964666|PMID:34355501|PMID:7579449|PMID:7803790|PMID:8943854|PMID:9031443|PMID:9241758|PMID:9536098 8720813 Pros1 protein S gene DOID:2451 protein S deficiency no_association ISO RGD:1342781 D RGD:9068941 20200609 RGD DNA:SNPs: : c.1016T>A, c.1138A>C (human) PMID:22261441|REF_RGD_ID:11250419 8720813 Pros1 protein S gene DOID:3526 cerebral infarction ISO RGD:1342781 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R355C (1063C>T) (human) PMID:21172841|REF_RGD_ID:11250416 8720813 Pros1 protein S gene DOID:3576 sagittal sinus thrombosis ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18382986 8720813 Pros1 protein S gene DOID:630 genetic disease ISO RGD:1342781 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077735|PMID:20880255|PMID:25741868|PMID:28492532 8720813 Pros1 protein S gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8720813 Pros1 protein S gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620971 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, plasma PMID:16995903|REF_RGD_ID:2300011 8720813 Pros1 protein S gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342781 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus PMID:29511111|REF_RGD_ID:13515131 8720813 Pros1 protein S gene DOID:9002165 Diabetic Nephropathies ISO RGD:620971 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental;mRNA, protein:increased expression:kidney, glomerulus PMID:29511111|REF_RGD_ID:13515131 8720813 Pros1 protein S gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:1550610 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental PMID:29511111|REF_RGD_ID:13515131 8720813 Pros1 protein S gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1342781 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental PMID:29511111|REF_RGD_ID:13515131 8720813 Pros1 protein S gene DOID:9003121 Thromboembolism ISO RGD:1342781 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:25741868|PMID:28492532|PMID:31064749 8720813 Pros1 protein S gene DOID:9003505 Venous Thromboembolism ISO RGD:1342781 D RGD:9068941 20200609 RGD PMID:11434940|PMID:26466767|REF_RGD_ID:11099984|REF_RGD_ID:11251678 8720813 Pros1 protein S gene DOID:9003871 Venous Thrombosis ISO RGD:1342781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:12351389|PMID:20880255|PMID:22261441|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32964666|PMID:7803790 8720833 Armcx3 armadillo repeat containing X-linked 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8720833 Armcx3 armadillo repeat containing X-linked 3 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1604814 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8720833 Armcx3 armadillo repeat containing X-linked 3 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1604814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8720833 Armcx3 armadillo repeat containing X-linked 3 gene DOID:12849 autistic disorder ISO RGD:1604814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8720833 Armcx3 armadillo repeat containing X-linked 3 gene DOID:630 genetic disease ISO RGD:1604814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720848 Cdca3 cell division cycle associated 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8720848 Cdca3 cell division cycle associated 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8720848 Cdca3 cell division cycle associated 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8720848 Cdca3 cell division cycle associated 3 gene DOID:0080600 COVID-19 ISO RGD:1345166 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8720848 Cdca3 cell division cycle associated 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8720848 Cdca3 cell division cycle associated 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1H PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:27063057|PMID:28492532|PMID:9425898 8720848 Cdca3 cell division cycle associated 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8720848 Cdca3 cell division cycle associated 3 gene DOID:10825 essential hypertension ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:28492532|PMID:9425898 8720848 Cdca3 cell division cycle associated 3 gene DOID:630 genetic disease ISO RGD:1345166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8720848 Cdca3 cell division cycle associated 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8720848 Cdca3 cell division cycle associated 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0111934 immunodeficiency 38 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:0111935 immunodeficiency 16 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:10608 celiac disease ISO RGD:1320832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:2349 arteriosclerosis ISO RGD:1320832 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery, atherosclerotic lesions (human) PMID:11742877|REF_RGD_ID:2317295 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:5844 myocardial infarction ISO RGD:1310115 D RGD:9068941 20200609 RGD protein:increased expression:heart, cardiomyocyte, endothelial cell (rat) PMID:18353719|REF_RGD_ID:2317281 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:630 genetic disease ISO RGD:1320832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:7148 rheumatoid arthritis ISO RGD:1320832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:9000998 Brain Injuries ISO RGD:1320832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1320832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8720862 Tnfrsf14 TNF receptor superfamily member 14 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1320832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:22871920|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30561787|PMID:31374812|PMID:31831025|PMID:32056211|PMID:32214227|PMID:9398847|PMID:9398848|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346322 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum disease | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:31319225|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1346322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9398847|PMID:9398848|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1346322 D RGD:7240710 20190306 OMIM 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1346322 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31742715|PMID:31831025|PMID:31964843|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:33083013|PMID:33708531|PMID:33955040|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1346322 D RGD:7240710 20180130 OMIM 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1346322 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31628608|PMID:31742715|PMID:31831025|PMID:31964843|PMID:32203225|PMID:32483926|PMID:33083013|PMID:33708531|PMID:33955040|PMID:33955814|PMID:34448047|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0080918 polymicrogyria ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:28492532 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1346322 D RGD:7240710 20221005 OMIM 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1346322 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28446956|PMID:28468868|PMID:28492532|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:33708531|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:10907 microcephaly ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:30362618|PMID:31374812|PMID:9398847|PMID:9398848 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:1826 epilepsy ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:19105186|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27302843|PMID:27872819|PMID:27882258|PMID:28397838|PMID:28454995|PMID:28468868|PMID:28492532|PMID:30362618|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:33708531|PMID:34513757|PMID:9398847|PMID:9398848 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:8501 fundus dystrophy ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:23757202|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28468868|PMID:28492532|PMID:30362618|PMID:31374812|PMID:31831025|PMID:9398847|PMID:9398848 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1346322 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31742715|PMID:31831025|PMID:31964843|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:33083013|PMID:33708531|PMID:33955040|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1346322 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28857144|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31319225|PMID:31374812|PMID:31628608|PMID:31742715|PMID:31831025|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:32866347|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33726816|PMID:33955814|PMID:34513757|PMID:34744965|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1346322 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10384394|PMID:10447258|PMID:10480353|PMID:11389485|PMID:11439091|PMID:12032265|PMID:12402331|PMID:1301993|PMID:15098231|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:19877282|PMID:20301621|PMID:2063923|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:21862673|PMID:22871920|PMID:2324705|PMID:23247051|PMID:23757202|PMID:24033266|PMID:24503136|PMID:25133751|PMID:25326635|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26319495|PMID:26387595|PMID:26467025|PMID:26594346|PMID:26643206|PMID:27090541|PMID:27124789|PMID:27231023|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:27872819|PMID:27882258|PMID:28432012|PMID:28446956|PMID:28454995|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28857144|PMID:29261186|PMID:29419819|PMID:30362618|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31319225|PMID:31374812|PMID:31628608|PMID:31742715|PMID:31831025|PMID:31964843|PMID:32056211|PMID:32203225|PMID:32214227|PMID:32483926|PMID:32596134|PMID:32866347|PMID:33083013|PMID:33240318|PMID:33708531|PMID:33726816|PMID:33955040|PMID:33955814|PMID:34448047|PMID:34513757|PMID:34744965|PMID:34974531|PMID:9398847|PMID:9398848|PMID:9536098|PMID:9539740 8720878 Pex1 peroxisomal biogenesis factor 1 gene DOID:906 peroxisomal disease ISO RGD:1346322 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Peroxisomal disorder PMID:10384394|PMID:10447258|PMID:11389485|PMID:12402331|PMID:15098231|PMID:16141001|PMID:17055079|PMID:19105186|PMID:20301621|PMID:21031596|PMID:21846392|PMID:21862673|PMID:22871920|PMID:24503136|PMID:25412400|PMID:25741868|PMID:26219880|PMID:26287655|PMID:26467025|PMID:26643206|PMID:27090541|PMID:27872819|PMID:27882258|PMID:28492532|PMID:30362618|PMID:31374812|PMID:9398847|PMID:9398848 8720912 Tnc tenascin C gene DOID:0080322 polycystic kidney disease ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15565633|REF_RGD_ID:4889614 8720912 Tnc tenascin C gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1354144 D RGD:7240710 20180130 OMIM 8720912 Tnc tenascin C gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1354144 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition PMID:21681106|PMID:23936043|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29531218|PMID:30311386|PMID:31190668 8720912 Tnc tenascin C gene DOID:10003 sensorineural hearing loss ISO RGD:1354144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:25741868 8720912 Tnc tenascin C gene DOID:10320 asbestosis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:pleura PMID:10950882|REF_RGD_ID:4889594 8720912 Tnc tenascin C gene DOID:106 pleural tuberculosis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:pleura PMID:10950882|REF_RGD_ID:4889594 8720912 Tnc tenascin C gene DOID:11204 allergic conjunctivitis ISO RGD:1354144 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18305139|REF_RGD_ID:4889589 8720912 Tnc tenascin C gene DOID:11830 myopia ISO RGD:1354144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 8720912 Tnc tenascin C gene DOID:13100 intracranial vasospasm ISO RGD:1354144 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage;protein:increased expression:serum PMID:19589197|REF_RGD_ID:4889600 8720912 Tnc tenascin C gene DOID:1324 lung cancer ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16928692|REF_RGD_ID:4889612 8720912 Tnc tenascin C gene DOID:13406 pulmonary sarcoidosis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:9780295|REF_RGD_ID:4889595 8720912 Tnc tenascin C gene DOID:1532 pleural disease ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10950882 8720912 Tnc tenascin C gene DOID:1909 melanoma ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 8720912 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115819 8720912 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.L1677I (human) PMID:16115819|REF_RGD_ID:4889569 8720912 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18305139|REF_RGD_ID:4889589 8720912 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:bronchus basement membrane PMID:9310019|REF_RGD_ID:4889572 8720912 Tnc tenascin C gene DOID:2841 asthma ISO RGD:1615156 D RGD:9068941 20200609 RGD PMID:17125141|REF_RGD_ID:4889565 8720912 Tnc tenascin C gene DOID:289 endometriosis ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8720912 Tnc tenascin C gene DOID:3068 glioblastoma ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:16928692|REF_RGD_ID:4889612 8720912 Tnc tenascin C gene DOID:3070 high grade glioma ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16928692|REF_RGD_ID:4889612 8720912 Tnc tenascin C gene DOID:3798 pleural empyema ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:pleura PMID:10950882|REF_RGD_ID:4889594 8720912 Tnc tenascin C gene DOID:4947 cholangiocarcinoma severity ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:20816680|REF_RGD_ID:4889598 8720912 Tnc tenascin C gene DOID:552 pneumonia ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:serum, respiratory system fluid/secretion PMID:19721293|REF_RGD_ID:4889573 8720912 Tnc tenascin C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8720912 Tnc tenascin C gene DOID:5844 myocardial infarction ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:11454990|REF_RGD_ID:4889618 8720912 Tnc tenascin C gene DOID:630 genetic disease ISO RGD:1354144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30311386 8720912 Tnc tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:16782755|REF_RGD_ID:4889567 8720912 Tnc tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20528622|REF_RGD_ID:4889562 8720912 Tnc tenascin C gene DOID:6432 pulmonary hypertension ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:15879421|REF_RGD_ID:4889570 8720912 Tnc tenascin C gene DOID:6432 pulmonary hypertension severity ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:19288153|REF_RGD_ID:4889564 8720912 Tnc tenascin C gene DOID:799 varicose veins ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 8720912 Tnc tenascin C gene DOID:841 extrinsic allergic alveolitis ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:9780295|REF_RGD_ID:4889595 8720912 Tnc tenascin C gene DOID:850 lung disease ISO RGD:10271 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:16690978|REF_RGD_ID:4889568 8720912 Tnc tenascin C gene DOID:850 lung disease ISO RGD:1615156 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20833777|REF_RGD_ID:4889561 8720912 Tnc tenascin C gene DOID:9000039 Spinal Cord Injuries ISO RGD:621057 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:11085900|REF_RGD_ID:4889619 8720912 Tnc tenascin C gene DOID:9000310 Lung Injury ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978301 8720912 Tnc tenascin C gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621057 D RGD:9068941 20200609 RGD protein:increased expression:basilar artery PMID:19589197|REF_RGD_ID:4889600 8720912 Tnc tenascin C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354144 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:lung PMID:16928692|REF_RGD_ID:4889612 8720912 Tnc tenascin C gene DOID:9001472 Nasal Polyps ISO RGD:1354144 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:12916355|REF_RGD_ID:4889591 8720912 Tnc tenascin C gene DOID:9003566 Mesothelioma ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:16928692|REF_RGD_ID:4889612 8720912 Tnc tenascin C gene DOID:9003566 Mesothelioma disease_progression ISO RGD:1354144 D RGD:9068941 20200609 RGD PMID:12605648|REF_RGD_ID:4889571 8720912 Tnc tenascin C gene DOID:9004538 Hearing Loss ISO RGD:1354144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8720912 Tnc tenascin C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:17999372|REF_RGD_ID:4889609 8720912 Tnc tenascin C gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1354144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8720912 Tnc tenascin C gene DOID:9007480 Hyperoxia ISO RGD:1615156 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17001473|REF_RGD_ID:4889566 8720912 Tnc tenascin C gene DOID:9007736 Vertigo ISO RGD:1354144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vertigo PMID:25741868 8720912 Tnc tenascin C gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621057 D RGD:9068941 20200609 RGD PMID:20554738|REF_RGD_ID:4889599 8720946 Swt1 SWT1 RNA endoribonuclease homolog gene DOID:11372 megacolon ISO RGD:1318617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8720946 Swt1 SWT1 RNA endoribonuclease homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1318617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8720946 Swt1 SWT1 RNA endoribonuclease homolog gene DOID:630 genetic disease ISO RGD:1318617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720946 Swt1 SWT1 RNA endoribonuclease homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:0111546 Currarino syndrome ISO RGD:1606569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1606569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:1606569 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1606569 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:17463246|PMID:17463248|PMID:17463249 8720991 Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1606569 D RGD:7240710 20230505 OMIM 8721023 LOC102009464 chromosome unknown open reading frame, human C5orf15 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8721023 LOC102009464 chromosome unknown open reading frame, human C5orf15 gene DOID:630 genetic disease ISO RGD:1321206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721023 LOC102009464 chromosome unknown open reading frame, human C5orf15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8721023 LOC102009464 chromosome unknown open reading frame, human C5orf15 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8721051 Tnpo1 transportin 1 gene DOID:630 genetic disease ISO RGD:1318103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721051 Tnpo1 transportin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8721098 Pla2g4c phospholipase A2 group IVC gene DOID:630 genetic disease ISO RGD:1348684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721124 Dnm2 dynamin 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:730970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT PMID:16227997|PMID:18414213|PMID:20529869|PMID:20858595|PMID:22096584|PMID:22369075|PMID:22396310|PMID:24088041|PMID:25741868|PMID:26633545|PMID:2734399|PMID:27343996|PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:0080307 myofibrillar myopathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy PMID:25741868|PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:730970 D RGD:7240710 20180130 OMIM 8721124 Dnm2 dynamin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:730970 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia PMID:15731758|PMID:16199547|PMID:16227997|PMID:17008356|PMID:17576681|PMID:17636067|PMID:17825552|PMID:17932957|PMID:18394888|PMID:18414213|PMID:18560793|PMID:19122038|PMID:19130742|PMID:19502294|PMID:19623537|PMID:19932619|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22091729|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:22613877|PMID:23092955|PMID:23338057|PMID:23374900|PMID:23394783|PMID:23806086|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24215330|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25025039|PMID:25214167|PMID:25259927|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25640679|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26275793|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:27328317|PMID:2734399|PMID:27343996|PMID:27549087|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28166811|PMID:28357347|PMID:28357410|PMID:28492532|PMID:28532469|PMID:28676641|PMID:28708278|PMID:28971531|PMID:29653220|PMID:30103202|PMID:30146126|PMID:30208955|PMID:30373780|PMID:32528171|PMID:32657593|PMID:32860008|PMID:33333461|PMID:33369814|PMID:33459893|PMID:34008892|PMID:34354735|PMID:34837441|PMID:35993408|PMID:9536098 8721124 Dnm2 dynamin 2 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:730970 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:16199547|PMID:16227997|PMID:17008356|PMID:17825552|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26503427|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892|PMID:34354735 8721124 Dnm2 dynamin 2 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:730970 D RGD:7240710 20180130 OMIM 8721124 Dnm2 dynamin 2 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:730970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 PMID:16227997|PMID:18414213|PMID:20529869|PMID:20858595|PMID:22096584|PMID:22369075|PMID:22396310|PMID:24088041|PMID:25741868|PMID:26633545|PMID:2734399|PMID:27343996|PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:730970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:17932957|PMID:18414213|PMID:20227276|PMID:20700106|PMID:22396310|PMID:23338057|PMID:24135484|PMID:25741868|PMID:25957634|PMID:26199319|PMID:28492532|PMID:32860008 8721124 Dnm2 dynamin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:730970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:730970 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15731758|PMID:16227997|PMID:17636067|PMID:18394888|PMID:18414213|PMID:20529869|PMID:20817456|PMID:21762456|PMID:22091729|PMID:22613877|PMID:24016602|PMID:25025039|PMID:25492887|PMID:25501959|PMID:25741868|PMID:27328317|PMID:28492532|PMID:28676641 8721124 Dnm2 dynamin 2 gene DOID:11252 microcytic anemia ISO RGD:730971 D RGD:9068941 20221117 MouseDO OMIM:206200 8721124 Dnm2 dynamin 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:14717 centronuclear myopathy ISO RGD:730970 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:16227997|PMID:17008356|PMID:17825552|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19932620|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:28492532|PMID:28676641|PMID:32860008 8721124 Dnm2 dynamin 2 gene DOID:2975 cystic kidney disease ISO RGD:730971 D RGD:9068941 20220825 MouseDO 8721124 Dnm2 dynamin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:730970 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:16227997|PMID:17008356|PMID:17932957|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892 8721124 Dnm2 dynamin 2 gene DOID:422 congenital structural myopathy ISO RGD:730970 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:16199547|PMID:16227997|PMID:17008356|PMID:17825552|PMID:17932957|PMID:18414213|PMID:19130742|PMID:19623537|PMID:19932619|PMID:20227276|PMID:20529869|PMID:20700106|PMID:20817456|PMID:20858595|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23374900|PMID:23394783|PMID:24016602|PMID:24033266|PMID:24088041|PMID:24135484|PMID:24366529|PMID:24465259|PMID:24728327|PMID:25214167|PMID:25262827|PMID:25326635|PMID:25492887|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:26467025|PMID:26503427|PMID:26633545|PMID:26842864|PMID:26908122|PMID:2734399|PMID:27343996|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28676641|PMID:30103202|PMID:32860008|PMID:34008892|PMID:34354735 8721124 Dnm2 dynamin 2 gene DOID:423 myopathy ISO RGD:730970 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Myopathy PMID:16227997|PMID:17008356|PMID:17825552|PMID:18414213|PMID:19130742|PMID:20227276|PMID:20529869|PMID:20927630|PMID:21221624|PMID:21762456|PMID:22396310|PMID:22613877|PMID:23338057|PMID:23394783|PMID:24465259|PMID:25262827|PMID:25501959|PMID:25741868|PMID:25957634|PMID:26199319|PMID:26273216|PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:574 peripheral nervous system disease ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18414213|PMID:24728327|PMID:26467025|PMID:27854218|PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:630 genetic disease ISO RGD:730970 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:17636067|PMID:18414213|PMID:22730194|PMID:24215330|PMID:24728327|PMID:25214167|PMID:25501959|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26517984|PMID:27572814|PMID:27698851|PMID:27854218|PMID:28492532|PMID:28532469|PMID:28708278|PMID:30103202|PMID:30146126|PMID:30373780|PMID:32657593|PMID:33333461|PMID:33369814|PMID:35993408|PMID:9536098 8721124 Dnm2 dynamin 2 gene DOID:870 neuropathy ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18414213|PMID:24728327|PMID:26467025|PMID:27854218|PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:9004426 Lethal Congenital Contracture Syndrome 5 ISO RGD:730970 D RGD:7240710 20180130 OMIM 8721124 Dnm2 dynamin 2 gene DOID:9004426 Lethal Congenital Contracture Syndrome 5 ISO RGD:730970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5 PMID:23092955|PMID:25741868 8721124 Dnm2 dynamin 2 gene DOID:9008014 Charcot-Marie-Tooth Disease, Dominant Intermediate 1 ISO RGD:730970 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 1 PMID:16227997|PMID:17636067|PMID:18414213|PMID:18560793|PMID:19502294|PMID:20529869|PMID:20858595|PMID:22096584|PMID:22369075|PMID:22396310|PMID:22451505|PMID:23092955|PMID:23806086|PMID:24088041|PMID:25259927|PMID:25741868|PMID:26467025|PMID:26633545|PMID:2734399|PMID:27343996|PMID:28357347|PMID:28492532 8721124 Dnm2 dynamin 2 gene DOID:9277 primary cerebellar degeneration ISO RGD:730970 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:17636067|PMID:25741868|PMID:28492532|PMID:30373780|PMID:35993408 8721176 Mansc1 MANSC domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1353615 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8721176 Mansc1 MANSC domain containing 1 gene DOID:630 genetic disease ISO RGD:1353615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721183 Phldb3 pleckstrin homology like domain family B member 3 gene DOID:5419 schizophrenia ISO RGD:1345533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8721183 Phldb3 pleckstrin homology like domain family B member 3 gene DOID:630 genetic disease ISO RGD:1345533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721203 Itgb7 integrin subunit beta 7 gene DOID:630 genetic disease ISO RGD:1343409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721223 Smagp small cell adhesion glycoprotein gene DOID:630 genetic disease ISO RGD:1607014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721235 Mtrex Mtr4 exosome RNA helicase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1606819 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood lymphocyte (human) PMID:23006766|REF_RGD_ID:11041891 8721235 Mtrex Mtr4 exosome RNA helicase gene DOID:630 genetic disease ISO RGD:1606819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721235 Mtrex Mtr4 exosome RNA helicase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8721235 Mtrex Mtr4 exosome RNA helicase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:0080599 Coronavirus infectious disease ISO RGD:737491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30626688 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10481 D RGD:9068941 20220825 MouseDO 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:737491 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome severity ISO RGD:737491 D RGD:9068941 20200618 RGD PMID:31838832|REF_RGD_ID:30309204 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:737491 D RGD:9068941 20200626 RGD human gene in mouse model PMID:30256968|REF_RGD_ID:30309959 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:12849 autistic disorder ISO RGD:737491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737491 D RGD:9068941 20220526 RGD protein:increased expression: esophagus PMID:24789592|REF_RGD_ID:152600903 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:576 proteinuria ISO RGD:737491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2880436 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:630 genetic disease ISO RGD:737491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10481 D RGD:9068941 20200609 RGD PMID:19765579|REF_RGD_ID:2313699 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737491 D RGD:9068941 20200609 RGD PMID:19705345|REF_RGD_ID:2313700 8721273 Dpp4 dipeptidyl peptidase 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10481 D RGD:9068941 20200609 RGD PMID:19073764|REF_RGD_ID:2313702 8721316 Hmgn1 high mobility group nucleosome binding domain 1 gene DOID:12849 autistic disorder ISO RGD:1317138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8721316 Hmgn1 high mobility group nucleosome binding domain 1 gene DOID:630 genetic disease ISO RGD:1317138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721316 Hmgn1 high mobility group nucleosome binding domain 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1317138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747640 8721324 Upk2 uroplakin 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8721324 Upk2 uroplakin 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1353269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8721324 Upk2 uroplakin 2 gene DOID:0080690 RASopathy ISO RGD:1353269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8721324 Upk2 uroplakin 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8721324 Upk2 uroplakin 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8721324 Upk2 uroplakin 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8721324 Upk2 uroplakin 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8721324 Upk2 uroplakin 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8721324 Upk2 uroplakin 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1353269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8721324 Upk2 uroplakin 2 gene DOID:630 genetic disease ISO RGD:1353269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721324 Upk2 uroplakin 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8721324 Upk2 uroplakin 2 gene DOID:9007661 Dwarfism ISO RGD:1353269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8721335 Actl8 actin like 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602092 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8721335 Actl8 actin like 8 gene DOID:630 genetic disease ISO RGD:1602092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1351390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112069 nuclear type mitochondrial complex I deficiency 22 ISO RGD:1351390 D RGD:7240710 20190315 OMIM 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112069 nuclear type mitochondrial complex I deficiency 22 ISO RGD:1351390 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 PMID:21150889|PMID:22972949|PMID:25741868|PMID:28247337|PMID:28492532|PMID:33233646|PMID:34827632|PMID:34828274 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:1059 intellectual disability ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:3652 Leigh disease ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:5419 schizophrenia ISO RGD:1351390 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:630 genetic disease ISO RGD:1351390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1351390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 8721345 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1351390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8721359 Pcm1 pericentriolar material 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1349730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8721359 Pcm1 pericentriolar material 1 gene DOID:5419 schizophrenia ISO RGD:1349730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19048012 8721359 Pcm1 pericentriolar material 1 gene DOID:630 genetic disease ISO RGD:1349730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721359 Pcm1 pericentriolar material 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1349730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:10980597|PMID:25741868 8721420 Sec14l3 SEC14 like lipid binding 3 gene DOID:630 genetic disease ISO RGD:1346355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721481 Stac2 SH3 and cysteine rich domain 2 gene DOID:630 genetic disease ISO RGD:1313639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721481 Stac2 SH3 and cysteine rich domain 2 gene DOID:9002189 High Myopia ISO RGD:1313639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8721481 Stac2 SH3 and cysteine rich domain 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1313639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0050902 medulloblastoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0060040 pervasive developmental disorder ISO RGD:1347453 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pervasive developmental disorder PMID:25741868|PMID:28135719|PMID:35395208 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0070420 developmental delay, hypotonia, and impaired language ISO RGD:1347453 D RGD:7240710 20221109 OMIM 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0070420 developmental delay, hypotonia, and impaired language ISO RGD:1347453 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition PMID:25741868|PMID:28135719|PMID:35395208 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:1107 esophageal carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:1909 melanoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:2513 basal cell carcinoma ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:2671 transitional cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3068 glioblastoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3070 high grade glioma ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18931460 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:363 uterine cancer ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3717 gastric adenocarcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:3910 lung adenocarcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:24394663 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:6171 uterine carcinosarcoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:630 genetic disease ISO RGD:1347453 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:8923 skin melanoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9002981 Genomic Instability ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17588203 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347453 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1347453 D RGD:9068941 20200609 RGD associated with colorectal cancer; PMID:28846828|REF_RGD_ID:21408566 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1347453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25741868|PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast tumor PMID:26619011 8721499 Fbxw7 F-box and WD repeat domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:1347453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:10390 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:2396 D RGD:9068941 20230914 RGD PMID:28458350|REF_RGD_ID:401799674 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0090129 carnitine palmitoyltransferase I deficiency ISO RGD:735945 D RGD:7240710 20180130 OMIM 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:0090129 carnitine palmitoyltransferase I deficiency ISO RGD:735945 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency PMID:11350182|PMID:11350183|PMID:11441142|PMID:12111367|PMID:12189492|PMID:12351641|PMID:14517221|PMID:15110323|PMID:16146704|PMID:16169268|PMID:16199547|PMID:16958601|PMID:17576681|PMID:19181627|PMID:19217814|PMID:19345525|PMID:20301700|PMID:20696606|PMID:21253826|PMID:21763168|PMID:21962599|PMID:23090344|PMID:23430491|PMID:23700290|PMID:24033266|PMID:24847810|PMID:25449608|PMID:25640679|PMID:25741868|PMID:26010953|PMID:26820065|PMID:27066452|PMID:27341449|PMID:28125087|PMID:28468868|PMID:28492532|PMID:29519241|PMID:30101502|PMID:31319225|PMID:32088118|PMID:32561900|PMID:32781271|PMID:33845545|PMID:34131458|PMID:34869124|PMID:35360862|PMID:9048718|PMID:9536098|PMID:9691089 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:1059 intellectual disability ISO RGD:735945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:12351 alcoholic hepatitis treatment ISO RGD:2396 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:1936 atherosclerosis treatment ISO RGD:10390 D RGD:9068941 20231019 RGD PMID:23650230|REF_RGD_ID:401842363 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:3146 lipid metabolism disorder ISO RGD:735945 D RGD:9068941 20200609 RGD CPT IA deficiency, OMIM:255120, D454G PMID:9691089|REF_RGD_ID:1600732 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735945 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:630 genetic disease ISO RGD:735945 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16169268|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:783 end stage renal disease ISO RGD:2396 D RGD:9068941 20230914 RGD protein:decreased expression:kidney (rat) PMID:19878707|REF_RGD_ID:2326081 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:783 end stage renal disease ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9002371 Cardiotoxicity ISO RGD:2396 D RGD:9068941 20230713 RGD mRNA, protein:decreased expression:heart (rat) PMID:30644033|REF_RGD_ID:329955369 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9002669 Hypoxia treatment ISO RGD:2396 D RGD:9068941 20230720 RGD mRNA:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9003139 Cardiac Fibrosis ISO RGD:2396 D RGD:9068941 20230713 RGD mRNA, protein:decreased expression:heart (rat) PMID:30644033|REF_RGD_ID:329955369 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:735945 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9004017 Chronic Hepatitis C ISO RGD:735945 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver hepatocytes PMID:15685545|REF_RGD_ID:5683635 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2396 D RGD:9068941 20230831 RGD mRNA:decreased expression:liver (rat) PMID:28959666|REF_RGD_ID:401794432 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:735945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9008939 Breast Neoplasms ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9351 diabetes mellitus ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233164 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:2396 D RGD:9068941 20200609 RGD PMID:19553925|REF_RGD_ID:2311344 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:735945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9970 obesity ISO RGD:2396 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:16751799|REF_RGD_ID:2311345 8721541 Cpt1a carnitine palmitoyltransferase 1A gene DOID:9970 obesity treatment ISO RGD:2396 D RGD:9068941 20230720 RGD mRNA:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8721567 Chpf chondroitin polymerizing factor gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8721567 Chpf chondroitin polymerizing factor gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8721567 Chpf chondroitin polymerizing factor gene DOID:1148 polydactyly ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8721567 Chpf chondroitin polymerizing factor gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8721567 Chpf chondroitin polymerizing factor gene DOID:630 genetic disease ISO RGD:1603198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721567 Chpf chondroitin polymerizing factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8721581 Ptov1 PTOV1 extended AT-hook containing adaptor protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1315896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8721581 Ptov1 PTOV1 extended AT-hook containing adaptor protein gene DOID:2843 long QT syndrome ISO RGD:1315896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8721581 Ptov1 PTOV1 extended AT-hook containing adaptor protein gene DOID:630 genetic disease ISO RGD:1315896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721581 Ptov1 PTOV1 extended AT-hook containing adaptor protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1315896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8721581 Ptov1 PTOV1 extended AT-hook containing adaptor protein gene DOID:9000918 Disease Progression ISO RGD:1315896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8721618 Rce1 Ras converting CAAX endopeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1319506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8721618 Rce1 Ras converting CAAX endopeptidase 1 gene DOID:630 genetic disease ISO RGD:1319506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721618 Rce1 Ras converting CAAX endopeptidase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319506 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8721618 Rce1 Ras converting CAAX endopeptidase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8721634 Selenom selenoprotein M gene DOID:630 genetic disease ISO RGD:1603181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721634 Selenom selenoprotein M gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8721643 Rgs6 regulator of G protein signaling 6 gene DOID:630 genetic disease ISO RGD:736970 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735567 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:630 genetic disease ISO RGD:735567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721672 Ap2a2 adaptor related protein complex 2 subunit alpha 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8721708 Znf326 zinc finger protein 326 gene DOID:630 genetic disease ISO RGD:1601703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721724 Grap GRB2 related adaptor protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1353606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8721724 Grap GRB2 related adaptor protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1353606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8721724 Grap GRB2 related adaptor protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1353606 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8721724 Grap GRB2 related adaptor protein gene DOID:0111642 autosomal recessive nonsyndromic deafness 114 ISO RGD:1353606 D RGD:7240710 20190626 OMIM 8721724 Grap GRB2 related adaptor protein gene DOID:0111642 autosomal recessive nonsyndromic deafness 114 ISO RGD:1353606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 114 PMID:25741868|PMID:30610177 8721724 Grap GRB2 related adaptor protein gene DOID:12849 autistic disorder ISO RGD:1353606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8721724 Grap GRB2 related adaptor protein gene DOID:630 genetic disease ISO RGD:1353606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721724 Grap GRB2 related adaptor protein gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1353606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319779 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:20818383|PMID:25741868|PMID:26764160|PMID:28492532|PMID:30094188|PMID:33233646|PMID:35551192 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1319779 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:20818383|PMID:24595071|PMID:25741868|PMID:26764160|PMID:28492532|PMID:30094188|PMID:33233646|PMID:35551192 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112083 nuclear type mitochondrial complex I deficiency 2 ISO RGD:1319779 D RGD:7240710 20190315 OMIM 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:0112083 nuclear type mitochondrial complex I deficiency 2 ISO RGD:1319779 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 PMID:15159508|PMID:20818383|PMID:22499348|PMID:23430795|PMID:25741868|PMID:26764160|PMID:28492532|PMID:30094188|PMID:32445240|PMID:33233646|PMID:34052969|PMID:35551192|PMID:9837812 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:1059 intellectual disability ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:13533 osteopetrosis ISO RGD:1319779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:3652 Leigh disease ISO RGD:1319779 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:20818383|PMID:24595071|PMID:25326637|PMID:25741868|PMID:26764160|PMID:28492532|PMID:30094188|PMID:33233646|PMID:35551192|PMID:9837812 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:630 genetic disease ISO RGD:1319779 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20818383|PMID:23430795|PMID:25741868|PMID:26764160|PMID:28492532|PMID:30094188|PMID:32445240|PMID:33233646|PMID:35551192 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:8398 osteoarthritis ISO RGD:1319779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1319779 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:20818383|PMID:25741868|PMID:26764160|PMID:28492532|PMID:30094188|PMID:33233646|PMID:35551192|PMID:9837812 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319779 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8721742 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8721753 Fam110b family with sequence similarity 110 member B gene DOID:630 genetic disease ISO RGD:1605314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721772 Mb21d2 Mab-21 domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1601820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8721772 Mb21d2 Mab-21 domain containing 2 gene DOID:630 genetic disease ISO RGD:1601820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721787 Cmya5 cardiomyopathy associated 5 gene DOID:630 genetic disease ISO RGD:1321357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721787 Cmya5 cardiomyopathy associated 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8721822 Trim11 tripartite motif containing 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1313482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8721822 Trim11 tripartite motif containing 11 gene DOID:630 genetic disease ISO RGD:1313482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721822 Trim11 tripartite motif containing 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8721834 Galk1 galactokinase 1 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:1313365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11328943|PMID:11886501|PMID:12485428|PMID:18955862|PMID:20301304|PMID:23496044|PMID:25741868|PMID:28492532|PMID:9792864|PMID:9892956 8721834 Galk1 galactokinase 1 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:1313365 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11328943|PMID:11886501|PMID:12485428|PMID:16199547|PMID:16473856|PMID:17576681|PMID:18955862|PMID:20301304|PMID:22674212|PMID:23496044|PMID:25741868|PMID:28492532|PMID:33274474|PMID:9536098|PMID:9792864|PMID:9892956 8721834 Galk1 galactokinase 1 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1313365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:25741868|PMID:28492532 8721834 Galk1 galactokinase 1 gene DOID:0080600 COVID-19 ISO RGD:1313365 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8721834 Galk1 galactokinase 1 gene DOID:14695 galactokinase deficiency ISO RGD:1313365 D RGD:7240710 20180130 OMIM 8721834 Galk1 galactokinase 1 gene DOID:14695 galactokinase deficiency ISO RGD:1313365 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deficiency of galactokinase | ClinVar Annotator: match by term: GALK1-related condition PMID:10521295|PMID:10570908|PMID:10790206|PMID:11139256|PMID:11231902|PMID:11328943|PMID:11978883|PMID:11978884|PMID:12647253|PMID:12694189|PMID:12796487|PMID:12942049|PMID:14596685|PMID:15024738|PMID:15322984|PMID:15590630|PMID:16199547|PMID:16473856|PMID:17517531|PMID:17576681|PMID:19309526|PMID:20405025|PMID:21264483|PMID:21290184|PMID:22632133|PMID:25741868|PMID:27307692|PMID:27334249|PMID:28173647|PMID:28418495|PMID:28429145|PMID:28468868|PMID:28492532|PMID:28672748|PMID:29505688|PMID:29770612|PMID:29893426|PMID:32807972|PMID:33562227|PMID:33763395|PMID:7670469|PMID:9536098 8721834 Galk1 galactokinase 1 gene DOID:630 genetic disease ISO RGD:1313365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8721834 Galk1 galactokinase 1 gene DOID:83 cataract ISO RGD:1313365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7670469 8721834 Galk1 galactokinase 1 gene DOID:83 cataract ISO RGD:1313365 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human) PMID:7670469|REF_RGD_ID:1300192 8721834 Galk1 galactokinase 1 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1313365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:25741868|PMID:28492532 8721834 Galk1 galactokinase 1 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:1313365 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate PMID:11328943|PMID:12485428|PMID:16199547|PMID:16473856|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9546354|PMID:9892956 8721834 Galk1 galactokinase 1 gene DOID:9870 galactosemia ISO RGD:1313365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7670469 8721846 Sdcbp2 syndecan binding protein 2 gene DOID:630 genetic disease ISO RGD:1317056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1316505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8721859 Stkld1 serine/threonine kinase like domain containing 1 gene DOID:630 genetic disease ISO RGD:1316505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721913 Far2 fatty acyl-CoA reductase 2 gene DOID:10140 dry eye syndrome ISO RGD:1556953 D RGD:9068941 20221103 MouseDO 8721913 Far2 fatty acyl-CoA reductase 2 gene DOID:630 genetic disease ISO RGD:1344680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721913 Far2 fatty acyl-CoA reductase 2 gene DOID:987 alopecia ISO RGD:1556953 D RGD:9068941 20220825 MouseDO OMIM:300042 8721935 Hmbox1 homeobox containing 1 gene DOID:630 genetic disease ISO RGD:1603011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721968 Mrgprd MAS related GPR family member D gene DOID:1059 intellectual disability ISO RGD:1344076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8721968 Mrgprd MAS related GPR family member D gene DOID:12930 dilated cardiomyopathy ISO RGD:1553636 D RGD:9068941 20220825 MouseDO 8721968 Mrgprd MAS related GPR family member D gene DOID:630 genetic disease ISO RGD:1344076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721968 Mrgprd MAS related GPR family member D gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1344076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8721968 Mrgprd MAS related GPR family member D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1344076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8721971 Lgals8 galectin 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1354427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8721971 Lgals8 galectin 8 gene DOID:630 genetic disease ISO RGD:1354427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8721971 Lgals8 galectin 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8722001 Chsy1 chondroitin sulfate synthase 1 gene DOID:0050814 temtamy preaxial brachydactyly syndrome ISO RGD:1323606 D RGD:7240710 20180130 OMIM 8722001 Chsy1 chondroitin sulfate synthase 1 gene DOID:0050814 temtamy preaxial brachydactyly syndrome ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome PMID:19952732|PMID:21129727|PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9823490 8722001 Chsy1 chondroitin sulfate synthase 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8722001 Chsy1 chondroitin sulfate synthase 1 gene DOID:630 genetic disease ISO RGD:1323606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532 8722001 Chsy1 chondroitin sulfate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8722001 Chsy1 chondroitin sulfate synthase 1 gene DOID:9004538 Hearing Loss ISO RGD:1323606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 8722047 Tlx3 T cell leukemia homeobox 3 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1615148 D RGD:9068941 20220825 MouseDO OMIM:209880 8722047 Tlx3 T cell leukemia homeobox 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8722047 Tlx3 T cell leukemia homeobox 3 gene DOID:630 genetic disease ISO RGD:1353737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722054 Prpf38a pre-mRNA processing factor 38A gene DOID:630 genetic disease ISO RGD:1602851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:0060041 autism spectrum disorder ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:28492532 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1343749 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:11983 Prader-Willi syndrome ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:11983 Prader-Willi syndrome susceptibility ISO RGD:1343749 D RGD:9068941 20200609 RGD DNA:deletion PMID:8723064|REF_RGD_ID:1601354 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:12849 autistic disorder ISO RGD:1343749 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:1932 Angelman syndrome ISO RGD:1343749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:5419 schizophrenia ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:630 genetic disease ISO RGD:1343749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722068 Snrpn small nuclear ribonucleoprotein polypeptide N gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8722088 Ccdc178 coiled-coil domain containing 178 gene DOID:1059 intellectual disability ISO RGD:1317773 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8722088 Ccdc178 coiled-coil domain containing 178 gene DOID:630 genetic disease ISO RGD:1317773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722127 Proca1 protein interacting with cyclin A1 gene DOID:630 genetic disease ISO RGD:1603267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722159 Enkd1 enkurin domain containing 1 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1353138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 8722159 Enkd1 enkurin domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8722159 Enkd1 enkurin domain containing 1 gene DOID:630 genetic disease ISO RGD:1353138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722175 Rab3ip RAB3A interacting protein gene DOID:630 genetic disease ISO RGD:732155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722193 Dst dystonin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1315255 D RGD:9068941 20220825 MouseDO 8722193 Dst dystonin gene DOID:0050700 cardiomyopathy ISO RGD:1605439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 8722193 Dst dystonin gene DOID:0060041 autism spectrum disorder ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8722193 Dst dystonin gene DOID:0070151 hereditary sensory and autonomic neuropathy type 6 ISO RGD:1605439 D RGD:7240710 20180130 OMIM 8722193 Dst dystonin gene DOID:0070151 hereditary sensory and autonomic neuropathy type 6 ISO RGD:1605439 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 6 | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VI PMID:16199547|PMID:17576681|PMID:20164846|PMID:22113475|PMID:22522446|PMID:24033266|PMID:25059916|PMID:25741868|PMID:25790160|PMID:28468842|PMID:28492532|PMID:28558912|PMID:30371979|PMID:31474762|PMID:32802955|PMID:33471381|PMID:9536098 8722193 Dst dystonin gene DOID:10485 esophageal atresia ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8722193 Dst dystonin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 8722193 Dst dystonin gene DOID:12377 spinal muscular atrophy ISO RGD:1605439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:16199547|PMID:25059916|PMID:28492532 8722193 Dst dystonin gene DOID:630 genetic disease ISO RGD:1605439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:17849487|PMID:22522446|PMID:23056405|PMID:25059916|PMID:25741868|PMID:25790160|PMID:27698030|PMID:28492532|PMID:30371979|PMID:31474762|PMID:32802955|PMID:7670468|PMID:9536098 8722193 Dst dystonin gene DOID:9001248 Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency ISO RGD:1605439 D RGD:7240710 20180130 OMIM 8722193 Dst dystonin gene DOID:9001248 Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency ISO RGD:1605439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2 PMID:20164846|PMID:22113475|PMID:22522446|PMID:24033266|PMID:25059916|PMID:25741868|PMID:28492532|PMID:30371979|PMID:31474762|PMID:33471381 8722193 Dst dystonin gene DOID:9006519 Generalized Epidermolysis Bullosa Simplex 1D ISO RGD:1605439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:29211846 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:0070450 mitochondrial DNA depletion syndrome 19 ISO RGD:1350550 D RGD:7240710 20200812 OMIM 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:0070450 mitochondrial DNA depletion syndrome 19 ISO RGD:1350550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 19 PMID:25741868|PMID:29211846 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:305 carcinoma ISO RGD:1350550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:630 genetic disease ISO RGD:1350550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1350550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8722318 Slc25a10 solute carrier family 25 member 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1350550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8722343 Wdr12 WD repeat domain 12 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8722343 Wdr12 WD repeat domain 12 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8722343 Wdr12 WD repeat domain 12 gene DOID:12930 dilated cardiomyopathy ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25915632 8722343 Wdr12 WD repeat domain 12 gene DOID:14557 primary pulmonary hypertension ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8722343 Wdr12 WD repeat domain 12 gene DOID:3393 coronary artery disease ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 8722343 Wdr12 WD repeat domain 12 gene DOID:5844 myocardial infarction ISO RGD:1353160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198609|PMID:25915632 8722343 Wdr12 WD repeat domain 12 gene DOID:630 genetic disease ISO RGD:1353160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722343 Wdr12 WD repeat domain 12 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8722343 Wdr12 WD repeat domain 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8722343 Wdr12 WD repeat domain 12 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1353160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8722343 Wdr12 WD repeat domain 12 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1353160 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8722367 Lrrc74a leucine rich repeat containing 74A gene DOID:1059 intellectual disability ISO RGD:1351641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8722367 Lrrc74a leucine rich repeat containing 74A gene DOID:630 genetic disease ISO RGD:1351641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1318621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10818001|PMID:17878938 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:3146 lipid metabolism disorder ISO RGD:1318621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878938 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10775536|PMID:26937392|PMID:28492532|PMID:9392430 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:630 genetic disease ISO RGD:1318621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722402 Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8722430 Nrg1 neuregulin 1 gene DOID:0070082 schizophrenia 6 susceptibility ISO RGD:731515 D RGD:7240710 20230505 OMIM 8722430 Nrg1 neuregulin 1 gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:24152577|REF_RGD_ID:10449030 8722430 Nrg1 neuregulin 1 gene DOID:0080600 COVID-19 ISO RGD:731515 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8722430 Nrg1 neuregulin 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22974608 8722430 Nrg1 neuregulin 1 gene DOID:10595 Charcot-Marie-Tooth disease treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:25150498|REF_RGD_ID:10449027 8722430 Nrg1 neuregulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:12528817|REF_RGD_ID:10449002 8722430 Nrg1 neuregulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735609 D RGD:9068941 20200609 RGD PMID:12528817|REF_RGD_ID:10449002 8722430 Nrg1 neuregulin 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:731515 D RGD:9068941 20210212 RGD PMID:29295823|REF_RGD_ID:41404730 8722430 Nrg1 neuregulin 1 gene DOID:10808 gastric ulcer ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16357062 8722430 Nrg1 neuregulin 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:20957456|REF_RGD_ID:10449012 8722430 Nrg1 neuregulin 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8722430 Nrg1 neuregulin 1 gene DOID:11832 visual epilepsy ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:22158510|REF_RGD_ID:10449024 8722430 Nrg1 neuregulin 1 gene DOID:1307 dementia treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:21473886|REF_RGD_ID:10054040 8722430 Nrg1 neuregulin 1 gene DOID:14069 cerebral malaria ISO RGD:735609 D RGD:9068941 20201001 RGD mRNA, protein:increased expression:cerebral cortex (mouse) PMID:29636063|REF_RGD_ID:39456084 8722430 Nrg1 neuregulin 1 gene DOID:14069 cerebral malaria treatment ISO RGD:731515 D RGD:9068941 20201002 RGD human protein in a mouse model PMID:24433482|REF_RGD_ID:39456102 8722430 Nrg1 neuregulin 1 gene DOID:1470 major depressive disorder ISO RGD:731515 D RGD:9068941 20210212 RGD mRNA:increased expression:prefrontal cortex PMID:29295823|REF_RGD_ID:41404730 8722430 Nrg1 neuregulin 1 gene DOID:2394 ovarian cancer treatment ISO RGD:731515 D RGD:9068941 20201002 RGD mRNA, protein:increased expression:ovary, fallopian tube, peritoneum (human) PMID:27998236|REF_RGD_ID:39456103 8722430 Nrg1 neuregulin 1 gene DOID:2468 psychotic disorder no_association ISO RGD:731515 D RGD:9068941 20200609 RGD associated with Alzheimer Disease;DNA:missense mutation, SNP:cds, enhancer: (rs3924999, rs35753505) (human) PMID:20182055|REF_RGD_ID:10449000 8722430 Nrg1 neuregulin 1 gene DOID:2468 psychotic disorder susceptibility ISO RGD:731515 D RGD:9068941 20200609 RGD associated with Alzheimer's disease;DNA:missense mutation, haplotype:cds: (rs3924999) (human) PMID:16082692|REF_RGD_ID:10449035 8722430 Nrg1 neuregulin 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:731515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8722430 Nrg1 neuregulin 1 gene DOID:2773 contact dermatitis ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8722430 Nrg1 neuregulin 1 gene DOID:3178 skin papilloma ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:hypermethylation: PMID:31892232|REF_RGD_ID:39456089 8722430 Nrg1 neuregulin 1 gene DOID:3312 bipolar disorder ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:SNP:enhancer: (rs35753505) PMID:18585932|REF_RGD_ID:39131291 8722430 Nrg1 neuregulin 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:20691195|REF_RGD_ID:10449015 8722430 Nrg1 neuregulin 1 gene DOID:399 tuberculosis susceptibility ISO RGD:731515 D RGD:9068941 20201001 RGD DNA:SNP, haplotype: (rs16879814) PMID:25919455|REF_RGD_ID:39456091 8722430 Nrg1 neuregulin 1 gene DOID:480 movement disease ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22226049 8722430 Nrg1 neuregulin 1 gene DOID:5419 schizophrenia ISO RGD:621341 D RGD:9068941 20210423 RGD protein:increased expression:prefrontal cortex, hippocampus PMID:20467458|REF_RGD_ID:126790484 8722430 Nrg1 neuregulin 1 gene DOID:5419 schizophrenia ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145742|PMID:17333138|PMID:17460065|PMID:17905522|PMID:20561508|PMID:20582876|PMID:20701826 8722430 Nrg1 neuregulin 1 gene DOID:5419 schizophrenia ISO RGD:735609 D RGD:9068941 20220825 MouseDO OMIM:181500 8722430 Nrg1 neuregulin 1 gene DOID:571 median neuropathy ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:19296522|REF_RGD_ID:10449020 8722430 Nrg1 neuregulin 1 gene DOID:5844 myocardial infarction treatment ISO RGD:731515 D RGD:9068941 20200609 RGD PMID:24200746|REF_RGD_ID:10449026 8722430 Nrg1 neuregulin 1 gene DOID:6000 congestive heart failure ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19801490 8722430 Nrg1 neuregulin 1 gene DOID:630 genetic disease ISO RGD:731515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722430 Nrg1 neuregulin 1 gene DOID:670 amphetamine abuse ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8722430 Nrg1 neuregulin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8722430 Nrg1 neuregulin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731515 D RGD:9068941 20201002 RGD mRNA:increased expression:liver (human) PMID:27514687|REF_RGD_ID:39456110 8722430 Nrg1 neuregulin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731515 D RGD:9068941 20201002 RGD associated with hepatitis C;mRNA:altered expression:liver (human PMID:17393520|REF_RGD_ID:39456104 8722430 Nrg1 neuregulin 1 gene DOID:8469 influenza ISO RGD:735609 D RGD:9068941 20201001 RGD neurotropic influenza A in Tap1-/- strain;mRNA (type III):decreased expression:prefrontal cortex (mouse) PMID:19362585|REF_RGD_ID:39456087 8722430 Nrg1 neuregulin 1 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:731515 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 8722430 Nrg1 neuregulin 1 gene DOID:9000469 Viral Myocarditis ISO RGD:735609 D RGD:9068941 20201001 RGD associated with Coxsackievirus Infections;protein:increased expression:heart (mouse) PMID:31396490|REF_RGD_ID:39131284 8722430 Nrg1 neuregulin 1 gene DOID:9000641 Pain ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 8722430 Nrg1 neuregulin 1 gene DOID:9001131 stress-related disorder ISO RGD:621341 D RGD:9068941 20240222 RGD PMID:23022220|REF_RGD_ID:39128254 8722430 Nrg1 neuregulin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8722430 Nrg1 neuregulin 1 gene DOID:9002211 Hyperalgesia ISO RGD:621341 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22212401|REF_RGD_ID:10449019 8722430 Nrg1 neuregulin 1 gene DOID:9002371 Cardiotoxicity ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29305325 8722430 Nrg1 neuregulin 1 gene DOID:9002514 Neointima ISO RGD:621341 D RGD:9068941 20200609 RGD PMID:17438359|REF_RGD_ID:2289992 8722430 Nrg1 neuregulin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 8722430 Nrg1 neuregulin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 8722430 Nrg1 neuregulin 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:621341 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expresssion:left ventricle myocardium PMID:22285193|REF_RGD_ID:10449013 8722430 Nrg1 neuregulin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 8722430 Nrg1 neuregulin 1 gene DOID:9007956 Febrile Seizures ISO RGD:731515 D RGD:9068941 20201002 RGD associated with influenza;mRNA:increased expression:blood (human) PMID:16690933|REF_RGD_ID:39456106 8722430 Nrg1 neuregulin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 8722430 Nrg1 neuregulin 1 gene DOID:9743 diabetic neuropathy treatment ISO RGD:621341 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24288572|REF_RGD_ID:10053667 8722476 Acad11 acyl-CoA dehydrogenase family member 11 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 PMID:25741868 8722476 Acad11 acyl-CoA dehydrogenase family member 11 gene DOID:12712 nephronophthisis ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 8722476 Acad11 acyl-CoA dehydrogenase family member 11 gene DOID:630 genetic disease ISO RGD:1604580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722476 Acad11 acyl-CoA dehydrogenase family member 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8722476 Acad11 acyl-CoA dehydrogenase family member 11 gene DOID:9270 alkaptonuria ISO RGD:1604580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8722505 Cacng4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:630 genetic disease ISO RGD:735495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722505 Cacng4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628804 D RGD:9068941 20200609 RGD mRNA:decreased expression:sinoatrial node: PMID:27096430|REF_RGD_ID:13524560 8722505 Cacng4 calcium voltage-gated channel auxiliary subunit gamma 4 gene DOID:9408 acute myocardial infarction ISO RGD:735495 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood: PMID:27746059|REF_RGD_ID:13524557 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1557447 D RGD:9068941 20220825 MouseDO 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:630 genetic disease ISO RGD:1604740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9004766 Familial Hemophagocytic Lymphohistiocytosis 6 ISO RGD:1604740 D RGD:7240710 20200930 OMIM 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9004766 Familial Hemophagocytic Lymphohistiocytosis 6 ISO RGD:1604740 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6 PMID:25741868 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557447 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8722519 Rc3h1 ring finger and CCCH-type domains 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8722553 Tmcc1 transmembrane and coiled-coil domain family 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8722553 Tmcc1 transmembrane and coiled-coil domain family 1 gene DOID:630 genetic disease ISO RGD:1349742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722553 Tmcc1 transmembrane and coiled-coil domain family 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8722553 Tmcc1 transmembrane and coiled-coil domain family 1 gene DOID:9270 alkaptonuria ISO RGD:1349742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8722571 Znf703 zinc finger protein 703 gene DOID:630 genetic disease ISO RGD:1602208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1323573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1323573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20977743 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9000352 Vascular System Injuries ISO RGD:1311884 D RGD:9068941 20200609 RGD PMID:15217908|REF_RGD_ID:11049588 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9002514 Neointima ISO RGD:1323574 D RGD:9068941 20200609 RGD associated with Vascular System Injuries PMID:23657573|REF_RGD_ID:11049552 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9004657 Weight Gain ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1323573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 8722577 Iqgap1 IQ motif containing GTPase activating protein 1 gene DOID:9256 colorectal cancer ISO RGD:1323573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8722625 Echdc2 enoyl-CoA hydratase domain containing 2 gene DOID:630 genetic disease ISO RGD:1349844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350466 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1350466 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:2843 long QT syndrome ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:5426 primary ovarian insufficiency ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:630 genetic disease ISO RGD:1350466 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9007661 Dwarfism ISO RGD:1350466 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 8722648 Ubr4 ubiquitin protein ligase E3 component n-recognin 4 gene DOID:9008582 Developmental Disease ISO RGD:1350466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:0080600 COVID-19 ISO RGD:1318064 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1318064 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:2224 essential thrombocythemia ISO RGD:1318064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:4971 myelofibrosis ISO RGD:1318064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318064 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood lymphocyte (human) PMID:10077617|REF_RGD_ID:1599360 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:630 genetic disease ISO RGD:1318064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:9004189 T-Cell Lymphoma 1A ISO RGD:1318064 D RGD:7240710 20221123 OMIM 8722766 Tcl1a TCL1 family AKT coactivator A gene DOID:9119 acute myeloid leukemia ISO RGD:1318064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8722772 Aldh1l2 aldehyde dehydrogenase 1 family member L2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1551620 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 8722772 Aldh1l2 aldehyde dehydrogenase 1 family member L2 gene DOID:0080600 COVID-19 ISO RGD:1345617 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8722772 Aldh1l2 aldehyde dehydrogenase 1 family member L2 gene DOID:630 genetic disease ISO RGD:1345617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722772 Aldh1l2 aldehyde dehydrogenase 1 family member L2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8722772 Aldh1l2 aldehyde dehydrogenase 1 family member L2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:1826 epilepsy ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:630 genetic disease ISO RGD:736814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:9000559 Glyoxalase II Deficiency ISO RGD:736814 D RGD:7240710 20210317 OMIM 8722799 Hagh hydroxyacylglutathione hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8722816 Shc3 SHC adaptor protein 3 gene DOID:630 genetic disease ISO RGD:737159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722816 Shc3 SHC adaptor protein 3 gene DOID:9005834 Ependymomas ISO RGD:737159 D RGD:9068941 20200609 RGD DNA:amplification:brain: PMID:19748727|REF_RGD_ID:13782069 8722832 Eloa elongin A gene DOID:630 genetic disease ISO RGD:736026 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722832 Eloa elongin A gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8722860 Atp5mj ATP synthase membrane subunit j gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8722880 Armcx5 armadillo repeat containing X-linked 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8722880 Armcx5 armadillo repeat containing X-linked 5 gene DOID:12849 autistic disorder ISO RGD:1350791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8722880 Armcx5 armadillo repeat containing X-linked 5 gene DOID:630 genetic disease ISO RGD:1350791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722909 Arpc3 actin related protein 2/3 complex subunit 3 gene DOID:14330 Parkinson's disease treatment ISO RGD:1311985 D RGD:9068941 20200609 RGD PMID:20713051|REF_RGD_ID:11049454 8722909 Arpc3 actin related protein 2/3 complex subunit 3 gene DOID:9351 diabetes mellitus ISO RGD:1323728 D RGD:9068941 20200609 RGD associated with Obesity, Morbid;mRNA:decreased expression:omentum, adipose tissue (human) PMID:26504501|REF_RGD_ID:11049459 8722938 Cntn4 contactin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8722938 Cntn4 contactin 4 gene DOID:12849 autistic disorder ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:18349135|PMID:18551756|PMID:21681106|PMID:30208311 8722938 Cntn4 contactin 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 8722938 Cntn4 contactin 4 gene DOID:630 genetic disease ISO RGD:1349263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8722938 Cntn4 contactin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8722938 Cntn4 contactin 4 gene DOID:9006257 Growth Disorders ISO RGD:1349263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 8722938 Cntn4 contactin 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1349263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 8722938 Cntn4 contactin 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15106122 8722973 Plekhg7 pleckstrin homology and RhoGEF domain containing G7 gene DOID:630 genetic disease ISO RGD:1604901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723012 Stk32c serine/threonine kinase 32C gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1314150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8723012 Stk32c serine/threonine kinase 32C gene DOID:630 genetic disease ISO RGD:1314150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723060 Rtp3 receptor transporter protein 3 gene DOID:630 genetic disease ISO RGD:1353966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723060 Rtp3 receptor transporter protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17693185 8723060 Rtp3 receptor transporter protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8723060 Rtp3 receptor transporter protein 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1353966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8723060 Rtp3 receptor transporter protein 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1353966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17693185 8723078 Tyw3 tRNA-yW synthesizing protein 3 homolog gene DOID:630 genetic disease ISO RGD:1603913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723112 Dse dermatan sulfate epimerase gene DOID:0060163 body dysmorphic disorder ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8723112 Dse dermatan sulfate epimerase gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1312897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8723112 Dse dermatan sulfate epimerase gene DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 ISO RGD:1312897 D RGD:7240710 20180130 OMIM 8723112 Dse dermatan sulfate epimerase gene DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 PMID:23704329|PMID:25703627|PMID:25741868|PMID:28492532 8723112 Dse dermatan sulfate epimerase gene DOID:1059 intellectual disability ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8723112 Dse dermatan sulfate epimerase gene DOID:10907 microcephaly ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8723112 Dse dermatan sulfate epimerase gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312897 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 8723112 Dse dermatan sulfate epimerase gene DOID:1826 epilepsy ISO RGD:1312897 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8723112 Dse dermatan sulfate epimerase gene DOID:630 genetic disease ISO RGD:1312897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8723112 Dse dermatan sulfate epimerase gene DOID:9000495 Tremor ISO RGD:1312897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8723112 Dse dermatan sulfate epimerase gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1312897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome PMID:15273283|PMID:25741868 8723125 Zbtb6 zinc finger and BTB domain containing 6 gene DOID:630 genetic disease ISO RGD:1314374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723135 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:1603263 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HADHA-related condition | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12971428|PMID:14630990|PMID:15902556|PMID:16199547|PMID:17143551|PMID:17576681|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:24305961|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:27014569|PMID:27117294|PMID:27491397|PMID:28492532|PMID:28559085|PMID:29124685|PMID:29519241|PMID:30626930|PMID:31589614|PMID:31980526|PMID:32778825|PMID:32827528|PMID:32860008|PMID:34878152|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098 8723135 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8723135 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:630 genetic disease ISO RGD:1603263 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10352164|PMID:10518281|PMID:11773547|PMID:14630990|PMID:15902556|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:27117294|PMID:27491397|PMID:28492532|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 8723135 Garem2 GRB2 associated regulator of MAPK1 subtype 2 gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1603263 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12971428|PMID:14630990|PMID:15902556|PMID:16199547|PMID:17143551|PMID:17576681|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22030098|PMID:22459206|PMID:23430857|PMID:23868323|PMID:24033266|PMID:24305961|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:27014569|PMID:27117294|PMID:27491397|PMID:28492532|PMID:28559085|PMID:29124685|PMID:29519241|PMID:30626930|PMID:30934865|PMID:31589614|PMID:31980526|PMID:32778825|PMID:32827528|PMID:33638202|PMID:34878152|PMID:35433174|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098 8723146 Vash1 vasohibin 1 gene DOID:1059 intellectual disability ISO RGD:1352548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8723146 Vash1 vasohibin 1 gene DOID:10762 portal hypertension disease_progression ISO RGD:1564082 D RGD:9068941 20200609 RGD PMID:24390792|REF_RGD_ID:15003198 8723146 Vash1 vasohibin 1 gene DOID:10762 portal hypertension treatment ISO RGD:1352548 D RGD:9068941 20200609 RGD PMID:24390792|REF_RGD_ID:15003198 8723146 Vash1 vasohibin 1 gene DOID:5082 liver cirrhosis ISO RGD:1352548 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:24390792|REF_RGD_ID:15003198 8723146 Vash1 vasohibin 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:1352548 D RGD:9068941 20200609 RGD PMID:24390792|REF_RGD_ID:15003198 8723146 Vash1 vasohibin 1 gene DOID:630 genetic disease ISO RGD:1352548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723191 Prr5l proline rich 5 like gene DOID:1059 intellectual disability ISO RGD:1605618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8723191 Prr5l proline rich 5 like gene DOID:630 genetic disease ISO RGD:1605618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723234 Tmem183a transmembrane protein 183A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1320480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8723234 Tmem183a transmembrane protein 183A gene DOID:10283 prostate cancer ISO RGD:1320480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8723234 Tmem183a transmembrane protein 183A gene DOID:1540 parathyroid carcinoma ISO RGD:1320480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8723234 Tmem183a transmembrane protein 183A gene DOID:630 genetic disease ISO RGD:1320480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723234 Tmem183a transmembrane protein 183A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1320480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8723234 Tmem183a transmembrane protein 183A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8723254 Chrdl1 chordin like 1 gene DOID:0060305 megalocornea ISO RGD:1349204 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Isolated congenital megalocornea | ClinVar Annotator: match by term: Megalocornea PMID:22284829|PMID:25093588|PMID:25712132|PMID:25741868|PMID:26938784 8723254 Chrdl1 chordin like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8723254 Chrdl1 chordin like 1 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:1349204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 8723254 Chrdl1 chordin like 1 gene DOID:12849 autistic disorder ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8723254 Chrdl1 chordin like 1 gene DOID:5419 schizophrenia ISO RGD:1349204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8723254 Chrdl1 chordin like 1 gene DOID:630 genetic disease ISO RGD:1349204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723303 Kdm4c lysine demethylase 4C gene DOID:0050902 medulloblastoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8723303 Kdm4c lysine demethylase 4C gene DOID:0050902 medulloblastoma ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:19270706|REF_RGD_ID:9587481 8723303 Kdm4c lysine demethylase 4C gene DOID:0060001 withdrawal disorder susceptibility ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:22072270|REF_RGD_ID:9587485 8723303 Kdm4c lysine demethylase 4C gene DOID:0060221 Maffucci syndrome ISO RGD:1316776 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 8723303 Kdm4c lysine demethylase 4C gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1316776 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8723303 Kdm4c lysine demethylase 4C gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 8723303 Kdm4c lysine demethylase 4C gene DOID:10283 prostate cancer severity ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:20127736|REF_RGD_ID:9587486 8723303 Kdm4c lysine demethylase 4C gene DOID:11934 head and neck cancer susceptibility ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snps:cds, intron:p.N396D (rs2296067), IVS10G>T (rs818912) (human) PMID:19339270|REF_RGD_ID:9587748 8723303 Kdm4c lysine demethylase 4C gene DOID:12849 autistic disorder ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) PMID:20410850|REF_RGD_ID:9587484 8723303 Kdm4c lysine demethylase 4C gene DOID:1612 breast cancer severity ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snp:cds:p.D396N (rs2296067) (human) PMID:24952432|REF_RGD_ID:9587745 8723303 Kdm4c lysine demethylase 4C gene DOID:1909 melanoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 8723303 Kdm4c lysine demethylase 4C gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1316776 D RGD:9068941 20200609 RGD protein:increased expression:esophageal epithelium, nucleus (human) PMID:24224128|REF_RGD_ID:9587746 8723303 Kdm4c lysine demethylase 4C gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) PMID:15805246|REF_RGD_ID:9587752 8723303 Kdm4c lysine demethylase 4C gene DOID:4450 renal cell carcinoma ISO RGD:1316776 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:22483639|REF_RGD_ID:9587741 8723303 Kdm4c lysine demethylase 4C gene DOID:4624 Ollier disease ISO RGD:1316776 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:25741868 8723303 Kdm4c lysine demethylase 4C gene DOID:5517 stomach carcinoma severity ISO RGD:1316776 D RGD:9068941 20200609 RGD protein:increased expression:stomach (human) PMID:24418035|REF_RGD_ID:9588260 8723303 Kdm4c lysine demethylase 4C gene DOID:630 genetic disease ISO RGD:1316776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723303 Kdm4c lysine demethylase 4C gene DOID:9004118 Experimental Melanoma ISO RGD:1316776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 8723303 Kdm4c lysine demethylase 4C gene DOID:9008939 Breast Neoplasms ISO RGD:1316776 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23129632|REF_RGD_ID:9587482 8723303 Kdm4c lysine demethylase 4C gene DOID:9008939 Breast Neoplasms severity ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:19784073|REF_RGD_ID:9587479 8723303 Kdm4c lysine demethylase 4C gene DOID:9268 glycine encephalopathy ISO RGD:1316776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 8723303 Kdm4c lysine demethylase 4C gene DOID:986 alopecia areata ISO RGD:1316776 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 8723332 Tfrc transferrin receptor gene DOID:0050642 hypochromic microcytic anemia ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression: erythrocyte: PMID:18552213|REF_RGD_ID:11062089 8723332 Tfrc transferrin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:733275 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8723332 Tfrc transferrin receptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 8723332 Tfrc transferrin receptor gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:733275 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8723332 Tfrc transferrin receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:70488 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:23805238|REF_RGD_ID:11541090 8723332 Tfrc transferrin receptor gene DOID:0111948 immunodeficiency 46 ISO RGD:733275 D RGD:7240710 20180130 OMIM 8723332 Tfrc transferrin receptor gene DOID:0111948 immunodeficiency 46 ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TFRC-related combined immunodeficiency PMID:17576681|PMID:25741868|PMID:26642240|PMID:28492532|PMID:9536098 8723332 Tfrc transferrin receptor gene DOID:0111962 combined immunodeficiency ISO RGD:733275 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:26642240 8723332 Tfrc transferrin receptor gene DOID:10283 prostate cancer ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15514585|REF_RGD_ID:2292017 8723332 Tfrc transferrin receptor gene DOID:10608 celiac disease ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:duodenum: PMID:15054143|REF_RGD_ID:11062102 8723332 Tfrc transferrin receptor gene DOID:11054 urinary bladder cancer ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 8723332 Tfrc transferrin receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8723332 Tfrc transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:70503 D RGD:9068941 20200609 RGD PMID:26303393|REF_RGD_ID:11062104 8723332 Tfrc transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16733738|PMID:17162259|PMID:17163184 8723332 Tfrc transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta: PMID:17877204|REF_RGD_ID:11062105 8723332 Tfrc transferrin receptor gene DOID:11758 iron deficiency anemia ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15104997|REF_RGD_ID:11062096 8723332 Tfrc transferrin receptor gene DOID:12241 beta thalassemia ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:16755567|REF_RGD_ID:11062138 8723332 Tfrc transferrin receptor gene DOID:12241 beta thalassemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 8723332 Tfrc transferrin receptor gene DOID:12849 autistic disorder ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8723332 Tfrc transferrin receptor gene DOID:1612 breast cancer ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14965443|REF_RGD_ID:2292018 8723332 Tfrc transferrin receptor gene DOID:1612 breast cancer severity ISO RGD:733275 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:11299801|REF_RGD_ID:2292021 8723332 Tfrc transferrin receptor gene DOID:1724 duodenal ulcer ISO RGD:70488 D RGD:9068941 20200609 RGD protein:increased expression:duodenal mucosa PMID:19342511|REF_RGD_ID:11541091 8723332 Tfrc transferrin receptor gene DOID:2351 iron metabolism disease ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17163184|PMID:17254562 8723332 Tfrc transferrin receptor gene DOID:2394 ovarian cancer ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:3493065|REF_RGD_ID:2298574 8723332 Tfrc transferrin receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:9373912|REF_RGD_ID:2292023 8723332 Tfrc transferrin receptor gene DOID:3070 high grade glioma ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 8723332 Tfrc transferrin receptor gene DOID:3459 breast carcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:11497259|REF_RGD_ID:2292020 8723332 Tfrc transferrin receptor gene DOID:3702 cervical adenocarcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:9739406|REF_RGD_ID:2292022 8723332 Tfrc transferrin receptor gene DOID:374 nutrition disease ISO RGD:70488 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:18373698|REF_RGD_ID:2292028 8723332 Tfrc transferrin receptor gene DOID:3944 Arenaviridae infectious disease ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17287727 8723332 Tfrc transferrin receptor gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:70503 D RGD:9068941 20221006 MouseDO OMIM:261800 8723332 Tfrc transferrin receptor gene DOID:4450 renal cell carcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, T cell PMID:8050820|REF_RGD_ID:2292025 8723332 Tfrc transferrin receptor gene DOID:4450 renal cell carcinoma ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:kidney, T cell PMID:12394762|REF_RGD_ID:2292024 8723332 Tfrc transferrin receptor gene DOID:5419 schizophrenia ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8723332 Tfrc transferrin receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8723332 Tfrc transferrin receptor gene DOID:627 severe combined immunodeficiency ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26642240 8723332 Tfrc transferrin receptor gene DOID:630 genetic disease ISO RGD:733275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8723332 Tfrc transferrin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:70488 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16953838|REF_RGD_ID:2292036 8723332 Tfrc transferrin receptor gene DOID:767 muscular atrophy ISO RGD:70488 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius PMID:18395385|REF_RGD_ID:2292027 8723332 Tfrc transferrin receptor gene DOID:8955 sideroblastic anemia ISO RGD:70503 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:erythroblast: PMID:21326867|REF_RGD_ID:11062136 8723332 Tfrc transferrin receptor gene DOID:9000242 Lymphoma, AIDS-Related treatment ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:26325374|REF_RGD_ID:11062098 8723332 Tfrc transferrin receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 8723332 Tfrc transferrin receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8723332 Tfrc transferrin receptor gene DOID:9004240 Phyllodes Tumor ISO RGD:733275 D RGD:9068941 20200609 RGD protein:increased expression:myoepithelial cell PMID:2174150|REF_RGD_ID:2292026 8723332 Tfrc transferrin receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:70488 D RGD:9068941 20200609 RGD PMID:17417667|REF_RGD_ID:1601529 8723332 Tfrc transferrin receptor gene DOID:9005172 Lung Neoplasms ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380 8723332 Tfrc transferrin receptor gene DOID:9005372 Inflammation ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16603144 8723332 Tfrc transferrin receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8723332 Tfrc transferrin receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 8723332 Tfrc transferrin receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18549825 8723332 Tfrc transferrin receptor gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:70488 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:22639386|REF_RGD_ID:11541085 8723332 Tfrc transferrin receptor gene DOID:9008114 Helicobacter Infections ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16733738|PMID:17163184 8723332 Tfrc transferrin receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16111806 8723332 Tfrc transferrin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904380|PMID:19238537 8723332 Tfrc transferrin receptor gene DOID:9538 multiple myeloma treatment ISO RGD:733275 D RGD:9068941 20200609 RGD PMID:21654517|REF_RGD_ID:11062101 8723332 Tfrc transferrin receptor gene DOID:9970 obesity ISO RGD:733275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17062801|PMID:20882379 8723366 Znf451 zinc finger protein 451 gene DOID:5419 schizophrenia ISO RGD:1314152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8723366 Znf451 zinc finger protein 451 gene DOID:630 genetic disease ISO RGD:1314152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723386 CUNH7orf25 chromosome unknown C7orf25 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8723386 CUNH7orf25 chromosome unknown C7orf25 homolog gene DOID:630 genetic disease ISO RGD:1317752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:734376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0080941 acquired angioedema ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors PMID:16175507|PMID:20625347|PMID:21898657 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:0080941 acquired angioedema susceptibility ISO RGD:734376 D RGD:7240710 20190502 OMIM 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:734376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:12849 autistic disorder ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:1558 angioedema ISO RGD:734376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16175507 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:630 genetic disease ISO RGD:734376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723404 Xpnpep2 X-prolyl aminopeptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8723429 Hltf helicase like transcription factor gene DOID:0050579 glycogen storage disease XV ISO RGD:1319146 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8723429 Hltf helicase like transcription factor gene DOID:630 genetic disease ISO RGD:1319146 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8723429 Hltf helicase like transcription factor gene DOID:9002265 Kidney Neoplasms ISO RGD:1319146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762066 8723474 Gdf10 growth differentiation factor 10 gene DOID:10283 prostate cancer ISO RGD:1342570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8723474 Gdf10 growth differentiation factor 10 gene DOID:5419 schizophrenia ISO RGD:1342570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8723474 Gdf10 growth differentiation factor 10 gene DOID:630 genetic disease ISO RGD:1342570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723474 Gdf10 growth differentiation factor 10 gene DOID:9003566 Mesothelioma ISO RGD:1342570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949431 8723474 Gdf10 growth differentiation factor 10 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1342570 D RGD:9068941 20230831 RGD mRNA:decreased expression:leg blood vessel (human) PMID:22721676|REF_RGD_ID:401793723 8723474 Gdf10 growth differentiation factor 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1342570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 8723486 Ppp2r5a protein phosphatase 2 regulatory subunit B'alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1317550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8723486 Ppp2r5a protein phosphatase 2 regulatory subunit B'alpha gene DOID:630 genetic disease ISO RGD:1317550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723486 Ppp2r5a protein phosphatase 2 regulatory subunit B'alpha gene DOID:9002884 Emphysema ISO RGD:1317550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 8723486 Ppp2r5a protein phosphatase 2 regulatory subunit B'alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8723520 Plpp4 phospholipid phosphatase 4 gene DOID:1612 breast cancer ISO RGD:1351368 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:16818692|REF_RGD_ID:2314524 8723520 Plpp4 phospholipid phosphatase 4 gene DOID:630 genetic disease ISO RGD:1351368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723537 Sh3bgrl3 SH3 domain binding glutamate rich protein like 3 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1317706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8723537 Sh3bgrl3 SH3 domain binding glutamate rich protein like 3 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1317706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8723537 Sh3bgrl3 SH3 domain binding glutamate rich protein like 3 gene DOID:630 genetic disease ISO RGD:1317706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723537 Sh3bgrl3 SH3 domain binding glutamate rich protein like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8723546 Tspan16 tetraspanin 16 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1349307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8723546 Tspan16 tetraspanin 16 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1349307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8723546 Tspan16 tetraspanin 16 gene DOID:0111254 glutaric acidemia I ISO RGD:1349307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8723546 Tspan16 tetraspanin 16 gene DOID:3413 alpha-mannosidosis ISO RGD:1349307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8723546 Tspan16 tetraspanin 16 gene DOID:630 genetic disease ISO RGD:1349307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:0111254 glutaric acidemia I ISO RGD:1605383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:3413 alpha-mannosidosis ISO RGD:1605383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:22161967|PMID:28492532|PMID:32331969|PMID:9915946 8723562 Wdr83os WD repeat domain 83 opposite strand gene DOID:630 genetic disease ISO RGD:1605383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323745 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:0080942 anauxetic dysplasia ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1323745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:3770 pulmonary fibrosis ISO RGD:1323745 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17717200|REF_RGD_ID:5130910 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:630 genetic disease ISO RGD:1323745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:7148 rheumatoid arthritis ISO RGD:1323745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1323745 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8723570 Ccl21 C-C motif chemokine ligand 21 gene DOID:9870 galactosemia ISO RGD:1323745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8723581 Sem1 SEM1 26S proteasome subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1349756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18922899 8723581 Sem1 SEM1 26S proteasome subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8723601 Rpl35 ribosomal protein L35 gene DOID:0111886 Diamond-Blackfan anemia 19 ISO RGD:1353068 D RGD:7240710 20190315 OMIM 8723601 Rpl35 ribosomal protein L35 gene DOID:0111886 Diamond-Blackfan anemia 19 ISO RGD:1353068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 PMID:28280134 8723601 Rpl35 ribosomal protein L35 gene DOID:630 genetic disease ISO RGD:1353068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8723613 C2cd5 C2 calcium dependent domain containing 5 gene DOID:630 genetic disease ISO RGD:736134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723653 Eif5a2 eukaryotic translation initiation factor 5A2 gene DOID:1062 Fanconi syndrome ISO RGD:1314674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8723653 Eif5a2 eukaryotic translation initiation factor 5A2 gene DOID:630 genetic disease ISO RGD:1314674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723653 Eif5a2 eukaryotic translation initiation factor 5A2 gene DOID:9002644 Premature Aging ISO RGD:1314674 D RGD:9068941 20200609 RGD PMID:21612665|REF_RGD_ID:10395359 8723676 Slc2a5 solute carrier family 2 member 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8723676 Slc2a5 solute carrier family 2 member 5 gene DOID:2843 long QT syndrome ISO RGD:68456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8723676 Slc2a5 solute carrier family 2 member 5 gene DOID:630 genetic disease ISO RGD:68456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723676 Slc2a5 solute carrier family 2 member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8723676 Slc2a5 solute carrier family 2 member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:68456 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15449313 8723692 Pus1 pseudouridine synthase 1 gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:1323553 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:25741868|PMID:28492532 8723692 Pus1 pseudouridine synthase 1 gene DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 ISO RGD:1323553 D RGD:7240710 20190320 OMIM 8723692 Pus1 pseudouridine synthase 1 gene DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 ISO RGD:1323553 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition PMID:14981724|PMID:15108122|PMID:15772074|PMID:15971356|PMID:17056637|PMID:18648068|PMID:19731322|PMID:23707380|PMID:25058219|PMID:25227147|PMID:25741868|PMID:26556812|PMID:27374853|PMID:28492532|PMID:7726239 8723692 Pus1 pseudouridine synthase 1 gene DOID:630 genetic disease ISO RGD:1323553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8723692 Pus1 pseudouridine synthase 1 gene DOID:699 mitochondrial myopathy ISO RGD:1323553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:28492532 8723692 Pus1 pseudouridine synthase 1 gene DOID:8955 sideroblastic anemia ISO RGD:1323553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia PMID:25741868|PMID:28492532 8723692 Pus1 pseudouridine synthase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1323553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8723692 Pus1 pseudouridine synthase 1 gene DOID:9000918 Disease Progression ISO RGD:1323553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8723692 Pus1 pseudouridine synthase 1 gene DOID:9256 colorectal cancer ISO RGD:1323553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8723724 Slu7 SLU7 homolog, splicing factor gene DOID:630 genetic disease ISO RGD:1606825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723724 Slu7 SLU7 homolog, splicing factor gene DOID:9004657 Weight Gain ISO RGD:1606825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8723745 LOC102027510 olfactory receptor 10X1 gene DOID:1540 parathyroid carcinoma ISO RGD:1342523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8723745 LOC102027510 olfactory receptor 10X1 gene DOID:630 genetic disease ISO RGD:1342523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723745 LOC102027510 olfactory receptor 10X1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1606823 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:25741868|PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606823 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1606823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:1059 intellectual disability ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:1067 open-angle glaucoma ISO RGD:1606823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26752265 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:11372 megacolon ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:12849 autistic disorder ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:32257832|PMID:9536098 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:1826 epilepsy ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:2213 hemorrhagic disease ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:3070 high grade glioma ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:5419 schizophrenia ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:630 genetic disease ISO RGD:1606823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:61960 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:19128823|REF_RGD_ID:5685030 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61960 D RGD:9068941 20200609 RGD mRNA:altered expression:myocardium (rat) PMID:20571744|REF_RGD_ID:5133714 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:1606823 D RGD:7240710 20190315 OMIM 8723748 Txnrd2 thioredoxin reductase 2 gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:1606823 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 5 | ClinVar Annotator: match by term: TXNRD2-related condition PMID:16199547|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:32257832 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0050700 cardiomyopathy ISO RGD:735789 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:2255271|PMID:22555271|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24736382|PMID:25163546|PMID:25741868|PMID:27532257|PMID:28138913|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28798025|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32815737|PMID:32880476|PMID:34011823|PMID:34088380|PMID:34935411|PMID:35026164|PMID:676951|PMID:9536098|PMID:9563954 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735789 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29907873|PMID:30371277|PMID:35626289 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110110 atrial heart septal defect 5 ISO RGD:735789 D RGD:7240710 20180130 OMIM 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110110 atrial heart septal defect 5 ISO RGD:735789 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Atrial septal defect 5 PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22464770|PMID:2255271|PMID:22555271|PMID:22563033|PMID:23054336|PMID:24033266|PMID:24461919|PMID:24736382|PMID:25163546|PMID:25239116|PMID:25611685|PMID:25741868|PMID:27532257|PMID:27561770|PMID:28138913|PMID:28416588|PMID:28492532|PMID:28790153|PMID:28798025|PMID:29764897|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32880476|PMID:33500567|PMID:34088380|PMID:34935411|PMID:35026164|PMID:676951|PMID:9536098 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:735789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:735789 D RGD:7240710 20180130 OMIM 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:735789 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 11 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:10330430|PMID:10494087|PMID:10966831|PMID:11052860|PMID:12222827|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16199547|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18403758|PMID:18458017|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19562689|PMID:19799913|PMID:20497191|PMID:20600154|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22464770|PMID:2255271|PMID:22555271|PMID:22563033|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24461919|PMID:24503780|PMID:24691700|PMID:24736382|PMID:24793351|PMID:25132132|PMID:25163546|PMID:25239116|PMID:25524337|PMID:25611685|PMID:25741868|PMID:26914223|PMID:27125413|PMID:27532257|PMID:27561770|PMID:27600940|PMID:28138913|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28973083|PMID:29121657|PMID:29440008|PMID:29719515|PMID:29764897|PMID:30297972|PMID:30371277|PMID:30471092|PMID:30600190|PMID:30665703|PMID:30685992|PMID:30762279|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:31481237|PMID:32815737|PMID:32880476|PMID:33019804|PMID:33049292|PMID:33309763|PMID:33500567|PMID:34011823|PMID:34088380|PMID:34935411|PMID:35026164|PMID:35457283|PMID:35626289|PMID:676951|PMID:9536098|PMID:9563954 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110456 dilated cardiomyopathy 1R ISO RGD:735789 D RGD:7240710 20180228 OMIM 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:0110456 dilated cardiomyopathy 1R ISO RGD:735789 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1R PMID:10494087|PMID:10966831|PMID:11052860|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20600154|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:2255271|PMID:22555271|PMID:22563033|PMID:22590617|PMID:23054336|PMID:23283745|PMID:24033266|PMID:24461919|PMID:24736382|PMID:25163546|PMID:25239116|PMID:25611685|PMID:25741868|PMID:27532257|PMID:27561770|PMID:28138913|PMID:28416588|PMID:28492532|PMID:28790153|PMID:28798025|PMID:28973083|PMID:29719515|PMID:29764897|PMID:30371277|PMID:30471092|PMID:30847666|PMID:31246743|PMID:31430208|PMID:31434612|PMID:32880476|PMID:33309763|PMID:33500567|PMID:34011823|PMID:34088380|PMID:34935411|PMID:35026164|PMID:35457283|PMID:676951|PMID:9536098|PMID:9563954 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:10763 hypertension ISO RGD:2026 D RGD:9068941 20200609 RGD PMID:16343576|REF_RGD_ID:1598724 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735789 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17576681|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:21839045|PMID:22563033|PMID:24033266|PMID:24736382|PMID:25239116|PMID:25611685|PMID:25741868|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28790153|PMID:30371277|PMID:9536098 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735789 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735789 D RGD:9068941 20200609 RGD DNA:point mutations: :p.Arg312His, p.Glu361Gly (human) PMID:9563954|REF_RGD_ID:1559158 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:1882 atrial heart septal defect ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:2717 Bloom syndrome ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:397 restrictive cardiomyopathy ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:630 genetic disease ISO RGD:735789 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:28973083|PMID:33309763|PMID:33500567 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:735789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:9005930 Endotoxemia ISO RGD:2026 D RGD:9068941 20200609 RGD PMID:11680626|REF_RGD_ID:1598729 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:735789 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS PMID:25741868|PMID:28416588|PMID:28492532|PMID:28798025|PMID:30471092|PMID:30847666|PMID:32880476|PMID:34088380|PMID:34935411 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:9256 colorectal cancer ISO RGD:735789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8723771 Actc1 actin alpha cardiac muscle 1 gene DOID:9835 refractive error ISO RGD:735789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835239 8723782 Klhl5 kelch like family member 5 gene DOID:630 genetic disease ISO RGD:1320120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723782 Klhl5 kelch like family member 5 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1320120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8723782 Klhl5 kelch like family member 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1320120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8723782 Klhl5 kelch like family member 5 gene DOID:9975 cocaine dependence susceptibility ISO RGD:1320120 D RGD:9068941 20231102 RGD DNA:SNP:: (rs1046655) (human) PMID:18438686|REF_RGD_ID:401851917 8723798 Rps15a ribosomal protein S15a gene DOID:0111891 Diamond-Blackfan anemia 20 ISO RGD:735975 D RGD:7240710 20190315 OMIM 8723798 Rps15a ribosomal protein S15a gene DOID:0111891 Diamond-Blackfan anemia 20 ISO RGD:735975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 PMID:27909223 8723813 Cerkl ceramide kinase like gene DOID:0050572 cone-rod dystrophy ISO RGD:1346381 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:14681825|PMID:15708351|PMID:16199547|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:30718709|PMID:34906470|PMID:36909829 8723813 Cerkl ceramide kinase like gene DOID:0050795 cone dystrophy ISO RGD:1346381 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:14681825|PMID:15708351|PMID:16199547|PMID:19578027|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24625443|PMID:24705292|PMID:25097241|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:28838317|PMID:30718709|PMID:32531858|PMID:33921607|PMID:34906470|PMID:36909829 8723813 Cerkl ceramide kinase like gene DOID:0050817 Stargardt disease ISO RGD:1346381 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:14681825|PMID:16199547|PMID:23591405|PMID:24043777|PMID:25741868|PMID:27813578|PMID:28492532 8723813 Cerkl ceramide kinase like gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1346381 D RGD:7240710 20180130 OMIM 8723813 Cerkl ceramide kinase like gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1346381 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19578027|PMID:19667359|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:23661369|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:24705292|PMID:24735978|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26355662|PMID:26766544|PMID:27208204|PMID:27813578|PMID:27898983|PMID:28041643|PMID:28130426|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:29555955|PMID:30029497|PMID:30337596|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31106028|PMID:31429209|PMID:31456290|PMID:31736247|PMID:31816670|PMID:32037395|PMID:32531858|PMID:33090715|PMID:33322828|PMID:33749171|PMID:33921607|PMID:34315337|PMID:34906470|PMID:35318874|PMID:36909829|PMID:9536098 8723813 Cerkl ceramide kinase like gene DOID:10584 retinitis pigmentosa ISO RGD:1346381 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:14681825|PMID:15708351|PMID:17576681|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:25097241|PMID:25342276|PMID:25741868|PMID:25999674|PMID:26355662|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29068140|PMID:30054919|PMID:30718709|PMID:31456290|PMID:32531858|PMID:9536098 8723813 Cerkl ceramide kinase like gene DOID:10584 retinitis pigmentosa ISO RGD:1346381 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24547929|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25342276|PMID:25741868|PMID:25999674|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:30054919|PMID:30718709|PMID:31456290|PMID:31816670|PMID:32037395|PMID:32531858|PMID:33322828|PMID:33749171|PMID:34315337|PMID:34906470|PMID:35318874|PMID:9536098 8723813 Cerkl ceramide kinase like gene DOID:10584 retinitis pigmentosa ISO RGD:1346381 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14681825|PMID:15708351|PMID:16199547|PMID:17576681|PMID:18055789|PMID:18978954|PMID:19501188|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23105016|PMID:23591405|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24547929|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25342276|PMID:25741868|PMID:25999674|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:30054919|PMID:30718709|PMID:31456290|PMID:31816670|PMID:32037395|PMID:32531858|PMID:33322828|PMID:33749171|PMID:33921607|PMID:34315337|PMID:34906470|PMID:35318874|PMID:36909829|PMID:9536098 8723813 Cerkl ceramide kinase like gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1346381 D RGD:9068941 20200609 RGD DNA:mutation:exon PMID:14681825|REF_RGD_ID:1600829 8723813 Cerkl ceramide kinase like gene DOID:4448 macular degeneration ISO RGD:1346381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 8723813 Cerkl ceramide kinase like gene DOID:630 genetic disease ISO RGD:1346381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8723813 Cerkl ceramide kinase like gene DOID:8501 fundus dystrophy ISO RGD:1346381 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14681825|PMID:15708351|PMID:18978954|PMID:19501188|PMID:19578027|PMID:20554613|PMID:21151602|PMID:22164218|PMID:221642182|PMID:23591405|PMID:23661369|PMID:24043777|PMID:24123366|PMID:24498393|PMID:24625443|PMID:24705292|PMID:24735978|PMID:25097241|PMID:25356976|PMID:25741868|PMID:25999674|PMID:27208204|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29068140|PMID:30718709|PMID:31816670|PMID:32037395|PMID:33322828|PMID:34315337|PMID:34906470|PMID:35318874|PMID:36909829 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0050902 medulloblastoma ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1352934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1352934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ISO RGD:1352934 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type PMID:2563148|PMID:25741868|PMID:26235985 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352934 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:26235985|PMID:28135719|PMID:28492532|PMID:31474318 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1352934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:1059 intellectual disability ISO RGD:1352934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26235985|PMID:28492532|PMID:30349862|PMID:32165824|PMID:34008892 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:1059 intellectual disability ISO RGD:1352934 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26235985|PMID:28492532|PMID:30349862|PMID:34008892 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:12849 autistic disorder ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:1612 breast cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:breast, nucleus (human) PMID:28761359|REF_RGD_ID:151356502 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:1790 malignant mesothelioma ISO RGD:1352934 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:1826 epilepsy ISO RGD:1352934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352934 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:24183723 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:630 genetic disease ISO RGD:1352934 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12535527|PMID:16199547|PMID:17576681|PMID:17631897|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:28333917|PMID:28371085|PMID:28492532|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:32135084|PMID:32371413|PMID:33504798|PMID:33993884|PMID:34356170|PMID:9536098 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1557808 D RGD:9068941 20220210 RGD PMID:30297359|REF_RGD_ID:151356499 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1352934 D RGD:9068941 20220210 RGD associated with hepatitis B; mRNA,protein:decreased expression:liver (human) PMID:16301996|REF_RGD_ID:151356660 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:8398 osteoarthritis ISO RGD:1352934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:8649 tongue cancer ameliorates ISO RGD:1557808 D RGD:9068941 20220210 RGD PMID:25918862|REF_RGD_ID:151356506 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352934 D RGD:9068941 20220210 RGD human cells in mouse model PMID:26087195|REF_RGD_ID:11096798 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352934 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1352934 D RGD:7240710 20180130 OMIM 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1352934 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DDX3X-related X-linked intellectual disability | ClinVar Annotator: match by term: DDX3X-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE | ClinVar Annotator: match by term: X-linked intellectual disability-hypotonia-movement disorder syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:25533962|PMID:2563148|PMID:25741868|PMID:25741895|PMID:26235985|PMID:26598523|PMID:27159028|PMID:28135719|PMID:28371085|PMID:28492532|PMID:29490693|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:30936465|PMID:31474318|PMID:31618753|PMID:31785789|PMID:32135084|PMID:32371413|PMID:32600431|PMID:33504798|PMID:33692367|PMID:33993884|PMID:34008892|PMID:34356170|PMID:9536098 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9008086 Developmental Disabilities ISO RGD:1352934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741895 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:31391454|REF_RGD_ID:151356658 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer ameliorates ISO RGD:1352934 D RGD:9068941 20220210 RGD human cells in mouse model PMID:31391454|REF_RGD_ID:151356658 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:26892600|PMID:27007150|REF_RGD_ID:151356503|REF_RGD_ID:151356505 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer exacerbates ISO RGD:1352934 D RGD:9068941 20220210 RGD protein:increased expression:colorectum, nucleus (human) PMID:28761359|REF_RGD_ID:151356502 8723832 Ddx3x DEAD-box helicase 3 X-linked gene DOID:9256 colorectal cancer treatment ISO RGD:1352934 D RGD:9068941 20220210 RGD PMID:26087195|REF_RGD_ID:11096798 8723867 Cd207 CD207 molecule gene DOID:543 dystonia ISO RGD:1347897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8723867 Cd207 CD207 molecule gene DOID:630 genetic disease ISO RGD:1347897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723867 Cd207 CD207 molecule gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8723885 B9d1 B9 domain containing 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868 8723885 B9d1 B9 domain containing 1 gene DOID:0050777 Joubert syndrome ISO RGD:1602004 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:17576681|PMID:24886560|PMID:25741868|PMID:26092869|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0050778 Meckel syndrome ISO RGD:1602004 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 8723885 B9d1 B9 domain containing 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8723885 B9d1 B9 domain containing 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1602004 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:25741868|PMID:28492532 8723885 B9d1 B9 domain containing 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1602004 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8723885 B9d1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16007087|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:27123465|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602004 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16199547|PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:0110996 Joubert Syndrome 27 ISO RGD:1602004 D RGD:7240710 20190315 OMIM 8723885 B9d1 B9 domain containing 1 gene DOID:0110996 Joubert Syndrome 27 ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 27 PMID:17576681|PMID:21493627|PMID:24886560|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26477546|PMID:28492532|PMID:32622957|PMID:34906502|PMID:9536098 8723885 B9d1 B9 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8723885 B9d1 B9 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8723885 B9d1 B9 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8723885 B9d1 B9 domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8723885 B9d1 B9 domain containing 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1602004 D RGD:7240710 20180130 OMIM 8723885 B9d1 B9 domain containing 1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1602004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627|PMID:25741868|PMID:28492532 8723885 B9d1 B9 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0110994 Joubert syndrome 25 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0111934 immunodeficiency 38 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:0111935 immunodeficiency 16 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:630 genetic disease ISO RGD:2293894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2293894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8723911 Ttc34 tetratricopeptide repeat domain 34 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2293894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8723925 Fbp2 fructose-bisphosphatase 2 gene DOID:12642 hiatus hernia ISO RGD:732425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 8723925 Fbp2 fructose-bisphosphatase 2 gene DOID:630 genetic disease ISO RGD:732425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723925 Fbp2 fructose-bisphosphatase 2 gene DOID:9004590 Acute Liver Failure ISO RGD:732425 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 8723925 Fbp2 fructose-bisphosphatase 2 gene DOID:9005894 Childhood-Onset Remitting Leukodystrophy ISO RGD:732425 D RGD:7240710 20220518 OMIM 8723925 Fbp2 fructose-bisphosphatase 2 gene DOID:9005894 Childhood-Onset Remitting Leukodystrophy ISO RGD:732425 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, childhood-onset, remitting PMID:33977262 8723936 Ankrd33b ankyrin repeat domain 33B gene DOID:630 genetic disease ISO RGD:2307384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723945 Prrx1 paired related homeobox 1 gene DOID:0060224 atrial fibrillation ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366 8723945 Prrx1 paired related homeobox 1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1606834 D RGD:7240710 20180130 OMIM 8723945 Prrx1 paired related homeobox 1 gene DOID:0060341 agnathia-otocephaly complex ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agnathia-otocephaly complex PMID:12244557|PMID:21294718|PMID:22211708|PMID:22674740|PMID:23444262|PMID:25741868 8723945 Prrx1 paired related homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8723945 Prrx1 paired related homeobox 1 gene DOID:3213 demyelinating disease ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30566868 8723945 Prrx1 paired related homeobox 1 gene DOID:630 genetic disease ISO RGD:1606834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723945 Prrx1 paired related homeobox 1 gene DOID:9001031 Retrognathia ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23444262 8723945 Prrx1 paired related homeobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8723945 Prrx1 paired related homeobox 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8723945 Prrx1 paired related homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8723970 Mepce methylphosphate capping enzyme gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8723970 Mepce methylphosphate capping enzyme gene DOID:630 genetic disease ISO RGD:1603022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8723979 Afg2a AFG2 AAA ATPase homolog A gene DOID:1826 epilepsy ISO RGD:1321404 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8723979 Afg2a AFG2 AAA ATPase homolog A gene DOID:5419 schizophrenia ISO RGD:1321404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8723979 Afg2a AFG2 AAA ATPase homolog A gene DOID:630 genetic disease ISO RGD:1321404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25741868|PMID:26299366|PMID:28293831|PMID:28492532 8723979 Afg2a AFG2 AAA ATPase homolog A gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1321404 D RGD:7240710 20180130 OMIM 8723979 Afg2a AFG2 AAA ATPase homolog A gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1321404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26299366|PMID:26467025|PMID:27683084|PMID:28293831|PMID:28492532|PMID:28513609|PMID:29343804|PMID:29389922|PMID:30552426|PMID:31912665|PMID:9536098 8723979 Afg2a AFG2 AAA ATPase homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321404 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26299366|PMID:28492532|PMID:28513609 8724002 Btbd1 BTB domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1322160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8724002 Btbd1 BTB domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1322160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8724002 Btbd1 BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1322160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724002 Btbd1 BTB domain containing 1 gene DOID:9008456 Delayed Emergence from Anesthesia ISO RGD:1322160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115977 8724002 Btbd1 BTB domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1322160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8724032 Apln apelin gene DOID:0060180 colitis ISO RGD:1332289 D RGD:9068941 20200609 RGD PMID:17391779|REF_RGD_ID:1626177 8724032 Apln apelin gene DOID:0060180 colitis ISO RGD:620672 D RGD:9068941 20200609 RGD PMID:17391779|REF_RGD_ID:1626177 8724032 Apln apelin gene DOID:0060224 atrial fibrillation ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16278229|REF_RGD_ID:1626174 8724032 Apln apelin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8724032 Apln apelin gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1351986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 8724032 Apln apelin gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1351986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 8724032 Apln apelin gene DOID:10763 hypertension ISO RGD:620672 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta, heart PMID:15664402|REF_RGD_ID:1626176 8724032 Apln apelin gene DOID:11981 morbid obesity ISO RGD:1351986 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19756893|REF_RGD_ID:2313938 8724032 Apln apelin gene DOID:11981 morbid obesity ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15970339|REF_RGD_ID:1600932 8724032 Apln apelin gene DOID:12849 autistic disorder ISO RGD:1351986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8724032 Apln apelin gene DOID:1920 hyperuricemia ISO RGD:1351986 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30710622 8724032 Apln apelin gene DOID:4248 coronary stenosis ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19015606|REF_RGD_ID:2313942 8724032 Apln apelin gene DOID:6000 congestive heart failure ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16263185|REF_RGD_ID:1626175 8724032 Apln apelin gene DOID:6000 congestive heart failure ISO RGD:620672 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:17055480|REF_RGD_ID:1626171 8724032 Apln apelin gene DOID:6000 congestive heart failure ISO RGD:620672 D RGD:9068941 20200609 RGD protein:increased expression:ventricle myocardium PMID:17119870|REF_RGD_ID:1626186 8724032 Apln apelin gene DOID:630 genetic disease ISO RGD:1351986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724032 Apln apelin gene DOID:6432 pulmonary hypertension ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16263185|REF_RGD_ID:1626175 8724032 Apln apelin gene DOID:684 hepatocellular carcinoma ISO RGD:1351986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8724032 Apln apelin gene DOID:8577 ulcerative colitis ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17391779|REF_RGD_ID:1626177 8724032 Apln apelin gene DOID:8778 Crohn's disease ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17391779|REF_RGD_ID:1626177 8724032 Apln apelin gene DOID:9000784 Fibrosis ISO RGD:1351986 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 8724032 Apln apelin gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:1332289 D RGD:9068941 20230608 RGD PMID:23867624|REF_RGD_ID:329848996 8724032 Apln apelin gene DOID:9003936 Cardiomegaly ISO RGD:1351986 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 8724032 Apln apelin gene DOID:9003936 Cardiomegaly ISO RGD:620672 D RGD:9068941 20200609 RGD associated with Hypertension;protein:decreased expression:plasma, aorta, ventricle myocardium PMID:16674982|REF_RGD_ID:1626173 8724032 Apln apelin gene DOID:9006024 Hypotension ISO RGD:1351986 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30634441 8724032 Apln apelin gene DOID:9007692 Insulin Resistance ISO RGD:620672 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:17594060|REF_RGD_ID:1626170 8724032 Apln apelin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351986 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:18484561|REF_RGD_ID:2313944 8724032 Apln apelin gene DOID:9775 diastolic heart failure ISO RGD:1351986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8724032 Apln apelin gene DOID:9970 obesity ISO RGD:620672 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:17594060|REF_RGD_ID:1626170 8724047 Ino80d INO80 complex subunit D gene DOID:11372 megacolon ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8724047 Ino80d INO80 complex subunit D gene DOID:14557 primary pulmonary hypertension ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8724047 Ino80d INO80 complex subunit D gene DOID:630 genetic disease ISO RGD:1606537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724047 Ino80d INO80 complex subunit D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8724068 Crybb1 crystallin beta B1 gene DOID:0110270 cataract 17 multiple types ISO RGD:731502 D RGD:7240710 20180130 OMIM 8724068 Crybb1 crystallin beta B1 gene DOID:0110270 cataract 17 multiple types ISO RGD:731502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cataract 17 multiple types PMID:12360425|PMID:16110300|PMID:17460281|PMID:17576681|PMID:20565250|PMID:21402992|PMID:21972112|PMID:25086334|PMID:25741868|PMID:28492532|PMID:32854469|PMID:33223529|PMID:9536098 8724068 Crybb1 crystallin beta B1 gene DOID:0110271 cataract 23 ISO RGD:731502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 8724068 Crybb1 crystallin beta B1 gene DOID:5419 schizophrenia ISO RGD:731502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8724068 Crybb1 crystallin beta B1 gene DOID:630 genetic disease ISO RGD:731502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8724068 Crybb1 crystallin beta B1 gene DOID:83 cataract ISO RGD:731502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:28272538 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1605823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1605823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1605823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1605823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:1059 intellectual disability ISO RGD:1605823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:2377 multiple sclerosis ISO RGD:1605823 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:630 genetic disease ISO RGD:1605823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724078 Dusp28 dual specificity phosphatase 28 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1605823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8724084 Siah2 siah E3 ubiquitin protein ligase 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:734303 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8724084 Siah2 siah E3 ubiquitin protein ligase 2 gene DOID:110 lens disease ISO RGD:734303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24282676 8724084 Siah2 siah E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:734303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724092 Tbc1d10a TBC1 domain family member 10A gene DOID:630 genetic disease ISO RGD:1605322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724134 Paqr3 progestin and adipoQ receptor family member 3 gene DOID:630 genetic disease ISO RGD:1321322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724176 Gadl1 glutamate decarboxylase like 1 gene DOID:13938 amenorrhea ISO RGD:1351528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8724176 Gadl1 glutamate decarboxylase like 1 gene DOID:630 genetic disease ISO RGD:1351528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724176 Gadl1 glutamate decarboxylase like 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1351528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8724206 Defb123 defensin beta 123 gene DOID:630 genetic disease ISO RGD:1351372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724212 Chd9 chromodomain helicase DNA binding protein 9 gene DOID:630 genetic disease ISO RGD:1315612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:0080943 46,XX sex reversal 5 ISO RGD:735361 D RGD:7240710 20200701 OMIM 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:0080943 46,XX sex reversal 5 ISO RGD:735361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,xx sex reversal 5 PMID:25741868|PMID:27363585|PMID:29478779 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:10763 hypertension ISO RGD:69305 D RGD:9068941 20200609 RGD PMID:25687237|REF_RGD_ID:10401852 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:289 endometriosis ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:735362 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:630 genetic disease ISO RGD:735361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:29222010|PMID:32719394 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:735361 D RGD:7240710 20180130 OMIM 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:735361 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 PMID:10215630|PMID:24702954|PMID:25741868|PMID:27363585|PMID:28492532|PMID:29222010|PMID:29478779|PMID:29570242|PMID:29663647 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9003735 Splenic Hypoplasia ISO RGD:735361 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asplenia PMID:24702954|PMID:25741868 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:735361 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9007456 Female Infertility ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17590085 8724276 Nr2f2 nuclear receptor subfamily 2 group F member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 8724293 Sfn stratifin gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1312341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8724293 Sfn stratifin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1312341 D RGD:9068941 20211126 RGD protein:increased expression:urothelium (human) PMID:17645415|REF_RGD_ID:2299928 8724293 Sfn stratifin gene DOID:1749 squamous cell carcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8724293 Sfn stratifin gene DOID:2101 vulva squamous cell carcinoma ISO RGD:1312341 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:vulva PMID:11896620|REF_RGD_ID:2299936 8724293 Sfn stratifin gene DOID:2394 ovarian cancer ISO RGD:1312341 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16773180|REF_RGD_ID:2299930 8724293 Sfn stratifin gene DOID:2394 ovarian cancer disease_progression ISO RGD:1312341 D RGD:9068941 20200609 RGD PMID:15102672|REF_RGD_ID:2299933 8724293 Sfn stratifin gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1312341 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16964403|REF_RGD_ID:2299929 8724293 Sfn stratifin gene DOID:2871 endometrial carcinoma ISO RGD:1312341 D RGD:9068941 20200609 RGD PMID:16271083|REF_RGD_ID:2299931 8724293 Sfn stratifin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8724293 Sfn stratifin gene DOID:3910 lung adenocarcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8724293 Sfn stratifin gene DOID:630 genetic disease ISO RGD:1312341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724293 Sfn stratifin gene DOID:684 hepatocellular carcinoma ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8724293 Sfn stratifin gene DOID:8719 in situ carcinoma ISO RGD:1312341 D RGD:9068941 20200609 RGD mRNA:decreased expression:vulva PMID:11896620|REF_RGD_ID:2299936 8724293 Sfn stratifin gene DOID:9000058 Keloid ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8724293 Sfn stratifin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8724293 Sfn stratifin gene DOID:9000117 Esophageal Neoplasms ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8724293 Sfn stratifin gene DOID:9007364 Mouth Neoplasms ISO RGD:1312341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8724298 Ccdc51 coiled-coil domain containing 51 gene DOID:630 genetic disease ISO RGD:1602866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724298 Ccdc51 coiled-coil domain containing 51 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8724309 Hsf5 heat shock transcription factor 5 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604244 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8724309 Hsf5 heat shock transcription factor 5 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1604244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 8724309 Hsf5 heat shock transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1604244 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8724309 Hsf5 heat shock transcription factor 5 gene DOID:630 genetic disease ISO RGD:1604244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:736589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:736589 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:1059 intellectual disability ISO RGD:736589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:10652 Alzheimer's disease ISO RGD:736589 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (human) PMID:20427654|REF_RGD_ID:9835008 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:10652 Alzheimer's disease ISO RGD:736590 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (mouse) PMID:16237174|REF_RGD_ID:10044037 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:10652 Alzheimer's disease severity ISO RGD:736590 D RGD:9068941 20200609 RGD PMID:20956308|REF_RGD_ID:9835007 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:224 transient cerebral ischemia ISO RGD:3448 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, decreased expression:striatum (rat) PMID:24198371|REF_RGD_ID:9835010 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:224 transient cerebral ischemia severity ISO RGD:736590 D RGD:9068941 20200609 RGD PMID:24198371|REF_RGD_ID:9835010 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3448 D RGD:9068941 20200609 RGD PMID:24198371|REF_RGD_ID:9835010 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:630 genetic disease ISO RGD:736589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:9002955 Nerve Degeneration ISO RGD:736589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17360923 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3448 D RGD:9068941 20200609 RGD STEP33;protein:increased expression:forebrain (rat) PMID:10537057|REF_RGD_ID:9835021 8724324 Ptpn5 protein tyrosine phosphatase non-receptor type 5 gene DOID:9008091 Optic Nerve Injuries ISO RGD:3448 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:15555919|REF_RGD_ID:9835027 8724348 Selenot selenoprotein T gene DOID:0050579 glycogen storage disease XV ISO RGD:1602000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8724348 Selenot selenoprotein T gene DOID:630 genetic disease ISO RGD:1602000 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724363 Pard6a par-6 family cell polarity regulator alpha gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1345737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 8724363 Pard6a par-6 family cell polarity regulator alpha gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1345737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8724363 Pard6a par-6 family cell polarity regulator alpha gene DOID:630 genetic disease ISO RGD:1345737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724376 LOC102026235 chromosome unknown open reading frame, human C12orf54 gene DOID:630 genetic disease ISO RGD:1606175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:24033266|PMID:25741868|PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080074 neural tube defect ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:17409324|PMID:19319979|PMID:22892949|PMID:24033266|PMID:24307374|PMID:24407469|PMID:24452931|PMID:24838524|PMID:25068569|PMID:25208524|PMID:25741868|PMID:26196381|PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080074 neural tube defect susceptibility ISO RGD:1319967 D RGD:7240710 20240313 OMIM 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080690 RASopathy ISO RGD:1319967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080700 caudal regression syndrome ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele PMID:17409324|PMID:19319979|PMID:22892949|PMID:24033266|PMID:24307374|PMID:24407469|PMID:24452931|PMID:24838524|PMID:25068569|PMID:25208524|PMID:25741868|PMID:26196381|PMID:28492532 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:0080700 caudal regression syndrome susceptibility ISO RGD:1319967 D RGD:7240710 20240313 OMIM 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:10126 keratoconus ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:11836 clubfoot ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:630 genetic disease ISO RGD:1319967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724387 Vangl1 VANGL planar cell polarity protein 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1319967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:24033266|PMID:25741868|PMID:28492532 8724412 Cubn cubilin gene DOID:0060041 autism spectrum disorder ISO RGD:68502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:15024727|PMID:22929189|PMID:25741868|PMID:28492532|PMID:31613795 8724412 Cubn cubilin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:68502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8724412 Cubn cubilin gene DOID:10591 pre-eclampsia ISO RGD:68502 D RGD:9068941 20231130 RGD associated with late term delivery; mRNA:decreased expression:placenta (human) PMID:32682061|REF_RGD_ID:401901078 8724412 Cubn cubilin gene DOID:13382 megaloblastic anemia ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27197912|PMID:28492532|PMID:29801666|PMID:31497480|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 8724412 Cubn cubilin gene DOID:1909 melanoma ISO RGD:68502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8724412 Cubn cubilin gene DOID:3393 coronary artery disease susceptibility ISO RGD:68502 D RGD:9068941 20230629 RGD DNA:SNP,haplotypes:intron: (rs2291521)G>A (human) PMID:33004870|REF_RGD_ID:329901841 8724412 Cubn cubilin gene DOID:630 genetic disease ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8724412 Cubn cubilin gene DOID:670 amphetamine abuse ISO RGD:68502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8724412 Cubn cubilin gene DOID:9002165 Diabetic Nephropathies ISO RGD:68355 D RGD:9068941 20200609 RGD PMID:17037740|REF_RGD_ID:1599655 8724412 Cubn cubilin gene DOID:9005529 Chronic Benign Proteinuria ISO RGD:68502 D RGD:7240710 20200819 OMIM 8724412 Cubn cubilin gene DOID:9005529 Chronic Benign Proteinuria ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteinuria, chronic benign PMID:10080186|PMID:15024727|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22929189|PMID:24033266|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29801666|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 8724412 Cubn cubilin gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:68502 D RGD:7240710 20180130 OMIM 8724412 Cubn cubilin gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:21208123|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27197912|PMID:28492532|PMID:29801666|PMID:31497480|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 8724412 Cubn cubilin gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:68502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:10080186|PMID:10887099|PMID:15024727|PMID:15963748|PMID:16199547|PMID:17576681|PMID:17668238|PMID:22277662|PMID:22495309|PMID:22929189|PMID:24033266|PMID:24156255|PMID:25349199|PMID:25525159|PMID:25741868|PMID:26040326|PMID:26467025|PMID:27197912|PMID:28204945|PMID:28492532|PMID:29801666|PMID:31497480|PMID:31613795|PMID:33226606|PMID:33532864|PMID:34979989|PMID:9536098 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1320234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1320234 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:1059 intellectual disability ISO RGD:1320234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:11476 osteoporosis ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:12858 Huntington's disease ISO RGD:1320235 D RGD:9068941 20220825 MouseDO OMIM:143100 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:630 genetic disease ISO RGD:1320234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:9120 amyloidosis ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 8724488 Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 gene DOID:987 alopecia ISO RGD:1320234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20548961 8724513 Syt5 synaptotagmin 5 gene DOID:0110936 nemaline myopathy 5A ISO RGD:731962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type PMID:28492532 8724513 Syt5 synaptotagmin 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8724513 Syt5 synaptotagmin 5 gene DOID:630 genetic disease ISO RGD:731962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724526 Rims3 regulating synaptic membrane exocytosis 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8724526 Rims3 regulating synaptic membrane exocytosis 3 gene DOID:630 genetic disease ISO RGD:1347880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724553 Kif20a kinesin family member 20A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1317032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8724553 Kif20a kinesin family member 20A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317032 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8724553 Kif20a kinesin family member 20A gene DOID:0080600 COVID-19 ISO RGD:1317032 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8724553 Kif20a kinesin family member 20A gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1317032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8724553 Kif20a kinesin family member 20A gene DOID:630 genetic disease ISO RGD:1317032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8724553 Kif20a kinesin family member 20A gene DOID:684 hepatocellular carcinoma ISO RGD:1317032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8724553 Kif20a kinesin family member 20A gene DOID:9000303 Familial Restrictive Cardiomyopathy 6 ISO RGD:1317032 D RGD:7240710 20210728 OMIM 8724553 Kif20a kinesin family member 20A gene DOID:9000303 Familial Restrictive Cardiomyopathy 6 ISO RGD:1317032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 PMID:29357359 8724553 Kif20a kinesin family member 20A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8724553 Kif20a kinesin family member 20A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317032 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8724576 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:607 paraplegia ISO RGD:1347578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8724576 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:630 genetic disease ISO RGD:1347578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724576 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:6846 familial melanoma ISO RGD:1347578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8724576 Dtx3 deltex E3 ubiquitin ligase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1347578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 8724632 LOC102008614 cytochrome c oxidase subunit 7A1, mitochondrial gene DOID:0110222 Brugada syndrome 5 ISO RGD:1348243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8724632 LOC102008614 cytochrome c oxidase subunit 7A1, mitochondrial gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1348243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8724632 LOC102008614 cytochrome c oxidase subunit 7A1, mitochondrial gene DOID:12930 dilated cardiomyopathy ISO RGD:1615204 D RGD:9068941 20220825 MouseDO 8724632 LOC102008614 cytochrome c oxidase subunit 7A1, mitochondrial gene DOID:630 genetic disease ISO RGD:1348243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724640 Cracr2b calcium release activated channel regulator 2B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8724640 Cracr2b calcium release activated channel regulator 2B gene DOID:0080773 delta beta-thalassemia ISO RGD:1603869 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8724640 Cracr2b calcium release activated channel regulator 2B gene DOID:0111969 immunodeficiency 39 ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8724640 Cracr2b calcium release activated channel regulator 2B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8724640 Cracr2b calcium release activated channel regulator 2B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8724640 Cracr2b calcium release activated channel regulator 2B gene DOID:630 genetic disease ISO RGD:1603869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724640 Cracr2b calcium release activated channel regulator 2B gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1603869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8724662 Nmrk2 nicotinamide riboside kinase 2 gene DOID:13938 amenorrhea ISO RGD:1344874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8724662 Nmrk2 nicotinamide riboside kinase 2 gene DOID:630 genetic disease ISO RGD:1344874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724705 Nxt2 nuclear transport factor 2 like export factor 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1350653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8724705 Nxt2 nuclear transport factor 2 like export factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8724705 Nxt2 nuclear transport factor 2 like export factor 2 gene DOID:12849 autistic disorder ISO RGD:1350653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8724705 Nxt2 nuclear transport factor 2 like export factor 2 gene DOID:630 genetic disease ISO RGD:1350653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724731 Mtif2 mitochondrial translational initiation factor 2 gene DOID:630 genetic disease ISO RGD:1347555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724762 Ddx5 DEAD-box helicase 5 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1345493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 8724762 Ddx5 DEAD-box helicase 5 gene DOID:289 endometriosis ISO RGD:1345493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8724762 Ddx5 DEAD-box helicase 5 gene DOID:3151 skin squamous cell carcinoma ISO RGD:1345493 D RGD:9068941 20200609 RGD protein:increased expression:foreskin (human) PMID:22548649|REF_RGD_ID:9850272 8724762 Ddx5 DEAD-box helicase 5 gene DOID:630 genetic disease ISO RGD:1345493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724762 Ddx5 DEAD-box helicase 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1345493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8724783 Mapt microtubule associated protein tau gene DOID:0050700 cardiomyopathy ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29068127 8724783 Mapt microtubule associated protein tau gene DOID:0050880 Koolen de Vries syndrome ISO RGD:736496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:25741868|PMID:26467025|PMID:28492532 8724783 Mapt microtubule associated protein tau gene DOID:0050888 syndromic intellectual disability ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 8724783 Mapt microtubule associated protein tau gene DOID:0060224 atrial fibrillation ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8724783 Mapt microtubule associated protein tau gene DOID:0060892 late onset Parkinson's disease ISO RGD:736496 D RGD:7240710 20240308 OMIM 8724783 Mapt microtubule associated protein tau gene DOID:0060892 late onset Parkinson's disease ISO RGD:736496 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:10100642|PMID:10214944|PMID:10219785|PMID:10627302|PMID:10767321|PMID:10821687|PMID:10932182|PMID:11013246|PMID:11115852|PMID:11255441|PMID:11402146|PMID:11756436|PMID:12473404|PMID:15489396|PMID:15831501|PMID:17526496|PMID:19458322|PMID:20561037|PMID:22022446|PMID:22723997|PMID:2273997|PMID:25319522|PMID:25592136|PMID:25741868|PMID:26220942|PMID:26269332|PMID:26467025|PMID:26519432|PMID:27439681|PMID:28268100|PMID:28492532|PMID:30528841|PMID:32843152|PMID:8673924|PMID:9629852|PMID:9641683|PMID:9736786|PMID:9789048 8724783 Mapt microtubule associated protein tau gene DOID:0080855 Parkinsonism ISO RGD:736496 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Parkinsonism 8724783 Mapt microtubule associated protein tau gene DOID:0080855 Parkinsonism treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27228974|REF_RGD_ID:13801017 8724783 Mapt microtubule associated protein tau gene DOID:0081292 traumatic brain injury ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:26484783|PMID:26729399|PMID:28412141|REF_RGD_ID:13800902|REF_RGD_ID:13800909|REF_RGD_ID:13800912 8724783 Mapt microtubule associated protein tau gene DOID:0081292 traumatic brain injury treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:25771151|REF_RGD_ID:13800917 8724783 Mapt microtubule associated protein tau gene DOID:10283 prostate cancer ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8724783 Mapt microtubule associated protein tau gene DOID:1059 intellectual disability ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868|PMID:26467025|PMID:28492532 8724783 Mapt microtubule associated protein tau gene DOID:10652 Alzheimer's disease ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:30279455 8724783 Mapt microtubule associated protein tau gene DOID:10652 Alzheimer's disease no_association ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:rs242557 (human) PMID:19308965|REF_RGD_ID:8158097 8724783 Mapt microtubule associated protein tau gene DOID:10652 Alzheimer's disease onset ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:rs242557 (human) PMID:23116876|REF_RGD_ID:8158105 8724783 Mapt microtubule associated protein tau gene DOID:10652 Alzheimer's disease onset ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R406W(human) PMID:18587238|REF_RGD_ID:10412701 8724783 Mapt microtubule associated protein tau gene DOID:10652 Alzheimer's disease treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27060945|PMID:28342971|REF_RGD_ID:13800904|REF_RGD_ID:13800908 8724783 Mapt microtubule associated protein tau gene DOID:10652 Alzheimer's disease treatment ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:19252918|REF_RGD_ID:10412704 8724783 Mapt microtubule associated protein tau gene DOID:11162 respiratory failure ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14595660 8724783 Mapt microtubule associated protein tau gene DOID:11870 Pick's disease ISO RGD:736496 D RGD:7240710 20240308 OMIM 8724783 Mapt microtubule associated protein tau gene DOID:11870 Pick's disease ISO RGD:736496 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease PMID:10100642|PMID:10214944|PMID:10219785|PMID:10604746|PMID:10627302|PMID:10767321|PMID:10821687|PMID:10932182|PMID:11013246|PMID:11032905|PMID:11115852|PMID:11117542|PMID:11255441|PMID:11402146|PMID:11601501|PMID:11756436|PMID:11891833|PMID:12473404|PMID:15489396|PMID:15831501|PMID:17526496|PMID:18067537|PMID:19458322|PMID:20561037|PMID:22022446|PMID:22723997|PMID:2273997|PMID:23043292|PMID:25319522|PMID:25592136|PMID:25741868|PMID:26220942|PMID:26269332|PMID:26467025|PMID:26519432|PMID:27439681|PMID:27582388|PMID:27641626|PMID:27802239|PMID:28268100|PMID:28492532|PMID:30090657|PMID:30528841|PMID:32843152|PMID:8673924|PMID:9629852|PMID:9641683|PMID:9736786|PMID:9789048 8724783 Mapt microtubule associated protein tau gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736496 D RGD:9068941 20210618 RGD protein:increased expression:CSF, serum (human) PMID:27929120|REF_RGD_ID:127284887 8724783 Mapt microtubule associated protein tau gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736496 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29368621|PMID:30309804|PMID:31541342|REF_RGD_ID:127284880|REF_RGD_ID:127284881|REF_RGD_ID:127284889 8724783 Mapt microtubule associated protein tau gene DOID:1289 neurodegenerative disease ISO RGD:736496 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:9789048 8724783 Mapt microtubule associated protein tau gene DOID:1307 dementia ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dementia PMID:10202939|PMID:10329720|PMID:10443890|PMID:10446810|PMID:11255441|PMID:11402146|PMID:11641718|PMID:11708988|PMID:11912108|PMID:11971081|PMID:11971082|PMID:12847166|PMID:14755449|PMID:15372253|PMID:17923640|PMID:18525295|PMID:19365643|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:23680655|PMID:23885714|PMID:25683866|PMID:25741868|PMID:26136155|PMID:26467025|PMID:27594586|PMID:28097206|PMID:28492532|PMID:7783864|PMID:7936288|PMID:8940276|PMID:9088499|PMID:9392579|PMID:9641683 8724783 Mapt microtubule associated protein tau gene DOID:1307 dementia disease_progression ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:20930301|REF_RGD_ID:10412700 8724783 Mapt microtubule associated protein tau gene DOID:14330 Parkinson's disease ISO RGD:736496 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease PMID:10100642|PMID:10214944|PMID:10219785|PMID:10627302|PMID:10767321|PMID:10821687|PMID:10932182|PMID:11013246|PMID:11115852|PMID:11255441|PMID:11402146|PMID:11756436|PMID:12473404|PMID:15489396|PMID:15831501|PMID:17526496|PMID:19458322|PMID:20561037|PMID:22022446|PMID:22723997|PMID:2273997|PMID:25319522|PMID:25592136|PMID:25741868|PMID:26220942|PMID:26269332|PMID:26467025|PMID:26519432|PMID:27439681|PMID:28268100|PMID:28492532|PMID:30528841|PMID:32843152|PMID:8673924|PMID:9629852|PMID:9641683|PMID:9736786|PMID:9789048 8724783 Mapt microtubule associated protein tau gene DOID:14330 Parkinson's disease susceptibility ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs8070723) (human) PMID:22221882|REF_RGD_ID:8158107 8724783 Mapt microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with Hypothermia PMID:25782579|REF_RGD_ID:13800916 8724783 Mapt microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with Hypoxia PMID:24993525|REF_RGD_ID:13801018 8724783 Mapt microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with Insulin Resistance PMID:24335173|REF_RGD_ID:13800925 8724783 Mapt microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with hypothyroidism PMID:24978200|REF_RGD_ID:13800922 8724783 Mapt microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:69329 D RGD:9068941 20200609 RGD associated with obesity PMID:25683673|REF_RGD_ID:13801008 8724783 Mapt microtubule associated protein tau gene DOID:1561 cognitive disorder ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24556215|PMID:26945731 8724783 Mapt microtubule associated protein tau gene DOID:1561 cognitive disorder treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:24484683|REF_RGD_ID:13800924 8724783 Mapt microtubule associated protein tau gene DOID:1612 breast cancer disease_progression ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:18668363|REF_RGD_ID:8158093 8724783 Mapt microtubule associated protein tau gene DOID:1826 epilepsy treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:28595035|REF_RGD_ID:13800901 8724783 Mapt microtubule associated protein tau gene DOID:2030 anxiety disorder ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29860433 8724783 Mapt microtubule associated protein tau gene DOID:2316 brain ischemia ISO RGD:69329 D RGD:9068941 20200609 RGD protein:increased phosphorylation PMID:15353210|REF_RGD_ID:1599927 8724783 Mapt microtubule associated protein tau gene DOID:3328 temporal lobe epilepsy ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:28595035|REF_RGD_ID:13800901 8724783 Mapt microtubule associated protein tau gene DOID:3525 middle cerebral artery infarction ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:28886009|REF_RGD_ID:13800886 8724783 Mapt microtubule associated protein tau gene DOID:3525 middle cerebral artery infarction ISO RGD:736497 D RGD:9068941 20200609 RGD PMID:28886009|REF_RGD_ID:13800886 8724783 Mapt microtubule associated protein tau gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:25903928|REF_RGD_ID:13800913 8724783 Mapt microtubule associated protein tau gene DOID:4752 multiple system atrophy ISO RGD:736496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple system atrophy PMID:25741868 8724783 Mapt microtubule associated protein tau gene DOID:4990 essential tremor no_association ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:SNP: :rs1052553 (human) PMID:22911817|REF_RGD_ID:8158098 8724783 Mapt microtubule associated protein tau gene DOID:630 genetic disease ISO RGD:736496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10318930|PMID:10624829|PMID:12615641|PMID:15376481|PMID:17071927|PMID:19659892|PMID:25741868|PMID:25937274|PMID:26467025|PMID:27975259|PMID:28492532|PMID:30279455 8724783 Mapt microtubule associated protein tau gene DOID:678 progressive supranuclear palsy ISO RGD:736496 D RGD:7240710 20240308 OMIM 8724783 Mapt microtubule associated protein tau gene DOID:678 progressive supranuclear palsy ISO RGD:736496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1 PMID:10100642|PMID:10214944|PMID:10219785|PMID:10627302|PMID:10767321|PMID:10821687|PMID:10932182|PMID:11013246|PMID:11115852|PMID:11255441|PMID:11402146|PMID:11756436|PMID:12473404|PMID:14595660|PMID:15489396|PMID:15831501|PMID:16157753|PMID:17526496|PMID:19458322|PMID:20561037|PMID:22022446|PMID:22723997|PMID:2273997|PMID:25319522|PMID:25592136|PMID:25741868|PMID:26220942|PMID:26269332|PMID:26467025|PMID:26519432|PMID:27439681|PMID:28268100|PMID:28492532|PMID:30528841|PMID:32843152|PMID:8673924|PMID:9629852|PMID:9641683|PMID:9736786|PMID:9789048 8724783 Mapt microtubule associated protein tau gene DOID:678 progressive supranuclear palsy onset ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:16839689|REF_RGD_ID:8158099 8724783 Mapt microtubule associated protein tau gene DOID:680 tauopathy ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10604746|PMID:11889249|PMID:14595660|PMID:24556215|PMID:27569447 8724783 Mapt microtubule associated protein tau gene DOID:680 tauopathy ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:28721361|REF_RGD_ID:13800888 8724783 Mapt microtubule associated protein tau gene DOID:680 tauopathy treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27998769|REF_RGD_ID:13800905 8724783 Mapt microtubule associated protein tau gene DOID:680 tauopathy treatment ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:22874558|REF_RGD_ID:8158094 8724783 Mapt microtubule associated protein tau gene DOID:684 hepatocellular carcinoma ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8724783 Mapt microtubule associated protein tau gene DOID:8725 vascular dementia treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27118553|REF_RGD_ID:13792766 8724783 Mapt microtubule associated protein tau gene DOID:8927 learning disability ISO RGD:736496 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 8724783 Mapt microtubule associated protein tau gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:22052241|REF_RGD_ID:8158113 8724783 Mapt microtubule associated protein tau gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:736496 D RGD:9068941 20210625 RGD protein:increased expression:CSF, serum (human) PMID:27929120|REF_RGD_ID:127284887 8724783 Mapt microtubule associated protein tau gene DOID:9001366 Psychomotor Agitation ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 8724783 Mapt microtubule associated protein tau gene DOID:9001981 Weight Loss ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 8724783 Mapt microtubule associated protein tau gene DOID:9002644 Premature Aging ISO RGD:736497 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:brain: PMID:16171847|REF_RGD_ID:10412708 8724783 Mapt microtubule associated protein tau gene DOID:9002720 Splenomegaly ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27117003 8724783 Mapt microtubule associated protein tau gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:15494405|REF_RGD_ID:1358431 8724783 Mapt microtubule associated protein tau gene DOID:9002775 Cognitive Dysfunction ISO RGD:736496 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Mental deterioration PMID:10202939|PMID:10329720|PMID:10443890|PMID:10446810|PMID:11255441|PMID:11402146|PMID:11641718|PMID:11708988|PMID:11912108|PMID:11971081|PMID:11971082|PMID:12847166|PMID:14755449|PMID:15372253|PMID:17923640|PMID:18525295|PMID:19365643|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:23680655|PMID:23885714|PMID:25683866|PMID:25741868|PMID:26136155|PMID:26467025|PMID:27594586|PMID:28097206|PMID:28492532|PMID:7783864|PMID:7936288|PMID:8940276|PMID:9088499|PMID:9392579|PMID:9641683 8724783 Mapt microtubule associated protein tau gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:25665755|REF_RGD_ID:13782373 8724783 Mapt microtubule associated protein tau gene DOID:9004657 Weight Gain ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29203278 8724783 Mapt microtubule associated protein tau gene DOID:9004866 Ataxia ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31783120 8724783 Mapt microtubule associated protein tau gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:28400135|REF_RGD_ID:13800903 8724783 Mapt microtubule associated protein tau gene DOID:9005725 Iron Overload treatment ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:27403880|REF_RGD_ID:13800907 8724783 Mapt microtubule associated protein tau gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 8724783 Mapt microtubule associated protein tau gene DOID:9006205 Animal Disease Models ISO RGD:736496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24556215 8724783 Mapt microtubule associated protein tau gene DOID:9007402 Gliosis ISO RGD:736496 D RGD:9068941 20200609 RGD PMID:19155101|REF_RGD_ID:8158112 8724783 Mapt microtubule associated protein tau gene DOID:9008023 Memory Disorders ISO RGD:736496 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:10202939|PMID:10329720|PMID:10443890|PMID:10446810|PMID:11255441|PMID:11402146|PMID:11641718|PMID:11708988|PMID:11912108|PMID:11971081|PMID:11971082|PMID:12847166|PMID:14755449|PMID:15372253|PMID:17923640|PMID:18525295|PMID:19365643|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:23680655|PMID:23885714|PMID:25683866|PMID:25741868|PMID:26136155|PMID:26467025|PMID:27594586|PMID:28097206|PMID:28492532|PMID:7783864|PMID:7936288|PMID:8940276|PMID:9088499|PMID:9392579|PMID:9641683 8724783 Mapt microtubule associated protein tau gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:69329 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:25511986|REF_RGD_ID:13800920 8724783 Mapt microtubule associated protein tau gene DOID:9008534 Progressive Supranuclear Palsy Atypical ISO RGD:736496 D RGD:7240710 20240308 OMIM 8724783 Mapt microtubule associated protein tau gene DOID:9008534 Progressive Supranuclear Palsy Atypical ISO RGD:736496 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Atypical PSP | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1, atypical PMID:10100642|PMID:10214944|PMID:10219785|PMID:10627302|PMID:10767321|PMID:10821687|PMID:10932182|PMID:11013246|PMID:11115852|PMID:11255441|PMID:11402146|PMID:11756436|PMID:12473404|PMID:15489396|PMID:15831501|PMID:17526496|PMID:19458322|PMID:20561037|PMID:22022446|PMID:22723997|PMID:2273997|PMID:25319522|PMID:25592136|PMID:25741868|PMID:26220942|PMID:26269332|PMID:26467025|PMID:26519432|PMID:27439681|PMID:28268100|PMID:28492532|PMID:30528841|PMID:32843152|PMID:8673924|PMID:9629852|PMID:9641683|PMID:9736786|PMID:9789048 8724783 Mapt microtubule associated protein tau gene DOID:9255 frontotemporal dementia ISO RGD:736496 D RGD:7240710 20240308 OMIM 8724783 Mapt microtubule associated protein tau gene DOID:9255 frontotemporal dementia ISO RGD:736496 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:10076890|PMID:10100642|PMID:10202939|PMID:10208578|PMID:10214944|PMID:10219785|PMID:10318930|PMID:10329720|PMID:10374757|PMID:10412802|PMID:10443890|PMID:10446810|PMID:10489057|PMID:10514099|PMID:10553987|PMID:10604746|PMID:10624829|PMID:10627302|PMID:10767321|PMID:10775534|PMID:10797541|PMID:10802785|PMID:10820221|PMID:10821687|PMID:10822460|PMID:10932182|PMID:11013246|PMID:11032905|PMID:11071507|PMID:11102510|PMID:11115852|PMID:11117541|PMID:11117542|PMID:11117553|PMID:11159174|PMID:11255441|PMID:11278002|PMID:11402146|PMID:11456301|PMID:11641718|PMID:11708988|PMID:11756436|PMID:11756496|PMID:11889249|PMID:11891833|PMID:11912108|PMID:11921059|PMID:11971081|PMID:11971082|PMID:12325083|PMID:12368474|PMID:12473404|PMID:12473774|PMID:12509859|PMID:12615641|PMID:12722177|PMID:12796837|PMID:12847166|PMID:12876142|PMID:1416801|PMID:14517953|PMID:14568818|PMID:14755449|PMID:15047590|PMID:15178938|PMID:15178940|PMID:15365985|PMID:15372253|PMID:15376481|PMID:15489396|PMID:15831501|PMID:15883319|PMID:16219306|PMID:16240366|PMID:16416390|PMID:16477083|PMID:16495230|PMID:16495329|PMID:16503405|PMID:17071927|PMID:17526496|PMID:17576681|PMID:17923640|PMID:18067537|PMID:18093153|PMID:18284428|PMID:18525295|PMID:18587238|PMID:18628315|PMID:18803694|PMID:18851693|PMID:18854867|PMID:18992292|PMID:19091059|PMID:19263483|PMID:19304664|PMID:19365643|PMID:19458322|PMID:19659892|PMID:19766248|PMID:19786698|PMID:19884572|PMID:19914360|PMID:20045477|PMID:20377816|PMID:20561037|PMID:20598713|PMID:20634584|PMID:21094706|PMID:21176711|PMID:21339331|PMID:21343707|PMID:21344240|PMID:21558644|PMID:21849646|PMID:22022446|PMID:22118943|PMID:22312439|PMID:22556362|PMID:22595371|PMID:22723997|PMID:2273997|PMID:22787795|PMID:22818528|PMID:22906081|PMID:23043292|PMID:23047372|PMID:23053136|PMID:23105105|PMID:23338682|PMID:23383383|PMID:23518664|PMID:23680655|PMID:23692670|PMID:23727082|PMID:23752245|PMID:23881933|PMID:23885714|PMID:23990795|PMID:24018212|PMID:24081456|PMID:24150109|PMID:25319522|PMID:25466404|PMID:25592136|PMID:25604855|PMID:25617006|PMID:25671699|PMID:25683866|PMID:25741868|PMID:25937274|PMID:25942996|PMID:26028272|PMID:26136155|PMID:26200045|PMID:26220942|PMID:26269332|PMID:26295349|PMID:26297556|PMID:26333800|PMID:26426266|PMID:26467025|PMID:26519432|PMID:26601740|PMID:26931567|PMID:27082848|PMID:27094865|PMID:27439681|PMID:27582388|PMID:27594586|PMID:27606344|PMID:27641626|PMID:27776828|PMID:27802239|PMID:27975259|PMID:28097206|PMID:28130473|PMID:28268100|PMID:28334843|PMID:28462717|PMID:28492532|PMID:28923025|PMID:29091718|PMID:29253099|PMID:29525180|PMID:30090657|PMID:30279455|PMID:30528841|PMID:31059154|PMID:31404212|PMID:31542321|PMID:31836585|PMID:32028661|PMID:32171587|PMID:32843152|PMID:32961270|PMID:33006106|PMID:33580635|PMID:33612544|PMID:33772783|PMID:34274155|PMID:34561610|PMID:35020237|PMID:7783864|PMID:7936288|PMID:7977375|PMID:8673924|PMID:8926492|PMID:8940276|PMID:9088499|PMID:9382467|PMID:9392579|PMID:9536098|PMID:9629852|PMID:9636220|PMID:9641683|PMID:9736786|PMID:9789048|PMID:9824291|PMID:9973279 8724783 Mapt microtubule associated protein tau gene DOID:9255 frontotemporal dementia no_association ISO RGD:736496 D RGD:9068941 20200609 RGD DNA:haplotype PMID:17386961|REF_RGD_ID:8158108 8724783 Mapt microtubule associated protein tau gene DOID:9970 obesity ISO RGD:69329 D RGD:9068941 20200609 RGD PMID:25257559|REF_RGD_ID:13800921 8724809 Pou2af2 POU class 2 homeobox associating factor 2 gene DOID:1059 intellectual disability ISO RGD:1605809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8724809 Pou2af2 POU class 2 homeobox associating factor 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1605809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8724809 Pou2af2 POU class 2 homeobox associating factor 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8724820 Saxo5 stabilizer of axonemal microtubules 5 gene DOID:0080490 mucolipidosis type IV ISO RGD:1602810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8724820 Saxo5 stabilizer of axonemal microtubules 5 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1602810 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 8724839 Cks2 CDC28 protein kinase regulatory subunit 2 gene DOID:0080600 COVID-19 ISO RGD:1348782 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8724839 Cks2 CDC28 protein kinase regulatory subunit 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1348782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8724839 Cks2 CDC28 protein kinase regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1348782 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724846 Flot2 flotillin 2 gene DOID:630 genetic disease ISO RGD:735666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724873 CUNH17orf50 chromosome unknown C17orf50 homolog gene DOID:630 genetic disease ISO RGD:1603574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724889 Olig3 oligodendrocyte transcription factor 3 gene DOID:630 genetic disease ISO RGD:1314358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724889 Olig3 oligodendrocyte transcription factor 3 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1314358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 8724889 Olig3 oligodendrocyte transcription factor 3 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1314358 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8724894 Slc43a2 solute carrier family 43 member 2 gene DOID:630 genetic disease ISO RGD:1350504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724894 Slc43a2 solute carrier family 43 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8724917 Nelfa negative elongation factor complex member A gene DOID:1856 cherubism ISO RGD:1313651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8724917 Nelfa negative elongation factor complex member A gene DOID:630 genetic disease ISO RGD:1313651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724933 Crnkl1 crooked neck pre-mRNA splicing factor 1 gene DOID:1909 melanoma ISO RGD:733946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 8724933 Crnkl1 crooked neck pre-mRNA splicing factor 1 gene DOID:2513 basal cell carcinoma ISO RGD:733946 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S128F (human) PMID:23774526|REF_RGD_ID:9850250 8724933 Crnkl1 crooked neck pre-mRNA splicing factor 1 gene DOID:630 genetic disease ISO RGD:733946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724933 Crnkl1 crooked neck pre-mRNA splicing factor 1 gene DOID:8923 skin melanoma ISO RGD:733946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 8724955 Mark1 microtubule affinity regulating kinase 1 gene DOID:0050439 Usher syndrome ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 8724955 Mark1 microtubule affinity regulating kinase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8724955 Mark1 microtubule affinity regulating kinase 1 gene DOID:12849 autistic disorder ISO RGD:732241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492799 8724955 Mark1 microtubule affinity regulating kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8724955 Mark1 microtubule affinity regulating kinase 1 gene DOID:630 genetic disease ISO RGD:732241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8724955 Mark1 microtubule affinity regulating kinase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8724955 Mark1 microtubule affinity regulating kinase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:732241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 8724955 Mark1 microtubule affinity regulating kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8724977 Gad1 glutamate decarboxylase 1 gene DOID:0050562 West syndrome ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:22662185|PMID:28492532 8724977 Gad1 glutamate decarboxylase 1 gene DOID:0050741 alcohol dependence onset ISO RGD:730853 D RGD:9068941 20231109 RGD DNA:SNPs: haplotype:multiple:rs1978340(human) PMID:19111404|REF_RGD_ID:401900129 8724977 Gad1 glutamate decarboxylase 1 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:730853 D RGD:9068941 20231109 RGD DNA:SNPs, haplotype:5'UTR,IVS:Rs3749034,Rs2270335,Rs10439259(human) PMID:17067345|REF_RGD_ID:401900127 8724977 Gad1 glutamate decarboxylase 1 gene DOID:0060001 withdrawal disorder severity ISO RGD:730853 D RGD:9068941 20231109 RGD associated with alcohol dependence;DNA:haplotype: : PMID:19111404|REF_RGD_ID:401900129 8724977 Gad1 glutamate decarboxylase 1 gene DOID:0060001 withdrawal disorder sexual_dimorphism ISO RGD:2652 D RGD:9068941 20231109 RGD in female only, associated with alcohol dependence:protein:increased expression:cerebral cortex,hippocampus PMID:15976529|REF_RGD_ID:1643202 8724977 Gad1 glutamate decarboxylase 1 gene DOID:0060041 autism spectrum disorder sexual_dimorphism ISO RGD:2652 D RGD:9068941 20231116 RGD PMID:27353514|REF_RGD_ID:401900600 8724977 Gad1 glutamate decarboxylase 1 gene DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 ISO RGD:730853 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT PMID:25741868 8724977 Gad1 glutamate decarboxylase 1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin B6-dependent seizures PMID:25741868 8724977 Gad1 glutamate decarboxylase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:730853 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8724977 Gad1 glutamate decarboxylase 1 gene DOID:0112223 developmental and epileptic encephalopathy 89 ISO RGD:730853 D RGD:7240710 20201223 OMIM 8724977 Gad1 glutamate decarboxylase 1 gene DOID:0112223 developmental and epileptic encephalopathy 89 ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 89 PMID:25741868|PMID:28492532|PMID:32282878|PMID:32705143|PMID:33146701 8724977 Gad1 glutamate decarboxylase 1 gene DOID:10763 hypertension ISO RGD:730853 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32165127 8724977 Gad1 glutamate decarboxylase 1 gene DOID:10970 spastic quadriplegic cerebral palsy ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy spastic quadriplegic 8724977 Gad1 glutamate decarboxylase 1 gene DOID:12700 hyperprolactinemia ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7138674 8724977 Gad1 glutamate decarboxylase 1 gene DOID:12849 autistic disorder ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17918742 8724977 Gad1 glutamate decarboxylase 1 gene DOID:1470 major depressive disorder ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 8724977 Gad1 glutamate decarboxylase 1 gene DOID:1742 drug psychosis ISO RGD:2652 D RGD:9068941 20231109 RGD protein:decreased expression:prefrontal cortex PMID:24200867|REF_RGD_ID:401900162 8724977 Gad1 glutamate decarboxylase 1 gene DOID:1742 drug psychosis susceptibility ISO RGD:730853 D RGD:9068941 20231109 RGD associated with amphetamine abuse; DNA:haplotype: :rs769404���rs701492(human) PMID:27967329|REF_RGD_ID:401900122 8724977 Gad1 glutamate decarboxylase 1 gene DOID:1826 epilepsy ISO RGD:2652 D RGD:9068941 20231116 RGD PMID:14620876|REF_RGD_ID:401900594 8724977 Gad1 glutamate decarboxylase 1 gene DOID:2030 anxiety disorder susceptibility ISO RGD:730853 D RGD:9068941 20200609 RGD DNA:snp(s) PMID:22328461|REF_RGD_ID:6480264 8724977 Gad1 glutamate decarboxylase 1 gene DOID:224 transient cerebral ischemia disease_progression ISO RGD:2652 D RGD:9068941 20231116 RGD PMID:20659561|REF_RGD_ID:401900597 8724977 Gad1 glutamate decarboxylase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 8724977 Gad1 glutamate decarboxylase 1 gene DOID:2560 morphine dependence ISO RGD:2652 D RGD:9068941 20231109 RGD mRNA:increased expression:dentate gyrus granule cell layer PMID:15673448|REF_RGD_ID:401900167 8724977 Gad1 glutamate decarboxylase 1 gene DOID:3312 bipolar disorder ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 8724977 Gad1 glutamate decarboxylase 1 gene DOID:3312 bipolar disorder ISO RGD:730853 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex layers 2-5 PMID:18534564|REF_RGD_ID:6480428 8724977 Gad1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956|PMID:17942719|PMID:18923069|PMID:19110320 8724977 Gad1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia ISO RGD:730853 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex layers 2-5 PMID:18534564|REF_RGD_ID:6480428 8724977 Gad1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia ISO RGD:730853 D RGD:9068941 20200609 RGD protein:increased expression:posterior subiculum, parahippocampal gyrus PMID:21250934|REF_RGD_ID:6480427 8724977 Gad1 glutamate decarboxylase 1 gene DOID:5419 schizophrenia no_association ISO RGD:730853 D RGD:9068941 20200609 RGD DNA:snp(s)::Japanese population PMID:17303389|REF_RGD_ID:6480430 8724977 Gad1 glutamate decarboxylase 1 gene DOID:630 genetic disease ISO RGD:730853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8724977 Gad1 glutamate decarboxylase 1 gene DOID:670 amphetamine abuse susceptibility ISO RGD:730853 D RGD:9068941 20231109 RGD DNA:haplotype: :rs769404���rs701492(human) PMID:27967329|REF_RGD_ID:401900122 8724977 Gad1 glutamate decarboxylase 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2652 D RGD:9068941 20231230 RGD PMID:22428005|REF_RGD_ID:401940127 8724977 Gad1 glutamate decarboxylase 1 gene DOID:9004548 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities ISO RGD:730853 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities PMID:15571623|PMID:16199547|PMID:17576681|PMID:22662185|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32282878|PMID:32705143|PMID:33634263|PMID:9084927|PMID:9536098 8724977 Gad1 glutamate decarboxylase 1 gene DOID:9004798 Drug Resistant Epilepsy ISO RGD:730853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intractable epilepsy PMID:25741868 8724977 Gad1 glutamate decarboxylase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 8724977 Gad1 glutamate decarboxylase 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:730853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9767399 8724977 Gad1 glutamate decarboxylase 1 gene DOID:9256 colorectal cancer severity ISO RGD:730853 D RGD:9068941 20220217 RGD mRNA:increased expression:colon (human) PMID:26549033|REF_RGD_ID:151356759 8724977 Gad1 glutamate decarboxylase 1 gene DOID:9351 diabetes mellitus ISO RGD:2652 D RGD:9068941 20200609 RGD PMID:1924335|REF_RGD_ID:728511 8724977 Gad1 glutamate decarboxylase 1 gene DOID:9975 cocaine dependence ISO RGD:730853 D RGD:9068941 20231109 RGD mRNA:decreased expression:hippocampus PMID:22253714|REF_RGD_ID:401900163 8724977 Gad1 glutamate decarboxylase 1 gene DOID:9976 heroin dependence susceptibility ISO RGD:730853 D RGD:9068941 20231109 RGD DNA:SNP,haplotype: :rs2058725(human) PMID:19500151|REF_RGD_ID:5509583 8724977 Gad1 glutamate decarboxylase 1 gene DOID:9976 heroin dependence susceptibility ISO RGD:730853 D RGD:9068941 20231109 RGD DNA:SNPs,haplotypes:promoter,exon:rs1978340, rs3791878, rs11542313 (human) PMID:22564729|REF_RGD_ID:401900156 8724977 Gad1 glutamate decarboxylase 1 gene DOID:9976 heroin dependence treatment ISO RGD:730853 D RGD:9068941 20231109 RGD DNA:SNPs, haplotype:multiple: PMID:31866536|REF_RGD_ID:401900128 8724999 Naa11 N-alpha-acetyltransferase 11, NatA catalytic subunit gene DOID:630 genetic disease ISO RGD:1625645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725008 Slc25a19 solute carrier family 25 member 19 gene DOID:10907 microcephaly ISO RGD:1343771 D RGD:9068941 20200609 RGD Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A PMID:12185364|REF_RGD_ID:1624242 8725008 Slc25a19 solute carrier family 25 member 19 gene DOID:630 genetic disease ISO RGD:1343771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8725008 Slc25a19 solute carrier family 25 member 19 gene DOID:9004450 Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) ISO RGD:1343771 D RGD:7240710 20180130 OMIM 8725008 Slc25a19 solute carrier family 25 member 19 gene DOID:9004450 Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) ISO RGD:1343771 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY | ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy PMID:18414213|PMID:19798730|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31295743|PMID:31506564|PMID:34587972|PMID:35102031 8725008 Slc25a19 solute carrier family 25 member 19 gene DOID:9006375 Amish Lethal Microcephaly ISO RGD:1343771 D RGD:7240710 20180130 OMIM 8725008 Slc25a19 solute carrier family 25 member 19 gene DOID:9006375 Amish Lethal Microcephaly ISO RGD:1343771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE) PMID:12185364|PMID:18414213|PMID:19798730|PMID:25741868|PMID:26467025|PMID:28492532 8725027 Tead4 TEA domain transcription factor 4 gene DOID:630 genetic disease ISO RGD:1605719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725027 Tead4 TEA domain transcription factor 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8725054 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1350921 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8725054 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1350921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8725054 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:0111546 Currarino syndrome ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8725054 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:12849 autistic disorder ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532|PMID:31104773 8725054 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1350921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8725054 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:9000911 Autosomal Dominant Intellectual Developmental Disorder 60 ISO RGD:1350921 D RGD:7240710 20191002 OMIM 8725054 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:9000911 Autosomal Dominant Intellectual Developmental Disorder 60 ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 60 with seizures PMID:25741868|PMID:28492532|PMID:31104773 8725054 Ap2m1 adaptor related protein complex 2 subunit mu 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8725080 Nfatc4 nuclear factor of activated T cells 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1321836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8725080 Nfatc4 nuclear factor of activated T cells 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1321836 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G160A (human) PMID:12939651|REF_RGD_ID:1580248 8725080 Nfatc4 nuclear factor of activated T cells 4 gene DOID:630 genetic disease ISO RGD:1321836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725080 Nfatc4 nuclear factor of activated T cells 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1321836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8725080 Nfatc4 nuclear factor of activated T cells 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1321836 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:9568714|REF_RGD_ID:1579956 8725080 Nfatc4 nuclear factor of activated T cells 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8725080 Nfatc4 nuclear factor of activated T cells 4 gene DOID:9005968 Neuralgia treatment ISO RGD:1310749 D RGD:9068941 20230427 RGD PMID:23386250|REF_RGD_ID:329337338 8725080 Nfatc4 nuclear factor of activated T cells 4 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1321836 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:9568714|REF_RGD_ID:1579956 8725080 Nfatc4 nuclear factor of activated T cells 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321836 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:34192554 8725099 Dbn1 drebrin 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:732725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8725099 Dbn1 drebrin 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:732725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8725099 Dbn1 drebrin 1 gene DOID:10652 Alzheimer's disease ISO RGD:732725 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampal formation: PMID:8838578|REF_RGD_ID:10395286 8725099 Dbn1 drebrin 1 gene DOID:10652 Alzheimer's disease ISO RGD:737436 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus,neuronal spine: PMID:17912741|REF_RGD_ID:10398820 8725099 Dbn1 drebrin 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:732725 D RGD:9068941 20200609 RGD mRNA:decreased expression:parietal cortex, temporal cortex, hippocampus: PMID:18338803|REF_RGD_ID:10398821 8725099 Dbn1 drebrin 1 gene DOID:11446 sciatic neuropathy ISO RGD:70885 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:11578820|REF_RGD_ID:10398813 8725099 Dbn1 drebrin 1 gene DOID:14250 Down syndrome ISO RGD:732725 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex, temporal cortex: PMID:12009525|REF_RGD_ID:10398822 8725099 Dbn1 drebrin 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:70885 D RGD:9068941 20200609 RGD levodopainduced; protein:increased expression:striatum: PMID:23241013|REF_RGD_ID:10398811 8725099 Dbn1 drebrin 1 gene DOID:14748 Sotos syndrome ISO RGD:732725 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8725099 Dbn1 drebrin 1 gene DOID:1561 cognitive disorder ISO RGD:70885 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:21440628|REF_RGD_ID:10398818 8725099 Dbn1 drebrin 1 gene DOID:1561 cognitive disorder ISO RGD:732725 D RGD:9068941 20200609 RGD protein:altered expression:superior temporal cortex, superior temporal cortex: PMID:16783169|REF_RGD_ID:10398823 8725099 Dbn1 drebrin 1 gene DOID:224 transient cerebral ischemia ISO RGD:70885 D RGD:9068941 20200609 RGD PMID:8583659|REF_RGD_ID:10398814 8725099 Dbn1 drebrin 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:70885 D RGD:9068941 20200609 RGD mRNA,protein:altered expression:hippocampus: PMID:21240918|REF_RGD_ID:10398806 8725099 Dbn1 drebrin 1 gene DOID:630 genetic disease ISO RGD:732725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725099 Dbn1 drebrin 1 gene DOID:8927 learning disability ISO RGD:737436 D RGD:9068941 20200609 RGD PMID:19837137|REF_RGD_ID:10398819 8725099 Dbn1 drebrin 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8725099 Dbn1 drebrin 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:70885 D RGD:9068941 20200609 RGD levodopainduced; protein:increased expression:striatum: PMID:23241013|REF_RGD_ID:10398811 8725117 Rftn1 raftlin, lipid raft linker 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1604380 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8725117 Rftn1 raftlin, lipid raft linker 1 gene DOID:1686 glaucoma ISO RGD:1563347 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (rat) PMID:28990066|REF_RGD_ID:155630605 8725117 Rftn1 raftlin, lipid raft linker 1 gene DOID:1686 glaucoma ISO RGD:1604380 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 8725117 Rftn1 raftlin, lipid raft linker 1 gene DOID:630 genetic disease ISO RGD:1604380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725136 Ankrd34a ankyrin repeat domain 34A gene DOID:0111027 hemochromatosis type 2A ISO RGD:1347090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:28492532 8725136 Ankrd34a ankyrin repeat domain 34A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1347090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 8725136 Ankrd34a ankyrin repeat domain 34A gene DOID:1540 parathyroid carcinoma ISO RGD:1347090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8725136 Ankrd34a ankyrin repeat domain 34A gene DOID:5419 schizophrenia ISO RGD:1347090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8725136 Ankrd34a ankyrin repeat domain 34A gene DOID:630 genetic disease ISO RGD:1347090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725136 Ankrd34a ankyrin repeat domain 34A gene DOID:9008939 Breast Neoplasms ISO RGD:1347090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8725136 Ankrd34a ankyrin repeat domain 34A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8725146 Spef1 sperm flagellar 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1322632 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8725146 Spef1 sperm flagellar 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1322632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8725146 Spef1 sperm flagellar 1 gene DOID:630 genetic disease ISO RGD:1322632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725146 Spef1 sperm flagellar 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1322632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8725157 Cenpq centromere protein Q gene DOID:630 genetic disease ISO RGD:1344338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725170 Tesk2 testis associated actin remodelling kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8725170 Tesk2 testis associated actin remodelling kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8725170 Tesk2 testis associated actin remodelling kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8725170 Tesk2 testis associated actin remodelling kinase 2 gene DOID:630 genetic disease ISO RGD:734237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725192 Ttc24 tetratricopeptide repeat domain 24 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8725192 Ttc24 tetratricopeptide repeat domain 24 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8725192 Ttc24 tetratricopeptide repeat domain 24 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8725192 Ttc24 tetratricopeptide repeat domain 24 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8725192 Ttc24 tetratricopeptide repeat domain 24 gene DOID:1540 parathyroid carcinoma ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8725192 Ttc24 tetratricopeptide repeat domain 24 gene DOID:5812 MHC class II deficiency ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8725192 Ttc24 tetratricopeptide repeat domain 24 gene DOID:630 genetic disease ISO RGD:1602975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725192 Ttc24 tetratricopeptide repeat domain 24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8725206 Lrrc30 leucine rich repeat containing 30 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1343727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8725206 Lrrc30 leucine rich repeat containing 30 gene DOID:1059 intellectual disability ISO RGD:1343727 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8725206 Lrrc30 leucine rich repeat containing 30 gene DOID:630 genetic disease ISO RGD:1343727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725212 Sugp2 SURP and G-patch domain containing 2 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1314432 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 8725212 Sugp2 SURP and G-patch domain containing 2 gene DOID:630 genetic disease ISO RGD:1314432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725212 Sugp2 SURP and G-patch domain containing 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1314432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348839 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:30192042 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:0110661 congenital myasthenic syndrome 20 ISO RGD:1348839 D RGD:7240710 20190315 OMIM 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:0110661 congenital myasthenic syndrome 20 ISO RGD:1348839 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 20 PMID:25741868|PMID:27569547|PMID:28492532|PMID:33250374|PMID:36703223 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 ISO RGD:1348839 D RGD:7240710 20180130 OMIM 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:11294660|PMID:16199547|PMID:17576681|PMID:23141292|PMID:25741868|PMID:27569547|PMID:28492532|PMID:7420092|PMID:9536098 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1348839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:10283 prostate cancer ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11294660|PMID:23141292|PMID:7420092 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:12377 spinal muscular atrophy ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:1470 major depressive disorder ISO RGD:1348839 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:1596 depressive disorder ISO RGD:1348839 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:2841 asthma ISO RGD:69270 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17328924|REF_RGD_ID:5686690 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1348839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:630 genetic disease ISO RGD:1348839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27569547|PMID:28492532|PMID:9536098 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1348839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 8725229 Slc5a7 solute carrier family 5 member 7 gene DOID:9004283 Transplant Rejection ISO RGD:69270 D RGD:9068941 20200609 RGD protein:increased expression:kidney, mononuclear cell PMID:19201987|REF_RGD_ID:9999387 8725240 Usp32 ubiquitin specific peptidase 32 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315395 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8725240 Usp32 ubiquitin specific peptidase 32 gene DOID:11372 megacolon ISO RGD:1315395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8725240 Usp32 ubiquitin specific peptidase 32 gene DOID:4001 ovarian carcinoma ISO RGD:1315395 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 8725240 Usp32 ubiquitin specific peptidase 32 gene DOID:630 genetic disease ISO RGD:1315395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725278 Kif21b kinesin family member 21B gene DOID:0050453 lissencephaly ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pachygyria PMID:25741868 8725278 Kif21b kinesin family member 21B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1343896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8725278 Kif21b kinesin family member 21B gene DOID:1540 parathyroid carcinoma ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8725278 Kif21b kinesin family member 21B gene DOID:2843 long QT syndrome ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8725278 Kif21b kinesin family member 21B gene DOID:630 genetic disease ISO RGD:1343896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725278 Kif21b kinesin family member 21B gene DOID:8577 ulcerative colitis ISO RGD:1343896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 8725278 Kif21b kinesin family member 21B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1343896 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8725278 Kif21b kinesin family member 21B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343896 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KIF21B-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32415109 8725278 Kif21b kinesin family member 21B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8725329 Golph3l golgi phosphoprotein 3 like gene DOID:0111940 immunodeficiency 42 ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8725329 Golph3l golgi phosphoprotein 3 like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8725329 Golph3l golgi phosphoprotein 3 like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8725329 Golph3l golgi phosphoprotein 3 like gene DOID:1540 parathyroid carcinoma ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8725329 Golph3l golgi phosphoprotein 3 like gene DOID:5812 MHC class II deficiency ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8725329 Golph3l golgi phosphoprotein 3 like gene DOID:630 genetic disease ISO RGD:1347625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725329 Golph3l golgi phosphoprotein 3 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8725341 Qtrt1 queuine tRNA-ribosyltransferase catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:732681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725364 Irx5 iroquois homeobox 5 gene DOID:0050642 hypochromic microcytic anemia ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 8725364 Irx5 iroquois homeobox 5 gene DOID:0081044 frontonasal dysplasia ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 8725364 Irx5 iroquois homeobox 5 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1320389 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17558409|PMID:28492532 8725364 Irx5 iroquois homeobox 5 gene DOID:10003 sensorineural hearing loss ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 8725364 Irx5 iroquois homeobox 5 gene DOID:11830 myopia ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 8725364 Irx5 iroquois homeobox 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320389 D RGD:9068941 20230706 RGD mRNA:increased expression:heart left ventricle (human) PMID:16753336|REF_RGD_ID:329950575 8725364 Irx5 iroquois homeobox 5 gene DOID:13714 anodontia ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 8725364 Irx5 iroquois homeobox 5 gene DOID:1400 lacrimal apparatus disease ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 8725364 Irx5 iroquois homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 8725364 Irx5 iroquois homeobox 5 gene DOID:630 genetic disease ISO RGD:1320389 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8725364 Irx5 iroquois homeobox 5 gene DOID:850 lung disease ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 8725364 Irx5 iroquois homeobox 5 gene DOID:9002589 Bone Fractures ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 8725364 Irx5 iroquois homeobox 5 gene DOID:9006817 Hamamy Syndrome ISO RGD:1320389 D RGD:7240710 20180130 OMIM 8725364 Irx5 iroquois homeobox 5 gene DOID:9006817 Hamamy Syndrome ISO RGD:1320389 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hamamy syndrome PMID:17230486|PMID:22581230|PMID:25741868|PMID:28492532|PMID:34899143 8725364 Irx5 iroquois homeobox 5 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581230 8725372 Samd10 sterile alpha motif domain containing 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8725372 Samd10 sterile alpha motif domain containing 10 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1351691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8725372 Samd10 sterile alpha motif domain containing 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8725372 Samd10 sterile alpha motif domain containing 10 gene DOID:630 genetic disease ISO RGD:1351691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725381 Coro7 coronin 7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8725381 Coro7 coronin 7 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1351326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8725381 Coro7 coronin 7 gene DOID:1826 epilepsy ISO RGD:1351326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8725381 Coro7 coronin 7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351326 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8725381 Coro7 coronin 7 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1351326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8725381 Coro7 coronin 7 gene DOID:630 genetic disease ISO RGD:1351326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725381 Coro7 coronin 7 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1351326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 8725421 Dop1a DOP1 leucine zipper like protein A gene DOID:0080545 hyper IgE syndrome ISO RGD:1313616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:24698316 8725421 Dop1a DOP1 leucine zipper like protein A gene DOID:0111953 immunodeficiency 23 ISO RGD:1313616 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:14981714|PMID:17548465|PMID:17576681|PMID:24033266|PMID:24589341|PMID:24698316|PMID:24931394|PMID:25741868|PMID:28492532|PMID:33098103|PMID:35040011|PMID:9536098 8725421 Dop1a DOP1 leucine zipper like protein A gene DOID:627 severe combined immunodeficiency ISO RGD:1313616 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:17548465|PMID:24033266|PMID:24589341|PMID:24931394|PMID:25741868|PMID:28492532|PMID:35040011 8725421 Dop1a DOP1 leucine zipper like protein A gene DOID:630 genetic disease ISO RGD:1313616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8725473 F5 coagulation factor V gene DOID:0050424 familial adenomatous polyposis ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 8725473 F5 coagulation factor V gene DOID:0050860 colorectal adenoma ISO RGD:1344593 D RGD:9068941 20210115 RGD protein:increased expression:serum PMID:30971492|REF_RGD_ID:40907058 8725473 F5 coagulation factor V gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R506Q (1691G>A) (human) PMID:15043529|REF_RGD_ID:7394764 8725473 F5 coagulation factor V gene DOID:0060903 thrombosis ISO RGD:1344593 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 8725473 F5 coagulation factor V gene DOID:0080600 COVID-19 ISO RGD:1344593 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8725473 F5 coagulation factor V gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1344593 D RGD:7240710 20240313 OMIM 8725473 F5 coagulation factor V gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1344593 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary Resistance to Activated Protein C | ClinVar Annotator: match by term: Thrombophilia due to activated protein C resistance PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:11950065|PMID:12069454|PMID:12070000|PMID:12421138|PMID:12816860|PMID:14617013|PMID:14695241|PMID:14996674|PMID:15208046|PMID:15534175|PMID:15638861|PMID:15946211|PMID:16246256|PMID:16493002|PMID:16769590|PMID:16931580|PMID:19486170|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:22992668|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:28750087|PMID:31064749|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:7968118|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9454742|PMID:9459326|PMID:9518910|PMID:9734642|PMID:9746807 8725473 F5 coagulation factor V gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:11950065|PMID:12816860|PMID:16246256|PMID:19486170|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 8725473 F5 coagulation factor V gene DOID:10003 sensorineural hearing loss ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation PMID:16015153|REF_RGD_ID:7387260 8725473 F5 coagulation factor V gene DOID:10003 sensorineural hearing loss no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNP: :1691G>A (human) PMID:16572609|REF_RGD_ID:7387240 8725473 F5 coagulation factor V gene DOID:10283 prostate cancer ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8725473 F5 coagulation factor V gene DOID:10487 Hirschsprung's disease ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8725473 F5 coagulation factor V gene DOID:10591 pre-eclampsia severity ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation: :1691G>A(human) PMID:16246971|REF_RGD_ID:6893628 8725473 F5 coagulation factor V gene DOID:10762 portal hypertension ISO RGD:10557 D RGD:9068941 20200609 RGD associated with Acute Hepatitis;protein:decreased expression:serum (human) PMID:2777210|REF_RGD_ID:14700665 8725473 F5 coagulation factor V gene DOID:10762 portal hypertension ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with Acute Hepatitis;protein:decreased expression:serum (human) PMID:2777210|REF_RGD_ID:14700665 8725473 F5 coagulation factor V gene DOID:10762 portal hypertension ISO RGD:1589758 D RGD:9068941 20200609 RGD associated with Acute Hepatitis;protein:decreased expression:serum (human) PMID:2777210|REF_RGD_ID:14700665 8725473 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome ISO RGD:1344593 D RGD:7240710 20240313 OMIM 8725473 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Budd-Chiari syndrome PMID:11950065|PMID:16246256|PMID:19486170|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 8725473 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome disease_progression ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:R506Q (human) PMID:26238013|REF_RGD_ID:11537993 8725473 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome severity ISO RGD:1344593 D RGD:9068941 20200609 RGD Factor V Leiden;DNA:missense mutation:cds:G1691A (human) PMID:29771426|REF_RGD_ID:14700660 8725473 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome severity ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human) PMID:16825912|REF_RGD_ID:14700661 8725473 F5 coagulation factor V gene DOID:11512 Budd-Chiari syndrome susceptibility ISO RGD:1344593 D RGD:9068941 20240314 RGD DNA:missense mutation:cds:R506Q (human) PMID:9245936|REF_RGD_ID:15036813 8725473 F5 coagulation factor V gene DOID:1247 blood coagulation disease ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17721328 8725473 F5 coagulation factor V gene DOID:13241 Behcet's disease no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation: :1691G>A (human) PMID:15077257|REF_RGD_ID:7394769 8725473 F5 coagulation factor V gene DOID:1540 parathyroid carcinoma ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8725473 F5 coagulation factor V gene DOID:1612 breast cancer ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:25407022|REF_RGD_ID:10449101 8725473 F5 coagulation factor V gene DOID:1612 breast cancer no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6025 (human) PMID:25407022|REF_RGD_ID:10449101 8725473 F5 coagulation factor V gene DOID:1727 retinal vein occlusion ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12022286 8725473 F5 coagulation factor V gene DOID:1727 retinal vein occlusion ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human) PMID:10511031|REF_RGD_ID:7394767 8725473 F5 coagulation factor V gene DOID:1727 retinal vein occlusion no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNP:cds:1691G>A (human) PMID:10634550|REF_RGD_ID:7394773 8725473 F5 coagulation factor V gene DOID:1727 retinal vein occlusion onset ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:1691G>A (human) PMID:16113792|REF_RGD_ID:7394778 8725473 F5 coagulation factor V gene DOID:2213 hemorrhagic disease ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501 8725473 F5 coagulation factor V gene DOID:2216 factor V deficiency ISO RGD:1344593 D RGD:7240710 20240313 OMIM 8725473 F5 coagulation factor V gene DOID:2216 factor V deficiency ISO RGD:1344593 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Factor V deficiency | ClinVar Annotator: match by term: LABILE FACTOR DEFICIENCY | ClinVar Annotator: match by term: PARAHEMOPHILIA PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:10942390|PMID:11018168|PMID:11110695|PMID:11418372|PMID:11435304|PMID:11564077|PMID:11686338|PMID:11781258|PMID:11950065|PMID:12069454|PMID:12070000|PMID:12393490|PMID:12421138|PMID:12816860|PMID:14511309|PMID:14996674|PMID:15208046|PMID:15534175|PMID:15638861|PMID:15735820|PMID:15946211|PMID:16199547|PMID:16246256|PMID:16476093|PMID:16493002|PMID:16769590|PMID:16931580|PMID:17145618|PMID:18788609|PMID:19052695|PMID:19486170|PMID:19652888|PMID:19900106|PMID:20051284|PMID:20510101|PMID:20735394|PMID:21116184|PMID:21774968|PMID:22044617|PMID:22704462|PMID:22992668|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:24517203|PMID:24787990|PMID:24893683|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26709270|PMID:26990548|PMID:27090446|PMID:27797270|PMID:28492532|PMID:28750087|PMID:29082580|PMID:30924984|PMID:31064749|PMID:31268865|PMID:31399523|PMID:32000417|PMID:32219828|PMID:32833806|PMID:32851759|PMID:33769317|PMID:33858044|PMID:33979974|PMID:34280927|PMID:34355501|PMID:34575869|PMID:35946468|PMID:37150682|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:7968118|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9488630|PMID:9518910|PMID:9694743|PMID:9734642|PMID:9746807 8725473 F5 coagulation factor V gene DOID:2237 hepatitis severity ISO RGD:10557 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:15340576|REF_RGD_ID:14700682 8725473 F5 coagulation factor V gene DOID:2237 hepatitis severity ISO RGD:1344593 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:15340576|REF_RGD_ID:14700682 8725473 F5 coagulation factor V gene DOID:2237 hepatitis severity ISO RGD:1589758 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:15340576|REF_RGD_ID:14700682 8725473 F5 coagulation factor V gene DOID:2237 hepatitis treatment ISO RGD:1344593 D RGD:9068941 20200609 RGD protein:increased expression (human) PMID:1903342|REF_RGD_ID:14700657 8725473 F5 coagulation factor V gene DOID:2316 brain ischemia ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 8725473 F5 coagulation factor V gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:15172885|REF_RGD_ID:1601118 8725473 F5 coagulation factor V gene DOID:3526 cerebral infarction ISO RGD:1344593 D RGD:7240710 20240313 OMIM 8725473 F5 coagulation factor V gene DOID:3526 cerebral infarction ISO RGD:1344593 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Ischemic stroke, susceptibility to PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12069454|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15208046|PMID:15534175|PMID:15638861|PMID:15946211|PMID:16493002|PMID:16769590|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:22992668|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:28750087|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:7968118|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 8725473 F5 coagulation factor V gene DOID:3576 sagittal sinus thrombosis ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18382986 8725473 F5 coagulation factor V gene DOID:3770 pulmonary fibrosis severity ISO RGD:10557 D RGD:9068941 20200609 RGD PMID:11307811|REF_RGD_ID:11564339 8725473 F5 coagulation factor V gene DOID:5082 liver cirrhosis ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18485088 8725473 F5 coagulation factor V gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:10520855|REF_RGD_ID:14700663 8725473 F5 coagulation factor V gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with liver fibrosis, Factor V Leiden;DNA:missense mutation:cds:rs6025 (human) PMID:26226452|REF_RGD_ID:14700659 8725473 F5 coagulation factor V gene DOID:5844 myocardial infarction ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9531249 8725473 F5 coagulation factor V gene DOID:5844 myocardial infarction no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation:cds:1691G>A (human) PMID:10590188|REF_RGD_ID:11564337 8725473 F5 coagulation factor V gene DOID:5844 myocardial infarction susceptibility ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation:cds:1691G>A (human) PMID:15131548|REF_RGD_ID:11564335 8725473 F5 coagulation factor V gene DOID:630 genetic disease ISO RGD:1344593 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12069454|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15208046|PMID:15534175|PMID:15638861|PMID:15946211|PMID:16493002|PMID:16769590|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:22992668|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:28750087|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:7968118|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 8725473 F5 coagulation factor V gene DOID:6432 pulmonary hypertension ISO RGD:1344593 D RGD:9068941 20200609 RGD Chronic thromboembolic pulmonary hypertension (CTEPH) PMID:20182352|REF_RGD_ID:4892669 8725473 F5 coagulation factor V gene DOID:783 end stage renal disease ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation: :1691G>A(human) PMID:19520684|REF_RGD_ID:6893522 8725473 F5 coagulation factor V gene DOID:8483 retinal artery occlusion no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:12928685|REF_RGD_ID:1580362 8725473 F5 coagulation factor V gene DOID:869 cholesteatoma ISO RGD:1344593 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 8725473 F5 coagulation factor V gene DOID:9000590 Dyspnea ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:16186475|REF_RGD_ID:4892656 8725473 F5 coagulation factor V gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:17431769|REF_RGD_ID:7394781 8725473 F5 coagulation factor V gene DOID:9001722 Dysarthria ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:15026880|REF_RGD_ID:1580361 8725473 F5 coagulation factor V gene DOID:9001916 Fetal Death no_association ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:14706682|REF_RGD_ID:1580130 8725473 F5 coagulation factor V gene DOID:9002488 Peritoneal Fibrosis ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:19458308|REF_RGD_ID:7394780 8725473 F5 coagulation factor V gene DOID:9002928 Colonic Neoplasms ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 8725473 F5 coagulation factor V gene DOID:9002928 Colonic Neoplasms ISO RGD:1589758 D RGD:9068941 20210115 RGD protein:increased expression:serum PMID:25200834|REF_RGD_ID:10449102 8725473 F5 coagulation factor V gene DOID:9003049 Femur Head Necrosis ISO RGD:1344593 D RGD:9068941 20200609 RGD associated with kidney transplantation;1691G>A(human) PMID:16968732|REF_RGD_ID:6902907 8725473 F5 coagulation factor V gene DOID:9003121 Thromboembolism ISO RGD:1344593 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:19486170|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32833806|PMID:34280927|PMID:34355501|PMID:37150682 8725473 F5 coagulation factor V gene DOID:9003505 Venous Thromboembolism ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7500743|PMID:9149031 8725473 F5 coagulation factor V gene DOID:9003505 Venous Thromboembolism ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation: :1691G>A (human) PMID:25665832|REF_RGD_ID:10449100 8725473 F5 coagulation factor V gene DOID:9003505 Venous Thromboembolism disease_progression ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:SNP: :rs6025(human) PMID:26245493|REF_RGD_ID:11536892 8725473 F5 coagulation factor V gene DOID:9003871 Venous Thrombosis ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:19486170|PMID:25741868|PMID:31064749 8725473 F5 coagulation factor V gene DOID:9004082 Mesenteric Ischemia ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24282370 8725473 F5 coagulation factor V gene DOID:9004484 Sepsis severity ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:16235188|REF_RGD_ID:4892622 8725473 F5 coagulation factor V gene DOID:9004484 Sepsis treatment ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 8725473 F5 coagulation factor V gene DOID:9004590 Acute Liver Failure severity ISO RGD:1344593 D RGD:9068941 20200609 RGD protein:altered expression (human) PMID:1740285|REF_RGD_ID:14700653 8725473 F5 coagulation factor V gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1344593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9136971 8725473 F5 coagulation factor V gene DOID:9005930 Endotoxemia ISO RGD:1589758 D RGD:9068941 20200609 RGD PMID:11092686|REF_RGD_ID:7394782 8725473 F5 coagulation factor V gene DOID:9007096 Stroke ISO RGD:1344593 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12069454|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15208046|PMID:15534175|PMID:15638861|PMID:15946211|PMID:16493002|PMID:16769590|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:22992668|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:28750087|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:7968118|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 8725473 F5 coagulation factor V gene DOID:9007102 Myocardial Ischemia ISO RGD:1344593 D RGD:9068941 20200609 RGD DNA:mutation, haplotype: :1691G>A (human) PMID:19524925|REF_RGD_ID:4892673 8725473 F5 coagulation factor V gene DOID:9007367 Septic Peritonitis disease_progression ISO RGD:10557 D RGD:9068941 20200609 RGD PMID:25690763|REF_RGD_ID:11564333 8725473 F5 coagulation factor V gene DOID:9007479 Habitual Abortions ISO RGD:1344593 D RGD:7240710 20240313 OMIM 8725473 F5 coagulation factor V gene DOID:9007479 Habitual Abortions ISO RGD:1344593 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO PMID:10328130|PMID:10348711|PMID:10477778|PMID:10494770|PMID:10507841|PMID:10666427|PMID:11018168|PMID:11110695|PMID:11686338|PMID:12069454|PMID:12070000|PMID:12421138|PMID:14996674|PMID:15208046|PMID:15534175|PMID:15638861|PMID:15946211|PMID:16493002|PMID:16769590|PMID:16931580|PMID:19652888|PMID:20051284|PMID:21116184|PMID:21774968|PMID:22704462|PMID:22992668|PMID:23382263|PMID:23677252|PMID:23900608|PMID:24033266|PMID:25741868|PMID:25977387|PMID:26251307|PMID:26990548|PMID:27797270|PMID:28492532|PMID:28750087|PMID:34355501|PMID:7586244|PMID:7803250|PMID:7877648|PMID:7910348|PMID:7911872|PMID:7968118|PMID:8049422|PMID:8164730|PMID:8164741|PMID:8566967|PMID:8616100|PMID:8822583|PMID:9245936|PMID:9339109|PMID:9372726|PMID:9415695|PMID:9454741|PMID:9459326|PMID:9518910|PMID:9734642 8725473 F5 coagulation factor V gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8725473 F5 coagulation factor V gene DOID:9008217 Hemorrhage ISO RGD:1344593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868|PMID:28492532|PMID:34355501 8725473 F5 coagulation factor V gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8725473 F5 coagulation factor V gene DOID:9477 pulmonary embolism ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:14996674|REF_RGD_ID:4892657 8725473 F5 coagulation factor V gene DOID:999 hypereosinophilic syndrome ISO RGD:1344593 D RGD:9068941 20200609 RGD PMID:15026880|REF_RGD_ID:1580361 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1342518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:1074 kidney failure ISO RGD:61936 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney cortex PMID:21167265|REF_RGD_ID:7243878 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:61936 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20814153|REF_RGD_ID:7243879 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:1852 intrahepatic cholestasis ISO RGD:61936 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19002567|REF_RGD_ID:7243885 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:1920 hyperuricemia ISO RGD:61936 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:15748710|REF_RGD_ID:7243882 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:1920 hyperuricemia treatment ISO RGD:62229 D RGD:9068941 20200609 RGD PMID:21154198|PMID:21909718|REF_RGD_ID:7243180|REF_RGD_ID:7244192 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:3021 acute kidney failure ISO RGD:61936 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:18612803|REF_RGD_ID:7243880 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:3021 acute kidney failure susceptibility ISO RGD:1342518 D RGD:9068941 20200609 RGD DNA:SNP: :808G>T (rs316019) human PMID:19625999|REF_RGD_ID:7243884 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:3021 acute kidney failure treatment ISO RGD:61936 D RGD:9068941 20200609 RGD PMID:22414646|REF_RGD_ID:7243179 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:557 kidney disease ISO RGD:1342518 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22525860 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:630 genetic disease ISO RGD:1342518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:783 end stage renal disease ISO RGD:61936 D RGD:9068941 20200609 RGD PMID:23280877|REF_RGD_ID:7243177 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:783 end stage renal disease ISO RGD:61936 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, plasma membrane PMID:12110012|REF_RGD_ID:7243883 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:9000046 Poisoning ISO RGD:1342518 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22525860 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:62229 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:23228442|REF_RGD_ID:7243178 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61936 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:19356064|REF_RGD_ID:2312728 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:9005930 Endotoxemia treatment ISO RGD:61936 D RGD:9068941 20200609 RGD PMID:18313662|REF_RGD_ID:7243881 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:61936 D RGD:9068941 20200609 RGD PMID:21835768|REF_RGD_ID:7243877 8725502 Slc22a2 solute carrier family 22 member 2 gene DOID:9970 obesity ISO RGD:1342518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27401566 8725521 Cog2 component of oligomeric golgi complex 2 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1312615 D RGD:7240710 20190315 OMIM 8725521 Cog2 component of oligomeric golgi complex 2 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1312615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:17576681|PMID:24784932|PMID:25741868|PMID:28492532|PMID:32293671|PMID:9536098 8725521 Cog2 component of oligomeric golgi complex 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8725521 Cog2 component of oligomeric golgi complex 2 gene DOID:630 genetic disease ISO RGD:1312615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8725521 Cog2 component of oligomeric golgi complex 2 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1312615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8725521 Cog2 component of oligomeric golgi complex 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8725557 Eml3 EMAP like 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8725557 Eml3 EMAP like 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1606414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 8725557 Eml3 EMAP like 3 gene DOID:1059 intellectual disability ISO RGD:1606414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8725557 Eml3 EMAP like 3 gene DOID:630 genetic disease ISO RGD:1606414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725597 Cmtm2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1342693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8725597 Cmtm2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1342693 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8725597 Cmtm2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1342693 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8725597 Cmtm2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:630 genetic disease ISO RGD:1342693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725597 Cmtm2 CKLF like MARVEL transmembrane domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8725604 Hsph1 heat shock protein family H (Hsp110) member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1323157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8725604 Hsph1 heat shock protein family H (Hsp110) member 1 gene DOID:630 genetic disease ISO RGD:1323157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725629 Ptges2 prostaglandin E synthase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8725629 Ptges2 prostaglandin E synthase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321966 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8725629 Ptges2 prostaglandin E synthase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8725629 Ptges2 prostaglandin E synthase 2 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1321966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8725629 Ptges2 prostaglandin E synthase 2 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1321966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8725629 Ptges2 prostaglandin E synthase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8725629 Ptges2 prostaglandin E synthase 2 gene DOID:630 genetic disease ISO RGD:1321966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725629 Ptges2 prostaglandin E synthase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1321966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387750 8725629 Ptges2 prostaglandin E synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31444509 8725642 Rgs7 regulator of G protein signaling 7 gene DOID:1059 intellectual disability ISO RGD:733586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8725642 Rgs7 regulator of G protein signaling 7 gene DOID:1540 parathyroid carcinoma ISO RGD:733586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8725642 Rgs7 regulator of G protein signaling 7 gene DOID:630 genetic disease ISO RGD:733586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725642 Rgs7 regulator of G protein signaling 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8725642 Rgs7 regulator of G protein signaling 7 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:733586 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 8725642 Rgs7 regulator of G protein signaling 7 gene DOID:9007090 Experimental Seizures ISO RGD:3570 D RGD:9068941 20200609 RGD PMID:12358788|REF_RGD_ID:13524540 8725642 Rgs7 regulator of G protein signaling 7 gene DOID:9007096 Stroke ISO RGD:733586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8725642 Rgs7 regulator of G protein signaling 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8725675 Niban2 niban apoptosis regulator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8725675 Niban2 niban apoptosis regulator 2 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 8725675 Niban2 niban apoptosis regulator 2 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8725675 Niban2 niban apoptosis regulator 2 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8725675 Niban2 niban apoptosis regulator 2 gene DOID:0080600 COVID-19 ISO RGD:1315963 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8725675 Niban2 niban apoptosis regulator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8725675 Niban2 niban apoptosis regulator 2 gene DOID:630 genetic disease ISO RGD:1315963 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725692 Dnah7 dynein axonemal heavy chain 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1317528 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8725692 Dnah7 dynein axonemal heavy chain 7 gene DOID:1826 epilepsy ISO RGD:1317528 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8725692 Dnah7 dynein axonemal heavy chain 7 gene DOID:630 genetic disease ISO RGD:1317528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725692 Dnah7 dynein axonemal heavy chain 7 gene DOID:9003633 Primary Ciliary Dyskinesia 50 ISO RGD:1317528 D RGD:7240710 20230505 OMIM 8725692 Dnah7 dynein axonemal heavy chain 7 gene DOID:9003633 Primary Ciliary Dyskinesia 50 ISO RGD:1317528 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 50 PMID:34476482|PMID:35543642 8725692 Dnah7 dynein axonemal heavy chain 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8725692 Dnah7 dynein axonemal heavy chain 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317528 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8725773 Pus7 pseudouridine synthase 7 gene DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature ISO RGD:1603643 D RGD:7240710 20190315 OMIM 8725773 Pus7 pseudouridine synthase 7 gene DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature ISO RGD:1603643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature PMID:25741868|PMID:28492532|PMID:30526862|PMID:30778726|PMID:35144859 8725773 Pus7 pseudouridine synthase 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8725773 Pus7 pseudouridine synthase 7 gene DOID:630 genetic disease ISO RGD:1603643 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:35144859 8725824 Arglu1 arginine and glutamate rich 1 gene DOID:630 genetic disease ISO RGD:1605984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725824 Arglu1 arginine and glutamate rich 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1605984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8725832 Dydc2 DPY30 domain containing 2 gene DOID:630 genetic disease ISO RGD:1352468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725840 Serpini2 serpin family I member 2 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:737029 D RGD:9068941 20220825 MouseDO OMIM:260400 8725840 Serpini2 serpin family I member 2 gene DOID:630 genetic disease ISO RGD:737028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725848 Klhdc1 kelch domain containing 1 gene DOID:630 genetic disease ISO RGD:1317857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725848 Klhdc1 kelch domain containing 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317857 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8725871 Tmem59l transmembrane protein 59 like gene DOID:5119 ovarian cyst ISO RGD:1313653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8725871 Tmem59l transmembrane protein 59 like gene DOID:630 genetic disease ISO RGD:1313653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725871 Tmem59l transmembrane protein 59 like gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1313653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8725888 Lyl1 LYL1 basic helix-loop-helix family member gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1343769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 8725888 Lyl1 LYL1 basic helix-loop-helix family member gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16094422 8725888 Lyl1 LYL1 basic helix-loop-helix family member gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 8725888 Lyl1 LYL1 basic helix-loop-helix family member gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8725888 Lyl1 LYL1 basic helix-loop-helix family member gene DOID:0111254 glutaric acidemia I ISO RGD:1343769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8725888 Lyl1 LYL1 basic helix-loop-helix family member gene DOID:1037 lymphoid leukemia ISO RGD:1343769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3162254 8725888 Lyl1 LYL1 basic helix-loop-helix family member gene DOID:3413 alpha-mannosidosis ISO RGD:1343769 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8725888 Lyl1 LYL1 basic helix-loop-helix family member gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1343769 D RGD:7240710 20200325 OMIM 8725888 Lyl1 LYL1 basic helix-loop-helix family member gene DOID:630 genetic disease ISO RGD:1343769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725888 Lyl1 LYL1 basic helix-loop-helix family member gene DOID:9119 acute myeloid leukemia ISO RGD:1343769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16094422 8725901 Smco3 single-pass membrane protein with coiled-coil domains 3 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605173 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8725901 Smco3 single-pass membrane protein with coiled-coil domains 3 gene DOID:630 genetic disease ISO RGD:1605173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725928 Arhgap1 Rho GTPase activating protein 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8725928 Arhgap1 Rho GTPase activating protein 1 gene DOID:1059 intellectual disability ISO RGD:1314470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8725928 Arhgap1 Rho GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1314470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8725928 Arhgap1 Rho GTPase activating protein 1 gene DOID:9002644 Premature Aging ISO RGD:1314471 D RGD:9068941 20200609 RGD PMID:17227869|REF_RGD_ID:10043350 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:1063 interstitial nephritis ISO RGD:1353511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1618405 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11134301|REF_RGD_ID:4891417 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:2377 multiple sclerosis ISO RGD:1353511 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:c.*136G>A (rs3136682) (human) PMID:19865101|REF_RGD_ID:4145472 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:2527 nephrosis ISO RGD:1586495 D RGD:9068941 20200609 RGD PMID:10867541|REF_RGD_ID:4891422 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:2841 asthma ISO RGD:1353511 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20455898|REF_RGD_ID:4891420 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:289 endometriosis ISO RGD:1353511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis ISO RGD:1353511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:2921 glomerulonephritis ISO RGD:1586495 D RGD:9068941 20200609 RGD PMID:11157384|REF_RGD_ID:8693624 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1618405 D RGD:9068941 20200619 RGD mRNA: increased expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1618405 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, dendritic cell PMID:18703681|REF_RGD_ID:4891409 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353511 D RGD:9068941 20200609 RGD DNA:SNP: :multiple (human) PMID:19057661|REF_RGD_ID:4891408 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1353511 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:rs2282691 (human) PMID:16864713|REF_RGD_ID:4891410 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:399 tuberculosis susceptibility ISO RGD:1353511 D RGD:9068941 20200609 RGD DNA:SNP: :rs159294, rs210837, rs10491110 (human) PMID:19057661|REF_RGD_ID:4891408 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:4483 rhinitis ISO RGD:1353511 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:17982926|REF_RGD_ID:4145109 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:630 genetic disease ISO RGD:1353511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:6432 pulmonary hypertension ISO RGD:1353511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22507635 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1618405 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:9001472 Nasal Polyps ISO RGD:1353511 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:20598643|REF_RGD_ID:4891418 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1618405 D RGD:9068941 20200609 RGD associated with Schistosomiasis mansoni PMID:12600821|REF_RGD_ID:4145441 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1586495 D RGD:9068941 20200609 RGD mRNA:decreased expression:lymph node PMID:19865101|REF_RGD_ID:4145472 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8725945 Ccl1 C-C motif chemokine ligand 1 gene DOID:9498 pulmonary eosinophilia ISO RGD:1618405 D RGD:9068941 20200609 RGD associated with Asthma PMID:12707363|REF_RGD_ID:4891412 8725955 Ubl4a ubiquitin like 4A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348580 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8725955 Ubl4a ubiquitin like 4A gene DOID:0050476 Barth syndrome ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8725955 Ubl4a ubiquitin like 4A gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8725955 Ubl4a ubiquitin like 4A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8725955 Ubl4a ubiquitin like 4A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1348580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 8725955 Ubl4a ubiquitin like 4A gene DOID:0112003 immunodeficiency 33 ISO RGD:1348580 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8725955 Ubl4a ubiquitin like 4A gene DOID:10588 adrenoleukodystrophy ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8725955 Ubl4a ubiquitin like 4A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8725955 Ubl4a ubiquitin like 4A gene DOID:12849 autistic disorder ISO RGD:1348580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8725955 Ubl4a ubiquitin like 4A gene DOID:13628 favism ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8725955 Ubl4a ubiquitin like 4A gene DOID:2729 dyskeratosis congenita ISO RGD:1348580 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8725955 Ubl4a ubiquitin like 4A gene DOID:607 paraplegia ISO RGD:1348580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8725955 Ubl4a ubiquitin like 4A gene DOID:630 genetic disease ISO RGD:1348580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725955 Ubl4a ubiquitin like 4A gene DOID:9002720 Splenomegaly ISO RGD:1348580 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8725963 Irak1bp1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1312787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:27900362|PMID:28708303 8725963 Irak1bp1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1312787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532 8725963 Irak1bp1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1312787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 8725963 Irak1bp1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1312787 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33004838 8725963 Irak1bp1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:9000949 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ISO RGD:1312787 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related condition PMID:17576681|PMID:23033978|PMID:25741868|PMID:28492532|PMID:29209020|PMID:9536098 8725963 Irak1bp1 interleukin 1 receptor associated kinase 1 binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312787 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8725977 Mef2a myocyte enhancer factor 2A gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1322126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8725977 Mef2a myocyte enhancer factor 2A gene DOID:12930 dilated cardiomyopathy ISO RGD:1322126 D RGD:9068941 20200609 RGD PMID:16469744|REF_RGD_ID:1580546 8725977 Mef2a myocyte enhancer factor 2A gene DOID:630 genetic disease ISO RGD:1322126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8725977 Mef2a myocyte enhancer factor 2A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1359360 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18413674|REF_RGD_ID:2312263 8725977 Mef2a myocyte enhancer factor 2A gene DOID:9007440 Coronary Artery Disease, Autosomal Dominant 1 ISO RGD:1322126 D RGD:7240710 20180130 OMIM 8725977 Mef2a myocyte enhancer factor 2A gene DOID:9007440 Coronary Artery Disease, Autosomal Dominant 1 ISO RGD:1322126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant, 1 | ClinVar Annotator: match by term: Coronary artery disease/myocardial infarction PMID:14645853|PMID:15496429|PMID:15841183 8726005 Asnsd1 asparagine synthetase domain containing 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:1603641 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 8726005 Asnsd1 asparagine synthetase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726005 Asnsd1 asparagine synthetase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8726017 Nckap5l NCK associated protein 5 like gene DOID:630 genetic disease ISO RGD:1605652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726053 Cnga2 cyclic nucleotide gated channel subunit alpha 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8726053 Cnga2 cyclic nucleotide gated channel subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:736824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8726053 Cnga2 cyclic nucleotide gated channel subunit alpha 2 gene DOID:630 genetic disease ISO RGD:736824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726064 Bfsp1 beaded filament structural protein 1 gene DOID:0110264 cataract 33 ISO RGD:737302 D RGD:7240710 20180130 OMIM 8726064 Bfsp1 beaded filament structural protein 1 gene DOID:0110264 cataract 33 ISO RGD:737302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 33 PMID:12454043|PMID:14638724|PMID:17225135|PMID:24281366|PMID:24379646|PMID:25741868|PMID:26694549|PMID:28450710|PMID:28492532 8726064 Bfsp1 beaded filament structural protein 1 gene DOID:12270 coloboma ISO RGD:737302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:24281366|PMID:28492532 8726064 Bfsp1 beaded filament structural protein 1 gene DOID:630 genetic disease ISO RGD:737302 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8726064 Bfsp1 beaded filament structural protein 1 gene DOID:83 cataract ISO RGD:737302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0060017 CD3epsilon deficiency ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1347719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347719 D RGD:9068941 20200609 RGD DNA:rearrangements PMID:8361504|REF_RGD_ID:1625285 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1347719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25574841 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0080690 RASopathy ISO RGD:1347719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8282816 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0081330 glycogen storage disease Ib ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0110651 long QT syndrome 10 ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0111971 immunodeficiency 18 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0111972 immunodeficiency 19 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8726076 Kmt2a lysine methyltransferase 2A gene DOID:0111973 immunodeficiency 17 ISO RGD:1347719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8726076 Kmt2a lysine methyltransferase 2A gene DOID:10283 prostate cancer ISO RGD:1347719 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 8726076 Kmt2a lysine methyltransferase 2A gene DOID:1037 lymphoid leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17463288 8726076 Kmt2a lysine methyltransferase 2A gene DOID:1059 intellectual disability ISO RGD:1347719 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:22795537|PMID:25741868|PMID:25810209|PMID:28492532|PMID:28600779|PMID:29276005|PMID:29574747|PMID:31785789 8726076 Kmt2a lysine methyltransferase 2A gene DOID:10907 microcephaly ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8726076 Kmt2a lysine methyltransferase 2A gene DOID:11054 urinary bladder cancer ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 8726076 Kmt2a lysine methyltransferase 2A gene DOID:1240 leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11731795|PMID:12937054 8726076 Kmt2a lysine methyltransferase 2A gene DOID:12849 autistic disorder ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 8726076 Kmt2a lysine methyltransferase 2A gene DOID:224 transient cerebral ischemia treatment ISO RGD:1586165 D RGD:9068941 20230209 RGD PMID:34694864|REF_RGD_ID:155888565 8726076 Kmt2a lysine methyltransferase 2A gene DOID:2671 transitional cell carcinoma ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 8726076 Kmt2a lysine methyltransferase 2A gene DOID:299 adenocarcinoma ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 8726076 Kmt2a lysine methyltransferase 2A gene DOID:3948 adrenocortical carcinoma ISO RGD:1347719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29574747 8726076 Kmt2a lysine methyltransferase 2A gene DOID:4362 cervical cancer ISO RGD:1347719 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22926525|REF_RGD_ID:9588221 8726076 Kmt2a lysine methyltransferase 2A gene DOID:4971 myelofibrosis exacerbates ISO RGD:1347719 D RGD:9068941 20230330 RGD DNA:mutations:multiple (human) PMID:35731275|REF_RGD_ID:156420157 8726076 Kmt2a lysine methyltransferase 2A gene DOID:5409 lung small cell carcinoma ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 8726076 Kmt2a lysine methyltransferase 2A gene DOID:630 genetic disease ISO RGD:1347719 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22795537|PMID:25356970|PMID:25741868|PMID:25810209|PMID:27759909|PMID:27959697|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29276005|PMID:29453417|PMID:29574747|PMID:30138938|PMID:30315573|PMID:31785789|PMID:33043602 8726076 Kmt2a lysine methyltransferase 2A gene DOID:684 hepatocellular carcinoma ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634756 8726076 Kmt2a lysine methyltransferase 2A gene DOID:8692 myeloid leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17463288|PMID:8282816 8726076 Kmt2a lysine methyltransferase 2A gene DOID:8864 acute monocytic leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8282816 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9000217 Stomach Neoplasms ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9000647 Acute Erythroleukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:29255178 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9002112 Wiedemann-Steiner syndrome ISO RGD:1347719 D RGD:7240710 20180130 OMIM 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9002112 Wiedemann-Steiner syndrome ISO RGD:1347719 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome PMID:18414213|PMID:22795537|PMID:24088041|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25574841|PMID:25724810|PMID:25741868|PMID:25741869|PMID:25810209|PMID:26633545|PMID:26690532|PMID:27441994|PMID:27959697|PMID:28120103|PMID:28330790|PMID:28492532|PMID:28600779|PMID:29203834|PMID:29255178|PMID:29276034|PMID:29453417|PMID:29574747|PMID:30305169|PMID:30315573|PMID:30549396|PMID:31157197|PMID:31337854|PMID:32860008|PMID:33004838|PMID:33043602|PMID:33783954|PMID:5519603 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347719 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:22795537|PMID:25574841|PMID:25741868|PMID:25810209|PMID:28120103|PMID:28492532|PMID:29574747|PMID:31157197|PMID:31337854 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9004507 Hirsutism ISO RGD:1347719 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:22795537|PMID:25810209|PMID:28492532|PMID:28600779|PMID:29276005|PMID:29574747|PMID:31785789 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9004814 Chromosome Aberrations ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24736461 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9005985 Rubinstein Taybi like Syndrome ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rubinstein Taybi like syndrome PMID:30806792 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10900 D RGD:9068941 20230209 RGD protein:increased expression:kidney (mouse) PMID:31570196|REF_RGD_ID:155888490 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9007661 Dwarfism ISO RGD:1347719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9008582 Developmental Disease ISO RGD:1347719 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ISO RGD:10900 D RGD:9068941 20220825 MouseDO OMIM:601626 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10339604|PMID:26237430 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ISO RGD:1347719 D RGD:9068941 20200609 RGD DNA:rearrangements PMID:8361504|REF_RGD_ID:1625285 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia ameliorates ISO RGD:10900 D RGD:9068941 20230209 RGD PMID:26927674|REF_RGD_ID:11530086 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1347719 D RGD:9068941 20230209 RGD human cell line in a mouse model PMID:33542482|REF_RGD_ID:155888491 8726076 Kmt2a lysine methyltransferase 2A gene DOID:93 language disorder ISO RGD:1347719 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Language disorder PMID:25741868 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9952 acute lymphoblastic leukemia ISO RGD:10900 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 8726076 Kmt2a lysine methyltransferase 2A gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24736461|PMID:25730765 8726125 Cdk5rap3 CDK5 regulatory subunit associated protein 3 gene DOID:630 genetic disease ISO RGD:731437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726146 Prdx5 peroxiredoxin 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1347956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8726146 Prdx5 peroxiredoxin 5 gene DOID:10459 common cold ISO RGD:1347956 D RGD:9068941 20210205 RGD associated with asthma;protein:increased expression:sputum (human) PMID:18219526|REF_RGD_ID:41404684 8726146 Prdx5 peroxiredoxin 5 gene DOID:1059 intellectual disability ISO RGD:1347956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8726146 Prdx5 peroxiredoxin 5 gene DOID:11077 brucellosis ISO RGD:733919 D RGD:9068941 20210205 RGD mRNA:increased expression:spleen (mouse) PMID:31196623|REF_RGD_ID:41404681 8726146 Prdx5 peroxiredoxin 5 gene DOID:11335 sarcoidosis ISO RGD:1347956 D RGD:9068941 20210205 RGD protein:increased expression:alveolus of lung (human) PMID:22837380|REF_RGD_ID:41404683 8726146 Prdx5 peroxiredoxin 5 gene DOID:3070 high grade glioma ISO RGD:1347956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8726146 Prdx5 peroxiredoxin 5 gene DOID:630 genetic disease ISO RGD:1347956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726146 Prdx5 peroxiredoxin 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 8726146 Prdx5 peroxiredoxin 5 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347956 D RGD:9068941 20210205 RGD mRNA:decreased expression:liver, blood (human) PMID:32103340|REF_RGD_ID:41404682 8726146 Prdx5 peroxiredoxin 5 gene DOID:986 alopecia areata ISO RGD:1347956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 8726162 Notch3 notch receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732750 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8726162 Notch3 notch receptor 3 gene DOID:0060669 cerebral cavernous malformation ISO RGD:732750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25741868|PMID:28492532 8726162 Notch3 notch receptor 3 gene DOID:0080109 infantile myofibromatosis ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8726162 Notch3 notch receptor 3 gene DOID:0111035 CADASIL 1 ISO RGD:732750 D RGD:7240710 20180130 OMIM 8726162 Notch3 notch receptor 3 gene DOID:0111035 CADASIL 1 ISO RGD:732750 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | ClinVar Annotator: match by term: Recurrent subcortical infarcts PMID:10227618|PMID:10371548|PMID:10712431|PMID:10716263|PMID:10802804|PMID:10854111|PMID:10969905|PMID:11102981|PMID:11486103|PMID:11559313|PMID:11571335|PMID:11706120|PMID:11715067|PMID:11755616|PMID:11757773|PMID:11771160|PMID:11784372|PMID:12136071|PMID:12146805|PMID:12196662|PMID:12395806|PMID:12482954|PMID:12754354|PMID:12810003|PMID:12821756|PMID:12821764|PMID:12861102|PMID:14714274|PMID:15229130|PMID:15350543|PMID:15364702|PMID:15378071|PMID:15694192|PMID:15776792|PMID:15827866|PMID:15834039|PMID:15857853|PMID:15995828|PMID:16009764|PMID:16193256|PMID:16256149|PMID:16580020|PMID:16717210|PMID:16730748|PMID:16791082|PMID:16864835|PMID:17122431|PMID:17135568|PMID:17218610|PMID:17323840|PMID:17389000|PMID:17390743|PMID:17729386|PMID:17761910|PMID:17879445|PMID:17879447|PMID:18384453|PMID:18386330|PMID:18386331|PMID:18765654|PMID:18803652|PMID:18948701|PMID:19006080|PMID:19043263|PMID:19080749|PMID:19174371|PMID:19180562|PMID:19242647|PMID:19245392|PMID:19252787|PMID:19259619|PMID:19293235|PMID:19359623|PMID:19417009|PMID:19488902|PMID:19528524|PMID:19539236|PMID:19542611|PMID:19576955|PMID:19683925|PMID:19825845|PMID:20038773|PMID:20071773|PMID:20167921|PMID:20169447|PMID:20301673|PMID:20851625|PMID:20857162|PMID:20935329|PMID:20981092|PMID:21078731|PMID:21345538|PMID:21387384|PMID:21448560|PMID:21555590|PMID:21616505|PMID:21737310|PMID:21786151|PMID:21852154|PMID:21940951|PMID:22006983|PMID:22019870|PMID:22053260|PMID:22082899|PMID:22153900|PMID:22159056|PMID:22206696|PMID:22218279|PMID:22367839|PMID:22373597|PMID:22623959|PMID:22664156|PMID:22688109|PMID:22795385|PMID:22878905|PMID:23025651|PMID:23028706|PMID:23064698|PMID:23412372|PMID:23584202|PMID:23602593|PMID:23623146|PMID:23639391|PMID:23649698|PMID:23844775|PMID:23847153|PMID:24033266|PMID:24086431|PMID:24139282|PMID:24344756|PMID:24425116|PMID:24480794|PMID:24840674|PMID:24844136|PMID:24886907|PMID:24929957|PMID:24936512|PMID:25033846|PMID:25260786|PMID:25326637|PMID:25344745|PMID:25412914|PMID:25604251|PMID:25623805|PMID:25692567|PMID:25741868|PMID:25801821|PMID:25819272|PMID:25834748|PMID:25870235|PMID:25914166|PMID:25929831|PMID:25959358|PMID:25973016|PMID:25980907|PMID:25982499|PMID:26002683|PMID:26261665|PMID:26270344|PMID:26305465|PMID:26308724|PMID:26368811|PMID:26467025|PMID:26618768|PMID:26646783|PMID:26671140|PMID:26715087|PMID:26806700|PMID:26843489|PMID:26850715|PMID:26856460|PMID:26889213|PMID:26894465|PMID:26912635|PMID:27174004|PMID:27206574|PMID:27293347|PMID:27350778|PMID:27423596|PMID:27770446|PMID:27844030|PMID:27881154|PMID:27884173|PMID:27890607|PMID:28166811|PMID:28334938|PMID:28341077|PMID:28479817|PMID:28492532|PMID:28534048|PMID:28601945|PMID:28710804|PMID:28815929|PMID:28860774|PMID:28902129|PMID:28991717|PMID:29363903|PMID:29449082|PMID:29980472|PMID:30031255|PMID:30032161|PMID:30076350|PMID:30199759|PMID:30212743|PMID:30279455|PMID:30311053|PMID:30338453|PMID:30355220|PMID:30402942|PMID:30532056|PMID:30656190|PMID:30906334|PMID:30954774|PMID:30956055|PMID:31028544|PMID:31212292|PMID:31418856|PMID:31433517|PMID:31443546|PMID:31554780|PMID:31680059|PMID:31792094|PMID:31799216|PMID:31813735|PMID:31915071|PMID:31960911|PMID:31998484|PMID:32055601|PMID:32122318|PMID:32128266|PMID:32172663|PMID:32196841|PMID:32277177|PMID:32348626|PMID:32387185|PMID:32457593|PMID:32552418|PMID:32555735|PMID:32573853|PMID:32581362|PMID:32612778|PMID:32732295|PMID:32765252|PMID:32912545|PMID:33013620|PMID:33020014|PMID:33061333|PMID:33091750|PMID:33109952|PMID:33161844|PMID:33161845|PMID:33268848|PMID:33310205|PMID:33712516|PMID:33942994|PMID:34008892|PMID:34074565|PMID:34335700|PMID:34374989|PMID:34691145|PMID:34741685|PMID:34841502|PMID:3484396|PMID:34851492|PMID:35226365|PMID:35401403|PMID:35754959|PMID:35775048|PMID:35822697|PMID:36044383|PMID:36157006|PMID:36300346|PMID:36401683|PMID:36402400|PMID:36479049|PMID:36535904|PMID:36580209|PMID:37479695|PMID:8878478|PMID:9388399 8726162 Notch3 notch receptor 3 gene DOID:0111036 CADASIL2 ISO RGD:732750 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 PMID:28492532 8726162 Notch3 notch receptor 3 gene DOID:0111343 lateral meningocele syndrome ISO RGD:732750 D RGD:7240710 20180130 OMIM 8726162 Notch3 notch receptor 3 gene DOID:0111343 lateral meningocele syndrome ISO RGD:732750 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lateral meningocele syndrome | ClinVar Annotator: match by term: Lehman syndrome PMID:11102981|PMID:11755616|PMID:12754354|PMID:15229130|PMID:15364702|PMID:15666314|PMID:15857853|PMID:16009764|PMID:17122431|PMID:19174371|PMID:19359623|PMID:20071773|PMID:21337686|PMID:21448560|PMID:21940951|PMID:22218279|PMID:23584202|PMID:23696373|PMID:23844775|PMID:24086431|PMID:24425116|PMID:24886907|PMID:25344745|PMID:25394726|PMID:25412914|PMID:25741868|PMID:25929831|PMID:26467025|PMID:26646783|PMID:26754023|PMID:27844030|PMID:28334938|PMID:28492532|PMID:28710804|PMID:31418856|PMID:32172663|PMID:32277177|PMID:32555735|PMID:32581362|PMID:34335700|PMID:8878478|PMID:9188658|PMID:9388399 8726162 Notch3 notch receptor 3 gene DOID:10024 migraine with aura ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine with aura PMID:32581362 8726162 Notch3 notch receptor 3 gene DOID:10283 prostate cancer ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:15364702|PMID:16328531|PMID:23265383|PMID:25033846|PMID:26308724|PMID:26467025|PMID:7732783 8726162 Notch3 notch receptor 3 gene DOID:12783 migraine without aura ISO RGD:732750 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Migraine without aura PMID:12754354|PMID:15229130|PMID:15857853|PMID:20071773|PMID:21940951|PMID:24425116|PMID:24886907|PMID:25412914|PMID:25741868|PMID:26467025|PMID:28334938|PMID:28492532|PMID:31418856|PMID:32277177|PMID:32555735|PMID:32581362|PMID:34335700|PMID:8878478|PMID:9388399 8726162 Notch3 notch receptor 3 gene DOID:13945 CADASIL ISO RGD:732750 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CASIL | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar Annotator: match by term: Dementia, hereditary multi-infarct type PMID:10227618|PMID:10371548|PMID:10854111|PMID:10969905|PMID:11102981|PMID:11486103|PMID:11559313|PMID:11715067|PMID:11755616|PMID:11771160|PMID:12754354|PMID:12810003|PMID:14714274|PMID:15229130|PMID:15350543|PMID:15364702|PMID:15378071|PMID:15694192|PMID:15834039|PMID:15857853|PMID:16009764|PMID:16256149|PMID:16580020|PMID:16717210|PMID:17122431|PMID:17135568|PMID:19153638|PMID:19174371|PMID:19242647|PMID:19252787|PMID:19293235|PMID:19359623|PMID:19417009|PMID:19542611|PMID:19825845|PMID:20038773|PMID:20071773|PMID:20167921|PMID:20301673|PMID:20935329|PMID:20975277|PMID:21852154|PMID:21940951|PMID:22019870|PMID:22082899|PMID:22218279|PMID:22259617|PMID:22623959|PMID:22664156|PMID:23584202|PMID:23602593|PMID:23844775|PMID:23847153|PMID:24086431|PMID:24139282|PMID:24344756|PMID:24425116|PMID:24480794|PMID:24840674|PMID:24886907|PMID:25033846|PMID:25344745|PMID:25412914|PMID:25604251|PMID:25623805|PMID:25692567|PMID:25741868|PMID:25819272|PMID:25914166|PMID:25929831|PMID:25959358|PMID:26002683|PMID:26261665|PMID:26270344|PMID:26305465|PMID:26308724|PMID:26368811|PMID:26467025|PMID:26646783|PMID:26671140|PMID:27245348|PMID:27844030|PMID:27881154|PMID:27890607|PMID:28334938|PMID:28341077|PMID:28492532|PMID:28534048|PMID:28555127|PMID:28710804|PMID:28860774|PMID:28991717|PMID:29370179|PMID:29544907|PMID:29980472|PMID:30199759|PMID:30311053|PMID:30656190|PMID:30906334|PMID:30956055|PMID:31418856|PMID:31443546|PMID:31554780|PMID:31792094|PMID:31836585|PMID:31915071|PMID:31996268|PMID:32055601|PMID:32122318|PMID:32172663|PMID:32277177|PMID:32457593|PMID:32555735|PMID:32573853|PMID:32581362|PMID:32732295|PMID:33712516|PMID:33942994|PMID:34008892|PMID:34297860|PMID:34335700|PMID:34352628|PMID:34741685|PMID:34881353|PMID:35300531|PMID:36221938|PMID:8878478|PMID:9388399 8726162 Notch3 notch receptor 3 gene DOID:1596 depressive disorder ISO RGD:732750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Depression PMID:15364702|PMID:16009764|PMID:21616505|PMID:28492532|PMID:32581362 8726162 Notch3 notch receptor 3 gene DOID:1749 squamous cell carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 8726162 Notch3 notch receptor 3 gene DOID:1826 epilepsy ISO RGD:732750 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8726162 Notch3 notch receptor 3 gene DOID:1909 melanoma ISO RGD:732750 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8726162 Notch3 notch receptor 3 gene DOID:3007 breast ductal carcinoma ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8726162 Notch3 notch receptor 3 gene DOID:3068 glioblastoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8726162 Notch3 notch receptor 3 gene DOID:3526 cerebral infarction ISO RGD:732750 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:10371548|PMID:10802804|PMID:10854111|PMID:11102981|PMID:11755616|PMID:15364702|PMID:16009764|PMID:16193256|PMID:17729386|PMID:20301673|PMID:25623805|PMID:25741868|PMID:26308724|PMID:26467025|PMID:26843489|PMID:26912635|PMID:27206574|PMID:27890607|PMID:28492532|PMID:28710804|PMID:31915071|PMID:32277177|PMID:32457593|PMID:32581362|PMID:34335700|PMID:34691145|PMID:9388399 8726162 Notch3 notch receptor 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 8726162 Notch3 notch receptor 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8726162 Notch3 notch receptor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21994468 8726162 Notch3 notch receptor 3 gene DOID:630 genetic disease ISO RGD:732750 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14714274|PMID:19539236|PMID:19855400|PMID:20167921|PMID:22495309|PMID:24000151|PMID:24840674|PMID:24936512|PMID:25394726|PMID:25741868|PMID:25870235|PMID:25914166|PMID:26308724|PMID:26467025|PMID:27844030|PMID:28166811|PMID:28492532|PMID:30032161|PMID:30532056|PMID:33268848|PMID:33310205|PMID:34841502|PMID:35822697 8726162 Notch3 notch receptor 3 gene DOID:6364 migraine ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868 8726162 Notch3 notch receptor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8726162 Notch3 notch receptor 3 gene DOID:8725 vascular dementia ISO RGD:732750 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:14714274|PMID:15364702|PMID:16009764|PMID:24840674|PMID:25033846|PMID:25741868|PMID:25914166|PMID:26308724|PMID:26467025|PMID:27844030|PMID:28492532|PMID:30032161|PMID:30402942|PMID:30532056|PMID:33268848|PMID:33310205|PMID:34841502|PMID:35822697 8726162 Notch3 notch receptor 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:732750 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:22006983|PMID:22153900|PMID:22159056|PMID:24086431|PMID:25741868|PMID:26467025|PMID:26894465|PMID:28492532 8726162 Notch3 notch receptor 3 gene DOID:9001890 Auditory Neuropathy ISO RGD:732750 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy PMID:25741868 8726162 Notch3 notch receptor 3 gene DOID:9002746 Infantile Myofibromatosis 2 ISO RGD:732750 D RGD:7240710 20180130 OMIM 8726162 Notch3 notch receptor 3 gene DOID:9002746 Infantile Myofibromatosis 2 ISO RGD:732750 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 2 PMID:11102981|PMID:11755616|PMID:12754354|PMID:15229130|PMID:15364702|PMID:15857853|PMID:16009764|PMID:17122431|PMID:19174371|PMID:19359623|PMID:20071773|PMID:21940951|PMID:22218279|PMID:23584202|PMID:23731542|PMID:23844775|PMID:24086431|PMID:24425116|PMID:24886907|PMID:25344745|PMID:25412914|PMID:25741868|PMID:25929831|PMID:26467025|PMID:26646783|PMID:27844030|PMID:28334938|PMID:28492532|PMID:28710804|PMID:31418856|PMID:32172663|PMID:32277177|PMID:32555735|PMID:32581362|PMID:32732295|PMID:34335700|PMID:8878478|PMID:9388399 8726162 Notch3 notch receptor 3 gene DOID:9003208 Progressive Psychomotor Deterioration ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive psychomotor deterioration PMID:32581362 8726162 Notch3 notch receptor 3 gene DOID:9004241 Infantile Myofibromatosis 1 ISO RGD:732750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 PMID:23731542 8726162 Notch3 notch receptor 3 gene DOID:9004464 Skin Neoplasms ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 8726162 Notch3 notch receptor 3 gene DOID:9005172 Lung Neoplasms ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 8726162 Notch3 notch receptor 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:620761 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 8726162 Notch3 notch receptor 3 gene DOID:9007096 Stroke ISO RGD:732750 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Stroke PMID:12754354|PMID:15229130|PMID:15857853|PMID:20071773|PMID:21940951|PMID:24425116|PMID:24886907|PMID:25412914|PMID:25741868|PMID:26467025|PMID:27844030|PMID:28334938|PMID:28492532|PMID:31418856|PMID:32277177|PMID:32555735|PMID:32581362|PMID:34335700|PMID:8878478|PMID:9388399 8726162 Notch3 notch receptor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:732750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 8726162 Notch3 notch receptor 3 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:732750 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:22006983|PMID:22153900|PMID:22159056|PMID:24086431|PMID:25741868|PMID:26467025|PMID:26894465|PMID:28492532 8726211 Aurka aurora kinase A gene DOID:0080600 COVID-19 ISO RGD:1353168 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8726211 Aurka aurora kinase A gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1353168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:18485461|REF_RGD_ID:2293871 8726211 Aurka aurora kinase A gene DOID:1909 melanoma ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8726211 Aurka aurora kinase A gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1353168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:18314619|REF_RGD_ID:2293872 8726211 Aurka aurora kinase A gene DOID:219 colon cancer ISO RGD:1353168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer, susceptibility to PMID:10511710|PMID:12881723|PMID:9771714 8726211 Aurka aurora kinase A gene DOID:2394 ovarian cancer susceptibility ISO RGD:1353168 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.F31I PMID:15466974|REF_RGD_ID:2293884 8726211 Aurka aurora kinase A gene DOID:2871 endometrial carcinoma ISO RGD:1353168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:16311121|REF_RGD_ID:2293878 8726211 Aurka aurora kinase A gene DOID:3008 invasive ductal carcinoma ISO RGD:1353168 D RGD:9068941 20200609 RGD protein:altered expression PMID:14693746|REF_RGD_ID:1643348 8726211 Aurka aurora kinase A gene DOID:363 uterine cancer susceptibility ISO RGD:1353168 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.F31I PMID:17599395|REF_RGD_ID:2293873 8726211 Aurka aurora kinase A gene DOID:4450 renal cell carcinoma ISO RGD:1353168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:17349527|REF_RGD_ID:1643346 8726211 Aurka aurora kinase A gene DOID:574 peripheral nervous system disease ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 8726211 Aurka aurora kinase A gene DOID:630 genetic disease ISO RGD:1353168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726211 Aurka aurora kinase A gene DOID:684 hepatocellular carcinoma ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8726211 Aurka aurora kinase A gene DOID:769 neuroblastoma ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22588779 8726211 Aurka aurora kinase A gene DOID:8634 prostate carcinoma in situ ISO RGD:1353168 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 8726211 Aurka aurora kinase A gene DOID:8634 prostate carcinoma in situ ISO RGD:1353168 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15754349|REF_RGD_ID:2293883 8726211 Aurka aurora kinase A gene DOID:9002265 Kidney Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497064 8726211 Aurka aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17898866 8726211 Aurka aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 8726211 Aurka aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15754349|REF_RGD_ID:2293883 8726211 Aurka aurora kinase A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552819 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 8726211 Aurka aurora kinase A gene DOID:9003882 Chromosomal Instability ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 8726211 Aurka aurora kinase A gene DOID:9004017 Chronic Hepatitis C ISO RGD:1353168 D RGD:9068941 20200626 RGD mRNA:increased expression:CD19+Bcell: PMID:20189883|REF_RGD_ID:32716380 8726211 Aurka aurora kinase A gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1353168 D RGD:9068941 20200609 RGD PMID:17465238|REF_RGD_ID:2293874 8726211 Aurka aurora kinase A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12124350 8726211 Aurka aurora kinase A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 8726211 Aurka aurora kinase A gene DOID:9008692 Aneuploidy ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 8726211 Aurka aurora kinase A gene DOID:9008939 Breast Neoplasms ISO RGD:1353168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497064 8726211 Aurka aurora kinase A gene DOID:9256 colorectal cancer susceptibility ISO RGD:1353168 D RGD:7240710 20230505 OMIM 8726211 Aurka aurora kinase A gene DOID:9538 multiple myeloma ISO RGD:1353168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8726239 Maea macrophage erythroblast attacher, E3 ubiquitin ligase gene DOID:1856 cherubism ISO RGD:1320456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8726239 Maea macrophage erythroblast attacher, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1320456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726239 Maea macrophage erythroblast attacher, E3 ubiquitin ligase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 8726261 Qrfp pyroglutamylated RFamide peptide gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8726261 Qrfp pyroglutamylated RFamide peptide gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1606909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 8726261 Qrfp pyroglutamylated RFamide peptide gene DOID:630 genetic disease ISO RGD:1606909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726272 Otud7b OTU deubiquitinase 7B gene DOID:0111940 immunodeficiency 42 ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8726272 Otud7b OTU deubiquitinase 7B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8726272 Otud7b OTU deubiquitinase 7B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8726272 Otud7b OTU deubiquitinase 7B gene DOID:1540 parathyroid carcinoma ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8726272 Otud7b OTU deubiquitinase 7B gene DOID:5812 MHC class II deficiency ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8726272 Otud7b OTU deubiquitinase 7B gene DOID:630 genetic disease ISO RGD:1352780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726272 Otud7b OTU deubiquitinase 7B gene DOID:9001981 Weight Loss ISO RGD:1352780 D RGD:9068941 20230706 CTD CTD Direct Evidence: therapeutic PMID:36639017 8726272 Otud7b OTU deubiquitinase 7B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8726297 Nsun4 NOP2/Sun RNA methyltransferase 4 gene DOID:630 genetic disease ISO RGD:1343230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726313 Ube2e3 ubiquitin conjugating enzyme E2 E3 gene DOID:630 genetic disease ISO RGD:1318925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726326 Bola2b bolA family member 2B gene DOID:0060019 coronin-1A deficiency ISO RGD:1605447 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION PMID:28492532 8726326 Bola2b bolA family member 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1605447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8726326 Bola2b bolA family member 2B gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1605447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:31690835 8726326 Bola2b bolA family member 2B gene DOID:12849 autistic disorder ISO RGD:1605447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8726326 Bola2b bolA family member 2B gene DOID:5419 schizophrenia ISO RGD:1605447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8726338 Anapc4 anaphase promoting complex subunit 4 gene DOID:630 genetic disease ISO RGD:1315264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726390 Majin membrane anchored junction protein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8726390 Majin membrane anchored junction protein gene DOID:1059 intellectual disability ISO RGD:1604186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8726390 Majin membrane anchored junction protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8726390 Majin membrane anchored junction protein gene DOID:2746 glycogen storage disease V ISO RGD:1604186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8726390 Majin membrane anchored junction protein gene DOID:3070 high grade glioma ISO RGD:1604186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8726390 Majin membrane anchored junction protein gene DOID:630 genetic disease ISO RGD:1604186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726437 Lhx2 LIM homeobox 2 gene DOID:630 genetic disease ISO RGD:733849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726437 Lhx2 LIM homeobox 2 gene DOID:7148 rheumatoid arthritis ISO RGD:733849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 8726455 LOC102026345 chromosome unknown open reading frame, human C19orf44 gene DOID:630 genetic disease ISO RGD:1602089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726480 Dck deoxycytidine kinase gene DOID:630 genetic disease ISO RGD:1344747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726490 Mblac1 metallo-beta-lactamase domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8726490 Mblac1 metallo-beta-lactamase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726496 Krtcap2 keratinocyte associated protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8726496 Krtcap2 keratinocyte associated protein 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8726496 Krtcap2 keratinocyte associated protein 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8726496 Krtcap2 keratinocyte associated protein 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8726496 Krtcap2 keratinocyte associated protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8726496 Krtcap2 keratinocyte associated protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8726496 Krtcap2 keratinocyte associated protein 2 gene DOID:630 genetic disease ISO RGD:1318165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726496 Krtcap2 keratinocyte associated protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8726512 Rps27l ribosomal protein S27 like gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8726512 Rps27l ribosomal protein S27 like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8726512 Rps27l ribosomal protein S27 like gene DOID:2717 Bloom syndrome ISO RGD:1344574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8726512 Rps27l ribosomal protein S27 like gene DOID:630 genetic disease ISO RGD:1344574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726512 Rps27l ribosomal protein S27 like gene DOID:9256 colorectal cancer ISO RGD:1344574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8726520 Mlf2 myeloid leukemia factor 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1314832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8726520 Mlf2 myeloid leukemia factor 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1314832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8726520 Mlf2 myeloid leukemia factor 2 gene DOID:0111621 Temtamy syndrome ISO RGD:1314832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8726520 Mlf2 myeloid leukemia factor 2 gene DOID:630 genetic disease ISO RGD:1314832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726520 Mlf2 myeloid leukemia factor 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1314832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8726546 Rbm17 RNA binding motif protein 17 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8726546 Rbm17 RNA binding motif protein 17 gene DOID:5419 schizophrenia ISO RGD:1322546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8726546 Rbm17 RNA binding motif protein 17 gene DOID:630 genetic disease ISO RGD:1322546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726546 Rbm17 RNA binding motif protein 17 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1322546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337722 8726577 Arih2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1314113 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 8726577 Arih2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:2661 myoepithelioma ISO RGD:1314113 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8726577 Arih2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1314113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726577 Arih2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1314113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8726577 Arih2 ariadne RBR E3 ubiquitin protein ligase 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1314113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8726600 Serpina7 serpin family A member 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8726600 Serpina7 serpin family A member 7 gene DOID:12849 autistic disorder ISO RGD:1351148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8726600 Serpina7 serpin family A member 7 gene DOID:1459 hypothyroidism ISO RGD:619833 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:2106883|REF_RGD_ID:1600137 8726600 Serpina7 serpin family A member 7 gene DOID:1837 diabetic ketoacidosis ISO RGD:1351148 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:6768790|REF_RGD_ID:2312332 8726600 Serpina7 serpin family A member 7 gene DOID:630 genetic disease ISO RGD:1351148 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8726600 Serpina7 serpin family A member 7 gene DOID:655 inherited metabolic disorder ISO RGD:1351148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2155256 8726600 Serpina7 serpin family A member 7 gene DOID:7998 hyperthyroidism ISO RGD:619833 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:2505856|REF_RGD_ID:1600139 8726600 Serpina7 serpin family A member 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8726600 Serpina7 serpin family A member 7 gene DOID:9001797 Inherited Thyroxine-Binding Globulin Deficiency ISO RGD:1351148 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Thyroxine-binding globulin, variant P PMID:18407078|PMID:1901689|PMID:2155256|PMID:2495303|PMID:33554479 8726600 Serpina7 serpin family A member 7 gene DOID:9005007 Thyroxine-Binding Globulin Deficiency ISO RGD:1351148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroxine-binding globulin deficiency | ClinVar Annotator: match by term: Thyroxine-binding globulin deficiency, partial PMID:1901689|PMID:2155256|PMID:2495303|PMID:25741868|PMID:28492532|PMID:3093522 8726600 Serpina7 serpin family A member 7 gene DOID:9351 diabetes mellitus ISO RGD:1351148 D RGD:9068941 20200609 RGD PMID:8742570|REF_RGD_ID:2312329 8726600 Serpina7 serpin family A member 7 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351148 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:1867879|REF_RGD_ID:2312330 8726609 Pwwp3b PWWP domain containing 3B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8726609 Pwwp3b PWWP domain containing 3B gene DOID:12849 autistic disorder ISO RGD:1349980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8726609 Pwwp3b PWWP domain containing 3B gene DOID:630 genetic disease ISO RGD:1349980 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726626 Ptn pleiotrophin gene DOID:11446 sciatic neuropathy ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:altered expression:dorsal root ganglia (rat) PMID:18365878|REF_RGD_ID:9831453 8726626 Ptn pleiotrophin gene DOID:11832 visual epilepsy ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, piriform cortex (rat) PMID:8453763|REF_RGD_ID:9831456 8726626 Ptn pleiotrophin gene DOID:13619 extrahepatic cholestasis ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:18225978|REF_RGD_ID:2316551 8726626 Ptn pleiotrophin gene DOID:14330 Parkinson's disease treatment ISO RGD:3444 D RGD:9068941 20200609 RGD PMID:19615368|REF_RGD_ID:10044022 8726626 Ptn pleiotrophin gene DOID:224 transient cerebral ischemia ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, vasculature, macrophage (rat) PMID:9570800|REF_RGD_ID:9831440 8726626 Ptn pleiotrophin gene DOID:305 carcinoma ISO RGD:736479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8726626 Ptn pleiotrophin gene DOID:3068 glioblastoma ISO RGD:736479 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:14692702|REF_RGD_ID:151660507 8726626 Ptn pleiotrophin gene DOID:3950 adrenal carcinoma ISO RGD:736479 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:1464602|REF_RGD_ID:9831442 8726626 Ptn pleiotrophin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8726626 Ptn pleiotrophin gene DOID:5082 liver cirrhosis ISO RGD:3444 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:18381592|REF_RGD_ID:9834946 8726626 Ptn pleiotrophin gene DOID:5844 myocardial infarction ISO RGD:3444 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:17925408|REF_RGD_ID:10044023 8726626 Ptn pleiotrophin gene DOID:630 genetic disease ISO RGD:736479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726626 Ptn pleiotrophin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8726626 Ptn pleiotrophin gene DOID:9000641 Pain severity ISO RGD:11190 D RGD:9068941 20200609 RGD PMID:20826137|REF_RGD_ID:10043829 8726626 Ptn pleiotrophin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8726626 Ptn pleiotrophin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:9814819|REF_RGD_ID:9831448 8726626 Ptn pleiotrophin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3444 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:21224495|REF_RGD_ID:10043833 8726626 Ptn pleiotrophin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8726626 Ptn pleiotrophin gene DOID:9007633 Body Weight ISO RGD:736479 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36566969 8726626 Ptn pleiotrophin gene DOID:9008444 Skeletal Muscle Injuries ISO RGD:3444 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:soleus muscle (rat) PMID:15160487|REF_RGD_ID:10044016 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:25741868|PMID:28492532 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318860 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0080600 COVID-19 ISO RGD:1318860 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0111671 primary hyperoxaluria type 2 ISO RGD:1318860 D RGD:7240710 20180130 OMIM 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:0111671 primary hyperoxaluria type 2 ISO RGD:1318860 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:10484776|PMID:11030416|PMID:11477177|PMID:12185464|PMID:14635115|PMID:14987413|PMID:15327387|PMID:16199547|PMID:16306119|PMID:17510093|PMID:17576681|PMID:18560364|PMID:19296982|PMID:20301742|PMID:24033266|PMID:24116921|PMID:25410531|PMID:25525159|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26484032|PMID:26542998|PMID:28492532|PMID:28553045|PMID:28569194|PMID:28893421|PMID:29068142|PMID:29319775|PMID:30889567|PMID:31078535|PMID:31215412|PMID:31685312|PMID:34805638|PMID:35149915|PMID:35678848|PMID:36185032|PMID:36260161|PMID:37139236|PMID:9536098 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:12679 nephrocalcinosis ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10484776|PMID:11030416|PMID:12185464|PMID:14635115|PMID:15327387|PMID:17576681|PMID:18560364|PMID:24033266|PMID:24116921|PMID:25644115|PMID:25741868|PMID:28492532|PMID:28893421|PMID:9536098 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:2977 primary hyperoxaluria ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:11030416|PMID:14635115|PMID:24116921|PMID:25629080|PMID:25644115|PMID:25741868|PMID:28492532|PMID:31685312 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:630 genetic disease ISO RGD:1318860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318860 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8726639 Grhpr glyoxylate and hydroxypyruvate reductase gene DOID:9870 galactosemia ISO RGD:1318860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8726655 Slc28a1 solute carrier family 28 member 1 gene DOID:2717 Bloom syndrome ISO RGD:733249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8726655 Slc28a1 solute carrier family 28 member 1 gene DOID:630 genetic disease ISO RGD:733249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726655 Slc28a1 solute carrier family 28 member 1 gene DOID:9002189 High Myopia ISO RGD:733249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8726655 Slc28a1 solute carrier family 28 member 1 gene DOID:9002276 Uridine-Cytidineuria ISO RGD:733249 D RGD:7240710 20190626 OMIM 8726655 Slc28a1 solute carrier family 28 member 1 gene DOID:9002276 Uridine-Cytidineuria ISO RGD:733249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uridine-cytidineuria PMID:14978229|PMID:21998139|PMID:30847922 8726655 Slc28a1 solute carrier family 28 member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16837820 8726655 Slc28a1 solute carrier family 28 member 1 gene DOID:9256 colorectal cancer ISO RGD:733249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8726680 Mrps5 mitochondrial ribosomal protein S5 gene DOID:3910 lung adenocarcinoma ISO RGD:1318020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8726680 Mrps5 mitochondrial ribosomal protein S5 gene DOID:630 genetic disease ISO RGD:1318020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726680 Mrps5 mitochondrial ribosomal protein S5 gene DOID:9006205 Animal Disease Models ISO RGD:1318020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8726704 Gna12 G protein subunit alpha 12 gene DOID:0111957 immunodeficiency 11A ISO RGD:732491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 8726704 Gna12 G protein subunit alpha 12 gene DOID:630 genetic disease ISO RGD:732491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726704 Gna12 G protein subunit alpha 12 gene DOID:8577 ulcerative colitis ISO RGD:732491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 8726704 Gna12 G protein subunit alpha 12 gene DOID:9007102 Myocardial Ischemia ISO RGD:732491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8726712 Magoh mago homolog, exon junction complex subunit gene DOID:630 genetic disease ISO RGD:1313047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726727 Ptpn18 protein tyrosine phosphatase non-receptor type 18 gene DOID:630 genetic disease ISO RGD:1323122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726727 Ptpn18 protein tyrosine phosphatase non-receptor type 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8726752 Ppil4 peptidylprolyl isomerase like 4 gene DOID:630 genetic disease ISO RGD:1322302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726779 Acaa2 acetyl-CoA acyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:733990 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8726779 Acaa2 acetyl-CoA acyltransferase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:733990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8726779 Acaa2 acetyl-CoA acyltransferase 2 gene DOID:630 genetic disease ISO RGD:733990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726779 Acaa2 acetyl-CoA acyltransferase 2 gene DOID:8398 osteoarthritis ISO RGD:733990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8726793 Tmed5 transmembrane p24 trafficking protein 5 gene DOID:630 genetic disease ISO RGD:1349482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726807 Fancd2 FA complementation group D2 gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 8726807 Fancd2 FA complementation group D2 gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1343234 D RGD:7240710 20180130 OMIM 8726807 Fancd2 FA complementation group D2 gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1343234 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D2 PMID:11239453|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25168418|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:27041517|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30256826|PMID:30306255|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32581362|PMID:32659967|PMID:32867815|PMID:33558524|PMID:34327028|PMID:34585473|PMID:9536098 8726807 Fancd2 FA complementation group D2 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:24728327|PMID:25168418|PMID:25741868|PMID:25927356|PMID:28492532 8726807 Fancd2 FA complementation group D2 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 8726807 Fancd2 FA complementation group D2 gene DOID:10629 microphthalmia ISO RGD:1615723 D RGD:9068941 20200609 RGD PMID:12893777|REF_RGD_ID:11344906 8726807 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:21356188|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25927356|PMID:26633542|PMID:27041517|PMID:28492532|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30713837|PMID:31586946|PMID:33558524|PMID:9536098 8726807 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098 8726807 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:9536098 8726807 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:34585473|PMID:9536098 8726807 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33558524|PMID:34585473|PMID:9536098 8726807 Fancd2 FA complementation group D2 gene DOID:13636 Fanconi anemia ISO RGD:1343234 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:11239453|PMID:14695169|PMID:16199547|PMID:16280053|PMID:17308347|PMID:17436244|PMID:17576681|PMID:21356188|PMID:22720145|PMID:22828868|PMID:23285130|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25640679|PMID:25703294|PMID:25741868|PMID:25927356|PMID:26580448|PMID:26633542|PMID:26740942|PMID:27041517|PMID:27153395|PMID:27931139|PMID:28202063|PMID:28386063|PMID:28492532|PMID:28678401|PMID:29625052|PMID:29659569|PMID:30250602|PMID:30256826|PMID:30306255|PMID:30713837|PMID:30716324|PMID:31586946|PMID:32546565|PMID:32659967|PMID:33270637|PMID:33558524|PMID:34327028|PMID:34585473|PMID:9536098 8726807 Fancd2 FA complementation group D2 gene DOID:1612 breast cancer ISO RGD:1343234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532|PMID:33558524 8726807 Fancd2 FA complementation group D2 gene DOID:2394 ovarian cancer ISO RGD:1343234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8726807 Fancd2 FA complementation group D2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1615723 D RGD:9068941 20200609 RGD PMID:20935219|REF_RGD_ID:11344907 8726807 Fancd2 FA complementation group D2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17436244|PMID:21356188|PMID:24728327|PMID:25741868|PMID:28492532 8726807 Fancd2 FA complementation group D2 gene DOID:630 genetic disease ISO RGD:1343234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11239453|PMID:17436244|PMID:25741868|PMID:28492532 8726807 Fancd2 FA complementation group D2 gene DOID:684 hepatocellular carcinoma ISO RGD:1343234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8726807 Fancd2 FA complementation group D2 gene DOID:687 hepatoblastoma ISO RGD:1343234 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532|PMID:28678401|PMID:30306255 8726807 Fancd2 FA complementation group D2 gene DOID:8923 skin melanoma ISO RGD:1343234 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin,nucleus: PMID:21697891|REF_RGD_ID:11046262 8726807 Fancd2 FA complementation group D2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8726807 Fancd2 FA complementation group D2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8726807 Fancd2 FA complementation group D2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1343234 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 8726807 Fancd2 FA complementation group D2 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 8726807 Fancd2 FA complementation group D2 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1615723 D RGD:9068941 20200609 RGD PMID:12893777|REF_RGD_ID:11344906 8726807 Fancd2 FA complementation group D2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343234 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer PMID:25741868 8726807 Fancd2 FA complementation group D2 gene DOID:9008086 Developmental Disabilities ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25927356|PMID:28492532 8726807 Fancd2 FA complementation group D2 gene DOID:9008539 Perinatal Death ISO RGD:1615723 D RGD:9068941 20200609 RGD PMID:12893777|REF_RGD_ID:11344906 8726807 Fancd2 FA complementation group D2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1343234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 8726807 Fancd2 FA complementation group D2 gene DOID:9119 acute myeloid leukemia ISO RGD:1343234 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:17436244|PMID:23613520|PMID:25741868|PMID:28492532 8726864 Nfatc2 nuclear factor of activated T cells 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1317023 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 8726864 Nfatc2 nuclear factor of activated T cells 2 gene DOID:630 genetic disease ISO RGD:1317023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726864 Nfatc2 nuclear factor of activated T cells 2 gene DOID:6432 pulmonary hypertension ISO RGD:1307690 D RGD:9068941 20200609 RGD PMID:17596340|REF_RGD_ID:1627651 8726864 Nfatc2 nuclear factor of activated T cells 2 gene DOID:6432 pulmonary hypertension ISO RGD:1317023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27522126 8726864 Nfatc2 nuclear factor of activated T cells 2 gene DOID:863 nervous system disease ISO RGD:1317023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 8726864 Nfatc2 nuclear factor of activated T cells 2 gene DOID:9008054 JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA ISO RGD:1317023 D RGD:7240710 20230505 OMIM 8726864 Nfatc2 nuclear factor of activated T cells 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 8726904 Eloc elongin C gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:733902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 8726904 Eloc elongin C gene DOID:4450 renal cell carcinoma ISO RGD:733902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 8726904 Eloc elongin C gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:733902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 8726924 Eif3d eukaryotic translation initiation factor 3 subunit D gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1352969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8726924 Eif3d eukaryotic translation initiation factor 3 subunit D gene DOID:10591 pre-eclampsia ISO RGD:1352969 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34520790 8726924 Eif3d eukaryotic translation initiation factor 3 subunit D gene DOID:630 genetic disease ISO RGD:1352969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726944 Rab28 RAB28, member RAS oncogene family gene DOID:0050572 cone-rod dystrophy ISO RGD:736462 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:23746546|PMID:25741868|PMID:28492532|PMID:36909829 8726944 Rab28 RAB28, member RAS oncogene family gene DOID:0050795 cone dystrophy ISO RGD:736462 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:36909829 8726944 Rab28 RAB28, member RAS oncogene family gene DOID:0111024 cone-rod dystrophy 18 ISO RGD:736462 D RGD:7240710 20180130 OMIM 8726944 Rab28 RAB28, member RAS oncogene family gene DOID:0111024 cone-rod dystrophy 18 ISO RGD:736462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 18 PMID:23746546|PMID:23806086|PMID:24088041|PMID:25356532|PMID:25741868|PMID:28492532 8726944 Rab28 RAB28, member RAS oncogene family gene DOID:10584 retinitis pigmentosa ISO RGD:736462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 8726944 Rab28 RAB28, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8726944 Rab28 RAB28, member RAS oncogene family gene DOID:8501 fundus dystrophy ISO RGD:736462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 8726959 Sox2 SRY-box transcription factor 2 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:21689966|REF_RGD_ID:8661665 8726959 Sox2 SRY-box transcription factor 2 gene DOID:0060857 septooptic dysplasia ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:16283891|PMID:16892407|PMID:16932809|PMID:18285410|PMID:18831064|PMID:24804704|PMID:25741868|PMID:26250054|PMID:27206652|PMID:28492532|PMID:35885948 8726959 Sox2 SRY-box transcription factor 2 gene DOID:0111546 Currarino syndrome ISO RGD:1344695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8726959 Sox2 SRY-box transcription factor 2 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1344695 D RGD:7240710 20180130 OMIM 8726959 Sox2 SRY-box transcription factor 2 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1344695 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:12002146|PMID:12612584|PMID:15346919|PMID:15389708|PMID:15812812|PMID:16145681|PMID:16283891|PMID:16470798|PMID:16543359|PMID:16712695|PMID:16892407|PMID:16932809|PMID:17219395|PMID:17522144|PMID:18285410|PMID:18385377|PMID:18385794|PMID:18831064|PMID:19254784|PMID:19921648|PMID:20803647|PMID:21326281|PMID:22171155|PMID:22421044|PMID:23701296|PMID:24498598|PMID:24804704|PMID:25542770|PMID:25741868|PMID:26250054|PMID:26938784|PMID:27206652|PMID:27427475|PMID:28121235|PMID:28492532|PMID:30450772|PMID:32870266|PMID:33914258|PMID:34367232|PMID:35885948 8726959 Sox2 SRY-box transcription factor 2 gene DOID:10629 microphthalmia ISO RGD:1344695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 8726959 Sox2 SRY-box transcription factor 2 gene DOID:10811 nasal cavity cancer ISO RGD:1344695 D RGD:9068941 20200609 RGD DNA:amplification PMID:23544055|REF_RGD_ID:8661654 8726959 Sox2 SRY-box transcription factor 2 gene DOID:11054 urinary bladder cancer ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29396848 8726959 Sox2 SRY-box transcription factor 2 gene DOID:1115 sarcoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 8726959 Sox2 SRY-box transcription factor 2 gene DOID:12270 coloboma ISO RGD:1344695 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chorioretinal coloboma PMID:25741868 8726959 Sox2 SRY-box transcription factor 2 gene DOID:12271 aniridia ISO RGD:1344695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 8726959 Sox2 SRY-box transcription factor 2 gene DOID:13938 amenorrhea ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 8726959 Sox2 SRY-box transcription factor 2 gene DOID:1574 alcohol use disorder ISO RGD:1565646 D RGD:9068941 20231221 RGD mRNA:decreased expression:hippocampus (rat) PMID:30277635|REF_RGD_ID:401938665 8726959 Sox2 SRY-box transcription factor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:21822303|PMID:22832207|REF_RGD_ID:8661657|REF_RGD_ID:8661663 8726959 Sox2 SRY-box transcription factor 2 gene DOID:1612 breast cancer treatment ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:22561374|REF_RGD_ID:8661656 8726959 Sox2 SRY-box transcription factor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19801978 8726959 Sox2 SRY-box transcription factor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1344695 D RGD:9068941 20200609 RGD protein:increased expression:mammalian vulva, epithelium PMID:23518916|REF_RGD_ID:8661666 8726959 Sox2 SRY-box transcription factor 2 gene DOID:1909 melanoma disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:21410764|REF_RGD_ID:8661664 8726959 Sox2 SRY-box transcription factor 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD PMID:22899292|REF_RGD_ID:8661672 8726959 Sox2 SRY-box transcription factor 2 gene DOID:3347 osteosarcoma ISO RGD:1344695 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34508303 8726959 Sox2 SRY-box transcription factor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19801978 8726959 Sox2 SRY-box transcription factor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25184679 8726959 Sox2 SRY-box transcription factor 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1344695 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 8726959 Sox2 SRY-box transcription factor 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8726959 Sox2 SRY-box transcription factor 2 gene DOID:6000 congestive heart failure ISO RGD:1565646 D RGD:9068941 20230202 RGD PMID:34321385|REF_RGD_ID:155882552 8726959 Sox2 SRY-box transcription factor 2 gene DOID:630 genetic disease ISO RGD:1344695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12002146|PMID:12923055|PMID:16582099|PMID:16932809|PMID:17219395|PMID:22421044|PMID:24804704|PMID:28492532 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1558014 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:23169458|REF_RGD_ID:8661675 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1565646 D RGD:9068941 20200609 RGD PMID:23169458|REF_RGD_ID:8661675 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1344695 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:24382260|REF_RGD_ID:8661670 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9002049 Anophthalmia ISO RGD:1344695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9003623 Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System ISO RGD:1344695 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Optic nerve hypoplasia and abnormalities of the central nervous system PMID:16932809|PMID:22421044|PMID:25741868|PMID:28492532 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9004866 Ataxia ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29732603 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19801978 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1565646 D RGD:9068941 20200609 RGD PMID:23828673|REF_RGD_ID:8661677 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1565646 D RGD:9068941 20230202 RGD PMID:34321385|REF_RGD_ID:155882552 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9007920 Thoracic Neoplasms ISO RGD:1344695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1344695 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.D123G (human) PMID:19471311|REF_RGD_ID:8661661 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1344695 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:19921648|REF_RGD_ID:8661660 8726959 Sox2 SRY-box transcription factor 2 gene DOID:9008582 Developmental Disease ISO RGD:1344695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8726965 Klk10 kallikrein related peptidase 10 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:1606032 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:12788170|REF_RGD_ID:2314849 8726965 Klk10 kallikrein related peptidase 10 gene DOID:10283 prostate cancer susceptibility ISO RGD:1606032 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.A50S (human) PMID:11920956|REF_RGD_ID:2314851 8726965 Klk10 kallikrein related peptidase 10 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1606032 D RGD:9068941 20200609 RGD PMID:18766180|REF_RGD_ID:2314846 8726965 Klk10 kallikrein related peptidase 10 gene DOID:363 uterine cancer ISO RGD:1606032 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium, serum PMID:16647913|REF_RGD_ID:2314848 8726965 Klk10 kallikrein related peptidase 10 gene DOID:630 genetic disease ISO RGD:1606032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726965 Klk10 kallikrein related peptidase 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17182177 8726965 Klk10 kallikrein related peptidase 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20686372 8726965 Klk10 kallikrein related peptidase 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8726965 Klk10 kallikrein related peptidase 10 gene DOID:9004207 Testicular Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:11920956|REF_RGD_ID:2314851 8726965 Klk10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16800735 8726965 Klk10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 RGD PMID:17585892|REF_RGD_ID:2314847 8726965 Klk10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1606032 D RGD:9068941 20200609 RGD DNA:hypermethylation:exon (human) PMID:19150938|REF_RGD_ID:2314845 8726965 Klk10 kallikrein related peptidase 10 gene DOID:9008939 Breast Neoplasms severity ISO RGD:1606032 D RGD:9068941 20200609 RGD PMID:12087468|REF_RGD_ID:2314850 8726988 Ncoa4 nuclear receptor coactivator 4 gene DOID:10283 prostate cancer ISO RGD:1348400 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:12368219|REF_RGD_ID:2293535 8726988 Ncoa4 nuclear receptor coactivator 4 gene DOID:10283 prostate cancer severity ISO RGD:1348400 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15166229|REF_RGD_ID:2293534 8726988 Ncoa4 nuclear receptor coactivator 4 gene DOID:11372 megacolon ISO RGD:1348400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8726988 Ncoa4 nuclear receptor coactivator 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1348400 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16580389|REF_RGD_ID:2293533 8726988 Ncoa4 nuclear receptor coactivator 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1348400 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:11561770|REF_RGD_ID:2293536 8726988 Ncoa4 nuclear receptor coactivator 4 gene DOID:4001 ovarian carcinoma ISO RGD:1348400 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:11161850|REF_RGD_ID:2293537 8726988 Ncoa4 nuclear receptor coactivator 4 gene DOID:630 genetic disease ISO RGD:1348400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8726988 Ncoa4 nuclear receptor coactivator 4 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1348400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 8727017 Padi2 peptidyl arginine deiminase 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348232 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8727017 Padi2 peptidyl arginine deiminase 2 gene DOID:0080600 COVID-19 ISO RGD:1348232 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8727017 Padi2 peptidyl arginine deiminase 2 gene DOID:630 genetic disease ISO RGD:1348232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727017 Padi2 peptidyl arginine deiminase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1348232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis 8727017 Padi2 peptidyl arginine deiminase 2 gene DOID:9008037 Paragangliomas 4 ISO RGD:1348232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 4 PMID:18057081 8727017 Padi2 peptidyl arginine deiminase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:16258955|PMID:19351833|PMID:23666964|PMID:28492532 8727037 Ccdc142 coiled-coil domain containing 142 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1606203 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8727037 Ccdc142 coiled-coil domain containing 142 gene DOID:543 dystonia ISO RGD:1606203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8727037 Ccdc142 coiled-coil domain containing 142 gene DOID:630 genetic disease ISO RGD:1606203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727037 Ccdc142 coiled-coil domain containing 142 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1606203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8727052 Mroh2b maestro heat like repeat family member 2B gene DOID:630 genetic disease ISO RGD:1604530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727052 Mroh2b maestro heat like repeat family member 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8727100 Ubald2 UBA like domain containing 2 gene DOID:630 genetic disease ISO RGD:1605547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:0050868 hepatocellular adenoma ISO RGD:1305879 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:23912631|REF_RGD_ID:9586718 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1314176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:0060075 estrogen-receptor positive breast cancer disease_progression ISO RGD:1314176 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:23887673|REF_RGD_ID:9586721 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1314176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1314176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1314176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:2841 asthma ISO RGD:1305879 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:20423833|REF_RGD_ID:9491823 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1314176 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1314176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1305879 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:23912631|REF_RGD_ID:9586718 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1314176 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15221992|REF_RGD_ID:2293206 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:8893 psoriasis ISO RGD:1314176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 8727140 Carm1 coactivator associated arginine methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314176 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15221992|REF_RGD_ID:2293206 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:33625952|REF_RGD_ID:127229925 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1342902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:0080160 cytomegalovirus retinitis ISO RGD:734463 D RGD:9068941 20210604 RGD protein:increased expression:optic cup, retina (mouse) PMID:29853772|REF_RGD_ID:127229940 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1342902 D RGD:9068941 20210604 RGD mRNA:increased expression:liver (human) PMID:21425308|REF_RGD_ID:127229938 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:10584 retinitis pigmentosa ISO RGD:734463 D RGD:9068941 20200609 RGD PMID:22908283|REF_RGD_ID:7777166 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:10844 Japanese encephalitis ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:32265853|REF_RGD_ID:127229907 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342902 D RGD:9068941 20210604 RGD associated with avian influenza;mRNA, protein:increased expression, increased phosphorylation:lung (human) PMID:31080811|REF_RGD_ID:127229928 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:11573 listeriosis exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:30975711|REF_RGD_ID:127229912 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:33303545|REF_RGD_ID:127229923 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:1508 candidiasis exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:30944411|REF_RGD_ID:127229913 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:182 calcinosis ISO RGD:1342902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:2723 dermatitis ISO RGD:734463 D RGD:9068941 20200609 RGD PMID:22000287|REF_RGD_ID:7777169 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:3298 vaccinia exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:19524513|REF_RGD_ID:127229939 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:399 tuberculosis exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:29892302|REF_RGD_ID:127229926 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:4079 heart valve disease ISO RGD:1342902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:4492 avian influenza ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:28423682|REF_RGD_ID:127229942 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:1342902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:824 periodontitis treatment ISO RGD:734463 D RGD:9068941 20210604 RGD associated with Gram-Negative Bacterial Infections PMID:31758083|REF_RGD_ID:127229920 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:8466 retinal degeneration ISO RGD:734463 D RGD:9068941 20200609 RGD PMID:23954861|REF_RGD_ID:7777167 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:8566 herpes simplex exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:25316792|PMID:30050136|REF_RGD_ID:127229943|REF_RGD_ID:40902865 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:874 bacterial pneumonia ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:28387756|REF_RGD_ID:127229944 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9000238 Acute-On-Chronic Liver Failure exacerbates ISO RGD:1342902 D RGD:9068941 20210604 RGD associated with Chronic Hepatitis B;mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:30996211|REF_RGD_ID:127229914 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1342902 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9000371 influenza A exacerbates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:27321907|PMID:32200799|REF_RGD_ID:127229911|REF_RGD_ID:127229922 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9000371 influenza A susceptibility ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:28410401|REF_RGD_ID:127229918 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9001004 Chronic Periodontitis ISO RGD:1342902 D RGD:9068941 20210604 RGD protein:increased expression,'increased phosphorylation:gingiva (human) PMID:30814594|REF_RGD_ID:127229937 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9001049 Staphylococcal Pneumonia treatment ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:25445964|REF_RGD_ID:127229910 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9001415 Mycobacterium Infections ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:28401933|REF_RGD_ID:127229921 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9002834 Herpesviridae Infections ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:31985117|REF_RGD_ID:127229917 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9004379 Vesicular Stomatitis ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:25326752|REF_RGD_ID:127229916 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9004484 Sepsis ameliorates ISO RGD:1332101 D RGD:9068941 20210604 RGD PMID:32152555|REF_RGD_ID:127229919 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9004484 Sepsis ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:22195746|REF_RGD_ID:127229909 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9004484 Sepsis no_association ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:23835476|REF_RGD_ID:127229908 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1342902 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9005966 Staphylococcal Skin Infections ameliorates ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:27524612|REF_RGD_ID:127229915 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:734463 D RGD:9068941 20210604 RGD PMID:29847649|REF_RGD_ID:127229927 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342902 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26769846 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734463 D RGD:9068941 20210604 RGD protein:increased expression:liver (mouse) PMID:28205631|REF_RGD_ID:127229945 8727158 Ripk3 receptor interacting serine/threonine kinase 3 gene DOID:9452 steatotic liver disease ISO RGD:1342902 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26769846 8727192 Ppil3 peptidylprolyl isomerase like 3 gene DOID:630 genetic disease ISO RGD:1350391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727192 Ppil3 peptidylprolyl isomerase like 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1350391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8727192 Ppil3 peptidylprolyl isomerase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8727192 Ppil3 peptidylprolyl isomerase like 3 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1350391 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8727212 Pdxdc1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1604634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8727212 Pdxdc1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8727212 Pdxdc1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:4450 renal cell carcinoma ISO RGD:1604634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 8727212 Pdxdc1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1604634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8727212 Pdxdc1 pyridoxal dependent decarboxylase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727236 Dok3 docking protein 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1323508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8727236 Dok3 docking protein 3 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1323508 D RGD:9068941 20220512 RGD DNA:SNP:3'utr: (rs2279398) (human) PMID:27354594|REF_RGD_ID:152177496 8727236 Dok3 docking protein 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1323508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8727236 Dok3 docking protein 3 gene DOID:14748 Sotos syndrome ISO RGD:1323508 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8727236 Dok3 docking protein 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1323509 D RGD:9068941 20220519 RGD PMID:20139980|REF_RGD_ID:152177521 8727236 Dok3 docking protein 3 gene DOID:630 genetic disease ISO RGD:1323508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727236 Dok3 docking protein 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1323508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20139980 8727236 Dok3 docking protein 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8727246 Thbs3 thrombospondin 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8727246 Thbs3 thrombospondin 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8727246 Thbs3 thrombospondin 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8727246 Thbs3 thrombospondin 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8727246 Thbs3 thrombospondin 3 gene DOID:10283 prostate cancer ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8727246 Thbs3 thrombospondin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8727246 Thbs3 thrombospondin 3 gene DOID:5812 MHC class II deficiency ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8727246 Thbs3 thrombospondin 3 gene DOID:630 genetic disease ISO RGD:1314326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727246 Thbs3 thrombospondin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8727280 Loxl4 lysyl oxidase like 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1318447 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8727280 Loxl4 lysyl oxidase like 4 gene DOID:11054 urinary bladder cancer ISO RGD:1318447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17456585 8727280 Loxl4 lysyl oxidase like 4 gene DOID:630 genetic disease ISO RGD:1318447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727298 Cdc42 cell division cycle 42 gene DOID:0060369 Parkinson's disease 6 ISO RGD:730976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8727298 Cdc42 cell division cycle 42 gene DOID:0060775 microvillus inclusion disease ISO RGD:730977 D RGD:9068941 20220825 MouseDO OMIM:251850 8727298 Cdc42 cell division cycle 42 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:730976 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8727298 Cdc42 cell division cycle 42 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:730976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8727298 Cdc42 cell division cycle 42 gene DOID:10652 Alzheimer's disease ISO RGD:730976 D RGD:9068941 20200609 RGD PMID:10817927|REF_RGD_ID:5688277 8727298 Cdc42 cell division cycle 42 gene DOID:1793 pancreatic cancer severity ISO RGD:730976 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (human) PMID:28181096|REF_RGD_ID:13452244 8727298 Cdc42 cell division cycle 42 gene DOID:305 carcinoma ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8727298 Cdc42 cell division cycle 42 gene DOID:3312 bipolar disorder ISO RGD:730976 D RGD:9068941 20200609 RGD PMID:18391128|REF_RGD_ID:5688274 8727298 Cdc42 cell division cycle 42 gene DOID:3328 temporal lobe epilepsy ISO RGD:71043 D RGD:9068941 20200609 RGD PMID:19700661|REF_RGD_ID:5688272 8727298 Cdc42 cell division cycle 42 gene DOID:3355 fibrosarcoma ISO RGD:730976 D RGD:9068941 20200609 RGD PMID:17971488|REF_RGD_ID:5688275 8727298 Cdc42 cell division cycle 42 gene DOID:4483 rhinitis ISO RGD:730976 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal turbinate PMID:19432938|REF_RGD_ID:5688273 8727298 Cdc42 cell division cycle 42 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8727298 Cdc42 cell division cycle 42 gene DOID:630 genetic disease ISO RGD:730976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28991257|PMID:29335451|PMID:29394990|PMID:33936654 8727298 Cdc42 cell division cycle 42 gene DOID:674 cleft palate ISO RGD:730977 D RGD:9068941 20220922 MouseDO 8727298 Cdc42 cell division cycle 42 gene DOID:9000039 Spinal Cord Injuries ISO RGD:71043 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:15736231|REF_RGD_ID:5688276 8727298 Cdc42 cell division cycle 42 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 8727298 Cdc42 cell division cycle 42 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8727298 Cdc42 cell division cycle 42 gene DOID:9002457 Experimental Arthritis ISO RGD:730977 D RGD:9068941 20200609 RGD protein:increased activation:bone marrow, macrophage PMID:21266780|REF_RGD_ID:5688271 8727298 Cdc42 cell division cycle 42 gene DOID:9003091 Noonan Like Syndrome ISO RGD:730976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan-like syndrome PMID:25741868|PMID:29394990 8727298 Cdc42 cell division cycle 42 gene DOID:9004009 Reperfusion Injury ISO RGD:71043 D RGD:9068941 20200609 RGD protein:increased activation:hippocampus CA1 PMID:17161586|REF_RGD_ID:2298583 8727298 Cdc42 cell division cycle 42 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28991257|PMID:29335451|PMID:29394990|PMID:33936654 8727298 Cdc42 cell division cycle 42 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8727298 Cdc42 cell division cycle 42 gene DOID:9005749 Necrosis ISO RGD:730976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430526 8727298 Cdc42 cell division cycle 42 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:730976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8727298 Cdc42 cell division cycle 42 gene DOID:9006962 Takenouchi-Kosaki Syndrome ISO RGD:730976 D RGD:7240710 20180130 OMIM 8727298 Cdc42 cell division cycle 42 gene DOID:9006962 Takenouchi-Kosaki Syndrome ISO RGD:730976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome PMID:25741868|PMID:26386261|PMID:26708094|PMID:26795593|PMID:27513193|PMID:28492532|PMID:28991257|PMID:29335451|PMID:29394990|PMID:33936654 8727318 Ppy pancreatic polypeptide gene DOID:630 genetic disease ISO RGD:737129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727328 Eif4e3 eukaryotic translation initiation factor 4E family member 3 gene DOID:0080600 COVID-19 ISO RGD:1348241 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8727328 Eif4e3 eukaryotic translation initiation factor 4E family member 3 gene DOID:630 genetic disease ISO RGD:1348241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727328 Eif4e3 eukaryotic translation initiation factor 4E family member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8727339 Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1343877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8727339 Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:0112117 combined oxidative phosphorylation deficiency 40 ISO RGD:1343877 D RGD:7240710 20200429 OMIM 8727339 Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:0112117 combined oxidative phosphorylation deficiency 40 ISO RGD:1343877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 PMID:17576681|PMID:25741868|PMID:26741492|PMID:28492532|PMID:29440775|PMID:30283131|PMID:9536098 8727339 Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:630 genetic disease ISO RGD:1343877 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8727339 Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1343877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial PMID:26741492|PMID:30283131 8727339 Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 gene DOID:9008086 Developmental Disabilities ISO RGD:1343877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8727354 Sowahc sosondowah ankyrin repeat domain family member C gene DOID:630 genetic disease ISO RGD:1349983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727359 Rapgef5 Rap guanine nucleotide exchange factor 5 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1343059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 8727359 Rapgef5 Rap guanine nucleotide exchange factor 5 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1343059 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 8727359 Rapgef5 Rap guanine nucleotide exchange factor 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8727359 Rapgef5 Rap guanine nucleotide exchange factor 5 gene DOID:630 genetic disease ISO RGD:1343059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727359 Rapgef5 Rap guanine nucleotide exchange factor 5 gene DOID:670 amphetamine abuse ISO RGD:1343059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8727359 Rapgef5 Rap guanine nucleotide exchange factor 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343059 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 8727393 Caps2 calcyphosine 2 gene DOID:630 genetic disease ISO RGD:1320373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727424 Tatdn1 TatD DNase domain containing 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1313148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8727424 Tatdn1 TatD DNase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727424 Tatdn1 TatD DNase domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8727444 Ammecr1 AMMECR nuclear protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8727444 Ammecr1 AMMECR nuclear protein 1 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1347096 D RGD:7240710 20190315 OMIM 8727444 Ammecr1 AMMECR nuclear protein 1 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis PMID:21681106|PMID:25741868|PMID:27811305|PMID:28089922|PMID:28492532|PMID:29174631|PMID:29193635 8727444 Ammecr1 AMMECR nuclear protein 1 gene DOID:12849 autistic disorder ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8727444 Ammecr1 AMMECR nuclear protein 1 gene DOID:5419 schizophrenia ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8727444 Ammecr1 AMMECR nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1347096 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8727444 Ammecr1 AMMECR nuclear protein 1 gene DOID:9007661 Dwarfism ISO RGD:1347096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8727457 Ripk2 receptor interacting serine/threonine kinase 2 gene DOID:1024 leprosy ISO RGD:1319357 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 8727457 Ripk2 receptor interacting serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1319357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727457 Ripk2 receptor interacting serine/threonine kinase 2 gene DOID:8577 ulcerative colitis ISO RGD:1319357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20452301 8727485 Tspyl2 TSPY like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8727485 Tspyl2 TSPY like 2 gene DOID:12849 autistic disorder ISO RGD:1346364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8727485 Tspyl2 TSPY like 2 gene DOID:630 genetic disease ISO RGD:1346364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727485 Tspyl2 TSPY like 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 8727505 Pink1 PTEN induced kinase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1314001 D RGD:7240710 20180130 OMIM 8727505 Pink1 PTEN induced kinase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1314001 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PINK1-Related Parkinsonism | ClinVar Annotator: match by term: Parkinson disease 6 | ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 PMID:15087508|PMID:15349860|PMID:15349870|PMID:15349871|PMID:15584030|PMID:15596610|PMID:15824318|PMID:15955953|PMID:15970950|PMID:16009891|PMID:16199547|PMID:16207217|PMID:16207731|PMID:16257123|PMID:16401616|PMID:16482571|PMID:16547921|PMID:16632486|PMID:16702191|PMID:16755580|PMID:16769864|PMID:16805805|PMID:16966503|PMID:16969854|PMID:17030667|PMID:17055324|PMID:17172567|PMID:17415511|PMID:17576681|PMID:17579517|PMID:17960343|PMID:18003639|PMID:18286320|PMID:18330912|PMID:18359116|PMID:18403612|PMID:18486522|PMID:18524835|PMID:18541801|PMID:18546294|PMID:18685134|PMID:18704525|PMID:18785233|PMID:19087301|PMID:19229105|PMID:19242547|PMID:19351622|PMID:19847793|PMID:19880420|PMID:19889566|PMID:19890973|PMID:20126261|PMID:20356854|PMID:20506312|PMID:20547144|PMID:20558144|PMID:20798600|PMID:20981092|PMID:21412950|PMID:21488273|PMID:21534944|PMID:21925922|PMID:21996382|PMID:22118943|PMID:22238344|PMID:22243833|PMID:22445250|PMID:22451330|PMID:22644621|PMID:22764206|PMID:22956510|PMID:23063710|PMID:23303188|PMID:23334666|PMID:2345993|PMID:23459931|PMID:23880019|PMID:23986421|PMID:24033266|PMID:24167364|PMID:24374372|PMID:24660942|PMID:24677602|PMID:25466404|PMID:25558820|PMID:25627829|PMID:25741868|PMID:26274610|PMID:26467025|PMID:27094865|PMID:27574110|PMID:27884173|PMID:28492532|PMID:28502045|PMID:28849312|PMID:29091718|PMID:29255601|PMID:29655942|PMID:30502028|PMID:31217084|PMID:32249012|PMID:32446772|PMID:32713623|PMID:32861104|PMID:32870915|PMID:33045815|PMID:33601107|PMID:33845304|PMID:34148545|PMID:34159639|PMID:35844286|PMID:36774704|PMID:9536098 8727505 Pink1 PTEN induced kinase 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1314001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset 8727505 Pink1 PTEN induced kinase 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1314001 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8727505 Pink1 PTEN induced kinase 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1314001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:25741868|PMID:28492532 8727505 Pink1 PTEN induced kinase 1 gene DOID:0080855 Parkinsonism ISO RGD:1305769 D RGD:9068941 20200609 RGD PMID:24969022|REF_RGD_ID:13210569 8727505 Pink1 PTEN induced kinase 1 gene DOID:0080855 Parkinsonism ISO RGD:1314001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11254447|PMID:15349871|PMID:23046578|PMID:24441527|PMID:24792327|PMID:26558463 8727505 Pink1 PTEN induced kinase 1 gene DOID:1024 leprosy ISO RGD:1314001 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 8727505 Pink1 PTEN induced kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:1314001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive PMID:25741868|PMID:28492532 8727505 Pink1 PTEN induced kinase 1 gene DOID:1561 cognitive disorder ISO RGD:1314001 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36804394 8727505 Pink1 PTEN induced kinase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1314001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 8727505 Pink1 PTEN induced kinase 1 gene DOID:630 genetic disease ISO RGD:1314001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8727505 Pink1 PTEN induced kinase 1 gene DOID:769 neuroblastoma ISO RGD:1314001 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 8727505 Pink1 PTEN induced kinase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1314001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24161480 8727505 Pink1 PTEN induced kinase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1314001 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35312153 8727505 Pink1 PTEN induced kinase 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1314001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8727518 Tlcd5 TLC domain containing 5 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8727518 Tlcd5 TLC domain containing 5 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8727518 Tlcd5 TLC domain containing 5 gene DOID:0080690 RASopathy ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8727518 Tlcd5 TLC domain containing 5 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8727518 Tlcd5 TLC domain containing 5 gene DOID:0111971 immunodeficiency 18 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8727518 Tlcd5 TLC domain containing 5 gene DOID:0111972 immunodeficiency 19 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8727518 Tlcd5 TLC domain containing 5 gene DOID:0111973 immunodeficiency 17 ISO RGD:1603164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8727518 Tlcd5 TLC domain containing 5 gene DOID:13641 exfoliation syndrome ISO RGD:1603164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 8727518 Tlcd5 TLC domain containing 5 gene DOID:5419 schizophrenia ISO RGD:1603164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8727518 Tlcd5 TLC domain containing 5 gene DOID:630 genetic disease ISO RGD:1603164 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727518 Tlcd5 TLC domain containing 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8727518 Tlcd5 TLC domain containing 5 gene DOID:9007661 Dwarfism ISO RGD:1603164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8727530 Laptm4a lysosomal protein transmembrane 4 alpha gene DOID:630 genetic disease ISO RGD:1346215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727541 Vsig2 V-set and immunoglobulin domain containing 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8727541 Vsig2 V-set and immunoglobulin domain containing 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8727541 Vsig2 V-set and immunoglobulin domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8727541 Vsig2 V-set and immunoglobulin domain containing 2 gene DOID:630 genetic disease ISO RGD:1344618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727541 Vsig2 V-set and immunoglobulin domain containing 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8727541 Vsig2 V-set and immunoglobulin domain containing 2 gene DOID:9007661 Dwarfism ISO RGD:1344618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319911 D RGD:9068941 20221117 RGD DNA:deletions:multiple: (human) PMID:28464518|REF_RGD_ID:155663379 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319911 D RGD:9068941 20221117 RGD DNA:nonsense mutation:exon:c.1039 C>T, p.R347X (human) PMID:29700987|REF_RGD_ID:155663377 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:0080846 latent autoimmune diabetes in adults ISO RGD:1319911 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 PMID:15123604|PMID:15247916|PMID:15678134|PMID:15678135|PMID:15678137 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:0110744 type 1 diabetes mellitus 5 ISO RGD:1319911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 5 PMID:15123604|PMID:15247916|PMID:15678134|PMID:15678135|PMID:15678137 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319911 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28386937|PMID:28492532|PMID:31250519|PMID:34906501 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:1682 congenital heart disease ISO RGD:1319911 D RGD:9068941 20221111 RGD DNA:mutations:cds:multiple (human) PMID:36229919|REF_RGD_ID:155663359 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:2152 ovary epithelial cancer susceptibility ISO RGD:1319911 D RGD:9068941 20221117 RGD DNA:SNP:CDS:rs237028 (human) PMID:31485280|REF_RGD_ID:155663376 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1319912 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1319912 D RGD:9068941 20221117 RGD PMID:32506869|REF_RGD_ID:155663374 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319911 D RGD:9068941 20221117 RGD mRNA:increased expression:lung (human) PMID:34551195|REF_RGD_ID:155663369 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:630 genetic disease ISO RGD:1319911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:28492532 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:6364 migraine ISO RGD:1319911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28386937|PMID:28492532|PMID:29700987|PMID:31250519 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319911 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9004994 Embryo Loss ISO RGD:1319912 D RGD:9068941 20221117 RGD PMID:22972987|REF_RGD_ID:155663421 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9007753 Congenital Heart Defects, Multiple Types, 2 ISO RGD:1319911 D RGD:7240710 20180130 OMIM 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9007753 Congenital Heart Defects, Multiple Types, 2 ISO RGD:1319911 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 2 | ClinVar Annotator: match by term: TAB2-related condition PMID:20493459|PMID:25326635|PMID:25741868|PMID:27452334|PMID:28386937|PMID:28492532|PMID:31250519|PMID:31959127|PMID:32860008|PMID:34906501 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9008565 Congenital Heart Defects, Multiple Types ISO RGD:1319911 D RGD:9068941 20221117 RGD DNA:mutation, translocation:cds:c.622C>T p.Pro208Ser|c.688C>A p.Gln230Lys, t(2;6)(q21;q25) PMID:20493459|REF_RGD_ID:155663487 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1319911 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 8727567 Tab2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 gene DOID:936 brain disease ISO RGD:1319911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25326635|PMID:25741868 8727583 Pygl glycogen phosphorylase L gene DOID:2747 glycogen storage disease ISO RGD:731803 D RGD:9068941 20200609 RGD PMID:9536091|REF_RGD_ID:1599374 8727583 Pygl glycogen phosphorylase L gene DOID:2754 glycogen storage disease VI ISO RGD:731803 D RGD:7240710 20180130 OMIM 8727583 Pygl glycogen phosphorylase L gene DOID:2754 glycogen storage disease VI ISO RGD:731803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VI PMID:12809646|PMID:16199547|PMID:17576681|PMID:17705025|PMID:20301760|PMID:21646031|PMID:22899091|PMID:24033266|PMID:24082139|PMID:25070466|PMID:25266922|PMID:25640679|PMID:25741868|PMID:26526422|PMID:28468868|PMID:28492532|PMID:31508908|PMID:31768638|PMID:32268899|PMID:32505569|PMID:32772503|PMID:32892177|PMID:32961316|PMID:33726816|PMID:33763395|PMID:33782433|PMID:34026552|PMID:35143115|PMID:9529348|PMID:9536091|PMID:9536098 8727583 Pygl glycogen phosphorylase L gene DOID:3650 lactic acidosis ISO RGD:620687 D RGD:9068941 20200609 RGD DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 8727583 Pygl glycogen phosphorylase L gene DOID:3650 lactic acidosis ISO RGD:731803 D RGD:9068941 20200609 RGD DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 8727583 Pygl glycogen phosphorylase L gene DOID:3650 lactic acidosis ISO RGD:731804 D RGD:9068941 20200609 RGD DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 8727583 Pygl glycogen phosphorylase L gene DOID:630 genetic disease ISO RGD:731803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8727583 Pygl glycogen phosphorylase L gene DOID:684 hepatocellular carcinoma ISO RGD:731803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2885971 8727583 Pygl glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:620687 D RGD:9068941 20200609 RGD DNA:SNPs,insertions,deletions:exons,introns:multiple PMID:21646031|REF_RGD_ID:21079734 8727583 Pygl glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:620687 D RGD:9068941 20200609 RGD associated with glycogen storage disease VI;DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 8727583 Pygl glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:731803 D RGD:9068941 20200609 RGD DNA:SNPs,insertions,deletions:exons,introns:multiple PMID:21646031|REF_RGD_ID:21079734 8727583 Pygl glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:731803 D RGD:9068941 20200609 RGD associated with glycogen storage disease VI;DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 8727583 Pygl glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:731804 D RGD:9068941 20200609 RGD DNA:SNPs,insertions,deletions:exons,introns:multiple PMID:21646031|REF_RGD_ID:21079734 8727583 Pygl glycogen phosphorylase L gene DOID:9005369 Hepatomegaly ISO RGD:731804 D RGD:9068941 20200609 RGD associated with glycogen storage disease VI;DNA:mutation:multiple PMID:17705025|REF_RGD_ID:11071447 8727583 Pygl glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:620687 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25336395|REF_RGD_ID:21079733 8727583 Pygl glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8727583 Pygl glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731803 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25336395|REF_RGD_ID:21079733 8727583 Pygl glycogen phosphorylase L gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731804 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25336395|REF_RGD_ID:21079733 8727612 Pcdhb1 protocadherin beta 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8727612 Pcdhb1 protocadherin beta 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8727612 Pcdhb1 protocadherin beta 1 gene DOID:10283 prostate cancer ISO RGD:1318719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8727612 Pcdhb1 protocadherin beta 1 gene DOID:630 genetic disease ISO RGD:1318719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727612 Pcdhb1 protocadherin beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8727612 Pcdhb1 protocadherin beta 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8727647 Ogdh oxoglutarate dehydrogenase gene DOID:0081326 oxoglutarate dehydrogenase deficiency ISO RGD:1353072 D RGD:7240710 20180130 OMIM 8727647 Ogdh oxoglutarate dehydrogenase gene DOID:0081326 oxoglutarate dehydrogenase deficiency ISO RGD:1353072 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency | ClinVar Annotator: match by term: Alpha-ketoglutarate dehydrogenase deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:32383294|PMID:36520152|PMID:9536098 8727647 Ogdh oxoglutarate dehydrogenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8727647 Ogdh oxoglutarate dehydrogenase gene DOID:630 genetic disease ISO RGD:1353072 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8727647 Ogdh oxoglutarate dehydrogenase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8727690 Gask1a golgi associated kinase 1A gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1606802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8727690 Gask1a golgi associated kinase 1A gene DOID:630 genetic disease ISO RGD:1606802 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727717 Aldh1l1 aldehyde dehydrogenase 1 family member L1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606025 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8727717 Aldh1l1 aldehyde dehydrogenase 1 family member L1 gene DOID:13580 cholestasis treatment ISO RGD:621294 D RGD:9068941 20200609 RGD PMID:30223280|REF_RGD_ID:15045612 8727717 Aldh1l1 aldehyde dehydrogenase 1 family member L1 gene DOID:630 genetic disease ISO RGD:1606025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727717 Aldh1l1 aldehyde dehydrogenase 1 family member L1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 8727717 Aldh1l1 aldehyde dehydrogenase 1 family member L1 gene DOID:9002189 High Myopia ISO RGD:1606025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8727717 Aldh1l1 aldehyde dehydrogenase 1 family member L1 gene DOID:9002669 Hypoxia ISO RGD:1606025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 8727717 Aldh1l1 aldehyde dehydrogenase 1 family member L1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8727717 Aldh1l1 aldehyde dehydrogenase 1 family member L1 gene DOID:9270 alkaptonuria ISO RGD:1606025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8727717 Aldh1l1 aldehyde dehydrogenase 1 family member L1 gene DOID:9970 obesity ISO RGD:1606025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8727745 Orc1 origin recognition complex subunit 1 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1350406 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:11477602|PMID:14564153|PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28492532|PMID:819054 8727745 Orc1 origin recognition complex subunit 1 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1350406 D RGD:7240710 20190424 OMIM 8727745 Orc1 origin recognition complex subunit 1 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1350406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 | ClinVar Annotator: match by term: ORC1-related condition PMID:11477602|PMID:14564153|PMID:18414213|PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22689986|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28112645|PMID:28492532|PMID:31274184|PMID:33482836|PMID:819054 8727745 Orc1 origin recognition complex subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1350406 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8727745 Orc1 origin recognition complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1350406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358633 8727745 Orc1 origin recognition complex subunit 1 gene DOID:630 genetic disease ISO RGD:1350406 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8727745 Orc1 origin recognition complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8727745 Orc1 origin recognition complex subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1350406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358633 8727745 Orc1 origin recognition complex subunit 1 gene DOID:9007661 Dwarfism ISO RGD:1350406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358633 8727781 Naa20 N-alpha-acetyltransferase 20, NatB catalytic subunit gene DOID:0081233 autosomal recessive intellectual developmental disorder 73 ISO RGD:1317063 D RGD:7240710 20220323 OMIM 8727781 Naa20 N-alpha-acetyltransferase 20, NatB catalytic subunit gene DOID:0081233 autosomal recessive intellectual developmental disorder 73 ISO RGD:1317063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 73 8727781 Naa20 N-alpha-acetyltransferase 20, NatB catalytic subunit gene DOID:630 genetic disease ISO RGD:1317063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727798 Taf6l TATA-box binding protein associated factor 6 like gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8727798 Taf6l TATA-box binding protein associated factor 6 like gene DOID:1059 intellectual disability ISO RGD:1320845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8727798 Taf6l TATA-box binding protein associated factor 6 like gene DOID:630 genetic disease ISO RGD:1320845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727811 Efs embryonal Fyn-associated substrate gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8727811 Efs embryonal Fyn-associated substrate gene DOID:630 genetic disease ISO RGD:1319047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727811 Efs embryonal Fyn-associated substrate gene DOID:8778 Crohn's disease ISO RGD:1319048 D RGD:9068941 20220825 MouseDO 8727811 Efs embryonal Fyn-associated substrate gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 8727811 Efs embryonal Fyn-associated substrate gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319047 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8727842 Noct nocturnin gene DOID:630 genetic disease ISO RGD:1349348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727842 Noct nocturnin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8727854 Cdh17 cadherin 17 gene DOID:0080820 occupational asthma ISO RGD:733806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 8727854 Cdh17 cadherin 17 gene DOID:11372 megacolon ISO RGD:733806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8727854 Cdh17 cadherin 17 gene DOID:630 genetic disease ISO RGD:733806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727882 Zbtb8b zinc finger and BTB domain containing 8B gene DOID:630 genetic disease ISO RGD:2307066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727921 Dhrs3 dehydrogenase/reductase 3 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1313699 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8727921 Dhrs3 dehydrogenase/reductase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1313699 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8727921 Dhrs3 dehydrogenase/reductase 3 gene DOID:630 genetic disease ISO RGD:1313699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727921 Dhrs3 dehydrogenase/reductase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8727921 Dhrs3 dehydrogenase/reductase 3 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1313699 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 8727936 Prmt8 protein arginine methyltransferase 8 gene DOID:630 genetic disease ISO RGD:1605979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727936 Prmt8 protein arginine methyltransferase 8 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8727950 Lrrn2 leucine rich repeat neuronal 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8727950 Lrrn2 leucine rich repeat neuronal 2 gene DOID:12849 autistic disorder ISO RGD:1313534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8727950 Lrrn2 leucine rich repeat neuronal 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8727950 Lrrn2 leucine rich repeat neuronal 2 gene DOID:630 genetic disease ISO RGD:1313534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727950 Lrrn2 leucine rich repeat neuronal 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313534 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8727950 Lrrn2 leucine rich repeat neuronal 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8727959 Rps27 ribosomal protein S27 gene DOID:0070048 GAND syndrome ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 8727959 Rps27 ribosomal protein S27 gene DOID:0111880 Diamond-Blackfan anemia 17 ISO RGD:732460 D RGD:7240710 20190315 OMIM 8727959 Rps27 ribosomal protein S27 gene DOID:0111880 Diamond-Blackfan anemia 17 ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 PMID:25424902|PMID:25741868 8727959 Rps27 ribosomal protein S27 gene DOID:0111940 immunodeficiency 42 ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8727959 Rps27 ribosomal protein S27 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8727959 Rps27 ribosomal protein S27 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8727959 Rps27 ribosomal protein S27 gene DOID:1540 parathyroid carcinoma ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8727959 Rps27 ribosomal protein S27 gene DOID:5812 MHC class II deficiency ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8727959 Rps27 ribosomal protein S27 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8727981 Tspan14 tetraspanin 14 gene DOID:10652 Alzheimer's disease ISO RGD:1342494 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 8727981 Tspan14 tetraspanin 14 gene DOID:630 genetic disease ISO RGD:1342494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8727994 Lrrc75a leucine rich repeat containing 75A gene DOID:630 genetic disease ISO RGD:1604449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728002 Rnf223 ring finger protein 223 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8728002 Rnf223 ring finger protein 223 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:5132242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8728002 Rnf223 ring finger protein 223 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8728002 Rnf223 ring finger protein 223 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8728002 Rnf223 ring finger protein 223 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8728002 Rnf223 ring finger protein 223 gene DOID:0110994 Joubert syndrome 25 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8728002 Rnf223 ring finger protein 223 gene DOID:0111934 immunodeficiency 38 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8728002 Rnf223 ring finger protein 223 gene DOID:0111935 immunodeficiency 16 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8728002 Rnf223 ring finger protein 223 gene DOID:630 genetic disease ISO RGD:5132242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728002 Rnf223 ring finger protein 223 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8728002 Rnf223 ring finger protein 223 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:5132242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8728002 Rnf223 ring finger protein 223 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:5132242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8728018 Fgf6 fibroblast growth factor 6 gene DOID:0050989 episodic ataxia type 1 ISO RGD:732549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8728018 Fgf6 fibroblast growth factor 6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:732549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8728018 Fgf6 fibroblast growth factor 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8728018 Fgf6 fibroblast growth factor 6 gene DOID:630 genetic disease ISO RGD:732549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728018 Fgf6 fibroblast growth factor 6 gene DOID:8634 prostate carcinoma in situ ISO RGD:732549 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:2289066|REF_RGD_ID:2301089 8728018 Fgf6 fibroblast growth factor 6 gene DOID:9000955 Acute Otitis Media ISO RGD:1557013 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 8728018 Fgf6 fibroblast growth factor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732549 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate PMID:10945637|REF_RGD_ID:2289066 8728018 Fgf6 fibroblast growth factor 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8728025 Sult6b1 sulfotransferase family 6B member 1 gene DOID:0080690 RASopathy ISO RGD:1626598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8728025 Sult6b1 sulfotransferase family 6B member 1 gene DOID:630 genetic disease ISO RGD:1626598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728037 Ephb6 EPH receptor B6 gene DOID:12365 malaria ISO RGD:1314624 D RGD:9068941 20210618 RGD PMID:25784101|REF_RGD_ID:127285023 8728037 Ephb6 EPH receptor B6 gene DOID:2661 myoepithelioma ISO RGD:1314623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8728037 Ephb6 EPH receptor B6 gene DOID:630 genetic disease ISO RGD:1314623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728075 Rhbdd3 rhomboid domain containing 3 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1323487 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8728075 Rhbdd3 rhomboid domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1323487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8728075 Rhbdd3 rhomboid domain containing 3 gene DOID:630 genetic disease ISO RGD:1323487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728075 Rhbdd3 rhomboid domain containing 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8728094 Hspb7 heat shock protein family B (small) member 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736091 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8728094 Hspb7 heat shock protein family B (small) member 7 gene DOID:13501 Moebius syndrome ISO RGD:736091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 8728094 Hspb7 heat shock protein family B (small) member 7 gene DOID:630 genetic disease ISO RGD:736091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728101 Apcs amyloid P component, serum gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:68444 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8728101 Apcs amyloid P component, serum gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:68444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8728101 Apcs amyloid P component, serum gene DOID:1540 parathyroid carcinoma ISO RGD:68444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8728101 Apcs amyloid P component, serum gene DOID:3393 coronary artery disease ISO RGD:68444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12714198 8728101 Apcs amyloid P component, serum gene DOID:6000 congestive heart failure ISO RGD:68444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16129801 8728101 Apcs amyloid P component, serum gene DOID:630 genetic disease ISO RGD:68444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728101 Apcs amyloid P component, serum gene DOID:684 hepatocellular carcinoma ISO RGD:68444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 8728101 Apcs amyloid P component, serum gene DOID:9007188 Liver Neoplasms ISO RGD:68444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 8728101 Apcs amyloid P component, serum gene DOID:9120 amyloidosis ISO RGD:68444 D RGD:9068941 20200609 RGD PMID:12015594|REF_RGD_ID:1300286 8728101 Apcs amyloid P component, serum gene DOID:9120 amyloidosis ISO RGD:736001 D RGD:9068941 20200609 RGD PMID:12015594|REF_RGD_ID:1300286 8728101 Apcs amyloid P component, serum gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8728107 Tp53tg5 TP53 target 5 gene DOID:2234 focal epilepsy ISO RGD:1350426 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8728107 Tp53tg5 TP53 target 5 gene DOID:630 genetic disease ISO RGD:1350426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728107 Tp53tg5 TP53 target 5 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350426 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8728131 Aqp4 aquaporin 4 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1553166 D RGD:9068941 20200609 RGD PMID:20680099|REF_RGD_ID:5148028 8728131 Aqp4 aquaporin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:735519 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8728131 Aqp4 aquaporin 4 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:20680636|REF_RGD_ID:5148026 8728131 Aqp4 aquaporin 4 gene DOID:0080743 transverse myelitis ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:21771203|PMID:23999580|REF_RGD_ID:5148008|REF_RGD_ID:8696028 8728131 Aqp4 aquaporin 4 gene DOID:0080855 Parkinsonism severity ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:21255222|REF_RGD_ID:5148006 8728131 Aqp4 aquaporin 4 gene DOID:1059 intellectual disability ISO RGD:735519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8728131 Aqp4 aquaporin 4 gene DOID:10652 Alzheimer's disease ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:21107133|REF_RGD_ID:5148012 8728131 Aqp4 aquaporin 4 gene DOID:10763 hypertension ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20156423|REF_RGD_ID:5148031 8728131 Aqp4 aquaporin 4 gene DOID:10908 hydrocephalus disease_progression ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:21135737|REF_RGD_ID:5148011 8728131 Aqp4 aquaporin 4 gene DOID:1210 optic neuritis ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:22157536|REF_RGD_ID:9685553 8728131 Aqp4 aquaporin 4 gene DOID:1210 optic neuritis disease_progression ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:23024849|REF_RGD_ID:8696036 8728131 Aqp4 aquaporin 4 gene DOID:12236 primary biliary cholangitis ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20451280|REF_RGD_ID:5148030 8728131 Aqp4 aquaporin 4 gene DOID:12365 malaria ISO RGD:10183 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 8728131 Aqp4 aquaporin 4 gene DOID:12849 autistic disorder ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18435417 8728131 Aqp4 aquaporin 4 gene DOID:13141 uveitis ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20383338|REF_RGD_ID:5148029 8728131 Aqp4 aquaporin 4 gene DOID:13141 uveitis ISO RGD:2143 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:21724913|REF_RGD_ID:5490118 8728131 Aqp4 aquaporin 4 gene DOID:14069 cerebral malaria disease_progression ISO RGD:10183 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte: PMID:21904632|REF_RGD_ID:8698661 8728131 Aqp4 aquaporin 4 gene DOID:1432 blindness ISO RGD:735519 D RGD:9068941 20200609 RGD associated with Multiple Sclerosis, Relapsing-Remitting; PMID:17702782|REF_RGD_ID:8696024 8728131 Aqp4 aquaporin 4 gene DOID:1727 retinal vein occlusion ISO RGD:2143 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:21487926|REF_RGD_ID:5490120 8728131 Aqp4 aquaporin 4 gene DOID:1824 status epilepticus ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:22361023|REF_RGD_ID:8695999 8728131 Aqp4 aquaporin 4 gene DOID:1824 status epilepticus ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20886625|REF_RGD_ID:5148023 8728131 Aqp4 aquaporin 4 gene DOID:1824 status epilepticus ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886625 8728131 Aqp4 aquaporin 4 gene DOID:1824 status epilepticus severity ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:22361023|REF_RGD_ID:8695999 8728131 Aqp4 aquaporin 4 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:24773551|REF_RGD_ID:13207320 8728131 Aqp4 aquaporin 4 gene DOID:2316 brain ischemia ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:19616516|REF_RGD_ID:5490152 8728131 Aqp4 aquaporin 4 gene DOID:3275 thymoma ISO RGD:735519 D RGD:9068941 20200609 RGD associated with Myasthenia Gravis PMID:20728226|REF_RGD_ID:5148025 8728131 Aqp4 aquaporin 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2143 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:19089902|REF_RGD_ID:5490153 8728131 Aqp4 aquaporin 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2143 D RGD:9068941 20200609 RGD protein:increased expression:brainstem PMID:22987392|REF_RGD_ID:8662893 8728131 Aqp4 aquaporin 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:735519 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:19864112|REF_RGD_ID:5148036 8728131 Aqp4 aquaporin 4 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2143 D RGD:9068941 20221110 RGD PMID:20815926|PMID:33127515|REF_RGD_ID:155646130|REF_RGD_ID:8695955 8728131 Aqp4 aquaporin 4 gene DOID:3910 lung adenocarcinoma ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8728131 Aqp4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:21187412|REF_RGD_ID:5148010 8728131 Aqp4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:10183 D RGD:9068941 20200609 RGD associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex PMID:20938728|REF_RGD_ID:5148020 8728131 Aqp4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Anoxia PMID:21560328|REF_RGD_ID:5148033 8728131 Aqp4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:20541575|REF_RGD_ID:5490126 8728131 Aqp4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex, astrocyte, plasma membrane PMID:20720509|REF_RGD_ID:5490122 8728131 Aqp4 aquaporin 4 gene DOID:4724 brain edema ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Embolism, Fat;protein:increased expression:brain PMID:20111877|REF_RGD_ID:5490129 8728131 Aqp4 aquaporin 4 gene DOID:5679 retinal disease ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:18836575|REF_RGD_ID:5490154 8728131 Aqp4 aquaporin 4 gene DOID:630 genetic disease ISO RGD:735519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8728131 Aqp4 aquaporin 4 gene DOID:636 central pontine myelinolysis ISO RGD:735519 D RGD:9068941 20200609 RGD protein:altered expression:basal part of pons: PMID:24252214|REF_RGD_ID:8696006 8728131 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:22271321|PMID:23995423|REF_RGD_ID:8695993|REF_RGD_ID:8696034 8728131 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509235|PMID:24070676 8728131 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:16087714|PMID:20047900|PMID:23890015|REF_RGD_ID:5148024|REF_RGD_ID:5148032|REF_RGD_ID:8696026 8728131 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica ISO RGD:735519 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1003A>G(human) PMID:23116879|REF_RGD_ID:8696032 8728131 Aqp4 aquaporin 4 gene DOID:8869 neuromyelitis optica disease_progression ISO RGD:735519 D RGD:9068941 20200609 RGD associated withHiccup; PMID:18420727|REF_RGD_ID:8696033 8728131 Aqp4 aquaporin 4 gene DOID:8947 diabetic retinopathy ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:22449442|REF_RGD_ID:8695996 8728131 Aqp4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:20517941|PMID:21280976|REF_RGD_ID:5148027|REF_RGD_ID:5148035 8728131 Aqp4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:21092735|REF_RGD_ID:5148013 8728131 Aqp4 aquaporin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 8728131 Aqp4 aquaporin 4 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:10183 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15695511|REF_RGD_ID:8698660 8728131 Aqp4 aquaporin 4 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:15695511|REF_RGD_ID:8698660 8728131 Aqp4 aquaporin 4 gene DOID:9000307 Presbycusis severity ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:19070604|REF_RGD_ID:8695953 8728131 Aqp4 aquaporin 4 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2143 D RGD:9068941 20220121 RGD mRNA:increased expression:brain: PMID:33574749|REF_RGD_ID:127284879 8728131 Aqp4 aquaporin 4 gene DOID:9000438 Subarachnoid Hemorrhage exacerbates ISO RGD:2143 D RGD:9068941 20220121 RGD PMID:33574749|REF_RGD_ID:127284879 8728131 Aqp4 aquaporin 4 gene DOID:9000998 Brain Injuries ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:21488209|REF_RGD_ID:5148034 8728131 Aqp4 aquaporin 4 gene DOID:9000998 Brain Injuries ISO RGD:2143 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:21083433|REF_RGD_ID:5148014 8728131 Aqp4 aquaporin 4 gene DOID:9002211 Hyperalgesia ISO RGD:2143 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries;mRNA,protein:increased expression:brain,spinal cord: PMID:16219025|REF_RGD_ID:8695957 8728131 Aqp4 aquaporin 4 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:25545558|REF_RGD_ID:11541062 8728131 Aqp4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:23707078|REF_RGD_ID:8696030 8728131 Aqp4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:21056916|REF_RGD_ID:5148015 8728131 Aqp4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:21157915|REF_RGD_ID:5490117 8728131 Aqp4 aquaporin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:19660138|REF_RGD_ID:5490116 8728131 Aqp4 aquaporin 4 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:17454447|REF_RGD_ID:8698664 8728131 Aqp4 aquaporin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:19806476|PMID:20924629|REF_RGD_ID:5148022|REF_RGD_ID:5148037 8728131 Aqp4 aquaporin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:2143 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:parietal cortex PMID:21718723|REF_RGD_ID:5684013 8728131 Aqp4 aquaporin 4 gene DOID:9004009 Reperfusion Injury ISO RGD:2143 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:20979759|REF_RGD_ID:5148016 8728131 Aqp4 aquaporin 4 gene DOID:9005247 Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 ISO RGD:735519 D RGD:7240710 20230726 OMIM 8728131 Aqp4 aquaporin 4 gene DOID:9005247 Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 ISO RGD:735519 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting PMID:25741868|PMID:37143309 8728131 Aqp4 aquaporin 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2143 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:22449442|REF_RGD_ID:8695996 8728131 Aqp4 aquaporin 4 gene DOID:9005754 Hypoalgesia ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:20851747|REF_RGD_ID:8696005 8728131 Aqp4 aquaporin 4 gene DOID:9006089 Opticospinal Multiple Sclerosis ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:17468440|REF_RGD_ID:8698645 8728131 Aqp4 aquaporin 4 gene DOID:9006205 Animal Disease Models ISO RGD:735519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8728131 Aqp4 aquaporin 4 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:20216911|REF_RGD_ID:2326035 8728131 Aqp4 aquaporin 4 gene DOID:9008681 Deafness ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:11406631|REF_RGD_ID:734598 8728131 Aqp4 aquaporin 4 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:735519 D RGD:9068941 20200609 RGD PMID:21107133|REF_RGD_ID:5148012 8728131 Aqp4 aquaporin 4 gene DOID:9282 ocular hypertension ISO RGD:10183 D RGD:9068941 20200609 RGD PMID:22943863|REF_RGD_ID:8698651 8728131 Aqp4 aquaporin 4 gene DOID:9351 diabetes mellitus ISO RGD:2143 D RGD:9068941 20200609 RGD PMID:19748503|REF_RGD_ID:2316076 8728131 Aqp4 aquaporin 4 gene DOID:9849 Meniere's disease ISO RGD:735519 D RGD:9068941 20200609 RGD protein:decreased expression:macula of utricle of membranous labyrinth: PMID:20461409|REF_RGD_ID:8696022 8728131 Aqp4 aquaporin 4 gene DOID:9849 Meniere's disease susceptibility ISO RGD:735519 D RGD:9068941 20200609 RGD DNA:conservative mutation:cds:c.105G>C(human) PMID:21063116|REF_RGD_ID:8696023 8728142 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:630 genetic disease ISO RGD:1351460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11448970|PMID:11509994|PMID:20301495|PMID:21484869|PMID:22326532|PMID:22593002|PMID:25255367|PMID:25381949|PMID:25741868|PMID:26257134|PMID:26453840|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28492532|PMID:29307017|PMID:31119508|PMID:31980395|PMID:33300147|PMID:34556729|PMID:35281663 8728142 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2197 D RGD:9068941 20200609 RGD Protein:increased expression:liver; PMID:9460082|REF_RGD_ID:1599467 8728142 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9007006 Maple Syrup Urine Disease, Type 1B ISO RGD:1351460 D RGD:7240710 20240214 OMIM 8728142 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9007006 Maple Syrup Urine Disease, Type 1B ISO RGD:1351460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB | ClinVar Annotator: match by term: Maple syrup urine disease type 1B PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26830710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:30228974|PMID:31112740|PMID:31980395|PMID:32812330|PMID:33131499|PMID:34556729|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 8728142 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:30298499|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32193832|PMID:32812330|PMID:33131499|PMID:33300147|PMID:34556729|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 8728142 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 8728142 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 8728142 Bckdhb branched chain keto acid dehydrogenase E1 subunit beta gene DOID:9269 maple syrup urine disease ISO RGD:1351460 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25748408|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:29753318|PMID:30228974|PMID:30298499|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:34883003|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098 8728162 Sec31a SEC31 homolog A, COPII coat complex component gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1350188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 8728162 Sec31a SEC31 homolog A, COPII coat complex component gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1350188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8728162 Sec31a SEC31 homolog A, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1350188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8728162 Sec31a SEC31 homolog A, COPII coat complex component gene DOID:9004325 Halperin-Birk Syndrome ISO RGD:1350188 D RGD:7240710 20200122 OMIM 8728162 Sec31a SEC31 homolog A, COPII coat complex component gene DOID:9004325 Halperin-Birk Syndrome ISO RGD:1350188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies PMID:25741868|PMID:30464055 8728209 Tnfaip1 TNF alpha induced protein 1 gene DOID:630 genetic disease ISO RGD:1346510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728209 Tnfaip1 TNF alpha induced protein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 8728254 Tmem203 transmembrane protein 203 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8728254 Tmem203 transmembrane protein 203 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1605598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8728254 Tmem203 transmembrane protein 203 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8728254 Tmem203 transmembrane protein 203 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1605598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8728254 Tmem203 transmembrane protein 203 gene DOID:0081097 Rafiq syndrome ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8728254 Tmem203 transmembrane protein 203 gene DOID:0110526 autosomal recessive nonsyndromic deafness 79 ISO RGD:1605598 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 79 PMID:25741868 8728254 Tmem203 transmembrane protein 203 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605598 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8728254 Tmem203 transmembrane protein 203 gene DOID:1826 epilepsy ISO RGD:1605598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8728254 Tmem203 transmembrane protein 203 gene DOID:630 genetic disease ISO RGD:1605598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728254 Tmem203 transmembrane protein 203 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1605598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8728260 Cfap45 cilia and flagella associated protein 45 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8728260 Cfap45 cilia and flagella associated protein 45 gene DOID:1540 parathyroid carcinoma ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8728260 Cfap45 cilia and flagella associated protein 45 gene DOID:1790 malignant mesothelioma ISO RGD:1604370 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 8728260 Cfap45 cilia and flagella associated protein 45 gene DOID:630 genetic disease ISO RGD:1604370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728260 Cfap45 cilia and flagella associated protein 45 gene DOID:9002158 Visceral Heterotaxy 11, Autosomal ISO RGD:1604370 D RGD:7240710 20211201 OMIM 8728260 Cfap45 cilia and flagella associated protein 45 gene DOID:9002158 Visceral Heterotaxy 11, Autosomal ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility PMID:33139725 8728260 Cfap45 cilia and flagella associated protein 45 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8728284 Igfn1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8728284 Igfn1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8728284 Igfn1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1606752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728284 Igfn1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8728284 Igfn1 immunoglobulin like and fibronectin type III domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8728324 Nfam1 NFAT activating protein with ITAM motif 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 8728324 Nfam1 NFAT activating protein with ITAM motif 1 gene DOID:1059 intellectual disability ISO RGD:1348005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8728324 Nfam1 NFAT activating protein with ITAM motif 1 gene DOID:630 genetic disease ISO RGD:1348005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728324 Nfam1 NFAT activating protein with ITAM motif 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1348005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8728347 Pgm3 phosphoglucomutase 3 gene DOID:0080545 hyper IgE syndrome ISO RGD:1603410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:24698316|PMID:3500672 8728347 Pgm3 phosphoglucomutase 3 gene DOID:0111953 immunodeficiency 23 ISO RGD:1603410 D RGD:7240710 20180130 OMIM 8728347 Pgm3 phosphoglucomutase 3 gene DOID:0111953 immunodeficiency 23 ISO RGD:1603410 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 PMID:1245758|PMID:14981714|PMID:16199547|PMID:17548465|PMID:17576681|PMID:24033266|PMID:24589341|PMID:24698316|PMID:24931394|PMID:25741868|PMID:26409661|PMID:26482871|PMID:28492532|PMID:28543917|PMID:29967067|PMID:32506361|PMID:33098103|PMID:3500672|PMID:35040011|PMID:9536098 8728347 Pgm3 phosphoglucomutase 3 gene DOID:3307 teratoma ISO RGD:1603410 D RGD:9068941 20200609 RGD PMID:5259759|REF_RGD_ID:2299871 8728347 Pgm3 phosphoglucomutase 3 gene DOID:4362 cervical cancer ISO RGD:1603410 D RGD:9068941 20200609 RGD PMID:508567|REF_RGD_ID:2299870 8728347 Pgm3 phosphoglucomutase 3 gene DOID:627 severe combined immunodeficiency ISO RGD:1603410 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:17548465|PMID:24033266|PMID:24589341|PMID:24931394|PMID:25741868|PMID:28492532|PMID:35040011 8728347 Pgm3 phosphoglucomutase 3 gene DOID:630 genetic disease ISO RGD:1603410 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24931394|PMID:25741868|PMID:26409661|PMID:28492532|PMID:29967067 8728363 Pyroxd2 pyridine nucleotide-disulphide oxidoreductase domain 2 gene DOID:3652 Leigh disease ISO RGD:1353326 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 8728363 Pyroxd2 pyridine nucleotide-disulphide oxidoreductase domain 2 gene DOID:630 genetic disease ISO RGD:1353326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728391 Fam83c family with sequence similarity 83 member C gene DOID:10283 prostate cancer ISO RGD:1344185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8728391 Fam83c family with sequence similarity 83 member C gene DOID:630 genetic disease ISO RGD:1344185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728454 Cytip cytohesin 1 interacting protein gene DOID:0060041 autism spectrum disorder ISO RGD:1317500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8728454 Cytip cytohesin 1 interacting protein gene DOID:630 genetic disease ISO RGD:1317500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728466 Lingo2 leucine rich repeat and Ig domain containing 2 gene DOID:11372 megacolon ISO RGD:1344562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8728466 Lingo2 leucine rich repeat and Ig domain containing 2 gene DOID:630 genetic disease ISO RGD:1344562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728466 Lingo2 leucine rich repeat and Ig domain containing 2 gene DOID:670 amphetamine abuse ISO RGD:1344562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8728466 Lingo2 leucine rich repeat and Ig domain containing 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1344562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8728506 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:0112370 Coffin-Siris syndrome 12 ISO RGD:1314970 D RGD:7240710 20210616 OMIM 8728506 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:0112370 Coffin-Siris syndrome 12 ISO RGD:1314970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 12 PMID:25741868|PMID:25741870|PMID:28492532|PMID:33232675 8728506 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:1059 intellectual disability ISO RGD:1314970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:33232675 8728506 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:630 genetic disease ISO RGD:1314970 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728506 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314970 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33232675 8728506 Bicra BRD4 interacting chromatin remodeling complex associated protein gene DOID:9008582 Developmental Disease ISO RGD:1314970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8728526 Txnl4b thioredoxin like 4B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8728526 Txnl4b thioredoxin like 4B gene DOID:630 genetic disease ISO RGD:1344635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728534 Rfc2 replication factor C subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8728534 Rfc2 replication factor C subunit 2 gene DOID:12849 autistic disorder ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8728534 Rfc2 replication factor C subunit 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1348076 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8728534 Rfc2 replication factor C subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8728534 Rfc2 replication factor C subunit 2 gene DOID:5419 schizophrenia ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8728534 Rfc2 replication factor C subunit 2 gene DOID:630 genetic disease ISO RGD:1348076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728534 Rfc2 replication factor C subunit 2 gene DOID:8445 intestinal volvulus ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8728534 Rfc2 replication factor C subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8728534 Rfc2 replication factor C subunit 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8728559 Fzd6 frizzled class receptor 6 gene DOID:0080079 nonsyndromic congenital nail disorder 1 ISO RGD:1343855 D RGD:7240710 20200408 OMIM 8728559 Fzd6 frizzled class receptor 6 gene DOID:0080079 nonsyndromic congenital nail disorder 1 ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 1 PMID:21665003|PMID:22211385|PMID:23374899|PMID:25741868|PMID:26036949 8728559 Fzd6 frizzled class receptor 6 gene DOID:0111590 Cohen syndrome ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8728559 Fzd6 frizzled class receptor 6 gene DOID:13938 amenorrhea ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8728559 Fzd6 frizzled class receptor 6 gene DOID:2154 nephroblastoma ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:26822237 8728559 Fzd6 frizzled class receptor 6 gene DOID:4123 nail disease ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nail disease PMID:21665003|PMID:22211385 8728559 Fzd6 frizzled class receptor 6 gene DOID:630 genetic disease ISO RGD:1343855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728559 Fzd6 frizzled class receptor 6 gene DOID:9008386 Hydrops Fetalis ISO RGD:1343855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:26036949 8728569 Tmem270 transmembrane protein 270 gene DOID:0060041 autism spectrum disorder ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8728569 Tmem270 transmembrane protein 270 gene DOID:12849 autistic disorder ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8728569 Tmem270 transmembrane protein 270 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1602434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8728569 Tmem270 transmembrane protein 270 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 8728569 Tmem270 transmembrane protein 270 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8728569 Tmem270 transmembrane protein 270 gene DOID:5419 schizophrenia ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8728569 Tmem270 transmembrane protein 270 gene DOID:630 genetic disease ISO RGD:1602434 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728569 Tmem270 transmembrane protein 270 gene DOID:8445 intestinal volvulus ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8728569 Tmem270 transmembrane protein 270 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8728569 Tmem270 transmembrane protein 270 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1602434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8728581 Prelid1 PRELI domain containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8728581 Prelid1 PRELI domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1604018 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8728581 Prelid1 PRELI domain containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8728581 Prelid1 PRELI domain containing 1 gene DOID:14748 Sotos syndrome ISO RGD:1604018 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8728581 Prelid1 PRELI domain containing 1 gene DOID:630 genetic disease ISO RGD:1604018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728581 Prelid1 PRELI domain containing 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8728581 Prelid1 PRELI domain containing 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1604018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8728599 LOC102023082 cytochrome c oxidase subunit 6B2 gene DOID:630 genetic disease ISO RGD:1349779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728610 Dio2 iodothyronine deiodinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 8728610 Dio2 iodothyronine deiodinase 2 gene DOID:10763 hypertension susceptibility ISO RGD:735779 D RGD:9068941 20200609 RGD protein:substitution:Thr92Ala PMID:17224473|REF_RGD_ID:1626437 8728610 Dio2 iodothyronine deiodinase 2 gene DOID:289 endometriosis ISO RGD:735779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8728610 Dio2 iodothyronine deiodinase 2 gene DOID:50 thyroid gland disease ISO RGD:735779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 8728610 Dio2 iodothyronine deiodinase 2 gene DOID:630 genetic disease ISO RGD:735779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728610 Dio2 iodothyronine deiodinase 2 gene DOID:9003566 Mesothelioma ISO RGD:735779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11425850 8728610 Dio2 iodothyronine deiodinase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:735779 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T92A (human) PMID:18198294|REF_RGD_ID:2313696 8728610 Dio2 iodothyronine deiodinase 2 gene DOID:9007692 Insulin Resistance ISO RGD:735779 D RGD:9068941 20200609 RGD DNA:SNP: :rs225014, p.T92A (human) PMID:11872697|REF_RGD_ID:2313698 8728610 Dio2 iodothyronine deiodinase 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735779 D RGD:9068941 20200609 RGD DNA:SNP: :rs225014, p.T92A (human) PMID:17077128|REF_RGD_ID:1626439 8728610 Dio2 iodothyronine deiodinase 2 gene DOID:9970 obesity no_association ISO RGD:735779 D RGD:9068941 20200609 RGD protein:substitution:Thr92Ala PMID:17077128|REF_RGD_ID:1626439 8728616 Il11 interleukin 11 gene DOID:1679 cystitis ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17980069 8728616 Il11 interleukin 11 gene DOID:3525 middle cerebral artery infarction ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 8728616 Il11 interleukin 11 gene DOID:409 liver disease ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16964402 8728616 Il11 interleukin 11 gene DOID:630 genetic disease ISO RGD:736550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728616 Il11 interleukin 11 gene DOID:9000197 Edema ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17980069 8728616 Il11 interleukin 11 gene DOID:9003281 Spontaneous Abortions ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8728616 Il11 interleukin 11 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069|PMID:30664745 8728616 Il11 interleukin 11 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11421492 8728616 Il11 interleukin 11 gene DOID:9008217 Hemorrhage ISO RGD:736550 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17980069 8728640 Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase gene DOID:0080563 congenital disorder of glycosylation Ik ISO RGD:1603258 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:14709599|PMID:14973782|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24157261|PMID:25741868|PMID:26931382|PMID:27325525|PMID:28492532|PMID:28554332|PMID:34567092|PMID:9536098 8728640 Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 8728640 Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1603258 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:20679665|PMID:24157261|PMID:26931382|PMID:28492532|PMID:34567092 8728640 Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1603258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20679665|PMID:24157261|PMID:26931382|PMID:28492532|PMID:34567092 8728660 Mastl microtubule associated serine/threonine kinase like gene DOID:1588 thrombocytopenia ISO RGD:1319386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 8728660 Mastl microtubule associated serine/threonine kinase like gene DOID:630 genetic disease ISO RGD:1319386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728660 Mastl microtubule associated serine/threonine kinase like gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1319386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:10891439|PMID:12890928|PMID:19460416|PMID:22102272|PMID:25741868|PMID:28492532 8728660 Mastl microtubule associated serine/threonine kinase like gene DOID:9005280 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities ISO RGD:1319386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities PMID:25741868 8728678 Ran RAN, member RAS oncogene family gene DOID:11446 sciatic neuropathy ISO RGD:620367 D RGD:9068941 20200609 RGD PMID:18667152|REF_RGD_ID:9835000 8728678 Ran RAN, member RAS oncogene family gene DOID:305 carcinoma ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8728678 Ran RAN, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8728678 Ran RAN, member RAS oncogene family gene DOID:8398 osteoarthritis ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8728678 Ran RAN, member RAS oncogene family gene DOID:9000058 Keloid ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8728678 Ran RAN, member RAS oncogene family gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8728678 Ran RAN, member RAS oncogene family gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8728678 Ran RAN, member RAS oncogene family gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348006 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22114719|REF_RGD_ID:9835390 8728685 Spred2 sprouty related EVH1 domain containing 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319580 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 8728685 Spred2 sprouty related EVH1 domain containing 2 gene DOID:3490 Noonan syndrome ISO RGD:1319580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:25741868|PMID:34626534 8728685 Spred2 sprouty related EVH1 domain containing 2 gene DOID:4480 achondroplasia ISO RGD:1319581 D RGD:9068941 20220825 MouseDO OMIM:100800 8728685 Spred2 sprouty related EVH1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1319580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728685 Spred2 sprouty related EVH1 domain containing 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 8728685 Spred2 sprouty related EVH1 domain containing 2 gene DOID:9001824 Noonan Syndrome 14 ISO RGD:1319580 D RGD:7240710 20220223 OMIM 8728685 Spred2 sprouty related EVH1 domain containing 2 gene DOID:9001824 Noonan Syndrome 14 ISO RGD:1319580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 14 PMID:25741868|PMID:34626534 8728704 Rbm8a RNA binding motif protein 8A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320809 D RGD:7240710 20180130 OMIM 8728704 Rbm8a RNA binding motif protein 8A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320809 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:16501574|PMID:17236129|PMID:17576681|PMID:20301781|PMID:22366785|PMID:22581968|PMID:23754559|PMID:24033266|PMID:24053387|PMID:24220582|PMID:25741868|PMID:26136524|PMID:26233629|PMID:27320760|PMID:27846804|PMID:28129423|PMID:28492532|PMID:28857120|PMID:32227665|PMID:32333414|PMID:32981126|PMID:33559987|PMID:33718801|PMID:34341987|PMID:34355501|PMID:36077017|PMID:9536098 8728704 Rbm8a RNA binding motif protein 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1320809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8728704 Rbm8a RNA binding motif protein 8A gene DOID:5419 schizophrenia ISO RGD:1320809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8728704 Rbm8a RNA binding motif protein 8A gene DOID:630 genetic disease ISO RGD:1320809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728704 Rbm8a RNA binding motif protein 8A gene DOID:9008086 Developmental Disabilities ISO RGD:1320809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22366785|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28857120 8728704 Rbm8a RNA binding motif protein 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8728718 Gjd2 gap junction protein delta 2 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:733205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 8728718 Gjd2 gap junction protein delta 2 gene DOID:11830 myopia ISO RGD:733205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 8728718 Gjd2 gap junction protein delta 2 gene DOID:2717 Bloom syndrome ISO RGD:733205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8728718 Gjd2 gap junction protein delta 2 gene DOID:630 genetic disease ISO RGD:733205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728718 Gjd2 gap junction protein delta 2 gene DOID:9004756 Brain Hypoxia ISO RGD:2694 D RGD:9068941 20200609 RGD PMID:20034754|REF_RGD_ID:7364784 8728718 Gjd2 gap junction protein delta 2 gene DOID:9256 colorectal cancer ISO RGD:733205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8728718 Gjd2 gap junction protein delta 2 gene DOID:9835 refractive error ISO RGD:733205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835239 8728744 Fnbp4 formin binding protein 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8728744 Fnbp4 formin binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1319467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8728744 Fnbp4 formin binding protein 4 gene DOID:630 genetic disease ISO RGD:1319467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728771 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities ISO RGD:1343743 D RGD:7240710 20200115 OMIM 8728771 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities ISO RGD:1343743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:31607425 8728771 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:1059 intellectual disability ISO RGD:1343743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8728771 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343743 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086 8728771 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:2543,RGD:621279 D RGD:9068941 20220908 RGD PMID:24902879|REF_RGD_ID:153350085 8728771 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:630 genetic disease ISO RGD:1343743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728771 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1343743 D RGD:9068941 20220901 RGD associated with lung adenocarcinoma; protein:increased expression:lung (human) PMID:21966491|REF_RGD_ID:153344600 8728771 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8728771 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1343743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8728771 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9006618 Liver Metastasis ISO RGD:1343743 D RGD:9068941 20220901 RGD human cells in mouse model PMID:22662237|REF_RGD_ID:153344589 8728771 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9008582 Developmental Disease ISO RGD:1343743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8728771 Iqsec1 IQ motif and Sec7 domain ArfGEF 1 gene DOID:9009121 lung metastasis ISO RGD:1343743 D RGD:9068941 20220901 RGD human cells in mouse model PMID:18084281|REF_RGD_ID:153344604 8728830 Rmdn2 regulator of microtubule dynamics 2 gene DOID:0080690 RASopathy ISO RGD:1605570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8728830 Rmdn2 regulator of microtubule dynamics 2 gene DOID:3883 Lynch syndrome ISO RGD:1605570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8728830 Rmdn2 regulator of microtubule dynamics 2 gene DOID:630 genetic disease ISO RGD:1605570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728830 Rmdn2 regulator of microtubule dynamics 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8728857 Slc44a2 solute carrier family 44 member 2 (CTL2 blood group) gene DOID:630 genetic disease ISO RGD:1601745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728857 Slc44a2 solute carrier family 44 member 2 (CTL2 blood group) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8728904 Adora1 adenosine A1 receptor gene DOID:0050848 obstructive sleep apnea ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:18787037|REF_RGD_ID:5129100 8728904 Adora1 adenosine A1 receptor gene DOID:0060001 withdrawal disorder ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16226742 8728904 Adora1 adenosine A1 receptor gene DOID:0060500 drug allergy ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 8728904 Adora1 adenosine A1 receptor gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:730817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8728904 Adora1 adenosine A1 receptor gene DOID:10763 hypertension ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:8998253|REF_RGD_ID:1625366 8728904 Adora1 adenosine A1 receptor gene DOID:10763 hypertension no_association ISO RGD:730817 D RGD:9068941 20200609 RGD PMID:15257174|REF_RGD_ID:1625367 8728904 Adora1 adenosine A1 receptor gene DOID:10763 hypertension treatment ISO RGD:2048 D RGD:9068941 20200609 RGD associated with diabetes mellitus, experimental PMID:9597368|REF_RGD_ID:1625365 8728904 Adora1 adenosine A1 receptor gene DOID:1540 parathyroid carcinoma ISO RGD:730817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8728904 Adora1 adenosine A1 receptor gene DOID:224 transient cerebral ischemia ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23437309 8728904 Adora1 adenosine A1 receptor gene DOID:2841 asthma ISO RGD:730817 D RGD:9068941 20200609 RGD DNA:SNPs: :1405C>T (human) PMID:19019667|REF_RGD_ID:4890386 8728904 Adora1 adenosine A1 receptor gene DOID:2841 asthma ISO RGD:730817 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:17959644|REF_RGD_ID:5129097 8728904 Adora1 adenosine A1 receptor gene DOID:2841 asthma ISO RGD:730818 D RGD:9068941 20200609 RGD PMID:20400685|REF_RGD_ID:4145444 8728904 Adora1 adenosine A1 receptor gene DOID:326 ischemia ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18950269 8728904 Adora1 adenosine A1 receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23437309 8728904 Adora1 adenosine A1 receptor gene DOID:3526 cerebral infarction ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:17067559|REF_RGD_ID:1625229 8728904 Adora1 adenosine A1 receptor gene DOID:552 pneumonia ISO RGD:730818 D RGD:9068941 20200609 RGD PMID:15630442|REF_RGD_ID:5129098 8728904 Adora1 adenosine A1 receptor gene DOID:5844 myocardial infarction ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12160945 8728904 Adora1 adenosine A1 receptor gene DOID:630 genetic disease ISO RGD:730817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728904 Adora1 adenosine A1 receptor gene DOID:850 lung disease ISO RGD:2048 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:18307414|REF_RGD_ID:5129095 8728904 Adora1 adenosine A1 receptor gene DOID:850 lung disease ISO RGD:730818 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20729330|REF_RGD_ID:5129093 8728904 Adora1 adenosine A1 receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:18289533|PMID:20065990|REF_RGD_ID:5129094|REF_RGD_ID:5129096 8728904 Adora1 adenosine A1 receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2048 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:17853654|REF_RGD_ID:4890369 8728904 Adora1 adenosine A1 receptor gene DOID:9000184 Ventricular Fibrillation ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:20334814|REF_RGD_ID:2317910 8728904 Adora1 adenosine A1 receptor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 8728904 Adora1 adenosine A1 receptor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18950269 8728904 Adora1 adenosine A1 receptor gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092996 8728904 Adora1 adenosine A1 receptor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:2048 D RGD:9068941 20200609 RGD associated with Hypertrophy, Left Ventricular;protein:increased expression:left heart ventricle PMID:17211253|REF_RGD_ID:1625225 8728904 Adora1 adenosine A1 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2048 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19552053|REF_RGD_ID:2313803 8728904 Adora1 adenosine A1 receptor gene DOID:9002211 Hyperalgesia ISO RGD:2048 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:20065990|REF_RGD_ID:5129094 8728904 Adora1 adenosine A1 receptor gene DOID:9002955 Nerve Degeneration ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23437309 8728904 Adora1 adenosine A1 receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2048 D RGD:9068941 20220616 RGD protein:decreased expression:brain: PMID:25720338|REF_RGD_ID:152995398 8728904 Adora1 adenosine A1 receptor gene DOID:9003805 Catalepsy ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9407998 8728904 Adora1 adenosine A1 receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:730817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8728904 Adora1 adenosine A1 receptor gene DOID:9004760 Paroxysmal Dyspnea ISO RGD:730817 D RGD:9068941 20200609 RGD PMID:21388992|REF_RGD_ID:5129099 8728904 Adora1 adenosine A1 receptor gene DOID:9005372 Inflammation ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:2167912|REF_RGD_ID:5129103 8728904 Adora1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:11593763|REF_RGD_ID:2313808 8728904 Adora1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2048 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:16256246|REF_RGD_ID:2313805 8728904 Adora1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730818 D RGD:9068941 20200609 RGD PMID:19276628|REF_RGD_ID:2313804 8728904 Adora1 adenosine A1 receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2048 D RGD:9068941 20200609 RGD associated with hypertension PMID:9597368|REF_RGD_ID:1625365 8728904 Adora1 adenosine A1 receptor gene DOID:9006024 Hypotension ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640|PMID:18313046 8728904 Adora1 adenosine A1 receptor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 8728904 Adora1 adenosine A1 receptor gene DOID:9007001 Bradycardia ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18313046 8728904 Adora1 adenosine A1 receptor gene DOID:9007039 Ventricular Dysfunction ISO RGD:730817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 8728904 Adora1 adenosine A1 receptor gene DOID:9007692 Insulin Resistance ISO RGD:730817 D RGD:9068941 20200609 RGD associated with Obesity PMID:11703426|REF_RGD_ID:2313807 8728904 Adora1 adenosine A1 receptor gene DOID:9007692 Insulin Resistance treatment ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:15220221|REF_RGD_ID:1625243 8728904 Adora1 adenosine A1 receptor gene DOID:9009131 Ventriculomegaly ISO RGD:2048 D RGD:9068941 20200609 RGD PMID:12151769|REF_RGD_ID:1625283 8728904 Adora1 adenosine A1 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8728904 Adora1 adenosine A1 receptor gene DOID:9970 obesity ISO RGD:730817 D RGD:9068941 20200609 RGD protein:increased expression:visceral adipose tissue:increased density of ligand binding sites on VAT in African American women compared to Caucasian women PMID:16507638|REF_RGD_ID:1625369 8728941 Kiaa1671 KIAA1671 ortholog gene DOID:630 genetic disease ISO RGD:2311473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728973 Myom2 myomesin 2 gene DOID:630 genetic disease ISO RGD:1343651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8728973 Myom2 myomesin 2 gene DOID:9006836 Contracture ISO RGD:1343651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8729020 Serpinf1 serpin family F member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8729020 Serpinf1 serpin family F member 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:26121037|REF_RGD_ID:27226705 8729020 Serpinf1 serpin family F member 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:28365916|REF_RGD_ID:27226700 8729020 Serpinf1 serpin family F member 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1342519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868|PMID:28492532|PMID:32770541 8729020 Serpinf1 serpin family F member 1 gene DOID:0110350 osteogenesis imperfecta type 6 ISO RGD:1342519 D RGD:7240710 20180130 OMIM 8729020 Serpinf1 serpin family F member 1 gene DOID:0110350 osteogenesis imperfecta type 6 ISO RGD:1342519 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 6 PMID:17576681|PMID:21353196|PMID:21826736|PMID:23054245|PMID:25565926|PMID:25741868|PMID:27056980|PMID:27796462|PMID:28116328|PMID:28492532|PMID:29150909|PMID:29620724|PMID:30968248|PMID:35261846|PMID:9536098 8729020 Serpinf1 serpin family F member 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1342519 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 8729020 Serpinf1 serpin family F member 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:18837062|REF_RGD_ID:8554900 8729020 Serpinf1 serpin family F member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, serum (human) PMID:28320113|REF_RGD_ID:27226702 8729020 Serpinf1 serpin family F member 1 gene DOID:10652 Alzheimer's disease ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:17073149|REF_RGD_ID:2312353 8729020 Serpinf1 serpin family F member 1 gene DOID:1074 kidney failure ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:increased expression:plasma (human) PMID:16828495|REF_RGD_ID:36174008 8729020 Serpinf1 serpin family F member 1 gene DOID:10762 portal hypertension ISO RGD:631369 D RGD:9068941 20200609 RGD protein:increased expression:gastric wall (rat) PMID:22024088|REF_RGD_ID:8655539 8729020 Serpinf1 serpin family F member 1 gene DOID:11168 anogenital venereal wart disease_progression ISO RGD:1342519 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:skin of body (human) PMID:23569025|REF_RGD_ID:27226706 8729020 Serpinf1 serpin family F member 1 gene DOID:11382 corneal neovascularization treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:19596319|REF_RGD_ID:8554890 8729020 Serpinf1 serpin family F member 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:10441236|REF_RGD_ID:8554886 8729020 Serpinf1 serpin family F member 1 gene DOID:11476 osteoporosis ISO RGD:1342519 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868|PMID:28492532|PMID:29150909|PMID:30968248 8729020 Serpinf1 serpin family F member 1 gene DOID:11713 diabetic angiopathy ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 8729020 Serpinf1 serpin family F member 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1342519 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28116328|PMID:28492532|PMID:29150909|PMID:29807018|PMID:30968248|PMID:32413570|PMID:33093841 8729020 Serpinf1 serpin family F member 1 gene DOID:12986 leukostasis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy; human protein in a rat model PMID:16797605|REF_RGD_ID:8554884 8729020 Serpinf1 serpin family F member 1 gene DOID:13025 retinopathy of prematurity ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina (rat) PMID:21738387|REF_RGD_ID:8655555 8729020 Serpinf1 serpin family F member 1 gene DOID:13141 uveitis ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19553628 8729020 Serpinf1 serpin family F member 1 gene DOID:13141 uveitis ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:16973658|REF_RGD_ID:8554887 8729020 Serpinf1 serpin family F member 1 gene DOID:13141 uveitis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Keratitis; human protein in a rat model PMID:19553628|REF_RGD_ID:8554902 8729020 Serpinf1 serpin family F member 1 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:vitreous fluid (human) PMID:15059706|REF_RGD_ID:1580135 8729020 Serpinf1 serpin family F member 1 gene DOID:13207 proliferative diabetic retinopathy treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD PMID:11723044|REF_RGD_ID:8554895 8729020 Serpinf1 serpin family F member 1 gene DOID:13514 venous tributary occlusion of retina ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous humor (human) PMID:20714746|REF_RGD_ID:8554903 8729020 Serpinf1 serpin family F member 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:27748324|REF_RGD_ID:27226704 8729020 Serpinf1 serpin family F member 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:decreased expression:plasma (human) PMID:6158114|REF_RGD_ID:36174004 8729020 Serpinf1 serpin family F member 1 gene DOID:14330 Parkinson's disease severity ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum, extracellular exosome (human) PMID:31593110|REF_RGD_ID:27226691 8729020 Serpinf1 serpin family F member 1 gene DOID:1727 retinal vein occlusion ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous humor (human) PMID:21275514|REF_RGD_ID:8554901 8729020 Serpinf1 serpin family F member 1 gene DOID:2154 nephroblastoma ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16863836|REF_RGD_ID:2312354 8729020 Serpinf1 serpin family F member 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:18624913|REF_RGD_ID:8613878 8729020 Serpinf1 serpin family F member 1 gene DOID:2450 central retinal vein occlusion ISO RGD:631369 D RGD:9068941 20200609 RGD protein:increased expression:neuroretina (rat) PMID:21487926|REF_RGD_ID:5490120 8729020 Serpinf1 serpin family F member 1 gene DOID:289 endometriosis ISO RGD:631369 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium (rat) PMID:22975116|REF_RGD_ID:8638001 8729020 Serpinf1 serpin family F member 1 gene DOID:289 endometriosis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:23466670|REF_RGD_ID:8590225 8729020 Serpinf1 serpin family F member 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:12067231|REF_RGD_ID:8554892 8729020 Serpinf1 serpin family F member 1 gene DOID:3347 osteosarcoma treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in rat model PMID:17479108|REF_RGD_ID:8633656 8729020 Serpinf1 serpin family F member 1 gene DOID:3347 osteosarcoma treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:17458711|REF_RGD_ID:8655561 8729020 Serpinf1 serpin family F member 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:22714093|REF_RGD_ID:8655545 8729020 Serpinf1 serpin family F member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum, pleural effusion (human) PMID:20230924|REF_RGD_ID:27226710 8729020 Serpinf1 serpin family F member 1 gene DOID:4448 macular degeneration ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:decreased expression:optic choroid (human) PMID:16019000|REF_RGD_ID:8554867 8729020 Serpinf1 serpin family F member 1 gene DOID:4448 macular degeneration ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA:altered expression:retina (rat) PMID:21191149|REF_RGD_ID:8655542 8729020 Serpinf1 serpin family F member 1 gene DOID:4449 macular retinal edema ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human) PMID:20714746|REF_RGD_ID:8554903 8729020 Serpinf1 serpin family F member 1 gene DOID:4449 macular retinal edema treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; human protein in a rat model PMID:21139695|REF_RGD_ID:8655546 8729020 Serpinf1 serpin family F member 1 gene DOID:4724 brain edema treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:17692294|REF_RGD_ID:8554891 8729020 Serpinf1 serpin family F member 1 gene DOID:5052 melioidosis ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:increased expression:plasma (human) PMID:23992406|PMID:25370187|REF_RGD_ID:36174010|REF_RGD_ID:36174011 8729020 Serpinf1 serpin family F member 1 gene DOID:5052 melioidosis severity ISO RGD:1332124 D RGD:9068941 20200723 RGD PMID:23992406|REF_RGD_ID:36174010 8729020 Serpinf1 serpin family F member 1 gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:23295464|REF_RGD_ID:8635395 8729020 Serpinf1 serpin family F member 1 gene DOID:6039 uveal melanoma severity ISO RGD:1332124 D RGD:9068941 20200609 RGD PMID:23793989|REF_RGD_ID:8554893 8729020 Serpinf1 serpin family F member 1 gene DOID:630 genetic disease ISO RGD:1342519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8729020 Serpinf1 serpin family F member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Human Viral Hepatitis, liver cirrhosis;protein:increased expression:serum (human) PMID:27748324|REF_RGD_ID:27226704 8729020 Serpinf1 serpin family F member 1 gene DOID:768 retinoblastoma treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein and tumor xenograft in a mouse model PMID:19832843|REF_RGD_ID:8554870 8729020 Serpinf1 serpin family F member 1 gene DOID:8463 corneal ulcer ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19553628 8729020 Serpinf1 serpin family F member 1 gene DOID:8466 retinal degeneration treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:10600408|REF_RGD_ID:8554889 8729020 Serpinf1 serpin family F member 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16321154|REF_RGD_ID:28867246 8729020 Serpinf1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1332124 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor PMID:18025835|REF_RGD_ID:2312344 8729020 Serpinf1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum PMID:18455830|REF_RGD_ID:2312341 8729020 Serpinf1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human) PMID:17658465|REF_RGD_ID:2312346 8729020 Serpinf1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:alternative form:vitreous humor PMID:19365032|REF_RGD_ID:2312337 8729020 Serpinf1 serpin family F member 1 gene DOID:8947 diabetic retinopathy ISO RGD:631369 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina PMID:16054135|REF_RGD_ID:2312348 8729020 Serpinf1 serpin family F member 1 gene DOID:8947 diabetic retinopathy severity ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:15059706|REF_RGD_ID:1580135 8729020 Serpinf1 serpin family F member 1 gene DOID:9000058 Keloid ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8729020 Serpinf1 serpin family F member 1 gene DOID:9000058 Keloid ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:skin of body (human) PMID:20128793|REF_RGD_ID:27226709 8729020 Serpinf1 serpin family F member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:15313905|REF_RGD_ID:2312355 8729020 Serpinf1 serpin family F member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:631369 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:15313905|REF_RGD_ID:2312355 8729020 Serpinf1 serpin family F member 1 gene DOID:9000998 Brain Injuries ISO RGD:631369 D RGD:9068941 20200609 RGD protein:altered expression:cerebellum (rat) PMID:17709187|REF_RGD_ID:8622925 8729020 Serpinf1 serpin family F member 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:20142768|REF_RGD_ID:8612994 8729020 Serpinf1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:16490490|REF_RGD_ID:8554883 8729020 Serpinf1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:15312607|REF_RGD_ID:2312356 8729020 Serpinf1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:11424092|PMID:12037010|PMID:19778186|REF_RGD_ID:27226711|REF_RGD_ID:28867245|REF_RGD_ID:8554866 8729020 Serpinf1 serpin family F member 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:19850839|REF_RGD_ID:8655557 8729020 Serpinf1 serpin family F member 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA:increased expression:pelvic ganglion (rat) PMID:22300381|REF_RGD_ID:7241556 8729020 Serpinf1 serpin family F member 1 gene DOID:9001542 Albuminuria treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; human gene in a rat model PMID:16731830|REF_RGD_ID:8554875 8729020 Serpinf1 serpin family F member 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:16822505|REF_RGD_ID:8554871 8729020 Serpinf1 serpin family F member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma (human) PMID:18523656|REF_RGD_ID:8554896 8729020 Serpinf1 serpin family F member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:renal cortex, renal medulla (rat) PMID:15616035|REF_RGD_ID:1359799 8729020 Serpinf1 serpin family F member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:23884140|REF_RGD_ID:8554865 8729020 Serpinf1 serpin family F member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21671747 8729020 Serpinf1 serpin family F member 1 gene DOID:9002304 Prostatic Neoplasms treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:20360944|REF_RGD_ID:8593319 8729020 Serpinf1 serpin family F member 1 gene DOID:9002669 Hypoxia ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina (rat) PMID:18331686|REF_RGD_ID:8655558 8729020 Serpinf1 serpin family F member 1 gene DOID:9002909 Oxygen-Induced Retinopathy susceptibility ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina (rat) PMID:11916948|REF_RGD_ID:8655544 8729020 Serpinf1 serpin family F member 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21281801|REF_RGD_ID:8554878 8729020 Serpinf1 serpin family F member 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1342519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8729020 Serpinf1 serpin family F member 1 gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:17850801|REF_RGD_ID:8655540 8729020 Serpinf1 serpin family F member 1 gene DOID:9004042 Olfaction Disorders ISO RGD:631369 D RGD:9068941 20200609 RGD mRNA:decreased expression:olfactory bulb (rat) PMID:23825416|REF_RGD_ID:8655547 8729020 Serpinf1 serpin family F member 1 gene DOID:9004332 Osteoarthritis, Experimental severity ISO RGD:1332124 D RGD:9068941 20200609 RGD PMID:28122611|REF_RGD_ID:27226703 8729020 Serpinf1 serpin family F member 1 gene DOID:9005372 Inflammation ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathy PMID:18322021|REF_RGD_ID:2312342 8729020 Serpinf1 serpin family F member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:631369 D RGD:9068941 20200609 RGD protein:decreased expression:platelet PMID:19237211|REF_RGD_ID:2312338 8729020 Serpinf1 serpin family F member 1 gene DOID:9005930 Endotoxemia ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:increased expression:plasma (human) PMID:12386642|REF_RGD_ID:36174005 8729020 Serpinf1 serpin family F member 1 gene DOID:9005966 Staphylococcal Skin Infections severity ISO RGD:1332124 D RGD:9068941 20200723 RGD PMID:25515118|REF_RGD_ID:36174009 8729020 Serpinf1 serpin family F member 1 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human gene in a rat model PMID:17525281|REF_RGD_ID:8618841 8729020 Serpinf1 serpin family F member 1 gene DOID:9006550 hepatosplenic schistosomiasis ISO RGD:1342519 D RGD:9068941 20200613 RGD PMID:9038736|REF_RGD_ID:30296660 8729020 Serpinf1 serpin family F member 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:631369 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18996124|REF_RGD_ID:2312349 8729020 Serpinf1 serpin family F member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1342519 D RGD:9068941 20200611 RGD associated with chronic kidney disease;protein:increased expression:blood (human) PMID:11045282|REF_RGD_ID:30296653 8729020 Serpinf1 serpin family F member 1 gene DOID:9007367 Septic Peritonitis ISO RGD:1342519 D RGD:9068941 20200613 RGD protein:increased expression:peritoneal fluid (human) PMID:8869327|REF_RGD_ID:30296661 8729020 Serpinf1 serpin family F member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19073347|REF_RGD_ID:2312339 8729020 Serpinf1 serpin family F member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:22714715|REF_RGD_ID:8655563 8729020 Serpinf1 serpin family F member 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:24288442|REF_RGD_ID:8642993 8729020 Serpinf1 serpin family F member 1 gene DOID:9007748 Retinal Neovascularization treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD associated with Oxygen-Induced Retinopathy; human protein in a mouse model PMID:11867604|REF_RGD_ID:8554881 8729020 Serpinf1 serpin family F member 1 gene DOID:9007835 Sickle Cell Retinopathy ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:retinal blood vessels (human) PMID:12957143|REF_RGD_ID:8554869 8729020 Serpinf1 serpin family F member 1 gene DOID:9008609 Endotoxin-Induced Uveitis ISO RGD:631369 D RGD:9068941 20200609 RGD protein:decreased expression:retina, plasma (rat) PMID:16368716|REF_RGD_ID:1580133 8729020 Serpinf1 serpin family F member 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1342519 D RGD:9068941 20220909 RGD PMID:23393224|REF_RGD_ID:153350137 8729020 Serpinf1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18715664|REF_RGD_ID:2312340 8729020 Serpinf1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:631369 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:17653050|REF_RGD_ID:8554888 8729020 Serpinf1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:631369 D RGD:9068941 20200609 RGD PMID:24530621|REF_RGD_ID:8655541 8729020 Serpinf1 serpin family F member 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1342519 D RGD:9068941 20200609 RGD human protein in a rat model PMID:24530621|REF_RGD_ID:8655541 8729020 Serpinf1 serpin family F member 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1342519 D RGD:9068941 20200723 RGD protein:increased expression:plasma (human) PMID:18939350|REF_RGD_ID:36174007 8729020 Serpinf1 serpin family F member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1342519 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17971181|REF_RGD_ID:2312345 8729020 Serpinf1 serpin family F member 1 gene DOID:9970 obesity ISO RGD:1342519 D RGD:9068941 20200609 RGD PMID:17491674|REF_RGD_ID:2312347 8729020 Serpinf1 serpin family F member 1 gene DOID:9970 obesity ISO RGD:631369 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:24424059|REF_RGD_ID:8633067 8729035 Rbm27 RNA binding motif protein 27 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8729035 Rbm27 RNA binding motif protein 27 gene DOID:630 genetic disease ISO RGD:1323694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729035 Rbm27 RNA binding motif protein 27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8729035 Rbm27 RNA binding motif protein 27 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:733521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:733521 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a PMID:25741868|PMID:28492532 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050771 pheochromocytoma ISO RGD:733521 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:16199547|PMID:22974104|PMID:24781757|PMID:25741868|PMID:26556299|PMID:28492532|PMID:29177515|PMID:30877234|PMID:32782288|PMID:34750850 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050773 paraganglioma ISO RGD:733521 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:23666964|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28724664|PMID:28873162|PMID:30201732|PMID:30680959|PMID:31527833 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0050773 paraganglioma ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:22974104|PMID:23666964|PMID:24033266|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28798025|PMID:29978154|PMID:30201732|PMID:30680959|PMID:30775854|PMID:31527833|PMID:32462735|PMID:32570879|PMID:34014604|PMID:35059314 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:733521 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency PMID:11423010|PMID:1492653|PMID:15989954|PMID:16195397|PMID:17298551|PMID:17376234|PMID:17576681|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23109135|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27535533|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28750076|PMID:28798025|PMID:28819017|PMID:29177515|PMID:29488078|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30775854|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32462735|PMID:32570879|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34732400|PMID:35059314|PMID:35441217|PMID:7550341|PMID:9536098 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:733521 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0080000 muscular disease ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Skeletal muscle disease PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28798025|PMID:29978154|PMID:30775854|PMID:32570879 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy ISO RGD:733521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy PMID:25741868|PMID:28492532 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:733521 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868|PMID:28492532 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0110435 dilated cardiomyopathy 1GG ISO RGD:733521 D RGD:7240710 20180418 OMIM 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:0110435 dilated cardiomyopathy 1GG ISO RGD:733521 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1GG PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:12525685|PMID:12794685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16798039|PMID:17480203|PMID:17576681|PMID:17889661|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:20551992|PMID:21505157|PMID:21752896|PMID:21822798|PMID:22429592|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:24033266|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:26700204|PMID:27011036|PMID:27390349|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29489754|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30549360|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:31981491|PMID:32255556|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32782288|PMID:32887801|PMID:33077847|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34286374|PMID:34711244|PMID:34750850|PMID:35059314|PMID:35441217|PMID:35598585|PMID:36183138|PMID:36757698|PMID:7550341|PMID:9536098 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:12930 dilated cardiomyopathy ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:26467025|PMID:28492532 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:14330 Parkinson's disease ISO RGD:733521 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra, neuron PMID:26605748|REF_RGD_ID:13504667 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3247 rhabdomyosarcoma ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10746566|PMID:15989954|PMID:20484225|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:26722403|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28166811|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33674644|PMID:33960148|PMID:7550341 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33674644|PMID:33960148|PMID:7550341 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:7550341 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32462735|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:35059314|PMID:7550341 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32462735|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:35059314|PMID:7550341 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11423010|PMID:1492653|PMID:16195397|PMID:16798039|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30680959|PMID:30728243|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31666924|PMID:31827275|PMID:32462735|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:35059314|PMID:7550341 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3652 Leigh disease ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease PMID:11423010|PMID:1492653|PMID:16195397|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24448499|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:27011036|PMID:27493882|PMID:27895137|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28798025|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30680959|PMID:30775854|PMID:30877234|PMID:31368675|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31666924|PMID:31827275|PMID:32091409|PMID:32373528|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34754157|PMID:35059314|PMID:35441217|PMID:36253524|PMID:7550341 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:733521 D RGD:9068941 20210820 RGD DNA:SNP: 3'utr (rs13173911) (human) PMID:25576295|REF_RGD_ID:150340558 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:423 myopathy ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Skeletal myopathy PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28798025|PMID:29978154|PMID:30775854|PMID:32570879 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:4455 hereditary renal cell carcinoma ISO RGD:733521 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma PMID:25741868|PMID:26467025|PMID:28492532|PMID:28546994|PMID:30680959|PMID:31527833 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:4851 pilocytic astrocytoma ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:630 genetic disease ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10976639|PMID:15989954|PMID:22904323|PMID:23612575|PMID:25741868|PMID:26198225|PMID:26467025|PMID:26700204|PMID:27683074|PMID:28492532|PMID:28724664|PMID:29177515|PMID:33397040 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:8398 osteoarthritis ISO RGD:733521 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:11423010|PMID:1492653|PMID:16195397|PMID:17298551|PMID:17376234|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28798025|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30680959|PMID:30775854|PMID:30877234|PMID:31368675|PMID:31527833|PMID:31589614|PMID:31827275|PMID:32462735|PMID:32570879|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:34014604|PMID:34286374|PMID:35059314|PMID:35441217|PMID:7550341 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9001087 Opsoclonus-Myoclonus Syndrome ISO RGD:733521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome PMID:22955521|PMID:22974104|PMID:24781757|PMID:25720320|PMID:25741868|PMID:28492532|PMID:29177515|PMID:29978154|PMID:30854332|PMID:30877234|PMID:31589614|PMID:31981491|PMID:32581362|PMID:33854214 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9002091 Paragangliomas 5 ISO RGD:733521 D RGD:7240710 20180130 OMIM 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9002091 Paragangliomas 5 ISO RGD:733521 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5 | ClinVar Annotator: match by term: Paragangliomas 5 PMID:10721988|PMID:10746566|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16798039|PMID:17298551|PMID:17376234|PMID:17576681|PMID:17889661|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21858060|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26689913|PMID:26722403|PMID:27011036|PMID:27390349|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:29177515|PMID:29483670|PMID:29488078|PMID:29625052|PMID:29695869|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30680959|PMID:30775854|PMID:30854332|PMID:30877234|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32373528|PMID:32461654|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32621582|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33362715|PMID:33372952|PMID:33606809|PMID:33674644|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34711244|PMID:34732400|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35441217|PMID:36253524|PMID:36757698|PMID:7550341|PMID:9536098 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:733521 D RGD:7240710 20210203 OMIM 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:733521 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:12794685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:20551992|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22517557|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23633203|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29488078|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30276801|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32621582|PMID:32688340|PMID:32694775|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397040|PMID:33397043|PMID:33500567|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34711244|PMID:34732400|PMID:34750850|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35441217|PMID:35598585|PMID:36183138|PMID:36253524|PMID:36315513|PMID:36757698|PMID:7550341|PMID:8967754|PMID:9536098 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:11423010|PMID:17298551|PMID:17376234|PMID:20484225|PMID:21858060|PMID:22904323|PMID:22974104|PMID:23666964|PMID:24033266|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25741868|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28546994|PMID:28714951|PMID:28724664|PMID:28798025|PMID:29978154|PMID:30201732|PMID:30680959|PMID:30775854|PMID:31527833|PMID:32462735|PMID:32570879|PMID:34014604|PMID:35059314 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9006014 Peritoneal Adhesions ISO RGD:621557 D RGD:9068941 20200609 RGD mRNA:increased expression:peritoneum PMID:22569713|REF_RGD_ID:13825244 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10746566|PMID:11423010|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27493882|PMID:27535533|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28166811|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28724664|PMID:28748451|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29527294|PMID:29872718|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31413764|PMID:31527833|PMID:32971818|PMID:7550341|PMID:9536098 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10746566|PMID:11423010|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27493882|PMID:27535533|PMID:27847310|PMID:27854218|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28724664|PMID:28748451|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29527294|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31368675|PMID:31413764|PMID:31527833|PMID:31589614|PMID:31827275|PMID:31981491|PMID:32581362|PMID:32741965|PMID:32971818|PMID:33077847|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33960148|PMID:34711244|PMID:7550341|PMID:9536098 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10721988|PMID:10746566|PMID:10976639|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26689913|PMID:26700204|PMID:26722403|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30728243|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31827275|PMID:31981491|PMID:32255556|PMID:32326906|PMID:32462735|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33362715|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33854214|PMID:33960148|PMID:34711244|PMID:35059314|PMID:7550341|PMID:8967754|PMID:9536098 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29488078|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32326906|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34711244|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35441217|PMID:35598585|PMID:36183138|PMID:36253524|PMID:36315513|PMID:36757698|PMID:7550341|PMID:8967754|PMID:9536098 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733521 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10721988|PMID:10746566|PMID:10976639|PMID:11004445|PMID:11423010|PMID:12525685|PMID:1492653|PMID:15989954|PMID:16195397|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17298551|PMID:17376234|PMID:17480203|PMID:17576681|PMID:17889661|PMID:18156177|PMID:19179534|PMID:19628817|PMID:20484225|PMID:20489732|PMID:21505157|PMID:21752896|PMID:21822798|PMID:21858060|PMID:22429592|PMID:22577165|PMID:22677546|PMID:22904323|PMID:22955521|PMID:22972948|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23282968|PMID:23612575|PMID:23666964|PMID:23730622|PMID:23750034|PMID:23797725|PMID:23833252|PMID:24033266|PMID:24096523|PMID:24448499|PMID:24694336|PMID:24781757|PMID:25363768|PMID:25394176|PMID:25405498|PMID:25412673|PMID:25488574|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26334176|PMID:26443593|PMID:26467025|PMID:26490314|PMID:26556299|PMID:26642834|PMID:26689913|PMID:26700204|PMID:26722403|PMID:2674654|PMID:27011036|PMID:27153395|PMID:27390349|PMID:27391121|PMID:27493882|PMID:27535533|PMID:27683039|PMID:27683074|PMID:27847310|PMID:27895137|PMID:27986441|PMID:28380452|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28552549|PMID:28615448|PMID:28714951|PMID:28724664|PMID:28748451|PMID:28750076|PMID:28798025|PMID:28819017|PMID:28873162|PMID:28878254|PMID:29177515|PMID:29483670|PMID:29488078|PMID:29514959|PMID:29527294|PMID:29625052|PMID:29695869|PMID:29778030|PMID:29804836|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30201732|PMID:30455982|PMID:30541135|PMID:30549360|PMID:30680959|PMID:30703481|PMID:30775854|PMID:30854332|PMID:30877234|PMID:31069529|PMID:31212687|PMID:31368675|PMID:31413764|PMID:31512412|PMID:31527833|PMID:31589614|PMID:31665838|PMID:31666924|PMID:31794323|PMID:31827275|PMID:31981491|PMID:32091409|PMID:32255556|PMID:32326906|PMID:32373528|PMID:32461654|PMID:32462735|PMID:32561571|PMID:32570879|PMID:32581362|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32887801|PMID:32971818|PMID:33077847|PMID:33219105|PMID:33362715|PMID:33372952|PMID:33397043|PMID:33606809|PMID:33674644|PMID:33715142|PMID:33726816|PMID:33854214|PMID:33960148|PMID:34014604|PMID:34286374|PMID:34711244|PMID:34732400|PMID:34750850|PMID:34754157|PMID:35014173|PMID:35059314|PMID:35441217|PMID:35598585|PMID:36183138|PMID:36253524|PMID:36315513|PMID:36757698|PMID:7550341|PMID:8967754|PMID:9536098 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007098 Pulmonary Atresia ISO RGD:733521 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007167 Carney Triad ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25494863|PMID:25525159|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:35059314|PMID:35441217 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007959 Neurodegeneration with Ataxia and Late-Onset Optic Atrophy ISO RGD:733521 D RGD:7240710 20210414 OMIM 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9007959 Neurodegeneration with Ataxia and Late-Onset Optic Atrophy ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neurodegeneration with ataxia and late-onset optic atrophy PMID:10746566|PMID:10976639|PMID:16199547|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22955521|PMID:22974104|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24033266|PMID:24781757|PMID:25394176|PMID:25494863|PMID:25525159|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27683074|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30050099|PMID:30068732|PMID:30877234|PMID:31368675|PMID:31413764|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:32971818|PMID:33077847|PMID:33372952|PMID:33397043|PMID:33674644|PMID:33960148|PMID:35014173|PMID:35059314|PMID:35441217|PMID:8967754 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9008952 Breast Cancer, Familial ISO RGD:733521 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733521 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10976639|PMID:16361598|PMID:16371358|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33674644|PMID:33960148|PMID:8967754|PMID:9536098 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733521 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10976639|PMID:16361598|PMID:16371358|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33674644|PMID:33960148|PMID:8967754|PMID:9536098 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:10976639|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:33077847|PMID:33372952|PMID:33397040|PMID:33674644|PMID:33960148|PMID:35059314|PMID:8967754|PMID:9536098 8729065 Sdha succinate dehydrogenase complex flavoprotein subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:10976639|PMID:16199547|PMID:16361598|PMID:16371358|PMID:16798039|PMID:16935256|PMID:17576681|PMID:19628817|PMID:20484225|PMID:21505157|PMID:21752896|PMID:22577165|PMID:22955521|PMID:22974104|PMID:23043141|PMID:23060355|PMID:23109135|PMID:23154507|PMID:23174939|PMID:23252569|PMID:23612575|PMID:23666964|PMID:23730622|PMID:24781757|PMID:25405498|PMID:25494863|PMID:25525159|PMID:25595276|PMID:25720320|PMID:25741868|PMID:26113600|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26467025|PMID:26490314|PMID:26689913|PMID:27011036|PMID:27390349|PMID:27683074|PMID:27847310|PMID:27895137|PMID:28384794|PMID:28492532|PMID:28500238|PMID:28546994|PMID:28724664|PMID:28819017|PMID:29177515|PMID:29625052|PMID:29872718|PMID:29978154|PMID:29978187|PMID:30068732|PMID:30201732|PMID:30877234|PMID:31368675|PMID:31589614|PMID:31827275|PMID:32581362|PMID:32782288|PMID:33077847|PMID:33372952|PMID:33397040|PMID:33674644|PMID:33726816|PMID:33960148|PMID:35059314|PMID:35441217|PMID:35598585|PMID:8967754|PMID:9536098 8729092 Fap fibroblast activation protein alpha gene DOID:12849 autistic disorder ISO RGD:732069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 8729092 Fap fibroblast activation protein alpha gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732069 D RGD:9068941 20220526 RGD protein:increased expression: esophagus PMID:24789592|REF_RGD_ID:152600903 8729092 Fap fibroblast activation protein alpha gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:732069 D RGD:9068941 20220526 RGD PMID:26252379|REF_RGD_ID:152600901 8729092 Fap fibroblast activation protein alpha gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732069 D RGD:9068941 20220526 RGD PMID:29415055|REF_RGD_ID:152600902 8729092 Fap fibroblast activation protein alpha gene DOID:630 genetic disease ISO RGD:732069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:0060041 autism spectrum disorder ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1315674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:12849 autistic disorder ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:574 peripheral nervous system disease ISO RGD:1315674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:630 genetic disease ISO RGD:1315674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:28633435|PMID:32202298|PMID:9536098 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:870 neuropathy ISO RGD:1315674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1315674 D RGD:7240710 20190315 OMIM 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MCM3AP-related condition | ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development PMID:17576681|PMID:25741868|PMID:28492532|PMID:28633435|PMID:28969388|PMID:29982295|PMID:32202298|PMID:9536098 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:9263 homocystinuria ISO RGD:1315674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8729120 Mcm3ap minichromosome maintenance complex component 3 associated protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315674 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:0080475 psoriasis 2 ISO RGD:1345995 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Psoriasis 2 PMID:22521419|PMID:23905699|PMID:24033266|PMID:25741868|PMID:26203641|PMID:27706581|PMID:28492532|PMID:30697821|PMID:31971603|PMID:36174714|PMID:36221432 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1345995 D RGD:7240710 20191106 OMIM 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1345995 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:11793481|PMID:11903343|PMID:12000360|PMID:12438493|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:15637719|PMID:15902564|PMID:16174644|PMID:16199547|PMID:17128482|PMID:17576681|PMID:18407553|PMID:19099774|PMID:19383612|PMID:21061399|PMID:21204211|PMID:21228398|PMID:21393040|PMID:21455105|PMID:21671382|PMID:21910976|PMID:21963080|PMID:22002444|PMID:22976768|PMID:22976788|PMID:23084433|PMID:24314109|PMID:24347096|PMID:24576347|PMID:24816101|PMID:24875751|PMID:25113300|PMID:25557439|PMID:25741868|PMID:25807448|PMID:26075876|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:27896117|PMID:28101780|PMID:28283807|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30070758|PMID:30593151|PMID:30809705|PMID:31536183|PMID:31718697|PMID:32036093|PMID:32214227|PMID:32447333|PMID:32581362|PMID:33673364|PMID:34690354|PMID:34813777|PMID:34991944|PMID:5542396|PMID:7493035|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9536098|PMID:9554748|PMID:9700599|PMID:9744479 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:0111442 optic atrophy 9 ISO RGD:1345995 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Optic atrophy 9 PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:1059 intellectual disability ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24576347|PMID:25741868|PMID:28492532|PMID:32214227|PMID:9285796 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:12798 mucopolysaccharidosis ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:10521831|PMID:10601282|PMID:11182930|PMID:11343308|PMID:12490062|PMID:15146460|PMID:15542396|PMID:18407553|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1345995 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:12000360|PMID:12490062|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22002444|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:24875751|PMID:25557439|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:1289 neurodegenerative disease ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:13250 diarrhea ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:9401012 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1345995 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:22521419|PMID:23905699|PMID:24033266|PMID:25741868|PMID:26203641|PMID:27706581|PMID:28492532|PMID:30387497|PMID:30697821|PMID:31971603|PMID:36174714|PMID:36221432 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism PMID:25741868|PMID:28492532 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:630 genetic disease ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:12000360|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21228398|PMID:21910976|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24347096|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:29023963|PMID:30070758|PMID:30593151|PMID:30809705|PMID:31536183|PMID:34991944|PMID:5542396|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:8501 fundus dystrophy ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:9401012 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:9008086 Developmental Disabilities ISO RGD:1345995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:27590925|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:7493035|PMID:9158154|PMID:9285796|PMID:9401012 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1345995 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:16199547|PMID:17576681|PMID:22521419|PMID:23905699|PMID:24033266|PMID:25741868|PMID:26203641|PMID:27706581|PMID:28166811|PMID:28492532|PMID:30248356|PMID:30387497|PMID:30697821|PMID:30998217|PMID:31971603|PMID:36174714|PMID:36221432|PMID:9536098 8729168 Sgsh N-sulfoglucosamine sulfohydrolase gene DOID:9650 pathologic nystagmus ISO RGD:1345995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31536183|PMID:32581362|PMID:9401012 8729195 Adra1b adrenoceptor alpha 1B gene DOID:10763 hypertension ISO RGD:10096 D RGD:9068941 20200609 RGD PMID:16095979|REF_RGD_ID:1625771 8729195 Adra1b adrenoceptor alpha 1B gene DOID:11612 polycystic ovary syndrome ISO RGD:2054 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 8729195 Adra1b adrenoceptor alpha 1B gene DOID:2018 hyperinsulinism susceptibility ISO RGD:10096 D RGD:9068941 20200609 RGD PMID:14581480|REF_RGD_ID:1625772 8729195 Adra1b adrenoceptor alpha 1B gene DOID:3602 toxic encephalopathy ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19125850 8729195 Adra1b adrenoceptor alpha 1B gene DOID:557 kidney disease ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18257748 8729195 Adra1b adrenoceptor alpha 1B gene DOID:630 genetic disease ISO RGD:733119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729195 Adra1b adrenoceptor alpha 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8729195 Adra1b adrenoceptor alpha 1B gene DOID:9002955 Nerve Degeneration ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12871582 8729195 Adra1b adrenoceptor alpha 1B gene DOID:9003936 Cardiomegaly ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11278430|PMID:11940550 8729195 Adra1b adrenoceptor alpha 1B gene DOID:9006024 Hypotension ISO RGD:733119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11278430 8729195 Adra1b adrenoceptor alpha 1B gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:10096 D RGD:9068941 20200609 RGD PMID:14581480|REF_RGD_ID:1625772 8729233 Lasp1 LIM and SH3 protein 1 gene DOID:12849 autistic disorder ISO RGD:68601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376794 8729233 Lasp1 LIM and SH3 protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:68601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8729233 Lasp1 LIM and SH3 protein 1 gene DOID:630 genetic disease ISO RGD:68601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729233 Lasp1 LIM and SH3 protein 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:68601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28232485 8729245 Ddhd2 DDHD domain containing 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1318138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8729245 Ddhd2 DDHD domain containing 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1318138 D RGD:7240710 20180130 OMIM 8729245 Ddhd2 DDHD domain containing 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1318138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:16199547|PMID:16636240|PMID:17576681|PMID:23176823|PMID:23486545|PMID:24337409|PMID:24482476|PMID:24517879|PMID:25417924|PMID:25741868|PMID:28492532|PMID:31271950|PMID:31302745|PMID:32488064|PMID:9536098 8729245 Ddhd2 DDHD domain containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:23176823|PMID:24337409|PMID:24517879|PMID:25417924|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32488064|PMID:9536098 8729245 Ddhd2 DDHD domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1318138 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:33462483 8729245 Ddhd2 DDHD domain containing 2 gene DOID:607 paraplegia ISO RGD:1318138 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8729245 Ddhd2 DDHD domain containing 2 gene DOID:630 genetic disease ISO RGD:1318138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8729245 Ddhd2 DDHD domain containing 2 gene DOID:9970 obesity ISO RGD:1318138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:23176823|PMID:24337409|PMID:24517879|PMID:25417924|PMID:25741868|PMID:28492532|PMID:32488064 8729266 Gpr37l1 G protein-coupled receptor 37 like 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8729266 Gpr37l1 G protein-coupled receptor 37 like 1 gene DOID:13938 amenorrhea ISO RGD:1606828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8729266 Gpr37l1 G protein-coupled receptor 37 like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8729266 Gpr37l1 G protein-coupled receptor 37 like 1 gene DOID:630 genetic disease ISO RGD:1606828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729266 Gpr37l1 G protein-coupled receptor 37 like 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606828 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8729266 Gpr37l1 G protein-coupled receptor 37 like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8729280 Tmbim4 transmembrane BAX inhibitor motif containing 4 gene DOID:5119 ovarian cyst ISO RGD:1602117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8729280 Tmbim4 transmembrane BAX inhibitor motif containing 4 gene DOID:630 genetic disease ISO RGD:1602117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729298 Ston2 stonin 2 gene DOID:630 genetic disease ISO RGD:1604566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729309 Gnmt glycine N-methyltransferase gene DOID:0050444 infantile Refsum disease ISO RGD:732912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:26669662|PMID:27779215|PMID:28492532|PMID:8670792 8729309 Gnmt glycine N-methyltransferase gene DOID:0050544 hypermethioninemia ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11596649|PMID:11810299 8729309 Gnmt glycine N-methyltransferase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31086990 8729309 Gnmt glycine N-methyltransferase gene DOID:0111037 glycine N-methyltransferase deficiency ISO RGD:732912 D RGD:7240710 20180214 OMIM 8729309 Gnmt glycine N-methyltransferase gene DOID:0111037 glycine N-methyltransferase deficiency ISO RGD:732912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycine N-methyltransferase deficiency PMID:11596649|PMID:11810299|PMID:14739680|PMID:28492532 8729309 Gnmt glycine N-methyltransferase gene DOID:2237 hepatitis ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21137059 8729309 Gnmt glycine N-methyltransferase gene DOID:630 genetic disease ISO RGD:732912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8729309 Gnmt glycine N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:10671 D RGD:9068941 20220825 MouseDO OMIM:114550 8729309 Gnmt glycine N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19146867|PMID:31086990 8729309 Gnmt glycine N-methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17332283 8729309 Gnmt glycine N-methyltransferase gene DOID:9007188 Liver Neoplasms ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21137059 8729309 Gnmt glycine N-methyltransferase gene DOID:9008510 Chronic Hepatitis ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19146867 8729309 Gnmt glycine N-methyltransferase gene DOID:905 Zellweger syndrome ISO RGD:732912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:26669662|PMID:27779215|PMID:28492532|PMID:8670792 8729309 Gnmt glycine N-methyltransferase gene DOID:9279 hyperhomocysteinemia ISO RGD:732912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317120 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1319306 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:12016587|PMID:20177705|PMID:20498079|PMID:25741868|PMID:28492532 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:0110126 Bardet-Biedl syndrome 4 ISO RGD:1319306 D RGD:7240710 20180130 OMIM 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:0110126 Bardet-Biedl syndrome 4 ISO RGD:1319306 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BBS4-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 PMID:11381270|PMID:12016587|PMID:12524598|PMID:12872256|PMID:15654695|PMID:15666242|PMID:16199547|PMID:17576681|PMID:19402160|PMID:19858128|PMID:20177705|PMID:20498079|PMID:21344540|PMID:22353939|PMID:23591405|PMID:25741868|PMID:26518167|PMID:27208204|PMID:27486776|PMID:27894351|PMID:28492532|PMID:29039417|PMID:31964843|PMID:31980526|PMID:32531858|PMID:33777945|PMID:34906470|PMID:35456422|PMID:35886001|PMID:388431|PMID:7711739|PMID:9536098 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:0110225 Brugada syndrome 8 ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319306 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11381270|PMID:12016587|PMID:20177705|PMID:25741868|PMID:27894351|PMID:28492532|PMID:32531858|PMID:34906470 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:1059 intellectual disability ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:11981 morbid obesity susceptibility ISO RGD:1319306 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17003356|REF_RGD_ID:1601311 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319306 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11381270|PMID:12016587|PMID:12524598|PMID:12872256|PMID:15654695|PMID:15666242|PMID:15770229|PMID:16199547|PMID:17558852|PMID:17576681|PMID:19402160|PMID:19797195|PMID:19858128|PMID:20177705|PMID:20498079|PMID:21344540|PMID:22219648|PMID:22353939|PMID:23432027|PMID:23591405|PMID:24849935|PMID:25741868|PMID:27208204|PMID:27486776|PMID:27894351|PMID:28492532|PMID:30614526|PMID:30718709|PMID:31980526|PMID:32531858|PMID:34906470|PMID:35456422|PMID:35886001|PMID:388431|PMID:7711739|PMID:9536098 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:2717 Bloom syndrome ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:3320 Tay-Sachs disease ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:5419 schizophrenia ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:630 genetic disease ISO RGD:1319306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:8466 retinal degeneration severity ISO RGD:1323204 D RGD:9068941 20200609 RGD PMID:23943788|REF_RGD_ID:11537379 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:8501 fundus dystrophy ISO RGD:1319306 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11381270|PMID:12016587|PMID:16199547|PMID:17576681|PMID:20177705|PMID:25741868|PMID:27208204|PMID:27894351|PMID:28492532|PMID:9536098 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:9256 colorectal cancer ISO RGD:1319306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:9970 obesity ISO RGD:1319307 D RGD:9068941 20220825 MouseDO OMIM:601665 8729318 Bbs4 Bardet-Biedl syndrome 4 gene DOID:9970 obesity onset ISO RGD:1319306 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17003356|REF_RGD_ID:1601311 8729342 Pacrgl parkin coregulated like gene DOID:630 genetic disease ISO RGD:1605875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729368 Tbcd tubulin folding cofactor D gene DOID:0060455 Thiel-Behnke corneal dystrophy ISO RGD:1317676 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy PMID:25741868|PMID:28492532 8729368 Tbcd tubulin folding cofactor D gene DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum ISO RGD:1317676 D RGD:7240710 20190315 OMIM 8729368 Tbcd tubulin folding cofactor D gene DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum ISO RGD:1317676 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | ClinVar Annotator: match by term: TBCD-related condition PMID:16199547|PMID:25741868|PMID:27666370|PMID:27666374|PMID:27807845|PMID:28158450|PMID:28492532|PMID:29769041|PMID:30426380|PMID:31019026|PMID:31240573|PMID:31395954|PMID:31569255|PMID:32705489|PMID:33190326|PMID:34120799|PMID:34423067|PMID:35586607|PMID:36114283 8729368 Tbcd tubulin folding cofactor D gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 8729368 Tbcd tubulin folding cofactor D gene DOID:1059 intellectual disability ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 8729368 Tbcd tubulin folding cofactor D gene DOID:10907 microcephaly ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370|PMID:27666374 8729368 Tbcd tubulin folding cofactor D gene DOID:11162 respiratory failure ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666374 8729368 Tbcd tubulin folding cofactor D gene DOID:12835 quadriplegia ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 8729368 Tbcd tubulin folding cofactor D gene DOID:1289 neurodegenerative disease ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 8729368 Tbcd tubulin folding cofactor D gene DOID:5723 optic atrophy ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 8729368 Tbcd tubulin folding cofactor D gene DOID:630 genetic disease ISO RGD:1317676 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27666370|PMID:27666374|PMID:28492532|PMID:33190326|PMID:36114283 8729368 Tbcd tubulin folding cofactor D gene DOID:9001638 Seborrhea-Like Dermatitis with Psoriasiform Elements ISO RGD:1317676 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seborrhea-like dermatitis with psoriasiform elements PMID:16751772|PMID:25741868 8729368 Tbcd tubulin folding cofactor D gene DOID:9005532 Muscle Weakness ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666374 8729368 Tbcd tubulin folding cofactor D gene DOID:9008086 Developmental Disabilities ISO RGD:1317676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27666370 8729417 Kiaa0753 KIAA0753 ortholog gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605106 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532|PMID:29138412|PMID:31816441|PMID:34529350 8729417 Kiaa0753 KIAA0753 ortholog gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 8729417 Kiaa0753 KIAA0753 ortholog gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1605106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8729417 Kiaa0753 KIAA0753 ortholog gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1605106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8729417 Kiaa0753 KIAA0753 ortholog gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1605106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8729417 Kiaa0753 KIAA0753 ortholog gene DOID:630 genetic disease ISO RGD:1605106 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29138412 8729417 Kiaa0753 KIAA0753 ortholog gene DOID:9005357 Orofaciodigital Syndrome XV ISO RGD:1605106 D RGD:7240710 20190315 OMIM 8729417 Kiaa0753 KIAA0753 ortholog gene DOID:9005357 Orofaciodigital Syndrome XV ISO RGD:1605106 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome XV PMID:17576681|PMID:25741868|PMID:26643951|PMID:28492532|PMID:29138412|PMID:34529350|PMID:9536098 8729417 Kiaa0753 KIAA0753 ortholog gene DOID:9005615 Joubert Syndrome 38 ISO RGD:1605106 D RGD:7240710 20210825 OMIM 8729417 Kiaa0753 KIAA0753 ortholog gene DOID:9005615 Joubert Syndrome 38 ISO RGD:1605106 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Joubert syndrome 38 PMID:17576681|PMID:25741868|PMID:26643951|PMID:28220259|PMID:28492532|PMID:29138412|PMID:9536098 8729417 Kiaa0753 KIAA0753 ortholog gene DOID:9008070 Short-Rib Thoracic Dysplasia 21 without Polydactyly ISO RGD:1605106 D RGD:7240710 20210825 OMIM 8729417 Kiaa0753 KIAA0753 ortholog gene DOID:9008070 Short-Rib Thoracic Dysplasia 21 without Polydactyly ISO RGD:1605106 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly PMID:25741868|PMID:28492532|PMID:29138412|PMID:31816441|PMID:34016807|PMID:34523780|PMID:34529350 8729440 Ppm1h protein phosphatase, Mg2+/Mn2+ dependent 1H gene DOID:630 genetic disease ISO RGD:1319913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729454 Guca2b guanylate cyclase activator 2B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:736719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8729454 Guca2b guanylate cyclase activator 2B gene DOID:1184 nephrotic syndrome ISO RGD:736719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15780094 8729454 Guca2b guanylate cyclase activator 2B gene DOID:630 genetic disease ISO RGD:736719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729454 Guca2b guanylate cyclase activator 2B gene DOID:783 end stage renal disease ISO RGD:736719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15780094 8729475 Prr15l proline rich 15 like gene DOID:630 genetic disease ISO RGD:1601848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729488 Psd2 pleckstrin and Sec7 domain containing 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1322340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8729488 Psd2 pleckstrin and Sec7 domain containing 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1322340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8729488 Psd2 pleckstrin and Sec7 domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8729488 Psd2 pleckstrin and Sec7 domain containing 2 gene DOID:630 genetic disease ISO RGD:1322340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729488 Psd2 pleckstrin and Sec7 domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8729488 Psd2 pleckstrin and Sec7 domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8729523 Slc12a9 solute carrier family 12 member 9 gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1347947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 7 PMID:25741868|PMID:28492532 8729523 Slc12a9 solute carrier family 12 member 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8729523 Slc12a9 solute carrier family 12 member 9 gene DOID:630 genetic disease ISO RGD:1347947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729523 Slc12a9 solute carrier family 12 member 9 gene DOID:9002861 Capillary Malformation-Arteriovenous Malformation 2 ISO RGD:1347947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 PMID:25741868|PMID:28492532|PMID:28687708 8729546 Kpna2 karyopherin subunit alpha 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1344039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8729546 Kpna2 karyopherin subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1344039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729546 Kpna2 karyopherin subunit alpha 2 gene DOID:9006205 Animal Disease Models ISO RGD:1344039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8729561 Mcmbp minichromosome maintenance complex binding protein gene DOID:630 genetic disease ISO RGD:1315515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729590 Kcnj9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 8729590 Kcnj9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:0060484 EAST syndrome ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 8729590 Kcnj9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8729590 Kcnj9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8729590 Kcnj9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:630 genetic disease ISO RGD:1343442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729590 Kcnj9 potassium inwardly rectifying channel subfamily J member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8729622 Msh3 mutS homolog 3 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8729622 Msh3 mutS homolog 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1353031 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 8729622 Msh3 mutS homolog 3 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:1353031 D RGD:7240710 20190315 OMIM 8729622 Msh3 mutS homolog 3 gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:1353031 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 | ClinVar Annotator: match by term: MSH3-related attenuated familial adenomatous polyposis PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20981092|PMID:21128252|PMID:21153778|PMID:22179786|PMID:23960188|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29641532|PMID:31127692|PMID:31243857|PMID:31589614|PMID:32619037|PMID:32634176|PMID:33193653|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34767783|PMID:34994648|PMID:37402566|PMID:8782829|PMID:9536098 8729622 Msh3 mutS homolog 3 gene DOID:1324 lung cancer ISO RGD:1353031 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:28492532 8729622 Msh3 mutS homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1353031 D RGD:7240710 20190213 OMIM 8729622 Msh3 mutS homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1353031 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: MSH3-related condition PMID:25741868|PMID:26467025|PMID:27476653|PMID:28492532|PMID:29212164|PMID:29641532|PMID:31054147|PMID:33606809|PMID:36652909 8729622 Msh3 mutS homolog 3 gene DOID:2871 endometrial carcinoma ISO RGD:1353031 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:16199547|PMID:17576681|PMID:20154325|PMID:21153778|PMID:22179786|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:27300758|PMID:27476653|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29641532|PMID:30358836|PMID:30740464|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31589614|PMID:32619037|PMID:32634176|PMID:32635641|PMID:33007869|PMID:33193653|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34994648|PMID:36419139|PMID:36652909|PMID:37402566|PMID:8782829|PMID:9536098 8729622 Msh3 mutS homolog 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1353031 D RGD:9068941 20210430 RGD DNA:SNPs: :rs6151627, rs6151670, rs7709909 (human) PMID:28093084|REF_RGD_ID:126848786 8729622 Msh3 mutS homolog 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327329 8729622 Msh3 mutS homolog 3 gene DOID:4435 cavernous sinus meningioma ISO RGD:1353031 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cavernous sinus meningioma PMID:25741868|PMID:26467025|PMID:28492532|PMID:31371350|PMID:31627758 8729622 Msh3 mutS homolog 3 gene DOID:630 genetic disease ISO RGD:1353031 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8729622 Msh3 mutS homolog 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353031 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:28492532 8729622 Msh3 mutS homolog 3 gene DOID:9000027 Microsatellite Instability ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 8729622 Msh3 mutS homolog 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355840 8729622 Msh3 mutS homolog 3 gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:1353031 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: DHFR DEFICIENCY | ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31371350|PMID:31627758 8729622 Msh3 mutS homolog 3 gene DOID:9004351 Digestive System Neoplasms ISO RGD:1353031 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 8729622 Msh3 mutS homolog 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8729622 Msh3 mutS homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353031 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30573798|PMID:30740464|PMID:31054147|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:32619037|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:8782829|PMID:8838312|PMID:9536098 8729622 Msh3 mutS homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353031 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11470537|PMID:16199547|PMID:17576681|PMID:20154325|PMID:20160730|PMID:20421420|PMID:20981092|PMID:21128252|PMID:21153778|PMID:22179786|PMID:23960188|PMID:24033266|PMID:25142776|PMID:25741868|PMID:2635641|PMID:26467025|PMID:26485759|PMID:26837502|PMID:26904404|PMID:27300758|PMID:27476653|PMID:27696107|PMID:28157215|PMID:28211887|PMID:28492532|PMID:28528517|PMID:28873162|PMID:28875981|PMID:28944238|PMID:29212164|PMID:29245953|PMID:29641532|PMID:29868112|PMID:30358836|PMID:30573798|PMID:30719162|PMID:30740464|PMID:31054147|PMID:31127692|PMID:31160353|PMID:31243857|PMID:31371350|PMID:31589614|PMID:31627758|PMID:31911633|PMID:32008151|PMID:32091409|PMID:32365829|PMID:32619037|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32973888|PMID:33007869|PMID:33193653|PMID:33332384|PMID:33606809|PMID:34250384|PMID:34308366|PMID:34404389|PMID:34608827|PMID:34767783|PMID:34994648|PMID:36419139|PMID:36652909|PMID:37402566|PMID:8782829|PMID:8838312|PMID:9536098 8729622 Msh3 mutS homolog 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8729622 Msh3 mutS homolog 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353031 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144|PMID:28492532 8729650 Tgfbi transforming growth factor beta induced gene DOID:0060441 epithelial-stromal TGFBI dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epithelial-stromal TGFBI dystrophy PMID:10798644|PMID:11923233|PMID:23559853|PMID:25741868|PMID:28492532|PMID:9054935|PMID:9463327|PMID:9559741 8729650 Tgfbi transforming growth factor beta induced gene DOID:0060444 granular corneal dystrophy 2 ISO RGD:1351420 D RGD:7240710 20180130 OMIM 8729650 Tgfbi transforming growth factor beta induced gene DOID:0060444 granular corneal dystrophy 2 ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Avellino corneal dystrophy | ClinVar Annotator: match by term: Granular corneal dystrophy type 2 PMID:10798644|PMID:11923233|PMID:15059726|PMID:16606891|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:34097874|PMID:9054935|PMID:9780098|PMID:9930165 8729650 Tgfbi transforming growth factor beta induced gene DOID:0060447 epithelial basement membrane dystrophy ISO RGD:1351420 D RGD:7240710 20180130 OMIM 8729650 Tgfbi transforming growth factor beta induced gene DOID:0060447 epithelial basement membrane dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epithelial basement membrane dystrophy PMID:16652336|PMID:19337156|PMID:25525159|PMID:28492532 8729650 Tgfbi transforming growth factor beta induced gene DOID:0060453 Reis-Bucklers corneal dystrophy ISO RGD:1351420 D RGD:7240710 20180130 OMIM 8729650 Tgfbi transforming growth factor beta induced gene DOID:0060453 Reis-Bucklers corneal dystrophy ISO RGD:1351420 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GRANULAR CORNEAL DYSTROPHY, TYPE III | ClinVar Annotator: match by term: Reis Bucklers dystrophy PMID:10660331|PMID:10798644|PMID:11146721|PMID:11923233|PMID:15885785|PMID:16606891|PMID:23559853|PMID:25741868|PMID:28492532|PMID:9780098|PMID:9930165 8729650 Tgfbi transforming growth factor beta induced gene DOID:0060455 Thiel-Behnke corneal dystrophy ISO RGD:1351420 D RGD:7240710 20180130 OMIM 8729650 Tgfbi transforming growth factor beta induced gene DOID:0060455 Thiel-Behnke corneal dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy PMID:11923233|PMID:21135107|PMID:22355247|PMID:25741868|PMID:28492532|PMID:9054935|PMID:9780098 8729650 Tgfbi transforming growth factor beta induced gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351420 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8729650 Tgfbi transforming growth factor beta induced gene DOID:0080530 granular corneal dystrophy 1 ISO RGD:1351420 D RGD:7240710 20180130 OMIM 8729650 Tgfbi transforming growth factor beta induced gene DOID:0080530 granular corneal dystrophy 1 ISO RGD:1351420 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Groenouw corneal dystrophy type I PMID:11923233|PMID:1264234|PMID:21135107|PMID:21264234|PMID:22355247|PMID:23559853|PMID:25741868|PMID:28492532|PMID:9054935|PMID:9727509 8729650 Tgfbi transforming growth factor beta induced gene DOID:12318 granular corneal dystrophy ISO RGD:1351420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granular corneal dystrophy 8729650 Tgfbi transforming growth factor beta induced gene DOID:2566 corneal dystrophy ISO RGD:1351420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Dominant | ClinVar Annotator: match by term: Corneal dystrophy PMID:10832717|PMID:11004271|PMID:11024425|PMID:11923233|PMID:12400061|PMID:15177960|PMID:16652336|PMID:16670477|PMID:16809844|PMID:19303004|PMID:19337156|PMID:21462384|PMID:21617751|PMID:21744490|PMID:23884333|PMID:24406863|PMID:24940934|PMID:25284770|PMID:25525159|PMID:25741868|PMID:25932442|PMID:26748743|PMID:26961680|PMID:28492532|PMID:9497262 8729650 Tgfbi transforming growth factor beta induced gene DOID:557 kidney disease ISO RGD:620017 D RGD:9068941 20200609 RGD chronic cyclosporin A-induced nephropathy PMID:16308546|REF_RGD_ID:1599389 8729650 Tgfbi transforming growth factor beta induced gene DOID:630 genetic disease ISO RGD:1351420 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8729650 Tgfbi transforming growth factor beta induced gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491 8729650 Tgfbi transforming growth factor beta induced gene DOID:9002165 Diabetic Nephropathies ISO RGD:620017 D RGD:9068941 20200609 RGD PMID:12911551|REF_RGD_ID:1304421 8729650 Tgfbi transforming growth factor beta induced gene DOID:9003281 Spontaneous Abortions ISO RGD:1351420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8729650 Tgfbi transforming growth factor beta induced gene DOID:9004303 Tubulointerstitial Fibrosis ISO RGD:620017 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:15007308|REF_RGD_ID:1304308 8729650 Tgfbi transforming growth factor beta induced gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8729650 Tgfbi transforming growth factor beta induced gene DOID:9004484 Sepsis ISO RGD:1351420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27887929 8729650 Tgfbi transforming growth factor beta induced gene DOID:9006242 Lattice Corneal Dystrophy, Type IIIA ISO RGD:1351420 D RGD:7240710 20180130 OMIM 8729650 Tgfbi transforming growth factor beta induced gene DOID:9006242 Lattice Corneal Dystrophy, Type IIIA ISO RGD:1351420 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, lattice type 3A PMID:10832717|PMID:11004271|PMID:11024425|PMID:11923233|PMID:12400061|PMID:1264234|PMID:15790870|PMID:16809844|PMID:19337156|PMID:21135107|PMID:21264234|PMID:21462384|PMID:22355247|PMID:23559853|PMID:23884333|PMID:25741868|PMID:26748743|PMID:28492532|PMID:9054935|PMID:9497262|PMID:9727509 8729650 Tgfbi transforming growth factor beta induced gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351420 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8729650 Tgfbi transforming growth factor beta induced gene DOID:9008869 Lattice Corneal Dystrophy Type 1 ISO RGD:1351420 D RGD:7240710 20180130 OMIM 8729650 Tgfbi transforming growth factor beta induced gene DOID:9008869 Lattice Corneal Dystrophy Type 1 ISO RGD:1351420 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lattice corneal dystrophy Type I PMID:10798644|PMID:11923233|PMID:1264234|PMID:15059726|PMID:21135107|PMID:21264234|PMID:22355247|PMID:23559853|PMID:25741868|PMID:26197481|PMID:28492532|PMID:34097874|PMID:9054935|PMID:9463327|PMID:9559741|PMID:9727509 8729671 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733321 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11835386|PMID:15776425|PMID:16199547|PMID:16807905|PMID:17576681|PMID:18263758|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26285592|PMID:28492532|PMID:31882561|PMID:32865661|PMID:33334879|PMID:34663487|PMID:9536098 8729671 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:0070367 leukoencephalopathy with vanishing white matter 5 ISO RGD:733321 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cree leukoencephalopathy PMID:11835386|PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8729671 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:0070374 leukoencephalopathy with vanishing white matter 1 ISO RGD:733321 D RGD:7240710 20230505 OMIM 8729671 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:0070374 leukoencephalopathy with vanishing white matter 1 ISO RGD:733321 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 PMID:25741868 8729671 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:0110980 Joubert syndrome 1 ISO RGD:733321 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8729671 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:10907 microcephaly ISO RGD:733321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8729671 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:11832 visual epilepsy ISO RGD:733321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures 8729671 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:1826 epilepsy ISO RGD:733321 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8729671 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:733321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8729671 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:630 genetic disease ISO RGD:733321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8729671 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9002704 Leukoencephalopathies ISO RGD:733321 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11835386|PMID:15776425|PMID:16199547|PMID:16807905|PMID:17576681|PMID:18263758|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26285592|PMID:28492532|PMID:31882561|PMID:32865661|PMID:33334879|PMID:34663487|PMID:9536098 8729671 Eif2b1 eukaryotic translation initiation factor 2B subunit alpha gene DOID:9006205 Animal Disease Models ISO RGD:733321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8729687 Borcs5 BLOC-1 related complex subunit 5 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1316927 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs3803098) A>G (human) PMID:27354594|REF_RGD_ID:152177496 8729687 Borcs5 BLOC-1 related complex subunit 5 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1316927 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8729687 Borcs5 BLOC-1 related complex subunit 5 gene DOID:630 genetic disease ISO RGD:1316927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729687 Borcs5 BLOC-1 related complex subunit 5 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of 8729703 Fignl2 fidgetin like 2 gene DOID:630 genetic disease ISO RGD:1603328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729703 Fignl2 fidgetin like 2 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1603328 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 8729710 Fgf19 fibroblast growth factor 19 gene DOID:0060180 colitis ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27580383 8729710 Fgf19 fibroblast growth factor 19 gene DOID:1059 intellectual disability ISO RGD:1344909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8729710 Fgf19 fibroblast growth factor 19 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:620166 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8729710 Fgf19 fibroblast growth factor 19 gene DOID:5082 liver cirrhosis ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 8729710 Fgf19 fibroblast growth factor 19 gene DOID:630 genetic disease ISO RGD:1344909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729710 Fgf19 fibroblast growth factor 19 gene DOID:684 hepatocellular carcinoma ISO RGD:1344909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 8729710 Fgf19 fibroblast growth factor 19 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1344909 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8729710 Fgf19 fibroblast growth factor 19 gene DOID:9004250 Hepatic Insufficiency ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 8729710 Fgf19 fibroblast growth factor 19 gene DOID:9005749 Necrosis ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24699334 8729710 Fgf19 fibroblast growth factor 19 gene DOID:9006646 Metabolic Syndrome ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 8729710 Fgf19 fibroblast growth factor 19 gene DOID:9007692 Insulin Resistance ISO RGD:1550725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28673684 8729710 Fgf19 fibroblast growth factor 19 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1344909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8729716 Cdh8 cadherin 8 gene DOID:630 genetic disease ISO RGD:735375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729739 Reep1 receptor accessory protein 1 gene DOID:0060224 atrial fibrillation ISO RGD:1313134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8729739 Reep1 receptor accessory protein 1 gene DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 ISO RGD:1313134 D RGD:7240710 20220921 OMIM 8729739 Reep1 receptor accessory protein 1 gene DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 ISO RGD:1313134 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 6 PMID:21618648|PMID:25741868|PMID:31872057|PMID:34193129 8729739 Reep1 receptor accessory protein 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1313134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 8729739 Reep1 receptor accessory protein 1 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1313134 D RGD:7240710 20180130 OMIM 8729739 Reep1 receptor accessory protein 1 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1313134 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:16199547|PMID:16826527|PMID:17576681|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:21618648|PMID:22062632|PMID:22703882|PMID:23108492|PMID:23400676|PMID:23812641|PMID:24098485|PMID:24451228|PMID:24478229|PMID:24604904|PMID:24986827|PMID:25025039|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26201691|PMID:26374131|PMID:26467025|PMID:26671083|PMID:27066569|PMID:27260292|PMID:28362824|PMID:28492532|PMID:29124833|PMID:29629531|PMID:30373780|PMID:30564185|PMID:30637453|PMID:31872057|PMID:32501971|PMID:32581362|PMID:32655478|PMID:9536098 8729739 Reep1 receptor accessory protein 1 gene DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 ISO RGD:1313134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8729739 Reep1 receptor accessory protein 1 gene DOID:0111205 autosomal dominant distal hereditary motor neuronopathy 12 ISO RGD:1313134 D RGD:7240710 20180130 OMIM 8729739 Reep1 receptor accessory protein 1 gene DOID:0111205 autosomal dominant distal hereditary motor neuronopathy 12 ISO RGD:1313134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B PMID:16826527|PMID:18321925|PMID:18644145|PMID:19034539|PMID:20718791|PMID:22703882|PMID:24478229|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34193129 8729739 Reep1 receptor accessory protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1313134 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:22703882|PMID:24604904|PMID:25025039|PMID:25741868|PMID:28492532 8729739 Reep1 receptor accessory protein 1 gene DOID:1389 polyneuropathy ISO RGD:1313134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 8729739 Reep1 receptor accessory protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313134 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:16199547|PMID:16826527|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:22703882|PMID:23400676|PMID:23812641|PMID:24098485|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29629531|PMID:30637453|PMID:32581362 8729739 Reep1 receptor accessory protein 1 gene DOID:607 paraplegia ISO RGD:1313134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:16826527|PMID:18321925|PMID:18644145|PMID:20718791|PMID:22703882|PMID:23812641|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:27066569|PMID:28492532|PMID:29124833|PMID:30564185|PMID:31872057|PMID:32581362 8729739 Reep1 receptor accessory protein 1 gene DOID:630 genetic disease ISO RGD:1313134 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16826527|PMID:18321925|PMID:19034539|PMID:20718791|PMID:24051375|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28362824|PMID:28492532|PMID:30373780 8729739 Reep1 receptor accessory protein 1 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1313134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 8729739 Reep1 receptor accessory protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:1313134 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25025039|PMID:25741868 8729790 Plpp7 phospholipid phosphatase 7 (inactive) gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8729790 Plpp7 phospholipid phosphatase 7 (inactive) gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1314085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 8729790 Plpp7 phospholipid phosphatase 7 (inactive) gene DOID:630 genetic disease ISO RGD:1314085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729841 Ppp2r2d protein phosphatase 2 regulatory subunit Bdelta gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1351294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8729841 Ppp2r2d protein phosphatase 2 regulatory subunit Bdelta gene DOID:630 genetic disease ISO RGD:1351294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729857 Gnb5 G protein subunit beta 5 gene DOID:0081008 intellectual developmental disorder with cardiac arrhythmia ISO RGD:731985 D RGD:7240710 20190315 OMIM 8729857 Gnb5 G protein subunit beta 5 gene DOID:0081008 intellectual developmental disorder with cardiac arrhythmia ISO RGD:731985 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Gnb5-related intellectual disability-cardiac arrhythmia syndrome | ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac arrhythmia PMID:21766168|PMID:25741868|PMID:25741873|PMID:27523599|PMID:27677260|PMID:28492532|PMID:28697420|PMID:29368331|PMID:30631341|PMID:31130284|PMID:31631344|PMID:31720979|PMID:32203251|PMID:32280589|PMID:32987464|PMID:33172956|PMID:33176815 8729857 Gnb5 G protein subunit beta 5 gene DOID:0111406 Fraser syndrome 3 ISO RGD:731985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 8729857 Gnb5 G protein subunit beta 5 gene DOID:2717 Bloom syndrome ISO RGD:731985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8729857 Gnb5 G protein subunit beta 5 gene DOID:607 paraplegia ISO RGD:731985 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 8729857 Gnb5 G protein subunit beta 5 gene DOID:630 genetic disease ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21766168|PMID:25741868|PMID:27523599|PMID:27677260|PMID:28492532|PMID:30631341|PMID:31130284|PMID:31631344|PMID:33172956|PMID:33176815 8729857 Gnb5 G protein subunit beta 5 gene DOID:9000267 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA ISO RGD:731985 D RGD:7240710 20190315 OMIM 8729857 Gnb5 G protein subunit beta 5 gene DOID:9000267 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA ISO RGD:731985 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia PMID:25741868|PMID:27523599|PMID:27677260|PMID:29368331|PMID:30631341|PMID:31130284|PMID:33176815 8729857 Gnb5 G protein subunit beta 5 gene DOID:9008086 Developmental Disabilities ISO RGD:731985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741873|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33172956|PMID:33176815 8729857 Gnb5 G protein subunit beta 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8729857 Gnb5 G protein subunit beta 5 gene DOID:9256 colorectal cancer ISO RGD:731985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8729885 Myoz2 myozenin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1316992 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17434779|PMID:19472918|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31110529|PMID:31513939|PMID:31534214 8729885 Myoz2 myozenin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 8729885 Myoz2 myozenin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1316992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532 8729885 Myoz2 myozenin 2 gene DOID:0110322 hypertrophic cardiomyopathy 16 ISO RGD:1316992 D RGD:7240710 20180130 OMIM 8729885 Myoz2 myozenin 2 gene DOID:0110322 hypertrophic cardiomyopathy 16 ISO RGD:1316992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 | ClinVar Annotator: match by term: MYOZ2-related condition PMID:17347475|PMID:17434779|PMID:19472918|PMID:21520333|PMID:21681106|PMID:22987565|PMID:23310962|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:31110529|PMID:31513939|PMID:31534214 8729885 Myoz2 myozenin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16199547|PMID:17347475|PMID:17434779|PMID:17576681|PMID:19472918|PMID:21520333|PMID:22310962|PMID:22987565|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27066507|PMID:27341347|PMID:27532257|PMID:27600940|PMID:27788187|PMID:28492532|PMID:28798025|PMID:31110529|PMID:31513939|PMID:31534214|PMID:9536098 8729885 Myoz2 myozenin 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1316992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8729885 Myoz2 myozenin 2 gene DOID:630 genetic disease ISO RGD:1316992 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8729885 Myoz2 myozenin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8729907 Xrcc5 X-ray repair cross complementing 5 gene DOID:1749 squamous cell carcinoma ISO RGD:733855 D RGD:9068941 20200609 RGD protein:increased expression:epidermal cell, squamous cell of epidermis (human) PMID:16497868|REF_RGD_ID:8698657 8729907 Xrcc5 X-ray repair cross complementing 5 gene DOID:1993 rectum cancer susceptibility ISO RGD:733855 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs1051677) (human) PMID:26735576|REF_RGD_ID:151361212 8729907 Xrcc5 X-ray repair cross complementing 5 gene DOID:2513 basal cell carcinoma ISO RGD:733855 D RGD:9068941 20200609 RGD protein:increased expression:epidermal cell, basal cell of epidermis (human) PMID:16497868|REF_RGD_ID:8698657 8729907 Xrcc5 X-ray repair cross complementing 5 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:733855 D RGD:9068941 20200609 RGD DNA:SNPs:multiple (human) PMID:20463177|REF_RGD_ID:8698653 8729907 Xrcc5 X-ray repair cross complementing 5 gene DOID:3910 lung adenocarcinoma ISO RGD:733855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8729907 Xrcc5 X-ray repair cross complementing 5 gene DOID:630 genetic disease ISO RGD:733855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729907 Xrcc5 X-ray repair cross complementing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8729907 Xrcc5 X-ray repair cross complementing 5 gene DOID:9006205 Animal Disease Models ISO RGD:733855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8729907 Xrcc5 X-ray repair cross complementing 5 gene DOID:9538 multiple myeloma susceptibility ISO RGD:733855 D RGD:9068941 20200609 RGD DNA:SNP:3'-UTR (human) PMID:17901044|REF_RGD_ID:8698655 8729936 Cercam cerebral endothelial cell adhesion molecule gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8729936 Cercam cerebral endothelial cell adhesion molecule gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8729936 Cercam cerebral endothelial cell adhesion molecule gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8729936 Cercam cerebral endothelial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1312417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729976 Serinc1 serine incorporator 1 gene DOID:1826 epilepsy ISO RGD:1349070 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8729976 Serinc1 serine incorporator 1 gene DOID:630 genetic disease ISO RGD:1349070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0060041 autism spectrum disorder ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736139 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0080447 developmental and epileptic encephalopathy 43 ISO RGD:736139 D RGD:7240710 20240313 OMIM 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0080447 developmental and epileptic encephalopathy 43 ISO RGD:736139 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43 PMID:11742254|PMID:12189488|PMID:23934111|PMID:25741868|PMID:26467025|PMID:26645412|PMID:26950270|PMID:26993267|PMID:27476654|PMID:27622563|PMID:28053010|PMID:28492532|PMID:33287870|PMID:33585817|PMID:34782754 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1059 intellectual disability ISO RGD:736139 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26950270|PMID:28053010|PMID:28492532|PMID:28544625 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:11983 Prader-Willi syndrome ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:12849 autistic disorder ISO RGD:736139 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1825 childhood absence epilepsy ISO RGD:736139 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:18514161 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1825 childhood absence epilepsy ISO RGD:736139 D RGD:9068941 20221103 RGD DNA:SNPs PMID:16835263|REF_RGD_ID:1601269 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1826 epilepsy ISO RGD:736139 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:20550555|PMID:25741868|PMID:26467025|PMID:28492532 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:1932 Angelman syndrome ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:2661 myoepithelioma ISO RGD:736139 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:5419 schizophrenia ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:630 genetic disease ISO RGD:736139 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18514161|PMID:19935738|PMID:20550555|PMID:23934111|PMID:24909990|PMID:24999380|PMID:25726841|PMID:25741868|PMID:25849321|PMID:26467025|PMID:26645412|PMID:26845707|PMID:26950270|PMID:26993267|PMID:28492532|PMID:28607477|PMID:29162865|PMID:34698933|PMID:8382702|PMID:9536098 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9000998 Brain Injuries ISO RGD:736139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9001793 Generalized Epilepsy ISO RGD:736139 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:27864847|PMID:28492532|PMID:30185235|PMID:32581362|PMID:34698933|PMID:35383156 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insomnia PMID:11742254|PMID:12189488|PMID:25741868|PMID:28492532 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9004864 Isodicentric Chromosome 15 Syndrome ISO RGD:736139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23663378 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9006141 Childhood Absence Epilepsy 5 ISO RGD:736139 D RGD:7240710 20240313 OMIM 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9006141 Childhood Absence Epilepsy 5 ISO RGD:736139 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5 PMID:18514161|PMID:19935738|PMID:20550555|PMID:22303015|PMID:23934111|PMID:24088041|PMID:25726841|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26845707|PMID:26950270|PMID:27476654|PMID:28053010|PMID:28492532|PMID:35383156 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9007 sudden infant death syndrome ISO RGD:736139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:11742254|PMID:12189488|PMID:25741868|PMID:28492532 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9008086 Developmental Disabilities ISO RGD:736139 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18514161|PMID:22303015|PMID:25741868|PMID:28492532|PMID:35383156 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 8729995 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:736139 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 1 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:11742254|PMID:12189488|PMID:16199547|PMID:17576681|PMID:18514161|PMID:19935738|PMID:20550555|PMID:22303015|PMID:23495136|PMID:23934111|PMID:24909990|PMID:24999380|PMID:25533962|PMID:25726841|PMID:25741868|PMID:25849321|PMID:26068938|PMID:26467025|PMID:26645412|PMID:26704558|PMID:26845707|PMID:26950270|PMID:26993267|PMID:27476654|PMID:27622563|PMID:27864847|PMID:28053010|PMID:2828157|PMID:28281572|PMID:28492532|PMID:28544625|PMID:28607477|PMID:29162865|PMID:29852413|PMID:29961870|PMID:30185235|PMID:30728247|PMID:31164858|PMID:31435640|PMID:33287870|PMID:33585817|PMID:34698933|PMID:34782754|PMID:34906499|PMID:35383156|PMID:35718920|PMID:8382702|PMID:9536098 8730005 Myl2 myosin light chain 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029 8730005 Myl2 myosin light chain 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:737270 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029|PMID:35629155 8730005 Myl2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28771489|PMID:28798025|PMID:29099038|PMID:29398688|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30297972|PMID:30403391|PMID:30430732|PMID:31019283|PMID:31127036|PMID:32453731|PMID:33731536|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 8730005 Myl2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26664906|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28771489|PMID:28798025|PMID:29099038|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30403391|PMID:30430732|PMID:30847666|PMID:31019283|PMID:31127036|PMID:31513939|PMID:31737537|PMID:31980526|PMID:32453731|PMID:32665702|PMID:32880476|PMID:33087929|PMID:33548158|PMID:33673806|PMID:33731536|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 8730005 Myl2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33337957|PMID:33495597|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:34935411|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 8730005 Myl2 myosin light chain 2 gene DOID:0050700 cardiomyopathy ISO RGD:737270 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:203862|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30453078|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31315475|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:33732734|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35050212|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35993536|PMID:36264615|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9724616 8730005 Myl2 myosin light chain 2 gene DOID:0080102 congenital myopathy 4A ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:25741868|PMID:28855170|PMID:32453731|PMID:32600061|PMID:33731536 8730005 Myl2 myosin light chain 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105|PMID:9535554 8730005 Myl2 myosin light chain 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737270 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31315475|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33732734|PMID:34935411|PMID:35026164|PMID:35993536|PMID:8673105|PMID:9535554 8730005 Myl2 myosin light chain 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28166811|PMID:28223422|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30403391|PMID:30430732|PMID:31019283|PMID:8673105|PMID:9535554 8730005 Myl2 myosin light chain 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737270 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:08673105|PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16837010|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21723297|PMID:21835320|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23396983|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:24842367|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28223422|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28750076|PMID:28771489|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:31019283|PMID:31104103|PMID:31315475|PMID:31323898|PMID:31771554|PMID:31847883|PMID:32746448|PMID:33190526|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33558530|PMID:33732734|PMID:34935411|PMID:35026164|PMID:35993536|PMID:8673105|PMID:9535554 8730005 Myl2 myosin light chain 2 gene DOID:0110316 hypertrophic cardiomyopathy 10 ISO RGD:737270 D RGD:7240710 20180130 OMIM 8730005 Myl2 myosin light chain 2 gene DOID:0110316 hypertrophic cardiomyopathy 10 ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:18987303|PMID:19150977|PMID:20173211|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21520333|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24374283|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25031304|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29247119|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:31983221|PMID:32453731|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33495597|PMID:33500567|PMID:33548158|PMID:33558530|PMID:33673806|PMID:33731536|PMID:33891674|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 8730005 Myl2 myosin light chain 2 gene DOID:0110316 hypertrophic cardiomyopathy 10 ISO RGD:737270 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 10 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16199547|PMID:16751284|PMID:16837010|PMID:17576681|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:18987303|PMID:19150977|PMID:20173211|PMID:203862|PMID:20855589|PMID:21310275|PMID:21415409|PMID:21520333|PMID:21723297|PMID:21823217|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22260945|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24374283|PMID:24793961|PMID:24842367|PMID:24992035|PMID:25031304|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25770245|PMID:26116789|PMID:26187847|PMID:26284228|PMID:26385864|PMID:26497160|PMID:26656175|PMID:26664906|PMID:26906074|PMID:26914223|PMID:26936621|PMID:27153395|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28323875|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28611029|PMID:28640247|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28855170|PMID:28991257|PMID:29099038|PMID:29247119|PMID:29253866|PMID:29398688|PMID:29447731|PMID:29452157|PMID:29710196|PMID:29988065|PMID:30291343|PMID:30297972|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30453078|PMID:30588760|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31019283|PMID:31104103|PMID:31127036|PMID:31315475|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31771554|PMID:31847883|PMID:31980526|PMID:31983221|PMID:32453731|PMID:32600061|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33087929|PMID:33190526|PMID:33297573|PMID:33337957|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33548158|PMID:33558530|PMID:33662488|PMID:33673806|PMID:33731536|PMID:33732734|PMID:33891674|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35050212|PMID:35626289|PMID:35629155|PMID:35653365|PMID:35993536|PMID:36264615|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982|PMID:9724616 8730005 Myl2 myosin light chain 2 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:737270 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:18533079|PMID:20173211|PMID:21310275|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23396983|PMID:24033266|PMID:24055113|PMID:24111713|PMID:25524337|PMID:25637381|PMID:25741868|PMID:27483260|PMID:27600940|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29253866|PMID:30403391|PMID:31019283|PMID:31323898|PMID:31771554|PMID:33495596|PMID:33495597|PMID:33732734|PMID:34935411|PMID:35026164 8730005 Myl2 myosin light chain 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737270 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:08673105|PMID:09535554|PMID:10948063|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:12818575|PMID:14594949|PMID:15483641|PMID:15706574|PMID:16076902|PMID:16751284|PMID:16837010|PMID:17606808|PMID:18506004|PMID:18533079|PMID:18929571|PMID:19150977|PMID:20173211|PMID:203862|PMID:20855589|PMID:21310275|PMID:21723297|PMID:21835320|PMID:21896538|PMID:22091967|PMID:22797899|PMID:22958901|PMID:23197161|PMID:23283745|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23396983|PMID:23549607|PMID:23727233|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24793961|PMID:25132132|PMID:25324513|PMID:25333069|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26187847|PMID:26497160|PMID:26664906|PMID:26906074|PMID:26914223|PMID:27153395|PMID:27435932|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28223422|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28855170|PMID:28991257|PMID:29253866|PMID:29398688|PMID:29452157|PMID:29710196|PMID:30365366|PMID:30403391|PMID:30430732|PMID:30706179|PMID:30775854|PMID:30796699|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31104103|PMID:31323898|PMID:31513939|PMID:31771554|PMID:32453731|PMID:32665702|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33190526|PMID:33495596|PMID:33495597|PMID:33548158|PMID:33662488|PMID:33673806|PMID:33732734|PMID:34935411|PMID:35026164|PMID:35050212|PMID:35653365|PMID:8673105|PMID:9535554|PMID:9724616 8730005 Myl2 myosin light chain 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18533079|PMID:20173211|PMID:21310275|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23396983|PMID:24033266|PMID:24055113|PMID:24111713|PMID:25524337|PMID:25637381|PMID:25741868|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28855170|PMID:29253866|PMID:30403391|PMID:31019283|PMID:31323898|PMID:31771554 8730005 Myl2 myosin light chain 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:737270 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18533079|PMID:20173211|PMID:21310275|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23396983|PMID:24033266|PMID:24055113|PMID:24111713|PMID:25524337|PMID:25637381|PMID:25741868|PMID:27483260|PMID:27532257|PMID:27600940|PMID:28492532|PMID:28750076|PMID:28771489|PMID:28855170|PMID:29253866|PMID:30403391|PMID:31019283|PMID:31323898|PMID:31771554|PMID:33495596|PMID:33495597|PMID:33732734|PMID:34935411|PMID:35026164 8730005 Myl2 myosin light chain 2 gene DOID:1682 congenital heart disease ISO RGD:737270 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:25741868|PMID:28492532|PMID:35993536 8730005 Myl2 myosin light chain 2 gene DOID:422 congenital structural myopathy ISO RGD:737270 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28855170|PMID:32453731|PMID:32600061|PMID:33731536 8730005 Myl2 myosin light chain 2 gene DOID:6000 congestive heart failure ISO RGD:737270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:12404107|PMID:24033266|PMID:25741868|PMID:28492532 8730005 Myl2 myosin light chain 2 gene DOID:630 genetic disease ISO RGD:737270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11102452|PMID:12668451|PMID:14594949|PMID:25324513|PMID:25741868|PMID:28492532|PMID:9535554 8730005 Myl2 myosin light chain 2 gene DOID:9000543 Death ISO RGD:737270 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:08673105|PMID:10948063|PMID:11102452|PMID:12404107|PMID:12668451|PMID:14594949|PMID:16076902|PMID:16751284|PMID:17606808|PMID:203862|PMID:21310275|PMID:21896538|PMID:24033266|PMID:25324513|PMID:25351510|PMID:25741868|PMID:26497160|PMID:27435932|PMID:27532257|PMID:28138913|PMID:28166811|PMID:28492532|PMID:28771489|PMID:30706179|PMID:30847666|PMID:31513939|PMID:32665702|PMID:32880476|PMID:33087929|PMID:33548158|PMID:33662488|PMID:33673806|PMID:35050212|PMID:35653365|PMID:8673105|PMID:9724616 8730005 Myl2 myosin light chain 2 gene DOID:9003320 Myofibrillar Myopathy 12 ISO RGD:737270 D RGD:7240710 20210818 OMIM 8730005 Myl2 myosin light chain 2 gene DOID:9003320 Myofibrillar Myopathy 12 ISO RGD:737270 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy PMID:09535554|PMID:11102452|PMID:11748309|PMID:12404107|PMID:12668451|PMID:12707239|PMID:14594949|PMID:15483641|PMID:16837010|PMID:17576681|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22260945|PMID:22958901|PMID:23299917|PMID:23343568|PMID:23365102|PMID:23861362|PMID:24033266|PMID:24111713|PMID:24842367|PMID:25324513|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:26936621|PMID:27378946|PMID:27435932|PMID:27476098|PMID:27532257|PMID:28356264|PMID:28467684|PMID:28492532|PMID:28518168|PMID:28640247|PMID:28855170|PMID:29447731|PMID:30291343|PMID:30847666|PMID:31315475|PMID:31847883|PMID:31980526|PMID:32453731|PMID:32600061|PMID:32665702|PMID:33337957|PMID:33558530|PMID:33662488|PMID:33731536|PMID:34935411|PMID:35026164|PMID:8673105|PMID:9535554|PMID:9536098|PMID:9673982 8730005 Myl2 myosin light chain 2 gene DOID:9006030 Infant Death ISO RGD:737270 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:11102452|PMID:11748309|PMID:12668451|PMID:14594949|PMID:15483641|PMID:16837010|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22958901|PMID:23299917|PMID:23343568|PMID:24033266|PMID:24111713|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27435932|PMID:28467684|PMID:28492532|PMID:28518168|PMID:31315475|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105 8730005 Myl2 myosin light chain 2 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:737270 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:11102452|PMID:11748309|PMID:12668451|PMID:14594949|PMID:15483641|PMID:16837010|PMID:18929571|PMID:19150977|PMID:20855589|PMID:21415409|PMID:22958901|PMID:23299917|PMID:23343568|PMID:24033266|PMID:24111713|PMID:24842367|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26116789|PMID:26284228|PMID:27435932|PMID:28467684|PMID:28492532|PMID:28518168|PMID:31315475|PMID:33337957|PMID:33558530|PMID:34935411|PMID:8673105 8730016 Spaca3 sperm acrosome associated 3 gene DOID:630 genetic disease ISO RGD:1315441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730030 Sh2d6 SH2 domain containing 6 gene DOID:630 genetic disease ISO RGD:1606407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730047 Pdia2 protein disulfide isomerase family A member 2 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1313029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve 8730047 Pdia2 protein disulfide isomerase family A member 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1313029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8730047 Pdia2 protein disulfide isomerase family A member 2 gene DOID:1826 epilepsy ISO RGD:1313029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 8730047 Pdia2 protein disulfide isomerase family A member 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1313029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8730047 Pdia2 protein disulfide isomerase family A member 2 gene DOID:630 genetic disease ISO RGD:1313029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730064 Kdm6b lysine demethylase 6B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8730064 Kdm6b lysine demethylase 6B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8730064 Kdm6b lysine demethylase 6B gene DOID:1059 intellectual disability ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8730064 Kdm6b lysine demethylase 6B gene DOID:12177 common variable immunodeficiency ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8730064 Kdm6b lysine demethylase 6B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316934 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8730064 Kdm6b lysine demethylase 6B gene DOID:1826 epilepsy ISO RGD:1316934 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8730064 Kdm6b lysine demethylase 6B gene DOID:2729 dyskeratosis congenita ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8730064 Kdm6b lysine demethylase 6B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1316934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8730064 Kdm6b lysine demethylase 6B gene DOID:3459 breast carcinoma ISO RGD:1316934 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:23152497|REF_RGD_ID:9587818 8730064 Kdm6b lysine demethylase 6B gene DOID:4450 renal cell carcinoma ISO RGD:1316934 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:23057811|REF_RGD_ID:9587837 8730064 Kdm6b lysine demethylase 6B gene DOID:630 genetic disease ISO RGD:1316934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8730064 Kdm6b lysine demethylase 6B gene DOID:9000039 Spinal Cord Injuries ISO RGD:1307629 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:22578249|REF_RGD_ID:9587821 8730064 Kdm6b lysine demethylase 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8730064 Kdm6b lysine demethylase 6B gene DOID:9007117 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities ISO RGD:1316934 D RGD:7240710 20190821 OMIM 8730064 Kdm6b lysine demethylase 6B gene DOID:9007117 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities ISO RGD:1316934 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: KDM6B-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities PMID:25741868|PMID:28492532|PMID:31124279|PMID:37196654 8730064 Kdm6b lysine demethylase 6B gene DOID:9008582 Developmental Disease ISO RGD:1316934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8730064 Kdm6b lysine demethylase 6B gene DOID:962 neurofibroma ISO RGD:1316935 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:sciatic nerve (mouse) PMID:23748155|REF_RGD_ID:9587842 8730094 Mstn myostatin gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:736334 D RGD:7240710 20180822 OMIM 8730094 Mstn myostatin gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:736334 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy PMID:10610713|PMID:11555072|PMID:15215484|PMID:19232494|PMID:20301671|PMID:21283721|PMID:24479661|PMID:28492532 8730094 Mstn myostatin gene DOID:0111944 immunodeficiency 31B ISO RGD:736334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 8730094 Mstn myostatin gene DOID:1459 hypothyroidism ISO RGD:3115 D RGD:9068941 20200609 RGD PMID:18997488|REF_RGD_ID:2303545 8730094 Mstn myostatin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:3115 D RGD:9068941 20200609 RGD PMID:16837207|REF_RGD_ID:2303556 8730094 Mstn myostatin gene DOID:341 peripheral vascular disease ISO RGD:3115 D RGD:9068941 20200609 RGD PMID:19125275|REF_RGD_ID:2303544 8730094 Mstn myostatin gene DOID:4676 uremia ISO RGD:3115 D RGD:9068941 20211126 RGD associated with Kidney Failure, Chronic PMID:16871256|REF_RGD_ID:2303558 8730094 Mstn myostatin gene DOID:5844 myocardial infarction ISO RGD:736335 D RGD:9068941 20230615 RGD mRNA:decreased expression:myocardium (mouse) PMID:32427381|REF_RGD_ID:329849118 8730094 Mstn myostatin gene DOID:6000 congestive heart failure ISO RGD:3115 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:16968467|REF_RGD_ID:2303554 8730094 Mstn myostatin gene DOID:6000 congestive heart failure ISO RGD:736334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968467 8730094 Mstn myostatin gene DOID:630 genetic disease ISO RGD:736334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730094 Mstn myostatin gene DOID:767 muscular atrophy ISO RGD:3115 D RGD:9068941 20200609 RGD associated with Addison's Disease PMID:15738643|REF_RGD_ID:2303596 8730094 Mstn myostatin gene DOID:767 muscular atrophy ISO RGD:3115 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:skeletal muscle PMID:15758361|REF_RGD_ID:2303594 8730094 Mstn myostatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8730094 Mstn myostatin gene DOID:9007346 Cachexia ISO RGD:3115 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle PMID:18578694|REF_RGD_ID:2303552 8730094 Mstn myostatin gene DOID:9007730 Burns ISO RGD:3115 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:11481237|REF_RGD_ID:2303598 8730094 Mstn myostatin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736335 D RGD:9068941 20230615 RGD mRNA, protein:increased expression:heart (mouse) PMID:30765322|REF_RGD_ID:329849112 8730108 Hif1an hypoxia inducible factor 1 subunit alpha inhibitor gene DOID:0090006 renal coloboma syndrome ISO RGD:1317966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal coloboma syndrome PMID:11461952|PMID:24676634|PMID:28492532 8730108 Hif1an hypoxia inducible factor 1 subunit alpha inhibitor gene DOID:630 genetic disease ISO RGD:1317966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730120 Nek3 NIMA related kinase 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8730120 Nek3 NIMA related kinase 3 gene DOID:1059 intellectual disability ISO RGD:1316605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8730120 Nek3 NIMA related kinase 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8730120 Nek3 NIMA related kinase 3 gene DOID:630 genetic disease ISO RGD:1316605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730164 Slc66a1 solute carrier family 66 member 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1323183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8730164 Slc66a1 solute carrier family 66 member 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1323183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8730164 Slc66a1 solute carrier family 66 member 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1323183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8730164 Slc66a1 solute carrier family 66 member 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1323183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8730164 Slc66a1 solute carrier family 66 member 1 gene DOID:630 genetic disease ISO RGD:1323183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730164 Slc66a1 solute carrier family 66 member 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1323183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1347158 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:0110034 X-linked Alport syndrome ISO RGD:1347158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:10283 prostate cancer ISO RGD:1347158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1347158 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17903305|REF_RGD_ID:2306127 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1347158 D RGD:9068941 20200609 RGD PMID:14664792|REF_RGD_ID:2306130 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1557852 D RGD:9068941 20200609 RGD PMID:15567863|PMID:9069289|REF_RGD_ID:1582314|REF_RGD_ID:1582669 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:2394 ovarian cancer ISO RGD:1347158 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1347158 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:630 genetic disease ISO RGD:1347158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:783 end stage renal disease ISO RGD:1347158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16998812 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1557852 D RGD:9068941 20200609 RGD PMID:17510407|REF_RGD_ID:2306128 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:9003023 Heart Rupture, Post-Infarction ISO RGD:1557852 D RGD:9068941 20200609 RGD PMID:17389263|REF_RGD_ID:2306129 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:9007102 Myocardial Ischemia disease_progression ISO RGD:1347158 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:17945237|REF_RGD_ID:2306126 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:9206 Barrett's esophagus ISO RGD:1347158 D RGD:7240710 20180130 OMIM 8730178 Msr1 macrophage scavenger receptor 1 gene DOID:9206 Barrett's esophagus ISO RGD:1347158 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma PMID:12244320|PMID:12958598|PMID:21791690|PMID:24082139|PMID:25333069|PMID:25741868|PMID:28492532 8730199 Nmb neuromedin B gene DOID:2717 Bloom syndrome ISO RGD:1315040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8730199 Nmb neuromedin B gene DOID:630 genetic disease ISO RGD:1315040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730199 Nmb neuromedin B gene DOID:9006202 Pruritus ISO RGD:1315040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669290 8730199 Nmb neuromedin B gene DOID:9256 colorectal cancer ISO RGD:1315040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8730199 Nmb neuromedin B gene DOID:9970 obesity ISO RGD:1315040 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:401G>A, silent mutation in stop codon, associated with body weight (p=0.02) PMID:11194934|REF_RGD_ID:1642062 8730199 Nmb neuromedin B gene DOID:9970 obesity ISO RGD:1562710 D RGD:9068941 20200609 RGD protein:increased expression:central hypothalamus:concentrations higher in obese (fa/fa) than in lean (Fa/?) male Zucker rats, not affected by weight loss PMID:1709601|REF_RGD_ID:1642063 8730199 Nmb neuromedin B gene DOID:9970 obesity susceptibility ISO RGD:1315040 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:217C>A, amino acid P73T, associated with disinhibition toward food (p=0.03), susceptibility to hunger (p=0.01) and increased percent body fat (p<0.05) PMID:15585758|REF_RGD_ID:1642059 8730210 Sltm SAFB like transcription modulator gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:27666822 8730210 Sltm SAFB like transcription modulator gene DOID:2717 Bloom syndrome ISO RGD:1605637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8730210 Sltm SAFB like transcription modulator gene DOID:630 genetic disease ISO RGD:1605637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730210 Sltm SAFB like transcription modulator gene DOID:9256 colorectal cancer ISO RGD:1605637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8730238 Ubfd1 ubiquitin family domain containing 1 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1606788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 8730238 Ubfd1 ubiquitin family domain containing 1 gene DOID:630 genetic disease ISO RGD:1606788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730238 Ubfd1 ubiquitin family domain containing 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17200668|PMID:17200671|PMID:19609323|PMID:28492532 8730248 Cotl1 coactosin like F-actin binding protein 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1313560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8730248 Cotl1 coactosin like F-actin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1313560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8730248 Cotl1 coactosin like F-actin binding protein 1 gene DOID:630 genetic disease ISO RGD:1313560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730248 Cotl1 coactosin like F-actin binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8730248 Cotl1 coactosin like F-actin binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1313560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8730256 Yipf2 Yip1 domain family member 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8730256 Yipf2 Yip1 domain family member 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8730256 Yipf2 Yip1 domain family member 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1604600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8730256 Yipf2 Yip1 domain family member 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:1604600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 8730256 Yipf2 Yip1 domain family member 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1604600 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8730256 Yipf2 Yip1 domain family member 2 gene DOID:630 genetic disease ISO RGD:1604600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730269 HAMP hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:736414 D RGD:9068941 20200609 RGD DNA:hypermethylation,hypomethylation:promoter PMID:29235098|REF_RGD_ID:15042879 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0050649 atransferrinemia treatment ISO RGD:1550218 D RGD:9068941 20200609 RGD PMID:20956801|REF_RGD_ID:11041615 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1550218 D RGD:9068941 20200609 RGD associated with iron overload;protein:increased expression:serum (human) PMID:29871592|REF_RGD_ID:15042878 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1550218 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28051796|REF_RGD_ID:15042880 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:70971 D RGD:9068941 20200609 RGD associated with iron overload;protein:increased expression:serum (human) PMID:29871592|REF_RGD_ID:15042878 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28051796|REF_RGD_ID:15042880 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:736414 D RGD:9068941 20200609 RGD associated with iron overload;protein:increased expression:serum (human) PMID:29871592|REF_RGD_ID:15042878 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:736414 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28051796|REF_RGD_ID:15042880 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0110222 Brugada syndrome 5 ISO RGD:736414 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0111027 hemochromatosis type 2A ISO RGD:736414 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of PMID:12915468|PMID:19214511|PMID:28492532 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0111029 hemochromatosis type 1 ISO RGD:736414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:12915468|PMID:17576681|PMID:19214511|PMID:28492532|PMID:9536098 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0111032 hemochromatosis type 2B ISO RGD:736414 D RGD:7240710 20180130 OMIM 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0111032 hemochromatosis type 2B ISO RGD:736414 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2B PMID:12469120|PMID:12915468|PMID:15082576|PMID:15099344|PMID:15198949|PMID:19214511|PMID:21088809|PMID:22297252|PMID:22924847|PMID:25326637|PMID:25741868|PMID:28492532|PMID:33016646 8730269 Hamp hepcidin antimicrobial peptide gene DOID:0111034 hemochromatosis type 2 ISO RGD:736414 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Juvenile hemochromatosis 8730269 Hamp hepcidin antimicrobial peptide gene DOID:11758 iron deficiency anemia ISO RGD:1550218 D RGD:9068941 20200609 RGD PMID:17218383|REF_RGD_ID:11041606 8730269 Hamp hepcidin antimicrobial peptide gene DOID:11758 iron deficiency anemia ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:22457245|REF_RGD_ID:11041634 8730269 Hamp hepcidin antimicrobial peptide gene DOID:12236 primary biliary cholangitis ISO RGD:736414 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19652645|REF_RGD_ID:11041639 8730269 Hamp hepcidin antimicrobial peptide gene DOID:12236 primary biliary cholangitis treatment ISO RGD:70971 D RGD:9068941 20200609 RGD PMID:23704825|REF_RGD_ID:11041732 8730269 Hamp hepcidin antimicrobial peptide gene DOID:12241 beta thalassemia ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 8730269 Hamp hepcidin antimicrobial peptide gene DOID:12241 beta thalassemia ISO RGD:736414 D RGD:9068941 20200609 RGD PMID:23905873|REF_RGD_ID:11041617 8730269 Hamp hepcidin antimicrobial peptide gene DOID:12241 beta thalassemia treatment ISO RGD:1550218 D RGD:9068941 20200609 RGD PMID:17299088|REF_RGD_ID:11041616 8730269 Hamp hepcidin antimicrobial peptide gene DOID:1340 pure red-cell aplasia ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25580431|REF_RGD_ID:11041717 8730269 Hamp hepcidin antimicrobial peptide gene DOID:13608 biliary atresia ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16627878 8730269 Hamp hepcidin antimicrobial peptide gene DOID:13619 extrahepatic cholestasis ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19652645|REF_RGD_ID:11041639 8730269 Hamp hepcidin antimicrobial peptide gene DOID:2352 hemochromatosis ISO RGD:736414 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:12915468|PMID:14630809|PMID:14670915|PMID:15024747|PMID:15082576|PMID:15099344|PMID:16141345|PMID:16199547|PMID:17576681|PMID:19214511|PMID:19787796|PMID:21088809|PMID:21411349|PMID:22297252|PMID:22924847|PMID:25326637|PMID:25741868|PMID:26310624|PMID:26547814|PMID:26799139|PMID:28492532|PMID:33016646|PMID:9536098 8730269 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:1550218 D RGD:9068941 20200609 RGD associated with Inflammation PMID:24357729|REF_RGD_ID:11041614 8730269 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21411831|REF_RGD_ID:11041773 8730269 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434484|PMID:16627556|PMID:24086573 8730269 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia ISO RGD:736414 D RGD:9068941 20200609 RGD associated with Malaria, Falciparum PMID:22689680|REF_RGD_ID:11041620 8730269 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia treatment ISO RGD:70971 D RGD:9068941 20200609 RGD associated with Inflammation PMID:21730356|PMID:24895335|REF_RGD_ID:11041618|REF_RGD_ID:11041619 8730269 Hamp hepcidin antimicrobial peptide gene DOID:2355 anemia treatment ISO RGD:736414 D RGD:9068941 20200609 RGD associated with Multiple Myeloma PMID:25052873|REF_RGD_ID:11041612 8730269 Hamp hepcidin antimicrobial peptide gene DOID:3525 middle cerebral artery infarction ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, hippocampus, corpus striatum PMID:21957487|REF_RGD_ID:11041635 8730269 Hamp hepcidin antimicrobial peptide gene DOID:543 dystonia ISO RGD:736414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8730269 Hamp hepcidin antimicrobial peptide gene DOID:5844 myocardial infarction ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19615879|REF_RGD_ID:11041636 8730269 Hamp hepcidin antimicrobial peptide gene DOID:6000 congestive heart failure ISO RGD:736414 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:21080339|REF_RGD_ID:11041621 8730269 Hamp hepcidin antimicrobial peptide gene DOID:630 genetic disease ISO RGD:736414 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8730269 Hamp hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:1550218 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:29235098|REF_RGD_ID:15042879 8730269 Hamp hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:70971 D RGD:9068941 20200609 RGD DNA:hypermethylation,hypomethylation:promoter PMID:29235098|REF_RGD_ID:15042879 8730269 Hamp hepcidin antimicrobial peptide gene DOID:684 hepatocellular carcinoma ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8730269 Hamp hepcidin antimicrobial peptide gene DOID:783 end stage renal disease ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:20631677|REF_RGD_ID:11041611 8730269 Hamp hepcidin antimicrobial peptide gene DOID:783 end stage renal disease ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16929540 8730269 Hamp hepcidin antimicrobial peptide gene DOID:783 end stage renal disease ISO RGD:736414 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19212416|REF_RGD_ID:11041622 8730269 Hamp hepcidin antimicrobial peptide gene DOID:820 myocarditis ISO RGD:736414 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19615879|REF_RGD_ID:11041636 8730269 Hamp hepcidin antimicrobial peptide gene DOID:893 Wilson disease ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9000099 Experimental Colitis ISO RGD:70971 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:24764672|REF_RGD_ID:11041628 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9002265 Kidney Neoplasms ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19615879|REF_RGD_ID:11041636 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9003936 Cardiomegaly ISO RGD:70971 D RGD:9068941 20200609 RGD PMID:24424338|REF_RGD_ID:11041632 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9005099 Salmonella Infections, Animal ISO RGD:1550218 D RGD:9068941 20200609 RGD PMID:23390527|REF_RGD_ID:11041609 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9005725 Iron Overload ISO RGD:70971 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19524651|REF_RGD_ID:11041720 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9005725 Iron Overload ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20801540|PMID:22659129 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9005725 Iron Overload ISO RGD:736414 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:SNP:promoter:c.-582A>G (rs10421768) (human) PMID:19734422|REF_RGD_ID:11041610 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19253830|REF_RGD_ID:11041633 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:hepatocyte PMID:24373749|REF_RGD_ID:11041724 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9007692 Insulin Resistance ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:17350134|REF_RGD_ID:1601515 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9008114 Helicobacter Infections treatment ISO RGD:736414 D RGD:9068941 20200609 RGD PMID:21757452|REF_RGD_ID:11041721 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9008550 Vitamin A Deficiency ISO RGD:70971 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:19217259|REF_RGD_ID:11041734 8730269 Hamp hepcidin antimicrobial peptide gene DOID:9775 diastolic heart failure ISO RGD:736414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8730281 Ciart circadian associated repressor of transcription gene DOID:0111940 immunodeficiency 42 ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8730281 Ciart circadian associated repressor of transcription gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8730281 Ciart circadian associated repressor of transcription gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8730281 Ciart circadian associated repressor of transcription gene DOID:1540 parathyroid carcinoma ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8730281 Ciart circadian associated repressor of transcription gene DOID:5812 MHC class II deficiency ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8730281 Ciart circadian associated repressor of transcription gene DOID:630 genetic disease ISO RGD:1347816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730281 Ciart circadian associated repressor of transcription gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8730301 Znf346 zinc finger protein 346 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1317625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8730301 Znf346 zinc finger protein 346 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1317625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8730301 Znf346 zinc finger protein 346 gene DOID:14748 Sotos syndrome ISO RGD:1317625 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8730301 Znf346 zinc finger protein 346 gene DOID:630 genetic disease ISO RGD:1317625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730301 Znf346 zinc finger protein 346 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1317625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8730301 Znf346 zinc finger protein 346 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1317625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8730318 Znrf2 zinc and ring finger 2 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1352531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 8730318 Znrf2 zinc and ring finger 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8730318 Znrf2 zinc and ring finger 2 gene DOID:630 genetic disease ISO RGD:1352531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730345 Otud7a OTU deubiquitinase 7A gene DOID:0050889 non-syndromic intellectual disability ISO RGD:1351552 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:25741868 8730345 Otud7a OTU deubiquitinase 7A gene DOID:0060041 autism spectrum disorder ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 8730345 Otud7a OTU deubiquitinase 7A gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome 8730345 Otud7a OTU deubiquitinase 7A gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1351552 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 8730345 Otud7a OTU deubiquitinase 7A gene DOID:12849 autistic disorder ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311 8730345 Otud7a OTU deubiquitinase 7A gene DOID:5419 schizophrenia ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8730345 Otud7a OTU deubiquitinase 7A gene DOID:630 genetic disease ISO RGD:1351552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730345 Otud7a OTU deubiquitinase 7A gene DOID:8927 learning disability ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:31997314 8730345 Otud7a OTU deubiquitinase 7A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8730345 Otud7a OTU deubiquitinase 7A gene DOID:9256 colorectal cancer ISO RGD:1351552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 8730345 Otud7a OTU deubiquitinase 7A gene DOID:93 language disorder ISO RGD:1351552 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Language disorder PMID:31997314 8730363 Bcl3 BCL3 transcription coactivator gene DOID:1936 atherosclerosis ISO RGD:1314971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25374339 8730363 Bcl3 BCL3 transcription coactivator gene DOID:630 genetic disease ISO RGD:1314971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730363 Bcl3 BCL3 transcription coactivator gene DOID:649 prion disease severity ISO RGD:1314972 D RGD:9068941 20201218 RGD PMID:17573907|REF_RGD_ID:40902830 8730363 Bcl3 BCL3 transcription coactivator gene DOID:9003370 Dyslipidemias ISO RGD:1314971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29670124 8730375 Znf296 zinc finger protein 296 gene DOID:630 genetic disease ISO RGD:1343580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730380 Spon1 spondin 1 gene DOID:0080600 COVID-19 ISO RGD:1343453 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8730380 Spon1 spondin 1 gene DOID:1059 intellectual disability ISO RGD:1343453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8730380 Spon1 spondin 1 gene DOID:630 genetic disease ISO RGD:1343453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730405 Gtpbp6 GTP binding protein 6 (putative) gene DOID:12849 autistic disorder ISO RGD:1353569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8730423 Tnfsf13b TNF superfamily member 13b gene DOID:0080600 COVID-19 ISO RGD:1345205 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8730423 Tnfsf13b TNF superfamily member 13b gene DOID:630 genetic disease ISO RGD:1345205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730423 Tnfsf13b TNF superfamily member 13b gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1345205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8730423 Tnfsf13b TNF superfamily member 13b gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1345205 D RGD:9068941 20200609 RGD PMID:30660173|REF_RGD_ID:27095888 8730449 Cep128 centrosomal protein 128 gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:1344060 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:10037069|PMID:12050212|PMID:16060907|PMID:17062880|PMID:17705697|PMID:18727713|PMID:1955520|PMID:21186955|PMID:21642385|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30372544|PMID:32368696|PMID:8964822|PMID:9385128 8730449 Cep128 centrosomal protein 128 gene DOID:0081101 nonautoimmune hyperthyroidism ISO RGD:1344060 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune PMID:10037069|PMID:12050212|PMID:16060907|PMID:17062880|PMID:17705697|PMID:18727713|PMID:1955520|PMID:21186955|PMID:21642385|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30372544|PMID:32368696|PMID:8964822|PMID:9385128 8730449 Cep128 centrosomal protein 128 gene DOID:0081102 familial gestational hyperthyroidism ISO RGD:1344060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial gestational hyperthyroidism PMID:24728327|PMID:25741868 8730449 Cep128 centrosomal protein 128 gene DOID:1826 epilepsy ISO RGD:1344060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure disorder PMID:12050212|PMID:25741868|PMID:8964822 8730449 Cep128 centrosomal protein 128 gene DOID:630 genetic disease ISO RGD:1344060 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16060907|PMID:17705697|PMID:18727713|PMID:21186955|PMID:21642385|PMID:25741868|PMID:28492532|PMID:30372544|PMID:32368696 8730449 Cep128 centrosomal protein 128 gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:1344060 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: TSH RESISTANCE PMID:10037069|PMID:12050212|PMID:16060907|PMID:17062880|PMID:17705697|PMID:18727713|PMID:1955520|PMID:21186955|PMID:21642385|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30372544|PMID:32368696|PMID:8964822|PMID:9385128 8730449 Cep128 centrosomal protein 128 gene DOID:9008086 Developmental Disabilities ISO RGD:1344060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:12050212|PMID:25741868|PMID:8964822 8730478 Rbm28 RNA binding motif protein 28 gene DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome ISO RGD:1322736 D RGD:7240710 20180130 OMIM 8730478 Rbm28 RNA binding motif protein 28 gene DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome ISO RGD:1322736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANE syndrome PMID:18439547|PMID:25741868 8730478 Rbm28 RNA binding motif protein 28 gene DOID:10907 microcephaly ISO RGD:1322736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8730478 Rbm28 RNA binding motif protein 28 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8730478 Rbm28 RNA binding motif protein 28 gene DOID:630 genetic disease ISO RGD:1322736 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8730526 Samd8 sterile alpha motif domain containing 8 gene DOID:630 genetic disease ISO RGD:1315069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730526 Samd8 sterile alpha motif domain containing 8 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1315069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 8730539 Igf2bp1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:0050912 colon adenoma ISO RGD:1623845 D RGD:9068941 20201218 RGD PMID:26194191|REF_RGD_ID:11086893 8730539 Igf2bp1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1606571 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8730539 Igf2bp1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1606571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730539 Igf2bp1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8730539 Igf2bp1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:769 neuroblastoma ISO RGD:1606571 D RGD:9068941 20231207 CTD CTD Direct Evidence: marker/mechanism PMID:37246217 8730539 Igf2bp1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:8566 herpes simplex ISO RGD:1623845 D RGD:9068941 20201218 RGD PMID:30050136|REF_RGD_ID:40902865 8730539 Igf2bp1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1606571 D RGD:9068941 20231207 CTD CTD Direct Evidence: marker/mechanism PMID:37246217 8730539 Igf2bp1 insulin like growth factor 2 mRNA binding protein 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1606571 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34974052 8730562 Cep83 centrosomal protein 83 gene DOID:0111125 nephronophthisis 18 ISO RGD:1606008 D RGD:7240710 20180130 OMIM 8730562 Cep83 centrosomal protein 83 gene DOID:0111125 nephronophthisis 18 ISO RGD:1606008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 18 PMID:16199547|PMID:17576681|PMID:23530209|PMID:24882706|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9536098 8730562 Cep83 centrosomal protein 83 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8730562 Cep83 centrosomal protein 83 gene DOID:11372 megacolon ISO RGD:1606008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8730562 Cep83 centrosomal protein 83 gene DOID:12712 nephronophthisis ISO RGD:1606008 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:23530209|PMID:24882706|PMID:28492532 8730562 Cep83 centrosomal protein 83 gene DOID:630 genetic disease ISO RGD:1606008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8730620 Mrps27 mitochondrial ribosomal protein S27 gene DOID:630 genetic disease ISO RGD:1323490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730620 Mrps27 mitochondrial ribosomal protein S27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8730635 Hoxd1 homeobox D1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319375 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8730635 Hoxd1 homeobox D1 gene DOID:630 genetic disease ISO RGD:1319375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730635 Hoxd1 homeobox D1 gene DOID:9000641 Pain ISO RGD:1319375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151121 8730635 Hoxd1 homeobox D1 gene DOID:9002211 Hyperalgesia ISO RGD:1319375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151121 8730635 Hoxd1 homeobox D1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 8730635 Hoxd1 homeobox D1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 8730643 Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1603016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:28492532 8730643 Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:0111996 immunodeficiency 51 ISO RGD:1603016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8730643 Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:11198 DiGeorge syndrome ISO RGD:1603016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8730643 Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:630 genetic disease ISO RGD:1603016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730643 Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8730643 Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1603016 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8730679 Ampd3 adenosine monophosphate deaminase 3 gene DOID:2661 myoepithelioma ISO RGD:732010 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8730679 Ampd3 adenosine monophosphate deaminase 3 gene DOID:630 genetic disease ISO RGD:732010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730679 Ampd3 adenosine monophosphate deaminase 3 gene DOID:9006043 Erythrocyte Amp Deaminase Deficiency ISO RGD:732010 D RGD:7240710 20180130 OMIM 8730679 Ampd3 adenosine monophosphate deaminase 3 gene DOID:9006043 Erythrocyte Amp Deaminase Deficiency ISO RGD:732010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocyte AMP deaminase deficiency PMID:25158045|PMID:25741868|PMID:28492532|PMID:7881427|PMID:8004104 8730705 Ccdc138 coiled-coil domain containing 138 gene DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 ISO RGD:1603550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 8730705 Ccdc138 coiled-coil domain containing 138 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1603550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 8730705 Ccdc138 coiled-coil domain containing 138 gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1603550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:28492532 8730705 Ccdc138 coiled-coil domain containing 138 gene DOID:630 genetic disease ISO RGD:1603550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730705 Ccdc138 coiled-coil domain containing 138 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1603550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 8730729 Tango6 transport and golgi organization 6 homolog gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8730729 Tango6 transport and golgi organization 6 homolog gene DOID:2661 myoepithelioma ISO RGD:1606243 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8730729 Tango6 transport and golgi organization 6 homolog gene DOID:630 genetic disease ISO RGD:1606243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730753 Nme6 NME/NM23 nucleoside diphosphate kinase 6 gene DOID:630 genetic disease ISO RGD:1604057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730753 Nme6 NME/NM23 nucleoside diphosphate kinase 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1604057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8730768 Noxo1 NADPH oxidase organizer 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1317206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8730768 Noxo1 NADPH oxidase organizer 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1317206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8730768 Noxo1 NADPH oxidase organizer 1 gene DOID:1826 epilepsy ISO RGD:1317206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8730768 Noxo1 NADPH oxidase organizer 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1317206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8730768 Noxo1 NADPH oxidase organizer 1 gene DOID:630 genetic disease ISO RGD:1317206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730781 E2f4 E2F transcription factor 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8730781 E2f4 E2F transcription factor 4 gene DOID:10754 otitis media ISO RGD:1323112 D RGD:9068941 20220825 MouseDO OMIM:166760 8730781 E2f4 E2F transcription factor 4 gene DOID:3883 Lynch syndrome ISO RGD:1323111 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 8730781 E2f4 E2F transcription factor 4 gene DOID:630 genetic disease ISO RGD:1323111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730781 E2f4 E2F transcription factor 4 gene DOID:9000918 Disease Progression ISO RGD:1323111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 8730795 Gja8 gap junction protein alpha 8 gene DOID:0060041 autism spectrum disorder ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8730795 Gja8 gap junction protein alpha 8 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:732563 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome PMID:25741868|PMID:26694549|PMID:28492532 8730795 Gja8 gap junction protein alpha 8 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:732563 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 8730795 Gja8 gap junction protein alpha 8 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:32499604 8730795 Gja8 gap junction protein alpha 8 gene DOID:0110231 cataract 1 multiple types ISO RGD:732563 D RGD:7240710 20180130 OMIM 8730795 Gja8 gap junction protein alpha 8 gene DOID:0110231 cataract 1 multiple types ISO RGD:732563 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 1 multiple types | ClinVar Annotator: match by term: Zonular Pulverulent Cataract PMID:10362609|PMID:10480374|PMID:11846744|PMID:12800976|PMID:14059288|PMID:14627691|PMID:16397066|PMID:16604058|PMID:16611690|PMID:17601931|PMID:17724170|PMID:18003700|PMID:18006672|PMID:18334946|PMID:18334966|PMID:18587493|PMID:19073179|PMID:19126675|PMID:19331825|PMID:19684000|PMID:20806042|PMID:21174522|PMID:21228318|PMID:21686328|PMID:23508780|PMID:23555834|PMID:23720739|PMID:23734083|PMID:23772370|PMID:23832966|PMID:24281366|PMID:24535056|PMID:24968223|PMID:25003127|PMID:25148791|PMID:25260631|PMID:25403472|PMID:25517998|PMID:25741868|PMID:26694549|PMID:27216975|PMID:27990357|PMID:28392901|PMID:28492532|PMID:29461512|PMID:29464339|PMID:30078984|PMID:30498267|PMID:30928190|PMID:33218330|PMID:33494148|PMID:33816482|PMID:34101287|PMID:35011756|PMID:35531093|PMID:9497259 8730795 Gja8 gap junction protein alpha 8 gene DOID:0110233 cataract 27 ISO RGD:732563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14627691 8730795 Gja8 gap junction protein alpha 8 gene DOID:10629 microphthalmia ISO RGD:732563 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 8730795 Gja8 gap junction protein alpha 8 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:732563 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:25741868|PMID:26694549|PMID:28492532 8730795 Gja8 gap junction protein alpha 8 gene DOID:1540 parathyroid carcinoma ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8730795 Gja8 gap junction protein alpha 8 gene DOID:5419 schizophrenia ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8730795 Gja8 gap junction protein alpha 8 gene DOID:630 genetic disease ISO RGD:732563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19684000|PMID:21686328|PMID:26694549|PMID:27785597|PMID:28455998|PMID:28492532 8730795 Gja8 gap junction protein alpha 8 gene DOID:83 cataract ISO RGD:732563 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:18334946|PMID:21228318|PMID:23832966|PMID:25003127|PMID:25741868|PMID:26694549|PMID:28392901|PMID:28492532|PMID:29464339|PMID:30498267 8730795 Gja8 gap junction protein alpha 8 gene DOID:9003799 Cataract Microcornea Syndrome ISO RGD:732563 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cataract microcornea syndrome PMID:18334946|PMID:19684000|PMID:21228318|PMID:21686328|PMID:23832966|PMID:25003127|PMID:25260631|PMID:25741868|PMID:26694549|PMID:28392901|PMID:28492532|PMID:29464339|PMID:30498267 8730795 Gja8 gap junction protein alpha 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8730795 Gja8 gap junction protein alpha 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8730800 Ttc38 tetratricopeptide repeat domain 38 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8730800 Ttc38 tetratricopeptide repeat domain 38 gene DOID:1059 intellectual disability ISO RGD:1602885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8730800 Ttc38 tetratricopeptide repeat domain 38 gene DOID:630 genetic disease ISO RGD:1602885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730821 Ogfr opioid growth factor receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8730821 Ogfr opioid growth factor receptor gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:737296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8730821 Ogfr opioid growth factor receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8730821 Ogfr opioid growth factor receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8730821 Ogfr opioid growth factor receptor gene DOID:1826 epilepsy ISO RGD:737296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 8730821 Ogfr opioid growth factor receptor gene DOID:630 genetic disease ISO RGD:737296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730836 Wdr3 WD repeat domain 3 gene DOID:3969 thyroid gland papillary carcinoma susceptibility ISO RGD:1316699 D RGD:9068941 20200609 RGD DNA:snps, haplotype:introns: c.500+239G>A, c.*1-2382A>C (rs3765501, rs4658973) (human) PMID:20578902|REF_RGD_ID:11041898 8730836 Wdr3 WD repeat domain 3 gene DOID:630 genetic disease ISO RGD:1316699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730876 Cul4a cullin 4A gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1351332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8730876 Cul4a cullin 4A gene DOID:0060224 atrial fibrillation ISO RGD:1351332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8730876 Cul4a cullin 4A gene DOID:2222 factor X deficiency ISO RGD:1351332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8730876 Cul4a cullin 4A gene DOID:630 genetic disease ISO RGD:1351332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730900 Slc5a12 solute carrier family 5 member 12 gene DOID:1059 intellectual disability ISO RGD:1345162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8730900 Slc5a12 solute carrier family 5 member 12 gene DOID:630 genetic disease ISO RGD:1345162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730919 Slc15a1 solute carrier family 15 member 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:730868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 8730919 Slc15a1 solute carrier family 15 member 1 gene DOID:4621 holoprosencephaly ISO RGD:730868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 8730919 Slc15a1 solute carrier family 15 member 1 gene DOID:630 genetic disease ISO RGD:730868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730919 Slc15a1 solute carrier family 15 member 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:730868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:0070192 autosomal recessive chronic granulomatous disease 1 ISO RGD:1348698 D RGD:7240710 20180130 OMIM 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:0070192 autosomal recessive chronic granulomatous disease 1 ISO RGD:1348698 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1 | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY PMID:11133775|PMID:11433300|PMID:11920901|PMID:16972229|PMID:24446915|PMID:25741868|PMID:33746979|PMID:742630|PMID:7678602 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1348698 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:11920901|PMID:24446915|PMID:25741868|PMID:33746979 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1348698 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED PMID:25741868 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1348698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:10763 hypertension ISO RGD:1348698 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16331104|PMID:17324946|PMID:19018797|PMID:32165127 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:10825 essential hypertension ISO RGD:1348698 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:10941 intracranial aneurysm ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381132 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28135245 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1348698 D RGD:9068941 20200609 RGD DNA:deletion PMID:16532385|REF_RGD_ID:1624399 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:3265 chronic granulomatous disease ISO RGD:1348698 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:11920901|PMID:24446915|PMID:25741868|PMID:33746979 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:630 genetic disease ISO RGD:1348698 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524|PMID:28135245 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:7148 rheumatoid arthritis induced ISO XCO:0000263 D RGD:9068941 20210212 RGD DNA:polymorphism:M153T (rat) PMID:21275845|REF_RGD_ID:41404729 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16864727 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:783 end stage renal disease ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14871415 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:9002395 Hypothermia ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30366073 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:61307 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.M106V, p.M153T (rat) PMID:12461526|REF_RGD_ID:628543 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14871415|PMID:16380483 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21742780 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28135245 8730951 Ncf1 neutrophil cytosolic factor 1 gene DOID:9351 diabetes mellitus ISO RGD:1348698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 8730971 Znf467 zinc finger protein 467 gene DOID:630 genetic disease ISO RGD:1350118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8730998 Mid2 midline 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1602493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8730998 Mid2 midline 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8730998 Mid2 midline 2 gene DOID:0112048 non-syndromic X-linked intellectual disability 101 ISO RGD:1602493 D RGD:7240710 20180130 OMIM 8730998 Mid2 midline 2 gene DOID:0112048 non-syndromic X-linked intellectual disability 101 ISO RGD:1602493 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 101 PMID:24115387|PMID:25741868 8730998 Mid2 midline 2 gene DOID:10485 esophageal atresia ISO RGD:1602493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8730998 Mid2 midline 2 gene DOID:12849 autistic disorder ISO RGD:1602493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8730998 Mid2 midline 2 gene DOID:630 genetic disease ISO RGD:1602493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8731034 Fat4 FAT atypical cadherin 4 gene DOID:0060238 Van Maldergem syndrome ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome PMID:24033266 8731034 Fat4 FAT atypical cadherin 4 gene DOID:0060366 Hennekam syndrome ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8731034 Fat4 FAT atypical cadherin 4 gene DOID:0060673 Peters anomaly ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459|PMID:28492532 8731034 Fat4 FAT atypical cadherin 4 gene DOID:0080205 CAKUT ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532|PMID:28878612|PMID:30143558 8731034 Fat4 FAT atypical cadherin 4 gene DOID:0080585 Van Maldergem syndrome 1 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van Maldergem syndrome 1 PMID:28492532 8731034 Fat4 FAT atypical cadherin 4 gene DOID:0080586 Van Maldergem syndrome 2 ISO RGD:1342504 D RGD:7240710 20180130 OMIM 8731034 Fat4 FAT atypical cadherin 4 gene DOID:0080586 Van Maldergem syndrome 2 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2 PMID:22469822|PMID:22473091|PMID:24033266|PMID:24056717|PMID:24913602|PMID:25741868|PMID:2624276|PMID:28492532|PMID:28878612|PMID:30143558|PMID:31384091 8731034 Fat4 FAT atypical cadherin 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1342504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 8731034 Fat4 FAT atypical cadherin 4 gene DOID:10907 microcephaly ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8731034 Fat4 FAT atypical cadherin 4 gene DOID:1909 melanoma ISO RGD:1342504 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8731034 Fat4 FAT atypical cadherin 4 gene DOID:2975 cystic kidney disease ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18604206 8731034 Fat4 FAT atypical cadherin 4 gene DOID:299 adenocarcinoma ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 8731034 Fat4 FAT atypical cadherin 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8731034 Fat4 FAT atypical cadherin 4 gene DOID:630 genetic disease ISO RGD:1342504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8731034 Fat4 FAT atypical cadherin 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 8731034 Fat4 FAT atypical cadherin 4 gene DOID:9001947 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 ISO RGD:1342504 D RGD:7240710 20180130 OMIM 8731034 Fat4 FAT atypical cadherin 4 gene DOID:9001947 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 PMID:22473091|PMID:24033266|PMID:24056717|PMID:24913602|PMID:25741868|PMID:2624276|PMID:28492532 8731034 Fat4 FAT atypical cadherin 4 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:1342504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 8731034 Fat4 FAT atypical cadherin 4 gene DOID:9003821 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 PMID:25741868 8731034 Fat4 FAT atypical cadherin 4 gene DOID:9006095 Ascites ISO RGD:1342504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascites PMID:25741868|PMID:28492532 8731034 Fat4 FAT atypical cadherin 4 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:1342504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Capillary infantile hemangioma PMID:25741868|PMID:28492532 8731061 Cckar cholecystokinin A receptor gene DOID:10211 cholelithiasis ISO RGD:731770 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA:decreased expression:gallbladder,smooth muscle PMID:15908333|REF_RGD_ID:2314139 8731061 Cckar cholecystokinin A receptor gene DOID:1574 alcohol use disorder ISO RGD:731770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9922984 8731061 Cckar cholecystokinin A receptor gene DOID:1793 pancreatic cancer ISO RGD:2289 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:8222074|REF_RGD_ID:4110822 8731061 Cckar cholecystokinin A receptor gene DOID:1793 pancreatic cancer ISO RGD:731770 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:10457335|REF_RGD_ID:4110817 8731061 Cckar cholecystokinin A receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731770 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic duct PMID:9239407|REF_RGD_ID:4110818 8731061 Cckar cholecystokinin A receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731770 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12851875|REF_RGD_ID:4110816 8731061 Cckar cholecystokinin A receptor gene DOID:630 genetic disease ISO RGD:731770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731061 Cckar cholecystokinin A receptor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:731770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25025063 8731061 Cckar cholecystokinin A receptor gene DOID:9003126 Hallucinations ISO RGD:731770 D RGD:9068941 20200609 RGD associated with Parkinson Disease;DNA:polymorphism, haplotype: :779T>C (human) PMID:12777967|REF_RGD_ID:1625802 8731061 Cckar cholecystokinin A receptor gene DOID:9003126 Hallucinations ISO RGD:731770 D RGD:9068941 20200609 RGD associated with Schizophrenia PMID:10572328|REF_RGD_ID:1358451 8731061 Cckar cholecystokinin A receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:2289 D RGD:9068941 20200609 RGD DNA:deletion PMID:16815799|REF_RGD_ID:1625200 8731061 Cckar cholecystokinin A receptor gene DOID:9970 obesity ISO RGD:2289 D RGD:9068941 20200609 RGD DNA:deletion PMID:9530226|REF_RGD_ID:7257724 8731061 Cckar cholecystokinin A receptor gene DOID:9970 obesity ISO RGD:731770 D RGD:9068941 20200609 RGD PMID:9192855|REF_RGD_ID:734711 8731070 Igsf6 immunoglobulin superfamily member 6 gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1343123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:25741868|PMID:33492714 8731070 Igsf6 immunoglobulin superfamily member 6 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1343123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 8731070 Igsf6 immunoglobulin superfamily member 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1343123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8731070 Igsf6 immunoglobulin superfamily member 6 gene DOID:630 genetic disease ISO RGD:1343123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731070 Igsf6 immunoglobulin superfamily member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8731080 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1354229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8731080 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:10787 premature menopause ISO RGD:1359366 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 8731080 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1354229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:25741868|PMID:31268215 8731080 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:2349 arteriosclerosis ISO RGD:1552173 D RGD:9068941 20200609 RGD PMID:16675724|REF_RGD_ID:1601111 8731080 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1354229 D RGD:9068941 20200609 RGD DNA:polymorphisms: :41A>G, 734C>T, IVS4-57_58ins48bp PMID:16195894|REF_RGD_ID:1601112 8731080 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:630 genetic disease ISO RGD:1354229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731080 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:1552173 D RGD:9068941 20200609 RGD PMID:11100118|REF_RGD_ID:1556516 8731080 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1354229 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:14557872|REF_RGD_ID:1581921 8731080 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:9007685 Cytosolic Acetoacetyl-CoA Thiolase Deficiency ISO RGD:1354229 D RGD:7240710 20180130 OMIM 8731080 Acat2 acetyl-CoA acetyltransferase 2 gene DOID:9007685 Cytosolic Acetoacetyl-CoA Thiolase Deficiency ISO RGD:1354229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acetyl-CoA acetyltransferase-2 deficiency PMID:25741868 8731107 Hfe homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:0050700 cardiomyopathy ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:0050700 cardiomyopathy no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.H63D (human) PMID:23861158|REF_RGD_ID:10755538 8731107 Hfe homeostatic iron regulator gene DOID:0050700 cardiomyopathy treatment ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.C282Y (human) PMID:23861158|REF_RGD_ID:10755538 8731107 Hfe homeostatic iron regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17001480 8731107 Hfe homeostatic iron regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.H63D, p.C282Y (human) PMID:12624489|REF_RGD_ID:10755559 8731107 Hfe homeostatic iron regulator gene DOID:0060041 autism spectrum disorder ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20808228 8731107 Hfe homeostatic iron regulator gene DOID:0080177 hepatic veno-occlusive disease susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:15834437|REF_RGD_ID:8694354 8731107 Hfe homeostatic iron regulator gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.H63D PMID:11473047|REF_RGD_ID:1601452 8731107 Hfe homeostatic iron regulator gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:9453491|REF_RGD_ID:8694420 8731107 Hfe homeostatic iron regulator gene DOID:0080348 Alzheimer's disease 1 ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Alzheimer disease type 1 PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:0111029 hemochromatosis type 1 ISO RGD:1345296 D RGD:7240710 20230816 OMIM 8731107 Hfe homeostatic iron regulator gene DOID:0111029 hemochromatosis type 1 ISO RGD:1345296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:10194428|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10575540|PMID:10612845|PMID:10660483|PMID:10930379|PMID:10950943|PMID:10953950|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11875012|PMID:11903354|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12537660|PMID:12542741|PMID:12584229|PMID:12681966|PMID:12693884|PMID:12707220|PMID:12737937|PMID:12885340|PMID:12915468|PMID:12952143|PMID:14618419|PMID:14633868|PMID:14673107|PMID:14729817|PMID:15025725|PMID:15046077|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15350019|PMID:15477198|PMID:15546588|PMID:15775762|PMID:15858186|PMID:15965644|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17079357|PMID:17210810|PMID:17240320|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:18762941|PMID:19084217|PMID:19159930|PMID:19214108|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:19759876|PMID:19787796|PMID:20107990|PMID:20117027|PMID:20301613|PMID:20471131|PMID:20560808|PMID:20609690|PMID:20722017|PMID:21228038|PMID:21243428|PMID:21349849|PMID:21411349|PMID:21452290|PMID:22531912|PMID:22624560|PMID:22890139|PMID:23178241|PMID:23429074|PMID:23657305|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:24872867|PMID:25457201|PMID:25504993|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26151776|PMID:26153218|PMID:26365338|PMID:26456104|PMID:26547814|PMID:26799139|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27518069|PMID:27659401|PMID:27667161|PMID:27890643|PMID:28111930|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29084376|PMID:29404719|PMID:29590070|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:33791166|PMID:34426522|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9536098|PMID:9546397|PMID:9585606|PMID:9851896|PMID:9851897|PMID:9858853 8731107 Hfe homeostatic iron regulator gene DOID:0111034 hemochromatosis type 2 ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2 PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:10652 Alzheimer's disease ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:10194428|PMID:10660483|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12377814|PMID:12429850|PMID:12885340|PMID:14673107|PMID:15347835|PMID:15546588|PMID:16132052|PMID:16186539|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17600748|PMID:18566337|PMID:19159930|PMID:19554541|PMID:19560233|PMID:19681031|PMID:20107990|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:23178241|PMID:23429074|PMID:24033266|PMID:24729993|PMID:25741868|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27173269|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29404719|PMID:30291871|PMID:31220083|PMID:31980526|PMID:8696333|PMID:8896550|PMID:9106528|PMID:9162021|PMID:9356458|PMID:9462220 8731107 Hfe homeostatic iron regulator gene DOID:11476 osteoporosis ISO RGD:736272 D RGD:9068941 20200609 RGD associated with hemochromatosis PMID:26829642|REF_RGD_ID:14746963 8731107 Hfe homeostatic iron regulator gene DOID:11713 diabetic angiopathy ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 7 PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:11758 iron deficiency anemia ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human) PMID:29194702|REF_RGD_ID:14701052 8731107 Hfe homeostatic iron regulator gene DOID:12241 beta thalassemia ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:14703689|REF_RGD_ID:10755489 8731107 Hfe homeostatic iron regulator gene DOID:12241 beta thalassemia ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (human) PMID:17160266|REF_RGD_ID:10755537 8731107 Hfe homeostatic iron regulator gene DOID:12241 beta thalassemia no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.H63D, p.S65C (human) PMID:17160266|REF_RGD_ID:10755537 8731107 Hfe homeostatic iron regulator gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:11040018|REF_RGD_ID:1582687 8731107 Hfe homeostatic iron regulator gene DOID:13268 porphyria ISO RGD:1345296 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: HFE POLYMORPHISM PMID:10401000|PMID:23657305|PMID:25504993|PMID:25741868|PMID:26547814|PMID:28111930|PMID:33791166 8731107 Hfe homeostatic iron regulator gene DOID:14330 Parkinson's disease ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16824219 8731107 Hfe homeostatic iron regulator gene DOID:1485 cystic fibrosis ISO RGD:1345296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12429850|PMID:12885340|PMID:14673107|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16880463|PMID:16979952|PMID:17600748|PMID:18199861|PMID:18566337|PMID:19159930|PMID:19554541|PMID:19560233|PMID:20301613|PMID:21243428|PMID:21349849|PMID:23429074|PMID:24033266|PMID:24729993|PMID:25741868|PMID:26365338|PMID:26975792|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31220083|PMID:31980526|PMID:8696333|PMID:8896550|PMID:8943161|PMID:9106528|PMID:9162021|PMID:9356458|PMID:9462220 8731107 Hfe homeostatic iron regulator gene DOID:1485 cystic fibrosis ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12429850|PMID:12885340|PMID:14673107|PMID:15347835|PMID:15546588|PMID:16132052|PMID:16186539|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17600748|PMID:18566337|PMID:19159930|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:23178241|PMID:23429074|PMID:24033266|PMID:24729993|PMID:25741868|PMID:26153218|PMID:26365338|PMID:26975792|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31220083|PMID:31980526|PMID:8696333|PMID:8896550|PMID:9106528|PMID:9162021|PMID:9356458|PMID:9462220 8731107 Hfe homeostatic iron regulator gene DOID:1485 cystic fibrosis severity ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.H63D, p.C282Y (human) PMID:30291871|REF_RGD_ID:14701045 8731107 Hfe homeostatic iron regulator gene DOID:1612 breast cancer no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.H63D, p.S65C, p.C282Y (human) PMID:15894659|REF_RGD_ID:8694349 8731107 Hfe homeostatic iron regulator gene DOID:1612 breast cancer susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:14973098|REF_RGD_ID:8694348 8731107 Hfe homeostatic iron regulator gene DOID:1883 hepatitis C ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15865084 8731107 Hfe homeostatic iron regulator gene DOID:2352 hemochromatosis ISO RGD:1345296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:10194428|PMID:10348824|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10545942|PMID:10545943|PMID:10545944|PMID:10575540|PMID:10612845|PMID:10660483|PMID:10930379|PMID:10953950|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11875012|PMID:11903354|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12537660|PMID:12542741|PMID:12584229|PMID:12681966|PMID:12693884|PMID:12707220|PMID:12737937|PMID:12885340|PMID:12915468|PMID:12952143|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15025725|PMID:15046077|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15324319|PMID:15347835|PMID:15350019|PMID:15477198|PMID:15546588|PMID:15775762|PMID:15858186|PMID:15965644|PMID:16132052|PMID:16186539|PMID:16199547|PMID:16879202|PMID:17042772|PMID:17079357|PMID:17210810|PMID:17240320|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17600748|PMID:17828789|PMID:18042412|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:18762941|PMID:19084217|PMID:19159930|PMID:19214108|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:19759876|PMID:19787796|PMID:20107990|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21228038|PMID:21243428|PMID:21349849|PMID:21411349|PMID:21452290|PMID:22531912|PMID:22624560|PMID:22890139|PMID:23178241|PMID:23429074|PMID:23657305|PMID:23953397|PMID:24033266|PMID:24442307|PMID:24604426|PMID:24729993|PMID:24872867|PMID:25457201|PMID:25504993|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26151776|PMID:26153218|PMID:26365338|PMID:26456104|PMID:26547814|PMID:26799139|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27518069|PMID:27659401|PMID:27667161|PMID:27890643|PMID:28111930|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29084376|PMID:29404719|PMID:29590070|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:33791166|PMID:34426522|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9536098|PMID:9546397|PMID:9585606|PMID:9851896|PMID:9851897|PMID:9858853 8731107 Hfe homeostatic iron regulator gene DOID:2394 ovarian cancer susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H63D (human) PMID:16216474|REF_RGD_ID:8694371 8731107 Hfe homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.C282Y, p.H63D (human) PMID:17137171|REF_RGD_ID:8694367 8731107 Hfe homeostatic iron regulator gene DOID:3132 porphyria cutanea tarda susceptibility ISO RGD:1345296 D RGD:9068941 20230817 RGD DNA:missense mutations:cds:p.C282Y, p.H63D (human) PMID:19001803|REF_RGD_ID:8694347 8731107 Hfe homeostatic iron regulator gene DOID:3393 coronary artery disease no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:12746412|REF_RGD_ID:1582673 8731107 Hfe homeostatic iron regulator gene DOID:3407 carotid artery disease no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:16886838|REF_RGD_ID:1582684 8731107 Hfe homeostatic iron regulator gene DOID:341 peripheral vascular disease no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:15175819|REF_RGD_ID:1582671 8731107 Hfe homeostatic iron regulator gene DOID:409 liver disease ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30651232|REF_RGD_ID:14746965 8731107 Hfe homeostatic iron regulator gene DOID:4346 variegate porphyria ISO RGD:1345296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Variegate porphyria PMID:10194428|PMID:10381492|PMID:10401000|PMID:10431233|PMID:10660483|PMID:10953950|PMID:11040194|PMID:11336458|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11875012|PMID:11904676|PMID:12241803|PMID:12377814|PMID:12429850|PMID:12436244|PMID:12537660|PMID:12542741|PMID:12584229|PMID:12681966|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:12952143|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15025725|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15350019|PMID:15477198|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17240320|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19214108|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:19681031|PMID:19759876|PMID:19787796|PMID:20107990|PMID:20301613|PMID:20471131|PMID:20560808|PMID:20609690|PMID:20722017|PMID:21228038|PMID:21243428|PMID:21349849|PMID:21411349|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26456104|PMID:26975792|PMID:27124787|PMID:27173269|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:29084376|PMID:29404719|PMID:29590070|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:34426522|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9536098|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:4971 myelofibrosis no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human) PMID:19258483|REF_RGD_ID:10755491 8731107 Hfe homeostatic iron regulator gene DOID:4971 myelofibrosis susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human) PMID:19258483|REF_RGD_ID:10755491 8731107 Hfe homeostatic iron regulator gene DOID:5082 liver cirrhosis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.H63D, p.C282Y (human) PMID:27816425|REF_RGD_ID:14701047 8731107 Hfe homeostatic iron regulator gene DOID:574 peripheral nervous system disease ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:5844 myocardial infarction no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:12850485|REF_RGD_ID:1582672 8731107 Hfe homeostatic iron regulator gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:10491370|REF_RGD_ID:1582697 8731107 Hfe homeostatic iron regulator gene DOID:630 genetic disease ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:16047841|REF_RGD_ID:8694357 8731107 Hfe homeostatic iron regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;DNA:missense mutation:cds:p.C282Y (human) PMID:20019189|REF_RGD_ID:2317357 8731107 Hfe homeostatic iron regulator gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:29642405|REF_RGD_ID:14746967 8731107 Hfe homeostatic iron regulator gene DOID:7148 rheumatoid arthritis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30651232|REF_RGD_ID:14746965 8731107 Hfe homeostatic iron regulator gene DOID:8398 osteoarthritis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30651232|REF_RGD_ID:14746965 8731107 Hfe homeostatic iron regulator gene DOID:8437 intestinal obstruction ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) PMID:30291871|REF_RGD_ID:14701045 8731107 Hfe homeostatic iron regulator gene DOID:8466 retinal degeneration ISO RGD:736272 D RGD:9068941 20200609 RGD PMID:19715555|REF_RGD_ID:8694351 8731107 Hfe homeostatic iron regulator gene DOID:853 polymyalgia rheumatica ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30657865|REF_RGD_ID:14746966 8731107 Hfe homeostatic iron regulator gene DOID:870 neuropathy ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:8778 Crohn's disease treatment ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:SNP: :rs2071303 (human) PMID:27115882|REF_RGD_ID:14701051 8731107 Hfe homeostatic iron regulator gene DOID:8947 diabetic retinopathy ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human) PMID:15347835|REF_RGD_ID:8694362 8731107 Hfe homeostatic iron regulator gene DOID:8997 polycythemia vera no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human) PMID:19258483|REF_RGD_ID:10755491 8731107 Hfe homeostatic iron regulator gene DOID:8997 polycythemia vera susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human) PMID:19258483|REF_RGD_ID:10755491 8731107 Hfe homeostatic iron regulator gene DOID:9000300 Refractory Anemia ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human) PMID:17654685|REF_RGD_ID:10755539 8731107 Hfe homeostatic iron regulator gene DOID:9000300 Refractory Anemia no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human) PMID:17654685|REF_RGD_ID:10755539 8731107 Hfe homeostatic iron regulator gene DOID:9000412 Presenile and Senile Dementia ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12429850|PMID:12885340|PMID:14673107|PMID:15347835|PMID:15546588|PMID:16132052|PMID:16186539|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17600748|PMID:18566337|PMID:19159930|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:23178241|PMID:23429074|PMID:24033266|PMID:24729993|PMID:25741868|PMID:26153218|PMID:26365338|PMID:26975792|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31220083|PMID:31980526|PMID:8696333|PMID:8896550|PMID:9106528|PMID:9162021|PMID:9356458|PMID:9462220 8731107 Hfe homeostatic iron regulator gene DOID:9000641 Pain ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Pain PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2793 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, Kupffer cell (rat) PMID:18599584|REF_RGD_ID:8694397 8731107 Hfe homeostatic iron regulator gene DOID:9002165 Diabetic Nephropathies ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human) PMID:15347835|REF_RGD_ID:8694362 8731107 Hfe homeostatic iron regulator gene DOID:9003936 Cardiomegaly ISO RGD:736272 D RGD:9068941 20200609 RGD associated with hemochromatosis PMID:28720890|REF_RGD_ID:14746969 8731107 Hfe homeostatic iron regulator gene DOID:9003996 Birth Weight ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20659343 8731107 Hfe homeostatic iron regulator gene DOID:9004272 Varicose Ulcer onset ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Chronic Venous Disease;DNA:missense mutation:cds:p.H63D (human) PMID:16678024|REF_RGD_ID:8694379 8731107 Hfe homeostatic iron regulator gene DOID:9004272 Varicose Ulcer susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Chronic Venous Disease;DNA:missense mutation:cds:p.C282Y (human) PMID:16102632|REF_RGD_ID:1582685 8731107 Hfe homeostatic iron regulator gene DOID:9005725 Iron Overload ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (human) PMID:14636644|REF_RGD_ID:10755536 8731107 Hfe homeostatic iron regulator gene DOID:9005725 Iron Overload ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:missense mutation: :p.H63D (human) PMID:11869934|REF_RGD_ID:10755541 8731107 Hfe homeostatic iron regulator gene DOID:9005725 Iron Overload no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :multiple PMID:14636644|REF_RGD_ID:10755536 8731107 Hfe homeostatic iron regulator gene DOID:9005725 Iron Overload no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.C282Y, p.H63D (human) PMID:10895137|REF_RGD_ID:10755542 8731107 Hfe homeostatic iron regulator gene DOID:9005734 Abdominal Pain ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Abdominal pain PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8731107 Hfe homeostatic iron regulator gene DOID:9006465 Meconium Ileus ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) PMID:30291871|REF_RGD_ID:14701045 8731107 Hfe homeostatic iron regulator gene DOID:9006534 Nervous System Malformations ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19444013|PMID:19554541|PMID:20301613|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23953397|PMID:24033266|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897 8731107 Hfe homeostatic iron regulator gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD PMID:11545759|REF_RGD_ID:1582695 8731107 Hfe homeostatic iron regulator gene DOID:9008520 Chronic Pain ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30657865|REF_RGD_ID:14746966 8731107 Hfe homeostatic iron regulator gene DOID:9008824 Sarcopenia ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30657865|REF_RGD_ID:14746966 8731107 Hfe homeostatic iron regulator gene DOID:9008914 Lead Poisoning ISO RGD:1345296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20659343 8731107 Hfe homeostatic iron regulator gene DOID:9256 colorectal cancer susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.C282Y (human) PMID:10383894|REF_RGD_ID:8694350 8731107 Hfe homeostatic iron regulator gene DOID:9351 diabetes mellitus ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C282Y (rs1800562) (human) PMID:30651232|REF_RGD_ID:14746965 8731107 Hfe homeostatic iron regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:missense mutation: :p.C282Y (human) PMID:30291871|REF_RGD_ID:14701045 8731107 Hfe homeostatic iron regulator gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H63D (human) PMID:20097100|REF_RGD_ID:8694381 8731107 Hfe homeostatic iron regulator gene DOID:9452 steatotic liver disease no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD Non-alcoholic steatohepatitis (NASH) PMID:12105842|REF_RGD_ID:1601460 8731107 Hfe homeostatic iron regulator gene DOID:9538 multiple myeloma susceptibility ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.C282Y (human) PMID:10383894|REF_RGD_ID:8694350 8731107 Hfe homeostatic iron regulator gene DOID:9663 aphthous stomatitis ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.H63D (human) PMID:28950260|REF_RGD_ID:14746964 8731107 Hfe homeostatic iron regulator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.H63D (human) PMID:17107905|REF_RGD_ID:10755558 8731107 Hfe homeostatic iron regulator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C282Y (human) PMID:10627122|REF_RGD_ID:10755557 8731107 Hfe homeostatic iron regulator gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1345296 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H63D (human) PMID:10627122|REF_RGD_ID:10755557 8731107 Hfe homeostatic iron regulator gene DOID:9970 obesity ISO RGD:1345296 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutations:CDS:p.C282Y, p.H63D (human) PMID:10705106|REF_RGD_ID:1601449 8731117 Ubox5 U-box domain containing 5 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1605087 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8731117 Ubox5 U-box domain containing 5 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1605087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8731117 Ubox5 U-box domain containing 5 gene DOID:630 genetic disease ISO RGD:1605087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731117 Ubox5 U-box domain containing 5 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1605087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8731138 Kif18b kinesin family member 18B gene DOID:0080600 COVID-19 ISO RGD:2292085 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8731138 Kif18b kinesin family member 18B gene DOID:1909 melanoma ISO RGD:2292085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31617652 8731138 Kif18b kinesin family member 18B gene DOID:684 hepatocellular carcinoma ISO RGD:2292085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8731161 Gpr157 G protein-coupled receptor 157 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322370 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8731161 Gpr157 G protein-coupled receptor 157 gene DOID:630 genetic disease ISO RGD:1322370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731161 Gpr157 G protein-coupled receptor 157 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1350913 D RGD:9068941 20200609 RGD PMID:14648660|REF_RGD_ID:7483575 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1350913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:224 transient cerebral ischemia ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:14972662|REF_RGD_ID:2314028 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:25888379|REF_RGD_ID:11561985 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:620800 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17379825|REF_RGD_ID:9685412 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:5327 retinal detachment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:26093278|REF_RGD_ID:11561987 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:5327 retinal detachment ISO RGD:733814 D RGD:9068941 20200609 RGD PMID:26093278|REF_RGD_ID:11561987 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:5844 myocardial infarction ISO RGD:620800 D RGD:9068941 20200609 RGD mRNA:increased expression:plantaris PMID:24427319|REF_RGD_ID:11557988 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:6000 congestive heart failure treatment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:23508759|REF_RGD_ID:11561982 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1350913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:783 end stage renal disease ISO RGD:620800 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:24090408|REF_RGD_ID:11561926 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1350913 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:16002567|REF_RGD_ID:11561971 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620800 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23637053|REF_RGD_ID:11564330 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:24990154|REF_RGD_ID:11561988 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9000304 Manganese Poisoning ISO RGD:1350913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19442826 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:23850688|REF_RGD_ID:11561986 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18163427 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620800 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:23698117|REF_RGD_ID:11561968 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9007480 Hyperoxia ISO RGD:620800 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:20157446|REF_RGD_ID:5128796 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620800 D RGD:9068941 20220930 RGD protein:decreased expression:myocardium (human) PMID:28661226|REF_RGD_ID:155260328 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:16645637|REF_RGD_ID:11561983 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9008217 Hemorrhage ISO RGD:620800 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:21193900|REF_RGD_ID:11564331 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9538 multiple myeloma ISO RGD:1350913 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18172295 8731175 Bnip3 BCL2 interacting protein 3 gene DOID:9970 obesity ISO RGD:620800 D RGD:9068941 20200609 RGD PMID:18070754|REF_RGD_ID:2292682 8731185 Sftpb surfactant protein B gene DOID:0050848 obstructive sleep apnea ISO RGD:737197 D RGD:9068941 20220414 RGD protein:decreased expression:serum: PMID:25953386|REF_RGD_ID:151667446 8731185 Sftpb surfactant protein B gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:737197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8731185 Sftpb surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Pulmonary Alveolar Proteinosis;DNA:insertion:exon:375delCinsGAA (human) PMID:8163685|REF_RGD_ID:1624152 8731185 Sftpb surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism:intron (human) PMID:12515908|REF_RGD_ID:4143414 8731185 Sftpb surfactant protein B gene DOID:11162 respiratory failure ISO RGD:737198 D RGD:9068941 20200609 RGD PMID:12639841|PMID:1622844|REF_RGD_ID:4143410|REF_RGD_ID:4143460 8731185 Sftpb surfactant protein B gene DOID:11339 pneumocystosis ISO RGD:737198 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11385364|REF_RGD_ID:4143431 8731185 Sftpb surfactant protein B gene DOID:11394 adult respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Pneumonia;DNA:polymorphism: :1580C>T (human) PMID:15190959|REF_RGD_ID:4143404 8731185 Sftpb surfactant protein B gene DOID:11394 adult respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:17662121|REF_RGD_ID:4143379 8731185 Sftpb surfactant protein B gene DOID:11394 adult respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9351625|REF_RGD_ID:4143447 8731185 Sftpb surfactant protein B gene DOID:11394 adult respiratory distress syndrome susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Lung Injury;DNA:polymorphism:intron (human) PMID:14718442|REF_RGD_ID:4143408 8731185 Sftpb surfactant protein B gene DOID:11650 bronchopulmonary dysplasia ISO RGD:737197 D RGD:9068941 20200609 RGD PMID:17264398|REF_RGD_ID:4143384 8731185 Sftpb surfactant protein B gene DOID:11650 bronchopulmonary dysplasia ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:deletion:intron (human) PMID:15102713|REF_RGD_ID:4143405 8731185 Sftpb surfactant protein B gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:12424586|REF_RGD_ID:4143418 8731185 Sftpb surfactant protein B gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:737197 D RGD:9068941 20220414 RGD DNA:SNPs:5'UTR,exon: PMID:26045806|REF_RGD_ID:11085373 8731185 Sftpb surfactant protein B gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737197 D RGD:9068941 20200609 RGD protein:altered processing:lung PMID:16042774|REF_RGD_ID:4143392 8731185 Sftpb surfactant protein B gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737197 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12612307|REF_RGD_ID:4143411 8731185 Sftpb surfactant protein B gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737198 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:7654386|REF_RGD_ID:4143454 8731185 Sftpb surfactant protein B gene DOID:12716 newborn respiratory distress syndrome ISO RGD:621700 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11504697|REF_RGD_ID:4143428 8731185 Sftpb surfactant protein B gene DOID:12716 newborn respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD PMID:12490037|PMID:18353230|REF_RGD_ID:4143376|REF_RGD_ID:4143416 8731185 Sftpb surfactant protein B gene DOID:12716 newborn respiratory distress syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:7832777|REF_RGD_ID:4143455 8731185 Sftpb surfactant protein B gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T131I (human) PMID:11063734|REF_RGD_ID:4143433 8731185 Sftpb surfactant protein B gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:12424586|REF_RGD_ID:4143418 8731185 Sftpb surfactant protein B gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737197 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10194154|REF_RGD_ID:4143439 8731185 Sftpb surfactant protein B gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, cds, intron:-32G>T (rs2077079), p.T131I (rs1130866), 5781A>C (rs2040349) (human) PMID:17498296|REF_RGD_ID:4143382 8731185 Sftpb surfactant protein B gene DOID:1324 lung cancer ISO RGD:737197 D RGD:9068941 20220407 RGD PMID:24248694|REF_RGD_ID:151667422 8731185 Sftpb surfactant protein B gene DOID:1324 lung cancer disease_progression ISO RGD:737197 D RGD:9068941 20220407 RGD PMID:28743125|REF_RGD_ID:151667423 8731185 Sftpb surfactant protein B gene DOID:14115 toxic shock syndrome ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Pneumonia;DNA:polymorphism: :1580C>T (human) PMID:15190959|REF_RGD_ID:4143404 8731185 Sftpb surfactant protein B gene DOID:1485 cystic fibrosis ISO RGD:737197 D RGD:9068941 20200609 RGD mRNA:increased expression:respiratory system mucosa PMID:17507829|REF_RGD_ID:4143381 8731185 Sftpb surfactant protein B gene DOID:2841 asthma ISO RGD:621700 D RGD:9068941 20200609 RGD protein:decreased expression:lung, Clara cell PMID:15816355|REF_RGD_ID:4143398 8731185 Sftpb surfactant protein B gene DOID:2841 asthma ISO RGD:737197 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16629790|REF_RGD_ID:4143462 8731185 Sftpb surfactant protein B gene DOID:2841 asthma ISO RGD:737198 D RGD:9068941 20200609 RGD PMID:18926058|REF_RGD_ID:4143289 8731185 Sftpb surfactant protein B gene DOID:2841 asthma ISO RGD:737198 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11472974|REF_RGD_ID:4143465 8731185 Sftpb surfactant protein B gene DOID:2914 immune system disease ISO RGD:737198 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumocystis carinii;protein:decreased expression:lung PMID:19201882|REF_RGD_ID:4143286 8731185 Sftpb surfactant protein B gene DOID:3082 interstitial lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:SNP: :p.T131I (rs1130866) (human) PMID:18263595|REF_RGD_ID:4143377 8731185 Sftpb surfactant protein B gene DOID:3082 interstitial lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:11445799|REF_RGD_ID:4143430 8731185 Sftpb surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:SNP: :p.T131I (rs1130866) (human) PMID:15817713|REF_RGD_ID:4143396 8731185 Sftpb surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18550614|REF_RGD_ID:4143290 8731185 Sftpb surfactant protein B gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism: :1580C>T (human) PMID:11589345|PMID:15315329|REF_RGD_ID:4143402|REF_RGD_ID:4143423 8731185 Sftpb surfactant protein B gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:13680361|REF_RGD_ID:4143409 8731185 Sftpb surfactant protein B gene DOID:3827 congenital diaphragmatic hernia treatment ISO RGD:621700 D RGD:9068941 20220408 RGD PMID:11051153|REF_RGD_ID:151667435 8731185 Sftpb surfactant protein B gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737197 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:16570259|REF_RGD_ID:4143389 8731185 Sftpb surfactant protein B gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:737197 D RGD:9068941 20220407 RGD DNA:variants:intron: PMID:12107845|REF_RGD_ID:151667424 8731185 Sftpb surfactant protein B gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:737197 D RGD:9068941 20220407 RGD DNA:SNPs: :rs7316, rs9752 (human) PMID:31016788|REF_RGD_ID:151667418 8731185 Sftpb surfactant protein B gene DOID:552 pneumonia ISO RGD:737197 D RGD:9068941 20200609 RGD PMID:16024721|REF_RGD_ID:4143393 8731185 Sftpb surfactant protein B gene DOID:552 pneumonia ISO RGD:737198 D RGD:9068941 20200609 RGD PMID:12594064|PMID:15967375|REF_RGD_ID:4143394|REF_RGD_ID:4143412 8731185 Sftpb surfactant protein B gene DOID:630 genetic disease ISO RGD:737197 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8731185 Sftpb surfactant protein B gene DOID:850 lung disease ISO RGD:10717 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:16309574|REF_RGD_ID:4143390 8731185 Sftpb surfactant protein B gene DOID:850 lung disease ISO RGD:621700 D RGD:9068941 20200609 RGD Meconium Aspiration Syndrome;protein:decreased expression:lung PMID:9374572|REF_RGD_ID:4143446 8731185 Sftpb surfactant protein B gene DOID:850 lung disease ISO RGD:621700 D RGD:9068941 20200609 RGD associated with Hyperoxia;mRNA:increased expression:lung PMID:19099817|REF_RGD_ID:4143287 8731185 Sftpb surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 8731185 Sftpb surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:pneumocyte PMID:8569184|REF_RGD_ID:4143451 8731185 Sftpb surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:increased expression:lung PMID:16274485|REF_RGD_ID:4143463 8731185 Sftpb surfactant protein B gene DOID:850 lung disease ISO RGD:737197 D RGD:9068941 20200609 RGD protein:altered processing:lung PMID:16042774|REF_RGD_ID:4143392 8731185 Sftpb surfactant protein B gene DOID:874 bacterial pneumonia ISO RGD:621700 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12169586|REF_RGD_ID:4143464 8731185 Sftpb surfactant protein B gene DOID:874 bacterial pneumonia ISO RGD:737197 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:increased expression:lung PMID:15271694|REF_RGD_ID:4143403 8731185 Sftpb surfactant protein B gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737198 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14748931|REF_RGD_ID:4143407 8731185 Sftpb surfactant protein B gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:737197 D RGD:7240710 20180130 OMIM 8731185 Sftpb surfactant protein B gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:737197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN B DEFICIENCY | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1 | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:10378403|PMID:10571948|PMID:10712351|PMID:10960490|PMID:21965505|PMID:23625987|PMID:24033266|PMID:25741868|PMID:26199800|PMID:28492532|PMID:28888561|PMID:7491219|PMID:8163685|PMID:9506635|PMID:9682215|PMID:9973546 8731185 Sftpb surfactant protein B gene DOID:9001049 Staphylococcal Pneumonia ameliorates ISO RGD:737197 D RGD:9068941 20220414 RGD PMID:20007532|REF_RGD_ID:151667448 8731185 Sftpb surfactant protein B gene DOID:9002379 Congenital Deficiency of Pulmonary Surfactant Protein B ISO RGD:737197 D RGD:9068941 20220414 RGD DNA:mutations: : PMID:10378403|REF_RGD_ID:151667447 8731185 Sftpb surfactant protein B gene DOID:9002379 Congenital Deficiency of Pulmonary Surfactant Protein B ameliorates ISO RGD:737197 D RGD:9068941 20220414 RGD PMID:28581337|REF_RGD_ID:151667445 8731185 Sftpb surfactant protein B gene DOID:9003953 Surfactant Dysfunction ISO RGD:737197 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:10571948|PMID:10712351|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28888561|PMID:7491219|PMID:9506635|PMID:9973546 8731185 Sftpb surfactant protein B gene DOID:9004610 Acute Lung Injury treatment ISO RGD:621700 D RGD:9068941 20220408 RGD PMID:22295533|REF_RGD_ID:151667443 8731185 Sftpb surfactant protein B gene DOID:9005172 Lung Neoplasms ISO RGD:737197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16570259 8731185 Sftpb surfactant protein B gene DOID:9007417 Pseudomonas Infections ameliorates ISO RGD:737197 D RGD:9068941 20220414 RGD PMID:20007532|REF_RGD_ID:151667448 8731185 Sftpb surfactant protein B gene DOID:9007480 Hyperoxia ISO RGD:621700 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11472975|REF_RGD_ID:4143429 8731185 Sftpb surfactant protein B gene DOID:9007480 Hyperoxia ISO RGD:737198 D RGD:9068941 20200609 RGD PMID:10502556|REF_RGD_ID:4143438 8731185 Sftpb surfactant protein B gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10830305|PMID:16863852 8731185 Sftpb surfactant protein B gene DOID:9970 obesity ISO RGD:621700 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15136884|REF_RGD_ID:4143472 8731210 Afg2b AFG2 AAA ATPase homolog B gene DOID:0050712 AGAT deficiency ISO RGD:1317463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8731210 Afg2b AFG2 AAA ATPase homolog B gene DOID:2717 Bloom syndrome ISO RGD:1317463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8731210 Afg2b AFG2 AAA ATPase homolog B gene DOID:630 genetic disease ISO RGD:1317463 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:34626583 8731210 Afg2b AFG2 AAA ATPase homolog B gene DOID:9001315 NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY ISO RGD:1317463 D RGD:7240710 20220216 OMIM 8731210 Afg2b AFG2 AAA ATPase homolog B gene DOID:9001315 NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY ISO RGD:1317463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder PMID:25741868|PMID:28492532|PMID:34626583 8731210 Afg2b AFG2 AAA ATPase homolog B gene DOID:9005720 Autosomal Recessive Nonsyndromic Deafness 119 ISO RGD:1317463 D RGD:7240710 20211208 OMIM 8731210 Afg2b AFG2 AAA ATPase homolog B gene DOID:9005720 Autosomal Recessive Nonsyndromic Deafness 119 ISO RGD:1317463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 PMID:25741868|PMID:28492532|PMID:34626583 8731210 Afg2b AFG2 AAA ATPase homolog B gene DOID:9256 colorectal cancer ISO RGD:1317463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8731233 Dpp10 dipeptidyl peptidase like 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1315036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252227 8731233 Dpp10 dipeptidyl peptidase like 10 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8731233 Dpp10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1306427 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:17967935|REF_RGD_ID:4892278 8731233 Dpp10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:9068941 20200609 RGD DNA:SNP: :rs10208402 (human) PMID:19672052|REF_RGD_ID:4892275 8731233 Dpp10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:9068941 20200609 RGD DNA:SNP:exon (human) PMID:14566338|REF_RGD_ID:4892276 8731233 Dpp10 dipeptidyl peptidase like 10 gene DOID:2841 asthma ISO RGD:1315036 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:21103062|REF_RGD_ID:4889866 8731233 Dpp10 dipeptidyl peptidase like 10 gene DOID:5419 schizophrenia ISO RGD:1315036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8731233 Dpp10 dipeptidyl peptidase like 10 gene DOID:630 genetic disease ISO RGD:1315036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731233 Dpp10 dipeptidyl peptidase like 10 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1315036 D RGD:9068941 20200609 RGD PMID:19951440|REF_RGD_ID:4892274 8731233 Dpp10 dipeptidyl peptidase like 10 gene DOID:9007188 Liver Neoplasms ISO RGD:1315036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8731282 Mfn2 mitofusin 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 8731282 Mfn2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30649465|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31315766|PMID:31453851|PMID:31664033|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9333264|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30649465|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31315766|PMID:31453851|PMID:31664033|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9333264|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21735565|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732569 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32657593|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34193129|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35922214|PMID:35938991|PMID:35994048|PMID:8406488|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732569 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:15549395|PMID:16437557|PMID:16762064|PMID:16835246|PMID:17444508|PMID:18996695|PMID:20008656|PMID:20301684|PMID:20350294|PMID:20587496|PMID:21508331|PMID:21707411|PMID:22206013|PMID:22492563|PMID:22762946|PMID:24604904|PMID:24819634|PMID:25448007|PMID:25741868|PMID:25802885|PMID:26085578|PMID:26467025|PMID:27549087|PMID:28063088|PMID:28492532|PMID:29898954|PMID:31673878|PMID:32376792 8731282 Mfn2 mitofusin 2 gene DOID:0050753 cerebellar ataxia ISO RGD:732569 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:15064763|PMID:16043786|PMID:16835246|PMID:17296794|PMID:17959936|PMID:18316077|PMID:19812251|PMID:20008656|PMID:21508331|PMID:22492563|PMID:24126688|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26801520|PMID:27100445|PMID:28492532|PMID:28660751|PMID:29898954 8731282 Mfn2 mitofusin 2 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:732569 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8731282 Mfn2 mitofusin 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732569 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8731282 Mfn2 mitofusin 2 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:732569 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY PMID:15064763|PMID:15549395|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17444508|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21840889|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23781337|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26147798|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26955893|PMID:27549087|PMID:27582484|PMID:27863451|PMID:28063088|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:31108397|PMID:31130284|PMID:31188717|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34366782|PMID:35938991|PMID:8406488 8731282 Mfn2 mitofusin 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:26401075|REF_RGD_ID:13204743 8731282 Mfn2 mitofusin 2 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:732569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 8731282 Mfn2 mitofusin 2 gene DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ISO RGD:732569 D RGD:7240710 20190703 OMIM 8731282 Mfn2 mitofusin 2 gene DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ISO RGD:732569 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A PMID:10732809|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24473995|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26147798|PMID:26230519|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30882371|PMID:31108397|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34354735|PMID:34366782|PMID:35418194|PMID:35938991|PMID:8406488|PMID:9409358 8731282 Mfn2 mitofusin 2 gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:16199547|PMID:16714318|PMID:18425620|PMID:21715711|PMID:22206013|PMID:26955893|PMID:28492532 8731282 Mfn2 mitofusin 2 gene DOID:0111557 Charcot-Marie-Tooth disease type 2A2B ISO RGD:732569 D RGD:7240710 20190315 OMIM 8731282 Mfn2 mitofusin 2 gene DOID:0111557 Charcot-Marie-Tooth disease type 2A2B ISO RGD:732569 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency PMID:15064763|PMID:15549395|PMID:16043786|PMID:16199547|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17437620|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21531138|PMID:21576112|PMID:21715711|PMID:21840889|PMID:22442078|PMID:22492563|PMID:22494076|PMID:23147504|PMID:23456260|PMID:23781337|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25614874|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26230519|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26382835|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26801520|PMID:26955893|PMID:28215760|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30649465|PMID:30659145|PMID:30882371|PMID:31186069|PMID:31640251|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32214227|PMID:32399692|PMID:32657593|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34193129|PMID:34354735|PMID:35418194|PMID:8406488|PMID:9409358 8731282 Mfn2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28166811|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31211173|PMID:31673878|PMID:32376792|PMID:32963807|PMID:8406488|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28166811|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31211173|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31453851|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31453851|PMID:31673878|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33415332|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732569 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35922214|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:10652 Alzheimer's disease ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:28302704|REF_RGD_ID:12910737 8731282 Mfn2 mitofusin 2 gene DOID:10652 Alzheimer's disease ISO RGD:732569 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (human) PMID:19605646|REF_RGD_ID:7800727 8731282 Mfn2 mitofusin 2 gene DOID:10763 hypertension ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (rat) PMID:25464244|REF_RGD_ID:13204764 8731282 Mfn2 mitofusin 2 gene DOID:10763 hypertension treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:27847271|REF_RGD_ID:12910764 8731282 Mfn2 mitofusin 2 gene DOID:10907 microcephaly ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 8731282 Mfn2 mitofusin 2 gene DOID:11716 prediabetes syndrome ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:27521417|REF_RGD_ID:12910830 8731282 Mfn2 mitofusin 2 gene DOID:11720 distal myopathy ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25403865|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 8731282 Mfn2 mitofusin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:732570 D RGD:9068941 20200609 RGD with Mfn1 knockout PMID:22052916|REF_RGD_ID:11251967 8731282 Mfn2 mitofusin 2 gene DOID:13001 carotid stenosis treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:15322553|REF_RGD_ID:1304351 8731282 Mfn2 mitofusin 2 gene DOID:14116 multiple symmetric lipomatosis ISO RGD:732569 D RGD:7240710 20230607 OMIM 8731282 Mfn2 mitofusin 2 gene DOID:14116 multiple symmetric lipomatosis ISO RGD:732569 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Madelung's disease | ClinVar Annotator: match by term: Multiple symmetric lipomatosis PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:28251916|PMID:28414270|PMID:28492532|PMID:29358271|PMID:30158064|PMID:33415332|PMID:33502018 8731282 Mfn2 mitofusin 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:732569 D RGD:9068941 20230520 RGD protein:decreased expression:vastus lateralis PMID:23972212|REF_RGD_ID:329812002 8731282 Mfn2 mitofusin 2 gene DOID:1596 depressive disorder treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:22244747|REF_RGD_ID:13204844 8731282 Mfn2 mitofusin 2 gene DOID:1969 cerebral palsy ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8731282 Mfn2 mitofusin 2 gene DOID:224 transient cerebral ischemia ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:brain (rat) PMID:25147362|REF_RGD_ID:13204807 8731282 Mfn2 mitofusin 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:732569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:25741868|PMID:26467025|PMID:28492532 8731282 Mfn2 mitofusin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732569 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 8731282 Mfn2 mitofusin 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:24912636|REF_RGD_ID:13204824 8731282 Mfn2 mitofusin 2 gene DOID:4752 multiple system atrophy ISO RGD:732569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple system atrophy, cerebellar type PMID:25741868 8731282 Mfn2 mitofusin 2 gene DOID:574 peripheral nervous system disease ISO RGD:732569 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10732809|PMID:15064763|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:18602827|PMID:21149811|PMID:21772703|PMID:22492563|PMID:24863639|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27863451|PMID:28286897|PMID:28492532|PMID:28660751|PMID:30340945|PMID:31211173|PMID:31372974|PMID:31832804|PMID:32657593|PMID:33415332|PMID:34193129 8731282 Mfn2 mitofusin 2 gene DOID:5844 myocardial infarction treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:20886221|REF_RGD_ID:12738232 8731282 Mfn2 mitofusin 2 gene DOID:630 genetic disease ISO RGD:732569 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15064763|PMID:15549395|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17215403|PMID:17296794|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21840889|PMID:22442078|PMID:22492563|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23781337|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26147798|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28251916|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29453956|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30882371|PMID:31108397|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31372974|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098 8731282 Mfn2 mitofusin 2 gene DOID:7319 axonal neuropathy ISO RGD:732569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:28251916|PMID:28414270|PMID:28492532|PMID:29358271|PMID:30158064|PMID:33415332|PMID:33502018 8731282 Mfn2 mitofusin 2 gene DOID:870 neuropathy ISO RGD:732569 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10732809|PMID:15064763|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:18602827|PMID:21149811|PMID:21772703|PMID:22492563|PMID:24863639|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27863451|PMID:28286897|PMID:28492532|PMID:28660751|PMID:30340945|PMID:31211173|PMID:31372974|PMID:31832804|PMID:32657593|PMID:33415332|PMID:34193129 8731282 Mfn2 mitofusin 2 gene DOID:8947 diabetic retinopathy ISO RGD:628843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat) PMID:28487236|REF_RGD_ID:12910715 8731282 Mfn2 mitofusin 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:26079325|REF_RGD_ID:12437066 8731282 Mfn2 mitofusin 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:28404953|REF_RGD_ID:12910735 8731282 Mfn2 mitofusin 2 gene DOID:9000304 Manganese Poisoning ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (rat) PMID:28232070|REF_RGD_ID:12910738 8731282 Mfn2 mitofusin 2 gene DOID:9001276 Failure to Thrive ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 8731282 Mfn2 mitofusin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:25369251|REF_RGD_ID:13204798 8731282 Mfn2 mitofusin 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:26882442|REF_RGD_ID:12910839 8731282 Mfn2 mitofusin 2 gene DOID:9001890 Auditory Neuropathy ISO RGD:732569 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy 8731282 Mfn2 mitofusin 2 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:24898700|REF_RGD_ID:13204829 8731282 Mfn2 mitofusin 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:27363631|REF_RGD_ID:12910833 8731282 Mfn2 mitofusin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27997345 8731282 Mfn2 mitofusin 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:628843 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26123583|PMID:27997345|REF_RGD_ID:11053290|REF_RGD_ID:12910740 8731282 Mfn2 mitofusin 2 gene DOID:9002211 Hyperalgesia ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord (rat) PMID:28587902|REF_RGD_ID:12910704 8731282 Mfn2 mitofusin 2 gene DOID:9002211 Hyperalgesia ISO RGD:732569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28587902 8731282 Mfn2 mitofusin 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:heart (rat) PMID:26692091|REF_RGD_ID:11557238 8731282 Mfn2 mitofusin 2 gene DOID:9003936 Cardiomegaly ISO RGD:628843 D RGD:9068941 20200609 RGD associated with Hypertension:protein:decreased expression:heart (rat) PMID:27085127|REF_RGD_ID:12910835 8731282 Mfn2 mitofusin 2 gene DOID:9003936 Cardiomegaly ISO RGD:732569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17499311 8731282 Mfn2 mitofusin 2 gene DOID:9003936 Cardiomegaly ISO RGD:732570 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart (mouse) PMID:27565029|REF_RGD_ID:12910768 8731282 Mfn2 mitofusin 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:27847271|REF_RGD_ID:12910764 8731282 Mfn2 mitofusin 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:732570 D RGD:9068941 20200609 RGD PMID:28503736|REF_RGD_ID:12910714 8731282 Mfn2 mitofusin 2 gene DOID:9003984 Hyperpigmentation ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperpigmentation PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 8731282 Mfn2 mitofusin 2 gene DOID:9004484 Sepsis ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:24720571|REF_RGD_ID:13204837 8731282 Mfn2 mitofusin 2 gene DOID:9004551 Charcot-Marie-Tooth Disease Type 2A2 ISO RGD:732569 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15136675|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23733358|PMID:23781337|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26147798|PMID:26230519|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26801520|PMID:26955893|PMID:26968460|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35938991|PMID:8406488|PMID:9409358 8731282 Mfn2 mitofusin 2 gene DOID:9004610 Acute Lung Injury ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:25560372|REF_RGD_ID:12437080 8731282 Mfn2 mitofusin 2 gene DOID:9004739 Cicatrix ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Scarring PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 8731282 Mfn2 mitofusin 2 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:23517027|REF_RGD_ID:12738217 8731282 Mfn2 mitofusin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:heart, mitochondrion (rat) PMID:27998959|REF_RGD_ID:12910739 8731282 Mfn2 mitofusin 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:28483572|REF_RGD_ID:12910731 8731282 Mfn2 mitofusin 2 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung (rat) PMID:26485208|REF_RGD_ID:12910856 8731282 Mfn2 mitofusin 2 gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:27491814|REF_RGD_ID:12910831 8731282 Mfn2 mitofusin 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:732569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 8731282 Mfn2 mitofusin 2 gene DOID:9007661 Dwarfism ISO RGD:732569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short stature PMID:15064763|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991 8731282 Mfn2 mitofusin 2 gene DOID:9007692 Insulin Resistance treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:24715199|REF_RGD_ID:13204838 8731282 Mfn2 mitofusin 2 gene DOID:9007697 Charcot-Marie-Tooth Disease Type 6A ISO RGD:732569 D RGD:7240710 20190911 OMIM 8731282 Mfn2 mitofusin 2 gene DOID:9007697 Charcot-Marie-Tooth Disease Type 6A ISO RGD:732569 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A | ClinVar Annotator: match by term: HMSN VIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY PMID:10732809|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20951041|PMID:21149811|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21531138|PMID:21576112|PMID:21715711|PMID:21772703|PMID:21840889|PMID:22442078|PMID:22492563|PMID:22494076|PMID:23456260|PMID:23781337|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26230519|PMID:26307494|PMID:26316991|PMID:26382835|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26955893|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27863451|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29266326|PMID:29358271|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30659145|PMID:30882371|PMID:31186069|PMID:31211173|PMID:31372974|PMID:31640251|PMID:31673878|PMID:31832804|PMID:33415332|PMID:33502018|PMID:34103343|PMID:35418194|PMID:9409358 8731282 Mfn2 mitofusin 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:628843 D RGD:9068941 20200609 RGD PMID:24721408|REF_RGD_ID:13204835 8731282 Mfn2 mitofusin 2 gene DOID:9008086 Developmental Disabilities ISO RGD:732569 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16714318|PMID:16835246|PMID:21715711|PMID:23781337|PMID:26955893|PMID:28492532 8731282 Mfn2 mitofusin 2 gene DOID:9008563 Charcot-Marie-Tooth Disease, Type 2A ISO RGD:732569 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A | ClinVar Annotator: match by term: HMSN IIA PMID:16043786|PMID:18316077|PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:28251916|PMID:28414270|PMID:28492532|PMID:29358271|PMID:30158064|PMID:33415332|PMID:33502018 8731282 Mfn2 mitofusin 2 gene DOID:9008824 Sarcopenia ISO RGD:628843 D RGD:9068941 20200609 RGD protein:increased expression:extensor digitorum longus (rat) PMID:23220115|REF_RGD_ID:12738219 8731282 Mfn2 mitofusin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732569 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle tissue (human) PMID:16123358|REF_RGD_ID:13204820 8731282 Mfn2 mitofusin 2 gene DOID:9452 steatotic liver disease ISO RGD:628843 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:24663492|REF_RGD_ID:12453042 8731282 Mfn2 mitofusin 2 gene DOID:9970 obesity ISO RGD:628843 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25336449|REF_RGD_ID:12880438 8731282 Mfn2 mitofusin 2 gene DOID:9970 obesity ISO RGD:732569 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle tissue (human) PMID:12598526|REF_RGD_ID:1601412 8731328 Dnajc27 DnaJ heat shock protein family (Hsp40) member C27 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 8731328 Dnajc27 DnaJ heat shock protein family (Hsp40) member C27 gene DOID:630 genetic disease ISO RGD:1602712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731343 Wfdc2 WAP four-disulfide core domain 2 gene DOID:2234 focal epilepsy ISO RGD:1344525 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8731343 Wfdc2 WAP four-disulfide core domain 2 gene DOID:630 genetic disease ISO RGD:1344525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731343 Wfdc2 WAP four-disulfide core domain 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1344525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8731343 Wfdc2 WAP four-disulfide core domain 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8731356 Gcsh glycine cleavage system protein H gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1348453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 8731356 Gcsh glycine cleavage system protein H gene DOID:630 genetic disease ISO RGD:1348453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8731356 Gcsh glycine cleavage system protein H gene DOID:9007868 Multiple Mitochondrial Dysfunctions Syndrome 7 ISO RGD:1348453 D RGD:7240710 20230712 OMIM 8731356 Gcsh glycine cleavage system protein H gene DOID:9007868 Multiple Mitochondrial Dysfunctions Syndrome 7 ISO RGD:1348453 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 7 PMID:25741868|PMID:28492532|PMID:33890291|PMID:36190515 8731356 Gcsh glycine cleavage system protein H gene DOID:9252 amino acid metabolic disorder ISO RGD:1348453 D RGD:9068941 20200609 RGD protein:decreased activity:liver: PMID:7070876|REF_RGD_ID:12904659 8731356 Gcsh glycine cleavage system protein H gene DOID:9268 glycine encephalopathy ISO RGD:1348453 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:12402263|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33890291|PMID:36190515|PMID:9536098 8731364 Acly ATP citrate lyase gene DOID:6000 congestive heart failure ISO RGD:10065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8731364 Acly ATP citrate lyase gene DOID:630 genetic disease ISO RGD:10065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731364 Acly ATP citrate lyase gene DOID:684 hepatocellular carcinoma ISO RGD:10065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 8731364 Acly ATP citrate lyase gene DOID:9970 obesity ISO RGD:10065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8731399 Plppr1 phospholipid phosphatase related 1 gene DOID:630 genetic disease ISO RGD:1603210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731415 Slc13a1 solute carrier family 13 member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8731415 Slc13a1 solute carrier family 13 member 1 gene DOID:630 genetic disease ISO RGD:1346909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731435 Phf21a PHD finger protein 21A gene DOID:0050444 infantile Refsum disease ISO RGD:1354499 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8731435 Phf21a PHD finger protein 21A gene DOID:0060041 autism spectrum disorder ISO RGD:1354499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8731435 Phf21a PHD finger protein 21A gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1354499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8731435 Phf21a PHD finger protein 21A gene DOID:1059 intellectual disability ISO RGD:1354499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30487643|PMID:31649809 8731435 Phf21a PHD finger protein 21A gene DOID:4001 ovarian carcinoma ISO RGD:1354499 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 8731435 Phf21a PHD finger protein 21A gene DOID:630 genetic disease ISO RGD:1354499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8731435 Phf21a PHD finger protein 21A gene DOID:9004521 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures ISO RGD:1354499 D RGD:7240710 20200226 OMIM 8731435 Phf21a PHD finger protein 21A gene DOID:9004521 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures ISO RGD:1354499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | ClinVar Annotator: match by term: PHF21A-related condition PMID:25741868|PMID:28492532|PMID:30487643|PMID:31649809 8731435 Phf21a PHD finger protein 21A gene DOID:905 Zellweger syndrome ISO RGD:1354499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8731492 B4galt2 beta-1,4-galactosyltransferase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 8731492 B4galt2 beta-1,4-galactosyltransferase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8731492 B4galt2 beta-1,4-galactosyltransferase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 8731492 B4galt2 beta-1,4-galactosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1313336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731511 Mfap1 microfibril associated protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1321226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8731511 Mfap1 microfibril associated protein 1 gene DOID:630 genetic disease ISO RGD:1321226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731511 Mfap1 microfibril associated protein 1 gene DOID:9256 colorectal cancer ISO RGD:1321226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8731524 Znf593 zinc finger protein 593 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1320928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8731524 Znf593 zinc finger protein 593 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1320928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8731524 Znf593 zinc finger protein 593 gene DOID:630 genetic disease ISO RGD:1320928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731524 Znf593 zinc finger protein 593 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8731524 Znf593 zinc finger protein 593 gene DOID:9000918 Disease Progression ISO RGD:1320928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8731531 Bin3 bridging integrator 3 gene DOID:630 genetic disease ISO RGD:1317921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731531 Bin3 bridging integrator 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8731544 Aplnr apelin receptor gene DOID:1059 intellectual disability ISO RGD:733537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8731544 Aplnr apelin receptor gene DOID:630 genetic disease ISO RGD:733537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731544 Aplnr apelin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:733538 D RGD:9068941 20200609 RGD protein:decreased expression:renal artery PMID:17692936|REF_RGD_ID:2313945 8731555 Laptm4b lysosomal protein transmembrane 4 beta gene DOID:630 genetic disease ISO RGD:1323527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731571 Nkd1 NKD inhibitor of WNT signaling pathway 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1318289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 8731571 Nkd1 NKD inhibitor of WNT signaling pathway 1 gene DOID:630 genetic disease ISO RGD:1318289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731585 Znf831 zinc finger protein 831 gene DOID:0080600 COVID-19 ISO RGD:1316121 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8731585 Znf831 zinc finger protein 831 gene DOID:1909 melanoma ISO RGD:1316121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 8731585 Znf831 zinc finger protein 831 gene DOID:630 genetic disease ISO RGD:1316121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731598 Glb1l galactosidase beta 1 like gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8731598 Glb1l galactosidase beta 1 like gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8731598 Glb1l galactosidase beta 1 like gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8731598 Glb1l galactosidase beta 1 like gene DOID:1148 polydactyly ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8731598 Glb1l galactosidase beta 1 like gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8731598 Glb1l galactosidase beta 1 like gene DOID:630 genetic disease ISO RGD:1319832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731598 Glb1l galactosidase beta 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8731640 Psmg3 proteasome assembly chaperone 3 gene DOID:630 genetic disease ISO RGD:1601948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731647 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8731647 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8731647 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1314818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8731647 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8731647 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8731647 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1314818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8731647 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:3652 Leigh disease ISO RGD:1314818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8731647 Vav2 vav guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1314818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731686 Tnik TRAF2 and NCK interacting kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1561817 D RGD:9068941 20220204 RGD mRNA:increased expression:colon (human) PMID:22242189|REF_RGD_ID:151347836 8731686 Tnik TRAF2 and NCK interacting kinase gene DOID:0080521 lung non-squamous non-small cell carcinoma ameliorates ISO RGD:1346178 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:lung (human) PMID:25250715|REF_RGD_ID:151347838 8731686 Tnik TRAF2 and NCK interacting kinase gene DOID:0081216 autosomal recessive intellectual developmental disorder 54 ISO RGD:1346178 D RGD:7240710 20190315 OMIM 8731686 Tnik TRAF2 and NCK interacting kinase gene DOID:0081216 autosomal recessive intellectual developmental disorder 54 ISO RGD:1346178 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 54 PMID:25741868|PMID:27106596|PMID:28492532 8731686 Tnik TRAF2 and NCK interacting kinase gene DOID:1062 Fanconi syndrome ISO RGD:1346178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8731686 Tnik TRAF2 and NCK interacting kinase gene DOID:37 skin disease ISO RGD:1346178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8731686 Tnik TRAF2 and NCK interacting kinase gene DOID:630 genetic disease ISO RGD:1346178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731686 Tnik TRAF2 and NCK interacting kinase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8731686 Tnik TRAF2 and NCK interacting kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346178 D RGD:9068941 20220204 RGD protein:increased phosphorylation:liver, nucleus (human) PMID:25160513|REF_RGD_ID:151347837 8731686 Tnik TRAF2 and NCK interacting kinase gene DOID:9007964 Arsenic Poisoning ISO RGD:1346178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8731686 Tnik TRAF2 and NCK interacting kinase gene DOID:9256 colorectal cancer ameliorates ISO RGD:1558507 D RGD:9068941 20220204 RGD PMID:27562646|REF_RGD_ID:151347682 8731686 Tnik TRAF2 and NCK interacting kinase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1346178 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:26499327|REF_RGD_ID:11530847 8731730 Flvcr2 FLVCR choline and putative heme transporter 2 gene DOID:0080600 COVID-19 ISO RGD:1352163 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8731730 Flvcr2 FLVCR choline and putative heme transporter 2 gene DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome ISO RGD:1352163 D RGD:7240710 20180130 OMIM 8731730 Flvcr2 FLVCR choline and putative heme transporter 2 gene DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome ISO RGD:1352163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fowler syndrome | ClinVar Annotator: match by term: HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY | ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome PMID:19635601|PMID:20206334|PMID:20518025|PMID:20690116|PMID:24033266|PMID:25677735|PMID:25741868|PMID:28492532|PMID:32369449 8731730 Flvcr2 FLVCR choline and putative heme transporter 2 gene DOID:1059 intellectual disability ISO RGD:1352163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8731730 Flvcr2 FLVCR choline and putative heme transporter 2 gene DOID:630 genetic disease ISO RGD:1352163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33981013 8731730 Flvcr2 FLVCR choline and putative heme transporter 2 gene DOID:9008679 Posterior Column Ataxia with Retinitis Pigmentosa ISO RGD:1352163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa PMID:20206334|PMID:20518025|PMID:25741868|PMID:28492532 8731753 Cntn6 contactin 6 gene DOID:0060041 autism spectrum disorder ISO RGD:733383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23872404|PMID:25606055|PMID:25741868|PMID:26257835|PMID:30826922 8731753 Cntn6 contactin 6 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8731753 Cntn6 contactin 6 gene DOID:12849 autistic disorder ISO RGD:733383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 8731753 Cntn6 contactin 6 gene DOID:5419 schizophrenia ISO RGD:733383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8731753 Cntn6 contactin 6 gene DOID:630 genetic disease ISO RGD:733383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731753 Cntn6 contactin 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8731782 Gpn2 GPN-loop GTPase 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1603309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8731782 Gpn2 GPN-loop GTPase 2 gene DOID:630 genetic disease ISO RGD:1603309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731791 CUNH1orf198 chromosome unknown C1orf198 homolog gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1602995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 8731791 CUNH1orf198 chromosome unknown C1orf198 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1602995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8731791 CUNH1orf198 chromosome unknown C1orf198 homolog gene DOID:630 genetic disease ISO RGD:1602995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731791 CUNH1orf198 chromosome unknown C1orf198 homolog gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1602995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8731791 CUNH1orf198 chromosome unknown C1orf198 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0050777 Joubert syndrome ISO RGD:1348587 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:9536098 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0050777 Joubert syndrome ISO RGD:1348587 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16783569|PMID:18546297|PMID:25741868|PMID:27081566|PMID:28492532 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:7240710 20180130 OMIM 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome I PMID:11179005|PMID:11950863|PMID:12595504|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24884629|PMID:25741868|PMID:26275793|PMID:26467025|PMID:27081566|PMID:28492532|PMID:28973083|PMID:9198060|PMID:9482645|PMID:9536098 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0060373 orofaciodigital syndrome III ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0080205 CAKUT ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 ISO RGD:1348587 D RGD:7240710 20180130 OMIM 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 2 PMID:11179005|PMID:12595504|PMID:16783569|PMID:19800048|PMID:22353940|PMID:23033313|PMID:25741868|PMID:28492532|PMID:30401917|PMID:33847015|PMID:35112477 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked PMID:11326333|PMID:11349230|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0080918 polymicrogyria ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0110412 retinitis pigmentosa 23 ISO RGD:1348587 D RGD:7240710 20180130 OMIM 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0110412 retinitis pigmentosa 23 ISO RGD:1348587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 23 PMID:10892847|PMID:22619378|PMID:25741868|PMID:28492532|PMID:35112477 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1348587 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:10999831|PMID:25741868|PMID:9990351 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:11179005|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25741868|PMID:26092869|PMID:26467025|PMID:27081566|PMID:28289185|PMID:28492532|PMID:9536098 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348587 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:11179005|PMID:11349230|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25674159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28289185|PMID:28371265|PMID:28492532|PMID:30401917|PMID:35112477|PMID:9536098 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348587 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:11179005|PMID:11349230|PMID:12595504|PMID:16199547|PMID:16311594|PMID:16783569|PMID:17576681|PMID:18414213|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24476948|PMID:24884629|PMID:25674159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28289185|PMID:28371265|PMID:28492532|PMID:28831199|PMID:29843741|PMID:30401917|PMID:35112477|PMID:35728977|PMID:9536098 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0110981 Joubert syndrome 10 ISO RGD:1348587 D RGD:7240710 20180130 OMIM 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0110981 Joubert syndrome 10 ISO RGD:1348587 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Joubert syndrome 10 PMID:16783569|PMID:18546297|PMID:19800048|PMID:22353940|PMID:23033313|PMID:24884629|PMID:25741868|PMID:26092869|PMID:27081566|PMID:28492532|PMID:30401917|PMID:35112477|PMID:35728977 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0111589 COACH syndrome ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COACH syndrome PMID:16783569|PMID:18546297|PMID:27081566|PMID:28492532 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1348587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16783569 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:0112284 spondyloepiphyseal dysplasia tarda ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda PMID:10431248|PMID:10999831|PMID:11326333|PMID:11424925|PMID:12919139|PMID:15221797|PMID:17576681|PMID:18414213|PMID:22563562|PMID:23656395|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098|PMID:9990351 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:10584 retinitis pigmentosa ISO RGD:1348587 D RGD:9068941 20200609 RGD DNA, mRNA:frameshift mutation, splice variant:IVS9+706A>G (human) PMID:22619378|REF_RGD_ID:11535961 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:1059 intellectual disability ISO RGD:1348587 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:12849 autistic disorder ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:630 genetic disease ISO RGD:1348587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326333|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:65 connective tissue disease ISO RGD:1348587 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11424925|PMID:25741868 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:8466 retinal degeneration ISO RGD:1562231 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:27196396|REF_RGD_ID:11535964 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:8501 fundus dystrophy ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:25741868 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:9007284 Precocious Puberty ISO RGD:1348587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 8731795 Ofd1 OFD1 centriole and centriolar satellite protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348587 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:11179005|PMID:12595504|PMID:16783569|PMID:18414213|PMID:18546297|PMID:25741868|PMID:26467025|PMID:26477546|PMID:27081566|PMID:28492532|PMID:31373179|PMID:35728977 8731827 Tep1 telomerase associated protein 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:736009 D RGD:9068941 20220602 RGD DNA:SNPs:introns:rs1713423,rs1760893(human) PMID:27305982|REF_RGD_ID:152977750 8731827 Tep1 telomerase associated protein 1 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:736009 D RGD:9068941 20220602 RGD mRNA:increased expression:hepatocyte,biliary epithelium. PMID:10498642|REF_RGD_ID:152977753 8731827 Tep1 telomerase associated protein 1 gene DOID:630 genetic disease ISO RGD:736009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731827 Tep1 telomerase associated protein 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736009 D RGD:9068941 20220602 RGD associated with hepatitis B;DNA:SNPs: :rs1713449,rs1760898, rs872072 (human) PMID:23907815|REF_RGD_ID:152975963 8731827 Tep1 telomerase associated protein 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736009 D RGD:9068941 20220602 RGD DNA:SNP:intron:rs1760893(human) PMID:27305982|REF_RGD_ID:152977750 8731827 Tep1 telomerase associated protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11323394 8731910 Ephx4 epoxide hydrolase 4 gene DOID:630 genetic disease ISO RGD:1318921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731927 Sft2d3 SFT2 domain containing 3 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1603003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8731927 Sft2d3 SFT2 domain containing 3 gene DOID:630 genetic disease ISO RGD:1603003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731939 Srp72 signal recognition particle 72 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1314481 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 8731939 Srp72 signal recognition particle 72 gene DOID:13580 cholestasis ISO RGD:1314481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8731939 Srp72 signal recognition particle 72 gene DOID:630 genetic disease ISO RGD:1314481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8731939 Srp72 signal recognition particle 72 gene DOID:9001587 Bone Marrow Failure Syndrome 1 ISO RGD:1314481 D RGD:7240710 20180130 OMIM 8731939 Srp72 signal recognition particle 72 gene DOID:9001587 Bone Marrow Failure Syndrome 1 ISO RGD:1314481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition PMID:22541560|PMID:25741868|PMID:28492532 8731939 Srp72 signal recognition particle 72 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:1314481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8731939 Srp72 signal recognition particle 72 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8731970 Akirin2 akirin 2 gene DOID:630 genetic disease ISO RGD:1317188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8731970 Akirin2 akirin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1307791 D RGD:9068941 20200609 RGD PMID:18460465|REF_RGD_ID:2306009 8731983 Cpeb4 cytoplasmic polyadenylation element binding protein 4 gene DOID:10762 portal hypertension ISO RGD:1323642 D RGD:9068941 20200609 RGD protein:increased expression:mesentary PMID:26627607|REF_RGD_ID:11528851 8731983 Cpeb4 cytoplasmic polyadenylation element binding protein 4 gene DOID:10762 portal hypertension treatment ISO RGD:1323643 D RGD:9068941 20200609 RGD PMID:26627607|REF_RGD_ID:11528851 8731983 Cpeb4 cytoplasmic polyadenylation element binding protein 4 gene DOID:12236 primary biliary cholangitis ISO RGD:1323642 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 8731983 Cpeb4 cytoplasmic polyadenylation element binding protein 4 gene DOID:5082 liver cirrhosis ISO RGD:1323642 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 8731983 Cpeb4 cytoplasmic polyadenylation element binding protein 4 gene DOID:630 genetic disease ISO RGD:1323642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732003 Bpifb3 BPI fold containing family B member 3 gene DOID:630 genetic disease ISO RGD:1604466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732028 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:1059 intellectual disability ISO RGD:1347603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8732028 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8732028 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:2746 glycogen storage disease V ISO RGD:1347603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8732028 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:3070 high grade glioma ISO RGD:1347603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8732028 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:630 genetic disease ISO RGD:1347603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732028 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1347603 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8732028 Map3k11 mitogen-activated protein kinase kinase kinase 11 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1347603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8732058 Tmem220 transmembrane protein 220 gene DOID:630 genetic disease ISO RGD:1604450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732067 Dusp3 dual specificity phosphatase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 8732067 Dusp3 dual specificity phosphatase 3 gene DOID:630 genetic disease ISO RGD:1345861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732073 Dnajc15 DnaJ heat shock protein family (Hsp40) member C15 gene DOID:1909 melanoma ISO RGD:1316177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 8732073 Dnajc15 DnaJ heat shock protein family (Hsp40) member C15 gene DOID:630 genetic disease ISO RGD:1316177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732096 Aamdc adipogenesis associated Mth938 domain containing gene DOID:1059 intellectual disability ISO RGD:1603054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8732096 Aamdc adipogenesis associated Mth938 domain containing gene DOID:630 genetic disease ISO RGD:1603054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732119 Cd24 CD24 molecule gene DOID:1793 pancreatic cancer ISO RGD:736340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369074 8732119 Cd24 CD24 molecule gene DOID:2377 multiple sclerosis ISO RGD:736340 D RGD:9068941 20200609 RGD PMID:14657362|REF_RGD_ID:1358462 8732119 Cd24 CD24 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8732125 Otor otoraplin gene DOID:630 genetic disease ISO RGD:1313174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732133 Dnlz DNL-type zinc finger gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8732133 Dnlz DNL-type zinc finger gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:2289758 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8732133 Dnlz DNL-type zinc finger gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:2289758 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8732133 Dnlz DNL-type zinc finger gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8732133 Dnlz DNL-type zinc finger gene DOID:0080324 tuberous sclerosis 1 ISO RGD:2289758 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8732133 Dnlz DNL-type zinc finger gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:2289758 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8732133 Dnlz DNL-type zinc finger gene DOID:0081097 Rafiq syndrome ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8732133 Dnlz DNL-type zinc finger gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289758 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8732133 Dnlz DNL-type zinc finger gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8732133 Dnlz DNL-type zinc finger gene DOID:3652 Leigh disease ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8732133 Dnlz DNL-type zinc finger gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:2289758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8732142 Cldn34 claudin 34 gene DOID:12849 autistic disorder ISO RGD:9837188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8732142 Cldn34 claudin 34 gene DOID:630 genetic disease ISO RGD:9837188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732158 Nudt8 nudix hydrolase 8 gene DOID:1059 intellectual disability ISO RGD:1319158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8732158 Nudt8 nudix hydrolase 8 gene DOID:630 genetic disease ISO RGD:1319158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732158 Nudt8 nudix hydrolase 8 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319158 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8732158 Nudt8 nudix hydrolase 8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1622851 D RGD:9068941 20220825 MouseDO 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25205402|PMID:25741868|PMID:28505103 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1320604 D RGD:7240710 20190315 OMIM 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1320604 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AUTS2-related condition | ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26 PMID:21680558|PMID:21681106|PMID:22872102|PMID:23332918|PMID:25205402|PMID:25741868|PMID:25741869|PMID:27075013|PMID:28492532|PMID:31785789|PMID:33562463|PMID:35032046 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:0080600 COVID-19 ISO RGD:1320604 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:1059 intellectual disability ISO RGD:1320604 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25205402|PMID:25741868|PMID:27075013|PMID:28492532|PMID:29758562 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:12849 autistic disorder ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25205402|PMID:25741868|PMID:28505103 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:1826 epilepsy ISO RGD:1320604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20502679 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pierre Robin-like syndrome 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:630 genetic disease ISO RGD:1320604 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25533962|PMID:25741868|PMID:27075013|PMID:28191890|PMID:28492532|PMID:33562463|PMID:35032046|PMID:9536098 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320604 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:28492532|PMID:33562463|PMID:35032046 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9008086 Developmental Disabilities ISO RGD:1320604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9008582 Developmental Disease ISO RGD:1320604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1320604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 PMID:25205402|PMID:25741868|PMID:27075013|PMID:28492532|PMID:31785789 8732173 Auts2 activator of transcription and developmental regulator AUTS2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 8732197 Matcap1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:2302259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8732197 Matcap1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:0080600 COVID-19 ISO RGD:2302259 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8732197 Matcap1 microtubule associated tyrosine carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:2302259 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732225 Cd40lg CD40 ligand gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 8732225 Cd40lg CD40 ligand gene DOID:0050175 tick-borne encephalitis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16463218|REF_RGD_ID:11352252 8732225 Cd40lg CD40 ligand gene DOID:0050185 erythema multiforme ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 8732225 Cd40lg CD40 ligand gene DOID:0050731 vitamin B12 deficiency treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:16716410|REF_RGD_ID:2313422 8732225 Cd40lg CD40 ligand gene DOID:0050873 follicular lymphoma ISO RGD:1352959 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25582824|REF_RGD_ID:11344981 8732225 Cd40lg CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352959 D RGD:7240710 20180130 OMIM 8732225 Cd40lg CD40 ligand gene DOID:0060022 CD40 ligand deficiency ISO RGD:1352959 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM PMID:25741868 8732225 Cd40lg CD40 ligand gene DOID:0060022 CD40 ligand deficiency disease_progression ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:21841160|REF_RGD_ID:5490298 8732225 Cd40lg CD40 ligand gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8732225 Cd40lg CD40 ligand gene DOID:0060825 Christianson syndrome ISO RGD:1352959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8732225 Cd40lg CD40 ligand gene DOID:0060903 thrombosis ISO RGD:1615151 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:21914625|REF_RGD_ID:5490522 8732225 Cd40lg CD40 ligand gene DOID:0060903 thrombosis susceptibility ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:15306157|REF_RGD_ID:11352250 8732225 Cd40lg CD40 ligand gene DOID:0060903 thrombosis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:27085896|REF_RGD_ID:11344959 8732225 Cd40lg CD40 ligand gene DOID:0070355 overactive bladder syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19784793|REF_RGD_ID:7248423 8732225 Cd40lg CD40 ligand gene DOID:0080162 lupus nephritis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20726330|REF_RGD_ID:7248426 8732225 Cd40lg CD40 ligand gene DOID:0080162 lupus nephritis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11751940|REF_RGD_ID:7248714 8732225 Cd40lg CD40 ligand gene DOID:0080162 lupus nephritis treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:12632425|PMID:15693003|REF_RGD_ID:7248439|REF_RGD_ID:7248710 8732225 Cd40lg CD40 ligand gene DOID:0080162 lupus nephritis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:13130474|REF_RGD_ID:7248600 8732225 Cd40lg CD40 ligand gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:1615151 D RGD:9068941 20200626 RGD PMID:30911758|REF_RGD_ID:32716379 8732225 Cd40lg CD40 ligand gene DOID:0081267 graft-versus-host disease ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:12970789|REF_RGD_ID:11352269 8732225 Cd40lg CD40 ligand gene DOID:10223 dermatomyositis ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 8732225 Cd40lg CD40 ligand gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9450802|REF_RGD_ID:11522717 8732225 Cd40lg CD40 ligand gene DOID:10591 pre-eclampsia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:blood platelet (human) PMID:23241952|REF_RGD_ID:11522719 8732225 Cd40lg CD40 ligand gene DOID:10591 pre-eclampsia treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:26310940|REF_RGD_ID:11056772 8732225 Cd40lg CD40 ligand gene DOID:10652 Alzheimer's disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, astrocyte PMID:11755016|REF_RGD_ID:8547803 8732225 Cd40lg CD40 ligand gene DOID:10652 Alzheimer's disease ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11755016|REF_RGD_ID:8547803 8732225 Cd40lg CD40 ligand gene DOID:10923 sickle cell anemia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:24368019|REF_RGD_ID:11352270 8732225 Cd40lg CD40 ligand gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:7564113|REF_RGD_ID:7248720 8732225 Cd40lg CD40 ligand gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:17911451|REF_RGD_ID:7248430 8732225 Cd40lg CD40 ligand gene DOID:1100 ovarian disease treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases PMID:12574329|REF_RGD_ID:11531132 8732225 Cd40lg CD40 ligand gene DOID:11054 urinary bladder cancer treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:16361570|REF_RGD_ID:7248437 8732225 Cd40lg CD40 ligand gene DOID:1168 familial hyperlipidemia ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:21485068|REF_RGD_ID:5490594 8732225 Cd40lg CD40 ligand gene DOID:11702 dysgammaglobulinemia ISO RGD:1352959 D RGD:9068941 20200609 RGD Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230 PMID:7678782|REF_RGD_ID:1599480 8732225 Cd40lg CD40 ligand gene DOID:11713 diabetic angiopathy ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14963650|REF_RGD_ID:2314223 8732225 Cd40lg CD40 ligand gene DOID:1205 allergic disease ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8732225 Cd40lg CD40 ligand gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:21411717|REF_RGD_ID:5490596 8732225 Cd40lg CD40 ligand gene DOID:12134 factor VIII deficiency treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11776297|REF_RGD_ID:11352263 8732225 Cd40lg CD40 ligand gene DOID:12177 common variable immunodeficiency ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:25741868 8732225 Cd40lg CD40 ligand gene DOID:12361 Graves' disease treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:8875745|REF_RGD_ID:8547747 8732225 Cd40lg CD40 ligand gene DOID:12365 malaria severity ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11485931|REF_RGD_ID:11352239 8732225 Cd40lg CD40 ligand gene DOID:12449 aplastic anemia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:22537155|REF_RGD_ID:11352267 8732225 Cd40lg CD40 ligand gene DOID:12849 autistic disorder ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8732225 Cd40lg CD40 ligand gene DOID:1287 cardiovascular system disease ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:17314326|REF_RGD_ID:7248433 8732225 Cd40lg CD40 ligand gene DOID:1287 cardiovascular system disease severity ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;protein:increased expression:plasma PMID:21303961|REF_RGD_ID:7248722 8732225 Cd40lg CD40 ligand gene DOID:12894 Sjogren's syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:salivary ductal epithelium (human) PMID:12472667|REF_RGD_ID:11520791 8732225 Cd40lg CD40 ligand gene DOID:13133 HELLP syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:blood platelet (human) PMID:23241952|REF_RGD_ID:11522719 8732225 Cd40lg CD40 ligand gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:14569091|REF_RGD_ID:7248599 8732225 Cd40lg CD40 ligand gene DOID:13241 Behcet's disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22116092|REF_RGD_ID:8547820 8732225 Cd40lg CD40 ligand gene DOID:13378 Kawasaki disease treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:12563087|REF_RGD_ID:11352236 8732225 Cd40lg CD40 ligand gene DOID:13922 eosinophilic esophagitis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21211656|REF_RGD_ID:5490306 8732225 Cd40lg CD40 ligand gene DOID:1485 cystic fibrosis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15102009|REF_RGD_ID:7248443 8732225 Cd40lg CD40 ligand gene DOID:1588 thrombocytopenia treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD associated with Malaria PMID:11865192|REF_RGD_ID:11352243 8732225 Cd40lg CD40 ligand gene DOID:1936 atherosclerosis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21817131|REF_RGD_ID:7248421 8732225 Cd40lg CD40 ligand gene DOID:1936 atherosclerosis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20705757|REF_RGD_ID:5490529 8732225 Cd40lg CD40 ligand gene DOID:1936 atherosclerosis ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:16317521|REF_RGD_ID:1582628 8732225 Cd40lg CD40 ligand gene DOID:1936 atherosclerosis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:26261622|REF_RGD_ID:11344965 8732225 Cd40lg CD40 ligand gene DOID:1936 atherosclerosis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:23984971|REF_RGD_ID:8547801 8732225 Cd40lg CD40 ligand gene DOID:2224 essential thrombocythemia ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22196954|REF_RGD_ID:11344979 8732225 Cd40lg CD40 ligand gene DOID:224 transient cerebral ischemia severity ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15795333|REF_RGD_ID:11352234 8732225 Cd40lg CD40 ligand gene DOID:2527 nephrosis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:19889873|REF_RGD_ID:7248422 8732225 Cd40lg CD40 ligand gene DOID:2841 asthma severity ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:9502776|REF_RGD_ID:11352238 8732225 Cd40lg CD40 ligand gene DOID:2988 antiphospholipid syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:16188945|REF_RGD_ID:11344980 8732225 Cd40lg CD40 ligand gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20348957 8732225 Cd40lg CD40 ligand gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20348957|REF_RGD_ID:5490547 8732225 Cd40lg CD40 ligand gene DOID:3388 periodontal disease ISO RGD:708418 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node, B cell, T cell PMID:20618701|REF_RGD_ID:5024938 8732225 Cd40lg CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16368305 8732225 Cd40lg CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:16494885|REF_RGD_ID:7248436 8732225 Cd40lg CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome;DNA:SNP: :rs4810485 (human) PMID:22645426|REF_RGD_ID:8547776 8732225 Cd40lg CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17635572|REF_RGD_ID:2314209 8732225 Cd40lg CD40 ligand gene DOID:3393 coronary artery disease ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery, serum PMID:23819214|REF_RGD_ID:7248750 8732225 Cd40lg CD40 ligand gene DOID:3407 carotid artery disease ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum PMID:16752185|REF_RGD_ID:2314211 8732225 Cd40lg CD40 ligand gene DOID:3407 carotid artery disease disease_progression ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet PMID:15817881|REF_RGD_ID:2314188 8732225 Cd40lg CD40 ligand gene DOID:417 autoimmune disease ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15494542 8732225 Cd40lg CD40 ligand gene DOID:417 autoimmune disease ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11535630|PMID:21414847|REF_RGD_ID:5490595|REF_RGD_ID:8547751 8732225 Cd40lg CD40 ligand gene DOID:4481 allergic rhinitis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte PMID:19086656|REF_RGD_ID:8547782 8732225 Cd40lg CD40 ligand gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:15458437|REF_RGD_ID:5508170 8732225 Cd40lg CD40 ligand gene DOID:5050 Ehrlich tumor carcinoma treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:19269163|REF_RGD_ID:11352683 8732225 Cd40lg CD40 ligand gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:21177803|REF_RGD_ID:5490598 8732225 Cd40lg CD40 ligand gene DOID:552 pneumonia ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8732225 Cd40lg CD40 ligand gene DOID:557 kidney disease treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:12969144|REF_RGD_ID:7248601 8732225 Cd40lg CD40 ligand gene DOID:5844 myocardial infarction ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17635572|REF_RGD_ID:2314209 8732225 Cd40lg CD40 ligand gene DOID:6000 congestive heart failure ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15716285|REF_RGD_ID:2314219 8732225 Cd40lg CD40 ligand gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:1352959 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.G219R (human) PMID:21543760|REF_RGD_ID:5490593 8732225 Cd40lg CD40 ligand gene DOID:630 genetic disease ISO RGD:1352959 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10366125|PMID:15358621|PMID:28492532|PMID:35753512|PMID:8094231 8732225 Cd40lg CD40 ligand gene DOID:635 acquired immunodeficiency syndrome treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:9499800|REF_RGD_ID:11344976 8732225 Cd40lg CD40 ligand gene DOID:6364 migraine ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21331754|REF_RGD_ID:5490597 8732225 Cd40lg CD40 ligand gene DOID:6432 pulmonary hypertension ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302794 8732225 Cd40lg CD40 ligand gene DOID:6432 pulmonary hypertension ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25998782|REF_RGD_ID:11344970 8732225 Cd40lg CD40 ligand gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1352959 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome PMID:10366125|PMID:10484640|PMID:10559240|PMID:10651941|PMID:11038461|PMID:11158612|PMID:11850600|PMID:1385114|PMID:1427881|PMID:14514918|PMID:14641931|PMID:15319456|PMID:15358621|PMID:15623492|PMID:15924140|PMID:16019685|PMID:16169277|PMID:16199547|PMID:16509032|PMID:17146684|PMID:17351759|PMID:17553565|PMID:17576681|PMID:18342287|PMID:18805740|PMID:18955577|PMID:19575287|PMID:20301576|PMID:20591076|PMID:20625427|PMID:20652909|PMID:20981468|PMID:21465648|PMID:21543760|PMID:22009004|PMID:22193914|PMID:22750225|PMID:22928961|PMID:22963373|PMID:23622016|PMID:23653974|PMID:24123890|PMID:24402618|PMID:24768948|PMID:24929972|PMID:25215306|PMID:25541662|PMID:25741868|PMID:26545377|PMID:26997321|PMID:27189378|PMID:27324886|PMID:27484504|PMID:28492532|PMID:28916186|PMID:29077208|PMID:29525420|PMID:30053428|PMID:30405923|PMID:31117086|PMID:31179555|PMID:31331973|PMID:32888943|PMID:33060515|PMID:34335625|PMID:35570134|PMID:35572607|PMID:35874699|PMID:36478253|PMID:7586644|PMID:7678782|PMID:7679206|PMID:7679801|PMID:7717401|PMID:7906987|PMID:7907793|PMID:7916370|PMID:8094231|PMID:8550833|PMID:8889581|PMID:9150729|PMID:9536098|PMID:9605317|PMID:9746782 8732225 Cd40lg CD40 ligand gene DOID:684 hepatocellular carcinoma ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:19016771|REF_RGD_ID:2313413 8732225 Cd40lg CD40 ligand gene DOID:783 end stage renal disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19019166|REF_RGD_ID:7248427 8732225 Cd40lg CD40 ligand gene DOID:809 cocaine abuse severity ISO RGD:1352959 D RGD:9068941 20230902 RGD PMID:21806491|REF_RGD_ID:401794583 8732225 Cd40lg CD40 ligand gene DOID:824 periodontitis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22523383|REF_RGD_ID:11352302 8732225 Cd40lg CD40 ligand gene DOID:8283 peritonitis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15780086|REF_RGD_ID:7248438 8732225 Cd40lg CD40 ligand gene DOID:8566 herpes simplex ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:11134274|REF_RGD_ID:8547770 8732225 Cd40lg CD40 ligand gene DOID:8567 Hodgkin's lymphoma ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7621881|PMID:8656679 8732225 Cd40lg CD40 ligand gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:708418 D RGD:9068941 20200609 RGD protein:decreased expression:ileum PMID:21240009|REF_RGD_ID:5490305 8732225 Cd40lg CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:16188945|REF_RGD_ID:11344980 8732225 Cd40lg CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, T lymphocyte (human) PMID:17654056|REF_RGD_ID:11344977 8732225 Cd40lg CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1615151 D RGD:9068941 20200609 RGD protein:decreased expression:serum (mouse) PMID:22537155|REF_RGD_ID:11352267 8732225 Cd40lg CD40 ligand gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18341638|REF_RGD_ID:11352237 8732225 Cd40lg CD40 ligand gene DOID:8986 narcolepsy ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:21669245|REF_RGD_ID:11352261 8732225 Cd40lg CD40 ligand gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:19914091|PMID:9721703|REF_RGD_ID:13702885|REF_RGD_ID:13702888 8732225 Cd40lg CD40 ligand gene DOID:9000469 Viral Myocarditis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:11945021|REF_RGD_ID:13702886 8732225 Cd40lg CD40 ligand gene DOID:9000528 Coronary Disease treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:23819214|REF_RGD_ID:7248750 8732225 Cd40lg CD40 ligand gene DOID:9000656 Penetrating Wounds treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:25153915|REF_RGD_ID:11352274 8732225 Cd40lg CD40 ligand gene DOID:9000784 Fibrosis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:17823201|REF_RGD_ID:8547759 8732225 Cd40lg CD40 ligand gene DOID:9000808 Hypercholesterolemia ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:platelet (rat) PMID:21574786|REF_RGD_ID:7248754 8732225 Cd40lg CD40 ligand gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:18787388|REF_RGD_ID:7248428 8732225 Cd40lg CD40 ligand gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:26950185|REF_RGD_ID:11344960 8732225 Cd40lg CD40 ligand gene DOID:9000998 Brain Injuries ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:11755016|REF_RGD_ID:8547803 8732225 Cd40lg CD40 ligand gene DOID:9000998 Brain Injuries treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:25972624|REF_RGD_ID:11344972 8732225 Cd40lg CD40 ligand gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:19035311|REF_RGD_ID:5491179 8732225 Cd40lg CD40 ligand gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Anxiety Disorders;protein:increased expression:serum PMID:20170788|REF_RGD_ID:5490548 8732225 Cd40lg CD40 ligand gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:31624788|REF_RGD_ID:21081509 8732225 Cd40lg CD40 ligand gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:708418 D RGD:9068941 20200609 RGD liver PMID:22826618|REF_RGD_ID:11352297 8732225 Cd40lg CD40 ligand gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:serum PMID:18756582|REF_RGD_ID:2314208 8732225 Cd40lg CD40 ligand gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1352959 D RGD:9068941 20200609 RGD mouse-human chimeric gene in human PMID:20882050|REF_RGD_ID:11352235 8732225 Cd40lg CD40 ligand gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1615151 D RGD:9068941 20200609 RGD mouse-human chimeric gene in human PMID:20882050|REF_RGD_ID:11352235 8732225 Cd40lg CD40 ligand gene DOID:9002457 Experimental Arthritis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:7689748|REF_RGD_ID:11352696 8732225 Cd40lg CD40 ligand gene DOID:9002457 Experimental Arthritis ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:22611405|REF_RGD_ID:11352298 8732225 Cd40lg CD40 ligand gene DOID:9002457 Experimental Arthritis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:27218142|REF_RGD_ID:11344958 8732225 Cd40lg CD40 ligand gene DOID:9002549 Shock ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20490890|REF_RGD_ID:5490973 8732225 Cd40lg CD40 ligand gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20400704|REF_RGD_ID:4891397 8732225 Cd40lg CD40 ligand gene DOID:9002928 Colonic Neoplasms ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20378141|REF_RGD_ID:5490978 8732225 Cd40lg CD40 ligand gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1352959 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8732225 Cd40lg CD40 ligand gene DOID:9004009 Reperfusion Injury ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:20659085|REF_RGD_ID:5490531 8732225 Cd40lg CD40 ligand gene DOID:9004009 Reperfusion Injury ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:12388354|REF_RGD_ID:5508171 8732225 Cd40lg CD40 ligand gene DOID:9004203 Chromosome Breakage ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27634759 8732225 Cd40lg CD40 ligand gene DOID:9004283 Transplant Rejection ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:22948742|REF_RGD_ID:7248420 8732225 Cd40lg CD40 ligand gene DOID:9004283 Transplant Rejection ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:10949194|REF_RGD_ID:7248719 8732225 Cd40lg CD40 ligand gene DOID:9004283 Transplant Rejection treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15808676|REF_RGD_ID:8547783 8732225 Cd40lg CD40 ligand gene DOID:9004283 Transplant Rejection treatment ISO RGD:708418 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:15016184|REF_RGD_ID:7248598 8732225 Cd40lg CD40 ligand gene DOID:9004397 Calcification of Aortic Valve treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:24374105|REF_RGD_ID:11352276 8732225 Cd40lg CD40 ligand gene DOID:9004484 Sepsis ISO RGD:708418 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:20933523|REF_RGD_ID:11352671 8732225 Cd40lg CD40 ligand gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:platelet (rat) PMID:19237211|REF_RGD_ID:2312338 8732225 Cd40lg CD40 ligand gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:21831422|REF_RGD_ID:11352661 8732225 Cd40lg CD40 ligand gene DOID:9005749 Necrosis ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22295117 8732225 Cd40lg CD40 ligand gene DOID:9005837 Cholangiofibrosis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:23820408|REF_RGD_ID:11352285 8732225 Cd40lg CD40 ligand gene DOID:9006332 Vascular Calcification ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease PMID:16494885|REF_RGD_ID:7248436 8732225 Cd40lg CD40 ligand gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:8642687|REF_RGD_ID:11520796 8732225 Cd40lg CD40 ligand gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15972638|REF_RGD_ID:8547777 8732225 Cd40lg CD40 ligand gene DOID:9006646 Metabolic Syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:20006362|REF_RGD_ID:5490591 8732225 Cd40lg CD40 ligand gene DOID:9006646 Metabolic Syndrome ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16423632|REF_RGD_ID:2314214 8732225 Cd40lg CD40 ligand gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:17188497|REF_RGD_ID:5491181 8732225 Cd40lg CD40 ligand gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:12244161|REF_RGD_ID:7248713 8732225 Cd40lg CD40 ligand gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 8732225 Cd40lg CD40 ligand gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16463218|REF_RGD_ID:11352252 8732225 Cd40lg CD40 ligand gene DOID:9007102 Myocardial Ischemia ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:19204010|REF_RGD_ID:11352684 8732225 Cd40lg CD40 ligand gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:19565716|REF_RGD_ID:11352677 8732225 Cd40lg CD40 ligand gene DOID:9007110 Subacute Combined Degeneration ISO RGD:708418 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:16716410|REF_RGD_ID:2313422 8732225 Cd40lg CD40 ligand gene DOID:9007110 Subacute Combined Degeneration treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:16716410|REF_RGD_ID:2313422 8732225 Cd40lg CD40 ligand gene DOID:9007355 Hashimoto Disease ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17558708|REF_RGD_ID:8547767 8732225 Cd40lg CD40 ligand gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1352959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 8732225 Cd40lg CD40 ligand gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:11359850|REF_RGD_ID:8547800 8732225 Cd40lg CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1352959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28793932 8732225 Cd40lg CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20726330|REF_RGD_ID:7248426 8732225 Cd40lg CD40 ligand gene DOID:9074 systemic lupus erythematosus ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:9036998|REF_RGD_ID:11352248 8732225 Cd40lg CD40 ligand gene DOID:9146 visceral leishmaniasis ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:14573667|REF_RGD_ID:8547750 8732225 Cd40lg CD40 ligand gene DOID:9182 pemphigus ISO RGD:1352959 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin, serum PMID:17531537|REF_RGD_ID:8547773 8732225 Cd40lg CD40 ligand gene DOID:9201 lichen planus ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 8732225 Cd40lg CD40 ligand gene DOID:9351 diabetes mellitus ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with Coronary Arteriosclerosis, Myocardial Infarction; protein:increased expression:serum PMID:17635572|REF_RGD_ID:2314209 8732225 Cd40lg CD40 ligand gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352959 D RGD:9068941 20200609 RGD associated with non-alcoholic steatohepatitis;mRNA:increased expression:visceral abdominal adipose tissue PMID:19280268|REF_RGD_ID:5688143 8732225 Cd40lg CD40 ligand gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16423632|REF_RGD_ID:2314214 8732225 Cd40lg CD40 ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:27243341|REF_RGD_ID:11352268 8732225 Cd40lg CD40 ligand gene DOID:9538 multiple myeloma treatment ISO RGD:1352959 D RGD:9068941 20200609 RGD PMID:22403003|REF_RGD_ID:11352251 8732225 Cd40lg CD40 ligand gene DOID:9538 multiple myeloma treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15565183|REF_RGD_ID:11352240 8732225 Cd40lg CD40 ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16505242|REF_RGD_ID:2314212 8732225 Cd40lg CD40 ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:15448088|REF_RGD_ID:2314220 8732225 Cd40lg CD40 ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:16611325|REF_RGD_ID:5491182 8732225 Cd40lg CD40 ligand gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:26716812|REF_RGD_ID:11344963 8732225 Cd40lg CD40 ligand gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:708418 D RGD:9068941 20200609 RGD PMID:12419284|REF_RGD_ID:8547798 8732225 Cd40lg CD40 ligand gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:9292526|REF_RGD_ID:11352271 8732225 Cd40lg CD40 ligand gene DOID:9970 obesity ISO RGD:1352959 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20660932|REF_RGD_ID:5490970 8732225 Cd40lg CD40 ligand gene DOID:9970 obesity ISO RGD:1615151 D RGD:9068941 20200609 RGD PMID:21817098|REF_RGD_ID:5490592 8732234 Znf423 zinc finger protein 423 gene DOID:0111122 nephronophthisis 14 ISO RGD:1344492 D RGD:7240710 20180130 OMIM 8732234 Znf423 zinc finger protein 423 gene DOID:0111122 nephronophthisis 14 ISO RGD:1344492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 19 | ClinVar Annotator: match by term: Nephronophthisis 14 | ClinVar Annotator: match by term: ZNF423-related condition PMID:17576681|PMID:22863007|PMID:25741868|PMID:26539891|PMID:28492532|PMID:30868567|PMID:32723786|PMID:32925911|PMID:9536098 8732234 Znf423 zinc finger protein 423 gene DOID:2785 Dandy-Walker syndrome ISO RGD:734395 D RGD:9068941 20220825 MouseDO OMIM:220200 8732234 Znf423 zinc finger protein 423 gene DOID:2786 cerebellar disease ISO RGD:734395 D RGD:9068941 20220825 MouseDO 8732234 Znf423 zinc finger protein 423 gene DOID:630 genetic disease ISO RGD:1344492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8732234 Znf423 zinc finger protein 423 gene DOID:670 amphetamine abuse ISO RGD:1344492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8732234 Znf423 zinc finger protein 423 gene DOID:784 chronic kidney disease ISO RGD:1344492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532|PMID:32723786 8732259 Rpp21 ribonuclease P/MRP subunit p21 gene DOID:11372 megacolon ISO RGD:1346051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8732259 Rpp21 ribonuclease P/MRP subunit p21 gene DOID:630 genetic disease ISO RGD:1346051 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732268 Fzd3 frizzled class receptor 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:732935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8732268 Fzd3 frizzled class receptor 3 gene DOID:0070338 cerebellar hypoplasia ISO RGD:732935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 8732268 Fzd3 frizzled class receptor 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:732935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8732268 Fzd3 frizzled class receptor 3 gene DOID:1928 Williams-Beuren syndrome ISO RGD:732935 D RGD:9068941 20200609 RGD maps to 2 Mb in chromosome band 7q11.23 deleted in WS PMID:9147651|REF_RGD_ID:1582654 8732268 Fzd3 frizzled class receptor 3 gene DOID:5419 schizophrenia ISO RGD:732935 D RGD:9068941 20200609 RGD IVS3+258T>C polymorphism and/or IVS3+258T−435G haplotype in a Japanese population PMID:14642436|REF_RGD_ID:1582649 8732268 Fzd3 frizzled class receptor 3 gene DOID:5419 schizophrenia ISO RGD:732935 D RGD:9068941 20200609 RGD SNPs rs2323019 or rs880481 and/or three-locus haplotype ATG or GCG for SNPs rs2323019-rs352203-rs880481; Chinese Han population PMID:15274031|REF_RGD_ID:1582650 8732268 Fzd3 frizzled class receptor 3 gene DOID:5419 schizophrenia no_association ISO RGD:732935 D RGD:9068941 20200609 RGD SNPs rs960914, rs2241802, rs2323019 and rs352203; Japanese population PMID:15657645|REF_RGD_ID:1582651 8732268 Fzd3 frizzled class receptor 3 gene DOID:630 genetic disease ISO RGD:732935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732268 Fzd3 frizzled class receptor 3 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:732935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 8732268 Fzd3 frizzled class receptor 3 gene DOID:9256 colorectal cancer ISO RGD:732935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 8732285 Chmp1b charged multivesicular body protein 1B gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1603626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8732285 Chmp1b charged multivesicular body protein 1B gene DOID:1059 intellectual disability ISO RGD:1603626 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8732285 Chmp1b charged multivesicular body protein 1B gene DOID:543 dystonia ISO RGD:1603626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:23222958|PMID:24405754|PMID:25817843|PMID:27123488|PMID:28492532 8732285 Chmp1b charged multivesicular body protein 1B gene DOID:630 genetic disease ISO RGD:1603626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732290 Tmem134 transmembrane protein 134 gene DOID:1059 intellectual disability ISO RGD:1604784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8732290 Tmem134 transmembrane protein 134 gene DOID:630 genetic disease ISO RGD:1604784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732290 Tmem134 transmembrane protein 134 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8732290 Tmem134 transmembrane protein 134 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8732307 Taok3 TAO kinase 3 gene DOID:10283 prostate cancer ISO RGD:1605388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8732307 Taok3 TAO kinase 3 gene DOID:630 genetic disease ISO RGD:1605388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732307 Taok3 TAO kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8732335 Napg NSF attachment protein gamma gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1320824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8732335 Napg NSF attachment protein gamma gene DOID:1059 intellectual disability ISO RGD:1320824 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8732335 Napg NSF attachment protein gamma gene DOID:543 dystonia ISO RGD:1320824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8732335 Napg NSF attachment protein gamma gene DOID:630 genetic disease ISO RGD:1320824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732351 Id1 inhibitor of DNA binding 1, HLH protein gene DOID:13580 cholestasis ISO RGD:2858 D RGD:9068941 20200609 RGD protein:increased expression:liver, nucleus (rat) PMID:16628634|REF_RGD_ID:9686088 8732351 Id1 inhibitor of DNA binding 1, HLH protein gene DOID:14557 primary pulmonary hypertension ISO RGD:736819 D RGD:9068941 20200609 RGD protein:decreased expression:lung, wall of arteriole (human) PMID:20522807|REF_RGD_ID:9686087 8732351 Id1 inhibitor of DNA binding 1, HLH protein gene DOID:14566 disease of cellular proliferation ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16966095 8732351 Id1 inhibitor of DNA binding 1, HLH protein gene DOID:1686 glaucoma ISO RGD:736819 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 8732351 Id1 inhibitor of DNA binding 1, HLH protein gene DOID:630 genetic disease ISO RGD:736819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732351 Id1 inhibitor of DNA binding 1, HLH protein gene DOID:6432 pulmonary hypertension ISO RGD:2858 D RGD:9068941 20200609 RGD PMID:20522807|REF_RGD_ID:9686087 8732351 Id1 inhibitor of DNA binding 1, HLH protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:2858 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:11746449|REF_RGD_ID:9686138 8732351 Id1 inhibitor of DNA binding 1, HLH protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:736819 D RGD:9068941 20200806 CTD CTD Direct Evidence: therapeutic PMID:24910342 8732351 Id1 inhibitor of DNA binding 1, HLH protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 8732351 Id1 inhibitor of DNA binding 1, HLH protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8732351 Id1 inhibitor of DNA binding 1, HLH protein gene DOID:9007102 Myocardial Ischemia ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8732351 Id1 inhibitor of DNA binding 1, HLH protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:736819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8732373 Limk1 LIM domain kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8732373 Limk1 LIM domain kinase 1 gene DOID:12849 autistic disorder ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8732373 Limk1 LIM domain kinase 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:732406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8732373 Limk1 LIM domain kinase 1 gene DOID:1929 supravalvular aortic stenosis ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 8732373 Limk1 LIM domain kinase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8732373 Limk1 LIM domain kinase 1 gene DOID:5419 schizophrenia ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8732373 Limk1 LIM domain kinase 1 gene DOID:630 genetic disease ISO RGD:732406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8732373 Limk1 LIM domain kinase 1 gene DOID:8445 intestinal volvulus ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8732373 Limk1 LIM domain kinase 1 gene DOID:9002189 High Myopia ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8732373 Limk1 LIM domain kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8732373 Limk1 LIM domain kinase 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:732406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8732395 Plcb1 phospholipase C beta 1 gene DOID:0050562 West syndrome ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 8732395 Plcb1 phospholipase C beta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:733094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19805378 8732395 Plcb1 phospholipase C beta 1 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:733094 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) PMID:16820933|REF_RGD_ID:11535164 8732395 Plcb1 phospholipase C beta 1 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:733094 D RGD:9068941 20200609 RGD PMID:21109771|REF_RGD_ID:11535956 8732395 Plcb1 phospholipase C beta 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733094 D RGD:7240710 20180130 OMIM 8732395 Plcb1 phospholipase C beta 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20833646|PMID:22690784|PMID:24684524|PMID:24747189|PMID:25741868|PMID:25950944|PMID:26467025|PMID:26818157|PMID:28492532|PMID:31883110|PMID:32733715|PMID:9305844|PMID:9536098 8732395 Plcb1 phospholipase C beta 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733094 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20833646|PMID:22690784|PMID:24684524|PMID:24747189|PMID:25741868|PMID:25950944|PMID:26467025|PMID:26818157|PMID:28492532|PMID:31883110|PMID:9305844|PMID:9536098 8732395 Plcb1 phospholipase C beta 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 8732395 Plcb1 phospholipase C beta 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:733094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 8732395 Plcb1 phospholipase C beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733094 D RGD:9068941 20200609 RGD PMID:8534418|REF_RGD_ID:13825140 8732395 Plcb1 phospholipase C beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:735582 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 8732395 Plcb1 phospholipase C beta 1 gene DOID:11832 visual epilepsy ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:24747189|PMID:25741868|PMID:26467025|PMID:28492532 8732395 Plcb1 phospholipase C beta 1 gene DOID:1826 epilepsy ISO RGD:733094 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8732395 Plcb1 phospholipase C beta 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:733094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 8732395 Plcb1 phospholipase C beta 1 gene DOID:5419 schizophrenia ISO RGD:733094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17667964 8732395 Plcb1 phospholipase C beta 1 gene DOID:5419 schizophrenia ISO RGD:735582 D RGD:9068941 20220825 MouseDO OMIM:181500 8732395 Plcb1 phospholipase C beta 1 gene DOID:5844 myocardial infarction ISO RGD:3344 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:9521338|REF_RGD_ID:2314514 8732395 Plcb1 phospholipase C beta 1 gene DOID:630 genetic disease ISO RGD:733094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:24747189|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8732395 Plcb1 phospholipase C beta 1 gene DOID:9000641 Pain ISO RGD:733094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16405873 8732395 Plcb1 phospholipase C beta 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8732395 Plcb1 phospholipase C beta 1 gene DOID:9003698 ALAGILLE SYNDROME 1 ISO RGD:733094 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 8732395 Plcb1 phospholipase C beta 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:733094 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:20516454|REF_RGD_ID:11535940 8732434 Letmd1 LETM1 domain containing 1 gene DOID:1612 breast cancer ISO RGD:1344708 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19208263|REF_RGD_ID:2314917 8732434 Letmd1 LETM1 domain containing 1 gene DOID:363 uterine cancer ISO RGD:1344708 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:12879013|REF_RGD_ID:2314918 8732434 Letmd1 LETM1 domain containing 1 gene DOID:4001 ovarian carcinoma ISO RGD:1344708 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:12879013|REF_RGD_ID:2314918 8732434 Letmd1 LETM1 domain containing 1 gene DOID:4451 renal carcinoma ISO RGD:1344708 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:12879013|REF_RGD_ID:2314918 8732434 Letmd1 LETM1 domain containing 1 gene DOID:5517 stomach carcinoma ISO RGD:1344708 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stomach PMID:12879013|REF_RGD_ID:2314918 8732434 Letmd1 LETM1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1344708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732465 Phf3 PHD finger protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8732465 Phf3 PHD finger protein 3 gene DOID:0110384 retinitis pigmentosa 25 ISO RGD:1312646 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:17011488|PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21179430|PMID:21519034|PMID:22302105|PMID:22363543|PMID:22581970|PMID:23591405|PMID:23757202|PMID:24474277|PMID:24652164|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25491159|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26787102|PMID:26872967|PMID:27208204|PMID:27735924|PMID:28041643|PMID:28492532|PMID:28704921|PMID:28763560|PMID:29068140|PMID:29074561|PMID:29159838|PMID:29550188|PMID:29641573|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31087526|PMID:31144483|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:32036094|PMID:32037395|PMID:32531858|PMID:32675063|PMID:32728228|PMID:33090715|PMID:33247286|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33833316|PMID:34178978|PMID:34689181|PMID:34906470|PMID:35672425|PMID:36764454|PMID:36819107 8732465 Phf3 PHD finger protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1312646 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21179430|PMID:22302105|PMID:22363543|PMID:22581970|PMID:24033266|PMID:24474277|PMID:24652164|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26787102|PMID:26872967|PMID:27208204|PMID:27658286|PMID:28041643|PMID:28492532|PMID:29068140|PMID:29159838|PMID:29550188|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31087526|PMID:31213501|PMID:31456290|PMID:31725169|PMID:31814702|PMID:31960602|PMID:32037395|PMID:32531858|PMID:32675063|PMID:32728228|PMID:33247286|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33833316|PMID:34178978|PMID:34689181|PMID:34906470|PMID:35672425|PMID:36764454 8732465 Phf3 PHD finger protein 3 gene DOID:1059 intellectual disability ISO RGD:1312646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8732465 Phf3 PHD finger protein 3 gene DOID:11782 astigmatism ISO RGD:1312646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 8732465 Phf3 PHD finger protein 3 gene DOID:630 genetic disease ISO RGD:1312646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8732465 Phf3 PHD finger protein 3 gene DOID:8501 fundus dystrophy ISO RGD:1312646 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21519034|PMID:22302105|PMID:22363543|PMID:22581970|PMID:23591405|PMID:23757202|PMID:24474277|PMID:24652164|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26872967|PMID:27208204|PMID:28492532|PMID:28704921|PMID:29068140|PMID:29159838|PMID:29550188|PMID:30337596|PMID:30718709|PMID:31074760|PMID:31087526|PMID:31213501|PMID:31725169|PMID:32036094|PMID:32037395|PMID:32531858|PMID:32728228|PMID:33576794|PMID:33749171|PMID:33833316|PMID:34906470|PMID:35672425 8732465 Phf3 PHD finger protein 3 gene DOID:9000343 Vision Disorders ISO RGD:1312646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:25741868 8732465 Phf3 PHD finger protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312646 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8732503 Cwc27 CWC27 spliceosome associated cyclophilin gene DOID:10584 retinitis pigmentosa ISO RGD:1321753 D RGD:9068941 20220825 MouseDO 8732503 Cwc27 CWC27 spliceosome associated cyclophilin gene DOID:630 genetic disease ISO RGD:1321752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8732503 Cwc27 CWC27 spliceosome associated cyclophilin gene DOID:8501 fundus dystrophy ISO RGD:1321752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28285769|PMID:28492532 8732503 Cwc27 CWC27 spliceosome associated cyclophilin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8732503 Cwc27 CWC27 spliceosome associated cyclophilin gene DOID:9006431 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa ISO RGD:1321752 D RGD:7240710 20190315 OMIM 8732503 Cwc27 CWC27 spliceosome associated cyclophilin gene DOID:9006431 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa ISO RGD:1321752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies PMID:10420199|PMID:17576681|PMID:25741868|PMID:28285769|PMID:28492532|PMID:9536098 8732538 Utp20 UTP20 small subunit processome component gene DOID:630 genetic disease ISO RGD:1607048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732609 Tcf19 transcription factor 19 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1345711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8732609 Tcf19 transcription factor 19 gene DOID:10003 sensorineural hearing loss ISO RGD:1345711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8732609 Tcf19 transcription factor 19 gene DOID:11372 megacolon ISO RGD:1345711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8732609 Tcf19 transcription factor 19 gene DOID:630 genetic disease ISO RGD:1345711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732609 Tcf19 transcription factor 19 gene DOID:684 hepatocellular carcinoma ISO RGD:1345711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8732609 Tcf19 transcription factor 19 gene DOID:9002928 Colonic Neoplasms ISO RGD:1345711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8732630 Atg3 autophagy related 3 gene DOID:630 genetic disease ISO RGD:1353416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732646 Zcchc8 zinc finger CCHC-type containing 8 gene DOID:1059 intellectual disability ISO RGD:1320291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8732646 Zcchc8 zinc finger CCHC-type containing 8 gene DOID:630 genetic disease ISO RGD:1320291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8732646 Zcchc8 zinc finger CCHC-type containing 8 gene DOID:9009112 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 ISO RGD:1320291 D RGD:7240710 20191211 OMIM 8732646 Zcchc8 zinc finger CCHC-type containing 8 gene DOID:9009112 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 ISO RGD:1320291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 PMID:25741868|PMID:28492532|PMID:31488579 8732667 Znf653 zinc finger protein 653 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1347968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8732667 Znf653 zinc finger protein 653 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1347968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8732667 Znf653 zinc finger protein 653 gene DOID:0111254 glutaric acidemia I ISO RGD:1347968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8732667 Znf653 zinc finger protein 653 gene DOID:3413 alpha-mannosidosis ISO RGD:1347968 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8732667 Znf653 zinc finger protein 653 gene DOID:630 genetic disease ISO RGD:1347968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732681 Exoc7 exocyst complex component 7 gene DOID:630 genetic disease ISO RGD:1347556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732681 Exoc7 exocyst complex component 7 gene DOID:9009012 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ISO RGD:1347556 D RGD:7240710 20210120 OMIM 8732681 Exoc7 exocyst complex component 7 gene DOID:9009012 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ISO RGD:1347556 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy PMID:25741868|PMID:32103185 8732733 Rcor1 REST corepressor 1 gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1313957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 8732733 Rcor1 REST corepressor 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1313957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8732733 Rcor1 REST corepressor 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1313957 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:26489029 8732733 Rcor1 REST corepressor 1 gene DOID:630 genetic disease ISO RGD:1313957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732733 Rcor1 REST corepressor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 8732770 Sebox SEBOX homeobox gene DOID:630 genetic disease ISO RGD:1626595 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732777 Pbld phenazine biosynthesis like protein domain containing gene DOID:0060071 pre-malignant neoplasm ISO RGD:1606247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8732777 Pbld phenazine biosynthesis like protein domain containing gene DOID:630 genetic disease ISO RGD:1606247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732812 Lbr lamin B receptor gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549 8732812 Lbr lamin B receptor gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549 8732812 Lbr lamin B receptor gene DOID:0111588 Greenberg dysplasia ISO RGD:736984 D RGD:7240710 20180130 OMIM 8732812 Lbr lamin B receptor gene DOID:0111588 Greenberg dysplasia ISO RGD:736984 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia PMID:14684697|PMID:18382993|PMID:20522425|PMID:21327084|PMID:23824842|PMID:24033266|PMID:25348816|PMID:25741868|PMID:26467025|PMID:27336722|PMID:27830109|PMID:27875746|PMID:28492532|PMID:30448303|PMID:30518689|PMID:30561119|PMID:32827848|PMID:34567078|PMID:36307859 8732812 Lbr lamin B receptor gene DOID:12236 primary biliary cholangitis ISO RGD:736984 D RGD:9068941 20200609 RGD PMID:8550049|REF_RGD_ID:9588625 8732812 Lbr lamin B receptor gene DOID:1540 parathyroid carcinoma ISO RGD:736984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8732812 Lbr lamin B receptor gene DOID:1702 ichthyosis vulgaris ISO RGD:732448 D RGD:9068941 20220825 MouseDO OMIM:146700 8732812 Lbr lamin B receptor gene DOID:614 lymphopenia ISO RGD:732448 D RGD:9068941 20200609 RGD DNA:point mutation PMID:22105998|REF_RGD_ID:11062006 8732812 Lbr lamin B receptor gene DOID:630 genetic disease ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20522425|PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532 8732812 Lbr lamin B receptor gene DOID:65 connective tissue disease ISO RGD:736984 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532|PMID:32827848 8732812 Lbr lamin B receptor gene DOID:9001031 Retrognathia ISO RGD:736984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retrognathia PMID:25741868|PMID:26938784 8732812 Lbr lamin B receptor gene DOID:9003114 Reynolds Syndrome ISO RGD:736984 D RGD:7240710 20180130 OMIM 8732812 Lbr lamin B receptor gene DOID:9003114 Reynolds Syndrome ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome PMID:18382993|PMID:20522425|PMID:24033266|PMID:25348816|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32827848 8732812 Lbr lamin B receptor gene DOID:9006936 Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia ISO RGD:736984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia PMID:18382993|PMID:25348816|PMID:25741868|PMID:28492532 8732812 Lbr lamin B receptor gene DOID:9009255 PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES ISO RGD:736984 D RGD:7240710 20190315 OMIM 8732812 Lbr lamin B receptor gene DOID:9009255 PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES ISO RGD:736984 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | ClinVar Annotator: match by term: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY PMID:18382993|PMID:23824842|PMID:25348816|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29068549|PMID:30448303|PMID:32827848|PMID:34567078|PMID:36307859 8732812 Lbr lamin B receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:732448 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8732812 Lbr lamin B receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8732812 Lbr lamin B receptor gene DOID:9631 Pelger-Huet anomaly ISO RGD:736984 D RGD:7240710 20180130 OMIM 8732812 Lbr lamin B receptor gene DOID:9631 Pelger-Huet anomaly ISO RGD:736984 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities | ClinVar Annotator: match by term: Pelger-Huet Anomaly | ClinVar Annotator: match by term: Pelger-Huët anomaly PMID:12118250|PMID:14617022|PMID:18382993|PMID:21327084|PMID:23824842|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26938784|PMID:27336722|PMID:27830109|PMID:28492532|PMID:30448303|PMID:32827848|PMID:34567078|PMID:36307859 8732812 Lbr lamin B receptor gene DOID:9631 Pelger-Huet anomaly susceptibility ISO RGD:736984 D RGD:9068941 20200609 RGD DNA:splice-site mutations, frameshift mutations, nonsense mutations PMID:12118250|REF_RGD_ID:1600215 8732843 Samsn1 SAM domain, SH3 domain and nuclear localization signals 1 gene DOID:0080600 COVID-19 ISO RGD:1348552 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8732843 Samsn1 SAM domain, SH3 domain and nuclear localization signals 1 gene DOID:10652 Alzheimer's disease ISO RGD:1348552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8732843 Samsn1 SAM domain, SH3 domain and nuclear localization signals 1 gene DOID:630 genetic disease ISO RGD:1348552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732843 Samsn1 SAM domain, SH3 domain and nuclear localization signals 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8732859 Sat2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8732859 Sat2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317312 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8732859 Sat2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1317312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8732859 Sat2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1317312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8732859 Sat2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8732859 Sat2 spermidine/spermine N1-acetyltransferase family member 2 gene DOID:630 genetic disease ISO RGD:1317312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732879 Tspan7 tetraspanin 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8732879 Tspan7 tetraspanin 7 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 8732879 Tspan7 tetraspanin 7 gene DOID:0112024 non-syndromic X-linked intellectual disability 58 ISO RGD:1352570 D RGD:7240710 20180130 OMIM 8732879 Tspan7 tetraspanin 7 gene DOID:0112024 non-syndromic X-linked intellectual disability 58 ISO RGD:1352570 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 PMID:10655063|PMID:12376945|PMID:14735593|PMID:25741868|PMID:28492532 8732879 Tspan7 tetraspanin 7 gene DOID:1059 intellectual disability ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8732879 Tspan7 tetraspanin 7 gene DOID:12849 autistic disorder ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8732879 Tspan7 tetraspanin 7 gene DOID:630 genetic disease ISO RGD:1352570 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8732879 Tspan7 tetraspanin 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8732879 Tspan7 tetraspanin 7 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8732891 Man1c1 mannosidase alpha class 1C member 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1320140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8732891 Man1c1 mannosidase alpha class 1C member 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1320140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8732891 Man1c1 mannosidase alpha class 1C member 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1320140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:21131290|PMID:21670436|PMID:28492532 8732891 Man1c1 mannosidase alpha class 1C member 1 gene DOID:630 genetic disease ISO RGD:1320140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732907 Katnip katanin interacting protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604044 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:26714646 8732907 Katnip katanin interacting protein gene DOID:0110995 Joubert Syndrome 26 ISO RGD:1604044 D RGD:7240710 20190315 OMIM 8732907 Katnip katanin interacting protein gene DOID:0110995 Joubert Syndrome 26 ISO RGD:1604044 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 26 | ClinVar Annotator: match by term: KATNIP-related condition PMID:25741868|PMID:26714646|PMID:27245168|PMID:28492532 8732907 Katnip katanin interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8732907 Katnip katanin interacting protein gene DOID:630 genetic disease ISO RGD:1604044 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8732939 Zdhhc23 zinc finger DHHC-type palmitoyltransferase 23 gene DOID:630 genetic disease ISO RGD:1345232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732939 Zdhhc23 zinc finger DHHC-type palmitoyltransferase 23 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8732955 Tmem208 transmembrane protein 208 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8732955 Tmem208 transmembrane protein 208 gene DOID:630 genetic disease ISO RGD:1605689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732965 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:0080600 COVID-19 ISO RGD:1603703 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8732965 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8732965 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:1826 epilepsy ISO RGD:1603703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8732965 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603703 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8732965 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:1909 melanoma ISO RGD:1603703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8732965 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:630 genetic disease ISO RGD:1603703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8732965 Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1603703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8732988 Xpo5 exportin 5 gene DOID:0050444 infantile Refsum disease ISO RGD:1323025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8732988 Xpo5 exportin 5 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1323025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26878725 8732988 Xpo5 exportin 5 gene DOID:12858 Huntington's disease ISO RGD:1323026 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum (mouse) PMID:21035445|REF_RGD_ID:11041745 8732988 Xpo5 exportin 5 gene DOID:1612 breast cancer susceptibility ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.S241N, p.M1115T (rs34324334, rs11544382) (human) PMID:21552306|REF_RGD_ID:11041726 8732988 Xpo5 exportin 5 gene DOID:1793 pancreatic cancer ISO RGD:1323026 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas (mouse) PMID:26516699|REF_RGD_ID:11041739 8732988 Xpo5 exportin 5 gene DOID:2154 nephroblastoma ISO RGD:1323025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8732988 Xpo5 exportin 5 gene DOID:2671 transitional cell carcinoma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD mRNA:increased expression:urothelium (human) PMID:22766726|REF_RGD_ID:11041723 8732988 Xpo5 exportin 5 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) PMID:21799879|REF_RGD_ID:11041736 8732988 Xpo5 exportin 5 gene DOID:5409 lung small cell carcinoma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) PMID:24648983|REF_RGD_ID:11041738 8732988 Xpo5 exportin 5 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snps, haplotype:exon, 3' utr:c.3303C>T, c.*659A>C (rs2257082, rs11077) (human) PMID:23549446|REF_RGD_ID:11041728 8732988 Xpo5 exportin 5 gene DOID:630 genetic disease ISO RGD:1323025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8732988 Xpo5 exportin 5 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) PMID:24676133|REF_RGD_ID:11041737 8732988 Xpo5 exportin 5 gene DOID:9000027 Microsatellite Instability ISO RGD:1323025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 8732988 Xpo5 exportin 5 gene DOID:9008914 Lead Poisoning ISO RGD:1323025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28042866 8732988 Xpo5 exportin 5 gene DOID:905 Zellweger syndrome ISO RGD:1323025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8732988 Xpo5 exportin 5 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) PMID:26147304|REF_RGD_ID:11041733 8732988 Xpo5 exportin 5 gene DOID:9538 multiple myeloma severity ISO RGD:1323025 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.*659A>C (rs11077) (human) PMID:22539802|REF_RGD_ID:11041735 8733033 Glrb glycine receptor beta gene DOID:0060695 hyperekplexia ISO RGD:731361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperekplexia 8733033 Glrb glycine receptor beta gene DOID:0060697 hyperekplexia 2 ISO RGD:731361 D RGD:7240710 20180130 OMIM 8733033 Glrb glycine receptor beta gene DOID:0060697 hyperekplexia 2 ISO RGD:731361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperekplexia 2 PMID:11929858|PMID:16199547|PMID:17576681|PMID:21391991|PMID:22532536|PMID:23182654|PMID:23184146|PMID:25640679|PMID:25741868|PMID:28492532|PMID:32911248|PMID:33323420|PMID:9536098 8733033 Glrb glycine receptor beta gene DOID:13366 Stiff-Person syndrome ISO RGD:731361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8733033 Glrb glycine receptor beta gene DOID:630 genetic disease ISO RGD:731361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23184146|PMID:28492532 8733046 Rcn3 reticulocalbin 3 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1346169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8733046 Rcn3 reticulocalbin 3 gene DOID:630 genetic disease ISO RGD:1346169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733046 Rcn3 reticulocalbin 3 gene DOID:8398 osteoarthritis ISO RGD:1346169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8733057 Tssk2 testis specific serine kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8733057 Tssk2 testis specific serine kinase 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606567 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8733057 Tssk2 testis specific serine kinase 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606567 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8733057 Tssk2 testis specific serine kinase 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1606567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8733057 Tssk2 testis specific serine kinase 2 gene DOID:1059 intellectual disability ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8733057 Tssk2 testis specific serine kinase 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1606567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8733057 Tssk2 testis specific serine kinase 2 gene DOID:11372 megacolon ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8733057 Tssk2 testis specific serine kinase 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1606567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8733057 Tssk2 testis specific serine kinase 2 gene DOID:12849 autistic disorder ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8733057 Tssk2 testis specific serine kinase 2 gene DOID:1826 epilepsy ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8733057 Tssk2 testis specific serine kinase 2 gene DOID:5419 schizophrenia ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8733057 Tssk2 testis specific serine kinase 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8733057 Tssk2 testis specific serine kinase 2 gene DOID:630 genetic disease ISO RGD:1606567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733057 Tssk2 testis specific serine kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8733057 Tssk2 testis specific serine kinase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8733061 Vasp vasodilator stimulated phosphoprotein gene DOID:630 genetic disease ISO RGD:1323055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733061 Vasp vasodilator stimulated phosphoprotein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8733087 CUNH17orf67 chromosome unknown C17orf67 homolog gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603500 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8733104 Siah3 siah E3 ubiquitin protein ligase family member 3 gene DOID:630 genetic disease ISO RGD:1603255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0050827 rheumatic heart disease ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:26823728|REF_RGD_ID:13792679 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0050866 oral squamous cell carcinoma ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27375172|REF_RGD_ID:13792673 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0060108 brain glioma ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:26032618|REF_RGD_ID:13792685 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:735871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0080600 COVID-19 ISO RGD:735871 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:735871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0080855 Parkinsonism ISO RGD:735871 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:29886133 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:0111621 Temtamy syndrome ISO RGD:735871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:10619 D RGD:9068941 20200609 RGD protein:decreased activity:cerebral cortex, cerebellum PMID:17324518|REF_RGD_ID:13792614 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:2661 D RGD:9068941 20200609 RGD protein:decreased activity:cerebral cortex, hippocampus PMID:17324518|REF_RGD_ID:13792614 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:735871 D RGD:9068941 20200609 RGD PMID:28087189|REF_RGD_ID:13792604 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:735871 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :rs740850, rs1060620 (human) PMID:18340469|REF_RGD_ID:13792612 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease ISO RGD:735871 D RGD:9068941 20200609 RGD protein:increased S-glutathionylation, decreased activity:inferior parietal cortex PMID:17387692|REF_RGD_ID:13792613 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease onset ISO RGD:735871 D RGD:9068941 20200609 RGD DNA:snps:5' utr, intron: (rs3741916, rs1060621) (human) PMID:15507493|REF_RGD_ID:1358618 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735871 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:rs3741916 (human) PMID:20864222|REF_RGD_ID:13792611 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:11476 osteoporosis ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:12858 Huntington's disease ISO RGD:10619 D RGD:9068941 20200609 RGD PMID:26268247|REF_RGD_ID:13792684 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:1749 squamous cell carcinoma ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:1826 epilepsy ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:30143487|REF_RGD_ID:13792618 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735871 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:3525 middle cerebral artery infarction ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:25882840|REF_RGD_ID:13792686 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:3910 lung adenocarcinoma ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:630 genetic disease ISO RGD:735871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16767786|PMID:21472284 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:8398 osteoarthritis ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:8947 diabetic retinopathy ISO RGD:2661 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18852331|REF_RGD_ID:2315975 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27256506|REF_RGD_ID:13792677 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9000117 Esophageal Neoplasms ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9000888 Pregnancy in Diabetics ISO RGD:2661 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression,decreased activity:embryo PMID:12716756|REF_RGD_ID:2315979 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9001686 Acute Coronary Syndrome ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:30195603|REF_RGD_ID:13792615 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9002669 Hypoxia ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27655796|REF_RGD_ID:13792671 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9005749 Necrosis ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25725130 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9006205 Animal Disease Models ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:735871 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9007364 Mouth Neoplasms ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27129213|REF_RGD_ID:11574725 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:735871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9009171 Primary Autosomal Recessive Microcephaly 21 ISO RGD:735871 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive PMID:25741868 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:10619 D RGD:9068941 20200609 RGD protein:decreased acetylation PMID:28258188|REF_RGD_ID:13792662 8733110 Gapdh glyceraldehyde-3-phosphate dehydrogenase gene DOID:9970 obesity treatment ISO RGD:2661 D RGD:9068941 20200609 RGD PMID:27987997|REF_RGD_ID:13792668 8733132 Onecut1 one cut homeobox 1 gene DOID:0050770 polycystic liver disease ISO RGD:732947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 8733132 Onecut1 one cut homeobox 1 gene DOID:2717 Bloom syndrome ISO RGD:732947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8733132 Onecut1 one cut homeobox 1 gene DOID:607 paraplegia ISO RGD:732947 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 8733132 Onecut1 one cut homeobox 1 gene DOID:630 genetic disease ISO RGD:732947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733132 Onecut1 one cut homeobox 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:732947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 8733132 Onecut1 one cut homeobox 1 gene DOID:9256 colorectal cancer ISO RGD:732947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8733138 Fam216a family with sequence similarity 216 member A gene DOID:630 genetic disease ISO RGD:1607038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733166 Lamp5 lysosomal associated membrane protein family member 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1315920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 8733166 Lamp5 lysosomal associated membrane protein family member 5 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1315920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 8733166 Lamp5 lysosomal associated membrane protein family member 5 gene DOID:630 genetic disease ISO RGD:1315920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733166 Lamp5 lysosomal associated membrane protein family member 5 gene DOID:9003698 ALAGILLE SYNDROME 1 ISO RGD:1315920 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 8733195 Hspb3 heat shock protein family B (small) member 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68484 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:32323160 8733195 Hspb3 heat shock protein family B (small) member 3 gene DOID:0111209 autosomal dominant distal hereditary motor neuronopathy 4 ISO RGD:68484 D RGD:7240710 20180130 OMIM 8733195 Hspb3 heat shock protein family B (small) member 3 gene DOID:0111209 autosomal dominant distal hereditary motor neuronopathy 4 ISO RGD:68484 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C PMID:20142617|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32397312|PMID:8972725 8733195 Hspb3 heat shock protein family B (small) member 3 gene DOID:630 genetic disease ISO RGD:68484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733195 Hspb3 heat shock protein family B (small) member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8733201 Gnaz G protein subunit alpha z gene DOID:11198 DiGeorge syndrome ISO RGD:733341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8733201 Gnaz G protein subunit alpha z gene DOID:5419 schizophrenia ISO RGD:733341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8733201 Gnaz G protein subunit alpha z gene DOID:630 genetic disease ISO RGD:733341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733201 Gnaz G protein subunit alpha z gene DOID:684 hepatocellular carcinoma ISO RGD:733341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8733211 Cntn3 contactin 3 gene DOID:12849 autistic disorder ISO RGD:732842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 8733211 Cntn3 contactin 3 gene DOID:3042 allergic contact dermatitis ISO RGD:732842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 8733211 Cntn3 contactin 3 gene DOID:630 genetic disease ISO RGD:732842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733238 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0050563 nonsyndromic deafness ISO RGD:1603834 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:21465660|PMID:25589040|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29703829|PMID:30514912|PMID:33111345 8733238 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1603834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8733238 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:1603834 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 PMID:25741868|PMID:26467025|PMID:28492532|PMID:33111345 8733238 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110525 autosomal recessive nonsyndromic deafness 77 ISO RGD:1603834 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 77 PMID:21465660|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33111345 8733238 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISO RGD:1621965 D RGD:9068941 20220825 MouseDO OMIM:600652 8733238 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110574 autosomal dominant nonsyndromic deafness 4B ISO RGD:1603834 D RGD:7240710 20180130 OMIM 8733238 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0110574 autosomal dominant nonsyndromic deafness 4B ISO RGD:1603834 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 4b PMID:21368133|PMID:24033266|PMID:25589040|PMID:25741868|PMID:28492532|PMID:30311386|PMID:35802133|PMID:36633841|PMID:7655461 8733238 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0111636 autosomal recessive nonsyndromic deafness 113 ISO RGD:1603834 D RGD:7240710 20190515 OMIM 8733238 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:0111636 autosomal recessive nonsyndromic deafness 113 ISO RGD:1603834 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 113 PMID:21465660|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29703829|PMID:30311386|PMID:33111345 8733238 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:630 genetic disease ISO RGD:1603834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 8733238 Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component gene DOID:9004538 Hearing Loss ISO RGD:1603834 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:30311386 8733248 Cnnm3 cyclin and CBS domain divalent metal cation transport mediator 3 gene DOID:1059 intellectual disability ISO RGD:1317403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8733248 Cnnm3 cyclin and CBS domain divalent metal cation transport mediator 3 gene DOID:5419 schizophrenia ISO RGD:1317403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8733248 Cnnm3 cyclin and CBS domain divalent metal cation transport mediator 3 gene DOID:630 genetic disease ISO RGD:1317403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733261 Stam signal transducing adaptor molecule gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8733261 Stam signal transducing adaptor molecule gene DOID:630 genetic disease ISO RGD:1320313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733261 Stam signal transducing adaptor molecule gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1320313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 8733286 Prdm16 PR/SET domain 16 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8733286 Prdm16 PR/SET domain 16 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1353101 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8733286 Prdm16 PR/SET domain 16 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8733286 Prdm16 PR/SET domain 16 gene DOID:0060480 left ventricular noncompaction ISO RGD:1620785 D RGD:9068941 20220825 MouseDO OMIM:604169 8733286 Prdm16 PR/SET domain 16 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 8733286 Prdm16 PR/SET domain 16 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353101 D RGD:7240710 20180130 OMIM 8733286 Prdm16 PR/SET domain 16 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1LL | ClinVar Annotator: match by term: Left ventricular noncompaction 8 | ClinVar Annotator: match by term: PRDM16-related condition PMID:16199547|PMID:17576681|PMID:23768516|PMID:24033266|PMID:24140581|PMID:25640679|PMID:25741868|PMID:26350513|PMID:27535533|PMID:28492532|PMID:28798025|PMID:29367541|PMID:29447731|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31648988|PMID:31983221|PMID:32041989|PMID:32233023|PMID:32746448|PMID:32880476|PMID:33500567|PMID:34540771|PMID:36178741|PMID:9536098 8733286 Prdm16 PR/SET domain 16 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8733286 Prdm16 PR/SET domain 16 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8733286 Prdm16 PR/SET domain 16 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8733286 Prdm16 PR/SET domain 16 gene DOID:10907 microcephaly ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8733286 Prdm16 PR/SET domain 16 gene DOID:12930 dilated cardiomyopathy ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23768516|PMID:25741868|PMID:28492532 8733286 Prdm16 PR/SET domain 16 gene DOID:3393 coronary artery disease ISO RGD:1353101 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35590109 8733286 Prdm16 PR/SET domain 16 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1353101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:32233023 8733286 Prdm16 PR/SET domain 16 gene DOID:397 restrictive cardiomyopathy ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:23768516|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 8733286 Prdm16 PR/SET domain 16 gene DOID:630 genetic disease ISO RGD:1353101 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:24140581|PMID:25741868|PMID:28492532|PMID:32746448 8733286 Prdm16 PR/SET domain 16 gene DOID:6364 migraine ISO RGD:1353101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666692 8733286 Prdm16 PR/SET domain 16 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1353101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:23768516|PMID:25741868|PMID:31333075|PMID:31568572|PMID:34540771 8733286 Prdm16 PR/SET domain 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8733286 Prdm16 PR/SET domain 16 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8733305 Sh3bp4 SH3 domain binding protein 4 gene DOID:630 genetic disease ISO RGD:731485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733326 Exosc3 exosome component 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8733326 Exosc3 exosome component 3 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1312357 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:18414213|PMID:22544365|PMID:23284067|PMID:23975261|PMID:24033266|PMID:24524299|PMID:25533962|PMID:25741868|PMID:25809939|PMID:28492532|PMID:31980526|PMID:33462000|PMID:36004024 8733326 Exosc3 exosome component 3 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1312357 D RGD:7240710 20180130 OMIM 8733326 Exosc3 exosome component 3 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1312357 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B PMID:16199547|PMID:18414213|PMID:22544365|PMID:23284067|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24033266|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:25809939|PMID:27146152|PMID:27777260|PMID:28053271|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30221345|PMID:30986545|PMID:31692161|PMID:31980526|PMID:33462000|PMID:36004024 8733326 Exosc3 exosome component 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1312357 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8733326 Exosc3 exosome component 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312357 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:22544365|PMID:23883322|PMID:24524299|PMID:25741868|PMID:28053271|PMID:28492532|PMID:30221345 8733326 Exosc3 exosome component 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8733326 Exosc3 exosome component 3 gene DOID:0112322 pontocerebellar hypoplasia type 1 ISO RGD:1312357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544365 8733326 Exosc3 exosome component 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312357 D RGD:9068941 20220421 RGD mRNA:altered expression:stomach, tumor (human) PMID:29069277|REF_RGD_ID:151893464 8733326 Exosc3 exosome component 3 gene DOID:630 genetic disease ISO RGD:1312357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545 8733326 Exosc3 exosome component 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545 8733326 Exosc3 exosome component 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1312357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:22544365|PMID:23564332|PMID:23883322|PMID:23975261|PMID:24524299|PMID:24970098|PMID:25149867|PMID:25326635|PMID:25533962|PMID:25741868|PMID:27146152|PMID:27777260|PMID:28492532|PMID:28687512|PMID:29186371|PMID:29444210|PMID:29656927|PMID:30986545 8733326 Exosc3 exosome component 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312357 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8733326 Exosc3 exosome component 3 gene DOID:9870 galactosemia ISO RGD:1312357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8733334 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8733334 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ISO RGD:1347920 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia PMID:23643382|PMID:25741868|PMID:28492532 8733334 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:12849 autistic disorder ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8733334 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:13938 amenorrhea ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 8733334 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:1923 disorder of sexual development ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8733334 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:303 substance-related disorder ISO RGD:1347920 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8733334 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:5419 schizophrenia ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8733334 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:630 genetic disease ISO RGD:1347920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733334 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:9002189 High Myopia ISO RGD:1347920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8733334 Macrod2 mono-ADP ribosylhydrolase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1347920 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 8733366 Znhit3 zinc finger HIT-type containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1315114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8733366 Znhit3 zinc finger HIT-type containing 3 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1315114 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 8733366 Znhit3 zinc finger HIT-type containing 3 gene DOID:0080539 PEHO syndrome ISO RGD:1315114 D RGD:7240710 20190315 OMIM 8733366 Znhit3 zinc finger HIT-type containing 3 gene DOID:0080539 PEHO syndrome ISO RGD:1315114 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PEHO syndrome PMID:25741868|PMID:28335020|PMID:28492532|PMID:31048081 8733366 Znhit3 zinc finger HIT-type containing 3 gene DOID:12849 autistic disorder ISO RGD:1315114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8733366 Znhit3 zinc finger HIT-type containing 3 gene DOID:5419 schizophrenia ISO RGD:1315114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8733366 Znhit3 zinc finger HIT-type containing 3 gene DOID:630 genetic disease ISO RGD:1315114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733366 Znhit3 zinc finger HIT-type containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8733378 Cd46 CD46 molecule gene DOID:0050589 inflammatory bowel disease ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8733378 Cd46 CD46 molecule gene DOID:0080097 myofibrillar myopathy 6 ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 PMID:25741868|PMID:28492532 8733378 Cd46 CD46 molecule gene DOID:0080176 meningococcal meningitis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:12869763|REF_RGD_ID:6483466 8733378 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:10528197|PMID:14566051|PMID:14615110|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:29500241|PMID:29566171|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 8733378 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 8733378 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:11414356|PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 8733378 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30046676|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 8733378 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30609409|PMID:30676336|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 8733378 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30609409|PMID:30676336|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 8733378 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23508668|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27064621|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29511899|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30377230|PMID:30609409|PMID:30676336|PMID:30905589|PMID:31945341|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 8733378 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1346662 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23508668|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24799305|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27064621|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29148534|PMID:29500241|PMID:29511899|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30377230|PMID:30609409|PMID:30676336|PMID:30905589|PMID:31945341|PMID:32424742|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389 8733378 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome severity ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:20595690|REF_RGD_ID:11038684 8733378 Cd46 CD46 molecule gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1346662 D RGD:7240710 20190502 OMIM 8733378 Cd46 CD46 molecule gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1346662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30185663 8733378 Cd46 CD46 molecule gene DOID:0080998 acute necrotizing pancreatitis severity ISO RGD:3061 D RGD:9068941 20200609 RGD PMID:16425382|REF_RGD_ID:1600479 8733378 Cd46 CD46 molecule gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8733378 Cd46 CD46 molecule gene DOID:10591 pre-eclampsia no_association ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A304V (human) PMID:25710174|REF_RGD_ID:11352807 8733378 Cd46 CD46 molecule gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A304V (human) PMID:21445332|REF_RGD_ID:6483459 8733378 Cd46 CD46 molecule gene DOID:10871 age related macular degeneration ISO RGD:736683 D RGD:9068941 20220825 MouseDO 8733378 Cd46 CD46 molecule gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.N233X3 (human) PMID:14615110|REF_RGD_ID:11352767 8733378 Cd46 CD46 molecule gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:16189652|REF_RGD_ID:11531138 8733378 Cd46 CD46 molecule gene DOID:12554 hemolytic-uremic syndrome susceptibility ISO RGD:1346662 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human) PMID:14566051|REF_RGD_ID:11352770 8733378 Cd46 CD46 molecule gene DOID:12849 autistic disorder ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8733378 Cd46 CD46 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8733378 Cd46 CD46 molecule gene DOID:2377 multiple sclerosis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:21177319|REF_RGD_ID:6483460 8733378 Cd46 CD46 molecule gene DOID:2452 thrombophilia ISO RGD:1346662 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta (human) PMID:23042280|REF_RGD_ID:11352772 8733378 Cd46 CD46 molecule gene DOID:2773 contact dermatitis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:12055630|REF_RGD_ID:6483467 8733378 Cd46 CD46 molecule gene DOID:3459 breast carcinoma ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:very strong diffuse staining on carcinomas PMID:7532466|REF_RGD_ID:2293551 8733378 Cd46 CD46 molecule gene DOID:3459 breast carcinoma disease_progression ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significant association with tumor grade (p < 0.05), type (p < 0.001) and incidence of recurrence (p < 0.05) PMID:15378282|REF_RGD_ID:2293547 8733378 Cd46 CD46 molecule gene DOID:4450 renal cell carcinoma ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:expression associated with presence of complement C3d on tumor cells (p<0.02) and with tumor stage (p<0.04) PMID:10744069|REF_RGD_ID:2293550 8733378 Cd46 CD46 molecule gene DOID:557 kidney disease ISO RGD:1346662 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 8733378 Cd46 CD46 molecule gene DOID:589 congenital hemolytic anemia ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 8733378 Cd46 CD46 molecule gene DOID:630 genetic disease ISO RGD:1346662 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532 8733378 Cd46 CD46 molecule gene DOID:8622 measles ISO RGD:1346662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8402913 8733378 Cd46 CD46 molecule gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:9358772|REF_RGD_ID:2293549 8733378 Cd46 CD46 molecule gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1346662 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:16199547|PMID:16621965|PMID:16762990|PMID:23431077|PMID:23519521|PMID:25741868|PMID:28492532|PMID:28752844|PMID:30046676|PMID:30676336|PMID:33224962 8733378 Cd46 CD46 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:21852528|REF_RGD_ID:6483461 8733378 Cd46 CD46 molecule gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:12183422|PMID:15726105|REF_RGD_ID:2306066|REF_RGD_ID:2306067 8733378 Cd46 CD46 molecule gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:17214367|REF_RGD_ID:2306065 8733378 Cd46 CD46 molecule gene DOID:9002834 Herpesviridae Infections ISO RGD:1346662 D RGD:9068941 20200609 RGD associated with Multiple Sclerosis PMID:19456309|REF_RGD_ID:6483463 8733378 Cd46 CD46 molecule gene DOID:9002884 Emphysema ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:21573156|REF_RGD_ID:6483458 8733378 Cd46 CD46 molecule gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression, altered expression pattern:tumor:intense uniform staining of tumor cells vs heterogeneous staining of normal tissue and premalignant lesions PMID:9358772|REF_RGD_ID:2293549 8733378 Cd46 CD46 molecule gene DOID:9003505 Venous Thromboembolism severity ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:25684211|REF_RGD_ID:11352815 8733378 Cd46 CD46 molecule gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346662 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8733378 Cd46 CD46 molecule gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:tumor:versus benign endometrium (p<0.0001) PMID:10637067|REF_RGD_ID:2293548 8733378 Cd46 CD46 molecule gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1346662 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte (human) PMID:22247341|REF_RGD_ID:6483457 8733378 Cd46 CD46 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8733378 Cd46 CD46 molecule gene DOID:934 viral infectious disease ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:monocyte (human) PMID:23376460|REF_RGD_ID:11352813 8733378 Cd46 CD46 molecule gene DOID:9470 bacterial meningitis ISO RGD:1346662 D RGD:9068941 20200609 RGD PMID:16948860|REF_RGD_ID:6483465 8733378 Cd46 CD46 molecule gene DOID:9538 multiple myeloma ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:plasma cell (human) PMID:16728275|REF_RGD_ID:11352814 8733378 Cd46 CD46 molecule gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1346662 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:16353080|REF_RGD_ID:11352810 8733413 Notch1 notch receptor 1 gene DOID:0050145 adenoiditis ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Chronic adenoiditis PMID:25741868|PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737367 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:16707600|REF_RGD_ID:1580759 8733413 Notch1 notch receptor 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:10998 D RGD:9068941 20220204 RGD protein:increased expression:tongue (mouse) PMID:30624777|REF_RGD_ID:151347668 8733413 Notch1 notch receptor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737367 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8733413 Notch1 notch receptor 1 gene DOID:0060058 lymphoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18798262 8733413 Notch1 notch receptor 1 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:24728327|PMID:25741868|PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:0060249 scoliosis ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 8733413 Notch1 notch receptor 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8733413 Notch1 notch receptor 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 8733413 Notch1 notch receptor 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:737367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:24728327|PMID:25741868|PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:0080333 aortic valve disease 1 ISO RGD:737367 D RGD:7240710 20180130 OMIM 8733413 Notch1 notch receptor 1 gene DOID:0080333 aortic valve disease 1 ISO RGD:737367 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition PMID:15472075|PMID:16025100|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23798201|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25104330|PMID:25132448|PMID:25260786|PMID:25326637|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:27283355|PMID:27760138|PMID:27854218|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28776427|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31633846|PMID:31654484|PMID:31866570|PMID:32277046|PMID:32748548|PMID:33064175|PMID:33110418|PMID:33208564|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 8733413 Notch1 notch receptor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:0081097 Rafiq syndrome ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8733413 Notch1 notch receptor 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:737367 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:10485 esophageal atresia ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8733413 Notch1 notch receptor 1 gene DOID:10629 microphthalmia ISO RGD:737367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:25741868|PMID:26893459|PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:737367 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cholesteatoma of middle ear PMID:25741868|PMID:27993330|PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:13025 retinopathy of prematurity treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:30652694|REF_RGD_ID:155663485 8733413 Notch1 notch receptor 1 gene DOID:1380 endometrial cancer ISO RGD:737367 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:11078798|REF_RGD_ID:2299153 8733413 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27854218|PMID:27989580|PMID:28166811|PMID:28387797|PMID:28492532|PMID:30059548|PMID:30609409|PMID:32748548 8733413 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27854218|PMID:27989580|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548 8733413 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27989580|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548 8733413 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27854218|PMID:27989580|PMID:28074886|PMID:28166811|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 8733413 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 8733413 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 8733413 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 8733413 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 8733413 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 8733413 Notch1 notch receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737367 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15472075|PMID:16025100|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 8733413 Notch1 notch receptor 1 gene DOID:14323 Marfan syndrome ISO RGD:737367 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532|PMID:33726816 8733413 Notch1 notch receptor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8733413 Notch1 notch receptor 1 gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:1682 congenital heart disease ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:17662764|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28387797|PMID:28492532|PMID:30609409 8733413 Notch1 notch receptor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 8733413 Notch1 notch receptor 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:10998 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17297654|REF_RGD_ID:2325328 8733413 Notch1 notch receptor 1 gene DOID:182 calcinosis ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22110751 8733413 Notch1 notch receptor 1 gene DOID:1826 epilepsy ISO RGD:737367 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8733413 Notch1 notch receptor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10998 D RGD:9068941 20221117 RGD PMID:30909142|REF_RGD_ID:155663380 8733413 Notch1 notch receptor 1 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737367 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24728327|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532|PMID:35101336 8733413 Notch1 notch receptor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:30258350|REF_RGD_ID:155663419 8733413 Notch1 notch receptor 1 gene DOID:255 hemangioma ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:25741868 8733413 Notch1 notch receptor 1 gene DOID:264 hemangiopericytoma ISO RGD:737367 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 8733413 Notch1 notch receptor 1 gene DOID:3068 glioblastoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8733413 Notch1 notch receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8733413 Notch1 notch receptor 1 gene DOID:3149 keratoacanthoma ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoacanthoma PMID:27283355 8733413 Notch1 notch receptor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10998 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 8733413 Notch1 notch receptor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10998 D RGD:9068941 20200609 RGD PMID:19028876|PMID:20484026|REF_RGD_ID:2325323|REF_RGD_ID:2325324 8733413 Notch1 notch receptor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 8733413 Notch1 notch receptor 1 gene DOID:3652 Leigh disease ISO RGD:737367 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8733413 Notch1 notch receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:3187 D RGD:9068941 20221201 RGD protein:increased expression:lung PMID:27982686|REF_RGD_ID:155663660 8733413 Notch1 notch receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:20007775|PMID:25741868|PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 8733413 Notch1 notch receptor 1 gene DOID:4079 heart valve disease ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22110751 8733413 Notch1 notch receptor 1 gene DOID:4556 lung large cell carcinoma treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 8733413 Notch1 notch receptor 1 gene DOID:4947 cholangiocarcinoma ISO RGD:737367 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte PMID:15887117|REF_RGD_ID:2325330 8733413 Notch1 notch receptor 1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:3187 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 8733413 Notch1 notch receptor 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia 8733413 Notch1 notch receptor 1 gene DOID:62 aortic valve disease ISO RGD:737367 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: AORTIC VALVE DISEASE PMID:18593716|PMID:20951801|PMID:20981092|PMID:25260786|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441|PMID:31624253 8733413 Notch1 notch receptor 1 gene DOID:630 genetic disease ISO RGD:737367 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16025100|PMID:16199547|PMID:18660822|PMID:21457232|PMID:22326375|PMID:24728327|PMID:25132448|PMID:25741868|PMID:25963545|PMID:26820064|PMID:27283355|PMID:28492532|PMID:9336830 8733413 Notch1 notch receptor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:19597493|PMID:27760138 8733413 Notch1 notch receptor 1 gene DOID:6432 pulmonary hypertension ameliorates ISO RGD:10998 D RGD:9068941 20221110 RGD PMID:34739767|REF_RGD_ID:155646132 8733413 Notch1 notch receptor 1 gene DOID:649 prion disease ISO RGD:10998 D RGD:9068941 20200609 RGD PMID:15640354|REF_RGD_ID:13782159 8733413 Notch1 notch receptor 1 gene DOID:65 connective tissue disease ISO RGD:737367 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15472075|PMID:16614245|PMID:16729972|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:21457232|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24033266|PMID:24728327|PMID:24943832|PMID:25587027|PMID:25741868|PMID:26188975|PMID:26820064|PMID:26837699|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548|PMID:33914609|PMID:33994118 8733413 Notch1 notch receptor 1 gene DOID:863 nervous system disease ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 8733413 Notch1 notch receptor 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:10998 D RGD:9068941 20221110 RGD PMID:30787185|REF_RGD_ID:155663348 8733413 Notch1 notch receptor 1 gene DOID:9000713 Surgical Wound ameliorates ISO RGD:10998 D RGD:9068941 20221110 RGD associated with diabetes mellitus; PMID:30886104|REF_RGD_ID:155646129 8733413 Notch1 notch receptor 1 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:737367 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 8733413 Notch1 notch receptor 1 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:737367 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:25741868|PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3187 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18942116|REF_RGD_ID:2325310 8733413 Notch1 notch receptor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737367 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:15472075|PMID:16614245|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24728327|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28387797|PMID:28492532|PMID:29641532|PMID:30059548|PMID:30582441|PMID:35288444 8733413 Notch1 notch receptor 1 gene DOID:9002017 Folate-Responsive Megaloblastic Anemia ISO RGD:737367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia, folate-responsive 8733413 Notch1 notch receptor 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737367 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:16025100|PMID:25132448|PMID:25741868 8733413 Notch1 notch receptor 1 gene DOID:9002720 Splenomegaly ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25585350 8733413 Notch1 notch receptor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147571 8733413 Notch1 notch receptor 1 gene DOID:9002962 Adams-Oliver Syndrome 2 ISO RGD:737367 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 2 PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441 8733413 Notch1 notch receptor 1 gene DOID:9003191 Vascular Malformations ISO RGD:737367 D RGD:9068941 20221111 RGD protein:increased expression:intestine: PMID:24219762|REF_RGD_ID:155663361 8733413 Notch1 notch receptor 1 gene DOID:9003191 Vascular Malformations ISO RGD:737367 D RGD:9068941 20221111 RGD protein:increased expression:serum: PMID:21955427|REF_RGD_ID:155663363 8733413 Notch1 notch receptor 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 8733413 Notch1 notch receptor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:10998 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 8733413 Notch1 notch receptor 1 gene DOID:9004077 SHONE COMPLEX ISO RGD:737367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shone complex PMID:28492532 8733413 Notch1 notch receptor 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:737367 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532|PMID:33726816 8733413 Notch1 notch receptor 1 gene DOID:9004397 Calcification of Aortic Valve ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16025100 8733413 Notch1 notch receptor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 8733413 Notch1 notch receptor 1 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression ISO RGD:3187 D RGD:9068941 20221222 RGD PMID:31209505|REF_RGD_ID:155791448 8733413 Notch1 notch receptor 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:737367 D RGD:7240710 20180130 OMIM 8733413 Notch1 notch receptor 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:737367 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:12774039|PMID:15472075|PMID:15959515|PMID:16025100|PMID:16199547|PMID:1621771|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19597493|PMID:19635999|PMID:19668216|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22307742|PMID:22318994|PMID:22858860|PMID:23034536|PMID:23040356|PMID:23086750|PMID:23102684|PMID:23386033|PMID:23578328|PMID:23734977|PMID:23798201|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25104330|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25516202|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26785492|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27077170|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28125082|PMID:28166811|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28963436|PMID:28991257|PMID:29447731|PMID:29555671|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30115950|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:30919572|PMID:31624253|PMID:31633846|PMID:31654484|PMID:31866570|PMID:31941532|PMID:32277046|PMID:32748548|PMID:33064175|PMID:33110418|PMID:33208564|PMID:33247628|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098 8733413 Notch1 notch receptor 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 8733413 Notch1 notch receptor 1 gene DOID:9006175 Peritoneal Diseases ISO RGD:3187 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:20056840|REF_RGD_ID:2325288 8733413 Notch1 notch receptor 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3187 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 8733413 Notch1 notch receptor 1 gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:3187 D RGD:9068941 20221104 RGD PMID:32089723|REF_RGD_ID:155641250 8733413 Notch1 notch receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30394310 8733413 Notch1 notch receptor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 8733413 Notch1 notch receptor 1 gene DOID:9008212 Diabetic Foot ISO RGD:737367 D RGD:9068941 20221110 RGD protein:increased expression:skin, epidermis: PMID:30886104|REF_RGD_ID:155646129 8733413 Notch1 notch receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 8733413 Notch1 notch receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696|PMID:21679465 8733413 Notch1 notch receptor 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:737367 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:15472075|PMID:16614245|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24728327|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28387797|PMID:28492532|PMID:29641532|PMID:30059548|PMID:30582441|PMID:35288444 8733413 Notch1 notch receptor 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:737367 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24728327|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532|PMID:30511478 8733451 Tmem106b transmembrane protein 106B gene DOID:0070405 hypomyelinating leukodystrophy 16 ISO RGD:1603394 D RGD:7240710 20190315 OMIM 8733451 Tmem106b transmembrane protein 106B gene DOID:0070405 hypomyelinating leukodystrophy 16 ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 16 PMID:10338095|PMID:10737981|PMID:16941474|PMID:17309651|PMID:25741868|PMID:28492532|PMID:29186371|PMID:29194508|PMID:29444210|PMID:32572497|PMID:32595021 8733451 Tmem106b transmembrane protein 106B gene DOID:0080600 COVID-19 ISO RGD:1603394 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33686287 8733451 Tmem106b transmembrane protein 106B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8733451 Tmem106b transmembrane protein 106B gene DOID:630 genetic disease ISO RGD:1603394 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8733451 Tmem106b transmembrane protein 106B gene DOID:8725 vascular dementia ISO RGD:1603394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 8733451 Tmem106b transmembrane protein 106B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154673 8733471 Mrpl43 mitochondrial ribosomal protein L43 gene DOID:630 genetic disease ISO RGD:1316878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733480 Ucn2 urocortin 2 gene DOID:0060180 colitis ISO RGD:620765 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (rat) PMID:17586086|REF_RGD_ID:5131259 8733480 Ucn2 urocortin 2 gene DOID:10763 hypertension ISO RGD:1348669 D RGD:9068941 20200609 RGD human protein in rat model PMID:19204182|REF_RGD_ID:5508437 8733480 Ucn2 urocortin 2 gene DOID:1936 atherosclerosis ISO RGD:1348669 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery, endothelium (human) PMID:16026900|REF_RGD_ID:5508308 8733480 Ucn2 urocortin 2 gene DOID:6000 congestive heart failure ISO RGD:1348669 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16330704 8733480 Ucn2 urocortin 2 gene DOID:6000 congestive heart failure ISO RGD:1348669 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium (human) PMID:12076554|REF_RGD_ID:5508210 8733480 Ucn2 urocortin 2 gene DOID:630 genetic disease ISO RGD:1348669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733480 Ucn2 urocortin 2 gene DOID:9001109 Anorexia ISO RGD:1348669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17627984 8733480 Ucn2 urocortin 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1348669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8733480 Ucn2 urocortin 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1348669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8733485 Lamp1 lysosomal associated membrane protein 1 gene DOID:0040084 Streptococcus pneumonia ISO RGD:10855 D RGD:9068941 20201117 RGD protein:increased expression:lung, natural killer cell (mouse) PMID:21887255|REF_RGD_ID:40818252 8733485 Lamp1 lysosomal associated membrane protein 1 gene DOID:2222 factor X deficiency ISO RGD:737544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8733485 Lamp1 lysosomal associated membrane protein 1 gene DOID:630 genetic disease ISO RGD:737544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733508 Meig1 meiosis/spermiogenesis associated 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1348116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8733508 Meig1 meiosis/spermiogenesis associated 1 gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1348116 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:14744996|PMID:15071507|PMID:19912631|PMID:21664875|PMID:25741868|PMID:26123418|PMID:28492532 8733508 Meig1 meiosis/spermiogenesis associated 1 gene DOID:630 genetic disease ISO RGD:1348116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733522 Ggt5 gamma-glutamyltransferase 5 gene DOID:1826 epilepsy ISO RGD:733414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8733522 Ggt5 gamma-glutamyltransferase 5 gene DOID:5419 schizophrenia ISO RGD:733414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8733522 Ggt5 gamma-glutamyltransferase 5 gene DOID:630 genetic disease ISO RGD:733414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733522 Ggt5 gamma-glutamyltransferase 5 gene DOID:9005172 Lung Neoplasms ISO RGD:2684 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:9374738|REF_RGD_ID:69846 8733552 St8sia4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603321 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8733552 St8sia4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:630 genetic disease ISO RGD:1603321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733552 St8sia4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8733552 St8sia4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603321 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8733562 LOC102009757 ubiquinol-cytochrome-c reductase complex assembly factor 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1315803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8733562 LOC102009757 ubiquinol-cytochrome-c reductase complex assembly factor 2 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1315803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8733562 LOC102009757 ubiquinol-cytochrome-c reductase complex assembly factor 2 gene DOID:0080116 mitochondrial complex III deficiency nuclear type 7 ISO RGD:1315803 D RGD:7240710 20180130 OMIM 8733562 LOC102009757 ubiquinol-cytochrome-c reductase complex assembly factor 2 gene DOID:0080116 mitochondrial complex III deficiency nuclear type 7 ISO RGD:1315803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 7 PMID:24385928|PMID:25741868|PMID:28492532 8733562 LOC102009757 ubiquinol-cytochrome-c reductase complex assembly factor 2 gene DOID:630 genetic disease ISO RGD:1315803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733571 Stk11 serine/threonine kinase 11 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1318548 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MYH-associated polyposis PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991 8733571 Stk11 serine/threonine kinase 11 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1318548 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli PMID:25186627|PMID:25741868|PMID:26010451|PMID:26467025|PMID:26898890|PMID:27756406|PMID:28135145|PMID:28492532|PMID:30287823|PMID:30857943|PMID:31159747|PMID:31819097|PMID:32068069|PMID:32490123|PMID:33471991 8733571 Stk11 serine/threonine kinase 11 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1318548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318548 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:25741868 8733571 Stk11 serine/threonine kinase 11 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1318548 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991 8733571 Stk11 serine/threonine kinase 11 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:26080840|PMID:26295973|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:1318548 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:25741868|PMID:28492532|PMID:30287823 8733571 Stk11 serine/threonine kinase 11 gene DOID:10534 stomach cancer ISO RGD:1318548 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:15188174|PMID:16287113|PMID:28492532|PMID:30287823|PMID:32980694|PMID:36988593 8733571 Stk11 serine/threonine kinase 11 gene DOID:10763 hypertension ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 8733571 Stk11 serine/threonine kinase 11 gene DOID:1319 brain cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain cancer PMID:25741868|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:1380 endometrial cancer ISO RGD:1318548 D RGD:9068941 20200609 RGD PMID:18245476|REF_RGD_ID:2291944 8733571 Stk11 serine/threonine kinase 11 gene DOID:1380 endometrial cancer ISO RGD:1318549 D RGD:9068941 20200609 RGD PMID:18245476|REF_RGD_ID:2291944 8733571 Stk11 serine/threonine kinase 11 gene DOID:1380 endometrial cancer ISO RGD:1318549 D RGD:9068941 20220825 MouseDO OMIM:608089 8733571 Stk11 serine/threonine kinase 11 gene DOID:14566 disease of cellular proliferation ISO RGD:1318548 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:10208439|PMID:10408777|PMID:10429654|PMID:10676634|PMID:11668633|PMID:12865922|PMID:15188174|PMID:15863673|PMID:16287113|PMID:16582077|PMID:16707622|PMID:17026623|PMID:17676035|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20435009|PMID:21191700|PMID:23399955|PMID:23555315|PMID:23639312|PMID:23718779|PMID:24857785|PMID:24998845|PMID:25157968|PMID:25226294|PMID:25343854|PMID:25741868|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:27081308|PMID:28152038|PMID:28492532|PMID:28977883|PMID:30287823|PMID:30528796|PMID:31159747|PMID:32566746|PMID:33471991|PMID:9731485 8733571 Stk11 serine/threonine kinase 11 gene DOID:1520 colon carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:14623934|PMID:15121768|PMID:25186949|PMID:25741868|PMID:26467025|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:1612 breast cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17576681|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823|PMID:9536098 8733571 Stk11 serine/threonine kinase 11 gene DOID:1612 breast cancer ISO RGD:1318548 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823 8733571 Stk11 serine/threonine kinase 11 gene DOID:1612 breast cancer ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10429655|PMID:12533684|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:20082862|PMID:20393878|PMID:20722467|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24728327|PMID:24793789|PMID:24830819|PMID:25142776|PMID:25179843|PMID:25186627|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28577310|PMID:28821472|PMID:28873162|PMID:30287823|PMID:30426508|PMID:30833958|PMID:33471991 8733571 Stk11 serine/threonine kinase 11 gene DOID:1749 squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8733571 Stk11 serine/threonine kinase 11 gene DOID:1793 pancreatic cancer ISO RGD:1318548 D RGD:7240710 20180130 OMIM 8733571 Stk11 serine/threonine kinase 11 gene DOID:1909 melanoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma PMID:10201537|PMID:10208439|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28821472|PMID:28873162|PMID:29458332 8733571 Stk11 serine/threonine kinase 11 gene DOID:1909 melanoma ISO RGD:1318548 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Melanoma PMID:10208439|PMID:27467201|PMID:32647375 8733571 Stk11 serine/threonine kinase 11 gene DOID:219 colon cancer ISO RGD:1318548 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:2394 ovarian cancer ISO RGD:1318548 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10429654|PMID:10676634|PMID:17711506|PMID:18594528|PMID:19892943|PMID:21191700|PMID:23555315|PMID:24857785|PMID:25157968|PMID:25343854|PMID:25741868|PMID:26164066|PMID:26319365|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26976419|PMID:27153395|PMID:27311873|PMID:27978560|PMID:28492532|PMID:28977883|PMID:30093976|PMID:30287823|PMID:31775759|PMID:32566746|PMID:32720237|PMID:32980694|PMID:33471991|PMID:34011629|PMID:34326862|PMID:35264596|PMID:37323311 8733571 Stk11 serine/threonine kinase 11 gene DOID:2871 endometrial carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:299 adenocarcinoma ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676035 8733571 Stk11 serine/threonine kinase 11 gene DOID:2998 testicular cancer ISO RGD:1318548 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cancer of the testes | ClinVar Annotator: match by term: Malignant tumor of testis PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:33471991|PMID:9605748|PMID:9887330 8733571 Stk11 serine/threonine kinase 11 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma PMID:25741868|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:3459 breast carcinoma ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:16287113|PMID:17676035|PMID:24033266|PMID:25186627|PMID:25452441|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:28492532|PMID:28873162|PMID:29785153|PMID:30092773|PMID:30287823|PMID:30426508|PMID:31159747|PMID:33309985|PMID:34849607 8733571 Stk11 serine/threonine kinase 11 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26887594 8733571 Stk11 serine/threonine kinase 11 gene DOID:3701 cervical mucinous adenocarcinoma disease_progression ISO RGD:1318548 D RGD:9068941 20200609 RGD DNA:mutations PMID:12533684|REF_RGD_ID:2291947 8733571 Stk11 serine/threonine kinase 11 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1318548 D RGD:7240710 20180130 OMIM 8733571 Stk11 serine/threonine kinase 11 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1318548 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lentiginosis, perioral | ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:10208439|PMID:10217080|PMID:10353780|PMID:10362809|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11103790|PMID:11297520|PMID:11389158|PMID:11430832|PMID:11668633|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12829253|PMID:12865922|PMID:14623934|PMID:14970844|PMID:15121768|PMID:15188174|PMID:15200509|PMID:15399020|PMID:15561763|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16648371|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18594528|PMID:18687677|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19250387|PMID:19340305|PMID:19727776|PMID:19763152|PMID:19892943|PMID:19908348|PMID:20082862|PMID:20223037|PMID:20307669|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20616022|PMID:20623358|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:21411391|PMID:21816872|PMID:22382802|PMID:22406018|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22775437|PMID:22942091|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23426006|PMID:23515270|PMID:23527983|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24054548|PMID:24260271|PMID:24304607|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24949325|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25841653|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26625312|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27550049|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27721366|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28231849|PMID:28303455|PMID:28391433|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29419869|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30334930|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:30997075|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31515776|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32508039|PMID:32566746|PMID:32573125|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35189935|PMID:35264596|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:37323311|PMID:37377590 8733571 Stk11 serine/threonine kinase 11 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1318548 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lentiginosis, perioral | ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:837816|PMID:9399902|PMID:9425897|PMID:9428765|PMID:9536098|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9934767 8733571 Stk11 serine/threonine kinase 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:15800014|PMID:17676035|PMID:25741868|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:15800014|PMID:17676035|PMID:19892943|PMID:25741868|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:25157968 8733571 Stk11 serine/threonine kinase 11 gene DOID:3910 lung adenocarcinoma ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10408777|PMID:12865922|PMID:15863673|PMID:16287113|PMID:16582077|PMID:17026623|PMID:17676035|PMID:19892943|PMID:20393878|PMID:20435009|PMID:23399955|PMID:23718779|PMID:25157968|PMID:25226294|PMID:25741868|PMID:26056085|PMID:26467025|PMID:27081308|PMID:27993330|PMID:28152038|PMID:28492532|PMID:30528796|PMID:31159747 8733571 Stk11 serine/threonine kinase 11 gene DOID:4001 ovarian carcinoma susceptibility ISO RGD:1318548 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, missense mutation:p.P281L PMID:10429654|REF_RGD_ID:2298556 8733571 Stk11 serine/threonine kinase 11 gene DOID:4606 bile duct cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:4905 pancreatic carcinoma ISO RGD:1318548 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10362809|PMID:11430832|PMID:15188174|PMID:15800014|PMID:16287113|PMID:19340305|PMID:20393878|PMID:23399955|PMID:23555315|PMID:23893923|PMID:24033266|PMID:24307375|PMID:24652667|PMID:24728327|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26056085|PMID:26467025|PMID:27615706|PMID:28135145|PMID:28492532|PMID:29748005|PMID:30287823|PMID:30374176|PMID:30982232|PMID:31159747|PMID:32068069|PMID:32566746|PMID:33471991|PMID:35171259|PMID:36243179 8733571 Stk11 serine/threonine kinase 11 gene DOID:5339 cyclic hematopoiesis ISO RGD:1318548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1318548 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:25741868|PMID:26467025|PMID:28492532|PMID:31775759|PMID:34326862 8733571 Stk11 serine/threonine kinase 11 gene DOID:5557 testicular germ cell cancer ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8733571 Stk11 serine/threonine kinase 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:24033266|PMID:24307375|PMID:24728327|PMID:24857785|PMID:25157968|PMID:25343854|PMID:25741868|PMID:26010451|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:28135145|PMID:28492532|PMID:28577310|PMID:28873162|PMID:28977883|PMID:30287823|PMID:30982232|PMID:32566746 8733571 Stk11 serine/threonine kinase 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991 8733571 Stk11 serine/threonine kinase 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318548 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991|PMID:34849607 8733571 Stk11 serine/threonine kinase 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318548 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991|PMID:34849607|PMID:35171259|PMID:36243179 8733571 Stk11 serine/threonine kinase 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318548 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991|PMID:34439939|PMID:34849607|PMID:35171259|PMID:36243179 8733571 Stk11 serine/threonine kinase 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318548 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10429654|PMID:10676634|PMID:11430832|PMID:15800014|PMID:16287113|PMID:17026623|PMID:17711506|PMID:18594528|PMID:19892943|PMID:20393878|PMID:20722467|PMID:21191700|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24307375|PMID:24468202|PMID:24728327|PMID:24830819|PMID:24857785|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25343854|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26164066|PMID:26467025|PMID:26692440|PMID:26837502|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28577310|PMID:28821472|PMID:28873162|PMID:28977883|PMID:29338689|PMID:29748005|PMID:30287823|PMID:30426508|PMID:30982232|PMID:31269945|PMID:32566746|PMID:33471991|PMID:34326862|PMID:34439939|PMID:34849607|PMID:35171259|PMID:36243179 8733571 Stk11 serine/threonine kinase 11 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1318548 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intestinal polyposis PMID:25741868|PMID:28492532|PMID:30287823|PMID:32980694 8733571 Stk11 serine/threonine kinase 11 gene DOID:630 genetic disease ISO RGD:1318548 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10441497|PMID:12552571|PMID:12865922|PMID:15121768|PMID:15188174|PMID:15863673|PMID:16287113|PMID:16582077|PMID:16707622|PMID:17404884|PMID:19727776|PMID:23415580|PMID:25741868|PMID:28492532|PMID:30528796|PMID:32489267|PMID:37377590|PMID:9809980 8733571 Stk11 serine/threonine kinase 11 gene DOID:6846 familial melanoma ISO RGD:1318548 D RGD:7240710 20240221 OMIM 8733571 Stk11 serine/threonine kinase 11 gene DOID:6846 familial melanoma ISO RGD:1318548 D RGD:8554872 20240220 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 PMID:10201537|PMID:10208439|PMID:10676634|PMID:11668633|PMID:15188174|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25157968|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26928227|PMID:26979979|PMID:27467201|PMID:28492532|PMID:28944238|PMID:29045518|PMID:30093976|PMID:30287823|PMID:30885352|PMID:32647375|PMID:33020649|PMID:33471991|PMID:34849607|PMID:9536098|PMID:9887330 8733571 Stk11 serine/threonine kinase 11 gene DOID:6846 familial melanoma ISO RGD:1318548 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 PMID:10201537|PMID:10208439|PMID:10676634|PMID:11668633|PMID:15188174|PMID:16287113|PMID:16407837|PMID:17576681|PMID:19892943|PMID:23399955|PMID:25157968|PMID:25452441|PMID:25503501|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26467025|PMID:26928227|PMID:26979979|PMID:27467201|PMID:28492532|PMID:28944238|PMID:29045518|PMID:30093976|PMID:30287823|PMID:30885352|PMID:32647375|PMID:33020649|PMID:33471991|PMID:34849607|PMID:35264596|PMID:9536098|PMID:9887330 8733571 Stk11 serine/threonine kinase 11 gene DOID:687 hepatoblastoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:7998 hyperthyroidism ISO RGD:1308653 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle: PMID:18669938|REF_RGD_ID:10059691 8733571 Stk11 serine/threonine kinase 11 gene DOID:8634 prostate carcinoma in situ ISO RGD:1318549 D RGD:9068941 20200609 RGD PMID:18381428|REF_RGD_ID:2291943 8733571 Stk11 serine/threonine kinase 11 gene DOID:8923 skin melanoma ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY PMID:10201537|PMID:10208439|PMID:23555315|PMID:23993471|PMID:24033266|PMID:24830819|PMID:25142776|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25473901|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27443514|PMID:27621404|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28821472|PMID:28873162|PMID:29458332 8733571 Stk11 serine/threonine kinase 11 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1318548 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:decreased expression PMID:12114407|REF_RGD_ID:2291948 8733571 Stk11 serine/threonine kinase 11 gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:10408777|PMID:12865922|PMID:16287113|PMID:16582077|PMID:17026623|PMID:20435009|PMID:21189378|PMID:23399955|PMID:23718779|PMID:25226294|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1318548 D RGD:7240710 20180130 OMIM 8733571 Stk11 serine/threonine kinase 11 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis 8733571 Stk11 serine/threonine kinase 11 gene DOID:9003936 Cardiomegaly ISO RGD:1318549 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:17098823|REF_RGD_ID:1601391 8733571 Stk11 serine/threonine kinase 11 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 8733571 Stk11 serine/threonine kinase 11 gene DOID:9005172 Lung Neoplasms ISO RGD:1318548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676035 8733571 Stk11 serine/threonine kinase 11 gene DOID:9005963 Distal Arthrogryposis, with Impaired Proprioception and Touch ISO RGD:1318548 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch PMID:25741868|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1318548 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532|PMID:29419869|PMID:30334930 8733571 Stk11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17404884|PMID:17576681|PMID:17676035|PMID:17711506|PMID:18321849|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28640387|PMID:28724667|PMID:28767289|PMID:28821472|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29641532|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30455982|PMID:30528796|PMID:30669267|PMID:30982232|PMID:31159747|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31592449|PMID:31712642|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32566746|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348 8733571 Stk11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32957588|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34849607|PMID:35467778|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 8733571 Stk11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:36988593|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 8733571 Stk11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:36315513|PMID:36988593|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 8733571 Stk11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25326637|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31206626|PMID:31217475|PMID:31269945|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34284872|PMID:34849607|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 8733571 Stk11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31206626|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34849607|PMID:35264596|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 8733571 Stk11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:31159747|PMID:31206626|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32490123|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 8733571 Stk11 serine/threonine kinase 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318548 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10208439|PMID:10353780|PMID:10408777|PMID:10429654|PMID:10429655|PMID:10441497|PMID:10623683|PMID:10676634|PMID:10780518|PMID:10874301|PMID:11297520|PMID:11389158|PMID:11430832|PMID:12112668|PMID:12372054|PMID:12533684|PMID:12552571|PMID:12865922|PMID:14623934|PMID:15121768|PMID:15188174|PMID:15399020|PMID:15608654|PMID:15617552|PMID:15800014|PMID:15863673|PMID:15987703|PMID:16110486|PMID:16199547|PMID:16287113|PMID:16407375|PMID:16407837|PMID:16582077|PMID:16707622|PMID:17010210|PMID:17026623|PMID:17319781|PMID:17404884|PMID:17576681|PMID:17637250|PMID:17676035|PMID:17711506|PMID:17912359|PMID:17924967|PMID:17950019|PMID:18321849|PMID:18495044|PMID:18594528|PMID:18687677|PMID:18846624|PMID:18854309|PMID:18854318|PMID:19145097|PMID:19340305|PMID:19727776|PMID:19892943|PMID:19908348|PMID:19952941|PMID:20082862|PMID:20223037|PMID:20393878|PMID:20435009|PMID:20497868|PMID:20559149|PMID:20722467|PMID:21118512|PMID:21189378|PMID:21191700|PMID:22493416|PMID:22543132|PMID:22679258|PMID:22942091|PMID:23056405|PMID:23240097|PMID:23399955|PMID:23415580|PMID:23515270|PMID:23555315|PMID:23577667|PMID:23584481|PMID:23612973|PMID:23639312|PMID:23672593|PMID:23718779|PMID:23757202|PMID:23893923|PMID:23993471|PMID:24033266|PMID:24037887|PMID:24260271|PMID:24307375|PMID:24468202|PMID:24604241|PMID:24652667|PMID:24728327|PMID:24793789|PMID:24830819|PMID:24857785|PMID:24998845|PMID:25117502|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25179843|PMID:25186627|PMID:25186949|PMID:25226294|PMID:25303977|PMID:25343854|PMID:25452441|PMID:25473901|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25980754|PMID:26010451|PMID:26056085|PMID:26080840|PMID:26123645|PMID:26164066|PMID:26225618|PMID:26295973|PMID:26319365|PMID:26354930|PMID:26386697|PMID:26430231|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26607058|PMID:26692440|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26928227|PMID:26976419|PMID:26979979|PMID:27043212|PMID:27060149|PMID:27081308|PMID:27153395|PMID:27300552|PMID:27311873|PMID:27443514|PMID:27467201|PMID:27615706|PMID:27621404|PMID:27696107|PMID:27756406|PMID:27821076|PMID:27852271|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28185117|PMID:28196074|PMID:28199989|PMID:28202063|PMID:28492532|PMID:28521409|PMID:28560011|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28869103|PMID:28873162|PMID:28944238|PMID:28977883|PMID:29045518|PMID:29192238|PMID:29325035|PMID:29338689|PMID:29368341|PMID:29399144|PMID:29458332|PMID:29470806|PMID:29496690|PMID:29506128|PMID:29641532|PMID:29698444|PMID:29748005|PMID:29785153|PMID:29973652|PMID:30092773|PMID:30093976|PMID:30267214|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30455982|PMID:30476936|PMID:30528796|PMID:30594553|PMID:30669267|PMID:30689838|PMID:30833958|PMID:30857943|PMID:30883245|PMID:30885352|PMID:30982232|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31217475|PMID:31269945|PMID:31383922|PMID:31422818|PMID:31465090|PMID:31469826|PMID:31554794|PMID:31592449|PMID:31712642|PMID:31742824|PMID:31775759|PMID:31819097|PMID:31871109|PMID:32068069|PMID:32390703|PMID:32459922|PMID:32462036|PMID:32489267|PMID:32490123|PMID:32508039|PMID:32566746|PMID:32647375|PMID:32658311|PMID:32720237|PMID:32957588|PMID:32980694|PMID:33020649|PMID:33193653|PMID:33248711|PMID:33272240|PMID:33309985|PMID:33471991|PMID:34011629|PMID:34103092|PMID:34284872|PMID:34326862|PMID:34439939|PMID:34761457|PMID:34849607|PMID:35171259|PMID:35264596|PMID:35467778|PMID:36243179|PMID:36315513|PMID:36988593|PMID:37323311|PMID:37377590|PMID:9399902|PMID:9428765|PMID:9536098|PMID:9605748|PMID:9731485|PMID:9760200|PMID:9809980|PMID:9837816|PMID:9850045|PMID:9887330|PMID:9908348|PMID:9934767 8733571 Stk11 serine/threonine kinase 11 gene DOID:9007502 Brain Neoplasms ISO RGD:1318548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant brain neoplasm PMID:25741868|PMID:28492532 8733571 Stk11 serine/threonine kinase 11 gene DOID:9007692 Insulin Resistance ISO RGD:1308653 D RGD:9068941 20200609 RGD associated with obesity;protein:decreased expression:gastrocnemius PMID:16352671|REF_RGD_ID:1601389 8733571 Stk11 serine/threonine kinase 11 gene DOID:9970 obesity ISO RGD:1308653 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:16352671|REF_RGD_ID:1601389 8733592 Rdh11 retinol dehydrogenase 11 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1323753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 8733592 Rdh11 retinol dehydrogenase 11 gene DOID:607 paraplegia ISO RGD:1323753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8733592 Rdh11 retinol dehydrogenase 11 gene DOID:630 genetic disease ISO RGD:1323753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8733592 Rdh11 retinol dehydrogenase 11 gene DOID:9000849 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome ISO RGD:1323753 D RGD:7240710 20180130 OMIM 8733592 Rdh11 retinol dehydrogenase 11 gene DOID:9000849 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome ISO RGD:1323753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome PMID:24916380|PMID:25741868|PMID:28492532 8733606 Hmcn1 hemicentin 1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:1605323 D RGD:7240710 20180130 OMIM 8733606 Hmcn1 hemicentin 1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:1605323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 PMID:14570714|PMID:17216616|PMID:17576681|PMID:25133751|PMID:25338956|PMID:25741868|PMID:25986072|PMID:27007659|PMID:28492532|PMID:9536098|PMID:9715689 8733606 Hmcn1 hemicentin 1 gene DOID:10283 prostate cancer ISO RGD:1605323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8733606 Hmcn1 hemicentin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8733606 Hmcn1 hemicentin 1 gene DOID:4448 macular degeneration ISO RGD:1605323 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:25741868|PMID:28492532 8733606 Hmcn1 hemicentin 1 gene DOID:630 genetic disease ISO RGD:1605323 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8733606 Hmcn1 hemicentin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8733717 Dynlt2b dynein light chain Tctex-type 2B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1604497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8733717 Dynlt2b dynein light chain Tctex-type 2B gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604497 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8733717 Dynlt2b dynein light chain Tctex-type 2B gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 8733717 Dynlt2b dynein light chain Tctex-type 2B gene DOID:12849 autistic disorder ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8733717 Dynlt2b dynein light chain Tctex-type 2B gene DOID:5419 schizophrenia ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8733717 Dynlt2b dynein light chain Tctex-type 2B gene DOID:630 genetic disease ISO RGD:1604497 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733717 Dynlt2b dynein light chain Tctex-type 2B gene DOID:9001805 Short-Rib Thoracic Dysplasia 17 with or without Polydactyly ISO RGD:1604497 D RGD:7240710 20190315 OMIM 8733717 Dynlt2b dynein light chain Tctex-type 2B gene DOID:9001805 Short-Rib Thoracic Dysplasia 17 with or without Polydactyly ISO RGD:1604497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly PMID:25741868|PMID:26044572|PMID:28492532 8733730 Slc25a43 solute carrier family 25 member 43 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8733730 Slc25a43 solute carrier family 25 member 43 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1605262 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8733730 Slc25a43 solute carrier family 25 member 43 gene DOID:12849 autistic disorder ISO RGD:1605262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8733730 Slc25a43 solute carrier family 25 member 43 gene DOID:630 genetic disease ISO RGD:1605262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733744 Tex38 testis expressed 38 gene DOID:630 genetic disease ISO RGD:2298822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733759 Tmed1 transmembrane p24 trafficking protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8733759 Tmed1 transmembrane p24 trafficking protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8733759 Tmed1 transmembrane p24 trafficking protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1354453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8733759 Tmed1 transmembrane p24 trafficking protein 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1354453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 8733759 Tmed1 transmembrane p24 trafficking protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1354453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8733759 Tmed1 transmembrane p24 trafficking protein 1 gene DOID:630 genetic disease ISO RGD:1354453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733781 Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta gene DOID:11832 visual epilepsy ISO RGD:61998 D RGD:9068941 20230202 RGD PMID:12786973|REF_RGD_ID:2298728 8733781 Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta gene DOID:2234 focal epilepsy ISO RGD:737527 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8733781 Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta gene DOID:2316 brain ischemia ISO RGD:61998 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:15902199|REF_RGD_ID:2306031 8733781 Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:737527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312607 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:17576681|PMID:19878917|PMID:19896113|PMID:19966281|PMID:20300565|PMID:25741868|PMID:27803854|PMID:28041643|PMID:28492532|PMID:29074561|PMID:33691579|PMID:9536098 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1312607 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:0110867 congenital stationary night blindness 1C ISO RGD:1312607 D RGD:7240710 20180130 OMIM 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:0110867 congenital stationary night blindness 1C ISO RGD:1312607 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1C | ClinVar Annotator: match by term: TRPM1-related condition PMID:16199547|PMID:19436059|PMID:19878917|PMID:19896109|PMID:19896113|PMID:19966281|PMID:20300565|PMID:22277662|PMID:25307992|PMID:25741868|PMID:25999674|PMID:26493165|PMID:26872967|PMID:27803854|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29522070|PMID:30718709|PMID:33691579|PMID:35457050|PMID:35633130 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:1059 intellectual disability ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:12849 autistic disorder ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:3070 high grade glioma ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:5419 schizophrenia ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:630 genetic disease ISO RGD:1312607 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:8501 fundus dystrophy ISO RGD:1312607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:19896109|PMID:19896113|PMID:19966281|PMID:20300565|PMID:23714322|PMID:28492532|PMID:28559085|PMID:29522070 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1312607 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.59080C>T (rs11070811) (human) PMID:21439949|REF_RGD_ID:7175561 8733791 Trpm1 transient receptor potential cation channel subfamily M member 1 gene DOID:9256 colorectal cancer ISO RGD:1312607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 8733834 Zfp28 ZFP28 zinc finger protein gene DOID:630 genetic disease ISO RGD:1347669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733865 Znf331 zinc finger protein 331 gene DOID:37 skin disease ISO RGD:1344097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8733865 Znf331 zinc finger protein 331 gene DOID:630 genetic disease ISO RGD:1344097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733865 Znf331 zinc finger protein 331 gene DOID:9007964 Arsenic Poisoning ISO RGD:1344097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8733871 Vapb VAMP associated protein B and C gene DOID:0050752 amyotrophic lateral sclerosis type 8 ISO RGD:68452 D RGD:7240710 20180130 OMIM 8733871 Vapb VAMP associated protein B and C gene DOID:0050752 amyotrophic lateral sclerosis type 8 ISO RGD:68452 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 PMID:15372378|PMID:16187141|PMID:16967488|PMID:17576681|PMID:17804640|PMID:18322265|PMID:18677189|PMID:19183264|PMID:20008544|PMID:20377183|PMID:20447143|PMID:20577002|PMID:20940299|PMID:21275991|PMID:21685205|PMID:21933185|PMID:22131369|PMID:22258555|PMID:22454507|PMID:22878164|PMID:23333387|PMID:23446633|PMID:23771029|PMID:23971766|PMID:24212516|PMID:24326187|PMID:24681403|PMID:24792378|PMID:25741868|PMID:26362251|PMID:26467025|PMID:26566915|PMID:27978769|PMID:28492532|PMID:35896380|PMID:9536098 8733871 Vapb VAMP associated protein B and C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:68452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 8733871 Vapb VAMP associated protein B and C gene DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ISO RGD:68452 D RGD:7240710 20180130 OMIM 8733871 Vapb VAMP associated protein B and C gene DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ISO RGD:68452 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant PMID:15372378|PMID:16187141|PMID:16967488|PMID:17804640|PMID:18322265|PMID:18677189|PMID:19183264|PMID:20008544|PMID:20377183|PMID:20447143|PMID:20577002|PMID:21275991|PMID:21685205|PMID:21933185|PMID:22131369|PMID:22258555|PMID:22454507|PMID:22878164|PMID:23333387|PMID:23446633|PMID:23771029|PMID:23971766|PMID:24212516|PMID:24681403|PMID:25741868|PMID:26467025|PMID:26566915|PMID:27978769|PMID:28492532|PMID:35896380 8733871 Vapb VAMP associated protein B and C gene DOID:12377 spinal muscular atrophy ISO RGD:68452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant 8733871 Vapb VAMP associated protein B and C gene DOID:12377 spinal muscular atrophy onset ISO RGD:68452 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P56S (human) PMID:15372378|REF_RGD_ID:5688230 8733871 Vapb VAMP associated protein B and C gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68452 D RGD:9068941 20220811 RGD DNA:missense mutation:cds:p.P56S (human) PMID:15372378|REF_RGD_ID:5688230 8733871 Vapb VAMP associated protein B and C gene DOID:630 genetic disease ISO RGD:68452 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15372378|PMID:16187141|PMID:16967488|PMID:17576681|PMID:17804640|PMID:21275991|PMID:22878164|PMID:23771029|PMID:23971766|PMID:24326187|PMID:24681403|PMID:24792378|PMID:25741868|PMID:26362251|PMID:26467025|PMID:28492532|PMID:35896380|PMID:9536098 8733880 Fam89b family with sequence similarity 89 member B gene DOID:1059 intellectual disability ISO RGD:1606565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8733880 Fam89b family with sequence similarity 89 member B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8733880 Fam89b family with sequence similarity 89 member B gene DOID:2746 glycogen storage disease V ISO RGD:1606565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8733880 Fam89b family with sequence similarity 89 member B gene DOID:3070 high grade glioma ISO RGD:1606565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8733880 Fam89b family with sequence similarity 89 member B gene DOID:630 genetic disease ISO RGD:1606565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733880 Fam89b family with sequence similarity 89 member B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8733880 Fam89b family with sequence similarity 89 member B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8733887 CUNH1orf174 chromosome unknown C1orf174 homolog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8733887 CUNH1orf174 chromosome unknown C1orf174 homolog gene DOID:11372 megacolon ISO RGD:1603248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8733887 CUNH1orf174 chromosome unknown C1orf174 homolog gene DOID:630 genetic disease ISO RGD:1603248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733887 CUNH1orf174 chromosome unknown C1orf174 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8733895 Josd1 Josephin domain containing 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8733895 Josd1 Josephin domain containing 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1604837 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8733895 Josd1 Josephin domain containing 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1604837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8733895 Josd1 Josephin domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1604837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8733895 Josd1 Josephin domain containing 1 gene DOID:630 genetic disease ISO RGD:1604837 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733917 Fbln7 fibulin 7 gene DOID:630 genetic disease ISO RGD:1601826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733930 Cep170b centrosomal protein 170B gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1345091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8733930 Cep170b centrosomal protein 170B gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1345091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8733930 Cep170b centrosomal protein 170B gene DOID:1682 congenital heart disease ISO RGD:1345091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:23087211|PMID:25741868|PMID:31680349 8733930 Cep170b centrosomal protein 170B gene DOID:630 genetic disease ISO RGD:1345091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8733975 Psen1 presenilin 1 gene DOID:0050700 cardiomyopathy ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29068127 8733975 Psen1 presenilin 1 gene DOID:0081292 traumatic brain injury ISO RGD:735973 D RGD:9068941 20200609 RGD PMID:18240300|REF_RGD_ID:13801189 8733975 Psen1 presenilin 1 gene DOID:0110040 Alzheimer's disease 4 ISO RGD:731724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 PMID:10468510|PMID:11395394|PMID:12552037|PMID:14743455|PMID:15205973|PMID:16267640|PMID:17188713|PMID:20301414|PMID:23539189|PMID:25108559|PMID:26410308|PMID:26467025|PMID:27014028|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:29494861|PMID:29661148|PMID:30045758|PMID:30528841|PMID:30598257|PMID:31109937|PMID:32917274|PMID:34389718|PMID:8910898|PMID:9189043|PMID:9437013|PMID:9804121 8733975 Psen1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:7240710 20180130 OMIM 8733975 Psen1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:10090481|PMID:10327206|PMID:10401002|PMID:10430510|PMID:10441572|PMID:10448055|PMID:10468510|PMID:10525535|PMID:10548420|PMID:10594046|PMID:10631141|PMID:10643802|PMID:10720282|PMID:10764737|PMID:10811883|PMID:11027672|PMID:11070093|PMID:11079548|PMID:11094121|PMID:11094128|PMID:11102478|PMID:11124426|PMID:11126202|PMID:11198283|PMID:11389157|PMID:11395394|PMID:11402113|PMID:11432849|PMID:11504726|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11710891|PMID:11796781|PMID:11836371|PMID:11895378|PMID:11959395|PMID:11978814|PMID:12048239|PMID:12119298|PMID:12192622|PMID:12370477|PMID:12433263|PMID:12484344|PMID:12493737|PMID:12552037|PMID:12660785|PMID:12752408|PMID:12805290|PMID:12810495|PMID:12817569|PMID:12885573|PMID:12891668|PMID:14557582|PMID:14743455|PMID:14769392|PMID:14966176|PMID:15003276|PMID:15004326|PMID:15115757|PMID:15122701|PMID:15205973|PMID:15337637|PMID:15534260|PMID:15622541|PMID:15718035|PMID:15772361|PMID:15776278|PMID:16033913|PMID:16116115|PMID:16216949|PMID:16227967|PMID:16267640|PMID:16344340|PMID:16533963|PMID:16534109|PMID:16628450|PMID:16651627|PMID:16669732|PMID:16710641|PMID:16752394|PMID:16805926|PMID:16897084|PMID:16923167|PMID:16930450|PMID:16941492|PMID:16952411|PMID:17108687|PMID:17186461|PMID:17254019|PMID:17320044|PMID:17366635|PMID:17431506|PMID:17493013|PMID:17502474|PMID:17553989|PMID:17576681|PMID:17615170|PMID:17854491|PMID:17931627|PMID:17962197|PMID:17968601|PMID:18350357|PMID:18525293|PMID:18580586|PMID:18587238|PMID:18637955|PMID:18667258|PMID:18797263|PMID:19005074|PMID:19021905|PMID:19111578|PMID:19196715|PMID:19276550|PMID:19276551|PMID:19457079|PMID:19555742|PMID:19659892|PMID:19667325|PMID:19849793|PMID:1985297|PMID:19915487|PMID:20047059|PMID:20083199|PMID:20145736|PMID:20157243|PMID:20164095|PMID:20194882|PMID:2025423|PMID:20301414|PMID:20332427|PMID:20484632|PMID:20628413|PMID:20634584|PMID:20729396|PMID:21094210|PMID:21357415|PMID:21373759|PMID:21685457|PMID:21725313|PMID:21726674|PMID:21822699|PMID:21919498|PMID:21952501|PMID:21959359|PMID:22118943|PMID:22188655|PMID:22232349|PMID:22306804|PMID:22312439|PMID:22343824|PMID:22426017|PMID:22460587|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22508690|PMID:22572737|PMID:22581678|PMID:22584618|PMID:22689192|PMID:22810102|PMID:22906081|PMID:23085935|PMID:23114514|PMID:23341831|PMID:23380992|PMID:23383383|PMID:23409063|PMID:23539189|PMID:23570890|PMID:23579325|PMID:23588422|PMID:23705774|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24093083|PMID:24121961|PMID:24158021|PMID:24304563|PMID:24352661|PMID:24463146|PMID:24698269|PMID:24860142|PMID:24928124|PMID:25182737|PMID:25239621|PMID:25299611|PMID:25326637|PMID:25333068|PMID:25471389|PMID:25741868|PMID:25921538|PMID:25937274|PMID:25959826|PMID:26051801|PMID:26166206|PMID:26214276|PMID:26242991|PMID:26243271|PMID:26337232|PMID:26438723|PMID:26462451|PMID:26467025|PMID:26481686|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26925509|PMID:27014058|PMID:27073747|PMID:27264813|PMID:27312774|PMID:27345973|PMID:27357204|PMID:27454811|PMID:27535542|PMID:27540966|PMID:27614114|PMID:27622770|PMID:27644130|PMID:27777022|PMID:27810638|PMID:27836335|PMID:27930341|PMID:28269784|PMID:28323683|PMID:28350801|PMID:28492532|PMID:28550247|PMID:28554858|PMID:29091718|PMID:29316780|PMID:29874583|PMID:30054184|PMID:30412504|PMID:30567237|PMID:30590039|PMID:30745123|PMID:30797548|PMID:30924900|PMID:31153663|PMID:31235249|PMID:31440394|PMID:31536626|PMID:31686034|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32556937|PMID:32894632|PMID:33203472|PMID:33440141|PMID:33918046|PMID:7550356|PMID:7581374|PMID:7585193|PMID:7596406|PMID:7623584|PMID:7942850|PMID:8538334|PMID:8634711|PMID:8634712|PMID:8733303|PMID:8733749|PMID:8755489|PMID:8773614|PMID:8837617|PMID:8910898|PMID:8931704|PMID:8986743|PMID:9007097|PMID:9007311|PMID:9051814|PMID:9052708|PMID:9126060|PMID:9172170|PMID:9189043|PMID:9292884|PMID:9384602|PMID:9436726|PMID:9443865|PMID:9450754|PMID:9507958|PMID:9521423 8733975 Psen1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:9536098|PMID:9540849|PMID:9544835|PMID:9546792|PMID:9712537|PMID:9728730|PMID:9804121|PMID:9811326|PMID:9831473|PMID:9851443|PMID:9851450|PMID:9915968 8733975 Psen1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:10075646|PMID:10090481|PMID:10327206|PMID:10366599|PMID:10401002|PMID:10430510|PMID:10439444|PMID:10441572|PMID:10447269|PMID:10448055|PMID:10468510|PMID:10502791|PMID:10525535|PMID:10533070|PMID:10548420|PMID:10549825|PMID:10594046|PMID:10631141|PMID:10643802|PMID:10720282|PMID:10754226|PMID:10764737|PMID:10775535|PMID:10783295|PMID:10811883|PMID:10854108|PMID:11013240|PMID:11027672|PMID:11043553|PMID:11070093|PMID:11079548|PMID:11094121|PMID:11094128|PMID:11102478|PMID:11124426|PMID:11126202|PMID:11198283|PMID:11389157|PMID:11395394|PMID:11402113|PMID:11432849|PMID:11504726|PMID:11524469|PMID:11568920|PMID:11684347|PMID:11701593|PMID:11710891|PMID:11764087|PMID:11796781|PMID:11836371|PMID:11895378|PMID:11920851|PMID:11959395|PMID:11978814|PMID:11992262|PMID:12048239|PMID:12111359|PMID:12119298|PMID:12192622|PMID:12370477|PMID:12392798|PMID:12433263|PMID:12484344|PMID:12493631|PMID:12493737|PMID:12549925|PMID:12552037|PMID:12615638|PMID:12660785|PMID:12752408|PMID:12805290|PMID:12810495|PMID:12817569|PMID:12885573|PMID:12891668|PMID:14557582|PMID:14623725|PMID:14743455|PMID:14769392|PMID:14966176|PMID:15003276|PMID:15004326|PMID:15094846|PMID:15115757|PMID:15119739|PMID:15122701|PMID:15205973|PMID:15272895|PMID:15337637|PMID:15534260|PMID:15622541|PMID:15718035|PMID:15772361|PMID:15776278|PMID:16033913|PMID:16116115|PMID:16199547|PMID:16216949|PMID:16227967|PMID:16267640|PMID:16344340|PMID:16533963|PMID:16534109|PMID:16628450|PMID:16651627|PMID:16669732|PMID:16710641|PMID:16752394|PMID:16897084|PMID:16923167|PMID:16930450|PMID:16941492|PMID:16948293|PMID:16952411|PMID:16959576|PMID:17108687|PMID:17186461|PMID:17188713|PMID:17197420|PMID:17254019|PMID:17288597|PMID:17320044|PMID:17366635|PMID:17431506|PMID:17493013|PMID:17502474|PMID:17545141|PMID:17553989|PMID:17576681|PMID:17615170|PMID:17854491|PMID:17931627|PMID:17962197|PMID:17968601|PMID:18024701|PMID:18045903|PMID:18350357|PMID:18479822|PMID:18525293|PMID:18580586|PMID:18587238|PMID:18637955|PMID:18667258|PMID:18760694|PMID:18797263|PMID:19005074|PMID:19021905|PMID:19111578|PMID:19196715|PMID:19276550|PMID:19276551|PMID:19430857|PMID:19457079|PMID:19555742|PMID:19659892|PMID:19667325|PMID:19776335|PMID:19849793|PMID:1985297|PMID:19912322|PMID:19915487|PMID:20047059|PMID:20049724|PMID:20083199|PMID:20145736|PMID:20157243|PMID:20164095|PMID:20194882|PMID:20205669|PMID:2025423|PMID:20301414|PMID:20332427|PMID:20460383|PMID:20481270|PMID:20484632|PMID:20628413|PMID:20634584|PMID:20729396|PMID:20847418|PMID:21094210|PMID:21335660|PMID:21357415|PMID:21373759|PMID:21422519|PMID:21559198|PMID:21559374|PMID:21685457|PMID:21725313|PMID:21726674|PMID:21822699|PMID:21919498|PMID:21952501|PMID:21959359|PMID:22115042|PMID:22118943|PMID:22188655|PMID:22221884|PMID:22232349|PMID:22242180|PMID:22306804|PMID:22312439|PMID:22343824|PMID:22426017|PMID:22460587|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22508690|PMID:22517194|PMID:22572737|PMID:22581678|PMID:22584618|PMID:22689192|PMID:22766738|PMID:22810102|PMID:22906081|PMID:22956200|PMID:23085935|PMID:23114514|PMID:23123781|PMID:23341831|PMID:23380992|PMID:23383383|PMID:23409063|PMID:23483213|PMID:23539189|PMID:23570890|PMID:23579325|PMID:23588422|PMID:23638752|PMID:23705774|PMID:23752245|PMID:23792692|PMID:23843529|PMID:23850332|PMID:23861362|PMID:23885714|PMID:23990795|PMID:24011544|PMID:24093083|PMID:24121961|PMID:24158021|PMID:24217025|PMID:24304563|PMID:24352661|PMID:24418614|PMID:24463146|PMID:24559647|PMID:24625695|PMID:24698269|PMID:24773620|PMID:24860142|PMID:24880964|PMID:24918054|PMID:24928124|PMID:25027006|PMID:25108559|PMID:25174650|PMID:25182737|PMID:25239621|PMID:25285942|PMID:25299611|PMID:25323700|PMID:25326637|PMID:25333068|PMID:25394380|PMID:25471389|PMID:25741723|PMID:25741868|PMID:25921538|PMID:25937274|PMID:25959826|PMID:26051801|PMID:26166206|PMID:26194182|PMID:26214276|PMID:26242991|PMID:26243271|PMID:26337232|PMID:26396515|PMID:26410308|PMID:26438723|PMID:26462451|PMID:26467025 8733975 Psen1 presenilin 1 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:731724 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:26481686|PMID:26549787|PMID:26756738|PMID:26826204|PMID:26888304|PMID:26923592|PMID:26925509|PMID:27014028|PMID:27014058|PMID:27073747|PMID:27100199|PMID:27100200|PMID:27206484|PMID:27264813|PMID:27312774|PMID:27345973|PMID:27357204|PMID:27454811|PMID:27535542|PMID:27540966|PMID:27614114|PMID:27622770|PMID:27644130|PMID:27730373|PMID:27777022|PMID:27793474|PMID:27810638|PMID:27816212|PMID:27836335|PMID:27926491|PMID:2793034|PMID:27930341|PMID:28008242|PMID:28082723|PMID:28269784|PMID:28323683|PMID:28350801|PMID:28492532|PMID:28532646|PMID:28550247|PMID:28554858|PMID:28749476|PMID:28753424|PMID:28767663|PMID:29091718|PMID:29142009|PMID:29316780|PMID:29404783|PMID:29494861|PMID:29525180|PMID:29571857|PMID:29661148|PMID:29692703|PMID:29874583|PMID:30021643|PMID:30045758|PMID:30054184|PMID:30090657|PMID:30138848|PMID:30200536|PMID:30279455|PMID:30412504|PMID:30528841|PMID:30567237|PMID:30590039|PMID:30598257|PMID:30630874|PMID:30716424|PMID:30745123|PMID:30797548|PMID:30814350|PMID:30822634|PMID:30924900|PMID:30954774|PMID:31109937|PMID:31153663|PMID:31235249|PMID:31381512|PMID:31440394|PMID:31536626|PMID:31686034|PMID:31847883|PMID:31914229|PMID:31996268|PMID:32032730|PMID:32087291|PMID:32103039|PMID:32105841|PMID:32395715|PMID:32556937|PMID:32579498|PMID:32590294|PMID:32594361|PMID:32894632|PMID:32917274|PMID:33188013|PMID:33188256|PMID:33203472|PMID:33274538|PMID:33440141|PMID:33571524|PMID:33855944|PMID:33918046|PMID:34102969|PMID:34220489|PMID:34319632|PMID:34366350|PMID:34389718|PMID:34776449|PMID:34901437|PMID:35260199|PMID:35365805|PMID:7550356|PMID:7581374|PMID:7585193|PMID:7596406|PMID:7623584|PMID:7623585|PMID:7651536|PMID:7824141|PMID:7942850|PMID:8538334|PMID:8634711|PMID:8634712|PMID:8733303|PMID:8733749|PMID:8755489|PMID:8773614|PMID:8837617|PMID:8905716|PMID:8910898|PMID:8931704|PMID:8962160|PMID:8986743|PMID:9007097|PMID:9007311|PMID:9051814|PMID:9052708|PMID:9126060|PMID:9172170|PMID:9189043|PMID:9196071|PMID:9225696|PMID:9292884|PMID:9384602|PMID:9436726|PMID:9437013|PMID:9443865|PMID:9450754|PMID:9452052|PMID:9502232|PMID:9507958|PMID:9521418|PMID:9521423|PMID:9536098|PMID:9540849|PMID:9544835|PMID:9546792|PMID:9680315|PMID:9712537|PMID:9728730|PMID:9804121|PMID:9811326|PMID:9831473|PMID:9833068|PMID:9851443|PMID:9851450|PMID:9915968 8733975 Psen1 presenilin 1 gene DOID:0110455 dilated cardiomyopathy 1U ISO RGD:731724 D RGD:7240710 20180130 OMIM 8733975 Psen1 presenilin 1 gene DOID:0110455 dilated cardiomyopathy 1U ISO RGD:731724 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1U PMID:10327206|PMID:10643802|PMID:11524469|PMID:12192622|PMID:12433263|PMID:12549925|PMID:14769392|PMID:15003276|PMID:16033913|PMID:16216949|PMID:16669732|PMID:16923167|PMID:16952411|PMID:17186461|PMID:17854491|PMID:18045903|PMID:18350357|PMID:18525293|PMID:18667258|PMID:19111578|PMID:19659892|PMID:20049724|PMID:20157243|PMID:20194882|PMID:21559374|PMID:21959359|PMID:22242180|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22810102|PMID:22906081|PMID:22956200|PMID:23638752|PMID:23861362|PMID:23990795|PMID:24559647|PMID:25285942|PMID:25323700|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26242991|PMID:26337232|PMID:26467025|PMID:27264813|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27644130|PMID:27930341|PMID:28350801|PMID:28492532|PMID:28554858|PMID:7596406|PMID:7623585|PMID:8538334|PMID:8634712|PMID:8733303|PMID:8773614|PMID:8905716|PMID:8962160|PMID:8986743|PMID:9384602|PMID:9521423|PMID:9804121|PMID:9851443|PMID:9851450|PMID:9915968 8733975 Psen1 presenilin 1 gene DOID:1059 intellectual disability ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8733975 Psen1 presenilin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease | ClinVar Annotator: match by term: Familial Alzheimer disease PMID:10075646|PMID:10208579|PMID:10643802|PMID:11198283|PMID:11389157|PMID:11524469|PMID:12192622|PMID:12615638|PMID:15003276|PMID:16033913|PMID:16216949|PMID:16267640|PMID:16669732|PMID:16923167|PMID:16952411|PMID:17854491|PMID:18350357|PMID:18525293|PMID:18667258|PMID:19111578|PMID:19659892|PMID:20008660|PMID:20194882|PMID:20802216|PMID:21959359|PMID:22810102|PMID:22906081|PMID:23638752|PMID:23861362|PMID:23990795|PMID:25333068|PMID:25741868|PMID:25937274|PMID:26166206|PMID:26194182|PMID:26242991|PMID:26467025|PMID:27312774|PMID:27357204|PMID:27535542|PMID:27644130|PMID:27777022|PMID:27930341|PMID:28082723|PMID:28350801|PMID:28492532|PMID:28554858|PMID:28749476|PMID:29142009|PMID:30090657|PMID:30279455|PMID:32588886|PMID:33769986|PMID:34603009|PMID:8773614|PMID:9384602|PMID:9452052|PMID:9851443|PMID:9851450|PMID:9915968 8733975 Psen1 presenilin 1 gene DOID:11088 asphyxia neonatorum ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 8733975 Psen1 presenilin 1 gene DOID:11870 Pick's disease ISO RGD:731724 D RGD:7240710 20180130 OMIM 8733975 Psen1 presenilin 1 gene DOID:11870 Pick's disease ISO RGD:731724 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dementia with lobar atrophy and neuronal cytoplasmic inclusions | ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease PMID:10327206|PMID:11389157|PMID:11524469|PMID:12433263|PMID:12549925|PMID:14769392|PMID:15122701|PMID:18045903|PMID:19111578|PMID:20049724|PMID:20157243|PMID:20301414|PMID:21559374|PMID:22242180|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22956200|PMID:23638752|PMID:24463146|PMID:24559647|PMID:25285942|PMID:25323700|PMID:25741868|PMID:26337232|PMID:26467025|PMID:27264813|PMID:27930341|PMID:28492532|PMID:32087291|PMID:7596406|PMID:7623585|PMID:8538334|PMID:8634712|PMID:8733303|PMID:8905716|PMID:8962160|PMID:8986743|PMID:9450754|PMID:9521423|PMID:9804121 8733975 Psen1 presenilin 1 gene DOID:1289 neurodegenerative disease ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23541064 8733975 Psen1 presenilin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11389157|PMID:17186461|PMID:25741868|PMID:28492532 8733975 Psen1 presenilin 1 gene DOID:1561 cognitive disorder ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26945731 8733975 Psen1 presenilin 1 gene DOID:630 genetic disease ISO RGD:731724 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22503161|PMID:28492532 8733975 Psen1 presenilin 1 gene DOID:8927 learning disability ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25213453 8733975 Psen1 presenilin 1 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:731724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:25741868|PMID:29142009|PMID:30822634|PMID:32235595 8733975 Psen1 presenilin 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735973 D RGD:9068941 20200609 RGD PMID:16079160|REF_RGD_ID:1580694 8733975 Psen1 presenilin 1 gene DOID:9002720 Splenomegaly ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27117003 8733975 Psen1 presenilin 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:731724 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Mental deterioration PMID:10327206|PMID:10441572|PMID:11102478|PMID:11836371|PMID:11959395|PMID:11978814|PMID:16033913|PMID:16651627|PMID:16941492|PMID:19021905|PMID:19849793|PMID:20083199|PMID:20634584|PMID:21685457|PMID:21726674|PMID:22188655|PMID:22475797|PMID:22503161|PMID:22572737|PMID:23539189|PMID:23579325|PMID:23705774|PMID:24158021|PMID:25741868|PMID:26438723|PMID:26467025|PMID:26481686|PMID:26756738|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:7585193|PMID:8634712|PMID:9172170|PMID:9521423 8733975 Psen1 presenilin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:731724 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:19522546|PMID:33971107 8733975 Psen1 presenilin 1 gene DOID:9003065 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia PMID:11920851|PMID:15534188|PMID:25741868 8733975 Psen1 presenilin 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:735973 D RGD:9068941 20200609 RGD PMID:9160754|REF_RGD_ID:1302520 8733975 Psen1 presenilin 1 gene DOID:9003126 Hallucinations ISO RGD:731724 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Visual hallucination PMID:25741868 8733975 Psen1 presenilin 1 gene DOID:9003829 Familial Acne Inversa 3 ISO RGD:731724 D RGD:7240710 20210721 OMIM 8733975 Psen1 presenilin 1 gene DOID:9003829 Familial Acne Inversa 3 ISO RGD:731724 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 3 PMID:10327206|PMID:11389157|PMID:11524469|PMID:12433263|PMID:12549925|PMID:14769392|PMID:18045903|PMID:19111578|PMID:20049724|PMID:20157243|PMID:20929727|PMID:21559374|PMID:22242180|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22956200|PMID:23638752|PMID:24463146|PMID:24559647|PMID:25285942|PMID:25323700|PMID:25741868|PMID:26337232|PMID:26467025|PMID:27264813|PMID:27930341|PMID:28492532|PMID:32087291|PMID:7596406|PMID:7623585|PMID:8538334|PMID:8634712|PMID:8733303|PMID:8905716|PMID:8962160|PMID:8986743|PMID:9521423|PMID:9804121 8733975 Psen1 presenilin 1 gene DOID:9005832 Amyloid Plaques ISO RGD:731724 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33096116 8733975 Psen1 presenilin 1 gene DOID:9006051 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis ISO RGD:731724 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis PMID:24121961|PMID:25741868|PMID:27930341|PMID:28492532|PMID:34776449|PMID:35365805 8733975 Psen1 presenilin 1 gene DOID:9006129 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques ISO RGD:731724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques PMID:10720282|PMID:11198283|PMID:11524469|PMID:12111359|PMID:12370477|PMID:12493737|PMID:14557582|PMID:15159497|PMID:15732120|PMID:16033913|PMID:19667325|PMID:20634584|PMID:22461631|PMID:22766738|PMID:24217025|PMID:25471389|PMID:25741868|PMID:27777022|PMID:27930341|PMID:28350801|PMID:28492532|PMID:33440141|PMID:7550356|PMID:8733749|PMID:8755489|PMID:9172170|PMID:9546792 8733975 Psen1 presenilin 1 gene DOID:9006205 Animal Disease Models ISO RGD:731724 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:16651627|PMID:27567873 8733975 Psen1 presenilin 1 gene DOID:9006478 Amyloid Neuropathies ISO RGD:731724 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 8733975 Psen1 presenilin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:731724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:9172170 8733975 Psen1 presenilin 1 gene DOID:9007402 Gliosis ISO RGD:731724 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 8733975 Psen1 presenilin 1 gene DOID:9008023 Memory Disorders ISO RGD:731724 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:25213453|PMID:27567873|PMID:28448946 8733975 Psen1 presenilin 1 gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:731724 D RGD:9068941 20210723 CTD CTD Direct Evidence: marker/mechanism PMID:20929727 8733975 Psen1 presenilin 1 gene DOID:9120 amyloidosis ISO RGD:731724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23541064 8733975 Psen1 presenilin 1 gene DOID:9255 frontotemporal dementia ISO RGD:731724 D RGD:7240710 20180130 OMIM 8733975 Psen1 presenilin 1 gene DOID:9255 frontotemporal dementia ISO RGD:731724 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:10327206|PMID:11094121|PMID:11389157|PMID:11524469|PMID:11895378|PMID:12399144|PMID:12433263|PMID:12549925|PMID:14769392|PMID:15776278|PMID:17431506|PMID:18045903|PMID:19111578|PMID:20049724|PMID:20157243|PMID:20301414|PMID:20332427|PMID:20634584|PMID:21559374|PMID:22242180|PMID:22461631|PMID:22475797|PMID:22503161|PMID:22956200|PMID:23638752|PMID:24463146|PMID:24559647|PMID:25285942|PMID:25323700|PMID:25741868|PMID:26337232|PMID:26467025|PMID:26756738|PMID:27264813|PMID:27930341|PMID:28492532|PMID:30279455|PMID:31153663|PMID:32087291|PMID:7596406|PMID:7623585|PMID:8538334|PMID:8634712|PMID:8733303|PMID:8905716|PMID:8962160|PMID:8986743|PMID:9521423|PMID:9804121 8734003 Mtss2 MTSS I-BAR domain containing 2 gene DOID:0050888 syndromic intellectual disability ISO RGD:1603934 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:36067766 8734003 Mtss2 MTSS I-BAR domain containing 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8734003 Mtss2 MTSS I-BAR domain containing 2 gene DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features ISO RGD:1603934 D RGD:7240710 20221102 OMIM 8734003 Mtss2 MTSS I-BAR domain containing 2 gene DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features ISO RGD:1603934 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with ocular anomalies and distinctive facial features | ClinVar Annotator: match by term: MTSS2-related neurodevelopmental disorder PMID:25741868|PMID:36067766 8734003 Mtss2 MTSS I-BAR domain containing 2 gene DOID:630 genetic disease ISO RGD:1603934 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734003 Mtss2 MTSS I-BAR domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1603934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 8734029 Taf6 TATA-box binding protein associated factor 6 gene DOID:0050888 syndromic intellectual disability ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868 8734029 Taf6 TATA-box binding protein associated factor 6 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25574841 8734029 Taf6 TATA-box binding protein associated factor 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8734029 Taf6 TATA-box binding protein associated factor 6 gene DOID:630 genetic disease ISO RGD:1323155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868|PMID:28492532 8734029 Taf6 TATA-box binding protein associated factor 6 gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1323155 D RGD:7240710 20190315 OMIM 8734029 Taf6 TATA-box binding protein associated factor 6 gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alazami-Yuan syndrome PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868|PMID:28492532 8734029 Taf6 TATA-box binding protein associated factor 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1323155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11295558|PMID:25558065|PMID:25574841|PMID:25741868 8734061 Ppp1r12c protein phosphatase 1 regulatory subunit 12C gene DOID:630 genetic disease ISO RGD:1343542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734111 Rps8 ribosomal protein S8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8734111 Rps8 ribosomal protein S8 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8734111 Rps8 ribosomal protein S8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8734111 Rps8 ribosomal protein S8 gene DOID:14330 Parkinson's disease ISO RGD:731589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 8734111 Rps8 ribosomal protein S8 gene DOID:630 genetic disease ISO RGD:731589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734111 Rps8 ribosomal protein S8 gene DOID:9004657 Weight Gain ISO RGD:731589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8734111 Rps8 ribosomal protein S8 gene DOID:9008939 Breast Neoplasms ISO RGD:731589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8734119 Il23a interleukin 23 subunit alpha gene DOID:0060185 Clostridium difficile colitis severity ISO RGD:1552166 D RGD:9068941 20201009 RGD PMID:26455347|REF_RGD_ID:11097134 8734119 Il23a interleukin 23 subunit alpha gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1552166 D RGD:9068941 20201009 RGD mRNA;increased expression:trigeminal ganglion (mouse) PMID:12162874|REF_RGD_ID:39457946 8734119 Il23a interleukin 23 subunit alpha gene DOID:0080642 Middle East respiratory syndrome ISO RGD:1552166 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8734119 Il23a interleukin 23 subunit alpha gene DOID:10808 gastric ulcer treatment ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:23874957|REF_RGD_ID:39458037 8734119 Il23a interleukin 23 subunit alpha gene DOID:11339 pneumocystosis ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:17403873|REF_RGD_ID:39458043 8734119 Il23a interleukin 23 subunit alpha gene DOID:11573 listeriosis ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:19923464|PMID:22966045|REF_RGD_ID:39457955|REF_RGD_ID:39457958 8734119 Il23a interleukin 23 subunit alpha gene DOID:12053 cryptococcosis severity ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:16393998|PMID:22342846|REF_RGD_ID:39457936|REF_RGD_ID:39458042 8734119 Il23a interleukin 23 subunit alpha gene DOID:12140 Chagas disease susceptibility ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:23182712|REF_RGD_ID:39457956 8734119 Il23a interleukin 23 subunit alpha gene DOID:13272 Klebsiella pneumonia severity ISO RGD:1552166 D RGD:9068941 20201009 RGD PMID:16157683|REF_RGD_ID:39457940 8734119 Il23a interleukin 23 subunit alpha gene DOID:13622 campylobacteriosis ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:27322540|PMID:27385977|REF_RGD_ID:39457954|REF_RGD_ID:39458040 8734119 Il23a interleukin 23 subunit alpha gene DOID:14262 oral candidiasis severity ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:19204111|REF_RGD_ID:39457957 8734119 Il23a interleukin 23 subunit alpha gene DOID:2123 tularemia ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:25296161|REF_RGD_ID:39458039 8734119 Il23a interleukin 23 subunit alpha gene DOID:2945 severe acute respiratory syndrome ISO RGD:1552166 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8734119 Il23a interleukin 23 subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:16002675|PMID:20624887|REF_RGD_ID:39457949|REF_RGD_ID:39458036 8734119 Il23a interleukin 23 subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1552166 D RGD:9068941 20201015 RGD mRNA:increased expression:lung (mouse) PMID:11801672|PMID:21156751|REF_RGD_ID:39457953|REF_RGD_ID:39458038 8734119 Il23a interleukin 23 subunit alpha gene DOID:3310 atopic dermatitis ISO RGD:731906 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:33274957 8734119 Il23a interleukin 23 subunit alpha gene DOID:630 genetic disease ISO RGD:731906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734119 Il23a interleukin 23 subunit alpha gene DOID:7148 rheumatoid arthritis ISO RGD:731906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8734119 Il23a interleukin 23 subunit alpha gene DOID:8893 psoriasis ISO RGD:731906 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190|PMID:21348542 8734119 Il23a interleukin 23 subunit alpha gene DOID:9000099 Experimental Colitis severity ISO RGD:1552166 D RGD:9068941 20201015 RGD mRNA:increased expression:colon (mouse) PMID:24028683|REF_RGD_ID:39458035 8734119 Il23a interleukin 23 subunit alpha gene DOID:9001011 Bovine Tuberculosis ISO RGD:1552166 D RGD:9068941 20201008 RGD PMID:16923792|REF_RGD_ID:39457937 8734119 Il23a interleukin 23 subunit alpha gene DOID:9002283 Experimental Allergic Asthma ISO RGD:1552166 D RGD:9068941 20201015 RGD PMID:19935773|PMID:26344076|REF_RGD_ID:11251537|REF_RGD_ID:5037240 8734119 Il23a interleukin 23 subunit alpha gene DOID:9004422 Chagas Cardiomyopathy ISO RGD:1552166 D RGD:9068941 20201008 RGD PMID:28356392|REF_RGD_ID:39457935 8734119 Il23a interleukin 23 subunit alpha gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1552166 D RGD:9068941 20201009 RGD PMID:15265921|REF_RGD_ID:39457943 8734119 Il23a interleukin 23 subunit alpha gene DOID:9111 cutaneous leishmaniasis ISO RGD:1552166 D RGD:9068941 20201009 RGD PMID:29078003|REF_RGD_ID:39457938 8734119 Il23a interleukin 23, alpha subunit p19 gene DOID:9001365 Amebic Liver Abscess ISO RGD:1552166 D RGD:9068941 20201015 RGD mRNA:increased expression:liver (mouse) PMID:26809113|REF_RGD_ID:39458041 8734127 Krt82 keratin 82 gene DOID:630 genetic disease ISO RGD:1350237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734140 Cfap52 cilia and flagella associated protein 52 gene DOID:630 genetic disease ISO RGD:1348671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8734140 Cfap52 cilia and flagella associated protein 52 gene DOID:758 situs inversus ISO RGD:1348671 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Situs inversus | ClinVar Annotator: match by term: Situs inversus totalis PMID:16199547|PMID:25469542|PMID:25741868|PMID:28492532|PMID:33139725 8734140 Cfap52 cilia and flagella associated protein 52 gene DOID:9008028 Visceral Heterotaxy 10, Autosomal ISO RGD:1348671 D RGD:7240710 20211110 OMIM 8734140 Cfap52 cilia and flagella associated protein 52 gene DOID:9008028 Visceral Heterotaxy 10, Autosomal ISO RGD:1348671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility PMID:25469542|PMID:25741868|PMID:33139725 8734164 Csmd2 CUB and Sushi multiple domains 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8734164 Csmd2 CUB and Sushi multiple domains 2 gene DOID:10283 prostate cancer ISO RGD:1347365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8734164 Csmd2 CUB and Sushi multiple domains 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1347365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 8734164 Csmd2 CUB and Sushi multiple domains 2 gene DOID:12849 autistic disorder ISO RGD:1347365 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism 8734164 Csmd2 CUB and Sushi multiple domains 2 gene DOID:630 genetic disease ISO RGD:1347365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734243 Znf414 zinc finger protein 414 gene DOID:0080490 mucolipidosis type IV ISO RGD:1603942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 8734243 Znf414 zinc finger protein 414 gene DOID:12849 autistic disorder ISO RGD:1603942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8734243 Znf414 zinc finger protein 414 gene DOID:630 genetic disease ISO RGD:1603942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734258 Abt1 activator of basal transcription 1 gene DOID:630 genetic disease ISO RGD:1321888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734258 Abt1 activator of basal transcription 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1321888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8734258 Abt1 activator of basal transcription 1 gene DOID:9000918 Disease Progression ISO RGD:1321888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8734265 Sytl3 synaptotagmin like 3 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1352944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8734265 Sytl3 synaptotagmin like 3 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1352944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 8734265 Sytl3 synaptotagmin like 3 gene DOID:630 genetic disease ISO RGD:1352944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734297 Siae sialic acid acetylesterase gene DOID:0110877 holoprosencephaly 11 ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8734297 Siae sialic acid acetylesterase gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8734297 Siae sialic acid acetylesterase gene DOID:417 autoimmune disease ISO RGD:1604014 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Autoimmune disease, susceptibility to, 6 | ClinVar Annotator: match by term: SIAE-related condition PMID:20555325|PMID:22257840|PMID:23011869|PMID:23308225|PMID:25741868|PMID:28492532|PMID:28900629 8734297 Siae sialic acid acetylesterase gene DOID:417 autoimmune disease susceptibility ISO RGD:1604014 D RGD:7240710 20190502 OMIM 8734297 Siae sialic acid acetylesterase gene DOID:5419 schizophrenia ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8734297 Siae sialic acid acetylesterase gene DOID:630 genetic disease ISO RGD:1604014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8734297 Siae sialic acid acetylesterase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8734297 Siae sialic acid acetylesterase gene DOID:9007661 Dwarfism ISO RGD:1604014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8734333 Btg3 BTG anti-proliferation factor 3 gene DOID:10652 Alzheimer's disease ISO RGD:733952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8734333 Btg3 BTG anti-proliferation factor 3 gene DOID:13580 cholestasis ISO RGD:733952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8734333 Btg3 BTG anti-proliferation factor 3 gene DOID:4450 renal cell carcinoma ISO RGD:733952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19221000 8734333 Btg3 BTG anti-proliferation factor 3 gene DOID:630 genetic disease ISO RGD:733952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734333 Btg3 BTG anti-proliferation factor 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8734333 Btg3 BTG anti-proliferation factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8734345 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8734345 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:0060825 Christianson syndrome ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8734345 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:12849 autistic disorder ISO RGD:1344524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8734345 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:630 genetic disease ISO RGD:1344524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734345 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8734345 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1344524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8734345 Htatsf1 HIV-1 Tat specific factor 1 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1344524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:26935837 8734376 Dcdc2c doublecortin domain containing 2C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:4144303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:25741868 8734398 Etnk2 ethanolamine kinase 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8734398 Etnk2 ethanolamine kinase 2 gene DOID:12849 autistic disorder ISO RGD:1313254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8734398 Etnk2 ethanolamine kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8734398 Etnk2 ethanolamine kinase 2 gene DOID:630 genetic disease ISO RGD:1313254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734398 Etnk2 ethanolamine kinase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313254 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8734398 Etnk2 ethanolamine kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8734411 Nrp2 neuropilin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1551257 D RGD:9068941 20220825 MouseDO 8734411 Nrp2 neuropilin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:732191 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8734411 Nrp2 neuropilin 2 gene DOID:12849 autistic disorder ISO RGD:732191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17427189 8734411 Nrp2 neuropilin 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:732191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8734411 Nrp2 neuropilin 2 gene DOID:630 genetic disease ISO RGD:732191 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8734411 Nrp2 neuropilin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8734439 Slc25a37 solute carrier family 25 member 37 gene DOID:2355 anemia ISO RGD:1605395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253756 8734439 Slc25a37 solute carrier family 25 member 37 gene DOID:630 genetic disease ISO RGD:1605395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734439 Slc25a37 solute carrier family 25 member 37 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:733276 D RGD:7240710 20180130 OMIM 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:733276 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: AMHR2-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II PMID:11549681|PMID:12893352|PMID:19457927|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28528332|PMID:31291191|PMID:32961540|PMID:33025551|PMID:7493017|PMID:8872466 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:733276 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:1967 leiomyosarcoma ISO RGD:733276 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:17988723|REF_RGD_ID:2315651 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:4441 dysgerminoma ISO RGD:733276 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17988723|REF_RGD_ID:2315651 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:733276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:630 genetic disease ISO RGD:733276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:733276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733276 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:19424576|REF_RGD_ID:2315638 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:733276 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Male pseudohermaphroditism PMID:25741868 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8734475 Amhr2 anti-Mullerian hormone receptor type 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733276 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17988723|REF_RGD_ID:2315651 8734490 Cfap57 cilia and flagella associated protein 57 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8734490 Cfap57 cilia and flagella associated protein 57 gene DOID:12336 male infertility ISO RGD:1619670 D RGD:9068941 20231005 MouseDO 8734490 Cfap57 cilia and flagella associated protein 57 gene DOID:630 genetic disease ISO RGD:1603569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734490 Cfap57 cilia and flagella associated protein 57 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:1603569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 8734490 Cfap57 cilia and flagella associated protein 57 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1603569 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 2 PMID:21574244|PMID:25741868 8734490 Cfap57 cilia and flagella associated protein 57 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603569 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:32764743 8734527 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1601944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8734527 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1601944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome 8734527 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:1059 intellectual disability ISO RGD:1601944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8734527 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:1909 melanoma ISO RGD:1601944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8734527 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8734527 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:2746 glycogen storage disease V ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8734527 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:630 genetic disease ISO RGD:1601944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734527 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1601944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8734527 Eif1ad eukaryotic translation initiation factor 1A domain containing gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1601944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8734543 Psmb4 proteasome 20S subunit beta 4 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:26524591 8734543 Psmb4 proteasome 20S subunit beta 4 gene DOID:0060916 proteosome-associated autoinflammatory syndrome 3 ISO RGD:1344491 D RGD:7240710 20190315 OMIM 8734543 Psmb4 proteasome 20S subunit beta 4 gene DOID:0080422 Dravet syndrome ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8734543 Psmb4 proteasome 20S subunit beta 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8734543 Psmb4 proteasome 20S subunit beta 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8734543 Psmb4 proteasome 20S subunit beta 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8734543 Psmb4 proteasome 20S subunit beta 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8734543 Psmb4 proteasome 20S subunit beta 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1344491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8734543 Psmb4 proteasome 20S subunit beta 4 gene DOID:5812 MHC class II deficiency ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8734543 Psmb4 proteasome 20S subunit beta 4 gene DOID:630 genetic disease ISO RGD:1344491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8734543 Psmb4 proteasome 20S subunit beta 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8734556 Med29 mediator complex subunit 29 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351639 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8734556 Med29 mediator complex subunit 29 gene DOID:630 genetic disease ISO RGD:1351639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734556 Med29 mediator complex subunit 29 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351639 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8734565 Prss12 serine protease 12 gene DOID:0081177 autosomal recessive intellectual developmental disorder 1 ISO RGD:733403 D RGD:7240710 20180130 OMIM 8734565 Prss12 serine protease 12 gene DOID:0081177 autosomal recessive intellectual developmental disorder 1 ISO RGD:733403 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 1 PMID:12459588|PMID:18414213|PMID:25167861|PMID:25741868|PMID:28492532 8734565 Prss12 serine protease 12 gene DOID:1059 intellectual disability ISO RGD:733403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213 8734565 Prss12 serine protease 12 gene DOID:2843 long QT syndrome ISO RGD:733403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8734565 Prss12 serine protease 12 gene DOID:630 genetic disease ISO RGD:733403 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25167861|PMID:25741868 8734565 Prss12 serine protease 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8734583 Xbp1 X-box binding protein 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1332312 D RGD:9068941 20220825 MouseDO 8734583 Xbp1 X-box binding protein 1 gene DOID:0050770 polycystic liver disease ISO RGD:1352787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 8734583 Xbp1 X-box binding protein 1 gene DOID:0060478 Zika fever ISO RGD:1332312 D RGD:9068941 20200702 RGD protein:increased expression:cerebellum, mesocephalon PMID:30241539|REF_RGD_ID:32733625 8734583 Xbp1 X-box binding protein 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097666 8734583 Xbp1 X-box binding protein 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:1303073 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8734583 Xbp1 X-box binding protein 1 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1352787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8734583 Xbp1 X-box binding protein 1 gene DOID:10603 glucose intolerance ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27325692 8734583 Xbp1 X-box binding protein 1 gene DOID:2377 multiple sclerosis ISO RGD:1352787 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 8734583 Xbp1 X-box binding protein 1 gene DOID:3070 high grade glioma ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21138464 8734583 Xbp1 X-box binding protein 1 gene DOID:5154 borna disease ISO RGD:1303073 D RGD:9068941 20200702 RGD mRNA,protein:altered expression:cerebellum,hippocampus PMID:16912310|REF_RGD_ID:32733622 8734583 Xbp1 X-box binding protein 1 gene DOID:630 genetic disease ISO RGD:1352787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734583 Xbp1 X-box binding protein 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 8734583 Xbp1 X-box binding protein 1 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1352787 D RGD:9068941 20200702 RGD mRNA, protein:decreased expression:liver PMID:26234401|REF_RGD_ID:32716425 8734583 Xbp1 X-box binding protein 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1352787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 8734583 Xbp1 X-box binding protein 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:1303073 D RGD:9068941 20200702 RGD PMID:31836774|REF_RGD_ID:32733624 8734583 Xbp1 X-box binding protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1352787 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 8734583 Xbp1 X-box binding protein 1 gene DOID:9006048 Major Affective Disorder 7 ISO RGD:1352787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Major affective disorder 7 8734583 Xbp1 X-box binding protein 1 gene DOID:9006048 Major Affective Disorder 7 susceptibility ISO RGD:1352787 D RGD:7240710 20190502 OMIM 8734583 Xbp1 X-box binding protein 1 gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:1303073 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8734583 Xbp1 X-box binding protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1332312 D RGD:9068941 20200609 RGD PMID:15486293|REF_RGD_ID:2326004 8734583 Xbp1 X-box binding protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27325692 8734583 Xbp1 X-box binding protein 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:1303073 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8734583 Xbp1 X-box binding protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8734583 Xbp1 X-box binding protein 1 gene DOID:9452 steatotic liver disease ISO RGD:1352787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097666 8734591 Ascl3 achaete-scute family bHLH transcription factor 3 gene DOID:630 genetic disease ISO RGD:1315779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:0080074 neural tube defect ISO RGD:11306 D RGD:9068941 20200609 RGD associated with Hyperglycemia PMID:17235524|REF_RGD_ID:2312360 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:730861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17636114|PMID:24033266|PMID:25741868|PMID:26495765|PMID:27035118|PMID:28492532|PMID:34669123 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:730861 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11810292|PMID:13480676|PMID:15397919|PMID:16199547|PMID:17636114|PMID:22145468|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:28492532|PMID:34669123|PMID:35738466|PMID:8027028|PMID:8063045|PMID:9354798 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:7240710 20180130 OMIM 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:34669123|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:34669123|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:21271664|PMID:22145468|PMID:22214819|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:30950137|PMID:34669123|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:21271664|PMID:22145468|PMID:22214819|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:30950137|PMID:34669123|PMID:34828390|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:1062 Fanconi syndrome ISO RGD:730861 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:21271664|PMID:22145468|PMID:22214819|PMID:22350464|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28116328|PMID:28492532|PMID:30950137|PMID:34669123|PMID:34828390|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:2747 glycogen storage disease ISO RGD:730861 D RGD:9068941 20200609 RGD Fanconi-Bickel syndrome,OMIM:227810;DNA:point mutation:exon:p.R365X (human) PMID:9354798|REF_RGD_ID:1624253 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:11306 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct PMID:19252908|REF_RGD_ID:2324975 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:3892 insulinoma ISO RGD:730861 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:8421107|REF_RGD_ID:2324977 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:3892 insulinoma ISO RGD:730861 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic B cell PMID:12114701|REF_RGD_ID:2324976 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:5577 gastrinoma ISO RGD:730861 D RGD:9068941 20200609 RGD PMID:12114701|REF_RGD_ID:2324976 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:5577 gastrinoma ISO RGD:730861 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:8421107|REF_RGD_ID:2324977 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:630 genetic disease ISO RGD:730861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8364915 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3705 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:9886959|REF_RGD_ID:12879480 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3705 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19433262|REF_RGD_ID:2312358 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:9007821 Glucagonoma ISO RGD:730861 D RGD:9068941 20200609 RGD PMID:12114701|REF_RGD_ID:2324976 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:9007821 Glucagonoma ISO RGD:730861 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:8421107|REF_RGD_ID:2324977 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579870 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:9351 diabetes mellitus ISO RGD:730861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:11810292|PMID:23986439|PMID:25741868|PMID:28492532|PMID:8027028|PMID:8063045 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730861 D RGD:7240710 20180130 OMIM 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11810292|PMID:13480676|PMID:15397919|PMID:16199547|PMID:17636114|PMID:22145468|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:28492532|PMID:34669123|PMID:35738466|PMID:8027028|PMID:8063045|PMID:9354798 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730861 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:17636114|REF_RGD_ID:2312359 8734597 Slc2a2 solute carrier family 2 member 2 gene DOID:9452 steatotic liver disease ISO RGD:730861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12048068 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15564794|REF_RGD_ID:2292561 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:0060224 atrial fibrillation ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:15536334|REF_RGD_ID:2292562 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:10283 prostate cancer ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:12242727|REF_RGD_ID:2292570 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:10763 hypertension ISO RGD:3443 D RGD:9068941 20200609 RGD PMID:12732587|REF_RGD_ID:729831 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:10763 hypertension ISO RGD:3443 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:21068519|REF_RGD_ID:10041072 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:10952 nephritis treatment ISO RGD:3443 D RGD:9068941 20200609 RGD PMID:25176084|REF_RGD_ID:10041073 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:127 leiomyoma ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:12517589|REF_RGD_ID:2292569 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:732757 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21401805|PMID:25199511 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:2871 endometrial carcinoma severity ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:15536334|REF_RGD_ID:2292562 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:289 endometriosis ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:17543958|REF_RGD_ID:2292555 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:2893 cervix carcinoma ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:cervix PMID:14675348|REF_RGD_ID:2292568 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:3068 glioblastoma ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12811834 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:326 ischemia ISO RGD:3443 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:kidney PMID:17620366|REF_RGD_ID:2292577 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:732757 D RGD:9068941 20220512 RGD PMID:23906871|REF_RGD_ID:152176664 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:10526262|REF_RGD_ID:2292572 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:ovary PMID:15455382|REF_RGD_ID:2292563 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:4362 cervical cancer disease_progression ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:16638855|REF_RGD_ID:2292556 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:4676 uremia ISO RGD:3443 D RGD:9068941 20200609 RGD protein:increased expression:parathyroid gland PMID:17514628|REF_RGD_ID:2292579 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:5409 lung small cell carcinoma ISO RGD:732757 D RGD:9068941 20200609 RGD DNA:CNV:: PMID:20802517|REF_RGD_ID:13825141 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:21800286|REF_RGD_ID:13825133 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:732757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:6432 pulmonary hypertension ISO RGD:732757 D RGD:9068941 20200609 RGD PMID:16244766|REF_RGD_ID:1581290 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:3443 D RGD:9068941 20200609 RGD PMID:17203219|REF_RGD_ID:2292584 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14578863 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732757 D RGD:9068941 20220512 RGD associated with lung squamous cell carcinoma; protein:increased tyrosine phosphorylation:lymph node PMID:23906871|REF_RGD_ID:152176664 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:3443 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:15930288|REF_RGD_ID:2292560 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732758 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:16547501|REF_RGD_ID:2292557 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3443 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:15378782|REF_RGD_ID:2292604 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3443 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:kidney PMID:17620366|REF_RGD_ID:2292577 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12811834|PMID:25199511 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3443 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression, increased serine and tyrosine phosphorylation:ventricle myocardium PMID:12732587|REF_RGD_ID:729831 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3443 D RGD:9068941 20200609 RGD PMID:15930288|REF_RGD_ID:2292560 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24809783 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:732758 D RGD:9068941 20200609 RGD PMID:18056629|REF_RGD_ID:2292554 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3443 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary;protein:increased phosphorylation:ventricle myocardium PMID:17913382|REF_RGD_ID:5130174 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25199511 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23804419 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732757 D RGD:9068941 20200609 RGD DNA:amplification PMID:16457699|REF_RGD_ID:2292558 8734614 Ptk2 protein tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732757 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16136050|REF_RGD_ID:2292559 8734673 Znf75a zinc finger protein 75a gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8734673 Znf75a zinc finger protein 75a gene DOID:1826 epilepsy ISO RGD:1346975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8734673 Znf75a zinc finger protein 75a gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8734673 Znf75a zinc finger protein 75a gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1346975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8734673 Znf75a zinc finger protein 75a gene DOID:630 genetic disease ISO RGD:1346975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734707 Ptges prostaglandin E synthase gene DOID:0060041 autism spectrum disorder ISO RGD:69032 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8734707 Ptges prostaglandin E synthase gene DOID:0060074 ductal carcinoma in situ ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16353170|REF_RGD_ID:2300083 8734707 Ptges prostaglandin E synthase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:69032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8734707 Ptges prostaglandin E synthase gene DOID:11111 hydronephrosis ISO RGD:69032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22430074|PMID:25015655 8734707 Ptges prostaglandin E synthase gene DOID:11624 penile benign neoplasm ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:penis, skin PMID:14871981|REF_RGD_ID:2300087 8734707 Ptges prostaglandin E synthase gene DOID:13976 peptic esophagitis ISO RGD:62076 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:16210398|REF_RGD_ID:2300085 8734707 Ptges prostaglandin E synthase gene DOID:2152 ovary epithelial cancer ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17107625|REF_RGD_ID:2300080 8734707 Ptges prostaglandin E synthase gene DOID:2615 papilloma ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:16621493|REF_RGD_ID:1642457 8734707 Ptges prostaglandin E synthase gene DOID:2671 transitional cell carcinoma ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:16621493|REF_RGD_ID:1642457 8734707 Ptges prostaglandin E synthase gene DOID:2671 transitional cell carcinoma ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:14499677|REF_RGD_ID:2300088 8734707 Ptges prostaglandin E synthase gene DOID:2870 endometrial adenocarcinoma ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:11592775|REF_RGD_ID:2300089 8734707 Ptges prostaglandin E synthase gene DOID:289 endometriosis ISO RGD:69032 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:epithelial cell PMID:17295901|REF_RGD_ID:2300079 8734707 Ptges prostaglandin E synthase gene DOID:326 ischemia ISO RGD:62076 D RGD:9068941 20200609 RGD PMID:12431630|REF_RGD_ID:2300116 8734707 Ptges prostaglandin E synthase gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20592629|REF_RGD_ID:5135302 8734707 Ptges prostaglandin E synthase gene DOID:630 genetic disease ISO RGD:69032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734707 Ptges prostaglandin E synthase gene DOID:8719 in situ carcinoma ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:penis, skin PMID:14871981|REF_RGD_ID:2300087 8734707 Ptges prostaglandin E synthase gene DOID:8719 in situ carcinoma ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:14499677|REF_RGD_ID:2300088 8734707 Ptges prostaglandin E synthase gene DOID:9000972 Fever ISO RGD:69032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25164664 8734707 Ptges prostaglandin E synthase gene DOID:9002331 Knee Osteoarthritis ISO RGD:62076 D RGD:9068941 20200609 RGD PMID:17530714|REF_RGD_ID:2300093 8734707 Ptges prostaglandin E synthase gene DOID:9002457 Experimental Arthritis ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:paw PMID:12707354|REF_RGD_ID:2300108 8734707 Ptges prostaglandin E synthase gene DOID:9004009 Reperfusion Injury ISO RGD:62076 D RGD:9068941 20200609 RGD PMID:12431630|REF_RGD_ID:2300116 8734707 Ptges prostaglandin E synthase gene DOID:9004009 Reperfusion Injury ISO RGD:62368 D RGD:9068941 20200609 RGD PMID:16864802|REF_RGD_ID:2300094 8734707 Ptges prostaglandin E synthase gene DOID:9005274 Polyuria ISO RGD:69032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19692487 8734707 Ptges prostaglandin E synthase gene DOID:9005372 Inflammation ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, paw, spinal cord PMID:15044444|REF_RGD_ID:2300106 8734707 Ptges prostaglandin E synthase gene DOID:9005372 Inflammation ISO RGD:69032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25314295 8734707 Ptges prostaglandin E synthase gene DOID:9008939 Breast Neoplasms ISO RGD:69032 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16353170|REF_RGD_ID:2300083 8734707 Ptges prostaglandin E synthase gene DOID:9206 Barrett's esophagus ISO RGD:62076 D RGD:9068941 20200609 RGD mRNA:increased expression:esophagus PMID:14684572|REF_RGD_ID:2300107 8734711 Fndc3b fibronectin type III domain containing 3B gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1343110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28314734 8734711 Fndc3b fibronectin type III domain containing 3B gene DOID:10126 keratoconus ISO RGD:1343110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291589 8734711 Fndc3b fibronectin type III domain containing 3B gene DOID:1062 Fanconi syndrome ISO RGD:1343110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8734711 Fndc3b fibronectin type III domain containing 3B gene DOID:1067 open-angle glaucoma ISO RGD:1343110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291589 8734711 Fndc3b fibronectin type III domain containing 3B gene DOID:630 genetic disease ISO RGD:1343110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734711 Fndc3b fibronectin type III domain containing 3B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343110 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 8734750 Lrrc4c leucine rich repeat containing 4C gene DOID:1059 intellectual disability ISO RGD:1605967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8734750 Lrrc4c leucine rich repeat containing 4C gene DOID:630 genetic disease ISO RGD:1605967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734773 Hypm huntingtin interacting protein M gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8734773 Hypm huntingtin interacting protein M gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 8734773 Hypm huntingtin interacting protein M gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 8734773 Hypm huntingtin interacting protein M gene DOID:12849 autistic disorder ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8734773 Hypm huntingtin interacting protein M gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8734773 Hypm huntingtin interacting protein M gene DOID:9007661 Dwarfism ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8734773 Hypm huntingtin interacting protein M gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1353521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8734773 Hypm huntingtin interacting protein M gene DOID:9562 primary ciliary dyskinesia ISO RGD:1353521 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8734776 Tmem88 transmembrane protein 88 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8734776 Tmem88 transmembrane protein 88 gene DOID:12177 common variable immunodeficiency ISO RGD:1601835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8734776 Tmem88 transmembrane protein 88 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1601835 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8734776 Tmem88 transmembrane protein 88 gene DOID:2729 dyskeratosis congenita ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8734776 Tmem88 transmembrane protein 88 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8734776 Tmem88 transmembrane protein 88 gene DOID:630 genetic disease ISO RGD:1601835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734782 Mief1 mitochondrial elongation factor 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8734782 Mief1 mitochondrial elongation factor 1 gene DOID:630 genetic disease ISO RGD:1604008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734782 Mief1 mitochondrial elongation factor 1 gene DOID:9009065 Optic Atrophy 14 ISO RGD:1604008 D RGD:7240710 20231101 OMIM 8734782 Mief1 mitochondrial elongation factor 1 gene DOID:9009065 Optic Atrophy 14 ISO RGD:1604008 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Optic atrophy 14 PMID:33632269 8734796 Nhs NHS actin remodeling regulator gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352036 D RGD:7240710 20180130 OMIM 8734796 Nhs NHS actin remodeling regulator gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352036 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome PMID:14564667|PMID:15466011|PMID:15623749|PMID:16199547|PMID:16736028|PMID:17256798|PMID:17304053|PMID:17576681|PMID:18018428|PMID:18076117|PMID:18949062|PMID:19414485|PMID:20882036|PMID:2246772|PMID:23265383|PMID:23757202|PMID:24753537|PMID:24968223|PMID:25266737|PMID:25315662|PMID:25741868|PMID:26633542|PMID:27148795|PMID:27159028|PMID:28492532|PMID:28557584|PMID:29611406|PMID:30642278|PMID:30945684|PMID:458526|PMID:9536098 8734796 Nhs NHS actin remodeling regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8734796 Nhs NHS actin remodeling regulator gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1352036 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 8734796 Nhs NHS actin remodeling regulator gene DOID:0110272 cataract 40 ISO RGD:1352036 D RGD:7240710 20180130 OMIM 8734796 Nhs NHS actin remodeling regulator gene DOID:0110272 cataract 40 ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 40 PMID:19414485|PMID:23757202|PMID:25741868|PMID:28492532 8734796 Nhs NHS actin remodeling regulator gene DOID:0111042 glycogen storage disease IXA ISO RGD:1352036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8734796 Nhs NHS actin remodeling regulator gene DOID:10283 prostate cancer ISO RGD:1352036 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:24753537|PMID:28492532 8734796 Nhs NHS actin remodeling regulator gene DOID:1059 intellectual disability ISO RGD:1352036 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8734796 Nhs NHS actin remodeling regulator gene DOID:12849 autistic disorder ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8734796 Nhs NHS actin remodeling regulator gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1352036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8734796 Nhs NHS actin remodeling regulator gene DOID:630 genetic disease ISO RGD:1352036 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14564667|PMID:19414485|PMID:23265383|PMID:23757202|PMID:24753537|PMID:25741868|PMID:28492532 8734796 Nhs NHS actin remodeling regulator gene DOID:83 cataract ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:26694549 8734796 Nhs NHS actin remodeling regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8734819 Pde4a phosphodiesterase 4A gene DOID:11077 brucellosis ISO RGD:3279 D RGD:9068941 20200609 RGD mRNA:decreased expression:spleen PMID:17397885|REF_RGD_ID:2302429 8734819 Pde4a phosphodiesterase 4A gene DOID:11832 visual epilepsy ISO RGD:3279 D RGD:9068941 20200609 RGD PMID:16190900|REF_RGD_ID:2302430 8734819 Pde4a phosphodiesterase 4A gene DOID:12849 autistic disorder ISO RGD:737080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18090323 8734819 Pde4a phosphodiesterase 4A gene DOID:630 genetic disease ISO RGD:737080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734849 Nlgn1 neuroligin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736454 D RGD:9068941 20220825 MouseDO 8734849 Nlgn1 neuroligin 1 gene DOID:12849 autistic disorder ISO RGD:736453 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 20 | ClinVar Annotator: match by term: NLGN1-related condition PMID:25741868|PMID:28972980 8734849 Nlgn1 neuroligin 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:736453 D RGD:7240710 20240214 OMIM 8734849 Nlgn1 neuroligin 1 gene DOID:1824 status epilepticus ISO RGD:621117 D RGD:9068941 20200609 RGD PMID:22539981|REF_RGD_ID:9831126 8734849 Nlgn1 neuroligin 1 gene DOID:630 genetic disease ISO RGD:736453 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8734870 Sdc2 syndecan 2 gene DOID:630 genetic disease ISO RGD:734386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734870 Sdc2 syndecan 2 gene DOID:674 cleft palate ISO RGD:734386 D RGD:9068941 20200609 RGD PMID:18716610|REF_RGD_ID:12798509 8734870 Sdc2 syndecan 2 gene DOID:9296 cleft lip ISO RGD:734386 D RGD:9068941 20200609 RGD PMID:18716610|REF_RGD_ID:12798509 8734870 Sdc2 syndecan 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734386 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:14976204|REF_RGD_ID:2311706 8734881 Pik3ip1 phosphoinositide-3-kinase interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734881 Pik3ip1 phosphoinositide-3-kinase interacting protein 1 gene DOID:9775 diastolic heart failure ISO RGD:1605305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8734899 Hrh2 histamine receptor H2 gene DOID:0060001 withdrawal disorder ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8870037 8734899 Hrh2 histamine receptor H2 gene DOID:10763 hypertension ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30310171 8734899 Hrh2 histamine receptor H2 gene DOID:224 transient cerebral ischemia ISO RGD:2831 D RGD:9068941 20200609 RGD protein:decreased expression:caudate putamen (rat) PMID:16181737|REF_RGD_ID:9685533 8734899 Hrh2 histamine receptor H2 gene DOID:2661 myoepithelioma ISO RGD:735725 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8734899 Hrh2 histamine receptor H2 gene DOID:2671 transitional cell carcinoma ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6224980 8734899 Hrh2 histamine receptor H2 gene DOID:4248 coronary stenosis ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721106 8734899 Hrh2 histamine receptor H2 gene DOID:6000 congestive heart failure susceptibility ISO RGD:10732 D RGD:9068941 20200609 RGD PMID:24655024|REF_RGD_ID:9685523 8734899 Hrh2 histamine receptor H2 gene DOID:630 genetic disease ISO RGD:735725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734899 Hrh2 histamine receptor H2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6224980 8734899 Hrh2 histamine receptor H2 gene DOID:9002170 Experimental Neoplasms ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6224980 8734899 Hrh2 histamine receptor H2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30310171 8734899 Hrh2 histamine receptor H2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22926047 8734899 Hrh2 histamine receptor H2 gene DOID:9007838 Myocardial Reperfusion Injury susceptibility ISO RGD:10732 D RGD:9068941 20200609 RGD PMID:23467745|REF_RGD_ID:9685524 8734916 Itpkc inositol-trisphosphate 3-kinase C gene DOID:13378 Kawasaki disease ISO RGD:1345351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084290 8734916 Itpkc inositol-trisphosphate 3-kinase C gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8734916 Itpkc inositol-trisphosphate 3-kinase C gene DOID:1342 congenital hypoplastic anemia ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8734916 Itpkc inositol-trisphosphate 3-kinase C gene DOID:2340 craniosynostosis ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8734916 Itpkc inositol-trisphosphate 3-kinase C gene DOID:3362 coronary aneurysm ISO RGD:1345351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084290 8734916 Itpkc inositol-trisphosphate 3-kinase C gene DOID:630 genetic disease ISO RGD:1345351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734916 Itpkc inositol-trisphosphate 3-kinase C gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8734916 Itpkc inositol-trisphosphate 3-kinase C gene DOID:9256 colorectal cancer susceptibility ISO RGD:1345351 D RGD:9068941 20220617 RGD DNA:SNP:intron: (rs2607420) (human) PMID:33470690|REF_RGD_ID:152995405 8734916 Itpkc inositol-trisphosphate 3-kinase C gene DOID:9269 maple syrup urine disease ISO RGD:1345351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8734928 Kiaa1549 KIAA1549 ortholog gene DOID:0080690 RASopathy ISO RGD:2292705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8734928 Kiaa1549 KIAA1549 ortholog gene DOID:0112143 retinitis pigmentosa 86 ISO RGD:2292705 D RGD:7240710 20191030 OMIM 8734928 Kiaa1549 KIAA1549 ortholog gene DOID:0112143 retinitis pigmentosa 86 ISO RGD:2292705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 86 PMID:25741868|PMID:28492532|PMID:30120214 8734928 Kiaa1549 KIAA1549 ortholog gene DOID:10584 retinitis pigmentosa ISO RGD:2292705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 8734928 Kiaa1549 KIAA1549 ortholog gene DOID:3069 malignant astrocytoma ISO RGD:2292705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 8734928 Kiaa1549 KIAA1549 ortholog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2292705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8734928 Kiaa1549 KIAA1549 ortholog gene DOID:630 genetic disease ISO RGD:2292705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8734951 Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:736613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8734951 Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:630 genetic disease ISO RGD:736613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734951 Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8734951 Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:9004657 Weight Gain ISO RGD:736613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8734951 Zdhhc2 zinc finger DHHC-type palmitoyltransferase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:736613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030|PMID:28108177 8734967 Cnbp CCHC-type zinc finger nucleic acid binding protein gene DOID:0050759 myotonic dystrophy type 2 ISO RGD:733498 D RGD:7240710 20190315 OMIM 8734967 Cnbp CCHC-type zinc finger nucleic acid binding protein gene DOID:0050759 myotonic dystrophy type 2 ISO RGD:733498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myotonic dystrophy type 2 PMID:25741868 8734967 Cnbp CCHC-type zinc finger nucleic acid binding protein gene DOID:0111947 immunodeficiency 21 ISO RGD:733498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8734967 Cnbp CCHC-type zinc finger nucleic acid binding protein gene DOID:450 myotonic disease ISO RGD:733498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8734967 Cnbp CCHC-type zinc finger nucleic acid binding protein gene DOID:630 genetic disease ISO RGD:733498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734967 Cnbp CCHC-type zinc finger nucleic acid binding protein gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:733498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8734967 Cnbp CCHC-type zinc finger nucleic acid binding protein gene DOID:9270 alkaptonuria ISO RGD:733498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8734984 N4bp2l1 NEDD4 binding protein 2 like 1 gene DOID:630 genetic disease ISO RGD:1604555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8734997 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23208507 8734997 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352454 D RGD:9068941 20200609 RGD PMID:8387545|REF_RGD_ID:1599922 8734997 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:0080700 caudal regression syndrome ISO RGD:727921 D RGD:9068941 20210226 RGD PMID:27727328|REF_RGD_ID:40924666 8734997 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:1059 intellectual disability ISO RGD:1352454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8734997 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:1148 polydactyly ISO RGD:727921 D RGD:9068941 20200609 RGD DNA:deletion:intron (rat) PMID:19191224|REF_RGD_ID:2312786 8734997 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:630 genetic disease ISO RGD:1352454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8734997 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8734997 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8734997 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8734997 Zbtb16 zinc finger and BTB domain containing 16 gene DOID:9006347 Skeletal Defects, Genital Hypoplasia, And Mental Retardation ISO RGD:1352454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal defects, genital hypoplasia, and mental retardation PMID:11891687|PMID:18611983 8735023 Sell selectin L gene DOID:0060180 colitis ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:18054560|REF_RGD_ID:5685703 8735023 Sell selectin L gene DOID:0080162 lupus nephritis ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:20512127|REF_RGD_ID:7175284 8735023 Sell selectin L gene DOID:0080600 COVID-19 ISO RGD:1342543 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8735023 Sell selectin L gene DOID:0081267 graft-versus-host disease ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:21635226|REF_RGD_ID:5685693 8735023 Sell selectin L gene DOID:10652 Alzheimer's disease severity ISO RGD:1342543 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21484243|REF_RGD_ID:5685677 8735023 Sell selectin L gene DOID:14115 toxic shock syndrome ISO RGD:3655 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19375498|REF_RGD_ID:5685700 8735023 Sell selectin L gene DOID:1540 parathyroid carcinoma ISO RGD:1342543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8735023 Sell selectin L gene DOID:1936 atherosclerosis ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:21760899|REF_RGD_ID:5685675 8735023 Sell selectin L gene DOID:2773 contact dermatitis ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:20182448|REF_RGD_ID:5685684 8735023 Sell selectin L gene DOID:2841 asthma ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:21437035|PMID:21515793|REF_RGD_ID:5685685|REF_RGD_ID:5685696 8735023 Sell selectin L gene DOID:289 endometriosis ISO RGD:3655 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:17845203|REF_RGD_ID:2303708 8735023 Sell selectin L gene DOID:2986 IgA glomerulonephritis ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:11828340|PMID:17452405|REF_RGD_ID:1625253|REF_RGD_ID:7175290 8735023 Sell selectin L gene DOID:341 peripheral vascular disease ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:17924279|REF_RGD_ID:2316357 8735023 Sell selectin L gene DOID:4989 pancreatitis ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:16214426|REF_RGD_ID:5685705 8735023 Sell selectin L gene DOID:5844 myocardial infarction ISO RGD:1342543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10070497 8735023 Sell selectin L gene DOID:630 genetic disease ISO RGD:1342543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735023 Sell selectin L gene DOID:7693 abdominal aortic aneurysm ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:15998669|REF_RGD_ID:5685707 8735023 Sell selectin L gene DOID:7693 abdominal aortic aneurysm ISO RGD:737030 D RGD:9068941 20200609 RGD PMID:15998669|REF_RGD_ID:5685707 8735023 Sell selectin L gene DOID:783 end stage renal disease no_association ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:22119815|REF_RGD_ID:7175303 8735023 Sell selectin L gene DOID:8577 ulcerative colitis ISO RGD:1342543 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.F206L (human) PMID:19212205|REF_RGD_ID:13464267 8735023 Sell selectin L gene DOID:8778 Crohn's disease ISO RGD:1342543 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.F206L (human) PMID:19212205|REF_RGD_ID:13464267 8735023 Sell selectin L gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:22044737|REF_RGD_ID:5685697 8735023 Sell selectin L gene DOID:9004009 Reperfusion Injury ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:19489247|REF_RGD_ID:2313598 8735023 Sell selectin L gene DOID:9004283 Transplant Rejection ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:11095659|REF_RGD_ID:7175511 8735023 Sell selectin L gene DOID:9004484 Sepsis ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:15677732|PMID:16026013|REF_RGD_ID:5685706|REF_RGD_ID:5686285 8735023 Sell selectin L gene DOID:9004968 Yin Deficiency ISO RGD:3655 D RGD:9068941 20220915 RGD protein:increased expression:serum PMID:29729385|REF_RGD_ID:153350148 8735023 Sell selectin L gene DOID:9005372 Inflammation ISO RGD:737030 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix, vagina PMID:22391529|REF_RGD_ID:6480101 8735023 Sell selectin L gene DOID:9006439 Electric Burns ISO RGD:3655 D RGD:9068941 20200609 RGD PMID:21641115|REF_RGD_ID:5685698 8735023 Sell selectin L gene DOID:9007096 Stroke susceptibility ISO RGD:1342543 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P213S (human) PMID:21465128|REF_RGD_ID:5685695 8735023 Sell selectin L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1342543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8735023 Sell selectin L gene DOID:9008884 Decompression Sickness ISO RGD:3655 D RGD:9068941 20200609 RGD protein:increased expression:brain, lung, quadriceps PMID:18279101|REF_RGD_ID:5685701 8735023 Sell selectin L gene DOID:9074 systemic lupus erythematosus ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:20512127|REF_RGD_ID:7175284 8735023 Sell selectin L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8735023 Sell selectin L gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1342543 D RGD:9068941 20200609 RGD PMID:22119815|REF_RGD_ID:7175303 8735023 Sell selectin L gene DOID:9744 type 1 diabetes mellitus ISO RGD:737030 D RGD:9068941 20220825 MouseDO OMIM:222100 8735041 Hmces 5-hydroxymethylcytosine binding, ES cell specific gene DOID:0111947 immunodeficiency 21 ISO RGD:1604329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8735041 Hmces 5-hydroxymethylcytosine binding, ES cell specific gene DOID:630 genetic disease ISO RGD:1604329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735041 Hmces 5-hydroxymethylcytosine binding, ES cell specific gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8735041 Hmces 5-hydroxymethylcytosine binding, ES cell specific gene DOID:9270 alkaptonuria ISO RGD:1604329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8735055 Capn8 calpain 8 gene DOID:10608 celiac disease ISO RGD:736537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8735055 Capn8 calpain 8 gene DOID:1540 parathyroid carcinoma ISO RGD:736537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8735055 Capn8 calpain 8 gene DOID:630 genetic disease ISO RGD:736537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735055 Capn8 calpain 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8735107 Nit2 nitrilase family member 2 gene DOID:630 genetic disease ISO RGD:1346727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735120 Zfand3 zinc finger AN1-type containing 3 gene DOID:630 genetic disease ISO RGD:1316115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735120 Zfand3 zinc finger AN1-type containing 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1316115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8735120 Zfand3 zinc finger AN1-type containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 8735131 Pgf placental growth factor gene DOID:0060180 colitis ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:20142801|REF_RGD_ID:6483587 8735131 Pgf placental growth factor gene DOID:1059 intellectual disability ISO RGD:1347328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8735131 Pgf placental growth factor gene DOID:10591 pre-eclampsia ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:21756887|REF_RGD_ID:6483577 8735131 Pgf placental growth factor gene DOID:10591 pre-eclampsia ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:20720407|REF_RGD_ID:6483779 8735131 Pgf placental growth factor gene DOID:10763 hypertension ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Pregnancy Complications, Cardiovascular;mRNA:decreased expression:placenta PMID:12808329|REF_RGD_ID:1642387 8735131 Pgf placental growth factor gene DOID:10923 sickle cell anemia ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20040765|REF_RGD_ID:6483588 8735131 Pgf placental growth factor gene DOID:11400 pyelonephritis ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20213923|REF_RGD_ID:6483586 8735131 Pgf placental growth factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:21900081|REF_RGD_ID:6483574 8735131 Pgf placental growth factor gene DOID:1577 limited scleroderma ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22461185|REF_RGD_ID:6483571 8735131 Pgf placental growth factor gene DOID:1612 breast cancer disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:22270936|REF_RGD_ID:6483604 8735131 Pgf placental growth factor gene DOID:1798 pancreatic endocrine carcinoma disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23463017|REF_RGD_ID:14349029 8735131 Pgf placental growth factor gene DOID:1798 pancreatic endocrine carcinoma treatment ISO RGD:1347328 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:26861455|REF_RGD_ID:14349030 8735131 Pgf placental growth factor gene DOID:1798 pancreatic endocrine carcinoma treatment ISO RGD:1550266 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:26861455|REF_RGD_ID:14349030 8735131 Pgf placental growth factor gene DOID:1824 status epilepticus ISO RGD:619850 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus PMID:22079325|REF_RGD_ID:6483774 8735131 Pgf placental growth factor gene DOID:1826 epilepsy ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:22160787|REF_RGD_ID:6483572 8735131 Pgf placental growth factor gene DOID:1936 atherosclerosis ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:19952000|REF_RGD_ID:6483589 8735131 Pgf placental growth factor gene DOID:2316 brain ischemia ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:16901914|REF_RGD_ID:6483783 8735131 Pgf placental growth factor gene DOID:2841 asthma ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:22268141|REF_RGD_ID:6483605 8735131 Pgf placental growth factor gene DOID:2841 asthma ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:22268141|REF_RGD_ID:6483605 8735131 Pgf placental growth factor gene DOID:3068 glioblastoma disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:20458050|REF_RGD_ID:6483585 8735131 Pgf placental growth factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:22119626|REF_RGD_ID:6483573 8735131 Pgf placental growth factor gene DOID:3328 temporal lobe epilepsy ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex PMID:22079325|REF_RGD_ID:6483774 8735131 Pgf placental growth factor gene DOID:3407 carotid artery disease severity ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:17157858|REF_RGD_ID:6483596 8735131 Pgf placental growth factor gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:1550266 D RGD:9068941 20200609 RGD associated with obesity PMID:26861455|REF_RGD_ID:14349030 8735131 Pgf placental growth factor gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14981951|REF_RGD_ID:13506645 8735131 Pgf placental growth factor gene DOID:4977 lymphedema ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Elephantiasis, Filarial;protein:increased expression:plasma PMID:20889885|REF_RGD_ID:6483608 8735131 Pgf placental growth factor gene DOID:5082 liver cirrhosis ISO RGD:1347328 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, serum PMID:21520176|REF_RGD_ID:6483607 8735131 Pgf placental growth factor gene DOID:5844 myocardial infarction ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:22114497|REF_RGD_ID:6483773 8735131 Pgf placental growth factor gene DOID:5844 myocardial infarction ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:20649603|REF_RGD_ID:6483584 8735131 Pgf placental growth factor gene DOID:5844 myocardial infarction ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:21329947|REF_RGD_ID:6483777 8735131 Pgf placental growth factor gene DOID:6000 congestive heart failure ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:19327525|REF_RGD_ID:6483590 8735131 Pgf placental growth factor gene DOID:630 genetic disease ISO RGD:1347328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735131 Pgf placental growth factor gene DOID:6432 pulmonary hypertension ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;protein:increased expression:plasma PMID:20040765|REF_RGD_ID:6483588 8735131 Pgf placental growth factor gene DOID:6432 pulmonary hypertension ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Heart Defects, Congenital PMID:20195855|REF_RGD_ID:6483610 8735131 Pgf placental growth factor gene DOID:7147 ankylosing spondylitis ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:21873332|REF_RGD_ID:6483576 8735131 Pgf placental growth factor gene DOID:7148 rheumatoid arthritis ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:19180491|REF_RGD_ID:6483591 8735131 Pgf placental growth factor gene DOID:783 end stage renal disease ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:16543713|REF_RGD_ID:1642390 8735131 Pgf placental growth factor gene DOID:874 bacterial pneumonia ISO RGD:1550266 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16702604|REF_RGD_ID:6483601 8735131 Pgf placental growth factor gene DOID:8778 Crohn's disease ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17980128|REF_RGD_ID:6483592 8735131 Pgf placental growth factor gene DOID:8947 diabetic retinopathy ISO RGD:619850 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21408222|REF_RGD_ID:6483775 8735131 Pgf placental growth factor gene DOID:9000656 Penetrating Wounds ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:17194893|REF_RGD_ID:6483614 8735131 Pgf placental growth factor gene DOID:9001547 Tibial Fractures ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:16614757|REF_RGD_ID:6483602 8735131 Pgf placental growth factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:21520176|REF_RGD_ID:6483607 8735131 Pgf placental growth factor gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:619850 D RGD:9068941 20200609 RGD PMID:17935226|REF_RGD_ID:1643338 8735131 Pgf placental growth factor gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:21988672|REF_RGD_ID:6483606 8735131 Pgf placental growth factor gene DOID:9002457 Experimental Arthritis ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:19180491|REF_RGD_ID:6483591 8735131 Pgf placental growth factor gene DOID:9002498 Wallerian Degeneration ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:21264946|REF_RGD_ID:6483582 8735131 Pgf placental growth factor gene DOID:9002669 Hypoxia ISO RGD:619850 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17240241|REF_RGD_ID:1642388 8735131 Pgf placental growth factor gene DOID:9003281 Spontaneous Abortions ISO RGD:1347328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8735131 Pgf placental growth factor gene DOID:9003507 Premature Birth ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:20822327|REF_RGD_ID:6483609 8735131 Pgf placental growth factor gene DOID:9004484 Sepsis ISO RGD:1550266 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16702604|REF_RGD_ID:6483601 8735131 Pgf placental growth factor gene DOID:9005372 Inflammation ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:19356732|REF_RGD_ID:6483611 8735131 Pgf placental growth factor gene DOID:9005372 Inflammation severity ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Arteriosclerosis;protein:increased expression:artery PMID:17157858|REF_RGD_ID:6483596 8735131 Pgf placental growth factor gene DOID:9005372 Inflammation severity ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:15911697|REF_RGD_ID:1642386 8735131 Pgf placental growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619850 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:placenta, trophoblast cell PMID:17917370|REF_RGD_ID:6483782 8735131 Pgf placental growth factor gene DOID:9005930 Endotoxemia ISO RGD:1550266 D RGD:9068941 20200609 RGD protein:increased expression:multiple PMID:16702604|REF_RGD_ID:6483601 8735131 Pgf placental growth factor gene DOID:9007096 Stroke ISO RGD:1550266 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:11939589|REF_RGD_ID:6483603 8735131 Pgf placental growth factor gene DOID:9007102 Myocardial Ischemia ISO RGD:1347328 D RGD:9068941 20200609 RGD PMID:18192038|REF_RGD_ID:6483613 8735131 Pgf placental growth factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1347328 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19276301|REF_RGD_ID:6483612 8735131 Pgf placental growth factor gene DOID:9675 pulmonary emphysema ISO RGD:1550266 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, plasma PMID:17023518|REF_RGD_ID:5135245 8735131 Pgf placental growth factor gene DOID:9743 diabetic neuropathy ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21056561|REF_RGD_ID:6483583 8735131 Pgf placental growth factor gene DOID:9970 obesity ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with Pre-eclampsia;protein:increased expression:serum PMID:16769024|REF_RGD_ID:1642384 8735131 Pgf placental growth factor gene DOID:9970 obesity ISO RGD:1347328 D RGD:9068941 20200609 RGD associated with pancreatic cancer;protein:increased expression:plasma (human) PMID:26861455|REF_RGD_ID:14349030 8735131 Pgf placental growth factor gene DOID:9970 obesity ISO RGD:1550266 D RGD:9068941 20200609 RGD PMID:16020476|REF_RGD_ID:1642385 8735155 Copa COPI coat complex subunit alpha gene DOID:0060178 familial hemiplegic migraine ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 8735155 Copa COPI coat complex subunit alpha gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 8735155 Copa COPI coat complex subunit alpha gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321477 D RGD:7240710 20180130 OMIM 8735155 Copa COPI coat complex subunit alpha gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321477 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:17576681|PMID:25741868|PMID:25894502|PMID:27048656|PMID:27577878|PMID:28492532|PMID:29137621|PMID:30804679|PMID:31905480|PMID:32040879|PMID:32778887|PMID:35753512|PMID:9536098 8735155 Copa COPI coat complex subunit alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8735155 Copa COPI coat complex subunit alpha gene DOID:3082 interstitial lung disease ISO RGD:1321477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25894502 8735155 Copa COPI coat complex subunit alpha gene DOID:417 autoimmune disease ISO RGD:1321477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25894502 8735155 Copa COPI coat complex subunit alpha gene DOID:630 genetic disease ISO RGD:1321477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8735155 Copa COPI coat complex subunit alpha gene DOID:848 arthritis ISO RGD:1321477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25894502 8735155 Copa COPI coat complex subunit alpha gene DOID:850 lung disease ISO RGD:1321477 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:25741868 8735155 Copa COPI coat complex subunit alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8735196 Gpr160 G protein-coupled receptor 160 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1345785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 8735196 Gpr160 G protein-coupled receptor 160 gene DOID:1062 Fanconi syndrome ISO RGD:1345785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8735196 Gpr160 G protein-coupled receptor 160 gene DOID:630 genetic disease ISO RGD:1345785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735237 Foxred2 FAD dependent oxidoreductase domain containing 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8735237 Foxred2 FAD dependent oxidoreductase domain containing 2 gene DOID:630 genetic disease ISO RGD:1602317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735261 Mfn1 mitofusin 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:731663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 8735261 Mfn1 mitofusin 1 gene DOID:0111546 Currarino syndrome ISO RGD:731663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8735261 Mfn1 mitofusin 1 gene DOID:10652 Alzheimer's disease ISO RGD:731663 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (human) PMID:19605646|REF_RGD_ID:7800727 8735261 Mfn1 mitofusin 1 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:621460 D RGD:9068941 20200609 RGD PMID:27830717|REF_RGD_ID:12910765 8735261 Mfn1 mitofusin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731664 D RGD:9068941 20200609 RGD with Mfn2 knockout PMID:22052916|REF_RGD_ID:11251967 8735261 Mfn1 mitofusin 1 gene DOID:13711 dental fluorosis ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:frontal cortex (rat) PMID:23007560|REF_RGD_ID:12738230 8735261 Mfn1 mitofusin 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:731663 D RGD:9068941 20230520 RGD protein:decreased expression:vastus lateralis PMID:23972212|REF_RGD_ID:329812002 8735261 Mfn1 mitofusin 1 gene DOID:1596 depressive disorder treatment ISO RGD:731664 D RGD:9068941 20200609 RGD PMID:22244747|REF_RGD_ID:13204844 8735261 Mfn1 mitofusin 1 gene DOID:1824 status epilepticus ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:27045873|REF_RGD_ID:12436727 8735261 Mfn1 mitofusin 1 gene DOID:3021 acute kidney failure ISO RGD:621460 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:26480480|REF_RGD_ID:12910862 8735261 Mfn1 mitofusin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731663 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 8735261 Mfn1 mitofusin 1 gene DOID:4483 rhinitis ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity mucosa (rat) PMID:28146064|REF_RGD_ID:13204839 8735261 Mfn1 mitofusin 1 gene DOID:630 genetic disease ISO RGD:731663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735261 Mfn1 mitofusin 1 gene DOID:6364 migraine ISO RGD:621460 D RGD:9068941 20200609 RGD protein:decreased expression:trigeminal ganglion (rat) PMID:27984195|REF_RGD_ID:12910755 8735261 Mfn1 mitofusin 1 gene DOID:6432 pulmonary hypertension ISO RGD:621460 D RGD:9068941 20200609 RGD protein:decreased expression:heart right ventricle (rat) PMID:27422986|REF_RGD_ID:12910832 8735261 Mfn1 mitofusin 1 gene DOID:6457 Cowden syndrome ISO RGD:731663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 8735261 Mfn1 mitofusin 1 gene DOID:784 chronic kidney disease treatment ISO RGD:621460 D RGD:9068941 20200609 RGD PMID:27801955|REF_RGD_ID:12738369 8735261 Mfn1 mitofusin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621460 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord, mitochondrion (rat) PMID:26981103|REF_RGD_ID:12910837 8735261 Mfn1 mitofusin 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621460 D RGD:9068941 20200609 RGD PMID:26079325|REF_RGD_ID:12437066 8735261 Mfn1 mitofusin 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:731664 D RGD:9068941 20200609 RGD PMID:28503736|REF_RGD_ID:12910714 8735261 Mfn1 mitofusin 1 gene DOID:9004610 Acute Lung Injury ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:lung (rat) PMID:25560372|REF_RGD_ID:12437080 8735261 Mfn1 mitofusin 1 gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:621460 D RGD:9068941 20200609 RGD PMID:27491814|REF_RGD_ID:12910831 8735261 Mfn1 mitofusin 1 gene DOID:9009105 HIV Encephalitis ISO RGD:731663 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human) PMID:26611103|REF_RGD_ID:12910851 8735261 Mfn1 mitofusin 1 gene DOID:9009106 Acute Heart Injury ISO RGD:621460 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart (rat) PMID:25677476|REF_RGD_ID:12437078 8735283 Kti12 KTI12 chromatin associated homolog gene DOID:630 genetic disease ISO RGD:1603926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735288 Duoxa2 dual oxidase maturation factor 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:1603235 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868|PMID:28492532|PMID:31980526|PMID:33651715|PMID:33692749 8735288 Duoxa2 dual oxidase maturation factor 2 gene DOID:0050712 AGAT deficiency ISO RGD:1603235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8735288 Duoxa2 dual oxidase maturation factor 2 gene DOID:0112184 thyroid dyshormonogenesis 5 ISO RGD:1603235 D RGD:7240710 20180130 OMIM 8735288 Duoxa2 dual oxidase maturation factor 2 gene DOID:0112184 thyroid dyshormonogenesis 5 ISO RGD:1603235 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 5 PMID:18042646|PMID:23292166|PMID:25675383|PMID:25741868|PMID:28492532|PMID:30110704|PMID:31044655|PMID:31980526|PMID:32252219|PMID:32425884|PMID:32860008|PMID:33651715|PMID:33692749 8735288 Duoxa2 dual oxidase maturation factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1603235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8735288 Duoxa2 dual oxidase maturation factor 2 gene DOID:630 genetic disease ISO RGD:1603235 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18042646|PMID:23292166|PMID:25675383|PMID:25741868|PMID:28492532|PMID:30110704|PMID:31980526|PMID:32252219|PMID:33651715|PMID:33692749 8735288 Duoxa2 dual oxidase maturation factor 2 gene DOID:9256 colorectal cancer ISO RGD:1603235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1347629 D RGD:9068941 20200609 RGD PMID:17854592|REF_RGD_ID:4891931 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1347629 D RGD:9068941 20200609 RGD PMID:16938805|REF_RGD_ID:4891932 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:2560 morphine dependence ISO RGD:1564154 D RGD:9068941 20200609 RGD PMID:23684726|REF_RGD_ID:9831198 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:2841 asthma ISO RGD:1347629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2 PMID:15073379 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:2841 asthma susceptibility ISO RGD:1347629 D RGD:7240710 20190502 OMIM 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:535 sleep disorder ISO RGD:1558020 D RGD:9068941 20220825 MouseDO 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:630 genetic disease ISO RGD:1347629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1347629 D RGD:9068941 20200609 RGD PMID:20179762|REF_RGD_ID:4891930 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:9000499 Alcoholic Intoxication ISO RGD:1564154 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19860802|REF_RGD_ID:9831199 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:9001109 Anorexia ISO RGD:1564154 D RGD:9068941 20200609 RGD PMID:19821837|REF_RGD_ID:9835045 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1564154 D RGD:9068941 20200609 RGD PMID:24884567|REF_RGD_ID:9831205 8735301 Npsr1 neuropeptide S receptor 1 gene DOID:9005632 Cocaine-Related Disorders treatment ISO RGD:1564154 D RGD:9068941 20200609 RGD PMID:22982682|REF_RGD_ID:9831202 8735314 Znrf3 zinc and ring finger 3 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1342950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8735314 Znrf3 zinc and ring finger 3 gene DOID:1793 pancreatic cancer ISO RGD:1342950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086665|PMID:26098869 8735314 Znrf3 zinc and ring finger 3 gene DOID:3948 adrenocortical carcinoma ISO RGD:1342950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 8735314 Znrf3 zinc and ring finger 3 gene DOID:630 genetic disease ISO RGD:1342950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735314 Znrf3 zinc and ring finger 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1342950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8735346 Nfxl1 nuclear transcription factor, X-box binding like 1 gene DOID:13580 cholestasis ISO RGD:1347533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8735346 Nfxl1 nuclear transcription factor, X-box binding like 1 gene DOID:630 genetic disease ISO RGD:1347533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735346 Nfxl1 nuclear transcription factor, X-box binding like 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8735375 Nasp nuclear autoantigenic sperm protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8735375 Nasp nuclear autoantigenic sperm protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8735375 Nasp nuclear autoantigenic sperm protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8735375 Nasp nuclear autoantigenic sperm protein gene DOID:2394 ovarian cancer ISO RGD:1605124 D RGD:9068941 20200609 RGD protein:increased expression:ovary (human) PMID:20164540|REF_RGD_ID:9590111 8735375 Nasp nuclear autoantigenic sperm protein gene DOID:630 genetic disease ISO RGD:1605124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735375 Nasp nuclear autoantigenic sperm protein gene DOID:9007456 Female Infertility ISO RGD:1552828 D RGD:9068941 20200609 RGD PMID:19219058|REF_RGD_ID:9590110 8735400 Pasd1 PAS domain containing repressor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8735400 Pasd1 PAS domain containing repressor 1 gene DOID:12849 autistic disorder ISO RGD:1346433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8735400 Pasd1 PAS domain containing repressor 1 gene DOID:630 genetic disease ISO RGD:1346433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735422 Klhl26 kelch like family member 26 gene DOID:630 genetic disease ISO RGD:1602473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735422 Klhl26 kelch like family member 26 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1602473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8735442 Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:0060575 3MC syndrome 1 ISO RGD:1316536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 8735442 Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:12215 oligohydramnios ISO RGD:1316536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 8735442 Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:2975 cystic kidney disease ISO RGD:1316536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:25741868 8735442 Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:630 genetic disease ISO RGD:1316536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32631624 8735442 Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:9009199 Polycystic Kidney Disease 6 with or without Polycystic Liver Disease ISO RGD:1316536 D RGD:7240710 20190315 OMIM 8735442 Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 gene DOID:9009199 Polycystic Kidney Disease 6 with or without Polycystic Liver Disease ISO RGD:1316536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 6 with or without polycystic liver disease PMID:25741868|PMID:29706351|PMID:32631624 8735455 Snx17 sorting nexin 17 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1315030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8735455 Snx17 sorting nexin 17 gene DOID:10584 retinitis pigmentosa ISO RGD:1315030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa 8735455 Snx17 sorting nexin 17 gene DOID:630 genetic disease ISO RGD:1315030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735481 Npm2 nucleophosmin/nucleoplasmin 2 gene DOID:630 genetic disease ISO RGD:737293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735492 Utrn utrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:10479 D RGD:9068941 20200609 RGD PMID:9288751|REF_RGD_ID:737706 8735492 Utrn utrophin gene DOID:2394 ovarian cancer ISO RGD:731341 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17031801|REF_RGD_ID:2300329 8735492 Utrn utrophin gene DOID:630 genetic disease ISO RGD:731341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8735589 Helt helt bHLH transcription factor gene DOID:630 genetic disease ISO RGD:2292703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735602 Rab39a RAB39A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1322661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8735602 Rab39a RAB39A, member RAS oncogene family gene DOID:12704 ataxia telangiectasia ISO RGD:1322661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8735602 Rab39a RAB39A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1322661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735602 Rab39a RAB39A, member RAS oncogene family gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8735606 Pglyrp2 peptidoglycan recognition protein 2 gene DOID:630 genetic disease ISO RGD:1346354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735629 Cdc25a cell division cycle 25A gene DOID:0050770 polycystic liver disease ISO RGD:731492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 8735629 Cdc25a cell division cycle 25A gene DOID:0050770 polycystic liver disease treatment ISO RGD:731493 D RGD:9068941 20200609 RGD PMID:22155366|REF_RGD_ID:14700990 8735629 Cdc25a cell division cycle 25A gene DOID:0080600 COVID-19 ISO RGD:731492 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8735629 Cdc25a cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:621498 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte: PMID:22155366|REF_RGD_ID:14700990 8735629 Cdc25a cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:731492 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte: PMID:22155366|REF_RGD_ID:14700990 8735629 Cdc25a cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:731493 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte: PMID:22155366|REF_RGD_ID:14700990 8735629 Cdc25a cell division cycle 25A gene DOID:0110861 autosomal recessive polycystic kidney disease treatment ISO RGD:621498 D RGD:9068941 20200609 RGD PMID:22155366|REF_RGD_ID:14700990 8735629 Cdc25a cell division cycle 25A gene DOID:10283 prostate cancer ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:18974148|REF_RGD_ID:2743964 8735629 Cdc25a cell division cycle 25A gene DOID:11054 urinary bladder cancer ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:17145867|REF_RGD_ID:2715645 8735629 Cdc25a cell division cycle 25A gene DOID:2101 vulva squamous cell carcinoma ISO RGD:731492 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:20500813|REF_RGD_ID:2729590 8735629 Cdc25a cell division cycle 25A gene DOID:3459 breast carcinoma disease_progression ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:19555767|REF_RGD_ID:2734052 8735629 Cdc25a cell division cycle 25A gene DOID:4362 cervical cancer ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:18299147|REF_RGD_ID:2296067 8735629 Cdc25a cell division cycle 25A gene DOID:630 genetic disease ISO RGD:731492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735629 Cdc25a cell division cycle 25A gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:731492 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease 8735629 Cdc25a cell division cycle 25A gene DOID:9002221 Hyperplasia ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:17283130|REF_RGD_ID:2764000 8735629 Cdc25a cell division cycle 25A gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:731492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8735629 Cdc25a cell division cycle 25A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731492 D RGD:9068941 20200609 RGD PMID:17283130|REF_RGD_ID:2764000 8735629 Cdc25a cell division cycle 25A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731493 D RGD:9068941 20200609 RGD PMID:16951165|PMID:17638870|REF_RGD_ID:2754551|REF_RGD_ID:2771824 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:0060500 drug allergy ISO RGD:1321033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14616128 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:1205 allergic disease ISO RGD:1321033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD PMID:17548626|REF_RGD_ID:4891484 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD DNA:SNP: :1265A>G (human) PMID:12761043|REF_RGD_ID:5130932 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD DNA:SNPs: :304C>A, 1272A>G (human) PMID:18712274|REF_RGD_ID:4891483 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16304252|REF_RGD_ID:5130930 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321033 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12952266|REF_RGD_ID:4891496 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma ISO RGD:1321034 D RGD:9068941 20200609 RGD PMID:17060636|REF_RGD_ID:4891485 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:2841 asthma susceptibility ISO RGD:1321033 D RGD:9068941 20200609 RGD DNA:SNPs: :179T>C, 275C>T (human) PMID:15207712|REF_RGD_ID:4891495 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:3310 atopic dermatitis ISO RGD:1321033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:4483 rhinitis ISO RGD:1321033 D RGD:9068941 20200609 RGD DNA:SNPs: :179T>C, 275C>T (human) PMID:15580493|REF_RGD_ID:4891493 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:4483 rhinitis ISO RGD:1321033 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:17982926|REF_RGD_ID:4145109 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:552 pneumonia ISO RGD:1321033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:630 genetic disease ISO RGD:1321033 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:8544 chronic fatigue syndrome ISO RGD:1321033 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:9001371 Eosinophilia ISO RGD:1321033 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:19296494|REF_RGD_ID:4891487 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:9001472 Nasal Polyps ISO RGD:1321033 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:10415058|REF_RGD_ID:4145448 8735654 Ccl24 C-C motif chemokine ligand 24 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1321033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8735671 Trhde thyrotropin releasing hormone degrading enzyme gene DOID:2843 long QT syndrome ISO RGD:730936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8735671 Trhde thyrotropin releasing hormone degrading enzyme gene DOID:630 genetic disease ISO RGD:730936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735700 Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:0060476 Perlman syndrome ISO RGD:1322372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Predisposition to Wilms tumor PMID:25099282|PMID:28492532 8735700 Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:5183 hereditary Wilms' tumor ISO RGD:1322372 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Predisposition to Wilms tumor, CTR9-related PMID:25741868|PMID:28492532 8735700 Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1322372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8735700 Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:9003133 Hypertelorism ISO RGD:1322372 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 8735700 Ctr9 CTR9 homolog, Paf1/RNA polymerase II complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CTR9-related neurodevelopmental disorder PMID:25741868 8735730 Mageb17 MAGE family member B17 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2301779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8735730 Mageb17 MAGE family member B17 gene DOID:12849 autistic disorder ISO RGD:2301779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8735730 Mageb17 MAGE family member B17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8735738 Baat bile acid-CoA:amino acid N-acyltransferase gene DOID:0014667 disease of metabolism susceptibility ISO RGD:735913 D RGD:9068941 20200609 RGD familial hypercholanemia, OMIM:607748;DNA:transition: :226A>G (human) PMID:12704386|REF_RGD_ID:734629 8735738 Baat bile acid-CoA:amino acid N-acyltransferase gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:735913 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:17182750|PMID:20301541 8735738 Baat bile acid-CoA:amino acid N-acyltransferase gene DOID:1059 intellectual disability ISO RGD:735913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8735738 Baat bile acid-CoA:amino acid N-acyltransferase gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 8735738 Baat bile acid-CoA:amino acid N-acyltransferase gene DOID:630 genetic disease ISO RGD:735913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735738 Baat bile acid-CoA:amino acid N-acyltransferase gene DOID:9004162 BILE ACID CONJUGATION DEFECT 1 ISO RGD:735913 D RGD:7240710 20210512 OMIM 8735738 Baat bile acid-CoA:amino acid N-acyltransferase gene DOID:9004162 BILE ACID CONJUGATION DEFECT 1 ISO RGD:735913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BAAT-related condition | ClinVar Annotator: match by term: Bile acid conjugation defect 1 PMID:12704386|PMID:23415802|PMID:25741868|PMID:28492532 8735738 Baat bile acid-CoA:amino acid N-acyltransferase gene DOID:9004484 Sepsis ISO RGD:2190 D RGD:9068941 20200609 RGD PMID:7575455|REF_RGD_ID:69770 8735738 Baat bile acid-CoA:amino acid N-acyltransferase gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:735913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:17495420|PMID:24033266|PMID:25741868|PMID:28492532 8735738 Baat bile acid-CoA:amino acid N-acyltransferase gene DOID:9007118 Familial Hypercholanemia ISO RGD:735913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 8735738 Baat bile acid-CoA:amino acid N-acyltransferase gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:735913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 8735755 Eif3l eukaryotic translation initiation factor 3 subunit L gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1317885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8735755 Eif3l eukaryotic translation initiation factor 3 subunit L gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1317885 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8735755 Eif3l eukaryotic translation initiation factor 3 subunit L gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1317885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8735755 Eif3l eukaryotic translation initiation factor 3 subunit L gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1317885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8735755 Eif3l eukaryotic translation initiation factor 3 subunit L gene DOID:630 genetic disease ISO RGD:1317885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735776 Gtf2h3 general transcription factor IIH subunit 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1313552 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8735776 Gtf2h3 general transcription factor IIH subunit 3 gene DOID:630 genetic disease ISO RGD:1313552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735794 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8735794 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8735794 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316654 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8735794 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0080942 anauxetic dysplasia ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8735794 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8735794 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8735794 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:423 myopathy ISO RGD:1316654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal myopathy PMID:23806086|PMID:24088041|PMID:26257172 8735794 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:630 genetic disease ISO RGD:1316654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735794 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316654 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8735794 Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 gene DOID:9870 galactosemia ISO RGD:1316654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8735813 Fcrlb Fc receptor like B gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1605583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 8735813 Fcrlb Fc receptor like B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1605583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8735813 Fcrlb Fc receptor like B gene DOID:1540 parathyroid carcinoma ISO RGD:1605583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8735813 Fcrlb Fc receptor like B gene DOID:630 genetic disease ISO RGD:1605583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735813 Fcrlb Fc receptor like B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8735828 Dctpp1 dCTP pyrophosphatase 1 gene DOID:630 genetic disease ISO RGD:1601967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735834 Spacdr sperm acrosome developmental regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8735846 Tmem218 transmembrane protein 218 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1332286 D RGD:9068941 20220825 MouseDO OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 8735846 Tmem218 transmembrane protein 218 gene DOID:0050777 Joubert syndrome ISO RGD:2293899 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:33791682 8735846 Tmem218 transmembrane protein 218 gene DOID:0070118 Meckel syndrome 4 ISO RGD:2293899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:25741868|PMID:33791682 8735846 Tmem218 transmembrane protein 218 gene DOID:0110877 holoprosencephaly 11 ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8735846 Tmem218 transmembrane protein 218 gene DOID:0110980 Joubert syndrome 1 ISO RGD:2293899 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868|PMID:33791682 8735846 Tmem218 transmembrane protein 218 gene DOID:0111723 Jacobsen Syndrome ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8735846 Tmem218 transmembrane protein 218 gene DOID:5419 schizophrenia ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8735846 Tmem218 transmembrane protein 218 gene DOID:630 genetic disease ISO RGD:2293899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33791682 8735846 Tmem218 transmembrane protein 218 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8735846 Tmem218 transmembrane protein 218 gene DOID:9004188 Joubert Syndrome 39 ISO RGD:2293899 D RGD:7240710 20211027 OMIM 8735846 Tmem218 transmembrane protein 218 gene DOID:9004188 Joubert Syndrome 39 ISO RGD:2293899 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 39 PMID:25741868|PMID:33791682|PMID:35137054 8735846 Tmem218 transmembrane protein 218 gene DOID:9007661 Dwarfism ISO RGD:2293899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8735864 Mro maestro gene DOID:1059 intellectual disability ISO RGD:1342837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8735864 Mro maestro gene DOID:630 genetic disease ISO RGD:1342837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735864 Mro maestro gene DOID:684 hepatocellular carcinoma ISO RGD:1342837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8735864 Mro maestro gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8735883 Cldn20 claudin 20 gene DOID:630 genetic disease ISO RGD:1343820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735886 Il1f10 interleukin 1 family member 10 gene DOID:0080474 pustular psoriasis 14 ISO RGD:1313781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized pustular psoriasis PMID:19494218|PMID:21792839|PMID:21848462|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 8735886 Il1f10 interleukin 1 family member 10 gene DOID:289 endometriosis ISO RGD:1313781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 8735886 Il1f10 interleukin 1 family member 10 gene DOID:630 genetic disease ISO RGD:1313781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735886 Il1f10 interleukin 1 family member 10 gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1313781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis PMID:19494218|PMID:21792839|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 8735895 Sav1 salvador family WW domain containing protein 1 gene DOID:5353 colonic disease ISO RGD:1316339 D RGD:9068941 20220825 MouseDO 8735895 Sav1 salvador family WW domain containing protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8735895 Sav1 salvador family WW domain containing protein 1 gene DOID:630 genetic disease ISO RGD:1316338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735895 Sav1 salvador family WW domain containing protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1316339 D RGD:9068941 20220825 MouseDO OMIM:114550 8735913 Gtpbp1 GTP binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8735913 Gtpbp1 GTP binding protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1315559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8735913 Gtpbp1 GTP binding protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1315559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8735913 Gtpbp1 GTP binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:17576681|PMID:28492532|PMID:9536098 8735913 Gtpbp1 GTP binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:28492532|PMID:9536098 8735913 Gtpbp1 GTP binding protein 1 gene DOID:630 genetic disease ISO RGD:1315559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8735933 Tmem167b transmembrane protein 167B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8735933 Tmem167b transmembrane protein 167B gene DOID:12849 autistic disorder ISO RGD:1604335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8735933 Tmem167b transmembrane protein 167B gene DOID:630 genetic disease ISO RGD:1604335 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735940 Tex35 testis expressed 35 gene DOID:1540 parathyroid carcinoma ISO RGD:1348676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8735940 Tex35 testis expressed 35 gene DOID:630 genetic disease ISO RGD:1348676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735940 Tex35 testis expressed 35 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1348676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8735940 Tex35 testis expressed 35 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8735963 Gnaq G protein subunit alpha q gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 8735963 Gnaq G protein subunit alpha q gene DOID:0111529 familial multiple nevi flammei ISO RGD:731425 D RGD:7240710 20180214 OMIM 8735963 Gnaq G protein subunit alpha q gene DOID:0111529 familial multiple nevi flammei ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial multiple nevi flammei | ClinVar Annotator: match by term: Port-wine stain familial multiple PMID:23656586|PMID:25188413|PMID:25741868 8735963 Gnaq G protein subunit alpha q gene DOID:0111563 Sturge-Weber syndrome ISO RGD:731425 D RGD:7240710 20180130 OMIM 8735963 Gnaq G protein subunit alpha q gene DOID:0111563 Sturge-Weber syndrome ISO RGD:731425 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Sturge-Weber syndrome PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:23656586|PMID:25188413|PMID:2549426|PMID:25741868 8735963 Gnaq G protein subunit alpha q gene DOID:1247 blood coagulation disease ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9296496 8735963 Gnaq G protein subunit alpha q gene DOID:12930 dilated cardiomyopathy ISO RGD:1550022 D RGD:9068941 20200609 RGD PMID:9811897|REF_RGD_ID:1598475 8735963 Gnaq G protein subunit alpha q gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16267159 8735963 Gnaq G protein subunit alpha q gene DOID:1682 congenital heart disease ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9687499 8735963 Gnaq G protein subunit alpha q gene DOID:1909 melanoma ISO RGD:731425 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:23656586|PMID:25157968|PMID:25188413|PMID:2549426|PMID:25741868 8735963 Gnaq G protein subunit alpha q gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome PMID:23656586|PMID:25188413|PMID:25741868 8735963 Gnaq G protein subunit alpha q gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731425 D RGD:9068941 20210423 RGD PMID:24518087|REF_RGD_ID:126781753 8735963 Gnaq G protein subunit alpha q gene DOID:6000 congestive heart failure disease_progression ISO RGD:731425 D RGD:9068941 20210423 RGD DNA:polymorphism:promoter:[-694C>T;-695G>T] (human) PMID:17720980|REF_RGD_ID:126781754 8735963 Gnaq G protein subunit alpha q gene DOID:6000 congestive heart failure no_association ISO RGD:731425 D RGD:9068941 20210423 RGD DNA:polymorphisms:promoter:multiple PMID:17720980|REF_RGD_ID:126781754 8735963 Gnaq G protein subunit alpha q gene DOID:6039 uveal melanoma ISO RGD:731425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:25157968|PMID:2549426 8735963 Gnaq G protein subunit alpha q gene DOID:630 genetic disease ISO RGD:731425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8735963 Gnaq G protein subunit alpha q gene DOID:9001542 Albuminuria ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16267159 8735963 Gnaq G protein subunit alpha q gene DOID:9001616 Port-Wine Stain ISO RGD:731425 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: PORT-WINE STAIN PMID:23656586|PMID:25188413|PMID:25741868 8735963 Gnaq G protein subunit alpha q gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731425 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:2549426|PMID:25741868 8735963 Gnaq G protein subunit alpha q gene DOID:9003936 Cardiomegaly ISO RGD:1550022 D RGD:9068941 20200609 RGD PMID:9811897|REF_RGD_ID:1598475 8735963 Gnaq G protein subunit alpha q gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1550022 D RGD:9068941 20200609 RGD PMID:9687499|REF_RGD_ID:737757 8735963 Gnaq G protein subunit alpha q gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9687499 8735993 Sox6 SRY-box transcription factor 6 gene DOID:0050700 cardiomyopathy ISO RGD:1319099 D RGD:9068941 20230323 RGD PMID:26029872|REF_RGD_ID:158014899 8735993 Sox6 SRY-box transcription factor 6 gene DOID:0080000 muscular disease ISO RGD:1319099 D RGD:9068941 20200609 RGD PMID:10760285|REF_RGD_ID:1580857 8735993 Sox6 SRY-box transcription factor 6 gene DOID:1059 intellectual disability ISO RGD:1319098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8735993 Sox6 SRY-box transcription factor 6 gene DOID:3070 high grade glioma ISO RGD:1319098 D RGD:9068941 20200609 RGD PMID:15696967|REF_RGD_ID:1580007 8735993 Sox6 SRY-box transcription factor 6 gene DOID:630 genetic disease ISO RGD:1319098 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8735993 Sox6 SRY-box transcription factor 6 gene DOID:9003163 Heart Block ISO RGD:1319099 D RGD:9068941 20200609 RGD PMID:10760285|REF_RGD_ID:1580857 8735993 Sox6 SRY-box transcription factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319098 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32442410 8735993 Sox6 SRY-box transcription factor 6 gene DOID:9005634 Tolchin-Le Caignec Syndrome ISO RGD:1319098 D RGD:7240710 20200812 OMIM 8735993 Sox6 SRY-box transcription factor 6 gene DOID:9005634 Tolchin-Le Caignec Syndrome ISO RGD:1319098 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tolchin-Le Caignec syndrome PMID:25741868|PMID:32442410 8735993 Sox6 SRY-box transcription factor 6 gene DOID:9007692 Insulin Resistance ISO RGD:1319099 D RGD:9068941 20200609 RGD PMID:16148004|REF_RGD_ID:1581307 8735993 Sox6 SRY-box transcription factor 6 gene DOID:9008582 Developmental Disease ISO RGD:1319098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8736075 Znf529 zinc finger protein 529 gene DOID:630 genetic disease ISO RGD:1353081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736082 Rcl1 RNA terminal phosphate cyclase like 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1313278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8736082 Rcl1 RNA terminal phosphate cyclase like 1 gene DOID:2468 psychotic disorder ISO RGD:1313278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psychotic disorder 8736082 Rcl1 RNA terminal phosphate cyclase like 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1313278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8736082 Rcl1 RNA terminal phosphate cyclase like 1 gene DOID:630 genetic disease ISO RGD:1313278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736082 Rcl1 RNA terminal phosphate cyclase like 1 gene DOID:9006205 Animal Disease Models ISO RGD:1313278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8736095 Ripor1 RHO family interacting cell polarization regulator 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8736095 Ripor1 RHO family interacting cell polarization regulator 1 gene DOID:630 genetic disease ISO RGD:1606508 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736136 Hfm1 helicase for meiosis 1 gene DOID:0070176 spermatogenic failure 4 ISO RGD:1606438 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 8736136 Hfm1 helicase for meiosis 1 gene DOID:0080866 primary ovarian insufficiency 9 ISO RGD:1606438 D RGD:7240710 20180130 OMIM 8736136 Hfm1 helicase for meiosis 1 gene DOID:0080866 primary ovarian insufficiency 9 ISO RGD:1606438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 9 PMID:24597873|PMID:25741868 8736136 Hfm1 helicase for meiosis 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1606438 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8736136 Hfm1 helicase for meiosis 1 gene DOID:14227 azoospermia ISO RGD:1606438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8736136 Hfm1 helicase for meiosis 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8736136 Hfm1 helicase for meiosis 1 gene DOID:630 genetic disease ISO RGD:1606438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736201 Upk3a uroplakin 3A gene DOID:0080206 CAKUT1 ISO RGD:1321651 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to PMID:15888565|PMID:16731295|PMID:25741868 8736201 Upk3a uroplakin 3A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1321651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8736201 Upk3a uroplakin 3A gene DOID:1059 intellectual disability ISO RGD:1321651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8736201 Upk3a uroplakin 3A gene DOID:14766 renal agenesis ISO RGD:1321651 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: RENAL APLASIA | ClinVar Annotator: match by term: Urogenital adysplasia, hereditary PMID:15888565|PMID:25741868 8736201 Upk3a uroplakin 3A gene DOID:630 genetic disease ISO RGD:1321651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736201 Upk3a uroplakin 3A gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:1321651 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:15888565|PMID:25741868|PMID:27657687|PMID:28492532 8736201 Upk3a uroplakin 3A gene DOID:9620 vesicoureteral reflux ISO RGD:1321652 D RGD:9068941 20220825 MouseDO OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:737017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:1184 nephrotic syndrome ISO RGD:2016 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:19147991|REF_RGD_ID:2307223 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:12704 ataxia telangiectasia ISO RGD:737017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:737017 D RGD:7240710 20180130 OMIM 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:737017 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:11161836|PMID:11161837|PMID:11914035|PMID:12754704|PMID:1346617|PMID:1373235|PMID:14518824|PMID:15128923|PMID:15877211|PMID:16199547|PMID:1627655|PMID:1715688|PMID:17236799|PMID:17576681|PMID:18511318|PMID:19763152|PMID:20046049|PMID:20156697|PMID:20157782|PMID:20307669|PMID:20488739|PMID:21669895|PMID:22406018|PMID:23430882|PMID:23958592|PMID:24516753|PMID:24517888|PMID:25559898|PMID:25640679|PMID:25741868|PMID:27264805|PMID:27748876|PMID:27928777|PMID:28220263|PMID:28255778|PMID:28361105|PMID:28393214|PMID:28492532|PMID:28689740|PMID:28726122|PMID:28875337|PMID:29402417|PMID:29624230|PMID:30393371|PMID:30835345|PMID:31156707|PMID:31268215|PMID:32778825|PMID:33708533|PMID:34001203|PMID:34298581|PMID:4690360|PMID:7173255|PMID:7728148|PMID:7728155|PMID:7749408|PMID:7907600|PMID:8103405|PMID:9090533|PMID:9536098|PMID:9700610|PMID:9744475 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:2349 arteriosclerosis ISO RGD:737017 D RGD:9068941 20200609 RGD mRNA:increased expression:atherosclerotic lesions (human) PMID:15961705|REF_RGD_ID:1581042 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:737017 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:7617578|REF_RGD_ID:2326222 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:737017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:783 end stage renal disease ISO RGD:2016 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:19878707|REF_RGD_ID:2326081 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:783 end stage renal disease ISO RGD:737017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8736224 Acat1 acetyl-CoA acetyltransferase 1 gene DOID:9452 steatotic liver disease treatment ISO RGD:10060 D RGD:9068941 20231019 RGD PMID:27813192|REF_RGD_ID:401842386 8736240 Ccdc70 coiled-coil domain containing 70 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1603195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8736240 Ccdc70 coiled-coil domain containing 70 gene DOID:1059 intellectual disability ISO RGD:1603195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8736240 Ccdc70 coiled-coil domain containing 70 gene DOID:630 genetic disease ISO RGD:1603195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736240 Ccdc70 coiled-coil domain containing 70 gene DOID:893 Wilson disease ISO RGD:1603195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 8736249 Neb nebulin gene DOID:0050557 congenital muscular dystrophy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868|PMID:28492532 8736249 Neb nebulin gene DOID:0070336 arthrogryposis multiplex congenita-6 ISO RGD:1322432 D RGD:7240710 20210616 OMIM 8736249 Neb nebulin gene DOID:0070336 arthrogryposis multiplex congenita-6 ISO RGD:1322432 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 PMID:12207938|PMID:15221447|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17576681|PMID:18330676|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19805734|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:23572184|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24056153|PMID:24725366|PMID:25079567|PMID:25110572|PMID:25205138|PMID:25205148|PMID:25473036|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25741874|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27854218|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28492532|PMID:29070751|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29669168|PMID:29754767|PMID:30057997|PMID:30467404|PMID:30859559|PMID:31230720|PMID:31696431|PMID:32222963|PMID:32337335|PMID:32403337|PMID:32721234|PMID:33333461|PMID:33376055|PMID:33442022|PMID:33667896|PMID:33742414|PMID:34782754|PMID:35586607|PMID:9536098 8736249 Neb nebulin gene DOID:0110928 nemaline myopathy 2 ISO RGD:1322432 D RGD:7240710 20180130 OMIM 8736249 Neb nebulin gene DOID:0110928 nemaline myopathy 2 ISO RGD:1322432 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15221447|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:18414213|PMID:19232495|PMID:19339519|PMID:19346529|PMID:19763152|PMID:19805734|PMID:19944167|PMID:20307669|PMID:21148390|PMID:21350120|PMID:21520333|PMID:21724397|PMID:21798101|PMID:22183965|PMID:22367672|PMID:22406018|PMID:22941678|PMID:23010307|PMID:23441136|PMID:23443021|PMID:23555315|PMID:23572184|PMID:23715096|PMID:23726790|PMID:23826317|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24753607|PMID:24972929|PMID:25079567|PMID:25110572|PMID:25203624|PMID:25205138|PMID:25205148|PMID:25214167|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25473036|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25640679|PMID:25740301|PMID:25741868|PMID:25741869|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26573135|PMID:26578207|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27105866|PMID:27168972|PMID:27357428|PMID:27739254|PMID:27854218|PMID:27884173|PMID:27902461|PMID:27933661|PMID:28131200|PMID:28132693|PMID:28336317|PMID:28357410|PMID:28391287|PMID:28403181|PMID:28424332|PMID:28492532|PMID:28600779|PMID:28977494|PMID:29070751|PMID:29172004|PMID:29246625|PMID:29274205|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29792937|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30265400|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30679003|PMID:30859559|PMID:30950222|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31256874|PMID:31696431|PMID:31965297|PMID:32062132|PMID:32222963|PMID:32337335|PMID:32403337|PMID:32721234|PMID:33060286|PMID:33250842|PMID:33333461|PMID:33442022|PMID:33667896|PMID:33742171|PMID:33742414|PMID:34302381|PMID:34440373|PMID:34782754|PMID:35586607|PMID:36233295|PMID:7739042|PMID:9536098 8736249 Neb nebulin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8736249 Neb nebulin gene DOID:3191 nemaline myopathy ISO RGD:1322432 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Dominant | ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:19232495|PMID:19805734|PMID:19944167|PMID:21798101|PMID:22281206|PMID:22367672|PMID:23010307|PMID:23443021|PMID:23572184|PMID:23715096|PMID:24056153|PMID:25079567|PMID:25110572|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:27168972|PMID:27933661|PMID:28132693|PMID:28424332|PMID:28492532|PMID:28977494|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29644095|PMID:30057997|PMID:30467404|PMID:30859559|PMID:32222963|PMID:32721234|PMID:33742171|PMID:9536098 8736249 Neb nebulin gene DOID:3191 nemaline myopathy ISO RGD:1322432 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18330676|PMID:19232495|PMID:19805734|PMID:19944167|PMID:21798101|PMID:22281206|PMID:22367672|PMID:23010307|PMID:23443021|PMID:23572184|PMID:23715096|PMID:24056153|PMID:24725366|PMID:25079567|PMID:25110572|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26036949|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:27168972|PMID:27933661|PMID:28132693|PMID:28424332|PMID:28492532|PMID:28977494|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29644095|PMID:29669168|PMID:30057997|PMID:30369353|PMID:30467404|PMID:30517146|PMID:30859559|PMID:31069529|PMID:31230720|PMID:32222963|PMID:32721234|PMID:33442022|PMID:33742171|PMID:9536098 8736249 Neb nebulin gene DOID:574 peripheral nervous system disease ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 8736249 Neb nebulin gene DOID:630 genetic disease ISO RGD:1322432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19339519|PMID:23726790|PMID:24033266|PMID:24725366|PMID:25205138|PMID:25205148|PMID:25356970|PMID:25741868|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26841830|PMID:28492532|PMID:32222963|PMID:32721234|PMID:9536098 8736249 Neb nebulin gene DOID:870 neuropathy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 8736249 Neb nebulin gene DOID:9000123 Deglutition Disorders ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:24056153|PMID:25205138|PMID:25741868|PMID:28492532 8736249 Neb nebulin gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:25741868|PMID:28492532 8736249 Neb nebulin gene DOID:9008386 Hydrops Fetalis ISO RGD:1322432 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:18330676|PMID:25205138|PMID:25741868|PMID:26036949|PMID:26841830|PMID:28492532 8736249 Neb nebulin gene DOID:9884 muscular dystrophy ISO RGD:1322432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:18414213|PMID:25205138|PMID:25741868|PMID:28492532 8736408 Coq10a coenzyme Q10A gene DOID:630 genetic disease ISO RGD:1602309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736408 Coq10a coenzyme Q10A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8736420 Thsd7b thrombospondin type 1 domain containing 7B gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1606777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 8736420 Thsd7b thrombospondin type 1 domain containing 7B gene DOID:630 genetic disease ISO RGD:1606777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0080690 RASopathy ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:1686 glaucoma ISO RGD:1312950 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:5419 schizophrenia ISO RGD:1312950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:630 genetic disease ISO RGD:1312950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:9004657 Weight Gain ISO RGD:1312950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8736453 Arhgef12 Rho guanine nucleotide exchange factor 12 gene DOID:9007661 Dwarfism ISO RGD:1312950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8736502 Adap1 ArfGAP with dual PH domains 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:733651 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:37156999 8736502 Adap1 ArfGAP with dual PH domains 1 gene DOID:630 genetic disease ISO RGD:733651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736520 Rpl22 ribosomal protein L22 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733560 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8736520 Rpl22 ribosomal protein L22 gene DOID:630 genetic disease ISO RGD:733560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736520 Rpl22 ribosomal protein L22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8736542 Mgat5b alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene DOID:11612 polycystic ovary syndrome ISO RGD:1313067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8736542 Mgat5b alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B gene DOID:630 genetic disease ISO RGD:1313067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736566 Cdr2l cerebellar degeneration related protein 2 like gene DOID:630 genetic disease ISO RGD:1602123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736581 Psmb11 proteasome subunit beta 11 gene DOID:0060439 lysinuric protein intolerance ISO RGD:2291820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8736581 Psmb11 proteasome subunit beta 11 gene DOID:630 genetic disease ISO RGD:2291820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736581 Psmb11 proteasome subunit beta 11 gene DOID:9000265 Specific Granule Deficiency ISO RGD:2291820 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8736581 Psmb11 proteasome subunit beta 11 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:2291820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8736586 Crebzf CREB/ATF bZIP transcription factor gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1603614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 8736586 Crebzf CREB/ATF bZIP transcription factor gene DOID:1059 intellectual disability ISO RGD:1603614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8736586 Crebzf CREB/ATF bZIP transcription factor gene DOID:630 genetic disease ISO RGD:1603614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736592 Arf5 ADP ribosylation factor 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8736592 Arf5 ADP ribosylation factor 5 gene DOID:630 genetic disease ISO RGD:732462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736602 Bola1 bolA family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8736602 Bola1 bolA family member 1 gene DOID:630 genetic disease ISO RGD:1606296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736602 Bola1 bolA family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8736607 Cdc14a cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISO RGD:1312211 D RGD:7240710 20190315 OMIM 8736607 Cdc14a cell division cycle 14A gene DOID:0110491 autosomal recessive nonsyndromic deafness 32 ISO RGD:1312211 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32 PMID:12634867|PMID:24033266|PMID:25741868|PMID:27259055|PMID:28492532|PMID:29293958|PMID:31850270|PMID:31906439|PMID:32747562|PMID:34426522 8736607 Cdc14a cell division cycle 14A gene DOID:10003 sensorineural hearing loss ISO RGD:1312211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8736607 Cdc14a cell division cycle 14A gene DOID:12336 male infertility ISO RGD:1312211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29293958 8736607 Cdc14a cell division cycle 14A gene DOID:14228 oligospermia ISO RGD:1312211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29293958 8736607 Cdc14a cell division cycle 14A gene DOID:630 genetic disease ISO RGD:1312211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8736607 Cdc14a cell division cycle 14A gene DOID:9008681 Deafness ISO RGD:1312211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29293958 8736607 Cdc14a cell division cycle 14A gene DOID:9269 maple syrup urine disease ISO RGD:1312211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8736631 Ino80e INO80 complex subunit E gene DOID:0060019 coronin-1A deficiency ISO RGD:1605827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8736631 Ino80e INO80 complex subunit E gene DOID:0060041 autism spectrum disorder ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8736631 Ino80e INO80 complex subunit E gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605827 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8736631 Ino80e INO80 complex subunit E gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1605827 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8736631 Ino80e INO80 complex subunit E gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1605827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8736631 Ino80e INO80 complex subunit E gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605827 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8736631 Ino80e INO80 complex subunit E gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605827 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8736631 Ino80e INO80 complex subunit E gene DOID:12849 autistic disorder ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8736631 Ino80e INO80 complex subunit E gene DOID:5419 schizophrenia ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8736631 Ino80e INO80 complex subunit E gene DOID:630 genetic disease ISO RGD:1605827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736631 Ino80e INO80 complex subunit E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8736631 Ino80e INO80 complex subunit E gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1605827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8736669 Ptgds prostaglandin D2 synthase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8736669 Ptgds prostaglandin D2 synthase gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:737496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8736669 Ptgds prostaglandin D2 synthase gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:737496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8736669 Ptgds prostaglandin D2 synthase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8736669 Ptgds prostaglandin D2 synthase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:737496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8736669 Ptgds prostaglandin D2 synthase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8736669 Ptgds prostaglandin D2 synthase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8736669 Ptgds prostaglandin D2 synthase gene DOID:0081097 Rafiq syndrome ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8736669 Ptgds prostaglandin D2 synthase gene DOID:0110980 Joubert syndrome 1 ISO RGD:737496 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8736669 Ptgds prostaglandin D2 synthase gene DOID:10003 sensorineural hearing loss ISO RGD:3433 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 8736669 Ptgds prostaglandin D2 synthase gene DOID:10763 hypertension ISO RGD:737496 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:11882588|REF_RGD_ID:1642584 8736669 Ptgds prostaglandin D2 synthase gene DOID:11664 nephrosclerosis ISO RGD:737496 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:serum, urine PMID:11882588|REF_RGD_ID:1642584 8736669 Ptgds prostaglandin D2 synthase gene DOID:1826 epilepsy ISO RGD:737496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8736669 Ptgds prostaglandin D2 synthase gene DOID:2349 arteriosclerosis susceptibility ISO RGD:11182 D RGD:9068941 20200609 RGD PMID:15970590|REF_RGD_ID:1642581 8736669 Ptgds prostaglandin D2 synthase gene DOID:3407 carotid artery disease susceptibility ISO RGD:737496 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism:3'utr:4111A>C PMID:15325247|REF_RGD_ID:1642582 8736669 Ptgds prostaglandin D2 synthase gene DOID:3652 Leigh disease ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8736669 Ptgds prostaglandin D2 synthase gene DOID:630 genetic disease ISO RGD:737496 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736669 Ptgds prostaglandin D2 synthase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:11182 D RGD:9068941 20200609 RGD PMID:15970590|REF_RGD_ID:1642581 8736669 Ptgds prostaglandin D2 synthase gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:737496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8736669 Ptgds prostaglandin D2 synthase gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:11182 D RGD:9068941 20200609 RGD PMID:15970590|REF_RGD_ID:1642581 8736669 Ptgds prostaglandin D2 synthase gene DOID:9352 type 2 diabetes mellitus ISO RGD:3433 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:16384826|REF_RGD_ID:1642580 8736680 LOC102030371 olfactory receptor 4D1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1346867 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8736680 LOC102030371 olfactory receptor 4D1 gene DOID:1059 intellectual disability ISO RGD:1346867 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8736680 LOC102030371 olfactory receptor 4D1 gene DOID:630 genetic disease ISO RGD:1346867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736686 Spmip7 sperm microtubule inner protein 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2902413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1346938 D RGD:7240710 20180130 OMIM 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1346938 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY PMID:10355668|PMID:11013453|PMID:11026449|PMID:11746627|PMID:12408867|PMID:15127317|PMID:15979945|PMID:16511644|PMID:17114047|PMID:19307729|PMID:19528245|PMID:19779067|PMID:20301785|PMID:21307345|PMID:21858020|PMID:2245301|PMID:22609616|PMID:23349320|PMID:25659636|PMID:25741868|PMID:26395884|PMID:26467025|PMID:26778656|PMID:27864847|PMID:28216637|PMID:28492532|PMID:28666963|PMID:29056246|PMID:29375859|PMID:29915382|PMID:30055040|PMID:30140249|PMID:32139178|PMID:32705822|PMID:34305802|PMID:34418069|PMID:34778950|PMID:35897654|PMID:7842011|PMID:8541859|PMID:8845167|PMID:9526001|PMID:9600245 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:25741868|PMID:34305802 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:25741868|PMID:28492532|PMID:34305802 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:11832 visual epilepsy ISO RGD:2949 D RGD:9068941 20200609 RGD PMID:22206926|REF_RGD_ID:10047237 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:1826 epilepsy ISO RGD:1552897 D RGD:9068941 20220825 MouseDO 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1552897 D RGD:9068941 20220825 MouseDO 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1346938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23349320|PMID:25741868|PMID:26467025|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040|PMID:7842011|PMID:8845167|PMID:9526001 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:9001275 Familial Atrial Fibrillation 7 ISO RGD:1346938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:28492532 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:9001302 Myokymia 1 ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myokymia 1 PMID:11026449|PMID:17136396|PMID:25741868 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1346938 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:9003935 Myokymia ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myokymia PMID:25741868|PMID:26467025|PMID:28492532 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8736703 Kcna1 potassium voltage-gated channel subfamily A member 1 gene DOID:963 episodic ataxia ISO RGD:1346938 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:25741868|PMID:26467025|PMID:28492532 8736710 Itgb1bp2 integrin subunit beta 1 binding protein 2 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 8736710 Itgb1bp2 integrin subunit beta 1 binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8736710 Itgb1bp2 integrin subunit beta 1 binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1350069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8736710 Itgb1bp2 integrin subunit beta 1 binding protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1558623 D RGD:9068941 20200609 RGD PMID:12496958|REF_RGD_ID:1582491 8736710 Itgb1bp2 integrin subunit beta 1 binding protein 2 gene DOID:630 genetic disease ISO RGD:1350069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736710 Itgb1bp2 integrin subunit beta 1 binding protein 2 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 8736748 Nrf1 nuclear respiratory factor 1 gene DOID:12858 Huntington's disease ISO RGD:1312138 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:20529956|REF_RGD_ID:6771173 8736748 Nrf1 nuclear respiratory factor 1 gene DOID:12858 Huntington's disease onset ISO RGD:1312137 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6949152, rs7781972 (human) PMID:21595933|REF_RGD_ID:6770890 8736748 Nrf1 nuclear respiratory factor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1312137 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 8736748 Nrf1 nuclear respiratory factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8736748 Nrf1 nuclear respiratory factor 1 gene DOID:630 genetic disease ISO RGD:1312137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736748 Nrf1 nuclear respiratory factor 1 gene DOID:9002669 Hypoxia treatment ISO RGD:1304603 D RGD:9068941 20230720 RGD mRNA:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8736748 Nrf1 nuclear respiratory factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1304603 D RGD:9068941 20230406 RGD mRNA, protein:increase expression:cerebral cortex PMID:18723421|REF_RGD_ID:2302400 8736748 Nrf1 nuclear respiratory factor 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1304603 D RGD:9068941 20200609 RGD mRNA:increased expression:hear right ventricle PMID:17704287|REF_RGD_ID:2302404 8736748 Nrf1 nuclear respiratory factor 1 gene DOID:9007170 Bowen's Disease ISO RGD:1312137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 8736748 Nrf1 nuclear respiratory factor 1 gene DOID:9970 obesity treatment ISO RGD:1304603 D RGD:9068941 20230720 RGD mRNA:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8736772 Rbms2 RNA binding motif single stranded interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736802 Dym dymeclin gene DOID:0060247 Smith-McCort dysplasia ISO RGD:1350887 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia PMID:25741868|PMID:28492532 8736802 Dym dymeclin gene DOID:0081270 Smith-McCort dysplasia 1 ISO RGD:1350887 D RGD:7240710 20221123 OMIM 8736802 Dym dymeclin gene DOID:0081270 Smith-McCort dysplasia 1 ISO RGD:1350887 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: DYM-related condition | ClinVar Annotator: match by term: Smith-McCort dysplasia 1 PMID:12491225|PMID:16097008|PMID:18996921|PMID:19005420|PMID:25741868|PMID:28492532 8736802 Dym dymeclin gene DOID:0111167 Dyggve-Melchior-Clausen disease ISO RGD:1350887 D RGD:7240710 20180130 OMIM 8736802 Dym dymeclin gene DOID:0111167 Dyggve-Melchior-Clausen disease ISO RGD:1350887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome PMID:12161821|PMID:12491225|PMID:12554689|PMID:16097008|PMID:16199547|PMID:18996921|PMID:22090722|PMID:25741868|PMID:28492532|PMID:32886330 8736802 Dym dymeclin gene DOID:10283 prostate cancer ISO RGD:1350887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8736802 Dym dymeclin gene DOID:1059 intellectual disability ISO RGD:1350887 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8736802 Dym dymeclin gene DOID:2256 osteochondrodysplasia ISO RGD:1350887 D RGD:9068941 20200609 RGD PMID:12491225|REF_RGD_ID:1598787 8736802 Dym dymeclin gene DOID:5419 schizophrenia ISO RGD:1350887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8736802 Dym dymeclin gene DOID:630 genetic disease ISO RGD:1350887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12491225|PMID:12554689|PMID:18996921|PMID:25741868|PMID:28492532 8736802 Dym dymeclin gene DOID:65 connective tissue disease ISO RGD:1350887 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8736827 Fmod fibromodulin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1353289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8736827 Fmod fibromodulin gene DOID:1540 parathyroid carcinoma ISO RGD:1353289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8736827 Fmod fibromodulin gene DOID:3087 gingivitis ISO RGD:1353289 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:15196146|REF_RGD_ID:2315079 8736827 Fmod fibromodulin gene DOID:630 genetic disease ISO RGD:1353289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736827 Fmod fibromodulin gene DOID:824 periodontitis ISO RGD:1353289 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:15196146|REF_RGD_ID:2315079 8736827 Fmod fibromodulin gene DOID:824 periodontitis ISO RGD:733886 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:15196146|REF_RGD_ID:2315079 8736827 Fmod fibromodulin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353289 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:Kidney Glomerulus PMID:11259366|REF_RGD_ID:2311416 8736827 Fmod fibromodulin gene DOID:9002165 Diabetic Nephropathies ISO RGD:733886 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:decreased expression:kidney cortex PMID:16868749|REF_RGD_ID:2311412 8736827 Fmod fibromodulin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8736827 Fmod fibromodulin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8736827 Fmod fibromodulin gene DOID:971 tendinitis ISO RGD:619769 D RGD:9068941 20200609 RGD PMID:19955224|REF_RGD_ID:2315073 8736837 Masp2 MBL associated serine protease 2 gene DOID:0050185 erythema multiforme ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 8736837 Masp2 MBL associated serine protease 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8736837 Masp2 MBL associated serine protease 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:24033266|PMID:28492532 8736837 Masp2 MBL associated serine protease 2 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 8736837 Masp2 MBL associated serine protease 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606320 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8736837 Masp2 MBL associated serine protease 2 gene DOID:0111936 immunodeficiency 14 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8736837 Masp2 MBL associated serine protease 2 gene DOID:1557 hypersensitivity reaction type III disease ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 8736837 Masp2 MBL associated serine protease 2 gene DOID:630 genetic disease ISO RGD:1606320 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8736837 Masp2 MBL associated serine protease 2 gene DOID:8577 ulcerative colitis ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 8736837 Masp2 MBL associated serine protease 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 8736837 Masp2 MBL associated serine protease 2 gene DOID:9002347 MASP2 Deficiency ISO RGD:1606320 D RGD:7240710 20180130 OMIM 8736837 Masp2 MBL associated serine protease 2 gene DOID:9002347 MASP2 Deficiency ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 | ClinVar Annotator: match by term: MASP2 deficiency PMID:12904520|PMID:15086395|PMID:16029433|PMID:17137870|PMID:17252003|PMID:19234189|PMID:19307021|PMID:24033266|PMID:24332888|PMID:24658431|PMID:25741868|PMID:25930971|PMID:28492532 8736837 Masp2 MBL associated serine protease 2 gene DOID:9005372 Inflammation ISO RGD:1606320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904520 8736837 Masp2 MBL associated serine protease 2 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1606320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 8736837 Masp2 MBL associated serine protease 2 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8736837 Masp2 MBL associated serine protease 2 gene DOID:9255 frontotemporal dementia ISO RGD:1606320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:24033266|PMID:28492532 8736863 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:0080128 mitochondrial DNA depletion syndrome 9 ISO RGD:1312779 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 8736863 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:14749 methylmalonic acidemia ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 8736863 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:289 endometriosis ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23284138 8736863 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:3910 lung adenocarcinoma ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8736863 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:630 genetic disease ISO RGD:1312779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8736863 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:9006205 Animal Disease Models ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8736863 Suclg2 succinate-CoA ligase GDP-forming subunit beta gene DOID:9970 obesity ISO RGD:1312779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8736888 Znf618 zinc finger protein 618 gene DOID:630 genetic disease ISO RGD:1321825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736914 Diaph2 diaphanous related formin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8736914 Diaph2 diaphanous related formin 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 8736914 Diaph2 diaphanous related formin 2 gene DOID:0080858 primary ovarian insufficiency 2A ISO RGD:1346222 D RGD:7240710 20180130 OMIM 8736914 Diaph2 diaphanous related formin 2 gene DOID:0080858 primary ovarian insufficiency 2A ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2A PMID:25741868|PMID:28492532 8736914 Diaph2 diaphanous related formin 2 gene DOID:12849 autistic disorder ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8736914 Diaph2 diaphanous related formin 2 gene DOID:13938 amenorrhea ISO RGD:1346222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8736914 Diaph2 diaphanous related formin 2 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:1346222 D RGD:9068941 20200609 RGD DNA:translocation:intron:t(X;12)(q21;p1.3) PMID:9070928|REF_RGD_ID:1601071 8736914 Diaph2 diaphanous related formin 2 gene DOID:630 genetic disease ISO RGD:1346222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736946 Prokr1 prokineticin receptor 1 gene DOID:10487 Hirschsprung's disease ISO RGD:733659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8736946 Prokr1 prokineticin receptor 1 gene DOID:2843 long QT syndrome ISO RGD:733659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8736946 Prokr1 prokineticin receptor 1 gene DOID:630 genetic disease ISO RGD:733659 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8736946 Prokr1 prokineticin receptor 1 gene DOID:9000641 Pain ISO RGD:733659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793879 8736946 Prokr1 prokineticin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:733659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793879 8736953 Hyal4 hyaluronidase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8736953 Hyal4 hyaluronidase 4 gene DOID:630 genetic disease ISO RGD:1347409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736958 Ice1 interactor of little elongation complex ELL subunit 1 gene DOID:630 genetic disease ISO RGD:2311267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736981 Gata2 GATA binding protein 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 8736981 Gata2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:734291 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23365458|PMID:23502222|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:25359990|PMID:25619630|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26492932|PMID:26702063|PMID:26812071|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28259234|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29588856|PMID:30578959|PMID:31035956|PMID:31246134|PMID:31256854|PMID:31340620|PMID:31350183|PMID:32135276|PMID:33510405|PMID:34576178|PMID:4508672 8736981 Gata2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:734291 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow: PMID:12145700|REF_RGD_ID:10450753 8736981 Gata2 GATA binding protein 2 gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:734291 D RGD:7240710 20240320 OMIM 8736981 Gata2 GATA binding protein 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:734291 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS | ClinVar Annotator: match by term: Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: IMMUNODEFICIENCY 21 | ClinVar Annotator: match by term: MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:16199547|PMID:17576681|PMID:18250304|PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22430350|PMID:22533337|PMID:22649106|PMID:22996659|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23560626|PMID:23563236|PMID:23728141|PMID:24033149|PMID:24033266|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:24578498|PMID:24728327|PMID:24754962|PMID:24782121|PMID:25239263|PMID:25241285|PMID:25326637|PMID:25359990|PMID:2543925|PMID:25619630|PMID:25624456|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26022708|PMID:26214525|PMID:26264606|PMID:26445707|PMID:26492932|PMID:26660446|PMID:26702063|PMID:26710799|PMID:26748574|PMID:26812071|PMID:27013649|PMID:27069254|PMID:27232273|PMID:27266944|PMID:27276561|PMID:27288520|PMID:27375010|PMID:27389056|PMID:27416790|PMID:27418648|PMID:27577878|PMID:27680514|PMID:27876779|PMID:27894982|PMID:27924436|PMID:28104920|PMID:28126493|PMID:28209719|PMID:28259234|PMID:28440875|PMID:28485484|PMID:28492532|PMID:28642594|PMID:28654364|PMID:28747912|PMID:28825694|PMID:28873162|PMID:28947108|PMID:29077208|PMID:29146883|PMID:29156497|PMID:29365323|PMID:29588856|PMID:29724903|PMID:29797310|PMID:29882021|PMID:29906362|PMID:30101490|PMID:30190467|PMID:30578959|PMID:30620726|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31350183|PMID:31710708|PMID:31732620|PMID:31753093|PMID:31958074|PMID:32088370|PMID:32098966|PMID:32135276|PMID:32497548|PMID:32555368|PMID:32682923|PMID:32888943|PMID:32914014|PMID:33363905|PMID:33370941|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33684095|PMID:33715335|PMID:34051752|PMID:34387894|PMID:34469508|PMID:34529785|PMID:34619682|PMID:34670919|PMID:34893945|PMID:35753512|PMID:4508672|PMID:453969|PMID:8701948|PMID:9536098 8736981 Gata2 GATA binding protein 2 gene DOID:0111947 immunodeficiency 21 susceptibility ISO RGD:734291 D RGD:7240710 20240320 OMIM 8736981 Gata2 GATA binding protein 2 gene DOID:10591 pre-eclampsia onset ISO RGD:734291 D RGD:9068941 20231019 RGD PMID:30659233|REF_RGD_ID:401850546 8736981 Gata2 GATA binding protein 2 gene DOID:1222 cartilage disease ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 8736981 Gata2 GATA binding protein 2 gene DOID:12449 aplastic anemia ISO RGD:734291 D RGD:9068941 20200609 RGD mRNA:decreased expression:CD34+ cell PMID:11328281|REF_RGD_ID:11049519 8736981 Gata2 GATA binding protein 2 gene DOID:1596 depressive disorder ISO RGD:734291 D RGD:9068941 20200609 RGD PMID:25340772|REF_RGD_ID:11049534 8736981 Gata2 GATA binding protein 2 gene DOID:2349 arteriosclerosis ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8736981 Gata2 GATA binding protein 2 gene DOID:2355 anemia ISO RGD:734291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:28492532 8736981 Gata2 GATA binding protein 2 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:734291 D RGD:9068941 20210716 RGD PMID:25230694|REF_RGD_ID:149735195 8736981 Gata2 GATA binding protein 2 gene DOID:4977 lymphedema ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892158 8736981 Gata2 GATA binding protein 2 gene DOID:630 genetic disease ISO RGD:734291 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8736981 Gata2 GATA binding protein 2 gene DOID:865 vasculitis ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8736981 Gata2 GATA binding protein 2 gene DOID:8692 myeloid leukemia disease_progression ISO RGD:734291 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L359V PMID:19304323|REF_RGD_ID:11049517 8736981 Gata2 GATA binding protein 2 gene DOID:9002514 Neointima ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8736981 Gata2 GATA binding protein 2 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 8736981 Gata2 GATA binding protein 2 gene DOID:9002720 Splenomegaly ISO RGD:734291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:25741868|PMID:28492532 8736981 Gata2 GATA binding protein 2 gene DOID:9004771 Vascular Remodeling ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8736981 Gata2 GATA binding protein 2 gene DOID:9005724 Fungal Lung Diseases ISO RGD:2664 D RGD:9068941 20200609 RGD associated with Pneumocystis Infections PMID:16774119|REF_RGD_ID:9587813 8736981 Gata2 GATA binding protein 2 gene DOID:9006709 Primary Graft Dysfunction ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8736981 Gata2 GATA binding protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734291 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21670465|PMID:22533337|PMID:24754962|PMID:25741868|PMID:26445707|PMID:28492532|PMID:28873162|PMID:29365323|PMID:29797310|PMID:33715335 8736981 Gata2 GATA binding protein 2 gene DOID:9008217 Hemorrhage ISO RGD:69110 D RGD:9068941 20200609 RGD PMID:22996665|REF_RGD_ID:11049511 8736981 Gata2 GATA binding protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 8736981 Gata2 GATA binding protein 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:734291 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:16199547|PMID:17576681|PMID:18250304|PMID:19449416|PMID:20040766|PMID:20803646|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21816832|PMID:21892158|PMID:21892162|PMID:21956389|PMID:22147895|PMID:22271902|PMID:22430350|PMID:22533337|PMID:22649106|PMID:22996659|PMID:2322343|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23560626|PMID:23563236|PMID:23728141|PMID:24033149|PMID:24033266|PMID:24077845|PMID:24167460|PMID:24227816|PMID:24266605|PMID:24345756|PMID:24359037|PMID:24514424|PMID:24578498|PMID:24728327|PMID:24754962|PMID:24782121|PMID:25239263|PMID:25241285|PMID:25326637|PMID:25359990|PMID:2543925|PMID:25619630|PMID:25624456|PMID:25676417|PMID:25741868|PMID:25879889|PMID:25955867|PMID:26022708|PMID:26214525|PMID:26264606|PMID:26445707|PMID:26492932|PMID:26660446|PMID:26702063|PMID:26710799|PMID:26716079|PMID:26748574|PMID:26767875|PMID:26812071|PMID:27013649|PMID:27069254|PMID:27232273|PMID:27266944|PMID:27276561|PMID:27288520|PMID:27375010|PMID:27389056|PMID:27416790|PMID:27418648|PMID:27577878|PMID:27680514|PMID:27799394|PMID:27876779|PMID:27894982|PMID:27924436|PMID:28066994|PMID:28104920|PMID:28126493|PMID:28209719|PMID:28234738|PMID:28259234|PMID:28271814|PMID:28373026|PMID:28440875|PMID:28485484|PMID:28492532|PMID:28602958|PMID:28642594|PMID:28654364|PMID:28747912|PMID:28825694|PMID:28873162|PMID:28947108|PMID:29146883|PMID:29146900|PMID:29156497|PMID:29178327|PMID:29189513|PMID:29230432|PMID:29279357|PMID:29365323|PMID:29588856|PMID:29680795|PMID:29724903|PMID:29797310|PMID:29882021|PMID:29906362|PMID:29947977|PMID:30030275|PMID:30101490|PMID:30190467|PMID:30280306|PMID:30564229|PMID:30578959|PMID:30620726|PMID:30697248|PMID:30802360|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31203817|PMID:31245276|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31350183|PMID:31710708|PMID:31732620|PMID:31753093|PMID:31785092|PMID:31958074|PMID:32088370|PMID:32098966|PMID:32135276|PMID:32488879|PMID:32497548|PMID:32555368|PMID:32682923|PMID:32865708|PMID:32888943|PMID:32914014|PMID:33363905|PMID:33370941|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33684095|PMID:33715335|PMID:33759087|PMID:33957466|PMID:34051752|PMID:34387894|PMID:34469508|PMID:34529785|PMID:34619682|PMID:34670919|PMID:34893945|PMID:35753512|PMID:4508672|PMID:453969|PMID:8701948|PMID:9536098 8736981 Gata2 GATA binding protein 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia susceptibility ISO RGD:734291 D RGD:7240710 20240320 OMIM 8736981 Gata2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:734291 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23223431|PMID:23365458|PMID:23502222|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:25239263|PMID:25359990|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26264606|PMID:26492932|PMID:26702063|PMID:26748574|PMID:26812071|PMID:27266944|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28104920|PMID:28440875|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29146883|PMID:29365323|PMID:29588856|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30578959|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31340620|PMID:31350183|PMID:32098966|PMID:32135276|PMID:33363905|PMID:33417088|PMID:33510405|PMID:4508672|PMID:8701948 8736981 Gata2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:734291 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23223431|PMID:23365458|PMID:23502222|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:25239263|PMID:25359990|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26264606|PMID:26492932|PMID:26702063|PMID:26748574|PMID:26812071|PMID:27266944|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28104920|PMID:28440875|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29146883|PMID:29365323|PMID:29588856|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30101490|PMID:30578959|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31340620|PMID:31350183|PMID:31753093|PMID:32098966|PMID:32135276|PMID:33363905|PMID:33417088|PMID:33510405|PMID:34529785|PMID:34670919|PMID:35753512|PMID:4508672|PMID:8701948 8736981 Gata2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:734291 D RGD:9068941 20200609 RGD PMID:22786876|PMID:25241285|REF_RGD_ID:11049510|REF_RGD_ID:11049515 8736981 Gata2 GATA binding protein 2 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:734291 D RGD:7240710 20240320 OMIM 8736981 Gata2 GATA binding protein 2 gene DOID:9270 alkaptonuria ISO RGD:734291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8736996 Eif2s2 eukaryotic translation initiation factor 2 subunit beta gene DOID:2843 long QT syndrome ISO RGD:1343864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8736996 Eif2s2 eukaryotic translation initiation factor 2 subunit beta gene DOID:630 genetic disease ISO RGD:1343864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8736996 Eif2s2 eukaryotic translation initiation factor 2 subunit beta gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1550333 D RGD:9068941 20200609 RGD PMID:19168544|REF_RGD_ID:10755431 8736996 Eif2s2 eukaryotic translation initiation factor 2 subunit beta gene DOID:9008939 Breast Neoplasms ISO RGD:1343864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:0050127 sinusitis ISO RGD:737124 D RGD:9068941 20200609 RGD protein: increased expression: nasal cavity epithelium PMID:21255638|REF_RGD_ID:6483060 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:0050589 inflammatory bowel disease ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:11780721|REF_RGD_ID:6482691 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:0080600 COVID-19 severity ISO RGD:737124 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:0081267 graft-versus-host disease ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21211989|REF_RGD_ID:6482796 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:10286 prostate carcinoma ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:23297038|REF_RGD_ID:13506769 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:10652 Alzheimer's disease ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:22279551|REF_RGD_ID:10449445 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:10763 hypertension ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:8869081|REF_RGD_ID:10449484 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:24334449|REF_RGD_ID:10449444 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:11132 prostatic hypertrophy ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:22689130|REF_RGD_ID:13506770 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:11832 visual epilepsy ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:14980813|REF_RGD_ID:1581758 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:12215 oligohydramnios ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17519529|REF_RGD_ID:2292203 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:127 leiomyoma ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:16294022|REF_RGD_ID:2292153 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:13207 proliferative diabetic retinopathy ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:19799585|REF_RGD_ID:10449447 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:13208 background diabetic retinopathy ISO RGD:737124 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous: PMID:19799585|REF_RGD_ID:10449447 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:13580 cholestasis ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cholangiocyte, bible duct: PMID:10424289|REF_RGD_ID:10449495 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:182 calcinosis ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:2224 essential thrombocythemia ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:2696 Leydig cell tumor ISO RGD:737124 D RGD:9068941 20200609 RGD protein:increased expression:testis, leydig cell PMID:11994382|REF_RGD_ID:2298579 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:2841 asthma ISO RGD:11068 D RGD:9068941 20200609 RGD protein: increased expression PMID:21216974|REF_RGD_ID:6483071 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:2841 asthma ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:21216974|REF_RGD_ID:6483071 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:2921 glomerulonephritis treatment ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:11316849|REF_RGD_ID:10449490 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:3068 glioblastoma ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21210235|REF_RGD_ID:6482799 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:3070 high grade glioma ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21677873|REF_RGD_ID:13702897 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:3070 high grade glioma severity ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:26945107|PMID:27448842|REF_RGD_ID:13702895|REF_RGD_ID:13702896 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:3454 brain infarction ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:14980813|REF_RGD_ID:1581758 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:737124 D RGD:7240710 20180130 OMIM 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans PMID:28492532 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:3565 meningioma ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meningioma PMID:2212004|PMID:3133569|PMID:3969118 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:3594 choriocarcinoma ISO RGD:737124 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cytotrophoblast cell PMID:8504434|REF_RGD_ID:2292200 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:3770 pulmonary fibrosis ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:21868503|PMID:22523431|REF_RGD_ID:6482756|REF_RGD_ID:6482831 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:3770 pulmonary fibrosis ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286697 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:23879920|PMID:25766258|REF_RGD_ID:13504817|REF_RGD_ID:13506650 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:4586 familial meningioma ISO RGD:737124 D RGD:7240710 20230505 OMIM 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:4586 familial meningioma ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:25741868 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:4989 pancreatitis ISO RGD:737124 D RGD:9068941 20200609 RGD protein: increased expression: serum PMID:21750433|REF_RGD_ID:6483007 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:5082 liver cirrhosis ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:22407906|REF_RGD_ID:6482858 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:5082 liver cirrhosis ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA: increased expression PMID:22539040|REF_RGD_ID:6482830 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:5199 ureteral obstruction ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:10644908|REF_RGD_ID:10449497 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:5679 retinal disease ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11840346 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:630 genetic disease ISO RGD:737124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:6432 pulmonary hypertension ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:22523431|REF_RGD_ID:6482831 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:6432 pulmonary hypertension ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:21819559|PMID:8447423|REF_RGD_ID:1580847|REF_RGD_ID:6482859 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:6432 pulmonary hypertension ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21819559|REF_RGD_ID:6482859 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:679 basal ganglia disease ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:684 hepatocellular carcinoma ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20506153 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:7148 rheumatoid arthritis ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:1708827|REF_RGD_ID:6482653 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9000039 Spinal Cord Injuries ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:21568693|REF_RGD_ID:6482306 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9000081 Lymphatic Metastasis ISO RGD:737124 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:lymph node PMID:17674348|REF_RGD_ID:2292173 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:11068 D RGD:9068941 20200609 RGD PMID:17195235|REF_RGD_ID:6482660 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22004089 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9000784 Fibrosis ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:11780721|PMID:8644858|REF_RGD_ID:6482673|REF_RGD_ID:6482691 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9000965 Neoplasm Metastasis ISO RGD:737124 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA, protein:increased expression:breast PMID:16596190|REF_RGD_ID:2292179 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9000998 Brain Injuries ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, hippocampus PMID:9645955|REF_RGD_ID:11084932 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9001036 Penetrating Head Injuries ISO RGD:3283 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:7526956|REF_RGD_ID:10449485 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9001547 Tibial Fractures treatment ISO RGD:737124 D RGD:9068941 20200609 RGD associated with Osteoporosis; PMID:17676626|REF_RGD_ID:10449446 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9001600 Wounds and Injuries ISO RGD:3283 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12533868|REF_RGD_ID:2292211 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9001600 Wounds and Injuries treatment ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:3280728|REF_RGD_ID:10449501 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:11889420|REF_RGD_ID:11080974 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:15785371|REF_RGD_ID:10449491 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9002165 Diabetic Nephropathies ISO RGD:737124 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent PMID:15067514|REF_RGD_ID:2311646 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9002231 Fetal Growth Retardation ISO RGD:737124 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:11005132|REF_RGD_ID:2311066 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9002514 Neointima ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:8585266|REF_RGD_ID:10449489 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9002699 Periapical Diseases ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:17509411|REF_RGD_ID:10449488 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:16042218|REF_RGD_ID:11080975 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:10215166|REF_RGD_ID:10449494 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9004086 AIDS Dementia Complex ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:21368226|REF_RGD_ID:6482787 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:2696512|REF_RGD_ID:10449500 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9004933 Idiopathic Basal Ganglia Calcification 5 ISO RGD:737124 D RGD:7240710 20180130 OMIM 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9004933 Idiopathic Basal Ganglia Calcification 5 ISO RGD:737124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 PMID:21409505|PMID:23913003|PMID:25741868 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9005372 Inflammation ISO RGD:737124 D RGD:9068941 20200609 RGD PMID:11780721|REF_RGD_ID:6482691 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11068 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:14685146|REF_RGD_ID:2311648 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:9763208|REF_RGD_ID:10449499 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA: increased expression: mesenteric artery PMID:21367419|REF_RGD_ID:6483042 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:8094359|REF_RGD_ID:2311650 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:12606528|REF_RGD_ID:1581759 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9006010 Gingival Hyperplasia ISO RGD:737124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8708960 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3283 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tubule, S3 segment: PMID:10550325|REF_RGD_ID:8554477 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:737124 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:25741868 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9008091 Optic Nerve Injuries ISO RGD:3283 D RGD:9068941 20200609 RGD protein:decreased expression:nerve fiber: PMID:9893812|REF_RGD_ID:10449496 8737027 Pdgfb platelet derived growth factor subunit B gene DOID:9008691 Liver Injury ISO RGD:3283 D RGD:9068941 20200609 RGD PMID:8119696|REF_RGD_ID:10449498 8737038 CUNH8orf76 chromosome unknown C8orf76 homolog gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8737038 CUNH8orf76 chromosome unknown C8orf76 homolog gene DOID:630 genetic disease ISO RGD:1602854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737061 Setd4 SET domain containing 4 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8737061 Setd4 SET domain containing 4 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8737061 Setd4 SET domain containing 4 gene DOID:1588 thrombocytopenia ISO RGD:1353006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 8737061 Setd4 SET domain containing 4 gene DOID:630 genetic disease ISO RGD:1353006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737061 Setd4 SET domain containing 4 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1353006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 8737061 Setd4 SET domain containing 4 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:1353006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:25741868|PMID:34355501 8737112 Slco4c1 solute carrier organic anion transporter family member 4C1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8737112 Slco4c1 solute carrier organic anion transporter family member 4C1 gene DOID:1074 kidney failure ISO RGD:1303048 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:14993604|REF_RGD_ID:1303977 8737112 Slco4c1 solute carrier organic anion transporter family member 4C1 gene DOID:630 genetic disease ISO RGD:1354473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737112 Slco4c1 solute carrier organic anion transporter family member 4C1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8737112 Slco4c1 solute carrier organic anion transporter family member 4C1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8737137 Zswim4 zinc finger SWIM-type containing 4 gene DOID:630 genetic disease ISO RGD:1345804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737158 Luc7l LUC7 like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316796 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8737158 Luc7l LUC7 like gene DOID:1826 epilepsy ISO RGD:1316796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 8737158 Luc7l LUC7 like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8737158 Luc7l LUC7 like gene DOID:630 genetic disease ISO RGD:1316796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:0070019 autosomal recessive dyskeratosis congenita 3 ISO RGD:1605665 D RGD:7240710 20180130 OMIM 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:0070019 autosomal recessive dyskeratosis congenita 3 ISO RGD:1605665 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related condition PMID:17683073|PMID:20301779|PMID:21205863|PMID:24033266|PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532|PMID:32303682|PMID:34573280|PMID:37149759 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1605665 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:12177 common variable immunodeficiency ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605665 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:1612 breast cancer ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:1612 breast cancer no_association ISO RGD:1605665 D RGD:9068941 20200609 RGD DNA:SNP: : rs2287499(human) PMID:25134915|REF_RGD_ID:21081531 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:1984 rectal benign neoplasm treatment ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:22805008|REF_RGD_ID:21081677 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:26426684|REF_RGD_ID:11522675 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:2394 ovarian cancer susceptibility ISO RGD:1605665 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:23192612|REF_RGD_ID:21081534 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:2729 dyskeratosis congenita ISO RGD:1605665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:17683073|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24033266|PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:17576681|PMID:17683073|PMID:18511570|PMID:20522432|PMID:21056402|PMID:23172776|PMID:24033266|PMID:25741868|PMID:25762628|PMID:26681312|PMID:28492532|PMID:9242456|PMID:9536098 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1605665 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:10980596|PMID:17576681|PMID:17683073|PMID:18511570|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24033266|PMID:25741868|PMID:25762628|PMID:26681312|PMID:28369373|PMID:28492532|PMID:32191290|PMID:9242456|PMID:9536098 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:24626331|REF_RGD_ID:21081532 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:30344734|REF_RGD_ID:21081519 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD RNA:increased expression:lung PMID:31281482|REF_RGD_ID:21081513 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:28347242|REF_RGD_ID:21081522 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:5520 head and neck squamous cell carcinoma treatment ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:25070141|PMID:25456005|REF_RGD_ID:21081529|REF_RGD_ID:21081533 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:630 genetic disease ISO RGD:1605665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:684 hepatocellular carcinoma ISO RGD:1605665 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:26551349|REF_RGD_ID:11096781 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:7031 glottis squamous cell carcinoma disease_progression ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:28849066|REF_RGD_ID:21081521 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605665 D RGD:9068941 20200609 RGD associated with esophagus squamous cell carcinoma; PMID:24626331|REF_RGD_ID:21081532 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605665 D RGD:9068941 20200609 RGD associated with lung non-small cell carcinoma; PMID:31281482|REF_RGD_ID:21081513 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1605665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605665 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21205863|PMID:25741868|PMID:28492532|PMID:9536098 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605665 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:20301779|PMID:21205863|PMID:25741868|PMID:28492532|PMID:32303682|PMID:37149759|PMID:9536098 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:9007633 Body Weight ISO RGD:1605665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31243981 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:9256 colorectal cancer ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:30175821|REF_RGD_ID:21081520 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:9256 colorectal cancer onset ISO RGD:1605665 D RGD:9068941 20200609 RGD PMID:26013439|REF_RGD_ID:21081528 8737172 Wrap53 WD repeat containing antisense to TP53 gene DOID:9261 nasopharynx carcinoma ISO RGD:1605665 D RGD:9068941 20200609 RGD associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium PMID:28607398|REF_RGD_ID:21081524 8737217 Mall mal, T cell differentiation protein like gene DOID:0050795 cone dystrophy ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:28041643 8737217 Mall mal, T cell differentiation protein like gene DOID:0060041 autism spectrum disorder ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 8737217 Mall mal, T cell differentiation protein like gene DOID:0110999 Joubert syndrome 4 ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:25741868 8737217 Mall mal, T cell differentiation protein like gene DOID:0111112 nephronophthisis 1 ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 PMID:10839884|PMID:10980528 8737217 Mall mal, T cell differentiation protein like gene DOID:12712 nephronophthisis ISO RGD:1342796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10620543|PMID:10839884|PMID:15138899|PMID:24746959|PMID:28492532|PMID:8852662 8737217 Mall mal, T cell differentiation protein like gene DOID:630 genetic disease ISO RGD:1342796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737225 Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:1345038 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868|PMID:28492532|PMID:30847666 8737225 Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1345038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8737225 Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8737225 Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:12849 autistic disorder ISO RGD:1345038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8737225 Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 gene DOID:630 genetic disease ISO RGD:1345038 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8737240 Anxa10 annexin A10 gene DOID:1793 pancreatic cancer ISO RGD:1318989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369074 8737240 Anxa10 annexin A10 gene DOID:630 genetic disease ISO RGD:1318989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737240 Anxa10 annexin A10 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1318989 D RGD:9068941 20220901 RGD mRNA:decreased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:127 leiomyoma ISO RGD:735616 D RGD:9068941 20200609 RGD uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray PMID:15705628|REF_RGD_ID:2301708 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:1612 breast cancer ISO RGD:735616 D RGD:9068941 20200609 RGD protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.016) PMID:10069662|REF_RGD_ID:2301715 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:1612 breast cancer no_association ISO RGD:735616 D RGD:9068941 20200609 RGD lower serum expression in cases vs controls but association not significant in multivariate analysis PMID:17287408|REF_RGD_ID:2301716 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:2773 contact dermatitis ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:289 endometriosis ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:630 genetic disease ISO RGD:735616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:8719 in situ carcinoma ISO RGD:735616 D RGD:9068941 20200609 RGD testicular CIS; mRNA:increased expression:tumor PMID:15123780|REF_RGD_ID:2301712 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15846301 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:735616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:9007692 Insulin Resistance ISO RGD:735616 D RGD:9068941 20200609 RGD human transgene overexpressed in mouse brain PMID:15889232|REF_RGD_ID:2301717 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:9719 neovascular inflammatory vitreoretinopathy severity ISO RGD:735616 D RGD:9068941 20200609 RGD protein:increased expression:vitreous,serum: PMID:23808406|REF_RGD_ID:10411880 8737255 Igfbp6 insulin like growth factor binding protein 6 gene DOID:9970 obesity ISO RGD:735616 D RGD:9068941 20200609 RGD human transgene overexpressed in mouse brain PMID:15889232|REF_RGD_ID:2301717 8737268 Calcrl calcitonin receptor like receptor gene DOID:0080600 COVID-19 ISO RGD:733108 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8737268 Calcrl calcitonin receptor like receptor gene DOID:3042 allergic contact dermatitis ISO RGD:733108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8737268 Calcrl calcitonin receptor like receptor gene DOID:3454 brain infarction ISO RGD:2255 D RGD:9068941 20230527 RGD mRNA:increased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8737268 Calcrl calcitonin receptor like receptor gene DOID:630 genetic disease ISO RGD:733108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737268 Calcrl calcitonin receptor like receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8737268 Calcrl calcitonin receptor like receptor gene DOID:9006957 Lymphatic Malformation 8 ISO RGD:733108 D RGD:7240710 20200226 OMIM 8737268 Calcrl calcitonin receptor like receptor gene DOID:9006957 Lymphatic Malformation 8 ISO RGD:733108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 8 PMID:25741868 8737328 Rptor regulatory associated protein of MTOR complex 1 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1603019 D RGD:9068941 20231102 RGD DNA:SNP:: (rs1062935) (human) PMID:18438686|REF_RGD_ID:401851917 8737328 Rptor regulatory associated protein of MTOR complex 1 gene DOID:630 genetic disease ISO RGD:1603019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737328 Rptor regulatory associated protein of MTOR complex 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1603019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8737328 Rptor regulatory associated protein of MTOR complex 1 gene DOID:9009121 lung metastasis ISO RGD:1323418 D RGD:9068941 20220630 RGD PMID:29809146|REF_RGD_ID:152995516 8737328 Rptor regulatory associated protein of MTOR complex 1 gene DOID:9923 developmental coordination disorder ISO RGD:1603019 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:32773031 8737378 P4ha3 prolyl 4-hydroxylase subunit alpha 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1346978 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8737378 P4ha3 prolyl 4-hydroxylase subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:1346978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8737378 P4ha3 prolyl 4-hydroxylase subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1346978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737394 Patl2 PAT1 homolog 2 gene DOID:0050712 AGAT deficiency ISO RGD:2303478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8737394 Patl2 PAT1 homolog 2 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:2303478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:19105190|PMID:20110243|PMID:22154821|PMID:26556829|PMID:28492532 8737394 Patl2 PAT1 homolog 2 gene DOID:1100 ovarian disease ISO RGD:1317343 D RGD:9068941 20220825 MouseDO 8737394 Patl2 PAT1 homolog 2 gene DOID:2717 Bloom syndrome ISO RGD:2303478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8737394 Patl2 PAT1 homolog 2 gene DOID:630 genetic disease ISO RGD:2303478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737394 Patl2 PAT1 homolog 2 gene DOID:9000602 Oocyte Maturation Defect 4 ISO RGD:2303478 D RGD:7240710 20190315 OMIM 8737394 Patl2 PAT1 homolog 2 gene DOID:9000602 Oocyte Maturation Defect 4 ISO RGD:2303478 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 4 PMID:24033266|PMID:25741868|PMID:28965844|PMID:28965849|PMID:29661911|PMID:32552793|PMID:35091966 8737394 Patl2 PAT1 homolog 2 gene DOID:9008845 Oocyte Maturation Defect 2 ISO RGD:2303478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 2 PMID:24033266|PMID:25741868|PMID:28965844|PMID:29661911|PMID:32552793 8737394 Patl2 PAT1 homolog 2 gene DOID:9256 colorectal cancer ISO RGD:2303478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8737426 Golph3 golgi phosphoprotein 3 gene DOID:630 genetic disease ISO RGD:1349293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737426 Golph3 golgi phosphoprotein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8737426 Golph3 golgi phosphoprotein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1349293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8737442 Gna15 G protein subunit alpha 15 gene DOID:630 genetic disease ISO RGD:732130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737442 Gna15 G protein subunit alpha 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8737456 Lamtor4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8737456 Lamtor4 late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 gene DOID:630 genetic disease ISO RGD:1604690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0050562 West syndrome ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome PMID:20887364|PMID:21193638|PMID:22612257|PMID:23934111|PMID:25326390|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:29186148|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30540253|PMID:30842647|PMID:31221716|PMID:31474318|PMID:32112430 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20876469|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29655203|PMID:29896790|PMID:30109124|PMID:30397338|PMID:30504930|PMID:30842647|PMID:31255830|PMID:31474318|PMID:32238909|PMID:32581362|PMID:9536098 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23409955|PMID:23757202|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25131622|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:29186148|PMID:29264391|PMID:29655203|PMID:29761117|PMID:30397338|PMID:30504930|PMID:30842647|PMID:31255830|PMID:31474318|PMID:32238909|PMID:32581362|PMID:9536098 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20603329|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21364700|PMID:21762454|PMID:21770924|PMID:21900502|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25326390|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25640679|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29538625|PMID:29655203|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30397338|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31332438|PMID:31474318|PMID:31780880|PMID:32112430|PMID:32238909|PMID:32521962|PMID:32581362|PMID:32643187|PMID:32960281|PMID:33004838|PMID:33196034|PMID:33206935|PMID:33272087|PMID:34445196|PMID:34489640|PMID:35007884|PMID:35655584|PMID:9536098 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:20887364|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26865513|PMID:26918652|PMID:27159321|PMID:28135719|PMID:28492532 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0050889 non-syndromic intellectual disability ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:25741868|PMID:28708303 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0050952 spastic ataxia ISO RGD:737322 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187|PMID:34445196 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:23858467|PMID:25741868|PMID:28492532|PMID:30504930|PMID:31175295|PMID:33272087 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27779742|PMID:28135719|PMID:28492532|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30842647|PMID:31474318|PMID:32238909 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23934111|PMID:24033266|PMID:24781210|PMID:25326635|PMID:25356970|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32643187 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:737322 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:17576681|PMID:18414213|PMID:19557857|PMID:20887364|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24315539|PMID:24781210|PMID:25008876|PMID:25326635|PMID:25356970|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27779742|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:29186148|PMID:29264391|PMID:29761117|PMID:30185235|PMID:30842647|PMID:31474318|PMID:32238909|PMID:32371413|PMID:32643187|PMID:33176815|PMID:9536098 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm PMID:18414213|PMID:20887364|PMID:22612257|PMID:24781210|PMID:25356970|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26795593|PMID:26865513|PMID:26993267|PMID:27779742|PMID:28492532|PMID:29264391|PMID:30185235|PMID:30842647|PMID:32643187 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737322 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21193638|PMID:23934111|PMID:25326390|PMID:25533962|PMID:25741868|PMID:26865513|PMID:28492532|PMID:29186148|PMID:29761117|PMID:30174244|PMID:30266908|PMID:30540253|PMID:31221716|PMID:31474318|PMID:32112430 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:737322 D RGD:7240710 20180130 OMIM 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:737322 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 | ClinVar Annotator: match by term: STXBP1-associated neurodevelopmental disorder PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21204804|PMID:21364700|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22612257|PMID:23409955|PMID:23533165|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25284778|PMID:25326390|PMID:25326635|PMID:25356970|PMID:25418441|PMID:25473036|PMID:25497044|PMID:25533962|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:25951140|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26740508|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28191889|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29389947|PMID:29655203|PMID:29758562|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31474318|PMID:31780880|PMID:31855252|PMID:32112430|PMID:32238909|PMID:32371413|PMID:32581362|PMID:32643187|PMID:33004838|PMID:33176815|PMID:33196034|PMID:33272087|PMID:34008892|PMID:34906502|PMID:35002760|PMID:35007884|PMID:35190816|PMID:35655584|PMID:9536098 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:11361 D RGD:9068941 20200609 RGD PMID:26216965|REF_RGD_ID:11532386 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:11361 D RGD:9068941 20200609 RGD protein:increased expression:photoreceptor outer segment layer PMID:26216965|REF_RGD_ID:11532386 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0110928 nemaline myopathy 2 ISO RGD:737322 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:27854218|PMID:28492532 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20603329|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21364700|PMID:21762454|PMID:21770924|PMID:21900502|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25326390|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25640679|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29538625|PMID:29655203|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30397338|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31332438|PMID:31474318|PMID:31780880|PMID:32112430|PMID:32238909|PMID:32521962|PMID:32581362|PMID:32643187|PMID:32960281|PMID:33004838|PMID:33196034|PMID:33206935|PMID:33272087|PMID:34489640|PMID:35007884|PMID:35655584|PMID:9536098 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737322 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20603329|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21193638|PMID:21364700|PMID:21762454|PMID:21770924|PMID:21900502|PMID:22211739|PMID:22368301|PMID:22495311|PMID:22612257|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23662938|PMID:23708187|PMID:23757202|PMID:23858467|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:24623842|PMID:24781210|PMID:25008876|PMID:25131622|PMID:25326390|PMID:25356970|PMID:25418441|PMID:25497044|PMID:25533962|PMID:25556537|PMID:25640679|PMID:25658047|PMID:25693842|PMID:25714420|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26648591|PMID:26795593|PMID:26865513|PMID:26918652|PMID:26993267|PMID:27069701|PMID:27159321|PMID:27171548|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28133863|PMID:28135719|PMID:28387360|PMID:28387369|PMID:28492532|PMID:28628100|PMID:28947817|PMID:29056246|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29314583|PMID:29538625|PMID:29655203|PMID:29761117|PMID:29896790|PMID:30174244|PMID:30185235|PMID:30266908|PMID:30397338|PMID:30488659|PMID:30504930|PMID:30540253|PMID:30842647|PMID:31175295|PMID:31221716|PMID:31255830|PMID:31332438|PMID:31474318|PMID:31780880|PMID:32112430|PMID:32238909|PMID:32521962|PMID:32581362|PMID:32643187|PMID:32960281|PMID:33004838|PMID:33196034|PMID:33206935|PMID:33272087|PMID:34445196|PMID:34489640|PMID:35007884|PMID:35655584|PMID:9536098 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:10283 prostate cancer ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:1059 intellectual disability ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:20887364|PMID:21770924|PMID:22612257|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:25008876|PMID:25418441|PMID:25533962|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:30842647|PMID:32581362 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:1059 intellectual disability ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:20887364|PMID:21770924|PMID:22612257|PMID:23708187|PMID:23934111|PMID:24033266|PMID:24189369|PMID:24315539|PMID:25008876|PMID:25418441|PMID:25533962|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26514728|PMID:26544041|PMID:26633542|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27779742|PMID:28133863|PMID:28135719|PMID:28492532|PMID:29067685|PMID:29186148|PMID:30185235|PMID:30842647|PMID:32581362|PMID:33196034 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:10907 microcephaly ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:11361 D RGD:9068941 20200609 RGD PMID:26604869|REF_RGD_ID:12903957 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:12849 autistic disorder ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:23708187|PMID:23934111|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:12849 autistic disorder ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism PMID:23708187|PMID:23934111|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:1289 neurodegenerative disease ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:23708187|PMID:23934111|PMID:25741868|PMID:26514728|PMID:26544041|PMID:26633542|PMID:28492532|PMID:32581362 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:1826 epilepsy ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:24189369|PMID:25418441|PMID:25741868|PMID:28133863|PMID:28492532 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:540 strabismus ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Strabismus PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:630 genetic disease ISO RGD:737322 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16806828|PMID:16829045|PMID:17301226|PMID:17576681|PMID:18414213|PMID:18469812|PMID:19557857|PMID:20196795|PMID:20876469|PMID:20887364|PMID:21062273|PMID:21204804|PMID:21364700|PMID:21762454|PMID:21770924|PMID:22495311|PMID:22722545|PMID:23020937|PMID:23409955|PMID:23708187|PMID:23858467|PMID:23934111|PMID:24315539|PMID:24623842|PMID:24781210|PMID:24836964|PMID:25008876|PMID:25131622|PMID:25284778|PMID:25356970|PMID:25533962|PMID:25556537|PMID:25621899|PMID:25714420|PMID:25741868|PMID:25914188|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26537360|PMID:26544041|PMID:26633542|PMID:26740508|PMID:26795593|PMID:26865513|PMID:26993267|PMID:27069701|PMID:27184330|PMID:27652284|PMID:27779742|PMID:27798625|PMID:28492532|PMID:29067685|PMID:29186148|PMID:29264391|PMID:29761117|PMID:29896790|PMID:30504930|PMID:31175295|PMID:31255830|PMID:32238909|PMID:32581362|PMID:32643187|PMID:32960281|PMID:33196034|PMID:33272087|PMID:34445196|PMID:35007884|PMID:35655584|PMID:9536098|PMID:9545644 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:9000495 Tremor ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: tremors PMID:20887364|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26865513|PMID:26918652|PMID:27159321|PMID:28135719|PMID:28492532 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:737322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:20887364|PMID:21762454|PMID:23934111|PMID:24033266|PMID:25533962|PMID:25741868|PMID:26384463|PMID:26648591|PMID:26865513|PMID:26918652|PMID:27159321|PMID:27171548|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28947817|PMID:32581362 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737322 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25131622|PMID:25741868|PMID:25951140|PMID:26514728|PMID:26633542|PMID:27184330|PMID:35002760 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:737322 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:18469812|PMID:29929108 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:737322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:9008582 Developmental Disease ISO RGD:737322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:22495311|PMID:23409955|PMID:25741868|PMID:26467025|PMID:26514728|PMID:26865513|PMID:27069701|PMID:28492532 8737462 Stxbp1 syntaxin binding protein 1 gene DOID:9650 pathologic nystagmus ISO RGD:737322 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Horizontal nystagmus PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 8737485 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:0111212 autosomal dominant distal hereditary motor neuronopathy 9 ISO RGD:1317961 D RGD:7240710 20190315 OMIM 8737485 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:0111212 autosomal dominant distal hereditary motor neuronopathy 9 ISO RGD:1317961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9 PMID:25741868|PMID:28369220|PMID:31069783|PMID:31321409 8737485 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1317961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 8737485 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:5419 schizophrenia ISO RGD:1317961 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8737485 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1317961 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:35790048 8737485 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:9003923 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES ISO RGD:1317961 D RGD:7240710 20230621 OMIM 8737485 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:9003923 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES ISO RGD:1317961 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities PMID:25741868|PMID:34585293|PMID:35790048|PMID:35815345 8737485 Wars1 tryptophanyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317961 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 8737509 Mrpl22 mitochondrial ribosomal protein L22 gene DOID:630 genetic disease ISO RGD:1319534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737536 Nuggc nuclear GTPase, germinal center associated gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1626574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8737536 Nuggc nuclear GTPase, germinal center associated gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1626574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8737536 Nuggc nuclear GTPase, germinal center associated gene DOID:630 genetic disease ISO RGD:1626574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737574 Fam184a family with sequence similarity 184 member A gene DOID:1059 intellectual disability ISO RGD:1322675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8737574 Fam184a family with sequence similarity 184 member A gene DOID:10907 microcephaly ISO RGD:1322675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8737574 Fam184a family with sequence similarity 184 member A gene DOID:12849 autistic disorder ISO RGD:1322675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 8737574 Fam184a family with sequence similarity 184 member A gene DOID:1826 epilepsy ISO RGD:1322675 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8737574 Fam184a family with sequence similarity 184 member A gene DOID:303 substance-related disorder ISO RGD:1322675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8737574 Fam184a family with sequence similarity 184 member A gene DOID:630 genetic disease ISO RGD:1322675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737574 Fam184a family with sequence similarity 184 member A gene DOID:9000495 Tremor ISO RGD:1322675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8737604 Ca5b carbonic anhydrase 5B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8737604 Ca5b carbonic anhydrase 5B gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1343079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 8737604 Ca5b carbonic anhydrase 5B gene DOID:12849 autistic disorder ISO RGD:1343079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8737604 Ca5b carbonic anhydrase 5B gene DOID:13636 Fanconi anemia ISO RGD:1343079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8737604 Ca5b carbonic anhydrase 5B gene DOID:630 genetic disease ISO RGD:1343079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737604 Ca5b carbonic anhydrase 5B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8737621 Cenpi centromere protein I gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8737621 Cenpi centromere protein I gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:733555 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8737621 Cenpi centromere protein I gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:733555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8737621 Cenpi centromere protein I gene DOID:12849 autistic disorder ISO RGD:733555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8737621 Cenpi centromere protein I gene DOID:5426 primary ovarian insufficiency ISO RGD:733555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8737621 Cenpi centromere protein I gene DOID:630 genetic disease ISO RGD:733555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737621 Cenpi centromere protein I gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:733555 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 8737645 Med15 mediator complex subunit 15 gene DOID:0060041 autism spectrum disorder ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8737645 Med15 mediator complex subunit 15 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1316826 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8737645 Med15 mediator complex subunit 15 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1316826 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8737645 Med15 mediator complex subunit 15 gene DOID:10487 Hirschsprung's disease ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8737645 Med15 mediator complex subunit 15 gene DOID:1059 intellectual disability ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8737645 Med15 mediator complex subunit 15 gene DOID:11198 DiGeorge syndrome ISO RGD:1316826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8737645 Med15 mediator complex subunit 15 gene DOID:11372 megacolon ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8737645 Med15 mediator complex subunit 15 gene DOID:12583 velocardiofacial syndrome ISO RGD:1316826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8737645 Med15 mediator complex subunit 15 gene DOID:12849 autistic disorder ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8737645 Med15 mediator complex subunit 15 gene DOID:1826 epilepsy ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8737645 Med15 mediator complex subunit 15 gene DOID:2213 hemorrhagic disease ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8737645 Med15 mediator complex subunit 15 gene DOID:5419 schizophrenia ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8737645 Med15 mediator complex subunit 15 gene DOID:612 primary immunodeficiency disease ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8737645 Med15 mediator complex subunit 15 gene DOID:630 genetic disease ISO RGD:1316826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737645 Med15 mediator complex subunit 15 gene DOID:9003871 Venous Thrombosis ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8737645 Med15 mediator complex subunit 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8737680 Mapk4 mitogen-activated protein kinase 4 gene DOID:1059 intellectual disability ISO RGD:736964 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8737680 Mapk4 mitogen-activated protein kinase 4 gene DOID:630 genetic disease ISO RGD:736964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737693 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8737693 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8737693 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8737693 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:630 genetic disease ISO RGD:1348448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737693 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8737693 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1348448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8737693 Pknox2 PBX/knotted 1 homeobox 2 gene DOID:9007661 Dwarfism ISO RGD:1348448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8737717 Trim23 tripartite motif containing 23 gene DOID:630 genetic disease ISO RGD:1606340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737717 Trim23 tripartite motif containing 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8737732 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0050742 nicotine dependence ISO RGD:733511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418888 8737732 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0060001 withdrawal disorder ISO RGD:733511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19644040 8737732 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0090039 torsion dystonia 6 ISO RGD:733511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 8737732 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:0111959 immunodeficiency 15B ISO RGD:733511 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8737732 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:630 genetic disease ISO RGD:733511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737732 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:733511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28851948 8737732 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 8737732 Chrna6 cholinergic receptor nicotinic alpha 6 subunit gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8737740 Amd1 adenosylmethionine decarboxylase 1 gene DOID:0112221 developmental and epileptic encephalopathy 87 ISO RGD:1351440 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 PMID:25741868|PMID:32330417|PMID:33134521|PMID:33495529|PMID:33568421 8737740 Amd1 adenosylmethionine decarboxylase 1 gene DOID:10283 prostate cancer ISO RGD:1351440 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:30397274|REF_RGD_ID:14390073 8737740 Amd1 adenosylmethionine decarboxylase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1351440 D RGD:9068941 20200609 RGD DNA:SNP: :rs1279590(human) PMID:30650190|REF_RGD_ID:14390072 8737740 Amd1 adenosylmethionine decarboxylase 1 gene DOID:630 genetic disease ISO RGD:1351440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737740 Amd1 adenosylmethionine decarboxylase 1 gene DOID:9002569 Overweight ISO RGD:1351440 D RGD:9068941 20200609 RGD DNA:SNP: :rs2796749(human) PMID:22496743|REF_RGD_ID:14390074 8737753 Piwil4 piwi like RNA-mediated gene silencing 4 gene DOID:1059 intellectual disability ISO RGD:1322245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8737753 Piwil4 piwi like RNA-mediated gene silencing 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1322245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8737753 Piwil4 piwi like RNA-mediated gene silencing 4 gene DOID:14228 oligospermia ISO RGD:1322245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20940137 8737753 Piwil4 piwi like RNA-mediated gene silencing 4 gene DOID:630 genetic disease ISO RGD:1322245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737802 Syt10 synaptotagmin 10 gene DOID:11832 visual epilepsy ISO RGD:62041 D RGD:9068941 20200609 RGD PMID:9122248|REF_RGD_ID:61761 8737802 Syt10 synaptotagmin 10 gene DOID:630 genetic disease ISO RGD:1346254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737826 Alas1 5'-aminolevulinate synthase 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:68572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8737826 Alas1 5'-aminolevulinate synthase 1 gene DOID:13268 porphyria ISO RGD:68392 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:7547054|REF_RGD_ID:4145274 8737826 Alas1 5'-aminolevulinate synthase 1 gene DOID:13268 porphyria ISO RGD:68572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9222176 8737826 Alas1 5'-aminolevulinate synthase 1 gene DOID:630 genetic disease ISO RGD:68572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737826 Alas1 5'-aminolevulinate synthase 1 gene DOID:6432 pulmonary hypertension ISO RGD:68392 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:16181105|REF_RGD_ID:4144185 8737826 Alas1 5'-aminolevulinate synthase 1 gene DOID:9000884 Rhabdomyolysis ISO RGD:68392 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:16846079|REF_RGD_ID:4144834 8737826 Alas1 5'-aminolevulinate synthase 1 gene DOID:9004484 Sepsis ISO RGD:68392 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum, jejunum, ileum (rat) PMID:12627002|REF_RGD_ID:4144178 8737826 Alas1 5'-aminolevulinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68392 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:6688350|REF_RGD_ID:4144808 8737845 Naa80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8737845 Naa80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8737845 Naa80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:630 genetic disease ISO RGD:1350941 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737845 Naa80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1350941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8737845 Naa80 N-alpha-acetyltransferase 80, NatH catalytic subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350941 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8737858 Slc35f3 solute carrier family 35 member F3 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1347980 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 8737858 Slc35f3 solute carrier family 35 member F3 gene DOID:1540 parathyroid carcinoma ISO RGD:1347980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8737858 Slc35f3 solute carrier family 35 member F3 gene DOID:630 genetic disease ISO RGD:1347980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8737858 Slc35f3 solute carrier family 35 member F3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8737875 Stn1 STN1 subunit of CST complex gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1313785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 8737875 Stn1 STN1 subunit of CST complex gene DOID:1909 melanoma ISO RGD:1313785 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs9420907|rs2995264 (human) PMID:25231748|REF_RGD_ID:152995261 8737875 Stn1 STN1 subunit of CST complex gene DOID:4001 ovarian carcinoma ISO RGD:1313785 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28346442 8737875 Stn1 STN1 subunit of CST complex gene DOID:630 genetic disease ISO RGD:1313785 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8737875 Stn1 STN1 subunit of CST complex gene DOID:9003025 Cerebroretinal Microangiopathy with Calcifications and Cysts ISO RGD:1313785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8737875 Stn1 STN1 subunit of CST complex gene DOID:9005172 Lung Neoplasms ISO RGD:1313785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 8737875 Stn1 STN1 subunit of CST complex gene DOID:9005983 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 ISO RGD:1313785 D RGD:7240710 20190315 OMIM 8737875 Stn1 STN1 subunit of CST complex gene DOID:9005983 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 ISO RGD:1313785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 PMID:25741868|PMID:27432940|PMID:28492532 8737893 C1galt1c1 C1GALT1 specific chaperone 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8737893 C1galt1c1 C1GALT1 specific chaperone 1 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1344219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8737893 C1galt1c1 C1GALT1 specific chaperone 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1344219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8737893 C1galt1c1 C1GALT1 specific chaperone 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1344219 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:36599939 8737893 C1galt1c1 C1GALT1 specific chaperone 1 gene DOID:0080520 Tn polyagglutination syndrome ISO RGD:1344219 D RGD:7240710 20180130 OMIM 8737893 C1galt1c1 C1GALT1 specific chaperone 1 gene DOID:0080520 Tn polyagglutination syndrome ISO RGD:1344219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GALACTOSYLTRANSFERASE DEFICIENCY PMID:16251947|PMID:18537974|PMID:25741868|PMID:28492532 8737893 C1galt1c1 C1GALT1 specific chaperone 1 gene DOID:12849 autistic disorder ISO RGD:1344219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8737893 C1galt1c1 C1GALT1 specific chaperone 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1344219 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Abnormal protein O-linked glycosylation PMID:25741868|PMID:37216524 8737893 C1galt1c1 C1GALT1 specific chaperone 1 gene DOID:630 genetic disease ISO RGD:1344219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8737893 C1galt1c1 C1GALT1 specific chaperone 1 gene DOID:9002623 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE ISO RGD:1344219 D RGD:7240710 20230830 OMIM 8737893 C1galt1c1 C1GALT1 specific chaperone 1 gene DOID:9002623 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE ISO RGD:1344219 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature PMID:25741868|PMID:36599939|PMID:37216524 8737909 LOC102004854 cytochrome b561 domain-containing protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31785789|PMID:9536098 8737909 LOC102004854 cytochrome b561 domain-containing protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31785789|PMID:9536098 8737909 LOC102004854 cytochrome b561 domain-containing protein 2 gene DOID:630 genetic disease ISO RGD:1353992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8737909 LOC102004854 cytochrome b561 domain-containing protein 2 gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:1353992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay PMID:25741868|PMID:28492532|PMID:29997391 8737941 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:0080490 mucolipidosis type IV ISO RGD:1322915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8737941 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1322915 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 8737941 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:10584 retinitis pigmentosa ISO RGD:1322915 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:28492532 8737941 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:630 genetic disease ISO RGD:1322915 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8737941 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:8501 fundus dystrophy ISO RGD:1322915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 8737941 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:9003675 Retinitis Pigmentosa 78 ISO RGD:1322915 D RGD:7240710 20190315 OMIM 8737941 Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 gene DOID:9003675 Retinitis Pigmentosa 78 ISO RGD:1322915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 78 PMID:16199547|PMID:25741868|PMID:28132693|PMID:28492532|PMID:32581362 8738033 Sgpl1 sphingosine-1-phosphate lyase 1 gene DOID:0080265 nephrotic syndrome type 14 ISO RGD:1347742 D RGD:7240710 20190315 OMIM 8738033 Sgpl1 sphingosine-1-phosphate lyase 1 gene DOID:0080265 nephrotic syndrome type 14 ISO RGD:1347742 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 14 PMID:23232022|PMID:24777844|PMID:25741868|PMID:28165339|PMID:28165343|PMID:28181337|PMID:28492532|PMID:29127259|PMID:30517686|PMID:31130284|PMID:32233035|PMID:32860008|PMID:33074640|PMID:36873630 8738033 Sgpl1 sphingosine-1-phosphate lyase 1 gene DOID:1184 nephrotic syndrome ISO RGD:1347742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23232022|PMID:25741868|PMID:28165339|PMID:28165343|PMID:28492532|PMID:29127259|PMID:30517686|PMID:31130284|PMID:32233035|PMID:32860008|PMID:33074640 8738033 Sgpl1 sphingosine-1-phosphate lyase 1 gene DOID:630 genetic disease ISO RGD:1347742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110377 retinitis pigmentosa 49 ISO RGD:732601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 49 PMID:23661369|PMID:24938718|PMID:25741868|PMID:28492532 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110402 retinitis pigmentosa 45 ISO RGD:732601 D RGD:7240710 20180130 OMIM 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0110402 retinitis pigmentosa 45 ISO RGD:732601 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 45 PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25412400|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:27989324|PMID:28005958|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29800053|PMID:29912909|PMID:30718709|PMID:31054281|PMID:31931872|PMID:31960602|PMID:31980526|PMID:32037395|PMID:32531858|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:34906470|PMID:36909829|PMID:9536098 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:30902645|PMID:32037395|PMID:33546218|PMID:9536098 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23661369|PMID:24043777|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:9536098 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23661369|PMID:24043777|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:11379879|PMID:15557452|PMID:16199547|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:9536098 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:31931872|PMID:32037395|PMID:32613137|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:34906470|PMID:9536098 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:31931872|PMID:32037395|PMID:32531858|PMID:32581362|PMID:32613137|PMID:33394956|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:34906470|PMID:35743231|PMID:36909829|PMID:9536098 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732601 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11379879|PMID:15557452|PMID:16199547|PMID:17032466|PMID:17576681|PMID:21147909|PMID:21987686|PMID:22025579|PMID:23105016|PMID:23484092|PMID:23661369|PMID:24043777|PMID:24339724|PMID:24938718|PMID:25324289|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:27989324|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29597005|PMID:29912909|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31570810|PMID:31931872|PMID:32037395|PMID:32531858|PMID:32581362|PMID:32613137|PMID:33394956|PMID:33546218|PMID:33576794|PMID:33847019|PMID:33946315|PMID:34795310|PMID:34906470|PMID:35743231|PMID:36909829|PMID:9536098 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:630 genetic disease ISO RGD:732601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8738054 Cngb1 cyclic nucleotide gated channel subunit beta 1 gene DOID:8501 fundus dystrophy ISO RGD:732601 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15557452|PMID:16199547|PMID:21147909|PMID:21987686|PMID:23105016|PMID:24043777|PMID:25741868|PMID:25943428|PMID:25999674|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27874104|PMID:28041643|PMID:28056120|PMID:28492532|PMID:28559085|PMID:29202463|PMID:29912909|PMID:30718709|PMID:31456290|PMID:32531858|PMID:33465333|PMID:33576794|PMID:33847019|PMID:34906470 8738091 Atp6v1g1 ATPase H+ transporting V1 subunit G1 gene DOID:630 genetic disease ISO RGD:1320793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738102 Smtnl2 smoothelin like 2 gene DOID:630 genetic disease ISO RGD:1605229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738163 Fkrp fukutin related protein gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 PMID:25741868 8738163 Fkrp fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404|PMID:35239206|PMID:36522254 8738163 Fkrp fukutin related protein gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1314133 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:10838249|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:35239206|PMID:35741838|PMID:36522254|PMID:6368217 8738163 Fkrp fukutin related protein gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1314134 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 8738163 Fkrp fukutin related protein gene DOID:0050700 cardiomyopathy ISO RGD:1314133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:16368217|PMID:21816046|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:28492532 8738163 Fkrp fukutin related protein gene DOID:0050700 cardiomyopathy ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:11741828|PMID:16344347|PMID:16368217|PMID:17994539|PMID:18832576|PMID:21816046|PMID:22451200|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27884173|PMID:28492532|PMID:28688748 8738163 Fkrp fukutin related protein gene DOID:0080000 muscular disease ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31268217|PMID:32419263|PMID:32746448|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34440373|PMID:34653404|PMID:35239206 8738163 Fkrp fukutin related protein gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:10838249|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34440373|PMID:34653404|PMID:35239206 8738163 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:7240710 20180130 OMIM 8738163 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1314133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED PMID:10838249|PMID:11053680|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21296577|PMID:21816046|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:35239206|PMID:36522254 8738163 Fkrp fukutin related protein gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I treatment ISO RGD:1314133 D RGD:9068941 20200609 RGD PMID:25048216|REF_RGD_ID:11667961 8738163 Fkrp fukutin related protein gene DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 ISO RGD:1314133 D RGD:7240710 20180130 OMIM 8738163 Fkrp fukutin related protein gene DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 ISO RGD:1314133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5 PMID:11053680|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18752264|PMID:18832576|PMID:19244252|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19955119|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21296577|PMID:21816046|PMID:22264518|PMID:22451200|PMID:22981120|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:29858056|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404|PMID:35239206|PMID:36522254 8738163 Fkrp fukutin related protein gene DOID:0110644 long QT syndrome 1 ISO RGD:1314133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 8738163 Fkrp fukutin related protein gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:1314133 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:29571322 8738163 Fkrp fukutin related protein gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1314133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32429923|PMID:32746448|PMID:33051673|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404|PMID:35239206|PMID:36522254 8738163 Fkrp fukutin related protein gene DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ISO RGD:1314133 D RGD:7240710 20180130 OMIM 8738163 Fkrp fukutin related protein gene DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ISO RGD:1314133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17336067|PMID:17351538|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21296577|PMID:21816046|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32429923|PMID:32746448|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404|PMID:35239206|PMID:36522254 8738163 Fkrp fukutin related protein gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1314133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:10838249|PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:32419263|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11741828|PMID:16344347|PMID:16368217|PMID:17994539|PMID:18832576|PMID:21816046|PMID:22451200|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27884173|PMID:28492532|PMID:28688748 8738163 Fkrp fukutin related protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1314133 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11741828|PMID:16344347|PMID:17994539|PMID:18832576|PMID:22451200|PMID:25741868|PMID:27884173|PMID:28492532|PMID:28688748 8738163 Fkrp fukutin related protein gene DOID:423 myopathy ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:630 genetic disease ISO RGD:1314133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8738163 Fkrp fukutin related protein gene DOID:9000053 Headache ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Headache PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:9000590 Dyspnea ISO RGD:1314133 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:29571322 8738163 Fkrp fukutin related protein gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:1314134 D RGD:9068941 20200609 RGD PMID:21224063|REF_RGD_ID:11667970 8738163 Fkrp fukutin related protein gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:1314134 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P448L (1343C>T) (mouse) PMID:20675713|REF_RGD_ID:11667960 8738163 Fkrp fukutin related protein gene DOID:9003242 Paresthesia ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Paresthesia PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:9005532 Muscle Weakness ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:9006181 Congenital Muscular Dystrophy with Central Nervous System Involvement ISO RGD:1314133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement PMID:25741868 8738163 Fkrp fukutin related protein gene DOID:9007114 Mobility Limitation ISO RGD:1314133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:11741828|PMID:12666124|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31268217|PMID:34008892|PMID:34653404 8738163 Fkrp fukutin related protein gene DOID:9884 muscular dystrophy ISO RGD:1314133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17336067|PMID:25741868|PMID:28492532|PMID:29065428|PMID:31041397|PMID:31671740|PMID:31931849|PMID:34653404 8738170 Cabcoco1 ciliary associated calcium binding coiled-coil 1 gene DOID:9005369 Hepatomegaly ISO RGD:1315529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8738183 Ndufb2 NADH:ubiquinone oxidoreductase subunit B2 gene DOID:0080690 RASopathy ISO RGD:1317724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8738183 Ndufb2 NADH:ubiquinone oxidoreductase subunit B2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8738183 Ndufb2 NADH:ubiquinone oxidoreductase subunit B2 gene DOID:630 genetic disease ISO RGD:1317724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738192 Pals2 protein associated with LIN7 2, MAGUK p55 family member gene DOID:0080600 COVID-19 ISO RGD:1323497 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8738192 Pals2 protein associated with LIN7 2, MAGUK p55 family member gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8738192 Pals2 protein associated with LIN7 2, MAGUK p55 family member gene DOID:630 genetic disease ISO RGD:1323497 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:0050454 periventricular nodular heterotopia ISO RGD:736195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:0050476 Barth syndrome ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:0070338 cerebellar hypoplasia ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:0112003 immunodeficiency 33 ISO RGD:736195 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:10588 adrenoleukodystrophy ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:1059 intellectual disability ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23092983|PMID:25741868 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:12849 autistic disorder ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:21681106|PMID:21865298|PMID:22566635|PMID:23092983|PMID:25741868|PMID:30208311 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:12849 autistic disorder susceptibility ISO RGD:736195 D RGD:7240710 20190502 OMIM 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:5419 schizophrenia ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:607 paraplegia ISO RGD:736195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:630 genetic disease ISO RGD:736195 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:736195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 8738210 Tmlhe trimethyllysine hydroxylase, epsilon gene DOID:9002720 Splenomegaly ISO RGD:736195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8738223 Gna14 G protein subunit alpha 14 gene DOID:0050766 choreaacanthocytosis ISO RGD:1317712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chorea-acanthocytosis PMID:15918062 8738223 Gna14 G protein subunit alpha 14 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1317712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 8738223 Gna14 G protein subunit alpha 14 gene DOID:630 genetic disease ISO RGD:1317712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738223 Gna14 G protein subunit alpha 14 gene DOID:9001384 Kaposiform Hemangioendothelioma ISO RGD:1317712 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Kaposiform hemangioendothelioma PMID:25741868|PMID:27476652 8738223 Gna14 G protein subunit alpha 14 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8738223 Gna14 G protein subunit alpha 14 gene DOID:9002189 High Myopia ISO RGD:1317712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8738223 Gna14 G protein subunit alpha 14 gene DOID:9002640 CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME ISO RGD:1317712 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome 8738223 Gna14 G protein subunit alpha 14 gene DOID:9004090 Tufted Angioma ISO RGD:1317712 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Tufted angioma PMID:25741868 8738250 Lsmem2 leucine rich single-pass membrane protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8738250 Lsmem2 leucine rich single-pass membrane protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8738250 Lsmem2 leucine rich single-pass membrane protein 2 gene DOID:630 genetic disease ISO RGD:1602071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738250 Lsmem2 leucine rich single-pass membrane protein 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8738250 Lsmem2 leucine rich single-pass membrane protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602071 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:10763 hypertension ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23499735|REF_RGD_ID:11561939 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347480 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:25209900|REF_RGD_ID:11558015 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:1596 depressive disorder treatment ISO RGD:1332294 D RGD:9068941 20200609 RGD PMID:25386878|REF_RGD_ID:11561930 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:1686 glaucoma ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve PMID:24136224|REF_RGD_ID:13782046 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:224 transient cerebral ischemia treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:22509406|REF_RGD_ID:11561910 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:2843 long QT syndrome ISO RGD:1347480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:3068 glioblastoma treatment ISO RGD:1347480 D RGD:9068941 20200609 RGD PMID:24905460|REF_RGD_ID:11561946 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:326 ischemia ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:25435100|REF_RGD_ID:11561945 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1332294 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:23851366|REF_RGD_ID:11561951 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:5082 liver cirrhosis ISO RGD:1347480 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:22895779|REF_RGD_ID:11561934 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:5327 retinal detachment ISO RGD:1332294 D RGD:9068941 20200609 RGD PMID:26093278|REF_RGD_ID:11561987 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:5327 retinal detachment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:26093278|REF_RGD_ID:11561987 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:5844 myocardial infarction treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:20079142|REF_RGD_ID:11561913 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:630 genetic disease ISO RGD:1347480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:90 degenerative disc disease ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:intervertebral disc PMID:22835012|REF_RGD_ID:11561942 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24559459|REF_RGD_ID:11561918 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23637053|REF_RGD_ID:11564330 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23852559|REF_RGD_ID:11561922 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24990154|REF_RGD_ID:11561988 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9000998 Brain Injuries ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24221859|REF_RGD_ID:11558018 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9002211 Hyperalgesia ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23665054|REF_RGD_ID:11560531 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23884876|REF_RGD_ID:11561935 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9002955 Nerve Degeneration ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:lumbar spinal cord ventral horn PMID:21436843|REF_RGD_ID:5685686 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:25919564|REF_RGD_ID:11558017 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9003936 Cardiomegaly treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24998254|REF_RGD_ID:11561938 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:23589102|REF_RGD_ID:11561955 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1332294 D RGD:9068941 20200609 RGD PMID:20075199|REF_RGD_ID:11561916 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:26412257|REF_RGD_ID:11561958 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:735183 D RGD:9068941 20200609 RGD protein:increased expression:cartilage tissue PMID:23386193|REF_RGD_ID:10041017 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1332294 D RGD:9068941 20200609 RGD PMID:22850625|REF_RGD_ID:11560530 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9007730 Burns ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:24730400|REF_RGD_ID:11561936 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1332294 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:20812860|REF_RGD_ID:11561944 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:20821058|REF_RGD_ID:11561911 8738258 Map1lc3a microtubule associated protein 1 light chain 3 alpha gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:735183 D RGD:9068941 20200609 RGD PMID:21820301|REF_RGD_ID:11561956 8738264 Rnf39 ring finger protein 39 gene DOID:11372 megacolon ISO RGD:1604283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8738264 Rnf39 ring finger protein 39 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1604283 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 8738264 Rnf39 ring finger protein 39 gene DOID:630 genetic disease ISO RGD:1604283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738264 Rnf39 ring finger protein 39 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8738284 Cdh23 cadherin related 23 gene DOID:0050439 Usher syndrome ISO RGD:733851 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23794683|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26681316|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27627659|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28902392|PMID:28912962|PMID:29048421|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31445392|PMID:32279305|PMID:32467589|PMID:32485727|PMID:32645618|PMID:32747562|PMID:32842620|PMID:32860223|PMID:32991204|PMID:33111992|PMID:33576794|PMID:34837038|PMID:34997822|PMID:35020051|PMID:35186827|PMID:35802133|PMID:36011334|PMID:36460718|PMID:36633841|PMID:36672845|PMID:9536098 8738284 Cdh23 cadherin related 23 gene DOID:0050563 nonsyndromic deafness ISO RGD:733851 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:15660226|PMID:16679490|PMID:17850630|PMID:18429043|PMID:19683999|PMID:21078986|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22443853|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24618850|PMID:24767429|PMID:25279224|PMID:25474345|PMID:25741868|PMID:25963016|PMID:26264712|PMID:26467025|PMID:26763877|PMID:26969326|PMID:27460420|PMID:27583405|PMID:27792758|PMID:28492532|PMID:29343940|PMID:30029624|PMID:30311386|PMID:30367262|PMID:30718709|PMID:32467589|PMID:32860223 8738284 Cdh23 cadherin related 23 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:733851 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:15353998|PMID:16199547|PMID:16679490|PMID:17407589|PMID:18429043|PMID:19683999|PMID:20513143|PMID:20613545|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22899989|PMID:23804846|PMID:24033266|PMID:24498627|PMID:25404053|PMID:25741868|PMID:25963016|PMID:27018795|PMID:27573290|PMID:27792758|PMID:28492532|PMID:29148562|PMID:30303587|PMID:31445392|PMID:32485727|PMID:32645618|PMID:32842620|PMID:35020051|PMID:8894709 8738284 Cdh23 cadherin related 23 gene DOID:0080046 Stickler syndrome ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:28492532|PMID:30311386 8738284 Cdh23 cadherin related 23 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:733851 D RGD:7240710 20180130 OMIM 8738284 Cdh23 cadherin related 23 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:733851 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:12910270|PMID:15353998|PMID:15537665|PMID:15660226|PMID:15829536|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21917145|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24006325|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26346818|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27627659|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29048421|PMID:29148562|PMID:29343940|PMID:29568747|PMID:29889784|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30622556|PMID:30718709|PMID:30733538|PMID:30828794|PMID:31054281|PMID:31152317|PMID:31445392|PMID:31541171|PMID:31850270|PMID:31872526|PMID:32238869|PMID:32467589|PMID:32747562|PMID:32842620|PMID:32860223|PMID:32991204|PMID:33576794|PMID:34416374|PMID:34824372|PMID:34906502|PMID:35020051|PMID:35186827|PMID:35440622|PMID:35802133|PMID:36633841|PMID:36672845|PMID:9536098 8738284 Cdh23 cadherin related 23 gene DOID:0110826 Usher syndrome type 1 ISO RGD:733851 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23767834|PMID:23794683|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25211151|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27610647|PMID:27627659|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31231422|PMID:31445392|PMID:32467589|PMID:32483926|PMID:32485727|PMID:32645618|PMID:32991204|PMID:33111992|PMID:33316915|PMID:33924653|PMID:34403091|PMID:34837038|PMID:35020051|PMID:35186827|PMID:35982127|PMID:36011334|PMID:9536098 8738284 Cdh23 cadherin related 23 gene DOID:0110827 Usher syndrome type 2 ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:25741868 8738284 Cdh23 cadherin related 23 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:733851 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:12075507|PMID:16963483|PMID:18429043|PMID:19683999|PMID:21174530|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22995991|PMID:23794683|PMID:24033266|PMID:25474345|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27018795|PMID:28492532|PMID:30029624|PMID:30033219|PMID:30459346|PMID:30718709|PMID:33576794 8738284 Cdh23 cadherin related 23 gene DOID:0110831 Usher syndrome type 1D ISO RGD:733851 D RGD:7240710 20180130 OMIM 8738284 Cdh23 cadherin related 23 gene DOID:0110831 Usher syndrome type 1D ISO RGD:733851 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23794683|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26346818|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26633542|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27610647|PMID:27627659|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28383030|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28912962|PMID:29048421|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30774966|PMID:30828794|PMID:31054281|PMID:31152317|PMID:31231422|PMID:31445392|PMID:31541171|PMID:31546658|PMID:31872526|PMID:32467589|PMID:32747562|PMID:32991204|PMID:33095980|PMID:33576794|PMID:34416374|PMID:34824372|PMID:34906502|PMID:35020051|PMID:35186827|PMID:36011334|PMID:36672845|PMID:9536098 8738284 Cdh23 cadherin related 23 gene DOID:0110838 Usher syndrome type 2A ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:12075507|PMID:12522556|PMID:15353998|PMID:21940737|PMID:24033266|PMID:25741868|PMID:2706105|PMID:27460420|PMID:28492532 8738284 Cdh23 cadherin related 23 gene DOID:0110961 atypical Gaucher's disease due to saposin C deficiency ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency PMID:25741868|PMID:28492532 8738284 Cdh23 cadherin related 23 gene DOID:0111330 combined saposin deficiency ISO RGD:733851 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:18429043|PMID:23794683|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 8738284 Cdh23 cadherin related 23 gene DOID:0112008 pituitary adenoma 5 ISO RGD:733851 D RGD:7240710 20190315 OMIM 8738284 Cdh23 cadherin related 23 gene DOID:0112008 pituitary adenoma 5 ISO RGD:733851 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:21174530|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22899989|PMID:22995991|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25211151|PMID:25231367|PMID:25279224|PMID:25333064|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:26226137|PMID:26264712|PMID:26346818|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27208204|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27583663|PMID:27627659|PMID:27743452|PMID:27792758|PMID:27884173|PMID:27957503|PMID:28383030|PMID:28413019|PMID:28483220|PMID:28492532|PMID:28501645|PMID:28847902|PMID:28944237|PMID:29048421|PMID:29148562|PMID:29287849|PMID:29889784|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30123251|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30622556|PMID:30718709|PMID:30828794|PMID:31054281|PMID:31152317|PMID:31231422|PMID:31445392|PMID:31541171|PMID:31546658|PMID:31589614|PMID:31755791|PMID:31850270|PMID:31872526|PMID:32141364|PMID:32467589|PMID:32485727|PMID:32645618|PMID:32747562|PMID:32860223|PMID:32991204|PMID:33095980|PMID:33111992|PMID:33576794|PMID:34416374|PMID:34824372|PMID:34837038|PMID:35020051|PMID:35186827|PMID:35440622|PMID:35802133|PMID:36011334|PMID:36460718|PMID:36633841|PMID:36672845|PMID:9536098 8738284 Cdh23 cadherin related 23 gene DOID:10003 sensorineural hearing loss ISO RGD:733851 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:22899989|PMID:25741868|PMID:25963016|PMID:28492532|PMID:30303587 8738284 Cdh23 cadherin related 23 gene DOID:10316 pneumoconiosis ISO RGD:733851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 8738284 Cdh23 cadherin related 23 gene DOID:10581 metachromatic leukodystrophy ISO RGD:733851 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:18429043|PMID:23794683|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 8738284 Cdh23 cadherin related 23 gene DOID:10584 retinitis pigmentosa ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18429043|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22995991|PMID:24033266|PMID:24416283|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30029624|PMID:30718709 8738284 Cdh23 cadherin related 23 gene DOID:10587 Krabbe disease ISO RGD:733851 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:18429043|PMID:23794683|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 8738284 Cdh23 cadherin related 23 gene DOID:1909 melanoma ISO RGD:733851 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8738284 Cdh23 cadherin related 23 gene DOID:3633 beta-mannosidosis ISO RGD:733851 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:25741868|PMID:28492532|PMID:30311386 8738284 Cdh23 cadherin related 23 gene DOID:5679 retinal disease ISO RGD:733852 D RGD:9068941 20200609 RGD PMID:14609561|REF_RGD_ID:8662280 8738284 Cdh23 cadherin related 23 gene DOID:630 genetic disease ISO RGD:733851 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11090341|PMID:11138009|PMID:12075507|PMID:16281288|PMID:17850630|PMID:18273900|PMID:18368581|PMID:18484607|PMID:20613545|PMID:21940737|PMID:24033266|PMID:24416283|PMID:25356970|PMID:25468891|PMID:25472526|PMID:25741868|PMID:26399936|PMID:26467025|PMID:26969326|PMID:27349180|PMID:27743452|PMID:28492532|PMID:28501645|PMID:29048421|PMID:29986705|PMID:30311386|PMID:32747562|PMID:32991204|PMID:34837038|PMID:35186827 8738284 Cdh23 cadherin related 23 gene DOID:8501 fundus dystrophy ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11138009|PMID:12075507|PMID:16199547|PMID:18273900|PMID:18429043|PMID:18484607|PMID:20613545|PMID:21940737|PMID:24033266|PMID:25211151|PMID:25468891|PMID:25472526|PMID:25741868|PMID:26399936|PMID:26467025|PMID:26969326|PMID:27208204|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31546658|PMID:32141364|PMID:32991204|PMID:35020051|PMID:35186827 8738284 Cdh23 cadherin related 23 gene DOID:9000307 Presbycusis ISO RGD:733852 D RGD:9068941 20200609 RGD PMID:12910270|REF_RGD_ID:737781 8738284 Cdh23 cadherin related 23 gene DOID:9000307 Presbycusis no_association ISO RGD:733851 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.72996763C>T (rs7087735) (human) PMID:22581638|REF_RGD_ID:8662287 8738284 Cdh23 cadherin related 23 gene DOID:9001061 Atypical Krabbe Disease due to Saposin A Deficiency ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency PMID:25741868|PMID:28492532 8738284 Cdh23 cadherin related 23 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:733851 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1227049, rs3802711 (human) PMID:16598924|REF_RGD_ID:8662283 8738284 Cdh23 cadherin related 23 gene DOID:9002910 Hearing Loss, Noise-Induced no_association ISO RGD:733851 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1227049, rs1227051 (human) PMID:16598924|REF_RGD_ID:8662283 8738284 Cdh23 cadherin related 23 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:733851 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:11090341|PMID:11138009|PMID:11857743|PMID:12075507|PMID:12522556|PMID:15353998|PMID:15537665|PMID:15660226|PMID:16281288|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:17850630|PMID:18273900|PMID:18323324|PMID:18348277|PMID:18368581|PMID:18429043|PMID:18484607|PMID:19375528|PMID:19683999|PMID:20146813|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21078986|PMID:21228398|PMID:21436283|PMID:21569298|PMID:21738395|PMID:21940737|PMID:22135276|PMID:22443853|PMID:22607986|PMID:2289998|PMID:22899989|PMID:22995991|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23757202|PMID:23794683|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24164807|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24767429|PMID:24875298|PMID:25231367|PMID:25262649|PMID:25279224|PMID:25356970|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25587757|PMID:25605338|PMID:25741868|PMID:25788563|PMID:25963016|PMID:25991456|PMID:26226137|PMID:26264712|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26763877|PMID:26969326|PMID:27018795|PMID:2706105|PMID:27068579|PMID:27349180|PMID:27460420|PMID:27583405|PMID:27627659|PMID:27743452|PMID:27792758|PMID:27884173|PMID:28483220|PMID:28492532|PMID:28847902|PMID:28912962|PMID:29148562|PMID:29343940|PMID:29986705|PMID:30029624|PMID:30033219|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30367262|PMID:30459346|PMID:30718709|PMID:30733538|PMID:31054281|PMID:31152317|PMID:31445392|PMID:32467589|PMID:32485727|PMID:32645618|PMID:32991204|PMID:33111992|PMID:34837038|PMID:35020051|PMID:35186827|PMID:36011334|PMID:9536098 8738284 Cdh23 cadherin related 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733851 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:12075507|PMID:16963483|PMID:19683999|PMID:21174530|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27018795|PMID:28492532|PMID:30033219|PMID:30459346|PMID:33576794 8738284 Cdh23 cadherin related 23 gene DOID:9004538 Hearing Loss ISO RGD:733851 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18429043|PMID:21117948|PMID:24033266|PMID:25404053|PMID:25741868|PMID:27068579|PMID:28492532|PMID:30245029|PMID:30311386 8738284 Cdh23 cadherin related 23 gene DOID:9004538 Hearing Loss ISO RGD:733851 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18429043|PMID:21117948|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:30245029|PMID:30311386|PMID:31445392|PMID:36672845 8738284 Cdh23 cadherin related 23 gene DOID:9004538 Hearing Loss ISO RGD:733851 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:11138009|PMID:18429043|PMID:21117948|PMID:21940737|PMID:23794683|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:30245029|PMID:30311386|PMID:31445392|PMID:33205915|PMID:36672845 8738284 Cdh23 cadherin related 23 gene DOID:9004615 Metachromatic Leukodystrophy due to Saposin B Deficiency ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency PMID:25741868|PMID:28492532 8738284 Cdh23 cadherin related 23 gene DOID:9006896 Usher Syndrome, Type ID/F ISO RGD:733851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC PMID:11138009|PMID:12075507|PMID:15537665|PMID:15660226|PMID:21940737|PMID:24033266|PMID:25741868|PMID:28492532 8738284 Cdh23 cadherin related 23 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:733851 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:18429043|PMID:21228398|PMID:21569298|PMID:22135276|PMID:22995991|PMID:24033266|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30029624|PMID:30718709 8738284 Cdh23 cadherin related 23 gene DOID:9008681 Deafness ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 8738284 Cdh23 cadherin related 23 gene DOID:9849 Meniere's disease ISO RGD:733851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 8738375 Arl5a ADP ribosylation factor like GTPase 5A gene DOID:0110928 nemaline myopathy 2 ISO RGD:1346010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25205138|PMID:28492532 8738375 Arl5a ADP ribosylation factor like GTPase 5A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8738375 Arl5a ADP ribosylation factor like GTPase 5A gene DOID:630 genetic disease ISO RGD:1346010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738388 Anks4b ankyrin repeat and sterile alpha motif domain containing 4B gene DOID:630 genetic disease ISO RGD:1606413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738394 Tmem18 transmembrane protein 18 gene DOID:630 genetic disease ISO RGD:1344776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738394 Tmem18 transmembrane protein 18 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8738394 Tmem18 transmembrane protein 18 gene DOID:9970 obesity ISO RGD:1344776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 8738402 Samd11 sterile alpha motif domain containing 11 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8738402 Samd11 sterile alpha motif domain containing 11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353453 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8738402 Samd11 sterile alpha motif domain containing 11 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8738402 Samd11 sterile alpha motif domain containing 11 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8738402 Samd11 sterile alpha motif domain containing 11 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8738402 Samd11 sterile alpha motif domain containing 11 gene DOID:10584 retinitis pigmentosa ISO RGD:1353453 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:34906470 8738402 Samd11 sterile alpha motif domain containing 11 gene DOID:630 genetic disease ISO RGD:1353453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8738402 Samd11 sterile alpha motif domain containing 11 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8738402 Samd11 sterile alpha motif domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8738402 Samd11 sterile alpha motif domain containing 11 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8738421 Resp18 regulated endocrine specific protein 18 gene DOID:0050855 renal fibrosis ISO RGD:3555 D RGD:9068941 20200609 RGD PMID:29570433|REF_RGD_ID:14348960 8738421 Resp18 regulated endocrine specific protein 18 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8738421 Resp18 regulated endocrine specific protein 18 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8738421 Resp18 regulated endocrine specific protein 18 gene DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 PMID:28492532 8738421 Resp18 regulated endocrine specific protein 18 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8738421 Resp18 regulated endocrine specific protein 18 gene DOID:10763 hypertension ISO RGD:3555 D RGD:9068941 20200609 RGD PMID:29570433|REF_RGD_ID:14348960 8738421 Resp18 regulated endocrine specific protein 18 gene DOID:1148 polydactyly ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8738421 Resp18 regulated endocrine specific protein 18 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8738421 Resp18 regulated endocrine specific protein 18 gene DOID:630 genetic disease ISO RGD:2305853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738421 Resp18 regulated endocrine specific protein 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2305853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8738436 Map3k4 mitogen-activated protein kinase kinase kinase 4 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1322520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8738436 Map3k4 mitogen-activated protein kinase kinase kinase 4 gene DOID:2154 nephroblastoma ISO RGD:1322520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8738436 Map3k4 mitogen-activated protein kinase kinase kinase 4 gene DOID:630 genetic disease ISO RGD:1322520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738436 Map3k4 mitogen-activated protein kinase kinase kinase 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 8738478 Hmgn4 high mobility group nucleosomal binding domain 4 gene DOID:630 genetic disease ISO RGD:1344098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738494 Adgrb2 adhesion G protein-coupled receptor B2 gene DOID:0080600 COVID-19 ISO RGD:1319770 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8738494 Adgrb2 adhesion G protein-coupled receptor B2 gene DOID:630 genetic disease ISO RGD:1319770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8738494 Adgrb2 adhesion G protein-coupled receptor B2 gene DOID:9002598 Spastic Paraparesis ISO RGD:1319770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive spastic paraparesis PMID:28891236 8738533 Blvrb biliverdin reductase B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8738533 Blvrb biliverdin reductase B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8738533 Blvrb biliverdin reductase B gene DOID:2340 craniosynostosis ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8738533 Blvrb biliverdin reductase B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8738533 Blvrb biliverdin reductase B gene DOID:630 genetic disease ISO RGD:1314490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738533 Blvrb biliverdin reductase B gene DOID:9000217 Stomach Neoplasms ISO RGD:1314490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 8738533 Blvrb biliverdin reductase B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8738533 Blvrb biliverdin reductase B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8738533 Blvrb biliverdin reductase B gene DOID:9269 maple syrup urine disease ISO RGD:1314490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8738551 Znf516-dt ZNF516 divergent transcript gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:7207006 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835 8738551 Znf516-dt ZNF516 divergent transcript gene DOID:6420 pulmonary valve stenosis ISO RGD:7207006 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8738558 Tex9 testis expressed 9 gene DOID:2717 Bloom syndrome ISO RGD:1606392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8738558 Tex9 testis expressed 9 gene DOID:630 genetic disease ISO RGD:1606392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738558 Tex9 testis expressed 9 gene DOID:9003544 Visceral Heterotaxy 9, Autosomal ISO RGD:1606392 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility | ClinVar Annotator: match by term: MNS1-related condition PMID:25741868|PMID:28492532|PMID:30148830|PMID:31534215 8738558 Tex9 testis expressed 9 gene DOID:9256 colorectal cancer ISO RGD:1606392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8738572 Vps9d1 VPS9 domain containing 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1352238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8738572 Vps9d1 VPS9 domain containing 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1352238 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8738572 Vps9d1 VPS9 domain containing 1 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1352238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 8738572 Vps9d1 VPS9 domain containing 1 gene DOID:13636 Fanconi anemia ISO RGD:1352238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8738572 Vps9d1 VPS9 domain containing 1 gene DOID:14780 KBG syndrome ISO RGD:1352238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 8738572 Vps9d1 VPS9 domain containing 1 gene DOID:630 genetic disease ISO RGD:1352238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738591 Gpr137 G protein-coupled receptor 137 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8738591 Gpr137 G protein-coupled receptor 137 gene DOID:1059 intellectual disability ISO RGD:1604608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8738591 Gpr137 G protein-coupled receptor 137 gene DOID:3070 high grade glioma ISO RGD:1604608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8738591 Gpr137 G protein-coupled receptor 137 gene DOID:630 genetic disease ISO RGD:1604608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738614 Tmem37 transmembrane protein 37 gene DOID:305 carcinoma ISO RGD:1606154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 8738614 Tmem37 transmembrane protein 37 gene DOID:630 genetic disease ISO RGD:1606154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738614 Tmem37 transmembrane protein 37 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1606154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 8738626 Arhgap26 Rho GTPase activating protein 26 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1322105 D RGD:7240710 20180130 OMIM 8738626 Arhgap26 Rho GTPase activating protein 26 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1322105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10908648 8738626 Arhgap26 Rho GTPase activating protein 26 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322105 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8738626 Arhgap26 Rho GTPase activating protein 26 gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1322105 D RGD:9068941 20200609 RGD juvenile myelomonocytic leukemia, OMIM:607785 translocation t(5;11)(q31;q23) fusing ARHGAP26 to MLL in one allele and point mutation A1255G/Asn417Ser or one of two insertions in second allele PMID:10908648|REF_RGD_ID:1599311 8738626 Arhgap26 Rho GTPase activating protein 26 gene DOID:630 genetic disease ISO RGD:1322105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738626 Arhgap26 Rho GTPase activating protein 26 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8738626 Arhgap26 Rho GTPase activating protein 26 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322105 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8738656 Drap1 DR1 associated protein 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1318268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8738656 Drap1 DR1 associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1318268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8738656 Drap1 DR1 associated protein 1 gene DOID:1909 melanoma ISO RGD:1318268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8738656 Drap1 DR1 associated protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8738656 Drap1 DR1 associated protein 1 gene DOID:2746 glycogen storage disease V ISO RGD:1318268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8738656 Drap1 DR1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1318268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738656 Drap1 DR1 associated protein 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8738656 Drap1 DR1 associated protein 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8738667 Mtmr4 myotubularin related protein 4 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1321134 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8738667 Mtmr4 myotubularin related protein 4 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1321134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 8738667 Mtmr4 myotubularin related protein 4 gene DOID:1790 malignant mesothelioma ISO RGD:1321134 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8738667 Mtmr4 myotubularin related protein 4 gene DOID:630 genetic disease ISO RGD:1321134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738667 Mtmr4 myotubularin related protein 4 gene DOID:767 muscular atrophy ISO RGD:1310306 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:19125695|REF_RGD_ID:7242174 8738700 Cela1 chymotrypsin like elastase 1 gene DOID:630 genetic disease ISO RGD:736392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738700 Cela1 chymotrypsin like elastase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8738700 Cela1 chymotrypsin like elastase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8738712 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:7240710 20180130 OMIM 8738712 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia PMID:10196363|PMID:11050011|PMID:11843825|PMID:17576681|PMID:22398176|PMID:25741868|PMID:28492532|PMID:4045952|PMID:9536098 8738712 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0050554 X-linked sideroblastic anemia with ataxia susceptibility ISO RGD:1351480 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.I400M (human) PMID:10196363|REF_RGD_ID:1598600 8738712 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8738712 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 8738712 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:12849 autistic disorder ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8738712 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:630 genetic disease ISO RGD:1351480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26242992 8738712 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:8955 sideroblastic anemia ISO RGD:1351480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16892088|PMID:18637800 8738712 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:8955 sideroblastic anemia ISO RGD:1351480 D RGD:9068941 20200609 RGD PMID:18398482|REF_RGD_ID:11038732 8738712 Abcb7 ATP binding cassette subfamily B member 7 gene DOID:9004866 Ataxia ISO RGD:1351480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16892088 8738750 Acd ACD shelterin complex subunit and telomerase recruitment factor gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1351362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 8738750 Acd ACD shelterin complex subunit and telomerase recruitment factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1351362 D RGD:7240710 20180130 OMIM 8738750 Acd ACD shelterin complex subunit and telomerase recruitment factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1351362 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ACD-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7 PMID:16199547|PMID:17576681|PMID:25205116|PMID:25233904|PMID:25505254|PMID:25741868|PMID:27807141|PMID:28492532|PMID:29843741|PMID:29891727|PMID:30064976|PMID:31515401|PMID:32191290|PMID:32325837|PMID:33822766|PMID:34598035|PMID:9536098 8738750 Acd ACD shelterin complex subunit and telomerase recruitment factor gene DOID:0111984 immunodeficiency 58 ISO RGD:1351362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency PMID:25741868 8738750 Acd ACD shelterin complex subunit and telomerase recruitment factor gene DOID:630 genetic disease ISO RGD:1351362 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:29843741|PMID:30064976|PMID:31515401|PMID:9536098 8738750 Acd ACD shelterin complex subunit and telomerase recruitment factor gene DOID:9008958 Autosomal Recessive Dyskeratosis Congenita 7 ISO RGD:1351362 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7 PMID:25205116|PMID:25233904|PMID:25741868|PMID:27807141|PMID:28492532|PMID:31515401|PMID:33822766 8738765 Txnl4a thioredoxin like 4A gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1347193 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8738765 Txnl4a thioredoxin like 4A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1347193 D RGD:7240710 20180130 OMIM 8738765 Txnl4a thioredoxin like 4A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1347193 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:1342861|PMID:14564154|PMID:16523509|PMID:25434003|PMID:25741868|PMID:26197979|PMID:28492532|PMID:34713892 8738765 Txnl4a thioredoxin like 4A gene DOID:630 genetic disease ISO RGD:1347193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738765 Txnl4a thioredoxin like 4A gene DOID:6420 pulmonary valve stenosis ISO RGD:1347193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8738765 Txnl4a thioredoxin like 4A gene DOID:8445 intestinal volvulus ISO RGD:1347193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8738765 Txnl4a thioredoxin like 4A gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1347193 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia PMID:1342861|PMID:14564154|PMID:16523509|PMID:25434003|PMID:25741868|PMID:26197979|PMID:28492532|PMID:34713892 8738765 Txnl4a thioredoxin like 4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8738765 Txnl4a thioredoxin like 4A gene DOID:9008419 Volvulus Of Midgut ISO RGD:1347193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8738783 Npnt nephronectin gene DOID:0080200 bilateral renal aplasia ISO RGD:1614982 D RGD:9068941 20220825 MouseDO 8738783 Npnt nephronectin gene DOID:630 genetic disease ISO RGD:1604498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738804 Igf1 insulin like growth factor 1 gene DOID:0050328 congenital hypothyroidism ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:1718729|REF_RGD_ID:12910128 8738804 Igf1 insulin like growth factor 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum (rat) PMID:16909201|REF_RGD_ID:12904886 8738804 Igf1 insulin like growth factor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16406300|REF_RGD_ID:1582623 8738804 Igf1 insulin like growth factor 1 gene DOID:0060180 colitis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24782617 8738804 Igf1 insulin like growth factor 1 gene DOID:0080038 pycnodysostosis ISO RGD:70506 D RGD:9068941 20200609 RGD associated with Dwarfism; PMID:11474477|REF_RGD_ID:8548826 8738804 Igf1 insulin like growth factor 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) PMID:24275070|REF_RGD_ID:12904726 8738804 Igf1 insulin like growth factor 1 gene DOID:0080539 PEHO syndrome ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid: PMID:11701291|REF_RGD_ID:8548849 8738804 Igf1 insulin like growth factor 1 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:19207313|REF_RGD_ID:12910858 8738804 Igf1 insulin like growth factor 1 gene DOID:0081120 Graves ophthalmopathy ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased excretion:orbital tissue: PMID:22159761|REF_RGD_ID:8548854 8738804 Igf1 insulin like growth factor 1 gene DOID:10124 corneal disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12824234 8738804 Igf1 insulin like growth factor 1 gene DOID:1059 intellectual disability ISO RGD:70506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8738804 Igf1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:10765 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus: PMID:23740209|REF_RGD_ID:10045852 8738804 Igf1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 8738804 Igf1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:70506 D RGD:9068941 20200609 RGD protein:altered expression:plasma,cerebral spinal fluid: PMID:24301648|REF_RGD_ID:10045853 8738804 Igf1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:10765 D RGD:9068941 20200609 RGD protein:altered expression:plasma,cerebral spinal fluid: PMID:24301648|REF_RGD_ID:10045853 8738804 Igf1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24054991|REF_RGD_ID:10045860 8738804 Igf1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:polymorphism:intron: rs972936(human) PMID:23089282|REF_RGD_ID:10045854 8738804 Igf1 insulin like growth factor 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:10399774|REF_RGD_ID:10402576 8738804 Igf1 insulin like growth factor 1 gene DOID:10763 hypertension ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:15996002|REF_RGD_ID:1580474 8738804 Igf1 insulin like growth factor 1 gene DOID:10763 hypertension ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:8418983|REF_RGD_ID:12904968 8738804 Igf1 insulin like growth factor 1 gene DOID:10763 hypertension ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19502719|PMID:22228705 8738804 Igf1 insulin like growth factor 1 gene DOID:10763 hypertension severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16431135|REF_RGD_ID:1598427 8738804 Igf1 insulin like growth factor 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:endothelial cell: PMID:12714661|REF_RGD_ID:10045893 8738804 Igf1 insulin like growth factor 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball: PMID:24106111|REF_RGD_ID:10045867 8738804 Igf1 insulin like growth factor 1 gene DOID:10907 microcephaly ISO RGD:70506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8738804 Igf1 insulin like growth factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19415693 8738804 Igf1 insulin like growth factor 1 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20013271|REF_RGD_ID:10755701 8738804 Igf1 insulin like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:10499542|REF_RGD_ID:10003127 8738804 Igf1 insulin like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:19424739|REF_RGD_ID:10003131 8738804 Igf1 insulin like growth factor 1 gene DOID:11476 osteoporosis ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:1466160|REF_RGD_ID:10003132 8738804 Igf1 insulin like growth factor 1 gene DOID:11476 osteoporosis treatment ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast PMID:17647196|REF_RGD_ID:10003128 8738804 Igf1 insulin like growth factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15653207|REF_RGD_ID:8549491 8738804 Igf1 insulin like growth factor 1 gene DOID:11830 myopia no_association ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:SNPS: :rs10860860, rs2946834,rs6214(human) PMID:21976954|REF_RGD_ID:8548829 8738804 Igf1 insulin like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: : rs12423791,rs5742629(human) PMID:22509095|REF_RGD_ID:8548838 8738804 Igf1 insulin like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:SNPS: :rs10860860, rs2946834,rs6214(human) PMID:20435602|REF_RGD_ID:8548828 8738804 Igf1 insulin like growth factor 1 gene DOID:11830 myopia susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:haplotype: :rs12423791,rs7956547,rs5742632(human) PMID:22332214|REF_RGD_ID:8548827 8738804 Igf1 insulin like growth factor 1 gene DOID:11984 hypertrophic cardiomyopathy severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:12135130|REF_RGD_ID:1598422 8738804 Igf1 insulin like growth factor 1 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity mucosa, blood vessel: PMID:2772560|REF_RGD_ID:8548880 8738804 Igf1 insulin like growth factor 1 gene DOID:12361 Graves' disease ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:thyroid gland: PMID:9857239|REF_RGD_ID:8548837 8738804 Igf1 insulin like growth factor 1 gene DOID:12689 acoustic neuroma susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833 8738804 Igf1 insulin like growth factor 1 gene DOID:12849 autistic disorder ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 8738804 Igf1 insulin like growth factor 1 gene DOID:12858 Huntington's disease ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:23384443|PMID:25140802|REF_RGD_ID:10045865|REF_RGD_ID:10045870 8738804 Igf1 insulin like growth factor 1 gene DOID:12858 Huntington's disease treatment ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:15371744|REF_RGD_ID:12904970 8738804 Igf1 insulin like growth factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:11934830|REF_RGD_ID:1598419 8738804 Igf1 insulin like growth factor 1 gene DOID:13025 retinopathy of prematurity ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:16500767|REF_RGD_ID:8548852 8738804 Igf1 insulin like growth factor 1 gene DOID:13025 retinopathy of prematurity ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:20085549|REF_RGD_ID:8548825 8738804 Igf1 insulin like growth factor 1 gene DOID:13025 retinopathy of prematurity no_association ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:20214047|REF_RGD_ID:8548867 8738804 Igf1 insulin like growth factor 1 gene DOID:13580 cholestasis ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:18607346|REF_RGD_ID:10046052 8738804 Igf1 insulin like growth factor 1 gene DOID:13580 cholestasis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12826230 8738804 Igf1 insulin like growth factor 1 gene DOID:14026 folic acid deficiency anemia ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum, cranial bone (rat) PMID:16111879|REF_RGD_ID:12910463 8738804 Igf1 insulin like growth factor 1 gene DOID:14183 alcoholic neuropathy ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:23016131|REF_RGD_ID:10402569 8738804 Igf1 insulin like growth factor 1 gene DOID:1459 hypothyroidism ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:1380443|REF_RGD_ID:12910458 8738804 Igf1 insulin like growth factor 1 gene DOID:1485 cystic fibrosis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:respiratory tract epithelium (rat) PMID:22461702|REF_RGD_ID:12904899 8738804 Igf1 insulin like growth factor 1 gene DOID:1596 depressive disorder ISO RGD:70506 D RGD:9068941 20240229 RGD associated with alcohol dependence;protein:increased expression:plasma PMID:26792039|REF_RGD_ID:401976547 8738804 Igf1 insulin like growth factor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:17584969|REF_RGD_ID:2315650 8738804 Igf1 insulin like growth factor 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19064563|REF_RGD_ID:2306689 8738804 Igf1 insulin like growth factor 1 gene DOID:224 transient cerebral ischemia severity ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:25098324|REF_RGD_ID:12904924 8738804 Igf1 insulin like growth factor 1 gene DOID:2316 brain ischemia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:16882007|REF_RGD_ID:1598411 8738804 Igf1 insulin like growth factor 1 gene DOID:2316 brain ischemia ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:19332057|REF_RGD_ID:2306694 8738804 Igf1 insulin like growth factor 1 gene DOID:2349 arteriosclerosis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15625284|REF_RGD_ID:2313768 8738804 Igf1 insulin like growth factor 1 gene DOID:2449 acromegaly ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1682667|PMID:18381583|PMID:18388193|PMID:9186818 8738804 Igf1 insulin like growth factor 1 gene DOID:289 endometriosis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8738804 Igf1 insulin like growth factor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8738804 Igf1 insulin like growth factor 1 gene DOID:2962 Cockayne syndrome ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:17326724|REF_RGD_ID:10003139 8738804 Igf1 insulin like growth factor 1 gene DOID:2987 familial mediterranean fever disease_progression ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:21428190|REF_RGD_ID:5508806 8738804 Igf1 insulin like growth factor 1 gene DOID:3021 acute kidney failure ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7540432 8738804 Igf1 insulin like growth factor 1 gene DOID:3070 high grade glioma severity ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833 8738804 Igf1 insulin like growth factor 1 gene DOID:3213 demyelinating disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9452187 8738804 Igf1 insulin like growth factor 1 gene DOID:3407 carotid artery disease ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16181175|REF_RGD_ID:1598446 8738804 Igf1 insulin like growth factor 1 gene DOID:3490 Noonan syndrome ISO RGD:10765 D RGD:9068941 20200609 RGD protein:decreased expression:serum (mouse) PMID:22371576|REF_RGD_ID:11352540 8738804 Igf1 insulin like growth factor 1 gene DOID:3490 Noonan syndrome treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16263833|REF_RGD_ID:11063837 8738804 Igf1 insulin like growth factor 1 gene DOID:3491 Turner syndrome ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased activity:serum: PMID:17067837|REF_RGD_ID:12743588 8738804 Igf1 insulin like growth factor 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 8738804 Igf1 insulin like growth factor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:20098680|REF_RGD_ID:2317639 8738804 Igf1 insulin like growth factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286697 8738804 Igf1 insulin like growth factor 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:11409163|REF_RGD_ID:12904929 8738804 Igf1 insulin like growth factor 1 gene DOID:3911 progeria treatment ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:20805469|REF_RGD_ID:10003141 8738804 Igf1 insulin like growth factor 1 gene DOID:4248 coronary stenosis ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:increased expression:myocyte: PMID:8102103|REF_RGD_ID:10046053 8738804 Igf1 insulin like growth factor 1 gene DOID:5154 borna disease ISO RGD:2868 D RGD:9068941 20240222 RGD mRNA:increased expression:hippocampus PMID:11175319|REF_RGD_ID:2325644 8738804 Igf1 insulin like growth factor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30594912 8738804 Igf1 insulin like growth factor 1 gene DOID:557 kidney disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8825380 8738804 Igf1 insulin like growth factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8866126|PMID:9452187 8738804 Igf1 insulin like growth factor 1 gene DOID:5844 myocardial infarction ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:19295919|REF_RGD_ID:2306696 8738804 Igf1 insulin like growth factor 1 gene DOID:5844 myocardial infarction severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16635594|REF_RGD_ID:1598421 8738804 Igf1 insulin like growth factor 1 gene DOID:6000 congestive heart failure ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:12835956|REF_RGD_ID:1598415 8738804 Igf1 insulin like growth factor 1 gene DOID:6039 uveal melanoma disease_progression ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:23197685|REF_RGD_ID:8548834 8738804 Igf1 insulin like growth factor 1 gene DOID:630 genetic disease ISO RGD:70506 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8738804 Igf1 insulin like growth factor 1 gene DOID:6543 acne ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:21054577|REF_RGD_ID:8549489 8738804 Igf1 insulin like growth factor 1 gene DOID:6543 acne ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:7608381|REF_RGD_ID:8549457 8738804 Igf1 insulin like growth factor 1 gene DOID:6543 acne no_association ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:9347796|REF_RGD_ID:8549499 8738804 Igf1 insulin like growth factor 1 gene DOID:657 adenoma ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1611713 8738804 Igf1 insulin like growth factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8738804 Igf1 insulin like growth factor 1 gene DOID:767 muscular atrophy ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18467435 8738804 Igf1 insulin like growth factor 1 gene DOID:783 end stage renal disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10198369 8738804 Igf1 insulin like growth factor 1 gene DOID:8398 osteoarthritis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:blood: PMID:2290165|REF_RGD_ID:10045857 8738804 Igf1 insulin like growth factor 1 gene DOID:850 lung disease ISO RGD:70506 D RGD:9068941 20231102 RGD mRNA:increased expression:lung (human) PMID:37731513|REF_RGD_ID:401851918 8738804 Igf1 insulin like growth factor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:19171036|REF_RGD_ID:2306713 8738804 Igf1 insulin like growth factor 1 gene DOID:8725 vascular dementia ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:22342912|REF_RGD_ID:10045864 8738804 Igf1 insulin like growth factor 1 gene DOID:8725 vascular dementia severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16181175|REF_RGD_ID:1598446 8738804 Igf1 insulin like growth factor 1 gene DOID:8778 Crohn's disease ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19751734 8738804 Igf1 insulin like growth factor 1 gene DOID:8893 psoriasis ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:21241374|REF_RGD_ID:8549492 8738804 Igf1 insulin like growth factor 1 gene DOID:8947 diabetic retinopathy ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17194636|REF_RGD_ID:2313764 8738804 Igf1 insulin like growth factor 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16873705|REF_RGD_ID:1598424 8738804 Igf1 insulin like growth factor 1 gene DOID:9000121 Malocclusion disease_progression ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:22758598|REF_RGD_ID:10045831 8738804 Igf1 insulin like growth factor 1 gene DOID:9000146 Plaque, Atherosclerotic treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:17916769|REF_RGD_ID:8548877 8738804 Igf1 insulin like growth factor 1 gene DOID:9000528 Coronary Disease ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:15521962|REF_RGD_ID:1626121 8738804 Igf1 insulin like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18398872 8738804 Igf1 insulin like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:19375852|REF_RGD_ID:2317643 8738804 Igf1 insulin like growth factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70506 D RGD:9068941 20200609 RGD associated with Uveal Melanoma;protein:increased expression:serum: PMID:23197685|REF_RGD_ID:8548834 8738804 Igf1 insulin like growth factor 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:9344566|REF_RGD_ID:12904928 8738804 Igf1 insulin like growth factor 1 gene DOID:9001472 Nasal Polyps ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity mucosa: PMID:18202785|REF_RGD_ID:8548875 8738804 Igf1 insulin like growth factor 1 gene DOID:9001542 Albuminuria susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16645019|REF_RGD_ID:1598420 8738804 Igf1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:12800242|REF_RGD_ID:10045984 8738804 Igf1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15591519|PMID:15745444 8738804 Igf1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16434425|REF_RGD_ID:2317647 8738804 Igf1 insulin like growth factor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:20198635|REF_RGD_ID:12904923 8738804 Igf1 insulin like growth factor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:10765 D RGD:9068941 20200609 RGD associated with Rhinosinusitis; mRNA:increased expression:nose: PMID:20713758|REF_RGD_ID:8548883 8738804 Igf1 insulin like growth factor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:21296499|REF_RGD_ID:8549452 8738804 Igf1 insulin like growth factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:serum (rat) PMID:10444029|REF_RGD_ID:12904967 8738804 Igf1 insulin like growth factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17194636|REF_RGD_ID:2313764 8738804 Igf1 insulin like growth factor 1 gene DOID:9002209 Skull Fractures ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:12002507|REF_RGD_ID:8548865 8738804 Igf1 insulin like growth factor 1 gene DOID:9002211 Hyperalgesia ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9452187 8738804 Igf1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19088829|REF_RGD_ID:2306715 8738804 Igf1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation onset ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:placenta labyrinth (rat) PMID:24239160|REF_RGD_ID:12904720 8738804 Igf1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:15506645|REF_RGD_ID:1600258 8738804 Igf1 insulin like growth factor 1 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:9284279|REF_RGD_ID:12910460 8738804 Igf1 insulin like growth factor 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1611713 8738804 Igf1 insulin like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11014614 8738804 Igf1 insulin like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21567076|REF_RGD_ID:6907380 8738804 Igf1 insulin like growth factor 1 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:8619365|REF_RGD_ID:10402812 8738804 Igf1 insulin like growth factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:2868 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:19171036|REF_RGD_ID:2306713 8738804 Igf1 insulin like growth factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16465378|PMID:19208208|PMID:24586243 8738804 Igf1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:9497937|REF_RGD_ID:10046057 8738804 Igf1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA:increased expression:meniscus: PMID:20633672|REF_RGD_ID:10045868 8738804 Igf1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:8461919|REF_RGD_ID:10045862 8738804 Igf1 insulin like growth factor 1 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:17133593|REF_RGD_ID:10003130 8738804 Igf1 insulin like growth factor 1 gene DOID:9002427 Fetal Macrosomia ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17113804|REF_RGD_ID:12743591 8738804 Igf1 insulin like growth factor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19246225|REF_RGD_ID:2306697 8738804 Igf1 insulin like growth factor 1 gene DOID:9002514 Neointima ISO RGD:70506 D RGD:9068941 20200609 RGD associated with Hypertension PMID:12791939|REF_RGD_ID:1580477 8738804 Igf1 insulin like growth factor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8738804 Igf1 insulin like growth factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:7541143|REF_RGD_ID:6483353 8738804 Igf1 insulin like growth factor 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:18344903|REF_RGD_ID:12910457 8738804 Igf1 insulin like growth factor 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16585854|REF_RGD_ID:8549455 8738804 Igf1 insulin like growth factor 1 gene DOID:9002916 Hyperphagia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:17567960|REF_RGD_ID:10046043 8738804 Igf1 insulin like growth factor 1 gene DOID:9002955 Nerve Degeneration ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10203697|PMID:9452187 8738804 Igf1 insulin like growth factor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8738804 Igf1 insulin like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:19766709|REF_RGD_ID:10046049 8738804 Igf1 insulin like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:23694759|REF_RGD_ID:12904932 8738804 Igf1 insulin like growth factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:11672597|REF_RGD_ID:8549456 8738804 Igf1 insulin like growth factor 1 gene DOID:9003817 Sudden Hearing Loss treatment ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:21108784|REF_RGD_ID:8548824 8738804 Igf1 insulin like growth factor 1 gene DOID:9003921 Zinc Deficiency ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20404036|REF_RGD_ID:12904966 8738804 Igf1 insulin like growth factor 1 gene DOID:9003936 Cardiomegaly ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10547078 8738804 Igf1 insulin like growth factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:16306169|REF_RGD_ID:1598442 8738804 Igf1 insulin like growth factor 1 gene DOID:9004091 Osteophytes ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Acromegaly PMID:10499542|REF_RGD_ID:10003127 8738804 Igf1 insulin like growth factor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24353828 8738804 Igf1 insulin like growth factor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:9135074|REF_RGD_ID:8549453 8738804 Igf1 insulin like growth factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18398872 8738804 Igf1 insulin like growth factor 1 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:11063288|REF_RGD_ID:10045861 8738804 Igf1 insulin like growth factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:23342276|REF_RGD_ID:8549490 8738804 Igf1 insulin like growth factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15217511|PMID:15528971|PMID:17584969 8738804 Igf1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10765 D RGD:9068941 20200609 RGD protein:decreased expression:oviduct PMID:18676006|REF_RGD_ID:2311502 8738804 Igf1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:corpus cavernosum: PMID:22133301|REF_RGD_ID:10046054 8738804 Igf1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum, serum PMID:19382144|REF_RGD_ID:2306671 8738804 Igf1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:20555424|REF_RGD_ID:4142788 8738804 Igf1 insulin like growth factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24632065 8738804 Igf1 insulin like growth factor 1 gene DOID:9005768 Thinness ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:10578024|REF_RGD_ID:10045866 8738804 Igf1 insulin like growth factor 1 gene DOID:9005873 Tongue Neoplasms ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:blood: PMID:8493451|REF_RGD_ID:8548876 8738804 Igf1 insulin like growth factor 1 gene DOID:9005930 Endotoxemia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 8738804 Igf1 insulin like growth factor 1 gene DOID:9005930 Endotoxemia ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, serum PMID:18492809|REF_RGD_ID:10402757 8738804 Igf1 insulin like growth factor 1 gene DOID:9005941 Rhinosinusitis ISO RGD:10765 D RGD:9068941 20200609 RGD mRNA:increased expression:nose: PMID:20713758|REF_RGD_ID:8548883 8738804 Igf1 insulin like growth factor 1 gene DOID:9006008 Closed Head Injuries ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:12002507|REF_RGD_ID:8548865 8738804 Igf1 insulin like growth factor 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:21037532|REF_RGD_ID:8549460 8738804 Igf1 insulin like growth factor 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:10090325|REF_RGD_ID:12904918 8738804 Igf1 insulin like growth factor 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:10765 D RGD:9068941 20200609 RGD protein:increased expression:serum,carotid artery: PMID:12490968|REF_RGD_ID:10046051 8738804 Igf1 insulin like growth factor 1 gene DOID:9006257 Growth Disorders ISO RGD:70506 D RGD:9068941 20200609 RGD IGF1 deficiency, OMIM:608747;DNA:deletion PMID:8857020|REF_RGD_ID:1624297 8738804 Igf1 insulin like growth factor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20064577 8738804 Igf1 insulin like growth factor 1 gene DOID:9006877 Insulin-Like Growth Factor I Deficiency ISO RGD:70506 D RGD:7240710 20180130 OMIM 8738804 Igf1 insulin like growth factor 1 gene DOID:9006877 Insulin-Like Growth Factor I Deficiency ISO RGD:70506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency PMID:14684690|PMID:15769976|PMID:18317720|PMID:19240240|PMID:21915365|PMID:22832530|PMID:24033266|PMID:24389050|PMID:24664114|PMID:25741868|PMID:28492532|PMID:30214071|PMID:8857020 8738804 Igf1 insulin like growth factor 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11375343 8738804 Igf1 insulin like growth factor 1 gene DOID:9007096 Stroke ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:15567334|REF_RGD_ID:1598413 8738804 Igf1 insulin like growth factor 1 gene DOID:9007096 Stroke severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16882751|REF_RGD_ID:1598423 8738804 Igf1 insulin like growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:16698918|REF_RGD_ID:1598426 8738804 Igf1 insulin like growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8738804 Igf1 insulin like growth factor 1 gene DOID:9007102 Myocardial Ischemia severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16793032|REF_RGD_ID:1598425 8738804 Igf1 insulin like growth factor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:16939403|REF_RGD_ID:10045848 8738804 Igf1 insulin like growth factor 1 gene DOID:9007181 Osteoporotic Fractures susceptibility ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:10752709|REF_RGD_ID:10045863 8738804 Igf1 insulin like growth factor 1 gene DOID:9007181 Osteoporotic Fractures treatment ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:11834155|REF_RGD_ID:10003137 8738804 Igf1 insulin like growth factor 1 gene DOID:9007284 Precocious Puberty ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21402727 8738804 Igf1 insulin like growth factor 1 gene DOID:9007346 Cachexia ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30782979 8738804 Igf1 insulin like growth factor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23639586|PMID:25226513 8738804 Igf1 insulin like growth factor 1 gene DOID:9007480 Hyperoxia severity ISO RGD:70506 D RGD:9068941 20200609 RGD human protein in a rat model PMID:17697625|REF_RGD_ID:12904925 8738804 Igf1 insulin like growth factor 1 gene DOID:9007661 Dwarfism ISO RGD:2868 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:20102388|REF_RGD_ID:12904931 8738804 Igf1 insulin like growth factor 1 gene DOID:9007661 Dwarfism ISO RGD:70506 D RGD:9068941 20200609 RGD DNA:nonsense mutation,haploinsufficiency :cds: PMID:20668042|REF_RGD_ID:8548823 8738804 Igf1 insulin like growth factor 1 gene DOID:9007730 Burns ISO RGD:2868 D RGD:9068941 20200609 RGD mRNA:altered expression:multiple PMID:10827012|REF_RGD_ID:12910869 8738804 Igf1 insulin like growth factor 1 gene DOID:9008212 Diabetic Foot ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:fibroblast of dermis,stratum basale of epidermis: PMID:10727985|REF_RGD_ID:8549356 8738804 Igf1 insulin like growth factor 1 gene DOID:9008681 Deafness ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:20661454|REF_RGD_ID:8549497 8738804 Igf1 insulin like growth factor 1 gene DOID:9008824 Sarcopenia ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:12919235|REF_RGD_ID:10045859 8738804 Igf1 insulin like growth factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520698|PMID:18398872 8738804 Igf1 insulin like growth factor 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10370016 8738804 Igf1 insulin like growth factor 1 gene DOID:9351 diabetes mellitus ISO RGD:70506 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:corpus cavernosum: PMID:22133301|REF_RGD_ID:10046054 8738804 Igf1 insulin like growth factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2868 D RGD:9068941 20200609 RGD PMID:18986336|REF_RGD_ID:2306690 8738804 Igf1 insulin like growth factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16005252|REF_RGD_ID:2313767 8738804 Igf1 insulin like growth factor 1 gene DOID:9521 Laron syndrome ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:21054577|REF_RGD_ID:8549489 8738804 Igf1 insulin like growth factor 1 gene DOID:9743 diabetic neuropathy ISO RGD:2868 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19264110|REF_RGD_ID:2306687 8738804 Igf1 insulin like growth factor 1 gene DOID:9743 diabetic neuropathy ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17194636|REF_RGD_ID:2313764 8738804 Igf1 insulin like growth factor 1 gene DOID:9743 diabetic neuropathy treatment ISO RGD:10765 D RGD:9068941 20200609 RGD PMID:18545223|REF_RGD_ID:8549454 8738804 Igf1 insulin like growth factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:70506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24632065 8738804 Igf1 insulin like growth factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:15356074|PMID:19156625|REF_RGD_ID:2306688|REF_RGD_ID:2313769 8738804 Igf1 insulin like growth factor 1 gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:70506 D RGD:9068941 20200609 RGD PMID:16887362|REF_RGD_ID:2313765 8738804 Igf1 insulin like growth factor 1 gene DOID:987 alopecia ISO RGD:70506 D RGD:9068941 20200609 RGD protein:decreased secretion:dermal papilla: PMID:24499417|REF_RGD_ID:8549500 8738804 Igf1 insulin like growth factor 1 gene DOID:987 alopecia ISO RGD:70506 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10827403|REF_RGD_ID:8549462 8738818 Otud4 OTU deubiquitinase 4 gene DOID:13938 amenorrhea ISO RGD:1603307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 8738818 Otud4 OTU deubiquitinase 4 gene DOID:630 genetic disease ISO RGD:1603307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738883 Unc5b unc-5 netrin receptor B gene DOID:0060041 autism spectrum disorder ISO RGD:736493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8738883 Unc5b unc-5 netrin receptor B gene DOID:630 genetic disease ISO RGD:736493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8738883 Unc5b unc-5 netrin receptor B gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:736493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29162556 8738928 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:12849 autistic disorder ISO RGD:733163 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:30504930|PMID:35907405 8738928 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:630 genetic disease ISO RGD:733163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738928 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:9004009 Reperfusion Injury ISO RGD:620768 D RGD:9068941 20200609 RGD PMID:12225880|REF_RGD_ID:2314400 8738928 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733163 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8738928 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:9006518 DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS ISO RGD:733163 D RGD:7240710 20221207 OMIM 8738928 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:9006518 DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS ISO RGD:733163 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders PMID:25741868|PMID:29758562|PMID:30504930|PMID:35907405 8738928 Adgrl1 adhesion G protein-coupled receptor L1 gene DOID:9008086 Developmental Disabilities ISO RGD:733163 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:35907405 8738962 Clip3 CAP-Gly domain containing linker protein 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8738962 Clip3 CAP-Gly domain containing linker protein 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8738962 Clip3 CAP-Gly domain containing linker protein 3 gene DOID:630 genetic disease ISO RGD:1603664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738993 Ifit5 interferon induced protein with tetratricopeptide repeats 5 gene DOID:14497 Wolman disease ISO RGD:1348146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 8738993 Ifit5 interferon induced protein with tetratricopeptide repeats 5 gene DOID:630 genetic disease ISO RGD:1348146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8738993 Ifit5 interferon induced protein with tetratricopeptide repeats 5 gene DOID:9001488 Human Influenza ISO RGD:1348146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8738998 Palm3 paralemmin 3 gene DOID:630 genetic disease ISO RGD:2803038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739011 Phf7 PHD finger protein 7 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1318527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8739011 Phf7 PHD finger protein 7 gene DOID:10003 sensorineural hearing loss ISO RGD:1318527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 8739011 Phf7 PHD finger protein 7 gene DOID:630 genetic disease ISO RGD:1318527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739026 Rbbp9 RB binding protein 9, serine hydrolase gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1349258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II PMID:28492532 8739026 Rbbp9 RB binding protein 9, serine hydrolase gene DOID:630 genetic disease ISO RGD:1349258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739035 Tut4 terminal uridylyl transferase 4 gene DOID:1612 breast cancer severity ISO RGD:1320865 D RGD:9068941 20200609 RGD in conjunction with E2f1 expression;mRNA:increased expression:breast (human PMID:21453498|REF_RGD_ID:11530014 8739035 Tut4 terminal uridylyl transferase 4 gene DOID:630 genetic disease ISO RGD:1320865 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739035 Tut4 terminal uridylyl transferase 4 gene DOID:916 liver benign neoplasm ISO RGD:1320865 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:24056962|REF_RGD_ID:11530012 8739080 Tmed4 transmembrane p24 trafficking protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8739080 Tmed4 transmembrane p24 trafficking protein 4 gene DOID:630 genetic disease ISO RGD:1352955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:734382 D RGD:7240710 20180130 OMIM 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:734382 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:17576681|PMID:18414213|PMID:18479385|PMID:20301348|PMID:23086396|PMID:23086397|PMID:24029078|PMID:24319675|PMID:24463883|PMID:24591078|PMID:25042079|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25590979|PMID:25741868|PMID:25985138|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26269628|PMID:26369628|PMID:26467025|PMID:26597493|PMID:26648591|PMID:26740507|PMID:26784557|PMID:26786403|PMID:26993267|PMID:27064559|PMID:27081515|PMID:27578169|PMID:27652284|PMID:27779742|PMID:28081520|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29186148|PMID:29196578|PMID:29358611|PMID:29390993|PMID:30112700|PMID:30182418|PMID:30185235|PMID:30804880|PMID:30868116|PMID:30903923|PMID:31208268|PMID:31216405|PMID:31388363|PMID:31532594|PMID:31618474|PMID:31875159|PMID:32086284|PMID:32139178|PMID:32167590|PMID:34114611|PMID:9536098 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:734382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:734382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:734382 D RGD:7240710 20180130 OMIM 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:734382 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 | ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy PMID:16025100|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18479385|PMID:19264732|PMID:19597493|PMID:19668216|PMID:20301348|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23086396|PMID:23086397|PMID:23386033|PMID:23934111|PMID:24029078|PMID:24120652|PMID:24319675|PMID:24463883|PMID:24591078|PMID:25042079|PMID:25132448|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25516202|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25963545|PMID:25985138|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26269628|PMID:26369628|PMID:26467025|PMID:26597493|PMID:26648591|PMID:26740507|PMID:26784557|PMID:26786403|PMID:26820064|PMID:26993267|PMID:27029629|PMID:27064559|PMID:27081515|PMID:27159321|PMID:27578169|PMID:27652284|PMID:27779742|PMID:27891178|PMID:28081520|PMID:28125082|PMID:28366665|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28973083|PMID:28987752|PMID:29037447|PMID:29100083|PMID:29186148|PMID:29196578|PMID:29196579|PMID:29314583|PMID:29358611|PMID:29390993|PMID:29422393|PMID:30112700|PMID:30182418|PMID:30185235|PMID:30804880|PMID:30868116|PMID:30903923|PMID:31208268|PMID:31388363|PMID:31532594|PMID:31560846|PMID:31618474|PMID:31872048|PMID:31875159|PMID:32086284|PMID:32167590|PMID:32613771|PMID:33650128|PMID:34114611|PMID:35571021|PMID:36117860|PMID:37177976|PMID:9536098 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0081097 Rafiq syndrome ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:734382 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:10908 hydrocephalus ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868|PMID:28492532 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:11832 visual epilepsy ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:17576681|PMID:18414213|PMID:25339316|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27029629|PMID:28488083|PMID:28492532|PMID:28554332|PMID:29100083|PMID:29358611|PMID:29422393|PMID:9536098 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:11832 visual epilepsy ISO RGD:734382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:18414213|PMID:25339316|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27029629|PMID:28488083|PMID:28492532|PMID:28554332|PMID:29358611|PMID:29422393|PMID:9536098 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:1826 epilepsy ISO RGD:734382 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:17576681|PMID:18414213|PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26648591|PMID:26740507|PMID:26786403|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29358611|PMID:29422393|PMID:30182418|PMID:9536098 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:1826 epilepsy ISO RGD:734382 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:18414213|PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26467025|PMID:26648591|PMID:26740507|PMID:26786403|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28987752|PMID:29100083|PMID:29358611|PMID:29422393|PMID:30182418|PMID:9536098 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:1826 epilepsy ISO RGD:734382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Epilepsy syndrome | ClinVar Annotator: match by term: Seizure PMID:23086396|PMID:23086397|PMID:24319675|PMID:24591078|PMID:25326635|PMID:25326637|PMID:25482562|PMID:25741868|PMID:26122718|PMID:26140313|PMID:26648591|PMID:26740507|PMID:26993267|PMID:27029629|PMID:27081515|PMID:27652284|PMID:28492532|PMID:28987752|PMID:29100083|PMID:30182418 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:2234 focal epilepsy ISO RGD:734382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29186148|PMID:34114611 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:3331 frontal lobe epilepsy ISO RGD:734382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23086396 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:3652 Leigh disease ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:5419 schizophrenia ISO RGD:734382 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:630 genetic disease ISO RGD:734382 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:23086397|PMID:24319675|PMID:25326635|PMID:25326637|PMID:25339316|PMID:25482562|PMID:25640679|PMID:25741868|PMID:26105150|PMID:26122718|PMID:26140313|PMID:26436452|PMID:26467025|PMID:26740507|PMID:26786403|PMID:27081515|PMID:27652284|PMID:28081520|PMID:28488083|PMID:28492532|PMID:28554332|PMID:28973083|PMID:28987752|PMID:29186148|PMID:29358611|PMID:29422393|PMID:30182418|PMID:31388363|PMID:34114611|PMID:9536098 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:734382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734382 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:29186148|PMID:34114611 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:734382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8739096 Kcnt1 potassium sodium-activated channel subfamily T member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:734382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23086397 8739138 Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:0112201 osteogenesis imperfecta type 21 ISO RGD:1312161 D RGD:7240710 20201223 OMIM 8739138 Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:0112201 osteogenesis imperfecta type 21 ISO RGD:1312161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 21 PMID:25741868|PMID:33053334|PMID:33964184 8739138 Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 gene DOID:630 genetic disease ISO RGD:1312161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739150 Il19 interleukin 19 gene DOID:0050589 inflammatory bowel disease ISO RGD:1315107 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:11121048|PMID:14657422|PMID:14657427|PMID:17576681|PMID:18550579|PMID:25741868|PMID:26193622|PMID:28492532|PMID:9536098 8739150 Il19 interleukin 19 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8739150 Il19 interleukin 19 gene DOID:0081267 graft-versus-host disease ISO RGD:1315107 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Graft-versus-host disease, resistance to | ClinVar Annotator: match by term: Graft-versus-host disease, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:18550579|PMID:25741868|PMID:28492532 8739150 Il19 interleukin 19 gene DOID:1024 leprosy ISO RGD:1315107 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:28492532 8739150 Il19 interleukin 19 gene DOID:12849 autistic disorder ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8739150 Il19 interleukin 19 gene DOID:14115 toxic shock syndrome ISO RGD:1315107 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18246602|REF_RGD_ID:5037232 8739150 Il19 interleukin 19 gene DOID:14115 toxic shock syndrome ISO RGD:1315108 D RGD:9068941 20200609 RGD PMID:18246602|REF_RGD_ID:5037232 8739150 Il19 interleukin 19 gene DOID:1540 parathyroid carcinoma ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8739150 Il19 interleukin 19 gene DOID:2841 asthma ISO RGD:1315107 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15557163|REF_RGD_ID:5037236 8739150 Il19 interleukin 19 gene DOID:2841 asthma ISO RGD:1315108 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, serum PMID:15557163|REF_RGD_ID:5037236 8739150 Il19 interleukin 19 gene DOID:3388 periodontal disease ISO RGD:1583546 D RGD:9068941 20200609 RGD mRNA:increased expression:B cell PMID:20618701|REF_RGD_ID:5024938 8739150 Il19 interleukin 19 gene DOID:4947 cholangiocarcinoma ISO RGD:1315107 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:11121048|PMID:14657422|PMID:14657427|PMID:18550579|PMID:28492532 8739150 Il19 interleukin 19 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315107 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:11121048|PMID:14657422|PMID:14657427|PMID:18550579|PMID:25741868|PMID:28492532 8739150 Il19 interleukin 19 gene DOID:630 genetic disease ISO RGD:1315107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8739150 Il19 interleukin 19 gene DOID:7148 rheumatoid arthritis ISO RGD:1315107 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis, progression of PMID:12847677|PMID:25741868|PMID:28492532 8739150 Il19 interleukin 19 gene DOID:784 chronic kidney disease ISO RGD:1315107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24714768 8739150 Il19 interleukin 19 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1315107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 8739150 Il19 interleukin 19 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315107 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8739150 Il19 interleukin 19 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8739150 Il19 interleukin 19 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1315107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 8739160 Map3k12 mitogen-activated protein kinase kinase kinase 12 gene DOID:630 genetic disease ISO RGD:737536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739160 Map3k12 mitogen-activated protein kinase kinase kinase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8739213 Med1 mediator complex subunit 1 gene DOID:10283 prostate cancer ISO RGD:1351174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8739213 Med1 mediator complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1351174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8739213 Med1 mediator complex subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1617613 D RGD:9068941 20200609 RGD PMID:27548259|REF_RGD_ID:13513972 8739213 Med1 mediator complex subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1617613 D RGD:9068941 20220825 MouseDO 8739213 Med1 mediator complex subunit 1 gene DOID:289 endometriosis ISO RGD:1351174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8739213 Med1 mediator complex subunit 1 gene DOID:6000 congestive heart failure ISO RGD:1617613 D RGD:9068941 20220825 MouseDO 8739213 Med1 mediator complex subunit 1 gene DOID:630 genetic disease ISO RGD:1351174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8739213 Med1 mediator complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1351174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20007298 8739213 Med1 mediator complex subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16109766 8739241 Hoxc11 homeobox C11 gene DOID:630 genetic disease ISO RGD:1313485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739241 Hoxc11 homeobox C11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8739247 Vip vasoactive intestinal peptide gene DOID:0060180 colitis ISO RGD:732375 D RGD:9068941 20200609 RGD associated with Gram-Negative Bacterial Infections PMID:19661153|REF_RGD_ID:5685605 8739247 Vip vasoactive intestinal peptide gene DOID:0080855 Parkinsonism ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:15808913|REF_RGD_ID:5685601 8739247 Vip vasoactive intestinal peptide gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 8739247 Vip vasoactive intestinal peptide gene DOID:1059 intellectual disability ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11357950 8739247 Vip vasoactive intestinal peptide gene DOID:11832 visual epilepsy ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:20369387|REF_RGD_ID:5685634 8739247 Vip vasoactive intestinal peptide gene DOID:12849 autistic disorder ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521630 8739247 Vip vasoactive intestinal peptide gene DOID:12894 Sjogren's syndrome ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:22059987|REF_RGD_ID:5685375 8739247 Vip vasoactive intestinal peptide gene DOID:13141 uveitis ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:19232006|REF_RGD_ID:4889998 8739247 Vip vasoactive intestinal peptide gene DOID:13406 pulmonary sarcoidosis ISO RGD:1348931 D RGD:9068941 20200609 RGD PMID:20442436|REF_RGD_ID:5685623 8739247 Vip vasoactive intestinal peptide gene DOID:14250 Down syndrome ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 8739247 Vip vasoactive intestinal peptide gene DOID:14250 Down syndrome ISO RGD:732375 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19037032|REF_RGD_ID:5685613 8739247 Vip vasoactive intestinal peptide gene DOID:14330 Parkinson's disease ISO RGD:1348931 D RGD:9068941 20200609 RGD PMID:19476518|REF_RGD_ID:5685606 8739247 Vip vasoactive intestinal peptide gene DOID:14557 primary pulmonary hypertension ISO RGD:732375 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 8739247 Vip vasoactive intestinal peptide gene DOID:1561 cognitive disorder ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8208360 8739247 Vip vasoactive intestinal peptide gene DOID:1574 alcohol use disorder susceptibility ISO RGD:1348931 D RGD:9068941 20240229 RGD DNA:SNPs, haplotype:: (rs3823082,rs688136) (human) PMID:20554694|REF_RGD_ID:401976551 8739247 Vip vasoactive intestinal peptide gene DOID:1875 impotence ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10233493 8739247 Vip vasoactive intestinal peptide gene DOID:2316 brain ischemia ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:18158987|REF_RGD_ID:5685617 8739247 Vip vasoactive intestinal peptide gene DOID:2841 asthma ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:21419198|REF_RGD_ID:5685381 8739247 Vip vasoactive intestinal peptide gene DOID:2841 asthma ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:16782752|REF_RGD_ID:5685620 8739247 Vip vasoactive intestinal peptide gene DOID:289 endometriosis ISO RGD:1348931 D RGD:9068941 20200609 RGD PMID:18928861|REF_RGD_ID:5685615 8739247 Vip vasoactive intestinal peptide gene DOID:365 bladder disease ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18299998 8739247 Vip vasoactive intestinal peptide gene DOID:4483 rhinitis ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12746121|PMID:14680090 8739247 Vip vasoactive intestinal peptide gene DOID:4677 keratitis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21666233|REF_RGD_ID:5685380 8739247 Vip vasoactive intestinal peptide gene DOID:630 genetic disease ISO RGD:1348931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739247 Vip vasoactive intestinal peptide gene DOID:6432 pulmonary hypertension ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:22140628|REF_RGD_ID:5685374 8739247 Vip vasoactive intestinal peptide gene DOID:6432 pulmonary hypertension ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:22140628|REF_RGD_ID:5685374 8739247 Vip vasoactive intestinal peptide gene DOID:7147 ankylosing spondylitis ISO RGD:1348931 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20340024|REF_RGD_ID:5685387 8739247 Vip vasoactive intestinal peptide gene DOID:824 periodontitis ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:19792856|REF_RGD_ID:5685624 8739247 Vip vasoactive intestinal peptide gene DOID:8577 ulcerative colitis severity ISO RGD:1348931 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:22143367|REF_RGD_ID:5685619 8739247 Vip vasoactive intestinal peptide gene DOID:9000197 Edema ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7508328 8739247 Vip vasoactive intestinal peptide gene DOID:9000641 Pain ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9920454 8739247 Vip vasoactive intestinal peptide gene DOID:9000722 Animal Hepatitis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:19222997|REF_RGD_ID:5685610 8739247 Vip vasoactive intestinal peptide gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15127121|PMID:15144609 8739247 Vip vasoactive intestinal peptide gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19189304 8739247 Vip vasoactive intestinal peptide gene DOID:9001048 Nociceptive Pain ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:19467283|REF_RGD_ID:5685608 8739247 Vip vasoactive intestinal peptide gene DOID:9002211 Hyperalgesia ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12787826 8739247 Vip vasoactive intestinal peptide gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19189304 8739247 Vip vasoactive intestinal peptide gene DOID:9002457 Experimental Arthritis ISO RGD:621647 D RGD:9068941 20200609 RGD PMID:19055696|REF_RGD_ID:5685612 8739247 Vip vasoactive intestinal peptide gene DOID:9002457 Experimental Arthritis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21998117|REF_RGD_ID:5685376 8739247 Vip vasoactive intestinal peptide gene DOID:9002554 Tachycardia ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3261545 8739247 Vip vasoactive intestinal peptide gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:20978211|REF_RGD_ID:5685386 8739247 Vip vasoactive intestinal peptide gene DOID:9004009 Reperfusion Injury ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21693218|REF_RGD_ID:5685379 8739247 Vip vasoactive intestinal peptide gene DOID:9004610 Acute Lung Injury ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8643465 8739247 Vip vasoactive intestinal peptide gene DOID:9004610 Acute Lung Injury ISO RGD:621647 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:20441697|REF_RGD_ID:4145303 8739247 Vip vasoactive intestinal peptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21129425|REF_RGD_ID:5685622 8739247 Vip vasoactive intestinal peptide gene DOID:9006024 Hypotension ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9881641 8739247 Vip vasoactive intestinal peptide gene DOID:9007402 Gliosis ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:21281617|REF_RGD_ID:5685382 8739247 Vip vasoactive intestinal peptide gene DOID:9007763 Flushing ISO RGD:1348931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10233493 8739247 Vip vasoactive intestinal peptide gene DOID:9008114 Helicobacter Infections ISO RGD:732375 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, stomach PMID:19906107|REF_RGD_ID:5685602 8739247 Vip vasoactive intestinal peptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:732375 D RGD:9068941 20200609 RGD PMID:20309012|REF_RGD_ID:5685388 8739258 Caap1 caspase activity and apoptosis inhibitor 1 gene DOID:630 genetic disease ISO RGD:1344567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739268 Man2c1 mannosidase alpha class 2C member 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 8739268 Man2c1 mannosidase alpha class 2C member 1 gene DOID:1826 epilepsy ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8739268 Man2c1 mannosidase alpha class 2C member 1 gene DOID:2717 Bloom syndrome ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8739268 Man2c1 mannosidase alpha class 2C member 1 gene DOID:5419 schizophrenia ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8739268 Man2c1 mannosidase alpha class 2C member 1 gene DOID:630 genetic disease ISO RGD:733679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739268 Man2c1 mannosidase alpha class 2C member 1 gene DOID:9001812 CONGENITAL DISORDER OF DEGLYCOSYLATION 2 ISO RGD:733679 D RGD:7240710 20220427 OMIM 8739268 Man2c1 mannosidase alpha class 2C member 1 gene DOID:9001812 CONGENITAL DISORDER OF DEGLYCOSYLATION 2 ISO RGD:733679 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 PMID:25741868|PMID:35045343 8739268 Man2c1 mannosidase alpha class 2C member 1 gene DOID:9006791 Hypogonadotropic Hypogonadism 27 without Anosmia ISO RGD:733679 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia 8739268 Man2c1 mannosidase alpha class 2C member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8739268 Man2c1 mannosidase alpha class 2C member 1 gene DOID:9256 colorectal cancer ISO RGD:733679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8739352 Wapl WAPL cohesin release factor gene DOID:11836 clubfoot ISO RGD:1319037 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 8739352 Wapl WAPL cohesin release factor gene DOID:630 genetic disease ISO RGD:1319037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739391 Zbtb3 zinc finger and BTB domain containing 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8739391 Zbtb3 zinc finger and BTB domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1353634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8739391 Zbtb3 zinc finger and BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1353634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739413 CUNH1orf87 chromosome unknown C1orf87 homolog gene DOID:1059 intellectual disability ISO RGD:1602983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8739413 CUNH1orf87 chromosome unknown C1orf87 homolog gene DOID:630 genetic disease ISO RGD:1602983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739427 Arhgap5 Rho GTPase activating protein 5 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1318315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 8739427 Arhgap5 Rho GTPase activating protein 5 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1318315 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 8739427 Arhgap5 Rho GTPase activating protein 5 gene DOID:630 genetic disease ISO RGD:1318315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739427 Arhgap5 Rho GTPase activating protein 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1318315 D RGD:9068941 20210430 RGD associated with nasopharynx carcinoma;mRNA, protein:increased expression: epithelium of nasopharynx PMID:25961434|REF_RGD_ID:11056278 8739427 Arhgap5 Rho GTPase activating protein 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1318315 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36914835 8739427 Arhgap5 Rho GTPase activating protein 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318315 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8739427 Arhgap5 Rho GTPase activating protein 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1308507 D RGD:9068941 20210430 RGD mRNA:increased expression:mammary gland PMID:10939588|REF_RGD_ID:2316183 8739427 Arhgap5 Rho GTPase activating protein 5 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1318316 D RGD:9068941 20210430 RGD PMID:19703301|REF_RGD_ID:126848766 8739427 Arhgap5 Rho GTPase activating protein 5 gene DOID:9007098 Pulmonary Atresia ISO RGD:1318315 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 8739427 Arhgap5 Rho GTPase activating protein 5 gene DOID:9009121 lung metastasis ISO RGD:1318316 D RGD:9068941 20210430 RGD associated with Mammary Neoplasms, Experimental PMID:20860838|REF_RGD_ID:126848767 8739441 Foxd4 forkhead box D4 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1346778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8739441 Foxd4 forkhead box D4 gene DOID:5419 schizophrenia ISO RGD:1346778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8739441 Foxd4 forkhead box D4 gene DOID:630 genetic disease ISO RGD:1346778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739446 Asf1b anti-silencing function 1B histone chaperone gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1312634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 8739446 Asf1b anti-silencing function 1B histone chaperone gene DOID:1612 breast cancer disease_progression ISO RGD:1312634 D RGD:9068941 20200609 RGD PMID:21179005|REF_RGD_ID:9586017 8739446 Asf1b anti-silencing function 1B histone chaperone gene DOID:630 genetic disease ISO RGD:1312634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739446 Asf1b anti-silencing function 1B histone chaperone gene DOID:684 hepatocellular carcinoma ISO RGD:1312634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8739454 Cxxc4 CXXC finger protein 4 gene DOID:630 genetic disease ISO RGD:1354389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739462 Pbx3 PBX homeobox 3 gene DOID:0111008 X-linked cone-rod dystrophy 1 ISO RGD:1316248 D RGD:8554872 20230523 ClinVar ClinVar Annotator: match by term: X-linked cone-rod dystrophy 8739462 Pbx3 PBX homeobox 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316248 D RGD:9068941 20220902 RGD RNA:increased expression:esophagus squamous epithelium (human) PMID:32449803|REF_RGD_ID:153345544 8739462 Pbx3 PBX homeobox 3 gene DOID:630 genetic disease ISO RGD:1316248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739462 Pbx3 PBX homeobox 3 gene DOID:9008565 Congenital Heart Defects, Multiple Types ISO RGD:1316248 D RGD:9068941 20221027 RGD DNA:missense mutation:CDS:pAla136Val (human) PMID:22426282|REF_RGD_ID:155630639 8739478 Pip4k2a phosphatidylinositol-5-phosphate 4-kinase type 2 alpha gene DOID:1909 melanoma ISO RGD:734348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8739478 Pip4k2a phosphatidylinositol-5-phosphate 4-kinase type 2 alpha gene DOID:630 genetic disease ISO RGD:734348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739493 Rbp5 retinol binding protein 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8739493 Rbp5 retinol binding protein 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8739493 Rbp5 retinol binding protein 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8739493 Rbp5 retinol binding protein 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8739493 Rbp5 retinol binding protein 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8739493 Rbp5 retinol binding protein 5 gene DOID:630 genetic disease ISO RGD:1344722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739493 Rbp5 retinol binding protein 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8739501 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732926 D RGD:9068941 20200609 RGD DNA:snp:intron:c.230-1933G>C (rs11657991) (human) PMID:20888579|REF_RGD_ID:11576292 8739501 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732927 D RGD:9068941 20200609 RGD mRNA:decreased expression:forebrain (mouse) PMID:25600067|REF_RGD_ID:11097581 8739501 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:732926 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, postsynaptic density (human) PMID:23537733|REF_RGD_ID:11576299 8739501 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:732926 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:19733838|PMID:24377651|PMID:27217152 8739501 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:732926 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:15303240|REF_RGD_ID:11576298 8739501 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:630 genetic disease ISO RGD:732926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739501 Baiap2 BAR/IMD domain containing adaptor protein 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:619814 D RGD:9068941 20200609 RGD protein:increased expression:glomerular visceral epithelial cell PMID:17569780|REF_RGD_ID:9684990 8739542 Cish cytokine inducible SH2 containing protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8739542 Cish cytokine inducible SH2 containing protein gene DOID:0060071 pre-malignant neoplasm ISO RGD:735426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 8739542 Cish cytokine inducible SH2 containing protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8739542 Cish cytokine inducible SH2 containing protein gene DOID:12365 malaria ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:20484391 8739542 Cish cytokine inducible SH2 containing protein gene DOID:12365 malaria susceptibility ISO RGD:735426 D RGD:7240710 20190502 OMIM 8739542 Cish cytokine inducible SH2 containing protein gene DOID:3042 allergic contact dermatitis ISO RGD:735426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8739542 Cish cytokine inducible SH2 containing protein gene DOID:399 tuberculosis ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberculosis, susceptibility to PMID:20484391 8739542 Cish cytokine inducible SH2 containing protein gene DOID:399 tuberculosis susceptibility ISO RGD:735426 D RGD:7240710 20190502 OMIM 8739542 Cish cytokine inducible SH2 containing protein gene DOID:630 genetic disease ISO RGD:735426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739542 Cish cytokine inducible SH2 containing protein gene DOID:9005036 Bacteremia ISO RGD:735426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 PMID:20484391 8739542 Cish cytokine inducible SH2 containing protein gene DOID:9005036 Bacteremia susceptibility ISO RGD:735426 D RGD:7240710 20190502 OMIM 8739549 Zc3h11a zinc finger CCCH-type containing 11A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8739549 Zc3h11a zinc finger CCCH-type containing 11A gene DOID:1540 parathyroid carcinoma ISO RGD:1605103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8739549 Zc3h11a zinc finger CCCH-type containing 11A gene DOID:630 genetic disease ISO RGD:1605103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739549 Zc3h11a zinc finger CCCH-type containing 11A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8739549 Zc3h11a zinc finger CCCH-type containing 11A gene DOID:9008939 Breast Neoplasms ISO RGD:1605103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038754 8739549 Zc3h11a zinc finger CCCH-type containing 11A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8739573 CUNH19orf81 chromosome unknown C19orf81 homolog gene DOID:630 genetic disease ISO RGD:5489342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739583 Myh7b myosin heavy chain 7B gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis 8739583 Myh7b myosin heavy chain 7B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 8739583 Myh7b myosin heavy chain 7B gene DOID:2843 long QT syndrome ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8739583 Myh7b myosin heavy chain 7B gene DOID:630 genetic disease ISO RGD:1317507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8739583 Myh7b myosin heavy chain 7B gene DOID:9006836 Contracture ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647|PMID:28492532 8739583 Myh7b myosin heavy chain 7B gene DOID:9007661 Dwarfism ISO RGD:1317507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8739637 Garin5a golgi associated RAB2 interactor 5A gene DOID:630 genetic disease ISO RGD:1604551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739637 Garin5a golgi associated RAB2 interactor 5A gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1604551 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures PMID:25741868|PMID:35684946 8739645 Mc4r melanocortin 4 receptor gene DOID:0050572 cone-rod dystrophy ISO RGD:733058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:10903341|PMID:12499395|PMID:12690102|PMID:16507637|PMID:16611215|PMID:18559663|PMID:23791567|PMID:25741868|PMID:25741869|PMID:30004997 8739645 Mc4r melanocortin 4 receptor gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:733058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868 8739645 Mc4r melanocortin 4 receptor gene DOID:0060842 isolated microphthalmia 3 ISO RGD:733058 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8739645 Mc4r melanocortin 4 receptor gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:735526 D RGD:9068941 20220825 MouseDO 8739645 Mc4r melanocortin 4 receptor gene DOID:0111988 immunodeficiency 12 ISO RGD:733058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8739645 Mc4r melanocortin 4 receptor gene DOID:11446 sciatic neuropathy ISO RGD:3057 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglia (rat) PMID:21985621|REF_RGD_ID:6484557 8739645 Mc4r melanocortin 4 receptor gene DOID:11981 morbid obesity ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807|PMID:29311635 8739645 Mc4r melanocortin 4 receptor gene DOID:11981 morbid obesity ISO RGD:733058 D RGD:9068941 20200609 RGD PMID:11443223|PMID:12588803|REF_RGD_ID:1600750|REF_RGD_ID:1600755 8739645 Mc4r melanocortin 4 receptor gene DOID:2018 hyperinsulinism ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23251400 8739645 Mc4r melanocortin 4 receptor gene DOID:5419 schizophrenia ISO RGD:733058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:10199800|PMID:10577903|PMID:12499395|PMID:12646665|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:29273807|PMID:29970488 8739645 Mc4r melanocortin 4 receptor gene DOID:630 genetic disease ISO RGD:733058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739645 Mc4r melanocortin 4 receptor gene DOID:9002211 Hyperalgesia ISO RGD:3057 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglia (rat) PMID:20081244|REF_RGD_ID:6484233 8739645 Mc4r melanocortin 4 receptor gene DOID:9002916 Hyperphagia ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23251400 8739645 Mc4r melanocortin 4 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:3057 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 8739645 Mc4r melanocortin 4 receptor gene DOID:9005930 Endotoxemia ISO RGD:3057 D RGD:9068941 20200609 RGD mRNA:increased expression:paraventricular nucleus (rat) PMID:21343543|REF_RGD_ID:6484214 8739645 Mc4r melanocortin 4 receptor gene DOID:9007001 Bradycardia ISO RGD:3057 D RGD:9068941 20200609 RGD PMID:24400148|REF_RGD_ID:13825242 8739645 Mc4r melanocortin 4 receptor gene DOID:9007346 Cachexia ISO RGD:735526 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:20371568|REF_RGD_ID:6484229 8739645 Mc4r melanocortin 4 receptor gene DOID:9007633 Body Weight ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 8739645 Mc4r melanocortin 4 receptor gene DOID:9007692 Insulin Resistance ISO RGD:3057 D RGD:9068941 20210611 RGD DNA:nonsense mutation:cds:p.K314X (rat) PMID:24400148|REF_RGD_ID:13825242 8739645 Mc4r melanocortin 4 receptor gene DOID:9007692 Insulin Resistance ISO RGD:3057 D RGD:9068941 20240201 RGD mRNA, protein:decreased expression:liver (rat) PMID:35945320|REF_RGD_ID:329951016 8739645 Mc4r melanocortin 4 receptor gene DOID:9007692 Insulin Resistance ISO RGD:733058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18454146 8739645 Mc4r melanocortin 4 receptor gene DOID:9008953 Binge-Eating Disorder ISO RGD:733058 D RGD:9068941 20200609 RGD PMID:12646666|REF_RGD_ID:1600752 8739645 Mc4r melanocortin 4 receptor gene DOID:9351 diabetes mellitus ISO RGD:733058 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10078568|PMID:10199800|PMID:10592235|PMID:10903341|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12970296|PMID:14764812|PMID:14973783|PMID:15037865|PMID:154889963|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16094248|PMID:16274851|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16752916|PMID:17286227|PMID:17306938|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17628007|PMID:17986382|PMID:18559663|PMID:19091795|PMID:19179454|PMID:20462274|PMID:22106157|PMID:22492873|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24611737|PMID:24890885|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26467025|PMID:27654141|PMID:28492532|PMID:29970488|PMID:31002796|PMID:9267995 8739645 Mc4r melanocortin 4 receptor gene DOID:9452 steatotic liver disease ISO RGD:735526 D RGD:9068941 20220825 MouseDO OMIM:228100 8739645 Mc4r melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:733058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28166811|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:9267995 8739645 Mc4r melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:733058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:9267995 8739645 Mc4r melanocortin 4 receptor gene DOID:9970 obesity ISO RGD:733058 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24426828|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:33761344|PMID:9267995 8739654 Naif1 nuclear apoptosis inducing factor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8739654 Naif1 nuclear apoptosis inducing factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8739654 Naif1 nuclear apoptosis inducing factor 1 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1348051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8739654 Naif1 nuclear apoptosis inducing factor 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1348051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8739654 Naif1 nuclear apoptosis inducing factor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8739654 Naif1 nuclear apoptosis inducing factor 1 gene DOID:630 genetic disease ISO RGD:1348051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:0050450 Gitelman syndrome ISO RGD:733325 D RGD:7240710 20180130 OMIM 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:0050450 Gitelman syndrome ISO RGD:733325 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia | ClinVar Annotator: match by term: SLC12A3-related condition PMID:10516289|PMID:10561140|PMID:10616841|PMID:10988270|PMID:11168953|PMID:11408395|PMID:11532083|PMID:11940055|PMID:12008755|PMID:12039972|PMID:12112667|PMID:12185467|PMID:12483017|PMID:12704198|PMID:12772080|PMID:12911530|PMID:14655226|PMID:14675033|PMID:14766743|PMID:15002785|PMID:15069170|PMID:15102966|PMID:15198479|PMID:15206555|PMID:15309683|PMID:15687331|PMID:15824853|PMID:15976513|PMID:16199547|PMID:16221718|PMID:16370563|PMID:16471174|PMID:16801039|PMID:16837915|PMID:16932456|PMID:16966826|PMID:17044667|PMID:17059986|PMID:17159356|PMID:17329572|PMID:17414160|PMID:17460608|PMID:17511264|PMID:17576681|PMID:17654016|PMID:17699451|PMID:17873326|PMID:17885550|PMID:18033047|PMID:18270262|PMID:18287808|PMID:18344243|PMID:18362449|PMID:18391953|PMID:18402569|PMID:18580052|PMID:19016647|PMID:19033254|PMID:19207868|PMID:19349556|PMID:19420906|PMID:19451210|PMID:19489442|PMID:19508680|PMID:19668106|PMID:20072789|PMID:20552229|PMID:20675610|PMID:20810575|PMID:20848653|PMID:20981092|PMID:21051746|PMID:21157372|PMID:21256383|PMID:21342329|PMID:21415153|PMID:21628937|PMID:21631963|PMID:21654754|PMID:21753071|PMID:21757836|PMID:22009145|PMID:22169961|PMID:22214629|PMID:22241817|PMID:22245519|PMID:22484642|PMID:22627394|PMID:22679066|PMID:22728489|PMID:22802996|PMID:22934535|PMID:22990302|PMID:23328711|PMID:23475471|PMID:23698802|PMID:23756661|PMID:23833262|PMID:24033266|PMID:24696311|PMID:24759409|PMID:24776766|PMID:24790334|PMID:24825090|PMID:24830959|PMID:25012174|PMID:25112827|PMID:25140267|PMID:25165177|PMID:25422309|PMID:25525159|PMID:25741868|PMID:25741907|PMID:25815233|PMID:25838649|PMID:25841442|PMID:25852896|PMID:25990047|PMID:26041598|PMID:26121437|PMID:26221292|PMID:26260218|PMID:26306968|PMID:26467025|PMID:26484179|PMID:26633545|PMID:26770037|PMID:26825084|PMID:26830254|PMID:26921350|PMID:26990548|PMID:27007659|PMID:27173320|PMID:27216017|PMID:27303630|PMID:27386324|PMID:27453715|PMID:27454426|PMID:27582097|PMID:27784896|PMID:27872838|PMID:28125972|PMID:28251383|PMID:28325561|PMID:28469853|PMID:28492532|PMID:28700713|PMID:28947054|PMID:29378538|PMID:29398133|PMID:29403282|PMID:29925901|PMID:29942493|PMID:29953267|PMID:30084681|PMID:30136149|PMID:30138938|PMID:30413979|PMID:30586318|PMID:30596175|PMID:31183353|PMID:31285285|PMID:31363482|PMID:31398183|PMID:31672324|PMID:32129221|PMID:32221616|PMID:32528714|PMID:32542819|PMID:32860008|PMID:33095447|PMID:33121425|PMID:33226606|PMID:33348466|PMID:33532864|PMID:33763274|PMID:33807568|PMID:33996672|PMID:34046503|PMID:34657521|PMID:34746741|PMID:34805638|PMID:35509038|PMID:35628451|PMID:36806220|PMID:8528245|PMID:8812482|PMID:8865231|PMID:8900229|PMID:8954067|PMID:9536098|PMID:9596079|PMID:9734597 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:10763 hypertension ISO RGD:733325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480177 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:10825 essential hypertension ISO RGD:733325 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R904Q (human) PMID:15480096|REF_RGD_ID:1580589 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:10825 essential hypertension severity ISO RGD:733325 D RGD:9068941 20200609 RGD DNA:snp:intron:g.1784C>T (human) PMID:15824464|REF_RGD_ID:1580586 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:178 vascular disease ISO RGD:733325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348737 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:557 kidney disease ISO RGD:733325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21865292 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:630 genetic disease ISO RGD:733325 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11168953|PMID:12039972|PMID:12483017|PMID:14655226|PMID:15002785|PMID:15102966|PMID:15206555|PMID:16199547|PMID:16801039|PMID:17059986|PMID:17159356|PMID:17329572|PMID:17654016|PMID:18033047|PMID:18391953|PMID:19016647|PMID:19451210|PMID:19508680|PMID:20848653|PMID:21415153|PMID:21631963|PMID:21753071|PMID:22009145|PMID:22214629|PMID:22934535|PMID:23328711|PMID:24033266|PMID:24790334|PMID:25422309|PMID:25741868|PMID:25841442|PMID:26467025|PMID:26484179|PMID:26633545|PMID:27303630|PMID:27582097|PMID:28492532|PMID:29925901|PMID:29942493|PMID:30138938|PMID:30586318|PMID:30596175|PMID:31285285|PMID:31672324|PMID:33095447|PMID:34746741|PMID:34805638|PMID:35628451|PMID:8528245 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3686 D RGD:9068941 20200609 RGD protein:altered expression:kidney (rat) PMID:15956070|REF_RGD_ID:1580587 8739661 Slc12a3 solute carrier family 12 member 3 gene DOID:9005532 Muscle Weakness ISO RGD:733325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:10988270|PMID:12039972|PMID:17329572|PMID:17654016|PMID:18391953|PMID:21415153|PMID:22009145|PMID:23328711|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26921350|PMID:28492532|PMID:31672324|PMID:8528245|PMID:9734597 8739702 Fbln5 fibulin 5 gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:736145 D RGD:7240710 20180130 OMIM 8739702 Fbln5 fibulin 5 gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:736145 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive cutis laxa type IA | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A PMID:12189163|PMID:16374472|PMID:16652333|PMID:16691202|PMID:17035250|PMID:18185537|PMID:20007835|PMID:20599547|PMID:21576112|PMID:22829427|PMID:24033266|PMID:24962763|PMID:25741868|PMID:28492532|PMID:29653220|PMID:3232707|PMID:32802946 8739702 Fbln5 fibulin 5 gene DOID:0070136 autosomal dominant cutis laxa 2 ISO RGD:736145 D RGD:7240710 20180130 OMIM 8739702 Fbln5 fibulin 5 gene DOID:0070136 autosomal dominant cutis laxa 2 ISO RGD:736145 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 2 PMID:12618961|PMID:21576112|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29653220|PMID:32802946 8739702 Fbln5 fibulin 5 gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:736145 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant PMID:12189163|PMID:16374472|PMID:16652333|PMID:16691202|PMID:17035250|PMID:18185537|PMID:19194475|PMID:20007835|PMID:20599547|PMID:21152794|PMID:21576112|PMID:22829427|PMID:24962763|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28765615|PMID:31395654|PMID:3232707 8739702 Fbln5 fibulin 5 gene DOID:0080054 achondrogenesis type IA ISO RGD:736145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8739702 Fbln5 fibulin 5 gene DOID:10871 age related macular degeneration ISO RGD:736145 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration PMID:15269314|PMID:16652333|PMID:20007835|PMID:20599547|PMID:21576112|PMID:25741868|PMID:28492532 8739702 Fbln5 fibulin 5 gene DOID:11162 respiratory failure ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 8739702 Fbln5 fibulin 5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8739702 Fbln5 fibulin 5 gene DOID:12377 spinal muscular atrophy ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal spinal muscular atrophy 8739702 Fbln5 fibulin 5 gene DOID:178 vascular disease ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 8739702 Fbln5 fibulin 5 gene DOID:2349 arteriosclerosis ISO RGD:736146 D RGD:9068941 20200609 RGD PMID:10428823|REF_RGD_ID:69830 8739702 Fbln5 fibulin 5 gene DOID:3144 cutis laxa ISO RGD:736145 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cutis Laxa, Dominant/Recessive | ClinVar Annotator: match by term: Cutis laxa PMID:15269314|PMID:16374472|PMID:16652333|PMID:17035250|PMID:19194475|PMID:20007835|PMID:20599547|PMID:21576112|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28765615|PMID:29653220|PMID:32802946 8739702 Fbln5 fibulin 5 gene DOID:4448 macular degeneration ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:24033266|PMID:28492532 8739702 Fbln5 fibulin 5 gene DOID:6000 congestive heart failure ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 8739702 Fbln5 fibulin 5 gene DOID:630 genetic disease ISO RGD:736145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8739702 Fbln5 fibulin 5 gene DOID:6432 pulmonary hypertension ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 8739702 Fbln5 fibulin 5 gene DOID:7319 axonal neuropathy ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868|PMID:28492532 8739702 Fbln5 fibulin 5 gene DOID:8501 fundus dystrophy ISO RGD:736145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 8739702 Fbln5 fibulin 5 gene DOID:9000848 Charcot-Marie-Tooth Disease Type 1H ISO RGD:736145 D RGD:7240710 20220316 OMIM 8739702 Fbln5 fibulin 5 gene DOID:9000848 Charcot-Marie-Tooth Disease Type 1H ISO RGD:736145 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1H | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION PMID:16652333|PMID:21576112|PMID:23328402|PMID:25741868|PMID:28332470|PMID:28492532|PMID:29653220|PMID:31945625|PMID:32757322|PMID:32802946 8739702 Fbln5 fibulin 5 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 8739702 Fbln5 fibulin 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 8739702 Fbln5 fibulin 5 gene DOID:9002884 Emphysema ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 8739702 Fbln5 fibulin 5 gene DOID:9007916 Age Related Macular Degeneration 3 ISO RGD:736145 D RGD:7240710 20180130 OMIM 8739702 Fbln5 fibulin 5 gene DOID:9007916 Age Related Macular Degeneration 3 ISO RGD:736145 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Macular degeneration, age-related, 3 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION PMID:15269314|PMID:16374472|PMID:16652333|PMID:17035250|PMID:19194475|PMID:20007835|PMID:20599547|PMID:21576112|PMID:23328402|PMID:24033266|PMID:25741868|PMID:28332470|PMID:28492532|PMID:28765615|PMID:29653220|PMID:31945625|PMID:32757322|PMID:32802946 8739702 Fbln5 fibulin 5 gene DOID:9008680 Respiratory Tract Infections ISO RGD:736145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 8739725 Dusp4 dual specificity phosphatase 4 gene DOID:630 genetic disease ISO RGD:1348525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739725 Dusp4 dual specificity phosphatase 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8739736 Prr22 proline rich 22 gene DOID:630 genetic disease ISO RGD:1602428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739743 Prkcsh PRKCSH beta subunit of glucosidase II gene DOID:0050770 polycystic liver disease ISO RGD:1320068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532 8739743 Prkcsh PRKCSH beta subunit of glucosidase II gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8739743 Prkcsh PRKCSH beta subunit of glucosidase II gene DOID:0080322 polycystic kidney disease ISO RGD:1320068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 8739743 Prkcsh PRKCSH beta subunit of glucosidase II gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8739743 Prkcsh PRKCSH beta subunit of glucosidase II gene DOID:0110624 primary ciliary dyskinesia 30 ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 8739743 Prkcsh PRKCSH beta subunit of glucosidase II gene DOID:0111254 glutaric acidemia I ISO RGD:1320068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8739743 Prkcsh PRKCSH beta subunit of glucosidase II gene DOID:2043 hepatitis B treatment ISO RGD:1320069 D RGD:9068941 20200609 RGD PMID:24769044|REF_RGD_ID:14402034 8739743 Prkcsh PRKCSH beta subunit of glucosidase II gene DOID:3413 alpha-mannosidosis ISO RGD:1320068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8739743 Prkcsh PRKCSH beta subunit of glucosidase II gene DOID:409 liver disease ISO RGD:1320068 D RGD:9068941 20200609 RGD PMID:12529853|REF_RGD_ID:1599188 8739743 Prkcsh PRKCSH beta subunit of glucosidase II gene DOID:630 genetic disease ISO RGD:1320068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 8739743 Prkcsh PRKCSH beta subunit of glucosidase II gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320068 D RGD:7240710 20180130 OMIM 8739743 Prkcsh PRKCSH beta subunit of glucosidase II gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1320068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:11047756|PMID:12529853|PMID:12577059|PMID:16835903|PMID:22415584|PMID:25741868|PMID:26046366|PMID:28166811|PMID:28492532|PMID:29038287 8739765 Arfip2 ADP ribosylation factor interacting protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8739765 Arfip2 ADP ribosylation factor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1349532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739789 Dennd2d DENN domain containing 2D gene DOID:12849 autistic disorder ISO RGD:1602459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8739789 Dennd2d DENN domain containing 2D gene DOID:630 genetic disease ISO RGD:1602459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739809 Tnks1bp1 tankyrase 1 binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1323786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8739809 Tnks1bp1 tankyrase 1 binding protein 1 gene DOID:2661 myoepithelioma ISO RGD:1323786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8739809 Tnks1bp1 tankyrase 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1323786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739842 Fbxo17 F-box protein 17 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1318004 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8739842 Fbxo17 F-box protein 17 gene DOID:630 genetic disease ISO RGD:1318004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739842 Fbxo17 F-box protein 17 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318004 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8739851 Il31 interleukin 31 gene DOID:3310 atopic dermatitis ISO RGD:1353267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 8739851 Il31 interleukin 31 gene DOID:630 genetic disease ISO RGD:1353267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739864 Srpk1 SRSF protein kinase 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1317950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8739864 Srpk1 SRSF protein kinase 1 gene DOID:630 genetic disease ISO RGD:1317950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739881 Sra1 steroid receptor RNA activator 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8739881 Sra1 steroid receptor RNA activator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8739881 Sra1 steroid receptor RNA activator 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8739881 Sra1 steroid receptor RNA activator 1 gene DOID:3614 Kallmann syndrome ISO RGD:1353576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 8739881 Sra1 steroid receptor RNA activator 1 gene DOID:6000 congestive heart failure severity ISO RGD:1353576 D RGD:9068941 20230401 RGD associated with ischemic cardiomyopathy; RNA:increased expression:heart left ventricle (human) PMID:27317124|REF_RGD_ID:243048444 8739881 Sra1 steroid receptor RNA activator 1 gene DOID:630 genetic disease ISO RGD:1353576 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8739881 Sra1 steroid receptor RNA activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8739881 Sra1 steroid receptor RNA activator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8739895 Gnrh2 gonadotropin releasing hormone 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1347634 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8739895 Gnrh2 gonadotropin releasing hormone 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1347634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8739895 Gnrh2 gonadotropin releasing hormone 2 gene DOID:630 genetic disease ISO RGD:1347634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739900 Qrich1 glutamine rich 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8739900 Qrich1 glutamine rich 1 gene DOID:1059 intellectual disability ISO RGD:1606541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868|PMID:28692176|PMID:33009816|PMID:34859529 8739900 Qrich1 glutamine rich 1 gene DOID:630 genetic disease ISO RGD:1606541 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27694994|PMID:28492532|PMID:34859529 8739900 Qrich1 glutamine rich 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1606541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8739900 Qrich1 glutamine rich 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8739900 Qrich1 glutamine rich 1 gene DOID:9009176 VERVERI-BRADY SYNDROME ISO RGD:1606541 D RGD:7240710 20190315 OMIM 8739900 Qrich1 glutamine rich 1 gene DOID:9009176 VERVERI-BRADY SYNDROME ISO RGD:1606541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ververi-Brady syndrome PMID:25741868|PMID:28692176|PMID:30281152|PMID:33009816|PMID:34859529 8739921 Cuta cutA divalent cation tolerance homolog gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8739921 Cuta cutA divalent cation tolerance homolog gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1346513 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8739921 Cuta cutA divalent cation tolerance homolog gene DOID:630 genetic disease ISO RGD:1346513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739935 Angptl2 angiopoietin like 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8739935 Angptl2 angiopoietin like 2 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:733949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8739935 Angptl2 angiopoietin like 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8739935 Angptl2 angiopoietin like 2 gene DOID:630 genetic disease ISO RGD:733949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739944 Prmt3 protein arginine methyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1604394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8739944 Prmt3 protein arginine methyltransferase 3 gene DOID:2841 asthma ISO RGD:620413 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20423833|REF_RGD_ID:9491823 8739944 Prmt3 protein arginine methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739986 Sp3 Sp3 transcription factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319818 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8739986 Sp3 Sp3 transcription factor gene DOID:630 genetic disease ISO RGD:1319818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739994 Mrpl46 mitochondrial ribosomal protein L46 gene DOID:10283 prostate cancer ISO RGD:1319287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8739994 Mrpl46 mitochondrial ribosomal protein L46 gene DOID:2717 Bloom syndrome ISO RGD:1319287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8739994 Mrpl46 mitochondrial ribosomal protein L46 gene DOID:630 genetic disease ISO RGD:1319287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8739994 Mrpl46 mitochondrial ribosomal protein L46 gene DOID:9256 colorectal cancer ISO RGD:1319287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8740023 LOC102013799 chromosome unknown open reading frame, human C21orf91 gene DOID:10652 Alzheimer's disease ISO RGD:1352771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8740023 LOC102013799 chromosome unknown open reading frame, human C21orf91 gene DOID:630 genetic disease ISO RGD:1352771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740023 LOC102013799 chromosome unknown open reading frame, human C21orf91 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8740038 Wac WW domain containing adaptor with coiled-coil gene DOID:0081126 DeSanto-Shinawi syndrome ISO RGD:1605391 D RGD:7240710 20190315 OMIM 8740038 Wac WW domain containing adaptor with coiled-coil gene DOID:0081126 DeSanto-Shinawi syndrome ISO RGD:1605391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related condition PMID:23033978|PMID:25741868|PMID:26264232|PMID:26757981|PMID:28191890|PMID:29190062 8740038 Wac WW domain containing adaptor with coiled-coil gene DOID:630 genetic disease ISO RGD:1605391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21522184|PMID:23033978|PMID:25356899|PMID:25741868|PMID:26264232|PMID:26325558|PMID:26757981|PMID:28492532 8740038 Wac WW domain containing adaptor with coiled-coil gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 8740038 Wac WW domain containing adaptor with coiled-coil gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8740059 Mfsd13a major facilitator superfamily domain containing 13A gene DOID:630 genetic disease ISO RGD:1319594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740086 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:0070177 spermatogenic failure 22 ISO RGD:1348488 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 22 PMID:35991565 8740086 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 8740086 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8740086 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:14227 azoospermia ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8740086 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8740086 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8740086 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1348488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740086 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8740086 Fahd1 fumarylacetoacetate hydrolase domain containing 1 gene DOID:9007561 Premature Ovarian Failure 23 ISO RGD:1348488 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 23 PMID:31000419 8740092 Ebf4 EBF family member 4 gene DOID:0080600 COVID-19 ISO RGD:1625812 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8740092 Ebf4 EBF family member 4 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1625812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8740092 Ebf4 EBF family member 4 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1625812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8740092 Ebf4 EBF family member 4 gene DOID:630 genetic disease ISO RGD:1625812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740113 Wdr44 WD repeat domain 44 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8740113 Wdr44 WD repeat domain 44 gene DOID:12849 autistic disorder ISO RGD:1348946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8740113 Wdr44 WD repeat domain 44 gene DOID:630 genetic disease ISO RGD:1348946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740142 Arpc5l actin related protein 2/3 complex subunit 5 like gene DOID:630 genetic disease ISO RGD:1318888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740154 Rab25 RAB25, member RAS oncogene family gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8740154 Rab25 RAB25, member RAS oncogene family gene DOID:0060586 Noonan syndrome 8 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 8740154 Rab25 RAB25, member RAS oncogene family gene DOID:0111940 immunodeficiency 42 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8740154 Rab25 RAB25, member RAS oncogene family gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8740154 Rab25 RAB25, member RAS oncogene family gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8740154 Rab25 RAB25, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8740154 Rab25 RAB25, member RAS oncogene family gene DOID:5812 MHC class II deficiency ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8740154 Rab25 RAB25, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1318219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740154 Rab25 RAB25, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8740170 Rbbp4 RB binding protein 4, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:1323349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740188 CTCF CCCTC-binding factor gene DOID:0050671 female breast cancer disease_progression ISO RGD:733105 D RGD:9068941 20220211 RGD protein:altered expression:breast (human) PMID:32435142|REF_RGD_ID:151356743 8740188 Ctcf CCCTC-binding factor gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:733105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8740188 Ctcf CCCTC-binding factor gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 8740188 Ctcf CCCTC-binding factor gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8740188 Ctcf CCCTC-binding factor gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:733105 D RGD:7240710 20180130 OMIM 8740188 Ctcf CCCTC-binding factor gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:733105 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: CTCF-Related Disorder | ClinVar Annotator: match by term: CTCF-related condition | ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome PMID:23746550|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28529057|PMID:29076501|PMID:30893510|PMID:31239556|PMID:31785789|PMID:33004838|PMID:33644862|PMID:34374989|PMID:34657170|PMID:36454652 8740188 Ctcf CCCTC-binding factor gene DOID:0080144 childhood acute lymphocytic leukemia disease_progression ISO RGD:733105 D RGD:9068941 20220217 RGD mRNA, protein:increased expression:bone marrow, blood (human) PMID:24393203|REF_RGD_ID:151356757 8740188 Ctcf CCCTC-binding factor gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 8740188 Ctcf CCCTC-binding factor gene DOID:1059 intellectual disability ISO RGD:733105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8740188 Ctcf CCCTC-binding factor gene DOID:1612 breast cancer severity ISO RGD:733105 D RGD:9068941 20220217 RGD protein:alternative form, increased expression:breast tumor (human) PMID:19737964|REF_RGD_ID:151356756 8740188 Ctcf CCCTC-binding factor gene DOID:2513 basal cell carcinoma ISO RGD:733105 D RGD:9068941 20220210 RGD DNA:mutations:multiple (human) PMID:27974201|REF_RGD_ID:151356739 8740188 Ctcf CCCTC-binding factor gene DOID:3151 skin squamous cell carcinoma ISO RGD:733105 D RGD:9068941 20220210 RGD DNA:mutations:multiple (human) PMID:27974201|REF_RGD_ID:151356739 8740188 Ctcf CCCTC-binding factor gene DOID:3459 breast carcinoma ISO RGD:733105 D RGD:9068941 20220217 RGD protein:altered expression:breast tumor (human) PMID:15354217|REF_RGD_ID:151356910 8740188 Ctcf CCCTC-binding factor gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:733105 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma 8740188 Ctcf CCCTC-binding factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 8740188 Ctcf CCCTC-binding factor gene DOID:630 genetic disease ISO RGD:733105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18654629|PMID:19563753|PMID:22354838|PMID:23746550|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28529057|PMID:28619046|PMID:30893510|PMID:31239556|PMID:31785789|PMID:33004838|PMID:33644862|PMID:34374989 8740188 Ctcf CCCTC-binding factor gene DOID:8923 skin melanoma ISO RGD:733105 D RGD:9068941 20220210 RGD DNA:mutations:multiple (human) PMID:27974201|REF_RGD_ID:151356739 8740188 Ctcf CCCTC-binding factor gene DOID:9002170 Experimental Neoplasms ISO RGD:733105 D RGD:9068941 20220217 RGD human breast cancer cells in mouse model PMID:21896759|REF_RGD_ID:151356745 8740188 Ctcf CCCTC-binding factor gene DOID:9007748 Retinal Neovascularization ISO RGD:733106 D RGD:9068941 20220217 RGD PMID:21896759|REF_RGD_ID:151356745 8740215 LOC102028628 olfactory receptor 6K6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1351378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8740215 LOC102028628 olfactory receptor 6K6 gene DOID:1540 parathyroid carcinoma ISO RGD:1351378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8740215 LOC102028628 olfactory receptor 6K6 gene DOID:630 genetic disease ISO RGD:1351378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740215 LOC102028628 olfactory receptor 6K6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8740216 LOC102029959 olfactory receptor 13H1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8740216 LOC102029959 olfactory receptor 13H1 gene DOID:12849 autistic disorder ISO RGD:1344200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8740216 LOC102029959 olfactory receptor 13H1 gene DOID:630 genetic disease ISO RGD:1344200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740232 Slit2 slit guidance ligand 2 gene DOID:0050144 Kartagener syndrome ISO RGD:735484 D RGD:9068941 20220825 MouseDO 8740232 Slit2 slit guidance ligand 2 gene DOID:0050545 visceral heterotaxy ISO RGD:735484 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8740232 Slit2 slit guidance ligand 2 gene DOID:0060224 atrial fibrillation ISO RGD:733021 D RGD:9068941 20230330 RGD associated with heart valve disease;protein:increased expression:right atrial myocardium PMID:33236535|REF_RGD_ID:242905189 8740232 Slit2 slit guidance ligand 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733021 D RGD:9068941 20220210 CTD CTD Direct Evidence: therapeutic PMID:33120864 8740232 Slit2 slit guidance ligand 2 gene DOID:0080205 CAKUT ISO RGD:733021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:26026792|PMID:28492532 8740232 Slit2 slit guidance ligand 2 gene DOID:0080745 polymyositis ISO RGD:733021 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:muscle PMID:32213157|REF_RGD_ID:243048425 8740232 Slit2 slit guidance ligand 2 gene DOID:10223 dermatomyositis ISO RGD:733021 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:muscle PMID:32213157|REF_RGD_ID:243048425 8740232 Slit2 slit guidance ligand 2 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:733021 D RGD:9068941 20230330 RGD associated with eye disease; protein:increased expression:vitreous PMID:28973045|REF_RGD_ID:243048421 8740232 Slit2 slit guidance ligand 2 gene DOID:1657 ventricular septal defect ISO RGD:735484 D RGD:9068941 20230330 RGD PMID:25691540|REF_RGD_ID:243048427 8740232 Slit2 slit guidance ligand 2 gene DOID:224 transient cerebral ischemia ISO RGD:69310 D RGD:9068941 20230330 RGD protein:increased expression:brain, astrocyte PMID:27686659|REF_RGD_ID:243048429 8740232 Slit2 slit guidance ligand 2 gene DOID:224 transient cerebral ischemia ISO RGD:69310 D RGD:9068941 20230330 RGD protein:increased expression:hippocampus PMID:26764532|REF_RGD_ID:11573340 8740232 Slit2 slit guidance ligand 2 gene DOID:2975 cystic kidney disease ISO RGD:735484 D RGD:9068941 20220825 MouseDO 8740232 Slit2 slit guidance ligand 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:733021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20153733 8740232 Slit2 slit guidance ligand 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69310 D RGD:9068941 20230406 RGD mRNA:increased expression:lung PMID:19944214|REF_RGD_ID:243048459 8740232 Slit2 slit guidance ligand 2 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:69310 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, glomerulus PMID:15215188|REF_RGD_ID:2316132 8740232 Slit2 slit guidance ligand 2 gene DOID:5409 lung small cell carcinoma ISO RGD:733021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 8740232 Slit2 slit guidance ligand 2 gene DOID:630 genetic disease ISO RGD:733021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8740232 Slit2 slit guidance ligand 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19100240 8740232 Slit2 slit guidance ligand 2 gene DOID:8947 diabetic retinopathy ISO RGD:69310 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:retina PMID:28973045|REF_RGD_ID:243048421 8740232 Slit2 slit guidance ligand 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69310 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:19783284|REF_RGD_ID:2316127 8740232 Slit2 slit guidance ligand 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69310 D RGD:9068941 20230401 RGD mRNA,protein:decreased expression:spinal cord: PMID:27893610|REF_RGD_ID:243048440 8740232 Slit2 slit guidance ligand 2 gene DOID:9000998 Brain Injuries exacerbates ISO RGD:69310 D RGD:9068941 20230401 RGD PMID:26550694|REF_RGD_ID:243048437 8740232 Slit2 slit guidance ligand 2 gene DOID:9003139 Cardiac Fibrosis ISO RGD:735484 D RGD:9068941 20230330 RGD protein:increased expression:left ventricle PMID:33236535|REF_RGD_ID:242905189 8740232 Slit2 slit guidance ligand 2 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:69310 D RGD:9068941 20230330 RGD PMID:31356825|REF_RGD_ID:242905191 8740232 Slit2 slit guidance ligand 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:69310 D RGD:9068941 20230401 RGD mRNA:increased expression:carotid artery PMID:26841069|REF_RGD_ID:243048443 8740232 Slit2 slit guidance ligand 2 gene DOID:9008104 Cancer Pain ameliorates ISO RGD:69310 D RGD:9068941 20230401 RGD PMID:26738857|REF_RGD_ID:243048441 8740232 Slit2 slit guidance ligand 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:735484 D RGD:9068941 20220825 MouseDO 8740288 Rfx5 regulatory factor X5 gene DOID:0080422 Dravet syndrome ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8740288 Rfx5 regulatory factor X5 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8740288 Rfx5 regulatory factor X5 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8740288 Rfx5 regulatory factor X5 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8740288 Rfx5 regulatory factor X5 gene DOID:1540 parathyroid carcinoma ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8740288 Rfx5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:7240710 20180207 OMIM 8740288 Rfx5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10079298|PMID:12368908|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098 8740288 Rfx5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10079298|PMID:12368908|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:29527204|PMID:30084052|PMID:30170160|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098 8740288 Rfx5 regulatory factor X5 gene DOID:5812 MHC class II deficiency ISO RGD:1323259 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10079298|PMID:10395672|PMID:12368908|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:29527204|PMID:30084052|PMID:30170160|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098 8740288 Rfx5 regulatory factor X5 gene DOID:627 severe combined immunodeficiency ISO RGD:1323259 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bare Lymphocyte Syndrome PMID:25741868|PMID:28492532 8740288 Rfx5 regulatory factor X5 gene DOID:630 genetic disease ISO RGD:1323259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8740288 Rfx5 regulatory factor X5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8740317 Onecut2 one cut homeobox 2 gene DOID:0050770 polycystic liver disease ISO RGD:1354460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 8740317 Onecut2 one cut homeobox 2 gene DOID:630 genetic disease ISO RGD:1354460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740317 Onecut2 one cut homeobox 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1354460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 8740317 Onecut2 one cut homeobox 2 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1354460 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 8740317 Onecut2 one cut homeobox 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 8740345 Esrrg estrogen related receptor gamma gene DOID:0050439 Usher syndrome ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 8740345 Esrrg estrogen related receptor gamma gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8740345 Esrrg estrogen related receptor gamma gene DOID:1540 parathyroid carcinoma ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8740345 Esrrg estrogen related receptor gamma gene DOID:5426 primary ovarian insufficiency ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8740345 Esrrg estrogen related receptor gamma gene DOID:630 genetic disease ISO RGD:1349366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740345 Esrrg estrogen related receptor gamma gene DOID:9002231 Fetal Growth Retardation ISO RGD:1349366 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35220427 8740345 Esrrg estrogen related receptor gamma gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8740363 Pef1 penta-EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1605152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740372 Lat linker for activation of T cells gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1342944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8740372 Lat linker for activation of T cells gene DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb ISO RGD:1342944 D RGD:8554872 20231226 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 8740372 Lat linker for activation of T cells gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 8740372 Lat linker for activation of T cells gene DOID:0080356 IgG4-related disease ISO RGD:734455 D RGD:9068941 20220825 MouseDO 8740372 Lat linker for activation of T cells gene DOID:0111983 immunodeficiency 52 ISO RGD:1342944 D RGD:7240710 20190315 OMIM 8740372 Lat linker for activation of T cells gene DOID:0111983 immunodeficiency 52 ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to LAT deficiency PMID:25741868|PMID:27242165|PMID:27522155|PMID:28492532 8740372 Lat linker for activation of T cells gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1342944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8740372 Lat linker for activation of T cells gene DOID:3602 toxic encephalopathy ISO RGD:1342944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8740372 Lat linker for activation of T cells gene DOID:409 liver disease ISO RGD:1342944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8740372 Lat linker for activation of T cells gene DOID:5419 schizophrenia ISO RGD:1342944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8740372 Lat linker for activation of T cells gene DOID:630 genetic disease ISO RGD:1342944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8740390 Morn5 MORN repeat containing 5 gene DOID:630 genetic disease ISO RGD:1317107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740399 Pdlim5 PDZ and LIM domain 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1553828 D RGD:9068941 20220825 MouseDO 8740399 Pdlim5 PDZ and LIM domain 5 gene DOID:630 genetic disease ISO RGD:1344700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740399 Pdlim5 PDZ and LIM domain 5 gene DOID:8778 Crohn's disease ISO RGD:1344700 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 8740399 Pdlim5 PDZ and LIM domain 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:1344700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8740399 Pdlim5 PDZ and LIM domain 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8740437 Arl6ip5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:0060001 withdrawal disorder ISO RGD:1344465 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21600884 8740437 Arl6ip5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:630 genetic disease ISO RGD:1344465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740437 Arl6ip5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22452940 8740437 Arl6ip5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:9002170 Experimental Neoplasms ISO RGD:1344465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29545876 8740437 Arl6ip5 ADP ribosylation factor like GTPase 6 interacting protein 5 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1344465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29545876 8740447 Pigm phosphatidylinositol glycan anchor biosynthesis class M gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8740447 Pigm phosphatidylinositol glycan anchor biosynthesis class M gene DOID:1540 parathyroid carcinoma ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8740447 Pigm phosphatidylinositol glycan anchor biosynthesis class M gene DOID:630 genetic disease ISO RGD:1346161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8740447 Pigm phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9003871 Venous Thrombosis ISO RGD:1346161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16767100 8740447 Pigm phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9007061 Glycosylphosphatidylinositol Biosynthesis Defect 1 ISO RGD:1346161 D RGD:7240710 20230531 OMIM 8740447 Pigm phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9007061 Glycosylphosphatidylinositol Biosynthesis Defect 1 ISO RGD:1346161 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:16767100|PMID:17442906|PMID:25293775|PMID:25741868|PMID:28492532|PMID:31445883 8740447 Pigm phosphatidylinositol glycan anchor biosynthesis class M gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8740453 Rpl13a ribosomal protein L13a gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1351312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8740453 Rpl13a ribosomal protein L13a gene DOID:3910 lung adenocarcinoma ISO RGD:1351312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8740453 Rpl13a ribosomal protein L13a gene DOID:630 genetic disease ISO RGD:1351312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740453 Rpl13a ribosomal protein L13a gene DOID:9006205 Animal Disease Models ISO RGD:1351312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:0050742 nicotine dependence ISO RGD:1347163 D RGD:9068941 20240307 RGD DNA:SNP, haplotype:exon: (rs10033119) (human) PMID:22309839|REF_RGD_ID:402463945 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:0050830 peripheral artery disease ISO RGD:1347163 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:0080074 neural tube defect ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17400914 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:10763 hypertension ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:15699473|REF_RGD_ID:1357410 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:11832 visual epilepsy ISO RGD:3198 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:10521595|REF_RGD_ID:1642320 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9729278 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:17265460|REF_RGD_ID:1642308 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:1596 depressive disorder treatment ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:19623606|PMID:21803058|REF_RGD_ID:10448284|REF_RGD_ID:10448937 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:1825 childhood absence epilepsy treatment ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:17331209|REF_RGD_ID:10448963 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:1936 atherosclerosis ISO RGD:737212 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:2030 anxiety disorder ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11440811 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:2030 anxiety disorder treatment ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:21803058|REF_RGD_ID:10448284 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:2559 opiate dependence ISO RGD:1347163 D RGD:9068941 20240307 RGD DNA:SNP, haplotype:intron: (rs4691910) (human) PMID:32757697|REF_RGD_ID:402463942 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:2559 opiate dependence susceptibility ISO RGD:1347163 D RGD:9068941 20240307 RGD DNA:SNP, haplotype:enhancer: (rs4128839) (human) PMID:31689297|REF_RGD_ID:402463939 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1347163 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:15337376|REF_RGD_ID:1642609 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:630 genetic disease ISO RGD:1347163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:670 amphetamine abuse ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19566775 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:670 amphetamine abuse ISO RGD:1347163 D RGD:9068941 20240307 RGD DNA:SNP:intron: (rs7687423) (human) PMID:19566775|REF_RGD_ID:402463941 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:809 cocaine abuse susceptibility ISO RGD:1347163 D RGD:9068941 20240307 RGD DNA:SNP:intron: (rs4518200) (human) PMID:33242852|REF_RGD_ID:402463938 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:8646 substance-induced psychosis ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19566775 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9001109 Anorexia ISO RGD:3198 D RGD:9068941 20200609 RGD associated with Neoplasms;mRNA, protein:decreased expression:hypothalamus PMID:17234300|REF_RGD_ID:10448965 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9002498 Wallerian Degeneration ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:10320723|REF_RGD_ID:1642322 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9002735 alcohol withdrawal syndrome ISO RGD:3198 D RGD:9068941 20240321 RGD mRNA:decreased expression:hippocampus, cerebral cortex (rat) PMID:20028355|REF_RGD_ID:10448926 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:18201831|REF_RGD_ID:10448967 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9006302 Binge Drinking ISO RGD:737212 D RGD:9068941 20240321 RGD protein:decreased expression:central amygdaloid nucleus (mouse) PMID:22218088|REF_RGD_ID:405096664 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9006302 Binge Drinking ameliorates ISO RGD:737212 D RGD:9068941 20240307 RGD PMID:30647448|REF_RGD_ID:402463940 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9007096 Stroke ISO RGD:3198 D RGD:9068941 20200609 RGD PMID:10891620|REF_RGD_ID:1642319 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3198 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:17562528|REF_RGD_ID:1642307 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9007993 Dehydration ISO RGD:3198 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:16728491|REF_RGD_ID:1642311 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9008251 Toothache ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18809749 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9970 obesity ISO RGD:1347163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9970 obesity ISO RGD:3198 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:17447163|REF_RGD_ID:10448938 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9970 obesity ISO RGD:737212 D RGD:9068941 20220825 MouseDO OMIM:601665 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9970 obesity susceptibility ISO RGD:737212 D RGD:9068941 20200609 RGD associated with Hyperinsulinemia PMID:9861026|REF_RGD_ID:1642306 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9976 heroin dependence ISO RGD:1347163 D RGD:9068941 20240307 RGD DNA:SNP:intron: (rs4518200) (human) PMID:24845178|REF_RGD_ID:401976498 8740478 Npy1r neuropeptide Y receptor Y1 gene DOID:9976 heroin dependence susceptibility ISO RGD:1347163 D RGD:9068941 20240307 RGD DNA:SNP, haplotype:intron: (rs4234955) (human) PMID:29465008|REF_RGD_ID:402463944 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:732520 D RGD:9068941 20240229 RGD DNA:SNP::(rs6486120) (human) PMID:20554694|REF_RGD_ID:401976551 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:1059 intellectual disability ISO RGD:732520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:13580 cholestasis ISO RGD:62003 D RGD:9068941 20200609 RGD mRNA:increased expression:cholangiocyte PMID:21757639|REF_RGD_ID:10043349 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:732520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:630 genetic disease ISO RGD:732520 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:732520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9002644 Premature Aging ISO RGD:62295 D RGD:9068941 20200609 RGD PMID:16847346|REF_RGD_ID:10043345 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9002735 alcohol withdrawal syndrome severity ISO RGD:732520 D RGD:9068941 20240302 RGD mRNA:decreased expression:peripheral blood mononuclear cells (human) PMID:20735373|REF_RGD_ID:401976556 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:62003 D RGD:9068941 20200609 RGD protein:increased expression:pineal gland PMID:23336172|REF_RGD_ID:10043348 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62003 D RGD:9068941 20200609 RGD PMID:18624957|REF_RGD_ID:2301030 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732520 D RGD:9068941 20230907 CTD CTD Direct Evidence: therapeutic PMID:36602574 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9007456 Female Infertility ISO RGD:732520 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:20200203 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:732520 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:24652800 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9278 hyperargininemia ISO RGD:732520 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:27056296 8740501 Bmal1 basic helix-loop-helix ARNT like 1 gene DOID:9351 diabetes mellitus ISO RGD:62295 D RGD:9068941 20220825 MouseDO 8740540 Med23 mediator complex subunit 23 gene DOID:0081190 autosomal recessive intellectual developmental disorder 18 ISO RGD:1316995 D RGD:7240710 20180130 OMIM 8740540 Med23 mediator complex subunit 23 gene DOID:0081190 autosomal recessive intellectual developmental disorder 18 ISO RGD:1316995 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 18 PMID:21868677|PMID:25741868|PMID:25845469|PMID:27311965|PMID:28492532|PMID:30171209|PMID:30847200|PMID:31164858 8740540 Med23 mediator complex subunit 23 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1316995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 8740540 Med23 mediator complex subunit 23 gene DOID:1059 intellectual disability ISO RGD:1316995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8740540 Med23 mediator complex subunit 23 gene DOID:630 genetic disease ISO RGD:1316995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502833|PMID:12052859|PMID:21802329|PMID:25741868|PMID:28492532|PMID:29726057|PMID:31164858|PMID:7649538 8740540 Med23 mediator complex subunit 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8740540 Med23 mediator complex subunit 23 gene DOID:9278 hyperargininemia ISO RGD:1316995 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arginase deficiency PMID:10502833|PMID:11883902|PMID:12052859|PMID:1463019|PMID:15565656|PMID:1598908|PMID:16199547|PMID:17576681|PMID:18666241|PMID:18957279|PMID:19052914|PMID:19562505|PMID:19936428|PMID:21310339|PMID:21802329|PMID:22959135|PMID:22964440|PMID:2365823|PMID:23859858|PMID:24103480|PMID:24482476|PMID:24814679|PMID:25741868|PMID:26169240|PMID:27038030|PMID:27898091|PMID:28089752|PMID:28492532|PMID:29726057|PMID:30285816|PMID:31130284|PMID:32450233|PMID:32769929|PMID:32778825|PMID:33193012|PMID:34419780|PMID:34782662|PMID:624188|PMID:7649538|PMID:7981719|PMID:8902193|PMID:9536098 8740575 Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:6771255 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 8740575 Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:0111855 primary ciliary dyskinesia 42 ISO RGD:6771255 D RGD:7240710 20200101 OMIM 8740575 Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:0111855 primary ciliary dyskinesia 42 ISO RGD:6771255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42 PMID:1523039|PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:30237576|PMID:8813877 8740575 Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:630 genetic disease ISO RGD:6771255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8740575 Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6771255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8740575 Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:6771255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:17576681|PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:8813877|PMID:9536098 8740587 Tmem245 transmembrane protein 245 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1319034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 8740587 Tmem245 transmembrane protein 245 gene DOID:630 genetic disease ISO RGD:1319034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740610 Lrrc8e leucine rich repeat containing 8 VRAC subunit E gene DOID:0080490 mucolipidosis type IV ISO RGD:1604796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8740610 Lrrc8e leucine rich repeat containing 8 VRAC subunit E gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1604796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8740610 Lrrc8e leucine rich repeat containing 8 VRAC subunit E gene DOID:2843 long QT syndrome ISO RGD:1604796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8740610 Lrrc8e leucine rich repeat containing 8 VRAC subunit E gene DOID:630 genetic disease ISO RGD:1604796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740620 Lin52 lin-52 DREAM MuvB core complex component gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1315617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 8740620 Lin52 lin-52 DREAM MuvB core complex component gene DOID:1059 intellectual disability ISO RGD:1315617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8740620 Lin52 lin-52 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1315617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740636 Mafg MAF bZIP transcription factor G gene DOID:0080600 COVID-19 ISO RGD:1352039 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8740636 Mafg MAF bZIP transcription factor G gene DOID:1852 intrahepatic cholestasis ISO RGD:1352039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20146260 8740636 Mafg MAF bZIP transcription factor G gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8740636 Mafg MAF bZIP transcription factor G gene DOID:630 genetic disease ISO RGD:1352039 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740642 Lzts3 leucine zipper tumor suppressor family member 3 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737584 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8740642 Lzts3 leucine zipper tumor suppressor family member 3 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8740642 Lzts3 leucine zipper tumor suppressor family member 3 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:737584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8740660 Gpr156 G protein-coupled receptor 156 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736790 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:37814107 8740660 Gpr156 G protein-coupled receptor 156 gene DOID:630 genetic disease ISO RGD:736790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740660 Gpr156 G protein-coupled receptor 156 gene DOID:9006143 Autosomal Recessive Nonsyndromic Deafness 121 ISO RGD:736790 D RGD:7240710 20231101 OMIM 8740660 Gpr156 G protein-coupled receptor 156 gene DOID:9006143 Autosomal Recessive Nonsyndromic Deafness 121 ISO RGD:736790 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 121 PMID:37814107 8740679 Per1 period circadian regulator 1 gene DOID:0060001 withdrawal disorder ISO RGD:1349050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20738730 8740679 Per1 period circadian regulator 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8740679 Per1 period circadian regulator 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1552867 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 8740679 Per1 period circadian regulator 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1349050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8740679 Per1 period circadian regulator 1 gene DOID:12849 autistic disorder ISO RGD:1349050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17264841 8740679 Per1 period circadian regulator 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349050 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8740679 Per1 period circadian regulator 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8740679 Per1 period circadian regulator 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1349050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8740679 Per1 period circadian regulator 1 gene DOID:630 genetic disease ISO RGD:1349050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740679 Per1 period circadian regulator 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8740679 Per1 period circadian regulator 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1349050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 8740679 Per1 period circadian regulator 1 gene DOID:9002735 alcohol withdrawal syndrome severity ISO RGD:1349050 D RGD:9068941 20240302 RGD mRNA:decreased expression:peripheral blood mononuclear cells (human) PMID:20735373|REF_RGD_ID:401976556 8740717 Cytl1 cytokine like 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1351161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8740717 Cytl1 cytokine like 1 gene DOID:630 genetic disease ISO RGD:1351161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740717 Cytl1 cytokine like 1 gene DOID:6678 tooth and nail syndrome ISO RGD:1351161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 8740725 Abca9 ATP binding cassette subfamily A member 9 gene DOID:630 genetic disease ISO RGD:1314254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740725 Abca9 ATP binding cassette subfamily A member 9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8740769 Arl14epl ADP ribosylation factor like GTPase 14 effector protein like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:6771193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8740769 Arl14epl ADP ribosylation factor like GTPase 14 effector protein like gene DOID:12849 autistic disorder ISO RGD:6771193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8740769 Arl14epl ADP ribosylation factor like GTPase 14 effector protein like gene DOID:630 genetic disease ISO RGD:6771193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740769 Arl14epl ADP ribosylation factor like GTPase 14 effector protein like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6771193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8740769 Arl14epl ADP ribosylation factor like GTPase 14 effector protein like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:6771193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8740776 LOC102026309 olfactory receptor 10K1 gene DOID:1540 parathyroid carcinoma ISO RGD:1351615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8740776 LOC102026309 olfactory receptor 10K1 gene DOID:630 genetic disease ISO RGD:1351615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740776 LOC102026309 olfactory receptor 10K1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8740779 Tars1 threonyl-tRNA synthetase 1 gene DOID:0111870 nonphotosensitive trichothiodystrophy 7 ISO RGD:1347839 D RGD:7240710 20190911 OMIM 8740779 Tars1 threonyl-tRNA synthetase 1 gene DOID:0111870 nonphotosensitive trichothiodystrophy 7 ISO RGD:1347839 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 7, nonphotosensitive PMID:25741868|PMID:28492532|PMID:31374204 8740779 Tars1 threonyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1347839 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740779 Tars1 threonyl-tRNA synthetase 1 gene DOID:633 myositis ISO RGD:1347839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23425968 8740779 Tars1 threonyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8740808 Ntaq1 N-terminal glutamine amidase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1602877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8740808 Ntaq1 N-terminal glutamine amidase 1 gene DOID:630 genetic disease ISO RGD:1602877 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740820 Sema3c semaphorin 3C gene DOID:1826 epilepsy ISO RGD:1319638 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 8740820 Sema3c semaphorin 3C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8740820 Sema3c semaphorin 3C gene DOID:630 genetic disease ISO RGD:1319638 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8740820 Sema3c semaphorin 3C gene DOID:7148 rheumatoid arthritis ISO RGD:1319638 D RGD:9068941 20200609 RGD protein:increased expression:knee, synovium (human) PMID:15077297|REF_RGD_ID:1580084 8740820 Sema3c semaphorin 3C gene DOID:9002189 High Myopia ISO RGD:1319638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8740820 Sema3c semaphorin 3C gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1319638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15548583 8740844 Shbg sex hormone binding globulin gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:736172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8740844 Shbg sex hormone binding globulin gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:736172 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8740844 Shbg sex hormone binding globulin gene DOID:12177 common variable immunodeficiency ISO RGD:736172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8740844 Shbg sex hormone binding globulin gene DOID:12930 dilated cardiomyopathy ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25996886 8740844 Shbg sex hormone binding globulin gene DOID:1380 endometrial cancer ISO RGD:736172 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D327N (human) PMID:17315164|REF_RGD_ID:1625245 8740844 Shbg sex hormone binding globulin gene DOID:1574 alcohol use disorder ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8590623 8740844 Shbg sex hormone binding globulin gene DOID:1790 malignant mesothelioma ISO RGD:736172 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 8740844 Shbg sex hormone binding globulin gene DOID:1875 impotence ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961146 8740844 Shbg sex hormone binding globulin gene DOID:2729 dyskeratosis congenita ISO RGD:736172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8740844 Shbg sex hormone binding globulin gene DOID:3012 Li-Fraumeni syndrome ISO RGD:736172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8740844 Shbg sex hormone binding globulin gene DOID:630 genetic disease ISO RGD:736172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740844 Shbg sex hormone binding globulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:736172 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:17220347 8740844 Shbg sex hormone binding globulin gene DOID:9006646 Metabolic Syndrome ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968811|PMID:17992261 8740844 Shbg sex hormone binding globulin gene DOID:9006646 Metabolic Syndrome ISO RGD:736172 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17884445|REF_RGD_ID:2313785 8740844 Shbg sex hormone binding globulin gene DOID:9351 diabetes mellitus ISO RGD:736172 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18346991|REF_RGD_ID:2313784 8740844 Shbg sex hormone binding globulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:736172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21982312 8740844 Shbg sex hormone binding globulin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736172 D RGD:9068941 20200609 RGD DNA, protein:SNPs, decreased expression:rs6257, rs6259, plasma (human) PMID:19657112|REF_RGD_ID:2313782 8740862 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1314738 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:28492532 8740862 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:0111446 progressive myoclonus epilepsy 3 ISO RGD:1314738 D RGD:7240710 20180130 OMIM 8740862 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:0111446 progressive myoclonus epilepsy 3 ISO RGD:1314738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions PMID:16199547|PMID:17455289|PMID:17576681|PMID:18414213|PMID:22606975|PMID:22638565|PMID:22693283|PMID:22748208|PMID:25060828|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:29302074|PMID:29619247|PMID:29655203|PMID:30295347|PMID:30500434|PMID:30776697|PMID:30825425|PMID:30919572|PMID:31130284|PMID:31216804|PMID:31965297|PMID:32412666|PMID:32581362|PMID:34866617|PMID:9536098 8740862 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8740862 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:22748208|PMID:25741868|PMID:25976102|PMID:27742667|PMID:28492532|PMID:30295347|PMID:31130284 8740862 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:14755 argininosuccinic aciduria ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 8740862 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:1826 epilepsy ISO RGD:1314738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 8740862 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8740862 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:630 genetic disease ISO RGD:1314738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22693283|PMID:22748208|PMID:25060828|PMID:25533962|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26795593|PMID:27742667|PMID:28492532|PMID:29056246|PMID:30295347|PMID:30825425|PMID:30919572|PMID:31130284|PMID:32412666|PMID:32581362 8740862 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy 8740862 Kctd7 potassium channel tetramerization domain containing 7 gene DOID:9001793 Generalized Epilepsy ISO RGD:1314738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532|PMID:30295347|PMID:32581362 8740878 Fgg fibrinogen gamma chain gene DOID:0060903 thrombosis ISO RGD:731481 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thrombus PMID:10688828|PMID:15795540|PMID:17938819|PMID:19300242|PMID:21228398|PMID:24033266|PMID:25039884|PMID:25741868|PMID:26105150|PMID:28211264|PMID:28492532|PMID:29240685|PMID:30349899|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31352677|PMID:31479941|PMID:32852326|PMID:33477601|PMID:35809055|PMID:37583269 8740878 Fgg fibrinogen gamma chain gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:731481 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25741868 8740878 Fgg fibrinogen gamma chain gene DOID:0112313 brain small vessel disease ISO RGD:731481 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes PMID:17951283|REF_RGD_ID:5688761 8740878 Fgg fibrinogen gamma chain gene DOID:1247 blood coagulation disease ISO RGD:731481 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fibrinogen Milano XII, digenic PMID:11435303|PMID:25741868|PMID:28492532|PMID:31064749 8740878 Fgg fibrinogen gamma chain gene DOID:1588 thrombocytopenia ISO RGD:731481 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10688828|PMID:15795540|PMID:17938819|PMID:19300242|PMID:21228398|PMID:24033266|PMID:25039884|PMID:25741868|PMID:26105150|PMID:28211264|PMID:28492532|PMID:29240685|PMID:30349899|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31352677|PMID:31479941|PMID:32852326|PMID:33477601|PMID:35809055|PMID:37583269 8740878 Fgg fibrinogen gamma chain gene DOID:2213 hemorrhagic disease ISO RGD:731481 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10688828|PMID:15795540|PMID:17938819|PMID:19300242|PMID:21228398|PMID:23560673|PMID:24033266|PMID:24556703|PMID:25039884|PMID:25741868|PMID:26105150|PMID:28211264|PMID:28492532|PMID:29240685|PMID:30349899|PMID:30418131|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31352677|PMID:31479941|PMID:32852326|PMID:33477601|PMID:35809055|PMID:37583269 8740878 Fgg fibrinogen gamma chain gene DOID:2236 congenital afibrinogenemia ISO RGD:731481 D RGD:7240710 20180130 OMIM 8740878 Fgg fibrinogen gamma chain gene DOID:2236 congenital afibrinogenemia ISO RGD:731481 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FIBRINOGEN PARIS 1 | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10688828|PMID:10911375|PMID:11001902|PMID:11001903|PMID:11435303|PMID:1249208|PMID:1471077|PMID:15795540|PMID:16144795|PMID:1733971|PMID:17650452|PMID:17849064|PMID:17854317|PMID:17938819|PMID:19300242|PMID:21228398|PMID:21725578|PMID:23061815|PMID:23560673|PMID:24033266|PMID:24556703|PMID:25039884|PMID:2512677|PMID:25320241|PMID:25741868|PMID:26105150|PMID:2617471|PMID:28211264|PMID:28492532|PMID:29240685|PMID:29351094|PMID:2971042|PMID:2976995|PMID:30349899|PMID:30418131|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31352677|PMID:31479941|PMID:32852326|PMID:32877852|PMID:3337908|PMID:33443927|PMID:33477601|PMID:34275736|PMID:34355501|PMID:3563970|PMID:35809055|PMID:35853369|PMID:37583269|PMID:4002201|PMID:4427684|PMID:6654188|PMID:6886002|PMID:7635941|PMID:7654933|PMID:8470043 8740878 Fgg fibrinogen gamma chain gene DOID:2945 severe acute respiratory syndrome ISO RGD:10586 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 8740878 Fgg fibrinogen gamma chain gene DOID:4989 pancreatitis ISO RGD:2613 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, rough endoplasmic reticulum PMID:19954227|REF_RGD_ID:5688770 8740878 Fgg fibrinogen gamma chain gene DOID:630 genetic disease ISO RGD:731481 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10613648|PMID:18832913|PMID:28492532|PMID:3160702|PMID:35821906|PMID:7740487 8740878 Fgg fibrinogen gamma chain gene DOID:9000058 Keloid ISO RGD:731481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8740878 Fgg fibrinogen gamma chain gene DOID:9000217 Stomach Neoplasms ISO RGD:731481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 8740878 Fgg fibrinogen gamma chain gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:731481 D RGD:9068941 20200609 RGD PMID:17038160|REF_RGD_ID:11352673 8740878 Fgg fibrinogen gamma chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2613 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:17054587|REF_RGD_ID:1599810 8740878 Fgg fibrinogen gamma chain gene DOID:9003121 Thromboembolism ISO RGD:731481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:25741868|PMID:31064749 8740878 Fgg fibrinogen gamma chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:731481 D RGD:7240710 20180130 OMIM 8740878 Fgg fibrinogen gamma chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:731481 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 3 PMID:10688828|PMID:10911375|PMID:11435303|PMID:15795540|PMID:1733971|PMID:17650452|PMID:17849064|PMID:17938819|PMID:19300242|PMID:19923982|PMID:19949684|PMID:21228398|PMID:22836217|PMID:23061815|PMID:2328317|PMID:24033266|PMID:2496144|PMID:25039884|PMID:2512677|PMID:25320241|PMID:25741868|PMID:26105150|PMID:2617471|PMID:28211264|PMID:28492532|PMID:29240685|PMID:29351094|PMID:2971042|PMID:2976995|PMID:30349899|PMID:30431218|PMID:30487145|PMID:30632992|PMID:31064749|PMID:31295712|PMID:31352677|PMID:31479941|PMID:3175983|PMID:32852326|PMID:32877852|PMID:3337908|PMID:33443927|PMID:33477601|PMID:34275736|PMID:34355501|PMID:3563970|PMID:35809055|PMID:35853369|PMID:37583269|PMID:4002201|PMID:6654188|PMID:6886002|PMID:7635941|PMID:7654933 8740878 Fgg fibrinogen gamma chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:731481 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia PMID:10911375|PMID:11344575|PMID:15632207|PMID:1733971|PMID:2512677|PMID:25320241|PMID:25741868|PMID:2617471|PMID:29351094|PMID:2971042|PMID:2976995|PMID:31064749|PMID:32877852|PMID:3337908|PMID:33443927|PMID:34275736|PMID:34355501|PMID:3563970|PMID:4002201|PMID:6654188|PMID:6886002|PMID:7635941|PMID:7654933 8740878 Fgg fibrinogen gamma chain gene DOID:9005372 Inflammation treatment ISO RGD:2613 D RGD:9068941 20200609 RGD PMID:11490095|REF_RGD_ID:11352805 8740878 Fgg fibrinogen gamma chain gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2613 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:21685370|REF_RGD_ID:7175292 8740878 Fgg fibrinogen gamma chain gene DOID:9007096 Stroke susceptibility ISO RGD:731481 D RGD:9068941 20200609 RGD DNA:SNP:promoter:902A>G (rs1800792) (human) PMID:18278190|REF_RGD_ID:5688760 8740878 Fgg fibrinogen gamma chain gene DOID:9008217 Hemorrhage ISO RGD:731481 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868 8740878 Fgg fibrinogen gamma chain gene DOID:9008691 Liver Injury ISO RGD:2613 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:26314240|REF_RGD_ID:11352697 8740878 Fgg fibrinogen gamma chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:731481 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 8740878 Fgg fibrinogen gamma chain gene DOID:9477 pulmonary embolism ISO RGD:2613 D RGD:9068941 20200609 RGD protein:increased expression:blood microparticle PMID:22014850|REF_RGD_ID:5688769 8740878 Fgg fibrinogen gamma chain gene DOID:9538 multiple myeloma treatment ISO RGD:731481 D RGD:9068941 20200609 RGD PMID:22348216|REF_RGD_ID:11040544 8740878 Fgg fibrinogen gamma chain gene DOID:9970 obesity ISO RGD:2613 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:22134356|REF_RGD_ID:11352709 8740903 Tmem164 transmembrane protein 164 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8740903 Tmem164 transmembrane protein 164 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1604569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis PMID:21681106|PMID:27811305|PMID:28089922 8740903 Tmem164 transmembrane protein 164 gene DOID:12849 autistic disorder ISO RGD:1604569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8740903 Tmem164 transmembrane protein 164 gene DOID:5419 schizophrenia ISO RGD:1604569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8740903 Tmem164 transmembrane protein 164 gene DOID:630 genetic disease ISO RGD:1604569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740903 Tmem164 transmembrane protein 164 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8740920 LOC102009376 olfactory receptor 13J1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1347486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8740920 LOC102009376 olfactory receptor 13J1 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1347486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8740920 LOC102009376 olfactory receptor 13J1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1347486 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8740920 LOC102009376 olfactory receptor 13J1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1347486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8740920 LOC102009376 olfactory receptor 13J1 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1347486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8740920 LOC102009376 olfactory receptor 13J1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1347486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8740920 LOC102009376 olfactory receptor 13J1 gene DOID:630 genetic disease ISO RGD:1347486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740920 LOC102009376 olfactory receptor 13J1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347486 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8740920 LOC102009376 olfactory receptor 13J1 gene DOID:9870 galactosemia ISO RGD:1347486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8740923 Rtn1 reticulon 1 gene DOID:630 genetic disease ISO RGD:732399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740923 Rtn1 reticulon 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8740940 Ccar1 cell division cycle and apoptosis regulator 1 gene DOID:630 genetic disease ISO RGD:1345566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740972 Cfap263 cilia and flagella associated protein 263 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8740972 Cfap263 cilia and flagella associated protein 263 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8740972 Cfap263 cilia and flagella associated protein 263 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8740972 Cfap263 cilia and flagella associated protein 263 gene DOID:630 genetic disease ISO RGD:1606018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740987 Gbp5 guanylate binding protein 5 gene DOID:10608 celiac disease ISO RGD:1322285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8740987 Gbp5 guanylate binding protein 5 gene DOID:630 genetic disease ISO RGD:1322285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8740987 Gbp5 guanylate binding protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8741006 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8741006 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1604889 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8741006 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8741006 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604889 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8741006 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8741006 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604889 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8741006 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:1826 epilepsy ISO RGD:1604889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8741006 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:630 genetic disease ISO RGD:1604889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741006 Stpg3 sperm-tail PG-rich repeat containing 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1604889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8741016 Man1a1 mannosidase alpha class 1A member 1 gene DOID:1059 intellectual disability ISO RGD:1322054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8741016 Man1a1 mannosidase alpha class 1A member 1 gene DOID:10907 microcephaly ISO RGD:1322054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8741016 Man1a1 mannosidase alpha class 1A member 1 gene DOID:1826 epilepsy ISO RGD:1322054 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8741016 Man1a1 mannosidase alpha class 1A member 1 gene DOID:630 genetic disease ISO RGD:1322054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741016 Man1a1 mannosidase alpha class 1A member 1 gene DOID:9000495 Tremor ISO RGD:1322054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:0080874 primary ovarian insufficiency 17 ISO RGD:1349181 D RGD:7240710 20210113 OMIM 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:0080874 primary ovarian insufficiency 17 ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 17 PMID:30042186|PMID:30489636|PMID:33194656 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:0111085 Fanconi anemia complementation group U ISO RGD:1349181 D RGD:7240710 20190315 OMIM 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:0111085 Fanconi anemia complementation group U ISO RGD:1349181 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group U PMID:11118202|PMID:19690184|PMID:22232082|PMID:22464251|PMID:23054243|PMID:23383274|PMID:25637381|PMID:25741868|PMID:25918678|PMID:26046366|PMID:26467025|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28767289|PMID:28779002|PMID:28864920|PMID:30306255|PMID:32832836|PMID:32860008|PMID:33471991 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:0112272 spermatogenic failure 50 ISO RGD:1349181 D RGD:7240710 20210113 OMIM 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:0112272 spermatogenic failure 50 ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 50 PMID:30042186|PMID:30489636|PMID:33194656 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:12849 autistic disorder ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:1793 pancreatic cancer ISO RGD:1349181 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs3218536 (human) PMID:16540687|REF_RGD_ID:2317365 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:1793 pancreatic cancer ISO RGD:1349181 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R188H (human) PMID:17986315|REF_RGD_ID:2317507 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:219 colon cancer ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:23054243|PMID:25637381|PMID:25741868|PMID:27233470|PMID:28492532|PMID:28767289 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:2843 long QT syndrome ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:28492532 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:3459 breast carcinoma ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25330149|PMID:25452441|PMID:26681312|PMID:26845104|PMID:28492532|PMID:30322717|PMID:31463769 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349181 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:29255180|PMID:32566746 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:630 genetic disease ISO RGD:1349181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:9002620 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction PMID:11118202|PMID:22232082|PMID:26046366|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:30306255|PMID:32832836 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11118202|PMID:12455067|PMID:15855896|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29739106|PMID:29915322|PMID:30306255|PMID:30322717|PMID:31159747|PMID:31463769|PMID:9536098 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11118202|PMID:12455067|PMID:15855896|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29739106|PMID:29915322|PMID:30306255|PMID:30322717|PMID:31463769|PMID:9536098 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11118202|PMID:12455067|PMID:15855896|PMID:17557904|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31463769|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33471991|PMID:3471991|PMID:36113475|PMID:9536098 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349181 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:11118202|PMID:12455067|PMID:15855896|PMID:16199547|PMID:17557904|PMID:17576681|PMID:22232082|PMID:22464251|PMID:22481871|PMID:23054243|PMID:23383274|PMID:25330149|PMID:25452441|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:27208205|PMID:27233470|PMID:28135048|PMID:28486781|PMID:28492532|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28864920|PMID:28912153|PMID:29255180|PMID:29641532|PMID:29739106|PMID:29915322|PMID:30042186|PMID:30306255|PMID:30322717|PMID:30489636|PMID:30613976|PMID:31159747|PMID:31463769|PMID:31779681|PMID:31911633|PMID:32235514|PMID:32658311|PMID:32832836|PMID:32860008|PMID:33194656|PMID:33471991|PMID:33558524|PMID:3471991|PMID:36113475|PMID:36672847|PMID:9536098 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1349181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12023982 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:9256 colorectal cancer ISO RGD:1349181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532 8741032 Xrcc2 X-ray repair cross complementing 2 gene DOID:9256 colorectal cancer ISO RGD:1349181 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:32235514 8741063 Vwa2 von Willebrand factor A domain containing 2 gene DOID:9620 vesicoureteral reflux ISO RGD:1603244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:29351342 8741095 Adprh ADP-ribosylarginine hydrolase gene DOID:0080600 COVID-19 ISO RGD:732427 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8741095 Adprh ADP-ribosylarginine hydrolase gene DOID:630 genetic disease ISO RGD:732427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741095 Adprh ADP-ribosylarginine hydrolase gene DOID:9007702 Carcinogenesis ISO RGD:10094 D RGD:9068941 20200609 RGD PMID:21697277|REF_RGD_ID:13838723 8741120 Gc GC vitamin D binding protein gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid: PMID:20093204|REF_RGD_ID:5509869 8741120 Gc GC vitamin D binding protein gene DOID:10591 pre-eclampsia ISO RGD:736902 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:32682061|REF_RGD_ID:401901078 8741120 Gc GC vitamin D binding protein gene DOID:11446 sciatic neuropathy ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:nerve PMID:15509515|REF_RGD_ID:2316214 8741120 Gc GC vitamin D binding protein gene DOID:12205 dengue disease ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19845402|REF_RGD_ID:5509870 8741120 Gc GC vitamin D binding protein gene DOID:12361 Graves' disease ISO RGD:736902 D RGD:9068941 20210521 CTD CTD Direct Evidence: marker/mechanism PMID:12050214 8741120 Gc GC vitamin D binding protein gene DOID:12361 Graves' disease susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.T420K(human) PMID:16868893|REF_RGD_ID:5509883 8741120 Gc GC vitamin D binding protein gene DOID:12361 Graves' disease susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:12050214|REF_RGD_ID:5509886 8741120 Gc GC vitamin D binding protein gene DOID:1289 neurodegenerative disease ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:19000909|REF_RGD_ID:5509872 8741120 Gc GC vitamin D binding protein gene DOID:13141 uveitis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD associated with Spondylitis, Ankylosing;DNA:SNP: :rs4752(human) PMID:21844150|REF_RGD_ID:5509918 8741120 Gc GC vitamin D binding protein gene DOID:13413 hepatic encephalopathy ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11510020 8741120 Gc GC vitamin D binding protein gene DOID:13413 hepatic encephalopathy ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:11521994|REF_RGD_ID:5509929 8741120 Gc GC vitamin D binding protein gene DOID:14115 toxic shock syndrome ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17852808 8741120 Gc GC vitamin D binding protein gene DOID:1586 rheumatic fever ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:2737695|REF_RGD_ID:5509933 8741120 Gc GC vitamin D binding protein gene DOID:2316 brain ischemia ISO RGD:2667 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:11239198|REF_RGD_ID:1625796 8741120 Gc GC vitamin D binding protein gene DOID:2377 multiple sclerosis ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25590278 8741120 Gc GC vitamin D binding protein gene DOID:2377 multiple sclerosis ISO RGD:736902 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:18807170|REF_RGD_ID:5509923 8741120 Gc GC vitamin D binding protein gene DOID:2377 multiple sclerosis ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19324981|REF_RGD_ID:5509922 8741120 Gc GC vitamin D binding protein gene DOID:2377 multiple sclerosis no_association ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:SNPs:exon:p.T420K, D416E(human) PMID:12044990|REF_RGD_ID:5509887 8741120 Gc GC vitamin D binding protein gene DOID:2377 multiple sclerosis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:12137326|REF_RGD_ID:5509885 8741120 Gc GC vitamin D binding protein gene DOID:2841 asthma ISO RGD:10624 D RGD:9068941 20200609 RGD PMID:21169467|REF_RGD_ID:5509920 8741120 Gc GC vitamin D binding protein gene DOID:2841 asthma ISO RGD:736902 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:bronchoalveolar lavage fluid: PMID:21169467|REF_RGD_ID:5509920 8741120 Gc GC vitamin D binding protein gene DOID:289 endometriosis severity ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:18334925|REF_RGD_ID:5509874 8741120 Gc GC vitamin D binding protein gene DOID:3021 acute kidney failure ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8741120 Gc GC vitamin D binding protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:9517617|REF_RGD_ID:5509932 8741120 Gc GC vitamin D binding protein gene DOID:5082 liver cirrhosis ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 8741120 Gc GC vitamin D binding protein gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:2883392|REF_RGD_ID:5509934 8741120 Gc GC vitamin D binding protein gene DOID:5419 schizophrenia ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 8741120 Gc GC vitamin D binding protein gene DOID:630 genetic disease ISO RGD:736902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741120 Gc GC vitamin D binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:2667 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21683810|REF_RGD_ID:5509919 8741120 Gc GC vitamin D binding protein gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs7041(human) PMID:25541958|REF_RGD_ID:14402025 8741120 Gc GC vitamin D binding protein gene DOID:7148 rheumatoid arthritis ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3874814 8741120 Gc GC vitamin D binding protein gene DOID:7148 rheumatoid arthritis ISO RGD:736902 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:9548303|REF_RGD_ID:5509931 8741120 Gc GC vitamin D binding protein gene DOID:848 arthritis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD associated with Spondylitis, Ankylosing;DNA:SNPs: :rs222016, rs222020,rs3733359(human) PMID:21844150|REF_RGD_ID:5509918 8741120 Gc GC vitamin D binding protein gene DOID:8577 ulcerative colitis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.T420K(human) PMID:21832969|REF_RGD_ID:5509866 8741120 Gc GC vitamin D binding protein gene DOID:8778 Crohn's disease susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.T420K(human) PMID:21832969|REF_RGD_ID:5509866 8741120 Gc GC vitamin D binding protein gene DOID:8947 diabetic retinopathy ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:vitreous body PMID:16080911|REF_RGD_ID:2315548 8741120 Gc GC vitamin D binding protein gene DOID:9000888 Pregnancy in Diabetics ISO RGD:2667 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:3948765|REF_RGD_ID:2315537 8741120 Gc GC vitamin D binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8741120 Gc GC vitamin D binding protein gene DOID:9001600 Wounds and Injuries ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17852808 8741120 Gc GC vitamin D binding protein gene DOID:9001600 Wounds and Injuries treatment ISO RGD:2667 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24263389|REF_RGD_ID:11041807 8741120 Gc GC vitamin D binding protein gene DOID:9002278 Metabolic Bone Diseases ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 8741120 Gc GC vitamin D binding protein gene DOID:9004086 AIDS Dementia Complex ISO RGD:736902 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:cerebrospinal fluid: PMID:17929958|REF_RGD_ID:5509882 8741120 Gc GC vitamin D binding protein gene DOID:9004257 Pneumonia, Ventilator-Associated ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar fluid: PMID:21136918|REF_RGD_ID:5509873 8741120 Gc GC vitamin D binding protein gene DOID:9004590 Acute Liver Failure ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17852808|PMID:8666322 8741120 Gc GC vitamin D binding protein gene DOID:9005172 Lung Neoplasms ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17902193 8741120 Gc GC vitamin D binding protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2667 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:3838933|REF_RGD_ID:2315540 8741120 Gc GC vitamin D binding protein gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:16868893|REF_RGD_ID:5509883 8741120 Gc GC vitamin D binding protein gene DOID:9006182 Carotid Artery Injuries ISO RGD:2667 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21416056|REF_RGD_ID:5509868 8741120 Gc GC vitamin D binding protein gene DOID:9006359 Vitamin D Deficiency ISO RGD:736902 D RGD:9068941 20231130 RGD DNA:SNP:CDS:rs2282679) (human) PMID:31814925|REF_RGD_ID:401901168 8741120 Gc GC vitamin D binding protein gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8741120 Gc GC vitamin D binding protein gene DOID:9006956 nephrotoxicity treatment ISO RGD:2667 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8741120 Gc GC vitamin D binding protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8741120 Gc GC vitamin D binding protein gene DOID:9007651 Chronic Bronchitis susceptibility ISO RGD:736902 D RGD:9068941 20200609 RGD PMID:12096683|REF_RGD_ID:5129516 8741120 Gc GC vitamin D binding protein gene DOID:9351 diabetes mellitus ISO RGD:736902 D RGD:9068941 20200609 RGD protein:increased expression:ascitic fluid PMID:20054029|REF_RGD_ID:5509921 8741120 Gc GC vitamin D binding protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:736902 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D416E(human) PMID:11239517|REF_RGD_ID:2315558 8741138 Cacng8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:10939 antisocial personality disorder ISO RGD:732323 D RGD:9068941 20220825 MouseDO 8741138 Cacng8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:732322 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:left ventricule: PMID:26710323|REF_RGD_ID:11353143 8741138 Cacng8 calcium voltage-gated channel auxiliary subunit gamma 8 gene DOID:630 genetic disease ISO RGD:732322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741147 Trim36 tripartite motif containing 36 gene DOID:0060668 anencephaly ISO RGD:1318648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:28087737 8741147 Trim36 tripartite motif containing 36 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8741147 Trim36 tripartite motif containing 36 gene DOID:12849 autistic disorder ISO RGD:1318648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8741147 Trim36 tripartite motif containing 36 gene DOID:630 genetic disease ISO RGD:1318648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741147 Trim36 tripartite motif containing 36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8741147 Trim36 tripartite motif containing 36 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8741147 Trim36 tripartite motif containing 36 gene DOID:9009020 Anencephaly 1 ISO RGD:1318648 D RGD:7240710 20210728 OMIM 8741147 Trim36 tripartite motif containing 36 gene DOID:9009020 Anencephaly 1 ISO RGD:1318648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anencephaly 1 PMID:25741868 8741178 Nmt1 N-myristoyltransferase 1 gene DOID:630 genetic disease ISO RGD:1352076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741204 Synpr synaptoporin gene DOID:630 genetic disease ISO RGD:731737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741213 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8741213 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1321777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8741213 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8741213 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8741213 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8741213 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8741213 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0111934 immunodeficiency 38 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8741213 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:0111935 immunodeficiency 16 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8741213 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:630 genetic disease ISO RGD:1321777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741213 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8741213 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1321777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8741213 Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1321777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8741246 Sharpin SHANK associated RH domain interactor gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1603608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8741246 Sharpin SHANK associated RH domain interactor gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1603608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8741246 Sharpin SHANK associated RH domain interactor gene DOID:2723 dermatitis ISO RGD:1603608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19650867 8741246 Sharpin SHANK associated RH domain interactor gene DOID:3310 atopic dermatitis ISO RGD:1549996 D RGD:9068941 20220825 MouseDO OMIM:603165 8741246 Sharpin SHANK associated RH domain interactor gene DOID:4621 holoprosencephaly ISO RGD:1603608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8741246 Sharpin SHANK associated RH domain interactor gene DOID:630 genetic disease ISO RGD:1603608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741246 Sharpin SHANK associated RH domain interactor gene DOID:9001371 Eosinophilia ISO RGD:1603608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19650867 8741262 Styxl2 serine/threonine/tyrosine interacting like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8741262 Styxl2 serine/threonine/tyrosine interacting like 2 gene DOID:630 genetic disease ISO RGD:1603599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741262 Styxl2 serine/threonine/tyrosine interacting like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8741297 Fam78b family with sequence similarity 78 member B gene DOID:1540 parathyroid carcinoma ISO RGD:1604229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8741297 Fam78b family with sequence similarity 78 member B gene DOID:630 genetic disease ISO RGD:1604229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741297 Fam78b family with sequence similarity 78 member B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8741306 Rtn3 reticulon 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8741306 Rtn3 reticulon 3 gene DOID:1059 intellectual disability ISO RGD:1349287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8741306 Rtn3 reticulon 3 gene DOID:630 genetic disease ISO RGD:1349287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741319 Rbbp8 RB binding protein 8, endonuclease gene DOID:0050569 Seckel syndrome ISO RGD:1317354 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:28492532 8741319 Rbbp8 RB binding protein 8, endonuclease gene DOID:0070013 Seckel syndrome 2 ISO RGD:1317354 D RGD:7240710 20180130 OMIM 8741319 Rbbp8 RB binding protein 8, endonuclease gene DOID:0070013 Seckel syndrome 2 ISO RGD:1317354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 2 PMID:11781686|PMID:16199547|PMID:18414213|PMID:24389050|PMID:25741868|PMID:27848944|PMID:28492532 8741319 Rbbp8 RB binding protein 8, endonuclease gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1317354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 8741319 Rbbp8 RB binding protein 8, endonuclease gene DOID:0080600 COVID-19 ISO RGD:1317354 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8741319 Rbbp8 RB binding protein 8, endonuclease gene DOID:1059 intellectual disability ISO RGD:1317354 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8741319 Rbbp8 RB binding protein 8, endonuclease gene DOID:10907 microcephaly ISO RGD:1317354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8741319 Rbbp8 RB binding protein 8, endonuclease gene DOID:4905 pancreatic carcinoma ISO RGD:1317354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:28492532|PMID:9811458 8741319 Rbbp8 RB binding protein 8, endonuclease gene DOID:630 genetic disease ISO RGD:1317354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32379725|PMID:9536098 8741319 Rbbp8 RB binding protein 8, endonuclease gene DOID:9008107 Microcephaly with Mental Retardation and Digital Anomalies ISO RGD:1317354 D RGD:7240710 20180130 OMIM 8741319 Rbbp8 RB binding protein 8, endonuclease gene DOID:9008107 Microcephaly with Mental Retardation and Digital Anomalies ISO RGD:1317354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jawad syndrome PMID:18071751|PMID:21998596|PMID:24389050|PMID:25741868|PMID:27848944|PMID:28492532|PMID:32379725 8741319 Rbbp8 RB binding protein 8, endonuclease gene DOID:9538 multiple myeloma exacerbates ISO RGD:1317354 D RGD:9068941 20240104 RGD mRNA:increased expression:bone marrow, plasma cell (human) PMID:30622325|REF_RGD_ID:401940173 8741357 Nrxn2 neurexin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21424692 8741357 Nrxn2 neurexin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735901 D RGD:9068941 20220825 MouseDO 8741357 Nrxn2 neurexin 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 8741357 Nrxn2 neurexin 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8741357 Nrxn2 neurexin 2 gene DOID:1059 intellectual disability ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8741357 Nrxn2 neurexin 2 gene DOID:12849 autistic disorder ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8741357 Nrxn2 neurexin 2 gene DOID:1826 epilepsy ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8741357 Nrxn2 neurexin 2 gene DOID:3070 high grade glioma ISO RGD:735900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8741357 Nrxn2 neurexin 2 gene DOID:630 genetic disease ISO RGD:735900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8741413 Coq7 coenzyme Q7, hydroxylase gene DOID:0060859 salmonellosis susceptibility ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:23166727|REF_RGD_ID:10402105 8741413 Coq7 coenzyme Q7, hydroxylase gene DOID:0070245 primary coenzyme Q10 deficiency 8 ISO RGD:737189 D RGD:7240710 20190315 OMIM 8741413 Coq7 coenzyme Q7, hydroxylase gene DOID:0070245 primary coenzyme Q10 deficiency 8 ISO RGD:737189 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary coenzyme Q10 deficiency 8 PMID:25741868|PMID:26084283|PMID:28409910|PMID:28492532|PMID:30369941|PMID:31240163|PMID:32963807|PMID:33215859|PMID:35094435|PMID:35782625|PMID:36454683|PMID:36758993|PMID:37077559|PMID:37170631|PMID:37392700 8741413 Coq7 coenzyme Q7, hydroxylase gene DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 ISO RGD:737189 D RGD:7240710 20231025 OMIM 8741413 Coq7 coenzyme Q7, hydroxylase gene DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 ISO RGD:737189 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 9 PMID:28492532|PMID:36454683|PMID:36758993|PMID:37077559|PMID:37392700 8741413 Coq7 coenzyme Q7, hydroxylase gene DOID:224 transient cerebral ischemia severity ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:20170652|REF_RGD_ID:10402096 8741413 Coq7 coenzyme Q7, hydroxylase gene DOID:630 genetic disease ISO RGD:737189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8741413 Coq7 coenzyme Q7, hydroxylase gene DOID:890 mitochondrial encephalomyopathy ISO RGD:10379 D RGD:9068941 20200609 RGD protein:decreased expression:heart (mouse) PMID:23255162|REF_RGD_ID:10402107 8741413 Coq7 coenzyme Q7, hydroxylase gene DOID:9002644 Premature Aging ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:19478076|REF_RGD_ID:10402088 8741413 Coq7 coenzyme Q7, hydroxylase gene DOID:9003690 Carcinoma, Lewis Lung susceptibility ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:23166727|REF_RGD_ID:10402105 8741413 Coq7 coenzyme Q7, hydroxylase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2381 D RGD:9068941 20200609 RGD associated with Hypertension;protein:altered expression:heart PMID:17130255|REF_RGD_ID:2313649 8741413 Coq7 coenzyme Q7, hydroxylase gene DOID:9007346 Cachexia susceptibility ISO RGD:10379 D RGD:9068941 20200609 RGD PMID:23166727|REF_RGD_ID:10402105 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345647 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:16199547|PMID:23329068|PMID:23453664|PMID:23959892|PMID:24009516|PMID:24033266|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:26025130|PMID:28099038|PMID:28492532|PMID:29344583|PMID:36655009|PMID:37392813 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1345647 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29344583|PMID:30523342|PMID:9536098 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0070020 autosomal dominant dyskeratosis congenita 4 ISO RGD:1345647 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 4 PMID:23329068|PMID:23453664|PMID:23959892|PMID:25326637|PMID:25607374|PMID:25741868|PMID:27128385|PMID:28099038|PMID:28104920|PMID:28492532|PMID:28495916|PMID:28930861|PMID:29146883|PMID:29344583|PMID:30523160|PMID:31785789 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1345647 D RGD:7240710 20180130 OMIM 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1345647 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:16199547|PMID:17576681|PMID:19461895|PMID:19822871|PMID:23329068|PMID:23453664|PMID:23591994|PMID:23692823|PMID:23729807|PMID:23829372|PMID:23959892|PMID:24009516|PMID:24033266|PMID:24582487|PMID:25047097|PMID:25099625|PMID:25182133|PMID:25326637|PMID:25607374|PMID:25620558|PMID:25640679|PMID:25741868|PMID:25848748|PMID:26022962|PMID:26025130|PMID:26136524|PMID:26808564|PMID:26847928|PMID:27128385|PMID:27415407|PMID:27418648|PMID:27540018|PMID:27779742|PMID:27824607|PMID:28099038|PMID:28104920|PMID:28192371|PMID:28492532|PMID:28495692|PMID:28495916|PMID:28507545|PMID:28930861|PMID:28979815|PMID:29146883|PMID:29296694|PMID:29344583|PMID:29361909|PMID:29891356|PMID:29981437|PMID:30088779|PMID:30303537|PMID:30462709|PMID:30523160|PMID:30523342|PMID:30995915|PMID:31268371|PMID:31677132|PMID:31785789|PMID:32662942|PMID:33718801|PMID:34021146|PMID:34298581|PMID:36622818|PMID:36655009|PMID:37392813|PMID:9536098 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0070025 X-linked dyskeratosis congenita ISO RGD:1345647 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked | ClinVar Annotator: match by term: Zinsser-Cole-Engman Syndrome PMID:17576681|PMID:23959892|PMID:25741868|PMID:26847928|PMID:28492532|PMID:9536098 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345647 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs2297441|rs3208008 (human) PMID:31762827|REF_RGD_ID:152995257 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:10325 silicosis ISO RGD:1306721 D RGD:9068941 20220609 RGD mRNA:decreased expression:lung (rat) PMID:29230030|REF_RGD_ID:152977761 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:10907 microcephaly ISO RGD:1345647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:1324 lung cancer ameliorates ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs2738789 (human) PMID:27765928|REF_RGD_ID:152993553 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:1324 lung cancer susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs7261546|rs6062299|rs3787098 (human) PMID:27765928|REF_RGD_ID:152993553 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:1909 melanoma ISO RGD:1345647 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs75691080 (human) PMID:25231748|REF_RGD_ID:152995261 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1345647 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:19461895|PMID:23329068|PMID:23453664|PMID:23829372|PMID:23959892|PMID:24009516|PMID:24033266|PMID:24582487|PMID:25047097|PMID:25099625|PMID:25326637|PMID:25607374|PMID:25620558|PMID:25741868|PMID:25848748|PMID:26022962|PMID:26025130|PMID:26136524|PMID:26808564|PMID:27128385|PMID:27415407|PMID:27418648|PMID:27824607|PMID:28099038|PMID:28104920|PMID:28492532|PMID:28495916|PMID:28507545|PMID:28930861|PMID:28979815|PMID:29146883|PMID:29296694|PMID:29344583|PMID:29361909|PMID:29891356|PMID:29981437|PMID:30303537|PMID:30462709|PMID:30523160|PMID:30523342|PMID:30995915|PMID:31268371|PMID:31785789|PMID:33718801|PMID:34021146|PMID:34298581|PMID:36622818|PMID:36655009|PMID:37392813|PMID:9536098 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:3070 high grade glioma ISO RGD:1345647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578366|PMID:19578367 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:3079 childhood astrocytic tumor ameliorates ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human) PMID:26014354|REF_RGD_ID:152985535 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:3079 childhood astrocytic tumor susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs4809324 (human) PMID:26014354|REF_RGD_ID:152985535 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:3083 chronic obstructive pulmonary disease ameliorates ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs4809324 (human) PMID:28360516|REF_RGD_ID:152985694 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:amplification:cds: (human) PMID:27366209|REF_RGD_ID:152995256 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1345647 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:16199547|PMID:23329068|PMID:23453664|PMID:23959892|PMID:24033266|PMID:25047097|PMID:25326637|PMID:25607374|PMID:25741868|PMID:25848748|PMID:27128385|PMID:27540018|PMID:28099038|PMID:28104920|PMID:28192371|PMID:28492532|PMID:28495916|PMID:28930861|PMID:29146883|PMID:29344583|PMID:29361909|PMID:30523160|PMID:31785789|PMID:36655009|PMID:37392813 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:5076 mixed glioma susceptibility ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNPs:multiple:multiple (human) PMID:30462709|REF_RGD_ID:152977767 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:630 genetic disease ISO RGD:1345647 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23453664|PMID:23591994|PMID:23959892|PMID:24009516|PMID:24033266|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:26025130|PMID:26847928|PMID:28492532|PMID:29344583|PMID:30088779|PMID:30523342|PMID:30995915|PMID:31268371|PMID:9536098 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:9000528 Coronary Disease ameliorates ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs6010620|rs4809324 (human) PMID:30623606|REF_RGD_ID:152985693 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1345647 D RGD:9068941 20220609 RGD DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) PMID:23959892|REF_RGD_ID:152977765 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1345647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1345647 D RGD:7240710 20180130 OMIM 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1345647 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 PMID:14534157|PMID:16199547|PMID:17576681|PMID:19822871|PMID:23329068|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24009516|PMID:24033266|PMID:24130156|PMID:24582487|PMID:25047097|PMID:25099625|PMID:25326637|PMID:25607374|PMID:25620558|PMID:25741868|PMID:25848748|PMID:26022962|PMID:26025130|PMID:26136524|PMID:26847928|PMID:27128385|PMID:27779742|PMID:28099038|PMID:28104920|PMID:28492532|PMID:28495916|PMID:28930861|PMID:28979815|PMID:29146883|PMID:29296694|PMID:29344583|PMID:30462709|PMID:30523160|PMID:30523342|PMID:30995915|PMID:31785789|PMID:33718801|PMID:9536098 8741444 Rtel1 regulator of telomere elongation helicase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1345647 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:16199547|PMID:23453664|PMID:23959892|PMID:25607374|PMID:25741868|PMID:28492532 8741495 Rhoj ras homolog family member J gene DOID:0050700 cardiomyopathy ISO RGD:1321483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 8741495 Rhoj ras homolog family member J gene DOID:630 genetic disease ISO RGD:1321483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741495 Rhoj ras homolog family member J gene DOID:9002928 Colonic Neoplasms ISO RGD:1321483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8741504 Wnt8b Wnt family member 8B gene DOID:10487 Hirschsprung's disease ISO RGD:1316953 D RGD:9068941 20200609 RGD PMID:20972907|REF_RGD_ID:12801434 8741504 Wnt8b Wnt family member 8B gene DOID:630 genetic disease ISO RGD:1316953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:620512 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:24782632|REF_RGD_ID:14694831 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0080600 COVID-19 ISO RGD:733877 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:733877 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HADHA-related condition | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11243734|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12809642|PMID:12971428|PMID:14630990|PMID:14694500|PMID:15902556|PMID:16040264|PMID:16199547|PMID:17143551|PMID:17576681|PMID:18408953|PMID:19433283|PMID:19852779|PMID:2019931|PMID:20583174|PMID:20659813|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22065858|PMID:22459206|PMID:23430857|PMID:23798014|PMID:23868323|PMID:24033266|PMID:24305961|PMID:25087612|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:27014569|PMID:27117294|PMID:27491397|PMID:28492532|PMID:28515471|PMID:28559085|PMID:29095929|PMID:29124685|PMID:29268767|PMID:29519241|PMID:30626930|PMID:30682426|PMID:31589614|PMID:31980526|PMID:32778825|PMID:32827528|PMID:32860008|PMID:34878152|PMID:35281663|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098|PMID:9739053 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:733877 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:25260493|REF_RGD_ID:10047114 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:630 genetic disease ISO RGD:733877 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10352164|PMID:10518281|PMID:11773547|PMID:14630990|PMID:15902556|PMID:18408953|PMID:19852779|PMID:20583174|PMID:20814823|PMID:21103935|PMID:21549624|PMID:23430857|PMID:23868323|PMID:24033266|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:27117294|PMID:27491397|PMID:28492532|PMID:30682426|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:9003853|PMID:9266371 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:8398 osteoarthritis ISO RGD:733877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:620512 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:11124150|REF_RGD_ID:1599884 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733877 D RGD:7240710 20180130 OMIM 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733877 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10234607|PMID:10352164|PMID:10518281|PMID:11243734|PMID:11773547|PMID:11855930|PMID:12237653|PMID:12442268|PMID:12809642|PMID:12971428|PMID:14630990|PMID:14694500|PMID:15902556|PMID:16040264|PMID:16199547|PMID:17143551|PMID:17576681|PMID:18408953|PMID:19433283|PMID:19852779|PMID:2019931|PMID:20583174|PMID:20659813|PMID:20814823|PMID:21103935|PMID:21549624|PMID:22030098|PMID:22065858|PMID:22459206|PMID:23430857|PMID:23798014|PMID:23868323|PMID:24033266|PMID:24305961|PMID:25087612|PMID:25525159|PMID:25741868|PMID:25888220|PMID:26024122|PMID:26109258|PMID:26653362|PMID:27014569|PMID:27117294|PMID:27491397|PMID:28492532|PMID:28515471|PMID:28559085|PMID:29095929|PMID:29124685|PMID:29268767|PMID:29519241|PMID:30626930|PMID:30682426|PMID:30934865|PMID:31589614|PMID:31980526|PMID:32778825|PMID:32827528|PMID:33638202|PMID:34878152|PMID:35281663|PMID:35433174|PMID:7738175|PMID:7811722|PMID:7846063|PMID:8739956|PMID:8770876|PMID:8865274|PMID:9003853|PMID:9266371|PMID:9536098|PMID:9739053 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552757 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:25260493|REF_RGD_ID:10047114 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:733877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9008729 Mitochondrial Trifunctional Protein Deficiency 1 ISO RGD:733877 D RGD:7240710 20230505 OMIM 8741513 Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha gene DOID:9452 steatotic liver disease ISO RGD:733877 D RGD:9068941 20200609 RGD DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015 PMID:7846063|REF_RGD_ID:1599882 8741540 Ccdc166 coiled-coil domain containing 166 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:5134207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8741540 Ccdc166 coiled-coil domain containing 166 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:5134207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8741540 Ccdc166 coiled-coil domain containing 166 gene DOID:4621 holoprosencephaly ISO RGD:5134207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8741540 Ccdc166 coiled-coil domain containing 166 gene DOID:630 genetic disease ISO RGD:5134207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0050160 inhalation anthrax disease_progression ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:21124994|REF_RGD_ID:5135283 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:28824718|REF_RGD_ID:27095887 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,serum PMID:25048951|REF_RGD_ID:27095890 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis severity ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:25048951|REF_RGD_ID:27095890 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1550709 D RGD:9068941 20200618 RGD PMID:19626487|PMID:19906920|REF_RGD_ID:27095957|REF_RGD_ID:4891446 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 ISO RGD:1352024 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 severity ISO RGD:1352024 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080600 COVID-19 severity ISO RGD:1352024 D RGD:9068941 20230302 RGD PMID:32427582|REF_RGD_ID:30309200 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:1550709 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0081267 graft-versus-host disease ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:intestine, liver, lung PMID:19218194|REF_RGD_ID:5135435 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:0081292 traumatic brain injury treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:26435412|REF_RGD_ID:27095897 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:10247 pleurisy ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:14527170|REF_RGD_ID:5135449 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:10459 common cold ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15764644|REF_RGD_ID:5135489 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:10533 viral pneumonia ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:17655904|REF_RGD_ID:5135437 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:10608 celiac disease ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:11394 adult respiratory distress syndrome ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:9288136|REF_RGD_ID:2311389 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:12236 primary biliary cholangitis ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:18624292|REF_RGD_ID:5135483 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1287 cardiovascular system disease ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:13141 uveitis ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:16505038|REF_RGD_ID:2311384 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:9834133|REF_RGD_ID:5135492 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:17550373|REF_RGD_ID:5135438 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:13580 cholestasis ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Chronic Hepatitis C; protein:increased expression:serum: PMID:30507970|REF_RGD_ID:27095896 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:13949 interstitial cystitis ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18957084 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:14004 thoracic aortic aneurysm severity ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:16014397|REF_RGD_ID:5135442 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:14095 boutonneuse fever ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:14507644|REF_RGD_ID:5135450 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1520 colon carcinoma treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:30381616|REF_RGD_ID:27095891 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1591 renovascular hypertension ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:17062848|REF_RGD_ID:2311383 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1883 hepatitis C ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18775023|REF_RGD_ID:27095893 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1883 hepatitis C disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:24668726|REF_RGD_ID:27095945 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:1883 hepatitis C treatment ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:25512630|REF_RGD_ID:27095943 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2043 hepatitis B disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-201G>A(human) PMID:18325387|REF_RGD_ID:27095959 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2316 brain ischemia ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2316 brain ischemia ISO RGD:620209 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:17549754|REF_RGD_ID:2311381 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2799 bronchiolitis obliterans ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12097412|REF_RGD_ID:5135451 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2799 bronchiolitis obliterans ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:12097412|PMID:16709871|REF_RGD_ID:5135441|REF_RGD_ID:5135451 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2841 asthma ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16602032|PMID:17302903|REF_RGD_ID:5135439|REF_RGD_ID:5135457 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2841 asthma ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:11994485|REF_RGD_ID:5135452 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2917 cryoglobulinemia ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with hepatitis C; protein:increased expression:serum PMID:18775023|REF_RGD_ID:27095893 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17052299|REF_RGD_ID:5135440 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352024 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550709 D RGD:9068941 20200619 RGD mRNA, protein: increased expression, altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550709 D RGD:9068941 20200619 RGD protein:increased expression:lung (mouse) PMID:20231782|REF_RGD_ID:30309216 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352024 D RGD:9068941 20200619 RGD mRNA, protein:increased expression:plasma, lung (human) PMID:16195357|REF_RGD_ID:30309218 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352024 D RGD:9068941 20200619 RGD mRNA, protein:increased expression:serum, lung (human) PMID:15657466|REF_RGD_ID:30309219 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352024 D RGD:9068941 20200619 RGD protein:increased expression:lung (human) PMID:17129463|REF_RGD_ID:30309217 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1550709 D RGD:9068941 20200618 RGD mRNA:increased expression:lung (mouse) PMID:32365944|REF_RGD_ID:30309207 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1352024 D RGD:9068941 20200702 RGD PMID:15781938|PMID:15865221|REF_RGD_ID:30309220|REF_RGD_ID:33769580 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1550709 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:29843631|REF_RGD_ID:27095956 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:3082 interstitial lung disease ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:19816001|REF_RGD_ID:5135305 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:3082 interstitial lung disease ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19565490|REF_RGD_ID:5135306 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:17925429|REF_RGD_ID:5135436 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:326 ischemia ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16709871|REF_RGD_ID:5135441 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:3310 atopic dermatitis ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:3454 brain infarction ISO RGD:620209 D RGD:9068941 20230216 RGD protein:increased expression:brain (rat) PMID:19895873|REF_RGD_ID:2325193 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:3525 middle cerebral artery infarction ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:10825390|REF_RGD_ID:632989 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:418 systemic scleroderma ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:21049277|REF_RGD_ID:5135284 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:418 systemic scleroderma ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21303517|REF_RGD_ID:5135279 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:4247 coronary restenosis ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14578618|REF_RGD_ID:1598500 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:437 myasthenia gravis ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:15843529|REF_RGD_ID:1598501 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:5082 liver cirrhosis ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11418676|REF_RGD_ID:27095892 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:29105936|REF_RGD_ID:27095953 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:5082 liver cirrhosis severity ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Chronic Hepatitis B; PMID:28067328|REF_RGD_ID:27095955 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:27246604|REF_RGD_ID:14995461 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:552 pneumonia ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:15265940|REF_RGD_ID:5135445 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:552 pneumonia ISO RGD:1550709 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;mRNA:increased expression:lung PMID:14979941|REF_RGD_ID:5135491 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:576 proteinuria ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:16382022|REF_RGD_ID:2311386 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:630 genetic disease ISO RGD:1352024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:6713 cerebrovascular disease ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:28592115|REF_RGD_ID:27095889 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:27245433|REF_RGD_ID:27095899 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:28638480|REF_RGD_ID:27095898 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:820 myocarditis ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:15322218|REF_RGD_ID:1598502 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA:increased expression:alveolar macrophage PMID:15725351|REF_RGD_ID:5135490 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:14991597|REF_RGD_ID:5135448 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:874 bacterial pneumonia ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:15618188|REF_RGD_ID:5135459 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:874 bacterial pneumonia severity ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:16299319|REF_RGD_ID:5135458 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:8947 diabetic retinopathy ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:17194635|REF_RGD_ID:2311361 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:19170890|REF_RGD_ID:2311365 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9000238 Acute-On-Chronic Liver Failure susceptibility ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with liver cirrhosis; PMID:29105936|REF_RGD_ID:27095953 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9000998 Brain Injuries ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9001488 Human Influenza ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1550709 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:18041715|REF_RGD_ID:27095942 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:19073786|REF_RGD_ID:2311357 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:17425653|REF_RGD_ID:2311359 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1550709 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21273392|REF_RGD_ID:5683877 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002395 Hypothermia ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:16469832|REF_RGD_ID:2311385 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9003617 Carrington Syndrome ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15956791|REF_RGD_ID:5135443 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004009 Reperfusion Injury ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:16709871|REF_RGD_ID:5135441 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004009 Reperfusion Injury ISO RGD:1550709 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;protein:increased expression:lung PMID:19433855|REF_RGD_ID:5135307 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004009 Reperfusion Injury ISO RGD:620209 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18589091|REF_RGD_ID:2311376 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:31127759|REF_RGD_ID:27095949 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004283 Transplant Rejection severity ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:28245475|REF_RGD_ID:27095950 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:23227188|REF_RGD_ID:27095895 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet PMID:17372021|REF_RGD_ID:2311360 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1352024 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9006618 Liver Metastasis treatment ISO RGD:1550709 D RGD:9068941 20200609 RGD associated with colon carcinoma; PMID:30381616|REF_RGD_ID:27095891 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20561238|REF_RGD_ID:5135493 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9006928 Viral Bronchiolitis ISO RGD:620209 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:12909590|REF_RGD_ID:2311388 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9007102 Myocardial Ischemia ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11739529 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: peripheral blood mononuclear cell,serum, sinusoidal endothelium PMID:18234638|REF_RGD_ID:27095951 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:30660173|REF_RGD_ID:27095888 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:15843529|PMID:19232748|REF_RGD_ID:1598501|REF_RGD_ID:2311364 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9009049 Foot Ulcer ISO RGD:1352024 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:19509015|REF_RGD_ID:2311355 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9146 visceral leishmaniasis ISO RGD:1550709 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16239557|REF_RGD_ID:27095947 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352024 D RGD:9068941 20200609 RGD PMID:19187771|REF_RGD_ID:2311356 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9452 steatotic liver disease ISO RGD:1352024 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,serum PMID:25048951|REF_RGD_ID:27095890 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9588 encephalitis ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:18405324|REF_RGD_ID:2311377 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9675 pulmonary emphysema ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:lung, lymphocyte PMID:15526056|REF_RGD_ID:4892104 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19046227|REF_RGD_ID:2311358 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1550709 D RGD:9068941 20200609 RGD PMID:16148094|REF_RGD_ID:2311363 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:620209 D RGD:9068941 20200609 RGD PMID:16339582|REF_RGD_ID:2311362 8741554 Cxcl10 C-X-C motif chemokine ligand 10 gene DOID:986 alopecia areata ISO RGD:1352024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22358057 8741563 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8741563 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8741563 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0080690 RASopathy ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8741563 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8741563 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8741563 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8741563 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:733741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8741563 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:5419 schizophrenia ISO RGD:733741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8741563 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:630 genetic disease ISO RGD:733741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741563 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8741563 Grik4 glutamate ionotropic receptor kainate type subunit 4 gene DOID:9007661 Dwarfism ISO RGD:733741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8741591 Znf395 zinc finger protein 395 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1317282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8741591 Znf395 zinc finger protein 395 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1317282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8741591 Znf395 zinc finger protein 395 gene DOID:630 genetic disease ISO RGD:1317282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741608 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:1459 hypothyroidism ISO RGD:1303049 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum PMID:10582581|REF_RGD_ID:11522362 8741608 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:6000 congestive heart failure ISO RGD:1303049 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart, mitochondrion PMID:24395194|REF_RGD_ID:13464132 8741608 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:6000 congestive heart failure ISO RGD:1343038 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:25022898|REF_RGD_ID:13464131 8741608 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:630 genetic disease ISO RGD:1343038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741608 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:9003936 Cardiomegaly ISO RGD:1303049 D RGD:9068941 20200609 RGD protein:decreased expression:left ventricle myocardium PMID:25022898|REF_RGD_ID:13464131 8741608 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:9003936 Cardiomegaly ISO RGD:1551718 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:25022898|REF_RGD_ID:13464131 8741608 Tomm70 translocase of outer mitochondrial membrane 70 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1303049 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:23255365|REF_RGD_ID:13463486 8741632 Mcat malonyl-CoA-acyl carrier protein transacylase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1607045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8741632 Mcat malonyl-CoA-acyl carrier protein transacylase gene DOID:1059 intellectual disability ISO RGD:1607045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8741632 Mcat malonyl-CoA-acyl carrier protein transacylase gene DOID:630 genetic disease ISO RGD:1607045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741632 Mcat malonyl-CoA-acyl carrier protein transacylase gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1607045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8741632 Mcat malonyl-CoA-acyl carrier protein transacylase gene DOID:9006410 Optic Atrophy 15 ISO RGD:1607045 D RGD:7240710 20231206 OMIM 8741632 Mcat malonyl-CoA-acyl carrier protein transacylase gene DOID:9006410 Optic Atrophy 15 ISO RGD:1607045 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Optic atrophy 15 PMID:33918393 8741645 Nlgn2 neuroligin 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:732705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8741645 Nlgn2 neuroligin 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:732705 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8741645 Nlgn2 neuroligin 2 gene DOID:1059 intellectual disability ISO RGD:732705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8741645 Nlgn2 neuroligin 2 gene DOID:11446 sciatic neuropathy ISO RGD:621118 D RGD:9068941 20200609 RGD mRNA:decreased expression:sciatic nerve PMID:17492651|REF_RGD_ID:9831149 8741645 Nlgn2 neuroligin 2 gene DOID:12177 common variable immunodeficiency ISO RGD:732705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8741645 Nlgn2 neuroligin 2 gene DOID:1824 status epilepticus ISO RGD:621118 D RGD:9068941 20200609 RGD PMID:22539981|REF_RGD_ID:9831126 8741645 Nlgn2 neuroligin 2 gene DOID:2729 dyskeratosis congenita ISO RGD:732705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8741645 Nlgn2 neuroligin 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8741645 Nlgn2 neuroligin 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:732705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8741645 Nlgn2 neuroligin 2 gene DOID:5419 schizophrenia ISO RGD:732706 D RGD:9068941 20220825 MouseDO OMIM:181500 8741645 Nlgn2 neuroligin 2 gene DOID:630 genetic disease ISO RGD:732705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8741645 Nlgn2 neuroligin 2 gene DOID:9002211 Hyperalgesia ISO RGD:621118 D RGD:9068941 20200609 RGD PMID:23891900|REF_RGD_ID:9831150 8741657 Etv3l ETS variant transcription factor 3 like gene DOID:1540 parathyroid carcinoma ISO RGD:1603450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8741657 Etv3l ETS variant transcription factor 3 like gene DOID:630 genetic disease ISO RGD:1603450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741657 Etv3l ETS variant transcription factor 3 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8741690 Asb11 ankyrin repeat and SOCS box containing 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8741690 Asb11 ankyrin repeat and SOCS box containing 11 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1344351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 8741690 Asb11 ankyrin repeat and SOCS box containing 11 gene DOID:12849 autistic disorder ISO RGD:1344351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8741690 Asb11 ankyrin repeat and SOCS box containing 11 gene DOID:13636 Fanconi anemia ISO RGD:1344351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8741690 Asb11 ankyrin repeat and SOCS box containing 11 gene DOID:630 genetic disease ISO RGD:1344351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741690 Asb11 ankyrin repeat and SOCS box containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8741711 Crispld1 cysteine rich secretory protein LCCL domain containing 1 gene DOID:630 genetic disease ISO RGD:1605927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741730 Spata24 spermatogenesis associated 24 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:3005862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8741730 Spata24 spermatogenesis associated 24 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:3005862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8741730 Spata24 spermatogenesis associated 24 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:3005862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8741730 Spata24 spermatogenesis associated 24 gene DOID:630 genetic disease ISO RGD:3005862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8741730 Spata24 spermatogenesis associated 24 gene DOID:9003318 Keratoconus 1 ISO RGD:3005862 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Keratoconus 1 8741730 Spata24 spermatogenesis associated 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3005862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8741730 Spata24 spermatogenesis associated 24 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:3005862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8741746 Ranbp3 RAN binding protein 3 gene DOID:630 genetic disease ISO RGD:1313698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741787 Catsper1 cation channel sperm associated 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8741787 Catsper1 cation channel sperm associated 1 gene DOID:0070173 spermatogenic failure 7 ISO RGD:1321252 D RGD:7240710 20180130 OMIM 8741787 Catsper1 cation channel sperm associated 1 gene DOID:0070173 spermatogenic failure 7 ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 7 PMID:19344877|PMID:20301780|PMID:21255775|PMID:24442342|PMID:25741868|PMID:28492532 8741787 Catsper1 cation channel sperm associated 1 gene DOID:1059 intellectual disability ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8741787 Catsper1 cation channel sperm associated 1 gene DOID:12336 male infertility ISO RGD:1321252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 8741787 Catsper1 cation channel sperm associated 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8741787 Catsper1 cation channel sperm associated 1 gene DOID:2746 glycogen storage disease V ISO RGD:1321252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8741787 Catsper1 cation channel sperm associated 1 gene DOID:630 genetic disease ISO RGD:1321252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741787 Catsper1 cation channel sperm associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321252 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8741787 Catsper1 cation channel sperm associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8741810 Dnmt3l DNA methyltransferase 3 like gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1343645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 8741810 Dnmt3l DNA methyltransferase 3 like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8741810 Dnmt3l DNA methyltransferase 3 like gene DOID:0110266 cataract 9 multiple types ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8741810 Dnmt3l DNA methyltransferase 3 like gene DOID:12849 autistic disorder ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8741810 Dnmt3l DNA methyltransferase 3 like gene DOID:630 genetic disease ISO RGD:1343645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741810 Dnmt3l DNA methyltransferase 3 like gene DOID:8456 choline deficiency disease ISO RGD:1303239 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:17724018|REF_RGD_ID:9588267 8741810 Dnmt3l DNA methyltransferase 3 like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8741810 Dnmt3l DNA methyltransferase 3 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8741810 Dnmt3l DNA methyltransferase 3 like gene DOID:9263 homocystinuria ISO RGD:1343645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8741810 Dnmt3l DNA methyltransferase 3 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343645 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8741825 Calml4 calmodulin like 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8741825 Calml4 calmodulin like 4 gene DOID:2717 Bloom syndrome ISO RGD:1344788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8741825 Calml4 calmodulin like 4 gene DOID:630 genetic disease ISO RGD:1344788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741825 Calml4 calmodulin like 4 gene DOID:9256 colorectal cancer ISO RGD:1344788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0050632 oculocutaneous albinism ISO RGD:1352949 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:10987646|PMID:12876664|PMID:16199547|PMID:18036783|PMID:18463683|PMID:19060277|PMID:19865097|PMID:20861488|PMID:21541274|PMID:23504663|PMID:23824587|PMID:25741868|PMID:27734839|PMID:28041643|PMID:28224992|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30414346|PMID:31429209|PMID:32741191|PMID:33050356|PMID:33612058|PMID:34838614|PMID:7874125|PMID:8302318 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0060041 autism spectrum disorder ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1352949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1352949 D RGD:7240710 20180130 OMIM 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1352949 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: OCA2-related condition | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:10094567|PMID:10649493|PMID:10671067|PMID:10905897|PMID:10987646|PMID:11179026|PMID:11464238|PMID:12163334|PMID:12469324|PMID:12687678|PMID:12713581|PMID:12876664|PMID:15173252|PMID:15712365|PMID:15889046|PMID:15942220|PMID:16199547|PMID:17160937|PMID:17236130|PMID:17385796|PMID:17568986|PMID:17576681|PMID:1773534|PMID:17767372|PMID:17960121|PMID:18252222|PMID:18326704|PMID:18463683|PMID:18683130|PMID:18821858|PMID:19060277|PMID:19865097|PMID:20019752|PMID:20301410|PMID:20426782|PMID:20806075|PMID:20861488|PMID:21085994|PMID:21458243|PMID:21541274|PMID:22734612|PMID:23010199|PMID:23103111|PMID:23504663|PMID:23744323|PMID:23824587|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24845642|PMID:25060099|PMID:25412400|PMID:25455140|PMID:25513726|PMID:25741868|PMID:25741895|PMID:25809079|PMID:25919014|PMID:26165494|PMID:26474496|PMID:26818737|PMID:27231233|PMID:27468418|PMID:27734839|PMID:27887888|PMID:28041643|PMID:28224992|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28726809|PMID:28976636|PMID:29036293|PMID:29050284|PMID:29095814|PMID:29345414|PMID:29437493|PMID:30025130|PMID:30414346|PMID:30835348|PMID:31077556|PMID:31141302|PMID:31196117|PMID:31229681|PMID:31429209|PMID:31719542|PMID:31813138|PMID:32741191|PMID:32783370|PMID:32830442|PMID:33050356|PMID:33124154|PMID:33612058|PMID:33974259|PMID:34707637|PMID:34838614|PMID:35393538|PMID:37321975|PMID:37650133|PMID:7762554|PMID:7874125|PMID:7920637|PMID:8302318|PMID:8980282|PMID:9259203|PMID:9536098 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:11983 Prader-Willi syndrome ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:12849 autistic disorder ISO RGD:1352949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:13250 diarrhea ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:23010199|PMID:25741868|PMID:28492532|PMID:28667292 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A481T (rs74653330) (human) PMID:24617981|REF_RGD_ID:9491831 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:1932 Angelman syndrome ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:2513 basal cell carcinoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R419Q (rs1800407) (human) PMID:19384953|REF_RGD_ID:9491841 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:2513 basal cell carcinoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human) PMID:21270109|REF_RGD_ID:9491840 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:5419 schizophrenia ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:630 genetic disease ISO RGD:1352949 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094567|PMID:10649493|PMID:10671067|PMID:10905897|PMID:10987646|PMID:11464238|PMID:15712365|PMID:17385796|PMID:1773534|PMID:17960121|PMID:18326704|PMID:18463683|PMID:18683130|PMID:19865097|PMID:20019752|PMID:20301410|PMID:20861488|PMID:21541274|PMID:23010199|PMID:23504663|PMID:23744323|PMID:24033266|PMID:24518832|PMID:25513726|PMID:25741868|PMID:26165494|PMID:26474496|PMID:27231233|PMID:27468418|PMID:27734839|PMID:28041643|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29437493|PMID:31077556|PMID:31196117|PMID:32741191|PMID:32830442|PMID:34838614|PMID:37321975|PMID:8302318|PMID:8980282 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:8866 actinic keratosis susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A481T (rs74653330) (human) PMID:24617981|REF_RGD_ID:9491831 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:8923 skin melanoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H615R (rs1800414) (human) PMID:24617981|REF_RGD_ID:9491831 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:8923 skin melanoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:snp:cds:p.R419Q (rs1800407) (human) PMID:19710684|REF_RGD_ID:9491818 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:8923 skin melanoma susceptibility ISO RGD:1352949 D RGD:9068941 20200609 RGD DNA:snps:exon, intron:multiple (human) PMID:15889046|REF_RGD_ID:9491829 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1352949 D RGD:7240710 20180130 OMIM 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1352949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES PMID:10094567|PMID:10649493|PMID:10671067|PMID:10905897|PMID:10987646|PMID:11464238|PMID:12163334|PMID:12713581|PMID:12876664|PMID:15173252|PMID:15712365|PMID:15889046|PMID:16199547|PMID:17160937|PMID:17385796|PMID:17576681|PMID:1773534|PMID:17960121|PMID:18252222|PMID:18326704|PMID:18463683|PMID:18683130|PMID:18821858|PMID:19060277|PMID:19865097|PMID:20019752|PMID:20301410|PMID:20426782|PMID:20861488|PMID:21458243|PMID:21541274|PMID:22734612|PMID:23010199|PMID:23504663|PMID:23744323|PMID:23824587|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24641678|PMID:24845642|PMID:25412400|PMID:25455140|PMID:25513726|PMID:25741868|PMID:25741895|PMID:25919014|PMID:26165494|PMID:26474496|PMID:27231233|PMID:27468418|PMID:27734839|PMID:28041643|PMID:28224992|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29036293|PMID:29050284|PMID:29095814|PMID:29345414|PMID:29437493|PMID:30025130|PMID:30414346|PMID:30835348|PMID:31077556|PMID:31196117|PMID:31229681|PMID:31429209|PMID:31813138|PMID:32741191|PMID:32830442|PMID:33050356|PMID:33124154|PMID:33144682|PMID:33612058|PMID:33974259|PMID:34707637|PMID:34838614|PMID:37321975|PMID:7874125|PMID:8302318|PMID:8980282|PMID:9259203|PMID:9536098 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9001386 Albinism ISO RGD:1352949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Albinism PMID:19060277|PMID:23824587|PMID:25741868|PMID:27734839|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:32741191 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1352949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:10649493|PMID:12876664|PMID:18463683|PMID:20426782|PMID:20861488|PMID:22734612|PMID:23504663|PMID:23744323|PMID:24033266|PMID:24118800|PMID:24361966|PMID:24518832|PMID:24845642|PMID:25741868|PMID:26165494|PMID:27734839|PMID:28266639|PMID:28492532|PMID:31077556|PMID:31229681|PMID:7874125|PMID:8302318 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9004823 Brown Oculocutaneous Albinism ISO RGD:1352949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown oculocutaneous albinism PMID:11179026|PMID:17767372|PMID:7920637 8741852 Oca2 OCA2 melanosomal transmembrane protein gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1352949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26068938|PMID:26950270|PMID:28053010|PMID:28492532 8741885 Snx19 sorting nexin 19 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8741885 Snx19 sorting nexin 19 gene DOID:5419 schizophrenia ISO RGD:1604682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8741885 Snx19 sorting nexin 19 gene DOID:630 genetic disease ISO RGD:1604682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741885 Snx19 sorting nexin 19 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8741885 Snx19 sorting nexin 19 gene DOID:9007661 Dwarfism ISO RGD:1604682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8741908 Tas2r60 taste 2 receptor member 60 gene DOID:1909 melanoma ISO RGD:1347652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 8741908 Tas2r60 taste 2 receptor member 60 gene DOID:630 genetic disease ISO RGD:1347652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741911 Fut4 fucosyltransferase 4 gene DOID:0060903 thrombosis ISO RGD:1342617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16932337 8741911 Fut4 fucosyltransferase 4 gene DOID:1059 intellectual disability ISO RGD:1342617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8741911 Fut4 fucosyltransferase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1342617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8741911 Fut4 fucosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1342617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741917 Mvd mevalonate diphosphate decarboxylase gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:23910690|PMID:28492532 8741917 Mvd mevalonate diphosphate decarboxylase gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:736074 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8741917 Mvd mevalonate diphosphate decarboxylase gene DOID:14780 KBG syndrome ISO RGD:736074 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8741917 Mvd mevalonate diphosphate decarboxylase gene DOID:3805 porokeratosis ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Linear porokeratosis PMID:30942823|PMID:33005717 8741917 Mvd mevalonate diphosphate decarboxylase gene DOID:630 genetic disease ISO RGD:736074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741917 Mvd mevalonate diphosphate decarboxylase gene DOID:9000411 Porokeratosis 7, Multiple Types ISO RGD:736074 D RGD:7240710 20180130 OMIM 8741917 Mvd mevalonate diphosphate decarboxylase gene DOID:9000411 Porokeratosis 7, Multiple Types ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis 7, multiple types PMID:21161278|PMID:25741868|PMID:26202976 8741917 Mvd mevalonate diphosphate decarboxylase gene DOID:9000808 Hypercholesterolemia ISO RGD:736075 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25168180|REF_RGD_ID:13782271 8741917 Mvd mevalonate diphosphate decarboxylase gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:736074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8741949 Chrd chordin gene DOID:0111546 Currarino syndrome ISO RGD:1348275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8741949 Chrd chordin gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1348275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8741949 Chrd chordin gene DOID:11198 DiGeorge syndrome ISO RGD:1550370 D RGD:9068941 20220825 MouseDO OMIM:188400 8741949 Chrd chordin gene DOID:12583 velocardiofacial syndrome ISO RGD:1550370 D RGD:9068941 20220825 MouseDO OMIM:192430 8741949 Chrd chordin gene DOID:630 genetic disease ISO RGD:1348275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741988 Oprk1 opioid receptor kappa 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:69426 D RGD:9068941 20231026 RGD DNA, mRNA:hypomethylation, increased expression:ventral tegmental area, prefrontal cortex PMID:29678771|REF_RGD_ID:401851055 8741988 Oprk1 opioid receptor kappa 1 gene DOID:0050741 alcohol dependence ISO RGD:69478 D RGD:9068941 20231021 RGD DNA:SNPs:intron:multiple PMID:16924269|REF_RGD_ID:401850571 8741988 Oprk1 opioid receptor kappa 1 gene DOID:0050741 alcohol dependence ISO RGD:69478 D RGD:9068941 20231021 RGD mRNA:increased expression:orbitofrontal cortex PMID:21955155|REF_RGD_ID:401850584 8741988 Oprk1 opioid receptor kappa 1 gene DOID:0050741 alcohol dependence ISO RGD:69478 D RGD:9068941 20240229 RGD DNA:SNP,haplotype:multiple (multiple GGCTTCT) (human) PMID:17622222|REF_RGD_ID:401976552 8741988 Oprk1 opioid receptor kappa 1 gene DOID:0050741 alcohol dependence no_association ISO RGD:69478 D RGD:9068941 20231021 RGD DNA:SNP: :rs6473797 (human) PMID:24035285|REF_RGD_ID:401850579 8741988 Oprk1 opioid receptor kappa 1 gene DOID:0060001 withdrawal disorder ISO RGD:69426 D RGD:9068941 20231021 RGD mRNA:increased expression:bed nucleus of stria terminalis PMID:30075159|REF_RGD_ID:401850573 8741988 Oprk1 opioid receptor kappa 1 gene DOID:0060001 withdrawal disorder ISO RGD:69478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20232057|PMID:9463367 8741988 Oprk1 opioid receptor kappa 1 gene DOID:0060001 withdrawal disorder treatment ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:22515275|REF_RGD_ID:9834942 8741988 Oprk1 opioid receptor kappa 1 gene DOID:11206 opioid abuse ISO RGD:69478 D RGD:9068941 20231021 RGD mRNA:decreased expression:peripheral blood lymphocyte PMID:31710992|REF_RGD_ID:401850570 8741988 Oprk1 opioid receptor kappa 1 gene DOID:11206 opioid abuse severity ISO RGD:69478 D RGD:9068941 20240229 RGD DNA:SNP:CDS: rs997917|rs12548098|rs6473797|rs963549 (human) PMID:37146669|REF_RGD_ID:401976452 8741988 Oprk1 opioid receptor kappa 1 gene DOID:1574 alcohol use disorder ISO RGD:69426 D RGD:9068941 20240222 RGD associated with stress-related disorder; mRNA:decreased expression:dorsal striatum (rat) PMID:28511993|REF_RGD_ID:401976432 8741988 Oprk1 opioid receptor kappa 1 gene DOID:1574 alcohol use disorder no_association ISO RGD:69478 D RGD:9068941 20231021 RGD DNA:SNP: :rs997917 (human) PMID:37177778|REF_RGD_ID:401850581 8741988 Oprk1 opioid receptor kappa 1 gene DOID:1574 alcohol use disorder severity ISO RGD:69478 D RGD:9068941 20231012 RGD DNA:SNP, haplotype: :rs6473797 (human) PMID:31004399|REF_RGD_ID:401831037 8741988 Oprk1 opioid receptor kappa 1 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:69478 D RGD:9068941 20231021 RGD DNA:SNP: :rs6473797 (human) PMID:37177778|REF_RGD_ID:401850581 8741988 Oprk1 opioid receptor kappa 1 gene DOID:1596 depressive disorder severity ISO RGD:69478 D RGD:9068941 20231021 RGD associated with alcohol use disorder;DNA:SNP: :rs963549 (human) PMID:37177778|REF_RGD_ID:401850581 8741988 Oprk1 opioid receptor kappa 1 gene DOID:2559 opiate dependence ISO RGD:69478 D RGD:9068941 20240229 RGD DNA:SNP,haplotype:multiple (multiple GGCTTCT) (human) PMID:17622222|REF_RGD_ID:401976552 8741988 Oprk1 opioid receptor kappa 1 gene DOID:2559 opiate dependence no_association ISO RGD:69478 D RGD:9068941 20231021 RGD DNA:SNP: :rs702764 (human) PMID:28656735|REF_RGD_ID:401850580 8741988 Oprk1 opioid receptor kappa 1 gene DOID:5419 schizophrenia ISO RGD:69478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8741988 Oprk1 opioid receptor kappa 1 gene DOID:5844 myocardial infarction ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:15076225|REF_RGD_ID:9831425 8741988 Oprk1 opioid receptor kappa 1 gene DOID:6000 congestive heart failure ISO RGD:69426 D RGD:9068941 20231109 RGD mRNA, protein:increased expression:left heart ventricle PMID:26365878|REF_RGD_ID:401900132 8741988 Oprk1 opioid receptor kappa 1 gene DOID:630 genetic disease ISO RGD:69478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:15076225|REF_RGD_ID:9831425 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69478 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16995444 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9000641 Pain ISO RGD:69478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9463367 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9001131 stress-related disorder ISO RGD:69426 D RGD:9068941 20240222 RGD mRNA:increased expression:dorsal striatum (rat) PMID:28511993|REF_RGD_ID:401976432 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:69426 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:16924480|REF_RGD_ID:9834947 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9002916 Hyperphagia ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:9808678|REF_RGD_ID:9831410 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9004354 Alcohol-Related Disorders treatment ISO RGD:69426 D RGD:9068941 20231026 RGD PMID:20962231|REF_RGD_ID:401850591 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18575850|PMID:20232055 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69426 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve, peroneal nerve: PMID:16924480|REF_RGD_ID:9834947 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9828 neonatal abstinence syndrome severity ISO RGD:69478 D RGD:9068941 20240314 RGD associated with maternal opioid abuse;DNA:SNP:intron (rs702764) (human) PMID:26233486|REF_RGD_ID:11079504 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9975 cocaine dependence ISO RGD:69478 D RGD:9068941 20231026 RGD DNA:SNPs:intron:rs6473797, rs10111937 PMID:34843875|REF_RGD_ID:401851040 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9976 heroin dependence ISO RGD:69426 D RGD:9068941 20200609 RGD PMID:24725195|REF_RGD_ID:9831447 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9976 heroin dependence treatment ISO RGD:69426 D RGD:9068941 20231026 RGD PMID:24305833|REF_RGD_ID:401850592 8741988 Oprk1 opioid receptor kappa 1 gene DOID:9976 heroin dependence treatment ISO RGD:69478 D RGD:9068941 20231012 RGD DNA:SNP: :rs3802279, rs3802281, and rs963549 (human) PMID:31940240|REF_RGD_ID:401827951 8741994 Traf3 TNF receptor associated factor 3 gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1312182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 8741994 Traf3 TNF receptor associated factor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1312182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532 8741994 Traf3 TNF receptor associated factor 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8741994 Traf3 TNF receptor associated factor 3 gene DOID:3070 high grade glioma ISO RGD:1312182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8741994 Traf3 TNF receptor associated factor 3 gene DOID:630 genetic disease ISO RGD:1312182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8741994 Traf3 TNF receptor associated factor 3 gene DOID:9001392 Herpes Simplex Encephalitis 3 ISO RGD:1312182 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: TRAF3 haploinsufficiency | ClinVar Annotator: match by term: TRAF3-related condition PMID:17576681|PMID:25741868|PMID:28492532|PMID:31681265|PMID:35960817|PMID:36004314|PMID:9536098 8741994 Traf3 TNF receptor associated factor 3 gene DOID:9001392 Herpes Simplex Encephalitis 3 susceptibility ISO RGD:1312182 D RGD:7240710 20190502 OMIM 8741994 Traf3 TNF receptor associated factor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1312182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8741994 Traf3 TNF receptor associated factor 3 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1312182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 8742025 LOC102005691 NKG2-D type II integral membrane protein gene DOID:630 genetic disease ISO RGD:7380820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742041 Nprl2 NPR2 like, GATOR1 complex subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 8742041 Nprl2 NPR2 like, GATOR1 complex subunit gene DOID:0081420 familial focal epilepsy with variable foci ISO RGD:1318978 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial focal epilepsy with variable foci PMID:25741868 8742041 Nprl2 NPR2 like, GATOR1 complex subunit gene DOID:0081421 familial focal epilepsy with variable foci 1 ISO RGD:1318978 D RGD:9068941 20240203 CTD CTD Direct Evidence: marker/mechanism 8742041 Nprl2 NPR2 like, GATOR1 complex subunit gene DOID:0081422 familial focal epilepsy with variable foci 2 ISO RGD:1318978 D RGD:7240710 20190315 OMIM 8742041 Nprl2 NPR2 like, GATOR1 complex subunit gene DOID:0081422 familial focal epilepsy with variable foci 2 ISO RGD:1318978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 | ClinVar Annotator: match by term: NPRL2-related condition PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085 8742041 Nprl2 NPR2 like, GATOR1 complex subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 8742041 Nprl2 NPR2 like, GATOR1 complex subunit gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1318978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868 8742041 Nprl2 NPR2 like, GATOR1 complex subunit gene DOID:1826 epilepsy ISO RGD:1318978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085 8742041 Nprl2 NPR2 like, GATOR1 complex subunit gene DOID:5419 schizophrenia ISO RGD:1318978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8742041 Nprl2 NPR2 like, GATOR1 complex subunit gene DOID:630 genetic disease ISO RGD:1318978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:28492532|PMID:30093711|PMID:31639411|PMID:33461085 8742041 Nprl2 NPR2 like, GATOR1 complex subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318978 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8742077 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8742077 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:736932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8742077 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:736932 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8742077 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8742077 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:736932 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8742077 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8742077 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8742077 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:630 genetic disease ISO RGD:736932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742077 Gmeb2 glucocorticoid modulatory element binding protein 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:736932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8742122 Rwdd4 RWD domain containing 4 gene DOID:630 genetic disease ISO RGD:1605847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742147 Dock9 dedicator of cytokinesis 9 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 8742147 Dock9 dedicator of cytokinesis 9 gene DOID:4621 holoprosencephaly ISO RGD:1348065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 8742147 Dock9 dedicator of cytokinesis 9 gene DOID:630 genetic disease ISO RGD:1348065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8742147 Dock9 dedicator of cytokinesis 9 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1348065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8742225 Inpp5b inositol polyphosphate-5-phosphatase B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1342739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8742225 Inpp5b inositol polyphosphate-5-phosphatase B gene DOID:630 genetic disease ISO RGD:1342739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742225 Inpp5b inositol polyphosphate-5-phosphatase B gene DOID:9007045 Dent Disease 2 ISO RGD:1342739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dent disease type 2 PMID:28018608 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:0050476 Barth syndrome ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349319 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349319 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1349319 D RGD:7240710 20180130 OMIM 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1349319 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome PMID:24011989|PMID:25741868|PMID:28492532|PMID:35887114 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:10003 sensorineural hearing loss ISO RGD:1349319 D RGD:9068941 20200609 RGD DNA:mutation, deletion:exon:p.Q33X (human) PMID:24011989|REF_RGD_ID:7483567 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:25741868|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:10907 microcephaly ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:12849 autistic disorder ISO RGD:1349319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:13628 favism ISO RGD:1349319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:2729 dyskeratosis congenita ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:607 paraplegia ISO RGD:1349319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:630 genetic disease ISO RGD:1349319 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10329713|PMID:17056546|PMID:18287538|PMID:24597975|PMID:25741868|PMID:28492532 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:9002720 Splenomegaly ISO RGD:1349319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8742257 Bcap31 B cell receptor associated protein 31 gene DOID:9008086 Developmental Disabilities ISO RGD:1349319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8742272 Vcp valosin containing protein gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8742272 Vcp valosin containing protein gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:731621 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17763460|PMID:18341608|PMID:18845250|PMID:19225410|PMID:19237541|PMID:19364651|PMID:19506019|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21320982|PMID:21387114|PMID:21822278|PMID:21920633|PMID:21984748|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23029473|PMID:23056506|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24829604|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25492614|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:26105173|PMID:26467025|PMID:26549226|PMID:26555887|PMID:27226613|PMID:27538664|PMID:27708273|PMID:27768726|PMID:27790088|PMID:28130640|PMID:28360103|PMID:28492532|PMID:28542158|PMID:28692196|PMID:29754758|PMID:29770363|PMID:30005904|PMID:30270202|PMID:30279455|PMID:30293881|PMID:31687228|PMID:31848255|PMID:31862442|PMID:32317127|PMID:32528171|PMID:33144514|PMID:34573259|PMID:36980948|PMID:7182974 8742272 Vcp valosin containing protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 8742272 Vcp valosin containing protein gene DOID:0060198 amyotrophic lateral sclerosis type 6 ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 PMID:30103325 8742272 Vcp valosin containing protein gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:731621 D RGD:7240710 20180130 OMIM 8742272 Vcp valosin containing protein gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:731621 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17576681|PMID:17622780|PMID:17763460|PMID:17889967|PMID:18341608|PMID:18845250|PMID:19208399|PMID:19225410|PMID:19237541|PMID:19364651|PMID:19506019|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21249466|PMID:21320982|PMID:21387114|PMID:21816654|PMID:21822278|PMID:21880997|PMID:21920633|PMID:21984748|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22572540|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23000505|PMID:23029473|PMID:23056506|PMID:23152587|PMID:23169451|PMID:23333620|PMID:23498975|PMID:23868359|PMID:24123792|PMID:24196964|PMID:24829604|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25492614|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:25878907|PMID:26105173|PMID:26467025|PMID:26511028|PMID:26549226|PMID:26555887|PMID:26627873|PMID:26809617|PMID:26853221|PMID:27165006|PMID:27209344|PMID:27226613|PMID:27538664|PMID:27708273|PMID:27768726|PMID:27790088|PMID:28130640|PMID:28360103|PMID:28492532|PMID:28542158|PMID:28692196|PMID:28709720|PMID:29033165|PMID:29127544|PMID:29754758|PMID:29770363|PMID:29899994|PMID:30005904|PMID:30103325|PMID:30103957|PMID:30270202|PMID:30279455|PMID:30293881|PMID:30488450|PMID:30955949|PMID:31687228|PMID:31848255|PMID:31862442|PMID:31914217|PMID:32028661|PMID:32036797|PMID:32317127|PMID:32481679|PMID:32528171|PMID:32579787|PMID:32671691|PMID:33144514|PMID:34573259|PMID:36980948|PMID:7182974|PMID:9536098 8742272 Vcp valosin containing protein gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8742272 Vcp valosin containing protein gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:731621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8742272 Vcp valosin containing protein gene DOID:0080719 congenital myopathy 6 ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 8742272 Vcp valosin containing protein gene DOID:0080942 anauxetic dysplasia ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8742272 Vcp valosin containing protein gene DOID:0110168 Charcot-Marie-Tooth disease type 2Y ISO RGD:731621 D RGD:7240710 20180130 OMIM 8742272 Vcp valosin containing protein gene DOID:0110168 Charcot-Marie-Tooth disease type 2Y ISO RGD:731621 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2Y | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2y PMID:15034582|PMID:19237541|PMID:21145000|PMID:21984748|PMID:22270372|PMID:22900631|PMID:23000505|PMID:23333620|PMID:23498975|PMID:24196964|PMID:25125609|PMID:25741868|PMID:25878907|PMID:26105173|PMID:26467025|PMID:27226613|PMID:27708273|PMID:28360103|PMID:28492532|PMID:28692196|PMID:29127544|PMID:30279455|PMID:32481679 8742272 Vcp valosin containing protein gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8742272 Vcp valosin containing protein gene DOID:0111086 Fanconi anemia complementation group G ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group G PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 8742272 Vcp valosin containing protein gene DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 ISO RGD:731621 D RGD:7240710 20190320 OMIM 8742272 Vcp valosin containing protein gene DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 ISO RGD:731621 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 PMID:15034582|PMID:16247064|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17763460|PMID:18341608|PMID:18845250|PMID:19225410|PMID:19237541|PMID:19364651|PMID:19506019|PMID:19704082|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21320982|PMID:21387114|PMID:21822278|PMID:21920633|PMID:21984748|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22686199|PMID:22898872|PMID:22900631|PMID:22909335|PMID:23029473|PMID:23056506|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24829604|PMID:25125609|PMID:25326637|PMID:25388089|PMID:25492614|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:26105173|PMID:26467025|PMID:26549226|PMID:26555887|PMID:27226613|PMID:27538664|PMID:27708273|PMID:27768726|PMID:27790088|PMID:28130640|PMID:28360103|PMID:28492532|PMID:28542158|PMID:28692196|PMID:29770363|PMID:30005904|PMID:30279455|PMID:30293881|PMID:31687228|PMID:31848255|PMID:31862442|PMID:32317127|PMID:32528171|PMID:33144514|PMID:34573259|PMID:7182974 8742272 Vcp valosin containing protein gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:731621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8742272 Vcp valosin containing protein gene DOID:1059 intellectual disability ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21387114|PMID:21920633|PMID:25617006|PMID:25741868|PMID:26467025|PMID:28492532 8742272 Vcp valosin containing protein gene DOID:10652 Alzheimer's disease ISO RGD:731621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:30279455 8742272 Vcp valosin containing protein gene DOID:12217 Lewy body dementia ISO RGD:731621 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:28492532 8742272 Vcp valosin containing protein gene DOID:1307 dementia ISO RGD:731621 D RGD:9068941 20200609 RGD IBMPFD, OMIM:167320 PMID:15034582|REF_RGD_ID:1599735 8742272 Vcp valosin containing protein gene DOID:13636 Fanconi anemia ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 8742272 Vcp valosin containing protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731621 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot disease PMID:15034582|PMID:18845250|PMID:20604808|PMID:22270372|PMID:22909335|PMID:23333620|PMID:25617006|PMID:25741868|PMID:28492532|PMID:33144514 8742272 Vcp valosin containing protein gene DOID:3429 inclusion body myositis ISO RGD:731621 D RGD:9068941 20200609 RGD IBMPFD, OMIM:167320 PMID:15034582|REF_RGD_ID:1599735 8742272 Vcp valosin containing protein gene DOID:5408 Paget's disease of bone ISO RGD:731621 D RGD:9068941 20200609 RGD IBMPFD, OMIM:167320 PMID:15034582|REF_RGD_ID:1599735 8742272 Vcp valosin containing protein gene DOID:607 paraplegia ISO RGD:731621 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15034582|PMID:18845250|PMID:20604808|PMID:22270372|PMID:22909335|PMID:23333620|PMID:25617006|PMID:25741868|PMID:28492532|PMID:33144514 8742272 Vcp valosin containing protein gene DOID:630 genetic disease ISO RGD:731621 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15034582|PMID:16321991|PMID:16790606|PMID:16984901|PMID:17329348|PMID:17576681|PMID:17935506|PMID:18341608|PMID:18845250|PMID:19237541|PMID:20008565|PMID:20104022|PMID:20512113|PMID:20604808|PMID:20957154|PMID:21145000|PMID:21387114|PMID:21822278|PMID:21880997|PMID:21920633|PMID:22078486|PMID:22137929|PMID:22270372|PMID:22686199|PMID:22898872|PMID:22909335|PMID:23029473|PMID:23169451|PMID:23333620|PMID:23498975|PMID:24196964|PMID:24838343|PMID:25125609|PMID:25388089|PMID:25617006|PMID:25618255|PMID:25741868|PMID:25775548|PMID:26467025|PMID:26853221|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28542158|PMID:30270202|PMID:30293881|PMID:31687228|PMID:33144514|PMID:9536098 8742272 Vcp valosin containing protein gene DOID:9000918 Disease Progression ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29693262 8742272 Vcp valosin containing protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29693262 8742272 Vcp valosin containing protein gene DOID:9005532 Muscle Weakness ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25884947 8742272 Vcp valosin containing protein gene DOID:9006205 Animal Disease Models ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25884947 8742272 Vcp valosin containing protein gene DOID:9006262 Cytomegalovirus Infections ISO RGD:731621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28494016 8742272 Vcp valosin containing protein gene DOID:9008086 Developmental Disabilities ISO RGD:731621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8742272 Vcp valosin containing protein gene DOID:9255 frontotemporal dementia ISO RGD:731622 D RGD:9068941 20220825 MouseDO OMIM:600274 8742272 Vcp valosin containing protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:731621 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8742272 Vcp valosin containing protein gene DOID:9870 galactosemia ISO RGD:731621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8742292 Vash2 vasohibin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8742292 Vash2 vasohibin 2 gene DOID:630 genetic disease ISO RGD:1602689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742292 Vash2 vasohibin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8742304 Vldlr very low density lipoprotein receptor gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISO RGD:733926 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: Dysequilibrium syndrome PMID:11913577|PMID:16080122|PMID:16199547|PMID:18043714|PMID:18326629|PMID:18364738|PMID:18414213|PMID:20301729|PMID:22532556|PMID:22700954|PMID:22973972|PMID:25741868|PMID:27000652|PMID:28492532 8742304 Vldlr very low density lipoprotein receptor gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:733926 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8742304 Vldlr very low density lipoprotein receptor gene DOID:0070338 cerebellar hypoplasia ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:18414213|PMID:25741868|PMID:28492532 8742304 Vldlr very low density lipoprotein receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:733926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 8742304 Vldlr very low density lipoprotein receptor gene DOID:0110014 age related macular degeneration 1 ISO RGD:733927 D RGD:9068941 20220825 MouseDO OMIM:603075 8742304 Vldlr very low density lipoprotein receptor gene DOID:1059 intellectual disability ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 8742304 Vldlr very low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:733926 D RGD:9068941 20200609 RGD DNA:repeat PMID:7550352|REF_RGD_ID:737739 8742304 Vldlr very low density lipoprotein receptor gene DOID:10907 microcephaly ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8742304 Vldlr very low density lipoprotein receptor gene DOID:1168 familial hyperlipidemia ISO RGD:733927 D RGD:9068941 20200609 RGD PMID:10985956|REF_RGD_ID:1625570 8742304 Vldlr very low density lipoprotein receptor gene DOID:1184 nephrotic syndrome ISO RGD:3963 D RGD:9068941 20200609 RGD protein:decreased expression:heart, skeletal muscle (rat) PMID:9186864|REF_RGD_ID:2324668 8742304 Vldlr very low density lipoprotein receptor gene DOID:12849 autistic disorder ISO RGD:733926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15820235 8742304 Vldlr very low density lipoprotein receptor gene DOID:12849 autistic disorder ISO RGD:733926 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebellum, Brodmann area 9 (human) PMID:15820235|REF_RGD_ID:2317973 8742304 Vldlr very low density lipoprotein receptor gene DOID:1307 dementia ISO RGD:733926 D RGD:9068941 20200609 RGD DNA:repeat PMID:11342683|REF_RGD_ID:737740 8742304 Vldlr very low density lipoprotein receptor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:3963 D RGD:9068941 20200609 RGD protein:decreased expression:adipose tissue, skeletal muscle (rat) PMID:11786096|REF_RGD_ID:2324671 8742304 Vldlr very low density lipoprotein receptor gene DOID:13938 amenorrhea ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8742304 Vldlr very low density lipoprotein receptor gene DOID:2349 arteriosclerosis ISO RGD:733927 D RGD:9068941 20200609 RGD PMID:10985956|REF_RGD_ID:1625570 8742304 Vldlr very low density lipoprotein receptor gene DOID:630 genetic disease ISO RGD:733926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27000652|PMID:28492532 8742304 Vldlr very low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:733927 D RGD:9068941 20200609 RGD PMID:8636110|REF_RGD_ID:1625573 8742304 Vldlr very low density lipoprotein receptor gene DOID:9002943 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 ISO RGD:733926 D RGD:7240710 20190327 OMIM 8742304 Vldlr very low density lipoprotein receptor gene DOID:9002943 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 ISO RGD:733926 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 PMID:11913577|PMID:16080122|PMID:16199547|PMID:18043714|PMID:18326629|PMID:18364738|PMID:18414213|PMID:20301729|PMID:22532556|PMID:22700954|PMID:22973972|PMID:25741868|PMID:27000652|PMID:28492532 8742304 Vldlr very low density lipoprotein receptor gene DOID:9003936 Cardiomegaly ISO RGD:3963 D RGD:9068941 20200609 RGD associated with Hypertension; mRNA:decreased expression:heart ventricle PMID:8603509|REF_RGD_ID:1625579 8742304 Vldlr very low density lipoprotein receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3963 D RGD:9068941 20200609 RGD protein:decreased expression:heart, skeletal muscle PMID:15878964|REF_RGD_ID:1625575 8742304 Vldlr very low density lipoprotein receptor gene DOID:9006534 Nervous System Malformations ISO RGD:733926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8742304 Vldlr very low density lipoprotein receptor gene DOID:9006599 Hypertriglyceridemia ISO RGD:3963 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;mRNA, protein:decreased expression:adipose tissue, skeletal muscle PMID:9507207|REF_RGD_ID:1625577 8742304 Vldlr very low density lipoprotein receptor gene DOID:9970 obesity ISO RGD:733926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 8742304 Vldlr very low density lipoprotein receptor gene DOID:9970 obesity susceptibility ISO RGD:733927 D RGD:9068941 20200609 RGD PMID:11557677|REF_RGD_ID:1625568 8742333 C1qtnf7 C1q and TNF related 7 gene DOID:630 genetic disease ISO RGD:1315898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1346107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1346107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1346107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0080600 COVID-19 ISO RGD:1346107 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:33307546 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1346107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0081013 severe COVID-19 ISO RGD:1346107 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:28492532 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0111975 immunodeficiency 44 ISO RGD:1346107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 44 PMID:25741868|PMID:26424569|PMID:28492532|PMID:33193576 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0111994 immunodeficiency 45 ISO RGD:1346107 D RGD:7240710 20240320 OMIM 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:0111994 immunodeficiency 45 ISO RGD:1346107 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Immunodeficiency 45 PMID:16757563|PMID:17576681|PMID:25741868|PMID:26424569|PMID:28492532|PMID:33193576|PMID:35442417|PMID:9536098 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:2043 hepatitis B ISO RGD:1346107 D RGD:7240710 20240320 OMIM 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:2043 hepatitis B ISO RGD:1346107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to PMID:16757563|PMID:25741868|PMID:28492532 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:630 genetic disease ISO RGD:1346107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8742346 Ifnar2 interferon alpha and beta receptor subunit 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:1346107 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:0050851 glomerulosclerosis susceptibility ISO RGD:621665 D RGD:9068941 20200609 RGD associated with Hypertension PMID:26606876|REF_RGD_ID:13524570 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:10763 hypertension ISO RGD:621665 D RGD:9068941 20200609 RGD PMID:17986358|REF_RGD_ID:2289116 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:10763 hypertension ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1798635 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:10763 hypertension ISO RGD:732361 D RGD:9068941 20200609 RGD PMID:14608379|REF_RGD_ID:13524579 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:11206 opioid abuse ISO RGD:621665 D RGD:9068941 20200609 RGD PMID:19664213|REF_RGD_ID:13524573 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:13548 secondary Parkinson disease ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18347610 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:1540 parathyroid carcinoma ISO RGD:732360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:365 bladder disease treatment ISO RGD:621665 D RGD:9068941 20200609 RGD associated with hypertension PMID:19689474|REF_RGD_ID:9684972 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:5082 liver cirrhosis ISO RGD:621665 D RGD:9068941 20200609 RGD PMID:19003918|REF_RGD_ID:10449440 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:630 genetic disease ISO RGD:732360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:724 female stress incontinence ISO RGD:621665 D RGD:9068941 20200609 RGD PMID:18372098|REF_RGD_ID:13524574 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:732360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8742361 Rgs2 regulator of G protein signaling 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8742383 Lrp1 LDL receptor related protein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1316787 D RGD:9068941 20220825 MouseDO 8742383 Lrp1 LDL receptor related protein 1 gene DOID:0050855 renal fibrosis ISO RGD:1316787 D RGD:9068941 20200609 RGD PMID:18037995|REF_RGD_ID:7243102 8742383 Lrp1 LDL receptor related protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316786 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8742383 Lrp1 LDL receptor related protein 1 gene DOID:0060327 omphalocele ISO RGD:1316787 D RGD:9068941 20220825 MouseDO OMIM:164750 8742383 Lrp1 LDL receptor related protein 1 gene DOID:0080169 tricuspid atresia ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tricuspid atresia PMID:25741868 8742383 Lrp1 LDL receptor related protein 1 gene DOID:0080751 keratosis pilaris atrophicans ISO RGD:1316786 D RGD:7240710 20190315 OMIM 8742383 Lrp1 LDL receptor related protein 1 gene DOID:0080756 atrophoderma vermiculata ISO RGD:1316786 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Atrophoderma vermiculata PMID:26142438 8742383 Lrp1 LDL receptor related protein 1 gene DOID:10283 prostate cancer ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8742383 Lrp1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316786 D RGD:9068941 20200609 RGD DNA:SNP:exon 3:C>T (human) PMID:9635959|REF_RGD_ID:1358747 8742383 Lrp1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316787 D RGD:9068941 20200609 RGD PMID:19150622|REF_RGD_ID:13800553 8742383 Lrp1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316787 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 8742383 Lrp1 LDL receptor related protein 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1307535 D RGD:9068941 20200609 RGD PMID:29115637|REF_RGD_ID:13799352 8742383 Lrp1 LDL receptor related protein 1 gene DOID:11044 gastroschisis ISO RGD:1316787 D RGD:9068941 20220825 MouseDO OMIM:230750 8742383 Lrp1 LDL receptor related protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1307535 D RGD:9068941 20200609 RGD PMID:26656067|REF_RGD_ID:13792690 8742383 Lrp1 LDL receptor related protein 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:1316786 D RGD:9068941 20200609 RGD PMID:18060043|REF_RGD_ID:13800561 8742383 Lrp1 LDL receptor related protein 1 gene DOID:12783 migraine without aura ISO RGD:1316786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 8742383 Lrp1 LDL receptor related protein 1 gene DOID:2349 arteriosclerosis ISO RGD:1316787 D RGD:9068941 20200609 RGD PMID:14739216|REF_RGD_ID:1581910 8742383 Lrp1 LDL receptor related protein 1 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:1316787 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:17303763|REF_RGD_ID:1625012 8742383 Lrp1 LDL receptor related protein 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1316787 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 8742383 Lrp1 LDL receptor related protein 1 gene DOID:5419 schizophrenia ISO RGD:1316786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 8742383 Lrp1 LDL receptor related protein 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1316786 D RGD:9068941 20200609 RGD PMID:12402342|REF_RGD_ID:1581913 8742383 Lrp1 LDL receptor related protein 1 gene DOID:630 genetic disease ISO RGD:1316786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8742383 Lrp1 LDL receptor related protein 1 gene DOID:6364 migraine ISO RGD:1316786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666692 8742383 Lrp1 LDL receptor related protein 1 gene DOID:6846 familial melanoma ISO RGD:1316786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8742383 Lrp1 LDL receptor related protein 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1307535 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14623925|REF_RGD_ID:1625030 8742383 Lrp1 LDL receptor related protein 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1307535 D RGD:9068941 20200609 RGD PMID:23867460|REF_RGD_ID:13800520 8742383 Lrp1 LDL receptor related protein 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1316786 D RGD:9068941 20200609 RGD PMID:15121769|REF_RGD_ID:1581911 8742383 Lrp1 LDL receptor related protein 1 gene DOID:9000847 Burnett Schwartz Berberian Syndrome ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratosis pilaris | ClinVar Annotator: match by term: Ulerythema ophryogenesis PMID:25741868|PMID:26142438|PMID:28381441 8742383 Lrp1 LDL receptor related protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1316787 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum, spinal cord PMID:19299462|REF_RGD_ID:13800552 8742383 Lrp1 LDL receptor related protein 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1316787 D RGD:9068941 20200609 RGD associated with Carbon Tetrachloride Poisoning PMID:26237273|REF_RGD_ID:13800515 8742383 Lrp1 LDL receptor related protein 1 gene DOID:9007748 Retinal Neovascularization ISO RGD:1307535 D RGD:9068941 20200609 RGD protein:increased expression:retina, muller cell PMID:16979164|REF_RGD_ID:1625022 8742383 Lrp1 LDL receptor related protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8742383 Lrp1 LDL receptor related protein 1 gene DOID:9008582 Developmental Disease ISO RGD:1316786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:15294142|PMID:25741868 8742383 Lrp1 LDL receptor related protein 1 gene DOID:9008735 Developmental Dysplasia of the Hip 3 ISO RGD:1316786 D RGD:7240710 20240131 OMIM 8742383 Lrp1 LDL receptor related protein 1 gene DOID:9008735 Developmental Dysplasia of the Hip 3 ISO RGD:1316786 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental dysplasia of the hip 3 PMID:36067312 8742383 Lrp1 LDL receptor related protein 1 gene DOID:9351 diabetes mellitus treatment ISO RGD:1307535 D RGD:9068941 20200609 RGD PMID:22889684|REF_RGD_ID:13800521 8742476 Tspan13 tetraspanin 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8742476 Tspan13 tetraspanin 13 gene DOID:630 genetic disease ISO RGD:1323423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742490 Dprx divergent-paired related homeobox gene DOID:630 genetic disease ISO RGD:1604883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742490 Dprx divergent-paired related homeobox gene DOID:9007661 Dwarfism ISO RGD:1604883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8742497 Arr3 arrestin 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8742497 Arr3 arrestin 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1350252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 8742497 Arr3 arrestin 3 gene DOID:12849 autistic disorder ISO RGD:1350252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8742497 Arr3 arrestin 3 gene DOID:1826 epilepsy ISO RGD:1350252 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8742497 Arr3 arrestin 3 gene DOID:630 genetic disease ISO RGD:1350252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742497 Arr3 arrestin 3 gene DOID:9009093 Myopia 26, X-Linked, Female-Limited ISO RGD:1350252 D RGD:7240710 20190315 OMIM 8742497 Arr3 arrestin 3 gene DOID:9009093 Myopia 26, X-Linked, Female-Limited ISO RGD:1350252 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ARR3-related condition | ClinVar Annotator: match by term: Myopia 26, X-linked, female-limited PMID:25741868|PMID:27829781|PMID:28492532|PMID:33482870 8742531 Mars2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0050942 spastic ataxia 3 ISO RGD:1349073 D RGD:7240710 20180130 OMIM 8742531 Mars2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0050942 spastic ataxia 3 ISO RGD:1349073 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ataxia, spastic, 3, autosomal recessive | ClinVar Annotator: match by term: Spastic ataxia 3 PMID:22448145|PMID:25741868|PMID:28492532 8742531 Mars2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0111468 combined oxidative phosphorylation deficiency 25 ISO RGD:1349073 D RGD:7240710 20180130 OMIM 8742531 Mars2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:0111468 combined oxidative phosphorylation deficiency 25 ISO RGD:1349073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 PMID:25741868|PMID:25754315 8742531 Mars2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1349073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8742531 Mars2 methionyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8742537 Il17c interleukin 17C gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1351651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8742537 Il17c interleukin 17C gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1351651 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8742537 Il17c interleukin 17C gene DOID:14780 KBG syndrome ISO RGD:1351651 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8742537 Il17c interleukin 17C gene DOID:630 genetic disease ISO RGD:1351651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742537 Il17c interleukin 17C gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8742543 Slitrk3 SLIT and NTRK like family member 3 gene DOID:1059 intellectual disability ISO RGD:1321448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8742543 Slitrk3 SLIT and NTRK like family member 3 gene DOID:630 genetic disease ISO RGD:1321448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742549 Wdr48 WD repeat domain 48 gene DOID:1561 cognitive disorder ISO RGD:1347511 D RGD:9068941 20230406 CTD CTD Direct Evidence: therapeutic PMID:36047109 8742549 Wdr48 WD repeat domain 48 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 8742549 Wdr48 WD repeat domain 48 gene DOID:630 genetic disease ISO RGD:1347511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742575 Pnma2 PNMA family member 2 gene DOID:630 genetic disease ISO RGD:1316357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742580 Cryba2 crystallin beta A2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8742580 Cryba2 crystallin beta A2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8742580 Cryba2 crystallin beta A2 gene DOID:0110237 cataract 42 ISO RGD:1343426 D RGD:7240710 20180130 OMIM 8742580 Cryba2 crystallin beta A2 gene DOID:0110237 cataract 42 ISO RGD:1343426 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: CRYBA2-related condition PMID:25741868 8742580 Cryba2 crystallin beta A2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8742580 Cryba2 crystallin beta A2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8742580 Cryba2 crystallin beta A2 gene DOID:630 genetic disease ISO RGD:1343426 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8742580 Cryba2 crystallin beta A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8742618 Pogk pogo transposable element derived with KRAB domain gene DOID:1540 parathyroid carcinoma ISO RGD:1319023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8742618 Pogk pogo transposable element derived with KRAB domain gene DOID:630 genetic disease ISO RGD:1319023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742618 Pogk pogo transposable element derived with KRAB domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8742636 Setd3 SET domain containing 3, actin N3(tau)-histidine methyltransferase gene DOID:630 genetic disease ISO RGD:1319950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742666 Mrps18c mitochondrial ribosomal protein S18C gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1317511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8742666 Mrps18c mitochondrial ribosomal protein S18C gene DOID:630 genetic disease ISO RGD:1317511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742682 Yeats2 YEATS domain containing 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1347752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8742682 Yeats2 YEATS domain containing 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1347752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8742682 Yeats2 YEATS domain containing 2 gene DOID:0111546 Currarino syndrome ISO RGD:1347752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8742682 Yeats2 YEATS domain containing 2 gene DOID:0111693 familial adult myoclonic epilepsy 4 ISO RGD:1347752 D RGD:7240710 20191225 OMIM 8742682 Yeats2 YEATS domain containing 2 gene DOID:0111693 familial adult myoclonic epilepsy 4 ISO RGD:1347752 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 PMID:25741868|PMID:28492532 8742682 Yeats2 YEATS domain containing 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1347752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8742682 Yeats2 YEATS domain containing 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347752 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 8742682 Yeats2 YEATS domain containing 2 gene DOID:630 genetic disease ISO RGD:1347752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742682 Yeats2 YEATS domain containing 2 gene DOID:9000918 Disease Progression ISO RGD:1347752 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:0050700 cardiomyopathy ISO RGD:733068 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16199547|PMID:16352453|PMID:17084280|PMID:18505755|PMID:19035361|PMID:20044516|PMID:20087448|PMID:20474083|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25351510|PMID:25611685|PMID:25741868|PMID:26656175|PMID:27532257|PMID:28492532|PMID:28790153|PMID:30012424|PMID:30847666|PMID:31737537|PMID:31919335|PMID:31983221|PMID:32697969|PMID:33012304|PMID:33035702|PMID:33495596|PMID:33495597|PMID:34426522|PMID:34495297|PMID:34558151|PMID:35626289|PMID:9039266 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:733068 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12642359|PMID:14567970|PMID:16199547|PMID:16352453|PMID:20087448|PMID:23396983|PMID:24033266|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:31737537|PMID:32697969|PMID:33035702|PMID:33495596|PMID:33495597|PMID:34495297|PMID:34558151 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:733068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:16352453|PMID:18505755|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:733068 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16352453|PMID:17097056|PMID:18505755|PMID:23299917|PMID:23396983|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:28790153|PMID:30012424|PMID:31737537|PMID:32697969|PMID:33035702|PMID:33495596|PMID:33495597|PMID:34426522|PMID:34495297 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:733068 D RGD:7240710 20180130 OMIM 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:733068 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 12 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16199547|PMID:16352453|PMID:17084280|PMID:17097056|PMID:17576681|PMID:18250163|PMID:18505755|PMID:19035361|PMID:19412328|PMID:20044516|PMID:20087448|PMID:20474083|PMID:21425739|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25351510|PMID:25611685|PMID:25741868|PMID:26656175|PMID:27353086|PMID:27532257|PMID:27650965|PMID:28492532|PMID:28750076|PMID:28790153|PMID:28878402|PMID:29247119|PMID:29544605|PMID:30012424|PMID:30021846|PMID:30048712|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:31919335|PMID:31983221|PMID:32344918|PMID:32492895|PMID:32697969|PMID:32746448|PMID:32789579|PMID:32880476|PMID:33012304|PMID:33035702|PMID:33297573|PMID:33495596|PMID:33495597|PMID:34426522|PMID:34495297|PMID:34526680|PMID:34558151|PMID:35626289|PMID:36252119|PMID:8994428|PMID:9039266|PMID:9536098 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:0110449 dilated cardiomyopathy 1M ISO RGD:733068 D RGD:7240710 20180130 OMIM 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:0110449 dilated cardiomyopathy 1M ISO RGD:733068 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1M PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16199547|PMID:16352453|PMID:17084280|PMID:17097056|PMID:18250163|PMID:18505755|PMID:19035361|PMID:19412328|PMID:20044516|PMID:20087448|PMID:20474083|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25351510|PMID:25611685|PMID:25741868|PMID:26656175|PMID:27353086|PMID:27532257|PMID:27650965|PMID:28492532|PMID:28750076|PMID:28790153|PMID:28878402|PMID:29544605|PMID:30012424|PMID:30021846|PMID:30048712|PMID:30847666|PMID:31006259|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32344918|PMID:32697969|PMID:32746448|PMID:32880476|PMID:33012304|PMID:33035702|PMID:33297573|PMID:33495596|PMID:33495597|PMID:34426522|PMID:34495297|PMID:34526680|PMID:34558151|PMID:35626289|PMID:8994428|PMID:9039266 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:733068 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:1059 intellectual disability ISO RGD:733068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733068 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12507422|PMID:12642359|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18250163|PMID:18505755|PMID:19035361|PMID:20044516|PMID:20474083|PMID:21425739|PMID:22337857|PMID:22429680|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25351510|PMID:25741868|PMID:26656175|PMID:27353086|PMID:27532257|PMID:28492532|PMID:28790153|PMID:30012424|PMID:30048712|PMID:31513939|PMID:35626289|PMID:8994428|PMID:9039266 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:733068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:20044516|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28492532|PMID:9039266 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:2843 long QT syndrome ISO RGD:733068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prolonged QT interval PMID:24033266|PMID:25741868|PMID:28492532|PMID:28790153 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:303 substance-related disorder ISO RGD:733068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:3910 lung adenocarcinoma ISO RGD:733068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:6000 congestive heart failure ISO RGD:733069 D RGD:9068941 20220825 MouseDO 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:630 genetic disease ISO RGD:733068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:71092 D RGD:9068941 20200609 RGD PMID:11113014|REF_RGD_ID:1598503 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:9006205 Animal Disease Models ISO RGD:733068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8742720 Csrp3 cysteine and glycine rich protein 3 gene DOID:9007820 Sudden Death ISO RGD:733068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:12507422|PMID:14567970|PMID:15781201|PMID:16352453|PMID:17084280|PMID:18505755|PMID:20044516|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28492532|PMID:9039266 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349510 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0050476 Barth syndrome ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0070025 X-linked dyskeratosis congenita ISO RGD:1349510 D RGD:7240710 20180502 OMIM 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0070025 X-linked dyskeratosis congenita ISO RGD:1349510 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DKC1-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked PMID:10364516|PMID:10438713|PMID:10583221|PMID:10591218|PMID:10700698|PMID:11054058|PMID:11379875|PMID:11491307|PMID:11522545|PMID:11641517|PMID:12137939|PMID:12437656|PMID:1361371|PMID:14648217|PMID:15304085|PMID:15842668|PMID:16332973|PMID:16690864|PMID:18212040|PMID:18627054|PMID:19003239|PMID:19391112|PMID:19633571|PMID:19734544|PMID:19835419|PMID:19879169|PMID:20008900|PMID:20091372|PMID:20301779|PMID:21601430|PMID:21602826|PMID:21931702|PMID:22058290|PMID:22117216|PMID:22664374|PMID:23279657|PMID:23660516|PMID:23707062|PMID:23946118|PMID:24033266|PMID:24115260|PMID:24914498|PMID:25326635|PMID:25741868|PMID:25992652|PMID:26571381|PMID:27418648|PMID:27622320|PMID:28492532|PMID:28930861|PMID:29483670|PMID:29625052|PMID:29921932|PMID:3009302|PMID:30202881|PMID:31027506|PMID:31268371|PMID:31474318|PMID:32126783|PMID:7607282|PMID:768476|PMID:9042917|PMID:9590285|PMID:9888995 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1349510 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21931702|PMID:25741868|PMID:28492532|PMID:28930861|PMID:31474318 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349510 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:12449 aplastic anemia ISO RGD:1349510 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.V105G, p.S121A (human) PMID:26360549|REF_RGD_ID:11251733 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:12849 autistic disorder ISO RGD:1349510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:13628 favism ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1615626 D RGD:9068941 20200609 RGD PMID:12522253|REF_RGD_ID:11251731 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:2355 anemia ISO RGD:1615626 D RGD:9068941 20200609 RGD PMID:12522253|REF_RGD_ID:11251731 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1349510 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:10364516|PMID:10583221|PMID:10700698|PMID:11054058|PMID:11379875|PMID:11491307|PMID:11522545|PMID:11641517|PMID:12137939|PMID:14648217|PMID:15304085|PMID:15842668|PMID:16332973|PMID:17576681|PMID:18177777|PMID:19003239|PMID:19391112|PMID:19633571|PMID:19734544|PMID:19835419|PMID:19879169|PMID:20008900|PMID:20091372|PMID:20301779|PMID:21601430|PMID:21602826|PMID:21736606|PMID:22058290|PMID:22117216|PMID:22664374|PMID:23279657|PMID:23660516|PMID:23707062|PMID:24033266|PMID:24115260|PMID:24914498|PMID:25326635|PMID:25455995|PMID:25741868|PMID:25992652|PMID:26571381|PMID:27418648|PMID:27622320|PMID:28492532|PMID:29625052|PMID:29921932|PMID:31027506|PMID:31268371|PMID:32126783|PMID:33718801|PMID:7607282|PMID:9536098|PMID:9590285 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1349510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:607 paraplegia ISO RGD:1349510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:614 lymphopenia ISO RGD:1615626 D RGD:9068941 20200609 RGD PMID:12522253|REF_RGD_ID:11251731 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:630 genetic disease ISO RGD:1349510 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:9000594 Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 ISO RGD:1349510 D RGD:7240710 20230712 OMIM 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:9000594 Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 ISO RGD:1349510 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 PMID:32554502 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1349510 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:10583221|PMID:12437656|PMID:19734544|PMID:20301779|PMID:25741868|PMID:28492532|PMID:31027506|PMID:7607282 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1349510 D RGD:9068941 20200609 RGD PMID:18077792|REF_RGD_ID:11251735 8742760 Dkc1 dyskerin pseudouridine synthase 1 gene DOID:9002720 Splenomegaly ISO RGD:1349510 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8742778 Vps33a VPS33A core subunit of CORVET and HOPS complexes gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:731827 D RGD:9068941 20220825 MouseDO 8742778 Vps33a VPS33A core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:731826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8742778 Vps33a VPS33A core subunit of CORVET and HOPS complexes gene DOID:9006933 Mucopolysaccharidosis-Plus Syndrome ISO RGD:731826 D RGD:7240710 20190315 OMIM 8742778 Vps33a VPS33A core subunit of CORVET and HOPS complexes gene DOID:9006933 Mucopolysaccharidosis-Plus Syndrome ISO RGD:731826 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome PMID:25741868|PMID:27547915|PMID:28013294|PMID:28492532|PMID:31070736 8742801 Cbll1 Cbl proto-oncogene like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8742801 Cbll1 Cbl proto-oncogene like 1 gene DOID:630 genetic disease ISO RGD:1321764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742817 Kri1 KRI1 homolog gene DOID:630 genetic disease ISO RGD:1607005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742840 Anxa1 annexin A1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730873 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland PMID:22323911|REF_RGD_ID:7421537 8742840 Anxa1 annexin A1 gene DOID:0060180 colitis ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:colon, neutrophil PMID:10489933|REF_RGD_ID:2306920 8742840 Anxa1 annexin A1 gene DOID:0080600 COVID-19 ISO RGD:730873 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8742840 Anxa1 annexin A1 gene DOID:10140 dry eye syndrome ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:23201116|REF_RGD_ID:7421553 8742840 Anxa1 annexin A1 gene DOID:10247 pleurisy ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:15784654|REF_RGD_ID:2306907 8742840 Anxa1 annexin A1 gene DOID:10534 stomach cancer ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:23236538|REF_RGD_ID:7421587 8742840 Anxa1 annexin A1 gene DOID:10763 hypertension ISO RGD:2118 D RGD:9068941 20200609 RGD protein:altered localization:vascular associated smooth muscle cell PMID:16109804|REF_RGD_ID:1599668 8742840 Anxa1 annexin A1 gene DOID:10763 hypertension ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8742840 Anxa1 annexin A1 gene DOID:12849 autistic disorder ISO RGD:730873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8742840 Anxa1 annexin A1 gene DOID:13141 uveitis ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:23645879|REF_RGD_ID:7421538 8742840 Anxa1 annexin A1 gene DOID:13141 uveitis ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:21633711|REF_RGD_ID:7421539 8742840 Anxa1 annexin A1 gene DOID:13141 uveitis treatment ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:23645879|REF_RGD_ID:7421538 8742840 Anxa1 annexin A1 gene DOID:1350 paranasal sinus benign neoplasm ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:20970165|REF_RGD_ID:7421559 8742840 Anxa1 annexin A1 gene DOID:1459 hypothyroidism ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:9022675|REF_RGD_ID:2306952 8742840 Anxa1 annexin A1 gene DOID:1749 squamous cell carcinoma ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8742840 Anxa1 annexin A1 gene DOID:1749 squamous cell carcinoma ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:8919037|REF_RGD_ID:7421562 8742840 Anxa1 annexin A1 gene DOID:1793 pancreatic cancer ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:19173988|REF_RGD_ID:2325722 8742840 Anxa1 annexin A1 gene DOID:1793 pancreatic cancer ISO RGD:730873 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17974280|REF_RGD_ID:2325723 8742840 Anxa1 annexin A1 gene DOID:2316 brain ischemia ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:1830327|REF_RGD_ID:7421662 8742840 Anxa1 annexin A1 gene DOID:2316 brain ischemia treatment ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:1830327|REF_RGD_ID:7421662 8742840 Anxa1 annexin A1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:2118 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:17994624|REF_RGD_ID:2306889 8742840 Anxa1 annexin A1 gene DOID:2734 keratosis follicularis ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:8919037|REF_RGD_ID:7421562 8742840 Anxa1 annexin A1 gene DOID:2773 contact dermatitis ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:23267026|REF_RGD_ID:7421573 8742840 Anxa1 annexin A1 gene DOID:2841 asthma ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:22092555|REF_RGD_ID:7421657 8742840 Anxa1 annexin A1 gene DOID:3008 invasive ductal carcinoma ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:18776816|REF_RGD_ID:7421535 8742840 Anxa1 annexin A1 gene DOID:3008 invasive ductal carcinoma treatment ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:19171478|REF_RGD_ID:7421560 8742840 Anxa1 annexin A1 gene DOID:3021 acute kidney failure treatment ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:22101490|REF_RGD_ID:7421583 8742840 Anxa1 annexin A1 gene DOID:305 carcinoma ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8742840 Anxa1 annexin A1 gene DOID:3069 malignant astrocytoma ISO RGD:730873 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;mRNA:increased expression:brain PMID:20133820|REF_RGD_ID:7421564 8742840 Anxa1 annexin A1 gene DOID:326 ischemia ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:17653046|REF_RGD_ID:2306896 8742840 Anxa1 annexin A1 gene DOID:3526 cerebral infarction treatment ISO RGD:2118 D RGD:9068941 20200609 RGD associated with Ischemic Attack, Transient PMID:22617647|REF_RGD_ID:7483559 8742840 Anxa1 annexin A1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8742840 Anxa1 annexin A1 gene DOID:3770 pulmonary fibrosis ISO RGD:2118 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:9269316|REF_RGD_ID:2306948 8742840 Anxa1 annexin A1 gene DOID:3910 lung adenocarcinoma ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8742840 Anxa1 annexin A1 gene DOID:4450 renal cell carcinoma ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:14587099|REF_RGD_ID:7421570 8742840 Anxa1 annexin A1 gene DOID:557 kidney disease ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20484890 8742840 Anxa1 annexin A1 gene DOID:630 genetic disease ISO RGD:730873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742840 Anxa1 annexin A1 gene DOID:6498 seborrheic keratosis ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:8919037|REF_RGD_ID:7421562 8742840 Anxa1 annexin A1 gene DOID:76 stomach disease ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15472012 8742840 Anxa1 annexin A1 gene DOID:7998 hyperthyroidism ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:9022675|REF_RGD_ID:2306952 8742840 Anxa1 annexin A1 gene DOID:83 cataract ISO RGD:10164 D RGD:9068941 20200609 RGD DNA, protein:polymorphism: :p.R212I (mouse) PMID:19003866|REF_RGD_ID:7421556 8742840 Anxa1 annexin A1 gene DOID:83 cataract ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:1385581|REF_RGD_ID:7421566 8742840 Anxa1 annexin A1 gene DOID:8893 psoriasis ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:8919037|REF_RGD_ID:7421562 8742840 Anxa1 annexin A1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2118 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron,glial cell PMID:15248295|REF_RGD_ID:10053688 8742840 Anxa1 annexin A1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:17917587|REF_RGD_ID:2306891 8742840 Anxa1 annexin A1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8742840 Anxa1 annexin A1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942|PMID:22248470 8742840 Anxa1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10164 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:20308542|PMID:20821804|REF_RGD_ID:7421541|REF_RGD_ID:7421563 8742840 Anxa1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2118 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:20308542|REF_RGD_ID:7421563 8742840 Anxa1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2118 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental;protein:increased expression:lung PMID:9514092|REF_RGD_ID:2306939 8742840 Anxa1 annexin A1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20308542 8742840 Anxa1 annexin A1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730873 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:20821804|REF_RGD_ID:7421541 8742840 Anxa1 annexin A1 gene DOID:9001472 Nasal Polyps ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:20549082|REF_RGD_ID:7421567 8742840 Anxa1 annexin A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2118 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8755646|REF_RGD_ID:2306954 8742840 Anxa1 annexin A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8742840 Anxa1 annexin A1 gene DOID:9002211 Hyperalgesia ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:9222544|REF_RGD_ID:2306950 8742840 Anxa1 annexin A1 gene DOID:9002211 Hyperalgesia ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion PMID:21990306|REF_RGD_ID:7421656 8742840 Anxa1 annexin A1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 8742840 Anxa1 annexin A1 gene DOID:9002457 Experimental Arthritis ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:23267026|REF_RGD_ID:7421573 8742840 Anxa1 annexin A1 gene DOID:9002457 Experimental Arthritis ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:10403283|REF_RGD_ID:2306928 8742840 Anxa1 annexin A1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:23267026|REF_RGD_ID:7421573 8742840 Anxa1 annexin A1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2118 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16034371|REF_RGD_ID:2306905 8742840 Anxa1 annexin A1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte, macrophage PMID:9472682|REF_RGD_ID:2306942 8742840 Anxa1 annexin A1 gene DOID:9004464 Skin Neoplasms ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:22782996|REF_RGD_ID:7421558 8742840 Anxa1 annexin A1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 8742840 Anxa1 annexin A1 gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:22740770|REF_RGD_ID:7421536 8742840 Anxa1 annexin A1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:16316942|REF_RGD_ID:2306898 8742840 Anxa1 annexin A1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8742840 Anxa1 annexin A1 gene DOID:9005372 Inflammation ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:mast cell granule, cytoplasm PMID:11005211|REF_RGD_ID:7421660 8742840 Anxa1 annexin A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased glycation:respiratory system blood vessel endothelium PMID:11423489|REF_RGD_ID:2306888 8742840 Anxa1 annexin A1 gene DOID:9005941 Rhinosinusitis ISO RGD:730873 D RGD:9068941 20200609 RGD associated with Nasal Polyps PMID:22279949|REF_RGD_ID:7421555 8742840 Anxa1 annexin A1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2118 D RGD:9068941 20200609 RGD PMID:20953576|REF_RGD_ID:7421585 8742840 Anxa1 annexin A1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:10603033|REF_RGD_ID:2306914 8742840 Anxa1 annexin A1 gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:20701627|REF_RGD_ID:7421565 8742840 Anxa1 annexin A1 gene DOID:9007364 Mouth Neoplasms ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8742840 Anxa1 annexin A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10164 D RGD:9068941 20200609 RGD PMID:22924634|REF_RGD_ID:7421655 8742840 Anxa1 annexin A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2118 D RGD:9068941 20200609 RGD protein:increased expression:heart, leukocyte PMID:11641252|REF_RGD_ID:2306910 8742840 Anxa1 annexin A1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:22924634|REF_RGD_ID:7421655 8742840 Anxa1 annexin A1 gene DOID:9008110 Blister ISO RGD:730873 D RGD:9068941 20200609 RGD associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell PMID:10331485|REF_RGD_ID:7421575 8742840 Anxa1 annexin A1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17405164 8742840 Anxa1 annexin A1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730873 D RGD:9068941 20200609 RGD PMID:20353277|REF_RGD_ID:7421540 8742840 Anxa1 annexin A1 gene DOID:9588 encephalitis ISO RGD:10164 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22964301|REF_RGD_ID:7421580 8742857 Bmp3 bone morphogenetic protein 3 gene DOID:630 genetic disease ISO RGD:735356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742857 Bmp3 bone morphogenetic protein 3 gene DOID:9001547 Tibial Fractures ISO RGD:2212 D RGD:9068941 20200609 RGD protein:increased expression:tibia PMID:16651391|REF_RGD_ID:2289037 8742870 Spock3 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 gene DOID:630 genetic disease ISO RGD:1313840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742902 Calcr calcitonin receptor gene DOID:11476 osteoporosis ISO RGD:731272 D RGD:9068941 20240215 CTD CTD Direct Evidence: marker/mechanism 8742902 Calcr calcitonin receptor gene DOID:11476 osteoporosis susceptibility ISO RGD:731272 D RGD:7240710 20230505 OMIM 8742902 Calcr calcitonin receptor gene DOID:12678 hypercalcemia ISO RGD:731272 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18627265 8742902 Calcr calcitonin receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8742902 Calcr calcitonin receptor gene DOID:630 genetic disease ISO RGD:731272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742902 Calcr calcitonin receptor gene DOID:9003870 Herpes Simplex Encephalitis treatment ISO RGD:621001 D RGD:9068941 20200609 RGD PMID:22761571|REF_RGD_ID:7240516 8742925 Katna1 katanin catalytic subunit A1 gene DOID:630 genetic disease ISO RGD:1353857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742967 Adam12 ADAM metallopeptidase domain 12 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1317265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8742967 Adam12 ADAM metallopeptidase domain 12 gene DOID:5199 ureteral obstruction ISO RGD:1317266 D RGD:9068941 20200609 RGD PMID:24103556|REF_RGD_ID:13703030 8742967 Adam12 ADAM metallopeptidase domain 12 gene DOID:630 genetic disease ISO RGD:1317265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742967 Adam12 ADAM metallopeptidase domain 12 gene DOID:8398 osteoarthritis susceptibility ISO RGD:1317265 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 8742990 Crym crystallin mu gene DOID:0110566 autosomal dominant nonsyndromic deafness 40 ISO RGD:734218 D RGD:7240710 20180130 OMIM 8742990 Crym crystallin mu gene DOID:0110566 autosomal dominant nonsyndromic deafness 40 ISO RGD:734218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 40 PMID:12471561|PMID:24033266|PMID:25741868|PMID:28492532 8742990 Crym crystallin mu gene DOID:6000 congestive heart failure ISO RGD:734218 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8742990 Crym crystallin mu gene DOID:630 genetic disease ISO RGD:734218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8742990 Crym crystallin mu gene DOID:9008681 Deafness ISO RGD:734218 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K314T (human) PMID:12471561|REF_RGD_ID:734836 8743020 Ddb1 damage specific DNA binding protein 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:734016 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:33743206 8743020 Ddb1 damage specific DNA binding protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:734016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8743020 Ddb1 damage specific DNA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:734016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8743020 Ddb1 damage specific DNA binding protein 1 gene DOID:1682 congenital heart disease ISO RGD:734016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 8743020 Ddb1 damage specific DNA binding protein 1 gene DOID:2033 communication disorder ISO RGD:734016 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8743020 Ddb1 damage specific DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:734016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33743206 8743020 Ddb1 damage specific DNA binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:734016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8743020 Ddb1 damage specific DNA binding protein 1 gene DOID:9000918 Disease Progression ISO RGD:734016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8743020 Ddb1 damage specific DNA binding protein 1 gene DOID:9004434 WHITE-KERNOHAN SYNDROME ISO RGD:734016 D RGD:7240710 20210901 OMIM 8743020 Ddb1 damage specific DNA binding protein 1 gene DOID:9004434 WHITE-KERNOHAN SYNDROME ISO RGD:734016 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: White-Kernohan syndrome PMID:25741868|PMID:33743206 8743020 Ddb1 damage specific DNA binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8743051 Setd7 SET domain containing 7, histone lysine methyltransferase gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:1586346 D RGD:9068941 20240201 RGD mRNA:decreased expression:pituitary gland (rat) PMID:26509893|REF_RGD_ID:11344152 8743051 Setd7 SET domain containing 7, histone lysine methyltransferase gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:1586346 D RGD:9068941 20200609 RGD PMID:24097032|REF_RGD_ID:9491846 8743051 Setd7 SET domain containing 7, histone lysine methyltransferase gene DOID:1561 cognitive disorder ISO RGD:1606498 D RGD:9068941 20220811 CTD CTD Direct Evidence: therapeutic PMID:35187972 8743051 Setd7 SET domain containing 7, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1606498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743066 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:0050633 ocular albinism 1 ISO RGD:1318559 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:25741868 8743066 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1553020 D RGD:9068941 20220825 MouseDO OMIM:203300 8743066 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1318559 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:28492532 8743066 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1318559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8743066 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1318559 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:32935436|PMID:36430862 8743066 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1553020 D RGD:9068941 20220825 MouseDO OMIM:185050 8743066 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1318559 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8743066 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:1318559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8743066 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:630 genetic disease ISO RGD:1318559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8743066 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8743066 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:9006228 Hermansky-Pudlak Syndrome 10 ISO RGD:1318559 D RGD:7240710 20190315 OMIM 8743066 Ap3d1 adaptor related protein complex 3 subunit delta 1 gene DOID:9006228 Hermansky-Pudlak Syndrome 10 ISO RGD:1318559 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 PMID:17576681|PMID:25741868|PMID:26744459|PMID:28492532|PMID:32935436|PMID:36430862|PMID:9536098 8743108 Ldoc1 LDOC1 regulator of NFKB signaling gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8743108 Ldoc1 LDOC1 regulator of NFKB signaling gene DOID:12849 autistic disorder ISO RGD:1344664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8743108 Ldoc1 LDOC1 regulator of NFKB signaling gene DOID:630 genetic disease ISO RGD:1344664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743113 Tifa TRAF interacting protein with forkhead associated domain gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1606192 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:25741868 8743113 Tifa TRAF interacting protein with forkhead associated domain gene DOID:12271 aniridia ISO RGD:1606192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 8743113 Tifa TRAF interacting protein with forkhead associated domain gene DOID:630 genetic disease ISO RGD:1606192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743135 Ift22 intraflagellar transport 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8743135 Ift22 intraflagellar transport 22 gene DOID:630 genetic disease ISO RGD:1313356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0050902 medulloblastoma ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0050934 ovarian clear cell carcinoma treatment ISO RGD:1321437 D RGD:9068941 20210409 RGD human cell in mouse model PMID:21900401|REF_RGD_ID:126725086 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0060041 autism spectrum disorder ISO RGD:1321437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0060857 septooptic dysplasia ISO RGD:1321437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:25741868|PMID:35885948 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1321437 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 PMID:22426308|PMID:25168959|PMID:25741868 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:1321437 D RGD:7240710 20180130 OMIM 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:1321437 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 PMID:18414213|PMID:22426308|PMID:23010866|PMID:23556151|PMID:23637025|PMID:23906836|PMID:23929686|PMID:24728327|PMID:25168959|PMID:25169878|PMID:25326635|PMID:25741868|PMID:28262751|PMID:28492532|PMID:30123105|PMID:35353340 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0080199 colorectal carcinoma onset ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:colorectum (human) PMID:24925223|REF_RGD_ID:126790632 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 8743154 Arid1a AT-rich interaction domain 1A gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1321437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8743154 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer ISO RGD:1321437 D RGD:9068941 20210430 RGD mRNA:decreased expression:stomach (human) PMID:29317648|REF_RGD_ID:126781705 8743154 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:28031120|REF_RGD_ID:125097489 8743154 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer disease_progression ISO RGD:1321437 D RGD:9068941 20210423 RGD associated with Epstein-Barr Virus Infections;protein:decreased expression:stomach (human) PMID:22915242|REF_RGD_ID:126781706 8743154 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26067140|PMID:26468418|PMID:30747208|PMID:32387347|REF_RGD_ID:126781704|REF_RGD_ID:126781773|REF_RGD_ID:126790633|REF_RGD_ID:126790641 8743154 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD associated with Epstein-Barr Virus Infections;protein:decreased expression:stomach (human) PMID:30664822|REF_RGD_ID:126848733 8743154 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26637902|PMID:29689245|REF_RGD_ID:126781725|REF_RGD_ID:126848744 8743154 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer susceptibility ISO RGD:1321437 D RGD:9068941 20210430 RGD DNA:missense mutation, nonsense mutation:exon 9: Pro912Thr (C>A), Gln920Ter (C >T) (Human) PMID:32377988|REF_RGD_ID:126848772 8743154 Arid1a AT-rich interaction domain 1A gene DOID:10534 stomach cancer treatment ISO RGD:1321437 D RGD:9068941 20210402 RGD human gene in mouse model PMID:27323812|REF_RGD_ID:125097523 8743154 Arid1a AT-rich interaction domain 1A gene DOID:1059 intellectual disability ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8743154 Arid1a AT-rich interaction domain 1A gene DOID:1059 intellectual disability ISO RGD:1321437 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8743154 Arid1a AT-rich interaction domain 1A gene DOID:10591 pre-eclampsia disease_progression ISO RGD:1321437 D RGD:9068941 20230413 RGD associated with Fetal Growth Retardation; protein:increased expression:placenta, nucleus (human) PMID:32529396|REF_RGD_ID:243065143 8743154 Arid1a AT-rich interaction domain 1A gene DOID:10907 microcephaly ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8743154 Arid1a AT-rich interaction domain 1A gene DOID:11054 urinary bladder cancer ISO RGD:1321437 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8743154 Arid1a AT-rich interaction domain 1A gene DOID:13088 periventricular leukomalacia ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:25741868|PMID:28492532 8743154 Arid1a AT-rich interaction domain 1A gene DOID:1380 endometrial cancer onset ISO RGD:1321437 D RGD:9068941 20210409 RGD protein:decreased expression:endometrium (human) PMID:23887303|REF_RGD_ID:126779522 8743154 Arid1a AT-rich interaction domain 1A gene DOID:1612 breast cancer treatment ISO RGD:1321437 D RGD:9068941 20210507 RGD human cells in mouse model PMID:26069190|REF_RGD_ID:11072938 8743154 Arid1a AT-rich interaction domain 1A gene DOID:1826 epilepsy ISO RGD:1321437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8743154 Arid1a AT-rich interaction domain 1A gene DOID:1925 Coffin-Siris syndrome ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:25741868 8743154 Arid1a AT-rich interaction domain 1A gene DOID:2154 nephroblastoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8743154 Arid1a AT-rich interaction domain 1A gene DOID:219 colon cancer treatment ISO RGD:1321437 D RGD:9068941 20210507 RGD human cells in mouse model PMID:26069190|REF_RGD_ID:11072938 8743154 Arid1a AT-rich interaction domain 1A gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:colorectum (human) PMID:26980037|REF_RGD_ID:126790569 8743154 Arid1a AT-rich interaction domain 1A gene DOID:2671 transitional cell carcinoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 8743154 Arid1a AT-rich interaction domain 1A gene DOID:2870 endometrial adenocarcinoma treatment ISO RGD:1321437 D RGD:9068941 20210409 RGD human cell in mouse model PMID:21900401|REF_RGD_ID:126725086 8743154 Arid1a AT-rich interaction domain 1A gene DOID:2871 endometrial carcinoma ISO RGD:1321437 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8743154 Arid1a AT-rich interaction domain 1A gene DOID:299 adenocarcinoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 8743154 Arid1a AT-rich interaction domain 1A gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 8743154 Arid1a AT-rich interaction domain 1A gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:25717252|REF_RGD_ID:126848753 8743154 Arid1a AT-rich interaction domain 1A gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210409 RGD mRNA, protein:decreased expression:mucosa of stomach (human) PMID:22808142|REF_RGD_ID:125097488 8743154 Arid1a AT-rich interaction domain 1A gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1321437 D RGD:9068941 20210402 RGD mRNA:decreased expression:mucosa of stomach (human) PMID:24293408|REF_RGD_ID:125097521 8743154 Arid1a AT-rich interaction domain 1A gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:lung (human) PMID:32823232|REF_RGD_ID:126848760 8743154 Arid1a AT-rich interaction domain 1A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210507 RGD protein:decreased expression:lung (human) PMID:24566899|REF_RGD_ID:126848781 8743154 Arid1a AT-rich interaction domain 1A gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1321437 D RGD:9068941 20210507 RGD DNA:mutations PMID:32791957|REF_RGD_ID:126848874 8743154 Arid1a AT-rich interaction domain 1A gene DOID:4907 small intestine carcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210416 RGD protein:decreased expression:small intestine (human) PMID:25400081|REF_RGD_ID:126781719 8743154 Arid1a AT-rich interaction domain 1A gene DOID:4914 esophagus adenocarcinoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 8743154 Arid1a AT-rich interaction domain 1A gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210625 RGD PMID:31906887|REF_RGD_ID:127285649 8743154 Arid1a AT-rich interaction domain 1A gene DOID:4927 Klatskin's tumor disease_progression ISO RGD:1321437 D RGD:9068941 20210430 RGD DNA:deletions PMID:33387086|REF_RGD_ID:126848756 8743154 Arid1a AT-rich interaction domain 1A gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20200609 RGD PMID:30849962|REF_RGD_ID:14974231 8743154 Arid1a AT-rich interaction domain 1A gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210423 RGD mRNA,protein:decreased expression:intrahepatic bile duct (human) PMID:27433094|REF_RGD_ID:126775257 8743154 Arid1a AT-rich interaction domain 1A gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210423 RGD protein:decreased expression:intrahepatic bile duct (human) PMID:31665232|REF_RGD_ID:126781775 8743154 Arid1a AT-rich interaction domain 1A gene DOID:4947 cholangiocarcinoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 8743154 Arid1a AT-rich interaction domain 1A gene DOID:5517 stomach carcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210423 RGD protein:decreased expression:stomach (human) PMID:24767857|REF_RGD_ID:125097484 8743154 Arid1a AT-rich interaction domain 1A gene DOID:5744 ovary serous adenocarcinoma ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary 8743154 Arid1a AT-rich interaction domain 1A gene DOID:630 genetic disease ISO RGD:1321437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22009941|PMID:22037554|PMID:25741868|PMID:28401006|PMID:28492532 8743154 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma ISO RGD:1321437 D RGD:9068941 20231109 CTD CTD Direct Evidence: marker/mechanism PMID:22561517|PMID:22634756|PMID:22922871 8743154 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma ISO RGD:1321437 D RGD:9068941 20231109 RGD mRNA, protein:decreased expression:liver (human) PMID:25975202|REF_RGD_ID:125097495 8743154 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma ISO RGD:1321437 D RGD:9068941 20231109 RGD mRNA, protein:increased expression:liver (human) PMID:26589513|REF_RGD_ID:125097485 8743154 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD human gene in mouse model PMID:29136504|REF_RGD_ID:126790634 8743154 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1321438 D RGD:9068941 20210423 RGD associated with non-alcoholic steatohepatitis PMID:26569409|REF_RGD_ID:11344640 8743154 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1321438 D RGD:9068941 20210430 RGD PMID:29136504|REF_RGD_ID:126790634 8743154 Arid1a AT-rich interaction domain 1A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1321438 D RGD:9068941 20210402 RGD PMID:29113912|REF_RGD_ID:125097519 8743154 Arid1a AT-rich interaction domain 1A gene DOID:687 hepatoblastoma ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:26822237 8743154 Arid1a AT-rich interaction domain 1A gene DOID:769 neuroblastoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202128 8743154 Arid1a AT-rich interaction domain 1A gene DOID:769 neuroblastoma ISO RGD:1321437 D RGD:9068941 20200609 RGD DNA:mutations,loss of heterozygosity: : PMID:23202128|REF_RGD_ID:13439724 8743154 Arid1a AT-rich interaction domain 1A gene DOID:7698 non-functioning pancreatic endocrine tumor exacerbates ISO RGD:1321437 D RGD:9068941 20210430 RGD protein:decreased expression:endocrine pancreas (human) PMID:32282764|REF_RGD_ID:126790640 8743154 Arid1a AT-rich interaction domain 1A gene DOID:8541 Sezary's disease ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 8743154 Arid1a AT-rich interaction domain 1A gene DOID:8584 Burkitt lymphoma ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9000027 Microsatellite Instability ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037554|PMID:22484628|PMID:24816253 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1321438 D RGD:9068941 20210402 RGD in lung; associated with hepatocellular carcinoma PMID:25975202|REF_RGD_ID:125097495 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:1321438 D RGD:9068941 20210423 RGD PMID:26569409|REF_RGD_ID:11344640 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9006741 Acute Hepatitis exacerbates ISO RGD:1321438 D RGD:9068941 20210423 RGD PMID:26569409|REF_RGD_ID:11344640 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1321437 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9007715 Endometrial Neoplasms ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9008386 Hydrops Fetalis ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27941798 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9008939 Breast Neoplasms ISO RGD:1321437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31932695 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9256 colorectal cancer ISO RGD:1321437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9256 colorectal cancer disease_progression ISO RGD:1321437 D RGD:9068941 20210409 RGD protein:decreased expression:colorectum (human) PMID:25561809|REF_RGD_ID:126779574 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9256 colorectal cancer exacerbates ISO RGD:1321437 D RGD:9068941 20210409 RGD protein:decreased expression:colorectum (human) PMID:31263894|REF_RGD_ID:126777686 8743154 Arid1a AT-rich interaction domain 1A gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1321437 D RGD:9068941 20210416 RGD protein:decreased expression:nasopharynx(human) PMID:31213911|REF_RGD_ID:126781707 8743194 Bsdc1 BSD domain containing 1 gene DOID:630 genetic disease ISO RGD:1605672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743211 Psmb2 proteasome 20S subunit beta 2 gene DOID:0080600 COVID-19 ISO RGD:732759 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8743211 Psmb2 proteasome 20S subunit beta 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8743211 Psmb2 proteasome 20S subunit beta 2 gene DOID:11054 urinary bladder cancer ISO RGD:732759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8743211 Psmb2 proteasome 20S subunit beta 2 gene DOID:630 genetic disease ISO RGD:732759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743262 Mex3b mex-3 RNA binding family member B gene DOID:2717 Bloom syndrome ISO RGD:1346115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8743262 Mex3b mex-3 RNA binding family member B gene DOID:630 genetic disease ISO RGD:1346115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743262 Mex3b mex-3 RNA binding family member B gene DOID:9256 colorectal cancer ISO RGD:1346115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8743271 Frmd4a FERM domain containing 4A gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8743271 Frmd4a FERM domain containing 4A gene DOID:10907 microcephaly ISO RGD:1350302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8743271 Frmd4a FERM domain containing 4A gene DOID:303 substance-related disorder ISO RGD:1350302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8743271 Frmd4a FERM domain containing 4A gene DOID:630 genetic disease ISO RGD:1350302 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8743271 Frmd4a FERM domain containing 4A gene DOID:9006921 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA ISO RGD:1350302 D RGD:7240710 20190315 OMIM 8743271 Frmd4a FERM domain containing 4A gene DOID:9006921 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA ISO RGD:1350302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia PMID:25388005|PMID:25741868|PMID:28492532 8743302 Cadm2 cell adhesion molecule 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313847 D RGD:9068941 20200609 RGD PMID:21996756|REF_RGD_ID:15092074 8743302 Cadm2 cell adhesion molecule 2 gene DOID:3069 malignant astrocytoma severity ISO RGD:1313847 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:30816549|REF_RGD_ID:19165125 8743302 Cadm2 cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1313847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743302 Cadm2 cell adhesion molecule 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313847 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:24240726|REF_RGD_ID:15092075 8743302 Cadm2 cell adhesion molecule 2 gene DOID:768 retinoblastoma ISO RGD:1313847 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:30320366|REF_RGD_ID:15092072 8743302 Cadm2 cell adhesion molecule 2 gene DOID:8893 psoriasis ISO RGD:1313847 D RGD:9068941 20200609 RGD PMID:21864505|REF_RGD_ID:15092073 8743302 Cadm2 cell adhesion molecule 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1313847 D RGD:9068941 20200609 RGD DNA:SNP: :rs13078807 (human) PMID:28401323|REF_RGD_ID:15092076 8743302 Cadm2 cell adhesion molecule 2 gene DOID:9970 obesity ISO RGD:1313847 D RGD:9068941 20200609 RGD DNA:SNP: :rs13078807 (human) PMID:31341224|REF_RGD_ID:15092077 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic Leukoencephalopathy PMID:25741868|PMID:27159321|PMID:28857146 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ISO RGD:1320645 D RGD:7240710 20190315 OMIM 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 PMID:18513682|PMID:25741868|PMID:27159321|PMID:28857146|PMID:32154054 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:10652 Alzheimer's disease ISO RGD:1320645 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:3652 Leigh disease ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:630 genetic disease ISO RGD:1320645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9000918 Disease Progression ISO RGD:1320645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8743323 Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:16507107|REF_RGD_ID:126781766 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:19691460|REF_RGD_ID:126781771 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:9470844|REF_RGD_ID:2289952 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0060560 lethal congenital contracture syndrome 2 ISO RGD:733426 D RGD:7240710 20240306 OMIM 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0060560 lethal congenital contracture syndrome 2 ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2 PMID:17701904|PMID:25741868 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:733426 D RGD:9068941 20221020 CTD CTD Direct Evidence: marker/mechanism 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0080679 neuronal intestinal dysplasia type A ISO RGD:733426 D RGD:7240710 20240306 OMIM 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:0080679 neuronal intestinal dysplasia type A ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial, 1, autosomal recessive PMID:25741868|PMID:33497358 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:10283 prostate cancer ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:17532856|REF_RGD_ID:2289946 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:11054 urinary bladder cancer ISO RGD:733426 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:26619011 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:16685269|REF_RGD_ID:2298502 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:23680147 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:2671 transitional cell carcinoma ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:22549618|REF_RGD_ID:126790474 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69323 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17908459|REF_RGD_ID:2289953 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:363 uterine cancer ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:3717 gastric adenocarcinoma ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:11789762|REF_RGD_ID:126790479 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:20364069|REF_RGD_ID:126790478 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:26824984|REF_RGD_ID:126790475 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:4948 gallbladder carcinoma ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:26619011 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:21709195|REF_RGD_ID:126781768 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:571 median neuropathy ISO RGD:69323 D RGD:9068941 20210423 RGD PMID:18845940|PMID:19296522|REF_RGD_ID:10449020|REF_RGD_ID:126790486 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:6171 uterine carcinosarcoma ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:26619011 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:733426 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:11355950|REF_RGD_ID:126781769 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:24997986|REF_RGD_ID:126781772 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69323 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:11797086|REF_RGD_ID:2289967 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733426 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:increased expression, altered localization:lymph node, nucleus PMID:17634423|REF_RGD_ID:2289944 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733426 D RGD:9068941 20210423 RGD associated with head and neck squamous cell carcinoma PMID:20604875|REF_RGD_ID:126790467 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:23680147 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000473 Familial Visceral Neuropathy ISO RGD:733426 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial PMID:25741868 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000918 Disease Progression ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21638049 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733426 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:alternative form PMID:18559590|REF_RGD_ID:2298500 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733426 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:increased expression, altered localization:bone, nucleus PMID:17634423|REF_RGD_ID:2289944 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD associated with lung adenocarcinoma PMID:26254096|REF_RGD_ID:126790470 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634423 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002498 Wallerian Degeneration ISO RGD:69323 D RGD:9068941 20200609 RGD PMID:9030624|REF_RGD_ID:68774 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733426 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:18575766|REF_RGD_ID:2298499 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:16896008|REF_RGD_ID:2298501 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002801 Recurrence ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21638049 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23680147 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:26619011 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17465227|REF_RGD_ID:2289947 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:11206334|REF_RGD_ID:2289951 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:16962163|REF_RGD_ID:2289950 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:733426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12483526 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733426 D RGD:9068941 20200609 RGD PMID:17203220|REF_RGD_ID:2289979 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:69323 D RGD:9068941 20200609 RGD protein:increased expression:oral epithelium PMID:17704947|REF_RGD_ID:2289941 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733426 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10537356|REF_RGD_ID:2298505 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008420 Familial Erythroleukemia ISO RGD:733426 D RGD:7240710 20240306 OMIM 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008420 Familial Erythroleukemia ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DI GUGLIELMO DISEASE, FAMILIAL PMID:27416908 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:733426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733426 D RGD:9068941 20200609 RGD DNA:amplification PMID:18182100|REF_RGD_ID:2289942 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:733426 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:26619011 8743330 Erbb3 erb-b2 receptor tyrosine kinase 3 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:733426 D RGD:9068941 20210423 RGD PMID:24825912|REF_RGD_ID:126781774 8743381 Mrpl52 mitochondrial ribosomal protein L52 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8743381 Mrpl52 mitochondrial ribosomal protein L52 gene DOID:630 genetic disease ISO RGD:1319568 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743381 Mrpl52 mitochondrial ribosomal protein L52 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319568 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8743381 Mrpl52 mitochondrial ribosomal protein L52 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319568 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8743399 Fam133b family with sequence similarity 133 member B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8743399 Fam133b family with sequence similarity 133 member B gene DOID:630 genetic disease ISO RGD:1606931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743414 Rab1a RAB1A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743431 Znfx1 zinc finger NFX1-type containing 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1603622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 8743431 Znfx1 zinc finger NFX1-type containing 1 gene DOID:630 genetic disease ISO RGD:1603622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743431 Znfx1 zinc finger NFX1-type containing 1 gene DOID:9003310 IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION ISO RGD:1603622 D RGD:7240710 20220209 OMIM 8743431 Znfx1 zinc finger NFX1-type containing 1 gene DOID:9003310 IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION ISO RGD:1603622 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 91 and hyperinflammation PMID:25741868|PMID:33872655|PMID:33876776 8743448 Cacna2d3 calcium voltage-gated channel auxiliary subunit alpha2delta 3 gene DOID:630 genetic disease ISO RGD:1349571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743448 Cacna2d3 calcium voltage-gated channel auxiliary subunit alpha2delta 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8743533 Evx1 even-skipped homeobox 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8743533 Evx1 even-skipped homeobox 1 gene DOID:630 genetic disease ISO RGD:1344299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743540 Cplx1 complexin 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:735999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8743540 Cplx1 complexin 1 gene DOID:0080426 developmental and epileptic encephalopathy 63 ISO RGD:735999 D RGD:7240710 20190315 OMIM 8743540 Cplx1 complexin 1 gene DOID:0080426 developmental and epileptic encephalopathy 63 ISO RGD:735999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 63 PMID:25741868|PMID:26539891|PMID:28422131|PMID:28492532 8743540 Cplx1 complexin 1 gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:735999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 PMID:25741868 8743540 Cplx1 complexin 1 gene DOID:11832 visual epilepsy ISO RGD:733328 D RGD:9068941 20200609 RGD PMID:11163241|REF_RGD_ID:734813 8743540 Cplx1 complexin 1 gene DOID:1856 cherubism ISO RGD:735999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8743540 Cplx1 complexin 1 gene DOID:2468 psychotic disorder ISO RGD:735999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8743540 Cplx1 complexin 1 gene DOID:3312 bipolar disorder ISO RGD:735999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8743540 Cplx1 complexin 1 gene DOID:5419 schizophrenia ISO RGD:735999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8743540 Cplx1 complexin 1 gene DOID:630 genetic disease ISO RGD:735999 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8743540 Cplx1 complexin 1 gene DOID:9000495 Tremor ISO RGD:70944 D RGD:9068941 20210702 RGD PMID:31875236|REF_RGD_ID:127285808 8743540 Cplx1 complexin 1 gene DOID:9004866 Ataxia ISO RGD:70944 D RGD:9068941 20210702 RGD PMID:31875236|REF_RGD_ID:127285808 8743540 Cplx1 complexin 1 gene DOID:9004866 Ataxia ISO RGD:733328 D RGD:9068941 20200609 RGD PMID:11163241|REF_RGD_ID:734813 8743540 Cplx1 complexin 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:735999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 8743554 Ankrd66 ankyrin repeat domain 66 gene DOID:630 genetic disease ISO RGD:7204990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743562 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8743562 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8743562 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8743562 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:2526 prostate adenocarcinoma ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:26619011 8743562 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:2671 transitional cell carcinoma ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 8743562 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:3717 gastric adenocarcinoma ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 8743562 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8743562 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1322982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 8743562 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:8923 skin melanoma ISO RGD:1322982 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:25741868|PMID:26619011 8743562 Cnot9 CCR4-NOT transcription complex subunit 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322982 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: CNOT9-associated neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26619011 8743587 Nhp2 NHP2 ribonucleoprotein gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8743587 Nhp2 NHP2 ribonucleoprotein gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1319777 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532|PMID:31681265 8743587 Nhp2 NHP2 ribonucleoprotein gene DOID:0070017 autosomal recessive dyskeratosis congenita 2 ISO RGD:1319777 D RGD:7240710 20180130 OMIM 8743587 Nhp2 NHP2 ribonucleoprotein gene DOID:0070017 autosomal recessive dyskeratosis congenita 2 ISO RGD:1319777 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532 8743587 Nhp2 NHP2 ribonucleoprotein gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1319777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8743587 Nhp2 NHP2 ribonucleoprotein gene DOID:14748 Sotos syndrome ISO RGD:1319777 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8743587 Nhp2 NHP2 ribonucleoprotein gene DOID:2729 dyskeratosis congenita ISO RGD:1319777 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:18523010|PMID:25741868|PMID:28492532|PMID:31681265|PMID:31985013|PMID:36031433|PMID:36933847|PMID:9536098 8743587 Nhp2 NHP2 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1319777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31681265 8743587 Nhp2 NHP2 ribonucleoprotein gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1319777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8743606 Stum stum, mechanosensory transduction mediator homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1605215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8743606 Stum stum, mechanosensory transduction mediator homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8743635 Fzd9 frizzled class receptor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8743635 Fzd9 frizzled class receptor 9 gene DOID:12849 autistic disorder ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8743635 Fzd9 frizzled class receptor 9 gene DOID:1928 Williams-Beuren syndrome ISO RGD:734067 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8743635 Fzd9 frizzled class receptor 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8743635 Fzd9 frizzled class receptor 9 gene DOID:5419 schizophrenia ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8743635 Fzd9 frizzled class receptor 9 gene DOID:630 genetic disease ISO RGD:734067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743635 Fzd9 frizzled class receptor 9 gene DOID:8445 intestinal volvulus ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8743635 Fzd9 frizzled class receptor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8743635 Fzd9 frizzled class receptor 9 gene DOID:9008419 Volvulus Of Midgut ISO RGD:734067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8743639 Aif1 allograft inflammatory factor 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:735562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8743639 Aif1 allograft inflammatory factor 1 gene DOID:10554 meningoencephalitis ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:16150122|REF_RGD_ID:2313041 8743639 Aif1 allograft inflammatory factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:62217 D RGD:9068941 20200609 RGD protein:altered expression:hippocampus (mouse) PMID:19084047|REF_RGD_ID:2313023 8743639 Aif1 allograft inflammatory factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:735562 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex (human) PMID:16340083|REF_RGD_ID:2313045 8743639 Aif1 allograft inflammatory factor 1 gene DOID:10763 hypertension ISO RGD:735562 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 8743639 Aif1 allograft inflammatory factor 1 gene DOID:10825 essential hypertension ISO RGD:735562 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 8743639 Aif1 allograft inflammatory factor 1 gene DOID:11372 megacolon ISO RGD:735562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8743639 Aif1 allograft inflammatory factor 1 gene DOID:11832 visual epilepsy ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:16635480|REF_RGD_ID:2313039 8743639 Aif1 allograft inflammatory factor 1 gene DOID:12098 trigeminal neuralgia ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8743639 Aif1 allograft inflammatory factor 1 gene DOID:12217 Lewy body dementia ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8743639 Aif1 allograft inflammatory factor 1 gene DOID:14330 Parkinson's disease ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8743639 Aif1 allograft inflammatory factor 1 gene DOID:1824 status epilepticus ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus, brain subventricular zone (rat) PMID:17178407|REF_RGD_ID:2313036 8743639 Aif1 allograft inflammatory factor 1 gene DOID:1969 cerebral palsy ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:corpus callosum (rat) PMID:19010395|REF_RGD_ID:2313028 8743639 Aif1 allograft inflammatory factor 1 gene DOID:231 motor neuron disease ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:cervical spinal cord (rat) PMID:18931666|REF_RGD_ID:2313029 8743639 Aif1 allograft inflammatory factor 1 gene DOID:2316 brain ischemia ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:18301954|REF_RGD_ID:2313032 8743639 Aif1 allograft inflammatory factor 1 gene DOID:2349 arteriosclerosis ISO RGD:62217 D RGD:9068941 20200609 RGD PMID:18204784|REF_RGD_ID:2313033 8743639 Aif1 allograft inflammatory factor 1 gene DOID:2921 glomerulonephritis ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:17035944|REF_RGD_ID:2313038 8743639 Aif1 allograft inflammatory factor 1 gene DOID:3454 brain infarction ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:brain subventricular zone (rat) PMID:19053043|REF_RGD_ID:2313025 8743639 Aif1 allograft inflammatory factor 1 gene DOID:3454 brain infarction ISO RGD:735562 D RGD:9068941 20200609 RGD protein:increased expression:brain white matter (human) PMID:10683518|REF_RGD_ID:2313026 8743639 Aif1 allograft inflammatory factor 1 gene DOID:630 genetic disease ISO RGD:735562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61924 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord dorsal horn (rat) PMID:17158026|REF_RGD_ID:2313037 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9000641 Pain ISO RGD:61924 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:spinal cord dorsal horn (rat) PMID:18186080|REF_RGD_ID:2313034 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:61924 D RGD:9068941 20200609 RGD protein:decreased expression:brain (rat) PMID:19070908|REF_RGD_ID:2313024 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9000998 Brain Injuries ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:19520144|REF_RGD_ID:2313020 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:61924 D RGD:9068941 20200609 RGD PMID:9698327|REF_RGD_ID:704401 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9002211 Hyperalgesia ISO RGD:61924 D RGD:9068941 20200609 RGD associated with Alcohol-Induced Disorders, Nervous System; protein:increased expression:spinal cord (rat) PMID:17284346|REF_RGD_ID:2313035 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9002211 Hyperalgesia ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:61924 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord (rat) PMID:19246105|REF_RGD_ID:2313022 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:right cerebral hemisphere (rat) PMID:19447505|REF_RGD_ID:2313021 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:Kupffer cell (rat) PMID:16500929|REF_RGD_ID:2313040 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9005372 Inflammation ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (rat) PMID:19020040|REF_RGD_ID:2313027 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9006205 Animal Disease Models ISO RGD:735562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:15710454|REF_RGD_ID:2313042 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9007727 Alcohol-Induced Disorders, Nervous System ISO RGD:61924 D RGD:9068941 20200609 RGD protein:increased expression:cortex, hippocampus (rat) PMID:18585922|REF_RGD_ID:2313030 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735562 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs2259571 (human) PMID:18987644|REF_RGD_ID:2313199 8743639 Aif1 allograft inflammatory factor 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:61924 D RGD:9068941 20200609 RGD PMID:9391121|REF_RGD_ID:2313043 8743649 Pcdh7 protocadherin 7 gene DOID:630 genetic disease ISO RGD:1346973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743684 Znf575 zinc finger protein 575 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1312810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8743684 Znf575 zinc finger protein 575 gene DOID:5419 schizophrenia ISO RGD:1312810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8743684 Znf575 zinc finger protein 575 gene DOID:630 genetic disease ISO RGD:1312810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743696 Lrrc4b leucine rich repeat containing 4B gene DOID:630 genetic disease ISO RGD:1316128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743704 Capn11 calpain 11 gene DOID:630 genetic disease ISO RGD:1342957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743752 Kazald1 Kazal type serine peptidase inhibitor domain 1 gene DOID:630 genetic disease ISO RGD:1321754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743759 Otud6a OTU deubiquitinase 6A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8743759 Otud6a OTU deubiquitinase 6A gene DOID:12849 autistic disorder ISO RGD:1605871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8743759 Otud6a OTU deubiquitinase 6A gene DOID:630 genetic disease ISO RGD:1605871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743771 Adgrb3 adhesion G protein-coupled receptor B3 gene DOID:630 genetic disease ISO RGD:1320187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743771 Adgrb3 adhesion G protein-coupled receptor B3 gene DOID:9007661 Dwarfism ISO RGD:1320187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8743813 Rpl29 ribosomal protein L29 gene DOID:630 genetic disease ISO RGD:737093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743829 Mcrip1 MAPK regulated corepressor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1603840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743853 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:11054 urinary bladder cancer ISO RGD:1321381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 8743853 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:2234 focal epilepsy ISO RGD:1321381 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8743853 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:2671 transitional cell carcinoma ISO RGD:1321381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 8743853 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:630 genetic disease ISO RGD:1321381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743853 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:769 neuroblastoma ISO RGD:1321381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18577749 8743853 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:7788 adult spinal cord ependymoma ISO RGD:1321381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult spinal cord ependymoma 8743853 Chd6 chromodomain helicase DNA binding protein 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8743906 Tmem198 transmembrane protein 198 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8743906 Tmem198 transmembrane protein 198 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8743906 Tmem198 transmembrane protein 198 gene DOID:1148 polydactyly ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8743906 Tmem198 transmembrane protein 198 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8743906 Tmem198 transmembrane protein 198 gene DOID:630 genetic disease ISO RGD:1605296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743906 Tmem198 transmembrane protein 198 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8743980 Ephx1 epoxide hydrolase 1 gene DOID:0014667 disease of metabolism ISO RGD:736560 D RGD:9068941 20200609 RGD familial hypercholanemia,OMIM:607748;DNA:point mutations:promoter, intron PMID:12878321|REF_RGD_ID:1601066 8743980 Ephx1 epoxide hydrolase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736560 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8743980 Ephx1 epoxide hydrolase 1 gene DOID:0060058 lymphoma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 8743980 Ephx1 epoxide hydrolase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 8743980 Ephx1 epoxide hydrolase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:11406608|REF_RGD_ID:1601063 8743980 Ephx1 epoxide hydrolase 1 gene DOID:0080001 bone disease ISO RGD:736560 D RGD:9068941 20200609 RGD associated with Multiple Myeloma;DNA:SNP PMID:19657367|REF_RGD_ID:11252112 8743980 Ephx1 epoxide hydrolase 1 gene DOID:10320 asbestosis susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.Y113H (rs1051740) (human) PMID:17159790|REF_RGD_ID:4889408 8743980 Ephx1 epoxide hydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11283205|PMID:12173035 8743980 Ephx1 epoxide hydrolase 1 gene DOID:10591 pre-eclampsia ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:11283205|REF_RGD_ID:1601064 8743980 Ephx1 epoxide hydrolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:736560 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:16630050|REF_RGD_ID:5688388 8743980 Ephx1 epoxide hydrolase 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs PMID:19252927|REF_RGD_ID:2315930 8743980 Ephx1 epoxide hydrolase 1 gene DOID:1227 neutropenia ISO RGD:736560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 8743980 Ephx1 epoxide hydrolase 1 gene DOID:12449 aplastic anemia disease_progression ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:26999617|REF_RGD_ID:11252120 8743980 Ephx1 epoxide hydrolase 1 gene DOID:12449 aplastic anemia susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.H139R (human) PMID:21228718|REF_RGD_ID:11252118 8743980 Ephx1 epoxide hydrolase 1 gene DOID:14330 Parkinson's disease ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.Y113H (human) PMID:10720475|REF_RGD_ID:5490167 8743980 Ephx1 epoxide hydrolase 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.Y113H (499T>C), p.H139R (578A>G) (human) PMID:11692079|REF_RGD_ID:5688390 8743980 Ephx1 epoxide hydrolase 1 gene DOID:1485 cystic fibrosis ISO RGD:736560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucoviscidosis PMID:12704386|PMID:17532303|PMID:19017876|PMID:23426996|PMID:7516776|PMID:9288046 8743980 Ephx1 epoxide hydrolase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8743980 Ephx1 epoxide hydrolase 1 gene DOID:1579 respiratory system disease ISO RGD:736560 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:14593914|REF_RGD_ID:4889126 8743980 Ephx1 epoxide hydrolase 1 gene DOID:1790 malignant mesothelioma ISO RGD:736560 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:16697254 8743980 Ephx1 epoxide hydrolase 1 gene DOID:2355 anemia treatment ISO RGD:736560 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:24533712|REF_RGD_ID:11097078 8743980 Ephx1 epoxide hydrolase 1 gene DOID:2841 asthma susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:17711870|REF_RGD_ID:4889407 8743980 Ephx1 epoxide hydrolase 1 gene DOID:305 carcinoma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8743980 Ephx1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9288046 8743980 Ephx1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9288046|REF_RGD_ID:1601065 8743980 Ephx1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.H139R (rs2234922) (human) PMID:20932192|REF_RGD_ID:4889120 8743980 Ephx1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18614560|REF_RGD_ID:4889122 8743980 Ephx1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:17564249|REF_RGD_ID:4889123 8743980 Ephx1 epoxide hydrolase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:18811882|REF_RGD_ID:4889121 8743980 Ephx1 epoxide hydrolase 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.H139R (human) PMID:17022435|REF_RGD_ID:5490249 8743980 Ephx1 epoxide hydrolase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:17273734|REF_RGD_ID:4889124 8743980 Ephx1 epoxide hydrolase 1 gene DOID:5022 aflatoxins-related hepatocellular carcinoma ISO RGD:2557 D RGD:9068941 20220707 RGD associated with estrogen excess;protein:increased activity;liver (rat) PMID:6133380|REF_RGD_ID:152998935 8743980 Ephx1 epoxide hydrolase 1 gene DOID:630 genetic disease ISO RGD:736560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8743980 Ephx1 epoxide hydrolase 1 gene DOID:670 amphetamine abuse ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19598248 8743980 Ephx1 epoxide hydrolase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7892276 8743980 Ephx1 epoxide hydrolase 1 gene DOID:705 Leber hereditary optic neuropathy onset ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y113H (human) PMID:15838728|REF_RGD_ID:5688732 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9000972 Fever ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31422080 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2557 D RGD:9068941 20200609 RGD PMID:7260898|REF_RGD_ID:11252158 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17919073|PMID:21716162|PMID:24763052 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9003566 Mesothelioma ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:16697254|REF_RGD_ID:4889125 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26295053 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26840748 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358|PMID:17311802 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:736560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:25326635|PMID:25741868 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22156006 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29298899 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9007118 Familial Hypercholanemia ISO RGD:736560 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:12878321 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2336087 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29605894 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.Y113H, p.H139R (human) PMID:11849215|REF_RGD_ID:11252119 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs1051740, rs2234922 (human) PMID:22200898|REF_RGD_ID:11252114 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:20731606|REF_RGD_ID:11252115 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16949155 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma no_association ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:19736056|REF_RGD_ID:11252116 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2234922 (human) PMID:24521996|REF_RGD_ID:11252122 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:16949155|REF_RGD_ID:11252121 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9288046 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:12579334|REF_RGD_ID:4889405 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema ISO RGD:736560 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human) PMID:20525719|REF_RGD_ID:4140935 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) PMID:10853854|REF_RGD_ID:4889406 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.Y113H (rs1051740) (human) PMID:9288046|REF_RGD_ID:1601065 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:736560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983886 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs1051740, rs2234922 (human) PMID:22200898|REF_RGD_ID:11252114 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:exon:p.H139R (human) PMID:21983886|REF_RGD_ID:11252110 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD PMID:19593802|REF_RGD_ID:11252111 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:exon:p.Y113H (human) PMID:21983886|REF_RGD_ID:11252110 8743980 Ephx1 epoxide hydrolase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:736560 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon PMID:22930568|REF_RGD_ID:11252113 8744026 Lvrn laeverin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604505 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8744026 Lvrn laeverin gene DOID:12849 autistic disorder ISO RGD:1604505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8744026 Lvrn laeverin gene DOID:630 genetic disease ISO RGD:1604505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744026 Lvrn laeverin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8744026 Lvrn laeverin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604505 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8744052 Zcchc17 zinc finger CCHC-type containing 17 gene DOID:630 genetic disease ISO RGD:1604815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744076 Klhl31 kelch like family member 31 gene DOID:14717 centronuclear myopathy ISO RGD:1619800 D RGD:9068941 20220825 MouseDO OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959 8744076 Klhl31 kelch like family member 31 gene DOID:630 genetic disease ISO RGD:1348720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744085 Lrrc40 leucine rich repeat containing 40 gene DOID:1059 intellectual disability ISO RGD:1601993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8744085 Lrrc40 leucine rich repeat containing 40 gene DOID:630 genetic disease ISO RGD:1601993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744107 Rasl12 RAS like family 12 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 8744107 Rasl12 RAS like family 12 gene DOID:13250 diarrhea ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:25741868|PMID:28898457 8744107 Rasl12 RAS like family 12 gene DOID:2717 Bloom syndrome ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8744107 Rasl12 RAS like family 12 gene DOID:630 genetic disease ISO RGD:1314790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8744107 Rasl12 RAS like family 12 gene DOID:9002010 Primary Bile Acid Malabsorption 2 ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 PMID:25741868|PMID:28898457 8744107 Rasl12 RAS like family 12 gene DOID:9256 colorectal cancer ISO RGD:1314790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8744143 Zw10 zw10 kinetochore protein gene DOID:1059 intellectual disability ISO RGD:1319405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8744143 Zw10 zw10 kinetochore protein gene DOID:3347 osteosarcoma ISO RGD:1319405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 8744143 Zw10 zw10 kinetochore protein gene DOID:630 genetic disease ISO RGD:1319405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744143 Zw10 zw10 kinetochore protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596469|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26148514|PMID:26446091|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27441201|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30478917|PMID:30776697|PMID:30866059|PMID:30945278|PMID:30977854|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31780880|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10482260|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28503627|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28940419|PMID:29056246|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30866059|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9536098|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30459225|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31069529|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35468861|PMID:35557555|PMID:35770094|PMID:35906921|PMID:36539902|PMID:36849527|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:736657 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 ISO RGD:736657 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 PMID:19453707|PMID:23708187|PMID:24375629|PMID:25741868|PMID:25959266|PMID:26138355|PMID:26704558|PMID:27535030|PMID:28492532|PMID:28733343|PMID:29390993|PMID:29455050|PMID:29852413|PMID:31780880|PMID:32139178|PMID:32917465|PMID:34055682|PMID:34120799|PMID:35104249|PMID:9425895 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:736657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:736657 D RGD:7240710 20180130 OMIM 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080462 developmental and epileptic encephalopathy 7 ISO RGD:736657 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 | ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy PMID:11572947|PMID:11690625|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15030501|PMID:15249611|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17435769|PMID:17475800|PMID:17576681|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19453707|PMID:20119593|PMID:20437616|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23291709|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24848745|PMID:25052858|PMID:25092550|PMID:25262651|PMID:25326635|PMID:25326637|PMID:25473036|PMID:25566516|PMID:25590979|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26544041|PMID:26594844|PMID:26704558|PMID:26993267|PMID:27334371|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27734276|PMID:27779742|PMID:27781029|PMID:27861786|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29190809|PMID:29263209|PMID:29314763|PMID:29383681|PMID:29390993|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:30109124|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30515704|PMID:30552426|PMID:30776697|PMID:31069529|PMID:31105003|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31564432|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32585800|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:35377796|PMID:35468861|PMID:35557555|PMID:35770094|PMID:35906921|PMID:36849527|PMID:9425895|PMID:9430594|PMID:9536098|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:736657 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:14534157|PMID:23692823|PMID:25741868|PMID:27779742|PMID:28492532 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:736657 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0111298 familial febrile seizures 8 ISO RGD:736657 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 8 PMID:25326635|PMID:25741868|PMID:25959266|PMID:27864847|PMID:28492532|PMID:31418850 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10482260|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28503627|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28940419|PMID:29056246|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30866059|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9536098|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736657 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30459225|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31069529|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35468861|PMID:35557555|PMID:35770094|PMID:35906921|PMID:36539902|PMID:36849527|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1059 intellectual disability ISO RGD:736657 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28602030|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:34354098|PMID:34395220 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1059 intellectual disability ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1059 intellectual disability ISO RGD:736657 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220|PMID:35104249 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1059 intellectual disability ISO RGD:736657 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: intellectual disabilities PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28602030|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220|PMID:35104249 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:12849 autistic disorder ISO RGD:736657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25533962|PMID:25741868|PMID:28492532|PMID:28867141 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:12849 autistic disorder ISO RGD:736657 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25533962|PMID:25741868|PMID:28492532|PMID:28867141|PMID:35104249 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:14264 benign neonatal seizures ISO RGD:736657 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:18625963|PMID:19464834|PMID:28492532 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:736657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign familial neonatal seizures PMID:18625963|PMID:19464834|PMID:28492532 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizures PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:1826 epilepsy ISO RGD:736657 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17576681|PMID:20119593|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:24107868|PMID:24318194|PMID:25533962|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25982755|PMID:26795593|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28133863|PMID:28492532|PMID:28867141|PMID:29056246|PMID:29655203|PMID:29720203|PMID:32860008|PMID:3360469|PMID:34711204|PMID:35104249|PMID:9536098 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:736657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign Rolandic epilepsy PMID:18625963 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:543 dystonia ISO RGD:736657 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Limb dystonia PMID:12754513|PMID:22275249|PMID:24318194|PMID:25741868|PMID:25880994|PMID:28492532|PMID:29760947|PMID:31152295|PMID:31832524|PMID:32139178|PMID:32573669|PMID:32581362|PMID:32917465|PMID:34711204|PMID:35104249 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:630 genetic disease ISO RGD:736657 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10684873|PMID:11572947|PMID:11690625|PMID:12742592|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25262651|PMID:25740509|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:26993267|PMID:27334371|PMID:27466704|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28628100|PMID:28717674|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29263209|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29760947|PMID:30185235|PMID:30440138|PMID:30552426|PMID:31069529|PMID:31105003|PMID:31152295|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32362866|PMID:32573669|PMID:32581362|PMID:32770121|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33754465|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:9425895|PMID:9836639|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:863 nervous system disease ISO RGD:736657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9000419 Benign Familial Neonatal Seizures, 1 ISO RGD:736657 D RGD:7240710 20180130 OMIM 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9000419 Benign Familial Neonatal Seizures, 1 ISO RGD:736657 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: KCNQ2-related condition | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia PMID:10323247|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14669214|PMID:14985406|PMID:15030501|PMID:15178210|PMID:15249611|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18006581|PMID:18246739|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19559753|PMID:19818940|PMID:20119593|PMID:20437616|PMID:21913284|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23290024|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24759409|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26993267|PMID:27334371|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28602030|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29655203|PMID:29726930|PMID:29852413|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30440138|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31780880|PMID:32139178|PMID:32184343|PMID:32362866|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:33754465|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:35468861|PMID:35557555|PMID:36849527|PMID:4055306|PMID:7980108|PMID:9425895|PMID:9430594|PMID:9536098|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:736657 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:20437616|PMID:23621294|PMID:23692823|PMID:23934111|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25741868|PMID:25880994|PMID:25959266|PMID:26007637|PMID:27535030|PMID:27602407|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28973083|PMID:29186148|PMID:29655203|PMID:31418850|PMID:32179837|PMID:32581362|PMID:35104249 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:736657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 PMID:12742592|PMID:15249611|PMID:17129708|PMID:18625963|PMID:19464834|PMID:28492532|PMID:29314763|PMID:31199083 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736657 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12754513|PMID:22275249|PMID:24318194|PMID:25741868|PMID:25880994|PMID:28492532|PMID:29760947|PMID:31152295|PMID:31832524|PMID:32139178|PMID:32573669|PMID:32581362|PMID:32917465|PMID:34711204|PMID:35104249 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:736657 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:11175290|PMID:11572947|PMID:11784811|PMID:12754513|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17129708|PMID:17475800|PMID:17872363|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:20437616|PMID:21685056|PMID:22169383|PMID:22275249|PMID:22455920|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25590979|PMID:25740509|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26704558|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29390993|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29760947|PMID:29852413|PMID:30109124|PMID:30126342|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31199083|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32184343|PMID:32573669|PMID:32581362|PMID:32712949|PMID:32860008|PMID:32917465|PMID:33754465|PMID:34055682|PMID:34120799|PMID:34711204|PMID:35104249|PMID:35906921|PMID:4055306|PMID:9425895|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9006888 Benign Neonatal Epilepsy, 1 ISO RGD:736657 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17475800|PMID:17576681|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19559753|PMID:20119593|PMID:20437616|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24759409|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26993267|PMID:27334371|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28602030|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29655203|PMID:29726930|PMID:29852413|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30440138|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31780880|PMID:32139178|PMID:32184343|PMID:32362866|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:33754465|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:35468861|PMID:35557555|PMID:36849527|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736657 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12754513|PMID:22275249|PMID:24318194|PMID:25741868|PMID:25880994|PMID:28492532|PMID:29760947|PMID:31152295|PMID:31832524|PMID:32139178|PMID:32573669|PMID:32581362|PMID:32917465|PMID:34711204|PMID:35104249 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008347 Benign Neonatal Epilepsy 1, and/or Myokymia ISO RGD:736657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia PMID:24375629|PMID:25741868 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:736657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8744167 Kcnq2 potassium voltage-gated channel subfamily Q member 2 gene DOID:936 brain disease ISO RGD:736657 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868|PMID:28492532 8744226 Invs inversin gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8744226 Invs inversin gene DOID:0080322 polycystic kidney disease severity ISO RGD:1557314 D RGD:9068941 20230107 RGD PMID:16999740|REF_RGD_ID:155794378 8744226 Invs inversin gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8744226 Invs inversin gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8744226 Invs inversin gene DOID:0111112 nephronophthisis 1 ISO RGD:1604022 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872123|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25525159|PMID:25741868|PMID:28492532|PMID:33532864 8744226 Invs inversin gene DOID:0111113 nephronophthisis 2 ISO RGD:1604022 D RGD:7240710 20180130 OMIM 8744226 Invs inversin gene DOID:0111113 nephronophthisis 2 ISO RGD:1604022 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 2, infantile PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:22773737|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33323469|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098 8744226 Invs inversin gene DOID:1059 intellectual disability ISO RGD:1604022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8744226 Invs inversin gene DOID:10763 hypertension ISO RGD:1604022 D RGD:9068941 20230107 RGD associated with nephronophthisis 2; PMID:19177160|REF_RGD_ID:155791686 8744226 Invs inversin gene DOID:12712 nephronophthisis ISO RGD:1604022 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:12872123|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:28492532|PMID:33532864|PMID:34298581|PMID:9536098 8744226 Invs inversin gene DOID:12712 nephronophthisis ISO RGD:1604022 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11935322|PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098 8744226 Invs inversin gene DOID:12712 nephronophthisis ISO RGD:1604022 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11935322|PMID:12872123|PMID:15852005|PMID:16199547|PMID:16522655|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19177160|PMID:20798123|PMID:21866095|PMID:22773737|PMID:23559409|PMID:23713026|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26489027|PMID:26862157|PMID:2702088|PMID:28492532|PMID:30029678|PMID:31131822|PMID:32173348|PMID:32335886|PMID:33323469|PMID:33532864|PMID:34031707|PMID:34295353|PMID:34298581|PMID:9536098 8744226 Invs inversin gene DOID:13580 cholestasis ISO RGD:1557314 D RGD:9068941 20230107 RGD PMID:10421642|REF_RGD_ID:155791685 8744226 Invs inversin gene DOID:14004 thoracic aortic aneurysm ISO RGD:1604022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8744226 Invs inversin gene DOID:2975 cystic kidney disease ISO RGD:1557314 D RGD:9068941 20230107 RGD PMID:24586938|REF_RGD_ID:155794377 8744226 Invs inversin gene DOID:557 kidney disease ISO RGD:1604022 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17855640|PMID:24033266|PMID:25741868|PMID:28492532 8744226 Invs inversin gene DOID:630 genetic disease ISO RGD:1604022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8744226 Invs inversin gene DOID:6419 tetralogy of Fallot ISO RGD:1557314 D RGD:9068941 20220825 MouseDO OMIM:187500 8744226 Invs inversin gene DOID:9004898 Jaundice ISO RGD:1557314 D RGD:9068941 20230107 RGD PMID:10421642|REF_RGD_ID:155791685 8744251 Lyg1 lysozyme g1 gene DOID:630 genetic disease ISO RGD:1602188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744271 Tmprss9 transmembrane serine protease 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1617167 D RGD:9068941 20220825 MouseDO 8744271 Tmprss9 transmembrane serine protease 9 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1319995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8744271 Tmprss9 transmembrane serine protease 9 gene DOID:630 genetic disease ISO RGD:1319995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8744271 Tmprss9 transmembrane serine protease 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8744271 Tmprss9 transmembrane serine protease 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1319995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8744291 Ano3 anoctamin 3 gene DOID:0090052 dystonia 24 ISO RGD:1318896 D RGD:7240710 20180130 OMIM 8744291 Ano3 anoctamin 3 gene DOID:0090052 dystonia 24 ISO RGD:1318896 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dystonia 24 PMID:11009204|PMID:23200863|PMID:25741868|PMID:27666935|PMID:28492532|PMID:31053532|PMID:33388357 8744291 Ano3 anoctamin 3 gene DOID:1059 intellectual disability ISO RGD:1318896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8744291 Ano3 anoctamin 3 gene DOID:543 dystonia ISO RGD:1318896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder PMID:16199547|PMID:17576681|PMID:25741868|PMID:27666935|PMID:28492532|PMID:29449182|PMID:30502610|PMID:31053532|PMID:9536098 8744291 Ano3 anoctamin 3 gene DOID:630 genetic disease ISO RGD:1318896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8744291 Ano3 anoctamin 3 gene DOID:9002211 Hyperalgesia ISO RGD:1308873 D RGD:9068941 20200609 RGD PMID:23872594|REF_RGD_ID:9681745 8744291 Ano3 anoctamin 3 gene DOID:9007956 Febrile Seizures ISO RGD:1318896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344690 8744325 Zc2hc1c zinc finger C2HC-type containing 1C gene DOID:1059 intellectual disability ISO RGD:1316129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8744325 Zc2hc1c zinc finger C2HC-type containing 1C gene DOID:630 genetic disease ISO RGD:1316129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744334 Nrros negative regulator of reactive oxygen species gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8744334 Nrros negative regulator of reactive oxygen species gene DOID:12849 autistic disorder ISO RGD:1602040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8744334 Nrros negative regulator of reactive oxygen species gene DOID:5419 schizophrenia ISO RGD:1602040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8744334 Nrros negative regulator of reactive oxygen species gene DOID:630 genetic disease ISO RGD:1602040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8744334 Nrros negative regulator of reactive oxygen species gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8744334 Nrros negative regulator of reactive oxygen species gene DOID:9006016 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS ISO RGD:1602040 D RGD:7240710 20200819 OMIM 8744334 Nrros negative regulator of reactive oxygen species gene DOID:9006016 SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS ISO RGD:1602040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, early-onset, with neurodegeneration and brain calcifications PMID:25741868|PMID:28492532|PMID:32100099|PMID:32197075 8744344 Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 gene DOID:3652 Leigh disease ISO RGD:1321659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome 8744344 Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1321659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease 8744344 Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 gene DOID:630 genetic disease ISO RGD:1321659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744360 Rbm47 RNA binding motif protein 47 gene DOID:630 genetic disease ISO RGD:1642917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744360 Rbm47 RNA binding motif protein 47 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1642917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8744360 Rbm47 RNA binding motif protein 47 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1642917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:0050548 hereditary sensory neuropathy ISO RGD:12301711 D RGD:9068941 20230824 OMIA Acral mutilation syndrome PMID:15842538|PMID:20961556|PMID:28033318|PMID:30955094|PMID:37582787|PMID:4725277|PMID:6203326|PMID:6259871|PMID:6574711 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:0050771 pheochromocytoma ISO RGD:735823 D RGD:9068941 20210820 CTD CTD Direct Evidence: marker/mechanism PMID:9215674 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:0060161 Kennedy's disease ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:10447463|REF_RGD_ID:6218978 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735823 D RGD:9068941 20210820 CTD CTD Direct Evidence: marker/mechanism PMID:9497256 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:2677 D RGD:9068941 20200609 RGD PMID:21865882|REF_RGD_ID:6218962 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:2677 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:22186119|REF_RGD_ID:5686884 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12213621|PMID:9266731 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:0080855 Parkinsonism treatment ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:16018990|REF_RGD_ID:8657066 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:10487 Hirschsprung's disease ISO RGD:735823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10790203|PMID:10917288|PMID:11565554|PMID:11823451|PMID:12640453|PMID:19184120|PMID:21206993|PMID:22729463|PMID:24033266|PMID:24997227|PMID:25741868|PMID:28492532|PMID:8896568|PMID:8896569|PMID:8968758|PMID:9215674|PMID:9359036|PMID:9497256 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:10487 Hirschsprung's disease susceptibility ISO RGD:735823 D RGD:7240710 20190502 OMIM 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA, protein:alternate form, decreased expression:brain PMID:22081608|REF_RGD_ID:5688777 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:11446 sciatic neuropathy ISO RGD:2677 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve PMID:10852218|REF_RGD_ID:6218977 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:12689 acoustic neuroma ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral nerve: PMID:19937367|REF_RGD_ID:8655552 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:12842 Guillain-Barre syndrome ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16943855 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:1289 neurodegenerative disease ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11592846 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:12894 Sjogren's syndrome ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:13548 secondary Parkinson disease ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19909981 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11031079|PMID:16324109 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA:increased expression:putamen PMID:16644101|REF_RGD_ID:6218968 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:1574 alcohol use disorder ISO RGD:735823 D RGD:9068941 20240210 RGD protein:increased expression:serum PMID:25623403|REF_RGD_ID:401965480 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:1793 pancreatic cancer severity ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:18652760|REF_RGD_ID:2324925 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12914250|PMID:7854063 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:1826 epilepsy ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:19162016|REF_RGD_ID:6218965 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:3049 Churg-Strauss syndrome ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:3068 glioblastoma ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:3070 high grade glioma ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:3181 oligodendroglioma ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735823 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:10447463|REF_RGD_ID:6218978 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2677 D RGD:9068941 20210122 RGD PMID:29497380|REF_RGD_ID:40925919 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:4752 multiple system atrophy ISO RGD:10631 D RGD:9068941 20200609 RGD PMID:22281106|REF_RGD_ID:5688775 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:735823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:670 amphetamine abuse ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17356005 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:8466 retinal degeneration ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17935603 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:10631 D RGD:9068941 20200609 RGD PMID:22342994|REF_RGD_ID:5688774 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:2677 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18501516|REF_RGD_ID:2324932 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20457222 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:9003814 Neurologic Manifestations ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19894114 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:10631 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:15950786|REF_RGD_ID:8657070 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14622243|PMID:15899247 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:9005834 Ependymomas ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138852 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:2677 D RGD:9068941 20240127 RGD protein:decreased expression:hippocampus,urine PMID:36688960|REF_RGD_ID:401959611 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2677 D RGD:9068941 20200609 RGD PMID:15144875|REF_RGD_ID:6218970 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:735823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11168568 8744389 Gdnf glial cell derived neurotrophic factor gene DOID:9810 polyarteritis nodosa ISO RGD:735823 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 8744441 Parp10 poly(ADP-ribose) polymerase family member 10 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1348193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8744441 Parp10 poly(ADP-ribose) polymerase family member 10 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1348193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8744441 Parp10 poly(ADP-ribose) polymerase family member 10 gene DOID:4621 holoprosencephaly ISO RGD:1348193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8744441 Parp10 poly(ADP-ribose) polymerase family member 10 gene DOID:630 genetic disease ISO RGD:1348193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744441 Parp10 poly(ADP-ribose) polymerase family member 10 gene DOID:9008086 Developmental Disabilities ISO RGD:1348193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868 8744471 Slc23a1 solute carrier family 23 member 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1342862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8744471 Slc23a1 solute carrier family 23 member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8744471 Slc23a1 solute carrier family 23 member 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1342862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8744471 Slc23a1 solute carrier family 23 member 1 gene DOID:11162 respiratory failure ISO RGD:1342862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11984597 8744471 Slc23a1 solute carrier family 23 member 1 gene DOID:13580 cholestasis ISO RGD:1342862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18706437 8744471 Slc23a1 solute carrier family 23 member 1 gene DOID:630 genetic disease ISO RGD:1342862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744471 Slc23a1 solute carrier family 23 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8744471 Slc23a1 solute carrier family 23 member 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1342862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11984597 8744471 Slc23a1 solute carrier family 23 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8744471 Slc23a1 solute carrier family 23 member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8744501 Pdzd11 PDZ domain containing 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8744501 Pdzd11 PDZ domain containing 11 gene DOID:12849 autistic disorder ISO RGD:1350594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8744501 Pdzd11 PDZ domain containing 11 gene DOID:1826 epilepsy ISO RGD:1350594 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8744501 Pdzd11 PDZ domain containing 11 gene DOID:630 genetic disease ISO RGD:1350594 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744522 Nanos2 nanos C2HC-type zinc finger 2 gene DOID:12336 male infertility ISO RGD:1354099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22190708 8744522 Nanos2 nanos C2HC-type zinc finger 2 gene DOID:630 genetic disease ISO RGD:1354099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744537 Csrnp1 cysteine and serine rich nuclear protein 1 gene DOID:0080600 COVID-19 ISO RGD:1314362 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8744537 Csrnp1 cysteine and serine rich nuclear protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16243910 8744537 Csrnp1 cysteine and serine rich nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1314362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744537 Csrnp1 cysteine and serine rich nuclear protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1314362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8744555 Dusp7 dual specificity phosphatase 7 gene DOID:0080600 COVID-19 ISO RGD:1350752 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8744555 Dusp7 dual specificity phosphatase 7 gene DOID:630 genetic disease ISO RGD:1350752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744562 Dusp18 dual specificity phosphatase 18 gene DOID:630 genetic disease ISO RGD:1315821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:0070446 mitochondrial DNA depletion syndrome 16 ISO RGD:1312978 D RGD:7240710 20190904 OMIM 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:0070446 mitochondrial DNA depletion syndrome 16 ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 16 (hepatic type) PMID:25741868|PMID:28492532 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:0070447 mitochondrial DNA depletion syndrome 16B ISO RGD:1312978 D RGD:7240710 20210825 OMIM 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:0070447 mitochondrial DNA depletion syndrome 16B ISO RGD:1312978 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) PMID:25741868|PMID:28492532|PMID:31778857 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:1312978 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 PMID:25741868|PMID:27592148|PMID:28492532|PMID:30157269 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312978 D RGD:7240710 20180130 OMIM 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312978 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 PMID:16685652|PMID:19513667|PMID:21138766|PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:27592148|PMID:28078310|PMID:28492532|PMID:29625556|PMID:30157269 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:21555342|PMID:25741868|PMID:28492532 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:12679 nephrocalcinosis ISO RGD:1312979 D RGD:9068941 20220825 MouseDO 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:28492532|PMID:31286721 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:630 genetic disease ISO RGD:1312978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:9004590 Acute Liver Failure ISO RGD:1312978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute hepatic failure PMID:25741868|PMID:27592148|PMID:28492532|PMID:30157269 8744578 Polg2 DNA polymerase gamma 2, accessory subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1312979 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22229649|REF_RGD_ID:8694187 8744595 Emb embigin gene DOID:3042 allergic contact dermatitis ISO RGD:1342878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8744595 Emb embigin gene DOID:630 genetic disease ISO RGD:1342878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744595 Emb embigin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8744595 Emb embigin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8744623 Prrc1 proline rich coiled-coil 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8744623 Prrc1 proline rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1601934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744623 Prrc1 proline rich coiled-coil 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8744623 Prrc1 proline rich coiled-coil 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601934 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8744635 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080070 mucolipidosis II alpha/beta ISO RGD:1603959 D RGD:7240710 20180130 OMIM 8744635 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080070 mucolipidosis II alpha/beta ISO RGD:1603959 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inclusion cell disease | ClinVar Annotator: match by term: Mucolipidosis type II PMID:15633164|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17034777|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20301730|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:22495880|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23773965|PMID:23926388|PMID:24033266|PMID:24045841|PMID:24060719|PMID:24375680|PMID:24550498|PMID:24767253|PMID:24798265|PMID:24807205|PMID:25107912|PMID:25473036|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26274329|PMID:26385638|PMID:26633542|PMID:27180337|PMID:27239697|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28396763|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29140481|PMID:29704188|PMID:29872134|PMID:29966168|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31003007|PMID:31130284|PMID:31319225|PMID:31405983|PMID:31579991|PMID:31589614|PMID:31603145|PMID:31795562|PMID:31934135|PMID:32014045|PMID:32341820|PMID:32651481|PMID:32746448|PMID:32860008|PMID:33594065|PMID:34008892|PMID:34426522|PMID:34440436|PMID:34645491|PMID:35463894|PMID:9536098 8744635 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080071 mucolipidosis III alpha/beta ISO RGD:1603959 D RGD:7240710 20180130 OMIM 8744635 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080071 mucolipidosis III alpha/beta ISO RGD:1603959 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta | ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:15633164|PMID:16094673|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26385638|PMID:26633542|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31589614|PMID:31934135|PMID:32651481|PMID:34426522|PMID:34440436|PMID:34645491|PMID:9536098 8744635 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0080488 mucolipidosis ISO RGD:1603959 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:15633164|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17034777|PMID:17576681|PMID:19197337|PMID:19617216|PMID:19634183|PMID:20301728|PMID:21416587|PMID:21549105|PMID:22495880|PMID:22570975|PMID:23227064|PMID:23566849|PMID:23773965|PMID:23926388|PMID:24033266|PMID:24045841|PMID:24375680|PMID:24798265|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26385638|PMID:27662472|PMID:28095893|PMID:28396763|PMID:28492532|PMID:28649523|PMID:29704188|PMID:29872134|PMID:30105123|PMID:30208878|PMID:30882951|PMID:31130284|PMID:31579991|PMID:31934135|PMID:32651481|PMID:9536098 8744635 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:16465621|PMID:17576681|PMID:19617216|PMID:19938078|PMID:20301728|PMID:23192343|PMID:24045841|PMID:24550498|PMID:25107912|PMID:25505245|PMID:25741868|PMID:28492532|PMID:34008892|PMID:9536098 8744635 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:14415 Legg-Calve-Perthes disease ISO RGD:1603959 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Legg-Calve-Perthes disease PMID:19617216|PMID:20301728|PMID:23566849|PMID:25505245|PMID:25741868|PMID:25788519|PMID:28492532 8744635 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:3343 glycoproteinosis ISO RGD:1603959 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:15633164|PMID:16094673|PMID:16116615|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31934135|PMID:9536098 8744635 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:3343 glycoproteinosis ISO RGD:1603959 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis PMID:15633164|PMID:16094673|PMID:16116615|PMID:16199547|PMID:16200072|PMID:16465621|PMID:16630736|PMID:17576681|PMID:18190596|PMID:19197337|PMID:19617216|PMID:19634183|PMID:19659762|PMID:19938078|PMID:20147709|PMID:20301728|PMID:20886637|PMID:20944643|PMID:21416587|PMID:21549105|PMID:23192343|PMID:23227064|PMID:23566849|PMID:23926388|PMID:24045841|PMID:24375680|PMID:24550498|PMID:24767253|PMID:25107912|PMID:25505245|PMID:25525159|PMID:25741868|PMID:25788519|PMID:26130485|PMID:26385638|PMID:26633542|PMID:26749367|PMID:27180337|PMID:27662472|PMID:27710913|PMID:28095893|PMID:28492532|PMID:28649523|PMID:28918368|PMID:29704188|PMID:29872134|PMID:30208878|PMID:30882951|PMID:31579991|PMID:31589614|PMID:31934135|PMID:32651481|PMID:34426522|PMID:34440436|PMID:34645491|PMID:9536098 8744635 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:630 genetic disease ISO RGD:1603959 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16465621|PMID:17576681|PMID:19617216|PMID:25107912|PMID:25741868|PMID:26130485|PMID:28492532|PMID:30882951|PMID:34645491|PMID:9536098 8744635 Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta gene DOID:9004041 Mucolipidosis III Alpha Beta, Atypical ISO RGD:1603959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical PMID:15633164|PMID:17576681|PMID:28492532|PMID:9536098 8744666 Cenpw centromere protein W gene DOID:0080600 COVID-19 ISO RGD:1350206 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8744666 Cenpw centromere protein W gene DOID:630 genetic disease ISO RGD:1350206 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744666 Cenpw centromere protein W gene DOID:684 hepatocellular carcinoma ISO RGD:1350206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8744673 Itpr2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:0060603 isolated anhidrosis with normal sweat glands ISO RGD:734228 D RGD:7240710 20180130 OMIM 8744673 Itpr2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:0060603 isolated anhidrosis with normal sweat glands ISO RGD:734228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated anhidrosis with normal sweat glands PMID:25329695|PMID:25741868|PMID:28492532 8744673 Itpr2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:1059 intellectual disability ISO RGD:734228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8744673 Itpr2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:10591 pre-eclampsia ISO RGD:734228 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8744673 Itpr2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:11714 gestational diabetes ISO RGD:734228 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8744673 Itpr2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:734228 D RGD:9068941 20200609 RGD DNA:snp:intron:g.26636386A>G rs2306677 (human) PMID:17827064|REF_RGD_ID:6482791 8744673 Itpr2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:630 genetic disease ISO RGD:734228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744673 Itpr2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:9003936 Cardiomegaly ISO RGD:734228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20616315 8744673 Itpr2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:9004756 Brain Hypoxia ISO RGD:734228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17285299 8744673 Itpr2 inositol 1,4,5-trisphosphate receptor type 2 gene DOID:9004756 Brain Hypoxia ISO RGD:737250 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebellum (mouse) PMID:17285299|REF_RGD_ID:6482794 8744735 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1347066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 8744735 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:0070538 syndromic X-linked intellectual developmental disorder Bain type ISO RGD:1347066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE PMID:25741868 8744735 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1347066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8744735 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:12894 Sjogren's syndrome ISO RGD:1347066 D RGD:9068941 20200609 RGD PMID:19264855|REF_RGD_ID:10054311 8744735 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:14748 Sotos syndrome ISO RGD:1347066 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8744735 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:630 genetic disease ISO RGD:1347066 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27545675|PMID:29938792|PMID:32335897|PMID:32685970 8744735 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347066 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:23633480|REF_RGD_ID:9685423 8744735 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:620840 D RGD:9068941 20200609 RGD PMID:16092147|REF_RGD_ID:1624236 8744735 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 8744735 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9006270 Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects ISO RGD:1347066 D RGD:7240710 20221102 OMIM 8744735 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9006270 Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects ISO RGD:1347066 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects PMID:25741868|PMID:27545675|PMID:29938792|PMID:32335897|PMID:32685970 8744735 Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1347066 D RGD:9068941 20200609 RGD protein:decreased expression:colonic epithelium, nucleus (human) PMID:21194727|REF_RGD_ID:9999439 8744759 Rhbdd2 rhomboid domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8744759 Rhbdd2 rhomboid domain containing 2 gene DOID:630 genetic disease ISO RGD:1317887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744759 Rhbdd2 rhomboid domain containing 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1317887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8744770 Plcd4 phospholipase C delta 4 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8744770 Plcd4 phospholipase C delta 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8744770 Plcd4 phospholipase C delta 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8744770 Plcd4 phospholipase C delta 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8744770 Plcd4 phospholipase C delta 4 gene DOID:630 genetic disease ISO RGD:1346447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744770 Plcd4 phospholipase C delta 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8744796 Lgals4 galectin 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351726 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8744796 Lgals4 galectin 4 gene DOID:630 genetic disease ISO RGD:1351726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744796 Lgals4 galectin 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351726 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8744823 Septin10 septin 10 gene DOID:0080600 COVID-19 ISO RGD:1606447 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8744823 Septin10 septin 10 gene DOID:630 genetic disease ISO RGD:1606447 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744839 Dagla diacylglycerol lipase alpha gene DOID:0050773 paraganglioma ISO RGD:1343376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 8744839 Dagla diacylglycerol lipase alpha gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8744839 Dagla diacylglycerol lipase alpha gene DOID:1059 intellectual disability ISO RGD:1343376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8744839 Dagla diacylglycerol lipase alpha gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1343376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 8744839 Dagla diacylglycerol lipase alpha gene DOID:1324 lung cancer ISO RGD:1343376 D RGD:9068941 20220217 RGD DNA:SNP:rs60507107 (human) PMID:25592173|REF_RGD_ID:151356746 8744839 Dagla diacylglycerol lipase alpha gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1343376 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:25741868 8744839 Dagla diacylglycerol lipase alpha gene DOID:630 genetic disease ISO RGD:1343376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744839 Dagla diacylglycerol lipase alpha gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1343376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 8744866 Slc22a3 solute carrier family 22 member 3 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1351828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8744866 Slc22a3 solute carrier family 22 member 3 gene DOID:303 substance-related disorder ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17010131 8744866 Slc22a3 solute carrier family 22 member 3 gene DOID:630 genetic disease ISO RGD:1351828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744866 Slc22a3 solute carrier family 22 member 3 gene DOID:820 myocarditis ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 8744866 Slc22a3 solute carrier family 22 member 3 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641380 8744866 Slc22a3 solute carrier family 22 member 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:735816 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:23228442|REF_RGD_ID:7243178 8744866 Slc22a3 solute carrier family 22 member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 8744866 Slc22a3 solute carrier family 22 member 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8744866 Slc22a3 solute carrier family 22 member 3 gene DOID:9970 obesity ISO RGD:1351828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27401566 8744881 Ddx53 DEAD-box helicase 53 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8744881 Ddx53 DEAD-box helicase 53 gene DOID:1184 nephrotic syndrome ISO RGD:1604977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 8744881 Ddx53 DEAD-box helicase 53 gene DOID:12849 autistic disorder ISO RGD:1604977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8744881 Ddx53 DEAD-box helicase 53 gene DOID:630 genetic disease ISO RGD:1604977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744881 Ddx53 DEAD-box helicase 53 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8744887 Smyd1 SET and MYND domain containing 1 gene DOID:630 genetic disease ISO RGD:1312941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744909 Creld1 cysteine rich with EGF like domains 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 8744909 Creld1 cysteine rich with EGF like domains 1 gene DOID:1681 heart septal defect susceptibility ISO RGD:1319745 D RGD:9068941 20200609 RGD Atrioventricular septal defect;DNA:missense mutations PMID:12632326|REF_RGD_ID:1600967 8744909 Creld1 cysteine rich with EGF like domains 1 gene DOID:2843 long QT syndrome ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8744909 Creld1 cysteine rich with EGF like domains 1 gene DOID:630 genetic disease ISO RGD:1319745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 8744909 Creld1 cysteine rich with EGF like domains 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1319745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868|PMID:28492532 8744909 Creld1 cysteine rich with EGF like domains 1 gene DOID:9001355 Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome PMID:12632326|PMID:24697899|PMID:28492532 8744909 Creld1 cysteine rich with EGF like domains 1 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:1319745 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 8744909 Creld1 cysteine rich with EGF like domains 1 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:1319745 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 1 8744909 Creld1 cysteine rich with EGF like domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8744909 Creld1 cysteine rich with EGF like domains 1 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1319745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:25741868|PMID:28492532 8744909 Creld1 cysteine rich with EGF like domains 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319745 D RGD:7240710 20240320 OMIM 8744909 Creld1 cysteine rich with EGF like domains 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition PMID:11376440|PMID:12632326|PMID:15857420|PMID:17036335|PMID:21080147|PMID:23040494|PMID:24697899|PMID:24927998|PMID:25516202|PMID:25741868|PMID:28166811|PMID:28492532 8744929 Fibin fin bud initiation factor homolog gene DOID:1059 intellectual disability ISO RGD:1606090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8744929 Fibin fin bud initiation factor homolog gene DOID:630 genetic disease ISO RGD:1606090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744929 Fibin fin bud initiation factor homolog gene DOID:9775 diastolic heart failure ISO RGD:1606090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8744935 Cd320 CD320 molecule gene DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect ISO RGD:1352822 D RGD:7240710 20180130 OMIM 8744935 Cd320 CD320 molecule gene DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect ISO RGD:1352822 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect PMID:17576681|PMID:25741868|PMID:28492532|PMID:34978764|PMID:9536098 8744935 Cd320 CD320 molecule gene DOID:0080490 mucolipidosis type IV ISO RGD:1352822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 8744935 Cd320 CD320 molecule gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1352822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8744935 Cd320 CD320 molecule gene DOID:12849 autistic disorder ISO RGD:1352822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8744935 Cd320 CD320 molecule gene DOID:630 genetic disease ISO RGD:1352822 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8744950 Cp ceruloplasmin gene DOID:0050579 glycogen storage disease XV ISO RGD:736782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8744950 Cp ceruloplasmin gene DOID:0050711 aceruloplasminemia ISO RGD:736782 D RGD:7240710 20180130 OMIM 8744950 Cp ceruloplasmin gene DOID:0050711 aceruloplasminemia ISO RGD:736782 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia PMID:10997552|PMID:11756598|PMID:11909923|PMID:12351628|PMID:1458725|PMID:15082597|PMID:15557511|PMID:15654567|PMID:15885371|PMID:16150804|PMID:16199547|PMID:16629161|PMID:16775387|PMID:16831606|PMID:17013908|PMID:17576681|PMID:17710675|PMID:18414213|PMID:19095659|PMID:2016084|PMID:20301666|PMID:20430895|PMID:20655381|PMID:22281056|PMID:24033266|PMID:25247888|PMID:25741868|PMID:25864092|PMID:26777753|PMID:27753142|PMID:28012953|PMID:28258281|PMID:28431603|PMID:28492532|PMID:29482220|PMID:30901137|PMID:32235485|PMID:33774058|PMID:34347207|PMID:3574673|PMID:5675426|PMID:5912351|PMID:7539672|PMID:7708681|PMID:7820540|PMID:8641692|PMID:8789443|PMID:9536098 8744950 Cp ceruloplasmin gene DOID:0060041 autism spectrum disorder ISO RGD:736782 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8744950 Cp ceruloplasmin gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:736782 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 PMID:11590544|PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30990103|PMID:31064749|PMID:31898847 8744950 Cp ceruloplasmin gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:736782 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16629161|PMID:28492532|PMID:30901137|PMID:32235485|PMID:34347207 8744950 Cp ceruloplasmin gene DOID:10591 pre-eclampsia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679377 8744950 Cp ceruloplasmin gene DOID:114 heart disease ISO RGD:2387 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19188839|REF_RGD_ID:2314687 8744950 Cp ceruloplasmin gene DOID:12119 hemosiderosis susceptibility ISO RGD:736782 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:7539672|REF_RGD_ID:1599626 8744950 Cp ceruloplasmin gene DOID:12849 autistic disorder ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15363659 8744950 Cp ceruloplasmin gene DOID:1307 dementia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 8744950 Cp ceruloplasmin gene DOID:13580 cholestasis ISO RGD:736782 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:29523470|REF_RGD_ID:14401716 8744950 Cp ceruloplasmin gene DOID:14330 Parkinson's disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159062|PMID:25758665 8744950 Cp ceruloplasmin gene DOID:1826 epilepsy ISO RGD:736782 D RGD:9068941 20200609 RGD PMID:7914452|REF_RGD_ID:1358523 8744950 Cp ceruloplasmin gene DOID:1838 Menkes disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965 8744950 Cp ceruloplasmin gene DOID:1909 melanoma ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 8744950 Cp ceruloplasmin gene DOID:2316 brain ischemia ISO RGD:2387 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus PMID:18273071|REF_RGD_ID:2314688 8744950 Cp ceruloplasmin gene DOID:2351 iron metabolism disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16988052 8744950 Cp ceruloplasmin gene DOID:2352 hemochromatosis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17258727 8744950 Cp ceruloplasmin gene DOID:3021 acute kidney failure ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8744950 Cp ceruloplasmin gene DOID:326 ischemia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15668637|PMID:18091701 8744950 Cp ceruloplasmin gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:736782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:11590544|PMID:16199547|PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30990103|PMID:31064749|PMID:31898847 8744950 Cp ceruloplasmin gene DOID:418 systemic scleroderma ISO RGD:736782 D RGD:9068941 20230923 RGD protein:increased expression:serum PMID:32630589|REF_RGD_ID:401827129 8744950 Cp ceruloplasmin gene DOID:4724 brain edema ISO RGD:2387 D RGD:9068941 20200609 RGD PMID:16671455|REF_RGD_ID:1599627 8744950 Cp ceruloplasmin gene DOID:5082 liver cirrhosis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513|PMID:26396155 8744950 Cp ceruloplasmin gene DOID:5113 nutritional deficiency disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12514262 8744950 Cp ceruloplasmin gene DOID:5419 schizophrenia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16842975 8744950 Cp ceruloplasmin gene DOID:630 genetic disease ISO RGD:736782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485 8744950 Cp ceruloplasmin gene DOID:684 hepatocellular carcinoma ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19229483 8744950 Cp ceruloplasmin gene DOID:7148 rheumatoid arthritis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26001728 8744950 Cp ceruloplasmin gene DOID:7998 hyperthyroidism ISO RGD:2387 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18210749|REF_RGD_ID:2314689 8744950 Cp ceruloplasmin gene DOID:8466 retinal degeneration ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 8744950 Cp ceruloplasmin gene DOID:8893 psoriasis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12559600 8744950 Cp ceruloplasmin gene DOID:893 Wilson disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22243965|PMID:23519153|PMID:7849148 8744950 Cp ceruloplasmin gene DOID:893 Wilson disease ISO RGD:736782 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18556333|REF_RGD_ID:14401715 8744950 Cp ceruloplasmin gene DOID:893 Wilson disease treatment ISO RGD:2387 D RGD:9068941 20200609 RGD PMID:15511628|REF_RGD_ID:1554300 8744950 Cp ceruloplasmin gene DOID:9000722 Animal Hepatitis ISO RGD:2387 D RGD:9068941 20200609 RGD protein:increased expression:lymph, plasma PMID:19526092|REF_RGD_ID:2314684 8744950 Cp ceruloplasmin gene DOID:9001542 Albuminuria ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21752484 8744950 Cp ceruloplasmin gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 8744950 Cp ceruloplasmin gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:736782 D RGD:9068941 20230923 RGD associated with systemic scleroderma;protein:increased expression:serum PMID:32630589|REF_RGD_ID:401827129 8744950 Cp ceruloplasmin gene DOID:9002404 Systemic Hemosiderosis due to Aceruloplasminemia ISO RGD:736782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemosiderosis, systemic, due to aceruloplasminemia PMID:1458725|PMID:16199547|PMID:16629161|PMID:28492532|PMID:3574673|PMID:5675426|PMID:5912351|PMID:7539672|PMID:7708681|PMID:8641692 8744950 Cp ceruloplasmin gene DOID:9002457 Experimental Arthritis ISO RGD:2387 D RGD:9068941 20200609 RGD PMID:19205849|REF_RGD_ID:2314686 8744950 Cp ceruloplasmin gene DOID:9002457 Experimental Arthritis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330884 8744950 Cp ceruloplasmin gene DOID:9002928 Colonic Neoplasms ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 8744950 Cp ceruloplasmin gene DOID:9002955 Nerve Degeneration ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18804145 8744950 Cp ceruloplasmin gene DOID:9004547 Thyroid Neoplasms ISO RGD:2387 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid gland PMID:19298605|REF_RGD_ID:2314685 8744950 Cp ceruloplasmin gene DOID:9004866 Ataxia ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 8744950 Cp ceruloplasmin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2387 D RGD:9068941 20200609 RGD Protein:increased expression:plasma PMID:16947119|REF_RGD_ID:1599198 8744950 Cp ceruloplasmin gene DOID:9005725 Iron Overload ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20801540 8744950 Cp ceruloplasmin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8744950 Cp ceruloplasmin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8744950 Cp ceruloplasmin gene DOID:9008510 Chronic Hepatitis ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 8744950 Cp ceruloplasmin gene DOID:9008675 Dyskinesias ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 8744950 Cp ceruloplasmin gene DOID:9008746 Pasteurellaceae Infections ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755360 8744950 Cp ceruloplasmin gene DOID:9351 diabetes mellitus ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12572680 8744950 Cp ceruloplasmin gene DOID:9352 type 2 diabetes mellitus ISO RGD:736782 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19834873|REF_RGD_ID:2314681 8744950 Cp ceruloplasmin gene DOID:936 brain disease ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19005224 8744950 Cp ceruloplasmin gene DOID:9744 type 1 diabetes mellitus ISO RGD:736782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20012460 8744950 Cp ceruloplasmin gene DOID:9744 type 1 diabetes mellitus ISO RGD:736782 D RGD:9068941 20200609 RGD PMID:17603912|REF_RGD_ID:2314682 8744987 Slc36a3 solute carrier family 36 member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8744987 Slc36a3 solute carrier family 36 member 3 gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1319236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:28492532 8744987 Slc36a3 solute carrier family 36 member 3 gene DOID:630 genetic disease ISO RGD:1319236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8744987 Slc36a3 solute carrier family 36 member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8745001 Slc6a12 solute carrier family 6 member 12 gene DOID:630 genetic disease ISO RGD:731509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745001 Slc6a12 solute carrier family 6 member 12 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8745001 Slc6a12 solute carrier family 6 member 12 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:731509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8745040 Cxcl13 C-X-C motif chemokine ligand 13 gene DOID:1790 malignant mesothelioma ISO RGD:1342514 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 8745040 Cxcl13 C-X-C motif chemokine ligand 13 gene DOID:289 endometriosis ISO RGD:1342514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 8745040 Cxcl13 C-X-C motif chemokine ligand 13 gene DOID:630 genetic disease ISO RGD:1342514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745040 Cxcl13 C-X-C motif chemokine ligand 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8745040 Cxcl13 C-X-C motif chemokine ligand 13 gene DOID:9002801 Recurrence ISO RGD:1342514 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22607768 8745055 Fhl5 four and a half LIM domains 5 gene DOID:630 genetic disease ISO RGD:1316022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745055 Fhl5 four and a half LIM domains 5 gene DOID:6364 migraine ISO RGD:1316022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793025 8745069 Mrpl51 mitochondrial ribosomal protein L51 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1315444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8745069 Mrpl51 mitochondrial ribosomal protein L51 gene DOID:0080600 COVID-19 ISO RGD:1315444 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8745069 Mrpl51 mitochondrial ribosomal protein L51 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1315444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8745069 Mrpl51 mitochondrial ribosomal protein L51 gene DOID:0111621 Temtamy syndrome ISO RGD:1315444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8745069 Mrpl51 mitochondrial ribosomal protein L51 gene DOID:630 genetic disease ISO RGD:1315444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745069 Mrpl51 mitochondrial ribosomal protein L51 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1315444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8745076 Rab3d RAB3D, member RAS oncogene family gene DOID:0050990 episodic ataxia type 2 ISO RGD:736647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8745076 Rab3d RAB3D, member RAS oncogene family gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:736647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8745076 Rab3d RAB3D, member RAS oncogene family gene DOID:0111254 glutaric acidemia I ISO RGD:736647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8745076 Rab3d RAB3D, member RAS oncogene family gene DOID:3413 alpha-mannosidosis ISO RGD:736647 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8745076 Rab3d RAB3D, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745085 Kcna7 potassium voltage-gated channel subfamily A member 7 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1320074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8745085 Kcna7 potassium voltage-gated channel subfamily A member 7 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1320074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 8745085 Kcna7 potassium voltage-gated channel subfamily A member 7 gene DOID:630 genetic disease ISO RGD:1320074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745090 Nudt22 nudix hydrolase 22 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8745090 Nudt22 nudix hydrolase 22 gene DOID:1059 intellectual disability ISO RGD:1601846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8745090 Nudt22 nudix hydrolase 22 gene DOID:3070 high grade glioma ISO RGD:1601846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8745090 Nudt22 nudix hydrolase 22 gene DOID:630 genetic disease ISO RGD:1601846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745101 Noc4l nucleolar complex associated 4 homolog gene DOID:630 genetic disease ISO RGD:1604300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745101 Noc4l nucleolar complex associated 4 homolog gene DOID:9256 colorectal cancer ISO RGD:1604300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8745129 Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:1350802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 8745129 Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:62292 D RGD:9068941 20220825 MouseDO OMIM:247200 8745129 Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:0060480 left ventricular noncompaction ISO RGD:62292 D RGD:9068941 20220825 MouseDO OMIM:604169 8745129 Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:10487 Hirschsprung's disease ISO RGD:1350802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8745129 Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350802 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 8745142 Cep78 centrosomal protein 78 gene DOID:0050572 cone-rod dystrophy ISO RGD:1346976 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532|PMID:32531858 8745142 Cep78 centrosomal protein 78 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1346976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 8745142 Cep78 centrosomal protein 78 gene DOID:0080600 COVID-19 ISO RGD:1346976 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8745142 Cep78 centrosomal protein 78 gene DOID:10003 sensorineural hearing loss ISO RGD:1346976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532 8745142 Cep78 centrosomal protein 78 gene DOID:630 genetic disease ISO RGD:1346976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8745142 Cep78 centrosomal protein 78 gene DOID:8501 fundus dystrophy ISO RGD:1346976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532 8745142 Cep78 centrosomal protein 78 gene DOID:9000376 Cone-Rod Dystrophy and Hearing Loss 1 ISO RGD:1346976 D RGD:7240710 20220105 OMIM 8745142 Cep78 centrosomal protein 78 gene DOID:9000376 Cone-Rod Dystrophy and Hearing Loss 1 ISO RGD:1346976 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532|PMID:31999394|PMID:32531858|PMID:34259627|PMID:9536098 8745142 Cep78 centrosomal protein 78 gene DOID:9000732 Cone-Rod Dystrophy and Hearing Loss ISO RGD:1346976 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss PMID:25741868|PMID:27588451|PMID:27588452|PMID:27627988|PMID:28492532 8745165 Rcor2 REST corepressor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8745165 Rcor2 REST corepressor 2 gene DOID:1059 intellectual disability ISO RGD:1353932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8745165 Rcor2 REST corepressor 2 gene DOID:3070 high grade glioma ISO RGD:1353932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8745165 Rcor2 REST corepressor 2 gene DOID:630 genetic disease ISO RGD:1353932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745195 Nemp2 nuclear envelope integral membrane protein 2 gene DOID:0111944 immunodeficiency 31B ISO RGD:2293905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 8745195 Nemp2 nuclear envelope integral membrane protein 2 gene DOID:630 genetic disease ISO RGD:2293905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745195 Nemp2 nuclear envelope integral membrane protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8745207 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8745207 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1603924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 8745207 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:0112311 male infertility due to acephalic spermatozoa ISO RGD:1307488 D RGD:9068941 20211112 RGD DNA:insertion:intron 10 (rat) PMID:19710508|REF_RGD_ID:150521555 8745207 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:11612 polycystic ovary syndrome ISO RGD:1603924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8745207 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:12177 common variable immunodeficiency ISO RGD:1603924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8745207 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603924 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8745207 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:2729 dyskeratosis congenita ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8745207 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8745207 Cntrob centrobin, centriole duplication and spindle assembly protein gene DOID:630 genetic disease ISO RGD:1603924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745245 Vamp5 vesicle associated membrane protein 5 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1350486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8745245 Vamp5 vesicle associated membrane protein 5 gene DOID:3393 coronary artery disease ISO RGD:1350486 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8745245 Vamp5 vesicle associated membrane protein 5 gene DOID:630 genetic disease ISO RGD:1350486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745259 Arhgap11a Rho GTPase activating protein 11A gene DOID:630 genetic disease ISO RGD:1602334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745259 Arhgap11a Rho GTPase activating protein 11A gene DOID:684 hepatocellular carcinoma ISO RGD:1602334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8745259 Arhgap11a Rho GTPase activating protein 11A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8745259 Arhgap11a Rho GTPase activating protein 11A gene DOID:9256 colorectal cancer ISO RGD:1602334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:0050579 glycogen storage disease XV ISO RGD:1354000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:0050830 peripheral artery disease ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:14662702|REF_RGD_ID:1580188 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1354000 D RGD:7240710 20180130 OMIM 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1354000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 PMID:11196645|PMID:12578987|PMID:20966167|PMID:25741868|PMID:28492532|PMID:29117459|PMID:31064749|PMID:32100410|PMID:7706468 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:1354000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17334511 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:19692114|REF_RGD_ID:6480647 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:0060903 thrombosis ISO RGD:733568 D RGD:9068941 20200609 RGD PMID:12897207|REF_RGD_ID:1580187 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:1059 intellectual disability ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31155615 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:1588 thrombocytopenia ISO RGD:733568 D RGD:9068941 20200609 RGD associated with Thrombosis PMID:21652673|REF_RGD_ID:6480523 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:2213 hemorrhagic disease ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:2349 arteriosclerosis ISO RGD:733568 D RGD:9068941 20200609 RGD PMID:19295309|REF_RGD_ID:6480535 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:2841 asthma ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:22010907|REF_RGD_ID:6480532 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:2841 asthma ISO RGD:733568 D RGD:9068941 20200609 RGD PMID:19822647|REF_RGD_ID:6480533 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:5844 myocardial infarction ISO RGD:1354000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19334620 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:630 genetic disease ISO RGD:1354000 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:6713 cerebrovascular disease ISO RGD:1354000 D RGD:9068941 20200609 RGD associated with Peripheral Arterial Disease;DNA:polymorphism:exon:34C>T (human) PMID:15933261|REF_RGD_ID:1580189 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:7693 abdominal aortic aneurysm ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:19028049|REF_RGD_ID:6480528 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nizon-Isidor syndrome PMID:25741868|PMID:31155615 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9002211 Hyperalgesia ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:20136836|REF_RGD_ID:6480526 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9002211 Hyperalgesia ISO RGD:733568 D RGD:9068941 20200609 RGD PMID:20398327|REF_RGD_ID:6480525 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9002457 Experimental Arthritis ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:22028806|REF_RGD_ID:6480518 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9004610 Acute Lung Injury ISO RGD:621681 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:21841533|REF_RGD_ID:6480522 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9005968 Neuralgia ISO RGD:621681 D RGD:9068941 20200609 RGD PMID:20665560|REF_RGD_ID:6480524 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:20431845|REF_RGD_ID:6480645 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9008217 Hemorrhage ISO RGD:1354000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11196645 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9008582 Developmental Disease ISO RGD:1354000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15304052 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:15304052|REF_RGD_ID:6480537 8745275 P2ry12 purinergic receptor P2Y12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354000 D RGD:9068941 20200609 RGD PMID:15483100|REF_RGD_ID:6480536 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1317926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0081218 autosomal recessive intellectual developmental disorder 74 ISO RGD:1317926 D RGD:7240710 20240306 OMIM 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0081218 autosomal recessive intellectual developmental disorder 74 ISO RGD:1317926 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 74 PMID:25741868|PMID:25753423|PMID:28492532|PMID:33161245 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1317926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0112104 Sotos syndrome 3 ISO RGD:1317926 D RGD:7240710 20190315 OMIM 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:0112104 Sotos syndrome 3 ISO RGD:1317926 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: APC2-related condition PMID:25741868|PMID:28492532 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:1826 epilepsy ISO RGD:1317926 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1317926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:630 genetic disease ISO RGD:1317926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:9007534 Complex Cortical Dysplasia with Other Brain Malformations 10 ISO RGD:1317926 D RGD:7240710 20191211 OMIM 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:9007534 Complex Cortical Dysplasia with Other Brain Malformations 10 ISO RGD:1317926 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 10 PMID:25741868|PMID:28492532|PMID:31585108 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:18716850|PMID:21278247 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1317926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8745287 Apc2 APC regulator of WNT signaling pathway 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8745311 Ino80 INO80 complex ATPase subunit gene DOID:1826 epilepsy ISO RGD:1607029 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 8745311 Ino80 INO80 complex ATPase subunit gene DOID:2717 Bloom syndrome ISO RGD:1607029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8745311 Ino80 INO80 complex ATPase subunit gene DOID:630 genetic disease ISO RGD:1607029 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8745311 Ino80 INO80 complex ATPase subunit gene DOID:9256 colorectal cancer ISO RGD:1607029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8745354 Mgam2 maltase-glucoamylase 2 (putative) gene DOID:10487 Hirschsprung's disease ISO RGD:9849972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8745406 Plekhg1 pleckstrin homology and RhoGEF domain containing G1 gene DOID:10283 prostate cancer ISO RGD:1321123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8745406 Plekhg1 pleckstrin homology and RhoGEF domain containing G1 gene DOID:630 genetic disease ISO RGD:1321123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745406 Plekhg1 pleckstrin homology and RhoGEF domain containing G1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1321123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8745432 Slc4a9 solute carrier family 4 member 9 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:730837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8745432 Slc4a9 solute carrier family 4 member 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:730837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8745432 Slc4a9 solute carrier family 4 member 9 gene DOID:630 genetic disease ISO RGD:730837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745432 Slc4a9 solute carrier family 4 member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8745432 Slc4a9 solute carrier family 4 member 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8745460 Znf131 zinc finger protein 131 gene DOID:630 genetic disease ISO RGD:1353025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745460 Znf131 zinc finger protein 131 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8745488 Rfx6 regulatory factor X6 gene DOID:0060163 body dysmorphic disorder ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8745488 Rfx6 regulatory factor X6 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1316716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8745488 Rfx6 regulatory factor X6 gene DOID:1059 intellectual disability ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8745488 Rfx6 regulatory factor X6 gene DOID:10907 microcephaly ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8745488 Rfx6 regulatory factor X6 gene DOID:1826 epilepsy ISO RGD:1316716 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8745488 Rfx6 regulatory factor X6 gene DOID:1909 melanoma ISO RGD:1316716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8745488 Rfx6 regulatory factor X6 gene DOID:630 genetic disease ISO RGD:1316716 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8745488 Rfx6 regulatory factor X6 gene DOID:9000495 Tremor ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8745488 Rfx6 regulatory factor X6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24390282 8745488 Rfx6 regulatory factor X6 gene DOID:9006077 Martinez-Frias Syndrome ISO RGD:1316716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA PMID:15592663|PMID:18414213|PMID:18512226|PMID:19887127|PMID:20148032|PMID:25741868|PMID:26264437|PMID:26559129|PMID:27523286|PMID:28492532|PMID:29026101 8745488 Rfx6 regulatory factor X6 gene DOID:9007412 Mitchell-Riley Syndrome ISO RGD:1316716 D RGD:7240710 20180130 OMIM 8745488 Rfx6 regulatory factor X6 gene DOID:9007412 Mitchell-Riley Syndrome ISO RGD:1316716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitchell-Riley syndrome PMID:15592663|PMID:18414213|PMID:18512226|PMID:19887127|PMID:20148032|PMID:25741868|PMID:26264437|PMID:26559129|PMID:27523286|PMID:28492532|PMID:29026101 8745488 Rfx6 regulatory factor X6 gene DOID:9351 diabetes mellitus ISO RGD:1316716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:15592663|PMID:18414213|PMID:20148032|PMID:25741868|PMID:28492532|PMID:29026101 8745488 Rfx6 regulatory factor X6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316716 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8745512 Zscan29 zinc finger and SCAN domain containing 29 gene DOID:2717 Bloom syndrome ISO RGD:1605867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8745512 Zscan29 zinc finger and SCAN domain containing 29 gene DOID:630 genetic disease ISO RGD:1605867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745512 Zscan29 zinc finger and SCAN domain containing 29 gene DOID:9256 colorectal cancer ISO RGD:1605867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8745531 Cidea cell death inducing DFFA like effector a gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8745531 Cidea cell death inducing DFFA like effector a gene DOID:1059 intellectual disability ISO RGD:1312942 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8745531 Cidea cell death inducing DFFA like effector a gene DOID:543 dystonia ISO RGD:1312942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8745531 Cidea cell death inducing DFFA like effector a gene DOID:6000 congestive heart failure ISO RGD:1312942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8745531 Cidea cell death inducing DFFA like effector a gene DOID:630 genetic disease ISO RGD:1312942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745531 Cidea cell death inducing DFFA like effector a gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8745531 Cidea cell death inducing DFFA like effector a gene DOID:9007188 Liver Neoplasms ISO RGD:1312942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030|PMID:28108177 8745531 Cidea cell death inducing DFFA like effector a gene DOID:9970 obesity ISO RGD:1312942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 8745531 Cidea cell death inducing DFFA like effector a gene DOID:9970 obesity ISO RGD:1312942 D RGD:9068941 20200609 RGD protein:amino acid substitution:V115F PMID:16186410|REF_RGD_ID:1625390 8745539 Krt2 keratin 2 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1342754 D RGD:7240710 20180130 OMIM 8745539 Krt2 keratin 2 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1342754 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens | ClinVar Annotator: match by term: KRT2-related condition PMID:10233323|PMID:10620137|PMID:11531804|PMID:1380918|PMID:2004005|PMID:25741868|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:7521371|PMID:7524919|PMID:8077693|PMID:9204966|PMID:9804344 8745539 Krt2 keratin 2 gene DOID:0070523 peeling skin syndrome 4 ISO RGD:1342754 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Exfoliative ichthyosis PMID:10233323|PMID:2004005|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:7521371|PMID:7524919|PMID:8077693 8745539 Krt2 keratin 2 gene DOID:1697 ichthyosis susceptibility ISO RGD:1342754 D RGD:9068941 20200609 RGD DNA:mutations PMID:7524919|REF_RGD_ID:1600192 8745539 Krt2 keratin 2 gene DOID:2773 contact dermatitis ISO RGD:1342754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8745539 Krt2 keratin 2 gene DOID:630 genetic disease ISO RGD:1342754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745555 Hpse2 heparanase 2 (inactive) gene DOID:0050816 urofacial syndrome ISO RGD:1317455 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ochoa syndrome PMID:25741868 8745555 Hpse2 heparanase 2 (inactive) gene DOID:0080205 CAKUT ISO RGD:1317455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:19669792|PMID:20560210|PMID:25510506|PMID:27151922|PMID:28492532|PMID:30143558 8745555 Hpse2 heparanase 2 (inactive) gene DOID:630 genetic disease ISO RGD:1317455 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8745555 Hpse2 heparanase 2 (inactive) gene DOID:9006560 Urofacial Syndrome 1 ISO RGD:1317455 D RGD:7240710 20180221 OMIM 8745555 Hpse2 heparanase 2 (inactive) gene DOID:9006560 Urofacial Syndrome 1 ISO RGD:1317455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urofacial syndrome type 1 PMID:11446407|PMID:19669792|PMID:19839856|PMID:20560209|PMID:20560210|PMID:21332471|PMID:25510506|PMID:25741868|PMID:27151922|PMID:28492532|PMID:30143558 8745573 Onecut3 one cut homeobox 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1351058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8745573 Onecut3 one cut homeobox 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1351058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8745573 Onecut3 one cut homeobox 3 gene DOID:630 genetic disease ISO RGD:1351058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745573 Onecut3 one cut homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8745588 Rps28 ribosomal protein S28 gene DOID:0080490 mucolipidosis type IV ISO RGD:735338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 8745588 Rps28 ribosomal protein S28 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:735338 D RGD:7240710 20180130 OMIM 8745588 Rps28 ribosomal protein S28 gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:735338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:24942156|PMID:25741868 8745588 Rps28 ribosomal protein S28 gene DOID:12849 autistic disorder ISO RGD:735338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8745588 Rps28 ribosomal protein S28 gene DOID:630 genetic disease ISO RGD:735338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745588 Rps28 ribosomal protein S28 gene DOID:9004657 Weight Gain ISO RGD:735338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8745595 Cpa4 carboxypeptidase A4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8745595 Cpa4 carboxypeptidase A4 gene DOID:630 genetic disease ISO RGD:1345742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745613 Nup160 nucleoporin 160 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1322303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8745613 Nup160 nucleoporin 160 gene DOID:0080394 nephrotic syndrome type 19 ISO RGD:1322303 D RGD:7240710 20190315 OMIM 8745613 Nup160 nucleoporin 160 gene DOID:0080394 nephrotic syndrome type 19 ISO RGD:1322303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NUP160-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 19 PMID:25741868|PMID:28492532|PMID:30179222 8745613 Nup160 nucleoporin 160 gene DOID:1059 intellectual disability ISO RGD:1322303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8745613 Nup160 nucleoporin 160 gene DOID:630 genetic disease ISO RGD:1322303 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:0050722 PHGDH deficiency ISO RGD:737224 D RGD:7240710 20180130 OMIM 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:0050722 PHGDH deficiency ISO RGD:737224 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:11034457|PMID:11055895|PMID:11751922|PMID:14645240|PMID:16199547|PMID:17576681|PMID:19235232|PMID:20196394|PMID:21113737|PMID:22393170|PMID:22886422|PMID:24836451|PMID:25152457|PMID:25741868|PMID:25913727|PMID:26467025|PMID:26610677|PMID:26960553|PMID:28135894|PMID:28252636|PMID:28440900|PMID:28492532|PMID:28903583|PMID:29018476|PMID:29286531|PMID:29703746|PMID:30214071|PMID:30348640|PMID:30838783|PMID:31847883|PMID:32404165|PMID:32579715|PMID:33087887|PMID:33565074|PMID:33726816|PMID:33758422|PMID:34055682|PMID:36308023|PMID:9536098 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:0080076 Neu-Laxova syndrome 1 ISO RGD:737224 D RGD:7240710 20180130 OMIM 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:0080076 Neu-Laxova syndrome 1 ISO RGD:737224 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 1 PMID:11034457|PMID:11055895|PMID:11751922|PMID:14645240|PMID:16199547|PMID:17576681|PMID:19235232|PMID:20196394|PMID:21113737|PMID:22393170|PMID:24836451|PMID:25152457|PMID:25741868|PMID:26467025|PMID:26610677|PMID:26960553|PMID:28135894|PMID:28252636|PMID:28492532|PMID:29018476|PMID:29286531|PMID:29703746|PMID:30214071|PMID:30348640|PMID:30838783|PMID:32404165|PMID:33758422|PMID:9536098 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:0081168 HMG-CoA synthase 2 deficiency ISO RGD:737224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:1826 epilepsy ISO RGD:737224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:1909 melanoma ISO RGD:737224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804546 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:737224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:3908 lung non-small cell carcinoma ISO RGD:737224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482881 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:630 genetic disease ISO RGD:737224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22393170|PMID:25741868|PMID:28492532|PMID:29286531|PMID:31847883|PMID:33758422 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:9007188 Liver Neoplasms ISO RGD:737224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804546 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:9008939 Breast Neoplasms ISO RGD:737224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804546 8745653 Phgdh phosphoglycerate dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:737224 D RGD:9068941 20200609 RGD PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M PMID:11055895|REF_RGD_ID:1600412 8745670 Ptk7 protein tyrosine kinase 7 (inactive) gene DOID:0050444 infantile Refsum disease ISO RGD:1344975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8745670 Ptk7 protein tyrosine kinase 7 (inactive) gene DOID:630 genetic disease ISO RGD:1344975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745670 Ptk7 protein tyrosine kinase 7 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8745670 Ptk7 protein tyrosine kinase 7 (inactive) gene DOID:905 Zellweger syndrome ISO RGD:1344975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8745713 Cmtm5 CKLF like MARVEL transmembrane domain containing 5 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8745713 Cmtm5 CKLF like MARVEL transmembrane domain containing 5 gene DOID:630 genetic disease ISO RGD:1316008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745713 Cmtm5 CKLF like MARVEL transmembrane domain containing 5 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1316008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 8745713 Cmtm5 CKLF like MARVEL transmembrane domain containing 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316008 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8745727 Trir telomerase RNA component interacting RNase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1604305 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8745727 Trir telomerase RNA component interacting RNase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1604305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8745727 Trir telomerase RNA component interacting RNase gene DOID:0111254 glutaric acidemia I ISO RGD:1604305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8745727 Trir telomerase RNA component interacting RNase gene DOID:3413 alpha-mannosidosis ISO RGD:1604305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8745741 Ift27 intraflagellar transport 27 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1318628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8745741 Ift27 intraflagellar transport 27 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1318628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8745741 Ift27 intraflagellar transport 27 gene DOID:0110141 Bardet-Biedl syndrome 19 ISO RGD:1318628 D RGD:7240710 20180130 OMIM 8745741 Ift27 intraflagellar transport 27 gene DOID:0110141 Bardet-Biedl syndrome 19 ISO RGD:1318628 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 | ClinVar Annotator: match by term: IFT27-related condition PMID:24488770|PMID:25741868|PMID:27894351|PMID:28492532|PMID:29704304|PMID:30761183|PMID:34888642 8745741 Ift27 intraflagellar transport 27 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1318628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8745741 Ift27 intraflagellar transport 27 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1318628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8745741 Ift27 intraflagellar transport 27 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318628 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532|PMID:29704304|PMID:30761183 8745741 Ift27 intraflagellar transport 27 gene DOID:630 genetic disease ISO RGD:1318628 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8745766 Kcnc3 potassium voltage-gated channel subfamily C member 3 gene DOID:0050963 spinocerebellar ataxia type 13 ISO RGD:733063 D RGD:7240710 20180130 OMIM 8745766 Kcnc3 potassium voltage-gated channel subfamily C member 3 gene DOID:0050963 spinocerebellar ataxia type 13 ISO RGD:733063 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 13 PMID:10820125|PMID:16135769|PMID:16501573|PMID:18592334|PMID:19953606|PMID:20712895|PMID:21479265|PMID:21543613|PMID:22289912|PMID:22736459|PMID:22933745|PMID:23215817|PMID:23734863|PMID:23912307|PMID:24116147|PMID:25152487|PMID:25497598|PMID:25741868|PMID:25756792|PMID:25981959|PMID:26442672|PMID:26467025|PMID:28216058|PMID:28467418|PMID:28492532|PMID:30862666|PMID:32644043 8745766 Kcnc3 potassium voltage-gated channel subfamily C member 3 gene DOID:630 genetic disease ISO RGD:733063 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19953606|PMID:21479265|PMID:21543613|PMID:22289912|PMID:23734863|PMID:25741868|PMID:25756792|PMID:26442672|PMID:26467025|PMID:28216058|PMID:28467418|PMID:28492532|PMID:30862666|PMID:32644043 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:0060019 coronin-1A deficiency ISO RGD:1352781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1352781 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1551024 D RGD:9068941 20220825 MouseDO 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1352781 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1352781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1352781 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1352781 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:3393 coronary artery disease ISO RGD:1352781 D RGD:9068941 20231130 RGD mRNA:decreased expression:blood (human) PMID:30015926|REF_RGD_ID:401901084 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:5419 schizophrenia ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:630 genetic disease ISO RGD:1352781 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8745785 Ppp4c protein phosphatase 4 catalytic subunit gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1352781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8745804 Cdo1 cysteine dioxygenase type 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737394 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8745804 Cdo1 cysteine dioxygenase type 1 gene DOID:10763 hypertension ISO RGD:69262 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:6726227|REF_RGD_ID:2301363 8745804 Cdo1 cysteine dioxygenase type 1 gene DOID:12849 autistic disorder ISO RGD:737394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8745804 Cdo1 cysteine dioxygenase type 1 gene DOID:630 genetic disease ISO RGD:737394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745804 Cdo1 cysteine dioxygenase type 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8745804 Cdo1 cysteine dioxygenase type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8745804 Cdo1 cysteine dioxygenase type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737394 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8745804 Cdo1 cysteine dioxygenase type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 8745804 Cdo1 cysteine dioxygenase type 1 gene DOID:9970 obesity ISO RGD:737395 D RGD:9068941 20200609 RGD PMID:16627576|REF_RGD_ID:2301355 8745834 Sox12 SRY-box transcription factor 12 gene DOID:630 genetic disease ISO RGD:1318728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745834 Sox12 SRY-box transcription factor 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8745840 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0050570 congenital disorder of glycosylation type I ISO RGD:1321758 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type I PMID:17576681|PMID:24033266|PMID:25741868|PMID:26931382|PMID:28492532|PMID:28554332|PMID:32190976|PMID:34567092|PMID:9536098 8745840 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1321758 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:14709599|PMID:14973778|PMID:14973782|PMID:20679665|PMID:22966035|PMID:24033266|PMID:25741868|PMID:25956699|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:31994750 8745840 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1321758 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:14709599|PMID:14973778|PMID:14973782|PMID:20679665|PMID:22966035|PMID:24033266|PMID:25741868|PMID:25956699|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:31994750 8745840 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080563 congenital disorder of glycosylation Ik ISO RGD:1321758 D RGD:7240710 20180130 OMIM 8745840 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:0080563 congenital disorder of glycosylation Ik ISO RGD:1321758 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CDG Ik | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:14709599|PMID:14973778|PMID:14973782|PMID:16199547|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23757202|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25640679|PMID:25741868|PMID:25954003|PMID:25956699|PMID:26430078|PMID:26453362|PMID:26931382|PMID:27172925|PMID:27325525|PMID:27618451|PMID:27670784|PMID:28490743|PMID:28492532|PMID:28554332|PMID:30653653|PMID:31994750|PMID:32064623|PMID:32190976|PMID:32573669|PMID:33176815|PMID:33643843|PMID:33960646|PMID:34020146|PMID:34567092|PMID:35279850|PMID:9536098 8745840 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1321758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8745840 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1321758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 8745840 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1321758 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:14709599|PMID:14973778|PMID:14973782|PMID:16199547|PMID:17576681|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25741868|PMID:25956699|PMID:26430078|PMID:26453362|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:30653653|PMID:31994750|PMID:32064623|PMID:32190976|PMID:32573669|PMID:33176815|PMID:34020146|PMID:34567092|PMID:35279850|PMID:9536098 8745840 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1321758 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14709599|PMID:14973778|PMID:14973782|PMID:20679665|PMID:22966035|PMID:23806237|PMID:24033266|PMID:24157261|PMID:25741868|PMID:25954003|PMID:25956699|PMID:26430078|PMID:26931382|PMID:27172925|PMID:27325525|PMID:27618451|PMID:27670784|PMID:28490743|PMID:28492532|PMID:28554332|PMID:31994750|PMID:32064623|PMID:33176815|PMID:34567092 8745840 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1321758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532 8745840 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase gene DOID:936 brain disease ISO RGD:1321758 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:14709599|PMID:14973778|PMID:14973782|PMID:17576681|PMID:20679665|PMID:22966035|PMID:24033266|PMID:25741868|PMID:25956699|PMID:26931382|PMID:27172925|PMID:27325525|PMID:28492532|PMID:28554332|PMID:31994750|PMID:32190976|PMID:34567092|PMID:9536098 8745866 Bub3 BUB3 mitotic checkpoint protein gene DOID:630 genetic disease ISO RGD:1315390 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8745866 Bub3 BUB3 mitotic checkpoint protein gene DOID:9002644 Premature Aging ISO RGD:1315391 D RGD:9068941 20200609 RGD PMID:16476774|REF_RGD_ID:10059413 8745881 Grb10 growth factor receptor bound protein 10 gene DOID:0080600 COVID-19 ISO RGD:1352618 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8745881 Grb10 growth factor receptor bound protein 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8745881 Grb10 growth factor receptor bound protein 10 gene DOID:630 genetic disease ISO RGD:1352618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745906 Api5 apoptosis inhibitor 5 gene DOID:1059 intellectual disability ISO RGD:1320288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8745906 Api5 apoptosis inhibitor 5 gene DOID:4362 cervical cancer disease_progression ISO RGD:1320288 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:10780674|REF_RGD_ID:1643340 8745906 Api5 apoptosis inhibitor 5 gene DOID:630 genetic disease ISO RGD:1320288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745939 Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 gene DOID:0060417 3p deletion syndrome ISO RGD:1312992 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8745939 Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 gene DOID:630 genetic disease ISO RGD:1312992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745953 Tram2 translocation associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:1345669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745971 Stx2 syntaxin 2 gene DOID:12336 male infertility ISO RGD:732157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277055 8745971 Stx2 syntaxin 2 gene DOID:630 genetic disease ISO RGD:732157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8745994 Lzts2 leucine zipper tumor suppressor 2 gene DOID:18 urinary system disease ISO RGD:1552566 D RGD:9068941 20220825 MouseDO 8745994 Lzts2 leucine zipper tumor suppressor 2 gene DOID:630 genetic disease ISO RGD:1343241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746012 Srpra SRP receptor subunit alpha gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 8746012 Srpra SRP receptor subunit alpha gene DOID:0110877 holoprosencephaly 11 ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8746012 Srpra SRP receptor subunit alpha gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8746012 Srpra SRP receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8746012 Srpra SRP receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1322997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746012 Srpra SRP receptor subunit alpha gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8746012 Srpra SRP receptor subunit alpha gene DOID:9007661 Dwarfism ISO RGD:1322997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8746034 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:630 genetic disease ISO RGD:68592 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8746034 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:9005672 Maple Syrup Urine Disease, Type 2 ISO RGD:68592 D RGD:7240710 20240214 OMIM 8746034 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:9005672 Maple Syrup Urine Disease, Type 2 ISO RGD:68592 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intermediate maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease, thiamine-responsive, type II PMID:14508502|PMID:14517957|PMID:14742428|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:1943690|PMID:19823873|PMID:1990841|PMID:2010537|PMID:20639189|PMID:24772966|PMID:25741868|PMID:26257134|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:31319225|PMID:31980395|PMID:32812330|PMID:33083013|PMID:35799415|PMID:36361642|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 8746034 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8746034 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:9269 maple syrup urine disease ISO RGD:68592 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:14517957|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23313820|PMID:23757202|PMID:24033266|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26589311|PMID:27243974|PMID:27518768|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31119508|PMID:32193832|PMID:32812330|PMID:33123633|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 8746034 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:9269 maple syrup urine disease ISO RGD:68592 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:14508502|PMID:14517957|PMID:14741190|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20307994|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23757202|PMID:24033266|PMID:24268812|PMID:24304607|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26589311|PMID:27243974|PMID:27518768|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32193832|PMID:32778825|PMID:32812330|PMID:33083013|PMID:33123633|PMID:33131499|PMID:33868929|PMID:34069211|PMID:35799415|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 8746034 Dbt dihydrolipoamide branched chain transacylase E2 gene DOID:9269 maple syrup urine disease ISO RGD:68592 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease PMID:11112664|PMID:14508502|PMID:14517957|PMID:14741190|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20307994|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23757202|PMID:24033266|PMID:24268812|PMID:24304607|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26589311|PMID:27243974|PMID:27518768|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32193832|PMID:32778825|PMID:32812330|PMID:33083013|PMID:33123633|PMID:33131499|PMID:33868929|PMID:34069211|PMID:35799415|PMID:36361642|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354490 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:0050476 Barth syndrome ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1354490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1354490 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:12849 autistic disorder ISO RGD:1354490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:13628 favism ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1354490 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:607 paraplegia ISO RGD:1354490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:630 genetic disease ISO RGD:1354490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746048 Slc10a3 solute carrier family 10 member 3 gene DOID:9002720 Splenomegaly ISO RGD:1354490 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8746054 Clcn6 chloride voltage-gated channel 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8746054 Clcn6 chloride voltage-gated channel 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1313372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8746054 Clcn6 chloride voltage-gated channel 6 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1313372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 8746054 Clcn6 chloride voltage-gated channel 6 gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:1313373 D RGD:9068941 20220825 MouseDO OMIM:204200 8746054 Clcn6 chloride voltage-gated channel 6 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1313372 D RGD:9068941 20200609 RGD DNA:SNP: :rs3737964(human) PMID:26740945|REF_RGD_ID:14696742 8746054 Clcn6 chloride voltage-gated channel 6 gene DOID:630 genetic disease ISO RGD:1313372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8746054 Clcn6 chloride voltage-gated channel 6 gene DOID:9002301 Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities ISO RGD:1313372 D RGD:7240710 20221116 OMIM 8746054 Clcn6 chloride voltage-gated channel 6 gene DOID:9002301 Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities ISO RGD:1313372 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities PMID:25741868|PMID:28492532|PMID:33217309 8746054 Clcn6 chloride voltage-gated channel 6 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1313372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8746054 Clcn6 chloride voltage-gated channel 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1313372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33217309 8746093 Dcaf12 DDB1 and CUL4 associated factor 12 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8746093 Dcaf12 DDB1 and CUL4 associated factor 12 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1346609 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8746093 Dcaf12 DDB1 and CUL4 associated factor 12 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8746093 Dcaf12 DDB1 and CUL4 associated factor 12 gene DOID:630 genetic disease ISO RGD:1346609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746093 Dcaf12 DDB1 and CUL4 associated factor 12 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346609 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8746093 Dcaf12 DDB1 and CUL4 associated factor 12 gene DOID:9870 galactosemia ISO RGD:1346609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8746106 Ubap2 ubiquitin associated protein 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8746106 Ubap2 ubiquitin associated protein 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323319 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8746106 Ubap2 ubiquitin associated protein 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8746106 Ubap2 ubiquitin associated protein 2 gene DOID:630 genetic disease ISO RGD:1323319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746106 Ubap2 ubiquitin associated protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323319 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8746106 Ubap2 ubiquitin associated protein 2 gene DOID:9870 galactosemia ISO RGD:1323319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8746147 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8746147 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8746147 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1321074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8746147 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:630 genetic disease ISO RGD:1321074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746147 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8746147 Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8746166 Helz helicase with zinc finger gene DOID:630 genetic disease ISO RGD:1316013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746204 Irx4 iroquois homeobox 4 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1319589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 8746204 Irx4 iroquois homeobox 4 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1319589 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8746204 Irx4 iroquois homeobox 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8746204 Irx4 iroquois homeobox 4 gene DOID:630 genetic disease ISO RGD:1319589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746204 Irx4 iroquois homeobox 4 gene DOID:6419 tetralogy of Fallot ISO RGD:1319589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868 8746204 Irx4 iroquois homeobox 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1319589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8746204 Irx4 iroquois homeobox 4 gene DOID:9003936 Cardiomegaly ISO RGD:1319590 D RGD:9068941 20200609 RGD PMID:11238910|REF_RGD_ID:1582289 8746204 Irx4 iroquois homeobox 4 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:1319589 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 1 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:1348656 D RGD:7240710 20180130 OMIM 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:1348656 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition PMID:16199547|PMID:16358214|PMID:16358215|PMID:16849419|PMID:17576681|PMID:18523928|PMID:18996815|PMID:19820004|PMID:20074341|PMID:21344632|PMID:22159077|PMID:22387237|PMID:24033266|PMID:24176905|PMID:24246249|PMID:25741868|PMID:26399350|PMID:26789268|PMID:28492532|PMID:29505567|PMID:29809158|PMID:2983203|PMID:30798342|PMID:31440709|PMID:31672324|PMID:32963591|PMID:33223529|PMID:33226606|PMID:33532864|PMID:34805638|PMID:9536098 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1348656 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:1348656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 PMID:25741868|PMID:28492532|PMID:31672324 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1348656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348656 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:1826 epilepsy ISO RGD:1348656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:630 genetic disease ISO RGD:1348656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:9001738 Hypercalciuria ISO RGD:1348656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercalciuria 8746222 Slc34a3 solute carrier family 34 member 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1348656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8746242 Ndst2 N-deacetylase and N-sulfotransferase 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1312297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8746242 Ndst2 N-deacetylase and N-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1312297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746242 Ndst2 N-deacetylase and N-sulfotransferase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8746266 Slc35d2 solute carrier family 35 member D2 gene DOID:1059 intellectual disability ISO RGD:1319900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8746266 Slc35d2 solute carrier family 35 member D2 gene DOID:630 genetic disease ISO RGD:1319900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746294 Slx9 SLX9 ribosome biogenesis factor gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8746294 Slx9 SLX9 ribosome biogenesis factor gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8746294 Slx9 SLX9 ribosome biogenesis factor gene DOID:0110266 cataract 9 multiple types ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8746294 Slx9 SLX9 ribosome biogenesis factor gene DOID:12849 autistic disorder ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8746294 Slx9 SLX9 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1322617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746294 Slx9 SLX9 ribosome biogenesis factor gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322617 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8746294 Slx9 SLX9 ribosome biogenesis factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8746294 Slx9 SLX9 ribosome biogenesis factor gene DOID:9263 homocystinuria ISO RGD:1322617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8746294 Slx9 SLX9 ribosome biogenesis factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322617 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0050477 Liddle syndrome ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348737 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736324 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:736324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:736324 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:10403853|PMID:10510337|PMID:10523338|PMID:10586178|PMID:11978598|PMID:12376807|PMID:1506904|PMID:15734793|PMID:16199547|PMID:16249274|PMID:17977920|PMID:19401469|PMID:19462466|PMID:20194130|PMID:21889619|PMID:21917531|PMID:23149595|PMID:23416952|PMID:24033266|PMID:25741868|PMID:26668308|PMID:27582106|PMID:28492532|PMID:28710092 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0080526 bronchiectasis 1 ISO RGD:736324 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:25741868 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0080527 bronchiectasis 2 ISO RGD:736324 D RGD:7240710 20180130 OMIM 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0080527 bronchiectasis 2 ISO RGD:736324 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 | ClinVar Annotator: match by term: Idiopathic bronchiectasis PMID:10403853|PMID:10510337|PMID:10523338|PMID:11978598|PMID:1506904|PMID:15734793|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21889619|PMID:21917531|PMID:23149595|PMID:23392097|PMID:24033266|PMID:25741868|PMID:26668308|PMID:27582106|PMID:28492532 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:736324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0090018 autosomal dominant familial periodic fever ISO RGD:736324 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) PMID:25741868 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:0111621 Temtamy syndrome ISO RGD:736324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:10283 prostate cancer ISO RGD:736324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:10591 pre-eclampsia ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16555725 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:10763 hypertension ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11752024|PMID:23348737 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:1184 nephrotic syndrome ISO RGD:3639 D RGD:9068941 20200609 RGD PMID:15075188|REF_RGD_ID:1624161 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:1485 cystic fibrosis ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077107|PMID:19462466 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:2935 Chediak-Higashi syndrome ISO RGD:736324 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:2987 familial mediterranean fever ISO RGD:736324 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial Periodic Fever PMID:25741868 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:4479 pseudohypoaldosteronism ISO RGD:736324 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism PMID:25741868 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:576 proteinuria ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11752024 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:630 genetic disease ISO RGD:736324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:769 neuroblastoma disease_progression ISO RGD:736324 D RGD:9068941 20200609 RGD Low levels of methylation correlate with improved survival PMID:21314941|REF_RGD_ID:5509791 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:850 lung disease ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077107|PMID:19462466 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9001276 Failure to Thrive ISO RGD:736324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9006963 Pseudohypoaldosteronism Type IB1, Autosomal Recessive ISO RGD:736324 D RGD:7240710 20221207 OMIM 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9007096 Stroke ISO RGD:736324 D RGD:9068941 20200609 RGD PMID:15734793|REF_RGD_ID:5509790 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:736324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9009241 Liddle Syndrome 3 ISO RGD:736324 D RGD:7240710 20190315 OMIM 8746309 Scnn1a sodium channel epithelial 1 subunit alpha gene DOID:9009241 Liddle Syndrome 3 ISO RGD:736324 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Liddle syndrome 3 PMID:10523338|PMID:1506904|PMID:21889619|PMID:23149595|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28710092 8746342 Mex3d mex-3 RNA binding family member D gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1321562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8746342 Mex3d mex-3 RNA binding family member D gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1321562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8746342 Mex3d mex-3 RNA binding family member D gene DOID:5339 cyclic hematopoiesis ISO RGD:1321562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8746342 Mex3d mex-3 RNA binding family member D gene DOID:630 genetic disease ISO RGD:1321562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746342 Mex3d mex-3 RNA binding family member D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8746347 Emsy EMSY transcriptional repressor, BRCA2 interacting gene DOID:1059 intellectual disability ISO RGD:1345109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8746347 Emsy EMSY transcriptional repressor, BRCA2 interacting gene DOID:11612 polycystic ovary syndrome ISO RGD:1345109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8746347 Emsy EMSY transcriptional repressor, BRCA2 interacting gene DOID:3310 atopic dermatitis ISO RGD:1345109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 8746347 Emsy EMSY transcriptional repressor, BRCA2 interacting gene DOID:630 genetic disease ISO RGD:1345109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746347 Emsy EMSY transcriptional repressor, BRCA2 interacting gene DOID:9005539 Familial Prostate Cancer ISO RGD:1345109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8746347 Emsy EMSY transcriptional repressor, BRCA2 interacting gene DOID:9008939 Breast Neoplasms ISO RGD:1345109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636701 8746407 Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 gene DOID:0060902 Norman-Roberts syndrome ISO RGD:733241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 8746407 Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8746407 Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 gene DOID:630 genetic disease ISO RGD:733241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746429 Olfml2b olfactomedin like 2B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8746429 Olfml2b olfactomedin like 2B gene DOID:1540 parathyroid carcinoma ISO RGD:1319500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8746429 Olfml2b olfactomedin like 2B gene DOID:630 genetic disease ISO RGD:1319500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746429 Olfml2b olfactomedin like 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1319500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8746429 Olfml2b olfactomedin like 2B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8746429 Olfml2b olfactomedin like 2B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8746441 Vps51 VPS51 subunit of GARP complex gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8746441 Vps51 VPS51 subunit of GARP complex gene DOID:0112332 pontocerebellar hypoplasia type 13 ISO RGD:1351540 D RGD:7240710 20191030 OMIM 8746441 Vps51 VPS51 subunit of GARP complex gene DOID:0112332 pontocerebellar hypoplasia type 13 ISO RGD:1351540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 13 PMID:25741868|PMID:30624672|PMID:31207318 8746441 Vps51 VPS51 subunit of GARP complex gene DOID:1059 intellectual disability ISO RGD:1351540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8746441 Vps51 VPS51 subunit of GARP complex gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8746441 Vps51 VPS51 subunit of GARP complex gene DOID:2746 glycogen storage disease V ISO RGD:1351540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8746441 Vps51 VPS51 subunit of GARP complex gene DOID:3070 high grade glioma ISO RGD:1351540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8746441 Vps51 VPS51 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1351540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746455 Rps7 ribosomal protein S7 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1348295 D RGD:7240710 20180130 OMIM 8746455 Rps7 ribosomal protein S7 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1348295 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition PMID:17576681|PMID:19061985|PMID:23718193|PMID:25424902|PMID:25741868|PMID:25946618|PMID:27882484|PMID:28102861|PMID:28492532|PMID:36057918|PMID:9536098 8746455 Rps7 ribosomal protein S7 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1348295 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:25741868|PMID:26136524|PMID:28492532 8746455 Rps7 ribosomal protein S7 gene DOID:9008939 Breast Neoplasms ISO RGD:1348295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8746502 Dido1 death inducer-obliterator 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8746502 Dido1 death inducer-obliterator 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1322490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8746502 Dido1 death inducer-obliterator 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1322490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8746502 Dido1 death inducer-obliterator 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1322490 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8746502 Dido1 death inducer-obliterator 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8746502 Dido1 death inducer-obliterator 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8746502 Dido1 death inducer-obliterator 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1322490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 8746502 Dido1 death inducer-obliterator 1 gene DOID:4972 myelodysplastic/myeloproliferative neoplasm ISO RGD:30309588 D RGD:9068941 20220825 MouseDO 8746502 Dido1 death inducer-obliterator 1 gene DOID:630 genetic disease ISO RGD:1322490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746541 Nlrc3 NLR family CARD domain containing 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8746541 Nlrc3 NLR family CARD domain containing 3 gene DOID:1826 epilepsy ISO RGD:1604212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8746541 Nlrc3 NLR family CARD domain containing 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8746541 Nlrc3 NLR family CARD domain containing 3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8746541 Nlrc3 NLR family CARD domain containing 3 gene DOID:630 genetic disease ISO RGD:1604212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746541 Nlrc3 NLR family CARD domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1604212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30081150 8746584 Fabp6 fatty acid binding protein 6 gene DOID:630 genetic disease ISO RGD:737077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746595 Hdac10 histone deacetylase 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8746595 Hdac10 histone deacetylase 10 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1314168 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8746595 Hdac10 histone deacetylase 10 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8746595 Hdac10 histone deacetylase 10 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8746595 Hdac10 histone deacetylase 10 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1314168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8746595 Hdac10 histone deacetylase 10 gene DOID:1059 intellectual disability ISO RGD:1314168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8746595 Hdac10 histone deacetylase 10 gene DOID:630 genetic disease ISO RGD:1314168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:25741868|PMID:28492532 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:0050951 hereditary ataxia ISO RGD:732483 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:24453141|PMID:25741868|PMID:29109906 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:12859 choreatic disease ISO RGD:732483 D RGD:7240710 20180130 OMIM 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:12859 choreatic disease ISO RGD:732483 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878|PMID:12891678|PMID:15289765|PMID:15955952|PMID:16220345|PMID:17576681|PMID:19176457|PMID:23379327|PMID:23430038|PMID:24129101|PMID:24555207|PMID:24714694|PMID:24930029|PMID:25741868|PMID:26723978|PMID:28492532|PMID:28503612|PMID:29882472|PMID:30352709|PMID:9536098 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:12859 choreatic disease susceptibility ISO RGD:732483 D RGD:9068941 20200609 RGD DNA:transition: ; 745C>T PMID:16220345|REF_RGD_ID:1600157 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:732483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:543 dystonia ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:18788921|PMID:24555207|PMID:25741868|PMID:27066577|PMID:28492532 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:630 genetic disease ISO RGD:732483 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11971878|PMID:15955952|PMID:19336474|PMID:21813802|PMID:23379327|PMID:24714694|PMID:24930029|PMID:25741868|PMID:26723978|PMID:28492532|PMID:29882472 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:850 lung disease ISO RGD:732483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9003905 Benign Familial Chorea ISO RGD:732483 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.W238L (713G>T), p.R243S (727C>A) (human) PMID:11971878|REF_RGD_ID:12914773 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9003905 Benign Familial Chorea ISO RGD:732483 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon 2:p.S145X (c.609C>A) (human) PMID:18788921|REF_RGD_ID:11073166 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9003905 Benign Familial Chorea ISO RGD:732483 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:c.464-9C>A (human) PMID:22825795|REF_RGD_ID:12914772 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732483 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17504987|REF_RGD_ID:2290483 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:732483 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17504987|REF_RGD_ID:2290483 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26723978 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732483 D RGD:7240710 20180130 OMIM 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732483 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress PMID:11854318|PMID:11854319|PMID:11971878|PMID:12891678|PMID:15289765|PMID:15955952|PMID:17220277|PMID:17576681|PMID:17765926|PMID:18661567|PMID:18788921|PMID:18957494|PMID:19176457|PMID:19336474|PMID:20020530|PMID:21813802|PMID:22825795|PMID:22832740|PMID:23379327|PMID:23430038|PMID:24171694|PMID:24453141|PMID:24555207|PMID:24714694|PMID:24930029|PMID:25326635|PMID:25741868|PMID:26640963|PMID:27066577|PMID:28492532|PMID:28588801|PMID:28732825|PMID:29109906|PMID:29538355|PMID:29882472|PMID:30352709|PMID:30746413|PMID:9536098 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732483 D RGD:7240710 20180130 OMIM 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:732483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:19176457|PMID:25741868|PMID:28492532 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:3866 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17245593|REF_RGD_ID:1600158 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:732483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10830305|PMID:16863852 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9277 primary cerebellar degeneration ISO RGD:732483 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:24453141|PMID:25741868|PMID:29109906 8746632 Nkx2-1 NK2 homeobox 1 gene DOID:9538 multiple myeloma ISO RGD:732483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8746645 Ovgp1 oviductal glycoprotein 1 gene DOID:10316 pneumoconiosis ISO RGD:1349339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 8746645 Ovgp1 oviductal glycoprotein 1 gene DOID:630 genetic disease ISO RGD:1349339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746660 Odf2 outer dense fiber of sperm tails 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8746660 Odf2 outer dense fiber of sperm tails 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8746660 Odf2 outer dense fiber of sperm tails 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8746660 Odf2 outer dense fiber of sperm tails 2 gene DOID:630 genetic disease ISO RGD:731998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8746723 Cul1 cullin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1317768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8746723 Cul1 cullin 1 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1317768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:16571880|PMID:22872700|PMID:28492532 8746723 Cul1 cullin 1 gene DOID:14731 Weaver syndrome ISO RGD:1317768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:28492532 8746723 Cul1 cullin 1 gene DOID:630 genetic disease ISO RGD:1317768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746747 Znf202 zinc finger protein 202 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8746747 Znf202 zinc finger protein 202 gene DOID:5419 schizophrenia ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8746747 Znf202 zinc finger protein 202 gene DOID:630 genetic disease ISO RGD:1353784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746747 Znf202 zinc finger protein 202 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8746747 Znf202 zinc finger protein 202 gene DOID:9007661 Dwarfism ISO RGD:1353784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8746767 Leng9 leukocyte receptor cluster member 9 gene DOID:2661 myoepithelioma ISO RGD:1317999 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8746767 Leng9 leukocyte receptor cluster member 9 gene DOID:630 genetic disease ISO RGD:1317999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746778 Pi4k2a phosphatidylinositol 4-kinase type 2 alpha gene DOID:630 genetic disease ISO RGD:1605063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746803 Adk adenosine kinase gene DOID:0060180 colitis ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:11123368|REF_RGD_ID:6482664 8746803 Adk adenosine kinase gene DOID:0111038 hypermethioninemia due to adenosine kinase deficiency ISO RGD:737582 D RGD:7240710 20180130 OMIM 8746803 Adk adenosine kinase gene DOID:0111038 hypermethioninemia due to adenosine kinase deficiency ISO RGD:737582 D RGD:8554872 20231219 ClinVar ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 PMID:21963049|PMID:25741868|PMID:26642971|PMID:26975589|PMID:28492532 8746803 Adk adenosine kinase gene DOID:1059 intellectual disability ISO RGD:737582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8746803 Adk adenosine kinase gene DOID:14115 toxic shock syndrome ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:8207212|REF_RGD_ID:6482670 8746803 Adk adenosine kinase gene DOID:2316 brain ischemia ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:17457365|PMID:21427729|REF_RGD_ID:6482652|REF_RGD_ID:6482655 8746803 Adk adenosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:21635241|REF_RGD_ID:6482302 8746803 Adk adenosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:737582 D RGD:9068941 20200609 RGD PMID:21635241|REF_RGD_ID:6482302 8746803 Adk adenosine kinase gene DOID:3454 brain infarction ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:16685255|REF_RGD_ID:6482657 8746803 Adk adenosine kinase gene DOID:3454 brain infarction ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:9731623|REF_RGD_ID:6482667 8746803 Adk adenosine kinase gene DOID:630 genetic disease ISO RGD:737582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746803 Adk adenosine kinase gene DOID:9002211 Hyperalgesia ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:11423084|REF_RGD_ID:6482662 8746803 Adk adenosine kinase gene DOID:9002211 Hyperalgesia ISO RGD:2046 D RGD:9068941 20200609 RGD associated with diabetic neuropathies; PMID:9932716|REF_RGD_ID:6482666 8746803 Adk adenosine kinase gene DOID:9002457 Experimental Arthritis ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:11160636|REF_RGD_ID:6482663 8746803 Adk adenosine kinase gene DOID:9002669 Hypoxia ISO RGD:737582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 8746803 Adk adenosine kinase gene DOID:9003574 Congenital Visceral Steatosis ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:11997462|REF_RGD_ID:1300259 8746803 Adk adenosine kinase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2046 D RGD:9068941 20220616 RGD protein:decreased expression:brain: PMID:25720338|REF_RGD_ID:152995398 8746803 Adk adenosine kinase gene DOID:9005520 Genitopatellar Syndrome ISO RGD:737582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 8746803 Adk adenosine kinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2046 D RGD:9068941 20200609 RGD protein:decreased expression:spleen, lymphocyte PMID:12729803|REF_RGD_ID:2313360 8746803 Adk adenosine kinase gene DOID:9006024 Hypotension ISO RGD:2046 D RGD:9068941 20200609 RGD PMID:9435554|REF_RGD_ID:6482668 8746803 Adk adenosine kinase gene DOID:9007402 Gliosis ISO RGD:10091 D RGD:9068941 20200609 RGD associated with status epilepticus;protein:increased expression:brain PMID:21964979|REF_RGD_ID:6482650 8746803 Adk adenosine kinase gene DOID:9008023 Memory Disorders ISO RGD:10091 D RGD:9068941 20200609 RGD PMID:22521820|REF_RGD_ID:6482646 8746803 Adk adenosine kinase gene DOID:9452 steatotic liver disease ISO RGD:10091 D RGD:9068941 20220825 MouseDO OMIM:228100 8746831 Ins insulin gene DOID:0014667 disease of metabolism ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131468 8746831 Ins insulin gene DOID:0014667 disease of metabolism ISO RGD:731056 D RGD:9068941 20210820 RGD associated with human immunodeficiency virus infectious disease;protein:increased expression:blood serum (human) PMID:22151886|REF_RGD_ID:150340610 8746831 Ins insulin gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:731056 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:20007936|PMID:22572540|PMID:24275212|PMID:24411943|PMID:25542748|PMID:25741868|PMID:25781672|PMID:26101329|PMID:26467025|PMID:27634015|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:33953728|PMID:35083481 8746831 Ins insulin gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:731056 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:27635400|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:33953728|PMID:35083481 8746831 Ins insulin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8746831 Ins insulin gene DOID:0050835 generalized dystonia ISO RGD:731056 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized dystonia PMID:22572540|PMID:24275212|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30455893|PMID:35083481 8746831 Ins insulin gene DOID:0060319 cardiac arrest ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17449947 8746831 Ins insulin gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:731056 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:20938745|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:27635400|PMID:28492532|PMID:30455893|PMID:30456822|PMID:32916194|PMID:33206859|PMID:33953728|PMID:35083481 8746831 Ins insulin gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:731056 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20133622|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20724178|PMID:20938745|PMID:20948967|PMID:21566073|PMID:21592955|PMID:21723250|PMID:22235272|PMID:22957706|PMID:23416061|PMID:23444373|PMID:24622368|PMID:25542748|PMID:25721872|PMID:25741868|PMID:25765664|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30191644|PMID:30414308|PMID:32252216|PMID:32433667|PMID:32792356|PMID:32894308|PMID:32916194|PMID:33852861|PMID:34584998|PMID:34593315 8746831 Ins insulin gene DOID:0080000 muscular disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:496411 8746831 Ins insulin gene DOID:0080074 neural tube defect ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19446573 8746831 Ins insulin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:731056 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32613381 8746831 Ins insulin gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18948358 8746831 Ins insulin gene DOID:0080773 delta beta-thalassemia ISO RGD:731056 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8746831 Ins insulin gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:731056 D RGD:7240710 20180130 OMIM 8746831 Ins insulin gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:731056 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:18414213|PMID:20007936|PMID:20133622|PMID:20226046|PMID:20301620|PMID:20938745|PMID:20948967|PMID:21592955|PMID:22957706|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30456822|PMID:32252216|PMID:32792356|PMID:32916194|PMID:33852861|PMID:33953728|PMID:34584998|PMID:34593315 8746831 Ins insulin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731056 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:20226046|PMID:20301620|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28993341|PMID:30456822|PMID:33830302 8746831 Ins insulin gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:731056 D RGD:7240710 20180130 OMIM 8746831 Ins insulin gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:731056 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 PMID:11921414|PMID:12610512|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20007936|PMID:20226046|PMID:20938745|PMID:20948967|PMID:24097065|PMID:24411943|PMID:24770419|PMID:25423173|PMID:25542748|PMID:25741868|PMID:25781672|PMID:26101329|PMID:26467025|PMID:27634015|PMID:27635400|PMID:27659712|PMID:28478482|PMID:28492532|PMID:29758564|PMID:30456822|PMID:32916194|PMID:33206859|PMID:33953728|PMID:34174481 8746831 Ins insulin gene DOID:0111969 immunodeficiency 39 ISO RGD:731056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8746831 Ins insulin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8746831 Ins insulin gene DOID:10283 prostate cancer disease_progression ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:27599544|REF_RGD_ID:13504777 8746831 Ins insulin gene DOID:10603 glucose intolerance ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21779873 8746831 Ins insulin gene DOID:10652 Alzheimer's disease ISO RGD:2916 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:17448147|REF_RGD_ID:2298713 8746831 Ins insulin gene DOID:10652 Alzheimer's disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215|PMID:9443474 8746831 Ins insulin gene DOID:1074 kidney failure ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8606734|PMID:9861226 8746831 Ins insulin gene DOID:10763 hypertension ISO RGD:10812 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:29211853 8746831 Ins insulin gene DOID:10763 hypertension ISO RGD:2916 D RGD:9068941 20200609 RGD PMID:9095092|REF_RGD_ID:6902896 8746831 Ins insulin gene DOID:10763 hypertension ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18360027|PMID:9719048 8746831 Ins insulin gene DOID:11612 polycystic ovary syndrome ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11889176|PMID:16123091|PMID:2777199 8746831 Ins insulin gene DOID:11714 gestational diabetes ISO RGD:731056 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19269197|REF_RGD_ID:2311131 8746831 Ins insulin gene DOID:11717 neonatal diabetes ISO RGD:731056 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20938745|PMID:20948967|PMID:21723250|PMID:22957706|PMID:23416061|PMID:23444373|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:27635400|PMID:28492532|PMID:32433667|PMID:32792356|PMID:32916194|PMID:34593315 8746831 Ins insulin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8660453 8746831 Ins insulin gene DOID:12217 Lewy body dementia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8746831 Ins insulin gene DOID:14330 Parkinson's disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8746831 Ins insulin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8746831 Ins insulin gene DOID:1561 cognitive disorder ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21911655 8746831 Ins insulin gene DOID:1793 pancreatic cancer ISO RGD:10812 D RGD:9068941 20200609 RGD PMID:19628082|REF_RGD_ID:2317245 8746831 Ins insulin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:731056 D RGD:9068941 20200609 RGD DNA:Polymorphism:promoter:-23 HphI (human) PMID:19152242|REF_RGD_ID:2317253 8746831 Ins insulin gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731056 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:19375425|REF_RGD_ID:2317250 8746831 Ins insulin gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731056 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Depend PMID:19572116|REF_RGD_ID:2317247 8746831 Ins insulin gene DOID:1837 diabetic ketoacidosis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11430560 8746831 Ins insulin gene DOID:1920 hyperuricemia ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:19033255|REF_RGD_ID:6902897 8746831 Ins insulin gene DOID:2018 hyperinsulinism ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:9667398|REF_RGD_ID:1625121 8746831 Ins insulin gene DOID:2018 hyperinsulinism ISO RGD:731056 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:2991050|PMID:3511099|PMID:36764371|PMID:4019786|PMID:6382002 8746831 Ins insulin gene DOID:2237 hepatitis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12243603 8746831 Ins insulin gene DOID:2975 cystic kidney disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9879822 8746831 Ins insulin gene DOID:3021 acute kidney failure ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12243603 8746831 Ins insulin gene DOID:3312 bipolar disorder ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:5506046 8746831 Ins insulin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731056 D RGD:9068941 20200609 RGD Glucagon/insulin PMID:19571666|REF_RGD_ID:2317248 8746831 Ins insulin gene DOID:365 bladder disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2055425 8746831 Ins insulin gene DOID:3892 insulinoma ISO RGD:731056 D RGD:9068941 20200609 RGD protein:altered expression:blood PMID:8175958|REF_RGD_ID:2317266 8746831 Ins insulin gene DOID:3892 insulinoma ISO RGD:731056 D RGD:9068941 20200609 RGD protein:altered localization:pancreas PMID:2565624|REF_RGD_ID:2317268 8746831 Ins insulin gene DOID:409 liver disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29684222 8746831 Ins insulin gene DOID:4195 hyperglycemia ISO RGD:10812 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:18056790|PMID:29211853 8746831 Ins insulin gene DOID:4195 hyperglycemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:8660453|PMID:9861226 8746831 Ins insulin gene DOID:4500 hypokalemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:496411 8746831 Ins insulin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:731056 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 8746831 Ins insulin gene DOID:4989 pancreatitis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17163263 8746831 Ins insulin gene DOID:557 kidney disease ISO RGD:10812 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:29211853 8746831 Ins insulin gene DOID:594 panic disorder ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12073167 8746831 Ins insulin gene DOID:6000 congestive heart failure ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15628829 8746831 Ins insulin gene DOID:630 genetic disease ISO RGD:731056 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11921414|PMID:18162506|PMID:18171712|PMID:25542748|PMID:25741868|PMID:26101329|PMID:28492532 8746831 Ins insulin gene DOID:657 adenoma ISO RGD:10812 D RGD:9068941 20200609 RGD protein:increased secretion:serum PMID:12917331|REF_RGD_ID:2317273 8746831 Ins insulin gene DOID:684 hepatocellular carcinoma ISO RGD:731056 D RGD:9068941 20210820 RGD associated with Chronic Hepatitis C;mRNA:decreased expression:liver (human) PMID:33132693|REF_RGD_ID:150340613 8746831 Ins insulin gene DOID:8398 osteoarthritis ISO RGD:731056 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:2290165|REF_RGD_ID:10045857 8746831 Ins insulin gene DOID:8947 diabetic retinopathy ISO RGD:10812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30463601 8746831 Ins insulin gene DOID:8947 diabetic retinopathy ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:22046295|REF_RGD_ID:6902909 8746831 Ins insulin gene DOID:9000184 Ventricular Fibrillation ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:5348156 8746831 Ins insulin gene DOID:9000197 Edema ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15628829 8746831 Ins insulin gene DOID:9000884 Rhabdomyolysis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12243603 8746831 Ins insulin gene DOID:9001542 Albuminuria ISO RGD:10812 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29420703 8746831 Ins insulin gene DOID:9001542 Albuminuria ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9861226 8746831 Ins insulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26806094 8746831 Ins insulin gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11872684 8746831 Ins insulin gene DOID:9001961 Hyperkalemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20466255|PMID:8606734 8746831 Ins insulin gene DOID:9001981 Weight Loss ISO RGD:10812 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:29211853 8746831 Ins insulin gene DOID:9001981 Weight Loss ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22940631 8746831 Ins insulin gene DOID:9002165 Diabetic Nephropathies ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2143390|PMID:7713310|PMID:7987072 8746831 Ins insulin gene DOID:9002165 Diabetic Nephropathies resistance ISO RGD:2916 D RGD:9068941 20200609 RGD PMID:22068113|REF_RGD_ID:6902908 8746831 Ins insulin gene DOID:9002188 Hypoinsulinemia ISO RGD:731056 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12610512|PMID:25741868|PMID:26467025|PMID:33206859 8746831 Ins insulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12610512 8746831 Ins insulin gene DOID:9002554 Tachycardia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324617 8746831 Ins insulin gene DOID:9003242 Paresthesia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9861226 8746831 Ins insulin gene DOID:9003282 Hyperproinsulinemia ISO RGD:731056 D RGD:7240710 20180130 OMIM 8746831 Ins insulin gene DOID:9003282 Hyperproinsulinemia ISO RGD:731056 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hyperproinsulinemia PMID:11921414|PMID:1601997|PMID:18171712|PMID:20034470|PMID:20938745|PMID:2196279|PMID:24843467|PMID:25542748|PMID:25741868|PMID:26101329|PMID:2991050|PMID:3057496|PMID:3306677|PMID:33953728|PMID:3470784|PMID:3511099|PMID:3537011|PMID:381941|PMID:4019786|PMID:6261753|PMID:6312455|PMID:6339950|PMID:6368587|PMID:6371526|PMID:6382002|PMID:7242673|PMID:7350438|PMID:8269791|PMID:8421693|PMID:8636380|PMID:9141561|PMID:9667398 8746831 Ins insulin gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731056 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:20809526|PMID:22264700|PMID:22572540|PMID:24275212|PMID:24753243|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:27635400|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:33953728|PMID:35083481 8746831 Ins insulin gene DOID:9004319 Ventricular Outflow Obstruction ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8660453 8746831 Ins insulin gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:731056 D RGD:7240710 20200520 OMIM 8746831 Ins insulin gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:731056 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4 PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:18414213|PMID:18451997|PMID:18981553|PMID:19801494|PMID:19952343|PMID:20034470|PMID:20133622|PMID:20226046|PMID:20301620|PMID:20308425|PMID:20659334|PMID:20724178|PMID:20938745|PMID:20948967|PMID:21592955|PMID:21723250|PMID:22235272|PMID:22957706|PMID:23416061|PMID:23444373|PMID:24622368|PMID:25423173|PMID:25542748|PMID:25721872|PMID:25741868|PMID:25765664|PMID:26101329|PMID:26467025|PMID:27635400|PMID:28478482|PMID:28492532|PMID:29454299|PMID:30191644|PMID:30414308|PMID:32252216|PMID:32433667|PMID:32792356|PMID:32894308|PMID:32916194|PMID:33852861|PMID:33953728|PMID:34584998|PMID:34593315|PMID:3511099|PMID:3537011|PMID:6339950 8746831 Ins insulin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24587105 8746831 Ins insulin gene DOID:9004590 Acute Liver Failure ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12639207 8746831 Ins insulin gene DOID:9005246 Paralysis ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7433326 8746831 Ins insulin gene DOID:9006024 Hypotension ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1324617|PMID:48835|PMID:7418494 8746831 Ins insulin gene DOID:9006599 Hypertriglyceridemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754275 8746831 Ins insulin gene DOID:9006646 Metabolic Syndrome ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11274935|PMID:16259526 8746831 Ins insulin gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27884723|PMID:30266311 8746831 Ins insulin gene DOID:9006854 MPTP Poisoning ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26364587 8746831 Ins insulin gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20828608 8746831 Ins insulin gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:731056 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:11921414|PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:18414213|PMID:20007936|PMID:20133622|PMID:20226046|PMID:20301620|PMID:20938745|PMID:20948967|PMID:21592955|PMID:22957706|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30456822|PMID:32252216|PMID:32792356|PMID:32916194|PMID:33852861|PMID:33953728|PMID:34584998|PMID:34593315 8746831 Ins insulin gene DOID:9007692 Insulin Resistance ISO RGD:731056 D RGD:9068941 20200609 RGD PMID:3322910|REF_RGD_ID:2311112 8746831 Ins insulin gene DOID:9007692 Insulin Resistance ISO RGD:731056 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:11522680|PMID:24648896|PMID:25796170|PMID:33651899 8746831 Ins insulin gene DOID:9008023 Memory Disorders ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9264093 8746831 Ins insulin gene DOID:9351 diabetes mellitus ISO RGD:731056 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:11921414|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20226046|PMID:22957706|PMID:25542748|PMID:25741868|PMID:26101329 8746831 Ins insulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:731056 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17047922|PMID:17855560|PMID:18162506|PMID:18171712|PMID:20226046|PMID:20301620|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28993341|PMID:30456822|PMID:33830302 8746831 Ins insulin gene DOID:9452 steatotic liver disease ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9048448 8746831 Ins insulin gene DOID:9452 steatotic liver disease ISO RGD:731056 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18713300|REF_RGD_ID:2311137 8746831 Ins insulin gene DOID:9744 type 1 diabetes mellitus ISO RGD:731056 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:11921414|PMID:17855560|PMID:18162506|PMID:18171712|PMID:18192540|PMID:20007936|PMID:20133622|PMID:20226046|PMID:20938745|PMID:20948967|PMID:21592955|PMID:22235272|PMID:24622368|PMID:25542748|PMID:25721872|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:30414308|PMID:33953728 8746831 Ins insulin gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:731056 D RGD:9068941 20210820 RGD associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human) PMID:20535137|REF_RGD_ID:150340608 8746831 Ins insulin gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:731056 D RGD:9068941 20210820 RGD human gene in a mouse model PMID:16113600|PMID:16382177|PMID:17284779|REF_RGD_ID:150340606|REF_RGD_ID:150340615|REF_RGD_ID:150340616 8746831 Ins insulin gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:731056 D RGD:9068941 20210820 RGD human protein in a mouse model PMID:21765853|PMID:26783749|REF_RGD_ID:150340605|REF_RGD_ID:150340612 8746831 Ins insulin gene DOID:9970 obesity ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11528401|PMID:2777199|PMID:29035695|PMID:8923850 8746831 Ins insulin gene DOID:9993 hypoglycemia ISO RGD:731056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324617|PMID:1646414|PMID:1890151|PMID:20620209|PMID:22940631|PMID:2554359|PMID:48835 8746836 Maco1 macoilin 1 gene DOID:630 genetic disease ISO RGD:1605378 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746836 Maco1 macoilin 1 gene DOID:9000528 Coronary Disease ISO RGD:1605378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 8746836 Maco1 macoilin 1 gene DOID:9003370 Dyslipidemias ISO RGD:1605378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 8746855 Mak16 MAK16 homolog gene DOID:0081204 autosomal recessive intellectual developmental disorder 39 ISO RGD:1350635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome PMID:23956177 8746855 Mak16 MAK16 homolog gene DOID:10907 microcephaly ISO RGD:1350635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8746855 Mak16 MAK16 homolog gene DOID:630 genetic disease ISO RGD:1350635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746869 Zscan23 zinc finger and SCAN domain containing 23 gene DOID:11372 megacolon ISO RGD:1353335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8746869 Zscan23 zinc finger and SCAN domain containing 23 gene DOID:630 genetic disease ISO RGD:1353335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746877 Ano8 anoctamin 8 gene DOID:630 genetic disease ISO RGD:1349559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746900 Gstcd glutathione S-transferase C-terminal domain containing gene DOID:630 genetic disease ISO RGD:1602688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746900 Gstcd glutathione S-transferase C-terminal domain containing gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 8746919 Tagln2 transgelin 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8746919 Tagln2 transgelin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1321972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8746919 Tagln2 transgelin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8746919 Tagln2 transgelin 2 gene DOID:5082 liver cirrhosis ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8746919 Tagln2 transgelin 2 gene DOID:630 genetic disease ISO RGD:1321972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746919 Tagln2 transgelin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8746919 Tagln2 transgelin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8746919 Tagln2 transgelin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8746919 Tagln2 transgelin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8746936 Ncan neurocan gene DOID:11054 urinary bladder cancer ISO RGD:1344259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8746936 Ncan neurocan gene DOID:3312 bipolar disorder ISO RGD:1344259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8746936 Ncan neurocan gene DOID:4428 dyslexia ISO RGD:1344259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental dyslexia PMID:28839234 8746936 Ncan neurocan gene DOID:630 genetic disease ISO RGD:1344259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:0070256 congenital disorder of glycosylation type IId ISO RGD:1349315 D RGD:7240710 20180130 OMIM 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:0070256 congenital disorder of glycosylation type IId ISO RGD:1349315 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2D PMID:25741868|PMID:28492532|PMID:30653653|PMID:32157688 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1349315 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1349315 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyalinosis, Inherited Systemic PMID:25741868|PMID:28492532 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:28 endocrine system disease ISO RGD:10640 D RGD:9068941 20220825 MouseDO 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:10640 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349315 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:5212 congenital disorder of glycosylation susceptibility ISO RGD:1349315 D RGD:9068941 20200609 RGD DNA:insertion: ;1031insC PMID:11901181|REF_RGD_ID:1599432 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1349315 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1349315 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8746955 B4galt1 beta-1,4-galactosyltransferase 1 gene DOID:9870 galactosemia ISO RGD:1349315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8746965 Rpl7a ribosomal protein L7a gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8746965 Rpl7a ribosomal protein L7a gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8746965 Rpl7a ribosomal protein L7a gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8746965 Rpl7a ribosomal protein L7a gene DOID:0081097 Rafiq syndrome ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8746965 Rpl7a ribosomal protein L7a gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8746965 Rpl7a ribosomal protein L7a gene DOID:3652 Leigh disease ISO RGD:1316865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8746965 Rpl7a ribosomal protein L7a gene DOID:630 genetic disease ISO RGD:1316865 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746977 Rps2 ribosomal protein S2 gene DOID:0060224 atrial fibrillation ISO RGD:732314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8746977 Rps2 ribosomal protein S2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8746977 Rps2 ribosomal protein S2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8746977 Rps2 ribosomal protein S2 gene DOID:1826 epilepsy ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8746977 Rps2 ribosomal protein S2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8746977 Rps2 ribosomal protein S2 gene DOID:630 genetic disease ISO RGD:732314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746977 Rps2 ribosomal protein S2 gene DOID:9002669 Hypoxia ISO RGD:732314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 8746987 Cnksr1 connector enhancer of kinase suppressor of Ras 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1323565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8746987 Cnksr1 connector enhancer of kinase suppressor of Ras 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1323565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8746987 Cnksr1 connector enhancer of kinase suppressor of Ras 1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1323565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:25741868 8746987 Cnksr1 connector enhancer of kinase suppressor of Ras 1 gene DOID:1059 intellectual disability ISO RGD:1323565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8746987 Cnksr1 connector enhancer of kinase suppressor of Ras 1 gene DOID:630 genetic disease ISO RGD:1323565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8746987 Cnksr1 connector enhancer of kinase suppressor of Ras 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323565 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8747015 Cdhr2 cadherin related family member 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1606556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8747015 Cdhr2 cadherin related family member 2 gene DOID:14748 Sotos syndrome ISO RGD:1606556 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8747015 Cdhr2 cadherin related family member 2 gene DOID:630 genetic disease ISO RGD:1606556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747015 Cdhr2 cadherin related family member 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8747015 Cdhr2 cadherin related family member 2 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1606556 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8747064 Robo4 roundabout guidance receptor 4 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:30455415 8747064 Robo4 roundabout guidance receptor 4 gene DOID:0080977 aortic valve disease 3 ISO RGD:1345935 D RGD:7240710 20190731 OMIM 8747064 Robo4 roundabout guidance receptor 4 gene DOID:0080977 aortic valve disease 3 ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic valve disease 3 | ClinVar Annotator: match by term: ROBO4-related condition PMID:25741868|PMID:30455415 8747064 Robo4 roundabout guidance receptor 4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8747064 Robo4 roundabout guidance receptor 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8747064 Robo4 roundabout guidance receptor 4 gene DOID:10591 pre-eclampsia ISO RGD:1345935 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:placenta PMID:22262697|REF_RGD_ID:243048428 8747064 Robo4 roundabout guidance receptor 4 gene DOID:12849 autistic disorder ISO RGD:1345935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 8747064 Robo4 roundabout guidance receptor 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1345935 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:32748548 8747064 Robo4 roundabout guidance receptor 4 gene DOID:224 transient cerebral ischemia ISO RGD:6494870 D RGD:9068941 20230330 RGD protein:increased expression:hippocampus PMID:26764532|REF_RGD_ID:11573340 8747064 Robo4 roundabout guidance receptor 4 gene DOID:3627 aortic aneurysm ISO RGD:1345935 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ascending aortic dilation PMID:25741868|PMID:30455415 8747064 Robo4 roundabout guidance receptor 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia 8747064 Robo4 roundabout guidance receptor 4 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1345935 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 8747064 Robo4 roundabout guidance receptor 4 gene DOID:5419 schizophrenia ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8747064 Robo4 roundabout guidance receptor 4 gene DOID:630 genetic disease ISO RGD:1345935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30455415 8747064 Robo4 roundabout guidance receptor 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8747064 Robo4 roundabout guidance receptor 4 gene DOID:9007661 Dwarfism ISO RGD:1345935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8747086 Zfx zinc finger protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8747086 Zfx zinc finger protein X-linked gene DOID:12849 autistic disorder ISO RGD:1344344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8747086 Zfx zinc finger protein X-linked gene DOID:630 genetic disease ISO RGD:1344344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747086 Zfx zinc finger protein X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8747102 Ccdc85c coiled-coil domain containing 85C gene DOID:10908 hydrocephalus ISO RGD:1589818 D RGD:9068941 20211029 RGD PMID:31341137|REF_RGD_ID:150520163 8747102 Ccdc85c coiled-coil domain containing 85C gene DOID:10908 hydrocephalus ISO RGD:1613682 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8747102 Ccdc85c coiled-coil domain containing 85C gene DOID:630 genetic disease ISO RGD:1344482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747102 Ccdc85c coiled-coil domain containing 85C gene DOID:9009238 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ISO RGD:1344482 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies PMID:25741868 8747132 Ammecr1l AMMECR1 like gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1605931 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8747132 Ammecr1l AMMECR1 like gene DOID:630 genetic disease ISO RGD:1605931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747165 Tmx4 thioredoxin related transmembrane protein 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1603023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 8747165 Tmx4 thioredoxin related transmembrane protein 4 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1603023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 8747165 Tmx4 thioredoxin related transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:1603023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747165 Tmx4 thioredoxin related transmembrane protein 4 gene DOID:9003698 ALAGILLE SYNDROME 1 ISO RGD:1603023 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 8747177 Nrbf2 nuclear receptor binding factor 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1346110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 8747177 Nrbf2 nuclear receptor binding factor 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:1346110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532 8747177 Nrbf2 nuclear receptor binding factor 2 gene DOID:630 genetic disease ISO RGD:1346110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747200 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:0110222 Brugada syndrome 5 ISO RGD:1354511 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8747200 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1354511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8747200 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:10283 prostate cancer ISO RGD:1354511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8747200 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:10652 Alzheimer's disease ISO RGD:1354511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 8747200 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:10652 Alzheimer's disease onset ISO RGD:1354511 D RGD:9068941 20200609 RGD DNA:snps:promoter, intron: (rs4806173, rs12984928) (human) PMID:15507493|REF_RGD_ID:1358618 8747200 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:543 dystonia ISO RGD:1354511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8747200 Gapdhs glyceraldehyde-3-phosphate dehydrogenase, spermatogenic gene DOID:630 genetic disease ISO RGD:1354511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747218 Fkbp4 FKBP prolyl isomerase 4 gene DOID:4674 androgen insensitivity syndrome ISO RGD:1551632 D RGD:9068941 20220825 MouseDO OMIM:300068 8747218 Fkbp4 FKBP prolyl isomerase 4 gene DOID:630 genetic disease ISO RGD:733402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747218 Fkbp4 FKBP prolyl isomerase 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:733402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8747232 Dcaf16 DDB1 and CUL4 associated factor 16 gene DOID:630 genetic disease ISO RGD:1603212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747238 Myl9 myosin light chain 9 gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:1322585 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:21293372|PMID:25741868|PMID:29453416|PMID:33031641 8747238 Myl9 myosin light chain 9 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1322585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:21293372|PMID:25741868|PMID:29453416|PMID:33031641 8747238 Myl9 myosin light chain 9 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322585 D RGD:9068941 20200609 RGD PMID:16076902|REF_RGD_ID:1582589 8747238 Myl9 myosin light chain 9 gene DOID:0080682 autosomal dominant familial visceral neuropathy ISO RGD:1322585 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:21293372|PMID:25741868|PMID:29453416|PMID:33031641 8747238 Myl9 myosin light chain 9 gene DOID:178 vascular disease ISO RGD:1322585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18511912 8747238 Myl9 myosin light chain 9 gene DOID:2234 focal epilepsy ISO RGD:1322585 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8747238 Myl9 myosin light chain 9 gene DOID:4724 brain edema ISO RGD:1322585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17419808 8747238 Myl9 myosin light chain 9 gene DOID:630 genetic disease ISO RGD:1322585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747238 Myl9 myosin light chain 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8747238 Myl9 myosin light chain 9 gene DOID:9006417 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 ISO RGD:1322585 D RGD:7240710 20210707 OMIM 8747238 Myl9 myosin light chain 9 gene DOID:9006417 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 ISO RGD:1322585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 PMID:21293372|PMID:25741868|PMID:33031641 8747246 Efna4 ephrin A4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8747246 Efna4 ephrin A4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8747246 Efna4 ephrin A4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8747246 Efna4 ephrin A4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8747246 Efna4 ephrin A4 gene DOID:1540 parathyroid carcinoma ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8747246 Efna4 ephrin A4 gene DOID:5812 MHC class II deficiency ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8747246 Efna4 ephrin A4 gene DOID:630 genetic disease ISO RGD:1317216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747246 Efna4 ephrin A4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:0050860 colorectal adenoma ISO RGD:1316000 D RGD:9068941 20210924 RGD protein:decreased expression:colorectum (human) PMID:28423721|REF_RGD_ID:150429743 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1316000 D RGD:9068941 20210924 RGD mRNA:increased expression:tongue squamous epithelium (human) PMID:28319306|REF_RGD_ID:150429750 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:0050933 ovarian serous carcinoma ISO RGD:1316000 D RGD:9068941 20200609 RGD ovarian serous carcinoma; DNA:loss of heterozygosity:tumor:24/28 (86%) of high-grade tumors, also decreased expression in 96/128 (75%) of tumors PMID:16627982|REF_RGD_ID:2293332 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:11054 urinary bladder cancer ISO RGD:1316000 D RGD:9068941 20200609 RGD PMID:15665277|REF_RGD_ID:2306057 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:1324 lung cancer ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD DNA:SNP:promoter: -1304T>G (rs3826392) (human) PMID:20554746|REF_RGD_ID:150429822 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:1793 pancreatic cancer ISO RGD:1316000 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:224 transient cerebral ischemia ISO RGD:1307040 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:heart, nucleus PMID:9195981|REF_RGD_ID:7495830 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:2615 papilloma ISO RGD:1316001 D RGD:9068941 20200609 RGD PMID:20610622|REF_RGD_ID:7495823 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:2876 laryngeal squamous cell carcinoma severity ISO RGD:1316000 D RGD:9068941 20211001 RGD associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) PMID:19513509|REF_RGD_ID:150429781 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1316000 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors PMID:15592684|REF_RGD_ID:2289400 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1316000 D RGD:9068941 20200609 RGD PMID:20699612|REF_RGD_ID:5490968 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1316000 D RGD:9068941 20211001 RGD protein:decreased expression: stomach (human) PMID:17116802|REF_RGD_ID:150429780 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1316000 D RGD:9068941 20211001 RGD protein:increased expression:stomach (human) PMID:10854223|REF_RGD_ID:150429764 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD associated with Postoperative Complications;DNA:SNP:intron: (rs12452497)(human) PMID:26165383|REF_RGD_ID:11521299 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1316001 D RGD:9068941 20211001 RGD PMID:12231543|REF_RGD_ID:150429821 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1316001 D RGD:9068941 20211001 RGD PMID:21896780|REF_RGD_ID:150429783 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:630 genetic disease ISO RGD:1316000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1316000 D RGD:9068941 20211001 RGD protein:decreased expression:liver (human) PMID:32850377|REF_RGD_ID:150429765 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:769 neuroblastoma ISO RGD:1316000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:1316000 D RGD:9068941 20200609 RGD protein:increased expression PMID:17577251|REF_RGD_ID:2293334 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1316001 D RGD:9068941 20200609 RGD PMID:21454599|REF_RGD_ID:7495828 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9000774 Brain Death ISO RGD:1307040 D RGD:9068941 20200609 RGD PMID:23157661|REF_RGD_ID:7495829 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1316000 D RGD:9068941 20210924 RGD associated with oral squamous cell carcinoma;mRNA, protein:increased expression:lymph node (human) PMID:22165133|REF_RGD_ID:150429749 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:1307040 D RGD:9068941 20200609 RGD PMID:19668425|REF_RGD_ID:7495824 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316000 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316001 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1316000 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significant inverse correlation between Gleason pattern and expression (p<0.01) PMID:11306453|REF_RGD_ID:2293333 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1316001 D RGD:9068941 20200609 RGD expression inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system PMID:16322247|REF_RGD_ID:2293337 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1316001 D RGD:9068941 20200609 RGD expression inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system PMID:16489030|REF_RGD_ID:2293338 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9004464 Skin Neoplasms treatment ISO RGD:1316001 D RGD:9068941 20200609 RGD PMID:21378167|REF_RGD_ID:7495826 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9007980 Sleep Deprivation ISO RGD:1307040 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:mandible condylar process PMID:23859770|REF_RGD_ID:7495827 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1316000 D RGD:9068941 20200609 RGD DNA:SNP, haplotype PMID:19404734|REF_RGD_ID:7495825 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD DNA:SNPs:promoter: -1304G>G, -1304T>G (rs3826392) (human) PMID:19610067|REF_RGD_ID:150429744 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9256 colorectal cancer severity ISO RGD:1316000 D RGD:9068941 20210924 RGD protein:decreased expression:colorectum (human) PMID:28423721|REF_RGD_ID:150429743 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9261 nasopharynx carcinoma ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD DNA:SNP:promoter: -1304T>G, -1304G>G (human) PMID:27373035|REF_RGD_ID:150429759 8747255 Map2k4 mitogen-activated protein kinase kinase 4 gene DOID:9261 nasopharynx carcinoma ameliorates ISO RGD:1316000 D RGD:9068941 20211001 RGD associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human) PMID:21702039|REF_RGD_ID:150429763 8747290 Csf2 colony stimulating factor 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22315502 8747290 Csf2 colony stimulating factor 2 gene DOID:0050458 juvenile myelomonocytic leukemia treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:9389708|REF_RGD_ID:10449526 8747290 Csf2 colony stimulating factor 2 gene DOID:0050852 limb ischemia ISO RGD:1551314 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:16648859|REF_RGD_ID:10449511 8747290 Csf2 colony stimulating factor 2 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11486401|PMID:11732872|PMID:7680712 8747290 Csf2 colony stimulating factor 2 gene DOID:0080074 neural tube defect ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17075842 8747290 Csf2 colony stimulating factor 2 gene DOID:0080178 mucositis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8120554 8747290 Csf2 colony stimulating factor 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 8747290 Csf2 colony stimulating factor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354508 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8747290 Csf2 colony stimulating factor 2 gene DOID:0080600 COVID-19 severity ISO RGD:1354508 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8747290 Csf2 colony stimulating factor 2 gene DOID:0080855 Parkinsonism ISO RGD:621065 D RGD:9068941 20200609 RGD PMID:21291297|REF_RGD_ID:5131508 8747290 Csf2 colony stimulating factor 2 gene DOID:10325 silicosis ISO RGD:621065 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21505002|REF_RGD_ID:10450467 8747290 Csf2 colony stimulating factor 2 gene DOID:10914 amnestic disorder ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8877002 8747290 Csf2 colony stimulating factor 2 gene DOID:1115 sarcoma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11605069 8747290 Csf2 colony stimulating factor 2 gene DOID:11339 pneumocystosis ISO RGD:621065 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19487471|REF_RGD_ID:5131475 8747290 Csf2 colony stimulating factor 2 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:11179134|PMID:21478218|PMID:9763547|REF_RGD_ID:10449509|REF_RGD_ID:10449522|REF_RGD_ID:5131467 8747290 Csf2 colony stimulating factor 2 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1551314 D RGD:9068941 20220825 MouseDO OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 8747290 Csf2 colony stimulating factor 2 gene DOID:1227 neutropenia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11264156|PMID:7875148 8747290 Csf2 colony stimulating factor 2 gene DOID:1227 neutropenia treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:10832225|REF_RGD_ID:10449510 8747290 Csf2 colony stimulating factor 2 gene DOID:12449 aplastic anemia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12221670|PMID:9885444 8747290 Csf2 colony stimulating factor 2 gene DOID:12987 agranulocytosis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872|PMID:8120554 8747290 Csf2 colony stimulating factor 2 gene DOID:13375 temporal arteritis ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:9844760|REF_RGD_ID:11059502 8747290 Csf2 colony stimulating factor 2 gene DOID:13949 interstitial cystitis ISO RGD:621065 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18848347|REF_RGD_ID:2317284 8747290 Csf2 colony stimulating factor 2 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1354508 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 8747290 Csf2 colony stimulating factor 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1551314 D RGD:9068941 20200609 RGD DNA:mutations:multiple: Csf2,Ifng,Il3 PMID:21537082|REF_RGD_ID:5686773 8747290 Csf2 colony stimulating factor 2 gene DOID:1588 thrombocytopenia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8297739 8747290 Csf2 colony stimulating factor 2 gene DOID:1909 melanoma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11061616 8747290 Csf2 colony stimulating factor 2 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:10830715|REF_RGD_ID:10450245 8747290 Csf2 colony stimulating factor 2 gene DOID:2355 anemia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872|PMID:8297739 8747290 Csf2 colony stimulating factor 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:621065 D RGD:9068941 20200609 RGD associated with Respiratory Aspiration;protein:increased expression:serum PMID:18557728|REF_RGD_ID:2317286 8747290 Csf2 colony stimulating factor 2 gene DOID:2841 asthma ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:9717963|REF_RGD_ID:10449521 8747290 Csf2 colony stimulating factor 2 gene DOID:2841 asthma ISO RGD:1551314 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20405019|REF_RGD_ID:5131473 8747290 Csf2 colony stimulating factor 2 gene DOID:2841 asthma severity ISO RGD:1354508 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19213775|REF_RGD_ID:5131476 8747290 Csf2 colony stimulating factor 2 gene DOID:305 carcinoma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11605069 8747290 Csf2 colony stimulating factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1354508 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19213775|REF_RGD_ID:5131476 8747290 Csf2 colony stimulating factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17894541 8747290 Csf2 colony stimulating factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:621065 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:9881949|REF_RGD_ID:10449530 8747290 Csf2 colony stimulating factor 2 gene DOID:530 eyelid disease ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17075842 8747290 Csf2 colony stimulating factor 2 gene DOID:5419 schizophrenia ISO RGD:1354508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8747290 Csf2 colony stimulating factor 2 gene DOID:552 pneumonia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872 8747290 Csf2 colony stimulating factor 2 gene DOID:552 pneumonia ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:19633061|REF_RGD_ID:4142837 8747290 Csf2 colony stimulating factor 2 gene DOID:5844 myocardial infarction ISO RGD:621065 D RGD:9068941 20200609 RGD PMID:21326109|REF_RGD_ID:5131507 8747290 Csf2 colony stimulating factor 2 gene DOID:6000 congestive heart failure ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872 8747290 Csf2 colony stimulating factor 2 gene DOID:630 genetic disease ISO RGD:1354508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747290 Csf2 colony stimulating factor 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:12731087|REF_RGD_ID:10450243 8747290 Csf2 colony stimulating factor 2 gene DOID:707 B-cell lymphoma treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:8469286|REF_RGD_ID:10450244 8747290 Csf2 colony stimulating factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 8747290 Csf2 colony stimulating factor 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:621065 D RGD:9068941 20201002 RGD protein:decreased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 8747290 Csf2 colony stimulating factor 2 gene DOID:7693 abdominal aortic aneurysm severity ISO RGD:621065 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta: PMID:15010288|REF_RGD_ID:10450246 8747290 Csf2 colony stimulating factor 2 gene DOID:8893 psoriasis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7744320 8747290 Csf2 colony stimulating factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:15658127|REF_RGD_ID:10449531 8747290 Csf2 colony stimulating factor 2 gene DOID:9000111 Radiation Injuries ISO RGD:1551314 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow,spleen: PMID:7662961|REF_RGD_ID:10449513 8747290 Csf2 colony stimulating factor 2 gene DOID:9000242 Lymphoma, AIDS-Related ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7680712|PMID:9817281 8747290 Csf2 colony stimulating factor 2 gene DOID:9000641 Pain ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8622042 8747290 Csf2 colony stimulating factor 2 gene DOID:9000998 Brain Injuries disease_progression ISO RGD:621065 D RGD:9068941 20200609 RGD PMID:21515263|REF_RGD_ID:5686795 8747290 Csf2 colony stimulating factor 2 gene DOID:9001488 Human Influenza ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:20427198|REF_RGD_ID:5131472 8747290 Csf2 colony stimulating factor 2 gene DOID:9001488 Human Influenza ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:21474645|REF_RGD_ID:5131470 8747290 Csf2 colony stimulating factor 2 gene DOID:9003278 Neoplasm, Residual ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14654953 8747290 Csf2 colony stimulating factor 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8120554 8747290 Csf2 colony stimulating factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8747290 Csf2 colony stimulating factor 2 gene DOID:9004484 Sepsis ISO RGD:1354508 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10664226|REF_RGD_ID:10449523 8747290 Csf2 colony stimulating factor 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 8747290 Csf2 colony stimulating factor 2 gene DOID:9005036 Bacteremia treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD PMID:2192004|REF_RGD_ID:10449532 8747290 Csf2 colony stimulating factor 2 gene DOID:9005372 Inflammation ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159501 8747290 Csf2 colony stimulating factor 2 gene DOID:9005532 Muscle Weakness ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8622042 8747290 Csf2 colony stimulating factor 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7960606 8747290 Csf2 colony stimulating factor 2 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1354508 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:20088864|REF_RGD_ID:4143440 8747290 Csf2 colony stimulating factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354508 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8747290 Csf2 colony stimulating factor 2 gene DOID:9007073 Cough treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:9525446|REF_RGD_ID:10449525 8747290 Csf2 colony stimulating factor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17326190 8747290 Csf2 colony stimulating factor 2 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:1551314 D RGD:9068941 20200609 RGD associated with Neutropenia; PMID:1966550|REF_RGD_ID:10449524 8747290 Csf2 colony stimulating factor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15289873 8747290 Csf2 colony stimulating factor 2 gene DOID:9008763 Femoral Fractures ISO RGD:621065 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 8747290 Csf2 colony stimulating factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11325840 8747290 Csf2 colony stimulating factor 2 gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11732872 8747290 Csf2 colony stimulating factor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 8747290 Csf2 colony stimulating factor 2 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:1826536|REF_RGD_ID:10449528 8747290 Csf2 colony stimulating factor 2 gene DOID:9146 visceral leishmaniasis ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404324 8747290 Csf2 colony stimulating factor 2 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1354508 D RGD:9068941 20200609 RGD PMID:8035028|REF_RGD_ID:10449527 8747290 Csf2 colony stimulating factor 2 gene DOID:9538 multiple myeloma ISO RGD:1354508 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7540856|PMID:8104070|PMID:8555506 8747332 Paxx PAXX non-homologous end joining factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8747332 Paxx PAXX non-homologous end joining factor gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1606404 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8747332 Paxx PAXX non-homologous end joining factor gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1606404 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8747332 Paxx PAXX non-homologous end joining factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8747332 Paxx PAXX non-homologous end joining factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1606404 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8747332 Paxx PAXX non-homologous end joining factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8747332 Paxx PAXX non-homologous end joining factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606404 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8747332 Paxx PAXX non-homologous end joining factor gene DOID:0081097 Rafiq syndrome ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8747332 Paxx PAXX non-homologous end joining factor gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606404 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8747332 Paxx PAXX non-homologous end joining factor gene DOID:1826 epilepsy ISO RGD:1606404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8747332 Paxx PAXX non-homologous end joining factor gene DOID:3652 Leigh disease ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8747332 Paxx PAXX non-homologous end joining factor gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1606404 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:0050912 colon adenoma ISO RGD:735457 D RGD:9068941 20220519 RGD protein:increased expression:colon (human) PMID:29079724|REF_RGD_ID:152177516 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:0060041 autism spectrum disorder ISO RGD:735457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:0080572 congenital disorder of glycosylation Iw ISO RGD:735457 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:10283 prostate cancer ISO RGD:735457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:1059 intellectual disability ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:11446 sciatic neuropathy ISO RGD:70973 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord dorsal horn PMID:16026470|REF_RGD_ID:6906922 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:13884 sick sinus syndrome ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:1826 epilepsy ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:735457 D RGD:9068941 20220519 RGD protein:increased expression:colon (human) PMID:29079724|REF_RGD_ID:152177516 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:3312 bipolar disorder ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28194001 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:446 primary hyperaldosteronism ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913001 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:630 genetic disease ISO RGD:735457 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26680202|PMID:28492532|PMID:32561571|PMID:33432195 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:657 adenoma ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913001|PMID:23913004 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9000006 Supraventricular Tachycardia ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9000307 Presbycusis ISO RGD:735458 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cochlea PMID:23470431|REF_RGD_ID:10045570 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9002231 Fetal Growth Retardation ISO RGD:70973 D RGD:9068941 20220609 RGD protein:decreased expression:pancreas (rat) PMID:20873977|REF_RGD_ID:152985538 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9003163 Heart Block ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9003830 Primary Aldosteronism, Seizures, and Neurologic Abnormalities ISO RGD:735457 D RGD:7240710 20180130 OMIM 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9003830 Primary Aldosteronism, Seizures, and Neurologic Abnormalities ISO RGD:735457 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: CACNA1D-related condition | ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities PMID:23913001|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28318089|PMID:28492532|PMID:30847666 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9004120 Alcohol Withdrawal Seizures susceptibility ISO RGD:70973 D RGD:9068941 20220609 RGD mRNA, protein:increased expression:inferior colliculus (rat) PMID:25556199|REF_RGD_ID:152985539 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9004538 Hearing Loss ISO RGD:735457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16199547|PMID:28492532|PMID:30311386 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9004852 Sinoatrial Node Dysfunction and Deafness ISO RGD:735457 D RGD:7240710 20180130 OMIM 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9004852 Sinoatrial Node Dysfunction and Deafness ISO RGD:735457 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness PMID:21131953|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30498240|PMID:32747562 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9006205 Animal Disease Models ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9007001 Bradycardia ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26831068 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9008023 Memory Disorders ISO RGD:70973 D RGD:9068941 20200609 RGD PMID:12591156|REF_RGD_ID:704382 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:70973 D RGD:9068941 20200609 RGD PMID:18947822|REF_RGD_ID:6906919 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9008681 Deafness ISO RGD:735457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15357422 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9008681 Deafness ISO RGD:735458 D RGD:9068941 20200609 RGD PMID:10929716|REF_RGD_ID:1300292 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9352 type 2 diabetes mellitus ISO RGD:735457 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet: PMID:23229155|REF_RGD_ID:13506727 8747352 Cacna1d calcium voltage-gated channel subunit alpha1 D gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735457 D RGD:9068941 20200609 RGD DNA:SNPs: :rs9841978,rs312486(human) PMID:23229155|REF_RGD_ID:13506727 8747433 Zfyve27 zinc finger FYVE-type containing 27 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1352080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 8747433 Zfyve27 zinc finger FYVE-type containing 27 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1352080 D RGD:7240710 20180130 OMIM 8747433 Zfyve27 zinc finger FYVE-type containing 27 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1352080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532|PMID:30564185 8747433 Zfyve27 zinc finger FYVE-type containing 27 gene DOID:607 paraplegia ISO RGD:1352080 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:16826525|PMID:17576681|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30564185 8747433 Zfyve27 zinc finger FYVE-type containing 27 gene DOID:630 genetic disease ISO RGD:1352080 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 8747464 Epm2a EPM2A glucan phosphatase, laforin gene DOID:1059 intellectual disability ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 8747464 Epm2a EPM2A glucan phosphatase, laforin gene DOID:1826 epilepsy ISO RGD:736258 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 8747464 Epm2a EPM2A glucan phosphatase, laforin gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 8747464 Epm2a EPM2A glucan phosphatase, laforin gene DOID:3534 Lafora disease ISO RGD:736258 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:17010495|PMID:17389303|PMID:19403557|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:33773408|PMID:34755096|PMID:9771710|PMID:9931343 8747464 Epm2a EPM2A glucan phosphatase, laforin gene DOID:630 genetic disease ISO RGD:736258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14532330|PMID:14706656|PMID:16021330|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18414213|PMID:20738377|PMID:21623095|PMID:21652633|PMID:22618127|PMID:25246353|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:30947044|PMID:31493945|PMID:33773408|PMID:34755096|PMID:9536098|PMID:9771710|PMID:9931343 8747464 Epm2a EPM2A glucan phosphatase, laforin gene DOID:83 cataract ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 8747464 Epm2a EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:31493945|PMID:9536098|PMID:9771710|PMID:9931343 8747464 Epm2a EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18311786|PMID:18414213|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:30041081|PMID:9536098|PMID:9771710|PMID:9931343 8747464 Epm2a EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:21652633|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:30947044|PMID:31227012|PMID:31493945|PMID:32342326|PMID:34117373|PMID:9536098|PMID:9771710|PMID:9931343 8747464 Epm2a EPM2A glucan phosphatase, laforin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:21652633|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:30947044|PMID:31227012|PMID:31493945|PMID:32342326|PMID:33773408|PMID:34117373|PMID:34755096|PMID:9536098|PMID:9771710|PMID:9931343 8747464 Epm2a EPM2A glucan phosphatase, laforin gene DOID:9005547 Myoclonic Epilepsy of Lafora 1 ISO RGD:736258 D RGD:7240710 20240131 OMIM 8747464 Epm2a EPM2A glucan phosphatase, laforin gene DOID:9006534 Nervous System Malformations ISO RGD:736258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8747479 Ift25 intraflagellar transport 25 gene DOID:14766 renal agenesis ISO RGD:1345374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis 8747479 Ift25 intraflagellar transport 25 gene DOID:630 genetic disease ISO RGD:1345374 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747515 Det1 DET1 partner of COP1 E3 ubiquitin ligase gene DOID:2717 Bloom syndrome ISO RGD:1348990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8747515 Det1 DET1 partner of COP1 E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1348990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747515 Det1 DET1 partner of COP1 E3 ubiquitin ligase gene DOID:9256 colorectal cancer ISO RGD:1348990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8747534 Cd109 CD109 molecule gene DOID:630 genetic disease ISO RGD:1322663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747534 Cd109 CD109 molecule gene DOID:9002189 High Myopia ISO RGD:1322663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8747534 Cd109 CD109 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 8747534 Cd109 CD109 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:1322663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:11372 megacolon ISO RGD:736817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:1210 optic neuritis ISO RGD:3102 D RGD:9068941 20200609 RGD PMID:23860028|REF_RGD_ID:9685554 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:1210 optic neuritis ISO RGD:736817 D RGD:9068941 20200609 RGD PMID:22157536|REF_RGD_ID:9685553 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:2377 multiple sclerosis ISO RGD:736817 D RGD:9068941 20200609 RGD PMID:17142321|REF_RGD_ID:9685374 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:3213 demyelinating disease ISO RGD:736817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23360710|PMID:23547115 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:630 genetic disease ISO RGD:736817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:8986 narcolepsy ISO RGD:736817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10909 D RGD:9068941 20200609 RGD PMID:14624757|REF_RGD_ID:9685375 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3102 D RGD:9068941 20200609 RGD PMID:10384097|PMID:12799014|REF_RGD_ID:9685372|REF_RGD_ID:9685373 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736817 D RGD:9068941 20200609 RGD PMID:14624757|REF_RGD_ID:9685375 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736817 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:12904460|PMID:16931536|PMID:17654737|PMID:17728465|PMID:18566399|PMID:18667803|PMID:21068375|PMID:21317386|PMID:21341682|PMID:23360710|PMID:23547115|PMID:23639249|PMID:30661753 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:9005246 Paralysis ISO RGD:736817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23547115 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:9006506 Narcolepsy 7 ISO RGD:736817 D RGD:7240710 20180130 OMIM 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:9006506 Narcolepsy 7 ISO RGD:736817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Narcolepsy 7 PMID:21907016|PMID:25741868 8747568 Mog myelin oligodendrocyte glycoprotein gene DOID:9007553 neurotoxicity treatment ISO RGD:3102 D RGD:9068941 20230323 RGD PMID:33166664|REF_RGD_ID:213230154 8747589 Gak cyclin G associated kinase gene DOID:14330 Parkinson's disease ISO RGD:731643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711177 8747589 Gak cyclin G associated kinase gene DOID:1856 cherubism ISO RGD:731643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8747589 Gak cyclin G associated kinase gene DOID:630 genetic disease ISO RGD:731643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747589 Gak cyclin G associated kinase gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:731643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 8747629 Aptx aprataxin gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1606553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532 8747629 Aptx aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1606553 D RGD:7240710 20180130 OMIM 8747629 Aptx aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1606553 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia PMID:11176957|PMID:11294920|PMID:11586299|PMID:11586300|PMID:12196655|PMID:12629250|PMID:14506070|PMID:15164193|PMID:15276230|PMID:15365154|PMID:15596775|PMID:15699391|PMID:15719174|PMID:15790557|PMID:15852392|PMID:15876520|PMID:15996403|PMID:16400613|PMID:16700949|PMID:17242337|PMID:18004640|PMID:18403580|PMID:21228398|PMID:21465257|PMID:21486904|PMID:21984210|PMID:23183622|PMID:23659632|PMID:24033266|PMID:24362567|PMID:25637650|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532|PMID:28516743|PMID:28652255|PMID:28881617|PMID:29356829|PMID:29482223|PMID:29934293|PMID:30609409|PMID:31493945|PMID:32214227|PMID:32606550|PMID:32750061|PMID:33624863 8747629 Aptx aprataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 susceptibility ISO RGD:1606553 D RGD:9068941 20200609 RGD DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human) PMID:12196655|REF_RGD_ID:1599207 8747629 Aptx aprataxin gene DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 ISO RGD:1606553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532 8747629 Aptx aprataxin gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8747629 Aptx aprataxin gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1606553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 8747629 Aptx aprataxin gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1606553 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8747629 Aptx aprataxin gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8747629 Aptx aprataxin gene DOID:14784 olivopontocerebellar atrophy ISO RGD:1606553 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:725G>A,457A>G(human) PMID:21465257|REF_RGD_ID:10054301 8747629 Aptx aprataxin gene DOID:1826 epilepsy ISO RGD:1606553 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 8747629 Aptx aprataxin gene DOID:630 genetic disease ISO RGD:1606553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11176957|PMID:11294920|PMID:11586299|PMID:11586300|PMID:12629250|PMID:14506070|PMID:15164193|PMID:15276230|PMID:15699391|PMID:15790557|PMID:15876520|PMID:15996403|PMID:16400613|PMID:16700949|PMID:17242337|PMID:18403580|PMID:21465257|PMID:21486904|PMID:24033266|PMID:25741868|PMID:26285866|PMID:26467025|PMID:28492532|PMID:29356829|PMID:29482223|PMID:31493945|PMID:32214227|PMID:32606550|PMID:32750061 8747629 Aptx aprataxin gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606553 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8747629 Aptx aprataxin gene DOID:9870 galactosemia ISO RGD:1606553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16225172|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30609409|PMID:31517061|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16225172|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:29478820|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30609409|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal | ClinVar Annotator: match by term: Carnitine palmitoyltransferase deficiency type 2 PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:30957255|PMID:31372341|PMID:31501239|PMID:31770251|PMID:32295037|PMID:32411386|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:736835 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal | ClinVar Annotator: match by term: Carnitine palmitoyltransferase deficiency type 2 PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:30957255|PMID:31372341|PMID:31501239|PMID:31770251|PMID:32295037|PMID:32411386|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:34626609|PMID:36109795|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:0080000 muscular disease ISO RGD:736835 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:25741868 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:10907 microcephaly ISO RGD:736835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:12450 pancytopenia ISO RGD:736835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:1826 epilepsy ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:12673791|PMID:17709715|PMID:18363739|PMID:20301431|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:8682496|PMID:9600456 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:3146 lipid metabolism disorder ISO RGD:736835 D RGD:9068941 20200609 RGD infantile form CPT2 deficiency, OMIM:600649, R631C PMID:1528846|REF_RGD_ID:1600742 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:423 myopathy ISO RGD:736835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:630 genetic disease ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:28492532|PMID:28779239|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:32295037|PMID:736528|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:848 arthritis ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arthritis PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9000884 Rhabdomyolysis ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:28492532|PMID:28779239|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:32295037|PMID:736528|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal ISO RGD:736835 D RGD:7240710 20240117 OMIM 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal ISO RGD:736835 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19762733|PMID:20301431|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22494076|PMID:22652984|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28600779|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:30957255|PMID:31372341|PMID:31501239|PMID:32295037|PMID:32411386|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9003171 Primary Dysautonomias ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dysautonomia PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9005627 Metabolic Brain Diseases ISO RGD:736835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21816645 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12673791|PMID:17709715|PMID:18363739|PMID:20301431|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:8682496|PMID:9600456 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9006638 Sinus Tachycardia ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sinus tachycardia PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9007573 Flatfoot ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: flatfoot PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency ISO RGD:736835 D RGD:7240710 20240117 OMIM 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency ISO RGD:736835 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:19762733|PMID:1999498|PMID:20301431|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22494076|PMID:22652984|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28600779|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:30957255|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:34626609|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile ISO RGD:736835 D RGD:7240710 20240117 OMIM 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile ISO RGD:736835 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:1999498|PMID:20301431|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30957255|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9008214 Genu Valgum ISO RGD:736835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genu valgum PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:9008520 Chronic Pain ISO RGD:736835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chronic pain PMID:10090476|PMID:12410208|PMID:12707442|PMID:15622536|PMID:16996287|PMID:17936304|PMID:20301431|PMID:22975760|PMID:25741868|PMID:28492532|PMID:7711730|PMID:9600456 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:936 brain disease ISO RGD:736835 D RGD:7240710 20240117 OMIM 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:936 brain disease ISO RGD:736835 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:10090476|PMID:10398215|PMID:10862092|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:19762733|PMID:20301431|PMID:20810031|PMID:21227726|PMID:21709843|PMID:21913903|PMID:22652984|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 8747650 Cpt2 carnitine palmitoyltransferase 2 gene DOID:936 brain disease ISO RGD:736835 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:20301431|PMID:20543534|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:27067077|PMID:27123472|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30957255|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712 8747675 Nlrp4 NLR family pyrin domain containing 4 gene DOID:630 genetic disease ISO RGD:1323147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747687 Nfe2l1 NFE2 like bZIP transcription factor 1 gene DOID:630 genetic disease ISO RGD:1323705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747687 Nfe2l1 NFE2 like bZIP transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1323706 D RGD:9068941 20220825 MouseDO OMIM:114550 8747687 Nfe2l1 NFE2 like bZIP transcription factor 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1311972 D RGD:9068941 20231221 RGD PMID:20501665|REF_RGD_ID:10003160 8747687 Nfe2l1 NFE2 like bZIP transcription factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1323705 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Global developmental delay 8747701 Arhgap15 Rho GTPase activating protein 15 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1348610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 8747701 Arhgap15 Rho GTPase activating protein 15 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1348610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 8747701 Arhgap15 Rho GTPase activating protein 15 gene DOID:630 genetic disease ISO RGD:1348610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:0050127 sinusitis ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:21711960|REF_RGD_ID:6483796 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:735638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:10591 pre-eclampsia ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21722073|REF_RGD_ID:6484119 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:11729 Lyme disease ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:19461880|REF_RGD_ID:6483813 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:11729 Lyme disease ISO RGD:735638 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:19461880|REF_RGD_ID:6483813 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:12849 autistic disorder ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19360663|PMID:21328570 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:1287 cardiovascular system disease ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:22119508|REF_RGD_ID:6483791 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:14115 toxic shock syndrome ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:20693875|REF_RGD_ID:6484122 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:14566 disease of cellular proliferation ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22261521 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:14566 disease of cellular proliferation ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:14595671|REF_RGD_ID:1549414 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:1824 status epilepticus ISO RGD:620597 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:19527776|REF_RGD_ID:6483810 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:2043 hepatitis B severity ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18691743|REF_RGD_ID:6483828 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:2957 pulmonary tuberculosis severity ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:18359089|REF_RGD_ID:6483832 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:305 carcinoma ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302576 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:620597 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:17651644|REF_RGD_ID:6484146 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:3526 cerebral infarction ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:20138161|REF_RGD_ID:6483804 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:5052 melioidosis ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:20142364|REF_RGD_ID:6484129 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:5052 melioidosis ISO RGD:735638 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood, granulocyte, monocyte PMID:20142364|REF_RGD_ID:6484129 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22098627|REF_RGD_ID:6484116 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21384094|REF_RGD_ID:6484120 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:20229356|REF_RGD_ID:6484128 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:5419 schizophrenia ISO RGD:735638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:5844 myocardial infarction ISO RGD:620597 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:20952728|REF_RGD_ID:6484133 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:5844 myocardial infarction ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:12393744|REF_RGD_ID:1580897 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:630 genetic disease ISO RGD:735638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:649 prion disease ISO RGD:733132 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:19459212|REF_RGD_ID:6483816 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:7148 rheumatoid arthritis ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:22011479|REF_RGD_ID:6484117 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:783 end stage renal disease ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:19926968|REF_RGD_ID:6483806 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:8283 peritonitis ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:20693875|REF_RGD_ID:6484122 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:1304722|REF_RGD_ID:6483787 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:8778 Crohn's disease ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:21114432|REF_RGD_ID:6483800 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:21573723|REF_RGD_ID:6483797 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9000169 Systemic Inflammatory Response Syndrome disease_progression ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:18197443|REF_RGD_ID:6484114 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9000310 Lung Injury ISO RGD:733132 D RGD:9068941 20200609 RGD associated with Hyperoxia PMID:19435793|REF_RGD_ID:6483820 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:733132 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:22577342|REF_RGD_ID:6483788 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15659795 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22098627|REF_RGD_ID:6484116 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9001472 Nasal Polyps ISO RGD:735638 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:21711960|REF_RGD_ID:6483796 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302576 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9004009 Reperfusion Injury ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:18606671|REF_RGD_ID:6483829 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9004484 Sepsis ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22550400|REF_RGD_ID:6483789 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:620597 D RGD:9068941 20200609 RGD PMID:12198772|REF_RGD_ID:729319 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22261521 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9005036 Bacteremia severity ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:21332843|REF_RGD_ID:6483799 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9005372 Inflammation ISO RGD:735638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22261521 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:735638 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22050462|REF_RGD_ID:6483792 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9471 meningitis disease_progression ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:21971819|REF_RGD_ID:6484118 8747724 Plaur plasminogen activator, urokinase receptor gene DOID:9970 obesity ISO RGD:735638 D RGD:9068941 20200609 RGD PMID:21372607|REF_RGD_ID:6484121 8747732 Pappa2 pappalysin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312133 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8747732 Pappa2 pappalysin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8747732 Pappa2 pappalysin 2 gene DOID:630 genetic disease ISO RGD:1312133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747732 Pappa2 pappalysin 2 gene DOID:9005722 SHORT STATURE, DAUBER-ARGENTE TYPE ISO RGD:1312133 D RGD:7240710 20211103 OMIM 8747732 Pappa2 pappalysin 2 gene DOID:9005722 SHORT STATURE, DAUBER-ARGENTE TYPE ISO RGD:1312133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature, Dauber-Argente type PMID:25741868|PMID:26902202|PMID:34272725 8747732 Pappa2 pappalysin 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1312133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8747732 Pappa2 pappalysin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8747759 Ttc14 tetratricopeptide repeat domain 14 gene DOID:0110598 primary ciliary dyskinesia 14 ISO RGD:1320720 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 PMID:21131972|PMID:23255504|PMID:24033266|PMID:25741868|PMID:28492532 8747759 Ttc14 tetratricopeptide repeat domain 14 gene DOID:0111546 Currarino syndrome ISO RGD:1320720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8747759 Ttc14 tetratricopeptide repeat domain 14 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1320720 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 8747759 Ttc14 tetratricopeptide repeat domain 14 gene DOID:630 genetic disease ISO RGD:1320720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8747759 Ttc14 tetratricopeptide repeat domain 14 gene DOID:9004821 Fibrous Sheath Dysplasia ISO RGD:1320720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous Sheath Dysplasia 8747759 Ttc14 tetratricopeptide repeat domain 14 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320720 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:21131972|PMID:23255504|PMID:23891469|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33005176|PMID:9536098 8747775 Sh3bp5l SH3 binding domain protein 5 like gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606500 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8747775 Sh3bp5l SH3 binding domain protein 5 like gene DOID:630 genetic disease ISO RGD:1606500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747799 Spatc1 spermatogenesis and centriole associated 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1344287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8747799 Spatc1 spermatogenesis and centriole associated 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1344287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8747799 Spatc1 spermatogenesis and centriole associated 1 gene DOID:4621 holoprosencephaly ISO RGD:1344287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8747799 Spatc1 spermatogenesis and centriole associated 1 gene DOID:630 genetic disease ISO RGD:1344287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747811 Icos inducible T cell costimulator gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1344621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8747811 Icos inducible T cell costimulator gene DOID:0060025 immunoglobulin alpha deficiency susceptibility ISO RGD:1344621 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs4521021,rs10172036(human) PMID:19020530|REF_RGD_ID:11344917 8747811 Icos inducible T cell costimulator gene DOID:0060180 colitis ISO RGD:620123 D RGD:9068941 20200609 RGD protein:increased expression:T-cell PMID:14731127|REF_RGD_ID:1624274 8747811 Icos inducible T cell costimulator gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1344621 D RGD:7240710 20190710 OMIM 8747811 Icos inducible T cell costimulator gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1344621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:11956294|PMID:12353035|PMID:12577056|PMID:15507387|PMID:16199547|PMID:17576681|PMID:19380800|PMID:20817864|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25741868|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257|PMID:31858365|PMID:32499645|PMID:9536098 8747811 Icos inducible T cell costimulator gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1344621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8747811 Icos inducible T cell costimulator gene DOID:10608 celiac disease susceptibility ISO RGD:1344621 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs10932037(human) PMID:19020530|REF_RGD_ID:11344917 8747811 Icos inducible T cell costimulator gene DOID:12177 common variable immunodeficiency ISO RGD:1344621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8747811 Icos inducible T cell costimulator gene DOID:12177 common variable immunodeficiency ISO RGD:732863 D RGD:9068941 20220825 MouseDO OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767 8747811 Icos inducible T cell costimulator gene DOID:13141 uveitis ISO RGD:620123 D RGD:9068941 20200609 RGD protein:increased expression:spleen, lymph node, retina PMID:16601981|REF_RGD_ID:1624269 8747811 Icos inducible T cell costimulator gene DOID:14557 primary pulmonary hypertension ISO RGD:1344621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8747811 Icos inducible T cell costimulator gene DOID:2349 arteriosclerosis ISO RGD:732863 D RGD:9068941 20200609 RGD PMID:17060381|REF_RGD_ID:1624268 8747811 Icos inducible T cell costimulator gene DOID:612 primary immunodeficiency disease ISO RGD:1344621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11343122|PMID:11956294|PMID:12577056|PMID:16199547|PMID:19380800|PMID:20817864|PMID:25741868|PMID:28492532|PMID:31858365|PMID:32499645 8747811 Icos inducible T cell costimulator gene DOID:630 genetic disease ISO RGD:1344621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8747811 Icos inducible T cell costimulator gene DOID:820 myocarditis ISO RGD:620123 D RGD:9068941 20200609 RGD PMID:12829180|REF_RGD_ID:1624275 8747811 Icos inducible T cell costimulator gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1344621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8747811 Icos inducible T cell costimulator gene DOID:9002823 Gram-Positive Bacterial Infections ISO RGD:732863 D RGD:9068941 20200609 RGD PMID:12421962|REF_RGD_ID:1624276 8747811 Icos inducible T cell costimulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8747811 Icos inducible T cell costimulator gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1344621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8747811 Icos inducible T cell costimulator gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1344621 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8747822 Gdap1l1 ganglioside induced differentiation associated protein 1 like 1 gene DOID:2234 focal epilepsy ISO RGD:1312703 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8747822 Gdap1l1 ganglioside induced differentiation associated protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1312703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747822 Gdap1l1 ganglioside induced differentiation associated protein 1 like 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1312703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8747847 Mypn myopalladin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532|PMID:29016939|PMID:31983221 8747847 Mypn myopalladin gene DOID:0050700 cardiomyopathy ISO RGD:1318320 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27884173|PMID:27896284|PMID:28492532 8747847 Mypn myopalladin gene DOID:0060224 atrial fibrillation ISO RGD:1318320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8747847 Mypn myopalladin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1318320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:18006477|PMID:25741868|PMID:26084686|PMID:28492532|PMID:28798025|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476 8747847 Mypn myopalladin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:26084686|PMID:28492532|PMID:28798025|PMID:30847666 8747847 Mypn myopalladin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25741868|PMID:28492532 8747847 Mypn myopalladin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:24033266|PMID:25741868|PMID:28492532 8747847 Mypn myopalladin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 8747847 Mypn myopalladin gene DOID:0110445 dilated cardiomyopathy 1KK ISO RGD:1318320 D RGD:7240710 20180130 OMIM 8747847 Mypn myopalladin gene DOID:0110445 dilated cardiomyopathy 1KK ISO RGD:1318320 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 4 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 22 | ClinVar Annotator: match by term: MYPN-related condition PMID:16199547|PMID:17576681|PMID:18006477|PMID:20801532|PMID:22286171|PMID:22337857|PMID:22892539|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24558114|PMID:25163546|PMID:25448463|PMID:25640679|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383716|PMID:26458567|PMID:26498160|PMID:26899768|PMID:27532257|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28017374|PMID:28087566|PMID:28416588|PMID:28427417|PMID:28492532|PMID:28611029|PMID:28798025|PMID:28831623|PMID:29016939|PMID:29247119|PMID:29447731|PMID:29875424|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30260051|PMID:30471092|PMID:30531895|PMID:30775854|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32140910|PMID:32880476|PMID:33049752|PMID:33297573|PMID:33552729|PMID:33658040|PMID:33906374|PMID:34088380|PMID:34184449|PMID:34426522|PMID:34797172|PMID:34935411|PMID:35026164|PMID:35581137|PMID:36178741|PMID:36935760|PMID:9536098 8747847 Mypn myopalladin gene DOID:0110933 nemaline myopathy 11 ISO RGD:1318320 D RGD:7240710 20190315 OMIM 8747847 Mypn myopalladin gene DOID:0110933 nemaline myopathy 11 ISO RGD:1318320 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:17576681|PMID:18006477|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24558114|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27896284|PMID:28017374|PMID:28220527|PMID:28416588|PMID:28427417|PMID:28492532|PMID:29247119|PMID:29447731|PMID:30471092|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31983221|PMID:32880476|PMID:33297573|PMID:33906374|PMID:34088380|PMID:34184449|PMID:34797172|PMID:35026164|PMID:35581137|PMID:36178741|PMID:36935760|PMID:9536098 8747847 Mypn myopalladin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27884173|PMID:27896284|PMID:28492532|PMID:31513939 8747847 Mypn myopalladin gene DOID:12930 dilated cardiomyopathy ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:31333075|PMID:31568572 8747847 Mypn myopalladin gene DOID:12930 dilated cardiomyopathy ISO RGD:1318320 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572 8747847 Mypn myopalladin gene DOID:12930 dilated cardiomyopathy ISO RGD:1318320 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476|PMID:33049752|PMID:34797172|PMID:35581137|PMID:36178741|PMID:36935760 8747847 Mypn myopalladin gene DOID:2843 long QT syndrome ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 8747847 Mypn myopalladin gene DOID:397 restrictive cardiomyopathy ISO RGD:1318320 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532|PMID:30775854|PMID:31568572 8747847 Mypn myopalladin gene DOID:6000 congestive heart failure ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532 8747847 Mypn myopalladin gene DOID:630 genetic disease ISO RGD:1318320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8747847 Mypn myopalladin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1318320 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:29447731|PMID:30847666|PMID:31110529|PMID:33297573 8747847 Mypn myopalladin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1318320 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:28492532|PMID:29447731|PMID:30847666|PMID:31110529|PMID:33297573 8747847 Mypn myopalladin gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 8747847 Mypn myopalladin gene DOID:9007820 Sudden Death ISO RGD:1318320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 8747871 Mmrn2 multimerin 2 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1322933 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8747871 Mmrn2 multimerin 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1322933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8747871 Mmrn2 multimerin 2 gene DOID:630 genetic disease ISO RGD:1322933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:0050436 mulibrey nanism ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Perheentupa syndrome PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:0050675 Birk-Barel syndrome ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:10283 prostate cancer ISO RGD:1312585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:1059 intellectual disability ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:10629 microphthalmia ISO RGD:1312586 D RGD:9068941 20220825 MouseDO 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:1826 epilepsy ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:630 genetic disease ISO RGD:1312585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:670 amphetamine abuse ISO RGD:1312585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:83 cataract ISO RGD:1312586 D RGD:9068941 20220825 MouseDO OMIM:601371 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:9001283 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT ISO RGD:1312585 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract PMID:26056285|PMID:28492532|PMID:37321975 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312585 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31278393|PMID:32427099 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:9005266 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES ISO RGD:1312585 D RGD:7240710 20230830 OMIM 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:9005266 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES ISO RGD:1312585 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:9006366 Cataract 50 with or without Glaucoma ISO RGD:1312585 D RGD:7240710 20230505 OMIM 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:9006366 Cataract 50 with or without Glaucoma ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 50 with or without glaucoma PMID:25090642 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1312585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:29539642|PMID:31278393|PMID:32343227|PMID:32439617|PMID:34438093|PMID:35146895 8747882 Trpm3 transient receptor potential cation channel subfamily M member 3 gene DOID:9008582 Developmental Disease ISO RGD:1312585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8747959 Odad1 outer dynein arm docking complex subunit 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1602080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:9536098 8747959 Odad1 outer dynein arm docking complex subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1602080 D RGD:9068941 20231005 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8747959 Odad1 outer dynein arm docking complex subunit 1 gene DOID:0110625 primary ciliary dyskinesia 20 ISO RGD:1602080 D RGD:7240710 20180130 OMIM 8747959 Odad1 outer dynein arm docking complex subunit 1 gene DOID:0110625 primary ciliary dyskinesia 20 ISO RGD:1602080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 20 PMID:16199547|PMID:17576681|PMID:23261302|PMID:23261303|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30067075|PMID:32111882|PMID:9536098 8747959 Odad1 outer dynein arm docking complex subunit 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1602080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:25741868|PMID:28492532 8747959 Odad1 outer dynein arm docking complex subunit 1 gene DOID:630 genetic disease ISO RGD:1602080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8747959 Odad1 outer dynein arm docking complex subunit 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602080 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23261302|PMID:23261303|PMID:24033266|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30067075|PMID:30291279|PMID:31213628|PMID:32111882|PMID:9536098 8747976 Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) gene DOID:0070243 primary coenzyme Q10 deficiency 6 ISO RGD:1343601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness PMID:21540551|PMID:24140869|PMID:25741868|PMID:28044327|PMID:28117207|PMID:28173653|PMID:28492532|PMID:30232548|PMID:30584653|PMID:30682496|PMID:31937884 8747976 Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1343601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 8747976 Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) gene DOID:1059 intellectual disability ISO RGD:1343601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8747976 Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) gene DOID:630 genetic disease ISO RGD:1343601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8748006 Gask1b golgi associated kinase 1B gene DOID:0080600 COVID-19 ISO RGD:1605394 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8748006 Gask1b golgi associated kinase 1B gene DOID:630 genetic disease ISO RGD:1605394 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748006 Gask1b golgi associated kinase 1B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8748015 Sel1l SEL1L adaptor subunit of SYVN1 ubiquitin ligase gene DOID:0050753 cerebellar ataxia ISO RGD:12228548 D RGD:9068941 20230629 OMIA Ataxia, cerebellar, progressive early-onset, SEL1L-related PMID:22719266|PMID:37341581 8748015 Sel1l SEL1L adaptor subunit of SYVN1 ubiquitin ligase gene DOID:1793 pancreatic cancer ISO RGD:1351070 D RGD:9068941 20200609 RGD PMID:14508516|REF_RGD_ID:2317190 8748015 Sel1l SEL1L adaptor subunit of SYVN1 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1351070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748048 Strn striatin gene DOID:630 genetic disease ISO RGD:736385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748048 Strn striatin gene DOID:9000998 Brain Injuries ISO RGD:3782 D RGD:9068941 20200609 RGD PMID:16351572|REF_RGD_ID:2311293 8748072 Fpgt fucose-1-phosphate guanylyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1342569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8748072 Fpgt fucose-1-phosphate guanylyltransferase gene DOID:630 genetic disease ISO RGD:1342569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748083 Znf584 zinc finger protein 584 gene DOID:630 genetic disease ISO RGD:1348200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748095 Slc2a13 solute carrier family 2 member 13 gene DOID:303 substance-related disorder ISO RGD:731999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8748095 Slc2a13 solute carrier family 2 member 13 gene DOID:630 genetic disease ISO RGD:731999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748119 Hoxa6 homeobox A6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8748119 Hoxa6 homeobox A6 gene DOID:630 genetic disease ISO RGD:1352106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748129 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:0050753 cerebellar ataxia ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8748129 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:0050989 episodic ataxia type 1 ISO RGD:731012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8748129 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:731012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8748129 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:10485 esophageal atresia ISO RGD:731012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8748129 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:1826 epilepsy ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure PMID:25741868 8748129 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:2234 focal epilepsy ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 8748129 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:630 genetic disease ISO RGD:731012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748129 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:9003816 Macrocephaly ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 8748129 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:9007573 Flatfoot ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: flatfoot PMID:25741868 8748129 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:731012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8748129 Kcna6 potassium voltage-gated channel subfamily A member 6 gene DOID:9834 hyperopia ISO RGD:731012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperopia PMID:25741868 8748141 Zc4h2 zinc finger C4H2-type containing gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8748141 Zc4h2 zinc finger C4H2-type containing gene DOID:0060815 Miles-Carpenter syndrome ISO RGD:1349237 D RGD:7240710 20180321 OMIM 8748141 Zc4h2 zinc finger C4H2-type containing gene DOID:0060815 Miles-Carpenter syndrome ISO RGD:1349237 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability PMID:17576681|PMID:1915520|PMID:19377476|PMID:2018061|PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972|PMID:32860008|PMID:36250278|PMID:4039531|PMID:9536098 8748141 Zc4h2 zinc finger C4H2-type containing gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1349237 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 8748141 Zc4h2 zinc finger C4H2-type containing gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1349237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 8748141 Zc4h2 zinc finger C4H2-type containing gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1349237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23623388 8748141 Zc4h2 zinc finger C4H2-type containing gene DOID:10907 microcephaly ISO RGD:1349237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26056227 8748141 Zc4h2 zinc finger C4H2-type containing gene DOID:12849 autistic disorder ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8748141 Zc4h2 zinc finger C4H2-type containing gene DOID:630 genetic disease ISO RGD:1349237 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:23623388|PMID:25644381|PMID:25741868|PMID:26056227|PMID:28492532|PMID:28814648|PMID:31206972 8748141 Zc4h2 zinc finger C4H2-type containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:1915520|PMID:23623388|PMID:25741868|PMID:28814648 8748141 Zc4h2 zinc finger C4H2-type containing gene DOID:9008262 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED ISO RGD:1349237 D RGD:7240710 20200826 OMIM 8748141 Zc4h2 zinc finger C4H2-type containing gene DOID:9008262 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED ISO RGD:1349237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted PMID:23623388|PMID:25741868|PMID:28814648|PMID:31206972 8748158 Slc25a27 solute carrier family 25 member 27 gene DOID:5419 schizophrenia susceptibility ISO RGD:1344458 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr: (rs10807344, rs2270450) PMID:17066476|REF_RGD_ID:6482844 8748158 Slc25a27 solute carrier family 25 member 27 gene DOID:630 genetic disease ISO RGD:1344458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748158 Slc25a27 solute carrier family 25 member 27 gene DOID:9000039 Spinal Cord Injuries ISO RGD:732894 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18534681|REF_RGD_ID:6482843 8748222 Larp6 La ribonucleoprotein 6, translational regulator gene DOID:2717 Bloom syndrome ISO RGD:1605069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8748222 Larp6 La ribonucleoprotein 6, translational regulator gene DOID:630 genetic disease ISO RGD:1605069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748222 Larp6 La ribonucleoprotein 6, translational regulator gene DOID:9256 colorectal cancer ISO RGD:1605069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8748237 Hlcs holocarboxylase synthetase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8748237 Hlcs holocarboxylase synthetase gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1320489 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8748237 Hlcs holocarboxylase synthetase gene DOID:1826 epilepsy ISO RGD:1320489 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8748237 Hlcs holocarboxylase synthetase gene DOID:630 genetic disease ISO RGD:1320489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16134170|PMID:24033266|PMID:24215330|PMID:25741868|PMID:27604308|PMID:28492532 8748237 Hlcs holocarboxylase synthetase gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320489 D RGD:7240710 20180130 OMIM 8748237 Hlcs holocarboxylase synthetase gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320489 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:10068510|PMID:10190325|PMID:10590022|PMID:10653324|PMID:11124959|PMID:11185745|PMID:11735028|PMID:12124727|PMID:12633764|PMID:15635070|PMID:16134170|PMID:16199547|PMID:16231399|PMID:17274881|PMID:17407983|PMID:17576681|PMID:18429047|PMID:18442489|PMID:18974016|PMID:19157941|PMID:19695181|PMID:19806568|PMID:20026029|PMID:20095979|PMID:21615476|PMID:21874615|PMID:21894551|PMID:22027809|PMID:24033266|PMID:24085707|PMID:24099927|PMID:24215330|PMID:24239178|PMID:25087612|PMID:25525159|PMID:25690727|PMID:25741868|PMID:26938784|PMID:27114915|PMID:27604308|PMID:28492532|PMID:29701239|PMID:32219826|PMID:32358368|PMID:32727382|PMID:33123633|PMID:6133032|PMID:7842009|PMID:8319716|PMID:8541348|PMID:8817339|PMID:9396568|PMID:9536098|PMID:9630604|PMID:9870216 8748262 Dipk1c divergent protein kinase domain 1C gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1353681 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8748262 Dipk1c divergent protein kinase domain 1C gene DOID:630 genetic disease ISO RGD:1353681 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748262 Dipk1c divergent protein kinase domain 1C gene DOID:6420 pulmonary valve stenosis ISO RGD:1353681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8748262 Dipk1c divergent protein kinase domain 1C gene DOID:8445 intestinal volvulus ISO RGD:1353681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8748262 Dipk1c divergent protein kinase domain 1C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8748262 Dipk1c divergent protein kinase domain 1C gene DOID:9008419 Volvulus Of Midgut ISO RGD:1353681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8748271 Mrps14 mitochondrial ribosomal protein S14 gene DOID:0111466 combined oxidative phosphorylation deficiency 38 ISO RGD:1319772 D RGD:7240710 20190911 OMIM 8748271 Mrps14 mitochondrial ribosomal protein S14 gene DOID:0111466 combined oxidative phosphorylation deficiency 38 ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 38 PMID:30358850 8748271 Mrps14 mitochondrial ribosomal protein S14 gene DOID:1540 parathyroid carcinoma ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8748271 Mrps14 mitochondrial ribosomal protein S14 gene DOID:3755 antithrombin III deficiency ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8748271 Mrps14 mitochondrial ribosomal protein S14 gene DOID:630 genetic disease ISO RGD:1319772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748271 Mrps14 mitochondrial ribosomal protein S14 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8748271 Mrps14 mitochondrial ribosomal protein S14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8748300 Il12rb2 interleukin 12 receptor subunit beta 2 gene DOID:0070360 primary biliary cholangitis 3 ISO RGD:1346577 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: IL12RB2-related condition PMID:25741868|PMID:28492532 8748300 Il12rb2 interleukin 12 receptor subunit beta 2 gene DOID:1059 intellectual disability ISO RGD:1346577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8748300 Il12rb2 interleukin 12 receptor subunit beta 2 gene DOID:630 genetic disease ISO RGD:1346577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8748300 Il12rb2 interleukin 12 receptor subunit beta 2 gene DOID:9000998 Brain Injuries ISO RGD:1346577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8748320 Ckb creatine kinase B gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:730974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 8748320 Ckb creatine kinase B gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:730974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8748320 Ckb creatine kinase B gene DOID:299 adenocarcinoma ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8748320 Ckb creatine kinase B gene DOID:5409 lung small cell carcinoma ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2828370 8748320 Ckb creatine kinase B gene DOID:5426 primary ovarian insufficiency ISO RGD:730974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8748320 Ckb creatine kinase B gene DOID:5844 myocardial infarction ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359538 8748320 Ckb creatine kinase B gene DOID:630 genetic disease ISO RGD:730974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748320 Ckb creatine kinase B gene DOID:9000217 Stomach Neoplasms ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8748320 Ckb creatine kinase B gene DOID:9001686 Acute Coronary Syndrome ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 8748320 Ckb creatine kinase B gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730974 D RGD:9068941 20200609 RGD PMID:12039490|REF_RGD_ID:1598441 8748320 Ckb creatine kinase B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406506 8748320 Ckb creatine kinase B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8748329 Pon2 paraoxonase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320575 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8748329 Pon2 paraoxonase 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:1309954 D RGD:9068941 20200609 RGD PMID:22536512|REF_RGD_ID:8661257 8748329 Pon2 paraoxonase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:16319130|REF_RGD_ID:5509926 8748329 Pon2 paraoxonase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C311S (human) PMID:11803456|REF_RGD_ID:1580219 8748329 Pon2 paraoxonase 2 gene DOID:1287 cardiovascular system disease ISO RGD:1320575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19152805 8748329 Pon2 paraoxonase 2 gene DOID:13810 familial hypercholesterolemia ISO RGD:1320575 D RGD:9068941 20200806 RGD DNA:missense mutation:cds:p.S311C (human) PMID:16776623|REF_RGD_ID:1642625 8748329 Pon2 paraoxonase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2 PMID:16822964|REF_RGD_ID:5509925 8748329 Pon2 paraoxonase 2 gene DOID:3393 coronary artery disease severity ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C311S (human) PMID:12454802|REF_RGD_ID:1580217 8748329 Pon2 paraoxonase 2 gene DOID:3526 cerebral infarction susceptibility ISO RGD:1320575 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes: (rs11545941, rs6954345) (human) PMID:20458436|REF_RGD_ID:401794454 8748329 Pon2 paraoxonase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8748329 Pon2 paraoxonase 2 gene DOID:630 genetic disease ISO RGD:1320575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748329 Pon2 paraoxonase 2 gene DOID:8725 vascular dementia ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C311S (human) PMID:11803456|REF_RGD_ID:1580219 8748329 Pon2 paraoxonase 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C311S (human) PMID:9443862|REF_RGD_ID:1580216 8748329 Pon2 paraoxonase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1320575 D RGD:9068941 20200609 RGD associated with type 1 diabetes mellitus;DNA:missense mutation:cds:p.C311S (human) PMID:11918623|REF_RGD_ID:1580218 8748329 Pon2 paraoxonase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1320575 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:polymorphisms:multiple PMID:11206400|REF_RGD_ID:2313492 8748329 Pon2 paraoxonase 2 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:23327886|REF_RGD_ID:8661240 8748329 Pon2 paraoxonase 2 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1320575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 8748329 Pon2 paraoxonase 2 gene DOID:9007096 Stroke ISO RGD:1320575 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:missense mutation:cds:p.S311C (human) PMID:12778447|REF_RGD_ID:2313491 8748329 Pon2 paraoxonase 2 gene DOID:9007096 Stroke ISO RGD:1320575 D RGD:9068941 20200609 RGD large vessel disease (LVD) stroke;DNA:missense mutation:cds:p.C311S (human) PMID:17406108|REF_RGD_ID:1642614 8748329 Pon2 paraoxonase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320575 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S311C (human) PMID:18776646|REF_RGD_ID:2313490 8748329 Pon2 paraoxonase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320575 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy;DNA:missense mutation:cds:p.C310S (human) PMID:10677395|REF_RGD_ID:8547560 8748329 Pon2 paraoxonase 2 gene DOID:9970 obesity ISO RGD:1309954 D RGD:9068941 20200609 RGD protein:increased expression:white adipose tissue PMID:21365757|REF_RGD_ID:8661255 8748342 Hephl1 hephaestin like 1 gene DOID:1059 intellectual disability ISO RGD:1345614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8748342 Hephl1 hephaestin like 1 gene DOID:630 genetic disease ISO RGD:1345614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8748342 Hephl1 hephaestin like 1 gene DOID:9001311 Lichen Planus Follicularis ISO RGD:1345614 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Lichen planus follicularis 8748342 Hephl1 hephaestin like 1 gene DOID:9001704 Pili Torti, Developmental Delay, Neurological Abnormalities ISO RGD:1345614 D RGD:7240710 20201202 OMIM 8748342 Hephl1 hephaestin like 1 gene DOID:9001704 Pili Torti, Developmental Delay, Neurological Abnormalities ISO RGD:1345614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pili torti and developmental delay PMID:25741868|PMID:31125343 8748366 Cwc25 CWC25 spliceosome associated protein homolog gene DOID:630 genetic disease ISO RGD:1603211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748384 Scai suppressor of cancer cell invasion gene DOID:630 genetic disease ISO RGD:1316447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748420 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1352000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:28492532 8748420 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:1059 intellectual disability ISO RGD:1352000 D RGD:9068941 20200609 RGD DNA:duplications:cds: (human) PMID:23376982|REF_RGD_ID:10045550 8748420 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:1793 pancreatic cancer ISO RGD:1352000 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:15796914|REF_RGD_ID:10045549 8748420 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:2752 glycogen storage disease II ISO RGD:1352000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:28492532 8748420 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:630 genetic disease ISO RGD:1352000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8748420 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:9004119 Richieri Costa Pereira Syndrome ISO RGD:1352000 D RGD:7240710 20180130 OMIM 8748420 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:9004119 Richieri Costa Pereira Syndrome ISO RGD:1352000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome PMID:24360810 8748420 Eif4a3 eukaryotic translation initiation factor 4A3 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1352000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 8748452 Slc25a21 solute carrier family 25 member 21 gene DOID:0050591 tooth agenesis ISO RGD:1350119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis PMID:25741868 8748452 Slc25a21 solute carrier family 25 member 21 gene DOID:0070449 mitochondrial DNA depletion syndrome 18 ISO RGD:1350119 D RGD:7240710 20200408 OMIM 8748452 Slc25a21 solute carrier family 25 member 21 gene DOID:0070449 mitochondrial DNA depletion syndrome 18 ISO RGD:1350119 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 18 PMID:25741868|PMID:28492532|PMID:31028354 8748452 Slc25a21 solute carrier family 25 member 21 gene DOID:12859 choreatic disease ISO RGD:1350119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 8748452 Slc25a21 solute carrier family 25 member 21 gene DOID:13714 anodontia ISO RGD:1350119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:11827258|PMID:28492532 8748452 Slc25a21 solute carrier family 25 member 21 gene DOID:630 genetic disease ISO RGD:1350119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8748452 Slc25a21 solute carrier family 25 member 21 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8748452 Slc25a21 solute carrier family 25 member 21 gene DOID:9007839 Selective Tooth Agenesis 3 ISO RGD:1350119 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 3 PMID:11941488 8748469 Ccdc141 coiled-coil domain containing 141 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8748469 Ccdc141 coiled-coil domain containing 141 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 8748469 Ccdc141 coiled-coil domain containing 141 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1606113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532|PMID:30557390 8748469 Ccdc141 coiled-coil domain containing 141 gene DOID:1921 Klinefelter syndrome ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8748469 Ccdc141 coiled-coil domain containing 141 gene DOID:1923 disorder of sexual development ISO RGD:1606113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8748469 Ccdc141 coiled-coil domain containing 141 gene DOID:630 genetic disease ISO RGD:1606113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8748498 Susd3 sushi domain containing 3 gene DOID:630 genetic disease ISO RGD:1322117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748513 Chmp4c charged multivesicular body protein 4C gene DOID:630 genetic disease ISO RGD:1606751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748513 Chmp4c charged multivesicular body protein 4C gene DOID:9002762 Ovarian Neoplasms ISO RGD:1606751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535730|PMID:31043753 8748540 Dnaaf9 dynein axonemal assembly factor 9 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1349038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8748540 Dnaaf9 dynein axonemal assembly factor 9 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1349038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8748540 Dnaaf9 dynein axonemal assembly factor 9 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1349038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8748612 Cep170 centrosomal protein 170 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605104 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8748612 Cep170 centrosomal protein 170 gene DOID:1540 parathyroid carcinoma ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8748612 Cep170 centrosomal protein 170 gene DOID:630 genetic disease ISO RGD:1605104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748612 Cep170 centrosomal protein 170 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1605104 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 8748612 Cep170 centrosomal protein 170 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:20835237|PMID:22190896|PMID:28492532 8748612 Cep170 centrosomal protein 170 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8748612 Cep170 centrosomal protein 170 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8748668 Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:0070008 Seckel syndrome 10 ISO RGD:1606915 D RGD:7240710 20190315 OMIM 8748668 Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:0070008 Seckel syndrome 10 ISO RGD:1606915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 10 PMID:25105364|PMID:25741868|PMID:26443207|PMID:28492532 8748668 Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1606915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:28492532 8748668 Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8748668 Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:2717 Bloom syndrome ISO RGD:1331905 D RGD:9068941 20220825 MouseDO OMIM:210900 8748668 Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:630 genetic disease ISO RGD:1606915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8748668 Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase gene DOID:9008086 Developmental Disabilities ISO RGD:1606915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1605000 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10742096|PMID:11805166|PMID:12464671|PMID:12707396|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15015071|PMID:15253708|PMID:15327385|PMID:15496146|PMID:15769810|PMID:15817495|PMID:16354237|PMID:16898497|PMID:17371932|PMID:17576681|PMID:17699384|PMID:17899208|PMID:18216321|PMID:18443213|PMID:18709391|PMID:18823551|PMID:19145239|PMID:19406966|PMID:19876656|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:22565185|PMID:22578956|PMID:22763815|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:24033266|PMID:24227627|PMID:24413855|PMID:24509478|PMID:24742477|PMID:24856380|PMID:25349199|PMID:25525159|PMID:25720465|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26594346|PMID:26668027|PMID:28476686|PMID:28492532|PMID:28658201|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:30013592|PMID:30260545|PMID:30295827|PMID:30348286|PMID:30406062|PMID:30450462|PMID:30655312|PMID:31027891|PMID:31308032|PMID:32581362|PMID:32604935|PMID:33102883|PMID:33305316|PMID:33532864|PMID:36167728|PMID:8589695|PMID:9536098 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1605000 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome PMID:11805166|PMID:12464671|PMID:12707396|PMID:14978175|PMID:15253708|PMID:15769810|PMID:15817495|PMID:16354237|PMID:16898497|PMID:17699384|PMID:18823551|PMID:19145239|PMID:19876656|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:23349334|PMID:23515051|PMID:23645318|PMID:24227627|PMID:24509478|PMID:25349199|PMID:25720465|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28658201|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:30013592|PMID:32604935 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1605000 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Idiopathic nephrotic syndrome PMID:11805166|PMID:12464671|PMID:12707396|PMID:14978175|PMID:15253708|PMID:15769810|PMID:15817495|PMID:16354237|PMID:16898497|PMID:17699384|PMID:18823551|PMID:19145239|PMID:19876656|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:23349334|PMID:23515051|PMID:23645318|PMID:24227627|PMID:24509478|PMID:25349199|PMID:25720465|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28658201|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:30013592|PMID:30348286|PMID:32604935|PMID:33102883|PMID:33305316 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:1184 nephrotic syndrome ISO RGD:1605000 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome PMID:10742096|PMID:11805166|PMID:12464671|PMID:12707396|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19406966|PMID:20798252|PMID:20947785|PMID:21355056|PMID:22763815|PMID:23515051|PMID:23645318|PMID:24509478|PMID:24742477|PMID:25349199|PMID:25741868|PMID:26413278|PMID:26467025|PMID:27193387|PMID:28492532|PMID:28780565|PMID:29127259|PMID:29382718|PMID:29644057|PMID:29660491|PMID:30260545|PMID:30280213|PMID:30655312|PMID:32581362|PMID:33102883|PMID:8589695 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:2590 familial nephrotic syndrome ISO RGD:1605000 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Hereditary nephrotic syndrome PMID:25741868|PMID:28492532 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:557 kidney disease ISO RGD:1605000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:576 proteinuria ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteinuria 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:630 genetic disease ISO RGD:1605000 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10742096|PMID:11805166|PMID:12464671|PMID:12707396|PMID:14675423|PMID:14978175|PMID:15327385|PMID:15496146|PMID:15769810|PMID:15817495|PMID:18823551|PMID:19145239|PMID:20798252|PMID:23515051|PMID:23645318|PMID:24509478|PMID:25349199|PMID:25741868|PMID:26413278|PMID:26668027|PMID:28476686|PMID:28492532|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:30260545|PMID:31027891|PMID:31308032|PMID:33102883|PMID:36167728|PMID:8589695 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:784 chronic kidney disease ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8748680 Axdnd1 axonemal dynein light chain domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8748736 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:0110591 autosomal dominant nonsyndromic deafness 7 ISO RGD:1312426 D RGD:7240710 20200226 OMIM 8748736 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:0110591 autosomal dominant nonsyndromic deafness 7 ISO RGD:1312426 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 7 PMID:25741868|PMID:29754270|PMID:32840933|PMID:35711095|PMID:36140227 8748736 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1312426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:29971487 8748736 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1312426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8748736 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:5419 schizophrenia ISO RGD:1312426 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8748736 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:630 genetic disease ISO RGD:1312426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748736 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:9004538 Hearing Loss ISO RGD:1312426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29971487 8748736 Lmx1a LIM homeobox transcription factor 1 alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8748754 Fam217b family with sequence similarity 217 member B gene DOID:630 genetic disease ISO RGD:1323673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748761 Patz1 POZ/BTB and AT hook containing zinc finger 1 gene DOID:3070 high grade glioma ISO RGD:1318048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8748761 Patz1 POZ/BTB and AT hook containing zinc finger 1 gene DOID:630 genetic disease ISO RGD:1318048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748780 Ctps2 CTP synthase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8748780 Ctps2 CTP synthase 2 gene DOID:12849 autistic disorder ISO RGD:1602693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8748780 Ctps2 CTP synthase 2 gene DOID:630 genetic disease ISO RGD:1602693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748780 Ctps2 CTP synthase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8748780 Ctps2 CTP synthase 2 gene DOID:9256 colorectal cancer resistance ISO RGD:1602693 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:21378502|REF_RGD_ID:5132879 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:0050860 colorectal adenoma ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:21122381|PMID:23082052|REF_RGD_ID:13217408|REF_RGD_ID:13217413 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:621506 D RGD:9068941 20210827 RGD protein:increased phosphorylation:adipose tissue, liver (rat) PMID:27909723|REF_RGD_ID:150340686 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:621506 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:24404139|REF_RGD_ID:13506784 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:0080855 Parkinsonism treatment ISO RGD:621506 D RGD:9068941 20240203 RGD PMID:20581854|REF_RGD_ID:401965387 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:732271 D RGD:9068941 20200609 RGD protein:increased expression:brain,CA1 field of hippocampus: PMID:11208906|REF_RGD_ID:10412676 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:10763 hypertension ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:15302844|REF_RGD_ID:1582315 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:23341606|REF_RGD_ID:10412675 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:11168 anogenital venereal wart treatment ISO RGD:732271 D RGD:9068941 20210827 RGD mRNA:increased expression:zone of skin (human) PMID:25774455|REF_RGD_ID:36174028 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:11372 megacolon ISO RGD:732271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:12098 trigeminal neuralgia ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:12205 dengue disease ISO RGD:732272 D RGD:9068941 20210827 RGD protein:increased phosphorylation:liver (mouse) PMID:28188818|REF_RGD_ID:150340680 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:13619 extrahepatic cholestasis ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:1508 candidiasis ameliorates ISO RGD:732272 D RGD:9068941 20210827 RGD PMID:28112734|REF_RGD_ID:150340684 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:1574 alcohol use disorder ISO RGD:621506 D RGD:9068941 20240125 RGD PMID:31262967|REF_RGD_ID:401959334 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:1984 rectal benign neoplasm ISO RGD:732271 D RGD:9068941 20200609 RGD DNA:SNP: :rs10508901 (human) PMID:22199996|REF_RGD_ID:13217410 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:1984 rectal benign neoplasm ISO RGD:732271 D RGD:9068941 20200609 RGD DNA:SNP: :rs10857561 (human) PMID:23027623|REF_RGD_ID:13217411 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:732271 D RGD:9068941 20210827 RGD associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human) PMID:31784499|REF_RGD_ID:150340677 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:2237 hepatitis ISO RGD:732272 D RGD:9068941 20220811 RGD PMID:25173965|REF_RGD_ID:153305943 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:2316 brain ischemia ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:15797868|REF_RGD_ID:1582325 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:289 endometriosis ISO RGD:732271 D RGD:9068941 20210827 RGD mRNA:increased expression:peritoneum (human) PMID:25207642|REF_RGD_ID:150340690 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732272 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:20699612|REF_RGD_ID:5490968 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:3310 atopic dermatitis ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24046278 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:732272 D RGD:9068941 20200609 RGD protein:increased phosphorylation:pancreas (mouse) PMID:23237571|REF_RGD_ID:14348975 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:28837246|REF_RGD_ID:14348974 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:3944 Arenaviridae infectious disease ISO RGD:732272 D RGD:9068941 20210827 RGD PMID:11927625|REF_RGD_ID:150340679 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:732271 D RGD:9068941 20210827 RGD protein:increased phosphorylation:pancreas (human) PMID:24395444|REF_RGD_ID:150340683 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:5419 schizophrenia ISO RGD:732271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:5844 myocardial infarction ameliorates ISO RGD:621506 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:732271 D RGD:9068941 20210827 RGD protein:decreased phosphorylation:liver (human) PMID:33875785|REF_RGD_ID:150340688 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:7693 abdominal aortic aneurysm ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:16311603|REF_RGD_ID:1582313 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:7693 abdominal aortic aneurysm ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:16311603|REF_RGD_ID:1582313 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:874 bacterial pneumonia severity ISO RGD:732272 D RGD:9068941 20210827 RGD associated with Escherichia Coli Infections PMID:22514650|REF_RGD_ID:150340681 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18593901 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9000371 influenza A ameliorates ISO RGD:732272 D RGD:9068941 20210827 RGD PMID:22514650|REF_RGD_ID:150340681 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9000955 Acute Otitis Media ISO RGD:732272 D RGD:9068941 20210827 RGD mRNA:decreased expression:middle ear (mouse) PMID:21307808|REF_RGD_ID:150340689 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002137 Infectious Ectromelia exacerbates ISO RGD:732272 D RGD:9068941 20210827 RGD PMID:24673683|REF_RGD_ID:150340678 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:621506 D RGD:9068941 20200609 RGD protein:increased activity:liver: PMID:11679968|REF_RGD_ID:10412680 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002211 Hyperalgesia ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002245 Intestinal Neoplasms ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:17591974|REF_RGD_ID:13217412 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002245 Intestinal Neoplasms treatment ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:23327547|REF_RGD_ID:13217409 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:19433784|REF_RGD_ID:10412674 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002928 Colonic Neoplasms ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:17591974|REF_RGD_ID:13217412 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:732271 D RGD:9068941 20200609 RGD PMID:18460448|REF_RGD_ID:13217414 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9003936 Cardiomegaly ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:12668503|REF_RGD_ID:1582316 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9004009 Reperfusion Injury ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:16699462|REF_RGD_ID:1582310 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9004009 Reperfusion Injury ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20302854 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9004484 Sepsis treatment ISO RGD:621506 D RGD:9068941 20210827 RGD PMID:14662889|REF_RGD_ID:126928138 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9004590 Acute Liver Failure ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17185352 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9005930 Endotoxemia ISO RGD:621506 D RGD:9068941 20210827 RGD protein:increased phophorylation:hippocampus (rat) PMID:12207162|REF_RGD_ID:150340687 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9006205 Animal Disease Models ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9007096 Stroke ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:10773432|REF_RGD_ID:1582317 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9007417 Pseudomonas Infections ameliorates ISO RGD:732272 D RGD:9068941 20210827 RGD associated with Pneumonia, Ventilator-Associated PMID:27506464|REF_RGD_ID:150340682 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21726611 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621506 D RGD:9068941 20200609 RGD PMID:12883833|PMID:15309413|REF_RGD_ID:1582311|REF_RGD_ID:1582312 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621506 D RGD:9068941 20220923 RGD PMID:31583047|REF_RGD_ID:155230831 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9008114 Helicobacter Infections ISO RGD:732271 D RGD:9068941 20210827 RGD protein:increased expression:pyloric antrum (human) PMID:17643099|REF_RGD_ID:150340691 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621506 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732271 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 8748803 Mapk8 mitogen-activated protein kinase 8 gene DOID:9452 steatotic liver disease ISO RGD:732272 D RGD:9068941 20200609 RGD PMID:21540183|REF_RGD_ID:9585751 8748846 Kat6a lysine acetyltransferase 6A gene DOID:0050888 syndromic intellectual disability ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25728777 8748846 Kat6a lysine acetyltransferase 6A gene DOID:0050902 medulloblastoma ISO RGD:1312590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8748846 Kat6a lysine acetyltransferase 6A gene DOID:0060041 autism spectrum disorder ISO RGD:1312590 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532|PMID:30504930 8748846 Kat6a lysine acetyltransferase 6A gene DOID:0070062 Arboleda-Tham syndrome ISO RGD:1312590 D RGD:7240710 20180130 OMIM 8748846 Kat6a lysine acetyltransferase 6A gene DOID:0070062 Arboleda-Tham syndrome ISO RGD:1312590 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition PMID:17374998|PMID:23431171|PMID:25728775|PMID:25728777|PMID:25741868|PMID:26938784|PMID:27133397|PMID:28492532|PMID:30245513|PMID:31292255|PMID:32041641|PMID:33318932|PMID:34748993|PMID:35892268 8748846 Kat6a lysine acetyltransferase 6A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1312590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8748846 Kat6a lysine acetyltransferase 6A gene DOID:0090039 torsion dystonia 6 ISO RGD:1312590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 8748846 Kat6a lysine acetyltransferase 6A gene DOID:0111959 immunodeficiency 15B ISO RGD:1312590 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8748846 Kat6a lysine acetyltransferase 6A gene DOID:1059 intellectual disability ISO RGD:1312590 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30245513|PMID:34748993 8748846 Kat6a lysine acetyltransferase 6A gene DOID:11198 DiGeorge syndrome ISO RGD:1312591 D RGD:9068941 20200609 RGD PMID:22921202|REF_RGD_ID:9590333 8748846 Kat6a lysine acetyltransferase 6A gene DOID:11198 DiGeorge syndrome ISO RGD:1312591 D RGD:9068941 20220825 MouseDO OMIM:188400 8748846 Kat6a lysine acetyltransferase 6A gene DOID:630 genetic disease ISO RGD:1312590 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28135719|PMID:28492532|PMID:30245513|PMID:32041641|PMID:35892268 8748846 Kat6a lysine acetyltransferase 6A gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1304892 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:17083329|REF_RGD_ID:2312274 8748846 Kat6a lysine acetyltransferase 6A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8748846 Kat6a lysine acetyltransferase 6A gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1312590 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 8748846 Kat6a lysine acetyltransferase 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8748846 Kat6a lysine acetyltransferase 6A gene DOID:9008086 Developmental Disabilities ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8748846 Kat6a lysine acetyltransferase 6A gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1312590 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:30245513|PMID:31292255 8748846 Kat6a lysine acetyltransferase 6A gene DOID:9008939 Breast Neoplasms severity ISO RGD:1312590 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:25220592|REF_RGD_ID:9590335 8748846 Kat6a lysine acetyltransferase 6A gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1312590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8748846 Kat6a lysine acetyltransferase 6A gene DOID:9119 acute myeloid leukemia ISO RGD:1312590 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:translocation:exon PMID:12676584|REF_RGD_ID:9590334 8748869 Mcph1 microcephalin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1349111 D RGD:9068941 20200609 RGD mRNA:protein:decreased expression:oral cavity, tissue (human) PMID:23472065|REF_RGD_ID:9589036 8748869 Mcph1 microcephalin 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1349111 D RGD:7240710 20180130 OMIM 8748869 Mcph1 microcephalin 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1349111 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:11857108|PMID:12046007|PMID:15199523|PMID:16199547|PMID:16311745|PMID:16783362|PMID:18414213|PMID:20101680|PMID:20301772|PMID:20949544|PMID:20978018|PMID:22139841|PMID:22154951|PMID:22908299|PMID:23281133|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:32714618|PMID:33094427|PMID:34402213|PMID:7693575 8748869 Mcph1 microcephalin 1 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:25741868|PMID:28492532 8748869 Mcph1 microcephalin 1 gene DOID:1059 intellectual disability ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20949544|PMID:25741868|PMID:26467025|PMID:28492532 8748869 Mcph1 microcephalin 1 gene DOID:10907 microcephaly ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:25741868 8748869 Mcph1 microcephalin 1 gene DOID:10907 microcephaly no_association ISO RGD:1349111 D RGD:9068941 20200609 RGD DNA:SNP: :c.940G>C (g.37995G>C) (human) PMID:19267414|REF_RGD_ID:13204744 8748869 Mcph1 microcephalin 1 gene DOID:1380 endometrial cancer ISO RGD:1349111 D RGD:9068941 20200609 RGD DNA:deletions:exons:multiple (human) PMID:20638839|REF_RGD_ID:9589018 8748869 Mcph1 microcephalin 1 gene DOID:1612 breast cancer severity ISO RGD:1349111 D RGD:9068941 20200609 RGD DNA:silent mutation, missense mutation:cds:p.S742, p.A761V (rs2912010, rs1057090) (human) PMID:23296058|REF_RGD_ID:9589038 8748869 Mcph1 microcephalin 1 gene DOID:4451 renal carcinoma ISO RGD:1349111 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (human) PMID:25197360|REF_RGD_ID:9589037 8748869 Mcph1 microcephalin 1 gene DOID:630 genetic disease ISO RGD:1349111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 8748869 Mcph1 microcephalin 1 gene DOID:9000037 Lymphatic Malformation 10 ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 10 PMID:32908006 8748869 Mcph1 microcephalin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1349111 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary (human) PMID:16872911|REF_RGD_ID:9589035 8748869 Mcph1 microcephalin 1 gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:1349111 D RGD:9068941 20200609 RGD protein:decreased expression:ovary, nucleus PMID:24830737|REF_RGD_ID:13204746 8748869 Mcph1 microcephalin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8748869 Mcph1 microcephalin 1 gene DOID:9007661 Dwarfism ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 8748869 Mcph1 microcephalin 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 8748869 Mcph1 microcephalin 1 gene DOID:9008939 Breast Neoplasms severity ISO RGD:1349111 D RGD:9068941 20200609 RGD protein:decreased expression:breast (human) PMID:20632086|REF_RGD_ID:9589027 8748895 Hs3st1 heparan sulfate-glucosamine 3-sulfotransferase 1 gene DOID:2349 arteriosclerosis ISO RGD:731446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arteriosclerosis PMID:15266341|PMID:15965027|PMID:16024819|PMID:16410828|PMID:17179217|PMID:17558387|PMID:17568005|PMID:19122651|PMID:19303047|PMID:19858363|PMID:21152010|PMID:22090374|PMID:28126521 8748895 Hs3st1 heparan sulfate-glucosamine 3-sulfotransferase 1 gene DOID:3393 coronary artery disease ISO RGD:731446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:15266341|PMID:15965027|PMID:16024819|PMID:16410828|PMID:17179217|PMID:17558387|PMID:17568005|PMID:19122651|PMID:19303047|PMID:19858363|PMID:21152010|PMID:22090374|PMID:28126521 8748895 Hs3st1 heparan sulfate-glucosamine 3-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:731446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:733116 D RGD:9068941 20220825 RGD mRNA,protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733116 D RGD:9068941 20220826 RGD mRNA, protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:234 colon adenocarcinoma ISO RGD:733116 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:3068 glioblastoma ISO RGD:733116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733116 D RGD:9068941 20220818 RGD protein:increased expression:lung (human) PMID:25375657|REF_RGD_ID:11074609 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2628 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:733116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:733116 D RGD:9068941 20220819 RGD mRNA:increased expression:liver (human) PMID:30086463|PMID:32048611|REF_RGD_ID:153344517|REF_RGD_ID:153344521 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:2628 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15121240|REF_RGD_ID:2293779 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:733116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9006618 Liver Metastasis ISO RGD:733116 D RGD:9068941 20220825 RGD human cells in mouse model PMID:30114390|REF_RGD_ID:153344554 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9009121 lung metastasis ISO RGD:733116 D RGD:9068941 20220825 RGD human cells in mouse model PMID:30326930|REF_RGD_ID:153344557 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9256 colorectal cancer ISO RGD:733116 D RGD:9068941 20220825 RGD MRNA, protein:increased expression:colon (human) PMID:35034245|REF_RGD_ID:153344553 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9256 colorectal cancer ISO RGD:733116 D RGD:9068941 20220825 RGD mRNA:increased expression:colon (human) PMID:30114390|REF_RGD_ID:153344554 8748904 Fosl2 FOS like 2, AP-1 transcription factor subunit gene DOID:9261 nasopharynx carcinoma ISO RGD:733116 D RGD:9068941 20220825 RGD mRNA:increased expression:nasopharynx (human) PMID:30326930|REF_RGD_ID:153344557 8748923 Itgb4 integrin subunit beta 4 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:733257 D RGD:7240710 20180130 OMIM 8748923 Itgb4 integrin subunit beta 4 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:733257 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:10484780|PMID:11251584|PMID:11328943|PMID:11886501|PMID:12485428|PMID:16199547|PMID:16473856|PMID:17576681|PMID:18348258|PMID:18955862|PMID:20301304|PMID:20301336|PMID:22674212|PMID:23013259|PMID:23496044|PMID:24033266|PMID:25741868|PMID:26739954|PMID:28492532|PMID:33274474|PMID:35432467|PMID:6177243|PMID:7545057|PMID:9536098|PMID:9546354|PMID:9674902|PMID:9792864|PMID:9892956 8748923 Itgb4 integrin subunit beta 4 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:733257 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:25741868|PMID:28492532 8748923 Itgb4 integrin subunit beta 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8748923 Itgb4 integrin subunit beta 4 gene DOID:1184 nephrotic syndrome ISO RGD:733257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532 8748923 Itgb4 integrin subunit beta 4 gene DOID:14695 galactokinase deficiency ISO RGD:733257 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deficiency of galactokinase PMID:10790206|PMID:11328943|PMID:16199547|PMID:16473856|PMID:25741868|PMID:28492532 8748923 Itgb4 integrin subunit beta 4 gene DOID:2121 ectodermal dysplasia ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348258 8748923 Itgb4 integrin subunit beta 4 gene DOID:2661 myoepithelioma ISO RGD:733257 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8748923 Itgb4 integrin subunit beta 4 gene DOID:2730 epidermolysis bullosa ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348258 8748923 Itgb4 integrin subunit beta 4 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7545057 8748923 Itgb4 integrin subunit beta 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27107458 8748923 Itgb4 integrin subunit beta 4 gene DOID:630 genetic disease ISO RGD:733257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8748923 Itgb4 integrin subunit beta 4 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:733257 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:25741868|PMID:28492532 8748923 Itgb4 integrin subunit beta 4 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8748923 Itgb4 integrin subunit beta 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8748923 Itgb4 integrin subunit beta 4 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:733257 D RGD:7240710 20220608 OMIM 8748923 Itgb4 integrin subunit beta 4 gene DOID:9003431 Junctional Epidermolysis Bullosa 5A, Intermediate ISO RGD:733257 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate PMID:10792571|PMID:11328943|PMID:12485428|PMID:16199547|PMID:16473856|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9546354|PMID:9892956 8748923 Itgb4 integrin subunit beta 4 gene DOID:9007402 Gliosis ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 8748923 Itgb4 integrin subunit beta 4 gene DOID:9007499 Pyloric Atresia ISO RGD:733257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348258|PMID:7545057 8748975 Rab11fip1 RAB11 family interacting protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1347457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8748975 Rab11fip1 RAB11 family interacting protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1347457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8748975 Rab11fip1 RAB11 family interacting protein 1 gene DOID:607 paraplegia ISO RGD:1347457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8748975 Rab11fip1 RAB11 family interacting protein 1 gene DOID:630 genetic disease ISO RGD:1347457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28135719|PMID:28492532|PMID:30343943|PMID:31785789|PMID:32695065|PMID:33776624|PMID:35937981 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0060239 Van der Woude syndrome ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28135719|PMID:28492532|PMID:30343943|PMID:31785789|PMID:32695065|PMID:33776624|PMID:35937981 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0112205 developmental and epileptic encephalopathy 69 ISO RGD:733702 D RGD:7240710 20190315 OMIM 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:0112205 developmental and epileptic encephalopathy 69 ISO RGD:733702 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 69 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 PMID:16199547|PMID:17660294|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:34702355|PMID:34906502|PMID:35937981 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:1059 intellectual disability ISO RGD:733702 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868|PMID:28492532 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:1540 parathyroid carcinoma ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:733702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:4195 hyperglycemia ISO RGD:733703 D RGD:9068941 20200609 RGD PMID:11735114|REF_RGD_ID:734670 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:630 genetic disease ISO RGD:733702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17660294|PMID:23934111|PMID:25741868|PMID:26680202|PMID:28492532|PMID:30343943|PMID:32695065|PMID:33776624|PMID:35937981 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:9006462 Coma ISO RGD:733702 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Episodic coma PMID:28492532 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8748986 Cacna1e calcium voltage-gated channel subunit alpha1 E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8749048 Sh2b1 SH2B adaptor protein 1 gene DOID:0050692 Brody myopathy ISO RGD:1603671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:17882224|PMID:24707176|PMID:28492532 8749048 Sh2b1 SH2B adaptor protein 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb ISO RGD:1603671 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome PMID:25741868|PMID:28492532|PMID:29631267|PMID:31439647 8749048 Sh2b1 SH2B adaptor protein 1 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1603671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 8749048 Sh2b1 SH2B adaptor protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8749048 Sh2b1 SH2B adaptor protein 1 gene DOID:5419 schizophrenia ISO RGD:1603671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8749048 Sh2b1 SH2B adaptor protein 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1603671 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532|PMID:29631267|PMID:31439647 8749048 Sh2b1 SH2B adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1603671 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8749048 Sh2b1 SH2B adaptor protein 1 gene DOID:9970 obesity ISO RGD:1603671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 8749082 Allc allantoicase gene DOID:630 genetic disease ISO RGD:736731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749103 Kdm3a lysine demethylase 3A gene DOID:10283 prostate cancer ISO RGD:1346048 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:22120715|REF_RGD_ID:9586733 8749103 Kdm3a lysine demethylase 3A gene DOID:10283 prostate cancer ISO RGD:1346048 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:20127736|REF_RGD_ID:9587486 8749103 Kdm3a lysine demethylase 3A gene DOID:219 colon cancer severity ISO RGD:1346048 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:19858293|REF_RGD_ID:9590225 8749103 Kdm3a lysine demethylase 3A gene DOID:3369 Ewing sarcoma ISO RGD:1346048 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:24362521|REF_RGD_ID:9590218 8749103 Kdm3a lysine demethylase 3A gene DOID:4362 cervical cancer severity ISO RGD:1346048 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23492365|REF_RGD_ID:9590219 8749103 Kdm3a lysine demethylase 3A gene DOID:630 genetic disease ISO RGD:1346048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749103 Kdm3a lysine demethylase 3A gene DOID:684 hepatocellular carcinoma ISO RGD:1346048 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:21607773|REF_RGD_ID:9590222 8749103 Kdm3a lysine demethylase 3A gene DOID:9002669 Hypoxia ISO RGD:708351 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple (rat) PMID:18538129|REF_RGD_ID:9586363 8749103 Kdm3a lysine demethylase 3A gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1346048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 8749103 Kdm3a lysine demethylase 3A gene DOID:9261 nasopharynx carcinoma severity ISO RGD:1346048 D RGD:9068941 20200609 RGD protein:decreased expression:nasopharyngeal epithelium (human) PMID:21541331|REF_RGD_ID:9590228 8749103 Kdm3a lysine demethylase 3A gene DOID:9970 obesity ISO RGD:737255 D RGD:9068941 20200609 RGD PMID:19875498|REF_RGD_ID:9590220 8749103 Kdm3a lysine demethylase 3A gene DOID:9970 obesity ISO RGD:737255 D RGD:9068941 20220825 MouseDO OMIM:601665 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0050902 medulloblastoma ISO RGD:1316868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316868 D RGD:7240710 20190320 OMIM 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316868 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: EHMT1-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16199547|PMID:16826528|PMID:17576681|PMID:18414213|PMID:19264732|PMID:20945554|PMID:21538692|PMID:22318994|PMID:22670141|PMID:22890305|PMID:23232695|PMID:24088041|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26633542|PMID:26633545|PMID:26833960|PMID:27651234|PMID:27891178|PMID:28057753|PMID:28166811|PMID:28492532|PMID:28512736|PMID:29276005|PMID:29416845|PMID:29758562|PMID:30370152|PMID:30525188|PMID:30982612|PMID:31209758|PMID:31623504|PMID:31785789|PMID:32335911|PMID:32860008|PMID:33767182|PMID:33834462|PMID:9536098 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316868 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316868 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0080597 Kleefstra syndrome ISO RGD:1316868 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome PMID:25741868 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1316868 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1316868 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:1826 epilepsy ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316868 D RGD:9068941 20200609 RGD protein:increased expression:esophagus mucosa: PMID:24805087|REF_RGD_ID:9590071 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1316868 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:24649311|REF_RGD_ID:9589143 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1316868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1316868 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15805155|PMID:16826528|PMID:17576681|PMID:18264113|PMID:18414213|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28057753|PMID:28492532|PMID:32277047|PMID:36250449|PMID:9536098 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316868 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16826528|PMID:19264732|PMID:25741868|PMID:28492532 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316868 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:32277047|PMID:36250449 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316868 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16199547|PMID:16826528|PMID:19264732|PMID:23232695|PMID:25741868|PMID:28492532|PMID:30370152|PMID:31623504 8749136 Ehmt1 euchromatic histone lysine methyltransferase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316868 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:32889036 8749193 Hdac7 histone deacetylase 7 gene DOID:12858 Huntington's disease ISO RGD:1552552 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:21118817|REF_RGD_ID:9681718 8749193 Hdac7 histone deacetylase 7 gene DOID:630 genetic disease ISO RGD:1349346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749193 Hdac7 histone deacetylase 7 gene DOID:9256 colorectal cancer ISO RGD:1349346 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 8749193 Hdac7 histone deacetylase 7 gene DOID:986 alopecia areata ISO RGD:1349346 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 8749266 Rnf125 ring finger protein 125 gene DOID:1059 intellectual disability ISO RGD:1315557 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8749266 Rnf125 ring finger protein 125 gene DOID:630 genetic disease ISO RGD:1315557 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8749266 Rnf125 ring finger protein 125 gene DOID:9000905 Tenorio Syndrome ISO RGD:1315557 D RGD:7240710 20180130 OMIM 8749266 Rnf125 ring finger protein 125 gene DOID:9000905 Tenorio Syndrome ISO RGD:1315557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome PMID:25196541|PMID:25741868|PMID:28492532|PMID:34196401 8749281 Ldb3 LIM domain binding 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:20474083|PMID:23861362|PMID:24033266|PMID:25179549|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666 8749281 Ldb3 LIM domain binding 3 gene DOID:0050700 cardiomyopathy ISO RGD:1351488 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11696561|PMID:14662268|PMID:15668942|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26350513|PMID:26467025|PMID:27005929|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:28798025|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31568572|PMID:31737537|PMID:32721234|PMID:32880476|PMID:33297573|PMID:33500567|PMID:33552729|PMID:33742095|PMID:34935411|PMID:4855680|PMID:9536098 8749281 Ldb3 LIM domain binding 3 gene DOID:0050700 cardiomyopathy ISO RGD:1351488 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11696561|PMID:14662268|PMID:15668942|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:21952291|PMID:22337857|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26350513|PMID:26467025|PMID:27005929|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:28798025|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31568572|PMID:31737537|PMID:32721234|PMID:32880476|PMID:33297573|PMID:33500567|PMID:33552729|PMID:33742095|PMID:34935411|PMID:35087879|PMID:4855680|PMID:9536098 8749281 Ldb3 LIM domain binding 3 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:16287957|PMID:16685657|PMID:18510548|PMID:23399955|PMID:28492532 8749281 Ldb3 LIM domain binding 3 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1557802 D RGD:9068941 20220825 MouseDO OMIM:601419 8749281 Ldb3 LIM domain binding 3 gene DOID:0080095 myofibrillar myopathy 4 ISO RGD:1351488 D RGD:7240710 20180130 OMIM 8749281 Ldb3 LIM domain binding 3 gene DOID:0080095 myofibrillar myopathy 4 ISO RGD:1351488 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:11696561|PMID:14660611|PMID:14662268|PMID:15668942|PMID:16199547|PMID:16427346|PMID:16476425|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17394203|PMID:17438622|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:19472918|PMID:20301672|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21520333|PMID:21676617|PMID:21952291|PMID:22337857|PMID:22349865|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23263837|PMID:23299917|PMID:23396983|PMID:23558691|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:24730657|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383259|PMID:26419279|PMID:26467025|PMID:26636822|PMID:26886200|PMID:27005929|PMID:27135274|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28704380|PMID:28798025|PMID:28821295|PMID:29032884|PMID:29247119|PMID:29517769|PMID:29773157|PMID:29892087|PMID:29970176|PMID:30021846|PMID:30026549|PMID:30471092|PMID:30665703|PMID:30775854|PMID:30847666|PMID:31024045|PMID:31078652|PMID:31127727|PMID:31333075|PMID:31376648|PMID:31471687|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32183154|PMID:32721234|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33297573|PMID:33308939|PMID:33500567|PMID:33552729|PMID:33742095|PMID:33815637|PMID:34045587|PMID:34088380|PMID:34691145|PMID:34935411|PMID:35087879|PMID:35284542|PMID:36178741|PMID:36253531|PMID:36452351|PMID:4855680|PMID:9536098 8749281 Ldb3 LIM domain binding 3 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1351488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 8749281 Ldb3 LIM domain binding 3 gene DOID:0080307 myofibrillar myopathy ISO RGD:1351488 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:15668942|PMID:17337483|PMID:17576681|PMID:18765652|PMID:19377068|PMID:21676617|PMID:23861362|PMID:24033266|PMID:24647531|PMID:24668811|PMID:25208129|PMID:25741868|PMID:26467025|PMID:27618136|PMID:28349680|PMID:28492532|PMID:33742095|PMID:4855680|PMID:9536098 8749281 Ldb3 LIM domain binding 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351488 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32746448 8749281 Ldb3 LIM domain binding 3 gene DOID:0081337 congenital myopathy ISO RGD:1557802 D RGD:9068941 20230615 MouseDO 8749281 Ldb3 LIM domain binding 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1351488 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666|PMID:32746448 8749281 Ldb3 LIM domain binding 3 gene DOID:0110320 hypertrophic cardiomyopathy 14 ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:25741868 8749281 Ldb3 LIM domain binding 3 gene DOID:0110423 dilated cardiomyopathy 1C ISO RGD:1351488 D RGD:7240710 20180130 OMIM 8749281 Ldb3 LIM domain binding 3 gene DOID:0110423 dilated cardiomyopathy 1C ISO RGD:1351488 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Dilated cardiomyopathy 1C | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 24 | ClinVar Annotator: match by term: LDB3-related condition | ClinVar Annotator: match by term: Left ventricular noncompaction 3 PMID:11696561|PMID:14660611|PMID:14662268|PMID:15668942|PMID:16199547|PMID:16427346|PMID:16476425|PMID:17097056|PMID:17337483|PMID:17576681|PMID:18055494|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:19472918|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23263837|PMID:23299917|PMID:23558691|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:25163546|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27005929|PMID:27135274|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28704380|PMID:28798025|PMID:28821295|PMID:29032884|PMID:29247119|PMID:29773157|PMID:30021846|PMID:30026549|PMID:30665703|PMID:30847666|PMID:31024045|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32721234|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33500567|PMID:33742095|PMID:33815637|PMID:34045587|PMID:34691145|PMID:34935411|PMID:35087879|PMID:35284542|PMID:36253531|PMID:4855680|PMID:9536098 8749281 Ldb3 LIM domain binding 3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1351488 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:20474083|PMID:20852297|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31737537|PMID:33500567|PMID:34935411|PMID:35087879 8749281 Ldb3 LIM domain binding 3 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1351488 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:20474083|PMID:20852297|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31737537|PMID:33500567|PMID:34935411|PMID:35087879 8749281 Ldb3 LIM domain binding 3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1351488 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15668942|PMID:20474083|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25326637|PMID:25741868|PMID:27005929|PMID:27884173|PMID:27896284|PMID:28349680|PMID:28492532|PMID:30021846|PMID:33029862 8749281 Ldb3 LIM domain binding 3 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1351488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:19377068|PMID:23396983|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532 8749281 Ldb3 LIM domain binding 3 gene DOID:11720 distal myopathy ISO RGD:1351488 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.A165V (human) PMID:17337483|REF_RGD_ID:11068981 8749281 Ldb3 LIM domain binding 3 gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1351488 D RGD:9068941 20200609 RGD mRNA, protein:alternative form:exon PMID:24878509|REF_RGD_ID:12792205 8749281 Ldb3 LIM domain binding 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351488 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17235623|PMID:17394203|PMID:17438622|PMID:20474083|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25041374|PMID:25616123|PMID:25741868|PMID:27532257|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29970176|PMID:31078652 8749281 Ldb3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28166811|PMID:28492532|PMID:29032884|PMID:31078652|PMID:31333075|PMID:31568572 8749281 Ldb3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537 8749281 Ldb3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:19377068|PMID:19412328|PMID:20474083|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:33552729|PMID:34935411 8749281 Ldb3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351488 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14662268|PMID:17097056|PMID:17235623|PMID:17438622|PMID:17576681|PMID:19377068|PMID:19412328|PMID:20474083|PMID:20590677|PMID:20852297|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24503780|PMID:24647531|PMID:25041374|PMID:25163546|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26419279|PMID:26467025|PMID:26636822|PMID:27435932|PMID:27561770|PMID:27896284|PMID:28492532|PMID:29032884|PMID:30847666|PMID:31078652|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:33552729|PMID:34935411|PMID:35087879|PMID:36178741|PMID:9536098 8749281 Ldb3 LIM domain binding 3 gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:1351488 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.D117N (human) PMID:26419279|REF_RGD_ID:11527732 8749281 Ldb3 LIM domain binding 3 gene DOID:2843 long QT syndrome ISO RGD:1351488 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 8749281 Ldb3 LIM domain binding 3 gene DOID:422 congenital structural myopathy ISO RGD:1557802 D RGD:9068941 20200609 RGD PMID:11696561|REF_RGD_ID:1581815 8749281 Ldb3 LIM domain binding 3 gene DOID:440 neuromuscular disease ISO RGD:1351488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:15668942|PMID:17337483|PMID:18765652|PMID:19377068|PMID:21676617|PMID:24033266|PMID:24647531|PMID:24668811|PMID:25208129|PMID:25741868|PMID:26467025|PMID:27618136|PMID:28349680|PMID:28492532|PMID:33742095|PMID:4855680 8749281 Ldb3 LIM domain binding 3 gene DOID:630 genetic disease ISO RGD:1351488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8749281 Ldb3 LIM domain binding 3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1351488 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:17576681|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 8749281 Ldb3 LIM domain binding 3 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium PMID:25741868|PMID:28492532 8749281 Ldb3 LIM domain binding 3 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868 8749281 Ldb3 LIM domain binding 3 gene DOID:9005160 Myofibrillar Myopathy, ZASP-Related ISO RGD:1351488 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, ZASP-related PMID:11696561|PMID:14660611|PMID:14662268|PMID:15668942|PMID:16199547|PMID:16427346|PMID:17097056|PMID:17235623|PMID:17337483|PMID:17394203|PMID:17438622|PMID:17576681|PMID:18765652|PMID:19028670|PMID:19377068|PMID:19412328|PMID:19472918|PMID:20474083|PMID:20590677|PMID:20852297|PMID:21676617|PMID:22337857|PMID:22464770|PMID:22619057|PMID:22929165|PMID:22995991|PMID:23299917|PMID:23396983|PMID:23558691|PMID:23785128|PMID:23861362|PMID:23996002|PMID:24033266|PMID:24503780|PMID:24647531|PMID:24668811|PMID:24730657|PMID:25041374|PMID:25163546|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351510|PMID:25616123|PMID:25617006|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26383259|PMID:26419279|PMID:26467025|PMID:26636822|PMID:26886200|PMID:27005929|PMID:27135274|PMID:27435932|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27662471|PMID:27884173|PMID:27896284|PMID:28082330|PMID:28349680|PMID:28492532|PMID:28518168|PMID:28704380|PMID:28798025|PMID:28821295|PMID:29032884|PMID:29247119|PMID:29517769|PMID:29773157|PMID:29892087|PMID:29970176|PMID:30021846|PMID:30026549|PMID:30665703|PMID:30775854|PMID:30847666|PMID:31024045|PMID:31078652|PMID:31333075|PMID:31376648|PMID:31471687|PMID:31568572|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33029862|PMID:33297573|PMID:33500567|PMID:33552729|PMID:33742095|PMID:33815637|PMID:34935411|PMID:35087879|PMID:35284542|PMID:36178741|PMID:36253531|PMID:4855680|PMID:9536098 8749281 Ldb3 LIM domain binding 3 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1351488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 8749312 Ano9 anoctamin 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8749312 Ano9 anoctamin 9 gene DOID:0111969 immunodeficiency 39 ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8749312 Ano9 anoctamin 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8749312 Ano9 anoctamin 9 gene DOID:10283 prostate cancer ISO RGD:1345920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8749312 Ano9 anoctamin 9 gene DOID:630 genetic disease ISO RGD:1345920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749340 Myo3b myosin IIIB gene DOID:630 genetic disease ISO RGD:1352249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0050424 familial adenomatous polyposis ISO RGD:1350368 D RGD:9068941 20200609 RGD PMID:25307863|REF_RGD_ID:11528847 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0050424 familial adenomatous polyposis ISO RGD:1552237 D RGD:9068941 20200609 RGD PMID:25307863|REF_RGD_ID:11528847 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0050581 brachydactyly ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0050604 acrocapitofemoral dysplasia ISO RGD:1350368 D RGD:7240710 20180130 OMIM 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0050604 acrocapitofemoral dysplasia ISO RGD:1350368 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acrocapitofemoral dysplasia PMID:12624140|PMID:12632327|PMID:25741868|PMID:28492532|PMID:34530144 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0060041 autism spectrum disorder ISO RGD:1350368 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26691363|REF_RGD_ID:11561296 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0060850 annular pancreas ISO RGD:1552237 D RGD:9068941 20220825 MouseDO OMIM:167750 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:7240710 20180130 OMIM 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:1350368 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brachydactyly Farabee type | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar Annotator: match by term: IHH-related condition PMID:11455389|PMID:12384778|PMID:12525541|PMID:12566523|PMID:14043746|PMID:15886999|PMID:16871364|PMID:17486609|PMID:18794898|PMID:19252479|PMID:19277064|PMID:25741868|PMID:28492532|PMID:35846898 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0111816 syndactyly type 1 ISO RGD:1350368 D RGD:9068941 20200609 RGD DNA:duplications PMID:21167467|REF_RGD_ID:12910956 8749377 Ihh Indian hedgehog signaling molecule gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8749377 Ihh Indian hedgehog signaling molecule gene DOID:10487 Hirschsprung's disease ISO RGD:1350368 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8749377 Ihh Indian hedgehog signaling molecule gene DOID:13025 retinopathy of prematurity ISO RGD:1350368 D RGD:9068941 20200609 RGD DNA:SNP PMID:18787502|REF_RGD_ID:12910978 8749377 Ihh Indian hedgehog signaling molecule gene DOID:2602 chondroma ISO RGD:1552237 D RGD:9068941 20200609 RGD PMID:26091072|REF_RGD_ID:12910968 8749377 Ihh Indian hedgehog signaling molecule gene DOID:289 endometriosis ISO RGD:1350368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8749377 Ihh Indian hedgehog signaling molecule gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8749377 Ihh Indian hedgehog signaling molecule gene DOID:5119 ovarian cyst ISO RGD:1350368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8749377 Ihh Indian hedgehog signaling molecule gene DOID:630 genetic disease ISO RGD:1350368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8749377 Ihh Indian hedgehog signaling molecule gene DOID:8398 osteoarthritis ISO RGD:1350368 D RGD:9068941 20200609 RGD protein:increased expression:cartilage PMID:24786088|REF_RGD_ID:12910979 8749377 Ihh Indian hedgehog signaling molecule gene DOID:8398 osteoarthritis ISO RGD:1552237 D RGD:9068941 20200609 RGD PMID:24786088|REF_RGD_ID:12910979 8749377 Ihh Indian hedgehog signaling molecule gene DOID:8398 osteoarthritis ISO RGD:620021 D RGD:9068941 20200609 RGD PMID:24786088|REF_RGD_ID:12910979 8749377 Ihh Indian hedgehog signaling molecule gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:1350368 D RGD:9068941 20200609 RGD PMID:23121638|REF_RGD_ID:12910981 8749377 Ihh Indian hedgehog signaling molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8749377 Ihh Indian hedgehog signaling molecule gene DOID:9005639 Mandibular Fractures ISO RGD:620021 D RGD:9068941 20200609 RGD PMID:23992905|REF_RGD_ID:12911207 8749377 Ihh Indian hedgehog signaling molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8749384 Sec24d SEC24 homolog D, COPII coat complex component gene DOID:0060438 Cole-Carpenter syndrome ISO RGD:1323325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8749384 Sec24d SEC24 homolog D, COPII coat complex component gene DOID:1826 epilepsy ISO RGD:1323325 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 8749384 Sec24d SEC24 homolog D, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1323325 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25683121|PMID:25741868|PMID:28492532|PMID:30462379 8749384 Sec24d SEC24 homolog D, COPII coat complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8749384 Sec24d SEC24 homolog D, COPII coat complex component gene DOID:9004736 Cole-Carpenter Syndrome 2 ISO RGD:1323325 D RGD:7240710 20180130 OMIM 8749384 Sec24d SEC24 homolog D, COPII coat complex component gene DOID:9004736 Cole-Carpenter Syndrome 2 ISO RGD:1323325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 | ClinVar Annotator: match by term: SEC24D-related condition PMID:25683121|PMID:25741868|PMID:26467156|PMID:27942778|PMID:28492532|PMID:30462379 8749420 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8749420 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1605724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8749420 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1605724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8749420 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0070538 syndromic X-linked intellectual developmental disorder Bain type ISO RGD:1605724 D RGD:7240710 20190315 OMIM 8749420 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:0070538 syndromic X-linked intellectual developmental disorder Bain type ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:28492532|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 8749420 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:12849 autistic disorder ISO RGD:1605724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8749420 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605724 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:34008892 8749420 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605724 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy PMID:25741868|PMID:27545675|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778 8749420 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:14499 Fabry disease ISO RGD:1605724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:11889412|PMID:15776423|PMID:17532296|PMID:17555407|PMID:18205205|PMID:20022777|PMID:21598360|PMID:21683120|PMID:23691425|PMID:23913314|PMID:23935525|PMID:24033266|PMID:24386359|PMID:25026990|PMID:25040344|PMID:25382311|PMID:25596309|PMID:25741868|PMID:26563328|PMID:27831900|PMID:27979989|PMID:28492532|PMID:30386727|PMID:30594474|PMID:33204599|PMID:34803097|PMID:7531540 8749420 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:2303 stereotypic movement disorder ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 8749420 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:630 genetic disease ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:28492532|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 8749420 Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605724 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:20308327|PMID:24033266|PMID:25741868|PMID:27545675|PMID:29938792|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:33504798|PMID:33728377|PMID:34008892|PMID:34907471 8749426 Rhou ras homolog family member U gene DOID:1540 parathyroid carcinoma ISO RGD:1347334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8749426 Rhou ras homolog family member U gene DOID:630 genetic disease ISO RGD:1347334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749426 Rhou ras homolog family member U gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8749432 Cnpy4 canopy FGF signaling regulator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8749432 Cnpy4 canopy FGF signaling regulator 4 gene DOID:630 genetic disease ISO RGD:1606674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749432 Cnpy4 canopy FGF signaling regulator 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8749442 Thumpd3 THUMP domain containing 3 gene DOID:0060417 3p deletion syndrome ISO RGD:1348857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:21681106 8749442 Thumpd3 THUMP domain containing 3 gene DOID:2843 long QT syndrome ISO RGD:1348857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8749442 Thumpd3 THUMP domain containing 3 gene DOID:630 genetic disease ISO RGD:1348857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749442 Thumpd3 THUMP domain containing 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1348857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8749459 Mmachc metabolism of cobalamin associated C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8749459 Mmachc metabolism of cobalamin associated C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1601765 D RGD:7240710 20180130 OMIM 8749459 Mmachc metabolism of cobalamin associated C gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1601765 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cobalamin-C methylmalonic acidemia and homocystinuria | ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type | ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase | ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:11261516|PMID:11320193|PMID:14568819|PMID:16199547|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17576681|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19573432|PMID:19700356|PMID:19760748|PMID:19767224|PMID:19836982|PMID:19914430|PMID:20219402|PMID:20549364|PMID:20610126|PMID:20631720|PMID:20652818|PMID:20924684|PMID:21055272|PMID:21114891|PMID:21228398|PMID:21835369|PMID:22447314|PMID:22560872|PMID:22642810|PMID:23241609|PMID:23580368|PMID:23591356|PMID:23754956|PMID:23757202|PMID:23825108|PMID:23837176|PMID:23932106|PMID:23954310|PMID:24033266|PMID:24126030|PMID:24210589|PMID:24577983|PMID:24599607|PMID:24853097|PMID:25388550|PMID:25398587|PMID:25511120|PMID:25668207|PMID:25672861|PMID:25687216|PMID:25689098|PMID:25741868|PMID:25772322|PMID:25809485|PMID:25894566|PMID:26149271|PMID:26253414|PMID:26270766|PMID:26283149|PMID:26287336|PMID:26464686|PMID:26467025|PMID:26563984|PMID:26658511|PMID:26825575|PMID:26979128|PMID:26990548|PMID:27252276|PMID:27383490|PMID:27751223|PMID:28151490|PMID:28218226|PMID:28327205|PMID:28337550|PMID:28454995|PMID:28481040|PMID:28492532|PMID:28693988|PMID:28835862|PMID:29068997|PMID:29294253|PMID:29302025|PMID:29340559|PMID:29379858|PMID:29396438|PMID:29453417|PMID:29581464|PMID:29731766|PMID:30157807|PMID:30197982|PMID:30209273|PMID:30293248|PMID:30863077|PMID:31092259|PMID:31130284|PMID:31137025|PMID:31278756|PMID:31279840|PMID:31470807|PMID:31503356|PMID:31555752|PMID:31574870|PMID:31998365|PMID:32058304|PMID:32071835|PMID:32099815|PMID:32164588|PMID:32439973|PMID:32457044|PMID:32481360|PMID:32943488|PMID:33411215|PMID:33473346|PMID:33515116|PMID:33562640|PMID:33691766|PMID:33726816|PMID:33931066|PMID:33982424|PMID:34102818|PMID:34215320|PMID:34356170|PMID:34389282|PMID:34445196|PMID:35190856|PMID:35193651|PMID:35361390|PMID:36338977|PMID:38387306|PMID:9536098 8749459 Mmachc metabolism of cobalamin associated C gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1601765 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria, mut type PMID:11320193|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:24577983|PMID:25511120|PMID:25687216|PMID:25741868|PMID:25809485|PMID:26149271|PMID:26283149|PMID:26563984|PMID:28218226|PMID:28492532|PMID:28693988|PMID:33515116 8749459 Mmachc metabolism of cobalamin associated C gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1601765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 PMID:16311595|PMID:16714133|PMID:17768669|PMID:17853453|PMID:18164228|PMID:19370762|PMID:19760748|PMID:20549364|PMID:20610126|PMID:20631720|PMID:23757202|PMID:23837176|PMID:24033266|PMID:24126030|PMID:24599607|PMID:25687216|PMID:25741868|PMID:25894566|PMID:26467025|PMID:28492532|PMID:29396438|PMID:31279840 8749459 Mmachc metabolism of cobalamin associated C gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1601765 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16311595|PMID:16714133|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19760748|PMID:20549364|PMID:20610126|PMID:20631720|PMID:23757202|PMID:23837176|PMID:24033266|PMID:24126030|PMID:24599607|PMID:25687216|PMID:25741868|PMID:25894566|PMID:26467025|PMID:28492532|PMID:28835862|PMID:29294253|PMID:29396438|PMID:31137025|PMID:31279840|PMID:32164588|PMID:33562640|PMID:36338977 8749459 Mmachc metabolism of cobalamin associated C gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8749459 Mmachc metabolism of cobalamin associated C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8749459 Mmachc metabolism of cobalamin associated C gene DOID:14749 methylmalonic acidemia ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170 8749459 Mmachc metabolism of cobalamin associated C gene DOID:630 genetic disease ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11261516|PMID:11320193|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19700356|PMID:20219402|PMID:20631720|PMID:21055272|PMID:22560872|PMID:23825108|PMID:23932106|PMID:24126030|PMID:25398587|PMID:25672861|PMID:25687216|PMID:25689098|PMID:25741868|PMID:25809485|PMID:26283149|PMID:26825575|PMID:26990548|PMID:28218226|PMID:28337550|PMID:28492532|PMID:28693988|PMID:30293248|PMID:31555752|PMID:32439973|PMID:34356170|PMID:34445196 8749459 Mmachc metabolism of cobalamin associated C gene DOID:655 inherited metabolic disorder ISO RGD:1601765 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:11261516|PMID:11320193|PMID:14568819|PMID:16311595|PMID:16714133|PMID:17431913|PMID:17768669|PMID:17853453|PMID:18164228|PMID:18245139|PMID:19370762|PMID:19700356|PMID:19760748|PMID:20219402|PMID:20549364|PMID:20610126|PMID:20631720|PMID:20924684|PMID:21055272|PMID:22560872|PMID:22642810|PMID:23757202|PMID:23825108|PMID:23837176|PMID:23932106|PMID:23954310|PMID:24033266|PMID:24126030|PMID:24210589|PMID:24577983|PMID:24599607|PMID:25398587|PMID:25511120|PMID:25668207|PMID:25672861|PMID:25687216|PMID:25689098|PMID:25741868|PMID:25772322|PMID:25809485|PMID:25894566|PMID:26149271|PMID:26283149|PMID:26467025|PMID:26563984|PMID:26825575|PMID:26990548|PMID:27383490|PMID:28218226|PMID:28327205|PMID:28337550|PMID:28492532|PMID:28693988|PMID:28835862|PMID:29294253|PMID:29396438|PMID:30197982|PMID:30293248|PMID:31130284|PMID:31137025|PMID:31279840|PMID:31555752|PMID:32071835|PMID:32164588|PMID:32439973|PMID:32481360|PMID:32943488|PMID:33473346|PMID:33515116|PMID:33562640|PMID:34356170|PMID:34445196|PMID:36338977 8749459 Mmachc metabolism of cobalamin associated C gene DOID:8501 fundus dystrophy ISO RGD:1601765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16311595|PMID:19370762|PMID:24210589|PMID:25398587|PMID:25741868|PMID:28492532|PMID:30197982|PMID:32071835|PMID:32481360|PMID:33473346 8749459 Mmachc metabolism of cobalamin associated C gene DOID:9263 homocystinuria ISO RGD:1601765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:11261516|PMID:16311595|PMID:16714133|PMID:17853453|PMID:18245139|PMID:19370762|PMID:19700356|PMID:25398587|PMID:25672861|PMID:25689098|PMID:25741868|PMID:26825575|PMID:26990548|PMID:28492532|PMID:34356170 8749467 Rpe ribulose-5-phosphate-3-epimerase gene DOID:14557 primary pulmonary hypertension ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8749467 Rpe ribulose-5-phosphate-3-epimerase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8749467 Rpe ribulose-5-phosphate-3-epimerase gene DOID:630 genetic disease ISO RGD:1320609 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749467 Rpe ribulose-5-phosphate-3-epimerase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8749480 Susd1 sushi domain containing 1 gene DOID:630 genetic disease ISO RGD:1315881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749502 Vwde von Willebrand factor D and EGF domains gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2299987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8749502 Vwde von Willebrand factor D and EGF domains gene DOID:630 genetic disease ISO RGD:2299987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749536 Fgf14 fibroblast growth factor 14 gene DOID:0050976 spinocerebellar ataxia type 27 ISO RGD:1343584 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 PMID:12489043|PMID:15470364|PMID:194719761|PMID:21681106|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30017992|PMID:5470364 8749536 Fgf14 fibroblast growth factor 14 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1343584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 8749536 Fgf14 fibroblast growth factor 14 gene DOID:1222 cartilage disease ISO RGD:1343584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11241832 8749536 Fgf14 fibroblast growth factor 14 gene DOID:12849 autistic disorder ISO RGD:1343584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8749536 Fgf14 fibroblast growth factor 14 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1343584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 8749536 Fgf14 fibroblast growth factor 14 gene DOID:14701 propionic acidemia ISO RGD:1343584 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8749536 Fgf14 fibroblast growth factor 14 gene DOID:1561 cognitive disorder ISO RGD:1343584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26089778 8749536 Fgf14 fibroblast growth factor 14 gene DOID:630 genetic disease ISO RGD:1343584 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8749536 Fgf14 fibroblast growth factor 14 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1343584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8749536 Fgf14 fibroblast growth factor 14 gene DOID:9006316 Spinocerebellar Ataxia 27A ISO RGD:1343584 D RGD:7240710 20230104 OMIM 8749536 Fgf14 fibroblast growth factor 14 gene DOID:9006316 Spinocerebellar Ataxia 27A ISO RGD:1343584 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 27A PMID:12489043|PMID:15470364|PMID:17978045|PMID:25566820|PMID:25741868|PMID:30017992|PMID:32162847 8749536 Fgf14 fibroblast growth factor 14 gene DOID:9006713 Spinocerebellar Ataxia 27B ISO RGD:1343584 D RGD:7240710 20230104 OMIM 8749536 Fgf14 fibroblast growth factor 14 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1343584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 8749548 Spata16 spermatogenesis associated 16 gene DOID:0070167 spermatogenic failure 6 ISO RGD:1351808 D RGD:7240710 20180130 OMIM 8749548 Spata16 spermatogenesis associated 16 gene DOID:0070167 spermatogenic failure 6 ISO RGD:1351808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Globozoospermia PMID:17847006|PMID:24265589|PMID:25741868|PMID:28492532|PMID:29065458 8749548 Spata16 spermatogenesis associated 16 gene DOID:0111910 spermatogenic failure ISO RGD:1351808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure 8749548 Spata16 spermatogenesis associated 16 gene DOID:0112312 male infertility due to globozoospermia ISO RGD:1351808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Globozoospermia PMID:17847006|PMID:24265589|PMID:25741868|PMID:28492532|PMID:29065458 8749548 Spata16 spermatogenesis associated 16 gene DOID:1062 Fanconi syndrome ISO RGD:1351808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8749548 Spata16 spermatogenesis associated 16 gene DOID:12336 male infertility ISO RGD:1557391 D RGD:9068941 20220825 MouseDO 8749548 Spata16 spermatogenesis associated 16 gene DOID:630 genetic disease ISO RGD:1351808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749563 Dazl deleted in azoospermia like gene DOID:0060417 3p deletion syndrome ISO RGD:1352695 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8749563 Dazl deleted in azoospermia like gene DOID:630 genetic disease ISO RGD:1352695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749563 Dazl deleted in azoospermia like gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1352695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666240 8749579 Prdx3 peroxiredoxin 3 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1349610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 8749579 Prdx3 peroxiredoxin 3 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1349610 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:25741868|PMID:35792670 8749579 Prdx3 peroxiredoxin 3 gene DOID:0070413 autosomal recessive spinocerebellar ataxia 32 ISO RGD:1349610 D RGD:7240710 20220518 OMIM 8749579 Prdx3 peroxiredoxin 3 gene DOID:0070413 autosomal recessive spinocerebellar ataxia 32 ISO RGD:1349610 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 PMID:25741868|PMID:33889951|PMID:35766882|PMID:35792670 8749579 Prdx3 peroxiredoxin 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1349610 D RGD:9068941 20220310 CTD CTD Direct Evidence: therapeutic PMID:34678374 8749579 Prdx3 peroxiredoxin 3 gene DOID:0080600 COVID-19 ISO RGD:1349610 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8749579 Prdx3 peroxiredoxin 3 gene DOID:10603 glucose intolerance ISO RGD:620040 D RGD:9068941 20200609 RGD associated with obesity; PMID:27523322|REF_RGD_ID:11532750 8749579 Prdx3 peroxiredoxin 3 gene DOID:11476 osteoporosis ISO RGD:1349610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8749579 Prdx3 peroxiredoxin 3 gene DOID:231 motor neuron disease ISO RGD:1349610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16702190 8749579 Prdx3 peroxiredoxin 3 gene DOID:630 genetic disease ISO RGD:1349610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749579 Prdx3 peroxiredoxin 3 gene DOID:9000918 Disease Progression ISO RGD:1349610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 8749579 Prdx3 peroxiredoxin 3 gene DOID:9003361 CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET ISO RGD:1349610 D RGD:7240710 20220615 OMIM 8749579 Prdx3 peroxiredoxin 3 gene DOID:9003361 CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET ISO RGD:1349610 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, punctiform and polychromatic pre-descemet PMID:31782998|PMID:34369396 8749579 Prdx3 peroxiredoxin 3 gene DOID:9007692 Insulin Resistance ISO RGD:620040 D RGD:9068941 20200609 RGD associated with obesity; PMID:27523322|REF_RGD_ID:11532750 8749593 Ncapg non-SMC condensin I complex subunit G gene DOID:0080600 COVID-19 ISO RGD:1605960 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8749593 Ncapg non-SMC condensin I complex subunit G gene DOID:3910 lung adenocarcinoma ISO RGD:1605960 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:34419073 8749593 Ncapg non-SMC condensin I complex subunit G gene DOID:630 genetic disease ISO RGD:1605960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749593 Ncapg non-SMC condensin I complex subunit G gene DOID:684 hepatocellular carcinoma ISO RGD:1605960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8749593 Ncapg non-SMC condensin I complex subunit G gene DOID:9000918 Disease Progression ISO RGD:1605960 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480403 8749593 Ncapg non-SMC condensin I complex subunit G gene DOID:9007715 Endometrial Neoplasms ISO RGD:1605960 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34480403 8749631 Cpne1 copine 1 gene DOID:0080281 schizophrenia 19 ISO RGD:1322452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia 19 PMID:28628109 8749631 Cpne1 copine 1 gene DOID:630 genetic disease ISO RGD:1322452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:68638 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:11054 urinary bladder cancer ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306368 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:68639 D RGD:9068941 20220825 MouseDO OMIM:125800 | OMIM:304800 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:1459 hypothyroidism ISO RGD:68428 D RGD:9068941 20200609 RGD PMID:12595491|REF_RGD_ID:704374 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:1749 squamous cell carcinoma ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:2316 brain ischemia ISO RGD:68428 D RGD:9068941 20200609 RGD PMID:19616516|REF_RGD_ID:5490152 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:4724 brain edema ISO RGD:68638 D RGD:9068941 20230727 RGD mRNA:increased expression:neocortex,Pyramidal cells (human) PMID:27487831|REF_RGD_ID:329969876 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:630 genetic disease ISO RGD:68638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9000081 Lymphatic Metastasis ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9000117 Esophageal Neoplasms ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9002762 Ovarian Neoplasms ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18214481 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9004464 Skin Neoplasms ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9005873 Tongue Neoplasms ISO RGD:68638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9562 primary ciliary dyskinesia ISO RGD:68638 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8749671 Aqp3 aquaporin 3 (Gill blood group) gene DOID:9870 galactosemia ISO RGD:68638 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8749681 Mtpn myotrophin gene DOID:10763 hypertension ISO RGD:619806 D RGD:9068941 20200609 RGD PMID:12031792|PMID:12419325|REF_RGD_ID:1581046|REF_RGD_ID:632799 8749681 Mtpn myotrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:1603905 D RGD:9068941 20200609 RGD PMID:8508536|REF_RGD_ID:1581048 8749681 Mtpn myotrophin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8749681 Mtpn myotrophin gene DOID:630 genetic disease ISO RGD:1603905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749681 Mtpn myotrophin gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:619806 D RGD:9068941 20200609 RGD PMID:10329199|REF_RGD_ID:1581047 8749681 Mtpn myotrophin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8749689 Rassf3 Ras association domain family member 3 gene DOID:630 genetic disease ISO RGD:1322918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749689 Rassf3 Ras association domain family member 3 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8749697 Bccip BRCA2 and CDKN1A interacting protein gene DOID:630 genetic disease ISO RGD:1316516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8749708 B3gnt6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 gene DOID:1059 intellectual disability ISO RGD:1601928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8749708 B3gnt6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 gene DOID:630 genetic disease ISO RGD:1601928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749708 B3gnt6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1601928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8749713 Wdr62 WD repeat domain 62 gene DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ISO RGD:1315489 D RGD:7240710 20180130 OMIM 8749713 Wdr62 WD repeat domain 62 gene DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations ISO RGD:1315489 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 | ClinVar Annotator: match by term: WDR62-related condition PMID:10573015|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20729831|PMID:20890278|PMID:20890279|PMID:21834044|PMID:21961505|PMID:22775483|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:26077850|PMID:26467025|PMID:28004384|PMID:28377545|PMID:28492532|PMID:28756000|PMID:31130284|PMID:31589614|PMID:33502066|PMID:33589534|PMID:33604570|PMID:3440221|PMID:34402213|PMID:9536098 8749713 Wdr62 WD repeat domain 62 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:20729831|PMID:21961505|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:28492532|PMID:28756000|PMID:31130284 8749713 Wdr62 WD repeat domain 62 gene DOID:0080918 polymicrogyria ISO RGD:1315489 D RGD:9068941 20200609 RGD DNA:deletion mutations:exons:p.S696fsX4 (c.2083delA),p.Q918GfsX18 (c.2472_2473delAG)(human) PMID:21834044|REF_RGD_ID:11541050 8749713 Wdr62 WD repeat domain 62 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1315489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23341463 8749713 Wdr62 WD repeat domain 62 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8749713 Wdr62 WD repeat domain 62 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1315489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8749713 Wdr62 WD repeat domain 62 gene DOID:1059 intellectual disability ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:18414213|PMID:25741868|PMID:27784895|PMID:28492532|PMID:30167849|PMID:9536098 8749713 Wdr62 WD repeat domain 62 gene DOID:10907 microcephaly ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive 8749713 Wdr62 WD repeat domain 62 gene DOID:1826 epilepsy ISO RGD:1315489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8749713 Wdr62 WD repeat domain 62 gene DOID:630 genetic disease ISO RGD:1315489 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20729831|PMID:21961505|PMID:23065275|PMID:24228726|PMID:25303973|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28756000|PMID:31130284|PMID:31589614|PMID:33502066|PMID:33589534|PMID:33604570 8749713 Wdr62 WD repeat domain 62 gene DOID:684 hepatocellular carcinoma ISO RGD:1315489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8749713 Wdr62 WD repeat domain 62 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1315489 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:18414213|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33502066|PMID:33589534|PMID:33604570 8749713 Wdr62 WD repeat domain 62 gene DOID:9006534 Nervous System Malformations ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8749713 Wdr62 WD repeat domain 62 gene DOID:9007661 Dwarfism ISO RGD:1553526 D RGD:9068941 20200609 RGD PMID:24875059|REF_RGD_ID:11541053 8749713 Wdr62 WD repeat domain 62 gene DOID:9008086 Developmental Disabilities ISO RGD:1315489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8749748 Kcnj3 potassium inwardly rectifying channel subfamily J member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8749748 Kcnj3 potassium inwardly rectifying channel subfamily J member 3 gene DOID:630 genetic disease ISO RGD:733789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749760 Krt8 keratin 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:735536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:15090596|PMID:25741868 8749760 Krt8 keratin 8 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8749760 Krt8 keratin 8 gene DOID:1883 hepatitis C ISO RGD:735536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hepatitis C virus, susceptibility to PMID:11372009|PMID:15090596|PMID:15235035|PMID:25741868|PMID:28492532|PMID:33116287 8749760 Krt8 keratin 8 gene DOID:299 adenocarcinoma ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8749760 Krt8 keratin 8 gene DOID:4450 renal cell carcinoma ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8749760 Krt8 keratin 8 gene DOID:5082 liver cirrhosis ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20538000 8749760 Krt8 keratin 8 gene DOID:5082 liver cirrhosis ISO RGD:735536 D RGD:9068941 20200609 RGD PMID:11372009|REF_RGD_ID:1600062 8749760 Krt8 keratin 8 gene DOID:5082 liver cirrhosis ISO RGD:735536 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver (human) PMID:15368451|REF_RGD_ID:14401583 8749760 Krt8 keratin 8 gene DOID:630 genetic disease ISO RGD:735536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749760 Krt8 keratin 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8749760 Krt8 keratin 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8749760 Krt8 keratin 8 gene DOID:9004017 Chronic Hepatitis C ISO RGD:735536 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver (human) PMID:15368451|REF_RGD_ID:14401583 8749760 Krt8 keratin 8 gene DOID:9004590 Acute Liver Failure ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20538000 8749760 Krt8 keratin 8 gene DOID:9005167 Cryptogenic Cirrhosis ISO RGD:735536 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cirrhosis, cryptogenic PMID:11372009|PMID:12724528|PMID:15235035|PMID:28492532|PMID:33116287|PMID:9011570 8749760 Krt8 keratin 8 gene DOID:9007188 Liver Neoplasms ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19409407|PMID:19796649 8749760 Krt8 keratin 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8749760 Krt8 keratin 8 gene DOID:9007543 Familial Cirrhosis ISO RGD:735536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial | ClinVar Annotator: match by term: Cirrhosis, noncryptogenic, susceptibility to PMID:12724528|PMID:25741868|PMID:9011570 8749760 Krt8 keratin 8 gene DOID:9008691 Liver Injury susceptibility ISO RGD:735536 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S73A (human gene in a mouse model) PMID:16818723|REF_RGD_ID:14398758 8749760 Krt8 keratin 8 gene DOID:9008939 Breast Neoplasms ISO RGD:735536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061804 8749764 Mfsd6l major facilitator superfamily domain containing 6 like gene DOID:630 genetic disease ISO RGD:1603890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749769 Ifitm10 interferon induced transmembrane protein 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8749769 Ifitm10 interferon induced transmembrane protein 10 gene DOID:0080773 delta beta-thalassemia ISO RGD:5132175 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8749769 Ifitm10 interferon induced transmembrane protein 10 gene DOID:0111969 immunodeficiency 39 ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8749769 Ifitm10 interferon induced transmembrane protein 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8749769 Ifitm10 interferon induced transmembrane protein 10 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8749769 Ifitm10 interferon induced transmembrane protein 10 gene DOID:630 genetic disease ISO RGD:5132175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749769 Ifitm10 interferon induced transmembrane protein 10 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:5132175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8749792 Lad1 ladinin 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8749792 Lad1 ladinin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1321680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8749792 Lad1 ladinin 1 gene DOID:630 genetic disease ISO RGD:1321680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749792 Lad1 ladinin 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321680 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8749792 Lad1 ladinin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1607035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T ISO RGD:1607035 D RGD:7240710 20180130 OMIM 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T ISO RGD:1607035 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2T | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 PMID:19901254|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27527004|PMID:27766311|PMID:27874200|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:28914264|PMID:29437916|PMID:30060766|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:32403337|PMID:32404165|PMID:34008892|PMID:34106991|PMID:34333724|PMID:35006422 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0111233 congenital muscular dystrophy-dystroglycanopathy A14 ISO RGD:1607035 D RGD:7240710 20180130 OMIM 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0111233 congenital muscular dystrophy-dystroglycanopathy A14 ISO RGD:1607035 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 PMID:16199547|PMID:17576681|PMID:19901254|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:26467025|PMID:27147698|PMID:27527004|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:28914264|PMID:29437916|PMID:30060766|PMID:30257713|PMID:30684953|PMID:31211170|PMID:31980526|PMID:32056211|PMID:32115343|PMID:32403337|PMID:32404165|PMID:33756069|PMID:34008892|PMID:34106991|PMID:34333724|PMID:35006422|PMID:9536098 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1607035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1607035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:23768512|PMID:25326637|PMID:25741868|PMID:26310427|PMID:27766311|PMID:28492532|PMID:29437916|PMID:30257713|PMID:30684953|PMID:32403337|PMID:32404165 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 ISO RGD:1607035 D RGD:7240710 20180130 OMIM 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 ISO RGD:1607035 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 PMID:19901254|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31980526|PMID:32115343|PMID:32403337|PMID:32404165|PMID:34008892|PMID:34106991|PMID:34333724|PMID:35006422 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:630 genetic disease ISO RGD:1607035 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23768512|PMID:23894383|PMID:24033266|PMID:24780531|PMID:25326637|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:26467025|PMID:27147698|PMID:27766311|PMID:27874200|PMID:28433477|PMID:28478914|PMID:28492532|PMID:28554332|PMID:28877744|PMID:29437916|PMID:30257713|PMID:30684953|PMID:31211170|PMID:31980526|PMID:32115343|PMID:32403337|PMID:32404165|PMID:34008892|PMID:34106991|PMID:34333724|PMID:35006422|PMID:9536098 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:9008086 Developmental Disabilities ISO RGD:1607035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8749806 Gmppb GDP-mannose pyrophosphorylase B gene DOID:9884 muscular dystrophy ISO RGD:1607035 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:23768512|PMID:24033266|PMID:24780531|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27527004|PMID:27766311|PMID:27874200|PMID:28478914|PMID:28492532|PMID:29437916|PMID:30060766|PMID:30257713|PMID:30684953|PMID:32115343|PMID:34106991|PMID:35006422 8749819 Grm7 glutamate metabotropic receptor 7 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1603058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138692 8749819 Grm7 glutamate metabotropic receptor 7 gene DOID:1826 epilepsy ISO RGD:1603058 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8749819 Grm7 glutamate metabotropic receptor 7 gene DOID:303 substance-related disorder ISO RGD:1603058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8749819 Grm7 glutamate metabotropic receptor 7 gene DOID:630 genetic disease ISO RGD:1603058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8749819 Grm7 glutamate metabotropic receptor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8749819 Grm7 glutamate metabotropic receptor 7 gene DOID:9005055 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES ISO RGD:1603058 D RGD:7240710 20201111 OMIM 8749819 Grm7 glutamate metabotropic receptor 7 gene DOID:9005055 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES ISO RGD:1603058 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities PMID:25741868|PMID:27435318|PMID:28492532|PMID:32286009 8749819 Grm7 glutamate metabotropic receptor 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1603058 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8749819 Grm7 glutamate metabotropic receptor 7 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1603058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8749846 Cavin1 caveolae associated protein 1 gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:1317017 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 8749846 Cavin1 caveolae associated protein 1 gene DOID:0111138 congenital generalized lipodystrophy type 4 ISO RGD:1317017 D RGD:7240710 20180130 OMIM 8749846 Cavin1 caveolae associated protein 1 gene DOID:0111138 congenital generalized lipodystrophy type 4 ISO RGD:1317017 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 PMID:12116229|PMID:18698612|PMID:19726876|PMID:20300641|PMID:20684003|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31778856 8749846 Cavin1 caveolae associated protein 1 gene DOID:14749 methylmalonic acidemia ISO RGD:1317017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 8749846 Cavin1 caveolae associated protein 1 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:1317017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant PMID:28492532 8749846 Cavin1 caveolae associated protein 1 gene DOID:630 genetic disease ISO RGD:1317017 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8749846 Cavin1 caveolae associated protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:1317018 D RGD:9068941 20220825 MouseDO OMIM:615371 8749846 Cavin1 caveolae associated protein 1 gene DOID:9004657 Weight Gain ISO RGD:1317017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8749846 Cavin1 caveolae associated protein 1 gene DOID:9351 diabetes mellitus ISO RGD:1317017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 8749852 Slc35g2 solute carrier family 35 member G2 gene DOID:1909 melanoma ISO RGD:1314532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8749852 Slc35g2 solute carrier family 35 member G2 gene DOID:630 genetic disease ISO RGD:1314532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749852 Slc35g2 solute carrier family 35 member G2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1314532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8749858 CUNH20orf141 chromosome unknown C20orf141 homolog gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1347173 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8749858 CUNH20orf141 chromosome unknown C20orf141 homolog gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1347173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8749858 CUNH20orf141 chromosome unknown C20orf141 homolog gene DOID:630 genetic disease ISO RGD:1347173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749865 Ppp1r3b protein phosphatase 1 regulatory subunit 3B gene DOID:630 genetic disease ISO RGD:1344962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749865 Ppp1r3b protein phosphatase 1 regulatory subunit 3B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8749865 Ppp1r3b protein phosphatase 1 regulatory subunit 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8749875 Gfap glial fibrillary acidic protein gene DOID:0060041 autism spectrum disorder ISO RGD:619574 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8749875 Gfap glial fibrillary acidic protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8749875 Gfap glial fibrillary acidic protein gene DOID:0060249 scoliosis ISO RGD:619574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis 8749875 Gfap glial fibrillary acidic protein gene DOID:0080600 COVID-19 ISO RGD:619574 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:33743046|REF_RGD_ID:127284892 8749875 Gfap glial fibrillary acidic protein gene DOID:0080600 COVID-19 disease_progression ISO RGD:619574 D RGD:9068941 20210625 RGD protein:increased expression:plasma (human) PMID:32546655|REF_RGD_ID:127284882 8749875 Gfap glial fibrillary acidic protein gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:619574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 8749875 Gfap glial fibrillary acidic protein gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 8749875 Gfap glial fibrillary acidic protein gene DOID:12098 trigeminal neuralgia ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8749875 Gfap glial fibrillary acidic protein gene DOID:12217 Lewy body dementia ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8749875 Gfap glial fibrillary acidic protein gene DOID:14330 Parkinson's disease ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8749875 Gfap glial fibrillary acidic protein gene DOID:1826 epilepsy ISO RGD:619574 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8749875 Gfap glial fibrillary acidic protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11723166 8749875 Gfap glial fibrillary acidic protein gene DOID:4252 Alexander disease ISO RGD:619574 D RGD:7240710 20180130 OMIM 8749875 Gfap glial fibrillary acidic protein gene DOID:4252 Alexander disease ISO RGD:619574 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Alexander disease | ClinVar Annotator: match by term: GFAP-related condition PMID:11138011|PMID:11398833|PMID:11567214|PMID:11587071|PMID:11595337|PMID:11867077|PMID:12026242|PMID:12034785|PMID:12034796|PMID:12368989|PMID:12447932|PMID:12509855|PMID:12581808|PMID:12638020|PMID:12944715|PMID:12975300|PMID:14550921|PMID:14557587|PMID:15030911|PMID:15390001|PMID:15465095|PMID:15477559|PMID:15675360|PMID:15696488|PMID:15732097|PMID:15732098|PMID:15840648|PMID:16168593|PMID:16168595|PMID:16217707|PMID:16240361|PMID:16505300|PMID:16826512|PMID:16996408|PMID:17043438|PMID:17065456|PMID:17110673|PMID:17156703|PMID:17318298|PMID:17383133|PMID:17438228|PMID:17509491|PMID:17629821|PMID:17703343|PMID:17805552|PMID:17894839|PMID:17934883|PMID:17960815|PMID:17985264|PMID:18054694|PMID:18079314|PMID:18217876|PMID:18276609|PMID:18388212|PMID:18402384|PMID:18495313|PMID:18581469|PMID:18584981|PMID:18653683|PMID:18684770|PMID:19128991|PMID:19386454|PMID:1941292|PMID:19418047|PMID:19444543|PMID:19484233|PMID:19618846|PMID:19672978|PMID:19948199|PMID:20301351|PMID:20448479|PMID:20562394|PMID:20849398|PMID:21041050|PMID:21132324|PMID:21165639|PMID:21270471|PMID:21533827|PMID:21572052|PMID:21756903|PMID:21822933|PMID:219025661|PMID:21917775|PMID:21940697|PMID:21987397|PMID:22140645|PMID:22198646|PMID:22302460|PMID:22488673|PMID:22566711|PMID:22619055|PMID:22818990|PMID:23149175|PMID:23185175|PMID:23254569|PMID:23364391|PMID:23430549|PMID:23432455|PMID:23634874|PMID:23706596|PMID:23743246|PMID:23903069|PMID:23925719|PMID:24045243|PMID:24188966|PMID:24306001|PMID:24427505|PMID:24742911|PMID:24755947|PMID:25741868|PMID:25997626|PMID:26208460|PMID:26285664|PMID:26467025|PMID:26478912|PMID:26486469|PMID:26719496|PMID:26743065|PMID:27468269|PMID:27648269|PMID:27697855|PMID:27814755|PMID:28492532|PMID:28882119|PMID:28953922|PMID:29421207|PMID:29431177|PMID:30048824|PMID:30213442|PMID:30293991|PMID:30355306|PMID:30355500|PMID:30628038|PMID:31484723|PMID:31611638|PMID:31942421|PMID:31956193|PMID:32126152|PMID:34146839|PMID:34245630 8749875 Gfap glial fibrillary acidic protein gene DOID:4724 brain edema ISO RGD:2679 D RGD:9068941 20200609 RGD associated with Embolism, Fat;protein:increased expression:brain PMID:20111877|REF_RGD_ID:5490129 8749875 Gfap glial fibrillary acidic protein gene DOID:5679 retinal disease ISO RGD:2679 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18836575|REF_RGD_ID:5490154 8749875 Gfap glial fibrillary acidic protein gene DOID:574 peripheral nervous system disease ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10447555 8749875 Gfap glial fibrillary acidic protein gene DOID:630 genetic disease ISO RGD:619574 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11138011|PMID:11398833|PMID:12034785|PMID:14550921|PMID:15390001|PMID:15732097|PMID:16505300|PMID:16826512|PMID:17894839|PMID:18388212|PMID:18684770|PMID:21756903|PMID:22140645|PMID:24742911|PMID:25741868|PMID:26467025|PMID:27814755|PMID:28492532|PMID:30213442|PMID:30355500|PMID:31484723|PMID:31611638 8749875 Gfap glial fibrillary acidic protein gene DOID:863 nervous system disease ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10773198|PMID:9427479|PMID:9634552 8749875 Gfap glial fibrillary acidic protein gene DOID:8869 neuromyelitis optica ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509235 8749875 Gfap glial fibrillary acidic protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:10633 D RGD:9068941 20200609 RGD PMID:10225952|REF_RGD_ID:6480471 8749875 Gfap glial fibrillary acidic protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:2679 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21250919|REF_RGD_ID:6480511 8749875 Gfap glial fibrillary acidic protein gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2679 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 8749875 Gfap glial fibrillary acidic protein gene DOID:9001036 Penetrating Head Injuries ISO RGD:10633 D RGD:9068941 20200609 RGD PMID:10225952|REF_RGD_ID:6480471 8749875 Gfap glial fibrillary acidic protein gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:2679 D RGD:9068941 20240201 RGD PMID:27894930|REF_RGD_ID:401959751 8749875 Gfap glial fibrillary acidic protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2679 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 8749875 Gfap glial fibrillary acidic protein gene DOID:9002211 Hyperalgesia ISO RGD:2679 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries;mRNA,protein:increased expression:brain,spinal cord: PMID:16219025|REF_RGD_ID:8695957 8749875 Gfap glial fibrillary acidic protein gene DOID:9002211 Hyperalgesia ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8749875 Gfap glial fibrillary acidic protein gene DOID:9003919 Urination Disorders ISO RGD:2679 D RGD:9068941 20200609 RGD associated with spinal cord injuries PMID:21250919|REF_RGD_ID:6480511 8749875 Gfap glial fibrillary acidic protein gene DOID:9006008 Closed Head Injuries ISO RGD:2679 D RGD:9068941 20200609 RGD PMID:8833197|REF_RGD_ID:6480531 8749875 Gfap glial fibrillary acidic protein gene DOID:9006205 Animal Disease Models ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8749875 Gfap glial fibrillary acidic protein gene DOID:9007096 Stroke severity ISO RGD:619574 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:19959621|REF_RGD_ID:5508793 8749875 Gfap glial fibrillary acidic protein gene DOID:9007402 Gliosis ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12183020 8749875 Gfap glial fibrillary acidic protein gene DOID:9007921 Spina Bifida Cystica ISO RGD:619574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8422324 8749875 Gfap glial fibrillary acidic protein gene DOID:9009131 Ventriculomegaly ISO RGD:619574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive ventriculomegaly PMID:25741868 8749875 Gfap glial fibrillary acidic protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:619574 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 8749915 Dync1li2 dynein cytoplasmic 1 light intermediate chain 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8749915 Dync1li2 dynein cytoplasmic 1 light intermediate chain 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1344148 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8749915 Dync1li2 dynein cytoplasmic 1 light intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1344148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749915 Dync1li2 dynein cytoplasmic 1 light intermediate chain 2 gene DOID:9004657 Weight Gain ISO RGD:1344148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1313536 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1313536 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31742824|PMID:31992580|PMID:32068069|PMID:32661327|PMID:32773772|PMID:33120919|PMID:33471991|PMID:35089076|PMID:35535697|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25512458|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27589204|PMID:27601186|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29887214|PMID:29946849|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31742824|PMID:31992580|PMID:32068069|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:33120919|PMID:33259954|PMID:33471991|PMID:33693762|PMID:34271781|PMID:35089076|PMID:35402282|PMID:35535697|PMID:36073783|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1313536 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10479499|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:16144131|PMID:16426742|PMID:16472587|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17029773|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19389263|PMID:19495563|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21376568|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23652311|PMID:23709753|PMID:23960188|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24790682|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25512458|PMID:25637381|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26837502|PMID:26845104|PMID:26895986|PMID:26898890|PMID:27017610|PMID:27037742|PMID:27064304|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28726808|PMID:28765196|PMID:28873162|PMID:28874130|PMID:28888541|PMID:29596542|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29946849|PMID:30013564|PMID:30113427|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30337059|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30809968|PMID:31159747|PMID:31269945|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32914570|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33693762|PMID:34271781|PMID:34326862|PMID:34489406|PMID:34680242|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35535697|PMID:36073783|PMID:36134613|PMID:36360190|PMID:36586540|PMID:36647049|PMID:36715493|PMID:36988593|PMID:37536918|PMID:7628019|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1313536 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:17016615|PMID:20186688|PMID:22290698|PMID:25741868|PMID:25980754|PMID:26232782|PMID:26467025|PMID:27601186|PMID:27930734|PMID:28492532|PMID:31433215 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:1313536 D RGD:7240710 20180130 OMIM 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:1313536 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 | ClinVar Annotator: match by term: Lynch syndrome 4 PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12900794|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26416026|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28640387|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:1313536 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 | ClinVar Annotator: match by term: Lynch syndrome 4 PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:29597095|PMID:29625052|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31300551|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31830689|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34680242|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35982947|PMID:36011273|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36931573|PMID:36988593|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:1313536 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:23435383|PMID:25741868|PMID:28492532|PMID:35451539 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:1313536 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 PMID:10199405|PMID:11574484|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26249686|PMID:28492532|PMID:30653781 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1313536 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18007577|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31589614|PMID:31599855|PMID:31857677|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:34048176|PMID:34271781|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35886069|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1313536 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18007577|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31589614|PMID:31599855|PMID:31857677|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:34048176|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35886069|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1313536 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: MMR DEFICIENCY PMID:15256438|PMID:16144131|PMID:16619239|PMID:17016615|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19156169|PMID:20186688|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22949387|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24897087|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25980754|PMID:26116798|PMID:26232782|PMID:26318770|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26845104|PMID:27433846|PMID:27435373|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27930734|PMID:28125078|PMID:28152038|PMID:28449805|PMID:28492532|PMID:28528518|PMID:28596308|PMID:29875428|PMID:30013564|PMID:30608896|PMID:30612635|PMID:30702970|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32719484|PMID:33258288|PMID:33471991|PMID:33504652|PMID:35535697|PMID:36360190|PMID:7628019 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:10283 prostate cancer disease_progression ISO RGD:1313536 D RGD:9068941 20200609 RGD PMID:19124481|REF_RGD_ID:2315026 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:10534 stomach cancer ISO RGD:1313536 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:12714694|PMID:15077197|PMID:15845562|PMID:16199547|PMID:16426742|PMID:18602922|PMID:19495563|PMID:1992580|PMID:20205264|PMID:20487569|PMID:21261604|PMID:21376568|PMID:22918162|PMID:23012243|PMID:23709753|PMID:24033266|PMID:24362816|PMID:24440087|PMID:25430799|PMID:25477341|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25980754|PMID:26110232|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26467025|PMID:26681312|PMID:26720728|PMID:26895986|PMID:26898890|PMID:27064304|PMID:27273229|PMID:27476653|PMID:27589204|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28640387|PMID:28724667|PMID:28975465|PMID:29625052|PMID:29667044|PMID:30256826|PMID:30322717|PMID:30376427|PMID:30521064|PMID:30680046|PMID:30729418|PMID:31056861|PMID:31101557|PMID:31118792|PMID:31589614|PMID:31992580|PMID:32012241|PMID:32794040|PMID:32885271|PMID:33471991|PMID:34178123|PMID:34285288|PMID:35449176|PMID:36647049|PMID:36988593|PMID:7632227|PMID:7661930|PMID:9488480 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1313536 D RGD:9068941 20200609 RGD DNA:SNP: :rs6463524 (human) PMID:19692168|REF_RGD_ID:2315025 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1520 colon carcinoma ISO RGD:1313536 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10037723|PMID:10480359|PMID:11574484|PMID:11793469|PMID:12900794|PMID:15470502|PMID:16199547|PMID:16338176|PMID:16472587|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19389263|PMID:20186688|PMID:20205264|PMID:20533529|PMID:21239990|PMID:21376568|PMID:21618646|PMID:22290698|PMID:22608206|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23709753|PMID:2402700|PMID:24027009|PMID:24362816|PMID:24728327|PMID:25194673|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25741868|PMID:25856668|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26333163|PMID:26467025|PMID:26689913|PMID:26845104|PMID:26976419|PMID:27082517|PMID:27376475|PMID:27435373|PMID:27930734|PMID:28135145|PMID:28166811|PMID:28218421|PMID:28466842|PMID:28492532|PMID:28502729|PMID:285143|PMID:29300386|PMID:29478780|PMID:29684080|PMID:30103829|PMID:30374176|PMID:30764633|PMID:31159747|PMID:31336956|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31650731|PMID:31857677|PMID:31992580|PMID:32547938|PMID:32658311|PMID:32832836|PMID:33471991|PMID:35263119|PMID:35449176|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30651582|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31784482|PMID:31992580|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:9536098 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:36988593|PMID:9536098 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26416026|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29597095|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34371384|PMID:35189042|PMID:35449176|PMID:36988593|PMID:9536098 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1313536 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10479499|PMID:10480359|PMID:15077197|PMID:16619239|PMID:17016615|PMID:17576681|PMID:18602922|PMID:19132747|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20698049|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22703879|PMID:22918162|PMID:23012243|PMID:23376243|PMID:23709753|PMID:23960188|PMID:24027009|PMID:24033266|PMID:24326041|PMID:24351291|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25856668|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26318770|PMID:26333163|PMID:26416026|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26888055|PMID:27028851|PMID:27153395|PMID:27435373|PMID:27443514|PMID:27589204|PMID:27601186|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28724667|PMID:28765196|PMID:28873162|PMID:28874130|PMID:29597095|PMID:29659569|PMID:29703253|PMID:29752822|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30651582|PMID:30702970|PMID:31056861|PMID:31159747|PMID:31307542|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31433215|PMID:31741177|PMID:31784482|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32133419|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32628757|PMID:32658311|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34250417|PMID:34284872|PMID:34285288|PMID:34359559|PMID:34371384|PMID:35189042|PMID:35449176|PMID:36988593|PMID:9536098 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:219 colon cancer ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:2394 ovarian cancer ISO RGD:1313536 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10479499|PMID:10480359|PMID:15077197|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:22086678|PMID:22290698|PMID:22703879|PMID:24027009|PMID:24072394|PMID:24689082|PMID:24728327|PMID:25142776|PMID:25479140|PMID:25503501|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26798439|PMID:26845104|PMID:26900293|PMID:27028851|PMID:27356891|PMID:27435373|PMID:27601186|PMID:27616075|PMID:27720647|PMID:27930734|PMID:28135145|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28528518|PMID:28874130|PMID:29570743|PMID:29684080|PMID:30093976|PMID:30122538|PMID:30166348|PMID:30521064|PMID:31269945|PMID:31391288|PMID:31742824|PMID:31830689|PMID:31921681|PMID:32068069|PMID:32566746|PMID:32661327|PMID:32832836|PMID:32914570|PMID:32980694|PMID:33413596|PMID:33471991|PMID:33850299|PMID:34172528|PMID:34350294|PMID:34567566|PMID:35171259|PMID:35449176|PMID:36200007 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:2394 ovarian cancer disease_progression ISO RGD:1313536 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228006 (human) PMID:18723338|REF_RGD_ID:2315028 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:2871 endometrial carcinoma ISO RGD:1313536 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10479499|PMID:10480359|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:15872200|PMID:16144131|PMID:16199547|PMID:16472587|PMID:16619239|PMID:17139668|PMID:17557300|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18602922|PMID:18768816|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22577899|PMID:22703879|PMID:22875147|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23435383|PMID:23709753|PMID:23981578|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24130102|PMID:24326041|PMID:24362816|PMID:24434690|PMID:24440087|PMID:24556621|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25503501|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26272126|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26811195|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26921362|PMID:27001570|PMID:27050224|PMID:27203213|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27476653|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28449805|PMID:28492532|PMID:28528518|PMID:28596308|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29333623|PMID:29345684|PMID:29570743|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29887214|PMID:30013564|PMID:30322717|PMID:30608896|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:31159747|PMID:31300551|PMID:31327751|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32547938|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32719484|PMID:33258288|PMID:33471991|PMID:33504652|PMID:34371384|PMID:35223509|PMID:35264596|PMID:35449176|PMID:35451539|PMID:35535697|PMID:36360190|PMID:7628019|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3247 rhabdomyosarcoma ISO RGD:1313536 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10037723|PMID:15077197|PMID:16507833|PMID:18602922|PMID:18824584|PMID:19092773|PMID:20205264|PMID:20581245|PMID:21356188|PMID:21618646|PMID:23012243|PMID:2440087|PMID:25512458|PMID:25525159|PMID:25741868|PMID:26110232|PMID:26895986|PMID:27435373|PMID:28492532|PMID:28805995|PMID:31433215|PMID:32773772|PMID:34048176|PMID:7629132 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3459 breast carcinoma ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:16199547|PMID:21376568|PMID:24362816|PMID:25741868|PMID:28492532 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11897781|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:20961292|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27854218|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34178123|PMID:34284872|PMID:34371384|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34115236|PMID:34178123|PMID:34284872|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32369273|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34284872|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24323032|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27854218|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:36091175|PMID:36647049|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22406018|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34465341|PMID:34646395|PMID:34667028|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14574005|PMID:14756672|PMID:14978792|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942039|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16774946|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17258725|PMID:17312306|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17653898|PMID:17851451|PMID:17976239|PMID:17993636|PMID:18007577|PMID:18030674|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18376293|PMID:18415027|PMID:18602922|PMID:18619468|PMID:187425|PMID:18768816|PMID:18809606|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:19763152|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20307669|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22406018|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23288611|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23582141|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26416026|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:285143|PMID:28528518|PMID:28529006|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:29597095|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31860975|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34247610|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34465341|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34820595|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1313536 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:36931573|PMID:36988593|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:4916 pituitary carcinoma ISO RGD:1313536 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pituitary carcinoma PMID:15256438|PMID:16144131|PMID:16619239|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19156169|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22577899|PMID:22949387|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24897087|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25637381|PMID:25741868|PMID:25871621|PMID:26116798|PMID:26318770|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26845104|PMID:27433846|PMID:27435373|PMID:27806231|PMID:27863258|PMID:28125078|PMID:28152038|PMID:28449805|PMID:28492532|PMID:28528518|PMID:28596308|PMID:29875428|PMID:30013564|PMID:30608896|PMID:30612635|PMID:30702970|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32719484|PMID:33258288|PMID:33504652|PMID:35535697|PMID:36360190|PMID:7628019 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:17576681|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:7628019|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35535697|PMID:7628019|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35535697|PMID:7628019|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27863258|PMID:27878467|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28365877|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31874108|PMID:31992580|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:30013564|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35189042|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11574484|PMID:12208142|PMID:14756672|PMID:15256438|PMID:15304120|PMID:15521988|PMID:16144131|PMID:16472587|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17139668|PMID:17557300|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949387|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27050224|PMID:27060149|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29333623|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:30013564|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32060697|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34284872|PMID:34371384|PMID:35189042|PMID:35263119|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25345868|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:7628019|PMID:9419979|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26416026|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29597095|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:36134613|PMID:36243179|PMID:36360190|PMID:36446039|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313536 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10479499|PMID:10480359|PMID:11574484|PMID:12208142|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:16144131|PMID:16338176|PMID:16472587|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17139668|PMID:17312306|PMID:17557300|PMID:17567544|PMID:18273873|PMID:18602922|PMID:19132747|PMID:19156169|PMID:19479271|PMID:19526325|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20531397|PMID:20533529|PMID:20624957|PMID:20698049|PMID:21204794|PMID:21239990|PMID:21376568|PMID:22086678|PMID:22290698|PMID:22577899|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23612316|PMID:23709753|PMID:23837913|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:24549055|PMID:24689082|PMID:24728327|PMID:24897087|PMID:25006859|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25871621|PMID:25938944|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26318770|PMID:26333163|PMID:26416026|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26866578|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27153395|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27647783|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:285143|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28726808|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29360161|PMID:29570743|PMID:29597095|PMID:29659569|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:29946849|PMID:30013564|PMID:30067863|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30256826|PMID:30306255|PMID:30337059|PMID:30374176|PMID:30447919|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30702970|PMID:30760869|PMID:30809968|PMID:30833958|PMID:31159747|PMID:31327751|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33258288|PMID:33359728|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34172528|PMID:34271781|PMID:34284872|PMID:34326862|PMID:34371384|PMID:34680242|PMID:34820595|PMID:35089076|PMID:35171259|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35982947|PMID:36134613|PMID:36165864|PMID:36243179|PMID:36360190|PMID:36446039|PMID:37536918|PMID:7628019|PMID:9419979|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:684 hepatocellular carcinoma ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17717427 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313536 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:16144131|PMID:16283678|PMID:18602922|PMID:19283792|PMID:20205264|PMID:21239990|PMID:21376568|PMID:22658618|PMID:23012243|PMID:24033266|PMID:24362816|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26895986|PMID:27273229|PMID:28492532|PMID:29489754|PMID:31433215|PMID:33753322|PMID:6144131 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1313536 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:25318351|PMID:25741868|PMID:28492532|PMID:31386297|PMID:35449176 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:1313536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077197 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian neoplasm PMID:10480359|PMID:15256438|PMID:16472587|PMID:19132747|PMID:19526325|PMID:20205264|PMID:22703879|PMID:23709753|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1313536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077197 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9002928 Colonic Neoplasms ISO RGD:1313536 D RGD:9068941 20200609 RGD PMID:10763829|REF_RGD_ID:1599141 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9003685 Mismatch Repair Cancer Syndrome 4 ISO RGD:1313536 D RGD:7240710 20201202 OMIM 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9003685 Mismatch Repair Cancer Syndrome 4 ISO RGD:1313536 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 4 | ClinVar Annotator: match by term: PMS2-related condition PMID:10037723|PMID:10763829|PMID:12714694|PMID:12900794|PMID:14574005|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15470502|PMID:15845562|PMID:16144131|PMID:16199547|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16619239|PMID:17016615|PMID:17557300|PMID:18030674|PMID:18268114|PMID:18273873|PMID:18602922|PMID:18768816|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19293170|PMID:19479271|PMID:19495563|PMID:19690142|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22290698|PMID:22577899|PMID:22675565|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23435383|PMID:23709753|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24440087|PMID:24549055|PMID:24728327|PMID:24897087|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26318770|PMID:26437257|PMID:26467025|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26895986|PMID:26976419|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27273229|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27476653|PMID:27498913|PMID:27806231|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28514183|PMID:28528518|PMID:28591191|PMID:28596308|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28975465|PMID:29300386|PMID:29470806|PMID:29667044|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29945567|PMID:30013564|PMID:30039884|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30764633|PMID:30787465|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31589614|PMID:31857677|PMID:31948886|PMID:31992580|PMID:32039725|PMID:32060697|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33193653|PMID:33258288|PMID:33471991|PMID:33504652|PMID:33535600|PMID:33606809|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34371384|PMID:34489406|PMID:34680242|PMID:35002543|PMID:35189042|PMID:35223509|PMID:35264596|PMID:35449176|PMID:35451539|PMID:35535697|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36360190|PMID:36586540|PMID:36627197|PMID:36715493|PMID:36988593|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:8993976|PMID:9488480 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:1313536 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 PMID:10037723|PMID:11574484|PMID:12714694|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15955779|PMID:16144131|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:17016615|PMID:17557300|PMID:17576681|PMID:18007577|PMID:18273873|PMID:18602922|PMID:18824584|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19495563|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21618646|PMID:22081473|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22658618|PMID:22703879|PMID:22848017|PMID:22918162|PMID:22949387|PMID:23012243|PMID:23435383|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23837913|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24326041|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24897087|PMID:25117502|PMID:25186627|PMID:25194673|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26232782|PMID:26247049|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26845104|PMID:26895986|PMID:26898890|PMID:26976419|PMID:27017610|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27273229|PMID:27356891|PMID:27433846|PMID:27435373|PMID:27449771|PMID:27476653|PMID:27535533|PMID:27589204|PMID:27601186|PMID:27806231|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28218421|PMID:28365877|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28596308|PMID:28724667|PMID:28726808|PMID:28805995|PMID:28873162|PMID:28874130|PMID:29489754|PMID:29570743|PMID:29625052|PMID:29684080|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30077346|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30256826|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30447919|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30680046|PMID:30702970|PMID:30760869|PMID:30764633|PMID:30787465|PMID:31056861|PMID:31159747|PMID:31327751|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31507588|PMID:31589614|PMID:31599855|PMID:31857677|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32459922|PMID:32571878|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32885271|PMID:32959997|PMID:33087929|PMID:33120919|PMID:33258288|PMID:33259954|PMID:33471991|PMID:33504652|PMID:33693762|PMID:33753322|PMID:33881185|PMID:34048176|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34326862|PMID:34371384|PMID:34680242|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35475445|PMID:35535697|PMID:35886069|PMID:35982947|PMID:36360190|PMID:36988593|PMID:37536918|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9004271 Colonic Polyps ISO RGD:1313536 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:16199547|PMID:18602922|PMID:19132747|PMID:19479271|PMID:21376568|PMID:2235355|PMID:24027009|PMID:24033266|PMID:24362816|PMID:25186627|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26467025|PMID:26689913|PMID:27435373|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29785153|PMID:30651582|PMID:30653781|PMID:31159747|PMID:31391288|PMID:31992580 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9006537 Supratentorial Neoplasms ISO RGD:1313536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077197 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11897781|PMID:12208142|PMID:12714694|PMID:12851690|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22295133|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22941189|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29128982|PMID:29286535|PMID:29333623|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29570743 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:31101557|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:33120919|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34178123|PMID:34284872|PMID:34371384|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20603082|PMID:20624957|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22290698|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29489754|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:31101557|PMID:31102422|PMID:31159747|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31599855|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31921681|PMID:31942411|PMID:31992580|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32295625|PMID:32547938|PMID:32566746|PMID:32620519|PMID:32628757|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32830346|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33471991|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34271781|PMID:34284872|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35402282|PMID:35535697|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28135048|PMID:2813514|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35263119|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:36091175|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22295133|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822|PMID:28514183|PMID:28528518|PMID:28562508|PMID:28577310 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28591191|PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28596308|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33821390|PMID:33850299|PMID:34048176|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34350294|PMID:34357101|PMID:34371384|PMID:34646395|PMID:35089076|PMID:35189042|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:36091175|PMID:36200007|PMID:36647049|PMID:36988593|PMID:6144131|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037723|PMID:10199405|PMID:10479499|PMID:10480359|PMID:10763829|PMID:11574484|PMID:11793469|PMID:11948175|PMID:12208142|PMID:12714694|PMID:12851690|PMID:12900794|PMID:14756672|PMID:15077197|PMID:15256438|PMID:15304120|PMID:15470502|PMID:15521988|PMID:15608192|PMID:15845562|PMID:15872200|PMID:15887099|PMID:15887124|PMID:15942939|PMID:15955779|PMID:16144131|PMID:16187360|PMID:16199547|PMID:16283678|PMID:16338176|PMID:16426742|PMID:16472587|PMID:16507833|PMID:16609022|PMID:16619239|PMID:16817031|PMID:16873062|PMID:17016615|PMID:17029773|PMID:17072973|PMID:17139668|PMID:17312306|PMID:17417778|PMID:17557300|PMID:17567544|PMID:17576681|PMID:17976239|PMID:17993636|PMID:18178629|PMID:18268114|PMID:18273873|PMID:18310077|PMID:18415027|PMID:18602922|PMID:18619468|PMID:18709565|PMID:187425|PMID:18768816|PMID:18824584|PMID:19039682|PMID:19072991|PMID:19092773|PMID:19132747|PMID:19156169|PMID:19250412|PMID:19283792|PMID:19389263|PMID:19479271|PMID:19495563|PMID:19526325|PMID:19690142|PMID:19723918|PMID:1992580|PMID:20176959|PMID:20186688|PMID:20186689|PMID:20205264|PMID:20487569|PMID:20531397|PMID:20533529|PMID:20581245|PMID:20587412|PMID:20600922|PMID:20603082|PMID:20624957|PMID:20682701|PMID:20698049|PMID:21153778|PMID:21204794|PMID:21239990|PMID:21261604|PMID:21354867|PMID:21356188|PMID:21376568|PMID:21520333|PMID:21618646|PMID:216319|PMID:21701589|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22204421|PMID:22290698|PMID:22295133|PMID:2235355|PMID:22461402|PMID:22577899|PMID:22585707|PMID:22608206|PMID:22658618|PMID:22675565|PMID:22692065|PMID:22703879|PMID:22740367|PMID:22848017|PMID:22875147|PMID:22918162|PMID:22949379|PMID:22949387|PMID:23012243|PMID:23017166|PMID:23376243|PMID:23435383|PMID:23499907|PMID:23612316|PMID:23629955|PMID:23652311|PMID:23709753|PMID:23729388|PMID:23837913|PMID:23960188|PMID:23981578|PMID:2402700|PMID:24027009|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24113346|PMID:24130102|PMID:24326041|PMID:24351291|PMID:24362816|PMID:2440087|PMID:24434690|PMID:24440087|PMID:2444087|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24790682|PMID:24897087|PMID:25006859|PMID:25117502|PMID:25142776|PMID:25151201|PMID:25186627|PMID:25194673|PMID:25274553|PMID:25318351|PMID:25326637|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25512458|PMID:25525159|PMID:25559809|PMID:25567908|PMID:25637381|PMID:25648859|PMID:25691505|PMID:25741868|PMID:25801821|PMID:25850602|PMID:25851949|PMID:25856668|PMID:25871621|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25986922|PMID:26110232|PMID:26116798|PMID:26163658|PMID:26202870|PMID:26232782|PMID:26247049|PMID:26249686|PMID:26270727|PMID:26272126|PMID:26318770|PMID:26320870|PMID:26333163|PMID:26391938|PMID:26416026|PMID:26423401|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26798439|PMID:26811195|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26921362|PMID:26976419|PMID:27001570|PMID:27017610|PMID:27028851|PMID:27037742|PMID:27050224|PMID:27060149|PMID:27060170|PMID:27064304|PMID:27082517|PMID:27146957|PMID:27153395|PMID:27203213|PMID:27273229|PMID:27356891|PMID:27376475|PMID:27379089|PMID:27433846|PMID:27435373|PMID:2744351|PMID:27443514|PMID:27449771|PMID:27476653|PMID:27498913|PMID:27535533|PMID:27589204|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27621404|PMID:27647783|PMID:27696107|PMID:27720647|PMID:27742654|PMID:27806231|PMID:27820123|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28007021|PMID:28050010|PMID:28051113|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28218421|PMID:28365877|PMID:28381238|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28503822 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313536 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28514183|PMID:285143|PMID:28528518|PMID:28562508|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28617965|PMID:28640387|PMID:28668860|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28805995|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28904067|PMID:28975465|PMID:29025590|PMID:29128982|PMID:29212164|PMID:29286535|PMID:29300386|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29445031|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29570743|PMID:29596542|PMID:29597095|PMID:2962502|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29785153|PMID:29875428|PMID:29887214|PMID:29904176|PMID:29915322|PMID:29922827|PMID:29941579|PMID:29945567|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30039884|PMID:30067863|PMID:30077346|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30155321|PMID:30161022|PMID:30166348|PMID:30192042|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30389464|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30478739|PMID:30521064|PMID:30572730|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30653781|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30760869|PMID:30764633|PMID:30787465|PMID:30809968|PMID:30833958|PMID:30837682|PMID:30877237|PMID:31056861|PMID:31068090|PMID:31101557|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31248605|PMID:31269945|PMID:31300551|PMID:31307542|PMID:31327751|PMID:31332305|PMID:31336956|PMID:31350202|PMID:31360874|PMID:31375768|PMID:31386297|PMID:31391288|PMID:31410062|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31465090|PMID:31494577|PMID:31507588|PMID:31512090|PMID:31589614|PMID:31599855|PMID:31616036|PMID:31650731|PMID:31666926|PMID:31741177|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31883735|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31992580|PMID:32012241|PMID:32039725|PMID:32060697|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32295625|PMID:32369273|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32620519|PMID:32628757|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32664968|PMID:32719484|PMID:32761968|PMID:32773772|PMID:32775946|PMID:32794040|PMID:32809219|PMID:32830346|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33193653|PMID:33206196|PMID:33258288|PMID:33259954|PMID:33294277|PMID:33359728|PMID:33413596|PMID:33453991|PMID:33471991|PMID:33504652|PMID:33510387|PMID:33535600|PMID:33606809|PMID:33646313|PMID:33693762|PMID:33753322|PMID:33821390|PMID:33850299|PMID:33881185|PMID:34048176|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34253388|PMID:34271781|PMID:34284872|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34350294|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34489406|PMID:34567566|PMID:34646395|PMID:34680242|PMID:34820595|PMID:35002543|PMID:35089076|PMID:35127508|PMID:35171259|PMID:35189042|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451539|PMID:35451682|PMID:35475445|PMID:35535697|PMID:35734982|PMID:35886069|PMID:35982947|PMID:36011273|PMID:36091175|PMID:36134613|PMID:36165864|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36356413|PMID:36360190|PMID:36446039|PMID:36451132|PMID:36586540|PMID:36627197|PMID:36647049|PMID:36715493|PMID:36931573|PMID:36988593|PMID:37536918|PMID:572224|PMID:6144131|PMID:663563|PMID:674263|PMID:7628019|PMID:7629132|PMID:7632227|PMID:7661930|PMID:7704024|PMID:8072530|PMID:8993976|PMID:9419979|PMID:9488480|PMID:9536098|PMID:9683794 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9007502 Brain Neoplasms ISO RGD:1313536 D RGD:9068941 20200609 RGD PMID:10763829|REF_RGD_ID:1599141 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9008939 Breast Neoplasms ISO RGD:1313536 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:23709753|PMID:24033266|PMID:25741868|PMID:27146957|PMID:28466842|PMID:28492532|PMID:31422818|PMID:34326862 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313536 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:26467025|PMID:27449771|PMID:27616075|PMID:28492532|PMID:31159747|PMID:33294277|PMID:35089076 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313536 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:26467025|PMID:26689913|PMID:27449771|PMID:27616075|PMID:28492532|PMID:31159747|PMID:33294277|PMID:35089076|PMID:35127508|PMID:36011273 8749942 Pms2 PMS1 homolog 2, mismatch repair system component gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1313536 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:16144131|PMID:16283678|PMID:18602922|PMID:19283792|PMID:20205264|PMID:21239990|PMID:21376568|PMID:22658618|PMID:23012243|PMID:24033266|PMID:24362816|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26895986|PMID:27273229|PMID:28492532|PMID:29489754|PMID:31433215|PMID:33753322|PMID:6144131 8749961 Sars1 seryl-tRNA synthetase 1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1348583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 8749961 Sars1 seryl-tRNA synthetase 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8749961 Sars1 seryl-tRNA synthetase 1 gene DOID:10286 prostate carcinoma ISO RGD:1348583 D RGD:9068941 20210212 RGD mRNA:decreased expression:prostate gland (human) PMID:26317032|REF_RGD_ID:41410436 8749961 Sars1 seryl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1348583 D RGD:9068941 20210212 RGD protein:missense mutation:CDS:p.D172N (human) PMID:28236339|REF_RGD_ID:41410435 8749961 Sars1 seryl-tRNA synthetase 1 gene DOID:12849 autistic disorder ISO RGD:1348583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8749961 Sars1 seryl-tRNA synthetase 1 gene DOID:3393 coronary artery disease ISO RGD:1348583 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8749961 Sars1 seryl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1348583 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749961 Sars1 seryl-tRNA synthetase 1 gene DOID:9005140 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES ISO RGD:1348583 D RGD:7240710 20190315 OMIM 8749961 Sars1 seryl-tRNA synthetase 1 gene DOID:9005140 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES ISO RGD:1348583 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, ataxia, and seizures | ClinVar Annotator: match by term: SARS1-related disorders PMID:25741868|PMID:28236339|PMID:34570399|PMID:35790048|PMID:36004946|PMID:36041817 8749961 Sars1 seryl-tRNA synthetase 1 gene DOID:9005811 HUPRA Syndrome ISO RGD:1348583 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME PMID:25741868|PMID:28492532 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:0060335 autosomal dominant sideroblastic anemia 4 ISO RGD:1323451 D RGD:7240710 20190315 OMIM 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:0060335 autosomal dominant sideroblastic anemia 4 ISO RGD:1323451 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 4 PMID:25741868|PMID:26491070|PMID:28492532|PMID:3653362 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1323451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:0080855 Parkinsonism ISO RGD:1311806 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:21542017|REF_RGD_ID:6784518 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1323451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:10652 Alzheimer's disease ISO RGD:1323451 D RGD:9068941 20200609 RGD PMID:17050040|REF_RGD_ID:10402560 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:10652 Alzheimer's disease ISO RGD:1323452 D RGD:9068941 20200609 RGD PMID:17050040|REF_RGD_ID:10402560 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:13141 uveitis ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565515 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:9068941 20200609 RGD DNA:mutation:cds:A>T476(human) PMID:20817635|REF_RGD_ID:6784528 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:19657588|REF_RGD_ID:6784529 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease ISO RGD:1323451 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:16565515|REF_RGD_ID:6784531 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:14330 Parkinson's disease disease_progression ISO RGD:1323451 D RGD:9068941 20200609 RGD PMID:18219256|REF_RGD_ID:6784530 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:2316 brain ischemia ISO RGD:1311806 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:7629893|REF_RGD_ID:6784525 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:417 autoimmune disease ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:4450 renal cell carcinoma ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:630 genetic disease ISO RGD:1323451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:7148 rheumatoid arthritis ISO RGD:1323451 D RGD:9068941 20200609 RGD protein:increased expression:synovial cell: PMID:23739258|REF_RGD_ID:10402561 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:8955 sideroblastic anemia ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:9005930 Endotoxemia ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:9006624 EVEN-PLUS SYNDROME ISO RGD:1323451 D RGD:7240710 20190315 OMIM 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:9006624 EVEN-PLUS SYNDROME ISO RGD:1323451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS | ClinVar Annotator: match by term: Even-plus syndrome PMID:25741868|PMID:26598328|PMID:28492532 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8749983 Hspa9 heat shock protein family A (Hsp70) member 9 gene DOID:9007102 Myocardial Ischemia ISO RGD:1323451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8750004 E4f1 E4F transcription factor 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348626 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 8750004 E4f1 E4F transcription factor 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 8750004 E4f1 E4F transcription factor 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8750004 E4f1 E4F transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1348626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8750004 E4f1 E4F transcription factor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8750004 E4f1 E4F transcription factor 1 gene DOID:2871 endometrial carcinoma ISO RGD:1348626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8750004 E4f1 E4F transcription factor 1 gene DOID:630 genetic disease ISO RGD:1348626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750004 E4f1 E4F transcription factor 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8750004 E4f1 E4F transcription factor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30506647 8750033 Ier5l immediate early response 5 like gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8750033 Ier5l immediate early response 5 like gene DOID:630 genetic disease ISO RGD:1349464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750039 Gfpt2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:630 genetic disease ISO RGD:1351553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750039 Gfpt2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1351553 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr PMID:14764791|REF_RGD_ID:2307362 8750039 Gfpt2 glutamine-fructose-6-phosphate transaminase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1351553 D RGD:9068941 20200609 RGD DNA:missense mutation, SNPs:exon, 3' utr:multiple PMID:14764791|REF_RGD_ID:2307362 8750062 Lsg1 large 60S subunit nuclear export GTPase 1 gene DOID:630 genetic disease ISO RGD:1605064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750062 Lsg1 large 60S subunit nuclear export GTPase 1 gene DOID:9000998 Brain Injuries ISO RGD:1605064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14499481 8750085 Mea1 male-enhanced antigen 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1346327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8750085 Mea1 male-enhanced antigen 1 gene DOID:0070065 autosomal dominant intellectual developmental disorder 35 ISO RGD:1346327 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30676711|PMID:32074998 8750085 Mea1 male-enhanced antigen 1 gene DOID:1059 intellectual disability ISO RGD:1346327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28492532|PMID:30676711|PMID:34906502 8750085 Mea1 male-enhanced antigen 1 gene DOID:1059 intellectual disability ISO RGD:1346327 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30676711|PMID:32074998 8750085 Mea1 male-enhanced antigen 1 gene DOID:630 genetic disease ISO RGD:1346327 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30676711|PMID:32074998 8750085 Mea1 male-enhanced antigen 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346327 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30676711|PMID:32074998 8750085 Mea1 male-enhanced antigen 1 gene DOID:905 Zellweger syndrome ISO RGD:1346327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8750099 Pcdh12 protocadherin 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8750099 Pcdh12 protocadherin 12 gene DOID:0111510 Marshall syndrome ISO RGD:1348823 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868|PMID:28492532 8750099 Pcdh12 protocadherin 12 gene DOID:630 genetic disease ISO RGD:1348823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28804758 8750099 Pcdh12 protocadherin 12 gene DOID:7765 Coats disease ISO RGD:1348823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:25741868|PMID:30459466 8750099 Pcdh12 protocadherin 12 gene DOID:9002171 Diencephalic-Mesencephalic Junction Dysplasia Syndromes ISO RGD:1348823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia PMID:22822038|PMID:25741868|PMID:30178464 8750099 Pcdh12 protocadherin 12 gene DOID:9002568 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 ISO RGD:1348823 D RGD:7240710 20191106 OMIM 8750099 Pcdh12 protocadherin 12 gene DOID:9002568 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 ISO RGD:1348823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 PMID:22822038|PMID:25741868|PMID:27164683|PMID:28492532|PMID:29556033|PMID:30178464|PMID:33527719|PMID:7774041 8750099 Pcdh12 protocadherin 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8750099 Pcdh12 protocadherin 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348823 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0050891 adrenal cortical adenoma ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma PMID:23416519 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0111558 Charcot-Marie-Tooth disease type 2DD ISO RGD:735332 D RGD:7240710 20190315 OMIM 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:0111558 Charcot-Marie-Tooth disease type 2DD ISO RGD:735332 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-marie-tooth disease, axonal, type 2DD PMID:21208200|PMID:21494555|PMID:25741868|PMID:28492532|PMID:29499166|PMID:30388404|PMID:31705535|PMID:31707753|PMID:7977350|PMID:8526465|PMID:8981948 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10003 sensorineural hearing loss ISO RGD:2167 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10283 prostate cancer ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10763 hypertension ISO RGD:2167 D RGD:9068941 20200609 RGD PMID:8082931|REF_RGD_ID:1579862 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:10763 hypertension ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:3426 vestibular disease ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21269433 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:446 primary hyperaldosteronism ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:5844 myocardial infarction ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29702141 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:630 genetic disease ISO RGD:735332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:657 adenoma ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519|PMID:23913004 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9004551 Charcot-Marie-Tooth Disease Type 2A2 ISO RGD:735332 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 PMID:21208200|PMID:21494555|PMID:25741868|PMID:28492532|PMID:29499166|PMID:30388404|PMID:31705535|PMID:31707753|PMID:7977350|PMID:8526465|PMID:8981948 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006615 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 ISO RGD:735332 D RGD:7240710 20190315 OMIM 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006615 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 ISO RGD:735332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 2 PMID:25741868|PMID:28492532|PMID:30388404 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29702141 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9008817 Transmissible Gastroenteritis, of Swine ISO RGD:735332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28438630 8750112 Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:2167 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:23467881|REF_RGD_ID:11576285 8750141 Tkt transketolase gene DOID:2384 Wernicke encephalopathy ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3762968 8750141 Tkt transketolase gene DOID:305 carcinoma ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8750141 Tkt transketolase gene DOID:630 genetic disease ISO RGD:732645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750141 Tkt transketolase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8750141 Tkt transketolase gene DOID:9002669 Hypoxia ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 8750141 Tkt transketolase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 8750141 Tkt transketolase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8750141 Tkt transketolase gene DOID:9008862 Short Stature, Developmental Delay, and Congenital Heart Defects ISO RGD:732645 D RGD:7240710 20190315 OMIM 8750141 Tkt transketolase gene DOID:9008862 Short Stature, Developmental Delay, and Congenital Heart Defects ISO RGD:732645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transketolase deficiency PMID:25741868|PMID:27259054|PMID:28492532 8750159 Mfsd9 major facilitator superfamily domain containing 9 gene DOID:630 genetic disease ISO RGD:1606209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750168 Rab11fip2 RAB11 family interacting protein 2 gene DOID:630 genetic disease ISO RGD:1344867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750177 Frat2 FRAT regulator of WNT signaling pathway 2 gene DOID:630 genetic disease ISO RGD:1350986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750188 Mlana melan-A gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1315192 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8750188 Mlana melan-A gene DOID:1790 malignant mesothelioma ISO RGD:1315192 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8750188 Mlana melan-A gene DOID:1909 melanoma ISO RGD:1315192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 8750188 Mlana melan-A gene DOID:2773 contact dermatitis ISO RGD:1315192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8750188 Mlana melan-A gene DOID:630 genetic disease ISO RGD:1315192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750188 Mlana melan-A gene DOID:9001834 Peritoneal Neoplasms ISO RGD:1315192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8750196 Dbx1 developing brain homeobox 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1605302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8750196 Dbx1 developing brain homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1605302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8750196 Dbx1 developing brain homeobox 1 gene DOID:630 genetic disease ISO RGD:1605302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750208 Ttf2 transcription termination factor 2 gene DOID:630 genetic disease ISO RGD:1319323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750247 Ctnnb1 catenin beta 1 gene DOID:0001816 angiosarcoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13678655 8750247 Ctnnb1 catenin beta 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8750247 Ctnnb1 catenin beta 1 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1550466 D RGD:9068941 20230511 MouseDO 8750247 Ctnnb1 catenin beta 1 gene DOID:0050746 mantle cell lymphoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 8750247 Ctnnb1 catenin beta 1 gene DOID:0050770 polycystic liver disease ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:28492532 8750247 Ctnnb1 catenin beta 1 gene DOID:0050868 hepatocellular adenoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 8750247 Ctnnb1 catenin beta 1 gene DOID:0050902 medulloblastoma ISO RGD:733705 D RGD:7240710 20190315 OMIM 8750247 Ctnnb1 catenin beta 1 gene DOID:0050902 medulloblastoma ISO RGD:733705 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23033978|PMID:23265383|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27915094|PMID:27959697|PMID:28333917|PMID:28492532|PMID:28575650|PMID:31526516|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1550466 D RGD:9068941 20220825 MouseDO 8750247 Ctnnb1 catenin beta 1 gene DOID:0070049 autosomal dominant intellectual developmental disorder 19 ISO RGD:733705 D RGD:7240710 20180130 OMIM 8750247 Ctnnb1 catenin beta 1 gene DOID:0070049 autosomal dominant intellectual developmental disorder 19 ISO RGD:733705 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CTNNB1-related syndromic intellectual disability | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS PMID:10966653|PMID:18414213|PMID:23033978|PMID:24033266|PMID:24614104|PMID:24668549|PMID:25326635|PMID:25326637|PMID:25326669|PMID:25741868|PMID:2614104|PMID:26350204|PMID:26502894|PMID:27848944|PMID:27915094|PMID:27959697|PMID:28191889|PMID:28330790|PMID:28333917|PMID:28492532|PMID:28514307|PMID:28575650|PMID:28856709|PMID:31526516|PMID:32369273|PMID:33004838|PMID:33350591|PMID:33475177|PMID:35099645 8750247 Ctnnb1 catenin beta 1 gene DOID:0080264 exudative vitreoretinopathy 7 ISO RGD:733705 D RGD:7240710 20190315 OMIM 8750247 Ctnnb1 catenin beta 1 gene DOID:0080264 exudative vitreoretinopathy 7 ISO RGD:733705 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 7 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 7 PMID:23033978|PMID:24614104|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:27959697|PMID:28333917|PMID:28492532|PMID:28575650|PMID:31526516 8750247 Ctnnb1 catenin beta 1 gene DOID:0080366 desmoid tumor ISO RGD:733705 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Desmoid tumor PMID:10398436|PMID:10435629|PMID:10655994|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8750247 Ctnnb1 catenin beta 1 gene DOID:0111349 hereditary desmoid disease ISO RGD:733705 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation PMID:10398436|PMID:10435629|PMID:10655994|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:28492532|PMID:28575650 8750247 Ctnnb1 catenin beta 1 gene DOID:0111535 progressive osseous heteroplasia ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 8750247 Ctnnb1 catenin beta 1 gene DOID:10283 prostate cancer ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25157968|PMID:26619011|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:10488 imperforate anus ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imperforate anus PMID:25741868 8750247 Ctnnb1 catenin beta 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:733705 D RGD:9068941 20220421 RGD mRNA:altered expression:stomach, tumor (human) PMID:29069277|REF_RGD_ID:151893464 8750247 Ctnnb1 catenin beta 1 gene DOID:1059 intellectual disability ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 8750247 Ctnnb1 catenin beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:decreased expression:nucleus: PMID:11226152|REF_RGD_ID:1302533 8750247 Ctnnb1 catenin beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:neuron,cytoplasm: PMID:15781969|REF_RGD_ID:10395258 8750247 Ctnnb1 catenin beta 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70487 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:12610652|REF_RGD_ID:10395276 8750247 Ctnnb1 catenin beta 1 gene DOID:11054 urinary bladder cancer ISO RGD:733705 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10192393|PMID:10666372|PMID:25157968|PMID:26619011|PMID:26822237 8750247 Ctnnb1 catenin beta 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:17175927|REF_RGD_ID:2289829 8750247 Ctnnb1 catenin beta 1 gene DOID:1107 esophageal carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210 8750247 Ctnnb1 catenin beta 1 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:increased phosphorylation:myocyte: PMID:14993121|REF_RGD_ID:1598718 8750247 Ctnnb1 catenin beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1550466 D RGD:9068941 20200609 RGD PMID:20376467|REF_RGD_ID:13524857 8750247 Ctnnb1 catenin beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8750247 Ctnnb1 catenin beta 1 gene DOID:1324 lung cancer treatment ISO RGD:733705 D RGD:9068941 20211210 RGD human cells in mouse model PMID:32051824|REF_RGD_ID:150530284 8750247 Ctnnb1 catenin beta 1 gene DOID:14566 disease of cellular proliferation ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968 8750247 Ctnnb1 catenin beta 1 gene DOID:1520 colon carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10192393|PMID:23033978|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27959697|PMID:28492532|PMID:28575650|PMID:9065402|PMID:9294210 8750247 Ctnnb1 catenin beta 1 gene DOID:1790 malignant mesothelioma ISO RGD:733705 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8750247 Ctnnb1 catenin beta 1 gene DOID:1793 pancreatic cancer ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18223216 8750247 Ctnnb1 catenin beta 1 gene DOID:182 calcinosis ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 8750247 Ctnnb1 catenin beta 1 gene DOID:1909 melanoma ISO RGD:733705 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:28492532|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:1911 endodermal sinus tumor ISO RGD:733705 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors PMID:16822086|REF_RGD_ID:2298800 8750247 Ctnnb1 catenin beta 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1550466 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 8750247 Ctnnb1 catenin beta 1 gene DOID:2043 hepatitis B ISO RGD:733705 D RGD:9068941 20210910 RGD associated with hepatocellular carcinoma;protein:increased expression:liver (human) PMID:25536643|REF_RGD_ID:150429591 8750247 Ctnnb1 catenin beta 1 gene DOID:2154 nephroblastoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:10027390|PMID:10435629|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403 8750247 Ctnnb1 catenin beta 1 gene DOID:234 colon adenocarcinoma ISO RGD:70487 D RGD:9068941 20200609 RGD DNA:mutation PMID:16886601|REF_RGD_ID:1599637 8750247 Ctnnb1 catenin beta 1 gene DOID:2394 ovarian cancer ISO RGD:733705 D RGD:7240710 20190213 OMIM 8750247 Ctnnb1 catenin beta 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:2671 transitional cell carcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10027390|PMID:10192393|PMID:10391090|PMID:10435629|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:16426728|PMID:17363521|REF_RGD_ID:2289818|REF_RGD_ID:2298486 8750247 Ctnnb1 catenin beta 1 gene DOID:289 endometriosis ISO RGD:733705 D RGD:9068941 20210910 RGD protein:increased expression:endometrium, epithelium, stroma (human) PMID:29462326|REF_RGD_ID:150429593 8750247 Ctnnb1 catenin beta 1 gene DOID:299 adenocarcinoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10965019|PMID:14507667|PMID:15459021 8750247 Ctnnb1 catenin beta 1 gene DOID:2999 granulosa cell tumor ISO RGD:1550466 D RGD:9068941 20200609 RGD PMID:16488995|REF_RGD_ID:1643593 8750247 Ctnnb1 catenin beta 1 gene DOID:2999 granulosa cell tumor ISO RGD:1550466 D RGD:9068941 20220825 MouseDO 8750247 Ctnnb1 catenin beta 1 gene DOID:3121 gallbladder cancer ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:10027390|PMID:10435629|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065403 8750247 Ctnnb1 catenin beta 1 gene DOID:3307 teratoma ISO RGD:733705 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors PMID:16822086|REF_RGD_ID:2298800 8750247 Ctnnb1 catenin beta 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17721269|REF_RGD_ID:2289814 8750247 Ctnnb1 catenin beta 1 gene DOID:363 uterine cancer ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma PMID:25157968|PMID:25741868|PMID:26619011 8750247 Ctnnb1 catenin beta 1 gene DOID:3840 craniopharyngioma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:10192393|PMID:23265383|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:3905 lung carcinoma disease_progression ISO RGD:70487 D RGD:9068941 20200609 RGD DNA, protein:mutations, increased expression:cytoplasm, nucleus:multiple PMID:17639448|REF_RGD_ID:2289843 8750247 Ctnnb1 catenin beta 1 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:27498289|REF_RGD_ID:13434929 8750247 Ctnnb1 catenin beta 1 gene DOID:3910 lung adenocarcinoma ISO RGD:733705 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733705 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065403|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 8750247 Ctnnb1 catenin beta 1 gene DOID:3969 thyroid gland papillary carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:29498921|REF_RGD_ID:13792558 8750247 Ctnnb1 catenin beta 1 gene DOID:4 disease ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disease PMID:10027390|PMID:10435629|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9065403 8750247 Ctnnb1 catenin beta 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:733705 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9294210|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26822237 8750247 Ctnnb1 catenin beta 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:15330191|REF_RGD_ID:2289794 8750247 Ctnnb1 catenin beta 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11831984|REF_RGD_ID:2289835 8750247 Ctnnb1 catenin beta 1 gene DOID:5015 fibrolamellar carcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:exon: PMID:19101982|REF_RGD_ID:14402052 8750247 Ctnnb1 catenin beta 1 gene DOID:5082 liver cirrhosis ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21047994 8750247 Ctnnb1 catenin beta 1 gene DOID:5374 pilomatrixoma ISO RGD:733705 D RGD:7240710 20180130 OMIM 8750247 Ctnnb1 catenin beta 1 gene DOID:5374 pilomatrixoma ISO RGD:733705 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma PMID:10027390|PMID:10192393|PMID:10391090|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23033978|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27915094|PMID:27959697|PMID:28333917|PMID:28492532|PMID:28575650|PMID:31526516|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10192393|PMID:23265383|PMID:25157968|PMID:26619011|PMID:26822237|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:630 genetic disease ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21903672|PMID:23033978|PMID:24614104|PMID:24728327|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:27915094|PMID:27959697|PMID:28191889|PMID:28330790|PMID:28492532|PMID:28575650|PMID:28856709|PMID:30640974|PMID:33004838|PMID:33350591 8750247 Ctnnb1 catenin beta 1 gene DOID:657 adenoma ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192|PMID:10965019 8750247 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733705 D RGD:7240710 20180130 OMIM 8750247 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:21903672|PMID:23033978|PMID:23265383|PMID:24614104|PMID:24728327|PMID:24788118|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:26619011|PMID:26822237|PMID:27915094|PMID:27959697|PMID:28492532|PMID:28575650|PMID:29682453|PMID:30640974|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733705 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10027390|PMID:10192393|PMID:10391090|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:21903672|PMID:23033978|PMID:23265383|PMID:24614104|PMID:24728327|PMID:24788118|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26502894|PMID:26619011|PMID:26822237|PMID:27915094|PMID:27959697|PMID:28333917|PMID:28492532|PMID:28575650|PMID:29682453|PMID:30640974|PMID:31526516|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733705 D RGD:9068941 20210910 RGD DNA:missense mutations:exon 3:multiple (human) PMID:27276713|REF_RGD_ID:150429592 8750247 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:733705 D RGD:9068941 20200609 RGD DNA:Mutations:exon: PMID:19101982|REF_RGD_ID:14402052 8750247 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733705 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic,DNA:SNP, haplotype: :rs3864004 (human) PMID:26968103|REF_RGD_ID:14402039 8750247 Ctnnb1 catenin beta 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733705 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNPs: :rs3864004,rs11564475(human) PMID:28328801|REF_RGD_ID:14402040 8750247 Ctnnb1 catenin beta 1 gene DOID:687 hepatoblastoma ISO RGD:733705 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:23265383|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:767 muscular atrophy ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18467435 8750247 Ctnnb1 catenin beta 1 gene DOID:8719 in situ carcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:9496256|REF_RGD_ID:2289836 8750247 Ctnnb1 catenin beta 1 gene DOID:8923 skin melanoma ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:23265383|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733705 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:decreased expression PMID:17908479|REF_RGD_ID:2289813 8750247 Ctnnb1 catenin beta 1 gene DOID:9000156 Metaplasia exacerbates ISO RGD:733705 D RGD:9068941 20210910 RGD associated with Helicobacter Infections;protein:increased expression:body stomach, stomach pyloric antrum, nucleus (human) PMID:19369517|REF_RGD_ID:150429594 8750247 Ctnnb1 catenin beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:10027390|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:25157968|PMID:26619011|PMID:9065403 8750247 Ctnnb1 catenin beta 1 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 8750247 Ctnnb1 catenin beta 1 gene DOID:9000784 Fibrosis ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8750247 Ctnnb1 catenin beta 1 gene DOID:9000918 Disease Progression ISO RGD:733705 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:27738331|PMID:29106415|PMID:34019859 8750247 Ctnnb1 catenin beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29106415 8750247 Ctnnb1 catenin beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733705 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18008331|REF_RGD_ID:2289488 8750247 Ctnnb1 catenin beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11280770|PMID:20118494|PMID:21147764 8750247 Ctnnb1 catenin beta 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8750247 Ctnnb1 catenin beta 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:28492532 8750247 Ctnnb1 catenin beta 1 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8750247 Ctnnb1 catenin beta 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:733705 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 8750247 Ctnnb1 catenin beta 1 gene DOID:9002245 Intestinal Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192 8750247 Ctnnb1 catenin beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD PMID:17638904|REF_RGD_ID:2289815 8750247 Ctnnb1 catenin beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17363566|PMID:29610475 8750247 Ctnnb1 catenin beta 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:70487 D RGD:9068941 20200609 RGD protein:increased expression:cartilage: PMID:22702043|REF_RGD_ID:10395278 8750247 Ctnnb1 catenin beta 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733705 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10027390|PMID:10192393|PMID:10391090|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:23033978|PMID:24614104|PMID:25157968|PMID:25326635|PMID:25326669|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26822237|PMID:27915094|PMID:27959697|PMID:28333917|PMID:28492532|PMID:28575650|PMID:31526516|PMID:9065403 8750247 Ctnnb1 catenin beta 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:15381903|REF_RGD_ID:2298487 8750247 Ctnnb1 catenin beta 1 gene DOID:9002801 Recurrence ISO RGD:733705 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34019859 8750247 Ctnnb1 catenin beta 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12628520|PMID:12800193|PMID:14507667|PMID:15459021|PMID:17404573|PMID:18283038|PMID:21081470|PMID:22323126|PMID:9515794 8750247 Ctnnb1 catenin beta 1 gene DOID:9002955 Nerve Degeneration ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12387456 8750247 Ctnnb1 catenin beta 1 gene DOID:9003291 Aggressive Fibromatosis ISO RGD:733705 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Aggressive fibromatosis PMID:10398436|PMID:10435629|PMID:10655994|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:10027390|PMID:10192393|PMID:10391090|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:19234609|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065403|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:9003694 Cecal Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 8750247 Ctnnb1 catenin beta 1 gene DOID:9004240 Phyllodes Tumor ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:12898599|REF_RGD_ID:2289832 8750247 Ctnnb1 catenin beta 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733705 D RGD:9068941 20200609 RGD DNA:mutations PMID:17418409|REF_RGD_ID:2289817 8750247 Ctnnb1 catenin beta 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, increased expression:uterus, nucleus PMID:17072826|REF_RGD_ID:2289830 8750247 Ctnnb1 catenin beta 1 gene DOID:9004307 Alazami Syndrome ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alazami syndrome PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 8750247 Ctnnb1 catenin beta 1 gene DOID:9004331 Parathyroid Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid gland neoplasm PMID:25157968|PMID:26619011|PMID:26822237 8750247 Ctnnb1 catenin beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 8750247 Ctnnb1 catenin beta 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:increased expression:cytosol: PMID:11517342|REF_RGD_ID:10395257 8750247 Ctnnb1 catenin beta 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:733705 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 8750247 Ctnnb1 catenin beta 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23707762|PMID:26990689 8750247 Ctnnb1 catenin beta 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8750247 Ctnnb1 catenin beta 1 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10965019|PMID:12351151|PMID:14507667 8750247 Ctnnb1 catenin beta 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372914 8750247 Ctnnb1 catenin beta 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.S33Y, p.S45F PMID:18060046|REF_RGD_ID:2289674 8750247 Ctnnb1 catenin beta 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1550466 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:17510243|REF_RGD_ID:2289816 8750247 Ctnnb1 catenin beta 1 gene DOID:9005446 Mandibular Neoplasms ISO RGD:70487 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine PMID:17259108|REF_RGD_ID:1599632 8750247 Ctnnb1 catenin beta 1 gene DOID:9005527 No-Reflow Phenomenon ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16824628 8750247 Ctnnb1 catenin beta 1 gene DOID:9005612 Endometrial Intraepithelial Neoplasia ISO RGD:733705 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Atypical endometrial hyperplasia PMID:10398436|PMID:10435629|PMID:10655994|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:9006205 Animal Disease Models ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8750247 Ctnnb1 catenin beta 1 gene DOID:9006332 Vascular Calcification ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23223575 8750247 Ctnnb1 catenin beta 1 gene DOID:9006534 Nervous System Malformations ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8750247 Ctnnb1 catenin beta 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:70487 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart PMID:25586361|REF_RGD_ID:13524855 8750247 Ctnnb1 catenin beta 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:733705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26822237 8750247 Ctnnb1 catenin beta 1 gene DOID:9007096 Stroke ISO RGD:733705 D RGD:9068941 20200609 RGD protein:increased phosphorylation, decreased expression:brain PMID:18241848|REF_RGD_ID:2289837 8750247 Ctnnb1 catenin beta 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8750247 Ctnnb1 catenin beta 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8750247 Ctnnb1 catenin beta 1 gene DOID:9007188 Liver Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10467420|PMID:21047994 8750247 Ctnnb1 catenin beta 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19679878 8750247 Ctnnb1 catenin beta 1 gene DOID:9007502 Brain Neoplasms ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:25157968|PMID:26619011|PMID:26822237 8750247 Ctnnb1 catenin beta 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 8750247 Ctnnb1 catenin beta 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22975441 8750247 Ctnnb1 catenin beta 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Endometrial neoplasm PMID:10192393|PMID:25157968|PMID:25741868|PMID:26619011|PMID:9065402|PMID:9294210 8750247 Ctnnb1 catenin beta 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:16803534|REF_RGD_ID:2298485 8750247 Ctnnb1 catenin beta 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27848944|PMID:27915094|PMID:28492532|PMID:28575650 8750247 Ctnnb1 catenin beta 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733705 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10027390|PMID:10192393|PMID:10398436|PMID:10435629|PMID:10655994|PMID:10666372|PMID:11351304|PMID:11930117|PMID:11950921|PMID:12124804|PMID:15133491|PMID:24788118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:9065402|PMID:9065403|PMID:9294210|PMID:9500465|PMID:9927029 8750247 Ctnnb1 catenin beta 1 gene DOID:9008582 Developmental Disease ISO RGD:733705 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650 8750247 Ctnnb1 catenin beta 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11262227 8750247 Ctnnb1 catenin beta 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12165863|PMID:25330770 8750247 Ctnnb1 catenin beta 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733705 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17223851|REF_RGD_ID:2289792 8750247 Ctnnb1 catenin beta 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:16707478|REF_RGD_ID:2289831 8750247 Ctnnb1 catenin beta 1 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:733705 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10192393|PMID:10666372|PMID:26619011|PMID:26822237 8750247 Ctnnb1 catenin beta 1 gene DOID:9256 colorectal cancer ISO RGD:733705 D RGD:7240710 20200226 OMIM 8750247 Ctnnb1 catenin beta 1 gene DOID:9256 colorectal cancer ISO RGD:733705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:28492532|PMID:28575650 8750247 Ctnnb1 catenin beta 1 gene DOID:9256 colorectal cancer ISO RGD:733705 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:23033978|PMID:25326669|PMID:25741868|PMID:28492532 8750247 Ctnnb1 catenin beta 1 gene DOID:9256 colorectal cancer ISO RGD:733705 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:23033978|PMID:24614104|PMID:25326669|PMID:25741868|PMID:26350204|PMID:27915094|PMID:28333917|PMID:28492532|PMID:28575650|PMID:31526516 8750247 Ctnnb1 catenin beta 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:70487 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm, nucleus PMID:17893236|REF_RGD_ID:2289840 8750247 Ctnnb1 catenin beta 1 gene DOID:9256 colorectal cancer treatment ISO RGD:733705 D RGD:9068941 20220728 RGD Human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 8750291 Skap1 src kinase associated phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:1354438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750291 Skap1 src kinase associated phosphoprotein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1354438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 8750318 Tax1bp1 Tax1 binding protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8750318 Tax1bp1 Tax1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1348047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750355 Rell1 RELT like 1 gene DOID:630 genetic disease ISO RGD:1625842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750355 Rell1 RELT like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1625842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8750369 S100a11 S100 calcium binding protein A11 gene DOID:0080600 COVID-19 ISO RGD:1323591 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8750369 S100a11 S100 calcium binding protein A11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8750369 S100a11 S100 calcium binding protein A11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8750369 S100a11 S100 calcium binding protein A11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8750369 S100a11 S100 calcium binding protein A11 gene DOID:1540 parathyroid carcinoma ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8750369 S100a11 S100 calcium binding protein A11 gene DOID:5812 MHC class II deficiency ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8750369 S100a11 S100 calcium binding protein A11 gene DOID:630 genetic disease ISO RGD:1323591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750369 S100a11 S100 calcium binding protein A11 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8750369 S100a11 S100 calcium binding protein A11 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 8750369 S100a11 S100 calcium binding protein A11 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8750369 S100a11 S100 calcium binding protein A11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1342489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23160955|PMID:25741868|PMID:28492532|PMID:30504930 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:0060261 congenital ptosis ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ptosis PMID:25741868|PMID:32267004 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:1059 intellectual disability ISO RGD:1342489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:12849 autistic disorder ISO RGD:1342489 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: CHD8-Related Disorder | ClinVar Annotator: match by term: CHD8-Related Disorders PMID:23160955|PMID:25741868|PMID:34088660 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:2030 anxiety disorder ISO RGD:1342489 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:35365720 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1342489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:630 genetic disease ISO RGD:1342489 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18378692|PMID:21447119|PMID:22083958|PMID:22495306|PMID:23160955|PMID:23835524|PMID:24267886|PMID:24998929|PMID:25741868|PMID:26789910|PMID:27824329|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28600779|PMID:31130284|PMID:31311581|PMID:31721432|PMID:32309624|PMID:32801363|PMID:32951261|PMID:33004838|PMID:33352116|PMID:9536098 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:77 gastrointestinal system disease ISO RGD:1342489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24998929 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9000443 Intellectual Developmental Disorder with Autism and Macrocephaly ISO RGD:1342489 D RGD:7240710 20220518 OMIM 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9000443 Intellectual Developmental Disorder with Autism and Macrocephaly ISO RGD:1342489 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CHD8-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with autism and macrocephaly PMID:18414213|PMID:22495309|PMID:23160955|PMID:24998929|PMID:25326635|PMID:25326637|PMID:25363760|PMID:25741868|PMID:25741869|PMID:26789910|PMID:27824329|PMID:27959697|PMID:28191890|PMID:28492532|PMID:28600779|PMID:28714951|PMID:29389947|PMID:30504930|PMID:30564305|PMID:30670789|PMID:31001818|PMID:31130284|PMID:31721432|PMID:31980904|PMID:31981491|PMID:32309624|PMID:32951261|PMID:33352116|PMID:34088660|PMID:34906502 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9001487 Facies ISO RGD:1342489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30670789 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9003816 Macrocephaly ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:32267004 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342489 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23160955|PMID:24998929|PMID:25741868|PMID:26789910|PMID:28492532|PMID:31001818|PMID:34088660 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1342489 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8750379 Chd8 chromodomain helicase DNA binding protein 8 gene DOID:9008582 Developmental Disease ISO RGD:1342489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8750443 Gclm glutamate-cysteine ligase modifier subunit gene DOID:10322 berylliosis ISO RGD:731551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16766924 8750443 Gclm glutamate-cysteine ligase modifier subunit gene DOID:5844 myocardial infarction ISO RGD:731551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12081989|PMID:12975258 8750443 Gclm glutamate-cysteine ligase modifier subunit gene DOID:5844 myocardial infarction susceptibility ISO RGD:731551 D RGD:7240710 20190502 OMIM 8750443 Gclm glutamate-cysteine ligase modifier subunit gene DOID:630 genetic disease ISO RGD:731551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750443 Gclm glutamate-cysteine ligase modifier subunit gene DOID:8725 vascular dementia susceptibility ISO RGD:731551 D RGD:9068941 20200609 RGD associated with stroke;DNA:polymorphism:promoter:-588C>T(human) PMID:17548779|REF_RGD_ID:10402374 8750443 Gclm glutamate-cysteine ligase modifier subunit gene DOID:9004303 Tubulointerstitial Fibrosis ISO RGD:619871 D RGD:9068941 20200609 RGD PMID:21152904|REF_RGD_ID:5134352 8750443 Gclm glutamate-cysteine ligase modifier subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8750443 Gclm glutamate-cysteine ligase modifier subunit gene DOID:9008691 Liver Injury ISO RGD:619871 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:24944771|REF_RGD_ID:10402380 8750443 Gclm glutamate-cysteine ligase modifier subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:731551 D RGD:9068941 20200910 CTD CTD Direct Evidence: therapeutic PMID:32715377 8750454 Spag17 sperm associated antigen 17 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1601710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 8750454 Spag17 sperm associated antigen 17 gene DOID:0112337 spermatogenic failure 55 ISO RGD:1601710 D RGD:7240710 20210707 OMIM 8750454 Spag17 sperm associated antigen 17 gene DOID:0112337 spermatogenic failure 55 ISO RGD:1601710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 55 PMID:28548327 8750454 Spag17 sperm associated antigen 17 gene DOID:630 genetic disease ISO RGD:1601710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750454 Spag17 sperm associated antigen 17 gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:1601710 D RGD:9068941 20200609 RGD DNA:snp:enhancer:C>G (rs17038182) (human) PMID:19893584|REF_RGD_ID:11535959 8750518 Msmo1 methylsterol monooxygenase 1 gene DOID:630 genetic disease ISO RGD:737148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21285510 8750518 Msmo1 methylsterol monooxygenase 1 gene DOID:9002853 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis ISO RGD:737148 D RGD:7240710 20190315 OMIM 8750518 Msmo1 methylsterol monooxygenase 1 gene DOID:9002853 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis ISO RGD:737148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis PMID:21285510|PMID:24144731 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:0050336 hypophosphatemia ISO RGD:733664 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:733664 D RGD:7240710 20180130 OMIM 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:733664 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked PMID:10439971|PMID:10737991|PMID:11004247|PMID:11468271|PMID:11502821|PMID:11502829|PMID:12414858|PMID:12727977|PMID:14564066|PMID:14564077|PMID:16055933|PMID:16199547|PMID:16303832|PMID:16636593|PMID:17576681|PMID:18162710|PMID:18252791|PMID:18625346|PMID:188828|PMID:19219621|PMID:19513579|PMID:21050253|PMID:21902834|PMID:21994957|PMID:22101457|PMID:22261628|PMID:22527485|PMID:22577109|PMID:22695891|PMID:23079138|PMID:23466123|PMID:24033266|PMID:24102521|PMID:24684036|PMID:24756041|PMID:24836714|PMID:24857004|PMID:24926462|PMID:25042154|PMID:25525159|PMID:25741868|PMID:25741895|PMID:25839938|PMID:2589938|PMID:26040324|PMID:26051471|PMID:26377240|PMID:26402641|PMID:26467025|PMID:26543054|PMID:26894575|PMID:27840894|PMID:28383812|PMID:28492532|PMID:28506344|PMID:28981921|PMID:29393334|PMID:29460029|PMID:29505567|PMID:29858904|PMID:29901142|PMID:30298485|PMID:30298486|PMID:30607568|PMID:30682568|PMID:30920082|PMID:31102713|PMID:31910300|PMID:32257293|PMID:32329911|PMID:32772199|PMID:33639975|PMID:33666701|PMID:3394683|PMID:34006472|PMID:34141703|PMID:34434907|PMID:34633109|PMID:34806794|PMID:35738466|PMID:35896147|PMID:36530187|PMID:36672821|PMID:7550339|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9536098|PMID:9768646|PMID:9768674 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:733664 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets PMID:10439971|PMID:14564066|PMID:14564077|PMID:16055933|PMID:19219621|PMID:21902834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32329911|PMID:9199930|PMID:9768674 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:10003 sensorineural hearing loss ISO RGD:11097 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:15029877|REF_RGD_ID:11556244 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:1074 kidney failure ISO RGD:3323 D RGD:9068941 20200609 RGD mRNA:increased expression:parathroid gland,tibia: PMID:14693675|REF_RGD_ID:11556273 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:10754 otitis media ISO RGD:11097 D RGD:9068941 20220825 MouseDO OMIM:166760 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:12679 nephrocalcinosis ISO RGD:733664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9430241 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:12849 autistic disorder ISO RGD:733664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:630 genetic disease ISO RGD:733664 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10737991|PMID:25741868|PMID:28492532 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:9000099 Experimental Colitis ISO RGD:11097 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone: PMID:16890604|REF_RGD_ID:11556253 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:9001197 Unilateral Deafness with Delayed Endolymphatic Hydrops ISO RGD:11097 D RGD:9068941 20200609 RGD DNA:mutation:cds: PMID:18289812|REF_RGD_ID:11556245 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:733664 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:10737991|PMID:11004247|PMID:11468271|PMID:12414858|PMID:12727977|PMID:16199547|PMID:18162710|PMID:18625346|PMID:19219621|PMID:22261628|PMID:22695891|PMID:23466123|PMID:24684036|PMID:24836714|PMID:25031893|PMID:25741868|PMID:25741895|PMID:26040324|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:29707405|PMID:29858904|PMID:30298486|PMID:30607568|PMID:30682568|PMID:35738466|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9768674 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:733664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets PMID:11468271|PMID:12727977|PMID:18625346|PMID:24684036|PMID:25741868|PMID:28492532|PMID:29858904|PMID:9097956|PMID:9199930 8750528 Phex phosphate regulating endopeptidase X-linked gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1962291 8750555 Kiaa1328 KIAA1328 ortholog gene DOID:1059 intellectual disability ISO RGD:1343837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8750555 Kiaa1328 KIAA1328 ortholog gene DOID:630 genetic disease ISO RGD:1343837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750588 Cep85 centrosomal protein 85 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1604312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8750588 Cep85 centrosomal protein 85 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1604312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8750588 Cep85 centrosomal protein 85 gene DOID:630 genetic disease ISO RGD:1604312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750609 Eya2 EYA transcriptional coactivator and phosphatase 2 gene DOID:2234 focal epilepsy ISO RGD:1350703 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8750609 Eya2 EYA transcriptional coactivator and phosphatase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8750609 Eya2 EYA transcriptional coactivator and phosphatase 2 gene DOID:630 genetic disease ISO RGD:1350703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8750635 Rhobtb2 Rho related BTB domain containing 2 gene DOID:0070375 developmental and epileptic encephalopathy 64 ISO RGD:1320529 D RGD:7240710 20190315 OMIM 8750635 Rhobtb2 Rho related BTB domain containing 2 gene DOID:0070375 developmental and epileptic encephalopathy 64 ISO RGD:1320529 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64 | ClinVar Annotator: match by term: RHOBTB2-related condition PMID:18298893|PMID:18835386|PMID:25741868|PMID:26740508|PMID:28492532|PMID:28518168|PMID:28856709|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32461654|PMID:32581362|PMID:33504645|PMID:33619735 8750635 Rhobtb2 Rho related BTB domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1320529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8750635 Rhobtb2 Rho related BTB domain containing 2 gene DOID:1206 Rett syndrome ISO RGD:1320529 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:18298893|PMID:25741868|PMID:28492532|PMID:29276004|PMID:29768694|PMID:31780880 8750635 Rhobtb2 Rho related BTB domain containing 2 gene DOID:1826 epilepsy ISO RGD:1320529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8750635 Rhobtb2 Rho related BTB domain containing 2 gene DOID:543 dystonia ISO RGD:1320529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:18835386|PMID:25741868|PMID:28492532|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:33504645 8750635 Rhobtb2 Rho related BTB domain containing 2 gene DOID:574 peripheral nervous system disease ISO RGD:1320529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 8750635 Rhobtb2 Rho related BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1320529 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18298893|PMID:18835386|PMID:25741868|PMID:26740508|PMID:28492532|PMID:28518168|PMID:28856709|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32461654|PMID:32581362|PMID:33504645 8750635 Rhobtb2 Rho related BTB domain containing 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1320529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8750651 Tmem185b transmembrane protein 185B gene DOID:630 genetic disease ISO RGD:1345380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750663 Scx scleraxis bHLH transcription factor gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1625822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8750663 Scx scleraxis bHLH transcription factor gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1625822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8750663 Scx scleraxis bHLH transcription factor gene DOID:4621 holoprosencephaly ISO RGD:1625822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8750663 Scx scleraxis bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1625822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750669 Elmo2 engulfment and cell motility 2 gene DOID:2234 focal epilepsy ISO RGD:1314023 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8750669 Elmo2 engulfment and cell motility 2 gene DOID:630 genetic disease ISO RGD:1314023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750669 Elmo2 engulfment and cell motility 2 gene DOID:9007873 Primary Intraosseous Vascular Malformation ISO RGD:1314023 D RGD:7240710 20190315 OMIM 8750669 Elmo2 engulfment and cell motility 2 gene DOID:9007873 Primary Intraosseous Vascular Malformation ISO RGD:1314023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular malformation, primary intraosseous PMID:11932989|PMID:25741868|PMID:27476657 8750703 Azi2 5-azacytidine induced 2 gene DOID:630 genetic disease ISO RGD:1605352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750732 BECN1 beclin 1 gene DOID:1440 Machado-Joseph disease ISO RGD:733440 D RGD:9068941 20200609 RGD protein:decreased expression:fibroblast PMID:21478185|REF_RGD_ID:6483072 8750732 Becn1 beclin 1 gene DOID:0080322 polycystic kidney disease ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex PMID:21270095|REF_RGD_ID:6483074 8750732 Becn1 beclin 1 gene DOID:0080322 polycystic kidney disease ISO RGD:736173 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex PMID:21270095|REF_RGD_ID:6483074 8750732 Becn1 beclin 1 gene DOID:0080855 Parkinsonism ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:19864570|REF_RGD_ID:6483312 8750732 Becn1 beclin 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:25424835|REF_RGD_ID:11558014 8750732 Becn1 beclin 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:21926933|REF_RGD_ID:6483068 8750732 Becn1 beclin 1 gene DOID:10652 Alzheimer's disease ISO RGD:733440 D RGD:9068941 20200609 RGD protein:decreased expression:gray matter PMID:18497889|REF_RGD_ID:6483101 8750732 Becn1 beclin 1 gene DOID:10652 Alzheimer's disease ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:20863706|REF_RGD_ID:6483102 8750732 Becn1 beclin 1 gene DOID:10763 hypertension ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:23499735|REF_RGD_ID:11561939 8750732 Becn1 beclin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733440 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:25209900|REF_RGD_ID:11558015 8750732 Becn1 beclin 1 gene DOID:12010 anterior ischemic optic neuropathy ISO RGD:620190 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:21490676|REF_RGD_ID:6483070 8750732 Becn1 beclin 1 gene DOID:12217 Lewy body dementia ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19628769 8750732 Becn1 beclin 1 gene DOID:1440 Machado-Joseph disease ISO RGD:736173 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:21478185|REF_RGD_ID:6483072 8750732 Becn1 beclin 1 gene DOID:1596 depressive disorder disease_progression ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:25386878|REF_RGD_ID:11561930 8750732 Becn1 beclin 1 gene DOID:1596 depressive disorder treatment ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:25386878|REF_RGD_ID:11561930 8750732 Becn1 beclin 1 gene DOID:1612 breast cancer disease_progression ISO RGD:733440 D RGD:9068941 20221103 RGD PMID:33292020|REF_RGD_ID:155641236 8750732 Becn1 beclin 1 gene DOID:1686 glaucoma ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:eye PMID:22476098|REF_RGD_ID:6483048 8750732 Becn1 beclin 1 gene DOID:1824 status epilepticus ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA:protein:increased expression PMID:19138675|REF_RGD_ID:6483096 8750732 Becn1 beclin 1 gene DOID:1824 status epilepticus ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138675 8750732 Becn1 beclin 1 gene DOID:1826 epilepsy ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hippocampus PMID:20838925|REF_RGD_ID:6483076 8750732 Becn1 beclin 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:22509406|REF_RGD_ID:11561910 8750732 Becn1 beclin 1 gene DOID:2316 brain ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:19574998|REF_RGD_ID:6483094 8750732 Becn1 beclin 1 gene DOID:2316 brain ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, frontal cortex PMID:17936001|REF_RGD_ID:6483313 8750732 Becn1 beclin 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:20863706|REF_RGD_ID:6483102 8750732 Becn1 beclin 1 gene DOID:326 ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:25435100|REF_RGD_ID:11561945 8750732 Becn1 beclin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736173 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:23851366|REF_RGD_ID:11561951 8750732 Becn1 beclin 1 gene DOID:3454 brain infarction ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22227058|REF_RGD_ID:6483057 8750732 Becn1 beclin 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:22108007|REF_RGD_ID:11561900 8750732 Becn1 beclin 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:22301112|REF_RGD_ID:11561943 8750732 Becn1 beclin 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:22301112|REF_RGD_ID:11561943 8750732 Becn1 beclin 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:30849962|REF_RGD_ID:14974231 8750732 Becn1 beclin 1 gene DOID:5082 liver cirrhosis ISO RGD:733440 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:22895779|REF_RGD_ID:11561934 8750732 Becn1 beclin 1 gene DOID:5199 ureteral obstruction ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:cortex of kidney PMID:23314838|REF_RGD_ID:11561927 8750732 Becn1 beclin 1 gene DOID:5419 schizophrenia ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:24365867|REF_RGD_ID:11561929 8750732 Becn1 beclin 1 gene DOID:5844 myocardial infarction ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079142 8750732 Becn1 beclin 1 gene DOID:5844 myocardial infarction treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:20079142|REF_RGD_ID:11561913 8750732 Becn1 beclin 1 gene DOID:6000 congestive heart failure treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:18619688|REF_RGD_ID:11560532 8750732 Becn1 beclin 1 gene DOID:607 paraplegia ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle PMID:23055316|REF_RGD_ID:11557990 8750732 Becn1 beclin 1 gene DOID:630 genetic disease ISO RGD:733440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750732 Becn1 beclin 1 gene DOID:646 viral encephalitis ISO RGD:733440 D RGD:9068941 20200609 RGD associated with HIV infections;protein:increased expression:brain PMID:21592995|REF_RGD_ID:6483316 8750732 Becn1 beclin 1 gene DOID:783 end stage renal disease ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:24090408|REF_RGD_ID:11561926 8750732 Becn1 beclin 1 gene DOID:8283 peritonitis ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression: PMID:22001349|REF_RGD_ID:6483066 8750732 Becn1 beclin 1 gene DOID:8398 osteoarthritis ISO RGD:733440 D RGD:9068941 20200609 RGD protein:decreased expression:cartilage PMID:20187128|REF_RGD_ID:6483317 8750732 Becn1 beclin 1 gene DOID:8398 osteoarthritis ISO RGD:736173 D RGD:9068941 20200609 RGD protein:decreased expression:cartilage PMID:20187128|REF_RGD_ID:6483317 8750732 Becn1 beclin 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:733440 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:20539009|REF_RGD_ID:6483081 8750732 Becn1 beclin 1 gene DOID:90 degenerative disc disease ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:intervertebral disc PMID:22835012|REF_RGD_ID:11561942 8750732 Becn1 beclin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24559459|REF_RGD_ID:11561918 8750732 Becn1 beclin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 8750732 Becn1 beclin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736173 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21806471|REF_RGD_ID:6483100 8750732 Becn1 beclin 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:23852559|REF_RGD_ID:11561922 8750732 Becn1 beclin 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24990154|REF_RGD_ID:11561988 8750732 Becn1 beclin 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22521819|REF_RGD_ID:6483046 8750732 Becn1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:24221859|REF_RGD_ID:11558018 8750732 Becn1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:neuron, astrocyte PMID:18500386|REF_RGD_ID:6483098 8750732 Becn1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:733440 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34929507 8750732 Becn1 beclin 1 gene DOID:9000998 Brain Injuries ISO RGD:736173 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16874043|REF_RGD_ID:6483314 8750732 Becn1 beclin 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:25374587|REF_RGD_ID:11561952 8750732 Becn1 beclin 1 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:736173 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 8750732 Becn1 beclin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:21866636|REF_RGD_ID:6483069 8750732 Becn1 beclin 1 gene DOID:9002211 Hyperalgesia ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:23665054|REF_RGD_ID:11560531 8750732 Becn1 beclin 1 gene DOID:9002514 Neointima ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:25238224|REF_RGD_ID:11558011 8750732 Becn1 beclin 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:basal ganglion PMID:23884876|REF_RGD_ID:11561935 8750732 Becn1 beclin 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20876807 8750732 Becn1 beclin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:lumbar spinal cord ventral horn PMID:21436843|REF_RGD_ID:5685686 8750732 Becn1 beclin 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25919564|REF_RGD_ID:11558017 8750732 Becn1 beclin 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:22449108|REF_RGD_ID:6483050 8750732 Becn1 beclin 1 gene DOID:9003936 Cardiomegaly ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle PMID:23326547|REF_RGD_ID:11561904 8750732 Becn1 beclin 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24998254|REF_RGD_ID:11561938 8750732 Becn1 beclin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22306244|REF_RGD_ID:6483054 8750732 Becn1 beclin 1 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:23589102|REF_RGD_ID:11561955 8750732 Becn1 beclin 1 gene DOID:9004649 Heat Stroke ISO RGD:620190 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:20823696|REF_RGD_ID:6483077 8750732 Becn1 beclin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733440 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22481206|PMID:23790316 8750732 Becn1 beclin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24993523|REF_RGD_ID:11557996 8750732 Becn1 beclin 1 gene DOID:9006008 Closed Head Injuries ISO RGD:736173 D RGD:9068941 20200609 RGD protein:increased expression:neuron PMID:16004578|REF_RGD_ID:6483315 8750732 Becn1 beclin 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:26412257|REF_RGD_ID:11561958 8750732 Becn1 beclin 1 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:620190 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cartilage tissue PMID:23386193|REF_RGD_ID:10041017 8750732 Becn1 beclin 1 gene DOID:9007090 Experimental Seizures treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:23994218|REF_RGD_ID:11561923 8750732 Becn1 beclin 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:22850625|REF_RGD_ID:11560530 8750732 Becn1 beclin 1 gene DOID:9007730 Burns ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:24730400|REF_RGD_ID:11561936 8750732 Becn1 beclin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736173 D RGD:9068941 20200609 RGD PMID:20812860|REF_RGD_ID:11561944 8750732 Becn1 beclin 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:20821058|REF_RGD_ID:11561911 8750732 Becn1 beclin 1 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:620190 D RGD:9068941 20200709 RGD PMID:31007149|REF_RGD_ID:34888237 8750732 Becn1 beclin 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736173 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8750732 Becn1 beclin 1 gene DOID:9206 Barrett's esophagus ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:22301112|REF_RGD_ID:11561943 8750732 Becn1 beclin 1 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:733440 D RGD:9068941 20200609 RGD PMID:22301112|REF_RGD_ID:11561943 8750732 Becn1 beclin 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620190 D RGD:9068941 20200609 RGD PMID:21820301|REF_RGD_ID:11561956 8750732 Becn1 beclin 1 gene DOID:9743 diabetic neuropathy treatment ISO RGD:620190 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:25824552|REF_RGD_ID:11561957 8750752 Rtp2 receptor transporter protein 2 gene DOID:5419 schizophrenia ISO RGD:1606102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8750752 Rtp2 receptor transporter protein 2 gene DOID:630 genetic disease ISO RGD:1606102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750762 Rbp1 retinol binding protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:732391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:28492532 8750762 Rbp1 retinol binding protein 1 gene DOID:305 carcinoma ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8750762 Rbp1 retinol binding protein 1 gene DOID:630 genetic disease ISO RGD:732391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8750762 Rbp1 retinol binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16134180|PMID:16367923 8750762 Rbp1 retinol binding protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8750762 Rbp1 retinol binding protein 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 8750762 Rbp1 retinol binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3543 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 8750762 Rbp1 retinol binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8750762 Rbp1 retinol binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8750762 Rbp1 retinol binding protein 1 gene DOID:9538 multiple myeloma disease_progression ISO RGD:732391 D RGD:9068941 20230928 RGD DNA:hypermethylation: : PMID:23699600|REF_RGD_ID:11073605 8750770 Prpf4 pre-mRNA splicing tri-snRNP complex factor PRPF4 gene DOID:0110392 retinitis pigmentosa 70 ISO RGD:1322687 D RGD:7240710 20180130 OMIM 8750770 Prpf4 pre-mRNA splicing tri-snRNP complex factor PRPF4 gene DOID:0110392 retinitis pigmentosa 70 ISO RGD:1322687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 70 PMID:17576681|PMID:24419317|PMID:25741868|PMID:28492532|PMID:8090199|PMID:9536098 8750770 Prpf4 pre-mRNA splicing tri-snRNP complex factor PRPF4 gene DOID:303 substance-related disorder ISO RGD:1322687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8750770 Prpf4 pre-mRNA splicing tri-snRNP complex factor PRPF4 gene DOID:630 genetic disease ISO RGD:1322687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24419317|PMID:25741868|PMID:28492532|PMID:8090199 8750770 Prpf4 pre-mRNA splicing tri-snRNP complex factor PRPF4 gene DOID:8501 fundus dystrophy ISO RGD:1322687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 8750803 Saxo2 stabilizer of axonemal microtubules 2 gene DOID:2717 Bloom syndrome ISO RGD:1606117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8750803 Saxo2 stabilizer of axonemal microtubules 2 gene DOID:630 genetic disease ISO RGD:1606117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750803 Saxo2 stabilizer of axonemal microtubules 2 gene DOID:9256 colorectal cancer ISO RGD:1606117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8750824 Trim46 tripartite motif containing 46 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8750824 Trim46 tripartite motif containing 46 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8750824 Trim46 tripartite motif containing 46 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8750824 Trim46 tripartite motif containing 46 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8750824 Trim46 tripartite motif containing 46 gene DOID:1540 parathyroid carcinoma ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8750824 Trim46 tripartite motif containing 46 gene DOID:5812 MHC class II deficiency ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8750824 Trim46 tripartite motif containing 46 gene DOID:630 genetic disease ISO RGD:1314352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750824 Trim46 tripartite motif containing 46 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8750881 Dpy19l3 dpy-19 like C-mannosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750916 Sost sclerostin gene DOID:0060251 sclerosteosis ISO RGD:737334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8750916 Sost sclerostin gene DOID:0060251 sclerosteosis ISO RGD:737334 D RGD:9068941 20200609 RGD DNA:transition: :69C>T (human) PMID:11179006|REF_RGD_ID:68858 8750916 Sost sclerostin gene DOID:0060756 sclerosteosis 1 ISO RGD:737334 D RGD:7240710 20180314 OMIM 8750916 Sost sclerostin gene DOID:0060756 sclerosteosis 1 ISO RGD:737334 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1 PMID:11179006|PMID:11181578|PMID:19072561|PMID:21221996|PMID:25741868|PMID:25984533|PMID:28492532 8750916 Sost sclerostin gene DOID:0080006 bone development disease ISO RGD:737334 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sclerosing Bone Dysplasias PMID:28492532 8750916 Sost sclerostin gene DOID:0080036 SOST-related sclerosing bone dysplasia ISO RGD:737335 D RGD:9068941 20230506 MouseDO OMIM:239100 8750916 Sost sclerostin gene DOID:0080807 autosomal dominant craniodiaphyseal dysplasia ISO RGD:737334 D RGD:7240710 20180130 OMIM 8750916 Sost sclerostin gene DOID:0080807 autosomal dominant craniodiaphyseal dysplasia ISO RGD:737334 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant PMID:17853455|PMID:21221996|PMID:25741868 8750916 Sost sclerostin gene DOID:630 genetic disease ISO RGD:737334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8750923 Mnt MAX network transcriptional repressor gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:1318598 D RGD:9068941 20220825 MouseDO OMIM:247200 8750923 Mnt MAX network transcriptional repressor gene DOID:630 genetic disease ISO RGD:1318597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750923 Mnt MAX network transcriptional repressor gene DOID:674 cleft palate ISO RGD:1318597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15028671 8750923 Mnt MAX network transcriptional repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8750923 Mnt MAX network transcriptional repressor gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1318597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15028671 8750923 Mnt MAX network transcriptional repressor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1318597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15028671 8750934 Tmem132d transmembrane protein 132D gene DOID:0060071 pre-malignant neoplasm ISO RGD:1606177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8750934 Tmem132d transmembrane protein 132D gene DOID:5409 lung small cell carcinoma ISO RGD:1606177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8750934 Tmem132d transmembrane protein 132D gene DOID:630 genetic disease ISO RGD:1606177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750934 Tmem132d transmembrane protein 132D gene DOID:9007188 Liver Neoplasms ISO RGD:1606177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8750954 Rpl38 ribosomal protein L38 gene DOID:10754 otitis media ISO RGD:1313683 D RGD:9068941 20220825 MouseDO OMIM:166760 8750965 Il18bp interleukin 18 binding protein gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1348622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 8750965 Il18bp interleukin 18 binding protein gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1348622 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute promyelocytic leukemia PMID:25741868|PMID:28492532 8750965 Il18bp interleukin 18 binding protein gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1348622 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8750965 Il18bp interleukin 18 binding protein gene DOID:1059 intellectual disability ISO RGD:1348622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8750965 Il18bp interleukin 18 binding protein gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1348622 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:15566508|REF_RGD_ID:14696666 8750965 Il18bp interleukin 18 binding protein gene DOID:1485 cystic fibrosis ISO RGD:1348622 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20026745|REF_RGD_ID:4889551 8750965 Il18bp interleukin 18 binding protein gene DOID:1884 viral hepatitis ISO RGD:1348622 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatitis, fulminant viral, susceptibility to PMID:25741868|PMID:28492532|PMID:31213488 8750965 Il18bp interleukin 18 binding protein gene DOID:2349 arteriosclerosis ISO RGD:1551696 D RGD:9068941 20200609 RGD PMID:11577031|REF_RGD_ID:4892618 8750965 Il18bp interleukin 18 binding protein gene DOID:3042 allergic contact dermatitis treatment ISO RGD:1348622 D RGD:9068941 20200609 RGD PMID:12874202|REF_RGD_ID:8655940 8750965 Il18bp interleukin 18 binding protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348622 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20026745|REF_RGD_ID:4889551 8750965 Il18bp interleukin 18 binding protein gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1348622 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:12462332|REF_RGD_ID:14695542 8750965 Il18bp interleukin 18 binding protein gene DOID:5844 myocardial infarction ISO RGD:1348622 D RGD:9068941 20200609 RGD PMID:19805173|REF_RGD_ID:4889400 8750965 Il18bp interleukin 18 binding protein gene DOID:630 genetic disease ISO RGD:1348622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8750965 Il18bp interleukin 18 binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8750965 Il18bp interleukin 18 binding protein gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620042 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:25919765|REF_RGD_ID:14696667 8750965 Il18bp interleukin 18 binding protein gene DOID:9004283 Transplant Rejection ISO RGD:620042 D RGD:9068941 20200609 RGD PMID:21962809|REF_RGD_ID:8655943 8750965 Il18bp interleukin 18 binding protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620042 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18959458|REF_RGD_ID:2313895 8750965 Il18bp interleukin 18 binding protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1348622 D RGD:9068941 20200609 RGD PMID:19805173|REF_RGD_ID:4889400 8750965 Il18bp interleukin 18 binding protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1551696 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19164288|REF_RGD_ID:4889578 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:0060340 ciliopathy ISO RGD:1322950 D RGD:9068941 20220825 MouseDO 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1322949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1322950 D RGD:9068941 20220825 MouseDO OMIM:243180 | OMIM:601223 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:0080600 COVID-19 ISO RGD:1322949 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1322949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3 PMID:25741868|PMID:25741914|PMID:25782674 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:2986 IgA glomerulonephritis susceptibility ISO RGD:1322949 D RGD:7240710 20190502 OMIM 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:630 genetic disease ISO RGD:1322949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:674 cleft palate ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17576140 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:850 lung disease ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24210189 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15136453 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17576140 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:9164 achalasia ISO RGD:1322950 D RGD:9068941 20220825 MouseDO OMIM:200400 8750985 Spry2 sprouty RTK signaling antagonist 2 gene DOID:9296 cleft lip ISO RGD:1322949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17576140 8750992 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1349188 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma PMID:29417556 8750992 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:0080600 COVID-19 ISO RGD:1349188 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33639165 8750992 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:10763 hypertension treatment ISO RGD:621870 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8750992 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:630 genetic disease ISO RGD:1349188 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8750992 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:9001488 Human Influenza ISO RGD:1349188 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33639165 8750992 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8750992 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:621870 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8750992 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:9003936 Cardiomegaly treatment ISO RGD:621870 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8750992 Ugcg UDP-glucose ceramide glucosyltransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:1349188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8751005 Nme9 NME/NM23 family member 9 gene DOID:630 genetic disease ISO RGD:1351445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751024 Ing2 inhibitor of growth family member 2 gene DOID:630 genetic disease ISO RGD:1348017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751030 Odaph odontogenesis associated phosphoprotein gene DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 ISO RGD:1604986 D RGD:7240710 20180130 OMIM 8751030 Odaph odontogenesis associated phosphoprotein gene DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 ISO RGD:1604986 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA4 PMID:22901946|PMID:25741868 8751030 Odaph odontogenesis associated phosphoprotein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1604986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8751044 Ranbp9 RAN binding protein 9 gene DOID:630 genetic disease ISO RGD:1344686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751071 Isy1 ISY1 splicing factor homolog gene DOID:0111947 immunodeficiency 21 ISO RGD:1606526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8751071 Isy1 ISY1 splicing factor homolog gene DOID:630 genetic disease ISO RGD:1606526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751071 Isy1 ISY1 splicing factor homolog gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1606526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8751071 Isy1 ISY1 splicing factor homolog gene DOID:9270 alkaptonuria ISO RGD:1606526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8751086 Eif6 eukaryotic translation initiation factor 6 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1313362 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex PMID:25741868 8751086 Eif6 eukaryotic translation initiation factor 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8751086 Eif6 eukaryotic translation initiation factor 6 gene DOID:630 genetic disease ISO RGD:1313362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751086 Eif6 eukaryotic translation initiation factor 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1313362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 8751103 Bbox1 gamma-butyrobetaine hydroxylase 1 gene DOID:1059 intellectual disability ISO RGD:732171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8751103 Bbox1 gamma-butyrobetaine hydroxylase 1 gene DOID:630 genetic disease ISO RGD:732171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751103 Bbox1 gamma-butyrobetaine hydroxylase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8751134 Slc12a4 solute carrier family 12 member 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8751134 Slc12a4 solute carrier family 12 member 4 gene DOID:1391 Norum disease ISO RGD:736767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency PMID:1571050|PMID:15994445|PMID:1662503|PMID:21875686|PMID:21901787|PMID:22189200|PMID:24636183|PMID:24715031|PMID:25727495|PMID:25741868|PMID:26195816|PMID:28492532|PMID:29030428|PMID:30333156|PMID:33816482|PMID:7613477|PMID:9541390|PMID:9741700 8751134 Slc12a4 solute carrier family 12 member 4 gene DOID:630 genetic disease ISO RGD:736767 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8751177 Scaper S-phase cyclin A associated protein in the ER gene DOID:0050572 cone-rod dystrophy ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:28794130 8751177 Scaper S-phase cyclin A associated protein in the ER gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1345518 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 8751177 Scaper S-phase cyclin A associated protein in the ER gene DOID:10584 retinitis pigmentosa ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic retinitis pigmentosa PMID:28794130|PMID:32214227 8751177 Scaper S-phase cyclin A associated protein in the ER gene DOID:1059 intellectual disability ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:28794130 8751177 Scaper S-phase cyclin A associated protein in the ER gene DOID:2717 Bloom syndrome ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8751177 Scaper S-phase cyclin A associated protein in the ER gene DOID:5419 schizophrenia ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8751177 Scaper S-phase cyclin A associated protein in the ER gene DOID:630 genetic disease ISO RGD:1345518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8751177 Scaper S-phase cyclin A associated protein in the ER gene DOID:9001917 INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA ISO RGD:1345518 D RGD:7240710 20200115 OMIM 8751177 Scaper S-phase cyclin A associated protein in the ER gene DOID:9001917 INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA ISO RGD:1345518 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA PMID:25741868|PMID:28492532|PMID:28794130|PMID:32214227 8751177 Scaper S-phase cyclin A associated protein in the ER gene DOID:9256 colorectal cancer ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8751177 Scaper S-phase cyclin A associated protein in the ER gene DOID:9970 obesity ISO RGD:1345518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:30723319 8751217 Colec11 collectin subfamily member 11 gene DOID:0060575 3MC syndrome 1 ISO RGD:1320152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 8751217 Colec11 collectin subfamily member 11 gene DOID:0060576 3MC syndrome 2 ISO RGD:1320152 D RGD:7240710 20180130 OMIM 8751217 Colec11 collectin subfamily member 11 gene DOID:0060576 3MC syndrome 2 ISO RGD:1320152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3MC syndrome 2 PMID:21258343|PMID:2569826|PMID:25741868|PMID:28301481|PMID:28492532|PMID:8933348 8751217 Colec11 collectin subfamily member 11 gene DOID:0060577 3MC syndrome 3 ISO RGD:1320152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 8751217 Colec11 collectin subfamily member 11 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1320152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 8751217 Colec11 collectin subfamily member 11 gene DOID:10123 pigmentation disease ISO RGD:1320152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 8751217 Colec11 collectin subfamily member 11 gene DOID:630 genetic disease ISO RGD:1320152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8751217 Colec11 collectin subfamily member 11 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 8751228 Atoh8 atonal bHLH transcription factor 8 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1350083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8751228 Atoh8 atonal bHLH transcription factor 8 gene DOID:630 genetic disease ISO RGD:1350083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751228 Atoh8 atonal bHLH transcription factor 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8751234 Itga7 integrin subunit alpha 7 gene DOID:0050700 cardiomyopathy treatment ISO RGD:71022 D RGD:9068941 20200609 RGD PMID:15632017|REF_RGD_ID:13601980 8751234 Itga7 integrin subunit alpha 7 gene DOID:0080000 muscular disease ISO RGD:734343 D RGD:9068941 20200609 RGD PMID:9590299|REF_RGD_ID:1600024 8751234 Itga7 integrin subunit alpha 7 gene DOID:0080600 COVID-19 ISO RGD:734343 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8751234 Itga7 integrin subunit alpha 7 gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:734343 D RGD:7240710 20180130 OMIM 8751234 Itga7 integrin subunit alpha 7 gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:734343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related | ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency | ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency PMID:12057917|PMID:16199547|PMID:17576681|PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:31785789|PMID:9536098|PMID:9590299 8751234 Itga7 integrin subunit alpha 7 gene DOID:11723 Duchenne muscular dystrophy treatment ISO RGD:734343 D RGD:9068941 20200609 RGD PMID:23319059|REF_RGD_ID:13601981 8751234 Itga7 integrin subunit alpha 7 gene DOID:2349 arteriosclerosis ISO RGD:71022 D RGD:9068941 20200609 RGD Atherogenesis PMID:14988073|REF_RGD_ID:1600025 8751234 Itga7 integrin subunit alpha 7 gene DOID:630 genetic disease ISO RGD:734343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8751234 Itga7 integrin subunit alpha 7 gene DOID:9002928 Colonic Neoplasms ISO RGD:734343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8751269 Rbm41 RNA binding motif protein 41 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1605361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8751269 Rbm41 RNA binding motif protein 41 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8751269 Rbm41 RNA binding motif protein 41 gene DOID:12849 autistic disorder ISO RGD:1605361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8751269 Rbm41 RNA binding motif protein 41 gene DOID:630 genetic disease ISO RGD:1605361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751282 Itfg2 integrin alpha FG-GAP repeat containing 2 gene DOID:630 genetic disease ISO RGD:1603635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751282 Itfg2 integrin alpha FG-GAP repeat containing 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8751346 Cib1 calcium and integrin binding 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:732228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8751346 Cib1 calcium and integrin binding 1 gene DOID:10652 Alzheimer's disease ISO RGD:620133 D RGD:9068941 20200609 RGD protein:decreased expression:brain (human) PMID:15885068|REF_RGD_ID:10401854 8751346 Cib1 calcium and integrin binding 1 gene DOID:12858 Huntington's disease ISO RGD:732229 D RGD:9068941 20200609 RGD mRNA:increased expression:head of caudate nucleus (mouse) PMID:24324398|REF_RGD_ID:10401859 8751346 Cib1 calcium and integrin binding 1 gene DOID:2717 Bloom syndrome ISO RGD:732228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8751346 Cib1 calcium and integrin binding 1 gene DOID:630 genetic disease ISO RGD:732228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8751346 Cib1 calcium and integrin binding 1 gene DOID:9006571 Epidermodysplasia Verruciformis 3 ISO RGD:732228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 PMID:19702156|PMID:20982046|PMID:21196704|PMID:228581|PMID:28492532|PMID:28646613|PMID:30068544 8751346 Cib1 calcium and integrin binding 1 gene DOID:9006571 Epidermodysplasia Verruciformis 3 susceptibility ISO RGD:732228 D RGD:7240710 20240320 OMIM 8751346 Cib1 calcium and integrin binding 1 gene DOID:9256 colorectal cancer ISO RGD:732228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8751367 Nudt12 nudix hydrolase 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8751367 Nudt12 nudix hydrolase 12 gene DOID:630 genetic disease ISO RGD:1322074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751367 Nudt12 nudix hydrolase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8751367 Nudt12 nudix hydrolase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8751388 Rxra retinoid X receptor alpha gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8751388 Rxra retinoid X receptor alpha gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8751388 Rxra retinoid X receptor alpha gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8751388 Rxra retinoid X receptor alpha gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736929 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8751388 Rxra retinoid X receptor alpha gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8751388 Rxra retinoid X receptor alpha gene DOID:0081097 Rafiq syndrome ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8751388 Rxra retinoid X receptor alpha gene DOID:11446 sciatic neuropathy ISO RGD:736929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782282 8751388 Rxra retinoid X receptor alpha gene DOID:12935 alcoholic cardiomyopathy ISO RGD:3610 D RGD:9068941 20200609 RGD PMID:19791468|REF_RGD_ID:2317465 8751388 Rxra retinoid X receptor alpha gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8751388 Rxra retinoid X receptor alpha gene DOID:1682 congenital heart disease ISO RGD:11250 D RGD:9068941 20220825 MouseDO 8751388 Rxra retinoid X receptor alpha gene DOID:1790 malignant mesothelioma ISO RGD:736929 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8751388 Rxra retinoid X receptor alpha gene DOID:1793 pancreatic cancer ISO RGD:736929 D RGD:9068941 20200609 RGD PMID:19152448|REF_RGD_ID:2317462 8751388 Rxra retinoid X receptor alpha gene DOID:2671 transitional cell carcinoma ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 8751388 Rxra retinoid X receptor alpha gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:736929 D RGD:9068941 20200609 RGD PMID:19396032|REF_RGD_ID:2317461 8751388 Rxra retinoid X receptor alpha gene DOID:3652 Leigh disease ISO RGD:736929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8751388 Rxra retinoid X receptor alpha gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 8751388 Rxra retinoid X receptor alpha gene DOID:630 genetic disease ISO RGD:736929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751388 Rxra retinoid X receptor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 8751388 Rxra retinoid X receptor alpha gene DOID:8634 prostate carcinoma in situ ISO RGD:3610 D RGD:9068941 20200609 RGD protein:decreased expression:prostate PMID:15318950|REF_RGD_ID:1643115 8751388 Rxra retinoid X receptor alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:3610 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:15318950|REF_RGD_ID:1643115 8751388 Rxra retinoid X receptor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736929 D RGD:9068941 20200609 RGD PMID:15566521|REF_RGD_ID:1643114 8751388 Rxra retinoid X receptor alpha gene DOID:9001579 Neurogenic Inflammation ISO RGD:3610 D RGD:9068941 20200609 RGD protein:increased expression:macrophage PMID:16782282|REF_RGD_ID:1643108 8751388 Rxra retinoid X receptor alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3610 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:17786350|REF_RGD_ID:1643105 8751388 Rxra retinoid X receptor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:3610 D RGD:9068941 20200609 RGD protein:decreased expression:prostate PMID:15318950|REF_RGD_ID:1643115 8751388 Rxra retinoid X receptor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:736929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15318950 8751388 Rxra retinoid X receptor alpha gene DOID:9002498 Wallerian Degeneration ISO RGD:3610 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve PMID:16782282|REF_RGD_ID:1643108 8751388 Rxra retinoid X receptor alpha gene DOID:9004484 Sepsis ISO RGD:3610 D RGD:9068941 20200609 RGD protein:altered localization:liver PMID:19008781|REF_RGD_ID:2317466 8751388 Rxra retinoid X receptor alpha gene DOID:9004484 Sepsis ISO RGD:3610 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17483744|REF_RGD_ID:1643106 8751388 Rxra retinoid X receptor alpha gene DOID:9004547 Thyroid Neoplasms ISO RGD:736929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 8751388 Rxra retinoid X receptor alpha gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3610 D RGD:9068941 20200609 RGD PMID:16344269|REF_RGD_ID:1643109 8751388 Rxra retinoid X receptor alpha gene DOID:9009073 Diaphragmatic Hernia ISO RGD:3610 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17270546|REF_RGD_ID:1643107 8751388 Rxra retinoid X receptor alpha gene DOID:9074 systemic lupus erythematosus ISO RGD:11250 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8751388 Rxra retinoid X receptor alpha gene DOID:9538 multiple myeloma ISO RGD:736929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8751388 Rxra retinoid X receptor alpha gene DOID:9970 obesity susceptibility ISO RGD:11250 D RGD:9068941 20200609 RGD PMID:15936932|REF_RGD_ID:1643104 8751408 Vnn1 vanin 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17145956 8751408 Vnn1 vanin 1 gene DOID:10608 celiac disease ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8751408 Vnn1 vanin 1 gene DOID:3310 atopic dermatitis ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 8751408 Vnn1 vanin 1 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1320770 D RGD:9068941 20220303 RGD protein:increased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 8751408 Vnn1 vanin 1 gene DOID:630 genetic disease ISO RGD:1320770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751408 Vnn1 vanin 1 gene DOID:8893 psoriasis ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19322213 8751408 Vnn1 vanin 1 gene DOID:9003370 Dyslipidemias ISO RGD:1320770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17873875 8751419 Jade3 jade family PHD finger 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8751419 Jade3 jade family PHD finger 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1344107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8751419 Jade3 jade family PHD finger 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1344107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 8751419 Jade3 jade family PHD finger 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1344107 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8751419 Jade3 jade family PHD finger 3 gene DOID:12849 autistic disorder ISO RGD:1344107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8751419 Jade3 jade family PHD finger 3 gene DOID:630 genetic disease ISO RGD:1344107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751419 Jade3 jade family PHD finger 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8751440 Runx2 RUNX family transcription factor 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:735753 D RGD:9068941 20220825 MouseDO 8751440 Runx2 RUNX family transcription factor 2 gene DOID:0060001 withdrawal disorder ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 8751440 Runx2 RUNX family transcription factor 2 gene DOID:0080395 orofacial cleft 1 ISO RGD:1348975 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Orofacial cleft 1 PMID:25741868 8751440 Runx2 RUNX family transcription factor 2 gene DOID:0081025 retinal cone dystrophy 3A ISO RGD:1348975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 3A PMID:15629837 8751440 Runx2 RUNX family transcription factor 2 gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome ISO RGD:1348975 D RGD:7240710 20180130 OMIM 8751440 Runx2 RUNX family transcription factor 2 gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome ISO RGD:1348975 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition PMID:10521292|PMID:11857736|PMID:16140555|PMID:20376792|PMID:23290074|PMID:25741868|PMID:28492532|PMID:29891876 8751440 Runx2 RUNX family transcription factor 2 gene DOID:1184 nephrotic syndrome ISO RGD:1348975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 8751440 Runx2 RUNX family transcription factor 2 gene DOID:13994 cleidocranial dysplasia ISO RGD:1348975 D RGD:7240710 20180130 OMIM 8751440 Runx2 RUNX family transcription factor 2 gene DOID:13994 cleidocranial dysplasia ISO RGD:1348975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly PMID:10521292|PMID:10545612|PMID:10980549|PMID:11768584|PMID:11857736|PMID:12081718|PMID:12196916|PMID:12424590|PMID:15629837|PMID:15952089|PMID:16221346|PMID:19515746|PMID:19767586|PMID:20648631|PMID:20702542|PMID:21734816|PMID:22023169|PMID:23290074|PMID:24138303|PMID:24222232|PMID:24634175|PMID:25741868|PMID:26380986|PMID:27993330|PMID:28056872|PMID:28492532|PMID:28505335|PMID:28738062|PMID:29891876|PMID:30391578|PMID:31548836|PMID:32360898|PMID:33987976|PMID:9182765|PMID:9207800 8751440 Runx2 RUNX family transcription factor 2 gene DOID:3347 osteosarcoma ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24646477|PMID:25307878 8751440 Runx2 RUNX family transcription factor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348975 D RGD:9068941 20210409 RGD mRNA:increased expression:esophagus mucosa PMID:18500170|REF_RGD_ID:126779568 8751440 Runx2 RUNX family transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348975 D RGD:9068941 20220623 RGD human cells in mouse model PMID:30780105|REF_RGD_ID:152995466 8751440 Runx2 RUNX family transcription factor 2 gene DOID:4676 uremia ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 8751440 Runx2 RUNX family transcription factor 2 gene DOID:630 genetic disease ISO RGD:1348975 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521292|PMID:20648631|PMID:25741868|PMID:28492532 8751440 Runx2 RUNX family transcription factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 8751440 Runx2 RUNX family transcription factor 2 gene DOID:8398 osteoarthritis ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9000380 Spondylarthritis ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9002589 Bone Fractures ISO RGD:2282 D RGD:9068941 20200609 RGD PMID:21252473|REF_RGD_ID:11252151 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9003295 Heterotopic Ossification ISO RGD:2282 D RGD:9068941 20200609 RGD PMID:19940863|REF_RGD_ID:12880052 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9004912 Hyperoxaluria ISO RGD:2282 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:26122267|REF_RGD_ID:11251713 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9006733 Stomatognathic System Abnormalities ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357738 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9008 psoriatic arthritis ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1348975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688224 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1348975 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:32198086 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:1348975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688224 8751440 Runx2 RUNX family transcription factor 2 gene DOID:9256 colorectal cancer ISO RGD:1348975 D RGD:9068941 20210409 RGD PMID:25925209|REF_RGD_ID:126779569 8751490 Shroom2 shroom family member 2 gene DOID:12849 autistic disorder ISO RGD:1343092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8751490 Shroom2 shroom family member 2 gene DOID:630 genetic disease ISO RGD:1343092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751490 Shroom2 shroom family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8751490 Shroom2 shroom family member 2 gene DOID:9849 Meniere's disease ISO RGD:1343092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25741868 8751525 Ciao2b cytosolic iron-sulfur assembly component 2B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8751525 Ciao2b cytosolic iron-sulfur assembly component 2B gene DOID:0110255 cataract 5 multiple types ISO RGD:1602116 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8751525 Ciao2b cytosolic iron-sulfur assembly component 2B gene DOID:630 genetic disease ISO RGD:1602116 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751534 Espnl espin like gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1602816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8751534 Espnl espin like gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1602816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8751534 Espnl espin like gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1602816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8751534 Espnl espin like gene DOID:1059 intellectual disability ISO RGD:1602816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8751534 Espnl espin like gene DOID:630 genetic disease ISO RGD:1602816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751534 Espnl espin like gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1602816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8751547 Ccdc170 coiled-coil domain containing 170 gene DOID:630 genetic disease ISO RGD:1322133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751547 Ccdc170 coiled-coil domain containing 170 gene DOID:9002239 Estrogen Resistance ISO RGD:1322133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Estrogen resistance syndrome PMID:33116287 8751576 Nudt18 nudix hydrolase 18 gene DOID:630 genetic disease ISO RGD:1605623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751576 Nudt18 nudix hydrolase 18 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8751594 E2f8 E2F transcription factor 8 gene DOID:1059 intellectual disability ISO RGD:1605946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8751594 E2f8 E2F transcription factor 8 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 8751594 E2f8 E2F transcription factor 8 gene DOID:630 genetic disease ISO RGD:1605946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751594 E2f8 E2F transcription factor 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1605946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8751594 E2f8 E2F transcription factor 8 gene DOID:9000918 Disease Progression ISO RGD:1605946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 8751594 E2f8 E2F transcription factor 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27683099 8751627 Mfrp membrane frizzled-related protein gene DOID:0060017 CD3epsilon deficiency ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8751627 Mfrp membrane frizzled-related protein gene DOID:0060835 isolated microphthalmia 6 ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:19169412|PMID:25741868|PMID:28492532 8751627 Mfrp membrane frizzled-related protein gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316695 D RGD:7240710 20180130 OMIM 8751627 Mfrp membrane frizzled-related protein gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316695 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen PMID:12140190|PMID:1258954|PMID:15976030|PMID:16199547|PMID:17167404|PMID:17576681|PMID:18554571|PMID:18648522|PMID:19169412|PMID:19753314|PMID:20361016|PMID:21670352|PMID:22142163|PMID:22605927|PMID:22892318|PMID:23112574|PMID:23127749|PMID:23143909|PMID:23742260|PMID:24088041|PMID:24531000|PMID:25097241|PMID:25412400|PMID:25741868|PMID:26583794|PMID:26633545|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29170418|PMID:29450879|PMID:30181649|PMID:30653986|PMID:31106028|PMID:31992737|PMID:32052405|PMID:32118495|PMID:32703043|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 8751627 Mfrp membrane frizzled-related protein gene DOID:0060869 late-onset retinal degeneration ISO RGD:1316695 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration | ClinVar Annotator: match by term: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:18648522|PMID:19169412|PMID:20361016|PMID:22142163|PMID:22892318|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28939808|PMID:29847639|PMID:33203948|PMID:33949280 8751627 Mfrp membrane frizzled-related protein gene DOID:0080634 nanophthalmos ISO RGD:1316695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nanophthalmia PMID:25412400|PMID:25741868|PMID:26583794|PMID:28492532|PMID:29170418|PMID:30181649 8751627 Mfrp membrane frizzled-related protein gene DOID:0080690 RASopathy ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8751627 Mfrp membrane frizzled-related protein gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8751627 Mfrp membrane frizzled-related protein gene DOID:0111971 immunodeficiency 18 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8751627 Mfrp membrane frizzled-related protein gene DOID:0111972 immunodeficiency 19 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8751627 Mfrp membrane frizzled-related protein gene DOID:0111973 immunodeficiency 17 ISO RGD:1316695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8751627 Mfrp membrane frizzled-related protein gene DOID:10584 retinitis pigmentosa ISO RGD:1316695 D RGD:9068941 20200609 RGD DNA:deletio:exon:c.498delC(P.166PfsX26)(human) PMID:22605927|REF_RGD_ID:11553921 8751627 Mfrp membrane frizzled-related protein gene DOID:10629 microphthalmia ISO RGD:1316695 D RGD:9068941 20200609 RGD DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human) PMID:23742260|REF_RGD_ID:11553922 8751627 Mfrp membrane frizzled-related protein gene DOID:11105 fundus albipunctatus ISO RGD:1620492 D RGD:9068941 20220825 MouseDO OMIM:136880 8751627 Mfrp membrane frizzled-related protein gene DOID:5419 schizophrenia ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8751627 Mfrp membrane frizzled-related protein gene DOID:630 genetic disease ISO RGD:1316695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8751627 Mfrp membrane frizzled-related protein gene DOID:8466 retinal degeneration ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:18648522|PMID:19169412|PMID:22892318|PMID:24531000|PMID:25741868|PMID:28492532 8751627 Mfrp membrane frizzled-related protein gene DOID:8466 retinal degeneration treatment ISO RGD:1620492 D RGD:9068941 20200609 RGD PMID:22142163|REF_RGD_ID:11553878 8751627 Mfrp membrane frizzled-related protein gene DOID:8501 fundus dystrophy ISO RGD:1316695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:20361016|PMID:22142163|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28939808|PMID:29847639|PMID:31992737|PMID:32036094 8751627 Mfrp membrane frizzled-related protein gene DOID:9002122 Nanophthalmos 2 ISO RGD:1316695 D RGD:7240710 20180130 OMIM 8751627 Mfrp membrane frizzled-related protein gene DOID:9002122 Nanophthalmos 2 ISO RGD:1316695 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nanophthalmos 2 PMID:12140190|PMID:1258954|PMID:15976030|PMID:17167404|PMID:18554571|PMID:19753314|PMID:20361016|PMID:22605927|PMID:23112574|PMID:23143909|PMID:25741868|PMID:28492532|PMID:32996714 8751627 Mfrp membrane frizzled-related protein gene DOID:9002594 High Hyperopia ISO RGD:1316695 D RGD:9068941 20200609 RGD DNA:missense, deletion, duplication mutations:cds: PMID:26583794|REF_RGD_ID:11076374 8751627 Mfrp membrane frizzled-related protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8751627 Mfrp membrane frizzled-related protein gene DOID:9007661 Dwarfism ISO RGD:1316695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8751649 Srsf11 serine and arginine rich splicing factor 11 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343968 D RGD:9068941 20200609 RGD mRNA:splice variant:bone marrow, hematopoietic stem cell (human) PMID:24244432|REF_RGD_ID:11038800 8751649 Srsf11 serine and arginine rich splicing factor 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1343968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8751649 Srsf11 serine and arginine rich splicing factor 11 gene DOID:1059 intellectual disability ISO RGD:1343968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8751649 Srsf11 serine and arginine rich splicing factor 11 gene DOID:630 genetic disease ISO RGD:1343968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751678 Slc25a31 solute carrier family 25 member 31 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1606496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 8751678 Slc25a31 solute carrier family 25 member 31 gene DOID:630 genetic disease ISO RGD:1606496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751688 Kiaa1191 KIAA1191 ortholog gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8751688 Kiaa1191 KIAA1191 ortholog gene DOID:14748 Sotos syndrome ISO RGD:1601743 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8751688 Kiaa1191 KIAA1191 ortholog gene DOID:630 genetic disease ISO RGD:1601743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751711 Taf7 TATA-box binding protein associated factor 7 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1320545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8751711 Taf7 TATA-box binding protein associated factor 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8751711 Taf7 TATA-box binding protein associated factor 7 gene DOID:630 genetic disease ISO RGD:1320545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751711 Taf7 TATA-box binding protein associated factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8751711 Taf7 TATA-box binding protein associated factor 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8751739 Best4 bestrophin 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8751739 Best4 bestrophin 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1344321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8751739 Best4 bestrophin 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8751739 Best4 bestrophin 4 gene DOID:630 genetic disease ISO RGD:1344321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751752 Kcnrg potassium channel regulator gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8751752 Kcnrg potassium channel regulator gene DOID:1059 intellectual disability ISO RGD:1316250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8751752 Kcnrg potassium channel regulator gene DOID:630 genetic disease ISO RGD:1316250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751773 Mrpl47 mitochondrial ribosomal protein L47 gene DOID:0111546 Currarino syndrome ISO RGD:1316780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8751773 Mrpl47 mitochondrial ribosomal protein L47 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1316780 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 8751773 Mrpl47 mitochondrial ribosomal protein L47 gene DOID:630 genetic disease ISO RGD:1316780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751788 Slc22a14 solute carrier family 22 member 14 gene DOID:0050451 Brugada syndrome ISO RGD:1315106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 8751788 Slc22a14 solute carrier family 22 member 14 gene DOID:630 genetic disease ISO RGD:1315106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751788 Slc22a14 solute carrier family 22 member 14 gene DOID:9001436 Immunodeficiency 68 ISO RGD:1315106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 8751788 Slc22a14 solute carrier family 22 member 14 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1315106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8751807 Grpel1 GrpE like 1, mitochondrial gene DOID:3525 middle cerebral artery infarction ISO RGD:70947 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12505684|REF_RGD_ID:632868 8751807 Grpel1 GrpE like 1, mitochondrial gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8751807 Grpel1 GrpE like 1, mitochondrial gene DOID:630 genetic disease ISO RGD:1345534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751822 Cmklr2 chemerin chemokine-like receptor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:732710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8751822 Cmklr2 chemerin chemokine-like receptor 2 gene DOID:630 genetic disease ISO RGD:732710 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751822 Cmklr2 chemerin chemokine-like receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:68584 D RGD:9068941 20200609 RGD DNA:amplification: (human) PMID:17289873|REF_RGD_ID:9693694 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:1059 intellectual disability ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:23020937|PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:1059 intellectual disability ISO RGD:68584 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:32581362|PMID:32860008 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:1826 epilepsy ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:23020937|PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:3347 osteosarcoma ISO RGD:68584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248279 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:4450 renal cell carcinoma ISO RGD:68584 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:18777199|REF_RGD_ID:9693695 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:630 genetic disease ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23020937|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:27516594|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008|PMID:33619735 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68584 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:17022810|REF_RGD_ID:9693723 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9002680 Zimmermann-Laband Syndrome 1 ISO RGD:68584 D RGD:7240710 20191113 OMIM 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9002680 Zimmermann-Laband Syndrome 1 ISO RGD:68584 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KCNH1-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 PMID:18541964|PMID:20683999|PMID:23020937|PMID:23994350|PMID:24357613|PMID:25420144|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:27267311|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008|PMID:33619735 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9004260 Zimmerman Laband Syndrome ISO RGD:68584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laband syndrome PMID:23020937|PMID:25741868|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9007410 Temple-Baraitser syndrome ISO RGD:68584 D RGD:7240710 20180130 OMIM 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9007410 Temple-Baraitser syndrome ISO RGD:68584 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: KCNH1 associated disorder | ClinVar Annotator: match by term: Temple-Baraitser syndrome PMID:18203178|PMID:20683999|PMID:23020937|PMID:24357613|PMID:25420144|PMID:25741868|PMID:25915598|PMID:26264464|PMID:26818738|PMID:28492532|PMID:28628100|PMID:32581362|PMID:32860008|PMID:33619735|PMID:36285361 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9008582 Developmental Disease ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:68584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520698 8751829 Kcnh1 potassium voltage-gated channel subfamily H member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8751857 Crebbp CREB binding protein gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:619552 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:24755471|PMID:28481359|PMID:30239046|PMID:33323405 8751857 Crebbp CREB binding protein gene DOID:0050873 follicular lymphoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 8751857 Crebbp CREB binding protein gene DOID:0050902 medulloblastoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 8751857 Crebbp CREB binding protein gene DOID:0050908 myelodysplastic syndrome ISO RGD:619553 D RGD:9068941 20220825 MouseDO OMIM:614286 8751857 Crebbp CREB binding protein gene DOID:0060041 autism spectrum disorder ISO RGD:619553 D RGD:9068941 20220825 MouseDO 8751857 Crebbp CREB binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8751857 Crebbp CREB binding protein gene DOID:0060249 scoliosis ISO RGD:619552 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Scoliosis 8751857 Crebbp CREB binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 8751857 Crebbp CREB binding protein gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:619552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8751857 Crebbp CREB binding protein gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8751857 Crebbp CREB binding protein gene DOID:10487 Hirschsprung's disease ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 8751857 Crebbp CREB binding protein gene DOID:1059 intellectual disability ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12566391|PMID:16359492|PMID:18414213|PMID:18792986|PMID:20684013|PMID:24088041|PMID:25388907|PMID:25741868|PMID:26633545|PMID:27311832|PMID:28492532|PMID:29460469 8751857 Crebbp CREB binding protein gene DOID:10591 pre-eclampsia ISO RGD:619552 D RGD:9068941 20220915 RGD mRNA:decreased expression:placenta (human) PMID:33625689|REF_RGD_ID:153350159 8751857 Crebbp CREB binding protein gene DOID:10652 Alzheimer's disease treatment ISO RGD:619553 D RGD:9068941 20200609 RGD PMID:21149712|REF_RGD_ID:10059608 8751857 Crebbp CREB binding protein gene DOID:10652 Alzheimer's disease treatment ISO RGD:619553 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus: PMID:17760871|REF_RGD_ID:10059609 8751857 Crebbp CREB binding protein gene DOID:11054 urinary bladder cancer ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 8751857 Crebbp CREB binding protein gene DOID:12858 Huntington's disease ISO RGD:619552 D RGD:9068941 20200609 RGD PMID:11264541|REF_RGD_ID:13432093 8751857 Crebbp CREB binding protein gene DOID:12858 Huntington's disease ISO RGD:619553 D RGD:9068941 20200609 RGD PMID:11264541|REF_RGD_ID:13432093 8751857 Crebbp CREB binding protein gene DOID:12858 Huntington's disease disease_progression ISO RGD:619553 D RGD:9068941 20200609 RGD PMID:20448484|REF_RGD_ID:13432094 8751857 Crebbp CREB binding protein gene DOID:12858 Huntington's disease treatment ISO RGD:619553 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:19291221|REF_RGD_ID:10059583 8751857 Crebbp CREB binding protein gene DOID:1574 alcohol use disorder ISO RGD:2401 D RGD:9068941 20231214 RGD mRNA, protein:decreased expression:amygdala PMID:29991681|REF_RGD_ID:401938626 8751857 Crebbp CREB binding protein gene DOID:1686 glaucoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868 8751857 Crebbp CREB binding protein gene DOID:1749 squamous cell carcinoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 8751857 Crebbp CREB binding protein gene DOID:1826 epilepsy ISO RGD:619552 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8751857 Crebbp CREB binding protein gene DOID:1827 idiopathic generalized epilepsy ISO RGD:619552 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8751857 Crebbp CREB binding protein gene DOID:1882 atrial heart septal defect ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392 8751857 Crebbp CREB binding protein gene DOID:1909 melanoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 8751857 Crebbp CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:7240710 20180130 OMIM 8751857 Crebbp CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17855048|PMID:18414213|PMID:18792986|PMID:20583168|PMID:20684013|PMID:21390126|PMID:21680795|PMID:21796119|PMID:22591219|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28707430|PMID:28970362|PMID:29460469|PMID:29551561|PMID:33560380|PMID:7630403|PMID:8967953 8751857 Crebbp CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17855048|PMID:18414213|PMID:18792986|PMID:20583168|PMID:20684013|PMID:21390126|PMID:21680795|PMID:21796119|PMID:22591219|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28707430|PMID:28970362|PMID:29460469|PMID:29551561|PMID:32170002|PMID:32827181|PMID:33560380|PMID:7630403|PMID:8967953 8751857 Crebbp CREB binding protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:619552 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17576681|PMID:17855048|PMID:17942008|PMID:18414213|PMID:18688873|PMID:18792986|PMID:19833603|PMID:19852432|PMID:20358623|PMID:20583168|PMID:20684013|PMID:20689175|PMID:21302340|PMID:21390126|PMID:21680795|PMID:21796119|PMID:21932317|PMID:21984751|PMID:22307725|PMID:22591219|PMID:22664659|PMID:22832583|PMID:23063576|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25108505|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:26788536|PMID:26956253|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28600779|PMID:28970362|PMID:29132461|PMID:29460469|PMID:29551561|PMID:30587507|PMID:30755392|PMID:31566936|PMID:31637876|PMID:31981491|PMID:32170002|PMID:32386048|PMID:32594341|PMID:32827181|PMID:33502061|PMID:33560380|PMID:33747050|PMID:7630403|PMID:8967953|PMID:9536098 8751857 Crebbp CREB binding protein gene DOID:2671 transitional cell carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 8751857 Crebbp CREB binding protein gene DOID:3068 glioblastoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 8751857 Crebbp CREB binding protein gene DOID:3307 teratoma ISO RGD:619552 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8751857 Crebbp CREB binding protein gene DOID:3717 gastric adenocarcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 8751857 Crebbp CREB binding protein gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8751857 Crebbp CREB binding protein gene DOID:3907 lung squamous cell carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 8751857 Crebbp CREB binding protein gene DOID:3910 lung adenocarcinoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 8751857 Crebbp CREB binding protein gene DOID:5409 lung small cell carcinoma ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 8751857 Crebbp CREB binding protein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 8751857 Crebbp CREB binding protein gene DOID:630 genetic disease ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11023789|PMID:12070251|PMID:12114483|PMID:12566391|PMID:16021471|PMID:16359492|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19651603|PMID:20684013|PMID:20689175|PMID:22591219|PMID:23651431|PMID:23934153|PMID:24521098|PMID:24728327|PMID:25388907|PMID:25741868|PMID:25741869|PMID:28492532|PMID:34516402|PMID:9215639|PMID:9536098 8751857 Crebbp CREB binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 8751857 Crebbp CREB binding protein gene DOID:8541 Sezary's disease ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8751857 Crebbp CREB binding protein gene DOID:8923 skin melanoma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 8751857 Crebbp CREB binding protein gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:619552 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:25741868 8751857 Crebbp CREB binding protein gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:619552 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:12070251|PMID:12114483|PMID:16359492|PMID:17052327|PMID:20689175|PMID:25741868|PMID:32170002|PMID:32827181 8751857 Crebbp CREB binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:619552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378487|PMID:25735316 8751857 Crebbp CREB binding protein gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 8751857 Crebbp CREB binding protein gene DOID:9003748 Thumb Deformity ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thumb deformity PMID:25741868 8751857 Crebbp CREB binding protein gene DOID:9003837 Au-Kline Syndrome ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki-like syndrome PMID:25741868 8751857 Crebbp CREB binding protein gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:619552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:28492532 8751857 Crebbp CREB binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8751857 Crebbp CREB binding protein gene DOID:9006534 Nervous System Malformations ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12566391|PMID:16359492|PMID:18414213|PMID:18792986|PMID:25388907|PMID:25741868 8751857 Crebbp CREB binding protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8751857 Crebbp CREB binding protein gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:619553 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 8751857 Crebbp CREB binding protein gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2401 D RGD:9068941 20220915 RGD PMID:24338162|REF_RGD_ID:153352322 8751857 Crebbp CREB binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:619552 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8751857 Crebbp CREB binding protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380 8751857 Crebbp CREB binding protein gene DOID:9008706 Menke-Hennekam Syndrome ISO RGD:619552 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814 8751857 Crebbp CREB binding protein gene DOID:9008974 Menke-Hennekam Syndrome 1 ISO RGD:619552 D RGD:7240710 20190315 OMIM 8751857 Crebbp CREB binding protein gene DOID:9008974 Menke-Hennekam Syndrome 1 ISO RGD:619552 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 PMID:11023789|PMID:12114483|PMID:12566391|PMID:16359492|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19651603|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25741868|PMID:25741869|PMID:26633545|PMID:27311832|PMID:28492532|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:32827181|PMID:9215639|PMID:9536098 8751857 Crebbp CREB binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:619552 D RGD:9068941 20200609 RGD DNA:translocations:intron:IVS2 (human) PMID:12461753|REF_RGD_ID:734819 8751857 Crebbp CREB binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:619553 D RGD:9068941 20220825 MouseDO OMIM:601626 8751857 Crebbp CREB binding protein gene DOID:9538 multiple myeloma ISO RGD:619552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8751857 Crebbp CREB binding protein gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:619552 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:25917266|REF_RGD_ID:11060149 8751904 Kdm4d lysine demethylase 4D gene DOID:1059 intellectual disability ISO RGD:1353550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8751904 Kdm4d lysine demethylase 4D gene DOID:12704 ataxia telangiectasia ISO RGD:1353550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8751904 Kdm4d lysine demethylase 4D gene DOID:2154 nephroblastoma ISO RGD:1353550 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (human) PMID:24219278|REF_RGD_ID:9588525 8751904 Kdm4d lysine demethylase 4D gene DOID:630 genetic disease ISO RGD:1353550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8751981 Kremen1 kringle containing transmembrane protein 1 gene DOID:0111252 vestibular schwannomatosis ISO RGD:733267 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8751981 Kremen1 kringle containing transmembrane protein 1 gene DOID:0111650 ectodermal dysplasia 13 ISO RGD:733267 D RGD:7240710 20190315 OMIM 8751981 Kremen1 kringle containing transmembrane protein 1 gene DOID:0111650 ectodermal dysplasia 13 ISO RGD:733267 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type PMID:25741868|PMID:27049303|PMID:28492532 8751981 Kremen1 kringle containing transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:733267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8751981 Kremen1 kringle containing transmembrane protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8751996 Serpinb7 serpin family B member 7 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:736732 D RGD:9068941 20200609 RGD PMID:16782060|REF_RGD_ID:7207386 8751996 Serpinb7 serpin family B member 7 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736732 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8751996 Serpinb7 serpin family B member 7 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:736732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8751996 Serpinb7 serpin family B member 7 gene DOID:10952 nephritis ISO RGD:71063 D RGD:9068941 20200609 RGD PMID:11473647|REF_RGD_ID:70611 8751996 Serpinb7 serpin family B member 7 gene DOID:2986 IgA glomerulonephritis ISO RGD:736732 D RGD:9068941 20200609 RGD DNA:SNP:5' utr, exon:267G>A (human) PMID:16796905|REF_RGD_ID:7207380 8751996 Serpinb7 serpin family B member 7 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736732 D RGD:9068941 20200609 RGD DNA:SNP: :23167A>G (human) PMID:16550745|REF_RGD_ID:7207372 8751996 Serpinb7 serpin family B member 7 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736732 D RGD:9068941 20200609 RGD DNA:SNPs:3' utr:2093C>T, 2180C>T (human) PMID:18793525|REF_RGD_ID:7207366 8751996 Serpinb7 serpin family B member 7 gene DOID:630 genetic disease ISO RGD:736732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8751996 Serpinb7 serpin family B member 7 gene DOID:9000205 Palmoplantar Keratoderma, Nagashima Type ISO RGD:736732 D RGD:7240710 20180130 OMIM 8751996 Serpinb7 serpin family B member 7 gene DOID:9000205 Palmoplantar Keratoderma, Nagashima Type ISO RGD:736732 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, Nagashima type | ClinVar Annotator: match by term: SERPINB7-related condition PMID:24207119|PMID:24514002|PMID:24773080|PMID:25741868|PMID:27543371|PMID:27569382|PMID:27666198|PMID:28439958|PMID:28492532|PMID:30256384 8751996 Serpinb7 serpin family B member 7 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736732 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:16443768|REF_RGD_ID:7207374 8751996 Serpinb7 serpin family B member 7 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736732 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:intron:rs1720843 (human) PMID:19690890|REF_RGD_ID:7207378 8752015 Cachd1 cache domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1605969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8752015 Cachd1 cache domain containing 1 gene DOID:630 genetic disease ISO RGD:1605969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752051 Smurf2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1552490 D RGD:9068941 20220825 MouseDO 8752051 Smurf2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1345810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 8752051 Smurf2 SMAD specific E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1345810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752072 Atp6v0e1 ATPase H+ transporting V0 subunit e1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1350958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8752072 Atp6v0e1 ATPase H+ transporting V0 subunit e1 gene DOID:10652 Alzheimer's disease ISO RGD:1553358 D RGD:9068941 20200609 RGD PMID:23211594|REF_RGD_ID:10401913 8752072 Atp6v0e1 ATPase H+ transporting V0 subunit e1 gene DOID:630 genetic disease ISO RGD:1350958 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752072 Atp6v0e1 ATPase H+ transporting V0 subunit e1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1350958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8752080 Ssx2ip SSX family member 2 interacting protein gene DOID:630 genetic disease ISO RGD:736522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752111 Fut7 fucosyltransferase 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8752111 Fut7 fucosyltransferase 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1353646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8752111 Fut7 fucosyltransferase 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8752111 Fut7 fucosyltransferase 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8752111 Fut7 fucosyltransferase 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8752111 Fut7 fucosyltransferase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8752111 Fut7 fucosyltransferase 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8752111 Fut7 fucosyltransferase 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8752111 Fut7 fucosyltransferase 7 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1353646 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8752111 Fut7 fucosyltransferase 7 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8752111 Fut7 fucosyltransferase 7 gene DOID:1826 epilepsy ISO RGD:1353646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8752111 Fut7 fucosyltransferase 7 gene DOID:3652 Leigh disease ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8752111 Fut7 fucosyltransferase 7 gene DOID:630 genetic disease ISO RGD:1353646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752111 Fut7 fucosyltransferase 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8752126 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:10283 prostate cancer ISO RGD:1349110 D RGD:9068941 20200609 RGD PMID:19176382|REF_RGD_ID:13838848 8752126 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1349110 D RGD:9068941 20200609 RGD PMID:26464646|REF_RGD_ID:11526681 8752126 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:630 genetic disease ISO RGD:1349110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752126 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:6846 familial melanoma ISO RGD:1349110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8752126 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9007090 Experimental Seizures ISO RGD:1619007 D RGD:9068941 20200609 RGD PMID:21925531|REF_RGD_ID:13838850 8752126 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9008023 Memory Disorders ISO RGD:1619007 D RGD:9068941 20200609 RGD PMID:21632930|REF_RGD_ID:13838852 8752126 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1619007 D RGD:9068941 20200609 RGD PMID:20068140|REF_RGD_ID:13838849 8752126 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 gene DOID:9970 obesity ISO RGD:1619007 D RGD:9068941 20200609 RGD PMID:20068140|REF_RGD_ID:13838849 8752163 Syt17 synaptotagmin 17 gene DOID:630 genetic disease ISO RGD:734045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752185 Aox1 aldehyde oxidase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733539 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8752185 Aox1 aldehyde oxidase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733539 D RGD:9068941 20200609 RGD PMID:7570184|REF_RGD_ID:734575 8752185 Aox1 aldehyde oxidase 1 gene DOID:630 genetic disease ISO RGD:733539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752185 Aox1 aldehyde oxidase 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8752185 Aox1 aldehyde oxidase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8752185 Aox1 aldehyde oxidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8752185 Aox1 aldehyde oxidase 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:733539 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8752239 Mtnr1b melatonin receptor 1B gene DOID:0060041 autism spectrum disorder ISO RGD:736711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 8752239 Mtnr1b melatonin receptor 1B gene DOID:1059 intellectual disability ISO RGD:736711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8752239 Mtnr1b melatonin receptor 1B gene DOID:11612 polycystic ovary syndrome ISO RGD:736711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20207350 8752239 Mtnr1b melatonin receptor 1B gene DOID:2913 acute pancreatitis ISO RGD:620798 D RGD:9068941 20200609 RGD PMID:12510864|REF_RGD_ID:9588676 8752239 Mtnr1b melatonin receptor 1B gene DOID:630 genetic disease ISO RGD:736711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752239 Mtnr1b melatonin receptor 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:736711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:22286214 8752239 Mtnr1b melatonin receptor 1B gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736711 D RGD:7240710 20230505 OMIM 8752243 Naa25 N-alpha-acetyltransferase 25, NatB auxiliary subunit gene DOID:630 genetic disease ISO RGD:1605042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752283 Stard13 StAR related lipid transfer domain containing 13 gene DOID:0080600 COVID-19 ISO RGD:1344085 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8752283 Stard13 StAR related lipid transfer domain containing 13 gene DOID:630 genetic disease ISO RGD:1344085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752283 Stard13 StAR related lipid transfer domain containing 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8752313 Mdh2 malate dehydrogenase 2 gene DOID:0080433 developmental and epileptic encephalopathy 51 ISO RGD:733026 D RGD:7240710 20190315 OMIM 8752313 Mdh2 malate dehydrogenase 2 gene DOID:0080433 developmental and epileptic encephalopathy 51 ISO RGD:733026 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51 | ClinVar Annotator: match by term: MDH2-related condition PMID:25741868|PMID:27989324|PMID:28492532|PMID:30008476|PMID:34712577|PMID:34718610|PMID:36420423 8752313 Mdh2 malate dehydrogenase 2 gene DOID:2316 brain ischemia ISO RGD:619719 D RGD:9068941 20200609 RGD PMID:6282622|REF_RGD_ID:1582465 8752313 Mdh2 malate dehydrogenase 2 gene DOID:305 carcinoma ISO RGD:733026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8752313 Mdh2 malate dehydrogenase 2 gene DOID:4001 ovarian carcinoma ISO RGD:733026 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 8752313 Mdh2 malate dehydrogenase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8752313 Mdh2 malate dehydrogenase 2 gene DOID:5844 myocardial infarction ISO RGD:619719 D RGD:9068941 20200609 RGD PMID:9753871|REF_RGD_ID:1582468 8752313 Mdh2 malate dehydrogenase 2 gene DOID:6000 congestive heart failure ISO RGD:619719 D RGD:9068941 20200609 RGD PMID:16786185|REF_RGD_ID:1582470 8752313 Mdh2 malate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:733026 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27989324|PMID:28492532|PMID:36420423 8752313 Mdh2 malate dehydrogenase 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8752313 Mdh2 malate dehydrogenase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8752313 Mdh2 malate dehydrogenase 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:733026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8752313 Mdh2 malate dehydrogenase 2 gene DOID:936 brain disease ISO RGD:733026 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Infantile encephalopathy PMID:25741868|PMID:27989324|PMID:28492532|PMID:34712577|PMID:36420423 8752326 Lratd1 LRAT domain containing 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8752326 Lratd1 LRAT domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1602648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8752326 Lratd1 LRAT domain containing 1 gene DOID:630 genetic disease ISO RGD:1602648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752335 Krt6a keratin 6A gene DOID:0050449 pachyonychia congenita ISO RGD:1346482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8752335 Krt6a keratin 6A gene DOID:630 genetic disease ISO RGD:1346482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752335 Krt6a keratin 6A gene DOID:9000914 Pachyonychia Congenita 3 ISO RGD:1346482 D RGD:7240710 20190327 OMIM 8752335 Krt6a keratin 6A gene DOID:9000914 Pachyonychia Congenita 3 ISO RGD:1346482 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pachyonychia congenita 3 PMID:11886499|PMID:16250206|PMID:17309457|PMID:21326300|PMID:22668561|PMID:24611874|PMID:25741868|PMID:28492532|PMID:31823354|PMID:32662074 8752356 Trim63 tripartite motif containing 63 gene DOID:0050700 cardiomyopathy ISO RGD:1345707 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19168726 8752356 Trim63 tripartite motif containing 63 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1345707 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:22821932|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32451364|PMID:35273634 8752356 Trim63 tripartite motif containing 63 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1345707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8752356 Trim63 tripartite motif containing 63 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1345707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8752356 Trim63 tripartite motif containing 63 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1345707 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22821932|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32368696|PMID:32451364|PMID:34137518|PMID:35273634 8752356 Trim63 tripartite motif containing 63 gene DOID:14557 primary pulmonary hypertension ISO RGD:1345707 D RGD:9068941 20230520 RGD mRNA, protein:increased expression:vastus lateralis PMID:23972212|REF_RGD_ID:329812002 8752356 Trim63 tripartite motif containing 63 gene DOID:630 genetic disease ISO RGD:1345707 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22821932|PMID:24436435|PMID:25741868|PMID:25801283|PMID:28492532|PMID:30372688|PMID:32451364|PMID:35273634 8752356 Trim63 tripartite motif containing 63 gene DOID:767 muscular atrophy ISO RGD:1345707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21139329 8752356 Trim63 tripartite motif containing 63 gene DOID:767 muscular atrophy ISO RGD:619964 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius PMID:11679633|REF_RGD_ID:633893 8752356 Trim63 tripartite motif containing 63 gene DOID:9003936 Cardiomegaly ISO RGD:1345707 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19168726 8752356 Trim63 tripartite motif containing 63 gene DOID:9004462 Atrophy ISO RGD:1345707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19168726 8752356 Trim63 tripartite motif containing 63 gene DOID:9884 muscular dystrophy ISO RGD:619964 D RGD:9068941 20200609 RGD mRNA:increased expression:muscle PMID:24710205|REF_RGD_ID:14695084 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:0050439 Usher syndrome ISO RGD:1313332 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1313332 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11134255|PMID:11685592|PMID:11961012|PMID:12028435|PMID:12631110|PMID:14871398|PMID:17216251|PMID:17396119|PMID:19129241|PMID:20029656|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27884173|PMID:28059119|PMID:28492532|PMID:9792860 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:0080322 polycystic kidney disease ISO RGD:1313332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:31922066 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1313332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868|PMID:28492532 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:1313332 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome PMID:11961012|PMID:12631110|PMID:12748344|PMID:15618242|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17576681|PMID:19129241|PMID:20301386|PMID:21196518|PMID:21897443|PMID:24033266|PMID:24052634|PMID:24633401|PMID:24854265|PMID:25307543|PMID:25525159|PMID:25596306|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27859054|PMID:28492532|PMID:28632965|PMID:28844315|PMID:29801666|PMID:29854973|PMID:29924831|PMID:30745910|PMID:31312213|PMID:31934206|PMID:33369211|PMID:33532864|PMID:33772369|PMID:34746741|PMID:35759000|PMID:9536098|PMID:9792860 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:1313332 D RGD:7240710 20180130 OMIM 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:1313332 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:12748344|PMID:14582039|PMID:15618242|PMID:15954103|PMID:16199547|PMID:16338941|PMID:17216251|PMID:17396119|PMID:17576681|PMID:19129241|PMID:19675380|PMID:20029656|PMID:20301386|PMID:21196518|PMID:21897443|PMID:22887978|PMID:23349334|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24472419|PMID:24522496|PMID:24633401|PMID:24854265|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25525159|PMID:25596306|PMID:25741868|PMID:25755845|PMID:26467025|PMID:26628290|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27469977|PMID:27859054|PMID:28117080|PMID:28476686|PMID:28492532|PMID:28542346|PMID:28632965|PMID:28844315|PMID:28968992|PMID:29098738|PMID:29204651|PMID:29496980|PMID:29801666|PMID:29854973|PMID:29873249|PMID:29924831|PMID:30076350|PMID:30406062|PMID:30586318|PMID:30647093|PMID:30745910|PMID:30883042|PMID:30968591|PMID:31049720|PMID:31312213|PMID:31328266|PMID:31408864|PMID:31677115|PMID:31922066|PMID:32332277|PMID:32604935|PMID:32703181|PMID:32723786|PMID:32939031|PMID:33048202|PMID:33095447|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34584596|PMID:34625929|PMID:34746741|PMID:35369551|PMID:35759000|PMID:36699462|PMID:7987396|PMID:8787673|PMID:9195222|PMID:9536098|PMID:9792860 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1313332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:12028435|PMID:17396119|PMID:19129241|PMID:19675380|PMID:20029656|PMID:24033266|PMID:25514610|PMID:25741868|PMID:25755845|PMID:26467025|PMID:28492532 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:0111365 benign familial hematuria ISO RGD:1313332 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: Thin basement membrane nephropathy PMID:11961012|PMID:12325029|PMID:12631110|PMID:14582039|PMID:16199547|PMID:16338941|PMID:17216251|PMID:17396119|PMID:17576681|PMID:21196518|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27281700|PMID:28476686|PMID:28492532|PMID:28632965|PMID:28844315|PMID:29496980|PMID:29801666|PMID:29854973|PMID:30295827|PMID:30745910|PMID:30968591|PMID:31686460|PMID:31934206|PMID:32332277|PMID:32604935|PMID:32703181|PMID:32939031|PMID:33048202|PMID:33095447|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33838161|PMID:34584596|PMID:34746741|PMID:35759000|PMID:8787673|PMID:9536098|PMID:9792860 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:10983 Alport syndrome ISO RGD:1313332 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane PMID:11134255|PMID:11685592|PMID:11961012|PMID:12028435|PMID:12325029|PMID:12631110|PMID:14582039|PMID:14871398|PMID:15618242|PMID:15880327|PMID:16199547|PMID:1721625|PMID:17216251|PMID:17396119|PMID:17576681|PMID:19129241|PMID:19675380|PMID:20029656|PMID:21196518|PMID:22887978|PMID:23349334|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24472419|PMID:24522496|PMID:24854265|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25514610|PMID:25575550|PMID:25741868|PMID:25755845|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27365461|PMID:27884173|PMID:28059119|PMID:28476686|PMID:28492532|PMID:28632965|PMID:28780565|PMID:28844315|PMID:28968992|PMID:29098738|PMID:29496980|PMID:29924831|PMID:30406062|PMID:30647093|PMID:30745910|PMID:30883042|PMID:30968591|PMID:31049720|PMID:31408864|PMID:31922066|PMID:32332277|PMID:32604935|PMID:32703181|PMID:32939031|PMID:33048202|PMID:33095447|PMID:33532864|PMID:33772369|PMID:33838161|PMID:33854215|PMID:34584596|PMID:34746741|PMID:35090027|PMID:35759000|PMID:9536098|PMID:9792860 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:1184 nephrotic syndrome ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:21196518|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33532864 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313332 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:12028435|PMID:15618242|PMID:17396119|PMID:19129241|PMID:20029656|PMID:21196518|PMID:24033266|PMID:24052634|PMID:24522496|PMID:24854265|PMID:25307543|PMID:25514610|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27281700|PMID:28492532|PMID:31049720|PMID:31922066 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:2921 glomerulonephritis ISO RGD:1313332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:12325029|PMID:17216251|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:557 kidney disease ISO RGD:1313332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:14582039|PMID:1721625|PMID:17216251|PMID:17396119|PMID:22887978|PMID:24033266|PMID:25381091|PMID:25741868|PMID:26467025|PMID:27365461|PMID:28476686|PMID:28492532|PMID:29924831|PMID:30968591|PMID:32332277|PMID:32703181|PMID:33772369|PMID:9792860 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:630 genetic disease ISO RGD:1313332 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24033266|PMID:24052634|PMID:24854265|PMID:25741868|PMID:26809805|PMID:28492532|PMID:28632965|PMID:28844315|PMID:29801666|PMID:33772369|PMID:34746741|PMID:34762194|PMID:35759000|PMID:9536098|PMID:9724608 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:783 end stage renal disease ISO RGD:1313332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:24033266|PMID:25741868|PMID:28492532 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:784 chronic kidney disease ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:12325029|PMID:21196518|PMID:24052634|PMID:24854265|PMID:25307543|PMID:25741868|PMID:28492532|PMID:32723786 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:9000363 Hematuria ISO RGD:1313332 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hematuria PMID:24052634|PMID:24854265|PMID:25741868|PMID:26809805|PMID:28492532|PMID:28632965|PMID:28844315|PMID:33772369|PMID:34746741|PMID:35759000 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:9004538 Hearing Loss ISO RGD:1313332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17396119|PMID:24033287|PMID:24854265|PMID:25741868|PMID:26934356|PMID:28492532|PMID:28632965|PMID:29496980|PMID:30311386|PMID:33048202|PMID:33532864|PMID:33838161|PMID:34584596 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:9006352 Benign Familial Hematuria 1 ISO RGD:1313332 D RGD:7240710 20230505 OMIM 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:9006352 Benign Familial Hematuria 1 ISO RGD:1313332 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COL4A4-related condition | ClinVar Annotator: match by term: HEMATURIA, BENIGN FAMILIAL, 1 PMID:12325029|PMID:12631110|PMID:16199547|PMID:17216251|PMID:17576681|PMID:19129241|PMID:20301386|PMID:21196518|PMID:21897443|PMID:24052634|PMID:24522496|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27281700|PMID:27859054|PMID:28492532|PMID:28632965|PMID:31049720|PMID:31922066|PMID:33532864|PMID:35419377|PMID:9536098|PMID:9792860 8752368 Col4a4 collagen type IV alpha 4 chain gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:1313332 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diffuse mesangial sclerosis PMID:25514610|PMID:25741868|PMID:28632965 8752424 Pxn paxillin gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21159652 8752424 Pxn paxillin gene DOID:630 genetic disease ISO RGD:1313984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752424 Pxn paxillin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492274 8752424 Pxn paxillin gene DOID:9004118 Experimental Melanoma ISO RGD:1313984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492274 8752424 Pxn paxillin gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1313984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100775 8752449 Neurl1 neuralized E3 ubiquitin protein ligase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1315966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8752449 Neurl1 neuralized E3 ubiquitin protein ligase 1 gene DOID:11832 visual epilepsy ISO RGD:1307021 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:12213446|REF_RGD_ID:2302390 8752449 Neurl1 neuralized E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1315966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752449 Neurl1 neuralized E3 ubiquitin protein ligase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 8752460 Frmd5 FERM domain containing 5 gene DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ISO RGD:1605911 D RGD:7240710 20221102 OMIM 8752460 Frmd5 FERM domain containing 5 gene DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia ISO RGD:1605911 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with eye movement abnormalities and ataxia PMID:25741868|PMID:36206744 8752460 Frmd5 FERM domain containing 5 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1605911 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 8752460 Frmd5 FERM domain containing 5 gene DOID:2717 Bloom syndrome ISO RGD:1605911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8752460 Frmd5 FERM domain containing 5 gene DOID:630 genetic disease ISO RGD:1605911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752460 Frmd5 FERM domain containing 5 gene DOID:9256 colorectal cancer ISO RGD:1605911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:0080600 COVID-19 ISO RGD:736446 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer ISO RGD:3757 D RGD:9068941 20200609 RGD PMID:16818707|REF_RGD_ID:2302523 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer ISO RGD:736446 D RGD:9068941 20200609 RGD PMID:16818707|REF_RGD_ID:2302523 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:736446 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:17720776|REF_RGD_ID:2302521 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:11132 prostatic hypertrophy severity ISO RGD:736446 D RGD:9068941 20200609 RGD DNA:SNPs:cds PMID:15136785|REF_RGD_ID:2302559 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:736446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543|PMID:22381227 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:12700 hyperprolactinemia ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (rat) PMID:18379994|REF_RGD_ID:4891877 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:1459 hypothyroidism ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:decreased expression:epididymus (rat) PMID:20303481|REF_RGD_ID:4891505 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:289 endometriosis ISO RGD:736446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21232532|PMID:23183084 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:3459 breast carcinoma ISO RGD:736446 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:15212687|REF_RGD_ID:2302558 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:630 genetic disease ISO RGD:736446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:11341 D RGD:9068941 20200609 RGD PMID:17707058|REF_RGD_ID:2302522 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500220|PMID:20564326 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:9003936 Cardiomegaly ISO RGD:736446 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (human) PMID:12374776|REF_RGD_ID:4891966 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:17884440|REF_RGD_ID:4891894 8752499 Srd5a1 steroid 5 alpha-reductase 1 gene DOID:9970 obesity ISO RGD:3757 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20098742|REF_RGD_ID:4891511 8752508 Eppk1 epiplakin 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1343625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8752508 Eppk1 epiplakin 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1343625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8752508 Eppk1 epiplakin 1 gene DOID:2661 myoepithelioma ISO RGD:1343625 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8752508 Eppk1 epiplakin 1 gene DOID:4621 holoprosencephaly ISO RGD:1343625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8752508 Eppk1 epiplakin 1 gene DOID:630 genetic disease ISO RGD:1343625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752508 Eppk1 epiplakin 1 gene DOID:9001341 Chloracne ISO RGD:1343625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8752519 Blnk B cell linker gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1347273 D RGD:7240710 20180130 OMIM 8752519 Blnk B cell linker gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1347273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:10583958|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24582315|PMID:25741868|PMID:28492532|PMID:30619340|PMID:9536098 8752519 Blnk B cell linker gene DOID:2583 agammaglobulinemia ISO RGD:1347273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8752519 Blnk B cell linker gene DOID:2583 agammaglobulinemia susceptibility ISO RGD:1347273 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:10583958|REF_RGD_ID:1600518 8752519 Blnk B cell linker gene DOID:630 genetic disease ISO RGD:1347273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8752547 Robo3 roundabout guidance receptor 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8752547 Robo3 roundabout guidance receptor 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8752547 Robo3 roundabout guidance receptor 3 gene DOID:12849 autistic disorder ISO RGD:1322248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 8752547 Robo3 roundabout guidance receptor 3 gene DOID:5419 schizophrenia ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8752547 Robo3 roundabout guidance receptor 3 gene DOID:630 genetic disease ISO RGD:1322248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32580277 8752547 Robo3 roundabout guidance receptor 3 gene DOID:9000998 Brain Injuries ISO RGD:1311018 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 8752547 Robo3 roundabout guidance receptor 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8752547 Robo3 roundabout guidance receptor 3 gene DOID:9004787 Familial Horizontal Gaze Palsy with Progressive Scoliosis ISO RGD:1322248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8752547 Robo3 roundabout guidance receptor 3 gene DOID:9004843 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 ISO RGD:1322248 D RGD:7240710 20190327 OMIM 8752547 Robo3 roundabout guidance receptor 3 gene DOID:9004843 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 ISO RGD:1322248 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 PMID:15105459|PMID:16525029|PMID:16772357|PMID:18829051|PMID:19041479|PMID:19633821|PMID:21850172|PMID:24969490|PMID:25326635|PMID:25741868|PMID:27318526|PMID:28024310|PMID:28492532|PMID:29215389|PMID:32373565|PMID:32580277|PMID:32860008|PMID:34374989 8752547 Robo3 roundabout guidance receptor 3 gene DOID:9007661 Dwarfism ISO RGD:1322248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8752579 Mplkip M-phase specific PLK1 interacting protein gene DOID:0050528 nonphotosensitive trichothiodystrophy 4 ISO RGD:1344320 D RGD:7240710 20190904 OMIM 8752579 Mplkip M-phase specific PLK1 interacting protein gene DOID:0050528 nonphotosensitive trichothiodystrophy 4 ISO RGD:1344320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 4, nonphotosensitive PMID:15645389|PMID:1634754|PMID:16977596|PMID:2333887|PMID:24824130|PMID:25290684|PMID:25606444|PMID:25741868|PMID:26880286|PMID:28492532|PMID:4847854|PMID:5645693 8752579 Mplkip M-phase specific PLK1 interacting protein gene DOID:0111866 trichothiodystrophy ISO RGD:1344320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8752579 Mplkip M-phase specific PLK1 interacting protein gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1344320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive 8752579 Mplkip M-phase specific PLK1 interacting protein gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1344320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 8752579 Mplkip M-phase specific PLK1 interacting protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8752579 Mplkip M-phase specific PLK1 interacting protein gene DOID:630 genetic disease ISO RGD:1344320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8752593 Med30 mediator complex subunit 30 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1319681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8752593 Med30 mediator complex subunit 30 gene DOID:206 hereditary multiple exostoses ISO RGD:1319681 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 8752593 Med30 mediator complex subunit 30 gene DOID:630 genetic disease ISO RGD:1319681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752614 Clmp CXADR like membrane protein gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal pseudo-obstruction PMID:18209785|PMID:22155368|PMID:25741868|PMID:27352967|PMID:28708303 8752614 Clmp CXADR like membrane protein gene DOID:10605 short bowel syndrome ISO RGD:1602686 D RGD:7240710 20220316 OMIM 8752614 Clmp CXADR like membrane protein gene DOID:10605 short bowel syndrome ISO RGD:1602686 D RGD:8554872 20240123 ClinVar ClinVar Annotator: match by term: Congenital short bowel syndrome, autosomal recessive PMID:16707984|PMID:18209785|PMID:22155368|PMID:25741868|PMID:27352967|PMID:28708303 8752614 Clmp CXADR like membrane protein gene DOID:5419 schizophrenia ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8752614 Clmp CXADR like membrane protein gene DOID:630 genetic disease ISO RGD:1602686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752614 Clmp CXADR like membrane protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8752614 Clmp CXADR like membrane protein gene DOID:9007661 Dwarfism ISO RGD:1602686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8752625 Fastkd5 FAST kinase domains 5 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1602469 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8752625 Fastkd5 FAST kinase domains 5 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1602469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8752625 Fastkd5 FAST kinase domains 5 gene DOID:5419 schizophrenia ISO RGD:1602469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8752625 Fastkd5 FAST kinase domains 5 gene DOID:630 genetic disease ISO RGD:1602469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752625 Fastkd5 FAST kinase domains 5 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1602469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8752645 Cfap276 cilia and flagella associated protein 276 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1319313 D RGD:9068941 20220825 MouseDO 8752645 Cfap276 cilia and flagella associated protein 276 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8752645 Cfap276 cilia and flagella associated protein 276 gene DOID:12849 autistic disorder ISO RGD:1604538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8752654 Tpgs1 tubulin polyglutamylase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1323455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752660 Bud23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:0060041 autism spectrum disorder ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8752660 Bud23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:12849 autistic disorder ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8752660 Bud23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:1928 Williams-Beuren syndrome ISO RGD:1344086 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8752660 Bud23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8752660 Bud23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:5419 schizophrenia ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8752660 Bud23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1344086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752660 Bud23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:8445 intestinal volvulus ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8752660 Bud23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8752660 Bud23 BUD23 rRNA methyltransferase and ribosome maturation factor gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2289752 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:0110994 Joubert syndrome 25 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:0111934 immunodeficiency 38 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:0111935 immunodeficiency 16 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:630 genetic disease ISO RGD:2289752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:2289752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8752679 Cptp ceramide-1-phosphate transfer protein gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:2289752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8752687 Abcf3 ATP binding cassette subfamily F member 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1321386 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8752687 Abcf3 ATP binding cassette subfamily F member 3 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1321386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8752687 Abcf3 ATP binding cassette subfamily F member 3 gene DOID:0111546 Currarino syndrome ISO RGD:1321386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8752687 Abcf3 ATP binding cassette subfamily F member 3 gene DOID:10283 prostate cancer ISO RGD:1321386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8752687 Abcf3 ATP binding cassette subfamily F member 3 gene DOID:630 genetic disease ISO RGD:1321386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752712 Gys1 glycogen synthase 1 gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1320086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroferritinopathy PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 8752712 Gys1 glycogen synthase 1 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1320086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 8752712 Gys1 glycogen synthase 1 gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1320086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 8752712 Gys1 glycogen synthase 1 gene DOID:1287 cardiovascular system disease severity ISO RGD:1320086 D RGD:9068941 20200609 RGD PMID:17356695|REF_RGD_ID:2313172 8752712 Gys1 glycogen synthase 1 gene DOID:630 genetic disease ISO RGD:1320086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8752712 Gys1 glycogen synthase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1320086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 8752712 Gys1 glycogen synthase 1 gene DOID:9004878 L-Ferritin Deficiency ISO RGD:1320086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-ferritin deficiency PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 8752712 Gys1 glycogen synthase 1 gene DOID:9005648 Glycogen Storage Disease 0, Muscle ISO RGD:1320086 D RGD:7240710 20180130 OMIM 8752712 Gys1 glycogen synthase 1 gene DOID:9005648 Glycogen Storage Disease 0, Muscle ISO RGD:1320086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD 0b | ClinVar Annotator: match by term: Glycogen storage disease 0, muscle | ClinVar Annotator: match by term: Muscle glycogen synthase deficiency PMID:10102713|PMID:16199547|PMID:17182944|PMID:17576681|PMID:17928598|PMID:18414213|PMID:19699667|PMID:21958591|PMID:25741868|PMID:28492532|PMID:34906502|PMID:9267990|PMID:9389424|PMID:9536098 8752712 Gys1 glycogen synthase 1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:1320086 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human) PMID:9267990|REF_RGD_ID:2313176 8752739 Cldn8 claudin 8 gene DOID:1790 malignant mesothelioma ISO RGD:1318427 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 8752739 Cldn8 claudin 8 gene DOID:630 genetic disease ISO RGD:1318427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752745 Lsm2 LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:0080600 COVID-19 ISO RGD:70825 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:70825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:0112231 lissencephaly 7 with cerebellar hypoplasia ISO RGD:70825 D RGD:7240710 20180130 OMIM 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:0112231 lissencephaly 7 with cerebellar hypoplasia ISO RGD:70825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia PMID:25560765 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:10652 Alzheimer's disease ISO RGD:70825 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.149800G>C (human) PMID:15917097|REF_RGD_ID:13782365 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:28269780|REF_RGD_ID:13508590 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:10652 Alzheimer's disease treatment ISO RGD:70826 D RGD:9068941 20200609 RGD PMID:28085018|REF_RGD_ID:13792587 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:12098 trigeminal neuralgia ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:21161138|REF_RGD_ID:13782378 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:1596 depressive disorder treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:21682945|REF_RGD_ID:13782377 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:224 transient cerebral ischemia treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:28254431|REF_RGD_ID:13506925 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:2316 brain ischemia ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:14502288|REF_RGD_ID:734740 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:2843 long QT syndrome ISO RGD:70825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:70826 D RGD:9068941 20200609 RGD PMID:11343650|REF_RGD_ID:734741 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:3525 middle cerebral artery infarction ISO RGD:70826 D RGD:9068941 20200609 RGD PMID:24920629|REF_RGD_ID:13782375 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:630 genetic disease ISO RGD:70825 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:670 amphetamine abuse ISO RGD:70826 D RGD:9068941 20231118 RGD protein:increased expression:ventral tegmental area, nucleus accumbens (mouse) PMID:28782589|REF_RGD_ID:401900303 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:680 tauopathy ISO RGD:70825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26945731 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:8725 vascular dementia treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:27118553|REF_RGD_ID:13792766 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:25301568|REF_RGD_ID:13782374 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:9005372 Inflammation ISO RGD:70514 D RGD:9068941 20200609 RGD PMID:16407116|REF_RGD_ID:13782383 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70826 D RGD:9068941 20200609 RGD PMID:11268215|REF_RGD_ID:734739 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:9005968 Neuralgia ameliorates ISO RGD:70514 D RGD:9068941 20231230 RGD PMID:24659417|REF_RGD_ID:401940123 8752753 Cdk5 cyclin dependent kinase 5 gene DOID:9009105 HIV Encephalitis ISO RGD:70514 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:hippocampus PMID:28107387|REF_RGD_ID:13506927 8752772 Klc4 kinesin light chain 4 gene DOID:0050444 infantile Refsum disease ISO RGD:1315239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8752772 Klc4 kinesin light chain 4 gene DOID:630 genetic disease ISO RGD:1315239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752772 Klc4 kinesin light chain 4 gene DOID:905 Zellweger syndrome ISO RGD:1315239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8752802 Trim35 tripartite motif containing 35 gene DOID:630 genetic disease ISO RGD:1344257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752812 Rpp38 ribonuclease P/MRP subunit p38 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1316690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8752812 Rpp38 ribonuclease P/MRP subunit p38 gene DOID:1909 melanoma ISO RGD:1316690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8752812 Rpp38 ribonuclease P/MRP subunit p38 gene DOID:630 genetic disease ISO RGD:1316690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752822 Actr8 actin related protein 8 gene DOID:630 genetic disease ISO RGD:1323563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0050590 severe congenital neutropenia ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia PMID:24753205 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0050766 choreaacanthocytosis ISO RGD:1603702 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Chorea-acanthocytosis PMID:11532986|PMID:25525159|PMID:25741868 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant PMID:24753205 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1603702 D RGD:7240710 20180130 OMIM 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1603702 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: Marble bones autosomal recessive | ClinVar Annotator: match by term: TCIRG1-related condition PMID:10888887|PMID:10942435|PMID:11532986|PMID:12507890|PMID:12552563|PMID:12566520|PMID:14675409|PMID:15300850|PMID:16199547|PMID:16840787|PMID:17576681|PMID:18715141|PMID:19448635|PMID:19507210|PMID:20424301|PMID:21042819|PMID:22231430|PMID:23412864|PMID:23721911|PMID:24033266|PMID:24101165|PMID:24108692|PMID:24535484|PMID:24753205|PMID:24989235|PMID:25018813|PMID:25326635|PMID:25525159|PMID:25741868|PMID:25829125|PMID:26264438|PMID:26777052|PMID:27229898|PMID:28492532|PMID:28604959|PMID:28816234|PMID:29363653|PMID:29431110|PMID:29723947|PMID:30084437|PMID:30431110|PMID:30537558|PMID:30539151|PMID:30898715|PMID:31111556|PMID:31319225|PMID:31501239|PMID:31567691|PMID:31589614|PMID:31949009|PMID:31949762|PMID:32411386|PMID:34753502|PMID:9506970|PMID:9536098 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:1059 intellectual disability ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:11836 clubfoot ISO RGD:1552412 D RGD:9068941 20220825 MouseDO OMIM:119800 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:13533 osteopetrosis ISO RGD:1603702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:10888887|PMID:10942435|PMID:11532986|PMID:12552563|PMID:15300850|PMID:16199547|PMID:16840787|PMID:19448635|PMID:19507210|PMID:20424301|PMID:21042819|PMID:23721911|PMID:24033266|PMID:24535484|PMID:24753205|PMID:25326635|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29363653|PMID:29431110|PMID:30084437|PMID:30431110|PMID:30539151|PMID:30898715|PMID:31501239|PMID:31567691|PMID:31589614|PMID:31949009|PMID:31949762|PMID:32411386|PMID:34753502 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:3652 Leigh disease ISO RGD:1603702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:4254 osteosclerosis ISO RGD:1603702 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:22231430|PMID:24033266|PMID:25741868|PMID:26264438|PMID:28492532 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:630 genetic disease ISO RGD:1603702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10942435|PMID:15300850|PMID:17576681|PMID:19507210|PMID:24989235|PMID:25741868|PMID:28492532|PMID:9536098 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1603702 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8752843 Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1603702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8752871 Styxl1 serine/threonine/tyrosine interacting like 1 gene DOID:1826 epilepsy ISO RGD:1353281 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8752871 Styxl1 serine/threonine/tyrosine interacting like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8752871 Styxl1 serine/threonine/tyrosine interacting like 1 gene DOID:630 genetic disease ISO RGD:1353281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752871 Styxl1 serine/threonine/tyrosine interacting like 1 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1353281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8752893 Rffl ring finger and FYVE like domain containing E3 ubiquitin protein ligase gene DOID:10763 hypertension ISO RGD:727916 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart PMID:21357277|REF_RGD_ID:13442502 8752893 Rffl ring finger and FYVE like domain containing E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1605590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752893 Rffl ring finger and FYVE like domain containing E3 ubiquitin protein ligase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8752924 Il7r interleukin 7 receptor gene DOID:0080600 COVID-19 ISO RGD:1320295 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8752924 Il7r interleukin 7 receptor gene DOID:0080915 histiocytic sarcoma ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:21664875|PMID:25741868|PMID:26123418|PMID:28492532 8752924 Il7r interleukin 7 receptor gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:1320295 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism 8752924 Il7r interleukin 7 receptor gene DOID:10534 stomach cancer susceptibility ISO RGD:1320295 D RGD:9068941 20220204 RGD DNA:SNPs,haplotype:IVS,exon:1560 G>A (rs1389832),33 A>G(rs1494555), 1472 A>C (rs1494556)(human) PMID:18687755|REF_RGD_ID:151347690 8752924 Il7r interleukin 7 receptor gene DOID:12236 primary biliary cholangitis ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 8752924 Il7r interleukin 7 receptor gene DOID:1909 melanoma ISO RGD:1320295 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8752924 Il7r interleukin 7 receptor gene DOID:219 colon cancer disease_progression ISO RGD:1320295 D RGD:9068941 20220204 RGD DNA:deletion: : PMID:29755661|REF_RGD_ID:126779581 8752924 Il7r interleukin 7 receptor gene DOID:2377 multiple sclerosis ISO RGD:1320295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 3 PMID:21664875|PMID:24759676|PMID:25046553|PMID:25741868|PMID:26123418|PMID:27577878|PMID:28436970|PMID:28492532|PMID:32576985|PMID:32765500 8752924 Il7r interleukin 7 receptor gene DOID:289 endometriosis ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8752924 Il7r interleukin 7 receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:1309776 D RGD:9068941 20220204 RGD protein:increased expression:brain: PMID:30676545|REF_RGD_ID:151347693 8752924 Il7r interleukin 7 receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320295 D RGD:9068941 20220204 RGD PMID:21159243|REF_RGD_ID:151347686 8752924 Il7r interleukin 7 receptor gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1320295 D RGD:9068941 20220204 RGD DNA:SNPs:: rs1494555,rs7737000(human) PMID:19505916|REF_RGD_ID:4142793 8752924 Il7r interleukin 7 receptor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892159 8752924 Il7r interleukin 7 receptor gene DOID:627 severe combined immunodeficiency ISO RGD:1320295 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:15661025|PMID:16492442|PMID:17201233|PMID:17827065|PMID:18403192|PMID:18641513|PMID:21664875|PMID:23810098|PMID:24728327|PMID:24759676|PMID:25046553|PMID:25741868|PMID:26123418|PMID:27577878|PMID:27833609|PMID:28436970|PMID:28492532|PMID:30778343|PMID:32576985|PMID:32765500|PMID:33084842 8752924 Il7r interleukin 7 receptor gene DOID:630 genetic disease ISO RGD:1320295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8752924 Il7r interleukin 7 receptor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1320295 D RGD:9068941 20220204 RGD PMID:26155428|REF_RGD_ID:151347688 8752924 Il7r interleukin 7 receptor gene DOID:8577 ulcerative colitis ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 8752924 Il7r interleukin 7 receptor gene DOID:9000795 Immunodeficiency 104 ISO RGD:1320295 D RGD:7240710 20220706 OMIM 8752924 Il7r interleukin 7 receptor gene DOID:9000795 Immunodeficiency 104 ISO RGD:1320295 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: IL7R-related condition | ClinVar Annotator: match by term: Immunodeficiency 104 PMID:10899029|PMID:11023514|PMID:15615257|PMID:15661025|PMID:16199547|PMID:16492442|PMID:17201233|PMID:17576681|PMID:17827065|PMID:18403192|PMID:18641513|PMID:19763152|PMID:19890784|PMID:20021794|PMID:20307669|PMID:21664875|PMID:22406018|PMID:23810098|PMID:24033266|PMID:24578017|PMID:24728327|PMID:24759676|PMID:25046553|PMID:25741868|PMID:26123418|PMID:27577878|PMID:27807805|PMID:27833609|PMID:28436970|PMID:28492532|PMID:28747913|PMID:29551298|PMID:30290665|PMID:30778343|PMID:30858051|PMID:31031743|PMID:32576985|PMID:32765500|PMID:32888943|PMID:33628209|PMID:35418989|PMID:9536098|PMID:9843216 8752924 Il7r interleukin 7 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8752924 Il7r interleukin 7 receptor gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:22897847|PMID:22955920 8752924 Il7r interleukin 7 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8752924 Il7r interleukin 7 receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1320295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892159 8752924 Il7r interleukin 7 receptor gene DOID:9008939 Breast Neoplasms ISO RGD:1320295 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 8752924 Il7r interleukin 7 receptor gene DOID:9538 multiple myeloma ISO RGD:1320295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8752940 Znf704 zinc finger protein 704 gene DOID:630 genetic disease ISO RGD:1605749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8752952 Tmem230 transmembrane protein 230 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1316576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8752952 Tmem230 transmembrane protein 230 gene DOID:10283 prostate cancer ISO RGD:1316576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8752952 Tmem230 transmembrane protein 230 gene DOID:14330 Parkinson's disease ISO RGD:1316576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27270108 8752952 Tmem230 transmembrane protein 230 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1316576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8752952 Tmem230 transmembrane protein 230 gene DOID:630 genetic disease ISO RGD:1316576 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8752994 Stk4 serine/threonine kinase 4 gene DOID:2234 focal epilepsy ISO RGD:1323808 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8752994 Stk4 serine/threonine kinase 4 gene DOID:3312 bipolar disorder ISO RGD:1323808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8752994 Stk4 serine/threonine kinase 4 gene DOID:612 primary immunodeficiency disease ISO RGD:1323808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:22174160|PMID:25741868|PMID:28492532 8752994 Stk4 serine/threonine kinase 4 gene DOID:627 severe combined immunodeficiency ISO RGD:1323808 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 8752994 Stk4 serine/threonine kinase 4 gene DOID:630 genetic disease ISO RGD:1323808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8752994 Stk4 serine/threonine kinase 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1323808 D RGD:7240710 20180130 OMIM 8752994 Stk4 serine/threonine kinase 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1323808 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MST1 DEFICIENCY | ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:16199547|PMID:17576681|PMID:22174160|PMID:22294732|PMID:25741868|PMID:26801501|PMID:28492532|PMID:34427831|PMID:9536098 8753009 Sema3e semaphorin 3E gene DOID:0050834 CHARGE syndrome ISO RGD:1322177 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:15235037|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:27854218|PMID:28492532|PMID:32870266|PMID:9536098 8753009 Sema3e semaphorin 3E gene DOID:0050834 CHARGE syndrome ISO RGD:1322177 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: CHARGE syndrome | ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:15235037|PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:25985275|PMID:26467025|PMID:27854218|PMID:28492532|PMID:30773290|PMID:32441320|PMID:32870266|PMID:35628442|PMID:9536098 8753009 Sema3e semaphorin 3E gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1322177 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 8753009 Sema3e semaphorin 3E gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1322177 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 8753009 Sema3e semaphorin 3E gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1322177 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome PMID:25741868 8753009 Sema3e semaphorin 3E gene DOID:13938 amenorrhea ISO RGD:1322177 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:28492532|PMID:32870266 8753009 Sema3e semaphorin 3E gene DOID:1826 epilepsy ISO RGD:1322177 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 8753009 Sema3e semaphorin 3E gene DOID:224 transient cerebral ischemia disease_progression ISO RGD:1310973 D RGD:9068941 20221117 RGD PMID:30653356|REF_RGD_ID:155663383 8753009 Sema3e semaphorin 3E gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8753009 Sema3e semaphorin 3E gene DOID:5419 schizophrenia ISO RGD:1322177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8753009 Sema3e semaphorin 3E gene DOID:630 genetic disease ISO RGD:1322177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8753009 Sema3e semaphorin 3E gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:1322177 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:15235037|PMID:25741868|PMID:25985275|PMID:27854218|PMID:28492532|PMID:32870266 8753042 Cib4 calcium and integrin binding family member 4 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8753042 Cib4 calcium and integrin binding family member 4 gene DOID:630 genetic disease ISO RGD:1606728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753054 Tfcp2l1 transcription factor CP2 like 1 gene DOID:630 genetic disease ISO RGD:1313494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753054 Tfcp2l1 transcription factor CP2 like 1 gene DOID:784 chronic kidney disease ISO RGD:1313494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:33097957 8753086 Fibcd1 fibrinogen C domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8753086 Fibcd1 fibrinogen C domain containing 1 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1319244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 8753086 Fibcd1 fibrinogen C domain containing 1 gene DOID:630 genetic disease ISO RGD:1319244 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8753097 Kif13b kinesin family member 13B gene DOID:630 genetic disease ISO RGD:1349792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753141 Lrrc47 leucine rich repeat containing 47 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8753141 Lrrc47 leucine rich repeat containing 47 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8753141 Lrrc47 leucine rich repeat containing 47 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8753141 Lrrc47 leucine rich repeat containing 47 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8753141 Lrrc47 leucine rich repeat containing 47 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8753141 Lrrc47 leucine rich repeat containing 47 gene DOID:630 genetic disease ISO RGD:1603205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753141 Lrrc47 leucine rich repeat containing 47 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8753141 Lrrc47 leucine rich repeat containing 47 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8753161 Dazap2 DAZ associated protein 2 gene DOID:630 genetic disease ISO RGD:1316588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753175 Dmac2l distal membrane arm assembly component 2 like gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1343474 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8753175 Dmac2l distal membrane arm assembly component 2 like gene DOID:630 genetic disease ISO RGD:1343474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098 8753187 CUNH4orf17 chromosome unknown C4orf17 homolog gene DOID:630 genetic disease ISO RGD:1352720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753201 Pllp plasmolipin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736785 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8753201 Pllp plasmolipin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736785 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8753201 Pllp plasmolipin gene DOID:1790 malignant mesothelioma ISO RGD:736785 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8753201 Pllp plasmolipin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8753201 Pllp plasmolipin gene DOID:5419 schizophrenia ISO RGD:736785 D RGD:9068941 20200609 RGD PMID:15334603|REF_RGD_ID:1358792 8753201 Pllp plasmolipin gene DOID:630 genetic disease ISO RGD:736785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753210 Upf3a UPF3A regulator of nonsense mediated mRNA decay gene DOID:2222 factor X deficiency ISO RGD:1318748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8753210 Upf3a UPF3A regulator of nonsense mediated mRNA decay gene DOID:630 genetic disease ISO RGD:1318748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753221 Syt12 synaptotagmin 12 gene DOID:1059 intellectual disability ISO RGD:737534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8753221 Syt12 synaptotagmin 12 gene DOID:630 genetic disease ISO RGD:737534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753221 Syt12 synaptotagmin 12 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:737534 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8753221 Syt12 synaptotagmin 12 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:737534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8753232 Tceal1 transcription elongation factor A like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8753232 Tceal1 transcription elongation factor A like 1 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1352968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 8753232 Tceal1 transcription elongation factor A like 1 gene DOID:12849 autistic disorder ISO RGD:1352968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8753232 Tceal1 transcription elongation factor A like 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1352968 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 8753232 Tceal1 transcription elongation factor A like 1 gene DOID:630 genetic disease ISO RGD:1352968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753232 Tceal1 transcription elongation factor A like 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8753232 Tceal1 transcription elongation factor A like 1 gene DOID:9008698 NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED ISO RGD:1352968 D RGD:7240710 20230505 OMIM 8753232 Tceal1 transcription elongation factor A like 1 gene DOID:9008698 NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED ISO RGD:1352968 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked PMID:25741868 8753235 Tmem150b transmembrane protein 150B gene DOID:0080600 COVID-19 ISO RGD:2304150 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8753235 Tmem150b transmembrane protein 150B gene DOID:630 genetic disease ISO RGD:2304150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753248 Thumpd1 THUMP domain containing 1 gene DOID:630 genetic disease ISO RGD:1318865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753248 Thumpd1 THUMP domain containing 1 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:1318865 D RGD:7240710 20221221 OMIM 8753248 Thumpd1 THUMP domain containing 1 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:1318865 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies PMID:25741868|PMID:30237576|PMID:35196516 8753248 Thumpd1 THUMP domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30237576|PMID:35196516 8753259 Ubd ubiquitin D gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:69468 D RGD:9068941 20240229 RGD protein:increased expression:liver (human) PMID:30009772|REF_RGD_ID:401976534 8753259 Ubd ubiquitin D gene DOID:10608 celiac disease ISO RGD:69468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8753259 Ubd ubiquitin D gene DOID:11372 megacolon ISO RGD:69468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8753259 Ubd ubiquitin D gene DOID:12236 primary biliary cholangitis ISO RGD:69468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 8753259 Ubd ubiquitin D gene DOID:5844 myocardial infarction ISO RGD:69418 D RGD:9068941 20210521 RGD associated with induced myocardial infarction PMID:29438664|REF_RGD_ID:126925221 8753259 Ubd ubiquitin D gene DOID:630 genetic disease ISO RGD:69468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753259 Ubd ubiquitin D gene DOID:684 hepatocellular carcinoma ISO RGD:69468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 8753259 Ubd ubiquitin D gene DOID:9000722 Animal Hepatitis ISO RGD:69468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559427 8753259 Ubd ubiquitin D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8753259 Ubd ubiquitin D gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:69468 D RGD:9068941 20240229 RGD protein:increased expression:liver (human) PMID:30009772|REF_RGD_ID:401976534 8753259 Ubd ubiquitin D gene DOID:9008939 Breast Neoplasms ISO RGD:69468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8753263 Terf2 telomeric repeat binding factor 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1322035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643074 8753263 Terf2 telomeric repeat binding factor 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1322035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8753263 Terf2 telomeric repeat binding factor 2 gene DOID:630 genetic disease ISO RGD:1322035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753282 Klhl41 kelch like family member 41 gene DOID:0110929 nemaline myopathy 9 ISO RGD:1351992 D RGD:7240710 20180130 OMIM 8753282 Klhl41 kelch like family member 41 gene DOID:0110929 nemaline myopathy 9 ISO RGD:1351992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 9 PMID:24268659|PMID:25558065|PMID:25741868|PMID:28492532 8753282 Klhl41 kelch like family member 41 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1351992 D RGD:9068941 20200609 RGD PMID:11583900|REF_RGD_ID:1580798 8753282 Klhl41 kelch like family member 41 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8753282 Klhl41 kelch like family member 41 gene DOID:3191 nemaline myopathy ISO RGD:1351992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy PMID:24268659|PMID:25558065 8753282 Klhl41 kelch like family member 41 gene DOID:630 genetic disease ISO RGD:1351992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8753294 Fastk Fas activated serine/threonine kinase gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1605699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8753294 Fastk Fas activated serine/threonine kinase gene DOID:2843 long QT syndrome ISO RGD:1605699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8753294 Fastk Fas activated serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1605699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1320241 D RGD:9068941 20221117 RGD PMID:35301145|REF_RGD_ID:155663375 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:22252294|REF_RGD_ID:155663358 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:0050852 limb ischemia exacerbates ISO RGD:1320242 D RGD:9068941 20221104 RGD PMID:20508179|REF_RGD_ID:155641249 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1320241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:26299364|PMID:29924900 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:0080322 polycystic kidney disease treatment ISO RGD:1309740 D RGD:9068941 20221217 RGD PMID:32685025|REF_RGD_ID:155791442 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:13025 retinopathy of prematurity treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:30652694|REF_RGD_ID:155663485 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:1612 breast cancer disease_progression ISO RGD:1320241 D RGD:9068941 20221110 RGD PMID:20167860|REF_RGD_ID:155641260 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1320242 D RGD:9068941 20221103 RGD PMID:22699504|REF_RGD_ID:155641244 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:1936 atherosclerosis treatment ISO RGD:1320242 D RGD:9068941 20221117 RGD PMID:30909142|REF_RGD_ID:155663380 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:31927543|REF_RGD_ID:155663354 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:224 transient cerebral ischemia disease_progression ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:30653356|REF_RGD_ID:155663383 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:30258350|REF_RGD_ID:155663419 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:264 hemangiopericytoma ISO RGD:1320241 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:2717 Bloom syndrome ISO RGD:1320241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:3021 acute kidney failure ameliorates ISO RGD:1320242 D RGD:9068941 20221117 RGD PMID:19828677|REF_RGD_ID:155663373 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:3070 high grade glioma ameliorates ISO RGD:1320242 D RGD:9068941 20221217 RGD PMID:17183313|REF_RGD_ID:155791441 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:326 ischemia ISO RGD:1309740 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:skin,endothelial cells PMID:25834117|REF_RGD_ID:155663350 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:326 ischemia ameliorates ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:22252294|REF_RGD_ID:155663358 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:4450 renal cell carcinoma treatment ISO RGD:1320241 D RGD:9068941 20221117 RGD PMID:25618828|REF_RGD_ID:155663382 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:4556 lung large cell carcinoma treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:5241 hemangioblastoma ISO RGD:1320241 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:temporal lobe : PMID:27388534|REF_RGD_ID:155641257 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:33628824|REF_RGD_ID:155663482 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:630 genetic disease ISO RGD:1320241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:6406 double outlet right ventricle susceptibility ISO RGD:1320242 D RGD:9068941 20221117 RGD PMID:34859965|REF_RGD_ID:155663381 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:6432 pulmonary hypertension ISO RGD:1320242 D RGD:9068941 20221110 RGD PMID:34739767|REF_RGD_ID:155646132 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:799 varicose veins ISO RGD:1320241 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:vein: PMID:26808710|REF_RGD_ID:11529441 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:8947 diabetic retinopathy ISO RGD:1320242 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:retina: PMID:30787185|REF_RGD_ID:155663348 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:8947 diabetic retinopathy severity ISO RGD:1320241 D RGD:9068941 20221111 RGD PMID:34362349|REF_RGD_ID:155663356 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1320242 D RGD:9068941 20221103 RGD protein:increased expression:aorta PMID:22699504|REF_RGD_ID:155641244 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9000713 Surgical Wound treatment ISO RGD:1309740 D RGD:9068941 20221110 RGD associated with type 1 diabetes mellitus; PMID:34256844|REF_RGD_ID:155641256 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1320241 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1309740 D RGD:9068941 20221201 RGD PMID:21063852|REF_RGD_ID:12859045 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9001919 Vascular Neoplasms ISO RGD:1309740 D RGD:9068941 20221110 RGD PMID:20147986|REF_RGD_ID:155641259 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ameliorates ISO RGD:1320242 D RGD:9068941 20221201 RGD PMID:21813770|REF_RGD_ID:155663662 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1309740 D RGD:9068941 20221201 RGD PMID:26670826|REF_RGD_ID:155663663 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9003191 Vascular Malformations ISO RGD:1320241 D RGD:9068941 20221111 RGD protein:increased expression:intestine: PMID:24219762|REF_RGD_ID:155663361 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9003191 Vascular Malformations ISO RGD:1320241 D RGD:9068941 20221111 RGD protein:increased expression:serum: PMID:21955427|REF_RGD_ID:155663363 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9004397 Calcification of Aortic Valve ameliorates ISO RGD:1320242 D RGD:9068941 20221103 RGD PMID:22699504|REF_RGD_ID:155641244 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9005333 Adams-Oliver Syndrome 6 ISO RGD:1320241 D RGD:7240710 20180130 OMIM 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9005333 Adams-Oliver Syndrome 6 ISO RGD:1320241 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 6 | ClinVar Annotator: match by term: DLL4-related condition PMID:25741868|PMID:26299364|PMID:28492532|PMID:29924900|PMID:32860008|PMID:616589 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9005647 Experimental Autoimmune Uveitis disease_progression ISO RGD:1309740 D RGD:9068941 20221222 RGD PMID:31209505|REF_RGD_ID:155791448 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9006151 Choroidal Neovascularization, Experimental treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:21526177|REF_RGD_ID:155663484 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:1309740 D RGD:9068941 20221104 RGD PMID:32089723|REF_RGD_ID:155641250 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9007730 Burns treatment ISO RGD:1309740 D RGD:9068941 20221117 RGD PMID:28319529|REF_RGD_ID:155663481 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9008022 Temporomandibular Joint Osteoarthritis disease_progression ISO RGD:1309740 D RGD:9068941 20221217 RGD PMID:28147322|REF_RGD_ID:155791443 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1320241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9256 colorectal cancer ISO RGD:1320241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9351 diabetes mellitus ISO RGD:1309740 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9351 diabetes mellitus ISO RGD:1320242 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 8753307 Dll4 delta like canonical Notch ligand 4 gene DOID:9351 diabetes mellitus ameliorates ISO RGD:1320242 D RGD:9068941 20221111 RGD PMID:29386132|REF_RGD_ID:155663360 8753328 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1602124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 8753328 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602124 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29322246|PMID:31440728|PMID:31685013|PMID:34345025 8753328 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:9000804 Intellectual Developmental Disorder with Seizures and Language Delay ISO RGD:1602124 D RGD:7240710 20200930 OMIM 8753328 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:9000804 Intellectual Developmental Disorder with Seizures and Language Delay ISO RGD:1602124 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with seizures and language delay | ClinVar Annotator: match by term: SETD1B-associated disorder | ClinVar Annotator: match by term: SETD1B-related condition PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29322246|PMID:31110234|PMID:31440728|PMID:31685013|PMID:32546566|PMID:34345025 8753328 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602124 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:34345025 8753328 Setd1b SET domain containing 1B, histone lysine methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1602124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8753367 Rab38 RAB38, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:734295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8753367 Rab38 RAB38, member RAS oncogene family gene DOID:2223 platelet storage pool deficiency ISO RGD:628752 D RGD:9068941 20201211 RGD PMID:9250486|REF_RGD_ID:1302447 8753367 Rab38 RAB38, member RAS oncogene family gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:628752 D RGD:9068941 20200609 RGD PMID:19897744|REF_RGD_ID:2324690 8753367 Rab38 RAB38, member RAS oncogene family gene DOID:576 proteinuria ISO RGD:628752 D RGD:9068941 20200609 RGD PMID:15758045|REF_RGD_ID:1357409 8753367 Rab38 RAB38, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:734295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753367 Rab38 RAB38, member RAS oncogene family gene DOID:9001542 Albuminuria ISO RGD:628752 D RGD:9068941 20200609 RGD PMID:15758045|REF_RGD_ID:1357409 8753367 Rab38 RAB38, member RAS oncogene family gene DOID:9001542 Albuminuria ISO RGD:628752 D RGD:9068941 20201211 RGD compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi PMID:23291471|REF_RGD_ID:13782139 8753374 Snx6 sorting nexin 6 gene DOID:630 genetic disease ISO RGD:1312208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753374 Snx6 sorting nexin 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312208 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8753390 Maf MAF bZIP transcription factor gene DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 PMID:24369382|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:29358611|PMID:32214227 8753390 Maf MAF bZIP transcription factor gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:731331 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 PMID:25741868|PMID:26467025|PMID:28492532 8753390 Maf MAF bZIP transcription factor gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:17576681|PMID:24369382|PMID:24456803|PMID:25411445|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:29358611|PMID:29390993|PMID:30356099|PMID:31130284|PMID:31780880|PMID:31957018|PMID:9536098 8753390 Maf MAF bZIP transcription factor gene DOID:0110256 cataract 21 multiple types ISO RGD:731331 D RGD:7240710 20180130 OMIM 8753390 Maf MAF bZIP transcription factor gene DOID:0110256 cataract 21 multiple types ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:11772997|PMID:12620964|PMID:16470690|PMID:17982426|PMID:22345400|PMID:24664492|PMID:24968223|PMID:25064449|PMID:25741868|PMID:25865493|PMID:26694549|PMID:28492532|PMID:30659945|PMID:34217267 8753390 Maf MAF bZIP transcription factor gene DOID:0111688 Ayme-Gripp syndrome ISO RGD:731331 D RGD:7240710 20180130 OMIM 8753390 Maf MAF bZIP transcription factor gene DOID:0111688 Ayme-Gripp syndrome ISO RGD:731331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ayme-Gripp syndrome PMID:12072800|PMID:17935251|PMID:25064449|PMID:25741868|PMID:25865493|PMID:28492532|PMID:30659945|PMID:34217267|PMID:8834052|PMID:8867660 8753390 Maf MAF bZIP transcription factor gene DOID:1059 intellectual disability ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8753390 Maf MAF bZIP transcription factor gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:731331 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans PMID:25741868 8753390 Maf MAF bZIP transcription factor gene DOID:1826 epilepsy ISO RGD:731331 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8753390 Maf MAF bZIP transcription factor gene DOID:1852 intrahepatic cholestasis ISO RGD:731331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20146260 8753390 Maf MAF bZIP transcription factor gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:28492532|PMID:29358611 8753390 Maf MAF bZIP transcription factor gene DOID:5041 esophageal cancer ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:25741868|PMID:28492532 8753390 Maf MAF bZIP transcription factor gene DOID:5419 schizophrenia ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8753390 Maf MAF bZIP transcription factor gene DOID:630 genetic disease ISO RGD:731331 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:31600839 8753390 Maf MAF bZIP transcription factor gene DOID:83 cataract ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549 8753390 Maf MAF bZIP transcription factor gene DOID:9003799 Cataract Microcornea Syndrome ISO RGD:731331 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human) PMID:19182255|REF_RGD_ID:13204740 8753390 Maf MAF bZIP transcription factor gene DOID:9008086 Developmental Disabilities ISO RGD:731331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8753390 Maf MAF bZIP transcription factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8753427 Degs1 delta 4-desaturase, sphingolipid 1 gene DOID:0070399 hypomyelinating leukodystrophy 18 ISO RGD:1605117 D RGD:7240710 20190515 OMIM 8753427 Degs1 delta 4-desaturase, sphingolipid 1 gene DOID:0070399 hypomyelinating leukodystrophy 18 ISO RGD:1605117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 18 PMID:25741868|PMID:30620337|PMID:30620338|PMID:31186544 8753427 Degs1 delta 4-desaturase, sphingolipid 1 gene DOID:10579 leukodystrophy ISO RGD:1605117 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:30620337|PMID:31186544 8753427 Degs1 delta 4-desaturase, sphingolipid 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8753427 Degs1 delta 4-desaturase, sphingolipid 1 gene DOID:630 genetic disease ISO RGD:1605117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30620337 8753427 Degs1 delta 4-desaturase, sphingolipid 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8753427 Degs1 delta 4-desaturase, sphingolipid 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345118 D RGD:9068941 20200609 RGD mRNA,protein:increased expression, increased activity:fibroblast PMID:23260200|REF_RGD_ID:10413908 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:0080855 Parkinsonism ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17640816 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:0081292 traumatic brain injury ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829224|PMID:28642177 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:10534 stomach cancer treatment ISO RGD:1345118 D RGD:9068941 20210611 RGD human cells in a mouse model PMID:29408335|REF_RGD_ID:127284846 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:10534 stomach cancer treatment ISO RGD:1345118 D RGD:9068941 20210625 RGD human cells in mouse model PMID:32106377|REF_RGD_ID:127284886 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:1059 intellectual disability ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:22051244|REF_RGD_ID:5510011 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551988 D RGD:9068941 20200609 RGD protein:increased activity:brain: PMID:21616968|REF_RGD_ID:10413888 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:haplotypes: : PMID:17290104|REF_RGD_ID:10413885 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:haplotypes:cds:rs1136410,rs1805404 (human) PMID:20486200|REF_RGD_ID:10413887 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:1074 kidney failure ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:19833176|REF_RGD_ID:10413912 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:10952 nephritis ISO RGD:1345118 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, 28077G>A (human) PMID:16461442|REF_RGD_ID:1601085 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:19741160|REF_RGD_ID:5683903 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:11396 pulmonary edema ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11818323 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:127 leiomyoma treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:21896544|REF_RGD_ID:10413890 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:12858 Huntington's disease ISO RGD:1345118 D RGD:9068941 20200609 RGD protein:increased expression:neuron,astrocyte: PMID:15668790|REF_RGD_ID:10413886 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:21596035|REF_RGD_ID:5683904 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:14115 toxic shock syndrome ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:12445868|REF_RGD_ID:10414070 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:21767974|REF_RGD_ID:5510021 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon:g.-410C>T, g.845_846dupAC (human) PMID:17362997|REF_RGD_ID:5510024 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1345118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:1790 malignant mesothelioma ISO RGD:1345118 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:21543585 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:1909 melanoma ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28759004 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:1936 atherosclerosis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18093987|PMID:19124646 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:1936 atherosclerosis ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:18093987|REF_RGD_ID:5683916 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:2237 hepatitis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:19840223|REF_RGD_ID:2325713 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:19840223|REF_RGD_ID:2325713 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:2316 brain ischemia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17640816 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:2355 anemia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:2723 dermatitis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:2841 asthma ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18261157 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:2841 asthma ISO RGD:1345118 D RGD:9068941 20200609 RGD protein:increased activation:lung, blood, mononuclear cell PMID:26205779|REF_RGD_ID:11073727 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:2841 asthma ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:12594058|REF_RGD_ID:5683910 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:2841 asthma treatment ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:26205779|REF_RGD_ID:11073727 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:2921 glomerulonephritis severity ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:19454727|REF_RGD_ID:5684011 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:3021 acute kidney failure ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:21884784|REF_RGD_ID:5510015 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:21311064|REF_RGD_ID:5683909 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:25882840|REF_RGD_ID:13792686 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:23801245|REF_RGD_ID:11073732 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:23143152|REF_RGD_ID:10054501 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27704718 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:23260200|REF_RGD_ID:10413908 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:417 autoimmune disease ISO RGD:1345118 D RGD:9068941 20200609 RGD coeliac disease PMID:16026592|REF_RGD_ID:1601087 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:4195 hyperglycemia susceptibility ISO RGD:1551988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:10077636|REF_RGD_ID:1300264 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:4455 hereditary renal cell carcinoma ISO RGD:1345118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:4667 kyphosis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:4989 pancreatitis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16127429 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:5082 liver cirrhosis ISO RGD:1345118 D RGD:9068941 20200609 RGD associated with Hepatitis B;mRNA:decreased expression:blood, mononuclear cell PMID:25755481|REF_RGD_ID:11073733 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:5154 borna disease ISO RGD:2053 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:neuron, glial cell: PMID:18057239|REF_RGD_ID:2316738 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:29781318|REF_RGD_ID:13782341 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:5517 stomach carcinoma susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:snp:cds:p.V762A rs1136410 (human) PMID:18716896|REF_RGD_ID:5683907 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:552 pneumonia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:557 kidney disease ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897|PMID:21884784 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:5844 myocardial infarction ISO RGD:1551988 D RGD:9068941 20200609 RGD protein:altered processing:left ventricle (mouse) PMID:21282286|REF_RGD_ID:5684012 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2053 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19443425|REF_RGD_ID:11074236 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:630 genetic disease ISO RGD:1345118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18695907 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30354818 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:824 periodontitis ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:14630900|REF_RGD_ID:10413909 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:848 arthritis ISO RGD:1345118 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, p.V762A (40329T>C) (human) PMID:16461442|REF_RGD_ID:1601085 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1345118 D RGD:9068941 20200609 RGD protein:increased expression:intestinal mucosa PMID:21399558|REF_RGD_ID:10413911 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:8677 perinatal necrotizing enterocolitis severity ISO RGD:2053 D RGD:9068941 20200609 RGD protein:increased expression:intestinal mucosa PMID:21399558|REF_RGD_ID:10413911 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696051 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:21748659|REF_RGD_ID:10053608 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18093987|PMID:19124646 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9000310 Lung Injury ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16127429 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9000784 Fibrosis ISO RGD:1551988 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:21613422|REF_RGD_ID:5683902 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9000927 Alveolar Bone Loss ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:14630900|REF_RGD_ID:10413909 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9000998 Brain Injuries ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17640816 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1551988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20621183|REF_RGD_ID:11073737 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342424 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:16356201|REF_RGD_ID:5684009 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9002514 Neointima ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:15044192|REF_RGD_ID:10413907 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696051|PMID:16798486 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:9390645|REF_RGD_ID:5510018 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2053 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21850691|REF_RGD_ID:5510020 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1551988 D RGD:9068941 20200609 RGD associated with Pancreatitis, Experimental, Acute PMID:16127429|REF_RGD_ID:11075069 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9004922 Spinal Cord Ischemia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696051 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2053 D RGD:9068941 20200609 RGD PMID:23404339|REF_RGD_ID:10053670 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9005246 Paralysis ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696051 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9005372 Inflammation ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18261157 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:18657544|REF_RGD_ID:2312287 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2053 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel: PMID:15044192|REF_RGD_ID:10413907 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:16127429|REF_RGD_ID:11075069 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345118 D RGD:9068941 20210604 CTD CTD Direct Evidence: therapeutic PMID:33771647 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:23598272|PMID:9670921|REF_RGD_ID:11073735|REF_RGD_ID:5683917 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27694308 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18676402 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20941507 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:17182544|REF_RGD_ID:11074797 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345118 D RGD:9068941 20200609 RGD PMID:15895395|REF_RGD_ID:11075068 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9470 bacterial meningitis susceptibility ISO RGD:1345118 D RGD:9068941 20200609 RGD DNA:snp:cds:p.V762A rs1136410 (human) PMID:21651918|REF_RGD_ID:5683901 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9538 multiple myeloma ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21917757 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9743 diabetic neuropathy ISO RGD:1551988 D RGD:9068941 20200609 RGD PMID:17976390|PMID:21978940|REF_RGD_ID:5510012|REF_RGD_ID:5683915 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:987 alopecia ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 8753441 Parp1 poly(ADP-ribose) polymerase 1 gene DOID:9970 obesity ISO RGD:1345118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561897 8753468 Foxo3 forkhead box O3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1319403 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8753468 Foxo3 forkhead box O3 gene DOID:0050902 medulloblastoma ISO RGD:1319403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 8753468 Foxo3 forkhead box O3 gene DOID:0080147 lymphoblastic lymphoma ISO RGD:1553155 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 8753468 Foxo3 forkhead box O3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8753468 Foxo3 forkhead box O3 gene DOID:10283 prostate cancer ISO RGD:1319403 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in tumor vs adjacent normal tissue (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 8753468 Foxo3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1319403 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:23585551|REF_RGD_ID:7327146 8753468 Foxo3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1319403 D RGD:9068941 20200609 RGD protein:increased expression:lymphoblast,nucleus: PMID:23153928|REF_RGD_ID:10402185 8753468 Foxo3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1553155 D RGD:9068941 20200609 RGD protein:altered expression:cortical neuron,nucleus: PMID:23661003|REF_RGD_ID:10402187 8753468 Foxo3 forkhead box O3 gene DOID:10652 Alzheimer's disease ISO RGD:1553155 D RGD:9068941 20211126 RGD protein:increased expression:hippocampal neuron (mouse) PMID:28157684|REF_RGD_ID:11061905 8753468 Foxo3 forkhead box O3 gene DOID:1824 status epilepticus ISO RGD:1553155 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus,mitochondrion: PMID:23278239|REF_RGD_ID:10402198 8753468 Foxo3 forkhead box O3 gene DOID:255 hemangioma ISO RGD:1553155 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 8753468 Foxo3 forkhead box O3 gene DOID:2870 endometrial adenocarcinoma severity ISO RGD:1319403 D RGD:9068941 20200609 RGD associated with Obesity;protein:decreased expression:endometrium (human) PMID:26045339|REF_RGD_ID:11530998 8753468 Foxo3 forkhead box O3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23099361 8753468 Foxo3 forkhead box O3 gene DOID:3328 temporal lobe epilepsy ISO RGD:1319403 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus,mitochondrion: PMID:23278239|REF_RGD_ID:10402198 8753468 Foxo3 forkhead box O3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19380174 8753468 Foxo3 forkhead box O3 gene DOID:3910 lung adenocarcinoma ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19380174 8753468 Foxo3 forkhead box O3 gene DOID:5082 liver cirrhosis ISO RGD:1319403 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:33372984 8753468 Foxo3 forkhead box O3 gene DOID:5117 dermoid cyst of ovary ISO RGD:1553155 D RGD:9068941 20220825 MouseDO OMIM:166950 8753468 Foxo3 forkhead box O3 gene DOID:5648 choroid plexus carcinoma ISO RGD:1319403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:26822237 8753468 Foxo3 forkhead box O3 gene DOID:630 genetic disease ISO RGD:1319403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753468 Foxo3 forkhead box O3 gene DOID:7148 rheumatoid arthritis ISO RGD:1319403 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium: PMID:19435720|REF_RGD_ID:10402186 8753468 Foxo3 forkhead box O3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309196 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord,neuron, astrocyte: PMID:22930444|REF_RGD_ID:10402202 8753468 Foxo3 forkhead box O3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27742544 8753468 Foxo3 forkhead box O3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1309196 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex,nucleus: PMID:24229603|REF_RGD_ID:10402203 8753468 Foxo3 forkhead box O3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1309196 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased phosphorylation:heart: PMID:18192848|REF_RGD_ID:2293330 8753468 Foxo3 forkhead box O3 gene DOID:9004994 Embryo Loss ISO RGD:1319403 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 8753468 Foxo3 forkhead box O3 gene DOID:9005396 Intimal Hyperplasia ISO RGD:1319403 D RGD:9068941 20200609 RGD PMID:15662024|REF_RGD_ID:10402197 8753468 Foxo3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309196 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:12683947|REF_RGD_ID:10402199 8753468 Foxo3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309196 D RGD:9068941 20200609 RGD protein:increased phosphorylation, increased expression:glomerulus, cytoplasm: PMID:17082237|REF_RGD_ID:10402196 8753468 Foxo3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186|PMID:23792339 8753468 Foxo3 forkhead box O3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1553155 D RGD:9068941 20200609 RGD protein:increased phosphorylation, increased expression:glomerulus, cytoplasm: PMID:17082237|REF_RGD_ID:10402196 8753468 Foxo3 forkhead box O3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:1309196 D RGD:9068941 20200609 RGD PMID:15662024|REF_RGD_ID:10402197 8753468 Foxo3 forkhead box O3 gene DOID:9007479 Habitual Abortions ISO RGD:1319403 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 8753468 Foxo3 forkhead box O3 gene DOID:9970 obesity ISO RGD:1309196 D RGD:9068941 20200609 RGD protein:increased expression:myocardium: PMID:16467659|REF_RGD_ID:10402201 8753468 Foxo3 forkhead box O3 gene DOID:9970 obesity ISO RGD:1319403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 8753486 Cdca8 cell division cycle associated 8 gene DOID:0080600 COVID-19 ISO RGD:1346860 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8753486 Cdca8 cell division cycle associated 8 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8753486 Cdca8 cell division cycle associated 8 gene DOID:630 genetic disease ISO RGD:1346860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753486 Cdca8 cell division cycle associated 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1346860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8753486 Cdca8 cell division cycle associated 8 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346860 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8753505 LOC102013528 olfactory receptor 8I2 gene DOID:1059 intellectual disability ISO RGD:1352416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8753505 LOC102013528 olfactory receptor 8I2 gene DOID:630 genetic disease ISO RGD:1352416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0050453 lissencephaly ISO RGD:1313480 D RGD:9068941 20200609 RGD DNA:missense mutation:exonp.G726R (c.2176G>A) (human) PMID:17559086|REF_RGD_ID:11065022 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pagon syndrome PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:27854218|PMID:28492532 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313480 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1313480 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:15894594|PMID:18414213|PMID:24183756|PMID:25741868|PMID:27457812|PMID:27854218|PMID:28492532|PMID:29175898|PMID:30060766|PMID:31127727|PMID:32528171|PMID:33124102|PMID:33200426|PMID:34413876 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N ISO RGD:1313480 D RGD:7240710 20180130 OMIM 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N ISO RGD:1313480 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 PMID:15894594|PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:17923109|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:24002165|PMID:24033266|PMID:25214167|PMID:25741868|PMID:26467025|PMID:27447704|PMID:27457812|PMID:27854218|PMID:28492532|PMID:29175898|PMID:29382405|PMID:30060766|PMID:31127727|PMID:32404165|PMID:32528171|PMID:33176815|PMID:33200426|PMID:34413876|PMID:9536098 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1313480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:17559086|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1313480 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:15894594|PMID:17559086|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:29175898|PMID:29382405|PMID:30060766|PMID:30091983|PMID:31127727|PMID:32494558|PMID:32528171|PMID:33124102|PMID:33200426|PMID:34413876 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 ISO RGD:1313480 D RGD:7240710 20180130 OMIM 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 ISO RGD:1313480 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 PMID:15894594|PMID:16199547|PMID:16701995|PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:17923109|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:22323514|PMID:22700954|PMID:22958903|PMID:24002165|PMID:24033266|PMID:24183756|PMID:25214167|PMID:25267602|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26495167|PMID:26886200|PMID:27447704|PMID:27457812|PMID:27854218|PMID:27894351|PMID:28492532|PMID:28688748|PMID:28973083|PMID:28980384|PMID:29175898|PMID:29382405|PMID:30060766|PMID:30091983|PMID:31127727|PMID:32140910|PMID:32494558|PMID:32528171|PMID:33124102|PMID:33176815|PMID:33200426|PMID:34413876|PMID:35628876|PMID:36048137|PMID:9536098 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1313480 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 ISO RGD:1313480 D RGD:7240710 20180130 OMIM 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 ISO RGD:1313480 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED PMID:15894594|PMID:16701995|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:18513969|PMID:19138766|PMID:19299310|PMID:24002165|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:9536098 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1313480 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:17923109|PMID:25214167|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28973083|PMID:30060766|PMID:32528171|PMID:33176815|PMID:34413876 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:1909 melanoma ISO RGD:1313480 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1313480 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15894594|PMID:25741868|PMID:28492532|PMID:28815891 8753509 Pomt2 protein O-mannosyltransferase 2 gene DOID:9884 muscular dystrophy ISO RGD:1313480 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:15894594|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:27854218|PMID:28492532 8753565 Rplp1 ribosomal protein lateral stalk subunit P1 gene DOID:2717 Bloom syndrome ISO RGD:736952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8753565 Rplp1 ribosomal protein lateral stalk subunit P1 gene DOID:630 genetic disease ISO RGD:736952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753565 Rplp1 ribosomal protein lateral stalk subunit P1 gene DOID:9256 colorectal cancer ISO RGD:736952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8753575 Tmem184b transmembrane protein 184B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8753575 Tmem184b transmembrane protein 184B gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1315295 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8753575 Tmem184b transmembrane protein 184B gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1315295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8753575 Tmem184b transmembrane protein 184B gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8753575 Tmem184b transmembrane protein 184B gene DOID:630 genetic disease ISO RGD:1315295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753575 Tmem184b transmembrane protein 184B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8753593 Atp6v1d ATPase H+ transporting V1 subunit D gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1348353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 8753593 Atp6v1d ATPase H+ transporting V1 subunit D gene DOID:630 genetic disease ISO RGD:1348353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753593 Atp6v1d ATPase H+ transporting V1 subunit D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8753593 Atp6v1d ATPase H+ transporting V1 subunit D gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8753609 Ca14 carbonic anhydrase 14 gene DOID:0111940 immunodeficiency 42 ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8753609 Ca14 carbonic anhydrase 14 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8753609 Ca14 carbonic anhydrase 14 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8753609 Ca14 carbonic anhydrase 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8753609 Ca14 carbonic anhydrase 14 gene DOID:5812 MHC class II deficiency ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8753609 Ca14 carbonic anhydrase 14 gene DOID:630 genetic disease ISO RGD:1317436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753609 Ca14 carbonic anhydrase 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8753630 Taf11 TATA-box binding protein associated factor 11 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1313766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8753630 Taf11 TATA-box binding protein associated factor 11 gene DOID:630 genetic disease ISO RGD:1313766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1313408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1313408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1313408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1313408 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:0111995 immunodeficiency 28 ISO RGD:1313408 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:28492532 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:10533 viral pneumonia disease_progression ISO RGD:1313409 D RGD:9068941 20200609 RGD PMID:21383977|REF_RGD_ID:5490272 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1313409 D RGD:9068941 20210326 RGD DNA:mutation: : PMID:28878077|REF_RGD_ID:124715467 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:1883 hepatitis C resistance ISO RGD:1313408 D RGD:9068941 20200609 RGD PMID:21756311|REF_RGD_ID:5147491 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:552 pneumonia resistance ISO RGD:1313409 D RGD:9068941 20200609 RGD Cryptococcus (yeast) pneumonia PMID:18566423|REF_RGD_ID:5490275 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:630 genetic disease ISO RGD:1313408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:8704 genital herpes exacerbates ISO RGD:1313409 D RGD:9068941 20210402 RGD PMID:28264883|REF_RGD_ID:125093738 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:874 bacterial pneumonia severity ISO RGD:1313409 D RGD:9068941 20200609 RGD PMID:19487810|REF_RGD_ID:5490274 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9001049 Staphylococcal Pneumonia susceptibility ISO RGD:1313409 D RGD:9068941 20200609 RGD PMID:19603548|REF_RGD_ID:5490273 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9004531 Cardiovirus Infections ISO RGD:1305399 D RGD:9068941 20201211 RGD PMID:27999109|REF_RGD_ID:12910492 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9004531 Cardiovirus Infections susceptibility ISO RGD:1305399 D RGD:9068941 20200609 RGD PMID:27999109|REF_RGD_ID:12910492 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305399 D RGD:9068941 20200609 RGD PMID:27999109|REF_RGD_ID:12910492 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1313408 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9006471 Immunodeficiency 106 ISO RGD:1313408 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 106, susceptibility to viral infections PMID:25741868|PMID:28492532|PMID:31270247|PMID:32960813|PMID:33252644|PMID:34713375|PMID:35091979|PMID:35442418|PMID:35708626 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:9006471 Immunodeficiency 106 susceptibility ISO RGD:1313408 D RGD:7240710 20220720 OMIM 8753643 Ifnar1 interferon alpha and beta receptor subunit 1 gene DOID:934 viral infectious disease ISO RGD:1313408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18722370 8753675 LOC102020806 olfactory receptor 14I1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349157 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8753675 LOC102020806 olfactory receptor 14I1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8753675 LOC102020806 olfactory receptor 14I1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8753680 Ppp1r3e protein phosphatase 1 regulatory subunit 3E gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8753680 Ppp1r3e protein phosphatase 1 regulatory subunit 3E gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 8753680 Ppp1r3e protein phosphatase 1 regulatory subunit 3E gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318988 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8753689 Cidec cell death inducing DFFA like effector c gene DOID:0050440 familial partial lipodystrophy ISO RGD:1354006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8753689 Cidec cell death inducing DFFA like effector c gene DOID:0070203 familial partial lipodystrophy type 5 ISO RGD:1354006 D RGD:7240710 20180130 OMIM 8753689 Cidec cell death inducing DFFA like effector c gene DOID:0070203 familial partial lipodystrophy type 5 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS PMID:18654663|PMID:20049731|PMID:25741868 8753689 Cidec cell death inducing DFFA like effector c gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 8753689 Cidec cell death inducing DFFA like effector c gene DOID:2843 long QT syndrome ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8753689 Cidec cell death inducing DFFA like effector c gene DOID:3042 allergic contact dermatitis ISO RGD:1354006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8753689 Cidec cell death inducing DFFA like effector c gene DOID:630 genetic disease ISO RGD:1354006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753689 Cidec cell death inducing DFFA like effector c gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8753689 Cidec cell death inducing DFFA like effector c gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 8753689 Cidec cell death inducing DFFA like effector c gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1354006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8753696 Abhd10 abhydrolase domain containing 10, depalmitoylase gene DOID:630 genetic disease ISO RGD:1346003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753713 Syce1 synaptonemal complex central element protein 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1352832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8753713 Syce1 synaptonemal complex central element protein 1 gene DOID:0070172 spermatogenic failure 15 ISO RGD:1352832 D RGD:7240710 20190315 OMIM 8753713 Syce1 synaptonemal complex central element protein 1 gene DOID:0070172 spermatogenic failure 15 ISO RGD:1352832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 15 PMID:25899990 8753713 Syce1 synaptonemal complex central element protein 1 gene DOID:0080869 primary ovarian insufficiency 12 ISO RGD:1352832 D RGD:7240710 20190315 OMIM 8753713 Syce1 synaptonemal complex central element protein 1 gene DOID:0080869 primary ovarian insufficiency 12 ISO RGD:1352832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 12 PMID:25062452|PMID:32917591 8753713 Syce1 synaptonemal complex central element protein 1 gene DOID:13938 amenorrhea ISO RGD:1352832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8753713 Syce1 synaptonemal complex central element protein 1 gene DOID:630 genetic disease ISO RGD:1352832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753734 Ttc17 tetratricopeptide repeat domain 17 gene DOID:1059 intellectual disability ISO RGD:1313426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8753734 Ttc17 tetratricopeptide repeat domain 17 gene DOID:630 genetic disease ISO RGD:1313426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753767 Fabp7 fatty acid binding protein 7 gene DOID:1826 epilepsy ISO RGD:1353760 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8753767 Fabp7 fatty acid binding protein 7 gene DOID:3068 glioblastoma severity ISO RGD:1353760 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain (human) PMID:15827123|REF_RGD_ID:1578468 8753767 Fabp7 fatty acid binding protein 7 gene DOID:630 genetic disease ISO RGD:1353760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753767 Fabp7 fatty acid binding protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8753767 Fabp7 fatty acid binding protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1353760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22322885 8753777 Gorasp1 golgi reassembly stacking protein 1 gene DOID:630 genetic disease ISO RGD:1348402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753807 Wee1 WEE1 G2 checkpoint kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317355 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:34664776 8753807 Wee1 WEE1 G2 checkpoint kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 8753807 Wee1 WEE1 G2 checkpoint kinase gene DOID:630 genetic disease ISO RGD:1317355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753840 Cope COPI coat complex subunit epsilon gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1315598 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 8753840 Cope COPI coat complex subunit epsilon gene DOID:630 genetic disease ISO RGD:1315598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753840 Cope COPI coat complex subunit epsilon gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1315598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8753860 Acyp2 acylphosphatase 2 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1350765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis 8753860 Acyp2 acylphosphatase 2 gene DOID:630 genetic disease ISO RGD:1350765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753860 Acyp2 acylphosphatase 2 gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:1350765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25665007 8753866 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1604576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8753866 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:1612 breast cancer ISO RGD:1604576 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary breast cancer, ABRAXAS1-related | ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 8753866 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 8753866 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:630 genetic disease ISO RGD:1604576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8753866 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24240112|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28166811|PMID:28492532|PMID:31159747|PMID:31361614|PMID:31980526 8753866 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604576 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17525340|PMID:17643121|PMID:22357538|PMID:24240112|PMID:25503501|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31000350|PMID:31159747|PMID:31361614|PMID:31630195|PMID:31980526|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34117267 8753866 Abraxas1 abraxas 1, BRCA1 A complex subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604576 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:17525340|PMID:17643121|PMID:22357538|PMID:24240112|PMID:25503501|PMID:25741868|PMID:26556299|PMID:26845104|PMID:27270457|PMID:28492532|PMID:31000350|PMID:31159747|PMID:31248605|PMID:31361614|PMID:31630195|PMID:31980526|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34117267 8753880 Add2 adducin 2 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:10087 D RGD:9068941 20220825 MouseDO OMIM:182900 8753880 Add2 adducin 2 gene DOID:10763 hypertension ISO RGD:2042 D RGD:9068941 20200609 RGD PMID:2059221|REF_RGD_ID:631712 8753880 Add2 adducin 2 gene DOID:10763 hypertension ISO RGD:736575 D RGD:9068941 20200609 RGD DNA:SNP: :rs4852706 (human) PMID:24652215|REF_RGD_ID:10047131 8753880 Add2 adducin 2 gene DOID:10763 hypertension no_association ISO RGD:736575 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16497648|REF_RGD_ID:1625293 8753880 Add2 adducin 2 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:736575 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: rs4984(human) PMID:19838659|REF_RGD_ID:7174725 8753880 Add2 adducin 2 gene DOID:576 proteinuria ISO RGD:10087 D RGD:9068941 20200609 RGD PMID:19838659|REF_RGD_ID:7174725 8753880 Add2 adducin 2 gene DOID:630 genetic disease ISO RGD:736575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753907 Cpne8 copine 8 gene DOID:630 genetic disease ISO RGD:1317425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753937 Cdip1 cell death inducing p53 target 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8753937 Cdip1 cell death inducing p53 target 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1321732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8753937 Cdip1 cell death inducing p53 target 1 gene DOID:1826 epilepsy ISO RGD:1321732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8753937 Cdip1 cell death inducing p53 target 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321732 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8753937 Cdip1 cell death inducing p53 target 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1321732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8753937 Cdip1 cell death inducing p53 target 1 gene DOID:630 genetic disease ISO RGD:1321732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8753956 Cers3 ceramide synthase 3 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1319080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8753956 Cers3 ceramide synthase 3 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1319080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lamellar ichthyosis PMID:28875980|PMID:30578701|PMID:33492757 8753956 Cers3 ceramide synthase 3 gene DOID:0060718 autosomal recessive congenital ichthyosis 9 ISO RGD:1319080 D RGD:7240710 20180130 OMIM 8753956 Cers3 ceramide synthase 3 gene DOID:0060718 autosomal recessive congenital ichthyosis 9 ISO RGD:1319080 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 PMID:23549421|PMID:23754960|PMID:25741868|PMID:28492532 8753956 Cers3 ceramide synthase 3 gene DOID:10283 prostate cancer ISO RGD:1319080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8753956 Cers3 ceramide synthase 3 gene DOID:630 genetic disease ISO RGD:1319080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8753956 Cers3 ceramide synthase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8753974 Dld dihydrolipoamide dehydrogenase gene DOID:0112230 lissencephaly 5 ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 5 PMID:25741868|PMID:28492532 8753974 Dld dihydrolipoamide dehydrogenase gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 8753974 Dld dihydrolipoamide dehydrogenase gene DOID:3652 Leigh disease ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 8753974 Dld dihydrolipoamide dehydrogenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8753974 Dld dihydrolipoamide dehydrogenase gene DOID:630 genetic disease ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11186938|PMID:11687750|PMID:14765544|PMID:15712224|PMID:15946682|PMID:16442803|PMID:16601893|PMID:16770810|PMID:17125710|PMID:18362926|PMID:20672374|PMID:21558426|PMID:21930696|PMID:23290025|PMID:23478190|PMID:23995961|PMID:24012808|PMID:24516753|PMID:25741868|PMID:27144126|PMID:27290639|PMID:27544700|PMID:28492532|PMID:9540846|PMID:9934985 8753974 Dld dihydrolipoamide dehydrogenase gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1348290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 8753974 Dld dihydrolipoamide dehydrogenase gene DOID:9002135 Congenital Infantile Lactic Acidosis due to LAD Deficiency ISO RGD:1348290 D RGD:7240710 20180130 OMIM 8753974 Dld dihydrolipoamide dehydrogenase gene DOID:9002135 Congenital Infantile Lactic Acidosis due to LAD Deficiency ISO RGD:1348290 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 PMID:10448086|PMID:11186938|PMID:11687750|PMID:12925875|PMID:1347528|PMID:14765544|PMID:15712224|PMID:15946682|PMID:16199547|PMID:1640293|PMID:16442803|PMID:16601893|PMID:16770810|PMID:17125710|PMID:17404228|PMID:17576681|PMID:18362926|PMID:20652410|PMID:20672374|PMID:21558426|PMID:21930696|PMID:21996136|PMID:23290025|PMID:23478190|PMID:23995961|PMID:24012808|PMID:24516753|PMID:25251739|PMID:25356417|PMID:25741868|PMID:25741884|PMID:27144126|PMID:27290639|PMID:27544700|PMID:27896107|PMID:28492532|PMID:31334547|PMID:31683770|PMID:33092611|PMID:33306821|PMID:34426522|PMID:34684524|PMID:3769994|PMID:7797549|PMID:8506365|PMID:8652022|PMID:8968745|PMID:9298831|PMID:9536098|PMID:9540846|PMID:9934985 8753974 Dld dihydrolipoamide dehydrogenase gene DOID:9269 maple syrup urine disease ISO RGD:1348290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:25741868|PMID:28492532 8753995 Rpp40 ribonuclease P/MRP subunit p40 gene DOID:630 genetic disease ISO RGD:1321008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754010 Cnot4 CCR4-NOT transcription complex subunit 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8754010 Cnot4 CCR4-NOT transcription complex subunit 4 gene DOID:630 genetic disease ISO RGD:1321153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754045 Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1318933 D RGD:9068941 20200609 RGD DNA:SNPs:intron: A>G, C>G (human) PMID:15913795|REF_RGD_ID:6771190 8754045 Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1318933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 8754045 Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1318933 D RGD:9068941 20200609 RGD DNA:SNP:intron: C>T (human) PMID:15913795|REF_RGD_ID:6771190 8754045 Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:630 genetic disease ISO RGD:1318933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754045 Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif 14 gene DOID:8398 osteoarthritis ISO RGD:1318933 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs4747096) (human) PMID:18790654|REF_RGD_ID:6771189 8754077 Myrf myelin regulatory factor gene DOID:0050773 paraganglioma ISO RGD:1315345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 8754077 Myrf myelin regulatory factor gene DOID:0080634 nanophthalmos ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:mutations:cds: PMID:31048900|REF_RGD_ID:197810045 8754077 Myrf myelin regulatory factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8754077 Myrf myelin regulatory factor gene DOID:10283 prostate cancer ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8754077 Myrf myelin regulatory factor gene DOID:1059 intellectual disability ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8754077 Myrf myelin regulatory factor gene DOID:1405 primary angle-closure glaucoma ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:mutations:multiple: PMID:36129575|REF_RGD_ID:199225554 8754077 Myrf myelin regulatory factor gene DOID:1682 congenital heart disease ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:30532227 8754077 Myrf myelin regulatory factor gene DOID:1826 epilepsy ISO RGD:1315345 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8754077 Myrf myelin regulatory factor gene DOID:1923 disorder of sexual development ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868 8754077 Myrf myelin regulatory factor gene DOID:3526 cerebral infarction ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:SNP:exon:rs174535(human) PMID:36193932|REF_RGD_ID:213230151 8754077 Myrf myelin regulatory factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1315345 D RGD:9068941 20240229 RGD DNA:mutations:multiple: PMID:30532227|REF_RGD_ID:200226345 8754077 Myrf myelin regulatory factor gene DOID:4297 scimitar syndrome ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scimitar syndrome PMID:25741868 8754077 Myrf myelin regulatory factor gene DOID:630 genetic disease ISO RGD:1315345 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8754077 Myrf myelin regulatory factor gene DOID:8466 retinal degeneration ISO RGD:1615698 D RGD:9068941 20230323 RGD PMID:31048900|REF_RGD_ID:197810045 8754077 Myrf myelin regulatory factor gene DOID:9000039 Spinal Cord Injuries ameliorates ISO RGD:1306622 D RGD:9068941 20230323 RGD PMID:27370227|REF_RGD_ID:213230157 8754077 Myrf myelin regulatory factor gene DOID:9000486 Nanophthalmos 1 ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 1 8754077 Myrf myelin regulatory factor gene DOID:9003497 Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization ISO RGD:1315345 D RGD:7240710 20190417 OMIM 8754077 Myrf myelin regulatory factor gene DOID:9003497 Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalitis/encephalopathy, mild, with reversible myelin vacuolization PMID:20042198|PMID:25741868|PMID:29265453 8754077 Myrf myelin regulatory factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315345 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8754077 Myrf myelin regulatory factor gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1315345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 8754077 Myrf myelin regulatory factor gene DOID:9007553 neurotoxicity treatment ISO RGD:1306622 D RGD:9068941 20230323 RGD PMID:33166664|REF_RGD_ID:213230154 8754077 Myrf myelin regulatory factor gene DOID:9007788 Cardiac-Urogenital Syndrome ISO RGD:1315345 D RGD:7240710 20190501 OMIM 8754077 Myrf myelin regulatory factor gene DOID:9007788 Cardiac-Urogenital Syndrome ISO RGD:1315345 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Cardiac-urogenital syndrome | ClinVar Annotator: match by term: MYRF-related condition PMID:25741868|PMID:28492532|PMID:29446546|PMID:30070761|PMID:30532227|PMID:30985895|PMID:31266062|PMID:31633846|PMID:34782754 8754077 Myrf myelin regulatory factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:1306622 D RGD:9068941 20230323 RGD mRNA:decreased expression: oligodendrocyte PMID:29915135|REF_RGD_ID:213230153 8754077 Myrf myelin regulatory factor gene DOID:9008386 Hydrops Fetalis ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 8754077 Myrf myelin regulatory factor gene DOID:9008582 Developmental Disease ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8754077 Myrf myelin regulatory factor gene DOID:9565 dextrocardia ISO RGD:1315345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia PMID:25741868|PMID:30532227 8754077 Myrf myelin regulatory factor gene DOID:9834 hyperopia ISO RGD:1315345 D RGD:9068941 20230323 RGD DNA:mutations:multiple: PMID:36129575|REF_RGD_ID:199225554 8754107 Pygb glycogen phosphorylase B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8754107 Pygb glycogen phosphorylase B gene DOID:630 genetic disease ISO RGD:736182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754107 Pygb glycogen phosphorylase B gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:736182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8754107 Pygb glycogen phosphorylase B gene DOID:9007102 Myocardial Ischemia ISO RGD:736182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8754107 Pygb glycogen phosphorylase B gene DOID:9007661 Dwarfism ISO RGD:736182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8754136 Sgca sarcoglycan alpha gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 8754136 Sgca sarcoglycan alpha gene DOID:0050700 cardiomyopathy ISO RGD:1317616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:12746421|PMID:18285821|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31931849 8754136 Sgca sarcoglycan alpha gene DOID:0050700 cardiomyopathy ISO RGD:1317616 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:12746421|PMID:18285821|PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:31931849|PMID:34426522 8754136 Sgca sarcoglycan alpha gene DOID:0060224 atrial fibrillation ISO RGD:1317616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8754136 Sgca sarcoglycan alpha gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1317616 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:10942431|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15298081|PMID:17994539|PMID:18285821|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:21031578|PMID:22095924|PMID:24033266|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31069529|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:35948506|PMID:7663524|PMID:7668821|PMID:8069911|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9393893|PMID:9585331 8754136 Sgca sarcoglycan alpha gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1317616 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:10942431|PMID:10993494|PMID:12075495|PMID:12566530|PMID:12746421|PMID:15298081|PMID:15833425|PMID:17994539|PMID:18285821|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19798725|PMID:21031578|PMID:22095924|PMID:24033266|PMID:24464767|PMID:24565866|PMID:24742800|PMID:25135358|PMID:25214167|PMID:25741868|PMID:25898921|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:27120200|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30345904|PMID:30703231|PMID:30764848|PMID:30919934|PMID:31069529|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:35948506|PMID:7663524|PMID:7668821|PMID:8069911|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9393893|PMID:9455986|PMID:9585331 8754136 Sgca sarcoglycan alpha gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1317616 D RGD:7240710 20180130 OMIM 8754136 Sgca sarcoglycan alpha gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1317616 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Sarcoglycanopathy PMID:10842281|PMID:10942431|PMID:10993494|PMID:11121445|PMID:11475588|PMID:11693784|PMID:12075495|PMID:12566530|PMID:12746421|PMID:14595658|PMID:15298081|PMID:15736300|PMID:15833425|PMID:16199547|PMID:16616845|PMID:16778590|PMID:16787395|PMID:17562833|PMID:17576681|PMID:17994539|PMID:18252745|PMID:18285821|PMID:18414213|PMID:18421900|PMID:18535179|PMID:18996010|PMID:19781108|PMID:19798725|PMID:19835634|PMID:20623375|PMID:21031578|PMID:21856579|PMID:22095924|PMID:22303798|PMID:24033266|PMID:24464767|PMID:24565866|PMID:24742800|PMID:25046369|PMID:25106685|PMID:25135358|PMID:25214167|PMID:25741868|PMID:25802880|PMID:25898921|PMID:26404900|PMID:26453141|PMID:26467025|PMID:26916285|PMID:26934379|PMID:26944168|PMID:27066551|PMID:27120200|PMID:27363342|PMID:27671536|PMID:27906075|PMID:28403181|PMID:28492532|PMID:28687063|PMID:29351619|PMID:29382405|PMID:29970176|PMID:30107846|PMID:30218921|PMID:30345904|PMID:30564623|PMID:30703231|PMID:30764848|PMID:30838351|PMID:30919934|PMID:31061434|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31130284|PMID:31268554|PMID:31407473|PMID:31517061|PMID:31791368|PMID:31847883|PMID:31931849|PMID:32140910|PMID:32528171|PMID:32875335|PMID:33386810|PMID:33552634|PMID:34426522|PMID:35416532|PMID:35948506|PMID:7657792|PMID:7663524|PMID:7668821|PMID:8069911|PMID:8528203|PMID:8866424|PMID:9032047|PMID:9153448|PMID:9192266|PMID:9266733|PMID:9393893|PMID:9455986|PMID:9536098|PMID:9585331 8754136 Sgca sarcoglycan alpha gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D treatment ISO RGD:1317616 D RGD:9068941 20200609 RGD PMID:17653106|REF_RGD_ID:13605612 8754136 Sgca sarcoglycan alpha gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1317616 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:17078022|PMID:19344236|PMID:23949819|PMID:25741868|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7695699|PMID:7942841|PMID:8218237|PMID:9016532|PMID:9295084|PMID:9443882 8754136 Sgca sarcoglycan alpha gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1317616 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase PMID:28492532 8754136 Sgca sarcoglycan alpha gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1317616 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8754136 Sgca sarcoglycan alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 8754136 Sgca sarcoglycan alpha gene DOID:630 genetic disease ISO RGD:1317616 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8754136 Sgca sarcoglycan alpha gene DOID:767 muscular atrophy ISO RGD:1308062 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:12107060|REF_RGD_ID:625642 8754136 Sgca sarcoglycan alpha gene DOID:9884 muscular dystrophy ISO RGD:1317616 D RGD:9068941 20200609 RGD PMID:8069911|PMID:9192266|REF_RGD_ID:1599344|REF_RGD_ID:1599345 8754136 Sgca sarcoglycan alpha gene DOID:9884 muscular dystrophy ISO RGD:1317617 D RGD:9068941 20200609 RGD PMID:9744877|REF_RGD_ID:13605611 8754166 Meioc meiosis specific with coiled-coil domain gene DOID:630 genetic disease ISO RGD:1605246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754181 Vpreb3 V-set pre-B cell surrogate light chain 3 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1315630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 8754181 Vpreb3 V-set pre-B cell surrogate light chain 3 gene DOID:1826 epilepsy ISO RGD:1315630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8754181 Vpreb3 V-set pre-B cell surrogate light chain 3 gene DOID:5419 schizophrenia ISO RGD:1315630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8754181 Vpreb3 V-set pre-B cell surrogate light chain 3 gene DOID:630 genetic disease ISO RGD:1315630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754216 LOC102015352 olfactory receptor 10G3 gene DOID:630 genetic disease ISO RGD:1346604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754216 LOC102015352 olfactory receptor 10G3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346604 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8754244 Cfap298 cilia and flagella associated protein 298 gene DOID:0050545 visceral heterotaxy ISO RGD:1315861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 8754244 Cfap298 cilia and flagella associated protein 298 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1315861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8754244 Cfap298 cilia and flagella associated protein 298 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1315861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8754244 Cfap298 cilia and flagella associated protein 298 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1315861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8754244 Cfap298 cilia and flagella associated protein 298 gene DOID:0110627 primary ciliary dyskinesia 26 ISO RGD:1315861 D RGD:7240710 20180130 OMIM 8754244 Cfap298 cilia and flagella associated protein 298 gene DOID:0110627 primary ciliary dyskinesia 26 ISO RGD:1315861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 26 PMID:24094744|PMID:25741868|PMID:28492532 8754244 Cfap298 cilia and flagella associated protein 298 gene DOID:758 situs inversus ISO RGD:1315861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 8754244 Cfap298 cilia and flagella associated protein 298 gene DOID:9005698 ZTTK Syndrome ISO RGD:1315861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:0050646 distal arthrogryposis ISO RGD:1345467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:11152147|PMID:24726473|PMID:25741868|PMID:27714920|PMID:27974811|PMID:31680123|PMID:8423615 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:0111607 distal arthrogryposis type 3 ISO RGD:1345467 D RGD:7240710 20180130 OMIM 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:0111607 distal arthrogryposis type 3 ISO RGD:1345467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gordon syndrome PMID:11152147|PMID:24726473|PMID:25741868|PMID:27653382|PMID:27714920|PMID:27843126|PMID:28492532|PMID:30285720|PMID:31680123|PMID:8423615 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:0111608 distal arthrogryposis type 5 ISO RGD:1345467 D RGD:7240710 20180130 OMIM 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:0111608 distal arthrogryposis type 5 ISO RGD:1345467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome PMID:11152147|PMID:15103714|PMID:1941966|PMID:23487782|PMID:24726473|PMID:25741868|PMID:27714920|PMID:28492532|PMID:31680123|PMID:32860008|PMID:32901917|PMID:8423615|PMID:8533802 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:1059 intellectual disability ISO RGD:1345467 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:1969 cerebral palsy ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:423 myopathy ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:5419 schizophrenia ISO RGD:1345467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:543 dystonia ISO RGD:1345467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:630 genetic disease ISO RGD:1345467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11152147|PMID:15103714|PMID:24726473|PMID:25741868|PMID:27714920|PMID:28492532|PMID:31680123|PMID:8423615 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:9000467 Marden-Walker Syndrome ISO RGD:1345467 D RGD:7240710 20180130 OMIM 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:9000467 Marden-Walker Syndrome ISO RGD:1345467 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marden-Walker syndrome PMID:24726473|PMID:25741868|PMID:28492532 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:9001276 Failure to Thrive ISO RGD:1345467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:9005963 Distal Arthrogryposis, with Impaired Proprioception and Touch ISO RGD:1345467 D RGD:7240710 20190315 OMIM 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:9005963 Distal Arthrogryposis, with Impaired Proprioception and Touch ISO RGD:1345467 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch PMID:11152147|PMID:17576681|PMID:24726473|PMID:25741868|PMID:27607563|PMID:27653382|PMID:27714920|PMID:27843126|PMID:27974811|PMID:28492532|PMID:31680123|PMID:8423615|PMID:9536098 8754261 Piezo2 piezo type mechanosensitive ion channel component 2 gene DOID:9006836 Contracture ISO RGD:1345467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8754321 Shpk sedoheptulokinase gene DOID:1064 cystinosis ISO RGD:1317524 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:25741868|PMID:27734949|PMID:9537412|PMID:9792862 8754321 Shpk sedoheptulokinase gene DOID:3613 Canavan disease ISO RGD:1317524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8754321 Shpk sedoheptulokinase gene DOID:630 genetic disease ISO RGD:1317524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:21546516|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8754321 Shpk sedoheptulokinase gene DOID:9001808 SEDOHEPTULOKINASE DEFICIENCY ISO RGD:1317524 D RGD:7240710 20190315 OMIM 8754321 Shpk sedoheptulokinase gene DOID:9001808 SEDOHEPTULOKINASE DEFICIENCY ISO RGD:1317524 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated sedoheptulokinase deficiency PMID:25647543|PMID:25741868|PMID:28492532 8754321 Shpk sedoheptulokinase gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1317524 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:25741868|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 8754321 Shpk sedoheptulokinase gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:1317524 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:25741868|PMID:27734949|PMID:9537412|PMID:9792862 8754321 Shpk sedoheptulokinase gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1317524 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:25741868|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 8754332 Il25 interleukin 25 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1344819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8754332 Il25 interleukin 25 gene DOID:10808 gastric ulcer treatment ISO RGD:1561632 D RGD:9068941 20201218 RGD PMID:26054198|REF_RGD_ID:40902976 8754332 Il25 interleukin 25 gene DOID:2841 asthma ISO RGD:1557614 D RGD:9068941 20201218 RGD mRNA, protein:increased expression:lung PMID:25273095|REF_RGD_ID:39128256 8754332 Il25 interleukin 25 gene DOID:3310 atopic dermatitis ISO RGD:1344819 D RGD:9068941 20201218 RGD protein:increased expression:arm skin PMID:23657503|REF_RGD_ID:39128244 8754332 Il25 interleukin 25 gene DOID:630 genetic disease ISO RGD:1344819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754332 Il25 interleukin 25 gene DOID:8893 psoriasis ISO RGD:1344819 D RGD:9068941 20201218 RGD protein:increased expression:arm skin PMID:23657503|REF_RGD_ID:39128244 8754332 Il25 interleukin 25 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1557614 D RGD:9068941 20201218 RGD PMID:19118508|REF_RGD_ID:39456129 8754332 Il25 interleukin 25 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1344819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 8754332 Il25 interleukin 25 gene DOID:9000917 Amoebic Dysentery due to Entamoeba Histolytica ISO RGD:1344819 D RGD:9068941 20201218 RGD protein:decreased expression:intestine PMID:28246365|REF_RGD_ID:39128243 8754332 Il25 interleukin 25 gene DOID:9000917 Amoebic Dysentery due to Entamoeba Histolytica ISO RGD:1557614 D RGD:9068941 20201218 RGD protein:decreased expression:intestine PMID:28246365|REF_RGD_ID:39128243 8754332 Il25 interleukin 25 gene DOID:9003470 Picornaviridae Infections ISO RGD:1344819 D RGD:9068941 20201218 RGD protein:increased expression:nasal mucus PMID:25273095|REF_RGD_ID:39128256 8754332 Il25 interleukin 25 gene DOID:9003470 Picornaviridae Infections ISO RGD:1557614 D RGD:9068941 20201218 RGD mRNA, protein:increased expression:lung PMID:25273095|REF_RGD_ID:39128256 8754332 Il25 interleukin 25 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8754332 Il25 interleukin 25 gene DOID:9415 allergic asthma treatment ISO RGD:1557614 D RGD:9068941 20201218 RGD PMID:17889290|REF_RGD_ID:40902975 8754338 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:0060673 Peters anomaly ISO RGD:1322218 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459|PMID:28492532 8754338 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:0070411 autosomal recessive spinocerebellar ataxia 30 ISO RGD:1322218 D RGD:7240710 20210728 OMIM 8754338 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:0070411 autosomal recessive spinocerebellar ataxia 30 ISO RGD:1322218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30 PMID:26697887|PMID:29383861|PMID:29764912 8754338 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:1322218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia PMID:29764912 8754338 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:5419 schizophrenia ISO RGD:1322218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8754338 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1322218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8754338 Pitrm1 pitrilysin metallopeptidase 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1322218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29216386 8754373 Nat8l N-acetyltransferase 8 like gene DOID:10907 microcephaly ISO RGD:1602409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8754373 Nat8l N-acetyltransferase 8 like gene DOID:1856 cherubism ISO RGD:1602409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8754373 Nat8l N-acetyltransferase 8 like gene DOID:630 genetic disease ISO RGD:1602409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754373 Nat8l N-acetyltransferase 8 like gene DOID:9004612 N-Acetylaspartate Deficiency ISO RGD:1602409 D RGD:7240710 20180130 OMIM 8754373 Nat8l N-acetyltransferase 8 like gene DOID:9004612 N-Acetylaspartate Deficiency ISO RGD:1602409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: N-acetylaspartate deficiency PMID:19807691 8754380 Banf1 BAF nuclear assembly factor 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1342836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8754380 Banf1 BAF nuclear assembly factor 1 gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1342836 D RGD:7240710 20180130 OMIM 8754380 Banf1 BAF nuclear assembly factor 1 gene DOID:0081334 Nestor-Guillermo progeria syndrome ISO RGD:1342836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome PMID:21549337|PMID:23720404|PMID:28492532 8754380 Banf1 BAF nuclear assembly factor 1 gene DOID:1059 intellectual disability ISO RGD:1342836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8754380 Banf1 BAF nuclear assembly factor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8754380 Banf1 BAF nuclear assembly factor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1342836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8754380 Banf1 BAF nuclear assembly factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1342836 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (human) PMID:29059470|REF_RGD_ID:155791679 8754380 Banf1 BAF nuclear assembly factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620662 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (rat) PMID:29059470|REF_RGD_ID:155791679 8754380 Banf1 BAF nuclear assembly factor 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732240 D RGD:9068941 20230105 RGD PMID:29059470|REF_RGD_ID:155791679 8754380 Banf1 BAF nuclear assembly factor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1342836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8754380 Banf1 BAF nuclear assembly factor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1342836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8754387 Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 8754387 Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8754387 Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:1826 epilepsy ISO RGD:1312953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8754387 Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8754387 Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic gene DOID:630 genetic disease ISO RGD:1312953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754407 Sigirr single Ig and TIR domain containing gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8754407 Sigirr single Ig and TIR domain containing gene DOID:0080600 COVID-19 ISO RGD:1604804 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8754407 Sigirr single Ig and TIR domain containing gene DOID:0111969 immunodeficiency 39 ISO RGD:1604804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8754407 Sigirr single Ig and TIR domain containing gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8754407 Sigirr single Ig and TIR domain containing gene DOID:630 genetic disease ISO RGD:1604804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754435 Csmd1 CUB and Sushi multiple domains 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:28492532|PMID:35351988 8754435 Csmd1 CUB and Sushi multiple domains 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:30504930 8754435 Csmd1 CUB and Sushi multiple domains 1 gene DOID:12849 autistic disorder ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8754435 Csmd1 CUB and Sushi multiple domains 1 gene DOID:303 substance-related disorder ISO RGD:1312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8754435 Csmd1 CUB and Sushi multiple domains 1 gene DOID:5419 schizophrenia ISO RGD:1312937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8754435 Csmd1 CUB and Sushi multiple domains 1 gene DOID:630 genetic disease ISO RGD:1312937 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8754435 Csmd1 CUB and Sushi multiple domains 1 gene DOID:670 amphetamine abuse ISO RGD:1312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8754435 Csmd1 CUB and Sushi multiple domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8754435 Csmd1 CUB and Sushi multiple domains 1 gene DOID:8893 psoriasis ISO RGD:1312937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 8754511 Nol9 nucleolar protein 9 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605957 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8754511 Nol9 nucleolar protein 9 gene DOID:630 genetic disease ISO RGD:1605957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754511 Nol9 nucleolar protein 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8754528 Acap2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 gene DOID:630 genetic disease ISO RGD:1347120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754591 Rdh8 retinol dehydrogenase 8 gene DOID:12849 autistic disorder ISO RGD:1319361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8754591 Rdh8 retinol dehydrogenase 8 gene DOID:630 genetic disease ISO RGD:1319361 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754601 Rad18 RAD18 E3 ubiquitin protein ligase gene DOID:2843 long QT syndrome ISO RGD:1315923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8754601 Rad18 RAD18 E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1315923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754601 Rad18 RAD18 E3 ubiquitin protein ligase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8754601 Rad18 RAD18 E3 ubiquitin protein ligase gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1315923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1606832 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland (human) PMID:16492908|REF_RGD_ID:1581314 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:10652 Alzheimer's disease ISO RGD:1606832 D RGD:9068941 20200609 RGD protein:decreased expression:parietal cortex (human) PMID:9743567|REF_RGD_ID:1581317 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1550885 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:13580 cholestasis ISO RGD:1550885 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:13608 biliary atresia disease_progression ISO RGD:1606832 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:1612 breast cancer severity ISO RGD:1606832 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:14734471|REF_RGD_ID:1581315 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:1697 ichthyosis ISO RGD:1550885 D RGD:9068941 20200609 RGD PMID:18832587|REF_RGD_ID:10043094 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1606832 D RGD:9068941 20200609 RGD protein:decreased expression:ovarian epithelium (human) PMID:11948120|REF_RGD_ID:1581316 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:2717 Bloom syndrome ISO RGD:1606832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:5082 liver cirrhosis ISO RGD:1303138 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen: PMID:15086199|REF_RGD_ID:10043112 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:5517 stomach carcinoma severity ISO RGD:1606832 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach (human) PMID:16273651|REF_RGD_ID:1581312 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:630 genetic disease ISO RGD:1606832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606832 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon (human) PMID:16820046|REF_RGD_ID:1581311 8754620 Spint1 serine peptidase inhibitor, Kunitz type 1 gene DOID:9256 colorectal cancer ISO RGD:1606832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8754661 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:0050724 PSPH deficiency ISO RGD:1320361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 8754661 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:0080504 Parkinson's disease 22 ISO RGD:1320361 D RGD:7240710 20180130 OMIM 8754661 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:0080504 Parkinson's disease 22 ISO RGD:1320361 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant PMID:25662902|PMID:25741868|PMID:26067110|PMID:26067113|PMID:26561290|PMID:28492532|PMID:32068847 8754661 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1320361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8754661 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:2187 amelogenesis imperfecta ISO RGD:1320361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 8754661 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8754661 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 gene DOID:630 genetic disease ISO RGD:1320361 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8754673 Inip INTS3 and NABP interacting protein gene DOID:630 genetic disease ISO RGD:1317489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754680 Tenm4 teneurin transmembrane protein 4 gene DOID:0111432 essential tremor 5 ISO RGD:1312224 D RGD:7240710 20190315 OMIM 8754680 Tenm4 teneurin transmembrane protein 4 gene DOID:0111432 essential tremor 5 ISO RGD:1312224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 5 PMID:25741868|PMID:26188006 8754680 Tenm4 teneurin transmembrane protein 4 gene DOID:1059 intellectual disability ISO RGD:1312224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8754680 Tenm4 teneurin transmembrane protein 4 gene DOID:3312 bipolar disorder ISO RGD:1312224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21926972 8754680 Tenm4 teneurin transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:1312224 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8754680 Tenm4 teneurin transmembrane protein 4 gene DOID:674 cleft palate ISO RGD:1312224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate 8754721 Myl6 myosin light chain 6 gene DOID:630 genetic disease ISO RGD:1313756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754735 Egfl7 EGF like domain multiple 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8754735 Egfl7 EGF like domain multiple 7 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8754735 Egfl7 EGF like domain multiple 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602888 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8754735 Egfl7 EGF like domain multiple 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8754735 Egfl7 EGF like domain multiple 7 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8754735 Egfl7 EGF like domain multiple 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8754735 Egfl7 EGF like domain multiple 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602888 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8754735 Egfl7 EGF like domain multiple 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8754735 Egfl7 EGF like domain multiple 7 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602888 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8754735 Egfl7 EGF like domain multiple 7 gene DOID:1826 epilepsy ISO RGD:1602888 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8754735 Egfl7 EGF like domain multiple 7 gene DOID:3652 Leigh disease ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8754735 Egfl7 EGF like domain multiple 7 gene DOID:630 genetic disease ISO RGD:1602888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754735 Egfl7 EGF like domain multiple 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8754757 Kifc1 kinesin family member C1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1349353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8754757 Kifc1 kinesin family member C1 gene DOID:0060041 autism spectrum disorder ISO RGD:1349353 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8754757 Kifc1 kinesin family member C1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1349353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8754757 Kifc1 kinesin family member C1 gene DOID:0080600 COVID-19 ISO RGD:1349353 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8754757 Kifc1 kinesin family member C1 gene DOID:630 genetic disease ISO RGD:1349353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754757 Kifc1 kinesin family member C1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8754757 Kifc1 kinesin family member C1 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1349353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26177331 8754776 Eepd1 endonuclease/exonuclease/phosphatase family domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8754776 Eepd1 endonuclease/exonuclease/phosphatase family domain containing 1 gene DOID:630 genetic disease ISO RGD:1606501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754788 Mbd3l1 methyl-CpG binding domain protein 3 like 1 gene DOID:12849 autistic disorder ISO RGD:1317930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8754788 Mbd3l1 methyl-CpG binding domain protein 3 like 1 gene DOID:630 genetic disease ISO RGD:1317930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754799 Rusc1 RUN and SH3 domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8754799 Rusc1 RUN and SH3 domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8754799 Rusc1 RUN and SH3 domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8754799 Rusc1 RUN and SH3 domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8754799 Rusc1 RUN and SH3 domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8754799 Rusc1 RUN and SH3 domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8754799 Rusc1 RUN and SH3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1349680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754799 Rusc1 RUN and SH3 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8754814 Gyg1 glycogenin 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1348748 D RGD:7240710 20180130 OMIM 8754814 Gyg1 glycogenin 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1348748 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:16199547|PMID:17576681|PMID:20357282|PMID:22198226|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:26944241|PMID:27544502|PMID:27718144|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:31791869|PMID:32477874|PMID:32528171|PMID:34426522|PMID:34662886|PMID:9536098 8754814 Gyg1 glycogenin 1 gene DOID:2747 glycogen storage disease ISO RGD:1348748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357282 8754814 Gyg1 glycogenin 1 gene DOID:630 genetic disease ISO RGD:1348748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8754814 Gyg1 glycogenin 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1348748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357282 8754814 Gyg1 glycogenin 1 gene DOID:9002303 Polyglucosan Body Myopathy 2 ISO RGD:1348748 D RGD:7240710 20180130 OMIM 8754814 Gyg1 glycogenin 1 gene DOID:9002303 Polyglucosan Body Myopathy 2 ISO RGD:1348748 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy type 2 PMID:16199547|PMID:17576681|PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:26944241|PMID:27718144|PMID:28453664|PMID:28492532|PMID:29143313|PMID:29264399|PMID:29422440|PMID:31791869|PMID:32477874|PMID:32528171|PMID:34426522|PMID:34662886|PMID:9536098 8754814 Gyg1 glycogenin 1 gene DOID:9005532 Muscle Weakness ISO RGD:1348748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357282 8754814 Gyg1 glycogenin 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1348748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8754830 Cd300lb CD300 molecule like family member b gene DOID:630 genetic disease ISO RGD:1604243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754840 Esd esterase D gene DOID:630 genetic disease ISO RGD:1354034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754840 Esd esterase D gene DOID:8398 osteoarthritis ISO RGD:1354034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8754840 Esd esterase D gene DOID:9002669 Hypoxia ISO RGD:1354034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 8754851 Akna AT-hook transcription factor gene DOID:630 genetic disease ISO RGD:1317844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754875 Usp16 ubiquitin specific peptidase 16 gene DOID:630 genetic disease ISO RGD:1316236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754892 Cilk1 ciliogenesis associated kinase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:27466187 8754892 Cilk1 ciliogenesis associated kinase 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endocrine-cerebro-osteodysplasia syndrome PMID:19185282|PMID:25741868|PMID:25741883|PMID:27069622|PMID:28492532 8754892 Cilk1 ciliogenesis associated kinase 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome susceptibility ISO RGD:1345110 D RGD:7240710 20240320 OMIM 8754892 Cilk1 ciliogenesis associated kinase 1 gene DOID:0111325 juvenile myoclonic epilepsy 10 susceptibility ISO RGD:1345110 D RGD:7240710 20240320 OMIM 8754892 Cilk1 ciliogenesis associated kinase 1 gene DOID:12270 coloboma ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 8754892 Cilk1 ciliogenesis associated kinase 1 gene DOID:1826 epilepsy ISO RGD:1345110 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8754892 Cilk1 ciliogenesis associated kinase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532|PMID:29539279 8754892 Cilk1 ciliogenesis associated kinase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345110 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 PMID:25741868|PMID:28492532|PMID:29539279|PMID:32178256 8754892 Cilk1 ciliogenesis associated kinase 1 gene DOID:630 genetic disease ISO RGD:1345110 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8754916 Zmym4 zinc finger MYM-type containing 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8754916 Zmym4 zinc finger MYM-type containing 4 gene DOID:630 genetic disease ISO RGD:1319940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754963 Ptprcap protein tyrosine phosphatase receptor type C associated protein gene DOID:1059 intellectual disability ISO RGD:1349193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8754963 Ptprcap protein tyrosine phosphatase receptor type C associated protein gene DOID:630 genetic disease ISO RGD:1349193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754963 Ptprcap protein tyrosine phosphatase receptor type C associated protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1349193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8754963 Ptprcap protein tyrosine phosphatase receptor type C associated protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1349193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8754969 Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1602641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8754969 Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602641 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8754969 Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1602641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8754969 Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:630 genetic disease ISO RGD:1602641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754969 Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8754969 Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602641 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8754987 Golt1b golgi transport 1B gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1349948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 8754987 Golt1b golgi transport 1B gene DOID:630 genetic disease ISO RGD:1349948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8754998 Med9 mediator complex subunit 9 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1349775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8754998 Med9 mediator complex subunit 9 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1349775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8754998 Med9 mediator complex subunit 9 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1349775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8754998 Med9 mediator complex subunit 9 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349775 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8754998 Med9 mediator complex subunit 9 gene DOID:12849 autistic disorder ISO RGD:1349775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8754998 Med9 mediator complex subunit 9 gene DOID:630 genetic disease ISO RGD:1349775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755004 Mvk mevalonate kinase gene DOID:0050452 mevalonic aciduria ISO RGD:732031 D RGD:7240710 20180130 OMIM 8755004 Mvk mevalonate kinase gene DOID:0050452 mevalonic aciduria ISO RGD:732031 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Mevalonic aciduria | ClinVar Annotator: match by term: Periodic fever Dutch type PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313768|PMID:11313769|PMID:12387810|PMID:12444096|PMID:12563048|PMID:12634869|PMID:13130485|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15457465|PMID:15536479|PMID:15804303|PMID:16197847|PMID:16199547|PMID:16234278|PMID:16255052|PMID:16435210|PMID:16707534|PMID:16835861|PMID:17105862|PMID:17171314|PMID:17576681|PMID:18414213|PMID:18839211|PMID:18941711|PMID:19011501|PMID:19786432|PMID:19877056|PMID:20194276|PMID:21225694|PMID:21228398|PMID:21399979|PMID:21425920|PMID:21478439|PMID:21548022|PMID:21708801|PMID:22038276|PMID:22246419|PMID:22271696|PMID:22566169|PMID:22983302|PMID:23006543|PMID:23146290|PMID:23692791|PMID:23707710|PMID:23834120|PMID:23979089|PMID:23998246|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24531851|PMID:24561416|PMID:24656624|PMID:25502423|PMID:25677409|PMID:25708585|PMID:25721923|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26202976|PMID:26299986|PMID:26386126|PMID:26409462|PMID:26420133|PMID:26633545|PMID:26935981|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27142780|PMID:27213830|PMID:27612399|PMID:28095071|PMID:28359055|PMID:28492532|PMID:28501347|PMID:28638818|PMID:28814775|PMID:29047407|PMID:29290516|PMID:29599418|PMID:30148429|PMID:30597534|PMID:31096039|PMID:31278138|PMID:31325964|PMID:31430439|PMID:31474985|PMID:32060250|PMID:32441320|PMID:32822427|PMID:32888943|PMID:33168400|PMID:33917151|PMID:34145613|PMID:34525209|PMID:34751146|PMID:34809655|PMID:35387795|PMID:35525811|PMID:8386351|PMID:9334262|PMID:9536098 8755004 Mvk mevalonate kinase gene DOID:0050486 exanthem ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369261 8755004 Mvk mevalonate kinase gene DOID:0060743 methylmalonic acidemia cblB type ISO RGD:732031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type PMID:15781192|PMID:16199547|PMID:16410054|PMID:20556797|PMID:23707710|PMID:24033266|PMID:25741868|PMID:27591164|PMID:28492532|PMID:30022420|PMID:34796408 8755004 Mvk mevalonate kinase gene DOID:0110936 nemaline myopathy 5A ISO RGD:732031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type PMID:16835861|PMID:22246419|PMID:23006543|PMID:24411001|PMID:25741868|PMID:28492532 8755004 Mvk mevalonate kinase gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:732031 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic PMID:25741868 8755004 Mvk mevalonate kinase gene DOID:14749 methylmalonic acidemia ISO RGD:732031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:24033266|PMID:25741868|PMID:28492532 8755004 Mvk mevalonate kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:732031 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:1377680|PMID:15536479|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18414213|PMID:19011501|PMID:21228398|PMID:21425920|PMID:22038276|PMID:22246419|PMID:23006543|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24561416|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26299986|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:32822427|PMID:33917151|PMID:35387795 8755004 Mvk mevalonate kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:732031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15536479|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18414213|PMID:18839211|PMID:19011501|PMID:20194276|PMID:21228398|PMID:21425920|PMID:22038276|PMID:22246419|PMID:23006543|PMID:23692791|PMID:23834120|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24561416|PMID:24656624|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26299986|PMID:26409462|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:28638818|PMID:29047407|PMID:29290516|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33917151|PMID:34145613|PMID:35387795 8755004 Mvk mevalonate kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:732031 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313769|PMID:12444096|PMID:12634869|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15536479|PMID:16234278|PMID:16255052|PMID:16835861|PMID:17105862|PMID:18414213|PMID:18839211|PMID:19011501|PMID:20194276|PMID:21228398|PMID:21425920|PMID:21630610|PMID:22038276|PMID:22246419|PMID:23006543|PMID:23692791|PMID:23834120|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24561416|PMID:24656624|PMID:25677409|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26299986|PMID:26409462|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:27612399|PMID:28359055|PMID:28492532|PMID:28638818|PMID:29047407|PMID:29290516|PMID:30597534|PMID:31474985|PMID:32060250|PMID:32199921|PMID:32822427|PMID:33917151|PMID:34145613|PMID:34525209|PMID:34809655|PMID:35387795 8755004 Mvk mevalonate kinase gene DOID:3146 lipid metabolism disorder ISO RGD:732031 D RGD:9068941 20200609 RGD mevalonic aciduria, OMIM:610377, DNA:point mutation:exon:N301T PMID:1377680|REF_RGD_ID:1600528 8755004 Mvk mevalonate kinase gene DOID:630 genetic disease ISO RGD:732031 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11313769|PMID:12444096|PMID:12634869|PMID:15149516|PMID:15536479|PMID:16234278|PMID:17105862|PMID:18839211|PMID:19011501|PMID:21228398|PMID:21425920|PMID:22038276|PMID:23692791|PMID:23979089|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24470648|PMID:24561416|PMID:25708585|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26409462|PMID:26633545|PMID:26977311|PMID:26986117|PMID:27142780|PMID:27213830|PMID:28359055|PMID:28492532|PMID:28814775|PMID:29290516|PMID:31278138|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33917151|PMID:34145613|PMID:34525209|PMID:34809655|PMID:35387795 8755004 Mvk mevalonate kinase gene DOID:684 hepatocellular carcinoma ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 8755004 Mvk mevalonate kinase gene DOID:8501 fundus dystrophy ISO RGD:732031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15457465 8755004 Mvk mevalonate kinase gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:732031 D RGD:7240710 20180130 OMIM 8755004 Mvk mevalonate kinase gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:732031 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 PMID:10369261|PMID:10369262|PMID:10401001|PMID:10417275|PMID:10896296|PMID:11111075|PMID:11313768|PMID:11313769|PMID:12387810|PMID:12444096|PMID:12563048|PMID:12634869|PMID:13130485|PMID:1377680|PMID:15149516|PMID:15188372|PMID:15536479|PMID:15804303|PMID:16197847|PMID:16199547|PMID:16234278|PMID:16255052|PMID:16435210|PMID:16707534|PMID:16835861|PMID:17105862|PMID:17171314|PMID:17576681|PMID:18414213|PMID:18839211|PMID:18941711|PMID:19011501|PMID:19786432|PMID:19877056|PMID:20194276|PMID:21225694|PMID:21228398|PMID:21399979|PMID:21425920|PMID:21478439|PMID:21548022|PMID:21708801|PMID:22038276|PMID:22246419|PMID:22566169|PMID:22983302|PMID:23006543|PMID:23146290|PMID:23692791|PMID:23834120|PMID:23979089|PMID:23998246|PMID:24033266|PMID:24084495|PMID:24088041|PMID:24177804|PMID:24233262|PMID:24360083|PMID:24411001|PMID:24470648|PMID:24531851|PMID:24561416|PMID:24656624|PMID:24781643|PMID:24794831|PMID:25502423|PMID:25677409|PMID:25708585|PMID:25721923|PMID:25741868|PMID:25866490|PMID:26116953|PMID:26202976|PMID:26299986|PMID:26386126|PMID:26409462|PMID:26633545|PMID:26935981|PMID:26977311|PMID:26986117|PMID:26990548|PMID:27012807|PMID:27142780|PMID:27213830|PMID:28095071|PMID:28359055|PMID:28492532|PMID:28501347|PMID:28638818|PMID:28814775|PMID:29047407|PMID:29290516|PMID:29599418|PMID:31096039|PMID:31278138|PMID:31430439|PMID:31474985|PMID:32060250|PMID:32822427|PMID:33168400|PMID:33917151|PMID:34145613|PMID:34525209|PMID:34809655|PMID:35387795|PMID:35525811|PMID:8386351|PMID:9334262|PMID:9536098 8755004 Mvk mevalonate kinase gene DOID:9000972 Fever ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369261 8755004 Mvk mevalonate kinase gene DOID:9005372 Inflammation ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24073415 8755004 Mvk mevalonate kinase gene DOID:9006065 Arthralgia ISO RGD:732031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369261 8755022 Arhgap10 Rho GTPase activating protein 10 gene DOID:0060224 atrial fibrillation ISO RGD:1322908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8755022 Arhgap10 Rho GTPase activating protein 10 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1322908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 8755022 Arhgap10 Rho GTPase activating protein 10 gene DOID:630 genetic disease ISO RGD:1322908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755022 Arhgap10 Rho GTPase activating protein 10 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1322908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 8755049 Lcn6 lipocalin 6 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8755049 Lcn6 lipocalin 6 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1349815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8755049 Lcn6 lipocalin 6 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1349815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8755049 Lcn6 lipocalin 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8755049 Lcn6 lipocalin 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8755049 Lcn6 lipocalin 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8755049 Lcn6 lipocalin 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8755049 Lcn6 lipocalin 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8755049 Lcn6 lipocalin 6 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349815 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8755049 Lcn6 lipocalin 6 gene DOID:3652 Leigh disease ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8755049 Lcn6 lipocalin 6 gene DOID:630 genetic disease ISO RGD:1349815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755049 Lcn6 lipocalin 6 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1349815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8755077 Rpap3 RNA polymerase II associated protein 3 gene DOID:630 genetic disease ISO RGD:1603005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1350546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1350546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350546 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350546 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:0081097 Rafiq syndrome ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350546 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:3652 Leigh disease ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:4990 essential tremor ISO RGD:1350546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:630 genetic disease ISO RGD:1350546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755096 Ccdc183 coiled-coil domain containing 183 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8755113 Knl1 kinetochore scaffold 1 gene DOID:0070291 primary autosomal recessive microcephaly 4 ISO RGD:1603976 D RGD:7240710 20180130 OMIM 8755113 Knl1 kinetochore scaffold 1 gene DOID:0070291 primary autosomal recessive microcephaly 4 ISO RGD:1603976 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive PMID:10521316|PMID:18414213|PMID:22983954|PMID:25326637|PMID:25741868|PMID:26626498|PMID:27149178|PMID:28454995|PMID:28492532 8755113 Knl1 kinetochore scaffold 1 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1603976 D RGD:9068941 20200609 RGD DNA:mutation:cds: c.6125 G>A,p. M2041I(human) PMID:22983954|REF_RGD_ID:9685043 8755113 Knl1 kinetochore scaffold 1 gene DOID:0080600 COVID-19 ISO RGD:1603976 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8755113 Knl1 kinetochore scaffold 1 gene DOID:10907 microcephaly ISO RGD:1603976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:18414213|PMID:25741868|PMID:28492532 8755113 Knl1 kinetochore scaffold 1 gene DOID:1115 sarcoma treatment ISO RGD:1603976 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 8755113 Knl1 kinetochore scaffold 1 gene DOID:2717 Bloom syndrome ISO RGD:1603976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8755113 Knl1 kinetochore scaffold 1 gene DOID:630 genetic disease ISO RGD:1603976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28454995|PMID:28492532 8755113 Knl1 kinetochore scaffold 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1603976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8755113 Knl1 kinetochore scaffold 1 gene DOID:9256 colorectal cancer ISO RGD:1603976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8755165 Lrrc2 leucine rich repeat containing 2 gene DOID:630 genetic disease ISO RGD:1323318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755165 Lrrc2 leucine rich repeat containing 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8755182 Pex13 peroxisomal biogenesis factor 13 gene DOID:0050444 infantile Refsum disease ISO RGD:1321726 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:10332040|PMID:21031596|PMID:25741868|PMID:28492532|PMID:33190326|PMID:35854306 8755182 Pex13 peroxisomal biogenesis factor 13 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1321726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10332040|PMID:10441568|PMID:19449432 8755182 Pex13 peroxisomal biogenesis factor 13 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1321726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 8755182 Pex13 peroxisomal biogenesis factor 13 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1321726 D RGD:7240710 20180130 OMIM 8755182 Pex13 peroxisomal biogenesis factor 13 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1321726 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:10332040|PMID:10441568|PMID:16006427|PMID:16199547|PMID:17041890|PMID:17576681|PMID:19449432|PMID:21031596|PMID:23716570|PMID:25741868|PMID:27827795|PMID:28492532|PMID:33190326|PMID:34055681|PMID:35854306|PMID:9480815|PMID:9536098 8755182 Pex13 peroxisomal biogenesis factor 13 gene DOID:10588 adrenoleukodystrophy ISO RGD:1321726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10441568 8755182 Pex13 peroxisomal biogenesis factor 13 gene DOID:630 genetic disease ISO RGD:1321726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8755182 Pex13 peroxisomal biogenesis factor 13 gene DOID:9005083 Peroxisome Biogenesis Disorder 11B ISO RGD:1321726 D RGD:7240710 20180130 OMIM 8755182 Pex13 peroxisomal biogenesis factor 13 gene DOID:9005083 Peroxisome Biogenesis Disorder 11B ISO RGD:1321726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B PMID:10332040|PMID:10441568|PMID:16006427|PMID:17041890|PMID:21031596|PMID:25741868|PMID:27827795|PMID:28492532|PMID:33190326|PMID:35854306|PMID:9480815 8755182 Pex13 peroxisomal biogenesis factor 13 gene DOID:905 Zellweger syndrome ISO RGD:1321726 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:10332040|PMID:21031596|PMID:25741868|PMID:28492532|PMID:33190326|PMID:35854306 8755190 Hoxc12 homeobox C12 gene DOID:630 genetic disease ISO RGD:1321500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755190 Hoxc12 homeobox C12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8755196 Phf21b PHD finger protein 21B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1344183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8755196 Phf21b PHD finger protein 21B gene DOID:1059 intellectual disability ISO RGD:1344183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8755196 Phf21b PHD finger protein 21B gene DOID:630 genetic disease ISO RGD:1344183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755219 Col5a3 collagen type V alpha 3 chain gene DOID:10126 keratoconus ISO RGD:736080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 8755219 Col5a3 collagen type V alpha 3 chain gene DOID:12849 autistic disorder ISO RGD:736080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8755219 Col5a3 collagen type V alpha 3 chain gene DOID:630 genetic disease ISO RGD:736080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755219 Col5a3 collagen type V alpha 3 chain gene DOID:9002304 Prostatic Neoplasms ISO RGD:736080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8755299 Gli1 GLI family zinc finger 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625222 8755299 Gli1 GLI family zinc finger 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:621673 D RGD:9068941 20211105 RGD PMID:30537251|REF_RGD_ID:150520178 8755299 Gli1 GLI family zinc finger 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867347 8755299 Gli1 GLI family zinc finger 1 gene DOID:0080016 spina bifida ISO RGD:1344225 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:26446020|REF_RGD_ID:12801432 8755299 Gli1 GLI family zinc finger 1 gene DOID:0080600 COVID-19 ISO RGD:1344225 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8755299 Gli1 GLI family zinc finger 1 gene DOID:10283 prostate cancer ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8755299 Gli1 GLI family zinc finger 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179202 8755299 Gli1 GLI family zinc finger 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 8755299 Gli1 GLI family zinc finger 1 gene DOID:2377 multiple sclerosis ISO RGD:1344225 D RGD:9068941 20200609 RGD PMID:18991353|REF_RGD_ID:12801440 8755299 Gli1 GLI family zinc finger 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1344225 D RGD:9068941 20200609 RGD PMID:15308259|REF_RGD_ID:12801443 8755299 Gli1 GLI family zinc finger 1 gene DOID:3121 gallbladder cancer disease_progression ISO RGD:1344225 D RGD:9068941 20220210 RGD DNA:SNP::rs2228226(human) PMID:26715268|REF_RGD_ID:151356500 8755299 Gli1 GLI family zinc finger 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8755299 Gli1 GLI family zinc finger 1 gene DOID:5593 gastric papillary adenocarcinoma ISO RGD:1344225 D RGD:9068941 20210813 RGD protein:increased expression:stomach PMID:17259107|REF_RGD_ID:150340552 8755299 Gli1 GLI family zinc finger 1 gene DOID:574 peripheral nervous system disease ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 8755299 Gli1 GLI family zinc finger 1 gene DOID:630 genetic disease ISO RGD:1344225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755299 Gli1 GLI family zinc finger 1 gene DOID:6595 gastric tubular adenocarcinoma ISO RGD:1344225 D RGD:9068941 20210813 RGD protein:increased expression:stomach PMID:17259107|REF_RGD_ID:150340552 8755299 Gli1 GLI family zinc finger 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 8755299 Gli1 GLI family zinc finger 1 gene DOID:6846 familial melanoma ISO RGD:1344225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8755299 Gli1 GLI family zinc finger 1 gene DOID:9000392 Fluoride Poisoning ISO RGD:621673 D RGD:9068941 20200609 RGD PMID:25623978|REF_RGD_ID:12879410 8755299 Gli1 GLI family zinc finger 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621673 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:23933201|REF_RGD_ID:12859044 8755299 Gli1 GLI family zinc finger 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:621673 D RGD:9068941 20221201 RGD PMID:21063852|REF_RGD_ID:12859045 8755299 Gli1 GLI family zinc finger 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621673 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 8755299 Gli1 GLI family zinc finger 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1550011 D RGD:9068941 20200609 RGD PMID:18991353|REF_RGD_ID:12801440 8755299 Gli1 GLI family zinc finger 1 gene DOID:9004978 Preaxial Polydactyly I ISO RGD:1344225 D RGD:7240710 20190529 OMIM 8755299 Gli1 GLI family zinc finger 1 gene DOID:9004978 Preaxial Polydactyly I ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FROMONT ANOMALY | ClinVar Annotator: match by term: Polydactyly, preaxial I PMID:25741868|PMID:30620395 8755299 Gli1 GLI family zinc finger 1 gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:621673 D RGD:9068941 20200609 RGD PMID:24782623|REF_RGD_ID:12879405 8755299 Gli1 GLI family zinc finger 1 gene DOID:9008857 Postaxial Polydactyly, Type A8 ISO RGD:1344225 D RGD:7240710 20190315 OMIM 8755299 Gli1 GLI family zinc finger 1 gene DOID:9008857 Postaxial Polydactyly, Type A8 ISO RGD:1344225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A8 PMID:25741868|PMID:28973407 8755299 Gli1 GLI family zinc finger 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8755299 Gli1 GLI family zinc finger 1 gene DOID:9256 colorectal cancer ISO RGD:1344225 D RGD:9068941 20211105 RGD PMID:22901214|REF_RGD_ID:150520174 8755299 Gli1 GLI family zinc finger 1 gene DOID:9282 ocular hypertension ISO RGD:621673 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retinal ganglion cell PMID:20071678|REF_RGD_ID:2324982 8755326 Hspa12b heat shock protein family A (Hsp70) member 12B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1323758 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8755326 Hspa12b heat shock protein family A (Hsp70) member 12B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1323758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8755326 Hspa12b heat shock protein family A (Hsp70) member 12B gene DOID:630 genetic disease ISO RGD:1323758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755326 Hspa12b heat shock protein family A (Hsp70) member 12B gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1323758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8755348 IGF1R insulin like growth factor 1 receptor gene DOID:12217 Lewy body dementia ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA:altered expression:brain: PMID:19276553|REF_RGD_ID:5129515 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased activity:cerebellum (rat) PMID:16909201|REF_RGD_ID:12904886 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:0050700 cardiomyopathy ISO RGD:2869 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:myocardium PMID:17686258|REF_RGD_ID:2311503 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:0050782 Zollinger-Ellison syndrome ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA and protein: increased expression::poor prognosis for high expression PMID:15867218|REF_RGD_ID:7242847 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:0060224 atrial fibrillation ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:0070004 myeloid neoplasm ISO RGD:68997 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35568132 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:2869 D RGD:9068941 20200609 RGD associated with Fetal Growth Retardation;mRNA:increased expression:liver (rat) PMID:24275070|REF_RGD_ID:12904726 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10126 keratoconus ISO RGD:68997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10283 prostate cancer disease_progression ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:28972962|REF_RGD_ID:13504752 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10286 prostate carcinoma ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:18079205|REF_RGD_ID:13504770 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:1059 intellectual disability ISO RGD:68997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:19487308|REF_RGD_ID:10045878 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:10766 D RGD:9068941 20200609 RGD DNA: haploinsufficiency:: full knockout dies at birth PMID:20409077|REF_RGD_ID:5686420 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:10766 D RGD:9068941 20200609 RGD protein:increased expression: cerebral cortex: PMID:18479783|REF_RGD_ID:10045894 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:16274856|REF_RGD_ID:10045879 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease severity ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:16274856|REF_RGD_ID:10045879 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease severity ISO RGD:68997 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex: PMID:18479783|REF_RGD_ID:10045894 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:23562514|REF_RGD_ID:12904921 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10763 hypertension ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:aorta: PMID:21854769|REF_RGD_ID:10046007 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:endothelial cell: PMID:12714661|REF_RGD_ID:10045893 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:11044 gastroschisis ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:liver, intestine (rat) PMID:23381816|REF_RGD_ID:12904922 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:11132 prostatic hypertrophy ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA: increased expression: prostate PMID:9215294|REF_RGD_ID:7242915 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:11162 respiratory failure ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:11383 cryptorchidism ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:testis (rat) PMID:7473418|REF_RGD_ID:12904727 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:11476 osteoporosis ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:18079194|REF_RGD_ID:10045888 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:68997 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;DNA:SNP:3'UTR:rs3743251(human) PMID:24758241|REF_RGD_ID:14985227 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:11714 gestational diabetes ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:22241286|REF_RGD_ID:10046048 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:68997 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:decreased expression:placenta PMID:16750336|REF_RGD_ID:2311505 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:12217 Lewy body dementia ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:12361 Graves' disease ISO RGD:68997 D RGD:9068941 20200609 RGD protein: increased expression: blood: T cells and B cells PMID:18832736|REF_RGD_ID:5686433 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:12858 Huntington's disease ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:25140802|REF_RGD_ID:10045870 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:1307 dementia ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:16983186|REF_RGD_ID:10045873 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:14183 alcoholic neuropathy ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:23016131|REF_RGD_ID:10402569 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:14330 Parkinson's disease ISO RGD:2869 D RGD:9068941 20200609 RGD protein: altered activity PMID:19703168|REF_RGD_ID:5686429 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:14330 Parkinson's disease ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:14330 Parkinson's disease ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA:altered expression:brain: PMID:19276553|REF_RGD_ID:5129515 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:1612 breast cancer ISO RGD:68997 D RGD:9068941 20200609 RGD protein: increased expression PMID:21047775|REF_RGD_ID:7242794 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:1793 pancreatic cancer ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:14559833|PMID:19732452|PMID:19885860|REF_RGD_ID:2317640|REF_RGD_ID:2317642|REF_RGD_ID:2317651 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:2154 nephroblastoma ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:22529373|REF_RGD_ID:7242789 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:2154 nephroblastoma ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (human) PMID:8390684|REF_RGD_ID:12904709 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:2154 nephroblastoma treatment ISO RGD:68997 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:8390684|REF_RGD_ID:12904709 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:25442907|REF_RGD_ID:13504768 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:8692980|REF_RGD_ID:13504771 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:25862373|PMID:26452103|REF_RGD_ID:13504753|REF_RGD_ID:13504767 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:68997 D RGD:9068941 20200609 RGD DNA: snp::rs2229765 PMID:21047277|REF_RGD_ID:7242795 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:3021 acute kidney failure ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA: decreased expression: kidney: both cortex and medulla PMID:9767523|REF_RGD_ID:7242908 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:3070 high grade glioma ISO RGD:68997 D RGD:9068941 20200609 RGD DNA: SNP: : rs2272037 or rs2016347 PMID:18562769|REF_RGD_ID:5686434 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord (rat) PMID:18683239|REF_RGD_ID:12904708 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:68997 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:14506643|PMID:14627343|REF_RGD_ID:2317649|REF_RGD_ID:2317652 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:3602 toxic encephalopathy ISO RGD:68997 D RGD:9068941 20200609 RGD DNA: snp: intron: rs1879612: bortezomib induced PMID:20864405|REF_RGD_ID:5686413 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:3948 adrenocortical carcinoma ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407999 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:4248 coronary stenosis ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA:increased expression:myocyte: PMID:8102103|REF_RGD_ID:10046053 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:4450 renal cell carcinoma ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:17952403|REF_RGD_ID:7242846 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:4467 clear cell renal cell carcinoma ISO RGD:68997 D RGD:9068941 20200609 RGD xenograph of human clear cell renal cancer cells in mouse PMID:19509240|REF_RGD_ID:7242921 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:5082 liver cirrhosis susceptibility ISO RGD:68997 D RGD:9068941 20200609 RGD associated with Hepatis B virus;DNA:SNP:3'UTR:rs3743251(human) PMID:24758241|REF_RGD_ID:14985227 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:5577 gastrinoma ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA and protein: increased expression::poor prognosis for high expression PMID:15867218|REF_RGD_ID:7242847 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:574 peripheral nervous system disease ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:5844 myocardial infarction ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:myocyte: PMID:8682060|REF_RGD_ID:10046050 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:630 genetic disease ISO RGD:68997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14657428|PMID:19240156|PMID:21204214|PMID:23073384|PMID:25741868|PMID:28492532|PMID:30848790|PMID:31586944 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17441810|PMID:23958494 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:68997 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: : PMID:24758241|REF_RGD_ID:14985227 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:769 neuroblastoma ISO RGD:68997 D RGD:9068941 20200609 RGD protein: decreased tyrosine phosphorylation: : Y1131 PMID:17121898|REF_RGD_ID:7242922 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:7998 hyperthyroidism ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:17447016|REF_RGD_ID:2311524 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:8398 osteoarthritis severity ISO RGD:68997 D RGD:9068941 20200609 RGD mRNA:increased expression:articular cartilage of joint: PMID:8609369|REF_RGD_ID:10045889 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:850 lung disease ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:8577 ulcerative colitis ISO RGD:68997 D RGD:9068941 20200609 RGD protein:altered expression:colon PMID:18938767|REF_RGD_ID:5686432 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:8725 vascular dementia ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:16983186|REF_RGD_ID:10045873 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:12781065|REF_RGD_ID:10046008 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9000121 Malocclusion ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:22758598|REF_RGD_ID:10045831 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9000145 IGF1R-RELATED DISORDER ISO RGD:68997 D RGD:7240710 20180130 OMIM 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9000145 IGF1R-RELATED DISORDER ISO RGD:68997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IGF-I RESISTANCE | ClinVar Annotator: match by term: IGF1R-Related Disorder | ClinVar Annotator: match by term: IGF1R-related condition | ClinVar Annotator: match by term: Insulin-like growth factor 1 resistance to | ClinVar Annotator: match by term: Somatomedin end-organ insensitivity to | ClinVar Annotator: match by term: Somatomedin-c resistance to PMID:14657428|PMID:15799978|PMID:15928254|PMID:16569742|PMID:16894147|PMID:17264177|PMID:18316725|PMID:18989367|PMID:20416304|PMID:20455999|PMID:20625407|PMID:21204214|PMID:22130793|PMID:22309212|PMID:22903739|PMID:23045302|PMID:23073384|PMID:23147026|PMID:23164529|PMID:23431249|PMID:23549953|PMID:23771920|PMID:25040157|PMID:25231023|PMID:25628647|PMID:25741868|PMID:25743390|PMID:26252249|PMID:28492532|PMID:29168297|PMID:29789409|PMID:30848790|PMID:31586944 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:68997 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:16575403|REF_RGD_ID:2317645 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:19032681|REF_RGD_ID:10045869 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:12800242|REF_RGD_ID:10045984 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:2869 D RGD:9068941 20230223 RGD PMID:30240970|REF_RGD_ID:156430315 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:19008912|REF_RGD_ID:10046022 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:liver, lung (rat) PMID:12536576|REF_RGD_ID:12904724 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14657428 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:68997 D RGD:9068941 20200609 RGD DNA:point mutation:exon:p.R108Q, p.K115N (human) PMID:14657428|REF_RGD_ID:1624299 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9002231 Fetal Growth Retardation onset ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:placenta labyrinth (rat) PMID:24239160|REF_RGD_ID:12904720 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:2869 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21567076|REF_RGD_ID:6907380 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:8948288|REF_RGD_ID:10045874 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9002644 Premature Aging ISO RGD:10766 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19500727|REF_RGD_ID:10045876 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9002916 Hyperphagia ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:17567960|REF_RGD_ID:10046043 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9003936 Cardiomegaly ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:18801929|REF_RGD_ID:2311509 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9004464 Skin Neoplasms ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10365914 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10766 D RGD:9068941 20200609 RGD protein:decreased expression:oviduct PMID:18676006|REF_RGD_ID:2311502 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:heart PMID:20555424|REF_RGD_ID:4142788 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2869 D RGD:9068941 20200609 RGD PMID:10090325|REF_RGD_ID:12904918 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased phosphorylation:carotid artery: PMID:17606126|REF_RGD_ID:10046006 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA: increased expression: kidney: 3 and 5 days post ischemia PMID:10990448|REF_RGD_ID:7242905 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9006257 Growth Disorders ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14657428 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9007096 Stroke ISO RGD:68997 D RGD:9068941 20200609 RGD DNA: SNP: : rs2229765 PMID:18477064|REF_RGD_ID:5686435 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23748240 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9007661 Dwarfism ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9007715 Endometrial Neoplasms ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21442237 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9007730 Burns ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle: PMID:25186839|REF_RGD_ID:10046020 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2869 D RGD:9068941 20200609 RGD protein: altered activity: eye PMID:19484445|REF_RGD_ID:5686431 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2869 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:23648097|REF_RGD_ID:10046025 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:68997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9008939 Breast Neoplasms ISO RGD:68997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21057462 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9351 diabetes mellitus ISO RGD:10766 D RGD:9068941 20200609 RGD PMID:16642022|REF_RGD_ID:2311506 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9351 diabetes mellitus ISO RGD:68997 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium, blood vessel endothelial cell PMID:18986336|REF_RGD_ID:2306690 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:2869 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:17476475|REF_RGD_ID:2311504 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9620 vesicoureteral reflux ISO RGD:68997 D RGD:9068941 20200609 RGD PMID:14760498|REF_RGD_ID:7242902 8755348 Igf1r insulin like growth factor 1 receptor gene DOID:9970 obesity ISO RGD:2869 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:11009458|REF_RGD_ID:12904882 8755395 Pdcl2 phosducin like 2 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1344096 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 8755395 Pdcl2 phosducin like 2 gene DOID:630 genetic disease ISO RGD:1344096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21966456 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:0060001 withdrawal disorder treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:10708732|REF_RGD_ID:10043351 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:0060500 drug allergy ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20587336 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:0060903 thrombosis ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17242161 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:1059 intellectual disability ISO RGD:731378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:10976 membranous glomerulonephritis ISO RGD:3435 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:14636300|REF_RGD_ID:10043359 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:11656 cicatricial pemphigoid ISO RGD:731378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21966456 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:127 leiomyoma ISO RGD:731378 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine myometrium (human) PMID:17407572|REF_RGD_ID:10043352 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:1591 renovascular hypertension ISO RGD:3435 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:16788145|REF_RGD_ID:1642130 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:219 colon cancer ISO RGD:3435 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (rat) PMID:15247185|REF_RGD_ID:9850265 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:2841 asthma treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:23221044|REF_RGD_ID:10043366 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:630 genetic disease ISO RGD:731378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:9000197 Edema treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:8138964|REF_RGD_ID:10043358 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:9000972 Fever ISO RGD:731379 D RGD:9068941 20200609 RGD PMID:9751056|REF_RGD_ID:737727 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:9000998 Brain Injuries ISO RGD:3435 D RGD:9068941 20200609 RGD protein:increased expression:striatum, microglia (rat) PMID:15234107|REF_RGD_ID:9850280 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:9002211 Hyperalgesia ISO RGD:3435 D RGD:9068941 20200609 RGD protein:increased expression:lumbar spinal cord dorsal horn (rat) PMID:17413918|REF_RGD_ID:5688169 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3435 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta (rat) PMID:15990166|REF_RGD_ID:10043194 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:3435 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:12821538|REF_RGD_ID:9850261 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:9002928 Colonic Neoplasms severity ISO RGD:731379 D RGD:9068941 20200609 RGD PMID:15247185|REF_RGD_ID:9850265 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:9006937 NSAID-Enteropathy treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:11991626|REF_RGD_ID:10003093 8755411 Ptger3 prostaglandin E receptor 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3435 D RGD:9068941 20200609 RGD PMID:10193764|REF_RGD_ID:10043342 8755422 Asb10 ankyrin repeat and SOCS box containing 10 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1353086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8755422 Asb10 ankyrin repeat and SOCS box containing 10 gene DOID:2843 long QT syndrome ISO RGD:1353086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8755422 Asb10 ankyrin repeat and SOCS box containing 10 gene DOID:630 genetic disease ISO RGD:1353086 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10037570|PMID:28166811|PMID:28492532 8755422 Asb10 ankyrin repeat and SOCS box containing 10 gene DOID:9001412 Glaucoma 1, Open Angle, F ISO RGD:1353086 D RGD:7240710 20180130 OMIM 8755422 Asb10 ankyrin repeat and SOCS box containing 10 gene DOID:9001412 Glaucoma 1, Open Angle, F ISO RGD:1353086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, F PMID:10037570|PMID:22156576|PMID:25741868|PMID:28492532 8755437 Nrbp1 nuclear receptor binding protein 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1354113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8755437 Nrbp1 nuclear receptor binding protein 1 gene DOID:630 genetic disease ISO RGD:1354113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755462 Plk3 polo like kinase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8755462 Plk3 polo like kinase 3 gene DOID:0080600 COVID-19 ISO RGD:1350781 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8755462 Plk3 polo like kinase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8755462 Plk3 polo like kinase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8755462 Plk3 polo like kinase 3 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1350781 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:14970859|REF_RGD_ID:2299941 8755462 Plk3 polo like kinase 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1350781 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15785925|REF_RGD_ID:2299942 8755462 Plk3 polo like kinase 3 gene DOID:630 genetic disease ISO RGD:1350781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755482 Fabp5 fatty acid binding protein 5 gene DOID:10283 prostate cancer ISO RGD:736313 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:16489065|REF_RGD_ID:1578462 8755482 Fabp5 fatty acid binding protein 5 gene DOID:630 genetic disease ISO RGD:736313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755482 Fabp5 fatty acid binding protein 5 gene DOID:684 hepatocellular carcinoma ISO RGD:736313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8755482 Fabp5 fatty acid binding protein 5 gene DOID:8893 psoriasis ISO RGD:736313 D RGD:9068941 20200609 RGD mRNA:increased expression:skin (human) PMID:16283139|REF_RGD_ID:1578463 8755482 Fabp5 fatty acid binding protein 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:736313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8755491 Fgd5 FYVE, RhoGEF and PH domain containing 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1313708 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8755491 Fgd5 FYVE, RhoGEF and PH domain containing 5 gene DOID:630 genetic disease ISO RGD:1313708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755491 Fgd5 FYVE, RhoGEF and PH domain containing 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1313708 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34427968 8755491 Fgd5 FYVE, RhoGEF and PH domain containing 5 gene DOID:9000918 Disease Progression ISO RGD:1313708 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34427968 8755491 Fgd5 FYVE, RhoGEF and PH domain containing 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1313708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1606480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532|PMID:30193310 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:25741868 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606480 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532|PMID:30193310|PMID:34196655 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0050778 Meckel syndrome ISO RGD:1606480 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532|PMID:30193310|PMID:34196655 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1606480 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:25741868|PMID:28492532|PMID:34196655 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1606480 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:25741868|PMID:28492532|PMID:30193310|PMID:34196655 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1606480 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:25741868|PMID:28492532 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606480 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:16682973|PMID:16909394|PMID:20683928|PMID:25741868|PMID:28492532|PMID:29588463|PMID:30193310 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1606480 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:16682973|PMID:16909394|PMID:20683928|PMID:25741868|PMID:28492532|PMID:29588463 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606480 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16682973|PMID:16909394|PMID:17576681|PMID:19764032|PMID:20683928|PMID:21786365|PMID:23954617|PMID:25741868|PMID:27821535|PMID:28492532|PMID:29588463|PMID:30193310|PMID:34196655|PMID:9536098 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1606480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:16682973|PMID:16909394|PMID:20683928|PMID:25741868|PMID:28492532|PMID:29588463 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1606480 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532|PMID:30193310|PMID:34196655 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:1059 intellectual disability ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:12712 nephronophthisis ISO RGD:1606480 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:25741868|PMID:28492532|PMID:34196655 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:12712 nephronophthisis ISO RGD:1606480 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532|PMID:30193310|PMID:34196655 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1606480 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:16682973|PMID:16909394|PMID:25741868|PMID:28492532|PMID:29588463|PMID:34196655 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:630 genetic disease ISO RGD:1606480 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:8501 fundus dystrophy ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1606480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16682973|PMID:16909394|PMID:25741868|PMID:28492532|PMID:29588463 8755516 Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 gene DOID:9008709 Senior-Loken Syndrome 6 ISO RGD:1606480 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:25741868|PMID:28492532 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1350540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:10455016|PMID:10720067|PMID:11549685|PMID:12466376|PMID:14671162|PMID:14715825|PMID:14715826|PMID:14715827|PMID:14747197|PMID:15771555|PMID:1577471|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:17379008|PMID:19636199|PMID:20197673|PMID:21340157|PMID:21340163|PMID:21846181|PMID:21966534|PMID:23291414|PMID:23466679|PMID:24033266|PMID:24498484|PMID:2493025|PMID:25741868|PMID:26543560|PMID:2786493|PMID:28008861|PMID:2843762|PMID:28492532|PMID:29595516|PMID:31636948|PMID:33516834|PMID:33864926|PMID:34524979|PMID:35729303|PMID:35990289|PMID:8027220|PMID:8396144|PMID:8550762|PMID:9326943|PMID:9601054|PMID:9855540|PMID:9892022 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:0060043 sexual health disorder ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15890676 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15706422 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:10211 cholelithiasis ISO RGD:1350540 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; DNA:transition:5' utr:-34T>C rs743572 (human) PMID:16381022|REF_RGD_ID:2317619 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:10283 prostate cancer ISO RGD:1350540 D RGD:9068941 20200609 RGD PMID:18645193|REF_RGD_ID:4846627 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:10824 malignant hypertension ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3142437 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:11054 urinary bladder cancer ISO RGD:1350540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:11446 sciatic neuropathy ISO RGD:2456 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord (rat) PMID:17720801|REF_RGD_ID:4889112 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:11476 osteoporosis ISO RGD:1350540 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:17002564|REF_RGD_ID:1625350 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:11612 polycystic ovary syndrome ISO RGD:1350540 D RGD:9068941 20200609 RGD protein:increased activity:ovary follicle, theca cell (human) PMID:11739466|REF_RGD_ID:4888511 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:12336 male infertility ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15890676 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:13938 amenorrhea ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:1612 breast cancer ISO RGD:1350540 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:10720067|PMID:14747197|PMID:16121340|PMID:17192295|PMID:1740503|PMID:20197673|PMID:22309630|PMID:24140098|PMID:25741868|PMID:26845730|PMID:28492532|PMID:29345162 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1350540 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-34T>C rs743572 (human) PMID:19642097|REF_RGD_ID:2317618 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:1924 hypogonadism ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1350540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:3121 gallbladder cancer susceptibility ISO RGD:1350540 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-34T>C rs743572 (human) PMID:16381022|REF_RGD_ID:2317619 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:5119 ovarian cyst ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:5426 primary ovarian insufficiency ISO RGD:1350540 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:34480478 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:630 genetic disease ISO RGD:1350540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:684 hepatocellular carcinoma ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341023 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:9000172 17,20-Lyase Deficiency, Isolated ISO RGD:1350540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: 17,20-lyase deficiency, isolated | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial PMID:10455016|PMID:10720067|PMID:11422109|PMID:11549685|PMID:11836339|PMID:12466376|PMID:12706306|PMID:14671162|PMID:14715825|PMID:14715826|PMID:14715827|PMID:14747197|PMID:15713706|PMID:15771555|PMID:1577471|PMID:15811924|PMID:15844475|PMID:16121340|PMID:1621662|PMID:16477341|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:1714904|PMID:17192295|PMID:17379008|PMID:1740503|PMID:19508587|PMID:20197673|PMID:21340157|PMID:21340163|PMID:21846181|PMID:21966534|PMID:22087567|PMID:22309630|PMID:22954317|PMID:23291414|PMID:2335573|PMID:23466679|PMID:24033266|PMID:24140098|PMID:24498484|PMID:2493025|PMID:25697092|PMID:25741868|PMID:26543560|PMID:26770544|PMID:26845730|PMID:27426448|PMID:2786493|PMID:27959413|PMID:28008861|PMID:2843762|PMID:28492532|PMID:28870780|PMID:29345162|PMID:29595516|PMID:29858860|PMID:32784047|PMID:33753170|PMID:6976525|PMID:7629254|PMID:8345056|PMID:8550762|PMID:9177409|PMID:9326943|PMID:9435441|PMID:9601054|PMID:9892022 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1350540 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:9000734 Oligomenorrhea ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:9001961 Hyperkalemia ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15538743|PMID:16424004|PMID:16859836|PMID:16998812|PMID:17592021 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:9005968 Neuralgia ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17720801 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:9006683 Congenital Adrenal Hyperplasia, Type 5 ISO RGD:1350540 D RGD:7240710 20180130 OMIM 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:9006683 Congenital Adrenal Hyperplasia, Type 5 ISO RGD:1350540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 PMID:10455016|PMID:10720067|PMID:10877510|PMID:11243732|PMID:11422109|PMID:11549685|PMID:11549876|PMID:12466376|PMID:12706306|PMID:14671162|PMID:14715825|PMID:14715826|PMID:14715827|PMID:14747197|PMID:1515452|PMID:15771555|PMID:1577471|PMID:15844475|PMID:16121340|PMID:16199547|PMID:1621662|PMID:16477341|PMID:16483711|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:1714904|PMID:17192295|PMID:17379008|PMID:1740503|PMID:18422032|PMID:19454579|PMID:19470621|PMID:19508587|PMID:19636199|PMID:19728179|PMID:19793597|PMID:20170344|PMID:20197673|PMID:21340157|PMID:21340163|PMID:21822006|PMID:21846181|PMID:21966534|PMID:22087567|PMID:22266943|PMID:22309630|PMID:22954317|PMID:23291414|PMID:23466679|PMID:24033266|PMID:24140098|PMID:24498484|PMID:24593890|PMID:2493025|PMID:25697092|PMID:25741868|PMID:26467025|PMID:26543560|PMID:26770544|PMID:26845730|PMID:26980296|PMID:27426448|PMID:2786493|PMID:27959413|PMID:28008861|PMID:28130116|PMID:2843762|PMID:28492532|PMID:28870780|PMID:29278670|PMID:29345162|PMID:29595516|PMID:29858860|PMID:30002216|PMID:30229581|PMID:31636948|PMID:32215889|PMID:32784047|PMID:33516834|PMID:33753170|PMID:33864926|PMID:34097983|PMID:34524979|PMID:34829455|PMID:35729303|PMID:35990289|PMID:8027220|PMID:8245018|PMID:8287576|PMID:8345056|PMID:8396144|PMID:8550762|PMID:9326943|PMID:9601054|PMID:9855540|PMID:9888582|PMID:9892022 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:9007456 Female Infertility ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645707 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:9008939 Breast Neoplasms ISO RGD:1350540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:19913079|PMID:34426286 8755528 LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase gene DOID:9406 hypopituitarism ISO RGD:1350540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970278 8755541 Pisd phosphatidylserine decarboxylase gene DOID:630 genetic disease ISO RGD:1352965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8755541 Pisd phosphatidylserine decarboxylase gene DOID:9000377 Liberfarb Syndrome ISO RGD:1352965 D RGD:7240710 20200708 OMIM 8755541 Pisd phosphatidylserine decarboxylase gene DOID:9000377 Liberfarb Syndrome ISO RGD:1352965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Liberfarb syndrome | ClinVar Annotator: match by term: PISD-related mitochondrial disease PMID:25741868|PMID:28492532|PMID:30488656|PMID:30858161|PMID:31263216|PMID:3561949 8755541 Pisd phosphatidylserine decarboxylase gene DOID:9007491 Childhood Schizophrenia ISO RGD:1352965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1551470 D RGD:9068941 20220825 MouseDO 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1551470 D RGD:9068941 20220825 MouseDO OMIM:203300 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:0060831 Griscelli syndrome ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Griscelli syndrome PMID:10835631|PMID:12148598|PMID:16551969|PMID:18350256|PMID:19953648|PMID:23160464|PMID:24033266|PMID:25741868|PMID:26684649|PMID:28492532 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1354398 D RGD:7240710 20180130 OMIM 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1354398 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome PMID:10835631|PMID:12058346|PMID:12148598|PMID:12531900|PMID:12648328|PMID:15163896|PMID:15475639|PMID:16199547|PMID:16278825|PMID:16551969|PMID:17085000|PMID:17576681|PMID:18350256|PMID:18397837|PMID:18403584|PMID:19030707|PMID:19953648|PMID:22475297|PMID:23160464|PMID:24033266|PMID:24678334|PMID:25071262|PMID:25312756|PMID:25500851|PMID:25544030|PMID:25741868|PMID:25801174|PMID:25901543|PMID:26684649|PMID:26880764|PMID:27016801|PMID:27416802|PMID:27781387|PMID:28353193|PMID:28492532|PMID:28585352|PMID:28936583|PMID:29357941|PMID:29522846|PMID:30104219|PMID:30290665|PMID:30697212|PMID:30899265|PMID:30934652|PMID:31233462|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32853466|PMID:32856792|PMID:32860008|PMID:32888943|PMID:32965739|PMID:33225392|PMID:33362801|PMID:34329649|PMID:34573280|PMID:34796988|PMID:8319705|PMID:9536098 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:10835631|PMID:15163896|PMID:23160464|PMID:25741868|PMID:28492532 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:11054 urinary bladder cancer ISO RGD:1354398 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:2223 platelet storage pool deficiency ISO RGD:1551470 D RGD:9068941 20220825 MouseDO OMIM:185050 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:2717 Bloom syndrome ISO RGD:1354398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1354398 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10835631|PMID:15475639|PMID:16199547|PMID:16278825|PMID:18397837|PMID:19030707|PMID:19953648|PMID:23160464|PMID:24678334|PMID:25071262|PMID:25500851|PMID:25544030|PMID:25741868|PMID:25801174|PMID:26880764|PMID:27016801|PMID:27781387|PMID:28353193|PMID:28492532|PMID:29357941|PMID:29522846|PMID:30290665|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32853466|PMID:32856792|PMID:32888943|PMID:32965739|PMID:34329649|PMID:34573280 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:4330 non-Langerhans-cell histiocytosis ISO RGD:1354398 D RGD:9068941 20200609 RGD Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P) PMID:12531900|REF_RGD_ID:1601587 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10835631|PMID:23160464|PMID:25741868|PMID:28492532|PMID:32375849|PMID:34796988 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:9000918 Disease Progression ISO RGD:1354398 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354398 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:9005660 Hypopigmentation ISO RGD:1354398 D RGD:9068941 20200609 RGD Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P) PMID:12531900|REF_RGD_ID:1601587 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:9005835 Congenital Abnormalities ISO RGD:1354398 D RGD:9068941 20200609 RGD Griscelli syndrome type I. OMIM:214450 PMID:12058346|REF_RGD_ID:1600821 8755577 Rab27a RAB27A, member RAS oncogene family gene DOID:9256 colorectal cancer ISO RGD:1354398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8755597 Sgcg sarcoglycan gamma gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1347979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8755597 Sgcg sarcoglycan gamma gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1347979 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:16199547|PMID:18285821|PMID:18414213|PMID:19770540|PMID:21896784|PMID:22095924|PMID:24033266|PMID:25605665|PMID:25741868|PMID:26467025|PMID:27708273|PMID:28492532|PMID:31517061|PMID:32875335|PMID:34281632|PMID:9673983 8755597 Sgcg sarcoglycan gamma gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1347979 D RGD:7240710 20180130 OMIM 8755597 Sgcg sarcoglycan gamma gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1347979 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:10447257|PMID:10714584|PMID:10874299|PMID:10942431|PMID:12040521|PMID:12566530|PMID:12746421|PMID:1303286|PMID:14981741|PMID:15322984|PMID:15479193|PMID:16199547|PMID:16832103|PMID:17576681|PMID:18285821|PMID:18398442|PMID:18414213|PMID:18996010|PMID:19031088|PMID:19167890|PMID:19208398|PMID:19763152|PMID:19770540|PMID:20307669|PMID:20345928|PMID:20623375|PMID:22095924|PMID:22240777|PMID:22406018|PMID:23929688|PMID:24033266|PMID:24180463|PMID:24534832|PMID:24552312|PMID:25605665|PMID:25640679|PMID:25741868|PMID:25802879|PMID:26467025|PMID:27708273|PMID:27759885|PMID:28492532|PMID:28687063|PMID:28889091|PMID:29970176|PMID:30107846|PMID:30564623|PMID:30838351|PMID:31268554|PMID:31517061|PMID:31785789|PMID:32214227|PMID:32875335|PMID:34281632|PMID:7481775|PMID:8923014|PMID:8968757|PMID:9536098|PMID:9658457|PMID:9673983|PMID:9781048 8755597 Sgcg sarcoglycan gamma gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1347979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sarcoglycanopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8755597 Sgcg sarcoglycan gamma gene DOID:12930 dilated cardiomyopathy ISO RGD:1347979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 8755597 Sgcg sarcoglycan gamma gene DOID:5419 schizophrenia ISO RGD:1347979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8755597 Sgcg sarcoglycan gamma gene DOID:607 paraplegia ISO RGD:1347979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:18285821|PMID:18398442|PMID:19031088|PMID:19208398|PMID:19892370|PMID:21745802|PMID:24180463|PMID:28492532 8755597 Sgcg sarcoglycan gamma gene DOID:630 genetic disease ISO RGD:1347979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8755597 Sgcg sarcoglycan gamma gene DOID:8398 osteoarthritis ISO RGD:1347979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 8755597 Sgcg sarcoglycan gamma gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1347979 D RGD:9068941 20200609 RGD DNA:SNP: : rs9552911(human) PMID:28123479|REF_RGD_ID:13605620 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1346223 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:28492532|PMID:29503925 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110723 neuronal ceroid lipofuscinosis 8 ISO RGD:1346223 D RGD:7240710 20180130 OMIM 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110723 neuronal ceroid lipofuscinosis 8 ISO RGD:1346223 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:19201763|PMID:19431184|PMID:19807737|PMID:20301601|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29915382|PMID:29961513|PMID:30397314|PMID:30741402|PMID:30919163|PMID:31069529|PMID:31130284|PMID:31741823|PMID:32348865|PMID:33358637|PMID:36011304|PMID:36912596 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant ISO RGD:1346223 D RGD:7240710 20181017 OMIM 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant ISO RGD:1346223 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:19431184|PMID:19807737|PMID:20301601|PMID:21990111|PMID:23374165|PMID:25326637|PMID:25741868|PMID:26075876|PMID:26467025|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31741823|PMID:32348865|PMID:36011304|PMID:36912596 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:1059 intellectual disability ISO RGD:1346223 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21990111|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:29961513|PMID:31741823 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:30741402|PMID:30919163 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:30741402|PMID:30919163|PMID:31741823 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346223 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19431184|PMID:19807737|PMID:20301601|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25806950|PMID:25976102|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29915382|PMID:29961513|PMID:30397314|PMID:30741402|PMID:30919163|PMID:31069529|PMID:31130284|PMID:31741823|PMID:32348865|PMID:33358637|PMID:36011304|PMID:36912596|PMID:9536098 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:1826 epilepsy ISO RGD:1346223 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:1826 epilepsy ISO RGD:1346223 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31741823 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:1826 epilepsy ISO RGD:1346223 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:26443629|PMID:28492532 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:3529 congenital myopathy 1A ISO RGD:1346223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:21990111|PMID:25741868|PMID:26467025|PMID:28492532 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:630 genetic disease ISO RGD:1346223 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10508524|PMID:10861296|PMID:15024724|PMID:16570191|PMID:19431184|PMID:21990111|PMID:22220808|PMID:23374165|PMID:25741868|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:30919163|PMID:31130284|PMID:31741823|PMID:32348865|PMID:36011304|PMID:36912596 8755619 Cln8 CLN8 transmembrane ER and ERGIC protein gene DOID:9006205 Animal Disease Models ISO RGD:1346223 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:22302580 8755629 Parva parvin alpha gene DOID:1059 intellectual disability ISO RGD:1352322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8755629 Parva parvin alpha gene DOID:303 substance-related disorder ISO RGD:1352322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8755629 Parva parvin alpha gene DOID:630 genetic disease ISO RGD:1352322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:0050685 small cell carcinoma ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:20150622|REF_RGD_ID:5133439 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737208 D RGD:9068941 20220825 MouseDO OMIM:155310 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:0060889 prune belly syndrome ISO RGD:734195 D RGD:7240710 20180130 OMIM 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:0060889 prune belly syndrome ISO RGD:734195 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prune belly syndrome PMID:25741868|PMID:28492532|PMID:31441039 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:11383 cryptorchidism ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22077972 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:1540 parathyroid carcinoma ISO RGD:734195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:2841 asthma ISO RGD:737208 D RGD:9068941 20200609 RGD PMID:18348887|REF_RGD_ID:5133438 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:2841 asthma severity ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:20394512|REF_RGD_ID:5133437 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:19281093|REF_RGD_ID:5133441 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:365 bladder disease ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22077972 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:365 bladder disease ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:17922784|REF_RGD_ID:5133442 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:3770 pulmonary fibrosis ISO RGD:734195 D RGD:9068941 20200609 RGD PMID:18480105|REF_RGD_ID:5133440 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:5082 liver cirrhosis ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197374 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:630 genetic disease ISO RGD:734195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:734195 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:9006095 Ascites ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197374 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197374 8755646 Chrm3 cholinergic receptor muscarinic 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8755676 Tpbgl trophoblast glycoprotein like gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:6770651 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8755676 Tpbgl trophoblast glycoprotein like gene DOID:1059 intellectual disability ISO RGD:6770651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8755676 Tpbgl trophoblast glycoprotein like gene DOID:630 genetic disease ISO RGD:6770651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755692 Kpnb1 karyopherin subunit beta 1 gene DOID:4001 ovarian carcinoma ISO RGD:737037 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 8755692 Kpnb1 karyopherin subunit beta 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8755692 Kpnb1 karyopherin subunit beta 1 gene DOID:630 genetic disease ISO RGD:737037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755734 Bud13 BUD13 homolog gene DOID:1059 intellectual disability ISO RGD:1606207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8755734 Bud13 BUD13 homolog gene DOID:630 genetic disease ISO RGD:1606207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755734 Bud13 BUD13 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8755734 Bud13 BUD13 homolog gene DOID:9007661 Dwarfism ISO RGD:1606207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:731296 D RGD:7240710 20180130 OMIM 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:731296 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:10518289|PMID:10737990|PMID:11018746|PMID:11068166|PMID:11891689|PMID:1301916|PMID:1483694|PMID:1487231|PMID:15386453|PMID:15505382|PMID:1551676|PMID:15571220|PMID:16199547|PMID:16549399|PMID:17027311|PMID:17454734|PMID:17483691|PMID:17576681|PMID:1781350|PMID:18600506|PMID:19016344|PMID:1937471|PMID:20176575|PMID:2071157|PMID:20981450|PMID:22132984|PMID:22157001|PMID:2246854|PMID:22999896|PMID:2323782|PMID:2347587|PMID:23597535|PMID:23975452|PMID:25136576|PMID:2516172|PMID:25481104|PMID:25741868|PMID:27288985|PMID:2738157|PMID:28045594|PMID:28492532|PMID:2896620|PMID:29185864|PMID:2928313|PMID:3198771|PMID:3358423|PMID:3384338|PMID:6087154|PMID:6204922|PMID:6309910|PMID:6706936|PMID:7987318|PMID:8111415|PMID:8125482|PMID:9288634|PMID:9536098|PMID:9799086 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:10907 microcephaly ISO RGD:731296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:15571220|PMID:17027311|PMID:22157001|PMID:2323782|PMID:23975452|PMID:25481104|PMID:25741868|PMID:28492532 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:731296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1919 Lesch-Nyhan syndrome ISO RGD:731296 D RGD:7240710 20180130 OMIM 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1919 Lesch-Nyhan syndrome ISO RGD:731296 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lesch-Nyhan syndrome PMID:10737990|PMID:10767182|PMID:11018746|PMID:11668636|PMID:1301916|PMID:1434518|PMID:15386453|PMID:15505382|PMID:1551676|PMID:15571220|PMID:1618489|PMID:16199547|PMID:1639405|PMID:16549399|PMID:17027311|PMID:17454734|PMID:17483691|PMID:1781350|PMID:1840549|PMID:18779430|PMID:19016344|PMID:1937471|PMID:20176575|PMID:20638392|PMID:2071157|PMID:20981450|PMID:22132984|PMID:22157001|PMID:22999896|PMID:2323782|PMID:2347587|PMID:23975452|PMID:2516172|PMID:25481104|PMID:25741868|PMID:27288985|PMID:2738157|PMID:2760209|PMID:28492532|PMID:28708303|PMID:2910902|PMID:2928313|PMID:31182398|PMID:3198771|PMID:3384338|PMID:3909940|PMID:3944251|PMID:6087154|PMID:6309910|PMID:6853716|PMID:8664901|PMID:9288634 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:1920 hyperuricemia ISO RGD:731296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348497 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:630 genetic disease ISO RGD:731296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11018746|PMID:1301916|PMID:23975452|PMID:24940672|PMID:25420563|PMID:25481104|PMID:25482009|PMID:28492532|PMID:9003484 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:2826 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6327016|REF_RGD_ID:5135035 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9005497 Lesch-Nyhan Syndrome, Neurologic Variant ISO RGD:731296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant PMID:10737990|PMID:1301916|PMID:17454734|PMID:20981450|PMID:22157001|PMID:22999896|PMID:2358296|PMID:25481104|PMID:25741868|PMID:28492532 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2826 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:3043317|REF_RGD_ID:5135485 8755766 Hprt1 hypoxanthine phosphoribosyltransferase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731296 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8755787 Creb3l4 cAMP responsive element binding protein 3 like 4 gene DOID:0070048 GAND syndrome ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 8755787 Creb3l4 cAMP responsive element binding protein 3 like 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8755787 Creb3l4 cAMP responsive element binding protein 3 like 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8755787 Creb3l4 cAMP responsive element binding protein 3 like 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8755787 Creb3l4 cAMP responsive element binding protein 3 like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8755787 Creb3l4 cAMP responsive element binding protein 3 like 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1347233 D RGD:9068941 20200609 RGD PMID:11830526|PMID:17270658|REF_RGD_ID:13504714|REF_RGD_ID:13504715 8755787 Creb3l4 cAMP responsive element binding protein 3 like 4 gene DOID:5812 MHC class II deficiency ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8755787 Creb3l4 cAMP responsive element binding protein 3 like 4 gene DOID:630 genetic disease ISO RGD:1347233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755787 Creb3l4 cAMP responsive element binding protein 3 like 4 gene DOID:8634 prostate carcinoma in situ severity ISO RGD:1347233 D RGD:9068941 20200609 RGD PMID:17270658|REF_RGD_ID:13504714 8755787 Creb3l4 cAMP responsive element binding protein 3 like 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8755787 Creb3l4 cAMP responsive element binding protein 3 like 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1347233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8755787 Creb3l4 cAMP responsive element binding protein 3 like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8755809 Nalf1 NALCN channel auxiliary factor 1 gene DOID:630 genetic disease ISO RGD:2293495 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755809 Nalf1 NALCN channel auxiliary factor 1 gene DOID:7475 diverticulitis ISO RGD:2293495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28585551 8755809 Nalf1 NALCN channel auxiliary factor 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:2293495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8755833 Slc44a5 solute carrier family 44 member 5 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1604721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 8755833 Slc44a5 solute carrier family 44 member 5 gene DOID:630 genetic disease ISO RGD:1604721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755864 Adamtsl3 ADAMTS like 3 gene DOID:13938 amenorrhea ISO RGD:1313018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8755864 Adamtsl3 ADAMTS like 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1313018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8755864 Adamtsl3 ADAMTS like 3 gene DOID:2717 Bloom syndrome ISO RGD:1313018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8755864 Adamtsl3 ADAMTS like 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1313018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8755864 Adamtsl3 ADAMTS like 3 gene DOID:630 genetic disease ISO RGD:1313018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755864 Adamtsl3 ADAMTS like 3 gene DOID:9256 colorectal cancer ISO RGD:1313018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8755903 Fbxl6 F-box and leucine rich repeat protein 6 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1353759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8755903 Fbxl6 F-box and leucine rich repeat protein 6 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1353759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8755903 Fbxl6 F-box and leucine rich repeat protein 6 gene DOID:4621 holoprosencephaly ISO RGD:1353759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8755903 Fbxl6 F-box and leucine rich repeat protein 6 gene DOID:630 genetic disease ISO RGD:1353759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755918 Fkbp6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:0060041 autism spectrum disorder ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8755918 Fkbp6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:12336 male infertility ISO RGD:1318976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868|PMID:36150389 8755918 Fkbp6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:12849 autistic disorder ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8755918 Fkbp6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:1928 Williams-Beuren syndrome ISO RGD:1318976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8755918 Fkbp6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8755918 Fkbp6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:5419 schizophrenia ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8755918 Fkbp6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:630 genetic disease ISO RGD:1318976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755918 Fkbp6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:8445 intestinal volvulus ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8755918 Fkbp6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8755918 Fkbp6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:9005311 Spermatogenic Failure 77 ISO RGD:1318976 D RGD:7240710 20221102 OMIM 8755918 Fkbp6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:9005311 Spermatogenic Failure 77 ISO RGD:1318976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 77 PMID:25741868|PMID:36150389 8755918 Fkbp6 FKBP prolyl isomerase family member 6 (inactive) gene DOID:9008419 Volvulus Of Midgut ISO RGD:1318976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8755931 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1319419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 8755931 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:1059 intellectual disability ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8755931 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:12849 autistic disorder ISO RGD:1319419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 8755931 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:1932 Angelman syndrome ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 8755931 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:5419 schizophrenia ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8755931 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:630 genetic disease ISO RGD:1319419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8755931 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:9001610 Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome ISO RGD:1319419 D RGD:7240710 20190315 OMIM 8755931 Nsmce3 NSE3 homolog, SMC5-SMC6 complex component gene DOID:9001610 Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome ISO RGD:1319419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome PMID:20864041|PMID:25741868|PMID:27427983|PMID:28492532 8755936 Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:13938 amenorrhea ISO RGD:731323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8755936 Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:2717 Bloom syndrome ISO RGD:731323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8755936 Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:630 genetic disease ISO RGD:731323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8755936 Sh3gl3 SH3 domain containing GRB2 like 3, endophilin A3 gene DOID:9256 colorectal cancer ISO RGD:731323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8755955 Pde10a phosphodiesterase 10A gene DOID:0081292 traumatic brain injury ISO RGD:68434 D RGD:9068941 20200609 RGD PMID:29215295|REF_RGD_ID:13513923 8755955 Pde10a phosphodiesterase 10A gene DOID:630 genetic disease ISO RGD:68649 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8755955 Pde10a phosphodiesterase 10A gene DOID:9004996 Infantile-Onset Limb and Orofacial Dyskinesia ISO RGD:68649 D RGD:7240710 20190315 OMIM 8755955 Pde10a phosphodiesterase 10A gene DOID:9004996 Infantile-Onset Limb and Orofacial Dyskinesia ISO RGD:68649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset PMID:25741868|PMID:27058446|PMID:28492532|PMID:29159890|PMID:32581362 8755955 Pde10a phosphodiesterase 10A gene DOID:9005156 Striatal Degeneration, Autosomal Dominant 2 ISO RGD:68649 D RGD:7240710 20190315 OMIM 8755955 Pde10a phosphodiesterase 10A gene DOID:9005156 Striatal Degeneration, Autosomal Dominant 2 ISO RGD:68649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 2 PMID:25741868|PMID:27058447|PMID:28492532|PMID:29159890|PMID:29165877 8755955 Pde10a phosphodiesterase 10A gene DOID:9005603 Muscle Hypotonia ISO RGD:68649 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:27058446|PMID:32581362 8755955 Pde10a phosphodiesterase 10A gene DOID:9008086 Developmental Disabilities ISO RGD:68649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:27058446|PMID:32581362 8756003 Clec4f C-type lectin domain family 4 member F gene DOID:543 dystonia ISO RGD:1354444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8756003 Clec4f C-type lectin domain family 4 member F gene DOID:630 genetic disease ISO RGD:1354444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756003 Clec4f C-type lectin domain family 4 member F gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1354444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8756003 Clec4f C-type lectin domain family 4 member F gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8756023 Ushbp1 USH1 protein network component harmonin binding protein 1 gene DOID:630 genetic disease ISO RGD:1322004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756057 Chtf8 chromosome transmission fidelity factor 8 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8756057 Chtf8 chromosome transmission fidelity factor 8 gene DOID:630 genetic disease ISO RGD:1606282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756065 Vsir V-set immunoregulatory receptor gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1605963 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:25741868 8756065 Vsir V-set immunoregulatory receptor gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1605963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 8756065 Vsir V-set immunoregulatory receptor gene DOID:0110831 Usher syndrome type 1D ISO RGD:1605963 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID PMID:25741868 8756065 Vsir V-set immunoregulatory receptor gene DOID:0111330 combined saposin deficiency ISO RGD:1605963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 8756065 Vsir V-set immunoregulatory receptor gene DOID:0112008 pituitary adenoma 5 ISO RGD:1605963 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:25741868 8756065 Vsir V-set immunoregulatory receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8756104 Cyrib CYFIP related Rac1 interactor B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8756104 Cyrib CYFIP related Rac1 interactor B gene DOID:9775 diastolic heart failure ISO RGD:1354500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8756132 Nmral1 NmrA like redox sensor 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8756132 Nmral1 NmrA like redox sensor 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8756132 Nmral1 NmrA like redox sensor 1 gene DOID:1826 epilepsy ISO RGD:1603207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8756132 Nmral1 NmrA like redox sensor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8756132 Nmral1 NmrA like redox sensor 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8756132 Nmral1 NmrA like redox sensor 1 gene DOID:630 genetic disease ISO RGD:1603207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756146 Cnbd1 cyclic nucleotide binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1603547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756162 Vps35l VPS35 endosomal protein sorting factor like gene DOID:9008236 Ritscher-Schinzel Syndrome 3 ISO RGD:1603979 D RGD:7240710 20210113 OMIM 8756162 Vps35l VPS35 endosomal protein sorting factor like gene DOID:9008236 Ritscher-Schinzel Syndrome 3 ISO RGD:1603979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 3 PMID:31712251 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1354327 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:12807974|PMID:16987171|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34008892 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0050771 pheochromocytoma ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:22517554|PMID:22703879|PMID:23342407|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0050773 paraganglioma ISO RGD:1354327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:12658451|PMID:12807974|PMID:15989954|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0050773 paraganglioma ISO RGD:1354327 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:31194233|PMID:31308404|PMID:32035780|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0050773 paraganglioma ISO RGD:1354327 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19245779|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:25787132|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29305721|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31308404|PMID:32035780|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1354327 D RGD:7240710 20180130 OMIM 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1354327 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:12658451|PMID:12807974|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19454582|PMID:21173220|PMID:23083876|PMID:23282968|PMID:23342407|PMID:24033266|PMID:24402737|PMID:24423348|PMID:24523625|PMID:24758179|PMID:25024072|PMID:25741868|PMID:25787132|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27700540|PMID:28492532|PMID:28819017|PMID:30548481|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B PMID:26378787 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0110158 Charcot-Marie-Tooth disease type 2I ISO RGD:1354327 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I PMID:16987171|PMID:25741868|PMID:28492532|PMID:34008892 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelination, severe congenital PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D ISO RGD:1354327 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D PMID:16987171|PMID:25741868|PMID:28492532|PMID:34008892 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354327 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:12807974|PMID:16987171|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34008892 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:1540 parathyroid carcinoma ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:1612 breast cancer ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:23175444|PMID:24033266|PMID:24466223|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:2394 ovarian cancer ISO RGD:1354327 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23175444|PMID:24033266|PMID:24466223|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:3247 rhabdomyosarcoma ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:23083876|PMID:24423348|PMID:24758179|PMID:25741868|PMID:27700540|PMID:28492532|PMID:33372952 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:3652 Leigh disease ISO RGD:1553681 D RGD:9068941 20220825 MouseDO OMIM:256000 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1354327 D RGD:9068941 20210820 RGD DNA:SNP: 3'utr (rs12064957) (human) PMID:25576295|REF_RGD_ID:150340558 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:769 neuroblastoma ISO RGD:1354327 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:21979946|PMID:25741868|PMID:28492532 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:7240710 20180130 OMIM 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:25950479|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:31308404|PMID:33372952|PMID:34558728|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:27913608|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:32035780|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33748650|PMID:34558728|PMID:35441217|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:25787132|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:27913608|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:32035780|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33748650|PMID:34558728|PMID:35441217|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9003626 Paragangliomas 3 ISO RGD:1354327 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19245779|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:25787132|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:27913608|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29305721|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31308404|PMID:32035780|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33748650|PMID:34558728|PMID:35441217|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1354327 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:22703879|PMID:23342407|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1354327 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17898811|PMID:19245779|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25637381|PMID:25741868|PMID:25787132|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:29305721|PMID:29386252|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31308404|PMID:32035780|PMID:32688340|PMID:33332384|PMID:33748650|PMID:34558728|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11062460|PMID:12658451|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17376234|PMID:17576681|PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:31308404|PMID:34558728|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:17298551|PMID:17376234|PMID:17468193|PMID:17576681|PMID:17667967|PMID:17898811|PMID:19351833|PMID:19454582|PMID:21106325|PMID:21173220|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:26173966|PMID:26273102|PMID:26467025|PMID:26492543|PMID:27153395|PMID:27279923|PMID:27700540|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:31308404|PMID:34558728|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:34663632|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354327 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:11062460|PMID:12658451|PMID:12807974|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26173966|PMID:26198225|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33397043|PMID:33748650|PMID:34558728|PMID:34663632|PMID:35441217|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9007167 Carney Triad ISO RGD:1354327 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA PMID:12658451|PMID:17576681|PMID:17667967|PMID:17804857|PMID:19351833|PMID:21173220|PMID:21822798|PMID:24402737|PMID:25787132|PMID:26173966|PMID:28492532|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:7240710 20180130 OMIM 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17376234|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25741868|PMID:25787132|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30548481|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25787132|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:35441217|PMID:9536098 8756208 Sdhc succinate dehydrogenase complex subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354327 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11062460|PMID:12658451|PMID:12807974|PMID:15342702|PMID:15989954|PMID:16199547|PMID:16249420|PMID:16405730|PMID:17298551|PMID:17468193|PMID:17576681|PMID:17636259|PMID:17667967|PMID:17804857|PMID:17898811|PMID:18212813|PMID:18491383|PMID:18681855|PMID:19245779|PMID:19332149|PMID:19351833|PMID:19454582|PMID:19546167|PMID:19906784|PMID:21106325|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21822798|PMID:21979946|PMID:22136840|PMID:22351710|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22868853|PMID:23083876|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23342407|PMID:23512077|PMID:23612575|PMID:23666964|PMID:24033266|PMID:24096523|PMID:24102379|PMID:24150194|PMID:24402737|PMID:24423348|PMID:24466223|PMID:24523625|PMID:24625421|PMID:24728327|PMID:24758179|PMID:24781345|PMID:25024072|PMID:25025441|PMID:25394176|PMID:25494863|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25787132|PMID:25950479|PMID:25950813|PMID:26162468|PMID:26173966|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27262318|PMID:27279923|PMID:27485256|PMID:27700540|PMID:27867439|PMID:27913608|PMID:28202063|PMID:28412079|PMID:28492532|PMID:28819017|PMID:28873162|PMID:29305721|PMID:29386252|PMID:29641532|PMID:29878124|PMID:30050099|PMID:30201732|PMID:30548481|PMID:30583724|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31666924|PMID:32035780|PMID:32144272|PMID:32688340|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33748650|PMID:34558728|PMID:35441217|PMID:9536098 8756240 Sorcs3 sortilin related VPS10 domain containing receptor 3 gene DOID:630 genetic disease ISO RGD:1322178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756279 Fut11 fucosyltransferase 11 gene DOID:10534 stomach cancer ISO RGD:735764 D RGD:9068941 20231104 RGD human cells in mouse model PMID:37483811|REF_RGD_ID:401854242 8756279 Fut11 fucosyltransferase 11 gene DOID:10534 stomach cancer severity ISO RGD:735764 D RGD:9068941 20231104 RGD mRNA, protein:increased expression:stomach (human) PMID:37483811|REF_RGD_ID:401854242 8756279 Fut11 fucosyltransferase 11 gene DOID:630 genetic disease ISO RGD:735764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756295 Rad50 RAD50 double strand break repair protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8756295 Rad50 RAD50 double strand break repair protein gene DOID:0080777 lung sarcomatoid carcinoma ISO RGD:733899 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lung sarcomatoid carcinoma PMID:16474176|PMID:24894818|PMID:25741868|PMID:26787654|PMID:28492532|PMID:33471991 8756295 Rad50 RAD50 double strand break repair protein gene DOID:10283 prostate cancer ISO RGD:733899 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:26467025|PMID:28492532|PMID:33339169 8756295 Rad50 RAD50 double strand break repair protein gene DOID:10787 premature menopause ISO RGD:733899 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:16385572|PMID:25503501|PMID:25741868|PMID:28492532|PMID:30924587|PMID:31159747|PMID:31980526|PMID:32658311|PMID:33471991 8756295 Rad50 RAD50 double strand break repair protein gene DOID:1612 breast cancer ISO RGD:733899 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 8756295 Rad50 RAD50 double strand break repair protein gene DOID:2394 ovarian cancer ISO RGD:733899 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22216297|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26757417|PMID:26787654|PMID:27783279|PMID:28102005|PMID:28492532|PMID:28550065|PMID:28961279|PMID:29338689|PMID:29891727|PMID:29926297|PMID:30306255|PMID:30441849|PMID:30982232|PMID:31159747|PMID:31360874|PMID:31742824|PMID:32566746|PMID:32854451|PMID:33471991|PMID:33563768|PMID:34716202|PMID:35186721 8756295 Rad50 RAD50 double strand break repair protein gene DOID:2661 myoepithelioma ISO RGD:733899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:28492532 8756295 Rad50 RAD50 double strand break repair protein gene DOID:2671 transitional cell carcinoma ISO RGD:733899 D RGD:9068941 20200609 RGD upper urinary tract urothelial cell carcinoma; DNA:mutation:tumor:associated with microsatellite instability PMID:16288216|REF_RGD_ID:2293511 8756295 Rad50 RAD50 double strand break repair protein gene DOID:2841 asthma ISO RGD:733899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24241537 8756295 Rad50 RAD50 double strand break repair protein gene DOID:3008 invasive ductal carcinoma ISO RGD:733899 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:reduced in 28% vs adjacent or independent normal breast tissue PMID:14511253|REF_RGD_ID:2300250 8756295 Rad50 RAD50 double strand break repair protein gene DOID:3459 breast carcinoma ISO RGD:733899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:19409520|PMID:25741868|PMID:26023681|PMID:28123851|PMID:28492532|PMID:31794323|PMID:31980526|PMID:32658311|PMID:33471991 8756295 Rad50 RAD50 double strand break repair protein gene DOID:5082 liver cirrhosis treatment ISO RGD:621542 D RGD:9068941 20200609 RGD PMID:21893185|REF_RGD_ID:9831391 8756295 Rad50 RAD50 double strand break repair protein gene DOID:5426 primary ovarian insufficiency ISO RGD:733899 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:16385572|PMID:25503501|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30924587|PMID:31159747|PMID:31980526|PMID:32658311|PMID:33471991 8756295 Rad50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:29338689|PMID:29752822|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31666926|PMID:32295079|PMID:32566746 8756295 Rad50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:29338689|PMID:29752822|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31666926|PMID:32295079|PMID:32566746 8756295 Rad50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24240112|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29752822|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991 8756295 Rad50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991 8756295 Rad50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:27913932|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32984025|PMID:33378670|PMID:33471991|PMID:34567246|PMID:35884469 8756295 Rad50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24763289|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:27913932|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33378670|PMID:33471991|PMID:33563768|PMID:34567246|PMID:35884469|PMID:37262986 8756295 Rad50 RAD50 double strand break repair protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733899 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:16385572|PMID:18281469|PMID:19409520|PMID:23555315|PMID:24763289|PMID:24894818|PMID:25151137|PMID:25452441|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26824983|PMID:27732944|PMID:27783279|PMID:27913932|PMID:28492532|PMID:28550065|PMID:28873162|PMID:29338689|PMID:29566657|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29961768|PMID:30306255|PMID:30441849|PMID:30755392|PMID:31159747|PMID:31589614|PMID:31666926|PMID:31742824|PMID:32019284|PMID:32295079|PMID:32566746|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33378670|PMID:33471991|PMID:33563768|PMID:34567246|PMID:35534218|PMID:35884469|PMID:36135357|PMID:37262986 8756295 Rad50 RAD50 double strand break repair protein gene DOID:5844 myocardial infarction treatment ISO RGD:621542 D RGD:9068941 20200609 RGD PMID:15623426|REF_RGD_ID:9831390 8756295 Rad50 RAD50 double strand break repair protein gene DOID:630 genetic disease ISO RGD:733899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8756295 Rad50 RAD50 double strand break repair protein gene DOID:684 hepatocellular carcinoma ISO RGD:733899 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:16385572|PMID:18281469|PMID:19409520|PMID:24894818|PMID:25452441|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29961768|PMID:31159747|PMID:31589614|PMID:32295079 8756295 Rad50 RAD50 double strand break repair protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8756295 Rad50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10415333|PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19092773|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25828805|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29484706|PMID:29506128|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30630526|PMID:30680046|PMID:30788456|PMID:30982232|PMID:31159747|PMID:31512090|PMID:31666926|PMID:31921681|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32854451|PMID:33240314|PMID:33471991|PMID:33606809|PMID:34371384|PMID:9536098 8756295 Rad50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29484706|PMID:29506128|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30788456|PMID:30982232|PMID:31159747|PMID:31512090|PMID:31666926|PMID:31921681|PMID:32187176|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32854451|PMID:33240314|PMID:33471991|PMID:33606809|PMID:34371384|PMID:9536098 8756295 Rad50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32332016|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33134171|PMID:33240314|PMID:33378670|PMID:33471991|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34572942|PMID:9536098 8756295 Rad50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31159747|PMID:31345636|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34567246|PMID:34572942|PMID:34716202|PMID:35186721|PMID:35187501|PMID:35626031|PMID:35884469|PMID:36035419|PMID:9536098 8756295 Rad50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10892749|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29926297|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31159747|PMID:31345636|PMID:31360874|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34567246|PMID:34572942|PMID:34716202|PMID:35089076|PMID:35186721|PMID:35187501|PMID:35250968|PMID:35626031|PMID:35884469|PMID:36035419|PMID:9536098 8756295 Rad50 RAD50 double strand break repair protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733899 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10892749|PMID:12023982|PMID:12208847|PMID:12376507|PMID:14684699|PMID:14698290|PMID:15852023|PMID:15855896|PMID:15948962|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:17713585|PMID:17963004|PMID:18281469|PMID:18487285|PMID:1887849|PMID:19190165|PMID:19279422|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19763152|PMID:19904603|PMID:19917125|PMID:20307669|PMID:20571869|PMID:20600922|PMID:20685668|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21356067|PMID:21441914|PMID:21643010|PMID:21757780|PMID:21778326|PMID:21811815|PMID:2185891|PMID:22204421|PMID:22216297|PMID:22406018|PMID:23265383|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24556621|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25640679|PMID:25741868|PMID:25927356|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27328445|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28241424|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29926297|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30178487|PMID:30262796|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30311369|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30755392|PMID:30765449|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31068370|PMID:31138192|PMID:31159747|PMID:31308508|PMID:31345636|PMID:31360874|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31911633|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32187176|PMID:32255556|PMID:32295079|PMID:32313009|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32854451|PMID:32984025|PMID:32994724|PMID:33099839|PMID:33134171|PMID:33240314|PMID:33339169|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33606978|PMID:33754015|PMID:34371384|PMID:34567246|PMID:34572942|PMID:34598035|PMID:34716202|PMID:35089076|PMID:35186721|PMID:35187501|PMID:35250968|PMID:35534218|PMID:35626031|PMID:35884469|PMID:36035419|PMID:36135357|PMID:36139606|PMID:36315513|PMID:36818284|PMID:37262986|PMID:9536098 8756295 Rad50 RAD50 double strand break repair protein gene DOID:9008829 Nijmegen Breakage Syndrome-Like Disorder ISO RGD:733899 D RGD:7240710 20180130 OMIM 8756295 Rad50 RAD50 double strand break repair protein gene DOID:9008829 Nijmegen Breakage Syndrome-Like Disorder ISO RGD:733899 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder | ClinVar Annotator: match by term: RAD50 DEFICIENCY PMID:10892749|PMID:14684699|PMID:15855896|PMID:16199547|PMID:16385572|PMID:16474176|PMID:17576681|PMID:18281469|PMID:1887849|PMID:19190165|PMID:19383352|PMID:19409520|PMID:19584272|PMID:19638463|PMID:19904603|PMID:19917125|PMID:20571869|PMID:20805886|PMID:20981092|PMID:21757780|PMID:21778326|PMID:21811815|PMID:22216297|PMID:23555315|PMID:24079363|PMID:24093751|PMID:24123366|PMID:24448499|PMID:24497844|PMID:24549055|PMID:24763289|PMID:24853695|PMID:24894818|PMID:25117502|PMID:25151137|PMID:25452441|PMID:25503501|PMID:25741868|PMID:26023681|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26564480|PMID:26635394|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:27009842|PMID:27016235|PMID:27153395|PMID:27498913|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27783279|PMID:27844240|PMID:27884173|PMID:27913932|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28102005|PMID:28123851|PMID:28152038|PMID:28202063|PMID:28376765|PMID:28492532|PMID:28541631|PMID:28550065|PMID:28591191|PMID:28687971|PMID:28709830|PMID:28715532|PMID:28821472|PMID:28873162|PMID:28888541|PMID:28961279|PMID:29143133|PMID:29338689|PMID:29368209|PMID:29484706|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29726012|PMID:29752822|PMID:29785153|PMID:29891727|PMID:29895855|PMID:29926297|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30441849|PMID:30613976|PMID:30680046|PMID:30755392|PMID:30788456|PMID:30924587|PMID:30982232|PMID:31159747|PMID:31308508|PMID:31345636|PMID:31360874|PMID:31512090|PMID:31589614|PMID:31666926|PMID:31721094|PMID:31742824|PMID:31794323|PMID:31921681|PMID:31980526|PMID:32008151|PMID:32019284|PMID:32077636|PMID:32212377|PMID:32295079|PMID:32332016|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32832836|PMID:32854451|PMID:32984025|PMID:33134171|PMID:33378670|PMID:33421217|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33606978|PMID:34371384|PMID:34567246|PMID:34572942|PMID:34716202|PMID:35089076|PMID:35186721|PMID:35250968|PMID:35534218|PMID:35884469|PMID:36135357|PMID:36139606|PMID:36315513|PMID:37262986|PMID:9536098 8756295 Rad50 RAD50 double strand break repair protein gene DOID:9008939 Breast Neoplasms ISO RGD:733899 D RGD:9068941 20200609 RGD DNA:deletion, splicing error::687delT, increased frequency in Finnish patients (8/317, p=0.008), possibly a founder mutation PMID:16474176|REF_RGD_ID:2300220 8756295 Rad50 RAD50 double strand break repair protein gene DOID:9008939 Breast Neoplasms treatment ISO RGD:733899 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11373271|REF_RGD_ID:9831192 8756295 Rad50 RAD50 double strand break repair protein gene DOID:9008952 Breast Cancer, Familial ISO RGD:733899 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:14684699|PMID:15855896|PMID:16385572|PMID:19383352|PMID:19409520|PMID:19584272|PMID:20571869|PMID:20805886|PMID:23555315|PMID:24497844|PMID:24894818|PMID:25741868|PMID:26094658|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26787654|PMID:27153395|PMID:27782108|PMID:27844240|PMID:27884173|PMID:28202063|PMID:28492532|PMID:28550065|PMID:28591191|PMID:29484706|PMID:29945567|PMID:30306255|PMID:30441849|PMID:31159747|PMID:32332016|PMID:32566746|PMID:32854451|PMID:33471991|PMID:33563768|PMID:36315513 8756323 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1320554 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CDG Ii | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II PMID:12684507|PMID:20813212|PMID:25741868|PMID:28492532|PMID:30061496|PMID:33644825 8756323 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:1320554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type II PMID:12684507|PMID:28492532 8756323 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1320554 D RGD:7240710 20180130 OMIM 8756323 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1320554 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I | ClinVar Annotator: match by term: Congenital disorder of glycosylation type II PMID:12684507|PMID:20813212|PMID:25741868|PMID:28492532|PMID:30061496|PMID:33644825 8756323 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1320554 D RGD:7240710 20180130 OMIM 8756323 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1320554 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 14 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:12684507|PMID:20813212|PMID:23404334|PMID:25741868|PMID:28492532|PMID:30061496 8756323 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1320554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8756323 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:12712 nephronophthisis ISO RGD:1320554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8756323 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1320554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:21358634|PMID:28492532 8756323 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:3635 congenital myasthenic syndrome ISO RGD:1320554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8756323 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1320554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 8756323 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1320554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8756335 Cand2 cullin associated and neddylation dissociated 2 (putative) gene DOID:0060224 atrial fibrillation ISO RGD:733192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8756335 Cand2 cullin associated and neddylation dissociated 2 (putative) gene DOID:0060224 atrial fibrillation no_association ISO RGD:733192 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs4642101 (human) PMID:29459676|REF_RGD_ID:18899563 8756335 Cand2 cullin associated and neddylation dissociated 2 (putative) gene DOID:630 genetic disease ISO RGD:733192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756335 Cand2 cullin associated and neddylation dissociated 2 (putative) gene DOID:9001136 Familial Cerebral Cavernous Malformation ISO RGD:1551563 D RGD:9068941 20200609 RGD PMID:31426861|REF_RGD_ID:18899564 8756335 Cand2 cullin associated and neddylation dissociated 2 (putative) gene DOID:9008652 Postoperative Atrial Fibrillation ISO RGD:733192 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs4642101 (human) PMID:27203392|REF_RGD_ID:18899562 8756358 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8756358 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:0111940 immunodeficiency 42 ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8756358 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8756358 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8756358 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8756358 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:5812 MHC class II deficiency ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8756358 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:630 genetic disease ISO RGD:1344929 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756358 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:9008939 Breast Neoplasms ISO RGD:1344929 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 8756358 Cks1b CDC28 protein kinase regulatory subunit 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8756365 Ldhal6b lactate dehydrogenase A like 6B gene DOID:0111131 focal segmental glomerulosclerosis 6 ISO RGD:1342929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 PMID:25741868 8756365 Ldhal6b lactate dehydrogenase A like 6B gene DOID:2717 Bloom syndrome ISO RGD:1342929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8756365 Ldhal6b lactate dehydrogenase A like 6B gene DOID:630 genetic disease ISO RGD:1342929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756365 Ldhal6b lactate dehydrogenase A like 6B gene DOID:9008939 Breast Neoplasms ISO RGD:1342929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8756365 Ldhal6b lactate dehydrogenase A like 6B gene DOID:9256 colorectal cancer ISO RGD:1342929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8756374 Smim43 small integral membrane protein 43 gene DOID:630 genetic disease ISO RGD:1604239 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756374 Smim43 small integral membrane protein 43 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1604239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8756374 Smim43 small integral membrane protein 43 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8756374 Smim43 small integral membrane protein 43 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8756380 Pstpip1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:0080519 PAPA syndrome ISO RGD:1316821 D RGD:7240710 20180130 OMIM 8756380 Pstpip1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:0080519 PAPA syndrome ISO RGD:1316821 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial recurrent arthritis | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum and acne | ClinVar Annotator: match by term: Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne PMID:11971877|PMID:14595024|PMID:15580218|PMID:16199547|PMID:16527883|PMID:17576681|PMID:19673875|PMID:19934105|PMID:20506269|PMID:22161697|PMID:22513199|PMID:23571383|PMID:24139496|PMID:25683018|PMID:25741868|PMID:25845478|PMID:26025129|PMID:26386126|PMID:27577878|PMID:28492532|PMID:28628471|PMID:28960754|PMID:29150835|PMID:29432774|PMID:30198636|PMID:30290665|PMID:30783801|PMID:31119601|PMID:31789267|PMID:32054657|PMID:32441320|PMID:32888943|PMID:33597285|PMID:34273117|PMID:34399798|PMID:34620178|PMID:35152348|PMID:35482138|PMID:9536098 8756380 Pstpip1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:13241 Behcet's disease ISO RGD:1316821 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome PMID:25741868|PMID:28492532 8756380 Pstpip1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:2280 hidradenitis suppurativa ISO RGD:1316821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8756380 Pstpip1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1316821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8756380 Pstpip1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1316821 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:25741868|PMID:27577878|PMID:28492532|PMID:30290665|PMID:35482138 8756380 Pstpip1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1316821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8756380 Pstpip1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:630 genetic disease ISO RGD:1316821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8756380 Pstpip1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:6543 acne ISO RGD:1316821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8756380 Pstpip1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:8553 pyoderma gangrenosum ISO RGD:1316821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8756380 Pstpip1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8756380 Pstpip1 proline-serine-threonine phosphatase interacting protein 1 gene DOID:9256 colorectal cancer ISO RGD:1316821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8756415 Ankrd22 ankyrin repeat domain 22 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1317302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 8756415 Ankrd22 ankyrin repeat domain 22 gene DOID:630 genetic disease ISO RGD:1317302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756415 Ankrd22 ankyrin repeat domain 22 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1317302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 8756448 Kat7 lysine acetyltransferase 7 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:737003 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8756448 Kat7 lysine acetyltransferase 7 gene DOID:10283 prostate cancer ISO RGD:737003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8756448 Kat7 lysine acetyltransferase 7 gene DOID:1612 breast cancer severity ISO RGD:737003 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:21040551|REF_RGD_ID:9681004 8756448 Kat7 lysine acetyltransferase 7 gene DOID:4674 androgen insensitivity syndrome ISO RGD:737003 D RGD:9068941 20200609 RGD protein:decreased expression:testes (human) PMID:23707616|REF_RGD_ID:9681005 8756448 Kat7 lysine acetyltransferase 7 gene DOID:630 genetic disease ISO RGD:737003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756488 Ssc5d scavenger receptor cysteine rich family member with 5 domains gene DOID:630 genetic disease ISO RGD:1604711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756518 Pof1b POF1B actin binding protein gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 8756518 Pof1b POF1B actin binding protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8756518 Pof1b POF1B actin binding protein gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1351618 D RGD:7240710 20180130 OMIM 8756518 Pof1b POF1B actin binding protein gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2B PMID:15459172|PMID:16773570|PMID:21940798|PMID:25676666|PMID:25741868|PMID:28492532 8756518 Pof1b POF1B actin binding protein gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 8756518 Pof1b POF1B actin binding protein gene DOID:12849 autistic disorder ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8756518 Pof1b POF1B actin binding protein gene DOID:5426 primary ovarian insufficiency ISO RGD:1351618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:15459172|PMID:16773570|PMID:21940798|PMID:25676666|PMID:25741868|PMID:28492532 8756518 Pof1b POF1B actin binding protein gene DOID:630 genetic disease ISO RGD:1351618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756539 Spmip4 sperm microtubule inner protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8756539 Spmip4 sperm microtubule inner protein 4 gene DOID:630 genetic disease ISO RGD:1349806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756554 Lrrc70 leucine rich repeat containing 70 gene DOID:630 genetic disease ISO RGD:2302535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756554 Lrrc70 leucine rich repeat containing 70 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8756559 Clec3a C-type lectin domain family 3 member A gene DOID:0060041 autism spectrum disorder ISO RGD:1604398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8756559 Clec3a C-type lectin domain family 3 member A gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1604398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 8756559 Clec3a C-type lectin domain family 3 member A gene DOID:630 genetic disease ISO RGD:1604398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756566 Gpatch3 G-patch domain containing 3 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1347677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8756566 Gpatch3 G-patch domain containing 3 gene DOID:630 genetic disease ISO RGD:1347677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:0110878 holoprosencephaly 5 ISO RGD:1352399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:10283 prostate cancer ISO RGD:1352399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:13580 cholestasis ISO RGD:620266 D RGD:9068941 20200609 RGD protein:altered expression:kidney, liver PMID:15030973|REF_RGD_ID:2301085 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:13580 cholestasis treatment ISO RGD:620266 D RGD:9068941 20200609 RGD PMID:30223280|REF_RGD_ID:15045612 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:620266 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:1561 cognitive disorder ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:289 endometriosis ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:303 substance-related disorder ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:630 genetic disease ISO RGD:1352399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:7148 rheumatoid arthritis ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003774 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003774 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:9002661 Diabetes Complications ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1352399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222202 8756577 Abcc4 ATP binding cassette subfamily C member 4 (PEL blood group) gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8756615 Slc66a2 solute carrier family 66 member 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1313123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8756615 Slc66a2 solute carrier family 66 member 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1313123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8756615 Slc66a2 solute carrier family 66 member 2 gene DOID:630 genetic disease ISO RGD:1313123 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756615 Slc66a2 solute carrier family 66 member 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1313123 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8756615 Slc66a2 solute carrier family 66 member 2 gene DOID:8445 intestinal volvulus ISO RGD:1313123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8756615 Slc66a2 solute carrier family 66 member 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1313123 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8756615 Slc66a2 solute carrier family 66 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8756615 Slc66a2 solute carrier family 66 member 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1313123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8756630 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:61847 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8756630 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:1184 nephrotic syndrome ISO RGD:61847 D RGD:9068941 20200609 RGD PMID:18614621|REF_RGD_ID:2313652 8756630 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:1909 melanoma ISO RGD:1345985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8756630 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:630 genetic disease ISO RGD:1345985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756630 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8756630 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1345985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9452481 8756630 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:61847 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8756630 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9007692 Insulin Resistance treatment ISO RGD:61847 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8756630 Gpam glycerol-3-phosphate acyltransferase, mitochondrial gene DOID:9970 obesity ISO RGD:61847 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet PMID:9032096|REF_RGD_ID:2313659 8756670 Ccnk cyclin K gene DOID:630 genetic disease ISO RGD:1317544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756670 Ccnk cyclin K gene DOID:9009238 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ISO RGD:1317544 D RGD:7240710 20190315 OMIM 8756670 Ccnk cyclin K gene DOID:9009238 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ISO RGD:1317544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies PMID:25741868|PMID:30122539 8756703 St6gal2 ST6 beta-galactoside alpha-2,6-sialyltransferase 2 gene DOID:5419 schizophrenia ISO RGD:1348221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8756703 St6gal2 ST6 beta-galactoside alpha-2,6-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756714 Cd226 CD226 molecule gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323011 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8756714 Cd226 CD226 molecule gene DOID:289 endometriosis ISO RGD:1323011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8756714 Cd226 CD226 molecule gene DOID:630 genetic disease ISO RGD:1323011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756714 Cd226 CD226 molecule gene DOID:6420 pulmonary valve stenosis ISO RGD:1323011 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8756714 Cd226 CD226 molecule gene DOID:8445 intestinal volvulus ISO RGD:1323011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8756714 Cd226 CD226 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1323011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8756714 Cd226 CD226 molecule gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1323011 D RGD:9068941 20201118 RGD PMID:21695691|REF_RGD_ID:40818295 8756714 Cd226 CD226 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8756714 Cd226 CD226 molecule gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8756714 Cd226 CD226 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16015041 8756714 Cd226 CD226 molecule gene DOID:9074 systemic lupus erythematosus ISO RGD:1323011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 8756733 Il1rapl2 interleukin 1 receptor accessory protein like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8756733 Il1rapl2 interleukin 1 receptor accessory protein like 2 gene DOID:12849 autistic disorder ISO RGD:1349606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8756733 Il1rapl2 interleukin 1 receptor accessory protein like 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1349606 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 8756733 Il1rapl2 interleukin 1 receptor accessory protein like 2 gene DOID:630 genetic disease ISO RGD:1349606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756748 Ccdc38 coiled-coil domain containing 38 gene DOID:630 genetic disease ISO RGD:1603366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756768 Dctn6 dynactin subunit 6 gene DOID:630 genetic disease ISO RGD:1316808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756782 Klhl11 kelch like family member 11 gene DOID:630 genetic disease ISO RGD:1315423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756789 Hivep2 HIVEP zinc finger 2 gene DOID:0060041 autism spectrum disorder ISO RGD:734342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8756789 Hivep2 HIVEP zinc finger 2 gene DOID:0060825 Christianson syndrome ISO RGD:734342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:25741868 8756789 Hivep2 HIVEP zinc finger 2 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:734342 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 PMID:25741868 8756789 Hivep2 HIVEP zinc finger 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:734342 D RGD:7240710 20190315 OMIM 8756789 Hivep2 HIVEP zinc finger 2 gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:734342 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: HIVEP2-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43 PMID:23020937|PMID:24033266|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532|PMID:29758562|PMID:36588750 8756789 Hivep2 HIVEP zinc finger 2 gene DOID:1059 intellectual disability ISO RGD:734342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8756789 Hivep2 HIVEP zinc finger 2 gene DOID:5419 schizophrenia ISO RGD:62280 D RGD:9068941 20220825 MouseDO OMIM:181500 8756789 Hivep2 HIVEP zinc finger 2 gene DOID:630 genetic disease ISO RGD:734342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12527760|PMID:1567844|PMID:22294689|PMID:23020937|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532 8756789 Hivep2 HIVEP zinc finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 8756789 Hivep2 HIVEP zinc finger 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:734342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8756810 Spryd4 SPRY domain containing 4 gene DOID:630 genetic disease ISO RGD:1603522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756816 Pcbp1 poly(rC) binding protein 1 gene DOID:0080600 COVID-19 ISO RGD:1353218 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8756816 Pcbp1 poly(rC) binding protein 1 gene DOID:0080600 COVID-19 ISO RGD:1561319 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8756816 Pcbp1 poly(rC) binding protein 1 gene DOID:630 genetic disease ISO RGD:1353218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756816 Pcbp1 poly(rC) binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8756816 Pcbp1 poly(rC) binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353218 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35639300 8756821 Ascc2 activating signal cointegrator 1 complex subunit 2 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1347917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8756821 Ascc2 activating signal cointegrator 1 complex subunit 2 gene DOID:630 genetic disease ISO RGD:1347917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756821 Ascc2 activating signal cointegrator 1 complex subunit 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1347917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 8756856 CUNH9orf78 chromosome unknown C9orf78 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8756869 Pdcd4 programmed cell death 4 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:732159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 8756869 Pdcd4 programmed cell death 4 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:732159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 8756869 Pdcd4 programmed cell death 4 gene DOID:630 genetic disease ISO RGD:732159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756869 Pdcd4 programmed cell death 4 gene DOID:8923 skin melanoma disease_progression ISO RGD:732159 D RGD:9068941 20220630 RGD mRNA:decreased expression:skin (human) PMID:26150475|REF_RGD_ID:11342032 8756869 Pdcd4 programmed cell death 4 gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:620816 D RGD:9068941 20230225 RGD PMID:30240970|REF_RGD_ID:156430315 8756869 Pdcd4 programmed cell death 4 gene DOID:9002056 Arterial Injury ISO RGD:620816 D RGD:9068941 20200609 RGD PMID:20357187|REF_RGD_ID:9589087 8756869 Pdcd4 programmed cell death 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23272133 8756869 Pdcd4 programmed cell death 4 gene DOID:9005172 Lung Neoplasms ISO RGD:732159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27323401 8756869 Pdcd4 programmed cell death 4 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732159 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27323401|PMID:27344173|PMID:28881718 8756901 Tpbg trophoblast glycoprotein gene DOID:0111953 immunodeficiency 23 ISO RGD:1345613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 8756901 Tpbg trophoblast glycoprotein gene DOID:630 genetic disease ISO RGD:1345613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756901 Tpbg trophoblast glycoprotein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8756941 Pcdha1 protocadherin alpha 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1352837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8756941 Pcdha1 protocadherin alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8756941 Pcdha1 protocadherin alpha 1 gene DOID:10283 prostate cancer ISO RGD:1352837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8756941 Pcdha1 protocadherin alpha 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1352837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8756941 Pcdha1 protocadherin alpha 1 gene DOID:2228 thrombocytosis ISO RGD:1352837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytosis PMID:25741868 8756941 Pcdha1 protocadherin alpha 1 gene DOID:630 genetic disease ISO RGD:1352837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8756941 Pcdha1 protocadherin alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8756941 Pcdha1 protocadherin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352837 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8756955 P2rx2 purinergic receptor P2X 2 gene DOID:0110567 autosomal dominant nonsyndromic deafness 41 ISO RGD:733979 D RGD:7240710 20180130 OMIM 8756955 P2rx2 purinergic receptor P2X 2 gene DOID:0110567 autosomal dominant nonsyndromic deafness 41 ISO RGD:733979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 41 PMID:12161595|PMID:23345450|PMID:24033266|PMID:24211385|PMID:25741868|PMID:25788561|PMID:28492532|PMID:31636190 8756955 P2rx2 purinergic receptor P2X 2 gene DOID:10003 sensorineural hearing loss ISO RGD:733979 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:28492532|PMID:30311386|PMID:34652575 8756955 P2rx2 purinergic receptor P2X 2 gene DOID:1826 epilepsy ISO RGD:733979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12941474 8756955 P2rx2 purinergic receptor P2X 2 gene DOID:630 genetic disease ISO RGD:733979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532 8756955 P2rx2 purinergic receptor P2X 2 gene DOID:9002211 Hyperalgesia ISO RGD:733979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19383439 8756955 P2rx2 purinergic receptor P2X 2 gene DOID:9256 colorectal cancer ISO RGD:733979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8756996 Slc17a8 solute carrier family 17 member 8 gene DOID:0080855 Parkinsonism ISO RGD:628870 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra pars reticulata, neuron, perikaryon PMID:17435391|REF_RGD_ID:9999153 8756996 Slc17a8 solute carrier family 17 member 8 gene DOID:0110555 autosomal dominant nonsyndromic deafness 25 ISO RGD:733222 D RGD:7240710 20180130 OMIM 8756996 Slc17a8 solute carrier family 17 member 8 gene DOID:0110555 autosomal dominant nonsyndromic deafness 25 ISO RGD:733222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 25 PMID:11115382|PMID:18674745|PMID:23967202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26797701|PMID:28492532|PMID:33229591 8756996 Slc17a8 solute carrier family 17 member 8 gene DOID:11446 sciatic neuropathy ISO RGD:628870 D RGD:9068941 20200609 RGD protein:decreased expression:nucleus accumbens PMID:23835161|REF_RGD_ID:9999206 8756996 Slc17a8 solute carrier family 17 member 8 gene DOID:224 transient cerebral ischemia ISO RGD:628870 D RGD:9068941 20200609 RGD PMID:23458738|REF_RGD_ID:9999193 8756996 Slc17a8 solute carrier family 17 member 8 gene DOID:5463 cochlear disease ISO RGD:628870 D RGD:9068941 20200609 RGD PMID:21215254|REF_RGD_ID:9999192 8756996 Slc17a8 solute carrier family 17 member 8 gene DOID:630 genetic disease ISO RGD:733222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 8756996 Slc17a8 solute carrier family 17 member 8 gene DOID:9002211 Hyperalgesia ISO RGD:628870 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn of spinal cord, neuron PMID:22160634|REF_RGD_ID:9999169 8756996 Slc17a8 solute carrier family 17 member 8 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:733222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 8756996 Slc17a8 solute carrier family 17 member 8 gene DOID:9784 trichinosis ISO RGD:628870 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn of spinal cord, dorsal root ganglion PMID:22160634|REF_RGD_ID:9999169 8757015 Tmx2 thioredoxin related transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1603042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8757015 Tmx2 thioredoxin related transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1603042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757015 Tmx2 thioredoxin related transmembrane protein 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1603042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:31586943|PMID:31735293 8757015 Tmx2 thioredoxin related transmembrane protein 2 gene DOID:9006716 Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity ISO RGD:1603042 D RGD:7240710 20200226 OMIM 8757015 Tmx2 thioredoxin related transmembrane protein 2 gene DOID:9006716 Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity ISO RGD:1603042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity PMID:25741868|PMID:31586943|PMID:31735293 8757033 Dcun1d1 defective in cullin neddylation 1 domain containing 1 gene DOID:0111546 Currarino syndrome ISO RGD:1602219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8757033 Dcun1d1 defective in cullin neddylation 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757047 Pes1 pescadillo ribosomal biogenesis factor 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345815 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34845814 8757047 Pes1 pescadillo ribosomal biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1345815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757068 Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:0080162 lupus nephritis ISO RGD:1322723 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22279542|REF_RGD_ID:7175260 8757068 Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1322723 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8757068 Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:1059 intellectual disability ISO RGD:1322723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8757068 Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1322723 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22279542|REF_RGD_ID:7175260 8757068 Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:3070 high grade glioma ISO RGD:1322723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8757068 Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 gene DOID:630 genetic disease ISO RGD:1322723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757079 Ccnjl cyclin J like gene DOID:630 genetic disease ISO RGD:1606241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757092 Znf207 zinc finger protein 207 gene DOID:630 genetic disease ISO RGD:1317710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:0060041 autism spectrum disorder ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736048 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:0112215 developmental and epileptic encephalopathy 79 ISO RGD:736048 D RGD:7240710 20190911 OMIM 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:0112215 developmental and epileptic encephalopathy 79 ISO RGD:736048 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 79 PMID:25741868|PMID:28492532|PMID:29961870|PMID:31056671|PMID:31513310 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:11983 Prader-Willi syndrome ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:12849 autistic disorder ISO RGD:736048 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:1596 depressive disorder ISO RGD:736048 D RGD:9068941 20200609 RGD DNA:repeat:: (human) PMID:9267853|REF_RGD_ID:1358629 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:1826 epilepsy ISO RGD:736048 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:1932 Angelman syndrome ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:3312 bipolar disorder ISO RGD:736048 D RGD:9068941 20200609 RGD PMID:9514592|REF_RGD_ID:1358630 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:5419 schizophrenia ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:630 genetic disease ISO RGD:736048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9004864 Isodicentric Chromosome 15 Syndrome ISO RGD:736048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23663378 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9007072 Social Communication Disorder ISO RGD:736048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27231709 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9008023 Memory Disorders ISO RGD:736048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20180861 8757125 Gabra5 gamma-aminobutyric acid type A receptor subunit alpha5 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:736048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26068938|PMID:26950270|PMID:28053010|PMID:28492532 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1352815 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:1380 endometrial cancer ISO RGD:1352815 D RGD:9068941 20200609 RGD DNA:hypermethylated PMID:15159323|REF_RGD_ID:2298926 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:1352815 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1352815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352815 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35305058 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:4001 ovarian carcinoma ISO RGD:1352815 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:15361843|REF_RGD_ID:2298907 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:630 genetic disease ISO RGD:1352815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:8986 narcolepsy ISO RGD:1352815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69273 D RGD:9068941 20200609 RGD PMID:11723173|REF_RGD_ID:2298928 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352815 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:16707422|REF_RGD_ID:2298925 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:9004484 Sepsis ISO RGD:69273 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius PMID:12644450|REF_RGD_ID:2298924 8757153 Socs2 suppressor of cytokine signaling 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352815 D RGD:9068941 20200609 RGD PMID:17651480|REF_RGD_ID:2298902 8757184 Arsg arylsulfatase G gene DOID:0050439 Usher syndrome ISO RGD:1602225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:29300381 8757184 Arsg arylsulfatase G gene DOID:0060041 autism spectrum disorder ISO RGD:1602225 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8757184 Arsg arylsulfatase G gene DOID:0080074 neural tube defect ISO RGD:1602225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 8757184 Arsg arylsulfatase G gene DOID:12798 mucopolysaccharidosis ISO RGD:1331908 D RGD:9068941 20220825 MouseDO OMIM:252700 8757184 Arsg arylsulfatase G gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:12390961 D RGD:9068941 20230629 OMIA Lysosomal storage disease, ARSG related PMID:12951908|PMID:15058771|PMID:15365721|PMID:16916197|PMID:20429032|PMID:20679209|PMID:22689975|PMID:23338040|PMID:24069350|PMID:25135642|PMID:25452429|PMID:27778018|PMID:28860089|PMID:32219101|PMID:37290756|PMID:37341581 8757184 Arsg arylsulfatase G gene DOID:630 genetic disease ISO RGD:1602225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8757184 Arsg arylsulfatase G gene DOID:9005209 Usher Syndrome Type 4 ISO RGD:1602225 D RGD:7240710 20190315 OMIM 8757184 Arsg arylsulfatase G gene DOID:9005209 Usher Syndrome Type 4 ISO RGD:1602225 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 PMID:25741868|PMID:28492532|PMID:29300381|PMID:32455177|PMID:33300174|PMID:33629623|PMID:34223797|PMID:35226187|PMID:36317447 8757240 Utf1 undifferentiated embryonic cell transcription factor 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8757240 Utf1 undifferentiated embryonic cell transcription factor 1 gene DOID:630 genetic disease ISO RGD:1346918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757250 Samd4a sterile alpha motif domain containing 4A gene DOID:0090043 dystonia 5 ISO RGD:1321222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 8757250 Samd4a sterile alpha motif domain containing 4A gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1321222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 8757250 Samd4a sterile alpha motif domain containing 4A gene DOID:303 substance-related disorder ISO RGD:1321222 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8757250 Samd4a sterile alpha motif domain containing 4A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1321222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 8757250 Samd4a sterile alpha motif domain containing 4A gene DOID:630 genetic disease ISO RGD:1321222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:0080685 aortic dissection ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1603357 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12417550|PMID:20929399|PMID:21612403|PMID:22722997|PMID:22911823|PMID:22948781|PMID:23758270|PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939|PMID:34281165|PMID:8100215 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:3144 cutis laxa ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:630 genetic disease ISO RGD:1603357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26838787|PMID:28492532|PMID:29961567 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:65 connective tissue disease ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:1603357 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related disorders PMID:12417550|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25017124|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:29086201|PMID:29961567|PMID:30675029|PMID:31211624|PMID:31211696|PMID:31459939|PMID:31506931|PMID:32860008|PMID:33648514|PMID:34281165|PMID:9536098 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:9002884 Emphysema ISO RGD:1603357 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Emphysema PMID:25741868|PMID:28492532 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:9005883 Pleural Effusion ISO RGD:1603357 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868|PMID:28492532 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1603357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 8757281 Srfbp1 serum response factor binding protein 1 gene DOID:9675 pulmonary emphysema ISO RGD:1603357 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary emphysema PMID:25741868|PMID:28492532 8757300 Ripor2 RHO family interacting cell polarization regulator 2 gene DOID:0110465 autosomal recessive nonsyndromic deafness 104 ISO RGD:1315839 D RGD:7240710 20180130 OMIM 8757300 Ripor2 RHO family interacting cell polarization regulator 2 gene DOID:0110465 autosomal recessive nonsyndromic deafness 104 ISO RGD:1315839 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition PMID:24033266|PMID:24958875|PMID:25741868|PMID:28492532 8757300 Ripor2 RHO family interacting cell polarization regulator 2 gene DOID:0110551 autosomal dominant nonsyndromic deafness 21 ISO RGD:1315839 D RGD:7240710 20220406 OMIM 8757300 Ripor2 RHO family interacting cell polarization regulator 2 gene DOID:0110551 autosomal dominant nonsyndromic deafness 21 ISO RGD:1315839 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 21 PMID:10764236|PMID:25741868|PMID:28492532|PMID:32631815 8757300 Ripor2 RHO family interacting cell polarization regulator 2 gene DOID:630 genetic disease ISO RGD:1315839 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8757332 Gorab golgin, RAB6 interacting gene DOID:0111266 geroderma osteodysplasticum ISO RGD:1603372 D RGD:7240710 20180130 OMIM 8757332 Gorab golgin, RAB6 interacting gene DOID:0111266 geroderma osteodysplasticum ISO RGD:1603372 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Geroderma osteodysplastica PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532|PMID:28807865|PMID:31829210|PMID:631850 8757332 Gorab golgin, RAB6 interacting gene DOID:11476 osteoporosis ISO RGD:1603372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18997784 8757332 Gorab golgin, RAB6 interacting gene DOID:1540 parathyroid carcinoma ISO RGD:1603372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8757332 Gorab golgin, RAB6 interacting gene DOID:630 genetic disease ISO RGD:1603372 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532|PMID:28807865 8757332 Gorab golgin, RAB6 interacting gene DOID:9001946 Skin Abnormalities ISO RGD:1603372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18997784 8757332 Gorab golgin, RAB6 interacting gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8757332 Gorab golgin, RAB6 interacting gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8757341 B3gnt7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 gene DOID:0060476 Perlman syndrome ISO RGD:1321569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8757341 B3gnt7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1321569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8757341 B3gnt7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 gene DOID:630 genetic disease ISO RGD:1321569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757349 Isg20l2 interferon stimulated exonuclease gene 20 like 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8757349 Isg20l2 interferon stimulated exonuclease gene 20 like 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8757349 Isg20l2 interferon stimulated exonuclease gene 20 like 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8757349 Isg20l2 interferon stimulated exonuclease gene 20 like 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8757349 Isg20l2 interferon stimulated exonuclease gene 20 like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8757349 Isg20l2 interferon stimulated exonuclease gene 20 like 2 gene DOID:5812 MHC class II deficiency ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8757349 Isg20l2 interferon stimulated exonuclease gene 20 like 2 gene DOID:630 genetic disease ISO RGD:1601738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757349 Isg20l2 interferon stimulated exonuclease gene 20 like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8757363 Acr acrosin gene DOID:0060041 autism spectrum disorder ISO RGD:736688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310 8757363 Acr acrosin gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:736688 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8757363 Acr acrosin gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8757363 Acr acrosin gene DOID:1059 intellectual disability ISO RGD:736688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 8757363 Acr acrosin gene DOID:630 genetic disease ISO RGD:736688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757363 Acr acrosin gene DOID:9008317 Spermatogenic Failure 87 ISO RGD:736688 D RGD:7240710 20230906 OMIM 8757363 Acr acrosin gene DOID:9008317 Spermatogenic Failure 87 ISO RGD:736688 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 87 PMID:37004249 8757371 Spink5 serine peptidase inhibitor Kazal type 5 gene DOID:0050474 Netherton syndrome ISO RGD:1315213 D RGD:7240710 20180130 OMIM 8757371 Spink5 serine peptidase inhibitor Kazal type 5 gene DOID:0050474 Netherton syndrome ISO RGD:1315213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome PMID:10835624|PMID:11511292|PMID:11544479|PMID:11841556|PMID:12752122|PMID:12923596|PMID:15304086|PMID:15656819|PMID:16199547|PMID:16601670|PMID:16628198|PMID:17415575|PMID:17576681|PMID:18577046|PMID:19683336|PMID:20107740|PMID:21255986|PMID:21564178|PMID:22089833|PMID:22377713|PMID:23331056|PMID:24015757|PMID:24033266|PMID:25640679|PMID:25665175|PMID:25710899|PMID:25741868|PMID:25819062|PMID:26031502|PMID:26193622|PMID:26229701|PMID:26865388|PMID:27905021|PMID:27988933|PMID:28289593|PMID:28492532|PMID:28832562|PMID:28832989|PMID:28943498|PMID:29444371|PMID:29926005|PMID:30293248|PMID:30477583|PMID:31953843|PMID:32441320|PMID:32459284|PMID:32573669|PMID:32709676|PMID:33452875|PMID:34604321|PMID:36169939|PMID:9536098 8757371 Spink5 serine peptidase inhibitor Kazal type 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315213 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8757371 Spink5 serine peptidase inhibitor Kazal type 5 gene DOID:10754 otitis media ISO RGD:1315213 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to nonsyndromic otitis media PMID:11511292|PMID:25741868|PMID:26865388|PMID:28492532|PMID:32709676 8757371 Spink5 serine peptidase inhibitor Kazal type 5 gene DOID:630 genetic disease ISO RGD:1315213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8757371 Spink5 serine peptidase inhibitor Kazal type 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8757371 Spink5 serine peptidase inhibitor Kazal type 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8757371 Spink5 serine peptidase inhibitor Kazal type 5 gene DOID:9006215 Exfoliative Dermatitis ISO RGD:1315213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythroderma PMID:15304086|PMID:19683336|PMID:21255986|PMID:22089833|PMID:22377713|PMID:25665175|PMID:25741868|PMID:26229701|PMID:28289593|PMID:28492532 8757371 Spink5 serine peptidase inhibitor Kazal type 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315213 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8757403 Igfbpl1 insulin like growth factor binding protein like 1 gene DOID:630 genetic disease ISO RGD:1313812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757417 Dnali1 dynein axonemal light intermediate chain 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8757417 Dnali1 dynein axonemal light intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1319504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757417 Dnali1 dynein axonemal light intermediate chain 1 gene DOID:9002373 Spermatogenic Failure 83 ISO RGD:1319504 D RGD:7240710 20230505 OMIM 8757417 Dnali1 dynein axonemal light intermediate chain 1 gene DOID:9002373 Spermatogenic Failure 83 ISO RGD:1319504 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 83 PMID:36792588 8757439 Iqub IQ motif and ubiquitin domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8757439 Iqub IQ motif and ubiquitin domain containing gene DOID:630 genetic disease ISO RGD:1606694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757456 Frmd6 FERM domain containing 6 gene DOID:630 genetic disease ISO RGD:1347019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757478 Miga2 mitoguardin 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8757478 Miga2 mitoguardin 2 gene DOID:630 genetic disease ISO RGD:1322047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757524 Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:0060544 Hermansky-Pudlak syndrome 6 ISO RGD:1347712 D RGD:7240710 20180130 OMIM 8757524 Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:0060544 Hermansky-Pudlak syndrome 6 ISO RGD:1347712 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 PMID:12548288|PMID:17041891|PMID:19843503|PMID:20158590|PMID:24033266|PMID:25741868|PMID:25949529|PMID:27225848|PMID:27593200|PMID:28492532|PMID:29054114|PMID:29345414|PMID:30369044|PMID:30387913|PMID:31064749|PMID:31898847|PMID:32581362|PMID:32725903|PMID:32830442|PMID:33878481|PMID:35054407 8757524 Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:2213 hemorrhagic disease ISO RGD:1347712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 8757524 Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:2223 platelet storage pool deficiency ISO RGD:1347712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Storage pool disease of platelets PMID:25741868|PMID:28492532|PMID:31064749 8757524 Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1347712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12548288|PMID:17041891|PMID:19843503|PMID:24033266|PMID:25741868|PMID:26575419|PMID:27225848|PMID:28492532|PMID:29345414|PMID:31064749|PMID:35054407 8757524 Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 gene DOID:630 genetic disease ISO RGD:1347712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:0090060 Wolcott-Rallison syndrome ISO RGD:1354090 D RGD:7240710 20180130 OMIM 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:0090060 Wolcott-Rallison syndrome ISO RGD:1354090 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Wolcott-Rallison dysplasia PMID:10932183|PMID:11997520|PMID:12960215|PMID:16813601|PMID:19837917|PMID:23771172|PMID:24411943|PMID:25741868|PMID:26380986|PMID:26860746|PMID:28492532|PMID:28843469|PMID:31183082|PMID:31264968|PMID:34426871|PMID:7551159 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:1824 status epilepticus ISO RGD:1354090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16492139 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:1838 Menkes disease ISO RGD:1354090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:25741868 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:70884 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:630 genetic disease ISO RGD:1354090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:65 connective tissue disease ISO RGD:1354090 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:678 progressive supranuclear palsy ISO RGD:1354090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685912 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1354090 D RGD:9068941 20200702 RGD protein:hypophosphorylation:liver: PMID:26234401|REF_RGD_ID:32716425 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:736260 D RGD:9068941 20230525 RGD PMID:34144219|REF_RGD_ID:329812011 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:70884 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:15936177|REF_RGD_ID:1581062 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:1354090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19041636 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:70884 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1354090 D RGD:9068941 20200702 RGD PMID:26234401|REF_RGD_ID:32716425 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9351 diabetes mellitus ISO RGD:1354090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9452 steatotic liver disease treatment ISO RGD:736260 D RGD:9068941 20231019 RGD PMID:27813192|REF_RGD_ID:401842386 8757531 Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1354090 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15483661|REF_RGD_ID:1601017 8757551 Mmgt1 membrane magnesium transporter 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8757551 Mmgt1 membrane magnesium transporter 1 gene DOID:12849 autistic disorder ISO RGD:1343591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8757551 Mmgt1 membrane magnesium transporter 1 gene DOID:630 genetic disease ISO RGD:1343591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757567 R3hcc1 R3H domain and coiled-coil containing 1 gene DOID:630 genetic disease ISO RGD:1603166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757567 R3hcc1 R3H domain and coiled-coil containing 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1603166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8757580 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8757580 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1343163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 8757580 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 ISO RGD:1343163 D RGD:7240710 20180130 OMIM 8757580 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 ISO RGD:1343163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 PMID:16199547|PMID:17576681|PMID:23297365|PMID:25741868|PMID:26801680|PMID:27388934|PMID:28106320|PMID:28492532|PMID:32504000|PMID:34387338|PMID:9536098 8757580 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 8757580 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:12849 autistic disorder ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8757580 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:630 genetic disease ISO RGD:1343163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23297365|PMID:25741868|PMID:26801680|PMID:27388934|PMID:28106320|PMID:28492532|PMID:32504000|PMID:34387338 8757580 Pdk3 pyruvate dehydrogenase kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8757612 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1354203 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8757612 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:12712 nephronophthisis ISO RGD:1354203 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 8757612 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:1826 epilepsy ISO RGD:1354203 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8757612 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:630 genetic disease ISO RGD:1354203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757612 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:25741868 8757645 Cgref1 cell growth regulator with EF-hand domain 1 gene DOID:0111680 essential fructosuria ISO RGD:1353373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential fructosuria PMID:28492532 8757645 Cgref1 cell growth regulator with EF-hand domain 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8757645 Cgref1 cell growth regulator with EF-hand domain 1 gene DOID:630 genetic disease ISO RGD:1353373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757645 Cgref1 cell growth regulator with EF-hand domain 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1353373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8757659 Flcn folliculin gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1604509 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:12204536|PMID:12471204|PMID:15852235|PMID:16199547|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23757202|PMID:23784378|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28839995|PMID:29357828|PMID:29548312|PMID:30360018|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35578266|PMID:35639097|PMID:35946080 8757659 Flcn folliculin gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1604509 D RGD:7240710 20180130 OMIM 8757659 Flcn folliculin gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1604509 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Birt Hogg Dubé syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome | ClinVar Annotator: match by term: Hornstein-Knickenberg syndrome PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19801896|PMID:19802896|PMID:19850877|PMID:20188345|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21412933|PMID:21506000|PMID:21520333|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22382802|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23052100|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23414156|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24297131|PMID:24346394|PMID:24393238|PMID:24728327|PMID:24910976|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25807935|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26342594|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26689913|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28031834|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28724667|PMID:28785590|PMID:28805452|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29720200|PMID:30190612|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:30923304|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:33927747|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36410626|PMID:9536098 8757659 Flcn folliculin gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1604509 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) PMID:12204536|PMID:12471204|PMID:15852235|PMID:16199547|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23757202|PMID:23784378|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28837307|PMID:28839995|PMID:29357828|PMID:29548312|PMID:30360018|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:34008892|PMID:34229741|PMID:34326862|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35578266|PMID:35639097|PMID:35946080 8757659 Flcn folliculin gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1604509 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex PMID:25741868|PMID:28492532 8757659 Flcn folliculin gene DOID:0080218 primary spontaneous pneumothorax ISO RGD:1604509 D RGD:7240710 20180523 OMIM 8757659 Flcn folliculin gene DOID:0080218 primary spontaneous pneumothorax ISO RGD:1604509 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pneumothorax, primary spontaneous PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:18234728|PMID:18505456|PMID:18579543|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21506000|PMID:21538689|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22703879|PMID:23757202|PMID:23784378|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25126726|PMID:25326637|PMID:25519458|PMID:25525159|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28007907|PMID:28492532|PMID:28839995|PMID:28873162|PMID:29357828|PMID:29548312|PMID:30360018|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35578266|PMID:35639097|PMID:35946080 8757659 Flcn folliculin gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8757659 Flcn folliculin gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604509 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8757659 Flcn folliculin gene DOID:12849 autistic disorder ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8757659 Flcn folliculin gene DOID:1520 colon carcinoma ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:12843323|PMID:15805188|PMID:15852235|PMID:16199547|PMID:18234728|PMID:19457309|PMID:19802896|PMID:20618353|PMID:21937013|PMID:22703879|PMID:23050938|PMID:24033266|PMID:24393238|PMID:24728327|PMID:25594584|PMID:25741868|PMID:28492532|PMID:28558743 8757659 Flcn folliculin gene DOID:1520 colon carcinoma ISO RGD:1604509 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:12843323|PMID:15805188|PMID:15852235|PMID:16199547|PMID:18234728|PMID:19116017|PMID:19457309|PMID:19562744|PMID:20618353|PMID:21937013|PMID:22703879|PMID:23050938|PMID:24033266|PMID:24393238|PMID:24728327|PMID:25594584|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28558743|PMID:35176117 8757659 Flcn folliculin gene DOID:1520 colon carcinoma ISO RGD:1604509 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:12843323|PMID:19116017|PMID:19562744|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 8757659 Flcn folliculin gene DOID:1673 pneumothorax ISO RGD:1604509 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spontaneous pneumothorax PMID:25741868|PMID:26467025|PMID:28492532 8757659 Flcn folliculin gene DOID:2394 ovarian cancer ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532|PMID:30548481 8757659 Flcn folliculin gene DOID:4450 renal cell carcinoma ISO RGD:1604509 D RGD:7240710 20180130 OMIM 8757659 Flcn folliculin gene DOID:4450 renal cell carcinoma treatment ISO RGD:735088 D RGD:9068941 20200609 RGD PMID:16369488|REF_RGD_ID:13605606 8757659 Flcn folliculin gene DOID:4851 pilocytic astrocytoma ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:15852235|PMID:16199547|PMID:25741868|PMID:28492532 8757659 Flcn folliculin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8757659 Flcn folliculin gene DOID:6245 renal oncocytoma ISO RGD:1604509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12204536 8757659 Flcn folliculin gene DOID:630 genetic disease ISO RGD:1604509 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8757659 Flcn folliculin gene DOID:687 hepatoblastoma ISO RGD:1604509 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:26467025|PMID:28492532|PMID:35495172 8757659 Flcn folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25126726|PMID:25326637|PMID:25519458|PMID:25594584|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:28007907|PMID:28151982|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28891800|PMID:28944238|PMID:28970150|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30580288|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:9536098 8757659 Flcn folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:28007907|PMID:28151982|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28873162|PMID:28891800|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:35495172|PMID:35691222|PMID:9536098 8757659 Flcn folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:35477461|PMID:35495172|PMID:35691222|PMID:9536098 8757659 Flcn folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36410626|PMID:9536098 8757659 Flcn folliculin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604509 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36410626|PMID:9536098 8757659 Flcn folliculin gene DOID:9007188 Liver Neoplasms ISO RGD:1604509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8757659 Flcn folliculin gene DOID:9007253 Hamartoma ISO RGD:1604509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12204536|PMID:27072130 8757659 Flcn folliculin gene DOID:9007583 Cysts ISO RGD:1604509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27072130 8757659 Flcn folliculin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604509 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8757659 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:7240710 20200226 OMIM 8757659 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:29357828|PMID:29548312|PMID:30360018|PMID:34008892 8757659 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:33137092|PMID:34008892|PMID:34067022 8757659 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:33137092|PMID:34008892|PMID:34067022 8757659 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18794106|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22703879|PMID:22977732|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:34067022|PMID:35691222|PMID:9536098 8757659 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18794106|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22703879|PMID:22977732|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:34067022|PMID:35691222|PMID:9536098 8757659 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22977732|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:9536098 8757659 Flcn folliculin gene DOID:9256 colorectal cancer ISO RGD:1604509 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12204536|PMID:12471204|PMID:15852235|PMID:16199547|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23757202|PMID:23784378|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28839995|PMID:29357828|PMID:29548312|PMID:30360018|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35578266|PMID:35639097|PMID:35946080 8757681 Kansl3 KAT8 regulatory NSL complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1604339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8757681 Kansl3 KAT8 regulatory NSL complex subunit 3 gene DOID:5419 schizophrenia ISO RGD:1604339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8757681 Kansl3 KAT8 regulatory NSL complex subunit 3 gene DOID:630 genetic disease ISO RGD:1604339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:68438 D RGD:9068941 20231026 RGD mRNA:decreased expression:ventral tegmental area PMID:29678771|REF_RGD_ID:401851055 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:68657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11027224 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:68657 D RGD:9068941 20231012 RGD mRNA:increased expression:blood PMID:30519864|REF_RGD_ID:401831039 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:11206 opioid abuse ISO RGD:1550574 D RGD:9068941 20231111 RGD mRNA:increased expression:ventral striatum PMID:30059705|REF_RGD_ID:401900306 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:68438 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:15862535|REF_RGD_ID:9835022 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:1574 alcohol use disorder ISO RGD:68438 D RGD:9068941 20200609 RGD PMID:11814626|REF_RGD_ID:9835016 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:2560 morphine dependence ISO RGD:68657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11027224 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:630 genetic disease ISO RGD:68657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:68657 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16995444 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:9000831 Hypokinesia ISO RGD:68657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20950413 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:9001109 Anorexia treatment ISO RGD:68438 D RGD:9068941 20200609 RGD PMID:11981590|REF_RGD_ID:9835031 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:68438 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus: PMID:11931711|REF_RGD_ID:9835019 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:68438 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy;mRNA:increased expression:spinal cord lumbar segment,dorsal root ganglion: PMID:12106803|REF_RGD_ID:9835017 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:9002916 Hyperphagia ISO RGD:68438 D RGD:9068941 20200609 RGD PMID:9669488|PMID:9808678|REF_RGD_ID:9831410|REF_RGD_ID:9835033 8757723 Oprl1 opioid related nociceptin receptor 1 gene DOID:9006302 Binge Drinking ISO RGD:68657 D RGD:9068941 20200609 RGD PMID:29197086|REF_RGD_ID:14348965 8757737 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:0060891 Parkinson's disease 19A ISO RGD:1320495 D RGD:7240710 20180130 OMIM 8757737 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:0060891 Parkinson's disease 19A ISO RGD:1320495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A | ClinVar Annotator: match by term: PARK19 | ClinVar Annotator: match by term: Parkinson disease 19B, early-onset PMID:16199547|PMID:17576681|PMID:2256350|PMID:22563501|PMID:23211418|PMID:24220513|PMID:25640679|PMID:25741868|PMID:26528954|PMID:26703368|PMID:28191889|PMID:28492532|PMID:31737044|PMID:32214227|PMID:32472658|PMID:32662538|PMID:33983693|PMID:9536098 8757737 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:10283 prostate cancer ISO RGD:1320495 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:22563501|PMID:23211418|PMID:26528954|PMID:28492532 8757737 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:1059 intellectual disability ISO RGD:1320495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8757737 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:14330 Parkinson's disease ISO RGD:1320495 D RGD:9068941 20200609 RGD PMID:25639775|REF_RGD_ID:10450521 8757737 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:630 genetic disease ISO RGD:1320495 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26528954|PMID:28191889|PMID:28492532|PMID:31737044 8757737 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:684 hepatocellular carcinoma ISO RGD:1320495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8757737 Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1320495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PMID:2256350|PMID:22563501|PMID:24220513|PMID:32214227|PMID:33983693 8757763 Plxnb1 plexin B1 gene DOID:630 genetic disease ISO RGD:1321541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8757763 Plxnb1 plexin B1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1321541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8757763 Plxnb1 plexin B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8757811 Oit3 oncoprotein induced transcript 3 gene DOID:10283 prostate cancer ISO RGD:1345970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8757811 Oit3 oncoprotein induced transcript 3 gene DOID:630 genetic disease ISO RGD:1345970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757811 Oit3 oncoprotein induced transcript 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8757824 Rab15 RAB15, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1351715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757838 Rbbp6 RB binding protein 6, ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1323690 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8757861 Tstd3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:0081169 Leber congenital amaurosis 19 ISO RGD:6769372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 19 PMID:25741868|PMID:30573563 8757861 Tstd3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:630 genetic disease ISO RGD:6769372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757861 Tstd3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:6769372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8757861 Tstd3 thiosulfate sulfurtransferase like domain containing 3 gene DOID:9007661 Dwarfism ISO RGD:6769372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8757869 Nrxn1 neurexin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8757869 Nrxn1 neurexin 1 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:734185 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:28492532|PMID:29924869 8757869 Nrxn1 neurexin 1 gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 3 PMID:28492532 8757869 Nrxn1 neurexin 1 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:734185 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: NRXN1-related condition | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:16199547|PMID:17034946|PMID:17576681|PMID:18179900|PMID:18414213|PMID:18490107|PMID:19896112|PMID:20347009|PMID:20468056|PMID:20848651|PMID:21288692|PMID:21424692|PMID:21681106|PMID:21827697|PMID:21964664|PMID:22405623|PMID:22504536|PMID:22617343|PMID:23207424|PMID:23472757|PMID:23495017|PMID:23533028|PMID:23849776|PMID:24832020|PMID:2504536|PMID:25149956|PMID:25326635|PMID:25408897|PMID:25418537|PMID:25533962|PMID:25614873|PMID:25640679|PMID:25661985|PMID:25741868|PMID:26185613|PMID:26325558|PMID:26350204|PMID:26467025|PMID:26742492|PMID:27195815|PMID:28289584|PMID:28492532|PMID:29221905|PMID:29924869|PMID:30031152|PMID:30564305|PMID:30709877|PMID:32942984|PMID:33004838|PMID:33739554|PMID:36703223|PMID:9536098 8757869 Nrxn1 neurexin 1 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 susceptibility ISO RGD:734185 D RGD:7240710 20240313 OMIM 8757869 Nrxn1 neurexin 1 gene DOID:1059 intellectual disability ISO RGD:734185 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26350204|PMID:26467025|PMID:28492532 8757869 Nrxn1 neurexin 1 gene DOID:12849 autistic disorder ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 8757869 Nrxn1 neurexin 1 gene DOID:224 transient cerebral ischemia ISO RGD:628659 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:decreased expression:cerebral cortex PMID:12437578|REF_RGD_ID:632385 8757869 Nrxn1 neurexin 1 gene DOID:5419 schizophrenia ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8757869 Nrxn1 neurexin 1 gene DOID:630 genetic disease ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17034946|PMID:17576681|PMID:18179900|PMID:18414213|PMID:18490107|PMID:19896112|PMID:20468056|PMID:21288692|PMID:21424692|PMID:21964664|PMID:22405623|PMID:22504536|PMID:22892527|PMID:23495017|PMID:23533028|PMID:23849776|PMID:24064682|PMID:24832020|PMID:25149956|PMID:25418537|PMID:25533962|PMID:25741868|PMID:26350204|PMID:26467025|PMID:28289584|PMID:28492532|PMID:29221905|PMID:29924869|PMID:30031152|PMID:30564305|PMID:32942984|PMID:33004838|PMID:9536098 8757869 Nrxn1 neurexin 1 gene DOID:9001388 CHROMOSOME 2p16.3 DELETION SYNDROME ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chromosome 2p16.3 deletion syndrome PMID:18179900|PMID:18945720|PMID:21681106|PMID:23495017|PMID:25741868|PMID:28492532 8757869 Nrxn1 neurexin 1 gene DOID:9001388 CHROMOSOME 2p16.3 DELETION SYNDROME susceptibility ISO RGD:734185 D RGD:7240710 20240313 OMIM 8757869 Nrxn1 neurexin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8757869 Nrxn1 neurexin 1 gene DOID:9005466 Language Development Disorders ISO RGD:734185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20157312 8757869 Nrxn1 neurexin 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:734185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18057082 8757869 Nrxn1 neurexin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18057082 8757869 Nrxn1 neurexin 1 gene DOID:9009160 SCHIZOPHRENIA 17 ISO RGD:734185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia 17 PMID:21424692 8757869 Nrxn1 neurexin 1 gene DOID:9009160 SCHIZOPHRENIA 17 susceptibility ISO RGD:734185 D RGD:7240710 20240313 OMIM 8757869 Nrxn1 neurexin 1 gene DOID:9970 obesity ISO RGD:734185 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:0050770 polycystic liver disease ISO RGD:1351813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1351813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1351813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1351813 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:1351813 D RGD:7240710 20190315 OMIM 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:1351813 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 PMID:25741868|PMID:27392076|PMID:28492532|PMID:28782633|PMID:33185949 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9007541 Common Variable Immunodeficiency 15 ISO RGD:1351813 D RGD:7240710 20240124 OMIM 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9007541 Common Variable Immunodeficiency 15 ISO RGD:1351813 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 PMID:25741868|PMID:28782633 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9008837 Severe Congenital Neutropenia 11, Autosomal Dominant ISO RGD:1351813 D RGD:7240710 20240124 OMIM 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9008837 Severe Congenital Neutropenia 11, Autosomal Dominant ISO RGD:1351813 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 11, autosomal dominant PMID:32325141 8757906 Sec61a1 SEC61 translocon subunit alpha 1 gene DOID:9270 alkaptonuria ISO RGD:1351813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8757923 Ccdc17 coiled-coil domain containing 17 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8757923 Ccdc17 coiled-coil domain containing 17 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1603565 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs2275085) T>C (human) PMID:27354594|REF_RGD_ID:152177496 8757923 Ccdc17 coiled-coil domain containing 17 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8757923 Ccdc17 coiled-coil domain containing 17 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8757923 Ccdc17 coiled-coil domain containing 17 gene DOID:630 genetic disease ISO RGD:1603565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757948 C3ar1 complement C3a receptor 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8757948 C3ar1 complement C3a receptor 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 8757948 C3ar1 complement C3a receptor 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8757948 C3ar1 complement C3a receptor 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8757948 C3ar1 complement C3a receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1353843 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8757948 C3ar1 complement C3a receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1353843 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8757948 C3ar1 complement C3a receptor 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8757948 C3ar1 complement C3a receptor 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8757948 C3ar1 complement C3a receptor 1 gene DOID:10283 prostate cancer ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8757948 C3ar1 complement C3a receptor 1 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:620537 D RGD:9068941 20200609 RGD PMID:16782534|REF_RGD_ID:2303017 8757948 C3ar1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:620537 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 8757948 C3ar1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:731620 D RGD:9068941 20200609 RGD PMID:20802484|REF_RGD_ID:5129681 8757948 C3ar1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:731620 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20045013|REF_RGD_ID:5129686 8757948 C3ar1 complement C3a receptor 1 gene DOID:2841 asthma ISO RGD:731620 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 8757948 C3ar1 complement C3a receptor 1 gene DOID:2841 asthma severity ISO RGD:1353843 D RGD:9068941 20200609 RGD PMID:15278436|PMID:15940127|REF_RGD_ID:5129512|REF_RGD_ID:5129561 8757948 C3ar1 complement C3a receptor 1 gene DOID:4483 rhinitis severity ISO RGD:1353843 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity PMID:18538384|REF_RGD_ID:5129559 8757948 C3ar1 complement C3a receptor 1 gene DOID:552 pneumonia ISO RGD:731620 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:17079327|REF_RGD_ID:5129688 8757948 C3ar1 complement C3a receptor 1 gene DOID:630 genetic disease ISO RGD:1353843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8757948 C3ar1 complement C3a receptor 1 gene DOID:850 lung disease ISO RGD:620537 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 8757948 C3ar1 complement C3a receptor 1 gene DOID:850 lung disease ISO RGD:731620 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:21421909|REF_RGD_ID:5129564 8757948 C3ar1 complement C3a receptor 1 gene DOID:850 lung disease ISO RGD:731620 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 8757948 C3ar1 complement C3a receptor 1 gene DOID:874 bacterial pneumonia ISO RGD:731620 D RGD:9068941 20200609 RGD PMID:16461429|REF_RGD_ID:5129690 8757948 C3ar1 complement C3a receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620537 D RGD:9068941 20200609 RGD PMID:15159277|REF_RGD_ID:5129702 8757948 C3ar1 complement C3a receptor 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8757948 C3ar1 complement C3a receptor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:731620 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 8757966 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8757966 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8757966 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8757966 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8757966 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0081097 Rafiq syndrome ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8757966 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1319275 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8757966 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0111482 combined oxidative phosphorylation deficiency 36 ISO RGD:1319275 D RGD:7240710 20190315 OMIM 8757966 Mrps2 mitochondrial ribosomal protein S2 gene DOID:0111482 combined oxidative phosphorylation deficiency 36 ISO RGD:1319275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 PMID:25741868|PMID:28492532|PMID:29576219 8757966 Mrps2 mitochondrial ribosomal protein S2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8757966 Mrps2 mitochondrial ribosomal protein S2 gene DOID:3652 Leigh disease ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8757966 Mrps2 mitochondrial ribosomal protein S2 gene DOID:630 genetic disease ISO RGD:1319275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8757966 Mrps2 mitochondrial ribosomal protein S2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8757974 Atad2 ATPase family AAA domain containing 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1312522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8757974 Atad2 ATPase family AAA domain containing 2 gene DOID:630 genetic disease ISO RGD:1312522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758011 Clasrp CLK4 associating serine/arginine rich protein gene DOID:630 genetic disease ISO RGD:1347770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758048 Aadacl2 arylacetamide deacetylase like 2 gene DOID:630 genetic disease ISO RGD:1606396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:0080011 bone resorption disease ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15845617|PMID:18496637|PMID:23333834 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:0080162 lupus nephritis ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;protein:increased expression:urine PMID:21691937|REF_RGD_ID:7205483 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:0081368 Paget's disease of bone 5 ISO RGD:730969 D RGD:7240710 20180214 OMIM 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:0081368 Paget's disease of bone 5 ISO RGD:730969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease PMID:106682|PMID:12124406|PMID:12189164|PMID:14672344|PMID:19436932|PMID:23837846|PMID:25108083|PMID:25741868|PMID:26762549|PMID:28492532 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:0111582 hereditary arterial and articular multiple calcification syndrome ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:22386825|REF_RGD_ID:7205494 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21659498|REF_RGD_ID:7205513 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:10763 hypertension severity ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22050177|REF_RGD_ID:7205512 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:11476 osteoporosis ISO RGD:11035 D RGD:9068941 20220825 MouseDO OMIM:166710 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:11476 osteoporosis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17667143 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:1184 nephrotic syndrome ISO RGD:730969 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22989431|REF_RGD_ID:7205481 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:22156488|REF_RGD_ID:7205487 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:12678 hypercalcemia ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15845617 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:13001 carotid stenosis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:730969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:1712 aortic valve stenosis ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20211333|REF_RGD_ID:7205491 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:206 hereditary multiple exostoses ISO RGD:730969 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:3312 bipolar disorder ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20861651|REF_RGD_ID:7205488 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:3393 coronary artery disease ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15926884|REF_RGD_ID:1620893 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:3407 carotid artery disease disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15117849|REF_RGD_ID:1624168 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:341 peripheral vascular disease severity ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115489|REF_RGD_ID:1624125 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:3526 cerebral infarction disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD PMID:19895657|REF_RGD_ID:7205492 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:4248 coronary stenosis ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15569000|REF_RGD_ID:1624167 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:4676 uremia ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:5199 ureteral obstruction ISO RGD:11035 D RGD:9068941 20200609 RGD mRNA:increased expression:tibia PMID:22943310|REF_RGD_ID:7205482 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:5408 Paget's disease of bone susceptibility ISO RGD:730969 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:12189164|REF_RGD_ID:1620794 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:5419 schizophrenia ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20861651|REF_RGD_ID:7205488 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:5844 myocardial infarction ISO RGD:730969 D RGD:9068941 20200609 RGD PMID:15926884|REF_RGD_ID:1620893 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:6000 congestive heart failure ISO RGD:619802 D RGD:9068941 20200609 RGD mRNA, protein:incereased expression:myocardium PMID:15883214|REF_RGD_ID:1624176 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:630 genetic disease ISO RGD:730969 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:65 connective tissue disease ISO RGD:730969 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:7148 rheumatoid arthritis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23333834 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:783 end stage renal disease severity ISO RGD:730969 D RGD:9068941 20200609 RGD PMID:21479768|REF_RGD_ID:7205485 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:820 myocarditis ISO RGD:619802 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium PMID:18417124|REF_RGD_ID:2302361 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:823 periapical periodontitis treatment ISO RGD:619802 D RGD:9068941 20210226 RGD Lactobacillus acidophilus PMID:32436602|REF_RGD_ID:42721981 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:8398 osteoarthritis disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:619802 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9000965 Neoplasm Metastasis ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:serum PMID:23167338|REF_RGD_ID:7205479 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9001547 Tibial Fractures ISO RGD:619802 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18592139|REF_RGD_ID:2302324 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:18719882|REF_RGD_ID:7205493 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:20727867|REF_RGD_ID:7205514 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9002211 Hyperalgesia ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16769263 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9002457 Experimental Arthritis ISO RGD:619802 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone PMID:16696922|REF_RGD_ID:1624171 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9002457 Experimental Arthritis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23333834 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9002457 Experimental Arthritis treatment ISO RGD:619802 D RGD:9068941 20210226 RGD Sinomenine CHEBI:9163 PMID:24066131|REF_RGD_ID:42721982 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9002699 Periapical Diseases ISO RGD:619802 D RGD:9068941 20200609 RGD PMID:21793936|REF_RGD_ID:7205516 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9005372 Inflammation ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23333834 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9006081 Osteolysis ISO RGD:730969 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12548581 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9007096 Stroke ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17258300|REF_RGD_ID:1620776 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9007692 Insulin Resistance ISO RGD:730969 D RGD:9068941 20200609 RGD associated with obesity;protein:increased expression:serum PMID:15936463|REF_RGD_ID:1620889 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9008778 Coronary Artery Calcification severity ISO RGD:730969 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:22943310|REF_RGD_ID:7205482 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9008887 Microvascular Angina ISO RGD:730969 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15648548|REF_RGD_ID:1620974 8758056 Tnfrsf11b TNF receptor superfamily member 11b gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:730969 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22050177|REF_RGD_ID:7205512 8758065 Diaph3 diaphanous related formin 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1350370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8758065 Diaph3 diaphanous related formin 3 gene DOID:0060690 autosomal dominant auditory neuropathy 1 ISO RGD:1350370 D RGD:7240710 20180130 OMIM 8758065 Diaph3 diaphanous related formin 3 gene DOID:0060690 autosomal dominant auditory neuropathy 1 ISO RGD:1350370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 PMID:20624953|PMID:25741868|PMID:27658576|PMID:28492532 8758065 Diaph3 diaphanous related formin 3 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1314906 D RGD:9068941 20220825 MouseDO 8758065 Diaph3 diaphanous related formin 3 gene DOID:630 genetic disease ISO RGD:1350370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30311386 8758065 Diaph3 diaphanous related formin 3 gene DOID:9004538 Hearing Loss ISO RGD:1350370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 8758096 Chchd3 coiled-coil-helix-coiled-coil-helix domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1321163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8758096 Chchd3 coiled-coil-helix-coiled-coil-helix domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8758096 Chchd3 coiled-coil-helix-coiled-coil-helix domain containing 3 gene DOID:630 genetic disease ISO RGD:1321163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758111 Mgat4a alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene DOID:0080600 COVID-19 ISO RGD:1313803 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8758111 Mgat4a alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene DOID:1793 pancreatic cancer ISO RGD:1313803 D RGD:9068941 20200609 RGD PMID:16434023|REF_RGD_ID:2317701 8758111 Mgat4a alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A gene DOID:630 genetic disease ISO RGD:1313803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758135 C1qc complement C1q C chain gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1315664 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8758135 C1qc complement C1q C chain gene DOID:0060369 Parkinson's disease 6 ISO RGD:1315664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8758135 C1qc complement C1q C chain gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1315664 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35789393 8758135 C1qc complement C1q C chain gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1315664 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8758135 C1qc complement C1q C chain gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1315664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8758135 C1qc complement C1q C chain gene DOID:0080600 COVID-19 ISO RGD:1315664 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8758135 C1qc complement C1q C chain gene DOID:1883 hepatitis C ISO RGD:1315664 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35789393 8758135 C1qc complement C1q C chain gene DOID:630 genetic disease ISO RGD:1315664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8758135 C1qc complement C1q C chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8758135 C1qc complement C1q C chain gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1315664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8758135 C1qc complement C1q C chain gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1315664 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35789393 8758135 C1qc complement C1q C chain gene DOID:9007516 C1q Deficiency ISO RGD:1315664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: C1Q deficiency PMID:20635792|PMID:21654842|PMID:24157463|PMID:25741868|PMID:28082982|PMID:28492532|PMID:30008451|PMID:31357913|PMID:7029321|PMID:7900940|PMID:8630118 8758135 C1qc complement C1q C chain gene DOID:9007652 C1q Deficiency 3 ISO RGD:1315664 D RGD:7240710 20230505 OMIM 8758135 C1qc complement C1q C chain gene DOID:9007652 C1q Deficiency 3 ISO RGD:1315664 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: C1q deficiency 3 PMID:24157463|PMID:28492532|PMID:7029321|PMID:8630118 8758135 C1qc complement C1q C chain gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1315664 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050823 third-degree atrioventricular block ISO RGD:1606790 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1606790 D RGD:9068941 20210910 RGD protein:decreased expression:oral epithelium (human) PMID:24122999|REF_RGD_ID:150429611 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606790 D RGD:7240710 20180130 OMIM 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606790 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: TET2-related condition PMID:24728327|PMID:25741868|PMID:28492532 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1606790 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:23099237|REF_RGD_ID:10450876 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0050912 colon adenoma ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:colon (human) PMID:29875879|REF_RGD_ID:150429665 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1606790 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Clonal hematopoiesis PMID:25741868|PMID:33057201|PMID:35714308 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0060597 atypical chronic myeloid leukemia ISO RGD:1606790 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative PMID:22905207|PMID:28492532 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0080188 chronic myelomonocytic leukemia ISO RGD:1606790 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations, splice-site mutations:multiple PMID:20693430|REF_RGD_ID:11038679 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:0111147 angioimmunoblastic T-cell lymphoma ISO RGD:1606790 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Angioimmunoblastic T-cell lymphoma PMID:19797729|PMID:27210295|PMID:27276561|PMID:28337768|PMID:28492532|PMID:32518946 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1606790 D RGD:9068941 20210910 RGD mRNA, protein:decreased expression:stomach (human) PMID:27027260|REF_RGD_ID:150429612 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1606790 D RGD:9068941 20210917 RGD associated with Neoplasm Metastasis; human cells in mouse model PMID:31242038|REF_RGD_ID:150429653 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer severity ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:stomach (human) PMID:31242038|REF_RGD_ID:150429653 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:10534 stomach cancer treatment ISO RGD:1606790 D RGD:9068941 20210917 RGD human cells in mouse model PMID:33058920|REF_RGD_ID:150429654 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:1612 breast cancer ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:increased expression: Blood, peripheral blood mononuclear cells (human) PMID:30713804|REF_RGD_ID:150429690 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1606790 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:2154 nephroblastoma ISO RGD:1606790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:26822237 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1606790 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.R686S (c.2058A>T), p.L1340P (c.4019T>C), p.H1868R (c.5603A>G) (human) PMID:19564637|REF_RGD_ID:11038680 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:234 colon adenocarcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:increased expression:colorectum, Cancer Stem-like Cells (human) PMID:31057717|REF_RGD_ID:150429686 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human) PMID:27050164|REF_RGD_ID:150429668 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:esophagus squamous epithelium (human) PMID:26093090|REF_RGD_ID:11528815 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1606790 D RGD:9068941 20210917 RGD DNA:mutations PMID:26873401|REF_RGD_ID:150429656 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD DNA:mutations:multiple PMID:32554069|REF_RGD_ID:150429694 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:630 genetic disease ISO RGD:1606790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:liver (human) PMID:26366235|REF_RGD_ID:150429684 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1606790 D RGD:9068941 20210910 RGD human cells in mouse model PMID:29331390|PMID:33097695|REF_RGD_ID:150429595|REF_RGD_ID:150429597 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:liver (human) PMID:30070373|REF_RGD_ID:150429689 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA, protein:decreased expression:liver (human) PMID:33097695|REF_RGD_ID:150429597 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA, protein:increased expression:liver (human) PMID:29331390|REF_RGD_ID:150429595 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:8541 Sezary's disease ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606790 D RGD:9068941 20210910 RGD associated with colorectal cancer; protein:decreased expression:colorectum (human) PMID:33552282|REF_RGD_ID:150429609 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23593118 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9004473 Monocytosis ISO RGD:1323180 D RGD:9068941 20200609 RGD PMID:24218139|REF_RGD_ID:11038772 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9004835 Immunodeficiency 75 ISO RGD:1606790 D RGD:7240710 20210113 OMIM 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9004835 Immunodeficiency 75 ISO RGD:1606790 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Immunodeficiency 75 PMID:20061559|PMID:24315485|PMID:24728327|PMID:25741868|PMID:27210295|PMID:27834397|PMID:28337768|PMID:28492532|PMID:30890702|PMID:31827242|PMID:32518946 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:1606790 D RGD:9068941 20200609 RGD PMID:25200248|REF_RGD_ID:11038682 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1606790 D RGD:9068941 20200609 RGD DNA:deletions PMID:23389918|REF_RGD_ID:11038681 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606790 D RGD:9068941 20200609 RGD PMID:25200248|REF_RGD_ID:11038682 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:9068941 20210910 RGD associated with Neoplasm Metastasis; mRNA:decreased expression:colorectum (human) PMID:26816554|REF_RGD_ID:150429613 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA, protein:increased expression:colorectum, CD4 positive T cells (human) PMID:30013992|REF_RGD_ID:150429655 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:decreased expression:colon (human) PMID:29875879|REF_RGD_ID:150429665 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9256 colorectal cancer ISO RGD:1606790 D RGD:9068941 20210917 RGD mRNA:increased expression: Blood, peripheral blood mononuclear cells (human) PMID:30713804|REF_RGD_ID:150429690 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:1606790 D RGD:9068941 20210910 RGD human cells in mouse model PMID:32774157|REF_RGD_ID:150429610 8758145 Tet2 tet methylcytosine dioxygenase 2 gene DOID:9538 multiple myeloma ISO RGD:1606790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8758162 Ebi3 Epstein-Barr virus induced 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353395 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8758162 Ebi3 Epstein-Barr virus induced 3 gene DOID:10591 pre-eclampsia ameliorates ISO RGD:1589467 D RGD:9068941 20230323 RGD PMID:31203154|REF_RGD_ID:213230155 8758162 Ebi3 Epstein-Barr virus induced 3 gene DOID:13938 amenorrhea ISO RGD:1353395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8758162 Ebi3 Epstein-Barr virus induced 3 gene DOID:2841 asthma ISO RGD:1615927 D RGD:9068941 20200609 RGD PMID:21255010|REF_RGD_ID:5128488 8758162 Ebi3 Epstein-Barr virus induced 3 gene DOID:630 genetic disease ISO RGD:1353395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758162 Ebi3 Epstein-Barr virus induced 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8758181 Rusc2 RUN and SH3 domain containing 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8758181 Rusc2 RUN and SH3 domain containing 2 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8758181 Rusc2 RUN and SH3 domain containing 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1351272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8758181 Rusc2 RUN and SH3 domain containing 2 gene DOID:0080239 autosomal recessive intellectual developmental disorder 61 ISO RGD:1351272 D RGD:7240710 20190315 OMIM 8758181 Rusc2 RUN and SH3 domain containing 2 gene DOID:0080239 autosomal recessive intellectual developmental disorder 61 ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALWADEI SYNDROME | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 61 PMID:25741868|PMID:27612186|PMID:28492532 8758181 Rusc2 RUN and SH3 domain containing 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8758181 Rusc2 RUN and SH3 domain containing 2 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1351272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8758181 Rusc2 RUN and SH3 domain containing 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8758181 Rusc2 RUN and SH3 domain containing 2 gene DOID:630 genetic disease ISO RGD:1351272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8758181 Rusc2 RUN and SH3 domain containing 2 gene DOID:9000702 Stuve-Wiedemann Syndrome 2 ISO RGD:1351272 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 PMID:25741868|PMID:28492532 8758181 Rusc2 RUN and SH3 domain containing 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351272 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8758181 Rusc2 RUN and SH3 domain containing 2 gene DOID:9870 galactosemia ISO RGD:1351272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8758203 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8758203 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346850 D RGD:7240710 20180130 OMIM 8758203 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia 1 PMID:10612827|PMID:15262732|PMID:15496428|PMID:15824259|PMID:16199547|PMID:16216955|PMID:16632198|PMID:17576681|PMID:19124534|PMID:20301400|PMID:21487022|PMID:22967746|PMID:24033266|PMID:25107857|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28893297|PMID:8659518|PMID:9490305|PMID:9536098 8758203 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8758203 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:4450 renal cell carcinoma ISO RGD:1346850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 8758203 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8758203 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:543 dystonia ISO RGD:1346850 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Paroxysmal dystonia PMID:15262732|PMID:15496428|PMID:15824259|PMID:16216955|PMID:20301400|PMID:25741868|PMID:28492532|PMID:8659518|PMID:9490305 8758203 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:630 genetic disease ISO RGD:1346850 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10612827|PMID:28492532 8758203 Pnkd PNKD metallo-beta-lactamase domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8758232 Acyp1 acylphosphatase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351089 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:23352160|PMID:23773996|PMID:24386122|PMID:24767253|PMID:25741868|PMID:25764212|PMID:26981555|PMID:27792009|PMID:28492532|PMID:29431110|PMID:29928259|PMID:30060175|PMID:30548430|PMID:33848968|PMID:34420959|PMID:36140389|PMID:36199823 8758232 Acyp1 acylphosphatase 1 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1351089 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:12955717|PMID:15937921|PMID:23352160|PMID:23773996|PMID:24386122|PMID:24767253|PMID:25558065|PMID:25741868|PMID:25764212|PMID:26981555|PMID:27792009|PMID:28492532|PMID:29431110|PMID:29928259|PMID:30060175|PMID:30548430|PMID:33848968|PMID:34420959|PMID:36140389|PMID:36199823 8758232 Acyp1 acylphosphatase 1 gene DOID:1059 intellectual disability ISO RGD:1351089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8758232 Acyp1 acylphosphatase 1 gene DOID:630 genetic disease ISO RGD:1351089 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758232 Acyp1 acylphosphatase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12955717|PMID:15937921|PMID:25558065|PMID:25741868|PMID:25764212|PMID:28492532 8758239 Slc38a6 solute carrier family 38 member 6 gene DOID:630 genetic disease ISO RGD:1321172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758264 Chtop chromatin target of PRMT1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8758264 Chtop chromatin target of PRMT1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8758264 Chtop chromatin target of PRMT1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8758264 Chtop chromatin target of PRMT1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8758264 Chtop chromatin target of PRMT1 gene DOID:5812 MHC class II deficiency ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8758264 Chtop chromatin target of PRMT1 gene DOID:630 genetic disease ISO RGD:1607051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758264 Chtop chromatin target of PRMT1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8758286 Ern2 endoplasmic reticulum to nucleus signaling 2 gene DOID:630 genetic disease ISO RGD:1346348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758313 Prkcb protein kinase C beta gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8758313 Prkcb protein kinase C beta gene DOID:10003 sensorineural hearing loss ISO RGD:731404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27329761 8758313 Prkcb protein kinase C beta gene DOID:10325 silicosis ISO RGD:3396 D RGD:9068941 20200609 RGD protein:increased activation:alveolar macrophage PMID:14680365|REF_RGD_ID:1625527 8758313 Prkcb protein kinase C beta gene DOID:10652 Alzheimer's disease ISO RGD:731404 D RGD:9068941 20200609 RGD PMID:8534418|REF_RGD_ID:13825140 8758313 Prkcb protein kinase C beta gene DOID:10763 hypertension ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:15804434|REF_RGD_ID:1625513 8758313 Prkcb protein kinase C beta gene DOID:12849 autistic disorder ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027742 8758313 Prkcb protein kinase C beta gene DOID:12930 dilated cardiomyopathy ISO RGD:731404 D RGD:9068941 20200609 RGD PMID:9918525|REF_RGD_ID:1581274 8758313 Prkcb protein kinase C beta gene DOID:1824 status epilepticus ISO RGD:3396 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15058486|REF_RGD_ID:1625525 8758313 Prkcb protein kinase C beta gene DOID:2914 immune system disease ISO RGD:1550017 D RGD:9068941 20200609 RGD PMID:12118249|REF_RGD_ID:737729 8758313 Prkcb protein kinase C beta gene DOID:3908 lung non-small cell carcinoma ISO RGD:731404 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:lung PMID:28422739|REF_RGD_ID:13503321 8758313 Prkcb protein kinase C beta gene DOID:4195 hyperglycemia ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:15616014|REF_RGD_ID:1625514 8758313 Prkcb protein kinase C beta gene DOID:4195 hyperglycemia ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17443133 8758313 Prkcb protein kinase C beta gene DOID:6000 congestive heart failure ISO RGD:3396 D RGD:9068941 20200609 RGD associated with hypertension PMID:12392998|REF_RGD_ID:1625516 8758313 Prkcb protein kinase C beta gene DOID:630 genetic disease ISO RGD:731404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758313 Prkcb protein kinase C beta gene DOID:9000217 Stomach Neoplasms ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 8758313 Prkcb protein kinase C beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8758313 Prkcb protein kinase C beta gene DOID:9001984 Fetal Diseases ISO RGD:3396 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression PMID:15496608|REF_RGD_ID:1625524 8758313 Prkcb protein kinase C beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:3396 D RGD:9068941 20200609 RGD associated with hypertension;protein:increased expression:glomerular mesangium PMID:12540629|REF_RGD_ID:729635 8758313 Prkcb protein kinase C beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:731404 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8758313 Prkcb protein kinase C beta gene DOID:9002211 Hyperalgesia ISO RGD:3396 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased activity:spinal cord PMID:16360284|REF_RGD_ID:1625519 8758313 Prkcb protein kinase C beta gene DOID:9003936 Cardiomegaly ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:12887134|REF_RGD_ID:1581276 8758313 Prkcb protein kinase C beta gene DOID:9003936 Cardiomegaly ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121852 8758313 Prkcb protein kinase C beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:16900949|REF_RGD_ID:1581275 8758313 Prkcb protein kinase C beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3396 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:17250813|REF_RGD_ID:1625511 8758313 Prkcb protein kinase C beta gene DOID:9007692 Insulin Resistance ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:12665248|REF_RGD_ID:1625515 8758313 Prkcb protein kinase C beta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3396 D RGD:9068941 20200609 RGD PMID:15878997|REF_RGD_ID:1625520 8758313 Prkcb protein kinase C beta gene DOID:9008443 Colorectal Neoplasms ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7705931 8758313 Prkcb protein kinase C beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:731404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 8758313 Prkcb protein kinase C beta gene DOID:9970 obesity ISO RGD:3396 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mononuclear cell PMID:17180352|REF_RGD_ID:1625512 8758345 Dsc1 desmocollin 1 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1321863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 8758345 Dsc1 desmocollin 1 gene DOID:1059 intellectual disability ISO RGD:1321863 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8758345 Dsc1 desmocollin 1 gene DOID:1909 melanoma ISO RGD:1321863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 8758345 Dsc1 desmocollin 1 gene DOID:630 genetic disease ISO RGD:1321863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758345 Dsc1 desmocollin 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:1321863 D RGD:9068941 20200609 RGD mRNA:decreased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 8758381 Pla2g4d phospholipase A2 group IVD gene DOID:2717 Bloom syndrome ISO RGD:1352050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8758381 Pla2g4d phospholipase A2 group IVD gene DOID:630 genetic disease ISO RGD:1352050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758381 Pla2g4d phospholipase A2 group IVD gene DOID:9256 colorectal cancer ISO RGD:1352050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8758405 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1319437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8758405 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia ISO RGD:1319437 D RGD:7240710 20180130 OMIM 8758405 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia ISO RGD:1319437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia PMID:21700882|PMID:23643382|PMID:24033266|PMID:25077900|PMID:25636053|PMID:25741868|PMID:27535533|PMID:28492532|PMID:6881209 8758405 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1319437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:21700882|PMID:23643382|PMID:24033266|PMID:25636053|PMID:25741868|PMID:27535533|PMID:28492532 8758405 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1319437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8758405 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:1921 Klinefelter syndrome ISO RGD:1319437 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8758405 Hs6st1 heparan sulfate 6-O-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1319437 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8758411 Bhlhe40 basic helix-loop-helix family member e40 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:68659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 8758411 Bhlhe40 basic helix-loop-helix family member e40 gene DOID:0080600 COVID-19 ISO RGD:68659 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8758411 Bhlhe40 basic helix-loop-helix family member e40 gene DOID:3068 glioblastoma ISO RGD:68659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 8758411 Bhlhe40 basic helix-loop-helix family member e40 gene DOID:3312 bipolar disorder ISO RGD:68659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 8758411 Bhlhe40 basic helix-loop-helix family member e40 gene DOID:630 genetic disease ISO RGD:68659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758411 Bhlhe40 basic helix-loop-helix family member e40 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8758411 Bhlhe40 basic helix-loop-helix family member e40 gene DOID:9007102 Myocardial Ischemia ISO RGD:68659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8758421 Tmem184a transmembrane protein 184A gene DOID:630 genetic disease ISO RGD:1603256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758438 Pde7a phosphodiesterase 7A gene DOID:630 genetic disease ISO RGD:68570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28434932 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0050852 limb ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:17522350|REF_RGD_ID:1626332 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0060074 ductal carcinoma in situ ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0060074 ductal carcinoma in situ ISO RGD:730935 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:16080559|REF_RGD_ID:2306227 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0060221 Maffucci syndrome ISO RGD:730935 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0060224 atrial fibrillation ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:right atrium appendage, cytoplasm (human) PMID:19211267|REF_RGD_ID:8695924 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:0080322 polycystic kidney disease ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:17322369|REF_RGD_ID:10395372 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10283 prostate cancer ISO RGD:730935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10591 pre-eclampsia ISO RGD:730935 D RGD:9068941 20221103 RGD protein:increased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:62221 D RGD:9068941 20200609 RGD protein:increased expression:brain, microvessel (mouse) PMID:21904637|REF_RGD_ID:9068888 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:730935 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, microvessel (human) PMID:16627934|REF_RGD_ID:9068875 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:1074 kidney failure ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:kidney PMID:15583217|REF_RGD_ID:1626324 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia;protein:increased expression:aorta PMID:11882589|REF_RGD_ID:1626330 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16955051|REF_RGD_ID:1626317 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22349312 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10763 hypertension ISO RGD:730935 D RGD:9068941 20200609 RGD Hypertension, Pregnancy-Induced;mRNA, protein:increased expression:placenta PMID:15862159|REF_RGD_ID:1626322 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:10964 cholesteatoma of middle ear ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:auditory canal, epidermis (human) PMID:12838021|REF_RGD_ID:8694474 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:11054 urinary bladder cancer ISO RGD:730935 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:11650 bronchopulmonary dysplasia ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:11650 bronchopulmonary dysplasia treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:23065129|REF_RGD_ID:10395385 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:11721 glycogen storage disease VII ISO RGD:62221 D RGD:9068941 20220825 MouseDO OMIM:232800 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:11981 morbid obesity ISO RGD:730935 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:16046292|REF_RGD_ID:1626320 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:12236 primary biliary cholangitis ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22271822 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:12337 varicocele ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:epididymus (rat) PMID:25095617|REF_RGD_ID:9068459 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:12510 retinal ischemia treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:13413 hepatic encephalopathy ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Hypertension, Portal PMID:24382264|REF_RGD_ID:10395388 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:13948 bladder neck obstruction ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder (rat) PMID:12118092|REF_RGD_ID:9068887 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:14268 sclerosing cholangitis ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22271822 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:1682 congenital heart disease ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:1793 pancreatic cancer ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16628086 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2154 nephroblastoma severity ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17937859|REF_RGD_ID:2291911 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:224 transient cerebral ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, caudoputamen (rat) PMID:20417628|REF_RGD_ID:9068877 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:224 transient cerebral ischemia treatment ISO RGD:61928 D RGD:9068941 20221117 RGD PMID:30258350|REF_RGD_ID:155663419 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (rat) PMID:17101276|REF_RGD_ID:9068892 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia ISO RGD:62221 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17554006|REF_RGD_ID:1626331 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429140 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2316 brain ischemia treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:18369388|REF_RGD_ID:9068895 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2394 ovarian cancer disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:19014607|REF_RGD_ID:2306225 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2746 glycogen storage disease V ISO RGD:62221 D RGD:9068941 20220825 MouseDO OMIM:232600 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:2841 asthma treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:18160846|REF_RGD_ID:10402541 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3008 invasive ductal carcinoma ISO RGD:730935 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:16080559|REF_RGD_ID:2306227 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3021 acute kidney failure ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:15673301|REF_RGD_ID:10395376 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3021 acute kidney failure ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:18593636|REF_RGD_ID:9068894 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3021 acute kidney failure treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:16762988|REF_RGD_ID:10395386 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:305 carcinoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3068 glioblastoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12811834 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3069 malignant astrocytoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730935 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:26752192 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3454 brain infarction exacerbates ISO RGD:61928 D RGD:9068941 20221117 RGD PMID:30052311|REF_RGD_ID:155663378 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:21029239|REF_RGD_ID:9068917 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3526 cerebral infarction severity ISO RGD:730935 D RGD:9068941 20220930 RGD protein:increased expression:blood serum (human) PMID:34708885|REF_RGD_ID:155260326 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:369 olfactory neuroblastoma severity ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:neuroblastoma (human) PMID:18431543|REF_RGD_ID:8694471 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17201171 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:21812995|REF_RGD_ID:10395382 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:4449 macular retinal edema ISO RGD:730935 D RGD:9068941 20221014 RGD associated with central retinal vein occlusion;mRNA:increased expression:aqueous humor of eyeball (human) PMID:35799735|REF_RGD_ID:155582223 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:19302703|REF_RGD_ID:2306222 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:4624 Ollier disease ISO RGD:730935 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis PMID:25741868|PMID:28492532 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:4947 cholangiocarcinoma ISO RGD:730935 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:12919954|PMID:18550579|PMID:22647679|PMID:24120591|PMID:25741868 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5082 liver cirrhosis ISO RGD:730935 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36126797 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5241 hemangioblastoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5688 Werner syndrome treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:19741171|REF_RGD_ID:10402544 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:576 proteinuria ISO RGD:61928 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:brain,kidney (rat) PMID:31784544|REF_RGD_ID:155882534 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:15247145|REF_RGD_ID:1580977 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:18484163|REF_RGD_ID:5147886 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction ameliorates ISO RGD:61928 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:5844 myocardial infarction treatment ISO RGD:730935 D RGD:9068941 20200609 RGD human gene in a rat model PMID:15999059|REF_RGD_ID:9068466 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:6000 congestive heart failure ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:heart right ventricle (rat) PMID:17582388|REF_RGD_ID:9068910 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:6000 congestive heart failure ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15732037 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:630 genetic disease ISO RGD:730935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:16215633|REF_RGD_ID:10395375 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Anoxia;protein:increased expression:pulmonary artery PMID:17213961|REF_RGD_ID:1601553 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20110409 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:26078356|REF_RGD_ID:11526468 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730935 D RGD:9068941 20230202 RGD PMID:31321740|REF_RGD_ID:155882550 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:684 hepatocellular carcinoma treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:19335982|REF_RGD_ID:9068886 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:7148 rheumatoid arthritis ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:layer of synovial tissue, stromal cell PMID:12823854|REF_RGD_ID:10395366 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8398 osteoarthritis ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:18789153|REF_RGD_ID:10402406 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8398 osteoarthritis ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:layer of synovial tissue, stromal cell PMID:12823854|REF_RGD_ID:10395366 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:850 lung disease ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152896 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8691 mycosis fungoides ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:epidermis, dermis (human) PMID:24127318|REF_RGD_ID:8695934 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8717 decubitus ulcer ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:deep dorsal muscles (rat) PMID:20223667|REF_RGD_ID:8694460 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8893 psoriasis ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:17495954|REF_RGD_ID:10395383 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8893 psoriasis ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23517877|REF_RGD_ID:8695945 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8923 skin melanoma ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (human) PMID:19558170|REF_RGD_ID:8695922 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8947 diabetic retinopathy ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:retina (rat) PMID:22110070|REF_RGD_ID:7364887 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8947 diabetic retinopathy severity ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:retina, vascular endothelial cell (human) PMID:17229797|REF_RGD_ID:8694462 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:8947 diabetic retinopathy treatment ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20515763|REF_RGD_ID:8696025 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21092735|REF_RGD_ID:5148013 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000111 Radiation Injuries treatment ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:17340073|REF_RGD_ID:8695920 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:61928 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney cortex, kidney medulla (rat) PMID:32416216|REF_RGD_ID:401793731 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15703702|REF_RGD_ID:1626323 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000585 Intervertebral Disc Disease ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion, neuron, cytoplasm (rat) PMID:21243740|REF_RGD_ID:9068928 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000855 Experimental Radiation Injuries ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:white matter of spinal cord (rat) PMID:15161688|REF_RGD_ID:9068912 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23065176 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9000918 Disease Progression ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9001041 Asphyxia ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium, lung (rat) PMID:17285858|REF_RGD_ID:9068458 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:61928 D RGD:9068941 20221201 RGD PMID:21063852|REF_RGD_ID:12859045 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17085342|REF_RGD_ID:9068897 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9001390 Testis Reperfusion Injury ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:testes (rat) PMID:12193413|REF_RGD_ID:632997 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9001968 Hot Flashes susceptibility ISO RGD:730935 D RGD:9068941 20200609 RGD DNA:snp:exon:c.1744C>T (human) PMID:18785001|REF_RGD_ID:8695942 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002141 Anaplasia ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17914354|REF_RGD_ID:10395377 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17967803|REF_RGD_ID:10395374 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002170 Experimental Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28574600 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002211 Hyperalgesia ISO RGD:61928 D RGD:9068941 20200609 RGD associated with Limb Ischemia;protein:increased expression:foot muscle, plantar PMID:18691814|REF_RGD_ID:9068903 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002221 Hyperplasia ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16205110 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002457 Experimental Arthritis treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:21679445|REF_RGD_ID:8693318 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002661 Diabetes Complications ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:62221 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:20220049|REF_RGD_ID:9068455 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002909 Oxygen-Induced Retinopathy ameliorates ISO RGD:62221 D RGD:9068941 20230525 RGD PMID:35445044|REF_RGD_ID:329812014 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:18087198|REF_RGD_ID:8695923 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:21787680|REF_RGD_ID:8695948 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9002928 Colonic Neoplasms severity ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:21812995|REF_RGD_ID:10395382 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003049 Femur Head Necrosis ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:26261616|REF_RGD_ID:11087286 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003646 Arterial Thrombosis ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:plantar, foot muscle (rat) PMID:22351094|REF_RGD_ID:8695963 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:18210138|REF_RGD_ID:9068873 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:61928 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:brain,kidney (rat) PMID:31784544|REF_RGD_ID:155882534 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23694759 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:19595151|REF_RGD_ID:9068901 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003871 Venous Thrombosis ISO RGD:730935 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:36162953 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003936 Cardiomegaly ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15942707 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9003936 Cardiomegaly ISO RGDID:2074 D RGD:9068941 20230810 RGD PMID:12665660|REF_RGD_ID:401784499 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004009 Reperfusion Injury treatment ISO RGD:61928 D RGD:9068941 20200609 RGD Limb Reperfusion Injury PMID:23816242|REF_RGD_ID:9068927 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004009 Reperfusion Injury treatment ISO RGD:61928 D RGD:9068941 20200609 RGD Spinal Cord Reperfusion Injury PMID:16465055|REF_RGD_ID:9068924 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004240 Phyllodes Tumor severity ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:16168127|REF_RGD_ID:8694472 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004464 Skin Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276359 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004547 Thyroid Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12811834|PMID:29501572 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD protein:increased expression:renal/urinary system PMID:18304212|REF_RGD_ID:2306226 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004713 Acute-Phase Reaction ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19840250|REF_RGD_ID:10395370 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:18067744|REF_RGD_ID:10402540 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:24023068|REF_RGD_ID:10402191 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9005175 Ulcer ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (rat) PMID:12368217|REF_RGD_ID:632996 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:17280655|REF_RGD_ID:2293194 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9005600 Infarction ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:12911537|REF_RGD_ID:10395384 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:15663958|REF_RGD_ID:8694461 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:22432008|REF_RGD_ID:9068883 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:17519789|REF_RGD_ID:1626334 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:temporomandibular joint, cartilage PMID:20171183|REF_RGD_ID:10402539 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:23603807|REF_RGD_ID:10395381 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23065176 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium (rat) PMID:17335664|REF_RGD_ID:9068465 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007174 Ventricular Remodeling ISO RGD:61928 D RGD:9068941 20230826 RGD associated with diesel exhaust particulates exposure; protein:decreased expression:heart left ventricle (rat) PMID:23887904|REF_RGD_ID:401794424 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29501572 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007730 Burns ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:Peyer's patches (rat) PMID:19439119|REF_RGD_ID:9068477 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007748 Retinal Neovascularization treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:21414312|REF_RGD_ID:8695956 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61928 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12189448|REF_RGD_ID:1626327 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:19727523|REF_RGD_ID:5147885 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18549825|PMID:22050707 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:20170615|REF_RGD_ID:9068872 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:24072673|REF_RGD_ID:10402542 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9008023 Memory Disorders treatment ISO RGD:62221 D RGD:9068941 20200609 RGD PMID:22547371|REF_RGD_ID:10402407 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9008138 Ductal Carcinoma ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9008212 Diabetic Foot ISO RGD:730935 D RGD:9068941 20220930 RGD mRNA,protein:decreased expression:blood serum, foot (human) PMID:34293021|REF_RGD_ID:155260332 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:730935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24349381 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:19064988|REF_RGD_ID:2306224 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730935 D RGD:9068941 20200609 RGD PMID:17245699|REF_RGD_ID:2293195 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9256 colorectal cancer ameliorates ISO RGD:730935 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:61928 D RGD:9068941 20200609 RGD PMID:17914354|REF_RGD_ID:10395377 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:61928 D RGD:9068941 20200609 RGD protein:increased expression:heart blood vessel PMID:12234789|REF_RGD_ID:625730 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:730935 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:serum (human) PMID:23244125|REF_RGD_ID:8695972 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730935 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P582S (human) PMID:16046581|REF_RGD_ID:8695936 8758464 Hif1a hypoxia inducible factor 1 subunit alpha gene DOID:9970 obesity ISO RGD:730935 D RGD:9068941 20230202 RGD associated with hepatocellular carcinoma;RNA:decreased expression:liver: PMID:31321740|REF_RGD_ID:155882550 8758501 Tmem205 transmembrane protein 205 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1605798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8758501 Tmem205 transmembrane protein 205 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1605798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8758501 Tmem205 transmembrane protein 205 gene DOID:0111254 glutaric acidemia I ISO RGD:1605798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8758501 Tmem205 transmembrane protein 205 gene DOID:3413 alpha-mannosidosis ISO RGD:1605798 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8758501 Tmem205 transmembrane protein 205 gene DOID:630 genetic disease ISO RGD:1605798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758521 Ube3b ubiquitin protein ligase E3B gene DOID:0050452 mevalonic aciduria ISO RGD:1350438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mevalonic aciduria PMID:28492532 8758521 Ube3b ubiquitin protein ligase E3B gene DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ISO RGD:1350438 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome PMID:25741868 8758521 Ube3b ubiquitin protein ligase E3B gene DOID:0111456 Kaufman oculocerebrofacial syndrome ISO RGD:1350438 D RGD:7240710 20180130 OMIM 8758521 Ube3b ubiquitin protein ligase E3B gene DOID:0111456 Kaufman oculocerebrofacial syndrome ISO RGD:1350438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type PMID:14556252|PMID:16199547|PMID:1694631|PMID:17576681|PMID:23200864|PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:9536098 8758521 Ube3b ubiquitin protein ligase E3B gene DOID:630 genetic disease ISO RGD:1350438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:23687348|PMID:24615390|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30792901|PMID:9536098 8758561 Actl7b actin like 7B gene DOID:630 genetic disease ISO RGD:1313810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758570 Ttc27 tetratricopeptide repeat domain 27 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1604350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868 8758570 Ttc27 tetratricopeptide repeat domain 27 gene DOID:607 paraplegia ISO RGD:1604350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 8758570 Ttc27 tetratricopeptide repeat domain 27 gene DOID:630 genetic disease ISO RGD:1604350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758608 Zbed1 zinc finger BED-type containing 1 gene DOID:12849 autistic disorder ISO RGD:1348579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8758608 Zbed1 zinc finger BED-type containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0050452 mevalonic aciduria ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12477733 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080000 muscular disease ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23953224 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080000 muscular disease ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:21360500|REF_RGD_ID:5508448 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:19913842|REF_RGD_ID:5508690 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23117815|REF_RGD_ID:15045604 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:10652 Alzheimer's disease ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:17724290|REF_RGD_ID:5508460 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:10787 premature menopause ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:24619822|PMID:25263431|REF_RGD_ID:15045610|REF_RGD_ID:19165129 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731579 D RGD:9068941 20231109 RGD DNA:SNP:CDS:mutiple (human) PMID:35642741|REF_RGD_ID:401854249 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:11100 Q fever ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:731579 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:25741868|PMID:36745799 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:12858 Huntington's disease ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:17702587|REF_RGD_ID:5508462 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:1307 dementia ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:17640385|REF_RGD_ID:5508465 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:13141 uveitis ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:15699169|REF_RGD_ID:5508475 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:14330 Parkinson's disease ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:18184918|REF_RGD_ID:5508459 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:2044 drug-induced hepatitis ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:16140414|REF_RGD_ID:2316848 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:2841 asthma ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:20084838|REF_RGD_ID:5508450 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:3021 acute kidney failure ISO RGD:731580 D RGD:9068941 20200609 RGD associated with Sepsis PMID:16557230|REF_RGD_ID:5508471 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:3323 Sandhoff disease ISO RGD:731579 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:3393 coronary artery disease ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:12742282|REF_RGD_ID:5508477 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:417 autoimmune disease ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23953224 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:630 genetic disease ISO RGD:731579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:6432 pulmonary hypertension ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:12750068|REF_RGD_ID:5508701 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:684 hepatocellular carcinoma ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110|PMID:9207284 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:783 end stage renal disease ISO RGD:2803 D RGD:9068941 20200609 RGD associated with Hypertension PMID:21119529|REF_RGD_ID:5508686 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:783 end stage renal disease ISO RGD:2803 D RGD:9068941 20230914 RGD protein:decreased expression:kidney (rat) PMID:19878707|REF_RGD_ID:2326081 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:783 end stage renal disease ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:784 chronic kidney disease ISO RGD:2803 D RGD:9068941 20210514 RGD mRNA, protein:increased expression:liver PMID:12841361|REF_RGD_ID:1300058 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:8805 intermediate coronary syndrome ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:18333374|REF_RGD_ID:5508458 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:893 Wilson disease ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:17303181|REF_RGD_ID:2292672 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000528 Coronary Disease disease_progression ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:15809366|REF_RGD_ID:5508474 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:17250646|REF_RGD_ID:5508696 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:2803 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:24619822|REF_RGD_ID:19165129 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8593127 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:1611649|REF_RGD_ID:5508480 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000808 Hypercholesterolemia ISO RGD:731580 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25168180|REF_RGD_ID:13782271 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9000998 Brain Injuries ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:18562561|REF_RGD_ID:5508455 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9002457 Experimental Arthritis ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:17119970|REF_RGD_ID:5508468 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:14691063|REF_RGD_ID:5508476 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:17085013|REF_RGD_ID:5508469 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004009 Reperfusion Injury ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:21724106|REF_RGD_ID:5508445 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004009 Reperfusion Injury ISO RGD:2803 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18398369|REF_RGD_ID:2315888 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004009 Reperfusion Injury ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:16009498|REF_RGD_ID:5508473 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9004610 Acute Lung Injury ISO RGD:731580 D RGD:9068941 20200609 RGD PMID:16922808|REF_RGD_ID:5508470 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005036 Bacteremia severity ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:11565076|REF_RGD_ID:5508478 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12477733 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:15111316|REF_RGD_ID:2313760 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005846 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 ISO RGD:731579 D RGD:7240710 20230719 OMIM 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9005846 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 ISO RGD:731579 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 28 PMID:25741868|PMID:36745799|PMID:37167966 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006113 Gallstones ISO RGD:731579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7461467 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006646 Metabolic Syndrome ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:19461650|REF_RGD_ID:5508692 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:2803 D RGD:9068941 20230914 RGD PMID:27821167|REF_RGD_ID:401799622 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:731580 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9006647 Experimental Autoimmune Neuritis disease_progression ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:17286627|REF_RGD_ID:5508466 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9007096 Stroke ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:16316970|REF_RGD_ID:5508472 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9007096 Stroke ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:16316970|REF_RGD_ID:5508472 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9009046 Surgical Wound Dehiscence ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:19578821|REF_RGD_ID:5508683 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9351 diabetes mellitus ISO RGD:731579 D RGD:9068941 20200609 RGD PMID:15476492|REF_RGD_ID:2313755 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9352 type 2 diabetes mellitus ISO RGD:2803 D RGD:9068941 20200609 RGD PMID:15312879|REF_RGD_ID:2313759 8758614 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase gene DOID:9352 type 2 diabetes mellitus ISO RGD:731579 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17870053|REF_RGD_ID:2313753 8758640 Sec22c SEC22 homolog C, vesicle trafficking protein gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1607079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8758640 Sec22c SEC22 homolog C, vesicle trafficking protein gene DOID:630 genetic disease ISO RGD:1607079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758661 Cdh19 cadherin 19 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1316200 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8758661 Cdh19 cadherin 19 gene DOID:630 genetic disease ISO RGD:1316200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758661 Cdh19 cadherin 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:0050332 enlarged vestibular aqueduct ISO RGD:1321628 D RGD:9068941 20220825 MouseDO OMIM:600791 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:0050439 Usher syndrome ISO RGD:1321627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:30311386 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1321628 D RGD:9068941 20220825 MouseDO OMIM:607197 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:12679 nephrocalcinosis ISO RGD:1321627 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:12414817|PMID:16199547|PMID:16611712|PMID:16769747|PMID:18368028|PMID:22509993|PMID:25285676|PMID:25741868|PMID:28233610|PMID:28492532|PMID:28893421|PMID:31549751|PMID:31733597|PMID:31959358|PMID:9916796 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:14219 renal tubular acidosis ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis PMID:12414817|PMID:16611712|PMID:16769747|PMID:18368028|PMID:19364879|PMID:22509993|PMID:23923981|PMID:25741868|PMID:26571219|PMID:27247958|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:31959358|PMID:9916796 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:14219 renal tubular acidosis susceptibility ISO RGD:1321627 D RGD:9068941 20200609 RGD DNA:mutation;associated with Hearing Loss, Sensorineural PMID:9916796|REF_RGD_ID:1599372 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:543 dystonia ISO RGD:1321627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:630 genetic disease ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12566520|PMID:17669226|PMID:18368028|PMID:23923981|PMID:24033266|PMID:25285676|PMID:25498251|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34159584|PMID:9916796 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1321627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9000683 Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness ISO RGD:1321627 D RGD:7240710 20190315 OMIM 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9000683 Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness ISO RGD:1321627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness PMID:12414817|PMID:12566520|PMID:12579397|PMID:16199547|PMID:16433694|PMID:16611712|PMID:16769747|PMID:17669226|PMID:18368028|PMID:18798332|PMID:20805693|PMID:21614596|PMID:22509993|PMID:22966473|PMID:23923981|PMID:24033266|PMID:24448499|PMID:24975934|PMID:25164082|PMID:25285676|PMID:25296721|PMID:25498251|PMID:25741868|PMID:26453614|PMID:26467025|PMID:27247958|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:29310826|PMID:29627839|PMID:30076350|PMID:30311386|PMID:30558562|PMID:31949730|PMID:31959358|PMID:34159584|PMID:35738466|PMID:8651253|PMID:9916796 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1321627 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:16199547|PMID:16611712|PMID:18368028|PMID:25285676|PMID:25741868|PMID:28492532|PMID:31549751|PMID:31733597|PMID:9916796 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9004538 Hearing Loss ISO RGD:1321627 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16769747|PMID:18368028|PMID:24033266|PMID:25741868|PMID:30311386|PMID:9916796 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9004538 Hearing Loss ISO RGD:1321627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16769747|PMID:18368028|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:34159584|PMID:9916796 8758678 Atp6v1b1 ATPase H+ transporting V1 subunit B1 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1321627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:12414817|PMID:16611712|PMID:16769747|PMID:18368028|PMID:22509993|PMID:23923981|PMID:25741868|PMID:27247958|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28893421|PMID:31959358|PMID:9916796 8758715 Gpatch4 G-patch domain containing 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8758715 Gpatch4 G-patch domain containing 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8758715 Gpatch4 G-patch domain containing 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8758715 Gpatch4 G-patch domain containing 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8758715 Gpatch4 G-patch domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8758715 Gpatch4 G-patch domain containing 4 gene DOID:5812 MHC class II deficiency ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8758715 Gpatch4 G-patch domain containing 4 gene DOID:630 genetic disease ISO RGD:1606544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758715 Gpatch4 G-patch domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8758787 Arhgef25 Rho guanine nucleotide exchange factor 25 gene DOID:10283 prostate cancer ISO RGD:1601833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8758787 Arhgef25 Rho guanine nucleotide exchange factor 25 gene DOID:607 paraplegia ISO RGD:1601833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8758787 Arhgef25 Rho guanine nucleotide exchange factor 25 gene DOID:630 genetic disease ISO RGD:1601833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758787 Arhgef25 Rho guanine nucleotide exchange factor 25 gene DOID:6846 familial melanoma ISO RGD:1601833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8758810 Nell1 neural EGFL like 1 gene DOID:10283 prostate cancer ISO RGD:733264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8758810 Nell1 neural EGFL like 1 gene DOID:1059 intellectual disability ISO RGD:733264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8758810 Nell1 neural EGFL like 1 gene DOID:2340 craniosynostosis ISO RGD:620998 D RGD:9068941 20200609 RGD PMID:12235118|REF_RGD_ID:633405 8758810 Nell1 neural EGFL like 1 gene DOID:2340 craniosynostosis ISO RGD:733264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14672347 8758810 Nell1 neural EGFL like 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:733264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17452981 8758810 Nell1 neural EGFL like 1 gene DOID:630 genetic disease ISO RGD:733264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758854 Psme1 proteasome activator subunit 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8758854 Psme1 proteasome activator subunit 1 gene DOID:305 carcinoma ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8758854 Psme1 proteasome activator subunit 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8758854 Psme1 proteasome activator subunit 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8758854 Psme1 proteasome activator subunit 1 gene DOID:630 genetic disease ISO RGD:733032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758854 Psme1 proteasome activator subunit 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8758854 Psme1 proteasome activator subunit 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8758854 Psme1 proteasome activator subunit 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733032 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8758854 Psme1 proteasome activator subunit 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8758883 Drd2 dopamine receptor D2 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:2520 D RGD:9068941 20240201 RGD DNA:Hypermethylation:promoter PMID:26509893|REF_RGD_ID:11344152 8758883 Drd2 dopamine receptor D2 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:2520 D RGD:9068941 20240201 RGD mRNA:decreased expression: pituitary gland (rat) PMID:28710248|REF_RGD_ID:401960105 8758883 Drd2 dopamine receptor D2 gene DOID:0050741 alcohol dependence onset ISO RGD:736796 D RGD:9068941 20240118 RGD DNA:insertion, deletion:promoter: PMID:23238469|REF_RGD_ID:401959213 8758883 Drd2 dopamine receptor D2 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:736796 D RGD:9068941 20240118 RGD DNA:SNP: :rs1800498(human) PMID:36825486|REF_RGD_ID:401959301 8758883 Drd2 dopamine receptor D2 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:736796 D RGD:9068941 20240120 RGD DNA:SNP, haplotype:exon:rs6277 (957C>T)(human) PMID:22382052|REF_RGD_ID:401959315 8758883 Drd2 dopamine receptor D2 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:736796 D RGD:9068941 20240125 RGD DNA:SNPs, insertion/deletion:exon,introns, promoter:multiple PMID:17085484|REF_RGD_ID:401959319 8758883 Drd2 dopamine receptor D2 gene DOID:0050742 nicotine dependence treatment ISO RGD:736796 D RGD:9068941 20231123 RGD DNA:polymorphisms: :(human) PMID:17654295|REF_RGD_ID:11096878 8758883 Drd2 dopamine receptor D2 gene DOID:0060001 withdrawal disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17189962 8758883 Drd2 dopamine receptor D2 gene DOID:0080855 Parkinsonism ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:22126770|REF_RGD_ID:6907448 8758883 Drd2 dopamine receptor D2 gene DOID:0080855 Parkinsonism ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12476322|PMID:15469457|PMID:9171869 8758883 Drd2 dopamine receptor D2 gene DOID:0081292 traumatic brain injury treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:24047867|REF_RGD_ID:13506948 8758883 Drd2 dopamine receptor D2 gene DOID:0090034 myoclonic dystonia 11 ISO RGD:736796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:10220438|PMID:10716258|PMID:12402271 8758883 Drd2 dopamine receptor D2 gene DOID:10024 migraine with aura ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:snp:cds:p.H313H (human) PMID:9513185|REF_RGD_ID:1358603 8758883 Drd2 dopamine receptor D2 gene DOID:1059 intellectual disability ISO RGD:736796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8758883 Drd2 dopamine receptor D2 gene DOID:10652 Alzheimer's disease ISO RGD:736796 D RGD:9068941 20200609 RGD protein:decreased expression:blood, lymphocyte PMID:11087905|REF_RGD_ID:5686416 8758883 Drd2 dopamine receptor D2 gene DOID:10763 hypertension ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11566895 8758883 Drd2 dopamine receptor D2 gene DOID:10763 hypertension ISO RGD:736796 D RGD:9068941 20200609 RGD PMID:11494094|REF_RGD_ID:1580874 8758883 Drd2 dopamine receptor D2 gene DOID:10763 hypertension ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15939106|REF_RGD_ID:1600905 8758883 Drd2 dopamine receptor D2 gene DOID:10937 impulse control disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17332411|PMID:19940168|PMID:20671181 8758883 Drd2 dopamine receptor D2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671965 8758883 Drd2 dopamine receptor D2 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum (rat) PMID:19467315|REF_RGD_ID:2311576 8758883 Drd2 dopamine receptor D2 gene DOID:11119 Gilles de la Tourette syndrome treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:22876458|REF_RGD_ID:6907444 8758883 Drd2 dopamine receptor D2 gene DOID:12700 hyperprolactinemia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286066|PMID:19339912 8758883 Drd2 dopamine receptor D2 gene DOID:12700 hyperprolactinemia treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:26297122|REF_RGD_ID:13506955 8758883 Drd2 dopamine receptor D2 gene DOID:12858 Huntington's disease ISO RGD:10486 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (mouse) PMID:16905556|REF_RGD_ID:7248682 8758883 Drd2 dopamine receptor D2 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 8758883 Drd2 dopamine receptor D2 gene DOID:1307 dementia ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum (rat) PMID:19500946|REF_RGD_ID:2311554 8758883 Drd2 dopamine receptor D2 gene DOID:14330 Parkinson's disease ISO RGD:10486 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 8758883 Drd2 dopamine receptor D2 gene DOID:14330 Parkinson's disease ISO RGD:2520 D RGD:9068941 20200609 RGD protein:increased expression:striatum (rat) PMID:18289173|REF_RGD_ID:2311585 8758883 Drd2 dopamine receptor D2 gene DOID:14330 Parkinson's disease ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8558425 8758883 Drd2 dopamine receptor D2 gene DOID:1561 cognitive disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19910723 8758883 Drd2 dopamine receptor D2 gene DOID:1596 depressive disorder ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:21596067|REF_RGD_ID:6907449 8758883 Drd2 dopamine receptor D2 gene DOID:1596 depressive disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:snp:cds:p.H313H (human) PMID:9513185|REF_RGD_ID:1358603 8758883 Drd2 dopamine receptor D2 gene DOID:1742 drug psychosis ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:26174132|REF_RGD_ID:11534754 8758883 Drd2 dopamine receptor D2 gene DOID:2030 anxiety disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18305461|PMID:20532872 8758883 Drd2 dopamine receptor D2 gene DOID:2030 anxiety disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:snp:cds:p.H313H (human) PMID:9513185|REF_RGD_ID:1358603 8758883 Drd2 dopamine receptor D2 gene DOID:2316 brain ischemia ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:11474153|REF_RGD_ID:1580883 8758883 Drd2 dopamine receptor D2 gene DOID:251 alcohol-induced mental disorder ISO RGD:736796 D RGD:9068941 20240125 RGD DNA:SNP:cds:957C>T(human) PMID:18669994|REF_RGD_ID:401959336 8758883 Drd2 dopamine receptor D2 gene DOID:2559 opiate dependence susceptibility ISO RGD:736796 D RGD:9068941 20240118 RGD DNA:SNP,haplotype: :rs1076560,rs6275(human) PMID:19373123|REF_RGD_ID:401959309 8758883 Drd2 dopamine receptor D2 gene DOID:2559 opiate dependence treatment ISO RGD:736796 D RGD:9068941 20240118 RGD DNA:SNP: :rs6275(human) PMID:19373123|REF_RGD_ID:401959309 8758883 Drd2 dopamine receptor D2 gene DOID:2560 morphine dependence ISO RGD:2520 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:18276072|REF_RGD_ID:2311587 8758883 Drd2 dopamine receptor D2 gene DOID:303 substance-related disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16901644 8758883 Drd2 dopamine receptor D2 gene DOID:3602 toxic encephalopathy ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:19576243|REF_RGD_ID:2311553 8758883 Drd2 dopamine receptor D2 gene DOID:446 primary hyperaldosteronism ISO RGD:10486 D RGD:9068941 20220825 MouseDO OMIM:605635 | OMIM:613677 8758883 Drd2 dopamine receptor D2 gene DOID:480 movement disease ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6858777 8758883 Drd2 dopamine receptor D2 gene DOID:480 movement disease ISO RGD:736796 D RGD:9068941 20200609 RGD myoclonus dystonia, OMIM:159900, V154I PMID:10220438|REF_RGD_ID:1600903 8758883 Drd2 dopamine receptor D2 gene DOID:5419 schizophrenia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10831489|PMID:11245917|PMID:18583979|PMID:21187413 8758883 Drd2 dopamine receptor D2 gene DOID:5419 schizophrenia ISO RGD:736796 D RGD:9068941 20200609 RGD protein:decreased homodimerization:temporal cortex: PMID:20067857|REF_RGD_ID:9835359 8758883 Drd2 dopamine receptor D2 gene DOID:5419 schizophrenia ISO RGD:736796 D RGD:9068941 20200609 RGD protein:increase homodimerization:striatum PMID:20813060|REF_RGD_ID:6907450 8758883 Drd2 dopamine receptor D2 gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:25217874|REF_RGD_ID:13506956 8758883 Drd2 dopamine receptor D2 gene DOID:543 dystonia ISO RGD:736796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17576681|PMID:25711927|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 8758883 Drd2 dopamine receptor D2 gene DOID:630 genetic disease ISO RGD:736796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 8758883 Drd2 dopamine receptor D2 gene DOID:670 amphetamine abuse ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18363855|PMID:18555060|PMID:19940168 8758883 Drd2 dopamine receptor D2 gene DOID:679 basal ganglia disease ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11198054|PMID:12211096|PMID:18480698|PMID:19225277|PMID:19506579 8758883 Drd2 dopamine receptor D2 gene DOID:783 end stage renal disease ISO RGD:736796 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; DNA:polymorphisms:5'utr, intron: -141delC, G>A (human) PMID:18366720|REF_RGD_ID:2311602 8758883 Drd2 dopamine receptor D2 gene DOID:9000499 Alcoholic Intoxication treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:28300818|REF_RGD_ID:13506954 8758883 Drd2 dopamine receptor D2 gene DOID:9000641 Pain ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15996639 8758883 Drd2 dopamine receptor D2 gene DOID:9000998 Brain Injuries ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:18509630|REF_RGD_ID:2311580 8758883 Drd2 dopamine receptor D2 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:2520 D RGD:9068941 20240222 RGD mRNA:decreased expression:nucleus accumbens (rat) PMID:23579081|REF_RGD_ID:401976414 8758883 Drd2 dopamine receptor D2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18579413 8758883 Drd2 dopamine receptor D2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple PMID:17108814|REF_RGD_ID:1600904 8758883 Drd2 dopamine receptor D2 gene DOID:9002234 Pituitary Neoplasms ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12727942 8758883 Drd2 dopamine receptor D2 gene DOID:9002362 Hyperkinesis ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1975278|PMID:24418703 8758883 Drd2 dopamine receptor D2 gene DOID:9002457 Experimental Arthritis ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:increased expression:corpus striatum (rat) PMID:23762129|REF_RGD_ID:7248592 8758883 Drd2 dopamine receptor D2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:23762129|REF_RGD_ID:7248592 8758883 Drd2 dopamine receptor D2 gene DOID:9002554 Tachycardia ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:8287413|REF_RGD_ID:1580884 8758883 Drd2 dopamine receptor D2 gene DOID:9002554 Tachycardia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10721819|PMID:9777039 8758883 Drd2 dopamine receptor D2 gene DOID:9003805 Catalepsy ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1365866|PMID:3283778|PMID:7845605|PMID:9618422 8758883 Drd2 dopamine receptor D2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8758883 Drd2 dopamine receptor D2 gene DOID:9004120 Alcohol Withdrawal Seizures susceptibility ISO RGD:736796 D RGD:9068941 20240118 RGD DNA:SNP:exon:A>G(human) PMID:23238469|REF_RGD_ID:401959213 8758883 Drd2 dopamine receptor D2 gene DOID:9004657 Weight Gain ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20375926 8758883 Drd2 dopamine receptor D2 gene DOID:9005466 Language Development Disorders ISO RGD:736796 D RGD:9068941 20240125 RGD DNA:SNP,haplotype::rs6278(human) PMID:23691092|REF_RGD_ID:401959324 8758883 Drd2 dopamine receptor D2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2520 D RGD:9068941 20200609 RGD protein:increased activity:caudate putamen (rat) PMID:18284941|REF_RGD_ID:2311586 8758883 Drd2 dopamine receptor D2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10900248|PMID:11751029|PMID:11923462|PMID:15010698|PMID:15042275|PMID:16541082|PMID:16971900|PMID:17332411|PMID:18418874|PMID:20494958 8758883 Drd2 dopamine receptor D2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2520 D RGD:9068941 20200609 RGD protein:altered activity:hypothalamus, pancreatic islet, brainstem (rat) PMID:17174299|REF_RGD_ID:1624999 8758883 Drd2 dopamine receptor D2 gene DOID:9005968 Neuralgia ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:22171983|PMID:22902996|REF_RGD_ID:6907443|REF_RGD_ID:6907447 8758883 Drd2 dopamine receptor D2 gene DOID:9006024 Hypotension ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10626749|PMID:12946566|PMID:1724532|PMID:9917201 8758883 Drd2 dopamine receptor D2 gene DOID:9007001 Bradycardia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10626749|PMID:1724532 8758883 Drd2 dopamine receptor D2 gene DOID:9008023 Memory Disorders ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21592505 8758883 Drd2 dopamine receptor D2 gene DOID:9008086 Developmental Disabilities ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21592505 8758883 Drd2 dopamine receptor D2 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:18707801|REF_RGD_ID:2311579 8758883 Drd2 dopamine receptor D2 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10534246|PMID:14629710|PMID:7845605 8758883 Drd2 dopamine receptor D2 gene DOID:9008675 Dyskinesias ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16435402 8758883 Drd2 dopamine receptor D2 gene DOID:9008953 Binge-Eating Disorder ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:28821448|REF_RGD_ID:13506951 8758883 Drd2 dopamine receptor D2 gene DOID:9008967 Brain Concussion ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:26448536|REF_RGD_ID:13506960 8758883 Drd2 dopamine receptor D2 gene DOID:93 language disorder ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23691092 8758883 Drd2 dopamine receptor D2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:32806C>T (human) PMID:18834717|REF_RGD_ID:2311601 8758883 Drd2 dopamine receptor D2 gene DOID:9970 obesity ISO RGD:2520 D RGD:9068941 20200609 RGD mRNA:decreased expression:ventral tegmental area (rat) PMID:18477764|REF_RGD_ID:2311581 8758883 Drd2 dopamine receptor D2 gene DOID:9970 obesity ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15939106|REF_RGD_ID:1600905 8758883 Drd2 dopamine receptor D2 gene DOID:9970 obesity ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:enhancer, promoter, intron:multiple PMID:17108814|REF_RGD_ID:1600904 8758883 Drd2 dopamine receptor D2 gene DOID:9975 cocaine dependence ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:29454035|REF_RGD_ID:13506950 8758883 Drd2 dopamine receptor D2 gene DOID:9975 cocaine dependence sexual_dimorphism ISO RGD:736796 D RGD:9068941 20240127 RGD female only;DNA:SNP: :rs2283265(human) PMID:30367264|REF_RGD_ID:401959597 8758883 Drd2 dopamine receptor D2 gene DOID:9975 cocaine dependence treatment ISO RGD:736796 D RGD:9068941 20240113 RGD DNA:SNP: :rs2283265(human) PMID:23635803|REF_RGD_ID:401959203 8758883 Drd2 dopamine receptor D2 gene DOID:9976 heroin dependence ISO RGD:2520 D RGD:9068941 20200609 RGD PMID:28598964|REF_RGD_ID:13506959 8758883 Drd2 dopamine receptor D2 gene DOID:9976 heroin dependence ISO RGD:736796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751029 8758883 Drd2 dopamine receptor D2 gene DOID:9976 heroin dependence onset ISO RGD:736796 D RGD:9068941 20240113 RGD DNA:SNPS:exon, intron:multiples(human) PMID:28854834|REF_RGD_ID:401959202 8758883 Drd2 dopamine receptor D2 gene DOID:9976 heroin dependence susceptibility ISO RGD:736796 D RGD:9068941 20240118 RGD DNA:SNP:intron:rs1079597(human) PMID:23840506|REF_RGD_ID:401959223 8758895 Znf518b zinc finger protein 518B gene DOID:630 genetic disease ISO RGD:1604562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758910 Lhx6 LIM homeobox 6 gene DOID:630 genetic disease ISO RGD:1314642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758934 Prune2 prune homolog 2 with BCH domain gene DOID:630 genetic disease ISO RGD:1322392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758934 Prune2 prune homolog 2 with BCH domain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8758958 Galnt13 polypeptide N-acetylgalactosaminyltransferase 13 gene DOID:630 genetic disease ISO RGD:1343318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758958 Galnt13 polypeptide N-acetylgalactosaminyltransferase 13 gene DOID:9005369 Hepatomegaly ISO RGD:1343318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8758978 Mchr1 melanin concentrating hormone receptor 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8758978 Mchr1 melanin concentrating hormone receptor 1 gene DOID:11981 morbid obesity onset ISO RGD:733421 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:16186414|REF_RGD_ID:1624359 8758978 Mchr1 melanin concentrating hormone receptor 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:733421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 8758978 Mchr1 melanin concentrating hormone receptor 1 gene DOID:630 genetic disease ISO RGD:733421 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8758978 Mchr1 melanin concentrating hormone receptor 1 gene DOID:9970 obesity ISO RGD:619841 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:15363890|REF_RGD_ID:1624360 8758984 Rapgef4 Rap guanine nucleotide exchange factor 4 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1351048 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8758984 Rapgef4 Rap guanine nucleotide exchange factor 4 gene DOID:12849 autistic disorder ISO RGD:1351048 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:14593429|REF_RGD_ID:9835387 8758984 Rapgef4 Rap guanine nucleotide exchange factor 4 gene DOID:630 genetic disease ISO RGD:1351048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8758984 Rapgef4 Rap guanine nucleotide exchange factor 4 gene DOID:9007730 Burns treatment ISO RGD:621886 D RGD:9068941 20200609 RGD PMID:24973766|REF_RGD_ID:9850087 8759035 Pigh phosphatidylinositol glycan anchor biosynthesis class H gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1322902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 8759035 Pigh phosphatidylinositol glycan anchor biosynthesis class H gene DOID:10283 prostate cancer ISO RGD:1322902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8759035 Pigh phosphatidylinositol glycan anchor biosynthesis class H gene DOID:630 genetic disease ISO RGD:1322902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33156547|PMID:35445667 8759035 Pigh phosphatidylinositol glycan anchor biosynthesis class H gene DOID:9003249 Glycosylphosphatidylinositol Biosynthesis Defect 17 ISO RGD:1322902 D RGD:7240710 20190315 OMIM 8759035 Pigh phosphatidylinositol glycan anchor biosynthesis class H gene DOID:9003249 Glycosylphosphatidylinositol Biosynthesis Defect 17 ISO RGD:1322902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 | ClinVar Annotator: match by term: PIGH-related condition PMID:25741868|PMID:29573052|PMID:29603516|PMID:33156547|PMID:35445667 8759058 Ubxn7 UBX domain protein 7 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1607058 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8759058 Ubxn7 UBX domain protein 7 gene DOID:12849 autistic disorder ISO RGD:1607058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8759058 Ubxn7 UBX domain protein 7 gene DOID:5419 schizophrenia ISO RGD:1607058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8759058 Ubxn7 UBX domain protein 7 gene DOID:630 genetic disease ISO RGD:1607058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759072 Gpalpp1 GPALPP motifs containing 1 gene DOID:630 genetic disease ISO RGD:1316340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759089 Uba3 ubiquitin like modifier activating enzyme 3 gene DOID:630 genetic disease ISO RGD:737348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759121 Sh3bp5 SH3 domain binding protein 5 gene DOID:0060417 3p deletion syndrome ISO RGD:733305 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8759121 Sh3bp5 SH3 domain binding protein 5 gene DOID:630 genetic disease ISO RGD:733305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759131 Glo1 glyoxalase I gene DOID:12849 autistic disorder ISO RGD:1350387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 1 PMID:15386471|PMID:17722011|PMID:18721844 8759131 Glo1 glyoxalase I gene DOID:12849 autistic disorder resistance ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP: :419C>A (human) PMID:17346350|REF_RGD_ID:7242568 8759131 Glo1 glyoxalase I gene DOID:1596 depressive disorder ISO RGD:1350387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 8759131 Glo1 glyoxalase I gene DOID:178 vascular disease ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP: :419C>A (human) PMID:18079478|REF_RGD_ID:7242571 8759131 Glo1 glyoxalase I gene DOID:1909 melanoma ISO RGD:1350387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20093988 8759131 Glo1 glyoxalase I gene DOID:2030 anxiety disorder ISO RGD:1350387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 8759131 Glo1 glyoxalase I gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8759131 Glo1 glyoxalase I gene DOID:630 genetic disease ISO RGD:1350387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759131 Glo1 glyoxalase I gene DOID:783 end stage renal disease severity ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP: :419C>A (human) PMID:20185929|REF_RGD_ID:7242570 8759131 Glo1 glyoxalase I gene DOID:8947 diabetic retinopathy ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-7C>T (human) PMID:21738003|REF_RGD_ID:7242569 8759131 Glo1 glyoxalase I gene DOID:9002165 Diabetic Nephropathies ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-7C>T (human) PMID:21738003|REF_RGD_ID:7242569 8759131 Glo1 glyoxalase I gene DOID:9002661 Diabetes Complications no_association ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:SNP: :419C>A (human) PMID:21738003|REF_RGD_ID:7242569 8759131 Glo1 glyoxalase I gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1350387 D RGD:9068941 20200609 RGD PMID:19211689|REF_RGD_ID:7242566 8759131 Glo1 glyoxalase I gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2702 D RGD:9068941 20200609 RGD PMID:19211689|REF_RGD_ID:7242566 8759131 Glo1 glyoxalase I gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350387 D RGD:9068941 20200609 RGD DNA:point mutation: :c.332A>C (human) PMID:18413187|REF_RGD_ID:7242567 8759142 Syne3 spectrin repeat containing nuclear envelope family member 3 gene DOID:12858 Huntington's disease ISO RGD:1312072 D RGD:9068941 20200609 RGD up-regulated PMID:22202438|REF_RGD_ID:11073597 8759142 Syne3 spectrin repeat containing nuclear envelope family member 3 gene DOID:630 genetic disease ISO RGD:1312072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1347132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:1347132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:732736 D RGD:9068941 20200609 RGD PMID:17182591|REF_RGD_ID:4146242 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:polymorphism: :1398A>G (human) PMID:17006604|REF_RGD_ID:4892639 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:732736 D RGD:9068941 20200609 RGD PMID:11714828|PMID:18480254|REF_RGD_ID:4892647|REF_RGD_ID:4892654 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma ISO RGD:732736 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:20383033|REF_RGD_ID:4892646 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma no_association ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:polymorphism: :1050C>T (human) PMID:10686479|REF_RGD_ID:4892655 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:2841 asthma no_association ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) PMID:17392323|REF_RGD_ID:4892650 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:SNP: :rs2250747 (human) PMID:19796199|REF_RGD_ID:4145601 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:3310 atopic dermatitis ISO RGD:1347132 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:14527737|REF_RGD_ID:8549525 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:418 systemic scleroderma no_association ISO RGD:1347132 D RGD:9068941 20200609 RGD DNA:SNP:intron:43163G>A (rs6646259) (human) PMID:22045834|REF_RGD_ID:8549502 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1347132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:1347132 D RGD:9068941 20200609 RGD PMID:20808962|REF_RGD_ID:4892610 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:732736 D RGD:9068941 20200609 RGD PMID:20671265|REF_RGD_ID:4892611 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:8893 psoriasis ISO RGD:1347132 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:14527737|REF_RGD_ID:8549525 8759185 Il13ra1 interleukin 13 receptor subunit alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 8759203 Phf12 PHD finger protein 12 gene DOID:630 genetic disease ISO RGD:1313935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759203 Phf12 PHD finger protein 12 gene DOID:9008582 Developmental Disease ISO RGD:1313935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8759223 Cntln centlein gene DOID:13938 amenorrhea ISO RGD:1317678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8759223 Cntln centlein gene DOID:630 genetic disease ISO RGD:1317678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759254 Adcy2 adenylate cyclase 2 gene DOID:2841 asthma ISO RGD:734219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 8759254 Adcy2 adenylate cyclase 2 gene DOID:3312 bipolar disorder ISO RGD:734219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8759254 Adcy2 adenylate cyclase 2 gene DOID:630 genetic disease ISO RGD:734219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759283 Me2 malic enzyme 2 gene DOID:1059 intellectual disability ISO RGD:1321157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8759283 Me2 malic enzyme 2 gene DOID:630 genetic disease ISO RGD:1321157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759283 Me2 malic enzyme 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1310321 D RGD:9068941 20220224 RGD mRNA:increased expression:right and right ventricles PMID:23794090|REF_RGD_ID:151361111 8759306 Pabir2 PABIR family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8759306 Pabir2 PABIR family member 2 gene DOID:12849 autistic disorder ISO RGD:1605855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:0050476 Barth syndrome ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:0060309 syndromic X-linked intellectual disability ISO RGD:1623199 D RGD:9068941 20220825 MouseDO 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:0111781 Waisman syndrome ISO RGD:1354105 D RGD:7240710 20180130 OMIM 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:0111781 Waisman syndrome ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal ganglia disorder with mental retardation | ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome PMID:1674730|PMID:25434005|PMID:25741868|PMID:26399558|PMID:26467025|PMID:4025396 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:0112003 immunodeficiency 33 ISO RGD:1354105 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:0112059 non-syndromic X-linked intellectual disability 72 ISO RGD:1354105 D RGD:7240710 20180130 OMIM 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:0112059 non-syndromic X-linked intellectual disability 72 ISO RGD:1354105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72 PMID:11050621|PMID:19377476|PMID:20159109|PMID:25741868|PMID:26467025|PMID:26739247|PMID:28492532 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:10588 adrenoleukodystrophy ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1354105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21076407 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:13628 favism ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:1826 epilepsy ISO RGD:1354105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20159109 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:2729 dyskeratosis congenita ISO RGD:1354105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:607 paraplegia ISO RGD:1354105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354105 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:25741868|PMID:26739247|PMID:28492532 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:9002720 Splenomegaly ISO RGD:1354105 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1354105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20159109 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:9006820 Parkinson's Disease, X-Linked Dominant ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, X-linked dominant PMID:26399558 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:9008582 Developmental Disease ISO RGD:1354105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8759321 Rab39b RAB39B, member RAS oncogene family gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1354105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20159109 8759371 Galntl6 polypeptide N-acetylgalactosaminyltransferase like 6 gene DOID:630 genetic disease ISO RGD:2301498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759371 Galntl6 polypeptide N-acetylgalactosaminyltransferase like 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:1612 breast cancer ISO RGD:1322580 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:tumor:increased protein levels and nuclear translocation vs adjacent normal breast tissue PMID:10713699|REF_RGD_ID:2300275 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:2671 transitional cell carcinoma ISO RGD:1322580 D RGD:9068941 20200609 RGD Urinary bladder TCC; protein, mRNA:altered localization, increased expression:tumor:increased expression (p<0.01) and increased nuclear localization (p<0.01) vs adjacent non-cancerous bladder mucosa PMID:12452071|REF_RGD_ID:2300270 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:630 genetic disease ISO RGD:1322580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17072339|PMID:28492532 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:7148 rheumatoid arthritis ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19503088|PMID:20453842|PMID:23143596 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:8567 Hodgkin's lymphoma ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037568 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:8893 psoriasis ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:8929 atrophic gastritis ISO RGD:1322581 D RGD:9068941 20201218 RGD associated with Helicobacter Infections PMID:23975431|REF_RGD_ID:40902973 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:9000365 Immunodeficiency 92 ISO RGD:1322580 D RGD:7240710 20211222 OMIM 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:9000365 Immunodeficiency 92 ISO RGD:1322580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 92 PMID:31103457|PMID:34623332 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1322581 D RGD:9068941 20200609 RGD DNA:transgene:mammary gland:mouse c-Rel cDNA driven by the MMTV-LTR promoter PMID:12897145|REF_RGD_ID:2300264 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:9000495 Tremor ISO RGD:1322580 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31481676 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:9000831 Hypokinesia ISO RGD:1322580 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31481676 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:9004649 Heat Stroke ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:9008023 Memory Disorders ISO RGD:1322580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20477932 8759388 Rel REL proto-oncogene, NF-kB subunit gene DOID:9256 colorectal cancer susceptibility ISO RGD:1322581 D RGD:9068941 20201218 RGD associated with Experimental Colitis PMID:25727407|REF_RGD_ID:40902978 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0060309 syndromic X-linked intellectual disability ISO RGD:733678 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: X-linked syndromic intellectual disability PMID:22452838|PMID:25741868 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0060768 Smith-Magenis syndrome ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:25741868|PMID:27799067 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:733678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:733678 D RGD:7240710 20180130 OMIM 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:733678 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type PMID:16199547|PMID:17576681|PMID:18414213|PMID:19165920|PMID:19377476|PMID:20029458|PMID:21609947|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22495306|PMID:22709267|PMID:23165780|PMID:23406872|PMID:23871722|PMID:23901204|PMID:24505460|PMID:24781210|PMID:24893065|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25886057|PMID:26467025|PMID:27173948|PMID:27652284|PMID:27799067|PMID:28132688|PMID:28407358|PMID:28492532|PMID:28783747|PMID:28944139|PMID:29691940|PMID:29878067|PMID:30549415|PMID:31474318|PMID:31785789|PMID:33090494|PMID:33504798|PMID:9536098 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:0070338 cerebellar hypoplasia ISO RGD:733678 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:21735175|PMID:25326635|PMID:25741868|PMID:25886057|PMID:31474318|PMID:32581362 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:10283 prostate cancer ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:1059 intellectual disability ISO RGD:733678 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:10907 microcephaly ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165920 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:12849 autistic disorder ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:13628 favism ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:14711 FG syndrome ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:14711 FG syndrome ISO RGD:733678 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R28L (c.83G>T) (human) PMID:19200522|REF_RGD_ID:11576290 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:1826 epilepsy ISO RGD:733678 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:2786 cerebellar disease ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165920 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:305 carcinoma ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:543 dystonia ISO RGD:733678 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:20029458|PMID:25741868|PMID:28139025 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:630 genetic disease ISO RGD:733678 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19165920|PMID:19377476|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23871722|PMID:24505460|PMID:24781210|PMID:24893065|PMID:25741868|PMID:25886057|PMID:26467025|PMID:28492532|PMID:28944139 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:674 cleft palate ISO RGD:62296 D RGD:9068941 20200609 RGD DNA:insertion PMID:9787075|REF_RGD_ID:11576291 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:674 cleft palate ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9787075 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9000441 Butyrylcholinesterase Deficiency ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase PMID:25741868 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9000459 Acholinesterasemia ISO RGD:733678 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acholinesterasemia PMID:25741868 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9000998 Brain Injuries ISO RGD:62004 D RGD:9068941 20200609 RGD PMID:25089700|REF_RGD_ID:11576302 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9001153 FG Syndrome 4 ISO RGD:733678 D RGD:7240710 20200226 OMIM 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9001153 FG Syndrome 4 ISO RGD:733678 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 PMID:18414213|PMID:19165920|PMID:19200522|PMID:19377476|PMID:20029458|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23406872|PMID:23871722|PMID:24505460|PMID:24781210|PMID:25741868|PMID:27652284|PMID:27799067|PMID:28139025|PMID:28492532|PMID:28944139|PMID:29878067|PMID:30525188|PMID:30549415|PMID:33090494 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:733678 D RGD:9068941 20200609 RGD PMID:9722958|REF_RGD_ID:734690 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:733678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165920|PMID:19377476 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9006534 Nervous System Malformations ISO RGD:733678 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:27799067|PMID:28492532|PMID:30525188|PMID:33090494 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9008086 Developmental Disabilities ISO RGD:733678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32581362 8759402 Cask calcium/calmodulin dependent serine protein kinase gene DOID:9008582 Developmental Disease ISO RGD:733678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8759443 Arrb1 arrestin beta 1 gene DOID:0060180 colitis ISO RGD:2156 D RGD:9068941 20200609 RGD protein:increased expression:colon (rat) PMID:21066892|REF_RGD_ID:5509893 8759443 Arrb1 arrestin beta 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:732370 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8759443 Arrb1 arrestin beta 1 gene DOID:1059 intellectual disability ISO RGD:732370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8759443 Arrb1 arrestin beta 1 gene DOID:1470 major depressive disorder severity ISO RGD:732370 D RGD:9068941 20200609 RGD protein:decreased expression:blood, mononuclear cell PMID:15514408|REF_RGD_ID:1578803 8759443 Arrb1 arrestin beta 1 gene DOID:5082 liver cirrhosis ISO RGD:732370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8759443 Arrb1 arrestin beta 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2156 D RGD:9068941 20200609 RGD PMID:21232674|REF_RGD_ID:5509888 8759443 Arrb1 arrestin beta 1 gene DOID:630 genetic disease ISO RGD:732370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759443 Arrb1 arrestin beta 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2156 D RGD:9068941 20200609 RGD protein:increased expression:knee, synoviocyte (rat) PMID:20965243|REF_RGD_ID:5509895 8759443 Arrb1 arrestin beta 1 gene DOID:9004283 Transplant Rejection ISO RGD:2156 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, leukocyte PMID:21193245|REF_RGD_ID:13506894 8759443 Arrb1 arrestin beta 1 gene DOID:9005605 Arteriovenous Fistula ISO RGD:2156 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:left ventricle (rat) PMID:22015551|REF_RGD_ID:5509867 8759476 Hip1r huntingtin interacting protein 1 related gene DOID:0060224 atrial fibrillation ISO RGD:733372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8759476 Hip1r huntingtin interacting protein 1 related gene DOID:630 genetic disease ISO RGD:733372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759530 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1314029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 8759530 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8759530 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1314029 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Intellectual disability 8759530 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:12849 autistic disorder ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8759530 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:1289 neurodegenerative disease ISO RGD:1314029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 8759530 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1314029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759530 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8759530 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8759530 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:9263 homocystinuria ISO RGD:1314029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8759530 Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314029 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8759575 Bcl2l11 BCL2 like 11 gene DOID:14268 sclerosing cholangitis ISO RGD:734299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151127 8759575 Bcl2l11 BCL2 like 11 gene DOID:2921 glomerulonephritis ISO RGD:734300 D RGD:9068941 20200609 RGD PMID:10576740|REF_RGD_ID:734641 8759575 Bcl2l11 BCL2 like 11 gene DOID:630 genetic disease ISO RGD:734299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759575 Bcl2l11 BCL2 like 11 gene DOID:9005539 Familial Prostate Cancer ISO RGD:734299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8759575 Bcl2l11 BCL2 like 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8759634 Sphkap SPHK1 interactor, AKAP domain containing gene DOID:6000 congestive heart failure ISO RGD:1604287 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8759634 Sphkap SPHK1 interactor, AKAP domain containing gene DOID:630 genetic disease ISO RGD:1604287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759651 Ccnt1 cyclin T1 gene DOID:6000 congestive heart failure ISO RGD:1322458 D RGD:9068941 20200609 RGD PMID:15297879|REF_RGD_ID:1556509 8759651 Ccnt1 cyclin T1 gene DOID:630 genetic disease ISO RGD:1322457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759651 Ccnt1 cyclin T1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1311151 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:20828602|REF_RGD_ID:9698426 8759671 Mitf melanocyte inducing transcription factor gene DOID:0050563 nonsyndromic deafness ISO RGD:735982 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:20127975|PMID:25741868|PMID:28492532|PMID:28690485|PMID:30311386|PMID:31898538|PMID:34142234|PMID:34997062|PMID:8659547 8759671 Mitf melanocyte inducing transcription factor gene DOID:0050632 oculocutaneous albinism ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 8759671 Mitf melanocyte inducing transcription factor gene DOID:0070098 oculocutaneous albinism type IV ISO RGD:735982 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 4 PMID:25741868|PMID:28492532 8759671 Mitf melanocyte inducing transcription factor gene DOID:0090002 Tietz syndrome ISO RGD:735982 D RGD:7240710 20240313 OMIM 8759671 Mitf melanocyte inducing transcription factor gene DOID:0090002 Tietz syndrome ISO RGD:735982 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tietz albinism-deafness syndrome | ClinVar Annotator: match by term: Tietz syndrome PMID:10587587|PMID:10851256|PMID:13985019|PMID:16199547|PMID:17318840|PMID:17576681|PMID:20127975|PMID:21373256|PMID:22012259|PMID:22080950|PMID:22158021|PMID:22258527|PMID:23167872|PMID:23512835|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24194866|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26850479|PMID:26999813|PMID:27153395|PMID:27349893|PMID:27473757|PMID:27680874|PMID:27759048|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29115496|PMID:29484430|PMID:29506128|PMID:29625052|PMID:29706638|PMID:30117279|PMID:30311386|PMID:30414346|PMID:30549420|PMID:30936914|PMID:31213145|PMID:31427586|PMID:31465090|PMID:31898538|PMID:32054529|PMID:32728090|PMID:33051548|PMID:33240314|PMID:34142234|PMID:34289891|PMID:34662886|PMID:34997062|PMID:35802133|PMID:36451132|PMID:36633841|PMID:8589691|PMID:8659547|PMID:9279758|PMID:9536098 8759671 Mitf melanocyte inducing transcription factor gene DOID:0090100 ocular albinism with sensorineural deafness ISO RGD:735983 D RGD:9068941 20220825 MouseDO OMIM:103470 8759671 Mitf melanocyte inducing transcription factor gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:735982 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:16199547|PMID:20127975|PMID:25741868|PMID:28492532|PMID:30394532|PMID:31541171|PMID:32013026|PMID:34142234|PMID:8659547 8759671 Mitf melanocyte inducing transcription factor gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:735982 D RGD:7240710 20240313 OMIM 8759671 Mitf melanocyte inducing transcription factor gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:735982 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM | ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:10587587|PMID:10851256|PMID:15284851|PMID:16199547|PMID:17576681|PMID:20127975|PMID:20478267|PMID:21373256|PMID:21438779|PMID:22012259|PMID:22080950|PMID:22158021|PMID:22320238|PMID:23167872|PMID:23512835|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24194866|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:27759048|PMID:27889061|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29115496|PMID:29407415|PMID:29506128|PMID:29531335|PMID:29625052|PMID:29706638|PMID:30117279|PMID:30311386|PMID:30394532|PMID:30414346|PMID:30549420|PMID:31213145|PMID:31465090|PMID:31541171|PMID:32013026|PMID:32054529|PMID:33051548|PMID:33111345|PMID:33240314|PMID:34142234|PMID:34289891|PMID:34599368|PMID:34662886|PMID:34997062|PMID:35802133|PMID:36451132|PMID:36633841|PMID:666627|PMID:7874167|PMID:8589691|PMID:8659547|PMID:9158138|PMID:9536098|PMID:9856573 8759671 Mitf melanocyte inducing transcription factor gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:735982 D RGD:9068941 20220714 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 8759671 Mitf melanocyte inducing transcription factor gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8759671 Mitf melanocyte inducing transcription factor gene DOID:10003 sensorineural hearing loss ISO RGD:735982 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:20127975|PMID:20478267|PMID:22320238|PMID:24194866|PMID:25741868|PMID:28492532|PMID:29407415|PMID:29531335|PMID:30394532|PMID:8659547 8759671 Mitf melanocyte inducing transcription factor gene DOID:10123 pigmentation disease ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 8759671 Mitf melanocyte inducing transcription factor gene DOID:1059 intellectual disability ISO RGD:735982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10851256|PMID:25741868|PMID:28492532 8759671 Mitf melanocyte inducing transcription factor gene DOID:13533 osteopetrosis ISO RGD:735983 D RGD:9068941 20220825 MouseDO 8759671 Mitf melanocyte inducing transcription factor gene DOID:14021 Tietze's syndrome ISO RGD:735982 D RGD:9068941 20200609 RGD PMID:10851256|REF_RGD_ID:1599943 8759671 Mitf melanocyte inducing transcription factor gene DOID:1909 melanoma ISO RGD:735982 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 8759671 Mitf melanocyte inducing transcription factor gene DOID:1909 melanoma ISO RGD:735982 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 8759671 Mitf melanocyte inducing transcription factor gene DOID:4450 renal cell carcinoma ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22012259 8759671 Mitf melanocyte inducing transcription factor gene DOID:4997 Camurati-Engelmann disease ISO RGD:735983 D RGD:9068941 20220825 MouseDO OMIM:131300 | OMIM:606631 8759671 Mitf melanocyte inducing transcription factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8759671 Mitf melanocyte inducing transcription factor gene DOID:630 genetic disease ISO RGD:735982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8759671 Mitf melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:7240710 20240313 OMIM 8759671 Mitf melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28376192|PMID:28492532|PMID:29706638|PMID:30414346 8759671 Mitf melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 PMID:17576681|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:9536098 8759671 Mitf melanocyte inducing transcription factor gene DOID:6846 familial melanoma ISO RGD:735982 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 PMID:17576681|PMID:20127975|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28690485|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30311386|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34142234|PMID:34289891|PMID:34662886|PMID:34997062|PMID:8659547|PMID:9536098 8759671 Mitf melanocyte inducing transcription factor gene DOID:9000714 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS ISO RGD:735982 D RGD:7240710 20240313 OMIM 8759671 Mitf melanocyte inducing transcription factor gene DOID:9000714 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS ISO RGD:735982 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness PMID:16199547|PMID:20127975|PMID:25741868|PMID:27889061|PMID:28492532|PMID:30311386|PMID:34599368|PMID:8659547 8759671 Mitf melanocyte inducing transcription factor gene DOID:9002843 Waardenburg Syndrome Type 2 ISO RGD:735982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2 PMID:17576681|PMID:21373256|PMID:28492532|PMID:30117279|PMID:35802133|PMID:36633841|PMID:9536098 8759671 Mitf melanocyte inducing transcription factor gene DOID:9004538 Hearing Loss ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:8659547|PMID:9856573 8759671 Mitf melanocyte inducing transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735982 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33240314 8759671 Mitf melanocyte inducing transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735982 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25975176|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886 8759671 Mitf melanocyte inducing transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735982 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:22012259|PMID:22080950|PMID:22158021|PMID:23167872|PMID:23774529|PMID:23787126|PMID:23802662|PMID:24033266|PMID:24290354|PMID:24352080|PMID:24406078|PMID:2440678|PMID:24638154|PMID:24660985|PMID:24767713|PMID:25407435|PMID:25741868|PMID:25803691|PMID:25943250|PMID:25975176|PMID:26103950|PMID:26467025|PMID:26650189|PMID:26775776|PMID:26800492|PMID:26999813|PMID:27153395|PMID:27473757|PMID:27680874|PMID:28125078|PMID:28152038|PMID:28376192|PMID:28492532|PMID:28825054|PMID:29506128|PMID:29706638|PMID:30414346|PMID:31465090|PMID:32054529|PMID:33051548|PMID:33240314|PMID:34289891|PMID:34662886|PMID:9536098 8759671 Mitf melanocyte inducing transcription factor gene DOID:9007388 Heterochromia Iridis ISO RGD:735982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterochromia iridis PMID:25741868|PMID:8659547|PMID:9856573 8759671 Mitf melanocyte inducing transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 8759671 Mitf melanocyte inducing transcription factor gene DOID:9008681 Deafness ISO RGD:735982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9158138 8759671 Mitf melanocyte inducing transcription factor gene DOID:9258 Waardenburg syndrome ISO RGD:735982 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:30311386 8759701 Parp16 poly(ADP-ribose) polymerase family member 16 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8759701 Parp16 poly(ADP-ribose) polymerase family member 16 gene DOID:2717 Bloom syndrome ISO RGD:1350046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8759701 Parp16 poly(ADP-ribose) polymerase family member 16 gene DOID:630 genetic disease ISO RGD:1350046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759701 Parp16 poly(ADP-ribose) polymerase family member 16 gene DOID:9256 colorectal cancer ISO RGD:1350046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8759711 CUNH1orf43 chromosome unknown C1orf43 homolog gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8759711 CUNH1orf43 chromosome unknown C1orf43 homolog gene DOID:0080600 COVID-19 ISO RGD:1603678 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8759711 CUNH1orf43 chromosome unknown C1orf43 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8759711 CUNH1orf43 chromosome unknown C1orf43 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8759711 CUNH1orf43 chromosome unknown C1orf43 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8759711 CUNH1orf43 chromosome unknown C1orf43 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8759711 CUNH1orf43 chromosome unknown C1orf43 homolog gene DOID:5812 MHC class II deficiency ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8759711 CUNH1orf43 chromosome unknown C1orf43 homolog gene DOID:630 genetic disease ISO RGD:1603678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759711 CUNH1orf43 chromosome unknown C1orf43 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1344496 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1344496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:0110266 cataract 9 multiple types ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:0110540 autosomal recessive nonsyndromic deafness 98 ISO RGD:1344496 D RGD:7240710 20180130 OMIM 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:0110540 autosomal recessive nonsyndromic deafness 98 ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 98 PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:34042254 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:0111662 ectodermal dysplasia 14 ISO RGD:1344496 D RGD:7240710 20190315 OMIM 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:0111662 ectodermal dysplasia 14 ISO RGD:1344496 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis | ClinVar Annotator: match by term: TSPEAR-related disorder of tooth and hair follicle morphogenesis PMID:17576681|PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:32112661|PMID:34042254|PMID:34556655|PMID:35741818|PMID:9536098 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:12849 autistic disorder ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:2661 myoepithelioma ISO RGD:1344496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:3007 breast ductal carcinoma ISO RGD:1344496 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:25741868 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:630 genetic disease ISO RGD:1344496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:26969326|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:32112661|PMID:34042254 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:9003044 Selective Tooth Agenesis 10 ISO RGD:1344496 D RGD:7240710 20230104 OMIM 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:9003044 Selective Tooth Agenesis 10 ISO RGD:1344496 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 10 PMID:22678063|PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28492532|PMID:29144512|PMID:30046887|PMID:32112661|PMID:34042254 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:9004538 Hearing Loss ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:9263 homocystinuria ISO RGD:1344496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8759728 Tspear thrombospondin type laminin G domain and EAR repeats gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344496 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:0080754 X-linked keratosis follicularis spinulosa decalvans ISO RGD:1342985 D RGD:7240710 20180130 OMIM 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:0080754 X-linked keratosis follicularis spinulosa decalvans ISO RGD:1342985 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked PMID:20672378|PMID:23316014|PMID:25741868|PMID:8745901 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:1342985 D RGD:7240710 20180130 OMIM 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:1342985 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome PMID:10694306|PMID:19361614|PMID:21426410|PMID:22105905|PMID:24090718|PMID:24313295|PMID:25741868|PMID:28492532 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:0111847 osteogenesis imperfecta type 19 ISO RGD:1342985 D RGD:7240710 20190315 OMIM 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:0111847 osteogenesis imperfecta type 19 ISO RGD:1342985 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 19 PMID:25741868|PMID:27380894 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1342985 D RGD:7240710 20180130 OMIM 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1342985 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Olmsted syndrome, X-linked PMID:17367233|PMID:22931912|PMID:25741868|PMID:28492532 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:12347 osteogenesis imperfecta ISO RGD:1342985 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:12849 autistic disorder ISO RGD:1342985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:630 genetic disease ISO RGD:1342985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1342985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 8759748 Mbtps2 membrane bound transcription factor peptidase, site 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8759769 Tmem64 transmembrane protein 64 gene DOID:630 genetic disease ISO RGD:1606436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759777 Dusp15 dual specificity phosphatase 15 gene DOID:630 genetic disease ISO RGD:1314347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759788 S100a16 S100 calcium binding protein A16 gene DOID:0111940 immunodeficiency 42 ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8759788 S100a16 S100 calcium binding protein A16 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8759788 S100a16 S100 calcium binding protein A16 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1315577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8759788 S100a16 S100 calcium binding protein A16 gene DOID:1540 parathyroid carcinoma ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8759788 S100a16 S100 calcium binding protein A16 gene DOID:5812 MHC class II deficiency ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8759788 S100a16 S100 calcium binding protein A16 gene DOID:630 genetic disease ISO RGD:1315577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759788 S100a16 S100 calcium binding protein A16 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8759798 Mok MOK protein kinase gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1319529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8759798 Mok MOK protein kinase gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1319529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:25741868 8759798 Mok MOK protein kinase gene DOID:4450 renal cell carcinoma ISO RGD:1319529 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15900605|REF_RGD_ID:7243170 8759798 Mok MOK protein kinase gene DOID:630 genetic disease ISO RGD:1319529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759798 Mok MOK protein kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23500658 8759817 Irgm immunity related GTPase M gene DOID:0050589 inflammatory bowel disease ISO RGD:1601797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192919 8759817 Irgm immunity related GTPase M gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8759817 Irgm immunity related GTPase M gene DOID:0110890 inflammatory bowel disease 19 ISO RGD:1601797 D RGD:7240710 20180130 OMIM 8759817 Irgm immunity related GTPase M gene DOID:0110890 inflammatory bowel disease 19 ISO RGD:1601797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 19 PMID:17554261|PMID:18985712|PMID:19174780|PMID:21278745|PMID:33116287 8759817 Irgm immunity related GTPase M gene DOID:399 tuberculosis ISO RGD:1601797 D RGD:7240710 20230505 OMIM 8759817 Irgm immunity related GTPase M gene DOID:630 genetic disease ISO RGD:1601797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759817 Irgm immunity related GTPase M gene DOID:8577 ulcerative colitis ISO RGD:1601797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 8759817 Irgm immunity related GTPase M gene DOID:8778 Crohn's disease ISO RGD:1601797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17554261|PMID:18438406|PMID:19165925|PMID:21278745 8759817 Irgm immunity related GTPase M gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8759834 Nudt21 nudix hydrolase 21 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313996 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8759834 Nudt21 nudix hydrolase 21 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313996 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8759834 Nudt21 nudix hydrolase 21 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8759834 Nudt21 nudix hydrolase 21 gene DOID:3910 lung adenocarcinoma ISO RGD:1313996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8759834 Nudt21 nudix hydrolase 21 gene DOID:630 genetic disease ISO RGD:1313996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759834 Nudt21 nudix hydrolase 21 gene DOID:9006205 Animal Disease Models ISO RGD:1313996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:0050696 fetal alcohol spectrum disorder sexual_dimorphism ISO RGD:61276 D RGD:9068941 20240215 RGD associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) PMID:29251811|REF_RGD_ID:401965484 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:734061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:28492532 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:1059 intellectual disability ISO RGD:734061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:10763 hypertension ISO RGD:61276 D RGD:9068941 20200609 RGD corticotropin releasing hormone-induced PMID:11036160|REF_RGD_ID:1581302 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:12918 thromboangiitis obliterans ISO RGD:61276 D RGD:9068941 20200609 RGD mRNA:increased expression:femoral artery (rat) PMID:19572944|REF_RGD_ID:5508315 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:1470 major depressive disorder ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23529111 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:1574 alcohol use disorder ISO RGD:737026 D RGD:9068941 20200609 RGD PMID:11988580|REF_RGD_ID:734822 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:1596 depressive disorder ISO RGD:61276 D RGD:9068941 20200609 RGD PMID:20860876|REF_RGD_ID:5147490 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:2030 anxiety disorder ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22231481|PMID:9299637 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:2773 contact dermatitis ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12631246 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:2841 asthma ISO RGD:734061 D RGD:9068941 20200609 RGD DNA:SNP: :RS242941 (human) PMID:19663668|REF_RGD_ID:5147485 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:2841 asthma ISO RGD:734061 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1876828, rs242939, rs242941 (human) PMID:16113459|REF_RGD_ID:5147488 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:734061 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs242941) (human) PMID:19210659|REF_RGD_ID:11097322 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:3877 functional colonic disease ISO RGD:61276 D RGD:9068941 20200609 RGD PMID:20096320|REF_RGD_ID:5130948 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:4483 rhinitis ISO RGD:734061 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity epithelium PMID:17597629|REF_RGD_ID:5130940 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:630 genetic disease ISO RGD:734061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9001109 Anorexia ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16420149 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:61276 D RGD:9068941 20240215 RGD associated with prenatal exposure delayed effects; mRNA:altered expression: hippocampus (rat) PMID:29251811|REF_RGD_ID:401965484 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:61276 D RGD:9068941 20240222 RGD mRNA:altered expr:brain (rat) PMID:29990678|REF_RGD_ID:401976282 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:61276 D RGD:9068941 20240222 RGD mRNA:altered expr:brain (rat) PMID:29990678|REF_RGD_ID:401976282 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:737026 D RGD:9068941 20200609 RGD PMID:21774994|REF_RGD_ID:5147472 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28434951 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9002362 Hyperkinesis ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19339610 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:61276 D RGD:9068941 20200609 RGD PMID:17550594|REF_RGD_ID:1626231 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9003971 Postoperative Pain ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28434951 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:61276 D RGD:9068941 20200609 RGD mRNA:increased expression:anterior pituitary (rat) PMID:12576179|REF_RGD_ID:5508175 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19339610 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9007877 Fetal Hypoxia ISO RGD:61276 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus of hypothalamus (rat) PMID:19409200|REF_RGD_ID:5491006 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:734061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9255 frontotemporal dementia ISO RGD:734061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:28492532 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:61276 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus (rat) PMID:20472052|REF_RGD_ID:5507823 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9778 irritable bowel syndrome ISO RGD:61276 D RGD:9068941 20200609 RGD protein:increased expression:distal colon (rat) PMID:20096320|REF_RGD_ID:5130948 8759849 Crhr1 corticotropin releasing hormone receptor 1 gene DOID:9970 obesity ISO RGD:734061 D RGD:9068941 20200609 RGD DNA:SNP:CDS:861C>T (human) PMID:14724656|REF_RGD_ID:1626226 8759866 Atg7 autophagy related 7 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1558502 D RGD:9068941 20220825 MouseDO OMIM:614286 8759866 Atg7 autophagy related 7 gene DOID:0070412 autosomal recessive spinocerebellar ataxia 31 ISO RGD:1312481 D RGD:7240710 20210728 OMIM 8759866 Atg7 autophagy related 7 gene DOID:0070412 autosomal recessive spinocerebellar ataxia 31 ISO RGD:1312481 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 PMID:25741868|PMID:34161705|PMID:35405176 8759866 Atg7 autophagy related 7 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1312481 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: NAFLD1 PMID:25741868|PMID:35405176 8759866 Atg7 autophagy related 7 gene DOID:10763 hypertension ISO RGD:1304817 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:24119246|REF_RGD_ID:11557985 8759866 Atg7 autophagy related 7 gene DOID:1289 neurodegenerative disease ISO RGD:1304817 D RGD:9068941 20200609 RGD PMID:26208597|REF_RGD_ID:11557995 8759866 Atg7 autophagy related 7 gene DOID:14330 Parkinson's disease ISO RGD:1558502 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 8759866 Atg7 autophagy related 7 gene DOID:2355 anemia ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 8759866 Atg7 autophagy related 7 gene DOID:3070 high grade glioma treatment ISO RGD:1304817 D RGD:9068941 20200609 RGD PMID:25542083|REF_RGD_ID:11557994 8759866 Atg7 autophagy related 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1312481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8759866 Atg7 autophagy related 7 gene DOID:5844 myocardial infarction ISO RGD:1304817 D RGD:9068941 20200609 RGD mRNA:increased expression:plantaris PMID:24427319|REF_RGD_ID:11557988 8759866 Atg7 autophagy related 7 gene DOID:607 paraplegia ISO RGD:1304817 D RGD:9068941 20200609 RGD PMID:23055316|REF_RGD_ID:11557990 8759866 Atg7 autophagy related 7 gene DOID:614 lymphopenia ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 8759866 Atg7 autophagy related 7 gene DOID:630 genetic disease ISO RGD:1312481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759866 Atg7 autophagy related 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29191453 8759866 Atg7 autophagy related 7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1304817 D RGD:9068941 20200609 RGD protein:increased expression:axon PMID:25040536|REF_RGD_ID:11553820 8759866 Atg7 autophagy related 7 gene DOID:9001981 Weight Loss ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 8759866 Atg7 autophagy related 7 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1558502 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 8759866 Atg7 autophagy related 7 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28408137 8759866 Atg7 autophagy related 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8759866 Atg7 autophagy related 7 gene DOID:9005369 Hepatomegaly ISO RGD:1312481 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 8759866 Atg7 autophagy related 7 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1558502 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:24874076|REF_RGD_ID:11557993 8759866 Atg7 autophagy related 7 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1304817 D RGD:9068941 20200609 RGD PMID:24993523|REF_RGD_ID:11557996 8759866 Atg7 autophagy related 7 gene DOID:9005749 Necrosis ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21081844 8759866 Atg7 autophagy related 7 gene DOID:9007874 Liver Failure ISO RGD:1312481 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 8759866 Atg7 autophagy related 7 gene DOID:9008617 Lethargy ISO RGD:1312481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 8759866 Atg7 autophagy related 7 gene DOID:9074 systemic lupus erythematosus ISO RGD:1558502 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8759889 Tamalin trafficking regulator and scaffold protein tamalin gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8759889 Tamalin trafficking regulator and scaffold protein tamalin gene DOID:630 genetic disease ISO RGD:733545 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759906 LOC102019331 olfactory receptor 11H4 gene DOID:630 genetic disease ISO RGD:1345740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759915 Dock4 dedicator of cytokinesis 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1350295 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:20346443|PMID:25741868|PMID:31388105|PMID:32009906 8759915 Dock4 dedicator of cytokinesis 4 gene DOID:12849 autistic disorder ISO RGD:1350295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8759915 Dock4 dedicator of cytokinesis 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8759915 Dock4 dedicator of cytokinesis 4 gene DOID:5419 schizophrenia ISO RGD:1350295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8759915 Dock4 dedicator of cytokinesis 4 gene DOID:630 genetic disease ISO RGD:1350295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759915 Dock4 dedicator of cytokinesis 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8759983 Nipa2 NIPA magnesium transporter 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 8759983 Nipa2 NIPA magnesium transporter 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1348761 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 8759983 Nipa2 NIPA magnesium transporter 2 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 PMID:17268193|PMID:23032108|PMID:25689425|PMID:28492532 8759983 Nipa2 NIPA magnesium transporter 2 gene DOID:1059 intellectual disability ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8759983 Nipa2 NIPA magnesium transporter 2 gene DOID:12849 autistic disorder ISO RGD:1348761 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 8759983 Nipa2 NIPA magnesium transporter 2 gene DOID:1932 Angelman syndrome ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 8759983 Nipa2 NIPA magnesium transporter 2 gene DOID:5419 schizophrenia ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8759983 Nipa2 NIPA magnesium transporter 2 gene DOID:630 genetic disease ISO RGD:1348761 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8759983 Nipa2 NIPA magnesium transporter 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 8759997 Uroc1 urocanate hydratase 1 gene DOID:0112180 urocanase deficiency ISO RGD:1347314 D RGD:7240710 20180130 OMIM 8759997 Uroc1 urocanate hydratase 1 gene DOID:0112180 urocanase deficiency ISO RGD:1347314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Urocanate hydratase deficiency PMID:18414213|PMID:19304569|PMID:25741868|PMID:28492532 8759997 Uroc1 urocanate hydratase 1 gene DOID:1059 intellectual disability ISO RGD:1347314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19304569 8759997 Uroc1 urocanate hydratase 1 gene DOID:630 genetic disease ISO RGD:1347314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8759997 Uroc1 urocanate hydratase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8759997 Uroc1 urocanate hydratase 1 gene DOID:9004866 Ataxia ISO RGD:1347314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19304569 8759997 Uroc1 urocanate hydratase 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8759997 Uroc1 urocanate hydratase 1 gene DOID:9270 alkaptonuria ISO RGD:1347314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8760021 Foxa1 forkhead box A1 gene DOID:0060108 brain glioma disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:23510544|REF_RGD_ID:151665742 8760021 Foxa1 forkhead box A1 gene DOID:10534 stomach cancer ISO RGD:1605727 D RGD:9068941 20220331 RGD protein:decreased expression:stomach PMID:29129808|REF_RGD_ID:151665756 8760021 Foxa1 forkhead box A1 gene DOID:10534 stomach cancer ameliorates ISO RGD:1354161 D RGD:9068941 20220331 RGD PMID:31046116|REF_RGD_ID:151665744 8760021 Foxa1 forkhead box A1 gene DOID:10534 stomach cancer ameliorates ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:29129808|REF_RGD_ID:151665756 8760021 Foxa1 forkhead box A1 gene DOID:1324 lung cancer disease_progression ISO RGD:1322513 D RGD:9068941 20220407 RGD PMID:31221478|REF_RGD_ID:151665930 8760021 Foxa1 forkhead box A1 gene DOID:1520 colon carcinoma disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:33296605|REF_RGD_ID:151665748 8760021 Foxa1 forkhead box A1 gene DOID:1612 breast cancer disease_progression ISO RGD:1349130 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 8760021 Foxa1 forkhead box A1 gene DOID:1749 squamous cell carcinoma ISO RGD:1605727 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32717239 8760021 Foxa1 forkhead box A1 gene DOID:234 colon adenocarcinoma ISO RGD:1605727 D RGD:9068941 20220331 RGD mRNA:decreased expression:colon PMID:32839292|REF_RGD_ID:151665753 8760021 Foxa1 forkhead box A1 gene DOID:3459 breast carcinoma ameliorates ISO RGD:1349130 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 8760021 Foxa1 forkhead box A1 gene DOID:3748 esophagus squamous cell carcinoma onset ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:29788741|REF_RGD_ID:151665759 8760021 Foxa1 forkhead box A1 gene DOID:3748 esophagus squamous cell carcinoma onset ISO RGD:1605727 D RGD:9068941 20220331 RGD DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human) PMID:27050876|REF_RGD_ID:151665743 8760021 Foxa1 forkhead box A1 gene DOID:3905 lung carcinoma ameliorates ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:31221478|REF_RGD_ID:151665930 8760021 Foxa1 forkhead box A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605727 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32717239 8760021 Foxa1 forkhead box A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605727 D RGD:9068941 20220331 RGD mRNA:increased expression:lung PMID:26909612|REF_RGD_ID:151665747 8760021 Foxa1 forkhead box A1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:26658322|REF_RGD_ID:11554787 8760021 Foxa1 forkhead box A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1605727 D RGD:9068941 20220407 RGD mRNA:increased expression:lung PMID:12234996|PMID:29072684|REF_RGD_ID:151665758|REF_RGD_ID:151665822 8760021 Foxa1 forkhead box A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1605727 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34254728 8760021 Foxa1 forkhead box A1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1605727 D RGD:9068941 20220331 RGD protein:increased expression:esophagus PMID:12234996|REF_RGD_ID:151665758 8760021 Foxa1 forkhead box A1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:22383183|REF_RGD_ID:151665760 8760021 Foxa1 forkhead box A1 gene DOID:630 genetic disease ISO RGD:1605727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760021 Foxa1 forkhead box A1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:25965836|REF_RGD_ID:11054501 8760021 Foxa1 forkhead box A1 gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1605727 D RGD:9068941 20220407 RGD protein:decreased expression:liver PMID:29208003|REF_RGD_ID:151665820 8760021 Foxa1 forkhead box A1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605727 D RGD:9068941 20220331 RGD DNA:VNTR, SNPs, haplotypes:multiple: PMID:31400761|REF_RGD_ID:151665752 8760021 Foxa1 forkhead box A1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605727 D RGD:9068941 20220331 RGD associated with lung non-small cell carcinoma; mRNA:increased expression: : PMID:29115441|REF_RGD_ID:151665751 8760021 Foxa1 forkhead box A1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605727 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:22610119|PMID:26457646|PMID:29295717|PMID:29610475|PMID:32690948 8760021 Foxa1 forkhead box A1 gene DOID:9004610 Acute Lung Injury ISO RGD:2807 D RGD:9068941 20220331 RGD mRNA,protein:increased expression:lung PMID:19649697|REF_RGD_ID:151665511 8760021 Foxa1 forkhead box A1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1605727 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8760021 Foxa1 forkhead box A1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605727 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32717239 8760021 Foxa1 forkhead box A1 gene DOID:9008138 Ductal Carcinoma ISO RGD:1605727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 8760021 Foxa1 forkhead box A1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23001124 8760021 Foxa1 forkhead box A1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1605727 D RGD:9068941 20220331 RGD PMID:27484093|PMID:31081047|REF_RGD_ID:151665746|REF_RGD_ID:151665754 8760021 Foxa1 forkhead box A1 gene DOID:9452 steatotic liver disease ISO RGD:1605727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 8760026 Krt39 keratin 39 gene DOID:630 genetic disease ISO RGD:1604916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760038 Abhd1 abhydrolase domain containing 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1322201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8760038 Abhd1 abhydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1322201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760058 Eno3 enolase 3 gene DOID:0050941 spastic ataxia 2 ISO RGD:732414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 8760058 Eno3 enolase 3 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:732414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 8760058 Eno3 enolase 3 gene DOID:1712 aortic valve stenosis ISO RGD:2555 D RGD:9068941 20200609 RGD mRNA:decreased expression:cardiac muscle cell PMID:8594891|REF_RGD_ID:2301765 8760058 Eno3 enolase 3 gene DOID:409 liver disease ISO RGD:732414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8760058 Eno3 enolase 3 gene DOID:630 genetic disease ISO RGD:732414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8760058 Eno3 enolase 3 gene DOID:9005328 Glycogen Storage Disease XIII ISO RGD:732414 D RGD:7240710 20180130 OMIM 8760058 Eno3 enolase 3 gene DOID:9005328 Glycogen Storage Disease XIII ISO RGD:732414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Enolase 3 deficiency | ClinVar Annotator: match by term: Enolase-beta deficiency PMID:11506403|PMID:16199547|PMID:17576681|PMID:18070103|PMID:25267339|PMID:25741868|PMID:28492532|PMID:31741825|PMID:33004838|PMID:9536098 8760078 Aurkb aurora kinase B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8760078 Aurkb aurora kinase B gene DOID:0080600 COVID-19 ISO RGD:731309 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8760078 Aurkb aurora kinase B gene DOID:12177 common variable immunodeficiency ISO RGD:731309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8760078 Aurkb aurora kinase B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731309 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8760078 Aurkb aurora kinase B gene DOID:2729 dyskeratosis congenita ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8760078 Aurkb aurora kinase B gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:731309 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:16311121|REF_RGD_ID:2293878 8760078 Aurkb aurora kinase B gene DOID:2986 IgA glomerulonephritis ISO RGD:731309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8760078 Aurkb aurora kinase B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8760078 Aurkb aurora kinase B gene DOID:630 genetic disease ISO RGD:731309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760078 Aurkb aurora kinase B gene DOID:684 hepatocellular carcinoma ISO RGD:731309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8760078 Aurkb aurora kinase B gene DOID:8634 prostate carcinoma in situ ISO RGD:731309 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 8760078 Aurkb aurora kinase B gene DOID:9000217 Stomach Neoplasms ISO RGD:731309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993841 8760078 Aurkb aurora kinase B gene DOID:9002304 Prostatic Neoplasms ISO RGD:731309 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 8760078 Aurkb aurora kinase B gene DOID:9002304 Prostatic Neoplasms ISO RGD:731310 D RGD:9068941 20200609 RGD PMID:16707419|REF_RGD_ID:2293877 8760078 Aurkb aurora kinase B gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:731309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 8760097 Bmerb1 bMERB domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1345550 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8760097 Bmerb1 bMERB domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8760097 Bmerb1 bMERB domain containing 1 gene DOID:1826 epilepsy ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8760097 Bmerb1 bMERB domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8760097 Bmerb1 bMERB domain containing 1 gene DOID:8445 intestinal volvulus ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8760097 Bmerb1 bMERB domain containing 1 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 8760097 Bmerb1 bMERB domain containing 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1345550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8760110 St6galnac3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1345799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 8760110 St6galnac3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1345799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760122 Mboat4 membrane bound O-acyltransferase domain containing 4 gene DOID:630 genetic disease ISO RGD:1602605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0050852 limb ischemia treatment ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:25388665|REF_RGD_ID:11568031 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0050902 medulloblastoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:10766980|PMID:23819449|PMID:25705862|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068|PMID:33448156 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0060321 umbilical hernia ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:21238647|REF_RGD_ID:11567270 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0060597 atypical chronic myeloid leukemia ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:15050920|REF_RGD_ID:11352668 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0070004 myeloid neoplasm ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21936542|PMID:22875613 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0070004 myeloid neoplasm ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:12969958|REF_RGD_ID:11352667 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0070004 myeloid neoplasm treatment ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:15448205|REF_RGD_ID:11352309 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:732290 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:10766980|PMID:23819449|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:19506298|REF_RGD_ID:11352666 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:12627230|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:12627230|PMID:16882753|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:732290 D RGD:7240710 20180130 OMIM 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:732290 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 2 PMID:10629055|PMID:10690855|PMID:10861678|PMID:10942429|PMID:11173846|PMID:12627230|PMID:14513299|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15365636|PMID:15605412|PMID:15625620|PMID:15793702|PMID:16199547|PMID:16418210|PMID:16470795|PMID:16606836|PMID:16757108|PMID:16764984|PMID:16882753|PMID:16957473|PMID:17154279|PMID:17200176|PMID:17235395|PMID:17360555|PMID:17530415|PMID:17576681|PMID:17963255|PMID:18034870|PMID:18160472|PMID:18596921|PMID:18985070|PMID:19489874|PMID:19707180|PMID:19820032|PMID:20079901|PMID:20536592|PMID:20696889|PMID:21209029|PMID:21247312|PMID:21700882|PMID:22035731|PMID:22249004|PMID:22319038|PMID:22378383|PMID:23154428|PMID:23329143|PMID:23348397|PMID:23533228|PMID:23643382|PMID:23657145|PMID:23812909|PMID:24031091|PMID:24127277|PMID:24204987|PMID:24497711|PMID:24759409|PMID:25064402|PMID:25077900|PMID:25157968|PMID:25251565|PMID:25383892|PMID:25394172|PMID:25425165|PMID:25501157|PMID:25636053|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26708526|PMID:26931467|PMID:26942290|PMID:27170295|PMID:27246988|PMID:27363716|PMID:27502037|PMID:27596331|PMID:27884173|PMID:27884859|PMID:28008864|PMID:28492532|PMID:28754744|PMID:28833369|PMID:28915117|PMID:29168297|PMID:30098700|PMID:30143558|PMID:31200363|PMID:31475041|PMID:31605817|PMID:31748124|PMID:31837199|PMID:31996231|PMID:32666525|PMID:32724172|PMID:32853167|PMID:33337535|PMID:33442024|PMID:33448156|PMID:33532864|PMID:33548149|PMID:33983622|PMID:34342100|PMID:34348883|PMID:35738466|PMID:6881209|PMID:7795583|PMID:7874169|PMID:8948562|PMID:9536098 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:732290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:732290 D RGD:7240710 20180130 OMIM 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome PMID:10861678|PMID:10942429|PMID:1456217|PMID:14564217|PMID:14613973|PMID:16957473|PMID:18034870|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25251565|PMID:25741868|PMID:26942290|PMID:28492532|PMID:31837199|PMID:7795583|PMID:7874169 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0111532 osteoglophonic dysplasia ISO RGD:732290 D RGD:7240710 20180130 OMIM 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0111532 osteoglophonic dysplasia ISO RGD:732290 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fairbank-Keats syndrome | ClinVar Annotator: match by term: Osteoglophonic dysplasia PMID:10629055|PMID:12627230|PMID:12952917|PMID:15365636|PMID:15605412|PMID:15625620|PMID:16470795|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:17963255|PMID:18160472|PMID:18985070|PMID:19707180|PMID:20696889|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25383892|PMID:25425165|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26708526|PMID:26931467|PMID:27884173|PMID:28492532|PMID:35738466|PMID:9536098 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:732290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:24027026|REF_RGD_ID:13504747 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:9748519|REF_RGD_ID:10402073 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:10754 otitis media ISO RGD:732291 D RGD:9068941 20220825 MouseDO OMIM:166760 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA:increased expression:neuron: PMID:8971765|REF_RGD_ID:10402092 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:11832 visual epilepsy ISO RGD:620713 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex,hippocampus,neuron, astrocyrte: PMID:8072686|REF_RGD_ID:10402045 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:12689 acoustic neuroma disease_progression ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:15354013|REF_RGD_ID:11567268 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:7874169|REF_RGD_ID:11567243 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P252R (human) PMID:25251565|REF_RGD_ID:11567271 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:13938 amenorrhea ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:732290 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:25741868|PMID:28492532 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:14705 Pfeiffer syndrome ISO RGD:732290 D RGD:7240710 20180130 OMIM 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:14705 Pfeiffer syndrome ISO RGD:732290 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1 PMID:10861678|PMID:10942429|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15605412|PMID:16764984|PMID:16957473|PMID:18034870|PMID:23643382|PMID:23657145|PMID:23812909|PMID:24127277|PMID:24497711|PMID:25064402|PMID:25251565|PMID:25741868|PMID:26931467|PMID:26942290|PMID:28492532|PMID:28754744|PMID:31837199|PMID:7795583|PMID:7874169 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:14705 Pfeiffer syndrome ISO RGD:732290 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1 PMID:10861678|PMID:10942429|PMID:1456217|PMID:14564217|PMID:14613973|PMID:15605412|PMID:16757108|PMID:16764984|PMID:16957473|PMID:18034870|PMID:20536592|PMID:23643382|PMID:23657145|PMID:23812909|PMID:24031091|PMID:24127277|PMID:24497711|PMID:25064402|PMID:25251565|PMID:25741868|PMID:26931467|PMID:26942290|PMID:28492532|PMID:28754744|PMID:31748124|PMID:31837199|PMID:33983622|PMID:7795583|PMID:7874169 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:1596 depressive disorder ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861106 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286583|PMID:27794399 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:1921 Klinefelter syndrome ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:12627230|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:1924 hypogonadism ISO RGD:732290 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:25741868 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:224 transient cerebral ischemia ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex: PMID:8858623|REF_RGD_ID:10402044 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:2340 craniosynostosis ISO RGD:732290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific PMID:15605412|PMID:16764984|PMID:23657145|PMID:25064402|PMID:25741868|PMID:26931467|PMID:28492532 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:18068632|PMID:23576558|REF_RGD_ID:13504748|REF_RGD_ID:2298702 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:3068 glioblastoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:3070 high grade glioma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma PMID:10766980|PMID:23819449|PMID:25705862|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068|PMID:33448156 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:3213 demyelinating disease ISO RGD:732291 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:11020217|REF_RGD_ID:8655565 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:3614 Kallmann syndrome ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:25741868 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10766980|PMID:23819449|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286583|PMID:27794399 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:23806793|REF_RGD_ID:25330355 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:403 mouth disease treatment ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:14699553|REF_RGD_ID:10402103 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:4079 heart valve disease ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008375 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:25900027|REF_RGD_ID:11352663 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:4621 holoprosencephaly ISO RGD:732290 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly | ClinVar Annotator: match by term: Semilobar holoprosencephaly PMID:12627230|PMID:16199547|PMID:17154279|PMID:17530415|PMID:18034870|PMID:23812909|PMID:25741868|PMID:26931467|PMID:26942290|PMID:27363716|PMID:28492532|PMID:31200363 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA:increased expression:mesangial cell PMID:10592054|REF_RGD_ID:10402100 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:4845 pilomyxoid astrocytoma ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pilomyxoid astrocytoma PMID:25705862|PMID:25741868|PMID:26619011|PMID:26942290|PMID:28492532|PMID:33448156 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:5015 fibrolamellar carcinoma ISO RGD:732290 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:24925055|REF_RGD_ID:11055933 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:5223 infertility ISO RGD:732290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infertility PMID:25741868 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:5327 retinal detachment ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:layer of retina: PMID:10670490|REF_RGD_ID:10402077 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:5419 schizophrenia ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861106 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:5844 myocardial infarction ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:17439742|REF_RGD_ID:10402087 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:607 paraplegia ISO RGD:732290 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:630 genetic disease ISO RGD:732290 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16882753|PMID:25741868|PMID:28492532 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:19197140|REF_RGD_ID:2315911 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:674 cleft palate ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:21573021|REF_RGD_ID:25440476 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:769 neuroblastoma ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:10766980|PMID:23819449|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:8398 osteoarthritis ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:22393163|REF_RGD_ID:10402075 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:18068632|REF_RGD_ID:2298702 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:8692 myeloid leukemia ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:19506298|REF_RGD_ID:11352666 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:8725 vascular dementia treatment ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:22500404|REF_RGD_ID:10402076 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9000067 Congenital Foot Deformities ISO RGD:732290 D RGD:9068941 20200609 RGD associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple PMID:25394172|REF_RGD_ID:11098154 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9000290 Stargardt Disease 3 ISO RGD:732291 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:optic cup: PMID:22199241|REF_RGD_ID:10402074 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9000955 Acute Otitis Media ISO RGD:732291 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732291 D RGD:9068941 20200609 RGD associated with prostate adenocarcinoma PMID:23576558|REF_RGD_ID:13504748 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9001036 Penetrating Head Injuries ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:astrocyte,macrophage,neutrophil: PMID:11168551|REF_RGD_ID:10402049 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9001239 Delayed Puberty ISO RGD:732290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:12627230|PMID:16606836|PMID:17200176|PMID:25636053|PMID:25741868|PMID:28492532|PMID:32853167|PMID:33548149 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:21543745|REF_RGD_ID:25440477 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9001871 Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations: :multiple PMID:16882753|REF_RGD_ID:11567239 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9001871 Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) PMID:15845591|REF_RGD_ID:11567240 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9001871 Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations:exon:multiple PMID:16764984|REF_RGD_ID:11567241 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:9183688|REF_RGD_ID:8655640 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:22833219|REF_RGD_ID:10402072 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9002514 Neointima ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:15072997|REF_RGD_ID:10402089 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:25705862|PMID:26619011|PMID:26942290|PMID:33448156 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9004210 Tympanic Membrane Perforation ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:21590482|REF_RGD_ID:10402099 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:22833219|REF_RGD_ID:10402072 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9004441 Experimental Leukemia treatment ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:22781593|REF_RGD_ID:11352669 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9004955 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate ISO RGD:732290 D RGD:7240710 20180130 OMIM 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9004955 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate ISO RGD:732290 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hartsfield syndrome PMID:15605412|PMID:16757108|PMID:16764984|PMID:19504604|PMID:20536592|PMID:23657145|PMID:23812909|PMID:24031091|PMID:24204987|PMID:24888332|PMID:25064402|PMID:25326635|PMID:25741868|PMID:26931467|PMID:28492532|PMID:31474318|PMID:31748124|PMID:33983622 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9006618 Liver Metastasis ISO RGD:732290 D RGD:9068941 20200609 RGD associated with colorectal cancer;mRNA:increased expression:colorectal mucosa: PMID:19082464|REF_RGD_ID:25330357 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9007261 Nonsyndromic Trigonocephaly ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly, nonsyndromic 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9007632 Encephalocraniocutaneous Lipomatosis ISO RGD:732290 D RGD:7240710 20190315 OMIM 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9007632 Encephalocraniocutaneous Lipomatosis ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis PMID:10766980|PMID:23819449|PMID:25705862|PMID:25741868|PMID:26619011|PMID:26822237|PMID:26942290|PMID:27626068|PMID:28492532|PMID:33448156 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9007730 Burns ISO RGD:620713 D RGD:9068941 20200609 RGD protein:increased expression:epidermis: PMID:9204964|REF_RGD_ID:10402083 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:10629055|PMID:12627230|PMID:15365636|PMID:15605412|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:17963255|PMID:18160472|PMID:18985070|PMID:19707180|PMID:20696889|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25383892|PMID:25425165|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26931467|PMID:27884173|PMID:28492532|PMID:9536098 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9008388 Trigonocephaly 1 ISO RGD:732290 D RGD:7240710 20180130 OMIM 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9008388 Trigonocephaly 1 ISO RGD:732290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly 1 PMID:10629055|PMID:11173846|PMID:12627230|PMID:14513299|PMID:15365636|PMID:15605412|PMID:15793702|PMID:16764984|PMID:17154279|PMID:17360555|PMID:17576681|PMID:17963255|PMID:18160472|PMID:18985070|PMID:19707180|PMID:20696889|PMID:22378383|PMID:23329143|PMID:23348397|PMID:23657145|PMID:24031091|PMID:25064402|PMID:25383892|PMID:25425165|PMID:25741868|PMID:25759380|PMID:26467025|PMID:26931467|PMID:27884173|PMID:28492532|PMID:9536098 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12514106 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732291 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P250R (mouse) PMID:21538817|REF_RGD_ID:11251832 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9008763 Femoral Fractures ISO RGD:620713 D RGD:9068941 20200609 RGD PMID:11704499|REF_RGD_ID:11567258 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179196|PMID:21936542 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:23777766|PMID:27005999|REF_RGD_ID:11352310|REF_RGD_ID:11352670 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:22683780|REF_RGD_ID:11352665 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9296 cleft lip ISO RGD:732290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9296 cleft lip ISO RGD:732290 D RGD:9068941 20200609 RGD DNA:SNP: :rs13317 (human) PMID:24613087|REF_RGD_ID:11567264 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732291 D RGD:9068941 20200609 RGD PMID:22174314|REF_RGD_ID:10401888 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9452 steatotic liver disease severity ISO RGD:732290 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9970 obesity ISO RGD:620713 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus: PMID:21430024|REF_RGD_ID:10402094 8760138 Fgfr1 fibroblast growth factor receptor 1 gene DOID:9970 obesity ISO RGD:732290 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue: PMID:21430024|REF_RGD_ID:10402094 8760164 Kmt5c lysine methyltransferase 5C gene DOID:630 genetic disease ISO RGD:1346503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760164 Kmt5c lysine methyltransferase 5C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305226 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:21357467|REF_RGD_ID:9586742 8760164 Kmt5c lysine methyltransferase 5C gene DOID:916 liver benign neoplasm disease_progression ISO RGD:1305226 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:16497704|REF_RGD_ID:9586726 8760196 Rbms1 RNA binding motif single stranded interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1317165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 8760196 Rbms1 RNA binding motif single stranded interacting protein 1 gene DOID:630 genetic disease ISO RGD:1317165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760228 Rpl37 ribosomal protein L37 gene DOID:630 genetic disease ISO RGD:731374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760228 Rpl37 ribosomal protein L37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8760239 Ift43 intraflagellar transport 43 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 8760239 Ift43 intraflagellar transport 43 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 8760239 Ift43 intraflagellar transport 43 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602079 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532|PMID:29068549 8760239 Ift43 intraflagellar transport 43 gene DOID:0080292 retinitis pigmentosa 81 ISO RGD:1602079 D RGD:7240710 20190315 OMIM 8760239 Ift43 intraflagellar transport 43 gene DOID:0080292 retinitis pigmentosa 81 ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 81 PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532|PMID:28973684 8760239 Ift43 intraflagellar transport 43 gene DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly ISO RGD:1602079 D RGD:7240710 20190315 OMIM 8760239 Ift43 intraflagellar transport 43 gene DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly ISO RGD:1602079 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532 8760239 Ift43 intraflagellar transport 43 gene DOID:0080805 cranioectodermal dysplasia 3 ISO RGD:1602079 D RGD:7240710 20180130 OMIM 8760239 Ift43 intraflagellar transport 43 gene DOID:0080805 cranioectodermal dysplasia 3 ISO RGD:1602079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 PMID:17576681|PMID:21378380|PMID:24027799|PMID:25741868|PMID:26489029|PMID:28400947|PMID:28492532|PMID:29896747|PMID:9536098 8760239 Ift43 intraflagellar transport 43 gene DOID:10283 prostate cancer ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8760239 Ift43 intraflagellar transport 43 gene DOID:1059 intellectual disability ISO RGD:1602079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8760239 Ift43 intraflagellar transport 43 gene DOID:630 genetic disease ISO RGD:1602079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8760239 Ift43 intraflagellar transport 43 gene DOID:65 connective tissue disease ISO RGD:1602079 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16199547|PMID:21378380|PMID:25741868|PMID:28400947|PMID:28492532 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:733592 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:24462369|PMID:25293719|PMID:25741868|PMID:28492532|PMID:31406627|PMID:32313153 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 ISO RGD:733592 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 PMID:17576681|PMID:24462369|PMID:25293719|PMID:25741868|PMID:28492532|PMID:31406627|PMID:32313153|PMID:9536098 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:733592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:733592 D RGD:7240710 20180130 OMIM 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:733592 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 | ClinVar Annotator: match by term: STXBP2-related condition PMID:10788461|PMID:16199547|PMID:17576681|PMID:19804848|PMID:19884660|PMID:20102228|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22336081|PMID:22451424|PMID:22791290|PMID:22796692|PMID:23382066|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25564401|PMID:25741868|PMID:25901543|PMID:26451869|PMID:26684649|PMID:27209435|PMID:27379089|PMID:27577878|PMID:27781387|PMID:27848944|PMID:28353193|PMID:28380445|PMID:28399723|PMID:28492532|PMID:28724787|PMID:28748566|PMID:29599780|PMID:29665027|PMID:30104219|PMID:30697212|PMID:30899265|PMID:31130284|PMID:31388699|PMID:31513353|PMID:31976148|PMID:32256442|PMID:32375849|PMID:32531373|PMID:32542393|PMID:32935436|PMID:33162974|PMID:33746956|PMID:34050687|PMID:34249802|PMID:34330684|PMID:34336208|PMID:35296096|PMID:36588876|PMID:36706356|PMID:9536098 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:2213 hemorrhagic disease ISO RGD:733592 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24916509|PMID:25741868|PMID:28399723|PMID:28492532|PMID:32256442|PMID:32935436|PMID:34050687|PMID:36588876|PMID:36706356 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:2218 blood platelet disease ISO RGD:733592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30696774 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733592 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22451424|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25741868|PMID:27577878|PMID:28492532|PMID:29665027|PMID:32542393|PMID:34050687 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733592 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22451424|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25741868|PMID:27577878|PMID:27781387|PMID:28492532|PMID:29665027|PMID:32256442|PMID:32542393|PMID:32935436|PMID:34050687|PMID:34249802|PMID:36588876|PMID:36706356 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733592 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:21881043|PMID:22451424|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25741868|PMID:27577878|PMID:27781387|PMID:28492532|PMID:29665027|PMID:32256442|PMID:32542393|PMID:32935436|PMID:34050687|PMID:34249802|PMID:34330684|PMID:36588876|PMID:36706356 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:3410 carotid artery thrombosis ISO RGD:733592 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30696774 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:733592 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Complex IV deficiency PMID:24462369|PMID:25293719|PMID:25741868|PMID:28492532|PMID:31406627|PMID:32313153 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:630 genetic disease ISO RGD:733592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:733592 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Abnormality of the mitochondrion 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:733592 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis PMID:16199547|PMID:17576681|PMID:19804848|PMID:19884660|PMID:20558610|PMID:20798128|PMID:20823128|PMID:22451424|PMID:22791290|PMID:23382066|PMID:23687090|PMID:24033266|PMID:24194549|PMID:24916509|PMID:25564401|PMID:25741868|PMID:27577878|PMID:28353193|PMID:28492532|PMID:28724787|PMID:32256442|PMID:32375849|PMID:32542393|PMID:32935436|PMID:33746956|PMID:34050687|PMID:34330684|PMID:36588876|PMID:36706356|PMID:9536098 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:733592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis PMID:25293719|PMID:25741868 8760258 Stxbp2 syntaxin binding protein 2 gene DOID:9008217 Hemorrhage ISO RGD:733592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30696774 8760289 Pet100 PET100 homolog gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:5135069 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:24462369|PMID:25293719|PMID:25741868|PMID:28492532|PMID:31406627|PMID:32313153 8760289 Pet100 PET100 homolog gene DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 ISO RGD:5135069 D RGD:7240710 20201111 OMIM 8760289 Pet100 PET100 homolog gene DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 ISO RGD:5135069 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 PMID:17576681|PMID:24462369|PMID:25293719|PMID:25741868|PMID:28492532|PMID:31406627|PMID:32313153|PMID:9536098 8760289 Pet100 PET100 homolog gene DOID:0080490 mucolipidosis type IV ISO RGD:5135069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8760289 Pet100 PET100 homolog gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:5135069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8760289 Pet100 PET100 homolog gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:5135069 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Complex IV deficiency PMID:24462369|PMID:25293719|PMID:25741868|PMID:28492532|PMID:31406627|PMID:32313153 8760289 Pet100 PET100 homolog gene DOID:630 genetic disease ISO RGD:5135069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8760289 Pet100 PET100 homolog gene DOID:700 mitochondrial metabolism disease ISO RGD:5135069 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Abnormality of the mitochondrion 8760289 Pet100 PET100 homolog gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:5135069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis PMID:25293719|PMID:25741868 8760306 Glyatl3 glycine-N-acyltransferase like 3 gene DOID:630 genetic disease ISO RGD:1348263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760319 Cd2 CD2 molecule gene DOID:0060903 thrombosis ISO RGD:10305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16932337 8760319 Cd2 CD2 molecule gene DOID:10283 prostate cancer ISO RGD:10305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8760319 Cd2 CD2 molecule gene DOID:1184 nephrotic syndrome ISO RGD:10305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2465858 8760319 Cd2 CD2 molecule gene DOID:630 genetic disease ISO RGD:10305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760319 Cd2 CD2 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:10305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8760333 Pkm pyruvate kinase M1/2 gene DOID:0080600 COVID-19 ISO RGD:737501 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8760333 Pkm pyruvate kinase M1/2 gene DOID:10763 hypertension treatment ISO RGD:3337 D RGD:9068941 20230720 RGD PMID:31572179|REF_RGD_ID:329956417 8760333 Pkm pyruvate kinase M1/2 gene DOID:11476 osteoporosis ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8760333 Pkm pyruvate kinase M1/2 gene DOID:2717 Bloom syndrome ISO RGD:737501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8760333 Pkm pyruvate kinase M1/2 gene DOID:305 carcinoma ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8760333 Pkm pyruvate kinase M1/2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737501 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32078667 8760333 Pkm pyruvate kinase M1/2 gene DOID:3320 Tay-Sachs disease ISO RGD:737501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8760333 Pkm pyruvate kinase M1/2 gene DOID:630 genetic disease ISO RGD:737501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760333 Pkm pyruvate kinase M1/2 gene DOID:684 hepatocellular carcinoma ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 8760333 Pkm pyruvate kinase M1/2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8760333 Pkm pyruvate kinase M1/2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980|PMID:15654357 8760333 Pkm pyruvate kinase M1/2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8760333 Pkm pyruvate kinase M1/2 gene DOID:9256 colorectal cancer ISO RGD:737501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8760357 Gpr148 G protein-coupled receptor 148 gene DOID:5419 schizophrenia ISO RGD:1347773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8760357 Gpr148 G protein-coupled receptor 148 gene DOID:630 genetic disease ISO RGD:1347773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760357 Gpr148 G protein-coupled receptor 148 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8760364 Btbd7 BTB domain containing 7 gene DOID:0080054 achondrogenesis type IA ISO RGD:1345329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8760364 Btbd7 BTB domain containing 7 gene DOID:0081063 DICER1 syndrome ISO RGD:1345329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 8760364 Btbd7 BTB domain containing 7 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1345329 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 8760364 Btbd7 BTB domain containing 7 gene DOID:630 genetic disease ISO RGD:1345329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760379 Cacul1 CDK2 associated cullin domain 1 gene DOID:630 genetic disease ISO RGD:1317719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760379 Cacul1 CDK2 associated cullin domain 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8760404 Kif14 kinesin family member 14 gene DOID:0050777 Joubert syndrome ISO RGD:1321678 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders 8760404 Kif14 kinesin family member 14 gene DOID:0050777 Joubert syndrome ISO RGD:1321678 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:23308235|PMID:25741868|PMID:28492532|PMID:29343805|PMID:30388224 8760404 Kif14 kinesin family member 14 gene DOID:0080600 COVID-19 ISO RGD:1321678 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8760404 Kif14 kinesin family member 14 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8760404 Kif14 kinesin family member 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1321678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8760404 Kif14 kinesin family member 14 gene DOID:630 genetic disease ISO RGD:1321678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8760404 Kif14 kinesin family member 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1321678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8760404 Kif14 kinesin family member 14 gene DOID:9002190 Meckel Syndrome 12 ISO RGD:1321678 D RGD:7240710 20180130 OMIM 8760404 Kif14 kinesin family member 14 gene DOID:9002190 Meckel Syndrome 12 ISO RGD:1321678 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Meckel syndrome 12 PMID:24128419|PMID:25741868|PMID:28492532 8760404 Kif14 kinesin family member 14 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321678 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8760404 Kif14 kinesin family member 14 gene DOID:9009149 Primary Autosomal Recessive Microcephaly 20 ISO RGD:1321678 D RGD:7240710 20190315 OMIM 8760404 Kif14 kinesin family member 14 gene DOID:9009149 Primary Autosomal Recessive Microcephaly 20 ISO RGD:1321678 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: KIF14-related condition | ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive PMID:16199547|PMID:23308235|PMID:25741868|PMID:28492532|PMID:28892560|PMID:29343805|PMID:30388224 8760404 Kif14 kinesin family member 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8760446 Spata31h1 SPATA31 subfamily H member 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1352942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8760446 Spata31h1 SPATA31 subfamily H member 1 gene DOID:630 genetic disease ISO RGD:1352942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760468 Prss23 serine protease 23 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 8760468 Prss23 serine protease 23 gene DOID:0060844 Norrie disease ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 8760468 Prss23 serine protease 23 gene DOID:0080600 COVID-19 ISO RGD:1346659 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8760468 Prss23 serine protease 23 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1346659 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:12172548|PMID:14507768|PMID:15035989|PMID:15488808|PMID:15733276|PMID:15981244|PMID:17955262|PMID:20340138|PMID:20938005|PMID:21097938|PMID:21681106|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 8760468 Prss23 serine protease 23 gene DOID:1059 intellectual disability ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8760468 Prss23 serine protease 23 gene DOID:13025 retinopathy of prematurity ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinopathy of prematurity PMID:15733276|PMID:25741868|PMID:28492532 8760468 Prss23 serine protease 23 gene DOID:1909 melanoma ISO RGD:1346659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8760468 Prss23 serine protease 23 gene DOID:630 genetic disease ISO RGD:1346659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8760468 Prss23 serine protease 23 gene DOID:7765 Coats disease ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 8760468 Prss23 serine protease 23 gene DOID:8501 fundus dystrophy ISO RGD:1346659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 8760477 Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:4500 hypokalemia ISO RGD:620569 D RGD:9068941 20200609 RGD PMID:9729517|REF_RGD_ID:13838663 8760477 Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:630 genetic disease ISO RGD:734042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760477 Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8760477 Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit gene DOID:9006646 Metabolic Syndrome ISO RGD:620569 D RGD:9068941 20200609 RGD PMID:23320804|REF_RGD_ID:13838660 8760506 Adcy8 adenylate cyclase 8 gene DOID:0060001 withdrawal disorder ISO RGD:733733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 8760506 Adcy8 adenylate cyclase 8 gene DOID:11713 diabetic angiopathy ISO RGD:733733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 8760506 Adcy8 adenylate cyclase 8 gene DOID:3324 mood disorder ISO RGD:733733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19691954 8760506 Adcy8 adenylate cyclase 8 gene DOID:630 genetic disease ISO RGD:733733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760506 Adcy8 adenylate cyclase 8 gene DOID:9002362 Hyperkinesis ISO RGD:733733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 8760533 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:0050144 Kartagener syndrome ISO RGD:1343869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872636 8760533 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:0060254 Robinow syndrome ISO RGD:1558065 D RGD:9068941 20220825 MouseDO 8760533 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1343869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:28492532 8760533 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:0110615 primary ciliary dyskinesia 25 ISO RGD:1343869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DNAAF4-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 25 PMID:12954984|PMID:23872636|PMID:24033266|PMID:24824133|PMID:25186273|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30067075|PMID:30290127|PMID:33760720 8760533 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:0110615 primary ciliary dyskinesia 25 susceptibility ISO RGD:1343869 D RGD:7240710 20240320 OMIM 8760533 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:12336 male infertility ISO RGD:1343869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872636 8760533 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:2717 Bloom syndrome ISO RGD:1343869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8760533 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:4428 dyslexia ISO RGD:1343869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyslexia, susceptibility to, 1 PMID:12954984|PMID:23872636|PMID:24033266|PMID:25741868|PMID:28492532 8760533 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:4428 dyslexia susceptibility ISO RGD:1343869 D RGD:7240710 20240320 OMIM 8760533 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:630 genetic disease ISO RGD:1343869 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8760533 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:9256 colorectal cancer ISO RGD:1343869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8760533 Dnaaf4 dynein axonemal assembly factor 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343869 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:23872636|PMID:24033266|PMID:24824133|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30067075 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0014667 disease of metabolism ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19142110 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0050741 alcohol dependence ISO RGD:734107 D RGD:7240710 20240320 OMIM 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0050741 alcohol dependence disease_progression ISO RGD:734107 D RGD:9068941 20231109 RGD DNA:SNP: :102T>C (rs6313) PMID:23321485|REF_RGD_ID:401900291 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0050741 alcohol dependence no_association ISO RGD:734107 D RGD:9068941 20231111 RGD DNA:SNP:promoter:-1438G>A (rs6311) PMID:19328219|REF_RGD_ID:401900304 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0050741 alcohol dependence treatment ISO RGD:61800 D RGD:9068941 20231118 RGD PMID:8822536|REF_RGD_ID:401900739 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0050742 nicotine dependence severity ISO RGD:734107 D RGD:9068941 20231109 RGD DNA:SNP: :rs6313 PMID:28900078|REF_RGD_ID:401900295 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0050742 nicotine dependence severity ISO RGD:734107 D RGD:9068941 20231123 RGD DNA:SNPs:promoter, CDS:-1438A>G (rs6311), 102T>C (rs6313) PMID:25366721|REF_RGD_ID:401900763 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0050742 nicotine dependence treatment ISO RGD:61800 D RGD:9068941 20231207 RGD PMID:22342986|REF_RGD_ID:401901205 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0060001 withdrawal disorder ISO RGD:61800 D RGD:9068941 20231118 RGD associated with morphine dependence;mRNA:decreased expression:peripheral blood mononuclear cell PMID:18801381|REF_RGD_ID:13464135 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0060001 withdrawal disorder ISO RGD:61800 D RGD:9068941 20231130 RGD mRNA:decreased expression:hippocampus, ventral tegmental area PMID:26031442|REF_RGD_ID:401901090 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0060001 withdrawal disorder ISO RGD:734107 D RGD:9068941 20231111 RGD associated with alcohol dependence PMID:19060480|REF_RGD_ID:401900293 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0060001 withdrawal disorder treatment ISO RGD:61800 D RGD:9068941 20231123 RGD associated with Cocaine-Related Disorders PMID:12398913|REF_RGD_ID:401900759 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0060001 withdrawal disorder treatment ISO RGD:62092 D RGD:9068941 20231118 RGD PMID:28082900|REF_RGD_ID:401900741 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:62092 D RGD:9068941 20231116 RGD PMID:35732081|REF_RGD_ID:401900606 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:0080546 non-alcoholic fatty liver ISO RGD:734107 D RGD:9068941 20231111 RGD associated with morbid obesity;mRNA:decreased expression:liver PMID:33081272|REF_RGD_ID:401900305 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:10652 Alzheimer's disease treatment ISO RGD:61800 D RGD:9068941 20231130 RGD PMID:26889223|REF_RGD_ID:401901085 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:10763 hypertension no_association ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism: :g.102T>C PMID:15659047|REF_RGD_ID:1624371 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:10763 hypertension susceptibility ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism: :102T>C PMID:11378836|REF_RGD_ID:1624375 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:10933 obsessive-compulsive disorder ISO RGD:734107 D RGD:7240710 20240320 OMIM 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:10933 obsessive-compulsive disorder ISO RGD:734107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obsessive-compulsive disorder, susceptibility to PMID:12476319|PMID:15364038|PMID:9635956 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:11206 opioid abuse ISO RGD:62092 D RGD:9068941 20231111 RGD mRNA:altered expression:striatum PMID:30059705|REF_RGD_ID:401900306 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:12399 pathological gambling ISO RGD:734107 D RGD:9068941 20231116 RGD DNA:SNP: :102T>C (rs6313) PMID:22740152|REF_RGD_ID:401900607 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:12849 autistic disorder ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17280648 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:13948 bladder neck obstruction ISO RGD:61800 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:23344575|REF_RGD_ID:7257660 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:1470 major depressive disorder ISO RGD:734107 D RGD:7240710 20240320 OMIM 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:1561 cognitive disorder ISO RGD:734107 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:1574 alcohol use disorder ISO RGD:61800 D RGD:9068941 20231109 RGD mRNA, protein:decreased expression:cerebral cortex, liver PMID:20501057|REF_RGD_ID:401900301 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:1574 alcohol use disorder ISO RGD:61800 D RGD:9068941 20231118 RGD PMID:9347075|REF_RGD_ID:401900740 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:1574 alcohol use disorder ISO RGD:61800 D RGD:9068941 20231118 RGD protein:increased expression:dorsal raphe, nucleus accumbens PMID:9347073|REF_RGD_ID:401900742 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:1574 alcohol use disorder ISO RGD:734107 D RGD:9068941 20231005 CTD CTD Direct Evidence: marker/mechanism 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:1574 alcohol use disorder treatment ISO RGD:61800 D RGD:9068941 20231123 RGD PMID:9631953|REF_RGD_ID:401900760 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:1596 depressive disorder treatment ISO RGD:61800 D RGD:9068941 20231207 RGD PMID:18239281|PMID:30628811|REF_RGD_ID:401900757|REF_RGD_ID:401901207 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:2468 psychotic disorder ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:252 alcoholic psychosis ISO RGD:734107 D RGD:9068941 20231118 RGD DNA:SNP:promoter:-1438G>A PMID:11842624|REF_RGD_ID:401900738 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:2537 inflammatory and toxic neuropathy treatment ISO RGD:61800 D RGD:9068941 20231214 RGD PMID:17888573|PMID:18930597|REF_RGD_ID:401938600|REF_RGD_ID:401938602 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:2560 morphine dependence ISO RGD:62092 D RGD:9068941 20231118 RGD protein:increased expression:prefrontal cortex PMID:28082900|REF_RGD_ID:401900741 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:2841 asthma ISO RGD:734107 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:25322896 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048642 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734107 D RGD:9068941 20231109 RGD DNA:SNP: :rs6313 PMID:28900078|REF_RGD_ID:401900295 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:3312 bipolar disorder ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:3827 congenital diaphragmatic hernia ISO RGD:61800 D RGD:9068941 20231130 RGD mRNA, protein:increased expression:lung PMID:24888825|REF_RGD_ID:401901089 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:4195 hyperglycemia ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:9128844|REF_RGD_ID:1624376 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:4989 pancreatitis ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:16183055|REF_RGD_ID:1624393 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:5419 schizophrenia ISO RGD:734107 D RGD:7240710 20240320 OMIM 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:5419 schizophrenia ISO RGD:734107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:8622505|PMID:9130948 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:6000 congestive heart failure ISO RGD:61800 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:16002744|REF_RGD_ID:1600503 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:630 genetic disease ISO RGD:734107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:6364 migraine ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12482207 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:679 basal ganglia disease ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480698 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:809 cocaine abuse ISO RGD:61800 D RGD:9068941 20231123 RGD PMID:11259563|REF_RGD_ID:401900755 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:809 cocaine abuse ISO RGD:61800 D RGD:9068941 20231123 RGD mRNA:increased expression:orbitofrontal cortex PMID:27733540|REF_RGD_ID:401900753 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:809 cocaine abuse treatment ISO RGD:61800 D RGD:9068941 20231130 RGD PMID:20814782|REF_RGD_ID:401901179 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:8689 anorexia nervosa ISO RGD:734107 D RGD:7240710 20240320 OMIM 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9000972 Fever ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19879056 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9001131 stress-related disorder ISO RGD:61800 D RGD:9068941 20231207 RGD PMID:37794307|REF_RGD_ID:401901277 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002165 Diabetic Nephropathies ISO RGD:61800 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:18175064|REF_RGD_ID:7257686 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002165 Diabetic Nephropathies ISO RGD:734107 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus Type 2; PMID:12213354|REF_RGD_ID:7257687 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002211 Hyperalgesia ISO RGD:61800 D RGD:9068941 20200609 RGD associated with Diabetic neuropathies; PMID:20531396|REF_RGD_ID:7257680 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002211 Hyperalgesia ISO RGD:61800 D RGD:9068941 20231214 RGD PMID:20039957|PMID:25584948|REF_RGD_ID:401901200|REF_RGD_ID:401938625 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002211 Hyperalgesia ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17888573|PMID:18930597 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002362 Hyperkinesis ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16300424|PMID:19347958 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002669 Hypoxia ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:16362404|REF_RGD_ID:1624392 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9002916 Hyperphagia ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:12392096|REF_RGD_ID:1624374 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9003126 Hallucinations ISO RGD:734107 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:29748632 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9003919 Urination Disorders treatment ISO RGD:61800 D RGD:9068941 20231130 RGD associated with Experimental Diabetes Mellitus PMID:25822577|REF_RGD_ID:401901178 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9003936 Cardiomegaly ISO RGD:62092 D RGD:9068941 20231214 RGD protein:increased expression:heart PMID:20005206|REF_RGD_ID:401938624 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9004576 Sleep Initiation and Maintenance Disorders treatment ISO RGD:61800 D RGD:9068941 20231214 RGD PMID:20684606|REF_RGD_ID:401938599 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9004744 Sleep Bruxism susceptibility ISO RGD:734107 D RGD:9068941 20231109 RGD DNA:SNP: :102T>C (rs6313) PMID:22545912|REF_RGD_ID:401900300 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9004767 Acute Stress Disorders, Traumatic treatment ISO RGD:61800 D RGD:9068941 20231123 RGD PMID:15507224|REF_RGD_ID:401900762 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cocaine-Related Disorders PMID:12476319|PMID:15364038|PMID:9635956 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61800 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21521772|REF_RGD_ID:5135278 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9006086 Intervertebral Disc Displacement treatment ISO RGD:61800 D RGD:9068941 20231214 RGD PMID:25584948|REF_RGD_ID:401938625 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9006880 Urinary Incontinence ISO RGD:734107 D RGD:9068941 20231109 RGD DNA:SNP: :102T>C (rs6313) PMID:17713649|REF_RGD_ID:401900292 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9007601 endotoxin shock treatment ISO RGD:61800 D RGD:9068941 20231207 RGD PMID:19318092|REF_RGD_ID:401901206 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9007692 Insulin Resistance ISO RGD:734107 D RGD:9068941 20200609 RGD associated with Peripheral Vascular Diseases PMID:17062970|REF_RGD_ID:1624367 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9007923 Back Pain ISO RGD:61800 D RGD:9068941 20200609 RGD PMID:17268262|REF_RGD_ID:1624379 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9008023 Memory Disorders ISO RGD:734107 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9008675 Dyskinesias ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11526996 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9452 steatotic liver disease ISO RGD:734107 D RGD:9068941 20231111 RGD associated with morbid obesity;mRNA:decreased expression:liver PMID:33081272|REF_RGD_ID:401900305 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity ISO RGD:734107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17097612 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity no_association ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1438G>A PMID:16491645|REF_RGD_ID:1624369 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9970 obesity susceptibility ISO RGD:734107 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1438G>A PMID:16328014|REF_RGD_ID:1624370 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9975 cocaine dependence ISO RGD:61800 D RGD:9068941 20231123 RGD PMID:15849375|REF_RGD_ID:401900756 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9975 cocaine dependence ISO RGD:734107 D RGD:9068941 20231109 RGD DNA:SNP: :rs6561333 PMID:23241418|REF_RGD_ID:401900299 8760552 Htr2a 5-hydroxytryptamine receptor 2A gene DOID:9975 cocaine dependence treatment ISO RGD:61800 D RGD:9068941 20231118 RGD PMID:23336050|REF_RGD_ID:401900743 8760570 Lrrc17 leucine rich repeat containing 17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8760570 Lrrc17 leucine rich repeat containing 17 gene DOID:630 genetic disease ISO RGD:1344845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:0112008 pituitary adenoma 5 ISO RGD:1354071 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:25741868|PMID:28492532 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:0112009 pituitary adenoma 1 ISO RGD:1354071 D RGD:7240710 20200826 OMIM 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:0112009 pituitary adenoma 1 ISO RGD:1354071 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES PMID:16728643|PMID:17341560|PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:27153395|PMID:28492532|PMID:29074612|PMID:30461320|PMID:32324286|PMID:34588620 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:1059 intellectual disability ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1354071 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:24050928|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:27153395|PMID:28492532|PMID:29074612|PMID:30461320|PMID:32324286 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:1354071 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Somatotroph adenoma PMID:12213383|PMID:12810716|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17299063|PMID:17341560|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20570174|PMID:20595802|PMID:20685857|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:34588620|PMID:35586626|PMID:5320367|PMID:9482716|PMID:9536098 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:630 genetic disease ISO RGD:1354071 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:657 adenoma ISO RGD:1354071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22975028 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary adenoma, acth-secreting, somatic PMID:17360484|PMID:18381572|PMID:19366855|PMID:20506337|PMID:20530095|PMID:21454441|PMID:21753072|PMID:22319033|PMID:22720333|PMID:23300914|PMID:23321498|PMID:23633209|PMID:24033266|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25741868|PMID:27153395|PMID:28492532|PMID:29074612|PMID:30461320|PMID:32324286 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:9001520 Symmetric Acroleukopathy ISO RGD:1354071 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acroleukopathy, symmetric PMID:22319033|PMID:23038625|PMID:25741868|PMID:26792934|PMID:27253664|PMID:28255869|PMID:28492532|PMID:29036195 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1354071 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12213383|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:20833337|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:25019383|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28166811|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:32324286|PMID:5320367|PMID:9536098 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12213383|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:20833337|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:25019383|PMID:25093619|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:32324286|PMID:5320367|PMID:9536098 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12213383|PMID:12810716|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:33029249|PMID:35586626|PMID:5320367|PMID:9482716|PMID:9536098 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12213383|PMID:12810716|PMID:16199547|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:32621582|PMID:33029249|PMID:34588620|PMID:35586626|PMID:5320367|PMID:9482716|PMID:9536098 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354071 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12213383|PMID:12810716|PMID:16199547|PMID:16728643|PMID:17242703|PMID:17244780|PMID:17360484|PMID:17371465|PMID:17576681|PMID:17609395|PMID:18381572|PMID:18410548|PMID:18484068|PMID:19366855|PMID:19474519|PMID:19556287|PMID:19684062|PMID:19955762|PMID:20354355|PMID:20457215|PMID:20506337|PMID:20507346|PMID:20530095|PMID:20595802|PMID:21208107|PMID:21340166|PMID:21348957|PMID:21454441|PMID:21512261|PMID:21753072|PMID:21984905|PMID:2200621|PMID:22024364|PMID:22287093|PMID:22319033|PMID:22720333|PMID:22915287|PMID:23038625|PMID:23038925|PMID:23300914|PMID:23321498|PMID:23371967|PMID:23633209|PMID:23743763|PMID:24033266|PMID:24050928|PMID:24078436|PMID:24423289|PMID:24789813|PMID:25019383|PMID:25093619|PMID:25136448|PMID:25184284|PMID:25203624|PMID:25333069|PMID:25350067|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:27033541|PMID:27153395|PMID:27253664|PMID:27267386|PMID:27650164|PMID:28220018|PMID:28255869|PMID:28427099|PMID:28492532|PMID:28634279|PMID:29036195|PMID:29074612|PMID:29308445|PMID:29440248|PMID:29455389|PMID:29507682|PMID:29632148|PMID:29729370|PMID:30262796|PMID:30461320|PMID:30822274|PMID:30941100|PMID:32324286|PMID:32621582|PMID:33029249|PMID:34588620|PMID:35586626|PMID:35602875|PMID:5320367|PMID:9482716|PMID:9536098 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:1354071 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:16728643|PMID:17242703|PMID:17244780|PMID:17609395|PMID:18484068|PMID:19474519|PMID:20506337|PMID:21348957|PMID:21753072|PMID:22319033|PMID:22720333|PMID:22915287|PMID:24050928|PMID:25184284|PMID:25614825|PMID:25741868|PMID:26186299|PMID:26792934|PMID:28255869|PMID:28492532|PMID:29074612 8760578 Aip aryl hydrocarbon receptor interacting protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1354071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8760599 Ahsa1 activator of HSP90 ATPase activity 1 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1346562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 8760599 Ahsa1 activator of HSP90 ATPase activity 1 gene DOID:630 genetic disease ISO RGD:1346562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760621 Elovl2 ELOVL fatty acid elongase 2 gene DOID:12336 male infertility ISO RGD:1318475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21106902 8760621 Elovl2 ELOVL fatty acid elongase 2 gene DOID:630 genetic disease ISO RGD:1318475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760646 Usp31 ubiquitin specific peptidase 31 gene DOID:10003 sensorineural hearing loss ISO RGD:1317813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8760646 Usp31 ubiquitin specific peptidase 31 gene DOID:630 genetic disease ISO RGD:1317813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760666 Gcn1 GCN1 activator of EIF2AK4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8760666 Gcn1 GCN1 activator of EIF2AK4 gene DOID:630 genetic disease ISO RGD:1312843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760721 Kcnk18 potassium two pore domain channel subfamily K member 18 gene DOID:630 genetic disease ISO RGD:1346775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760721 Kcnk18 potassium two pore domain channel subfamily K member 18 gene DOID:6364 migraine ISO RGD:1346775 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Migraine, with or without aura, susceptibility to, 13 PMID:20871611|PMID:25741868|PMID:28492532|PMID:30573346 8760721 Kcnk18 potassium two pore domain channel subfamily K member 18 gene DOID:6364 migraine susceptibility ISO RGD:1346775 D RGD:7240710 20220216 OMIM 8760726 Usp45 ubiquitin specific peptidase 45 gene DOID:0081169 Leber congenital amaurosis 19 ISO RGD:1322181 D RGD:7240710 20190814 OMIM 8760726 Usp45 ubiquitin specific peptidase 45 gene DOID:0081169 Leber congenital amaurosis 19 ISO RGD:1322181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 19 PMID:25741868|PMID:30573563 8760726 Usp45 ubiquitin specific peptidase 45 gene DOID:630 genetic disease ISO RGD:1322181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760726 Usp45 ubiquitin specific peptidase 45 gene DOID:9007661 Dwarfism ISO RGD:1322181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8760757 Vamp7 vesicle associated membrane protein 7 gene DOID:0112003 immunodeficiency 33 ISO RGD:1350434 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8760757 Vamp7 vesicle associated membrane protein 7 gene DOID:11166 papillomavirus infectious disease ISO RGD:1350434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 8760757 Vamp7 vesicle associated membrane protein 7 gene DOID:12849 autistic disorder ISO RGD:1350434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8760757 Vamp7 vesicle associated membrane protein 7 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1350434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 8760757 Vamp7 vesicle associated membrane protein 7 gene DOID:9002720 Splenomegaly ISO RGD:1350434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8760775 Cfap141 cilia and flagella associated protein 141 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8760775 Cfap141 cilia and flagella associated protein 141 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8760775 Cfap141 cilia and flagella associated protein 141 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8760775 Cfap141 cilia and flagella associated protein 141 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8760775 Cfap141 cilia and flagella associated protein 141 gene DOID:1540 parathyroid carcinoma ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8760775 Cfap141 cilia and flagella associated protein 141 gene DOID:5812 MHC class II deficiency ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8760775 Cfap141 cilia and flagella associated protein 141 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8760780 Dennd4b DENN domain containing 4B gene DOID:0070048 GAND syndrome ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 8760780 Dennd4b DENN domain containing 4B gene DOID:0111940 immunodeficiency 42 ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8760780 Dennd4b DENN domain containing 4B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8760780 Dennd4b DENN domain containing 4B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8760780 Dennd4b DENN domain containing 4B gene DOID:1540 parathyroid carcinoma ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8760780 Dennd4b DENN domain containing 4B gene DOID:5812 MHC class II deficiency ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8760780 Dennd4b DENN domain containing 4B gene DOID:630 genetic disease ISO RGD:1344276 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8760780 Dennd4b DENN domain containing 4B gene DOID:9005539 Familial Prostate Cancer ISO RGD:1344276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8760780 Dennd4b DENN domain containing 4B gene DOID:9007661 Dwarfism ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8760780 Dennd4b DENN domain containing 4B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:0111934 immunodeficiency 38 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:0111935 immunodeficiency 16 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:12336 male infertility ISO RGD:1344836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23818598 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:630 genetic disease ISO RGD:1344836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1344836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8760819 Tas1r3 taste 1 receptor member 3 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1344836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8760829 Znf76 zinc finger protein 76 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1314742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8760829 Znf76 zinc finger protein 76 gene DOID:630 genetic disease ISO RGD:1314742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760855 Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1604583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 8760855 Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8760855 Gfod2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 gene DOID:630 genetic disease ISO RGD:1604583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760873 Npm3 nucleophosmin/nucleoplasmin 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1349032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8760873 Npm3 nucleophosmin/nucleoplasmin 3 gene DOID:630 genetic disease ISO RGD:1349032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760873 Npm3 nucleophosmin/nucleoplasmin 3 gene DOID:9006205 Animal Disease Models ISO RGD:1349032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8760889 Adipor2 adiponectin receptor 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17006986|REF_RGD_ID:1599139 8760889 Adipor2 adiponectin receptor 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:1317349 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:19422483|REF_RGD_ID:25440492 8760889 Adipor2 adiponectin receptor 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:1317349 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (human) PMID:25345946|REF_RGD_ID:24922200 8760889 Adipor2 adiponectin receptor 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:1317350 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:serum, liver (mouse) PMID:29569260|REF_RGD_ID:24922201 8760889 Adipor2 adiponectin receptor 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:25536648|PMID:26770322|REF_RGD_ID:25330097|REF_RGD_ID:25824941 8760889 Adipor2 adiponectin receptor 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1317350 D RGD:9068941 20200609 RGD associated with obesity;protein:decreased expression:liver (mouse) PMID:19763702|REF_RGD_ID:25330094 8760889 Adipor2 adiponectin receptor 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis susceptibility ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 8760889 Adipor2 adiponectin receptor 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:20965162|REF_RGD_ID:25440494 8760889 Adipor2 adiponectin receptor 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with obesity PMID:30131158|REF_RGD_ID:25824942 8760889 Adipor2 adiponectin receptor 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:1317350 D RGD:9068941 20200609 RGD PMID:18666257|REF_RGD_ID:25330095 8760889 Adipor2 adiponectin receptor 2 gene DOID:10603 glucose intolerance treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:23797890|REF_RGD_ID:25330096 8760889 Adipor2 adiponectin receptor 2 gene DOID:1612 breast cancer no_association ISO RGD:1317349 D RGD:9068941 20200609 RGD PMID:19723917|REF_RGD_ID:8694417 8760889 Adipor2 adiponectin receptor 2 gene DOID:2018 hyperinsulinism ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle cell PMID:16326833|REF_RGD_ID:1625765 8760889 Adipor2 adiponectin receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:1317350 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:17006986|REF_RGD_ID:1599139 8760889 Adipor2 adiponectin receptor 2 gene DOID:5844 myocardial infarction ISO RGD:1317350 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart left ventricle PMID:16415076|REF_RGD_ID:1625764 8760889 Adipor2 adiponectin receptor 2 gene DOID:630 genetic disease ISO RGD:1317349 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760889 Adipor2 adiponectin receptor 2 gene DOID:783 end stage renal disease ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:24028144|REF_RGD_ID:8695941 8760889 Adipor2 adiponectin receptor 2 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:24797033|REF_RGD_ID:25824940 8760889 Adipor2 adiponectin receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:1317350 D RGD:9068941 20200609 RGD PMID:29237572|REF_RGD_ID:24922203 8760889 Adipor2 adiponectin receptor 2 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:23533720|REF_RGD_ID:8695947 8760889 Adipor2 adiponectin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:19220660|REF_RGD_ID:2312478 8760889 Adipor2 adiponectin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1317350 D RGD:9068941 20200609 RGD Reduced Adipor2 mRNA in livers of diabetic mice PMID:18222103|REF_RGD_ID:2312488 8760889 Adipor2 adiponectin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus no_association ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:17884446|REF_RGD_ID:2312495 8760889 Adipor2 adiponectin receptor 2 gene DOID:9005930 Endotoxemia severity ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with obesity;mRNA:decreased expression:liver (rat) PMID:23838384|REF_RGD_ID:8695926 8760889 Adipor2 adiponectin receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:26115886|REF_RGD_ID:25330099 8760889 Adipor2 adiponectin receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1317350 D RGD:9068941 20200609 RGD PMID:18755807|PMID:22013387|PMID:27220557|REF_RGD_ID:25440493|REF_RGD_ID:25824939|REF_RGD_ID:25824943 8760889 Adipor2 adiponectin receptor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with obesity, LPS;mRNA:decreased expression:liver (rat) PMID:23838384|REF_RGD_ID:8695926 8760889 Adipor2 adiponectin receptor 2 gene DOID:9007456 Female Infertility ISO RGD:1317349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 8760889 Adipor2 adiponectin receptor 2 gene DOID:9007692 Insulin Resistance treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:24797033|PMID:30225267|REF_RGD_ID:21406435|REF_RGD_ID:25824940 8760889 Adipor2 adiponectin receptor 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8760889 Adipor2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317349 D RGD:9068941 20200609 RGD Allele A of +33371 A/G polymorphism for ADIPOR2 confers increased risk of T2DM in a Chinese population PMID:18075289|REF_RGD_ID:2312490 8760889 Adipor2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317349 D RGD:9068941 20200609 RGD Reduced expression of ADIPOR2 mRNA in muscle, which may contribute to insulin resistance PMID:18363889|REF_RGD_ID:2312486 8760889 Adipor2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317349 D RGD:9068941 20200609 RGD Russian population, 129 cases, 117 controls PMID:18548168|REF_RGD_ID:2312480 8760889 Adipor2 adiponectin receptor 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1317349 D RGD:9068941 20200609 RGD 985 T2DM cases and 1050 controls, Chinese population, SNP association study PMID:19631916|REF_RGD_ID:2312476 8760889 Adipor2 adiponectin receptor 2 gene DOID:9452 steatotic liver disease treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:30225267|REF_RGD_ID:21406435 8760889 Adipor2 adiponectin receptor 2 gene DOID:9452 steatotic liver disease treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19076162|REF_RGD_ID:2307264 8760889 Adipor2 adiponectin receptor 2 gene DOID:9970 obesity ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16483885|REF_RGD_ID:1625763 8760889 Adipor2 adiponectin receptor 2 gene DOID:9970 obesity severity ISO RGD:1307891 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23838384|REF_RGD_ID:8695926 8760889 Adipor2 adiponectin receptor 2 gene DOID:9970 obesity treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD PMID:30225267|REF_RGD_ID:21406435 8760889 Adipor2 adiponectin receptor 2 gene DOID:9970 obesity treatment ISO RGD:1307891 D RGD:9068941 20200609 RGD associated with non-alcoholic fatty liver disease PMID:30131158|REF_RGD_ID:25824942 8760901 Arf6 ADP ribosylation factor 6 gene DOID:630 genetic disease ISO RGD:734181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760901 Arf6 ADP ribosylation factor 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:734181 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8760915 F8 coagulation factor VIII gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8760915 F8 coagulation factor VIII gene DOID:0050476 Barth syndrome ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8760915 F8 coagulation factor VIII gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8760915 F8 coagulation factor VIII gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1343567 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16409463|REF_RGD_ID:10766469 8760915 F8 coagulation factor VIII gene DOID:0080600 COVID-19 ISO RGD:1343567 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 8760915 F8 coagulation factor VIII gene DOID:0110124 Bardet-Biedl syndrome 2 ISO RGD:1343567 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 8760915 F8 coagulation factor VIII gene DOID:0111823 autosomal hemophilia A ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mild hemophilia A PMID:29357978 8760915 F8 coagulation factor VIII gene DOID:0112003 immunodeficiency 33 ISO RGD:1343567 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8760915 F8 coagulation factor VIII gene DOID:10588 adrenoleukodystrophy ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8760915 F8 coagulation factor VIII gene DOID:10907 microcephaly ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8760915 F8 coagulation factor VIII gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8760915 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency ISO RGD:1343567 D RGD:7240710 20180130 OMIM 8760915 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency ISO RGD:1343567 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: F8-related condition | ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital | ClinVar Annotator: match by term: Hemophilia, classic PMID:10215414|PMID:10338101|PMID:10404764|PMID:10519986|PMID:10609755|PMID:10896236|PMID:10910910|PMID:10910913|PMID:11102988|PMID:11110718|PMID:11179760|PMID:11189482|PMID:11251334|PMID:11298607|PMID:11341489|PMID:11410838|PMID:11442643|PMID:11554935|PMID:11713379|PMID:11748850|PMID:11843836|PMID:11857744|PMID:11858487|PMID:12139751|PMID:12204009|PMID:12325022|PMID:12351418|PMID:12406074|PMID:12871415|PMID:12884004|PMID:1301194|PMID:1301932|PMID:1301960|PMID:1349567|PMID:1357455|PMID:1412186|PMID:1523102|PMID:15471879|PMID:15569173|PMID:1559571|PMID:15625837|PMID:15670040|PMID:1569180|PMID:1569181|PMID:15710596|PMID:15735794|PMID:15741993|PMID:15810915|PMID:15921397|PMID:15996930|PMID:16128892|PMID:16173970|PMID:1639429|PMID:1643024|PMID:16601827|PMID:1671991|PMID:16769589|PMID:16786531|PMID:16834740|PMID:16972227|PMID:17209060|PMID:17222201|PMID:17445092|PMID:17498081|PMID:17550859|PMID:17610549|PMID:17610560|PMID:18034822|PMID:18184865|PMID:18217193|PMID:18299331|PMID:18371163|PMID:18387975|PMID:18403393|PMID:1840568|PMID:18479430|PMID:1851341|PMID:18565236|PMID:18600086|PMID:18691168|PMID:1908096|PMID:1908817|PMID:1923751|PMID:1924291|PMID:19369668|PMID:19377476|PMID:19448530|PMID:19456877|PMID:19473408|PMID:19473423|PMID:1969840|PMID:19719548|PMID:19719828|PMID:1973901|PMID:19740093|PMID:1979502|PMID:20028422|PMID:20102490|PMID:20108389|PMID:20148980|PMID:20193250|PMID:20300295|PMID:20301578|PMID:20331753|PMID:20331761|PMID:20431853|PMID:20533009|PMID:20536985|PMID:20800587|PMID:20860608|PMID:2104741|PMID:2104766|PMID:2105106|PMID:2105906|PMID:2106480|PMID:21070499|PMID:2107542|PMID:2109644|PMID:2110545|PMID:2121026|PMID:2121641|PMID:21217077|PMID:2125022|PMID:21371196|PMID:21462120|PMID:2159433|PMID:21645180|PMID:21645224|PMID:21645226|PMID:21689372|PMID:21751985|PMID:21838755|PMID:21883705|PMID:21910785|PMID:22103590|PMID:22117735|PMID:22759210|PMID:22958177|PMID:23534532|PMID:23551875|PMID:23625609|PMID:23711237|PMID:23711294|PMID:23809411|PMID:23812942|PMID:23913812|PMID:23926300|PMID:23961341|PMID:23963097|PMID:24033266|PMID:24086941|PMID:24108539|PMID:24118398|PMID:24134483|PMID:2473810|PMID:24845853|PMID:2493803|PMID:2495245|PMID:24953131|PMID:24975702|PMID:2498882|PMID:2506948|PMID:2510835|PMID:25326637|PMID:25628142|PMID:2563431|PMID:2567219|PMID:25708597|PMID:25741868|PMID:25741908|PMID:25824987|PMID:25854144|PMID:25948085|PMID:25955082|PMID:26308136|PMID:26383047|PMID:26879396|PMID:26897466|PMID:27292088|PMID:27868395|PMID:28252515|PMID:2831458|PMID:2833855|PMID:2835307|PMID:28492532|PMID:2861360|PMID:2887317|PMID:2901224|PMID:2907841|PMID:29296726|PMID:29381227|PMID:29388750|PMID:2986011|PMID:2987704|PMID:2993888|PMID:3035554|PMID:30534853|PMID:30913330|PMID:3097553|PMID:31064749|PMID:3122181|PMID:3131627|PMID:3137981|PMID:32166871|PMID:32190902|PMID:32497379|PMID:32581362|PMID:32897612|PMID:33245802|PMID:33706050|PMID:34272389|PMID:34355501|PMID:34751920|PMID:35014236|PMID:35770352|PMID:36007526|PMID:6253938|PMID:6438527|PMID:7579394|PMID:7662970|PMID:7728145|PMID:7794769|PMID:7959679|PMID:7984443|PMID:8011517|PMID:8052958|PMID:8054459|PMID:8069313|PMID:8281136|PMID:8307558|PMID:8322269|PMID:8449505|PMID:8485051|PMID:8490618|PMID:8497853|PMID:8547094|PMID:8576960|PMID:8584995|PMID:8639447|PMID:8644728|PMID:8759905|PMID:9184393|PMID:9326186|PMID:9452104|PMID:9569189|PMID:9594277|PMID:9792405|PMID:9829908|PMID:9886318 8760915 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency treatment ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:10468616|REF_RGD_ID:10450757 8760915 F8 coagulation factor VIII gene DOID:12134 factor VIII deficiency treatment ISO RGD:727845 D RGD:9068941 20211029 RGD PMID:31899798|REF_RGD_ID:150520060 8760915 F8 coagulation factor VIII gene DOID:12259 hemophilia B ISO RGD:1343567 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:10338101|PMID:10404764|PMID:10519986|PMID:10896236|PMID:10910910|PMID:10910913|PMID:11102988|PMID:11298607|PMID:11341489|PMID:11410838|PMID:11442643|PMID:11843836|PMID:11857744|PMID:12139751|PMID:12204009|PMID:12871415|PMID:1301932|PMID:1301960|PMID:1349567|PMID:1357455|PMID:15569173|PMID:15625837|PMID:15810915|PMID:15921397|PMID:15996930|PMID:16128892|PMID:16173970|PMID:16601827|PMID:1671991|PMID:16769589|PMID:16786531|PMID:16834740|PMID:16972227|PMID:17222201|PMID:17445092|PMID:17610549|PMID:18034822|PMID:18387975|PMID:18403393|PMID:18565236|PMID:18600086|PMID:18691168|PMID:1908096|PMID:1924291|PMID:19456877|PMID:19473408|PMID:19473423|PMID:19719828|PMID:1979502|PMID:20102490|PMID:20148980|PMID:20193250|PMID:20300295|PMID:20331753|PMID:20533009|PMID:20800587|PMID:20860608|PMID:2104741|PMID:2106480|PMID:21070499|PMID:21371196|PMID:21645180|PMID:21751985|PMID:21838755|PMID:21883705|PMID:22103590|PMID:23625609|PMID:23711294|PMID:23812942|PMID:23926300|PMID:2493803|PMID:2498882|PMID:2506948|PMID:25741868|PMID:25824987|PMID:25854144|PMID:2833855|PMID:29296726|PMID:2987704|PMID:31064749|PMID:32166871|PMID:34355501|PMID:6438527|PMID:7728145|PMID:7794769|PMID:8281136|PMID:8307558|PMID:8449505|PMID:8490618|PMID:8547094|PMID:8584995|PMID:8639447|PMID:8644728|PMID:9326186|PMID:9452104|PMID:9569189|PMID:9829908|PMID:9886318 8760915 F8 coagulation factor VIII gene DOID:1247 blood coagulation disease ISO RGD:1343567 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:1301932|PMID:20148980|PMID:22103590|PMID:22958177|PMID:23926300|PMID:25741868|PMID:29388750|PMID:31064749|PMID:8485051 8760915 F8 coagulation factor VIII gene DOID:12849 autistic disorder ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8760915 F8 coagulation factor VIII gene DOID:13628 favism ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8760915 F8 coagulation factor VIII gene DOID:1969 cerebral palsy ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8760915 F8 coagulation factor VIII gene DOID:2213 hemorrhagic disease ISO RGD:1343567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8760915 F8 coagulation factor VIII gene DOID:2452 thrombophilia ISO RGD:1343567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16628723 8760915 F8 coagulation factor VIII gene DOID:2729 dyskeratosis congenita ISO RGD:1343567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8760915 F8 coagulation factor VIII gene DOID:417 autoimmune disease ISO RGD:1343567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11886462 8760915 F8 coagulation factor VIII gene DOID:607 paraplegia ISO RGD:1343567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8760915 F8 coagulation factor VIII gene DOID:630 genetic disease ISO RGD:1343567 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18691168|PMID:19473423|PMID:21371196|PMID:23711294|PMID:25741868|PMID:25824987|PMID:28492532|PMID:29296726|PMID:31064749|PMID:32166871|PMID:9886318 8760915 F8 coagulation factor VIII gene DOID:801 hemarthrosis treatment ISO RGD:727845 D RGD:9068941 20211029 RGD PMID:31899798|REF_RGD_ID:150520060 8760915 F8 coagulation factor VIII gene DOID:9001708 Hemorrhagic Shock ISO RGD:727845 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:15748447|REF_RGD_ID:10450768 8760915 F8 coagulation factor VIII gene DOID:9002720 Splenomegaly ISO RGD:1343567 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8760915 F8 coagulation factor VIII gene DOID:9003121 Thromboembolism ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:15634269|REF_RGD_ID:1582359 8760915 F8 coagulation factor VIII gene DOID:9003305 X-Linked Thrombophilia due to Factor VIII Defect ISO RGD:1343567 D RGD:7240710 20220316 OMIM 8760915 F8 coagulation factor VIII gene DOID:9003305 X-Linked Thrombophilia due to Factor VIII Defect ISO RGD:1343567 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT PMID:11179760|PMID:11442643|PMID:1301932|PMID:1412186|PMID:15921397|PMID:16173970|PMID:16769589|PMID:17445092|PMID:17498081|PMID:18217193|PMID:18479430|PMID:18691168|PMID:1908096|PMID:1924291|PMID:19369668|PMID:19473423|PMID:19719548|PMID:20028422|PMID:20102490|PMID:20148980|PMID:20301578|PMID:2121641|PMID:21645180|PMID:21645226|PMID:22958177|PMID:23625609|PMID:23711237|PMID:23711294|PMID:23913812|PMID:23926300|PMID:23961341|PMID:24033266|PMID:24108539|PMID:24134483|PMID:25326637|PMID:25628142|PMID:25708597|PMID:25741868|PMID:25824987|PMID:25854144|PMID:25955082|PMID:27292088|PMID:27868395|PMID:28252515|PMID:28492532|PMID:28748566|PMID:29296726|PMID:29357978|PMID:30913330|PMID:31064749|PMID:32166871|PMID:32190902|PMID:32497379|PMID:33245802|PMID:33706050|PMID:34272389|PMID:35014236|PMID:35770352|PMID:36007526|PMID:6438527|PMID:7579394|PMID:7728145|PMID:7984443|PMID:8281136|PMID:8307558|PMID:8449505|PMID:8639447|PMID:9829908|PMID:9886318 8760915 F8 coagulation factor VIII gene DOID:9003871 Venous Thrombosis ISO RGD:1343567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16875063 8760915 F8 coagulation factor VIII gene DOID:9003871 Venous Thrombosis ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:15634269|REF_RGD_ID:1582359 8760915 F8 coagulation factor VIII gene DOID:9004755 Hemophilic Arthropathy treatment ISO RGD:727845 D RGD:9068941 20211029 RGD PMID:27060449|REF_RGD_ID:150520059 8760915 F8 coagulation factor VIII gene DOID:9005930 Endotoxemia ISO RGD:727845 D RGD:9068941 20200609 RGD PMID:11092686|REF_RGD_ID:7394782 8760915 F8 coagulation factor VIII gene DOID:9006035 Factor VIII Deficiency, Acquired ISO RGD:1343567 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11886462 8760915 F8 coagulation factor VIII gene DOID:9007096 Stroke ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:15202164|REF_RGD_ID:1582360 8760915 F8 coagulation factor VIII gene DOID:9008217 Hemorrhage ISO RGD:1343567 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:11442643|PMID:15921397|PMID:16173970|PMID:17445092|PMID:19473423|PMID:25741868|PMID:32497379|PMID:34272389|PMID:35770352|PMID:36007526|PMID:6438527|PMID:7728145|PMID:7984443 8760915 F8 coagulation factor VIII gene DOID:9008217 Hemorrhage treatment ISO RGD:1343567 D RGD:9068941 20200609 RGD PMID:24931420|REF_RGD_ID:11530071 8760915 F8 coagulation factor VIII gene DOID:9279 hyperhomocysteinemia ISO RGD:727845 D RGD:9068941 20200609 RGD PMID:16046705|REF_RGD_ID:1601105 8760915 F8 coagulation factor VIII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343567 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 8760968 Rpa3 replication protein A3 gene DOID:630 genetic disease ISO RGD:1315635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760976 Tecpr1 tectonin beta-propeller repeat containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8760976 Tecpr1 tectonin beta-propeller repeat containing 1 gene DOID:630 genetic disease ISO RGD:1601877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8760976 Tecpr1 tectonin beta-propeller repeat containing 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1601877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8761020 Necab3 N-terminal EF-hand calcium binding protein 3 gene DOID:2843 long QT syndrome ISO RGD:1320847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8761020 Necab3 N-terminal EF-hand calcium binding protein 3 gene DOID:630 genetic disease ISO RGD:1320847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761052 Tyk2 tyrosine kinase 2 gene DOID:0080600 COVID-19 ISO RGD:1316192 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:33307546 8761052 Tyk2 tyrosine kinase 2 gene DOID:0111989 immunodeficiency 35 ISO RGD:1316192 D RGD:7240710 20180130 OMIM 8761052 Tyk2 tyrosine kinase 2 gene DOID:0111989 immunodeficiency 35 ISO RGD:1316192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY PMID:16199547|PMID:17088085|PMID:17576681|PMID:21680795|PMID:22402565|PMID:24033266|PMID:25388448|PMID:25741868|PMID:25849893|PMID:26288847|PMID:26304966|PMID:27615517|PMID:27872624|PMID:28492532|PMID:29725107|PMID:30578352|PMID:31118190|PMID:32537443|PMID:33260630|PMID:33667394|PMID:34569645|PMID:35708626|PMID:9536098 8761052 Tyk2 tyrosine kinase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22961000 8761052 Tyk2 tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 8761052 Tyk2 tyrosine kinase 2 gene DOID:2377 multiple sclerosis ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525955 8761052 Tyk2 tyrosine kinase 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471820 8761052 Tyk2 tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:1316192 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8761052 Tyk2 tyrosine kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596|PMID:30224649 8761052 Tyk2 tyrosine kinase 2 gene DOID:8778 Crohn's disease ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 8761052 Tyk2 tyrosine kinase 2 gene DOID:8893 psoriasis ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 8761052 Tyk2 tyrosine kinase 2 gene DOID:9004890 Paranoid Disorders ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8761052 Tyk2 tyrosine kinase 2 gene DOID:9004890 Paranoid Disorders susceptibility ISO RGD:1316192 D RGD:9068941 20231102 RGD associated with cocaine dependence; DNA:SNP:: (rs280521) (human) PMID:18438686|REF_RGD_ID:401851917 8761052 Tyk2 tyrosine kinase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1316192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8761052 Tyk2 tyrosine kinase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1316192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Virus-induced diabetes PMID:26288847 8761052 Tyk2 tyrosine kinase 2 gene DOID:9970 obesity ISO RGD:1316193 D RGD:9068941 20220825 MouseDO OMIM:601665 8761095 Naaladl2 N-acetylated alpha-linked acidic dipeptidase like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606935 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8761095 Naaladl2 N-acetylated alpha-linked acidic dipeptidase like 2 gene DOID:630 genetic disease ISO RGD:1606935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761121 Gas7 growth arrest specific 7 gene DOID:0080719 congenital myopathy 6 ISO RGD:1349821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 8761121 Gas7 growth arrest specific 7 gene DOID:630 genetic disease ISO RGD:1349821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761121 Gas7 growth arrest specific 7 gene DOID:9970 obesity ISO RGD:1349821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 8761180 Wdr26 WD repeat domain 26 gene DOID:1059 intellectual disability ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8761180 Wdr26 WD repeat domain 26 gene DOID:1540 parathyroid carcinoma ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8761180 Wdr26 WD repeat domain 26 gene DOID:1826 epilepsy ISO RGD:1348746 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8761180 Wdr26 WD repeat domain 26 gene DOID:2843 long QT syndrome ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8761180 Wdr26 WD repeat domain 26 gene DOID:630 genetic disease ISO RGD:1348746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28518168|PMID:32461654 8761180 Wdr26 WD repeat domain 26 gene DOID:9006821 Skraban-Deardorff Syndrome ISO RGD:1348746 D RGD:7240710 20190315 OMIM 8761180 Wdr26 WD repeat domain 26 gene DOID:9006821 Skraban-Deardorff Syndrome ISO RGD:1348746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Skraban-Deardorff syndrome | ClinVar Annotator: match by term: WDR26-related condition PMID:25741868|PMID:25741869|PMID:28492532|PMID:28686853|PMID:36269129 8761180 Wdr26 WD repeat domain 26 gene DOID:9008582 Developmental Disease ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8761180 Wdr26 WD repeat domain 26 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8761204 Cped1 cadherin like and PC-esterase domain containing 1 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1605333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 8761204 Cped1 cadherin like and PC-esterase domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8761204 Cped1 cadherin like and PC-esterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1605333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761234 Rnf113a ring finger protein 113A gene DOID:0050437 Danon disease ISO RGD:1344435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 8761234 Rnf113a ring finger protein 113A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8761234 Rnf113a ring finger protein 113A gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1344435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8761234 Rnf113a ring finger protein 113A gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1344435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8761234 Rnf113a ring finger protein 113A gene DOID:0111868 nonphotosensitive trichothiodystrophy 5 ISO RGD:1344435 D RGD:7240710 20180130 OMIM 8761234 Rnf113a ring finger protein 113A gene DOID:0111868 nonphotosensitive trichothiodystrophy 5 ISO RGD:1344435 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: RNF113A-related condition | ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive PMID:25612912|PMID:25741868|PMID:28492532|PMID:29144457|PMID:31793730|PMID:31880405 8761234 Rnf113a ring finger protein 113A gene DOID:12849 autistic disorder ISO RGD:1344435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8761234 Rnf113a ring finger protein 113A gene DOID:630 genetic disease ISO RGD:1344435 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8761234 Rnf113a ring finger protein 113A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1344435 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 8761239 Sycp2 synaptonemal complex protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31866047 8761239 Sycp2 synaptonemal complex protein 2 gene DOID:0070176 spermatogenic failure 4 ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early spermatogenesis maturation arrest PMID:25741868|PMID:31866047 8761239 Sycp2 synaptonemal complex protein 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:69483 D RGD:7240710 20200318 OMIM 8761239 Sycp2 synaptonemal complex protein 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OLIGOCHIASMATIC INFERTILITY | ClinVar Annotator: match by term: Oligosynaptic infertility PMID:25741868|PMID:31866047 8761239 Sycp2 synaptonemal complex protein 2 gene DOID:10283 prostate cancer ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8761239 Sycp2 synaptonemal complex protein 2 gene DOID:630 genetic disease ISO RGD:69483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761239 Sycp2 synaptonemal complex protein 2 gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:69483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868|PMID:31866047 8761287 Slc52a3 solute carrier family 52 member 3 gene DOID:0050694 Brown-Vialetto-Van Laere syndrome ISO RGD:1312203 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Pontobulbar palsy and neurosensory deafness PMID:22718020|PMID:24033266|PMID:25741868|PMID:26072523|PMID:27702554|PMID:28492532|PMID:29501408|PMID:33189404|PMID:33325104|PMID:34426522|PMID:34662687 8761287 Slc52a3 solute carrier family 52 member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1312203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 8761287 Slc52a3 solute carrier family 52 member 3 gene DOID:0080632 Fazio-Londe disease ISO RGD:1312203 D RGD:7240710 20200311 OMIM 8761287 Slc52a3 solute carrier family 52 member 3 gene DOID:0080632 Fazio-Londe disease ISO RGD:1312203 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Childhood Progressive Bulbar Palsy | ClinVar Annotator: match by term: Progressive bulbar palsy of childhood PMID:20206331|PMID:20920669|PMID:21110228|PMID:22273710|PMID:22824638|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:28492532|PMID:29053833|PMID:29950502 8761287 Slc52a3 solute carrier family 52 member 3 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1312203 D RGD:7240710 20190320 OMIM 8761287 Slc52a3 solute carrier family 52 member 3 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1312203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:16122634|PMID:16199547|PMID:17576681|PMID:2020633|PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22273710|PMID:22633641|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23107375|PMID:23688382|PMID:24033266|PMID:24239381|PMID:25462087|PMID:25741868|PMID:26072523|PMID:26443808|PMID:27702554|PMID:27777325|PMID:28251916|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29501408|PMID:29950502|PMID:29961494|PMID:32579787|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34426522|PMID:34662687|PMID:9536098 8761287 Slc52a3 solute carrier family 52 member 3 gene DOID:231 motor neuron disease ISO RGD:1312203 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Madras motor neuron disease PMID:25741868|PMID:28492532|PMID:32579787 8761287 Slc52a3 solute carrier family 52 member 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729853 8761287 Slc52a3 solute carrier family 52 member 3 gene DOID:630 genetic disease ISO RGD:1312203 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:26072523|PMID:26443808|PMID:27702554|PMID:27777325|PMID:28251916|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29501408|PMID:29961494|PMID:32579787|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34426522|PMID:34662687 8761287 Slc52a3 solute carrier family 52 member 3 gene DOID:681 progressive bulbar palsy ISO RGD:1312203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8761287 Slc52a3 solute carrier family 52 member 3 gene DOID:9001890 Auditory Neuropathy ISO RGD:1312203 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy PMID:25741868|PMID:28492532|PMID:32579787 8761287 Slc52a3 solute carrier family 52 member 3 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1312203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 8761319 Ldb2 LIM domain binding 2 gene DOID:630 genetic disease ISO RGD:1317395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0050700 cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:9536098 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0050700 cardiomyopathy ISO RGD:1346463 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:9536098 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0050700 cardiomyopathy ISO RGD:1346463 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:37178278|PMID:9536098 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0050700 cardiomyopathy ISO RGD:1346463 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25326637|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:35600473|PMID:37178278|PMID:9536098 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0050700 cardiomyopathy ISO RGD:1346463 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:35600473|PMID:37178278|PMID:9536098 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0050700 cardiomyopathy ISO RGD:1346463 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27005929|PMID:27332903|PMID:27532257|PMID:27854218|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28798025|PMID:28917552|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30878466|PMID:30959811|PMID:31110529|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32233023|PMID:32646569|PMID:32681253|PMID:32746448|PMID:32789579|PMID:33029862|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:33876311|PMID:33895855|PMID:34362124|PMID:35026164|PMID:35413566|PMID:35588295|PMID:35600473|PMID:37178278|PMID:9536098 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1346463 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1346463 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32681253|PMID:32746448|PMID:33029862|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:33895855 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1346463 D RGD:7240710 20180130 OMIM 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1346463 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF HEART PMID:10355918|PMID:10368461|PMID:10820940|PMID:11371514|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14696860|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16716659|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18348270|PMID:18403758|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23741347|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24938736|PMID:2526523|PMID:25606385|PMID:25611685|PMID:25640679|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26265630|PMID:27189955|PMID:27532257|PMID:27573176|PMID:27621313|PMID:27854218|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28546535|PMID:28690312|PMID:28707430|PMID:28771489|PMID:28798025|PMID:28801758|PMID:28917552|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30336887|PMID:30615648|PMID:30847666|PMID:30878466|PMID:30959811|PMID:31110529|PMID:31513939|PMID:31527676|PMID:31720784|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32215636|PMID:32233023|PMID:32259713|PMID:32314121|PMID:32646569|PMID:32681253|PMID:32746448|PMID:32789579|PMID:33029862|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:33876311|PMID:33895855|PMID:34362124|PMID:35026164|PMID:35413566|PMID:35588295|PMID:35600473|PMID:37178278|PMID:762819|PMID:9536098 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1346463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:14519435|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:30847666|PMID:33876311|PMID:35588295 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1346463 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1346463 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:32681253|PMID:32746448|PMID:33029862|PMID:33244021|PMID:33673806|PMID:33762593|PMID:33895855 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110312 hypertrophic cardiomyopathy 6 ISO RGD:1346463 D RGD:7240710 20180130 OMIM 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0110312 hypertrophic cardiomyopathy 6 ISO RGD:1346463 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 6 PMID:10355918|PMID:10820940|PMID:11371514|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16716659|PMID:16836667|PMID:17483151|PMID:17597581|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18403758|PMID:19787389|PMID:19808419|PMID:20005292|PMID:20031621|PMID:20381067|PMID:20600102|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:25092788|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26729852|PMID:27189955|PMID:27532257|PMID:27573176|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28798025|PMID:28917552|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30165862|PMID:30336887|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32314121|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33029862|PMID:33244021|PMID:33673806|PMID:33762593|PMID:33876311|PMID:33895855|PMID:35588295|PMID:35600473|PMID:7657794 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:23778007|PMID:23992123|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28498465 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:10763 hypertension ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension PMID:25741868|PMID:28492532 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346463 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10355918|PMID:10368461|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14696860|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16716659|PMID:16836667|PMID:17483151|PMID:17597581|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18403758|PMID:19787389|PMID:19808419|PMID:20005292|PMID:20031621|PMID:20381067|PMID:20600102|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:25092788|PMID:2526523|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26729852|PMID:27189955|PMID:27532257|PMID:27573176|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28798025|PMID:28801758|PMID:28917552|PMID:29247119|PMID:29253866|PMID:29298659|PMID:30165862|PMID:30336887|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32314121|PMID:32681253|PMID:33029862|PMID:33244021|PMID:33673806|PMID:33876311|PMID:34362124|PMID:35588295|PMID:762819 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:2747 glycogen storage disease ISO RGD:1346463 D RGD:9068941 20200609 RGD PMID:15877279|REF_RGD_ID:1580717 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:2843 long QT syndrome ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:3393 coronary artery disease ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868|PMID:28492532 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:7240710 20180130 OMIM 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29253866|PMID:29298659|PMID:32746448 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593|PMID:35600473 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1346463 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28798025|PMID:28917552|PMID:29121657|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32233023|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33029862|PMID:33244021|PMID:33673806|PMID:33762593|PMID:33876311|PMID:33895855|PMID:35588295|PMID:35600473 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:6000 congestive heart failure ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:21409595|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1346463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:31110529 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:28492532 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 8761351 Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 gene DOID:9007096 Stroke ISO RGD:1346463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 8761374 Nkiras1 NFKB inhibitor interacting Ras like 1 gene DOID:0111882 Diamond-Blackfan anemia 12 ISO RGD:1318403 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition PMID:23812780|PMID:25741868|PMID:28492532|PMID:29599205 8761374 Nkiras1 NFKB inhibitor interacting Ras like 1 gene DOID:630 genetic disease ISO RGD:1318403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:0060241 3-M syndrome ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3-M syndrome 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:0060604 ankyloglossia ISO RGD:1603688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ankyloglossia PMID:25741868|PMID:28492532|PMID:30755392 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:1148 polydactyly ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:630 genetic disease ISO RGD:1603688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:9005349 Three M Syndrome 1 ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:30980518 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1603688 D RGD:7240710 20180130 OMIM 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1603688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3M syndrome 2 PMID:16531729|PMID:17681982|PMID:19481195|PMID:19877176|PMID:20164589|PMID:25741868|PMID:25923536|PMID:26627873|PMID:27796265|PMID:27959697|PMID:28492532|PMID:28969986|PMID:30980518|PMID:33135300 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1603688 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: 3M syndrome 2 | ClinVar Annotator: match by term: OBSL1-related condition PMID:16531729|PMID:17681982|PMID:19481195|PMID:19877176|PMID:20164589|PMID:25741868|PMID:25923536|PMID:26627873|PMID:27796265|PMID:27959697|PMID:28492532|PMID:28969986|PMID:30980518|PMID:33135300|PMID:33726816|PMID:33919104|PMID:36999085 8761393 Obsl1 obscurin like cytoskeletal adaptor 1 gene DOID:9007661 Dwarfism ISO RGD:1603688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:19481195|PMID:25741868 8761417 Trim26 tripartite motif containing 26 gene DOID:11372 megacolon ISO RGD:1346405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8761417 Trim26 tripartite motif containing 26 gene DOID:630 genetic disease ISO RGD:1346405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761432 Shcbp1 SHC binding and spindle associated 1 gene DOID:0080600 COVID-19 ISO RGD:1354140 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8761432 Shcbp1 SHC binding and spindle associated 1 gene DOID:5485 synovial sarcoma ISO RGD:1354140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27572315 8761432 Shcbp1 SHC binding and spindle associated 1 gene DOID:630 genetic disease ISO RGD:1354140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761432 Shcbp1 SHC binding and spindle associated 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8761451 Atxn1l ataxin 1 like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1626546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8761451 Atxn1l ataxin 1 like gene DOID:630 genetic disease ISO RGD:1626546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761451 Atxn1l ataxin 1 like gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1626546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17322884 8761460 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:733965 D RGD:9068941 20200609 RGD PMID:26436650|REF_RGD_ID:13515117 8761460 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:1712 aortic valve stenosis ISO RGD:733965 D RGD:9068941 20200609 RGD PMID:15533858|REF_RGD_ID:1580704 8761460 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:5419 schizophrenia ISO RGD:3383 D RGD:9068941 20200609 RGD PMID:29214423|REF_RGD_ID:13515120 8761460 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:5419 schizophrenia ISO RGD:733965 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15820226|REF_RGD_ID:13515121 8761460 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:630 genetic disease ISO RGD:733965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761460 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:893 Wilson disease ISO RGD:733965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8761460 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:9004009 Reperfusion Injury ISO RGD:11135 D RGD:9068941 20200609 RGD PMID:14615291|REF_RGD_ID:1580705 8761460 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:11135 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 8761460 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:733965 D RGD:9068941 20200609 RGD PMID:16688406|REF_RGD_ID:1580706 8761460 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:11135 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 8761460 Ppp3cb protein phosphatase 3 catalytic subunit beta gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3383 D RGD:9068941 20200609 RGD PMID:16496058|REF_RGD_ID:1580703 8761497 Isl2 ISL LIM homeobox 2 gene DOID:2717 Bloom syndrome ISO RGD:732662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8761497 Isl2 ISL LIM homeobox 2 gene DOID:5419 schizophrenia ISO RGD:732662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8761497 Isl2 ISL LIM homeobox 2 gene DOID:630 genetic disease ISO RGD:732662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761497 Isl2 ISL LIM homeobox 2 gene DOID:9256 colorectal cancer ISO RGD:732662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8761509 Med20 mediator complex subunit 20 gene DOID:0050444 infantile Refsum disease ISO RGD:1606323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8761509 Med20 mediator complex subunit 20 gene DOID:630 genetic disease ISO RGD:1606323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761509 Med20 mediator complex subunit 20 gene DOID:905 Zellweger syndrome ISO RGD:1606323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8761524 Jaml junction adhesion molecule like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8761524 Jaml junction adhesion molecule like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1344740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8761524 Jaml junction adhesion molecule like gene DOID:0080690 RASopathy ISO RGD:1344740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8761524 Jaml junction adhesion molecule like gene DOID:0081330 glycogen storage disease Ib ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8761524 Jaml junction adhesion molecule like gene DOID:0110651 long QT syndrome 10 ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8761524 Jaml junction adhesion molecule like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8761524 Jaml junction adhesion molecule like gene DOID:0111971 immunodeficiency 18 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8761524 Jaml junction adhesion molecule like gene DOID:0111972 immunodeficiency 19 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8761524 Jaml junction adhesion molecule like gene DOID:0111973 immunodeficiency 17 ISO RGD:1344740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8761524 Jaml junction adhesion molecule like gene DOID:1059 intellectual disability ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8761524 Jaml junction adhesion molecule like gene DOID:630 genetic disease ISO RGD:1344740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761524 Jaml junction adhesion molecule like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8761524 Jaml junction adhesion molecule like gene DOID:9007661 Dwarfism ISO RGD:1344740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8761541 Adam15 ADAM metallopeptidase domain 15 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8761541 Adam15 ADAM metallopeptidase domain 15 gene DOID:0080600 COVID-19 ISO RGD:733223 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8761541 Adam15 ADAM metallopeptidase domain 15 gene DOID:0111940 immunodeficiency 42 ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8761541 Adam15 ADAM metallopeptidase domain 15 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8761541 Adam15 ADAM metallopeptidase domain 15 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8761541 Adam15 ADAM metallopeptidase domain 15 gene DOID:1540 parathyroid carcinoma ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8761541 Adam15 ADAM metallopeptidase domain 15 gene DOID:1793 pancreatic cancer ISO RGD:733223 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas, epithelial cell PMID:17465204|REF_RGD_ID:2325247 8761541 Adam15 ADAM metallopeptidase domain 15 gene DOID:5812 MHC class II deficiency ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8761541 Adam15 ADAM metallopeptidase domain 15 gene DOID:630 genetic disease ISO RGD:733223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761541 Adam15 ADAM metallopeptidase domain 15 gene DOID:8398 osteoarthritis ISO RGD:733224 D RGD:9068941 20200609 RGD PMID:15818704|REF_RGD_ID:1559176 8761541 Adam15 ADAM metallopeptidase domain 15 gene DOID:9004756 Brain Hypoxia ISO RGD:620402 D RGD:9068941 20200609 RGD PMID:22230263|REF_RGD_ID:13703065 8761541 Adam15 ADAM metallopeptidase domain 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8761605 Cul2 cullin 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1321670 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 8761605 Cul2 cullin 2 gene DOID:630 genetic disease ISO RGD:1321670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761633 Myzap myocardial zonula adherens protein gene DOID:12930 dilated cardiomyopathy ISO RGD:5509958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 8761633 Myzap myocardial zonula adherens protein gene DOID:2717 Bloom syndrome ISO RGD:5509958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8761633 Myzap myocardial zonula adherens protein gene DOID:630 genetic disease ISO RGD:5509958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761633 Myzap myocardial zonula adherens protein gene DOID:676 juvenile rheumatoid arthritis ISO RGD:5509958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8761633 Myzap myocardial zonula adherens protein gene DOID:9256 colorectal cancer ISO RGD:5509958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8761661 Cntrl centriolin gene DOID:12712 nephronophthisis ISO RGD:1557555 D RGD:9068941 20220825 MouseDO 8761661 Cntrl centriolin gene DOID:630 genetic disease ISO RGD:1313275 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8761709 Sfxn5 sideroflexin 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1343188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 8761709 Sfxn5 sideroflexin 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1343188 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8761709 Sfxn5 sideroflexin 5 gene DOID:543 dystonia ISO RGD:1343188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8761709 Sfxn5 sideroflexin 5 gene DOID:630 genetic disease ISO RGD:1343188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761709 Sfxn5 sideroflexin 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1343188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8761737 Slc48a1 solute carrier family 48 member 1 gene DOID:630 genetic disease ISO RGD:1604345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761762 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8761762 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 8761762 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111834 X-linked reticulate pigmentary disorder ISO RGD:732365 D RGD:7240710 20190315 OMIM 8761762 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111834 X-linked reticulate pigmentary disorder ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder PMID:25741868|PMID:27019227|PMID:28492532 8761762 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111840 Van Esch-O'Driscoll syndrome ISO RGD:732365 D RGD:7240710 20190821 OMIM 8761762 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:0111840 Van Esch-O'Driscoll syndrome ISO RGD:732365 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, van Esch type PMID:17576681|PMID:25741868|PMID:27019227|PMID:28492532|PMID:31006512|PMID:9536098 8761762 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8761762 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:630 genetic disease ISO RGD:732365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8761762 Pola1 DNA polymerase alpha 1, catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8761807 Trub1 TruB pseudouridine synthase family member 1 gene DOID:630 genetic disease ISO RGD:1318307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761819 Tmem67 transmembrane protein 67 gene DOID:0050545 visceral heterotaxy ISO RGD:1316347 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8761819 Tmem67 transmembrane protein 67 gene DOID:0050777 Joubert syndrome ISO RGD:1606753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24039893|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26546361|PMID:26729329|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:29947050|PMID:32000717|PMID:34675960|PMID:36703223|PMID:9375913|PMID:9536098 8761819 Tmem67 transmembrane protein 67 gene DOID:0050778 Meckel syndrome ISO RGD:1606753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:9375913 8761819 Tmem67 transmembrane protein 67 gene DOID:0050952 spastic ataxia ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8761819 Tmem67 transmembrane protein 67 gene DOID:0060340 ciliopathy ISO RGD:1606753 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:25741868|PMID:28492532|PMID:28771248 8761819 Tmem67 transmembrane protein 67 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1606753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:17377820|PMID:17397051|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:24033266|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29891882|PMID:9375913 8761819 Tmem67 transmembrane protein 67 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1606753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:17160906|PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:9375913 8761819 Tmem67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:7240710 20180130 OMIM 8761819 Tmem67 transmembrane protein 67 gene DOID:0070117 Meckel syndrome 3 ISO RGD:1606753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3 PMID:16199547|PMID:16415887|PMID:16541367|PMID:17160906|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22121117|PMID:22700954|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26275793|PMID:26467025|PMID:26546361|PMID:26729329|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:29261186|PMID:2929661|PMID:29891882|PMID:29974258|PMID:30476936|PMID:31411728|PMID:32000717|PMID:34032358|PMID:34675960|PMID:9375913|PMID:9536098 8761819 Tmem67 transmembrane protein 67 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:7240710 20180130 OMIM 8761819 Tmem67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:17397051|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28492532|PMID:29127258 8761819 Tmem67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:9375913 8761819 Tmem67 transmembrane protein 67 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1606753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 14, modifier of PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23351400|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:9375913 8761819 Tmem67 transmembrane protein 67 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1586167 D RGD:9068941 20201211 RGD PMID:11095650|PMID:15052665|PMID:30705305|REF_RGD_ID:1300514|REF_RGD_ID:14995942|REF_RGD_ID:15014788 8761819 Tmem67 transmembrane protein 67 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606753 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:10567047|PMID:12368986|PMID:16199547|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:19763152|PMID:20232449|PMID:20307669|PMID:20607301|PMID:21068128|PMID:21493627|PMID:21633164|PMID:21866095|PMID:22406018|PMID:22700954|PMID:23034536|PMID:23351400|PMID:23559409|PMID:24033266|PMID:24039893|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26075130|PMID:26092869|PMID:26123494|PMID:26191240|PMID:26275793|PMID:26467025|PMID:26546361|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:29261186|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29974258|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31411728|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32058062|PMID:32404165|PMID:33532864|PMID:34032358|PMID:34645491|PMID:34675960|PMID:34964473|PMID:35229910|PMID:36221156|PMID:8862632|PMID:9375913|PMID:9536098 8761819 Tmem67 transmembrane protein 67 gene DOID:0111001 Joubert syndrome 6 ISO RGD:1606753 D RGD:7240710 20180130 OMIM 8761819 Tmem67 transmembrane protein 67 gene DOID:0111001 Joubert syndrome 6 ISO RGD:1606753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Joubert syndrome 6 PMID:10567047|PMID:12368986|PMID:16199547|PMID:16541367|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27434533|PMID:27457812|PMID:27491411|PMID:28125082|PMID:28289063|PMID:28431631|PMID:28492532|PMID:28497568|PMID:28508964|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29974258|PMID:30055837|PMID:30455918|PMID:30476936|PMID:31019026|PMID:31319225|PMID:31589614|PMID:31738409|PMID:32000717|PMID:32404165|PMID:34006472|PMID:34645491|PMID:34675960|PMID:34964473|PMID:36305856|PMID:36617405|PMID:8862632|PMID:9375913|PMID:9536098 8761819 Tmem67 transmembrane protein 67 gene DOID:0111112 nephronophthisis 1 ISO RGD:1606753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:17160906|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28289063|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:0111112 nephronophthisis 1 ISO RGD:1606753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:17160906|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:22700954|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28289063|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:0111118 nephronophthisis 11 ISO RGD:1606753 D RGD:7240710 20180130 OMIM 8761819 Tmem67 transmembrane protein 67 gene DOID:0111118 nephronophthisis 11 ISO RGD:1606753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephronophthisis 11 PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23351400|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:28125082|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:29974258|PMID:30455918|PMID:30476936|PMID:33532864|PMID:9375913|PMID:9536098 8761819 Tmem67 transmembrane protein 67 gene DOID:0111589 COACH syndrome ISO RGD:1606753 D RGD:9068941 20201203 RGD DNA:missense mutations: :multiple PMID:19058225|PMID:19574260|REF_RGD_ID:11535944|REF_RGD_ID:11535946 8761819 Tmem67 transmembrane protein 67 gene DOID:0111589 COACH syndrome ISO RGD:1606753 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism 8761819 Tmem67 transmembrane protein 67 gene DOID:1059 intellectual disability ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:10762 portal hypertension ISO RGD:1606753 D RGD:9068941 20230706 RGD associated with Joubert syndrome 6;DNA:mutations:multiple (human) PMID:29112083|REF_RGD_ID:329951005 8761819 Tmem67 transmembrane protein 67 gene DOID:10907 microcephaly ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8761819 Tmem67 transmembrane protein 67 gene DOID:10908 hydrocephalus ISO RGD:1586167 D RGD:9068941 20201211 RGD PMID:15052665|PMID:30705305|REF_RGD_ID:14995942|REF_RGD_ID:15014788 8761819 Tmem67 transmembrane protein 67 gene DOID:12215 oligohydramnios ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532|PMID:35005812 8761819 Tmem67 transmembrane protein 67 gene DOID:12270 coloboma ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of eye | ClinVar Annotator: match by term: Congenital ocular coloboma PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:12712 nephronophthisis ISO RGD:1606753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17160906|PMID:17397051|PMID:18327255|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:22700954|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28289063|PMID:28492532|PMID:28497568|PMID:29568536 8761819 Tmem67 transmembrane protein 67 gene DOID:1573 communicating hydrocephalus ISO RGD:1586167 D RGD:9068941 20200609 RGD PMID:30705305|REF_RGD_ID:14995942 8761819 Tmem67 transmembrane protein 67 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16415887|PMID:20232449|PMID:23559409|PMID:25741868|PMID:27491411|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:2975 cystic kidney disease ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic kidney disease PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:4989 pancreatitis ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatitis PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:5082 liver cirrhosis ISO RGD:1606753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19508969 8761819 Tmem67 transmembrane protein 67 gene DOID:557 kidney disease ISO RGD:1606753 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17160906|PMID:18327255|PMID:18414213|PMID:25741868|PMID:28289063|PMID:28492532|PMID:29127258 8761819 Tmem67 transmembrane protein 67 gene DOID:576 proteinuria ISO RGD:1586167 D RGD:9068941 20201211 RGD compared to RGD:14995941 PMID:11095650|REF_RGD_ID:1300514 8761819 Tmem67 transmembrane protein 67 gene DOID:630 genetic disease ISO RGD:1606753 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17377820|PMID:17397051|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23351400|PMID:23559409|PMID:25326635|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:27491411|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28973083|PMID:29146704|PMID:29891882|PMID:9375913 8761819 Tmem67 transmembrane protein 67 gene DOID:8283 peritonitis ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peritonitis PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:9000343 Vision Disorders ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:9000495 Tremor ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:9000639 COACH Syndrome 1 ISO RGD:1606753 D RGD:7240710 20201202 OMIM 8761819 Tmem67 transmembrane protein 67 gene DOID:9000639 COACH Syndrome 1 ISO RGD:1606753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:12368986|PMID:17160906|PMID:17377820|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23351400|PMID:23559409|PMID:24033266|PMID:25326635|PMID:25412400|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27434533|PMID:27491411|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28719906|PMID:28771248|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29568536|PMID:29891882|PMID:29974258|PMID:30476936|PMID:34675960|PMID:36617405|PMID:8862632|PMID:9375913|PMID:9536098 8761819 Tmem67 transmembrane protein 67 gene DOID:9001575 IRIS COLOBOMA ISO RGD:1606753 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:20232449|PMID:23559409|PMID:24033266|PMID:25741868|PMID:26729329|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:9005786 RHYNS Syndrome ISO RGD:1606753 D RGD:7240710 20221207 OMIM 8761819 Tmem67 transmembrane protein 67 gene DOID:9005786 RHYNS Syndrome ISO RGD:1606753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome PMID:17377820|PMID:17397051|PMID:18327255|PMID:18414213|PMID:19058225|PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20232449|PMID:20607301|PMID:21068128|PMID:21633164|PMID:21866095|PMID:22700954|PMID:23351400|PMID:23559409|PMID:25741868|PMID:25920555|PMID:26035863|PMID:26092869|PMID:26729329|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28680603|PMID:28973083|PMID:29127258|PMID:29146704|PMID:2929661|PMID:29891882|PMID:30476936|PMID:9375913 8761819 Tmem67 transmembrane protein 67 gene DOID:9006534 Nervous System Malformations ISO RGD:1606753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:19574260|PMID:23559409|PMID:25741868|PMID:26092869|PMID:27491411|PMID:28492532|PMID:28719906 8761819 Tmem67 transmembrane protein 67 gene DOID:9008086 Developmental Disabilities ISO RGD:1606753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 8761819 Tmem67 transmembrane protein 67 gene DOID:9650 pathologic nystagmus ISO RGD:1606753 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:19466712|PMID:19508969|PMID:19540516|PMID:19574260|PMID:20607301|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25741868|PMID:26035863|PMID:26092869|PMID:28492532 8761853 Hscb HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:0111252 vestibular schwannomatosis ISO RGD:1602295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8761853 Hscb HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:630 genetic disease ISO RGD:1602295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761853 Hscb HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:9001737 Sideroblastic Anemia 5 ISO RGD:1602295 D RGD:7240710 20210929 OMIM 8761853 Hscb HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:9001737 Sideroblastic Anemia 5 ISO RGD:1602295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 5 PMID:32634119 8761853 Hscb HscB mitochondrial iron-sulfur cluster cochaperone gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602295 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8761863 Htra2 HtrA serine peptidase 2 gene DOID:0050700 cardiomyopathy ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 8761863 Htra2 HtrA serine peptidase 2 gene DOID:0070000 3-methylglutaconic aciduria type 8 ISO RGD:1318943 D RGD:7240710 20190315 OMIM 8761863 Htra2 HtrA serine peptidase 2 gene DOID:0070000 3-methylglutaconic aciduria type 8 ISO RGD:1318943 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 | ClinVar Annotator: match by term: HTRA2-related condition PMID:17576681|PMID:25531304|PMID:25741868|PMID:27208207|PMID:27696117|PMID:28492532|PMID:9536098 8761863 Htra2 HtrA serine peptidase 2 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1318943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8761863 Htra2 HtrA serine peptidase 2 gene DOID:0080855 Parkinsonism ISO RGD:1318943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26558463 8761863 Htra2 HtrA serine peptidase 2 gene DOID:10283 prostate cancer ISO RGD:1318943 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate (human) PMID:17207090|REF_RGD_ID:5688749 8761863 Htra2 HtrA serine peptidase 2 gene DOID:10534 stomach cancer ISO RGD:1318943 D RGD:9068941 20200609 RGD protein:increased expression:gastric mucosa (human) PMID:12887511|REF_RGD_ID:5688748 8761863 Htra2 HtrA serine peptidase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD protein:increased activity:frontal cortex (human) PMID:21163861|REF_RGD_ID:5688722 8761863 Htra2 HtrA serine peptidase 2 gene DOID:11088 asphyxia neonatorum treatment ISO RGD:1308906 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:20704803|REF_RGD_ID:10402931 8761863 Htra2 HtrA serine peptidase 2 gene DOID:11383 cryptorchidism ISO RGD:1308906 D RGD:9068941 20200609 RGD PMID:16563141|REF_RGD_ID:10402928 8761863 Htra2 HtrA serine peptidase 2 gene DOID:12858 Huntington's disease ISO RGD:1318944 D RGD:9068941 20200609 RGD protein:increased expression:striatal neuron (mouse) PMID:18662332|REF_RGD_ID:5688723 8761863 Htra2 HtrA serine peptidase 2 gene DOID:1380 endometrial cancer ISO RGD:1318943 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium (human) PMID:19424634|REF_RGD_ID:5688747 8761863 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutation, transversion:cds, intron:p.G26E, g.IVS5+29T>A (human) PMID:21338583|REF_RGD_ID:5688714 8761863 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P143A (human) PMID:21701785|REF_RGD_ID:5688395 8761863 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R404W (human) PMID:18401856|REF_RGD_ID:5688393 8761863 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A141S, p.G399S (human) PMID:15961413|REF_RGD_ID:5688381 8761863 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:15509788|REF_RGD_ID:5688367 8761863 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease ISO RGD:1318944 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S276C (mouse) PMID:14534547|REF_RGD_ID:5688392 8761863 Htra2 HtrA serine peptidase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:1318943 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A141S, p.G399S (human) PMID:18364387|REF_RGD_ID:5688394 8761863 Htra2 HtrA serine peptidase 2 gene DOID:1824 status epilepticus ISO RGD:1308906 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, neuron, cytoplasm (rat) PMID:21132459|REF_RGD_ID:5688370 8761863 Htra2 HtrA serine peptidase 2 gene DOID:224 transient cerebral ischemia ISO RGD:1318943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15306124 8761863 Htra2 HtrA serine peptidase 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1308906 D RGD:9068941 20200609 RGD PMID:19462455|REF_RGD_ID:10402932 8761863 Htra2 HtrA serine peptidase 2 gene DOID:231 motor neuron disease ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 8761863 Htra2 HtrA serine peptidase 2 gene DOID:231 motor neuron disease treatment ISO RGD:1318943 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 8761863 Htra2 HtrA serine peptidase 2 gene DOID:2394 ovarian cancer ISO RGD:1318943 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary (human) PMID:18241672|REF_RGD_ID:5688746 8761863 Htra2 HtrA serine peptidase 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1318943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8761863 Htra2 HtrA serine peptidase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1308906 D RGD:9068941 20200609 RGD protein:increased expression:brain, cytosol (rat) PMID:16978742|REF_RGD_ID:2314385 8761863 Htra2 HtrA serine peptidase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1318944 D RGD:9068941 20200609 RGD protein:increased expression:brain, cytosol (mouse) PMID:15306124|REF_RGD_ID:5688372 8761863 Htra2 HtrA serine peptidase 2 gene DOID:3652 Leigh disease ISO RGD:1318943 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 8761863 Htra2 HtrA serine peptidase 2 gene DOID:543 dystonia ISO RGD:1318943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8761863 Htra2 HtrA serine peptidase 2 gene DOID:630 genetic disease ISO RGD:1318943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8761863 Htra2 HtrA serine peptidase 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1318943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8761863 Htra2 HtrA serine peptidase 2 gene DOID:9002644 Premature Aging ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 8761863 Htra2 HtrA serine peptidase 2 gene DOID:9002720 Splenomegaly ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 8761863 Htra2 HtrA serine peptidase 2 gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1318943 D RGD:7240710 20180130 OMIM 8761863 Htra2 HtrA serine peptidase 2 gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1318943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to PMID:15961413|PMID:18364387|PMID:18401856|PMID:18790661|PMID:19118185|PMID:21163861|PMID:21338583|PMID:21701785|PMID:25422467|PMID:25741868|PMID:28492532 8761863 Htra2 HtrA serine peptidase 2 gene DOID:9004484 Sepsis treatment ISO RGD:1308906 D RGD:9068941 20200609 RGD PMID:23557966|REF_RGD_ID:10402934 8761863 Htra2 HtrA serine peptidase 2 gene DOID:9007456 Female Infertility ISO RGD:1318944 D RGD:9068941 20200609 RGD PMID:22976834|REF_RGD_ID:10402865 8761863 Htra2 HtrA serine peptidase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1318944 D RGD:9068941 20200609 RGD protein:increased expression:myocardium, cytosol (mouse) PMID:15611365|REF_RGD_ID:5688376 8761863 Htra2 HtrA serine peptidase 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1318943 D RGD:9068941 20220609 RGD protein:decreased expression:colorectal mucosa (human) PMID:32486357|REF_RGD_ID:152977762 8761897 Stpg1 sperm tail PG-rich repeat containing 1 gene DOID:630 genetic disease ISO RGD:1604766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761897 Stpg1 sperm tail PG-rich repeat containing 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8761897 Stpg1 sperm tail PG-rich repeat containing 1 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1604766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 2 PMID:25741868|PMID:28492532 8761916 Nepro nucleolus and neural progenitor protein gene DOID:0080963 anauxetic dysplasia 3 ISO RGD:1352471 D RGD:7240710 20200520 OMIM 8761916 Nepro nucleolus and neural progenitor protein gene DOID:0080963 anauxetic dysplasia 3 ISO RGD:1352471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 3 PMID:25741868|PMID:26633546|PMID:29620724|PMID:31250547 8761916 Nepro nucleolus and neural progenitor protein gene DOID:10907 microcephaly ISO RGD:1352471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8761916 Nepro nucleolus and neural progenitor protein gene DOID:630 genetic disease ISO RGD:1352471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761940 Gabpb1 GA binding protein transcription factor subunit beta 1 gene DOID:2717 Bloom syndrome ISO RGD:1321019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8761940 Gabpb1 GA binding protein transcription factor subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761940 Gabpb1 GA binding protein transcription factor subunit beta 1 gene DOID:9256 colorectal cancer ISO RGD:1321019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:305 carcinoma ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:630 genetic disease ISO RGD:1342971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988084 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:9005587 Starvation ISO RGD:2015 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15811777|REF_RGD_ID:1625742 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9452481 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:9007692 Insulin Resistance ISO RGD:1342971 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:16788709|REF_RGD_ID:1625735 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:9970 obesity ISO RGD:1342971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:9970 obesity ISO RGD:1342971 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:16788709|REF_RGD_ID:1625735 8761964 Acsl1 acyl-CoA synthetase long chain family member 1 gene DOID:9970 obesity ISO RGD:2015 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue, liver PMID:1543733|REF_RGD_ID:1625737 8762010 Pcgf6 polycomb group ring finger 6 gene DOID:630 genetic disease ISO RGD:1353848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762031 Dtx1 deltex E3 ubiquitin ligase 1 gene DOID:3181 oligodendroglioma ISO RGD:1353899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8762031 Dtx1 deltex E3 ubiquitin ligase 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1353899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 8762031 Dtx1 deltex E3 ubiquitin ligase 1 gene DOID:630 genetic disease ISO RGD:1353899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0080481 peroxisome biogenesis disorder 6A ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:630 genetic disease ISO RGD:1351700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1351700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8762053 Rer1 retention in endoplasmic reticulum sorting receptor 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1351700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8762067 Trmt44 tRNA methyltransferase 44 homolog gene DOID:630 genetic disease ISO RGD:1602178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762091 Efcab3 EF-hand calcium binding domain 3 gene DOID:630 genetic disease ISO RGD:1603895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762158 Pafah2 platelet activating factor acetylhydrolase 2 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1349698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8762158 Pafah2 platelet activating factor acetylhydrolase 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1349698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8762158 Pafah2 platelet activating factor acetylhydrolase 2 gene DOID:630 genetic disease ISO RGD:1349698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1320394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:0111053 platelet-type bleeding disorder 15 ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bleeding disorder platelet type macrothrombocytopenia PMID:23809206|PMID:26316623 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 11q partial monosomy syndrome | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:25741868|PMID:28255014|PMID:31064749|PMID:32581362 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:1588 thrombocytopenia ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24100448|PMID:32581362 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:2213 hemorrhagic disease ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24100448|PMID:32581362 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:3369 Ewing sarcoma ISO RGD:1320394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11772151|PMID:16646077|PMID:26214589 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:418 systemic scleroderma ISO RGD:1320395 D RGD:9068941 20220825 MouseDO OMIM:181750 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:5419 schizophrenia ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:630 genetic disease ISO RGD:1320394 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9003946 Platelet-Type Bleeding Disorder 21 ISO RGD:1320394 D RGD:7240710 20190315 OMIM 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9003946 Platelet-Type Bleeding Disorder 21 ISO RGD:1320394 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 21 PMID:23809206|PMID:24100448|PMID:25741868|PMID:26316623|PMID:28255014|PMID:28492532|PMID:31064749|PMID:32581362|PMID:32987389|PMID:34355501 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8762173 Fli1 Fli-1 proto-oncogene, ETS transcription factor gene DOID:9007661 Dwarfism ISO RGD:1320394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8762194 Mab21l4 mab-21 like 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1605342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8762194 Mab21l4 mab-21 like 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1605342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8762194 Mab21l4 mab-21 like 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1605342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8762194 Mab21l4 mab-21 like 4 gene DOID:1059 intellectual disability ISO RGD:1605342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8762194 Mab21l4 mab-21 like 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1605342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8762203 Bad BCL2 associated agonist of cell death gene DOID:0080855 Parkinsonism ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23251488|REF_RGD_ID:10053712 8762203 Bad BCL2 associated agonist of cell death gene DOID:0081292 traumatic brain injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:24582457|REF_RGD_ID:13782254 8762203 Bad BCL2 associated agonist of cell death gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8762203 Bad BCL2 associated agonist of cell death gene DOID:10286 prostate carcinoma ISO RGD:735541 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:11781193|REF_RGD_ID:2292676 8762203 Bad BCL2 associated agonist of cell death gene DOID:1059 intellectual disability ISO RGD:735541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8762203 Bad BCL2 associated agonist of cell death gene DOID:10652 Alzheimer's disease ISO RGD:735541 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, membrane PMID:9507158|REF_RGD_ID:10053642 8762203 Bad BCL2 associated agonist of cell death gene DOID:10652 Alzheimer's disease treatment ISO RGD:733062 D RGD:9068941 20200609 RGD PMID:15339646|REF_RGD_ID:10053639 8762203 Bad BCL2 associated agonist of cell death gene DOID:10763 hypertension treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:20065158|REF_RGD_ID:10053702 8762203 Bad BCL2 associated agonist of cell death gene DOID:10808 gastric ulcer treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:24378970|REF_RGD_ID:10053695 8762203 Bad BCL2 associated agonist of cell death gene DOID:11132 prostatic hypertrophy ISO RGD:735541 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:11781193|REF_RGD_ID:2292676 8762203 Bad BCL2 associated agonist of cell death gene DOID:11832 visual epilepsy ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:hippocampus PMID:15968425|REF_RGD_ID:2292693 8762203 Bad BCL2 associated agonist of cell death gene DOID:1240 leukemia ISO RGD:735541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 8762203 Bad BCL2 associated agonist of cell death gene DOID:1380 endometrial cancer disease progression ISO RGD:735541 D RGD:9068941 20200609 RGD protein:altered expression:endometrium (human) PMID:24645842|REF_RGD_ID:13432164 8762203 Bad BCL2 associated agonist of cell death gene DOID:1459 hypothyroidism ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22513421|REF_RGD_ID:10053713 8762203 Bad BCL2 associated agonist of cell death gene DOID:1612 breast cancer disease_progression ISO RGD:735541 D RGD:9068941 20200609 RGD PMID:17004114|REF_RGD_ID:2292674 8762203 Bad BCL2 associated agonist of cell death gene DOID:1686 glaucoma ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:retina PMID:16103353|REF_RGD_ID:2292690 8762203 Bad BCL2 associated agonist of cell death gene DOID:1793 pancreatic cancer treatment ISO RGD:735541 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:23523869|REF_RGD_ID:13451129 8762203 Bad BCL2 associated agonist of cell death gene DOID:1875 impotence treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 8762203 Bad BCL2 associated agonist of cell death gene DOID:219 colon cancer treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:21214291|REF_RGD_ID:10053668 8762203 Bad BCL2 associated agonist of cell death gene DOID:224 transient cerebral ischemia ISO RGD:735541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12629175 8762203 Bad BCL2 associated agonist of cell death gene DOID:2316 brain ischemia ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22843461|REF_RGD_ID:10053716 8762203 Bad BCL2 associated agonist of cell death gene DOID:2316 brain ischemia ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:brain PMID:18078455|REF_RGD_ID:2292681 8762203 Bad BCL2 associated agonist of cell death gene DOID:3021 acute kidney failure treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:20037173|REF_RGD_ID:10053672 8762203 Bad BCL2 associated agonist of cell death gene DOID:3070 high grade glioma ISO RGD:735541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8762203 Bad BCL2 associated agonist of cell death gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:733062 D RGD:9068941 20200609 RGD PMID:10582606|REF_RGD_ID:13506907 8762203 Bad BCL2 associated agonist of cell death gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:21891976|PMID:22200499|REF_RGD_ID:10053665|REF_RGD_ID:10053704 8762203 Bad BCL2 associated agonist of cell death gene DOID:3669 intermittent claudication ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 8762203 Bad BCL2 associated agonist of cell death gene DOID:3770 pulmonary fibrosis ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:18198484|REF_RGD_ID:2292680 8762203 Bad BCL2 associated agonist of cell death gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735541 D RGD:9068941 20200609 RGD PMID:24092988|REF_RGD_ID:13434906 8762203 Bad BCL2 associated agonist of cell death gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735541 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:21918885|REF_RGD_ID:13432584 8762203 Bad BCL2 associated agonist of cell death gene DOID:4448 macular degeneration severity ISO RGD:735541 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:22773904|REF_RGD_ID:10053644 8762203 Bad BCL2 associated agonist of cell death gene DOID:4450 renal cell carcinoma ISO RGD:735541 D RGD:9068941 20200609 RGD PMID:15851405|REF_RGD_ID:2292677 8762203 Bad BCL2 associated agonist of cell death gene DOID:630 genetic disease ISO RGD:735541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762203 Bad BCL2 associated agonist of cell death gene DOID:8398 osteoarthritis ISO RGD:735541 D RGD:9068941 20200609 RGD PMID:19217321|REF_RGD_ID:10053643 8762203 Bad BCL2 associated agonist of cell death gene DOID:9000998 Brain Injuries ISO RGD:620103 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:15941375|REF_RGD_ID:2292694 8762203 Bad BCL2 associated agonist of cell death gene DOID:9001708 Hemorrhagic Shock ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:lung PMID:15345971|REF_RGD_ID:2292699 8762203 Bad BCL2 associated agonist of cell death gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23056591|REF_RGD_ID:10053711 8762203 Bad BCL2 associated agonist of cell death gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23643992|REF_RGD_ID:10053660 8762203 Bad BCL2 associated agonist of cell death gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620103 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22647552|REF_RGD_ID:10053673 8762203 Bad BCL2 associated agonist of cell death gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease PMID:22847887|REF_RGD_ID:10053710 8762203 Bad BCL2 associated agonist of cell death gene DOID:9002304 Prostatic Neoplasms ISO RGD:733062 D RGD:9068941 20200609 RGD PMID:17607361|REF_RGD_ID:2292673 8762203 Bad BCL2 associated agonist of cell death gene DOID:9002304 Prostatic Neoplasms ISO RGD:735541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17542986|PMID:19593445 8762203 Bad BCL2 associated agonist of cell death gene DOID:9003936 Cardiomegaly treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Hypertension PMID:21921241|REF_RGD_ID:10053646 8762203 Bad BCL2 associated agonist of cell death gene DOID:9004009 Reperfusion Injury ISO RGD:620103 D RGD:9068941 20200609 RGD protein:altered localization:brain, mitochondria PMID:18347331|REF_RGD_ID:2292679 8762203 Bad BCL2 associated agonist of cell death gene DOID:9004484 Sepsis ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased localization:mitochondrion PMID:24011917|REF_RGD_ID:10053647 8762203 Bad BCL2 associated agonist of cell death gene DOID:9004484 Sepsis treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22683079|REF_RGD_ID:10053707 8762203 Bad BCL2 associated agonist of cell death gene DOID:9004953 Diabetic Cystopathy treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23129268|REF_RGD_ID:10053664 8762203 Bad BCL2 associated agonist of cell death gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 8762203 Bad BCL2 associated agonist of cell death gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23404339|REF_RGD_ID:10053670 8762203 Bad BCL2 associated agonist of cell death gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 8762203 Bad BCL2 associated agonist of cell death gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased expression, decreased phosphorylation, altered activity:testis PMID:17870134|REF_RGD_ID:2292685 8762203 Bad BCL2 associated agonist of cell death gene DOID:9006190 Chronic Pancreatitis severity ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22549003|REF_RGD_ID:10053701 8762203 Bad BCL2 associated agonist of cell death gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21296063|REF_RGD_ID:10053697 8762203 Bad BCL2 associated agonist of cell death gene DOID:9007334 Small-For-Size Syndrome treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:22151301|REF_RGD_ID:10053671 8762203 Bad BCL2 associated agonist of cell death gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:25447754|REF_RGD_ID:10053709 8762203 Bad BCL2 associated agonist of cell death gene DOID:9007692 Insulin Resistance ISO RGD:620103 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart PMID:21385329|REF_RGD_ID:10053645 8762203 Bad BCL2 associated agonist of cell death gene DOID:9007730 Burns ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil PMID:15625305|REF_RGD_ID:2292697 8762203 Bad BCL2 associated agonist of cell death gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased expression, decreased serine phosphorylation:heart PMID:15339931|REF_RGD_ID:2292700 8762203 Bad BCL2 associated agonist of cell death gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23364609|REF_RGD_ID:10053674 8762203 Bad BCL2 associated agonist of cell death gene DOID:9352 type 2 diabetes mellitus ISO RGD:620103 D RGD:9068941 20200609 RGD PMID:23032698|REF_RGD_ID:10053698 8762203 Bad BCL2 associated agonist of cell death gene DOID:9743 diabetic neuropathy treatment ISO RGD:620103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24288572|REF_RGD_ID:10053667 8762203 Bad BCL2 associated agonist of cell death gene DOID:9970 obesity ISO RGD:620103 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:18070754|REF_RGD_ID:2292682 8762224 Tmem140 transmembrane protein 140 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8762224 Tmem140 transmembrane protein 140 gene DOID:630 genetic disease ISO RGD:1605364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762248 Phf24 PHD finger protein 24 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8762248 Phf24 PHD finger protein 24 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8762248 Phf24 PHD finger protein 24 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8762248 Phf24 PHD finger protein 24 gene DOID:0080942 anauxetic dysplasia ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8762248 Phf24 PHD finger protein 24 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8762248 Phf24 PHD finger protein 24 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8762248 Phf24 PHD finger protein 24 gene DOID:3007 breast ductal carcinoma ISO RGD:1342853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8762248 Phf24 PHD finger protein 24 gene DOID:630 genetic disease ISO RGD:1342853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762248 Phf24 PHD finger protein 24 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342853 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8762248 Phf24 PHD finger protein 24 gene DOID:9870 galactosemia ISO RGD:1342853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8762260 Cpa1 carboxypeptidase A1 gene DOID:1485 cystic fibrosis ISO RGD:733563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucoviscidosis PMID:23955596|PMID:25741868|PMID:28492532 8762260 Cpa1 carboxypeptidase A1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8762260 Cpa1 carboxypeptidase A1 gene DOID:4989 pancreatitis ISO RGD:733564 D RGD:9068941 20220825 MouseDO OMIM:167800 8762260 Cpa1 carboxypeptidase A1 gene DOID:630 genetic disease ISO RGD:733563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8762260 Cpa1 carboxypeptidase A1 gene DOID:9001191 Cadmium Poisoning ISO RGD:2388 D RGD:9068941 20211224 RGD protein:increased activity:small intestine (rat) PMID:15865404|REF_RGD_ID:1578424 8762260 Cpa1 carboxypeptidase A1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:733563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955596 8762260 Cpa1 carboxypeptidase A1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:733563 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:23955596|PMID:24522117|PMID:25741868|PMID:26658419|PMID:27449771|PMID:28166811|PMID:28492532|PMID:28497564|PMID:28861620|PMID:29669919|PMID:30045879|PMID:30862690|PMID:30883245|PMID:36555104|PMID:9536098 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:30504930 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:12496759|PMID:15079038|PMID:15184637|PMID:19429166|PMID:23066323|PMID:24126627|PMID:25741868|PMID:28492532 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:0080855 Parkinsonism treatment ISO RGD:3202 D RGD:9068941 20210326 RGD PMID:31408200|REF_RGD_ID:124713575 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:12849 autistic disorder ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:14330 Parkinson's disease ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:1826 epilepsy ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:37 skin disease ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:5419 schizophrenia ISO RGD:736400 D RGD:9068941 20220825 MouseDO OMIM:181500 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:630 genetic disease ISO RGD:732028 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32366965 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732028 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32366965 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:736400 D RGD:9068941 20210326 RGD PMID:25855987|REF_RGD_ID:11057198 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:9006288 INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM ISO RGD:732028 D RGD:7240710 20221214 OMIM 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:9006288 INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM ISO RGD:732028 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism PMID:25741868|PMID:29758562|PMID:29770430|PMID:31428396|PMID:31922365|PMID:32366965|PMID:33585677 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:9006359 Vitamin D Deficiency ISO RGD:3202 D RGD:9068941 20210326 RGD PMID:28365874|REF_RGD_ID:124713570 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:9008 psoriatic arthritis ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732956 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:732028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16293616 8762274 Nr4a2 nuclear receptor subfamily 4 group A member 2 gene DOID:9008582 Developmental Disease ISO RGD:732028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8762306 Txn2 thioredoxin 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:737462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8762306 Txn2 thioredoxin 2 gene DOID:0080016 spina bifida ISO RGD:737462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165900 8762306 Txn2 thioredoxin 2 gene DOID:0111501 combined oxidative phosphorylation deficiency 29 ISO RGD:737462 D RGD:7240710 20190315 OMIM 8762306 Txn2 thioredoxin 2 gene DOID:0111501 combined oxidative phosphorylation deficiency 29 ISO RGD:737462 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 PMID:25741868|PMID:26626369|PMID:28492532 8762306 Txn2 thioredoxin 2 gene DOID:630 genetic disease ISO RGD:737462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8762306 Txn2 thioredoxin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:71040 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:19128823|REF_RGD_ID:5685030 8762306 Txn2 thioredoxin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71040 D RGD:9068941 20200609 RGD mRNA:altered expression:myocardium (rat) PMID:20571744|REF_RGD_ID:5133714 8762306 Txn2 thioredoxin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71040 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:15039483|REF_RGD_ID:2306161 8762306 Txn2 thioredoxin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:71040 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:18045550|REF_RGD_ID:2306159 8762337 Zbtb24 zinc finger and BTB domain containing 24 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1315856 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8762337 Zbtb24 zinc finger and BTB domain containing 24 gene DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ISO RGD:1315856 D RGD:7240710 20180130 OMIM 8762337 Zbtb24 zinc finger and BTB domain containing 24 gene DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ISO RGD:1315856 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 PMID:16199547|PMID:17576681|PMID:21596365|PMID:21906047|PMID:22786748|PMID:23739126|PMID:24742017|PMID:25330735|PMID:25741868|PMID:28128455|PMID:28492532|PMID:28518168|PMID:29023266|PMID:29255178|PMID:29659838|PMID:30010917|PMID:30353301|PMID:30511102|PMID:30719684|PMID:30987377|PMID:31066130|PMID:31130284|PMID:32461654|PMID:33995370|PMID:9536098 8762337 Zbtb24 zinc finger and BTB domain containing 24 gene DOID:630 genetic disease ISO RGD:1315856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28518168|PMID:32461654 8762337 Zbtb24 zinc finger and BTB domain containing 24 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1315856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 8762354 Pgk1 phosphoglycerate kinase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8762354 Pgk1 phosphoglycerate kinase 1 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:28492532 8762354 Pgk1 phosphoglycerate kinase 1 gene DOID:0111933 phosphoglycerate kinase 1 deficiency ISO RGD:1353723 D RGD:7240710 20180130 OMIM 8762354 Pgk1 phosphoglycerate kinase 1 gene DOID:0111933 phosphoglycerate kinase 1 deficiency ISO RGD:1353723 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-Related Disorder | ClinVar Annotator: match by term: PGK1-related condition PMID:1547346|PMID:1586722|PMID:16412025|PMID:16567715|PMID:16671097|PMID:16740138|PMID:19157875|PMID:2001457|PMID:22348148|PMID:23934111|PMID:25741868|PMID:26975778|PMID:2715616|PMID:27848944|PMID:28492532|PMID:31175295|PMID:3840329|PMID:411673|PMID:4676843|PMID:5764452|PMID:6770677|PMID:6933565|PMID:7391028|PMID:7577653|PMID:8043870|PMID:9512313|PMID:9744480 8762354 Pgk1 phosphoglycerate kinase 1 gene DOID:12849 autistic disorder ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8762354 Pgk1 phosphoglycerate kinase 1 gene DOID:1838 Menkes disease ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 8762354 Pgk1 phosphoglycerate kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1353723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8762354 Pgk1 phosphoglycerate kinase 1 gene DOID:583 hemolytic anemia ISO RGD:1353723 D RGD:9068941 20200609 RGD PMID:16740138|REF_RGD_ID:1599123 8762354 Pgk1 phosphoglycerate kinase 1 gene DOID:630 genetic disease ISO RGD:1353723 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23934111|PMID:25741868|PMID:26975778|PMID:28492532 8762354 Pgk1 phosphoglycerate kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8762354 Pgk1 phosphoglycerate kinase 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8762354 Pgk1 phosphoglycerate kinase 1 gene DOID:9006783 Young Syndrome ISO RGD:1353723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility due to obstructive azoospermia 8762395 Prr30 proline rich 30 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8762395 Prr30 proline rich 30 gene DOID:630 genetic disease ISO RGD:1602815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762406 Marveld2 MARVEL domain containing 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 8762406 Marveld2 MARVEL domain containing 2 gene DOID:0110506 autosomal recessive nonsyndromic deafness 49 ISO RGD:1345417 D RGD:7240710 20180130 OMIM 8762406 Marveld2 MARVEL domain containing 2 gene DOID:0110506 autosomal recessive nonsyndromic deafness 49 ISO RGD:1345417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 PMID:16199547|PMID:17186462|PMID:18084694|PMID:22097895|PMID:23767834|PMID:23979167|PMID:24033266|PMID:25652404|PMID:25666562|PMID:25741868|PMID:25788563|PMID:25885414|PMID:26467025|PMID:28492532|PMID:30311386|PMID:31850270|PMID:32747562|PMID:33597575 8762406 Marveld2 MARVEL domain containing 2 gene DOID:630 genetic disease ISO RGD:1345417 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8762406 Marveld2 MARVEL domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8762406 Marveld2 MARVEL domain containing 2 gene DOID:9004538 Hearing Loss ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:17186462|PMID:18084694|PMID:24033266|PMID:25741868|PMID:30311386 8762406 Marveld2 MARVEL domain containing 2 gene DOID:9004538 Hearing Loss ISO RGD:1345417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:17186462|PMID:18084694|PMID:22097895|PMID:24033266|PMID:25666562|PMID:25741868|PMID:28492532|PMID:30311386 8762406 Marveld2 MARVEL domain containing 2 gene DOID:9008681 Deafness ISO RGD:1345417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 8762449 Clec4g C-type lectin domain family 4 member G gene DOID:0080490 mucolipidosis type IV ISO RGD:1354383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8762449 Clec4g C-type lectin domain family 4 member G gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1354383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8762449 Clec4g C-type lectin domain family 4 member G gene DOID:630 genetic disease ISO RGD:1354383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762449 Clec4g C-type lectin domain family 4 member G gene DOID:684 hepatocellular carcinoma ISO RGD:1354383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28166811|PMID:28492532|PMID:31664448 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:31664448 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:0050453 lissencephaly ISO RGD:1348797 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:28679693|PMID:30122538|PMID:31664448 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1348797 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction PMID:25741868|PMID:31389005 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:0112235 lissencephaly 4 ISO RGD:1348797 D RGD:7240710 20180130 OMIM 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:0112235 lissencephaly 4 ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) PMID:18414213|PMID:21529751|PMID:21529752|PMID:24033266|PMID:25326635|PMID:25332407|PMID:25741868|PMID:26206584|PMID:26467025|PMID:28492532|PMID:30637988 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:1059 intellectual disability ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:25326635|PMID:25741868|PMID:28492532 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:12849 autistic disorder ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:9536098 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:9536098 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348797 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:35276540|PMID:35830949|PMID:9536098 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348797 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21937134|PMID:22001912|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25407000|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:28074631|PMID:28166811|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:34498425|PMID:35276540|PMID:35393538|PMID:35830949|PMID:9536098 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:1826 epilepsy ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:16541094 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:3627 aortic aneurysm ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:22001912|PMID:25741868|PMID:28492532 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:4080 tricuspid valve insufficiency ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tricuspid regurgitation PMID:25741868 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:520 aortic disease ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:24033266|PMID:25741868|PMID:28492532 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:5419 schizophrenia ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:630 genetic disease ISO RGD:1348797 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25500235|PMID:25637381|PMID:25741868|PMID:27146836|PMID:28492532|PMID:9536098 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:65 connective tissue disease ISO RGD:1348797 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:17576681|PMID:22001912|PMID:25500235|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:26188975|PMID:27153395|PMID:28492532|PMID:29543232|PMID:29907982|PMID:32238909|PMID:32368696|PMID:35276540|PMID:35393538|PMID:35830949|PMID:9536098 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:8445 intestinal volvulus ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1348797 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:16199547|PMID:16444274|PMID:17576681|PMID:18391202|PMID:20226094|PMID:21698135|PMID:21937134|PMID:22001912|PMID:22318994|PMID:23099432|PMID:23142374|PMID:24033266|PMID:25407000|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26436109|PMID:26467025|PMID:27146836|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27884122|PMID:28074631|PMID:28166811|PMID:28367076|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29179725|PMID:29441698|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29907982|PMID:30122538|PMID:31473177|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32238909|PMID:32368696|PMID:32600061|PMID:34498425|PMID:35276540|PMID:35393538|PMID:35535697|PMID:35830949|PMID:9536098 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:9000924 Gastrointestinal Motility Disorders ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal and colonic dysmotility PMID:18391202 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 ISO RGD:1348797 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:17576681|PMID:22001912|PMID:24033266|PMID:25741868|PMID:28469501|PMID:28492532|PMID:29543232|PMID:29907982|PMID:32238909|PMID:34498425|PMID:35276540|PMID:35393538|PMID:9536098 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:9002767 Microhydranencephaly ISO RGD:1348797 D RGD:7240710 20180130 OMIM 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:9002767 Microhydranencephaly ISO RGD:1348797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydranencephaly and microcephaly PMID:10762554|PMID:18414213|PMID:22526350|PMID:25326635|PMID:25332407|PMID:25741868|PMID:28492532|PMID:30637988 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:9007096 Stroke ISO RGD:1348797 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1348797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1348797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:25741868|PMID:28492532 8762462 Nde1 nudE neurodevelopment protein 1 gene DOID:9009175 Visceral Myopathy 2 ISO RGD:1348797 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2 PMID:17576681|PMID:18391202|PMID:22001912|PMID:24033266|PMID:25741868|PMID:28469501|PMID:28492532|PMID:29543232|PMID:29907982|PMID:31389005|PMID:32238909|PMID:34498425|PMID:35276540|PMID:35393538|PMID:9536098 8762508 Glyctk glycerate kinase gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1604750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8762508 Glyctk glycerate kinase gene DOID:0111626 D-glyceric aciduria ISO RGD:1604750 D RGD:7240710 20180130 OMIM 8762508 Glyctk glycerate kinase gene DOID:0111626 D-glyceric aciduria ISO RGD:1604750 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: D-Glyceric aciduria PMID:20949620|PMID:25741868|PMID:28492532|PMID:29695758|PMID:4434100 8762508 Glyctk glycerate kinase gene DOID:630 genetic disease ISO RGD:1604750 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8762538 Mtm1 myotubularin 1 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1312103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 8762538 Mtm1 myotubularin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8762538 Mtm1 myotubularin 1 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1312103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532 8762538 Mtm1 myotubularin 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1312103 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10215413|PMID:10449925|PMID:10502779|PMID:10714588|PMID:10726846|PMID:10790201|PMID:10900271|PMID:11456308|PMID:11552027|PMID:11793470|PMID:12031625|PMID:12118066|PMID:12467733|PMID:12522554|PMID:12646134|PMID:12707446|PMID:12859411|PMID:15725586|PMID:15811014|PMID:15883335|PMID:16199547|PMID:17005396|PMID:17537630|PMID:17576681|PMID:17973976|PMID:18358876|PMID:18414213|PMID:18817572|PMID:19084976|PMID:20301605|PMID:20358311|PMID:20434914|PMID:20500434|PMID:21135508|PMID:22068590|PMID:22101172|PMID:22435031|PMID:22520358|PMID:22968135|PMID:22968136|PMID:23071445|PMID:23346162|PMID:2352255|PMID:23818870|PMID:23917616|PMID:24033266|PMID:24381816|PMID:25640679|PMID:25741868|PMID:25787132|PMID:25957634|PMID:26197979|PMID:26338224|PMID:26467025|PMID:26898940|PMID:26938784|PMID:27017278|PMID:27363342|PMID:28007904|PMID:28492532|PMID:28685322|PMID:29567349|PMID:30047259|PMID:30149909|PMID:30232666|PMID:30241883|PMID:30884204|PMID:30902907|PMID:31541013|PMID:32805447|PMID:33164942|PMID:34011573|PMID:34463354|PMID:34782754|PMID:7611280|PMID:8640223|PMID:9199578|PMID:9285787|PMID:9305655|PMID:9450905|PMID:9536098|PMID:9829274|PMID:9851444|PMID:9858861 8762538 Mtm1 myotubularin 1 gene DOID:12849 autistic disorder ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8762538 Mtm1 myotubularin 1 gene DOID:14717 centronuclear myopathy ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:18414213 8762538 Mtm1 myotubularin 1 gene DOID:422 congenital structural myopathy ISO RGD:1312103 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY 1 PMID:10063835|PMID:10790201|PMID:12118066|PMID:17005396|PMID:18414213|PMID:19084976|PMID:25741868|PMID:25957634|PMID:28492532|PMID:30149909|PMID:30241883|PMID:33164942|PMID:34011573|PMID:34463354|PMID:9285787|PMID:9305655|PMID:9450905 8762538 Mtm1 myotubularin 1 gene DOID:423 myopathy ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:32581362 8762538 Mtm1 myotubularin 1 gene DOID:607 paraplegia ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10790201|PMID:11793470|PMID:12646134|PMID:17973976|PMID:18414213|PMID:21135508|PMID:22520358|PMID:23071445|PMID:23917616|PMID:25741868|PMID:26338224|PMID:28492532|PMID:32805447|PMID:9285787|PMID:9305655 8762538 Mtm1 myotubularin 1 gene DOID:630 genetic disease ISO RGD:1312103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502779|PMID:10714588|PMID:10900271|PMID:11793470|PMID:12031625|PMID:12118066|PMID:17537630|PMID:18414213|PMID:2352255|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28685322|PMID:8640223 8762538 Mtm1 myotubularin 1 gene DOID:8488 polyhydramnios ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868 8762538 Mtm1 myotubularin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312103 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10063835|PMID:11793470|PMID:12467733|PMID:15725586|PMID:18414213|PMID:24381816|PMID:25741868|PMID:28492532|PMID:9285787|PMID:9305655|PMID:9829274 8762538 Mtm1 myotubularin 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1312103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 8762565 Ccdc137 coiled-coil domain containing 137 gene DOID:5419 schizophrenia ISO RGD:1625086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 8762565 Ccdc137 coiled-coil domain containing 137 gene DOID:630 genetic disease ISO RGD:1625086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762574 Dmxl1 Dmx like 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317027 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8762574 Dmxl1 Dmx like 1 gene DOID:3070 high grade glioma ISO RGD:1317027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 8762574 Dmxl1 Dmx like 1 gene DOID:630 genetic disease ISO RGD:1317027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762574 Dmxl1 Dmx like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8762574 Dmxl1 Dmx like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317027 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8762623 Mcf2 MCF.2 cell line derived transforming sequence gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8762623 Mcf2 MCF.2 cell line derived transforming sequence gene DOID:12259 hemophilia B ISO RGD:1345996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 8762623 Mcf2 MCF.2 cell line derived transforming sequence gene DOID:12849 autistic disorder ISO RGD:1345996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8762623 Mcf2 MCF.2 cell line derived transforming sequence gene DOID:630 genetic disease ISO RGD:1345996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762623 Mcf2 MCF.2 cell line derived transforming sequence gene DOID:9001276 Failure to Thrive ISO RGD:1345996 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 8762685 Reep6 receptor accessory protein 6 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1319884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8762685 Reep6 receptor accessory protein 6 gene DOID:0080350 retinitis pigmentosa 77 ISO RGD:1319884 D RGD:7240710 20190315 OMIM 8762685 Reep6 receptor accessory protein 6 gene DOID:0080350 retinitis pigmentosa 77 ISO RGD:1319884 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: REEP6-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 77 PMID:25741868|PMID:27889058|PMID:28369466|PMID:28475715|PMID:28492532|PMID:29120066|PMID:36284460|PMID:36819107 8762685 Reep6 receptor accessory protein 6 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1319884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8762685 Reep6 receptor accessory protein 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1319884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:29120066 8762685 Reep6 receptor accessory protein 6 gene DOID:5339 cyclic hematopoiesis ISO RGD:1319884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8762685 Reep6 receptor accessory protein 6 gene DOID:630 genetic disease ISO RGD:1319884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8762685 Reep6 receptor accessory protein 6 gene DOID:8501 fundus dystrophy ISO RGD:1319884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 8762685 Reep6 receptor accessory protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8762701 Ptch1 patched 1 gene DOID:0050860 colorectal adenoma ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:24612059|REF_RGD_ID:150523840 8762701 Ptch1 patched 1 gene DOID:0050902 medulloblastoma ISO RGD:1319156 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:16301862|PMID:16419085|PMID:22952776|PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:0060327 omphalocele ISO RGD:1319156 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 8762701 Ptch1 patched 1 gene DOID:0060673 Peters anomaly ISO RGD:1319156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:1347096|PMID:26467025|PMID:26893459|PMID:28492532|PMID:30762128|PMID:35170016 8762701 Ptch1 patched 1 gene DOID:0070365 nevoid basal cell carcinoma syndrome 1 ISO RGD:1319156 D RGD:7240710 20230505 OMIM 8762701 Ptch1 patched 1 gene DOID:0070365 nevoid basal cell carcinoma syndrome 1 ISO RGD:1319156 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 PMID:25741868|PMID:27930734|PMID:28492532|PMID:33179747 8762701 Ptch1 patched 1 gene DOID:0080016 spina bifida ISO RGD:1319156 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:26446020|REF_RGD_ID:12801432 8762701 Ptch1 patched 1 gene DOID:0080600 COVID-19 ISO RGD:1319156 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8762701 Ptch1 patched 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1319156 D RGD:7240710 20180130 OMIM 8762701 Ptch1 patched 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1319156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:11941477|PMID:12204003|PMID:12925203|PMID:1347096|PMID:15712338|PMID:16231297|PMID:16301862|PMID:17001668|PMID:17096318|PMID:17985375|PMID:18502968|PMID:19346217|PMID:20485063|PMID:21188540|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24368541|PMID:24728327|PMID:24942795|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26893459|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28733979|PMID:28873162|PMID:29212164|PMID:29498494|PMID:29575684|PMID:29992659|PMID:30093976|PMID:30262796|PMID:31180159|PMID:31655866|PMID:32074614|PMID:32321774|PMID:32409749|PMID:32906206|PMID:33209614|PMID:33466296|PMID:33729574|PMID:34831015|PMID:8302318|PMID:9463336 8762701 Ptch1 patched 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1319156 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:0111545 familial male-limited precocious puberty ISO RGD:1319156 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial precocious puberty PMID:25741868 8762701 Ptch1 patched 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1319156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:16231297|PMID:23334667|PMID:24728327|PMID:25567908|PMID:25741868|PMID:26467025|PMID:26559152|PMID:26802149|PMID:26893459|PMID:28492532|PMID:30762128|PMID:33729574 8762701 Ptch1 patched 1 gene DOID:10460 nasopharyngitis ISO RGD:1319156 D RGD:9068941 20211126 RGD mRNA:decreased expression:epithelium of nasopharynx PMID:23001130|REF_RGD_ID:150523839 8762701 Ptch1 patched 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1319156 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:16231297|PMID:23334667|PMID:24728327|PMID:26467025|PMID:26559152|PMID:26893459|PMID:28492532|PMID:33729574 8762701 Ptch1 patched 1 gene DOID:10534 stomach cancer ISO RGD:1319156 D RGD:9068941 20211126 RGD DNA:hypermethylation:promoter PMID:19673023|REF_RGD_ID:150523838 8762701 Ptch1 patched 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:22456124|PMID:23371028|REF_RGD_ID:150523836|REF_RGD_ID:150523844 8762701 Ptch1 patched 1 gene DOID:10534 stomach cancer severity ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:23440386|REF_RGD_ID:150523843 8762701 Ptch1 patched 1 gene DOID:1059 intellectual disability ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8762701 Ptch1 patched 1 gene DOID:10908 hydrocephalus ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:28492532|PMID:29983323 8762701 Ptch1 patched 1 gene DOID:11830 myopia ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:13223 uterine fibroid ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:25741868 8762701 Ptch1 patched 1 gene DOID:13636 Fanconi anemia ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17924555|PMID:23613520|PMID:28492532|PMID:31558676 8762701 Ptch1 patched 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:1682 congenital heart disease ISO RGD:1319156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:25637381|PMID:26467025|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:1793 pancreatic cancer ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077462 8762701 Ptch1 patched 1 gene DOID:1793 pancreatic cancer ISO RGD:1319156 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19396459|REF_RGD_ID:2324910 8762701 Ptch1 patched 1 gene DOID:2120 focal dermal hypoplasia ISO RGD:1319156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:10564585|PMID:11457640|PMID:12204003|PMID:16199547|PMID:16301862|PMID:16419085|PMID:16508594|PMID:18830227|PMID:24728327|PMID:24814739|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27930734|PMID:28492532|PMID:29641532|PMID:33179747|PMID:33807452 8762701 Ptch1 patched 1 gene DOID:2394 ovarian cancer ISO RGD:1319156 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:16931872|PMID:24204797|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29205322|PMID:30093976|PMID:31645765 8762701 Ptch1 patched 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319156 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11231326|PMID:11387302|PMID:11457640|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12900905|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15565302|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17328283|PMID:17349603|PMID:17576681|PMID:17703323|PMID:17924555|PMID:18302678|PMID:18373848|PMID:18477452|PMID:1850296|PMID:18502968|PMID:18510667|PMID:18830227|PMID:19002359|PMID:19346217|PMID:19362041|PMID:19521425|PMID:19557015|PMID:20068110|PMID:20301330|PMID:20485063|PMID:20690502|PMID:21188540|PMID:21368767|PMID:21490102|PMID:21514272|PMID:21567912|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22382802|PMID:22434048|PMID:22572734|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22829011|PMID:22844361|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24369017|PMID:24529220|PMID:24651015|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24816767|PMID:24942795|PMID:25117323|PMID:25131638|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25727044|PMID:25741868|PMID:25938944|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:26997948|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28342698|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29277811|PMID:29381605|PMID:29446198|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29983323|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30256826|PMID:30262796|PMID:30368514|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30754660|PMID:30936464|PMID:30997576|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31644632|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32741058|PMID:32906206|PMID:33077954|PMID:33179747|PMID:33209614|PMID:33332384|PMID:33418956|PMID:33441926|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34008892|PMID:34426522|PMID:34831015|PMID:35181726|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9341860|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 8762701 Ptch1 patched 1 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319156 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11231326|PMID:11387302|PMID:11457640|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12900905|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15565302|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17328283|PMID:17349603|PMID:17576681|PMID:17703323|PMID:17924555|PMID:18302678|PMID:18373848|PMID:18477452|PMID:1850296|PMID:18502968|PMID:18510667|PMID:18830227|PMID:19002359|PMID:19346217|PMID:19362041|PMID:19521425|PMID:19557015|PMID:19618880|PMID:20068110|PMID:20301330|PMID:20485063|PMID:20690502|PMID:21188540|PMID:21368767|PMID:21490102|PMID:21514272|PMID:21520333|PMID:21567912|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22382802|PMID:22434048|PMID:22572734|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22829011|PMID:22844361|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24369017|PMID:24529220|PMID:24651015|PMID:24668667|PMID:24728327|PMID:24807215|PMID:24814739|PMID:24816767|PMID:24942795|PMID:25117323|PMID:25131638|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25640679|PMID:25727044|PMID:25741868|PMID:25938944|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:26997948|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28252636|PMID:28342698|PMID:28492532|PMID:28495808|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29277811|PMID:29381605|PMID:29446198|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29983323|PMID:29992659|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30256826|PMID:30262796|PMID:30368514|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30754660|PMID:30762128|PMID:30936464|PMID:30997576|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31613886|PMID:31639285|PMID:31644632|PMID:31645765|PMID:31655866|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32741058|PMID:32906206|PMID:33077954|PMID:33179747|PMID:33209614|PMID:33270637|PMID:33332384|PMID:33418956|PMID:33441926|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:33807452|PMID:34008892|PMID:34194672|PMID:34426522|PMID:34831015|PMID:35170016|PMID:35181726|PMID:35437209|PMID:36693175|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9341860|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 8762701 Ptch1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:7240710 20230505 OMIM 8762701 Ptch1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:16301862|PMID:16419085|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8782823|PMID:9620294 8762701 Ptch1 patched 1 gene DOID:2513 basal cell carcinoma ISO RGD:1319156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:11231326|PMID:11941477|PMID:15712338|PMID:16301862|PMID:16419085|PMID:16508594|PMID:17096318|PMID:18510667|PMID:22703879|PMID:23951062|PMID:24728327|PMID:24807215|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:28492532|PMID:29205322|PMID:29212164|PMID:29575684|PMID:29654263|PMID:30093976|PMID:30102335|PMID:30411536|PMID:31613886|PMID:31645765|PMID:32409749|PMID:33270637|PMID:33332384|PMID:33674644|PMID:8782823|PMID:8840969|PMID:9620294 8762701 Ptch1 patched 1 gene DOID:2513 basal cell carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20200609 RGD mRNA:increased expression:skin of body PMID:10504535|REF_RGD_ID:12801453 8762701 Ptch1 patched 1 gene DOID:3213 demyelinating disease treatment ISO RGD:1319157 D RGD:9068941 20200609 RGD PMID:15128833|REF_RGD_ID:12801445 8762701 Ptch1 patched 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:33372952 8762701 Ptch1 patched 1 gene DOID:3304 germinoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germinoma PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:3459 breast carcinoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:3491 Turner syndrome ISO RGD:1319156 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Turner syndrome PMID:25741868 8762701 Ptch1 patched 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:16475698|REF_RGD_ID:150523841 8762701 Ptch1 patched 1 gene DOID:3840 craniopharyngioma ISO RGD:1319156 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:26467025|PMID:28492532|PMID:29230040 8762701 Ptch1 patched 1 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20211203 RGD DNA:CNVs PMID:21889114|REF_RGD_ID:150524337 8762701 Ptch1 patched 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1319156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:4195 hyperglycemia ISO RGD:1319156 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:16804411|REF_RGD_ID:2324911 8762701 Ptch1 patched 1 gene DOID:4621 holoprosencephaly ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:11941477|PMID:17001668|PMID:21188540|PMID:22703879|PMID:22820256|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26893459|PMID:27153395|PMID:28492532|PMID:8302318 8762701 Ptch1 patched 1 gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:22407314|REF_RGD_ID:150523794 8762701 Ptch1 patched 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 8762701 Ptch1 patched 1 gene DOID:5522 basaloid squamous cell carcinoma ISO RGD:1319156 D RGD:9068941 20211126 RGD DNA:missense mutations, nonsense mutations PMID:25395299|REF_RGD_ID:150523793 8762701 Ptch1 patched 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:630 genetic disease ISO RGD:1319156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11941477|PMID:12879481|PMID:15545745|PMID:16301862|PMID:16419085|PMID:17001668|PMID:22313357|PMID:22703879|PMID:24204797|PMID:24529220|PMID:25403219|PMID:26356331|PMID:26467025|PMID:26604511|PMID:28492532|PMID:29212164|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911 8762701 Ptch1 patched 1 gene DOID:674 cleft palate ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16405370 8762701 Ptch1 patched 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:22911366|REF_RGD_ID:150523842 8762701 Ptch1 patched 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1319156 D RGD:9068941 20211126 RGD PMID:18538319|REF_RGD_ID:150523837 8762701 Ptch1 patched 1 gene DOID:768 retinoblastoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:24728327|PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:769 neuroblastoma ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:83 cataract ISO RGD:1319156 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cataract PMID:10564585|PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621425 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:23933201|REF_RGD_ID:12859044 8762701 Ptch1 patched 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319156 D RGD:9068941 20211126 RGD associated with colorectal cancer PMID:20230186|REF_RGD_ID:150523835 8762701 Ptch1 patched 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:621425 D RGD:9068941 20221201 RGD mRNA,protein:increased expression:choroid: PMID:21063852|REF_RGD_ID:12859045 8762701 Ptch1 patched 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621425 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 8762701 Ptch1 patched 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1319156 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10564585|PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 8762701 Ptch1 patched 1 gene DOID:9003071 Postaxial Polydactyly ISO RGD:1319156 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly PMID:25741868 8762701 Ptch1 patched 1 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1319156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME PMID:12204003|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:9003816 Macrocephaly ISO RGD:1319156 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 8762701 Ptch1 patched 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1319156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:33270637 8762701 Ptch1 patched 1 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:621425 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:22641469|REF_RGD_ID:12859031 8762701 Ptch1 patched 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 8762701 Ptch1 patched 1 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:1319156 D RGD:9068941 20211105 RGD DNA:hypermethylation:colon PMID:22945423|REF_RGD_ID:150520176 8762701 Ptch1 patched 1 gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:621425 D RGD:9068941 20200609 RGD PMID:24782623|REF_RGD_ID:12879405 8762701 Ptch1 patched 1 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1319156 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:10564585|PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1319157 D RGD:9068941 20211126 RGD PMID:19321799|REF_RGD_ID:150523834 8762701 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21520333|PMID:21834049|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29205322|PMID:29212164|PMID:29498494|PMID:29575684|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31437519|PMID:31645765|PMID:31655866|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32321774|PMID:32409749|PMID:33077954|PMID:33209614|PMID:33729574|PMID:34426522|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 8762701 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21234763|PMID:21325292|PMID:21520333|PMID:21834049|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27149842|PMID:27153395|PMID:27363716|PMID:27535533|PMID:27561271|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29205322|PMID:29212164|PMID:29498494|PMID:29575684|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31437519|PMID:31645765|PMID:31655866|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32321774|PMID:32409749|PMID:33077954|PMID:33209614|PMID:33729574|PMID:34426522|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 8762701 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21234763|PMID:21325292|PMID:21490102|PMID:21520333|PMID:21834049|PMID:22193408|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27149842|PMID:27153395|PMID:27363716|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:33077954|PMID:33209614|PMID:33270637|PMID:33332384|PMID:33609447|PMID:33729574|PMID:34426522|PMID:34698632|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 8762701 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34426522|PMID:34698632|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 8762701 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33209614|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34426522|PMID:34698632|PMID:34831015|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 8762701 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28492532|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33179747|PMID:33209614|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:34426522|PMID:34698632|PMID:34831015|PMID:35181726|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 8762701 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24807215|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28252636|PMID:28492532|PMID:28495808|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:29992659|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30256826|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30762128|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31613886|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33179747|PMID:33209614|PMID:33270637|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:33807452|PMID:34194672|PMID:34426522|PMID:34698632|PMID:34831015|PMID:35170016|PMID:35181726|PMID:36693175|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 8762701 Ptch1 patched 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319156 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10048928|PMID:10200051|PMID:10564585|PMID:10890722|PMID:11457640|PMID:11531849|PMID:11941477|PMID:12192414|PMID:12204003|PMID:12655573|PMID:12879481|PMID:12925203|PMID:1347096|PMID:15042702|PMID:15290653|PMID:15459969|PMID:15545745|PMID:15712338|PMID:16088933|PMID:16199547|PMID:16203740|PMID:16231297|PMID:16301862|PMID:16419085|PMID:16508594|PMID:16567768|PMID:16906569|PMID:16909134|PMID:16929110|PMID:16931872|PMID:17001668|PMID:17021131|PMID:17096318|PMID:17576681|PMID:18302678|PMID:18373848|PMID:18502968|PMID:18510667|PMID:19002359|PMID:19346217|PMID:19557015|PMID:20068110|PMID:20485063|PMID:21188540|PMID:21325292|PMID:21490102|PMID:21520333|PMID:21834049|PMID:22193408|PMID:22221699|PMID:22313357|PMID:22434048|PMID:22675565|PMID:22703879|PMID:22820256|PMID:22952776|PMID:22995991|PMID:23061468|PMID:23313819|PMID:23334667|PMID:23761049|PMID:23951062|PMID:24033266|PMID:24055113|PMID:24204797|PMID:24335643|PMID:24368541|PMID:24529220|PMID:24668667|PMID:24728327|PMID:24807215|PMID:24814739|PMID:24942795|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25403219|PMID:25525159|PMID:25567908|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26290144|PMID:26356331|PMID:26467025|PMID:26489027|PMID:26544948|PMID:26559152|PMID:26580448|PMID:26604511|PMID:26802149|PMID:26893459|PMID:27028851|PMID:27153395|PMID:27535533|PMID:27561271|PMID:27680694|PMID:27793025|PMID:27930734|PMID:27993330|PMID:28252636|PMID:28492532|PMID:28495808|PMID:28596197|PMID:28627087|PMID:28690523|PMID:28733979|PMID:28873162|PMID:28892064|PMID:29146900|PMID:29205322|PMID:29212164|PMID:29230040|PMID:29255261|PMID:29381605|PMID:29498494|PMID:29575684|PMID:29641532|PMID:29654263|PMID:29792231|PMID:29849051|PMID:29992659|PMID:30032850|PMID:30093976|PMID:30102335|PMID:30256826|PMID:30262796|PMID:30411536|PMID:30584090|PMID:30666157|PMID:30762128|PMID:30997576|PMID:31113992|PMID:31127104|PMID:31180159|PMID:31437519|PMID:31548691|PMID:31613886|PMID:31639285|PMID:31645765|PMID:31655866|PMID:31837199|PMID:31911633|PMID:32074614|PMID:32238911|PMID:32251017|PMID:32311334|PMID:32321774|PMID:32409749|PMID:32860743|PMID:32906206|PMID:33077954|PMID:33179747|PMID:33209614|PMID:33270637|PMID:33332384|PMID:33466296|PMID:33609447|PMID:33674644|PMID:33729574|PMID:33807452|PMID:34194672|PMID:34426522|PMID:34698632|PMID:34831015|PMID:35170016|PMID:35181726|PMID:36693175|PMID:8302318|PMID:8658145|PMID:8681379|PMID:8840969|PMID:8981943|PMID:9096761|PMID:9192811|PMID:9231911|PMID:9415689|PMID:9463336|PMID:9536098|PMID:9620294 8762701 Ptch1 patched 1 gene DOID:9007284 Precocious Puberty ISO RGD:1319156 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Precocious puberty PMID:25741868 8762701 Ptch1 patched 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 8762701 Ptch1 patched 1 gene DOID:9007729 Multiple Basal Cell Carcinoma ISO RGD:1319156 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, multiple PMID:24728327|PMID:25741868|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:9007798 Preaxial Polydactyly II ISO RGD:1319156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Polydactyly, preaxial II PMID:12204003|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 8762701 Ptch1 patched 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1319156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31837199|PMID:9536098 8762701 Ptch1 patched 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16405370|PMID:18539553 8762701 Ptch1 patched 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1319156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:26467025|PMID:28492532|PMID:28873162|PMID:32321774 8762701 Ptch1 patched 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8762701 Ptch1 patched 1 gene DOID:9296 cleft lip ISO RGD:1319156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16405370 8762735 Lrrc18 leucine rich repeat containing 18 gene DOID:11372 megacolon ISO RGD:1352045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8762735 Lrrc18 leucine rich repeat containing 18 gene DOID:5419 schizophrenia ISO RGD:1352045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8762735 Lrrc18 leucine rich repeat containing 18 gene DOID:630 genetic disease ISO RGD:1352045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762763 Slc26a3 solute carrier family 26 member 3 gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:1346275 D RGD:7240710 20180130 OMIM 8762763 Slc26a3 solute carrier family 26 member 3 gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:1346275 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE | ClinVar Annotator: match by term: Congenital chloride diarrhea | ClinVar Annotator: match by term: Darrow-Gamble disease | ClinVar Annotator: match by term: SLC26A3-related condition PMID:10671059|PMID:10881594|PMID:11302976|PMID:11524734|PMID:12411484|PMID:12442266|PMID:16199547|PMID:18216024|PMID:18728535|PMID:18847625|PMID:19861545|PMID:21127979|PMID:21150650|PMID:21332001|PMID:21394828|PMID:21694535|PMID:21853658|PMID:22779076|PMID:23274434|PMID:23361499|PMID:23756661|PMID:24033266|PMID:24350656|PMID:25568271|PMID:25711268|PMID:25741868|PMID:27525615|PMID:28422190|PMID:28492532|PMID:28644346|PMID:29086717|PMID:30775050|PMID:31325522|PMID:31680349|PMID:31976143|PMID:34503561|PMID:8896562|PMID:9554749|PMID:9718329 8762763 Slc26a3 solute carrier family 26 member 3 gene DOID:13250 diarrhea ISO RGD:1346275 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations PMID:8896562|REF_RGD_ID:1600011 8762763 Slc26a3 solute carrier family 26 member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8762763 Slc26a3 solute carrier family 26 member 3 gene DOID:630 genetic disease ISO RGD:1346275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8762763 Slc26a3 solute carrier family 26 member 3 gene DOID:8437 intestinal obstruction ISO RGD:1346275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal obstruction PMID:21394828|PMID:25741868|PMID:31680349|PMID:9718329 8762763 Slc26a3 solute carrier family 26 member 3 gene DOID:8488 polyhydramnios ISO RGD:1346275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:21394828|PMID:25741868|PMID:31680349|PMID:9718329 8762763 Slc26a3 solute carrier family 26 member 3 gene DOID:8577 ulcerative colitis ISO RGD:1346275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915573 8762763 Slc26a3 solute carrier family 26 member 3 gene DOID:9002135 Congenital Infantile Lactic Acidosis due to LAD Deficiency ISO RGD:1346275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to PMID:28492532|PMID:8968745|PMID:9934985 8762763 Slc26a3 solute carrier family 26 member 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1346275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:21394828|PMID:25741868|PMID:31680349|PMID:9718329 8762786 Cd151 CD151 molecule (Raph blood group) gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8762786 Cd151 CD151 molecule (Raph blood group) gene DOID:0080773 delta beta-thalassemia ISO RGD:733300 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8762786 Cd151 CD151 molecule (Raph blood group) gene DOID:0111969 immunodeficiency 39 ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8762786 Cd151 CD151 molecule (Raph blood group) gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8762786 Cd151 CD151 molecule (Raph blood group) gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8762786 Cd151 CD151 molecule (Raph blood group) gene DOID:630 genetic disease ISO RGD:733300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8762786 Cd151 CD151 molecule (Raph blood group) gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8762786 Cd151 CD151 molecule (Raph blood group) gene DOID:9004850 Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness ISO RGD:733300 D RGD:7240710 20180130 OMIM 8762786 Cd151 CD151 molecule (Raph blood group) gene DOID:9004850 Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness ISO RGD:733300 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness PMID:15265795|PMID:25741868|PMID:25741871|PMID:28492532 8762819 Ddx39b DExD-box helicase 39B gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:737407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8762819 Ddx39b DExD-box helicase 39B gene DOID:11372 megacolon ISO RGD:737407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8762819 Ddx39b DExD-box helicase 39B gene DOID:630 genetic disease ISO RGD:737407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762819 Ddx39b DExD-box helicase 39B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8762819 Ddx39b DExD-box helicase 39B gene DOID:9744 type 1 diabetes mellitus ISO RGD:737407 D RGD:9068941 20200609 RGD PMID:11756005|REF_RGD_ID:13702905 8762838 Casc3 CASC3 exon junction complex subunit gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1353876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8762838 Casc3 CASC3 exon junction complex subunit gene DOID:630 genetic disease ISO RGD:1353876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762860 Cdc42ep2 CDC42 effector protein 2 gene DOID:1059 intellectual disability ISO RGD:1321045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8762860 Cdc42ep2 CDC42 effector protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8762860 Cdc42ep2 CDC42 effector protein 2 gene DOID:2746 glycogen storage disease V ISO RGD:1321045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8762860 Cdc42ep2 CDC42 effector protein 2 gene DOID:3070 high grade glioma ISO RGD:1321045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8762860 Cdc42ep2 CDC42 effector protein 2 gene DOID:630 genetic disease ISO RGD:1321045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762860 Cdc42ep2 CDC42 effector protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321045 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8762860 Cdc42ep2 CDC42 effector protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8762875 Mc3r melanocortin 3 receptor gene DOID:630 genetic disease ISO RGD:1345990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762875 Mc3r melanocortin 3 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:3056 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 8762875 Mc3r melanocortin 3 receptor gene DOID:9970 obesity ISO RGD:1345990 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Obesity PMID:19091795|PMID:25741868|PMID:28492532 8762875 Mc3r melanocortin 3 receptor gene DOID:9970 obesity susceptibility ISO RGD:1345990 D RGD:9068941 20240208 RGD DNA:missense mutations:cds:p.T6K, p.V81I (human) PMID:16123355|REF_RGD_ID:6484587 8762880 Actl6a actin like 6A gene DOID:0050840 cervical dystonia ISO RGD:1603412 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Torticollis PMID:25741868|PMID:28649782 8762880 Actl6a actin like 6A gene DOID:0060320 inguinal hernia ISO RGD:1603412 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868|PMID:28649782 8762880 Actl6a actin like 6A gene DOID:0060321 umbilical hernia ISO RGD:1603412 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Umbilical hernia PMID:25741868|PMID:28649782 8762880 Actl6a actin like 6A gene DOID:0111546 Currarino syndrome ISO RGD:1603412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8762880 Actl6a actin like 6A gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1603412 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 8762880 Actl6a actin like 6A gene DOID:1882 atrial heart septal defect ISO RGD:1603412 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28649782 8762880 Actl6a actin like 6A gene DOID:630 genetic disease ISO RGD:1603412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762880 Actl6a actin like 6A gene DOID:8534 gastroesophageal reflux disease ISO RGD:1603412 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868|PMID:28649782 8762880 Actl6a actin like 6A gene DOID:9000727 Syncope ISO RGD:1603412 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Syncope PMID:25741868|PMID:28649782 8762880 Actl6a actin like 6A gene DOID:9007921 Spina Bifida Cystica ISO RGD:1307747 D RGD:9068941 20200609 RGD PMID:23677776|REF_RGD_ID:9587760 8762880 Actl6a actin like 6A gene DOID:9008086 Developmental Disabilities ISO RGD:1603412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28649782 8762910 Triml1 tripartite motif family like 1 gene DOID:10283 prostate cancer ISO RGD:1605231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8762910 Triml1 tripartite motif family like 1 gene DOID:12849 autistic disorder ISO RGD:1605231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8762910 Triml1 tripartite motif family like 1 gene DOID:2229 factor XI deficiency ISO RGD:1605231 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 8762910 Triml1 tripartite motif family like 1 gene DOID:630 genetic disease ISO RGD:1605231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762910 Triml1 tripartite motif family like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8762922 Ccnj cyclin J gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1314992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 8762922 Ccnj cyclin J gene DOID:630 genetic disease ISO RGD:1314992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762947 Fbxo16 F-box protein 16 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1312847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8762947 Fbxo16 F-box protein 16 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1312847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8762947 Fbxo16 F-box protein 16 gene DOID:630 genetic disease ISO RGD:1312847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762968 Rcor3 REST corepressor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1350848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8762968 Rcor3 REST corepressor 3 gene DOID:630 genetic disease ISO RGD:1350848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8762968 Rcor3 REST corepressor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8762999 Trmt9b tRNA methyltransferase 9B (putative) gene DOID:630 genetic disease ISO RGD:1602875 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763015 Samd14 sterile alpha motif domain containing 14 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1602057 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25741868|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 8763015 Samd14 sterile alpha motif domain containing 14 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1602057 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8763015 Samd14 sterile alpha motif domain containing 14 gene DOID:630 genetic disease ISO RGD:1602057 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8763029 Plek2 pleckstrin 2 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1314027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 8763029 Plek2 pleckstrin 2 gene DOID:630 genetic disease ISO RGD:1314027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763029 Plek2 pleckstrin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:0060902 Norman-Roberts syndrome ISO RGD:1603482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:0110513 autosomal recessive nonsyndromic deafness 61 ISO RGD:1603482 D RGD:7240710 20180130 OMIM 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:0110513 autosomal recessive nonsyndromic deafness 61 ISO RGD:1603482 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 61 PMID:12719379|PMID:16086836|PMID:24033266|PMID:24164807|PMID:25262649|PMID:25741868|PMID:26467025|PMID:28492532 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:10003 sensorineural hearing loss ISO RGD:1621439 D RGD:9068941 20200609 RGD mRNA:decreased expression:organ of Corti (mouse) PMID:19363478|REF_RGD_ID:9585667 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:1459 hypothyroidism ISO RGD:1621439 D RGD:9068941 20200609 RGD Secondary Hypothyroidism;protein:altered expression:cochlear outer hair cell (mouse) PMID:19176829|REF_RGD_ID:9585687 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:1459 hypothyroidism ISO RGD:69334 D RGD:9068941 20200609 RGD protein:altered expression:cochlear outer hair cell (rat) PMID:17520268|REF_RGD_ID:9585686 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:630 genetic disease ISO RGD:1603482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:9000307 Presbycusis ISO RGD:69334 D RGD:9068941 20200609 RGD protein:altered expression:cochlear outer hair cell (rat) PMID:19111601|REF_RGD_ID:9585690 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1621439 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cochlea (mouse) PMID:24376553|REF_RGD_ID:9585684 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:9004538 Hearing Loss ISO RGD:1603482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:30311386 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:9004538 Hearing Loss no_association ISO RGD:1603482 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS2-2A>G (human) PMID:16086836|REF_RGD_ID:9479051 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1603482 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS2-2A>G (human) PMID:23554706|REF_RGD_ID:7364803 8763051 Slc26a5 solute carrier family 26 member 5 gene DOID:9008681 Deafness ISO RGD:1603482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12719379 8763079 Tef TEF transcription factor, PAR bZIP family member gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345103 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8763079 Tef TEF transcription factor, PAR bZIP family member gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1345103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8763079 Tef TEF transcription factor, PAR bZIP family member gene DOID:630 genetic disease ISO RGD:1345103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763089 Ppp1r36 protein phosphatase 1 regulatory subunit 36 gene DOID:630 genetic disease ISO RGD:1319175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763104 Gas2l2 growth arrest specific 2 like 2 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1317311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 8763104 Gas2l2 growth arrest specific 2 like 2 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1317311 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 8763104 Gas2l2 growth arrest specific 2 like 2 gene DOID:0111858 primary ciliary dyskinesia 41 ISO RGD:1317311 D RGD:7240710 20190626 OMIM 8763104 Gas2l2 growth arrest specific 2 like 2 gene DOID:0111858 primary ciliary dyskinesia 41 ISO RGD:1317311 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 41 | ClinVar Annotator: match by term: GAS2L2-related condition PMID:25741868|PMID:30665704 8763104 Gas2l2 growth arrest specific 2 like 2 gene DOID:630 genetic disease ISO RGD:1317311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8763104 Gas2l2 growth arrest specific 2 like 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317311 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:30665704 8763118 Mrpl44 mitochondrial ribosomal protein L44 gene DOID:0111469 combined oxidative phosphorylation deficiency 16 ISO RGD:1319960 D RGD:7240710 20180130 OMIM 8763118 Mrpl44 mitochondrial ribosomal protein L44 gene DOID:0111469 combined oxidative phosphorylation deficiency 16 ISO RGD:1319960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency PMID:23315540|PMID:25326637|PMID:25741868|PMID:25797485|PMID:26001801|PMID:26968897|PMID:28492532|PMID:33726816|PMID:34140213 8763118 Mrpl44 mitochondrial ribosomal protein L44 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1319960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 8763118 Mrpl44 mitochondrial ribosomal protein L44 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1319960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:28492532 8763118 Mrpl44 mitochondrial ribosomal protein L44 gene DOID:630 genetic disease ISO RGD:1319960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8763118 Mrpl44 mitochondrial ribosomal protein L44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8763126 Ggct gamma-glutamylcyclotransferase gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1312569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 8763126 Ggct gamma-glutamylcyclotransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8763126 Ggct gamma-glutamylcyclotransferase gene DOID:630 genetic disease ISO RGD:1312569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763126 Ggct gamma-glutamylcyclotransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1344540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:16199547|PMID:19494218|PMID:21792839|PMID:22940634|PMID:26100510|PMID:28492532 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0050486 exanthem ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16096327 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:12184521|REF_RGD_ID:10450573 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:22146561|REF_RGD_ID:6906895 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0060496 respiratory allergy ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:12663678|REF_RGD_ID:4143222 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:15258192|REF_RGD_ID:8549793 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0080162 lupus nephritis resistance ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human) PMID:20538031|REF_RGD_ID:6907068 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0080178 mucositis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20844880 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1344540 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with morbid obesity, protein:increased expression:serum (human) PMID:22027586|REF_RGD_ID:14401582 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0080474 pustular psoriasis 14 ISO RGD:1344540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized pustular psoriasis PMID:19494218|PMID:21792839|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0080600 COVID-19 ISO RGD:1344540 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) PMID:17258699|REF_RGD_ID:6907128 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:7736749|REF_RGD_ID:8551826 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:12186498|REF_RGD_ID:7387296 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0081120 Graves ophthalmopathy susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:snp:exon:11100 C>T (rs315952) (human) PMID:19702713|REF_RGD_ID:8549808 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:0081267 graft-versus-host disease ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8049450|REF_RGD_ID:6909143 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10126 keratoconus susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:snp:intron:c.214+242C>T (human) PMID:23462747|REF_RGD_ID:8549797 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10140 dry eye syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:tears (human) PMID:20508732|REF_RGD_ID:8551707 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10247 pleurisy ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8491511|REF_RGD_ID:4143233 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10325 silicosis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:11264025|REF_RGD_ID:4142816 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10325 silicosis treatment ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:23842733|REF_RGD_ID:8551847 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10327 anthracosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10459 common cold ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:18279051|REF_RGD_ID:4143207 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10459 common cold ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:10358201|REF_RGD_ID:4143183 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10533 viral pneumonia ISO RGD:1344540 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10534 stomach cancer ISO RGD:1344540 D RGD:7240710 20220209 OMIM 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10591 pre-eclampsia ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21126355|REF_RGD_ID:6906962 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:106 pleural tuberculosis ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeat (human) PMID:10377182|REF_RGD_ID:4143226 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10763 hypertension ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:11585563|REF_RGD_ID:1626668 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:10763 hypertension susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:11840488|REF_RGD_ID:1626667 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:19489682|REF_RGD_ID:6907081 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup multiple (human) PMID:16698387|REF_RGD_ID:6907367 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:9186886|REF_RGD_ID:6909151 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11204 allergic conjunctivitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:10549671|REF_RGD_ID:8549802 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11382 corneal neovascularization treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in mouse model PMID:10359324|REF_RGD_ID:8549790 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11382 corneal neovascularization treatment ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:12202509|REF_RGD_ID:8549796 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8810593|REF_RGD_ID:4143190 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11394 adult respiratory distress syndrome ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:22810359|REF_RGD_ID:6909177 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11394 adult respiratory distress syndrome disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8686976|REF_RGD_ID:4143191 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11400 pyelonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:8640042|REF_RGD_ID:6907372 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11446 sciatic neuropathy ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:12574433|REF_RGD_ID:7175064 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11476 osteoporosis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:8182127|REF_RGD_ID:8551834 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11573 listeriosis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8855299|REF_RGD_ID:11522760 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15539764|REF_RGD_ID:4143172 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:: PMID:22882323|REF_RGD_ID:12910846 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11656 cicatricial pemphigoid ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:11448121|REF_RGD_ID:8549794 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11713 diabetic angiopathy ISO RGD:1344540 D RGD:7240710 20180130 OMIM 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11713 diabetic angiopathy ISO RGD:1344540 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 4 PMID:25741868|PMID:28492532 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:1184 nephrotic syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human) PMID:14758530|REF_RGD_ID:6907374 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:11981 morbid obesity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11889184|REF_RGD_ID:1626666 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:12373296|REF_RGD_ID:6909171 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased concentration:serum (human) PMID:9802632|REF_RGD_ID:6909134 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:12849 autistic disorder ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11803234 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:1287 cardiovascular system disease ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:12894 Sjogren's syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:9646842|REF_RGD_ID:8549786 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:12894 Sjogren's syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva (human) PMID:11527941|REF_RGD_ID:8549807 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:7637259|REF_RGD_ID:8551712 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:13189 gout ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18403674 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:13241 Behcet's disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14600787|REF_RGD_ID:7401213 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:13250 diarrhea ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20844880 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:13406 pulmonary sarcoidosis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8239179|REF_RGD_ID:4143198 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:1407 anterior uveitis ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in rabbit model PMID:19693263|REF_RGD_ID:8551704 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:: PMID:23014359|REF_RGD_ID:11522756 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:14115 toxic shock syndrome treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:15516267|REF_RGD_ID:8551736 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:14654 prostatitis ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (mouse) PMID:21681776|REF_RGD_ID:6906929 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:1485 cystic fibrosis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:blood, neutrophil PMID:12547728|REF_RGD_ID:4143175 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:1485 cystic fibrosis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:10515411|REF_RGD_ID:4143181 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:1532 pleural disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:8325116|REF_RGD_ID:4143201 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:1596 depressive disorder ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Status Epilepticus; rat model treated with human protein PMID:22427156|REF_RGD_ID:7174694 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:178 vascular disease ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein; associated with Diabetes Mellitus, Type 2 PMID:22081301|REF_RGD_ID:6906924 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:1824 status epilepticus ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19010416 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:1909 melanoma ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:8168095|REF_RGD_ID:6909140 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:224 transient cerebral ischemia ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:20412072|REF_RGD_ID:8551852 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:224 transient cerebral ischemia ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:15837124|REF_RGD_ID:1626674 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2316 brain ischemia ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9236716 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2377 multiple sclerosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25458313 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2799 bronchiolitis obliterans ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11889437|REF_RGD_ID:4143176 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9176529 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:16724092|PMID:18763028|REF_RGD_ID:4142802|REF_RGD_ID:4143209 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA, protein:repeat, decreased expression (human) PMID:11027520|REF_RGD_ID:4143224 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma severity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10843772|REF_RGD_ID:4143225 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNP: :rs2234678 (human) PMID:17107994|REF_RGD_ID:4143208 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15020290|REF_RGD_ID:4143216 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNPs: :rs447713, rs3087271 (human) PMID:16409203|REF_RGD_ID:4143163 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2841 asthma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:18926055|REF_RGD_ID:4142864 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:285 hairy cell leukemia treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:9613675|REF_RGD_ID:11522762 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:289 endometriosis ISO RGD:1344540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2921 glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:22241891|REF_RGD_ID:6906885 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2921 glomerulonephritis ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:21304992|REF_RGD_ID:6906960 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1344540 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:12837270|PMID:16519819|PMID:19729864|PMID:20842532|PMID:21279638|PMID:22032624|PMID:24033266|PMID:24863340|PMID:25501066|PMID:25741868|PMID:28236224|PMID:28492532 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2942 bronchiolitis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8608647|REF_RGD_ID:4143192 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2957 pulmonary tuberculosis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:14619382|REF_RGD_ID:4143174 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2957 pulmonary tuberculosis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:10543265|REF_RGD_ID:4143180 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2957 pulmonary tuberculosis severity ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:10631206|REF_RGD_ID:4143179 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:10916103|REF_RGD_ID:6906961 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:9370186|REF_RGD_ID:6909150 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:serum, urine (human) PMID:16209246|REF_RGD_ID:6907414 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:10079261|REF_RGD_ID:6909131 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:1344540 D RGD:9068941 20200609 RGD response to immunoglobulin therapy PMID:9844059|REF_RGD_ID:6909132 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:10566895|REF_RGD_ID:6907427 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:2986 IgA glomerulonephritis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951) (human) PMID:19280228|REF_RGD_ID:6907082 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3021 acute kidney failure ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Asphyxia; rat model treated with human protein PMID:16259926|REF_RGD_ID:6907369 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3021 acute kidney failure ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Sepsis PMID:16763508|REF_RGD_ID:6907360 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3021 acute kidney failure ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:14610321|REF_RGD_ID:6907375 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3082 interstitial lung disease ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:plasma PMID:20404807|REF_RGD_ID:4142853 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3082 interstitial lung disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:8342915|REF_RGD_ID:4143199 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19291375|REF_RGD_ID:4142861 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:18364273|REF_RGD_ID:4142868 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:18579366|REF_RGD_ID:4142866 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:7790404|REF_RGD_ID:8551708 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:37 skin disease ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338|PMID:7706905 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18403674 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:7767546|REF_RGD_ID:4143194 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17056243|REF_RGD_ID:4142874 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3770 pulmonary fibrosis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:10934117|REF_RGD_ID:4143177 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3904 bronchus carcinoma ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression, alternative forms:lung PMID:8030748|REF_RGD_ID:4143231 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:16126303|REF_RGD_ID:4143167 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:4195 hyperglycemia ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; protein:decreased expression:urine (human) PMID:12679866|REF_RGD_ID:6907426 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:4371 Schnitzler syndrome ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16096327 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:4371 Schnitzler syndrome susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:16096327|REF_RGD_ID:11522758 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:4450 renal cell carcinoma ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:17031403|REF_RGD_ID:6907413 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:4483 rhinitis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:15178892|REF_RGD_ID:4143215 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:4483 rhinitis ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Hypersensitivity PMID:10224452|REF_RGD_ID:4143227 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:4483 rhinitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Hypersensitivity;DNA:repeat:intron (human) PMID:14533660|REF_RGD_ID:4142859 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:20071465|REF_RGD_ID:4145614 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:5199 ureteral obstruction ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:21975862|REF_RGD_ID:6906925 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:5199 ureteral obstruction ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:11123344|REF_RGD_ID:6909121 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:16369129|REF_RGD_ID:4143213 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:1344540 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchioalveolar lavage fluid, neutrophil (rat) PMID:1385928|REF_RGD_ID:8551846 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:552 pneumonia ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17569781|REF_RGD_ID:4142871 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:552 pneumonia disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:18838927|REF_RGD_ID:4142865 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:552 pneumonia no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19900796|REF_RGD_ID:4143204 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:557 kidney disease ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9370186 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:576 proteinuria ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9370186 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:576 proteinuria ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:12138282|REF_RGD_ID:6909118 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:5844 myocardial infarction ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18474815|PMID:19005744 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:630 genetic disease ISO RGD:1344540 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:631 fibromyalgia severity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10341365|REF_RGD_ID:8549787 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:633 myositis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10886238 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:633 myositis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle (human) PMID:18251582|REF_RGD_ID:8549795 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:6432 pulmonary hypertension ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:7946395|REF_RGD_ID:4143197 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:6713 cerebrovascular disease ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:684 hepatocellular carcinoma ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:7148 rheumatoid arthritis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19192274|PMID:7706905 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:7148 rheumatoid arthritis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:19447938|REF_RGD_ID:7174696 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:7148 rheumatoid arthritis ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:10637275|REF_RGD_ID:8549810 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:783 end stage renal disease ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:g.14709C>T rs315952 (human) PMID:12837270|REF_RGD_ID:6907105 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:783 end stage renal disease ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS6+327A>G rs452204 (human) PMID:20551628|REF_RGD_ID:6907070 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:783 end stage renal disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:16556139|REF_RGD_ID:6907368 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:783 end stage renal disease disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:17224277|REF_RGD_ID:6907131 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:783 end stage renal disease susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) PMID:16766392|REF_RGD_ID:6907370 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:784 chronic kidney disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23024164|REF_RGD_ID:6906880 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:784 chronic kidney disease susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human) PMID:22795294|REF_RGD_ID:6906881 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:824 periodontitis ISO RGD:1344540 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:22795294|REF_RGD_ID:6906881 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:824 periodontitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:22795294|REF_RGD_ID:6906881 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:8552 chronic myeloid leukemia severity ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:7949186|REF_RGD_ID:10450889 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:8577 ulcerative colitis ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:8119534|REF_RGD_ID:6909136 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:874 bacterial pneumonia ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:18322242|PMID:18596024|REF_RGD_ID:4143205|REF_RGD_ID:4143206 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:: PMID:20626741|REF_RGD_ID:11528541 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:8927 learning disability ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25665855 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:8927 learning disability ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:10751560|REF_RGD_ID:7175060 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:urine (human) PMID:9090470|REF_RGD_ID:6909172 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000039 Spinal Cord Injuries ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:17964877|REF_RGD_ID:6907102 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000039 Spinal Cord Injuries ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:16038625|REF_RGD_ID:1626673 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000099 Experimental Colitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:8978354|REF_RGD_ID:8551835 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000217 Stomach Neoplasms ISO RGD:1344540 D RGD:9068941 20220217 CTD CTD Direct Evidence: marker/mechanism 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000325 Abscess severity ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:8872492|REF_RGD_ID:8551794 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:22679224|REF_RGD_ID:7051590 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000641 Pain ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15317861 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14754758 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:14754758|REF_RGD_ID:4143217 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000784 Fibrosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7637259 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:22782699|REF_RGD_ID:6909178 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000972 Fever ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16096327 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000972 Fever ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:16455768|REF_RGD_ID:1626671 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9000998 Brain Injuries ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25665855 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9001020 Eye Manifestations ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:serum (human) PMID:9152064|REF_RGD_ID:8549789 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9001039 Leukocytosis ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Meningitis, Listeria; PMID:10085034|REF_RGD_ID:11522759 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9001109 Anorexia ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25392278 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9001109 Anorexia ISO RGD:621159 D RGD:9068941 20200609 RGD associated with Adenocarcinoma;mRNA:increased expression:cerebral cortex, hypothalamus (rat) PMID:9688694|REF_RGD_ID:8551744 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9001142 Drug-Induced Agranulocytosis ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Leukemia;protein:decreased expression:serum: PMID:8698137|REF_RGD_ID:11528539 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9001164 Proctocolitis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased concentration:serum (human) PMID:9802632|REF_RGD_ID:6909134 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9001310 Tobacco Use Disorder treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Graves Ophthalmopathy PMID:10792346|REF_RGD_ID:8549806 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9001462 Meibomian Gland Dysfunction ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:tears (human) PMID:20508732|REF_RGD_ID:8551707 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9001488 Human Influenza ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:9439800|REF_RGD_ID:4143228 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9001488 Human Influenza disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20840779|REF_RGD_ID:4143203 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9001831 Lichen Sclerosus et Atrophicus severity ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:7927338|REF_RGD_ID:6909135 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:9000676|REF_RGD_ID:6909138 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:12451245|REF_RGD_ID:8551710 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:17286233|REF_RGD_ID:6909120 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:16174285|REF_RGD_ID:6907371 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15317861|PMID:17174526|PMID:20937348|PMID:8864563 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental; rat model treated with human protein PMID:22933159|REF_RGD_ID:6909175 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:23092240|REF_RGD_ID:6909165 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia severity ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:10903985|REF_RGD_ID:8549800 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002211 Hyperalgesia treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:17959986|REF_RGD_ID:7401210 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:10870116|REF_RGD_ID:11522755 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16106254|PMID:16284379 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:733437 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:15795329|REF_RGD_ID:8551728 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:23006786|REF_RGD_ID:6907376 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:15270736|REF_RGD_ID:1626677 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:popliteal lymph node (rat) PMID:10921508|REF_RGD_ID:8551741 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:22267332|REF_RGD_ID:8549801 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:12727108|REF_RGD_ID:8551745 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002676 Cerebral Hemorrhage ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum (rat) PMID:22707991|REF_RGD_ID:6997504 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:14753487|REF_RGD_ID:8551833 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:7593560|REF_RGD_ID:8551836 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002847 Serositis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:repeats, haplotype:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:17596285|REF_RGD_ID:5508454 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002906 Multiple Organ Failure ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:19241361|REF_RGD_ID:6907089 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002906 Multiple Organ Failure ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Wounds and Injuries;protein:increased expression:plasma PMID:10670873|REF_RGD_ID:4143178 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9002928 Colonic Neoplasms ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18987561 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9003223 Corneal Graft Rejection ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:23723965|REF_RGD_ID:9684950 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9003311 Urinary Calculi susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats, haplotype:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 IL1RN*3 (human) PMID:18186699|REF_RGD_ID:6907399 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:haplotype::rs2232354(human) PMID:17413037|REF_RGD_ID:11528540 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004283 Transplant Rejection treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD cornea transplant; human protein in a mouse model PMID:9175817|REF_RGD_ID:8549799 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004462 Atrophy ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7637259 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004484 Sepsis ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8196140|REF_RGD_ID:6909139 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004484 Sepsis ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland (rat) PMID:10048466|REF_RGD_ID:7175061 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004484 Sepsis ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20454520|REF_RGD_ID:4142852 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004484 Sepsis disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats: : PMID:11876758|REF_RGD_ID:11528543 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004484 Sepsis severity ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:17014550|REF_RGD_ID:6907358 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004484 Sepsis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:: PMID:22882323|REF_RGD_ID:12910846 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27567548 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004590 Acute Liver Failure ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20644519 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004590 Acute Liver Failure ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human gene-expressing stem cells PMID:22844472|REF_RGD_ID:6909176 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004610 Acute Lung Injury ISO RGD:621159 D RGD:9068941 20200609 RGD PMID:8613550|REF_RGD_ID:4143193 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004610 Acute Lung Injury ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15970097|REF_RGD_ID:4143168 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9004960 Chronic Anterior Uveitis severity ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:snp:exon:g.2018T>C (human) PMID:17005410|REF_RGD_ID:8549792 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:21890879|REF_RGD_ID:6771361 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9005372 Inflammation ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25665855 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9005372 Inflammation ISO RGD:621159 D RGD:9068941 20200609 RGD associated with Hypersensitivity, Delayed;protein:increased expression:brain, plasma PMID:15050649|REF_RGD_ID:1626679 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in a rat model PMID:17221214|REF_RGD_ID:8551855 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:19545727|PMID:8037760|REF_RGD_ID:6907397|REF_RGD_ID:6907425 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in mouse model PMID:16009838|REF_RGD_ID:8549788 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9005749 Necrosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1838896|PMID:20644519 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9005930 Endotoxemia ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, spleen, liver (rat) PMID:1385928|REF_RGD_ID:8551846 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9005930 Endotoxemia treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:8855299|REF_RGD_ID:11522760 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9006182 Carotid Artery Injuries ISO RGD:1344540 D RGD:9068941 20200609 RGD human gene in rat model PMID:12754378|REF_RGD_ID:2316108 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:9555664|REF_RGD_ID:6909149 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:18363573|REF_RGD_ID:6907101 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:16849996|REF_RGD_ID:6907359 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a rat model PMID:23077050|REF_RGD_ID:8551854 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9006771 Chronic Rhinosinusitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup I/II alleles (human) PMID:16549749|REF_RGD_ID:8549791 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344540 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9006890 Chronic Uveitis ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:10694897|REF_RGD_ID:8549804 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNP: :c.390T>C (rs315952) (human) PMID:19258923|REF_RGD_ID:4142862 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:733437 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea (mouse) PMID:9423885|REF_RGD_ID:8549805 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:11895986|REF_RGD_ID:7401195 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9007096 Stroke ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9007096 Stroke ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:22781338|REF_RGD_ID:6909180 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1344540 D RGD:7240710 20180606 OMIM 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1344540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis PMID:12837270|PMID:16199547|PMID:16519819|PMID:17576681|PMID:19280228|PMID:19494218|PMID:19494219|PMID:19729864|PMID:20213597|PMID:20842532|PMID:21279638|PMID:21792839|PMID:22032624|PMID:22127713|PMID:22940634|PMID:23698098|PMID:24033266|PMID:24863340|PMID:25501066|PMID:25741868|PMID:26100510|PMID:28236224|PMID:28492532|PMID:32819369|PMID:9536098 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9007346 Cachexia ISO RGD:621159 D RGD:9068941 20200609 RGD associated with Inflammation PMID:15005009|REF_RGD_ID:1626680 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9007417 Pseudomonas Infections ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:8327288|REF_RGD_ID:4143202 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2234663 (human) PMID:23461376|REF_RGD_ID:11051970 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:22649318|REF_RGD_ID:7174360 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9007896 Sclerosis ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7637259 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9007956 Febrile Seizures ISO RGD:1344540 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:16393156|REF_RGD_ID:1626672 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9007964 Arsenic Poisoning ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9008413 Oligoanuria ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Hemolytic-Uremic Syndrome; protein:increased expression:blood (human) PMID:10603133|REF_RGD_ID:6909130 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1344540 D RGD:9068941 20200609 RGD PMID:16899778|REF_RGD_ID:8549803 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:1344540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7706905 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9008609 Endotoxin-Induced Uveitis ISO RGD:621159 D RGD:9068941 20200609 RGD mRNA:increased expression:uvea, retina (rat) PMID:7928184|REF_RGD_ID:8551705 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9008609 Endotoxin-Induced Uveitis susceptibility ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:22267332|REF_RGD_ID:8549801 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9074 systemic lupus erythematosus ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:g.14709C>T rs315952 (human) PMID:17176440|REF_RGD_ID:6907356 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9074 systemic lupus erythematosus ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:20805419|REF_RGD_ID:6906963 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:1344540 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; DNA:snp:intron:IVS3+102A>G rs3213448 (human) PMID:21205020|REF_RGD_ID:7175255 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:8786086|REF_RGD_ID:6907412 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2, IL1RN*3 (human) PMID:17069782|REF_RGD_ID:6907409 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9498 pulmonary eosinophilia ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar lavage: PMID:24706315|REF_RGD_ID:11528542 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9538 multiple myeloma ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:snp: :11100C>T (human) PMID:17926179|REF_RGD_ID:11051973 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9538 multiple myeloma no_association ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:10848780|REF_RGD_ID:11522764 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9588 encephalitis ISO RGD:621159 D RGD:9068941 20200609 RGD protein:increased expression:right hippocampus, plasma (rat) PMID:15020061|REF_RGD_ID:8551849 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344540 D RGD:9068941 20200609 RGD mouse model treated with human protein PMID:9158104|REF_RGD_ID:6907407 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344540 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9112337|REF_RGD_ID:6907403 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:986 alopecia areata severity ISO RGD:1344540 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) PMID:8077705|REF_RGD_ID:6909137 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9938 dacryocystitis treatment ISO RGD:1344540 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:24068863|REF_RGD_ID:8551706 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9970 obesity ISO RGD:1344540 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue PMID:12716739|REF_RGD_ID:1626665 8763134 Il1rn interleukin 1 receptor antagonist gene DOID:9970 obesity ISO RGD:733437 D RGD:9068941 20200609 RGD PMID:12975454|REF_RGD_ID:1626664 8763150 Uevld UEV and lactate/malate dehyrogenase domains gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1605360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 8763150 Uevld UEV and lactate/malate dehyrogenase domains gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1605360 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8763150 Uevld UEV and lactate/malate dehyrogenase domains gene DOID:1059 intellectual disability ISO RGD:1605360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8763150 Uevld UEV and lactate/malate dehyrogenase domains gene DOID:630 genetic disease ISO RGD:1605360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763174 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731556 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8763174 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8763174 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8763174 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:2340 craniosynostosis ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8763174 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731557 D RGD:9068941 20220825 MouseDO 8763174 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:630 genetic disease ISO RGD:731556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763174 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8763174 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:9269 maple syrup urine disease ISO RGD:731556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8763174 Psmc4 proteasome 26S subunit, ATPase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8763191 Actl7a actin like 7A gene DOID:12336 male infertility ISO RGD:1312292 D RGD:9068941 20200609 RGD PMID:26957350|REF_RGD_ID:13831339 8763191 Actl7a actin like 7A gene DOID:4006 bladder urothelial carcinoma ISO RGD:1312292 D RGD:9068941 20200609 RGD PMID:29058301|REF_RGD_ID:13831338 8763191 Actl7a actin like 7A gene DOID:630 genetic disease ISO RGD:1312292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763191 Actl7a actin like 7A gene DOID:9003593 Spermatogenic Failure 86 ISO RGD:1312292 D RGD:7240710 20230906 OMIM 8763191 Actl7a actin like 7A gene DOID:9003593 Spermatogenic Failure 86 ISO RGD:1312292 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 86 PMID:32923619|PMID:34727571|PMID:36593593|PMID:37004249 8763200 Spats1 spermatogenesis associated serine rich 1 gene DOID:630 genetic disease ISO RGD:736705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763213 Prr19 proline rich 19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8763213 Prr19 proline rich 19 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8763213 Prr19 proline rich 19 gene DOID:2340 craniosynostosis ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8763213 Prr19 proline rich 19 gene DOID:5419 schizophrenia ISO RGD:1604489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8763213 Prr19 proline rich 19 gene DOID:630 genetic disease ISO RGD:1604489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763213 Prr19 proline rich 19 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8763213 Prr19 proline rich 19 gene DOID:9269 maple syrup urine disease ISO RGD:1604489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8763230 Lss lanosterol synthase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8763230 Lss lanosterol synthase gene DOID:0080582 hypotrichosis 14 ISO RGD:736635 D RGD:7240710 20190315 OMIM 8763230 Lss lanosterol synthase gene DOID:0080582 hypotrichosis 14 ISO RGD:736635 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypotrichosis 14 PMID:25741868|PMID:28492532|PMID:30401459|PMID:30723320|PMID:33155697|PMID:35803560 8763230 Lss lanosterol synthase gene DOID:0080950 alopecia-mental retardation syndrome 4 ISO RGD:736635 D RGD:7240710 20200429 OMIM 8763230 Lss lanosterol synthase gene DOID:0080950 alopecia-mental retardation syndrome 4 ISO RGD:736635 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30401459|PMID:30723320|PMID:33155697|PMID:35803560|PMID:9536098 8763230 Lss lanosterol synthase gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8763230 Lss lanosterol synthase gene DOID:0110266 cataract 9 multiple types ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8763230 Lss lanosterol synthase gene DOID:0110267 cataract 44 ISO RGD:736635 D RGD:7240710 20180130 OMIM 8763230 Lss lanosterol synthase gene DOID:0110267 cataract 44 ISO RGD:736635 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cataract 44 PMID:25741868|PMID:28492532 8763230 Lss lanosterol synthase gene DOID:11100 Q fever ISO RGD:736635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 8763230 Lss lanosterol synthase gene DOID:12849 autistic disorder ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8763230 Lss lanosterol synthase gene DOID:630 genetic disease ISO RGD:736635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8763230 Lss lanosterol synthase gene DOID:83 cataract ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 8763230 Lss lanosterol synthase gene DOID:891 progressive myoclonus epilepsy ISO RGD:736635 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8763230 Lss lanosterol synthase gene DOID:9000808 Hypercholesterolemia ISO RGD:733768 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25168180|REF_RGD_ID:13782271 8763230 Lss lanosterol synthase gene DOID:9263 homocystinuria ISO RGD:736635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8763230 Lss lanosterol synthase gene DOID:9455 lipid storage disease ISO RGD:736635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 8763230 Lss lanosterol synthase gene DOID:9562 primary ciliary dyskinesia ISO RGD:736635 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8763266 Ipo11 importin 11 gene DOID:630 genetic disease ISO RGD:1322430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763308 Ccz1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated gene DOID:0070271 Lynch syndrome 1 ISO RGD:1315007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 8763308 Ccz1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated gene DOID:3883 Lynch syndrome ISO RGD:1315007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:10037723|PMID:16338176|PMID:20533529|PMID:21618646|PMID:24440087|PMID:26318770|PMID:28492532 8763308 Ccz1 CCZ1 homolog, vacuolar protein trafficking and biogenesis associated gene DOID:630 genetic disease ISO RGD:1315007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763331 Sirt3 sirtuin 3 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:1318107 D RGD:9068941 20220825 MouseDO 8763331 Sirt3 sirtuin 3 gene DOID:0070310 drug-induced hearing loss ISO RGD:1318106 D RGD:9068941 20230803 CTD CTD Direct Evidence: therapeutic PMID:36800006 8763331 Sirt3 sirtuin 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:1308374 D RGD:9068941 20200609 RGD associated with Obesity PMID:22327056|REF_RGD_ID:9586049 8763331 Sirt3 sirtuin 3 gene DOID:0111969 immunodeficiency 39 ISO RGD:1318106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8763331 Sirt3 sirtuin 3 gene DOID:10652 Alzheimer's disease ISO RGD:1318106 D RGD:9068941 20200609 RGD mRNA:increased expression:temporal cortex PMID:23139766|REF_RGD_ID:9586045 8763331 Sirt3 sirtuin 3 gene DOID:10652 Alzheimer's disease ISO RGD:1318107 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:23139766|REF_RGD_ID:9586045 8763331 Sirt3 sirtuin 3 gene DOID:11714 gestational diabetes ISO RGD:1318106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23956348 8763331 Sirt3 sirtuin 3 gene DOID:11716 prediabetes syndrome ISO RGD:1308374 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:24361842|REF_RGD_ID:9586046 8763331 Sirt3 sirtuin 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1318106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472714 8763331 Sirt3 sirtuin 3 gene DOID:5844 myocardial infarction treatment ISO RGD:1308374 D RGD:9068941 20200609 RGD PMID:24471974|REF_RGD_ID:9586050 8763331 Sirt3 sirtuin 3 gene DOID:6000 congestive heart failure ISO RGD:1308374 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:22155497|REF_RGD_ID:9586040 8763331 Sirt3 sirtuin 3 gene DOID:630 genetic disease ISO RGD:1318106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763331 Sirt3 sirtuin 3 gene DOID:9000307 Presbycusis ISO RGD:1308374 D RGD:9068941 20200609 RGD protein:decreased expression:auditory cortex: PMID:24505357|REF_RGD_ID:8158103 8763331 Sirt3 sirtuin 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1318106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472714 8763331 Sirt3 sirtuin 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318106 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:23397292|REF_RGD_ID:9586042 8763331 Sirt3 sirtuin 3 gene DOID:9970 obesity ISO RGD:1308374 D RGD:9068941 20200609 RGD PMID:21901160|REF_RGD_ID:9586047 8763331 Sirt3 sirtuin 3 gene DOID:9970 obesity ISO RGD:1318106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23956348 8763367 Gripap1 GRIP1 associated protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8763367 Gripap1 GRIP1 associated protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8763367 Gripap1 GRIP1 associated protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8763367 Gripap1 GRIP1 associated protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8763367 Gripap1 GRIP1 associated protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8763367 Gripap1 GRIP1 associated protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8763367 Gripap1 GRIP1 associated protein 1 gene DOID:12849 autistic disorder ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8763367 Gripap1 GRIP1 associated protein 1 gene DOID:1826 epilepsy ISO RGD:732724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8763367 Gripap1 GRIP1 associated protein 1 gene DOID:630 genetic disease ISO RGD:732724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8763367 Gripap1 GRIP1 associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8763414 Lin54 lin-54 DREAM MuvB core complex component gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1606970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8763414 Lin54 lin-54 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1606970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763435 Hmx1 H6 family homeobox 1 gene DOID:0060482 oculoauricular syndrome ISO RGD:1312652 D RGD:7240710 20180130 OMIM 8763435 Hmx1 H6 family homeobox 1 gene DOID:0060482 oculoauricular syndrome ISO RGD:1312652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculoauricular syndrome PMID:18423520|PMID:25574057|PMID:25741868|PMID:28492532 8763435 Hmx1 H6 family homeobox 1 gene DOID:10629 microphthalmia ISO RGD:1312652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19379485 8763435 Hmx1 H6 family homeobox 1 gene DOID:630 genetic disease ISO RGD:1312652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8763435 Hmx1 H6 family homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19379485 8763440 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316312 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8763440 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1316312 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8763440 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1316312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 PMID:28040730 8763440 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1316312 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763440 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:32738225|PMID:32788587 8763440 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:9006331 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities ISO RGD:1316312 D RGD:7240710 20210120 OMIM 8763440 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:9006331 Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities ISO RGD:1316312 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities PMID:25741868|PMID:28492532|PMID:32738225|PMID:32788587|PMID:33001864 8763440 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:9008582 Developmental Disease ISO RGD:1316312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532|PMID:32738225 8763440 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:9008961 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities ISO RGD:1316312 D RGD:7240710 20201202 OMIM 8763440 Nars1 asparaginyl-tRNA synthetase 1 gene DOID:9008961 Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities ISO RGD:1316312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities PMID:25741868|PMID:28492532|PMID:32738225 8763459 Ptpmt1 protein tyrosine phosphatase mitochondrial 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1605594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8763459 Ptpmt1 protein tyrosine phosphatase mitochondrial 1 gene DOID:1059 intellectual disability ISO RGD:1605594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8763459 Ptpmt1 protein tyrosine phosphatase mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1605594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0050952 spastic ataxia ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1346106 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:23911318|PMID:28492532 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1346106 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:23911318|PMID:28492532 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0060278 pontocerebellar hypoplasia type 9 ISO RGD:1346106 D RGD:7240710 20180130 OMIM 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0060278 pontocerebellar hypoplasia type 9 ISO RGD:1346106 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 9 PMID:23911318|PMID:25741868|PMID:27066553|PMID:28492532|PMID:28815207|PMID:28832565|PMID:29463858|PMID:31130284|PMID:31833174|PMID:32214227 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1346106 D RGD:7240710 20180130 OMIM 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 | ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive PMID:16199547|PMID:17576681|PMID:23911318|PMID:24482476|PMID:25558065|PMID:25741868|PMID:27159321|PMID:28492532|PMID:28832565|PMID:29463858|PMID:31130284|PMID:31833174|PMID:32552793|PMID:9536098 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:1059 intellectual disability ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:10907 microcephaly ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:12849 autistic disorder ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1346106 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532|PMID:28832565 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:630 genetic disease ISO RGD:1346106 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1346106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8763464 Ampd2 adenosine monophosphate deaminase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1346106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:28492532|PMID:32552793 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:0050328 congenital hypothyroidism ISO RGD:2645 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:23693027|REF_RGD_ID:10449124 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:736474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:0050476 Barth syndrome ISO RGD:736474 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria PMID:10480214|PMID:11748843|PMID:11968085|PMID:1303182|PMID:15315792|PMID:15996881|PMID:16427346|PMID:16528451|PMID:16601897|PMID:16684786|PMID:18046504|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22293322|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:25741868|PMID:26471271|PMID:27535533|PMID:27880809|PMID:28492532|PMID:28583873|PMID:29300386|PMID:29334594|PMID:30097005|PMID:31609781|PMID:33069889|PMID:5673160|PMID:6714978|PMID:9384614 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:20211032|REF_RGD_ID:10449177 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:0080941 acquired angioedema ISO RGD:736474 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors PMID:10782016|PMID:11445808|PMID:12064920|PMID:12497642|PMID:12768444|PMID:14278484|PMID:15315792|PMID:15502081|PMID:1551674|PMID:15727905|PMID:16119988|PMID:16143877|PMID:18046504|PMID:18226470|PMID:18568599|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:21507207|PMID:22018328|PMID:22293322|PMID:22452742|PMID:2253938|PMID:22552160|PMID:22770933|PMID:22906047|PMID:22906837|PMID:23006493|PMID:2321910|PMID:23479361|PMID:2393028|PMID:24134566|PMID:24460025|PMID:24586352|PMID:2503817|PMID:25326637|PMID:25541721|PMID:25741868|PMID:27519946|PMID:27853304|PMID:28492532|PMID:2912069|PMID:29300386|PMID:31863082|PMID:32425388|PMID:32860008|PMID:33072997|PMID:33636823|PMID:3393536|PMID:34966093|PMID:35753512|PMID:35840819|PMID:36703223|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5641629|PMID:5673160|PMID:6698555|PMID:7203486|PMID:7390473|PMID:7577654|PMID:7590755|PMID:7959686|PMID:8370579|PMID:8447319|PMID:8611726|PMID:8860013|PMID:9017974|PMID:9233561|PMID:9250351|PMID:9342374 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:736474 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 PMID:25741868 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:736474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:0111936 immunodeficiency 14 ISO RGD:736474 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT PMID:10734064|PMID:11852882|PMID:1303173|PMID:16356170|PMID:17018380|PMID:18677765|PMID:1924316|PMID:21153663|PMID:21479984|PMID:21931771|PMID:23006493|PMID:23057857|PMID:23144702|PMID:24033266|PMID:24505519|PMID:25201310|PMID:2572288|PMID:25741868|PMID:27040960|PMID:2836867|PMID:28492532|PMID:28756180|PMID:29300386|PMID:30045279|PMID:32387609|PMID:33636823|PMID:3393536|PMID:34620237|PMID:4359638|PMID:5448|PMID:5641629|PMID:6015571|PMID:7959686|PMID:8860013 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:0112003 immunodeficiency 33 ISO RGD:736474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:10588 adrenoleukodystrophy ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:7240710 20230505 OMIM 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10734064|PMID:10782016|PMID:11445808|PMID:11499668|PMID:11793482|PMID:12028056|PMID:12064920|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:14278484|PMID:14505231|PMID:15223006|PMID:15315792|PMID:15349799|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15766741|PMID:15906717|PMID:16119988|PMID:16136268|PMID:16155737|PMID:1631957|PMID:16356170|PMID:16528451|PMID:16777444|PMID:16927025|PMID:17726510|PMID:17959407|PMID:18046504|PMID:1805484|PMID:18329300|PMID:1924316|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:20007901|PMID:20236109|PMID:20602793|PMID:21446359|PMID:21479984|PMID:21677401|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22165289|PMID:22293322|PMID:22307442|PMID:22906047|PMID:23144702|PMID:2321910|PMID:23479361|PMID:23926329|PMID:23965028|PMID:24033266|PMID:24460025|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25201310|PMID:25326637|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26990548|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29339739|PMID:30161219|PMID:30315739|PMID:31525211|PMID:32860008|PMID:33051526|PMID:3338798|PMID:33413378|PMID:3393536|PMID:3446582|PMID:4359638|PMID:4388132|PMID:4435794|PMID:4837298|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5448|PMID:5770172|PMID:6015571|PMID:6698555|PMID:7203486|PMID:7327562|PMID:7390473|PMID:7803800|PMID:7806085|PMID:7947239|PMID:7947250|PMID:7949118|PMID:8118045|PMID:8611726|PMID:8807321|PMID:8860013|PMID:8956035|PMID:9192788|PMID:9342374|PMID:9589612|PMID:9858856 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10192449|PMID:10221015|PMID:10502785|PMID:10571945|PMID:10643148|PMID:10734064|PMID:10782016|PMID:10916676|PMID:11024211|PMID:11042039|PMID:11146567|PMID:11243133|PMID:11295127|PMID:11400791|PMID:11445808|PMID:11499668|PMID:11601226|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064920|PMID:12105841|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:1303182|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15349799|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15906717|PMID:15996881|PMID:16088936|PMID:1611091|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16461316|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16832|PMID:16927025|PMID:17018380|PMID:17524386|PMID:17587269|PMID:17726510|PMID:17959407|PMID:18043863|PMID:18046504|PMID:1805484|PMID:18177777|PMID:18226470|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:1879833|PMID:1924316|PMID:19422023|PMID:1945893|PMID:1953767|PMID:19589177|PMID:19594365|PMID:19632868|PMID:1972698|PMID:1978554|PMID:1978555|PMID:20007901|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20602793|PMID:20621077|PMID:21153663|PMID:21302115|PMID:21441392|PMID:21446359|PMID:21479984|PMID:21507207|PMID:21637675|PMID:21677401|PMID:21874587|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22139979|PMID:22164279|PMID:22165289|PMID:22171972|PMID:22237549|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2255919|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:22963798|PMID:23006493|PMID:23057857|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23365477|PMID:23479361|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24117340|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25071003|PMID:25141282|PMID:25201310|PMID:25326637|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:2602358|PMID:2606066|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26823837|PMID:26829728|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28028996|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28583873|PMID:28756180|PMID:28852037|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29248304|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30097005|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31609781|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32180910|PMID:32387609|PMID:32425388|PMID:32702756|PMID:32860008|PMID:33051526|PMID:33069889|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:3446582|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:35313968|PMID:35753512|PMID:35840819|PMID:3591235|PMID:36150187|PMID:36353116|PMID:36703223|PMID:36949502|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:4837298|PMID:4974311|PMID:5081671|PMID:511159|PMID:5305539|PMID:5369703|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5775246|PMID:5844610|PMID:6015571|PMID:6698555|PMID:6714978|PMID:6714986|PMID:6805883|PMID:7203486|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7858267|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:8118045|PMID:8193373|PMID:8244337|PMID:8364584|PMID:8370579|PMID:8447319|PMID:8471773|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807321|PMID:8807322|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9299858|PMID:9332310|PMID:9342374|PMID:9444913 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:12365 malaria ISO RGD:736474 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:9589612|PMID:9674740|PMID:9858856 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:12365 malaria severity ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:point mutation:cds:c.968T>C (human) PMID:24615128|REF_RGD_ID:10449115 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:12365 malaria susceptibility ISO RGD:736474 D RGD:9068941 20230506 RGD DNA:SNPs: :multiple PMID:25015414|REF_RGD_ID:10449111 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:12849 autistic disorder ISO RGD:736474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:13413 hepatic encephalopathy ISO RGD:2645 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum PMID:20405262|REF_RGD_ID:10449131 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:13580 cholestasis ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:18802767|REF_RGD_ID:2307352 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:7240710 20180130 OMIM 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD AURES | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES PMID:1008056|PMID:10192449|PMID:10221015|PMID:10502785|PMID:10556177|PMID:10571945|PMID:10627140|PMID:10643148|PMID:10666231|PMID:10734064|PMID:10772881|PMID:10782016|PMID:10916676|PMID:11024211|PMID:11042039|PMID:11112389|PMID:11146567|PMID:11243133|PMID:11261779|PMID:11271380|PMID:11295127|PMID:11400791|PMID:11445808|PMID:11484161|PMID:11499668|PMID:11594515|PMID:11601226|PMID:11780463|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064901|PMID:12064902|PMID:12064920|PMID:12105841|PMID:12130518|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:1270075|PMID:12737938|PMID:12737940|PMID:12768444|PMID:12850494|PMID:1303173|PMID:1303182|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:14757424|PMID:14757426|PMID:15065213|PMID:15223006|PMID:15315792|PMID:15349799|PMID:1536798|PMID:15466166|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15858258|PMID:15906717|PMID:15914531|PMID:15996881|PMID:16079115|PMID:16088936|PMID:1611091|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:16193512|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16461316|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16753852|PMID:16777444|PMID:16832|PMID:16927025|PMID:16934959|PMID:16944148|PMID:17018380|PMID:17233850|PMID:17524386|PMID:17576681|PMID:17587269|PMID:17611006|PMID:17726510|PMID:17877203|PMID:17959407|PMID:18043863|PMID:18046504|PMID:1805484|PMID:18056001|PMID:18066402|PMID:18086567|PMID:18177777|PMID:18226470|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:1879833|PMID:18985093|PMID:19224086|PMID:1924316|PMID:19422023|PMID:1945893|PMID:19465117|PMID:1953767|PMID:19589177|PMID:19594365|PMID:19632868|PMID:1972698|PMID:1978554|PMID:1978555|PMID:1999339|PMID:1999409|PMID:20007901|PMID:20052779|PMID:20085579|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20602793|PMID:20621077|PMID:20713184|PMID:20949590|PMID:21063220|PMID:21153663|PMID:21302115|PMID:21397531|PMID:21441392|PMID:21446359|PMID:21479984|PMID:21507207|PMID:2157298|PMID:21637675|PMID:21677401|PMID:21874587|PMID:2190319|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22139979|PMID:22164279|PMID:22165289|PMID:22171972|PMID:2222408|PMID:22237549|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2255919|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:22963798|PMID:23006493|PMID:23057857|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23365477|PMID:23389243|PMID:23479361|PMID:23757202|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24022758|PMID:24033266|PMID:24117340|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:24711023|PMID:24787449|PMID:2503817|PMID:25071003|PMID:25141282|PMID:25189226|PMID:25201310|PMID:25326637|PMID:25407525|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:25925739|PMID:2602358|PMID:2606066|PMID:26060661|PMID:26226515|PMID:26275698|PMID:2633878|PMID:26479991|PMID:26633385|PMID:26693676|PMID:26823837|PMID:26827633|PMID:26829728|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27408423|PMID:27495838|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27914961|PMID:27941691|PMID:27980749|PMID:28028996|PMID:28059001|PMID:28195434|PMID:28356147|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28583873|PMID:28756180|PMID:28852037|PMID:2895981|PMID:29072585|PMID:2912069|PMID:2912886|PMID:29138396|PMID:29141760|PMID:29248304|PMID:29300386|PMID:29333274|PMID:29339739|PMID:29396846|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30097005|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:30988594|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31590661|PMID:31609781|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32156605|PMID:32180910|PMID:32387441|PMID:32387609|PMID:32425388|PMID:32641076|PMID:32680472|PMID:32702756|PMID:32860008|PMID:32987391|PMID:33051526|PMID:33069889 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:13628 favism ISO RGD:736474 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency | ClinVar Annotator: match by term: FAVISM, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Favism, susceptibility to | ClinVar Annotator: match by term: G6PD A- | ClinVar Annotator: match by term: G6PD AURES | ClinVar Annotator: match by term: G6PD MALAGA | ClinVar Annotator: match by term: G6PD MINNESOTA | ClinVar Annotator: match by term: G6PD SANTIAGO | ClinVar Annotator: match by term: G6PD SANTIAGO DE CUBA | ClinVar Annotator: match by term: G6PD SERRES PMID:33072997|PMID:33128437|PMID:3338798|PMID:33413378|PMID:33636823|PMID:33637102|PMID:33708821|PMID:3393536|PMID:34007417|PMID:34272389|PMID:3446582|PMID:34620237|PMID:34643346|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:34989400|PMID:35313968|PMID:3565372|PMID:35695473|PMID:35753512|PMID:35840819|PMID:3591235|PMID:36150187|PMID:36212124|PMID:36212142|PMID:36315991|PMID:36353116|PMID:36703223|PMID:36949502|PMID:3740052|PMID:38066190|PMID:4154774|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:4837298|PMID:4838696|PMID:4974311|PMID:5081671|PMID:511159|PMID:5305539|PMID:5316621|PMID:5369703|PMID:5413384|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5775246|PMID:5779160|PMID:5844610|PMID:6015571|PMID:6344088|PMID:6500558|PMID:6698555|PMID:6714978|PMID:6714986|PMID:6805883|PMID:7055648|PMID:7129446|PMID:7160841|PMID:7203486|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7655862|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590|PMID:7849299|PMID:7858267|PMID:7870632|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:7959695|PMID:8118045|PMID:8141125|PMID:8193373|PMID:8241497|PMID:8244337|PMID:835572|PMID:8364584|PMID:8370579|PMID:8436389|PMID:8447319|PMID:8471773|PMID:8477268|PMID:848857|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807085|PMID:8807321|PMID:8807322|PMID:8813094|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9290617|PMID:9298828|PMID:9299858|PMID:9332310|PMID:9342374|PMID:9410474|PMID:9444913|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:202G>A (p.V68M) (human) PMID:24943486|REF_RGD_ID:10449113 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:1591 renovascular hypertension treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:22684021|REF_RGD_ID:10449172 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:224 transient cerebral ischemia ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:22580330|REF_RGD_ID:10449127 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:2355 anemia ISO RGD:736474 D RGD:9068941 20200609 RGD PMID:25940869|REF_RGD_ID:10449105 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:2355 anemia ISO RGD:736474 D RGD:9068941 20200609 RGD associated with Malaria, Falciparum;DNA:SNPs: :rs1050828, rs1050829 (human) PMID:24934404|REF_RGD_ID:10449114 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:2355 anemia treatment ISO RGD:736474 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:25261071|REF_RGD_ID:10449108 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:2383 neonatal jaundice ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:point mutation: :563C>T (human) PMID:24460025|REF_RGD_ID:10449116 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:2729 dyskeratosis congenita ISO RGD:736474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:2773 contact dermatitis ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10666231|PMID:4125296 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:point mutations: :1376G>T, 1502T>G (human) PMID:24923766|REF_RGD_ID:10449107 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736474 D RGD:9068941 20200609 RGD DNA:point mutations:exon:637G>T, 1178G>A, 1089C>A (human) PMID:1999409|REF_RGD_ID:1599812 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:736474 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: G6PD WALTER REED | ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency PMID:10192449|PMID:10221015|PMID:10502785|PMID:10571945|PMID:10643148|PMID:10666231|PMID:10734064|PMID:10782016|PMID:10916676|PMID:11024211|PMID:11042039|PMID:11112389|PMID:11146567|PMID:11243133|PMID:11400791|PMID:11445808|PMID:11499668|PMID:11601226|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064920|PMID:12105841|PMID:12187030|PMID:12215013|PMID:12367584|PMID:12497642|PMID:12737938|PMID:12768444|PMID:1303173|PMID:1303182|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15349799|PMID:1536798|PMID:15466166|PMID:15502081|PMID:1551674|PMID:15625830|PMID:1562739|PMID:15727905|PMID:15766741|PMID:15906717|PMID:15914531|PMID:15996881|PMID:16088936|PMID:1611091|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:16193512|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16461316|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16832|PMID:16927025|PMID:16934959|PMID:17018380|PMID:17233850|PMID:17524386|PMID:17576681|PMID:17587269|PMID:17726510|PMID:17959407|PMID:18043863|PMID:18046504|PMID:1805484|PMID:18056001|PMID:18177777|PMID:18226470|PMID:18270558|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:18985093|PMID:19224086|PMID:1924316|PMID:1945893|PMID:19465117|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:1999339|PMID:1999409|PMID:20007901|PMID:20200584|PMID:20203002|PMID:20236109|PMID:20582980|PMID:20602793|PMID:20621077|PMID:20949590|PMID:21153663|PMID:21302115|PMID:21441392|PMID:21446359|PMID:21479984|PMID:21507207|PMID:2157298|PMID:21637675|PMID:21677401|PMID:21874587|PMID:2190319|PMID:21931771|PMID:21989994|PMID:22018328|PMID:22164279|PMID:22165289|PMID:22171972|PMID:2222408|PMID:22237549|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:2255919|PMID:2263506|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:22963798|PMID:23006493|PMID:23057857|PMID:2307454|PMID:23144702|PMID:2321910|PMID:23365477|PMID:23389243|PMID:23479361|PMID:23757202|PMID:23926329|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24117340|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25071003|PMID:25141282|PMID:25201310|PMID:25326637|PMID:25407525|PMID:25440321|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:2602358|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26823837|PMID:26829728|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27880809|PMID:27884173|PMID:27980749|PMID:28028996|PMID:28059001|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28583873|PMID:28756180|PMID:28852037|PMID:2895981|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29248304|PMID:29300386|PMID:29333274|PMID:29339739|PMID:30045279|PMID:30077011|PMID:30096395|PMID:30097005|PMID:30161219|PMID:30314477|PMID:30315739|PMID:30674319|PMID:31294066|PMID:31489982|PMID:31525211|PMID:31590661|PMID:31609781|PMID:31862010|PMID:31863082|PMID:3198117|PMID:3201886|PMID:32180910|PMID:32387609|PMID:32425388|PMID:32680472|PMID:32702756|PMID:32860008|PMID:32987391|PMID:33051526|PMID:33069889|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:3446582|PMID:34620237|PMID:34643346|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:35313968|PMID:35753512|PMID:35840819|PMID:36150187|PMID:36703223|PMID:36949502|PMID:3740052|PMID:4154774|PMID:4283789|PMID:4359638|PMID:4379606|PMID:4388132|PMID:4392654|PMID:4435794|PMID:4721339|PMID:472761|PMID:4837298|PMID:4974311|PMID:5081671|PMID:5305539|PMID:5369703|PMID:5413384|PMID:5448|PMID:5485383|PMID:5641629|PMID:5673160|PMID:5770172|PMID:5844610|PMID:6015571|PMID:6344088|PMID:6698555|PMID:6714978|PMID:6714986|PMID:6805883|PMID:7055648|PMID:7129446|PMID:7160841|PMID:7203486|PMID:7327562|PMID:736032|PMID:7390473|PMID:7440223|PMID:7577654|PMID:7590755|PMID:7655862|PMID:7789945|PMID:7803800|PMID:7806085|PMID:7825590 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:736474 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: G6PD WALTER REED | ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose 6 phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency | ClinVar Annotator: match by term: Hemolytic anemia due to G6PD deficiency PMID:7858267|PMID:7947239|PMID:7947250|PMID:7949118|PMID:7959686|PMID:8118045|PMID:8193373|PMID:8244337|PMID:8364584|PMID:8370579|PMID:8447319|PMID:8471773|PMID:848857|PMID:8490627|PMID:853376|PMID:8533762|PMID:8537082|PMID:8611726|PMID:8807321|PMID:8807322|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9299858|PMID:9342374|PMID:9410474|PMID:9536098|PMID:9589612|PMID:9674740|PMID:9858856 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:3021 acute kidney failure ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4794122|PMID:602954|PMID:734759 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:3262 phagocyte bactericidal dysfunction ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4125296 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:3265 chronic granulomatous disease ISO RGD:736474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4125296 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:557 kidney disease treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:22549094|REF_RGD_ID:10449175 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:583 hemolytic anemia ISO RGD:736474 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:12064901|PMID:25741868|PMID:29300386 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:5844 myocardial infarction treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:20462747|REF_RGD_ID:10449173 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:589 congenital hemolytic anemia ISO RGD:736474 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868|PMID:28492532|PMID:29300386|PMID:32641076|PMID:33128437|PMID:5316621 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:607 paraplegia ISO RGD:736474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:630 genetic disease ISO RGD:736474 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502785|PMID:10734064|PMID:10772881|PMID:10782016|PMID:11261779|PMID:11445808|PMID:11499668|PMID:11601226|PMID:11793482|PMID:11852882|PMID:12028056|PMID:12064920|PMID:12367584|PMID:12497642|PMID:1270075|PMID:12737938|PMID:12768444|PMID:1303173|PMID:14014720|PMID:14278484|PMID:14505231|PMID:1459579|PMID:15223006|PMID:15315792|PMID:15502081|PMID:1551674|PMID:15625830|PMID:15727905|PMID:15766741|PMID:15858258|PMID:15906717|PMID:16119988|PMID:16136268|PMID:16143877|PMID:16155737|PMID:1631957|PMID:16329560|PMID:16356170|PMID:16513531|PMID:16528451|PMID:16607506|PMID:16777444|PMID:16927025|PMID:17018380|PMID:17726510|PMID:18046504|PMID:1805484|PMID:18226470|PMID:18329300|PMID:18452027|PMID:18568599|PMID:18677765|PMID:1924316|PMID:1945893|PMID:1953767|PMID:19589177|PMID:19594365|PMID:1972698|PMID:1978554|PMID:1978555|PMID:1999409|PMID:20200584|PMID:20236109|PMID:20602793|PMID:21153663|PMID:21446359|PMID:21479984|PMID:21507207|PMID:21677401|PMID:21931771|PMID:22018328|PMID:22164279|PMID:22293322|PMID:22307442|PMID:22452742|PMID:2253938|PMID:22552160|PMID:22770933|PMID:22906047|PMID:22906837|PMID:22963789|PMID:23006493|PMID:23057857|PMID:23144702|PMID:2321910|PMID:23479361|PMID:2393028|PMID:23965028|PMID:24033266|PMID:24134566|PMID:24460025|PMID:24505519|PMID:24551785|PMID:24586352|PMID:2503817|PMID:25071003|PMID:25201310|PMID:25326637|PMID:25536053|PMID:25541721|PMID:25548459|PMID:2572288|PMID:25741868|PMID:25775246|PMID:26060661|PMID:26226515|PMID:2633878|PMID:26633385|PMID:26990548|PMID:27040960|PMID:27053284|PMID:27213370|PMID:27287612|PMID:27408423|PMID:27519946|PMID:27535533|PMID:27853304|PMID:27884173|PMID:27980749|PMID:28195434|PMID:2836867|PMID:28492532|PMID:2849540|PMID:28756180|PMID:28852037|PMID:29072585|PMID:2912069|PMID:29141760|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30161219|PMID:30314477|PMID:30315739|PMID:31489982|PMID:31525211|PMID:31862010|PMID:31863082|PMID:3198117|PMID:32180910|PMID:32387609|PMID:32425388|PMID:32860008|PMID:33051526|PMID:33072997|PMID:3338798|PMID:33413378|PMID:33636823|PMID:3393536|PMID:3446582|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34934109|PMID:34966093|PMID:35313968|PMID:35753512|PMID:35840819|PMID:36150187|PMID:36703223|PMID:36949502|PMID:4359638|PMID:4388132|PMID:4721339|PMID:4837298|PMID:4974311|PMID:5305539|PMID:5369703|PMID:5448|PMID:5641629|PMID:5673160|PMID:6015571|PMID:6698555|PMID:6805883|PMID:7203486|PMID:7327562|PMID:7390473|PMID:7577654|PMID:7590755|PMID:7803800|PMID:7949118|PMID:7959686|PMID:8193373|PMID:8244337|PMID:8370579|PMID:8447319|PMID:8471773|PMID:8611726|PMID:8860013|PMID:8956035|PMID:9017974|PMID:9192788|PMID:9233561|PMID:9250351|PMID:9342374|PMID:9589612|PMID:9858856 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:6713 cerebrovascular disease ISO RGD:736474 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell PMID:26072930|REF_RGD_ID:10449106 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:25473368|REF_RGD_ID:10449118 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736474 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:83 cataract treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:24886740|REF_RGD_ID:10449123 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:21966115|REF_RGD_ID:10449170 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9000972 Fever ISO RGD:736474 D RGD:9068941 20200609 RGD associated with Malaria, Falciparum;DNA:SNP: :rs1050829 (human) PMID:24934404|REF_RGD_ID:10449114 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9000998 Brain Injuries ISO RGD:2645 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:18501200|REF_RGD_ID:2307353 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2645 D RGD:9068941 20200609 RGD associated with Hypertension PMID:21987533|REF_RGD_ID:10449128 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:736474 D RGD:9068941 20200609 RGD protein:decreased activity:blood PMID:25092943|REF_RGD_ID:10449110 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9002720 Splenomegaly ISO RGD:736474 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9003603 Hemolysis ISO RGD:736474 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: G6PD GIFU PMID:10502785|PMID:10643148|PMID:11024211|PMID:11499668|PMID:11793482|PMID:12497642|PMID:1562739|PMID:15727905|PMID:16329560|PMID:16607506|PMID:16832|PMID:17587269|PMID:17726510|PMID:20203002|PMID:21446359|PMID:21874587|PMID:22164279|PMID:22171972|PMID:2263506|PMID:22963789|PMID:25440321|PMID:25541721|PMID:25741868|PMID:25775246|PMID:26823837|PMID:28492532|PMID:29300386|PMID:30045279|PMID:31489982|PMID:31862010|PMID:31863082|PMID:33636823|PMID:35840819|PMID:4283789|PMID:4379606|PMID:4435794|PMID:4721339|PMID:5485383|PMID:6714986|PMID:7440223|PMID:7590755|PMID:7803800|PMID:8244337|PMID:8471773|PMID:8537082|PMID:9589612 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9004009 Reperfusion Injury ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:17250641|REF_RGD_ID:2307361 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9005181 Multi-Infarct Dementia treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:21279683|REF_RGD_ID:10449132 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2645 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:19374864|REF_RGD_ID:2307337 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2645 D RGD:9068941 20200609 RGD protein:increased expression:lens PMID:16718375|REF_RGD_ID:2307345 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:25116122|REF_RGD_ID:10449121 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:25063801|REF_RGD_ID:10449119 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9006411 Testicular Injury treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:25446862|REF_RGD_ID:10401887 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:22947172|REF_RGD_ID:10449176 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9006646 Metabolic Syndrome ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:19374165|REF_RGD_ID:2307350 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:24868532|REF_RGD_ID:10449117 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9006693 ALAD-Deficiency Porphyria ISO RGD:2645 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:23390166|REF_RGD_ID:10449130 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:21864513|REF_RGD_ID:10449168 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9007692 Insulin Resistance ISO RGD:2645 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:pancreas PMID:23015612|REF_RGD_ID:10449129 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9008691 Liver Injury treatment ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:20950607|REF_RGD_ID:10449174 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9279 hyperhomocysteinemia ISO RGD:2645 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:21717134|REF_RGD_ID:10449171 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9281 phenylketonuria ISO RGD:2645 D RGD:9068941 20200609 RGD PMID:24488205|REF_RGD_ID:10449120 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9351 diabetes mellitus ISO RGD:736474 D RGD:9068941 20200609 RGD protein:decreased activity:blood PMID:24865682|REF_RGD_ID:10449112 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:736474 D RGD:9068941 20200609 RGD protein:decreased expression:reticulocyte, erythrocyte PMID:12853069|REF_RGD_ID:2307349 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9744 type 1 diabetes mellitus ISO RGD:736474 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:15914531|REF_RGD_ID:2307348 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9970 obesity ISO RGD:10608 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:white fat PMID:15923630|REF_RGD_ID:2307347 8763485 G6pd glucose-6-phosphate dehydrogenase gene DOID:9970 obesity ISO RGD:2645 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:liver PMID:19230846|REF_RGD_ID:2307340 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1347433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1347433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:19380626|PMID:25741868 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1347433 D RGD:9068941 20200609 RGD DNA:missense mutations, SNPs:exon, intron:multiple PMID:21511817|REF_RGD_ID:7247446 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1347433 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 7 PMID:25741868|PMID:28492532 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1347433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:0111129 focal segmental glomerulosclerosis 2 ISO RGD:1347433 D RGD:7240710 20180130 OMIM 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:0111129 focal segmental glomerulosclerosis 2 ISO RGD:1347433 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related condition PMID:10200986|PMID:15879175|PMID:15924139|PMID:16932363|PMID:19129465|PMID:19380626|PMID:19458060|PMID:19936226|PMID:21734084|PMID:22732337|PMID:22980509|PMID:2298509|PMID:23171048|PMID:23291369|PMID:23645677|PMID:25019165|PMID:25741868|PMID:26127002|PMID:26147534|PMID:26467025|PMID:26892346|PMID:27573339|PMID:28117080|PMID:28166811|PMID:28204945|PMID:28492532|PMID:28780565|PMID:28921387|PMID:29127259|PMID:29700422|PMID:30295827|PMID:30586318|PMID:30655312|PMID:31266804|PMID:31266820|PMID:31937884|PMID:33532864|PMID:33884742|PMID:35051376|PMID:35064937|PMID:35749414|PMID:35913909 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:1059 intellectual disability ISO RGD:1347433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:1184 nephrotic syndrome ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:15924139|PMID:19129465|PMID:21734084|PMID:23645677|PMID:25741868|PMID:26467025|PMID:26892346|PMID:28117080|PMID:28204945|PMID:28492532|PMID:28921387|PMID:29127259|PMID:30295827|PMID:30655312|PMID:31937884|PMID:33884742 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:12704 ataxia telangiectasia ISO RGD:1347433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:19936226|PMID:22980509|PMID:25019165|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32581362 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:1347433 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.P15S (human) PMID:22980509|REF_RGD_ID:7247444 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:21839714|PMID:23385000|REF_RGD_ID:7247440|REF_RGD_ID:7247445 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:150 disease of mental health ISO RGD:1347433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21059368 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:224 transient cerebral ischemia ISO RGD:732721 D RGD:9068941 20200609 RGD PMID:23043486|REF_RGD_ID:7247583 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:224 transient cerebral ischemia treatment ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:20811149|PMID:23435869|REF_RGD_ID:7247582|REF_RGD_ID:7247585 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:557 kidney disease ISO RGD:1347433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:557 kidney disease treatment ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:23535151|REF_RGD_ID:7247439 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:576 proteinuria ISO RGD:619788 D RGD:9068941 20230128 RGD mRNA:increased expression:glomerular podocytes (rat) PMID:31784544|REF_RGD_ID:155882534 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:576 proteinuria ISO RGD:736283 D RGD:9068941 20200609 RGD PMID:23385000|REF_RGD_ID:7247440 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:630 genetic disease ISO RGD:1347433 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15924139|PMID:19129465|PMID:23171048|PMID:25741868|PMID:26892346|PMID:28492532|PMID:29700422|PMID:30586318|PMID:31266804|PMID:31266820|PMID:35051376|PMID:35064937|PMID:35749414|PMID:35913909 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:6432 pulmonary hypertension ISO RGD:1347433 D RGD:9068941 20200609 RGD PMID:15358862|REF_RGD_ID:1580490 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:8544 chronic fatigue syndrome ISO RGD:1347433 D RGD:9068941 20201203 RGD DNA:SNPs: : PMID:27834303|REF_RGD_ID:40886272 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:9000040 Hypertrophy ISO RGD:1347433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20177073 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:9001542 Albuminuria ISO RGD:1557692 D RGD:9068941 20200609 RGD PMID:21839714|REF_RGD_ID:7247445 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:9001542 Albuminuria ISO RGD:619788 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:decreased expression:kidney cortex PMID:19887786|REF_RGD_ID:7247603 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:9002165 Diabetic Nephropathies induces ISO XCO:0000245,XCO:0000241 D RGD:9068941 20210730 RGD PMID:29923767|REF_RGD_ID:149735534 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:619788 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22673147|REF_RGD_ID:7247584 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:9002174 Disease Susceptibility ISO RGD:1347433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20130021 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:9002211 Hyperalgesia ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:19439599|REF_RGD_ID:7247605 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:619788 D RGD:9068941 20230128 RGD mRNA:increased expression:glomerular podocytes (rat) PMID:31784544|REF_RGD_ID:155882534 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:9003936 Cardiomegaly ISO RGD:732721 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:23212367|REF_RGD_ID:7247443 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:619788 D RGD:9068941 20200609 RGD PMID:20554625|REF_RGD_ID:4891135 8763512 Trpc6 transient receptor potential cation channel subfamily C member 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:619788 D RGD:9068941 20200609 RGD protein:increased expression:artery smooth muscle PMID:20337661|REF_RGD_ID:7247596 8763529 Slamf8 SLAM family member 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:1314782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 8763529 Slamf8 SLAM family member 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8763529 Slamf8 SLAM family member 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1314782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8763529 Slamf8 SLAM family member 8 gene DOID:630 genetic disease ISO RGD:1314782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763529 Slamf8 SLAM family member 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8763538 Ulk4 unc-51 like kinase 4 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8763538 Ulk4 unc-51 like kinase 4 gene DOID:1059 intellectual disability ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate 8763538 Ulk4 unc-51 like kinase 4 gene DOID:10908 hydrocephalus ISO RGD:1608439 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8763538 Ulk4 unc-51 like kinase 4 gene DOID:5419 schizophrenia ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8763538 Ulk4 unc-51 like kinase 4 gene DOID:630 genetic disease ISO RGD:1346964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763538 Ulk4 unc-51 like kinase 4 gene DOID:9538 multiple myeloma ISO RGD:1346964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22120009 8763538 Ulk4 unc-51 like kinase 4 gene DOID:9970 obesity ISO RGD:1346964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 8763580 Bud31 BUD31 homolog gene DOID:1395 schistosomiasis ISO RGD:621103 D RGD:9068941 20200609 RGD Protein:increased expression:serum (human) PMID:22686541|REF_RGD_ID:10058982 8763580 Bud31 BUD31 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8763580 Bud31 BUD31 homolog gene DOID:630 genetic disease ISO RGD:1604400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763603 Sgcd sarcoglycan delta gene DOID:0050700 cardiomyopathy ISO RGD:1315366 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:24503780|PMID:25741868|PMID:26084686|PMID:26467025|PMID:28492532|PMID:33919104|PMID:34790974 8763603 Sgcd sarcoglycan delta gene DOID:0050700 cardiomyopathy severity ISO RGD:1315367 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.Ser151Ala(mouse) PMID:23695275|REF_RGD_ID:13605617 8763603 Sgcd sarcoglycan delta gene DOID:0050700 cardiomyopathy severity ISO RGD:1315367 D RGD:9068941 20200609 RGD associated with limb-girdle muscular dystrophy PMID:10481911|REF_RGD_ID:13605616 8763603 Sgcd sarcoglycan delta gene DOID:0050700 cardiomyopathy treatment ISO RGD:1315367 D RGD:9068941 20200609 RGD associated with Sgcd knockout PMID:19218289|REF_RGD_ID:13605618 8763603 Sgcd sarcoglycan delta gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1315366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 8763603 Sgcd sarcoglycan delta gene DOID:0080600 COVID-19 ISO RGD:1315366 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8763603 Sgcd sarcoglycan delta gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1315366 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10974018|PMID:12794684|PMID:18414213|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532 8763603 Sgcd sarcoglycan delta gene DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F ISO RGD:1315366 D RGD:7240710 20180130 OMIM 8763603 Sgcd sarcoglycan delta gene DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F ISO RGD:1315366 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F | ClinVar Annotator: match by term: Delta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC PMID:10735275|PMID:10838250|PMID:10974018|PMID:12794684|PMID:14564412|PMID:16199547|PMID:16432241|PMID:16524571|PMID:17164264|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18414213|PMID:19259135|PMID:19770540|PMID:19771157|PMID:20623375|PMID:22095924|PMID:22337857|PMID:23695275|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26084686|PMID:26467025|PMID:26498160|PMID:26633542|PMID:26720722|PMID:26968544|PMID:27532257|PMID:28401079|PMID:28412737|PMID:28492532|PMID:28687063|PMID:28855170|PMID:31019283|PMID:31983221|PMID:32875335|PMID:33919104|PMID:34790974|PMID:8841194|PMID:9536098|PMID:9832045 8763603 Sgcd sarcoglycan delta gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1315366 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:23861362|PMID:24033266|PMID:25741868|PMID:26720722|PMID:28492532 8763603 Sgcd sarcoglycan delta gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1315366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25637381|PMID:25741868 8763603 Sgcd sarcoglycan delta gene DOID:0110436 dilated cardiomyopathy 1L ISO RGD:1315366 D RGD:7240710 20180130 OMIM 8763603 Sgcd sarcoglycan delta gene DOID:0110436 dilated cardiomyopathy 1L ISO RGD:1315366 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1L PMID:10735275|PMID:10838250|PMID:10974018|PMID:12794684|PMID:14564412|PMID:16199547|PMID:16432241|PMID:16524571|PMID:17164264|PMID:17576681|PMID:17994539|PMID:18285821|PMID:19259135|PMID:19770540|PMID:19771157|PMID:20623375|PMID:22095924|PMID:22337857|PMID:23695275|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26720722|PMID:26968544|PMID:27532257|PMID:28401079|PMID:28412737|PMID:28492532|PMID:28687063|PMID:28855170|PMID:30733730|PMID:31019283|PMID:31983221|PMID:33919104|PMID:34790974|PMID:8841194|PMID:9536098 8763603 Sgcd sarcoglycan delta gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1315366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 8763603 Sgcd sarcoglycan delta gene DOID:10908 hydrocephalus ISO RGD:1315366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 8763603 Sgcd sarcoglycan delta gene DOID:11724 limb-girdle muscular dystrophy severity ISO RGD:1315367 D RGD:9068941 20200609 RGD PMID:10481911|REF_RGD_ID:13605616 8763603 Sgcd sarcoglycan delta gene DOID:12930 dilated cardiomyopathy ISO RGD:1315366 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26720722|PMID:28492532 8763603 Sgcd sarcoglycan delta gene DOID:440 neuromuscular disease ISO RGD:1315366 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:10735275|PMID:10838250|PMID:16199547|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:8841194 8763603 Sgcd sarcoglycan delta gene DOID:630 genetic disease ISO RGD:1315366 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:28492532 8763603 Sgcd sarcoglycan delta gene DOID:9884 muscular dystrophy ISO RGD:1315366 D RGD:9068941 20200609 RGD Limb-girdle muscular dystrophies (LGMD), OMIM:601411 PMID:8841194|REF_RGD_ID:1599341 8763629 Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1348475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8763629 Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:13641 exfoliation syndrome ISO RGD:1348475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 8763629 Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763655 Aebp2 AE binding protein 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1316304 D RGD:9068941 20220825 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 8763655 Aebp2 AE binding protein 2 gene DOID:630 genetic disease ISO RGD:1316303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763655 Aebp2 AE binding protein 2 gene DOID:9258 Waardenburg syndrome ISO RGD:1316304 D RGD:9068941 20220825 MouseDO 8763667 Sp6 Sp6 transcription factor gene DOID:2187 amelogenesis imperfecta ISO RGD:1306768 D RGD:9068941 20210423 RGD PMID:22676574|REF_RGD_ID:10047189 8763667 Sp6 Sp6 transcription factor gene DOID:630 genetic disease ISO RGD:1315575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763667 Sp6 Sp6 transcription factor gene DOID:9002275 Amelogenesis Imperfecta Type 1K ISO RGD:1315575 D RGD:7240710 20221102 OMIM 8763680 Tecta tectorin alpha gene DOID:0050563 nonsyndromic deafness ISO RGD:1320369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11087000|PMID:12746400|PMID:16718611|PMID:17431902|PMID:21520338|PMID:24033266|PMID:24130743|PMID:25741868|PMID:26467025|PMID:26969326|PMID:28492532|PMID:28946916|PMID:30311386|PMID:30935366|PMID:31163360|PMID:31554319|PMID:33297549|PMID:34795337 8763680 Tecta tectorin alpha gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 8763680 Tecta tectorin alpha gene DOID:0060017 CD3epsilon deficiency ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8763680 Tecta tectorin alpha gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8763680 Tecta tectorin alpha gene DOID:0080690 RASopathy ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8763680 Tecta tectorin alpha gene DOID:0110479 autosomal recessive nonsyndromic deafness 21 ISO RGD:1320369 D RGD:7240710 20180130 OMIM 8763680 Tecta tectorin alpha gene DOID:0110479 autosomal recessive nonsyndromic deafness 21 ISO RGD:1320369 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition PMID:11087000|PMID:12746400|PMID:17431902|PMID:17576681|PMID:17661817|PMID:18381613|PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:22980975|PMID:23967202|PMID:24033266|PMID:24130743|PMID:24586623|PMID:25262649|PMID:25741868|PMID:26467025|PMID:27068579|PMID:27627659|PMID:28000701|PMID:28492532|PMID:29196752|PMID:30303587|PMID:30311386|PMID:31163360|PMID:31554319|PMID:32747562|PMID:32853555|PMID:33111345|PMID:34008892|PMID:35802133|PMID:36633841|PMID:9536098|PMID:9949200 8763680 Tecta tectorin alpha gene DOID:0110544 autosomal dominant nonsyndromic deafness 12 ISO RGD:1320369 D RGD:7240710 20180130 OMIM 8763680 Tecta tectorin alpha gene DOID:0110544 autosomal dominant nonsyndromic deafness 12 ISO RGD:1320369 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 PMID:10196713|PMID:10987647|PMID:11087000|PMID:11333869|PMID:12021773|PMID:12162770|PMID:12746400|PMID:16718611|PMID:17431902|PMID:17576681|PMID:17661817|PMID:18381613|PMID:18575463|PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:22980975|PMID:23967202|PMID:24033266|PMID:24130743|PMID:24586623|PMID:25262649|PMID:25741868|PMID:26467025|PMID:27068579|PMID:27627659|PMID:28000701|PMID:28492532|PMID:28946916|PMID:29196752|PMID:29293505|PMID:30311386|PMID:30935366|PMID:31163360|PMID:31554319|PMID:32747562|PMID:32853555|PMID:33297549|PMID:34008892|PMID:34795337|PMID:9536098|PMID:9590290 8763680 Tecta tectorin alpha gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8763680 Tecta tectorin alpha gene DOID:0111971 immunodeficiency 18 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8763680 Tecta tectorin alpha gene DOID:0111972 immunodeficiency 19 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8763680 Tecta tectorin alpha gene DOID:0111973 immunodeficiency 17 ISO RGD:1320369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8763680 Tecta tectorin alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1320369 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:18381613|PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:24033266|PMID:24586623|PMID:25741868|PMID:27627659|PMID:28000701|PMID:28492532|PMID:31163360|PMID:31554319|PMID:32853555 8763680 Tecta tectorin alpha gene DOID:5419 schizophrenia ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8763680 Tecta tectorin alpha gene DOID:630 genetic disease ISO RGD:1320369 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18381613|PMID:20947814|PMID:21520338|PMID:21917145|PMID:22718023|PMID:24033266|PMID:24586623|PMID:25741868|PMID:27627659|PMID:28000701|PMID:28492532|PMID:31163360|PMID:31554319|PMID:32853555 8763680 Tecta tectorin alpha gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8763680 Tecta tectorin alpha gene DOID:9004538 Hearing Loss ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:21520338|PMID:24033266|PMID:24586623|PMID:25262649|PMID:25741868|PMID:26969326|PMID:27068579|PMID:28492532|PMID:30311386|PMID:34008892 8763680 Tecta tectorin alpha gene DOID:9007661 Dwarfism ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8763680 Tecta tectorin alpha gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:25741868 8763680 Tecta tectorin alpha gene DOID:9008681 Deafness ISO RGD:1320369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 8763680 Tecta tectorin alpha gene DOID:9849 Meniere's disease ISO RGD:1320369 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:24033266|PMID:25741868|PMID:28492532 8763719 Csrp2 cysteine and glycine rich protein 2 gene DOID:630 genetic disease ISO RGD:1352848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:10603 glucose intolerance ISO RGD:1557958 D RGD:9068941 20200609 RGD PMID:10611300|REF_RGD_ID:737713 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:1287 cardiovascular system disease ISO RGD:732777 D RGD:9068941 20200609 RGD DNA:missense mutation:p.E354Q (human) PMID:17624916|REF_RGD_ID:2312618 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:732777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:4195 hyperglycemia ISO RGD:1557958 D RGD:9068941 20200609 RGD PMID:10611300|REF_RGD_ID:737713 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:4195 hyperglycemia ISO RGD:2689 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet (rat) PMID:17505054|REF_RGD_ID:2312603 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:630 genetic disease ISO RGD:732777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:732777 D RGD:9068941 20200609 RGD PMID:19211686|REF_RGD_ID:2306734 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2689 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:12789546|REF_RGD_ID:2312548 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:9007633 Body Weight ISO RGD:732777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344221 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:9351 diabetes mellitus ISO RGD:732777 D RGD:9068941 20200609 RGD human gene, mouse model PMID:15582721|REF_RGD_ID:2312617 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:2689 D RGD:9068941 20200609 RGD PMID:11334402|REF_RGD_ID:68929 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:732777 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet (human) PMID:19386626|REF_RGD_ID:2312454 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:9970 obesity ISO RGD:1557958 D RGD:9068941 20200609 RGD mRNA:splice variant:pancreatic islet (mouse) PMID:17971513|REF_RGD_ID:2312612 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:9970 obesity ISO RGD:732777 D RGD:9068941 20200609 RGD DNA:polymorphism:intron 1 C>A (rs2302382) (human) PMID:19254363|REF_RGD_ID:2312615 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:9970 obesity ISO RGD:732777 D RGD:9068941 20200609 RGD mRNA:reduced expression:fat tissue (human) PMID:17395281|REF_RGD_ID:2312616 8763736 Gipr gastric inhibitory polypeptide receptor gene DOID:9970 obesity susceptibility ISO RGD:1557958 D RGD:9068941 20200609 RGD PMID:12068290|REF_RGD_ID:737714 8763784 Lrat lecithin retinol acyltransferase gene DOID:0050572 cone-rod dystrophy ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868 8763784 Lrat lecithin retinol acyltransferase gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:25324289|PMID:25472526|PMID:25741868|PMID:28492532|PMID:29186038|PMID:29844330|PMID:30190494|PMID:32865313 8763784 Lrat lecithin retinol acyltransferase gene DOID:0110188 Leber congenital amaurosis 14 ISO RGD:68515 D RGD:7240710 20180130 OMIM 8763784 Lrat lecithin retinol acyltransferase gene DOID:0110188 Leber congenital amaurosis 14 ISO RGD:68515 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar Annotator: match by term: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED PMID:11381255|PMID:17011878|PMID:18055821|PMID:22025579|PMID:22559933|PMID:22570351|PMID:24265693|PMID:25741868|PMID:26656277|PMID:28492532|PMID:29186038|PMID:32865313 8763784 Lrat lecithin retinol acyltransferase gene DOID:10584 retinitis pigmentosa ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22025579|PMID:25741868|PMID:26355662|PMID:28492532|PMID:30054919|PMID:30718709 8763784 Lrat lecithin retinol acyltransferase gene DOID:10608 celiac disease ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8763784 Lrat lecithin retinol acyltransferase gene DOID:14791 Leber congenital amaurosis ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:24033266|PMID:25741868|PMID:28492532 8763784 Lrat lecithin retinol acyltransferase gene DOID:3007 breast ductal carcinoma ISO RGD:68515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8763784 Lrat lecithin retinol acyltransferase gene DOID:630 genetic disease ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8763784 Lrat lecithin retinol acyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8763784 Lrat lecithin retinol acyltransferase gene DOID:705 Leber hereditary optic neuropathy ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16250670|PMID:17011878 8763784 Lrat lecithin retinol acyltransferase gene DOID:8501 fundus dystrophy ISO RGD:68515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 8763784 Lrat lecithin retinol acyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8763784 Lrat lecithin retinol acyltransferase gene DOID:9002525 Hereditary Eye Diseases ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968212 8763784 Lrat lecithin retinol acyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8763784 Lrat lecithin retinol acyltransferase gene DOID:9008296 Eye Abnormalities ISO RGD:68515 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 8763784 Lrat lecithin retinol acyltransferase gene DOID:9008550 Vitamin A Deficiency ISO RGD:68515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16174770 8763797 Lypd3 LY6/PLAUR domain containing 3 gene DOID:5419 schizophrenia ISO RGD:70834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8763797 Lypd3 LY6/PLAUR domain containing 3 gene DOID:630 genetic disease ISO RGD:70834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763806 Slc36a2 solute carrier family 36 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8763806 Slc36a2 solute carrier family 36 member 2 gene DOID:0112265 iminoglycinuria ISO RGD:1354285 D RGD:7240710 20180130 OMIM 8763806 Slc36a2 solute carrier family 36 member 2 gene DOID:0112265 iminoglycinuria ISO RGD:1354285 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Iminoglycinuria PMID:19033659|PMID:28492532 8763806 Slc36a2 solute carrier family 36 member 2 gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1354285 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:28492532 8763806 Slc36a2 solute carrier family 36 member 2 gene DOID:630 genetic disease ISO RGD:1354285 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8763806 Slc36a2 solute carrier family 36 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8763806 Slc36a2 solute carrier family 36 member 2 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1354285 D RGD:7240710 20180130 OMIM 8763806 Slc36a2 solute carrier family 36 member 2 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1354285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperglycinuria PMID:19033659|PMID:25741868|PMID:28492532 8763831 Stard4 StAR related lipid transfer domain containing 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8763831 Stard4 StAR related lipid transfer domain containing 4 gene DOID:630 genetic disease ISO RGD:1319833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763831 Stard4 StAR related lipid transfer domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8763831 Stard4 StAR related lipid transfer domain containing 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8763831 Stard4 StAR related lipid transfer domain containing 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8763885 Tnk1 tyrosine kinase non receptor 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1320828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8763885 Tnk1 tyrosine kinase non receptor 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1320828 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8763885 Tnk1 tyrosine kinase non receptor 1 gene DOID:1059 intellectual disability ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8763885 Tnk1 tyrosine kinase non receptor 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8763885 Tnk1 tyrosine kinase non receptor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8763885 Tnk1 tyrosine kinase non receptor 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1320828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8763885 Tnk1 tyrosine kinase non receptor 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8763885 Tnk1 tyrosine kinase non receptor 1 gene DOID:630 genetic disease ISO RGD:1320828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763885 Tnk1 tyrosine kinase non receptor 1 gene DOID:9255 frontotemporal dementia ISO RGD:1320828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868 8763906 Pon3 paraoxonase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1344009 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8763906 Pon3 paraoxonase 3 gene DOID:10608 celiac disease ISO RGD:1344009 D RGD:9068941 20200609 RGD mRNA:decreased expression:duodenum PMID:17664137|REF_RGD_ID:5509924 8763906 Pon3 paraoxonase 3 gene DOID:10652 Alzheimer's disease ISO RGD:1344009 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple SNPs PMID:16319130|REF_RGD_ID:5509926 8763906 Pon3 paraoxonase 3 gene DOID:1936 atherosclerosis ISO RGD:1344009 D RGD:9068941 20200609 RGD mRNA:altered expression::human transgene expression in ApoE-KO mice was protective PMID:20182519|REF_RGD_ID:5509927 8763906 Pon3 paraoxonase 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 8763906 Pon3 paraoxonase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8763906 Pon3 paraoxonase 3 gene DOID:630 genetic disease ISO RGD:1344009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763906 Pon3 paraoxonase 3 gene DOID:8577 ulcerative colitis ISO RGD:1344009 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:17664137|REF_RGD_ID:5509924 8763906 Pon3 paraoxonase 3 gene DOID:8778 Crohn's disease ISO RGD:1344009 D RGD:9068941 20200609 RGD mRNA:decreased expression:terminal ileum PMID:17664137|REF_RGD_ID:5509924 8763934 Srpk3 SRSF protein kinase 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8763934 Srpk3 SRSF protein kinase 3 gene DOID:0050476 Barth syndrome ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8763934 Srpk3 SRSF protein kinase 3 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 8763934 Srpk3 SRSF protein kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8763934 Srpk3 SRSF protein kinase 3 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:1349288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y 8763934 Srpk3 SRSF protein kinase 3 gene DOID:0080991 congenital myopathy 1B ISO RGD:1349288 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868 8763934 Srpk3 SRSF protein kinase 3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349288 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 8763934 Srpk3 SRSF protein kinase 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349288 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8763934 Srpk3 SRSF protein kinase 3 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1349288 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome PMID:25741868 8763934 Srpk3 SRSF protein kinase 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8763934 Srpk3 SRSF protein kinase 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8763934 Srpk3 SRSF protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:1349288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8763934 Srpk3 SRSF protein kinase 3 gene DOID:13628 favism ISO RGD:1349288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8763934 Srpk3 SRSF protein kinase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8763934 Srpk3 SRSF protein kinase 3 gene DOID:607 paraplegia ISO RGD:1349288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8763934 Srpk3 SRSF protein kinase 3 gene DOID:630 genetic disease ISO RGD:1349288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763934 Srpk3 SRSF protein kinase 3 gene DOID:9002720 Splenomegaly ISO RGD:1349288 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8763934 Srpk3 SRSF protein kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349288 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8763963 Ppp2r3a protein phosphatase 2 regulatory subunit B''alpha gene DOID:0060224 atrial fibrillation ISO RGD:1315869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8763963 Ppp2r3a protein phosphatase 2 regulatory subunit B''alpha gene DOID:630 genetic disease ISO RGD:1315869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763963 Ppp2r3a protein phosphatase 2 regulatory subunit B''alpha gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1315869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8763983 Lrrn1 leucine rich repeat neuronal 1 gene DOID:10534 stomach cancer severity ISO RGD:1345511 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 8763983 Lrrn1 leucine rich repeat neuronal 1 gene DOID:630 genetic disease ISO RGD:1345511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8763983 Lrrn1 leucine rich repeat neuronal 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8763989 Utp6 UTP6 small subunit processome component gene DOID:1969 cerebral palsy ISO RGD:1603639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8763989 Utp6 UTP6 small subunit processome component gene DOID:630 genetic disease ISO RGD:1603639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764012 Aven apoptosis and caspase activation inhibitor gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1320536 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 8764012 Aven apoptosis and caspase activation inhibitor gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1320536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8764012 Aven apoptosis and caspase activation inhibitor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320536 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 8764012 Aven apoptosis and caspase activation inhibitor gene DOID:13938 amenorrhea ISO RGD:1320536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8764012 Aven apoptosis and caspase activation inhibitor gene DOID:1826 epilepsy ISO RGD:1320536 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8764012 Aven apoptosis and caspase activation inhibitor gene DOID:2717 Bloom syndrome ISO RGD:1320536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8764012 Aven apoptosis and caspase activation inhibitor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1320536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 8764012 Aven apoptosis and caspase activation inhibitor gene DOID:630 genetic disease ISO RGD:1320536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8764012 Aven apoptosis and caspase activation inhibitor gene DOID:9001793 Generalized Epilepsy ISO RGD:1320536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:9536098 8764012 Aven apoptosis and caspase activation inhibitor gene DOID:9256 colorectal cancer ISO RGD:1320536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:0060673 Peters anomaly ISO RGD:1352223 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:10234503|PMID:22361317|PMID:25741868|PMID:28492532|PMID:8364574 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:0070530 foveal hypoplasia 1 ISO RGD:1352223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome PMID:10234503|PMID:22361317|PMID:25741868|PMID:28492532|PMID:8364574 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:0070532 aniridia 1 ISO RGD:1352223 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10234503|PMID:10737978|PMID:11284764|PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:15150775|PMID:16098226|PMID:17630404|PMID:18483559|PMID:19218613|PMID:22361317|PMID:24138039|PMID:24290376|PMID:25741868|PMID:26661695|PMID:27124303|PMID:27381094|PMID:27431685|PMID:28231309|PMID:28321846|PMID:28492532|PMID:29618921|PMID:30291432|PMID:8364574 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:1352223 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:10234503|PMID:22361317|PMID:25741868|PMID:28492532|PMID:8364574 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:0111383 autosomal dominant keratitis ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: Dominantly inherited keratitis | ClinVar Annotator: match by term: Keratitis, hereditary PMID:28492532 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:28492532 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:10629 microphthalmia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:28492532 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:11975 coloboma of optic nerve ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve | ClinVar Annotator: match by term: Congenital coloboma of the optic nerve PMID:25741868 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:12271 aniridia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:28492532 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:14515 WAGR syndrome ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:28492532 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:3764 Denys-Drash syndrome ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:630 genetic disease ISO RGD:1352223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9002049 Anophthalmia ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9003133 Hypertelorism ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:16098226|PMID:25741868|PMID:27431685|PMID:28321846|PMID:28492532|PMID:29618921 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:28492532 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9003911 Aniridia 2 ISO RGD:1352223 D RGD:7240710 20190327 OMIM 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9003911 Aniridia 2 ISO RGD:1352223 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aniridia 2 PMID:25741868|PMID:26010655|PMID:28492532 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1352223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8764029 Elp4 elongator acetyltransferase complex subunit 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8764079 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:10652 Alzheimer's disease ISO RGD:1343121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27023435|PMID:29107063|PMID:30319691|PMID:30320580 8764079 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:3526 cerebral infarction ISO RGD:1343121 D RGD:9068941 20200609 RGD DNA:SNP: :rs2075650 (human) PMID:26171154|REF_RGD_ID:13464126 8764079 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:3910 lung adenocarcinoma ISO RGD:1343121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8764079 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:630 genetic disease ISO RGD:1343121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764079 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:9003370 Dyslipidemias ISO RGD:1343121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29670124 8764079 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1303022 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:23255365|REF_RGD_ID:13463486 8764079 Tomm40 translocase of outer mitochondrial membrane 40 gene DOID:9006205 Animal Disease Models ISO RGD:1343121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8764093 Prmt5 protein arginine methyltransferase 5 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319178 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:31123343 8764093 Prmt5 protein arginine methyltransferase 5 gene DOID:0050902 medulloblastoma ISO RGD:1319178 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:31694585 8764093 Prmt5 protein arginine methyltransferase 5 gene DOID:0060250 idiopathic scoliosis ISO RGD:1319179 D RGD:9068941 20220825 MouseDO 8764093 Prmt5 protein arginine methyltransferase 5 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8764093 Prmt5 protein arginine methyltransferase 5 gene DOID:2696 Leydig cell tumor ISO RGD:1319178 D RGD:9068941 20200609 RGD protein:altered localization PMID:17437848|REF_RGD_ID:2299953 8764093 Prmt5 protein arginine methyltransferase 5 gene DOID:2841 asthma ISO RGD:1309053 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, spleen PMID:20423833|REF_RGD_ID:9491823 8764093 Prmt5 protein arginine methyltransferase 5 gene DOID:4440 seminoma ISO RGD:1319178 D RGD:9068941 20200609 RGD protein:altered localization PMID:17437848|REF_RGD_ID:2299953 8764093 Prmt5 protein arginine methyltransferase 5 gene DOID:630 genetic disease ISO RGD:1319178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764093 Prmt5 protein arginine methyltransferase 5 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8764093 Prmt5 protein arginine methyltransferase 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319178 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8764093 Prmt5 protein arginine methyltransferase 5 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1319178 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30957988 8764093 Prmt5 protein arginine methyltransferase 5 gene DOID:9538 multiple myeloma ISO RGD:1319178 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:29158558 8764122 Ppp1r26 protein phosphatase 1 regulatory subunit 26 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8764122 Ppp1r26 protein phosphatase 1 regulatory subunit 26 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8764122 Ppp1r26 protein phosphatase 1 regulatory subunit 26 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1352865 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8764122 Ppp1r26 protein phosphatase 1 regulatory subunit 26 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8764122 Ppp1r26 protein phosphatase 1 regulatory subunit 26 gene DOID:0081097 Rafiq syndrome ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8764122 Ppp1r26 protein phosphatase 1 regulatory subunit 26 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8764122 Ppp1r26 protein phosphatase 1 regulatory subunit 26 gene DOID:3652 Leigh disease ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8764122 Ppp1r26 protein phosphatase 1 regulatory subunit 26 gene DOID:630 genetic disease ISO RGD:1352865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764122 Ppp1r26 protein phosphatase 1 regulatory subunit 26 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1352865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 8764131 Bfsp2 beaded filament structural protein 2 gene DOID:0110239 cataract 12 multiple types ISO RGD:1347093 D RGD:7240710 20180130 OMIM 8764131 Bfsp2 beaded filament structural protein 2 gene DOID:0110239 cataract 12 multiple types ISO RGD:1347093 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cataract 12 multiple types PMID:10729115|PMID:12573667|PMID:14638724|PMID:21836522|PMID:25741868|PMID:28492532 8764131 Bfsp2 beaded filament structural protein 2 gene DOID:12712 nephronophthisis ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 8764131 Bfsp2 beaded filament structural protein 2 gene DOID:630 genetic disease ISO RGD:1347093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8764131 Bfsp2 beaded filament structural protein 2 gene DOID:83 cataract ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25741868 8764131 Bfsp2 beaded filament structural protein 2 gene DOID:83 cataract susceptibility ISO RGD:1347093 D RGD:9068941 20200609 RGD protein:missense mutation:exon:p.R287W (human) PMID:10729115|REF_RGD_ID:1600516 8764131 Bfsp2 beaded filament structural protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1347093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 8764131 Bfsp2 beaded filament structural protein 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8764131 Bfsp2 beaded filament structural protein 2 gene DOID:9270 alkaptonuria ISO RGD:1347093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8764140 Arhgap36 Rho GTPase activating protein 36 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8764140 Arhgap36 Rho GTPase activating protein 36 gene DOID:12849 autistic disorder ISO RGD:1603262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8764140 Arhgap36 Rho GTPase activating protein 36 gene DOID:630 genetic disease ISO RGD:1603262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764163 Hbp1 HMG-box transcription factor 1 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:733921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG5-CDG 8764163 Hbp1 HMG-box transcription factor 1 gene DOID:0080600 COVID-19 ISO RGD:733921 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8764163 Hbp1 HMG-box transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8764163 Hbp1 HMG-box transcription factor 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:733921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 8764163 Hbp1 HMG-box transcription factor 1 gene DOID:630 genetic disease ISO RGD:733921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764163 Hbp1 HMG-box transcription factor 1 gene DOID:8398 osteoarthritis ISO RGD:733921 D RGD:9068941 20200609 RGD PMID:22586168|REF_RGD_ID:10402054 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0050589 inflammatory bowel disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:17111197|REF_RGD_ID:10449410 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) PMID:17712558|REF_RGD_ID:6893517 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0050830 peripheral artery disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human) PMID:16274479|REF_RGD_ID:6893659 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:20162297|REF_RGD_ID:8693343 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (human) PMID:16365753|REF_RGD_ID:10449416 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0050873 follicular lymphoma ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0060041 autism spectrum disorder ISO RGD:733483 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0060058 lymphoma ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799656 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17488658 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0060326 myelomeningocele ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16602021 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733483 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0060770 dextro-looped transposition of the great arteries susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: : rs1801133(human) PMID:22868813|REF_RGD_ID:11565105 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0060903 thrombosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:10780318|REF_RGD_ID:10449414 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0070004 myeloid neoplasm ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C (human) PMID:23107469|REF_RGD_ID:10449419 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27713094 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:15022402|REF_RGD_ID:11565178 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:12797455|REF_RGD_ID:11565104 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0080016 spina bifida susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10791559|REF_RGD_ID:6893455 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0080074 neural tube defect ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25736335|PMID:25741868 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0080074 neural tube defect susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:8826441|REF_RGD_ID:11565102 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0080177 hepatic veno-occlusive disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:24583625|REF_RGD_ID:14696752 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0080178 mucositis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17488658 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A > C (human) PMID:24488901|REF_RGD_ID:14696706 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:17563923|REF_RGD_ID:14696748 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:733483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0081267 graft-versus-host disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16518429 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0081267 graft-versus-host disease treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19005482|REF_RGD_ID:6893635 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:733483 D RGD:7240710 20240308 OMIM 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:733483 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT | ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:10196703|PMID:10323741|PMID:10440833|PMID:10679944|PMID:10732818|PMID:10869114|PMID:10923034|PMID:10930360|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:16172608|PMID:16199547|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29246599|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:33089527|PMID:34214447|PMID:35322348|PMID:35499206|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:10024 migraine with aura susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:21635773|REF_RGD_ID:7387244 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:10159 osteonecrosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:SNP: :677C>T (human) PMID:9840906|REF_RGD_ID:10449417 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:10283 prostate cancer ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:10534 stomach cancer no_association ISO RGD:733483 D RGD:9068941 20200814 RGD DNA:missense mutation:cds:g.677C>T (human) PMID:23183616|PMID:24615072|REF_RGD_ID:38501052|REF_RGD_ID:38501056 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:10548 cardia cancer no_association ISO RGD:733483 D RGD:9068941 20200813 RGD associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) PMID:24615072|REF_RGD_ID:38501052 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1059 intellectual disability ISO RGD:733483 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:12733064|PMID:25736335|PMID:25741868|PMID:26025547|PMID:28492532|PMID:7726158 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:10652 Alzheimer's disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1067 open-angle glaucoma no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: : 677C>T, 1298A>C (human) PMID:17558844|REF_RGD_ID:7387254 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:15808177|REF_RGD_ID:7387252 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1074 kidney failure ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:20433440|REF_RGD_ID:6893515 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1801133(human) PMID:22065928|REF_RGD_ID:7387224 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:22924497|REF_RGD_ID:10449403 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:20113291|REF_RGD_ID:10449420 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:10923 sickle cell anemia severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:22924497|REF_RGD_ID:10449403 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C,677C>T(human) PMID:21819229|REF_RGD_ID:11565109 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :1298A>C(human) PMID:21897766|REF_RGD_ID:11565107 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22747749 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer no_association ISO RGD:733483 D RGD:9068941 20200609 RGD protein:missense mutation:cds:p.A222V (human) PMID:17311259|REF_RGD_ID:6893597 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) PMID:20146887|REF_RGD_ID:6893516 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:22126575|REF_RGD_ID:6893457 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transversion:cds:g.1298A>C (human) PMID:19837268|REF_RGD_ID:6893521 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:11166 papillomavirus infectious disease no_association ISO RGD:733483 D RGD:9068941 20200814 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:23444906|REF_RGD_ID:38501058 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:11512 Budd-Chiari syndrome ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition: :677C>T (human) PMID:12221667|REF_RGD_ID:10449395 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:11512 Budd-Chiari syndrome susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:26238013|REF_RGD_ID:11537993 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:11664 nephrosclerosis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:21613384|REF_RGD_ID:6893469 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25987440|PMID:27221722|REF_RGD_ID:14696705|REF_RGD_ID:14696749 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:11713 diabetic angiopathy ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16681562 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:11836 clubfoot ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16936070 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1205 allergic disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16766537 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:12134 factor VIII deficiency no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:22411997|REF_RGD_ID:10449409 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:12134 factor VIII deficiency severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:22411997|REF_RGD_ID:10449409 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1227 neutropenia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19391036 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:12336 male infertility ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:12336 male infertility susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T(human) PMID:16247718|REF_RGD_ID:11565106 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:12361 Graves' disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:20941748|REF_RGD_ID:7387246 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:12849 autistic disorder ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19267885 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1287 cardiovascular system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16958597|PMID:25050994 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1287 cardiovascular system disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:12187094|REF_RGD_ID:1580585 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:13001 carotid stenosis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1801133, c.677C>T, p.A222V, in men only PMID:15748240|REF_RGD_ID:5509914 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T,1298A>C(human) PMID:19936026|REF_RGD_ID:7387250 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25987440|REF_RGD_ID:14696749 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:14250 Down syndrome ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16353284|PMID:16489479|PMID:16845273|PMID:17431899 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:14250 Down syndrome susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs:cds:c.677C>T,c.1298A>C (human) PMID:16489479|REF_RGD_ID:11565177 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:14330 Parkinson's disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30726997 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1459 hypothyroidism ISO RGD:1309952 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:7990714|REF_RGD_ID:6893690 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19391036 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :1298A>C (human) PMID:23498762|REF_RGD_ID:10449418 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1588 thrombocytopenia no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human) PMID:23498762|REF_RGD_ID:10449418 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1596 depressive disorder ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17074966 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1682 congenital heart disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16524890 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C(human) PMID:23289804|REF_RGD_ID:10449405 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (human) PMID:24250697|REF_RGD_ID:10449421 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:10485556|REF_RGD_ID:7387256 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:17627246|REF_RGD_ID:6893580 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:178 vascular disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19646848 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :677C>T (human) PMID:16737574|REF_RGD_ID:2317120 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1936 atherosclerosis severity ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:transversion:cds:g.1298A>C (human) PMID:17899317|REF_RGD_ID:6893579 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:1984 rectal benign neoplasm severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:21865946|REF_RGD_ID:6893664 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2043 hepatitis B no_association ISO RGD:733483 D RGD:9068941 20200820 RGD DNA:missense mutations:cds:g.1298A>C, g.2756A>G PMID:18222012|REF_RGD_ID:38508898 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2043 hepatitis B susceptibility ISO RGD:733483 D RGD:9068941 20200820 RGD DNA:transition:cds:g.677C>T (human) PMID:18222012|REF_RGD_ID:38508898 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2154 nephroblastoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19346876|REF_RGD_ID:6893546 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2316 brain ischemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15534175 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2355 anemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19391036|PMID:25007187 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2355 anemia susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma; DNA:SNP:: rs1801133(human) PMID:25007187|REF_RGD_ID:11080979 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2388 renal artery disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:16760910|REF_RGD_ID:2313876 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2452 thrombophilia ISO RGD:733483 D RGD:9068941 20200730 CTD CTD Direct Evidence: marker/mechanism PMID:17493413 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2452 thrombophilia ISO RGD:733483 D RGD:9068941 20200730 RGD associated with Liver Cirrhosis, Biliary;DNA:SNP: :677C>T (human) PMID:16570355|REF_RGD_ID:10449396 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2671 transitional cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transversion:cds:g.1298A>C (human) PMID:21046286|REF_RGD_ID:6893477 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2841 asthma ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:20456312|REF_RGD_ID:4891145 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2921 glomerulonephritis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:22111818|REF_RGD_ID:6893468 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:2987 familial mediterranean fever susceptibility ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human) PMID:28543752|REF_RGD_ID:38501050 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:3021 acute kidney failure ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17387702 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:319 spinal cord disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16361298 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:326 ischemia susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Retinal Vein Occlusion;DNA:SNP:cds:677C>T(human) PMID:17719079|REF_RGD_ID:7387251 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:3312 bipolar disorder ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17074966 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.677C>T(human) PMID:21868135|REF_RGD_ID:11565173 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.677C>T(human) PMID:21128869|REF_RGD_ID:11565111 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:3347 osteosarcoma treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19159907|REF_RGD_ID:6893634 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:3393 coronary artery disease no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:15648053|REF_RGD_ID:1580579 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:3393 coronary artery disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:12387655|REF_RGD_ID:6893453 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:3393 coronary artery disease susceptibility ISO RGD:733483 D RGD:9068941 20231026 RGD DNA:SNPs: (rs1801133, rs4846049) (Human) PMID:24315498|REF_RGD_ID:401850782 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:3526 cerebral infarction ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10929044|REF_RGD_ID:1580590 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:3572 intracranial sinus thrombosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18941937 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:37 skin disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17548696 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:409 liver disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16877991 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:4247 coronary restenosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489563 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:4362 cervical cancer susceptibility ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:missense mutation:cds:g.1298A>C (human) PMID:27771518|REF_RGD_ID:38501051 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A222V (rs1801133) (human) PMID:18098291|REF_RGD_ID:6893654 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:20039875|REF_RGD_ID:6893632 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:4467 clear cell renal cell carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:21489764|REF_RGD_ID:6893474 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:4947 cholangiocarcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17201138|REF_RGD_ID:2317119 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:5082 liver cirrhosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25987440|REF_RGD_ID:14696749 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:5409 lung small cell carcinoma severity ISO RGD:733483 D RGD:9068941 20200609 RGD protein:missense mutation:cds:p.A222V (human) PMID:17533396|REF_RGD_ID:4891158 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia ISO RGD:733483 D RGD:7240710 20240308 OMIM 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia ISO RGD:733483 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:10677336|PMID:10679944|PMID:10923034|PMID:10958762|PMID:11395038|PMID:11590551|PMID:11742092|PMID:11752418|PMID:11938441|PMID:12560871|PMID:12673793|PMID:12733064|PMID:15048559|PMID:15103709|PMID:15543147|PMID:15951337|PMID:16199547|PMID:16244782|PMID:18523009|PMID:18583979|PMID:19810817|PMID:21778025|PMID:25079578|PMID:25227144|PMID:25736335|PMID:25741868|PMID:26025547|PMID:26872964|PMID:27743313|PMID:28492532|PMID:28514598|PMID:29246599|PMID:33089527|PMID:34214447|PMID:35322348|PMID:35499206|PMID:7726158|PMID:7920641|PMID:9545395 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:5419 schizophrenia susceptibility ISO RGD:733483 D RGD:9068941 20240309 RGD DNA:transition:cds:g.677C>T (human) PMID:16172608|REF_RGD_ID:6893466 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:557 kidney disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18551038 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:5614 eye disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:SNP:cds:677C>T(human) PMID:16299146|REF_RGD_ID:7387241 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:5679 retinal disease ISO RGD:1551392 D RGD:9068941 20200609 RGD PMID:20532821|REF_RGD_ID:7387239 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:5844 myocardial infarction ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:10090925|REF_RGD_ID:10449412 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:5844 myocardial infarction susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:transition:cds:g.677C>T rs1801133 (human) PMID:19272686|REF_RGD_ID:6893548 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:61 mitral valve disease susceptibility ISO RGD:733483 D RGD:9068941 20210305 RGD associated with rheumatic heart disease;DNA:SNP:cds:677C>T (human) PMID:26813460|REF_RGD_ID:11537145 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:615 leukopenia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:630 genetic disease ISO RGD:733483 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25736335|PMID:25741868|PMID:28492532 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:6364 migraine susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:21635773|REF_RGD_ID:7387244 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: : rs1801133(human) PMID:22868813|REF_RGD_ID:11565105 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:23996892|REF_RGD_ID:14696704 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma onset ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C(human) PMID:19035314|REF_RGD_ID:14696707 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :677C>T, 1298A>C(human) PMID:17503006|REF_RGD_ID:14696703 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:17659576|REF_RGD_ID:14696708 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:733483 D RGD:9068941 20210305 RGD DNA:SNP:cds:677C>T (human) PMID:25060515|REF_RGD_ID:42722610 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22104130 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:23685257|REF_RGD_ID:7387222 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:74 hematopoietic system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:7693 abdominal aortic aneurysm ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:17398378|REF_RGD_ID:6893584 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:77 gastrointestinal system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:25664255|REF_RGD_ID:14696732 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19520069|REF_RGD_ID:6893523 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease severity ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:14737040|REF_RGD_ID:6893524 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:19520684|REF_RGD_ID:6893522 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:783 end stage renal disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A (human) PMID:17899317|REF_RGD_ID:6893579 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:784 chronic kidney disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:g.677C>T (human) PMID:23595572|REF_RGD_ID:7244284 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:7997 thyrotoxicosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18941937 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:7998 hyperthyroidism ISO RGD:1309952 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:7990714|REF_RGD_ID:6893690 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:8029 sporadic breast cancer no_association ISO RGD:733483 D RGD:9068941 20200814 RGD DNA:missense mutations:cds:g.677C>T, g.1298A>T (human) PMID:28330681|REF_RGD_ID:38501055 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:83 cataract susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: : 677C>T, 1298A>C (human) PMID:16310481|REF_RGD_ID:7387253 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:8552 chronic myeloid leukemia ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:17156840|REF_RGD_ID:10449408 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:863 nervous system disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:8725 vascular dementia ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:8736 smallpox treatment ISO RGD:733483 D RGD:9068941 20210305 RGD DNA:SNP:exon:rs1801133(human) PMID:18454680|REF_RGD_ID:42722608 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:8778 Crohn's disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28002332 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:9040583|REF_RGD_ID:6893525 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:733483 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:17303386 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9000027 Microsatellite Instability ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17350979 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9000217 Stomach Neoplasms ISO RGD:733483 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:10196703|PMID:10323741|PMID:10440833|PMID:10732818|PMID:10869114|PMID:10930360|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:16172608|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9000326 Thrombotic Microangiopathies susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19448163|REF_RGD_ID:6893633 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9000528 Coronary Disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16792904 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704422 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:1309952 D RGD:9068941 20240210 RGD mRNA:altered expression:hippocampus|hypothalamus (rat) PMID:26180184|REF_RGD_ID:11074449 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9001542 Albuminuria susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:22554825|REF_RGD_ID:6893631 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:733483 D RGD:7240710 20240308 OMIM 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:733483 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24797679|PMID:24908438|PMID:24997712|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31870219|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:33089527|PMID:3347350|PMID:34015165|PMID:3580562|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:733483 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:18854913|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20236116|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24726568|PMID:24797679|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25758715|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27527345|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28241805|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31069529|PMID:31462756|PMID:32161077|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:32939339|PMID:33089527|PMID:33125268|PMID:3347350|PMID:34015165|PMID:34214447|PMID:34845156|PMID:35008593|PMID:35322348|PMID:35499206|PMID:35578252|PMID:3580562|PMID:36901693|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:733483 D RGD:7240710 20240308 OMIM 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:733483 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11916316|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:18854913|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20236116|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24241962|PMID:24797679|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28241805|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29284203|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31069529|PMID:32161077|PMID:32451826|PMID:32612964|PMID:32695297|PMID:32939339|PMID:33089527|PMID:33125268|PMID:34015165|PMID:34214447|PMID:34845156|PMID:35008593|PMID:35322348|PMID:35499206|PMID:35578252|PMID:36901693|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:18280442|REF_RGD_ID:6893576 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) PMID:14737040|REF_RGD_ID:6893524 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16706930 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9002269 Mthfr Deficiency, Thermolabile Type ISO RGD:733483 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17967524 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9002557 Inherited Blood Coagulation Disease ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17493413 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9002704 Leukoencephalopathies ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9002775 Cognitive Dysfunction ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mental deterioration PMID:25741868 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9002928 Colonic Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284371 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303386 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003505 Venous Thromboembolism ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:25207100|REF_RGD_ID:10449399 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003505 Venous Thromboembolism no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T, 1298A>C (human) PMID:25207100|REF_RGD_ID:10449399 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003758 Banti's Syndrome susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:18685811|REF_RGD_ID:10755472 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16275406 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T(human) PMID:20798492|REF_RGD_ID:7387236 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:16572609|REF_RGD_ID:7387240 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs:cds:677C>T,1298A>C(human) PMID:15775757|REF_RGD_ID:7387243 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19123085 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10929044|REF_RGD_ID:1580590 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition: :677C>T (human) PMID:12442281|REF_RGD_ID:10449394 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:10792297|REF_RGD_ID:6893655 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human) PMID:22707612|REF_RGD_ID:6893602 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9004538 Hearing Loss susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP:cds:677C>T(human) PMID:21385350|REF_RGD_ID:7387225 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9004563 Maxillofacial Abnormalities ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16832597 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:25664255|REF_RGD_ID:14696732 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9005172 Lung Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389614 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9005236 Drug Eruptions ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14723717 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309952 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:9836532|REF_RGD_ID:6893689 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9005695 Malnutrition ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9005749 Necrosis ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14723717 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9006262 Cytomegalovirus Infections ISO RGD:733483 D RGD:9068941 20210305 RGD PMID:19609317|REF_RGD_ID:42722609 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9006262 Cytomegalovirus Infections ameliorates ISO RGD:1551392 D RGD:9068941 20210305 RGD PMID:19609317|REF_RGD_ID:42722609 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9006332 Vascular Calcification severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:21394321|REF_RGD_ID:6893475 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:10477457|REF_RGD_ID:10449401 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9006532 Hematologic Neoplasms no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :677C>T (human) PMID:21984221|REF_RGD_ID:10449413 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9006532 Hematologic Neoplasms treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:21984221|REF_RGD_ID:10449413 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437|PMID:16166815|PMID:17387702|PMID:17502830|PMID:18551038|PMID:19159907|PMID:19391036|PMID:19821069|PMID:21064136|PMID:25007187|PMID:26077125 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9007096 Stroke ISO RGD:733483 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Stroke PMID:10196703|PMID:10323741|PMID:10440833|PMID:10732818|PMID:10869114|PMID:10930360|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:16172608|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9007096 Stroke no_association ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:missense mutation:cds:677C>T (human) PMID:9840906|REF_RGD_ID:10449417 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18551038|PMID:19648163 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:733483 D RGD:9068941 20200609 RGD associated with precursor lymphoblastic lymphoma/leukemia; DNA:SNP: :677C>T(human) PMID:30545275|REF_RGD_ID:14696733 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9007456 Female Infertility ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16679164 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9007479 Habitual Abortions ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C (human) PMID:22047507|PMID:22882325|REF_RGD_ID:10449404|REF_RGD_ID:10449415 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9007479 Habitual Abortions no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNP: :1298A>C (human) PMID:19906129|REF_RGD_ID:10449411 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9007617 Conotruncal Cardiac Defects no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs:cds:c.677C>T,c.1298A>C (human) PMID:12705333|REF_RGD_ID:11565174 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9007715 Endometrial Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17301261 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9007908 Aortic Coarctation ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19764075|REF_RGD_ID:4891157 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9007964 Arsenic Poisoning ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24384392 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9008086 Developmental Disabilities ISO RGD:733483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:733483 D RGD:9068941 20200814 RGD associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) PMID:20957490|PMID:23183616|REF_RGD_ID:38501056|REF_RGD_ID:38501057 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15608557|PMID:16512993|PMID:16985020|PMID:17047490|PMID:17087956|PMID:17245555|PMID:17350979|PMID:18676755|PMID:26858257 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9008887 Microvascular Angina ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17491230 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9008887 Microvascular Angina ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:17491230|REF_RGD_ID:4891159 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9008939 Breast Neoplasms ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16777985|PMID:17595805|PMID:28114181 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9119 acute myeloid leukemia ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:17156840|REF_RGD_ID:10449408 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:916 liver benign neoplasm onset ISO RGD:1309952 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:22213190|REF_RGD_ID:6893663 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733483 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10459572|PMID:15226090|PMID:16317120|PMID:16397167|PMID:16411416|PMID:16575899|PMID:17387702|PMID:18234410|PMID:18551038|PMID:19204075|PMID:19646848 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations:CDS:multiple (human) PMID:10679944|REF_RGD_ID:1601421 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human) PMID:12471611|REF_RGD_ID:10449400 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9296 cleft lip ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470725 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9296 cleft lip susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.677C>T(human) PMID:27387868|REF_RGD_ID:11565179 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9351 diabetes mellitus no_association ISO RGD:733483 D RGD:9068941 20200813 RGD DNA:transition:cds:g.677C>T (human) PMID:9607212|REF_RGD_ID:38501049 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:19996639|REF_RGD_ID:6893653 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) PMID:16828193|REF_RGD_ID:6893657 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transition:cds:g.677C>T (human) PMID:21186995|REF_RGD_ID:6893476 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9406 hypopituitarism ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T, 1298A>C(human) PMID:21107737|REF_RGD_ID:10449406 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9452 steatotic liver disease ISO RGD:733483 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human) PMID:15834927|REF_RGD_ID:1580580 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9477 pulmonary embolism ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19123085 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9538 multiple myeloma ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:677C>T, 1298A>C (human) PMID:24839819|REF_RGD_ID:10449397 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9663 aphthous stomatitis severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (rs1801133) (human) PMID:23665953|REF_RGD_ID:10449402 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:transversion:cds:g.1298A>C (human) PMID:18774994|REF_RGD_ID:6893652 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9849 Meniere's disease susceptibility ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human) PMID:23484733|REF_RGD_ID:7387223 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:987 alopecia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16706930 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) PMID:19923983|REF_RGD_ID:10449398 8764184 Mthfr methylenetetrahydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:733483 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:677C>T (human) PMID:21644011|REF_RGD_ID:10449407 8764212 Rab32 RAB32, member RAS oncogene family gene DOID:1024 leprosy ISO RGD:1345972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22019778 8764212 Rab32 RAB32, member RAS oncogene family gene DOID:14261 fragile X syndrome ISO RGD:1345972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome 8764212 Rab32 RAB32, member RAS oncogene family gene DOID:3042 allergic contact dermatitis ISO RGD:1345972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8764212 Rab32 RAB32, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8764212 Rab32 RAB32, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1345972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764212 Rab32 RAB32, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8764228 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:0050457 Sertoli cell-only syndrome ISO RGD:737263 D RGD:9068941 20200609 RGD protein:decreased expression:testis (human) PMID:22245417|REF_RGD_ID:9999426 8764228 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737263 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8764228 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:1319 brain cancer susceptibility ISO RGD:737263 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;mRNA:decreased expression:bone marrow (human) PMID:15543619|REF_RGD_ID:10002773 8764228 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:1324 lung cancer severity ISO RGD:737263 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:20972334|REF_RGD_ID:9999427 8764228 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:418 systemic scleroderma ISO RGD:737263 D RGD:9068941 20200609 RGD PMID:21569507|REF_RGD_ID:9999440 8764228 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:630 genetic disease ISO RGD:737263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764228 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:684 hepatocellular carcinoma ISO RGD:737263 D RGD:9068941 20200609 RGD associated with Hepatitis B PMID:24125732|REF_RGD_ID:9999429 8764228 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:9000217 Stomach Neoplasms ISO RGD:737263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8764228 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:9000918 Disease Progression ISO RGD:737263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8764228 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:9008939 Breast Neoplasms ISO RGD:737263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8764228 Hnrnpl heterogeneous nuclear ribonucleoprotein L gene DOID:9352 type 2 diabetes mellitus ISO RGD:737263 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:736788 D RGD:7240710 20190315 OMIM 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:736788 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COL5A2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 PMID:11940702|PMID:17576681|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28492532|PMID:2855059|PMID:28550590|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31903434|PMID:32381727|PMID:33161638|PMID:33834621|PMID:9536098 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:25741868|PMID:28492532 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:736788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:17576681|PMID:25326637|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30467950|PMID:33161638|PMID:9536098 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:17576681|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30467950|PMID:33161638|PMID:9536098 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:0111944 immunodeficiency 31B ISO RGD:736788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:10126 keratoconus ISO RGD:736788 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Keratoconus 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:13207 proliferative diabetic retinopathy ISO RGD:736788 D RGD:9068941 20231102 RGD mRNA:increased expression:retina (human) PMID:35692390|REF_RGD_ID:401851065 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:736788 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11940702|PMID:17576681|PMID:25741868|PMID:28132693|PMID:28492532|PMID:2855059|PMID:28550590|PMID:9536098 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:33161638|PMID:9536098 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:33161638|PMID:9536098 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:9536098 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:33974636|PMID:9536098 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:736788 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:33974636|PMID:9536098 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14323 Marfan syndrome ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:28991257|PMID:31829210 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:28132693|PMID:28166811|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:31903434|PMID:9425231|PMID:9536098|PMID:9783710 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:31903434|PMID:33161638|PMID:9425231|PMID:9536098|PMID:9783710 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:31903434|PMID:33161638|PMID:9425231|PMID:9536098|PMID:9783710 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32736638|PMID:33161638|PMID:33834621|PMID:33974636|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736788 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32736638|PMID:33161638|PMID:33834621|PMID:33974636|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:1588 thrombocytopenia ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:1882 atrial heart septal defect ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:2213 hemorrhagic disease ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:5082 liver cirrhosis ISO RGD:736788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:520 aortic disease ISO RGD:736788 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:25741868|PMID:28492532 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:630 genetic disease ISO RGD:736788 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30675029 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:736788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:17576681|PMID:25741868|PMID:28087566|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:9536098 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:850 lung disease ISO RGD:736788 D RGD:9068941 20231102 RGD mRNA:increased expression:lung (human) PMID:37731513|REF_RGD_ID:401851918 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:20648054|PMID:22696272|PMID:23587214|PMID:24922459|PMID:28492532 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:736788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:9003591 Telecanthus ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Telecanthus PMID:25741868|PMID:28492532 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:736788 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:28991257|PMID:31829210 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:9005890 Disproportionate Tall Stature ISO RGD:736788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868|PMID:28492532 8764257 Col5a2 collagen type V alpha 2 chain gene DOID:9008296 Eye Abnormalities ISO RGD:736788 D RGD:9068941 20200609 RGD DNA:splicing error PMID:16431952|REF_RGD_ID:1600694 8764323 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0050684 Bowen-Conradi syndrome ISO RGD:1607076 D RGD:7240710 20180130 OMIM 8764323 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0050684 Bowen-Conradi syndrome ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bowen-Conradi syndrome PMID:19463982|PMID:25741868|PMID:28492532 8764323 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1607076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8764323 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8764323 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8764323 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8764323 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:0111621 Temtamy syndrome ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8764323 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1607076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8764323 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:630 genetic disease ISO RGD:1607076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764323 Emg1 EMG1 N1-specific pseudouridine methyltransferase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1607076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8764333 Pram1 PML-RARA regulated adaptor molecule 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1604582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 8764333 Pram1 PML-RARA regulated adaptor molecule 1 gene DOID:12849 autistic disorder ISO RGD:1604582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8764333 Pram1 PML-RARA regulated adaptor molecule 1 gene DOID:630 genetic disease ISO RGD:1604582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764356 Rasef RAS and EF-hand domain containing gene DOID:630 genetic disease ISO RGD:1315020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:68993 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868|PMID:28492532 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:0080325 tuberous sclerosis 2 ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68993 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:11446 sciatic neuropathy ISO RGD:68943 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:22972512|REF_RGD_ID:15042903 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:12241 beta thalassemia ISO RGD:68993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31542421 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:12849 autistic disorder ISO RGD:68993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16754686 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:1825 childhood absence epilepsy ISO RGD:68993 D RGD:8554872 20221101 ClinVar ClinVar Annotator: match by term: CACNA1H-related disorder PMID:28492532 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:1826 epilepsy ISO RGD:68993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:16199547|PMID:16529636|PMID:16754686|PMID:17576681|PMID:17696120|PMID:21099341|PMID:23757202|PMID:24277868|PMID:24972929|PMID:25640679|PMID:25741868|PMID:25773295|PMID:25907736|PMID:26467025|PMID:26587300|PMID:26706850|PMID:27066544|PMID:27148582|PMID:27331657|PMID:27729216|PMID:28166811|PMID:28488083|PMID:28492532|PMID:28842445|PMID:30860130|PMID:31070086|PMID:31130284|PMID:31139143|PMID:31651342|PMID:32227660|PMID:33083721|PMID:9536098 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68993 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:16199547|PMID:16529636|PMID:16754686|PMID:17576681|PMID:17696120|PMID:21099341|PMID:21703448|PMID:23757202|PMID:24277868|PMID:24972929|PMID:25640679|PMID:25741868|PMID:25773295|PMID:25907736|PMID:26467025|PMID:26587300|PMID:26706850|PMID:27066544|PMID:27148582|PMID:27331657|PMID:27729216|PMID:28166811|PMID:28488083|PMID:28492532|PMID:28842445|PMID:30860130|PMID:31070086|PMID:31130284|PMID:31139143|PMID:31651342|PMID:32227660|PMID:33083721|PMID:33478561|PMID:35910327|PMID:36397158|PMID:9536098 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:2234 focal epilepsy ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:3007 breast ductal carcinoma ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:26467025|PMID:27148582|PMID:28492532 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:446 primary hyperaldosteronism ISO RGD:68993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperaldosteronism | ClinVar Annotator: match by term: Primary aldosteronism PMID:25741868|PMID:25907736|PMID:28492532 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:574 peripheral nervous system disease ISO RGD:68993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30552955 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:630 genetic disease ISO RGD:68993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9001945 Childhood Absence Epilepsy 6 ISO RGD:68993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6 PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:16199547|PMID:16529636|PMID:16754686|PMID:17576681|PMID:17696120|PMID:21099341|PMID:24277868|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26587300|PMID:27331657|PMID:28488083|PMID:28492532|PMID:30860130|PMID:31130284|PMID:31651342|PMID:32227660|PMID:33083721|PMID:9536098 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9001945 Childhood Absence Epilepsy 6 ISO RGD:68993 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6 PMID:12891677|PMID:14729682|PMID:15048902|PMID:15852375|PMID:15888660|PMID:16199547|PMID:16529636|PMID:16754686|PMID:17576681|PMID:17696120|PMID:21099341|PMID:24277868|PMID:25741868|PMID:26467025|PMID:26587300|PMID:27331657|PMID:28488083|PMID:28492532|PMID:30860130|PMID:31130284|PMID:31651342|PMID:32227660|PMID:33083721|PMID:9536098 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9001945 Childhood Absence Epilepsy 6 susceptibility ISO RGD:68993 D RGD:7240710 20240320 OMIM 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9002211 Hyperalgesia ISO RGD:68993 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:19577366|PMID:30552955|PMID:34286406 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9003950 Familial Hyperaldosteronism, Type IV ISO RGD:68993 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ALDOSTERONISM, PRIMARY, AND HYPERTENSION | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV PMID:17696120|PMID:25741868|PMID:25907736|PMID:26467025|PMID:27331657|PMID:27729216|PMID:28492532 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9003950 Familial Hyperaldosteronism, Type IV susceptibility ISO RGD:68993 D RGD:7240710 20240320 OMIM 8764373 Cacna1h calcium voltage-gated channel subunit alpha1 H gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:68993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30552955 8764414 Luzp2 leucine zipper protein 2 gene DOID:1059 intellectual disability ISO RGD:1347178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8764414 Luzp2 leucine zipper protein 2 gene DOID:630 genetic disease ISO RGD:1347178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764438 Cd248 CD248 molecule gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1353954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8764438 Cd248 CD248 molecule gene DOID:1059 intellectual disability ISO RGD:1353954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8764438 Cd248 CD248 molecule gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8764438 Cd248 CD248 molecule gene DOID:2746 glycogen storage disease V ISO RGD:1353954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8764438 Cd248 CD248 molecule gene DOID:630 genetic disease ISO RGD:1353954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764438 Cd248 CD248 molecule gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1353954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8764438 Cd248 CD248 molecule gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1353954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0050699 Dent disease ISO RGD:733029 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dent disease | ClinVar Annotator: match by term: Dent's disease PMID:11136179|PMID:15719255|PMID:15814539|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:27889724|PMID:28492532|PMID:31672324|PMID:32683654 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0080353 X-linked recessive hypophosphatemic rickets ISO RGD:733029 D RGD:7240710 20181017 OMIM 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0080353 X-linked recessive hypophosphatemic rickets ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive PMID:11136179|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:31672324|PMID:32683654|PMID:7915957|PMID:8559248|PMID:9187673|PMID:9734595 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:733029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0111798 X-linked nephrolithiasis type I ISO RGD:733029 D RGD:7240710 20180130 OMIM 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0111798 X-linked nephrolithiasis type I ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 | ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure PMID:11136179|PMID:12637640|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:31672324|PMID:32683654|PMID:7915957|PMID:8559248|PMID:9187673|PMID:9602200|PMID:9734595 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis ISO RGD:733029 D RGD:7240710 20180130 OMIM 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis PMID:11136179|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:31672324|PMID:32683654|PMID:7915957|PMID:8559248|PMID:9062355|PMID:9187673|PMID:9734595 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:733029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:733029 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:733029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:1184 nephrotic syndrome ISO RGD:733029 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:12176 goiter ISO RGD:733029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16306076 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:12849 autistic disorder ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:3070 high grade glioma ISO RGD:733029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12843258 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:447 renal tubular transport disease ISO RGD:2362 D RGD:9068941 20200609 RGD PMID:12475763|REF_RGD_ID:628538 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:576 proteinuria ISO RGD:733029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15719255 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:630 genetic disease ISO RGD:733029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10906159|PMID:22876375|PMID:25741868|PMID:25907713|PMID:28166811|PMID:28492532|PMID:9734595 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:14673707|PMID:25741868|PMID:28492532 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:9001961 Hyperkalemia ISO RGD:733029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemia PMID:25741868 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:733029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:9008579 Dent Disease 1 ISO RGD:733029 D RGD:7240710 20180130 OMIM 8764453 Clcn5 chloride voltage-gated channel 5 gene DOID:9008579 Dent Disease 1 ISO RGD:733029 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2 PMID:10469281|PMID:10906159|PMID:11136179|PMID:12637640|PMID:14569459|PMID:15052463|PMID:15086899|PMID:15719255|PMID:15895257|PMID:16041495|PMID:16247550|PMID:16822791|PMID:16861240|PMID:18038239|PMID:18184518|PMID:19076289|PMID:19546586|PMID:19546591|PMID:19657328|PMID:19673950|PMID:19806368|PMID:21305656|PMID:22876375|PMID:24081861|PMID:25001568|PMID:25326635|PMID:25741868|PMID:25907713|PMID:26822237|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:30773290|PMID:31328266|PMID:31672324|PMID:31674016|PMID:31852738|PMID:32201916|PMID:32289351|PMID:32683654|PMID:33532864|PMID:35738466|PMID:7874126|PMID:7915957|PMID:8559248|PMID:8950885|PMID:9062355|PMID:9187673|PMID:9259268|PMID:9328929|PMID:9734595|PMID:9853249 8764475 Chmp6 charged multivesicular body protein 6 gene DOID:630 genetic disease ISO RGD:1606234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764487 Fgf3 fibroblast growth factor 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 8764487 Fgf3 fibroblast growth factor 3 gene DOID:1059 intellectual disability ISO RGD:1346722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8764487 Fgf3 fibroblast growth factor 3 gene DOID:630 genetic disease ISO RGD:1346722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8764487 Fgf3 fibroblast growth factor 3 gene DOID:674 cleft palate ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8764487 Fgf3 fibroblast growth factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 8764487 Fgf3 fibroblast growth factor 3 gene DOID:9000955 Acute Otitis Media ISO RGD:732330 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 8764487 Fgf3 fibroblast growth factor 3 gene DOID:9001349 Stomatognathic Diseases ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 8764487 Fgf3 fibroblast growth factor 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346722 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8764487 Fgf3 fibroblast growth factor 3 gene DOID:9005439 Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia ISO RGD:1346722 D RGD:7240710 20180130 OMIM 8764487 Fgf3 fibroblast growth factor 3 gene DOID:9005439 Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia ISO RGD:1346722 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) PMID:17236138|PMID:18435799|PMID:19950373|PMID:21306635|PMID:21480479|PMID:22993869|PMID:25741868|PMID:28492532|PMID:31336982|PMID:33187236 8764487 Fgf3 fibroblast growth factor 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8764487 Fgf3 fibroblast growth factor 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 8764487 Fgf3 fibroblast growth factor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 8764487 Fgf3 fibroblast growth factor 3 gene DOID:9296 cleft lip ISO RGD:1346722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8764499 Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing gene DOID:4239 alveolar soft part sarcoma ISO RGD:1344232 D RGD:7240710 20180130 OMIM 8764499 Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing gene DOID:630 genetic disease ISO RGD:1344232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764522 Prss53 serine protease 53 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:2860194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8764522 Prss53 serine protease 53 gene DOID:630 genetic disease ISO RGD:2860194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764564 Rtn4r reticulon 4 receptor gene DOID:0060041 autism spectrum disorder ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8764564 Rtn4r reticulon 4 receptor gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1607007 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8764564 Rtn4r reticulon 4 receptor gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1607007 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8764564 Rtn4r reticulon 4 receptor gene DOID:1059 intellectual disability ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8764564 Rtn4r reticulon 4 receptor gene DOID:11198 DiGeorge syndrome ISO RGD:1607007 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8764564 Rtn4r reticulon 4 receptor gene DOID:11372 megacolon ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8764564 Rtn4r reticulon 4 receptor gene DOID:12583 velocardiofacial syndrome ISO RGD:1607007 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8764564 Rtn4r reticulon 4 receptor gene DOID:12849 autistic disorder ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8764564 Rtn4r reticulon 4 receptor gene DOID:1826 epilepsy ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8764564 Rtn4r reticulon 4 receptor gene DOID:2213 hemorrhagic disease ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8764564 Rtn4r reticulon 4 receptor gene DOID:5419 schizophrenia ISO RGD:1607007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:15532024|PMID:21681106|PMID:30208311 8764564 Rtn4r reticulon 4 receptor gene DOID:5419 schizophrenia susceptibility ISO RGD:1607007 D RGD:7240710 20230505 OMIM 8764564 Rtn4r reticulon 4 receptor gene DOID:612 primary immunodeficiency disease ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8764564 Rtn4r reticulon 4 receptor gene DOID:630 genetic disease ISO RGD:1607007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764564 Rtn4r reticulon 4 receptor gene DOID:9003871 Venous Thrombosis ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8764564 Rtn4r reticulon 4 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8764573 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8764573 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8764573 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8764573 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:1059 intellectual disability ISO RGD:731659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8764573 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:12712 nephronophthisis ISO RGD:731659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8764573 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:14004 thoracic aortic aneurysm ISO RGD:731659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8764573 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:630 genetic disease ISO RGD:731659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764573 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:9000039 Spinal Cord Injuries ISO RGD:621285 D RGD:9068941 20200609 RGD PMID:25034417|REF_RGD_ID:10401137 8764573 Anp32b acidic nuclear phosphoprotein 32 family member B gene DOID:9001793 Generalized Epilepsy ISO RGD:731659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8764586 Anxa3 annexin A3 gene DOID:1686 glaucoma ISO RGD:2119 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18055803|REF_RGD_ID:2289160 8764586 Anxa3 annexin A3 gene DOID:630 genetic disease ISO RGD:735865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764586 Anxa3 annexin A3 gene DOID:7148 rheumatoid arthritis ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 8764586 Anxa3 annexin A3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8764586 Anxa3 annexin A3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8764586 Anxa3 annexin A3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21435174 8764586 Anxa3 annexin A3 gene DOID:9074 systemic lupus erythematosus ISO RGD:735865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 8764609 Cemip2 cell migration inducing hyaluronidase 2 gene DOID:630 genetic disease ISO RGD:1317427 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764609 Cemip2 cell migration inducing hyaluronidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8764609 Cemip2 cell migration inducing hyaluronidase 2 gene DOID:9003133 Hypertelorism ISO RGD:1317427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 8764609 Cemip2 cell migration inducing hyaluronidase 2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1317427 D RGD:9068941 20201211 RGD DNA:SNP:exon: p.Ser1254Asn (human) PMID:22610944|REF_RGD_ID:40886317 8764665 Mideas mitotic deacetylase associated SANT domain protein gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1314547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 8764665 Mideas mitotic deacetylase associated SANT domain protein gene DOID:1059 intellectual disability ISO RGD:1314547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8764665 Mideas mitotic deacetylase associated SANT domain protein gene DOID:630 genetic disease ISO RGD:1314547 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764683 Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:10534 stomach cancer ISO RGD:1322308 D RGD:9068941 20200609 RGD protein:decreased expression:stomach: PMID:21789020|REF_RGD_ID:10401218 8764683 Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1322308 D RGD:9068941 20200609 RGD protein:decreased expression:urothelium: PMID:24917520|REF_RGD_ID:10401219 8764683 Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:3911 progeria ISO RGD:1322309 D RGD:9068941 20200609 RGD PMID:20726853|REF_RGD_ID:10401221 8764683 Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:630 genetic disease ISO RGD:1322308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764683 Eef1e1 eukaryotic translation elongation factor 1 epsilon 1 gene DOID:9256 colorectal cancer ISO RGD:1322308 D RGD:9068941 20200609 RGD protein:decreased expression:colorectum: PMID:21789020|REF_RGD_ID:10401218 8764700 Rasgrp3 RAS guanyl releasing protein 3 gene DOID:10763 hypertension ISO RGD:1312152 D RGD:9068941 20200609 RGD PMID:19421330|REF_RGD_ID:2314812 8764700 Rasgrp3 RAS guanyl releasing protein 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1312152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 8764700 Rasgrp3 RAS guanyl releasing protein 3 gene DOID:630 genetic disease ISO RGD:1312152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764700 Rasgrp3 RAS guanyl releasing protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1312152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 8764736 Klhl35 kelch like family member 35 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1603871 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8764736 Klhl35 kelch like family member 35 gene DOID:1059 intellectual disability ISO RGD:1603871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8764736 Klhl35 kelch like family member 35 gene DOID:630 genetic disease ISO RGD:1603871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764765 Denr density regulated re-initiation and release factor gene DOID:630 genetic disease ISO RGD:1351149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764778 Mis12 MIS12 kinetochore complex component gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1346036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8764778 Mis12 MIS12 kinetochore complex component gene DOID:630 genetic disease ISO RGD:1346036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764778 Mis12 MIS12 kinetochore complex component gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8764787 Lrriq3 leucine rich repeats and IQ motif containing 3 gene DOID:630 genetic disease ISO RGD:1603911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764834 Rasgrf2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:305 carcinoma ISO RGD:69460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 8764834 Rasgrf2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:630 genetic disease ISO RGD:69460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764834 Rasgrf2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 8764834 Rasgrf2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8764834 Rasgrf2 Ras protein specific guanine nucleotide releasing factor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 8764869 Upp1 uridine phosphorylase 1 gene DOID:0060496 respiratory allergy ISO RGD:1313669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 8764869 Upp1 uridine phosphorylase 1 gene DOID:2843 long QT syndrome ISO RGD:1313669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8764869 Upp1 uridine phosphorylase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1313669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8764869 Upp1 uridine phosphorylase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1305566 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain (rat) PMID:18457515|REF_RGD_ID:2317094 8764869 Upp1 uridine phosphorylase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8764891 Cbln2 cerebellin 2 precursor gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320203 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8764891 Cbln2 cerebellin 2 precursor gene DOID:630 genetic disease ISO RGD:1320203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764891 Cbln2 cerebellin 2 precursor gene DOID:6420 pulmonary valve stenosis ISO RGD:1320203 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8764891 Cbln2 cerebellin 2 precursor gene DOID:6432 pulmonary hypertension ISO RGD:1320203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23502781 8764891 Cbln2 cerebellin 2 precursor gene DOID:8445 intestinal volvulus ISO RGD:1320203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8764891 Cbln2 cerebellin 2 precursor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8764891 Cbln2 cerebellin 2 precursor gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1317446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:0050610 oral cavity carcinoma in situ disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:27499128|REF_RGD_ID:28867233 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:0080600 COVID-19 ISO RGD:1317446 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:28498618|REF_RGD_ID:28867238 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:10534 stomach cancer ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:19081476|REF_RGD_ID:28867243 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:10534 stomach cancer ISO RGD:1317446 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:19878654|REF_RGD_ID:28867241 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:1540 parathyroid carcinoma ISO RGD:1317446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:1612 breast cancer disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:31140425|PMID:31198978|REF_RGD_ID:28867230|REF_RGD_ID:28867231 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:1793 pancreatic cancer ISO RGD:1317446 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:26045769|REF_RGD_ID:11058437 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:1793 pancreatic cancer treatment ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:25370920|REF_RGD_ID:28867232 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:1909 melanoma disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:27237743|REF_RGD_ID:28867234 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:17079454|REF_RGD_ID:28867236 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1317446 D RGD:9068941 20200611 RGD PMID:32226507|REF_RGD_ID:28912743 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:630 genetic disease ISO RGD:1317446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma ISO RGD:1317446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1317446 D RGD:9068941 20200611 RGD PMID:31933938|REF_RGD_ID:28912742 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:30653265|REF_RGD_ID:28867240 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:9001308 Wittwer Syndrome ISO RGD:1317446 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wittwer syndrome 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:9007661 Dwarfism ISO RGD:1317446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:33721060 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:9256 colorectal cancer ISO RGD:1317446 D RGD:9068941 20200609 RGD mRNA:increased expression:colorectum PMID:19878654|REF_RGD_ID:28867241 8764915 Nuf2 NUF2 component of NDC80 kinetochore complex gene DOID:9256 colorectal cancer disease_progression ISO RGD:1317446 D RGD:9068941 20200609 RGD PMID:24247253|REF_RGD_ID:28867244 8764937 Pla2g7 phospholipase A2 group VII gene DOID:0050848 obstructive sleep apnea ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:21698055|REF_RGD_ID:6482785 8764937 Pla2g7 phospholipase A2 group VII gene DOID:0050851 glomerulosclerosis ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:16213192|REF_RGD_ID:7248790 8764937 Pla2g7 phospholipase A2 group VII gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1321810 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22112193|REF_RGD_ID:6482771 8764937 Pla2g7 phospholipase A2 group VII gene DOID:0080379 nephrotic syndrome type 2 disease_progression ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:9853251|REF_RGD_ID:7248793 8764937 Pla2g7 phospholipase A2 group VII gene DOID:1184 nephrotic syndrome ISO RGD:1310734 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:8692015|REF_RGD_ID:7257517 8764937 Pla2g7 phospholipase A2 group VII gene DOID:1184 nephrotic syndrome ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:15292677|REF_RGD_ID:7248795 8764937 Pla2g7 phospholipase A2 group VII gene DOID:12554 hemolytic-uremic syndrome severity ISO RGD:1321810 D RGD:9068941 20200609 RGD associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human) PMID:10873870|REF_RGD_ID:7257516 8764937 Pla2g7 phospholipase A2 group VII gene DOID:13001 carotid stenosis severity ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:22075154|REF_RGD_ID:6482772 8764937 Pla2g7 phospholipase A2 group VII gene DOID:1307 dementia ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:16278861|REF_RGD_ID:6482779 8764937 Pla2g7 phospholipase A2 group VII gene DOID:1936 atherosclerosis ISO RGD:1321810 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 2;DNA:missense mutation: :994G>T(human) PMID:12590019|REF_RGD_ID:7248796 8764937 Pla2g7 phospholipase A2 group VII gene DOID:1936 atherosclerosis ISO RGD:1321811 D RGD:9068941 20200609 RGD PMID:21970837|REF_RGD_ID:6482784 8764937 Pla2g7 phospholipase A2 group VII gene DOID:2377 multiple sclerosis ISO RGD:1321810 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22246459|REF_RGD_ID:6482783 8764937 Pla2g7 phospholipase A2 group VII gene DOID:2841 asthma ISO RGD:1321810 D RGD:9068941 20231109 CTD CTD Direct Evidence: marker/mechanism PMID:10733466 8764937 Pla2g7 phospholipase A2 group VII gene DOID:2841 asthma ISO RGD:1321810 D RGD:9068941 20231109 RGD PMID:10733466|REF_RGD_ID:1581025 8764937 Pla2g7 phospholipase A2 group VII gene DOID:2921 glomerulonephritis ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:8730430|REF_RGD_ID:7248794 8764937 Pla2g7 phospholipase A2 group VII gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1321810 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:12220450|REF_RGD_ID:7257515 8764937 Pla2g7 phospholipase A2 group VII gene DOID:3393 coronary artery disease disease_progression ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:17070179|REF_RGD_ID:6482777 8764937 Pla2g7 phospholipase A2 group VII gene DOID:3393 coronary artery disease susceptibility ISO RGD:1321810 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A379V (human) PMID:15115767|REF_RGD_ID:6482781 8764937 Pla2g7 phospholipase A2 group VII gene DOID:3407 carotid artery disease severity ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:22499993|REF_RGD_ID:6482769 8764937 Pla2g7 phospholipase A2 group VII gene DOID:3526 cerebral infarction ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:18201705|REF_RGD_ID:6482775 8764937 Pla2g7 phospholipase A2 group VII gene DOID:576 proteinuria ISO RGD:1321810 D RGD:9068941 20200609 RGD DNA:mutation: :994G>T(human) PMID:10430976|REF_RGD_ID:7248792 8764937 Pla2g7 phospholipase A2 group VII gene DOID:5844 myocardial infarction ISO RGD:1321810 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19644070|REF_RGD_ID:6482786 8764937 Pla2g7 phospholipase A2 group VII gene DOID:6000 congestive heart failure ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:16952920|REF_RGD_ID:6482778 8764937 Pla2g7 phospholipase A2 group VII gene DOID:630 genetic disease ISO RGD:1321810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764937 Pla2g7 phospholipase A2 group VII gene DOID:655 inherited metabolic disorder ISO RGD:1321810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8675689 8764937 Pla2g7 phospholipase A2 group VII gene DOID:7148 rheumatoid arthritis ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:17326817|REF_RGD_ID:6482776 8764937 Pla2g7 phospholipase A2 group VII gene DOID:7693 abdominal aortic aneurysm ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:11807372|REF_RGD_ID:1581024 8764937 Pla2g7 phospholipase A2 group VII gene DOID:783 end stage renal disease ISO RGD:1321810 D RGD:9068941 20200609 RGD plasma:increased expression:plasma PMID:16421163|REF_RGD_ID:7248787 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9000204 Platelet-Activating Factor Acetylhydrolase Deficiency ISO RGD:1321810 D RGD:7240710 20231004 OMIM 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9000204 Platelet-Activating Factor Acetylhydrolase Deficiency ISO RGD:1321810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Platelet-activating factor acetylhydrolase deficiency PMID:10194471|PMID:10733466|PMID:16787988|PMID:25741868|PMID:28406212|PMID:8675689|PMID:9412624 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9000528 Coronary Disease ISO RGD:1321810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21356620 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9000528 Coronary Disease ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:15699277|REF_RGD_ID:6482780 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9001686 Acute Coronary Syndrome disease_progression ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:22024276|REF_RGD_ID:6482773 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1321810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10733466 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9005372 Inflammation ISO RGD:1321810 D RGD:9068941 20200609 RGD associated with Cerebral Infarction;protein:increased expression:serum PMID:19886071|REF_RGD_ID:6482774 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9005930 Endotoxemia ISO RGD:1310734 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:10748027|REF_RGD_ID:7248791 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9006332 Vascular Calcification ISO RGD:1321810 D RGD:9068941 20200609 RGD DNA:SNPs:cds, intron:multiple PMID:22340269|REF_RGD_ID:6482770 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9006646 Metabolic Syndrome ISO RGD:1310734 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21172452|REF_RGD_ID:6482748 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9007096 Stroke ISO RGD:1321810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21356620 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9007096 Stroke ISO RGD:1321810 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19644070|REF_RGD_ID:6482786 8764937 Pla2g7 phospholipase A2 group VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321810 D RGD:9068941 20200609 RGD PMID:22399516|REF_RGD_ID:6482782 8764969 Ccne1 cyclin E1 gene DOID:0050902 medulloblastoma ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8764969 Ccne1 cyclin E1 gene DOID:10763 hypertension ISO RGD:2294 D RGD:9068941 20200609 RGD protein:increased expression:vascular associated smooth muscle cell PMID:12847112|REF_RGD_ID:2289296 8764969 Ccne1 cyclin E1 gene DOID:11054 urinary bladder cancer ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972438|PMID:27514407 8764969 Ccne1 cyclin E1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18047954|REF_RGD_ID:2296035 8764969 Ccne1 cyclin E1 gene DOID:11054 urinary bladder cancer severity ISO RGD:736488 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:16739882|REF_RGD_ID:2289267 8764969 Ccne1 cyclin E1 gene DOID:1612 breast cancer disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD PMID:17483245|REF_RGD_ID:2289231 8764969 Ccne1 cyclin E1 gene DOID:2237 hepatitis ISO RGD:736489 D RGD:9068941 20220728 RGD PMID:29551768|REF_RGD_ID:153297807 8764969 Ccne1 cyclin E1 gene DOID:3458 breast adenocarcinoma ISO RGD:736488 D RGD:9068941 20200609 RGD DNA:amplification PMID:18089785|REF_RGD_ID:2289225 8764969 Ccne1 cyclin E1 gene DOID:3571 liver cancer disease_progression ISO RGD:2294 D RGD:9068941 20220224 RGD protein:increased expression:liver (rat) PMID:11797828|REF_RGD_ID:151356973 8764969 Ccne1 cyclin E1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD PMID:11212263|REF_RGD_ID:13673913 8764969 Ccne1 cyclin E1 gene DOID:4001 ovarian carcinoma ISO RGD:2294 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:12713563|REF_RGD_ID:2289335 8764969 Ccne1 cyclin E1 gene DOID:4450 renal cell carcinoma ISO RGD:736488 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:17726548|REF_RGD_ID:2289228 8764969 Ccne1 cyclin E1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 8764969 Ccne1 cyclin E1 gene DOID:630 genetic disease ISO RGD:736488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764969 Ccne1 cyclin E1 gene DOID:684 hepatocellular carcinoma ISO RGD:2294 D RGD:9068941 20200609 RGD PMID:17196522|REF_RGD_ID:2289277 8764969 Ccne1 cyclin E1 gene DOID:684 hepatocellular carcinoma ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:22634754 8764969 Ccne1 cyclin E1 gene DOID:684 hepatocellular carcinoma ISO RGD:736489 D RGD:9068941 20220728 RGD PMID:29551768|REF_RGD_ID:153297807 8764969 Ccne1 cyclin E1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:736489 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 8764969 Ccne1 cyclin E1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736489 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:14968434|REF_RGD_ID:2289283 8764969 Ccne1 cyclin E1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736488 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18301453|REF_RGD_ID:2293574 8764969 Ccne1 cyclin E1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2294 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:16759516|REF_RGD_ID:2289281 8764969 Ccne1 cyclin E1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736488 D RGD:9068941 20200609 RGD associated with Carcinoma, Transitional Cell;protein:decreased expression PMID:16949911|REF_RGD_ID:2289266 8764969 Ccne1 cyclin E1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736488 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:11358847|REF_RGD_ID:2296041 8764969 Ccne1 cyclin E1 gene DOID:9000918 Disease Progression ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19385967 8764969 Ccne1 cyclin E1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736488 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma PMID:11212263|REF_RGD_ID:13673913 8764969 Ccne1 cyclin E1 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:736489 D RGD:9068941 20200609 RGD protein:altered processing PMID:17671189|REF_RGD_ID:2289229 8764969 Ccne1 cyclin E1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2294 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17825795|REF_RGD_ID:2289273 8764969 Ccne1 cyclin E1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:736489 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:14968434|REF_RGD_ID:2289283 8764969 Ccne1 cyclin E1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 8764969 Ccne1 cyclin E1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD protein:alternative forms, increased expression:ovary PMID:17647260|REF_RGD_ID:2296042 8764969 Ccne1 cyclin E1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16116079|REF_RGD_ID:2289287 8764969 Ccne1 cyclin E1 gene DOID:9002801 Recurrence ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19385967 8764969 Ccne1 cyclin E1 gene DOID:9002928 Colonic Neoplasms ISO RGD:2294 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon PMID:14614307|REF_RGD_ID:2289293 8764969 Ccne1 cyclin E1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736489 D RGD:9068941 20200609 RGD protein:increased expression:cervix, epithelial cell PMID:17308103|REF_RGD_ID:2289265 8764969 Ccne1 cyclin E1 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:736488 D RGD:9068941 20200609 RGD protein:increased expression:cervix PMID:16538218|REF_RGD_ID:2289268 8764969 Ccne1 cyclin E1 gene DOID:9004009 Reperfusion Injury ISO RGD:2294 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17584601|REF_RGD_ID:2289275 8764969 Ccne1 cyclin E1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736488 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17483252|REF_RGD_ID:2289230 8764969 Ccne1 cyclin E1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2294 D RGD:9068941 20200609 RGD PMID:12602925|REF_RGD_ID:2289337 8764969 Ccne1 cyclin E1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2294 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland PMID:12649181|REF_RGD_ID:2289336 8764969 Ccne1 cyclin E1 gene DOID:9007170 Bowen's Disease ISO RGD:736488 D RGD:9068941 20200609 RGD associated with Vulvar Neoplasms;mRNA:increased expression:vulva PMID:17471573|REF_RGD_ID:2289255 8764969 Ccne1 cyclin E1 gene DOID:9008939 Breast Neoplasms ISO RGD:736488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19385967|PMID:23624423 8764986 Wipf2 WAS/WASL interacting protein family member 2 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1603178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8764986 Wipf2 WAS/WASL interacting protein family member 2 gene DOID:630 genetic disease ISO RGD:1603178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764998 Tesk1 testis associated actin remodelling kinase 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8764998 Tesk1 testis associated actin remodelling kinase 1 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:732889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8764998 Tesk1 testis associated actin remodelling kinase 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:732889 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8764998 Tesk1 testis associated actin remodelling kinase 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:732889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8764998 Tesk1 testis associated actin remodelling kinase 1 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:732889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8764998 Tesk1 testis associated actin remodelling kinase 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8764998 Tesk1 testis associated actin remodelling kinase 1 gene DOID:630 genetic disease ISO RGD:732889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8764998 Tesk1 testis associated actin remodelling kinase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732889 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8764998 Tesk1 testis associated actin remodelling kinase 1 gene DOID:9870 galactosemia ISO RGD:732889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:0050073 invasive aspergillosis ISO RGD:733265 D RGD:9068941 20200609 RGD PMID:24054721|REF_RGD_ID:10450528 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:0050855 renal fibrosis ISO RGD:1350492 D RGD:9068941 20200609 RGD associated with liver transplant;protein:increased expression:kidney: PMID:22568654|REF_RGD_ID:11040697 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:0050855 renal fibrosis treatment ISO RGD:620574 D RGD:9068941 20200609 RGD PMID:22568654|REF_RGD_ID:11040697 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350492 D RGD:7240710 20180130 OMIM 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350492 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant PMID:10068684|PMID:10089913|PMID:10627478|PMID:10828042|PMID:10914676|PMID:10980575|PMID:11112388|PMID:11162142|PMID:11413138|PMID:11435314|PMID:11462241|PMID:11566256|PMID:11700292|PMID:11997083|PMID:12094329|PMID:12139950|PMID:12589359|PMID:1347621|PMID:1438069|PMID:14697745|PMID:15082894|PMID:1520880|PMID:15338276|PMID:15454837|PMID:16199547|PMID:1710153|PMID:1719419|PMID:17576211|PMID:17576681|PMID:18322777|PMID:18509647|PMID:18546332|PMID:18708296|PMID:18762975|PMID:18773283|PMID:19410294|PMID:19483051|PMID:20228266|PMID:20540864|PMID:20724480|PMID:20729109|PMID:21190454|PMID:21604087|PMID:21659519|PMID:22125116|PMID:22540226|PMID:22562447|PMID:22876374|PMID:22924696|PMID:22924737|PMID:22929960|PMID:23193493|PMID:23859418|PMID:23910690|PMID:23956436|PMID:24276928|PMID:24943880|PMID:24999735|PMID:2523713|PMID:25252997|PMID:25525159|PMID:2556453|PMID:25666294|PMID:25741868|PMID:26185101|PMID:26453586|PMID:26936803|PMID:27701760|PMID:27853979|PMID:27966181|PMID:27980538|PMID:28168067|PMID:28251166|PMID:2838754|PMID:28492532|PMID:29018441|PMID:29560547|PMID:29702544|PMID:30237823|PMID:30470980|PMID:30506560|PMID:30633606|PMID:30716179|PMID:31456102|PMID:31813112|PMID:32040803|PMID:33629196|PMID:33717137|PMID:33963972|PMID:34462840|PMID:34680870|PMID:35140711|PMID:35729272|PMID:35874699|PMID:3600768|PMID:7713925|PMID:7907031|PMID:8070813|PMID:8101486|PMID:8182143|PMID:8634410|PMID:8655140|PMID:8900212|PMID:8916969|PMID:8961628|PMID:9454688|PMID:9536098|PMID:9585602|PMID:9667376|PMID:9774399|PMID:9794433|PMID:9856476 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:0070195 X-linked chronic granulomatous disease treatment ISO RGD:1350492 D RGD:9068941 20200609 RGD PMID:12804147|REF_RGD_ID:11040567 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:0112000 immunodeficiency 34 ISO RGD:1350492 D RGD:7240710 20180130 OMIM 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:0112000 immunodeficiency 34 ISO RGD:1350492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency PMID:10089913|PMID:10914676|PMID:11435314|PMID:12139950|PMID:17293536|PMID:17576681|PMID:18546332|PMID:19483051|PMID:21278736|PMID:23193493|PMID:24276928|PMID:25741868|PMID:28492532|PMID:29560547|PMID:30470980|PMID:8634410|PMID:8655140|PMID:8900212|PMID:8916969|PMID:9536098|PMID:9585602 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:10763 hypertension ISO RGD:1350492 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16685210|PMID:21593737|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:10763 hypertension ISO RGD:620574 D RGD:9068941 20200609 RGD Protein:increased expression:brain PMID:12472782|REF_RGD_ID:1599685 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:10825 essential hypertension ISO RGD:1350492 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:12849 autistic disorder ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:3265 chronic granulomatous disease ISO RGD:1350492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:1347621|PMID:17293536|PMID:18546332|PMID:20729109|PMID:21190454|PMID:21278736|PMID:22924737|PMID:23859418|PMID:24276928|PMID:25741868|PMID:28492532|PMID:29560547|PMID:8634410|PMID:9585602 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:3454 brain infarction ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19417757 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:446 primary hyperaldosteronism ISO RGD:620574 D RGD:9068941 20200609 RGD Protein:increased expression:heart ventricle PMID:16373592|REF_RGD_ID:1599681 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:557 kidney disease ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:576 proteinuria ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:5844 myocardial infarction ISO RGD:620574 D RGD:9068941 20200609 RGD mRNA:increase expression:ventricle myocardium PMID:11243862|REF_RGD_ID:1599690 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:6000 congestive heart failure ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:630 genetic disease ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1320378|PMID:20724480|PMID:20729109 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:6432 pulmonary hypertension ISO RGD:733265 D RGD:9068941 20200609 RGD associated with Anoxia PMID:18952568|REF_RGD_ID:4762683 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:6432 pulmonary hypertension treatment ISO RGD:620574 D RGD:9068941 20200609 RGD PMID:18424632|REF_RGD_ID:4773907 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:7148 rheumatoid arthritis ISO RGD:1350492 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:24313545 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:783 end stage renal disease ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:783 end stage renal disease ISO RGD:620574 D RGD:9068941 20200609 RGD PMID:15550752|REF_RGD_ID:1599682 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9000039 Spinal Cord Injuries ISO RGD:733265 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:microglia: PMID:20679217|REF_RGD_ID:11040629 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620574 D RGD:9068941 20200609 RGD Protein:increased expression:cerebral cortex PMID:16671452|REF_RGD_ID:1599680 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620574 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral vessel: PMID:12142572|REF_RGD_ID:11040582 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9002211 Hyperalgesia ISO RGD:733265 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries; PMID:20679217|REF_RGD_ID:11040629 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9002514 Neointima treatment ISO RGD:620574 D RGD:9068941 20200609 RGD PMID:20485380|REF_RGD_ID:11040762 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9004009 Reperfusion Injury ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19193722 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9004009 Reperfusion Injury ISO RGD:620574 D RGD:9068941 20200609 RGD Protein:increase expression:brain PMID:16766636|REF_RGD_ID:1599677 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9005372 Inflammation ISO RGD:733265 D RGD:9068941 20200609 RGD PMID:19234224|REF_RGD_ID:11040576 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19478208 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620574 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:11157681|REF_RGD_ID:1599691 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620574 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex;associated with reperfusion injury PMID:15148062|REF_RGD_ID:1599683 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19207477 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1350492 D RGD:9068941 20210115 RGD mRNA,protein:increased expression:mucosa of stomach (human) PMID:27048452|REF_RGD_ID:40924640 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9074 systemic lupus erythematosus ISO RGD:733265 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9351 diabetes mellitus ISO RGD:1350492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 8765013 LOC102012042 cytochrome b-245 heavy chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350492 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8765030 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1606941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8765030 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1606941 D RGD:7240710 20180130 OMIM 8765030 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1606941 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:16199547|PMID:17576681|PMID:23462291|PMID:24033266|PMID:25741868|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726|PMID:28803783|PMID:28913435|PMID:29353736|PMID:30258207|PMID:32180488|PMID:32348839|PMID:34374989|PMID:34906502|PMID:37903659|PMID:9536098 8765030 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:0110819 hereditary spastic paraplegia 74 ISO RGD:1606941 D RGD:7240710 20180130 OMIM 8765030 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:0110819 hereditary spastic paraplegia 74 ISO RGD:1606941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive PMID:17576681|PMID:23462291|PMID:25609768|PMID:25741868|PMID:25971455|PMID:27785568|PMID:28492532|PMID:28671726|PMID:30258207|PMID:34906502|PMID:9536098 8765030 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:10907 microcephaly ISO RGD:1606941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8765030 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:1540 parathyroid carcinoma ISO RGD:1606941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8765030 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:607 paraplegia ISO RGD:1606941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8765030 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:630 genetic disease ISO RGD:1606941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27785568|PMID:28492532|PMID:28671726 8765030 Iba57 iron-sulfur cluster assembly factor IBA57 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8765042 Scoc short coiled-coil protein gene DOID:630 genetic disease ISO RGD:1323537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765053 Zscan5b zinc finger and SCAN domain containing 5B gene DOID:630 genetic disease ISO RGD:2293895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765069 Unc5c unc-5 netrin receptor C gene DOID:4450 renal cell carcinoma ISO RGD:1347353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21600761 8765069 Unc5c unc-5 netrin receptor C gene DOID:630 genetic disease ISO RGD:1347353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765089 Rhex regulator of hemoglobinization and erythroid cell expansion gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8765089 Rhex regulator of hemoglobinization and erythroid cell expansion gene DOID:12849 autistic disorder ISO RGD:1606860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8765089 Rhex regulator of hemoglobinization and erythroid cell expansion gene DOID:1540 parathyroid carcinoma ISO RGD:1606860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8765089 Rhex regulator of hemoglobinization and erythroid cell expansion gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606860 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8765089 Rhex regulator of hemoglobinization and erythroid cell expansion gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8765103 Golga3 golgin A3 gene DOID:630 genetic disease ISO RGD:1313187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765103 Golga3 golgin A3 gene DOID:9256 colorectal cancer ISO RGD:1313187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 8765133 Shroom4 shroom family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8765133 Shroom4 shroom family member 4 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8765133 Shroom4 shroom family member 4 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8765133 Shroom4 shroom family member 4 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8765133 Shroom4 shroom family member 4 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8765133 Shroom4 shroom family member 4 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1606521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:12673656|PMID:16249884|PMID:18414213|PMID:23757202|PMID:23871722|PMID:25670966|PMID:25741868|PMID:26740508|PMID:36209347 8765133 Shroom4 shroom family member 4 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1606521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8765133 Shroom4 shroom family member 4 gene DOID:1059 intellectual disability ISO RGD:1606521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868 8765133 Shroom4 shroom family member 4 gene DOID:12849 autistic disorder ISO RGD:1606521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8765133 Shroom4 shroom family member 4 gene DOID:630 genetic disease ISO RGD:1606521 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23757202|PMID:25741868|PMID:28492532 8765153 Spdef SAM pointed domain containing ETS transcription factor gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1318473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8765153 Spdef SAM pointed domain containing ETS transcription factor gene DOID:2394 ovarian cancer disease_progression ISO RGD:1318473 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ovary PMID:18567002|REF_RGD_ID:2298935 8765153 Spdef SAM pointed domain containing ETS transcription factor gene DOID:630 genetic disease ISO RGD:1318473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765153 Spdef SAM pointed domain containing ETS transcription factor gene DOID:9002762 Ovarian Neoplasms ISO RGD:1318473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18567002 8765186 Stxbp6 syntaxin binding protein 6 gene DOID:12849 autistic disorder ISO RGD:1314544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071347 8765186 Stxbp6 syntaxin binding protein 6 gene DOID:630 genetic disease ISO RGD:1314544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765186 Stxbp6 syntaxin binding protein 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314544 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8765195 Igsf11 immunoglobulin superfamily member 11 gene DOID:630 genetic disease ISO RGD:1318715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765215 Tcp11 t-complex 11 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8765215 Tcp11 t-complex 11 gene DOID:630 genetic disease ISO RGD:1351114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765235 Dbnl drebrin like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8765235 Dbnl drebrin like gene DOID:630 genetic disease ISO RGD:1606301 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8765235 Dbnl drebrin like gene DOID:9000884 Rhabdomyolysis ISO RGD:1606301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 8765235 Dbnl drebrin like gene DOID:9005787 Dimauro Disease ISO RGD:1606301 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dimauro disease | ClinVar Annotator: match by term: GSD X | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency PMID:10545043|PMID:16881065|PMID:17576681|PMID:18852891|PMID:19273759|PMID:19322572|PMID:19783439|PMID:21444020|PMID:22995991|PMID:23169535|PMID:23335027|PMID:25741868|PMID:26502762|PMID:27612597|PMID:28492532|PMID:28944235|PMID:2987758|PMID:30310767|PMID:33782433|PMID:34237446|PMID:6308514|PMID:8447317|PMID:9536098 8765260 Hspa14 heat shock protein family A (Hsp70) member 14 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:38549391 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8765260 Hspa14 heat shock protein family A (Hsp70) member 14 gene DOID:403 mouth disease ISO RGD:38549391 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 8765260 Hspa14 heat shock protein family A (Hsp70) member 14 gene DOID:630 genetic disease ISO RGD:38549391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765279 Ube2o ubiquitin conjugating enzyme E2 O gene DOID:630 genetic disease ISO RGD:1606786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765304 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1320917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8765304 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1320917 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8765304 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:1059 intellectual disability ISO RGD:1320917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8765304 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1320917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8765304 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1320917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8765304 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1320917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8765304 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8765304 Ctdnep1 CTD nuclear envelope phosphatase 1 gene DOID:630 genetic disease ISO RGD:1320917 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765317 Polr1b RNA polymerase I subunit B gene DOID:0080792 Treacher Collins syndrome 4 ISO RGD:1348858 D RGD:7240710 20200722 OMIM 8765317 Polr1b RNA polymerase I subunit B gene DOID:0080792 Treacher Collins syndrome 4 ISO RGD:1348858 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 4 PMID:25741868|PMID:31649276 8765317 Polr1b RNA polymerase I subunit B gene DOID:2908 Treacher Collins syndrome ISO RGD:1348858 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome PMID:31649276 8765317 Polr1b RNA polymerase I subunit B gene DOID:630 genetic disease ISO RGD:1348858 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8765343 Itga2 integrin subunit alpha 2 gene DOID:0060573 von Willebrand's disease 1 no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:SNP: :807C>T (human) PMID:14652648|REF_RGD_ID:11530070 8765343 Itga2 integrin subunit alpha 2 gene DOID:0060573 von Willebrand's disease 1 severity ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:15226188|REF_RGD_ID:10766468 8765343 Itga2 integrin subunit alpha 2 gene DOID:0060574 von Willebrand's disease 2 severity ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:haplotype:promoter: PMID:16409463|REF_RGD_ID:10766469 8765343 Itga2 integrin subunit alpha 2 gene DOID:0060903 thrombosis ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:14563646|REF_RGD_ID:1582298 8765343 Itga2 integrin subunit alpha 2 gene DOID:0060903 thrombosis susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:snp:cds:c.807C>T (human) PMID:12412731|REF_RGD_ID:1582300 8765343 Itga2 integrin subunit alpha 2 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1553829 D RGD:9068941 20200609 RGD PMID:11489992|REF_RGD_ID:8693305 8765343 Itga2 integrin subunit alpha 2 gene DOID:0111045 platelet-type bleeding disorder 9 ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 PMID:19500323|PMID:22862885|PMID:23368983|PMID:25741868|PMID:28492532 8765343 Itga2 integrin subunit alpha 2 gene DOID:0111163 molybdenum cofactor deficiency type B ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B 8765343 Itga2 integrin subunit alpha 2 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency 8765343 Itga2 integrin subunit alpha 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:snp:cds:c.807C>T (rs1126643) (human) PMID:22948415|REF_RGD_ID:8686432 8765343 Itga2 integrin subunit alpha 2 gene DOID:11758 iron deficiency anemia ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:SNP: :807C>T (human) PMID:12225391|REF_RGD_ID:11530068 8765343 Itga2 integrin subunit alpha 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:12412731|REF_RGD_ID:1582300 8765343 Itga2 integrin subunit alpha 2 gene DOID:13514 venous tributary occlusion of retina no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:snp:cds:g.807C>T (human) PMID:16157382|REF_RGD_ID:1582301 8765343 Itga2 integrin subunit alpha 2 gene DOID:1588 thrombocytopenia ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Hantavirus Infections;DNA:SNP: :807C>T (rs1126643) (human) PMID:22133274|REF_RGD_ID:11530072 8765343 Itga2 integrin subunit alpha 2 gene DOID:1727 retinal vein occlusion ISO RGD:1348738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12928694 8765343 Itga2 integrin subunit alpha 2 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:snp, haplotype:cds:g.807C>T (human) PMID:12928694|REF_RGD_ID:8686430 8765343 Itga2 integrin subunit alpha 2 gene DOID:2219 Glanzmann's thrombasthenia severity ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:14687991|REF_RGD_ID:1582297 8765343 Itga2 integrin subunit alpha 2 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:11978651|REF_RGD_ID:1582304 8765343 Itga2 integrin subunit alpha 2 gene DOID:289 endometriosis ISO RGD:1348738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8765343 Itga2 integrin subunit alpha 2 gene DOID:3393 coronary artery disease no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:15227729|REF_RGD_ID:1582294 8765343 Itga2 integrin subunit alpha 2 gene DOID:3611 acute retinal necrosis syndrome ISO RGD:1553829 D RGD:9068941 20200609 RGD protein:increased expression:eye anterior segment, natural killer cell (mouse) PMID:19387084|REF_RGD_ID:8693207 8765343 Itga2 integrin subunit alpha 2 gene DOID:3891 placental insufficiency ISO RGD:621632 D RGD:9068941 20200609 RGD mRNA:decreased expression:placenta (rat) PMID:20621762|REF_RGD_ID:5147460 8765343 Itga2 integrin subunit alpha 2 gene DOID:552 pneumonia treatment ISO RGD:1553829 D RGD:9068941 20200609 RGD PMID:11207307|REF_RGD_ID:8693217 8765343 Itga2 integrin subunit alpha 2 gene DOID:5844 myocardial infarction ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:10194421|REF_RGD_ID:1581029 8765343 Itga2 integrin subunit alpha 2 gene DOID:5844 myocardial infarction no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:15227729|REF_RGD_ID:1582294 8765343 Itga2 integrin subunit alpha 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:16697311|REF_RGD_ID:1582296 8765343 Itga2 integrin subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1348738 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8765343 Itga2 integrin subunit alpha 2 gene DOID:8805 intermediate coronary syndrome susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:15104219|REF_RGD_ID:1582303 8765343 Itga2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human) PMID:21632096|REF_RGD_ID:8686431 8765343 Itga2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS8-1059T>C (human) PMID:18806884|REF_RGD_ID:2313281 8765343 Itga2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy severity ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; DNA:transition:cds:807C>T (human) PMID:12540964|REF_RGD_ID:2307419 8765343 Itga2 integrin subunit alpha 2 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human) PMID:23776381|REF_RGD_ID:7777103 8765343 Itga2 integrin subunit alpha 2 gene DOID:9000064 Cardiac Arrhythmias no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:10822074|REF_RGD_ID:1582305 8765343 Itga2 integrin subunit alpha 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1553829 D RGD:9068941 20200609 RGD PMID:16534417|REF_RGD_ID:11530069 8765343 Itga2 integrin subunit alpha 2 gene DOID:9000528 Coronary Disease no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:9684730|REF_RGD_ID:1582306 8765343 Itga2 integrin subunit alpha 2 gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:1348738 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:mesangial cell (human) PMID:8989742|REF_RGD_ID:2307420 8765343 Itga2 integrin subunit alpha 2 gene DOID:9002211 Hyperalgesia ISO RGD:1348738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18234883 8765343 Itga2 integrin subunit alpha 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1553829 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) PMID:19321657|REF_RGD_ID:2307421 8765343 Itga2 integrin subunit alpha 2 gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia PMID:23368983|PMID:25741868 8765343 Itga2 integrin subunit alpha 2 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:SNP: :807C>T (human) PMID:16525573|REF_RGD_ID:1582302 8765343 Itga2 integrin subunit alpha 2 gene DOID:9003871 Venous Thrombosis no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:16380674|REF_RGD_ID:1582295 8765343 Itga2 integrin subunit alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8765343 Itga2 integrin subunit alpha 2 gene DOID:9007096 Stroke no_association ISO RGD:1348738 D RGD:9068941 20200609 RGD PMID:12871362|REF_RGD_ID:1582299 8765343 Itga2 integrin subunit alpha 2 gene DOID:9007096 Stroke susceptibility ISO RGD:1348738 D RGD:9068941 20200609 RGD DNA:SNP::807C>T(human) PMID:25207168|REF_RGD_ID:13592606 8765343 Itga2 integrin subunit alpha 2 gene DOID:9007402 Gliosis ISO RGD:1348738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 8765343 Itga2 integrin subunit alpha 2 gene DOID:9007456 Female Infertility ISO RGD:1553829 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:natural killer cell (mouse) PMID:19146775|REF_RGD_ID:2307422 8765343 Itga2 integrin subunit alpha 2 gene DOID:9351 diabetes mellitus ISO RGD:1348738 D RGD:9068941 20200609 RGD protein:increased expression:monocyte (human) PMID:17466965|REF_RGD_ID:2307424 8765343 Itga2 integrin subunit alpha 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348738 D RGD:9068941 20200609 RGD protein:increased expression:platelet (human) PMID:15025679|REF_RGD_ID:2307425 8765343 Itga2 integrin subunit alpha 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1553829 D RGD:9068941 20200609 RGD protein:altered expression:thymocyte (mouse) PMID:18567821|REF_RGD_ID:2307423 8765380 Dmrta2 DMRT like family A2 gene DOID:630 genetic disease ISO RGD:1343593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8765388 Tesmin testis expressed metallothionein like protein gene DOID:1059 intellectual disability ISO RGD:1320315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8765388 Tesmin testis expressed metallothionein like protein gene DOID:630 genetic disease ISO RGD:1320315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765388 Tesmin testis expressed metallothionein like protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1320315 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8765388 Tesmin testis expressed metallothionein like protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1320315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8765419 Ptar1 protein prenyltransferase alpha subunit repeat containing 1 gene DOID:630 genetic disease ISO RGD:1313649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765433 Cebpz CCAAT enhancer binding protein zeta gene DOID:0080690 RASopathy ISO RGD:1312755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8765433 Cebpz CCAAT enhancer binding protein zeta gene DOID:630 genetic disease ISO RGD:1312755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765460 Rnf2 ring finger protein 2 gene DOID:0070416 Luo-Schoch-Yamamoto syndrome ISO RGD:1313548 D RGD:7240710 20211027 OMIM 8765460 Rnf2 ring finger protein 2 gene DOID:0070416 Luo-Schoch-Yamamoto syndrome ISO RGD:1313548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Luo-Schoch-Yamamoto syndrome | ClinVar Annotator: match by term: RNF2-associated neurodevelopmental condition PMID:25741868|PMID:33864376 8765460 Rnf2 ring finger protein 2 gene DOID:0080016 spina bifida ISO RGD:1305491 D RGD:9068941 20200609 RGD PMID:20515739|REF_RGD_ID:9491842 8765460 Rnf2 ring finger protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8765460 Rnf2 ring finger protein 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1313548 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19585519|REF_RGD_ID:9491843 8765460 Rnf2 ring finger protein 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1313549 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19585519|REF_RGD_ID:9491843 8765460 Rnf2 ring finger protein 2 gene DOID:630 genetic disease ISO RGD:1313548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765460 Rnf2 ring finger protein 2 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:1305491 D RGD:9068941 20200609 RGD PMID:20740046|REF_RGD_ID:9491844 8765460 Rnf2 ring finger protein 2 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1313548 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19585519|REF_RGD_ID:9491843 8765460 Rnf2 ring finger protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8765483 Mef2b myocyte enhancer factor 2B gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1351770 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 8765483 Mef2b myocyte enhancer factor 2B gene DOID:630 genetic disease ISO RGD:1351770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765483 Mef2b myocyte enhancer factor 2B gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1351770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8765495 Hcfc1r1 host cell factor C1 regulator 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8765495 Hcfc1r1 host cell factor C1 regulator 1 gene DOID:1826 epilepsy ISO RGD:1351730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8765495 Hcfc1r1 host cell factor C1 regulator 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351730 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8765495 Hcfc1r1 host cell factor C1 regulator 1 gene DOID:630 genetic disease ISO RGD:1351730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765502 Enoph1 enolase-phosphatase 1 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1603616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8765502 Enoph1 enolase-phosphatase 1 gene DOID:10316 pneumoconiosis ISO RGD:1603616 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8765502 Enoph1 enolase-phosphatase 1 gene DOID:630 genetic disease ISO RGD:1603616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765517 Etv5 ETS variant transcription factor 5 gene DOID:2661 myoepithelioma ISO RGD:1320007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8765517 Etv5 ETS variant transcription factor 5 gene DOID:630 genetic disease ISO RGD:1320007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765517 Etv5 ETS variant transcription factor 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 8765517 Etv5 ETS variant transcription factor 5 gene DOID:9008192 Neoplastic Processes ISO RGD:1320007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 8765535 Kif15 kinesin family member 15 gene DOID:0080600 COVID-19 ISO RGD:1351410 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8765535 Kif15 kinesin family member 15 gene DOID:2986 IgA glomerulonephritis ISO RGD:1351410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8765535 Kif15 kinesin family member 15 gene DOID:3770 pulmonary fibrosis ISO RGD:1351410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:35417304 8765535 Kif15 kinesin family member 15 gene DOID:630 genetic disease ISO RGD:1351410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765535 Kif15 kinesin family member 15 gene DOID:684 hepatocellular carcinoma ISO RGD:1351410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8765535 Kif15 kinesin family member 15 gene DOID:9000152 Braddock-Carey Syndrome 2 ISO RGD:1351410 D RGD:7240710 20220810 OMIM 8765535 Kif15 kinesin family member 15 gene DOID:9000152 Braddock-Carey Syndrome 2 ISO RGD:1351410 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Braddock-carey syndrome 2 PMID:28150392 8765574 Adat2 adenosine deaminase tRNA specific 2 gene DOID:630 genetic disease ISO RGD:1320091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765584 Klhl17 kelch like family member 17 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8765584 Klhl17 kelch like family member 17 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8765584 Klhl17 kelch like family member 17 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8765584 Klhl17 kelch like family member 17 gene DOID:0111934 immunodeficiency 38 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8765584 Klhl17 kelch like family member 17 gene DOID:0111935 immunodeficiency 16 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8765584 Klhl17 kelch like family member 17 gene DOID:630 genetic disease ISO RGD:1348319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765584 Klhl17 kelch like family member 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8765584 Klhl17 kelch like family member 17 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1348319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8765584 Klhl17 kelch like family member 17 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1348319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8765624 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1315023 D RGD:9068941 20220825 MouseDO 8765624 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:0081212 autosomal recessive intellectual developmental disorder 48 ISO RGD:1315022 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome PMID:25741868 8765624 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:0081220 autosomal recessive intellectual developmental disorder 58 ISO RGD:1315022 D RGD:7240710 20190315 OMIM 8765624 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:0081220 autosomal recessive intellectual developmental disorder 58 ISO RGD:1315022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ELP2-Related Disorders | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58 PMID:21937992|PMID:25356970|PMID:25741868|PMID:25847581|PMID:28492532|PMID:28726809|PMID:32573669|PMID:33393008|PMID:33510603|PMID:33976153|PMID:34653680 8765624 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1315022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound PMID:25741868 8765624 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1315022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound PMID:21937992|PMID:25356970|PMID:25741868|PMID:25847581|PMID:28492532|PMID:28726809|PMID:32573669|PMID:33393008|PMID:33510603|PMID:33976153|PMID:34653680 8765624 Elp2 elongator acetyltransferase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1315022 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21937992|PMID:25741868|PMID:25847581|PMID:33976153 8765662 Xpo6 exportin 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8765662 Xpo6 exportin 6 gene DOID:303 substance-related disorder ISO RGD:1322976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8765662 Xpo6 exportin 6 gene DOID:630 genetic disease ISO RGD:1322976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:0060041 autism spectrum disorder ISO RGD:735711 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:0080074 neural tube defect ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20641098 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27565560 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:10783 methemoglobinemia ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12030840 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:13580 cholestasis ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27565560 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:1380 endometrial cancer ISO RGD:735711 D RGD:9068941 20200609 RGD DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002) PMID:18497059|REF_RGD_ID:2301045 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:1596 depressive disorder ISO RGD:2459 D RGD:9068941 20200609 RGD PMID:20595028|REF_RGD_ID:4892242 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:1612 breast cancer ISO RGD:735711 D RGD:9068941 20200609 RGD DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.0000005) PMID:18497059|REF_RGD_ID:2301045 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:1749 squamous cell carcinoma ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22072123 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:2529 splenic disease ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:2717 Bloom syndrome ISO RGD:735711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:3021 acute kidney failure treatment ISO RGD:10438 D RGD:9068941 20200609 RGD PMID:18495746|PMID:23981375|REF_RGD_ID:7257727|REF_RGD_ID:7257735 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20797314 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:735711 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-3860G>A (human) PMID:20080081|REF_RGD_ID:4293707 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:3132 porphyria cutanea tarda ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11153915 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:3132 porphyria cutanea tarda ISO RGD:735711 D RGD:9068941 20200609 RGD PMID:20957336|REF_RGD_ID:11576316 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:409 liver disease ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12969438 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:5082 liver cirrhosis ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27565560 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:5419 schizophrenia ISO RGD:735711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:6000 congestive heart failure treatment ISO RGD:2459 D RGD:9068941 20231109 RGD PMID:34958945|REF_RGD_ID:401900155 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:630 genetic disease ISO RGD:735711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:684 hepatocellular carcinoma ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9000310 Lung Injury ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25703676 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9001312 Tardive Dyskinesia treatment ISO RGD:735711 D RGD:9068941 20200609 RGD associated with schizophrenia PMID:10889552|REF_RGD_ID:1358545 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376689|PMID:21147764 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9002720 Splenomegaly ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445756 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9004462 Atrophy ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9004484 Sepsis ISO RGD:2459 D RGD:9068941 20200609 RGD PMID:15665729|PMID:18360687|REF_RGD_ID:2303376|REF_RGD_ID:5147745 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9004898 Jaundice ISO RGD:2459 D RGD:9068941 20200609 RGD PMID:8502229|REF_RGD_ID:11576308 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9004898 Jaundice ISO RGD:2459 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:18442205|REF_RGD_ID:2303375 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9005172 Lung Neoplasms ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22072123 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9005369 Hepatomegaly ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445756 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9006257 Growth Disorders ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9006575 Vitamin E Deficiency treatment ISO RGD:2459 D RGD:9068941 20231109 RGD associated with nitrate tolerance PMID:16520233|REF_RGD_ID:401900296 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445756 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28762043 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9007639 Metabolic Side Effects of Drugs and Substances ISO RGD:2459 D RGD:9068941 20231116 RGD Associated with incense smoke exposure;mRNA:increased expression:heart (rat) PMID:25687613|REF_RGD_ID:401900684 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9007639 Metabolic Side Effects of Drugs and Substances ISO RGD:2459 D RGD:9068941 20231116 RGD associated with nitrate tolerance; protein:decreased expression:thoracic aorta (rat) PMID:12688525|REF_RGD_ID:401900656 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9007639 Metabolic Side Effects of Drugs and Substances treatment ISO RGD:2459 D RGD:9068941 20231109 RGD associated with nitrate tolerance PMID:16520233|REF_RGD_ID:401900296 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9007703 Phenacetin O-Deethylase, Deficiency of ISO RGD:12053109 D RGD:9068941 20230824 OMIA Metabolizer of a cognitive enhancer PMID:14744947|PMID:15564884|PMID:15742977|PMID:16473917|PMID:16882764|PMID:37144920|PMID:37317989|PMID:37582787 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2459 D RGD:9068941 20230824 RGD PMID:22079846|REF_RGD_ID:401794136 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21081473 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9008691 Liver Injury ISO RGD:2459 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:26590097|REF_RGD_ID:11576319 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9256 colorectal cancer ISO RGD:735711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22244987 8765697 LOC102010322 cytochrome P450 1A2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 8765759 Sephs2 selenophosphate synthetase 2 gene DOID:0050860 colorectal adenoma ISO RGD:1318823 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 8765759 Sephs2 selenophosphate synthetase 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1318823 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 8765759 Sephs2 selenophosphate synthetase 2 gene DOID:630 genetic disease ISO RGD:1318823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765764 Cdc42bpb CDC42 binding protein kinase beta gene DOID:0060041 autism spectrum disorder ISO RGD:1351337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:32031333 8765764 Cdc42bpb CDC42 binding protein kinase beta gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1351337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 8765764 Cdc42bpb CDC42 binding protein kinase beta gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8765764 Cdc42bpb CDC42 binding protein kinase beta gene DOID:630 genetic disease ISO RGD:1351337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8765764 Cdc42bpb CDC42 binding protein kinase beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDC42BPB-related neurodevelopmental syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32031333 8765764 Cdc42bpb CDC42 binding protein kinase beta gene DOID:9007606 CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME ISO RGD:1351337 D RGD:7240710 20220615 OMIM 8765764 Cdc42bpb CDC42 binding protein kinase beta gene DOID:9007606 CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME ISO RGD:1351337 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Chilton-Okur-Chung neurodevelopmental syndrome PMID:25741868|PMID:32031333 8765802 Slbp stem-loop histone mRNA binding protein gene DOID:12270 coloboma ISO RGD:1350910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30695021 8765802 Slbp stem-loop histone mRNA binding protein gene DOID:1856 cherubism ISO RGD:1350910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8765802 Slbp stem-loop histone mRNA binding protein gene DOID:5723 optic atrophy ISO RGD:1350910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30695021 8765802 Slbp stem-loop histone mRNA binding protein gene DOID:630 genetic disease ISO RGD:1350910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765802 Slbp stem-loop histone mRNA binding protein gene DOID:9006597 Retinal Dysplasia ISO RGD:1350910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30695021 8765822 Snap47 synaptosome associated protein 47 gene DOID:1540 parathyroid carcinoma ISO RGD:1601832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8765822 Snap47 synaptosome associated protein 47 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1601832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:34664776 8765822 Snap47 synaptosome associated protein 47 gene DOID:630 genetic disease ISO RGD:1601832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765822 Snap47 synaptosome associated protein 47 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8765834 Gca grancalcin gene DOID:12849 autistic disorder ISO RGD:1315291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 8765834 Gca grancalcin gene DOID:630 genetic disease ISO RGD:1315291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765862 Znf251 zinc finger protein 251 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1322438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 8765862 Znf251 zinc finger protein 251 gene DOID:630 genetic disease ISO RGD:1322438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765869 Ap1g2 adaptor related protein complex 1 subunit gamma 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8765869 Ap1g2 adaptor related protein complex 1 subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1313902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765869 Ap1g2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313902 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8765869 Ap1g2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313902 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8765869 Ap1g2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1313902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8765869 Ap1g2 adaptor related protein complex 1 subunit gamma 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1313902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8765904 Sik2 salt inducible kinase 2 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1346987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8765904 Sik2 salt inducible kinase 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1346987 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8765904 Sik2 salt inducible kinase 2 gene DOID:1059 intellectual disability ISO RGD:1346987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8765904 Sik2 salt inducible kinase 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1346987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8765904 Sik2 salt inducible kinase 2 gene DOID:630 genetic disease ISO RGD:1346987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765904 Sik2 salt inducible kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346987 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34491613 8765904 Sik2 salt inducible kinase 2 gene DOID:9000918 Disease Progression ISO RGD:1346987 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34491613 8765904 Sik2 salt inducible kinase 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8765904 Sik2 salt inducible kinase 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1346987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:0060041 autism spectrum disorder ISO RGD:730900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:0080472 developmental and epileptic encephalopathy 91 ISO RGD:730900 D RGD:7240710 20190315 OMIM 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:0080472 developmental and epileptic encephalopathy 91 ISO RGD:730900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 1 PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30904718|PMID:32238909|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402|PMID:9536098 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:12858 Huntington's disease ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:19733666|REF_RGD_ID:6483320 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:730900 D RGD:9068941 20200609 RGD PMID:26436650|REF_RGD_ID:13515117 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:1826 epilepsy ISO RGD:730900 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25262651|PMID:25741868|PMID:28942967|PMID:29432562 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:2519 testicular disease ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785681 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:2519 testicular disease treatment ISO RGD:11134 D RGD:9068941 20200609 RGD associated with Cadmium Poisoning PMID:17785681|REF_RGD_ID:13515119 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:3633 beta-mannosidosis ISO RGD:730900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:4001 ovarian carcinoma ISO RGD:730900 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:730900 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:4989 pancreatitis ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22952646 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:5419 schizophrenia ISO RGD:730900 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15820226|REF_RGD_ID:13515121 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:557 kidney disease ISO RGD:3382 D RGD:9068941 20200609 RGD PMID:27009276|REF_RGD_ID:11537650 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:730900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25262651|PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:893 Wilson disease ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9000998 Brain Injuries ISO RGD:3382 D RGD:9068941 20200609 RGD protein: :hippocampus PMID:19751097|REF_RGD_ID:6483311 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9000998 Brain Injuries ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14499481 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9001596 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development ISO RGD:730900 D RGD:7240710 20190315 OMIM 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9001596 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development ISO RGD:730900 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition PMID:25741868|PMID:28492532|PMID:29432562|PMID:30904718|PMID:33963760 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9001793 Generalized Epilepsy ISO RGD:730900 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9003936 Cardiomegaly ISO RGD:11134 D RGD:9068941 20240104 RGD PMID:12515860|PMID:21273244|REF_RGD_ID:401940178|REF_RGD_ID:734902 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9004009 Reperfusion Injury ISO RGD:3382 D RGD:9068941 20200609 RGD PMID:14762344|REF_RGD_ID:1580702 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:15336966|PMID:9568714|REF_RGD_ID:1579951|REF_RGD_ID:1579956 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344631 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9005141 Ventricular Tachycardia ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:15537502|REF_RGD_ID:1580701 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:11134 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3382 D RGD:9068941 20200609 RGD PMID:16799071|REF_RGD_ID:1580700 8765934 Ppp3ca protein phosphatase 3 catalytic subunit alpha gene DOID:9008582 Developmental Disease ISO RGD:730900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8765959 Mycbp MYC binding protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1315945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8765959 Mycbp MYC binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8765959 Mycbp MYC binding protein gene DOID:630 genetic disease ISO RGD:1315945 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733138 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:0060180 colitis ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:21330446|REF_RGD_ID:5490987 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:0060180 colitis ISO RGD:70547 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:intestine, myenteric nerve plexus PMID:17586086|REF_RGD_ID:5131259 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:733138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:10763 hypertension ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10742107 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:1596 depressive disorder ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:20860876|REF_RGD_ID:5147490 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:2030 anxiety disorder ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10742108 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:2841 asthma ISO RGD:733138 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18408560|REF_RGD_ID:5130938 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:326 ischemia ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:19429103|REF_RGD_ID:5130953 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:3877 functional colonic disease ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:20096320|REF_RGD_ID:5130948 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:4483 rhinitis ISO RGD:733138 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity epithelium PMID:17597629|REF_RGD_ID:5130940 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:552 pneumonia ISO RGD:733139 D RGD:9068941 20200609 RGD PMID:16855006|REF_RGD_ID:5130933 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:630 genetic disease ISO RGD:733138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:767 muscular atrophy ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:21235761|REF_RGD_ID:5130936 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:850 lung disease ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16855006 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9001109 Anorexia ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:17050037|REF_RGD_ID:5131264 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9001109 Anorexia ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17627984 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:733139 D RGD:9068941 20200609 RGD PMID:21774994|REF_RGD_ID:5147472 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:70547 D RGD:9068941 20200609 RGD mRNA:decreased expression:left ventricle (rat) PMID:11087261|REF_RGD_ID:1642796 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9005372 Inflammation ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16855006 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17437087 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9006024 Hypotension ISO RGD:70547 D RGD:9068941 20200609 RGD PMID:11036160|REF_RGD_ID:1581302 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9007877 Fetal Hypoxia ISO RGD:70547 D RGD:9068941 20200609 RGD protein:decreased expression:paraventricular nucleus of hypothalamus (rat) PMID:19409200|REF_RGD_ID:5491006 8765976 Crhr2 corticotropin releasing hormone receptor 2 gene DOID:9778 irritable bowel syndrome ISO RGD:70547 D RGD:9068941 20200609 RGD associated with Anxiety Disorders; protein:decreased expression:distal colon (rat) PMID:20096320|REF_RGD_ID:5130948 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:0050848 obstructive sleep apnea severity ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:faucial pillar, muscle (human) PMID:20847078|REF_RGD_ID:4891917 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:0060319 cardiac arrest ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:19756023|REF_RGD_ID:4889980 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:27639593|REF_RGD_ID:14995335 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:27639593|REF_RGD_ID:14995335 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:0080546 non-alcoholic fatty liver ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:27639593|REF_RGD_ID:14995335 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:27639593|REF_RGD_ID:14995335 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:0080600 COVID-19 severity ISO RGD:1604061 D RGD:9068941 20200618 RGD protein:increased expression:serum (human) PMID:32427582|REF_RGD_ID:30309200 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:0080821 exercise-induced bronchoconstriction ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (human) PMID:19996575|REF_RGD_ID:4892021 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:10247 pleurisy ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung (mouse) PMID:18672096|REF_RGD_ID:4890016 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:10534 stomach cancer disease_progression ISO RGD:1604061 D RGD:9068941 20220421 RGD mRNA:altered expression:stomach, tumor (human) PMID:29069277|REF_RGD_ID:151893464 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:10591 pre-eclampsia ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased secretion:serum (rat) PMID:19617880|REF_RGD_ID:2317272 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:10603 glucose intolerance ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16306328|REF_RGD_ID:2307103 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:10652 Alzheimer's disease ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebrum, blood vessels (human) PMID:18440671|REF_RGD_ID:4890025 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:10763 hypertension ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:15668187|REF_RGD_ID:2307105 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:11204 allergic conjunctivitis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:conjunctiva PMID:12682842|REF_RGD_ID:2307196 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:11446 sciatic neuropathy ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve (rat) PMID:19152028|REF_RGD_ID:4890004 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:12140 Chagas disease ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:20452453|REF_RGD_ID:4889906 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12126966 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:15770052|REF_RGD_ID:14995336 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:12351 alcoholic hepatitis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12586603 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:31258651|REF_RGD_ID:14995304 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:12375 bronchopneumonia ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:20350425|REF_RGD_ID:4892019 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:12574 posterior uveitis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:aqueous humor, vitreous body (rat) PMID:19232006|REF_RGD_ID:4889998 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69127 D RGD:9068941 20200609 RGD protein:altered expression:lung, T cell (mouse) PMID:19124761|REF_RGD_ID:4891880 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:13141 uveitis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjunctiva, ciliary body PMID:19104678|REF_RGD_ID:2306302 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (mouse) PMID:18717637|REF_RGD_ID:4891914 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:lung:bronchoalveolar lavage cell (human) PMID:10384061|REF_RGD_ID:4891436 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:13976 peptic esophagitis ISO RGD:69069 D RGD:9068941 20200609 RGD associated with Asthma;mRNA:increased expression:esophagus PMID:18222984|REF_RGD_ID:2307110 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:1790 malignant mesothelioma ISO RGD:1604061 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:1793 pancreatic cancer ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:19155524|REF_RGD_ID:2317567 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:1883 hepatitis C susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Intravenous Substance Abuse;DNA:haplotype: :rs2107538A,rs2280788G,rs2280789C (human) PMID:27304910|REF_RGD_ID:14401735 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:1936 atherosclerosis ameliorates ISO RGD:69127 D RGD:9068941 20230629 RGD PMID:19122657|REF_RGD_ID:329901820 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B disease_progression ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:19017985|REF_RGD_ID:14995327 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B disease_progression ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:30536991|REF_RGD_ID:14401739 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2043 hepatitis B susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-403G>A,-28C>G (human) PMID:22576913|PMID:23336202|REF_RGD_ID:14995330|REF_RGD_ID:14995331 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2048 autoimmune hepatitis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2349 arteriosclerosis ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16259780|REF_RGD_ID:2307165 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2349 arteriosclerosis ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:14656931|REF_RGD_ID:4890030 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2349 arteriosclerosis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:serum (mouse) PMID:19752857|REF_RGD_ID:4891452 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2377 multiple sclerosis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, frontal cortex (human) PMID:11091283|REF_RGD_ID:4890028 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2518 orchitis ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:11897701|REF_RGD_ID:704384 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2799 bronchiolitis obliterans ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:14611812|REF_RGD_ID:2307195 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2799 bronchiolitis obliterans ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:19840961|REF_RGD_ID:4889978 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2841 asthma ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8534483 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2841 asthma ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell PMID:18208670|REF_RGD_ID:2307112 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2841 asthma ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:lung, secretion (mouse) PMID:20092989|REF_RGD_ID:4891430 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2841 asthma susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:transition:5' utr:-403G>A (human) PMID:20430255|REF_RGD_ID:4891381 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:289 endometriosis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium (human) PMID:18595729|REF_RGD_ID:2307108 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2921 glomerulonephritis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10385480 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1604061 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69127 D RGD:9068941 20200619 RGD mRNA, protein: increased expression, altered expression:lung, brain (mouse) PMID:15356152|REF_RGD_ID:30309221 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1604061 D RGD:9068941 20200618 RGD Severe Acute Respiratory Syndrome; DNA:transversion:5' utr:-28C>G (human) PMID:19258635|REF_RGD_ID:4891448 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1604061 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:16195357|REF_RGD_ID:30309218 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:69127 D RGD:9068941 20200618 RGD mRNA:increased expression:lung (mouse) PMID:32365944|REF_RGD_ID:30309207 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1604061 D RGD:9068941 20200702 RGD PMID:15781938|PMID:15865221|REF_RGD_ID:30309220|REF_RGD_ID:33769580 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:69127 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2957 pulmonary tuberculosis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:15128813|REF_RGD_ID:4892112 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human) PMID:19335954|REF_RGD_ID:4891879 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:2988 antiphospholipid syndrome ISO RGD:1604061 D RGD:9068941 20230902 RGD protein:increased expression:plasma PMID:26283469|REF_RGD_ID:401794584 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:3008 invasive ductal carcinoma ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:breast, ductal carcinoma (human) PMID:18790652|REF_RGD_ID:4891911 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:3021 acute kidney failure ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:serum (mouse) PMID:19508392|REF_RGD_ID:4889990 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:3042 allergic contact dermatitis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:ear (mouse) PMID:15491423|REF_RGD_ID:1626251 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:3082 interstitial lung disease ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:20089076|REF_RGD_ID:4891431 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human) PMID:19703829|REF_RGD_ID:4891477 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:3310 atopic dermatitis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:lung, alveolar macrophage (human) PMID:19729668|REF_RGD_ID:4891476 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:3770 pulmonary fibrosis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17620002 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:3770 pulmonary fibrosis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20833968|REF_RGD_ID:4145112 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:17898087|REF_RGD_ID:2307059 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:4989 pancreatitis ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;DNA:polymorphism: :-403G>A (human) PMID:16614115|REF_RGD_ID:2317568 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:4989 pancreatitis ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:16843865|REF_RGD_ID:2307146 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:5082 liver cirrhosis severity ISO RGD:1604061 D RGD:9068941 20200609 RGD PMID:20978355|PMID:28011329|REF_RGD_ID:14995306|REF_RGD_ID:14995328 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:5082 liver cirrhosis severity ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:SNAP, haplotype: :rs11652536(human) PMID:20978355|REF_RGD_ID:14995328 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:5082 liver cirrhosis treatment ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:28011329|REF_RGD_ID:14995306 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve (mouse) PMID:19050296|REF_RGD_ID:4890012 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604061 D RGD:7240710 20230505 OMIM 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by PMID:10200305|PMID:12114533|PMID:12610055 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:5434 scrapie ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:22787236|REF_RGD_ID:13782158 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:557 kidney disease ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:15882261|REF_RGD_ID:2307176 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:5844 myocardial infarction ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:18954648|REF_RGD_ID:4890013 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:630 genetic disease ISO RGD:1604061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:6432 pulmonary hypertension ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:19932032|REF_RGD_ID:4891440 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-403G>A,-28C>G (human) PMID:22374185|REF_RGD_ID:14995333 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with alcoholic liver cirrhosis;DNA:SNP:promoter:-403G>A(human) PMID:21610221|REF_RGD_ID:14995338 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:28011329|REF_RGD_ID:14995306 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:783 end stage renal disease ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex (rat) PMID:19535570|REF_RGD_ID:4889989 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:809 cocaine abuse severity ISO RGD:1604061 D RGD:9068941 20230902 RGD PMID:21806491|REF_RGD_ID:401794583 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:lung:bronchoalveolar lavage cell (human) PMID:10384061|REF_RGD_ID:4891436 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:841 extrinsic allergic alveolitis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (mouse) PMID:16387809|REF_RGD_ID:4891434 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:850 lung disease ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17304115|REF_RGD_ID:2307141 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:8704 genital herpes ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:12502811|REF_RGD_ID:4890015 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:8947 diabetic retinopathy ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:8947 diabetic retinopathy severity ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16249511|REF_RGD_ID:2307104 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord segment (mouse) PMID:20478301|REF_RGD_ID:4889905 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9000641 Pain ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:11438578|REF_RGD_ID:2306307 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:69127 D RGD:9068941 20200609 RGD associated with Animal Mammary Neoplasms; PMID:15692764|REF_RGD_ID:14995455 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9000972 Fever ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:15066130|REF_RGD_ID:2307192 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001488 Human Influenza ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20656925|REF_RGD_ID:4145452 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001488 Human Influenza susceptibility ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:16208318|REF_RGD_ID:4892131 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:20978355|REF_RGD_ID:14995328 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:1322355 D RGD:9068941 20200609 RGD PMID:25617348|REF_RGD_ID:14995329 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:20978355|REF_RGD_ID:14995328 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:22574195|REF_RGD_ID:14995337 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002106 Pneumococcal Pneumonia susceptibility ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:16455992|REF_RGD_ID:4892130 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:28623253|REF_RGD_ID:14995305 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:28623253|REF_RGD_ID:14995305 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:urine PMID:18326229|REF_RGD_ID:2307063 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-28C>G PMID:12610055|REF_RGD_ID:2307107 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002211 Hyperalgesia ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:18656466|REF_RGD_ID:2303121 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002211 Hyperalgesia ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion (rat) PMID:18076762|REF_RGD_ID:4890034 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002457 Experimental Arthritis ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:9637726|REF_RGD_ID:4889940 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002457 Experimental Arthritis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:synovium, monocytes PMID:17052673|REF_RGD_ID:2307143 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:20400704|REF_RGD_ID:4891397 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:17666800|REF_RGD_ID:2307114 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:15833367|REF_RGD_ID:4890027 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002834 Herpesviridae Infections ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:18768196|REF_RGD_ID:4891912 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:15823807|REF_RGD_ID:2307177 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9003281 Spontaneous Abortions ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Pregnancy in Diabetics;protein:decreased expression:serum PMID:17924206|REF_RGD_ID:2307065 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9003671 Hypoventilation ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Obesity; protein:increased secretion:serum (human) PMID:19701463|REF_RGD_ID:4892041 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004009 Reperfusion Injury ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:gut PMID:15542513|REF_RGD_ID:2307184 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004009 Reperfusion Injury ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (mouse) PMID:19558673|REF_RGD_ID:4891479 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:15770052|REF_RGD_ID:14995336 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:SNP: :rs3817656(human) PMID:29703961|REF_RGD_ID:14995334 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-403G>A(human) PMID:12557141|REF_RGD_ID:14995332 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: : PMID:15368437|REF_RGD_ID:14995340 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004484 Sepsis ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:18290317|REF_RGD_ID:4890036 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18985009 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004590 Acute Liver Failure ISO RGD:1604061 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:liver PMID:12579535|REF_RGD_ID:14995451 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004659 Respiration Disorders ISO RGD:69127 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome; mRNA:increased expression:lung (mouse) PMID:19906920|REF_RGD_ID:4891446 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004912 Hyperoxaluria ISO RGD:1604061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9004912 Hyperoxaluria ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:renal tubule, epithelial cell (rat) PMID:16284884|REF_RGD_ID:2307164 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood vessel endothelial cell PMID:15710456|REF_RGD_ID:2307183 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9005372 Inflammation ISO RGD:69069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:subcutaneous tissue, granuloma (rat) PMID:17164972|REF_RGD_ID:2307142 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9005372 Inflammation ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (mouse) PMID:19486528|REF_RGD_ID:4891481 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9005930 Endotoxemia ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16215387|REF_RGD_ID:2307171 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:lung, secretion (human) PMID:18513272|REF_RGD_ID:4891916 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9006618 Liver Metastasis treatment ISO RGD:69127 D RGD:9068941 20200609 RGD associated with Animal Mammary Neoplasms; PMID:15692764|REF_RGD_ID:14995455 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9006646 Metabolic Syndrome ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:19905967|REF_RGD_ID:4889977 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:19005677|REF_RGD_ID:4891884 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-28C>G (human) PMID:19099677|REF_RGD_ID:4891881 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9007090 Experimental Seizures ISO RGD:69069 D RGD:9068941 20230128 RGD protein:increased expression:hippocampus, vasculature (rat) PMID:20940264|REF_RGD_ID:4889880 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9007244 Paramyxoviridae Infections ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus (human) PMID:20182399|REF_RGD_ID:4891406 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9007417 Pseudomonas Infections ISO RGD:69127 D RGD:9068941 20200609 RGD protein:increased expression:lung, secretion (mouse) PMID:20720199|REF_RGD_ID:4891951 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:69127 D RGD:9068941 20200702 RGD PMID:27175332|REF_RGD_ID:32733623 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:inferior turbinate, epithelium (human) PMID:20459697|REF_RGD_ID:4891379 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9008113 Tissue Adhesions ISO RGD:69069 D RGD:9068941 20200609 RGD PMID:18707039|REF_RGD_ID:4890014 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1604061 D RGD:9068941 20200609 RGD PMID:17711627|REF_RGD_ID:14995339 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9008939 Breast Neoplasms ISO RGD:69127 D RGD:9068941 20200609 RGD PMID:18708360|REF_RGD_ID:4891915 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9351 diabetes mellitus ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18385799|REF_RGD_ID:2307062 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604061 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17966842|REF_RGD_ID:2307064 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9452 steatotic liver disease ISO RGD:1604061 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:28011329|REF_RGD_ID:14995306 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9452 steatotic liver disease ISO RGD:69127 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:28011329|REF_RGD_ID:14995306 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9743 diabetic neuropathy ISO RGD:1604061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:serum PMID:19276232|REF_RGD_ID:2307060 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1604061 D RGD:9068941 20200609 RGD DNA:SNPs:rs4251719, rs2306630, rs2107538 (human) PMID:16855620|REF_RGD_ID:2307102 8766000 Ccl5 C-C motif chemokine ligand 5 gene DOID:9970 obesity ISO RGD:69069 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18469848|REF_RGD_ID:2307038 8766008 Cic capicua transcriptional repressor gene DOID:0060041 autism spectrum disorder ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8766008 Cic capicua transcriptional repressor gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1321769 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability 8766008 Cic capicua transcriptional repressor gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1321769 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:25741868 8766008 Cic capicua transcriptional repressor gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:1321769 D RGD:7240710 20190315 OMIM 8766008 Cic capicua transcriptional repressor gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CIC-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 PMID:21076407|PMID:24307393|PMID:24728327|PMID:25741868|PMID:28288114|PMID:28492532|PMID:32820034|PMID:34906502|PMID:35165976 8766008 Cic capicua transcriptional repressor gene DOID:1059 intellectual disability ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8766008 Cic capicua transcriptional repressor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1321769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28288114 8766008 Cic capicua transcriptional repressor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8766008 Cic capicua transcriptional repressor gene DOID:1342 congenital hypoplastic anemia ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8766008 Cic capicua transcriptional repressor gene DOID:150 disease of mental health ISO RGD:1321770 D RGD:9068941 20220825 MouseDO 8766008 Cic capicua transcriptional repressor gene DOID:1826 epilepsy ISO RGD:1321769 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8766008 Cic capicua transcriptional repressor gene DOID:2340 craniosynostosis ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 8766008 Cic capicua transcriptional repressor gene DOID:3181 oligodendroglioma ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodendroglioma 8766008 Cic capicua transcriptional repressor gene DOID:5419 schizophrenia ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8766008 Cic capicua transcriptional repressor gene DOID:630 genetic disease ISO RGD:1321769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532|PMID:34906502 8766008 Cic capicua transcriptional repressor gene DOID:7154 anaplastic oligodendroglioma ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anaplastic oligodendroglioma 8766008 Cic capicua transcriptional repressor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869830 8766008 Cic capicua transcriptional repressor gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1321769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337722 8766008 Cic capicua transcriptional repressor gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8766008 Cic capicua transcriptional repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8766008 Cic capicua transcriptional repressor gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28288114 8766008 Cic capicua transcriptional repressor gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:1321769 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin PMID:25741868 8766008 Cic capicua transcriptional repressor gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1321769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 8766008 Cic capicua transcriptional repressor gene DOID:9269 maple syrup urine disease ISO RGD:1321769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8766065 Terf1 telomeric repeat binding factor 1 gene DOID:10534 stomach cancer ISO RGD:1323104 D RGD:9068941 20200609 RGD protein:increased expression:gastric mucosa (human) PMID:20127252|REF_RGD_ID:2317220 8766065 Terf1 telomeric repeat binding factor 1 gene DOID:1612 breast cancer ISO RGD:1323104 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast tumor (human) PMID:18720522|REF_RGD_ID:2317222 8766065 Terf1 telomeric repeat binding factor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1323105 D RGD:9068941 20200609 RGD PMID:19679647|REF_RGD_ID:2317221 8766065 Terf1 telomeric repeat binding factor 1 gene DOID:630 genetic disease ISO RGD:1323104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766081 Cdc37l1 cell division cycle 37 like 1, HSP90 cochaperone gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8766081 Cdc37l1 cell division cycle 37 like 1, HSP90 cochaperone gene DOID:630 genetic disease ISO RGD:1319564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766101 Mfap4 microfibril associated protein 4 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1317270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8766101 Mfap4 microfibril associated protein 4 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1317270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8766101 Mfap4 microfibril associated protein 4 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1317270 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8766101 Mfap4 microfibril associated protein 4 gene DOID:12849 autistic disorder ISO RGD:1317270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8766101 Mfap4 microfibril associated protein 4 gene DOID:630 genetic disease ISO RGD:1317270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766101 Mfap4 microfibril associated protein 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8766101 Mfap4 microfibril associated protein 4 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1317270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 8766113 Arhgdib Rho GDP dissociation inhibitor beta gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1313380 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8766113 Arhgdib Rho GDP dissociation inhibitor beta gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8766113 Arhgdib Rho GDP dissociation inhibitor beta gene DOID:630 genetic disease ISO RGD:1313380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766113 Arhgdib Rho GDP dissociation inhibitor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8766113 Arhgdib Rho GDP dissociation inhibitor beta gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1313380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8766123 Sirt1 sirtuin 1 gene DOID:0060180 colitis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19940103|PMID:24548422|PMID:24782617 8766123 Sirt1 sirtuin 1 gene DOID:0060224 atrial fibrillation ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8766123 Sirt1 sirtuin 1 gene DOID:0060903 thrombosis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25339356 8766123 Sirt1 sirtuin 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26026874 8766123 Sirt1 sirtuin 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:1318374 D RGD:9068941 20200609 RGD associated with Obesity, Morbid;mRNA:decreased expression:visceral abdominal adipose tissue PMID:20033348|REF_RGD_ID:9586021 8766123 Sirt1 sirtuin 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:1318374 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:22902550|REF_RGD_ID:9585746 8766123 Sirt1 sirtuin 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:17498258|REF_RGD_ID:9585663 8766123 Sirt1 sirtuin 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 8766123 Sirt1 sirtuin 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1318374 D RGD:9068941 20200609 RGD PMID:23038275|REF_RGD_ID:9585760 8766123 Sirt1 sirtuin 1 gene DOID:10603 glucose intolerance ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21321189 8766123 Sirt1 sirtuin 1 gene DOID:10652 Alzheimer's disease ISO RGD:1318375 D RGD:9068941 20200609 RGD protein:increased expression:forebrain (mouse) PMID:17581637|REF_RGD_ID:2290573 8766123 Sirt1 sirtuin 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1318375 D RGD:9068941 20200609 RGD PMID:16751189|REF_RGD_ID:10047116 8766123 Sirt1 sirtuin 1 gene DOID:114 heart disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 8766123 Sirt1 sirtuin 1 gene DOID:11476 osteoporosis treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:22555620|PMID:25377437|REF_RGD_ID:10047129|REF_RGD_ID:10053568 8766123 Sirt1 sirtuin 1 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:1318375 D RGD:9068941 20220825 MouseDO OMIM:125800 | OMIM:304800 8766123 Sirt1 sirtuin 1 gene DOID:12858 Huntington's disease ISO RGD:1318374 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human) PMID:9949199|REF_RGD_ID:10395240 8766123 Sirt1 sirtuin 1 gene DOID:12858 Huntington's disease ISO RGD:1318374 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex PMID:18538940|REF_RGD_ID:9586004 8766123 Sirt1 sirtuin 1 gene DOID:12858 Huntington's disease ISO RGD:1318375 D RGD:9068941 20200609 RGD PMID:22179316|REF_RGD_ID:9585998 8766123 Sirt1 sirtuin 1 gene DOID:1289 neurodegenerative disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17581637|PMID:17652729 8766123 Sirt1 sirtuin 1 gene DOID:1826 epilepsy ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:23644113|REF_RGD_ID:9585747 8766123 Sirt1 sirtuin 1 gene DOID:1826 epilepsy ISO RGD:1318374 D RGD:9068941 20200609 RGD protein:increased expression:temporal lobe PMID:23644113|REF_RGD_ID:9585747 8766123 Sirt1 sirtuin 1 gene DOID:1875 impotence treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:24467772|REF_RGD_ID:9495931 8766123 Sirt1 sirtuin 1 gene DOID:1936 atherosclerosis ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:abdominal aorta PMID:21810449|REF_RGD_ID:9585743 8766123 Sirt1 sirtuin 1 gene DOID:1936 atherosclerosis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20068143 8766123 Sirt1 sirtuin 1 gene DOID:3021 acute kidney failure ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21416250 8766123 Sirt1 sirtuin 1 gene DOID:3021 acute kidney failure severity ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:21416250|REF_RGD_ID:10047111 8766123 Sirt1 sirtuin 1 gene DOID:3213 demyelinating disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23547115 8766123 Sirt1 sirtuin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318375 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (mouse) PMID:17581637|REF_RGD_ID:2290573 8766123 Sirt1 sirtuin 1 gene DOID:3347 osteosarcoma ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793039 8766123 Sirt1 sirtuin 1 gene DOID:3454 brain infarction ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22878646 8766123 Sirt1 sirtuin 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1318375 D RGD:9068941 20200609 RGD PMID:23600725|REF_RGD_ID:9585664 8766123 Sirt1 sirtuin 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:23600725|REF_RGD_ID:9585664 8766123 Sirt1 sirtuin 1 gene DOID:417 autoimmune disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23993977 8766123 Sirt1 sirtuin 1 gene DOID:418 systemic scleroderma ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25707573 8766123 Sirt1 sirtuin 1 gene DOID:4448 macular degeneration ISO RGD:1318374 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:21890195|REF_RGD_ID:9585773 8766123 Sirt1 sirtuin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19720090 8766123 Sirt1 sirtuin 1 gene DOID:552 pneumonia ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24633890 8766123 Sirt1 sirtuin 1 gene DOID:5679 retinal disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 8766123 Sirt1 sirtuin 1 gene DOID:5844 myocardial infarction ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:20089851|REF_RGD_ID:2316169 8766123 Sirt1 sirtuin 1 gene DOID:6000 congestive heart failure ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24535859 8766123 Sirt1 sirtuin 1 gene DOID:630 genetic disease ISO RGD:1318374 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26008601|PMID:28492532 8766123 Sirt1 sirtuin 1 gene DOID:8947 diabetic retinopathy ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894401 8766123 Sirt1 sirtuin 1 gene DOID:9000040 Hypertrophy ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23297412 8766123 Sirt1 sirtuin 1 gene DOID:9000310 Lung Injury ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24633890 8766123 Sirt1 sirtuin 1 gene DOID:9000784 Fibrosis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20651248 8766123 Sirt1 sirtuin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793039 8766123 Sirt1 sirtuin 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:17970622|REF_RGD_ID:9497541 8766123 Sirt1 sirtuin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26435214 8766123 Sirt1 sirtuin 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:21554952|REF_RGD_ID:9585770 8766123 Sirt1 sirtuin 1 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:22113495|REF_RGD_ID:7240568 8766123 Sirt1 sirtuin 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1318374 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:37030624 8766123 Sirt1 sirtuin 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 8766123 Sirt1 sirtuin 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:24557422|REF_RGD_ID:9497542 8766123 Sirt1 sirtuin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062352 8766123 Sirt1 sirtuin 1 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:17322642|REF_RGD_ID:9586020 8766123 Sirt1 sirtuin 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24252177 8766123 Sirt1 sirtuin 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23547115 8766123 Sirt1 sirtuin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17581637 8766123 Sirt1 sirtuin 1 gene DOID:9002981 Genomic Instability ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 8766123 Sirt1 sirtuin 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:25281201|REF_RGD_ID:13514043 8766123 Sirt1 sirtuin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:myocardium PMID:18192848|REF_RGD_ID:2293330 8766123 Sirt1 sirtuin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:heart PMID:19142216|REF_RGD_ID:9495934 8766123 Sirt1 sirtuin 1 gene DOID:9005246 Paralysis ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23547115 8766123 Sirt1 sirtuin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186|PMID:23792339 8766123 Sirt1 sirtuin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:22179968|REF_RGD_ID:9586012 8766123 Sirt1 sirtuin 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:22324445|REF_RGD_ID:9495930 8766123 Sirt1 sirtuin 1 gene DOID:9006302 Binge Drinking ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:24416161|REF_RGD_ID:9495933 8766123 Sirt1 sirtuin 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:25356430|REF_RGD_ID:10053569 8766123 Sirt1 sirtuin 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20068143 8766123 Sirt1 sirtuin 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:21514307|REF_RGD_ID:9585758 8766123 Sirt1 sirtuin 1 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1318374 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:carotid artery segment PMID:23224247|REF_RGD_ID:9495924 8766123 Sirt1 sirtuin 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22523472 8766123 Sirt1 sirtuin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20068143|PMID:21321189|PMID:24442997|PMID:25849131|PMID:26026874 8766123 Sirt1 sirtuin 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Obesity PMID:19996381|REF_RGD_ID:9585759 8766123 Sirt1 sirtuin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21060073 8766123 Sirt1 sirtuin 1 gene DOID:9008691 Liver Injury treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD associated with Sepsis PMID:25004063|REF_RGD_ID:9586016 8766123 Sirt1 sirtuin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 8766123 Sirt1 sirtuin 1 gene DOID:9351 diabetes mellitus ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894401 8766123 Sirt1 sirtuin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 8766123 Sirt1 sirtuin 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:19549853|REF_RGD_ID:9585997 8766123 Sirt1 sirtuin 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1318375 D RGD:9068941 20200609 RGD associated with Obesity PMID:18046409|REF_RGD_ID:9585769 8766123 Sirt1 sirtuin 1 gene DOID:9452 steatotic liver disease ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21321189|PMID:23834033|PMID:24184811|PMID:24210820|PMID:24442997 8766123 Sirt1 sirtuin 1 gene DOID:9452 steatotic liver disease ISO RGD:1318375 D RGD:9068941 20200609 RGD associated with Obesity PMID:21540183|REF_RGD_ID:9585751 8766123 Sirt1 sirtuin 1 gene DOID:9452 steatotic liver disease ISO RGD:1318375 D RGD:9068941 20220825 MouseDO OMIM:228100 8766123 Sirt1 sirtuin 1 gene DOID:9669 senile cataract ISO RGD:1318374 D RGD:9068941 20200609 RGD PMID:21501079|REF_RGD_ID:10045354 8766123 Sirt1 sirtuin 1 gene DOID:9970 obesity ISO RGD:1308542 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:24135502|REF_RGD_ID:9586064 8766123 Sirt1 sirtuin 1 gene DOID:9970 obesity ISO RGD:1318374 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24184811 8766123 Sirt1 sirtuin 1 gene DOID:9970 obesity treatment ISO RGD:1308542 D RGD:9068941 20200609 RGD PMID:24773342|REF_RGD_ID:9585762 8766123 Sirt1 sirtuin 1 gene DOID:9975 cocaine dependence ISO RGD:1308542 D RGD:9068941 20231130 RGD protein:increased expression:brain, nucleus accumbens (rat) PMID:27664298|REF_RGD_ID:401900166 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:0050713 COX deficiency, infantile mitochondrial myopathy ISO RGD:1601870 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:0060041 autism spectrum disorder ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1601870 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:23643385|PMID:25741868|PMID:28492532 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 PMID:23643385|PMID:25741868|PMID:28492532 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:23643385|PMID:25741868|PMID:28492532 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ISO RGD:1601870 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18804471|PMID:18924171|PMID:19353847|PMID:19879173|PMID:20159436|PMID:20445193|PMID:23345593|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25097374|PMID:25741868|PMID:25959673|PMID:27290639|PMID:28429146|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:30340907|PMID:30593977|PMID:31589614|PMID:31623504|PMID:31967322|PMID:32461654|PMID:32600061|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34362006|PMID:34426522|PMID:34691145|PMID:34732400|PMID:34746378|PMID:35083221|PMID:36678915 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1601870 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1601870 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:1059 intellectual disability ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:11832 visual epilepsy ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:15210538|PMID:16326995|PMID:16765077|PMID:23643385|PMID:23719228|PMID:25741868|PMID:28492532 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10545952|PMID:15210538|PMID:19879173|PMID:20159436|PMID:25741868|PMID:28492532 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:1826 epilepsy ISO RGD:1601870 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizures PMID:10545952|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32668698|PMID:33098801|PMID:34426522|PMID:34691145 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:23643385|PMID:25741868|PMID:25959673|PMID:28492532|PMID:28518168|PMID:32461654 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:630 genetic disease ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23643385|PMID:25741868|PMID:25959673|PMID:28492532|PMID:28518168|PMID:32461654 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1601870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:23643385|PMID:25741868|PMID:28492532 8766136 Ncaph2 non-SMC condensin II complex subunit H2 gene DOID:9004853 Myopia 6 ISO RGD:1601870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 6 | ClinVar Annotator: match by term: Myopia, susceptibility to PMID:10545952|PMID:10749987|PMID:11673586|PMID:12020273|PMID:14970747|PMID:14994243|PMID:15210538|PMID:16326995|PMID:16765077|PMID:18924171|PMID:19879173|PMID:23407777|PMID:23643385|PMID:23719228|PMID:25058219|PMID:25741868|PMID:25959673|PMID:27290639|PMID:28492532|PMID:28518168|PMID:28798025|PMID:29193756|PMID:29351582|PMID:31589614|PMID:31623504|PMID:32461654|PMID:32668698|PMID:33098801|PMID:33171185|PMID:34426522|PMID:34691145 8766182 Actg1 actin gamma 1 gene DOID:0050453 lissencephaly ISO RGD:1312061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:22366783|PMID:25741868|PMID:27240540|PMID:28492532|PMID:29671837 8766182 Actg1 actin gamma 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:13680526|PMID:19477959|PMID:30311386 8766182 Actg1 actin gamma 1 gene DOID:0060229 Baraitser-Winter syndrome ISO RGD:1312061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome PMID:31231230|PMID:32028042 8766182 Actg1 actin gamma 1 gene DOID:0080205 CAKUT ISO RGD:1312061 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:13680526|PMID:18414213|PMID:22366783|PMID:25052316|PMID:26188271|PMID:27625340|PMID:30143558|PMID:3351890 8766182 Actg1 actin gamma 1 gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:1312061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME PMID:31231230|PMID:32028042 8766182 Actg1 actin gamma 1 gene DOID:0081113 Baraitser-Winter syndrome 2 ISO RGD:1312061 D RGD:7240710 20180130 OMIM 8766182 Actg1 actin gamma 1 gene DOID:0081113 Baraitser-Winter syndrome 2 ISO RGD:1312061 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 PMID:13680526|PMID:14684684|PMID:17576681|PMID:18414213|PMID:19419963|PMID:19548389|PMID:22366783|PMID:24033266|PMID:25052316|PMID:25741868|PMID:26188271|PMID:26467025|PMID:27240540|PMID:27625340|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29357087|PMID:29620237|PMID:29671837|PMID:29986705|PMID:30008475|PMID:30143558|PMID:30622556|PMID:32341388|PMID:3351890|PMID:33584783|PMID:33604570|PMID:9536098 8766182 Actg1 actin gamma 1 gene DOID:0110550 autosomal dominant nonsyndromic deafness 20 ISO RGD:1312061 D RGD:7240710 20180130 OMIM 8766182 Actg1 actin gamma 1 gene DOID:0110550 autosomal dominant nonsyndromic deafness 20 ISO RGD:1312061 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 20 PMID:12519370|PMID:13680526|PMID:14684684|PMID:16773128|PMID:17576681|PMID:18414213|PMID:19419963|PMID:19477959|PMID:19548389|PMID:20301607|PMID:22366783|PMID:23506231|PMID:24033266|PMID:25052316|PMID:25741868|PMID:25792668|PMID:26188271|PMID:26467025|PMID:27240540|PMID:28000701|PMID:28492532|PMID:29196752|PMID:29357087|PMID:29620237|PMID:29671837|PMID:29907799|PMID:29986705|PMID:30008475|PMID:30311386|PMID:30622556|PMID:31231230|PMID:32028042|PMID:32341388|PMID:33584783|PMID:33604570|PMID:35802133|PMID:36633841|PMID:5654493|PMID:9536098 8766182 Actg1 actin gamma 1 gene DOID:1059 intellectual disability ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8766182 Actg1 actin gamma 1 gene DOID:10907 microcephaly ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8766182 Actg1 actin gamma 1 gene DOID:11476 osteoporosis ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8766182 Actg1 actin gamma 1 gene DOID:12270 coloboma ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 8766182 Actg1 actin gamma 1 gene DOID:305 carcinoma ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8766182 Actg1 actin gamma 1 gene DOID:630 genetic disease ISO RGD:1312061 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13680526|PMID:16773128|PMID:18414213|PMID:22366783|PMID:24033266|PMID:25052316|PMID:25741868|PMID:26188271|PMID:27240540|PMID:27625340|PMID:28492532|PMID:30143558|PMID:3351890 8766182 Actg1 actin gamma 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8766182 Actg1 actin gamma 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8766182 Actg1 actin gamma 1 gene DOID:9004538 Hearing Loss ISO RGD:1312061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19477959|PMID:20301607|PMID:24033266|PMID:25741868|PMID:25792668|PMID:30311386 8766182 Actg1 actin gamma 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8766182 Actg1 actin gamma 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 8766182 Actg1 actin gamma 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 8766182 Actg1 actin gamma 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 8766192 Atp5mk ATP synthase membrane subunit k gene DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ISO RGD:1347198 D RGD:7240710 20191211 OMIM 8766192 Atp5mk ATP synthase membrane subunit k gene DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 ISO RGD:1347198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 PMID:25741868|PMID:29917077 8766212 Rufy2 RUN and FYVE domain containing 2 gene DOID:630 genetic disease ISO RGD:1312074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766255 Slc46a3 solute carrier family 46 member 3 gene DOID:10283 prostate cancer ISO RGD:1606669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8766255 Slc46a3 solute carrier family 46 member 3 gene DOID:630 genetic disease ISO RGD:1606669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766282 Il6 interleukin 6 gene DOID:0040084 Streptococcus pneumonia ISO RGD:10802 D RGD:9068941 20201117 RGD protein:increased expression:lung,natural killer cell (mouse) PMID:21887255|REF_RGD_ID:40818252 8766282 Il6 interleukin 6 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10374863|REF_RGD_ID:11060275 8766282 Il6 interleukin 6 gene DOID:0050589 inflammatory bowel disease ISO RGD:1352582 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Crohn disease-associated growth failure, susceptibility to PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:18550579|PMID:9769329 8766282 Il6 interleukin 6 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:18159174|REF_RGD_ID:2317165 8766282 Il6 interleukin 6 gene DOID:0050685 small cell carcinoma disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20592377|REF_RGD_ID:4143263 8766282 Il6 interleukin 6 gene DOID:0050697 chorioamnionitis ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Premature Birth;protein:increased expression:tracheal aspirate fluid: PMID:25011638|REF_RGD_ID:12791291 8766282 Il6 interleukin 6 gene DOID:0050697 chorioamnionitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression: cervicovaginal fluid : PMID:25687566|REF_RGD_ID:12792243 8766282 Il6 interleukin 6 gene DOID:0050697 chorioamnionitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15547537|REF_RGD_ID:5128667 8766282 Il6 interleukin 6 gene DOID:0050700 cardiomyopathy ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 8766282 Il6 interleukin 6 gene DOID:0050848 obstructive sleep apnea ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20668869|REF_RGD_ID:4143251 8766282 Il6 interleukin 6 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:24625449|REF_RGD_ID:9589120 8766282 Il6 interleukin 6 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 8766282 Il6 interleukin 6 gene DOID:0060180 colitis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22410118|PMID:24548422 8766282 Il6 interleukin 6 gene DOID:0060496 respiratory allergy ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 8766282 Il6 interleukin 6 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1352582 D RGD:9068941 20240314 CTD CTD Direct Evidence: marker/mechanism 8766282 Il6 interleukin 6 gene DOID:0060688 arteriovenous malformations of the brain susceptibility ISO RGD:1352582 D RGD:7240710 20240313 OMIM 8766282 Il6 interleukin 6 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1352582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 8766282 Il6 interleukin 6 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human) PMID:19573080|REF_RGD_ID:11049165 8766282 Il6 interleukin 6 gene DOID:0060901 lymphoplasmacytic lymphoma no_association ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 8766282 Il6 interleukin 6 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:2901 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 8766282 Il6 interleukin 6 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs10499563, rs1800795 (human) PMID:27730688|REF_RGD_ID:14975293 8766282 Il6 interleukin 6 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1352582 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,plasma PMID:18510618|REF_RGD_ID:7829808 8766282 Il6 interleukin 6 gene DOID:0080333 aortic valve disease 1 severity ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:23969418|REF_RGD_ID:12792206 8766282 Il6 interleukin 6 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174G>C (human) PMID:28852433|REF_RGD_ID:14975143 8766282 Il6 interleukin 6 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ameliorates ISO RGD:10802 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 8766282 Il6 interleukin 6 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10802 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome;protein:increased expression:lung PMID:19906920|REF_RGD_ID:4891446 8766282 Il6 interleukin 6 gene DOID:0080600 COVID-19 ISO RGD:1352582 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 8766282 Il6 interleukin 6 gene DOID:0080600 COVID-19 ISO RGD:1352582 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8766282 Il6 interleukin 6 gene DOID:0080600 COVID-19 ISO RGD:1352582 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32026671|PMID:32161940|PMID:32171193|PMID:32534021 8766282 Il6 interleukin 6 gene DOID:0080600 COVID-19 disease_progression ISO RGD:1352582 D RGD:9068941 20200618 RGD PMID:32407836|REF_RGD_ID:30309206 8766282 Il6 interleukin 6 gene DOID:0080600 COVID-19 disease_progression ISO RGD:1352582 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 8766282 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8766282 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:9068941 20200625 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) PMID:32456948|REF_RGD_ID:30309957 8766282 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:9068941 20200625 RGD protein:increased expression:blood (human) PMID:32181911|REF_RGD_ID:30310230 8766282 Il6 interleukin 6 gene DOID:0080600 COVID-19 severity ISO RGD:1352582 D RGD:9068941 20200723 RGD protein:increased expression:serum (human) PMID:32125452|PMID:32164089|PMID:32227274|PMID:32297828|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:27095965|REF_RGD_ID:27226695|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238|REF_RGD_ID:32716368|REF_RGD_ID:36049814 8766282 Il6 interleukin 6 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10802 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8766282 Il6 interleukin 6 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10802 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 8766282 Il6 interleukin 6 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10802 D RGD:9068941 20200625 RGD protein:increased expression:serum: PMID:30634407|REF_RGD_ID:30309958 8766282 Il6 interleukin 6 gene DOID:0080743 transverse myelitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebral spinal fluid: PMID:20128675|REF_RGD_ID:7829722 8766282 Il6 interleukin 6 gene DOID:0080745 polymyositis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8766282 Il6 interleukin 6 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:19050604|REF_RGD_ID:11062108 8766282 Il6 interleukin 6 gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:11780340|REF_RGD_ID:11062058 8766282 Il6 interleukin 6 gene DOID:0111157 Castleman disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15182131 8766282 Il6 interleukin 6 gene DOID:10140 dry eye syndrome susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with arthritis,rehumatoid arthritis;DNA:polymorphims:promoter:-174G>C(human) PMID:18419107|REF_RGD_ID:7829751 8766282 Il6 interleukin 6 gene DOID:10247 pleurisy ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 8766282 Il6 interleukin 6 gene DOID:10322 berylliosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8428540 8766282 Il6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 8766282 Il6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP: :rs2069837 (human) PMID:27049718|REF_RGD_ID:14975290 8766282 Il6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1800796, rs10499563 (human) PMID:28442395|REF_RGD_ID:14975291 8766282 Il6 interleukin 6 gene DOID:10534 stomach cancer ISO RGD:1352582 D RGD:9068941 20210528 RGD human cells in mouse model;associated with mental depression; protein:increased expression:blood serum, stomach (human) PMID:31396300|REF_RGD_ID:126908003 8766282 Il6 interleukin 6 gene DOID:10534 stomach cancer no_association ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6949149 (human) PMID:28442395|REF_RGD_ID:14975291 8766282 Il6 interleukin 6 gene DOID:10591 pre-eclampsia ameliorates ISO RGD:2901 D RGD:9068941 20230323 RGD PMID:31203154|REF_RGD_ID:213230155 8766282 Il6 interleukin 6 gene DOID:10608 celiac disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) PMID:18692934|REF_RGD_ID:2307292 8766282 Il6 interleukin 6 gene DOID:10652 Alzheimer's disease treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27088818|REF_RGD_ID:11062148 8766282 Il6 interleukin 6 gene DOID:1073 renal hypertension ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22188107|REF_RGD_ID:6907405 8766282 Il6 interleukin 6 gene DOID:10754 otitis media IEP D RGD:11553900|PMID:10085040 20161017 RGD 8766282 Il6 interleukin 6 gene DOID:10754 otitis media susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C(human) PMID:17908769|REF_RGD_ID:7365054 8766282 Il6 interleukin 6 gene DOID:10763 hypertension ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19043252|REF_RGD_ID:2307283 8766282 Il6 interleukin 6 gene DOID:10763 hypertension ISO RGD:1352582 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127 8766282 Il6 interleukin 6 gene DOID:10763 hypertension ISO RGD:1352582 D RGD:9068941 20230720 RGD protein:increased expression:blood serum (human) PMID:26502942|REF_RGD_ID:329955577 8766282 Il6 interleukin 6 gene DOID:10763 hypertension susceptibility ISO RGD:1352582 D RGD:9068941 20200806 RGD associated with end stage renal disease; DNA:polymorphisms:promoter: -174G>C (human) PMID:12846758|REF_RGD_ID:1580485 8766282 Il6 interleukin 6 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor: PMID:22490043|REF_RGD_ID:7829793 8766282 Il6 interleukin 6 gene DOID:10914 amnestic disorder ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9189931 8766282 Il6 interleukin 6 gene DOID:10941 intracranial aneurysm ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:16648144|REF_RGD_ID:1580488 8766282 Il6 interleukin 6 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Otitis Media;protein:increased expression:ear: PMID:21311206|REF_RGD_ID:7364848 8766282 Il6 interleukin 6 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:ear: PMID:8652157|REF_RGD_ID:7829727 8766282 Il6 interleukin 6 gene DOID:11168 anogenital venereal wart ISO RGD:1352582 D RGD:9068941 20201105 RGD protein:decreased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 8766282 Il6 interleukin 6 gene DOID:1123 spondyloarthropathy ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9489833|REF_RGD_ID:7829742 8766282 Il6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16613997|REF_RGD_ID:11049462 8766282 Il6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:16932226|REF_RGD_ID:11062099 8766282 Il6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation severity ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Hemorrhagic Fever, Crimean PMID:16518755|REF_RGD_ID:10450536 8766282 Il6 interleukin 6 gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:16810104|REF_RGD_ID:11060278 8766282 Il6 interleukin 6 gene DOID:11446 sciatic neuropathy ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion PMID:20519054|REF_RGD_ID:5128675 8766282 Il6 interleukin 6 gene DOID:11476 osteoporosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15995586 8766282 Il6 interleukin 6 gene DOID:11563 retinal vasculitis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:19834028|REF_RGD_ID:11039401 8766282 Il6 interleukin 6 gene DOID:11714 gestational diabetes ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:extracellular space (human) PMID:19408175|REF_RGD_ID:2307186 8766282 Il6 interleukin 6 gene DOID:11716 prediabetes syndrome ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:extracellular space (human) PMID:19442860|REF_RGD_ID:2307180 8766282 Il6 interleukin 6 gene DOID:11758 iron deficiency anemia ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat) PMID:18808386|REF_RGD_ID:11062011 8766282 Il6 interleukin 6 gene DOID:1205 allergic disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8766282 Il6 interleukin 6 gene DOID:12157 aseptic meningitis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10888991 8766282 Il6 interleukin 6 gene DOID:12241 beta thalassemia ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23905873|REF_RGD_ID:11041617 8766282 Il6 interleukin 6 gene DOID:12361 Graves' disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 8766282 Il6 interleukin 6 gene DOID:12361 Graves' disease ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-572C>G(human) PMID:21235536|REF_RGD_ID:7829719 8766282 Il6 interleukin 6 gene DOID:12361 Graves' disease disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:12818091|REF_RGD_ID:7829750 8766282 Il6 interleukin 6 gene DOID:12466 secondary hyperparathyroidism ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21350317 8766282 Il6 interleukin 6 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 8766282 Il6 interleukin 6 gene DOID:12678 hypercalcemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10638776 8766282 Il6 interleukin 6 gene DOID:12704 ataxia telangiectasia severity ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:26851119|REF_RGD_ID:11529801 8766282 Il6 interleukin 6 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Otitis media;protein:increased expression:serum: PMID:19352211|REF_RGD_ID:8142352 8766282 Il6 interleukin 6 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:20622030|REF_RGD_ID:4143259 8766282 Il6 interleukin 6 gene DOID:12835 quadriplegia susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with males:DNA:SNPs, haplotype: : rs1800796, rs2069837(human) PMID:23415255|REF_RGD_ID:12792240 8766282 Il6 interleukin 6 gene DOID:12849 autistic disorder ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8964908 8766282 Il6 interleukin 6 gene DOID:12849 autistic disorder treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:26418275|REF_RGD_ID:12792236 8766282 Il6 interleukin 6 gene DOID:12858 Huntington's disease treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:11860469|REF_RGD_ID:10402809 8766282 Il6 interleukin 6 gene DOID:1289 neurodegenerative disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12836160 8766282 Il6 interleukin 6 gene DOID:12894 Sjogren's syndrome ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:11426023|REF_RGD_ID:7829718 8766282 Il6 interleukin 6 gene DOID:12894 Sjogren's syndrome severity ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphims:promoter:-174G>C(human) PMID:11426023|REF_RGD_ID:7829718 8766282 Il6 interleukin 6 gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva: PMID:10487957|REF_RGD_ID:7829756 8766282 Il6 interleukin 6 gene DOID:13141 uveitis ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:1544781|REF_RGD_ID:7829806 8766282 Il6 interleukin 6 gene DOID:13141 uveitis ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:serum: PMID:15209464|REF_RGD_ID:7387294 8766282 Il6 interleukin 6 gene DOID:13141 uveitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor: PMID:10420202|REF_RGD_ID:7829723 8766282 Il6 interleukin 6 gene DOID:13141 uveitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:eye PMID:1544781|REF_RGD_ID:7829806 8766282 Il6 interleukin 6 gene DOID:13197 nodular goiter ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 8766282 Il6 interleukin 6 gene DOID:13241 Behcet's disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased secretion:monocyte: PMID:8164212|REF_RGD_ID:7829752 8766282 Il6 interleukin 6 gene DOID:13580 cholestasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 8766282 Il6 interleukin 6 gene DOID:13593 eclampsia treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27106269|REF_RGD_ID:11062145 8766282 Il6 interleukin 6 gene DOID:13619 extrahepatic cholestasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8766282 Il6 interleukin 6 gene DOID:1389 polyneuropathy ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19131463|REF_RGD_ID:2307274 8766282 Il6 interleukin 6 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 8766282 Il6 interleukin 6 gene DOID:14115 toxic shock syndrome treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:2124237|REF_RGD_ID:11060276 8766282 Il6 interleukin 6 gene DOID:14330 Parkinson's disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 8766282 Il6 interleukin 6 gene DOID:1470 major depressive disorder ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP, haplotype:promoter:-174G>C (human) PMID:30734130|REF_RGD_ID:14975122 8766282 Il6 interleukin 6 gene DOID:1474 aggressive periodontitis ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174G>C (human) PMID:28662328|REF_RGD_ID:14975139 8766282 Il6 interleukin 6 gene DOID:1485 cystic fibrosis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:16403491|REF_RGD_ID:5128672 8766282 Il6 interleukin 6 gene DOID:1485 cystic fibrosis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20438838|REF_RGD_ID:4143275 8766282 Il6 interleukin 6 gene DOID:1532 pleural disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 8766282 Il6 interleukin 6 gene DOID:1580 diffuse scleroderma treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:20338043|REF_RGD_ID:12792275 8766282 Il6 interleukin 6 gene DOID:1588 thrombocytopenia severity ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Malaria, Vivax PMID:25128199|REF_RGD_ID:11041893 8766282 Il6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:10802 D RGD:9068941 20210507 RGD protein:increased expression:serum, hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 8766282 Il6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18458677 8766282 Il6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:1352582 D RGD:9068941 20200924 RGD associated with Chronic Hepatitis C; DNA:insertion/deletion:promoter: PMID:23571152|REF_RGD_ID:38676480 8766282 Il6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:1352582 D RGD:9068941 20210528 RGD associated with gastric adenocarcinoma; protein:increased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 8766282 Il6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:23589140|REF_RGD_ID:10402829 8766282 Il6 interleukin 6 gene DOID:1596 depressive disorder ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:27106565|REF_RGD_ID:11062144 8766282 Il6 interleukin 6 gene DOID:1596 depressive disorder treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:promoter:-174G>C (human) PMID:28083615|REF_RGD_ID:14975286 8766282 Il6 interleukin 6 gene DOID:1612 breast cancer susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism::rs2069832(human) PMID:17594514|REF_RGD_ID:7829720 8766282 Il6 interleukin 6 gene DOID:1687 neovascular glaucoma disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Retinal Vein Occlusion;protein:increased expression:aqueous humor: PMID:10509659|REF_RGD_ID:7829814 8766282 Il6 interleukin 6 gene DOID:1727 retinal vein occlusion ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 8766282 Il6 interleukin 6 gene DOID:1749 squamous cell carcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26372664 8766282 Il6 interleukin 6 gene DOID:1790 malignant mesothelioma ISO RGD:1352582 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8766282 Il6 interleukin 6 gene DOID:1793 pancreatic cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:30610790|REF_RGD_ID:14975253 8766282 Il6 interleukin 6 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:30304975|REF_RGD_ID:14975257 8766282 Il6 interleukin 6 gene DOID:1826 epilepsy ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:brain,plasma PMID:28303499|REF_RGD_ID:13524859 8766282 Il6 interleukin 6 gene DOID:1875 impotence treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:21492407|REF_RGD_ID:10402827 8766282 Il6 interleukin 6 gene DOID:1875 impotence treatment ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:24467772|REF_RGD_ID:9495931 8766282 Il6 interleukin 6 gene DOID:1883 hepatitis C ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1474348, rs1800796, rs1800797 (human) PMID:28340949|REF_RGD_ID:14975144 8766282 Il6 interleukin 6 gene DOID:1883 hepatitis C no_association ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:28340949|REF_RGD_ID:14975144 8766282 Il6 interleukin 6 gene DOID:1924 hypogonadism ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:20221887|REF_RGD_ID:2317160 8766282 Il6 interleukin 6 gene DOID:1936 atherosclerosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 8766282 Il6 interleukin 6 gene DOID:1936 atherosclerosis ameliorates ISO RGD:10802 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 8766282 Il6 interleukin 6 gene DOID:1936 atherosclerosis treatment ISO RGD:10802 D RGD:9068941 20230930 RGD PMID:29593532|REF_RGD_ID:401827839 8766282 Il6 interleukin 6 gene DOID:1993 rectum cancer treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:28272402|REF_RGD_ID:14975288 8766282 Il6 interleukin 6 gene DOID:2018 hyperinsulinism ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19375766|REF_RGD_ID:2307250 8766282 Il6 interleukin 6 gene DOID:2043 hepatitis B ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174C>G (human) PMID:27268603|REF_RGD_ID:14975295 8766282 Il6 interleukin 6 gene DOID:2048 autoimmune hepatitis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 8766282 Il6 interleukin 6 gene DOID:2316 brain ischemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17394460 8766282 Il6 interleukin 6 gene DOID:2355 anemia ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Colonic Neoplasms;protein:increased expression:serum (mouse) PMID:19265263|REF_RGD_ID:11060277 8766282 Il6 interleukin 6 gene DOID:2355 anemia ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Inflammation PMID:24357729|REF_RGD_ID:11041614 8766282 Il6 interleukin 6 gene DOID:2377 multiple sclerosis ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:24155968|REF_RGD_ID:12792202 8766282 Il6 interleukin 6 gene DOID:2377 multiple sclerosis severity ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-572 G>C(human) PMID:23202972|REF_RGD_ID:12791288 8766282 Il6 interleukin 6 gene DOID:2377 multiple sclerosis treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C(human) PMID:26285213|REF_RGD_ID:11079567 8766282 Il6 interleukin 6 gene DOID:2513 basal cell carcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22108589 8766282 Il6 interleukin 6 gene DOID:26 pancreas disease ISO RGD:10802 D RGD:9068941 20200609 RGD insulitis associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) PMID:18772604|REF_RGD_ID:2307287 8766282 Il6 interleukin 6 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage (rat) PMID:10988147|REF_RGD_ID:11062092 8766282 Il6 interleukin 6 gene DOID:2799 bronchiolitis obliterans ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20393404|REF_RGD_ID:4143277 8766282 Il6 interleukin 6 gene DOID:2841 asthma ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20840469|PMID:21115736|REF_RGD_ID:4143265|REF_RGD_ID:5128630 8766282 Il6 interleukin 6 gene DOID:2841 asthma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29902480 8766282 Il6 interleukin 6 gene DOID:2841 asthma ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Hypersensitivity;protein:increased expression:sputum PMID:20816188|REF_RGD_ID:4143266 8766282 Il6 interleukin 6 gene DOID:2841 asthma ISO RGD:2901 D RGD:9068941 20211126 RGD protein:increased expression:lung PMID:20658762|REF_RGD_ID:4143271 8766282 Il6 interleukin 6 gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174G>C (human) PMID:15718915|REF_RGD_ID:11049178 8766282 Il6 interleukin 6 gene DOID:2921 glomerulonephritis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9403216 8766282 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:10802 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8766282 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352582 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 8766282 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352582 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15271897|REF_RGD_ID:32716401 8766282 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome ISO RGD:2901 D RGD:9068941 20200702 RGD protein:increased expression:serum, Bronchoalveolar Lavage fluid (rat) PMID:16409721|REF_RGD_ID:32726073 8766282 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352582 D RGD:9068941 20200702 RGD protein:increased expression:blood (human) PMID:15472864|REF_RGD_ID:34888224 8766282 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1352582 D RGD:9068941 20200619 RGD protein:increased expression:serum (human) PMID:15657466|REF_RGD_ID:30309219 8766282 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:10802 D RGD:9068941 20230302 RGD PMID:32553273|REF_RGD_ID:32716426 8766282 Il6 interleukin 6 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1352582 D RGD:9068941 20230302 RGD PMID:15865221|REF_RGD_ID:33769580 8766282 Il6 interleukin 6 gene DOID:2957 pulmonary tuberculosis ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:20624776|REF_RGD_ID:4143257 8766282 Il6 interleukin 6 gene DOID:2987 familial mediterranean fever ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20518740|REF_RGD_ID:5686880 8766282 Il6 interleukin 6 gene DOID:3021 acute kidney failure ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21570986 8766282 Il6 interleukin 6 gene DOID:3021 acute kidney failure ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Acute Lung Injury;protein:increased expression:plasma PMID:18074478|REF_RGD_ID:5128661 8766282 Il6 interleukin 6 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28864214|PMID:29329563|PMID:31349846 8766282 Il6 interleukin 6 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20819268|REF_RGD_ID:4143243 8766282 Il6 interleukin 6 gene DOID:3087 gingivitis ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) PMID:19186972|REF_RGD_ID:2307265 8766282 Il6 interleukin 6 gene DOID:319 spinal cord disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:30327453|REF_RGD_ID:14975119 8766282 Il6 interleukin 6 gene DOID:3229 gastric dilatation ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:30249047|REF_RGD_ID:14975138 8766282 Il6 interleukin 6 gene DOID:326 ischemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18091701 8766282 Il6 interleukin 6 gene DOID:331 central nervous system disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Behcet Snydorme;protein:increased activity:cerebral spinal fluid: PMID:9000037|REF_RGD_ID:7829731 8766282 Il6 interleukin 6 gene DOID:3310 atopic dermatitis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 8766282 Il6 interleukin 6 gene DOID:3388 periodontal disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) PMID:19017034|REF_RGD_ID:2307284 8766282 Il6 interleukin 6 gene DOID:3388 periodontal disease severity ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:17286759|REF_RGD_ID:1601585 8766282 Il6 interleukin 6 gene DOID:3393 coronary artery disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19368923|REF_RGD_ID:2307251 8766282 Il6 interleukin 6 gene DOID:341 peripheral vascular disease ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; protein:increased expression:extracellular space (human) PMID:19397692|REF_RGD_ID:2307191 8766282 Il6 interleukin 6 gene DOID:3525 middle cerebral artery infarction ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626|PMID:21940958|PMID:25257527 8766282 Il6 interleukin 6 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:29498696|REF_RGD_ID:13792833 8766282 Il6 interleukin 6 gene DOID:3526 cerebral infarction treatment ISO RGD:10802 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 8766282 Il6 interleukin 6 gene DOID:37 skin disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 8766282 Il6 interleukin 6 gene DOID:3717 gastric adenocarcinoma ISO RGD:1352582 D RGD:9068941 20210507 RGD protein:increased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 8766282 Il6 interleukin 6 gene DOID:3770 pulmonary fibrosis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20846163|REF_RGD_ID:4143241 8766282 Il6 interleukin 6 gene DOID:3770 pulmonary fibrosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17266442|PMID:25216247 8766282 Il6 interleukin 6 gene DOID:3825 Shwartzman phenomenon treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:1381315|REF_RGD_ID:11060272 8766282 Il6 interleukin 6 gene DOID:417 autoimmune disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077085 8766282 Il6 interleukin 6 gene DOID:418 systemic scleroderma treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:23406616|REF_RGD_ID:12792238 8766282 Il6 interleukin 6 gene DOID:4195 hyperglycemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8766282 Il6 interleukin 6 gene DOID:4195 hyperglycemia ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:18608123|REF_RGD_ID:2307291 8766282 Il6 interleukin 6 gene DOID:4195 hyperglycemia ISO RGD:1352582 D RGD:9068941 20200609 RGD fasting glucose associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) PMID:18752089|REF_RGD_ID:2307290 8766282 Il6 interleukin 6 gene DOID:4251 conjunctival disease ISO RGD:1352582 D RGD:9068941 20200609 RGD conjunctivochalasis;protein:increased expression:tear: PMID:19158563|REF_RGD_ID:7829815 8766282 Il6 interleukin 6 gene DOID:4449 macular retinal edema ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Retinal vein occlusion;protein:increased expression:vitreous: PMID:22066978|REF_RGD_ID:7829760 8766282 Il6 interleukin 6 gene DOID:4449 macular retinal edema ISO RGD:1352582 D RGD:9068941 20221014 RGD associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) PMID:35799735|REF_RGD_ID:155582223 8766282 Il6 interleukin 6 gene DOID:4450 renal cell carcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7834629 8766282 Il6 interleukin 6 gene DOID:4677 keratitis susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:promoter:-174 G>C,−572 C/G(human) PMID:22503230|REF_RGD_ID:7829772 8766282 Il6 interleukin 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8766282 Il6 interleukin 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1352582 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:18550579|PMID:9769329 8766282 Il6 interleukin 6 gene DOID:5082 liver cirrhosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12830005 8766282 Il6 interleukin 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1768380|REF_RGD_ID:10449449 8766282 Il6 interleukin 6 gene DOID:5327 retinal detachment ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Retinal vein occlusion;protein:increased expression:aqueous humor,vitreous fluid: PMID:21978265|REF_RGD_ID:7829821 8766282 Il6 interleukin 6 gene DOID:5327 retinal detachment ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:1800167|REF_RGD_ID:7829748 8766282 Il6 interleukin 6 gene DOID:5419 schizophrenia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8067274 8766282 Il6 interleukin 6 gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum, ascites (human) PMID:9322101|REF_RGD_ID:11062135 8766282 Il6 interleukin 6 gene DOID:5463 cochlear disease ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:29304389|REF_RGD_ID:13792837 8766282 Il6 interleukin 6 gene DOID:552 pneumonia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8766282 Il6 interleukin 6 gene DOID:552 pneumonia disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:20595152|REF_RGD_ID:4140400 8766282 Il6 interleukin 6 gene DOID:574 peripheral nervous system disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18270703 8766282 Il6 interleukin 6 gene DOID:576 proteinuria ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human) PMID:19377212|REF_RGD_ID:2307194 8766282 Il6 interleukin 6 gene DOID:5773 oral submucous fibrosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28984080 8766282 Il6 interleukin 6 gene DOID:5844 myocardial infarction ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 8766282 Il6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135663|PMID:16360360 8766282 Il6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:28939262|REF_RGD_ID:14975271 8766282 Il6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) PMID:18999900|REF_RGD_ID:2307285 8766282 Il6 interleukin 6 gene DOID:6000 congestive heart failure ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart PMID:18280594|REF_RGD_ID:5128682 8766282 Il6 interleukin 6 gene DOID:630 genetic disease ISO RGD:1352582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766282 Il6 interleukin 6 gene DOID:6432 pulmonary hypertension ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:20693255|REF_RGD_ID:4143246 8766282 Il6 interleukin 6 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:20713898|REF_RGD_ID:4142530 8766282 Il6 interleukin 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9489833|REF_RGD_ID:7829742 8766282 Il6 interleukin 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17615358|PMID:20818158|PMID:26297436|PMID:27022031 8766282 Il6 interleukin 6 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:10802 D RGD:9068941 20210423 RGD mRNA,protein:increased expression:liver, blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 8766282 Il6 interleukin 6 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP: :rs2069852 (human) PMID:27368337|REF_RGD_ID:14975289 8766282 Il6 interleukin 6 gene DOID:699 mitochondrial myopathy ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8766282 Il6 interleukin 6 gene DOID:7147 ankylosing spondylitis ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26339141|REF_RGD_ID:12792209 8766282 Il6 interleukin 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274|PMID:22450443 8766282 Il6 interleukin 6 gene DOID:7188 autoimmune thyroiditis severity ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse) PMID:19301205|REF_RGD_ID:2307256 8766282 Il6 interleukin 6 gene DOID:783 end stage renal disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 8766282 Il6 interleukin 6 gene DOID:801 hemarthrosis treatment ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Hemophilia A PMID:23413986|REF_RGD_ID:11060150 8766282 Il6 interleukin 6 gene DOID:820 myocarditis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25396421 8766282 Il6 interleukin 6 gene DOID:824 periodontitis susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD chronic periodontitis PMID:17209781|REF_RGD_ID:1601588 8766282 Il6 interleukin 6 gene DOID:824 periodontitis treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:27795360|REF_RGD_ID:14975132 8766282 Il6 interleukin 6 gene DOID:8283 peritonitis ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:26601826|REF_RGD_ID:14975296 8766282 Il6 interleukin 6 gene DOID:8463 corneal ulcer ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: PMID:12714388|REF_RGD_ID:7829721 8766282 Il6 interleukin 6 gene DOID:8483 retinal artery occlusion ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:19421412|REF_RGD_ID:7829809 8766282 Il6 interleukin 6 gene DOID:8483 retinal artery occlusion susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism>promoter:-174G>C(human) PMID:15604420|REF_RGD_ID:7829798 8766282 Il6 interleukin 6 gene DOID:850 lung disease ISO RGD:10802 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Endotoxemia;protein:increased expression:lung PMID:20639460|REF_RGD_ID:4143256 8766282 Il6 interleukin 6 gene DOID:850 lung disease ISO RGD:10802 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Sepsis PMID:20845074|REF_RGD_ID:4143242 8766282 Il6 interleukin 6 gene DOID:850 lung disease ISO RGD:10802 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury;protein:increased expression:lung PMID:20683250|REF_RGD_ID:4143249 8766282 Il6 interleukin 6 gene DOID:850 lung disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15547537|REF_RGD_ID:5128667 8766282 Il6 interleukin 6 gene DOID:850 lung disease ISO RGD:2901 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Pancreatitis PMID:20709317|REF_RGD_ID:5134961 8766282 Il6 interleukin 6 gene DOID:850 lung disease severity ISO RGD:2901 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:lung PMID:20818231|REF_RGD_ID:4143244 8766282 Il6 interleukin 6 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19573080|REF_RGD_ID:11049165 8766282 Il6 interleukin 6 gene DOID:8567 Hodgkin's lymphoma treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:21466366|REF_RGD_ID:11049168 8766282 Il6 interleukin 6 gene DOID:8574 lichen disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18393961 8766282 Il6 interleukin 6 gene DOID:8632 Kaposi's sarcoma ISO RGD:1352582 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Kaposi's sarcoma PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:18550579|PMID:9769329 8766282 Il6 interleukin 6 gene DOID:8632 Kaposi's sarcoma susceptibility ISO RGD:1352582 D RGD:7240710 20240313 OMIM 8766282 Il6 interleukin 6 gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:2901 D RGD:9068941 20211126 RGD PMID:20501441|REF_RGD_ID:2324672 8766282 Il6 interleukin 6 gene DOID:874 bacterial pneumonia severity ISO RGD:10802 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 8766282 Il6 interleukin 6 gene DOID:8778 Crohn's disease ISO RGD:1352582 D RGD:9068941 20240314 CTD CTD Direct Evidence: marker/mechanism PMID:10700533|PMID:21829567 8766282 Il6 interleukin 6 gene DOID:8778 Crohn's disease susceptibility ISO RGD:1352582 D RGD:7240710 20240313 OMIM 8766282 Il6 interleukin 6 gene DOID:8869 neuromyelitis optica severity ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebral spinal fluid: PMID:20128675|REF_RGD_ID:7829722 8766282 Il6 interleukin 6 gene DOID:8893 psoriasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844318 8766282 Il6 interleukin 6 gene DOID:8927 learning disability disease_progression ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:9037082|REF_RGD_ID:7829733 8766282 Il6 interleukin 6 gene DOID:893 Wilson disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 8766282 Il6 interleukin 6 gene DOID:8947 diabetic retinopathy ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:18988929|REF_RGD_ID:2307272 8766282 Il6 interleukin 6 gene DOID:8947 diabetic retinopathy ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Typpe 1;protein:increased expression:serum: PMID:17725274|REF_RGD_ID:7829749 8766282 Il6 interleukin 6 gene DOID:8947 diabetic retinopathy ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; DNA:polymorphism:promoter:-174G>C (human) PMID:19140096|REF_RGD_ID:2307267 8766282 Il6 interleukin 6 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human) PMID:19542902|REF_RGD_ID:7829816 8766282 Il6 interleukin 6 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27085942|PMID:29691718|REF_RGD_ID:11062150|REF_RGD_ID:14975124 8766282 Il6 interleukin 6 gene DOID:9000053 Headache ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7537110 8766282 Il6 interleukin 6 gene DOID:9000099 Experimental Colitis ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:16630696|REF_RGD_ID:8662978 8766282 Il6 interleukin 6 gene DOID:9000099 Experimental Colitis treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:27096537|REF_RGD_ID:11062146 8766282 Il6 interleukin 6 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:16133010|REF_RGD_ID:11062139 8766282 Il6 interleukin 6 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25443778|REF_RGD_ID:9831197 8766282 Il6 interleukin 6 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:11581077|PMID:8943431|REF_RGD_ID:11060264|REF_RGD_ID:11062107 8766282 Il6 interleukin 6 gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:10802 D RGD:9068941 20230831 RGD PMID:28062499|REF_RGD_ID:329955458 8766282 Il6 interleukin 6 gene DOID:9000197 Edema ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 8766282 Il6 interleukin 6 gene DOID:9000197 Edema ISO RGD:1352582 D RGD:9068941 20200609 RGD diabetic macular edema associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) PMID:19118698|REF_RGD_ID:2306981 8766282 Il6 interleukin 6 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23593346 8766282 Il6 interleukin 6 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25396421 8766282 Il6 interleukin 6 gene DOID:9000310 Lung Injury ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19762220 8766282 Il6 interleukin 6 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 8766282 Il6 interleukin 6 gene DOID:9000469 Viral Myocarditis severity ISO RGD:10802 D RGD:9068941 20231026 RGD mRNA:increased expression:heart (mouse) PMID:25998987|REF_RGD_ID:401850594 8766282 Il6 interleukin 6 gene DOID:9000540 HIV Wasting Syndrome ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8766282 Il6 interleukin 6 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:2901 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8766282 Il6 interleukin 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352582 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:21937440|PMID:26101800 8766282 Il6 interleukin 6 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352582 D RGD:9068941 20210611 RGD associated with stomach cancer, human cells in mouse model PMID:28186964|REF_RGD_ID:127229952 8766282 Il6 interleukin 6 gene DOID:9000972 Fever ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11852909|PMID:15384034|PMID:7537110 8766282 Il6 interleukin 6 gene DOID:9000972 Fever ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:22042912|REF_RGD_ID:7241096 8766282 Il6 interleukin 6 gene DOID:9000998 Brain Injuries ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19800810|PMID:21549006|PMID:23159883 8766282 Il6 interleukin 6 gene DOID:9000998 Brain Injuries ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (rat) PMID:10027774|REF_RGD_ID:11049549 8766282 Il6 interleukin 6 gene DOID:9001103 Heat Stress Disorders ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23993269|REF_RGD_ID:11060279 8766282 Il6 interleukin 6 gene DOID:9001191 Cadmium Poisoning ISO RGD:2901 D RGD:9068941 20200609 RGD in males;protein:increased expression, increased activity:plasma (rat) PMID:19462680|REF_RGD_ID:11060270 8766282 Il6 interleukin 6 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:21492407|REF_RGD_ID:10402827 8766282 Il6 interleukin 6 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28864214 8766282 Il6 interleukin 6 gene DOID:9001488 Human Influenza ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20731583|REF_RGD_ID:4143268 8766282 Il6 interleukin 6 gene DOID:9001542 Albuminuria ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17167242 8766282 Il6 interleukin 6 gene DOID:9001553 Spinal Cord Compression ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, serum PMID:30327453|REF_RGD_ID:14975119 8766282 Il6 interleukin 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10802 D RGD:9068941 20201023 RGD mRNA:increased expression:liver (mouse) PMID:28465467|REF_RGD_ID:39939037 8766282 Il6 interleukin 6 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2901 D RGD:9068941 20220331 RGD PMID:24383550|PMID:30346985|REF_RGD_ID:10450610|REF_RGD_ID:151665755 8766282 Il6 interleukin 6 gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Premature Birth;protein:increased expression:serum: PMID:22906886|REF_RGD_ID:12792208 8766282 Il6 interleukin 6 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 8766282 Il6 interleukin 6 gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:10802 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 8766282 Il6 interleukin 6 gene DOID:9001600 Wounds and Injuries ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 8766282 Il6 interleukin 6 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23305094 8766282 Il6 interleukin 6 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1352582 D RGD:9068941 20220922 RGD protein:increased expression:blood serum (human) PMID:32178736|REF_RGD_ID:155230830 8766282 Il6 interleukin 6 gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:2901 D RGD:9068941 20220922 RGD PMID:32178736|REF_RGD_ID:155230830 8766282 Il6 interleukin 6 gene DOID:9001708 Hemorrhagic Shock ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 8766282 Il6 interleukin 6 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21168948|REF_RGD_ID:5128673 8766282 Il6 interleukin 6 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:16530172|REF_RGD_ID:7829807 8766282 Il6 interleukin 6 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16286589 8766282 Il6 interleukin 6 gene DOID:9002096 Foot Injuries ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18988309|REF_RGD_ID:8662979 8766282 Il6 interleukin 6 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:20643849|REF_RGD_ID:4143255 8766282 Il6 interleukin 6 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:10802 D RGD:9068941 20230629 RGD PMID:34144219|PMID:34400126|REF_RGD_ID:329812011|REF_RGD_ID:329902072 8766282 Il6 interleukin 6 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:10802 D RGD:9068941 20220930 RGD PMID:32155285|REF_RGD_ID:155260323 8766282 Il6 interleukin 6 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:24752458|REF_RGD_ID:11062134 8766282 Il6 interleukin 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:18716362|REF_RGD_ID:2307282 8766282 Il6 interleukin 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney (rat) PMID:19052104|REF_RGD_ID:2307281 8766282 Il6 interleukin 6 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human) PMID:19542902|REF_RGD_ID:7829816 8766282 Il6 interleukin 6 gene DOID:9002211 Hyperalgesia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:18652822|PMID:7582491 8766282 Il6 interleukin 6 gene DOID:9002211 Hyperalgesia ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Foot Injuries; protein:increased expression:serum: PMID:18988309|REF_RGD_ID:8662979 8766282 Il6 interleukin 6 gene DOID:9002211 Hyperalgesia ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:23953943|REF_RGD_ID:10402830 8766282 Il6 interleukin 6 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 8766282 Il6 interleukin 6 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10870116|REF_RGD_ID:11522755 8766282 Il6 interleukin 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15672864|PMID:17196171|PMID:19011039|PMID:19240160|PMID:25970160 8766282 Il6 interleukin 6 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:26339812|REF_RGD_ID:11062109 8766282 Il6 interleukin 6 gene DOID:9002457 Experimental Arthritis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20131233|PMID:20974942|PMID:22450443 8766282 Il6 interleukin 6 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:10381487|REF_RGD_ID:11049553 8766282 Il6 interleukin 6 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:23503893|PMID:24028507|PMID:8607900|REF_RGD_ID:10755447|REF_RGD_ID:11049551|REF_RGD_ID:11060267 8766282 Il6 interleukin 6 gene DOID:9002633 Premature Obstetric Labor ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20610570|PMID:22122352 8766282 Il6 interleukin 6 gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:2901 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 8766282 Il6 interleukin 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401270 8766282 Il6 interleukin 6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:23322593|REF_RGD_ID:12791289 8766282 Il6 interleukin 6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:oligodendrocytes (rat) PMID:9358769|REF_RGD_ID:2307412 8766282 Il6 interleukin 6 gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis ISO RGD:1352582 D RGD:9068941 20240314 CTD CTD Direct Evidence: marker/mechanism 8766282 Il6 interleukin 6 gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis susceptibility ISO RGD:1352582 D RGD:7240710 20240313 OMIM 8766282 Il6 interleukin 6 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:16429448|REF_RGD_ID:7829818 8766282 Il6 interleukin 6 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17617204|REF_RGD_ID:2317166 8766282 Il6 interleukin 6 gene DOID:9003104 Intracranial Hemorrhages susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter -174G>C(human) PMID:15331795|REF_RGD_ID:12792203 8766282 Il6 interleukin 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8766282 Il6 interleukin 6 gene DOID:9003507 Premature Birth ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 8766282 Il6 interleukin 6 gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism: :174G>C(human) PMID:22117975|REF_RGD_ID:12792241 8766282 Il6 interleukin 6 gene DOID:9003688 Toxoplasma Chorioretinitis susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C(human) PMID:23336844|REF_RGD_ID:7829805 8766282 Il6 interleukin 6 gene DOID:9003730 Chemical Burns ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 8766282 Il6 interleukin 6 gene DOID:9003737 Ascorbic Acid Deficiency ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:9566989|REF_RGD_ID:1643102 8766282 Il6 interleukin 6 gene DOID:9003817 Sudden Hearing Loss ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:11189185|REF_RGD_ID:7394753 8766282 Il6 interleukin 6 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.C572G(human) PMID:22385075|REF_RGD_ID:8547982 8766282 Il6 interleukin 6 gene DOID:9003828 Klebsiella Infections treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:8432613|REF_RGD_ID:11062093 8766282 Il6 interleukin 6 gene DOID:9003936 Cardiomegaly ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:15542404|REF_RGD_ID:1581939 8766282 Il6 interleukin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:10802 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20659747|REF_RGD_ID:4143253 8766282 Il6 interleukin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914|PMID:17032661|PMID:18258783|PMID:19673871|PMID:21940958 8766282 Il6 interleukin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:20680426|REF_RGD_ID:4143250 8766282 Il6 interleukin 6 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs1800795 (human) PMID:27812403|REF_RGD_ID:14975294 8766282 Il6 interleukin 6 gene DOID:9004210 Tympanic Membrane Perforation ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:tympanic membrane: PMID:24012216|REF_RGD_ID:8547981 8766282 Il6 interleukin 6 gene DOID:9004484 Sepsis ISO RGD:1352582 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 8766282 Il6 interleukin 6 gene DOID:9004484 Sepsis ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27598601|REF_RGD_ID:14975121 8766282 Il6 interleukin 6 gene DOID:9004484 Sepsis ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:increased expression:liver, extracellular space (rat) PMID:19079684|REF_RGD_ID:2307280 8766282 Il6 interleukin 6 gene DOID:9004484 Sepsis treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:25317848|REF_RGD_ID:11062009 8766282 Il6 interleukin 6 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 8766282 Il6 interleukin 6 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352582 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26101800|PMID:26284488 8766282 Il6 interleukin 6 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27085796|REF_RGD_ID:11062151 8766282 Il6 interleukin 6 gene DOID:9004610 Acute Lung Injury ISO RGD:1352582 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 8766282 Il6 interleukin 6 gene DOID:9004610 Acute Lung Injury ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage, blood, lung (rat) PMID:19995278|REF_RGD_ID:11062103 8766282 Il6 interleukin 6 gene DOID:9004649 Heat Stroke ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8766282 Il6 interleukin 6 gene DOID:9004713 Acute-Phase Reaction ISO RGD:1352582 D RGD:9068941 20200609 RGD human protein in a rat model PMID:7678052|REF_RGD_ID:11060262 8766282 Il6 interleukin 6 gene DOID:9004912 Hyperoxaluria ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 8766282 Il6 interleukin 6 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9032749 8766282 Il6 interleukin 6 gene DOID:9004932 Eales Disease ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22025890|REF_RGD_ID:7829790 8766282 Il6 interleukin 6 gene DOID:9004932 Eales Disease susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C(human) PMID:22025890|REF_RGD_ID:7829790 8766282 Il6 interleukin 6 gene DOID:9004983 Fetal Inflammatory Response Syndrome ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Premature Birth; PMID:24832219|REF_RGD_ID:12801490 8766282 Il6 interleukin 6 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:10802 D RGD:9068941 20200820 RGD mRNA:increased expression:placenta: PMID:21923716|REF_RGD_ID:38501105 8766282 Il6 interleukin 6 gene DOID:9005172 Lung Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26372664 8766282 Il6 interleukin 6 gene DOID:9005372 Inflammation ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:16227999|PMID:19762220|PMID:19803787|PMID:20056584|PMID:20578705|PMID:20816778|PMID:21467745|PMID:23159501|PMID:23371441|PMID:26297436 8766282 Il6 interleukin 6 gene DOID:9005372 Inflammation treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:25319517|REF_RGD_ID:11060261 8766282 Il6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:24582317|REF_RGD_ID:11049554 8766282 Il6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138235 8766282 Il6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:18976114|REF_RGD_ID:2306984 8766282 Il6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:extracellular space (rat) PMID:19328014|REF_RGD_ID:2307252 8766282 Il6 interleukin 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:20555424|REF_RGD_ID:4142788 8766282 Il6 interleukin 6 gene DOID:9005749 Necrosis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7608651 8766282 Il6 interleukin 6 gene DOID:9005882 Spine Osteoarthritis ISO RGD:1352582 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 8766282 Il6 interleukin 6 gene DOID:9005930 Endotoxemia ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:21396682|REF_RGD_ID:5147765 8766282 Il6 interleukin 6 gene DOID:9005930 Endotoxemia ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; Protein:increased expression:extracellular space (rat) PMID:19449282|REF_RGD_ID:2307179 8766282 Il6 interleukin 6 gene DOID:9005930 Endotoxemia ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22227956|REF_RGD_ID:6893482 8766282 Il6 interleukin 6 gene DOID:9006024 Hypotension ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15217654|PMID:15384034 8766282 Il6 interleukin 6 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2901 D RGD:9068941 20230803 RGD associated with pulmonary arterial hypertension PMID:26959484|REF_RGD_ID:329969898 8766282 Il6 interleukin 6 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:10802 D RGD:9068941 20230601 RGD PMID:24920753|REF_RGD_ID:329845564 8766282 Il6 interleukin 6 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:2901 D RGD:9068941 20240208 RGD protein:increased expression:hippocampus (rat) PMID:33390808|REF_RGD_ID:401965467 8766282 Il6 interleukin 6 gene DOID:9006607 Hemifacial Spasm ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:30684712|REF_RGD_ID:14975126 8766282 Il6 interleukin 6 gene DOID:9006646 Metabolic Syndrome ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16644639 8766282 Il6 interleukin 6 gene DOID:9006741 Acute Hepatitis disease_progression ISO RGD:10802 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 8766282 Il6 interleukin 6 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352582 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 8766282 Il6 interleukin 6 gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:10802 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 8766282 Il6 interleukin 6 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352582 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system fluid/secretion PMID:14738241|REF_RGD_ID:5128668 8766282 Il6 interleukin 6 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:11349084|REF_RGD_ID:7829813 8766282 Il6 interleukin 6 gene DOID:9007096 Stroke ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18319729 8766282 Il6 interleukin 6 gene DOID:9007096 Stroke ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:14512079|REF_RGD_ID:1580486 8766282 Il6 interleukin 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16286589 8766282 Il6 interleukin 6 gene DOID:9007271 Hypoalbuminemia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15044820 8766282 Il6 interleukin 6 gene DOID:9007346 Cachexia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 8766282 Il6 interleukin 6 gene DOID:9007346 Cachexia ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Leukemia, T-Cell;protein:increased activity:plasma (rat) PMID:9110147|REF_RGD_ID:11062106 8766282 Il6 interleukin 6 gene DOID:9007355 Hashimoto Disease ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 8766282 Il6 interleukin 6 gene DOID:9007355 Hashimoto Disease ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-572C>G(human) PMID:21235536|REF_RGD_ID:7829719 8766282 Il6 interleukin 6 gene DOID:9007367 Septic Peritonitis ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:19897171|REF_RGD_ID:11062137 8766282 Il6 interleukin 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15763341|PMID:7532385 8766282 Il6 interleukin 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8766282 Il6 interleukin 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8766282 Il6 interleukin 6 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:10802 D RGD:9068941 20200702 RGD PMID:27175332|REF_RGD_ID:32733623 8766282 Il6 interleukin 6 gene DOID:9007480 Hyperoxia ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:20663297|REF_RGD_ID:4143252 8766282 Il6 interleukin 6 gene DOID:9007588 Heart Injuries ameliorates ISO RGD:10802 D RGD:9068941 20230330 RGD associated with obesity PMID:32084395|REF_RGD_ID:242905211 8766282 Il6 interleukin 6 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352582 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:23593346|PMID:26101800 8766282 Il6 interleukin 6 gene DOID:9007692 Insulin Resistance ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat) PMID:19328014|REF_RGD_ID:2307252 8766282 Il6 interleukin 6 gene DOID:9007692 Insulin Resistance ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:islet of Langerhans PMID:21826222|REF_RGD_ID:10402828 8766282 Il6 interleukin 6 gene DOID:9007730 Burns ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10431976|PMID:18277951 8766282 Il6 interleukin 6 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2901 D RGD:9068941 20230824 RGD PMID:11959089|PMID:22079846|REF_RGD_ID:11062110|REF_RGD_ID:401794136 8766282 Il6 interleukin 6 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2901 D RGD:9068941 20220929 RGD PMID:27087891|PMID:31583047|REF_RGD_ID:11062149|REF_RGD_ID:155230831 8766282 Il6 interleukin 6 gene DOID:9007925 Sudden Cardiac Death susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:23906927|REF_RGD_ID:12792237 8766282 Il6 interleukin 6 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:10802 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 8766282 Il6 interleukin 6 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1352582 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:36108500 8766282 Il6 interleukin 6 gene DOID:9008414 Pulmonary Contusion ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid (rat) PMID:16044083|REF_RGD_ID:11060268 8766282 Il6 interleukin 6 gene DOID:9008523 Subretinal Fibrosis ISO RGD:10802 D RGD:9068941 20200609 RGD PMID:24790857|REF_RGD_ID:10402815 8766282 Il6 interleukin 6 gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 8766282 Il6 interleukin 6 gene DOID:9008652 Postoperative Atrial Fibrillation disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:18946567|REF_RGD_ID:9495910 8766282 Il6 interleukin 6 gene DOID:9008691 Liver Injury ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:16549690|REF_RGD_ID:11060263 8766282 Il6 interleukin 6 gene DOID:9008691 Liver Injury treatment ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:27109160|REF_RGD_ID:11062142 8766282 Il6 interleukin 6 gene DOID:9008763 Femoral Fractures ISO RGD:2901 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 8766282 Il6 interleukin 6 gene DOID:9008824 Sarcopenia ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:12919235|REF_RGD_ID:10045859 8766282 Il6 interleukin 6 gene DOID:9008865 Entamoebiasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 8766282 Il6 interleukin 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992|PMID:19435922|PMID:19446661 8766282 Il6 interleukin 6 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with obesity;DNA:polymorphism:promoter:-174G>C(human) PMID:11426023|REF_RGD_ID:7829718 8766282 Il6 interleukin 6 gene DOID:9008967 Brain Concussion treatment ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:27113205|REF_RGD_ID:11062140 8766282 Il6 interleukin 6 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500730 8766282 Il6 interleukin 6 gene DOID:9065 leishmaniasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374 8766282 Il6 interleukin 6 gene DOID:9074 systemic lupus erythematosus ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18158872 8766282 Il6 interleukin 6 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1352582 D RGD:9068941 20200609 RGD PMID:23357299|REF_RGD_ID:11046264 8766282 Il6 interleukin 6 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1352582 D RGD:9068941 20200609 RGD human protein in a rat model PMID:8892684|REF_RGD_ID:11062010 8766282 Il6 interleukin 6 gene DOID:9146 visceral leishmaniasis ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404324|PMID:22461696|PMID:7554475 8766282 Il6 interleukin 6 gene DOID:9256 colorectal cancer ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-174G>C (human) PMID:28349833|REF_RGD_ID:14975287 8766282 Il6 interleukin 6 gene DOID:9351 diabetes mellitus ISO RGD:10802 D RGD:9068941 20200609 RGD mRNA:decreased expression:dendritic cell (mouse) PMID:19120268|REF_RGD_ID:2307278 8766282 Il6 interleukin 6 gene DOID:9351 diabetes mellitus ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Dementia; protein:increased expression:brain (human) PMID:19139294|REF_RGD_ID:2307273 8766282 Il6 interleukin 6 gene DOID:9351 diabetes mellitus ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:extracellular space (human) PMID:19442860|REF_RGD_ID:2307180 8766282 Il6 interleukin 6 gene DOID:9351 diabetes mellitus susceptibility ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-174G>C (human) PMID:18689695|REF_RGD_ID:2307293 8766282 Il6 interleukin 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352582 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:18550579|PMID:9769329 8766282 Il6 interleukin 6 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1352582 D RGD:7240710 20240313 OMIM 8766282 Il6 interleukin 6 gene DOID:9402 epididymitis ISO RGD:2901 D RGD:9068941 20200609 RGD PMID:29311626|REF_RGD_ID:13792835 8766282 Il6 interleukin 6 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2901 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8766282 Il6 interleukin 6 gene DOID:9452 steatotic liver disease ISO RGD:10802 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse) PMID:19205029|REF_RGD_ID:2307258 8766282 Il6 interleukin 6 gene DOID:9452 steatotic liver disease ISO RGD:2901 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat) PMID:19076162|REF_RGD_ID:2307264 8766282 Il6 interleukin 6 gene DOID:9538 multiple myeloma ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12855565|PMID:19330649|PMID:8520508 8766282 Il6 interleukin 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352582 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 8766282 Il6 interleukin 6 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1352582 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:1800167|REF_RGD_ID:7829748 8766282 Il6 interleukin 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1352582 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to PMID:10720087|PMID:11001912|PMID:11889177|PMID:12519862|PMID:12560873|PMID:12719374|PMID:15070960|PMID:15331795|PMID:15472205|PMID:16150725|PMID:16278864|PMID:17623760|PMID:18550579|PMID:9769329 8766282 Il6 interleukin 6 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1352582 D RGD:7240710 20240313 OMIM 8766282 Il6 interleukin 6 gene DOID:9970 obesity ISO RGD:1352582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20141834|PMID:24042701 8766282 Il6 interleukin 6 gene DOID:9970 obesity ISO RGD:1352582 D RGD:9068941 20200609 RGD DNA:polymorphism>promoter:174G>C PMID:16493118|REF_RGD_ID:1601582 8766282 Il6 interleukin 6 gene DOID:9970 obesity ISO RGD:1352582 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human) PMID:19228869|REF_RGD_ID:2307257 8766282 Il6 interleukin 6 gene DOID:9970 obesity ISO RGD:2901 D RGD:9068941 20200609 RGD mRNA:increased expression:islet of Langerhans PMID:21826222|REF_RGD_ID:10402828 8766291 Lrch1 leucine rich repeats and calponin homology domain containing 1 gene DOID:2377 multiple sclerosis ISO RGD:1558043 D RGD:9068941 20220825 MouseDO OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 8766291 Lrch1 leucine rich repeats and calponin homology domain containing 1 gene DOID:630 genetic disease ISO RGD:1313845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766291 Lrch1 leucine rich repeats and calponin homology domain containing 1 gene DOID:9007096 Stroke ISO RGD:1313845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8766323 Slit3 slit guidance ligand 3 gene DOID:0060224 atrial fibrillation ISO RGD:733245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8766323 Slit3 slit guidance ligand 3 gene DOID:0111951 immunodeficiency 40 ISO RGD:733245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 8766323 Slit3 slit guidance ligand 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69311 D RGD:9068941 20230406 RGD mRNA:increased expression:lung PMID:19944214|REF_RGD_ID:243048459 8766323 Slit3 slit guidance ligand 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:735860 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 8766323 Slit3 slit guidance ligand 3 gene DOID:630 genetic disease ISO RGD:733245 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8766323 Slit3 slit guidance ligand 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735860 D RGD:9068941 20200609 RGD PMID:16262652|REF_RGD_ID:2316136 8766323 Slit3 slit guidance ligand 3 gene DOID:9000998 Brain Injuries ISO RGD:69311 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 8766323 Slit3 slit guidance ligand 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:733245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 8766378 St13 ST13 Hsp70 interacting protein gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8766378 St13 ST13 Hsp70 interacting protein gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:733794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CREBBP-related condition PMID:15706485|PMID:24476420|PMID:28492532 8766378 St13 ST13 Hsp70 interacting protein gene DOID:630 genetic disease ISO RGD:733794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766424 Znf518a zinc finger protein 518A gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1348764 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:10583958|PMID:17576681|PMID:24582315|PMID:25741868|PMID:28492532|PMID:9536098 8766424 Znf518a zinc finger protein 518A gene DOID:630 genetic disease ISO RGD:1348764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8766447 Mmd monocyte to macrophage differentiation associated gene DOID:630 genetic disease ISO RGD:1346726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766447 Mmd monocyte to macrophage differentiation associated gene DOID:9074 systemic lupus erythematosus ISO RGD:1346726 D RGD:9068941 20221027 RGD associated with Pregnancy Complications;mRNA:increased expression:blood (human) PMID:31684818|REF_RGD_ID:155630630 8766488 Sim2 SIM bHLH transcription factor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8766488 Sim2 SIM bHLH transcription factor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1317540 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8766488 Sim2 SIM bHLH transcription factor 2 gene DOID:1826 epilepsy ISO RGD:1317540 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8766488 Sim2 SIM bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:1317540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766488 Sim2 SIM bHLH transcription factor 2 gene DOID:674 cleft palate ISO RGD:1317540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203729 8766488 Sim2 SIM bHLH transcription factor 2 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1317540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 8766488 Sim2 SIM bHLH transcription factor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203729 8766503 Fbxo47 F-box protein 47 gene DOID:630 genetic disease ISO RGD:1606618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766535 Pcmtd2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 gene DOID:630 genetic disease ISO RGD:1313858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766547 Sec13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:630 genetic disease ISO RGD:1344614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766547 Sec13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8766547 Sec13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1344614 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 8766547 Sec13 SEC13 homolog, nuclear pore and COPII coat complex component gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1344614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8766579 Mta3 metastasis associated 1 family member 3 gene DOID:3883 Lynch syndrome ISO RGD:1315624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8766579 Mta3 metastasis associated 1 family member 3 gene DOID:630 genetic disease ISO RGD:1315624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766579 Mta3 metastasis associated 1 family member 3 gene DOID:9007661 Dwarfism ISO RGD:1315624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8766605 Kif1c kinesin family member 1C gene DOID:0050753 cerebellar ataxia ISO RGD:731799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:32581362 8766605 Kif1c kinesin family member 1C gene DOID:0050941 spastic ataxia 2 ISO RGD:731799 D RGD:7240710 20180130 OMIM 8766605 Kif1c kinesin family member 1C gene DOID:0050941 spastic ataxia 2 ISO RGD:731799 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:16199547|PMID:17273843|PMID:17576681|PMID:24319291|PMID:24482476|PMID:24808017|PMID:25741868|PMID:26633545|PMID:27666373|PMID:28492532|PMID:28687974|PMID:28832565|PMID:29482223|PMID:30067756|PMID:32501971|PMID:34270679|PMID:35961316|PMID:9536098 8766605 Kif1c kinesin family member 1C gene DOID:0050952 spastic ataxia ISO RGD:731799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 8766605 Kif1c kinesin family member 1C gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:731799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 8766605 Kif1c kinesin family member 1C gene DOID:1059 intellectual disability ISO RGD:731799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 8766605 Kif1c kinesin family member 1C gene DOID:10907 microcephaly ISO RGD:731799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8766605 Kif1c kinesin family member 1C gene DOID:2476 hereditary spastic paraplegia ISO RGD:731799 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:24482476|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28832565|PMID:29482223|PMID:9536098 8766605 Kif1c kinesin family member 1C gene DOID:630 genetic disease ISO RGD:731799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8766639 Hipk2 homeodomain interacting protein kinase 2 gene DOID:11664 nephrosclerosis ISO RGD:1319649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 8766639 Hipk2 homeodomain interacting protein kinase 2 gene DOID:5199 ureteral obstruction ISO RGD:1319649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 8766639 Hipk2 homeodomain interacting protein kinase 2 gene DOID:630 genetic disease ISO RGD:1319649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766639 Hipk2 homeodomain interacting protein kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8766688 Ccne2 cyclin E2 gene DOID:0080909 castration-resistant prostate carcinoma treatment ISO RGD:1317175 D RGD:9068941 20200609 RGD PMID:27431942|REF_RGD_ID:13504681 8766688 Ccne2 cyclin E2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8766688 Ccne2 cyclin E2 gene DOID:1790 malignant mesothelioma ISO RGD:1317175 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8766688 Ccne2 cyclin E2 gene DOID:2526 prostate adenocarcinoma ISO RGD:1317176 D RGD:9068941 20200609 RGD PMID:25315431|REF_RGD_ID:13504706 8766688 Ccne2 cyclin E2 gene DOID:289 endometriosis ISO RGD:1317175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8766688 Ccne2 cyclin E2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 8766688 Ccne2 cyclin E2 gene DOID:630 genetic disease ISO RGD:1317175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766703 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:0110225 Brugada syndrome 8 ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 8766703 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317726 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 8766703 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:2717 Bloom syndrome ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8766703 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:3320 Tay-Sachs disease ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8766703 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:3627 aortic aneurysm ISO RGD:1317726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:28492532|PMID:29689197 8766703 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1317726 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8766703 Arih1 ariadne RBR E3 ubiquitin protein ligase 1 gene DOID:9256 colorectal cancer ISO RGD:1317726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8766720 Trip12 thyroid hormone receptor interactor 12 gene DOID:0080234 Clark-Baraitser syndrome ISO RGD:1315318 D RGD:7240710 20190315 OMIM 8766720 Trip12 thyroid hormone receptor interactor 12 gene DOID:0080234 Clark-Baraitser syndrome ISO RGD:1315318 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Clark-Baraitser syndrome | ClinVar Annotator: match by term: TRIP12-related condition PMID:25363768|PMID:25741868|PMID:27848077|PMID:28251352|PMID:28660352|PMID:29758562|PMID:31814248|PMID:3812552 8766720 Trip12 thyroid hormone receptor interactor 12 gene DOID:10283 prostate cancer ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8766720 Trip12 thyroid hormone receptor interactor 12 gene DOID:1059 intellectual disability ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 8766720 Trip12 thyroid hormone receptor interactor 12 gene DOID:630 genetic disease ISO RGD:1315318 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20676075|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 8766720 Trip12 thyroid hormone receptor interactor 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8766720 Trip12 thyroid hormone receptor interactor 12 gene DOID:9008582 Developmental Disease ISO RGD:1315318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8766793 Tmem54 transmembrane protein 54 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8766793 Tmem54 transmembrane protein 54 gene DOID:630 genetic disease ISO RGD:1606187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766803 Nox4 NADPH oxidase 4 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis susceptibility ISO RGD:620600 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 8766803 Nox4 NADPH oxidase 4 gene DOID:1059 intellectual disability ISO RGD:731542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8766803 Nox4 NADPH oxidase 4 gene DOID:1074 kidney failure ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23325087 8766803 Nox4 NADPH oxidase 4 gene DOID:10763 hypertension ISO RGD:620600 D RGD:9068941 20200609 RGD PMID:26644237|REF_RGD_ID:11085830 8766803 Nox4 NADPH oxidase 4 gene DOID:10763 hypertension ISO RGD:620600 D RGD:9068941 20200609 RGD protein:increased expression:aorta, vascular associated smooth muscle cell PMID:18418428|REF_RGD_ID:2324669 8766803 Nox4 NADPH oxidase 4 gene DOID:10763 hypertension ISO RGD:731542 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:27847271|PMID:32147540 8766803 Nox4 NADPH oxidase 4 gene DOID:2316 brain ischemia ISO RGD:731543 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (human) PMID:15802177|REF_RGD_ID:1580980 8766803 Nox4 NADPH oxidase 4 gene DOID:6000 congestive heart failure ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 8766803 Nox4 NADPH oxidase 4 gene DOID:630 genetic disease ISO RGD:731542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766803 Nox4 NADPH oxidase 4 gene DOID:6432 pulmonary hypertension ISO RGD:731543 D RGD:9068941 20200609 RGD associated with Anoxia;mRNA, protein:increased expression:lung PMID:18952568|REF_RGD_ID:4762683 8766803 Nox4 NADPH oxidase 4 gene DOID:783 end stage renal disease ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 8766803 Nox4 NADPH oxidase 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620600 D RGD:9068941 20230622 RGD mRNA,protein:increased expression:gastrocnemius muscle PMID:27998200|REF_RGD_ID:329853757 8766803 Nox4 NADPH oxidase 4 gene DOID:9000998 Brain Injuries ISO RGD:731542 D RGD:9068941 20231207 CTD CTD Direct Evidence: therapeutic PMID:36762617 8766803 Nox4 NADPH oxidase 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8766803 Nox4 NADPH oxidase 4 gene DOID:9001665 Aneurysm ISO RGD:620600 D RGD:9068941 20200609 RGD PMID:19620512|REF_RGD_ID:2324659 8766803 Nox4 NADPH oxidase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620600 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16135519|REF_RGD_ID:2324673 8766803 Nox4 NADPH oxidase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620600 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney cortex PMID:17511984|REF_RGD_ID:2324670 8766803 Nox4 NADPH oxidase 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20715105 8766803 Nox4 NADPH oxidase 4 gene DOID:9004009 Reperfusion Injury ISO RGD:620600 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:18438942|REF_RGD_ID:2324666 8766803 Nox4 NADPH oxidase 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620600 D RGD:9068941 20200609 RGD associated with hypertension PMID:23850346|REF_RGD_ID:13703040 8766803 Nox4 NADPH oxidase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620600 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:19686728|REF_RGD_ID:2324658 8766803 Nox4 NADPH oxidase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8766803 Nox4 NADPH oxidase 4 gene DOID:9452 steatotic liver disease treatment ISO RGD:620600 D RGD:9068941 20240201 RGD PMID:30298849|REF_RGD_ID:401960083 8766803 Nox4 NADPH oxidase 4 gene DOID:9970 obesity treatment ISO RGD:620600 D RGD:9068941 20240201 RGD PMID:30298849|REF_RGD_ID:401960083 8766837 Rorb RAR related orphan receptor B gene DOID:0111316 idiopathic generalized epilepsy 15 ISO RGD:1315588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 15 PMID:16199547|PMID:25356972|PMID:25741868|PMID:27352968|PMID:28492532 8766837 Rorb RAR related orphan receptor B gene DOID:0111316 idiopathic generalized epilepsy 15 susceptibility ISO RGD:1315588 D RGD:7240710 20190904 OMIM 8766837 Rorb RAR related orphan receptor B gene DOID:1826 epilepsy ISO RGD:1315588 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8766837 Rorb RAR related orphan receptor B gene DOID:289 endometriosis ISO RGD:1315588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8766837 Rorb RAR related orphan receptor B gene DOID:630 genetic disease ISO RGD:1315588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356972|PMID:27352968|PMID:28492532 8766837 Rorb RAR related orphan receptor B gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1315588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:25950944 8766851 Iho1 interactor of HORMAD1 1 gene DOID:0060852 Pierson syndrome ISO RGD:1605539 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 8766851 Iho1 interactor of HORMAD1 1 gene DOID:630 genetic disease ISO RGD:1605539 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766851 Iho1 interactor of HORMAD1 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1605539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8766865 Cbx1 chromobox 1 gene DOID:10283 prostate cancer ISO RGD:1321782 D RGD:9068941 20200609 RGD protein:increased expression:prostate: PMID:18436254|REF_RGD_ID:9586744 8766865 Cbx1 chromobox 1 gene DOID:630 genetic disease ISO RGD:1321782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766865 Cbx1 chromobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8766878 Prpf18 pre-mRNA processing factor 18 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:731692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8766878 Prpf18 pre-mRNA processing factor 18 gene DOID:630 genetic disease ISO RGD:731692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766906 Fsip1 fibrous sheath interacting protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1315740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8766906 Fsip1 fibrous sheath interacting protein 1 gene DOID:630 genetic disease ISO RGD:1315740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766906 Fsip1 fibrous sheath interacting protein 1 gene DOID:9256 colorectal cancer ISO RGD:1315740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8766970 Srek1 splicing regulatory glutamic acid and lysine rich protein 1 gene DOID:630 genetic disease ISO RGD:1352789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8766970 Srek1 splicing regulatory glutamic acid and lysine rich protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8767039 Spaca7 sperm acrosome associated 7 gene DOID:2222 factor X deficiency ISO RGD:1606982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8767039 Spaca7 sperm acrosome associated 7 gene DOID:630 genetic disease ISO RGD:1606982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767056 Znf329 zinc finger protein 329 gene DOID:630 genetic disease ISO RGD:1348045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767068 Pih1d1 PIH1 domain containing 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1605995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8767068 Pih1d1 PIH1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1605995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1607087 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria PMID:10220445|PMID:8167330|PMID:8500164|PMID:8541558|PMID:8557259|PMID:9019395|PMID:9233558|PMID:9787183 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:11100 D RGD:9068941 20220825 MouseDO OMIM:242500 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1607087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1607087 D RGD:7240710 20180130 OMIM 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1607087 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:10087994|PMID:15307104|PMID:17576681|PMID:19377476|PMID:22305531|PMID:24259184|PMID:24259288|PMID:24357517|PMID:24706016|PMID:24759409|PMID:25326635|PMID:25590979|PMID:25741868|PMID:26467025|PMID:26545172|PMID:27353043|PMID:28133863|PMID:28441409|PMID:28492532|PMID:2915993|PMID:29159939|PMID:29310717|PMID:29314583|PMID:29656098|PMID:31164858|PMID:31175295|PMID:31618474|PMID:31704190|PMID:32176464|PMID:32220244|PMID:32452540|PMID:32694024|PMID:33333793|PMID:33763700|PMID:34355501|PMID:34782754|PMID:8541557|PMID:8599356|PMID:8652378|PMID:9307258|PMID:9536098 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:1059 intellectual disability ISO RGD:1607087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:12849 autistic disorder ISO RGD:1607087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:13636 Fanconi anemia ISO RGD:1607087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:630 genetic disease ISO RGD:1607087 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10087994|PMID:15307104|PMID:24357517|PMID:24706016|PMID:25741868|PMID:26467025|PMID:28492532|PMID:2915993|PMID:29159939|PMID:29314583|PMID:31164858|PMID:32176464|PMID:8541557|PMID:8652378 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9001793 Generalized Epilepsy ISO RGD:1607087 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9004285 Paroxysmal Nocturnal Hemoglobinuria 1 ISO RGD:1607087 D RGD:7240710 20220727 OMIM 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9004285 Paroxysmal Nocturnal Hemoglobinuria 1 ISO RGD:1607087 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 PMID:25741868|PMID:28492532|PMID:31704190|PMID:32452540|PMID:34355501 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9005463 Occupational Diseases ISO RGD:1607087 D RGD:9068941 20231102 CTD CTD Direct Evidence: marker/mechanism PMID:37271276 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9008096 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS ISO RGD:1607087 D RGD:7240710 20220706 OMIM 8767103 Piga phosphatidylinositol glycan anchor biosynthesis class A gene DOID:9008096 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS ISO RGD:1607087 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hemochromatosis PMID:24259288|PMID:34875027 8767119 Msh2 mutS homolog 2 gene DOID:0050465 Muir-Torre syndrome ISO RGD:732745 D RGD:7240710 20180130 OMIM 8767119 Msh2 mutS homolog 2 gene DOID:0050465 Muir-Torre syndrome ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome PMID:10080150|PMID:10323887|PMID:10375096|PMID:10397236|PMID:10874307|PMID:11151427|PMID:11291077|PMID:11601928|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12624141|PMID:14994245|PMID:15235030|PMID:15254659|PMID:15655560|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15942939|PMID:16216036|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16807412|PMID:16830052|PMID:16996571|PMID:17192056|PMID:17250661|PMID:17312306|PMID:17473388|PMID:17569143|PMID:17720936|PMID:18033691|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18772310|PMID:18781192|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19731080|PMID:20007843|PMID:20176959|PMID:21120944|PMID:21387278|PMID:21598002|PMID:21642682|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:22034109|PMID:22290698|PMID:22322191|PMID:22480969|PMID:22581703|PMID:23047549|PMID:23170986|PMID:23229822|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24474082|PMID:24506336|PMID:24549055|PMID:24763289|PMID:24851142|PMID:24933000|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25194673|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25639900|PMID:25741868|PMID:26094658|PMID:26096739|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26878173|PMID:26951660|PMID:27328445|PMID:27329137|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27863258|PMID:28195393|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28640387|PMID:28767289|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29625052|PMID:29706558|PMID:29887214|PMID:29889250|PMID:29967336|PMID:30093976|PMID:30131383|PMID:30238922|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30521064|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31162827|PMID:31297992|PMID:31391288|PMID:31491536|PMID:31569399|PMID:31615790|PMID:31660093|PMID:31742824|PMID:32075053|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32809219|PMID:32832836|PMID:33357406|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33606809|PMID:33630411|PMID:33827469|PMID:33848333|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34761457|PMID:35245693|PMID:35264596|PMID:36451132|PMID:36672847|PMID:36845387|PMID:6096739|PMID:7585065|PMID:7713503|PMID:8566964|PMID:8592341|PMID:9002677|PMID:9217825|PMID:9288790|PMID:9718327 8767119 Msh2 mutS homolog 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:732746 D RGD:9068941 20210430 RGD PMID:11604476|REF_RGD_ID:126790556 8767119 Msh2 mutS homolog 2 gene DOID:0060180 colitis ISO RGD:620786 D RGD:9068941 20200609 RGD PMID:23883737|REF_RGD_ID:10412318 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:7240710 20180130 OMIM 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22581703|PMID:22585170|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:2695166|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33471991|PMID:33630411|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31857677|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31857677|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33848333|PMID:33850299 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:22581703|PMID:22585170|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32809219|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31444830|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11839723|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22120844 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31444830|PMID:31491536|PMID:31494577|PMID:31512090 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11839723|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17661183|PMID:17665423|PMID:17720936|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22120844|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29506128|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29961768|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35676339|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:27468915|PMID:27487738|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:34330892|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34680242|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35370679|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36243179|PMID:36359527|PMID:36421850|PMID:36451132|PMID:3658675|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333 8767119 Msh2 mutS homolog 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35370679|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37262986|PMID:37314251|PMID:580563|PMID:6096739|PMID:625353|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 8767119 Msh2 mutS homolog 2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:732745 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MMR DEFICIENCY PMID:10080150|PMID:10323887|PMID:10375096|PMID:11151427|PMID:11291077|PMID:11601928|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12624141|PMID:15235030|PMID:15254659|PMID:15655560|PMID:15849733|PMID:15855432|PMID:15872200|PMID:16216036|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16830052|PMID:16996571|PMID:17192056|PMID:17312306|PMID:17473388|PMID:17569143|PMID:17720936|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18772310|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19731080|PMID:20007843|PMID:20176959|PMID:21120944|PMID:21387278|PMID:21598002|PMID:21642682|PMID:21788563|PMID:21868491|PMID:21926548|PMID:22034109|PMID:22290698|PMID:22581703|PMID:23047549|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24474082|PMID:24506336|PMID:24549055|PMID:24763289|PMID:24851142|PMID:24933000|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26094658|PMID:26096739|PMID:26250988|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26878173|PMID:26951660|PMID:27328445|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27863258|PMID:28195393|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28640387|PMID:28767289|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29887214|PMID:29889250|PMID:29967336|PMID:30093976|PMID:30131383|PMID:30238922|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30521064|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31162827|PMID:31297992|PMID:31391288|PMID:31491536|PMID:31569399|PMID:31615790|PMID:31660093|PMID:31742824|PMID:32075053|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32832836|PMID:33357406|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33606809|PMID:33630411|PMID:33848333|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34761457|PMID:35245693|PMID:35264596|PMID:36672847|PMID:36845387|PMID:6096739|PMID:8566964|PMID:8592341|PMID:9288790 8767119 Msh2 mutS homolog 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:16217293|REF_RGD_ID:2293513 8767119 Msh2 mutS homolog 2 gene DOID:10534 stomach cancer ISO RGD:732745 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10196371|PMID:10793088|PMID:10874307|PMID:11859205|PMID:11920650|PMID:12362047|PMID:12624141|PMID:12658575|PMID:14970868|PMID:15235030|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15855432|PMID:16143124|PMID:16451135|PMID:16639607|PMID:17312306|PMID:17414604|PMID:17453009|PMID:18033691|PMID:18781192|PMID:19459153|PMID:19698169|PMID:20223024|PMID:20587412|PMID:20591884|PMID:21239990|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21681552|PMID:21837758|PMID:21868491|PMID:22883484|PMID:23047549|PMID:24240112|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24710284|PMID:25117503|PMID:25430799|PMID:25569433|PMID:25639900|PMID:25648859|PMID:25741868|PMID:26446363|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26824983|PMID:27016151|PMID:27432916|PMID:27449771|PMID:27863258|PMID:28050010|PMID:28127413|PMID:28492532|PMID:28514183|PMID:28724667|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29238914|PMID:29752822|PMID:30044143|PMID:30376427|PMID:31054147|PMID:31207149|PMID:31857677|PMID:32068069|PMID:33015532|PMID:33357406|PMID:33471991|PMID:35402282|PMID:36073783|PMID:36522531|PMID:36988593|PMID:8062247|PMID:8261515|PMID:9288790|PMID:9634524|PMID:9718327 8767119 Msh2 mutS homolog 2 gene DOID:11054 urinary bladder cancer ISO RGD:732745 D RGD:9068941 20200609 RGD DNA:mutation PMID:18389386|REF_RGD_ID:2293502 8767119 Msh2 mutS homolog 2 gene DOID:11054 urinary bladder cancer ISO RGD:732745 D RGD:9068941 20210430 RGD DNA:mutations: :multiple PMID:26385421|REF_RGD_ID:126790580 8767119 Msh2 mutS homolog 2 gene DOID:11054 urinary bladder cancer ISO RGD:732745 D RGD:9068941 20210430 RGD associated with Lynch syndrome PMID:22883484|REF_RGD_ID:126790557 8767119 Msh2 mutS homolog 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732745 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18254781|REF_RGD_ID:2293503 8767119 Msh2 mutS homolog 2 gene DOID:1115 sarcoma ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:16395668|PMID:18383312|PMID:19389263|PMID:22290698|PMID:24033266|PMID:25085752|PMID:25741868|PMID:26094658|PMID:26250988|PMID:26467025|PMID:26580448|PMID:28492532|PMID:29458332|PMID:30093976|PMID:30131383|PMID:30998989|PMID:31391288|PMID:31569399|PMID:33357406|PMID:33471991|PMID:34426522|PMID:35264596 8767119 Msh2 mutS homolog 2 gene DOID:11832 visual epilepsy ISO RGD:620786 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, neuron PMID:10625070|REF_RGD_ID:2293528 8767119 Msh2 mutS homolog 2 gene DOID:12192 sigmoid colon cancer ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:10495924|PMID:12658575|PMID:15849733|PMID:17312306|PMID:18566915|PMID:20215533|PMID:23741719|PMID:24323032|PMID:24362816|PMID:25117503|PMID:25648859|PMID:25741868|PMID:26177554|PMID:26659639|PMID:27013479|PMID:27601186|PMID:28492532|PMID:28790115|PMID:31162827|PMID:33977078|PMID:34680242 8767119 Msh2 mutS homolog 2 gene DOID:12858 Huntington's disease onset ISO RGD:732746 D RGD:9068941 20200609 RGD PMID:12554681|REF_RGD_ID:10412317 8767119 Msh2 mutS homolog 2 gene DOID:1324 lung cancer susceptibility ISO RGD:732745 D RGD:9068941 20210507 RGD DNA:SNP: :rs2303425 (human) PMID:25252909|REF_RGD_ID:126848798 8767119 Msh2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10404063|PMID:10413423|PMID:10446963|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10793088|PMID:10978353|PMID:10995807|PMID:11151427|PMID:11291077|PMID:11691782|PMID:11772966|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920650|PMID:11975096|PMID:12112654|PMID:12115348|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14574162|PMID:14574163|PMID:14970868|PMID:15075785|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15516845|PMID:15520224|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16034045|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17350822|PMID:17414604|PMID:17440950|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18772310|PMID:18822302|PMID:18951462|PMID:18951465|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19685281|PMID:19698169|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20850175|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21387278|PMID:21419771|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:22039344|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23612316|PMID:23741719|PMID:23760103|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24396821|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24933000|PMID:24933100|PMID:25025451|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26096739|PMID:26177554|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26824983|PMID:26898890|PMID:26900293|PMID:26951660|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27273229|PMID:27328445|PMID:27601186|PMID:27696107|PMID:27720647|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28779002|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29345684|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29887214|PMID:29967336|PMID:30019097|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30376427|PMID:30521064|PMID:30877237|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31265121|PMID:31569399|PMID:31615790|PMID:31857677|PMID:32019277|PMID:32068069|PMID:32075053 8767119 Msh2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:32090079|PMID:32283892|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32660107|PMID:32885271|PMID:32957588|PMID:33015532|PMID:33357406|PMID:33471991|PMID:33746161|PMID:34347074|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8574961|PMID:8592341|PMID:8872463|PMID:8895729|PMID:9002677|PMID:9125109|PMID:9288790|PMID:9311737|PMID:9536098|PMID:9621522|PMID:9718327 8767119 Msh2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10404063|PMID:10413423|PMID:10446963|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10793088|PMID:10978353|PMID:10995807|PMID:11151427|PMID:11291077|PMID:11691782|PMID:11772966|PMID:11870161|PMID:11910346|PMID:11920650|PMID:11975096|PMID:12112654|PMID:12115348|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14574162|PMID:14574163|PMID:14970868|PMID:15075785|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15516845|PMID:15520224|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15959913|PMID:15996210|PMID:16034045|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16807412|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17350822|PMID:17414604|PMID:17440950|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18415027|PMID:18460031|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18772310|PMID:18822302|PMID:18951462|PMID:18951465|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19685281|PMID:19698169|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20850175|PMID:20937110|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:21868491|PMID:21879275|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22516243|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23612316|PMID:23690608|PMID:23741719|PMID:23760103|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24090359|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24396821|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24933000|PMID:24933100|PMID:25025451|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25307252|PMID:25430799|PMID:25525159|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25795746|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26096739|PMID:26177554|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26824983|PMID:26898890|PMID:26900293|PMID:26951660|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27498913|PMID:27601186|PMID:27696107|PMID:27720647|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28779002|PMID:28790115|PMID:28828701|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29345684|PMID:29506128|PMID:29575718|PMID:29596542|PMID:29684080 8767119 Msh2 mutS homolog 2 gene DOID:1520 colon carcinoma ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:29731845|PMID:29752822|PMID:29887214|PMID:29961768|PMID:29967336|PMID:30019097|PMID:30093976|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30376427|PMID:30521064|PMID:30553995|PMID:30702970|PMID:30787465|PMID:30875412|PMID:30877237|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31265121|PMID:31332305|PMID:31391288|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31569399|PMID:31615790|PMID:31857677|PMID:31948886|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32283892|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32658311|PMID:32660107|PMID:32885271|PMID:32957588|PMID:33015532|PMID:33357406|PMID:33414168|PMID:33471991|PMID:33484353|PMID:33726816|PMID:33746161|PMID:33977078|PMID:34178123|PMID:34326862|PMID:34347074|PMID:34680242|PMID:35676339|PMID:35734982|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36421850|PMID:36522531|PMID:36988593|PMID:37088804|PMID:6096739|PMID:625353|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8640829|PMID:8872463|PMID:8895729|PMID:9002677|PMID:9125109|PMID:9222765|PMID:9288790|PMID:9311737|PMID:9536098|PMID:9621522|PMID:9718327|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22585170|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31569399|PMID:32255556|PMID:32338768|PMID:32566746|PMID:32658311|PMID:32986223|PMID:33471991|PMID:8613431|PMID:9718327 8767119 Msh2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22585170|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31569399|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34755017|PMID:8613431|PMID:9718327 8767119 Msh2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34755017|PMID:8613431|PMID:9718327 8767119 Msh2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34755017|PMID:8613431|PMID:9718327 8767119 Msh2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34250417|PMID:34755017|PMID:35884469|PMID:36113988|PMID:8613431|PMID:9718327 8767119 Msh2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:31660093|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32741062|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32926152|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33580181|PMID:33848333|PMID:34117267|PMID:34250417|PMID:34326862|PMID:34426522|PMID:34755017|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36113988|PMID:36451132|PMID:36672847|PMID:8613431|PMID:8700523|PMID:9259192|PMID:9718327 8767119 Msh2 mutS homolog 2 gene DOID:1612 breast cancer ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:31660093|PMID:32019277|PMID:32068069|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32741062|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32926152|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33580181|PMID:33848333|PMID:34117267|PMID:34250417|PMID:34326862|PMID:34426522|PMID:34755017|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36113988|PMID:36451132|PMID:36672847|PMID:8613431|PMID:8700523|PMID:9259192|PMID:9718327 8767119 Msh2 mutS homolog 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732745 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G322D PMID:16252083|REF_RGD_ID:2293512 8767119 Msh2 mutS homolog 2 gene DOID:1896 sigmoid neoplasm ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:10495924|PMID:12658575|PMID:15849733|PMID:17312306|PMID:18566915|PMID:20215533|PMID:23741719|PMID:24323032|PMID:24362816|PMID:25117503|PMID:25648859|PMID:25741868|PMID:26177554|PMID:26659639|PMID:27013479|PMID:27601186|PMID:28492532|PMID:28790115|PMID:31162827|PMID:33977078|PMID:34680242 8767119 Msh2 mutS homolog 2 gene DOID:218 ascending colon cancer ISO RGD:732745 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant tumor of ascending colon PMID:11208710|PMID:11524701|PMID:11601928|PMID:11769729|PMID:11854906|PMID:12414824|PMID:12547705|PMID:12658575|PMID:15713769|PMID:15849733|PMID:16116158|PMID:16237223|PMID:16616355|PMID:16807412|PMID:17229076|PMID:17312306|PMID:18270343|PMID:18566915|PMID:19723918|PMID:20215533|PMID:20233461|PMID:20587412|PMID:21598002|PMID:21879275|PMID:23047549|PMID:24033266|PMID:24344984|PMID:24362816|PMID:25430799|PMID:25741868|PMID:26467025|PMID:27013479|PMID:27601186|PMID:28492532|PMID:30521064|PMID:9311737|PMID:9718327 8767119 Msh2 mutS homolog 2 gene DOID:219 colon cancer ISO RGD:732745 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:28492532|PMID:33357406 8767119 Msh2 mutS homolog 2 gene DOID:219 colon cancer disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD PMID:28411881|REF_RGD_ID:126790577 8767119 Msh2 mutS homolog 2 gene DOID:219 colon cancer disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD DNA, mRNA:loss of heterogeneity, increased expression: :colon PMID:29715107|REF_RGD_ID:126790554 8767119 Msh2 mutS homolog 2 gene DOID:219 colon cancer no_association ISO RGD:732745 D RGD:9068941 20210430 RGD DNA:SNP:intron:IVS10+12G>A (human) PMID:29715107|REF_RGD_ID:126790554 8767119 Msh2 mutS homolog 2 gene DOID:2394 ovarian cancer ISO RGD:732745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:12376507|PMID:14514376|PMID:15046089|PMID:15613555|PMID:16425354|PMID:18383312|PMID:18726168|PMID:19419416|PMID:22006311|PMID:22949387|PMID:23047549|PMID:23760103|PMID:25085752|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26824983|PMID:26845104|PMID:26951660|PMID:27974047|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28580595|PMID:28706299|PMID:28767289|PMID:29050249|PMID:29192238|PMID:29684080|PMID:30122538|PMID:30267214|PMID:30374176|PMID:30630526|PMID:30833958|PMID:30982232|PMID:31054147|PMID:31235699|PMID:31248605|PMID:31307542|PMID:31386297|PMID:32019277|PMID:32255556|PMID:32547938|PMID:32566746|PMID:32832836|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34755017 8767119 Msh2 mutS homolog 2 gene DOID:2394 ovarian cancer ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:12376507|PMID:14514376|PMID:15046089|PMID:15613555|PMID:16425354|PMID:18383312|PMID:18726168|PMID:19419416|PMID:22006311|PMID:22949387|PMID:23047549|PMID:23760103|PMID:25085752|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26824983|PMID:26845104|PMID:26951660|PMID:27363726|PMID:27974047|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28580595|PMID:28706299|PMID:28767289|PMID:29050249|PMID:29192238|PMID:29684080|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30374176|PMID:30630526|PMID:30833958|PMID:30982232|PMID:31054147|PMID:31235699|PMID:31248605|PMID:31307542|PMID:31386297|PMID:32019277|PMID:32068069|PMID:32255556|PMID:32547938|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32973888|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34755017|PMID:35449176|PMID:35884469 8767119 Msh2 mutS homolog 2 gene DOID:2671 transitional cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD associated with Lynch syndrome PMID:22883484|REF_RGD_ID:126790557 8767119 Msh2 mutS homolog 2 gene DOID:2871 endometrial carcinoma ISO RGD:732745 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12115348|PMID:12362047|PMID:14504054|PMID:15235034|PMID:15342696|PMID:15655560|PMID:15713769|PMID:15849733|PMID:1586275|PMID:15862756|PMID:15872200|PMID:16451135|PMID:17192056|PMID:17312306|PMID:17440950|PMID:17531815|PMID:17576681|PMID:17665423|PMID:18383312|PMID:18772310|PMID:18822302|PMID:20305446|PMID:21239990|PMID:21879275|PMID:21926548|PMID:23047549|PMID:23729658|PMID:24033266|PMID:24278394|PMID:24362816|PMID:25081409|PMID:25117503|PMID:25326637|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25741868|PMID:25964535|PMID:25987035|PMID:26467025|PMID:26951660|PMID:27449771|PMID:27601186|PMID:27606285|PMID:28492532|PMID:29212164|PMID:29967336|PMID:30998989|PMID:32295079|PMID:32849802|PMID:32885271|PMID:33357406|PMID:33471991|PMID:35264596|PMID:7585065|PMID:8640829|PMID:9222765|PMID:9536098|PMID:9718327|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD mRNA:decreased expression:larynx PMID:23787767|REF_RGD_ID:126848783 8767119 Msh2 mutS homolog 2 gene DOID:3068 glioblastoma ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:25741868 8767119 Msh2 mutS homolog 2 gene DOID:3070 high grade glioma ISO RGD:732745 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ependymoma PMID:11726306|PMID:15849733|PMID:17101317|PMID:25741868|PMID:28492532|PMID:28785832|PMID:33357406|PMID:34359559 8767119 Msh2 mutS homolog 2 gene DOID:3247 rhabdomyosarcoma ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10080150|PMID:10323887|PMID:10375096|PMID:11151427|PMID:15849733|PMID:15872200|PMID:16216036|PMID:16736289|PMID:16996571|PMID:18270343|PMID:19731080|PMID:21642682|PMID:22034109|PMID:23990280|PMID:24344984|PMID:24362816|PMID:24549055|PMID:24851142|PMID:25117503|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27601186|PMID:28492532|PMID:28874130|PMID:30521064|PMID:31054147|PMID:31615790|PMID:33484353|PMID:8592341 8767119 Msh2 mutS homolog 2 gene DOID:3347 osteosarcoma disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD PMID:25503122|REF_RGD_ID:126848779 8767119 Msh2 mutS homolog 2 gene DOID:3459 breast carcinoma ISO RGD:732745 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10023327|PMID:10051005|PMID:10413423|PMID:10446963|PMID:10978353|PMID:11291077|PMID:11601928|PMID:11726306|PMID:11920650|PMID:12112654|PMID:12352241|PMID:12362047|PMID:12522549|PMID:12624141|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15713769|PMID:15849733|PMID:15855432|PMID:16203774|PMID:16216036|PMID:16341550|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16830052|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18460031|PMID:18566915|PMID:18625694|PMID:18772310|PMID:18951462|PMID:18951465|PMID:19130300|PMID:19267393|PMID:19419416|PMID:19459153|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20672385|PMID:20682701|PMID:21120944|PMID:21598002|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23329266|PMID:23760103|PMID:24033266|PMID:24040339|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24362816|PMID:24415873|PMID:24728327|PMID:24933000|PMID:25025451|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25795746|PMID:25980754|PMID:26096739|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26845104|PMID:26951660|PMID:27328445|PMID:27601186|PMID:27606285|PMID:27629256|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28785832|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29489754|PMID:29575718|PMID:29659569|PMID:29769598|PMID:29889250|PMID:29967336|PMID:30019097|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30521064|PMID:30553995|PMID:30702970|PMID:30787465|PMID:30798936|PMID:30875412|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31332305|PMID:31444830|PMID:31491536|PMID:31615790|PMID:31660093|PMID:31742824|PMID:31857677|PMID:32075053|PMID:32658311|PMID:32926152|PMID:33357406|PMID:33471991|PMID:33484353|PMID:33726816|PMID:34178123|PMID:34347074|PMID:34359559|PMID:35734982|PMID:36073783|PMID:36421850|PMID:6096739|PMID:8062247|PMID:8261515|PMID:8566964|PMID:8872463|PMID:8895729|PMID:9036882|PMID:9288790|PMID:9536098 8767119 Msh2 mutS homolog 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:10769643|REF_RGD_ID:2293524 8767119 Msh2 mutS homolog 2 gene DOID:3459 breast carcinoma severity ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:17394628|REF_RGD_ID:2293505 8767119 Msh2 mutS homolog 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:esophagus PMID:24366688|REF_RGD_ID:126790573 8767119 Msh2 mutS homolog 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus PMID:22265839|REF_RGD_ID:126790560 8767119 Msh2 mutS homolog 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732745 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus PMID:21674174|REF_RGD_ID:126790574 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11854906|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34837403|PMID:34906448|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32844218 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:3658675|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35358259|PMID:35370679|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36243179|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36550560|PMID:3658675|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37262986|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200 8767119 Msh2 mutS homolog 2 gene DOID:3883 Lynch syndrome onset ISO RGD:732745 D RGD:9068941 20210430 RGD PMID:10404063|REF_RGD_ID:11063948 8767119 Msh2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 8767119 Msh2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732745 D RGD:9068941 20210430 RGD protein:decreased expression:lung PMID:16783774|REF_RGD_ID:126848791 8767119 Msh2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732745 D RGD:9068941 20210430 RGD DNA:SNP: :rs6544991 (human) PMID:28093084|REF_RGD_ID:126848786 8767119 Msh2 mutS homolog 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732745 D RGD:9068941 20210507 RGD PMID:20145178|PMID:20458443|REF_RGD_ID:126848789|REF_RGD_ID:126848800 8767119 Msh2 mutS homolog 2 gene DOID:3910 lung adenocarcinoma ISO RGD:732745 D RGD:9068941 20210507 RGD DNA:polymorphisms:introns:IVS10+12A>G, IVS12-6T>C (human) PMID:16614121|REF_RGD_ID:11065547 8767119 Msh2 mutS homolog 2 gene DOID:3910 lung adenocarcinoma no_association ISO RGD:732745 D RGD:9068941 20210507 RGD DNA:polymorphisms:promoter, intron:-118T>C, IVS1+9G>C (human) PMID:16614121|REF_RGD_ID:11065547 8767119 Msh2 mutS homolog 2 gene DOID:4450 renal cell carcinoma ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:18325052|PMID:21926548|PMID:24506336|PMID:24763289|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26878173|PMID:26951660|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28640387|PMID:28828701|PMID:29887214|PMID:30306255|PMID:30998989|PMID:31297992|PMID:31391288|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33471991|PMID:33630411|PMID:34371384|PMID:34426522|PMID:35245693|PMID:35264596|PMID:36845387 8767119 Msh2 mutS homolog 2 gene DOID:4606 bile duct cancer ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:33357406 8767119 Msh2 mutS homolog 2 gene DOID:5119 ovarian cyst ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian cyst PMID:10564582|PMID:15849733|PMID:15955785|PMID:16216036|PMID:17312306|PMID:17569143|PMID:19419416|PMID:21778331|PMID:24244552|PMID:24362816|PMID:25559809|PMID:25712738|PMID:25741868|PMID:26467025|PMID:26552419|PMID:26845104|PMID:28492532|PMID:29360161|PMID:31615790|PMID:31692600|PMID:31948886|PMID:8872463 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10612827|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21520333|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9536098|PMID:9559627|PMID:9611074 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16327991|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:9298827|PMID:9559627|PMID:9611074 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:35449176|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:35449176|PMID:35884469|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32926152|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:3616036|PMID:36243179|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522 8767119 Msh2 mutS homolog 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732745 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32926152|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522 8767119 Msh2 mutS homolog 2 gene DOID:630 genetic disease ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8767119 Msh2 mutS homolog 2 gene DOID:687 hepatoblastoma ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 8767119 Msh2 mutS homolog 2 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:732745 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:15807307|REF_RGD_ID:2293515 8767119 Msh2 mutS homolog 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732745 D RGD:9068941 20210507 RGD associated with laryngeal squamous cell carcinoma PMID:24459922|REF_RGD_ID:126848797 8767119 Msh2 mutS homolog 2 gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:15492498|REF_RGD_ID:2293516 8767119 Msh2 mutS homolog 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732745 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17390069|REF_RGD_ID:2293506 8767119 Msh2 mutS homolog 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10375096|PMID:10413423|PMID:15713769|PMID:15849733|PMID:16216036|PMID:17348456|PMID:19731080|PMID:20215533|PMID:21598002|PMID:24362816|PMID:24710284|PMID:25741868|PMID:26467025|PMID:26485756|PMID:28492532|PMID:29625052|PMID:31830689|PMID:32906206|PMID:33471991|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:17596548|REF_RGD_ID:2293504 8767119 Msh2 mutS homolog 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:15807307|REF_RGD_ID:2293515 8767119 Msh2 mutS homolog 2 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:732745 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 PMID:10080150|PMID:10196371|PMID:10323887|PMID:10375096|PMID:10970186|PMID:10978353|PMID:11151427|PMID:11291077|PMID:11601928|PMID:11920650|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12624141|PMID:12658575|PMID:14580774|PMID:15235030|PMID:15254659|PMID:15365996|PMID:15655560|PMID:15713769|PMID:15849733|PMID:15855432|PMID:15872200|PMID:16216036|PMID:16395668|PMID:16451135|PMID:16614121|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16830052|PMID:16929514|PMID:16996571|PMID:17011982|PMID:17192056|PMID:17312306|PMID:17374836|PMID:17473388|PMID:17569143|PMID:17720936|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18561205|PMID:18772310|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19698169|PMID:19731080|PMID:20007843|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21387278|PMID:21598002|PMID:21642682|PMID:21788563|PMID:21868491|PMID:21926548|PMID:22034109|PMID:22290698|PMID:22581703|PMID:22883484|PMID:22977643|PMID:23047549|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24474082|PMID:24506336|PMID:24549055|PMID:24763289|PMID:24851142|PMID:24933000|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25186627|PMID:25194673|PMID:25430799|PMID:25525159|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:26094658|PMID:26096739|PMID:26250988|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26845104|PMID:26878173|PMID:26951660|PMID:27328445|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27863258|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28640387|PMID:28767289|PMID:28828701|PMID:28874130|PMID:28929227|PMID:28944238|PMID:29025352|PMID:29302048|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29731845|PMID:29887214|PMID:29889250|PMID:29967336|PMID:30093976|PMID:30131383|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30521064|PMID:30740824|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31162827|PMID:31237724|PMID:31297992|PMID:31391288|PMID:31491536|PMID:31569399|PMID:31615790|PMID:31660093|PMID:31742824|PMID:31857677|PMID:32075053|PMID:32338768|PMID:32522261|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32832836|PMID:33357406|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33606809|PMID:33630411|PMID:33848333|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34761457|PMID:35245693|PMID:35264596|PMID:36073783|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:8261515|PMID:8566964|PMID:8592341|PMID:9288790|PMID:9748699 8767119 Msh2 mutS homolog 2 gene DOID:9004271 Colonic Polyps ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:15849733|PMID:16341550|PMID:24549055|PMID:24556621|PMID:24728189|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27601186|PMID:27696107|PMID:28466842|PMID:28492532|PMID:30877237 8767119 Msh2 mutS homolog 2 gene DOID:9005147 Hydatidiform Mole ISO RGD:732745 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell PMID:15338238|REF_RGD_ID:2293517 8767119 Msh2 mutS homolog 2 gene DOID:9005761 Mismatch Repair Cancer Syndrome 2 ISO RGD:732745 D RGD:7240710 20201202 OMIM 8767119 Msh2 mutS homolog 2 gene DOID:9005761 Mismatch Repair Cancer Syndrome 2 ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 2 PMID:10190329|PMID:10196371|PMID:10874307|PMID:11809679|PMID:11920650|PMID:12549480|PMID:12624141|PMID:12658575|PMID:15235030|PMID:15713769|PMID:15849733|PMID:15855432|PMID:16372347|PMID:16639607|PMID:16807412|PMID:18033691|PMID:18781192|PMID:19459153|PMID:19698169|PMID:21642682|PMID:21837758|PMID:21868491|PMID:22883484|PMID:23047549|PMID:24033266|PMID:24090359|PMID:24362816|PMID:25117503|PMID:25370038|PMID:25430799|PMID:25479140|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25741868|PMID:26270727|PMID:26467025|PMID:26681312|PMID:28492532|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29625052|PMID:29706558|PMID:29887214|PMID:29967336|PMID:30267214|PMID:30322717|PMID:31054147|PMID:31857677|PMID:32338768|PMID:32659497|PMID:32809219|PMID:32832836|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34250417|PMID:34326862|PMID:36073783|PMID:36451132|PMID:36988593|PMID:8521394|PMID:9718327 8767119 Msh2 mutS homolog 2 gene DOID:9005804 Vulvar Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:15870899|REF_RGD_ID:2293514 8767119 Msh2 mutS homolog 2 gene DOID:9006657 Colon Diverticulum ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colonic diverticula PMID:12624141|PMID:27601186|PMID:28492532|PMID:28577310|PMID:33357406 8767119 Msh2 mutS homolog 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:18325052|PMID:21926548|PMID:24506336|PMID:24763289|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26878173|PMID:26951660|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28640387|PMID:28828701|PMID:29887214|PMID:30306255|PMID:30998989|PMID:31297992|PMID:31391288|PMID:32658311|PMID:32719484|PMID:33357406|PMID:33471991|PMID:33630411|PMID:34371384|PMID:34426522|PMID:35245693|PMID:35264596|PMID:36845387 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14692024|PMID:14871975|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:2695166|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27628256|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31666926|PMID:31857677|PMID:31881200|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32741062|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14692024|PMID:14871975|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28828701|PMID:28873162 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31666926|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32741062|PMID:32849802|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34178123 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35223509|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35223509|PMID:35224146|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:3658675|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404 8767119 Msh2 mutS homolog 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732745 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35223509|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949 8767119 Msh2 mutS homolog 2 gene DOID:9007150 Urogenital Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD protein:decreased expression PMID:16288216|REF_RGD_ID:2293511 8767119 Msh2 mutS homolog 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD PMID:11920468|REF_RGD_ID:2293523 8767119 Msh2 mutS homolog 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732745 D RGD:9068941 20200609 RGD DNA, protein:mutation, decreased expression:endometrium PMID:17925543|REF_RGD_ID:2298951 8767119 Msh2 mutS homolog 2 gene DOID:9007998 Hydatidiform Mole, Invasive ISO RGD:732745 D RGD:9068941 20200609 RGD protein:decreased expression:mononuclear cytotrophoblast cell PMID:15338238|REF_RGD_ID:2293517 8767119 Msh2 mutS homolog 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949393 8767119 Msh2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31843900|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:34117267|PMID:34906448|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:21520333|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:34117267|PMID:34906448|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:9256 colorectal cancer ISO RGD:732745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:21520333|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31297992|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:33580181|PMID:34117267|PMID:34906448|PMID:35264596|PMID:8700523|PMID:9259192|PMID:9774676 8767119 Msh2 mutS homolog 2 gene DOID:9460 uterine corpus cancer ISO RGD:732745 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11859205|PMID:21642682|PMID:36988593|PMID:9634524 8767137 Rpl26 ribosomal protein L26 gene DOID:0111892 Diamond-Blackfan anemia 11 ISO RGD:1321610 D RGD:7240710 20180130 OMIM 8767137 Rpl26 ribosomal protein L26 gene DOID:0111892 Diamond-Blackfan anemia 11 ISO RGD:1321610 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 11 PMID:22431104|PMID:25741868|PMID:28492532 8767137 Rpl26 ribosomal protein L26 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1321610 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:25741868|PMID:28492532 8767137 Rpl26 ribosomal protein L26 gene DOID:2729 dyskeratosis congenita ISO RGD:1321610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8767137 Rpl26 ribosomal protein L26 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1321610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8767145 Gsn gelsolin gene DOID:0050637 Finnish type amyloidosis ISO RGD:1346375 D RGD:7240710 20180130 OMIM 8767145 Gsn gelsolin gene DOID:0050637 Finnish type amyloidosis ISO RGD:1346375 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GSN-related condition | ClinVar Annotator: match by term: Meretoja syndrome PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:1338910|PMID:14640038|PMID:16199547|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1849145|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:22622774|PMID:22938848|PMID:25342098|PMID:25601851|PMID:25741868|PMID:26915616|PMID:27982499|PMID:28492532|PMID:28924445|PMID:29069428|PMID:29167514|PMID:29637772|PMID:30625383|PMID:31243148|PMID:33499149|PMID:33598831|PMID:33973672|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:8395367|PMID:9536098 8767145 Gsn gelsolin gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:19669398|REF_RGD_ID:329333016 8767145 Gsn gelsolin gene DOID:10591 pre-eclampsia disease_progression ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:24239294|REF_RGD_ID:329337339 8767145 Gsn gelsolin gene DOID:11476 osteoporosis ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8767145 Gsn gelsolin gene DOID:1459 hypothyroidism ISO RGD:1303089 D RGD:9068941 20200609 RGD Protein:increased expression:cochlea PMID:2848627|REF_RGD_ID:1599872 8767145 Gsn gelsolin gene DOID:3525 middle cerebral artery infarction ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:18234195|REF_RGD_ID:329333031 8767145 Gsn gelsolin gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:9927495|REF_RGD_ID:329333033 8767145 Gsn gelsolin gene DOID:3526 cerebral infarction severity ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:21481565|REF_RGD_ID:329337334 8767145 Gsn gelsolin gene DOID:5844 myocardial infarction ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood serum (human) PMID:9142022|REF_RGD_ID:329333022 8767145 Gsn gelsolin gene DOID:5844 myocardial infarction ameliorates ISO RGD:1303089 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 8767145 Gsn gelsolin gene DOID:60001 pulmonary artery disease severity ISO RGD:1550660 D RGD:9068941 20230427 RGD associated with ischemia PMID:12654637|REF_RGD_ID:329333024 8767145 Gsn gelsolin gene DOID:630 genetic disease ISO RGD:1346375 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:14640038|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1848334|PMID:2153578|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28166811|PMID:28492532|PMID:28924445|PMID:29167514|PMID:29637772|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:9536098 8767145 Gsn gelsolin gene DOID:630 genetic disease ISO RGD:1346375 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11754099|PMID:1311149|PMID:1315718|PMID:1322359|PMID:1322360|PMID:1338910|PMID:14640038|PMID:16199547|PMID:1652889|PMID:1658654|PMID:17576681|PMID:1849145|PMID:2175344|PMID:2176164|PMID:2176481|PMID:2176550|PMID:22622774|PMID:22938848|PMID:25342098|PMID:25601851|PMID:25741868|PMID:27982499|PMID:28492532|PMID:28924445|PMID:29069428|PMID:29167514|PMID:29637772|PMID:30625383|PMID:31243148|PMID:32368002|PMID:33598831|PMID:33973672|PMID:4543600|PMID:6610849|PMID:6975851|PMID:7550233|PMID:7868127|PMID:8388189|PMID:8395367|PMID:9536098 8767145 Gsn gelsolin gene DOID:8481 rheumatic myocarditis ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:25403731|REF_RGD_ID:329333026 8767145 Gsn gelsolin gene DOID:850 lung disease ISO RGD:1303089 D RGD:9068941 20200609 RGD Protein:increased expression:plasma PMID:2829631|REF_RGD_ID:1599873 8767145 Gsn gelsolin gene DOID:9000438 Subarachnoid Hemorrhage disease_progression ISO RGD:1303089 D RGD:9068941 20230427 RGD mRNA, protein:altered expression:cerebral cortex (rat) PMID:25744577|REF_RGD_ID:11055426 8767145 Gsn gelsolin gene DOID:9000438 Subarachnoid Hemorrhage severity ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:23880145|REF_RGD_ID:329333027 8767145 Gsn gelsolin gene DOID:9000815 Aortic Calcification disease_progression ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood (human) PMID:26941566|REF_RGD_ID:329336117 8767145 Gsn gelsolin gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:1550660 D RGD:9068941 20230504 RGD protein:decreased expression:blood plasma (human) PMID:28755273|REF_RGD_ID:329337382 8767145 Gsn gelsolin gene DOID:9000998 Brain Injuries ISO RGD:1303089 D RGD:9068941 20200609 RGD PMID:14588109|REF_RGD_ID:1599864 8767145 Gsn gelsolin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1303089 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:14574581|REF_RGD_ID:1599866 8767145 Gsn gelsolin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8767145 Gsn gelsolin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8767145 Gsn gelsolin gene DOID:9002599 Basal Ganglia Hemorrhage severity ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:23142649|REF_RGD_ID:329333032 8767145 Gsn gelsolin gene DOID:9003121 Thromboembolism ameliorates ISO RGD:1346375 D RGD:9068941 20230427 RGD human gene in mouse model PMID:31002695|REF_RGD_ID:329333020 8767145 Gsn gelsolin gene DOID:9003565 Paratuberculosis ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 8767145 Gsn gelsolin gene DOID:9003566 Mesothelioma ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 8767145 Gsn gelsolin gene DOID:9003646 Arterial Thrombosis ameliorates ISO RGD:1346375 D RGD:9068941 20230427 RGD human gene in mouse model PMID:31002695|REF_RGD_ID:329333020 8767145 Gsn gelsolin gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood plasma (human) PMID:29466895|REF_RGD_ID:329333029 8767145 Gsn gelsolin gene DOID:9003936 Cardiomegaly ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30240538 8767145 Gsn gelsolin gene DOID:9003936 Cardiomegaly treatment ISO RGD:1303089 D RGD:9068941 20230427 RGD PMID:30240538|REF_RGD_ID:329333015 8767145 Gsn gelsolin gene DOID:9004484 Sepsis ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood serum (human) PMID:9142022|REF_RGD_ID:329333022 8767145 Gsn gelsolin gene DOID:9004492 Familial Amyloidosis ISO RGD:1346375 D RGD:9068941 20200609 RGD DNA:point mutation: ;654G>A PMID:2175344|REF_RGD_ID:1599858 8767145 Gsn gelsolin gene DOID:9004590 Acute Liver Failure ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood serum (human) PMID:9142022|REF_RGD_ID:329333022 8767145 Gsn gelsolin gene DOID:9004657 Weight Gain ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8767145 Gsn gelsolin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1303089 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:8895730|REF_RGD_ID:1599869 8767145 Gsn gelsolin gene DOID:9006646 Metabolic Syndrome severity ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:29684438|REF_RGD_ID:329333017 8767145 Gsn gelsolin gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:1550660 D RGD:9068941 20230427 RGD PMID:19246681|REF_RGD_ID:329333014 8767145 Gsn gelsolin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8767145 Gsn gelsolin gene DOID:9008652 Postoperative Atrial Fibrillation susceptibility ISO RGD:1346375 D RGD:9068941 20230504 RGD DNA:SNP:: (rs2230287) (human) PMID:27923400|REF_RGD_ID:329337380 8767145 Gsn gelsolin gene DOID:9120 amyloidosis ISO RGD:1346375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:25741868|PMID:28492532 8767145 Gsn gelsolin gene DOID:9159 gas gangrene ISO RGD:1346375 D RGD:9068941 20230427 RGD protein:decreased expression:blood serum (human) PMID:9142022|REF_RGD_ID:329333022 8767225 Isoc2 isochorismatase domain containing 2 gene DOID:630 genetic disease ISO RGD:1350867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767225 Isoc2 isochorismatase domain containing 2 gene DOID:8398 osteoarthritis ISO RGD:1350867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8767239 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:1540 parathyroid carcinoma ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8767239 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:630 genetic disease ISO RGD:1350364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767239 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8767239 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1350364 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 8767239 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:9008387 Selective Tooth Agenesis 9 ISO RGD:1350364 D RGD:7240710 20190315 OMIM 8767239 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:9008387 Selective Tooth Agenesis 9 ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 9 PMID:23401279|PMID:25741868|PMID:26416033 8767239 Grem2 gremlin 2, DAN family BMP antagonist gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8767245 Lbh LBH regulator of WNT signaling pathway gene DOID:630 genetic disease ISO RGD:1604281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767245 Lbh LBH regulator of WNT signaling pathway gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8767252 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736950 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8767252 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:0070389 developmental and epileptic encephalopathy 103 ISO RGD:736950 D RGD:7240710 20220629 OMIM 8767252 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:0070389 developmental and epileptic encephalopathy 103 ISO RGD:736950 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 103 | ClinVar Annotator: match by term: KCNC2-related condition PMID:25741868|PMID:28492532|PMID:31972370|PMID:32392612|PMID:34448338|PMID:35314505 8767252 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736950 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 8767252 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:1826 epilepsy susceptibility ISO RGD:736951 D RGD:9068941 20200609 RGD PMID:11124984|REF_RGD_ID:9831375 8767252 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:3068 glioblastoma ISO RGD:736950 D RGD:9068941 20200609 RGD mRNA:splice variant (human) PMID:18474104|REF_RGD_ID:9686067 8767252 Kcnc2 potassium voltage-gated channel subfamily C member 2 gene DOID:630 genetic disease ISO RGD:736950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8767260 OPRD1 opioid receptor delta 1 gene DOID:11206 opioid abuse susceptibility ISO RGD:731961 D RGD:9068941 20240307 RGD DNA:methylation:3'UTR (rs4654327) (human) PMID:37660978|REF_RGD_ID:402463943 8767260 Oprd1 opioid receptor delta 1 gene DOID:0050741 alcohol dependence ISO RGD:731961 D RGD:9068941 20240229 RGD DNA:SNP,haplotype:intron 1 (rs2298896|rs421300), multiple GCAAT (human) PMID:17622222|REF_RGD_ID:401976552 8767260 Oprd1 opioid receptor delta 1 gene DOID:0060001 withdrawal disorder ISO RGD:731961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2415332 8767260 Oprd1 opioid receptor delta 1 gene DOID:0060001 withdrawal disorder ISO RGD:731961 D RGD:9068941 20240229 RGD DNA:SNP:CDS: rs569356 (human) PMID:37146669|REF_RGD_ID:401976452 8767260 Oprd1 opioid receptor delta 1 gene DOID:11206 opioid abuse ISO RGD:11036 D RGD:9068941 20231111 RGD mRNA:increased expression:ventral striatum PMID:30059705|REF_RGD_ID:401900306 8767260 Oprd1 opioid receptor delta 1 gene DOID:11206 opioid abuse treatment ISO RGD:731961 D RGD:9068941 20240229 RGD DNA:SNP:CDS: rs569356|rs678849 (human) PMID:37146669|REF_RGD_ID:401976452 8767260 Oprd1 opioid receptor delta 1 gene DOID:11206 opioid abuse treatment ISO RGD:731961 D RGD:9068941 20240309 RGD associated with females, buprenorphine;DNA:SNP:intron (rs581111|rs529520) (human) PMID:24126707|REF_RGD_ID:402463962 8767260 Oprd1 opioid receptor delta 1 gene DOID:1574 alcohol use disorder ISO RGD:3233 D RGD:9068941 20240222 RGD PMID:7501658|REF_RGD_ID:401976439 8767260 Oprd1 opioid receptor delta 1 gene DOID:1574 alcohol use disorder ISO RGD:3233 D RGD:9068941 20240222 RGD associated with stress-related disorder; mRNA:decreased expression:dorsal striatum (rat) PMID:28511993|REF_RGD_ID:401976432 8767260 Oprd1 opioid receptor delta 1 gene DOID:1574 alcohol use disorder ISO RGD:731961 D RGD:9068941 20240314 RGD DNA:SNPs, haplotype:intron 1:multiple (human) PMID:24533225|REF_RGD_ID:402525443 8767260 Oprd1 opioid receptor delta 1 gene DOID:1826 epilepsy ISO RGD:731961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2415332 8767260 Oprd1 opioid receptor delta 1 gene DOID:2559 opiate dependence ISO RGD:731961 D RGD:9068941 20240229 RGD DNA:SNP, haplotype: (rs678849|rs2236857|rs2236855|rs760589) (human) PMID:28632076|REF_RGD_ID:401976541 8767260 Oprd1 opioid receptor delta 1 gene DOID:2559 opiate dependence ISO RGD:731961 D RGD:9068941 20240229 RGD DNA:SNP,haplotype:multiple (multiple)(human) PMID:17622222|REF_RGD_ID:401976552 8767260 Oprd1 opioid receptor delta 1 gene DOID:2559 opiate dependence ISO RGD:731961 D RGD:9068941 20240307 RGD DNA:SNP:intron (rs10753331, rs581111) (human) PMID:22795689|REF_RGD_ID:401976559 8767260 Oprd1 opioid receptor delta 1 gene DOID:2559 opiate dependence ISO RGD:731961 D RGD:9068941 20240314 RGD DNA:SNPs, haplotype:intron 1:multiple (human) PMID:24533225|REF_RGD_ID:402525443 8767260 Oprd1 opioid receptor delta 1 gene DOID:2559 opiate dependence susceptibility ISO RGD:731961 D RGD:9068941 20231021 RGD DNA:SNP: :rs1042114 (human) PMID:28656735|REF_RGD_ID:401850580 8767260 Oprd1 opioid receptor delta 1 gene DOID:2559 opiate dependence susceptibility ISO RGD:731961 D RGD:9068941 20231207 RGD DNA:SNP: :rs2236861(human) PMID:24086514|REF_RGD_ID:401901242 8767260 Oprd1 opioid receptor delta 1 gene DOID:2559 opiate dependence treatment ISO RGD:731961 D RGD:9068941 20240307 RGD associated with methadone treatment;DNA:SNP:intron (rs204076) (human) PMID:37531661|REF_RGD_ID:401977581 8767260 Oprd1 opioid receptor delta 1 gene DOID:2559 opiate dependence treatment ISO RGD:731961 D RGD:9068941 20240314 RGD associated with African American;DNA:SNP:intron (rs678849) (human) PMID:23612435|REF_RGD_ID:402463973 8767260 Oprd1 opioid receptor delta 1 gene DOID:2559 opiate dependence treatment ISO RGD:731961 D RGD:9068941 20240314 RGD associated with neonatal abstinence syndrome in offspring;DNA:SNP:intron (rs204076) (human) PMID:26233486|REF_RGD_ID:11079504 8767260 Oprd1 opioid receptor delta 1 gene DOID:303 substance-related disorder ISO RGD:731961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17622222|PMID:20098672 8767260 Oprd1 opioid receptor delta 1 gene DOID:5844 myocardial infarction ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:12798419|PMID:15076225|REF_RGD_ID:2316587|REF_RGD_ID:9831425 8767260 Oprd1 opioid receptor delta 1 gene DOID:630 genetic disease ISO RGD:731961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767260 Oprd1 opioid receptor delta 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:10900218|REF_RGD_ID:2316592 8767260 Oprd1 opioid receptor delta 1 gene DOID:9000641 Pain ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:12710986|REF_RGD_ID:2316589 8767260 Oprd1 opioid receptor delta 1 gene DOID:9001131 stress-related disorder ISO RGD:3233 D RGD:9068941 20240222 RGD mRNA:increased expression:dorsal striatum (rat) PMID:28511993|REF_RGD_ID:401976432 8767260 Oprd1 opioid receptor delta 1 gene DOID:9001131 stress-related disorder ISO RGD:731961 D RGD:9068941 20240307 RGD associated with heroin dependence;DNA:SNP:intron (rs2236857) (human) PMID:30171993|REF_RGD_ID:401977579 8767260 Oprd1 opioid receptor delta 1 gene DOID:9002395 Hypothermia ISO RGD:3233 D RGD:9068941 20231130 RGD mRNA:increased expression:hypothalamus PMID:21377399|REF_RGD_ID:401901086 8767260 Oprd1 opioid receptor delta 1 gene DOID:9002916 Hyperphagia ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:9808678|REF_RGD_ID:9831410 8767260 Oprd1 opioid receptor delta 1 gene DOID:9005950 Orthostatic Hypotension ISO RGD:731961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2981652 8767260 Oprd1 opioid receptor delta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3233 D RGD:9068941 20200609 RGD PMID:12136724|REF_RGD_ID:2316590 8767260 Oprd1 opioid receptor delta 1 gene DOID:9975 cocaine dependence ISO RGD:731961 D RGD:9068941 20240229 RGD DNA:SNP,haplotype:intron 1 (rs2298896|rs421300), multiple GCAAT (human) PMID:17622222|REF_RGD_ID:401976552 8767260 Oprd1 opioid receptor delta 1 gene DOID:9975 cocaine dependence ISO RGD:731961 D RGD:9068941 20240307 RGD DNA:SNP:intron,cds (rs678849,rs2234918) (human) PMID:22795689|REF_RGD_ID:401976559 8767260 Oprd1 opioid receptor delta 1 gene DOID:9975 cocaine dependence ISO RGD:731961 D RGD:9068941 20240314 RGD DNA:SNPs, haplotype:intron 1 (rs2298896|rs421300) (human) PMID:24533225|REF_RGD_ID:402525443 8767260 Oprd1 opioid receptor delta 1 gene DOID:9975 cocaine dependence susceptibility ISO RGD:731961 D RGD:9068941 20240309 RGD associated with alcohol use disorder; DNA:SNP:intron (rs678849) (human) PMID:27449273|REF_RGD_ID:402463960 8767260 Oprd1 opioid receptor delta 1 gene DOID:9975 cocaine dependence treatment ISO RGD:731961 D RGD:9068941 20240307 RGD associated with opiate dependence;DNA:SNP:intron (rs678849) (human) PMID:33953123|REF_RGD_ID:402463937 8767260 Oprd1 opioid receptor delta 1 gene DOID:9976 heroin dependence ISO RGD:731961 D RGD:9068941 20240229 RGD DNA:SNP, haplotype:intron 1 (multiple) (human) PMID:22500942|REF_RGD_ID:401976535 8767260 Oprd1 opioid receptor delta 1 gene DOID:9976 heroin dependence ISO RGD:731961 D RGD:9068941 20240229 RGD DNA:SNP, haplotype:multiple (multiple) (human) PMID:34031368|REF_RGD_ID:401976533 8767260 Oprd1 opioid receptor delta 1 gene DOID:9976 heroin dependence ISO RGD:731961 D RGD:9068941 20240307 RGD associated with stress-related disorder;DNA:SNP:coding synonymous,intron (rs2234918, rs2236857) (human) PMID:30171993|REF_RGD_ID:401977579 8767260 Oprd1 opioid receptor delta 1 gene DOID:9976 heroin dependence onset ISO RGD:731961 D RGD:9068941 20231012 RGD DNA:SNP: :rs508448 (human) PMID:28692418|REF_RGD_ID:401831045 8767260 Oprd1 opioid receptor delta 1 gene DOID:9976 heroin dependence treatment ISO RGD:731961 D RGD:9068941 20240224 RGD DNA:SNP:CDS:intron 1 (rs204047|rs797397) (human) PMID:31907389|REF_RGD_ID:401976443 8767260 Oprd1 opioid receptor delta 1 gene DOID:9976 heroin dependence treatment ISO RGD:731961 D RGD:9068941 20240302 RGD associated with methadone treatment;DNA:SNP:intron (rs529520) (human) PMID:29173032|REF_RGD_ID:401976557 8767267 Syncrip synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:0060041 autism spectrum disorder ISO RGD:1313857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8767267 Syncrip synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:1059 intellectual disability ISO RGD:1313857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8767267 Syncrip synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:1240 leukemia ISO RGD:1313857 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28436985 8767267 Syncrip synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:630 genetic disease ISO RGD:1313857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8767267 Syncrip synaptotagmin binding cytoplasmic RNA interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313857 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SYNCRIP-related neurodevelopmental disorder PMID:25741868 8767305 Dscam DS cell adhesion molecule gene DOID:10485 esophageal atresia ISO RGD:732493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8767305 Dscam DS cell adhesion molecule gene DOID:10487 Hirschsprung's disease ISO RGD:732493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8767305 Dscam DS cell adhesion molecule gene DOID:1059 intellectual disability ISO RGD:732493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8767305 Dscam DS cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:732493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8767305 Dscam DS cell adhesion molecule gene DOID:303 substance-related disorder ISO RGD:732493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8767305 Dscam DS cell adhesion molecule gene DOID:630 genetic disease ISO RGD:732493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191889 8767305 Dscam DS cell adhesion molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8767305 Dscam DS cell adhesion molecule gene DOID:9005369 Hepatomegaly ISO RGD:732493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8767373 Nsd3 nuclear receptor binding SET domain protein 3 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1319069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8767373 Nsd3 nuclear receptor binding SET domain protein 3 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1319069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8767373 Nsd3 nuclear receptor binding SET domain protein 3 gene DOID:607 paraplegia ISO RGD:1319069 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8767373 Nsd3 nuclear receptor binding SET domain protein 3 gene DOID:630 genetic disease ISO RGD:1319069 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767373 Nsd3 nuclear receptor binding SET domain protein 3 gene DOID:8692 myeloid leukemia ISO RGD:1319069 D RGD:9068941 20200609 RGD PMID:11986249|REF_RGD_ID:1599847 8767407 Ccl14 C-C motif chemokine ligand 14 gene DOID:630 genetic disease ISO RGD:1604060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767407 Ccl14 C-C motif chemokine ligand 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1604060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8767414 Mthfsd methenyltetrahydrofolate synthetase domain containing gene DOID:0111985 immunodeficiency 32B ISO RGD:1604316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532 8767414 Mthfsd methenyltetrahydrofolate synthetase domain containing gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1604316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8767414 Mthfsd methenyltetrahydrofolate synthetase domain containing gene DOID:630 genetic disease ISO RGD:1604316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767456 Ric8b RIC8 guanine nucleotide exchange factor B gene DOID:630 genetic disease ISO RGD:1605657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:737091 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex PMID:25741868 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090139 cortisone reductase deficiency ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090139 cortisone reductase deficiency ISO RGD:737091 D RGD:9068941 20200609 RGD DNA:insertion,transversion:intron:86557insA, 83597T>G (human) PMID:12858176|REF_RGD_ID:1625067 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090140 cortisone reductase deficiency 2 ISO RGD:737091 D RGD:7240710 20180130 OMIM 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:0090140 cortisone reductase deficiency 2 ISO RGD:737091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortisone reductase deficiency 2 PMID:21325058|PMID:25741868 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:10591 pre-eclampsia susceptibility ISO RGD:737091 D RGD:9068941 20230629 RGD DNA:SNPs,haplotype: (rs2235543,rs846910) (human) PMID:23659736|REF_RGD_ID:329901926 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:10763 hypertension ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15199296|PMID:21786805|PMID:9683905 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:10763 hypertension susceptibility ISO RGD:737091 D RGD:9068941 20230629 RGD DNA:SNP:5'utr: (rs846910) (human) PMID:15452033|REF_RGD_ID:329902060 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:10825 essential hypertension susceptibility ISO RGD:737091 D RGD:9068941 20230629 RGD DNA:SNP:insertion: ins4436A (rs45487298) (human) PMID:26671915|REF_RGD_ID:11353457 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:2834 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats PMID:14697232|REF_RGD_ID:1625074 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:737091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:1824 status epilepticus ISO RGD:2834 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:22050960|REF_RGD_ID:5686281 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:3393 coronary artery disease sexual_dimorphism ISO RGD:737091 D RGD:9068941 20230629 RGD associated with obesity;mRNA,protein:increased expression:multiple (human) PMID:23009206|REF_RGD_ID:329901914 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:4195 hyperglycemia ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14697232 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:5844 myocardial infarction ISO RGD:10734 D RGD:9068941 20230629 RGD PMID:28522730|REF_RGD_ID:329902054 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:10734 D RGD:9068941 20230629 RGD PMID:26465199|REF_RGD_ID:11087531 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:737091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:737091 D RGD:9068941 20230629 RGD DNA:SNO:intron: (rs17389016, rs11799643) (human) PMID:32453474|REF_RGD_ID:329902062 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:737091 D RGD:9068941 20230629 RGD DNA:SNP:5'utr: (rs846910) (human) PMID:21402901|REF_RGD_ID:329901915 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14697232 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:2834 D RGD:9068941 20200609 RGD PMID:14697232|REF_RGD_ID:1625074 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9006646 Metabolic Syndrome disease_progression ISO RGD:737091 D RGD:9068941 20230629 RGD mRNA:increased expression:ascending aorta,epicardial fat (human) PMID:23007990|REF_RGD_ID:329901930 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:737091 D RGD:9068941 20230629 RGD DNA:SNP: (rs12086634)T>G (human) PMID:23869418|REF_RGD_ID:329901929 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:737091 D RGD:9068941 20230629 RGD DNA:SNP:: (rs846910) (human) PMID:28750217|REF_RGD_ID:329901909 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:737091 D RGD:9068941 20230629 RGD DNA:SNPs:5'utr,enhancer: (rs846910,rs12086634) (human) PMID:21622477|REF_RGD_ID:329901919 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9007692 Insulin Resistance ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21786805 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9007772 Abdominal Obesity ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15199296 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2834 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:islet cells:diabetic but not prediabetic Zucker Diabetic Fatty (fa/fa) rats PMID:14697232|REF_RGD_ID:1625074 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737091 D RGD:9068941 20230629 RGD DNA:SNPs:intron: (rs12086634,rs846910) (human) PMID:28750217|REF_RGD_ID:329901909 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:10734 D RGD:9068941 20200609 RGD PMID:16612591|REF_RGD_ID:1625072 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:2834 D RGD:9068941 20200609 RGD PMID:15131764|REF_RGD_ID:1625073 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:737091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17628001|PMID:21786805 8767484 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 gene DOID:9970 obesity ISO RGD:737091 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue:13-fold higher in obese subjects than controls, protein expression also increased PMID:16914598|REF_RGD_ID:1625071 8767494 CUNH2orf74 chromosome unknown C2orf74 homolog gene DOID:0050545 visceral heterotaxy ISO RGD:1615887 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8767494 CUNH2orf74 chromosome unknown C2orf74 homolog gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:2298736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 8767504 Def6 DEF6 guanine nucleotide exchange factor gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1317434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8767504 Def6 DEF6 guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1317434 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8767504 Def6 DEF6 guanine nucleotide exchange factor gene DOID:9002508 Immunodeficiency 87 and Autoimmunity ISO RGD:1317434 D RGD:7240710 20211110 OMIM 8767504 Def6 DEF6 guanine nucleotide exchange factor gene DOID:9002508 Immunodeficiency 87 and Autoimmunity ISO RGD:1317434 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DEF6-related condition | ClinVar Annotator: match by term: Immunodeficiency 87 and autoimmunity PMID:25741868|PMID:28492532|PMID:31308374|PMID:32562707 8767504 Def6 DEF6 guanine nucleotide exchange factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1317434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 8767504 Def6 DEF6 guanine nucleotide exchange factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1317435 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8767519 Tcf3 transcription factor 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1351290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8767519 Tcf3 transcription factor 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1351290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562 8767519 Tcf3 transcription factor 3 gene DOID:0081140 agammaglobulinemia 8A ISO RGD:1351290 D RGD:7240710 20220831 OMIM 8767519 Tcf3 transcription factor 3 gene DOID:0081140 agammaglobulinemia 8A ISO RGD:1351290 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant PMID:17576681|PMID:21693761|PMID:24216514|PMID:25741868|PMID:28492532|PMID:33905048|PMID:34618307|PMID:9536098 8767519 Tcf3 transcription factor 3 gene DOID:0081143 agammaglobulinemia 8B ISO RGD:1351290 D RGD:7240710 20220831 OMIM 8767519 Tcf3 transcription factor 3 gene DOID:0081143 agammaglobulinemia 8B ISO RGD:1351290 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive PMID:28532655|PMID:30063982 8767519 Tcf3 transcription factor 3 gene DOID:0111152 multicentric Castleman disease ISO RGD:1351290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 8767519 Tcf3 transcription factor 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1351290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8767519 Tcf3 transcription factor 3 gene DOID:10283 prostate cancer severity ISO RGD:1351290 D RGD:9068941 20200609 RGD PMID:22564737|REF_RGD_ID:13506819 8767519 Tcf3 transcription factor 3 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1351290 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:28492532|PMID:35101336 8767519 Tcf3 transcription factor 3 gene DOID:2583 agammaglobulinemia ISO RGD:1351290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8767519 Tcf3 transcription factor 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1351290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8767519 Tcf3 transcription factor 3 gene DOID:630 genetic disease ISO RGD:1351290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21693761|PMID:24216514|PMID:25741868|PMID:28492532|PMID:33905048 8767519 Tcf3 transcription factor 3 gene DOID:8584 Burkitt lymphoma ISO RGD:1351290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17244677|PMID:1967982 8767519 Tcf3 transcription factor 3 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1351290 D RGD:9068941 20200609 RGD associated with colon cancer PMID:26212009|REF_RGD_ID:11533019 8767519 Tcf3 transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8767519 Tcf3 transcription factor 3 gene DOID:9008152 Agammaglobulinemia 8 ISO RGD:1351290 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: TCF3-related condition PMID:25741868|PMID:28492532 8767519 Tcf3 transcription factor 3 gene DOID:9256 colorectal cancer ISO RGD:1351290 D RGD:9068941 20200609 RGD PMID:19828471|REF_RGD_ID:13432061 8767519 Tcf3 transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351290 D RGD:9068941 20200609 RGD PMID:24454819|REF_RGD_ID:13432063 8767519 Tcf3 transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351290 D RGD:9068941 20200609 RGD DNA, mRNA:hypomethylation, increased expression PMID:25375219|REF_RGD_ID:13432058 8767519 Tcf3 transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1351290 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:rs1052918 (human) PMID:23940558|REF_RGD_ID:13432062 8767519 Tcf3 transcription factor 3 gene DOID:9538 multiple myeloma ISO RGD:1351290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8767519 Tcf3 transcription factor 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1351290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214592 8767552 Dis3l DIS3 like exosome 3'-5' exoribonuclease gene DOID:10283 prostate cancer ISO RGD:1606984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8767552 Dis3l DIS3 like exosome 3'-5' exoribonuclease gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8767552 Dis3l DIS3 like exosome 3'-5' exoribonuclease gene DOID:2717 Bloom syndrome ISO RGD:1606984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8767552 Dis3l DIS3 like exosome 3'-5' exoribonuclease gene DOID:630 genetic disease ISO RGD:1606984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767552 Dis3l DIS3 like exosome 3'-5' exoribonuclease gene DOID:9256 colorectal cancer ISO RGD:1606984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8767572 Vwa5b2 von Willebrand factor A domain containing 5B2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:2300034 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:25741868|PMID:28492532 8767572 Vwa5b2 von Willebrand factor A domain containing 5B2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:2300034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8767572 Vwa5b2 von Willebrand factor A domain containing 5B2 gene DOID:0111546 Currarino syndrome ISO RGD:2300034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8767572 Vwa5b2 von Willebrand factor A domain containing 5B2 gene DOID:630 genetic disease ISO RGD:2300034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767594 Sqstm1 sequestosome 1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:736484 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:11473345|PMID:11992264|PMID:12374763|PMID:14584883|PMID:15125799|PMID:15146436|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16199547|PMID:16691492|PMID:16813535|PMID:17120186|PMID:17129171|PMID:17181397|PMID:17188686|PMID:17229007|PMID:17229008|PMID:17576681|PMID:18543015|PMID:18765443|PMID:19049332|PMID:19257822|PMID:19589897|PMID:20200946|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22491873|PMID:22972638|PMID:23117207|PMID:23303844|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23812289|PMID:23820649|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24642144|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25433461|PMID:25512523|PMID:25664955|PMID:25681989|PMID:25708934|PMID:25741868|PMID:25796131|PMID:25852467|PMID:26208961|PMID:26412716|PMID:26467025|PMID:26601740|PMID:26627873|PMID:26713335|PMID:26836416|PMID:26925868|PMID:27156075|PMID:27158844|PMID:27163810|PMID:27275741|PMID:27545679|PMID:27554286|PMID:27594680|PMID:27631370|PMID:28003435|PMID:28430856|PMID:28492532|PMID:28642336|PMID:28709720|PMID:29411640|PMID:29457785|PMID:29525180|PMID:29599744|PMID:29895397|PMID:29959261|PMID:30120248|PMID:30154079|PMID:30638816|PMID:30679323|PMID:30842500|PMID:31108397|PMID:31434890|PMID:31859009|PMID:31914217|PMID:31996268|PMID:32028661|PMID:32385536|PMID:32397312|PMID:32409511|PMID:32579787|PMID:32843152|PMID:33973882|PMID:34009082|PMID:34020145|PMID:34307757|PMID:34774801|PMID:36515702|PMID:9536098 8767594 Sqstm1 sequestosome 1 gene DOID:0080718 GNE myopathy ISO RGD:736484 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism 8767594 Sqstm1 sequestosome 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8767594 Sqstm1 sequestosome 1 gene DOID:0081363 distal myopathy with rimmed vacuoles ISO RGD:736484 D RGD:7240710 20230607 OMIM 8767594 Sqstm1 sequestosome 1 gene DOID:0081363 distal myopathy with rimmed vacuoles ISO RGD:736484 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with rimmed vacuoles PMID:12374763|PMID:15176995|PMID:16199547|PMID:17129171|PMID:17181397|PMID:22084127|PMID:23417734|PMID:25741868|PMID:26208961|PMID:26412716|PMID:26467025|PMID:26627873|PMID:28492532|PMID:31914217 8767594 Sqstm1 sequestosome 1 gene DOID:0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ISO RGD:736484 D RGD:7240710 20190315 OMIM 8767594 Sqstm1 sequestosome 1 gene DOID:0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ISO RGD:736484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset PMID:15146436|PMID:21073987|PMID:22491873|PMID:23117207|PMID:25741868|PMID:26467025|PMID:27545679|PMID:28492532|PMID:29959261 8767594 Sqstm1 sequestosome 1 gene DOID:0081365 Paget's disease of bone 2 ISO RGD:736484 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Paget disease of bone 2 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset PMID:11473345|PMID:11992264|PMID:15125799|PMID:15146436|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17129171|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22491873|PMID:23417734|PMID:23612225|PMID:23812289|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25512523|PMID:25681989|PMID:25741868|PMID:25796131|PMID:26467025|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079|PMID:30679323|PMID:31859009|PMID:36515702 8767594 Sqstm1 sequestosome 1 gene DOID:0081366 Paget's disease of bone 3 ISO RGD:736484 D RGD:7240710 20190327 OMIM 8767594 Sqstm1 sequestosome 1 gene DOID:0081366 Paget's disease of bone 3 ISO RGD:736484 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Paget disease of bone 3 PMID:11473345|PMID:11992264|PMID:12374763|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16199547|PMID:16813535|PMID:17129171|PMID:17188686|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22972638|PMID:23303844|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23812289|PMID:23820649|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25433461|PMID:25512523|PMID:25681989|PMID:25741868|PMID:25796131|PMID:25852467|PMID:26208961|PMID:26467025|PMID:26627873|PMID:26713335|PMID:26836416|PMID:27156075|PMID:27163810|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079|PMID:30679323|PMID:31108397|PMID:31859009|PMID:32385536|PMID:32409511|PMID:32843152|PMID:36515702 8767594 Sqstm1 sequestosome 1 gene DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-3 ISO RGD:736484 D RGD:7240710 20180130 OMIM 8767594 Sqstm1 sequestosome 1 gene DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-3 ISO RGD:736484 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 PMID:11473345|PMID:11992264|PMID:14584883|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16691492|PMID:16813535|PMID:17181397|PMID:17229007|PMID:17229008|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20200946|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22972638|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25241215|PMID:25741868|PMID:25796131|PMID:26412716|PMID:26467025|PMID:26627873|PMID:26713335|PMID:27156075|PMID:27275741|PMID:27594680|PMID:28003435|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29525180|PMID:29599744|PMID:29895397|PMID:30154079|PMID:30842500|PMID:31108397|PMID:31859009|PMID:32409511|PMID:32843152|PMID:35047667 8767594 Sqstm1 sequestosome 1 gene DOID:10763 hypertension ISO RGD:69287 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23499735|REF_RGD_ID:11561939 8767594 Sqstm1 sequestosome 1 gene DOID:14748 Sotos syndrome ISO RGD:736484 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8767594 Sqstm1 sequestosome 1 gene DOID:1686 glaucoma ISO RGD:69287 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve PMID:24136224|REF_RGD_ID:13782046 8767594 Sqstm1 sequestosome 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25741868|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079|PMID:32579787 8767594 Sqstm1 sequestosome 1 gene DOID:4448 macular degeneration ISO RGD:736484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23922739 8767594 Sqstm1 sequestosome 1 gene DOID:5408 Paget's disease of bone ISO RGD:736484 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone, familial PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23612225|PMID:23812289|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25512523|PMID:25741868|PMID:25796131|PMID:26467025|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:30154079|PMID:31859009|PMID:36515702 8767594 Sqstm1 sequestosome 1 gene DOID:630 genetic disease ISO RGD:736484 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17129171|PMID:17188686|PMID:19049332|PMID:22084127|PMID:23812289|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25741868|PMID:26467025|PMID:26601740|PMID:27156075|PMID:28492532|PMID:31108397|PMID:31434890|PMID:32409511|PMID:32843152 8767594 Sqstm1 sequestosome 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 8767594 Sqstm1 sequestosome 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:69287 D RGD:9068941 20200609 RGD protein:decreased expression:basal ganglion PMID:23884876|REF_RGD_ID:11561935 8767594 Sqstm1 sequestosome 1 gene DOID:9005587 Starvation ISO RGD:736484 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 8767594 Sqstm1 sequestosome 1 gene DOID:9923 developmental coordination disorder ISO RGD:736484 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:32773031 8767606 Znf25 zinc finger protein 25 gene DOID:630 genetic disease ISO RGD:1344079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767616 Znf513 zinc finger protein 513 gene DOID:0110362 retinitis pigmentosa 58 ISO RGD:1321365 D RGD:7240710 20180130 OMIM 8767616 Znf513 zinc finger protein 513 gene DOID:0110362 retinitis pigmentosa 58 ISO RGD:1321365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 58 | ClinVar Annotator: match by term: ZNF513-related condition PMID:20227676|PMID:20797688|PMID:25741868|PMID:28492532 8767616 Znf513 zinc finger protein 513 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1321365 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8767616 Znf513 zinc finger protein 513 gene DOID:10584 retinitis pigmentosa ISO RGD:1321365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20227676|PMID:20797688|PMID:25741868|PMID:28492532 8767616 Znf513 zinc finger protein 513 gene DOID:630 genetic disease ISO RGD:1321365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8767616 Znf513 zinc finger protein 513 gene DOID:8501 fundus dystrophy ISO RGD:1321365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 8767636 Znf184 zinc finger protein 184 gene DOID:10283 prostate cancer ISO RGD:1312451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8767636 Znf184 zinc finger protein 184 gene DOID:630 genetic disease ISO RGD:1312451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767659 Spata3 spermatogenesis associated 3 gene DOID:0060476 Perlman syndrome ISO RGD:1317781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8767659 Spata3 spermatogenesis associated 3 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1317781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8767659 Spata3 spermatogenesis associated 3 gene DOID:630 genetic disease ISO RGD:1317781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767685 Sirpa signal regulatory protein alpha gene DOID:0060071 pre-malignant neoplasm ISO RGD:736759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8767685 Sirpa signal regulatory protein alpha gene DOID:630 genetic disease ISO RGD:736759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767710 Gnb1 G protein subunit beta 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8767710 Gnb1 G protein subunit beta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732785 D RGD:7240710 20201223 OMIM 8767710 Gnb1 G protein subunit beta 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732785 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:27108799|PMID:27759915|PMID:28492532|PMID:30504930|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:732785 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 8767710 Gnb1 G protein subunit beta 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732785 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8767710 Gnb1 G protein subunit beta 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8767710 Gnb1 G protein subunit beta 1 gene DOID:0070072 autosomal dominant intellectual developmental disorder 42 ISO RGD:732785 D RGD:7240710 20190315 OMIM 8767710 Gnb1 G protein subunit beta 1 gene DOID:0070072 autosomal dominant intellectual developmental disorder 42 ISO RGD:732785 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42 PMID:19344873|PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31034681|PMID:31735425|PMID:31785789|PMID:32134617|PMID:32581362|PMID:32901917|PMID:32918542|PMID:32963807|PMID:35253369|PMID:36405774|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8767710 Gnb1 G protein subunit beta 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8767710 Gnb1 G protein subunit beta 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8767710 Gnb1 G protein subunit beta 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8767710 Gnb1 G protein subunit beta 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8767710 Gnb1 G protein subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28492532|PMID:29174093|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:732785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:29694806|PMID:30194818|PMID:31735425|PMID:31785789|PMID:32134617|PMID:32918542|PMID:32963807|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:10907 microcephaly ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:27108799|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617 8767710 Gnb1 G protein subunit beta 1 gene DOID:1459 hypothyroidism ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:1596 depressive disorder ISO RGD:732785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 8767710 Gnb1 G protein subunit beta 1 gene DOID:1826 epilepsy ISO RGD:732785 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28492532|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:1826 epilepsy ISO RGD:732785 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Seizure PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32901917|PMID:32918542|PMID:32963807|PMID:35253369|PMID:36405774|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8767710 Gnb1 G protein subunit beta 1 gene DOID:1969 cerebral palsy ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:2030 anxiety disorder ISO RGD:732785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 8767710 Gnb1 G protein subunit beta 1 gene DOID:2234 focal epilepsy ISO RGD:732785 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness PMID:25485910|PMID:25741868|PMID:27108799|PMID:28492532|PMID:30194818|PMID:32134617|PMID:32901917 8767710 Gnb1 G protein subunit beta 1 gene DOID:540 strabismus ISO RGD:732785 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Strabismus PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:35253369|PMID:36405774|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:543 dystonia ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31034681|PMID:31735425|PMID:32134617|PMID:32581362|PMID:32963807|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:6000 congestive heart failure disease_progression ISO RGD:732785 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 8767710 Gnb1 G protein subunit beta 1 gene DOID:630 genetic disease ISO RGD:732785 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27668284|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29174093|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32963807|PMID:35253369|PMID:36405774|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:674 cleft palate ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:732785 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:27108799|PMID:28087732|PMID:29694806|PMID:30194818|PMID:32134617|PMID:32918542 8767710 Gnb1 G protein subunit beta 1 gene DOID:9001276 Failure to Thrive ISO RGD:732785 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32901917|PMID:32963807|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:9005466 Language Development Disorders ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Expressive language delay PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:732785 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32901917|PMID:32918542|PMID:32963807|PMID:35253369|PMID:36405774|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:9006257 Growth Disorders ISO RGD:732785 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32901917|PMID:32963807|PMID:35253369|PMID:36405774|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8767710 Gnb1 G protein subunit beta 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732785 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:27759915|PMID:28087732|PMID:28492532|PMID:29694806|PMID:30194818|PMID:30504930|PMID:31735425|PMID:32134617|PMID:32901917|PMID:32918542|PMID:32963807|PMID:35253369|PMID:36405774|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:732785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8767710 Gnb1 G protein subunit beta 1 gene DOID:9650 pathologic nystagmus ISO RGD:732785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:24033266|PMID:25485910|PMID:25741868|PMID:25741901|PMID:27108799|PMID:27513193|PMID:28492532|PMID:30194818|PMID:31735425|PMID:32134617|PMID:32963807|PMID:9596582 8767710 Gnb1 G protein subunit beta 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732785 D RGD:7240710 20230505 OMIM 8767710 Gnb1 G protein subunit beta 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732785 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia PMID:25485910|PMID:25741868|PMID:27108799|PMID:28492532|PMID:32134617|PMID:32901917 8767738 Spdya speedy/RINGO cell cycle regulator family member A gene DOID:630 genetic disease ISO RGD:1352707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767754 Galnt16 polypeptide N-acetylgalactosaminyltransferase 16 gene DOID:630 genetic disease ISO RGD:1320965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767754 Galnt16 polypeptide N-acetylgalactosaminyltransferase 16 gene DOID:9008939 Breast Neoplasms ISO RGD:1320965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:736005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:0060071 pre-malignant neoplasm ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:9850086|REF_RGD_ID:9685350 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:0080365 endometrial hyperplasia ISO RGD:736005 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17352221|REF_RGD_ID:2298522 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:10283 prostate cancer ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:15894268|REF_RGD_ID:9685352 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:10286 prostate carcinoma ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:11406539|REF_RGD_ID:1582381 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:1059 intellectual disability ISO RGD:736005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:1073 renal hypertension ISO RGD:3100 D RGD:9068941 20200609 RGD protein:increased expression:kidney medulla PMID:12923405|REF_RGD_ID:1302333 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:10763 hypertension ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:19398663|REF_RGD_ID:9685347 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:10763 hypertension treatment ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:19398663|REF_RGD_ID:9685347 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:10763 hypertension treatment ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:19398663|REF_RGD_ID:9685347 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:12704 ataxia telangiectasia ISO RGD:736005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:1380 endometrial cancer disease_progression ISO RGD:736005 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17352221|REF_RGD_ID:2298522 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:13948 bladder neck obstruction treatment ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:23313213|REF_RGD_ID:7257549 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:2957 pulmonary tuberculosis ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24890593 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:3068 glioblastoma severity ISO RGD:736005 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:7616276|REF_RGD_ID:7207145 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736005 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19596921|REF_RGD_ID:5129528 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:4247 coronary restenosis treatment ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:21139058|REF_RGD_ID:9685362 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:5199 ureteral obstruction ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:5844 myocardial infarction ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:16769909|REF_RGD_ID:1582373 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:630 genetic disease ISO RGD:736005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25847246 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:21567117|PMID:21935365|REF_RGD_ID:9685338|REF_RGD_ID:9685370 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:17027671|REF_RGD_ID:2325934 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9001600 Wounds and Injuries ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:9888422|REF_RGD_ID:9685353 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:18209025|REF_RGD_ID:9685339 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:9549496|REF_RGD_ID:8547909 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9002801 Recurrence ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25596746 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:23100416|REF_RGD_ID:9685340 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9002928 Colonic Neoplasms ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9003139 Cardiac Fibrosis ISO RGD:3100 D RGD:9068941 20200609 RGD associated with Heart Failure PMID:12875773|REF_RGD_ID:9685341 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9003281 Spontaneous Abortions ISO RGD:736005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9004610 Acute Lung Injury ISO RGD:3100 D RGD:9068941 20200609 RGD associated with Sepsis PMID:21567117|REF_RGD_ID:9685338 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9005172 Lung Neoplasms ISO RGD:736005 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19596921|REF_RGD_ID:5129528 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:10906 D RGD:9068941 20200609 RGD PMID:9850086|REF_RGD_ID:9685350 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9005396 Intimal Hyperplasia ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:20098355|REF_RGD_ID:9685369 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9006081 Osteolysis ISO RGD:10906 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:15894268|REF_RGD_ID:9685352 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3100 D RGD:9068941 20200609 RGD PMID:9546322|REF_RGD_ID:9685357 8767773 Mmp7 matrix metallopeptidase 7 gene DOID:9007730 Burns ISO RGD:3100 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:15182445|REF_RGD_ID:9685358 8767798 Pipox pipecolic acid and sarcosine oxidase gene DOID:630 genetic disease ISO RGD:1322755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767798 Pipox pipecolic acid and sarcosine oxidase gene DOID:906 peroxisomal disease ISO RGD:1322755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10642506 8767810 LOC102015989 olfactory receptor 4E2 gene DOID:630 genetic disease ISO RGD:1352705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767810 LOC102015989 olfactory receptor 4E2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8767813 Emilin2 elastin microfibril interfacer 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8767813 Emilin2 elastin microfibril interfacer 2 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 8767813 Emilin2 elastin microfibril interfacer 2 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1313316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:28492532 8767813 Emilin2 elastin microfibril interfacer 2 gene DOID:1059 intellectual disability ISO RGD:1313316 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8767813 Emilin2 elastin microfibril interfacer 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8767813 Emilin2 elastin microfibril interfacer 2 gene DOID:630 genetic disease ISO RGD:1313316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767813 Emilin2 elastin microfibril interfacer 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8767813 Emilin2 elastin microfibril interfacer 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1313316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:15994876|PMID:23087183|PMID:28492532 8767826 Spag1 sperm associated antigen 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:24055112|PMID:25741868|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075 8767826 Spag1 sperm associated antigen 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:24055112|PMID:25741868|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075 8767826 Spag1 sperm associated antigen 1 gene DOID:0110607 primary ciliary dyskinesia 28 ISO RGD:1321762 D RGD:7240710 20180130 OMIM 8767826 Spag1 sperm associated antigen 1 gene DOID:0110607 primary ciliary dyskinesia 28 ISO RGD:1321762 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 PMID:16199547|PMID:17576681|PMID:24033266|PMID:24055112|PMID:25741868|PMID:26139845|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075|PMID:35178554|PMID:9536098 8767826 Spag1 sperm associated antigen 1 gene DOID:0111590 Cohen syndrome ISO RGD:1321762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8767826 Spag1 sperm associated antigen 1 gene DOID:630 genetic disease ISO RGD:1321762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8767826 Spag1 sperm associated antigen 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321762 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:24055112|PMID:25741868|PMID:26228299|PMID:27637300|PMID:28492532|PMID:30067075 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1322215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1322215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:26316326|PMID:28492532 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0050795 cone dystrophy ISO RGD:1322215 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:29184169 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322215 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0081292 traumatic brain injury ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0110005 Leber congenital amaurosis 9 ISO RGD:1322215 D RGD:7240710 20180130 OMIM 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0110005 Leber congenital amaurosis 9 ISO RGD:1322215 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 PMID:12734549|PMID:16199547|PMID:17576681|PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24791140|PMID:24830548|PMID:24940029|PMID:25412400|PMID:25741868|PMID:25988908|PMID:26018082|PMID:26047050|PMID:26103963|PMID:26316326|PMID:26464178|PMID:27032803|PMID:27422788|PMID:28041643|PMID:28369829|PMID:28453600|PMID:28492532|PMID:29074561|PMID:29178642|PMID:29184169|PMID:30004997|PMID:31054281|PMID:31630094|PMID:31877759|PMID:32037395|PMID:32150116|PMID:32165824|PMID:32533184|PMID:32581362|PMID:32865313|PMID:34837036|PMID:36140798|PMID:3691693|PMID:9536098 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1322215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis ISO RGD:1322215 D RGD:7240710 20210414 OMIM 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis ISO RGD:1322215 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: SHILCA SYNDROME PMID:22842227|PMID:22842230|PMID:22842231|PMID:25741868|PMID:26018082|PMID:28492532|PMID:32150116|PMID:32533184 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:11446 sciatic neuropathy ISO RGD:1310996 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion: PMID:16914673|REF_RGD_ID:13781948 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322215 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28492532|PMID:29184169|PMID:30004997|PMID:32150116|PMID:32533184|PMID:32581362 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:4448 macular degeneration ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842229 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:5723 optic atrophy ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842229 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:630 genetic disease ISO RGD:1322215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:8466 retinal degeneration ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842230 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:8466 retinal degeneration ISO RGD:1623222 D RGD:9068941 20220825 MouseDO 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:8501 fundus dystrophy ISO RGD:1322215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:26316326|PMID:27032803|PMID:28041643|PMID:28492532|PMID:29184169|PMID:30004997|PMID:32150116|PMID:32533184|PMID:32581362|PMID:32865313 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9004910 Hereditary Macular Coloboma ISO RGD:1322215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842230 8767852 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1322215 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28492532|PMID:29184169|PMID:30004997|PMID:32150116|PMID:32533184|PMID:32581362 8767863 Pax8 paired box 8 gene DOID:0050328 congenital hypothyroidism ISO RGD:730849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:16763387|PMID:25146893|PMID:26362610 8767863 Pax8 paired box 8 gene DOID:0070124 congenital nongoitrous hypothyroidism 2 ISO RGD:730849 D RGD:7240710 20180130 OMIM 8767863 Pax8 paired box 8 gene DOID:0070124 congenital nongoitrous hypothyroidism 2 ISO RGD:730849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2 PMID:11232006|PMID:11502839|PMID:12116225|PMID:15356023|PMID:15718293|PMID:17437516|PMID:17980011|PMID:20302910|PMID:23647375|PMID:25741868|PMID:28060725|PMID:28444304|PMID:28492532|PMID:29159607|PMID:30222900|PMID:9382140|PMID:9523167|PMID:9590296 8767863 Pax8 paired box 8 gene DOID:0080600 COVID-19 ISO RGD:730849 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8767863 Pax8 paired box 8 gene DOID:630 genetic disease ISO RGD:730849 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12116225|PMID:25741868|PMID:28444304|PMID:28492532|PMID:29159607|PMID:30222900 8767863 Pax8 paired box 8 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:730849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15785241 8767863 Pax8 paired box 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075790 8767863 Pax8 paired box 8 gene DOID:9970 obesity ISO RGD:730849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 8767896 Ccno cyclin O gene DOID:0110600 primary ciliary dyskinesia 29 ISO RGD:1346890 D RGD:7240710 20180130 OMIM 8767896 Ccno cyclin O gene DOID:0110600 primary ciliary dyskinesia 29 ISO RGD:1346890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CCNO-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 29 PMID:24747639|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523 8767896 Ccno cyclin O gene DOID:0110600 primary ciliary dyskinesia 29 ISO RGD:1346890 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CCNO-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 29 PMID:24747639|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30067075|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523 8767896 Ccno cyclin O gene DOID:2320 obstructive lung disease ISO RGD:1346890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747639 8767896 Ccno cyclin O gene DOID:630 genetic disease ISO RGD:1346890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8767896 Ccno cyclin O gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8767896 Ccno cyclin O gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346890 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:24033266|PMID:24747639|PMID:25741868|PMID:26139845|PMID:26777464|PMID:28492532|PMID:30067075|PMID:31650533|PMID:31879361|PMID:31980526|PMID:32367404|PMID:32622824|PMID:331765523|PMID:9536098 8767914 Hacd4 3-hydroxyacyl-CoA dehydratase 4 gene DOID:5419 schizophrenia ISO RGD:1601904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8767914 Hacd4 3-hydroxyacyl-CoA dehydratase 4 gene DOID:630 genetic disease ISO RGD:1601904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767924 Znf804b zinc finger protein 804B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8767924 Znf804b zinc finger protein 804B gene DOID:630 genetic disease ISO RGD:1601814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767931 Plekha1 pleckstrin homology domain containing A1 gene DOID:0080600 COVID-19 ISO RGD:1345011 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8767931 Plekha1 pleckstrin homology domain containing A1 gene DOID:2340 craniosynostosis ISO RGD:1345011 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 8767931 Plekha1 pleckstrin homology domain containing A1 gene DOID:630 genetic disease ISO RGD:1345011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8767931 Plekha1 pleckstrin homology domain containing A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8767982 Tcp11l2 t-complex 11 like 2 gene DOID:630 genetic disease ISO RGD:1605554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768006 Cfap68 cilia and flagella associated protein 68 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1345294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8768006 Cfap68 cilia and flagella associated protein 68 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1345294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 8768006 Cfap68 cilia and flagella associated protein 68 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1345294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8768006 Cfap68 cilia and flagella associated protein 68 gene DOID:1059 intellectual disability ISO RGD:1345294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8768006 Cfap68 cilia and flagella associated protein 68 gene DOID:12704 ataxia telangiectasia ISO RGD:1345294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8768006 Cfap68 cilia and flagella associated protein 68 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8768006 Cfap68 cilia and flagella associated protein 68 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1345294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8768047 Rpn1 ribophorin I gene DOID:0111947 immunodeficiency 21 ISO RGD:731637 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:22147895|PMID:23223431|PMID:28492532 8768047 Rpn1 ribophorin I gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8768047 Rpn1 ribophorin I gene DOID:630 genetic disease ISO RGD:731637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768047 Rpn1 ribophorin I gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708 8768047 Rpn1 ribophorin I gene DOID:9270 alkaptonuria ISO RGD:731637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8768067 Pfn4 profilin family member 4 gene DOID:630 genetic disease ISO RGD:1347216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768082 Omd osteomodulin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:736115 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 8768082 Omd osteomodulin gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:736115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 8768082 Omd osteomodulin gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:736115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 8768082 Omd osteomodulin gene DOID:630 genetic disease ISO RGD:736115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768094 LOC102028200 cytochrome c oxidase assembly factor 6 homolog gene DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ISO RGD:1352912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8768094 LOC102028200 cytochrome c oxidase assembly factor 6 homolog gene DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 ISO RGD:1352912 D RGD:7240710 20180130 OMIM 8768094 LOC102028200 cytochrome c oxidase assembly factor 6 homolog gene DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 ISO RGD:1352912 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 PMID:22277967|PMID:24549041|PMID:25339201|PMID:25741868|PMID:25959673|PMID:26160915|PMID:28492532 8768094 LOC102028200 cytochrome c oxidase assembly factor 6 homolog gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1352912 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 8768094 LOC102028200 cytochrome c oxidase assembly factor 6 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1352912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8768094 LOC102028200 cytochrome c oxidase assembly factor 6 homolog gene DOID:630 genetic disease ISO RGD:1352912 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8768094 LOC102028200 cytochrome c oxidase assembly factor 6 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8768107 Rabgap1 RAB GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1312283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768147 Mlkl mixed lineage kinase domain like pseudokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1352072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25741868 8768147 Mlkl mixed lineage kinase domain like pseudokinase gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1352072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic multifocal osteomyelitis 8768147 Mlkl mixed lineage kinase domain like pseudokinase gene DOID:607 paraplegia ISO RGD:1352072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8768147 Mlkl mixed lineage kinase domain like pseudokinase gene DOID:630 genetic disease ISO RGD:1352072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768147 Mlkl mixed lineage kinase domain like pseudokinase gene DOID:856 biotinidase deficiency ISO RGD:1352072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:25741868 8768147 Mlkl mixed lineage kinase domain like pseudokinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8768161 Fam171a1 family with sequence similarity 171 member A1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8768161 Fam171a1 family with sequence similarity 171 member A1 gene DOID:630 genetic disease ISO RGD:1313160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768184 Nkx6-1 NK6 homeobox 1 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1346979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8768184 Nkx6-1 NK6 homeobox 1 gene DOID:630 genetic disease ISO RGD:1346979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768184 Nkx6-1 NK6 homeobox 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69318 D RGD:9068941 20200609 RGD PMID:18687784|REF_RGD_ID:2311166 8768184 Nkx6-1 NK6 homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1346979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8768184 Nkx6-1 NK6 homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731728 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:0050476 Barth syndrome ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:731728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:731728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:731728 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:0112058 non-syndromic X-linked intellectual disability 41 ISO RGD:731728 D RGD:7240710 20180130 OMIM 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:0112058 non-syndromic X-linked intellectual disability 41 ISO RGD:731728 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 PMID:25559331|PMID:25741868|PMID:26975778|PMID:28492532|PMID:8826463|PMID:9106537|PMID:9620768|PMID:9668174 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:1059 intellectual disability ISO RGD:731728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:12849 autistic disorder ISO RGD:731728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:13628 favism ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:1561 cognitive disorder ISO RGD:10630 D RGD:9068941 20200609 RGD PMID:18829665|REF_RGD_ID:13208822 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:2468 psychotic disorder ISO RGD:731728 D RGD:9068941 20200609 RGD associated with Lupus Vasculitis, Central Nervous System PMID:20421581|REF_RGD_ID:13208821 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:731728 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:607 paraplegia ISO RGD:731728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:630 genetic disease ISO RGD:731728 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:9002720 Splenomegaly ISO RGD:731728 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:731728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8826463|PMID:9668174 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:731728 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.S396PfsX15 (human) PMID:22002931|REF_RGD_ID:13208827 8768195 Gdi1 GDP dissociation inhibitor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8768214 CUNH2orf73 chromosome unknown C2orf73 homolog gene DOID:630 genetic disease ISO RGD:1603909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732211 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:25741868|PMID:26477325|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:29758562|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514|PMID:33951346 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:732211 D RGD:7240710 20180130 OMIM 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:732211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 | ClinVar Annotator: match by term: KCNB1-related disorder PMID:17576681|PMID:19029374|PMID:25131622|PMID:25164438|PMID:25741868|PMID:26467025|PMID:26477325|PMID:26503721|PMID:26648591|PMID:27652284|PMID:27928161|PMID:28173649|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:29322350|PMID:29758562|PMID:31512327|PMID:31513310|PMID:3153310|PMID:31600826|PMID:31780880|PMID:31791873|PMID:32036363|PMID:32581362|PMID:32954514|PMID:33132203|PMID:33951346|PMID:34490615|PMID:35071126|PMID:35982159|PMID:8698327|PMID:9536098 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 exacerbates ISO RGD:732212 D RGD:9068941 20210507 RGD DNA:missense mutation:CDS:p.G379R (mouse) PMID:33132203|REF_RGD_ID:126908009 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 susceptibility ISO RGD:732211 D RGD:9068941 20210507 RGD DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human) PMID:28806457|REF_RGD_ID:126908008 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:1059 intellectual disability ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26477325|PMID:27652284|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362|PMID:32954514 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:12377 spinal muscular atrophy ISO RGD:732212 D RGD:9068941 20210507 RGD protein:decreased expression:second lumbar spinal cord segment, motor neuron, neuronal cell body (mouse) PMID:28504671|REF_RGD_ID:126908005 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy disease_progression ISO RGD:732212 D RGD:9068941 20210507 RGD PMID:24494598|REF_RGD_ID:126908006 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:1826 epilepsy susceptibility ISO RGD:732211 D RGD:9068941 20210507 RGD DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human) PMID:32954514|REF_RGD_ID:126908007 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:5419 schizophrenia ISO RGD:732211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26240432 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:630 genetic disease ISO RGD:732211 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1881453|PMID:23705070|PMID:25164438|PMID:25741868|PMID:27652284|PMID:28252636|PMID:28492532|PMID:28806457|PMID:29264397|PMID:29758562|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32954514|PMID:33144682|PMID:33951346|PMID:8398157|PMID:8541859|PMID:9526001 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2954 D RGD:9068941 20210507 RGD protein:decreased expression:tibial nerve, motor neuron, neuronal cell body (rat) PMID:24355600|REF_RGD_ID:126908004 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:732211 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25164438|PMID:25741868|PMID:26477325|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:3153310|PMID:31600826|PMID:32581362|PMID:32954514 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:28492532 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:732211 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Myoclonic absence seizure PMID:25741868|PMID:26477325|PMID:28492532|PMID:28806457|PMID:29264397|PMID:31512327|PMID:31513310|PMID:31600826|PMID:32581362 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9007114 Mobility Limitation ISO RGD:732211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:25741868|PMID:28492532|PMID:31600826|PMID:32954514 8768251 Kcnb1 potassium voltage-gated channel subfamily B member 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:732211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 8768257 Ccm2l CCM2 like scaffold protein gene DOID:630 genetic disease ISO RGD:1344204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768286 Eif1ax eukaryotic translation initiation factor 1A X-linked gene DOID:0060599 Nance-Horan syndrome ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8768286 Eif1ax eukaryotic translation initiation factor 1A X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8768286 Eif1ax eukaryotic translation initiation factor 1A X-linked gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8768286 Eif1ax eukaryotic translation initiation factor 1A X-linked gene DOID:0111042 glycogen storage disease IXA ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8768286 Eif1ax eukaryotic translation initiation factor 1A X-linked gene DOID:12849 autistic disorder ISO RGD:1351588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8768286 Eif1ax eukaryotic translation initiation factor 1A X-linked gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8768286 Eif1ax eukaryotic translation initiation factor 1A X-linked gene DOID:6039 uveal melanoma ISO RGD:1351588 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:23793026 8768286 Eif1ax eukaryotic translation initiation factor 1A X-linked gene DOID:630 genetic disease ISO RGD:1351588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768286 Eif1ax eukaryotic translation initiation factor 1A X-linked gene DOID:6438 malignant choroid melanoma ISO RGD:1351588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Choroidal melanoma PMID:25741868 8768286 Eif1ax eukaryotic translation initiation factor 1A X-linked gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 8768286 Eif1ax eukaryotic translation initiation factor 1A X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8768286 Eif1ax eukaryotic translation initiation factor 1A X-linked gene DOID:9538 multiple myeloma ISO RGD:1351588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8768297 Trmt12 tRNA methyltransferase 12 homolog gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1605990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8768297 Trmt12 tRNA methyltransferase 12 homolog gene DOID:630 genetic disease ISO RGD:1605990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:0060180 colitis susceptibility ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:20650341|REF_RGD_ID:5509936 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15309680 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:0080000 muscular disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19683050 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603006 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:737309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:1059 intellectual disability ISO RGD:737309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:10652 Alzheimer's disease ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1800206, p.L162V PMID:12938026|REF_RGD_ID:5561899 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:10652 Alzheimer's disease no_association ISO RGD:737309 D RGD:9068941 20200609 RGD No association found for any polymorphisms of PPARA, including rs1800206 PMID:17850927|REF_RGD_ID:5561928 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:10763 hypertension ISO RGD:3369 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19763017|REF_RGD_ID:2313778 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:10763 hypertension ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16054168|PMID:19834340 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:10763 hypertension treatment ISO RGD:3369 D RGD:9068941 20230824 RGD PMID:15967866|PMID:31489946|REF_RGD_ID:1580222|REF_RGD_ID:401793758 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:10908 hydrocephalus ISO RGD:3369 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats PMID:15964663|REF_RGD_ID:1624238 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:1168 familial hyperlipidemia ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21640707 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3369 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:12556 acute kidney tubular necrosis ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19834340 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:14566 disease of cellular proliferation ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17405874 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:1485 cystic fibrosis ISO RGD:737309 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression, decreased activity:peripheral blood lymphocytes PMID:16875506|REF_RGD_ID:5683626 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:305 carcinoma ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11137312 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:3146 lipid metabolism disorder ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L162V (human) PMID:10828087|REF_RGD_ID:1580230 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:3310 atopic dermatitis ISO RGD:732638 D RGD:9068941 20200609 RGD potential therapeutic target with or without glucocorticoid therapy PMID:21633371|REF_RGD_ID:5509940 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:3310 atopic dermatitis ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:3393 coronary artery disease susceptibility ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:snp:intron: (human) PMID:16043164|REF_RGD_ID:1580228 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:17888025|REF_RGD_ID:5563035 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:5419 schizophrenia ISO RGD:732638 D RGD:9068941 20220825 MouseDO OMIM:181500 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:557 kidney disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316343 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:576 proteinuria ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16054168 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:5844 myocardial infarction ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs4253623, minor allele associated with increased risk PMID:18549840|REF_RGD_ID:5562819 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:630 genetic disease ISO RGD:737309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:3369 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human) PMID:19119483|REF_RGD_ID:15042881 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732638 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human) PMID:19119483|REF_RGD_ID:15042881 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737309 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human) PMID:19119483|REF_RGD_ID:15042881 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:783 end stage renal disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:824 periodontitis ISO RGD:3369 D RGD:9068941 20200609 RGD possible therapeutic target PMID:21253492|REF_RGD_ID:5509938 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:8778 Crohn's disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11137312 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9000998 Brain Injuries ISO RGD:3369 D RGD:9068941 20200609 RGD agonist more effective in combination with simvastatin PMID:18562561|REF_RGD_ID:5508455 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:3369 D RGD:9068941 20230824 RGD PMID:31489946|REF_RGD_ID:401793758 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:732638 D RGD:9068941 20200609 RGD DNA:knockout::increased severity in knockouts PMID:15382117|REF_RGD_ID:5683636 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9002669 Hypoxia treatment ISO RGD:3369 D RGD:9068941 20230720 RGD mRNA, protein:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17261635 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9002906 Multiple Organ Failure severity ISO RGD:732638 D RGD:9068941 20200609 RGD associated with Drug Toxicity (CTD:0005347), Zymosan (CHEBI:37671); DNA:knockout::knockout increases severity PMID:17047518|REF_RGD_ID:5683625 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9003234 Hypertensive Nephropathy ISO RGD:3369 D RGD:9068941 20200609 RGD Strain: SHRSP PMID:20671072|REF_RGD_ID:5509943 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9003370 Dyslipidemias ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9003936 Cardiomegaly ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22198280 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004009 Reperfusion Injury ISO RGD:3369 D RGD:9068941 20200609 RGD liver ischemia/reperfusion injury PMID:21305343|REF_RGD_ID:5509942 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004009 Reperfusion Injury ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19151258 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004017 Chronic Hepatitis C ISO RGD:3369 D RGD:9068941 20200609 RGD associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human) PMID:15685545|REF_RGD_ID:5683635 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004017 Chronic Hepatitis C ISO RGD:732638 D RGD:9068941 20200609 RGD associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human) PMID:15685545|REF_RGD_ID:5683635 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004017 Chronic Hepatitis C ISO RGD:737309 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver hepatocytes PMID:15685545|REF_RGD_ID:5683635 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004484 Sepsis severity ISO RGD:732638 D RGD:9068941 20200609 RGD DNA:knockout::associated with more severe disease PMID:22089192|REF_RGD_ID:5562037 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004484 Sepsis severity ISO RGD:737309 D RGD:9068941 20200609 RGD RNA:decreased expression:blood:associated with more severe disease PMID:22089192|REF_RGD_ID:5562037 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737309 D RGD:9068941 20200609 RGD DNA:snp:intron: (human) PMID:11864924|REF_RGD_ID:1580229 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11137312 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9005369 Hepatomegaly ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14982965 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9005372 Inflammation ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21300114 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12967931|PMID:14563825|PMID:23090186 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9005911 Hyperapobetalipoproteinemia ISO RGD:737309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to PMID:10828087|PMID:12006394|PMID:15309680 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9006599 Hypertriglyceridemia ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15309680 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9006646 Metabolic Syndrome ISO RGD:3369 D RGD:9068941 20231005 RGD mRNA:decreased expression:liver (rat) PMID:11934685|REF_RGD_ID:628329 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:732638 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19683050 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18703563 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:3369 D RGD:9068941 20200609 RGD Strain: ZDF PMID:19317897|REF_RGD_ID:5509944 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007188 Liver Neoplasms ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20143881|PMID:29134746 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007346 Cachexia ISO RGD:737309 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA:decreased expression:skeletal muscle PMID:17459894|REF_RGD_ID:5683621 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732638 D RGD:9068941 20200609 RGD LPS-induced acute liver damage PMID:21262334|REF_RGD_ID:5509941 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24385052 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007571 Hyperlipoproteinemias ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10828087 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007692 Insulin Resistance ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:19322024|REF_RGD_ID:5683642 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007692 Insulin Resistance ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052|PMID:21324916 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16411023 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17317762|PMID:31626838 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9427 hypertensive encephalopathy ISO RGD:3369 D RGD:9068941 20200609 RGD Strain: SHRSP PMID:20671072|REF_RGD_ID:5509943 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9452 steatotic liver disease ISO RGD:3369 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) PMID:16393287|REF_RGD_ID:15042851 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9452 steatotic liver disease ISO RGD:732638 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus (CTD:0000249); in high fat-fed foz/foz obese/diabetic mice PMID:21929649|REF_RGD_ID:5509939 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9452 steatotic liver disease ISO RGD:732638 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) PMID:16393287|REF_RGD_ID:15042851 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9452 steatotic liver disease ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19124612 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9452 steatotic liver disease ISO RGD:737309 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:decreased expression:liver (human) PMID:16393287|REF_RGD_ID:15042851 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:732638 D RGD:9068941 20200609 RGD PMID:19472040|REF_RGD_ID:2313779 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9970 obesity ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11089532|PMID:30738174 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9970 obesity treatment ISO RGD:3369 D RGD:9068941 20230720 RGD mRNA, protein:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8768302 Ppara peroxisome proliferator activated receptor alpha gene DOID:9993 hypoglycemia ISO RGD:737309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16777972 8768325 Fam110a family with sequence similarity 110 member A gene DOID:630 genetic disease ISO RGD:1318939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768336 Otol1 otolin 1 gene DOID:630 genetic disease ISO RGD:4140314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768343 Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:731609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:25741868|PMID:28492532 8768343 Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:0080128 mitochondrial DNA depletion syndrome 9 ISO RGD:731609 D RGD:7240710 20180130 OMIM 8768343 Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:0080128 mitochondrial DNA depletion syndrome 9 ISO RGD:731609 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 PMID:16199547|PMID:17287286|PMID:17576681|PMID:17668387|PMID:19526370|PMID:20197121|PMID:20227526|PMID:20453710|PMID:20693550|PMID:21093335|PMID:21639866|PMID:22980518|PMID:25326635|PMID:25741868|PMID:26475597|PMID:26827111|PMID:27484306|PMID:27896121|PMID:28492532|PMID:29217198|PMID:30470562|PMID:33230783|PMID:34023347|PMID:34988976|PMID:35094435|PMID:9536098 8768343 Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:630 genetic disease ISO RGD:731609 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8768343 Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:731609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8768343 Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha gene DOID:9000918 Disease Progression ISO RGD:731609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8768360 Neurog1 neurogenin 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352814 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8768360 Neurog1 neurogenin 1 gene DOID:630 genetic disease ISO RGD:1352814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768360 Neurog1 neurogenin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8768360 Neurog1 neurogenin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8768360 Neurog1 neurogenin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352814 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8768360 Neurog1 neurogenin 1 gene DOID:9008019 CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY ISO RGD:1352814 D RGD:7240710 20230920 OMIM 8768360 Neurog1 neurogenin 1 gene DOID:9008019 CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY ISO RGD:1352814 D RGD:8554872 20230919 ClinVar ClinVar Annotator: match by term: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay PMID:25741868|PMID:26077850|PMID:33439489|PMID:36647078 8768365 Rbm18 RNA binding motif protein 18 gene DOID:630 genetic disease ISO RGD:1316593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768375 Syp synaptophysin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8768375 Syp synaptophysin gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8768375 Syp synaptophysin gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:737494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8768375 Syp synaptophysin gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 8768375 Syp synaptophysin gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 8768375 Syp synaptophysin gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8768375 Syp synaptophysin gene DOID:0112035 non-syndromic X-linked intellectual disability 96 ISO RGD:737494 D RGD:7240710 20180130 OMIM 8768375 Syp synaptophysin gene DOID:0112035 non-syndromic X-linked intellectual disability 96 ISO RGD:737494 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 PMID:19377476|PMID:23966691|PMID:25741868 8768375 Syp synaptophysin gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:737494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8768375 Syp synaptophysin gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:737494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8768375 Syp synaptophysin gene DOID:10652 Alzheimer's disease ISO RGD:11373 D RGD:9068941 20200609 RGD denntate gyrus, hippocampus, entorhinal cortex PMID:20847448|REF_RGD_ID:13506238 8768375 Syp synaptophysin gene DOID:10652 Alzheimer's disease ISO RGD:3802 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus, temporal cortex PMID:20847448|REF_RGD_ID:13506238 8768375 Syp synaptophysin gene DOID:10652 Alzheimer's disease ISO RGD:737494 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: PMID:20847448|REF_RGD_ID:13506238 8768375 Syp synaptophysin gene DOID:12849 autistic disorder ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8768375 Syp synaptophysin gene DOID:1574 alcohol use disorder sexual_dimorphism ISO RGD:3802 D RGD:9068941 20240201 RGD associated with chronic stress in female rats PMID:27894930|REF_RGD_ID:401959751 8768375 Syp synaptophysin gene DOID:3908 lung non-small cell carcinoma ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21595568 8768375 Syp synaptophysin gene DOID:5419 schizophrenia ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11483314 8768375 Syp synaptophysin gene DOID:5463 cochlear disease IEP D RGD:11554034|PMID:12429223 20161019 RGD 8768375 Syp synaptophysin gene DOID:630 genetic disease ISO RGD:737494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768375 Syp synaptophysin gene DOID:8927 learning disability ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 8768375 Syp synaptophysin gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:3802 D RGD:9068941 20240201 RGD PMID:27894930|REF_RGD_ID:401959751 8768375 Syp synaptophysin gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19377476 8768375 Syp synaptophysin gene DOID:9008023 Memory Disorders ISO RGD:737494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 8768386 Stmn2 stathmin 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:732607 D RGD:9068941 20230914 MouseDO 8768386 Stmn2 stathmin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732607 D RGD:9068941 20230914 MouseDO 8768386 Stmn2 stathmin 2 gene DOID:630 genetic disease ISO RGD:69000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768386 Stmn2 stathmin 2 gene DOID:870 neuropathy ISO RGD:732607 D RGD:9068941 20230914 MouseDO 8768400 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:733987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8768400 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:1059 intellectual disability ISO RGD:733987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8768400 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:1826 epilepsy ISO RGD:733987 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30290154 8768400 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:3070 high grade glioma ISO RGD:733987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8768400 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:630 genetic disease ISO RGD:733987 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8768400 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:9006075 Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome ISO RGD:733987 D RGD:7240710 20190424 OMIM 8768400 Kcnk4 potassium two pore domain channel subfamily K member 4 gene DOID:9006075 Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome ISO RGD:733987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | ClinVar Annotator: match by term: KCNK4-related condition PMID:25741868|PMID:28492532|PMID:30290154 8768436 Dpy19l4 dpy-19 like 4 gene DOID:630 genetic disease ISO RGD:1606660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768459 Armc10 armadillo repeat containing 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8768459 Armc10 armadillo repeat containing 10 gene DOID:630 genetic disease ISO RGD:1605608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768483 Dlgap3 DLG associated protein 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8768500 Tyrobp transmembrane immune signaling adaptor TYROBP gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:7240710 20180130 OMIM 8768500 Tyrobp transmembrane immune signaling adaptor TYROBP gene DOID:0090112 Nasu-Hakola disease ISO RGD:1351113 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PMID:10888890|PMID:11109371|PMID:12370476|PMID:15883308|PMID:17125796|PMID:20500450|PMID:22082900|PMID:25741868|PMID:27658901|PMID:28492532|PMID:28620717|PMID:31996268|PMID:36133075 8768500 Tyrobp transmembrane immune signaling adaptor TYROBP gene DOID:0110222 Brugada syndrome 5 ISO RGD:1351113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8768500 Tyrobp transmembrane immune signaling adaptor TYROBP gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1351113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8768500 Tyrobp transmembrane immune signaling adaptor TYROBP gene DOID:409 liver disease ISO RGD:1351113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12651611 8768500 Tyrobp transmembrane immune signaling adaptor TYROBP gene DOID:630 genetic disease ISO RGD:1351113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8768500 Tyrobp transmembrane immune signaling adaptor TYROBP gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1303081 D RGD:9068941 20210604 RGD PMID:27049384|REF_RGD_ID:127229930 8768500 Tyrobp transmembrane immune signaling adaptor TYROBP gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8768500 Tyrobp transmembrane immune signaling adaptor TYROBP gene DOID:9008023 Memory Disorders ISO RGD:1351113 D RGD:8554872 20230103 ClinVar ClinVar Annotator: match by term: Memory impairment PMID:25741868 8768515 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:0111952 immunodeficiency 57 ISO RGD:1320896 D RGD:7240710 20190410 OMIM 8768515 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:0111952 immunodeficiency 57 ISO RGD:1320896 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | ClinVar Annotator: match by term: Immunodeficiency 57 PMID:25741868|PMID:28492532|PMID:30026316|PMID:30591564|PMID:31213653|PMID:32181283|PMID:36466854 8768515 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320897 D RGD:9068941 20200609 RGD PMID:22908283|REF_RGD_ID:7777166 8768515 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1320896 D RGD:9068941 20200609 RGD PMID:19778795|REF_RGD_ID:7777170 8768515 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:1826 epilepsy ameliorates ISO RGD:1310158 D RGD:9068941 20230216 RGD PMID:32308116|REF_RGD_ID:156420143 8768515 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8768515 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1320896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8768515 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:9004604 Autoinflammation with Episodic Fever and Lymphadenopathy ISO RGD:1320896 D RGD:7240710 20200708 OMIM 8768515 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:9004604 Autoinflammation with Episodic Fever and Lymphadenopathy ISO RGD:1320896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition PMID:25741868|PMID:28492532|PMID:31827280|PMID:31827281 8768515 Ripk1 receptor interacting serine/threonine kinase 1 gene DOID:9201 lichen planus ISO RGD:1320896 D RGD:9068941 20200609 RGD PMID:20368033|REF_RGD_ID:7777168 8768533 P2ry2 purinergic receptor P2Y2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1352486 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8768533 P2ry2 purinergic receptor P2Y2 gene DOID:1059 intellectual disability ISO RGD:1352486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8768533 P2ry2 purinergic receptor P2Y2 gene DOID:1875 impotence ISO RGD:62088 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19303093|REF_RGD_ID:2315809 8768533 P2ry2 purinergic receptor P2Y2 gene DOID:630 genetic disease ISO RGD:1352486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768533 P2ry2 purinergic receptor P2Y2 gene DOID:9007993 Dehydration ISO RGD:62088 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:inner renal medulla PMID:15687250|REF_RGD_ID:2316687 8768551 Gsc2 goosecoid homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8768551 Gsc2 goosecoid homeobox 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1313301 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8768551 Gsc2 goosecoid homeobox 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1313301 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8768551 Gsc2 goosecoid homeobox 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1313301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8768551 Gsc2 goosecoid homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8768551 Gsc2 goosecoid homeobox 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1313301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8768551 Gsc2 goosecoid homeobox 2 gene DOID:11372 megacolon ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8768551 Gsc2 goosecoid homeobox 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1313301 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8768551 Gsc2 goosecoid homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8768551 Gsc2 goosecoid homeobox 2 gene DOID:1826 epilepsy ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8768551 Gsc2 goosecoid homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8768551 Gsc2 goosecoid homeobox 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8768551 Gsc2 goosecoid homeobox 2 gene DOID:630 genetic disease ISO RGD:1313301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768551 Gsc2 goosecoid homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8768551 Gsc2 goosecoid homeobox 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1313301 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8768556 Slc6a7 solute carrier family 6 member 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8768556 Slc6a7 solute carrier family 6 member 7 gene DOID:630 genetic disease ISO RGD:734004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768556 Slc6a7 solute carrier family 6 member 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8768577 LOC102018712 olfactory receptor 51F2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1317227 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8768577 LOC102018712 olfactory receptor 51F2 gene DOID:630 genetic disease ISO RGD:1317227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768580 Kmo kynurenine 3-monooxygenase gene DOID:0111261 fumarase deficiency ISO RGD:737300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 8768580 Kmo kynurenine 3-monooxygenase gene DOID:1540 parathyroid carcinoma ISO RGD:737300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8768580 Kmo kynurenine 3-monooxygenase gene DOID:1596 depressive disorder ISO RGD:620610 D RGD:9068941 20200609 RGD protein:decreased activity:plasma PMID:29217494|REF_RGD_ID:13703051 8768580 Kmo kynurenine 3-monooxygenase gene DOID:3042 allergic contact dermatitis ISO RGD:737300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8768580 Kmo kynurenine 3-monooxygenase gene DOID:5419 schizophrenia ISO RGD:737300 D RGD:9068941 20200609 RGD protein:decreased activity:brain: PMID:21036897|REF_RGD_ID:13513905 8768580 Kmo kynurenine 3-monooxygenase gene DOID:5419 schizophrenia treatment ISO RGD:620610 D RGD:9068941 20200609 RGD PMID:29030243|REF_RGD_ID:13703052 8768580 Kmo kynurenine 3-monooxygenase gene DOID:630 genetic disease ISO RGD:737300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768580 Kmo kynurenine 3-monooxygenase gene DOID:9000039 Spinal Cord Injuries ISO RGD:620610 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:26524415|REF_RGD_ID:13703043 8768580 Kmo kynurenine 3-monooxygenase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8768580 Kmo kynurenine 3-monooxygenase gene DOID:9002211 Hyperalgesia treatment ISO RGD:620610 D RGD:9068941 20200609 RGD PMID:26524415|REF_RGD_ID:13703043 8768580 Kmo kynurenine 3-monooxygenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8768580 Kmo kynurenine 3-monooxygenase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:737300 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 8768580 Kmo kynurenine 3-monooxygenase gene DOID:9007558 Acute Experimental Pancreatitis disease_progression ISO RGD:620610 D RGD:9068941 20200609 RGD PMID:28398044|REF_RGD_ID:13703053 8768580 Kmo kynurenine 3-monooxygenase gene DOID:9007558 Acute Experimental Pancreatitis disease_progression ISO RGD:734253 D RGD:9068941 20200609 RGD PMID:26752518|REF_RGD_ID:11342439 8768580 Kmo kynurenine 3-monooxygenase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8768599 Slc25a46 solute carrier family 25 member 46 gene DOID:0050952 spastic ataxia ISO RGD:1606754 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:31847883|PMID:34445196 8768599 Slc25a46 solute carrier family 25 member 46 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:1332229 D RGD:9068941 20220825 MouseDO OMIM:601152 | OMIM:616505 8768599 Slc25a46 solute carrier family 25 member 46 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606754 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8768599 Slc25a46 solute carrier family 25 member 46 gene DOID:0112330 pontocerebellar hypoplasia type 1E ISO RGD:1606754 D RGD:7240710 20210526 OMIM 8768599 Slc25a46 solute carrier family 25 member 46 gene DOID:0112330 pontocerebellar hypoplasia type 1E ISO RGD:1606754 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1E PMID:16199547|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27390132|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:28637197|PMID:28653766|PMID:33816684|PMID:8147499 8768599 Slc25a46 solute carrier family 25 member 46 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1606754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 8768599 Slc25a46 solute carrier family 25 member 46 gene DOID:5723 optic atrophy ISO RGD:1606754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26168012 8768599 Slc25a46 solute carrier family 25 member 46 gene DOID:630 genetic disease ISO RGD:1606754 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:31847883|PMID:32259769|PMID:33841295|PMID:34445196|PMID:9536098 8768599 Slc25a46 solute carrier family 25 member 46 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8768599 Slc25a46 solute carrier family 25 member 46 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606754 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8768599 Slc25a46 solute carrier family 25 member 46 gene DOID:9008547 Charcot-Marie-Tooth Disease Type 6B ISO RGD:1606754 D RGD:7240710 20190911 OMIM 8768599 Slc25a46 solute carrier family 25 member 46 gene DOID:9008547 Charcot-Marie-Tooth Disease Type 6B ISO RGD:1606754 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26168012|PMID:26951855|PMID:27430653|PMID:27543974|PMID:28369803|PMID:28492532|PMID:28558379|PMID:28653766|PMID:31607746|PMID:31847883|PMID:32259769|PMID:33369814|PMID:33816684|PMID:33841295|PMID:34445196|PMID:9536098 8768611 Nup214 nucleoporin 214 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8768611 Nup214 nucleoporin 214 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1316779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 8768611 Nup214 nucleoporin 214 gene DOID:10907 microcephaly ISO RGD:1316779 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868|PMID:31178128 8768611 Nup214 nucleoporin 214 gene DOID:630 genetic disease ISO RGD:1316779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8768611 Nup214 nucleoporin 214 gene DOID:9001487 Facies ISO RGD:1316779 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: facial dysmorphism 8768611 Nup214 nucleoporin 214 gene DOID:9002011 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 ISO RGD:1316779 D RGD:7240710 20240320 OMIM 8768611 Nup214 nucleoporin 214 gene DOID:9002011 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 ISO RGD:1316779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 9 PMID:25741868|PMID:30758658|PMID:31178128 8768611 Nup214 nucleoporin 214 gene DOID:9006257 Growth Disorders ISO RGD:1316779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 8768611 Nup214 nucleoporin 214 gene DOID:9008086 Developmental Disabilities ISO RGD:1316779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay 8768611 Nup214 nucleoporin 214 gene DOID:9008582 Developmental Disease ISO RGD:1316779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8768611 Nup214 nucleoporin 214 gene DOID:9119 acute myeloid leukemia ISO RGD:1316779 D RGD:7240710 20240320 OMIM 8768611 Nup214 nucleoporin 214 gene DOID:936 brain disease ISO RGD:1316779 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8768611 Nup214 nucleoporin 214 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316779 D RGD:7240710 20240320 OMIM 8768659 Thap12 THAP domain containing 12 gene DOID:1059 intellectual disability ISO RGD:1320154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8768659 Thap12 THAP domain containing 12 gene DOID:630 genetic disease ISO RGD:1320154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768678 Ints5 integrator complex subunit 5 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1603295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 8768678 Ints5 integrator complex subunit 5 gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1603295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease 8768678 Ints5 integrator complex subunit 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8768678 Ints5 integrator complex subunit 5 gene DOID:1059 intellectual disability ISO RGD:1603295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8768678 Ints5 integrator complex subunit 5 gene DOID:630 genetic disease ISO RGD:1603295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768683 Veph1 ventricular zone expressed PH domain containing 1 gene DOID:630 genetic disease ISO RGD:1353776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768717 Trub2 TruB pseudouridine synthase family member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8768717 Trub2 TruB pseudouridine synthase family member 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8768717 Trub2 TruB pseudouridine synthase family member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8768717 Trub2 TruB pseudouridine synthase family member 2 gene DOID:630 genetic disease ISO RGD:1346955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768729 Slc7a10 solute carrier family 7 member 10 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:731925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8768729 Slc7a10 solute carrier family 7 member 10 gene DOID:630 genetic disease ISO RGD:731925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768729 Slc7a10 solute carrier family 7 member 10 gene DOID:9119 acute myeloid leukemia ISO RGD:731925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 8768755 LOC102025968 cytochrome c oxidase assembly factor 3 homolog, mitochondrial gene DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 ISO RGD:1606307 D RGD:7240710 20201111 OMIM 8768755 LOC102025968 cytochrome c oxidase assembly factor 3 homolog, mitochondrial gene DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 ISO RGD:1606307 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 8768755 LOC102025968 cytochrome c oxidase assembly factor 3 homolog, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1606307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25604084 8768755 LOC102025968 cytochrome c oxidase assembly factor 3 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:1606307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8768761 Exoc5 exocyst complex component 5 gene DOID:0070314 obstructive nephropathy ISO RGD:1622168 D RGD:9068941 20220825 MouseDO 8768761 Exoc5 exocyst complex component 5 gene DOID:630 genetic disease ISO RGD:731494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768783 Nt5c1a 5'-nucleotidase, cytosolic IA gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8768783 Nt5c1a 5'-nucleotidase, cytosolic IA gene DOID:630 genetic disease ISO RGD:1322084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768814 Ppa2 inorganic pyrophosphatase 2 gene DOID:630 genetic disease ISO RGD:1604365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:31705601|PMID:33028643|PMID:33826954|PMID:34400813 8768814 Ppa2 inorganic pyrophosphatase 2 gene DOID:9003269 Sudden Cardiac Failure, Infantile ISO RGD:1604365 D RGD:7240710 20190315 OMIM 8768814 Ppa2 inorganic pyrophosphatase 2 gene DOID:9003269 Sudden Cardiac Failure, Infantile ISO RGD:1604365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac failure, infantile PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:31705601|PMID:33028643|PMID:33826954|PMID:34400813 8768814 Ppa2 inorganic pyrophosphatase 2 gene DOID:9004710 Alcohol-Induced Sudden Cardiac Failure ISO RGD:1604365 D RGD:7240710 20190315 OMIM 8768814 Ppa2 inorganic pyrophosphatase 2 gene DOID:9004710 Alcohol-Induced Sudden Cardiac Failure ISO RGD:1604365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:31705601|PMID:33028643|PMID:34400813 8768829 Ccndbp1 cyclin D1 binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1312246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8768829 Ccndbp1 cyclin D1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1312246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768829 Ccndbp1 cyclin D1 binding protein 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1312246 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16501603 8768829 Ccndbp1 cyclin D1 binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1312246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8768844 Kat5 lysine acetyltransferase 5 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:732354 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:25741868 8768844 Kat5 lysine acetyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:732354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8768844 Kat5 lysine acetyltransferase 5 gene DOID:11758 iron deficiency anemia ISO RGD:621061 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:18723004|REF_RGD_ID:2301196 8768844 Kat5 lysine acetyltransferase 5 gene DOID:1612 breast cancer severity ISO RGD:732354 D RGD:9068941 20200609 RGD mRNA:altered expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 8768844 Kat5 lysine acetyltransferase 5 gene DOID:1790 malignant mesothelioma ISO RGD:732354 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:26780987 8768844 Kat5 lysine acetyltransferase 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8768844 Kat5 lysine acetyltransferase 5 gene DOID:2746 glycogen storage disease V ISO RGD:732354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8768844 Kat5 lysine acetyltransferase 5 gene DOID:630 genetic disease ISO RGD:732354 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8768844 Kat5 lysine acetyltransferase 5 gene DOID:707 B-cell lymphoma severity ISO RGD:1550306 D RGD:9068941 20200609 RGD PMID:17728759|REF_RGD_ID:9588481 8768844 Kat5 lysine acetyltransferase 5 gene DOID:9000615 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ISO RGD:732354 D RGD:7240710 20210120 OMIM 8768844 Kat5 lysine acetyltransferase 5 gene DOID:9000615 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ISO RGD:732354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities PMID:25741868|PMID:32822602 8768844 Kat5 lysine acetyltransferase 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732354 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, nucleus (human) PMID:23056207|REF_RGD_ID:9588480 8768844 Kat5 lysine acetyltransferase 5 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8768844 Kat5 lysine acetyltransferase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732354 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8768844 Kat5 lysine acetyltransferase 5 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:25741868|PMID:28492532|PMID:28600438 8768871 Cdca4 cell division cycle associated 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1348557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8768871 Cdca4 cell division cycle associated 4 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1348557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8768871 Cdca4 cell division cycle associated 4 gene DOID:630 genetic disease ISO RGD:1348557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768883 Vstm4 V-set and transmembrane domain containing 4 gene DOID:11372 megacolon ISO RGD:1321317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8768883 Vstm4 V-set and transmembrane domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1321317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8768883 Vstm4 V-set and transmembrane domain containing 4 gene DOID:630 genetic disease ISO RGD:1321317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0050572 cone-rod dystrophy ISO RGD:1606119 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:36909829 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0050817 Stargardt disease ISO RGD:1606119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STGD PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0050817 Stargardt disease ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STGD PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:1606119 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:25741868 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1606119 D RGD:7240710 20180130 OMIM 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1606119 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:15074367|PMID:16199547|PMID:17564970|PMID:17576681|PMID:18414213|PMID:18850119|PMID:19177532|PMID:19201763|PMID:19277732|PMID:20826447|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26681805|PMID:27146152|PMID:27848944|PMID:27884173|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28708303|PMID:28794409|PMID:29389947|PMID:29655203|PMID:29924869|PMID:30382371|PMID:30548430|PMID:31006324|PMID:31216804|PMID:31489614|PMID:31597037|PMID:31618753|PMID:31721179|PMID:31741823|PMID:32005694|PMID:32037395|PMID:32399599|PMID:32581362|PMID:33084218|PMID:33546218|PMID:34828358|PMID:34910516|PMID:35087090|PMID:9177532|PMID:9536098 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1606119 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218|PMID:34828358 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:10584 retinitis pigmentosa ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:1059 intellectual disability ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:11832 visual epilepsy ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:19277732|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:29924869|PMID:31006324|PMID:32581362|PMID:33546218 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:19201763|PMID:19277732|PMID:22668694|PMID:25333361|PMID:25741868|PMID:26075876|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:34910516|PMID:35087090 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:19201763|PMID:19277732|PMID:21990111|PMID:22668694|PMID:25333361|PMID:25741868|PMID:26075876|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:34910516|PMID:35087090 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:1826 epilepsy ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:30382371 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:630 genetic disease ISO RGD:1606119 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:19177532|PMID:19201763|PMID:19277732|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28708303|PMID:29924869|PMID:30382371|PMID:31006324|PMID:31489614|PMID:32037395|PMID:32581362|PMID:33546218|PMID:34828358 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:8501 fundus dystrophy ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19177532|PMID:25227500|PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:28492532 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:9004170 Macular Dystrophy with Central Cone Involvement ISO RGD:1606119 D RGD:7240710 20180130 OMIM 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:9004170 Macular Dystrophy with Central Cone Involvement ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy with central cone involvement PMID:16199547|PMID:17564970|PMID:17576681|PMID:19177532|PMID:19201763|PMID:21990111|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25741868|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:31006324|PMID:31597037|PMID:32037395|PMID:32581362|PMID:33546218|PMID:35457110|PMID:9536098 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:9006534 Nervous System Malformations ISO RGD:1606119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:17576681|PMID:25741868|PMID:28492532|PMID:31216804|PMID:9536098 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1606119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362 8768901 Mfsd8 major facilitator superfamily domain containing 8 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1606119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:25333361|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32037395|PMID:32581362 8768925 Doc2b double C2 domain beta gene DOID:630 genetic disease ISO RGD:732162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768942 Sowahd sosondowah ankyrin repeat domain family member D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8768942 Sowahd sosondowah ankyrin repeat domain family member D gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1606099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8768942 Sowahd sosondowah ankyrin repeat domain family member D gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1606099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8768942 Sowahd sosondowah ankyrin repeat domain family member D gene DOID:0080600 COVID-19 ISO RGD:1606099 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8768942 Sowahd sosondowah ankyrin repeat domain family member D gene DOID:12849 autistic disorder ISO RGD:1606099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8768942 Sowahd sosondowah ankyrin repeat domain family member D gene DOID:630 genetic disease ISO RGD:1606099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768951 Klhl2 kelch like family member 2 gene DOID:630 genetic disease ISO RGD:1314975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768970 Nelfb negative elongation factor complex member B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8768970 Nelfb negative elongation factor complex member B gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8768970 Nelfb negative elongation factor complex member B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8768970 Nelfb negative elongation factor complex member B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8768970 Nelfb negative elongation factor complex member B gene DOID:0081097 Rafiq syndrome ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8768970 Nelfb negative elongation factor complex member B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603677 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8768970 Nelfb negative elongation factor complex member B gene DOID:1826 epilepsy ISO RGD:1603677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8768970 Nelfb negative elongation factor complex member B gene DOID:630 genetic disease ISO RGD:1603677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768970 Nelfb negative elongation factor complex member B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8768987 Hes3 hes family bHLH transcription factor 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604433 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8768987 Hes3 hes family bHLH transcription factor 3 gene DOID:630 genetic disease ISO RGD:1604433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768987 Hes3 hes family bHLH transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8768992 Dhfr dihydrofolate reductase gene DOID:0080412 familial adenomatous polyposis 4 ISO RGD:736871 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 4 PMID:20154325|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28492532|PMID:37402566 8768992 Dhfr dihydrofolate reductase gene DOID:12450 pancytopenia ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21310276 8768992 Dhfr dihydrofolate reductase gene DOID:12849 autistic disorder ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597297 8768992 Dhfr dihydrofolate reductase gene DOID:1324 lung cancer ISO RGD:736871 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:28492532 8768992 Dhfr dihydrofolate reductase gene DOID:13382 megaloblastic anemia ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21310276|PMID:21310277 8768992 Dhfr dihydrofolate reductase gene DOID:1380 endometrial cancer ISO RGD:736871 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: MSH3-related condition PMID:25741868|PMID:26467025|PMID:28492532|PMID:29641532|PMID:36652909 8768992 Dhfr dihydrofolate reductase gene DOID:14026 folic acid deficiency anemia ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21310277 8768992 Dhfr dihydrofolate reductase gene DOID:2871 endometrial carcinoma ISO RGD:736871 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:16199547|PMID:17576681|PMID:20154325|PMID:25741868|PMID:26467025|PMID:27476653|PMID:28492532|PMID:29641532|PMID:36652909|PMID:37402566|PMID:9536098 8768992 Dhfr dihydrofolate reductase gene DOID:3347 osteosarcoma ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 8768992 Dhfr dihydrofolate reductase gene DOID:4435 cavernous sinus meningioma ISO RGD:736871 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cavernous sinus meningioma PMID:25741868|PMID:26467025|PMID:28492532|PMID:31371350|PMID:31627758 8768992 Dhfr dihydrofolate reductase gene DOID:630 genetic disease ISO RGD:736871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8768992 Dhfr dihydrofolate reductase gene DOID:655 inherited metabolic disorder ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21310276|PMID:21310277 8768992 Dhfr dihydrofolate reductase gene DOID:684 hepatocellular carcinoma ISO RGD:736871 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:28492532 8768992 Dhfr dihydrofolate reductase gene DOID:7148 rheumatoid arthritis ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 8768992 Dhfr dihydrofolate reductase gene DOID:863 nervous system disease ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136|PMID:21310277 8768992 Dhfr dihydrofolate reductase gene DOID:8692 myeloid leukemia ISO RGD:10471 D RGD:9068941 20200609 RGD PMID:12649191|REF_RGD_ID:11039541 8768992 Dhfr dihydrofolate reductase gene DOID:9000965 Neoplasm Metastasis ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 8768992 Dhfr dihydrofolate reductase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:2500 D RGD:9068941 20200609 RGD PMID:8149482|REF_RGD_ID:11040442 8768992 Dhfr dihydrofolate reductase gene DOID:9003281 Spontaneous Abortions ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8768992 Dhfr dihydrofolate reductase gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:736871 D RGD:7240710 20180130 OMIM 8768992 Dhfr dihydrofolate reductase gene DOID:9003312 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency ISO RGD:736871 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: DHFR DEFICIENCY | ClinVar Annotator: match by term: Megaloblastic anemia due to dihydrofolate reductase deficiency PMID:1060915|PMID:1099447|PMID:21310276|PMID:21310277|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31371350|PMID:31627758|PMID:6700662 8768992 Dhfr dihydrofolate reductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8768992 Dhfr dihydrofolate reductase gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2500 D RGD:9068941 20230727 RGD mRNA,protein:decreased expression:kidney: PMID:18408363|REF_RGD_ID:11040540 8768992 Dhfr dihydrofolate reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 8768992 Dhfr dihydrofolate reductase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736871 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:24033266|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:31371350|PMID:31627758|PMID:9536098 8768992 Dhfr dihydrofolate reductase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736871 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:20154325|PMID:24033266|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:29641532|PMID:31371350|PMID:31627758|PMID:33332384|PMID:9536098 8768992 Dhfr dihydrofolate reductase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736871 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:20154325|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:29641532|PMID:31371350|PMID:31627758|PMID:33332384|PMID:36652909|PMID:9536098 8768992 Dhfr dihydrofolate reductase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736871 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:16199547|PMID:17576681|PMID:20154325|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26904404|PMID:27476653|PMID:28492532|PMID:29641532|PMID:31371350|PMID:31627758|PMID:33332384|PMID:36652909|PMID:37402566|PMID:9536098 8768992 Dhfr dihydrofolate reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 8768992 Dhfr dihydrofolate reductase gene DOID:9007456 Female Infertility ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17519396 8768992 Dhfr dihydrofolate reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 8768992 Dhfr dihydrofolate reductase gene DOID:9008939 Breast Neoplasms ISO RGD:736871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21501481|PMID:28188287 8768992 Dhfr dihydrofolate reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736871 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144|PMID:28492532 8768992 Dhfr dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:736871 D RGD:9068941 20200609 RGD PMID:9226157|REF_RGD_ID:11039543 8768992 Dhfr dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736871 D RGD:9068941 20200609 RGD PMID:12972803|REF_RGD_ID:11039545 8768992 Dhfr dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736871 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter: PMID:19861437|REF_RGD_ID:11039542 8768992 Dhfr dihydrofolate reductase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:736871 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-317A>G, 829C>T (human) PMID:22969948|REF_RGD_ID:11039544 8769002 Ppp1r3d protein phosphatase 1 regulatory subunit 3D gene DOID:630 genetic disease ISO RGD:1315049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769012 Crispld2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1605611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8769012 Crispld2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:3602 toxic encephalopathy ISO RGD:1605611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8769012 Crispld2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:409 liver disease ISO RGD:1605611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8769012 Crispld2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1605611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8769012 Crispld2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:630 genetic disease ISO RGD:1605611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769012 Crispld2 cysteine rich secretory protein LCCL domain containing 2 gene DOID:850 lung disease ISO RGD:1605611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21069352 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25326637|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28492532|PMID:28655553|PMID:30739908|PMID:31624717 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25326637|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:31624717 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:31624717 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733386 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31624717|PMID:31915033|PMID:32339686|PMID:33436942|PMID:33824467|PMID:36237225 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:733386 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE PMID:25326637|PMID:28492532 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:0070235 Loeys-Dietz syndrome 1 ISO RGD:733386 D RGD:7240710 20240320 OMIM 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:0070235 Loeys-Dietz syndrome 1 ISO RGD:733386 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18070134|PMID:18455604|PMID:18781618|PMID:18852674|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31915033|PMID:32339686|PMID:32778766|PMID:33436942|PMID:33824467|PMID:34270679|PMID:36237225 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:733386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:1059 intellectual disability ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:11054 urinary bladder cancer ISO RGD:733386 D RGD:9068941 20200609 RGD PMID:9363992|REF_RGD_ID:2302036 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:127 leiomyoma ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:17505012|REF_RGD_ID:2302021 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:12712 nephronophthisis ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733386 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:16928994|PMID:18781618|PMID:20332227|PMID:21358634|PMID:24033266|PMID:24055113|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25907466|PMID:25985138|PMID:26017485|PMID:27011056|PMID:27153395|PMID:28492532|PMID:28550590|PMID:28655553 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27558455|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28492532|PMID:28655553|PMID:29543232|PMID:30087447|PMID:30675029|PMID:30739908|PMID:31624717|PMID:31837199|PMID:5173258|PMID:8499949|PMID:9536098 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:30087447|PMID:30675029|PMID:31624717|PMID:31837199|PMID:31915033|PMID:5173258|PMID:8499949|PMID:9536098 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29907982|PMID:30087447|PMID:30675029|PMID:31624717|PMID:31837199|PMID:31915033|PMID:5173258|PMID:8499949|PMID:9536098 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30675029|PMID:30701076|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:33256177|PMID:5173258|PMID:8499949|PMID:9536098 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:5173258|PMID:8499949|PMID:9536098 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:5173258|PMID:8499949|PMID:9536098 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:5173258|PMID:8499949|PMID:9536098 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733386 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35830949|PMID:36237225|PMID:36584339|PMID:5173258|PMID:8499949|PMID:9536098 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:14323 Marfan syndrome ISO RGD:733386 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndrome PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28152038|PMID:28209770|PMID:28492532|PMID:31624717 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:30675029 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:1580 diffuse scleroderma ISO RGD:733386 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:2256 osteochondrodysplasia ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:17366323|REF_RGD_ID:2302024 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:2340 craniosynostosis ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:31837199 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:2661 myoepithelioma ISO RGD:733386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:3021 acute kidney failure ISO RGD:733386 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34677723 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:733386 D RGD:9068941 20221027 RGD human cell line in a mouse model PMID:17297450|REF_RGD_ID:155630637 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:3883 Lynch syndrome ISO RGD:733386 D RGD:9068941 20200609 RGD PMID:17613544|REF_RGD_ID:2306282 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:4676 uremia ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:5082 liver cirrhosis ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28560358 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:520 aortic disease ISO RGD:733386 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:16799921|PMID:16928994|PMID:19542084|PMID:23884466|PMID:25741868|PMID:26848186|PMID:26877057|PMID:27879313|PMID:28492532|PMID:30739908|PMID:31915033|PMID:36237225 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:557 kidney disease ISO RGD:3852 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18198643|REF_RGD_ID:2302020 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:5585 Ferguson-Smith tumor ISO RGD:733386 D RGD:7240710 20240320 OMIM 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:5585 Ferguson-Smith tumor ISO RGD:733386 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:29706644|PMID:29907982|PMID:31915033|PMID:33256177|PMID:33824467|PMID:5173258|PMID:8499949 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:5844 myocardial infarction ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:10198196|REF_RGD_ID:1601617 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:630 genetic disease ISO RGD:733386 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12499371|PMID:16928994|PMID:18781618|PMID:22113417|PMID:23672593|PMID:25437144|PMID:25741868|PMID:28492532 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:18202349|REF_RGD_ID:2302019 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:65 connective tissue disease ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736083 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733386 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:12808151|REF_RGD_ID:737735 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25741868|PMID:27879313|PMID:28492532 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3852 D RGD:9068941 20200609 RGD PMID:15723089|REF_RGD_ID:2302027 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3852 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16009107|REF_RGD_ID:1601595 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733386 D RGD:9068941 20200609 RGD PMID:15723089|REF_RGD_ID:2302027 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736083 D RGD:9068941 20200609 RGD PMID:15723089|REF_RGD_ID:2302027 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733386 D RGD:9068941 20200924 RGD mRNA:increased expression:lung PMID:25593290|REF_RGD_ID:38500244 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:3852 D RGD:9068941 20200609 RGD associated with Experimental Pancreatitis, Chronic PMID:26645248|REF_RGD_ID:14995470 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:733386 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28152038|PMID:28209770|PMID:28492532|PMID:31624717 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9004464 Skin Neoplasms ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358634 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733386 D RGD:9068941 20200609 RGD PMID:12808151|REF_RGD_ID:737735 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:733386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:16799921|PMID:19542084|PMID:26848186|PMID:26877057|PMID:28492532|PMID:30739908 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9006045 Dissecting Aneurysm ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22772368 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3852 D RGD:9068941 20230527 RGD mRNA:increased expression:carotic artery (rat) PMID:9622270|REF_RGD_ID:329845558 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:733386 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28560358 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18703712 8769037 Tgfbr1 transforming growth factor beta receptor 1 gene DOID:9256 colorectal cancer ISO RGD:733386 D RGD:9068941 20221027 RGD sporadic colorectal cancer;DNA:deletion:exon: (rs11466445) (human) PMID:24880985|REF_RGD_ID:155630638 8769060 Man2a2 mannosidase alpha class 2A member 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1321024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8769060 Man2a2 mannosidase alpha class 2A member 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1321024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8769060 Man2a2 mannosidase alpha class 2A member 2 gene DOID:2717 Bloom syndrome ISO RGD:1321024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8769060 Man2a2 mannosidase alpha class 2A member 2 gene DOID:630 genetic disease ISO RGD:1321024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769096 Cxxc1 CXXC finger protein 1 gene DOID:1059 intellectual disability ISO RGD:1321844 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8769096 Cxxc1 CXXC finger protein 1 gene DOID:630 genetic disease ISO RGD:1321844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769122 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:2961 D RGD:9068941 20200609 RGD PMID:14551242|REF_RGD_ID:1298970 8769122 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:2961 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta, mesenteric artery PMID:16814121|REF_RGD_ID:10412046 8769122 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:733456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17700361 8769122 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:10763 hypertension ISO RGD:733456 D RGD:9068941 20200609 RGD PMID:16293791|REF_RGD_ID:1581718 8769122 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:630 genetic disease ISO RGD:733456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769122 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9004657 Weight Gain ISO RGD:733456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27288421 8769122 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2961 D RGD:9068941 20200609 RGD protein:decreased expression:aorta, smooth muscle PMID:24589593|REF_RGD_ID:10412030 8769122 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9007102 Myocardial Ischemia no_association ISO RGD:733456 D RGD:9068941 20200609 RGD PMID:16155733|REF_RGD_ID:1581719 8769122 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:2961 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta, mesenteric artery PMID:21425425|REF_RGD_ID:10412047 8769122 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9008282 Diastolic Hypertension, Resistance to ISO RGD:733456 D RGD:7240710 20180130 OMIM 8769122 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9008282 Diastolic Hypertension, Resistance to ISO RGD:733456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, diastolic, resistance to PMID:15057310|PMID:16155733 8769122 Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2961 D RGD:9068941 20200609 RGD protein:decreased expression:aorta PMID:18790848|REF_RGD_ID:10412045 8769138 Sytl2 synaptotagmin like 2 gene DOID:0080600 COVID-19 ISO RGD:1316959 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8769138 Sytl2 synaptotagmin like 2 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1316959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 8769138 Sytl2 synaptotagmin like 2 gene DOID:1059 intellectual disability ISO RGD:1316959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8769138 Sytl2 synaptotagmin like 2 gene DOID:1558 angioedema ISO RGD:1316959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema PMID:28327206 8769138 Sytl2 synaptotagmin like 2 gene DOID:630 genetic disease ISO RGD:1316959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769203 Tatdn3 TatD DNase domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1604534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8769203 Tatdn3 TatD DNase domain containing 3 gene DOID:630 genetic disease ISO RGD:1604534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769203 Tatdn3 TatD DNase domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8769222 Pla1a phospholipase A1 member A gene DOID:630 genetic disease ISO RGD:1343434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769238 Bicdl1 BICD family like cargo adaptor 1 gene DOID:630 genetic disease ISO RGD:1603186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769250 Sema4f ssemaphorin 4F gene DOID:1790 malignant mesothelioma ISO RGD:735857 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8769250 Sema4f ssemaphorin 4F gene DOID:630 genetic disease ISO RGD:735857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769283 Btg1 BTG anti-proliferation factor 1 gene DOID:11801 protein-energy malnutrition ISO RGD:2224 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11952159|REF_RGD_ID:631316 8769283 Btg1 BTG anti-proliferation factor 1 gene DOID:5419 schizophrenia ISO RGD:736072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 8769283 Btg1 BTG anti-proliferation factor 1 gene DOID:630 genetic disease ISO RGD:736072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769283 Btg1 BTG anti-proliferation factor 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8769283 Btg1 BTG anti-proliferation factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736072 D RGD:9068941 20200609 RGD PMID:15449376|REF_RGD_ID:1549463 8769283 Btg1 BTG anti-proliferation factor 1 gene DOID:9538 multiple myeloma ISO RGD:736072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16918137 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:10603 glucose intolerance ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27381457 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:3021 acute kidney failure ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21745194 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363678 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:6000 congestive heart failure ISO RGD:1351216 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle myocardium (human) PMID:18323524|REF_RGD_ID:9835356 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:630 genetic disease ISO RGD:1351216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1351216 D RGD:9068941 20200609 RGD DNA:snps:introns: (rs2072115), (rs2074533) (human) PMID:15274052|REF_RGD_ID:9835361 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9002056 Arterial Injury ISO RGD:621869 D RGD:9068941 20200609 RGD mRNA:increased expression:femoral artery (rat) PMID:18689492|REF_RGD_ID:9835375 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9002098 Tick-Borne Diseases ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24218580 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9003936 Cardiomegaly ISO RGD:621869 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle myocardium (rat) PMID:18323524|REF_RGD_ID:9835356 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9003936 Cardiomegaly susceptibility ISO RGD:732974 D RGD:9068941 20200609 RGD PMID:25411381|REF_RGD_ID:9850089 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:621869 D RGD:9068941 20200609 RGD PMID:18178058|REF_RGD_ID:9835362 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1351216 D RGD:9068941 20200609 RGD protein:altered expression:thyroid gland (human) PMID:25372777|REF_RGD_ID:9835389 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732974 D RGD:9068941 20200609 RGD protein:increased expression:heart (mouse) PMID:24721545|REF_RGD_ID:9835365 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9007347 Rickettsia Infections ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24218580 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9007730 Burns treatment ISO RGD:621869 D RGD:9068941 20200609 RGD PMID:24973766|REF_RGD_ID:9850087 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9120 amyloidosis ISO RGD:732974 D RGD:9068941 20200609 RGD protein:increased expression:heart (mouse) PMID:24721545|REF_RGD_ID:9835365 8769289 Rapgef3 Rap guanine nucleotide exchange factor 3 gene DOID:9970 obesity ISO RGD:1351216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 8769321 Atp6v0c ATPase H+ transporting V0 subunit c gene DOID:0070472 early-onset epilepsy 3 ISO RGD:731892 D RGD:7240710 20230920 OMIM 8769321 Atp6v0c ATPase H+ transporting V0 subunit c gene DOID:0070472 early-onset epilepsy 3 ISO RGD:731892 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Epilepsy, early-onset, 3, with or without developmental delay PMID:25741868|PMID:35600075|PMID:37161035 8769321 Atp6v0c ATPase H+ transporting V0 subunit c gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:731892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8769321 Atp6v0c ATPase H+ transporting V0 subunit c gene DOID:1826 epilepsy ISO RGD:731892 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:33190975|PMID:36074901 8769321 Atp6v0c ATPase H+ transporting V0 subunit c gene DOID:1827 idiopathic generalized epilepsy ISO RGD:731892 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8769321 Atp6v0c ATPase H+ transporting V0 subunit c gene DOID:3963 thyroid gland carcinoma disease_progression ISO RGD:731892 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:30884810|REF_RGD_ID:14696825 8769321 Atp6v0c ATPase H+ transporting V0 subunit c gene DOID:630 genetic disease ISO RGD:731892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769330 Rpl28 ribosomal protein L28 gene DOID:3525 middle cerebral artery infarction ISO RGD:621193 D RGD:9068941 20200609 RGD PMID:16805800|REF_RGD_ID:6480229 8769330 Rpl28 ribosomal protein L28 gene DOID:630 genetic disease ISO RGD:733961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769330 Rpl28 ribosomal protein L28 gene DOID:9004657 Weight Gain ISO RGD:733961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8769339 Taar5 trace amine associated receptor 5 gene DOID:630 genetic disease ISO RGD:1603706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769366 Phc1 polyhomeotic homolog 1 gene DOID:0070287 primary autosomal recessive microcephaly 11 ISO RGD:1319414 D RGD:7240710 20180130 OMIM 8769366 Phc1 polyhomeotic homolog 1 gene DOID:0070287 primary autosomal recessive microcephaly 11 ISO RGD:1319414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive PMID:23418308|PMID:25558065|PMID:25741868 8769366 Phc1 polyhomeotic homolog 1 gene DOID:1059 intellectual disability ISO RGD:1319414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23418308|PMID:25558065 8769366 Phc1 polyhomeotic homolog 1 gene DOID:630 genetic disease ISO RGD:1319414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769366 Phc1 polyhomeotic homolog 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1319415 D RGD:9068941 20220825 MouseDO OMIM:187500 8769366 Phc1 polyhomeotic homolog 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1319414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 8769366 Phc1 polyhomeotic homolog 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8769395 Rps12 ribosomal protein S12 gene DOID:630 genetic disease ISO RGD:735309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769395 Rps12 ribosomal protein S12 gene DOID:9006599 Hypertriglyceridemia ISO RGD:62024 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X;mRNA:increased expression:liver PMID:25294893|REF_RGD_ID:11039460 8769406 Hmgxb3 HMG-box containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2302190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8769406 Hmgxb3 HMG-box containing 3 gene DOID:630 genetic disease ISO RGD:2302190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769406 Hmgxb3 HMG-box containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8769406 Hmgxb3 HMG-box containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2302190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8769430 Uprt uracil phosphoribosyltransferase homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8769430 Uprt uracil phosphoribosyltransferase homolog gene DOID:12849 autistic disorder ISO RGD:1605870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8769430 Uprt uracil phosphoribosyltransferase homolog gene DOID:630 genetic disease ISO RGD:1605870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769430 Uprt uracil phosphoribosyltransferase homolog gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1564806 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:1476792|REF_RGD_ID:5132591 8769456 Acsl5 acyl-CoA synthetase long chain family member 5 gene DOID:630 genetic disease ISO RGD:1604361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769456 Acsl5 acyl-CoA synthetase long chain family member 5 gene DOID:9002457 Experimental Arthritis ISO RGD:1604361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988084 8769456 Acsl5 acyl-CoA synthetase long chain family member 5 gene DOID:9005374 Diarrhea 13 ISO RGD:1604361 D RGD:7240710 20230505 OMIM 8769456 Acsl5 acyl-CoA synthetase long chain family member 5 gene DOID:9005374 Diarrhea 13 ISO RGD:1604361 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Diarrhea 13 PMID:33191500 8769489 Col10a1 collagen type X alpha 1 chain gene DOID:0060163 body dysmorphic disorder ISO RGD:735281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8769489 Col10a1 collagen type X alpha 1 chain gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:735281 D RGD:7240710 20180130 OMIM 8769489 Col10a1 collagen type X alpha 1 chain gene DOID:0080021 Schmid metaphyseal chondrodysplasia ISO RGD:735281 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: COL10A1-related condition | ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE PMID:10721676|PMID:10991694|PMID:11805116|PMID:12554676|PMID:12584438|PMID:15695517|PMID:15880705|PMID:16088909|PMID:17403716|PMID:20872587|PMID:21447328|PMID:25741868|PMID:28492532|PMID:29234170|PMID:30202406|PMID:30408610|PMID:33764685|PMID:34423584|PMID:36400164|PMID:7607655|PMID:7749409|PMID:7936797|PMID:8004099|PMID:8012364|PMID:8220429|PMID:8304336|PMID:8554571|PMID:8782043|PMID:8986632|PMID:9067753|PMID:9525992|PMID:9708440|PMID:9837818|PMID:9852679|PMID:9920912 8769489 Col10a1 collagen type X alpha 1 chain gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:735281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8769489 Col10a1 collagen type X alpha 1 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:735281 D RGD:9068941 20200609 RGD Schmid metaphyseal chondrodysplasia, OMIM:156500;DNA:deletion mutations, missense mutation: :1856delC, 1992delCT, p.C591R PMID:8004099|REF_RGD_ID:1600880 8769489 Col10a1 collagen type X alpha 1 chain gene DOID:3910 lung adenocarcinoma ISO RGD:735281 D RGD:9068941 20210924 RGD mRNA:increased expression:lung PMID:33324550|REF_RGD_ID:150429752 8769489 Col10a1 collagen type X alpha 1 chain gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735281 D RGD:9068941 20210924 RGD PMID:33324550|REF_RGD_ID:150429752 8769489 Col10a1 collagen type X alpha 1 chain gene DOID:630 genetic disease ISO RGD:735281 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29675035 8769489 Col10a1 collagen type X alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:2371 D RGD:9068941 20200609 RGD PMID:20948465|REF_RGD_ID:8661231 8769489 Col10a1 collagen type X alpha 1 chain gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:735281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868|PMID:28492532 8769489 Col10a1 collagen type X alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip ISO RGD:2371 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cartilage PMID:22670655|REF_RGD_ID:10043109 8769489 Col10a1 collagen type X alpha 1 chain gene DOID:9009121 lung metastasis ameliorates ISO RGD:735281 D RGD:9068941 20210924 RGD associated with H1299 cell PMID:33324550|REF_RGD_ID:150429752 8769505 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:1826 epilepsy ISO RGD:1345342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8769505 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:305 carcinoma ISO RGD:1345342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8769505 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8769505 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:5419 schizophrenia ISO RGD:1345342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8769505 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:630 genetic disease ISO RGD:1345342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769505 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8769505 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8769505 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9007429 Soft Tissue Neoplasms severity ISO RGD:1345342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple (human) PMID:20165692|REF_RGD_ID:10766477 8769505 Snrpd3 small nuclear ribonucleoprotein D3 polypeptide gene DOID:9074 systemic lupus erythematosus ISO RGD:1345342 D RGD:9068941 20200609 RGD PMID:17640359|REF_RGD_ID:10755704 8769525 LOC102006357 cytochrome c oxidase subunit 6A2, mitochondrial gene DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 ISO RGD:736247 D RGD:7240710 20201111 OMIM 8769525 LOC102006357 cytochrome c oxidase subunit 6A2, mitochondrial gene DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 ISO RGD:736247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 PMID:25741868|PMID:31155743 8769525 LOC102006357 cytochrome c oxidase subunit 6A2, mitochondrial gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:736247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8769525 LOC102006357 cytochrome c oxidase subunit 6A2, mitochondrial gene DOID:630 genetic disease ISO RGD:736247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0050572 cone-rod dystrophy ISO RGD:1343997 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:26092869|PMID:28492532|PMID:29146704|PMID:29186038|PMID:34188062 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0050572 cone-rod dystrophy ISO RGD:1343997 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25741868|PMID:25999675|PMID:26075876|PMID:26092869|PMID:27353947|PMID:28125082|PMID:28492532|PMID:28559085|PMID:29146704|PMID:29186038|PMID:31456290|PMID:32483926|PMID:34188062 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0050777 Joubert syndrome ISO RGD:1343997 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:15786477|PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:26092869|PMID:26748598|PMID:27401686|PMID:28125082|PMID:28492532|PMID:28559085|PMID:29146704|PMID:29186038|PMID:29230161|PMID:29987673|PMID:30202406|PMID:31456290|PMID:33749171|PMID:34188062 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1343997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1343997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343997 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343997 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0081097 Rafiq syndrome ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:7240710 20180130 OMIM 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:10577920|PMID:15786477|PMID:17576681|PMID:18414213|PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25133751|PMID:25741868|PMID:25818971|PMID:25999675|PMID:26092869|PMID:27081510|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31589614|PMID:33270637|PMID:9536098 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15786477|PMID:18414213|PMID:19668216|PMID:25741868|PMID:26092869|PMID:27081510|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29186038|PMID:29915382 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:10577920|PMID:15786477|PMID:17576681|PMID:18414213|PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:24257694|PMID:25741868|PMID:25818971|PMID:25920555|PMID:25999675|PMID:26092869|PMID:26748598|PMID:27081510|PMID:27401686|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29146704|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31456290|PMID:31506345|PMID:31589614|PMID:32304219|PMID:33270637|PMID:33749171|PMID:34188062|PMID:9536098 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:15786477|PMID:18414213|PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26075876|PMID:26092869|PMID:26748598|PMID:27081510|PMID:27353947|PMID:27401686|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29186038|PMID:29230161|PMID:29915382|PMID:30202406|PMID:31506345|PMID:32483926|PMID:33749171|PMID:34188062 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343997 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:10577920|PMID:15786477|PMID:16025100|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19597493|PMID:19668215|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:23847139|PMID:24257694|PMID:25132448|PMID:25516202|PMID:25741868|PMID:25741895|PMID:25818971|PMID:25920555|PMID:25963545|PMID:25999675|PMID:26075876|PMID:26092869|PMID:26748598|PMID:26820064|PMID:27081510|PMID:27353947|PMID:27401686|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28771248|PMID:29052317|PMID:29146704|PMID:29186038|PMID:29230161|PMID:29555955|PMID:29915382|PMID:29987673|PMID:30202406|PMID:31456290|PMID:31506345|PMID:31589614|PMID:32304219|PMID:32483926|PMID:33270637|PMID:33749171|PMID:34188062|PMID:36460718|PMID:9536098 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:1059 intellectual disability ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:11836 clubfoot ISO RGD:1343997 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:15786477|PMID:19668216|PMID:25741868|PMID:26748598|PMID:27401686|PMID:28492532|PMID:29186038|PMID:33749171|PMID:34188062 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:14791 Leber congenital amaurosis ISO RGD:1343997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:23034536|PMID:23386033|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29146704|PMID:29186038|PMID:31456290|PMID:34188062 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:1529 penile disease ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:3652 Leigh disease ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:630 genetic disease ISO RGD:1343997 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10577920|PMID:15786477|PMID:19668216|PMID:25741868|PMID:26075876|PMID:26748598|PMID:27081510|PMID:27353947|PMID:27401686|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29186038|PMID:29915382|PMID:32483926|PMID:33749171|PMID:34188062 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:8501 fundus dystrophy ISO RGD:1343997 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15786477|PMID:19668216|PMID:23034536|PMID:23386033|PMID:25741868|PMID:25741895|PMID:25818971|PMID:26092869|PMID:28125082|PMID:28492532|PMID:29186038|PMID:29230161|PMID:30202406|PMID:34188062 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215|PMID:19668216 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9005249 Immunodeficiency 103 ISO RGD:1343997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1343997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9006992 MORM Syndrome ISO RGD:1343997 D RGD:7240710 20180130 OMIM 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9006992 MORM Syndrome ISO RGD:1343997 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: INPP5E-related condition | ClinVar Annotator: match by term: MORM syndrome PMID:19668215|PMID:19668216|PMID:23034536|PMID:23386033|PMID:23847139|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28454995|PMID:28492532|PMID:28559085|PMID:28771248|PMID:29186038|PMID:29555955|PMID:29915382|PMID:29987673|PMID:34188062 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9970 obesity ISO RGD:1332343 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle, white adipose tissue PMID:23349329|REF_RGD_ID:12911211 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9970 obesity ISO RGD:1343997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19668215 8769532 Inpp5e inositol polyphosphate-5-phosphatase E gene DOID:9970 obesity treatment ISO RGD:620478 D RGD:9068941 20200609 RGD PMID:23349329|REF_RGD_ID:12911211 8769547 Ints4 integrator complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1603936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8769547 Ints4 integrator complex subunit 4 gene DOID:630 genetic disease ISO RGD:1603936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769547 Ints4 integrator complex subunit 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8769583 Rtf2 replication termination factor 2 gene DOID:630 genetic disease ISO RGD:1322335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769596 Mip major intrinsic protein of lens fiber gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous PMID:24120416|PMID:25741868|PMID:26694549|PMID:28492532|PMID:29770612 8769596 Mip major intrinsic protein of lens fiber gene DOID:0110251 cataract 15 multiple types ISO RGD:735323 D RGD:7240710 20180130 OMIM 8769596 Mip major intrinsic protein of lens fiber gene DOID:0110251 cataract 15 multiple types ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 15 multiple types | ClinVar Annotator: match by term: MIP-related condition PMID:10802646|PMID:10937580|PMID:16199547|PMID:16564824|PMID:17576681|PMID:18501347|PMID:20361015|PMID:21921980|PMID:24120416|PMID:24319327|PMID:24405844|PMID:25741868|PMID:25803033|PMID:26694549|PMID:27456987|PMID:28492532|PMID:29695758|PMID:29770612|PMID:3456204|PMID:9536098 8769596 Mip major intrinsic protein of lens fiber gene DOID:10629 microphthalmia ISO RGD:735323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmos PMID:25741868 8769596 Mip major intrinsic protein of lens fiber gene DOID:630 genetic disease ISO RGD:735323 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8769596 Mip major intrinsic protein of lens fiber gene DOID:83 cataract ISO RGD:735323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:24120416|PMID:25741868|PMID:26694549|PMID:28492532|PMID:29770612 8769596 Mip major intrinsic protein of lens fiber gene DOID:9650 pathologic nystagmus ISO RGD:735323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 8769604 Psme2 proteasome activator subunit 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8769604 Psme2 proteasome activator subunit 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8769604 Psme2 proteasome activator subunit 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8769604 Psme2 proteasome activator subunit 2 gene DOID:630 genetic disease ISO RGD:733724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769604 Psme2 proteasome activator subunit 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8769604 Psme2 proteasome activator subunit 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8769604 Psme2 proteasome activator subunit 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733724 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8769626 Tmem52 transmembrane protein 52 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8769626 Tmem52 transmembrane protein 52 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8769626 Tmem52 transmembrane protein 52 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8769626 Tmem52 transmembrane protein 52 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8769626 Tmem52 transmembrane protein 52 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8769626 Tmem52 transmembrane protein 52 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8769626 Tmem52 transmembrane protein 52 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8769626 Tmem52 transmembrane protein 52 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8769626 Tmem52 transmembrane protein 52 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8769626 Tmem52 transmembrane protein 52 gene DOID:630 genetic disease ISO RGD:1603246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769626 Tmem52 transmembrane protein 52 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8769626 Tmem52 transmembrane protein 52 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8769626 Tmem52 transmembrane protein 52 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8769647 Pask PAS domain containing serine/threonine kinase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1314594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8769647 Pask PAS domain containing serine/threonine kinase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1314594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8769647 Pask PAS domain containing serine/threonine kinase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1314594 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8769647 Pask PAS domain containing serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1314594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8769647 Pask PAS domain containing serine/threonine kinase gene DOID:12849 autistic disorder ISO RGD:1314594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 8769647 Pask PAS domain containing serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1314594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8769647 Pask PAS domain containing serine/threonine kinase gene DOID:784 chronic kidney disease ISO RGD:1314594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 8769647 Pask PAS domain containing serine/threonine kinase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1314594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8769677 Ift46 intraflagellar transport 46 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8769677 Ift46 intraflagellar transport 46 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8769677 Ift46 intraflagellar transport 46 gene DOID:0080690 RASopathy ISO RGD:1604332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8769677 Ift46 intraflagellar transport 46 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1604332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8769677 Ift46 intraflagellar transport 46 gene DOID:0110651 long QT syndrome 10 ISO RGD:1604332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8769677 Ift46 intraflagellar transport 46 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8769677 Ift46 intraflagellar transport 46 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8769677 Ift46 intraflagellar transport 46 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8769677 Ift46 intraflagellar transport 46 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8769677 Ift46 intraflagellar transport 46 gene DOID:630 genetic disease ISO RGD:1604332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769677 Ift46 intraflagellar transport 46 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8769677 Ift46 intraflagellar transport 46 gene DOID:9007661 Dwarfism ISO RGD:1604332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8769693 Micall1 MICAL like 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8769693 Micall1 MICAL like 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1602200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8769693 Micall1 MICAL like 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1602200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8769693 Micall1 MICAL like 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1602200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8769693 Micall1 MICAL like 1 gene DOID:630 genetic disease ISO RGD:1602200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769715 Nup188 nucleoporin 188 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8769715 Nup188 nucleoporin 188 gene DOID:0080565 congenital disorder of glycosylation Im ISO RGD:1348104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M 8769715 Nup188 nucleoporin 188 gene DOID:0081272 Sandestig-Stefanova syndrome ISO RGD:1348104 D RGD:7240710 20200318 OMIM 8769715 Nup188 nucleoporin 188 gene DOID:0081272 Sandestig-Stefanova syndrome ISO RGD:1348104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NUP188-related condition | ClinVar Annotator: match by term: Sandestig-stefanova syndrome PMID:24033266|PMID:25741868|PMID:32021605|PMID:32275884 8769715 Nup188 nucleoporin 188 gene DOID:10907 microcephaly ISO RGD:1348104 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:32275884 8769715 Nup188 nucleoporin 188 gene DOID:11162 respiratory failure ISO RGD:1348104 D RGD:9068941 20230330 RGD DNA:frameshift mutations, nonsense mutations:CDS:multiple (human) PMID:32275884|REF_RGD_ID:243048418 8769715 Nup188 nucleoporin 188 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1348104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 8769715 Nup188 nucleoporin 188 gene DOID:630 genetic disease ISO RGD:1348104 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050741 alcohol dependence treatment ISO RGD:1308198 D RGD:9068941 20231102 RGD PMID:20626732|REF_RGD_ID:401851075 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1317837 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:0060001 withdrawal disorder ISO RGD:1308198 D RGD:9068941 20231109 RGD associated with morphine dependence;protein:increased expression:Brainstem (rat) PMID:20438612|REF_RGD_ID:401900159 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:0080600 COVID-19 ISO RGD:1317837 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:10937 impulse control disorder ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539927 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:11206 opioid abuse ISO RGD:1308198 D RGD:9068941 20231130 RGD protein:increased expression:Prefrontal Cortex, nucleus accumbens (rat) PMID:30632799|REF_RGD_ID:401901180 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:1561 cognitive disorder ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24067299 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:1574 alcohol use disorder ISO RGD:1317838 D RGD:9068941 20231130 RGD protein:increased expression:brain (mouse) PMID:9835277|REF_RGD_ID:401901184 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:1574 alcohol use disorder ISO RGD:1317838 D RGD:9068941 20231209 RGD protein:increased expression:dorsal striatum (mouse) PMID:27380261|REF_RGD_ID:401901287 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:1574 alcohol use disorder treatment ISO RGD:1308198 D RGD:9068941 20231109 RGD PMID:22792289|REF_RGD_ID:401851082 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:1596 depressive disorder ISO RGD:1317837 D RGD:9068941 20231207 RGD protein:decreased expression: hippocampus (human) PMID:27494187|REF_RGD_ID:401851061 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:1826 epilepsy ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391389 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:2560 morphine dependence ISO RGD:1308198 D RGD:9068941 20231209 RGD associated with pregnancy complications; protein:increased expression:brain (rat) PMID:33592274|REF_RGD_ID:401901281 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:2560 morphine dependence ameliorates ISO RGD:1308198 D RGD:9068941 20231207 RGD protein:increased expression:brain (rat) PMID:23185589|REF_RGD_ID:401851068 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:480 movement disease ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10600402 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:1317837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:670 amphetamine abuse ISO RGD:1308198 D RGD:9068941 20231130 RGD protein:increased expression:brain (rat) PMID:31373119|REF_RGD_ID:401900735 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:670 amphetamine abuse ISO RGD:1308198 D RGD:9068941 20231216 RGD associated with stress related disorder;protein:increased expression:brain (rat) PMID:27672362|REF_RGD_ID:401901183 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:670 amphetamine abuse ISO RGD:1317838 D RGD:9068941 20231118 RGD protein:increased expression:ventral tegmental area, nucleus accumbens (mouse) PMID:28782589|REF_RGD_ID:401900303 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:809 cocaine abuse ISO RGD:1308198 D RGD:9068941 20231111 RGD associated with alcohol dependence;protein:increased expression: caudate-putamen (rat) PMID:17572394|REF_RGD_ID:401900302 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26411935 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12657709|PMID:17898221|PMID:18539927|PMID:19331462 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9007188 Liver Neoplasms ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26411935 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9008331 Tendon Injuries treatment ISO RGD:1308198 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1317837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17219962 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9973 substance dependence ISO RGD:1317837 D RGD:9068941 20231207 RGD protein:decreased expression: hippocampus (human) PMID:27494187|REF_RGD_ID:401851061 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9975 cocaine dependence ISO RGD:1308198 D RGD:9068941 20231109 RGD protein:increased expression:Brain (rat) PMID:23665060|REF_RGD_ID:401851078 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9975 cocaine dependence ISO RGD:1308198 D RGD:9068941 20231207 RGD mRNA,protein:increased expression:Nucleus Accumbens, Caudate Putamen (rat) PMID:20633205|REF_RGD_ID:401900126 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9975 cocaine dependence ISO RGD:1308198 D RGD:9068941 20231207 RGD protein:increased expression:Nucleus Accumbens, Caudate Putamen (rat) PMID:25522720|REF_RGD_ID:401851063 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9975 cocaine dependence ISO RGD:1317838 D RGD:9068941 20231209 RGD protein:increased expression:dorsal striatum, nucelus accumbens (mouse) PMID:27380261|REF_RGD_ID:401901287 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9975 cocaine dependence ameliorates ISO RGD:1308198 D RGD:9068941 20231109 RGD PMID:22403532|REF_RGD_ID:401851084 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9975 cocaine dependence treatment ISO RGD:1308198 D RGD:9068941 20231130 RGD PMID:27664298|REF_RGD_ID:401900166 8769766 Fosb FosB proto-oncogene, AP-1 transcription factor subunit gene DOID:9976 heroin dependence ameliorates ISO RGD:1308198 D RGD:9068941 20231214 RGD PMID:21362452|PMID:23062870|REF_RGD_ID:401901181|REF_RGD_ID:401901182 8769781 Catsper4 cation channel sperm associated 4 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1350186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8769781 Catsper4 cation channel sperm associated 4 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1350186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8769781 Catsper4 cation channel sperm associated 4 gene DOID:630 genetic disease ISO RGD:1350186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769812 Ptger1 prostaglandin E receptor 1 gene DOID:10808 gastric ulcer treatment ISO RGD:3434 D RGD:9068941 20200609 RGD PMID:10807413|REF_RGD_ID:10043357 8769812 Ptger1 prostaglandin E receptor 1 gene DOID:10808 gastric ulcer treatment ISO RGD:735522 D RGD:9068941 20200609 RGD PMID:10807413|REF_RGD_ID:10043357 8769812 Ptger1 prostaglandin E receptor 1 gene DOID:11111 hydronephrosis ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30641090 8769812 Ptger1 prostaglandin E receptor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21739481 8769812 Ptger1 prostaglandin E receptor 1 gene DOID:1876 sexual dysfunction ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18726914 8769812 Ptger1 prostaglandin E receptor 1 gene DOID:299 adenocarcinoma ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 8769812 Ptger1 prostaglandin E receptor 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 8769812 Ptger1 prostaglandin E receptor 1 gene DOID:630 genetic disease ISO RGD:733054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769812 Ptger1 prostaglandin E receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 8769812 Ptger1 prostaglandin E receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11375261 8769812 Ptger1 prostaglandin E receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11751431 8769838 Gpr182 G protein-coupled receptor 182 gene DOID:630 genetic disease ISO RGD:736455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769838 Gpr182 G protein-coupled receptor 182 gene DOID:6432 pulmonary hypertension ISO RGD:61903 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:12622928|REF_RGD_ID:1625768 8769838 Gpr182 G protein-coupled receptor 182 gene DOID:684 hepatocellular carcinoma ISO RGD:736455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8769850 Asb4 ankyrin repeat and SOCS box containing 4 gene DOID:10591 pre-eclampsia ISO RGD:1557659 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 8769850 Asb4 ankyrin repeat and SOCS box containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8769850 Asb4 ankyrin repeat and SOCS box containing 4 gene DOID:630 genetic disease ISO RGD:1348810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769859 Prdm5 PR/SET domain 5 gene DOID:0080729 brittle cornea syndrome 2 ISO RGD:1318295 D RGD:7240710 20180130 OMIM 8769859 Prdm5 PR/SET domain 5 gene DOID:0080729 brittle cornea syndrome 2 ISO RGD:1318295 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 2 PMID:17576681|PMID:21664999|PMID:22122778|PMID:25741868|PMID:26395458|PMID:28492532|PMID:31829210|PMID:33739556|PMID:34008892|PMID:8458232|PMID:9536098 8769859 Prdm5 PR/SET domain 5 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1318295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:26489929 8769859 Prdm5 PR/SET domain 5 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1318295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:21664999|PMID:25741868|PMID:26395458|PMID:28492532|PMID:33739556|PMID:34008892 8769859 Prdm5 PR/SET domain 5 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1318295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility PMID:25741868|PMID:28492532 8769859 Prdm5 PR/SET domain 5 gene DOID:630 genetic disease ISO RGD:1318295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8769859 Prdm5 PR/SET domain 5 gene DOID:65 connective tissue disease ISO RGD:1318295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8769859 Prdm5 PR/SET domain 5 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1318295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8769859 Prdm5 PR/SET domain 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8769880 Exoc3 exocyst complex component 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1344149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 8769880 Exoc3 exocyst complex component 3 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1344149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8769880 Exoc3 exocyst complex component 3 gene DOID:630 genetic disease ISO RGD:1344149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769915 Adap2 ArfGAP with dual PH domains 2 gene DOID:0080600 COVID-19 ISO RGD:734306 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8769915 Adap2 ArfGAP with dual PH domains 2 gene DOID:0111253 neurofibromatosis 1 ISO RGD:734306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8769915 Adap2 ArfGAP with dual PH domains 2 gene DOID:1969 cerebral palsy ISO RGD:734306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8769915 Adap2 ArfGAP with dual PH domains 2 gene DOID:630 genetic disease ISO RGD:734306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769915 Adap2 ArfGAP with dual PH domains 2 gene DOID:9008086 Developmental Disabilities ISO RGD:734306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 8769933 Casp8 caspase 8 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:620945 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 8769933 Casp8 caspase 8 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:730846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8769933 Casp8 caspase 8 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:730846 D RGD:7240710 20180328 OMIM 8769933 Casp8 caspase 8 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:730846 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B | ClinVar Annotator: match by term: Caspase-8 deficiency PMID:11343122|PMID:12353035|PMID:12577056|PMID:15601643|PMID:15998955|PMID:16199547|PMID:17293864|PMID:17576681|PMID:19380800|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25640679|PMID:25741868|PMID:25814141|PMID:26193622|PMID:26556299|PMID:28492532|PMID:29729943|PMID:30267714|PMID:30326257|PMID:32135276|PMID:34362880|PMID:9536098 8769933 Casp8 caspase 8 gene DOID:104 bacterial infectious disease ISO RGD:730847 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16443785|REF_RGD_ID:2311430 8769933 Casp8 caspase 8 gene DOID:10652 Alzheimer's disease ISO RGD:730846 D RGD:9068941 20200609 RGD PMID:12633148|PMID:16772874|REF_RGD_ID:13782268|REF_RGD_ID:13782269 8769933 Casp8 caspase 8 gene DOID:10652 Alzheimer's disease treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29642617|REF_RGD_ID:13782291 8769933 Casp8 caspase 8 gene DOID:10763 hypertension ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:27929425|REF_RGD_ID:13782308 8769933 Casp8 caspase 8 gene DOID:10952 nephritis treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28039298|REF_RGD_ID:13782307 8769933 Casp8 caspase 8 gene DOID:11166 papillomavirus infectious disease ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 8769933 Casp8 caspase 8 gene DOID:114 heart disease ISO RGD:620945 D RGD:9068941 20200609 RGD associated with Multiple Trauma PMID:28825094|REF_RGD_ID:13782301 8769933 Casp8 caspase 8 gene DOID:11446 sciatic neuropathy ISO RGD:620945 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:29659443|REF_RGD_ID:13782273 8769933 Casp8 caspase 8 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 8769933 Casp8 caspase 8 gene DOID:12858 Huntington's disease ISO RGD:730846 D RGD:9068941 20200609 RGD protein:altered localization:cerebellum: PMID:10197541|REF_RGD_ID:734695 8769933 Casp8 caspase 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 8769933 Casp8 caspase 8 gene DOID:1324 lung cancer ISO RGD:730846 D RGD:7240710 20240124 OMIM 8769933 Casp8 caspase 8 gene DOID:1324 lung cancer ISO RGD:730846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer, protection against PMID:17450141|PMID:18305469 8769933 Casp8 caspase 8 gene DOID:1612 breast cancer ISO RGD:730846 D RGD:7240710 20180711 OMIM 8769933 Casp8 caspase 8 gene DOID:1612 breast cancer ISO RGD:730846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, protection against PMID:15601643|PMID:15998955|PMID:17293864|PMID:24033266|PMID:28492532 8769933 Casp8 caspase 8 gene DOID:1793 pancreatic cancer ISO RGD:730846 D RGD:9068941 20200609 RGD DNA:SNP: :rs1045485 (human) PMID:19843670|REF_RGD_ID:2317230 8769933 Casp8 caspase 8 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:730846 D RGD:9068941 20200609 RGD DNA:deletion, insertion:promoter (human) PMID:18483392|REF_RGD_ID:2315744 8769933 Casp8 caspase 8 gene DOID:1824 status epilepticus ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased activity:hippocampus PMID:15036620|REF_RGD_ID:2311439 8769933 Casp8 caspase 8 gene DOID:1824 status epilepticus ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18571097 8769933 Casp8 caspase 8 gene DOID:1909 melanoma ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563783|PMID:21983787 8769933 Casp8 caspase 8 gene DOID:224 transient cerebral ischemia ISO RGD:620945 D RGD:9068941 20220527 RGD protein:increased expression:cerebral cortex: PMID:18096138|REF_RGD_ID:4142863 8769933 Casp8 caspase 8 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:30148677|REF_RGD_ID:13782286 8769933 Casp8 caspase 8 gene DOID:2773 contact dermatitis ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8769933 Casp8 caspase 8 gene DOID:299 adenocarcinoma ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 8769933 Casp8 caspase 8 gene DOID:3042 allergic contact dermatitis ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8769933 Casp8 caspase 8 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28496315|REF_RGD_ID:13782303 8769933 Casp8 caspase 8 gene DOID:3310 atopic dermatitis ISO RGD:730847 D RGD:9068941 20220825 MouseDO OMIM:603165 8769933 Casp8 caspase 8 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:730846 D RGD:9068941 20220811 RGD mRNA,protein:decreased expression:esophagus squamous epithelium (human) PMID:31885720|REF_RGD_ID:153300949 8769933 Casp8 caspase 8 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 8769933 Casp8 caspase 8 gene DOID:417 autoimmune disease ISO RGD:730846 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:17880769|REF_RGD_ID:2311245 8769933 Casp8 caspase 8 gene DOID:4195 hyperglycemia ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:19194987|REF_RGD_ID:2311428 8769933 Casp8 caspase 8 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:730846 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs1035142) (human) PMID:21472143|REF_RGD_ID:126925218 8769933 Casp8 caspase 8 gene DOID:5082 liver cirrhosis ISO RGD:730847 D RGD:9068941 20200609 RGD associated with cholestasis PMID:29105510|REF_RGD_ID:13782297 8769933 Casp8 caspase 8 gene DOID:5327 retinal detachment treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28633009|REF_RGD_ID:13782302 8769933 Casp8 caspase 8 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 8769933 Casp8 caspase 8 gene DOID:557 kidney disease ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29257007|REF_RGD_ID:13782293 8769933 Casp8 caspase 8 gene DOID:612 primary immunodeficiency disease ISO RGD:730846 D RGD:9068941 20200609 RGD PMID:12353035|REF_RGD_ID:734696 8769933 Casp8 caspase 8 gene DOID:630 genetic disease ISO RGD:730846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8769933 Casp8 caspase 8 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8769933 Casp8 caspase 8 gene DOID:684 hepatocellular carcinoma ISO RGD:730846 D RGD:7240710 20180130 OMIM 8769933 Casp8 caspase 8 gene DOID:684 hepatocellular carcinoma severity ISO RGD:730846 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:insertion/deletion:promoter: (rs3834129) (human) PMID:28643196|REF_RGD_ID:14695027 8769933 Casp8 caspase 8 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29133031|REF_RGD_ID:13782296 8769933 Casp8 caspase 8 gene DOID:700 mitochondrial metabolism disease ISO RGD:730846 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 8769933 Casp8 caspase 8 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450141|PMID:21472143 8769933 Casp8 caspase 8 gene DOID:9000197 Edema ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 8769933 Casp8 caspase 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 8769933 Casp8 caspase 8 gene DOID:9000469 Viral Myocarditis ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:21055654|REF_RGD_ID:13702877 8769933 Casp8 caspase 8 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:24939579|REF_RGD_ID:13782350 8769933 Casp8 caspase 8 gene DOID:9000998 Brain Injuries ISO RGD:620945 D RGD:9068941 20200609 RGD protein:altered localization PMID:15590916|REF_RGD_ID:1624191 8769933 Casp8 caspase 8 gene DOID:9001708 Hemorrhagic Shock ISO RGD:620945 D RGD:9068941 20200609 RGD associated with Brain Injuries, Traumatic PMID:29061477|REF_RGD_ID:13782298 8769933 Casp8 caspase 8 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:730846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8769933 Casp8 caspase 8 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:23423194|REF_RGD_ID:8661760 8769933 Casp8 caspase 8 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:15300206|REF_RGD_ID:14695087 8769933 Casp8 caspase 8 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620945 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29606028|REF_RGD_ID:13792586 8769933 Casp8 caspase 8 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620945 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:28456626|REF_RGD_ID:13782304 8769933 Casp8 caspase 8 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:23833961|REF_RGD_ID:13702874 8769933 Casp8 caspase 8 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17971790 8769933 Casp8 caspase 8 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28096675|REF_RGD_ID:13782306 8769933 Casp8 caspase 8 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:spinal cord PMID:18521931|REF_RGD_ID:2311436 8769933 Casp8 caspase 8 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 8769933 Casp8 caspase 8 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:23046993|REF_RGD_ID:13782359 8769933 Casp8 caspase 8 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29635023|REF_RGD_ID:13782292 8769933 Casp8 caspase 8 gene DOID:9004009 Reperfusion Injury ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 8769933 Casp8 caspase 8 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29621761|REF_RGD_ID:13782275 8769933 Casp8 caspase 8 gene DOID:9004354 Alcohol-Related Disorders treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:30118883|REF_RGD_ID:13782287 8769933 Casp8 caspase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8769933 Casp8 caspase 8 gene DOID:9004464 Skin Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563783 8769933 Casp8 caspase 8 gene DOID:9004484 Sepsis ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:18570579|REF_RGD_ID:2311435 8769933 Casp8 caspase 8 gene DOID:9004484 Sepsis treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29180187|REF_RGD_ID:13782295 8769933 Casp8 caspase 8 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:12810955|REF_RGD_ID:14695025 8769933 Casp8 caspase 8 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29755641|REF_RGD_ID:13782288 8769933 Casp8 caspase 8 gene DOID:9005020 Brain Contusion treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28140659|REF_RGD_ID:13782305 8769933 Casp8 caspase 8 gene DOID:9005172 Lung Neoplasms ISO RGD:730846 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 8769933 Casp8 caspase 8 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 8769933 Casp8 caspase 8 gene DOID:9005539 Familial Prostate Cancer ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8769933 Casp8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:pituitary gland, prolactin secreting cell PMID:15976052|REF_RGD_ID:2311319 8769933 Casp8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:pituitary gland PMID:19540304|REF_RGD_ID:2311427 8769933 Casp8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:17563067|REF_RGD_ID:2311429 8769933 Casp8 caspase 8 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28843149|REF_RGD_ID:13782300 8769933 Casp8 caspase 8 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:28992627|REF_RGD_ID:13782299 8769933 Casp8 caspase 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:25447754|REF_RGD_ID:10053709 8769933 Casp8 caspase 8 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:730846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8769933 Casp8 caspase 8 gene DOID:9007692 Insulin Resistance ISO RGD:620945 D RGD:9068941 20200609 RGD PMID:29748970|REF_RGD_ID:13782289 8769933 Casp8 caspase 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620945 D RGD:9068941 20200609 RGD protein:increased activity:cardiomyocyte PMID:11934844|REF_RGD_ID:13782263 8769933 Casp8 caspase 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 8769933 Casp8 caspase 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450141 8769933 Casp8 caspase 8 gene DOID:9008939 Breast Neoplasms ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15601643|PMID:17293864|PMID:17450141|PMID:29915430 8769933 Casp8 caspase 8 gene DOID:9008952 Breast Cancer, Familial ISO RGD:730846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 8769933 Casp8 caspase 8 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:730846 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8769933 Casp8 caspase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 8769933 Casp8 caspase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:17563067|REF_RGD_ID:2311429 8769933 Casp8 caspase 8 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730847 D RGD:9068941 20200609 RGD PMID:12753807|REF_RGD_ID:2311431 8769933 Casp8 caspase 8 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:730846 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22010212 8769955 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1345395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8769955 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome PMID:25741868|PMID:28492532 8769955 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0080722 Kenny-Caffey syndrome type 1 ISO RGD:1345395 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome PMID:12389028|PMID:15645691|PMID:2001103|PMID:25741868|PMID:27666369|PMID:7538982|PMID:9475091 8769955 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1345395 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 8769955 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ISO RGD:1345395 D RGD:7240710 20180130 OMIM 8769955 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ISO RGD:1345395 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 PMID:16199547|PMID:17576681|PMID:23453667|PMID:24084573|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26663670|PMID:28492532|PMID:29273094|PMID:29302074|PMID:29791932|PMID:31130284|PMID:31428121|PMID:33290285|PMID:34906519|PMID:9536098 8769955 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:10907 microcephaly ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8769955 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8769955 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28492532 8769955 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1345395 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12389028|PMID:15645691|PMID:16199547|PMID:17576681|PMID:2001103|PMID:23453667|PMID:25741868|PMID:27666369|PMID:28492532|PMID:31130284|PMID:7538982|PMID:9475091|PMID:9536098 8769955 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:9005242 Progressive Encephalopathy with Amyotrophy and Optic Atrophy ISO RGD:1345395 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy PMID:25741868 8769955 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8769971 Dctn5 dynactin subunit 5 gene DOID:630 genetic disease ISO RGD:1603378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769971 Dctn5 dynactin subunit 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20852946|PMID:20927582 8769986 CUNH8orf74 chromosome unknown C8orf74 homolog gene DOID:630 genetic disease ISO RGD:1606427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8769986 CUNH8orf74 chromosome unknown C8orf74 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8769994 Plac1 placenta enriched 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8769994 Plac1 placenta enriched 1 gene DOID:12849 autistic disorder ISO RGD:1351974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8769994 Plac1 placenta enriched 1 gene DOID:630 genetic disease ISO RGD:1351974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770015 Afap1l1 actin filament associated protein 1 like 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606158 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8770015 Afap1l1 actin filament associated protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1606158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770015 Afap1l1 actin filament associated protein 1 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8770015 Afap1l1 actin filament associated protein 1 like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606158 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8770049 Nkx6-2 NK6 homeobox 2 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1316381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8770049 Nkx6-2 NK6 homeobox 2 gene DOID:0080252 spastic ataxia 8 ISO RGD:1316381 D RGD:7240710 20190315 OMIM 8770049 Nkx6-2 NK6 homeobox 2 gene DOID:0080252 spastic ataxia 8 ISO RGD:1316381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy PMID:25741868|PMID:28492532|PMID:28575651|PMID:30285346|PMID:31509304|PMID:32860008 8770049 Nkx6-2 NK6 homeobox 2 gene DOID:630 genetic disease ISO RGD:1316381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8770067 Shtn1 shootin 1 gene DOID:630 genetic disease ISO RGD:1347565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770092 Fkbp11 FKBP prolyl isomerase 11 gene DOID:3910 lung adenocarcinoma ISO RGD:1314619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8770092 Fkbp11 FKBP prolyl isomerase 11 gene DOID:630 genetic disease ISO RGD:1314619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770092 Fkbp11 FKBP prolyl isomerase 11 gene DOID:9006205 Animal Disease Models ISO RGD:1314619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8770111 Morc2 MORC family CW-type zinc finger 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1321976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 8770111 Morc2 MORC family CW-type zinc finger 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1321976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 8770111 Morc2 MORC family CW-type zinc finger 2 gene DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z ISO RGD:1321976 D RGD:7240710 20180130 OMIM 8770111 Morc2 MORC family CW-type zinc finger 2 gene DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z ISO RGD:1321976 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Z PMID:12601114|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:27329773|PMID:27794525|PMID:28135719|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:31475037|PMID:31618753|PMID:31785789|PMID:32693025|PMID:33844363|PMID:34059105|PMID:34189813|PMID:7964809|PMID:9536098 8770111 Morc2 MORC family CW-type zinc finger 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1321976 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant PMID:26659848|PMID:28492532|PMID:31475037 8770111 Morc2 MORC family CW-type zinc finger 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1321976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12601114|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:33844363|PMID:34059105|PMID:34189813|PMID:7964809 8770111 Morc2 MORC family CW-type zinc finger 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1321976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:12601114|PMID:25741868|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:7964809 8770111 Morc2 MORC family CW-type zinc finger 2 gene DOID:630 genetic disease ISO RGD:1321976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12601114|PMID:17576681|PMID:25741868|PMID:25741893|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:27329773|PMID:27794525|PMID:28135719|PMID:28334961|PMID:28402445|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:34059105|PMID:7964809|PMID:9536098 8770111 Morc2 MORC family CW-type zinc finger 2 gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1321976 D RGD:7240710 20210217 OMIM 8770111 Morc2 MORC family CW-type zinc finger 2 gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1321976 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy PMID:12601114|PMID:25741868|PMID:26497905|PMID:26659848|PMID:26912637|PMID:27105897|PMID:27105987|PMID:28135719|PMID:28492532|PMID:28581500|PMID:28771897|PMID:29440755|PMID:30624633|PMID:31618753|PMID:31785789|PMID:32693025|PMID:34059105|PMID:7964809 8770111 Morc2 MORC family CW-type zinc finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321976 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28135719|PMID:28492532|PMID:31618753|PMID:31785789|PMID:32693025 8770111 Morc2 MORC family CW-type zinc finger 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1321976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741893|PMID:26497905|PMID:27105897|PMID:28492532|PMID:29440755|PMID:30624633|PMID:31211173|PMID:32693025|PMID:34059105 8770150 Naa16 N-alpha-acetyltransferase 16, NatA auxiliary subunit gene DOID:630 genetic disease ISO RGD:1606244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770172 Wdr46 WD repeat domain 46 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8770172 Wdr46 WD repeat domain 46 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353590 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8770172 Wdr46 WD repeat domain 46 gene DOID:630 genetic disease ISO RGD:1353590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770172 Wdr46 WD repeat domain 46 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8770172 Wdr46 WD repeat domain 46 gene DOID:9000918 Disease Progression ISO RGD:1353590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8770191 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8770191 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:0111051 platelet-type bleeding disorder 18 ISO RGD:1323188 D RGD:7240710 20180130 OMIM 8770191 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:0111051 platelet-type bleeding disorder 18 ISO RGD:1323188 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 | ClinVar Annotator: match by term: RASGRP2-related condition PMID:24958846|PMID:25741868|PMID:27235135|PMID:27663674|PMID:28492532|PMID:28637664|PMID:28983057|PMID:30046681|PMID:31064749|PMID:32581362|PMID:34355501 8770191 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:1059 intellectual disability ISO RGD:1323188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8770191 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:2213 hemorrhagic disease ISO RGD:1323188 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28983057|PMID:31064749 8770191 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:3070 high grade glioma ISO RGD:1323188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8770191 Rasgrp2 RAS guanyl releasing protein 2 gene DOID:630 genetic disease ISO RGD:1323188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8770222 Fam186b family with sequence similarity 186 member B gene DOID:12712 nephronophthisis ISO RGD:1604773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 8770222 Fam186b family with sequence similarity 186 member B gene DOID:630 genetic disease ISO RGD:1604773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8770240 Mtmr14 myotubularin related protein 14 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1605051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF PMID:17008356|PMID:19590496|PMID:25741868|PMID:28492532 8770240 Mtmr14 myotubularin related protein 14 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:1605051 D RGD:7240710 20180130 OMIM 8770240 Mtmr14 myotubularin related protein 14 gene DOID:2843 long QT syndrome ISO RGD:1605051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8770240 Mtmr14 myotubularin related protein 14 gene DOID:4001 ovarian carcinoma ISO RGD:1605051 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 8770240 Mtmr14 myotubularin related protein 14 gene DOID:422 congenital structural myopathy ISO RGD:1605051 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:17008356|PMID:25741868|PMID:28492532 8770240 Mtmr14 myotubularin related protein 14 gene DOID:630 genetic disease ISO RGD:1605051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8770240 Mtmr14 myotubularin related protein 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8770240 Mtmr14 myotubularin related protein 14 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1605051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8770273 Tceal7 transcription elongation factor A like 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8770273 Tceal7 transcription elongation factor A like 7 gene DOID:12849 autistic disorder ISO RGD:1347340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8770273 Tceal7 transcription elongation factor A like 7 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1347340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 8770273 Tceal7 transcription elongation factor A like 7 gene DOID:630 genetic disease ISO RGD:1347340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770273 Tceal7 transcription elongation factor A like 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8770277 Eif5 eukaryotic translation initiation factor 5 gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:736122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 8770277 Eif5 eukaryotic translation initiation factor 5 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:736122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8770277 Eif5 eukaryotic translation initiation factor 5 gene DOID:5419 schizophrenia ISO RGD:736122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 8770277 Eif5 eukaryotic translation initiation factor 5 gene DOID:630 genetic disease ISO RGD:736122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770290 Pop1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0050640 anauxetic dysplasia 1 ISO RGD:1318482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8770290 Pop1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0080962 anauxetic dysplasia 2 ISO RGD:1318482 D RGD:7240710 20190315 OMIM 8770290 Pop1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0080962 anauxetic dysplasia 2 ISO RGD:1318482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 2 PMID:21455487|PMID:25741868|PMID:27380734|PMID:28067412|PMID:28492532|PMID:30408610 8770290 Pop1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:0111590 Cohen syndrome ISO RGD:1318482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8770290 Pop1 POP1 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1318482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31235738 8770310 Cd99 CD99 molecule (Xg blood group) gene DOID:12849 autistic disorder ISO RGD:1344139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8770310 Cd99 CD99 molecule (Xg blood group) gene DOID:3369 Ewing sarcoma ISO RGD:1344139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present PMID:25741868 8770310 Cd99 CD99 molecule (Xg blood group) gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:1344139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 8770318 Znf664 zinc finger protein 664 gene DOID:630 genetic disease ISO RGD:1606961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770324 Plekha5 pleckstrin homology domain containing A5 gene DOID:630 genetic disease ISO RGD:1344659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770324 Plekha5 pleckstrin homology domain containing A5 gene DOID:9004934 BILATERAL CLEFT LIP ISO RGD:1344659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cleft lip PMID:25741868 8770324 Plekha5 pleckstrin homology domain containing A5 gene DOID:9296 cleft lip ISO RGD:1344659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:29805042 8770359 Spp1 secreted phosphoprotein 1 gene DOID:0050851 glomerulosclerosis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:12675855|REF_RGD_ID:6903837 8770359 Spp1 secreted phosphoprotein 1 gene DOID:0080685 aortic dissection ISO RGD:736066 D RGD:9068941 20220929 RGD protein:increased expression:aorta (human) PMID:28167124|PMID:30787994|REF_RGD_ID:155260287|REF_RGD_ID:155260309 8770359 Spp1 secreted phosphoprotein 1 gene DOID:0111535 progressive osseous heteroplasia ISO RGD:736066 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 8770359 Spp1 secreted phosphoprotein 1 gene DOID:10286 prostate carcinoma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16331611|REF_RGD_ID:1581362 8770359 Spp1 secreted phosphoprotein 1 gene DOID:10320 asbestosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16221779|PMID:21514415 8770359 Spp1 secreted phosphoprotein 1 gene DOID:1074 kidney failure ISO RGD:736066 D RGD:9068941 20200609 RGD In type 2 diabetic patients PMID:21034455|REF_RGD_ID:6903271 8770359 Spp1 secreted phosphoprotein 1 gene DOID:11054 urinary bladder cancer ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:21483670|REF_RGD_ID:6903265 8770359 Spp1 secreted phosphoprotein 1 gene DOID:114 heart disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23558518 8770359 Spp1 secreted phosphoprotein 1 gene DOID:11832 visual epilepsy ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:12132583|REF_RGD_ID:1581327 8770359 Spp1 secreted phosphoprotein 1 gene DOID:1205 allergic disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8770359 Spp1 secreted phosphoprotein 1 gene DOID:12365 malaria ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16552072|REF_RGD_ID:1581333 8770359 Spp1 secreted phosphoprotein 1 gene DOID:13001 carotid stenosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 8770359 Spp1 secreted phosphoprotein 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9294829 8770359 Spp1 secreted phosphoprotein 1 gene DOID:13608 biliary atresia ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15845635|REF_RGD_ID:1581370 8770359 Spp1 secreted phosphoprotein 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15776015|REF_RGD_ID:1581381 8770359 Spp1 secreted phosphoprotein 1 gene DOID:1591 renovascular hypertension ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:12620700|REF_RGD_ID:1581326 8770359 Spp1 secreted phosphoprotein 1 gene DOID:1793 pancreatic cancer ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15970685|REF_RGD_ID:1581363 8770359 Spp1 secreted phosphoprotein 1 gene DOID:182 calcinosis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:18390899|REF_RGD_ID:6903869 8770359 Spp1 secreted phosphoprotein 1 gene DOID:182 calcinosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21193197|PMID:21335463 8770359 Spp1 secreted phosphoprotein 1 gene DOID:182 calcinosis ISO RGD:736066 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 8770359 Spp1 secreted phosphoprotein 1 gene DOID:1909 melanoma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15757900|REF_RGD_ID:1581337 8770359 Spp1 secreted phosphoprotein 1 gene DOID:2237 hepatitis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15712659|REF_RGD_ID:1581383 8770359 Spp1 secreted phosphoprotein 1 gene DOID:2377 multiple sclerosis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:11721059|REF_RGD_ID:1581329 8770359 Spp1 secreted phosphoprotein 1 gene DOID:2377 multiple sclerosis ISO RGD:736066 D RGD:9068941 20200609 RGD DNA, protein:SNPs, haplotypes, increased expression:multiple, serum PMID:15885319|REF_RGD_ID:1581472 8770359 Spp1 secreted phosphoprotein 1 gene DOID:26 pancreas disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20495387 8770359 Spp1 secreted phosphoprotein 1 gene DOID:2921 glomerulonephritis disease_progression ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:20720406|REF_RGD_ID:6903272 8770359 Spp1 secreted phosphoprotein 1 gene DOID:299 adenocarcinoma ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20495387|PMID:21552421 8770359 Spp1 secreted phosphoprotein 1 gene DOID:3021 acute kidney failure ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:22863853|REF_RGD_ID:6903264 8770359 Spp1 secreted phosphoprotein 1 gene DOID:3021 acute kidney failure ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11274264|PMID:20623750 8770359 Spp1 secreted phosphoprotein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14555839 8770359 Spp1 secreted phosphoprotein 1 gene DOID:3070 high grade glioma ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:16651633|REF_RGD_ID:1581321 8770359 Spp1 secreted phosphoprotein 1 gene DOID:3070 high grade glioma ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16651633 8770359 Spp1 secreted phosphoprotein 1 gene DOID:3393 coronary artery disease ISO RGD:736066 D RGD:9068941 20200609 RGD In type 2 diabetic patients PMID:21034455|REF_RGD_ID:6903271 8770359 Spp1 secreted phosphoprotein 1 gene DOID:3627 aortic aneurysm ISO RGD:736066 D RGD:9068941 20220929 RGD protein:increased expression:aorta (human) PMID:25465469|REF_RGD_ID:155260284 8770359 Spp1 secreted phosphoprotein 1 gene DOID:3770 pulmonary fibrosis ISO RGD:11340 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome;mRNA:increased expression:lung: PMID:31838832|REF_RGD_ID:30309204 8770359 Spp1 secreted phosphoprotein 1 gene DOID:3770 pulmonary fibrosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25216247 8770359 Spp1 secreted phosphoprotein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16533775|REF_RGD_ID:1581361 8770359 Spp1 secreted phosphoprotein 1 gene DOID:399 tuberculosis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15863395|REF_RGD_ID:1581371 8770359 Spp1 secreted phosphoprotein 1 gene DOID:4079 heart valve disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8770359 Spp1 secreted phosphoprotein 1 gene DOID:4247 coronary restenosis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:12114325|REF_RGD_ID:1581358 8770359 Spp1 secreted phosphoprotein 1 gene DOID:4247 coronary restenosis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16373617|REF_RGD_ID:1581366 8770359 Spp1 secreted phosphoprotein 1 gene DOID:4306 radiculopathy ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:14513263|REF_RGD_ID:1581324 8770359 Spp1 secreted phosphoprotein 1 gene DOID:4676 uremia ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 8770359 Spp1 secreted phosphoprotein 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:20504883|REF_RGD_ID:6903276 8770359 Spp1 secreted phosphoprotein 1 gene DOID:5082 liver cirrhosis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16221502 8770359 Spp1 secreted phosphoprotein 1 gene DOID:5434 scrapie ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16412998|REF_RGD_ID:1581331 8770359 Spp1 secreted phosphoprotein 1 gene DOID:552 pneumonia ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8770359 Spp1 secreted phosphoprotein 1 gene DOID:557 kidney disease ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27026710 8770359 Spp1 secreted phosphoprotein 1 gene DOID:576 proteinuria ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11972865 8770359 Spp1 secreted phosphoprotein 1 gene DOID:5844 myocardial infarction ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:14500723|REF_RGD_ID:1581325 8770359 Spp1 secreted phosphoprotein 1 gene DOID:5844 myocardial infarction ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:12939547|REF_RGD_ID:1581386 8770359 Spp1 secreted phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:736066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770359 Spp1 secreted phosphoprotein 1 gene DOID:640 encephalomyelitis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:11721059|REF_RGD_ID:1581329 8770359 Spp1 secreted phosphoprotein 1 gene DOID:640 encephalomyelitis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:11721059|REF_RGD_ID:1581329 8770359 Spp1 secreted phosphoprotein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16047475|REF_RGD_ID:1581375 8770359 Spp1 secreted phosphoprotein 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736066 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8770359 Spp1 secreted phosphoprotein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15761492|REF_RGD_ID:1581382 8770359 Spp1 secreted phosphoprotein 1 gene DOID:820 myocarditis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:16679731|REF_RGD_ID:1581118 8770359 Spp1 secreted phosphoprotein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:17582161|PMID:22863349|PMID:25741868|PMID:28492532 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15592854|REF_RGD_ID:6483848 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15735673|REF_RGD_ID:1581341 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9000315 Pleural Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16221779 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9000352 Vascular System Injuries ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11868353 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9000483 Angina Pectoris ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16421174|REF_RGD_ID:1581390 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9000784 Fibrosis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15123578|REF_RGD_ID:1581343 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16474180|REF_RGD_ID:1581330 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18703563 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9001542 Albuminuria ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:18443355|REF_RGD_ID:6903862 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16221502|REF_RGD_ID:1581332 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:16221502|REF_RGD_ID:1581332 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9001600 Wounds and Injuries ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9525990 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9001665 Aneurysm ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:11567232|REF_RGD_ID:1581391 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:12032186|REF_RGD_ID:1581328 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21852811 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15867270|REF_RGD_ID:1581338 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16105024|REF_RGD_ID:1581334 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:21378157|REF_RGD_ID:6903839 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10890885|PMID:8325891 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9002315 Kidney Calculi ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15954903|REF_RGD_ID:1581372 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9002438 Foreign-Body Reaction ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15949549|REF_RGD_ID:1581336 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20440599 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9002704 Leukoencephalopathies ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11868353 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16428483|REF_RGD_ID:1581364 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9003204 Neovascularization, Pathologic ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:11920639|REF_RGD_ID:1581359 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9003311 Urinary Calculi ISO RGD:736066 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R9402H (human) PMID:16145474|REF_RGD_ID:1581368 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9003311 Urinary Calculi no_association ISO RGD:736066 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.N9171S (human) PMID:16145474|REF_RGD_ID:1581368 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9003566 Mesothelioma ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16221779|PMID:18550471 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9003613 Laryngeal Neoplasms ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16299231|REF_RGD_ID:1581365 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9003936 Cardiomegaly ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15534078|REF_RGD_ID:1581339 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:20548025|REF_RGD_ID:6903275 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736066 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-443C>T, -1748G>A (human) PMID:15868370|REF_RGD_ID:1581374 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16633066|REF_RGD_ID:1581360 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:15998773|REF_RGD_ID:1581369 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421|PMID:22481206 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15318939 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9005372 Inflammation ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:16105024|REF_RGD_ID:1581334 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:16528250|REF_RGD_ID:1581322 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9006062 Nervous System Trauma ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:15625076|REF_RGD_ID:1581125 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9006081 Osteolysis ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3752 D RGD:9068941 20200609 RGD PMID:15531104|REF_RGD_ID:1581323 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16980342 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9007502 Brain Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16651633 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:11340 D RGD:9068941 20200609 RGD PMID:15165989|REF_RGD_ID:1581342 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9008105 Cystic, Mucinous, and Serous Neoplasms ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16633066|REF_RGD_ID:1581360 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949741|PMID:22531848 8770359 Spp1 secreted phosphoprotein 1 gene DOID:9538 multiple myeloma ISO RGD:736066 D RGD:9068941 20200609 RGD PMID:16208410|REF_RGD_ID:1581367 8770379 Sgk3 serum/glucocorticoid regulated kinase family member 3 gene DOID:10283 prostate cancer ISO RGD:1354188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8770379 Sgk3 serum/glucocorticoid regulated kinase family member 3 gene DOID:4535 hypotrichosis ISO RGD:12199930 D RGD:9068941 20230824 OMIA Hypotrichosis, recessive PMID:17083571|PMID:27994129|PMID:30927068|PMID:31727632|PMID:3367039|PMID:37191329|PMID:37582787 8770379 Sgk3 serum/glucocorticoid regulated kinase family member 3 gene DOID:630 genetic disease ISO RGD:1354188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:0050860 colorectal adenoma severity ISO RGD:1606586 D RGD:9068941 20220303 RGD DNA:SNPs:intron, CDS: (rs927650), (rs35051736) (human) PMID:26241700|REF_RGD_ID:11521055 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:0050860 colorectal adenoma treatment ISO RGD:1606586 D RGD:9068941 20220505 RGD DNA:SNP:CDS: (rs2296241) (human) PMID:27978548|REF_RGD_ID:152025254 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNPs:enhancers: (rs6013897, rs158552, rs17217119) (human) PMID:28009432|REF_RGD_ID:151665179 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:exon: (rs2296241) (human) PMID:22612324|REF_RGD_ID:151665337 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:0060041 autism spectrum disorder ISO RGD:1606586 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:737342 D RGD:9068941 20220421 RGD PMID:22982628|REF_RGD_ID:151708740 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:10591 pre-eclampsia ISO RGD:1606586 D RGD:9068941 20231130 RGD associated with hypoxia; protein:increased expression:placenta (human) PMID:22871339|REF_RGD_ID:401901075 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:10591 pre-eclampsia ISO RGD:1606586 D RGD:9068941 20231130 RGD mRNA:increased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:1074 kidney failure ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8164439 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:11476 osteoporosis ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:11714 gestational diabetes ISO RGD:1606586 D RGD:9068941 20231130 RGD mRNA:increased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:12678 hypercalcemia ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:1324 lung cancer ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:increased expression:lung (human) PMID:16180015|REF_RGD_ID:151361183 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:intron: (rs2765934) (human) PMID:31264381|REF_RGD_ID:151665340 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:1993 rectum cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:intron: (rs6022999) (human) PMID:31740231|REF_RGD_ID:151665338 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:219 colon cancer ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:increased expression:colon (human) PMID:16180015|REF_RGD_ID:151361183 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:219 colon cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNP:intron: IVS4-66T>G, (rs4809958) (human) PMID:19706847|REF_RGD_ID:151665174 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:219 colon cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNPs:multiple (human) PMID:28811712|REF_RGD_ID:151665177 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:219 colon cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNPs:introns: (rs4809960, rs6022999) (human) PMID:31740231|REF_RGD_ID:151665338 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:234 colon adenocarcinoma ISO RGD:1606586 D RGD:9068941 20220317 RGD mRNA:increased expression:colonic mucosa (human) PMID:27793774|REF_RGD_ID:151665173 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:234 colon adenocarcinoma ISO RGD:1606586 D RGD:9068941 20220407 RGD mRNA:increased expression:colon (human) PMID:33791222|REF_RGD_ID:151665790 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3459 breast carcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:decreased expression:breast (human) PMID:16180015|REF_RGD_ID:151361183 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3713 ovary adenocarcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:increased expression:ovary (human) PMID:16180015|REF_RGD_ID:151361183 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220331 RGD DNA:SNP:CDS: (rs2296241) (human) PMID:28362172|REF_RGD_ID:151665500 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3905 lung carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220407 RGD DNA:SNP:3' utr: (rs4809957) (human) PMID:22797725|REF_RGD_ID:151665791 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606586 D RGD:9068941 20220421 RGD RNA:increased expression:lung (human) PMID:17671213|REF_RGD_ID:151708738 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1606586 D RGD:9068941 20220303 RGD DNA:SNP:intron 4: (rs3787554) (human) PMID:23435876|REF_RGD_ID:151361182 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:increased expression:lung (human) PMID:21169243|PMID:29250167|REF_RGD_ID:151361179|REF_RGD_ID:151361185 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNP:exon, intron: (rs6068816, rs2181874) (human) PMID:27669215|REF_RGD_ID:151665175 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220407 RGD DNA:SNPs:CDS, 3' utr: (rs6068816, rs4809957) (human) PMID:25544771|REF_RGD_ID:151665789 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220421 RGD DNA:SNPs:multiple (human) PMID:29726119|REF_RGD_ID:151708739 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3910 lung adenocarcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD DNA:hypomethylation:promoter (human) PMID:24736069|REF_RGD_ID:151361181 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1606586 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:27793774|REF_RGD_ID:151665173 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1606586 D RGD:9068941 20220331 RGD mRNA:decreased expression:lung (human) PMID:25519225|REF_RGD_ID:151665499 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:1606586 D RGD:9068941 20220317 RGD mRNA:increased expression:esophagus (human) PMID:30187205|REF_RGD_ID:151665176 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:4947 cholangiocarcinoma ISO RGD:1606586 D RGD:9068941 20220303 RGD protein:increased expression:intrahepatic bile, extrahepatic bile duct (human) PMID:23375797|REF_RGD_ID:151361187 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:5041 esophageal cancer ameliorates ISO RGD:1606586 D RGD:9068941 20220505 RGD RNA:decreased expression:esophagus (human) PMID:14760115|REF_RGD_ID:152025255 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:CDS: (rs6068816) (human) PMID:31264381|REF_RGD_ID:151665340 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:585 nephrolithiasis ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:630 genetic disease ISO RGD:1606586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNPs:multiple (human) PMID:28811712|REF_RGD_ID:151665177 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9001738 Hypercalciuria ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22337913 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9003281 Spontaneous Abortions ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9004271 Colonic Polyps susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNPs:multiple (human) PMID:28811712|REF_RGD_ID:151665177 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9004831 Colitis-Associated Neoplasms treatment ISO RGD:737342 D RGD:9068941 20220324 RGD PMID:31877961|REF_RGD_ID:151665341 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9005172 Lung Neoplasms ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22797725 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9005216 Infantile Hypercalcemia ISO RGD:1606586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile hypercalcemia 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9006743 Spasm ISO RGD:1606586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle spasm PMID:21675912|PMID:22047571|PMID:23001465|PMID:23485543|PMID:24518185|PMID:25194629|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:27394135|PMID:27798933|PMID:28470390|PMID:28492532|PMID:3490596 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9006956 nephrotoxicity treatment ISO RGD:2462 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9007094 Hypercalcemia, Infantile, 1 ISO RGD:1606586 D RGD:7240710 20180704 OMIM 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9007094 Hypercalcemia, Infantile, 1 ISO RGD:1606586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 PMID:19961857|PMID:21675912|PMID:22047571|PMID:22100522|PMID:22112808|PMID:23001465|PMID:23293122|PMID:23423976|PMID:23470222|PMID:23485543|PMID:24033266|PMID:24518185|PMID:25194629|PMID:25375986|PMID:25446019|PMID:25741868|PMID:26097993|PMID:26117226|PMID:26214117|PMID:26846157|PMID:27394135|PMID:27798933|PMID:28109821|PMID:28470390|PMID:28492532|PMID:32375123|PMID:33952337|PMID:3490596 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9008939 Breast Neoplasms ISO RGD:1606586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280049 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:9068941 20220317 RGD mRNA:increased expression:colorectal mucosa (human) PMID:23463632|PMID:24213465|REF_RGD_ID:151361180|REF_RGD_ID:151665178 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:9068941 20220324 RGD mRNA:increased expression:colorectum (human) PMID:26997443|REF_RGD_ID:11526316 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9256 colorectal cancer ISO RGD:1606586 D RGD:9068941 20220331 RGD circRNA:increased expression:colorectum (human) PMID:32803502|REF_RGD_ID:151665496 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9256 colorectal cancer disease_progression ISO RGD:1606586 D RGD:9068941 20220407 RGD mRNA:increased expression:colon (human) PMID:26260259|REF_RGD_ID:151665788 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9256 colorectal cancer severity ISO RGD:1606586 D RGD:9068941 20220324 RGD DNA:SNP:intron: (rs2765934) (human) PMID:28821819|REF_RGD_ID:151665339 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1606586 D RGD:9068941 20220303 RGD mRNA:splice variants:colorectal mucosa (human) PMID:20398751|REF_RGD_ID:151361186 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9256 colorectal cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220317 RGD DNA:SNP:intron: (rs4809960) (human) PMID:31802707|REF_RGD_ID:151665172 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9256 colorectal cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220331 RGD DNA:missense mutation:CDS: (rs6022990) (human) PMID:24562971|REF_RGD_ID:151665501 8770414 LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial gene DOID:9256 colorectal cancer susceptibility ISO RGD:1606586 D RGD:9068941 20220421 RGD DNA:SNP:enhancer: (rs6013897) (human) PMID:33504116|REF_RGD_ID:151708714 8770430 Cep57l1 centrosomal protein 57 like 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1347020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8770430 Cep57l1 centrosomal protein 57 like 1 gene DOID:630 genetic disease ISO RGD:1347020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770468 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:731903 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8770468 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:12849 autistic disorder ISO RGD:731903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8770468 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:14330 Parkinson's disease ISO RGD:2505 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles PMID:15703272|REF_RGD_ID:2306834 8770468 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:731903 D RGD:9068941 20200609 RGD DNA:mutation:CDS:multiple nonsynonymous mutations PMID:14871824|REF_RGD_ID:2306813 8770468 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:5419 schizophrenia ISO RGD:731903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8770468 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:630 genetic disease ISO RGD:731903 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8770468 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:674 cleft palate ISO RGD:731903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11238884 8770468 Dlg1 discs large MAGUK scaffold protein 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:731903 D RGD:9068941 20200609 RGD protein:decreased expression:cervical lesions:targetted by the HPV oncoprotein E6 for ubiquitin-mediated proteolysis PMID:15221964|REF_RGD_ID:2306812 8770540 Prok1 prokineticin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736057 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8770540 Prok1 prokineticin 1 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:736057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 8770540 Prok1 prokineticin 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:736057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8770540 Prok1 prokineticin 1 gene DOID:12849 autistic disorder ISO RGD:736057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8770540 Prok1 prokineticin 1 gene DOID:630 genetic disease ISO RGD:736057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770583 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8770583 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1346332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 8770583 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1346332 D RGD:7240710 20180130 OMIM 8770583 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:0111478 combined oxidative phosphorylation deficiency 20 ISO RGD:1346332 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 | ClinVar Annotator: match by term: VARS2-related condition | ClinVar Annotator: match by term: VARS2-related disorders PMID:12345|PMID:16199547|PMID:24639874|PMID:24827421|PMID:25058219|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34362006 8770583 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:11372 megacolon ISO RGD:1346332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8770583 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1346332 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12345|PMID:24639874|PMID:24827421|PMID:25741868|PMID:27290639|PMID:27502409|PMID:28492532|PMID:29313548|PMID:29314548|PMID:29478218|PMID:30458719|PMID:30925032|PMID:31064326|PMID:31623496|PMID:33937156|PMID:34216551|PMID:34362006 8770583 Vars2 valyl-tRNA synthetase 2, mitochondrial gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:1346332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 8770617 Xrcc6 X-ray repair cross complementing 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8770617 Xrcc6 X-ray repair cross complementing 6 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:732846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8770617 Xrcc6 X-ray repair cross complementing 6 gene DOID:1749 squamous cell carcinoma ISO RGD:732846 D RGD:9068941 20200609 RGD protein:increased expression:epidermal cell, squamous cell of epidermis (human) PMID:16497868|REF_RGD_ID:8698657 8770617 Xrcc6 X-ray repair cross complementing 6 gene DOID:2513 basal cell carcinoma ISO RGD:732846 D RGD:9068941 20200609 RGD protein:increased expression:epidermal cell, basal cell of epidermis (human) PMID:16497868|REF_RGD_ID:8698657 8770617 Xrcc6 X-ray repair cross complementing 6 gene DOID:3910 lung adenocarcinoma ISO RGD:732846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8770617 Xrcc6 X-ray repair cross complementing 6 gene DOID:630 genetic disease ISO RGD:732846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770617 Xrcc6 X-ray repair cross complementing 6 gene DOID:9006205 Animal Disease Models ISO RGD:732846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8770648 Ccnl1 cyclin L1 gene DOID:630 genetic disease ISO RGD:733406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770695 Cwc15 CWC15 spliceosome associated protein homolog gene DOID:1059 intellectual disability ISO RGD:1604821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8770695 Cwc15 CWC15 spliceosome associated protein homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1604821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8770695 Cwc15 CWC15 spliceosome associated protein homolog gene DOID:630 genetic disease ISO RGD:1604821 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770706 Tmem35a transmembrane protein 35A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8770706 Tmem35a transmembrane protein 35A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8770706 Tmem35a transmembrane protein 35A gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8770706 Tmem35a transmembrane protein 35A gene DOID:12849 autistic disorder ISO RGD:1345227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 PMID:21681106|PMID:30208311 8770706 Tmem35a transmembrane protein 35A gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1345227 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 8770718 Fzd10 frizzled class receptor 10 gene DOID:630 genetic disease ISO RGD:1347205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770729 Zyg11b zyg-11 family member B, cell cycle regulator gene DOID:2907 Goldenhar syndrome ISO RGD:1606215 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Goldenhar syndrome PMID:25741868|PMID:32738032 8770729 Zyg11b zyg-11 family member B, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1606215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770746 Olfm2 olfactomedin 2 gene DOID:12849 autistic disorder ISO RGD:1320243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8770746 Olfm2 olfactomedin 2 gene DOID:630 genetic disease ISO RGD:1320243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770763 Tbx3 T-box transcription factor 3 gene DOID:0060614 ulnar-mammary syndrome ISO RGD:1345948 D RGD:7240710 20180130 OMIM 8770763 Tbx3 T-box transcription factor 3 gene DOID:0060614 ulnar-mammary syndrome ISO RGD:1345948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: TBX3-related condition | ClinVar Annotator: match by term: Ulnar-mammary syndrome PMID:12116211|PMID:12668170|PMID:16530712|PMID:16896345|PMID:17576681|PMID:19938096|PMID:25741868|PMID:28145909|PMID:28492532|PMID:30654152|PMID:31669645|PMID:9207801|PMID:9536098 8770763 Tbx3 T-box transcription factor 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1345948 D RGD:9068941 20220224 RGD protein:increased expression:stomach (human) PMID:27553355|REF_RGD_ID:151361120 8770763 Tbx3 T-box transcription factor 3 gene DOID:2394 ovarian cancer ISO RGD:1345948 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17031801|REF_RGD_ID:2300329 8770763 Tbx3 T-box transcription factor 3 gene DOID:50 thyroid gland disease ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 8770763 Tbx3 T-box transcription factor 3 gene DOID:5844 myocardial infarction ISO RGD:735203 D RGD:9068941 20200609 RGD PMID:19341743|REF_RGD_ID:5132891 8770763 Tbx3 T-box transcription factor 3 gene DOID:630 genetic disease ISO RGD:1345948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12005433|PMID:25741868|PMID:28145909|PMID:28492532 8770763 Tbx3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1557562 D RGD:9068941 20220224 RGD PMID:33577921|REF_RGD_ID:151361112 8770763 Tbx3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1345948 D RGD:9068941 20220224 RGD human cells in mouse model PMID:22811581|PMID:26922018|REF_RGD_ID:151361123|REF_RGD_ID:151361132 8770763 Tbx3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345948 D RGD:9068941 20220224 RGD protein:increased expression:liver (human) PMID:30578408|REF_RGD_ID:151361122 8770763 Tbx3 T-box transcription factor 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1345948 D RGD:9068941 20220224 RGD protein:increased expression:liver (human) PMID:29295731|REF_RGD_ID:151361114 8770763 Tbx3 T-box transcription factor 3 gene DOID:7566 eccrine porocarcinoma ISO RGD:1345948 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Eccrine porocarcinoma 8770763 Tbx3 T-box transcription factor 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8770763 Tbx3 T-box transcription factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8770763 Tbx3 T-box transcription factor 3 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207801 8770763 Tbx3 T-box transcription factor 3 gene DOID:9007096 Stroke ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8770763 Tbx3 T-box transcription factor 3 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1345948 D RGD:9068941 20200609 RGD Ulnar-Mammary Syndrome, OMIM:181450;DNA:deletions, missense mutations, frameshift mutations: :multiple PMID:10330342|REF_RGD_ID:1601419 8770763 Tbx3 T-box transcription factor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21098263 8770763 Tbx3 T-box transcription factor 3 gene DOID:9009007 Tooth Abnormalities ISO RGD:1345948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207801 8770763 Tbx3 T-box transcription factor 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345948 D RGD:9068941 20220224 RGD mRNA,protein:increased expression:colorectum (human) PMID:25628943|REF_RGD_ID:151361126 8770763 Tbx3 T-box transcription factor 3 gene DOID:9970 obesity ISO RGD:1345948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:28492532 8770778 Tmem185a transmembrane protein 185A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8770778 Tmem185a transmembrane protein 185A gene DOID:12849 autistic disorder ISO RGD:1347995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8770778 Tmem185a transmembrane protein 185A gene DOID:630 genetic disease ISO RGD:1347995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770813 Rnaseh2c ribonuclease H2 subunit C gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1604574 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:16845400|PMID:17576681|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:23322642|PMID:25604658|PMID:25741868|PMID:28492532|PMID:29150899|PMID:29239743|PMID:31529068|PMID:34302356|PMID:9536098 8770813 Rnaseh2c ribonuclease H2 subunit C gene DOID:1059 intellectual disability ISO RGD:1604574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8770813 Rnaseh2c ribonuclease H2 subunit C gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8770813 Rnaseh2c ribonuclease H2 subunit C gene DOID:2746 glycogen storage disease V ISO RGD:1604574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8770813 Rnaseh2c ribonuclease H2 subunit C gene DOID:630 genetic disease ISO RGD:1604574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8770813 Rnaseh2c ribonuclease H2 subunit C gene DOID:9000615 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ISO RGD:1604574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities PMID:25741868|PMID:32822602 8770813 Rnaseh2c ribonuclease H2 subunit C gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604574 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8770813 Rnaseh2c ribonuclease H2 subunit C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604574 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8770813 Rnaseh2c ribonuclease H2 subunit C gene DOID:9006534 Nervous System Malformations ISO RGD:1604574 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16845400|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:23322642|PMID:25604658|PMID:25741868|PMID:28492532|PMID:29150899|PMID:29239743|PMID:31529068|PMID:34302356 8770813 Rnaseh2c ribonuclease H2 subunit C gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604574 D RGD:7240710 20180130 OMIM 8770813 Rnaseh2c ribonuclease H2 subunit C gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:23322642|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28600438|PMID:29150899|PMID:29239743|PMID:29389947|PMID:30315573|PMID:31130681|PMID:31529068|PMID:32404165|PMID:34008892|PMID:34055681|PMID:34302356|PMID:9536098 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:0050581 brachydactyly ISO RGD:737570 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:27030597|PMID:28492532|PMID:30171907|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.M694V,E148Q(human) PMID:22351163|REF_RGD_ID:11531114 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:0080746 Sweet syndrome ISO RGD:737570 D RGD:7240710 20200701 OMIM 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:0080746 Sweet syndrome ISO RGD:737570 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Acute febrile neutrophilic dermatosis | ClinVar Annotator: match by term: Gomm Button disease | ClinVar Annotator: match by term: MEFV-related condition PMID:10024914|PMID:10090880|PMID:10364520|PMID:10447272|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10842288|PMID:10879615|PMID:10905662|PMID:11017802|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12401847|PMID:12687559|PMID:12908875|PMID:14578331|PMID:14578333|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15024744|PMID:15168590|PMID:15300846|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17276496|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17665427|PMID:17665448|PMID:18353061|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19729025|PMID:19777236|PMID:19786432|PMID:19790133|PMID:19863562|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20437121|PMID:20483145|PMID:20534143|PMID:20645115|PMID:20669279|PMID:20721559|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22281876|PMID:22451026|PMID:22505824|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23010357|PMID:23031807|PMID:23155201|PMID:23280696|PMID:23325590|PMID:23334425|PMID:23463692|PMID:23505242|PMID:23588594|PMID:23633568|PMID:23716950|PMID:23862117|PMID:23907647|PMID:23973724|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24263150|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:25006247|PMID:25036384|PMID:25332561|PMID:25393764|PMID:25626331|PMID:25648235|PMID:25703702|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25810876|PMID:25821352|PMID:25974247|PMID:26003477|PMID:26005881|PMID:26028444|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26360812|PMID:26399837|PMID:26467025|PMID:26510601|PMID:26574972|PMID:26585190|PMID:26843738|PMID:27030597|PMID:27473114|PMID:27513391|PMID:27621632|PMID:27659338|PMID:27872624|PMID:27884173|PMID:28211254|PMID:28289585|PMID:28340799|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28678379|PMID:28814775|PMID:28835462|PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30171907|PMID:30355575|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30887796|PMID:31088470|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31531243|PMID:31589380|PMID:31646357|PMID:31693653|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32199921|PMID:32359823|PMID:32398039|PMID:32401353|PMID:32441320|PMID:32447396|PMID:32716837|PMID:32818295|PMID:32824452|PMID:32853466|PMID:32909274|PMID:33079202|PMID:33223529|PMID:33440462|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34880353|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35358658|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9536098|PMID:9668175|PMID:9715731|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:10907 microcephaly ISO RGD:737570 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:27030597|PMID:28492532|PMID:30171907|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutation:exon:p. E148Q (human) PMID:20602240|REF_RGD_ID:7349347 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:22451026|REF_RGD_ID:7349346 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:25232290|REF_RGD_ID:11531116 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:11383 cryptorchidism ISO RGD:737570 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: undescended testicle PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16498449|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:20041150|PMID:21290976|PMID:21600797|PMID:22037353|PMID:22337722|PMID:22903357|PMID:23010357|PMID:23070486|PMID:23325590|PMID:23334425|PMID:23867542|PMID:23907647|PMID:24117178|PMID:24318677|PMID:24369413|PMID:25203624|PMID:25741868|PMID:26247045|PMID:26554556|PMID:26620106|PMID:27030597|PMID:27838405|PMID:28421071|PMID:28492532|PMID:29178647|PMID:29260407|PMID:29599418|PMID:29927949|PMID:30171907|PMID:31411330|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:12849 autistic disorder ISO RGD:737570 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:27030597|PMID:28492532|PMID:30171907|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:13241 Behcet's disease ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:25741868|PMID:28492532|PMID:28814775|PMID:31411330 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:1682 congenital heart disease ISO RGD:737570 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:10090880|PMID:10611954|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24033266|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:28483595|PMID:28492532|PMID:29047407|PMID:29543225|PMID:29599418|PMID:31989427|PMID:32312770|PMID:33733382|PMID:34426522|PMID:35098403|PMID:9668175 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:1826 epilepsy ISO RGD:737570 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:27030597|PMID:28492532|PMID:30171907|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:737570 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:737570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2280 hidradenitis suppurativa ISO RGD:737570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2303 stereotypic movement disorder ISO RGD:737570 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:27030597|PMID:28492532|PMID:30171907|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2841 asthma susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutations:exons PMID:18219832|REF_RGD_ID:5129186 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14612366|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15168590|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20828792|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22207183|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23164758|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24702757|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:27030597|PMID:27100444|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27733942|PMID:27838405|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28750028|PMID:28863210 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28927886|PMID:28943464|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31531243|PMID:31620089|PMID:31646357|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34426522|PMID:35098403|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15146467|PMID:15168590|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:17665448|PMID:17934081|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24702757|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:27030597|PMID:27100444|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27838405|PMID:27884173|PMID:27956278|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28386255|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:28597968|PMID:28750028|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29040788|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31512232|PMID:31531243|PMID:31598713|PMID:31620089|PMID:31646357|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32401353|PMID:32447396|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34120219|PMID:34328662|PMID:34426522|PMID:35098403|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15146467|PMID:15168590|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:17665448|PMID:17934081|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19531756|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24702757|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25810876|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26005881|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:26933204|PMID:27030597|PMID:27100444|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27838405|PMID:27884173|PMID:27956278|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28302131|PMID:28386255|PMID:28421071|PMID:28483595|PMID:28492532 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737570 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28573371|PMID:28590056|PMID:28597968|PMID:28678379|PMID:28750028|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29040788|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31512232|PMID:31531243|PMID:31598713|PMID:31620089|PMID:31646357|PMID:31693653|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32398039|PMID:32401353|PMID:32447396|PMID:32461654|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:32909274|PMID:33079202|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:34120219|PMID:34328662|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34880353|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9715731|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial mediterranean fever ISO RGD:737570 D RGD:7240710 20180130 OMIM 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial mediterranean fever ISO RGD:737570 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Familial Periodic Fever | ClinVar Annotator: match by term: Periodic disease PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11139259|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14636645|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15146467|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16199547|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17594097|PMID:17665427|PMID:17665448|PMID:17934081|PMID:17938136|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19262573|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22281876|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23280696|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23862117|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24718488|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24950168|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26574972|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial mediterranean fever ISO RGD:737570 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Familial Periodic Fever | ClinVar Annotator: match by term: Periodic disease PMID:26933204|PMID:2703059|PMID:27030597|PMID:27100444|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27956278|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28386255|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28750028|PMID:28814775|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29040788|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30546872|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31522233|PMID:31531243|PMID:31589380|PMID:31598713|PMID:31620089|PMID:31646357|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32401353|PMID:32441320|PMID:32447396|PMID:32461654|PMID:32741030|PMID:32853466|PMID:32909274|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34120219|PMID:34328662|PMID:34426522|PMID:35098403|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial mediterranean fever ISO RGD:737570 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854105|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11139259|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12124996|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14636645|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15146467|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15720244|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16199547|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16498449|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17329916|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17594097|PMID:17665427|PMID:17665448|PMID:17934081|PMID:17938136|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19262573|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19762364|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19877056|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21562927|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22281876|PMID:22337722|PMID:22451026|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23006543|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23070486|PMID:23137073|PMID:23155201|PMID:23166428|PMID:23206577|PMID:23217869|PMID:23280696|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23437051|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23847694|PMID:23862117|PMID:23867542|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24261781|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24383976|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24718488|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24950168|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25088882|PMID:25203624|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25671271|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25810876|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26005881|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26554556|PMID:26574972|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:2987 familial mediterranean fever ISO RGD:737570 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease PMID:26759267|PMID:26843738|PMID:26933204|PMID:2703059|PMID:27030597|PMID:27100444|PMID:27310525|PMID:27332769|PMID:27333294|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27838405|PMID:27872624|PMID:27884173|PMID:27956278|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28386255|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28678379|PMID:28750028|PMID:28814775|PMID:28863210|PMID:28927886|PMID:28943464|PMID:29040788|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29151129|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228|PMID:29526930|PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30235678|PMID:30355575|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30887796|PMID:30915208|PMID:30996171|PMID:31088470|PMID:31204589|PMID:31264586|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31522233|PMID:31531243|PMID:31589380|PMID:31598713|PMID:31620089|PMID:31646357|PMID:31693653|PMID:31803701|PMID:31989427|PMID:31998953|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32398039|PMID:32401353|PMID:32441320|PMID:32447396|PMID:32461654|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:32909274|PMID:33079202|PMID:33223529|PMID:33331265|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34120219|PMID:34328662|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34880353|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35298548|PMID:35358658|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9715731|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:3529 congenital myopathy 1A ISO RGD:737570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868|PMID:28492532 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:630 genetic disease ISO RGD:737570 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12105243|PMID:12124996|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14679589|PMID:14727057|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15458961|PMID:15643295|PMID:15717684|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16100353|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16439335|PMID:16439437|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16802374|PMID:16889173|PMID:17276496|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17665427|PMID:18097735|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19531756|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19863562|PMID:19929404|PMID:19934082|PMID:19934083|PMID:19934105|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20525738|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20688806|PMID:20721559|PMID:20890251|PMID:20981092|PMID:21153919|PMID:21228398|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22261745|PMID:22467954|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22906030|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23031807|PMID:23038988|PMID:23291246|PMID:23302539|PMID:23325590|PMID:23334425|PMID:23400211|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23524442|PMID:23588594|PMID:23592051|PMID:23716950|PMID:23844200|PMID:23847694|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24251727|PMID:24289199|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24433404|PMID:24469716|PMID:24797171|PMID:24929125|PMID:24965843|PMID:25073670|PMID:25261100|PMID:25393764|PMID:25615955|PMID:25648235|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25793047|PMID:25810876|PMID:25821352|PMID:25866490|PMID:25959027|PMID:26005881|PMID:26027984|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26690517|PMID:26843738|PMID:27030597|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27535533|PMID:27621632|PMID:27659338|PMID:27884173|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28678379|PMID:28927886|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29178647|PMID:29314707|PMID:29526930|PMID:29543225|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:29927949|PMID:30171907|PMID:30407166|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30915208|PMID:30996171|PMID:31204589|PMID:31264586|PMID:31411330|PMID:31531243|PMID:31620089|PMID:31693653|PMID:31989427|PMID:32312770|PMID:32401353|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:32909274|PMID:33079202|PMID:33223529|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35358658|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9527614|PMID:9668175|PMID:9715731|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:6543 acne ISO RGD:737570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:850 lung disease ISO RGD:737570 D RGD:9068941 20200609 RGD associated with Mediterranean fever PMID:12746942|REF_RGD_ID:5129189 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:8553 pyoderma gangrenosum ISO RGD:737570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9000727 Syncope ISO RGD:737570 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Syncope PMID:10090880|PMID:10611954|PMID:10612841|PMID:10787450|PMID:10842288|PMID:11464238|PMID:11977178|PMID:15018633|PMID:15024744|PMID:16730661|PMID:17489852|PMID:19253030|PMID:19934083|PMID:20041150|PMID:20534143|PMID:21153919|PMID:21246368|PMID:21413889|PMID:21978701|PMID:22614345|PMID:22903357|PMID:23505242|PMID:23588594|PMID:23907647|PMID:23981758|PMID:24033266|PMID:24251727|PMID:24469716|PMID:24929125|PMID:25615955|PMID:25741868|PMID:26078663|PMID:28483595|PMID:28492532|PMID:29047407|PMID:29543225|PMID:29599418|PMID:31989427|PMID:32312770|PMID:33733382|PMID:34426522|PMID:35098403|PMID:9668175 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9000972 Fever ISO RGD:737570 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Episodic fever PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:27030597|PMID:28492532|PMID:30171907|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9003816 Macrocephaly ISO RGD:737570 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:27030597|PMID:28492532|PMID:30171907|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9003984 Hyperpigmentation ISO RGD:737570 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperpigmentation PMID:25741868 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9005603 Muscle Hypotonia ISO RGD:737570 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:27030597|PMID:28492532|PMID:30171907|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.M694V,E148Q,M680I(human) PMID:20518828|REF_RGD_ID:11531118 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9007619 Familial Mediterranean Fever, Autosomal Dominant ISO RGD:737570 D RGD:7240710 20180130 OMIM 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9007619 Familial Mediterranean Fever, Autosomal Dominant ISO RGD:737570 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: FMF, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant PMID:10024914|PMID:10090880|PMID:10234504|PMID:10364520|PMID:10447272|PMID:10611954|PMID:10612841|PMID:10737992|PMID:10737995|PMID:10787449|PMID:10787450|PMID:10842288|PMID:10852276|PMID:10854115|PMID:10879615|PMID:10905662|PMID:10980540|PMID:11017802|PMID:11175300|PMID:11242116|PMID:11464238|PMID:11464248|PMID:11468188|PMID:11470495|PMID:11588211|PMID:11903360|PMID:11938447|PMID:11977178|PMID:12064853|PMID:12105243|PMID:12180071|PMID:12401847|PMID:12687559|PMID:12908875|PMID:12929299|PMID:12955725|PMID:14578331|PMID:14578333|PMID:14679589|PMID:14727057|PMID:14985395|PMID:15018633|PMID:15020340|PMID:15024140|PMID:15024744|PMID:15146467|PMID:15168590|PMID:15300846|PMID:15458961|PMID:15475974|PMID:15502081|PMID:15643295|PMID:15717684|PMID:15745878|PMID:15805719|PMID:15942916|PMID:15951859|PMID:16179998|PMID:16255051|PMID:16378925|PMID:16403826|PMID:16439335|PMID:16439437|PMID:16523438|PMID:16614989|PMID:16627024|PMID:16730661|PMID:16785446|PMID:16889173|PMID:17276496|PMID:17331080|PMID:17489852|PMID:17566872|PMID:17576681|PMID:17665427|PMID:17665448|PMID:17934081|PMID:17938136|PMID:18097735|PMID:18307385|PMID:18328141|PMID:18353061|PMID:18386244|PMID:18409191|PMID:18496034|PMID:18609258|PMID:18662100|PMID:18691160|PMID:19026119|PMID:19151977|PMID:19193696|PMID:19253030|PMID:19302049|PMID:19449169|PMID:19466506|PMID:19479870|PMID:19531756|PMID:19729025|PMID:19777236|PMID:19784369|PMID:19786432|PMID:19790133|PMID:19820229|PMID:19845843|PMID:19863562|PMID:19929404|PMID:19934083|PMID:19967574|PMID:20008920|PMID:20008924|PMID:20041150|PMID:20044784|PMID:20051664|PMID:20165923|PMID:20177433|PMID:20301405|PMID:20437121|PMID:20483145|PMID:20485448|PMID:20534143|PMID:20602240|PMID:20645115|PMID:20669279|PMID:20721559|PMID:20890251|PMID:21153919|PMID:21246368|PMID:21290976|PMID:21358337|PMID:21413889|PMID:21520333|PMID:21598804|PMID:21598806|PMID:21600797|PMID:21623663|PMID:21727933|PMID:21978701|PMID:21995303|PMID:22019805|PMID:22037353|PMID:22190688|PMID:22261745|PMID:22281876|PMID:22451026|PMID:22505824|PMID:22532615|PMID:22566169|PMID:22580583|PMID:22614345|PMID:22661645|PMID:22722202|PMID:22810696|PMID:22903357|PMID:22934972|PMID:22975760|PMID:22995991|PMID:23010357|PMID:23031807|PMID:23038988|PMID:23137073|PMID:23155201|PMID:23206577|PMID:23280696|PMID:23334425|PMID:23400211|PMID:23463692|PMID:23505238|PMID:23505242|PMID:23588594|PMID:23592051|PMID:23633568|PMID:23716950|PMID:23800337|PMID:23844200|PMID:23862117|PMID:23907647|PMID:23973724|PMID:23981758|PMID:24033266|PMID:24071932|PMID:24082139|PMID:24117178|PMID:24123366|PMID:24158885|PMID:24233262|PMID:24251727|PMID:24263150|PMID:24289199|PMID:24301775|PMID:24318677|PMID:24369413|PMID:24381109|PMID:24433404|PMID:24469716|PMID:24630722|PMID:24702757|PMID:24760114|PMID:24797171|PMID:24862656|PMID:24929125|PMID:24965843|PMID:25006247|PMID:25036384|PMID:25073670|PMID:25088882|PMID:25261100|PMID:25286988|PMID:25332561|PMID:25393764|PMID:25615955|PMID:25626331|PMID:25648235|PMID:25703702|PMID:25708585|PMID:25741868|PMID:25760918|PMID:25793047|PMID:25810876|PMID:25821352|PMID:25866490|PMID:25959027|PMID:25974247|PMID:26003477|PMID:26005881|PMID:26027984|PMID:26028444|PMID:26078663|PMID:26131005|PMID:26215181|PMID:26247045|PMID:26299986|PMID:26351556|PMID:26360812|PMID:26399837|PMID:26413094|PMID:26467025|PMID:26510601|PMID:26537665|PMID:26574972|PMID:26585190|PMID:26620106|PMID:26690517|PMID:26722138|PMID:26759267|PMID:26843738|PMID:2703059|PMID:27030597|PMID:27310525|PMID:27364639|PMID:27457448|PMID:27473114|PMID:27513391|PMID:27621632|PMID:27659338|PMID:27872624|PMID:27884173|PMID:27956278|PMID:27980538|PMID:27994174|PMID:28001092|PMID:28211254|PMID:28289585|PMID:28302131|PMID:28340799|PMID:28386255|PMID:28421071|PMID:28483595|PMID:28492532|PMID:28573371|PMID:28590056|PMID:28597968|PMID:28678379|PMID:28814775|PMID:28927886|PMID:28943464|PMID:29040788|PMID:29047407|PMID:29080837|PMID:29148036|PMID:29159471|PMID:29178647|PMID:29260407|PMID:29314707|PMID:29363386|PMID:29379228 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9007619 Familial Mediterranean Fever, Autosomal Dominant ISO RGD:737570 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: FMF, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant PMID:29543225|PMID:29579081|PMID:29599418|PMID:29735907|PMID:29756710|PMID:29808155|PMID:30171907|PMID:30355575|PMID:30409984|PMID:30476289|PMID:30487145|PMID:30513227|PMID:30546872|PMID:30686512|PMID:30698071|PMID:30783801|PMID:30887796|PMID:30915208|PMID:31088470|PMID:31204589|PMID:31329540|PMID:31411330|PMID:31512232|PMID:31531243|PMID:31598713|PMID:31646357|PMID:31693653|PMID:31803701|PMID:31989427|PMID:32082075|PMID:32199921|PMID:32312770|PMID:32359823|PMID:32398039|PMID:32401353|PMID:32441320|PMID:32447396|PMID:32461654|PMID:32716837|PMID:32741030|PMID:32818295|PMID:32824452|PMID:32853466|PMID:33079202|PMID:33223529|PMID:33440462|PMID:33497256|PMID:33560333|PMID:33715276|PMID:33726481|PMID:33733382|PMID:33738724|PMID:33747591|PMID:33813620|PMID:34120219|PMID:34328662|PMID:34426522|PMID:34606655|PMID:34612144|PMID:34665572|PMID:34739572|PMID:34880353|PMID:34918114|PMID:35061158|PMID:35098403|PMID:35156637|PMID:35190906|PMID:35358658|PMID:35490273|PMID:35780723|PMID:5458961|PMID:7677151|PMID:9288094|PMID:9288758|PMID:9336425|PMID:9527614|PMID:9536098|PMID:9668175|PMID:9715731|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9008 psoriatic arthritis ISO RGD:737570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17408446 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9008086 Developmental Disabilities ISO RGD:737570 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10364520|PMID:10787449|PMID:10879615|PMID:11464248|PMID:11938447|PMID:11977178|PMID:15643295|PMID:15942916|PMID:16785446|PMID:16889173|PMID:18353061|PMID:19790133|PMID:20008920|PMID:21290976|PMID:21600797|PMID:22037353|PMID:23334425|PMID:23907647|PMID:24318677|PMID:24369413|PMID:25741868|PMID:27030597|PMID:28492532|PMID:30171907|PMID:33223529|PMID:9288094|PMID:9288758|PMID:9781020 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.M694V,E148Q(human) PMID:22351163|REF_RGD_ID:11531114 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9538 multiple myeloma susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.E148Q,M694V(human) PMID:25202401|REF_RGD_ID:11531123 8770821 Mefv MEFV innate immunity regulator, pyrin gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:737570 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.E148Q,M680I(human) PMID:22942567|REF_RGD_ID:11531121 8770844 Tpra1 transmembrane protein adipocyte associated 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1354338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8770844 Tpra1 transmembrane protein adipocyte associated 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1354338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8770844 Tpra1 transmembrane protein adipocyte associated 1 gene DOID:9270 alkaptonuria ISO RGD:1354338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8770866 Armc12 armadillo repeat containing 12 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1314376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8770866 Armc12 armadillo repeat containing 12 gene DOID:10283 prostate cancer ISO RGD:1314376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8770866 Armc12 armadillo repeat containing 12 gene DOID:630 genetic disease ISO RGD:1314376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770866 Armc12 armadillo repeat containing 12 gene DOID:9007862 Spermatogenic Failure 90 ISO RGD:1314376 D RGD:7240710 20240320 OMIM 8770878 Bpifa1 BPI fold containing family A member 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:736029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15513904 8770878 Bpifa1 BPI fold containing family A member 1 gene DOID:10754 otitis media ISO RGD:736030 D RGD:9068941 20220825 MouseDO OMIM:166760 8770878 Bpifa1 BPI fold containing family A member 1 gene DOID:630 genetic disease ISO RGD:736029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770878 Bpifa1 BPI fold containing family A member 1 gene DOID:9005372 Inflammation IMP D RGD:11554178|PMID:20949060 20161020 RGD 8770891 Ak9 adenylate kinase 9 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1354002 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8770891 Ak9 adenylate kinase 9 gene DOID:1572 normal pressure hydrocephalus ISO RGD:2301662 D RGD:9068941 20240314 MouseDO OMIM:236690 8770891 Ak9 adenylate kinase 9 gene DOID:630 genetic disease ISO RGD:1354002 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:37713809 8770891 Ak9 adenylate kinase 9 gene DOID:9006023 Spermatogenic Failure 89 ISO RGD:1354002 D RGD:7240710 20240214 OMIM 8770891 Ak9 adenylate kinase 9 gene DOID:9006023 Spermatogenic Failure 89 ISO RGD:1354002 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 89 PMID:37713809 8770946 Psme4 proteasome activator subunit 4 gene DOID:0050545 visceral heterotaxy ISO RGD:1557625 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8770946 Psme4 proteasome activator subunit 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8770946 Psme4 proteasome activator subunit 4 gene DOID:630 genetic disease ISO RGD:1345096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8770997 Nav2 neuron navigator 2 gene DOID:0060224 atrial fibrillation ISO RGD:1320655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8770997 Nav2 neuron navigator 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1320655 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8770997 Nav2 neuron navigator 2 gene DOID:1059 intellectual disability ISO RGD:1320655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8770997 Nav2 neuron navigator 2 gene DOID:630 genetic disease ISO RGD:1320655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8771046 Gnai3 G protein subunit alpha i3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:731003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8771046 Gnai3 G protein subunit alpha i3 gene DOID:10763 hypertension treatment ISO RGD:2714 D RGD:9068941 20200609 RGD PMID:15106810|REF_RGD_ID:13508592 8771046 Gnai3 G protein subunit alpha i3 gene DOID:10914 amnestic disorder ISO RGD:731003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11350863 8771046 Gnai3 G protein subunit alpha i3 gene DOID:12849 autistic disorder ISO RGD:731003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8771046 Gnai3 G protein subunit alpha i3 gene DOID:630 genetic disease ISO RGD:731003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8771046 Gnai3 G protein subunit alpha i3 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:731003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8771046 Gnai3 G protein subunit alpha i3 gene DOID:9002492 Auriculocondylar Syndrome 1 ISO RGD:731003 D RGD:7240710 20180130 OMIM 8771046 Gnai3 G protein subunit alpha i3 gene DOID:9002492 Auriculocondylar Syndrome 1 ISO RGD:731003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 1 PMID:11102934|PMID:22560091|PMID:23315542|PMID:25026904|PMID:25741868 8771046 Gnai3 G protein subunit alpha i3 gene DOID:9004009 Reperfusion Injury ISO RGD:2714 D RGD:9068941 20200609 RGD PMID:11367746|REF_RGD_ID:13513922 8771059 Agtrap angiotensin II receptor associated protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1350151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8771059 Agtrap angiotensin II receptor associated protein gene DOID:0060158 acquired metabolic disease ISO RGD:1552153 D RGD:9068941 20220825 MouseDO 8771059 Agtrap angiotensin II receptor associated protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350151 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8771059 Agtrap angiotensin II receptor associated protein gene DOID:10763 hypertension ISO RGD:1359346 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18725581|REF_RGD_ID:2314351 8771059 Agtrap angiotensin II receptor associated protein gene DOID:630 genetic disease ISO RGD:1350151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771059 Agtrap angiotensin II receptor associated protein gene DOID:9003936 Cardiomegaly ISO RGD:1359346 D RGD:9068941 20200609 RGD PMID:18725581|REF_RGD_ID:2314351 8771059 Agtrap angiotensin II receptor associated protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1350151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs7963551) (human) PMID:26629180|REF_RGD_ID:151660337 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:0050904 salivary gland carcinoma sexual_dimorphism ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP:intron: (rs3748522) (human) PMID:26035306|REF_RGD_ID:151361290 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:10155 intestinal cancer disease_progression ISO RGD:10166 D RGD:9068941 20220225 RGD PMID:27984746|REF_RGD_ID:151361160 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:1324 lung cancer susceptibility ISO RGD:1312725 D RGD:9068941 20220304 RGD DNA:SNP,haplotype: PMID:18449888|REF_RGD_ID:151660351 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:1324 lung cancer susceptibility ISO RGD:1312725 D RGD:9068941 20220310 RGD DNA:SNP: (rs4766394) (human) PMID:22382497|REF_RGD_ID:151660503 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:1749 squamous cell carcinoma ISO RGD:1312725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26013599 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:219 colon cancer susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNPs:3'utr: (rs1051669, rs11571475) (human) PMID:26735576|REF_RGD_ID:151361212 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:3907 lung squamous cell carcinoma ameliorates ISO RGD:1312726 D RGD:9068941 20220303 RGD PMID:28415565|REF_RGD_ID:151660334 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP: (rs6489769) (human) PMID:22585858|REF_RGD_ID:151660345 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220310 RGD DNA:SNPs,haplotype:multiple PMID:32401173|REF_RGD_ID:151660355 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:3948 adrenocortical carcinoma ISO RGD:1312725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:4531 mucoepidermoid carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP:intron: (rs3748522) (human) PMID:26035306|REF_RGD_ID:151361290 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs7963551) (human) PMID:26629180|REF_RGD_ID:151660337 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:5409 lung small cell carcinoma treatment ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNP: (rs10774474)(human) PMID:27531263|REF_RGD_ID:151660339 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:630 genetic disease ISO RGD:1312725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:684 hepatocellular carcinoma onset ISO RGD:1312725 D RGD:9068941 20220303 RGD mRNA,protein:increased expression:liver (human) PMID:31719794|REF_RGD_ID:151361207 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD associated with hepatitis B;DNA:SNP:3'utr: (rs7963551) (human) PMID:24729511|REF_RGD_ID:151361199 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:1312725 D RGD:9068941 20220225 RGD associated with colorectal cancer; DNA:SNP:3'utr: (rs7963551) (human) PMID:29245274|REF_RGD_ID:151361161 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:9005172 Lung Neoplasms ISO RGD:1312725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26013599 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1312725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:9256 colorectal cancer onset ISO RGD:1312725 D RGD:9068941 20220225 RGD DNA:SNP,haplotypes:3'utr: (rs1051669) (human) PMID:29245274|REF_RGD_ID:151361161 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:9256 colorectal cancer susceptibility ISO RGD:1312725 D RGD:9068941 20220303 RGD DNA:SNPs:3'utr: (rs7963551, rs11226) (human) PMID:26735576|REF_RGD_ID:151361212 8771073 Rad52 RAD52 homolog, DNA repair protein gene DOID:9261 nasopharynx carcinoma severity ISO RGD:1312725 D RGD:9068941 20220303 RGD protein:increased expression:nasopharynx (human) PMID:25026830|REF_RGD_ID:151361208 8771102 Dtd2 D-aminoacyl-tRNA deacylase 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 8771102 Dtd2 D-aminoacyl-tRNA deacylase 2 gene DOID:630 genetic disease ISO RGD:1319312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771102 Dtd2 D-aminoacyl-tRNA deacylase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319312 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8771120 CUNH18orf32 chromosome unknown C18orf32 homolog gene DOID:1059 intellectual disability ISO RGD:1626573 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8771120 CUNH18orf32 chromosome unknown C18orf32 homolog gene DOID:630 genetic disease ISO RGD:1626573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771120 CUNH18orf32 chromosome unknown C18orf32 homolog gene DOID:9003554 Glycosylphosphatidylinositol Biosynthesis Defect 25 ISO RGD:1626573 D RGD:7240710 20220810 OMIM 8771120 CUNH18orf32 chromosome unknown C18orf32 homolog gene DOID:9003554 Glycosylphosphatidylinositol Biosynthesis Defect 25 ISO RGD:1626573 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 25 PMID:28492532|PMID:35107634 8771145 Ccdc150 coiled-coil domain containing 150 gene DOID:630 genetic disease ISO RGD:1606406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771145 Ccdc150 coiled-coil domain containing 150 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8771190 Rad17 RAD17 checkpoint clamp loader component gene DOID:630 genetic disease ISO RGD:1319895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771190 Rad17 RAD17 checkpoint clamp loader component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8771225 Dcstamp dendrocyte expressed seven transmembrane protein gene DOID:0111590 Cohen syndrome ISO RGD:1321334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8771225 Dcstamp dendrocyte expressed seven transmembrane protein gene DOID:289 endometriosis ISO RGD:1321334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8771225 Dcstamp dendrocyte expressed seven transmembrane protein gene DOID:5408 Paget's disease of bone ISO RGD:1321334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 8771225 Dcstamp dendrocyte expressed seven transmembrane protein gene DOID:630 genetic disease ISO RGD:1321334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771225 Dcstamp dendrocyte expressed seven transmembrane protein gene DOID:670 amphetamine abuse ISO RGD:1321334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8771236 Lkaaear1 LKAAEAR motif containing 1 gene DOID:630 genetic disease ISO RGD:1604727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771244 Tbc1d20 TBC1 domain family member 20 gene DOID:0060237 Warburg micro syndrome ISO RGD:1346411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8771244 Tbc1d20 TBC1 domain family member 20 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 8771244 Tbc1d20 TBC1 domain family member 20 gene DOID:0110719 Warburg micro syndrome 4 ISO RGD:1346411 D RGD:7240710 20180130 OMIM 8771244 Tbc1d20 TBC1 domain family member 20 gene DOID:0110719 Warburg micro syndrome 4 ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 4 PMID:24239381|PMID:25741868|PMID:32740904 8771244 Tbc1d20 TBC1 domain family member 20 gene DOID:630 genetic disease ISO RGD:1346411 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8771244 Tbc1d20 TBC1 domain family member 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8771244 Tbc1d20 TBC1 domain family member 20 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1346411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:1059 intellectual disability ISO RGD:1343702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1343702 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34624384 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:2600 laryngeal carcinoma disease_progression ISO RGD:1343702 D RGD:9068941 20220506 RGD protein:increased expression:larynx (human) PMID:16494043|REF_RGD_ID:152025548 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:305 carcinoma ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1343702 D RGD:9068941 20230128 RGD mRNA:increased expression:kidney: PMID:29218250|REF_RGD_ID:155804290 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:557 kidney disease ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22880115 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:630 genetic disease ISO RGD:1343702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1343702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:9002297 OCULOMOTOR-ABDUCENS SYNKINESIS ISO RGD:1343702 D RGD:7240710 20210414 OMIM 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:9002297 OCULOMOTOR-ABDUCENS SYNKINESIS ISO RGD:1343702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculomotor-abducens synkinesis PMID:31211835 8771272 Ackr3 atypical chemokine receptor 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 8771278 Sh3bgr SH3 domain binding glutamate rich protein gene DOID:12849 autistic disorder ISO RGD:1346069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8771278 Sh3bgr SH3 domain binding glutamate rich protein gene DOID:630 genetic disease ISO RGD:1346069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771298 Syngr1 synaptogyrin 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8771298 Syngr1 synaptogyrin 1 gene DOID:10283 prostate cancer ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8771298 Syngr1 synaptogyrin 1 gene DOID:5419 schizophrenia ISO RGD:736639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 8771298 Syngr1 synaptogyrin 1 gene DOID:630 genetic disease ISO RGD:736639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771298 Syngr1 synaptogyrin 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 8771298 Syngr1 synaptogyrin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8771339 Tnfaip2 TNF alpha induced protein 2 gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1312234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 8771339 Tnfaip2 TNF alpha induced protein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8771339 Tnfaip2 TNF alpha induced protein 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1312235 D RGD:9068941 20231221 MouseDO 8771339 Tnfaip2 TNF alpha induced protein 2 gene DOID:630 genetic disease ISO RGD:1312234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771339 Tnfaip2 TNF alpha induced protein 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1312234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8771359 Zfp42 ZFP42 zinc finger protein gene DOID:12849 autistic disorder ISO RGD:1606971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8771359 Zfp42 ZFP42 zinc finger protein gene DOID:2229 factor XI deficiency ISO RGD:1606971 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 8771359 Zfp42 ZFP42 zinc finger protein gene DOID:630 genetic disease ISO RGD:1606971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771359 Zfp42 ZFP42 zinc finger protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8771363 Stmn3 stathmin 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8771363 Stmn3 stathmin 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:69018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8771363 Stmn3 stathmin 3 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:69018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8771363 Stmn3 stathmin 3 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8771363 Stmn3 stathmin 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:69018 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8771363 Stmn3 stathmin 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8771363 Stmn3 stathmin 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:69018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8771363 Stmn3 stathmin 3 gene DOID:630 genetic disease ISO RGD:69018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771363 Stmn3 stathmin 3 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:69018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8771372 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 8771372 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0080600 COVID-19 ISO RGD:1314685 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8771372 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8771372 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0112089 nuclear type mitochondrial complex I deficiency 11 ISO RGD:1314685 D RGD:7240710 20190315 OMIM 8771372 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:0112089 nuclear type mitochondrial complex I deficiency 11 ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 PMID:17557076|PMID:21931170|PMID:25741868|PMID:28492532 8771372 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8771372 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:1314685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8771372 Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 gene DOID:9256 colorectal cancer ISO RGD:1314685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8771385 Cenpl centromere protein L gene DOID:1540 parathyroid carcinoma ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8771385 Cenpl centromere protein L gene DOID:3755 antithrombin III deficiency ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8771385 Cenpl centromere protein L gene DOID:630 genetic disease ISO RGD:1605310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771385 Cenpl centromere protein L gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8771385 Cenpl centromere protein L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8771385 Cenpl centromere protein L gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 8771385 Cenpl centromere protein L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8771395 Frmd8 FERM domain containing 8 gene DOID:1059 intellectual disability ISO RGD:1602672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8771395 Frmd8 FERM domain containing 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8771395 Frmd8 FERM domain containing 8 gene DOID:2746 glycogen storage disease V ISO RGD:1602672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8771395 Frmd8 FERM domain containing 8 gene DOID:3070 high grade glioma ISO RGD:1602672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8771395 Frmd8 FERM domain containing 8 gene DOID:630 genetic disease ISO RGD:1602672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771395 Frmd8 FERM domain containing 8 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602672 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8771395 Frmd8 FERM domain containing 8 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8771462 Tasl TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8771462 Tasl TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1347440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 8771462 Tasl TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1347440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 8771462 Tasl TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:12849 autistic disorder ISO RGD:1347440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8771462 Tasl TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8771462 Tasl TLR adaptor interacting with endolysosomal SLC15A4 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1347440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8771470 Tkfc triokinase and FMN cyclase gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1607064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8771470 Tkfc triokinase and FMN cyclase gene DOID:1059 intellectual disability ISO RGD:1607064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8771470 Tkfc triokinase and FMN cyclase gene DOID:630 genetic disease ISO RGD:1607064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771470 Tkfc triokinase and FMN cyclase gene DOID:655 inherited metabolic disorder ISO RGD:1607064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn errors of metabolism PMID:25741868|PMID:32004446 8771470 Tkfc triokinase and FMN cyclase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8771470 Tkfc triokinase and FMN cyclase gene DOID:9001881 TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME ISO RGD:1607064 D RGD:7240710 20211103 OMIM 8771470 Tkfc triokinase and FMN cyclase gene DOID:9001881 TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME ISO RGD:1607064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome PMID:25741868|PMID:32004446 8771502 Lrch4 leucine rich repeats and calponin homology domain containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8771502 Lrch4 leucine rich repeats and calponin homology domain containing 4 gene DOID:630 genetic disease ISO RGD:1314592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771529 Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1606337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8771529 Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8771529 Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:4621 holoprosencephaly ISO RGD:1606337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8771529 Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 gene DOID:630 genetic disease ISO RGD:1606337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771540 Rfx3 regulatory factor X3 gene DOID:0050545 visceral heterotaxy ISO RGD:1317169 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8771540 Rfx3 regulatory factor X3 gene DOID:0060041 autism spectrum disorder ISO RGD:1317168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8771540 Rfx3 regulatory factor X3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1317168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8771540 Rfx3 regulatory factor X3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1317168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868 8771540 Rfx3 regulatory factor X3 gene DOID:37 skin disease ISO RGD:1317168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8771540 Rfx3 regulatory factor X3 gene DOID:630 genetic disease ISO RGD:1317168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771540 Rfx3 regulatory factor X3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8771540 Rfx3 regulatory factor X3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1317168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8771540 Rfx3 regulatory factor X3 gene DOID:9008582 Developmental Disease ISO RGD:1317168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8771587 Atp6v1c1 ATPase H+ transporting V1 subunit C1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1322350 D RGD:9068941 20200609 RGD PMID:26984774|REF_RGD_ID:14700648 8771587 Atp6v1c1 ATPase H+ transporting V1 subunit C1 gene DOID:0111590 Cohen syndrome ISO RGD:1322350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8771587 Atp6v1c1 ATPase H+ transporting V1 subunit C1 gene DOID:5517 stomach carcinoma ISO RGD:1322350 D RGD:9068941 20200609 RGD PMID:23722107|REF_RGD_ID:14700649 8771587 Atp6v1c1 ATPase H+ transporting V1 subunit C1 gene DOID:630 genetic disease ISO RGD:1322350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771587 Atp6v1c1 ATPase H+ transporting V1 subunit C1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322351 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:24155661|REF_RGD_ID:14700647 8771607 Pgam1 phosphoglycerate mutase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8771607 Pgam1 phosphoglycerate mutase 1 gene DOID:299 adenocarcinoma ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8771607 Pgam1 phosphoglycerate mutase 1 gene DOID:305 carcinoma ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8771607 Pgam1 phosphoglycerate mutase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 8771607 Pgam1 phosphoglycerate mutase 1 gene DOID:630 genetic disease ISO RGD:737211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771607 Pgam1 phosphoglycerate mutase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8771607 Pgam1 phosphoglycerate mutase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8771607 Pgam1 phosphoglycerate mutase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8771607 Pgam1 phosphoglycerate mutase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:737211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8771618 Rab18 RAB18, member RAS oncogene family gene DOID:0060237 Warburg micro syndrome ISO RGD:1318941 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome PMID:25741868|PMID:28492532 8771618 Rab18 RAB18, member RAS oncogene family gene DOID:0110718 Warburg micro syndrome 3 ISO RGD:1318941 D RGD:7240710 20180130 OMIM 8771618 Rab18 RAB18, member RAS oncogene family gene DOID:0110718 Warburg micro syndrome 3 ISO RGD:1318941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 3 PMID:21473985|PMID:23420520|PMID:25741868|PMID:28492532|PMID:29300443 8771618 Rab18 RAB18, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1318941 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8771651 Fgf23 fibroblast growth factor 23 gene DOID:0050336 hypophosphatemia ISO RGD:1351456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 8771651 Fgf23 fibroblast growth factor 23 gene DOID:0050459 hyperphosphatemia ISO RGD:1351456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 8771651 Fgf23 fibroblast growth factor 23 gene DOID:0050589 inflammatory bowel disease disease_progression ISO RGD:1351456 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22551310|REF_RGD_ID:10044237 8771651 Fgf23 fibroblast growth factor 23 gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:1351456 D RGD:7240710 20180130 OMIM 8771651 Fgf23 fibroblast growth factor 23 gene DOID:0050948 autosomal dominant hypophosphatemic rickets ISO RGD:1351456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant PMID:11062477|PMID:11409890|PMID:11737582|PMID:11805436|PMID:12050201|PMID:12130585|PMID:12711740|PMID:12851820|PMID:12874285|PMID:1353055|PMID:15182416|PMID:15590700|PMID:15628294|PMID:15836777|PMID:15885032|PMID:16436388|PMID:17227222|PMID:17452648|PMID:17623664|PMID:17992255|PMID:18682534|PMID:18982401|PMID:21880793|PMID:22419710|PMID:24033266|PMID:25445451|PMID:25741868|PMID:26186302|PMID:26467025|PMID:28492532|PMID:31486862|PMID:32415663|PMID:35738466|PMID:5173181|PMID:9024275 8771651 Fgf23 fibroblast growth factor 23 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8771651 Fgf23 fibroblast growth factor 23 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1351456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8771651 Fgf23 fibroblast growth factor 23 gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome PMID:15590700|PMID:15687325|PMID:18682534|PMID:19837926|PMID:24033266|PMID:25326637|PMID:29389098 8771651 Fgf23 fibroblast growth factor 23 gene DOID:182 calcinosis ISO RGD:1351456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 8771651 Fgf23 fibroblast growth factor 23 gene DOID:4676 uremia ISO RGD:620178 D RGD:9068941 20200609 RGD PMID:19339809|REF_RGD_ID:10044236 8771651 Fgf23 fibroblast growth factor 23 gene DOID:630 genetic disease ISO RGD:1351456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8771651 Fgf23 fibroblast growth factor 23 gene DOID:784 chronic kidney disease ISO RGD:620178 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20016468|REF_RGD_ID:10044210 8771651 Fgf23 fibroblast growth factor 23 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1351456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:11062477|PMID:11409890|PMID:11737582|PMID:11805436|PMID:12050201|PMID:12130585|PMID:12711740|PMID:12851820|PMID:12874285|PMID:15182416|PMID:15590700|PMID:15628294|PMID:15836777|PMID:15885032|PMID:16436388|PMID:17227222|PMID:17452648|PMID:17623664|PMID:17992255|PMID:18682534|PMID:21880793|PMID:25741868|PMID:26186302|PMID:28492532|PMID:35738466 8771651 Fgf23 fibroblast growth factor 23 gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:620178 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:23967103|REF_RGD_ID:10044235 8771651 Fgf23 fibroblast growth factor 23 gene DOID:9002644 Premature Aging ISO RGD:734317 D RGD:9068941 20200609 RGD PMID:18729070|REF_RGD_ID:10044240 8771651 Fgf23 fibroblast growth factor 23 gene DOID:9002644 Premature Aging ISO RGD:734317 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19500727|REF_RGD_ID:10045876 8771651 Fgf23 fibroblast growth factor 23 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1351456 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:24101107|REF_RGD_ID:10044241 8771651 Fgf23 fibroblast growth factor 23 gene DOID:9007069 Hyperphosphatemic Familial Tumoral Calcinosis 2 ISO RGD:1351456 D RGD:7240710 20190508 OMIM 8771651 Fgf23 fibroblast growth factor 23 gene DOID:9007069 Hyperphosphatemic Familial Tumoral Calcinosis 2 ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2 PMID:11062477|PMID:15590700|PMID:15687325|PMID:16030159|PMID:16151858|PMID:18682534|PMID:18982401|PMID:19837926|PMID:22419710|PMID:24033266|PMID:25445451|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29389098 8771651 Fgf23 fibroblast growth factor 23 gene DOID:9007181 Osteoporotic Fractures ISO RGD:1351456 D RGD:9068941 20200609 RGD PMID:20928885|REF_RGD_ID:10044238 8771651 Fgf23 fibroblast growth factor 23 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1351456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:15590700|PMID:15687325|PMID:18682534|PMID:19837926|PMID:24033266|PMID:25378588|PMID:25741868|PMID:29389098 8771669 Gadd45a growth arrest and DNA damage inducible alpha gene DOID:1059 intellectual disability ISO RGD:733803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8771669 Gadd45a growth arrest and DNA damage inducible alpha gene DOID:1793 pancreatic cancer ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19003803 8771669 Gadd45a growth arrest and DNA damage inducible alpha gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 8771669 Gadd45a growth arrest and DNA damage inducible alpha gene DOID:630 genetic disease ISO RGD:733803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771669 Gadd45a growth arrest and DNA damage inducible alpha gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8771669 Gadd45a growth arrest and DNA damage inducible alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15837757 8771669 Gadd45a growth arrest and DNA damage inducible alpha gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:736689 D RGD:9068941 20200609 RGD PMID:19124556|REF_RGD_ID:5509080 8771669 Gadd45a growth arrest and DNA damage inducible alpha gene DOID:9001341 Chloracne ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8771669 Gadd45a growth arrest and DNA damage inducible alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19190346 8771669 Gadd45a growth arrest and DNA damage inducible alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17474084 8771669 Gadd45a growth arrest and DNA damage inducible alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 8771669 Gadd45a growth arrest and DNA damage inducible alpha gene DOID:9074 systemic lupus erythematosus ISO RGD:736689 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8771680 Tas2r38 taste 2 receptor member 38 gene DOID:0080690 RASopathy ISO RGD:1346793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8771680 Tas2r38 taste 2 receptor member 38 gene DOID:1574 alcohol use disorder ISO RGD:1346793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17250611 8771680 Tas2r38 taste 2 receptor member 38 gene DOID:630 genetic disease ISO RGD:1346793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771680 Tas2r38 taste 2 receptor member 38 gene DOID:9004935 Thiourea Tasting ISO RGD:1346793 D RGD:7240710 20180130 OMIM 8771680 Tas2r38 taste 2 receptor member 38 gene DOID:9004935 Thiourea Tasting ISO RGD:1346793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phenylthiocarbamide tasting PMID:12595690|PMID:28492532 8771680 Tas2r38 taste 2 receptor member 38 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1346793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 8771683 Rbm39 RNA binding motif protein 39 gene DOID:630 genetic disease ISO RGD:1320763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771708 Usp44 ubiquitin specific peptidase 44 gene DOID:630 genetic disease ISO RGD:1317864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771723 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0060019 coronin-1A deficiency ISO RGD:1345683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8771723 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8771723 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1345683 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8771723 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1345683 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8771723 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1345683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8771723 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1345683 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8771723 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1345683 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8771723 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:12849 autistic disorder ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8771723 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:5419 schizophrenia ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8771723 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:630 genetic disease ISO RGD:1345683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771723 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8771723 Kctd13 potassium channel tetramerization domain containing 13 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1345683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8771733 Snca synuclein alpha gene DOID:0050890 synucleinopathy ISO RGD:733186 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34332006 8771733 Snca synuclein alpha gene DOID:0060367 Parkinson's disease 1 ISO RGD:733186 D RGD:7240710 20180130 OMIM 8771733 Snca synuclein alpha gene DOID:0060367 Parkinson's disease 1 ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 PMID:10417297|PMID:11261505|PMID:11376188|PMID:12062037|PMID:14593171|PMID:14755720|PMID:15144854|PMID:15451224|PMID:15451225|PMID:16358335|PMID:17251522|PMID:17489854|PMID:17625105|PMID:18195271|PMID:18704525|PMID:18852445|PMID:18852448|PMID:18852449|PMID:19632874|PMID:20340137|PMID:20437567|PMID:21252228|PMID:21559878|PMID:23404372|PMID:23427326|PMID:23457019|PMID:23526723|PMID:24047453|PMID:24158904|PMID:24158909|PMID:24313877|PMID:24315198|PMID:24728187|PMID:24746362|PMID:24936070|PMID:24984882|PMID:25268550|PMID:25393002|PMID:25741868|PMID:25892596|PMID:26306801|PMID:26341711|PMID:26799529|PMID:26858591|PMID:27066564|PMID:27393118|PMID:28492532|PMID:29398121|PMID:30528390|PMID:31267130|PMID:33617693|PMID:9197268|PMID:9462735|PMID:9499430|PMID:9506559|PMID:9827625 8771733 Snca synuclein alpha gene DOID:0060895 Parkinson's disease 4 ISO RGD:733186 D RGD:7240710 20180130 OMIM 8771733 Snca synuclein alpha gene DOID:0060895 Parkinson's disease 4 ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 4 PMID:11376188|PMID:21559878|PMID:25741868|PMID:26858591|PMID:28492532|PMID:33617693 8771733 Snca synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:733186 D RGD:9068941 20240111 CTD CTD Direct Evidence: marker/mechanism PMID:20464527|PMID:22319455|PMID:23046578|PMID:23295396|PMID:26075822|PMID:26558463|PMID:26687234|PMID:27026137|PMID:27324791|PMID:38016618 8771733 Snca synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:735748 D RGD:9068941 20200609 RGD PMID:15147505|REF_RGD_ID:6478802 8771733 Snca synuclein alpha gene DOID:0080855 Parkinsonism ISO RGD:735748 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15499605|REF_RGD_ID:6478799 8771733 Snca synuclein alpha gene DOID:10652 Alzheimer's disease ISO RGD:733186 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:11572944|REF_RGD_ID:1302528 8771733 Snca synuclein alpha gene DOID:10652 Alzheimer's disease ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 8771733 Snca synuclein alpha gene DOID:11870 Pick's disease ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:12410393|REF_RGD_ID:6480200 8771733 Snca synuclein alpha gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:cerebral spinal fluid: PMID:18625222|REF_RGD_ID:13506723 8771733 Snca synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:7240710 20180130 OMIM 8771733 Snca synuclein alpha gene DOID:12217 Lewy body dementia ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:10417297|PMID:11261505|PMID:11376188|PMID:12062037|PMID:14593171|PMID:14755719|PMID:14755720|PMID:15144854|PMID:15451224|PMID:15451225|PMID:15498564|PMID:15632170|PMID:16001411|PMID:16199547|PMID:16358335|PMID:17251522|PMID:17489854|PMID:17576681|PMID:17625105|PMID:18195271|PMID:18413475|PMID:18704525|PMID:18852445|PMID:18852448|PMID:18852449|PMID:19139307|PMID:19632874|PMID:19833540|PMID:20340137|PMID:21252228|PMID:21559878|PMID:23427326|PMID:23457019|PMID:23674501|PMID:23880019|PMID:24047453|PMID:24313877|PMID:24552873|PMID:24746362|PMID:24752924|PMID:24936070|PMID:25003242|PMID:25268550|PMID:25393002|PMID:25741868|PMID:25892596|PMID:26341711|PMID:26799529|PMID:26858591|PMID:27066564|PMID:27393118|PMID:28492532|PMID:28666710|PMID:29398121|PMID:29771508|PMID:30528390|PMID:30598256|PMID:32786148|PMID:33617693|PMID:9197268|PMID:9499430|PMID:9506559|PMID:9536098|PMID:9827625 8771733 Snca synuclein alpha gene DOID:1289 neurodegenerative disease ISO RGD:733186 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:17296847|PMID:18514411|PMID:26075822 8771733 Snca synuclein alpha gene DOID:13548 secondary Parkinson disease ISO RGD:733186 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34332006 8771733 Snca synuclein alpha gene DOID:14330 Parkinson's disease ISO RGD:733186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:23427326|PMID:23457019|PMID:24047453|PMID:24752924|PMID:24936070|PMID:25393002|PMID:25741868|PMID:26341711|PMID:28492532|PMID:29398121|PMID:30528390 8771733 Snca synuclein alpha gene DOID:1574 alcohol use disorder ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18055133 8771733 Snca synuclein alpha gene DOID:1596 depressive disorder ISO RGD:3729 D RGD:9068941 20200609 RGD PMID:18800064|REF_RGD_ID:6218960 8771733 Snca synuclein alpha gene DOID:1596 depressive disorder ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:19198857|REF_RGD_ID:6478716 8771733 Snca synuclein alpha gene DOID:1926 Gaucher's disease ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19576930 8771733 Snca synuclein alpha gene DOID:3192 neurilemmoma ISO RGD:3729 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm PMID:11810180|REF_RGD_ID:6218996 8771733 Snca synuclein alpha gene DOID:3312 bipolar disorder ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:19198857|REF_RGD_ID:6478716 8771733 Snca synuclein alpha gene DOID:3321 GM2 gangliosidosis ISO RGD:735748 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:12657883|REF_RGD_ID:6480199 8771733 Snca synuclein alpha gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:10934140|REF_RGD_ID:6480098 8771733 Snca synuclein alpha gene DOID:4752 multiple system atrophy ISO RGD:733186 D RGD:9068941 20200609 RGD protein:increased expression:oligodendrocyte PMID:9749615|REF_RGD_ID:6480091 8771733 Snca synuclein alpha gene DOID:5419 schizophrenia ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:19198857|REF_RGD_ID:6478716 8771733 Snca synuclein alpha gene DOID:6000 congestive heart failure ISO RGD:733186 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8771733 Snca synuclein alpha gene DOID:630 genetic disease ISO RGD:733186 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771733 Snca synuclein alpha gene DOID:670 amphetamine abuse ISO RGD:733186 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:15542733|PMID:32278788 8771733 Snca synuclein alpha gene DOID:670 amphetamine abuse treatment ISO RGD:3729 D RGD:9068941 20200609 RGD PMID:20551914|REF_RGD_ID:13506280 8771733 Snca synuclein alpha gene DOID:8646 substance-induced psychosis ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542733 8771733 Snca synuclein alpha gene DOID:8692 myeloid leukemia ISO RGD:733186 D RGD:9068941 20200609 RGD PMID:21264917|REF_RGD_ID:6478703 8771733 Snca synuclein alpha gene DOID:8725 vascular dementia ISO RGD:733186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 8771733 Snca synuclein alpha gene DOID:893 Wilson disease ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8771733 Snca synuclein alpha gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:733186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8771733 Snca synuclein alpha gene DOID:9000304 Manganese Poisoning ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23934647 8771733 Snca synuclein alpha gene DOID:9000542 Animal Lameness ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23219665 8771733 Snca synuclein alpha gene DOID:9000998 Brain Injuries ISO RGD:3729 D RGD:9068941 20200609 RGD PMID:25089700|REF_RGD_ID:11576302 8771733 Snca synuclein alpha gene DOID:9000998 Brain Injuries ISO RGD:735748 D RGD:9068941 20200609 RGD PMID:14637093|REF_RGD_ID:6480195 8771733 Snca synuclein alpha gene DOID:9001981 Weight Loss ISO RGD:733186 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32278788 8771733 Snca synuclein alpha gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:733186 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32278788 8771733 Snca synuclein alpha gene DOID:9002955 Nerve Degeneration ISO RGD:733186 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21039522|PMID:23106139|PMID:27585560|PMID:34562559 8771733 Snca synuclein alpha gene DOID:9004866 Ataxia ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31783120 8771733 Snca synuclein alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18055133 8771733 Snca synuclein alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733186 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dopamine neuron PMID:12684441|REF_RGD_ID:6480198 8771733 Snca synuclein alpha gene DOID:9006205 Animal Disease Models ISO RGD:733186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892157|PMID:26075822 8771755 Spire1 spire type actin nucleation factor 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1354236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8771755 Spire1 spire type actin nucleation factor 1 gene DOID:1059 intellectual disability ISO RGD:1354236 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8771755 Spire1 spire type actin nucleation factor 1 gene DOID:543 dystonia ISO RGD:1354236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8771755 Spire1 spire type actin nucleation factor 1 gene DOID:630 genetic disease ISO RGD:1354236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771780 Tm6sf2 transmembrane 6 superfamily member 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1318158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24531328 8771780 Tm6sf2 transmembrane 6 superfamily member 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1318158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482880 8771780 Tm6sf2 transmembrane 6 superfamily member 2 gene DOID:5844 myocardial infarction ISO RGD:1318158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24633158 8771780 Tm6sf2 transmembrane 6 superfamily member 2 gene DOID:630 genetic disease ISO RGD:1318158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771794 Slc45a3 solute carrier family 45 member 3 gene DOID:0080600 COVID-19 ISO RGD:1346444 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8771794 Slc45a3 solute carrier family 45 member 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8771794 Slc45a3 solute carrier family 45 member 3 gene DOID:12849 autistic disorder ISO RGD:1346444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8771794 Slc45a3 solute carrier family 45 member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1346444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8771794 Slc45a3 solute carrier family 45 member 3 gene DOID:3307 teratoma ISO RGD:1346444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8771794 Slc45a3 solute carrier family 45 member 3 gene DOID:630 genetic disease ISO RGD:1346444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771794 Slc45a3 solute carrier family 45 member 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346444 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8771794 Slc45a3 solute carrier family 45 member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8771812 Tjp1 tight junction protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314849 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8771812 Tjp1 tight junction protein 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 8771812 Tjp1 tight junction protein 1 gene DOID:1059 intellectual disability ISO RGD:1314849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8771812 Tjp1 tight junction protein 1 gene DOID:10825 essential hypertension ISO RGD:1314849 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 8771812 Tjp1 tight junction protein 1 gene DOID:12849 autistic disorder ISO RGD:1314849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 8771812 Tjp1 tight junction protein 1 gene DOID:13141 uveitis ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization: corneal endothelium PMID:18587491|REF_RGD_ID:2325139 8771812 Tjp1 tight junction protein 1 gene DOID:13580 cholestasis ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18197414|REF_RGD_ID:2325141 8771812 Tjp1 tight junction protein 1 gene DOID:13976 peptic esophagitis ISO RGD:1306305 D RGD:9068941 20200609 RGD PMID:19653339|REF_RGD_ID:2325133 8771812 Tjp1 tight junction protein 1 gene DOID:1932 Angelman syndrome ISO RGD:1314849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 8771812 Tjp1 tight junction protein 1 gene DOID:2316 brain ischemia ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:19712057|REF_RGD_ID:2325131 8771812 Tjp1 tight junction protein 1 gene DOID:4606 bile duct cancer ISO RGD:1314849 D RGD:9068941 20200609 RGD protein:decreased expression:bile duct PMID:19184677|REF_RGD_ID:2325030 8771812 Tjp1 tight junction protein 1 gene DOID:4724 brain edema ISO RGD:1314849 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral edema PMID:25741868 8771812 Tjp1 tight junction protein 1 gene DOID:4948 gallbladder carcinoma ISO RGD:1314849 D RGD:9068941 20200609 RGD protein:decreased expression:gallbladder PMID:19184677|REF_RGD_ID:2325030 8771812 Tjp1 tight junction protein 1 gene DOID:5419 schizophrenia ISO RGD:1314849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8771812 Tjp1 tight junction protein 1 gene DOID:630 genetic disease ISO RGD:1314849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8771812 Tjp1 tight junction protein 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19390485|REF_RGD_ID:2317627 8771812 Tjp1 tight junction protein 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:altered localization PMID:18854840|REF_RGD_ID:2325137 8771812 Tjp1 tight junction protein 1 gene DOID:9000641 Pain ISO RGD:1306305 D RGD:9068941 20200609 RGD associated with Inflammation;protein:increased expression:brain PMID:19319146|REF_RGD_ID:2325136 8771812 Tjp1 tight junction protein 1 gene DOID:9000998 Brain Injuries ISO RGD:1306305 D RGD:9068941 20200609 RGD PMID:19889224|REF_RGD_ID:2325128 8771812 Tjp1 tight junction protein 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1306305 D RGD:9068941 20200609 RGD PMID:18848892|REF_RGD_ID:2325138 8771812 Tjp1 tight junction protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1306305 D RGD:9068941 20200609 RGD PMID:19929946|REF_RGD_ID:2325127 8771812 Tjp1 tight junction protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:decreased expression:brain, endothelial cell PMID:19374856|REF_RGD_ID:2325135 8771812 Tjp1 tight junction protein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306305 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:16567508|REF_RGD_ID:2325150 8771812 Tjp1 tight junction protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314850 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:16567508|REF_RGD_ID:2325150 8771812 Tjp1 tight junction protein 1 gene DOID:936 brain disease ISO RGD:1306305 D RGD:9068941 20200609 RGD associate with Pancreatitis, Acute Necrotizing PMID:19712057|REF_RGD_ID:2325131 8771858 Znf746 zinc finger protein 746 gene DOID:630 genetic disease ISO RGD:1606138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771879 Epn1 epsin 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:619772 D RGD:9068941 20200609 RGD protein:increased degradation:brain PMID:19240038|REF_RGD_ID:13461853 8771879 Epn1 epsin 1 gene DOID:630 genetic disease ISO RGD:1342807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771897 Odf4 outer dense fiber of sperm tails 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346133 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 8771897 Odf4 outer dense fiber of sperm tails 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1346133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8771897 Odf4 outer dense fiber of sperm tails 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1346133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8771897 Odf4 outer dense fiber of sperm tails 4 gene DOID:630 genetic disease ISO RGD:1346133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771908 Sgtb small glutamine rich tetratricopeptide repeat co-chaperone beta gene DOID:630 genetic disease ISO RGD:1353974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771908 Sgtb small glutamine rich tetratricopeptide repeat co-chaperone beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8771950 Sidt1 SID1 transmembrane family member 1 gene DOID:2843 long QT syndrome ISO RGD:1346888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8771950 Sidt1 SID1 transmembrane family member 1 gene DOID:630 genetic disease ISO RGD:1346888 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8771950 Sidt1 SID1 transmembrane family member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8771992 Tpm4 tropomyosin 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8771992 Tpm4 tropomyosin 4 gene DOID:10320 asbestosis ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 8771992 Tpm4 tropomyosin 4 gene DOID:11476 osteoporosis ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8771992 Tpm4 tropomyosin 4 gene DOID:2213 hemorrhagic disease ISO RGD:736665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8771992 Tpm4 tropomyosin 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8771992 Tpm4 tropomyosin 4 gene DOID:630 genetic disease ISO RGD:736665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8771992 Tpm4 tropomyosin 4 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8771992 Tpm4 tropomyosin 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 8771992 Tpm4 tropomyosin 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8771992 Tpm4 tropomyosin 4 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8771992 Tpm4 tropomyosin 4 gene DOID:9004657 Weight Gain ISO RGD:736665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8771992 Tpm4 tropomyosin 4 gene DOID:9005692 Platelet-Type Bleeding Disorder 25 ISO RGD:736665 D RGD:7240710 20230906 OMIM 8771992 Tpm4 tropomyosin 4 gene DOID:9005692 Platelet-Type Bleeding Disorder 25 ISO RGD:736665 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 25 PMID:28134622|PMID:34758189|PMID:35170221 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:0050476 Barth syndrome ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1343373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:1343373 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:12849 autistic disorder ISO RGD:1343373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:13628 favism ISO RGD:1343373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1343373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:607 paraplegia ISO RGD:1343373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:630 genetic disease ISO RGD:1343373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772004 Arhgap4 Rho GTPase activating protein 4 gene DOID:9002720 Splenomegaly ISO RGD:1343373 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8772045 Tsc22d4 TSC22 domain family member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8772045 Tsc22d4 TSC22 domain family member 4 gene DOID:630 genetic disease ISO RGD:1601955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772054 Sod3 superoxide dismutase 3 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 8772054 Sod3 superoxide dismutase 3 gene DOID:10763 hypertension ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:16864745|REF_RGD_ID:1581232 8772054 Sod3 superoxide dismutase 3 gene DOID:10763 hypertension ISO RGD:3733 D RGD:9068941 20200609 RGD PMID:12600899|REF_RGD_ID:1580845 8772054 Sod3 superoxide dismutase 3 gene DOID:10763 hypertension ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16864745|PMID:17023265 8772054 Sod3 superoxide dismutase 3 gene DOID:114 heart disease ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:16014615|PMID:16840738|REF_RGD_ID:1579965|REF_RGD_ID:1580843 8772054 Sod3 superoxide dismutase 3 gene DOID:1389 polyneuropathy ISO RGD:736515 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:exon:p.R213G (human) PMID:12815947|REF_RGD_ID:1581254 8772054 Sod3 superoxide dismutase 3 gene DOID:2316 brain ischemia ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:10833313|REF_RGD_ID:1580852 8772054 Sod3 superoxide dismutase 3 gene DOID:2773 contact dermatitis ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17392825 8772054 Sod3 superoxide dismutase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16399992|PMID:16467073 8772054 Sod3 superoxide dismutase 3 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:736515 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R213G (human) PMID:16399992|REF_RGD_ID:1581270 8772054 Sod3 superoxide dismutase 3 gene DOID:3393 coronary artery disease ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:10811593|REF_RGD_ID:1580853 8772054 Sod3 superoxide dismutase 3 gene DOID:3770 pulmonary fibrosis ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15298984 8772054 Sod3 superoxide dismutase 3 gene DOID:552 pneumonia ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:16842247|REF_RGD_ID:1581268 8772054 Sod3 superoxide dismutase 3 gene DOID:5844 myocardial infarction ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:14592844|REF_RGD_ID:1580841 8772054 Sod3 superoxide dismutase 3 gene DOID:6000 congestive heart failure ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 8772054 Sod3 superoxide dismutase 3 gene DOID:630 genetic disease ISO RGD:736515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772054 Sod3 superoxide dismutase 3 gene DOID:8618 oral cavity cancer ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:23057317|REF_RGD_ID:14700938 8772054 Sod3 superoxide dismutase 3 gene DOID:8805 intermediate coronary syndrome ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:14592844|REF_RGD_ID:1580841 8772054 Sod3 superoxide dismutase 3 gene DOID:8947 diabetic retinopathy ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:12663605|REF_RGD_ID:1581298 8772054 Sod3 superoxide dismutase 3 gene DOID:9000784 Fibrosis ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:11880297|REF_RGD_ID:1581266 8772054 Sod3 superoxide dismutase 3 gene DOID:9000784 Fibrosis ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:11880297|REF_RGD_ID:1581266 8772054 Sod3 superoxide dismutase 3 gene DOID:9000918 Disease Progression ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 8772054 Sod3 superoxide dismutase 3 gene DOID:9001472 Nasal Polyps ISO RGD:736515 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:middle nasal turbinate, lamella (human) PMID:16540901|REF_RGD_ID:1581230 8772054 Sod3 superoxide dismutase 3 gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates ISO XCO:0000642 D RGD:9068941 20220128 RGD PMID:21730301|REF_RGD_ID:14369425 8772054 Sod3 superoxide dismutase 3 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:736515 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11779401|REF_RGD_ID:1581095 8772054 Sod3 superoxide dismutase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:11331 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:19470681|REF_RGD_ID:2312361 8772054 Sod3 superoxide dismutase 3 gene DOID:9002669 Hypoxia ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:15375030|REF_RGD_ID:1581265 8772054 Sod3 superoxide dismutase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:11331 D RGD:9068941 20200609 RGD PMID:15778274|REF_RGD_ID:1581264 8772054 Sod3 superoxide dismutase 3 gene DOID:9004484 Sepsis ISO RGD:3733 D RGD:9068941 20200609 RGD PMID:26266917|REF_RGD_ID:11035300 8772054 Sod3 superoxide dismutase 3 gene DOID:9005749 Necrosis ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11529661 8772054 Sod3 superoxide dismutase 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:736515 D RGD:9068941 20230928 RGD associated with coronary artery disease;DNA:SNP: :rs2536512, rs2855262 (human) PMID:31396447|REF_RGD_ID:401827159 8772054 Sod3 superoxide dismutase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:736515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Superoxide dismutase, elevated extracellular PMID:14662715|PMID:7662997|PMID:8034674 8772054 Sod3 superoxide dismutase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736515 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11529661 8772054 Sod3 superoxide dismutase 3 gene DOID:9007480 Hyperoxia ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:16100289|REF_RGD_ID:1581277 8772054 Sod3 superoxide dismutase 3 gene DOID:9007692 Insulin Resistance ISO RGD:736515 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:15171689|REF_RGD_ID:1625698 8772054 Sod3 superoxide dismutase 3 gene DOID:9351 diabetes mellitus ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:12830380|REF_RGD_ID:1581299 8772054 Sod3 superoxide dismutase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736515 D RGD:9068941 20200609 RGD PMID:15990193|REF_RGD_ID:1581225 8772060 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:68547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914 8772060 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:1682 congenital heart disease ISO RGD:68547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease 8772060 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:68379 D RGD:9068941 20200609 RGD PMID:11720783|REF_RGD_ID:10412057 8772060 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:2921 glomerulonephritis ISO RGD:68379 D RGD:9068941 20200609 RGD PMID:16282705|REF_RGD_ID:7387262 8772060 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:630 genetic disease ISO RGD:68547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772060 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8772060 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:68547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8772060 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:9003374 Autosomal Recessive Cutis Laxa Type IIE ISO RGD:68547 D RGD:7240710 20210728 OMIM 8772060 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:9003374 Autosomal Recessive Cutis Laxa Type IIE ISO RGD:68547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE PMID:25741868|PMID:33991472 8772060 Ltbp1 latent transforming growth factor beta binding protein 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68379 D RGD:9068941 20200609 RGD PMID:17574405|REF_RGD_ID:2302087 8772114 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8772114 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8772114 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic Leukoencephalopathy PMID:25741868|PMID:27159321|PMID:28857146 8772114 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1605060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8772114 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:0112076 nuclear type mitochondrial complex I deficiency 13 ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 PMID:18513682|PMID:25741868|PMID:27159321|PMID:28857146|PMID:32154054 8772114 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:3652 Leigh disease ISO RGD:1605060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 8772114 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:630 genetic disease ISO RGD:1605060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8772114 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8772114 Tmco6 transmembrane and coiled-coil domains 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0040088 autoimmune uveitis treatment ISO RGD:1345686 D RGD:9068941 20211105 RGD human recombinant protein in a rat model PMID:28011398|REF_RGD_ID:150520199 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0050012 chikungunya ISO RGD:1345686 D RGD:9068941 20210122 RGD protein:increased expression:blood serum (human) PMID:31365117|REF_RGD_ID:40925935 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0050598 extrapulmonary tuberculosis ISO RGD:1345686 D RGD:9068941 20201029 RGD protein:increased expression:serum (human) PMID:16001981|REF_RGD_ID:39939055 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0060180 colitis ISO RGD:1617608 D RGD:9068941 20200827 RGD associated with Helicobacter Infections;mRNA:decreased expression:colon (mouse, Helicobacter hepaticus) PMID:17242461|REF_RGD_ID:38549339 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 ISO RGD:1345686 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32161940 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 disease_progression ISO RGD:1345686 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 exacerbates ISO RGD:1345686 D RGD:9068941 20211126 RGD protein:increased expression:blood plasma (human) PMID:33197260|REF_RGD_ID:150523790 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 severity ISO RGD:1345686 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0080600 COVID-19 severity ISO RGD:1345686 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32297828|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238|REF_RGD_ID:32716368 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0080784 urinary tract infection treatment ISO RGD:1345686 D RGD:9068941 20211105 RGD human recombinant protein in a mouse model PMID:28011398|REF_RGD_ID:150520199 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:0080810 acute asthma treatment ISO RGD:1345686 D RGD:9068941 20210122 RGD PMID:30059697|REF_RGD_ID:39939057 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:10113 trypanosomiasis disease_progression ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:cerebrospinal fluid (human) PMID:25375156|REF_RGD_ID:150521552 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:1024 leprosy severity ISO RGD:1345686 D RGD:9068941 20211112 RGD DNA:SNP:promoter:g.-353T>A (rs4073) (human) PMID:30303246|REF_RGD_ID:40400755 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:10459 common cold treatment ISO RGD:1345686 D RGD:9068941 20211112 RGD PMID:28343401|REF_RGD_ID:150521550 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:10533 viral pneumonia ISO RGD:1345686 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:10754 otitis media IEP D RGD:11553900|PMID:10085040 20161017 RGD 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:11054 urinary bladder cancer ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22015448 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:11077 brucellosis susceptibility ISO RGD:1345686 D RGD:9068941 20211126 RGD DNA:SNP:promoter:g.-251A>T (human) PMID:24076593|REF_RGD_ID:150523788 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:11265 trachoma susceptibility ISO RGD:1345686 D RGD:9068941 20211105 RGD DNA:SNP:promoter:g.-251A>T (rs4073) (human) PMID:20015396|REF_RGD_ID:150520200 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:1345686 D RGD:9068941 20211126 RGD associated with toxic shock syndrome;DNA:SNP:promoter:g.-251A>T (human) PMID:22897124|REF_RGD_ID:150523785 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:11934 head and neck cancer exacerbates ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:1205 allergic disease ISO RGD:1617608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:12053 cryptococcosis ISO RGD:1617608 D RGD:9068941 20200827 RGD mRNA:increased expression:lung (mouse) PMID:27596810|REF_RGD_ID:38549345 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:12236 primary biliary cholangitis ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:21731723|REF_RGD_ID:26884357 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:12351 alcoholic hepatitis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26220752 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:nasopharynx(human) PMID:29325581|REF_RGD_ID:150521551 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:13078 eumycotic mycetoma ISO RGD:1345686 D RGD:9068941 20211126 RGD DNA:SNP:promoter:g.-251T>A (human) PMID:17709521|REF_RGD_ID:150523787 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:13241 Behcet's disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8712863 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:13272 Klebsiella pneumonia ISO RGD:1617608 D RGD:9068941 20200827 RGD PMID:11207292|REF_RGD_ID:38549344 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:13580 cholestasis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:13608 biliary atresia ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:24493287|REF_RGD_ID:26884361 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:13976 peptic esophagitis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18193101 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:14250 Down syndrome ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289943 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:1485 cystic fibrosis ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20818377|REF_RGD_ID:5135034 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:1749 squamous cell carcinoma ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956251 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:1790 malignant mesothelioma ISO RGD:1345686 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674|PMID:28377727 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:1793 pancreatic cancer ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18307536 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:1852 intrahepatic cholestasis ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:24493287|REF_RGD_ID:26884361 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:1883 hepatitis C ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:blood serum (human) PMID:28163109|REF_RGD_ID:150521548 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2272 vulvovaginal candidiasis ISO RGD:1345686 D RGD:9068941 20211126 RGD associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human) PMID:18243333|REF_RGD_ID:150523783 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2377 multiple sclerosis ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20138139|REF_RGD_ID:5134999 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1345686 D RGD:9068941 20211126 RGD protein:increased expression:blood plasma, erythrocyte (human) PMID:26300588|REF_RGD_ID:11250849 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:289 endometriosis ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:peritoneal fluid (human) PMID:25704572|PMID:29962266|REF_RGD_ID:150520017|REF_RGD_ID:150521547 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2921 glomerulonephritis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440|PMID:9403216 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345686 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:14514395|REF_RGD_ID:30309961 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345686 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345686 D RGD:9068941 20200709 RGD protein:increased expression:serum (human) PMID:15271897|REF_RGD_ID:32716401 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1345686 D RGD:9068941 20200702 RGD protein:increased expression:blood (human) PMID:15472864|REF_RGD_ID:34888224 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1345686 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:16195357|REF_RGD_ID:30309218 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1345686 D RGD:9068941 20200619 RGD protein:increased expression:serum (human) PMID:15657466|REF_RGD_ID:30309219 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1345686 D RGD:9068941 20200702 RGD PMID:15865221|REF_RGD_ID:33769580 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2957 pulmonary tuberculosis ISO RGD:1345686 D RGD:9068941 20201029 RGD protein:increased expression:serum (human) PMID:16001981|REF_RGD_ID:39939055 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:1345686 D RGD:9068941 20211126 RGD RNA:increased expression:blood plasma (human) PMID:27434276|REF_RGD_ID:150523784 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:299 adenocarcinoma ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18307536 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:3068 glioblastoma ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16356833 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15337792|PMID:23099361|PMID:28864214 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:321 tropical spastic paraparesis severity ISO RGD:1345686 D RGD:9068941 20201022 RGD protein:increased expression:plasma (human) PMID:26800845|REF_RGD_ID:39939014 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:esophagus (human) PMID:31423201|REF_RGD_ID:150520019 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:3770 pulmonary fibrosis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17266442|PMID:17894541 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1345686 D RGD:9068941 20211105 RGD human recombinant protein in a mouse model PMID:28011398|REF_RGD_ID:150520199 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956251 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:399 tuberculosis ISO RGD:1345686 D RGD:9068941 20211126 RGD protein:increased expression:blood plasma, erythrocyte (human) PMID:26300588|REF_RGD_ID:11250849 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:399 tuberculosis susceptibility ISO RGD:1345686 D RGD:9068941 20211105 RGD DNA:SNP:promoter:-251A>T (human) PMID:32393145|REF_RGD_ID:150520198 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:4029 gastritis disease_progression ISO RGD:1345686 D RGD:9068941 20211126 RGD associated with Helicobacter Infections;DNA:SNP:promoter:g.-251T>A (human) PMID:20380014|REF_RGD_ID:150523786 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:4033 bacterial gastritis susceptibility ISO RGD:1345686 D RGD:9068941 20210129 RGD associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human) PMID:31522447|REF_RGD_ID:40925938 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:4677 keratitis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:4947 cholangiocarcinoma ISO RGD:1345686 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:18550579 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:5082 liver cirrhosis ISO RGD:1617608 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15763341 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, serum (human) PMID:21731723|REF_RGD_ID:26884357 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345686 D RGD:9068941 20200806 RGD associated with pleural tuberculosis; PMID:21303360|REF_RGD_ID:36947878 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345686 D RGD:9068941 20211112 RGD protein:increased expression:cerebrospinal fluid (human) PMID:31217522|REF_RGD_ID:150521549 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:5517 stomach carcinoma susceptibility ISO RGD:1345686 D RGD:9068941 20210129 RGD associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human) PMID:31522447|REF_RGD_ID:40925938 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:552 pneumonia ISO RGD:1345686 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:552 pneumonia ISO RGD:1617608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:559 acute pyelonephritis susceptibility ISO RGD:1345686 D RGD:9068941 20211112 RGD DNA:SNP:promoter:g.-251T>A (rs4073) (human) PMID:22325052|REF_RGD_ID:7207860 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:5773 oral submucous fibrosis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28984080 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:6000 congestive heart failure ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:630 genetic disease ISO RGD:1345686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:6432 pulmonary hypertension ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302794 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:646 viral encephalitis susceptibility ISO RGD:1345686 D RGD:9068941 20201218 RGD DNA:SNP:promoter: -251A>T (human) PMID:25751776|REF_RGD_ID:39939049 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:30523154|REF_RGD_ID:26884364 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1345686 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12432545|PMID:35776891 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345686 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:26078356|REF_RGD_ID:11526468 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1345686 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple PMID:24381110|REF_RGD_ID:26884366 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860|PMID:19192274 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:8506 bullous pemphigoid ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359455 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:8506 bullous pemphigoid ISO RGD:1617608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359455 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18193101|PMID:20616304 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:8557 oropharynx cancer ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:8574 lichen disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18393961 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:8577 ulcerative colitis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12133438|PMID:15955209 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:8618 oral cavity cancer ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:8805 intermediate coronary syndrome ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10660968 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:8858 tonsil cancer ISO RGD:1345686 D RGD:9068941 20211022 RGD mRNA:increased expression:head, neck (human) PMID:31452775|REF_RGD_ID:150520018 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:893 Wilson disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1345686 D RGD:9068941 20201029 RGD PMID:29655167|REF_RGD_ID:39939058 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9000197 Edema ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15492468|PMID:15723263 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1345686 D RGD:9068941 20200609 RGD Chronic hepatitis B; protein:increased expression:liver, plasma (human) PMID:27974825|REF_RGD_ID:26884362 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1345686 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:plasma (human) PMID:29476704|REF_RGD_ID:26884367 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9000972 Fever ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11852909 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9001109 Anorexia susceptibility ISO RGD:1345686 D RGD:9068941 20211126 RGD DNA:SNP:promoter:g.-251A>T PMID:24076593|REF_RGD_ID:150523788 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28864214 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9001414 Neurosyphilis treatment ISO RGD:1345686 D RGD:9068941 20201029 RGD PMID:27650493|REF_RGD_ID:39939071 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9002211 Hyperalgesia ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:7881729 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16606632|PMID:17606477 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9002371 Cardiotoxicity ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9002512 Postherpetic Neuralgia ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11280320 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401270|PMID:21742513 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9003688 Toxoplasma Chorioretinitis severity ISO RGD:1345686 D RGD:9068941 20201029 RGD protein:increased expression:serum (human) PMID:17488320|REF_RGD_ID:39939053 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9004009 Reperfusion Injury ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12865660 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1345686 D RGD:9068941 20211112 RGD PMID:21554996|REF_RGD_ID:150521553 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9004422 Chagas Cardiomyopathy disease_progression ISO RGD:1345686 D RGD:9068941 20211022 RGD DNA:SNP:promoter:g.-251A>T (rs4073) (human) PMID:22537745|REF_RGD_ID:39939013 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9004443 Intractable Pain ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11280320 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9004484 Sepsis exacerbates ISO RGD:1345686 D RGD:9068941 20211105 RGD protein:increased expression:blood plasma (human) PMID:31818332|REF_RGD_ID:40924635 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345686 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9004610 Acute Lung Injury disease_progression ISO RGD:1345686 D RGD:9068941 20210129 RGD associated with sepsis;protein:increased expression:blood serum (human) PMID:28506137|REF_RGD_ID:40925937 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29421334 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9005372 Inflammation ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20578705|PMID:24795235 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9005473 Bacterial Eye Infections ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9005882 Spine Osteoarthritis ISO RGD:1345686 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9006549 Enterovirus Infections severity ISO RGD:1345686 D RGD:9068941 20211105 RGD DNA:SNP:intron:g.+781C>T (human) PMID:24609754|REF_RGD_ID:150520201 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9006618 Liver Metastasis ISO RGD:1345686 D RGD:9068941 20200609 RGD associated with colorectal cancer; human colon adenocarcinoma cells in a mouse model PMID:29679563|REF_RGD_ID:26884358 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:1345686 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1345686 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1345686 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9006939 Lyme Neuroborreliosis treatment ISO RGD:1345686 D RGD:9068941 20201029 RGD PMID:24239846|REF_RGD_ID:39939054 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9007346 Cachexia ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:1617608 D RGD:9068941 20200702 RGD PMID:27175332|REF_RGD_ID:32733623 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22015448 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17380299 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9007874 Liver Failure disease_progression ISO RGD:1345686 D RGD:9068941 20200609 RGD associated with transient myeloproliferative syndrome and Down syndrome;protein:increased expression:serum (human) PMID:30314728|REF_RGD_ID:26884360 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9008 psoriatic arthritis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732956 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9008114 Helicobacter Infections ISO RGD:1617608 D RGD:9068941 20200827 RGD associated with gastritis;mRNA:increased expression:stomach (mouse, Helicobacter felis) PMID:17242461|REF_RGD_ID:38549339 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1617608 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1345686 D RGD:9068941 20211105 RGD associated with liver disease;mRNA, protein:increased expression:liver, blood serum (human) PMID:23890815|REF_RGD_ID:150520196 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1345686 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:serum, peripheral blood mononuclear cell (human) PMID:26265888|REF_RGD_ID:11075958 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20065508 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9008559 Bacterial Lung Diseases severity ISO RGD:1345686 D RGD:9068941 20210129 RGD protein:increased expression:nasal mucus (human) PMID:24211414|REF_RGD_ID:40925940 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9008885 Staphylococcal Infections ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9008939 Breast Neoplasms ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9146 visceral leishmaniasis ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461696 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:1345686 D RGD:9068941 20211126 RGD DNA:SNP:promoter:g.-251A>T (human) PMID:25821028|REF_RGD_ID:150523789 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1345686 D RGD:9068941 20211126 RGD PMID:32984951|REF_RGD_ID:150523791 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9206 Barrett's esophagus ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 8772136 Cxcl8 C-X-C motif chemokine ligand 8 gene DOID:9452 steatotic liver disease ISO RGD:1345686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348005 8772168 Trpm6 transient receptor potential cation channel subfamily M member 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:28041643|PMID:32581362 8772168 Trpm6 transient receptor potential cation channel subfamily M member 6 gene DOID:0060883 intestinal hypomagnesemia 1 ISO RGD:1320558 D RGD:7240710 20180130 OMIM 8772168 Trpm6 transient receptor potential cation channel subfamily M member 6 gene DOID:0060883 intestinal hypomagnesemia 1 ISO RGD:1320558 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 PMID:12032568|PMID:12032570|PMID:14976260|PMID:16107578|PMID:23942199|PMID:24030239|PMID:24985022|PMID:25741868|PMID:26813946|PMID:28492532|PMID:33565749|PMID:34906502|PMID:9285786 8772168 Trpm6 transient receptor potential cation channel subfamily M member 6 gene DOID:630 genetic disease ISO RGD:1320558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33565749 8772168 Trpm6 transient receptor potential cation channel subfamily M member 6 gene DOID:896 metal metabolism disorder ISO RGD:1320558 D RGD:9068941 20200609 RGD hypomagnesemia with secondary hypocalcemia, OMIM:602014 PMID:12032568|REF_RGD_ID:1599669 8772168 Trpm6 transient receptor potential cation channel subfamily M member 6 gene DOID:9008296 Eye Abnormalities ISO RGD:1320558 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643|PMID:32581362 8772222 Mettl25b methyltransferase like 25B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8772222 Mettl25b methyltransferase like 25B gene DOID:0111940 immunodeficiency 42 ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8772222 Mettl25b methyltransferase like 25B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8772222 Mettl25b methyltransferase like 25B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8772222 Mettl25b methyltransferase like 25B gene DOID:1540 parathyroid carcinoma ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8772222 Mettl25b methyltransferase like 25B gene DOID:5812 MHC class II deficiency ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8772222 Mettl25b methyltransferase like 25B gene DOID:630 genetic disease ISO RGD:1603041 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772222 Mettl25b methyltransferase like 25B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8772237 Thra thyroid hormone receptor alpha gene DOID:0070128 congenital nongoitrous hypothyroidism 6 ISO RGD:736295 D RGD:7240710 20180130 OMIM 8772237 Thra thyroid hormone receptor alpha gene DOID:0070128 congenital nongoitrous hypothyroidism 6 ISO RGD:736295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 PMID:11075809|PMID:22168587|PMID:22494134|PMID:24969835|PMID:25326635|PMID:25670821|PMID:25741868|PMID:28492532|PMID:34008892 8772237 Thra thyroid hormone receptor alpha gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:736295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8772237 Thra thyroid hormone receptor alpha gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:11415 D RGD:9068941 20220825 MouseDO OMIM:188570 | OMIM:274300 8772237 Thra thyroid hormone receptor alpha gene DOID:1612 breast cancer ISO RGD:736295 D RGD:9068941 20200609 RGD PMID:12082618|REF_RGD_ID:2315096 8772237 Thra thyroid hormone receptor alpha gene DOID:289 endometriosis ISO RGD:736295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8772237 Thra thyroid hormone receptor alpha gene DOID:4450 renal cell carcinoma ISO RGD:736295 D RGD:9068941 20200609 RGD DNA:mutations (human) PMID:11756220|REF_RGD_ID:2315097 8772237 Thra thyroid hormone receptor alpha gene DOID:630 genetic disease ISO RGD:736295 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24969835|PMID:25741868 8772237 Thra thyroid hormone receptor alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8772237 Thra thyroid hormone receptor alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3857 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:increased expression:heart PMID:17389455|REF_RGD_ID:2314321 8772237 Thra thyroid hormone receptor alpha gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11685700 8772249 Gpr89a G protein-coupled receptor 89A gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1642209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 8772249 Gpr89a G protein-coupled receptor 89A gene DOID:1540 parathyroid carcinoma ISO RGD:1642209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8772249 Gpr89a G protein-coupled receptor 89A gene DOID:5419 schizophrenia ISO RGD:1642209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8772249 Gpr89a G protein-coupled receptor 89A gene DOID:630 genetic disease ISO RGD:1642209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772249 Gpr89a G protein-coupled receptor 89A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1642209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8772282 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0060041 autism spectrum disorder ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8772282 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1344275 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8772282 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8772282 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8772282 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:10581 metachromatic leukodystrophy ISO RGD:1344275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8772282 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:1344275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8772282 Pim3 Pim-3 proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1344275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772294 Gng12 G protein subunit gamma 12 gene DOID:1059 intellectual disability ISO RGD:1319444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8772304 Prr29 proline rich 29 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1603374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 8772304 Prr29 proline rich 29 gene DOID:630 genetic disease ISO RGD:1603374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772321 Timmdc1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:0112071 nuclear type mitochondrial complex I deficiency 31 ISO RGD:1351318 D RGD:7240710 20190315 OMIM 8772321 Timmdc1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:0112071 nuclear type mitochondrial complex I deficiency 31 ISO RGD:1351318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 PMID:25741868|PMID:28492532|PMID:28604674|PMID:33278652|PMID:33586140|PMID:35091571 8772321 Timmdc1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1351318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8772321 Timmdc1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1351318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 8772321 Timmdc1 translocase of inner mitochondrial membrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1351318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8772337 Snx27 sorting nexin 27 gene DOID:0080422 Dravet syndrome ISO RGD:1349647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17576681|PMID:25894286|PMID:28492532|PMID:31957018|PMID:9536098 8772337 Snx27 sorting nexin 27 gene DOID:0080422 Dravet syndrome ISO RGD:1349647 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17576681|PMID:25741868|PMID:25894286|PMID:28492532|PMID:31957018|PMID:9536098 8772337 Snx27 sorting nexin 27 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8772337 Snx27 sorting nexin 27 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8772337 Snx27 sorting nexin 27 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8772337 Snx27 sorting nexin 27 gene DOID:1540 parathyroid carcinoma ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8772337 Snx27 sorting nexin 27 gene DOID:5812 MHC class II deficiency ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8772337 Snx27 sorting nexin 27 gene DOID:630 genetic disease ISO RGD:1349647 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8772337 Snx27 sorting nexin 27 gene DOID:684 hepatocellular carcinoma ISO RGD:1349647 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36029209 8772337 Snx27 sorting nexin 27 gene DOID:9000918 Disease Progression ISO RGD:1349647 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36029209 8772337 Snx27 sorting nexin 27 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1349647 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36029209 8772337 Snx27 sorting nexin 27 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8772389 Pacc1 proton activated chloride channel 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8772389 Pacc1 proton activated chloride channel 1 gene DOID:630 genetic disease ISO RGD:1602479 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772389 Pacc1 proton activated chloride channel 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8772410 Katnal1 katanin catalytic subunit A1 like 1 gene DOID:630 genetic disease ISO RGD:1346255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772433 Oser1 oxidative stress responsive serine rich 1 gene DOID:2234 focal epilepsy ISO RGD:1350756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8772433 Oser1 oxidative stress responsive serine rich 1 gene DOID:630 genetic disease ISO RGD:1350756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772433 Oser1 oxidative stress responsive serine rich 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1349923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1349923 D RGD:7240710 20180130 OMIM 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1349923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:12872255|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22304930|PMID:22492991|PMID:22742743|PMID:22786653|PMID:23249953|PMID:23430862|PMID:23591138|PMID:23806237|PMID:24033266|PMID:24759841|PMID:25326635|PMID:25500013|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31127727|PMID:31153949|PMID:31589614|PMID:33743358|PMID:9536098 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0080690 RASopathy ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1349923 D RGD:7240710 20180130 OMIM 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1349923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2 PMID:12872255|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22742743|PMID:22786653|PMID:23249953|PMID:23430862|PMID:23591138|PMID:23806237|PMID:24033266|PMID:24759841|PMID:25500013|PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31127727|PMID:31153949|PMID:31589614|PMID:33743358|PMID:9536098 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3133 acute porphyria ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:18414213|PMID:25741868|PMID:28492532 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:3890 acute intermittent porphyria ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type PMID:18414213|PMID:25741868|PMID:28492532 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:12872255|PMID:18414213|PMID:22304930|PMID:22742743|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30117111|PMID:31589614|PMID:33743358 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:5419 schizophrenia ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349923 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22742743|PMID:23806237|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30117111|PMID:31589614|PMID:33743358|PMID:9536098 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9000918 Disease Progression ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9007661 Dwarfism ISO RGD:1349923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8772452 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8772465 Vwa3b von Willebrand factor A domain containing 3B gene DOID:0111614 autosomal recessive spinocerebellar ataxia 22 ISO RGD:1603168 D RGD:7240710 20190315 OMIM 8772465 Vwa3b von Willebrand factor A domain containing 3B gene DOID:0111614 autosomal recessive spinocerebellar ataxia 22 ISO RGD:1603168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22 PMID:25741868|PMID:26157035 8772465 Vwa3b von Willebrand factor A domain containing 3B gene DOID:630 genetic disease ISO RGD:1603168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772465 Vwa3b von Willebrand factor A domain containing 3B gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1603168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8772519 LOC102029408 olfactory receptor 9A2 gene DOID:630 genetic disease ISO RGD:1348029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772531 Tmem106a transmembrane protein 106A gene DOID:0080600 COVID-19 ISO RGD:1603282 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8772531 Tmem106a transmembrane protein 106A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 8772531 Tmem106a transmembrane protein 106A gene DOID:630 genetic disease ISO RGD:1603282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772531 Tmem106a transmembrane protein 106A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8772544 Cfl2 cofilin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1315906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8772544 Cfl2 cofilin 2 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1315906 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 8772544 Cfl2 cofilin 2 gene DOID:0110934 nemaline myopathy 7 ISO RGD:1315906 D RGD:7240710 20180130 OMIM 8772544 Cfl2 cofilin 2 gene DOID:0110934 nemaline myopathy 7 ISO RGD:1315906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 7 PMID:17160903|PMID:17576681|PMID:18414213|PMID:22560515|PMID:24610938|PMID:25741868|PMID:27447704|PMID:28492532|PMID:29457652|PMID:9536098 8772544 Cfl2 cofilin 2 gene DOID:3191 nemaline myopathy ISO RGD:1315906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:28492532 8772544 Cfl2 cofilin 2 gene DOID:630 genetic disease ISO RGD:1315906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772544 Cfl2 cofilin 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315906 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8772544 Cfl2 cofilin 2 gene DOID:9005532 Muscle Weakness ISO RGD:1315906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:28492532 8772562 Pik3c2g phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:0070174 spermatogenic failure 17 ISO RGD:735800 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 17 PMID:25741868|PMID:26721930|PMID:31463947|PMID:36593593|PMID:37004249 8772562 Pik3c2g phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:3393 coronary artery disease ISO RGD:735800 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Premature coronary artery atherosclerosis PMID:25741868 8772562 Pik3c2g phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:630 genetic disease ISO RGD:735800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772562 Pik3c2g phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:735800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8772562 Pik3c2g phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735800 D RGD:9068941 20200609 RGD DNA:SNP:cds:437C>T(human) PMID:17991425|REF_RGD_ID:13506796 8772604 Agmat agmatinase (putative) gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8772604 Agmat agmatinase (putative) gene DOID:630 genetic disease ISO RGD:1318183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772604 Agmat agmatinase (putative) gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 8772618 Mboat7 membrane bound O-acyltransferase domain containing 7 gene DOID:0081219 autosomal recessive intellectual developmental disorder 57 ISO RGD:1353967 D RGD:7240710 20190315 OMIM 8772618 Mboat7 membrane bound O-acyltransferase domain containing 7 gene DOID:0081219 autosomal recessive intellectual developmental disorder 57 ISO RGD:1353967 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 57 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 57 PMID:24033266|PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874 8772618 Mboat7 membrane bound O-acyltransferase domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1353967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8772618 Mboat7 membrane bound O-acyltransferase domain containing 7 gene DOID:10908 hydrocephalus ISO RGD:1551274 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8772618 Mboat7 membrane bound O-acyltransferase domain containing 7 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1353967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482880 8772618 Mboat7 membrane bound O-acyltransferase domain containing 7 gene DOID:630 genetic disease ISO RGD:1353967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27616480|PMID:31852446|PMID:33335874 8772632 Cerk ceramide kinase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8772632 Cerk ceramide kinase gene DOID:1059 intellectual disability ISO RGD:1312799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8772632 Cerk ceramide kinase gene DOID:630 genetic disease ISO RGD:1312799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772632 Cerk ceramide kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8772653 Heatr3 HEAT repeat containing 3 gene DOID:0111122 nephronophthisis 14 ISO RGD:1602884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 8772653 Heatr3 HEAT repeat containing 3 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:1602884 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:25741868|PMID:35213692 8772653 Heatr3 HEAT repeat containing 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602884 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:35213692 8772653 Heatr3 HEAT repeat containing 3 gene DOID:630 genetic disease ISO RGD:1602884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772653 Heatr3 HEAT repeat containing 3 gene DOID:9002367 Diamond-Blackfan Anemia 21 ISO RGD:1602884 D RGD:7240710 20221102 OMIM 8772653 Heatr3 HEAT repeat containing 3 gene DOID:9002367 Diamond-Blackfan Anemia 21 ISO RGD:1602884 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 PMID:25741868|PMID:35213692 8772672 Smg8 SMG8 nonsense mediated mRNA decay factor gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602698 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8772672 Smg8 SMG8 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1602698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772672 Smg8 SMG8 nonsense mediated mRNA decay factor gene DOID:9005217 ALZAHRANI-KUWAHARA SYNDROME ISO RGD:1602698 D RGD:7240710 20210512 OMIM 8772672 Smg8 SMG8 nonsense mediated mRNA decay factor gene DOID:9005217 ALZAHRANI-KUWAHARA SYNDROME ISO RGD:1602698 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alzahrani-Kuwahara syndrome PMID:25741868|PMID:33242396 8772683 Gdf9 growth differentiation factor 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736579 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8772683 Gdf9 growth differentiation factor 9 gene DOID:0080871 primary ovarian insufficiency 14 ISO RGD:736579 D RGD:7240710 20190315 OMIM 8772683 Gdf9 growth differentiation factor 9 gene DOID:0080871 primary ovarian insufficiency 14 ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 14 PMID:25741868|PMID:29044499|PMID:34008892 8772683 Gdf9 growth differentiation factor 9 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:736579 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8772683 Gdf9 growth differentiation factor 9 gene DOID:11612 polycystic ovary syndrome ISO RGD:736579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 8772683 Gdf9 growth differentiation factor 9 gene DOID:5426 primary ovarian insufficiency ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8772683 Gdf9 growth differentiation factor 9 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8772683 Gdf9 growth differentiation factor 9 gene DOID:630 genetic disease ISO RGD:736579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772683 Gdf9 growth differentiation factor 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8772683 Gdf9 growth differentiation factor 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736579 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8772690 Tmem17 transmembrane protein 17 gene DOID:0060316 orofaciodigital syndrome I ISO RGD:1321545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome I PMID:25741868|PMID:26982032 8772690 Tmem17 transmembrane protein 17 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1321545 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis 8772690 Tmem17 transmembrane protein 17 gene DOID:5419 schizophrenia ISO RGD:1321545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8772690 Tmem17 transmembrane protein 17 gene DOID:630 genetic disease ISO RGD:1321545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772690 Tmem17 transmembrane protein 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8772718 Atp5f1e ATP synthase F1 subunit epsilon gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1346801 D RGD:7240710 20180130 OMIM 8772718 Atp5f1e ATP synthase F1 subunit epsilon gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1346801 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 PMID:20566710|PMID:34954817 8772718 Atp5f1e ATP synthase F1 subunit epsilon gene DOID:9000392 Fluoride Poisoning ISO RGD:621374 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart, mitochondrion (rat) PMID:21251948|REF_RGD_ID:5131501 8772730 Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1316306 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8772730 Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1316306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8772730 Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing gene DOID:630 genetic disease ISO RGD:1316306 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772776 Acrv1 acrosomal vesicle protein 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8772776 Acrv1 acrosomal vesicle protein 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8772776 Acrv1 acrosomal vesicle protein 1 gene DOID:10283 prostate cancer ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8772776 Acrv1 acrosomal vesicle protein 1 gene DOID:5419 schizophrenia ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8772776 Acrv1 acrosomal vesicle protein 1 gene DOID:630 genetic disease ISO RGD:1351105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772776 Acrv1 acrosomal vesicle protein 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8772776 Acrv1 acrosomal vesicle protein 1 gene DOID:9007661 Dwarfism ISO RGD:1351105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8772790 Cib3 calcium and integrin binding family member 3 gene DOID:630 genetic disease ISO RGD:1312677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772801 Itpa inosine triphosphatase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348154 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:26224535 8772801 Itpa inosine triphosphatase gene DOID:0080458 developmental and epileptic encephalopathy 35 ISO RGD:1348154 D RGD:7240710 20180130 OMIM 8772801 Itpa inosine triphosphatase gene DOID:0080458 developmental and epileptic encephalopathy 35 ISO RGD:1348154 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 35 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35 PMID:12384777|PMID:16199547|PMID:20173735|PMID:20547162|PMID:21274861|PMID:22992668|PMID:25741868|PMID:26224535|PMID:26438033|PMID:26441325|PMID:26670100|PMID:28492532|PMID:30542205|PMID:30856165|PMID:32129147|PMID:35098521 8772801 Itpa inosine triphosphatase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348154 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy PMID:26224535|PMID:28492532 8772801 Itpa inosine triphosphatase gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1348154 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8772801 Itpa inosine triphosphatase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348154 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:26224535 8772801 Itpa inosine triphosphatase gene DOID:13714 anodontia ISO RGD:1348154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:25741868|PMID:26224535|PMID:28492532|PMID:30856165 8772801 Itpa inosine triphosphatase gene DOID:1588 thrombocytopenia ISO RGD:1348154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18662289 8772801 Itpa inosine triphosphatase gene DOID:1588 thrombocytopenia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) PMID:24519039|REF_RGD_ID:10766473 8772801 Itpa inosine triphosphatase gene DOID:1826 epilepsy ISO RGD:1348154 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8772801 Itpa inosine triphosphatase gene DOID:1883 hepatitis C disease_progression ISO RGD:1348154 D RGD:9068941 20200609 RGD DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) PMID:24519039|REF_RGD_ID:10766473 8772801 Itpa inosine triphosphatase gene DOID:2355 anemia ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic:DNA:SNP: :rs1127354 (human) PMID:22571903|REF_RGD_ID:14975306 8772801 Itpa inosine triphosphatase gene DOID:2355 anemia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic:DNA:SNPs: :rs7270101, rs1127354 (human) PMID:26154744|REF_RGD_ID:11074414 8772801 Itpa inosine triphosphatase gene DOID:2566 corneal dystrophy ISO RGD:1348154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy 8772801 Itpa inosine triphosphatase gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1348154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8772801 Itpa inosine triphosphatase gene DOID:583 hemolytic anemia ISO RGD:1348154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20547162 8772801 Itpa inosine triphosphatase gene DOID:583 hemolytic anemia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNPs: :rs1127354, rs6051702, rs7270101 (human) PMID:23933495|REF_RGD_ID:10766479 8772801 Itpa inosine triphosphatase gene DOID:583 hemolytic anemia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Hepatitis C;DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human) PMID:21274861|REF_RGD_ID:10766472 8772801 Itpa inosine triphosphatase gene DOID:630 genetic disease ISO RGD:1348154 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26224535|PMID:28492532|PMID:30856165 8772801 Itpa inosine triphosphatase gene DOID:655 inherited metabolic disorder ISO RGD:1348154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12384777|PMID:20547162 8772801 Itpa inosine triphosphatase gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD DNA:SNP: :94C>A(human) PMID:29441893|REF_RGD_ID:14975307 8772801 Itpa inosine triphosphatase gene DOID:9002801 Recurrence ISO RGD:1348154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23029095 8772801 Itpa inosine triphosphatase gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia ISO RGD:1348154 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) PMID:18685564|REF_RGD_ID:10766478 8772801 Itpa inosine triphosphatase gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1348154 D RGD:7240710 20180130 OMIM 8772801 Itpa inosine triphosphatase gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1348154 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY | ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:11278832|PMID:12384777|PMID:12436200|PMID:16199547|PMID:17576681|PMID:19631656|PMID:20173735|PMID:20547162|PMID:20637204|PMID:21246582|PMID:21274861|PMID:21503919|PMID:22992668|PMID:23707372|PMID:23730840|PMID:25741868|PMID:26071337|PMID:26224535|PMID:26438033|PMID:26441325|PMID:26670100|PMID:26916827|PMID:27833958|PMID:28492532|PMID:30542205|PMID:30856165|PMID:32129147|PMID:32405030|PMID:33593863|PMID:34989426|PMID:35098521|PMID:9536098 8772801 Itpa inosine triphosphatase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1348154 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:22009189|REF_RGD_ID:10766474 8772801 Itpa inosine triphosphatase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1348154 D RGD:9068941 20200609 RGD DNA:SNPs:exon:94C>A, 138G>A (human) PMID:22009189|REF_RGD_ID:10766474 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1314941 D RGD:9068941 20231116 RGD DNA:SNP:3���-UTR:G>T(rs1640299)(human) PMID:25495208|REF_RGD_ID:401900681 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314941 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314941 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:1059 intellectual disability ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:11198 DiGeorge syndrome ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:11372 megacolon ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:12583 velocardiofacial syndrome ISO RGD:1314941 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:12849 autistic disorder ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:150 disease of mental health ISO RGD:1314941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18469815 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:1826 epilepsy ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:2154 nephroblastoma ISO RGD:1314941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:2213 hemorrhagic disease ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:5419 schizophrenia ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:612 primary immunodeficiency disease ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:630 genetic disease ISO RGD:1314941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:9003871 Venous Thrombosis ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8772816 Dgcr8 DGCR8 microprocessor complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1321287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1321287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1321287 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D290V (human) PMID:23455423|REF_RGD_ID:10395280 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 ISO RGD:1321287 D RGD:7240710 20190315 OMIM 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 ISO RGD:1321287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2 PMID:11891683|PMID:16199547|PMID:17576681|PMID:23455423|PMID:25741868|PMID:28389692|PMID:28492532|PMID:29358076|PMID:9536098 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 ISO RGD:1321287 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2 PMID:11891683|PMID:16199547|PMID:17576681|PMID:23455423|PMID:25741868|PMID:27990297|PMID:28389692|PMID:28492532|PMID:29358076|PMID:9536098 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:10652 Alzheimer's disease ISO RGD:1321287 D RGD:9068941 20200609 RGD protein:decreased expression:entorhinal cortex (human) PMID:22628224|REF_RGD_ID:9999191 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:224 transient cerebral ischemia ISO RGD:1310403 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex, hippocampus (rat) PMID:20421594|REF_RGD_ID:10041006 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1321287 D RGD:9068941 20200609 RGD antibody 703D4 recognizes Hnrnpa2b1 protein (RGD:9685415);protein:increased expression:sputum (human) PMID:2846790|REF_RGD_ID:9685413 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:4905 pancreatic carcinoma severity ISO RGD:1310403 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:21472101|REF_RGD_ID:9587766 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:630 genetic disease ISO RGD:1321287 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:684 hepatocellular carcinoma ISO RGD:1310403 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23633480|REF_RGD_ID:9685423 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321287 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:20604928|REF_RGD_ID:9685422 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:1310403 D RGD:9068941 20200609 RGD PMID:18025202|REF_RGD_ID:9685481 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:9000844 Oculopharyngeal Muscular Dystrophy 2 ISO RGD:1321287 D RGD:7240710 20230809 OMIM 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:9000844 Oculopharyngeal Muscular Dystrophy 2 ISO RGD:1321287 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy 2 PMID:28492532|PMID:35484142 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310403 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder (rat) PMID:18337374|REF_RGD_ID:9685410 8772855 Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 gene DOID:9255 frontotemporal dementia ISO RGD:1321287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23455423|PMID:25741868 8772909 Pld5 phospholipase D family member 5 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603543 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8772909 Pld5 phospholipase D family member 5 gene DOID:0111261 fumarase deficiency ISO RGD:1603543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 8772909 Pld5 phospholipase D family member 5 gene DOID:12849 autistic disorder ISO RGD:1603543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 8772909 Pld5 phospholipase D family member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1603543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8772909 Pld5 phospholipase D family member 5 gene DOID:630 genetic disease ISO RGD:1603543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772909 Pld5 phospholipase D family member 5 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1603543 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 8772909 Pld5 phospholipase D family member 5 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1603543 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:20835237|PMID:28492532 8772909 Pld5 phospholipase D family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8772909 Pld5 phospholipase D family member 5 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1603543 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 8772909 Pld5 phospholipase D family member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8772923 Slc7a9 solute carrier family 7 member 9 gene DOID:0080322 polycystic kidney disease ISO RGD:734403 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:25741868 8772923 Slc7a9 solute carrier family 7 member 9 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8772923 Slc7a9 solute carrier family 7 member 9 gene DOID:557 kidney disease ISO RGD:734403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 8772923 Slc7a9 solute carrier family 7 member 9 gene DOID:630 genetic disease ISO RGD:734403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772923 Slc7a9 solute carrier family 7 member 9 gene DOID:9266 cystinuria ISO RGD:734403 D RGD:7240710 20180130 OMIM 8772923 Slc7a9 solute carrier family 7 member 9 gene DOID:9266 cystinuria ISO RGD:734403 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: SLC7A9-related condition PMID:10471498|PMID:11013083|PMID:11157794|PMID:11260385|PMID:11748844|PMID:12036192|PMID:12234283|PMID:12234930|PMID:12239244|PMID:12371955|PMID:12820697|PMID:15635077|PMID:15670723|PMID:16138908|PMID:16199547|PMID:16225397|PMID:16374432|PMID:16609684|PMID:16834950|PMID:16838140|PMID:17539912|PMID:17576681|PMID:18414213|PMID:18947684|PMID:19782624|PMID:21255007|PMID:21677404|PMID:21681106|PMID:22480232|PMID:23532419|PMID:24033266|PMID:25109415|PMID:25296721|PMID:25599739|PMID:25741868|PMID:25964309|PMID:26123750|PMID:28492532|PMID:28646536|PMID:28717662|PMID:28812535|PMID:32133030|PMID:33262960|PMID:33349102|PMID:33377691|PMID:33532864|PMID:33964006|PMID:34805638|PMID:6031738|PMID:9536098 8772962 Ark2c arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:0060356 Vici syndrome ISO RGD:1343595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8772962 Ark2c arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:0080600 COVID-19 ISO RGD:1343595 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8772962 Ark2c arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:1059 intellectual disability ISO RGD:1343595 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8772962 Ark2c arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:630 genetic disease ISO RGD:1343595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772962 Ark2c arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1343595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0080431 developmental and epileptic encephalopathy 19 ISO RGD:730902 D RGD:7240710 20240313 OMIM 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0080431 developmental and epileptic encephalopathy 19 ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19 PMID:16718694|PMID:18414213|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28492532|PMID:28554332|PMID:29389947|PMID:29655203|PMID:32047208|PMID:32238909 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0111314 idiopathic generalized epilepsy 13 ISO RGD:730902 D RGD:7240710 20240313 OMIM 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:0111314 idiopathic generalized epilepsy 13 ISO RGD:730902 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 PMID:11992121|PMID:16530959|PMID:16569738|PMID:18414213|PMID:18534981|PMID:20551311|PMID:21714819|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:28251550|PMID:28492532|PMID:28837158|PMID:29655203 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:10003 sensorineural hearing loss ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28492532 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1059 intellectual disability ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:12849 autistic disorder ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18821008 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:13413 hepatic encephalopathy ISO RGD:61855 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:15929193|REF_RGD_ID:6480237 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:13413 hepatic encephalopathy ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15929193 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1825 childhood absence epilepsy ISO RGD:730902 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 PMID:16718694|PMID:25741868|PMID:28492532 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1826 epilepsy ISO RGD:730902 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure PMID:16530959|PMID:16569738|PMID:18414213|PMID:24623842|PMID:24909990|PMID:25741868|PMID:26467025|PMID:27353043|PMID:27521439|PMID:28251550|PMID:28492532|PMID:29655203 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1826 epilepsy ISO RGD:730902 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27353043|PMID:27521439|PMID:28492532|PMID:29655203 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:730902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:16530959|PMID:16569738|PMID:16718694|PMID:17576681|PMID:18414213|PMID:21703448|PMID:22190369|PMID:24623842|PMID:24811917|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28251550|PMID:28492532|PMID:28554332|PMID:28837158|PMID:28864462|PMID:29186148|PMID:29655203|PMID:31164858|PMID:32238909|PMID:9536098 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:730902 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:16530959|PMID:16569738|PMID:16718694|PMID:17576681|PMID:18414213|PMID:21703448|PMID:22190369|PMID:23934111|PMID:24623842|PMID:24811917|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28251550|PMID:28492532|PMID:28540321|PMID:28554332|PMID:28837158|PMID:28864462|PMID:29186148|PMID:29655203|PMID:31164858|PMID:31785789|PMID:32238909|PMID:35937053|PMID:37809401|PMID:9536098 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:4990 essential tremor ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15765150 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:5119 ovarian cyst ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:630 genetic disease ISO RGD:730902 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16530959|PMID:16569738|PMID:18414213|PMID:21703448|PMID:24623842|PMID:24909990|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27521439|PMID:27622563|PMID:28251550|PMID:28492532|PMID:35937053|PMID:37809401 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:9001793 Generalized Epilepsy ISO RGD:730902 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:61855 D RGD:9068941 20231230 RGD PMID:22428005|REF_RGD_ID:401940127 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:9004866 Ataxia ISO RGD:730902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12404077 8772977 Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:730902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 8772991 Tmem19 transmembrane protein 19 gene DOID:630 genetic disease ISO RGD:1351529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8772998 Nkx1-1 NK1 homeobox 1 gene DOID:1856 cherubism ISO RGD:1603306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8773016 Znf830 zinc finger protein 830 gene DOID:0080600 COVID-19 ISO RGD:1605313 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8773016 Znf830 zinc finger protein 830 gene DOID:630 genetic disease ISO RGD:1605313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773016 Znf830 zinc finger protein 830 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8773021 Cbr4 carbonyl reductase 4 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1602997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:22499340|PMID:28492532|PMID:29068549 8773021 Cbr4 carbonyl reductase 4 gene DOID:1793 pancreatic cancer ISO RGD:1602997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 PMID:25741868|PMID:28492532 8773021 Cbr4 carbonyl reductase 4 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1602997 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:17576681|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 8773021 Cbr4 carbonyl reductase 4 gene DOID:4905 pancreatic carcinoma ISO RGD:1602997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:17194196|PMID:28166811|PMID:28492532 8773021 Cbr4 carbonyl reductase 4 gene DOID:630 genetic disease ISO RGD:1602997 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8773021 Cbr4 carbonyl reductase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602997 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25741868|PMID:28492532 8773021 Cbr4 carbonyl reductase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:25741868|PMID:28166811|PMID:28492532 8773040 Clk4 CDC like kinase 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1321078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8773040 Clk4 CDC like kinase 4 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8773040 Clk4 CDC like kinase 4 gene DOID:14748 Sotos syndrome ISO RGD:1321078 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8773040 Clk4 CDC like kinase 4 gene DOID:630 genetic disease ISO RGD:1321078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773064 Phyhd1 phytanoyl-CoA dioxygenase domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8773064 Phyhd1 phytanoyl-CoA dioxygenase domain containing 1 gene DOID:630 genetic disease ISO RGD:1321250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773079 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32188678|PMID:32531858|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:34130719|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34426522|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34416374|PMID:34426522|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:33089500|PMID:33576794|PMID:34130719|PMID:34416374|PMID:34426522|PMID:34638692|PMID:35457016|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30872814|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:33089500|PMID:33576794|PMID:33749171|PMID:34130719|PMID:34148116|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34948090|PMID:35457016|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33111345|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34948090|PMID:35266249|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:24033266|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31836858|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33111345|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34948090|PMID:35266249|PMID:36314366|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:0050439 Usher syndrome ISO RGD:736503 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20591486|PMID:20596040|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26352687|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28798898|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29196752|PMID:29266521|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:30029497|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30826590|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31836858|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32176120|PMID:32188678|PMID:32319668|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32675063|PMID:32707200|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33111345|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33781268|PMID:33946315|PMID:34008892|PMID:34130719|PMID:34148116|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35672425|PMID:36011334|PMID:36314366|PMID:36460718|PMID:36909829|PMID:37322672|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:0050439 Usher syndrome susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:snps, insertion:exon, intron:multiple (human) PMID:18452394|REF_RGD_ID:8547956 8773079 Ush2a usherin gene DOID:0050534 congenital stationary night blindness ISO RGD:736503 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:34906470|PMID:36011334|PMID:36909829|PMID:9624053 8773079 Ush2a usherin gene DOID:0050563 nonsyndromic deafness ISO RGD:736503 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10729113|PMID:10909849|PMID:12525556|PMID:15823922|PMID:16199547|PMID:17085681|PMID:17405132|PMID:18641288|PMID:19683999|PMID:19737284|PMID:20497194|PMID:20507924|PMID:21487335|PMID:21569298|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24875298|PMID:24944099|PMID:25252889|PMID:2525289|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:27460420|PMID:27596865|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28894305|PMID:29986705|PMID:30311386|PMID:31231422|PMID:32036094|PMID:32531858|PMID:32747562|PMID:34008892|PMID:36909829 8773079 Ush2a usherin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736503 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10729113|PMID:10909849|PMID:20507924|PMID:25649381|PMID:25741868|PMID:28492532|PMID:30303587 8773079 Ush2a usherin gene DOID:0050572 cone-rod dystrophy ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31836858|PMID:9624053 8773079 Ush2a usherin gene DOID:0050572 cone-rod dystrophy ISO RGD:736503 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28944237|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31266775|PMID:31836858|PMID:31998945|PMID:32675063|PMID:33691693|PMID:34906470|PMID:9624053 8773079 Ush2a usherin gene DOID:0050572 cone-rod dystrophy ISO RGD:736503 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26629787|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28944237|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31266775|PMID:31817543|PMID:31836858|PMID:31998945|PMID:32675063|PMID:33691693|PMID:34906470|PMID:36011334|PMID:9624053 8773079 Ush2a usherin gene DOID:0050572 cone-rod dystrophy ISO RGD:736503 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:18665195|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:20513143|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24498627|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25262649|PMID:25333064|PMID:25404053|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25991456|PMID:26338283|PMID:26629787|PMID:26633545|PMID:26872967|PMID:26927203|PMID:27208204|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28944237|PMID:29293505|PMID:29953849|PMID:30718709|PMID:31266775|PMID:31817543|PMID:31836858|PMID:31998945|PMID:32675063|PMID:33691693|PMID:34906470|PMID:36011334|PMID:36909829|PMID:9624053 8773079 Ush2a usherin gene DOID:0050646 distal arthrogryposis ISO RGD:736503 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:34906470|PMID:36011334|PMID:36909829|PMID:9624053 8773079 Ush2a usherin gene DOID:0060041 autism spectrum disorder ISO RGD:736503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 8773079 Ush2a usherin gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8773079 Ush2a usherin gene DOID:0110360 retinitis pigmentosa 39 ISO RGD:736503 D RGD:7240710 20180130 OMIM 8773079 Ush2a usherin gene DOID:0110360 retinitis pigmentosa 39 ISO RGD:736503 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26445815|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28430325|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29785639|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29940899|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30733538|PMID:30796641|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31031587|PMID:31047384|PMID:31054281|PMID:31106028|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31766479|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602 8773079 Ush2a usherin gene DOID:0110360 retinitis pigmentosa 39 ISO RGD:736503 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:31998945|PMID:32036094|PMID:32037395|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32176120|PMID:32188678|PMID:32203226|PMID:32319668|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32767731|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33105617|PMID:33111345|PMID:33111992|PMID:33124170|PMID:33247286|PMID:33297549|PMID:33302505|PMID:33576794|PMID:33623043|PMID:33629268|PMID:33691693|PMID:33708524|PMID:33749171|PMID:33781268|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34327195|PMID:34416374|PMID:34426522|PMID:34448047|PMID:34599368|PMID:34638692|PMID:34781295|PMID:34837038|PMID:34906470|PMID:34948090|PMID:35076463|PMID:35106950|PMID:35266249|PMID:35672425|PMID:35836572|PMID:36011334|PMID:36284460|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36785559|PMID:36909829|PMID:37217489|PMID:37322672|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:0110563 autosomal dominant nonsyndromic deafness 36 ISO RGD:736503 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 36 8773079 Ush2a usherin gene DOID:0110826 Usher syndrome type 1 ISO RGD:736503 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:20301442|PMID:21569298|PMID:24033266|PMID:25741868|PMID:26667666|PMID:26927203|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30245029|PMID:32531858|PMID:34906470 8773079 Ush2a usherin gene DOID:0110827 Usher syndrome type 2 ISO RGD:736503 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:10729113|PMID:10738000|PMID:10909849|PMID:11311042|PMID:12525556|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15823922|PMID:16199547|PMID:16963483|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18452394|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20052763|PMID:20497194|PMID:20507924|PMID:20513143|PMID:21487335|PMID:21569298|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22135276|PMID:23591405|PMID:23924366|PMID:24033266|PMID:24367894|PMID:24498627|PMID:24875298|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25211151|PMID:25262649|PMID:25324289|PMID:25333064|PMID:25356976|PMID:25404053|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26629787|PMID:26927203|PMID:27032803|PMID:27160483|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27596865|PMID:28041643|PMID:28130426|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29074561|PMID:29142287|PMID:29293505|PMID:29490346|PMID:29625443|PMID:29899460|PMID:29986705|PMID:30190494|PMID:30245029|PMID:30311386|PMID:30459346|PMID:30718709|PMID:30948794|PMID:31213501|PMID:31231422|PMID:31456290|PMID:31589614|PMID:31817543|PMID:32036094|PMID:32037395|PMID:32176120|PMID:32531858|PMID:32552793|PMID:32637036|PMID:32893482|PMID:33576794|PMID:34426522|PMID:34906470|PMID:35076463|PMID:35266249|PMID:36314366|PMID:37287646|PMID:9536098 8773079 Ush2a usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human) PMID:15025721|REF_RGD_ID:8547952 8773079 Ush2a usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:insertion, deletions, snps:multiple (human) PMID:18665195|REF_RGD_ID:8547965 8773079 Ush2a usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:17405132|REF_RGD_ID:8547962 8773079 Ush2a usherin gene DOID:0110827 Usher syndrome type 2 susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:snp:intron:c.7595-2144A>G (human) PMID:22009552|REF_RGD_ID:8547985 8773079 Ush2a usherin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:28492532 8773079 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:7240710 20180130 OMIM 8773079 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32090030|PMID:32093671|PMID:32176120|PMID:32188678|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32893482|PMID:33089500 8773079 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33623043|PMID:33691693|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34203883|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34638692|PMID:34837038|PMID:35106950|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28430325|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30796641|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31031587|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395 8773079 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A PMID:32050993|PMID:32090030|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32176120|PMID:32188678|PMID:32319668|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32767731|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33111992|PMID:33124170|PMID:33297549|PMID:33576794|PMID:33623043|PMID:33691693|PMID:33781268|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34327195|PMID:34416374|PMID:34426522|PMID:34448047|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34781295|PMID:34837038|PMID:34906470|PMID:34948090|PMID:35076463|PMID:35106950|PMID:35114279|PMID:35266249|PMID:35672425|PMID:35802133|PMID:36011334|PMID:36314366|PMID:36460718|PMID:36633841|PMID:36785559|PMID:36909829|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28430325|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30796641|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31031587|PMID:31047384|PMID:31054281|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602 8773079 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16114888|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18484607|PMID:18641288|PMID:18665192|PMID:18665195|PMID:18723146|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19788668|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20544672|PMID:20591486|PMID:20596040|PMID:20613545|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21487335|PMID:21569298|PMID:21593743|PMID:21681106|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24618324|PMID:24625443|PMID:24853665|PMID:24875298|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25373420|PMID:25375654|PMID:25388789|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25474345|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25991456|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26352687|PMID:26355662|PMID:26377068|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26747767|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:26992781|PMID:27032803|PMID:27057829|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27353947|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27884173|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28181551|PMID:28224992|PMID:28281779|PMID:28430325|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28704108|PMID:28714225|PMID:28761320|PMID:28798898|PMID:28838317|PMID:28894305|PMID:28912962|PMID:28944237|PMID:28945494|PMID:28981474|PMID:28984810|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29551606|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:29986705|PMID:30029497|PMID:30073356|PMID:30081015|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30691450|PMID:30718709|PMID:30733538|PMID:30796641|PMID:30826590|PMID:30870047|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31031587|PMID:31047384|PMID:31054281|PMID:31106028|PMID:31144483|PMID:31152317|PMID:31213501|PMID:31231422|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31541171|PMID:31589614|PMID:31674169|PMID:31699113|PMID:31736247|PMID:31816670|PMID:31817543|PMID:31827275|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091 8773079 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A ISO RGD:736503 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32090030|PMID:32093671|PMID:32098976|PMID:32100970|PMID:32176120|PMID:32188678|PMID:32319668|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32707200|PMID:32747562|PMID:32767731|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33111992|PMID:33124170|PMID:33297549|PMID:33576794|PMID:33623043|PMID:33629268|PMID:33691693|PMID:33749171|PMID:33781268|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34130719|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34327195|PMID:34416374|PMID:34426522|PMID:34448047|PMID:34599368|PMID:34638692|PMID:34721897|PMID:34781295|PMID:34837038|PMID:34906470|PMID:34948090|PMID:35076463|PMID:35106950|PMID:35114279|PMID:35266249|PMID:35672425|PMID:35802133|PMID:35836572|PMID:36011334|PMID:36284460|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36633841|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37322672|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human) PMID:9624053|REF_RGD_ID:8547987 8773079 Ush2a usherin gene DOID:0110838 Usher syndrome type 2A susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:10729113|REF_RGD_ID:8547961 8773079 Ush2a usherin gene DOID:0110841 Usher syndrome type 3A ISO RGD:736503 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3A PMID:10729113|PMID:10909849|PMID:15015129|PMID:16963483|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25262649|PMID:25333064|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28492532|PMID:28944237|PMID:29293505|PMID:30718709|PMID:31817543|PMID:34906470 8773079 Ush2a usherin gene DOID:0110980 Joubert syndrome 1 ISO RGD:736503 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16963483|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29767709|PMID:30245029|PMID:31429209 8773079 Ush2a usherin gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:736503 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 3 PMID:25741868|PMID:26261414|PMID:26306921|PMID:27032803|PMID:28492532|PMID:28981474|PMID:31213501|PMID:32098976|PMID:35672425|PMID:36460718|PMID:37322672 8773079 Ush2a usherin gene DOID:10003 sensorineural hearing loss ISO RGD:736503 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:10729113|PMID:10909849|PMID:15015129|PMID:16963483|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25262649|PMID:25333064|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28492532|PMID:28944237|PMID:29293505|PMID:30718709|PMID:31817543|PMID:34906470 8773079 Ush2a usherin gene DOID:10283 prostate cancer ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8773079 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31699113|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31998945|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32581362|PMID:32646269|PMID:33105608|PMID:33111992|PMID:34031601|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:33749171|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30192042|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31960602|PMID:31980526|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:33089500|PMID:33105608|PMID:33111992|PMID:33576794|PMID:33749171|PMID:34031601|PMID:34203883|PMID:34426522|PMID:34638692|PMID:34948090|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34948090|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35672425|PMID:36314366|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:10584 retinitis pigmentosa ISO RGD:736503 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:12786748|PMID:14676276|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18463160|PMID:18484607|PMID:18641288|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301442|PMID:20301515|PMID:20309401|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20801516|PMID:21147909|PMID:21151602|PMID:21228398|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23591405|PMID:23661368|PMID:23755871|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24164807|PMID:24227914|PMID:24265693|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25445212|PMID:25468891|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26346818|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26806561|PMID:26856745|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27057829|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27460420|PMID:27596865|PMID:27957503|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:29068140|PMID:29074561|PMID:29099798|PMID:29142287|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29767709|PMID:29785639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30054919|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31213501|PMID:31266775|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31816670|PMID:31817543|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31960602|PMID:31998945|PMID:32037395|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111992|PMID:33124170|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33926394|PMID:34008892|PMID:34031601|PMID:34148116|PMID:34203883|PMID:34203967|PMID:34426522|PMID:34638692|PMID:34781295|PMID:34906470|PMID:34948090|PMID:35266249|PMID:35672425|PMID:36011334|PMID:36284460|PMID:36314366|PMID:36362125|PMID:36460718|PMID:36909829|PMID:37322672|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:missense mutation, snp:cds, intron:p.G1734R, g.IVS32+1G>A (human) PMID:20309401|REF_RGD_ID:8547963 8773079 Ush2a usherin gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C759F (human) PMID:10775529|REF_RGD_ID:8547967 8773079 Ush2a usherin gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:736503 D RGD:9068941 20200609 RGD DNA:snps, deletions, insertion:multiple (human) PMID:20507924|REF_RGD_ID:8547966 8773079 Ush2a usherin gene DOID:1432 blindness ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:15015129|PMID:15043528|PMID:15241801|PMID:15325563|PMID:16963483|PMID:18273898|PMID:20513143|PMID:21569298|PMID:24033266|PMID:24498627|PMID:24944099|PMID:25575603|PMID:25741868|PMID:26927203|PMID:27460420|PMID:28492532 8773079 Ush2a usherin gene DOID:14791 Leber congenital amaurosis ISO RGD:736503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10729113|PMID:10909849|PMID:17085681|PMID:18273898|PMID:20507924|PMID:22334370|PMID:24033266|PMID:25078356|PMID:25133751|PMID:25324289|PMID:25404053|PMID:25445212|PMID:25649381|PMID:25741868|PMID:26927203|PMID:27057829|PMID:27957503|PMID:28492532|PMID:28512305|PMID:30718709|PMID:30870047|PMID:33105608|PMID:33691693 8773079 Ush2a usherin gene DOID:1540 parathyroid carcinoma ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8773079 Ush2a usherin gene DOID:1909 melanoma ISO RGD:736503 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:10729113|PMID:10909849|PMID:20507924|PMID:25649381|PMID:28492532 8773079 Ush2a usherin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736503 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532 8773079 Ush2a usherin gene DOID:2030 anxiety disorder ISO RGD:736503 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Anxiety PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:34906470|PMID:36011334|PMID:36909829|PMID:9624053 8773079 Ush2a usherin gene DOID:4448 macular degeneration ISO RGD:736503 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:34906470|PMID:36011334|PMID:9624053 8773079 Ush2a usherin gene DOID:4448 macular degeneration ISO RGD:736503 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:34906470|PMID:36011334|PMID:36909829|PMID:9624053 8773079 Ush2a usherin gene DOID:630 genetic disease ISO RGD:736503 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090909|PMID:10729113|PMID:10775529|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:16098008|PMID:17085681|PMID:17296898|PMID:17405132|PMID:18273898|PMID:18641288|PMID:19023448|PMID:1968399|PMID:19683999|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:21151602|PMID:21738395|PMID:22004887|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22581970|PMID:23591405|PMID:23661369|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25261458|PMID:25262649|PMID:25326637|PMID:25333064|PMID:25375654|PMID:25404053|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25823529|PMID:25910913|PMID:26355662|PMID:26629787|PMID:26633545|PMID:26764160|PMID:26872967|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28653555|PMID:28944237|PMID:29283788|PMID:29588463|PMID:29912909|PMID:29953849|PMID:30718709|PMID:31836858|PMID:32188678|PMID:34906470|PMID:35076463|PMID:36011334|PMID:36909829|PMID:9624053 8773079 Ush2a usherin gene DOID:8466 retinal degeneration ISO RGD:736503 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:10729113|PMID:10909849|PMID:11311042|PMID:14970843|PMID:15025721|PMID:15241801|PMID:15325563|PMID:16963483|PMID:18273898|PMID:18641288|PMID:19683999|PMID:20507924|PMID:23940504|PMID:24033266|PMID:24944099|PMID:25649381|PMID:25741868|PMID:26806561|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33089500|PMID:34906470|PMID:34948090 8773079 Ush2a usherin gene DOID:8501 fundus dystrophy ISO RGD:736503 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10090909|PMID:10729113|PMID:10738000|PMID:10775529|PMID:10909849|PMID:11311042|PMID:11402400|PMID:12112664|PMID:12427073|PMID:12525556|PMID:14970843|PMID:15015129|PMID:15025721|PMID:15043528|PMID:15241801|PMID:15325563|PMID:15326663|PMID:15671307|PMID:15823922|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17085681|PMID:17296898|PMID:17405132|PMID:17576681|PMID:18273898|PMID:18281613|PMID:18452394|PMID:18463160|PMID:18641288|PMID:18665192|PMID:18665195|PMID:19023448|PMID:19129697|PMID:1968399|PMID:19683999|PMID:19737284|PMID:19881469|PMID:20052763|PMID:20145675|PMID:20301515|PMID:20440071|PMID:20497194|PMID:20507924|PMID:20513143|PMID:20591486|PMID:20596040|PMID:20613545|PMID:21151602|PMID:21569298|PMID:21593743|PMID:21686329|PMID:21738395|PMID:21909055|PMID:22004887|PMID:22009552|PMID:22025579|PMID:22135276|PMID:22334370|PMID:22563300|PMID:22581970|PMID:22681893|PMID:22952768|PMID:23029027|PMID:23352160|PMID:23591405|PMID:23661368|PMID:23737954|PMID:23755871|PMID:23767834|PMID:23804846|PMID:23924366|PMID:23940504|PMID:23967202|PMID:23991284|PMID:24033266|PMID:24043777|PMID:24088041|PMID:24154662|PMID:24160897|PMID:24265693|PMID:24367894|PMID:24498627|PMID:24516651|PMID:24603341|PMID:24607488|PMID:24625443|PMID:24853665|PMID:24901346|PMID:24938718|PMID:24944099|PMID:25078356|PMID:25097241|PMID:25133613|PMID:25133751|PMID:25211151|PMID:25252889|PMID:2525289|PMID:25261458|PMID:25262649|PMID:25268133|PMID:25324289|PMID:25326637|PMID:25333064|PMID:25342620|PMID:25356976|PMID:25366773|PMID:25375654|PMID:25404053|PMID:25412400|PMID:25425308|PMID:25472526|PMID:25521520|PMID:25525159|PMID:25558175|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25804404|PMID:25823529|PMID:25910913|PMID:25999674|PMID:26075083|PMID:26164827|PMID:26261414|PMID:26306921|PMID:26310143|PMID:26338283|PMID:26355662|PMID:26416264|PMID:26467025|PMID:26496393|PMID:26629787|PMID:26633545|PMID:26654877|PMID:26667666|PMID:26764160|PMID:26766544|PMID:26806561|PMID:26856745|PMID:26868535|PMID:26872967|PMID:26927203|PMID:26969326|PMID:27032803|PMID:27145477|PMID:27157150|PMID:27160483|PMID:27208204|PMID:27318125|PMID:27344577|PMID:27460420|PMID:27583663|PMID:27596865|PMID:27624628|PMID:27957503|PMID:28000701|PMID:28005958|PMID:28041643|PMID:28118666|PMID:28127548|PMID:28130426|PMID:28157192|PMID:28224992|PMID:28281779|PMID:28492532|PMID:28559085|PMID:28653555|PMID:28678594|PMID:28714225|PMID:28761320|PMID:28838317|PMID:28894305|PMID:28944237|PMID:28981474|PMID:28984810|PMID:29074561|PMID:29142287|PMID:29151245|PMID:29178603|PMID:29196752|PMID:29276052|PMID:29283788|PMID:29293505|PMID:29343940|PMID:29490346|PMID:29588463|PMID:29625443|PMID:29641573|PMID:29655801|PMID:29767709|PMID:29785639|PMID:29847639|PMID:29899460|PMID:29912909|PMID:29953849|PMID:30029497|PMID:30073356|PMID:30190494|PMID:30245029|PMID:30280194|PMID:30311386|PMID:30358468|PMID:30390381|PMID:30459346|PMID:30543658|PMID:30718709|PMID:30796641|PMID:30872814|PMID:30902645|PMID:30924848|PMID:30948794|PMID:31047384|PMID:31054281|PMID:31152317|PMID:31213501|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31699113|PMID:31736247|PMID:31817543|PMID:31836858|PMID:31872526|PMID:31877679|PMID:31904091|PMID:31960602|PMID:31998945|PMID:32036094|PMID:32037395|PMID:32050993|PMID:32093671|PMID:32098976|PMID:32176120|PMID:32188678|PMID:32467589|PMID:32531858|PMID:32552793|PMID:32579692|PMID:32581362|PMID:32637036|PMID:32646269|PMID:32675063|PMID:32893482|PMID:33089500|PMID:33090715|PMID:33105608|PMID:33111345|PMID:33111992|PMID:33576794|PMID:33691693|PMID:33926394|PMID:33946315|PMID:34008892|PMID:34031601|PMID:34203883|PMID:34203967|PMID:34416374|PMID:34426522|PMID:34599368|PMID:34721897|PMID:34837038|PMID:34906470|PMID:34948090|PMID:35076463|PMID:35106950|PMID:35266249|PMID:35672425|PMID:35836572|PMID:36011334|PMID:36314366|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37322672|PMID:9536098|PMID:9624053 8773079 Ush2a usherin gene DOID:9002775 Cognitive Dysfunction ISO RGD:736503 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:34906470|PMID:36011334|PMID:36909829|PMID:9624053 8773079 Ush2a usherin gene DOID:9003171 Primary Dysautonomias ISO RGD:736503 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Dysautonomia PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:34906470|PMID:36011334|PMID:36909829|PMID:9624053 8773079 Ush2a usherin gene DOID:9004538 Hearing Loss ISO RGD:736503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10729113|PMID:10909849|PMID:14970843|PMID:15015129|PMID:15241801|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25262649|PMID:25333064|PMID:25342620|PMID:25366773|PMID:25575603|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26467025|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29151245|PMID:29293505|PMID:30192042|PMID:30245029|PMID:30311386|PMID:30718709|PMID:30872814|PMID:31054281|PMID:32037395|PMID:32531858|PMID:33089500 8773079 Ush2a usherin gene DOID:9004538 Hearing Loss ISO RGD:736503 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10729113|PMID:10909849|PMID:14970843|PMID:15015129|PMID:15241801|PMID:16098008|PMID:16199547|PMID:16963483|PMID:17405132|PMID:18273898|PMID:18463160|PMID:18641288|PMID:19683999|PMID:19881469|PMID:20507924|PMID:21569298|PMID:22004887|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25262649|PMID:25333064|PMID:25342620|PMID:25366773|PMID:25575603|PMID:2564938|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26467025|PMID:26927203|PMID:27460420|PMID:28041643|PMID:28157192|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29151245|PMID:29293505|PMID:30245029|PMID:30311386|PMID:30718709|PMID:30872814|PMID:31054281|PMID:31817543|PMID:32037395|PMID:32531858|PMID:34906470 8773079 Ush2a usherin gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:736503 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 PMID:10729113|PMID:10909849|PMID:19881469|PMID:20507924|PMID:24033266|PMID:25649381|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28559085 8773079 Ush2a usherin gene DOID:9007661 Dwarfism ISO RGD:736503 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Short stature PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:34906470|PMID:36011334|PMID:36909829|PMID:9624053 8773079 Ush2a usherin gene DOID:9008520 Chronic Pain ISO RGD:736503 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Chronic pain PMID:10090909|PMID:10729113|PMID:10909849|PMID:11402400|PMID:12112664|PMID:12525556|PMID:14970843|PMID:15025721|PMID:15325563|PMID:15326663|PMID:17405132|PMID:18641288|PMID:19881469|PMID:20145675|PMID:20301515|PMID:20507924|PMID:22135276|PMID:22581970|PMID:23924366|PMID:24033266|PMID:24088041|PMID:24160897|PMID:24607488|PMID:24944099|PMID:25097241|PMID:25404053|PMID:25649381|PMID:25741868|PMID:26629787|PMID:26633545|PMID:26872967|PMID:28041643|PMID:28492532|PMID:29953849|PMID:30718709|PMID:31836858|PMID:34906470|PMID:36011334|PMID:36909829|PMID:9624053 8773079 Ush2a usherin gene DOID:9008681 Deafness ISO RGD:736503 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness PMID:10729113|PMID:10909849|PMID:20507924|PMID:25649381|PMID:25741868|PMID:28492532|PMID:30303587 8773079 Ush2a usherin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8773156 Fam25a family with sequence similarity 25 member A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1347345 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8773156 Fam25a family with sequence similarity 25 member A gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1347345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8773156 Fam25a family with sequence similarity 25 member A gene DOID:630 genetic disease ISO RGD:1347345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773163 Rfpl4b ret finger protein like 4B gene DOID:0060163 body dysmorphic disorder ISO RGD:1606355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8773163 Rfpl4b ret finger protein like 4B gene DOID:630 genetic disease ISO RGD:1606355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773171 Foxi2 forkhead box I2 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1602262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8773171 Foxi2 forkhead box I2 gene DOID:630 genetic disease ISO RGD:1602262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773177 Klc1 kinesin light chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8773177 Klc1 kinesin light chain 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1352040 D RGD:9068941 20200609 RGD DNA:SNP:intron:56836G>C (human) PMID:15364413|REF_RGD_ID:5684007 8773177 Klc1 kinesin light chain 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1352040 D RGD:9068941 20200609 RGD DNA:SNPs: :rs8007903, rs3212079 (human) PMID:19911314|REF_RGD_ID:5683908 8773177 Klc1 kinesin light chain 1 gene DOID:1612 breast cancer ISO RGD:1352040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:12023982 8773177 Klc1 kinesin light chain 1 gene DOID:2378 relapsing-remitting multiple sclerosis susceptibility ISO RGD:1352040 D RGD:9068941 20200609 RGD DNA:SNP:intron:56836G>C (rs8702) (human) PMID:17999208|REF_RGD_ID:5684008 8773177 Klc1 kinesin light chain 1 gene DOID:2394 ovarian cancer ISO RGD:1352040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8773177 Klc1 kinesin light chain 1 gene DOID:630 genetic disease ISO RGD:1352040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773177 Klc1 kinesin light chain 1 gene DOID:6846 familial melanoma ISO RGD:1352040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 PMID:11059748|PMID:28492532 8773177 Klc1 kinesin light chain 1 gene DOID:9001620 Leukoaraiosis ISO RGD:1352040 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism:intron:5836G>C(human) PMID:17917076|REF_RGD_ID:5683912 8773177 Klc1 kinesin light chain 1 gene DOID:9001620 Leukoaraiosis ISO RGD:1352040 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphisms:5'utr:185A>C,406C>T (human) PMID:17977659|REF_RGD_ID:5683914 8773177 Klc1 kinesin light chain 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352040 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 8773230 Ppp1cb protein phosphatase 1 catalytic subunit beta gene DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 ISO RGD:731669 D RGD:7240710 20190315 OMIM 8773230 Ppp1cb protein phosphatase 1 catalytic subunit beta gene DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 ISO RGD:731669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition PMID:24033266|PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30236064|PMID:30348783|PMID:31474318|PMID:33333793|PMID:33491856 8773230 Ppp1cb protein phosphatase 1 catalytic subunit beta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:731669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8773230 Ppp1cb protein phosphatase 1 catalytic subunit beta gene DOID:2785 Dandy-Walker syndrome ISO RGD:731669 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30348783|PMID:31474318|PMID:33491856 8773230 Ppp1cb protein phosphatase 1 catalytic subunit beta gene DOID:3490 Noonan syndrome ISO RGD:731669 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30348783|PMID:31474318|PMID:33491856 8773230 Ppp1cb protein phosphatase 1 catalytic subunit beta gene DOID:630 genetic disease ISO RGD:731669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:25741869|PMID:27264673|PMID:27681385|PMID:27868344|PMID:28211982|PMID:28492532|PMID:30236064|PMID:30348783|PMID:30577886|PMID:31474318|PMID:33333793|PMID:33491856|PMID:9536098 8773245 Pon1 paraoxonase 1 gene DOID:0014667 disease of metabolism ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28396702 8773245 Pon1 paraoxonase 1 gene DOID:0050731 vitamin B12 deficiency ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:22568797|REF_RGD_ID:11553830 8773245 Pon1 paraoxonase 1 gene DOID:0060058 lymphoma ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22800774 8773245 Pon1 paraoxonase 1 gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:12139735|REF_RGD_ID:11553822 8773245 Pon1 paraoxonase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17204329 8773245 Pon1 paraoxonase 1 gene DOID:0060669 cerebral cavernous malformation susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:26122242|REF_RGD_ID:11552573 8773245 Pon1 paraoxonase 1 gene DOID:0080001 bone disease ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Multiple Myeloma;protein:increased expression:serum (human) PMID:25322877|REF_RGD_ID:11552587 8773245 Pon1 paraoxonase 1 gene DOID:0080016 spina bifida ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21031563 8773245 Pon1 paraoxonase 1 gene DOID:0080771 beta-thalassemia major ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:17617032|REF_RGD_ID:11553831 8773245 Pon1 paraoxonase 1 gene DOID:10126 keratoconus ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:23441349|REF_RGD_ID:8547774 8773245 Pon1 paraoxonase 1 gene DOID:10126 keratoconus severity ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:24148525|REF_RGD_ID:8547559 8773245 Pon1 paraoxonase 1 gene DOID:10283 prostate cancer ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:increased activity:serum (human) PMID:23768700|REF_RGD_ID:8547662 8773245 Pon1 paraoxonase 1 gene DOID:1040 chronic lymphocytic leukemia susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:26254371|REF_RGD_ID:11073982 8773245 Pon1 paraoxonase 1 gene DOID:10603 glucose intolerance ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:SNP:CDS:amino acid L55M, LL genotype PMID:11889198|REF_RGD_ID:1642628 8773245 Pon1 paraoxonase 1 gene DOID:10608 celiac disease ISO RGD:1349272 D RGD:9068941 20200609 RGD mRNA:decreased expression:duodenum PMID:17664137|REF_RGD_ID:5509924 8773245 Pon1 paraoxonase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple SNPs PMID:16319130|REF_RGD_ID:5509926 8773245 Pon1 paraoxonase 1 gene DOID:1067 open-angle glaucoma ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:16411107|REF_RGD_ID:8547552 8773245 Pon1 paraoxonase 1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:snp:cds:p.Q192R (rs662) (human) PMID:22553514|REF_RGD_ID:8547563 8773245 Pon1 paraoxonase 1 gene DOID:10763 hypertension ISO RGD:1349272 D RGD:9068941 20230923 RGD DNA:SNP: :rs705379 (human) PMID:32034489|REF_RGD_ID:401827127 8773245 Pon1 paraoxonase 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:19155603|REF_RGD_ID:8547556 8773245 Pon1 paraoxonase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:20042177|REF_RGD_ID:8547668 8773245 Pon1 paraoxonase 1 gene DOID:10923 sickle cell anemia ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity: serum (human) PMID:24508012|REF_RGD_ID:11553835 8773245 Pon1 paraoxonase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1349272 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 8773245 Pon1 paraoxonase 1 gene DOID:11123 Henoch-Schoenlein purpura susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:19967651|REF_RGD_ID:11552576 8773245 Pon1 paraoxonase 1 gene DOID:114 heart disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28396702 8773245 Pon1 paraoxonase 1 gene DOID:11713 diabetic angiopathy ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 5 PMID:11335891|PMID:11788650|PMID:11889198|PMID:11918623|PMID:9011577|PMID:9661650 8773245 Pon1 paraoxonase 1 gene DOID:11758 iron deficiency anemia ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:16684543|REF_RGD_ID:11552586 8773245 Pon1 paraoxonase 1 gene DOID:11758 iron deficiency anemia treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:26926576|REF_RGD_ID:11553834 8773245 Pon1 paraoxonase 1 gene DOID:11840 coronary artery vasospasm ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11810302 8773245 Pon1 paraoxonase 1 gene DOID:12241 beta thalassemia ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:26608512|REF_RGD_ID:11552583 8773245 Pon1 paraoxonase 1 gene DOID:12336 male infertility ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21561808|PMID:22206979 8773245 Pon1 paraoxonase 1 gene DOID:12849 autistic disorder ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027737|PMID:16297937|PMID:22490277 8773245 Pon1 paraoxonase 1 gene DOID:1287 cardiovascular system disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15169886|PMID:19152805 8773245 Pon1 paraoxonase 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:20497955|REF_RGD_ID:8547550 8773245 Pon1 paraoxonase 1 gene DOID:1307 dementia susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:snp, missense mutation, haplotype:promoter, cds:g.-107T>C, p.Q129R (human) PMID:15016430|REF_RGD_ID:1358562 8773245 Pon1 paraoxonase 1 gene DOID:13241 Behcet's disease ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:15377545|REF_RGD_ID:8547573 8773245 Pon1 paraoxonase 1 gene DOID:13548 secondary Parkinson disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457621 8773245 Pon1 paraoxonase 1 gene DOID:13580 cholestasis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8773245 Pon1 paraoxonase 1 gene DOID:13641 exfoliation syndrome ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:19628957|REF_RGD_ID:8547685 8773245 Pon1 paraoxonase 1 gene DOID:14400 capillary leak syndrome susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:snp:intron:c.75-1136G>A (rs3917490) (human) PMID:24808988|REF_RGD_ID:11553829 8773245 Pon1 paraoxonase 1 gene DOID:1596 depressive disorder ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19272368 8773245 Pon1 paraoxonase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q192R (human) PMID:17428620|REF_RGD_ID:8661246 8773245 Pon1 paraoxonase 1 gene DOID:1727 retinal vein occlusion ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:18084236|REF_RGD_ID:8547555 8773245 Pon1 paraoxonase 1 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L55M (human) PMID:23441121|REF_RGD_ID:8547547 8773245 Pon1 paraoxonase 1 gene DOID:1936 atherosclerosis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16216721|PMID:16229851|PMID:16331452|PMID:19371607|PMID:21629682|PMID:26241956 8773245 Pon1 paraoxonase 1 gene DOID:1936 atherosclerosis ISO RGD:1349272 D RGD:9068941 20200609 RGD mRNA:altered expression::human transgene expression in ApoE-KO mice was protective PMID:20182519|REF_RGD_ID:5509927 8773245 Pon1 paraoxonase 1 gene DOID:1936 atherosclerosis susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;protein:decreased activity:serum (human) PMID:21427447|REF_RGD_ID:11552582 8773245 Pon1 paraoxonase 1 gene DOID:1936 atherosclerosis treatment ISO RGD:733240 D RGD:9068941 20200609 RGD PMID:16043712|PMID:20660283|REF_RGD_ID:8547562|REF_RGD_ID:8547574 8773245 Pon1 paraoxonase 1 gene DOID:2349 arteriosclerosis ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:16627808|REF_RGD_ID:2313273 8773245 Pon1 paraoxonase 1 gene DOID:2355 anemia severity ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Gastrointestinal Neoplasms;protein:decreased activity:serum (human) PMID:18423402|REF_RGD_ID:11552571 8773245 Pon1 paraoxonase 1 gene DOID:2355 anemia treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:17324148|REF_RGD_ID:11552579 8773245 Pon1 paraoxonase 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16175651 8773245 Pon1 paraoxonase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:16380766|REF_RGD_ID:8547571 8773245 Pon1 paraoxonase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8773245 Pon1 paraoxonase 1 gene DOID:3388 periodontal disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19003935 8773245 Pon1 paraoxonase 1 gene DOID:3393 coronary artery disease ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery spasm 2, susceptibility to PMID:11238489|PMID:11810302|PMID:11888590|PMID:12082503|PMID:15241482|PMID:21170047|PMID:7916578|PMID:8098250|PMID:8675673|PMID:8770857|PMID:9215303|PMID:9385372|PMID:9443884 8773245 Pon1 paraoxonase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:10729395|REF_RGD_ID:1580196 8773245 Pon1 paraoxonase 1 gene DOID:3526 cerebral infarction susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:10729395|REF_RGD_ID:1580196 8773245 Pon1 paraoxonase 1 gene DOID:3602 toxic encephalopathy ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21329748 8773245 Pon1 paraoxonase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:23267397|REF_RGD_ID:8547670 8773245 Pon1 paraoxonase 1 gene DOID:4448 macular degeneration ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:23432778|REF_RGD_ID:8547561 8773245 Pon1 paraoxonase 1 gene DOID:4448 macular degeneration no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:15488805|REF_RGD_ID:8547582 8773245 Pon1 paraoxonase 1 gene DOID:4448 macular degeneration no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (rs662, rs854560) (human) PMID:15774926|REF_RGD_ID:8547659 8773245 Pon1 paraoxonase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:23538572|REF_RGD_ID:8547549 8773245 Pon1 paraoxonase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:snps:promoter, 5' utr:multiple (human) PMID:22956172|REF_RGD_ID:8547551 8773245 Pon1 paraoxonase 1 gene DOID:4481 allergic rhinitis severity ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:23406590|REF_RGD_ID:8547583 8773245 Pon1 paraoxonase 1 gene DOID:4491 persian gulf syndrome ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10373407 8773245 Pon1 paraoxonase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8773245 Pon1 paraoxonase 1 gene DOID:576 proteinuria ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased activity:serum (human) PMID:9591753|REF_RGD_ID:8547663 8773245 Pon1 paraoxonase 1 gene DOID:5844 myocardial infarction ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:10610741|PMID:10978258|REF_RGD_ID:1580198|REF_RGD_ID:1580202 8773245 Pon1 paraoxonase 1 gene DOID:6000 congestive heart failure ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8773245 Pon1 paraoxonase 1 gene DOID:630 genetic disease ISO RGD:1349272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773245 Pon1 paraoxonase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349272 D RGD:9068941 20220901 RGD mRNA:decreased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8773245 Pon1 paraoxonase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16055108 8773245 Pon1 paraoxonase 1 gene DOID:7693 abdominal aortic aneurysm susceptibility ISO RGD:1349272 D RGD:9068941 20230831 RGD DNA:SNPs, haplotypes:exon:(rs854660,rs662,rs3917594) (human) PMID:18635682|REF_RGD_ID:329853746 8773245 Pon1 paraoxonase 1 gene DOID:7998 hyperthyroidism ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14678291 8773245 Pon1 paraoxonase 1 gene DOID:83 cataract ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased activity:eye, lens (human) PMID:19439227|REF_RGD_ID:8547553 8773245 Pon1 paraoxonase 1 gene DOID:8577 ulcerative colitis ISO RGD:1349272 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:17664137|REF_RGD_ID:5509924 8773245 Pon1 paraoxonase 1 gene DOID:8778 Crohn's disease ISO RGD:1349272 D RGD:9068941 20200609 RGD mRNA:decreased expression:terminal ileum PMID:17664137|REF_RGD_ID:5509924 8773245 Pon1 paraoxonase 1 gene DOID:8947 diabetic retinopathy ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20012460|PMID:9661650 8773245 Pon1 paraoxonase 1 gene DOID:8947 diabetic retinopathy ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human) PMID:20012460|REF_RGD_ID:8547537 8773245 Pon1 paraoxonase 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:g.-907C>G (human) PMID:16949520|REF_RGD_ID:2313272 8773245 Pon1 paraoxonase 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) PMID:15270786|REF_RGD_ID:8547548 8773245 Pon1 paraoxonase 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human) PMID:24100645|REF_RGD_ID:8547572 8773245 Pon1 paraoxonase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620062 D RGD:9068941 20200609 RGD PMID:12897486|REF_RGD_ID:8547682 8773245 Pon1 paraoxonase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1349272 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 8773245 Pon1 paraoxonase 1 gene DOID:9000528 Coronary Disease ISO RGD:1349272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, susceptibility to PMID:11238489|PMID:11335891|PMID:11788650|PMID:11810302|PMID:11888590|PMID:11889198|PMID:11918623|PMID:12082503|PMID:15241482|PMID:21170047|PMID:7916578|PMID:8098250|PMID:8675673|PMID:8770857|PMID:9011577|PMID:9215303|PMID:9385372|PMID:9443884|PMID:9661650 8773245 Pon1 paraoxonase 1 gene DOID:9000528 Coronary Disease no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:15214960|REF_RGD_ID:8547675 8773245 Pon1 paraoxonase 1 gene DOID:9000528 Coronary Disease severity ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19005291|REF_RGD_ID:2313267 8773245 Pon1 paraoxonase 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16229851 8773245 Pon1 paraoxonase 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25463530|PMID:28396702 8773245 Pon1 paraoxonase 1 gene DOID:9001472 Nasal Polyps ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:23238704|REF_RGD_ID:8547666 8773245 Pon1 paraoxonase 1 gene DOID:9001542 Albuminuria ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, cds (human) PMID:16949520|REF_RGD_ID:2313272 8773245 Pon1 paraoxonase 1 gene DOID:9001581 Constipation ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 8773245 Pon1 paraoxonase 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26241956 8773245 Pon1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26884296 8773245 Pon1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19207863|REF_RGD_ID:2313266 8773245 Pon1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:missense mutations:cds:p.L55M, p.Q192R (rs854560, rs662) (human) PMID:24100645|REF_RGD_ID:8547572 8773245 Pon1 paraoxonase 1 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) PMID:15270786|REF_RGD_ID:8547548 8773245 Pon1 paraoxonase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12783936|PMID:15538743|PMID:21716162 8773245 Pon1 paraoxonase 1 gene DOID:9002564 Arteritis ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 8773245 Pon1 paraoxonase 1 gene DOID:9002661 Diabetes Complications ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19003935 8773245 Pon1 paraoxonase 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002382 8773245 Pon1 paraoxonase 1 gene DOID:9003996 Birth Weight ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17237730 8773245 Pon1 paraoxonase 1 gene DOID:9004968 Yin Deficiency ISO RGD:620062 D RGD:9068941 20220908 RGD protein:decreased expression:serum PMID:27843478|REF_RGD_ID:153350089 8773245 Pon1 paraoxonase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16323636 8773245 Pon1 paraoxonase 1 gene DOID:9005292 Organophosphate Poisoning ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11022865|PMID:20581384|PMID:20981111|PMID:23123254|PMID:24326413|PMID:26340881|PMID:28070599 8773245 Pon1 paraoxonase 1 gene DOID:9005463 Occupational Diseases ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22800774 8773245 Pon1 paraoxonase 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523|PMID:16238680 8773245 Pon1 paraoxonase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:18358245|REF_RGD_ID:2313268 8773245 Pon1 paraoxonase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733240 D RGD:9068941 20200609 RGD PMID:18358245|REF_RGD_ID:2313268 8773245 Pon1 paraoxonase 1 gene DOID:9006532 Hematologic Neoplasms ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22800774 8773245 Pon1 paraoxonase 1 gene DOID:9006532 Hematologic Neoplasms susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:22800774|REF_RGD_ID:11552572 8773245 Pon1 paraoxonase 1 gene DOID:9006538 Agricultural Workers' Diseases ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15982977|PMID:18430447 8773245 Pon1 paraoxonase 1 gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:620062 D RGD:9068941 20230831 RGD PMID:23644946|REF_RGD_ID:401794573 8773245 Pon1 paraoxonase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21573798 8773245 Pon1 paraoxonase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum PMID:14602783|REF_RGD_ID:1642618 8773245 Pon1 paraoxonase 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26839999 8773245 Pon1 paraoxonase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8773245 Pon1 paraoxonase 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002382 8773245 Pon1 paraoxonase 1 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15324535 8773245 Pon1 paraoxonase 1 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:620062 D RGD:9068941 20200609 RGD PMID:11015468|REF_RGD_ID:731237 8773245 Pon1 paraoxonase 1 gene DOID:9007571 Hyperlipoproteinemias treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:15324535|REF_RGD_ID:8547684 8773245 Pon1 paraoxonase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.L55M (human), LL genotype (P < 0.001) PMID:11788650|REF_RGD_ID:1642617 8773245 Pon1 paraoxonase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349272 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31004929 8773245 Pon1 paraoxonase 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17292331|PMID:19028542 8773245 Pon1 paraoxonase 1 gene DOID:9351 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16229851|PMID:19022366 8773245 Pon1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q192R (human) PMID:18290860|REF_RGD_ID:2313269 8773245 Pon1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17949258|REF_RGD_ID:2313270 8773245 Pon1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19328014|REF_RGD_ID:2307252 8773245 Pon1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:9591753|REF_RGD_ID:8547663 8773245 Pon1 paraoxonase 1 gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:1349272 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy;DNA:missense mutations:cds:p.L55M, p.Q192R (human) PMID:10677395|REF_RGD_ID:8547560 8773245 Pon1 paraoxonase 1 gene DOID:9452 steatotic liver disease ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26945512 8773245 Pon1 paraoxonase 1 gene DOID:9538 multiple myeloma severity ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased activity:serum (human) PMID:25520116|REF_RGD_ID:11552578 8773245 Pon1 paraoxonase 1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q192R (human) PMID:15136237|REF_RGD_ID:10450846 8773245 Pon1 paraoxonase 1 gene DOID:9538 multiple myeloma treatment ISO RGD:1349272 D RGD:9068941 20200609 RGD PMID:22348216|REF_RGD_ID:11040544 8773245 Pon1 paraoxonase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349272 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17949258|REF_RGD_ID:2313270 8773245 Pon1 paraoxonase 1 gene DOID:9746 hemorrhoid ISO RGD:1349272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 8773245 Pon1 paraoxonase 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1349272 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) PMID:22976839|REF_RGD_ID:11552580 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343626 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:23280334|REF_RGD_ID:11039052 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1553658 D RGD:9068941 20220825 MouseDO OMIM:614286 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:0060597 atypical chronic myeloid leukemia ISO RGD:1343626 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1343626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:305 carcinoma ISO RGD:1343626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1343626 D RGD:9068941 20210917 RGD protein:increased expression:lung epithelium,nucleus PMID:23071587|REF_RGD_ID:150429662 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343626 D RGD:9068941 20210917 RGD protein:increased expression:lung epithelium,nucleus PMID:23071587|REF_RGD_ID:150429662 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1343626 D RGD:9068941 20210917 RGD PMID:23071587|REF_RGD_ID:150429662 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1343626 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:5410 pulmonary neuroendocrine tumor ISO RGD:1343626 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:23518498|REF_RGD_ID:11039050 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:6000 congestive heart failure disease_progression ISO RGD:1343626 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:630 genetic disease ISO RGD:1343626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:678 progressive supranuclear palsy ISO RGD:1343626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25402454 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1553658 D RGD:9068941 20210917 RGD PMID:32372053|REF_RGD_ID:150429663 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343626 D RGD:9068941 20210917 RGD PMID:29278882|REF_RGD_ID:150429692 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1343626 D RGD:9068941 20210917 RGD PMID:28082404|REF_RGD_ID:150429666 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:1343626 D RGD:9068941 20210917 RGD associated with hepatocellular carcinoma PMID:29278882|REF_RGD_ID:150429692 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1343626 D RGD:9068941 20200609 RGD mRNA:increased expression:head and neck (human) PMID:21764905|REF_RGD_ID:11039047 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1343626 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8773270 Srsf2 serine and arginine rich splicing factor 2 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1343626 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:22431577|REF_RGD_ID:11039017 8773277 Dmap1 DNA methyltransferase 1 associated protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8773277 Dmap1 DNA methyltransferase 1 associated protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8773277 Dmap1 DNA methyltransferase 1 associated protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8773277 Dmap1 DNA methyltransferase 1 associated protein 1 gene DOID:1826 epilepsy ISO RGD:1322676 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8773277 Dmap1 DNA methyltransferase 1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1322676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773277 Dmap1 DNA methyltransferase 1 associated protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1322676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 8773316 Wdcp WD repeat and coiled coil containing gene DOID:630 genetic disease ISO RGD:1601962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773330 Scube2 signal peptide, CUB domain and EGF like domain containing 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1352842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 8773330 Scube2 signal peptide, CUB domain and EGF like domain containing 2 gene DOID:630 genetic disease ISO RGD:1352842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773382 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1059 intellectual disability ISO RGD:732651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 8773382 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1825 childhood absence epilepsy ISO RGD:732651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood absence epilepsy PMID:28492532 8773382 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1826 epilepsy ISO RGD:732651 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8773382 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16718694|PMID:22190369|PMID:24811917|PMID:28492532 8773382 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:3525 middle cerebral artery infarction ISO RGD:732651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 8773382 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:5419 schizophrenia ISO RGD:732651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 8773382 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:630 genetic disease ISO RGD:732651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773382 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:9005158 Cushing Syndrome ISO RGD:61861 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism PMID:12080446|REF_RGD_ID:1626491 8773382 Gabra6 gamma-aminobutyric acid type A receptor subunit alpha6 gene DOID:9970 obesity ISO RGD:61861 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism PMID:12080446|REF_RGD_ID:1626491 8773399 Lsp1 lymphocyte specific protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8773399 Lsp1 lymphocyte specific protein 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1314573 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8773399 Lsp1 lymphocyte specific protein 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8773399 Lsp1 lymphocyte specific protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8773399 Lsp1 lymphocyte specific protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8773399 Lsp1 lymphocyte specific protein 1 gene DOID:182 calcinosis ISO RGD:1314573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8773399 Lsp1 lymphocyte specific protein 1 gene DOID:4079 heart valve disease ISO RGD:1314573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8773399 Lsp1 lymphocyte specific protein 1 gene DOID:630 genetic disease ISO RGD:1314573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773399 Lsp1 lymphocyte specific protein 1 gene DOID:8577 ulcerative colitis ISO RGD:1314573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 8773399 Lsp1 lymphocyte specific protein 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1314573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8773399 Lsp1 lymphocyte specific protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1314573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17529967|PMID:20453838 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:0050589 inflammatory bowel disease ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15844718|REF_RGD_ID:1626117 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:0050784 primary progressive multiple sclerosis disease_progression ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15732261|REF_RGD_ID:1626118 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:19207313|REF_RGD_ID:12910858 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:0080600 COVID-19 ISO RGD:736042 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:10283 prostate cancer ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2854744, homozygous C allele associated with 2x increased risk PMID:17724372|REF_RGD_ID:2290008 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:10283 prostate cancer no_association ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter:no association with rs2854744, 440 cases and 480 related controls from Cleveland, OH and Detroit, MI PMID:15006930|REF_RGD_ID:2290012 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:10283 prostate cancer severity ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2854744 C allele associated with low grade tumors only, odds ratio=4.1 for low grade vs 1.0 for high grade PMID:17668637|REF_RGD_ID:2290015 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:10456 tonsillitis treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:27738609|REF_RGD_ID:12743605 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:10534 stomach cancer treatment ISO RGD:736042 D RGD:9068941 20220901 RGD human cells in mouse model PMID:16052530|REF_RGD_ID:153344579 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:10774 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:24964199|REF_RGD_ID:10402572 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23473966|REF_RGD_ID:10402570 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:10652 Alzheimer's disease treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:10399774|REF_RGD_ID:10402576 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21347663 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:level significantly lower in cases than controls (p<0.01), highest quartile levels associated with reduced risk (OR=0.38) PMID:12544349|REF_RGD_ID:2290028 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:11476 osteoporosis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:9284698|REF_RGD_ID:10402579 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:12241 beta thalassemia ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:9666877|REF_RGD_ID:12743604 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:12689 acoustic neuroma susceptibility ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:12849 autistic disorder ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:13025 retinopathy of prematurity ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Obstetric Labor, Premature; protein:decreased expression:plasma: PMID:23202391|REF_RGD_ID:12743584 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:14250 Down syndrome ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:9469274|REF_RGD_ID:12743600 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:1485 cystic fibrosis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:15310308|REF_RGD_ID:12743589 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:1612 breast cancer ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter,CDS:variant allele of multiple SNPs including rs2854744, associated with increased risk singly and in combination, 1,193 patients and 1,310 control Chinese women in Shanghai PMID:15298948|REF_RGD_ID:2290011 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:1612 breast cancer ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:10069662|PMID:17287408|REF_RGD_ID:2301715|REF_RGD_ID:2301716 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:1612 breast cancer no_association ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP:promoter:no association with rs2854744, 677 cases and 834 controls from the Nurses' Health Study PMID:12925957|REF_RGD_ID:2290009 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:1697 ichthyosis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:18780604|REF_RGD_ID:12743608 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:1858 McCune Albright syndrome treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:16720661|REF_RGD_ID:12743609 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:1875 impotence ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:penis PMID:21595839|REF_RGD_ID:10402765 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:1875 impotence treatment ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:24576658|REF_RGD_ID:10402763 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:2349 arteriosclerosis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15625284|REF_RGD_ID:2313768 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:2671 transitional cell carcinoma ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21347663 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17541304|REF_RGD_ID:2301466 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:3070 high grade glioma severity ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21788435|REF_RGD_ID:8548833 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:3491 Turner syndrome ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:17067837|REF_RGD_ID:12743588 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:3491 Turner syndrome treatment ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) PMID:22278433|REF_RGD_ID:12743598 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:3770 pulmonary fibrosis ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15681824|REF_RGD_ID:1626120 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:19844724|REF_RGD_ID:10402761 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:418 systemic scleroderma ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19004037|REF_RGD_ID:12743606 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:4450 renal cell carcinoma ISO RGD:736042 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tumor:27/43 (63%) by cDNA microarray, 43/58 (74%) by immunohistochemistry PMID:18076934|REF_RGD_ID:2290003 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:736042 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:skin: PMID:15140235|REF_RGD_ID:12743601 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:630 genetic disease ISO RGD:736042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:7147 ankylosing spondylitis ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:9851264|REF_RGD_ID:10402573 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:8398 osteoarthritis ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:18775662|REF_RGD_ID:10402575 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:8692 myeloid leukemia ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:blood: PMID:23716272|REF_RGD_ID:12743616 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736042 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significant decrease in cancer relative to controls (P=0.03) PMID:17709267|REF_RGD_ID:2290004 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum:significantly decreased (p<0.0001), levels inversely associated with serum IGF-II levels (p<0.01) PMID:14675666|REF_RGD_ID:2290021 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9000121 Malocclusion ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:22758598|REF_RGD_ID:10045831 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9000528 Coronary Disease ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15521962|REF_RGD_ID:1626121 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2874 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16923367|REF_RGD_ID:10402581 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:21924014|REF_RGD_ID:12743583 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta: PMID:21823995|REF_RGD_ID:12743585 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:19591553|REF_RGD_ID:12743590 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:Amniotic fluid: PMID:19217707|REF_RGD_ID:12743599 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:15506645|REF_RGD_ID:1600258 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:8619365|REF_RGD_ID:10402812 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15318950|PMID:16000583|PMID:24586243 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002407 Spinal Fractures ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Osteoporosis;protein:decreased expression:serum PMID:9258758|REF_RGD_ID:10402578 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002427 Fetal Macrosomia ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17113804|REF_RGD_ID:12743591 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002457 Experimental Arthritis ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, serum PMID:14642797|REF_RGD_ID:10402760 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:17332286|REF_RGD_ID:2301467 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:736042 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, ovary PMID:16445635|REF_RGD_ID:2301468 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum:significantly decreased (p<0.001), levels inversely associated with serum IGF-II levels (p<0.01) PMID:14675666|REF_RGD_ID:2290021 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:10709766|REF_RGD_ID:10402756 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:736042 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21636299|REF_RGD_ID:12910854 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9004265 Endometrioid Carcinomas disease_progression ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:17952116|REF_RGD_ID:2301465 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9004713 Acute-Phase Reaction treatment ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Burns PMID:10714634|REF_RGD_ID:10402777 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10774 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:16180585|REF_RGD_ID:2313766 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:penis PMID:18068478|REF_RGD_ID:2289159 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2874 D RGD:9068941 20200609 RGD PMID:25582342|REF_RGD_ID:12743617 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9005930 Endotoxemia ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, serum PMID:18492809|REF_RGD_ID:10402757 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9006008 Closed Head Injuries ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:12002507|REF_RGD_ID:8548865 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9007661 Dwarfism ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell; PMID:17396438|REF_RGD_ID:12743603 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9007692 Insulin Resistance ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:17237715|REF_RGD_ID:2313762 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736042 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:significantly lower circulating levels in 80 cases vs 80 controls (p<0.001), significantly decreased risk in the highest quartile of expression PMID:15159305|REF_RGD_ID:2290018 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9007730 Burns ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney, liver, muscle PMID:10827012|REF_RGD_ID:12910869 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9206 Barrett's esophagus ISO RGD:736042 D RGD:9068941 20200609 RGD associated with Aneuploidy; protein:increased expression:serum: PMID:18006928|REF_RGD_ID:12743582 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9271 ornithine carbamoyltransferase deficiency treatment ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:16703326|REF_RGD_ID:12743607 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:16005252|REF_RGD_ID:2313767 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:15356074|REF_RGD_ID:2313769 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9744 type 1 diabetes mellitus severity ISO RGD:736042 D RGD:9068941 20200609 RGD PMID:16887362|REF_RGD_ID:2313765 8773422 Igfbp3 insulin like growth factor binding protein 3 gene DOID:9970 obesity ISO RGD:2874 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreatic fat pad PMID:22067319|REF_RGD_ID:10402755 8773434 Hsp90b1 heat shock protein 90 beta family member 1 gene DOID:0112312 male infertility due to globozoospermia ISO RGD:1321410 D RGD:9068941 20220825 MouseDO 8773434 Hsp90b1 heat shock protein 90 beta family member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1321409 D RGD:9068941 20220812 RGD mRNA:increased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 8773434 Hsp90b1 heat shock protein 90 beta family member 1 gene DOID:630 genetic disease ISO RGD:1321409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773434 Hsp90b1 heat shock protein 90 beta family member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 8773434 Hsp90b1 heat shock protein 90 beta family member 1 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1321410 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 8773472 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8773472 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1601761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8773472 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1601761 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8773472 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1601761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8773472 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1601761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8773472 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8773472 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1601761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773472 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601761 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8773472 Sit1 signaling threshold regulating transmembrane adaptor 1 gene DOID:9870 galactosemia ISO RGD:1601761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8773485 Foxp4 forkhead box P4 gene DOID:0050444 infantile Refsum disease ISO RGD:1322820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8773485 Foxp4 forkhead box P4 gene DOID:10003 sensorineural hearing loss ISO RGD:1322820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 8773485 Foxp4 forkhead box P4 gene DOID:3910 lung adenocarcinoma ISO RGD:1322820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8773485 Foxp4 forkhead box P4 gene DOID:6000 congestive heart failure ISO RGD:1322820 D RGD:9068941 20200609 RGD PMID:16952980|REF_RGD_ID:1582564 8773485 Foxp4 forkhead box P4 gene DOID:630 genetic disease ISO RGD:1322820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773485 Foxp4 forkhead box P4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20676098 8773485 Foxp4 forkhead box P4 gene DOID:9008086 Developmental Disabilities ISO RGD:1322820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8773485 Foxp4 forkhead box P4 gene DOID:905 Zellweger syndrome ISO RGD:1322820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8773506 Slc41a1 solute carrier family 41 member 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8773506 Slc41a1 solute carrier family 41 member 1 gene DOID:12849 autistic disorder ISO RGD:1322838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8773506 Slc41a1 solute carrier family 41 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1322838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8773506 Slc41a1 solute carrier family 41 member 1 gene DOID:630 genetic disease ISO RGD:1322838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8773506 Slc41a1 solute carrier family 41 member 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8773506 Slc41a1 solute carrier family 41 member 1 gene DOID:9006423 Nephronophthisis-like Nephropathy 2 ISO RGD:1322838 D RGD:7240710 20210818 OMIM 8773506 Slc41a1 solute carrier family 41 member 1 gene DOID:9006423 Nephronophthisis-like Nephropathy 2 ISO RGD:1322838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 2 PMID:23661805|PMID:25741868|PMID:28492532 8773506 Slc41a1 solute carrier family 41 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:28891831|REF_RGD_ID:14995457 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:0050697 chorioamnionitis severity ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:amniotic fluid PMID:19332995|REF_RGD_ID:4145137 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:0060224 atrial fibrillation ISO RGD:69095 D RGD:9068941 20230330 RGD associated with heart valve disease;protein:increased expression:right atrial myocardium PMID:33236535|REF_RGD_ID:242905189 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:0080000 muscular disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21152098 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69095 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:21664615|PMID:32613381 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:0080820 occupational asthma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:0081292 traumatic brain injury treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:28433746|REF_RGD_ID:14995478 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:69095 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:0111243 acromicric dysplasia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:10140 dry eye syndrome ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22194977 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:10283 prostate cancer ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:1289674|REF_RGD_ID:7394822 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:10322 berylliosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750822|PMID:17785866 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:10322 berylliosis severity ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-509C>T (human) PMID:17785866|REF_RGD_ID:4145294 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:10763 hypertension ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:12771048|REF_RGD_ID:12879474 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:10763 hypertension ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:vascular associated smooth muscle cell PMID:17364610|REF_RGD_ID:1601552 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:10763 hypertension ISO RGD:69051 D RGD:9068941 20200903 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) PMID:11682445|PMID:11907153|REF_RGD_ID:28912746|REF_RGD_ID:30296650 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:10763 hypertension ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11682445|PMID:19018797 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:10763 hypertension ISO RGD:69095 D RGD:9068941 20230720 RGD protein:increased expression:blood serum (human) PMID:26502942|REF_RGD_ID:329955577 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:10923 sickle cell anemia ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26928604|REF_RGD_ID:11062147 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:11168 anogenital venereal wart ISO RGD:69095 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:11204 allergic conjunctivitis treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:16914468|REF_RGD_ID:11041889 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:11263 chlamydia treatment ISO RGD:69095 D RGD:9068941 20200807 RGD PMID:30832593|REF_RGD_ID:38455984 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:11335 sarcoidosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785866 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:114 heart disease ISO RGD:69095 D RGD:9068941 20200609 RGD associated with pulmonary hypertension;mRNA:increased expression:lung, arteriole PMID:15938827|REF_RGD_ID:1601581 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:11476 osteoporosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12706579 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:11476 osteoporosis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Uremia;protein:increased expression:osteoblast, osteoclast PMID:17647196|REF_RGD_ID:10003128 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:11664 nephrosclerosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1168 familial hyperlipidemia ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex PMID:19001732|REF_RGD_ID:2306735 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Chronic Kidney Failure;mRNA:increased expression:kidney PMID:16834981|REF_RGD_ID:1601559 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1184 nephrotic syndrome ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10515446|PMID:1281619|PMID:8023968 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:22134166|REF_RGD_ID:11073617 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1205 allergic disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138248|PMID:21625544 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:12134 factor VIII deficiency treatment ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :869T>C(rs1982037)(human) PMID:25930091|REF_RGD_ID:11055683 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:12236 primary biliary cholangitis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:12306 vitiligo ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:22342018|REF_RGD_ID:8663475 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:12361 Graves' disease ISO RGD:69095 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:12449 aplastic anemia severity ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:24028718|REF_RGD_ID:11073606 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:12449 aplastic anemia susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :509C>T(human) PMID:24362456|REF_RGD_ID:11073601 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:12577 urethral obstruction treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:24066596|REF_RGD_ID:7394856 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:12894 Sjogren's syndrome ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:9358754|REF_RGD_ID:7394829 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:12894 Sjogren's syndrome ISO RGD:69096 D RGD:9068941 20220825 MouseDO OMIM:270150 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:12894 Sjogren's syndrome severity ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:7554451|REF_RGD_ID:7394845 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:12932 endomyocardial fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423|PMID:18682491|PMID:20493835 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:13141 uveitis treatment ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:9008650|REF_RGD_ID:7394815 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:13189 gout ISO RGD:69095 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36850003 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:13241 Behcet's disease ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:exon (human) PMID:21640045|REF_RGD_ID:5147902 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:24399159|REF_RGD_ID:11073604 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-509C>T (human) PMID:17785866|REF_RGD_ID:4145294 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:13413 hepatic encephalopathy treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:30940161|REF_RGD_ID:14995440 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:13608 biliary atresia treatment ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:30686515|REF_RGD_ID:14985228 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:69095 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:30026087|PMID:31932644 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:13922 eosinophilic esophagitis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:24486052|REF_RGD_ID:11073602 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1485 cystic fibrosis ISO RGD:69095 D RGD:7240710 20180130 OMIM 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1485 cystic fibrosis ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1520 colon carcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:11166150|REF_RGD_ID:13432074 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1532 pleural disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1555 urticaria ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138248 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1588 thrombocytopenia ISO RGD:69096 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:22134166|REF_RGD_ID:11073617 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1612 breast cancer ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:7543740|REF_RGD_ID:7394794 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1612 breast cancer disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:18075785|REF_RGD_ID:7394832 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1612 breast cancer no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :29T>C (human) PMID:20157775|REF_RGD_ID:7394854 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1612 breast cancer no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.L10P (human) PMID:17848193|REF_RGD_ID:7394853 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1612 breast cancer severity ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP: :rs1982073 (human) PMID:20640597|REF_RGD_ID:7394846 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1612 breast cancer susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-509 C>T (human) PMID:20232138|REF_RGD_ID:7394850 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1612 breast cancer treatment ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:2021547|REF_RGD_ID:7394824 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1724 duodenal ulcer ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12868675 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1749 squamous cell carcinoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852150 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1793 pancreatic cancer ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23992306 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:18787407|REF_RGD_ID:2325015 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16933058|REF_RGD_ID:2325018 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:182 calcinosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1826 epilepsy ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1875 impotence ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:27051243|REF_RGD_ID:14995446 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1875 impotence ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:penis PMID:18778311|REF_RGD_ID:2306738 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:1920 hyperuricemia ISO RGD:69095 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36850003 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2048 autoimmune hepatitis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:219 colon cancer treatment ISO RGD:69051 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2224 essential thrombocythemia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD Camurati-Engelmann Syndrome, OMIM:131300;DNA:missense mutations: :p.R218H, p.R218C, p.C225R (human) PMID:10973241|REF_RGD_ID:1601550 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2316 brain ischemia ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:14997937|REF_RGD_ID:2302105 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:234 colon adenocarcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:9019169|REF_RGD_ID:13432089 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2340 craniosynostosis ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2349 arteriosclerosis ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:16733295|REF_RGD_ID:1580959 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2615 papilloma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20172950 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2615 papilloma disease_progression ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:7954410|REF_RGD_ID:7394796 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:18366906|REF_RGD_ID:4145280 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365456|PMID:19138248 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:cds:915G>C (human) PMID:19046298|REF_RGD_ID:4145142 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:multiple (human) PMID:19096005|REF_RGD_ID:4145143 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: :-509C>T (human) PMID:18711258|PMID:19222424|REF_RGD_ID:4143443|REF_RGD_ID:4145299 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19317336|REF_RGD_ID:4145139 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:19620629|REF_RGD_ID:4145132 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2841 asthma ISO RGD:69096 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20485865|REF_RGD_ID:4145113 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2841 asthma no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:cds:915G>C (human) PMID:19533439|REF_RGD_ID:4145297 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2841 asthma no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:19136038|REF_RGD_ID:4145144 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2841 asthma onset ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP: :-509C>T (human) PMID:17673695|REF_RGD_ID:4145295 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69051 D RGD:9068941 20200702 RGD protein:increased expression:serum, bronchoalveolar Lavage fluid (rat) PMID:16409721|REF_RGD_ID:32726073 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:69095 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15271897|REF_RGD_ID:32716401 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11728950 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:299 adenocarcinoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17418594 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3021 acute kidney failure ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10469268 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:305 carcinoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12417722 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3082 interstitial lung disease ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum PMID:18846962|REF_RGD_ID:4145270 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:18269849|REF_RGD_ID:4145292 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365456|PMID:31349846 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19186046|REF_RGD_ID:4145140 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphisms: :509C>T, 869T>C (human) PMID:19186046|REF_RGD_ID:4145140 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:exon:869T>C (human) PMID:20193474|REF_RGD_ID:4145115 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3227 tracheal stenosis susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Ventilator-Induced Lung Injury;DNA:polymorphism: :-509C>T (human) PMID:20172396|REF_RGD_ID:4145116 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3310 atopic dermatitis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:11496247|REF_RGD_ID:7394812 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3407 carotid artery disease ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:17119348|REF_RGD_ID:1601556 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:69095 D RGD:9068941 20221027 RGD protein:decreased expression:pancreas (human) PMID:8253361|REF_RGD_ID:155630628 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:31409163|REF_RGD_ID:14995477 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:69096 D RGD:9068941 20230330 RGD PMID:28630232|REF_RGD_ID:242905192 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:16101174|REF_RGD_ID:2325019 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Silicosis PMID:19439069|REF_RGD_ID:2307220 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286001|PMID:16324872|PMID:16365456|PMID:17266442|PMID:19817698|PMID:24762191|PMID:26817844 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:18403781|REF_RGD_ID:4145279 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69096 D RGD:9068941 20200609 RGD associated with Asthma PMID:19542246|REF_RGD_ID:4145133 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69096 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20833968|REF_RGD_ID:4145112 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69096 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome;mRNA:increased expression:lung PMID:31838832|REF_RGD_ID:30309204 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:26822530|REF_RGD_ID:14995444 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:3892 insulinoma ISO RGD:69095 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreatic islet PMID:18058603|REF_RGD_ID:2325017 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4236 carcinosarcoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15132766 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:26749573|REF_RGD_ID:11560966 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood PMID:25499257|REF_RGD_ID:13506175 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:26631499|REF_RGD_ID:13506173 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4481 allergic rhinitis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:31368266|REF_RGD_ID:14995445 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4483 rhinitis ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:18423831|REF_RGD_ID:4145277 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4676 uremia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4947 cholangiocarcinoma ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:12632524|REF_RGD_ID:1299231 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16083599|REF_RGD_ID:2325020 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4971 myelofibrosis ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:plasma,bone marrow: PMID:23462118|REF_RGD_ID:11073609 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4971 myelofibrosis ISO RGD:69096 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen,bone marrow: PMID:23462118|REF_RGD_ID:11073609 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4971 myelofibrosis treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:23462118|REF_RGD_ID:11073609 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4997 Camurati-Engelmann disease ISO RGD:69095 D RGD:7240710 20180130 OMIM 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:4997 Camurati-Engelmann disease ISO RGD:69095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diaphyseal dysplasia PMID:10973241|PMID:11062463|PMID:11278244|PMID:12843182|PMID:15103729|PMID:15326622|PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:19584867|PMID:20308061|PMID:23846138|PMID:25099136|PMID:25741868|PMID:28492532|PMID:30034812 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:5082 liver cirrhosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:30686515|REF_RGD_ID:14985228 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:5082 liver cirrhosis ISO RGD:69095 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:21037076|PMID:35101388|PMID:36368619 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:5199 ureteral obstruction ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17164399 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:552 pneumonia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:552 pneumonia ISO RGD:69096 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19965809|REF_RGD_ID:4145120 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:552 pneumonia severity ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:19181604|REF_RGD_ID:4145141 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:557 kidney disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11682445|PMID:14675041|PMID:18390891 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:57 aortic valve insufficiency ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:576 proteinuria ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12937228 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:576 proteinuria ameliorates ISO RGD:69051 D RGD:9068941 20210827 RGD PMID:23249995|REF_RGD_ID:13446413 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:5773 oral submucous fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:5773 oral submucous fibrosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:10680515|REF_RGD_ID:7394849 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:5844 myocardial infarction ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:27121011|REF_RGD_ID:11073666 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:5844 myocardial infarction ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16310260 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Coronary Disease;DNA:polymorphism:promoter:-509C>T (human) PMID:16543493|REF_RGD_ID:1601560 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:585 nephrolithiasis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:24712822|REF_RGD_ID:11073675 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:630 genetic disease ISO RGD:69095 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:6432 pulmonary hypertension ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19324949|REF_RGD_ID:4145138 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:6432 pulmonary hypertension onset ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18496036|REF_RGD_ID:4145273 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:674 cleft palate ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450421 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69096 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:783 end stage renal disease ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:10919844|REF_RGD_ID:7394838 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:783 end stage renal disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:8398 osteoarthritis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:8472 localized scleroderma ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:7510487|REF_RGD_ID:7394847 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:850 lung disease ISO RGD:69051 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA, protein:increased expression:lung, plasma PMID:19639047|REF_RGD_ID:4145127 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:850 lung disease ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:increased expression:lung PMID:19941153|REF_RGD_ID:4145122 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:850 lung disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11472967 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:850 lung disease ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNPs: :rs1800469, rs1982073, rs8179181 (human PMID:18424453|REF_RGD_ID:4145276 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:850 lung disease severity ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNP:exon:869T>C (human) PMID:19466271|REF_RGD_ID:4144796 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:29951173|REF_RGD_ID:13782079 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:8616 Peyronie's disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14996430 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:874 bacterial pneumonia severity ISO RGD:69096 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:8866 actinic keratosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:9274625|REF_RGD_ID:7394827 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:8893 psoriasis severity ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15072741|REF_RGD_ID:7394851 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:69095 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:24763013|REF_RGD_ID:11073603 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:24801815|REF_RGD_ID:11073600 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:11886393|REF_RGD_ID:11073598 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:90 degenerative disc disease ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21351055 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:polymorphism: : -509C>T (human) PMID:18571008|REF_RGD_ID:2317641 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:15145083|REF_RGD_ID:2302103 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9000784 Fibrosis ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:26923362|REF_RGD_ID:11073665 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9000784 Fibrosis ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:2054795|PMID:9389733|REF_RGD_ID:737732|REF_RGD_ID:7394820 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9000784 Fibrosis ISO RGD:69095 D RGD:9068941 20240111 CTD CTD Direct Evidence: marker/mechanism PMID:10469268|PMID:16306446|PMID:17947678|PMID:18705752|PMID:24142982|PMID:26054450|PMID:27870162|PMID:30809271|PMID:37436133 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146760|PMID:23992306|PMID:26896736|PMID:31381904 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001074 Posterior Leukoencephalopathy Syndrome ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001472 Nasal Polyps ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:12761968|REF_RGD_ID:7394830 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001472 Nasal Polyps ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Rhinitis PMID:18423831|REF_RGD_ID:4145277 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001472 Nasal Polyps ISO RGD:69095 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal cavity epithelium PMID:23406597|REF_RGD_ID:7394852 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16009107|REF_RGD_ID:1601595 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12586293|PMID:15772939|PMID:16579972|PMID:26806094|PMID:27605418 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69096 D RGD:9068941 20201023 RGD mRNA:increased expression:liver (mouse) PMID:28465467|REF_RGD_ID:39939037 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis onset ISO RGD:69051 D RGD:9068941 20200609 RGD associated with extrahepatic cholestasis PMID:30243650|REF_RGD_ID:14985234 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:30092114|REF_RGD_ID:14985231 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:27528511|REF_RGD_ID:14995475 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69096 D RGD:9068941 20200609 RGD associated with Chemical and Drug Induced Liver Injury PMID:28390311|REF_RGD_ID:14985232 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001600 Wounds and Injuries ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:17117936|REF_RGD_ID:2302090 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001600 Wounds and Injuries ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12533868|REF_RGD_ID:2292211 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:69051 D RGD:9068941 20230803 RGD PMID:16141011|REF_RGD_ID:401717565 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491|PMID:19960420 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69096 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:19211686|REF_RGD_ID:2306734 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24074026|REF_RGD_ID:7394855 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002221 Hyperplasia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20172950 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002254 Dilatation, Pathologic ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Coronary Arteriosclerosis;protein:increased expression:plasma PMID:17429295|REF_RGD_ID:1601551 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15159307|PMID:18082198 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:15907823|REF_RGD_ID:11041166 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002457 Experimental Arthritis ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:29763498|REF_RGD_ID:15036801 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199790 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:28190234|REF_RGD_ID:14985233 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA:increased expression:optic (II) nerve, sciatic nerve PMID:14997937|REF_RGD_ID:2302105 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002689 Spontaneous Neoplasm Regression ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:central nervous system PMID:17204936|REF_RGD_ID:2302088 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:27108788|REF_RGD_ID:11073667 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:69051 D RGD:9068941 20230225 RGD protein:increased expression:blood serum (rat) PMID:27318893|REF_RGD_ID:156430318 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:22134166|REF_RGD_ID:11073617 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO RGD:69096 D RGD:9068941 20230330 RGD PMID:33236535|REF_RGD_ID:242905189 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9003548 Infant, Newborn, Diseases ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29483653 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9003867 Lymphomatoid Papulosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11594583 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9003936 Cardiomegaly ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:15542404|REF_RGD_ID:1581939 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9004018 Paraquat Lung ISO RGD:69095 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung,serum: PMID:24535699|REF_RGD_ID:11073678 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9004250 Hepatic Insufficiency ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9004303 Tubulointerstitial Fibrosis ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15007308|REF_RGD_ID:1304308 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9004303 Tubulointerstitial Fibrosis ameliorates ISO RGD:69051 D RGD:9068941 20210827 RGD PMID:23249995|REF_RGD_ID:13446413 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9004303 Tubulointerstitial Fibrosis ameliorates ISO RGD:69096 D RGD:9068941 20230921 RGD PMID:32065356|REF_RGD_ID:401824679 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9004364 Meckel Syndrome 10 ISO RGD:69095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 10 PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9004464 Skin Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8148055 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9004484 Sepsis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16003065 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69095 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:23992306|PMID:24727557|PMID:24793912|PMID:25884904|PMID:26896736|PMID:32745479 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9004610 Acute Lung Injury ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16100012 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:69096 D RGD:9068941 20201022 RGD PMID:25278421|REF_RGD_ID:39939031 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10750555 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9005172 Lung Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11074608|PMID:11641043|PMID:17418594 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:8466857|REF_RGD_ID:7394797 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9005369 Hepatomegaly ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9005372 Inflammation ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19138248|PMID:20172950 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9005463 Occupational Diseases ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15855808|REF_RGD_ID:1601583 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17177138|PMID:23090186 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:26645248|REF_RGD_ID:14995470 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9005968 Neuralgia treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:24979268|REF_RGD_ID:11073677 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery PMID:17213961|REF_RGD_ID:1601553 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:69051 D RGD:9068941 20230527 RGD mRNA:increased expression:carotic artery (rat) PMID:9622270|REF_RGD_ID:329845558 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:69096 D RGD:9068941 20230601 RGD PMID:24920753|REF_RGD_ID:329845564 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9006392 Anetoderma ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:9274625|REF_RGD_ID:7394827 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA:increased expression:left heart ventricle PMID:18692559|REF_RGD_ID:2306739 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9006956 nephrotoxicity treatment ISO RGD:69051 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9007096 Stroke ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16635409 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9007332 Progressive Diaphyseal Dysplasia 1 ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphyseal dysplasia 1, progressive PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9007346 Cachexia ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:2054795|REF_RGD_ID:7394820 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:69096 D RGD:9068941 20200609 RGD PMID:27516150|REF_RGD_ID:14995464 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9007480 Hyperoxia ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:18353229|REF_RGD_ID:4145291 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9007480 Hyperoxia ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:18245268|REF_RGD_ID:4145293 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9007480 Hyperoxia ISO RGD:69096 D RGD:9068941 20200609 RGD protein:decreased activity:lung PMID:20220550|REF_RGD_ID:4145114 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9007588 Heart Injuries ameliorates ISO RGD:69096 D RGD:9068941 20230330 RGD associated with obesity PMID:32084395|REF_RGD_ID:242905211 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20172950 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:22913380|REF_RGD_ID:12903950 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :869C>T (rs1800470), 11929C>T (rs1800472) (human) PMID:28700046|REF_RGD_ID:14995436 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9008163 Chronic Hepatitis B no_association ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-509C>T (rs1800469) (human) PMID:28700046|REF_RGD_ID:14995436 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9008604 Radiation Pneumonitis ISO RGD:69051 D RGD:9068941 20200609 RGD PMID:18411002|REF_RGD_ID:4145278 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9008604 Radiation Pneumonitis ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19943923|REF_RGD_ID:4145121 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:exon:869T>C (rs1982073) (human) PMID:19380441|REF_RGD_ID:4145136 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19635314|REF_RGD_ID:4145129 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10646786 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9009237 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY ISO RGD:69095 D RGD:7240710 20190315 OMIM 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9009237 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease, immunodeficiency, and encephalopathy PMID:16207846|PMID:17293864|PMID:18292811|PMID:18424453|PMID:25741868|PMID:28492532|PMID:29483653 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9256 colorectal cancer ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12778073|REF_RGD_ID:13432088 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD PMID:15057430|REF_RGD_ID:13432086 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9269 maple syrup urine disease ISO RGD:69095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9351 diabetes mellitus ISO RGD:69095 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69051 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:24613393|REF_RGD_ID:11073674 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23500658 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18646321|REF_RGD_ID:2306740 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:936 brain disease ISO RGD:69095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868|PMID:29483653 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9538 multiple myeloma ISO RGD:69095 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:22560388|REF_RGD_ID:11073614 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9538 multiple myeloma disease_progression ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:hypermethylation: : PMID:23699600|REF_RGD_ID:11073605 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9663 aphthous stomatitis ISO RGD:69095 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-509T>C (human) PMID:27266194|REF_RGD_ID:14975145 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9675 pulmonary emphysema ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12634787 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9675 pulmonary emphysema severity ISO RGD:69095 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human) PMID:18670143|REF_RGD_ID:4145272 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9743 diabetic neuropathy ISO RGD:69051 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion PMID:18406405|REF_RGD_ID:2302086 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9743 diabetic neuropathy ISO RGD:69095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16696316 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18979373|REF_RGD_ID:2306737 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9970 obesity ISO RGD:69051 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:16477387|REF_RGD_ID:1601561 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9970 obesity ISO RGD:69095 D RGD:9068941 20200609 RGD associated with hypertension;protein:increased expression:blood PMID:15944724|REF_RGD_ID:1601579 8773525 Tgfb1 transforming growth factor beta 1 gene DOID:9970 obesity severity ISO RGD:69095 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue PMID:16253647|REF_RGD_ID:1601563 8773541 Nr4a3 nuclear receptor subfamily 4 group A member 3 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8773541 Nr4a3 nuclear receptor subfamily 4 group A member 3 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8773541 Nr4a3 nuclear receptor subfamily 4 group A member 3 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8773541 Nr4a3 nuclear receptor subfamily 4 group A member 3 gene DOID:1059 intellectual disability ISO RGD:1348747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8773541 Nr4a3 nuclear receptor subfamily 4 group A member 3 gene DOID:12712 nephronophthisis ISO RGD:1348747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8773541 Nr4a3 nuclear receptor subfamily 4 group A member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8773541 Nr4a3 nuclear receptor subfamily 4 group A member 3 gene DOID:4549 extraskeletal myxoid chondrosarcoma ISO RGD:1348747 D RGD:7240710 20190315 OMIM 8773541 Nr4a3 nuclear receptor subfamily 4 group A member 3 gene DOID:630 genetic disease ISO RGD:1348747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773541 Nr4a3 nuclear receptor subfamily 4 group A member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8773541 Nr4a3 nuclear receptor subfamily 4 group A member 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1348747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8773541 Nr4a3 nuclear receptor subfamily 4 group A member 3 gene DOID:9000808 Hypercholesterolemia ISO RGD:1348747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005304 8773541 Nr4a3 nuclear receptor subfamily 4 group A member 3 gene DOID:9007692 Insulin Resistance ISO RGD:1348747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785466 8773557 Tp53rk TP53 regulating kinase gene DOID:0080246 Galloway-Mowat syndrome 4 ISO RGD:1317644 D RGD:7240710 20190315 OMIM 8773557 Tp53rk TP53 regulating kinase gene DOID:0080246 Galloway-Mowat syndrome 4 ISO RGD:1317644 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 PMID:25741868|PMID:28492532|PMID:28805828|PMID:32581362 8773557 Tp53rk TP53 regulating kinase gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1317644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 8773557 Tp53rk TP53 regulating kinase gene DOID:2234 focal epilepsy ISO RGD:1317644 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8773557 Tp53rk TP53 regulating kinase gene DOID:630 genetic disease ISO RGD:1317644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8773557 Tp53rk TP53 regulating kinase gene DOID:9008086 Developmental Disabilities ISO RGD:1317644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:32581362 8773577 Cfap119 cilia and flagella associated protein 119 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1603940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8773577 Cfap119 cilia and flagella associated protein 119 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1603940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 8773577 Cfap119 cilia and flagella associated protein 119 gene DOID:630 genetic disease ISO RGD:1603940 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773613 Emc4 ER membrane protein complex subunit 4 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1605682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy 8773613 Emc4 ER membrane protein complex subunit 4 gene DOID:2717 Bloom syndrome ISO RGD:1605682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8773613 Emc4 ER membrane protein complex subunit 4 gene DOID:630 genetic disease ISO RGD:1605682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773613 Emc4 ER membrane protein complex subunit 4 gene DOID:9256 colorectal cancer ISO RGD:1605682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:0080855 Parkinsonism ISO RGD:2681 D RGD:9068941 20200609 RGD PMID:21865882|REF_RGD_ID:6218962 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:0080855 Parkinsonism ISO RGD:2681 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:12210101|REF_RGD_ID:6218972 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:10487 Hirschsprung's disease ISO RGD:733164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:11446 sciatic neuropathy ISO RGD:2681 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn PMID:20533358|REF_RGD_ID:6218963 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:2316 brain ischemia ISO RGD:2681 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:10407114|REF_RGD_ID:6218981 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:3049 Churg-Strauss syndrome ISO RGD:733164 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:630 genetic disease ISO RGD:733164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:2681 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal XII nerve PMID:10407179|REF_RGD_ID:6218979 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:2681 D RGD:9068941 20200609 RGD PMID:16464682|REF_RGD_ID:6218969 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:9004001 Facial Nerve Injuries ISO RGD:2681 D RGD:9068941 20200609 RGD mRNA:increased expression:facial VII nucleus PMID:9582449|REF_RGD_ID:6218984 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:9005365 Renal Hypodysplasia/Aplasia 4 ISO RGD:733164 D RGD:7240710 20220608 OMIM 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:9005365 Renal Hypodysplasia/Aplasia 4 ISO RGD:733164 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 4 PMID:25741868|PMID:33020172|PMID:34737117 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:9005968 Neuralgia ISO RGD:733164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:9007096 Stroke ISO RGD:2681 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:11476594|REF_RGD_ID:6218974 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2681 D RGD:9068941 20200609 RGD PMID:15144875|REF_RGD_ID:6218970 8773632 Gfra1 GDNF family receptor alpha 1 gene DOID:9810 polyarteritis nodosa ISO RGD:733164 D RGD:9068941 20200609 RGD PMID:9853108|REF_RGD_ID:6218983 8773654 Ppic peptidylprolyl isomerase C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1344607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8773654 Ppic peptidylprolyl isomerase C gene DOID:630 genetic disease ISO RGD:1344607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773654 Ppic peptidylprolyl isomerase C gene DOID:9000217 Stomach Neoplasms ISO RGD:1344607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8773654 Ppic peptidylprolyl isomerase C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8773654 Ppic peptidylprolyl isomerase C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8773654 Ppic peptidylprolyl isomerase C gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1344607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:0080600 COVID-19 ISO RGD:737357 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:737357 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex: PMID:18479783|REF_RGD_ID:10045894 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:10763 hypertension ISO RGD:2873 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, plasma PMID:9396554|REF_RGD_ID:1626482 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:737357 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball: PMID:24106111|REF_RGD_ID:10045867 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:1459 hypothyroidism ISO RGD:2873 D RGD:9068941 20200609 RGD PMID:11834454|REF_RGD_ID:1626512 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:2773 contact dermatitis ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:5082 liver cirrhosis ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:737357 D RGD:9068941 20200609 RGD PMID:16915540|REF_RGD_ID:1626481 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:9007480 Hyperoxia ISO RGD:2873 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16288470|REF_RGD_ID:1626492 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537059 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:737357 D RGD:9068941 20200609 RGD PMID:17259371|REF_RGD_ID:1626479 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:9970 obesity ISO RGD:737357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537059 8773662 Igfbp2 insulin like growth factor binding protein 2 gene DOID:9970 obesity ISO RGD:737357 D RGD:9068941 20200609 RGD PMID:17259371|PMID:17426323|REF_RGD_ID:1626478|REF_RGD_ID:1626479 8773692 Rad51ap2 RAD51 associated protein 2 gene DOID:630 genetic disease ISO RGD:2311158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773708 Tspan9 tetraspanin 9 gene DOID:630 genetic disease ISO RGD:1602896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773708 Tspan9 tetraspanin 9 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8773732 CUNH16orf89 chromosome unknown C16orf89 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1602067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 8773732 CUNH16orf89 chromosome unknown C16orf89 homolog gene DOID:630 genetic disease ISO RGD:1602067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773751 Ctnna3 catenin alpha 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1320341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 8773751 Ctnna3 catenin alpha 3 gene DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ISO RGD:1320341 D RGD:7240710 20180130 OMIM 8773751 Ctnna3 catenin alpha 3 gene DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ISO RGD:1320341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13 PMID:16199547|PMID:17576681|PMID:21254927|PMID:22421363|PMID:23136403|PMID:23375656|PMID:25050139|PMID:25640679|PMID:25741868|PMID:27231342|PMID:27535533|PMID:28202948|PMID:28416588|PMID:28492532|PMID:29544605|PMID:30847666|PMID:32880476|PMID:33497884|PMID:33789662|PMID:9536098 8773751 Ctnna3 catenin alpha 3 gene DOID:11054 urinary bladder cancer ISO RGD:1320341 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8773751 Ctnna3 catenin alpha 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8773751 Ctnna3 catenin alpha 3 gene DOID:2841 asthma ISO RGD:1320341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19187332 8773751 Ctnna3 catenin alpha 3 gene DOID:2843 long QT syndrome ISO RGD:1320341 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28416588|PMID:28492532 8773751 Ctnna3 catenin alpha 3 gene DOID:303 substance-related disorder ISO RGD:1320341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8773751 Ctnna3 catenin alpha 3 gene DOID:630 genetic disease ISO RGD:1320341 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8773751 Ctnna3 catenin alpha 3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1320341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 8773751 Ctnna3 catenin alpha 3 gene DOID:9000727 Syncope ISO RGD:1320341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope 8773776 Ffar4 free fatty acid receptor 4 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1317919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 8773776 Ffar4 free fatty acid receptor 4 gene DOID:630 genetic disease ISO RGD:1317919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773776 Ffar4 free fatty acid receptor 4 gene DOID:9002470 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome ISO RGD:1317919 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome PMID:10232633|PMID:16157297|PMID:25741868|PMID:25910211|PMID:28492532|PMID:9888420 8773794 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:0080422 Dravet syndrome ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8773794 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:0080599 Coronavirus infectious disease ISO RGD:732673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253445 8773794 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:0111940 immunodeficiency 42 ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8773794 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8773794 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8773794 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:1540 parathyroid carcinoma ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8773794 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:732673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253445 8773794 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:5812 MHC class II deficiency ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8773794 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:630 genetic disease ISO RGD:732673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773794 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:9001761 Autosomal Dominant Nonsyndromic Deafness 87 ISO RGD:732673 D RGD:7240710 20230505 OMIM 8773794 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:9001761 Autosomal Dominant Nonsyndromic Deafness 87 ISO RGD:732673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 87 PMID:33358777 8773794 Pi4kb phosphatidylinositol 4-kinase beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8773820 Adcy6 adenylate cyclase 6 gene DOID:5199 ureteral obstruction ISO RGD:2035 D RGD:9068941 20200609 RGD PMID:18971210|REF_RGD_ID:2312654 8773820 Adcy6 adenylate cyclase 6 gene DOID:630 genetic disease ISO RGD:735837 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8773820 Adcy6 adenylate cyclase 6 gene DOID:9002593 Lethal Congenital Contracture Syndrome 8 ISO RGD:735837 D RGD:7240710 20180130 OMIM 8773820 Adcy6 adenylate cyclase 6 gene DOID:9002593 Lethal Congenital Contracture Syndrome 8 ISO RGD:735837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 PMID:23806086|PMID:24088041|PMID:24319099|PMID:25741868|PMID:26257172|PMID:31846058 8773861 Gpr171 G protein-coupled receptor 171 gene DOID:0050579 glycogen storage disease XV ISO RGD:1353149 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8773861 Gpr171 G protein-coupled receptor 171 gene DOID:630 genetic disease ISO RGD:1353149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773867 Degs2 delta 4-desaturase, sphingolipid 2 gene DOID:630 genetic disease ISO RGD:1352357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773875 Catsperd cation channel sperm associated auxiliary subunit delta gene DOID:630 genetic disease ISO RGD:1604493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8773985 Gpat4 glycerol-3-phosphate acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1606717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774005 Flvcr1 FLVCR choline and heme transporter 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:27666822 8774005 Flvcr1 FLVCR choline and heme transporter 1 gene DOID:0050817 Stargardt disease ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:30718709 8774005 Flvcr1 FLVCR choline and heme transporter 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1606303 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:23591405|PMID:25741868|PMID:26467025|PMID:27353947|PMID:27923065|PMID:28492532|PMID:28766925|PMID:29192808|PMID:30356807|PMID:30656474|PMID:31884612|PMID:31963381|PMID:32037395|PMID:32531858|PMID:32984570|PMID:34906470|PMID:36909829|PMID:9536098 8774005 Flvcr1 FLVCR choline and heme transporter 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1618983 D RGD:9068941 20220825 MouseDO OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 8774005 Flvcr1 FLVCR choline and heme transporter 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8774005 Flvcr1 FLVCR choline and heme transporter 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1606303 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:25741868 8774005 Flvcr1 FLVCR choline and heme transporter 1 gene DOID:630 genetic disease ISO RGD:1606303 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21070897|PMID:21267618|PMID:22279524|PMID:22483575|PMID:24628582|PMID:25741868|PMID:26467025|PMID:27923065|PMID:28492532|PMID:28559085|PMID:30656474|PMID:31408049|PMID:32483926|PMID:32822874|PMID:9409377 8774005 Flvcr1 FLVCR choline and heme transporter 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8774005 Flvcr1 FLVCR choline and heme transporter 1 gene DOID:8501 fundus dystrophy ISO RGD:1606303 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:23591405|PMID:25741868|PMID:26467025|PMID:27353947|PMID:28492532|PMID:28766925|PMID:29192808|PMID:30356807|PMID:30656474|PMID:31884612|PMID:31963381|PMID:32037395|PMID:32531858|PMID:32984570|PMID:36909829|PMID:9536098 8774005 Flvcr1 FLVCR choline and heme transporter 1 gene DOID:9008679 Posterior Column Ataxia with Retinitis Pigmentosa ISO RGD:1606303 D RGD:7240710 20180130 OMIM 8774005 Flvcr1 FLVCR choline and heme transporter 1 gene DOID:9008679 Posterior Column Ataxia with Retinitis Pigmentosa ISO RGD:1606303 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa PMID:17576681|PMID:21070897|PMID:21267618|PMID:22279524|PMID:22483575|PMID:23591405|PMID:24628582|PMID:25741868|PMID:26467025|PMID:27353947|PMID:27923065|PMID:28492532|PMID:28559085|PMID:28766925|PMID:29192808|PMID:30356807|PMID:30444160|PMID:30656474|PMID:31408049|PMID:31884612|PMID:31963381|PMID:32037395|PMID:32483926|PMID:32531858|PMID:32822874|PMID:32984570|PMID:36909829|PMID:9409377|PMID:9536098|PMID:9855554 8774005 Flvcr1 FLVCR choline and heme transporter 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8774020 Tfeb transcription factor EB gene DOID:0050444 infantile Refsum disease ISO RGD:1319997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8774020 Tfeb transcription factor EB gene DOID:630 genetic disease ISO RGD:1319997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774020 Tfeb transcription factor EB gene DOID:9002955 Nerve Degeneration ISO RGD:1319997 D RGD:9068941 20220310 CTD CTD Direct Evidence: therapeutic PMID:34562559 8774020 Tfeb transcription factor EB gene DOID:905 Zellweger syndrome ISO RGD:1319997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8774048 Tgm6 transglutaminase 6 gene DOID:0050982 spinocerebellar ataxia type 35 ISO RGD:1349690 D RGD:7240710 20180130 OMIM 8774048 Tgm6 transglutaminase 6 gene DOID:0050982 spinocerebellar ataxia type 35 ISO RGD:1349690 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 35 PMID:17576681|PMID:21106500|PMID:21907015|PMID:22287014|PMID:22554020|PMID:23206699|PMID:24755948|PMID:25133958|PMID:25253745|PMID:25741868|PMID:26467025|PMID:28135719|PMID:28492532|PMID:28934387|PMID:29482223|PMID:30229425|PMID:30670339|PMID:31785789|PMID:31920494|PMID:32259886|PMID:32426513|PMID:33378849|PMID:34008892|PMID:35401678|PMID:9536098 8774048 Tgm6 transglutaminase 6 gene DOID:0080855 Parkinsonism ISO RGD:1349690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868 8774048 Tgm6 transglutaminase 6 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1349690 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8774048 Tgm6 transglutaminase 6 gene DOID:1389 polyneuropathy ISO RGD:1349690 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868|PMID:26467025|PMID:28492532|PMID:35401678 8774048 Tgm6 transglutaminase 6 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1349690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:26467025|PMID:28492532 8774048 Tgm6 transglutaminase 6 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1349690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8774048 Tgm6 transglutaminase 6 gene DOID:630 genetic disease ISO RGD:1349690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25133958|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30670339 8774048 Tgm6 transglutaminase 6 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1349690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8774048 Tgm6 transglutaminase 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1349690 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:21106500|PMID:23206699|PMID:24755948|PMID:25253745|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:30670339|PMID:31920494|PMID:32259886|PMID:32426513 8774065 IRS1 insulin receptor substrate 1 gene DOID:13223 uterine fibroid ISO RGD:733473 D RGD:9068941 20231102 RGD mRNA:increased expression:uterus (human) PMID:23818951|REF_RGD_ID:401851920 8774065 Irs1 insulin receptor substrate 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9466558 8774065 Irs1 insulin receptor substrate 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:2922 D RGD:9068941 20200609 RGD PMID:20846698|REF_RGD_ID:6483014 8774065 Irs1 insulin receptor substrate 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733473 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11775217|PMID:12679424|PMID:24033266|PMID:25741868|PMID:28492532 8774065 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease ISO RGD:10816 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:hippocampus PMID:22476196|REF_RGD_ID:6482861 8774065 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus: PMID:22527777|REF_RGD_ID:10045939 8774065 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease ISO RGD:733473 D RGD:9068941 20200609 RGD protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1 PMID:22476197|REF_RGD_ID:6482860 8774065 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:733473 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1801278(human) PMID:24589556|REF_RGD_ID:10045932 8774065 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:733473 D RGD:9068941 20200609 RGD protein:altered expression:temporal cortex: PMID:18479783|REF_RGD_ID:10045894 8774065 Irs1 insulin receptor substrate 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10816 D RGD:9068941 20200609 RGD PMID:23011726|PMID:23660953|REF_RGD_ID:10045935|REF_RGD_ID:10403036 8774065 Irs1 insulin receptor substrate 1 gene DOID:11476 osteoporosis ISO RGD:2922 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:multiple PMID:22820932|REF_RGD_ID:7207063 8774065 Irs1 insulin receptor substrate 1 gene DOID:1168 familial hyperlipidemia ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10591678 8774065 Irs1 insulin receptor substrate 1 gene DOID:2018 hyperinsulinism ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19734900 8774065 Irs1 insulin receptor substrate 1 gene DOID:3393 coronary artery disease ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10591678 8774065 Irs1 insulin receptor substrate 1 gene DOID:3393 coronary artery disease ISO RGD:733473 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:G972R PMID:10591678|REF_RGD_ID:1624974 8774065 Irs1 insulin receptor substrate 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30594912 8774065 Irs1 insulin receptor substrate 1 gene DOID:630 genetic disease ISO RGD:733473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774065 Irs1 insulin receptor substrate 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1311924|PMID:23958494 8774065 Irs1 insulin receptor substrate 1 gene DOID:783 end stage renal disease ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:aorta PMID:22942179|REF_RGD_ID:7207055 8774065 Irs1 insulin receptor substrate 1 gene DOID:9000528 Coronary Disease ISO RGD:733473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, susceptibility to PMID:10084586|PMID:10430617|PMID:10591678|PMID:10843189|PMID:12843189|PMID:1311924|PMID:14671192|PMID:14707024|PMID:15240653|PMID:7623569|PMID:8104271|PMID:8647950 8774065 Irs1 insulin receptor substrate 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2922 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:growth plate: PMID:22995397|REF_RGD_ID:8661261 8774065 Irs1 insulin receptor substrate 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15678496 8774065 Irs1 insulin receptor substrate 1 gene DOID:9004086 AIDS Dementia Complex severity ISO RGD:733473 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte PMID:22629383|REF_RGD_ID:10403033 8774065 Irs1 insulin receptor substrate 1 gene DOID:9004484 Sepsis ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation, increased serine phosphorylation:gastrocnemius PMID:19781177|REF_RGD_ID:6482862 8774065 Irs1 insulin receptor substrate 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2922 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:multiple PMID:22820932|REF_RGD_ID:7207063 8774065 Irs1 insulin receptor substrate 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138235 8774065 Irs1 insulin receptor substrate 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2922 D RGD:9068941 20200609 RGD PMID:22983684|REF_RGD_ID:7207061 8774065 Irs1 insulin receptor substrate 1 gene DOID:9005930 Endotoxemia ISO RGD:10816 D RGD:9068941 20200609 RGD protein:increased tyrosine nitration, decreased tyrosine phosphorylation:skeletal muscle PMID:21206533|REF_RGD_ID:6483008 8774065 Irs1 insulin receptor substrate 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle PMID:10842668|REF_RGD_ID:6482864 8774065 Irs1 insulin receptor substrate 1 gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:10816 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8774065 Irs1 insulin receptor substrate 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23748240 8774065 Irs1 insulin receptor substrate 1 gene DOID:9007692 Insulin Resistance ISO RGD:733473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:10084586|PMID:10430617|PMID:10591678|PMID:10843189|PMID:12843189|PMID:1311924|PMID:14671192|PMID:14707024|PMID:15240653|PMID:7623569|PMID:8104271|PMID:8647950 8774065 Irs1 insulin receptor substrate 1 gene DOID:9351 diabetes mellitus ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10591678 8774065 Irs1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733473 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11775217|PMID:12679424|PMID:24033266|PMID:25741868|PMID:28492532 8774065 Irs1 insulin receptor substrate 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733473 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.P512A, p.G971R (human) PMID:15561966|REF_RGD_ID:6482863 8774065 Irs1 insulin receptor substrate 1 gene DOID:9970 obesity ISO RGD:2922 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation, increased serine phosphorylation:skeletal muscle PMID:22982470|REF_RGD_ID:7207062 8774065 Irs1 insulin receptor substrate 1 gene DOID:9970 obesity ISO RGD:733473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731889 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223503 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:0080600 COVID-19 ISO RGD:731889 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:17145867|REF_RGD_ID:2715645 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:17956886|REF_RGD_ID:2708463 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:731889 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs16941635 (human) PMID:19377877|REF_RGD_ID:2683526 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:18245534|REF_RGD_ID:2701900 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:3500 gallbladder adenocarcinoma ISO RGD:731889 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:15017593|REF_RGD_ID:2722465 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:4362 cervical cancer ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:18299147|REF_RGD_ID:2296067 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:630 genetic disease ISO RGD:731889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731889 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731889 D RGD:9068941 20220818 RGD protein:increased expression:liver (human) PMID:19136513|REF_RGD_ID:2316317 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2319 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dura mater (rat) PMID:19672039|REF_RGD_ID:2316488 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731889 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731889 D RGD:9068941 20200609 RGD PMID:17460776|REF_RGD_ID:2756028 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731890 D RGD:9068941 20200609 RGD PMID:17575168|REF_RGD_ID:2711357 8774071 Cdk1 cyclin dependent kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:2319 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thyroid gland (rat) PMID:19298605|REF_RGD_ID:2314685 8774091 Sox30 SRY-box transcription factor 30 gene DOID:12336 male infertility ISO RGD:1602491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 8774091 Sox30 SRY-box transcription factor 30 gene DOID:1324 lung cancer ISO RGD:1602491 D RGD:9068941 20220303 RGD DNA:hypermethylation:lung: PMID:25435374|REF_RGD_ID:151660338 8774091 Sox30 SRY-box transcription factor 30 gene DOID:1324 lung cancer exacerbates ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:25435374|REF_RGD_ID:151660338 8774091 Sox30 SRY-box transcription factor 30 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:26330328|REF_RGD_ID:11535423 8774091 Sox30 SRY-box transcription factor 30 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:32443323|REF_RGD_ID:151660331 8774091 Sox30 SRY-box transcription factor 30 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:26330328|REF_RGD_ID:11535423 8774091 Sox30 SRY-box transcription factor 30 gene DOID:630 genetic disease ISO RGD:1602491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774091 Sox30 SRY-box transcription factor 30 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:30312695|REF_RGD_ID:151660341 8774091 Sox30 SRY-box transcription factor 30 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1602491 D RGD:9068941 20220303 RGD PMID:30312695|REF_RGD_ID:151660341 8774091 Sox30 SRY-box transcription factor 30 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1602491 D RGD:9068941 20220303 RGD associated with lung non-small cell carcinoma;mRNA, protein:decreased expression: : PMID:29739711|REF_RGD_ID:151660333 8774091 Sox30 SRY-box transcription factor 30 gene DOID:9005172 Lung Neoplasms ISO RGD:1602491 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25435374 8774091 Sox30 SRY-box transcription factor 30 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1313914 D RGD:9068941 20220303 RGD PMID:29739711|REF_RGD_ID:151660333 8774091 Sox30 SRY-box transcription factor 30 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1313914 D RGD:9068941 20220303 RGD PMID:29739711|REF_RGD_ID:151660333 8774104 Gsc goosecoid homeobox gene DOID:0081063 DICER1 syndrome ISO RGD:736937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 8774104 Gsc goosecoid homeobox gene DOID:4769 pleuropulmonary blastoma ISO RGD:736937 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 8774104 Gsc goosecoid homeobox gene DOID:630 genetic disease ISO RGD:736937 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8774104 Gsc goosecoid homeobox gene DOID:9007856 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities ISO RGD:736937 D RGD:7240710 20180130 OMIM 8774104 Gsc goosecoid homeobox gene DOID:9007856 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities ISO RGD:736937 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities PMID:24290375|PMID:25741868|PMID:28492532|PMID:9475592 8774104 Gsc goosecoid homeobox gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10433910 8774111 Serpine2 serpin family E member 2 gene DOID:10652 Alzheimer's disease ISO RGD:70076 D RGD:9068941 20200609 RGD PMID:2813392|REF_RGD_ID:2317937 8774111 Serpine2 serpin family E member 2 gene DOID:10763 hypertension ISO RGD:3748 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood vessel PMID:12524238|REF_RGD_ID:729767 8774111 Serpine2 serpin family E member 2 gene DOID:4724 brain edema ISO RGD:3748 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:18442833|REF_RGD_ID:2317927 8774111 Serpine2 serpin family E member 2 gene DOID:630 genetic disease ISO RGD:70076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774111 Serpine2 serpin family E member 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3748 D RGD:9068941 20200609 RGD PMID:8261109|REF_RGD_ID:2317936 8774111 Serpine2 serpin family E member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8774127 Bsx brain specific homeobox gene DOID:5419 schizophrenia ISO RGD:1626189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8774127 Bsx brain specific homeobox gene DOID:630 genetic disease ISO RGD:1626189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774127 Bsx brain specific homeobox gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1626189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8774127 Bsx brain specific homeobox gene DOID:9007661 Dwarfism ISO RGD:1626189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8774139 Znf365 zinc finger protein 365 gene DOID:0080600 COVID-19 ISO RGD:1605085 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8774162 Endog endonuclease G gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8774162 Endog endonuclease G gene DOID:11832 visual epilepsy ISO RGD:1310763 D RGD:9068941 20200609 RGD PMID:20077427|REF_RGD_ID:9685392 8774162 Endog endonuclease G gene DOID:2316 brain ischemia ISO RGD:1310763 D RGD:9068941 20200609 RGD PMID:18568342|REF_RGD_ID:9685367 8774162 Endog endonuclease G gene DOID:6000 congestive heart failure ISO RGD:1310763 D RGD:9068941 20200609 RGD mRNa:decreased expression:heart: PMID:17292393|REF_RGD_ID:9685393 8774162 Endog endonuclease G gene DOID:630 genetic disease ISO RGD:1321856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774162 Endog endonuclease G gene DOID:767 muscular atrophy ISO RGD:1310763 D RGD:9068941 20200609 RGD PMID:15650125|REF_RGD_ID:9685359 8774162 Endog endonuclease G gene DOID:9000039 Spinal Cord Injuries ISO RGD:1310763 D RGD:9068941 20200609 RGD PMID:16689664|REF_RGD_ID:8655990 8774162 Endog endonuclease G gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1310763 D RGD:9068941 20200609 RGD protein:decreased expression:mitochondrion: PMID:22509279|REF_RGD_ID:9685364 8774168 Htr1f 5-hydroxytryptamine receptor 1F gene DOID:630 genetic disease ISO RGD:734005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774168 Htr1f 5-hydroxytryptamine receptor 1F gene DOID:6364 migraine ISO RGD:734005 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 8774190 Col17a1 collagen type XVII alpha 1 chain gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1322425 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10636730|PMID:11406649|PMID:12813757|PMID:14614394|PMID:16199547|PMID:16354180|PMID:16473856|PMID:17344927|PMID:17576681|PMID:19340010|PMID:20301304|PMID:21357940|PMID:24033266|PMID:24319098|PMID:24668667|PMID:24814191|PMID:25741868|PMID:25803036|PMID:28492532|PMID:28813618|PMID:33274474|PMID:9077475|PMID:9204958|PMID:9536098|PMID:9583744 8774190 Col17a1 collagen type XVII alpha 1 chain gene DOID:0070337 epithelial recurrent erosion dystrophy ISO RGD:1322425 D RGD:7240710 20180130 OMIM 8774190 Col17a1 collagen type XVII alpha 1 chain gene DOID:0070337 epithelial recurrent erosion dystrophy ISO RGD:1322425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy PMID:14562173|PMID:19710953|PMID:21466533|PMID:23550562|PMID:24005051|PMID:25676728|PMID:25741868|PMID:26604146|PMID:2663347|PMID:26786512|PMID:27309958|PMID:28492532|PMID:9199555 8774190 Col17a1 collagen type XVII alpha 1 chain gene DOID:0110054 amelogenesis imperfecta type 1A ISO RGD:1322425 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25741868|PMID:28492532 8774190 Col17a1 collagen type XVII alpha 1 chain gene DOID:2187 amelogenesis imperfecta ISO RGD:1322425 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:25741868 8774190 Col17a1 collagen type XVII alpha 1 chain gene DOID:2566 corneal dystrophy ISO RGD:1322425 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Corneal dystrophy PMID:14562173|PMID:19710953|PMID:25676728|PMID:25741868|PMID:2663347|PMID:26786512|PMID:27309958 8774190 Col17a1 collagen type XVII alpha 1 chain gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1322425 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:10398261|PMID:10577906|PMID:10636730|PMID:11406649|PMID:11851893|PMID:14614394|PMID:16199547|PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25741868|PMID:28492532|PMID:30673110|PMID:7550320|PMID:9199555|PMID:9740252 8774190 Col17a1 collagen type XVII alpha 1 chain gene DOID:3209 junctional epidermolysis bullosa susceptibility ISO RGD:1322425 D RGD:9068941 20200609 RGD PMID:7550320|REF_RGD_ID:1600884 8774190 Col17a1 collagen type XVII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1322425 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16473856|PMID:17344927|PMID:20301304|PMID:21357940|PMID:24319098|PMID:25741868|PMID:28492532 8774190 Col17a1 collagen type XVII alpha 1 chain gene DOID:9000413 Junctional Epidermolysis Bullosa 4, Intermediate ISO RGD:1322425 D RGD:7240710 20220608 OMIM 8774190 Col17a1 collagen type XVII alpha 1 chain gene DOID:9000413 Junctional Epidermolysis Bullosa 4, Intermediate ISO RGD:1322425 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: COL17A1-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate PMID:10398261|PMID:10577906|PMID:10636730|PMID:10951237|PMID:11851893|PMID:16199547|PMID:16354180|PMID:16473856|PMID:17344927|PMID:19340010|PMID:20301304|PMID:21357940|PMID:21466533|PMID:23550562|PMID:24005051|PMID:24319098|PMID:25741868|PMID:26604146|PMID:28492532|PMID:33274474|PMID:7092249|PMID:7550320|PMID:8618019|PMID:9012408|PMID:9077475|PMID:9199555|PMID:9204958|PMID:9457913|PMID:9457914|PMID:9740252 8774190 Col17a1 collagen type XVII alpha 1 chain gene DOID:9002189 High Myopia ISO RGD:1322425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:24814191|PMID:25803036 8774253 LOC102027549 serotransferrin gene DOID:0050425 restless legs syndrome ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:16930377 8774253 LOC102027549 serotransferrin gene DOID:0050425 restless legs syndrome ISO RGD:1342593 D RGD:9068941 20211029 RGD PMID:23369046|REF_RGD_ID:7244177 8774253 LOC102027549 serotransferrin gene DOID:0050642 hypochromic microcytic anemia ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:11110675 8774253 LOC102027549 serotransferrin gene DOID:0050649 atransferrinemia ISO RGD:1342593 D RGD:7240710 20211027 OMIM 8774253 LOC102027549 serotransferrin gene DOID:0050649 atransferrinemia ISO RGD:1342593 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atransferrinemia | ClinVar Annotator: match by term: Familial hypotransferrinemia | ClinVar Annotator: match by term: Transferrin variant chi PMID:11110675|PMID:11703331|PMID:11920219|PMID:12111369|PMID:12752114|PMID:15060098|PMID:15466165|PMID:16398662|PMID:17768112|PMID:17809412|PMID:20029940|PMID:21665994|PMID:25741868|PMID:25773295|PMID:28492532|PMID:34828384|PMID:4625559|PMID:5711079|PMID:5927288|PMID:6585826|PMID:8317485|PMID:9272172 8774253 LOC102027549 serotransferrin gene DOID:10283 prostate cancer ISO RGD:1342593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8774253 LOC102027549 serotransferrin gene DOID:10652 Alzheimer's disease ISO RGD:1342593 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transferrin variant c1/c2 PMID:15060098|PMID:20029940|PMID:25741868|PMID:28492532|PMID:9272172 8774253 LOC102027549 serotransferrin gene DOID:10763 hypertension ISO RGD:1342593 D RGD:9068941 20211029 RGD protein:decreased expression PMID:14974364|REF_RGD_ID:1601524 8774253 LOC102027549 serotransferrin gene DOID:10976 membranous glomerulonephritis ISO RGD:1342593 D RGD:9068941 20211029 RGD associated with Lupus Erythematosus, Systemic PMID:22328173|REF_RGD_ID:7244198 8774253 LOC102027549 serotransferrin gene DOID:11758 iron deficiency anemia ISO RGD:1342593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Iron deficiency anemia PMID:11703331|PMID:12752114|PMID:16398662|PMID:28492532 8774253 LOC102027549 serotransferrin gene DOID:11758 iron deficiency anemia susceptibility ISO RGD:1342593 D RGD:9068941 20211029 RGD DNA:missense mutation:exon:p.G277S PMID:11703331|REF_RGD_ID:1601513 8774253 LOC102027549 serotransferrin gene DOID:1184 nephrotic syndrome ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:17178036 8774253 LOC102027549 serotransferrin gene DOID:12849 autistic disorder ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:15363659 8774253 LOC102027549 serotransferrin gene DOID:1496 echinococcosis ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:24270252 8774253 LOC102027549 serotransferrin gene DOID:1574 alcohol use disorder ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:11000917|PMID:21792595 8774253 LOC102027549 serotransferrin gene DOID:1790 malignant mesothelioma ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:26818092 8774253 LOC102027549 serotransferrin gene DOID:2237 hepatitis ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:21907177 8774253 LOC102027549 serotransferrin gene DOID:2237 hepatitis ISO RGD:3845 D RGD:9068941 20211029 RGD protein:decreased modification:serum PMID:16480686|REF_RGD_ID:1601541 8774253 LOC102027549 serotransferrin gene DOID:2355 anemia ISO RGD:3845 D RGD:9068941 20211029 RGD associated with Trypanosomiasis;protein:increased expression:serum PMID:23270806|REF_RGD_ID:7244377 8774253 LOC102027549 serotransferrin gene DOID:2355 anemia treatment ISO RGD:1342593 D RGD:9068941 20211029 RGD associated with Heart Failure PMID:23680589|REF_RGD_ID:7244154 8774253 LOC102027549 serotransferrin gene DOID:2921 glomerulonephritis severity ISO RGD:1342593 D RGD:9068941 20211029 RGD PMID:22607047|REF_RGD_ID:7244194 8774253 LOC102027549 serotransferrin gene DOID:3021 acute kidney failure ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8774253 LOC102027549 serotransferrin gene DOID:305 carcinoma ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 8774253 LOC102027549 serotransferrin gene DOID:3910 lung adenocarcinoma ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8774253 LOC102027549 serotransferrin gene DOID:4195 hyperglycemia susceptibility ISO RGD:1342593 D RGD:9068941 20211029 RGD PMID:16936158|REF_RGD_ID:1601518 8774253 LOC102027549 serotransferrin gene DOID:630 genetic disease ISO RGD:1342593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774253 LOC102027549 serotransferrin gene DOID:77 gastrointestinal system disease ISO RGD:1342593 D RGD:9068941 20211029 RGD associated with Anemia and Renal Insufficiency, Chronic PMID:23055815|REF_RGD_ID:7244197 8774253 LOC102027549 serotransferrin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 8774253 LOC102027549 serotransferrin gene DOID:9000998 Brain Injuries ISO RGD:3845 D RGD:9068941 20211029 RGD PMID:22538758|REF_RGD_ID:7244386 8774253 LOC102027549 serotransferrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:11406 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 8774253 LOC102027549 serotransferrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3845 D RGD:9068941 20211029 RGD PMID:22464783|REF_RGD_ID:7244387 8774253 LOC102027549 serotransferrin gene DOID:9002165 Diabetic Nephropathies ISO RGD:3845 D RGD:9068941 20211029 RGD PMID:23468095|REF_RGD_ID:7244196 8774253 LOC102027549 serotransferrin gene DOID:9002955 Nerve Degeneration resistance ISO RGD:3845 D RGD:9068941 20211029 RGD PMID:17010319|REF_RGD_ID:1601536 8774253 LOC102027549 serotransferrin gene DOID:9003104 Intracranial Hemorrhages ISO RGD:3845 D RGD:9068941 20211029 RGD associated with Iron-Deficiency Anemia;protein:increased expression:basal ganglia PMID:16671451|REF_RGD_ID:1601537 8774253 LOC102027549 serotransferrin gene DOID:9003565 Paratuberculosis ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 8774253 LOC102027549 serotransferrin gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:1342593 D RGD:9068941 20211029 RGD PMID:22736466|REF_RGD_ID:7244383 8774253 LOC102027549 serotransferrin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 8774253 LOC102027549 serotransferrin gene DOID:9004713 Acute-Phase Reaction ISO RGD:3845 D RGD:9068941 20211029 RGD PMID:17417667|REF_RGD_ID:1601529 8774253 LOC102027549 serotransferrin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 8774253 LOC102027549 serotransferrin gene DOID:9005372 Inflammation ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 8774253 LOC102027549 serotransferrin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3845 D RGD:9068941 20211029 RGD PMID:17081048|REF_RGD_ID:1601532 8774253 LOC102027549 serotransferrin gene DOID:9005725 Iron Overload ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:11110675 8774253 LOC102027549 serotransferrin gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1342593 D RGD:9068941 20211029 RGD protein:increased expression:serum PMID:17416791|REF_RGD_ID:1601514 8774253 LOC102027549 serotransferrin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8774253 LOC102027549 serotransferrin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8774253 LOC102027549 serotransferrin gene DOID:9007692 Insulin Resistance ISO RGD:3845 D RGD:9068941 20211029 RGD protein:increased expression:plasma PMID:17350134|REF_RGD_ID:1601515 8774253 LOC102027549 serotransferrin gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8774253 LOC102027549 serotransferrin gene DOID:9270 alkaptonuria ISO RGD:1342593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8774253 LOC102027549 serotransferrin gene DOID:9452 steatotic liver disease ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:20008134|PMID:21907177 8774253 LOC102027549 serotransferrin gene DOID:9744 type 1 diabetes mellitus ISO RGD:1342593 D RGD:9068941 20211029 RGD PMID:22861364|REF_RGD_ID:7244379 8774253 LOC102027549 serotransferrin gene DOID:9970 obesity ISO RGD:1342593 D RGD:9068941 20211029 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8774253 LOC102027549 serotransferrin gene DOID:9970 obesity ISO RGD:3845 D RGD:9068941 20211029 RGD PMID:16267817|REF_RGD_ID:1601520 8774274 Stxbp5l syntaxin binding protein 5L gene DOID:630 genetic disease ISO RGD:1323085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774274 Stxbp5l syntaxin binding protein 5L gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8774274 Stxbp5l syntaxin binding protein 5L gene DOID:9270 alkaptonuria ISO RGD:1323085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8774319 Comt catechol-O-methyltransferase gene DOID:0050741 alcohol dependence disease_progression ISO RGD:737102 D RGD:9068941 20231230 RGD associated with schizophrenia; DNA:promoter:Hypermethylation PMID:16984965|REF_RGD_ID:401940146 8774319 Comt catechol-O-methyltransferase gene DOID:0050741 alcohol dependence onset ISO RGD:737102 D RGD:9068941 20231228 RGD DNA:polymorphism:exon: p.V158M (human) PMID:10698363|REF_RGD_ID:401940118 8774319 Comt catechol-O-methyltransferase gene DOID:0050741 alcohol dependence onset ISO RGD:737102 D RGD:9068941 20231230 RGD DNA:SNP:cd: p.V158M (human) PMID:11244495|REF_RGD_ID:401940131 8774319 Comt catechol-O-methyltransferase gene DOID:0050741 alcohol dependence onset ISO RGD:737102 D RGD:9068941 20231230 RGD DNA:polymorphism:exon 4: p.V158M (rs4680)(human) PMID:25035107|REF_RGD_ID:401940148 8774319 Comt catechol-O-methyltransferase gene DOID:0050741 alcohol dependence sexual_dimorphism ISO RGD:737102 D RGD:9068941 20240104 RGD associated with major depressive disorder; DNA:SNP:cd: p.V158M (human) PMID:20860878|REF_RGD_ID:401940149 8774319 Comt catechol-O-methyltransferase gene DOID:0050741 alcohol dependence susceptibility ISO RGD:737102 D RGD:9068941 20231228 RGD associated with Alzheimer's disease; DNA:SNP:cd: P.V158M G>A (rs4680) (human) PMID:25491588|REF_RGD_ID:11073926 8774319 Comt catechol-O-methyltransferase gene DOID:0050741 alcohol dependence susceptibility ISO RGD:737102 D RGD:9068941 20231228 RGD associated with Trauma and Stressor Related Disorders ; DNA:polymorphism:exon: p.V158M (human) PMID:31150143|REF_RGD_ID:401940120 8774319 Comt catechol-O-methyltransferase gene DOID:0050741 alcohol dependence susceptibility ISO RGD:737102 D RGD:9068941 20240104 RGD DNA:SNP:cd: p.V158M (human) PMID:16648777|PMID:20517217|REF_RGD_ID:401940133|REF_RGD_ID:401940155 8774319 Comt catechol-O-methyltransferase gene DOID:0050741 alcohol dependence susceptibility ISO RGD:737102 D RGD:9068941 20240104 RGD DNA:SNP:cd: p.V158M (rs4680) (human) PMID:24390676|REF_RGD_ID:401940156 8774319 Comt catechol-O-methyltransferase gene DOID:0050741 alcohol dependence susceptibility ISO RGD:737102 D RGD:9068941 20240201 RGD DNA:SNPs,haplotype:exon 4: p.V158M (rs4680) (human) PMID:16499480|REF_RGD_ID:401959300 8774319 Comt catechol-O-methyltransferase gene DOID:0050741 alcohol dependence susceptibility ISO RGD:737102 D RGD:9068941 20240201 RGD DNA:SNPs,haplotypes:: (rs165774,rs4680) (human) PMID:22208661|REF_RGD_ID:401959747 8774319 Comt catechol-O-methyltransferase gene DOID:0050742 nicotine dependence ISO RGD:737102 D RGD:9068941 20240118 RGD DNA:promoter:methylation PMID:21423427|REF_RGD_ID:401959312 8774319 Comt catechol-O-methyltransferase gene DOID:0050742 nicotine dependence onset ISO RGD:737102 D RGD:9068941 20240118 RGD DNA:SNP:exon 3: G1947A, p.V158M (rs4680) (human) PMID:17206495|REF_RGD_ID:401959230 8774319 Comt catechol-O-methyltransferase gene DOID:0050742 nicotine dependence sexual_dimorphism ISO RGD:737102 D RGD:9068941 20240201 RGD DNA:SNPs,haplotypes:promoter,exons:mutliple PMID:16499480|REF_RGD_ID:401959300 8774319 Comt catechol-O-methyltransferase gene DOID:0050742 nicotine dependence susceptibility ISO RGD:732613 D RGD:9068941 20240201 RGD DNA:SNPs,haplotype:intron 1: (rs9332377) (human) PMID:21312287|REF_RGD_ID:401959233 8774319 Comt catechol-O-methyltransferase gene DOID:0050742 nicotine dependence susceptibility ISO RGD:737102 D RGD:9068941 20231228 RGD DNA:SNP:cd: (rs4680) (human) PMID:28472995|REF_RGD_ID:401940107 8774319 Comt catechol-O-methyltransferase gene DOID:0050742 nicotine dependence susceptibility ISO RGD:737102 D RGD:9068941 20231230 RGD DNA:SNP:cd: p.V158M (human) PMID:20188797|REF_RGD_ID:401940136 8774319 Comt catechol-O-methyltransferase gene DOID:0050742 nicotine dependence susceptibility ISO RGD:737102 D RGD:9068941 20240104 RGD DNA:SNPs,haplotypes:intron1,exon 4,intron 5: (rs740603,rs4680, rs174699) (human) PMID:16395295|REF_RGD_ID:401940152 8774319 Comt catechol-O-methyltransferase gene DOID:0050742 nicotine dependence treatment ISO RGD:737102 D RGD:9068941 20240106 RGD DNA:SNPs:3'utr: (rs737865, rs165599) (human) PMID:16876132|REF_RGD_ID:401940189 8774319 Comt catechol-O-methyltransferase gene DOID:0050771 pheochromocytoma ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 8774319 Comt catechol-O-methyltransferase gene DOID:0060001 withdrawal disorder susceptibility ISO RGD:737102 D RGD:9068941 20240111 RGD associated with alcohol dependence; DNA:SNP:cd: c.158G>A (human) PMID:11900601|REF_RGD_ID:401940190 8774319 Comt catechol-O-methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8774319 Comt catechol-O-methyltransferase gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD associated with velocardiofacial syndrome;DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:25325218|REF_RGD_ID:13451123 8774319 Comt catechol-O-methyltransferase gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:737102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8774319 Comt catechol-O-methyltransferase gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:737102 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8774319 Comt catechol-O-methyltransferase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 8774319 Comt catechol-O-methyltransferase gene DOID:0080855 Parkinsonism ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:15698633|REF_RGD_ID:2289785 8774319 Comt catechol-O-methyltransferase gene DOID:0111996 immunodeficiency 51 ISO RGD:737102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8774319 Comt catechol-O-methyltransferase gene DOID:10283 prostate cancer disease_progression ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:16126332|REF_RGD_ID:2289720 8774319 Comt catechol-O-methyltransferase gene DOID:10283 prostate cancer no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:17507624|REF_RGD_ID:2289719 8774319 Comt catechol-O-methyltransferase gene DOID:10283 prostate cancer susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds PMID:16492910|REF_RGD_ID:2289718 8774319 Comt catechol-O-methyltransferase gene DOID:1059 intellectual disability ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8774319 Comt catechol-O-methyltransferase gene DOID:10591 pre-eclampsia ISO RGD:10378 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 8774319 Comt catechol-O-methyltransferase gene DOID:10763 hypertension ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:14714585|PMID:17510509|REF_RGD_ID:2289787|REF_RGD_ID:8662344 8774319 Comt catechol-O-methyltransferase gene DOID:10763 hypertension ISO RGD:2379 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17978496|REF_RGD_ID:2289729 8774319 Comt catechol-O-methyltransferase gene DOID:10763 hypertension susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1187G>C, 186C>T PMID:17143180|REF_RGD_ID:2289742 8774319 Comt catechol-O-methyltransferase gene DOID:10933 obsessive-compulsive disorder ISO RGD:737102 D RGD:9068941 20200609 RGD PMID:11840516|REF_RGD_ID:1300383 8774319 Comt catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10490706 8774319 Comt catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V158M(human) PMID:24035255|REF_RGD_ID:13450946 8774319 Comt catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:19946713|REF_RGD_ID:13450945 8774319 Comt catechol-O-methyltransferase gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:737102 D RGD:9068941 20200609 RGD PMID:27121430|REF_RGD_ID:13451120 8774319 Comt catechol-O-methyltransferase gene DOID:11054 urinary bladder cancer ISO RGD:737102 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder, urine PMID:15596044|REF_RGD_ID:2289726 8774319 Comt catechol-O-methyltransferase gene DOID:11198 DiGeorge syndrome ISO RGD:737102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8774319 Comt catechol-O-methyltransferase gene DOID:11372 megacolon ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8774319 Comt catechol-O-methyltransferase gene DOID:11612 polycystic ovary syndrome ISO RGD:737102 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17535988|REF_RGD_ID:2289711 8774319 Comt catechol-O-methyltransferase gene DOID:12129 bulimia nervosa susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: PMID:21300128|REF_RGD_ID:13451125 8774319 Comt catechol-O-methyltransferase gene DOID:12306 vitiligo ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M (human) PMID:19112571|REF_RGD_ID:8662333 8774319 Comt catechol-O-methyltransferase gene DOID:12306 vitiligo no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M (human) PMID:24915010|REF_RGD_ID:8662336 8774319 Comt catechol-O-methyltransferase gene DOID:12399 pathological gambling susceptibility ISO RGD:737102 D RGD:9068941 20240104 RGD DNA:SNP:cd: p.V158M (rs4680) (human) PMID:24390676|REF_RGD_ID:401940156 8774319 Comt catechol-O-methyltransferase gene DOID:12401 intermittent explosive disorder sexual_dimorphism ISO RGD:737102 D RGD:9068941 20240201 RGD associated with schizophrenia; DNA:polymorphism:cd: p.V158M (human) PMID:11204347|REF_RGD_ID:401950497 8774319 Comt catechol-O-methyltransferase gene DOID:12583 velocardiofacial syndrome ISO RGD:737102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8774319 Comt catechol-O-methyltransferase gene DOID:127 leiomyoma ISO RGD:737102 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:16730007|REF_RGD_ID:2289717 8774319 Comt catechol-O-methyltransferase gene DOID:127 leiomyoma susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M PMID:16443508|REF_RGD_ID:2289780 8774319 Comt catechol-O-methyltransferase gene DOID:12849 autistic disorder ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8774319 Comt catechol-O-methyltransferase gene DOID:12930 dilated cardiomyopathy ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8774319 Comt catechol-O-methyltransferase gene DOID:12930 dilated cardiomyopathy ISO RGD:737102 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 8774319 Comt catechol-O-methyltransferase gene DOID:13078 eumycotic mycetoma severity ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs4680) (human) PMID:20184498|REF_RGD_ID:8662334 8774319 Comt catechol-O-methyltransferase gene DOID:1324 lung cancer susceptibility ISO RGD:737102 D RGD:9068941 20240118 RGD associated with nicotine dependence and alcohol dependence; DNA:SNP:exon 4: 472G>A, p.V158M (rs4680) (human) PMID:27644662|REF_RGD_ID:401959228 8774319 Comt catechol-O-methyltransferase gene DOID:1380 endometrial cancer ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:12810635|REF_RGD_ID:2289723 8774319 Comt catechol-O-methyltransferase gene DOID:1380 endometrial cancer no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:15285606|REF_RGD_ID:2289721 8774319 Comt catechol-O-methyltransferase gene DOID:1380 endometrial cancer susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:17442187|REF_RGD_ID:2289714 8774319 Comt catechol-O-methyltransferase gene DOID:150 disease of mental health ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16780746 8774319 Comt catechol-O-methyltransferase gene DOID:1561 cognitive disorder ISO RGD:10378 D RGD:9068941 20220825 MouseDO 8774319 Comt catechol-O-methyltransferase gene DOID:1561 cognitive disorder ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17123785 8774319 Comt catechol-O-methyltransferase gene DOID:1561 cognitive disorder severity ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Bipolar Disorder;DNA:polymorphism: :p.V158M (human) PMID:16542182|REF_RGD_ID:8662329 8774319 Comt catechol-O-methyltransferase gene DOID:1561 cognitive disorder susceptibility ISO RGD:737102 D RGD:9068941 20240125 RGD associated with amphetamine abuse; DNA:SNP:cd: p.V158M (human) PMID:31301644|REF_RGD_ID:401940139 8774319 Comt catechol-O-methyltransferase gene DOID:1574 alcohol use disorder ISO RGD:1313623 D RGD:9068941 20240113 RGD DNA:polymorphism: :rs4680(human) PMID:32889058|REF_RGD_ID:401940151 8774319 Comt catechol-O-methyltransferase gene DOID:1574 alcohol use disorder ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10395222 8774319 Comt catechol-O-methyltransferase gene DOID:1574 alcohol use disorder disease_progression ISO RGD:737102 D RGD:9068941 20231228 RGD DNA:polymorphism:: PMID:10395222|REF_RGD_ID:401940114 8774319 Comt catechol-O-methyltransferase gene DOID:1612 breast cancer ISO RGD:737102 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17507616|REF_RGD_ID:2289712 8774319 Comt catechol-O-methyltransferase gene DOID:1612 breast cancer disease_progression ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:17429315|REF_RGD_ID:2289715 8774319 Comt catechol-O-methyltransferase gene DOID:1612 breast cancer no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:15285606|REF_RGD_ID:2289721 8774319 Comt catechol-O-methyltransferase gene DOID:1612 breast cancer susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:17562079|REF_RGD_ID:2289710 8774319 Comt catechol-O-methyltransferase gene DOID:1826 epilepsy ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8774319 Comt catechol-O-methyltransferase gene DOID:1849 cannabis dependence ISO RGD:737102 D RGD:9068941 20240125 RGD DNA:hypermethylation:promoter PMID:24902721|REF_RGD_ID:401940112 8774319 Comt catechol-O-methyltransferase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737102 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 8774319 Comt catechol-O-methyltransferase gene DOID:2213 hemorrhagic disease ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8774319 Comt catechol-O-methyltransferase gene DOID:2394 ovarian cancer ISO RGD:737102 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:15010821|REF_RGD_ID:2289722 8774319 Comt catechol-O-methyltransferase gene DOID:2394 ovarian cancer no_association ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.V158M PMID:11142424|REF_RGD_ID:2289725 8774319 Comt catechol-O-methyltransferase gene DOID:2394 ovarian cancer susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V158M PMID:12036914|REF_RGD_ID:2289724 8774319 Comt catechol-O-methyltransferase gene DOID:2559 opiate dependence severity ISO RGD:737102 D RGD:9068941 20240125 RGD DNA:SNP:cd: p.V158M (rs4680) (human) PMID:27061230|REF_RGD_ID:401959589 8774319 Comt catechol-O-methyltransferase gene DOID:2559 opiate dependence treatment ISO RGD:737102 D RGD:9068941 20240201 RGD PMID:32407152|REF_RGD_ID:401959744 8774319 Comt catechol-O-methyltransferase gene DOID:2560 morphine dependence susceptibility ISO RGD:737102 D RGD:9068941 20240104 RGD DNA:SNP:cd: (rs4680) p.V158M (human) PMID:30211780|REF_RGD_ID:401940137 8774319 Comt catechol-O-methyltransferase gene DOID:3312 bipolar disorder ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11772685 8774319 Comt catechol-O-methyltransferase gene DOID:3312 bipolar disorder ISO RGD:737102 D RGD:9068941 20231230 RGD DNA:promoter:Hypomethylation PMID:16984965|REF_RGD_ID:401940146 8774319 Comt catechol-O-methyltransferase gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:17220335|REF_RGD_ID:2289716 8774319 Comt catechol-O-methyltransferase gene DOID:4676 uremia ISO RGD:737102 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte PMID:7437264|REF_RGD_ID:8662343 8774319 Comt catechol-O-methyltransferase gene DOID:5419 schizophrenia ISO RGD:737102 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM | ClinVar Annotator: match by term: Schizophrenia | ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:10395222|PMID:10459407|PMID:11171904|PMID:11381111|PMID:11502905|PMID:11772685|PMID:11925305|PMID:12192614|PMID:12359690|PMID:12402217|PMID:12436243|PMID:12595695|PMID:12611827|PMID:12716966|PMID:12842306|PMID:14966473|PMID:15169701|PMID:15457404|PMID:15457497|PMID:15645182|PMID:15652872|PMID:15821730|PMID:15824744|PMID:15935994|PMID:16043133|PMID:16130008|PMID:16135635|PMID:16275815|PMID:16513880|PMID:16542388|PMID:17504906|PMID:21280081|PMID:21681106|PMID:25741868|PMID:30208311|PMID:7304673|PMID:7585135|PMID:8807664|PMID:8886163|PMID:8941353|PMID:9110364 8774319 Comt catechol-O-methyltransferase gene DOID:5419 schizophrenia susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs6267) (human) PMID:19881467|REF_RGD_ID:8662335 8774319 Comt catechol-O-methyltransferase gene DOID:5419 schizophrenia treatment ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:26255563|REF_RGD_ID:11353078 8774319 Comt catechol-O-methyltransferase gene DOID:594 panic disorder ISO RGD:737102 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM PMID:10395222|PMID:10459407|PMID:11171904|PMID:11381111|PMID:11502905|PMID:11772685|PMID:11925305|PMID:12192614|PMID:12359690|PMID:12402217|PMID:12436243|PMID:12595695|PMID:12611827|PMID:12716966|PMID:12842306|PMID:14966473|PMID:15169701|PMID:15457404|PMID:15457497|PMID:15645182|PMID:15652872|PMID:15821730|PMID:15824744|PMID:15935994|PMID:16043133|PMID:16130008|PMID:16135635|PMID:16275815|PMID:16513880|PMID:16542388|PMID:17504906|PMID:21280081|PMID:25741868|PMID:7304673|PMID:7585135|PMID:8807664|PMID:8886163|PMID:8941353|PMID:9110364 8774319 Comt catechol-O-methyltransferase gene DOID:612 primary immunodeficiency disease ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8774319 Comt catechol-O-methyltransferase gene DOID:630 genetic disease ISO RGD:737102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774319 Comt catechol-O-methyltransferase gene DOID:631 fibromyalgia severity ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V158M(human) PMID:24762091|REF_RGD_ID:13450944 8774319 Comt catechol-O-methyltransferase gene DOID:670 amphetamine abuse ISO RGD:737102 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: methamphetamine use disorder PMID:25741868 8774319 Comt catechol-O-methyltransferase gene DOID:670 amphetamine abuse susceptibility ISO RGD:737102 D RGD:9068941 20240125 RGD DNA:SNPs,haplotypes:exon,3'utr: (rs4680, rs165599) (human) PMID:21934638|REF_RGD_ID:401940147 8774319 Comt catechol-O-methyltransferase gene DOID:670 amphetamine abuse susceptibility ISO RGD:737102 D RGD:9068941 20240127 RGD DNA:SNP:cd: p.V158M (human) PMID:15274053|PMID:17187009|PMID:33544778|REF_RGD_ID:401940124|REF_RGD_ID:401940150|REF_RGD_ID:401959602 8774319 Comt catechol-O-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341023 8774319 Comt catechol-O-methyltransferase gene DOID:8893 psoriasis ISO RGD:737102 D RGD:9068941 20200609 RGD PMID:24001377|REF_RGD_ID:8662328 8774319 Comt catechol-O-methyltransferase gene DOID:9000081 Lymphatic Metastasis ISO RGD:737102 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:missense mutation:cds:p.V108/158M (human) PMID:10755383|REF_RGD_ID:8662330 8774319 Comt catechol-O-methyltransferase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:10378 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland, cytoplasm PMID:6337293|REF_RGD_ID:2289734 8774319 Comt catechol-O-methyltransferase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18424824 8774319 Comt catechol-O-methyltransferase gene DOID:9000439 Schizophrenia Spectrum and Other Psychotic Disorders ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28195063 8774319 Comt catechol-O-methyltransferase gene DOID:9000641 Pain ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:17084978|REF_RGD_ID:2289747 8774319 Comt catechol-O-methyltransferase gene DOID:9000641 Pain ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 8774319 Comt catechol-O-methyltransferase gene DOID:9000641 Pain severity ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Multiple Sclerosis;DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:24290452|REF_RGD_ID:13450948 8774319 Comt catechol-O-methyltransferase gene DOID:9000998 Brain Injuries ISO RGD:2379 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:17240060|REF_RGD_ID:2289740 8774319 Comt catechol-O-methyltransferase gene DOID:9001310 Tobacco Use Disorder ISO RGD:737102 D RGD:9068941 20240125 RGD DNA:hypermethylation:promoter PMID:24902721|REF_RGD_ID:401940112 8774319 Comt catechol-O-methyltransferase gene DOID:9002211 Hyperalgesia ISO RGD:10378 D RGD:9068941 20200609 RGD PMID:20726980|REF_RGD_ID:8662326 8774319 Comt catechol-O-methyltransferase gene DOID:9002211 Hyperalgesia ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28195063 8774319 Comt catechol-O-methyltransferase gene DOID:9002231 Fetal Growth Retardation ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23667712 8774319 Comt catechol-O-methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8774319 Comt catechol-O-methyltransferase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:10378 D RGD:9068941 20200609 RGD PMID:25242632|REF_RGD_ID:13450949 8774319 Comt catechol-O-methyltransferase gene DOID:9002801 Recurrence susceptibility ISO RGD:737102 D RGD:9068941 20240125 RGD associated with heroin dependence; DNA:SNP:exon 4: (rs4680) p.V158M (human) PMID:26345603|REF_RGD_ID:11534843 8774319 Comt catechol-O-methyltransferase gene DOID:9003392 Neck Pain severity ISO RGD:737102 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:missense mutation:cds:p.V158M (human) PMID:21898113|REF_RGD_ID:8662332 8774319 Comt catechol-O-methyltransferase gene DOID:9003805 Catalepsy ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:12711835|REF_RGD_ID:2289788 8774319 Comt catechol-O-methyltransferase gene DOID:9003871 Venous Thrombosis ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8774319 Comt catechol-O-methyltransferase gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism: :324G>A PMID:18064318|REF_RGD_ID:2289709 8774319 Comt catechol-O-methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8774319 Comt catechol-O-methyltransferase gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898482 8774319 Comt catechol-O-methyltransferase gene DOID:9004890 Paranoid Disorders susceptibility ISO RGD:737102 D RGD:9068941 20231228 RGD associated with cocaine dependence; DNA:SNPs,haplotypes:multiple PMID:21656904|REF_RGD_ID:401940117 8774319 Comt catechol-O-methyltransferase gene DOID:9005228 Musculoskeletal Pain ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 8774319 Comt catechol-O-methyltransferase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18704099 8774319 Comt catechol-O-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2379 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:12010186|REF_RGD_ID:2289789 8774319 Comt catechol-O-methyltransferase gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 8774319 Comt catechol-O-methyltransferase gene DOID:9006617 Fatigue severity ISO RGD:737102 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:missense mutation:cds:p.V158M (human) PMID:21898113|REF_RGD_ID:8662332 8774319 Comt catechol-O-methyltransferase gene DOID:9007370 Child Behavior Disorders susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Fetal Growth Retardation; DNA:polymorphism:cds:rs4680(p.V158M)(human) PMID:22070166|REF_RGD_ID:13451124 8774319 Comt catechol-O-methyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2379 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21138988|REF_RGD_ID:7241599 8774319 Comt catechol-O-methyltransferase gene DOID:9008023 Memory Disorders ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28195063 8774319 Comt catechol-O-methyltransferase gene DOID:9008359 Acute Pain susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.V158M(human) PMID:25102390|REF_RGD_ID:13450943 8774319 Comt catechol-O-methyltransferase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2379 D RGD:9068941 20200609 RGD PMID:16437585|REF_RGD_ID:2289781 8774319 Comt catechol-O-methyltransferase gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:737102 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8774319 Comt catechol-O-methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:737102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15455371|PMID:16077979|PMID:9407957 8774319 Comt catechol-O-methyltransferase gene DOID:9009066 Glucocorticoid Deficiency 5 ISO RGD:737102 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 5 PMID:25741868|PMID:28492532 8774319 Comt catechol-O-methyltransferase gene DOID:9505 cannabis abuse ISO RGD:737102 D RGD:9068941 20240201 RGD associated with alcohol use disorder; DNA:hypermethylation:promoter PMID:33781176|REF_RGD_ID:401959741 8774319 Comt catechol-O-methyltransferase gene DOID:9505 cannabis abuse onset ISO RGD:737102 D RGD:9068941 20240127 RGD DNA:SNP:cd: p.V158M (human) PMID:30790675|REF_RGD_ID:401959592 8774319 Comt catechol-O-methyltransferase gene DOID:9505 cannabis abuse susceptibility ISO RGD:737102 D RGD:9068941 20240125 RGD DNA:SNP:cd: p.V158M (human) PMID:19259017|REF_RGD_ID:401959590 8774319 Comt catechol-O-methyltransferase gene DOID:9828 neonatal abstinence syndrome ameliorates ISO RGD:737102 D RGD:9068941 20240314 RGD associated with maternal opioid abuse;DNA:SNP:intron (rs740603) (human) PMID:26233486|REF_RGD_ID:11079504 8774319 Comt catechol-O-methyltransferase gene DOID:9828 neonatal abstinence syndrome treatment ISO RGD:737102 D RGD:9068941 20240111 RGD DNA:SNPs:cds: (rs4680,rs750603) c.158A>G (human) PMID:27983768|REF_RGD_ID:401950496 8774319 Comt catechol-O-methyltransferase gene DOID:9828 neonatal abstinence syndrome treatment ISO RGD:737102 D RGD:9068941 20240118 RGD DNA:SNP: 158A>G (rs4680) (human) PMID:23632726|REF_RGD_ID:11097592 8774319 Comt catechol-O-methyltransferase gene DOID:9970 obesity susceptibility ISO RGD:737102 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:17497175|REF_RGD_ID:2289713 8774319 Comt catechol-O-methyltransferase gene DOID:9974 drug dependence susceptibility ISO RGD:737102 D RGD:9068941 20231228 RGD associated with Trauma and Stressor Related Disorders;DNA:polymorphism:exon: p.V158M (human) PMID:31150143|REF_RGD_ID:401940120 8774319 Comt catechol-O-methyltransferase gene DOID:9975 cocaine dependence susceptibility ISO RGD:737102 D RGD:9068941 20240118 RGD DNA:SNPs,haplotypes:exon: p.V158M (rs4680, rs737865, rs165688) (human) PMID:18704099|REF_RGD_ID:401959302 8774319 Comt catechol-O-methyltransferase gene DOID:9976 heroin dependence ISO RGD:737102 D RGD:9068941 20231228 RGD DNA:SNP:exon 5: (rs769224) (human) PMID:33577997|REF_RGD_ID:401940110 8774319 Comt catechol-O-methyltransferase gene DOID:9976 heroin dependence onset ISO RGD:737102 D RGD:9068941 20231230 RGD DNA:SNP:exon 1: (rs737866) (Human) PMID:21857968|REF_RGD_ID:401940140 8774319 Comt catechol-O-methyltransferase gene DOID:9976 heroin dependence onset ISO RGD:737102 D RGD:9068941 20240118 RGD DNA:SNP:: (rs737866) (Human) PMID:23155402|REF_RGD_ID:401959234 8774319 Comt catechol-O-methyltransferase gene DOID:9976 heroin dependence severity ISO RGD:737102 D RGD:9068941 20240127 RGD DNA:SNP:cd: p.V158M (human) PMID:33544778|REF_RGD_ID:401959602 8774319 Comt catechol-O-methyltransferase gene DOID:9976 heroin dependence susceptibility ISO RGD:737102 D RGD:9068941 20231228 RGD DNA:SNP:exon 4: (rs4680) p.V158M (human) PMID:20728009|REF_RGD_ID:401940113 8774319 Comt catechol-O-methyltransferase gene DOID:9976 heroin dependence susceptibility ISO RGD:737102 D RGD:9068941 20240104 RGD DNA:SNP:-287A>G (human) PMID:12476424|REF_RGD_ID:401940154 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17261581 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0050848 obstructive sleep apnea ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:17013605|REF_RGD_ID:2298862 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1352761 D RGD:9068941 20220826 RGD protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0060058 lymphoma ISO RGD:1352761 D RGD:9068941 20200609 RGD DNA:point mutation:codon 494:Glu-Asp PMID:9047386|REF_RGD_ID:2298891 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0060074 ductal carcinoma in situ ISO RGD:1352761 D RGD:9068941 20200609 RGD DNA:amplification PMID:17375183|REF_RGD_ID:2298754 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0060180 colitis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0060180 colitis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:18623154|REF_RGD_ID:2298776 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0060322 mastoiditis ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0080855 Parkinsonism ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:18534259|REF_RGD_ID:2302392 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18241655|REF_RGD_ID:2298789 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:0081292 traumatic brain injury ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593|PMID:28642177 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1059 intellectual disability ISO RGD:1352761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:10754 otitis media ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:10763 hypertension ISO RGD:1352761 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:19018797|PMID:27659729|PMID:32147540 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:10763 hypertension ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:16840655|REF_RGD_ID:2298761 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:10964 cholesteatoma of middle ear ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:11054 urinary bladder cancer ISO RGD:1551095 D RGD:9068941 20200609 RGD PMID:18089718|REF_RGD_ID:2293094 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:18188593|REF_RGD_ID:2298753 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:11132 prostatic hypertrophy ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:25546515|REF_RGD_ID:11566048 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:11383 cryptorchidism ISO RGD:1551095 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:22777528|REF_RGD_ID:11567213 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:11713 diabetic angiopathy ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:12236 primary biliary cholangitis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:13141 uveitis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:uvea PMID:18087711|REF_RGD_ID:2298858 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:13580 cholestasis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:13619 extrahepatic cholestasis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:30026087 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1591 renovascular hypertension ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, kidney PMID:18032469|REF_RGD_ID:2298840 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1679 cystitis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22099998 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1793 pancreatic cancer ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:9918209|REF_RGD_ID:2298892 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1824 status epilepticus ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, hippocampus PMID:17727632|REF_RGD_ID:2298852 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1826 epilepsy treatment ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:28303499|REF_RGD_ID:13524859 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2316 brain ischemia ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18628779 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2349 arteriosclerosis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:18637019|REF_RGD_ID:2298774 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:15073126|REF_RGD_ID:13506768 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:1551095 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15712212|REF_RGD_ID:2298768 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2746 glycogen storage disease V ISO RGD:1352761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2876 laryngeal squamous cell carcinoma severity ISO RGD:1352761 D RGD:9068941 20211001 RGD associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) PMID:19513509|REF_RGD_ID:150429781 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:299 adenocarcinoma ISO RGD:1352761 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:3070 high grade glioma ISO RGD:1352761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1551095 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1352761 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:16287968|REF_RGD_ID:2298765 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:4450 renal cell carcinoma ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18089796 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:4450 renal cell carcinoma ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:17290398|REF_RGD_ID:2298755 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:4450 renal cell carcinoma ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:12663495|REF_RGD_ID:2298771 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:5082 liver cirrhosis ISO RGD:727889 D RGD:9068941 20240125 RGD associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:5199 ureteral obstruction ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:630 genetic disease ISO RGD:1352761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:6432 pulmonary hypertension ISO RGD:1551095 D RGD:9068941 20230713 RGD associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse) PMID:30172777|REF_RGD_ID:329955443 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:6432 pulmonary hypertension ISO RGD:727889 D RGD:9068941 20200609 RGD protein:altered localization:nucleus, blood vessel endothelial cell, lung PMID:17934115|REF_RGD_ID:2298843 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:670 amphetamine abuse ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:769 neuroblastoma ISO RGD:1352761 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:783 end stage renal disease ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:783 end stage renal disease ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18077597|REF_RGD_ID:2298859 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:8577 ulcerative colitis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15955209 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:8634 prostate carcinoma in situ ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16278667|REF_RGD_ID:2298767 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:8634 prostate carcinoma in situ ISO RGD:1551095 D RGD:9068941 20200609 RGD PMID:15570007|REF_RGD_ID:2298769 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:8778 Crohn's disease ISO RGD:1352761 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:altered localization, increased expression:nucleus, uterine cervix PMID:16850495|REF_RGD_ID:2298759 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000039 Spinal Cord Injuries ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:17918744|REF_RGD_ID:2298849 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352761 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:altered localization:nucleus, prostate gland PMID:17020979|REF_RGD_ID:2298757 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000099 Experimental Colitis treatment ISO RGD:727889 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000113 Pneumococcal Meningitis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:brain, nucleus PMID:25443778|REF_RGD_ID:9831197 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:1352761 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:727889 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney cortex (rat) PMID:32416216|REF_RGD_ID:401793731 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:727889 D RGD:9068941 20240125 RGD protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000918 Disease Progression ISO RGD:1352761 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34626302|PMID:34973135 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9000998 Brain Injuries ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:18288455|REF_RGD_ID:2298787 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9001161 Autoinflammatory Disease, Familial, Behcet-Like-3 ISO RGD:1352761 D RGD:7240710 20190717 OMIM 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9001161 Autoinflammatory Disease, Familial, Behcet-Like-3 ISO RGD:1352761 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition PMID:25741868|PMID:28492532|PMID:28600438|PMID:29758562|PMID:32969189|PMID:35412596|PMID:36926348 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9001708 Hemorrhagic Shock ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased phosphorylation, altered location:nucleus, endothelial cell, lung PMID:17950083|REF_RGD_ID:2298841 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9001708 Hemorrhagic Shock ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:17950078|REF_RGD_ID:2298842 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9001708 Hemorrhagic Shock ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased phosphorylation:nucleus, liver PMID:18469645|REF_RGD_ID:2298781 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17900838 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9002170 Experimental Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:altered localization, increased expression:nucleus, prostate gland PMID:16278667|REF_RGD_ID:2298767 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9002676 Cerebral Hemorrhage ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:18314621|REF_RGD_ID:2298752 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9002928 Colonic Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20715105 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:altered localization, increased expression:nucleus, uterine cervix PMID:16850495|REF_RGD_ID:2298759 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17098279|REF_RGD_ID:2298756 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352761 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9003936 Cardiomegaly ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:15728586|REF_RGD_ID:1580656 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9003936 Cardiomegaly treatment ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:15749748|REF_RGD_ID:1581122 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004009 Reperfusion Injury ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20302854|PMID:23743330 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004009 Reperfusion Injury ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, liver PMID:18621400|REF_RGD_ID:2298777 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004250 Hepatic Insufficiency ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004283 Transplant Rejection treatment ISO RGD:727889 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004464 Skin Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23069812 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004484 Sepsis ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, lung PMID:17626913|REF_RGD_ID:2298853 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19896475|PMID:29501572 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:727889 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:ventricle myocardium, heart left ventricle PMID:18543397|REF_RGD_ID:2298779 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9004649 Heat Stroke ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1551095 D RGD:9068941 20200609 RGD protein:decreased expression:peritoneal macrophage PMID:16288051|REF_RGD_ID:2298764 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9005236 Drug Eruptions ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9005369 Hepatomegaly ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138235 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:18633731|REF_RGD_ID:2298775 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, skeletal muscle, liver PMID:18500427|REF_RGD_ID:2298780 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007491 Childhood Schizophrenia ISO RGD:1352761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007502 Brain Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23069812|PMID:29501572 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007692 Insulin Resistance ISO RGD:1551095 D RGD:9068941 20200609 RGD PMID:18198644|REF_RGD_ID:2298857 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007692 Insulin Resistance ISO RGD:727889 D RGD:9068941 20200609 RGD protein:altered localization:soleus PMID:18073321|REF_RGD_ID:2298860 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:727889 D RGD:9068941 20230824 RGD PMID:22079846|REF_RGD_ID:401794136 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:727889 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:18636044|REF_RGD_ID:2298773 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:727889 D RGD:9068941 20220923 RGD PMID:31583047|REF_RGD_ID:155230831 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:727889 D RGD:9068941 20200609 RGD protein:increased expression:nucleus, brain PMID:18590723|REF_RGD_ID:2298778 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154269 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:16322341|PMID:16728586|REF_RGD_ID:2298762|REF_RGD_ID:2298763 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9206 Barrett's esophagus ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23500658 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9452 steatotic liver disease ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:21643627|REF_RGD_ID:5135028 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9588 encephalitis ISO RGD:727889 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 8774326 Rela RELA proto-oncogene, NF-kB subunit gene DOID:9970 obesity ISO RGD:1352761 D RGD:9068941 20200609 RGD PMID:18356846|REF_RGD_ID:2298856 8774344 Prep prolyl endopeptidase gene DOID:10914 amnestic disorder ISO RGD:732518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8691432 8774344 Prep prolyl endopeptidase gene DOID:1596 depressive disorder ISO RGD:620841 D RGD:9068941 20211224 RGD protein:altered activity:frontal cortex, striatum, hypothalamus (rat) PMID:17415460|REF_RGD_ID:1626457 8774344 Prep prolyl endopeptidase gene DOID:4543 retrograde amnesia ISO RGD:732518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18318186 8774344 Prep prolyl endopeptidase gene DOID:630 genetic disease ISO RGD:732518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774344 Prep prolyl endopeptidase gene DOID:9000217 Stomach Neoplasms ISO RGD:732518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8774344 Prep prolyl endopeptidase gene DOID:9000918 Disease Progression ISO RGD:732518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8774363 Iftap intraflagellar transport associated protein gene DOID:0080600 COVID-19 ISO RGD:1603277 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8774363 Iftap intraflagellar transport associated protein gene DOID:0080915 histiocytic sarcoma ISO RGD:1603277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis 8774363 Iftap intraflagellar transport associated protein gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1603277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 8774363 Iftap intraflagellar transport associated protein gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1603277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:11133745|PMID:24290284|PMID:25739914|PMID:28492532|PMID:8810255 8774363 Iftap intraflagellar transport associated protein gene DOID:1059 intellectual disability ISO RGD:1603277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8774383 Gmpr2 guanosine monophosphate reductase 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1343245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8774383 Gmpr2 guanosine monophosphate reductase 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1343245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8774383 Gmpr2 guanosine monophosphate reductase 2 gene DOID:299 adenocarcinoma ISO RGD:1343245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8774383 Gmpr2 guanosine monophosphate reductase 2 gene DOID:630 genetic disease ISO RGD:1343245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774383 Gmpr2 guanosine monophosphate reductase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8774383 Gmpr2 guanosine monophosphate reductase 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1343245 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8774383 Gmpr2 guanosine monophosphate reductase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343245 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8774400 Limk2 LIM domain kinase 2 gene DOID:630 genetic disease ISO RGD:733238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774400 Limk2 LIM domain kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733238 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8774439 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1351073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774439 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620449 D RGD:9068941 20200609 RGD PMID:27256506|REF_RGD_ID:13792677 8774439 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:620449 D RGD:9068941 20200609 RGD PMID:30195603|REF_RGD_ID:13792615 8774439 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32430360 8774439 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:9006459 BURATTI-HAREL SYNDROME ISO RGD:1351073 D RGD:7240710 20210811 OMIM 8774439 Siah1 siah E3 ubiquitin protein ligase 1 gene DOID:9006459 BURATTI-HAREL SYNDROME ISO RGD:1351073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Buratti-Harel syndrome PMID:25741868|PMID:32430360 8774454 B4galnt1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:0110777 hereditary spastic paraplegia 26 ISO RGD:731293 D RGD:7240710 20180130 OMIM 8774454 B4galnt1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:0110777 hereditary spastic paraplegia 26 ISO RGD:731293 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 PMID:16199547|PMID:17576681|PMID:23746551|PMID:25741868|PMID:28492532|PMID:28709807|PMID:29983310|PMID:30521973|PMID:31812852|PMID:32214227|PMID:9536098 8774454 B4galnt1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:607 paraplegia ISO RGD:731293 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:23746551|PMID:24103911|PMID:24283893|PMID:25741868|PMID:28492532|PMID:28709807|PMID:29983310|PMID:30521973|PMID:31812852|PMID:32214227|PMID:9536098 8774454 B4galnt1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:731293 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23746551|PMID:25741868|PMID:28492532|PMID:28709807|PMID:29983310|PMID:30521973|PMID:31812852|PMID:32214227 8774454 B4galnt1 beta-1,4-N-acetyl-galactosaminyltransferase 1 gene DOID:6846 familial melanoma ISO RGD:731293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8774473 Rfx1 regulatory factor X1 gene DOID:630 genetic disease ISO RGD:1315268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774501 Fate1 fetal and adult testis expressed 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8774501 Fate1 fetal and adult testis expressed 1 gene DOID:12849 autistic disorder ISO RGD:1353364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8774501 Fate1 fetal and adult testis expressed 1 gene DOID:630 genetic disease ISO RGD:1353364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774501 Fate1 fetal and adult testis expressed 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15580283 8774588 CUNH19orf47 chromosome unknown C19orf47 homolog gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1605879 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8774588 CUNH19orf47 chromosome unknown C19orf47 homolog gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8774588 CUNH19orf47 chromosome unknown C19orf47 homolog gene DOID:1342 congenital hypoplastic anemia ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8774588 CUNH19orf47 chromosome unknown C19orf47 homolog gene DOID:2340 craniosynostosis ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8774588 CUNH19orf47 chromosome unknown C19orf47 homolog gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8774588 CUNH19orf47 chromosome unknown C19orf47 homolog gene DOID:9269 maple syrup urine disease ISO RGD:1605879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8774588 CUNH19orf47 chromosome unknown C19orf47 homolog gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605879 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8774616 P3h3 prolyl 3-hydroxylase 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1313881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8774616 P3h3 prolyl 3-hydroxylase 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8774616 P3h3 prolyl 3-hydroxylase 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8774616 P3h3 prolyl 3-hydroxylase 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8774616 P3h3 prolyl 3-hydroxylase 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8774616 P3h3 prolyl 3-hydroxylase 3 gene DOID:630 genetic disease ISO RGD:1313881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774616 P3h3 prolyl 3-hydroxylase 3 gene DOID:8398 osteoarthritis ISO RGD:1313881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8774616 P3h3 prolyl 3-hydroxylase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1313881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8774641 Exo1 exonuclease 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1319820 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8774641 Exo1 exonuclease 1 gene DOID:0080600 COVID-19 ISO RGD:1319820 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8774641 Exo1 exonuclease 1 gene DOID:0111261 fumarase deficiency ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 8774641 Exo1 exonuclease 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8774641 Exo1 exonuclease 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8774641 Exo1 exonuclease 1 gene DOID:630 genetic disease ISO RGD:1319820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774641 Exo1 exonuclease 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8774641 Exo1 exonuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8774641 Exo1 exonuclease 1 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1319820 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 8774641 Exo1 exonuclease 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656264 8774641 Exo1 exonuclease 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 8774641 Exo1 exonuclease 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8774666 Cryba4 crystallin beta A4 gene DOID:0110270 cataract 17 multiple types ISO RGD:733543 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cataract 17 multiple types PMID:12360425|PMID:16110300|PMID:17460281|PMID:17576681|PMID:20565250|PMID:21402992|PMID:21972112|PMID:25086334|PMID:25741868|PMID:28492532|PMID:32854469|PMID:33223529|PMID:9536098 8774666 Cryba4 crystallin beta A4 gene DOID:0110271 cataract 23 ISO RGD:733543 D RGD:7240710 20180130 OMIM 8774666 Cryba4 crystallin beta A4 gene DOID:0110271 cataract 23 ISO RGD:733543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 23 | ClinVar Annotator: match by term: Cataract 23, multiple types PMID:15452067|PMID:16199547|PMID:16960806|PMID:20577656|PMID:24968223|PMID:25741868|PMID:26694549|PMID:28166811|PMID:28450710|PMID:28492532|PMID:31555371 8774666 Cryba4 crystallin beta A4 gene DOID:5419 schizophrenia ISO RGD:733543 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8774666 Cryba4 crystallin beta A4 gene DOID:630 genetic disease ISO RGD:733543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8774666 Cryba4 crystallin beta A4 gene DOID:83 cataract ISO RGD:733543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:28272538|PMID:28492532 8774666 Cryba4 crystallin beta A4 gene DOID:9001495 Cataract, Lamellar 2 ISO RGD:733543 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cataract, lamellar 2 PMID:25741868|PMID:26694549|PMID:28492532 8774666 Cryba4 crystallin beta A4 gene DOID:9002474 Isolated Microphthalmia with Cataract 4 ISO RGD:733543 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 4 PMID:25741868|PMID:26694549|PMID:28492532 8774690 Mknk2 MAPK interacting serine/threonine kinase 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1313930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8774690 Mknk2 MAPK interacting serine/threonine kinase 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1313930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8774690 Mknk2 MAPK interacting serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1313930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774690 Mknk2 MAPK interacting serine/threonine kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8774724 Mindy4 MINDY lysine 48 deubiquitinase 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604570 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8774724 Mindy4 MINDY lysine 48 deubiquitinase 4 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1604570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 8774724 Mindy4 MINDY lysine 48 deubiquitinase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8774724 Mindy4 MINDY lysine 48 deubiquitinase 4 gene DOID:630 genetic disease ISO RGD:1604570 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774746 Polrmt RNA polymerase mitochondrial gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1312131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8774746 Polrmt RNA polymerase mitochondrial gene DOID:0070428 combined oxidative phosphorylation deficiency 55 ISO RGD:1312131 D RGD:7240710 20220223 OMIM 8774746 Polrmt RNA polymerase mitochondrial gene DOID:0070428 combined oxidative phosphorylation deficiency 55 ISO RGD:1312131 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 55 PMID:25741868|PMID:28492532|PMID:33602924 8774746 Polrmt RNA polymerase mitochondrial gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1312131 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:25741868 8774746 Polrmt RNA polymerase mitochondrial gene DOID:2843 long QT syndrome ISO RGD:1312131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8774746 Polrmt RNA polymerase mitochondrial gene DOID:5339 cyclic hematopoiesis ISO RGD:1312131 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8774746 Polrmt RNA polymerase mitochondrial gene DOID:630 genetic disease ISO RGD:1312131 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8774773 Nudcd1 NudC domain containing 1 gene DOID:630 genetic disease ISO RGD:1349940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:10652 Alzheimer's disease ISO RGD:69120 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:9701251|REF_RGD_ID:9835364 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:11832 visual epilepsy ISO RGD:69065 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:10349840|REF_RGD_ID:9835366 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:1470 major depressive disorder ISO RGD:69120 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:20067857|REF_RGD_ID:9835359 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:1596 depressive disorder ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:21596067|REF_RGD_ID:6907449 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:224 transient cerebral ischemia ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:14705148|REF_RGD_ID:1302269 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:224 transient cerebral ischemia ISO RGD:737403 D RGD:9068941 20200609 RGD protein:increased expression:cortex,striatum: PMID:11323519|REF_RGD_ID:9835381 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:299 adenocarcinoma ISO RGD:69120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877079 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:3525 middle cerebral artery infarction ISO RGD:69065 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:19352052|REF_RGD_ID:9850083 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:3525 middle cerebral artery infarction ISO RGD:737403 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:16403464|REF_RGD_ID:9835380 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:737403 D RGD:9068941 20200609 RGD PMID:11323519|REF_RGD_ID:9835381 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:4947 cholangiocarcinoma ISO RGD:69120 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:cholangiocyte: PMID:20724592|REF_RGD_ID:9835357 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:630 genetic disease ISO RGD:69120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:9000998 Brain Injuries ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:11421591|REF_RGD_ID:9835358 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:9002211 Hyperalgesia treatment ISO RGD:69065 D RGD:9068941 20200609 RGD PMID:17179954|REF_RGD_ID:9835416 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:69120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877079 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:9004610 Acute Lung Injury ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung,blood vessel: PMID:17136598|REF_RGD_ID:9835397 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:9007715 Endometrial Neoplasms ISO RGD:69120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877079 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:69065 D RGD:9068941 20200609 RGD PMID:18055876|REF_RGD_ID:9835369 8774795 Pawr pro-apoptotic WT1 regulator gene DOID:9008091 Optic Nerve Injuries ISO RGD:69065 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:12836167|REF_RGD_ID:1299297 8774805 Spop speckle type BTB/POZ protein gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1323163 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8774805 Spop speckle type BTB/POZ protein gene DOID:10283 prostate cancer ISO RGD:1323163 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:23265383|PMID:25741868|PMID:26619011 8774805 Spop speckle type BTB/POZ protein gene DOID:10534 stomach cancer exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD protein:decreased expression:stomach (human) PMID:25204354|REF_RGD_ID:153298922 8774805 Spop speckle type BTB/POZ protein gene DOID:2526 prostate adenocarcinoma ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:23265383|PMID:26619011 8774805 Spop speckle type BTB/POZ protein gene DOID:363 uterine cancer ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 8774805 Spop speckle type BTB/POZ protein gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA, protein:increased expression:lung (human) PMID:28927035|REF_RGD_ID:153298923 8774805 Spop speckle type BTB/POZ protein gene DOID:3910 lung adenocarcinoma ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA, protein:increased expression:lung (human) PMID:31105033|REF_RGD_ID:153298927 8774805 Spop speckle type BTB/POZ protein gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1323163 D RGD:9068941 20220729 RGD human gene and cell line in mouse model PMID:30607139|REF_RGD_ID:153298920 8774805 Spop speckle type BTB/POZ protein gene DOID:630 genetic disease ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32109420 8774805 Spop speckle type BTB/POZ protein gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD human cells in mouse model PMID:33209975|REF_RGD_ID:153298924 8774805 Spop speckle type BTB/POZ protein gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA:decreased expression:liver (human) PMID:26156804|REF_RGD_ID:11074965 8774805 Spop speckle type BTB/POZ protein gene DOID:687 hepatoblastoma ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA:decreased expression:liver (human) PMID:24912477|REF_RGD_ID:153298925 8774805 Spop speckle type BTB/POZ protein gene DOID:9001256 Nabais Sa-de Vries Syndrome, Type 1 ISO RGD:1323163 D RGD:7240710 20200520 OMIM 8774805 Spop speckle type BTB/POZ protein gene DOID:9001256 Nabais Sa-de Vries Syndrome, Type 1 ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies PMID:25741868|PMID:32109420 8774805 Spop speckle type BTB/POZ protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22610119|PMID:29295717|PMID:29610475 8774805 Spop speckle type BTB/POZ protein gene DOID:9004007 Nabais Sa-de Vries Syndrome, Type 2 ISO RGD:1323163 D RGD:7240710 20200520 OMIM 8774805 Spop speckle type BTB/POZ protein gene DOID:9004007 Nabais Sa-de Vries Syndrome, Type 2 ISO RGD:1323163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NABAIS SA-DE VRIES SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies PMID:25741868|PMID:32109420 8774805 Spop speckle type BTB/POZ protein gene DOID:9007715 Endometrial Neoplasms ISO RGD:1323163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 8774805 Spop speckle type BTB/POZ protein gene DOID:9008138 Ductal Carcinoma ISO RGD:1323163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 8774805 Spop speckle type BTB/POZ protein gene DOID:9256 colorectal cancer ISO RGD:1323163 D RGD:9068941 20220729 RGD mRNA:decreased expression:colorectum (human) PMID:30171794|REF_RGD_ID:153298926 8774805 Spop speckle type BTB/POZ protein gene DOID:9256 colorectal cancer exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD DNA:hypermethylation:promoter (human) PMID:28032859|REF_RGD_ID:153298921 8774805 Spop speckle type BTB/POZ protein gene DOID:9256 colorectal cancer exacerbates ISO RGD:1323163 D RGD:9068941 20220729 RGD protein:decreased expression:colorectum (human) PMID:26022775|REF_RGD_ID:11056110 8774820 LOC102025112 olfactory receptor 51T1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1352520 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8774820 LOC102025112 olfactory receptor 51T1 gene DOID:630 genetic disease ISO RGD:1352520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774829 Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:0050741 alcohol dependence ISO RGD:1344246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:10090900|PMID:15863807|PMID:17718394|PMID:17923853|PMID:3397059|PMID:3758060 8774829 Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1344246 D RGD:7240710 20240320 OMIM 8774829 Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:0060892 late onset Parkinson's disease ISO RGD:1344246 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:25741868 8774829 Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:1344246 D RGD:7240710 20240320 OMIM 8774829 Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:1574 alcohol use disorder ISO RGD:1344246 D RGD:9068941 20231026 CTD CTD Direct Evidence: marker/mechanism PMID:16404797 8774829 Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:1793 pancreatic cancer ISO RGD:1344246 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R272Q (human) PMID:19068087|REF_RGD_ID:2325313 8774829 Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:630 genetic disease ISO RGD:1344246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774829 Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1344246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16404797 8774829 Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8774829 Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:9002877 Parkinson's Disease, Mitochondrial ISO RGD:1344246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, mitochondrial PMID:15642852 8774829 Adh1c alcohol dehydrogenase 1C (class I), gamma polypeptide gene DOID:9007364 Mouth Neoplasms ISO RGD:1344246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138216 8774842 LOC102027002 lanosterol 14-alpha demethylase gene DOID:0060669 cerebral cavernous malformation ISO RGD:1345262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 8774842 LOC102027002 lanosterol 14-alpha demethylase gene DOID:0081289 Antley-Bixler syndrome ISO RGD:70832 D RGD:9068941 20210226 RGD PMID:21705796|REF_RGD_ID:41412188 8774842 LOC102027002 lanosterol 14-alpha demethylase gene DOID:2843 long QT syndrome ISO RGD:1345262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8774842 LOC102027002 lanosterol 14-alpha demethylase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8774842 LOC102027002 lanosterol 14-alpha demethylase gene DOID:630 genetic disease ISO RGD:1345262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774842 LOC102027002 lanosterol 14-alpha demethylase gene DOID:83 cataract ISO RGD:1345262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 8774842 LOC102027002 lanosterol 14-alpha demethylase gene DOID:9000808 Hypercholesterolemia ISO RGD:2481 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:16472823|REF_RGD_ID:13782194 8774842 LOC102027002 lanosterol 14-alpha demethylase gene DOID:9351 diabetes mellitus ISO RGD:2481 D RGD:9068941 20210219 RGD mRNA,protein:decreased expression:liver PMID:10876162|REF_RGD_ID:41412168 8774859 Rab11fip3 RAB11 family interacting protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353989 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8774859 Rab11fip3 RAB11 family interacting protein 3 gene DOID:1826 epilepsy ISO RGD:1353989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 8774859 Rab11fip3 RAB11 family interacting protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8774859 Rab11fip3 RAB11 family interacting protein 3 gene DOID:630 genetic disease ISO RGD:1353989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774884 Lcn8 lipocalin 8 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8774884 Lcn8 lipocalin 8 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1343207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8774884 Lcn8 lipocalin 8 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1343207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8774884 Lcn8 lipocalin 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8774884 Lcn8 lipocalin 8 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8774884 Lcn8 lipocalin 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8774884 Lcn8 lipocalin 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8774884 Lcn8 lipocalin 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8774884 Lcn8 lipocalin 8 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343207 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8774884 Lcn8 lipocalin 8 gene DOID:3652 Leigh disease ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8774884 Lcn8 lipocalin 8 gene DOID:630 genetic disease ISO RGD:1343207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8774884 Lcn8 lipocalin 8 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1343207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8774894 Phox2b paired like homeobox 2B gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1347823 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation PMID:10613788|PMID:12640453|PMID:14566559|PMID:14608649|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:16763219|PMID:16830328|PMID:16873766|PMID:16888290|PMID:17637745|PMID:17765533|PMID:17928950|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:20301600|PMID:20456320|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26063465|PMID:27013732|PMID:27153395|PMID:28422456|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29704303|PMID:30672101|PMID:32573669|PMID:34012823|PMID:34298581 8774894 Phox2b paired like homeobox 2B gene DOID:10487 Hirschsprung's disease ISO RGD:1347823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8774894 Phox2b paired like homeobox 2B gene DOID:2394 ovarian cancer ISO RGD:1347823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8774894 Phox2b paired like homeobox 2B gene DOID:630 genetic disease ISO RGD:1347823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12640453|PMID:14566559|PMID:14608649|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15657873|PMID:16888290|PMID:19058226|PMID:19422034|PMID:20208042|PMID:20301600|PMID:24033266|PMID:24169930|PMID:25741868|PMID:26063465|PMID:28371199|PMID:29531718 8774894 Phox2b paired like homeobox 2B gene DOID:769 neuroblastoma ISO RGD:1347823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma 8774894 Phox2b paired like homeobox 2B gene DOID:769 neuroblastoma exacerbates ISO RGD:1347823 D RGD:9068941 20220408 RGD human cell line in a mouse model PMID:26840262|REF_RGD_ID:151667442 8774894 Phox2b paired like homeobox 2B gene DOID:8778 Crohn's disease ISO RGD:1347823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756 8774894 Phox2b paired like homeobox 2B gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:1347823 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome PMID:10613788|PMID:12631670|PMID:12640453|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15338462|PMID:15657873|PMID:15888479|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16443855|PMID:16763219|PMID:16830328|PMID:16873766|PMID:17576681|PMID:17637745|PMID:17765533|PMID:17928950|PMID:18079495|PMID:18292934|PMID:19011468|PMID:19058226|PMID:20208042|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24728327|PMID:25156769|PMID:25741868|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28433712|PMID:28492532|PMID:28873162|PMID:29098737|PMID:29543228|PMID:29641532|PMID:29696799|PMID:29704303|PMID:30092902|PMID:30672101|PMID:30850150|PMID:33958749|PMID:9536098 8774894 Phox2b paired like homeobox 2B gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 susceptibility ISO RGD:1347823 D RGD:7240710 20240320 OMIM 8774894 Phox2b paired like homeobox 2B gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1347823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8774894 Phox2b paired like homeobox 2B gene DOID:9001305 Neuroblastoma 2 ISO RGD:1347823 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 PMID:12640453|PMID:15024693|PMID:15121777|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16443855|PMID:16691592|PMID:16763219|PMID:16830328|PMID:17637745|PMID:17765533|PMID:18079495|PMID:19011468|PMID:19058226|PMID:20208042|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24728327|PMID:25156769|PMID:25741868|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28492532|PMID:28873162|PMID:29641532|PMID:33958749 8774894 Phox2b paired like homeobox 2B gene DOID:9001305 Neuroblastoma 2 susceptibility ISO RGD:1347823 D RGD:7240710 20240320 OMIM 8774894 Phox2b paired like homeobox 2B gene DOID:9001466 Hirschsprung Disease Ganglioneuroblastoma ISO RGD:1347823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma PMID:11953745|PMID:12438263|PMID:15024693|PMID:15338462|PMID:17637745|PMID:20089899|PMID:23754957|PMID:23873030 8774894 Phox2b paired like homeobox 2B gene DOID:9003671 Hypoventilation ISO RGD:1347823 D RGD:9068941 20200609 RGD PMID:12640453|PMID:14566559|REF_RGD_ID:1599147|REF_RGD_ID:1599148 8774894 Phox2b paired like homeobox 2B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347823 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11953745|PMID:12438263|PMID:12631670|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16249188|PMID:16443855|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28433712|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:34298581|PMID:9536098 8774894 Phox2b paired like homeobox 2B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347823 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11953745|PMID:12438263|PMID:12631670|PMID:12640453|PMID:14566559|PMID:14608649|PMID:14709596|PMID:15024693|PMID:15121777|PMID:15334515|PMID:15338462|PMID:15657873|PMID:15949893|PMID:16199547|PMID:16249188|PMID:16443855|PMID:16691592|PMID:16763219|PMID:16830328|PMID:16888290|PMID:17576681|PMID:17637745|PMID:17765533|PMID:18079495|PMID:18157832|PMID:18292934|PMID:18407552|PMID:18798833|PMID:19011468|PMID:19058226|PMID:19422034|PMID:20089899|PMID:20208042|PMID:20301600|PMID:20456320|PMID:21373876|PMID:23460419|PMID:23622117|PMID:23754957|PMID:23873030|PMID:24033266|PMID:24169930|PMID:24728327|PMID:25156769|PMID:25319843|PMID:25741868|PMID:26063465|PMID:26375764|PMID:26580448|PMID:27013732|PMID:27153395|PMID:28371199|PMID:28422456|PMID:28433712|PMID:28492532|PMID:28873162|PMID:29531718|PMID:29543228|PMID:29641532|PMID:29704303|PMID:30518452|PMID:30672101|PMID:30850150|PMID:32573669|PMID:33958749|PMID:34012823|PMID:34298581|PMID:9536098 8774894 Phox2b paired like homeobox 2B gene DOID:9256 colorectal cancer ISO RGD:1347823 D RGD:9068941 20220505 RGD DNA:hypermethylation: : (human) PMID:22552777|REF_RGD_ID:152025258 8774905 Tapbp TAP binding protein gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:735382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8774905 Tapbp TAP binding protein gene DOID:0060009 MHC class I deficiency ISO RGD:735382 D RGD:7240710 20180130 OMIM 8774905 Tapbp TAP binding protein gene DOID:0060009 MHC class I deficiency ISO RGD:735382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:12149238|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 8774905 Tapbp TAP binding protein gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:735382 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8774905 Tapbp TAP binding protein gene DOID:627 severe combined immunodeficiency ISO RGD:735382 D RGD:9068941 20200609 RGD type I bare lymphocyte syndrome, OMIM:604571 PMID:12149238|REF_RGD_ID:1599296 8774905 Tapbp TAP binding protein gene DOID:630 genetic disease ISO RGD:735382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8775019 Lrrc8c leucine rich repeat containing 8 VRAC subunit C gene DOID:2377 multiple sclerosis ISO RGD:1604274 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8775019 Lrrc8c leucine rich repeat containing 8 VRAC subunit C gene DOID:630 genetic disease ISO RGD:1604274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775032 Rab3il1 RAB3A interacting protein like 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1354248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8775032 Rab3il1 RAB3A interacting protein like 1 gene DOID:1059 intellectual disability ISO RGD:1354248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8775032 Rab3il1 RAB3A interacting protein like 1 gene DOID:630 genetic disease ISO RGD:1354248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775056 Calb2 calbindin 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8775056 Calb2 calbindin 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:731363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8775056 Calb2 calbindin 2 gene DOID:13141 uveitis ISO RGD:731363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578012 8775056 Calb2 calbindin 2 gene DOID:1790 malignant mesothelioma ISO RGD:731363 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8775056 Calb2 calbindin 2 gene DOID:630 genetic disease ISO RGD:731363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775056 Calb2 calbindin 2 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:731363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8775056 Calb2 calbindin 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731363 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:18604736|REF_RGD_ID:2315881 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:0050742 nicotine dependence ISO RGD:733809 D RGD:7240710 20230505 OMIM 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:0050742 nicotine dependence ISO RGD:733809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tobacco addiction, susceptibility to PMID:25741868|PMID:28263315|PMID:28492532 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:733809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:733809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:10889530|PMID:16103889|PMID:16171832|PMID:16199547|PMID:16212992|PMID:17576681|PMID:18614672|PMID:19590515|PMID:20427663|PMID:21112253|PMID:22495311|PMID:22514303|PMID:23436987|PMID:23979605|PMID:24613933|PMID:25313507|PMID:25331903|PMID:25741436|PMID:25741868|PMID:25747272|PMID:25774383|PMID:26931468|PMID:28263315|PMID:28492532|PMID:29559554|PMID:9536098 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:0070489 classic dopamine transporter deficiency syndrome ISO RGD:733809 D RGD:7240710 20190424 OMIM 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:0070489 classic dopamine transporter deficiency syndrome ISO RGD:733809 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome PMID:10889530|PMID:16103889|PMID:16171832|PMID:16199547|PMID:16212992|PMID:18614672|PMID:19478460|PMID:19590515|PMID:20427663|PMID:21112253|PMID:22279524|PMID:22495311|PMID:23979605|PMID:24613933|PMID:25313507|PMID:25331903|PMID:25741436|PMID:25741868|PMID:26931468|PMID:28492532|PMID:29559554 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:0080832 mild cognitive impairment susceptibility ISO RGD:733809 D RGD:9068941 20240125 RGD associated with pathological gambling; DNA:repeats:: PMID:25237117|REF_RGD_ID:401959397 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:0080855 Parkinsonism ISO RGD:3715 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:15680936|REF_RGD_ID:1625663 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:10763 hypertension ISO RGD:3715 D RGD:9068941 20200609 RGD protein:increased expression:caudate-putamen PMID:9074541|REF_RGD_ID:1625656 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:11315 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12699766|PMID:15059031|PMID:19120712|PMID:22034972 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733809 D RGD:9068941 20200609 RGD with prenatal smoke exposure;DNA:repeat:3' utr: (human) PMID:12915833|REF_RGD_ID:1358582 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:11315 D RGD:9068941 20220825 MouseDO OMIM:137580 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:12700 hyperprolactinemia treatment ISO RGD:3715 D RGD:9068941 20200609 RGD PMID:26297122|REF_RGD_ID:13506955 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:1307 dementia ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18579413 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:14330 Parkinson's disease ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16112329|PMID:16963468|PMID:19590691|PMID:9763484 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:1574 alcohol use disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:2030 anxiety disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19120712 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:2769 tic disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19120712 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:3070 high grade glioma ISO RGD:3715 D RGD:9068941 20200609 RGD protein:decreased expression PMID:14698456|REF_RGD_ID:1625668 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:4428 dyslexia ISO RGD:733809 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:35940320 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:535 sleep disorder ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24403155 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:5419 schizophrenia ISO RGD:733809 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868|PMID:38054408 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:630 genetic disease ISO RGD:733809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10889530|PMID:16103889|PMID:16171832|PMID:16212992|PMID:18614672|PMID:19590515|PMID:20427663|PMID:25313507|PMID:25331903|PMID:25741868|PMID:26931468|PMID:28492532|PMID:29559554 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:670 amphetamine abuse ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12931138 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:863 nervous system disease ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12890883 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:8646 substance-induced psychosis ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12931138 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9000123 Deglutition Disorders ISO RGD:733809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysphagia 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9001310 Tobacco Use Disorder severity ISO RGD:733809 D RGD:9068941 20240113 RGD DNA:repeats: : PMID:25526961|REF_RGD_ID:401959206 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9002362 Hyperkinesis ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18347339|PMID:18588534 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9002955 Nerve Degeneration ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12871582|PMID:18206288 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9004120 Alcohol Withdrawal Seizures ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27219321 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9004890 Paranoid Disorders ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8825631 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11320258|PMID:11746736|PMID:16537431|PMID:19602552 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20875051 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9008023 Memory Disorders ISO RGD:733809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17992686 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9970 obesity no_association ISO RGD:733809 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16674552|REF_RGD_ID:1625653 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9970 obesity susceptibility ISO RGD:733809 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12490667|REF_RGD_ID:1625655 8775071 Slc6a3 solute carrier family 6 member 3 gene DOID:9976 heroin dependence ISO RGD:3715 D RGD:9068941 20200609 RGD PMID:28598964|REF_RGD_ID:13506959 8775089 Cbarp CACN subunit beta associated regulatory protein gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8775089 Cbarp CACN subunit beta associated regulatory protein gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1316225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome 8775089 Cbarp CACN subunit beta associated regulatory protein gene DOID:5339 cyclic hematopoiesis ISO RGD:1316225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8775089 Cbarp CACN subunit beta associated regulatory protein gene DOID:630 genetic disease ISO RGD:1316225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775110 Nhsl2 NHS like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8775110 Nhsl2 NHS like 2 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1603499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 8775110 Nhsl2 NHS like 2 gene DOID:12849 autistic disorder ISO RGD:1603499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8775110 Nhsl2 NHS like 2 gene DOID:630 genetic disease ISO RGD:1603499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1605247 D RGD:7240710 20180130 OMIM 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1605247 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: KANSL1-related condition | ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:16199547|PMID:17576681|PMID:18628315|PMID:20301783|PMID:21094706|PMID:22544363|PMID:22544367|PMID:24056718|PMID:24088041|PMID:25326635|PMID:2544363|PMID:25640679|PMID:25741868|PMID:25741877|PMID:26306646|PMID:26424144|PMID:26467025|PMID:26633545|PMID:28211987|PMID:28440867|PMID:28492532|PMID:29352316|PMID:29655203|PMID:29758562|PMID:30293248|PMID:31278258|PMID:31440721|PMID:31785789|PMID:33004838|PMID:33393407|PMID:33442022|PMID:36529818|PMID:9536098 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1605247 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysplastic corpus callosum PMID:25741868 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1605247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1605247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:25741868|PMID:26424144|PMID:26467025|PMID:28492532 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:1826 epilepsy ISO RGD:1605247 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:630 genetic disease ISO RGD:1605247 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20301783|PMID:22544363|PMID:24056718|PMID:25741868|PMID:26306646|PMID:26424144|PMID:26467025|PMID:28440867|PMID:28492532|PMID:29352316|PMID:29758562|PMID:30293248|PMID:31278258|PMID:31440721|PMID:31785789|PMID:33442022|PMID:36529818 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9001626 Chromosome 17 Deletion ISO RGD:1605247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1605247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20301783|PMID:22544363|PMID:22544367|PMID:25741868|PMID:25741877|PMID:28492532 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9008582 Developmental Disease ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1605247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544363|PMID:22544367 8775139 Kansl1 KAT8 regulatory NSL complex subunit 1 gene DOID:9255 frontotemporal dementia ISO RGD:1605247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:28492532 8775184 Ccnb2 cyclin B2 gene DOID:0080600 COVID-19 ISO RGD:1317801 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8775184 Ccnb2 cyclin B2 gene DOID:2717 Bloom syndrome ISO RGD:1317801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8775184 Ccnb2 cyclin B2 gene DOID:630 genetic disease ISO RGD:1317801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775184 Ccnb2 cyclin B2 gene DOID:684 hepatocellular carcinoma ISO RGD:1317801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8775184 Ccnb2 cyclin B2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8775184 Ccnb2 cyclin B2 gene DOID:9256 colorectal cancer ISO RGD:1317801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8775197 Ccdc158 coiled-coil domain containing 158 gene DOID:630 genetic disease ISO RGD:1602411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775197 Ccdc158 coiled-coil domain containing 158 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1602411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1315800 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1315800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:1059 intellectual disability ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:11054 urinary bladder cancer ISO RGD:1315800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:5812 MHC class II deficiency ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:630 genetic disease ISO RGD:1315800 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:26365382|PMID:28492532 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:1315800 D RGD:7240710 20200722 OMIM 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:1315800 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hao-Fountain syndrome | ClinVar Annotator: match by term: USP7-related neurodevelopmental disorder PMID:17576681|PMID:25741868|PMID:26365382|PMID:28492532|PMID:30679821|PMID:9536098 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:9003816 Macrocephaly ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8775227 Usp7 ubiquitin specific peptidase 7 gene DOID:9005603 Muscle Hypotonia ISO RGD:1315800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 8775268 Fgf9 fibroblast growth factor 9 gene DOID:0050794 multiple synostoses syndrome ISO RGD:10579 D RGD:9068941 20220825 MouseDO OMIM:186500 | OMIM:610017 | OMIM:612961 8775268 Fgf9 fibroblast growth factor 9 gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome 8775268 Fgf9 fibroblast growth factor 9 gene DOID:0081319 multiple synostoses syndrome 3 ISO RGD:735806 D RGD:7240710 20180130 OMIM 8775268 Fgf9 fibroblast growth factor 9 gene DOID:0081319 multiple synostoses syndrome 3 ISO RGD:735806 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 3 PMID:19589401|PMID:25741868|PMID:28492532|PMID:28730625|PMID:36980996 8775268 Fgf9 fibroblast growth factor 9 gene DOID:1790 malignant mesothelioma ISO RGD:735806 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8775268 Fgf9 fibroblast growth factor 9 gene DOID:263 kidney cancer ameliorates ISO RGD:735806 D RGD:9068941 20220526 RGD human gene in mouse model PMID:26183774|REF_RGD_ID:152600905 8775268 Fgf9 fibroblast growth factor 9 gene DOID:299 adenocarcinoma ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20464547 8775268 Fgf9 fibroblast growth factor 9 gene DOID:3907 lung squamous cell carcinoma ISO RGD:735806 D RGD:9068941 20220520 RGD mRNA:decreased expression:lung (human) PMID:28440022|REF_RGD_ID:152180844 8775268 Fgf9 fibroblast growth factor 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19358281 8775268 Fgf9 fibroblast growth factor 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735806 D RGD:9068941 20220520 RGD mRNA:increased expression:lung (human) PMID:31884893|REF_RGD_ID:152177912 8775268 Fgf9 fibroblast growth factor 9 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735806 D RGD:9068941 20220519 RGD mRNA:increased expression:lung (human) PMID:24239165|REF_RGD_ID:152177524 8775268 Fgf9 fibroblast growth factor 9 gene DOID:3910 lung adenocarcinoma ISO RGD:735806 D RGD:9068941 20220519 RGD protein:increased expression:lung (human) PMID:19358281|REF_RGD_ID:152177688 8775268 Fgf9 fibroblast growth factor 9 gene DOID:3910 lung adenocarcinoma ISO RGD:735806 D RGD:9068941 20220520 RGD mRNA:decreased expression:lung (human) PMID:19296538|REF_RGD_ID:150429981 8775268 Fgf9 fibroblast growth factor 9 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735806 D RGD:9068941 20220526 RGD protein:increased expression:lung (human) PMID:20464547|REF_RGD_ID:152975620 8775268 Fgf9 fibroblast growth factor 9 gene DOID:630 genetic disease ISO RGD:735806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775268 Fgf9 fibroblast growth factor 9 gene DOID:674 cleft palate ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8775268 Fgf9 fibroblast growth factor 9 gene DOID:9004207 Testicular Neoplasms ISO RGD:735806 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:33172093 8775268 Fgf9 fibroblast growth factor 9 gene DOID:9005172 Lung Neoplasms ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20464547 8775268 Fgf9 fibroblast growth factor 9 gene DOID:9296 cleft lip ISO RGD:735806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8775278 Med10 mediator complex subunit 10 gene DOID:630 genetic disease ISO RGD:1604270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775286 Ergic2 ERGIC and golgi 2 gene DOID:630 genetic disease ISO RGD:1605678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775309 Mylk3 myosin light chain kinase 3 gene DOID:0060897 Parkinson's disease 17 ISO RGD:1604762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 17 PMID:28492532 8775309 Mylk3 myosin light chain kinase 3 gene DOID:0111041 glycogen storage disease IXB ISO RGD:1604762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 8775309 Mylk3 myosin light chain kinase 3 gene DOID:630 genetic disease ISO RGD:1604762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8775330 St8sia2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1351358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 8775330 St8sia2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1351358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775340 CUNH9orf152 chromosome unknown C9orf152 homolog gene DOID:630 genetic disease ISO RGD:1342470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775355 Pcdh19 protocadherin 19 gene DOID:0060041 autism spectrum disorder ISO RGD:1354208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8775355 Pcdh19 protocadherin 19 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8775355 Pcdh19 protocadherin 19 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1354208 D RGD:7240710 20180130 OMIM 8775355 Pcdh19 protocadherin 19 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1354208 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 | ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME PMID:16199547|PMID:17576681|PMID:18234694|PMID:18414213|PMID:18469813|PMID:19214208|PMID:19377476|PMID:19752159|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:21777234|PMID:22050978|PMID:22267240|PMID:22504056|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23066759|PMID:23334464|PMID:23708187|PMID:23712037|PMID:23808377|PMID:25227595|PMID:25326635|PMID:25499160|PMID:25640679|PMID:25741868|PMID:25891919|PMID:26467025|PMID:26704558|PMID:26765483|PMID:26954813|PMID:26993267|PMID:27029629|PMID:27143072|PMID:27177984|PMID:27179713|PMID:27527380|PMID:27787195|PMID:27864847|PMID:27884173|PMID:28102150|PMID:28334947|PMID:28462982|PMID:28492532|PMID:28669061|PMID:28690234|PMID:28837158|PMID:29056246|PMID:29064093|PMID:29301106|PMID:29358611|PMID:29377098|PMID:29655203|PMID:29763708|PMID:29866057|PMID:29933145|PMID:29933521|PMID:30287595|PMID:30451291|PMID:30530412|PMID:30828795|PMID:30945278|PMID:31031587|PMID:31054490|PMID:31139143|PMID:31175295|PMID:31302675|PMID:31319225|PMID:31487502|PMID:31618753|PMID:31665840|PMID:31714027|PMID:31901402|PMID:32105270|PMID:32146541|PMID:32189863|PMID:32366910|PMID:32425876|PMID:32852734|PMID:33176815|PMID:33262389|PMID:34008892|PMID:34082468|PMID:34331950|PMID:35571021|PMID:36011376|PMID:36980870|PMID:5116697|PMID:9536098 8775355 Pcdh19 protocadherin 19 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1354208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8775355 Pcdh19 protocadherin 19 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1354208 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 8775355 Pcdh19 protocadherin 19 gene DOID:1059 intellectual disability ISO RGD:1354208 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8775355 Pcdh19 protocadherin 19 gene DOID:12849 autistic disorder ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8775355 Pcdh19 protocadherin 19 gene DOID:12859 choreatic disease ISO RGD:1354208 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Choreatic disease PMID:18414213|PMID:25741868|PMID:28492532 8775355 Pcdh19 protocadherin 19 gene DOID:1826 epilepsy ISO RGD:1354208 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8775355 Pcdh19 protocadherin 19 gene DOID:2234 focal epilepsy ISO RGD:1354208 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:29377098 8775355 Pcdh19 protocadherin 19 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1354208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:19214208|PMID:19752159|PMID:20713952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 8775355 Pcdh19 protocadherin 19 gene DOID:535 sleep disorder ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:18414213|PMID:25741868|PMID:28492532 8775355 Pcdh19 protocadherin 19 gene DOID:630 genetic disease ISO RGD:1354208 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11736639|PMID:18234694|PMID:18414213|PMID:18469813|PMID:19214208|PMID:19377476|PMID:19752159|PMID:20713952|PMID:21053371|PMID:21480887|PMID:21519002|PMID:22267240|PMID:2267240|PMID:22848613|PMID:22946748|PMID:22949144|PMID:23066759|PMID:23334464|PMID:23708187|PMID:23712037|PMID:23808377|PMID:25741868|PMID:25891919|PMID:26467025|PMID:26765483|PMID:27179713|PMID:27527380|PMID:27787195|PMID:27884173|PMID:28462982|PMID:28492532|PMID:28669061|PMID:29064093|PMID:29301106|PMID:29358611|PMID:29377098|PMID:29866057|PMID:29933145|PMID:30287595|PMID:30530412|PMID:31302675|PMID:32852734|PMID:34082468 8775355 Pcdh19 protocadherin 19 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 8775355 Pcdh19 protocadherin 19 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1354208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:26704558|PMID:28492532 8775355 Pcdh19 protocadherin 19 gene DOID:9001793 Generalized Epilepsy ISO RGD:1354208 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8775355 Pcdh19 protocadherin 19 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1354208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18469813 8775355 Pcdh19 protocadherin 19 gene DOID:9007956 Febrile Seizures ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex febrile seizure PMID:25741868 8775355 Pcdh19 protocadherin 19 gene DOID:9008086 Developmental Disabilities ISO RGD:1354208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18469813|PMID:21053371|PMID:22267240|PMID:22946748|PMID:23334464|PMID:25741868|PMID:27143072|PMID:27527380|PMID:28492532|PMID:5116697 8775355 Pcdh19 protocadherin 19 gene DOID:9268 glycine encephalopathy ISO RGD:1354208 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 8775375 Eral1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:0050857 Perrault syndrome ISO RGD:1312320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:28449065 8775375 Eral1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:0080256 Perrault syndrome 6 ISO RGD:1312320 D RGD:7240710 20190315 OMIM 8775375 Eral1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:0080256 Perrault syndrome 6 ISO RGD:1312320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perrault syndrome 6 PMID:25741868|PMID:28449065 8775375 Eral1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:0080600 COVID-19 ISO RGD:1312320 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8775375 Eral1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:630 genetic disease ISO RGD:1312320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775375 Eral1 Era like 12S mitochondrial rRNA chaperone 1 gene DOID:9004538 Hearing Loss ISO RGD:1312320 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment 8775389 Htr1e 5-hydroxytryptamine receptor 1E gene DOID:630 genetic disease ISO RGD:1350220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775394 Adamtsl1 ADAMTS like 1 gene DOID:0080395 orofacial cleft 1 ISO RGD:1315056 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Orofacial cleft 1 PMID:25741868 8775394 Adamtsl1 ADAMTS like 1 gene DOID:630 genetic disease ISO RGD:1315056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775434 Set SET nuclear proto-oncogene gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8775434 Set SET nuclear proto-oncogene gene DOID:1059 intellectual disability ISO RGD:1316679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 8775434 Set SET nuclear proto-oncogene gene DOID:4441 dysgerminoma ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysgerminoma PMID:26822237 8775434 Set SET nuclear proto-oncogene gene DOID:630 genetic disease ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 8775434 Set SET nuclear proto-oncogene gene DOID:684 hepatocellular carcinoma ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26822237 8775434 Set SET nuclear proto-oncogene gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1316679 D RGD:7240710 20190315 OMIM 8775434 Set SET nuclear proto-oncogene gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 58 PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 8775434 Set SET nuclear proto-oncogene gene DOID:9000141 Autosomal Dominant Intellectual Developmental Disorder 58 ISO RGD:1316679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 58 PMID:11231286|PMID:17576681|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:28492532|PMID:29688601|PMID:34008892|PMID:9536098 8775434 Set SET nuclear proto-oncogene gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24555657 8775434 Set SET nuclear proto-oncogene gene DOID:9005749 Necrosis ISO RGD:1316679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24555657 8775434 Set SET nuclear proto-oncogene gene DOID:9008086 Developmental Disabilities ISO RGD:1316679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11231286|PMID:25356899|PMID:25741868|PMID:27775603|PMID:28135719|PMID:29688601|PMID:34008892 8775465 Otc ornithine transcarbamylase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8775465 Otc ornithine transcarbamylase gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 8775465 Otc ornithine transcarbamylase gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 8775465 Otc ornithine transcarbamylase gene DOID:12849 autistic disorder ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8775465 Otc ornithine transcarbamylase gene DOID:13580 cholestasis ISO RGD:3236 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:15916970|REF_RGD_ID:4143230 8775465 Otc ornithine transcarbamylase gene DOID:1561 cognitive disorder ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8778603 8775465 Otc ornithine transcarbamylase gene DOID:630 genetic disease ISO RGD:732939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10946359|PMID:16786505|PMID:17041896|PMID:17334707|PMID:17565723|PMID:17576681|PMID:18440262|PMID:23769969|PMID:24010702|PMID:2474822|PMID:25433810|PMID:25741868|PMID:25994866|PMID:28266016|PMID:2836378|PMID:28492532|PMID:28887792|PMID:34014569|PMID:8260194|PMID:8829665|PMID:8830175|PMID:9286441|PMID:9536098|PMID:9610619 8775465 Otc ornithine transcarbamylase gene DOID:684 hepatocellular carcinoma severity ISO RGD:732939 D RGD:9068941 20220616 RGD mRNA:altered expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 8775465 Otc ornithine transcarbamylase gene DOID:9000722 Animal Hepatitis ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8821709|REF_RGD_ID:2303519 8775465 Otc ornithine transcarbamylase gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:19101528|REF_RGD_ID:4144059 8775465 Otc ornithine transcarbamylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3236 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:7865721|REF_RGD_ID:4144080 8775465 Otc ornithine transcarbamylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8775465 Otc ornithine transcarbamylase gene DOID:9001708 Hemorrhagic Shock ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased activity:serum (rat) PMID:17224795|REF_RGD_ID:1643525 8775465 Otc ornithine transcarbamylase gene DOID:9002231 Fetal Growth Retardation ISO RGD:3236 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:8929856|REF_RGD_ID:4144077 8775465 Otc ornithine transcarbamylase gene DOID:9002802 Acidoses ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:9472964|REF_RGD_ID:4144071 8775465 Otc ornithine transcarbamylase gene DOID:9002955 Nerve Degeneration ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24161480 8775465 Otc ornithine transcarbamylase gene DOID:9004009 Reperfusion Injury ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased activity:serum PMID:1499453|REF_RGD_ID:4144083 8775465 Otc ornithine transcarbamylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8775465 Otc ornithine transcarbamylase gene DOID:9004484 Sepsis ISO RGD:3236 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:10353541|REF_RGD_ID:4144069 8775465 Otc ornithine transcarbamylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3236 D RGD:9068941 20200609 RGD protein:decreased activity:small intestine (rat) PMID:9628242|REF_RGD_ID:4144123 8775465 Otc ornithine transcarbamylase gene DOID:9005930 Endotoxemia ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 8775465 Otc ornithine transcarbamylase gene DOID:9007820 Sudden Death ISO RGD:732939 D RGD:9068941 20200609 RGD death due to neonatal-onset hyperammonaemic encephalopathy PMID:17262046|REF_RGD_ID:1601074 8775465 Otc ornithine transcarbamylase gene DOID:9007874 Liver Failure ISO RGD:3236 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 8775465 Otc ornithine transcarbamylase gene DOID:9008086 Developmental Disabilities ISO RGD:732939 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8775465 Otc ornithine transcarbamylase gene DOID:9008972 Hyperammonemia ISO RGD:732939 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hyperammonaemia | ClinVar Annotator: match by term: Hyperammonemia PMID:17613537|PMID:18204299|PMID:18440262|PMID:25637381|PMID:25741868|PMID:28492532|PMID:33489762|PMID:34014569|PMID:8807340 8775465 Otc ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:732939 D RGD:7240710 20180130 OMIM 8775465 Otc ornithine transcarbamylase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:732939 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: OTC deficiency | ClinVar Annotator: match by term: OTC-related condition | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10070627|PMID:10405441|PMID:10502831|PMID:10737985|PMID:10799432|PMID:10869432|PMID:10946359|PMID:11102556|PMID:11117428|PMID:11260212|PMID:11388595|PMID:11745010|PMID:11768581|PMID:11793468|PMID:11793483|PMID:12083811|PMID:12402347|PMID:12536032|PMID:12579493|PMID:1353535|PMID:1480464|PMID:14976564|PMID:15060014|PMID:15174800|PMID:16055928|PMID:16199547|PMID:1627356|PMID:16635166|PMID:1671317|PMID:16786505|PMID:16969763|PMID:17041896|PMID:17044854|PMID:1721894|PMID:17334707|PMID:17565723|PMID:17576681|PMID:1757964|PMID:17613537|PMID:17922216|PMID:18030415|PMID:18204299|PMID:18440262|PMID:18487280|PMID:18604903|PMID:18662984|PMID:19138872|PMID:19475717|PMID:19669271|PMID:19783189|PMID:19893582|PMID:2035531|PMID:2037279|PMID:20406775|PMID:20458665|PMID:20817516|PMID:21070677|PMID:21488237|PMID:21956151|PMID:2208768|PMID:22099885|PMID:22340867|PMID:22382802|PMID:2246687|PMID:22494545|PMID:22727265|PMID:23209112|PMID:23278509|PMID:2347583|PMID:23551631|PMID:23568734|PMID:23769969|PMID:24006547|PMID:24010702|PMID:24033266|PMID:24055113|PMID:24199608|PMID:24449986|PMID:2474822|PMID:25011434|PMID:25026867|PMID:25297582|PMID:25425289|PMID:25433810|PMID:2556444|PMID:25637381|PMID:25741868|PMID:25741869|PMID:25853564|PMID:25854183|PMID:25949836|PMID:25958381|PMID:25994866|PMID:26059767|PMID:26467025|PMID:26574542|PMID:26753873|PMID:26819360|PMID:27070778|PMID:2741942|PMID:27489649|PMID:27738433|PMID:28107167|PMID:28261508|PMID:28266016|PMID:28324312|PMID:2836378|PMID:2843770|PMID:28492532|PMID:28815739|PMID:28887792|PMID:29123827|PMID:29282796|PMID:29581464|PMID:30175132|PMID:30285816|PMID:30626930|PMID:31130284|PMID:31426867|PMID:3170748|PMID:32272297|PMID:32410394|PMID:32793520|PMID:32853555|PMID:32934962|PMID:32995020|PMID:33272297|PMID:33309754|PMID:33369132|PMID:33489762|PMID:33551825|PMID:33851512|PMID:34014557|PMID:34014569|PMID:34015158|PMID:34440436|PMID:34906067|PMID:35605046|PMID:35949797|PMID:36303552|PMID:7474892|PMID:7474905|PMID:7627182|PMID:7860064|PMID:7860066|PMID:7951259|PMID:8019569|PMID:8081398|PMID:8099056|PMID:8112735|PMID:8260194|PMID:8295401|PMID:8364586|PMID:8365726|PMID:8530002|PMID:8566955|PMID:8786061|PMID:8807340|PMID:8829665|PMID:8830175|PMID:8857803|PMID:8863155|PMID:8956038|PMID:8985493|PMID:9007316|PMID:9028466|PMID:9048915|PMID:9056557|PMID:9143919|PMID:9175746|PMID:9266387|PMID:9266388|PMID:9286441|PMID:9427144|PMID:9452024|PMID:9452049|PMID:9501271|PMID:9536098|PMID:9609999|PMID:9610619|PMID:9686344|PMID:9852088 8775465 Otc ornithine transcarbamylase gene DOID:936 brain disease ISO RGD:732939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8778603 8775465 Otc ornithine transcarbamylase gene DOID:9452 steatotic liver disease ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:18823438|REF_RGD_ID:4144061 8775465 Otc ornithine transcarbamylase gene DOID:9562 primary ciliary dyskinesia ISO RGD:732939 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10946359|PMID:11793468|PMID:16055928|PMID:16786505|PMID:16969763|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8775465 Otc ornithine transcarbamylase gene DOID:9970 obesity ISO RGD:3236 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:1330956|REF_RGD_ID:4144087 8775480 Tgm5 transglutaminase 5 gene DOID:0070520 peeling skin syndrome 1 ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:22622422 8775480 Tgm5 transglutaminase 5 gene DOID:0070521 peeling skin syndrome 2 ISO RGD:1318367 D RGD:7240710 20180130 OMIM 8775480 Tgm5 transglutaminase 5 gene DOID:0070521 peeling skin syndrome 2 ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acral peeling skin syndrome | ClinVar Annotator: match by term: Peeling skin syndrome 2 PMID:16380904|PMID:19440220|PMID:20164844|PMID:21469335|PMID:22036214|PMID:22622422|PMID:24019772|PMID:24628291|PMID:25644735|PMID:25741868|PMID:26091878|PMID:26707537|PMID:26925801|PMID:28492532|PMID:29242947 8775480 Tgm5 transglutaminase 5 gene DOID:2717 Bloom syndrome ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8775480 Tgm5 transglutaminase 5 gene DOID:630 genetic disease ISO RGD:1318367 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16380904|PMID:19440220|PMID:20164844|PMID:22036214|PMID:22622422|PMID:24019772|PMID:24628291|PMID:25644735|PMID:25741868|PMID:26707537|PMID:29242947 8775480 Tgm5 transglutaminase 5 gene DOID:9256 colorectal cancer ISO RGD:1318367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:stomach (human) PMID:16849520|REF_RGD_ID:151347663 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:733273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:10534 stomach cancer ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:mucosa of stomach (human) PMID:17229543|REF_RGD_ID:151347657 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:1107 esophageal carcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:esophagus mucosa (human) PMID:8988034|REF_RGD_ID:151347660 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:299 adenocarcinoma ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:esophagus mucosa (human) PMID:26465158|REF_RGD_ID:151347661 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD protein:increased expression:esophagus (human) PMID:10797316|REF_RGD_ID:151347654 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:4450 renal cell carcinoma ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:4914 esophagus adenocarcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD human cells in a mouse model PMID:32737994|REF_RGD_ID:151347656 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:733273 D RGD:9068941 20220204 RGD PMID:31809243|REF_RGD_ID:151347659 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:5517 stomach carcinoma ISO RGD:733273 D RGD:9068941 20220204 RGD mRNA:increased expression:stomach (human) PMID:9125150|REF_RGD_ID:151347662 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:630 genetic disease ISO RGD:733273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733273 D RGD:9068941 20220204 RGD protein:increased expression:liver (human) PMID:17634422|REF_RGD_ID:151347655 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:9002189 High Myopia ISO RGD:733273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:9005172 Lung Neoplasms ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8775499 Grb7 growth factor receptor bound protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:733273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17426702|PMID:19075277 8775535 CUNHXorf38 chromosome unknown CXorf38 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8775535 CUNHXorf38 chromosome unknown CXorf38 homolog gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1352581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 8775535 CUNHXorf38 chromosome unknown CXorf38 homolog gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1352581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 8775535 CUNHXorf38 chromosome unknown CXorf38 homolog gene DOID:12849 autistic disorder ISO RGD:1352581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8775535 CUNHXorf38 chromosome unknown CXorf38 homolog gene DOID:630 genetic disease ISO RGD:1352581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775535 CUNHXorf38 chromosome unknown CXorf38 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8775535 CUNHXorf38 chromosome unknown CXorf38 homolog gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1352581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8775547 Rasl10a RAS like family 10 member A gene DOID:0111252 vestibular schwannomatosis ISO RGD:1606572 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8775547 Rasl10a RAS like family 10 member A gene DOID:630 genetic disease ISO RGD:1606572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775547 Rasl10a RAS like family 10 member A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1606572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8775555 Arhgap42 Rho GTPase activating protein 42 gene DOID:1059 intellectual disability ISO RGD:3500508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8775555 Arhgap42 Rho GTPase activating protein 42 gene DOID:12704 ataxia telangiectasia ISO RGD:3500508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8775555 Arhgap42 Rho GTPase activating protein 42 gene DOID:630 genetic disease ISO RGD:3500508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775596 Slc2a12 solute carrier family 2 member 12 gene DOID:630 genetic disease ISO RGD:1320922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775609 Tanc1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:1059 intellectual disability ISO RGD:1604561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8775609 Tanc1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:12849 autistic disorder ISO RGD:1604561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 8775609 Tanc1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 gene DOID:630 genetic disease ISO RGD:1604561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775645 Tmem161a transmembrane protein 161A gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1603037 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 8775645 Tmem161a transmembrane protein 161A gene DOID:630 genetic disease ISO RGD:1603037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775645 Tmem161a transmembrane protein 161A gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1603037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8775663 Six2 SIX homeobox 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1321897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8775663 Six2 SIX homeobox 2 gene DOID:0080205 CAKUT ISO RGD:1321897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687|PMID:28492532|PMID:32164334 8775663 Six2 SIX homeobox 2 gene DOID:0081044 frontonasal dysplasia ISO RGD:1321897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18570229 8775663 Six2 SIX homeobox 2 gene DOID:0110872 holoprosencephaly 2 ISO RGD:1321897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:28492532|PMID:32796691 8775663 Six2 SIX homeobox 2 gene DOID:2154 nephroblastoma ISO RGD:1321897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8775663 Six2 SIX homeobox 2 gene DOID:3883 Lynch syndrome ISO RGD:1321897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8775663 Six2 SIX homeobox 2 gene DOID:5176 renal Wilms' tumor ISO RGD:1321897 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 8775663 Six2 SIX homeobox 2 gene DOID:557 kidney disease ISO RGD:1321897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18570229 8775663 Six2 SIX homeobox 2 gene DOID:630 genetic disease ISO RGD:1321897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8775663 Six2 SIX homeobox 2 gene DOID:674 cleft palate ISO RGD:1321898 D RGD:9068941 20221124 MouseDO 8775663 Six2 SIX homeobox 2 gene DOID:784 chronic kidney disease treatment ISO RGD:1321897 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 8775663 Six2 SIX homeobox 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1321898 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 8775681 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:0090006 renal coloboma syndrome ISO RGD:1319298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal coloboma syndrome PMID:11461952|PMID:24676634|PMID:28492532 8775681 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:0112080 nuclear type mitochondrial complex I deficiency 32 ISO RGD:1319298 D RGD:7240710 20190315 OMIM 8775681 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:0112080 nuclear type mitochondrial complex I deficiency 32 ISO RGD:1319298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 PMID:25741868|PMID:28492532|PMID:29429571 8775681 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:10652 Alzheimer's disease ISO RGD:1319298 D RGD:9068941 20200609 RGD PMID:14570706|REF_RGD_ID:1358651 8775681 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:14330 Parkinson's disease ISO RGD:1319298 D RGD:9068941 20200609 RGD PMID:26605748|REF_RGD_ID:13504667 8775681 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:3021 acute kidney failure ISO RGD:1309129 D RGD:9068941 20200609 RGD PMID:22160772|REF_RGD_ID:13801199 8775681 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:37 skin disease ISO RGD:1319298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8775681 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:630 genetic disease ISO RGD:1319298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8775681 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9004484 Sepsis ISO RGD:1309129 D RGD:9068941 20200609 RGD PMID:22952679|REF_RGD_ID:13801198 8775681 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1309129 D RGD:9068941 20200609 RGD PMID:24096033|REF_RGD_ID:13801197 8775681 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1319299 D RGD:9068941 20200609 RGD PMID:22160772|REF_RGD_ID:13801199 8775681 Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 gene DOID:9007964 Arsenic Poisoning ISO RGD:1319298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8775690 Fsd1 fibronectin type III and SPRY domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1345798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8775690 Fsd1 fibronectin type III and SPRY domain containing 1 gene DOID:630 genetic disease ISO RGD:1345798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775690 Fsd1 fibronectin type III and SPRY domain containing 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1345798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8775711 Rpl14 ribosomal protein L14 gene DOID:14330 Parkinson's disease ISO RGD:733020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 8775711 Rpl14 ribosomal protein L14 gene DOID:4450 renal cell carcinoma ISO RGD:733020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8775711 Rpl14 ribosomal protein L14 gene DOID:630 genetic disease ISO RGD:733020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775711 Rpl14 ribosomal protein L14 gene DOID:9074 systemic lupus erythematosus ISO RGD:733020 D RGD:9068941 20200609 RGD PMID:12051391|REF_RGD_ID:11036103 8775721 Rpp30 ribonuclease P/MRP subunit p30 gene DOID:630 genetic disease ISO RGD:1321878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775748 Poglut3 protein O-glucosyltransferase 3 gene DOID:1059 intellectual disability ISO RGD:1347684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8775748 Poglut3 protein O-glucosyltransferase 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1347684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8775748 Poglut3 protein O-glucosyltransferase 3 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1347684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 8775748 Poglut3 protein O-glucosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1347684 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775748 Poglut3 protein O-glucosyltransferase 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8775760 Ctbp1 C-terminal binding protein 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:732729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:25741868|PMID:28492532 8775760 Ctbp1 C-terminal binding protein 1 gene DOID:1059 intellectual disability ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8775760 Ctbp1 C-terminal binding protein 1 gene DOID:10907 microcephaly ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8775760 Ctbp1 C-terminal binding protein 1 gene DOID:1856 cherubism ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8775760 Ctbp1 C-terminal binding protein 1 gene DOID:630 genetic disease ISO RGD:732729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27094857|PMID:28492532|PMID:28955726|PMID:29878067|PMID:31041561|PMID:9536098 8775760 Ctbp1 C-terminal binding protein 1 gene DOID:9001308 Wittwer Syndrome ISO RGD:732729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:25741868|PMID:28492532 8775760 Ctbp1 C-terminal binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17028196 8775760 Ctbp1 C-terminal binding protein 1 gene DOID:9009147 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME ISO RGD:732729 D RGD:7240710 20190315 OMIM 8775760 Ctbp1 C-terminal binding protein 1 gene DOID:9009147 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME ISO RGD:732729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome PMID:25741868|PMID:27094857|PMID:28492532|PMID:28955726|PMID:29878067|PMID:31041561 8775840 Il4 interleukin 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 8775840 Il4 interleukin 4 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:18798553|REF_RGD_ID:2317263 8775840 Il4 interleukin 4 gene DOID:0050634 alopecia universalis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20671941|REF_RGD_ID:7829773 8775840 Il4 interleukin 4 gene DOID:0050700 cardiomyopathy ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7578376 8775840 Il4 interleukin 4 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:7963654|REF_RGD_ID:7829823 8775840 Il4 interleukin 4 gene DOID:0060180 colitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24314293 8775840 Il4 interleukin 4 gene DOID:0060180 colitis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:9389741|REF_RGD_ID:8142400 8775840 Il4 interleukin 4 gene DOID:0060496 respiratory allergy ISO RGD:10796 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumocystis carinii PMID:21343358|REF_RGD_ID:5128506 8775840 Il4 interleukin 4 gene DOID:0060496 respiratory allergy ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 8775840 Il4 interleukin 4 gene DOID:0060500 drug allergy ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15867870|PMID:20485159 8775840 Il4 interleukin 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 8775840 Il4 interleukin 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8775840 Il4 interleukin 4 gene DOID:0080600 COVID-19 severity ISO RGD:736306 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8775840 Il4 interleukin 4 gene DOID:0080745 polymyositis ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19953283|REF_RGD_ID:7794747 8775840 Il4 interleukin 4 gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,5'UTR,intron:multiple PMID:20921925|REF_RGD_ID:11528633 8775840 Il4 interleukin 4 gene DOID:1003 pelvic inflammatory disease treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24589604|REF_RGD_ID:10402794 8775840 Il4 interleukin 4 gene DOID:10113 trypanosomiasis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24731531|REF_RGD_ID:10402804 8775840 Il4 interleukin 4 gene DOID:10223 dermatomyositis ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19953283|REF_RGD_ID:7794747 8775840 Il4 interleukin 4 gene DOID:10316 pneumoconiosis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21857939 8775840 Il4 interleukin 4 gene DOID:10459 common cold ISO RGD:10796 D RGD:9068941 20200609 RGD associated with Asthma;mRNA, protein:increased expression:alveolar macrophage, respiratory system fluid/secretion PMID:20644177|REF_RGD_ID:4140459 8775840 Il4 interleukin 4 gene DOID:10652 Alzheimer's disease ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter PMID:20213229|REF_RGD_ID:10402788 8775840 Il4 interleukin 4 gene DOID:10952 nephritis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:7967345|REF_RGD_ID:5128564 8775840 Il4 interleukin 4 gene DOID:11168 anogenital venereal wart ISO RGD:736306 D RGD:9068941 20201105 RGD protein:increased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 8775840 Il4 interleukin 4 gene DOID:11168 anogenital venereal wart treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:16114559|REF_RGD_ID:7829774 8775840 Il4 interleukin 4 gene DOID:1184 nephrotic syndrome treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24812565|REF_RGD_ID:10402803 8775840 Il4 interleukin 4 gene DOID:1205 allergic disease ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16095146|PMID:21625544 8775840 Il4 interleukin 4 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:20442198|REF_RGD_ID:7829828 8775840 Il4 interleukin 4 gene DOID:12306 vitiligo ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22342018|REF_RGD_ID:8663475 8775840 Il4 interleukin 4 gene DOID:12361 Graves' disease ISO RGD:736306 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 8775840 Il4 interleukin 4 gene DOID:12849 autistic disorder ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 8775840 Il4 interleukin 4 gene DOID:12894 Sjogren's syndrome ISO RGD:10796 D RGD:9068941 20220825 MouseDO OMIM:270150 8775840 Il4 interleukin 4 gene DOID:13001 carotid stenosis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:20498142|REF_RGD_ID:7829829 8775840 Il4 interleukin 4 gene DOID:13241 Behcet's disease ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-33T>C (human) PMID:21640045|REF_RGD_ID:5147902 8775840 Il4 interleukin 4 gene DOID:13375 temporal arteritis ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs2227284 (human) PMID:15570643|REF_RGD_ID:7829811 8775840 Il4 interleukin 4 gene DOID:13378 Kawasaki disease treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:22367425|REF_RGD_ID:7829825 8775840 Il4 interleukin 4 gene DOID:13580 cholestasis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:20031157|REF_RGD_ID:2317270 8775840 Il4 interleukin 4 gene DOID:1459 hypothyroidism treatment ISO RGD:2898 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 8775840 Il4 interleukin 4 gene DOID:1495 cystic echinococcosis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:25726962|REF_RGD_ID:14696685 8775840 Il4 interleukin 4 gene DOID:1532 pleural disease ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 8775840 Il4 interleukin 4 gene DOID:1561 cognitive disorder treatment ISO RGD:2898 D RGD:9068941 20200609 RGD associated with Radiation Injuries, Experimental PMID:24713401|REF_RGD_ID:10402800 8775840 Il4 interleukin 4 gene DOID:1679 cystitis ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18848347|REF_RGD_ID:2317284 8775840 Il4 interleukin 4 gene DOID:1790 malignant mesothelioma ISO RGD:736306 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8775840 Il4 interleukin 4 gene DOID:1793 pancreatic cancer ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:10404069|REF_RGD_ID:2317267 8775840 Il4 interleukin 4 gene DOID:1793 pancreatic cancer ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:12097255|REF_RGD_ID:2317265 8775840 Il4 interleukin 4 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19957810|REF_RGD_ID:2317261 8775840 Il4 interleukin 4 gene DOID:1883 hepatitis C ISO RGD:736306 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:28368861|REF_RGD_ID:14696680 8775840 Il4 interleukin 4 gene DOID:1883 hepatitis C susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-589C>T (human) PMID:28368861|REF_RGD_ID:14696680 8775840 Il4 interleukin 4 gene DOID:1926 Gaucher's disease ISO RGD:10796 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21223590|REF_RGD_ID:5128511 8775840 Il4 interleukin 4 gene DOID:2043 hepatitis B treatment ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2243250,rs2227284(human) PMID:28051794|REF_RGD_ID:14696676 8775840 Il4 interleukin 4 gene DOID:2048 autoimmune hepatitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 8775840 Il4 interleukin 4 gene DOID:2048 autoimmune hepatitis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:30034292|REF_RGD_ID:14696683 8775840 Il4 interleukin 4 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-590C>T,-33T>C (human) PMID:26735262|REF_RGD_ID:14696677 8775840 Il4 interleukin 4 gene DOID:2048 autoimmune hepatitis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:30034292|REF_RGD_ID:14696683 8775840 Il4 interleukin 4 gene DOID:2377 multiple sclerosis onset ISO RGD:736306 D RGD:9068941 20200806 RGD DNA:repeat:intron 3:allele B1 (human) PMID:9184650|REF_RGD_ID:1358745 8775840 Il4 interleukin 4 gene DOID:2723 dermatitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31330126 8775840 Il4 interleukin 4 gene DOID:2772 irritant dermatitis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:19690449|REF_RGD_ID:2317271 8775840 Il4 interleukin 4 gene DOID:2773 contact dermatitis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:12188032|REF_RGD_ID:7829776 8775840 Il4 interleukin 4 gene DOID:2799 bronchiolitis obliterans ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18557728|REF_RGD_ID:2317286 8775840 Il4 interleukin 4 gene DOID:2841 asthma ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:21375458|REF_RGD_ID:5128557 8775840 Il4 interleukin 4 gene DOID:2841 asthma ISO RGD:10796 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21354484|REF_RGD_ID:5128502 8775840 Il4 interleukin 4 gene DOID:2841 asthma ISO RGD:2898 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, spleen PMID:21364926|REF_RGD_ID:5128500 8775840 Il4 interleukin 4 gene DOID:2841 asthma ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18211752|REF_RGD_ID:2317290 8775840 Il4 interleukin 4 gene DOID:2841 asthma ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18357729 8775840 Il4 interleukin 4 gene DOID:2841 asthma ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:21103062|REF_RGD_ID:4889866 8775840 Il4 interleukin 4 gene DOID:2841 asthma ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA, protein:increase expression:leukocyte, serum PMID:24450480|REF_RGD_ID:10402791 8775840 Il4 interleukin 4 gene DOID:2841 asthma no_association ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP: :589C>T (human) PMID:20524005|REF_RGD_ID:5128560 8775840 Il4 interleukin 4 gene DOID:2841 asthma treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24946644|REF_RGD_ID:10402799 8775840 Il4 interleukin 4 gene DOID:2957 pulmonary tuberculosis severity ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:20832364|REF_RGD_ID:5128550 8775840 Il4 interleukin 4 gene DOID:3042 allergic contact dermatitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12484431|PMID:21804303 8775840 Il4 interleukin 4 gene DOID:3070 high grade glioma treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:9973213|REF_RGD_ID:8142389 8775840 Il4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11886533|PMID:12230500|PMID:18249437 8775840 Il4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-590C>T (human) PMID:9643293|REF_RGD_ID:7829786 8775840 Il4 interleukin 4 gene DOID:3310 atopic dermatitis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8363440|REF_RGD_ID:7829795 8775840 Il4 interleukin 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:23028794|REF_RGD_ID:7204480 8775840 Il4 interleukin 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:17942922|REF_RGD_ID:2317264 8775840 Il4 interleukin 4 gene DOID:3770 pulmonary fibrosis ISO RGD:10796 D RGD:9068941 20200609 RGD associated with Alveolitis, Extrinsic Allergic;mRNA:increased expression:lung PMID:20861649|REF_RGD_ID:5128548 8775840 Il4 interleukin 4 gene DOID:3770 pulmonary fibrosis ISO RGD:10796 D RGD:9068941 20200609 RGD associated with Silicosis;protein:increased expression:respiratory system fluid/secretion PMID:20490462|REF_RGD_ID:5128555 8775840 Il4 interleukin 4 gene DOID:3770 pulmonary fibrosis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12574379|PMID:15322207 8775840 Il4 interleukin 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24269241|REF_RGD_ID:10402793 8775840 Il4 interleukin 4 gene DOID:417 autoimmune disease ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077085|PMID:7871386|PMID:8898950 8775840 Il4 interleukin 4 gene DOID:418 systemic scleroderma ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, splice variant:blood, mononuclear cell, plasma PMID:10473513|REF_RGD_ID:7829819 8775840 Il4 interleukin 4 gene DOID:418 systemic scleroderma ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9034992|REF_RGD_ID:5684371 8775840 Il4 interleukin 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24620662|REF_RGD_ID:11522769 8775840 Il4 interleukin 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:14653048|PMID:8908280|PMID:9893928|REF_RGD_ID:7829796|REF_RGD_ID:7829802|REF_RGD_ID:7829827 8775840 Il4 interleukin 4 gene DOID:4483 rhinitis ISO RGD:10796 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:21208219|REF_RGD_ID:5128558 8775840 Il4 interleukin 4 gene DOID:4483 rhinitis ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18826099|REF_RGD_ID:2317285 8775840 Il4 interleukin 4 gene DOID:4483 rhinitis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19672097 8775840 Il4 interleukin 4 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:17898087|PMID:9350645|REF_RGD_ID:2307059|REF_RGD_ID:2317673 8775840 Il4 interleukin 4 gene DOID:552 pneumonia ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8775840 Il4 interleukin 4 gene DOID:552 pneumonia ISO RGD:736306 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8775840 Il4 interleukin 4 gene DOID:630 genetic disease ISO RGD:736306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775840 Il4 interleukin 4 gene DOID:6432 pulmonary hypertension ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:20889544|REF_RGD_ID:5128515 8775840 Il4 interleukin 4 gene DOID:7188 autoimmune thyroiditis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:9892610|REF_RGD_ID:8142396 8775840 Il4 interleukin 4 gene DOID:8536 herpes zoster ISO RGD:736306 D RGD:9068941 20200609 RGD protein:decreased expression:: PMID:21954956|REF_RGD_ID:8663478 8775840 Il4 interleukin 4 gene DOID:8893 psoriasis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254 8775840 Il4 interleukin 4 gene DOID:8893 psoriasis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15039646|REF_RGD_ID:7829812 8775840 Il4 interleukin 4 gene DOID:8893 psoriasis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:19729876|REF_RGD_ID:7829826 8775840 Il4 interleukin 4 gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:repeat:intron PMID:25051072|REF_RGD_ID:11041894 8775840 Il4 interleukin 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:20623539|REF_RGD_ID:5128562 8775840 Il4 interleukin 4 gene DOID:9000197 Edema treatment ISO RGD:736306 D RGD:9068941 20200609 RGD associated with Inflammation PMID:23972727|REF_RGD_ID:10402790 8775840 Il4 interleukin 4 gene DOID:9000784 Fibrosis ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:10486156|REF_RGD_ID:7829775 8775840 Il4 interleukin 4 gene DOID:9000784 Fibrosis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24286936 8775840 Il4 interleukin 4 gene DOID:9000998 Brain Injuries ISO RGD:2898 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:24519543|REF_RGD_ID:10402802 8775840 Il4 interleukin 4 gene DOID:9001011 Bovine Tuberculosis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17387165 8775840 Il4 interleukin 4 gene DOID:9001488 Human Influenza ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:21092162|REF_RGD_ID:5128546 8775840 Il4 interleukin 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10796 D RGD:9068941 20201023 RGD protein:decreased expression:serum (mouse) PMID:28465467|REF_RGD_ID:39939037 8775840 Il4 interleukin 4 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24986445|REF_RGD_ID:10402801 8775840 Il4 interleukin 4 gene DOID:9001981 Weight Loss ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24314293 8775840 Il4 interleukin 4 gene DOID:9002019 Granuloma treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24372369|REF_RGD_ID:10402806 8775840 Il4 interleukin 4 gene DOID:9002331 Knee Osteoarthritis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:18182309|REF_RGD_ID:2317291 8775840 Il4 interleukin 4 gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:repeat:intron: (rs8179190) (human) PMID:24406619|REF_RGD_ID:10402787 8775840 Il4 interleukin 4 gene DOID:9002457 Experimental Arthritis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:16869003|REF_RGD_ID:2317300 8775840 Il4 interleukin 4 gene DOID:9002457 Experimental Arthritis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10444273 8775840 Il4 interleukin 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:23140046|REF_RGD_ID:7193038 8775840 Il4 interleukin 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:23972727|REF_RGD_ID:10402790 8775840 Il4 interleukin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:1383385|REF_RGD_ID:8142395 8775840 Il4 interleukin 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:18239607|REF_RGD_ID:7829778 8775840 Il4 interleukin 4 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12755381|PMID:20485159|PMID:22967010 8775840 Il4 interleukin 4 gene DOID:9002992 Nematode Infections ISO RGD:2898 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen PMID:17570971|REF_RGD_ID:2317296 8775840 Il4 interleukin 4 gene DOID:9003157 Respiratory Sounds ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18410779 8775840 Il4 interleukin 4 gene DOID:9003507 Premature Birth ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 8775840 Il4 interleukin 4 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:21171297|REF_RGD_ID:5128559 8775840 Il4 interleukin 4 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9237816|REF_RGD_ID:7829817 8775840 Il4 interleukin 4 gene DOID:9003657 Perennial Allergic Rhinitis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:15329007|REF_RGD_ID:7829804 8775840 Il4 interleukin 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736306 D RGD:9068941 20200609 RGD associated with factor VIII deficiency;protein:increased expression:serum: PMID:23591975|REF_RGD_ID:14696686 8775840 Il4 interleukin 4 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-590C>T,-33T>C (human) PMID:22594992|REF_RGD_ID:14696678 8775840 Il4 interleukin 4 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736306 D RGD:9068941 20200813 RGD PMID:25708446|REF_RGD_ID:38456002 8775840 Il4 interleukin 4 gene DOID:9004203 Chromosome Breakage ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27634759 8775840 Il4 interleukin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8775840 Il4 interleukin 4 gene DOID:9004484 Sepsis ISO RGD:736306 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:25403265|REF_RGD_ID:38455982 8775840 Il4 interleukin 4 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24681349|REF_RGD_ID:10402798 8775840 Il4 interleukin 4 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, 5' utr, intron:multiple PMID:20219689|REF_RGD_ID:10402786 8775840 Il4 interleukin 4 gene DOID:9005236 Drug Eruptions ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19351467 8775840 Il4 interleukin 4 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:25191525|REF_RGD_ID:10402795 8775840 Il4 interleukin 4 gene DOID:9005941 Rhinosinusitis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD associated with Asthma PMID:12787306|REF_RGD_ID:7829803 8775840 Il4 interleukin 4 gene DOID:9006511 Xerostomia ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:16413168|REF_RGD_ID:7829771 8775840 Il4 interleukin 4 gene DOID:9006642 Experimental Autoimmune Uveoretinitis disease_progression ISO RGD:2898 D RGD:9068941 20200609 RGD mRNA:increased expression:uvea: PMID:7803357|REF_RGD_ID:8662946 8775840 Il4 interleukin 4 gene DOID:9006741 Acute Hepatitis ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:9367542|REF_RGD_ID:8142397 8775840 Il4 interleukin 4 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24365768|REF_RGD_ID:10402797 8775840 Il4 interleukin 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8775840 Il4 interleukin 4 gene DOID:9007096 Stroke ISO RGD:736306 D RGD:9068941 20230225 RGD mRNA:increased expression:lymphocyte PMID:31465536|REF_RGD_ID:156430320 8775840 Il4 interleukin 4 gene DOID:9007278 Anaphylaxis ISO RGD:10796 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, intestine, spleen PMID:24468678|REF_RGD_ID:10402796 8775840 Il4 interleukin 4 gene DOID:9007278 Anaphylaxis ISO RGD:736306 D RGD:9068941 20200609 RGD associated with cystic echinococcosis; protein:increased expression:blood PMID:28095662|REF_RGD_ID:14696684 8775840 Il4 interleukin 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21094227|PMID:21735453|PMID:22107450 8775840 Il4 interleukin 4 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2898 D RGD:9068941 20200609 RGD PMID:24876883|REF_RGD_ID:10402805 8775840 Il4 interleukin 4 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:736306 D RGD:9068941 20200609 RGD mRNA:increased expression:nose: PMID:7551298|REF_RGD_ID:8662960 8775840 Il4 interleukin 4 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9237816|REF_RGD_ID:7829817 8775840 Il4 interleukin 4 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-590C>T (human) PMID:26281177|REF_RGD_ID:14696675 8775840 Il4 interleukin 4 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:21331994|REF_RGD_ID:14696697 8775840 Il4 interleukin 4 gene DOID:9008366 Meningococcal Infections susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-524C>T(human) PMID:20016407|REF_RGD_ID:14696700 8775840 Il4 interleukin 4 gene DOID:9008680 Respiratory Tract Infections ISO RGD:736306 D RGD:9068941 20200609 RGD associated with Asthma PMID:20573437|REF_RGD_ID:5128554 8775840 Il4 interleukin 4 gene DOID:9008821 Otitis Media with Effusion ISO RGD:2898 D RGD:9068941 20200609 RGD protein:increased expression:middle ear PMID:18975780|REF_RGD_ID:2317282 8775840 Il4 interleukin 4 gene DOID:9008885 Staphylococcal Infections susceptibility ISO RGD:736306 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-542C>T (human) PMID:18422436|REF_RGD_ID:7829791 8775840 Il4 interleukin 4 gene DOID:9065 leishmaniasis ISO RGD:736306 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2145107|REF_RGD_ID:7829781 8775840 Il4 interleukin 4 gene DOID:9065 leishmaniasis treatment ISO RGD:10796 D RGD:9068941 20200609 RGD PMID:2521244|REF_RGD_ID:7829820 8775840 Il4 interleukin 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18158872 8775840 Il4 interleukin 4 gene DOID:9111 cutaneous leishmaniasis ISO RGD:736306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 8775840 Il4 interleukin 4 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2898 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8775840 Il4 interleukin 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10796 D RGD:9068941 20220825 MouseDO OMIM:222100 8775840 Il4 interleukin 4 gene DOID:9790 toxocariasis treatment ISO RGD:736306 D RGD:9068941 20200609 RGD PMID:26732352|REF_RGD_ID:11534298 8775847 Lsmem1 leucine rich single-pass membrane protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8775847 Lsmem1 leucine rich single-pass membrane protein 1 gene DOID:5419 schizophrenia ISO RGD:1606916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8775847 Lsmem1 leucine rich single-pass membrane protein 1 gene DOID:630 genetic disease ISO RGD:1606916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775847 Lsmem1 leucine rich single-pass membrane protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8775855 Anxa11 annexin A11 gene DOID:0080225 amyotrophic lateral sclerosis type 23 ISO RGD:1320510 D RGD:7240710 20190315 OMIM 8775855 Anxa11 annexin A11 gene DOID:0080225 amyotrophic lateral sclerosis type 23 ISO RGD:1320510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ANXA11-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23 PMID:25741868|PMID:28469040|PMID:28492532|PMID:29650794|PMID:29845112|PMID:30109997|PMID:33087501|PMID:33218681|PMID:34048612|PMID:35047667|PMID:35260199 8775855 Anxa11 annexin A11 gene DOID:0081121 inclusion body myopathy and brain white matter abnormalities ISO RGD:1320510 D RGD:7240710 20220323 OMIM 8775855 Anxa11 annexin A11 gene DOID:0081121 inclusion body myopathy and brain white matter abnormalities ISO RGD:1320510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities PMID:25741868|PMID:28469040|PMID:28492532|PMID:29845112|PMID:33087501|PMID:34048612 8775855 Anxa11 annexin A11 gene DOID:11335 sarcoidosis ISO RGD:1320510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165924 8775855 Anxa11 annexin A11 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28469040|PMID:28492532|PMID:29650794|PMID:30109997|PMID:33087501|PMID:33218681|PMID:35047667|PMID:9536098 8775855 Anxa11 annexin A11 gene DOID:630 genetic disease ISO RGD:1320510 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28469040|PMID:28492532|PMID:29650794|PMID:33087501 8775855 Anxa11 annexin A11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8775881 Cnga4 cyclic nucleotide gated channel subunit alpha 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8775881 Cnga4 cyclic nucleotide gated channel subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1603715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775914 Dach2 dachshund family transcription factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8775914 Dach2 dachshund family transcription factor 2 gene DOID:12849 autistic disorder ISO RGD:1354112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8775914 Dach2 dachshund family transcription factor 2 gene DOID:630 genetic disease ISO RGD:1354112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775930 Cd80 CD80 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:10590132|REF_RGD_ID:6902938 8775930 Cd80 CD80 molecule gene DOID:0060189 ileitis ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:22068168|REF_RGD_ID:6902902 8775930 Cd80 CD80 molecule gene DOID:10608 celiac disease ISO RGD:737082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 8775930 Cd80 CD80 molecule gene DOID:1074 kidney failure ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:16893502|REF_RGD_ID:6902939 8775930 Cd80 CD80 molecule gene DOID:12236 primary biliary cholangitis ISO RGD:737082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 8775930 Cd80 CD80 molecule gene DOID:12306 vitiligo ISO RGD:737082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 8775930 Cd80 CD80 molecule gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:737082 D RGD:9068941 20200609 RGD protein:increased expression:blood, B cell PMID:21310664|REF_RGD_ID:6893670 8775930 Cd80 CD80 molecule gene DOID:2841 asthma ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:21051864|PMID:21352203|PMID:21440530|REF_RGD_ID:5132619|REF_RGD_ID:5132620|REF_RGD_ID:5132621 8775930 Cd80 CD80 molecule gene DOID:3070 high grade glioma ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:10078962|REF_RGD_ID:727266 8775930 Cd80 CD80 molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737082 D RGD:9068941 20200609 RGD PMID:19729666|REF_RGD_ID:4892292 8775930 Cd80 CD80 molecule gene DOID:3213 demyelinating disease ISO RGD:737082 D RGD:9068941 20200609 RGD protein:increased expression:blood, B cell PMID:21310664|REF_RGD_ID:6893670 8775930 Cd80 CD80 molecule gene DOID:3388 periodontal disease ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:10657664|REF_RGD_ID:6902937 8775930 Cd80 CD80 molecule gene DOID:4483 rhinitis ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:21108691|REF_RGD_ID:5132622 8775930 Cd80 CD80 molecule gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:10712436|REF_RGD_ID:6902936 8775930 Cd80 CD80 molecule gene DOID:630 genetic disease ISO RGD:737082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775930 Cd80 CD80 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:737082 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22917707|REF_RGD_ID:6893647 8775930 Cd80 CD80 molecule gene DOID:874 bacterial pneumonia ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:20949109|REF_RGD_ID:4892562 8775930 Cd80 CD80 molecule gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:29039143|REF_RGD_ID:13702893 8775930 Cd80 CD80 molecule gene DOID:9001488 Human Influenza ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:10604996|PMID:19922665|REF_RGD_ID:5132270|REF_RGD_ID:5132623 8775930 Cd80 CD80 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:22004797|REF_RGD_ID:6902903 8775930 Cd80 CD80 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2314 D RGD:9068941 20200609 RGD PMID:9379015|REF_RGD_ID:6902906 8775930 Cd80 CD80 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10316 D RGD:9068941 20200609 RGD PMID:11160314|REF_RGD_ID:2307200 8775930 Cd80 CD80 molecule gene DOID:9007356 Eczema ISO RGD:737082 D RGD:9068941 20200609 RGD DNA:SNP PMID:22192168|REF_RGD_ID:6893665 8775930 Cd80 CD80 molecule gene DOID:9074 systemic lupus erythematosus ISO RGD:737082 D RGD:9068941 20200609 RGD PMID:20653937|REF_RGD_ID:6902898 8775930 Cd80 CD80 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:737082 D RGD:9068941 20200609 RGD PMID:19658094|REF_RGD_ID:5132624 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:0060180 colitis ISO RGD:1557544 D RGD:9068941 20200609 RGD PMID:20921147|REF_RGD_ID:5508755 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1344653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:10457 Legionnaires' disease ISO RGD:1557544 D RGD:9068941 20200609 RGD PMID:20685341|REF_RGD_ID:5131443 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:2841 asthma ISO RGD:1344653 D RGD:9068941 20200609 RGD DNA:insertion:cds: PMID:15718249|REF_RGD_ID:5131518 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:2841 asthma susceptibility ISO RGD:1344653 D RGD:9068941 20200609 RGD DNA:SNP: :rs2075817 (human) PMID:16918516|REF_RGD_ID:5131519 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:4483 rhinitis ISO RGD:1344653 D RGD:9068941 20200609 RGD mRNA:decreased expression:nose PMID:20384614|REF_RGD_ID:5131446 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:630 genetic disease ISO RGD:1344653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:863 nervous system disease ISO RGD:1344653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11158245 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:874 bacterial pneumonia ISO RGD:1557544 D RGD:9068941 20200609 RGD PMID:19360122|REF_RGD_ID:5131449 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1557544 D RGD:9068941 20200609 RGD PMID:23028889|REF_RGD_ID:9831166 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8775949 Nod1 nucleotide binding oligomerization domain containing 1 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:1344653 D RGD:9068941 20200609 RGD DNA:SNP: :rs2075817 (human) PMID:16918516|REF_RGD_ID:5131519 8775972 Aanat aralkylamine N-acetyltransferase gene DOID:0050628 advanced sleep phase syndrome ISO RGD:736736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12736803 8775972 Aanat aralkylamine N-acetyltransferase gene DOID:0050628 advanced sleep phase syndrome ISO RGD:736736 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A129T(human) PMID:12736803|REF_RGD_ID:1300232 8775972 Aanat aralkylamine N-acetyltransferase gene DOID:0111141 delayed sleep phase syndrome ISO RGD:736736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to PMID:12736803 8775972 Aanat aralkylamine N-acetyltransferase gene DOID:630 genetic disease ISO RGD:736736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775972 Aanat aralkylamine N-acetyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2006 D RGD:9068941 20200609 RGD PMID:18624957|REF_RGD_ID:2301030 8775972 Aanat aralkylamine N-acetyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:2006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, decreased activity:pineal gland PMID:16441550|REF_RGD_ID:2301037 8775991 Gstk1 glutathione S-transferase kappa 1 gene DOID:630 genetic disease ISO RGD:1606879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8775991 Gstk1 glutathione S-transferase kappa 1 gene DOID:8398 osteoarthritis ISO RGD:1606879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8775991 Gstk1 glutathione S-transferase kappa 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8776015 Tram1l1 translocation associated membrane protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1314990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776015 Tram1l1 translocation associated membrane protein 1 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8776022 Myo7b myosin VIIB gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1352567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 8776022 Myo7b myosin VIIB gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1352567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 8776022 Myo7b myosin VIIB gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1352567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8776022 Myo7b myosin VIIB gene DOID:630 genetic disease ISO RGD:1352567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776073 Trpc5os TRPC5 opposite strand gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:5144676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8776073 Trpc5os TRPC5 opposite strand gene DOID:12849 autistic disorder ISO RGD:5144676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8776073 Trpc5os TRPC5 opposite strand gene DOID:5419 schizophrenia ISO RGD:5144676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8776073 Trpc5os TRPC5 opposite strand gene DOID:630 genetic disease ISO RGD:5144676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776082 Wnt10a Wnt family member 10A gene DOID:0050591 tooth agenesis ISO RGD:1315958 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Reduced number of teeth | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:22581971|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24449199|PMID:24700731|PMID:25629078|PMID:25713620|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:30426266|PMID:30526585|PMID:30974434|PMID:35537890|PMID:36071541 8776082 Wnt10a Wnt family member 10A gene DOID:0050746 mantle cell lymphoma ISO RGD:1315958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 8776082 Wnt10a Wnt family member 10A gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8776082 Wnt10a Wnt family member 10A gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1315958 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:22581971|PMID:23401279|PMID:24398796|PMID:25741868|PMID:28492532|PMID:30426266 8776082 Wnt10a Wnt family member 10A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8776082 Wnt10a Wnt family member 10A gene DOID:0111647 Schopf-Schulz-Passarge syndrome ISO RGD:1315958 D RGD:7240710 20180130 OMIM 8776082 Wnt10a Wnt family member 10A gene DOID:0111647 Schopf-Schulz-Passarge syndrome ISO RGD:1315958 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome PMID:16199547|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25713620|PMID:25741868|PMID:26087098|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:28981473|PMID:29364747|PMID:30426266|PMID:30526585|PMID:30569517|PMID:30974434|PMID:31103801|PMID:33034246|PMID:35537890|PMID:36071541 8776082 Wnt10a Wnt family member 10A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8776082 Wnt10a Wnt family member 10A gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1315958 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:22581971|PMID:23401279|PMID:24033266|PMID:24449199|PMID:24700731|PMID:25629078|PMID:25713620|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:30426266|PMID:30974434|PMID:35537890 8776082 Wnt10a Wnt family member 10A gene DOID:2121 ectodermal dysplasia ISO RGD:1315958 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC | ClinVar Annotator: match by term: Ectodermal dysplasia PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:23167694|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24398796|PMID:24449199|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25713620|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:29364747|PMID:30426266|PMID:30974434|PMID:35537890 8776082 Wnt10a Wnt family member 10A gene DOID:3390 palmoplantar keratosis ISO RGD:1315958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:24449199|PMID:28492532 8776082 Wnt10a Wnt family member 10A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8776082 Wnt10a Wnt family member 10A gene DOID:630 genetic disease ISO RGD:1315958 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17847007|PMID:19559398|PMID:20979233|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:23167694|PMID:23401279|PMID:24033266|PMID:24043634|PMID:24398796|PMID:24449199|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25713620|PMID:25741868|PMID:26964878|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:28976000|PMID:28981473|PMID:29364747|PMID:30426266|PMID:30569517|PMID:30974434|PMID:35537890 8776082 Wnt10a Wnt family member 10A gene DOID:9002747 Selective Tooth Agenesis 2 ISO RGD:1315958 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 2 PMID:23401279|PMID:24043634|PMID:24311251|PMID:24312213|PMID:25629078|PMID:25741868|PMID:28492532|PMID:30526585|PMID:36071541 8776082 Wnt10a Wnt family member 10A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8776082 Wnt10a Wnt family member 10A gene DOID:9006065 Arthralgia ISO RGD:1315958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arthralgias PMID:24449199|PMID:28492532 8776082 Wnt10a Wnt family member 10A gene DOID:9008653 Selective Tooth Agenesis 4 ISO RGD:1315958 D RGD:7240710 20180130 OMIM 8776082 Wnt10a Wnt family member 10A gene DOID:9008653 Selective Tooth Agenesis 4 ISO RGD:1315958 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: LATERAL INCISORS, ABSENCE OF | ClinVar Annotator: match by term: LATERAL INCISORS, PEGGED OR MISSING | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4 PMID:16199547|PMID:17576681|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25713620|PMID:25741868|PMID:26087098|PMID:26964878|PMID:27657131|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28813618|PMID:2897600|PMID:28976000|PMID:28981473|PMID:29271000|PMID:29314690|PMID:29364747|PMID:29758562|PMID:30046887|PMID:30426266|PMID:30526585|PMID:30569517|PMID:30974434|PMID:31103801|PMID:33034246|PMID:34593752|PMID:35537890|PMID:36071541|PMID:9536098 8776082 Wnt10a Wnt family member 10A gene DOID:9008686 Odontoonychodermal Dysplasia ISO RGD:1315958 D RGD:7240710 20180130 OMIM 8776082 Wnt10a Wnt family member 10A gene DOID:9008686 Odontoonychodermal Dysplasia ISO RGD:1315958 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Odontoonychodermal dysplasia PMID:16199547|PMID:17576681|PMID:17847007|PMID:19471313|PMID:19559398|PMID:20163410|PMID:20979233|PMID:21143469|PMID:21279306|PMID:21484994|PMID:21834823|PMID:22581971|PMID:22670871|PMID:23167694|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24043634|PMID:24311251|PMID:24312213|PMID:24398796|PMID:24449199|PMID:24458874|PMID:24700731|PMID:24702986|PMID:24902757|PMID:25356970|PMID:25545742|PMID:25629078|PMID:25713620|PMID:25741868|PMID:26087098|PMID:26964878|PMID:27657131|PMID:27881089|PMID:28105635|PMID:28492532|PMID:28589954|PMID:28813618|PMID:2897600|PMID:28976000|PMID:28981473|PMID:29271000|PMID:29314690|PMID:29364747|PMID:29758562|PMID:30426266|PMID:30526585|PMID:30569517|PMID:30974434|PMID:31103801|PMID:33034246|PMID:34593752|PMID:35537890|PMID:36071541|PMID:9536098 8776090 Lgi1 leucine rich glioma inactivated 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733103 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 8776090 Lgi1 leucine rich glioma inactivated 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:733103 D RGD:7240710 20180130 OMIM 8776090 Lgi1 leucine rich glioma inactivated 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:733103 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 | ClinVar Annotator: match by term: LGI1-related condition PMID:11810107|PMID:11978770|PMID:12205652|PMID:12601709|PMID:12771268|PMID:14510822|PMID:15079010|PMID:15079011|PMID:15349881|PMID:15660777|PMID:15857855|PMID:17067999|PMID:17296837|PMID:17562837|PMID:17576681|PMID:18625862|PMID:18711109|PMID:19780791|PMID:20659151|PMID:20863412|PMID:21444903|PMID:21504429|PMID:22496201|PMID:24206907|PMID:25485908|PMID:25741868|PMID:26467025|PMID:26773249|PMID:26993267|PMID:27760137|PMID:28492532|PMID:29133209|PMID:29924869|PMID:30284771|PMID:32086284|PMID:9536098 8776090 Lgi1 leucine rich glioma inactivated 1 gene DOID:1059 intellectual disability ISO RGD:733103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8776090 Lgi1 leucine rich glioma inactivated 1 gene DOID:1826 epilepsy ISO RGD:733103 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:21504429|PMID:25741868|PMID:26773249|PMID:28492532 8776090 Lgi1 leucine rich glioma inactivated 1 gene DOID:1826 epilepsy ISO RGD:733103 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8776090 Lgi1 leucine rich glioma inactivated 1 gene DOID:630 genetic disease ISO RGD:733103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11810107|PMID:15079010|PMID:15079011|PMID:15857855|PMID:17576681|PMID:18711109|PMID:20659151|PMID:21504429|PMID:25741868|PMID:26467025|PMID:26773249|PMID:28492532|PMID:29924869|PMID:9536098 8776090 Lgi1 leucine rich glioma inactivated 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:628742 D RGD:9068941 20200609 RGD PMID:30813600|REF_RGD_ID:14995940 8776090 Lgi1 leucine rich glioma inactivated 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:733103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:25741868 8776110 Cenpj centromere protein J gene DOID:0050453 lissencephaly ISO RGD:1321379 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:15793586|PMID:16900296|PMID:20301772|PMID:20522431|PMID:25741868|PMID:28492532|PMID:34958143|PMID:35229910 8776110 Cenpj centromere protein J gene DOID:0050569 Seckel syndrome ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:18414213|PMID:25741868|PMID:28492532 8776110 Cenpj centromere protein J gene DOID:0070007 Seckel syndrome 1 ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seckel syndrome 1 PMID:18414213|PMID:20301772|PMID:20978018|PMID:25741868|PMID:28492532 8776110 Cenpj centromere protein J gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321379 D RGD:7240710 20180130 OMIM 8776110 Cenpj centromere protein J gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321379 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Seckel syndrome 4 PMID:15793586|PMID:16900296|PMID:18414213|PMID:20301772|PMID:20522431|PMID:20978018|PMID:24033266|PMID:24402816|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532 8776110 Cenpj centromere protein J gene DOID:0070012 Seckel syndrome 5 ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 5 8776110 Cenpj centromere protein J gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1321379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:12843329|PMID:15793586|PMID:20301772|PMID:22775483|PMID:25741868 8776110 Cenpj centromere protein J gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1321379 D RGD:7240710 20180130 OMIM 8776110 Cenpj centromere protein J gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1321379 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive PMID:12843329|PMID:15793586|PMID:16199547|PMID:16900296|PMID:18414213|PMID:20301772|PMID:20522431|PMID:20978018|PMID:22775483|PMID:24402816|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:32549991|PMID:34958143|PMID:35229910 8776110 Cenpj centromere protein J gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:18414213|PMID:24033266 8776110 Cenpj centromere protein J gene DOID:1059 intellectual disability ISO RGD:1321379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, moderate PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991 8776110 Cenpj centromere protein J gene DOID:10907 microcephaly ISO RGD:1321379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:18414213|PMID:25741868|PMID:28492532 8776110 Cenpj centromere protein J gene DOID:630 genetic disease ISO RGD:1321379 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 8776132 Ankrd13c ankyrin repeat domain 13C gene DOID:1059 intellectual disability ISO RGD:1604586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8776132 Ankrd13c ankyrin repeat domain 13C gene DOID:630 genetic disease ISO RGD:1604586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776154 Plau plasminogen activator, urokinase gene DOID:0050127 sinusitis ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:21711960|REF_RGD_ID:6483796 8776154 Plau plasminogen activator, urokinase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18491991 8776154 Plau plasminogen activator, urokinase gene DOID:0050855 renal fibrosis ISO RGD:733174 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:15882265|PMID:19690163|REF_RGD_ID:7241138|REF_RGD_ID:7241268 8776154 Plau plasminogen activator, urokinase gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (rat) PMID:15878520|REF_RGD_ID:8547730 8776154 Plau plasminogen activator, urokinase gene DOID:0060903 thrombosis ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased activity:extracellular region (rat) PMID:20016209|REF_RGD_ID:2325698 8776154 Plau plasminogen activator, urokinase gene DOID:0060903 thrombosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12830724|PMID:2106299|PMID:2133253|PMID:2795766|PMID:4884574|PMID:8657906 8776154 Plau plasminogen activator, urokinase gene DOID:0080348 Alzheimer's disease 1 susceptibility ISO RGD:735727 D RGD:7240710 20240320 OMIM 8776154 Plau plasminogen activator, urokinase gene DOID:0080653 urolithiasis ISO RGD:735727 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.4065C>T (human) PMID:18240004|REF_RGD_ID:7241142 8776154 Plau plasminogen activator, urokinase gene DOID:0111050 Quebec platelet disorder ISO RGD:735727 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Quebec platelet disorder PMID:12689937|PMID:18988861|PMID:20007542|PMID:22102275|PMID:25741868|PMID:28301587|PMID:28492532|PMID:32663239|PMID:33270854 8776154 Plau plasminogen activator, urokinase gene DOID:0111050 Quebec platelet disorder susceptibility ISO RGD:735727 D RGD:7240710 20240320 OMIM 8776154 Plau plasminogen activator, urokinase gene DOID:10283 prostate cancer severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10024688|REF_RGD_ID:7241264 8776154 Plau plasminogen activator, urokinase gene DOID:10487 Hirschsprung's disease ISO RGD:735727 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:28492532 8776154 Plau plasminogen activator, urokinase gene DOID:10652 Alzheimer's disease ISO RGD:735727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to PMID:12898287|PMID:15615772|PMID:15616835|PMID:16341549|PMID:28492532 8776154 Plau plasminogen activator, urokinase gene DOID:10652 Alzheimer's disease no_association ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:19889475|REF_RGD_ID:6483807 8776154 Plau plasminogen activator, urokinase gene DOID:10754 otitis media treatment IEP D RGD:11553864|PMID:2473673 20161014 RGD 8776154 Plau plasminogen activator, urokinase gene DOID:10941 intracranial aneurysm ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:21786025|REF_RGD_ID:6483795 8776154 Plau plasminogen activator, urokinase gene DOID:10952 nephritis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12671112 8776154 Plau plasminogen activator, urokinase gene DOID:11054 urinary bladder cancer ISO RGD:735727 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.4065C>T (human) PMID:16825821|REF_RGD_ID:7241144 8776154 Plau plasminogen activator, urokinase gene DOID:11054 urinary bladder cancer ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder (human) PMID:18336603|REF_RGD_ID:7241213 8776154 Plau plasminogen activator, urokinase gene DOID:11054 urinary bladder cancer treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19010488|REF_RGD_ID:4144867 8776154 Plau plasminogen activator, urokinase gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12671112|PMID:9002298 8776154 Plau plasminogen activator, urokinase gene DOID:11394 adult respiratory distress syndrome ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:17994220|REF_RGD_ID:4892109 8776154 Plau plasminogen activator, urokinase gene DOID:11446 sciatic neuropathy ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve (rat) PMID:18716863|REF_RGD_ID:6483827 8776154 Plau plasminogen activator, urokinase gene DOID:11446 sciatic neuropathy treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:21151668|REF_RGD_ID:7241585 8776154 Plau plasminogen activator, urokinase gene DOID:1168 familial hyperlipidemia ISO RGD:733174 D RGD:9068941 20200609 RGD associated with Venous Thrombosis; protein:increased expression:wall of vein, thrombus (mouse) PMID:22119245|REF_RGD_ID:6903200 8776154 Plau plasminogen activator, urokinase gene DOID:11832 visual epilepsy ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:22293605|REF_RGD_ID:6483790 8776154 Plau plasminogen activator, urokinase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19615318|REF_RGD_ID:7241800 8776154 Plau plasminogen activator, urokinase gene DOID:1461 cholesterol embolism ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16773802 8776154 Plau plasminogen activator, urokinase gene DOID:1612 breast cancer ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:nipple, discharge (human) PMID:22296682|REF_RGD_ID:7241082 8776154 Plau plasminogen activator, urokinase gene DOID:1612 breast cancer treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19500378|REF_RGD_ID:7241801 8776154 Plau plasminogen activator, urokinase gene DOID:1749 squamous cell carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD mRNA:increased expression:oral cavity (human) PMID:12866027|REF_RGD_ID:7241134 8776154 Plau plasminogen activator, urokinase gene DOID:1793 pancreatic cancer ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10467400 8776154 Plau plasminogen activator, urokinase gene DOID:1824 status epilepticus ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:17040480|REF_RGD_ID:6484215 8776154 Plau plasminogen activator, urokinase gene DOID:1824 status epilepticus ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus (rat) PMID:19527776|REF_RGD_ID:6483810 8776154 Plau plasminogen activator, urokinase gene DOID:1824 status epilepticus ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:20026272|REF_RGD_ID:6483805 8776154 Plau plasminogen activator, urokinase gene DOID:1936 atherosclerosis ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:15096455|REF_RGD_ID:7241203 8776154 Plau plasminogen activator, urokinase gene DOID:1936 atherosclerosis ISO RGD:735727 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:increased expression:plasma (human) PMID:17706748|REF_RGD_ID:7241201 8776154 Plau plasminogen activator, urokinase gene DOID:2043 hepatitis B severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18691743|REF_RGD_ID:6483828 8776154 Plau plasminogen activator, urokinase gene DOID:224 transient cerebral ischemia ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19952306|REF_RGD_ID:7241795 8776154 Plau plasminogen activator, urokinase gene DOID:224 transient cerebral ischemia ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:21375013|REF_RGD_ID:7241584 8776154 Plau plasminogen activator, urokinase gene DOID:2316 brain ischemia ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10472989|PMID:10512912|PMID:17927297|PMID:9731615 8776154 Plau plasminogen activator, urokinase gene DOID:2671 transitional cell carcinoma ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14644129 8776154 Plau plasminogen activator, urokinase gene DOID:2671 transitional cell carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:urinary tract, tumor (human) PMID:15191676|REF_RGD_ID:7241280 8776154 Plau plasminogen activator, urokinase gene DOID:2841 asthma ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 8776154 Plau plasminogen activator, urokinase gene DOID:2841 asthma ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:18519237|REF_RGD_ID:4892037 8776154 Plau plasminogen activator, urokinase gene DOID:2983 anuria ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8225663 8776154 Plau plasminogen activator, urokinase gene DOID:2986 IgA glomerulonephritis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9002298 8776154 Plau plasminogen activator, urokinase gene DOID:299 adenocarcinoma ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10467400 8776154 Plau plasminogen activator, urokinase gene DOID:3070 high grade glioma severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:7604873|REF_RGD_ID:7241260 8776154 Plau plasminogen activator, urokinase gene DOID:3071 gliosarcoma severity ISO RGD:733174 D RGD:9068941 20200609 RGD mouse gene in rat model PMID:20606645|REF_RGD_ID:7241591 8776154 Plau plasminogen activator, urokinase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:17651644|REF_RGD_ID:6484146 8776154 Plau plasminogen activator, urokinase gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:sputum, neutrophil PMID:20624254|REF_RGD_ID:6483803 8776154 Plau plasminogen activator, urokinase gene DOID:326 ischemia ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:17653104|REF_RGD_ID:6484145 8776154 Plau plasminogen activator, urokinase gene DOID:326 ischemia ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15557913|PMID:8662173 8776154 Plau plasminogen activator, urokinase gene DOID:3407 carotid artery disease ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10512912 8776154 Plau plasminogen activator, urokinase gene DOID:3525 middle cerebral artery infarction ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11677890|PMID:15181847|PMID:17702958 8776154 Plau plasminogen activator, urokinase gene DOID:3526 cerebral infarction ISO RGD:735727 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:12133459|PMID:16773802 8776154 Plau plasminogen activator, urokinase gene DOID:3576 sagittal sinus thrombosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10668740 8776154 Plau plasminogen activator, urokinase gene DOID:3770 pulmonary fibrosis ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:12376355|REF_RGD_ID:7241206 8776154 Plau plasminogen activator, urokinase gene DOID:3770 pulmonary fibrosis treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:23327706|REF_RGD_ID:7241544 8776154 Plau plasminogen activator, urokinase gene DOID:3770 pulmonary fibrosis treatment ISO RGD:735727 D RGD:9068941 20200609 RGD human protein in rat model PMID:7516275|REF_RGD_ID:7241204 8776154 Plau plasminogen activator, urokinase gene DOID:3798 pleural empyema ISO RGD:735727 D RGD:9068941 20200609 RGD Gene product used in treatment of disease PMID:20304453|REF_RGD_ID:4891955 8776154 Plau plasminogen activator, urokinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:20937265|REF_RGD_ID:4892055 8776154 Plau plasminogen activator, urokinase gene DOID:3969 thyroid gland papillary carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid gland (human) PMID:22702340|REF_RGD_ID:7241798 8776154 Plau plasminogen activator, urokinase gene DOID:4450 renal cell carcinoma severity ISO RGD:735727 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (human) PMID:20544684|REF_RGD_ID:7241133 8776154 Plau plasminogen activator, urokinase gene DOID:4483 rhinitis ISO RGD:733174 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:21339035|REF_RGD_ID:8547809 8776154 Plau plasminogen activator, urokinase gene DOID:4724 brain edema ISO RGD:3343 D RGD:9068941 20200609 RGD associated with Burns;mRNA:increased expression:brain PMID:18718505|REF_RGD_ID:6483826 8776154 Plau plasminogen activator, urokinase gene DOID:4724 brain edema ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11677890 8776154 Plau plasminogen activator, urokinase gene DOID:5082 liver cirrhosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18481824|PMID:26396155 8776154 Plau plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:20952728|REF_RGD_ID:6484133 8776154 Plau plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1908371|PMID:2174952|PMID:2382605|PMID:3068399|PMID:3984876|PMID:8416330 8776154 Plau plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:17653104|REF_RGD_ID:6484145 8776154 Plau plasminogen activator, urokinase gene DOID:5844 myocardial infarction ISO RGD:735727 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:c.*141C>T (rs4065) (human) PMID:20518747|REF_RGD_ID:6484126 8776154 Plau plasminogen activator, urokinase gene DOID:630 genetic disease ISO RGD:735727 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8776154 Plau plasminogen activator, urokinase gene DOID:649 prion disease ISO RGD:733174 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:19459212|REF_RGD_ID:6483816 8776154 Plau plasminogen activator, urokinase gene DOID:6713 cerebrovascular disease ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1265806|PMID:17308290 8776154 Plau plasminogen activator, urokinase gene DOID:783 end stage renal disease ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:kidney (rat) PMID:15506291|REF_RGD_ID:7241279 8776154 Plau plasminogen activator, urokinase gene DOID:783 end stage renal disease ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:19926968|REF_RGD_ID:6483806 8776154 Plau plasminogen activator, urokinase gene DOID:783 end stage renal disease severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:22683425|REF_RGD_ID:7241081 8776154 Plau plasminogen activator, urokinase gene DOID:783 end stage renal disease treatment ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:17869326|REF_RGD_ID:7241218 8776154 Plau plasminogen activator, urokinase gene DOID:8283 peritonitis ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:18571586|REF_RGD_ID:6484139 8776154 Plau plasminogen activator, urokinase gene DOID:8337 appendicitis ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:appendix PMID:19153874|REF_RGD_ID:6483822 8776154 Plau plasminogen activator, urokinase gene DOID:8805 intermediate coronary syndrome ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2382605 8776154 Plau plasminogen activator, urokinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:21573723|REF_RGD_ID:6483797 8776154 Plau plasminogen activator, urokinase gene DOID:9000184 Ventricular Fibrillation ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9083243 8776154 Plau plasminogen activator, urokinase gene DOID:9000217 Stomach Neoplasms ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8776154 Plau plasminogen activator, urokinase gene DOID:9000310 Lung Injury ISO RGD:3343 D RGD:9068941 20200609 RGD associated with Hyperoxia PMID:19099788|REF_RGD_ID:4143526 8776154 Plau plasminogen activator, urokinase gene DOID:9000363 Hematuria ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8225663 8776154 Plau plasminogen activator, urokinase gene DOID:9000469 Viral Myocarditis susceptibility ISO RGD:733174 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (mouse) PMID:19246678|REF_RGD_ID:7241803 8776154 Plau plasminogen activator, urokinase gene DOID:9000483 Angina Pectoris ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1730212 8776154 Plau plasminogen activator, urokinase gene DOID:9000528 Coronary Disease ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1730212|PMID:9181759 8776154 Plau plasminogen activator, urokinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 8776154 Plau plasminogen activator, urokinase gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3343 D RGD:9068941 20200609 RGD Cavernous Nerve Injury; mRNA:increased expression:pelvic ganglion (rat) PMID:22300381|REF_RGD_ID:7241556 8776154 Plau plasminogen activator, urokinase gene DOID:9001513 Asthenozoospermia ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testes, epididymis (rat) PMID:18998460|REF_RGD_ID:7241809 8776154 Plau plasminogen activator, urokinase gene DOID:9001513 Asthenozoospermia ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18998460 8776154 Plau plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:20035854|REF_RGD_ID:6484134 8776154 Plau plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8776154 Plau plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:16958060|REF_RGD_ID:2317516 8776154 Plau plasminogen activator, urokinase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:23018346|REF_RGD_ID:7241553 8776154 Plau plasminogen activator, urokinase gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased secretion:T lymphocyte (human) PMID:16387096|REF_RGD_ID:7241259 8776154 Plau plasminogen activator, urokinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (rat) PMID:15322501|REF_RGD_ID:1580123 8776154 Plau plasminogen activator, urokinase gene DOID:9002265 Kidney Neoplasms ISO RGD:735727 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (human) PMID:18336603|REF_RGD_ID:7241213 8776154 Plau plasminogen activator, urokinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11454671|PMID:16430655|PMID:17192053 8776154 Plau plasminogen activator, urokinase gene DOID:9002457 Experimental Arthritis ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:20973954|REF_RGD_ID:6483801 8776154 Plau plasminogen activator, urokinase gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1265806|PMID:15181847|PMID:17702958|PMID:8025938|PMID:9731615 8776154 Plau plasminogen activator, urokinase gene DOID:9002928 Colonic Neoplasms ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:colon, mucosa (human) PMID:3884145|REF_RGD_ID:7241262 8776154 Plau plasminogen activator, urokinase gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:735727 D RGD:9068941 20200609 RGD human tumor cell line in mouse model PMID:19214512|REF_RGD_ID:7241805 8776154 Plau plasminogen activator, urokinase gene DOID:9003023 Heart Rupture, Post-Infarction ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9403446 8776154 Plau plasminogen activator, urokinase gene DOID:9003104 Intracranial Hemorrhages ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:21779364|REF_RGD_ID:6484131 8776154 Plau plasminogen activator, urokinase gene DOID:9003104 Intracranial Hemorrhages ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10392865|PMID:10472989|PMID:10512912|PMID:17308290 8776154 Plau plasminogen activator, urokinase gene DOID:9003121 Thromboembolism ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3718210 8776154 Plau plasminogen activator, urokinase gene DOID:9003230 Graft Occlusion, Vascular ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10392865|PMID:11041470|PMID:8025938|PMID:8416330 8776154 Plau plasminogen activator, urokinase gene DOID:9003369 Strongylida Infections ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:18022622|REF_RGD_ID:6484141 8776154 Plau plasminogen activator, urokinase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:19587273|REF_RGD_ID:2316117 8776154 Plau plasminogen activator, urokinase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:hippocampus (rat) PMID:18467699|REF_RGD_ID:6483831 8776154 Plau plasminogen activator, urokinase gene DOID:9003871 Venous Thrombosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15557913|PMID:3161212|PMID:3488869|PMID:6359570 8776154 Plau plasminogen activator, urokinase gene DOID:9003936 Cardiomegaly treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:22160250|REF_RGD_ID:7241558 8776154 Plau plasminogen activator, urokinase gene DOID:9004009 Reperfusion Injury ISO RGD:3343 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:19663807|REF_RGD_ID:6483808 8776154 Plau plasminogen activator, urokinase gene DOID:9004009 Reperfusion Injury ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:18586014|REF_RGD_ID:6483830 8776154 Plau plasminogen activator, urokinase gene DOID:9004009 Reperfusion Injury ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15181847 8776154 Plau plasminogen activator, urokinase gene DOID:9004017 Chronic Hepatitis C ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:19628656|REF_RGD_ID:6483809 8776154 Plau plasminogen activator, urokinase gene DOID:9004283 Transplant Rejection ISO RGD:735727 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:14531820|REF_RGD_ID:7241140 8776154 Plau plasminogen activator, urokinase gene DOID:9004389 Bone Neoplasms ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 8776154 Plau plasminogen activator, urokinase gene DOID:9004484 Sepsis disease_progression ISO RGD:735727 D RGD:9068941 20200609 RGD Pneumonia associated sepsis PMID:21219633|REF_RGD_ID:4891938 8776154 Plau plasminogen activator, urokinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14644129|PMID:26284488 8776154 Plau plasminogen activator, urokinase gene DOID:9004610 Acute Lung Injury ISO RGD:3343 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:21473829|REF_RGD_ID:5147760 8776154 Plau plasminogen activator, urokinase gene DOID:9004610 Acute Lung Injury treatment ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:23324284|REF_RGD_ID:7241552 8776154 Plau plasminogen activator, urokinase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:15631996|REF_RGD_ID:7241205 8776154 Plau plasminogen activator, urokinase gene DOID:9004816 Jaw Cysts severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:cyst, liquid (human) PMID:20646237|REF_RGD_ID:6484123 8776154 Plau plasminogen activator, urokinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16430655 8776154 Plau plasminogen activator, urokinase gene DOID:9005172 Lung Neoplasms severity ISO RGD:735727 D RGD:9068941 20200609 RGD protein:increased expression:tumor, cytoplasm (human) PMID:2054790|REF_RGD_ID:7241261 8776154 Plau plasminogen activator, urokinase gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:3343 D RGD:9068941 20200609 RGD PMID:18052026|REF_RGD_ID:6484140 8776154 Plau plasminogen activator, urokinase gene DOID:9005372 Inflammation ISO RGD:733174 D RGD:9068941 20200609 RGD PMID:20466854|REF_RGD_ID:6484127 8776154 Plau plasminogen activator, urokinase gene DOID:9005372 Inflammation ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:20646237|REF_RGD_ID:6484123 8776154 Plau plasminogen activator, urokinase gene DOID:9005520 Genitopatellar Syndrome ISO RGD:735727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 8776154 Plau plasminogen activator, urokinase gene DOID:9005741 Intracranial Embolism and Thrombosis ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9403446 8776154 Plau plasminogen activator, urokinase gene DOID:9006024 Hypotension ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10392865 8776154 Plau plasminogen activator, urokinase gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15557913|PMID:1713745|PMID:9181759|PMID:9731615 8776154 Plau plasminogen activator, urokinase gene DOID:9007096 Stroke ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12742636 8776154 Plau plasminogen activator, urokinase gene DOID:9007356 Eczema ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:19416247|REF_RGD_ID:6483821 8776154 Plau plasminogen activator, urokinase gene DOID:9007364 Mouth Neoplasms ISO RGD:735727 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.4065C>T (human) PMID:15356878|REF_RGD_ID:7241146 8776154 Plau plasminogen activator, urokinase gene DOID:9007480 Hyperoxia ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:lung (rat) PMID:19099788|REF_RGD_ID:4143526 8776154 Plau plasminogen activator, urokinase gene DOID:9008091 Optic Nerve Injuries ISO RGD:3343 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve (rat) PMID:20798533|REF_RGD_ID:6483802 8776154 Plau plasminogen activator, urokinase gene DOID:9008217 Hemorrhage ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15502123|PMID:15557913|PMID:8225663|PMID:9266785 8776154 Plau plasminogen activator, urokinase gene DOID:9471 meningitis ISO RGD:735727 D RGD:9068941 20200609 RGD associated with Angiostrongyliasis PMID:20584616|REF_RGD_ID:6484124 8776154 Plau plasminogen activator, urokinase gene DOID:9477 pulmonary embolism ISO RGD:735727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1098216|PMID:11041470|PMID:4430106|PMID:4884574|PMID:9038699|PMID:9266785 8776154 Plau plasminogen activator, urokinase gene DOID:988 mitral valve prolapse ISO RGD:735727 D RGD:9068941 20200609 RGD PMID:15262029|REF_RGD_ID:1580896 8776173 Oxa1l OXA1L mitochondrial inner membrane protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316768 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:18716612 8776173 Oxa1l OXA1L mitochondrial inner membrane protein gene DOID:10283 prostate cancer ISO RGD:1316768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8776173 Oxa1l OXA1L mitochondrial inner membrane protein gene DOID:2661 myoepithelioma ISO RGD:1316768 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8776173 Oxa1l OXA1L mitochondrial inner membrane protein gene DOID:630 genetic disease ISO RGD:1316768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776173 Oxa1l OXA1L mitochondrial inner membrane protein gene DOID:700 mitochondrial metabolism disease ISO RGD:1316768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:30201738 8776173 Oxa1l OXA1L mitochondrial inner membrane protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316768 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8776199 Rtf1 RTF1 homolog, Paf1/RNA polymerase II complex component gene DOID:12930 dilated cardiomyopathy ISO RGD:1321685 D RGD:9068941 20230914 MouseDO 8776199 Rtf1 RTF1 homolog, Paf1/RNA polymerase II complex component gene DOID:2717 Bloom syndrome ISO RGD:1321684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8776199 Rtf1 RTF1 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1321684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776199 Rtf1 RTF1 homolog, Paf1/RNA polymerase II complex component gene DOID:9256 colorectal cancer ISO RGD:1321684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8776221 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8776221 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1351614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8776221 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8776221 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0080600 COVID-19 ISO RGD:1351614 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8776221 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:0081097 Rafiq syndrome ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8776221 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1351614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8776221 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:3652 Leigh disease ISO RGD:1351614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8776221 Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) gene DOID:630 genetic disease ISO RGD:1351614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776239 Mdk midkine gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:69142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8776239 Mdk midkine gene DOID:1059 intellectual disability ISO RGD:69142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8776239 Mdk midkine gene DOID:1790 malignant mesothelioma ISO RGD:69142 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 8776239 Mdk midkine gene DOID:2030 anxiety disorder ISO RGD:69142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19217924 8776239 Mdk midkine gene DOID:2316 brain ischemia ISO RGD:69142 D RGD:9068941 20200609 RGD PMID:12127679|REF_RGD_ID:1582476 8776239 Mdk midkine gene DOID:289 endometriosis ISO RGD:69142 D RGD:9068941 20200609 RGD PMID:15734764|REF_RGD_ID:1581202 8776239 Mdk midkine gene DOID:3070 high grade glioma ISO RGD:69142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21233844 8776239 Mdk midkine gene DOID:3454 brain infarction ISO RGD:69073 D RGD:9068941 20200609 RGD PMID:15450683|REF_RGD_ID:1582478 8776239 Mdk midkine gene DOID:4248 coronary stenosis ISO RGD:69073 D RGD:9068941 20200609 RGD PMID:10683378|REF_RGD_ID:1299187 8776239 Mdk midkine gene DOID:5419 schizophrenia ISO RGD:69143 D RGD:9068941 20220825 MouseDO OMIM:181500 8776239 Mdk midkine gene DOID:5844 myocardial infarction ISO RGD:69073 D RGD:9068941 20200609 RGD PMID:9568069|REF_RGD_ID:1582488 8776239 Mdk midkine gene DOID:630 genetic disease ISO RGD:69142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776239 Mdk midkine gene DOID:7148 rheumatoid arthritis ISO RGD:69143 D RGD:9068941 20200609 RGD PMID:15146411|REF_RGD_ID:1581200 8776239 Mdk midkine gene DOID:9002165 Diabetic Nephropathies ISO RGD:69142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17607302 8776239 Mdk midkine gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69073 D RGD:9068941 20200609 RGD PMID:9814819|REF_RGD_ID:9831448 8776239 Mdk midkine gene DOID:9004009 Reperfusion Injury ISO RGD:69143 D RGD:9068941 20200609 RGD PMID:15780085|REF_RGD_ID:1582475 8776239 Mdk midkine gene DOID:9008023 Memory Disorders ISO RGD:69142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19217924 8776239 Mdk midkine gene DOID:9008086 Developmental Disabilities ISO RGD:69142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8776248 Man1a2 mannosidase alpha class 1A member 2 gene DOID:630 genetic disease ISO RGD:1320278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776268 Tmem171 transmembrane protein 171 gene DOID:630 genetic disease ISO RGD:1606157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776268 Tmem171 transmembrane protein 171 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8776278 Ccdc65 coiled-coil domain containing 65 gene DOID:0110611 primary ciliary dyskinesia 27 ISO RGD:1604557 D RGD:7240710 20180130 OMIM 8776278 Ccdc65 coiled-coil domain containing 65 gene DOID:0110611 primary ciliary dyskinesia 27 ISO RGD:1604557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 27 PMID:16199547|PMID:17576681|PMID:23991085|PMID:24033266|PMID:24094744|PMID:25741868|PMID:28492532|PMID:9536098 8776278 Ccdc65 coiled-coil domain containing 65 gene DOID:630 genetic disease ISO RGD:1604557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8776278 Ccdc65 coiled-coil domain containing 65 gene DOID:9007073 Cough ISO RGD:1604557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cough PMID:23991085|PMID:25741868|PMID:28492532 8776278 Ccdc65 coiled-coil domain containing 65 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604557 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 8776291 Crybb3 crystallin beta B3 gene DOID:0110268 cataract 22 multiple types ISO RGD:733594 D RGD:7240710 20180130 OMIM 8776291 Crybb3 crystallin beta B3 gene DOID:0110268 cataract 22 multiple types ISO RGD:733594 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cataract 22 multiple types | ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2 PMID:15914629|PMID:19182255|PMID:23508780|PMID:24940039|PMID:25640679|PMID:25741868|PMID:26694549|PMID:27307692|PMID:28492532|PMID:32830442|PMID:33510601|PMID:33923544|PMID:34014271|PMID:34356085 8776291 Crybb3 crystallin beta B3 gene DOID:630 genetic disease ISO RGD:733594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8776291 Crybb3 crystallin beta B3 gene DOID:83 cataract ISO RGD:733594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract | ClinVar Annotator: match by term: Congenital nuclear cataract PMID:15914629|PMID:25741868|PMID:26694549|PMID:28492532 8776302 Plekhm2 pleckstrin homology and RUN domain containing M2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315942 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8776302 Plekhm2 pleckstrin homology and RUN domain containing M2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:28492532|PMID:9536098 8776302 Plekhm2 pleckstrin homology and RUN domain containing M2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098 8776302 Plekhm2 pleckstrin homology and RUN domain containing M2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315942 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8776302 Plekhm2 pleckstrin homology and RUN domain containing M2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315942 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:35862026|PMID:9536098 8776302 Plekhm2 pleckstrin homology and RUN domain containing M2 gene DOID:630 genetic disease ISO RGD:1315942 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8776302 Plekhm2 pleckstrin homology and RUN domain containing M2 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1315942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 8776326 Dcaf11 DDB1 and CUL4 associated factor 11 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1322665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8776326 Dcaf11 DDB1 and CUL4 associated factor 11 gene DOID:630 genetic disease ISO RGD:1322665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776326 Dcaf11 DDB1 and CUL4 associated factor 11 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1322665 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8776326 Dcaf11 DDB1 and CUL4 associated factor 11 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322665 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0060249 scoliosis ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:15704180|PMID:16826520|PMID:22167768|PMID:25741868|PMID:28492532|PMID:31680349 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0060476 Perlman syndrome ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0080006 bone development disease ISO RGD:732695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16826531 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome ISO RGD:732695 D RGD:7240710 20180130 OMIM 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome ISO RGD:732695 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pterygium universale PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:30868735|PMID:31230720|PMID:33060286|PMID:34440395 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:732695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16826520|PMID:16826531 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:732695 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:15704180|PMID:16199547|PMID:16826520|PMID:16826531|PMID:22167768|PMID:23261301|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25326635|PMID:25411939|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:30868735|PMID:31230720|PMID:31354645|PMID:31680349|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:0110991 Joubert syndrome 22 ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:732695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:574 peripheral nervous system disease ISO RGD:732695 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:16826520|PMID:25741868|PMID:26752647|PMID:31230720 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:630 genetic disease ISO RGD:732695 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24319099|PMID:25326635|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26752647|PMID:27245440|PMID:28492532|PMID:31230720 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:7148 rheumatoid arthritis ISO RGD:732695 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:23261301|PMID:25741868|PMID:28492532 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:870 neuropathy ISO RGD:732695 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:16826520|PMID:25741868|PMID:26752647|PMID:31230720 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732695 D RGD:7240710 20180130 OMIM 8776368 Chrng cholinergic receptor nicotinic gamma subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732695 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25326635|PMID:25411939|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:30868735|PMID:31230720|PMID:32536119|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395 8776401 Vgll4 vestigial like family member 4 gene DOID:630 genetic disease ISO RGD:1323223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776401 Vgll4 vestigial like family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0050685 small cell carcinoma ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24658001|PMID:24658002|PMID:24658004|PMID:26343384 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0050902 medulloblastoma ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1348890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features PMID:17576681|PMID:18414213|PMID:21280140|PMID:24728327|PMID:25741868|PMID:26353884|PMID:26467025|PMID:27701467|PMID:28166811|PMID:28492532|PMID:9536098 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348890 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features PMID:15756273|PMID:18414213|PMID:18437052|PMID:21280140|PMID:24448499|PMID:24728327|PMID:25741868|PMID:26353884|PMID:26467025|PMID:26744134|PMID:27701467|PMID:28492532|PMID:28875981|PMID:29641532|PMID:29758562|PMID:33680622 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070046 Coffin-Siris syndrome 4 ISO RGD:1348890 D RGD:7240710 20180130 OMIM 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0070046 Coffin-Siris syndrome 4 ISO RGD:1348890 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition PMID:10601012|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:21280140|PMID:22426308|PMID:23637025|PMID:23929686|PMID:24448499|PMID:24658001|PMID:24658002|PMID:24728327|PMID:25058500|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25326635|PMID:25741868|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26580448|PMID:26744134|PMID:26901136|PMID:27701467|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28873162|PMID:28875981|PMID:28973083|PMID:29095814|PMID:29338072|PMID:29641532|PMID:29758562|PMID:30029678|PMID:30111351|PMID:30973214|PMID:31097095|PMID:31216405|PMID:31470906|PMID:31530938|PMID:31785789|PMID:31827798|PMID:32376391|PMID:32686290|PMID:33680622|PMID:34813034|PMID:34906459|PMID:35047860|PMID:36474027|PMID:9536098 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1348890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:0111254 glutaric acidemia I ISO RGD:1348890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348890 D RGD:9068941 20200609 RGD PMID:17075831|REF_RGD_ID:2302527 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:10283 prostate cancer no_association ISO RGD:1348890 D RGD:9068941 20200609 RGD absence of somatic mutations in the samples used PMID:12684665|REF_RGD_ID:2302528 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1059 intellectual disability ISO RGD:1348890 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26467025|PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:10907 microcephaly ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1115 sarcoma ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:12849 autistic disorder ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:13810 familial hypercholesterolemia ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:1998642|PMID:25741868|PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1612 breast cancer ISO RGD:1348890 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1657 ventricular septal defect ISO RGD:1348890 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1826 epilepsy ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1882 atrial heart septal defect ISO RGD:1348890 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1348890 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome PMID:15756273|PMID:18414213|PMID:18437052|PMID:21280140|PMID:24448499|PMID:24728327|PMID:25741868|PMID:26353884|PMID:26467025|PMID:26744134|PMID:27701467|PMID:28492532|PMID:28875981|PMID:29641532|PMID:29758562|PMID:33680622 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:1969 cerebral palsy ISO RGD:1348890 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:28492532|PMID:34813034 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1348890 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:28973294 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:3413 alpha-mannosidosis ISO RGD:1348890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348890 D RGD:9068941 20200609 RGD PMID:15287030|REF_RGD_ID:2302526 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:3948 adrenocortical carcinoma ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:540 strabismus ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:5409 lung small cell carcinoma ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:6179 ovarian small cell carcinoma ISO RGD:1348890 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Small cell carcinoma of the ovary, hypercalcemic type PMID:25741868|PMID:26467025|PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:630 genetic disease ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10601012|PMID:22426308|PMID:23637025|PMID:23929686|PMID:25741868|PMID:27479843|PMID:27866340|PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:674 cleft palate ISO RGD:1348890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:22426308|PMID:25741868|PMID:28973083 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:6741 bilateral breast cancer ISO RGD:1348890 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:26467025|PMID:28492532|PMID:31874108|PMID:33558524|PMID:37460928 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1348890 D RGD:9068941 20210625 RGD DNA:SNPs: :rs11879293, rs2072382 (human) PMID:24556940|REF_RGD_ID:127285650 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:769 neuroblastoma ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:8541 Sezary's disease ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:8584 Burkitt lymphoma ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9001988 Rhabdoid Tumor Predisposition Syndrome 2 ISO RGD:1348890 D RGD:7240710 20180130 OMIM 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9001988 Rhabdoid Tumor Predisposition Syndrome 2 ISO RGD:1348890 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:19621450|PMID:20137775|PMID:21280140|PMID:21566516|PMID:22424359|PMID:22426308|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24448499|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25640679|PMID:25741868|PMID:25918285|PMID:26230154|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:27701467|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28973083|PMID:28990276|PMID:29095814|PMID:29102090|PMID:29271065|PMID:29338072|PMID:29641532|PMID:29706634|PMID:29758562|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31530938|PMID:31785789|PMID:31827798|PMID:31874108|PMID:31954538|PMID:32369273|PMID:32376391|PMID:32686290|PMID:33558524|PMID:33680622|PMID:34646395|PMID:34813034|PMID:34906459|PMID:34970085|PMID:35047860|PMID:36474027|PMID:37460928|PMID:8269278|PMID:9536098 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621728 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:heart left ventricle PMID:23702776|REF_RGD_ID:9586349 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27422367 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621728 D RGD:9068941 20200609 RGD PMID:23853776|REF_RGD_ID:9586347 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:27701467|PMID:27866340|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28873162|PMID:29102090|PMID:29271065|PMID:30111351|PMID:30973214|PMID:31097095|PMID:9536098 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:27701467|PMID:27854218|PMID:27866340|PMID:28202063|PMID:28492532|PMID:28873162|PMID:29102090|PMID:29271065|PMID:30111351|PMID:31097095|PMID:9536098 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26353884|PMID:26467025|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27854218|PMID:27866340|PMID:28202063|PMID:28492532|PMID:28873162|PMID:29102090|PMID:29271065|PMID:29446248|PMID:30111351|PMID:30973214|PMID:31097095|PMID:31954538|PMID:32575483|PMID:9536098 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27854218|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29446248|PMID:29641532|PMID:29706634|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31954538|PMID:32376391|PMID:32575483|PMID:33680622|PMID:34970085|PMID:8269278|PMID:9536098 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29446248|PMID:29641532|PMID:29706634|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31954538|PMID:32376391|PMID:32575483|PMID:33680622|PMID:34970085|PMID:8269278|PMID:9536098 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29446248|PMID:29641532|PMID:29706634|PMID:29758562|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31954538|PMID:32376391|PMID:32575483|PMID:33680622|PMID:34970085|PMID:35047860|PMID:36474027|PMID:8269278|PMID:9536098 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348890 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11085541|PMID:15756273|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18437052|PMID:20137775|PMID:21280140|PMID:21566516|PMID:23775540|PMID:23929686|PMID:24375037|PMID:24448499|PMID:24658001|PMID:24658002|PMID:24658004|PMID:24728327|PMID:25058500|PMID:25060813|PMID:25169753|PMID:25231023|PMID:25275049|PMID:25741868|PMID:25886974|PMID:25918285|PMID:26343384|PMID:26353884|PMID:26467025|PMID:26552009|PMID:26556299|PMID:26564006|PMID:26580448|PMID:26744134|PMID:26822237|PMID:26901136|PMID:26942101|PMID:27701467|PMID:27866340|PMID:27930734|PMID:28135719|PMID:28202063|PMID:28454995|PMID:28492532|PMID:28608987|PMID:28873162|PMID:28875981|PMID:28990276|PMID:29102090|PMID:29271065|PMID:29338072|PMID:29446248|PMID:29641532|PMID:29706634|PMID:29758562|PMID:30029678|PMID:30093976|PMID:30111351|PMID:30662543|PMID:30973214|PMID:31097095|PMID:31130284|PMID:31190001|PMID:31216405|PMID:31278258|PMID:31419753|PMID:31470906|PMID:31785789|PMID:31827798|PMID:31874108|PMID:31954538|PMID:32369273|PMID:32376391|PMID:32575483|PMID:33558524|PMID:33680622|PMID:34646395|PMID:34813034|PMID:34906459|PMID:34970085|PMID:35047860|PMID:36474027|PMID:37460928|PMID:8269278|PMID:9536098 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9007920 Thoracic Neoplasms ISO RGD:1348890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343384 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1348890 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9008797 Facial Asymmetry ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial asymmetry PMID:25741868 8776417 Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 gene DOID:9970 obesity ISO RGD:1348890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 8776464 Mylk2 myosin light chain kinase 2 gene DOID:0050700 cardiomyopathy ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11733062|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:29247119|PMID:31333075|PMID:31568572 8776464 Mylk2 myosin light chain kinase 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 8776464 Mylk2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:7240710 20180130 OMIM 8776464 Mylk2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29247119|PMID:31333075|PMID:31568572|PMID:9536098 8776464 Mylk2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29247119|PMID:29915097|PMID:31333075|PMID:31568572|PMID:9536098 8776464 Mylk2 myosin light chain kinase 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737455 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11733062|PMID:17576681|PMID:22995991|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29247119|PMID:29915097|PMID:31333075|PMID:31376648|PMID:31568572|PMID:34426522|PMID:9536098 8776464 Mylk2 myosin light chain kinase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737455 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31513939 8776464 Mylk2 myosin light chain kinase 2 gene DOID:14499 Fabry disease ISO RGD:737455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:28492532 8776464 Mylk2 myosin light chain kinase 2 gene DOID:630 genetic disease ISO RGD:737455 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 8776464 Mylk2 myosin light chain kinase 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 8776464 Mylk2 myosin light chain kinase 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 8776464 Mylk2 myosin light chain kinase 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:620934 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:9005973|REF_RGD_ID:1580244 8776464 Mylk2 myosin light chain kinase 2 gene DOID:9007096 Stroke ISO RGD:737455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stroke PMID:23861362|PMID:25741868|PMID:28492532 8776464 Mylk2 myosin light chain kinase 2 gene DOID:9007820 Sudden Death ISO RGD:737455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 8776481 Myom1 myomesin 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:28492532 8776481 Myom1 myomesin 1 gene DOID:0050700 cardiomyopathy ISO RGD:1346217 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 8776481 Myom1 myomesin 1 gene DOID:0060319 cardiac arrest ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest 8776481 Myom1 myomesin 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8776481 Myom1 myomesin 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:28492532 8776481 Myom1 myomesin 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 8776481 Myom1 myomesin 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1346217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:28492532 8776481 Myom1 myomesin 1 gene DOID:1059 intellectual disability ISO RGD:1346217 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8776481 Myom1 myomesin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346217 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16199547|PMID:17576681|PMID:21256114|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26036949|PMID:26656175|PMID:27600940|PMID:27662471|PMID:27854218|PMID:28323875|PMID:28492532|PMID:28986455|PMID:28991257|PMID:31130284|PMID:32368696|PMID:33658040|PMID:9536098 8776481 Myom1 myomesin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:28492532 8776481 Myom1 myomesin 1 gene DOID:630 genetic disease ISO RGD:1346217 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:27854218|PMID:28492532 8776481 Myom1 myomesin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8776481 Myom1 myomesin 1 gene DOID:9005523 Majeed Syndrome ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 8776481 Myom1 myomesin 1 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:24033266|PMID:28492532 8776481 Myom1 myomesin 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1346217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949|PMID:28492532|PMID:31130284 8776481 Myom1 myomesin 1 gene DOID:9993 hypoglycemia ISO RGD:1346217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:25741868|PMID:28492532 8776538 Lrrc14b leucine rich repeat containing 14B gene DOID:630 genetic disease ISO RGD:3418715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776549 Mctp1 multiple C2 and transmembrane domain containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605937 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8776549 Mctp1 multiple C2 and transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1605937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776549 Mctp1 multiple C2 and transmembrane domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8776549 Mctp1 multiple C2 and transmembrane domain containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605937 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8776576 Arhgef17 Rho guanine nucleotide exchange factor 17 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1320476 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8776576 Arhgef17 Rho guanine nucleotide exchange factor 17 gene DOID:1059 intellectual disability ISO RGD:1320476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8776576 Arhgef17 Rho guanine nucleotide exchange factor 17 gene DOID:630 genetic disease ISO RGD:1320476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776602 Sds serine dehydratase gene DOID:630 genetic disease ISO RGD:734053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776602 Sds serine dehydratase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351629 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1551869 D RGD:9068941 20200609 RGD PMID:12351651|REF_RGD_ID:1331842 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:12987 agranulocytosis ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14617031 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:12987 agranulocytosis ISO RGD:1351629 D RGD:9068941 20200609 RGD associated with schizophrenia;DNA:SNPs:exons, intron:multiple PMID:14617031|REF_RGD_ID:11073696 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1351629 D RGD:9068941 20200609 RGD DNA:deletion:promoter: (human) PMID:18314446|REF_RGD_ID:11073691 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1351629 D RGD:7240710 20230505 OMIM 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:2394 ovarian cancer ISO RGD:1351629 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:2773 contact dermatitis ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1351629 D RGD:9068941 20200609 RGD DNA:SNP: :rs1143684 (human) PMID:21351093|REF_RGD_ID:11073689 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:4961 bone marrow disease ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12351651 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1351629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:9002514 Neointima ISO RGD:1303320 D RGD:9068941 20200609 RGD PMID:22508052|REF_RGD_ID:11073699 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:16678022|REF_RGD_ID:10769360 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:9008023 Memory Disorders ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20861374 8776617 Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1351629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8776633 Prc1 protein regulator of cytokinesis 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8776633 Prc1 protein regulator of cytokinesis 1 gene DOID:2717 Bloom syndrome ISO RGD:1323372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8776633 Prc1 protein regulator of cytokinesis 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1323372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8776633 Prc1 protein regulator of cytokinesis 1 gene DOID:3459 breast carcinoma ISO RGD:1323372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma 8776633 Prc1 protein regulator of cytokinesis 1 gene DOID:630 genetic disease ISO RGD:1323372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776633 Prc1 protein regulator of cytokinesis 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1323372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8776633 Prc1 protein regulator of cytokinesis 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1323372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 8776633 Prc1 protein regulator of cytokinesis 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038754 8776633 Prc1 protein regulator of cytokinesis 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8776668 Insl5 insulin like 5 gene DOID:1059 intellectual disability ISO RGD:1350939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8776668 Insl5 insulin like 5 gene DOID:630 genetic disease ISO RGD:1350939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776674 Map7 microtubule associated protein 7 gene DOID:0111955 immunodeficiency 27A ISO RGD:1318886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 8776674 Map7 microtubule associated protein 7 gene DOID:630 genetic disease ISO RGD:1318886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776674 Map7 microtubule associated protein 7 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1318886 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8776727 Mon1a MON1 homolog A, secretory trafficking associated gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8776727 Mon1a MON1 homolog A, secretory trafficking associated gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8776727 Mon1a MON1 homolog A, secretory trafficking associated gene DOID:2351 iron metabolism disease ISO RGD:1601843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632513 8776727 Mon1a MON1 homolog A, secretory trafficking associated gene DOID:630 genetic disease ISO RGD:1601843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776727 Mon1a MON1 homolog A, secretory trafficking associated gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8776727 Mon1a MON1 homolog A, secretory trafficking associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601843 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8776745 Defb119 defensin beta 119 gene DOID:229 female reproductive system disease ISO RGD:1615624 D RGD:9068941 20230202 MouseDO 8776745 Defb119 defensin beta 119 gene DOID:630 genetic disease ISO RGD:1606419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776752 Lpgat1 lysophosphatidylglycerol acyltransferase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8776752 Lpgat1 lysophosphatidylglycerol acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1353817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776752 Lpgat1 lysophosphatidylglycerol acyltransferase 1 gene DOID:9004657 Weight Gain ISO RGD:1353817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8776752 Lpgat1 lysophosphatidylglycerol acyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8776781 Myoc myocilin gene DOID:1067 open-angle glaucoma ISO RGD:737429 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Open-angle glaucoma PMID:10196380|PMID:11004290|PMID:11133859|PMID:11803488|PMID:12356829|PMID:12442283|PMID:12872267|PMID:14764620|PMID:16636654|PMID:19145250|PMID:21552496|PMID:21850185|PMID:22736945|PMID:22933836|PMID:23922489|PMID:25741868|PMID:26633542|PMID:28492532|PMID:35196929|PMID:9535666|PMID:9772276 8776781 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:7240710 20180130 OMIM 8776781 Myoc myocilin gene DOID:1068 juvenile glaucoma ISO RGD:737429 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders PMID:10196380|PMID:10330365|PMID:10545602|PMID:10644174|PMID:10798654|PMID:10815160|PMID:10819638|PMID:10873982|PMID:10980537|PMID:11004290|PMID:11133859|PMID:11152659|PMID:11281418|PMID:11292420|PMID:11298682|PMID:11535458|PMID:11604506|PMID:11774072|PMID:11803488|PMID:11815346|PMID:12189160|PMID:12356829|PMID:12447164|PMID:12522550|PMID:12868033|PMID:12872267|PMID:14193667|PMID:14627955|PMID:14688426|PMID:14767915|PMID:15025728|PMID:15069026|PMID:15723004|PMID:15733270|PMID:15790895|PMID:15851979|PMID:16148883|PMID:16288197|PMID:16297911|PMID:16401791|PMID:16466712|PMID:16636654|PMID:17210859|PMID:17438518|PMID:17499207|PMID:17562996|PMID:17563717|PMID:17615537|PMID:17867509|PMID:17893664|PMID:18728751|PMID:18776955|PMID:19023451|PMID:19145250|PMID:19234343|PMID:20021252|PMID:21552496|PMID:21612213|PMID:21850185|PMID:22194650|PMID:22736945|PMID:22933836|PMID:23029558|PMID:23304066|PMID:23922489|PMID:24033266|PMID:24732711|PMID:24825108|PMID:25741868|PMID:25777973|PMID:26396484|PMID:26633542|PMID:27092720|PMID:27485216|PMID:28492532|PMID:30484747|PMID:32818018|PMID:35196929|PMID:35615698|PMID:3756132|PMID:6770678|PMID:8513321|PMID:9005853|PMID:9328473|PMID:9345106|PMID:9361308|PMID:9510647|PMID:9535666|PMID:9556305|PMID:9639450|PMID:9697688|PMID:9754180|PMID:9804137 8776781 Myoc myocilin gene DOID:1068 juvenile glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human) PMID:17893664|REF_RGD_ID:7401192 8776781 Myoc myocilin gene DOID:1070 primary open angle glaucoma ISO RGD:737429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:10815160|PMID:11004290|PMID:11292420|PMID:11535458|PMID:11803488|PMID:11815346|PMID:12189160|PMID:12522550|PMID:12872267|PMID:17562996|PMID:17615537|PMID:19023451|PMID:20021252|PMID:22933836|PMID:23029558|PMID:23304066|PMID:24732711|PMID:25741868|PMID:26396484|PMID:28492532|PMID:9005853|PMID:9639450 8776781 Myoc myocilin gene DOID:1070 primary open angle glaucoma no_association ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1000C>G (human) PMID:12215093|REF_RGD_ID:7401240 8776781 Myoc myocilin gene DOID:1070 primary open angle glaucoma severity ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snp:cds:pT377M (human) PMID:16431959|REF_RGD_ID:7401245 8776781 Myoc myocilin gene DOID:1070 primary open angle glaucoma severity ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1000C>G (human) PMID:11595024|REF_RGD_ID:1600842 8776781 Myoc myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snp:cds:p.G367R (human) PMID:21655360|REF_RGD_ID:7401170 8776781 Myoc myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snps, deletion:cds:p.G326S, p.T286R, p.Y453MfsX11 (human) PMID:22879734|REF_RGD_ID:7401168 8776781 Myoc myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snps:cds:multiple (human) PMID:12189160|REF_RGD_ID:7401189 8776781 Myoc myocilin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:snps:cds:p.G12R, p.V53A, p.T353I (human) PMID:19145250|REF_RGD_ID:7401163 8776781 Myoc myocilin gene DOID:11211 buphthalmos ISO RGD:737429 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic PMID:12447164|PMID:15025728|PMID:15723004|PMID:15733270|PMID:16288197|PMID:16466712|PMID:17563717|PMID:22194650|PMID:22736945|PMID:25741868|PMID:28492532|PMID:35196929 8776781 Myoc myocilin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:737429 D RGD:9068941 20200609 RGD DNA:Haplotype: : PMID:16148883|REF_RGD_ID:7771548 8776781 Myoc myocilin gene DOID:1540 parathyroid carcinoma ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8776781 Myoc myocilin gene DOID:1686 glaucoma ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:10196380|PMID:10330365|PMID:10545602|PMID:10798654|PMID:10980537|PMID:11004290|PMID:11133859|PMID:11152659|PMID:11281418|PMID:11298682|PMID:11803488|PMID:12189160|PMID:12356829|PMID:12442283|PMID:12872267|PMID:14688426|PMID:14764620|PMID:14767915|PMID:15790895|PMID:16148883|PMID:16466712|PMID:16636654|PMID:17438518|PMID:17893664|PMID:18776955|PMID:19145250|PMID:21552496|PMID:21850185|PMID:22736945|PMID:22933836|PMID:23029558|PMID:23922489|PMID:24033266|PMID:25741868|PMID:27485216|PMID:28492532|PMID:35196929|PMID:9535666|PMID:9772276|PMID:9804137 8776781 Myoc myocilin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:620430 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:15610237|REF_RGD_ID:7401266 8776781 Myoc myocilin gene DOID:6000 congestive heart failure ISO RGD:737429 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8776781 Myoc myocilin gene DOID:627 severe combined immunodeficiency ISO RGD:737429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10815160|PMID:11004290|PMID:11292420|PMID:11535458|PMID:11803488|PMID:11815346|PMID:12189160|PMID:12522550|PMID:12872267|PMID:17562996|PMID:17615537|PMID:19023451|PMID:20021252|PMID:22933836|PMID:23029558|PMID:23304066|PMID:24732711|PMID:25741868|PMID:26396484|PMID:28492532|PMID:9005853|PMID:9639450 8776781 Myoc myocilin gene DOID:630 genetic disease ISO RGD:737429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8776781 Myoc myocilin gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8776781 Myoc myocilin gene DOID:9000998 Brain Injuries ISO RGD:620430 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:12799138|REF_RGD_ID:7401267 8776781 Myoc myocilin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8776781 Myoc myocilin gene DOID:9007708 Glaucoma 1, Open Angle, E ISO RGD:737429 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, E PMID:10545602|PMID:10798654|PMID:10980537|PMID:11298682|PMID:11604506|PMID:11774072|PMID:12189160|PMID:14688426|PMID:15851979|PMID:16466712|PMID:17438518|PMID:17615537|PMID:18776955|PMID:19145250|PMID:21552496|PMID:21612213|PMID:21850185|PMID:22933836|PMID:25741868|PMID:28492532|PMID:35196929|PMID:9535666|PMID:9804137 8776781 Myoc myocilin gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8776781 Myoc myocilin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8776781 Myoc myocilin gene DOID:9282 ocular hypertension ISO RGD:620430 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:17102796|REF_RGD_ID:1601004 8776781 Myoc myocilin gene DOID:9282 ocular hypertension ISO RGD:734341 D RGD:9068941 20200609 RGD mRNA:decreased expression:eye, trabecular mesh (mouse) PMID:23322580|REF_RGD_ID:7394804 8776781 Myoc myocilin gene DOID:9282 ocular hypertension ISO RGD:737429 D RGD:9068941 20200609 RGD associated with Glaucoma, Primary Open Angle; DNA:snp:cds:p.T377M (human) PMID:20107173|REF_RGD_ID:7394831 8776781 Myoc myocilin gene DOID:9282 ocular hypertension treatment ISO RGD:734341 D RGD:9068941 20200609 RGD PMID:23322580|REF_RGD_ID:7394804 8776788 Snx21 sorting nexin family member 21 gene DOID:2234 focal epilepsy ISO RGD:1322486 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8776788 Snx21 sorting nexin family member 21 gene DOID:630 genetic disease ISO RGD:1322486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776788 Snx21 sorting nexin family member 21 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1322486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8776800 Dctn1 dynactin subunit 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:28492532 8776800 Dctn1 dynactin subunit 1 gene DOID:0050890 synucleinopathy ISO RGD:62038 D RGD:9068941 20200609 RGD PMID:19295143|REF_RGD_ID:11049591 8776800 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:7240710 20240306 OMIM 8776800 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29089398|PMID:29339765|PMID:29525180|PMID:29738522|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 8776800 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:29525180|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 8776800 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28717666|PMID:29525180|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 8776800 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:24627108|PMID:25025039|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28717666|PMID:29738522|PMID:30373780|PMID:32023010|PMID:32028661|PMID:32402491|PMID:33369814|PMID:9536098 8776800 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:23985322|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31788332|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32397312|PMID:32402491|PMID:32461654|PMID:32712562|PMID:33369814|PMID:33601107|PMID:33973882|PMID:9536098 8776800 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:23985322|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31788332|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32397312|PMID:32402491|PMID:32461654|PMID:32712562|PMID:32843152|PMID:33369814|PMID:33601107|PMID:33973882|PMID:35873773|PMID:9536098 8776800 Dctn1 dynactin subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603060 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:23881933|PMID:23985322|PMID:24484619|PMID:24627108|PMID:24881494|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25558820|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29339765|PMID:29525180|PMID:29738522|PMID:30373780|PMID:31788332|PMID:31996268|PMID:32023010|PMID:32028661|PMID:32325477|PMID:32397312|PMID:32402491|PMID:32461654|PMID:32579787|PMID:32712562|PMID:32843152|PMID:33369814|PMID:33408239|PMID:33601107|PMID:33973882|PMID:35047667|PMID:35586532|PMID:35873773|PMID:9536098 8776800 Dctn1 dynactin subunit 1 gene DOID:0060486 Perry syndrome ISO RGD:1603060 D RGD:7240710 20240306 OMIM 8776800 Dctn1 dynactin subunit 1 gene DOID:0060486 Perry syndrome ISO RGD:1603060 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16240349|PMID:16505168|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:18852346|PMID:19136952|PMID:19279216|PMID:19506225|PMID:20437543|PMID:20945553|PMID:22777741|PMID:23143281|PMID:23628468|PMID:23881933|PMID:24343258|PMID:24484619|PMID:24604904|PMID:24627108|PMID:24676999|PMID:25025039|PMID:25109764|PMID:25299611|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28625595|PMID:28792508|PMID:29525180|PMID:32028661|PMID:32402491|PMID:32461654|PMID:32717578|PMID:33369814|PMID:33973882|PMID:35047667 8776800 Dctn1 dynactin subunit 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1603060 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8776800 Dctn1 dynactin subunit 1 gene DOID:0080855 Parkinsonism ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868|PMID:28492532|PMID:28518168|PMID:29525180|PMID:32461654 8776800 Dctn1 dynactin subunit 1 gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:1603060 D RGD:7240710 20240306 OMIM 8776800 Dctn1 dynactin subunit 1 gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B PMID:12062019|PMID:12627231|PMID:15326253|PMID:16199547|PMID:16505168|PMID:17576681|PMID:17824900|PMID:18094236|PMID:18364389|PMID:18812314|PMID:19279216|PMID:19506225|PMID:22777741|PMID:23143281|PMID:24627108|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25590979|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26429889|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:27573046|PMID:28130640|PMID:28166811|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28792508|PMID:29525180|PMID:32028661|PMID:32402491|PMID:32461654|PMID:33369814|PMID:33973882|PMID:9536098 8776800 Dctn1 dynactin subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1603060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15326253|PMID:18812314|PMID:19506225|PMID:23143281|PMID:24604904|PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532 8776800 Dctn1 dynactin subunit 1 gene DOID:1289 neurodegenerative disease ISO RGD:62330 D RGD:9068941 20200609 RGD PMID:18364389|REF_RGD_ID:5539209 8776800 Dctn1 dynactin subunit 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603060 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to | ClinVar Annotator: match by term: Charcot disease PMID:15326253|PMID:16240349|PMID:17824900|PMID:18812314|PMID:19506225|PMID:22777741|PMID:23143281|PMID:25025039|PMID:25382069|PMID:25741868|PMID:26429889|PMID:26467025|PMID:26662454|PMID:27132499|PMID:28130640|PMID:28430856|PMID:28492532|PMID:28717666|PMID:32579787 8776800 Dctn1 dynactin subunit 1 gene DOID:3324 mood disorder ISO RGD:1603060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19136952 8776800 Dctn1 dynactin subunit 1 gene DOID:543 dystonia ISO RGD:1603060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:25741868|PMID:28492532|PMID:30682498 8776800 Dctn1 dynactin subunit 1 gene DOID:574 peripheral nervous system disease ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 8776800 Dctn1 dynactin subunit 1 gene DOID:630 genetic disease ISO RGD:1603060 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15326253|PMID:16199547|PMID:16240349|PMID:17576681|PMID:18812314|PMID:19506225|PMID:23143281|PMID:23985322|PMID:24627108|PMID:25025039|PMID:25299611|PMID:25382069|PMID:25635128|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662454|PMID:26742954|PMID:27132499|PMID:28166811|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28518168|PMID:28709720|PMID:28717666|PMID:28792508|PMID:29525180|PMID:30270202|PMID:31788332|PMID:32023010|PMID:32028661|PMID:32397312|PMID:32461654|PMID:32843152|PMID:33369814|PMID:33408239|PMID:35047667|PMID:35873773|PMID:9536098 8776800 Dctn1 dynactin subunit 1 gene DOID:870 neuropathy ISO RGD:1603060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 8776800 Dctn1 dynactin subunit 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1603060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8776800 Dctn1 dynactin subunit 1 gene DOID:9003671 Hypoventilation ISO RGD:1603060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19136952 8776800 Dctn1 dynactin subunit 1 gene DOID:9255 frontotemporal dementia ISO RGD:1603060 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:28492532|PMID:35873773 8776869 Mgp matrix Gla protein gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:737291 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8776869 Mgp matrix Gla protein gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737291 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:19350115 8776869 Mgp matrix Gla protein gene DOID:10286 prostate carcinoma ISO RGD:737291 D RGD:9068941 20200609 RGD mRNA:increased expression:primary tumor; mRNA:decreased expression:metastatic tissue:decreased or absent expression in metastases and cell lines from metastatic tumors PMID:1399132|REF_RGD_ID:2293578 8776869 Mgp matrix Gla protein gene DOID:182 calcinosis ISO RGD:737291 D RGD:9068941 20200609 RGD PMID:15045141|REF_RGD_ID:1582501 8776869 Mgp matrix Gla protein gene DOID:2349 arteriosclerosis ISO RGD:737291 D RGD:9068941 20200609 RGD PMID:8200973|REF_RGD_ID:1582504 8776869 Mgp matrix Gla protein gene DOID:305 carcinoma ISO RGD:737291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8776869 Mgp matrix Gla protein gene DOID:3304 germinoma ISO RGD:737291 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor PMID:1399132|REF_RGD_ID:2293578 8776869 Mgp matrix Gla protein gene DOID:3454 brain infarction ISO RGD:3088 D RGD:9068941 20230527 RGD mRNA:increased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8776869 Mgp matrix Gla protein gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737291 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:inversely related to tumor size (0.02510x increase over normal tissue and 87% showed >100x increase PMID:11358798|REF_RGD_ID:2293586 8776869 Mgp matrix Gla protein gene DOID:9002991 Keutel Syndrome ISO RGD:737291 D RGD:7240710 20180130 OMIM 8776869 Mgp matrix Gla protein gene DOID:9002991 Keutel Syndrome ISO RGD:737291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keutel syndrome PMID:15810001|PMID:25741868|PMID:28492532|PMID:9916809 8776869 Mgp matrix Gla protein gene DOID:9003281 Spontaneous Abortions ISO RGD:737291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8776869 Mgp matrix Gla protein gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737291 D RGD:9068941 20200609 RGD protein:increased expression:tumor, adjacent dysplastic cervical epithelium:7/8 (88%) cervical squamous cell carcinomas PMID:17960611|REF_RGD_ID:2293584 8776869 Mgp matrix Gla protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8776869 Mgp matrix Gla protein gene DOID:9006332 Vascular Calcification ISO RGD:737291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21705322 8776869 Mgp matrix Gla protein gene DOID:9007661 Dwarfism ISO RGD:737291 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532|PMID:37923733 8776877 Fuz fuzzy planar cell polarity protein gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 8776877 Fuz fuzzy planar cell polarity protein gene DOID:0080074 neural tube defect ISO RGD:1602203 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:21840926|PMID:25741868|PMID:28492532 8776877 Fuz fuzzy planar cell polarity protein gene DOID:0080074 neural tube defect susceptibility ISO RGD:1602203 D RGD:7240710 20190502 OMIM 8776877 Fuz fuzzy planar cell polarity protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8776877 Fuz fuzzy planar cell polarity protein gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1602203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:29068549 8776877 Fuz fuzzy planar cell polarity protein gene DOID:630 genetic disease ISO RGD:1602203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1347094 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0050476 Barth syndrome ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1347094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115542 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:1347094 D RGD:7240710 20180130 OMIM 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0081078 ectodermal dysplasia and immunodeficiency 1 ISO RGD:1347094 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 PMID:11242109|PMID:11590134|PMID:15229184|PMID:15833888|PMID:16532398|PMID:16818673|PMID:16950813|PMID:17072331|PMID:17910706|PMID:18222329|PMID:18851874|PMID:19903677|PMID:21622647|PMID:24682681|PMID:25741868|PMID:26117626|PMID:28993958|PMID:29077208|PMID:30422821|PMID:31965418|PMID:33224153 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1347094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0112003 immunodeficiency 33 ISO RGD:1347094 D RGD:7240710 20180130 OMIM 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:0112003 immunodeficiency 33 ISO RGD:1347094 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:11590134|PMID:15229184|PMID:16950813|PMID:18222329|PMID:20529958|PMID:25741868|PMID:28993958|PMID:30422821|PMID:31965418|PMID:33224153 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:10588 adrenoleukodystrophy ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1347094 D RGD:7240710 20180130 OMIM 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1347094 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Incontinentia pigmenti syndrome PMID:11590134|PMID:18222329|PMID:18350553|PMID:25741868 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12365 malaria ISO RGD:1347094 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10502785|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:1945893|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34659341|PMID:34762759|PMID:34895177|PMID:35313968|PMID:35840819|PMID:6805883|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:12849 autistic disorder ISO RGD:1347094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:13241 Behcet's disease ISO RGD:1347094 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:1217A>T(D406V)(human) PMID:20412081|REF_RGD_ID:12791269 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:13628 favism ISO RGD:1347094 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:10502785|PMID:10627140|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:18046504|PMID:18177777|PMID:1945893|PMID:19589177|PMID:21446359|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31862010|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34620237|PMID:34659341|PMID:34762759|PMID:34895177|PMID:34989400|PMID:35313968|PMID:35840819|PMID:6805883|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2237 hepatitis ISO RGD:1620111 D RGD:9068941 20220811 RGD PMID:25173965|PMID:29551768|REF_RGD_ID:153297807|REF_RGD_ID:153305943 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2729 dyskeratosis congenita ISO RGD:1347094 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:1347094 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: G6PD deficiency | ClinVar Annotator: match by term: Glucose-6-phosphate dehydrogenase deficiency PMID:10502785|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:1945893|PMID:25741868|PMID:28492532|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34659341|PMID:34762759|PMID:34895177|PMID:35313968|PMID:35840819|PMID:6805883|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:3156 hypomelanosis of Ito ISO RGD:1347094 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Incontinentia pigmenti syndrome PMID:11590134|PMID:18222329|PMID:18350553|PMID:25741868 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:3571 liver cancer ISO RGD:1347094 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27367027|REF_RGD_ID:153305911 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:607 paraplegia ISO RGD:1347094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:630 genetic disease ISO RGD:1347094 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502785|PMID:11601226|PMID:12064920|PMID:15727905|PMID:16329560|PMID:16607506|PMID:1945893|PMID:25741868|PMID:28492532|PMID:29077208|PMID:29300386|PMID:29339739|PMID:30045279|PMID:30315739|PMID:31489982|PMID:31863082|PMID:3198117|PMID:33051526|PMID:33072997|PMID:34659341|PMID:34762759|PMID:34895177|PMID:35313968|PMID:35840819|PMID:6805883|PMID:7803800|PMID:8244337|PMID:8471773|PMID:9589612 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma ISO RGD:1347094 D RGD:9068941 20220811 RGD protein:decreased expression:liver (human) PMID:22176836|PMID:25173965|REF_RGD_ID:153297813|REF_RGD_ID:153305943 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma ISO RGD:1620111 D RGD:9068941 20220811 RGD PMID:17292824|PMID:29551768|REF_RGD_ID:153297807|REF_RGD_ID:153305945 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1620111 D RGD:9068941 20220811 RGD PMID:22922425|PMID:24971483|REF_RGD_ID:11079569|REF_RGD_ID:153305947 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:17426653|REF_RGD_ID:12791281 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:8927 learning disability ISO RGD:1347094 D RGD:9068941 20200609 RGD associated with Incontinentia Pigmenti;DNA:deletion:exons: PMID:24489960|REF_RGD_ID:12791267 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1347094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002139 Systemic Autoinflammatory Disease, X-Linked ISO RGD:1347094 D RGD:7240710 20220810 OMIM 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002139 Systemic Autoinflammatory Disease, X-Linked ISO RGD:1347094 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED PMID:25741868 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:22381173|REF_RGD_ID:12791280 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002457 Experimental Arthritis treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:16684367|REF_RGD_ID:12791276 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9002720 Splenomegaly ISO RGD:1347094 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9005172 Lung Neoplasms ISO RGD:1347094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:19195057|REF_RGD_ID:12791282 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9256 colorectal cancer ISO 1618153 D RGD:9068941 20220811 RGD PMID:28502111|REF_RGD_ID:153305906 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:735223 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9452 steatotic liver disease ISO RGD:1620111 D RGD:9068941 20220825 MouseDO OMIM:228100 8776917 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma gene DOID:9778 irritable bowel syndrome treatment ISO RGD:735223 D RGD:9068941 20200609 RGD PMID:22428658|REF_RGD_ID:12791275 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:736397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0080690 RASopathy ISO RGD:736397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:736397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:1059 intellectual disability ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:10754 otitis media ISO RGD:3633 D RGD:9068941 20200609 RGD PMID:12206256|REF_RGD_ID:6484586 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:11832 visual epilepsy ISO RGD:3633 D RGD:9068941 20200609 RGD Scn2b mRNA levels in hippocampus respond to intraperitoneal kainate, which produces seizures PMID:9672387|REF_RGD_ID:2317305 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:630 genetic disease ISO RGD:736397 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:736397 D RGD:7240710 20180130 OMIM 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:9004100 Familial Atrial Fibrillation 14 ISO RGD:736397 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 | ClinVar Annotator: match by term: SCN2B-related condition PMID:16199547|PMID:17556197|PMID:17576681|PMID:17623065|PMID:19808477|PMID:23559163|PMID:23861362|PMID:24144883|PMID:25741868|PMID:26220970|PMID:28202948|PMID:28341588|PMID:28492532|PMID:28597987|PMID:30662450|PMID:30821013|PMID:30847666|PMID:31110529|PMID:34320850|PMID:9536098 8776962 Scn2b sodium voltage-gated channel beta subunit 2 gene DOID:9007661 Dwarfism ISO RGD:736397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8776970 Il20 interleukin 20 gene DOID:0050589 inflammatory bowel disease ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8776970 Il20 interleukin 20 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8776970 Il20 interleukin 20 gene DOID:12849 autistic disorder ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8776970 Il20 interleukin 20 gene DOID:1540 parathyroid carcinoma ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8776970 Il20 interleukin 20 gene DOID:3021 acute kidney failure ISO RGD:1353403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18496552 8776970 Il20 interleukin 20 gene DOID:630 genetic disease ISO RGD:1353403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776970 Il20 interleukin 20 gene DOID:7148 rheumatoid arthritis ISO RGD:1353403 D RGD:9068941 20200609 RGD PMID:16947773|REF_RGD_ID:5147395 8776970 Il20 interleukin 20 gene DOID:783 end stage renal disease ISO RGD:1353403 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18639518|REF_RGD_ID:5147394 8776970 Il20 interleukin 20 gene DOID:783 end stage renal disease ISO RGD:1583578 D RGD:9068941 20200609 RGD protein:increased expression:multiple organs PMID:18639518|REF_RGD_ID:5147394 8776970 Il20 interleukin 20 gene DOID:8893 psoriasis ISO RGD:1353403 D RGD:9068941 20200609 RGD associated with Respiratory Tract Infections;DNA:SNP:enhancer:-1723C>G (rs1713239) (human) PMID:21109726|REF_RGD_ID:5147391 8776970 Il20 interleukin 20 gene DOID:9002457 Experimental Arthritis ISO RGD:1583578 D RGD:9068941 20200609 RGD PMID:20722035|REF_RGD_ID:5147393 8776970 Il20 interleukin 20 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353403 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8776970 Il20 interleukin 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8776970 Il20 interleukin 20 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 8776986 Yipf4 Yip1 domain family member 4 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1604267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868 8776986 Yipf4 Yip1 domain family member 4 gene DOID:607 paraplegia ISO RGD:1604267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 8776986 Yipf4 Yip1 domain family member 4 gene DOID:630 genetic disease ISO RGD:1604267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8776998 Tbx4 T-box transcription factor 4 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1319185 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8776998 Tbx4 T-box transcription factor 4 gene DOID:0111382 ischiocoxopodopatellar syndrome ISO RGD:1319185 D RGD:7240710 20180130 OMIM 8776998 Tbx4 T-box transcription factor 4 gene DOID:0111382 ischiocoxopodopatellar syndrome ISO RGD:1319185 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Coxopodopatellar syndrome | ClinVar Annotator: match by term: TBX4-related condition PMID:11303519|PMID:15106123|PMID:16199547|PMID:23592887|PMID:24033266|PMID:25741868|PMID:27587546|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30004997|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31727138|PMID:31761294|PMID:31965066|PMID:32079640|PMID:32581362|PMID:32860008|PMID:35852389 8776998 Tbx4 T-box transcription factor 4 gene DOID:11111 hydronephrosis ISO RGD:1319185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:25741868|PMID:31965066 8776998 Tbx4 T-box transcription factor 4 gene DOID:11372 megacolon ISO RGD:1319185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8776998 Tbx4 T-box transcription factor 4 gene DOID:381 arthropathy susceptibility ISO RGD:1319185 D RGD:9068941 20200609 RGD Small Patella Syndrome, OMIM:147891;DNA:missense mutation, nonsense mutation:exon, exon:p.G248V, p.Q62X PMID:15106123|REF_RGD_ID:1601422 8776998 Tbx4 T-box transcription factor 4 gene DOID:630 genetic disease ISO RGD:1319185 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8776998 Tbx4 T-box transcription factor 4 gene DOID:9000096 Lung Agenesis ISO RGD:1319185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypoplasia 8776998 Tbx4 T-box transcription factor 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1319185 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:15106123|PMID:16199547|PMID:25741868|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30004997|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31727138|PMID:31761294|PMID:31965066|PMID:32079640|PMID:32581362|PMID:32860008|PMID:33066286 8776998 Tbx4 T-box transcription factor 4 gene DOID:9005155 Amelia, Autosomal Recessive ISO RGD:1319185 D RGD:7240710 20200226 OMIM 8776998 Tbx4 T-box transcription factor 4 gene DOID:9005155 Amelia, Autosomal Recessive ISO RGD:1319185 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive amelia PMID:24033266|PMID:25741868|PMID:28492532|PMID:31761294|PMID:31965066 8776998 Tbx4 T-box transcription factor 4 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1319185 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:15106123|PMID:16199547|PMID:17576681|PMID:23592887|PMID:25741868|PMID:27587546|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30004997|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31727138|PMID:31761294|PMID:31965066|PMID:32079640|PMID:32348326|PMID:32581362|PMID:32860008|PMID:33066286|PMID:33971972|PMID:34557690|PMID:9536098 8777011 Vta1 vesicle trafficking 1 gene DOID:630 genetic disease ISO RGD:1312819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777011 Vta1 vesicle trafficking 1 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1312819 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8777023 Tsc22d1 TSC22 domain family member 1 gene DOID:305 carcinoma ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8777023 Tsc22d1 TSC22 domain family member 1 gene DOID:630 genetic disease ISO RGD:1604401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777023 Tsc22d1 TSC22 domain family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8777023 Tsc22d1 TSC22 domain family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8777023 Tsc22d1 TSC22 domain family member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15833021|PMID:17533171 8777023 Tsc22d1 TSC22 domain family member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8777023 Tsc22d1 TSC22 domain family member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15089088 8777041 Mier3 MIER family member 3 gene DOID:630 genetic disease ISO RGD:1605562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777041 Mier3 MIER family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8777063 Myo18b myosin XVIIIB gene DOID:0060224 atrial fibrillation ISO RGD:1349934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8777063 Myo18b myosin XVIIIB gene DOID:0080592 Klippel-Feil syndrome 4 ISO RGD:1349934 D RGD:7240710 20191225 OMIM 8777063 Myo18b myosin XVIIIB gene DOID:0080592 Klippel-Feil syndrome 4 ISO RGD:1349934 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition PMID:16199547|PMID:17576681|PMID:25741868|PMID:25748484|PMID:26752647|PMID:27858739|PMID:28492532|PMID:31195167|PMID:31230720|PMID:32184166|PMID:32637634|PMID:33179433|PMID:9536098 8777063 Myo18b myosin XVIIIB gene DOID:0110271 cataract 23 ISO RGD:1349934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 8777063 Myo18b myosin XVIIIB gene DOID:0111406 Fraser syndrome 3 ISO RGD:1349934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 8777063 Myo18b myosin XVIIIB gene DOID:10426 Klippel-Feil syndrome ISO RGD:1349934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome PMID:25741868 8777063 Myo18b myosin XVIIIB gene DOID:630 genetic disease ISO RGD:1349934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8777063 Myo18b myosin XVIIIB gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1349934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 8777063 Myo18b myosin XVIIIB gene DOID:9003566 Mesothelioma ISO RGD:1349934 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17294804 8777063 Myo18b myosin XVIIIB gene DOID:9005172 Lung Neoplasms ISO RGD:1349934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0050770 polycystic liver disease ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0080322 polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20408813|PMID:20439752|PMID:20881056|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22114106|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24113780|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26150605|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27366664|PMID:27401137|PMID:27499327|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:29338003|PMID:29378535|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30586318|PMID:30639418|PMID:30820006|PMID:31056860|PMID:31317121|PMID:31488014|PMID:31514750|PMID:31589614|PMID:31740684|PMID:32332171|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:35778421|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0110859 polycystic kidney disease 2 ISO RGD:1353787 D RGD:7240710 20180418 OMIM 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0110859 polycystic kidney disease 2 ISO RGD:1353787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: PKD2-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 2 PMID:10405208|PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:17699277|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20408813|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:21719175|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24113780|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:25741894|PMID:25741902|PMID:26150605|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27366664|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30586318|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31056860|PMID:31317121|PMID:31488014|PMID:31514750|PMID:31589614|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34008892|PMID:34101167|PMID:35005812|PMID:35778421|PMID:8650545|PMID:9175744|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:0111002 Joubert syndrome 7 ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:19936001|PMID:25741868|PMID:28492532 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1353787 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:12842373|REF_RGD_ID:1580867 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:12215 oligohydramnios ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:1289 neurodegenerative disease ISO RGD:1353787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25013951 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:178 vascular disease ISO RGD:1353787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25013951 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:3021 acute kidney failure ISO RGD:1559992 D RGD:9068941 20200609 RGD protein:altered localization PMID:12089381|REF_RGD_ID:7175293 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:5679 retinal disease ISO RGD:1353787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25013951 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:630 genetic disease ISO RGD:1353787 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10411676|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11968093|PMID:12707387|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16540757|PMID:17100995|PMID:17576681|PMID:17582161|PMID:18837007|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22863349|PMID:23300259|PMID:23985799|PMID:25149526|PMID:25574838|PMID:25741868|PMID:26467025|PMID:26692149|PMID:27835667|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29529603|PMID:30333007|PMID:30820006|PMID:31317121|PMID:31740684|PMID:31948117|PMID:32332171|PMID:32457805|PMID:32816041|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33639313|PMID:34101167|PMID:35778421|PMID:9326320|PMID:9402976|PMID:9536098|PMID:9573526 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:8466 retinal degeneration ISO RGD:1353787 D RGD:9068941 20200609 RGD PMID:16943309|REF_RGD_ID:13524568 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20881056|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22863349|PMID:22995991|PMID:23300259|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30816285|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32384474|PMID:32457805|PMID:32970388|PMID:33095447|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33964006|PMID:34101167|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20439752|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31317121|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:10411676|PMID:10417277|PMID:10497221|PMID:10541293|PMID:10648666|PMID:10655555|PMID:10760080|PMID:10835625|PMID:11007674|PMID:11967008|PMID:11968093|PMID:12707387|PMID:12842373|PMID:14993477|PMID:15192819|PMID:15772804|PMID:15775720|PMID:16199547|PMID:16223735|PMID:16430766|PMID:16540757|PMID:17100995|PMID:17303584|PMID:17574468|PMID:17576681|PMID:17582161|PMID:18178578|PMID:18257781|PMID:18664456|PMID:18837007|PMID:19158373|PMID:19491093|PMID:19556541|PMID:19936001|PMID:20168298|PMID:20439752|PMID:20881056|PMID:20950398|PMID:21115670|PMID:21551026|PMID:22008521|PMID:22034641|PMID:22114106|PMID:22185115|PMID:22367170|PMID:22383692|PMID:22508176|PMID:22797899|PMID:22863349|PMID:22995991|PMID:23300259|PMID:23376035|PMID:24113780|PMID:24374109|PMID:24611717|PMID:24658975|PMID:25149526|PMID:25333066|PMID:25491204|PMID:25574838|PMID:25741868|PMID:26453610|PMID:26467025|PMID:26692149|PMID:26920127|PMID:26950445|PMID:27071085|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27884173|PMID:27894351|PMID:28356211|PMID:28492532|PMID:28522688|PMID:29321346|PMID:29338003|PMID:29378535|PMID:29520754|PMID:29529603|PMID:29633482|PMID:30333007|PMID:30369598|PMID:30586318|PMID:30639418|PMID:30816285|PMID:30820006|PMID:30989420|PMID:31056860|PMID:31317121|PMID:31589614|PMID:31740684|PMID:31948117|PMID:31979107|PMID:32332171|PMID:32384474|PMID:32457805|PMID:32816041|PMID:32970388|PMID:33095447|PMID:33168999|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33569422|PMID:33639313|PMID:33964006|PMID:34101167|PMID:35778421|PMID:8650545|PMID:9326320|PMID:9536098|PMID:9573526|PMID:9773786|PMID:9949210 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:898 autosomal dominant polycystic kidney disease onset ISO RGD:1353787 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:22863349|REF_RGD_ID:7175273 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:25741868 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1559992 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:12454224|REF_RGD_ID:1580868 8777115 Pkd2 polycystin 2, transient receptor potential cation channel gene DOID:9912 hydrocele ISO RGD:1353787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocele PMID:25741868 8777134 Crocc2 ciliary rootlet coiled-coil, rootletin family member 2 gene DOID:0080600 COVID-19 ISO RGD:10040878 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8777134 Crocc2 ciliary rootlet coiled-coil, rootletin family member 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:10040878 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8777141 Ptp4a2 protein tyrosine phosphatase 4A2 gene DOID:630 genetic disease ISO RGD:734245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777141 Ptp4a2 protein tyrosine phosphatase 4A2 gene DOID:9775 diastolic heart failure ISO RGD:734245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8777151 Tex29 testis expressed 29 gene DOID:2222 factor X deficiency ISO RGD:1353968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8777151 Tex29 testis expressed 29 gene DOID:630 genetic disease ISO RGD:1353968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0050746 mantle cell lymphoma ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17148679 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1353500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1353500 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:13515 tuberous sclerosis treatment ISO RGD:620259 D RGD:9068941 20200609 RGD PMID:12384518|REF_RGD_ID:1549429 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1353500 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:607 paraplegia ISO RGD:1353500 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:630 genetic disease ISO RGD:1353500 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9005372 Inflammation ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:620259 D RGD:9068941 20200609 RGD PMID:16439989|REF_RGD_ID:10401145 8777159 Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1353500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458359 8777166 Cabp4 calcium binding protein 4 gene DOID:0050439 Usher syndrome ISO RGD:1314493 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868|PMID:28492532 8777166 Cabp4 calcium binding protein 4 gene DOID:0050534 congenital stationary night blindness ISO RGD:1314493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:25741868|PMID:28492532 8777166 Cabp4 calcium binding protein 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1314493 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 8777166 Cabp4 calcium binding protein 4 gene DOID:0050630 Aland Island eye disease ISO RGD:1314493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:30718709 8777166 Cabp4 calcium binding protein 4 gene DOID:0050795 cone dystrophy ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25307992|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873 8777166 Cabp4 calcium binding protein 4 gene DOID:0080600 COVID-19 ISO RGD:1314493 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8777166 Cabp4 calcium binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1314493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8777166 Cabp4 calcium binding protein 4 gene DOID:13911 achromatopsia ISO RGD:1314493 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 8777166 Cabp4 calcium binding protein 4 gene DOID:630 genetic disease ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8777166 Cabp4 calcium binding protein 4 gene DOID:8501 fundus dystrophy ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25307992|PMID:25741868|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873|PMID:30718709 8777166 Cabp4 calcium binding protein 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1314493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8777166 Cabp4 calcium binding protein 4 gene DOID:9004066 Congenital Stationary Night Blindness 2B ISO RGD:1314493 D RGD:7240710 20180130 OMIM 8777166 Cabp4 calcium binding protein 4 gene DOID:9004066 Congenital Stationary Night Blindness 2B ISO RGD:1314493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive PMID:16960802|PMID:19074807|PMID:20157620|PMID:23099293|PMID:23714322|PMID:25258313|PMID:25307992|PMID:25741868|PMID:26234941|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 8777166 Cabp4 calcium binding protein 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1314493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8777181 Hm13 histocompatibility minor 13 gene DOID:630 genetic disease ISO RGD:1319013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777181 Hm13 histocompatibility minor 13 gene DOID:9002834 Herpesviridae Infections treatment ISO RGD:1319014 D RGD:9068941 20210115 RGD PMID:24768597|PMID:31511378|REF_RGD_ID:40903051|REF_RGD_ID:40903053 8777181 Hm13 histocompatibility minor 13 gene DOID:9452 steatotic liver disease ISO RGD:1319014 D RGD:9068941 20210115 RGD associated with hepatitis PMID:27142248|REF_RGD_ID:40924634 8777213 Tlk1 tousled like kinase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8777213 Tlk1 tousled like kinase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1321237 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8777213 Tlk1 tousled like kinase 1 gene DOID:630 genetic disease ISO RGD:1321237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777213 Tlk1 tousled like kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321237 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8777213 Tlk1 tousled like kinase 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1321237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17481512 8777237 Prcd photoreceptor disc component gene DOID:0110405 retinitis pigmentosa 36 ISO RGD:1603415 D RGD:7240710 20180130 OMIM 8777237 Prcd photoreceptor disc component gene DOID:0110405 retinitis pigmentosa 36 ISO RGD:1603415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 36 PMID:16938425|PMID:20507925|PMID:23661369|PMID:23805042|PMID:24992209|PMID:25741868|PMID:28181551|PMID:28492532|PMID:29785639 8777237 Prcd photoreceptor disc component gene DOID:10584 retinitis pigmentosa ISO RGD:1603415 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16938425|PMID:17576681|PMID:20507925|PMID:23661369|PMID:23805042|PMID:25741868|PMID:26806561|PMID:28181551|PMID:28492532|PMID:29785639|PMID:32036094|PMID:36909829|PMID:9536098 8777237 Prcd photoreceptor disc component gene DOID:630 genetic disease ISO RGD:1603415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8777237 Prcd photoreceptor disc component gene DOID:8501 fundus dystrophy ISO RGD:1603415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16938425|PMID:20507925|PMID:23805042|PMID:25741868|PMID:28181551|PMID:28492532 8777261 Gk2 glycerol kinase 2 gene DOID:630 genetic disease ISO RGD:1353777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777274 Sh3bp2 SH3 domain binding protein 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1321583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8777274 Sh3bp2 SH3 domain binding protein 2 gene DOID:1856 cherubism ISO RGD:1321583 D RGD:7240710 20180130 OMIM 8777274 Sh3bp2 SH3 domain binding protein 2 gene DOID:1856 cherubism ISO RGD:1321583 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:11381256|PMID:12900899|PMID:14577811|PMID:15507112|PMID:16199547|PMID:16786512|PMID:17321449|PMID:17576681|PMID:18596838|PMID:19017279|PMID:19576004|PMID:20002873|PMID:21045962|PMID:21794028|PMID:22153076|PMID:22153077|PMID:22795151|PMID:23298620|PMID:24033266|PMID:24382142|PMID:24608212|PMID:24916406|PMID:25144740|PMID:25741868|PMID:26064398|PMID:27272835|PMID:28492532|PMID:28644570|PMID:28904407|PMID:30236129|PMID:34573280|PMID:9536098 8777274 Sh3bp2 SH3 domain binding protein 2 gene DOID:630 genetic disease ISO RGD:1321583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8777303 Dach1 dachshund family transcription factor 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1606339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8777303 Dach1 dachshund family transcription factor 1 gene DOID:630 genetic disease ISO RGD:1606339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777320 Mcemp1 mast cell expressed membrane protein 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1604975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8777320 Mcemp1 mast cell expressed membrane protein 1 gene DOID:0080600 COVID-19 ISO RGD:1604975 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8777320 Mcemp1 mast cell expressed membrane protein 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1604975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8777320 Mcemp1 mast cell expressed membrane protein 1 gene DOID:630 genetic disease ISO RGD:1604975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777344 Sqle squalene epoxidase gene DOID:10211 cholelithiasis ISO RGD:736676 D RGD:9068941 20200609 RGD PMID:14684588|REF_RGD_ID:1581398 8777344 Sqle squalene epoxidase gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:736675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8777344 Sqle squalene epoxidase gene DOID:630 genetic disease ISO RGD:736675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777344 Sqle squalene epoxidase gene DOID:9000808 Hypercholesterolemia ISO RGD:736676 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25168180|REF_RGD_ID:13782271 8777344 Sqle squalene epoxidase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8777344 Sqle squalene epoxidase gene DOID:9970 obesity ISO RGD:736676 D RGD:9068941 20200609 RGD PMID:15556298|REF_RGD_ID:1581399 8777360 Atp6v1g3 ATPase H+ transporting V1 subunit G3 gene DOID:1540 parathyroid carcinoma ISO RGD:1312186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8777360 Atp6v1g3 ATPase H+ transporting V1 subunit G3 gene DOID:630 genetic disease ISO RGD:1312186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777360 Atp6v1g3 ATPase H+ transporting V1 subunit G3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8777367 Cebpd CCAAT enhancer binding protein delta gene DOID:5394 prolactinoma ISO RGD:736554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21980073 8777367 Cebpd CCAAT enhancer binding protein delta gene DOID:630 genetic disease ISO RGD:736554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777367 Cebpd CCAAT enhancer binding protein delta gene DOID:684 hepatocellular carcinoma ISO RGD:736554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 8777367 Cebpd CCAAT enhancer binding protein delta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8777367 Cebpd CCAAT enhancer binding protein delta gene DOID:9004484 Sepsis ISO RGD:2328 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:11792653|REF_RGD_ID:625506 8777367 Cebpd CCAAT enhancer binding protein delta gene DOID:9007102 Myocardial Ischemia ISO RGD:736554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8777367 Cebpd CCAAT enhancer binding protein delta gene DOID:9119 acute myeloid leukemia ISO RGD:736554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17234736 8777383 Gfra3 GDNF family receptor alpha 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:731370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8777383 Gfra3 GDNF family receptor alpha 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8777383 Gfra3 GDNF family receptor alpha 3 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:731370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8777383 Gfra3 GDNF family receptor alpha 3 gene DOID:10283 prostate cancer ISO RGD:731370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8777383 Gfra3 GDNF family receptor alpha 3 gene DOID:11446 sciatic neuropathy ISO RGD:620502 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve PMID:10852218|REF_RGD_ID:6218977 8777383 Gfra3 GDNF family receptor alpha 3 gene DOID:630 genetic disease ISO RGD:731370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777383 Gfra3 GDNF family receptor alpha 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8777383 Gfra3 GDNF family receptor alpha 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731370 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8777407 Sf3b5 splicing factor 3b subunit 5 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1345762 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 8777419 Cd300lg CD300 molecule like family member g gene DOID:630 genetic disease ISO RGD:1601720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:0050847 sleep apnea ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep apnea syndrome PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:0050952 spastic ataxia ISO RGD:1603658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1603658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:0060612 abdominal obesity-metabolic syndrome 3 ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 PMID:25741868|PMID:29696776|PMID:33644933 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:0070055 Xia-Gibbs syndrome ISO RGD:1603658 D RGD:7240710 20180130 OMIM 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:0070055 Xia-Gibbs syndrome ISO RGD:1603658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | ClinVar Annotator: match by term: Xia-Gibbs syndrome PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868|PMID:25741869|PMID:27148574|PMID:28135719|PMID:28492532|PMID:29230160|PMID:29696776|PMID:30152016|PMID:30858058|PMID:31474318|PMID:33372375|PMID:33644933|PMID:35716097|PMID:4067559 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:1059 intellectual disability ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868|PMID:28492532 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:630 genetic disease ISO RGD:1603658 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24791903|PMID:25741868|PMID:27148574|PMID:28135719|PMID:28492532|PMID:28518168|PMID:29696776|PMID:30152016|PMID:30729726|PMID:32461654|PMID:33644933|PMID:34395220|PMID:35716097 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868 8777430 Ahdc1 AT-hook DNA binding motif containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1603658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23806086|PMID:24088041|PMID:24791903|PMID:25741868 8777466 Cimap1b ciliary microtubule associated protein 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8777466 Cimap1b ciliary microtubule associated protein 1B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1606628 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8777466 Cimap1b ciliary microtubule associated protein 1B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8777466 Cimap1b ciliary microtubule associated protein 1B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8777466 Cimap1b ciliary microtubule associated protein 1B gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1606628 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 8777466 Cimap1b ciliary microtubule associated protein 1B gene DOID:10581 metachromatic leukodystrophy ISO RGD:1606628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8777466 Cimap1b ciliary microtubule associated protein 1B gene DOID:1059 intellectual disability ISO RGD:1606628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8777466 Cimap1b ciliary microtubule associated protein 1B gene DOID:11612 polycystic ovary syndrome ISO RGD:1606628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8777466 Cimap1b ciliary microtubule associated protein 1B gene DOID:630 genetic disease ISO RGD:1606628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777483 Mrc2 mannose receptor C type 2 gene DOID:305 carcinoma ISO RGD:1320297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8777483 Mrc2 mannose receptor C type 2 gene DOID:630 genetic disease ISO RGD:1320297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777483 Mrc2 mannose receptor C type 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1320297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8777483 Mrc2 mannose receptor C type 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1320297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8777483 Mrc2 mannose receptor C type 2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1320297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 PMID:25741868 8777516 Bin1 bridging integrator 1 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:732350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 8777516 Bin1 bridging integrator 1 gene DOID:0111216 autosomal recessive centronuclear myopathy ISO RGD:12106519 D RGD:9068941 20210604 OMIA Centronuclear myopathy 2, BIN1-related PMID:16674719|PMID:17017655|PMID:18271825|PMID:19135395|PMID:23754947|PMID:3680647 8777516 Bin1 bridging integrator 1 gene DOID:0111216 autosomal recessive centronuclear myopathy ISO RGD:732350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8777516 Bin1 bridging integrator 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:732350 D RGD:7240710 20180130 OMIM 8777516 Bin1 bridging integrator 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:732350 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:16199547|PMID:17576681|PMID:17676042|PMID:18414213|PMID:20142620|PMID:22912834|PMID:22960267|PMID:24033266|PMID:24755653|PMID:25260562|PMID:25262827|PMID:25640679|PMID:25741868|PMID:26101835|PMID:26467025|PMID:28492532|PMID:28687524|PMID:29103045|PMID:29950440|PMID:30293987|PMID:31127772|PMID:36133075|PMID:9536098 8777516 Bin1 bridging integrator 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:732350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8777516 Bin1 bridging integrator 1 gene DOID:10652 Alzheimer's disease ISO RGD:732350 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:21460841|PMID:33589840 8777516 Bin1 bridging integrator 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732350 D RGD:9068941 20200609 RGD PMID:12532338|REF_RGD_ID:1580047 8777516 Bin1 bridging integrator 1 gene DOID:3459 breast carcinoma ISO RGD:732350 D RGD:9068941 20200609 RGD PMID:10652430|REF_RGD_ID:1580043 8777516 Bin1 bridging integrator 1 gene DOID:422 congenital structural myopathy ISO RGD:732350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676042 8777516 Bin1 bridging integrator 1 gene DOID:630 genetic disease ISO RGD:732350 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8777516 Bin1 bridging integrator 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:732350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 8777558 Akap14 A-kinase anchoring protein 14 gene DOID:0050437 Danon disease ISO RGD:1353822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 8777558 Akap14 A-kinase anchoring protein 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8777558 Akap14 A-kinase anchoring protein 14 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1353822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8777558 Akap14 A-kinase anchoring protein 14 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1353822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8777558 Akap14 A-kinase anchoring protein 14 gene DOID:12849 autistic disorder ISO RGD:1353822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8777558 Akap14 A-kinase anchoring protein 14 gene DOID:630 genetic disease ISO RGD:1353822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777568 CUNH3orf20 chromosome unknown C3orf20 homolog gene DOID:0060417 3p deletion syndrome ISO RGD:1343380 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8777568 CUNH3orf20 chromosome unknown C3orf20 homolog gene DOID:630 genetic disease ISO RGD:1343380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777594 Six3 SIX homeobox 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8777594 Six3 SIX homeobox 3 gene DOID:0110872 holoprosencephaly 2 ISO RGD:733474 D RGD:7240710 20180130 OMIM 8777594 Six3 SIX homeobox 3 gene DOID:0110872 holoprosencephaly 2 ISO RGD:733474 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:10369266|PMID:10923031|PMID:11039582|PMID:14711609|PMID:15221788|PMID:15523651|PMID:17001667|PMID:17584896|PMID:18791198|PMID:18989625|PMID:19346217|PMID:19353631|PMID:20157829|PMID:20531442|PMID:25741868|PMID:26080100|PMID:26467025|PMID:28492532|PMID:32796691|PMID:34008892|PMID:35951005 8777594 Six3 SIX homeobox 3 gene DOID:0111380 solitary median maxillary central incisor ISO RGD:733474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome PMID:18791198|PMID:19346217|PMID:20157829|PMID:26080100|PMID:26467025|PMID:28492532 8777594 Six3 SIX homeobox 3 gene DOID:3883 Lynch syndrome ISO RGD:733474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8777594 Six3 SIX homeobox 3 gene DOID:4621 holoprosencephaly ISO RGD:733474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10369266 8777594 Six3 SIX homeobox 3 gene DOID:4621 holoprosencephaly ISO RGD:733474 D RGD:9068941 20200609 RGD PMID:10369266|PMID:15523651|REF_RGD_ID:1599335|REF_RGD_ID:1599336 8777594 Six3 SIX homeobox 3 gene DOID:630 genetic disease ISO RGD:733474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8777594 Six3 SIX homeobox 3 gene DOID:9006637 Schizencephaly ISO RGD:733474 D RGD:7240710 20190327 OMIM 8777594 Six3 SIX homeobox 3 gene DOID:9006637 Schizencephaly ISO RGD:733474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:18791198|PMID:19346217|PMID:20157829|PMID:25741868|PMID:26080100|PMID:26467025|PMID:28492532 8777594 Six3 SIX homeobox 3 gene DOID:9007188 Liver Neoplasms ISO RGD:733474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8777602 Ivns1abp influenza virus NS1A binding protein gene DOID:0112005 immunodeficiency 70 ISO RGD:1314824 D RGD:7240710 20200812 OMIM 8777602 Ivns1abp influenza virus NS1A binding protein gene DOID:0112005 immunodeficiency 70 ISO RGD:1314824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 70 PMID:32499645 8777602 Ivns1abp influenza virus NS1A binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1314824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8777602 Ivns1abp influenza virus NS1A binding protein gene DOID:630 genetic disease ISO RGD:1314824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777602 Ivns1abp influenza virus NS1A binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8777602 Ivns1abp influenza virus NS1A binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8777629 Clec3b C-type lectin domain family 3 member B gene DOID:0070441 retinal macular dystrophy 4 ISO RGD:1602501 D RGD:7240710 20220810 OMIM 8777629 Clec3b C-type lectin domain family 3 member B gene DOID:0070441 retinal macular dystrophy 4 ISO RGD:1602501 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Macular dystrophy, retinal, 4 PMID:35331648 8777629 Clec3b C-type lectin domain family 3 member B gene DOID:13300 Scheuermann's disease ISO RGD:1553639 D RGD:9068941 20220825 MouseDO OMIM:181440 8777629 Clec3b C-type lectin domain family 3 member B gene DOID:630 genetic disease ISO RGD:1602501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777629 Clec3b C-type lectin domain family 3 member B gene DOID:8398 osteoarthritis disease_progression ISO RGD:1602501 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0050127 sinusitis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0050563 nonsyndromic deafness ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive PMID:25941349 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:20848408|REF_RGD_ID:8548612 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0050866 oral squamous cell carcinoma ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression, altered expression:mouth mucosa: PMID:20662906|REF_RGD_ID:8548617 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0060041 autism spectrum disorder ISO RGD:10894 D RGD:9068941 20220825 MouseDO 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0060041 autism spectrum disorder ISO RGD:70824 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0070322 childhood hepatocellular carcinoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pediatric hepatocellular carcinoma PMID:17483355|PMID:9927037 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:10894 D RGD:9068941 20200609 RGD PMID:24845607|REF_RGD_ID:14694829 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:70824 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA PMID:25741868|PMID:28492532 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0110539 autosomal recessive nonsyndromic deafness 97 ISO RGD:70824 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 97 PMID:12920089|PMID:19318576|PMID:19723643|PMID:20139696|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25741868|PMID:25941349|PMID:26467025|PMID:26700204|PMID:26887047|PMID:27696107|PMID:28259294|PMID:28492532|PMID:28873162|PMID:29219214|PMID:29641532|PMID:29684080|PMID:30093976|PMID:32091409|PMID:33606809|PMID:35264596 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0110539 autosomal recessive nonsyndromic deafness 97 susceptibility ISO RGD:70824 D RGD:7240710 20240320 OMIM 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0111596 distal arthrogryposis type 1 ISO RGD:70824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:30777867 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:70824 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:30777867 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:10286 prostate carcinoma disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:primary tumor, metastatic carcinoma (human) PMID:7639332|REF_RGD_ID:2317554 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1059 intellectual disability ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:22703879|PMID:25741868|PMID:28492532|PMID:9140397 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:10894 D RGD:9068941 20220825 MouseDO OMIM:137580 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1115 sarcoma ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:7693339|REF_RGD_ID:2317532 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:11714 gestational diabetes ISO RGD:10894 D RGD:9068941 20220825 MouseDO 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:12236 primary biliary cholangitis severity ISO RGD:10894 D RGD:9068941 20200609 RGD PMID:19208365|REF_RGD_ID:14694826 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 9 PMID:17053076 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:70824 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:10417759|PMID:10433944|PMID:10498872|PMID:1104268|PMID:11750879|PMID:11927612|PMID:12460923|PMID:14559814|PMID:15371818|PMID:16189274|PMID:17483355|PMID:18564920|PMID:20670955|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28619094|PMID:29202410|PMID:32934698|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9826708|PMID:9927037 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1561 cognitive disorder ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20080979 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1612 breast cancer ISO RGD:10894 D RGD:9068941 20220825 MouseDO OMIM:114480 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22948846 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1790 malignant mesothelioma ISO RGD:70824 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1793 pancreatic cancer ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:9211490|REF_RGD_ID:2317613 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1793 pancreatic cancer severity ISO RGD:70824 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:15448002|REF_RGD_ID:2317235 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:2349 arteriosclerosis ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:femoral artery, atherosclerotic lesions (human) PMID:17405187|REF_RGD_ID:2317493 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:70824 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:28873162|PMID:35264596 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:299 adenocarcinoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20934974|PMID:22042947 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3008 invasive ductal carcinoma severity ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:10590366|REF_RGD_ID:2317607 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3021 acute kidney failure ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:renal parenchyma (rat) PMID:17940345|REF_RGD_ID:2317469 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:305 carcinoma ISO RGD:70824 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Carcinoma PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:1104268|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12460923|PMID:14559814|PMID:15371818|PMID:15485908|PMID:17483355|PMID:21400509|PMID:21642981|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23610116|PMID:23806086|PMID:24088041|PMID:24121490|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:29202410|PMID:32934698|PMID:34882875|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9826708 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3068 glioblastoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22162573 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3069 malignant astrocytoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11223164 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3070 high grade glioma ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:brain, glioma (rat) PMID:18194445|REF_RGD_ID:2317467 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3347 osteosarcoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22235915 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3459 breast carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:21774103|PMID:21970370|PMID:25741868|PMID:28259294|PMID:28492532|PMID:29641532 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3587 pancreatic ductal carcinoma ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct (human) PMID:7866999|REF_RGD_ID:2317530 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3827 congenital diaphragmatic hernia ISO RGD:70824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:1104268|PMID:14559814|PMID:17483355|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24088041|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:32934698 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3905 lung carcinoma ISO RGD:70824 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:26637977|PMID:26892698 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623265|PMID:21815704|PMID:22787409|PMID:24688052 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD PMID:24092988|REF_RGD_ID:13434906 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33588785|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33588785|PMID:33606809|PMID:34646395|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma with paraneoplastic erythrocytosis | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28961830|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:70824 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26700204|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28961830|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29219214|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32770124|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:35264596|PMID:35441217|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4451 renal carcinoma ISO RGD:70824 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Renal carcinoma PMID:10327054|PMID:10433944|PMID:10498872|PMID:11354004|PMID:11750879|PMID:15485908|PMID:17483355|PMID:18829470|PMID:21400509|PMID:21642981|PMID:23213094|PMID:23610116|PMID:24121490|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29202410|PMID:34882875|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9563489|PMID:9731534|PMID:9826708 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29360161|PMID:29641532|PMID:30093976|PMID:30530636|PMID:32934698|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:70824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16434318|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32934698|PMID:33255238|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4465 papillary renal cell carcinoma susceptibility ISO RGD:70824 D RGD:7240710 20240320 OMIM 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4552 large cell carcinoma severity ISO RGD:70824 D RGD:9068941 20200609 RGD PMID:20019837|REF_RGD_ID:2317441 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:liver, biliary epithelium (rat) PMID:14656942|REF_RGD_ID:2317601 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver, carcinoma (human) PMID:16818635|REF_RGD_ID:2317578 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4977 lymphedema ISO RGD:70824 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Lymphoedema PMID:18564920|PMID:24339735|PMID:24728327|PMID:25637381|PMID:25741868|PMID:28492532|PMID:30530636 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:4989 pancreatitis ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (rat) PMID:11737224|REF_RGD_ID:2317606 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:5419 schizophrenia ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20080979 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:5577 gastrinoma severity ISO RGD:70824 D RGD:9068941 20200609 RGD associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) PMID:12114431|REF_RGD_ID:2317605 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:70824 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:21774103|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28259294|PMID:28492532|PMID:29641532 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma severity ISO RGD:70824 D RGD:9068941 20220630 RGD protein:increased expression:liver (human) PMID:29303510|REF_RGD_ID:152995524 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:70824 D RGD:7240710 20240320 OMIM 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:687 hepatoblastoma ISO RGD:70824 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:27666373|PMID:28492532 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:769 neuroblastoma ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:824 periodontitis ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:gingival pocket (rat) PMID:16827730|REF_RGD_ID:2317520 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:8567 Hodgkin's lymphoma ISO RGD:70824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:1104268|PMID:14559814|PMID:17483355|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24088041|PMID:24728327|PMID:25605252|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26467025|PMID:28492532|PMID:32934698 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000011 Gallbladder Neoplasms severity ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder (human) PMID:19956499|REF_RGD_ID:2317582 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord (rat) PMID:17549731|REF_RGD_ID:2317487 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000117 Esophageal Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22042947 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22042947|PMID:22729845 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000722 Animal Hepatitis ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:8781331|REF_RGD_ID:2317559 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20080979|PMID:21225626 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD associated with Squamous Cell Carcinoma of the Tongue; PMID:22704061|REF_RGD_ID:8548616 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9001472 Nasal Polyps ISO RGD:70824 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16982975|REF_RGD_ID:8548613 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3082 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:16958060|REF_RGD_ID:2317516 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956651 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002127 Osteofibrous Dysplasia ISO RGD:70824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum PMID:11042681|PMID:1270474|PMID:12920089|PMID:14559814|PMID:15592501|PMID:16203897|PMID:21774103|PMID:21970370|PMID:22703879|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26637977|PMID:28259294|PMID:28492532|PMID:28975465|PMID:29641532|PMID:32830346|PMID:9234973 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002127 Osteofibrous Dysplasia susceptibility ISO RGD:70824 D RGD:7240710 20240320 OMIM 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002242 Distal Arthrogryposis Type 11 ISO RGD:70824 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 11 PMID:25741868|PMID:28492532|PMID:30777867 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002242 Distal Arthrogryposis Type 11 susceptibility ISO RGD:70824 D RGD:7240710 20240320 OMIM 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:70824 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:9140397|REF_RGD_ID:1600122 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20661229 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9002936 Bile Duct Neoplasms ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:intrahepatic bile duct (human) PMID:15892172|REF_RGD_ID:2317585 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9003936 Cardiomegaly ISO RGD:3082 D RGD:9068941 20200609 RGD protein:increased expression:ventricle (rat) PMID:10489112|REF_RGD_ID:2317547 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9004009 Reperfusion Injury ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:17113948|REF_RGD_ID:2317505 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9004217 Nerve Sheath Neoplasms disease_progression ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:9308731|REF_RGD_ID:2317564 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9004590 Acute Liver Failure ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17009398|REF_RGD_ID:2317515 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9005172 Lung Neoplasms ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20934974 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9005369 Hepatomegaly ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, tubule, epithelium (rat) PMID:8997394|REF_RGD_ID:2317555 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9006205 Animal Disease Models ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9006599 Hypertriglyceridemia ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:70824 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25605252|PMID:25637381|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32770124|PMID:32934698|PMID:33255238|PMID:34882875|PMID:35264596|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21904579|PMID:21970370|PMID:22703879|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24728327|PMID:25394175|PMID:25605252|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26718692|PMID:26887047|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28166811|PMID:28259294|PMID:28294470|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:29324814|PMID:29641532|PMID:30093976|PMID:32934698|PMID:33588785|PMID:9140397|PMID:9326629|PMID:9536098 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10327054|PMID:10417759|PMID:10433944|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:29084058|PMID:29202410|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70824 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10327054|PMID:10417759|PMID:10433944|PMID:10498872|PMID:1104268|PMID:11042681|PMID:11354004|PMID:11750879|PMID:11927612|PMID:12920089|PMID:14559814|PMID:15371818|PMID:15485908|PMID:15592501|PMID:15735036|PMID:16189274|PMID:16199547|PMID:16434318|PMID:17088437|PMID:17483355|PMID:17576681|PMID:18564920|PMID:19318576|PMID:19459657|PMID:19723643|PMID:20126411|PMID:20139696|PMID:20670955|PMID:20949619|PMID:21400509|PMID:21642981|PMID:21774103|PMID:21904579|PMID:21970370|PMID:22703879|PMID:22717761|PMID:23213094|PMID:23610116|PMID:23806086|PMID:24033266|PMID:24061647|PMID:24088041|PMID:24121490|PMID:24319509|PMID:24339735|PMID:24658158|PMID:24728327|PMID:25157968|PMID:25394175|PMID:25605252|PMID:25636233|PMID:25637381|PMID:25736269|PMID:25741868|PMID:25859546|PMID:26173098|PMID:26467025|PMID:26580448|PMID:26637977|PMID:26700204|PMID:26718692|PMID:26887047|PMID:26892698|PMID:27153395|PMID:27666373|PMID:27696107|PMID:28259294|PMID:28294470|PMID:28459198|PMID:28476232|PMID:28492532|PMID:28603720|PMID:28619094|PMID:28873162|PMID:28975465|PMID:29084058|PMID:29202410|PMID:29324814|PMID:29360161|PMID:29641532|PMID:29684080|PMID:29978187|PMID:30093976|PMID:30530636|PMID:32091409|PMID:32770124|PMID:32830346|PMID:32934698|PMID:33255238|PMID:33588785|PMID:33606809|PMID:34646395|PMID:34882875|PMID:35264596|PMID:35441217|PMID:9024657|PMID:9140397|PMID:9326629|PMID:9536098|PMID:9563489|PMID:9731534|PMID:9826708 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9007702 Carcinogenesis ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9007715 Endometrial Neoplasms ISO RGD:3082 D RGD:9068941 20200609 RGD DNA:amplification PMID:11719459|REF_RGD_ID:70557 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9008105 Cystic, Mucinous, and Serous Neoplasms ISO RGD:70824 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, liver, epithelium (human) PMID:18208800|REF_RGD_ID:2317574 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:70824 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon mucosa (human) PMID:9815967|REF_RGD_ID:2317534 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9008510 Chronic Hepatitis ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9008510 Chronic Hepatitis severity ISO RGD:70824 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8778194|REF_RGD_ID:14694827 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:70824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683780 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:916 liver benign neoplasm onset ISO RGD:3082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neoplastic liver (rat) PMID:11956651|REF_RGD_ID:2317546 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:70824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9452 steatotic liver disease ISO RGD:70824 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 8777648 Met MET proto-oncogene, receptor tyrosine kinase gene DOID:9538 multiple myeloma ISO RGD:70824 D RGD:9068941 20200609 RGD PMID:11830493|REF_RGD_ID:2317526 8777679 Insrr insulin receptor related receptor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8777679 Insrr insulin receptor related receptor gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary 8777679 Insrr insulin receptor related receptor gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV 8777679 Insrr insulin receptor related receptor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8777679 Insrr insulin receptor related receptor gene DOID:0111940 immunodeficiency 42 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8777679 Insrr insulin receptor related receptor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8777679 Insrr insulin receptor related receptor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8777679 Insrr insulin receptor related receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8777679 Insrr insulin receptor related receptor gene DOID:5812 MHC class II deficiency ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8777679 Insrr insulin receptor related receptor gene DOID:630 genetic disease ISO RGD:1346961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777679 Insrr insulin receptor related receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8777715 Cfap43 cilia and flagella associated protein 43 gene DOID:0070170 spermatogenic failure 19 ISO RGD:1350133 D RGD:7240710 20190315 OMIM 8777715 Cfap43 cilia and flagella associated protein 43 gene DOID:0070170 spermatogenic failure 19 ISO RGD:1350133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 19 PMID:25741868|PMID:28552195|PMID:29277146|PMID:29449551 8777715 Cfap43 cilia and flagella associated protein 43 gene DOID:10283 prostate cancer ISO RGD:1350133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8777715 Cfap43 cilia and flagella associated protein 43 gene DOID:1572 normal pressure hydrocephalus ISO RGD:1350133 D RGD:7240710 20200226 OMIM 8777715 Cfap43 cilia and flagella associated protein 43 gene DOID:1572 normal pressure hydrocephalus ISO RGD:1350133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Normal pressure hydrocephalus PMID:25741868|PMID:29449551|PMID:31004071 8777715 Cfap43 cilia and flagella associated protein 43 gene DOID:630 genetic disease ISO RGD:1350133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8777765 Kbtbd8 kelch repeat and BTB domain containing 8 gene DOID:630 genetic disease ISO RGD:1606999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777776 Rnf103 ring finger protein 103 gene DOID:1596 depressive disorder ISO RGD:620586 D RGD:9068941 20200609 RGD PMID:11071867|REF_RGD_ID:634523 8777776 Rnf103 ring finger protein 103 gene DOID:630 genetic disease ISO RGD:1349364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777776 Rnf103 ring finger protein 103 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8777776 Rnf103 ring finger protein 103 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1349364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 8777792 Trerf1 transcriptional regulating factor 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1316196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8777792 Trerf1 transcriptional regulating factor 1 gene DOID:630 genetic disease ISO RGD:1316196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777792 Trerf1 transcriptional regulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316196 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 8777792 Trerf1 transcriptional regulating factor 1 gene DOID:905 Zellweger syndrome ISO RGD:1316196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8777817 Ngdn neuroguidin gene DOID:0060439 lysinuric protein intolerance ISO RGD:1320980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8777817 Ngdn neuroguidin gene DOID:630 genetic disease ISO RGD:1320980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777817 Ngdn neuroguidin gene DOID:9000265 Specific Granule Deficiency ISO RGD:1320980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8777817 Ngdn neuroguidin gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320980 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8777832 Cfap70 cilia and flagella associated protein 70 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1316852 D RGD:9068941 20240229 MouseDO 8777832 Cfap70 cilia and flagella associated protein 70 gene DOID:0111912 spermatogenic failure 41 ISO RGD:1316851 D RGD:7240710 20191211 OMIM 8777832 Cfap70 cilia and flagella associated protein 70 gene DOID:0111912 spermatogenic failure 41 ISO RGD:1316851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 41 PMID:31621862 8777832 Cfap70 cilia and flagella associated protein 70 gene DOID:630 genetic disease ISO RGD:1316851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777879 Qrfpr pyroglutamylated RFamide peptide receptor gene DOID:0080010 bone structure disease ISO RGD:1332510 D RGD:9068941 20220825 MouseDO 8777879 Qrfpr pyroglutamylated RFamide peptide receptor gene DOID:630 genetic disease ISO RGD:1351393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777879 Qrfpr pyroglutamylated RFamide peptide receptor gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1351393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8777879 Qrfpr pyroglutamylated RFamide peptide receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8777895 Pitx2 paired like homeodomain 2 gene DOID:0050647 Arts syndrome ISO RGD:731390 D RGD:9068941 20200609 RGD DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) PMID:17701896|REF_RGD_ID:12910562 8777895 Pitx2 paired like homeodomain 2 gene DOID:0050786 iridogoniodysgenesis syndrome ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome PMID:25741868|PMID:28492532 8777895 Pitx2 paired like homeodomain 2 gene DOID:0060224 atrial fibrillation ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8777895 Pitx2 paired like homeodomain 2 gene DOID:0060648 anterior segment dysgenesis ISO RGD:731390 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:15591271|PMID:22569110|PMID:25741868|PMID:29664915|PMID:32499604|PMID:35882526|PMID:7581385|PMID:9437321 8777895 Pitx2 paired like homeodomain 2 gene DOID:0060673 Peters anomaly ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 8777895 Pitx2 paired like homeodomain 2 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 8777895 Pitx2 paired like homeodomain 2 gene DOID:0080609 anterior segment dysgenesis 4 ISO RGD:731390 D RGD:7240710 20180130 OMIM 8777895 Pitx2 paired like homeodomain 2 gene DOID:0080609 anterior segment dysgenesis 4 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant PMID:25741868|PMID:28492532|PMID:32499604|PMID:7581385|PMID:8942889|PMID:9437321|PMID:9618168 8777895 Pitx2 paired like homeodomain 2 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 8777895 Pitx2 paired like homeodomain 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:731390 D RGD:7240710 20180130 OMIM 8777895 Pitx2 paired like homeodomain 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:731390 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:10051017|PMID:10490637|PMID:11301317|PMID:11487566|PMID:12130547|PMID:12381896|PMID:12612071|PMID:15378534|PMID:15591271|PMID:15728254|PMID:15895993|PMID:16389592|PMID:16498627|PMID:16936096|PMID:17167399|PMID:17576681|PMID:18045789|PMID:18723525|PMID:19052653|PMID:19218601|PMID:19513095|PMID:20881294|PMID:22224469|PMID:22569110|PMID:24604414|PMID:25741868|PMID:26220699|PMID:28492532|PMID:28611552|PMID:28730073|PMID:29100920|PMID:29506241|PMID:29664915|PMID:30457409|PMID:31185933|PMID:31529555|PMID:32499604|PMID:33304895|PMID:33492563|PMID:35882526|PMID:8944018|PMID:9536098|PMID:9685346 8777895 Pitx2 paired like homeodomain 2 gene DOID:0111548 ring dermoid of cornea ISO RGD:731390 D RGD:7240710 20180130 OMIM 8777895 Pitx2 paired like homeodomain 2 gene DOID:0111548 ring dermoid of cornea ISO RGD:731390 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Ring dermoid of cornea PMID:15378534|PMID:15591271|PMID:22569110|PMID:25741868|PMID:26220699|PMID:28492532|PMID:29664915|PMID:32499604|PMID:35882526 8777895 Pitx2 paired like homeodomain 2 gene DOID:10283 prostate cancer ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8777895 Pitx2 paired like homeodomain 2 gene DOID:1459 hypothyroidism ISO RGD:3331 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ovary, granulosa cell PMID:17982271|REF_RGD_ID:5131997 8777895 Pitx2 paired like homeodomain 2 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome | ClinVar Annotator: match by term: Rieger anomaly PMID:25741868 8777895 Pitx2 paired like homeodomain 2 gene DOID:1681 heart septal defect ISO RGD:731391 D RGD:9068941 20200609 RGD PMID:23361844|REF_RGD_ID:12910561 8777895 Pitx2 paired like homeodomain 2 gene DOID:1682 congenital heart disease ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10499585 8777895 Pitx2 paired like homeodomain 2 gene DOID:1686 glaucoma ISO RGD:731391 D RGD:9068941 20220825 MouseDO 8777895 Pitx2 paired like homeodomain 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8777895 Pitx2 paired like homeodomain 2 gene DOID:3910 lung adenocarcinoma ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8777895 Pitx2 paired like homeodomain 2 gene DOID:630 genetic disease ISO RGD:731390 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15591271|PMID:15895993|PMID:22569110|PMID:25741868|PMID:28492532|PMID:29664915|PMID:32499604|PMID:35882526|PMID:8944018 8777895 Pitx2 paired like homeodomain 2 gene DOID:674 cleft palate ISO RGD:731391 D RGD:9068941 20200609 RGD PMID:12975342|REF_RGD_ID:12910559 8777895 Pitx2 paired like homeodomain 2 gene DOID:83 cataract ISO RGD:731390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:15378534|PMID:25741868|PMID:26220699|PMID:28166811|PMID:28492532 8777895 Pitx2 paired like homeodomain 2 gene DOID:83 cataract ISO RGD:731390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:15378534|PMID:25741868|PMID:26220699|PMID:28492532 8777895 Pitx2 paired like homeodomain 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:3331 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20926632|REF_RGD_ID:5131995 8777895 Pitx2 paired like homeodomain 2 gene DOID:9000045 De Hauwere syndrome ISO RGD:731390 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities PMID:25741868 8777895 Pitx2 paired like homeodomain 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:731390 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8777895 Pitx2 paired like homeodomain 2 gene DOID:9005162 Familial Atrial Fibrillation 1 ISO RGD:731390 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: ATFB1 PMID:25741868|PMID:28492532 8777895 Pitx2 paired like homeodomain 2 gene DOID:9007096 Stroke ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8777895 Pitx2 paired like homeodomain 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10499585|PMID:14623826 8777895 Pitx2 paired like homeodomain 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:731390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10499585 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0050563 nonsyndromic deafness ISO RGD:1606524 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human) PMID:26371875|REF_RGD_ID:11098120 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1606524 D RGD:9068941 20200609 RGD DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) PMID:23526554|REF_RGD_ID:11537471 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606524 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:27541164|PMID:28492532|PMID:28663785|PMID:31112829|PMID:33063868|PMID:3402014|PMID:34020146 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0080449 developmental and epileptic encephalopathy 16 ISO RGD:1606524 D RGD:7240710 20180130 OMIM 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0080449 developmental and epileptic encephalopathy 16 ISO RGD:1606524 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 16 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16 PMID:17576681|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:25169651|PMID:25401298|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27281533|PMID:27784474|PMID:28292732|PMID:28428906|PMID:28492532|PMID:28726039|PMID:30335140|PMID:31112829|PMID:31216405|PMID:31780880|PMID:32004315|PMID:33619735|PMID:9536098 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1606524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms PMID:10574461|PMID:10741954|PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23184456|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25401298|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:27784474|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29671961|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30311386|PMID:30335140|PMID:30776697|PMID:31112829|PMID:31257402|PMID:31780880|PMID:32369273|PMID:32581362|PMID:9536098 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1606524 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms PMID:10574461|PMID:10741954|PMID:16199547|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23184456|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24729539|PMID:24729547|PMID:24848745|PMID:25169651|PMID:25326637|PMID:25401298|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:27784474|PMID:28072960|PMID:28252636|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:28726039|PMID:29100083|PMID:29176366|PMID:29358611|PMID:29429257|PMID:29655203|PMID:29671961|PMID:29933521|PMID:30108545|PMID:30139988|PMID:30180405|PMID:30311386|PMID:30335140|PMID:30680869|PMID:30776697|PMID:30866059|PMID:31112829|PMID:31216405|PMID:31257402|PMID:31618474|PMID:31780880|PMID:31922275|PMID:32004315|PMID:32369273|PMID:32581362|PMID:32860223|PMID:33063868|PMID:33229591|PMID:33281559|PMID:33333793|PMID:33619735|PMID:33726816|PMID:33986365|PMID:3402014|PMID:34020146|PMID:9536098 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0080855 Parkinsonism ISO RGD:1606524 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25401298|PMID:25741868|PMID:27541164|PMID:28492532|PMID:28663785|PMID:29429257|PMID:29933521|PMID:31112829|PMID:33063868|PMID:3402014|PMID:34020146 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1606524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:1606524 D RGD:7240710 20180130 OMIM 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0110532 autosomal recessive nonsyndromic deafness 86 ISO RGD:1606524 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 86 PMID:22211675|PMID:22277662|PMID:24033266|PMID:24387994|PMID:24729539|PMID:24729547|PMID:24824130|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28726039|PMID:29358611|PMID:31216405|PMID:32004315|PMID:33619735|PMID:33986365 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:1606524 D RGD:7240710 20180130 OMIM 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0110586 autosomal dominant nonsyndromic deafness 65 ISO RGD:1606524 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 65 PMID:16199547|PMID:22277662|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24729539|PMID:24729547|PMID:24848745|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27669036|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:28726039|PMID:29100083|PMID:29358611|PMID:30108545|PMID:30311386|PMID:30335140|PMID:31112829|PMID:31216405|PMID:31257402|PMID:31618474|PMID:31780880|PMID:32004315|PMID:33281559|PMID:33619735|PMID:33986365 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0111448 progressive myoclonus epilepsy 1B ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B PMID:25401298|PMID:25741868|PMID:27281533|PMID:28492532|PMID:30335140 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0111627 DOORS syndrome ISO RGD:1606524 D RGD:7240710 20180130 OMIM 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0111627 DOORS syndrome ISO RGD:1606524 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOORS syndrome | ClinVar Annotator: match by term: Digitorenocerebral syndrome PMID:16199547|PMID:20727515|PMID:22211675|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24729539|PMID:24729547|PMID:24824130|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:28292732|PMID:28428906|PMID:28492532|PMID:28663785|PMID:28726039|PMID:29100083|PMID:30335140|PMID:31112829|PMID:31216405|PMID:31257402|PMID:31780880|PMID:32004315|PMID:33063868|PMID:33229591|PMID:33619735|PMID:33986365|PMID:3402014|PMID:34020146 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ISO RGD:1606524 D RGD:7240710 20190821 OMIM 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ISO RGD:1606524 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp | ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome PMID:10072049|PMID:18414213|PMID:20727515|PMID:23526554|PMID:24033266|PMID:24291220|PMID:24387994|PMID:25741868|PMID:26467025|PMID:27281533|PMID:28492532|PMID:30108545|PMID:30311386|PMID:31112829|PMID:31257402|PMID:31618474|PMID:31922275|PMID:32581362|PMID:33229591 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:1059 intellectual disability ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24291220|PMID:25401298|PMID:25741868|PMID:27281533|PMID:28492532|PMID:30335140 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:11832 visual epilepsy ISO RGD:1606524 D RGD:9068941 20220728 RGD DNA:mutation:cds:c.751T>C(p.F251L)(human) PMID:20797691|REF_RGD_ID:11537393 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:1826 epilepsy ISO RGD:1606524 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:24033266|PMID:25741868|PMID:28492532 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:308 early myoclonic encephalopathy ISO RGD:1606524 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:29358611|PMID:30311386 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:308 early myoclonic encephalopathy ISO RGD:1606524 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:27259978|PMID:27281533|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28726039|PMID:29358611|PMID:30311386|PMID:31216405|PMID:32004315|PMID:33619735 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1606524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:24033266|PMID:26467025|PMID:28492532|PMID:29358611 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:630 genetic disease ISO RGD:1606524 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10574461|PMID:16855591|PMID:17576681|PMID:18414213|PMID:20727515|PMID:22277662|PMID:23526554|PMID:23806086|PMID:24033266|PMID:24088043|PMID:24291220|PMID:24387994|PMID:24848745|PMID:25169651|PMID:25557349|PMID:25719194|PMID:25741868|PMID:25769375|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27502353|PMID:27541164|PMID:27669036|PMID:28252636|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28663785|PMID:28726039|PMID:29100083|PMID:29358611|PMID:29671961|PMID:30139988|PMID:30311386|PMID:30335140|PMID:31112829|PMID:31216405|PMID:31780880|PMID:31922275|PMID:32004315|PMID:33063868|PMID:33619735|PMID:3402014|PMID:34020146|PMID:9536098 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1606524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:9000307 Presbycusis ISO RGD:1606524 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.533C>T (p.S178L)(human) PMID:24729539|REF_RGD_ID:11537394 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:9000495 Tremor ISO RGD:1606524 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Tremor PMID:24033266|PMID:25741868|PMID:28492532 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:9001722 Dysarthria ISO RGD:1606524 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:24033266|PMID:25741868|PMID:28492532 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:9006534 Nervous System Malformations ISO RGD:1606524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:24291220|PMID:25401298|PMID:25741868|PMID:27281533|PMID:27669036|PMID:28492532|PMID:30335140|PMID:31112829|PMID:31257402|PMID:33333793 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:1606524 D RGD:7240710 20180130 OMIM 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:1606524 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy PMID:10574461|PMID:10741954|PMID:18414213|PMID:20727515|PMID:20797691|PMID:22277662|PMID:24033266|PMID:24291220|PMID:24848745|PMID:25741868|PMID:25769375|PMID:26207815|PMID:26371875|PMID:26467025|PMID:26668325|PMID:27259978|PMID:27281533|PMID:27784474|PMID:28292732|PMID:28301460|PMID:28428906|PMID:28492532|PMID:28726039|PMID:29358611|PMID:29671961|PMID:30180405|PMID:30311386|PMID:30335140|PMID:31112829|PMID:31216405|PMID:32004315|PMID:33619735 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:9007722 Myoclonus ISO RGD:1606524 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonus PMID:24033266|PMID:25741868|PMID:28492532 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:9008086 Developmental Disabilities ISO RGD:1606524 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:31922275|PMID:32581362 8777913 Tbc1d24 TBC1 domain family member 24 gene DOID:9650 pathologic nystagmus ISO RGD:1606524 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:24033266|PMID:25741868|PMID:28492532 8777928 Spag6 sperm associated antigen 6 gene DOID:630 genetic disease ISO RGD:1313749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777949 Ppp1r2 protein phosphatase 1 regulatory inhibitor subunit 2 gene DOID:630 genetic disease ISO RGD:1343622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8777958 LOC102025174 chromosome unknown open reading frame, human C16orf95 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:5132711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8777958 LOC102025174 chromosome unknown open reading frame, human C16orf95 gene DOID:14780 KBG syndrome ISO RGD:5132711 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8777958 LOC102025174 chromosome unknown open reading frame, human C16orf95 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:5132711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8777993 Vps13a vacuolar protein sorting 13 homolog A gene DOID:0050765 neuroacanthocytosis ISO RGD:1312307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8777993 Vps13a vacuolar protein sorting 13 homolog A gene DOID:0050766 choreaacanthocytosis ISO RGD:1312307 D RGD:7240710 20180725 OMIM 8777993 Vps13a vacuolar protein sorting 13 homolog A gene DOID:0050766 choreaacanthocytosis ISO RGD:1312307 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chorea-acanthocytosis | ClinVar Annotator: match by term: VPS13A-related condition PMID:11381253|PMID:11381254|PMID:12404112|PMID:14663054|PMID:15824261|PMID:15918062|PMID:16199547|PMID:17516458|PMID:17576681|PMID:17998451|PMID:21145924|PMID:21598378|PMID:22038564|PMID:22777538|PMID:24033266|PMID:24974674|PMID:25733999|PMID:25741868|PMID:26467025|PMID:26870756|PMID:27400454|PMID:28492532|PMID:31192303|PMID:32131761|PMID:9536098 8777993 Vps13a vacuolar protein sorting 13 homolog A gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1312307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:17436247|PMID:25152457|PMID:28492532 8777993 Vps13a vacuolar protein sorting 13 homolog A gene DOID:12859 choreatic disease ISO RGD:1312307 D RGD:9068941 20200609 RGD choreoacanthocytosis, OMIM:200150 PMID:11381253|REF_RGD_ID:1599747 8777993 Vps13a vacuolar protein sorting 13 homolog A gene DOID:630 genetic disease ISO RGD:1312307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8777993 Vps13a vacuolar protein sorting 13 homolog A gene DOID:8725 vascular dementia ISO RGD:1312307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 8777993 Vps13a vacuolar protein sorting 13 homolog A gene DOID:9006534 Nervous System Malformations ISO RGD:1312307 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12404112|PMID:16199547|PMID:21598378|PMID:25741868|PMID:28492532|PMID:31543803 8778085 Sec14l5 SEC14 like lipid binding 5 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1605420 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 8778085 Sec14l5 SEC14 like lipid binding 5 gene DOID:630 genetic disease ISO RGD:1605420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778106 Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1342685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8778106 Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:0080206 CAKUT1 ISO RGD:1342685 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 8778106 Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1342685 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:25590979|PMID:25741868|PMID:30257206 8778106 Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8778106 Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:630 genetic disease ISO RGD:1342685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778106 Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1342685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8778106 Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8778106 Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1342685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8778166 Ndufaf7 NADH:ubiquinone oxidoreductase complex assembly factor 7 gene DOID:0080690 RASopathy ISO RGD:1602217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8778166 Ndufaf7 NADH:ubiquinone oxidoreductase complex assembly factor 7 gene DOID:630 genetic disease ISO RGD:1602217 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8778180 Rdh13 retinol dehydrogenase 13 gene DOID:630 genetic disease ISO RGD:1312701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778180 Rdh13 retinol dehydrogenase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27865848 8778180 Rdh13 retinol dehydrogenase 13 gene DOID:9005749 Necrosis ISO RGD:1312701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27865848 8778180 Rdh13 retinol dehydrogenase 13 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1312701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27865848 8778194 Rgs5 regulator of G protein signaling 5 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:730866 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs15049) C>A (human) PMID:27354594|REF_RGD_ID:152177496 8778194 Rgs5 regulator of G protein signaling 5 gene DOID:10763 hypertension ISO RGD:730866 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1798635 8778194 Rgs5 regulator of G protein signaling 5 gene DOID:10763 hypertension treatment ISO RGD:3568 D RGD:9068941 20200609 RGD PMID:21825230|REF_RGD_ID:7207400 8778194 Rgs5 regulator of G protein signaling 5 gene DOID:10825 essential hypertension ISO RGD:730866 D RGD:7240710 20180130 OMIM 8778194 Rgs5 regulator of G protein signaling 5 gene DOID:1540 parathyroid carcinoma ISO RGD:730866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8778194 Rgs5 regulator of G protein signaling 5 gene DOID:630 genetic disease ISO RGD:730866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778194 Rgs5 regulator of G protein signaling 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8778194 Rgs5 regulator of G protein signaling 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary liability to pressure palsies PMID:25741868|PMID:26467025|PMID:28492532 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:0081350 congenital myopathy 18 ISO RGD:736857 D RGD:7240710 20240308 OMIM 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:0081350 congenital myopathy 18 ISO RGD:736857 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital myopathy 18 PMID:10590402|PMID:11260227|PMID:11940049|PMID:12411788|PMID:17576681|PMID:19825159|PMID:20431982|PMID:24195946|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26467025|PMID:28008999|PMID:28012042|PMID:28326467|PMID:28492532|PMID:30236257|PMID:30325262|PMID:31227654|PMID:33060286|PMID:9199552|PMID:9536098 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736857 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:11162 respiratory failure ISO RGD:736857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822448 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:14452 hypokalemic periodic paralysis ISO RGD:736857 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis PMID:10590402|PMID:11034874|PMID:11260227|PMID:11808349|PMID:12411788|PMID:15201141|PMID:15726306|PMID:16163667|PMID:17576681|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20431982|PMID:22547813|PMID:22992668|PMID:23663834|PMID:24433488|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28259615|PMID:28492532|PMID:29193480|PMID:30236257|PMID:33564012|PMID:7847370|PMID:7987325|PMID:9066893|PMID:9199552|PMID:9536098 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:1540 parathyroid carcinoma ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:2843 long QT syndrome ISO RGD:736857 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:630 genetic disease ISO RGD:736857 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24195946|PMID:25132214|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32054689 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:767 muscular atrophy ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868|PMID:31227654 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:7240710 20240308 OMIM 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperpyrexia, malignant | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia susceptibility | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:1982519|PMID:20861472|PMID:22547813|PMID:22992668|PMID:23662824|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28166811|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:9199552|PMID:9536098 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:11260227|PMID:12411788|PMID:15201141|PMID:16163667|PMID:17576681|PMID:19825159|PMID:20861472|PMID:22547813|PMID:22992668|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24784157|PMID:25132214|PMID:25637381|PMID:25735680|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28011884|PMID:28166811|PMID:28326467|PMID:28492532|PMID:29193480|PMID:29212769|PMID:9199552|PMID:9536098 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Anesthesia related hyperthermia | ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11555352|PMID:11591859|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15201141|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:18162704|PMID:18229654|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28326467|PMID:28492532|PMID:28857175|PMID:29193480|PMID:29212769|PMID:29572832|PMID:30090141|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31227654|PMID:33042247|PMID:33060286|PMID:33184660|PMID:34008892|PMID:34608571|PMID:34804722|PMID:35509735|PMID:7847370|PMID:7987325|PMID:8004673|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9536098 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:8545 malignant hyperthermia ISO RGD:736857 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia | ClinVar Annotator: match by term: Malignant hyperpyrexia susceptibility type 5 | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11555352|PMID:11591859|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15201141|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:18162704|PMID:18229654|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26467025|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28326467|PMID:28492532|PMID:28857175|PMID:29193480|PMID:29212769|PMID:29572832|PMID:30090141|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31227654|PMID:33042247|PMID:33060286|PMID:33184660|PMID:33564012|PMID:34008892|PMID:34608571|PMID:34804722|PMID:35509735|PMID:7847370|PMID:7987325|PMID:8004673|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9536098 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9000884 Rhabdomyolysis ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736857 D RGD:7240710 20240308 OMIM 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736857 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1 | ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:10074484|PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11328898|PMID:11353725|PMID:11555352|PMID:11591859|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15098604|PMID:15201141|PMID:15711422|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:17587224|PMID:18162704|PMID:18229654|PMID:18325191|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19779499|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:21855088|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23187123|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24240197|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26433613|PMID:26467025|PMID:26633545|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28857175|PMID:28972032|PMID:29048924|PMID:29193480|PMID:29212769|PMID:29572832|PMID:29792937|PMID:30090141|PMID:30236257|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31227654|PMID:31380823|PMID:31447099|PMID:31567646|PMID:32054689|PMID:33005891|PMID:33042247|PMID:33060286|PMID:33184660|PMID:33667896|PMID:34008892|PMID:34440373|PMID:34463712|PMID:34608571|PMID:34804722|PMID:35509735|PMID:7650604|PMID:7847370|PMID:7897626|PMID:7987325|PMID:8004673|PMID:8605978|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9512357|PMID:9536098|PMID:9852570 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736857 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1 | ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:10074484|PMID:10523403|PMID:10590402|PMID:10639629|PMID:11034874|PMID:11260227|PMID:11328898|PMID:11353725|PMID:11555352|PMID:11591859|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15098604|PMID:15201141|PMID:15711422|PMID:15716625|PMID:15726306|PMID:16163667|PMID:16199547|PMID:17418573|PMID:17576681|PMID:17587224|PMID:18162704|PMID:18229654|PMID:18325191|PMID:18835861|PMID:19118277|PMID:19225109|PMID:19779499|PMID:19822448|PMID:19825159|PMID:1982519|PMID:20213496|PMID:20301512|PMID:20431982|PMID:20861472|PMID:21841462|PMID:21855088|PMID:22547813|PMID:22901280|PMID:22992668|PMID:23187123|PMID:23663834|PMID:24033266|PMID:24055113|PMID:24195946|PMID:24240197|PMID:24433488|PMID:24784157|PMID:25132214|PMID:25213595|PMID:25430699|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26252573|PMID:26332594|PMID:26433613|PMID:26467025|PMID:26633545|PMID:27147545|PMID:28008999|PMID:28011884|PMID:28012042|PMID:28259615|PMID:28326467|PMID:28492532|PMID:28686619|PMID:28857175|PMID:28972032|PMID:29048924|PMID:29193480|PMID:29212769|PMID:29572832|PMID:29792937|PMID:30090141|PMID:30236257|PMID:30319441|PMID:30325262|PMID:3037387|PMID:31068157|PMID:31227654|PMID:31380823|PMID:31447099|PMID:31567646|PMID:32054689|PMID:33005891|PMID:33042247|PMID:33060286|PMID:33184660|PMID:33564012|PMID:33667896|PMID:34008892|PMID:34440373|PMID:34463712|PMID:34608571|PMID:34804722|PMID:35509735|PMID:7650604|PMID:7847370|PMID:7897626|PMID:7987325|PMID:8004673|PMID:8605978|PMID:9066893|PMID:9132138|PMID:9199552|PMID:9512357|PMID:9536098|PMID:9852570 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9004484 Sepsis ISO RGD:70983 D RGD:9068941 20230615 RGD protein:decreased expression:diaphragmaticus muscle PMID:28044347|REF_RGD_ID:329849111 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9006927 Thyrotoxic Periodic Paralysis ISO RGD:736857 D RGD:7240710 20240308 OMIM 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9006927 Thyrotoxic Periodic Paralysis ISO RGD:736857 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1 PMID:10590402|PMID:11034874|PMID:11260227|PMID:11808349|PMID:11940049|PMID:12411788|PMID:15001631|PMID:15726306|PMID:17576681|PMID:19822448|PMID:19825159|PMID:20431982|PMID:24195946|PMID:25637381|PMID:25658027|PMID:25735680|PMID:25741868|PMID:26247046|PMID:26467025|PMID:28008999|PMID:28012042|PMID:28326467|PMID:28492532|PMID:29193480|PMID:30236257|PMID:30325262|PMID:31227654|PMID:33060286|PMID:7847370|PMID:7987325|PMID:9066893|PMID:9199552|PMID:9536098 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9006956 nephrotoxicity treatment ISO RGD:70983 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8778210 Cacna1s calcium voltage-gated channel subunit alpha1 S gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8778258 Ube2i ubiquitin conjugating enzyme E2 I gene DOID:0080325 tuberous sclerosis 2 ISO RGD:734464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8778258 Ube2i ubiquitin conjugating enzyme E2 I gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:734464 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8778258 Ube2i ubiquitin conjugating enzyme E2 I gene DOID:11054 urinary bladder cancer ISO RGD:734464 D RGD:9068941 20200609 RGD radiation-induced dysplasia and carcinoma in situ; protein:increased expression:bladder urothelium:increased in Chernobyl victims vs controls from uncontaminated areas of the Ukraine (p<0.001) PMID:16407042|REF_RGD_ID:2301343 8778258 Ube2i ubiquitin conjugating enzyme E2 I gene DOID:12930 dilated cardiomyopathy ISO RGD:734464 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle PMID:23360823|REF_RGD_ID:13831294 8778258 Ube2i ubiquitin conjugating enzyme E2 I gene DOID:1826 epilepsy ISO RGD:734464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8778258 Ube2i ubiquitin conjugating enzyme E2 I gene DOID:1827 idiopathic generalized epilepsy ISO RGD:734464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8778258 Ube2i ubiquitin conjugating enzyme E2 I gene DOID:2394 ovarian cancer ISO RGD:734464 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:relative to normal ovarian epithelium from the same patient (p<0.01) PMID:15735760|REF_RGD_ID:2301345 8778258 Ube2i ubiquitin conjugating enzyme E2 I gene DOID:305 carcinoma ISO RGD:734464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8778258 Ube2i ubiquitin conjugating enzyme E2 I gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8778258 Ube2i ubiquitin conjugating enzyme E2 I gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8778258 Ube2i ubiquitin conjugating enzyme E2 I gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734464 D RGD:9068941 20200609 RGD MCF-7 human breast cancer cell tumors grown in nude mice PMID:15735760|REF_RGD_ID:2301345 8778277 Actn4 actinin alpha 4 gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:735302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 PMID:16251236|PMID:18594871|PMID:19956976|PMID:21680739|PMID:22732337|PMID:25741868|PMID:26248470|PMID:26346198|PMID:26467025|PMID:27535533|PMID:28492532 8778277 Actn4 actinin alpha 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:735302 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8778277 Actn4 actinin alpha 4 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735302 D RGD:7240710 20180221 OMIM 8778277 Actn4 actinin alpha 4 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:735302 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 PMID:10700177|PMID:16251236|PMID:18594871|PMID:19142020|PMID:19956976|PMID:21680739|PMID:22351778|PMID:22732337|PMID:23890478|PMID:24130771|PMID:25741868|PMID:26248470|PMID:26301083|PMID:26346198|PMID:26467025|PMID:26740551|PMID:27535533|PMID:28492532|PMID:29869118|PMID:30406062|PMID:31027891|PMID:36090564 8778277 Actn4 actinin alpha 4 gene DOID:1184 nephrotic syndrome ISO RGD:735302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 8778277 Actn4 actinin alpha 4 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:735302 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:16251236|PMID:18594871|PMID:19142020|PMID:19956976|PMID:21680739|PMID:22732337|PMID:23890478|PMID:24130771|PMID:25741868|PMID:26248470|PMID:26346198|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29869118|PMID:31027891|PMID:31930129 8778277 Actn4 actinin alpha 4 gene DOID:1312 focal segmental glomerulosclerosis susceptibility ISO RGD:735302 D RGD:9068941 20200609 RGD PMID:10700177|REF_RGD_ID:1598731 8778277 Actn4 actinin alpha 4 gene DOID:305 carcinoma ISO RGD:735302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8778277 Actn4 actinin alpha 4 gene DOID:557 kidney disease ISO RGD:735302 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:19142020|PMID:25741868|PMID:26467025|PMID:28492532 8778277 Actn4 actinin alpha 4 gene DOID:630 genetic disease ISO RGD:735302 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8778277 Actn4 actinin alpha 4 gene DOID:784 chronic kidney disease ISO RGD:735302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 8778277 Actn4 actinin alpha 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8778277 Actn4 actinin alpha 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8778277 Actn4 actinin alpha 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8778277 Actn4 actinin alpha 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735302 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:0050127 sinusitis ISO RGD:1346821 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:nasal mucosa PMID:21385388|REF_RGD_ID:5147389 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:2841 asthma ISO RGD:1346821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:11813133 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:2841 asthma no_association ISO RGD:1346821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-112G>A (human) PMID:18201431|REF_RGD_ID:5144230 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:2841 asthma severity ISO RGD:1346821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-112G>A (human) PMID:18089940|REF_RGD_ID:5144231 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:2841 asthma susceptibility ISO RGD:1346821 D RGD:7240710 20190502 OMIM 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1558355 D RGD:9068941 20200609 RGD PMID:21478551|REF_RGD_ID:5144129 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346821 D RGD:9068941 20200609 RGD PMID:20466451|REF_RGD_ID:5147390 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:1346821 D RGD:9068941 20200609 RGD DNA:SNP: :rs7726552 (human) PMID:21410962|REF_RGD_ID:5144225 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:4483 rhinitis ISO RGD:1346821 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:nasal mucosa PMID:21385388|REF_RGD_ID:5147389 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:4483 rhinitis ISO RGD:1346821 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:17218572|REF_RGD_ID:5144232 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:630 genetic disease ISO RGD:1346821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1346821 D RGD:9068941 20200609 RGD PMID:19418968|REF_RGD_ID:5147392 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1558355 D RGD:9068941 20200609 RGD PMID:20466451|REF_RGD_ID:5147390 8778310 Scgb3a2 secretoglobin family 3A member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8778362 Neu2 neuraminidase 2 gene DOID:0060476 Perlman syndrome ISO RGD:736190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8778362 Neu2 neuraminidase 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:736190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8778362 Neu2 neuraminidase 2 gene DOID:630 genetic disease ISO RGD:736190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778371 Spns3 SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) gene DOID:630 genetic disease ISO RGD:1601816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778396 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1345303 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8778396 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:1273 respiratory syncytial virus infectious disease IEP D RGD:11554170|PMID:23018837 20161020 RGD 8778396 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:1273 respiratory syncytial virus infectious disease treatment ISS RGD:1345303 D RGD:11554170|PMID:23018837 20161020 RGD 8778396 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:6000 congestive heart failure ISO RGD:1345303 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8778396 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:630 genetic disease ISO RGD:1345303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778396 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:9001488 Human Influenza ISO RGD:1345303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8778396 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:9006205 Animal Disease Models ISO RGD:1345303 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8778396 Rsad2 radical S-adenosyl methionine domain containing 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1345303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8778406 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8778406 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1346195 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:34102099 8778406 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9000636 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT ISO RGD:1346195 D RGD:7240710 20211215 OMIM 8778406 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9000636 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT ISO RGD:1346195 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal dominant PMID:25741868|PMID:34102099 8778406 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9002076 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE ISO RGD:1346195 D RGD:7240710 20211215 OMIM 8778406 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9002076 USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE ISO RGD:1346195 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Usmani-Riazuddin syndrome, autosomal recessive PMID:25741868|PMID:34102099 8778406 Ap1g1 adaptor related protein complex 1 subunit gamma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8778454 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8778454 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8778454 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 8778454 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:12849 autistic disorder ISO RGD:1344064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8778454 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:607 paraplegia ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8778454 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:630 genetic disease ISO RGD:1344064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778454 Ribc1 RIB43A domain with coiled-coils 1 gene DOID:9004603 Atkin Syndrome ISO RGD:1344064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 8778490 Pitx3 paired like homeodomain 3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732297 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:18989383|PMID:9620774 8778490 Pitx3 paired like homeodomain 3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:732297 D RGD:9068941 20220512 RGD DNA:insertion:exon:c.657ins17bp PMID:18989383|REF_RGD_ID:11535067 8778490 Pitx3 paired like homeodomain 3 gene DOID:0060648 anterior segment dysgenesis ISO RGD:736766 D RGD:9068941 20221027 MouseDO 8778490 Pitx3 paired like homeodomain 3 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:732297 D RGD:7240710 20190327 OMIM 8778490 Pitx3 paired like homeodomain 3 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:732297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:10361984|PMID:15286169|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 8778490 Pitx3 paired like homeodomain 3 gene DOID:0110249 cataract 11 multiple types ISO RGD:732297 D RGD:7240710 20180130 OMIM 8778490 Pitx3 paired like homeodomain 3 gene DOID:0110249 cataract 11 multiple types ISO RGD:732297 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar PMID:10361984|PMID:15286169|PMID:16565358|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 8778490 Pitx3 paired like homeodomain 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:732297 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human) PMID:9620774|REF_RGD_ID:737764 8778490 Pitx3 paired like homeodomain 3 gene DOID:10629 microphthalmia ISO RGD:732297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565358 8778490 Pitx3 paired like homeodomain 3 gene DOID:10629 microphthalmia ISO RGD:736766 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cl444C>A(mouse) PMID:25347445|REF_RGD_ID:11535071 8778490 Pitx3 paired like homeodomain 3 gene DOID:14330 Parkinson's disease ISO RGD:736766 D RGD:9068941 20200609 RGD PMID:18573342|REF_RGD_ID:11535079 8778490 Pitx3 paired like homeodomain 3 gene DOID:14330 Parkinson's disease ISO RGD:736766 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 8778490 Pitx3 paired like homeodomain 3 gene DOID:630 genetic disease ISO RGD:732297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778490 Pitx3 paired like homeodomain 3 gene DOID:83 cataract ISO RGD:732297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 8778490 Pitx3 paired like homeodomain 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8778490 Pitx3 paired like homeodomain 3 gene DOID:9003814 Neurologic Manifestations ISO RGD:732297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565358 8778490 Pitx3 paired like homeodomain 3 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8778490 Pitx3 paired like homeodomain 3 gene DOID:9005728 Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities ISO RGD:732297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities PMID:15286169|PMID:16565358 8778490 Pitx3 paired like homeodomain 3 gene DOID:9008804 Aphakia ISO RGD:736766 D RGD:9068941 20200609 RGD DNA:deletions:promoter, cds: PMID:11247667|REF_RGD_ID:11535075 8778490 Pitx3 paired like homeodomain 3 gene DOID:9008804 Aphakia ISO RGD:736766 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cl444C>A(mouse) PMID:25347445|REF_RGD_ID:11535071 8778498 LOC102017726 chromosome unknown open reading frame, human C20orf202 gene DOID:630 genetic disease ISO RGD:1602798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778506 Pccb propionyl-CoA carboxylase subunit beta gene DOID:14701 propionic acidemia ISO RGD:731965 D RGD:7240710 20180130 OMIM 8778506 Pccb propionyl-CoA carboxylase subunit beta gene DOID:14701 propionic acidemia ISO RGD:731965 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10447268|PMID:10502773|PMID:10780784|PMID:10820128|PMID:10910839|PMID:11136555|PMID:11749052|PMID:12007220|PMID:12189489|PMID:12409268|PMID:12559849|PMID:12757933|PMID:12888983|PMID:15059621|PMID:15235904|PMID:15464417|PMID:15890657|PMID:15949719|PMID:16199547|PMID:17051315|PMID:17415538|PMID:17576681|PMID:17966092|PMID:18599334|PMID:19099776|PMID:19238581|PMID:19342984|PMID:20549364|PMID:20725044|PMID:21125326|PMID:2154743|PMID:22033733|PMID:22156789|PMID:22334403|PMID:22593918|PMID:22863191|PMID:23053474|PMID:23430860|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24863100|PMID:24916042|PMID:25047749|PMID:25087612|PMID:25636094|PMID:25741868|PMID:25741895|PMID:25851414|PMID:25865301|PMID:26467025|PMID:26589311|PMID:26830710|PMID:27089410|PMID:27227689|PMID:27243974|PMID:27578510|PMID:27776753|PMID:27825584|PMID:27896094|PMID:27900673|PMID:28492532|PMID:28649556|PMID:28853722|PMID:29033250|PMID:29247206|PMID:29679984|PMID:30013935|PMID:30274917|PMID:30705822|PMID:31249402|PMID:31757659|PMID:31808324|PMID:31916709|PMID:32252659|PMID:32778825|PMID:32860008|PMID:33028371|PMID:33473339|PMID:33587123|PMID:33725819|PMID:33798502|PMID:33923806|PMID:33981581|PMID:34006296|PMID:34670123|PMID:35132093|PMID:35189944|PMID:35296328|PMID:35331292|PMID:8023851|PMID:8225321|PMID:8295402|PMID:8411997|PMID:8852656|PMID:9452096|PMID:9536098|PMID:9683601 8778506 Pccb propionyl-CoA carboxylase subunit beta gene DOID:630 genetic disease ISO RGD:731965 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11136555|PMID:11749052|PMID:12007220|PMID:12757933|PMID:15059621|PMID:15464417|PMID:15949719|PMID:22033733|PMID:22334403|PMID:22593918|PMID:23053474|PMID:23430860|PMID:24863100|PMID:25047749|PMID:25741868|PMID:27089410|PMID:27776753|PMID:28492532|PMID:30274917|PMID:31249402|PMID:31916709|PMID:33473339|PMID:33725819|PMID:8023851|PMID:9683601 8778506 Pccb propionyl-CoA carboxylase subunit beta gene DOID:9008086 Developmental Disabilities ISO RGD:731965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8778506 Pccb propionyl-CoA carboxylase subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8778506 Pccb propionyl-CoA carboxylase subunit beta gene DOID:9252 amino acid metabolic disorder ISO RGD:731965 D RGD:9068941 20200609 RGD propionic acidemia, OMIM:606054, DNA:point mutation:exon:R412W PMID:8411997|REF_RGD_ID:1600331 8778530 Mafk MAF bZIP transcription factor K gene DOID:630 genetic disease ISO RGD:1350091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778540 Pskh1 protein serine kinase H1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8778540 Pskh1 protein serine kinase H1 gene DOID:630 genetic disease ISO RGD:1312210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778548 Cfap44 cilia and flagella associated protein 44 gene DOID:0070166 spermatogenic failure 20 ISO RGD:1343890 D RGD:7240710 20190315 OMIM 8778548 Cfap44 cilia and flagella associated protein 44 gene DOID:0070166 spermatogenic failure 20 ISO RGD:1343890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 20 PMID:25741868|PMID:28552195|PMID:29277146|PMID:29449551 8778548 Cfap44 cilia and flagella associated protein 44 gene DOID:630 genetic disease ISO RGD:1343890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8778587 Nek8 NIMA related kinase 8 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1552572 D RGD:9068941 20220825 MouseDO OMIM:263200 8778587 Nek8 NIMA related kinase 8 gene DOID:0111120 nephronophthisis 9 ISO RGD:1315774 D RGD:7240710 20180130 OMIM 8778587 Nek8 NIMA related kinase 8 gene DOID:0111120 nephronophthisis 9 ISO RGD:1315774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 9 PMID:16199547|PMID:17576681|PMID:18199800|PMID:22106379|PMID:23026745|PMID:23418306|PMID:25741868|PMID:26697755|PMID:26967905|PMID:28492532|PMID:9536098 8778587 Nek8 NIMA related kinase 8 gene DOID:5426 primary ovarian insufficiency ISO RGD:1315774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:23418306|PMID:25741868|PMID:28492532 8778587 Nek8 NIMA related kinase 8 gene DOID:557 kidney disease ISO RGD:1315774 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 8778587 Nek8 NIMA related kinase 8 gene DOID:630 genetic disease ISO RGD:1315774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8778587 Nek8 NIMA related kinase 8 gene DOID:9001222 Renal-Hepatic-Pancreatic Dysplasia 2 ISO RGD:1315774 D RGD:7240710 20180130 OMIM 8778587 Nek8 NIMA related kinase 8 gene DOID:9001222 Renal-Hepatic-Pancreatic Dysplasia 2 ISO RGD:1315774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 PMID:19550299|PMID:23418306|PMID:25741868|PMID:25741876|PMID:26697755|PMID:26862157|PMID:26967905|PMID:28492532 8778587 Nek8 NIMA related kinase 8 gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1315774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:20581473 8778609 Fgl1 fibrinogen like 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:737041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8778609 Fgl1 fibrinogen like 1 gene DOID:630 genetic disease ISO RGD:737041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778621 Znf335 zinc finger protein 335 gene DOID:0070294 primary autosomal recessive microcephaly 10 ISO RGD:732123 D RGD:7240710 20180130 OMIM 8778621 Znf335 zinc finger protein 335 gene DOID:0070294 primary autosomal recessive microcephaly 10 ISO RGD:732123 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 PMID:19131338|PMID:23178126|PMID:25741868|PMID:27540107|PMID:28327206|PMID:28492532|PMID:29652087|PMID:33216650 8778621 Znf335 zinc finger protein 335 gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:732123 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:25741868 8778621 Znf335 zinc finger protein 335 gene DOID:2234 focal epilepsy ISO RGD:732123 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8778621 Znf335 zinc finger protein 335 gene DOID:630 genetic disease ISO RGD:732123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19131338|PMID:22495306|PMID:23178126|PMID:25741868|PMID:26795593|PMID:27540107|PMID:28492532 8778621 Znf335 zinc finger protein 335 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:732123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8778621 Znf335 zinc finger protein 335 gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:732123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of the aminoacylase-1 enzyme 8778672 Armh3 armadillo like helical domain containing 3 gene DOID:0060224 atrial fibrillation ISO RGD:1313900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8778712 Selenoo selenoprotein O gene DOID:0060041 autism spectrum disorder ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8778712 Selenoo selenoprotein O gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1605929 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8778712 Selenoo selenoprotein O gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8778712 Selenoo selenoprotein O gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8778712 Selenoo selenoprotein O gene DOID:10581 metachromatic leukodystrophy ISO RGD:1605929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8778712 Selenoo selenoprotein O gene DOID:1059 intellectual disability ISO RGD:1605929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8778712 Selenoo selenoprotein O gene DOID:630 genetic disease ISO RGD:1605929 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778734 Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:1059 intellectual disability ISO RGD:1603604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8778734 Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:12704 ataxia telangiectasia ISO RGD:1603604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8778734 Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:630 genetic disease ISO RGD:1603604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778734 Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8778741 Engase endo-beta-N-acetylglucosaminidase gene DOID:630 genetic disease ISO RGD:1601977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778741 Engase endo-beta-N-acetylglucosaminidase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1601977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 8778765 Lysmd3 LysM domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8778765 Lysmd3 LysM domain containing 3 gene DOID:630 genetic disease ISO RGD:1606178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778765 Lysmd3 LysM domain containing 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1606178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8778765 Lysmd3 LysM domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8778765 Lysmd3 LysM domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606178 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8778790 Tcf15 transcription factor 15 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1318246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 8778790 Tcf15 transcription factor 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8778790 Tcf15 transcription factor 15 gene DOID:630 genetic disease ISO RGD:1318246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778790 Tcf15 transcription factor 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8778790 Tcf15 transcription factor 15 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1318246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 8778802 Mfsd1 major facilitator superfamily domain containing 1 gene DOID:630 genetic disease ISO RGD:1346472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:0050890 synucleinopathy ameliorates ISO RGD:1561168 D RGD:9068941 20221201 RGD PMID:24927544|REF_RGD_ID:13462057 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:0060180 colitis ISO RGD:1557751 D RGD:9068941 20200609 RGD PMID:21983832|REF_RGD_ID:5508401 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:0060260 ptosis ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:0060368 Parkinson's disease 2 ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16172858|PMID:16240353|PMID:16269541|PMID:16311269|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16728648|PMID:16750377|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17215492|PMID:17353388|PMID:17938369|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:20008657|PMID:20197411|PMID:20301387|PMID:21115957|PMID:21280089|PMID:21753163|PMID:21850687|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29386392|PMID:29402177 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:0060371 Parkinson's disease 8 ISO RGD:1353141 D RGD:7240710 20180130 OMIM 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:0060371 Parkinson's disease 8 ISO RGD:1353141 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 | ClinVar Annotator: match by term: LRRK2-related condition PMID:15541308|PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15925109|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16003110|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16157909|PMID:16172858|PMID:16199547|PMID:16240353|PMID:16247070|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16272164|PMID:16311269|PMID:16321986|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16616379|PMID:16622854|PMID:16633828|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16788020|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:16991141|PMID:17019612|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17095157|PMID:17149743|PMID:17179858|PMID:17200152|PMID:17215492|PMID:17222106|PMID:17353388|PMID:17419834|PMID:17442267|PMID:17447891|PMID:17482357|PMID:17523199|PMID:17540608|PMID:17576681|PMID:17584768|PMID:17622782|PMID:17623048|PMID:17659642|PMID:17803033|PMID:17804834|PMID:17914064|PMID:17938369|PMID:18098275|PMID:18197194|PMID:18213618|PMID:18230735|PMID:18265005|PMID:18337586|PMID:18358451|PMID:18412265|PMID:18539534|PMID:18539535|PMID:18591067|PMID:18688798|PMID:18704525|PMID:18716801|PMID:18781329|PMID:18923807|PMID:18973254|PMID:18973807|PMID:18981379|PMID:18986508|PMID:19006185|PMID:19020907|PMID:19283415|PMID:19308469|PMID:19343804|PMID:19357115|PMID:19405094|PMID:19472409|PMID:19489756|PMID:19527940|PMID:19625296|PMID:19667187|PMID:19699188|PMID:19735093|PMID:19741132|PMID:19781641|PMID:19800393|PMID:20008657|PMID:20177695|PMID:20186690|PMID:20197411|PMID:20301387|PMID:20386743|PMID:20443975|PMID:20642453|PMID:20669299|PMID:20721913|PMID:21060682|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21406209|PMID:21494637|PMID:21538529|PMID:21632271|PMID:21641848|PMID:21658387|PMID:21661047|PMID:21753163|PMID:21796139|PMID:21850687|PMID:21885347|PMID:22004453|PMID:22251894|PMID:22342962|PMID:22415848|PMID:22445250|PMID:22539006|PMID:22575234|PMID:22612223|PMID:22988866|PMID:22988870|PMID:23075850|PMID:23124679|PMID:23241358|PMID:23241745|PMID:23472874|PMID:23600457|PMID:23726462|PMID:23764467|PMID:23913756|PMID:23963289|PMID:24033266|PMID:24082139|PMID:24148854|PMID:24243757|PMID:24351927|PMID:24357540|PMID:24360742|PMID:24470158|PMID:24488318|PMID:24496098|PMID:24565865|PMID:24695735|PMID:24816003|PMID:24821816|PMID:24973808|PMID:25027012|PMID:25127457|PMID:25133958|PMID:25174650|PMID:25174890|PMID:25243190|PMID:25316291|PMID:25330418|PMID:25355420|PMID:25360523|PMID:25378673|PMID:25466404|PMID:25741868|PMID:25821816|PMID:25943890|PMID:26062626|PMID:26213354|PMID:26251043|PMID:26363496|PMID:26467025|PMID:26930193|PMID:27013965|PMID:27094865|PMID:27111571|PMID:27294386|PMID:27393345|PMID:27798102|PMID:27832104|PMID:28103901|PMID:28166811|PMID:28453723|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29248340|PMID:29332010|PMID:29369408|PMID:29386392|PMID:29402177|PMID:29576439|PMID:29800472|PMID:29859640|PMID:30039155|PMID:30049590|PMID:30363439|PMID:30502028|PMID:30598256|PMID:30796162|PMID:32171587|PMID:32398759|PMID:32580205|PMID:32677286|PMID:32707456|PMID:32794657|PMID:33158606|PMID:33281709|PMID:33640967|PMID:33818904|PMID:35861376|PMID:35950872|PMID:7898705|PMID:9276200|PMID:9536098 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16172858|PMID:16240353|PMID:16269541|PMID:16311269|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16728648|PMID:16750377|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17215492|PMID:17353388|PMID:17938369|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:20008657|PMID:20197411|PMID:20301387|PMID:21115957|PMID:21280089|PMID:21538529|PMID:21753163|PMID:21850687|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24565865|PMID:24660942|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:27111571|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29386392|PMID:29402177 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1353141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:18412265|PMID:18688798|PMID:18716801|PMID:18781329|PMID:19699188|PMID:20301387|PMID:20642453|PMID:21885347|PMID:25243190|PMID:26930193|PMID:28492532 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:0080855 Parkinsonism ISO RGD:1353141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23046578|PMID:25017139|PMID:26558463 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:0080855 Parkinsonism ISO RGD:1353141 D RGD:9068941 20200609 RGD PMID:20729864|REF_RGD_ID:5508414 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:0110042 Alzheimer's disease 3 ISO RGD:1353141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance PMID:18412265|PMID:18688798|PMID:18716801|PMID:18781329|PMID:19699188|PMID:20301387|PMID:20642453|PMID:21885347|PMID:25243190|PMID:26930193|PMID:28492532 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:1024 leprosy ISO RGD:1353141 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:26467025|PMID:28492532 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:1289 neurodegenerative disease ISO RGD:1561168 D RGD:9068941 20200609 RGD PMID:24927544|REF_RGD_ID:13462057 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1353141 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant | ClinVar Annotator: match by term: Parkinson disease PMID:16172858|PMID:16633828|PMID:17019612|PMID:17659642|PMID:18688798|PMID:18704525|PMID:19357115|PMID:19741132|PMID:19800393|PMID:20186690|PMID:20301387|PMID:22612223|PMID:24033266|PMID:25027012|PMID:25243190|PMID:25741868|PMID:26467025|PMID:28103901|PMID:28492532 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:14330 Parkinson's disease no_association ISO RGD:1353141 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G2019S (human) PMID:21483109|REF_RGD_ID:5508406 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1353141 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R1398H (human) PMID:21159540|REF_RGD_ID:5508409 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:162 cancer susceptibility ISO RGD:1353141 D RGD:9068941 20200609 RGD associated with Parkinson Disease;DNA:missense mutation:cds:p.G2019S (human) PMID:20818610|REF_RGD_ID:5508410 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:289 endometriosis ISO RGD:1353141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1353141 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:21375368|REF_RGD_ID:5508417 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1353141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:630 genetic disease ISO RGD:1353141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16240353|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16311269|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16622854|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17215492|PMID:17353388|PMID:17803033|PMID:17938369|PMID:18213618|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:19357115|PMID:19472409|PMID:19489756|PMID:19527940|PMID:20008657|PMID:20197411|PMID:20301387|PMID:20669299|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21753163|PMID:21850687|PMID:21885347|PMID:22445250|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24816003|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29386392|PMID:29402177|PMID:33158606 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1353141 D RGD:9068941 20200609 RGD PMID:17082220|REF_RGD_ID:5508419 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:8778 Crohn's disease ISO RGD:1353141 D RGD:9068941 20200609 RGD DNA:point mutation: :p.T2397M (rs3761863) (human) PMID:21983832|REF_RGD_ID:5508401 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:9000071 Signs and Symptoms ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:9001981 Weight Loss ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar atrophy PMID:18412265|PMID:18688798|PMID:18716801|PMID:18781329|PMID:19699188|PMID:20301387|PMID:20642453|PMID:21885347|PMID:25243190|PMID:26930193|PMID:28492532 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:1353141 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19741132 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:9008297 Motor Disorders ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:9008514 Psychomotor Disorders ISO RGD:1353141 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31174552 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:9255 frontotemporal dementia ISO RGD:1353141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 8778824 Lrrk2 leucine rich repeat kinase 2 gene DOID:9743 diabetic neuropathy ISO RGD:1561168 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:cerebellum, Purkinje cell PMID:24810053|REF_RGD_ID:13462056 8778879 Zfp57 ZFP57 zinc finger protein gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive PMID:18414213|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016 8778879 Zfp57 ZFP57 zinc finger protein gene DOID:11372 megacolon ISO RGD:1344217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8778879 Zfp57 ZFP57 zinc finger protein gene DOID:630 genetic disease ISO RGD:1344217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8778879 Zfp57 ZFP57 zinc finger protein gene DOID:9004783 Transient Neonatal Diabetes Mellitus, 1 ISO RGD:1344217 D RGD:7240710 20180130 OMIM 8778879 Zfp57 ZFP57 zinc finger protein gene DOID:9004783 Transient Neonatal Diabetes Mellitus, 1 ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 1 PMID:18197189|PMID:18414213|PMID:18622393|PMID:23499433|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016 8778879 Zfp57 ZFP57 zinc finger protein gene DOID:9351 diabetes mellitus ISO RGD:1344217 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:23748067|PMID:25741868|PMID:28492532|PMID:30315371|PMID:31064016 8778891 Slc26a6 solute carrier family 26 member 6 gene DOID:630 genetic disease ISO RGD:1320955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778891 Slc26a6 solute carrier family 26 member 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1320955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8778891 Slc26a6 solute carrier family 26 member 6 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1320955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8778891 Slc26a6 solute carrier family 26 member 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1320955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8778891 Slc26a6 solute carrier family 26 member 6 gene DOID:9004912 Hyperoxaluria ISO RGD:1320955 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hyperoxaluria PMID:25741868 8778922 Tmcc3 transmembrane and coiled-coil domain family 3 gene DOID:2661 myoepithelioma ISO RGD:1346901 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8778922 Tmcc3 transmembrane and coiled-coil domain family 3 gene DOID:630 genetic disease ISO RGD:1346901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778942 Itpk1 inositol-tetrakisphosphate 1-kinase gene DOID:0080054 achondrogenesis type IA ISO RGD:1312967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8778942 Itpk1 inositol-tetrakisphosphate 1-kinase gene DOID:630 genetic disease ISO RGD:1312967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8778942 Itpk1 inositol-tetrakisphosphate 1-kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1312967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8778957 Frmpd4 FERM and PDZ domain containing 4 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1353602 D RGD:7240710 20190315 OMIM 8778957 Frmpd4 FERM and PDZ domain containing 4 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1353602 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: FRMPD4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 PMID:25644381|PMID:25741868|PMID:26394714|PMID:28492532|PMID:29267967|PMID:29758562|PMID:35887114 8778957 Frmpd4 FERM and PDZ domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8778957 Frmpd4 FERM and PDZ domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4 PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311 8778957 Frmpd4 FERM and PDZ domain containing 4 gene DOID:630 genetic disease ISO RGD:1353602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19118189|PMID:25741868|PMID:28492532 8778957 Frmpd4 FERM and PDZ domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8778983 Anln anillin actin binding protein gene DOID:0080600 COVID-19 ISO RGD:1320339 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8778983 Anln anillin actin binding protein gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1320339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 8778983 Anln anillin actin binding protein gene DOID:0111133 focal segmental glomerulosclerosis 8 ISO RGD:1320339 D RGD:7240710 20180130 OMIM 8778983 Anln anillin actin binding protein gene DOID:0111133 focal segmental glomerulosclerosis 8 ISO RGD:1320339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANLN-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 PMID:24676636|PMID:25741868|PMID:28492532|PMID:29869118 8778983 Anln anillin actin binding protein gene DOID:11612 polycystic ovary syndrome ISO RGD:1320339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8778983 Anln anillin actin binding protein gene DOID:1184 nephrotic syndrome ISO RGD:1320339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 8778983 Anln anillin actin binding protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1320339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8778983 Anln anillin actin binding protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8778983 Anln anillin actin binding protein gene DOID:630 genetic disease ISO RGD:1320339 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28106320|PMID:28492532 8778983 Anln anillin actin binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:1320339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8778983 Anln anillin actin binding protein gene DOID:784 chronic kidney disease ISO RGD:1320339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 8779020 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1320359 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8779020 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 8779020 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0112097 nuclear type mitochondrial complex I deficiency 33 ISO RGD:1320359 D RGD:7240710 20190315 OMIM 8779020 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:0112097 nuclear type mitochondrial complex I deficiency 33 ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 PMID:25741868|PMID:28492532|PMID:30245030|PMID:30847515 8779020 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:1059 intellectual disability ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8779020 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:10652 Alzheimer's disease ISO RGD:1320359 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:26943237|REF_RGD_ID:11572212 8779020 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:630 genetic disease ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30245030|PMID:30847515 8779020 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:700 mitochondrial metabolism disease ISO RGD:1320359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:30245030|PMID:30847515 8779020 Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1320359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8779085 Lox lysyl oxidase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8779085 Lox lysyl oxidase gene DOID:0080685 aortic dissection ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 8779085 Lox lysyl oxidase gene DOID:10763 hypertension ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:24127|REF_RGD_ID:1581899 8779085 Lox lysyl oxidase gene DOID:10763 hypertension ISO RGD:736846 D RGD:9068941 20200609 RGD PMID:8562290|REF_RGD_ID:1581896 8779085 Lox lysyl oxidase gene DOID:12236 primary biliary cholangitis ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 8779085 Lox lysyl oxidase gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:736846 D RGD:9068941 20200609 RGD PMID:8638917|REF_RGD_ID:1581895 8779085 Lox lysyl oxidase gene DOID:14004 thoracic aortic aneurysm ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:34281165 8779085 Lox lysyl oxidase gene DOID:14004 thoracic aortic aneurysm ISO RGD:736846 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12417550|PMID:20929399|PMID:21612403|PMID:22722997|PMID:22911823|PMID:22948781|PMID:23758270|PMID:24033266|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939|PMID:34281165|PMID:8100215 8779085 Lox lysyl oxidase gene DOID:1838 Menkes disease ISO RGD:732343 D RGD:9068941 20220825 MouseDO OMIM:309400 8779085 Lox lysyl oxidase gene DOID:1838 Menkes disease ISO RGD:736846 D RGD:9068941 20200609 RGD PMID:8638917|REF_RGD_ID:1581895 8779085 Lox lysyl oxidase gene DOID:1883 hepatitis C ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 8779085 Lox lysyl oxidase gene DOID:1928 Williams-Beuren syndrome ISO RGD:732343 D RGD:9068941 20220825 MouseDO OMIM:194050 8779085 Lox lysyl oxidase gene DOID:2043 hepatitis B ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 8779085 Lox lysyl oxidase gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:736846 D RGD:9068941 20211112 RGD PMID:21282564|REF_RGD_ID:150520218 8779085 Lox lysyl oxidase gene DOID:2349 arteriosclerosis ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:24127|REF_RGD_ID:1581899 8779085 Lox lysyl oxidase gene DOID:3144 cutis laxa ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 8779085 Lox lysyl oxidase gene DOID:3347 osteosarcoma ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23886186 8779085 Lox lysyl oxidase gene DOID:3393 coronary artery disease ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:12393934|REF_RGD_ID:1581886 8779085 Lox lysyl oxidase gene DOID:3627 aortic aneurysm ISO RGD:732343 D RGD:9068941 20200609 RGD PMID:12417550|REF_RGD_ID:1581885 8779085 Lox lysyl oxidase gene DOID:4247 coronary restenosis ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:15218472|REF_RGD_ID:1581881 8779085 Lox lysyl oxidase gene DOID:5082 liver cirrhosis ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8779085 Lox lysyl oxidase gene DOID:57 aortic valve insufficiency ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 8779085 Lox lysyl oxidase gene DOID:5773 oral submucous fibrosis ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 8779085 Lox lysyl oxidase gene DOID:5844 myocardial infarction ISO RGD:732343 D RGD:9068941 20200609 RGD PMID:14553832|REF_RGD_ID:1581883 8779085 Lox lysyl oxidase gene DOID:630 genetic disease ISO RGD:736846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26838787|PMID:28492532|PMID:29961567 8779085 Lox lysyl oxidase gene DOID:6432 pulmonary hypertension ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614111 8779085 Lox lysyl oxidase gene DOID:65 connective tissue disease ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8779085 Lox lysyl oxidase gene DOID:7693 abdominal aortic aneurysm ISO RGD:3015 D RGD:9068941 20200609 RGD PMID:10965315|REF_RGD_ID:1581887 8779085 Lox lysyl oxidase gene DOID:893 Wilson disease ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 8779085 Lox lysyl oxidase gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:736846 D RGD:7240710 20190315 OMIM 8779085 Lox lysyl oxidase gene DOID:9000442 Familial Thoracic Aortic Aneurysm 10 ISO RGD:736846 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10 | ClinVar Annotator: match by term: LOX-Related Disorder | ClinVar Annotator: match by term: LOX-related disorders PMID:12417550|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25017124|PMID:25741868|PMID:26838787|PMID:27432961|PMID:28492532|PMID:29086201|PMID:29961567|PMID:30675029|PMID:31211624|PMID:31211696|PMID:31459939|PMID:31506931|PMID:32860008|PMID:33648514|PMID:34281165|PMID:9536098 8779085 Lox lysyl oxidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8779085 Lox lysyl oxidase gene DOID:9002884 Emphysema ISO RGD:736846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Emphysema PMID:25741868|PMID:28492532 8779085 Lox lysyl oxidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8779085 Lox lysyl oxidase gene DOID:9005883 Pleural Effusion ISO RGD:736846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868|PMID:28492532 8779085 Lox lysyl oxidase gene DOID:9007023 Prenatal Injuries ISO RGD:736846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20045017 8779085 Lox lysyl oxidase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8779085 Lox lysyl oxidase gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:736846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortic dissection | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:12417550|PMID:26838787|PMID:27432961|PMID:28492532|PMID:30675029|PMID:31211696|PMID:31459939 8779085 Lox lysyl oxidase gene DOID:9256 colorectal cancer severity ISO RGD:736846 D RGD:9068941 20211112 RGD PMID:21282564|REF_RGD_ID:150520218 8779085 Lox lysyl oxidase gene DOID:9675 pulmonary emphysema ISO RGD:736846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary emphysema PMID:25741868|PMID:28492532 8779097 Rnf146 ring finger protein 146 gene DOID:2256 osteochondrodysplasia ISO RGD:1552458 D RGD:9068941 20221020 MouseDO 8779097 Rnf146 ring finger protein 146 gene DOID:630 genetic disease ISO RGD:1315124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779097 Rnf146 ring finger protein 146 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1306482 D RGD:9068941 20200609 RGD PMID:28108258|REF_RGD_ID:13524865 8779107 Thnsl1 threonine synthase like 1 gene DOID:630 genetic disease ISO RGD:1343746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779129 Hdlbp high density lipoprotein binding protein gene DOID:0080600 COVID-19 ISO RGD:732166 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8779129 Hdlbp high density lipoprotein binding protein gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:732166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8779129 Hdlbp high density lipoprotein binding protein gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:732166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8779129 Hdlbp high density lipoprotein binding protein gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:732166 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8779129 Hdlbp high density lipoprotein binding protein gene DOID:1059 intellectual disability ISO RGD:732166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8779129 Hdlbp high density lipoprotein binding protein gene DOID:12849 autistic disorder ISO RGD:732166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 8779129 Hdlbp high density lipoprotein binding protein gene DOID:630 genetic disease ISO RGD:732166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779129 Hdlbp high density lipoprotein binding protein gene DOID:9000793 Fine-Lubinsky Syndrome ISO RGD:732166 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Fine-Lubinsky syndrome PMID:25741868 8779129 Hdlbp high density lipoprotein binding protein gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:732166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8779129 Hdlbp high density lipoprotein binding protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8779129 Hdlbp high density lipoprotein binding protein gene DOID:9008192 Neoplastic Processes ISO RGD:732166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25129143 8779170 Gata3 GATA binding protein 3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8779170 Gata3 GATA binding protein 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733638 D RGD:7240710 20180130 OMIM 8779170 Gata3 GATA binding protein 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733638 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:10935639|PMID:11389161|PMID:14985365|PMID:15705923|PMID:16199547|PMID:16912130|PMID:17210674|PMID:17309062|PMID:17576681|PMID:18621058|PMID:19057839|PMID:19248180|PMID:19253381|PMID:21120445|PMID:21242646|PMID:21834031|PMID:23052618|PMID:23142663|PMID:23435732|PMID:24033266|PMID:24728327|PMID:25137426|PMID:25741868|PMID:25741912|PMID:26282285|PMID:26316437|PMID:26467025|PMID:26514990|PMID:27387476|PMID:28492532|PMID:28566604|PMID:30143558|PMID:30311386|PMID:30396722|PMID:30534854|PMID:31433868|PMID:32442337|PMID:33120464|PMID:35802133|PMID:36633841|PMID:9536098 8779170 Gata3 GATA binding protein 3 gene DOID:0080205 CAKUT ISO RGD:733638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 8779170 Gata3 GATA binding protein 3 gene DOID:0080600 COVID-19 ISO RGD:733638 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8779170 Gata3 GATA binding protein 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24141364 8779170 Gata3 GATA binding protein 3 gene DOID:10003 sensorineural hearing loss ISO RGD:733638 D RGD:9068941 20200609 RGD HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 PMID:10935639|REF_RGD_ID:1358706 8779170 Gata3 GATA binding protein 3 gene DOID:11199 hypoparathyroidism ISO RGD:733638 D RGD:9068941 20200609 RGD HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 PMID:10935639|REF_RGD_ID:1358706 8779170 Gata3 GATA binding protein 3 gene DOID:2527 nephrosis ISO RGD:733638 D RGD:9068941 20200609 RGD HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 PMID:10935639|REF_RGD_ID:1358706 8779170 Gata3 GATA binding protein 3 gene DOID:2841 asthma ISO RGD:621250 D RGD:9068941 20200609 RGD PMID:18186587|REF_RGD_ID:5128803 8779170 Gata3 GATA binding protein 3 gene DOID:2841 asthma ISO RGD:733638 D RGD:9068941 20200609 RGD PMID:9949310|REF_RGD_ID:5128802 8779170 Gata3 GATA binding protein 3 gene DOID:305 carcinoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8779170 Gata3 GATA binding protein 3 gene DOID:630 genetic disease ISO RGD:733638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26514990|PMID:27387476|PMID:28492532 8779170 Gata3 GATA binding protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8779170 Gata3 GATA binding protein 3 gene DOID:769 neuroblastoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 8779170 Gata3 GATA binding protein 3 gene DOID:783 end stage renal disease ISO RGD:733638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:25741868 8779170 Gata3 GATA binding protein 3 gene DOID:8567 Hodgkin's lymphoma ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037568 8779170 Gata3 GATA binding protein 3 gene DOID:9000156 Metaplasia ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27315767 8779170 Gata3 GATA binding protein 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8779170 Gata3 GATA binding protein 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:621250 D RGD:9068941 20200609 RGD PMID:20118299|REF_RGD_ID:5128801 8779170 Gata3 GATA binding protein 3 gene DOID:9001371 Eosinophilia ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27315767 8779170 Gata3 GATA binding protein 3 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:621250 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen PMID:16336837|REF_RGD_ID:2314191 8779170 Gata3 GATA binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:25741912 8779170 Gata3 GATA binding protein 3 gene DOID:9004484 Sepsis severity ISO RGD:733638 D RGD:9068941 20200806 RGD PMID:25403265|REF_RGD_ID:38455982 8779170 Gata3 GATA binding protein 3 gene DOID:9004538 Hearing Loss ISO RGD:733638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 8779170 Gata3 GATA binding protein 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8779170 Gata3 GATA binding protein 3 gene DOID:9005372 Inflammation ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 8779170 Gata3 GATA binding protein 3 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:733638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 8779170 Gata3 GATA binding protein 3 gene DOID:9007702 Carcinogenesis ISO RGD:733638 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115686 8779170 Gata3 GATA binding protein 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733638 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115686 8779187 Otud1 OTU deubiquitinase 1 gene DOID:630 genetic disease ISO RGD:1344729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779191 Znf524 zinc finger protein 524 gene DOID:630 genetic disease ISO RGD:1351738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779196 Kcnn1 potassium calcium-activated channel subfamily N member 1 gene DOID:630 genetic disease ISO RGD:731634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779196 Kcnn1 potassium calcium-activated channel subfamily N member 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:731634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8779241 Fhad1 forkhead associated phosphopeptide binding domain 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605889 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8779241 Fhad1 forkhead associated phosphopeptide binding domain 1 gene DOID:630 genetic disease ISO RGD:1605889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779289 Ankfy1 ankyrin repeat and FYVE domain containing 1 gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1320022 D RGD:9068941 20220825 MouseDO OMIM:270550 8779289 Ankfy1 ankyrin repeat and FYVE domain containing 1 gene DOID:11054 urinary bladder cancer ISO RGD:1320021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8779289 Ankfy1 ankyrin repeat and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1320021 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8779319 Pcsk4 proprotein convertase subtilisin/kexin type 4 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1345180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8779319 Pcsk4 proprotein convertase subtilisin/kexin type 4 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1345180 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs1047854) C>T (human) PMID:27354594|REF_RGD_ID:152177496 8779319 Pcsk4 proprotein convertase subtilisin/kexin type 4 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8779319 Pcsk4 proprotein convertase subtilisin/kexin type 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1345180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8779319 Pcsk4 proprotein convertase subtilisin/kexin type 4 gene DOID:630 genetic disease ISO RGD:1345180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779319 Pcsk4 proprotein convertase subtilisin/kexin type 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8779337 Acvr1c activin A receptor type 1C gene DOID:0060041 autism spectrum disorder ISO RGD:734123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8779337 Acvr1c activin A receptor type 1C gene DOID:630 genetic disease ISO RGD:734123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779337 Acvr1c activin A receptor type 1C gene DOID:8466 retinal degeneration ISO RGD:621789 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8779337 Acvr1c activin A receptor type 1C gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:621789 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8779353 Mreg melanoregulin gene DOID:630 genetic disease ISO RGD:1604338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779353 Mreg melanoregulin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8779362 Fancd2os FANCD2 opposite strand gene DOID:0060474 familial erythrocytosis 2 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:10830910|PMID:17537157|PMID:19280651|PMID:19764026|PMID:20567917|PMID:28492532|PMID:8634692 8779362 Fancd2os FANCD2 opposite strand gene DOID:0111083 Fanconi anemia complementation group D2 ISO RGD:1603367 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D2 PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:23285130|PMID:23613520|PMID:24728327|PMID:25741868|PMID:25927356|PMID:28492532|PMID:29625052|PMID:30256826|PMID:31586946|PMID:32546565|PMID:32581362|PMID:34585473 8779362 Fancd2os FANCD2 opposite strand gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:25927356|PMID:28492532 8779362 Fancd2os FANCD2 opposite strand gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 8779362 Fancd2os FANCD2 opposite strand gene DOID:13636 Fanconi anemia ISO RGD:1603367 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:23285130|PMID:24728327|PMID:25741868|PMID:25927356|PMID:28492532|PMID:29625052|PMID:30250602|PMID:30256826|PMID:31586946|PMID:32546565|PMID:33270637|PMID:34585473|PMID:9536098 8779362 Fancd2os FANCD2 opposite strand gene DOID:2394 ovarian cancer ISO RGD:1603367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8779362 Fancd2os FANCD2 opposite strand gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603367 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 8779362 Fancd2os FANCD2 opposite strand gene DOID:630 genetic disease ISO RGD:1603367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11239453|PMID:17436244|PMID:25741868|PMID:28492532 8779362 Fancd2os FANCD2 opposite strand gene DOID:687 hepatoblastoma ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 8779362 Fancd2os FANCD2 opposite strand gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8779362 Fancd2os FANCD2 opposite strand gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1603367 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 8779362 Fancd2os FANCD2 opposite strand gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 8779362 Fancd2os FANCD2 opposite strand gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603367 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer PMID:25741868 8779362 Fancd2os FANCD2 opposite strand gene DOID:9008086 Developmental Disabilities ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25927356|PMID:28492532 8779362 Fancd2os FANCD2 opposite strand gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1603367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0014667 disease of metabolism ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19589179 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0050440 familial partial lipodystrophy ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19793595 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0050440 familial partial lipodystrophy ISO RGD:69169 D RGD:9068941 20220825 MouseDO OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24291733|REF_RGD_ID:8553040 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0050851 glomerulosclerosis treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:11318962|REF_RGD_ID:8553043 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69168 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:69169 D RGD:9068941 20220825 MouseDO 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0070204 familial partial lipodystrophy type 3 ISO RGD:69168 D RGD:7240710 20180912 OMIM 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0070204 familial partial lipodystrophy type 3 ISO RGD:69168 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:11788685|PMID:12453919|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:17299075|PMID:17356052|PMID:21479595|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:27749844|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:9467001|PMID:9792554 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69168 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0080322 polycystic kidney disease treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:21147840|REF_RGD_ID:14701037 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0080600 COVID-19 ISO RGD:69168 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0081120 Graves ophthalmopathy ISO RGD:69168 D RGD:9068941 20200609 RGD mRNA:increased expression:orbital fat (human) PMID:14588098|REF_RGD_ID:8552818 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17255338 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69168 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:69169 D RGD:9068941 20220825 MouseDO OMIM:269700 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:10591 pre-eclampsia ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:15562025|REF_RGD_ID:1580687 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:10591 pre-eclampsia ISO RGD:69168 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34995009 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:10652 Alzheimer's disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993441|PMID:16407166|PMID:30328325 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:10652 Alzheimer's disease no_association ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18573313|REF_RGD_ID:2301852 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.P12A(human) PMID:17440948|REF_RGD_ID:2311642 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:1074 kidney failure ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182703 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:15970297|PMID:18437150|REF_RGD_ID:1580684|REF_RGD_ID:2301888 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:3371 D RGD:9068941 20200609 RGD protein:decreased expression:rostral ventrolateral medulla (rat) PMID:20404217|REF_RGD_ID:7175297 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15199296|PMID:19666838|PMID:27292124 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:12923396|REF_RGD_ID:1580690 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:10763 hypertension ISO RGD:69168 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:18316027|REF_RGD_ID:2301864 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:11054 urinary bladder cancer ISO RGD:3371 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18712722|REF_RGD_ID:2301870 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:11382 corneal neovascularization treatment ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:17625041|REF_RGD_ID:8552895 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:11613 hyperandrogenism ISO RGD:3371 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary follicle (rat) PMID:20813360|REF_RGD_ID:8553031 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:11981 morbid obesity ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Morbid obesity PMID:10690291|PMID:25157153|PMID:28492532|PMID:9753710 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies; DNA:polymorphisms:exon:161C>T, p.P12A (human) PMID:18417957|REF_RGD_ID:2301860 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:12935 alcoholic cardiomyopathy ISO RGD:3371 D RGD:9068941 20200609 RGD protein:increased expression:heart myocardium PMID:18783396|REF_RGD_ID:2301868 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:12986 leukostasis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12468449 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:13207 proliferative diabetic retinopathy onset ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:18541841|REF_RGD_ID:2301854 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:snp:cds:p.P12A (rs1801282) (human) PMID:23559865|REF_RGD_ID:8552820 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human) PMID:19125195|REF_RGD_ID:8699508 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:14557 primary pulmonary hypertension ISO RGD:69169 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:1520 colon carcinoma ISO RGD:69168 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10394368|PMID:25741868 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:1561 cognitive disorder susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P12A (human) PMID:18639367|REF_RGD_ID:2301850 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:1793 pancreatic cancer ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11034103|PMID:11741176 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:1793 pancreatic cancer ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:19152448|REF_RGD_ID:2317462 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P12A (human) PMID:19436234|REF_RGD_ID:2317460 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:1909 melanoma ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14512786|PMID:28962521 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:1936 atherosclerosis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18269830 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:1936 atherosclerosis ISO RGD:69169 D RGD:9068941 20200609 RGD protein:increased expression:aortic sinus, endothelium (mouse) PMID:15779851|REF_RGD_ID:8552894 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:219 colon cancer ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:frameshift mutation:c.472delA (human) PMID:10394368|REF_RGD_ID:1601444 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:224 transient cerebral ischemia ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:18378216|PMID:18973594|PMID:19221220|REF_RGD_ID:2301866|REF_RGD_ID:2301892|REF_RGD_ID:8553032 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:2349 arteriosclerosis treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:15967870|REF_RGD_ID:8553041 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:2921 glomerulonephritis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11318962 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:2988 antiphospholipid syndrome ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182703 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:299 adenocarcinoma ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11034103 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:3021 acute kidney failure ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20623750|PMID:24011919|PMID:24433871 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:3021 acute kidney failure treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:17494862|REF_RGD_ID:8553020 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:3068 glioblastoma ISO RGD:69168 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glioblastoma, somatic PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:28492532|PMID:9467001 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:3070 high grade glioma ISO RGD:69168 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:28492532|PMID:9467001 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:326 ischemia ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12468449|PMID:24433871 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:3393 coronary artery disease ISO RGD:69168 D RGD:9068941 20200609 RGD protein:decreased expression:carotid artery, macrophage, smooth muscle cell (human) PMID:21709632|REF_RGD_ID:8552814 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:3407 carotid artery disease ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:15284449|REF_RGD_ID:1580688 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:19396032|REF_RGD_ID:2317461 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16809932 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:4989 pancreatitis ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:18583255|REF_RGD_ID:2301875 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:6000 congestive heart failure ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:630 genetic disease ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:684 hepatocellular carcinoma ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16374840 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:684 hepatocellular carcinoma severity ISO RGD:69168 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:27451128|REF_RGD_ID:14694822 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:783 end stage renal disease disease_progression ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.P12A (human) PMID:18467141|REF_RGD_ID:2301857 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:811 lipodystrophy ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:10622252|PMID:12663460|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:8398 osteoarthritis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:8778 Crohn's disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:8893 psoriasis ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10815854 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:8947 diabetic retinopathy ISO RGD:69169 D RGD:9068941 20200609 RGD Retinal Leukostasis;associated with Diabetes Mellitus, Experimental PMID:17003451|REF_RGD_ID:8552824 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20210794 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9000081 Lymphatic Metastasis ISO RGD:69168 D RGD:9068941 20200609 RGD associated with Cholangiocarcinoma;protein:increased expression:bile duct epithelium PMID:20021832|REF_RGD_ID:2317459 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9000173 Eye Burns ISO RGD:3371 D RGD:9068941 20200609 RGD protein:increased expression:cornea, neutrophil, macrophage (rat) PMID:24194635|REF_RGD_ID:8552904 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9000217 Stomach Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15492468|PMID:19140230 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29162556 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9000641 Pain ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:18387855|REF_RGD_ID:2301890 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9000784 Fibrosis ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Hypertension PMID:18360056|REF_RGD_ID:2301893 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9000784 Fibrosis ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:18511847|REF_RGD_ID:2301856 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:3371 D RGD:9068941 20230720 RGD associated with hypertension, periodontal disease PMID:33364953|REF_RGD_ID:329956421 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:18594976|REF_RGD_ID:2301874 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:22529699|REF_RGD_ID:8553190 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:69168 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:16221712|REF_RGD_ID:13208600 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18388116|REF_RGD_ID:2301862 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182703 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:18780770|REF_RGD_ID:2301845 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9002231 Fetal Growth Retardation ISO RGD:3371 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:21425435|REF_RGD_ID:8552971 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:3371 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:15167281|REF_RGD_ID:8553039 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:69169 D RGD:9068941 20200609 RGD protein:decreased expression:retina (mouse) PMID:18806296|REF_RGD_ID:2301844 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9002928 Colonic Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20540935 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9002955 Nerve Degeneration ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18289512 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9003370 Dyslipidemias ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69168 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal mucosa (human) PMID:17116814|REF_RGD_ID:8552811 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9004009 Reperfusion Injury ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12468449|PMID:24011919|PMID:24433871 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9004547 Thyroid Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15785241 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9004610 Acute Lung Injury ISO RGD:3371 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:16083301|REF_RGD_ID:8553030 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9004610 Acute Lung Injury ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21153920 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Hypertension PMID:18360056|REF_RGD_ID:2301893 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9004980 Chronobiology Disorders ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22899986 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9005372 Inflammation ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:18479673|REF_RGD_ID:2301881 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9005372 Inflammation ISO RGD:3371 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:18455351|REF_RGD_ID:2301886 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9005372 Inflammation ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19926821|PMID:21354099 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3371 D RGD:9068941 20200609 RGD mRNA:altered expression:aorta, kidney cortex, retina PMID:18641696|REF_RGD_ID:2301849 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12967931|PMID:16123366|PMID:21757225 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69169 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18806296|REF_RGD_ID:2301844 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9005782 Carotid Intimal Medial Thickness 1 ISO RGD:69168 D RGD:7240710 20180130 OMIM 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9005782 Carotid Intimal Medial Thickness 1 ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carotid intimal medial thickness 1 PMID:25741868|PMID:27749844 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9005930 Endotoxemia ISO RGD:3371 D RGD:9068941 20200609 RGD protein:increased expression:small intestine mucosa PMID:21641970|REF_RGD_ID:5135029 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:69169 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:19339015|REF_RGD_ID:8553019 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9006447 Eye Injuries treatment ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:18658087|REF_RGD_ID:8552893 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15785241 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9006646 Metabolic Syndrome ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:16183630|REF_RGD_ID:1580683 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9006646 Metabolic Syndrome ISO RGD:69168 D RGD:9068941 20200609 RGD PMID:16186413|REF_RGD_ID:1580686 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:69169 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9006646 Metabolic Syndrome no_association ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:SNP: :p.P12A (human) PMID:18959602|REF_RGD_ID:2301843 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9007188 Liver Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20143881 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69169 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:26599535|REF_RGD_ID:11554658 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9007692 Insulin Resistance ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052|PMID:21354099|PMID:21484566 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9007692 Insulin Resistance ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:12118251|REF_RGD_ID:1601446 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69169 D RGD:9068941 20200609 RGD PMID:18562925|REF_RGD_ID:2301853 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9008443 Colorectal Neoplasms ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489531 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:69169 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9206 Barrett's esophagus ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9351 diabetes mellitus ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:19748282|PMID:25741868|PMID:27749844|PMID:28492532 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:7240710 20180130 OMIM 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:snp:cds:p.P12A (human) PMID:9918859|REF_RGD_ID:8552822 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.P12A (human) PMID:18598350|REF_RGD_ID:2301851 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9452 steatotic liver disease ISO RGD:3371 D RGD:9068941 20200609 RGD PMID:15112352|REF_RGD_ID:1580685 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9452 steatotic liver disease treatment ISO RGD:3371 D RGD:9068941 20240201 RGD PMID:30298849|REF_RGD_ID:401960083 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9455 lipid storage disease ISO RGD:69168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21123845 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:7240710 20180130 OMIM 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9970 obesity ISO RGD:69168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9970 obesity susceptibility ISO RGD:69168 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:18683148|REF_RGD_ID:2301847 8779373 Pparg peroxisome proliferator activated receptor gamma gene DOID:9970 obesity treatment ISO RGD:3371 D RGD:9068941 20240201 RGD PMID:30298849|REF_RGD_ID:401960083 8779392 Gosr2 golgi SNAP receptor complex member 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:731739 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:35802133|PMID:37074134 8779392 Gosr2 golgi SNAP receptor complex member 2 gene DOID:0060224 atrial fibrillation ISO RGD:731739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8779392 Gosr2 golgi SNAP receptor complex member 2 gene DOID:0111449 progressive myoclonus epilepsy 6 ISO RGD:731739 D RGD:7240710 20180130 OMIM 8779392 Gosr2 golgi SNAP receptor complex member 2 gene DOID:0111449 progressive myoclonus epilepsy 6 ISO RGD:731739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 PMID:16199547|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315|PMID:34167170 8779392 Gosr2 golgi SNAP receptor complex member 2 gene DOID:630 genetic disease ISO RGD:731739 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8779392 Gosr2 golgi SNAP receptor complex member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29855340|PMID:33639315|PMID:9536098 8779392 Gosr2 golgi SNAP receptor complex member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:30363482|PMID:33639315|PMID:9536098 8779392 Gosr2 golgi SNAP receptor complex member 2 gene DOID:9003754 MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES ISO RGD:731739 D RGD:7240710 20230301 OMIM 8779392 Gosr2 golgi SNAP receptor complex member 2 gene DOID:9003754 MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES ISO RGD:731739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with or without seizures PMID:16199547|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315|PMID:34167170 8779392 Gosr2 golgi SNAP receptor complex member 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:731739 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:21549339|PMID:25741868|PMID:28492532 8779392 Gosr2 golgi SNAP receptor complex member 2 gene DOID:9884 muscular dystrophy ISO RGD:731739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:21549339|PMID:23449775|PMID:24458321|PMID:25741868|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315 8779405 Snx7 sorting nexin 7 gene DOID:630 genetic disease ISO RGD:1313530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779405 Snx7 sorting nexin 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8779454 Garem1 GRB2 associated regulator of MAPK1 subtype 1 gene DOID:1059 intellectual disability ISO RGD:1342843 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8779454 Garem1 GRB2 associated regulator of MAPK1 subtype 1 gene DOID:630 genetic disease ISO RGD:1342843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:0050868 hepatocellular adenoma ISO RGD:2004 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:15509519|REF_RGD_ID:1358261 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:0050868 hepatocellular adenoma ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15509519 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:0080600 COVID-19 ISO RGD:735738 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:0080600 COVID-19 severity ISO RGD:735738 D RGD:9068941 20200813 RGD DNA:SNPs: : PMID:32747830|REF_RGD_ID:38500238 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:10113 trypanosomiasis ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:17722867|REF_RGD_ID:10046041 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease ISO RGD:735738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM PMID:1370808|PMID:15023809|PMID:1717945|PMID:24033266|PMID:9697696|PMID:9811940 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease no_association ISO RGD:735738 D RGD:9068941 20200609 RGD PMID:10319853|REF_RGD_ID:1300322 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease no_association ISO RGD:735738 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I1000V (human) PMID:10936700|REF_RGD_ID:10046015 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease no_association ISO RGD:735738 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:12966032|REF_RGD_ID:10046016 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:10652 Alzheimer's disease onset ISO RGD:735738 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I1000V (human) PMID:12133586|REF_RGD_ID:10046014 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:10754 otitis media treatment IEP D RGD:11553864|PMID:2473673 20161014 RGD 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:10754 otitis media treatment IEP D RGD:11553918|PMID:2459981 20161017 RGD 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:10976 membranous glomerulonephritis ISO RGD:2004 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9453001|REF_RGD_ID:10046046 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:11372 megacolon ISO RGD:735738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:114 heart disease ISO RGD:735738 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:serum PMID:20005173|REF_RGD_ID:10046031 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:11506 suppurative otitis media IEP D RGD:11556250|PMID:1696441 20161101 RGD 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:1184 nephrotic syndrome ISO RGD:2004 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9453001|REF_RGD_ID:10046046 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:1184 nephrotic syndrome ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304663 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:13208 background diabetic retinopathy treatment ISO RGD:735738 D RGD:9068941 20200609 RGD PMID:10848441|REF_RGD_ID:10046010 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:14115 toxic shock syndrome treatment ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:2424486|REF_RGD_ID:10046036 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:14330 Parkinson's disease onset ISO RGD:735738 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I1000V (human) PMID:12133586|REF_RGD_ID:10046014 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:2320 obstructive lung disease ISO RGD:735738 D RGD:9068941 20200609 RGD PMID:2475424|REF_RGD_ID:1300321 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:2377 multiple sclerosis ISO RGD:735738 D RGD:9068941 20200609 RGD PMID:11498265|REF_RGD_ID:1549857 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:3021 acute kidney failure ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:3526 cerebral infarction disease_progression ISO RGD:735738 D RGD:9068941 20200609 RGD PMID:28266892|REF_RGD_ID:13702087 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:5082 liver cirrhosis ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:583 hemolytic anemia ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:11952820|REF_RGD_ID:704364 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:630 genetic disease ISO RGD:735738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:684 hepatocellular carcinoma ISO RGD:2004 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:15509519|REF_RGD_ID:1358261 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:684 hepatocellular carcinoma ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15509519 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:8283 peritonitis ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:16538883|REF_RGD_ID:1598512 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:850 lung disease ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2475424 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:893 Wilson disease ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9000972 Fever ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:2460123|REF_RGD_ID:10046042 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9002457 Experimental Arthritis ISO RGD:2004 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:6163339|REF_RGD_ID:10046032 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:1710603|REF_RGD_ID:10046021 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9002928 Colonic Neoplasms ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9003049 Femur Head Necrosis ISO RGD:2004 D RGD:9068941 20200609 RGD mRNA:increased expression:head of femur PMID:20579363|REF_RGD_ID:10046018 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9003936 Cardiomegaly ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:12494268|REF_RGD_ID:1549856 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9004484 Sepsis ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:9843780|REF_RGD_ID:1598509 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9004484 Sepsis ISO RGD:2004 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15167684|REF_RGD_ID:10046033 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9005172 Lung Neoplasms ISO RGD:735738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17902193|PMID:19180532 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9005372 Inflammation ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:6202298|REF_RGD_ID:10046045 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2004 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21742475|REF_RGD_ID:10046044 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9007271 Hypoalbuminemia ISO RGD:2004 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9453001|REF_RGD_ID:10046046 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9007730 Burns ISO RGD:2004 D RGD:9068941 20200609 RGD PMID:14960360|REF_RGD_ID:1598513 8779469 LOC102021956 alpha-2-macroglobulin gene DOID:9008821 Otitis Media with Effusion IEP D RGD:11560528|PMID:2454602 20161109 RGD 8779520 Usf2 upstream transcription factor 2, c-fos interacting gene DOID:0110222 Brugada syndrome 5 ISO RGD:734370 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8779520 Usf2 upstream transcription factor 2, c-fos interacting gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8779520 Usf2 upstream transcription factor 2, c-fos interacting gene DOID:10283 prostate cancer ISO RGD:734370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8779520 Usf2 upstream transcription factor 2, c-fos interacting gene DOID:543 dystonia ISO RGD:734370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8779520 Usf2 upstream transcription factor 2, c-fos interacting gene DOID:630 genetic disease ISO RGD:734370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779533 Glod5 glyoxalase domain containing 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8779533 Glod5 glyoxalase domain containing 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8779533 Glod5 glyoxalase domain containing 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8779533 Glod5 glyoxalase domain containing 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8779533 Glod5 glyoxalase domain containing 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8779533 Glod5 glyoxalase domain containing 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8779533 Glod5 glyoxalase domain containing 5 gene DOID:12849 autistic disorder ISO RGD:1603816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8779533 Glod5 glyoxalase domain containing 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603816 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 8779533 Glod5 glyoxalase domain containing 5 gene DOID:630 genetic disease ISO RGD:1603816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779541 Commd6 COMM domain containing 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1606132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8779541 Commd6 COMM domain containing 6 gene DOID:630 genetic disease ISO RGD:1606132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779551 Pno1 partner of NOB1 homolog gene DOID:630 genetic disease ISO RGD:1604334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779562 Ltn1 listerin E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1322590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779562 Ltn1 listerin E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8779601 Rsph10b radial spoke head 10 homolog B gene DOID:0070271 Lynch syndrome 1 ISO RGD:1605260 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 8779601 Rsph10b radial spoke head 10 homolog B gene DOID:3883 Lynch syndrome ISO RGD:1605260 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:10037723|PMID:16338176|PMID:20533529|PMID:21618646|PMID:24440087|PMID:26318770|PMID:28492532 8779601 Rsph10b radial spoke head 10 homolog B gene DOID:630 genetic disease ISO RGD:1605260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779633 Arhgap30 Rho GTPase activating protein 30 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8779633 Arhgap30 Rho GTPase activating protein 30 gene DOID:11612 polycystic ovary syndrome ISO RGD:1604190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8779633 Arhgap30 Rho GTPase activating protein 30 gene DOID:1540 parathyroid carcinoma ISO RGD:1604190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8779633 Arhgap30 Rho GTPase activating protein 30 gene DOID:630 genetic disease ISO RGD:1604190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779633 Arhgap30 Rho GTPase activating protein 30 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8779633 Arhgap30 Rho GTPase activating protein 30 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8779660 Med13l mediator complex subunit 13L gene DOID:0060041 autism spectrum disorder ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8779660 Med13l mediator complex subunit 13L gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1314183 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped PMID:14638541|PMID:16199547|PMID:17576681|PMID:23403903|PMID:24267886|PMID:24781760|PMID:24896178|PMID:25137640|PMID:25167861|PMID:25356899|PMID:25712080|PMID:25741868|PMID:25741884|PMID:25758992|PMID:27824329|PMID:27899622|PMID:28371282|PMID:28492532|PMID:28554332|PMID:28588821|PMID:28645799|PMID:29159987|PMID:29511999|PMID:29959045|PMID:30564305|PMID:31144778|PMID:31785789|PMID:5167861|PMID:9536098 8779660 Med13l mediator complex subunit 13L gene DOID:1059 intellectual disability ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23403903|PMID:25167861|PMID:25741868|PMID:28492532|PMID:29511999 8779660 Med13l mediator complex subunit 13L gene DOID:540 strabismus ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 8779660 Med13l mediator complex subunit 13L gene DOID:630 genetic disease ISO RGD:1314183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12738880|PMID:14638541|PMID:23403903|PMID:24267886|PMID:24781760|PMID:24896178|PMID:25137640|PMID:25167861|PMID:25356899|PMID:25712080|PMID:25741868|PMID:25758992|PMID:27899622|PMID:28371282|PMID:28492532|PMID:28588821|PMID:28645799|PMID:29159987|PMID:29511999|PMID:5167861 8779660 Med13l mediator complex subunit 13L gene DOID:9003837 Au-Kline Syndrome ISO RGD:1314183 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Kabuki-like syndrome PMID:25741868 8779660 Med13l mediator complex subunit 13L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314183 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25712080|PMID:25741868|PMID:25758992|PMID:28492532|PMID:29959045 8779660 Med13l mediator complex subunit 13L gene DOID:9006001 Mental Retardation and Distinctive Facial Features with or without Cardiac Defects ISO RGD:1314183 D RGD:7240710 20190315 OMIM 8779660 Med13l mediator complex subunit 13L gene DOID:9006001 Mental Retardation and Distinctive Facial Features with or without Cardiac Defects ISO RGD:1314183 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac anomalies - developmental delay - facial dysmorphism syndrome | ClinVar Annotator: match by term: Impaired intellectual development and distinctive facial features with cardiac defects | ClinVar Annotator: match by term: MED13L-Related Disorder | ClinVar Annotator: match by term: MED13L-related condition PMID:14638541|PMID:17576681|PMID:22542183|PMID:24781760|PMID:24896178|PMID:25167861|PMID:25712080|PMID:25741868|PMID:25741869|PMID:25758992|PMID:28492532|PMID:28554332|PMID:28645799|PMID:28708303|PMID:29511999|PMID:30504930|PMID:31785789|PMID:35887114|PMID:9536098 8779660 Med13l mediator complex subunit 13L gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8779660 Med13l mediator complex subunit 13L gene DOID:9008086 Developmental Disabilities ISO RGD:1314183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25712080|PMID:25741868|PMID:25741884|PMID:25758992|PMID:28492532|PMID:31785789 8779660 Med13l mediator complex subunit 13L gene DOID:9620 vesicoureteral reflux ISO RGD:1314183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesico-Ureteral Reflux PMID:25741868 8779708 Cdc42bpg CDC42 binding protein kinase gamma gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8779708 Cdc42bpg CDC42 binding protein kinase gamma gene DOID:1059 intellectual disability ISO RGD:1350948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8779708 Cdc42bpg CDC42 binding protein kinase gamma gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8779708 Cdc42bpg CDC42 binding protein kinase gamma gene DOID:2746 glycogen storage disease V ISO RGD:1350948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8779708 Cdc42bpg CDC42 binding protein kinase gamma gene DOID:3070 high grade glioma ISO RGD:1350948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8779708 Cdc42bpg CDC42 binding protein kinase gamma gene DOID:630 genetic disease ISO RGD:1350948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779755 Rps3 ribosomal protein S3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:736568 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8779755 Rps3 ribosomal protein S3 gene DOID:1059 intellectual disability ISO RGD:736568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8779755 Rps3 ribosomal protein S3 gene DOID:1909 melanoma ISO RGD:736568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8779755 Rps3 ribosomal protein S3 gene DOID:630 genetic disease ISO RGD:736568 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779755 Rps3 ribosomal protein S3 gene DOID:9003882 Chromosomal Instability ISO RGD:736568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25341047 8779766 Bag2 BAG cochaperone 2 gene DOID:0060234 Carpenter syndrome ISO RGD:1343744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome 8779766 Bag2 BAG cochaperone 2 gene DOID:630 genetic disease ISO RGD:1343744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779766 Bag2 BAG cochaperone 2 gene DOID:9005101 Carpenter Syndrome 1 ISO RGD:1343744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 1 8779779 Mael maelstrom spermatogenic transposon silencer gene DOID:1540 parathyroid carcinoma ISO RGD:1605917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8779779 Mael maelstrom spermatogenic transposon silencer gene DOID:630 genetic disease ISO RGD:1605917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779779 Mael maelstrom spermatogenic transposon silencer gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8779795 Smad9 SMAD family member 9 gene DOID:10283 prostate cancer ISO RGD:1350114 D RGD:9068941 20200609 RGD protein:altered localization PMID:15042598|REF_RGD_ID:2299981 8779795 Smad9 SMAD family member 9 gene DOID:1324 lung cancer ISO RGD:1350114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465803|PMID:26253951 8779795 Smad9 SMAD family member 9 gene DOID:14557 primary pulmonary hypertension ISO RGD:1350114 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8779795 Smad9 SMAD family member 9 gene DOID:630 genetic disease ISO RGD:1350114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8779795 Smad9 SMAD family member 9 gene DOID:6432 pulmonary hypertension ISO RGD:71004 D RGD:9068941 20200609 RGD PMID:17347486|REF_RGD_ID:1643222 8779795 Smad9 SMAD family member 9 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1350114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:28492532|PMID:30029678 8779795 Smad9 SMAD family member 9 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:71004 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 8779795 Smad9 SMAD family member 9 gene DOID:9003493 Primary Pulmonary Hypertension, 2 ISO RGD:1350114 D RGD:7240710 20180130 OMIM 8779795 Smad9 SMAD family member 9 gene DOID:9003493 Primary Pulmonary Hypertension, 2 ISO RGD:1350114 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 2 PMID:16199547|PMID:17576681|PMID:19211612|PMID:19419974|PMID:21898662|PMID:21920918|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29631995|PMID:29650961|PMID:30029678|PMID:31727138|PMID:9536098 8779795 Smad9 SMAD family member 9 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8779795 Smad9 SMAD family member 9 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1350114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 8779811 Slc25a51 solute carrier family 25 member 51 gene DOID:630 genetic disease ISO RGD:1313070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779832 Fbxo40 F-box protein 40 gene DOID:12849 autistic disorder ISO RGD:1320304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404257 8779832 Fbxo40 F-box protein 40 gene DOID:630 genetic disease ISO RGD:1320304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779832 Fbxo40 F-box protein 40 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8779832 Fbxo40 F-box protein 40 gene DOID:9270 alkaptonuria ISO RGD:1320304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8779843 Maml1 mastermind like transcriptional coactivator 1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1318517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 8779843 Maml1 mastermind like transcriptional coactivator 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1318517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8779843 Maml1 mastermind like transcriptional coactivator 1 gene DOID:10283 prostate cancer ISO RGD:1318517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8779843 Maml1 mastermind like transcriptional coactivator 1 gene DOID:14748 Sotos syndrome ISO RGD:1318517 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8779843 Maml1 mastermind like transcriptional coactivator 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1318518 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 8779843 Maml1 mastermind like transcriptional coactivator 1 gene DOID:630 genetic disease ISO RGD:1318517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779851 Pdcd2l programmed cell death 2 like gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1601844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8779851 Pdcd2l programmed cell death 2 like gene DOID:630 genetic disease ISO RGD:1601844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779866 Supt7l SPT7 like, STAGA complex subunit gamma gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8779866 Supt7l SPT7 like, STAGA complex subunit gamma gene DOID:630 genetic disease ISO RGD:1602227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779879 Mrpl54 mitochondrial ribosomal protein L54 gene DOID:13938 amenorrhea ISO RGD:1313872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8779879 Mrpl54 mitochondrial ribosomal protein L54 gene DOID:630 genetic disease ISO RGD:1313872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779886 Dmrt3 doublesex and mab-3 related transcription factor 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1314434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8779886 Dmrt3 doublesex and mab-3 related transcription factor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1314434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8779886 Dmrt3 doublesex and mab-3 related transcription factor 3 gene DOID:630 genetic disease ISO RGD:1314434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779892 Nup98 nucleoporin 98 and 96 precursor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8779892 Nup98 nucleoporin 98 and 96 precursor gene DOID:0080773 delta beta-thalassemia ISO RGD:733793 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8779892 Nup98 nucleoporin 98 and 96 precursor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8779892 Nup98 nucleoporin 98 and 96 precursor gene DOID:10487 Hirschsprung's disease ISO RGD:733793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8779892 Nup98 nucleoporin 98 and 96 precursor gene DOID:1227 neutropenia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8779892 Nup98 nucleoporin 98 and 96 precursor gene DOID:2355 anemia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8779892 Nup98 nucleoporin 98 and 96 precursor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733793 D RGD:9068941 20200609 RGD DNA:translocation:cds: (human) PMID:10477737|REF_RGD_ID:9693698 8779892 Nup98 nucleoporin 98 and 96 precursor gene DOID:614 lymphopenia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8779892 Nup98 nucleoporin 98 and 96 precursor gene DOID:630 genetic disease ISO RGD:733793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779892 Nup98 nucleoporin 98 and 96 precursor gene DOID:9000647 Acute Erythroleukemia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 8779892 Nup98 nucleoporin 98 and 96 precursor gene DOID:9119 acute myeloid leukemia ISO RGD:733793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 8779950 LOC102010839 cytochrome P450 2S1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314487 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8779950 LOC102010839 cytochrome P450 2S1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8779950 LOC102010839 cytochrome P450 2S1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8779950 LOC102010839 cytochrome P450 2S1 gene DOID:2340 craniosynostosis ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8779950 LOC102010839 cytochrome P450 2S1 gene DOID:630 genetic disease ISO RGD:1314487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779950 LOC102010839 cytochrome P450 2S1 gene DOID:8893 psoriasis ISO RGD:1314487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12711469 8779950 LOC102010839 cytochrome P450 2S1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8779950 LOC102010839 cytochrome P450 2S1 gene DOID:9269 maple syrup urine disease ISO RGD:1314487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8779964 Cpe carboxypeptidase E gene DOID:11981 morbid obesity ISO RGD:732381 D RGD:9068941 20200609 RGD mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects PMID:12530526|REF_RGD_ID:1626182 8779964 Cpe carboxypeptidase E gene DOID:28 endocrine system disease ISO RGD:732381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15358678 8779964 Cpe carboxypeptidase E gene DOID:630 genetic disease ISO RGD:732381 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8779964 Cpe carboxypeptidase E gene DOID:9002420 BDV Syndrome ISO RGD:732381 D RGD:7240710 20210818 OMIM 8779964 Cpe carboxypeptidase E gene DOID:9002420 BDV Syndrome ISO RGD:732381 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME | ClinVar Annotator: match by term: CPE-related condition PMID:25741868|PMID:26120850|PMID:28492532|PMID:34383079 8779964 Cpe carboxypeptidase E gene DOID:9005172 Lung Neoplasms ISO RGD:732381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8779964 Cpe carboxypeptidase E gene DOID:9007692 Insulin Resistance ISO RGD:732381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15358678 8779964 Cpe carboxypeptidase E gene DOID:9008023 Memory Disorders ISO RGD:732382 D RGD:9068941 20200609 RGD PMID:18570185|REF_RGD_ID:6483325 8779964 Cpe carboxypeptidase E gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732381 D RGD:9068941 20200609 RGD no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients PMID:9662053|REF_RGD_ID:1626184 8779964 Cpe carboxypeptidase E gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:732381 D RGD:9068941 20200609 RGD DNA:SNP:CDS:847C>T, amino acid R283W; earlier age of onset in heterozygotes in an four Ashkenazi families PMID:11462236|REF_RGD_ID:1626183 8779964 Cpe carboxypeptidase E gene DOID:9970 obesity ISO RGD:732381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15358678|PMID:23434795 8779964 Cpe carboxypeptidase E gene DOID:9970 obesity ISO RGD:732382 D RGD:9068941 20200609 RGD DNA:transition:CDS:729T>C, amino acid S202P; decreased activity results in decrease in processing of proinsulin PMID:7663508|REF_RGD_ID:1626181 8779964 Cpe carboxypeptidase E gene DOID:9970 obesity ISO RGD:732382 D RGD:9068941 20220825 MouseDO OMIM:601665 8779964 Cpe carboxypeptidase E gene DOID:9970 obesity no_association ISO RGD:732381 D RGD:9068941 20200609 RGD no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients PMID:9662053|REF_RGD_ID:1626184 8779981 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:1606201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 PMID:28492532 8779981 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:0080686 tubular aggregate myopathy 2 ISO RGD:1606201 D RGD:7240710 20200619 OMIM 8779981 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:0080686 tubular aggregate myopathy 2 ISO RGD:1606201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 2 | ClinVar Annotator: match by term: ORAI1-related condition PMID:15452313|PMID:24591628|PMID:25227914|PMID:25741868|PMID:27882542|PMID:28492532|PMID:30382595 8779981 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:0111976 immunodeficiency 9 ISO RGD:1606201 D RGD:7240710 20180130 OMIM 8779981 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:0111976 immunodeficiency 9 ISO RGD:1606201 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency PMID:16582901|PMID:18187424|PMID:19182790|PMID:20004786|PMID:23447534|PMID:23613525|PMID:23943619|PMID:24033266|PMID:25227914|PMID:25741868|PMID:26070885|PMID:26138675|PMID:26546674|PMID:26576490|PMID:26809793|PMID:27063589|PMID:27066545|PMID:28058752|PMID:28492532|PMID:29155098|PMID:29184031|PMID:30243034|PMID:30382595|PMID:30831274|PMID:31036819|PMID:33361160|PMID:7531512|PMID:7798233|PMID:8814256 8779981 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:10763 hypertension ISO RGD:1606201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19897708 8779981 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:422 congenital structural myopathy ISO RGD:1606201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8779981 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:630 genetic disease ISO RGD:1606201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8779981 Orai1 ORAI calcium release-activated calcium modulator 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1606201 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 8779990 Fubp1 far upstream element binding protein 1 gene DOID:0050865 tongue squamous cell carcinoma exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:tongue (human) PMID:32339054|REF_RGD_ID:151361191 8779990 Fubp1 far upstream element binding protein 1 gene DOID:0080199 colorectal carcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:colorectum (human) PMID:25030436|REF_RGD_ID:151361190 8779990 Fubp1 far upstream element binding protein 1 gene DOID:0081292 traumatic brain injury ISO RGD:1591892 D RGD:9068941 20200609 RGD PMID:23797733|REF_RGD_ID:13673879 8779990 Fubp1 far upstream element binding protein 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1344155 D RGD:9068941 20220324 RGD mRNA:increased expression:stomach (human) PMID:24192769|REF_RGD_ID:151665342 8779990 Fubp1 far upstream element binding protein 1 gene DOID:10534 stomach cancer treatment ISO RGD:1344155 D RGD:9068941 20220303 RGD PMID:28667493|REF_RGD_ID:151361189 8779990 Fubp1 far upstream element binding protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1591892 D RGD:9068941 20200609 RGD PMID:23939805|REF_RGD_ID:13673880 8779990 Fubp1 far upstream element binding protein 1 gene DOID:1612 breast cancer exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD protein:increased expression:breast (human) PMID:27157613|REF_RGD_ID:151361193 8779990 Fubp1 far upstream element binding protein 1 gene DOID:2152 ovary epithelial cancer ISO RGD:1344155 D RGD:9068941 20220303 RGD protein:increased expression:epithelium of female gonad (human) PMID:30008853|REF_RGD_ID:151361195 8779990 Fubp1 far upstream element binding protein 1 gene DOID:2152 ovary epithelial cancer exacerbates ISO RGD:1344155 D RGD:9068941 20220317 RGD protein:increased expression:epithelium of female gonad (human) PMID:29113212|REF_RGD_ID:151665180 8779990 Fubp1 far upstream element binding protein 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1344155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8779990 Fubp1 far upstream element binding protein 1 gene DOID:3069 malignant astrocytoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:brain (human) PMID:32481602|REF_RGD_ID:151361197 8779990 Fubp1 far upstream element binding protein 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:pancreatic duct (human) PMID:32481602|REF_RGD_ID:151361197 8779990 Fubp1 far upstream element binding protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:esophagus (human) PMID:32481602|REF_RGD_ID:151361197 8779990 Fubp1 far upstream element binding protein 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD protein:increased expression:esophagus (human) PMID:26490982|REF_RGD_ID:151361192 8779990 Fubp1 far upstream element binding protein 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:32481602|REF_RGD_ID:151361197 8779990 Fubp1 far upstream element binding protein 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:32481602|REF_RGD_ID:151361197 8779990 Fubp1 far upstream element binding protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1344155 D RGD:9068941 20220303 RGD associated with Chronic Hepatitis C;mRNA:increased expression:liver (human) PMID:25995247|REF_RGD_ID:151361196 8779990 Fubp1 far upstream element binding protein 1 gene DOID:630 genetic disease ISO RGD:1344155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8779990 Fubp1 far upstream element binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344155 D RGD:9068941 20220303 RGD associated with Chronic Hepatitis C;mRNA:increased expression:liver (human) PMID:25995247|REF_RGD_ID:151361196 8779990 Fubp1 far upstream element binding protein 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1344155 D RGD:9068941 20220303 RGD human cell line in a mouse model PMID:19637194|REF_RGD_ID:151361194 8779990 Fubp1 far upstream element binding protein 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:liver (human) PMID:31587040|REF_RGD_ID:151361188 8779990 Fubp1 far upstream element binding protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1344155 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35915169 8779990 Fubp1 far upstream element binding protein 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1344155 D RGD:9068941 20220303 RGD mRNA:increased expression:oral cavity (human) PMID:32481602|REF_RGD_ID:151361197 8779990 Fubp1 far upstream element binding protein 1 gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:1344155 D RGD:9068941 20220303 RGD protein:increased expression:nasopharynx (human) PMID:26469968|REF_RGD_ID:11343512 8780048 Acsf2 acyl-CoA synthetase family member 2 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1604594 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868 8780048 Acsf2 acyl-CoA synthetase family member 2 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1604594 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8780048 Acsf2 acyl-CoA synthetase family member 2 gene DOID:630 genetic disease ISO RGD:1604594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780071 Lrfn5 leucine rich repeat and fibronectin type III domain containing 5 gene DOID:630 genetic disease ISO RGD:1319662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780071 Lrfn5 leucine rich repeat and fibronectin type III domain containing 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319662 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8780094 Fam151b family with sequence similarity 151 member B gene DOID:630 genetic disease ISO RGD:1603888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780094 Fam151b family with sequence similarity 151 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8780112 Nme7 NME/NM23 family member 7 gene DOID:0080600 COVID-19 ISO RGD:733959 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8780112 Nme7 NME/NM23 family member 7 gene DOID:10908 hydrocephalus ISO RGD:733960 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8780112 Nme7 NME/NM23 family member 7 gene DOID:1540 parathyroid carcinoma ISO RGD:733959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8780112 Nme7 NME/NM23 family member 7 gene DOID:303 substance-related disorder ISO RGD:733959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8780112 Nme7 NME/NM23 family member 7 gene DOID:630 genetic disease ISO RGD:733959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780112 Nme7 NME/NM23 family member 7 gene DOID:758 situs inversus susceptibility ISO RGD:733960 D RGD:9068941 20221027 RGD PMID:20080492|REF_RGD_ID:155630601 8780112 Nme7 NME/NM23 family member 7 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:733959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 8780112 Nme7 NME/NM23 family member 7 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:733959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8780112 Nme7 NME/NM23 family member 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8780128 Stmn1 stathmin 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:68960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8780128 Stmn1 stathmin 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:68960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8780128 Stmn1 stathmin 1 gene DOID:305 carcinoma ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8780128 Stmn1 stathmin 1 gene DOID:3070 high grade glioma ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17440165 8780128 Stmn1 stathmin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8780128 Stmn1 stathmin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:68960 D RGD:9068941 20200609 RGD PMID:28982915|REF_RGD_ID:21408578 8780128 Stmn1 stathmin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8780128 Stmn1 stathmin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17455228 8780128 Stmn1 stathmin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8780128 Stmn1 stathmin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:68960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 8780146 Rpl11 ribosomal protein L11 gene DOID:0060058 lymphoma susceptibility ISO RGD:1318595 D RGD:9068941 20200609 RGD PMID:26489471|REF_RGD_ID:11535971 8780146 Rpl11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:7240710 20180130 OMIM 8780146 Rpl11 ribosomal protein L11 gene DOID:0111878 Diamond-Blackfan anemia 7 ISO RGD:1318594 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 7 PMID:16199547|PMID:17576681|PMID:19061985|PMID:19773262|PMID:23718193|PMID:25741868|PMID:28492532|PMID:30503522|PMID:9536098 8780146 Rpl11 ribosomal protein L11 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1318594 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:19061985|PMID:19773262|PMID:20960466|PMID:22689679|PMID:23718193|PMID:25741868|PMID:26136524|PMID:26185635|PMID:28492532|PMID:30503522|PMID:9536098 8780146 Rpl11 ribosomal protein L11 gene DOID:2355 anemia ISO RGD:1318594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 8780146 Rpl11 ribosomal protein L11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318594 D RGD:9068941 20200609 RGD DNA:missense mutation, frameshift mutation:p.R18P, p.G30fs (human) PMID:23377281|REF_RGD_ID:11535972 8780146 Rpl11 ribosomal protein L11 gene DOID:630 genetic disease ISO RGD:1318594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780146 Rpl11 ribosomal protein L11 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8780146 Rpl11 ribosomal protein L11 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1318594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8780160 Slc25a29 solute carrier family 25 member 29 gene DOID:0080600 COVID-19 ISO RGD:1317684 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8780160 Slc25a29 solute carrier family 25 member 29 gene DOID:630 genetic disease ISO RGD:1317684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780160 Slc25a29 solute carrier family 25 member 29 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8780172 Mettl4 methyltransferase 4, N6-adenosine gene DOID:1059 intellectual disability ISO RGD:1346719 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8780172 Mettl4 methyltransferase 4, N6-adenosine gene DOID:630 genetic disease ISO RGD:1346719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780199 Tiam2 TIAM Rac1 associated GEF 2 gene DOID:303 substance-related disorder ISO RGD:1345903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8780199 Tiam2 TIAM Rac1 associated GEF 2 gene DOID:630 genetic disease ISO RGD:1345903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780245 Tnip3 TNFAIP3 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1346864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780245 Tnip3 TNFAIP3 interacting protein 3 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1346864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8780245 Tnip3 TNFAIP3 interacting protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8780262 Ripply1 ripply transcriptional repressor 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1641968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8780262 Ripply1 ripply transcriptional repressor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1641968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8780262 Ripply1 ripply transcriptional repressor 1 gene DOID:12849 autistic disorder ISO RGD:1641968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8780262 Ripply1 ripply transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1641968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731035 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:0110338 osteogenesis imperfecta type 17 ISO RGD:731035 D RGD:7240710 20180130 OMIM 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:0110338 osteogenesis imperfecta type 17 ISO RGD:731035 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 17 PMID:25741868|PMID:26027498|PMID:28492532 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:0111535 progressive osseous heteroplasia ISO RGD:731035 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:10976 membranous glomerulonephritis ISO RGD:3742 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:8943481|REF_RGD_ID:2300069 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:11054 urinary bladder cancer ISO RGD:731035 D RGD:9068941 20200609 RGD PMID:17149610|REF_RGD_ID:2300021 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731035 D RGD:9068941 20200609 RGD PMID:11696817|REF_RGD_ID:2300024 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:11713 diabetic angiopathy ISO RGD:3742 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel PMID:10625572|REF_RGD_ID:2300063 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:12347 osteogenesis imperfecta ISO RGD:731035 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:1588 thrombocytopenia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:182 calcinosis ISO RGD:731035 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:2152 ovary epithelial cancer ISO RGD:731035 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stromal cell PMID:10502421|REF_RGD_ID:2300027 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:2237 hepatitis ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23408952 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:2871 endometrial carcinoma ISO RGD:731035 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, altered expression PMID:17487382|REF_RGD_ID:2300020 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:2893 cervix carcinoma ISO RGD:731035 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16434596|REF_RGD_ID:2300022 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:8644857|REF_RGD_ID:2300070 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:3770 pulmonary fibrosis ISO RGD:11336 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome;mRNA:increased expression:lung: PMID:31838832|REF_RGD_ID:30309204 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:3948 adrenocortical carcinoma ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22156929 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:4450 renal cell carcinoma ISO RGD:731035 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:11679940|REF_RGD_ID:2300025 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:4676 uremia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:5082 liver cirrhosis ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23408952 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:5517 stomach carcinoma ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach mucosa PMID:12359048|REF_RGD_ID:2300058 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:557 kidney disease ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12660331 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:5844 myocardial infarction ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12826287|REF_RGD_ID:2300056 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:630 genetic disease ISO RGD:731035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:90 degenerative disc disease ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714283 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9000039 Spinal Cord Injuries ISO RGD:11336 D RGD:9068941 20200609 RGD PMID:17611274|REF_RGD_ID:2300052 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9000998 Brain Injuries ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, blood vessel PMID:9704602|REF_RGD_ID:2300066 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3742 D RGD:9068941 20200609 RGD PMID:18615449|REF_RGD_ID:2300030 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, fat cell PMID:8786698|REF_RGD_ID:2300071 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18615449|PMID:25380136 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9001600 Wounds and Injuries ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin, fibroblast PMID:8245406|REF_RGD_ID:2300076 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9002165 Diabetic Nephropathies ISO RGD:3742 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:kidney PMID:8569083|REF_RGD_ID:2300072 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9002170 Experimental Neoplasms ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20164124 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9002211 Hyperalgesia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714283 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9002762 Ovarian Neoplasms ISO RGD:11336 D RGD:9068941 20200609 RGD PMID:17951402|REF_RGD_ID:2300019 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9002762 Ovarian Neoplasms ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19177197 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9002928 Colonic Neoplasms ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17397030 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9003669 Low Back Pain ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714283 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9004657 Weight Gain ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9005372 Inflammation ISO RGD:11336 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17717147|REF_RGD_ID:2300051 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9005749 Necrosis ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23408952 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9005930 Endotoxemia ISO RGD:3742 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:10703670|REF_RGD_ID:2300026 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731035 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9007102 Myocardial Ischemia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9007702 Carcinogenesis ISO RGD:731035 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26783756 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9008443 Colorectal Neoplasms ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18458674 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9119 acute myeloid leukemia ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9538 multiple myeloma ISO RGD:731035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18172295 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9538 multiple myeloma disease_progression ISO RGD:731035 D RGD:9068941 20230928 RGD DNA:hypermethylation: : PMID:23699600|REF_RGD_ID:11073605 8780271 Sparc secreted protein acidic and cysteine rich gene DOID:9970 obesity ISO RGD:11336 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:11294850|REF_RGD_ID:2300062 8780291 Rnf13 ring finger protein 13 gene DOID:0050579 glycogen storage disease XV ISO RGD:1351392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8780291 Rnf13 ring finger protein 13 gene DOID:0112209 developmental and epileptic encephalopathy 73 ISO RGD:1351392 D RGD:7240710 20190417 OMIM 8780291 Rnf13 ring finger protein 13 gene DOID:0112209 developmental and epileptic encephalopathy 73 ISO RGD:1351392 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 73 PMID:25741868|PMID:28492532|PMID:30595371 8780291 Rnf13 ring finger protein 13 gene DOID:630 genetic disease ISO RGD:1351392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8780304 Pfn2 profilin 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:734176 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8780304 Pfn2 profilin 2 gene DOID:630 genetic disease ISO RGD:734176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780304 Pfn2 profilin 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:734176 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8780315 Evc2 EvC ciliary complex subunit 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1321308 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:16199547|PMID:17024374|PMID:19251731|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549 8780315 Evc2 EvC ciliary complex subunit 2 gene DOID:0050778 Meckel syndrome ISO RGD:1321308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065 8780315 Evc2 EvC ciliary complex subunit 2 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1321308 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:12571802|PMID:17024374|PMID:19810119|PMID:19876929|PMID:21199751|PMID:22190900|PMID:23026208|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29068549|PMID:35927022 8780315 Evc2 EvC ciliary complex subunit 2 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1321308 D RGD:7240710 20180130 OMIM 8780315 Evc2 EvC ciliary complex subunit 2 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1321308 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS PMID:16404586|PMID:17024374|PMID:18182642|PMID:19251731|PMID:19810119|PMID:19876929|PMID:23220543|PMID:25741868|PMID:26580685|PMID:28492532 8780315 Evc2 EvC ciliary complex subunit 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1321308 D RGD:7240710 20180130 OMIM 8780315 Evc2 EvC ciliary complex subunit 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1321308 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:12468274|PMID:12571802|PMID:16199547|PMID:16404586|PMID:17024374|PMID:17576681|PMID:18454448|PMID:19251731|PMID:19810119|PMID:19876929|PMID:20184732|PMID:21199751|PMID:21815252|PMID:22190900|PMID:22406498|PMID:23026208|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25174843|PMID:25326635|PMID:25500235|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26064711|PMID:26580685|PMID:26748586|PMID:26818569|PMID:27168972|PMID:27280866|PMID:28492532|PMID:29068549|PMID:29456477|PMID:30881389|PMID:31645978|PMID:32369273|PMID:35927022|PMID:7218275|PMID:9536098 8780315 Evc2 EvC ciliary complex subunit 2 gene DOID:12714 Ellis-Van Creveld syndrome susceptibility ISO RGD:1321308 D RGD:9068941 20200609 RGD DNA:mutations PMID:12571802|REF_RGD_ID:1600212 8780315 Evc2 EvC ciliary complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321308 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12468274|PMID:17024374|PMID:19810119|PMID:19876929|PMID:23220543|PMID:24033266|PMID:25525159|PMID:25741868|PMID:28492532 8780315 Evc2 EvC ciliary complex subunit 2 gene DOID:6678 tooth and nail syndrome ISO RGD:1321308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 8780315 Evc2 EvC ciliary complex subunit 2 gene DOID:9002747 Selective Tooth Agenesis 2 ISO RGD:1321308 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 2 PMID:25741868 8780315 Evc2 EvC ciliary complex subunit 2 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1321308 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549 8780352 Znhit1 zinc finger HIT-type containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8780352 Znhit1 zinc finger HIT-type containing 1 gene DOID:630 genetic disease ISO RGD:1318185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780367 Mob3b MOB kinase activator 3B gene DOID:630 genetic disease ISO RGD:1346999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780380 Ppp1r12b protein phosphatase 1 regulatory subunit 12B gene DOID:0050938 breast lobular carcinoma ISO RGD:1319551 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 8780380 Ppp1r12b protein phosphatase 1 regulatory subunit 12B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8780380 Ppp1r12b protein phosphatase 1 regulatory subunit 12B gene DOID:1540 parathyroid carcinoma ISO RGD:1319551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8780380 Ppp1r12b protein phosphatase 1 regulatory subunit 12B gene DOID:630 genetic disease ISO RGD:1319551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780380 Ppp1r12b protein phosphatase 1 regulatory subunit 12B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319551 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8780380 Ppp1r12b protein phosphatase 1 regulatory subunit 12B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1319551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 8780380 Ppp1r12b protein phosphatase 1 regulatory subunit 12B gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:1319551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis 8780380 Ppp1r12b protein phosphatase 1 regulatory subunit 12B gene DOID:9008939 Breast Neoplasms ISO RGD:1319551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 8780380 Ppp1r12b protein phosphatase 1 regulatory subunit 12B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8780450 Golm1 golgi membrane protein 1 gene DOID:0080600 COVID-19 ISO RGD:1322921 D RGD:9068941 20230923 RGD PMID:35923315|REF_RGD_ID:401827120 8780450 Golm1 golgi membrane protein 1 gene DOID:10283 prostate cancer ISO RGD:1322921 D RGD:9068941 20230921 RGD protein,mRNA:increased expression:prostate PMID:29181846|REF_RGD_ID:401827116 8780450 Golm1 golgi membrane protein 1 gene DOID:11476 osteoporosis ISO RGD:1322921 D RGD:9068941 20230921 RGD protein:increased expression:serum PMID:30396165|REF_RGD_ID:401827113 8780450 Golm1 golgi membrane protein 1 gene DOID:11476 osteoporosis treatment ISO RGD:1322922 D RGD:9068941 20230921 RGD PMID:30396165|REF_RGD_ID:401827113 8780450 Golm1 golgi membrane protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1322921 D RGD:9068941 20230923 RGD PMID:37338014|REF_RGD_ID:401827117 8780450 Golm1 golgi membrane protein 1 gene DOID:2237 hepatitis ISO RGD:1322921 D RGD:9068941 20230923 RGD protein:increased expression:serum PMID:21140449|REF_RGD_ID:401827118 8780450 Golm1 golgi membrane protein 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1322921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8780450 Golm1 golgi membrane protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1322921 D RGD:9068941 20230923 RGD protein:increased expression:serum PMID:21140449|REF_RGD_ID:401827118 8780450 Golm1 golgi membrane protein 1 gene DOID:630 genetic disease ISO RGD:1322921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780450 Golm1 golgi membrane protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322921 D RGD:9068941 20230923 RGD protein:increased expression:serum PMID:21140449|REF_RGD_ID:401827118 8780450 Golm1 golgi membrane protein 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1322921 D RGD:9068941 20230923 RGD mRNA, protein:increased expression:liver PMID:21443671|REF_RGD_ID:401827119 8780450 Golm1 golgi membrane protein 1 gene DOID:9006205 Animal Disease Models ISO RGD:1322921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8780469 Zc3h7a zinc finger CCCH-type containing 7A gene DOID:5419 schizophrenia ISO RGD:1322571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8780469 Zc3h7a zinc finger CCCH-type containing 7A gene DOID:630 genetic disease ISO RGD:1322571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780496 Ceacam19 CEA cell adhesion molecule 19 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1601983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8780496 Ceacam19 CEA cell adhesion molecule 19 gene DOID:630 genetic disease ISO RGD:1601983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780512 Igsf9b immunoglobulin superfamily member 9B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8780512 Igsf9b immunoglobulin superfamily member 9B gene DOID:5419 schizophrenia ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8780512 Igsf9b immunoglobulin superfamily member 9B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8780512 Igsf9b immunoglobulin superfamily member 9B gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1604824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 8780548 Ism1 isthmin 1 gene DOID:630 genetic disease ISO RGD:1351413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780559 Rab2a RAB2A, member RAS oncogene family gene DOID:0050834 CHARGE syndrome ISO RGD:68446 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 8780559 Rab2a RAB2A, member RAS oncogene family gene DOID:11612 polycystic ovary syndrome ISO RGD:68446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8780559 Rab2a RAB2A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:68446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780575 Mocs1 molybdenum cofactor synthesis 1 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1318258 D RGD:7240710 20180130 OMIM 8780575 Mocs1 molybdenum cofactor synthesis 1 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1318258 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MOCS1-related condition | ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A PMID:10327149|PMID:11891227|PMID:12754701|PMID:16021469|PMID:16199547|PMID:16429380|PMID:17576681|PMID:20573177|PMID:21031595|PMID:22403017|PMID:25640679|PMID:25741868|PMID:27289259|PMID:28274890|PMID:28492532|PMID:28600779|PMID:28900816|PMID:29274890|PMID:30695801|PMID:32014857|PMID:32099439|PMID:33552910|PMID:33840416|PMID:34426522|PMID:35192225|PMID:36296488|PMID:7660932|PMID:921896|PMID:9536098|PMID:9634514|PMID:9731530|PMID:9921896 8780575 Mocs1 molybdenum cofactor synthesis 1 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1318258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency PMID:28492532 8780575 Mocs1 molybdenum cofactor synthesis 1 gene DOID:1059 intellectual disability ISO RGD:1318258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8780575 Mocs1 molybdenum cofactor synthesis 1 gene DOID:630 genetic disease ISO RGD:1318258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9921896 8780599 Lipi lipase I gene DOID:10652 Alzheimer's disease ISO RGD:1605865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8780599 Lipi lipase I gene DOID:630 genetic disease ISO RGD:1605865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8780599 Lipi lipase I gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:1605865 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia 1 PMID:12719377|PMID:28492532 8780599 Lipi lipase I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8780599 Lipi lipase I gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1605865 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.C55Y PMID:12719377|REF_RGD_ID:1625450 8780614 Kctd2 potassium channel tetramerization domain containing 2 gene DOID:630 genetic disease ISO RGD:1348745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780632 Aprt adenine phosphoribosyltransferase gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1317133 D RGD:7240710 20180130 OMIM 8780632 Aprt adenine phosphoribosyltransferase gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1317133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency PMID:10393170|PMID:11243733|PMID:1353080|PMID:15571218|PMID:1673292|PMID:17126311|PMID:17576681|PMID:1781410|PMID:19435978|PMID:1985452|PMID:20150536|PMID:21304254|PMID:2135300|PMID:21635362|PMID:22212387|PMID:2227951|PMID:22988602|PMID:23430916|PMID:24459232|PMID:24940675|PMID:24986359|PMID:2502918|PMID:25741868|PMID:25983915|PMID:25984046|PMID:26724837|PMID:27994857|PMID:28492532|PMID:28566603|PMID:28717278|PMID:30106368|PMID:30355577|PMID:30389108|PMID:30890413|PMID:30993240|PMID:31201003|PMID:31440706|PMID:3343350|PMID:3554238|PMID:3680503|PMID:7685481|PMID:7758207|PMID:7912608|PMID:7915931|PMID:8882882|PMID:9298830|PMID:9521589|PMID:9536098 8780632 Aprt adenine phosphoribosyltransferase gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 8780632 Aprt adenine phosphoribosyltransferase gene DOID:0080653 urolithiasis ISO RGD:1317133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3876264|PMID:7766 8780632 Aprt adenine phosphoribosyltransferase gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1317133 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8780632 Aprt adenine phosphoribosyltransferase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10479485|PMID:25545067|PMID:25741868|PMID:28492532|PMID:34387910 8780632 Aprt adenine phosphoribosyltransferase gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morquio syndrome PMID:25741868|PMID:28492532 8780632 Aprt adenine phosphoribosyltransferase gene DOID:14780 KBG syndrome ISO RGD:1317133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 8780632 Aprt adenine phosphoribosyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1317133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8780632 Aprt adenine phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1317133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780632 Aprt adenine phosphoribosyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1307758 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6327016|REF_RGD_ID:5135035 8780632 Aprt adenine phosphoribosyltransferase gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1317133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8780632 Aprt adenine phosphoribosyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307758 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:2451510|REF_RGD_ID:1599204 8780632 Aprt adenine phosphoribosyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1317133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 8780641 Nudcd2 NudC domain containing 2 gene DOID:630 genetic disease ISO RGD:1353286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:0050439 Usher syndrome ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:730953 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25326637|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:0060468 Holt-Oram syndrome ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holt-Oram syndrome PMID:24465802|PMID:25741868|PMID:26017485|PMID:28492532|PMID:28633253|PMID:28655553 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:730953 D RGD:7240710 20180130 OMIM 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:730953 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:23102774|PMID:24033266|PMID:24193348|PMID:24465802|PMID:24577266|PMID:25046559|PMID:25049390|PMID:25326637|PMID:25640679|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28139901|PMID:28492532|PMID:28544325|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32154675|PMID:32277047|PMID:32307099|PMID:32897753|PMID:33418956|PMID:34008892|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:0080006 bone development disease ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:10487 Hirschsprung's disease ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:26017485|PMID:28492532 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:730953 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:22772371|PMID:24465802|PMID:25741868|PMID:26017485|PMID:28139901|PMID:28492532|PMID:28633253|PMID:28655553|PMID:29543232 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730953 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:22772368|PMID:22772371|PMID:23102774|PMID:24465802|PMID:25644172|PMID:25741868|PMID:26017485|PMID:28492532|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730953 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:7737999|PMID:9599222 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730953 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9599222 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730953 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25326637|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9599222 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730953 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25326637|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:1520 colon carcinoma ISO RGD:1313707 D RGD:9068941 20200609 RGD PMID:10416598|REF_RGD_ID:13432084 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:1520 colon carcinoma disease_progression ISO RGD:730953 D RGD:9068941 20200609 RGD PMID:11166150|REF_RGD_ID:13432074 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:1540 parathyroid carcinoma ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:1682 congenital heart disease ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:1686 glaucoma ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20375339 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:1790 malignant mesothelioma ISO RGD:730953 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:2256 osteochondrodysplasia ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:17366323|REF_RGD_ID:2302024 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:289 endometriosis ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:730953 D RGD:9068941 20221027 RGD protein:decreased expression:pancreas (human) PMID:8253361|REF_RGD_ID:155630628 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:3627 aortic aneurysm ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:22772371|PMID:25741868|PMID:28492532 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:3910 lung adenocarcinoma ISO RGD:730953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:417 autoimmune disease ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:5082 liver cirrhosis ISO RGD:730953 D RGD:9068941 20200609 RGD PMID:30686515|REF_RGD_ID:14985228 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:5199 ureteral obstruction ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17164399 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:520 aortic disease ISO RGD:730953 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:22772368|PMID:23102774|PMID:25741868|PMID:26854089|PMID:28492532|PMID:28550590|PMID:29907982|PMID:31191903 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:5637 pancreatic adenosquamous carcinoma ameliorates ISO RGD:730953 D RGD:9068941 20221027 RGD human cells in a mouse model PMID:21366804|REF_RGD_ID:155630611 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:57 aortic valve insufficiency ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:5844 myocardial infarction ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:14575314|REF_RGD_ID:2302107 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:630 genetic disease ISO RGD:730953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:29907982|PMID:30071990|PMID:3476488 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:65 connective tissue disease ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:674 cleft palate ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450421 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730953 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:15145083|REF_RGD_ID:2302103 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9000781 Cyanosis ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9001600 Wounds and Injuries ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:17117936|PMID:18205704|REF_RGD_ID:2292158|REF_RGD_ID:2302090 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9001611 Urogenital Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:70491 D RGD:9068941 20200609 RGD protein:decreased expression:sciatic nerve PMID:14997937|REF_RGD_ID:2302105 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:70491 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:central nervous system PMID:17204936|REF_RGD_ID:2302088 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:26017485|PMID:28492532 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9005100 Aberrant Crypt Foci treatment ISO RGD:70491 D RGD:9068941 20200609 RGD PMID:17293967|REF_RGD_ID:13432080 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70491 D RGD:9068941 20200609 RGD protein:increased expression:parotid gland PMID:17574405|REF_RGD_ID:2302087 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9006294 Congenital Limb Deformities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9006949 Martsolf Syndrome ISO RGD:730953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9007870 Respiratory System Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9008296 Eye Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730953 D RGD:9068941 20200609 RGD associated with Inflammatory Bowel Diseases;DNA:hypermethylation PMID:22532293|REF_RGD_ID:13432077 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9217007 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:730953 D RGD:9068941 20200609 RGD PMID:15057430|REF_RGD_ID:13432086 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9256 colorectal cancer treatment ISO RGD:730953 D RGD:9068941 20200609 RGD PMID:19661324|REF_RGD_ID:13432081 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9446 cholangitis ISO RGD:730953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 8780679 Tgfb2 transforming growth factor beta 2 gene DOID:9743 diabetic neuropathy ISO RGD:70491 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion PMID:18406405|REF_RGD_ID:2302086 8780694 Chpf2 chondroitin polymerizing factor 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1604004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8780694 Chpf2 chondroitin polymerizing factor 2 gene DOID:2843 long QT syndrome ISO RGD:1604004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8780694 Chpf2 chondroitin polymerizing factor 2 gene DOID:630 genetic disease ISO RGD:1604004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780711 Cib2 calcium and integrin binding family member 2 gene DOID:0050439 Usher syndrome ISO RGD:1318655 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24033266|PMID:25741868|PMID:26173970|PMID:26214305|PMID:26226137|PMID:26426422|PMID:26445815|PMID:26992781|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30055715|PMID:30311386|PMID:34837038 8780711 Cib2 calcium and integrin binding family member 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1318655 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:23023331|PMID:25741868|PMID:30303587 8780711 Cib2 calcium and integrin binding family member 2 gene DOID:0110505 autosomal recessive nonsyndromic deafness 48 ISO RGD:1318655 D RGD:7240710 20180130 OMIM 8780711 Cib2 calcium and integrin binding family member 2 gene DOID:0110505 autosomal recessive nonsyndromic deafness 48 ISO RGD:1318655 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 48 PMID:23023331|PMID:24033266|PMID:25741868|PMID:26173970|PMID:26214305|PMID:26226137|PMID:26416264|PMID:26426422|PMID:26445815|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30303587|PMID:30311386|PMID:34837038 8780711 Cib2 calcium and integrin binding family member 2 gene DOID:0110826 Usher syndrome type 1 ISO RGD:1318655 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:18505454|PMID:20301442|PMID:23023331 8780711 Cib2 calcium and integrin binding family member 2 gene DOID:0110836 Usher syndrome type 1J ISO RGD:1318655 D RGD:7240710 20180130 OMIM 8780711 Cib2 calcium and integrin binding family member 2 gene DOID:0110836 Usher syndrome type 1J ISO RGD:1318655 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1J PMID:18505454|PMID:20301442|PMID:23023331|PMID:24033266|PMID:25741868|PMID:26173970|PMID:26226137|PMID:26445815|PMID:28492532|PMID:29112224|PMID:30303587 8780711 Cib2 calcium and integrin binding family member 2 gene DOID:2717 Bloom syndrome ISO RGD:1318655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8780711 Cib2 calcium and integrin binding family member 2 gene DOID:630 genetic disease ISO RGD:1318655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8780711 Cib2 calcium and integrin binding family member 2 gene DOID:9004538 Hearing Loss ISO RGD:1318655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:26173970|PMID:28492532|PMID:28663585|PMID:29112224|PMID:30311386 8780711 Cib2 calcium and integrin binding family member 2 gene DOID:9256 colorectal cancer ISO RGD:1318655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8780725 Mpzl2 myelin protein zero like 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8780725 Mpzl2 myelin protein zero like 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1316244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8780725 Mpzl2 myelin protein zero like 2 gene DOID:0080690 RASopathy ISO RGD:1316244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8780725 Mpzl2 myelin protein zero like 2 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8780725 Mpzl2 myelin protein zero like 2 gene DOID:0110651 long QT syndrome 10 ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8780725 Mpzl2 myelin protein zero like 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8780725 Mpzl2 myelin protein zero like 2 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1316244 D RGD:7240710 20190315 OMIM 8780725 Mpzl2 myelin protein zero like 2 gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1316244 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition PMID:25741868|PMID:28492532|PMID:29961571|PMID:29982980|PMID:30311386|PMID:35802133|PMID:36633841 8780725 Mpzl2 myelin protein zero like 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8780725 Mpzl2 myelin protein zero like 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8780725 Mpzl2 myelin protein zero like 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1316244 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8780725 Mpzl2 myelin protein zero like 2 gene DOID:1059 intellectual disability ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8780725 Mpzl2 myelin protein zero like 2 gene DOID:630 genetic disease ISO RGD:1316244 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8780725 Mpzl2 myelin protein zero like 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8780725 Mpzl2 myelin protein zero like 2 gene DOID:9007661 Dwarfism ISO RGD:1316244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8780748 Ephb2 EPH receptor B2 gene DOID:0060673 Peters anomaly ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 8780748 Ephb2 EPH receptor B2 gene DOID:0080600 COVID-19 ISO RGD:1605126 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8780748 Ephb2 EPH receptor B2 gene DOID:10127 cerebral artery occlusion ameliorates ISO RGD:1617631 D RGD:9068941 20210625 RGD PMID:18639535|REF_RGD_ID:127285624 8780748 Ephb2 EPH receptor B2 gene DOID:10652 Alzheimer's disease ameliorates ISO RGD:1617631 D RGD:9068941 20210625 RGD PMID:21113149|REF_RGD_ID:12859080 8780748 Ephb2 EPH receptor B2 gene DOID:12365 malaria ISO RGD:1617631 D RGD:9068941 20210625 RGD mRNA:increased expression:liver PMID:25784101|REF_RGD_ID:127285023 8780748 Ephb2 EPH receptor B2 gene DOID:1561 cognitive disorder ISO RGD:1605126 D RGD:9068941 20210625 RGD associated with human immunodeficiency virus infectious disease; mRNA:increased expression:Anterior cingulate PMID:23314923|REF_RGD_ID:127285026 8780748 Ephb2 EPH receptor B2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1564232 D RGD:9068941 20210625 RGD mRNA,protein:increased expression: cortex, cerebral cortex subventricular zone PMID:16321245|REF_RGD_ID:1642069 8780748 Ephb2 EPH receptor B2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1617631 D RGD:9068941 20210625 RGD PMID:16321245|REF_RGD_ID:1642069 8780748 Ephb2 EPH receptor B2 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:1617631 D RGD:9068941 20210625 RGD associated with malaria; PMID:25784101|REF_RGD_ID:127285023 8780748 Ephb2 EPH receptor B2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1605126 D RGD:9068941 20210625 RGD mRNA:decreased expression:Anterior cingulate PMID:23314923|REF_RGD_ID:127285026 8780748 Ephb2 EPH receptor B2 gene DOID:630 genetic disease ISO RGD:1605126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780748 Ephb2 EPH receptor B2 gene DOID:8577 ulcerative colitis ameliorates ISO RGD:1564232 D RGD:9068941 20210625 RGD PMID:33722292|REF_RGD_ID:127285641 8780748 Ephb2 EPH receptor B2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1564232 D RGD:9068941 20210702 RGD PMID:12944508|REF_RGD_ID:127285804 8780748 Ephb2 EPH receptor B2 gene DOID:9000039 Spinal Cord Injuries ameliorates ISO RGD:1564232 D RGD:9068941 20210625 RGD PMID:33794069|REF_RGD_ID:127285659 8780748 Ephb2 EPH receptor B2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1564232 D RGD:9068941 20210625 RGD mRNA,protein:increased expression:dorsal root ganglion PMID:32149862|REF_RGD_ID:127285658 8780748 Ephb2 EPH receptor B2 gene DOID:9001471 Anorectal Malformations ISO RGD:1564232 D RGD:9068941 20210625 RGD mRNA,protein:decreased expression:embryonic cloaca, urorectal septum PMID:19302865|REF_RGD_ID:127285623 8780748 Ephb2 EPH receptor B2 gene DOID:9004298 Prostate Cancer/Brain Cancer Susceptibility ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer/brain cancer susceptibility PMID:15300251|PMID:16155194|PMID:25741868|PMID:28492532 8780748 Ephb2 EPH receptor B2 gene DOID:9004298 Prostate Cancer/Brain Cancer Susceptibility susceptibility ISO RGD:1605126 D RGD:7240710 20240306 OMIM 8780748 Ephb2 EPH receptor B2 gene DOID:9005834 Ependymomas ISO RGD:1605126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 8780748 Ephb2 EPH receptor B2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1605126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8780748 Ephb2 EPH receptor B2 gene DOID:9007718 Platelet-Type Bleeding Disorder 22 ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 22 PMID:30213874 8780748 Ephb2 EPH receptor B2 gene DOID:9007718 Platelet-Type Bleeding Disorder 22 susceptibility ISO RGD:1605126 D RGD:7240710 20240306 OMIM 8780748 Ephb2 EPH receptor B2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:18682749 8780748 Ephb2 EPH receptor B2 gene DOID:9008452 Candidemia exacerbates ISO RGD:1617631 D RGD:9068941 20210604 RGD PMID:33685996|REF_RGD_ID:127229905 8780748 Ephb2 EPH receptor B2 gene DOID:9008820 Visceral Pain ameliorates ISO RGD:1617631 D RGD:9068941 20210625 RGD PMID:33880135|REF_RGD_ID:127285657 8780748 Ephb2 EPH receptor B2 gene DOID:9778 irritable bowel syndrome ISO RGD:1564232 D RGD:9068941 20210604 RGD associated with trichuriasis;protein:increased expression:colonic muscularis: PMID:31601124|REF_RGD_ID:127229906 8780748 Ephb2 EPH receptor B2 gene DOID:9778 irritable bowel syndrome ameliorates ISO RGD:1564232 D RGD:9068941 20210604 RGD PMID:31601124|REF_RGD_ID:127229906 8780777 Ddx28 DEAD-box helicase 28 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8780777 Ddx28 DEAD-box helicase 28 gene DOID:630 genetic disease ISO RGD:1323712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780783 C1s complement C1s gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1605130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8780783 C1s complement C1s gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8780783 C1s complement C1s gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8780783 C1s complement C1s gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8780783 C1s complement C1s gene DOID:0080939 hereditary angioedema type I ISO RGD:1605130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3184114 8780783 C1s complement C1s gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 PMID:27745832 8780783 C1s complement C1s gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1605130 D RGD:7240710 20190315 OMIM 8780783 C1s complement C1s gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 PMID:25741868|PMID:27745832|PMID:28492532 8780783 C1s complement C1s gene DOID:0111621 Temtamy syndrome ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8780783 C1s complement C1s gene DOID:2048 autoimmune hepatitis ISO RGD:1605130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11390518 8780783 C1s complement C1s gene DOID:417 autoimmune disease ISO RGD:1605130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11390518 8780783 C1s complement C1s gene DOID:630 genetic disease ISO RGD:1605130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8780783 C1s complement C1s gene DOID:9006194 Complement Component C1s Deficiency ISO RGD:1605130 D RGD:7240710 20180130 OMIM 8780783 C1s complement C1s gene DOID:9006194 Complement Component C1s Deficiency ISO RGD:1605130 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Complement component C1s deficiency PMID:11390518|PMID:19155518|PMID:25741868|PMID:28492532|PMID:9973493 8780783 C1s complement C1s gene DOID:9007355 Hashimoto Disease ISO RGD:1605130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11390518 8780783 C1s complement C1s gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:0060001 withdrawal disorder ISO RGD:732764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15537871 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732764 D RGD:9068941 20211203 RGD DNA:SNP: :rs7178270(human) PMID:20587604|REF_RGD_ID:150527839 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732764 D RGD:9068941 20220225 RGD DNA:SNP:3'utr: (rs1948)C>T (human) PMID:29416783|REF_RGD_ID:151361155 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:1596 depressive disorder ISO RGD:2351 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:2717 Bloom syndrome ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732764 D RGD:9068941 20220224 RGD mRNA:increased expression:esophagus (human) PMID:27610024|REF_RGD_ID:151361143 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:732764 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:732764 D RGD:9068941 20220225 RGD DNA:hypomethylation:promoter: PMID:22945651|REF_RGD_ID:151361154 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:732764 D RGD:9068941 20220224 RGD DNA:SNP:: (rs7178270) (human) PMID:23397474|REF_RGD_ID:151361148 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:732764 D RGD:9068941 20220224 RGD PMID:25172267|REF_RGD_ID:151361147 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732764 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732764 D RGD:9068941 20220225 RGD DNA:hypomethylation:promoter: PMID:22945651|REF_RGD_ID:151361154 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:5409 lung small cell carcinoma ISO RGD:732764 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:630 genetic disease ISO RGD:732764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:809 cocaine abuse onset ISO RGD:732764 D RGD:9068941 20211210 RGD DNA:SNP::rs950776(human) PMID:32841724|REF_RGD_ID:150530292 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:8618 oral cavity cancer susceptibility ISO RGD:732764 D RGD:9068941 20220128 RGD DNA:SNP: :rs578776(human) PMID:24505444|REF_RGD_ID:151347542 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:732764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29666375 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9004283 Transplant Rejection ISO RGD:2351 D RGD:9068941 20220128 RGD PMID:25121092|REF_RGD_ID:151347544 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:732764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18385738 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9255 frontotemporal dementia ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 8780799 Chrnb4 cholinergic receptor nicotinic beta 4 subunit gene DOID:9256 colorectal cancer ISO RGD:732764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8780812 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1348952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8780812 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:10283 prostate cancer ISO RGD:1348952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8780812 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:10591 pre-eclampsia ISO RGD:1348952 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8780812 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:11714 gestational diabetes ISO RGD:1348952 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8780812 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1348952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8780812 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:543 dystonia ISO RGD:621305 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebellar cortex PMID:17092653|REF_RGD_ID:1599351 8780812 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:630 genetic disease ISO RGD:1348952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8780812 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1348952 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8780812 Atp2b4 ATPase plasma membrane Ca2+ transporting 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8780842 Orm1 orosomucoid 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1351569 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8780842 Orm1 orosomucoid 1 gene DOID:3021 acute kidney failure ISO RGD:1351569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8780842 Orm1 orosomucoid 1 gene DOID:630 genetic disease ISO RGD:1351569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780842 Orm1 orosomucoid 1 gene DOID:9002457 Experimental Arthritis ISO RGD:67390 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16166348|REF_RGD_ID:2316639 8780842 Orm1 orosomucoid 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1351569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8780842 Orm1 orosomucoid 1 gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1351569 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8780842 Orm1 orosomucoid 1 gene DOID:9007874 Liver Failure ISO RGD:1351569 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18256743 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1323647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:0080205 CAKUT ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:0110231 cataract 1 multiple types ISO RGD:1323647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:1227 neutropenia ISO RGD:1323647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:18 urinary system disease ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the urinary system 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:303 substance-related disorder ISO RGD:1323647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:5419 schizophrenia ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:630 genetic disease ISO RGD:1323647 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:9007661 Dwarfism ISO RGD:1323647 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 8780852 Chd1l chromodomain helicase DNA binding protein 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8780887 Lmod2 leiomodin 2 gene DOID:0081163 dilated cardiomyopathy 2G ISO RGD:1603238 D RGD:7240710 20220608 OMIM 8780887 Lmod2 leiomodin 2 gene DOID:0081163 dilated cardiomyopathy 2G ISO RGD:1603238 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2G PMID:25741868|PMID:31517052|PMID:34888509|PMID:35082396 8780887 Lmod2 leiomodin 2 gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:1603238 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:35082396 8780887 Lmod2 leiomodin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1557393 D RGD:9068941 20220825 MouseDO 8780887 Lmod2 leiomodin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8780887 Lmod2 leiomodin 2 gene DOID:630 genetic disease ISO RGD:1603238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780899 Aff1 ALF transcription elongation factor 1 gene DOID:3307 teratoma ISO RGD:1317426 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8780899 Aff1 ALF transcription elongation factor 1 gene DOID:630 genetic disease ISO RGD:1317426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780925 Ces4a carboxylesterase 4A gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8780925 Ces4a carboxylesterase 4A gene DOID:0110255 cataract 5 multiple types ISO RGD:1602823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8780925 Ces4a carboxylesterase 4A gene DOID:630 genetic disease ISO RGD:1602823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780945 Ro60 Ro60, Y RNA binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1312904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8780945 Ro60 Ro60, Y RNA binding protein gene DOID:630 genetic disease ISO RGD:1312904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780945 Ro60 Ro60, Y RNA binding protein gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1312904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 8780945 Ro60 Ro60, Y RNA binding protein gene DOID:9074 systemic lupus erythematosus ISO RGD:1624075 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8780945 Ro60 Ro60, Y RNA binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8780958 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8780958 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8780958 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:736541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8780958 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:736541 D RGD:7240710 20180130 OMIM 8780958 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:736541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:17576681|PMID:18414213|PMID:19901254|PMID:23109149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33129689|PMID:9536098 8780958 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736541 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8780958 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:736541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 8780958 Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory gene DOID:630 genetic disease ISO RGD:736541 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780968 Umps uridine monophosphate synthetase gene DOID:0050833 orotic aciduria ISO RGD:1323612 D RGD:7240710 20180130 OMIM 8780968 Umps uridine monophosphate synthetase gene DOID:0050833 orotic aciduria ISO RGD:1323612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1 | ClinVar Annotator: match by term: Orotic aciduria PMID:16199547|PMID:25741868|PMID:25757096|PMID:28205048|PMID:28263315|PMID:28492532|PMID:9042911 8780968 Umps uridine monophosphate synthetase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1323612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8780968 Umps uridine monophosphate synthetase gene DOID:0080916 erythroleukemia ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 8780968 Umps uridine monophosphate synthetase gene DOID:10923 sickle cell anemia ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 8780968 Umps uridine monophosphate synthetase gene DOID:12241 beta thalassemia ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 8780968 Umps uridine monophosphate synthetase gene DOID:12971 hereditary spherocytosis ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 8780968 Umps uridine monophosphate synthetase gene DOID:1342 congenital hypoplastic anemia ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 8780968 Umps uridine monophosphate synthetase gene DOID:1749 squamous cell carcinoma ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16757204 8780968 Umps uridine monophosphate synthetase gene DOID:630 genetic disease ISO RGD:1323612 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8780968 Umps uridine monophosphate synthetase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:1323612 D RGD:9068941 20200609 RGD orotic aciduria PMID:9042911|REF_RGD_ID:1599702 8780968 Umps uridine monophosphate synthetase gene DOID:684 hepatocellular carcinoma ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230555 8780968 Umps uridine monophosphate synthetase gene DOID:9000217 Stomach Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16912530|PMID:17089033|PMID:18652704 8780968 Umps uridine monophosphate synthetase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15999119|PMID:19082440 8780968 Umps uridine monophosphate synthetase gene DOID:9002928 Colonic Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 8780968 Umps uridine monophosphate synthetase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1311908 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:3907307|REF_RGD_ID:5132278 8780968 Umps uridine monophosphate synthetase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1311908 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:1476792|REF_RGD_ID:5132591 8780968 Umps uridine monophosphate synthetase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1323612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 8780968 Umps uridine monophosphate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323612 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs2279199|rs4678145 (human) PMID:28347776|REF_RGD_ID:152995291 8780968 Umps uridine monophosphate synthetase gene DOID:9007364 Mouth Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16757204 8780968 Umps uridine monophosphate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641|PMID:19020767 8780968 Umps uridine monophosphate synthetase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8780968 Umps uridine monophosphate synthetase gene DOID:9008939 Breast Neoplasms ISO RGD:1323612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767|PMID:19151563 8780968 Umps uridine monophosphate synthetase gene DOID:9270 alkaptonuria ISO RGD:1323612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8780981 Psmg1 proteasome assembly chaperone 1 gene DOID:12849 autistic disorder ISO RGD:1313491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8780981 Psmg1 proteasome assembly chaperone 1 gene DOID:630 genetic disease ISO RGD:1313491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8780981 Psmg1 proteasome assembly chaperone 1 gene DOID:8577 ulcerative colitis ISO RGD:1313491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 8781001 Rab19 RAB19, member RAS oncogene family gene DOID:0080690 RASopathy ISO RGD:1604143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8781001 Rab19 RAB19, member RAS oncogene family gene DOID:11193 syndactyly ISO RGD:1604143 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868 8781001 Rab19 RAB19, member RAS oncogene family gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8781001 Rab19 RAB19, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1604143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781009 Tceal8 transcription elongation factor A like 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8781009 Tceal8 transcription elongation factor A like 8 gene DOID:12849 autistic disorder ISO RGD:1352350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8781009 Tceal8 transcription elongation factor A like 8 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1352350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 8781009 Tceal8 transcription elongation factor A like 8 gene DOID:630 genetic disease ISO RGD:1352350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:11870 Pick's disease ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:12392790|REF_RGD_ID:7495833 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:1205 allergic disease ISO RGD:732805 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21544193 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:397 restrictive cardiomyopathy ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:11593045|REF_RGD_ID:1302548 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:732805 D RGD:9068941 20200609 RGD expression inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system PMID:16489030|REF_RGD_ID:2293338 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:4362 cervical cancer ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:20980434|REF_RGD_ID:7495806 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:630 genetic disease ISO RGD:732805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:678 progressive supranuclear palsy ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:12392790|REF_RGD_ID:7495833 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:732805 D RGD:9068941 20200609 RGD protein:increased expression PMID:17577251|REF_RGD_ID:2293334 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9000197 Edema ISO RGD:732805 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21544193 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1313499 D RGD:9068941 20200609 RGD PMID:17016428|REF_RGD_ID:7495832 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9000774 Brain Death ISO RGD:620666 D RGD:9068941 20200609 RGD PMID:23157661|REF_RGD_ID:7495829 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552419 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732805 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732805 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9002304 Prostatic Neoplasms no_association ISO RGD:732805 D RGD:9068941 20200609 RGD expression has no effect on metastatic colonization of secondary sites by cancer cells in the AT6.1 model system PMID:16322247|REF_RGD_ID:2293337 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9002928 Colonic Neoplasms ISO RGD:732805 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15037631 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9003936 Cardiomegaly ISO RGD:1552419 D RGD:9068941 20200609 RGD PMID:12750397|PMID:15722372|REF_RGD_ID:13782145|REF_RGD_ID:1582275 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620666 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, glomerulus PMID:11473637|REF_RGD_ID:7495813 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1552419 D RGD:9068941 20200609 RGD PMID:14749328|REF_RGD_ID:7495840 8781027 Map2k6 mitogen-activated protein kinase kinase 6 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732805 D RGD:9068941 20200609 RGD PMID:15492008|REF_RGD_ID:1582277 8781043 Amotl2 angiomotin like 2 gene DOID:630 genetic disease ISO RGD:737053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781043 Amotl2 angiomotin like 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:737053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8781061 Qdpr quinoid dihydropteridine reductase gene DOID:0081130 BH4-deficient hyperphenylalaninemia C ISO RGD:734380 D RGD:7240710 20180130 OMIM 8781061 Qdpr quinoid dihydropteridine reductase gene DOID:0081130 BH4-deficient hyperphenylalaninemia C ISO RGD:734380 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: Quinoid dihydropteridine reductase deficiency PMID:10408783|PMID:11153907|PMID:11694255|PMID:1283784|PMID:16199547|PMID:17188538|PMID:17576681|PMID:19099731|PMID:2116088|PMID:21890392|PMID:23138986|PMID:24033266|PMID:25124972|PMID:25155776|PMID:25741868|PMID:26006720|PMID:26589311|PMID:27243974|PMID:27246466|PMID:28492532|PMID:29499199|PMID:30109838|PMID:30221392|PMID:32905092|PMID:33822819|PMID:33903016|PMID:33977029|PMID:34214291|PMID:34485013|PMID:34997870|PMID:36382472|PMID:7627180|PMID:8326489|PMID:8518287|PMID:9341885|PMID:9536098|PMID:9744478 8781061 Qdpr quinoid dihydropteridine reductase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:734380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:25741868 8781061 Qdpr quinoid dihydropteridine reductase gene DOID:10763 hypertension ISO RGD:619915 D RGD:9068941 20200609 RGD protein:decreased expression:aorta smooth muscle (rat) PMID:19743417|REF_RGD_ID:5128580 8781061 Qdpr quinoid dihydropteridine reductase gene DOID:1824 status epilepticus ISO RGD:619915 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:17366478|REF_RGD_ID:5128581 8781061 Qdpr quinoid dihydropteridine reductase gene DOID:630 genetic disease ISO RGD:734380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8781061 Qdpr quinoid dihydropteridine reductase gene DOID:9004590 Acute Liver Failure ISO RGD:734380 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 8781061 Qdpr quinoid dihydropteridine reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619915 D RGD:9068941 20200609 RGD protein:decreased activity:brain (rat) PMID:2758679|REF_RGD_ID:5128601 8781061 Qdpr quinoid dihydropteridine reductase gene DOID:9008914 Lead Poisoning ISO RGD:619915 D RGD:9068941 20200609 RGD protein:increased activity:brain, caudate nucleus (rat) PMID:2359144|REF_RGD_ID:5128598 8781061 Qdpr quinoid dihydropteridine reductase gene DOID:9281 phenylketonuria ISO RGD:734380 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria type 2 PMID:11153907|PMID:16199547|PMID:17188538|PMID:25741868|PMID:27246466|PMID:28492532|PMID:7627180|PMID:8326489|PMID:8518287|PMID:9744478 8781071 CUNH15orf61 chromosome unknown C15orf61 homolog gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:2302457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8781071 CUNH15orf61 chromosome unknown C15orf61 homolog gene DOID:2717 Bloom syndrome ISO RGD:2302457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8781071 CUNH15orf61 chromosome unknown C15orf61 homolog gene DOID:630 genetic disease ISO RGD:2302457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781071 CUNH15orf61 chromosome unknown C15orf61 homolog gene DOID:9256 colorectal cancer ISO RGD:2302457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8781077 Elavl3 ELAV like RNA binding protein 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8781077 Elavl3 ELAV like RNA binding protein 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8781077 Elavl3 ELAV like RNA binding protein 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1343972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8781077 Elavl3 ELAV like RNA binding protein 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8781077 Elavl3 ELAV like RNA binding protein 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1343972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8781077 Elavl3 ELAV like RNA binding protein 3 gene DOID:630 genetic disease ISO RGD:1343972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781093 Tas2r40 taste 2 receptor member 40 gene DOID:630 genetic disease ISO RGD:1351253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781097 Foxj1 forkhead box J1 gene DOID:0050144 Kartagener syndrome ISO RGD:732359 D RGD:9068941 20220825 MouseDO 8781097 Foxj1 forkhead box J1 gene DOID:0111856 primary ciliary dyskinesia 43 ISO RGD:732358 D RGD:7240710 20200101 OMIM 8781097 Foxj1 forkhead box J1 gene DOID:0111856 primary ciliary dyskinesia 43 ISO RGD:732358 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 43 PMID:25741868|PMID:31630787|PMID:33077954|PMID:34132502 8781097 Foxj1 forkhead box J1 gene DOID:1682 congenital heart disease ISO RGD:732359 D RGD:9068941 20231116 MouseDO 8781097 Foxj1 forkhead box J1 gene DOID:630 genetic disease ISO RGD:732358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781097 Foxj1 forkhead box J1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732359 D RGD:9068941 20220825 MouseDO 8781105 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1318874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young 8781105 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:0111109 maturity-onset diabetes of the young type 11 ISO RGD:1318874 D RGD:7240710 20180130 OMIM 8781105 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:0111109 maturity-onset diabetes of the young type 11 ISO RGD:1318874 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: BLK-related condition | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11 PMID:18204098|PMID:18414213|PMID:19667185|PMID:24023612|PMID:24033266|PMID:25741868|PMID:27634015|PMID:27913849|PMID:28095440|PMID:28492532|PMID:30191644|PMID:31101814|PMID:31670388|PMID:31683055|PMID:32313195|PMID:33116287 8781105 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:13378 Kawasaki disease ISO RGD:1318874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446961 8781105 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1318874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 8781105 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:1318874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8781105 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:7148 rheumatoid arthritis ISO RGD:1318874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 8781105 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8781105 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1308859 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle (rat) PMID:17562528|REF_RGD_ID:1642307 8781105 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:1318874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:18204098|PMID:19667185|PMID:24023612|PMID:25741868|PMID:28492532|PMID:29663334|PMID:30191644|PMID:31101814|PMID:31670388|PMID:31683055|PMID:32313195 8781105 Blk BLK proto-oncogene, Src family tyrosine kinase gene DOID:9351 diabetes mellitus ISO RGD:1318874 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18204098|PMID:18414213|PMID:19667185|PMID:24023612|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31670388|PMID:32313195 8781154 Unc119 unc-119 lipid binding chaperone gene DOID:0050572 cone-rod dystrophy ISO RGD:1343859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11006213|PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 8781154 Unc119 unc-119 lipid binding chaperone gene DOID:0111987 immunodeficiency 13 ISO RGD:1343859 D RGD:7240710 20200826 OMIM 8781154 Unc119 unc-119 lipid binding chaperone gene DOID:0111987 immunodeficiency 13 ISO RGD:1343859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 13 | ClinVar Annotator: match by term: UNC119-related condition PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 8781154 Unc119 unc-119 lipid binding chaperone gene DOID:10584 retinitis pigmentosa ISO RGD:1343859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11006213 8781154 Unc119 unc-119 lipid binding chaperone gene DOID:3109 idiopathic CD4-positive T-lymphocytopenia ISO RGD:1343859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IDIOPATHIC CD4 LYMPHOPENIA PMID:22184408|PMID:24033266|PMID:25741868|PMID:28492532 8781154 Unc119 unc-119 lipid binding chaperone gene DOID:4448 macular degeneration ISO RGD:1343859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:26992781|PMID:35947183 8781154 Unc119 unc-119 lipid binding chaperone gene DOID:630 genetic disease ISO RGD:1343859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8781154 Unc119 unc-119 lipid binding chaperone gene DOID:9005636 Cone-Rod Dystrophy 24 ISO RGD:1343859 D RGD:7240710 20230505 OMIM 8781154 Unc119 unc-119 lipid binding chaperone gene DOID:9005636 Cone-Rod Dystrophy 24 ISO RGD:1343859 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 24 PMID:11006213|PMID:26992781|PMID:28492532|PMID:35947183 8781168 Evl Enah/Vasp-like gene DOID:630 genetic disease ISO RGD:1605079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781168 Evl Enah/Vasp-like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 8781168 Evl Enah/Vasp-like gene DOID:9008939 Breast Neoplasms ISO RGD:1605079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8781211 Oip5 Opa interacting protein 5 gene DOID:2717 Bloom syndrome ISO RGD:1345771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8781211 Oip5 Opa interacting protein 5 gene DOID:630 genetic disease ISO RGD:1345771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781211 Oip5 Opa interacting protein 5 gene DOID:9256 colorectal cancer ISO RGD:1345771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8781257 Ssbp4 single stranded DNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1350792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781257 Ssbp4 single stranded DNA binding protein 4 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1350792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8781275 Poc1a POC1 centriolar protein A gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1353956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:22840364|PMID:25558065|PMID:25741868|PMID:26336158|PMID:26374189|PMID:26791357|PMID:28492532 8781275 Poc1a POC1 centriolar protein A gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1353956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8781275 Poc1a POC1 centriolar protein A gene DOID:10907 microcephaly ISO RGD:1353956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8781275 Poc1a POC1 centriolar protein A gene DOID:630 genetic disease ISO RGD:1353956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8781275 Poc1a POC1 centriolar protein A gene DOID:9003030 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis ISO RGD:1353956 D RGD:7240710 20180130 OMIM 8781275 Poc1a POC1 centriolar protein A gene DOID:9003030 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis ISO RGD:1353956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis PMID:18414213|PMID:22440536|PMID:22840363|PMID:22840364|PMID:25558065|PMID:25741868|PMID:26336158|PMID:26374189|PMID:26791357|PMID:28492532|PMID:30569574 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1350184 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1350184 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:0080600 COVID-19 ISO RGD:1350184 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:1059 intellectual disability ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1350184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:11372 megacolon ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1350184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:12849 autistic disorder ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:22511880|PMID:25741868|PMID:28492532|PMID:30208311 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:1826 epilepsy ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:5419 schizophrenia ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:630 genetic disease ISO RGD:1350184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8781290 Cltcl1 clathrin heavy chain like 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350184 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8781338 Nup43 nucleoporin 43 gene DOID:630 genetic disease ISO RGD:1605529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781350 Rras RAS related gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1322910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 8781350 Rras RAS related gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1322910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8781350 Rras RAS related gene DOID:0080600 COVID-19 ISO RGD:1322910 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8781350 Rras RAS related gene DOID:3490 Noonan syndrome ISO RGD:1322910 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:17576681|PMID:24033266|PMID:24705357|PMID:25741868|PMID:28492532|PMID:28875981|PMID:9536098 8781350 Rras RAS related gene DOID:630 genetic disease ISO RGD:1322910 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8781350 Rras RAS related gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8781372 Chadl chondroadherin like gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:2292054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8781372 Chadl chondroadherin like gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:2292054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 8781372 Chadl chondroadherin like gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:2292054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 8781372 Chadl chondroadherin like gene DOID:630 genetic disease ISO RGD:2292054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781372 Chadl chondroadherin like gene DOID:9006041 Osteoarthritis, Hip ISO RGD:2292054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319091|PMID:30374069 8781407 Depp1 DEPP autophagy regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1352536 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8781407 Depp1 DEPP autophagy regulator 1 gene DOID:289 endometriosis ISO RGD:1352536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8781407 Depp1 DEPP autophagy regulator 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1352536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8781407 Depp1 DEPP autophagy regulator 1 gene DOID:9455 lipid storage disease ISO RGD:1352536 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 8781413 Etfb electron transfer flavoprotein subunit beta gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347524 D RGD:7240710 20180130 OMIM 8781413 Etfb electron transfer flavoprotein subunit beta gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347524 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12706375|PMID:12815589|PMID:16199547|PMID:16510302|PMID:17576681|PMID:17638024|PMID:18289905|PMID:19763152|PMID:20307669|PMID:20674745|PMID:22406018|PMID:22588007|PMID:23785301|PMID:24033266|PMID:25741868|PMID:27081516|PMID:28492532|PMID:30626930|PMID:31418342|PMID:31589614|PMID:32778825|PMID:35095998|PMID:7912128|PMID:9350306|PMID:9536098 8781413 Etfb electron transfer flavoprotein subunit beta gene DOID:630 genetic disease ISO RGD:1347524 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8781413 Etfb electron transfer flavoprotein subunit beta gene DOID:784 chronic kidney disease ISO RGD:1347524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 8781423 Cxxc5 CXXC finger protein 5 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8781423 Cxxc5 CXXC finger protein 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8781423 Cxxc5 CXXC finger protein 5 gene DOID:630 genetic disease ISO RGD:1345048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781423 Cxxc5 CXXC finger protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8781423 Cxxc5 CXXC finger protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8781443 Vps35 VPS35 retromer complex component gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868 8781443 Vps35 VPS35 retromer complex component gene DOID:0060892 late onset Parkinson's disease ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset 8781443 Vps35 VPS35 retromer complex component gene DOID:0060897 Parkinson's disease 17 ISO RGD:1350372 D RGD:7240710 20180130 OMIM 8781443 Vps35 VPS35 retromer complex component gene DOID:0060897 Parkinson's disease 17 ISO RGD:1350372 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Parkinson disease 17 PMID:17576681|PMID:18342564|PMID:21763482|PMID:21763483|PMID:22154191|PMID:22517097|PMID:22801713|PMID:22991136|PMID:23125461|PMID:23408866|PMID:23411763|PMID:24740878|PMID:25288323|PMID:25533483|PMID:25741868|PMID:26251041|PMID:26321632|PMID:27385586|PMID:28166811|PMID:28492532|PMID:28796472|PMID:28862745|PMID:32613234|PMID:9536098 8781443 Vps35 VPS35 retromer complex component gene DOID:0080514 Meier-Gorlin syndrome 3 ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 PMID:25741868 8781443 Vps35 VPS35 retromer complex component gene DOID:0111041 glycogen storage disease IXB ISO RGD:1350372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 8781443 Vps35 VPS35 retromer complex component gene DOID:14330 Parkinson's disease ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:25741868 8781443 Vps35 VPS35 retromer complex component gene DOID:5419 schizophrenia ISO RGD:1350372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8781443 Vps35 VPS35 retromer complex component gene DOID:630 genetic disease ISO RGD:1350372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781469 Cd27 CD27 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353701 D RGD:7240710 20180130 OMIM 8781469 Cd27 CD27 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353701 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:17576681|PMID:22197273|PMID:22801960|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25843314|PMID:28492532|PMID:30293248|PMID:32499645|PMID:32603431|PMID:32888943|PMID:9536098 8781469 Cd27 CD27 molecule gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1353701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8781469 Cd27 CD27 molecule gene DOID:0111621 Temtamy syndrome ISO RGD:1353701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8781469 Cd27 CD27 molecule gene DOID:0111962 combined immunodeficiency ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:25843314|PMID:28492532|PMID:32499645 8781469 Cd27 CD27 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:1353701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 8781469 Cd27 CD27 molecule gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353701 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28492532 8781469 Cd27 CD27 molecule gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25741868|PMID:25843314|PMID:28492532|PMID:32499645 8781469 Cd27 CD27 molecule gene DOID:630 genetic disease ISO RGD:1353701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8781469 Cd27 CD27 molecule gene DOID:820 myocarditis ISO RGD:1353701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 8781469 Cd27 CD27 molecule gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1560499 D RGD:9068941 20200609 RGD PMID:16698589|REF_RGD_ID:1581860 8781469 Cd27 CD27 molecule gene DOID:9007346 Cachexia ISO RGD:1353701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 8781469 Cd27 CD27 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8781469 Cd27 CD27 molecule gene DOID:934 viral infectious disease ISO RGD:1353701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 8781482 Ddx55 DEAD-box helicase 55 gene DOID:630 genetic disease ISO RGD:1323439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781509 Slc38a7 solute carrier family 38 member 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8781509 Slc38a7 solute carrier family 38 member 7 gene DOID:0080600 COVID-19 ISO RGD:1602480 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8781509 Slc38a7 solute carrier family 38 member 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8781509 Slc38a7 solute carrier family 38 member 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8781509 Slc38a7 solute carrier family 38 member 7 gene DOID:630 genetic disease ISO RGD:1602480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781536 Tacstd2 tumor associated calcium signal transducer 2 gene DOID:0060449 gelatinous drop-like corneal dystrophy ISO RGD:1342963 D RGD:7240710 20180130 OMIM 8781536 Tacstd2 tumor associated calcium signal transducer 2 gene DOID:0060449 gelatinous drop-like corneal dystrophy ISO RGD:1342963 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lattice corneal dystrophy Type III PMID:10192395|PMID:12107443|PMID:15652848|PMID:17167402|PMID:25741868|PMID:28492532 8781536 Tacstd2 tumor associated calcium signal transducer 2 gene DOID:2566 corneal dystrophy ISO RGD:1342963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Dominant/Recessive 8781536 Tacstd2 tumor associated calcium signal transducer 2 gene DOID:289 endometriosis ISO RGD:1342963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8781536 Tacstd2 tumor associated calcium signal transducer 2 gene DOID:630 genetic disease ISO RGD:1342963 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8781541 Crebl2 cAMP responsive element binding protein like 2 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1319876 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8781541 Crebl2 cAMP responsive element binding protein like 2 gene DOID:630 genetic disease ISO RGD:1319876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781554 Tmem186 transmembrane protein 186 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1604027 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 8781554 Tmem186 transmembrane protein 186 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1604027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:28492532 8781554 Tmem186 transmembrane protein 186 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1604027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8781554 Tmem186 transmembrane protein 186 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1604027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8781554 Tmem186 transmembrane protein 186 gene DOID:5812 MHC class II deficiency ISO RGD:1604027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8781554 Tmem186 transmembrane protein 186 gene DOID:630 genetic disease ISO RGD:1604027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781554 Tmem186 transmembrane protein 186 gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:1604027 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hao-Fountain syndrome 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:0040084 Streptococcus pneumonia ISO RGD:731346 D RGD:9068941 20201015 RGD mRNA:increased expression:lung (mouse) PMID:20385761|REF_RGD_ID:39938865 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:26914138|REF_RGD_ID:11529541 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:0050211 swine influenza ISO RGD:731346 D RGD:9068941 20201029 RGD PMID:24799604|REF_RGD_ID:39939082 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:0050211 swine influenza disease_progression ISO RGD:731346 D RGD:9068941 20201029 RGD PMID:23785507|REF_RGD_ID:39939079 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1346818 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:10591 pre-eclampsia ISO RGD:731346 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:11263 chlamydia ISO RGD:731346 D RGD:9068941 20201015 RGD mRNA:increased expression:lung (mouse) PMID:31249813|REF_RGD_ID:39938856 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:11263 chlamydia treatment ISO RGD:1346818 D RGD:9068941 20200807 RGD PMID:30832593|REF_RGD_ID:38455984 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:12205 dengue disease treatment ISO RGD:1346818 D RGD:9068941 20201029 RGD PMID:31821895|REF_RGD_ID:39939074 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:12385 shigellosis treatment ISO RGD:731346 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:12662 paracoccidioidomycosis ISO RGD:731346 D RGD:9068941 20201029 RGD mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse) PMID:27992577|REF_RGD_ID:39939072 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:1289 neurodegenerative disease ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:1346818 D RGD:9068941 20201029 RGD protein:increased activity, increased expression:plasma, heart (human) PMID:21765346|REF_RGD_ID:39939075 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:2122 pneumonic tularemia ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:20385761|REF_RGD_ID:39938865 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:2272 vulvovaginal candidiasis ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:23853597|REF_RGD_ID:39938863 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:289 endometriosis ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1346818 D RGD:9068941 20201029 RGD PMID:32369456|REF_RGD_ID:39939073 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1346818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1346818 D RGD:9068941 20201029 RGD associated with pulmonary tuberculosis;protein:increased expression:blood (human) PMID:32369456|REF_RGD_ID:39939073 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:646 viral encephalitis ISO RGD:731346 D RGD:9068941 20201023 RGD PMID:30770561|REF_RGD_ID:39939045 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:731346 D RGD:9068941 20201029 RGD PMID:24844751|REF_RGD_ID:39939118 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9000469 Viral Myocarditis ISO RGD:731346 D RGD:9068941 20201023 RGD PMID:31416389|REF_RGD_ID:39939047 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731346 D RGD:9068941 20201023 RGD PMID:28465467|REF_RGD_ID:39939037 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis severity ISO RGD:731346 D RGD:9068941 20201023 RGD protein:increased expression:serum (mouse) PMID:28465467|REF_RGD_ID:39939037 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:26914138|REF_RGD_ID:11529541 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:731346 D RGD:9068941 20201029 RGD associated with Pneumococcal Meningitis PMID:24844751|REF_RGD_ID:39939118 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346818 D RGD:9068941 20201029 RGD mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human) PMID:25605587|REF_RGD_ID:39939081 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9004484 Sepsis treatment ISO RGD:731346 D RGD:9068941 20201015 RGD PMID:25114116|REF_RGD_ID:39938864 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:731346 D RGD:9068941 20201022 RGD PMID:25278421|REF_RGD_ID:39939031 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9004657 Weight Gain ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27020609 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9005099 Salmonella Infections, Animal susceptibility ISO RGD:731346 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:731346 D RGD:9068941 20201023 RGD PMID:31231617|REF_RGD_ID:39939039 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9005372 Inflammation ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9005930 Endotoxemia ISO RGD:731346 D RGD:9068941 20201029 RGD PMID:24930766|PMID:28077574|REF_RGD_ID:39939032|REF_RGD_ID:39939117 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1346818 D RGD:9068941 20201022 RGD protein:increased expression:serum (human) PMID:28465467|REF_RGD_ID:39939037 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9123 eczema herpeticum severity ISO RGD:1346818 D RGD:9068941 20201022 RGD associated with atopic dermatitis; protein:increased activity:serum (human) PMID:26198597|REF_RGD_ID:11528429 8781560 Ido1 indoleamine 2,3-dioxygenase 1 gene DOID:9970 obesity ISO RGD:1346818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27020609 8781574 Mroh9 maestro heat like repeat family member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1602210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8781574 Mroh9 maestro heat like repeat family member 9 gene DOID:630 genetic disease ISO RGD:1602210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781574 Mroh9 maestro heat like repeat family member 9 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8781574 Mroh9 maestro heat like repeat family member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8781613 Znf470 zinc finger protein 470 gene DOID:630 genetic disease ISO RGD:1603830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781628 Knstrn kinetochore localized astrin (SPAG5) binding protein gene DOID:0080600 COVID-19 ISO RGD:1344647 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8781628 Knstrn kinetochore localized astrin (SPAG5) binding protein gene DOID:1749 squamous cell carcinoma ISO RGD:1344647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194279 8781628 Knstrn kinetochore localized astrin (SPAG5) binding protein gene DOID:1909 melanoma ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 8781628 Knstrn kinetochore localized astrin (SPAG5) binding protein gene DOID:2717 Bloom syndrome ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8781628 Knstrn kinetochore localized astrin (SPAG5) binding protein gene DOID:3151 skin squamous cell carcinoma ISO RGD:1344647 D RGD:9068941 20200609 RGD DNA:mutation:cds: p.Ala40Glu (human) PMID:30972880|REF_RGD_ID:28867225 8781628 Knstrn kinetochore localized astrin (SPAG5) binding protein gene DOID:3151 skin squamous cell carcinoma ISO RGD:1344647 D RGD:9068941 20200609 RGD DNA:mutation:cds: p.Ser24Phe(human) PMID:25194279|REF_RGD_ID:28867226 8781628 Knstrn kinetochore localized astrin (SPAG5) binding protein gene DOID:630 genetic disease ISO RGD:1344647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781628 Knstrn kinetochore localized astrin (SPAG5) binding protein gene DOID:8866 actinic keratosis severity ISO RGD:1344647 D RGD:9068941 20200609 RGD DNA:mutation:cds: p.Ala40Glu (human) PMID:30972880|REF_RGD_ID:28867225 8781628 Knstrn kinetochore localized astrin (SPAG5) binding protein gene DOID:8923 skin melanoma ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 8781628 Knstrn kinetochore localized astrin (SPAG5) binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:7240710 20210505 OMIM 8781628 Knstrn kinetochore localized astrin (SPAG5) binding protein gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic PMID:19863561|PMID:29180244 8781628 Knstrn kinetochore localized astrin (SPAG5) binding protein gene DOID:9256 colorectal cancer ISO RGD:1344647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:0080828 VEXAS syndrome ISO RGD:1604847 D RGD:7240710 20201202 OMIM 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:0080828 VEXAS syndrome ISO RGD:1604847 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: VEXAS syndrome PMID:16199547|PMID:25741868|PMID:28492532|PMID:33108101|PMID:33690815|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1604847 D RGD:7240710 20180130 OMIM 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:0111827 X-linked spinal muscular atrophy 2 ISO RGD:1604847 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile PMID:16199547|PMID:17576681|PMID:18179898|PMID:20301739|PMID:25075304|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29034082|PMID:32181232|PMID:33108101|PMID:33369814|PMID:33690815|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445|PMID:9536098 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604847 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:12849 autistic disorder ISO RGD:1604847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 PMID:21681106|PMID:30208311 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1604847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19014429 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:630 genetic disease ISO RGD:1604847 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18179898|PMID:20301739|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33108101|PMID:33690815|PMID:33789873|PMID:34048852|PMID:34647982|PMID:34649277|PMID:35793467|PMID:36038944|PMID:36662445|PMID:9536098 8781642 Uba1 ubiquitin like modifier activating enzyme 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8781690 Gsdme gasdermin E gene DOID:0050563 nonsyndromic deafness ISO RGD:1349553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:15173223|PMID:17427029|PMID:24033266|PMID:28492532|PMID:30311386|PMID:7427029 8781690 Gsdme gasdermin E gene DOID:0110575 autosomal dominant nonsyndromic deafness 5 ISO RGD:1349553 D RGD:7240710 20180130 OMIM 8781690 Gsdme gasdermin E gene DOID:0110575 autosomal dominant nonsyndromic deafness 5 ISO RGD:1349553 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 5 PMID:14676472|PMID:15173223|PMID:17576681|PMID:17868390|PMID:24033266|PMID:24164807|PMID:25741868|PMID:28492532|PMID:29266521|PMID:29849037|PMID:30311386|PMID:34906502|PMID:35114279|PMID:9536098 8781690 Gsdme gasdermin E gene DOID:10003 sensorineural hearing loss ISO RGD:1349553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8781690 Gsdme gasdermin E gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8781690 Gsdme gasdermin E gene DOID:630 genetic disease ISO RGD:1349553 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8781690 Gsdme gasdermin E gene DOID:7148 rheumatoid arthritis ISO RGD:1349553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 8781690 Gsdme gasdermin E gene DOID:9004538 Hearing Loss ISO RGD:1349553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:28492532|PMID:30311386 8781707 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1313025 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8781707 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ISO RGD:1313025 D RGD:7240710 20180130 OMIM 8781707 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ISO RGD:1313025 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 PMID:14757859|PMID:16199547|PMID:25741868|PMID:28492532|PMID:34440436 8781707 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1313025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8781707 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1313025 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8781707 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1313025 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8781707 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:10907 microcephaly ISO RGD:1313025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8781707 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:12849 autistic disorder ISO RGD:1313025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8781707 Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 gene DOID:630 genetic disease ISO RGD:1313025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8781719 Mrgprf MAS related GPR family member F gene DOID:1059 intellectual disability ISO RGD:1346995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8781719 Mrgprf MAS related GPR family member F gene DOID:630 genetic disease ISO RGD:1346995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781719 Mrgprf MAS related GPR family member F gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8781719 Mrgprf MAS related GPR family member F gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8781748 Serpinb2 serpin family B member 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343432 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8781748 Serpinb2 serpin family B member 2 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8781748 Serpinb2 serpin family B member 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1343432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 8781748 Serpinb2 serpin family B member 2 gene DOID:574 peripheral nervous system disease ISO RGD:1343432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 8781748 Serpinb2 serpin family B member 2 gene DOID:630 genetic disease ISO RGD:1343432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781748 Serpinb2 serpin family B member 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8781748 Serpinb2 serpin family B member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1343432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0050650 familial atrial fibrillation ISO RGD:731917 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:25741868 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060224 atrial fibrillation ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:15368194|PMID:16487223|PMID:18006559|PMID:22581653|PMID:24681347|PMID:25741868|PMID:28492532 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:731917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:15368194|PMID:16487223|PMID:22581653|PMID:24681347|PMID:25741868|PMID:28492532 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10219239|PMID:10220144|PMID:10984545|PMID:14760488|PMID:15368194|PMID:15840476|PMID:16922724|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23631430|PMID:23631727|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31737537|PMID:32268277|PMID:33626434 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0110648 long QT syndrome 6 ISO RGD:731917 D RGD:7240710 20180130 OMIM 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:0110648 long QT syndrome 6 ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 | ClinVar Annotator: match by term: Long QT syndrome 6, acquired, susceptibility to PMID:10219239|PMID:10220144|PMID:10973849|PMID:10984545|PMID:11034315|PMID:11101505|PMID:11468227|PMID:12185453|PMID:12402336|PMID:12923204|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16000071|PMID:16414944|PMID:16487223|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19863579|PMID:20042375|PMID:20817017|PMID:20981092|PMID:21626672|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23098067|PMID:23382499|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:23890619|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24403551|PMID:24569893|PMID:24606995|PMID:24631775|PMID:24681347|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26284702|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27884173|PMID:27920829|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29544605|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31589614|PMID:31690835|PMID:31737537|PMID:32078429|PMID:32268277|PMID:33626434 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731917 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10220144|PMID:15368194|PMID:15840476|PMID:18006462|PMID:20817017|PMID:22166675|PMID:22581653|PMID:22677073|PMID:23631430|PMID:24033266|PMID:24403551|PMID:24796621|PMID:25741868|PMID:26123744|PMID:26633542|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29805884|PMID:32268277 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:1588 thrombocytopenia ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:2843 long QT syndrome ISO RGD:731917 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15599693|PMID:15840476|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24403551|PMID:24606995|PMID:24631775|PMID:25333069|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26633542|PMID:27435932|PMID:27650965|PMID:27920829|PMID:28166811|PMID:28492532|PMID:28600387|PMID:28794082|PMID:30986657|PMID:31535183 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:2843 long QT syndrome ISO RGD:731917 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31447099|PMID:31535183|PMID:31589614|PMID:32268277 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:2843 long QT syndrome ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10219239|PMID:10220144|PMID:10984545|PMID:11468227|PMID:12185453|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15368194|PMID:15599693|PMID:15840476|PMID:15913580|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23631727|PMID:23861362|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24606995|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31589614|PMID:31737537|PMID:32268277|PMID:33626434 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:3393 coronary artery disease ISO RGD:731917 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10219239|PMID:10973849|PMID:10984545|PMID:11034315|PMID:11101505|PMID:14760488|PMID:16922724|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19863579|PMID:20042375|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23382499|PMID:23631727|PMID:23861362|PMID:23936059|PMID:24055113|PMID:24144883|PMID:24569893|PMID:24606995|PMID:24631775|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26159999|PMID:26284702|PMID:26859003|PMID:27884173|PMID:28341588|PMID:28492532|PMID:28794082|PMID:29661707|PMID:31235733|PMID:31447099|PMID:31737537|PMID:33626434 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10219239 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9002643 Long QT Syndrome 3/6 ISO RGD:731917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic PMID:16922724|PMID:22581653 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:731917 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome PMID:18478040|PMID:18487507|PMID:19357396|PMID:19679353|PMID:21626672|PMID:28492532|PMID:32581362 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10219239|PMID:10220144|PMID:10984545|PMID:14760488|PMID:15368194|PMID:15840476|PMID:16922724|PMID:17275752|PMID:18006462|PMID:19219384|PMID:19716085|PMID:20042375|PMID:20817017|PMID:22166675|PMID:22378279|PMID:22581653|PMID:22677073|PMID:23631430|PMID:23631727|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24403551|PMID:24569893|PMID:24631775|PMID:24796621|PMID:25333069|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26123744|PMID:26159999|PMID:26220970|PMID:26633542|PMID:26859003|PMID:27435932|PMID:27465075|PMID:27650965|PMID:27920829|PMID:28492532|PMID:28600387|PMID:28794082|PMID:29661707|PMID:29805884|PMID:30847666|PMID:30986657|PMID:31235733|PMID:31447099|PMID:31535183|PMID:31737537|PMID:32268277|PMID:33626434 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005392 Familial Atrial Fibrillation 4 ISO RGD:731917 D RGD:7240710 20180130 OMIM 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005392 Familial Atrial Fibrillation 4 ISO RGD:731917 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 4 PMID:10219239|PMID:10973849|PMID:10984545|PMID:11034315|PMID:11101505|PMID:12923204|PMID:14661677|PMID:14760488|PMID:15368194|PMID:16000071|PMID:16487223|PMID:16922724|PMID:17210839|PMID:17275752|PMID:19219384|PMID:19716085|PMID:19841298|PMID:19863579|PMID:20042375|PMID:20981092|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23382499|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23890619|PMID:24055113|PMID:24144883|PMID:24606995|PMID:24631775|PMID:24681347|PMID:24796621|PMID:25637381|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26284702|PMID:27435932|PMID:27465075|PMID:27884173|PMID:28341588|PMID:28492532|PMID:28794082|PMID:29544605|PMID:30847666|PMID:30986657|PMID:31535183 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621383 D RGD:9068941 20200609 RGD mRNA:decreased expression:left heart ventricle PMID:19267230|REF_RGD_ID:7243942 8781760 Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:731917 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8781796 Rpl26l1 ribosomal protein L26 like 1 gene DOID:0080600 COVID-19 ISO RGD:1352940 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8781796 Rpl26l1 ribosomal protein L26 like 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1352940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8781796 Rpl26l1 ribosomal protein L26 like 1 gene DOID:630 genetic disease ISO RGD:1352940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781796 Rpl26l1 ribosomal protein L26 like 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1352940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8781804 Ifng interferon gamma gene DOID:0040084 Streptococcus pneumonia ISO RGD:737488 D RGD:9068941 20201117 RGD protein:increased expression:lung,natural killer cell (mouse) PMID:21887255|REF_RGD_ID:40818252 8781804 Ifng interferon gamma gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8781804 Ifng interferon gamma gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 8781804 Ifng interferon gamma gene DOID:0050523 adult T-cell leukemia/lymphoma treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:8800741|REF_RGD_ID:10755707 8781804 Ifng interferon gamma gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:31062617|REF_RGD_ID:14975125 8781804 Ifng interferon gamma gene DOID:0050855 renal fibrosis no_association ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:8289579|REF_RGD_ID:10755751 8781804 Ifng interferon gamma gene DOID:0050855 renal fibrosis treatment ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:10594787|REF_RGD_ID:10755746 8781804 Ifng interferon gamma gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:2866 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:17338814|REF_RGD_ID:8662972 8781804 Ifng interferon gamma gene DOID:0060180 colitis ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:16717119|REF_RGD_ID:150573704 8781804 Ifng interferon gamma gene DOID:0060180 colitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 8781804 Ifng interferon gamma gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 8781804 Ifng interferon gamma gene DOID:0060319 cardiac arrest ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9806674 8781804 Ifng interferon gamma gene DOID:0060704 lymphoproliferative syndrome ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 8781804 Ifng interferon gamma gene DOID:0080074 neural tube defect ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17075842 8781804 Ifng interferon gamma gene DOID:0080158 herpes simplex virus keratitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:12162877|REF_RGD_ID:8157603 8781804 Ifng interferon gamma gene DOID:0080162 lupus nephritis ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum,urine PMID:22764573|REF_RGD_ID:6893369 8781804 Ifng interferon gamma gene DOID:0080162 lupus nephritis ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased processing:kidney PMID:29925830|REF_RGD_ID:14974252 8781804 Ifng interferon gamma gene DOID:0080162 lupus nephritis ISO RGD:737487 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 8781804 Ifng interferon gamma gene DOID:0080199 colorectal carcinoma ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:16717119|REF_RGD_ID:150573704 8781804 Ifng interferon gamma gene DOID:0080325 tuberous sclerosis 2 ISO RGD:737487 D RGD:7240710 20180130 OMIM 8781804 Ifng interferon gamma gene DOID:0080545 hyper IgE syndrome ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16112032 8781804 Ifng interferon gamma gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ameliorates ISO RGD:737488 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 8781804 Ifng interferon gamma gene DOID:0080599 Coronavirus infectious disease ISO RGD:737488 D RGD:9068941 20200618 RGD PMID:19906920|REF_RGD_ID:4891446 8781804 Ifng interferon gamma gene DOID:0080600 COVID-19 ISO RGD:737487 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8781804 Ifng interferon gamma gene DOID:0080600 COVID-19 ISO RGD:737487 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8781804 Ifng interferon gamma gene DOID:0080600 COVID-19 severity ISO RGD:737487 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8781804 Ifng interferon gamma gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:737488 D RGD:9068941 20200625 RGD PMID:30634407|REF_RGD_ID:30309958 8781804 Ifng interferon gamma gene DOID:0080745 polymyositis ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19953283|REF_RGD_ID:7794747 8781804 Ifng interferon gamma gene DOID:0081120 Graves ophthalmopathy ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:8444271|REF_RGD_ID:7794734 8781804 Ifng interferon gamma gene DOID:0081267 graft-versus-host disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22077062 8781804 Ifng interferon gamma gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:16409297|REF_RGD_ID:10755684 8781804 Ifng interferon gamma gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Cytomegalovirus Infections; DNA:repeats:intron: PMID:19747638|REF_RGD_ID:10755687 8781804 Ifng interferon gamma gene DOID:0112006 immunodeficiency 69 ISO RGD:737487 D RGD:7240710 20200812 OMIM 8781804 Ifng interferon gamma gene DOID:0112006 immunodeficiency 69 ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 69 PMID:24033266|PMID:25741868|PMID:32163377 8781804 Ifng interferon gamma gene DOID:10003 sensorineural hearing loss ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:15937357|REF_RGD_ID:7987908 8781804 Ifng interferon gamma gene DOID:10003 sensorineural hearing loss ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Hearing Loss, Sensorineural;protein:increased expression:serum: PMID:19684145|REF_RGD_ID:8142347 8781804 Ifng interferon gamma gene DOID:10140 dry eye syndrome ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:tear: PMID:17525184|REF_RGD_ID:8157601 8781804 Ifng interferon gamma gene DOID:10223 dermatomyositis ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19953283|REF_RGD_ID:7794747 8781804 Ifng interferon gamma gene DOID:10457 Legionnaires' disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11349020 8781804 Ifng interferon gamma gene DOID:10588 adrenoleukodystrophy ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16319717 8781804 Ifng interferon gamma gene DOID:10608 celiac disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8781804 Ifng interferon gamma gene DOID:10608 celiac disease ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:26440733|REF_RGD_ID:14974259 8781804 Ifng interferon gamma gene DOID:1074 kidney failure ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246|PMID:8289579 8781804 Ifng interferon gamma gene DOID:10754 otitis media ISO RGD:737487 D RGD:9068941 20200609 RGD associated with adenoidal hypertrophy; protein:decreased expression:T cell: PMID:18266836|REF_RGD_ID:7987910 8781804 Ifng interferon gamma gene DOID:10754 otitis media ISO RGD:737488 D RGD:9068941 20200609 RGD associated with Pneumococcal infections; PMID:16730398|REF_RGD_ID:8142343 8781804 Ifng interferon gamma gene DOID:10952 nephritis ISO RGD:737487 D RGD:9068941 20200609 RGD associated with bacterial infection;protein:increased expression:serum PMID:22752353|REF_RGD_ID:6893461 8781804 Ifng interferon gamma gene DOID:11054 urinary bladder cancer ISO RGD:737487 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22906662|REF_RGD_ID:6893349 8781804 Ifng interferon gamma gene DOID:11054 urinary bladder cancer treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:11219496|REF_RGD_ID:8157619 8781804 Ifng interferon gamma gene DOID:11077 brucellosis treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:27916101|REF_RGD_ID:14974260 8781804 Ifng interferon gamma gene DOID:11121 pulpitis ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:12017181|REF_RGD_ID:10755771 8781804 Ifng interferon gamma gene DOID:1115 sarcoma ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9794839 8781804 Ifng interferon gamma gene DOID:11204 allergic conjunctivitis ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:12234900|REF_RGD_ID:8142386 8781804 Ifng interferon gamma gene DOID:11204 allergic conjunctivitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:16123425|REF_RGD_ID:8142391 8781804 Ifng interferon gamma gene DOID:11263 chlamydia ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 8781804 Ifng interferon gamma gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22613426|REF_RGD_ID:6893374 8781804 Ifng interferon gamma gene DOID:11406 choroiditis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:10227812|REF_RGD_ID:8157614 8781804 Ifng interferon gamma gene DOID:11506 suppurative otitis media disease_progression ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:19640314|REF_RGD_ID:8142346 8781804 Ifng interferon gamma gene DOID:11832 visual epilepsy ISO RGD:2866 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:19944569|REF_RGD_ID:10755768 8781804 Ifng interferon gamma gene DOID:12030 panuveitis ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:iris neuron PMID:9797675|REF_RGD_ID:8142379 8781804 Ifng interferon gamma gene DOID:1205 allergic disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10886234|PMID:21625544 8781804 Ifng interferon gamma gene DOID:12134 factor VIII deficiency treatment ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:SNP: :+874 A>T (human) PMID:25930091|REF_RGD_ID:11055683 8781804 Ifng interferon gamma gene DOID:12140 Chagas disease ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:10684988|REF_RGD_ID:10755744 8781804 Ifng interferon gamma gene DOID:12236 primary biliary cholangitis ISO RGD:737487 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 8781804 Ifng interferon gamma gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:737487 D RGD:9068941 20200609 RGD associated with uveitis;protein:increased expression:aqueous humor: PMID:21334264|REF_RGD_ID:8142356 8781804 Ifng interferon gamma gene DOID:12306 vitiligo onset ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs2430561(human) PMID:23777204|REF_RGD_ID:8157616 8781804 Ifng interferon gamma gene DOID:12306 vitiligo susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron:rs3138557(human) PMID:23777204|REF_RGD_ID:8157616 8781804 Ifng interferon gamma gene DOID:12361 Graves' disease ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:2125901|REF_RGD_ID:8142373 8781804 Ifng interferon gamma gene DOID:12361 Graves' disease ISO RGD:737487 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 8781804 Ifng interferon gamma gene DOID:12361 Graves' disease ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15544617|REF_RGD_ID:8157604 8781804 Ifng interferon gamma gene DOID:12361 Graves' disease susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:microsatellite repeats:intron: PMID:9848715|REF_RGD_ID:8142372 8781804 Ifng interferon gamma gene DOID:12361 Graves' disease susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:+874A>T(human) PMID:16970687|REF_RGD_ID:8157599 8781804 Ifng interferon gamma gene DOID:12361 Graves' disease treatment ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:15068623|REF_RGD_ID:8142393 8781804 Ifng interferon gamma gene DOID:12365 malaria ISO RGD:737488 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 8781804 Ifng interferon gamma gene DOID:12449 aplastic anemia ISO RGD:737487 D RGD:7240710 20180130 OMIM 8781804 Ifng interferon gamma gene DOID:12449 aplastic anemia ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia 8781804 Ifng interferon gamma gene DOID:12449 aplastic anemia susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism: : 874A>T(human) PMID:18426658|REF_RGD_ID:10755710 8781804 Ifng interferon gamma gene DOID:12449 aplastic anemia susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:15327519|REF_RGD_ID:10755688 8781804 Ifng interferon gamma gene DOID:12449 aplastic anemia treatment ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats,haplotype:intron: -2,353 A>T(human) PMID:20953611|REF_RGD_ID:10755690 8781804 Ifng interferon gamma gene DOID:1252 trichuriasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864659 8781804 Ifng interferon gamma gene DOID:12704 ataxia telangiectasia ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:6432389|REF_RGD_ID:8693328 8781804 Ifng interferon gamma gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937650 8781804 Ifng interferon gamma gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Otitis media;protein:increased expression:serum: PMID:19352211|REF_RGD_ID:8142352 8781804 Ifng interferon gamma gene DOID:12849 autistic disorder ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 8781804 Ifng interferon gamma gene DOID:12894 Sjogren's syndrome ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:28421993|REF_RGD_ID:14975117 8781804 Ifng interferon gamma gene DOID:12894 Sjogren's syndrome ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15584966|REF_RGD_ID:8142390 8781804 Ifng interferon gamma gene DOID:13141 uveitis ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Behcet's disease PMID:29534057|REF_RGD_ID:14974251 8781804 Ifng interferon gamma gene DOID:13141 uveitis ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor,serum PMID:10865312|REF_RGD_ID:7365086 8781804 Ifng interferon gamma gene DOID:13141 uveitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15875359|REF_RGD_ID:8142394 8781804 Ifng interferon gamma gene DOID:13141 uveitis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15875359|REF_RGD_ID:8142394 8781804 Ifng interferon gamma gene DOID:13241 Behcet's disease ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Uveitis; protein:increased expression:aqueous humor: PMID:21334264|REF_RGD_ID:8142356 8781804 Ifng interferon gamma gene DOID:13241 Behcet's disease ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:2154346|REF_RGD_ID:8142377 8781804 Ifng interferon gamma gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:737488 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:7935058|REF_RGD_ID:10755754 8781804 Ifng interferon gamma gene DOID:13375 temporal arteritis severity ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:15675129|REF_RGD_ID:8157621 8781804 Ifng interferon gamma gene DOID:13515 tuberous sclerosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16845661 8781804 Ifng interferon gamma gene DOID:13636 Fanconi anemia ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24021704|REF_RGD_ID:11049161 8781804 Ifng interferon gamma gene DOID:1407 anterior uveitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:10227812|REF_RGD_ID:8157614 8781804 Ifng interferon gamma gene DOID:14115 toxic shock syndrome ISO RGD:737487 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:25403265|REF_RGD_ID:38455982 8781804 Ifng interferon gamma gene DOID:14176 selective IgG deficiency disease ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood leukocyte: PMID:9042436|REF_RGD_ID:10755693 8781804 Ifng interferon gamma gene DOID:14566 disease of cellular proliferation ISO RGD:737488 D RGD:9068941 20200609 RGD DNA:mutations:multiple: Csf2,Ifng,Il3 PMID:21537082|REF_RGD_ID:5686773 8781804 Ifng interferon gamma gene DOID:1459 hypothyroidism treatment ISO RGD:2866 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 8781804 Ifng interferon gamma gene DOID:1532 pleural disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 8781804 Ifng interferon gamma gene DOID:1557 hypersensitivity reaction type III disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1825860 8781804 Ifng interferon gamma gene DOID:1562 chromoblastomycosis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:29481557|REF_RGD_ID:14975102 8781804 Ifng interferon gamma gene DOID:1579 respiratory system disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937650 8781804 Ifng interferon gamma gene DOID:1612 breast cancer susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:15900487|REF_RGD_ID:8157615 8781804 Ifng interferon gamma gene DOID:1790 malignant mesothelioma ISO RGD:737487 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8781804 Ifng interferon gamma gene DOID:1793 pancreatic cancer ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19152246|REF_RGD_ID:2317258 8781804 Ifng interferon gamma gene DOID:1883 hepatitis C ISO RGD:737487 D RGD:7240710 20230505 OMIM 8781804 Ifng interferon gamma gene DOID:1883 hepatitis C ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatitis C virus infection, response to therapy of PMID:17215375 8781804 Ifng interferon gamma gene DOID:1884 viral hepatitis ISO RGD:737487 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 8781804 Ifng interferon gamma gene DOID:1909 melanoma ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9794839 8781804 Ifng interferon gamma gene DOID:1936 atherosclerosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9169506 8781804 Ifng interferon gamma gene DOID:2043 hepatitis B ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15994231|PMID:20610715 8781804 Ifng interferon gamma gene DOID:2048 autoimmune hepatitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 8781804 Ifng interferon gamma gene DOID:2123 tularemia ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26853540|REF_RGD_ID:14974256 8781804 Ifng interferon gamma gene DOID:2237 hepatitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 8781804 Ifng interferon gamma gene DOID:2377 multiple sclerosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 8781804 Ifng interferon gamma gene DOID:2377 multiple sclerosis susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:repeat:intron: (human) PMID:9818947|REF_RGD_ID:1358738 8781804 Ifng interferon gamma gene DOID:2556 relapsing polychondritis ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:ear PMID:17606507|REF_RGD_ID:6483833 8781804 Ifng interferon gamma gene DOID:2799 bronchiolitis obliterans ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16137903 8781804 Ifng interferon gamma gene DOID:2841 asthma ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20817868|REF_RGD_ID:4145651 8781804 Ifng interferon gamma gene DOID:2841 asthma ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:19542437|REF_RGD_ID:5128479 8781804 Ifng interferon gamma gene DOID:2841 asthma resistance ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:20953328|REF_RGD_ID:4145525 8781804 Ifng interferon gamma gene DOID:2841 asthma treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:12396623|REF_RGD_ID:10755706 8781804 Ifng interferon gamma gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:SNP: :874A>T (human) PMID:15718915|REF_RGD_ID:11049178 8781804 Ifng interferon gamma gene DOID:289 endometriosis ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:29477012|REF_RGD_ID:14974258 8781804 Ifng interferon gamma gene DOID:2921 glomerulonephritis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1825860 8781804 Ifng interferon gamma gene DOID:2921 glomerulonephritis ISO RGD:737487 D RGD:9068941 20200609 RGD associated with kidney transplantation;mRNA:increased expression:kidney PMID:21546865|REF_RGD_ID:6893462 8781804 Ifng interferon gamma gene DOID:2921 glomerulonephritis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:22495297|REF_RGD_ID:6893377 8781804 Ifng interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:9068941 20200702 RGD DNA:SNP:intron:+874A>T (rs2430561)(human) PMID:16672072|REF_RGD_ID:32716398 8781804 Ifng interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:9068941 20200702 RGD protein:increased expression:peripheral blood mononuclear cells (human) PMID:16781892|PMID:17872527|PMID:19526193|REF_RGD_ID:32716396|REF_RGD_ID:32716397|REF_RGD_ID:32716400 8781804 Ifng interferon gamma gene DOID:2945 severe acute respiratory syndrome ISO RGD:737487 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 8781804 Ifng interferon gamma gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:737487 D RGD:9068941 20200618 RGD DNA:polymorphism:cds:+874A>T(human) PMID:19258635|REF_RGD_ID:4891448 8781804 Ifng interferon gamma gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:737487 D RGD:9068941 20200702 RGD PMID:15865221|REF_RGD_ID:33769580 8781804 Ifng interferon gamma gene DOID:3042 allergic contact dermatitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11312644|PMID:12484431|PMID:15347381 8781804 Ifng interferon gamma gene DOID:3070 high grade glioma ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:10078962|REF_RGD_ID:727266 8781804 Ifng interferon gamma gene DOID:3265 chronic granulomatous disease ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:22883043|REF_RGD_ID:6893353 8781804 Ifng interferon gamma gene DOID:3310 atopic dermatitis ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:22101570|REF_RGD_ID:8157618 8781804 Ifng interferon gamma gene DOID:3310 atopic dermatitis ISO RGD:737487 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:18249437|PMID:33274957 8781804 Ifng interferon gamma gene DOID:3492 mixed connective tissue disease ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19684145|REF_RGD_ID:8142347 8781804 Ifng interferon gamma gene DOID:3611 acute retinal necrosis syndrome ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Herpes Zoster;protein:increased expression:vitreous humor: PMID:12928903|REF_RGD_ID:8142380 8781804 Ifng interferon gamma gene DOID:399 tuberculosis ISO RGD:737487 D RGD:7240710 20230505 OMIM 8781804 Ifng interferon gamma gene DOID:399 tuberculosis ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against PMID:10663562|PMID:11053629|PMID:12788577|PMID:18414898 8781804 Ifng interferon gamma gene DOID:417 autoimmune disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077085|PMID:9647229 8781804 Ifng interferon gamma gene DOID:418 systemic scleroderma treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:1418004|REF_RGD_ID:8157622 8781804 Ifng interferon gamma gene DOID:4481 allergic rhinitis ISO RGD:737487 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:29871060 8781804 Ifng interferon gamma gene DOID:4481 allergic rhinitis treatment ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:18510219|REF_RGD_ID:10755770 8781804 Ifng interferon gamma gene DOID:4481 allergic rhinitis treatment ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Asthma PMID:12787306|REF_RGD_ID:7829803 8781804 Ifng interferon gamma gene DOID:4692 endophthalmitis ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:16544114|REF_RGD_ID:7829753 8781804 Ifng interferon gamma gene DOID:5082 liver cirrhosis ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:12389079|REF_RGD_ID:10755749 8781804 Ifng interferon gamma gene DOID:5082 liver cirrhosis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:21664391|REF_RGD_ID:6893452 8781804 Ifng interferon gamma gene DOID:5199 ureteral obstruction ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:21216449|REF_RGD_ID:6893456 8781804 Ifng interferon gamma gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737487 D RGD:7240710 20230505 OMIM 8781804 Ifng interferon gamma gene DOID:530 eyelid disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17075842 8781804 Ifng interferon gamma gene DOID:552 pneumonia ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8781804 Ifng interferon gamma gene DOID:576 proteinuria ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246|PMID:8289579 8781804 Ifng interferon gamma gene DOID:5773 oral submucous fibrosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 8781804 Ifng interferon gamma gene DOID:6000 congestive heart failure ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20938210|PMID:3091246 8781804 Ifng interferon gamma gene DOID:6132 bronchitis resistance ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:20953328|REF_RGD_ID:4145525 8781804 Ifng interferon gamma gene DOID:630 genetic disease ISO RGD:737487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781804 Ifng interferon gamma gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to PMID:12854077 8781804 Ifng interferon gamma gene DOID:639 acute disseminated encephalomyelitis disease_progression ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:T cell: PMID:11063842|REF_RGD_ID:8157598 8781804 Ifng interferon gamma gene DOID:684 hepatocellular carcinoma ISO RGD:737488 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 8781804 Ifng interferon gamma gene DOID:7148 rheumatoid arthritis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 8781804 Ifng interferon gamma gene DOID:7148 rheumatoid arthritis ISO RGD:737487 D RGD:9068941 20221117 RGD mRNA:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 8781804 Ifng interferon gamma gene DOID:7148 rheumatoid arthritis treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:1417133|REF_RGD_ID:8157623 8781804 Ifng interferon gamma gene DOID:7188 autoimmune thyroiditis ISO RGD:2866 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid: PMID:10560963|REF_RGD_ID:10755769 8781804 Ifng interferon gamma gene DOID:7693 abdominal aortic aneurysm ISO RGD:2866 D RGD:9068941 20201002 RGD protein:increased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 8781804 Ifng interferon gamma gene DOID:813 septic arthritis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 8781804 Ifng interferon gamma gene DOID:8283 peritonitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19804847 8781804 Ifng interferon gamma gene DOID:8283 peritonitis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:28593696|REF_RGD_ID:14974254 8781804 Ifng interferon gamma gene DOID:83 cataract ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:8188461|REF_RGD_ID:8157612 8781804 Ifng interferon gamma gene DOID:8337 appendicitis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367942 8781804 Ifng interferon gamma gene DOID:850 lung disease ISO RGD:737487 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: PMID:24292748|REF_RGD_ID:36947872 8781804 Ifng interferon gamma gene DOID:8692 myeloid leukemia treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:20959405|REF_RGD_ID:10755686 8781804 Ifng interferon gamma gene DOID:8704 genital herpes ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:vaginal secretion: PMID:10366565|REF_RGD_ID:8158034 8781804 Ifng interferon gamma gene DOID:874 bacterial pneumonia severity ISO RGD:737488 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 8781804 Ifng interferon gamma gene DOID:8778 Crohn's disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 8781804 Ifng interferon gamma gene DOID:8778 Crohn's disease ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:28070144|REF_RGD_ID:14974261 8781804 Ifng interferon gamma gene DOID:9000099 Experimental Colitis ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:15030379|REF_RGD_ID:10755756 8781804 Ifng interferon gamma gene DOID:9000099 Experimental Colitis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:27498708|REF_RGD_ID:14975101 8781804 Ifng interferon gamma gene DOID:9000304 Manganese Poisoning ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18041089 8781804 Ifng interferon gamma gene DOID:9000469 Viral Myocarditis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:11092674|REF_RGD_ID:13702913 8781804 Ifng interferon gamma gene DOID:9000499 Alcoholic Intoxication treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:9514301|REF_RGD_ID:10755766 8781804 Ifng interferon gamma gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:2866 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:8690457|REF_RGD_ID:10755761 8781804 Ifng interferon gamma gene DOID:9000855 Experimental Radiation Injuries ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 8781804 Ifng interferon gamma gene DOID:9000972 Fever ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18282668|PMID:3091246 8781804 Ifng interferon gamma gene DOID:9001204 Dyspepsia treatment ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:28854971|REF_RGD_ID:14975120 8781804 Ifng interferon gamma gene DOID:9001415 Mycobacterium Infections ISO RGD:2866 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung PMID:19060451|REF_RGD_ID:2311490 8781804 Ifng interferon gamma gene DOID:9001455 Intestinal Helminthiasis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:29950724|REF_RGD_ID:14974257 8781804 Ifng interferon gamma gene DOID:9001472 Nasal Polyps ISO RGD:737487 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa, tissue: PMID:9149164|REF_RGD_ID:8158035 8781804 Ifng interferon gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12389079|PMID:15996030|PMID:16953842|PMID:17347453 8781804 Ifng interferon gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737488 D RGD:9068941 20201023 RGD protein:increased expression:serum (mouse) PMID:28465467|REF_RGD_ID:39939037 8781804 Ifng interferon gamma gene DOID:9001708 Hemorrhagic Shock ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19439114|REF_RGD_ID:2311495 8781804 Ifng interferon gamma gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:2866 D RGD:9068941 20230608 RGD PMID:23867624|REF_RGD_ID:329848996 8781804 Ifng interferon gamma gene DOID:9002165 Diabetic Nephropathies ISO RGD:737488 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, T cell PMID:22286547|REF_RGD_ID:6893364 8781804 Ifng interferon gamma gene DOID:9002170 Experimental Neoplasms ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15711825 8781804 Ifng interferon gamma gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism: :847A>T(human) PMID:19757192|REF_RGD_ID:10755703 8781804 Ifng interferon gamma gene DOID:9002315 Kidney Calculi ISO RGD:737488 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus; mRNA:increased expression:kidney PMID:21514417|REF_RGD_ID:6893463 8781804 Ifng interferon gamma gene DOID:9002457 Experimental Arthritis ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:12412757|REF_RGD_ID:2311498 8781804 Ifng interferon gamma gene DOID:9002457 Experimental Arthritis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382|PMID:22450443 8781804 Ifng interferon gamma gene DOID:9002457 Experimental Arthritis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:7774621|REF_RGD_ID:10755750 8781804 Ifng interferon gamma gene DOID:9002605 Delayed Hypersensitivity ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:3139020|REF_RGD_ID:8157617 8781804 Ifng interferon gamma gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:15661899|REF_RGD_ID:7987912 8781804 Ifng interferon gamma gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:22896638|REF_RGD_ID:10755692 8781804 Ifng interferon gamma gene DOID:9002928 Colonic Neoplasms ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10866311 8781804 Ifng interferon gamma gene DOID:9002955 Nerve Degeneration ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15153526|PMID:16307444|PMID:19457078 8781804 Ifng interferon gamma gene DOID:9003566 Mesothelioma ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12768194 8781804 Ifng interferon gamma gene DOID:9004009 Reperfusion Injury ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19514843|REF_RGD_ID:2308950 8781804 Ifng interferon gamma gene DOID:9004283 Transplant Rejection ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:22564629|REF_RGD_ID:7364833 8781804 Ifng interferon gamma gene DOID:9004484 Sepsis ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:27598601|REF_RGD_ID:14975121 8781804 Ifng interferon gamma gene DOID:9004484 Sepsis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9806674 8781804 Ifng interferon gamma gene DOID:9004484 Sepsis treatment ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:28711488|REF_RGD_ID:14974250 8781804 Ifng interferon gamma gene DOID:9004610 Acute Lung Injury ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:21767135|REF_RGD_ID:6480432 8781804 Ifng interferon gamma gene DOID:9004751 Nausea ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 8781804 Ifng interferon gamma gene DOID:9005099 Salmonella Infections, Animal ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002714 8781804 Ifng interferon gamma gene DOID:9005172 Lung Neoplasms ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7614408 8781804 Ifng interferon gamma gene DOID:9005236 Drug Eruptions ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 8781804 Ifng interferon gamma gene DOID:9005372 Inflammation ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21937650|PMID:22617429|PMID:23164921 8781804 Ifng interferon gamma gene DOID:9005372 Inflammation resistance ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:20953328|REF_RGD_ID:4145525 8781804 Ifng interferon gamma gene DOID:9005474 Experimental Sarcoma treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:2119881|REF_RGD_ID:10755752 8781804 Ifng interferon gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:20213480|REF_RGD_ID:5147915 8781804 Ifng interferon gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21340626 8781804 Ifng interferon gamma gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737488 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:18789669|REF_RGD_ID:2311492 8781804 Ifng interferon gamma gene DOID:9005749 Necrosis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10903806|PMID:10909967 8781804 Ifng interferon gamma gene DOID:9005930 Endotoxemia ISO RGD:2866 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9195172|REF_RGD_ID:10755747 8781804 Ifng interferon gamma gene DOID:9006024 Hypotension ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 8781804 Ifng interferon gamma gene DOID:9006190 Chronic Pancreatitis disease_progression ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:11345142|REF_RGD_ID:10755767 8781804 Ifng interferon gamma gene DOID:9006205 Animal Disease Models ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16845661 8781804 Ifng interferon gamma gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:28355607|REF_RGD_ID:14975115 8781804 Ifng interferon gamma gene DOID:9006449 Chills ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 8781804 Ifng interferon gamma gene DOID:9006635 Hyponatremia ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 8781804 Ifng interferon gamma gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:2866 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:eye: PMID:1572694|REF_RGD_ID:8142388 8781804 Ifng interferon gamma gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737487 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 8781804 Ifng interferon gamma gene DOID:9006941 Corneal Perforation ISO RGD:737488 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:corneal PMID:15832292|REF_RGD_ID:8157597 8781804 Ifng interferon gamma gene DOID:9007096 Stroke ISO RGD:737487 D RGD:9068941 20230225 RGD mRNA:decreased expression:lymphocyte PMID:31465536|REF_RGD_ID:156430320 8781804 Ifng interferon gamma gene DOID:9007355 Hashimoto Disease severity ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:+874A>T(human) PMID:16820703|REF_RGD_ID:8142375 8781804 Ifng interferon gamma gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12153990|PMID:21245496 8781804 Ifng interferon gamma gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:30013034|REF_RGD_ID:14975100 8781804 Ifng interferon gamma gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:737488 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 8781804 Ifng interferon gamma gene DOID:9008163 Chronic Hepatitis B ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:26684441|REF_RGD_ID:14974255 8781804 Ifng interferon gamma gene DOID:9008163 Chronic Hepatitis B ISO RGD:737487 D RGD:9068941 20201023 RGD protein:decreased expression:serum (human) PMID:28465467|REF_RGD_ID:39939037 8781804 Ifng interferon gamma gene DOID:9008207 Chronic Thyroiditis susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:+874A>T(human) PMID:16970687|REF_RGD_ID:8157599 8781804 Ifng interferon gamma gene DOID:9008385 Vomiting ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3091246 8781804 Ifng interferon gamma gene DOID:9008821 Otitis Media with Effusion ISO RGD:737487 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:16055981|REF_RGD_ID:7987911 8781804 Ifng interferon gamma gene DOID:9008821 Otitis Media with Effusion ISO RGD:737488 D RGD:9068941 20200609 RGD protein:decreased expression:middle ear: PMID:15938212|REF_RGD_ID:8142354 8781804 Ifng interferon gamma gene DOID:9008865 Entamoebiasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 8781804 Ifng interferon gamma gene DOID:9008865 Entamoebiasis ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:29255076|REF_RGD_ID:14975099 8781804 Ifng interferon gamma gene DOID:9008939 Breast Neoplasms ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19446661 8781804 Ifng interferon gamma gene DOID:9065 leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374|PMID:17218153 8781804 Ifng interferon gamma gene DOID:9065 leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:2145107|REF_RGD_ID:7829781 8781804 Ifng interferon gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte,mononuclear PMID:22759859|REF_RGD_ID:6893373 8781804 Ifng interferon gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:737487 D RGD:9068941 20221117 RGD mRNA:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 8781804 Ifng interferon gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:737488 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:29925830|REF_RGD_ID:14974252 8781804 Ifng interferon gamma gene DOID:9111 cutaneous leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20102417|PMID:8154019|PMID:9234779 8781804 Ifng interferon gamma gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:737488 D RGD:9068941 20201211 RGD PMID:27999013|REF_RGD_ID:40890273 8781804 Ifng interferon gamma gene DOID:9123 eczema herpeticum ISO RGD:737487 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:peripheral mononuclear cell: PMID:21458658|REF_RGD_ID:6480259 8781804 Ifng interferon gamma gene DOID:9123 eczema herpeticum susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:haplotype:: PMID:21458658|REF_RGD_ID:6480259 8781804 Ifng interferon gamma gene DOID:9146 visceral leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1901333|PMID:7854095 8781804 Ifng interferon gamma gene DOID:9146 visceral leishmaniasis treatment ISO RGD:737488 D RGD:9068941 20201211 RGD PMID:27999013|PMID:3104456|REF_RGD_ID:40890273|REF_RGD_ID:8158041 8781804 Ifng interferon gamma gene DOID:9155 mucocutaneous leishmaniasis ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7854095 8781804 Ifng interferon gamma gene DOID:9201 lichen planus ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:3139020|REF_RGD_ID:8157617 8781804 Ifng interferon gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:737487 D RGD:9068941 20200609 RGD PMID:18852529|REF_RGD_ID:2311491 8781804 Ifng interferon gamma gene DOID:936 brain disease ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18282668 8781804 Ifng interferon gamma gene DOID:9362 status asthmaticus resistance ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:20817868|REF_RGD_ID:4145651 8781804 Ifng interferon gamma gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2866 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8781804 Ifng interferon gamma gene DOID:9620 vesicoureteral reflux ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:polymorphism: : 874T>A (human) PMID:22906585|REF_RGD_ID:6893460 8781804 Ifng interferon gamma gene DOID:9743 diabetic neuropathy ISO RGD:737487 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :874A>T (human) PMID:19608431|REF_RGD_ID:2311489 8781804 Ifng interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:2866 D RGD:9068941 20200609 RGD PMID:8977415|REF_RGD_ID:10755748 8781804 Ifng interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:737487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21340626 8781804 Ifng interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:737488 D RGD:9068941 20200609 RGD PMID:18644830|REF_RGD_ID:2311493 8781804 Ifng interferon gamma gene DOID:9744 type 1 diabetes mellitus ISO RGD:737488 D RGD:9068941 20220825 MouseDO OMIM:222100 8781804 Ifng interferon gamma gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:737487 D RGD:9068941 20200609 RGD DNA:SNP: :rs2069727(human) PMID:21067287|REF_RGD_ID:10755691 8781804 Ifng interferon gamma gene DOID:9970 obesity ISO RGD:2866 D RGD:9068941 20200609 RGD associated with Asthma;protein:increased expression:serum PMID:19575934|REF_RGD_ID:2311494 8781812 Apoc2 apolipoprotein C2 gene DOID:0111418 familial apolipoprotein C-II deficiency ISO RGD:1352001 D RGD:7240710 20191106 OMIM 8781812 Apoc2 apolipoprotein C2 gene DOID:0111418 familial apolipoprotein C-II deficiency ISO RGD:1352001 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial apolipoprotein C-II deficiency PMID:12783430|PMID:1349286|PMID:1628605|PMID:1782747|PMID:1971748|PMID:213719|PMID:22135386|PMID:2477392|PMID:24788417|PMID:24886863|PMID:25741868|PMID:25910212|PMID:2592354|PMID:28492532|PMID:29100061|PMID:30197986|PMID:30686043|PMID:30793526|PMID:3192518|PMID:3225819|PMID:3263393|PMID:32861330|PMID:33111339|PMID:33116287|PMID:3467353|PMID:3680515|PMID:3944267|PMID:3944271|PMID:7815420|PMID:7923858|PMID:8323539|PMID:8490626 8781812 Apoc2 apolipoprotein C2 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:1782747|REF_RGD_ID:1599175 8781812 Apoc2 apolipoprotein C2 gene DOID:1184 nephrotic syndrome ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8366982|REF_RGD_ID:2313970 8781812 Apoc2 apolipoprotein C2 gene DOID:1390 hypobetalipoproteinemia ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:2242096|REF_RGD_ID:1601212 8781812 Apoc2 apolipoprotein C2 gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:1352001 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA PMID:12783430|PMID:1349286|PMID:1628605|PMID:1782747|PMID:1971748|PMID:213719|PMID:22135386|PMID:2477392|PMID:24788417|PMID:24886863|PMID:25741868|PMID:25910212|PMID:2592354|PMID:28492532|PMID:29100061|PMID:30197986|PMID:30686043|PMID:30793526|PMID:3225819|PMID:3263393|PMID:32861330|PMID:33111339|PMID:33116287|PMID:3467353|PMID:3680515|PMID:3944267|PMID:3944271|PMID:7815420|PMID:7923858|PMID:8323539|PMID:8490626 8781812 Apoc2 apolipoprotein C2 gene DOID:2377 multiple sclerosis ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:10335523|REF_RGD_ID:1358408 8781812 Apoc2 apolipoprotein C2 gene DOID:3146 lipid metabolism disorder no_association ISO RGD:1352001 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.K19T (human) PMID:7923858|REF_RGD_ID:1601206 8781812 Apoc2 apolipoprotein C2 gene DOID:630 genetic disease ISO RGD:1352001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781812 Apoc2 apolipoprotein C2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352001 D RGD:9068941 20220908 RGD associated with hepatitis B; mRNA:increased expression:liver PMID:31211449|REF_RGD_ID:153350082 8781812 Apoc2 apolipoprotein C2 gene DOID:783 end stage renal disease ISO RGD:1352001 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:8139482|REF_RGD_ID:2313968 8781812 Apoc2 apolipoprotein C2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:7590197|REF_RGD_ID:1601205 8781812 Apoc2 apolipoprotein C2 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD associated with Hypertriglyceridemia;DNA:missense mutation: :p.K38Q (human) PMID:8490626|REF_RGD_ID:1601207 8781812 Apoc2 apolipoprotein C2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1352001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8781812 Apoc2 apolipoprotein C2 gene DOID:9004590 Acute Liver Failure ISO RGD:1352001 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 8781812 Apoc2 apolipoprotein C2 gene DOID:9005236 Drug Eruptions ISO RGD:1352001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 8781812 Apoc2 apolipoprotein C2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:3944267|REF_RGD_ID:1601214 8781812 Apoc2 apolipoprotein C2 gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD PMID:7590197|REF_RGD_ID:1601205 8781812 Apoc2 apolipoprotein C2 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1468157|REF_RGD_ID:1601208 8781812 Apoc2 apolipoprotein C2 gene DOID:9007571 Hyperlipoproteinemias susceptibility ISO RGD:1352001 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.L72P (human) PMID:16153625|REF_RGD_ID:1601204 8781812 Apoc2 apolipoprotein C2 gene DOID:9351 diabetes mellitus ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2352345|REF_RGD_ID:2313973 8781812 Apoc2 apolipoprotein C2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12733353|PMID:3757210|REF_RGD_ID:2313953|REF_RGD_ID:2313966 8781812 Apoc2 apolipoprotein C2 gene DOID:9970 obesity ISO RGD:1352001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9002300|REF_RGD_ID:1601191 8781826 Jade1 jade family PHD finger 1 gene DOID:630 genetic disease ISO RGD:1315809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781863 Rnf157 ring finger protein 157 gene DOID:630 genetic disease ISO RGD:1348356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781863 Rnf157 ring finger protein 157 gene DOID:684 hepatocellular carcinoma ISO RGD:1348356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8781899 Hoxb13 homeobox B13 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1319269 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:19250546|REF_RGD_ID:2314726 8781899 Hoxb13 homeobox B13 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1319269 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8781899 Hoxb13 homeobox B13 gene DOID:10283 prostate cancer ISO RGD:1319269 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:15583692|REF_RGD_ID:2314731 8781899 Hoxb13 homeobox B13 gene DOID:10534 stomach cancer ISO RGD:1319269 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:28492532|PMID:36988593 8781899 Hoxb13 homeobox B13 gene DOID:1380 endometrial cancer ISO RGD:1319269 D RGD:9068941 20200609 RGD PMID:15756448|REF_RGD_ID:2314730 8781899 Hoxb13 homeobox B13 gene DOID:1909 melanoma ISO RGD:1319269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 8781899 Hoxb13 homeobox B13 gene DOID:4362 cervical cancer ISO RGD:1319269 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:16803519|REF_RGD_ID:2314728 8781899 Hoxb13 homeobox B13 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1319269 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16278676|REF_RGD_ID:2314729 8781899 Hoxb13 homeobox B13 gene DOID:4905 pancreatic carcinoma ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:32546843|PMID:8756292 8781899 Hoxb13 homeobox B13 gene DOID:630 genetic disease ISO RGD:1319269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781899 Hoxb13 homeobox B13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319269 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:23104005|PMID:24239177|PMID:24390282|PMID:26457646|PMID:32690948|PMID:35468964 8781899 Hoxb13 homeobox B13 gene DOID:9003452 Prostate Cancer, Hereditary, 9 ISO RGD:1319269 D RGD:7240710 20190315 OMIM 8781899 Hoxb13 homeobox B13 gene DOID:9003452 Prostate Cancer, Hereditary, 9 ISO RGD:1319269 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 9 PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32546843|PMID:8756292 8781899 Hoxb13 homeobox B13 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1319269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8781899 Hoxb13 homeobox B13 gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1319269 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8781899 Hoxb13 homeobox B13 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer susceptibility PMID:15964834|PMID:17138648|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27902461|PMID:28050579|PMID:28492532|PMID:28798948|PMID:30527799|PMID:30560549|PMID:32546843|PMID:8756292 8781899 Hoxb13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:31214711|PMID:32040869|PMID:32546843|PMID:8756292|PMID:9536098 8781899 Hoxb13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:8756292|PMID:9536098 8781899 Hoxb13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:8756292|PMID:9536098 8781899 Hoxb13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22423909|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23104005|PMID:23129385|PMID:23292082|PMID:23457453|PMID:23518396|PMID:23535732|PMID:24026887|PMID:24148311|PMID:24497837|PMID:24550738|PMID:24740154|PMID:24818853|PMID:25206306|PMID:25629170|PMID:25741868|PMID:25874003|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26604137|PMID:26845104|PMID:26967244|PMID:27153395|PMID:27262462|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27814745|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28166811|PMID:28272408|PMID:28492532|PMID:28598379|PMID:28798948|PMID:29181843|PMID:29740894|PMID:29892050|PMID:29915322|PMID:30397198|PMID:30527799|PMID:30560549|PMID:30665703|PMID:30777372|PMID:31214711|PMID:31226226|PMID:31556563|PMID:32040869|PMID:32338768|PMID:32546843|PMID:32830201|PMID:8756292|PMID:9536098 8781899 Hoxb13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34799695|PMID:35031163|PMID:36988593|PMID:8756292|PMID:9536098 8781899 Hoxb13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26343386|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:31785789|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34609407|PMID:34799695|PMID:35031163|PMID:36243179|PMID:36988593|PMID:8756292|PMID:9536098 8781899 Hoxb13 homeobox B13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319269 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:15964834|PMID:17138648|PMID:17576681|PMID:22236224|PMID:22714738|PMID:22781434|PMID:22841674|PMID:22853031|PMID:23064873|PMID:23292082|PMID:23457453|PMID:23518396|PMID:24026887|PMID:25206306|PMID:25629170|PMID:25741868|PMID:26108461|PMID:26176944|PMID:26343386|PMID:26467025|PMID:26517352|PMID:26845104|PMID:27153395|PMID:27424772|PMID:27626483|PMID:27701467|PMID:27902461|PMID:28050579|PMID:28072499|PMID:28272408|PMID:28492532|PMID:28798948|PMID:29181843|PMID:29471853|PMID:29740894|PMID:30527799|PMID:30560549|PMID:31214711|PMID:31785789|PMID:32040869|PMID:32338768|PMID:32546843|PMID:34609407|PMID:34799695|PMID:35031163|PMID:36095024|PMID:36243179|PMID:36988593|PMID:8756292|PMID:9536098 8781899 Hoxb13 homeobox B13 gene DOID:9008939 Breast Neoplasms ISO RGD:1319269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 8781899 Hoxb13 homeobox B13 gene DOID:9008939 Breast Neoplasms ISO RGD:1319269 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:19250546|REF_RGD_ID:2314726 8781899 Hoxb13 homeobox B13 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1319269 D RGD:9068941 20200609 RGD PMID:17453342|REF_RGD_ID:2314727 8781905 Exog exo/endonuclease G gene DOID:0050451 Brugada syndrome ISO RGD:1312174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 8781905 Exog exo/endonuclease G gene DOID:630 genetic disease ISO RGD:1312174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781905 Exog exo/endonuclease G gene DOID:9001436 Immunodeficiency 68 ISO RGD:1312174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 8781905 Exog exo/endonuclease G gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1312174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8781926 Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:1347149 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 8781926 Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:3883 Lynch syndrome ISO RGD:1347149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome 8781926 Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:630 genetic disease ISO RGD:1347149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781926 Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8781935 Lrrc42 leucine rich repeat containing 42 gene DOID:630 genetic disease ISO RGD:1604548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781993 Slc22a7 solute carrier family 22 member 7 gene DOID:0050444 infantile Refsum disease ISO RGD:732686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8781993 Slc22a7 solute carrier family 22 member 7 gene DOID:630 genetic disease ISO RGD:732686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8781993 Slc22a7 solute carrier family 22 member 7 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732686 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs2270860|rs4149178 (human) PMID:28347776|REF_RGD_ID:152995291 8781993 Slc22a7 solute carrier family 22 member 7 gene DOID:905 Zellweger syndrome ISO RGD:732686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8782011 Arhgef40 Rho guanine nucleotide exchange factor 40 gene DOID:10283 prostate cancer ISO RGD:1603998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8782011 Arhgef40 Rho guanine nucleotide exchange factor 40 gene DOID:2661 myoepithelioma ISO RGD:1603998 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8782011 Arhgef40 Rho guanine nucleotide exchange factor 40 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1603998 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8782011 Arhgef40 Rho guanine nucleotide exchange factor 40 gene DOID:630 genetic disease ISO RGD:1603998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782011 Arhgef40 Rho guanine nucleotide exchange factor 40 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1603998 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8782045 Dapl1 death associated protein like 1 gene DOID:630 genetic disease ISO RGD:1603932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782053 Ppp1r16a protein phosphatase 1 regulatory subunit 16A gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317459 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 8782053 Ppp1r16a protein phosphatase 1 regulatory subunit 16A gene DOID:4621 holoprosencephaly ISO RGD:1317459 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8782053 Ppp1r16a protein phosphatase 1 regulatory subunit 16A gene DOID:630 genetic disease ISO RGD:1317459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782082 C1r complement C1r gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1319235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8782082 C1r complement C1r gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8782082 C1r complement C1r gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8782082 C1r complement C1r gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8782082 C1r complement C1r gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1319235 D RGD:7240710 20190315 OMIM 8782082 C1r complement C1r gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1319235 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 PMID:12776252|PMID:2260589|PMID:22739343|PMID:25741868|PMID:27663155|PMID:27745832|PMID:33268848|PMID:34324282|PMID:890102 8782082 C1r complement C1r gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1319235 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 PMID:12776252|PMID:2260589|PMID:22739343|PMID:25741868|PMID:27663155|PMID:27745832|PMID:890102 8782082 C1r complement C1r gene DOID:0111621 Temtamy syndrome ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8782082 C1r complement C1r gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome 8782082 C1r complement C1r gene DOID:289 endometriosis ISO RGD:1319235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8782082 C1r complement C1r gene DOID:8725 vascular dementia ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:25741868|PMID:33268848|PMID:35307828 8782082 C1r complement C1r gene DOID:9003565 Paratuberculosis ISO RGD:1319235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 8782082 C1r complement C1r gene DOID:9007096 Stroke ISO RGD:1319235 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 8782082 C1r complement C1r gene DOID:9007692 Insulin Resistance ISO RGD:1319235 D RGD:9068941 20200609 RGD protein:increased expression:adipocyte PMID:17244723|REF_RGD_ID:1600551 8782082 C1r complement C1r gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8782102 Arap2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 gene DOID:630 genetic disease ISO RGD:1315077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0050753 cerebellar ataxia ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:19289823|PMID:19420365|PMID:20651251|PMID:20807765|PMID:32581362 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060178 familial hemiplegic migraine ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060484 EAST syndrome ISO RGD:731912 D RGD:7240710 20180130 OMIM 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060484 EAST syndrome ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome PMID:19289823|PMID:19420365|PMID:19426954|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21221631|PMID:21458570|PMID:21849804|PMID:22612257|PMID:22782654|PMID:23869231|PMID:23918157|PMID:23924083|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24480364|PMID:24561201|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27182706|PMID:27500072|PMID:27535533|PMID:27677466|PMID:27875746|PMID:27884173|PMID:28492532|PMID:28747464|PMID:28835827|PMID:29191078|PMID:29615871|PMID:30304693|PMID:30733538|PMID:32062759|PMID:32233732|PMID:32581362|PMID:33084218 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0060744 Pendred syndrome ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome PMID:19289823|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:22612257|PMID:23869231|PMID:23924083|PMID:24193250|PMID:24561201|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27677466|PMID:27875746|PMID:28492532|PMID:28747464|PMID:32062759 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:731912 D RGD:7240710 20180130 OMIM 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:19289823|PMID:19426954|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21458570|PMID:21849804|PMID:22612257|PMID:23869231|PMID:23918157|PMID:23924083|PMID:24193250|PMID:24378235|PMID:24561201|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:26867573|PMID:27171548|PMID:27677466|PMID:27875746|PMID:28492532|PMID:28747464|PMID:30733538|PMID:32062759|PMID:32233732 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:10003 sensorineural hearing loss ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1059 intellectual disability ISO RGD:731912 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23869231|PMID:24378235|PMID:25741868|PMID:26467025|PMID:27677466|PMID:27875746|PMID:28492532 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1206 Rett syndrome ISO RGD:62113 D RGD:9068941 20200609 RGD protein:increased expression:locus ceruleus PMID:21307341|REF_RGD_ID:8662896 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:12849 autistic disorder ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21458570|PMID:23965030|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:29615871|PMID:30304693 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:13141 uveitis ISO RGD:61822 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:17356517|REF_RGD_ID:8662881 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1540 parathyroid carcinoma ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1727 retinal vein occlusion ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1826 epilepsy ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:21458570|PMID:23965030|PMID:24378235|PMID:25741868|PMID:26467025|PMID:27182706|PMID:27535533|PMID:27677466|PMID:27884173|PMID:28492532|PMID:29615871|PMID:30304693 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:1826 epilepsy ISO RGD:731912 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:24378235|PMID:26467025|PMID:28492532 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:224 transient cerebral ischemia ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:CA1 field of hippocampus, astrocyte, astrocyte projection PMID:20833221|REF_RGD_ID:8662899 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:2377 multiple sclerosis ISO RGD:731912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24070676 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:2548 reflex epilepsy treatment ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:30813600|REF_RGD_ID:14995940 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:2661 myoepithelioma ISO RGD:731912 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:3213 demyelinating disease ISO RGD:62113 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, blood vessel PMID:24070676|REF_RGD_ID:8662892 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:brainstem PMID:22987392|REF_RGD_ID:8662893 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:574 peripheral nervous system disease ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:630 genetic disease ISO RGD:731912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19289823|PMID:20651251|PMID:20678478|PMID:20807765|PMID:21088294|PMID:21221631|PMID:21458570|PMID:23869231|PMID:23918157|PMID:23924083|PMID:23965030|PMID:24193250|PMID:24378235|PMID:24480364|PMID:24860705|PMID:25372295|PMID:25741868|PMID:26467025|PMID:27171548|PMID:27182706|PMID:27500072|PMID:27535533|PMID:27677466|PMID:27875746|PMID:27884173|PMID:28492532|PMID:29191078|PMID:29615871|PMID:30304693|PMID:32062759|PMID:32233732 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection PMID:23603404|REF_RGD_ID:8662897 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:8466 retinal degeneration ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:22055109|REF_RGD_ID:8662888 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:870 neuropathy ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:8947 diabetic retinopathy treatment ISO RGD:61822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21672350|PMID:22143324|REF_RGD_ID:8662869|REF_RGD_ID:8662907 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61822 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:20375134|REF_RGD_ID:8662905 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:22420318|REF_RGD_ID:8662908 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9000998 Brain Injuries ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:20861444|REF_RGD_ID:8662901 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:61822 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:16330144|REF_RGD_ID:8662868 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:62113 D RGD:9068941 20200609 RGD protein:decreased expression:retina, blood vessel PMID:20132867|REF_RGD_ID:8662890 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9004538 Hearing Loss ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868|PMID:26467025|PMID:27171548|PMID:28492532 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9004590 Acute Liver Failure ISO RGD:61822 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex PMID:21538466|REF_RGD_ID:8662894 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9006534 Nervous System Malformations ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9008091 Optic Nerve Injuries ISO RGD:61822 D RGD:9068941 20200609 RGD PMID:20216911|REF_RGD_ID:2326035 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9008681 Deafness ISO RGD:62113 D RGD:9068941 20200609 RGD PMID:12618319|REF_RGD_ID:8662867 8782144 Kcnj10 potassium inwardly rectifying channel subfamily J member 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8782150 Casd1 CAS1 domain containing 1 gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1603612 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:10220438|PMID:10716258|PMID:11022010|PMID:11523564|PMID:11528394|PMID:12325078|PMID:12391338|PMID:12391355|PMID:12402271|PMID:12743249|PMID:12821748|PMID:12874409|PMID:15079037|PMID:15389977|PMID:15728306|PMID:16199547|PMID:16227522|PMID:16240355|PMID:17101905|PMID:17296918|PMID:17576681|PMID:17853490|PMID:18175340|PMID:18205193|PMID:18349702|PMID:18355305|PMID:18362280|PMID:19117362|PMID:19147379|PMID:21796726|PMID:22026499|PMID:22259621|PMID:23365103|PMID:2367709|PMID:23677909|PMID:23748201|PMID:24297365|PMID:24759409|PMID:25034659|PMID:25150291|PMID:25401298|PMID:25741868|PMID:26467025|PMID:28155872|PMID:28492532|PMID:29607243|PMID:30849405|PMID:32927286|PMID:33200041|PMID:9536098|PMID:9750929 8782150 Casd1 CAS1 domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1603612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8782150 Casd1 CAS1 domain containing 1 gene DOID:480 movement disease ISO RGD:1603612 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:25741868|PMID:28492532 8782150 Casd1 CAS1 domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8782150 Casd1 CAS1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1603612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11528394|PMID:12821748|PMID:15389977|PMID:15728306|PMID:17296918|PMID:17853490|PMID:18205193|PMID:23748201|PMID:24297365|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9750929 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:10283 prostate cancer ISO RGD:735585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:114 heart disease ISO RGD:735585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15247211 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:14330 Parkinson's disease ISO RGD:735585 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:brain (human) PMID:24395787|REF_RGD_ID:8693390 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:2841 asthma ISO RGD:735585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22205926 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:6000 congestive heart failure ISO RGD:735585 D RGD:9068941 20200609 RGD mRNA:increased expression:vastus lateralis muscle (human) PMID:14567976|REF_RGD_ID:8693707 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:735585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3380 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:2562181|REF_RGD_ID:8693574 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9002211 Hyperalgesia ISO RGD:3380 D RGD:9068941 20200609 RGD PMID:26732138|REF_RGD_ID:11572421 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9006344 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities ISO RGD:735585 D RGD:7240710 20190424 OMIM 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9006344 Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities ISO RGD:735585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder and language delay with or without structural brain abnormalities PMID:25741868|PMID:28333917|PMID:28492532|PMID:29051493|PMID:30595372 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735585 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8782177 Ppp2ca protein phosphatase 2 catalytic subunit alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:3380 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, quadriceps, epididymal fat pad (rat) PMID:22087313|REF_RGD_ID:8693665 8782196 Lmbr1l limb development membrane protein 1 like gene DOID:630 genetic disease ISO RGD:1603995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782217 Prph peripherin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:733911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:25741868 8782217 Prph peripherin gene DOID:0060193 amyotrophic lateral sclerosis type 1 susceptibility ISO RGD:733911 D RGD:7240710 20230505 OMIM 8782217 Prph peripherin gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:733911 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:25741868 8782217 Prph peripherin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733911 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to PMID:15322088|PMID:15446584|PMID:25741868|PMID:28492532|PMID:32638105 8782217 Prph peripherin gene DOID:630 genetic disease ISO RGD:733911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8782229 LOC102016503 cytochrome b ascorbate-dependent protein 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8782229 LOC102016503 cytochrome b ascorbate-dependent protein 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350964 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis 8782229 LOC102016503 cytochrome b ascorbate-dependent protein 3 gene DOID:1059 intellectual disability ISO RGD:1350964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8782229 LOC102016503 cytochrome b ascorbate-dependent protein 3 gene DOID:630 genetic disease ISO RGD:1350964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782246 Anapc5 anaphase promoting complex subunit 5 gene DOID:630 genetic disease ISO RGD:1314558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782306 Lipj lipase family member J gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1603579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 8782306 Lipj lipase family member J gene DOID:630 genetic disease ISO RGD:1603579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782306 Lipj lipase family member J gene DOID:783 end stage renal disease ISO RGD:1603579 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:28492532 8782327 Malsu1 mitochondrial assembly of ribosomal large subunit 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8782327 Malsu1 mitochondrial assembly of ribosomal large subunit 1 gene DOID:630 genetic disease ISO RGD:1315834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782340 Sox7 SRY-box transcription factor 7 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1320708 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 8782340 Sox7 SRY-box transcription factor 7 gene DOID:630 genetic disease ISO RGD:1320707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782340 Sox7 SRY-box transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8782346 Lrrc10 leucine rich repeat containing 10 gene DOID:0060224 atrial fibrillation ISO RGD:1348592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8782346 Lrrc10 leucine rich repeat containing 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28166811|PMID:28492532 8782346 Lrrc10 leucine rich repeat containing 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348592 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8782346 Lrrc10 leucine rich repeat containing 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348592 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28032242|PMID:28492532 8782346 Lrrc10 leucine rich repeat containing 10 gene DOID:6000 congestive heart failure ISO RGD:1348592 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8782346 Lrrc10 leucine rich repeat containing 10 gene DOID:630 genetic disease ISO RGD:1348592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8782351 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8782351 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321748 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8782351 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:0110842 Usher syndrome type 3B ISO RGD:1321748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:28492532 8782351 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:3305 teratocarcinoma ISO RGD:1583648 D RGD:9068941 20210827 RGD compared to WKY PMID:22655094|REF_RGD_ID:40924659 8782351 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:630 genetic disease ISO RGD:1321748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782351 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8782351 Dnd1 DND microRNA-mediated repression inhibitor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321748 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:0050580 hereditary lymphedema ISO RGD:733488 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Primary congenital lymphedema PMID:16965327|PMID:25741868 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:0070210 hereditary lymphedema IA ISO RGD:733488 D RGD:7240710 20180912 OMIM 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:0070210 hereditary lymphedema IA ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:10835628|PMID:10856194|PMID:16924388|PMID:16965327|PMID:19289394|PMID:24033266|PMID:25741868|PMID:9817924 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:0070212 hereditary lymphedema I ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:10835628|PMID:10856194|PMID:16924388|PMID:16965327|PMID:19289394|PMID:24033266|PMID:25741868|PMID:9817924 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:733488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:1475 lymphangioma ISO RGD:733488 D RGD:9068941 20200609 RGD protein:increased expression:;lymphatic endothelial cell: PMID:17584927|REF_RGD_ID:8552338 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:1520 colon carcinoma ISO RGD:733488 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25741868|PMID:28492532 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:3307 teratoma ISO RGD:733488 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:733488 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:418 systemic scleroderma ISO RGD:733488 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:21865112|REF_RGD_ID:8552335 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:733488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25239121 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:4977 lymphedema ISO RGD:733488 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Early onset lymphedema PMID:16965327|PMID:25741868 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:630 genetic disease ISO RGD:733488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19002718|PMID:24167460|PMID:25741868|PMID:28492532 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:6419 tetralogy of Fallot ISO RGD:733488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28991257 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:9001525 Congenital Heart Defects, Multiple Types, 7 ISO RGD:733488 D RGD:7240710 20200226 OMIM 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:9001525 Congenital Heart Defects, Multiple Types, 7 ISO RGD:733488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 PMID:23074044|PMID:24033266|PMID:25741868|PMID:28991257|PMID:30232381|PMID:30582441 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:733488 D RGD:7240710 20180130 OMIM 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:733488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Capillary infantile hemangioma PMID:11807987|PMID:25741868|PMID:28492532 8782359 Flt4 fms related receptor tyrosine kinase 4 gene DOID:9256 colorectal cancer ISO RGD:733488 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:11807987|PMID:25741868|PMID:28492532 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:0060478 Zika fever ISO RGD:1558600 D RGD:9068941 20200702 RGD PMID:30241539|REF_RGD_ID:32733625 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1605125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:1826 epilepsy ISO RGD:1605125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19558813 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:2377 multiple sclerosis ISO RGD:1605125 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:630 genetic disease ISO RGD:1605125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605125 D RGD:9068941 20200702 RGD DNA:hypomethylation: CpG islands: PMID:20165882|REF_RGD_ID:14694974 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:8557 oropharynx cancer disease_progression ISO RGD:1605125 D RGD:9068941 20200702 RGD PMID:31187548|REF_RGD_ID:32716423 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1605125 D RGD:9068941 20200702 RGD mRNA, protein:decreased expression:liver PMID:26234401|REF_RGD_ID:32716425 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1559716 D RGD:9068941 20200709 RGD PMID:29169414|PMID:30226536|REF_RGD_ID:34901873|REF_RGD_ID:35316073 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30538632 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:1559716 D RGD:9068941 20200702 RGD PMID:31836774|REF_RGD_ID:32733624 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1605125 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1559716 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1559716 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1605125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30538632 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:1559716 D RGD:9068941 20200709 RGD PMID:31007149|REF_RGD_ID:34888237 8782395 Ern1 endoplasmic reticulum to nucleus signaling 1 gene DOID:9452 steatotic liver disease treatment ISO RGD:1558600 D RGD:9068941 20231019 RGD PMID:27813192|REF_RGD_ID:401842386 8782418 Frmd7 FERM domain containing 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8782418 Frmd7 FERM domain containing 7 gene DOID:0111790 congenital nystagmus 1 ISO RGD:1352948 D RGD:7240710 20180130 OMIM 8782418 Frmd7 FERM domain containing 7 gene DOID:0111790 congenital nystagmus 1 ISO RGD:1352948 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked PMID:16020310|PMID:17013395|PMID:17768376|PMID:17893669|PMID:17962394|PMID:18087240|PMID:19072571|PMID:21303855|PMID:21746984|PMID:23020937|PMID:24513357|PMID:25678693|PMID:25741868|PMID:25916882|PMID:27081518|PMID:28492532|PMID:30015830|PMID:30025138|PMID:30942644 8782418 Frmd7 FERM domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1352948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8782418 Frmd7 FERM domain containing 7 gene DOID:630 genetic disease ISO RGD:1352948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26268155|PMID:28492532 8782418 Frmd7 FERM domain containing 7 gene DOID:8501 fundus dystrophy ISO RGD:1352948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 8782438 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8782438 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1316242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 8782438 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 8782438 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1316242 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8782438 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1316242 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8782438 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:9003397 Atrioventricular Septal Defect 5 ISO RGD:1316242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 5 PMID:22318994|PMID:28492532 8782438 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:9004515 Left Ventricular Noncompaction 7 ISO RGD:1316242 D RGD:7240710 20180130 OMIM 8782438 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:9004515 Left Ventricular Noncompaction 7 ISO RGD:1316242 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 7 | ClinVar Annotator: match by term: MIB1-related condition PMID:23314057|PMID:25741868|PMID:26188975|PMID:28492532|PMID:28530678|PMID:29540472|PMID:30322850|PMID:32880476|PMID:33057194 8782438 Mib1 MIB E3 ubiquitin protein ligase 1 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:1316242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation 8782463 Sfxn3 sideroflexin 3 gene DOID:630 genetic disease ISO RGD:1345797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782463 Sfxn3 sideroflexin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8782493 Plk5 polo like kinase 5 (inactive) gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:2302687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8782493 Plk5 polo like kinase 5 (inactive) gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:2302687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8782493 Plk5 polo like kinase 5 (inactive) gene DOID:5339 cyclic hematopoiesis ISO RGD:2302687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8782493 Plk5 polo like kinase 5 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2302687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8782524 Tmem128 transmembrane protein 128 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1602670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8782524 Tmem128 transmembrane protein 128 gene DOID:630 genetic disease ISO RGD:1602670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782539 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8782539 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:0050902 medulloblastoma ISO RGD:737234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8782539 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:737234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8782539 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:12849 autistic disorder ISO RGD:737234 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8782539 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:289 endometriosis ISO RGD:3951 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:17845203|REF_RGD_ID:2303708 8782539 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 8782539 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:614 lymphopenia ISO RGD:3951 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thymus PMID:10433093|REF_RGD_ID:2306005 8782539 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:737234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8782539 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:3951 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:2064726|REF_RGD_ID:2306008 8782539 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8782539 Vav1 vav guanine nucleotide exchange factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:3951 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thymus PMID:10433093|REF_RGD_ID:2306005 8782579 Arhgap35 Rho GTPase activating protein 35 gene DOID:0060673 Peters anomaly ISO RGD:1603059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:25741868|PMID:36450800 8782579 Arhgap35 Rho GTPase activating protein 35 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1603059 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 8782579 Arhgap35 Rho GTPase activating protein 35 gene DOID:10629 microphthalmia ISO RGD:1603059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral microphthalmos | ClinVar Annotator: match by term: Unilateral microphthalmos PMID:25741868|PMID:36450800 8782579 Arhgap35 Rho GTPase activating protein 35 gene DOID:3910 lung adenocarcinoma ISO RGD:1603059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 8782579 Arhgap35 Rho GTPase activating protein 35 gene DOID:630 genetic disease ISO RGD:1603059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782579 Arhgap35 Rho GTPase activating protein 35 gene DOID:9002049 Anophthalmia ISO RGD:1603059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868|PMID:36450800 8782579 Arhgap35 Rho GTPase activating protein 35 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603059 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33057194 8782605 Trak1 trafficking kinesin protein 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1604830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8782605 Trak1 trafficking kinesin protein 1 gene DOID:0112204 developmental and epileptic encephalopathy 68 ISO RGD:1604830 D RGD:7240710 20190315 OMIM 8782605 Trak1 trafficking kinesin protein 1 gene DOID:0112204 developmental and epileptic encephalopathy 68 ISO RGD:1604830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 68 PMID:25741868|PMID:28364549|PMID:28492532|PMID:28940097|PMID:29846532 8782605 Trak1 trafficking kinesin protein 1 gene DOID:13366 Stiff-Person syndrome ISO RGD:1317275 D RGD:9068941 20220825 MouseDO OMIM:184850 8782605 Trak1 trafficking kinesin protein 1 gene DOID:5419 schizophrenia ISO RGD:1604830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8782605 Trak1 trafficking kinesin protein 1 gene DOID:630 genetic disease ISO RGD:1604830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8782671 Hmgxb4 HMG-box containing 4 gene DOID:630 genetic disease ISO RGD:1314021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782713 Slc16a13 solute carrier family 16 member 13 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8782713 Slc16a13 solute carrier family 16 member 13 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8782713 Slc16a13 solute carrier family 16 member 13 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1354212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8782713 Slc16a13 solute carrier family 16 member 13 gene DOID:12177 common variable immunodeficiency ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8782713 Slc16a13 solute carrier family 16 member 13 gene DOID:2729 dyskeratosis congenita ISO RGD:1354212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8782713 Slc16a13 solute carrier family 16 member 13 gene DOID:630 genetic disease ISO RGD:1354212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782728 Plch2 phospholipase C eta 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8782728 Plch2 phospholipase C eta 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8782728 Plch2 phospholipase C eta 2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8782728 Plch2 phospholipase C eta 2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8782728 Plch2 phospholipase C eta 2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8782728 Plch2 phospholipase C eta 2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8782728 Plch2 phospholipase C eta 2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8782728 Plch2 phospholipase C eta 2 gene DOID:630 genetic disease ISO RGD:1346590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782728 Plch2 phospholipase C eta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8782728 Plch2 phospholipase C eta 2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8782728 Plch2 phospholipase C eta 2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8782767 Crabp2 cellular retinoic acid binding protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8782767 Crabp2 cellular retinoic acid binding protein 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8782767 Crabp2 cellular retinoic acid binding protein 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8782767 Crabp2 cellular retinoic acid binding protein 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:731412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8782767 Crabp2 cellular retinoic acid binding protein 2 gene DOID:14749 methylmalonic acidemia ISO RGD:731412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 8782767 Crabp2 cellular retinoic acid binding protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8782767 Crabp2 cellular retinoic acid binding protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8782767 Crabp2 cellular retinoic acid binding protein 2 gene DOID:630 genetic disease ISO RGD:731412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782767 Crabp2 cellular retinoic acid binding protein 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731412 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35442568 8782767 Crabp2 cellular retinoic acid binding protein 2 gene DOID:9002801 Recurrence ISO RGD:731412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8400267 8782767 Crabp2 cellular retinoic acid binding protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8782788 Zc3h12c zinc finger CCCH-type containing 12C gene DOID:0110034 X-linked Alport syndrome ISO RGD:1602083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:25741868 8782788 Zc3h12c zinc finger CCCH-type containing 12C gene DOID:1059 intellectual disability ISO RGD:1602083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8782788 Zc3h12c zinc finger CCCH-type containing 12C gene DOID:12704 ataxia telangiectasia ISO RGD:1602083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8782788 Zc3h12c zinc finger CCCH-type containing 12C gene DOID:630 genetic disease ISO RGD:1602083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782788 Zc3h12c zinc finger CCCH-type containing 12C gene DOID:8893 psoriasis ISO RGD:1602083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 8782788 Zc3h12c zinc finger CCCH-type containing 12C gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8782817 Mocos molybdenum cofactor sulfurase gene DOID:0060041 autism spectrum disorder ISO RGD:1318297 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:17368066 8782817 Mocos molybdenum cofactor sulfurase gene DOID:0070314 obstructive nephropathy ISO RGD:1616767 D RGD:9068941 20230720 MouseDO 8782817 Mocos molybdenum cofactor sulfurase gene DOID:0070453 xanthinuria type II ISO RGD:1318297 D RGD:7240710 20190315 OMIM 8782817 Mocos molybdenum cofactor sulfurase gene DOID:0070453 xanthinuria type II ISO RGD:1318297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Xanthinuria type II PMID:11302742|PMID:14624414|PMID:16199547|PMID:17368066|PMID:17576681|PMID:25741868|PMID:25967871|PMID:28492532|PMID:29935280|PMID:34440436|PMID:9536098 8782817 Mocos molybdenum cofactor sulfurase gene DOID:1059 intellectual disability ISO RGD:1318297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8782817 Mocos molybdenum cofactor sulfurase gene DOID:12450 pancytopenia ISO RGD:1318297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 8782817 Mocos molybdenum cofactor sulfurase gene DOID:2977 primary hyperoxaluria ISO RGD:1318297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:25741868 8782817 Mocos molybdenum cofactor sulfurase gene DOID:630 genetic disease ISO RGD:1318297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8782817 Mocos molybdenum cofactor sulfurase gene DOID:865 vasculitis ISO RGD:1318297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 8782817 Mocos molybdenum cofactor sulfurase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1318297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29935280 8782846 Plekho1 pleckstrin homology domain containing O1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8782846 Plekho1 pleckstrin homology domain containing O1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8782846 Plekho1 pleckstrin homology domain containing O1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8782846 Plekho1 pleckstrin homology domain containing O1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8782846 Plekho1 pleckstrin homology domain containing O1 gene DOID:3312 bipolar disorder ISO RGD:1606003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8782846 Plekho1 pleckstrin homology domain containing O1 gene DOID:5812 MHC class II deficiency ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8782846 Plekho1 pleckstrin homology domain containing O1 gene DOID:630 genetic disease ISO RGD:1606003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782846 Plekho1 pleckstrin homology domain containing O1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8782861 Immp2l inner mitochondrial membrane peptidase subunit 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1350569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 8782861 Immp2l inner mitochondrial membrane peptidase subunit 2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1350569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:25422445 8782861 Immp2l inner mitochondrial membrane peptidase subunit 2 gene DOID:12849 autistic disorder ISO RGD:1350569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401682 8782861 Immp2l inner mitochondrial membrane peptidase subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8782861 Immp2l inner mitochondrial membrane peptidase subunit 2 gene DOID:5419 schizophrenia ISO RGD:1350569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8782861 Immp2l inner mitochondrial membrane peptidase subunit 2 gene DOID:630 genetic disease ISO RGD:1350569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782871 Csad cysteine sulfinic acid decarboxylase gene DOID:630 genetic disease ISO RGD:732204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782871 Csad cysteine sulfinic acid decarboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8782912 Tle4 TLE family member 4, transcriptional corepressor gene DOID:305 carcinoma ISO RGD:733230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8782912 Tle4 TLE family member 4, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:733230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782912 Tle4 TLE family member 4, transcriptional corepressor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8782912 Tle4 TLE family member 4, transcriptional corepressor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8782912 Tle4 TLE family member 4, transcriptional corepressor gene DOID:9007102 Myocardial Ischemia ISO RGD:733230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8782942 Efnb1 ephrin B1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8782942 Efnb1 ephrin B1 gene DOID:0081044 frontonasal dysplasia ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15166289 8782942 Efnb1 ephrin B1 gene DOID:10534 stomach cancer disease_progression ISO RGD:737327 D RGD:9068941 20220811 RGD mRNA:increased expression:stomach (human) PMID:12136247|REF_RGD_ID:153323289 8782942 Efnb1 ephrin B1 gene DOID:12849 autistic disorder ISO RGD:737327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8782942 Efnb1 ephrin B1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:737327 D RGD:7240710 20180130 OMIM 8782942 Efnb1 ephrin B1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:737327 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Craniofrontonasal syndrome PMID:1468459|PMID:15124102|PMID:15166289|PMID:15959873|PMID:16685650|PMID:17576681|PMID:18043713|PMID:18391498|PMID:18627045|PMID:20565770|PMID:20643727|PMID:23335590|PMID:25486017|PMID:25741868|PMID:26586496|PMID:27194971|PMID:28492532|PMID:31837199|PMID:32240825|PMID:33288889|PMID:6627724|PMID:9536098 8782942 Efnb1 ephrin B1 gene DOID:1934 dysostosis ISO RGD:737327 D RGD:9068941 20200609 RGD DNA:missense mutations, deletion PMID:15124102|REF_RGD_ID:1599802 8782942 Efnb1 ephrin B1 gene DOID:2340 craniosynostosis ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15166289 8782942 Efnb1 ephrin B1 gene DOID:630 genetic disease ISO RGD:737327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11780069|PMID:15166289|PMID:15959873|PMID:16685650|PMID:18627045|PMID:27884935|PMID:31862858 8782942 Efnb1 ephrin B1 gene DOID:9003133 Hypertelorism ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15166289 8782942 Efnb1 ephrin B1 gene DOID:9005372 Inflammation ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098442 8782942 Efnb1 ephrin B1 gene DOID:9970 obesity ISO RGD:737327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098442 8782956 Ybx1 Y-box binding protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8782956 Ybx1 Y-box binding protein 1 gene DOID:630 genetic disease ISO RGD:732883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782956 Ybx1 Y-box binding protein 1 gene DOID:9000300 Refractory Anemia ISO RGD:732883 D RGD:9068941 20200609 RGD PMID:14604279|REF_RGD_ID:1580637 8782956 Ybx1 Y-box binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732883 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16012952 8782956 Ybx1 Y-box binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28077578 8782956 Ybx1 Y-box binding protein 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15703814 8782956 Ybx1 Y-box binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15703814 8782965 Bphl biphenyl hydrolase like gene DOID:630 genetic disease ISO RGD:1316844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782991 Psca prostate stem cell antigen gene DOID:0060071 pre-malignant neoplasm ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 8782991 Psca prostate stem cell antigen gene DOID:11054 urinary bladder cancer ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648920|PMID:20083643 8782991 Psca prostate stem cell antigen gene DOID:1724 duodenal ulcer ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387998 8782991 Psca prostate stem cell antigen gene DOID:4023 linitis plastica ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488030 8782991 Psca prostate stem cell antigen gene DOID:630 genetic disease ISO RGD:1321185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8782991 Psca prostate stem cell antigen gene DOID:9000217 Stomach Neoplasms ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488030|PMID:26098866 8782991 Psca prostate stem cell antigen gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16015594 8782991 Psca prostate stem cell antigen gene DOID:9008114 Helicobacter Infections ISO RGD:1321185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0050770 polycystic liver disease ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0080322 polycystic kidney disease ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:31395617 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1342764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1342764 D RGD:7240710 20180130 OMIM 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il PMID:15148656|PMID:15945070|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25966638|PMID:26453364|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617|PMID:35839600|PMID:9536098 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1342764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:630 genetic disease ISO RGD:1342764 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9001306 Gillessen-Kaesbach-Nishimura Dysplasia ISO RGD:1342764 D RGD:7240710 20190315 OMIM 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9001306 Gillessen-Kaesbach-Nishimura Dysplasia ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome PMID:25741868|PMID:25966638|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1342764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:25741868|PMID:26467025|PMID:27391121|PMID:28492532|PMID:31395617 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8783003 Alg9 ALG9 alpha-1,2-mannosyltransferase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1342764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8783038 Def8 differentially expressed in FDCP 8 homolog gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1603215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8783038 Def8 differentially expressed in FDCP 8 homolog gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1603215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8783038 Def8 differentially expressed in FDCP 8 homolog gene DOID:13636 Fanconi anemia ISO RGD:1603215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8783038 Def8 differentially expressed in FDCP 8 homolog gene DOID:630 genetic disease ISO RGD:1603215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:0080855 Parkinsonism ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:19368990|REF_RGD_ID:4891964 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:0081267 graft-versus-host disease severity ISO RGD:1352124 D RGD:9068941 20200609 RGD PMID:17264819|REF_RGD_ID:4892014 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:0110024 age related macular degeneration 12 ISO RGD:1352124 D RGD:7240710 20180130 OMIM 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:10754 otitis media susceptibility ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T280M (human) PMID:24718616|REF_RGD_ID:9491764 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:10762 portal hypertension ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:21347560|REF_RGD_ID:9491791 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:11382 corneal neovascularization ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:18322241|REF_RGD_ID:9365153 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:20524966|REF_RGD_ID:9354422 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:11446 sciatic neuropathy ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:15341587|REF_RGD_ID:1358720 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:20921832|REF_RGD_ID:9491396 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:11563 retinal vasculitis ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.V249I, p.T280M (human) PMID:16799040|REF_RGD_ID:9491394 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:16424189|REF_RGD_ID:4892016 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:12941892|REF_RGD_ID:4892018 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:13141 uveitis ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:increased expression:retina PMID:19648777|REF_RGD_ID:4891945 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1556 arthus reaction ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23470165|REF_RGD_ID:9068463 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1679 cystitis ISO RGD:620137 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium PMID:16651033|REF_RGD_ID:4891972 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1686 glaucoma ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:24989686|REF_RGD_ID:9384823 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1824 status epilepticus treatment ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:21481949|REF_RGD_ID:9491789 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:1936 atherosclerosis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23887641|REF_RGD_ID:9479739 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:224 transient cerebral ischemia ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus PMID:24447880|REF_RGD_ID:9491776 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:12600915|REF_RGD_ID:4891900 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2527 nephrosis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:19590241|REF_RGD_ID:4891946 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2841 asthma ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:SNPs: :p.V249I, rs2669849 (human) PMID:17082760|REF_RGD_ID:4891895 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2841 asthma ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:21037587|REF_RGD_ID:4891882 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2841 asthma no_association ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V249I, p.T280M (human) PMID:17505143|REF_RGD_ID:4891904 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2921 glomerulonephritis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:10432400|REF_RGD_ID:4892027 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:2921 glomerulonephritis ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:14605272|REF_RGD_ID:4891995 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:3310 atopic dermatitis ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:decreased expression:blood, leukocyte PMID:15131578|REF_RGD_ID:9491761 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:3310 atopic dermatitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:24821910|REF_RGD_ID:9491393 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:3612 retinitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:24142887|REF_RGD_ID:8661224 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:418 systemic scleroderma ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V249I, p.T280M (human) PMID:16584113|REF_RGD_ID:4891896 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:418 systemic scleroderma ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:increased expression:lung, skin PMID:15608300|REF_RGD_ID:4891898 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:418 systemic scleroderma ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23142052|REF_RGD_ID:9479741 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:11275 D RGD:9068941 20200609 RGD PMID:17652758|REF_RGD_ID:9491385 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T280M (human) PMID:15944936|REF_RGD_ID:9479078 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V249I (human) PMID:22816662|REF_RGD_ID:9491395 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.V249I, p.T280M (human) PMID:15208270|REF_RGD_ID:9491390 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration no_association ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T280M (human) PMID:22816662|REF_RGD_ID:9491395 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4448 macular degeneration no_association ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.V249I, p.T280M (rs3732379, rs3732378) (human) PMID:25050486|REF_RGD_ID:9491392 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:19590241|REF_RGD_ID:4891946 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:4992 optic nerve glioma onset ISO RGD:1552004 D RGD:9068941 20200609 RGD associated with Neurofibromatosis 1 PMID:23424002|REF_RGD_ID:9491391 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:5154 borna disease ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:12053272|REF_RGD_ID:4891998 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1352124 D RGD:7240710 20230505 OMIM 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:6000 congestive heart failure ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: paraventricular nucleus of hypothalamus PMID:24036597|REF_RGD_ID:9491792 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:6195 conjunctivitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:22692452|REF_RGD_ID:9491751 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1352124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:1352124 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:polymorphisms: :p.V249I, p.T280M (human) PMID:16584113|REF_RGD_ID:4891896 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17182651|REF_RGD_ID:4891893 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:649 prion disease ISO RGD:620137 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell PMID:11870871|REF_RGD_ID:4892001 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:8466 retinal degeneration ISO RGD:1352124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20361964 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:8466 retinal degeneration ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:22545116|REF_RGD_ID:9479077 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:8893 psoriasis ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:intron, cds: , p.T280M (human) PMID:17002687|REF_RGD_ID:9491384 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:900 hepatopulmonary syndrome treatment ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:22659346|REF_RGD_ID:9491778 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9000528 Coronary Disease ISO RGD:1352124 D RGD:7240710 20230505 OMIM 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9000528 Coronary Disease ISO RGD:1352124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 1 PMID:25741868 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9000641 Pain ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Bone Neoplasms PMID:20736819|REF_RGD_ID:4892020 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:1352124 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:16627550|REF_RGD_ID:4892015 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9001341 Chloracne ISO RGD:1352124 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:20609517|REF_RGD_ID:4891885 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:1552004 D RGD:9068941 20200609 RGD associated with Inflammation PMID:20524966|REF_RGD_ID:9354422 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:16324111|REF_RGD_ID:9387859 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental;protein:increased expression:lumbar spinal cord PMID:22647647|REF_RGD_ID:9491779 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Bone Neoplasms PMID:20736819|REF_RGD_ID:4892020 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:19959384|REF_RGD_ID:4891942 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:11465708|REF_RGD_ID:4892002 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620137 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17123734|REF_RGD_ID:4891969 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:16053521|PMID:24706865|REF_RGD_ID:4891973|REF_RGD_ID:9491767 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:22377584|REF_RGD_ID:8661752 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9004484 Sepsis ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:increased expression:lung, macrophage PMID:19733456|REF_RGD_ID:4144897 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9004538 Hearing Loss ISO RGD:1552004 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cochlea PMID:24781382|REF_RGD_ID:9491762 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005070 Microscopic Polyangiitis ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:19327232|REF_RGD_ID:9491765 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005372 Inflammation ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23299473|REF_RGD_ID:9375525 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005372 Inflammation ISO RGD:620137 D RGD:9068941 20200609 RGD associated with Temporomandibular Joint Disorders PMID:23110394|REF_RGD_ID:9491768 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005396 Intimal Hyperplasia ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:20836883|REF_RGD_ID:8661636 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620137 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15153757|REF_RGD_ID:4891992 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:19689733|REF_RGD_ID:9491397 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:16030495|REF_RGD_ID:9479740 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9005665 Chronic Mesangial Proliferative Glomerulonephritis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:12028445|REF_RGD_ID:9491783 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:620137 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21224760|REF_RGD_ID:4891907 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:18448252|REF_RGD_ID:4891968 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352124 D RGD:9068941 20200609 RGD PMID:18257903|REF_RGD_ID:4891891 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:SNP: :p.T280M (human) PMID:16645504|REF_RGD_ID:4891905 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1352124 D RGD:9068941 20200609 RGD protein:decreased expression:blood, monocyte PMID:15786508|REF_RGD_ID:4892017 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9008023 Memory Disorders ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:23855980|REF_RGD_ID:9491766 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1352124 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:21180278|REF_RGD_ID:6893428 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9351 diabetes mellitus ISO RGD:1552004 D RGD:9068941 20200609 RGD PMID:23307960|REF_RGD_ID:9491759 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9477 pulmonary embolism treatment ISO RGD:620137 D RGD:9068941 20200609 RGD PMID:23578461|REF_RGD_ID:9491777 8783087 Cx3cr1 C-X3-C motif chemokine receptor 1 gene DOID:9970 obesity ISO RGD:1352124 D RGD:9068941 20200609 RGD DNA:SNP: :p.T280M (human) PMID:20523302|REF_RGD_ID:4891903 8783102 Pax3 paired box 3 gene DOID:0050439 Usher syndrome ISO RGD:1351352 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24033266|PMID:25741868|PMID:28492532 8783102 Pax3 paired box 3 gene DOID:0080016 spina bifida ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12854658|PMID:17149730|PMID:3902948|PMID:6385329 8783102 Pax3 paired box 3 gene DOID:0080074 neural tube defect ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12739027|PMID:12854658|PMID:3293260 8783102 Pax3 paired box 3 gene DOID:0080074 neural tube defect ISO RGD:1552573 D RGD:9068941 20220825 MouseDO OMIM:182940 | OMIM:301410 | OMIM:601634 8783102 Pax3 paired box 3 gene DOID:0080799 sinonasal undifferentiated carcinoma ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 8783102 Pax3 paired box 3 gene DOID:0090100 ocular albinism with sensorineural deafness ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness PMID:25741868 8783102 Pax3 paired box 3 gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:1351352 D RGD:7240710 20200812 OMIM 8783102 Pax3 paired box 3 gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:12414908|PMID:1303193|PMID:1308353|PMID:1347148|PMID:1347149|PMID:16199547|PMID:18325909|PMID:1887852|PMID:20127975|PMID:20199465|PMID:20301703|PMID:20478267|PMID:21965087|PMID:23512835|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24651602|PMID:25525159|PMID:25736269|PMID:25741868|PMID:25991456|PMID:26149688|PMID:26275939|PMID:26467025|PMID:27759048|PMID:28381738|PMID:28492532|PMID:28686331|PMID:29407415|PMID:30311386|PMID:30936914|PMID:30978479|PMID:32747562|PMID:34008892|PMID:34599368|PMID:7573125|PMID:7726174|PMID:7897628|PMID:8019556|PMID:8423616|PMID:8447316|PMID:8490648|PMID:8533800|PMID:858969|PMID:8589691|PMID:8799378|PMID:8845842|PMID:8863157|PMID:9017978|PMID:9067759|PMID:9232624|PMID:9279758|PMID:9302254|PMID:9584079|PMID:9654197|PMID:9856573 8783102 Pax3 paired box 3 gene DOID:0110949 Waardenburg syndrome type 3 ISO RGD:1351352 D RGD:7240710 20180130 OMIM 8783102 Pax3 paired box 3 gene DOID:0110949 Waardenburg syndrome type 3 ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 3 PMID:11683776|PMID:12949970|PMID:1536170|PMID:20127975|PMID:23512835|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26275939|PMID:27759048|PMID:28492532|PMID:29407415|PMID:30311386|PMID:30978479|PMID:32747562|PMID:34008892|PMID:34599368|PMID:7091186|PMID:7726174|PMID:8019556|PMID:8447316 8783102 Pax3 paired box 3 gene DOID:0111336 craniofacial-deafness-hand syndrome ISO RGD:1351352 D RGD:7240710 20180130 OMIM 8783102 Pax3 paired box 3 gene DOID:0111336 craniofacial-deafness-hand syndrome ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome PMID:23806086|PMID:24033266|PMID:24088041|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29407415|PMID:30311386|PMID:6859126|PMID:8589691|PMID:8664898|PMID:8863157|PMID:9584079|PMID:9856573 8783102 Pax3 paired box 3 gene DOID:1059 intellectual disability ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18325909|PMID:25741868|PMID:28381738|PMID:28492532|PMID:28686331|PMID:29407415 8783102 Pax3 paired box 3 gene DOID:1115 sarcoma ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 8783102 Pax3 paired box 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1351352 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:23806086|PMID:24033266|PMID:24088041|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29407415|PMID:8589691|PMID:8863157|PMID:9584079|PMID:9856573 8783102 Pax3 paired box 3 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1351352 D RGD:7240710 20180130 OMIM 8783102 Pax3 paired box 3 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1351352 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma PMID:20199465|PMID:20478267|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32747562|PMID:8589691|PMID:8799378|PMID:9654197 8783102 Pax3 paired box 3 gene DOID:4202 brain stem glioma ISO RGD:1552573 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain stem: PMID:25330836|REF_RGD_ID:13702891 8783102 Pax3 paired box 3 gene DOID:630 genetic disease ISO RGD:1351352 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:30311386 8783102 Pax3 paired box 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8783102 Pax3 paired box 3 gene DOID:9004538 Hearing Loss ISO RGD:1351352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 8783102 Pax3 paired box 3 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14556253 8783102 Pax3 paired box 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7556916 8783102 Pax3 paired box 3 gene DOID:9008681 Deafness ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14556253 8783102 Pax3 paired box 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14556253 8783102 Pax3 paired box 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:620431 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:15616818|REF_RGD_ID:1580942 8783102 Pax3 paired box 3 gene DOID:9258 Waardenburg syndrome ISO RGD:1351352 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome | ClinVar Annotator: match by term: White forelock (poliosis) syndrome with multiple congenital malformations PMID:12414908|PMID:1308353|PMID:1349198|PMID:20127975|PMID:20301703|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24651602|PMID:25736269|PMID:25741868|PMID:26467025|PMID:26512583|PMID:28492532|PMID:29407415|PMID:30311386|PMID:34142234|PMID:8447316|PMID:8533800|PMID:8589691|PMID:8863157|PMID:9017978|PMID:9302254|PMID:9584079|PMID:9654197|PMID:9856573 8783134 Jpt2 Jupiter microtubule associated homolog 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 8783134 Jpt2 Jupiter microtubule associated homolog 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8783134 Jpt2 Jupiter microtubule associated homolog 2 gene DOID:1826 epilepsy ISO RGD:1312960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8783134 Jpt2 Jupiter microtubule associated homolog 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8783134 Jpt2 Jupiter microtubule associated homolog 2 gene DOID:630 genetic disease ISO RGD:1312960 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783146 Eras ES cell expressed Ras gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8783146 Eras ES cell expressed Ras gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8783146 Eras ES cell expressed Ras gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8783146 Eras ES cell expressed Ras gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8783146 Eras ES cell expressed Ras gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8783146 Eras ES cell expressed Ras gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8783146 Eras ES cell expressed Ras gene DOID:12849 autistic disorder ISO RGD:1345319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8783146 Eras ES cell expressed Ras gene DOID:630 genetic disease ISO RGD:1345319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783160 Tmem212 transmembrane protein 212 gene DOID:1062 Fanconi syndrome ISO RGD:2300031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8783160 Tmem212 transmembrane protein 212 gene DOID:630 genetic disease ISO RGD:2300031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783171 Hpcal1 hippocalcin like 1 gene DOID:630 genetic disease ISO RGD:1348150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783171 Hpcal1 hippocalcin like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8783182 Washc5 WASH complex subunit 5 gene DOID:0060565 Ritscher-Schinzel syndrome ISO RGD:1605096 D RGD:9068941 20240229 CTD CTD Direct Evidence: marker/mechanism 8783182 Washc5 WASH complex subunit 5 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:1605096 D RGD:7240710 20181010 OMIM 8783182 Washc5 WASH complex subunit 5 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 PMID:24065355|PMID:24824269|PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532|PMID:31971710|PMID:7604842 8783182 Washc5 WASH complex subunit 5 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1605096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 8783182 Washc5 WASH complex subunit 5 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1605096 D RGD:7240710 20180130 OMIM 8783182 Washc5 WASH complex subunit 5 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1605096 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition PMID:10797436|PMID:16199547|PMID:17160902|PMID:17576681|PMID:20301727|PMID:20833645|PMID:23085491|PMID:23455931|PMID:23881105|PMID:24065355|PMID:24123792|PMID:24215330|PMID:24451228|PMID:24759409|PMID:24824269|PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532|PMID:28514442|PMID:30564185|PMID:30778698|PMID:30896870|PMID:31227335|PMID:31814071|PMID:31911435|PMID:32816195|PMID:33662919|PMID:34184482|PMID:9536098 8783182 Washc5 WASH complex subunit 5 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1605096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8783182 Washc5 WASH complex subunit 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:17160902|PMID:25741868|PMID:26467025|PMID:28492532 8783182 Washc5 WASH complex subunit 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605096 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17160902|PMID:20301727|PMID:20833645|PMID:23085491|PMID:24215330|PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532|PMID:28514442|PMID:30896870|PMID:31227335|PMID:31911435|PMID:32816195|PMID:34184482 8783182 Washc5 WASH complex subunit 5 gene DOID:607 paraplegia ISO RGD:1605096 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:24215330|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32816195 8783182 Washc5 WASH complex subunit 5 gene DOID:630 genetic disease ISO RGD:1605096 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17160902|PMID:20301727|PMID:20833645|PMID:23085491|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28514442|PMID:30564185|PMID:31814071|PMID:31911435|PMID:34184482 8783182 Washc5 WASH complex subunit 5 gene DOID:9005532 Muscle Weakness ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 8783182 Washc5 WASH complex subunit 5 gene DOID:9007428 Muscle Spasticity ISO RGD:1605096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spasticity PMID:17576681|PMID:28492532|PMID:9536098 8783221 Mab21l3 mab-21 like 3 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1602303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 8783221 Mab21l3 mab-21 like 3 gene DOID:630 genetic disease ISO RGD:1602303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:1790 malignant mesothelioma ISO RGD:734202 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:2018 hyperinsulinism ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced PMID:11309481|REF_RGD_ID:1642735 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:6000 congestive heart failure ISO RGD:734202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:630 genetic disease ISO RGD:734202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:9000217 Stomach Neoplasms ISO RGD:734202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:9000918 Disease Progression ISO RGD:734202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:9001437 Aplasia or Hypoplasia of Breasts and/or Nipples 2 ISO RGD:734202 D RGD:7240710 20180130 OMIM 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:9001437 Aplasia or Hypoplasia of Breasts and/or Nipples 2 ISO RGD:734202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breasts and/or nipples, aplasia or hypoplasia of, 2 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:734202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:9007692 Insulin Resistance ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05) PMID:9218523|REF_RGD_ID:1642733 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:9007692 Insulin Resistance ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased expression::mouse model overexpressing human transgene, fasting plasma insulin increased 2.5-fold, glucose disposal and uptake into muscle reduced PMID:11309481|REF_RGD_ID:1642735 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:9970 obesity ISO RGD:3453 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle:increased 42% in insulin-resistant obese (fa/fa) and 50% in diabetic (ZDF/Drt-fa/fa) Zucker rats (P<0.05) PMID:7666792|REF_RGD_ID:1642732 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:9970 obesity ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:skeletal muscle:activity increased to 140-170% of control in insulin-resistant obese (BMI>30) nondiabetic subjects (p<0.05); activity decreased to 39% in obese NIDDM subjects (p<0.05) PMID:9218523|REF_RGD_ID:1642733 8783238 Ptprf protein tyrosine phosphatase receptor type F gene DOID:9970 obesity ISO RGD:734202 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:subcutaneous adipose tissue:2.03-fold higher activity in obese than lean individuals (P < 0.001) PMID:7769120|REF_RGD_ID:1642727 8783294 Palmd palmdelphin gene DOID:630 genetic disease ISO RGD:1313763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783294 Palmd palmdelphin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8783313 Usp48 ubiquitin specific peptidase 48 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1351270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8783313 Usp48 ubiquitin specific peptidase 48 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1351270 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8783313 Usp48 ubiquitin specific peptidase 48 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1351270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8783313 Usp48 ubiquitin specific peptidase 48 gene DOID:10283 prostate cancer ISO RGD:1351270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8783313 Usp48 ubiquitin specific peptidase 48 gene DOID:630 genetic disease ISO RGD:1351270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783313 Usp48 ubiquitin specific peptidase 48 gene DOID:670 amphetamine abuse ISO RGD:1351270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8783313 Usp48 ubiquitin specific peptidase 48 gene DOID:9002609 Autosomal Dominant Nonsyndromic Deafness 85 ISO RGD:1351270 D RGD:7240710 20230215 OMIM 8783313 Usp48 ubiquitin specific peptidase 48 gene DOID:9002609 Autosomal Dominant Nonsyndromic Deafness 85 ISO RGD:1351270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 85 PMID:25741868|PMID:34059922 8783313 Usp48 ubiquitin specific peptidase 48 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1351270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8783313 Usp48 ubiquitin specific peptidase 48 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 8783345 Canx calnexin gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:737068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 8783345 Canx calnexin gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:737068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8783345 Canx calnexin gene DOID:14748 Sotos syndrome ISO RGD:737068 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8783345 Canx calnexin gene DOID:630 genetic disease ISO RGD:737068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783345 Canx calnexin gene DOID:9007102 Myocardial Ischemia ISO RGD:737068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8783345 Canx calnexin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8783345 Canx calnexin gene DOID:9970 obesity ISO RGD:737068 D RGD:9068941 20200609 RGD protein:increased expression:subcutaneous adipose tissue PMID:18567819|REF_RGD_ID:2314284 8783366 Slc25a23 solute carrier family 25 member 23 gene DOID:0080490 mucolipidosis type IV ISO RGD:1343183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8783366 Slc25a23 solute carrier family 25 member 23 gene DOID:630 genetic disease ISO RGD:1343183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783380 Dpp9 dipeptidyl peptidase 9 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1350502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 8783380 Dpp9 dipeptidyl peptidase 9 gene DOID:630 genetic disease ISO RGD:1350502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783380 Dpp9 dipeptidyl peptidase 9 gene DOID:9008764 Immunodeficiency 111 ISO RGD:1350502 D RGD:7240710 20230505 OMIM 8783380 Dpp9 dipeptidyl peptidase 9 gene DOID:9008764 Immunodeficiency 111 ISO RGD:1350502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hatipoglu immunodeficiency syndrome PMID:36112693 8783419 Tnip2 TNFAIP3 interacting protein 2 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1317070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8783419 Tnip2 TNFAIP3 interacting protein 2 gene DOID:1856 cherubism ISO RGD:1317070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8783419 Tnip2 TNFAIP3 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1317070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:0080046 Stickler syndrome ISO RGD:736518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:21897443|PMID:24130771|PMID:28492532|PMID:30311386 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736518 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11134255|PMID:12028435|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:736518 D RGD:7240710 20180130 OMIM 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:736518 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15086897|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17576681|PMID:18436078|PMID:19525337|PMID:20301386|PMID:20847057|PMID:21157337|PMID:21897443|PMID:22887978|PMID:23325022|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24262798|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25525159|PMID:2557550|PMID:25575550|PMID:25596306|PMID:25741868|PMID:26138234|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26633401|PMID:26795916|PMID:26809805|PMID:26920127|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27796712|PMID:27859054|PMID:27904025|PMID:27932480|PMID:28117080|PMID:28476686|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28600779|PMID:28632965|PMID:28658201|PMID:28704582|PMID:28780565|PMID:28844315|PMID:29089023|PMID:29098738|PMID:29127259|PMID:29204651|PMID:29271581|PMID:29644057|PMID:29801666|PMID:29854973|PMID:29924831|PMID:29946535|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30586318|PMID:30647093|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30828794|PMID:30881523|PMID:31027891|PMID:31256874|PMID:31306228|PMID:31328266|PMID:31387071|PMID:31477057|PMID:31625567|PMID:31807928|PMID:31865346|PMID:32359821|PMID:32647767|PMID:32723786|PMID:32860008|PMID:32939031|PMID:33040356|PMID:33179747|PMID:33229591|PMID:33369211|PMID:33391746|PMID:33532864|PMID:33772369|PMID:33774048|PMID:33838161|PMID:33854215|PMID:34013111|PMID:34113375|PMID:34120753|PMID:34215756|PMID:34400539|PMID:34426522|PMID:34906502|PMID:35177655|PMID:35369551|PMID:35880347|PMID:36013122|PMID:6138234|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635|PMID:9536098|PMID:9724608 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:736518 D RGD:7240710 20180130 OMIM 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:736518 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome 3B, autosomal recessive | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17396119|PMID:17576681|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21897443|PMID:22887978|PMID:23297803|PMID:23325022|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24262798|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25381091|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25525159|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26138234|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26594346|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27485810|PMID:27627812|PMID:27796712|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29098738|PMID:29100090|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29644057|PMID:29801666|PMID:29854973|PMID:29924831|PMID:29946535|PMID:30311386|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30586318|PMID:30647093|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:31027891|PMID:31256874|PMID:31306228|PMID:31328266|PMID:31387071|PMID:31477057|PMID:31807928|PMID:31865346|PMID:31925849|PMID:32359821|PMID:32647767|PMID:32860008|PMID:32939031|PMID:33040356|PMID:33229591|PMID:33369211|PMID:33391746|PMID:33532864|PMID:33772369|PMID:33774048|PMID:33838161|PMID:33851121|PMID:33854215|PMID:34013111|PMID:34120753|PMID:34215756|PMID:34400539|PMID:34426522|PMID:35177655|PMID:35369551|PMID:36013122|PMID:6138234|PMID:7633417|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635|PMID:9536098|PMID:9647515|PMID:9724608 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:0111365 benign familial hematuria ISO RGD:736518 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: Thin basement membrane nephropathy PMID:11134255|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:17576681|PMID:19525337|PMID:20847057|PMID:22887978|PMID:23325022|PMID:23927549|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24633401|PMID:25229338|PMID:25307543|PMID:2557550|PMID:25575550|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27485810|PMID:27627812|PMID:28492532|PMID:28570636|PMID:28780565|PMID:29098738|PMID:29644057|PMID:29854973|PMID:29946535|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30586318|PMID:30661074|PMID:30773290|PMID:31328266|PMID:32359821|PMID:32647767|PMID:32939031|PMID:33532864|PMID:34400539|PMID:36013122|PMID:9536098 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21862460|PMID:21897443|PMID:22887978|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24052634|PMID:24130771|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29854973|PMID:29924831|PMID:30245029|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:30883042|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:32860008|PMID:33369211|PMID:33532864|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome ISO RGD:736518 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:1400291|PMID:14582039|PMID:14871398|PMID:15880327|PMID:15954103|PMID:16199547|PMID:17216251|PMID:17576681|PMID:18385178|PMID:18436078|PMID:19525337|PMID:20847057|PMID:21157337|PMID:21862460|PMID:21897443|PMID:22887978|PMID:23325022|PMID:23927549|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:24633401|PMID:24854265|PMID:24944784|PMID:25229338|PMID:25307543|PMID:25407002|PMID:25450602|PMID:25514610|PMID:2557550|PMID:25575550|PMID:25596306|PMID:25741868|PMID:25888712|PMID:26277931|PMID:26346198|PMID:26467025|PMID:26795916|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27391953|PMID:27485810|PMID:27627812|PMID:27859054|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28542346|PMID:28570636|PMID:28632965|PMID:28658201|PMID:28780565|PMID:29098738|PMID:29127259|PMID:29204651|PMID:29270492|PMID:29271581|PMID:29644057|PMID:29742505|PMID:29801666|PMID:29854973|PMID:29924831|PMID:29946535|PMID:30076350|PMID:30245029|PMID:30295827|PMID:30311386|PMID:30406062|PMID:30476138|PMID:30487145|PMID:30586318|PMID:30661074|PMID:30773290|PMID:30819905|PMID:30881523|PMID:30883042|PMID:31027891|PMID:31256874|PMID:31328266|PMID:31477057|PMID:31865346|PMID:32359821|PMID:32647767|PMID:32723786|PMID:32860008|PMID:32939031|PMID:33040356|PMID:33179747|PMID:33229591|PMID:33369211|PMID:33532864|PMID:33772369|PMID:33774048|PMID:34013111|PMID:34400539|PMID:34426522|PMID:35177655|PMID:35386907|PMID:36013122|PMID:7780062|PMID:7987301|PMID:7987396|PMID:8956999|PMID:9195222|PMID:9269635|PMID:9536098 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:10983 Alport syndrome susceptibility ISO RGD:736518 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutations PMID:7987301|REF_RGD_ID:1600924 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:1184 nephrotic syndrome ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:28844315|PMID:30828794|PMID:34113375 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736518 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:14871398|PMID:17216251|PMID:18385178|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26346198|PMID:26467025|PMID:28492532|PMID:29924831|PMID:30245029 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:2921 glomerulonephritis ISO RGD:71085 D RGD:9068941 20200609 RGD PMID:11158397|REF_RGD_ID:1600928 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:557 kidney disease ISO RGD:736518 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:12028435|PMID:14582039|PMID:14871398|PMID:15880327|PMID:17216251|PMID:19525337|PMID:21862460|PMID:22887978|PMID:23325022|PMID:24033266|PMID:24033287|PMID:24052634|PMID:24130771|PMID:25229338|PMID:25514610|PMID:25741868|PMID:26467025|PMID:26934356|PMID:27627812|PMID:28492532|PMID:29098738|PMID:29854973|PMID:30476138|PMID:30661074|PMID:32647767|PMID:34400539 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:576 proteinuria ISO RGD:736518 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532|PMID:30586318 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:630 genetic disease ISO RGD:736518 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:24854265|PMID:25741868|PMID:26809805|PMID:27281700|PMID:27391953|PMID:28492532|PMID:32723786|PMID:33040356|PMID:8956999|PMID:9724608 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:783 end stage renal disease ISO RGD:736518 D RGD:9068941 20200609 RGD PMID:19357112|REF_RGD_ID:7242047 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:784 chronic kidney disease ISO RGD:736518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:14871398|PMID:17216251|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26346198|PMID:26467025|PMID:27391953|PMID:28492532|PMID:29924831|PMID:30245029|PMID:32723786 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:9000363 Hematuria ISO RGD:736518 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria PMID:16199547|PMID:24854265|PMID:25307543|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:30586318|PMID:8956999 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:9003097 Benign Familial Hematuria 2 ISO RGD:736518 D RGD:7240710 20230505 OMIM 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:9004538 Hearing Loss ISO RGD:736518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:11044206|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:17216251|PMID:21157337|PMID:21897443|PMID:23967202|PMID:24033266|PMID:24130771|PMID:25229338|PMID:25307543|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26809805|PMID:27932480|PMID:28492532|PMID:28658201|PMID:29204651|PMID:29271581|PMID:30311386|PMID:30819905|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:7987301|PMID:9269635 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:9004538 Hearing Loss ISO RGD:736518 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:11044206|PMID:11134255|PMID:11961012|PMID:12028435|PMID:14582039|PMID:14871398|PMID:17216251|PMID:21157337|PMID:21897443|PMID:23967202|PMID:24033266|PMID:24130771|PMID:25229338|PMID:25307543|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26809805|PMID:27932480|PMID:28117080|PMID:28492532|PMID:28658201|PMID:29204651|PMID:29271581|PMID:30311386|PMID:30819905|PMID:31027891|PMID:31256874|PMID:31477057|PMID:31865346|PMID:7987301|PMID:9269635 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:9006352 Benign Familial Hematuria 1 ISO RGD:736518 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HEMATURIA, BENIGN FAMILIAL, 1 PMID:11134255|PMID:20847057|PMID:22887978|PMID:23927549|PMID:24052634|PMID:24633401|PMID:25229338|PMID:25741868|PMID:26467025|PMID:26809805|PMID:27485810|PMID:28492532|PMID:28570636|PMID:29644057|PMID:29946535|PMID:30406062|PMID:30487145|PMID:30586318|PMID:30773290|PMID:32359821|PMID:32939031|PMID:33532864|PMID:36013122 8783455 Col4a3 collagen type IV alpha 3 chain gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:736518 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:25105010|REF_RGD_ID:151660336 8783512 Tbcb tubulin folding cofactor B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1320593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8783512 Tbcb tubulin folding cofactor B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1320593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8783512 Tbcb tubulin folding cofactor B gene DOID:630 genetic disease ISO RGD:1320593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783512 Tbcb tubulin folding cofactor B gene DOID:9000965 Neoplasm Metastasis ISO RGD:1320593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 8783522 Baz1a bromodomain adjacent to zinc finger domain 1A gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1314679 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 8783522 Baz1a bromodomain adjacent to zinc finger domain 1A gene DOID:0111766 X-linked VACTERL association ISO RGD:1314679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations 8783522 Baz1a bromodomain adjacent to zinc finger domain 1A gene DOID:630 genetic disease ISO RGD:1314679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783522 Baz1a bromodomain adjacent to zinc finger domain 1A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314679 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8783574 Derl2 derlin 2 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1344289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8783574 Derl2 derlin 2 gene DOID:630 genetic disease ISO RGD:1344289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783584 Cndp2 carnosine dipeptidase 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1314094 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8783584 Cndp2 carnosine dipeptidase 2 gene DOID:1059 intellectual disability ISO RGD:1314094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8783584 Cndp2 carnosine dipeptidase 2 gene DOID:630 genetic disease ISO RGD:1314094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783584 Cndp2 carnosine dipeptidase 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1314094 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8783584 Cndp2 carnosine dipeptidase 2 gene DOID:8445 intestinal volvulus ISO RGD:1314094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8783584 Cndp2 carnosine dipeptidase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1314094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21573905 8783584 Cndp2 carnosine dipeptidase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8783584 Cndp2 carnosine dipeptidase 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1314094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8783584 Cndp2 carnosine dipeptidase 2 gene DOID:9452 steatotic liver disease ISO RGD:1314094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8783600 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1317694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8783600 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:0081395 Harel-Yoon syndrome ISO RGD:1317694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Harel-Yoon syndrome 8783600 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:1826 epilepsy ISO RGD:1317694 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:33944996 8783600 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:630 genetic disease ISO RGD:1317694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783600 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1317694 D RGD:9068941 20210416 RGD mRNA:decreased expression:liver PMID:26517514|REF_RGD_ID:11537550 8783600 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:769 neuroblastoma ISO RGD:1317694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 8783600 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9002801 Recurrence ISO RGD:1317694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 8783600 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9003182 Parenti-Mignot Neurodevelopmental Syndrome ISO RGD:1317694 D RGD:7240710 20221116 OMIM 8783600 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9003182 Parenti-Mignot Neurodevelopmental Syndrome ISO RGD:1317694 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Parenti-mignot neurodevelopmental syndrome PMID:25741868|PMID:33944996 8783600 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317694 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33944996 8783600 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1317694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33944996 8783600 Chd5 chromodomain helicase DNA binding protein 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 8783653 Acsm1 acyl-CoA synthetase medium chain family member 1 gene DOID:630 genetic disease ISO RGD:1315639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783653 Acsm1 acyl-CoA synthetase medium chain family member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1315639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 8783671 Apoo apolipoprotein O gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8783671 Apoo apolipoprotein O gene DOID:12849 autistic disorder ISO RGD:1603962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8783671 Apoo apolipoprotein O gene DOID:3650 lactic acidosis ISO RGD:1603962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic acidosis 8783671 Apoo apolipoprotein O gene DOID:630 genetic disease ISO RGD:1603962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783671 Apoo apolipoprotein O gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8783693 Cers4 ceramide synthase 4 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 8783693 Cers4 ceramide synthase 4 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1319578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8783693 Cers4 ceramide synthase 4 gene DOID:12849 autistic disorder ISO RGD:1319578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8783693 Cers4 ceramide synthase 4 gene DOID:630 genetic disease ISO RGD:1319578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783708 Tbc1d19 TBC1 domain family member 19 gene DOID:630 genetic disease ISO RGD:1343247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783733 Asb5 ankyrin repeat and SOCS box containing 5 gene DOID:630 genetic disease ISO RGD:1352084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783733 Asb5 ankyrin repeat and SOCS box containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8783750 Gkn2 gastrokine 2 gene DOID:630 genetic disease ISO RGD:1606131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783759 Ttr transthyretin gene DOID:0050451 Brugada syndrome ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 8783759 Ttr transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:7240710 20180130 OMIM 8783759 Ttr transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis PMID:10036587|PMID:10071047|PMID:10211412|PMID:10436378|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10677864|PMID:10694917|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842718|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11445644|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12101461|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557756|PMID:12557757|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12757474|PMID:12762139|PMID:12771253|PMID:12779320|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1350083|PMID:1351039|PMID:1353008|PMID:1353861|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:1362222|PMID:13894830|PMID:1436517|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14695346|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:15185501|PMID:1520326|PMID:1520336|PMID:15205369|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:15377697|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16053476|PMID:16076613|PMID:1618497|PMID:16194874|PMID:16194875|PMID:16199547|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16439680|PMID:1644201|PMID:16448460|PMID:16530227|PMID:1656975|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:16971399|PMID:17028027|PMID:17062380|PMID:17143887|PMID:17251346|PMID:1729888|PMID:1729893|PMID:17338921|PMID:1734866|PMID:17431395|PMID:17431450|PMID:17443043|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17522146|PMID:17551924|PMID:17554795|PMID:17558848|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:17968690|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18074076|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:1850191|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19365058|PMID:19372189|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19618439|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:19950966|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21135536|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21749890|PMID:21838472|PMID:21843040|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22187309|PMID:22209138|PMID:22320251|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22973891|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:23438977|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23885891|PMID:23905621|PMID:23993291|PMID:24030042|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013 8783759 Ttr transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24368466|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24613567|PMID:24633258|PMID:24650283|PMID:24664531|PMID:24747948|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766|PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25471118|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864|PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26123280|PMID:2613237|PMID:26156087|PMID:26208957|PMID:26209459|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26342004|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26828956|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27364045|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27646980|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28102864|PMID:28188196|PMID:28272196|PMID:28335735|PMID:28338000|PMID:28393577|PMID:2840822|PMID:28434346|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:28508289|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28646538|PMID:28716239|PMID:28728692|PMID:28762097|PMID:2877582|PMID:28790153|PMID:28798025|PMID:28802308|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29048471|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:29941560|PMID:29970125|PMID:29984770|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30169969|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30604309|PMID:30638075|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:3097057|PMID:30981840|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31257920|PMID:31343285|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31353960|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31517333|PMID:31554435|PMID:31583185|PMID:31587306|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31713445|PMID:31718691|PMID:31728576|PMID:31740141|PMID:3178532|PMID:31821430|PMID:31826067|PMID:31864976|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32393063|PMID:32395865|PMID:32399692|PMID:32461654|PMID:32528171|PMID:32674397|PMID:32696671|PMID:32740500|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33094885|PMID:33114611|PMID:33283548|PMID:33309574|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33411323|PMID:33467513|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34047656|PMID:34079032|PMID:34317109|PMID:34380564|PMID:34391735|PMID:34440326|PMID:34495297|PMID:3457802|PMID:34585077|PMID:34658264 8783759 Ttr transthyretin gene DOID:0050638 transthyretin amyloidosis ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar Annotator: match by term: Transthyretin amyloidosis PMID:34729535|PMID:34740514|PMID:34746851|PMID:3479441|PMID:35115086|PMID:35377943|PMID:35417510|PMID:35451899|PMID:35592550|PMID:35637921|PMID:35653365|PMID:35665045|PMID:35717381|PMID:35730447|PMID:35841533|PMID:35903975|PMID:35933469|PMID:36003663|PMID:3627183|PMID:36289657|PMID:3676699|PMID:36994840|PMID:3722385|PMID:3760189|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6099706|PMID:6100724|PMID:6168726|PMID:6208668|PMID:6300852|PMID:6310716|PMID:6311926|PMID:6487335|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7417777|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7850982|PMID:7868124|PMID:7906282|PMID:7910950|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095301|PMID:8095302|PMID:8100581|PMID:8102146|PMID:8133316|PMID:8194279|PMID:8218290|PMID:8257997|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8579098|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8960746|PMID:8990019|PMID:9017939|PMID:9017946|PMID:9066351|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9605286|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084 8783759 Ttr transthyretin gene DOID:0050700 cardiomyopathy ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15217993|PMID:15249622|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16432141|PMID:16439621|PMID:16439680|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17577687|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21749890|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23885891|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25044787|PMID:25211232|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25628512|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27885756|PMID:28102864|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28728692|PMID:2896079|PMID:29048471|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30572722|PMID:30638075|PMID:30683924|PMID:30813263|PMID:30938420|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31864976|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32461654|PMID:32528171|PMID:32674397|PMID:32696671|PMID:32789836|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33467513|PMID:33726816|PMID:33739616|PMID:34024775|PMID:34079032|PMID:3457802|PMID:34729535|PMID:3479441|PMID:35115086|PMID:35377943|PMID:35730447|PMID:35841533|PMID:35903975|PMID:36003663|PMID:3627183|PMID:36289657|PMID:3676699 8783759 Ttr transthyretin gene DOID:0050700 cardiomyopathy ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:36994840|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8275943|PMID:8345041|PMID:8428916|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748569|PMID:9818054|PMID:9818883 8783759 Ttr transthyretin gene DOID:0050860 colorectal adenoma ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:21136704|REF_RGD_ID:151664608 8783759 Ttr transthyretin gene DOID:0050860 colorectal adenoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:decreased expression:colorectum (human) PMID:33739034|REF_RGD_ID:151660505 8783759 Ttr transthyretin gene DOID:0050866 oral squamous cell carcinoma ISO RGD:737331 D RGD:9068941 20220310 RGD protein:increased expression:saliva (human) PMID:23784731|REF_RGD_ID:151664609 8783759 Ttr transthyretin gene DOID:0070466 carpal tunnel syndrome 1 ISO RGD:737331 D RGD:7240710 20210120 OMIM 8783759 Ttr transthyretin gene DOID:0070466 carpal tunnel syndrome 1 ISO RGD:737331 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome 1 PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10842715|PMID:10923048|PMID:11385707|PMID:11523162|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12566023|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1335038|PMID:1351039|PMID:1353008|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14640031|PMID:14673473|PMID:1490495|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15249622|PMID:15299640|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17338921|PMID:17443043|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17698792|PMID:1786038|PMID:18022643|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18460047|PMID:18506713|PMID:18606975|PMID:1867256|PMID:18830126|PMID:18863976|PMID:18925456|PMID:192115|PMID:19364362|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21520333|PMID:21540676|PMID:21600538|PMID:21692911|PMID:21749890|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22382560|PMID:22412233|PMID:22531659|PMID:22551192|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24800914|PMID:24818650|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25636337|PMID:2564060|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:27025994|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27273296|PMID:27386769|PMID:27532257|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:28102864|PMID:2840822|PMID:28434346|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28762097|PMID:2877582|PMID:28882124|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29407121|PMID:29423915|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29875424|PMID:29970125|PMID:30019395|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30938420|PMID:31006018|PMID:31018485|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32461654|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32852783|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33373035|PMID:33411102|PMID:33467513|PMID:33726816|PMID:33739616|PMID:34047656|PMID:34079032|PMID:34440326|PMID:3457802|PMID:34658264|PMID:34729535|PMID:34746851|PMID:3479441|PMID:35115086|PMID:35377943|PMID:35417510|PMID:35592550|PMID:35637921|PMID:35665045|PMID:35730447 8783759 Ttr transthyretin gene DOID:0070466 carpal tunnel syndrome 1 ISO RGD:737331 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome 1 PMID:35841533|PMID:35903975|PMID:3627183|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7839813|PMID:7868124|PMID:7914929|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8100581|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8428916|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9475090|PMID:9748014|PMID:9771673 8783759 Ttr transthyretin gene DOID:0080219 dystransthyretinemic hyperthyroxinemia ISO RGD:737331 D RGD:7240710 20180130 OMIM 8783759 Ttr transthyretin gene DOID:0080219 dystransthyretinemic hyperthyroxinemia ISO RGD:737331 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10842715|PMID:10923048|PMID:11385707|PMID:11523162|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11866053|PMID:11940682|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12566023|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1335038|PMID:1351039|PMID:1353008|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14640031|PMID:14673473|PMID:1490495|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15249622|PMID:15299640|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17338921|PMID:17443043|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17698792|PMID:1786038|PMID:18022643|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18460047|PMID:18506713|PMID:18606975|PMID:1867256|PMID:18830126|PMID:18863976|PMID:18925456|PMID:192115|PMID:19364362|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21520333|PMID:21540676|PMID:21600538|PMID:21692911|PMID:21749890|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22382560|PMID:22412233|PMID:22531659|PMID:22551192|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23279339|PMID:23387326|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24800914|PMID:24818650|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25636337|PMID:2564060|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:27025994|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27532257|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:28102864|PMID:28188196|PMID:2840822|PMID:28434346|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28882124|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29407121|PMID:29423915|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29875424|PMID:29970125|PMID:30019395|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30572722|PMID:30683924|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:31006018|PMID:31018485|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32461654|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32852783|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33373035|PMID:33411102|PMID:33467513|PMID:33726816|PMID:33739616|PMID:34047656|PMID:34079032|PMID:34440326|PMID:3457802|PMID:34658264 8783759 Ttr transthyretin gene DOID:0080219 dystransthyretinemic hyperthyroxinemia ISO RGD:737331 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: EUTHRYROIDAL HYPERTHYROXINEMIA 2 | ClinVar Annotator: match by term: Hyperthyroxinemia, dystransthyretinemic PMID:34729535|PMID:34746851|PMID:3479441|PMID:35115086|PMID:35377943|PMID:35417510|PMID:35592550|PMID:35637921|PMID:35665045|PMID:35730447|PMID:35841533|PMID:35903975|PMID:3627183|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7839813|PMID:7868124|PMID:7914929|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8100581|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8345041|PMID:8428916|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9475090|PMID:9748014|PMID:9771673 8783759 Ttr transthyretin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:26537620|PMID:28492532|PMID:30683924|PMID:31554435 8783759 Ttr transthyretin gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:28492532 8783759 Ttr transthyretin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:1355416|PMID:14640030|PMID:15185492|PMID:1850190|PMID:19428025|PMID:1997217|PMID:2174830|PMID:22332999|PMID:24033266|PMID:24955979|PMID:25741868|PMID:2590199|PMID:26537620|PMID:28492532|PMID:30683924|PMID:31554435|PMID:6736244|PMID:7923855|PMID:8102146|PMID:9090525 8783759 Ttr transthyretin gene DOID:10534 stomach cancer severity ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:29804846|REF_RGD_ID:151664603 8783759 Ttr transthyretin gene DOID:1059 intellectual disability ISO RGD:737331 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8783759 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22620962|PMID:22745357|PMID:22877808|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25644864|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26017327|PMID:26088020|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26521788|PMID:26537620|PMID:26610878|PMID:26894299|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27249223|PMID:27364045|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:28166811|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29016222|PMID:29048471|PMID:29121657|PMID:29351628|PMID:29493581|PMID:2981253|PMID:3011930|PMID:3022107|PMID:3022108|PMID:3022697|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31728576|PMID:31740141|PMID:31821430|PMID:3229002|PMID:32376792|PMID:32674397|PMID:3457802|PMID:3479441|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 8783759 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10439123|PMID:10453736|PMID:10465115|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25644864|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26610878|PMID:26894299|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27364045|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:2891727|PMID:2896079|PMID:29016222|PMID:29048471|PMID:29121657|PMID:29351628|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991 8783759 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 8783759 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27885756|PMID:2840822|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30683924|PMID:30813263|PMID:30847666|PMID:30938420|PMID:30953182|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32528171|PMID:32674397|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33726816|PMID:33739616|PMID:3457802|PMID:3479441|PMID:35903975|PMID:3627183|PMID:3676699|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668 8783759 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16439680|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23885891|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25211232|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27885756|PMID:28102864|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28728692|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29048471|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30638075|PMID:30683924|PMID:30813263|PMID:30847666|PMID:30938420|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31864976|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32461654|PMID:32528171|PMID:32674397|PMID:32696671|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33467513|PMID:33726816|PMID:33739616|PMID:34079032|PMID:3457802|PMID:34729535 8783759 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:3479441|PMID:35115086|PMID:35377943|PMID:35730447|PMID:35903975|PMID:36003663|PMID:3627183|PMID:36289657|PMID:3676699|PMID:36994840|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 8783759 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10762172|PMID:10772944|PMID:10842715|PMID:11243784|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11940682|PMID:12000195|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12440486|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14673473|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15123043|PMID:15185492|PMID:1520326|PMID:15217993|PMID:15249622|PMID:1544214|PMID:1547960|PMID:15523922|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:1626556|PMID:16362527|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16439680|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17251346|PMID:1729893|PMID:17431395|PMID:17431450|PMID:17503405|PMID:17551924|PMID:17698792|PMID:17968687|PMID:18042262|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19364362|PMID:19428025|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20660862|PMID:20840742|PMID:20981092|PMID:2122246|PMID:21406045|PMID:21557933|PMID:21600538|PMID:2174830|PMID:21992998|PMID:22083004|PMID:22184092|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22449240|PMID:22531659|PMID:22592564|PMID:22620962|PMID:22745357|PMID:22877808|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23885891|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24368466|PMID:24455802|PMID:24474780|PMID:24503780|PMID:24517438|PMID:24555660|PMID:24601850|PMID:24633258|PMID:24800914|PMID:24818650|PMID:24955979|PMID:25211232|PMID:25311081|PMID:25395306|PMID:25430583|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:2564060|PMID:25741868|PMID:25743335|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26537620|PMID:26587769|PMID:26959691|PMID:27033334|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27249223|PMID:27386769|PMID:27532257|PMID:27562180|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27885756|PMID:28102864|PMID:2840822|PMID:28475415|PMID:28492532|PMID:28494620|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28728692|PMID:2877582|PMID:28798025|PMID:2891727|PMID:2896079|PMID:29048471|PMID:29121657|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29764897|PMID:2981253|PMID:29875424|PMID:30019395|PMID:30093168|PMID:3011930|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30328212|PMID:30350904|PMID:30572722|PMID:30638075|PMID:30683924|PMID:30813263|PMID:30847666|PMID:30938420|PMID:3097057|PMID:31135624|PMID:31139689|PMID:31343348|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31864976|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32461654|PMID:32528171|PMID:32674397|PMID:32696671|PMID:32852783|PMID:32880476|PMID:32893242|PMID:33373035|PMID:33467513|PMID:33726816|PMID:33739616|PMID:34079032|PMID:3457802|PMID:34658264 8783759 Ttr transthyretin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:34729535|PMID:3479441|PMID:35115086|PMID:35377943|PMID:35730447|PMID:35903975|PMID:36003663|PMID:3627183|PMID:36289657|PMID:3676699|PMID:36994840|PMID:3722385|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7923855|PMID:8064809|PMID:8071954|PMID:8100581|PMID:8102146|PMID:8194279|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9818054|PMID:9818883|PMID:9843084 8783759 Ttr transthyretin gene DOID:10652 Alzheimer's disease ISO RGD:737331 D RGD:9068941 20200609 RGD PMID:16552785|REF_RGD_ID:1580525 8783759 Ttr transthyretin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:14640030|PMID:20840742|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7868124 8783759 Ttr transthyretin gene DOID:12169 carpal tunnel syndrome ISO RGD:737331 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome | ClinVar Annotator: match by term: Carpal tunnel syndrome, familial PMID:10211412|PMID:10439123|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611950|PMID:10671063|PMID:10762172|PMID:10842715|PMID:10923048|PMID:11385707|PMID:11523162|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11866053|PMID:11940682|PMID:12039669|PMID:12050338|PMID:12217248|PMID:12433265|PMID:12566023|PMID:12617705|PMID:12874413|PMID:12874414|PMID:1335038|PMID:1351039|PMID:1353008|PMID:1358785|PMID:14569203|PMID:14640030|PMID:14640031|PMID:14673473|PMID:1490495|PMID:14986482|PMID:15123043|PMID:15185492|PMID:15249622|PMID:15299640|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15753613|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16194874|PMID:16194875|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17062380|PMID:17251346|PMID:17338921|PMID:17443043|PMID:17503405|PMID:17551924|PMID:17554795|PMID:17698792|PMID:1786038|PMID:18022643|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18460047|PMID:18506713|PMID:18606975|PMID:1867256|PMID:18830126|PMID:18863976|PMID:18925456|PMID:192115|PMID:19364362|PMID:19602727|PMID:19709674|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:1992765|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:2063870|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21520333|PMID:21540676|PMID:21600538|PMID:21692911|PMID:21749890|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22382560|PMID:22412233|PMID:22531659|PMID:22551192|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23279339|PMID:23387326|PMID:2349941|PMID:2363717|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24767411|PMID:24800914|PMID:24818650|PMID:25395306|PMID:25519307|PMID:25525159|PMID:25550818|PMID:25551524|PMID:25636337|PMID:2564060|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:26208957|PMID:2624269|PMID:26243339|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:27025994|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27273296|PMID:27350016|PMID:27386769|PMID:27532257|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27793437|PMID:27838833|PMID:28102864|PMID:28188196|PMID:2840822|PMID:28434346|PMID:28475415|PMID:28492532|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28762097|PMID:2877582|PMID:28882124|PMID:2891727|PMID:2896079|PMID:29121657|PMID:29407121|PMID:29423915|PMID:29493581|PMID:29520877|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29875424|PMID:29883834|PMID:29970125|PMID:30019395|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30572722|PMID:30683924|PMID:30811423|PMID:30813263|PMID:30938420|PMID:31006018|PMID:31018485|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31554435|PMID:31589614|PMID:31659433|PMID:31718691|PMID:31728576|PMID:31740141|PMID:31821430|PMID:31919945|PMID:31980526|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32399692|PMID:32461654|PMID:32528171|PMID:32674397|PMID:32746448|PMID:32852783|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33094885|PMID:33373035|PMID:33411102|PMID:33467513|PMID:33726816|PMID:33739616|PMID:34047656|PMID:34079032|PMID:34440326|PMID:3457802|PMID:34658264 8783759 Ttr transthyretin gene DOID:12169 carpal tunnel syndrome ISO RGD:737331 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carpal tunnel syndrome | ClinVar Annotator: match by term: Carpal tunnel syndrome, familial PMID:34729535|PMID:34746851|PMID:3479441|PMID:35115086|PMID:35377943|PMID:35417510|PMID:35592550|PMID:35637921|PMID:35665045|PMID:35730447|PMID:35841533|PMID:35903975|PMID:3627183|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130|PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7389759|PMID:7608709|PMID:7655883|PMID:7839813|PMID:7868124|PMID:7914929|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8100581|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8345041|PMID:8428916|PMID:8509786|PMID:8563114|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:9017939|PMID:9090525|PMID:9215058|PMID:9268242|PMID:9475090|PMID:9748014|PMID:9771673 8783759 Ttr transthyretin gene DOID:12450 pancytopenia ISO RGD:737331 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32461654|PMID:32674397|PMID:33467513|PMID:34079032|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35903975|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 8783759 Ttr transthyretin gene DOID:1324 lung cancer disease_progression ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:20964562|REF_RGD_ID:151664750 8783759 Ttr transthyretin gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:17683510|REF_RGD_ID:151664742 8783759 Ttr transthyretin gene DOID:2316 brain ischemia ISO RGD:3916 D RGD:9068941 20200609 RGD PMID:15469881|REF_RGD_ID:1580523 8783759 Ttr transthyretin gene DOID:2355 anemia ISO RGD:737331 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Anemia PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32461654|PMID:32674397|PMID:33467513|PMID:34079032|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35903975|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 8783759 Ttr transthyretin gene DOID:3021 acute kidney failure ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8783759 Ttr transthyretin gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:31031974|REF_RGD_ID:151664739 8783759 Ttr transthyretin gene DOID:3910 lung adenocarcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD mRNA,protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 8783759 Ttr transthyretin gene DOID:4556 lung large cell carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 8783759 Ttr transthyretin gene DOID:4829 adenosquamous lung carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 8783759 Ttr transthyretin gene DOID:4947 cholangiocarcinoma ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:18275060|REF_RGD_ID:151660506 8783759 Ttr transthyretin gene DOID:4961 bone marrow disease ISO RGD:737331 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:10211412|PMID:10762172|PMID:10842715|PMID:11385707|PMID:11752419|PMID:11752443|PMID:12050338|PMID:12217248|PMID:12874413|PMID:12874414|PMID:1351039|PMID:1358785|PMID:14569203|PMID:14640030|PMID:15123043|PMID:15820680|PMID:16011990|PMID:16432141|PMID:16439621|PMID:16631014|PMID:16631015|PMID:17251346|PMID:17503405|PMID:17551924|PMID:18042262|PMID:18276611|PMID:18318779|PMID:18830126|PMID:19781421|PMID:1997217|PMID:2002274|PMID:20301373|PMID:20435197|PMID:2063870|PMID:20981092|PMID:21600538|PMID:22083004|PMID:22184092|PMID:2237288|PMID:22745357|PMID:22877808|PMID:22995991|PMID:2320592|PMID:2349941|PMID:23713495|PMID:23716704|PMID:24033266|PMID:24073013|PMID:24101130|PMID:24131106|PMID:24184229|PMID:24474780|PMID:24517438|PMID:24633258|PMID:24818650|PMID:25395306|PMID:25551524|PMID:25741868|PMID:25819286|PMID:25846356|PMID:2590199|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26123279|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26537620|PMID:27188913|PMID:27386769|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27758856|PMID:27838833|PMID:28102864|PMID:28475415|PMID:28492532|PMID:28635949|PMID:29493581|PMID:29520877|PMID:29764897|PMID:30093168|PMID:3030336|PMID:30813263|PMID:30938420|PMID:31135624|PMID:31359320|PMID:31371117|PMID:31554435|PMID:31659433|PMID:31740141|PMID:31821430|PMID:31980526|PMID:32150461|PMID:3229002|PMID:32461654|PMID:32674397|PMID:33467513|PMID:34079032|PMID:34729535|PMID:35115086|PMID:35377943|PMID:35903975|PMID:3627183|PMID:3934968|PMID:7868124|PMID:8698351|PMID:9017939 8783759 Ttr transthyretin gene DOID:5409 lung small cell carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:increased expression:lung (human) PMID:26943652|REF_RGD_ID:151665207 8783759 Ttr transthyretin gene DOID:6000 congestive heart failure ISO RGD:737331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:1355416|PMID:14640030|PMID:15185492|PMID:1850190|PMID:19428025|PMID:1997217|PMID:2174830|PMID:22332999|PMID:24033266|PMID:24955979|PMID:25741868|PMID:2590199|PMID:28492532|PMID:6736244|PMID:7923855|PMID:8102146|PMID:9090525 8783759 Ttr transthyretin gene DOID:630 genetic disease ISO RGD:737331 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23914756 8783759 Ttr transthyretin gene DOID:684 hepatocellular carcinoma ISO RGD:3916 D RGD:9068941 20220721 RGD protein:increased expression:blood serum (rat) PMID:28876464|REF_RGD_ID:151664602 8783759 Ttr transthyretin gene DOID:684 hepatocellular carcinoma ISO RGD:737331 D RGD:9068941 20220317 RGD protein:decreased expression:blood serum (human) PMID:16240287|REF_RGD_ID:151665161 8783759 Ttr transthyretin gene DOID:684 hepatocellular carcinoma ISO RGD:737331 D RGD:9068941 20220721 RGD protein:increased expression:blood serum (human) PMID:28876464|REF_RGD_ID:151664602 8783759 Ttr transthyretin gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737331 D RGD:9068941 20220210 RGD protein:decreased expression:blood serum (human) PMID:29534342|REF_RGD_ID:151356736 8783759 Ttr transthyretin gene DOID:9000081 Lymphatic Metastasis ISO RGD:737331 D RGD:9068941 20220317 RGD associated with colorectal cancer;protein:decreased expresion:blood serum (human) PMID:21074777|REF_RGD_ID:151665155 8783759 Ttr transthyretin gene DOID:9000299 cardiac amyloidosis ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:10036587|PMID:10071047|PMID:10211412|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10677864|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842718|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12101461|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12762139|PMID:12771253|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1350083|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:1362222|PMID:13894830|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14695346|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:15185501|PMID:1520326|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16053476|PMID:16076613|PMID:1618497|PMID:16194874|PMID:16194875|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16439680|PMID:16448460|PMID:16530227|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17062380|PMID:17143887|PMID:17251346|PMID:1729888|PMID:1729893|PMID:17338921|PMID:17431395|PMID:17431450|PMID:17443043|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17522146|PMID:17551924|PMID:17554795|PMID:17558848|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19372189|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19618439|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:19950966|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21135536|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21749890|PMID:21843040|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22209138|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23885891|PMID:23905621|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24650283|PMID:24664531|PMID:24747948|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766 8783759 Ttr transthyretin gene DOID:9000299 cardiac amyloidosis ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25471118|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864|PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2613237|PMID:26156087|PMID:26208957|PMID:26209459|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27364045|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28102864|PMID:28188196|PMID:28335735|PMID:28338000|PMID:28393577|PMID:2840822|PMID:28434346|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:28508289|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28646538|PMID:28716239|PMID:28728692|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29048471|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:29970125|PMID:29984770|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30169969|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30604309|PMID:30638075|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:3097057|PMID:30981840|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31257920|PMID:31343285|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31353960|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31517333|PMID:31554435|PMID:31583185|PMID:31587306|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31713445|PMID:31718691|PMID:31728576|PMID:31740141|PMID:3178532|PMID:31821430|PMID:31826067|PMID:31864976|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32395865|PMID:32399692|PMID:32461654|PMID:32528171|PMID:32674397|PMID:32696671|PMID:32740500|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33094885|PMID:33114611|PMID:33283548|PMID:33309574|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33411323|PMID:33467513|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34047656|PMID:34079032|PMID:34317109|PMID:34380564|PMID:34391735|PMID:34440326|PMID:34495297|PMID:3457802|PMID:34585077|PMID:34658264|PMID:34729535|PMID:34740514|PMID:34746851|PMID:3479441|PMID:35115086|PMID:35377943|PMID:35417510|PMID:35451899|PMID:35592550|PMID:35637921|PMID:35653365|PMID:35665045|PMID:35717381|PMID:35730447|PMID:35841533|PMID:35903975|PMID:35933469|PMID:36003663|PMID:3627183|PMID:36289657|PMID:3676699|PMID:36994840|PMID:3722385|PMID:3760189|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130 8783759 Ttr transthyretin gene DOID:9000299 cardiac amyloidosis ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095302|PMID:8100581|PMID:8102146|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8579098|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8990019|PMID:9017939|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084 8783759 Ttr transthyretin gene DOID:9000965 Neoplasm Metastasis ISO RGD:737331 D RGD:9068941 20220317 RGD associated with oral squamous cell carcinoma;protein:decreased expression:blood serum, saliva (human) PMID:20957082|REF_RGD_ID:151665158 8783759 Ttr transthyretin gene DOID:9000965 Neoplasm Metastasis ISO RGD:737331 D RGD:9068941 20220317 RGD associated with colorectal adenocarcinoma;protein:decreased expression:colorectum (human) PMID:33739034|REF_RGD_ID:151660505 8783759 Ttr transthyretin gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737331 D RGD:9068941 20220317 RGD associated with colorectal cancer PMID:28730771|REF_RGD_ID:151665163 8783759 Ttr transthyretin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:10036587|PMID:10071047|PMID:10211412|PMID:10439117|PMID:10439123|PMID:10449136|PMID:10453736|PMID:10465115|PMID:10488818|PMID:10506096|PMID:10529370|PMID:10611949|PMID:10611950|PMID:10671063|PMID:10677864|PMID:10762172|PMID:10772944|PMID:10794728|PMID:10842705|PMID:10842715|PMID:10842718|PMID:10842720|PMID:10845569|PMID:10923048|PMID:10924339|PMID:11243784|PMID:11261421|PMID:11385707|PMID:11523162|PMID:11577236|PMID:11709003|PMID:11752419|PMID:11752443|PMID:11812437|PMID:11866053|PMID:11940682|PMID:12000195|PMID:12000196|PMID:12039669|PMID:12050338|PMID:12101461|PMID:12217248|PMID:12351683|PMID:12433265|PMID:12440483|PMID:12440486|PMID:12557758|PMID:12566023|PMID:12588803|PMID:12617705|PMID:12762139|PMID:12771253|PMID:12874413|PMID:12874414|PMID:12874858|PMID:1301926|PMID:1330202|PMID:1335038|PMID:13367520|PMID:1350083|PMID:1351039|PMID:1353008|PMID:1355416|PMID:1356051|PMID:1358785|PMID:13593935|PMID:1362222|PMID:13894830|PMID:14404854|PMID:14569203|PMID:14627687|PMID:14640030|PMID:14640031|PMID:14673473|PMID:14695346|PMID:14724437|PMID:1490495|PMID:14968122|PMID:14986482|PMID:15110620|PMID:15123043|PMID:15185492|PMID:15185501|PMID:1520326|PMID:15214015|PMID:15217993|PMID:15249622|PMID:15299640|PMID:1544214|PMID:15478468|PMID:1547960|PMID:15523922|PMID:15645642|PMID:1570831|PMID:15735344|PMID:15753613|PMID:15793844|PMID:15820680|PMID:15930086|PMID:16011990|PMID:16053476|PMID:16076613|PMID:1618497|PMID:16194874|PMID:16194875|PMID:1626556|PMID:1626570|PMID:16357452|PMID:16362527|PMID:16387053|PMID:16399646|PMID:16432141|PMID:16439621|PMID:16439680|PMID:16448460|PMID:16530227|PMID:16631014|PMID:16631015|PMID:1664269|PMID:16911959|PMID:17062380|PMID:17143887|PMID:17251346|PMID:1729888|PMID:1729893|PMID:17338921|PMID:17431395|PMID:17431450|PMID:17443043|PMID:17453626|PMID:17484624|PMID:17503405|PMID:17522146|PMID:17551924|PMID:17554795|PMID:17558848|PMID:17576681|PMID:17577687|PMID:17577688|PMID:17698792|PMID:1786038|PMID:17968687|PMID:18022643|PMID:18042262|PMID:18069997|PMID:18276611|PMID:18295603|PMID:18318779|PMID:18460047|PMID:1850190|PMID:18506713|PMID:18606975|PMID:1867256|PMID:1877623|PMID:18830126|PMID:18863976|PMID:18925456|PMID:18984591|PMID:19118530|PMID:192115|PMID:19291509|PMID:1932142|PMID:19364362|PMID:19372189|PMID:19428025|PMID:19467548|PMID:19491989|PMID:19602727|PMID:19618439|PMID:19644733|PMID:19709674|PMID:19752327|PMID:1977686|PMID:19781421|PMID:1979335|PMID:19808383|PMID:1981182|PMID:19922332|PMID:1992765|PMID:19950966|PMID:1997217|PMID:2002274|PMID:20209591|PMID:20301373|PMID:20435197|PMID:2046936|PMID:20536403|PMID:20558946|PMID:2063870|PMID:20660862|PMID:20686303|PMID:20697105|PMID:20714957|PMID:20840742|PMID:20937937|PMID:20981092|PMID:21135536|PMID:2122246|PMID:21406045|PMID:21490715|PMID:21520333|PMID:21540676|PMID:21550574|PMID:21557933|PMID:21600538|PMID:2161654|PMID:21692911|PMID:2174830|PMID:21749890|PMID:21843040|PMID:21992998|PMID:22083004|PMID:22106346|PMID:22149423|PMID:22184092|PMID:22209138|PMID:22332999|PMID:2237288|PMID:22382560|PMID:22400056|PMID:22412233|PMID:22449240|PMID:22494066|PMID:22531659|PMID:22551192|PMID:22580845|PMID:22592564|PMID:22620962|PMID:22620967|PMID:22745357|PMID:22747647|PMID:22877808|PMID:22928869|PMID:22995991|PMID:23080516|PMID:23126592|PMID:23193944|PMID:2320592|PMID:23240369|PMID:23278526|PMID:23279339|PMID:23317988|PMID:23346293|PMID:23387326|PMID:2349941|PMID:23523753|PMID:23580146|PMID:2360796|PMID:2363717|PMID:23638696|PMID:23713495|PMID:23716704|PMID:23833285|PMID:23885891|PMID:23905621|PMID:23993291|PMID:24033266|PMID:24046394|PMID:24053266|PMID:24061768|PMID:24073013|PMID:24101130|PMID:24101373|PMID:24111657|PMID:24131106|PMID:24164154|PMID:24184229|PMID:24356794|PMID:24358189|PMID:24412190|PMID:24455802|PMID:24474780|PMID:24480837|PMID:24517438|PMID:24555660|PMID:24563469|PMID:24601850|PMID:24633258|PMID:24650283|PMID:24664531|PMID:24747948|PMID:24767411|PMID:24779883|PMID:24800914|PMID:24818650|PMID:24953234|PMID:24955979|PMID:25037766 8783759 Ttr transthyretin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:25044787|PMID:2510740|PMID:25130926|PMID:25211232|PMID:25291558|PMID:25311081|PMID:25395306|PMID:25408161|PMID:25412400|PMID:25430583|PMID:25471118|PMID:25488473|PMID:25519307|PMID:25525159|PMID:25526974|PMID:25550818|PMID:25551524|PMID:25628512|PMID:25636337|PMID:2564060|PMID:25644864|PMID:25721874|PMID:25741868|PMID:25743335|PMID:25743445|PMID:25819286|PMID:25828388|PMID:25846356|PMID:25857202|PMID:2590199|PMID:25973863|PMID:25997029|PMID:26002815|PMID:26017327|PMID:26088020|PMID:26096568|PMID:26104852|PMID:26115039|PMID:26115788|PMID:26123279|PMID:2613237|PMID:26156087|PMID:26208957|PMID:26209459|PMID:2624269|PMID:26243339|PMID:26286619|PMID:26361241|PMID:26369527|PMID:26428663|PMID:2646319|PMID:26467025|PMID:26513367|PMID:26521788|PMID:26529114|PMID:26537620|PMID:26587769|PMID:26656838|PMID:26894299|PMID:26959691|PMID:26984605|PMID:26986100|PMID:27025994|PMID:27033334|PMID:27066555|PMID:2714785|PMID:27188913|PMID:27212199|PMID:27238058|PMID:27249223|PMID:27273296|PMID:27350016|PMID:27364045|PMID:27386769|PMID:27466465|PMID:27501389|PMID:27519456|PMID:27532257|PMID:27562180|PMID:27584576|PMID:27589730|PMID:27618855|PMID:27652282|PMID:27720586|PMID:27724962|PMID:27758856|PMID:27793437|PMID:27838833|PMID:27858761|PMID:27859927|PMID:27885756|PMID:28102864|PMID:28188196|PMID:28335735|PMID:28338000|PMID:28393577|PMID:2840822|PMID:28434346|PMID:28460244|PMID:28475415|PMID:28484271|PMID:28492532|PMID:28494620|PMID:28508289|PMID:2856994|PMID:2857043|PMID:28635949|PMID:28646538|PMID:28716239|PMID:28728692|PMID:28762097|PMID:2877582|PMID:28798025|PMID:28878402|PMID:28882124|PMID:28911993|PMID:2891727|PMID:2896079|PMID:28991715|PMID:29048471|PMID:29121657|PMID:29246775|PMID:29277593|PMID:29322995|PMID:29407121|PMID:29423915|PMID:29455155|PMID:29493581|PMID:29520877|PMID:29524093|PMID:29540472|PMID:29607936|PMID:29764897|PMID:29801893|PMID:2981253|PMID:29875424|PMID:29883834|PMID:29970125|PMID:29984770|PMID:30019395|PMID:30039724|PMID:30070416|PMID:30093168|PMID:3011930|PMID:30169969|PMID:30198232|PMID:30213731|PMID:3022107|PMID:3022108|PMID:3022697|PMID:30226982|PMID:30243104|PMID:3030336|PMID:30306720|PMID:30311386|PMID:30328212|PMID:30336828|PMID:30350904|PMID:30361054|PMID:30553273|PMID:30572722|PMID:30604309|PMID:30638075|PMID:30683924|PMID:30685801|PMID:30811423|PMID:30813263|PMID:30847666|PMID:30938420|PMID:3097057|PMID:30981840|PMID:31006018|PMID:31018485|PMID:31074293|PMID:31103217|PMID:31135624|PMID:31139689|PMID:31257920|PMID:31343285|PMID:31343308|PMID:31343348|PMID:31348283|PMID:31353960|PMID:31359320|PMID:31371117|PMID:31502881|PMID:31517333|PMID:31554435|PMID:31583185|PMID:31587306|PMID:31589614|PMID:31648569|PMID:31659433|PMID:31713445|PMID:31718691|PMID:31728576|PMID:31740141|PMID:3178532|PMID:31821430|PMID:31826067|PMID:31864976|PMID:31919945|PMID:31932463|PMID:31980526|PMID:32000831|PMID:32150461|PMID:32269295|PMID:3229002|PMID:32376792|PMID:32395865|PMID:32399692|PMID:32461654|PMID:32528171|PMID:32674397|PMID:32696671|PMID:32740500|PMID:32746448|PMID:32749600|PMID:32789836|PMID:32852783|PMID:32861330|PMID:32880476|PMID:32893242|PMID:32925285|PMID:33038745|PMID:33094885|PMID:33114611|PMID:33283548|PMID:33309574|PMID:33345470|PMID:33373035|PMID:3340821|PMID:33411102|PMID:33411323|PMID:33467513|PMID:33726816|PMID:33739616|PMID:33844361|PMID:34024775|PMID:34047656|PMID:34079032|PMID:34317109|PMID:34380564|PMID:34391735|PMID:34440326|PMID:34495297|PMID:3457802|PMID:34585077|PMID:34658264|PMID:34729535|PMID:34740514|PMID:34746851|PMID:3479441|PMID:35115086|PMID:35377943|PMID:35417510|PMID:35451899|PMID:35592550|PMID:35637921|PMID:35653365|PMID:35665045|PMID:35717381|PMID:35730447|PMID:35841533|PMID:35903975|PMID:35933469|PMID:36003663|PMID:3627183|PMID:36289657|PMID:3676699|PMID:36994840|PMID:3722385|PMID:3760189|PMID:3762958|PMID:3908483|PMID:3934968|PMID:4079954|PMID:4138132|PMID:4354899|PMID:4884226|PMID:4952599|PMID:5507249|PMID:5652991|PMID:5799493|PMID:6087811|PMID:6100724|PMID:6208668|PMID:6311926|PMID:6549130 8783759 Ttr transthyretin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737331 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:6583672|PMID:6651852|PMID:6736244|PMID:6782125|PMID:6801514|PMID:7018469|PMID:7389759|PMID:7599630|PMID:7608709|PMID:7643356|PMID:7655883|PMID:7656439|PMID:7839813|PMID:7868124|PMID:7906282|PMID:7914929|PMID:7923855|PMID:7951260|PMID:8038017|PMID:8064809|PMID:8071954|PMID:8081397|PMID:8095302|PMID:8100581|PMID:8102146|PMID:8133316|PMID:8194279|PMID:8275943|PMID:8309582|PMID:8345041|PMID:8352764|PMID:8406434|PMID:8428916|PMID:8509786|PMID:8536704|PMID:8563114|PMID:8579098|PMID:8692810|PMID:8698351|PMID:8721565|PMID:8778271|PMID:8784093|PMID:8830175|PMID:8857732|PMID:8990019|PMID:9017939|PMID:9090525|PMID:9196903|PMID:9215058|PMID:9268242|PMID:9395311|PMID:9428731|PMID:9475090|PMID:9536098|PMID:9547003|PMID:9627498|PMID:9701270|PMID:9748014|PMID:9748569|PMID:9771673|PMID:9798666|PMID:9818054|PMID:9818883|PMID:9843084 8783759 Ttr transthyretin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 8783759 Ttr transthyretin gene DOID:9002395 Hypothermia ISO RGD:3916 D RGD:9068941 20231130 RGD mRNA:decreased expression:frontal cortex PMID:21377399|REF_RGD_ID:401901086 8783759 Ttr transthyretin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 8783759 Ttr transthyretin gene DOID:9003163 Heart Block ISO RGD:737331 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:10439123|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29875424|PMID:31371117|PMID:35903975 8783759 Ttr transthyretin gene DOID:9004492 Familial Amyloidosis ISO RGD:737331 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary amyloidosis PMID:10694917|PMID:12039669|PMID:15123043|PMID:17443043|PMID:17503405|PMID:19781421|PMID:20209591|PMID:21692911|PMID:22745357|PMID:24030042|PMID:24101130|PMID:24480837|PMID:25741868|PMID:26467025|PMID:26537620|PMID:26656838|PMID:27025994|PMID:27066555|PMID:28434346|PMID:28492532|PMID:29520877|PMID:30306720|PMID:31139689|PMID:32393063|PMID:34440326|PMID:34658264|PMID:34746851|PMID:35417510|PMID:35637921|PMID:35665045|PMID:7914929|PMID:8081397|PMID:9748014 8783759 Ttr transthyretin gene DOID:9005172 Lung Neoplasms ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17902193|PMID:19180532 8783759 Ttr transthyretin gene DOID:9005236 Drug Eruptions ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 8783759 Ttr transthyretin gene DOID:9006478 Amyloid Neuropathies ISO RGD:737331 D RGD:9068941 20200609 RGD PMID:15793844|REF_RGD_ID:1580527 8783759 Ttr transthyretin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8783759 Ttr transthyretin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8783759 Ttr transthyretin gene DOID:9120 amyloidosis ISO RGD:737331 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:10071047|PMID:15820680|PMID:20209591|PMID:25488473|PMID:25741868|PMID:28492532|PMID:28646538|PMID:31074293|PMID:9818054 8783759 Ttr transthyretin gene DOID:9256 colorectal cancer ISO RGD:737331 D RGD:9068941 20220310 RGD protein:decreased expression:blood serum (human) PMID:21136704|REF_RGD_ID:151664608 8783767 Sycp2l synaptonemal complex protein 2 like gene DOID:630 genetic disease ISO RGD:1604969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF PMID:25741868|PMID:25772934 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0080198 infantile histiocytoid cardiomyopathy ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foamy myocardial transformation of infancy PMID:25741868|PMID:25772934 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 PMID:25741868|PMID:25772934 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111875 MLS syndrome ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MLS syndrome PMID:25741868|PMID:25772934 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111876 linear skin defects with multiple congenital anomalies 3 ISO RGD:1347474 D RGD:7240710 20180130 OMIM 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0111876 linear skin defects with multiple congenital anomalies 3 ISO RGD:1347474 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 PMID:25741868|PMID:25772934|PMID:26741492|PMID:27488349|PMID:28050600|PMID:28492532|PMID:30423443|PMID:31243186|PMID:36252119 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:25772934 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112098 nuclear type mitochondrial complex I deficiency 30 ISO RGD:1347474 D RGD:7240710 20190315 OMIM 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112098 nuclear type mitochondrial complex I deficiency 30 ISO RGD:1347474 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 PMID:25741868|PMID:25772934|PMID:26741492|PMID:27488349|PMID:28050600|PMID:28492532|PMID:30423443|PMID:31243186|PMID:36252119 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:12849 autistic disorder ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:630 genetic disease ISO RGD:1347474 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8783810 Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8783819 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8783819 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:1059 intellectual disability ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8783819 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 8783819 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:3070 high grade glioma ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8783819 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:574 peripheral nervous system disease ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 8783819 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8783819 Flrt1 fibronectin leucine rich transmembrane protein 1 gene DOID:870 neuropathy ISO RGD:1345456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 8783835 Hp1bp3 heterochromatin protein 1 binding protein 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8783835 Hp1bp3 heterochromatin protein 1 binding protein 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606796 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8783835 Hp1bp3 heterochromatin protein 1 binding protein 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8783835 Hp1bp3 heterochromatin protein 1 binding protein 3 gene DOID:630 genetic disease ISO RGD:1606796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783835 Hp1bp3 heterochromatin protein 1 binding protein 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8783869 Ddo D-aspartate oxidase gene DOID:1876 sexual dysfunction ISO RGD:1314668 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:16525061 8783869 Ddo D-aspartate oxidase gene DOID:630 genetic disease ISO RGD:1314668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783869 Ddo D-aspartate oxidase gene DOID:9004657 Weight Gain ISO RGD:1314668 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:16525061 8783869 Ddo D-aspartate oxidase gene DOID:9004866 Ataxia ISO RGD:1314668 D RGD:9068941 20211015 CTD CTD Direct Evidence: therapeutic PMID:25979765 8783901 Csnk1a1 casein kinase 1 alpha 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:736167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8783901 Csnk1a1 casein kinase 1 alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736167 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8783901 Csnk1a1 casein kinase 1 alpha 1 gene DOID:10652 Alzheimer's disease ISO RGD:736167 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:10514399|REF_RGD_ID:10395229 8783901 Csnk1a1 casein kinase 1 alpha 1 gene DOID:3429 inclusion body myositis ISO RGD:736167 D RGD:9068941 20200609 RGD protein:increased expression:muscle: PMID:18191026|REF_RGD_ID:10395231 8783901 Csnk1a1 casein kinase 1 alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8783901 Csnk1a1 casein kinase 1 alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736167 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8783901 Csnk1a1 casein kinase 1 alpha 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 8783948 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1603839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25583766 8783948 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1603839 D RGD:7240710 20190315 OMIM 8783948 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1603839 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 PMID:24033266|PMID:25741868|PMID:27016798|PMID:28492532|PMID:35538558 8783948 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8783948 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:630 genetic disease ISO RGD:1603839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8783948 Irf2bp2 interferon regulatory factor 2 binding protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8783960 Mocs3 molybdenum cofactor synthesis 3 gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:1316006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E PMID:10642597|PMID:10642602|PMID:28492532 8783960 Mocs3 molybdenum cofactor synthesis 3 gene DOID:630 genetic disease ISO RGD:1316006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8783960 Mocs3 molybdenum cofactor synthesis 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1316006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 8783965 Zbtb8a zinc finger and BTB domain containing 8A gene DOID:630 genetic disease ISO RGD:1318711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8783988 Mocs2 molybdenum cofactor synthesis 2 gene DOID:0111045 platelet-type bleeding disorder 9 ISO RGD:1347583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COLLAGEN PLATELET RECEPTOR DEFICIENCY | ClinVar Annotator: match by term: Platelet-type bleeding disorder 9 8783988 Mocs2 molybdenum cofactor synthesis 2 gene DOID:0111163 molybdenum cofactor deficiency type B ISO RGD:1347583 D RGD:7240710 20180130 OMIM 8783988 Mocs2 molybdenum cofactor synthesis 2 gene DOID:0111163 molybdenum cofactor deficiency type B ISO RGD:1347583 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B PMID:10053003|PMID:10053004|PMID:11746050|PMID:12732628|PMID:12754701|PMID:1427786|PMID:16021469|PMID:16737835|PMID:17576681|PMID:21031595|PMID:22759696|PMID:23436702|PMID:24033266|PMID:25741868|PMID:27146152|PMID:27289259|PMID:28492532|PMID:30810871|PMID:33502714|PMID:9459218|PMID:9536098 8783988 Mocs2 molybdenum cofactor synthesis 2 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1347583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A PMID:11746050|PMID:21031595|PMID:28492532 8783988 Mocs2 molybdenum cofactor synthesis 2 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1347583 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency PMID:10053004|PMID:21031595|PMID:28492532 8783988 Mocs2 molybdenum cofactor synthesis 2 gene DOID:630 genetic disease ISO RGD:1347583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8783988 Mocs2 molybdenum cofactor synthesis 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8784006 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8784006 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:0090033 myoclonic dystonia ISO RGD:1353287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8784006 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1353287 D RGD:7240710 20180130 OMIM 8784006 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1353287 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25741868|PMID:25983243|PMID:28492532|PMID:9536098 8784006 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1353287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8784006 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1353287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8784006 Kctd17 potassium channel tetramerization domain containing 17 gene DOID:630 genetic disease ISO RGD:1353287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8784043 Nxn nucleoredoxin gene DOID:630 genetic disease ISO RGD:1321419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8784043 Nxn nucleoredoxin gene DOID:9007716 Autosomal Recessive Robinow Syndrome 2 ISO RGD:1321419 D RGD:7240710 20190904 OMIM 8784043 Nxn nucleoredoxin gene DOID:9007716 Autosomal Recessive Robinow Syndrome 2 ISO RGD:1321419 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2 PMID:25741868|PMID:28492532|PMID:29276006 8784043 Nxn nucleoredoxin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 8784056 Brd9 bromodomain containing 9 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 8784056 Brd9 bromodomain containing 9 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1316511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 8784056 Brd9 bromodomain containing 9 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1316511 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8784056 Brd9 bromodomain containing 9 gene DOID:630 genetic disease ISO RGD:1316511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784056 Brd9 bromodomain containing 9 gene DOID:8541 Sezary's disease ISO RGD:1316511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8784081 Ucn urocortin gene DOID:0060180 colitis ISO RGD:3929 D RGD:9068941 20200609 RGD mRNA:altered expression:distal colon (rat) PMID:21330446|REF_RGD_ID:5490987 8784081 Ucn urocortin gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1349219 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) PMID:23714749|PMID:25741868|PMID:28492532|PMID:30298599 8784081 Ucn urocortin gene DOID:0080855 Parkinsonism ISO RGD:3929 D RGD:9068941 20200609 RGD PMID:21362449|REF_RGD_ID:5508188 8784081 Ucn urocortin gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1349219 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE PMID:25741868|PMID:28492532|PMID:30298599 8784081 Ucn urocortin gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8784081 Ucn urocortin gene DOID:10763 hypertension ISO RGD:1349219 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20237592 8784081 Ucn urocortin gene DOID:10763 hypertension ISO RGD:1349219 D RGD:9068941 20200609 RGD associated with Pregnancy Complications;protein:increased expression:plasma PMID:16915033|REF_RGD_ID:1642775 8784081 Ucn urocortin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349219 D RGD:9068941 20200609 RGD PMID:14577573|REF_RGD_ID:1580792 8784081 Ucn urocortin gene DOID:12918 thromboangiitis obliterans ISO RGD:3929 D RGD:9068941 20200609 RGD PMID:19572944|REF_RGD_ID:5508315 8784081 Ucn urocortin gene DOID:12930 dilated cardiomyopathy ISO RGD:1349219 D RGD:9068941 20200609 RGD PMID:14577573|REF_RGD_ID:1580792 8784081 Ucn urocortin gene DOID:12930 dilated cardiomyopathy ISO RGD:1349219 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:11087261|REF_RGD_ID:1642796 8784081 Ucn urocortin gene DOID:2030 anxiety disorder ISO RGD:1349219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16488545 8784081 Ucn urocortin gene DOID:2841 asthma ISO RGD:3929 D RGD:9068941 20200609 RGD associated with Hypersensitivity;mRNA, protein:increased expression:lung PMID:16427607|REF_RGD_ID:1642781 8784081 Ucn urocortin gene DOID:6000 congestive heart failure ISO RGD:1349219 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:19808377|REF_RGD_ID:5490589 8784081 Ucn urocortin gene DOID:630 genetic disease ISO RGD:1349219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784081 Ucn urocortin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3929 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart left ventricle PMID:11087261|REF_RGD_ID:1642796 8784081 Ucn urocortin gene DOID:9005372 Inflammation ISO RGD:1349219 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10213916 8784081 Ucn urocortin gene DOID:9006024 Hypotension ISO RGD:1349219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10213916 8784081 Ucn urocortin gene DOID:9007730 Burns ISO RGD:3929 D RGD:9068941 20200609 RGD PMID:16125201|REF_RGD_ID:1642782 8784081 Ucn urocortin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3929 D RGD:9068941 20200609 RGD PMID:15806110|REF_RGD_ID:1642783 8784081 Ucn urocortin gene DOID:9970 obesity treatment ISO RGD:735588 D RGD:9068941 20200609 RGD PMID:17932219|REF_RGD_ID:1642774 8784087 Cd200r1 CD200 receptor 1 gene DOID:630 genetic disease ISO RGD:1606724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784087 Cd200r1 CD200 receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8784107 Isx intestine specific homeobox gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1605896 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 8784107 Isx intestine specific homeobox gene DOID:630 genetic disease ISO RGD:1605896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784137 Tlr2 toll like receptor 2 gene DOID:0050073 invasive aspergillosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:16113258|REF_RGD_ID:8553022 8784137 Tlr2 toll like receptor 2 gene DOID:0050127 sinusitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium: PMID:14743629|REF_RGD_ID:8552991 8784137 Tlr2 toll like receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15505089 8784137 Tlr2 toll like receptor 2 gene DOID:0050855 renal fibrosis ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22777483|REF_RGD_ID:7207895 8784137 Tlr2 toll like receptor 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28963909 8784137 Tlr2 toll like receptor 2 gene DOID:0060189 ileitis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:18266231|REF_RGD_ID:2312714 8784137 Tlr2 toll like receptor 2 gene DOID:0060224 atrial fibrillation ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:monocyte: PMID:19167648|REF_RGD_ID:8552974 8784137 Tlr2 toll like receptor 2 gene DOID:0060322 mastoiditis ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 8784137 Tlr2 toll like receptor 2 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17686871|REF_RGD_ID:7794851 8784137 Tlr2 toll like receptor 2 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:haplotype: :2477G>A(rs5743708)(human) PMID:23691182|REF_RGD_ID:7800668 8784137 Tlr2 toll like receptor 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:29482933|REF_RGD_ID:15090806 8784137 Tlr2 toll like receptor 2 gene DOID:0080784 urinary tract infection susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R753Q (human) PMID:18001294|REF_RGD_ID:7240561 8784137 Tlr2 toll like receptor 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16524509|REF_RGD_ID:2312724 8784137 Tlr2 toll like receptor 2 gene DOID:10140 dry eye syndrome ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease;mRNA:increased expression:peripheral blood cell: PMID:22025895|REF_RGD_ID:8552821 8784137 Tlr2 toll like receptor 2 gene DOID:10140 dry eye syndrome ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea,conjunctiva,lacrimal gland: PMID:23372055|REF_RGD_ID:8552916 8784137 Tlr2 toll like receptor 2 gene DOID:10223 dermatomyositis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle PMID:19953283|REF_RGD_ID:7794747 8784137 Tlr2 toll like receptor 2 gene DOID:1024 leprosy ISO RGD:1353654 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 3 PMID:11476982|PMID:12646604|PMID:15726416|PMID:19111445|PMID:25741868|PMID:28492532 8784137 Tlr2 toll like receptor 2 gene DOID:1024 leprosy susceptibility ISO RGD:1353654 D RGD:7240710 20190502 OMIM 8784137 Tlr2 toll like receptor 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:deletion:promoter:−196_−174del (human) PMID:22311043|REF_RGD_ID:7207899 8784137 Tlr2 toll like receptor 2 gene DOID:1074 kidney failure ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:16177646|REF_RGD_ID:7241085 8784137 Tlr2 toll like receptor 2 gene DOID:10754 otitis media ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:middle ear: PMID:23380629|REF_RGD_ID:7800666 8784137 Tlr2 toll like receptor 2 gene DOID:10754 otitis media ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 8784137 Tlr2 toll like receptor 2 gene DOID:10754 otitis media ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Haemophilus Infections; PMID:19586996|REF_RGD_ID:7777086 8784137 Tlr2 toll like receptor 2 gene DOID:10754 otitis media ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections; PMID:19414550|REF_RGD_ID:8552783 8784137 Tlr2 toll like receptor 2 gene DOID:10825 essential hypertension ISO RGD:1353654 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 8784137 Tlr2 toll like receptor 2 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell: PMID:23946637|REF_RGD_ID:8552827 8784137 Tlr2 toll like receptor 2 gene DOID:10964 cholesteatoma of middle ear ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 8784137 Tlr2 toll like receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:deletion:promoter:−196_−174del (human) PMID:23142523|REF_RGD_ID:7207893 8784137 Tlr2 toll like receptor 2 gene DOID:11168 anogenital venereal wart ISO RGD:1353654 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 8784137 Tlr2 toll like receptor 2 gene DOID:11204 allergic conjunctivitis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:19358332|REF_RGD_ID:8552826 8784137 Tlr2 toll like receptor 2 gene DOID:11339 pneumocystosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18400546|REF_RGD_ID:4145341 8784137 Tlr2 toll like receptor 2 gene DOID:11506 suppurative otitis media ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mucosa: PMID:22883581|REF_RGD_ID:7800662 8784137 Tlr2 toll like receptor 2 gene DOID:12148 alveolar echinococcosis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:PBMC PMID:30141853|REF_RGD_ID:15090814 8784137 Tlr2 toll like receptor 2 gene DOID:12306 vitiligo susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R753Q(human) PMID:22429552|REF_RGD_ID:7777152 8784137 Tlr2 toll like receptor 2 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19019963|REF_RGD_ID:4889534 8784137 Tlr2 toll like receptor 2 gene DOID:13001 carotid stenosis treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:22167462|REF_RGD_ID:7241095 8784137 Tlr2 toll like receptor 2 gene DOID:13078 eumycotic mycetoma ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression:footpad: PMID:21205004|REF_RGD_ID:7794752 8784137 Tlr2 toll like receptor 2 gene DOID:13241 Behcet's disease ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine: PMID:18336589|REF_RGD_ID:8552915 8784137 Tlr2 toll like receptor 2 gene DOID:13241 Behcet's disease ISO RGD:1353654 D RGD:9068941 20200609 RGD protein,mRNA:increased expression:peripheral blood mononuclear cell PMID:23908180|REF_RGD_ID:8552883 8784137 Tlr2 toll like receptor 2 gene DOID:13241 Behcet's disease no_association ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism: :12408G>A(human) PMID:19796535|REF_RGD_ID:8552888 8784137 Tlr2 toll like receptor 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNPs: : rs2289318,rs3804099(human) PMID:24255044|REF_RGD_ID:8552885 8784137 Tlr2 toll like receptor 2 gene DOID:13258 typhoid fever ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:25667264|REF_RGD_ID:11061268 8784137 Tlr2 toll like receptor 2 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:decreased expression:alveolar macrophage PMID:20813038|REF_RGD_ID:4145301 8784137 Tlr2 toll like receptor 2 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:23668840|REF_RGD_ID:8553184 8784137 Tlr2 toll like receptor 2 gene DOID:13564 aspergillosis ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19781388|REF_RGD_ID:4145322 8784137 Tlr2 toll like receptor 2 gene DOID:13580 cholestasis ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8784137 Tlr2 toll like receptor 2 gene DOID:13603 obstructive jaundice treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:29366780|REF_RGD_ID:15090858 8784137 Tlr2 toll like receptor 2 gene DOID:13767 clonorchiasis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:28784165|REF_RGD_ID:15090810 8784137 Tlr2 toll like receptor 2 gene DOID:1407 anterior uveitis ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:17389503|REF_RGD_ID:8552823 8784137 Tlr2 toll like receptor 2 gene DOID:14221 abdominal obesity-metabolic syndrome 1 susceptibility ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19841034|REF_RGD_ID:15090861 8784137 Tlr2 toll like receptor 2 gene DOID:1495 cystic echinococcosis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood monocyte: PMID:21923667|REF_RGD_ID:18182935 8784137 Tlr2 toll like receptor 2 gene DOID:1495 cystic echinococcosis disease_progression ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:mutation:cds:Arg753Gln(human) PMID:31437685|REF_RGD_ID:15090825 8784137 Tlr2 toll like receptor 2 gene DOID:1580 diffuse scleroderma disease_progression ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.P631H(rs5743704)(human) PMID:21905008|REF_RGD_ID:8553044 8784137 Tlr2 toll like receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:deletion:promotor:-196_-174del(human) PMID:22560646|REF_RGD_ID:7794753 8784137 Tlr2 toll like receptor 2 gene DOID:1936 atherosclerosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17466307|REF_RGD_ID:8552973 8784137 Tlr2 toll like receptor 2 gene DOID:2043 hepatitis B treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:30008718|REF_RGD_ID:15090859 8784137 Tlr2 toll like receptor 2 gene DOID:2297 leptospirosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19635914|REF_RGD_ID:7240557 8784137 Tlr2 toll like receptor 2 gene DOID:2841 asthma ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs3804100 (human) PMID:19148143|REF_RGD_ID:2312679 8784137 Tlr2 toll like receptor 2 gene DOID:2841 asthma ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18202345|PMID:18787777|REF_RGD_ID:4145334|REF_RGD_ID:4145343 8784137 Tlr2 toll like receptor 2 gene DOID:2841 asthma severity ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R753Q(human) PMID:22402138|REF_RGD_ID:7800732 8784137 Tlr2 toll like receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :596T>C (human) PMID:19096003|REF_RGD_ID:4144228 8784137 Tlr2 toll like receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs4696480 (human) PMID:20685742|REF_RGD_ID:4144171 8784137 Tlr2 toll like receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs7656411 (human) PMID:20815312|REF_RGD_ID:4145352 8784137 Tlr2 toll like receptor 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 8784137 Tlr2 toll like receptor 2 gene DOID:2921 glomerulonephritis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:16849506|REF_RGD_ID:7241071 8784137 Tlr2 toll like receptor 2 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8784137 Tlr2 toll like receptor 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:20113509|REF_RGD_ID:4145320 8784137 Tlr2 toll like receptor 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood, T cell PMID:19552525|REF_RGD_ID:4145355 8784137 Tlr2 toll like receptor 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs1816702 (human) PMID:19723394|REF_RGD_ID:4145323 8784137 Tlr2 toll like receptor 2 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:20298136|REF_RGD_ID:4145304 8784137 Tlr2 toll like receptor 2 gene DOID:3021 acute kidney failure ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 8784137 Tlr2 toll like receptor 2 gene DOID:3021 acute kidney failure ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22655058|REF_RGD_ID:7207898 8784137 Tlr2 toll like receptor 2 gene DOID:3178 skin papilloma ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression,altered expression:cytoplasm,membrane, nucleus: PMID:24617037|REF_RGD_ID:8553046 8784137 Tlr2 toll like receptor 2 gene DOID:3310 atopic dermatitis ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:17531301|REF_RGD_ID:8552999 8784137 Tlr2 toll like receptor 2 gene DOID:3310 atopic dermatitis severity ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism: :-16934A>T(human) PMID:19627277|REF_RGD_ID:8552997 8784137 Tlr2 toll like receptor 2 gene DOID:3310 atopic dermatitis severity ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R753Q(human) PMID:22032785|REF_RGD_ID:8553048 8784137 Tlr2 toll like receptor 2 gene DOID:3410 carotid artery thrombosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:28572286|REF_RGD_ID:15090824 8784137 Tlr2 toll like receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:20610040|REF_RGD_ID:4144177 8784137 Tlr2 toll like receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Pneumonia PMID:19109203|REF_RGD_ID:4145324 8784137 Tlr2 toll like receptor 2 gene DOID:399 tuberculosis ISO RGD:1353654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:14979495|PMID:16081826|PMID:22992740 8784137 Tlr2 toll like receptor 2 gene DOID:399 tuberculosis susceptibility ISO RGD:1353654 D RGD:7240710 20190502 OMIM 8784137 Tlr2 toll like receptor 2 gene DOID:4481 allergic rhinitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal mucosa: PMID:18219831|REF_RGD_ID:7800742 8784137 Tlr2 toll like receptor 2 gene DOID:4481 allergic rhinitis ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil: PMID:22555057|REF_RGD_ID:8552993 8784137 Tlr2 toll like receptor 2 gene DOID:4481 allergic rhinitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18381801|REF_RGD_ID:8552972 8784137 Tlr2 toll like receptor 2 gene DOID:4481 allergic rhinitis severity ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R753Q(human) PMID:22402138|REF_RGD_ID:7800732 8784137 Tlr2 toll like receptor 2 gene DOID:4483 rhinitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal mucosa: PMID:18219831|REF_RGD_ID:7800742 8784137 Tlr2 toll like receptor 2 gene DOID:4483 rhinitis no_association ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Sinusitis;DNA:SNPs: :multiple (human) PMID:19128592|REF_RGD_ID:4145356 8784137 Tlr2 toll like receptor 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNPs: :597T>C, 1350T>C (human) PMID:19763595|REF_RGD_ID:4145354 8784137 Tlr2 toll like receptor 2 gene DOID:4677 keratitis ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 8784137 Tlr2 toll like receptor 2 gene DOID:4677 keratitis ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea: PMID:18398706|REF_RGD_ID:8552914 8784137 Tlr2 toll like receptor 2 gene DOID:4677 keratitis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Onchocerciasis, Ocular; PMID:17875630|REF_RGD_ID:7794840 8784137 Tlr2 toll like receptor 2 gene DOID:4677 keratitis treatment ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Aspergillosis: PMID:21647173|REF_RGD_ID:8552816 8784137 Tlr2 toll like receptor 2 gene DOID:4692 endophthalmitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19995266|PMID:22163046|REF_RGD_ID:8552880|REF_RGD_ID:8553060 8784137 Tlr2 toll like receptor 2 gene DOID:4989 pancreatitis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:19260515|REF_RGD_ID:2312507 8784137 Tlr2 toll like receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:24815695|REF_RGD_ID:15090811 8784137 Tlr2 toll like receptor 2 gene DOID:552 pneumonia susceptibility ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19011150|REF_RGD_ID:4145330 8784137 Tlr2 toll like receptor 2 gene DOID:5614 eye disease ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16146574|REF_RGD_ID:8552913 8784137 Tlr2 toll like receptor 2 gene DOID:6000 congestive heart failure ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 8784137 Tlr2 toll like receptor 2 gene DOID:630 genetic disease ISO RGD:1353654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784137 Tlr2 toll like receptor 2 gene DOID:6543 acne ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:18241264|REF_RGD_ID:8553025 8784137 Tlr2 toll like receptor 2 gene DOID:6543 acne severity ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:20726329|REF_RGD_ID:8553024 8784137 Tlr2 toll like receptor 2 gene DOID:6543 acne susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R753Q(human) PMID:20861605|REF_RGD_ID:8553023 8784137 Tlr2 toll like receptor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:deletion:promoter:-196 to -174(human) PMID:27183918|REF_RGD_ID:15090815 8784137 Tlr2 toll like receptor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:deletion:promoter:-196 to -174(human) PMID:21500195|REF_RGD_ID:15090813 8784137 Tlr2 toll like receptor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22859216|REF_RGD_ID:18337266 8784137 Tlr2 toll like receptor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8784137 Tlr2 toll like receptor 2 gene DOID:783 end stage renal disease ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:20729266|REF_RGD_ID:7240546 8784137 Tlr2 toll like receptor 2 gene DOID:7894 mite infestation ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29253318 8784137 Tlr2 toll like receptor 2 gene DOID:850 lung disease ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Mycobacterium avium-intracellulare Infection;DNA:polymorphism:intron (human) PMID:18602432|REF_RGD_ID:4145340 8784137 Tlr2 toll like receptor 2 gene DOID:850 lung disease ISO RGD:735138 D RGD:9068941 20200609 RGD Acute Lung Injury;mRNA:increased expression:lung PMID:20441697|REF_RGD_ID:4145303 8784137 Tlr2 toll like receptor 2 gene DOID:850 lung disease ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Hyperoxia;mRNA, protein:increased expression:lung PMID:19956717|REF_RGD_ID:4145321 8784137 Tlr2 toll like receptor 2 gene DOID:850 lung disease ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing PMID:16286274|REF_RGD_ID:2312725 8784137 Tlr2 toll like receptor 2 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:decreased expression:sputum, macrophage PMID:21426732|REF_RGD_ID:7240539 8784137 Tlr2 toll like receptor 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 8784137 Tlr2 toll like receptor 2 gene DOID:869 cholesteatoma ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mucosa: PMID:22883581|REF_RGD_ID:7800662 8784137 Tlr2 toll like receptor 2 gene DOID:874 bacterial pneumonia ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18768871|REF_RGD_ID:4145337 8784137 Tlr2 toll like receptor 2 gene DOID:874 bacterial pneumonia ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:19844782|REF_RGD_ID:4889533 8784137 Tlr2 toll like receptor 2 gene DOID:8741 seborrheic dermatitis treatment ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:21566548|REF_RGD_ID:8553045 8784137 Tlr2 toll like receptor 2 gene DOID:8867 molluscum contagiosum ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression,altered expression:cytoplasm,membrane, nucleus: PMID:24617037|REF_RGD_ID:8553046 8784137 Tlr2 toll like receptor 2 gene DOID:8893 psoriasis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:23457721|REF_RGD_ID:7777173 8784137 Tlr2 toll like receptor 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 8784137 Tlr2 toll like receptor 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Plaque,Atherosclerotic;mRNA:increased expression:mononuclear cell: PMID:23457721|REF_RGD_ID:7777173 8784137 Tlr2 toll like receptor 2 gene DOID:9000641 Pain ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 8784137 Tlr2 toll like receptor 2 gene DOID:9000889 Escherichia Coli Meningitis ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 8784137 Tlr2 toll like receptor 2 gene DOID:9000972 Fever ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22042912|REF_RGD_ID:7241096 8784137 Tlr2 toll like receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8784137 Tlr2 toll like receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18316784|REF_RGD_ID:2312713 8784137 Tlr2 toll like receptor 2 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:gingiva: PMID:21848608|REF_RGD_ID:7794852 8784137 Tlr2 toll like receptor 2 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Chlamydophila Infections; PMID:20393111|REF_RGD_ID:8552825 8784137 Tlr2 toll like receptor 2 gene DOID:9001371 Eosinophilia ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 8784137 Tlr2 toll like receptor 2 gene DOID:9001472 Nasal Polyps ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;mRNA:increased expression:inferior nasal concha: PMID:15836755|REF_RGD_ID:8552992 8784137 Tlr2 toll like receptor 2 gene DOID:9001488 Human Influenza ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:18657324|REF_RGD_ID:4145339 8784137 Tlr2 toll like receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:27601294|REF_RGD_ID:18182936 8784137 Tlr2 toll like receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:22683883|REF_RGD_ID:7241092 8784137 Tlr2 toll like receptor 2 gene DOID:9001949 Fungal Eye Infections ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:19474209|REF_RGD_ID:2312502 8784137 Tlr2 toll like receptor 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19956717|REF_RGD_ID:4145321 8784137 Tlr2 toll like receptor 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:16038046|REF_RGD_ID:15090805 8784137 Tlr2 toll like receptor 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:25769561|REF_RGD_ID:15090809 8784137 Tlr2 toll like receptor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21617141|REF_RGD_ID:7241083 8784137 Tlr2 toll like receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17355971|REF_RGD_ID:8553059 8784137 Tlr2 toll like receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 8784137 Tlr2 toll like receptor 2 gene DOID:9002371 Cardiotoxicity ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 8784137 Tlr2 toll like receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:20131263|REF_RGD_ID:8552884 8784137 Tlr2 toll like receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:21725847|REF_RGD_ID:7241099 8784137 Tlr2 toll like receptor 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18003835|REF_RGD_ID:2312723 8784137 Tlr2 toll like receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735138 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18644848|REF_RGD_ID:2312575 8784137 Tlr2 toll like receptor 2 gene DOID:9002823 Gram-Positive Bacterial Infections ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18354210|REF_RGD_ID:7240560 8784137 Tlr2 toll like receptor 2 gene DOID:9003036 Oral Lichen Planus ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:monocyte,buccal mucosa: PMID:21544941|REF_RGD_ID:8553047 8784137 Tlr2 toll like receptor 2 gene DOID:9003321 Bacterial Keratitis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections; PMID:23841825|REF_RGD_ID:8552886 8784137 Tlr2 toll like receptor 2 gene DOID:9003321 Bacterial Keratitis ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:16926427|REF_RGD_ID:8552819 8784137 Tlr2 toll like receptor 2 gene DOID:9003370 Dyslipidemias ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:23295061|REF_RGD_ID:7241091 8784137 Tlr2 toll like receptor 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:28139935|REF_RGD_ID:15090829 8784137 Tlr2 toll like receptor 2 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:21190299|REF_RGD_ID:7240543 8784137 Tlr2 toll like receptor 2 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:20806060|REF_RGD_ID:5130178 8784137 Tlr2 toll like receptor 2 gene DOID:9003870 Herpes Simplex Encephalitis disease_progression ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:14739339|REF_RGD_ID:8553026 8784137 Tlr2 toll like receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25780291 8784137 Tlr2 toll like receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:735138 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:15912106|REF_RGD_ID:2312727 8784137 Tlr2 toll like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1353654 D RGD:9068941 20200609 RGD kidney PMID:20628182|REF_RGD_ID:7240551 8784137 Tlr2 toll like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1353654 D RGD:9068941 20200609 RGD liver;DNA:SNP: :p.R753Q (human) PMID:20090572|REF_RGD_ID:7240554 8784137 Tlr2 toll like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:20038715|PMID:22042224|REF_RGD_ID:7207901|REF_RGD_ID:7240555 8784137 Tlr2 toll like receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:735138 D RGD:9068941 20200609 RGD kidney PMID:20628182|REF_RGD_ID:7240551 8784137 Tlr2 toll like receptor 2 gene DOID:9004484 Sepsis ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:14604479|REF_RGD_ID:2312732 8784137 Tlr2 toll like receptor 2 gene DOID:9004484 Sepsis ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Burns;mRNA:increased expression:liver, lung, kidney PMID:12831613|REF_RGD_ID:1302750 8784137 Tlr2 toll like receptor 2 gene DOID:9004484 Sepsis ISO RGD:735138 D RGD:9068941 20200609 RGD associated with Liver Diseases;mRNA:increased expression:liver PMID:19489280|REF_RGD_ID:2312497 8784137 Tlr2 toll like receptor 2 gene DOID:9004538 Hearing Loss susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD associated with Meningitis,Bacterial; DNA:haplotype: :2477G>A(rs5743708)(human) PMID:22662111|REF_RGD_ID:7800663 8784137 Tlr2 toll like receptor 2 gene DOID:9005372 Inflammation ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22178603 8784137 Tlr2 toll like receptor 2 gene DOID:9005372 Inflammation ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Respiratory Hypersensitivity PMID:20016195|REF_RGD_ID:4889537 8784137 Tlr2 toll like receptor 2 gene DOID:9005372 Inflammation ISO RGD:1551003 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:19479087|REF_RGD_ID:7240558 8784137 Tlr2 toll like receptor 2 gene DOID:9005372 Inflammation ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:16154916|REF_RGD_ID:4889539 8784137 Tlr2 toll like receptor 2 gene DOID:9005473 Bacterial Eye Infections ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 8784137 Tlr2 toll like receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17707128|REF_RGD_ID:2312684 8784137 Tlr2 toll like receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:16740310|REF_RGD_ID:2312491 8784137 Tlr2 toll like receptor 2 gene DOID:9005930 Endotoxemia treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:22172266|REF_RGD_ID:7241094 8784137 Tlr2 toll like receptor 2 gene DOID:9005941 Rhinosinusitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:paranasal sinus PMID:22182736|REF_RGD_ID:7800733 8784137 Tlr2 toll like receptor 2 gene DOID:9005941 Rhinosinusitis susceptibility ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:polymorphisms:: rs3804099,rs3804100(human) PMID:21493395|REF_RGD_ID:8552975 8784137 Tlr2 toll like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:11801667|PMID:20130923|REF_RGD_ID:7240552|REF_RGD_ID:7241087 8784137 Tlr2 toll like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22750071|REF_RGD_ID:7207896 8784137 Tlr2 toll like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:23023072|REF_RGD_ID:7207894 8784137 Tlr2 toll like receptor 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:23239000|REF_RGD_ID:7207892 8784137 Tlr2 toll like receptor 2 gene DOID:9006647 Experimental Autoimmune Neuritis severity ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:19162137|REF_RGD_ID:2312712 8784137 Tlr2 toll like receptor 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1353654 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:18466103|PMID:31557154 8784137 Tlr2 toll like receptor 2 gene DOID:9006844 Streptococcal Infections severity ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:19179417|REF_RGD_ID:7240559 8784137 Tlr2 toll like receptor 2 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:1353654 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea: PMID:20012880|REF_RGD_ID:8552969 8784137 Tlr2 toll like receptor 2 gene DOID:9007073 Cough ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:decreased expression:sputum, macrophage PMID:21426732|REF_RGD_ID:7240539 8784137 Tlr2 toll like receptor 2 gene DOID:9007389 Acute Tubulointerstitial Nephritis ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22194975|REF_RGD_ID:7207900 8784137 Tlr2 toll like receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735138 D RGD:9068941 20200609 RGD PMID:19274437|REF_RGD_ID:2312688 8784137 Tlr2 toll like receptor 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:28414577|REF_RGD_ID:15090812 8784137 Tlr2 toll like receptor 2 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:25337250|REF_RGD_ID:15090826 8784137 Tlr2 toll like receptor 2 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:25771704|REF_RGD_ID:15090828 8784137 Tlr2 toll like receptor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16879199|PMID:17892325 8784137 Tlr2 toll like receptor 2 gene DOID:9008520 Chronic Pain ISO RGD:1353654 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 8784137 Tlr2 toll like receptor 2 gene DOID:9008595 Brain Abscess ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:16239543|REF_RGD_ID:8552881 8784137 Tlr2 toll like receptor 2 gene DOID:9008821 Otitis Media with Effusion ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:22336013|REF_RGD_ID:7364764 8784137 Tlr2 toll like receptor 2 gene DOID:9008885 Staphylococcal Infections ISO RGD:1353654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23661603 8784137 Tlr2 toll like receptor 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:20493664|REF_RGD_ID:7794748 8784137 Tlr2 toll like receptor 2 gene DOID:9146 visceral leishmaniasis disease_progression ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:23589575|REF_RGD_ID:15090808 8784137 Tlr2 toll like receptor 2 gene DOID:9256 colorectal cancer ISO RGD:1353654 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:25741868 8784137 Tlr2 toll like receptor 2 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1353654 D RGD:7240710 20230505 OMIM 8784137 Tlr2 toll like receptor 2 gene DOID:9368 keratoconjunctivitis ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:conjnctival epithelium: PMID:15875531|REF_RGD_ID:8552813 8784137 Tlr2 toll like receptor 2 gene DOID:9446 cholangitis disease_progression ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:30340822|REF_RGD_ID:15090860 8784137 Tlr2 toll like receptor 2 gene DOID:9675 pulmonary emphysema ISO RGD:1551003 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:18399852|REF_RGD_ID:4145342 8784137 Tlr2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :1350T>C (human) PMID:15699513|REF_RGD_ID:2312686 8784137 Tlr2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :rs3804100 (human) PMID:19148143|REF_RGD_ID:2312679 8784137 Tlr2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1353654 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:18029454|REF_RGD_ID:2312683 8784137 Tlr2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:17707128|REF_RGD_ID:2312684 8784137 Tlr2 toll like receptor 2 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:1353654 D RGD:9068941 20200609 RGD DNA:SNP: :1350T>C (human) PMID:17130564|REF_RGD_ID:2312687 8784137 Tlr2 toll like receptor 2 gene DOID:9970 obesity ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:18787058|REF_RGD_ID:2312681 8784137 Tlr2 toll-like receptor 2 gene DOID:11446 sciatic neuropathy ISO RGD:1551003 D RGD:9068941 20200609 RGD PMID:21125644|REF_RGD_ID:8553062 8784150 Pde4d phosphodiesterase 4D gene DOID:10485 esophageal atresia ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8784150 Pde4d phosphodiesterase 4D gene DOID:1059 intellectual disability ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8784150 Pde4d phosphodiesterase 4D gene DOID:14669 acrodysostosis ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrodysostosis PMID:25741868|PMID:28492532 8784150 Pde4d phosphodiesterase 4D gene DOID:1596 depressive disorder ISO RGD:3281 D RGD:9068941 20200609 RGD PMID:22487514|REF_RGD_ID:7327149 8784150 Pde4d phosphodiesterase 4D gene DOID:224 transient cerebral ischemia ISO RGD:3281 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1 PMID:22860212|REF_RGD_ID:7327148 8784150 Pde4d phosphodiesterase 4D gene DOID:2841 asthma ISO RGD:736102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19426955|PMID:21611147 8784150 Pde4d phosphodiesterase 4D gene DOID:630 genetic disease ISO RGD:736102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8784150 Pde4d phosphodiesterase 4D gene DOID:670 amphetamine abuse ISO RGD:736102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8784150 Pde4d phosphodiesterase 4D gene DOID:9000998 Brain Injuries ISO RGD:3281 D RGD:9068941 20200609 RGD mRNA, protein:alternative form, decreased phosphorylation:brain PMID:23057870|REF_RGD_ID:7327147 8784150 Pde4d phosphodiesterase 4D gene DOID:9002304 Prostatic Neoplasms ISO RGD:736102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16740699|PMID:29662167 8784150 Pde4d phosphodiesterase 4D gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:736102 D RGD:7240710 20180130 OMIM 8784150 Pde4d phosphodiesterase 4D gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:736102 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance PMID:11200992|PMID:12121997|PMID:15025561|PMID:21681106|PMID:22464250|PMID:22464252|PMID:23033274|PMID:24033266|PMID:24203977|PMID:25044890|PMID:25064455|PMID:25741868|PMID:28492532|PMID:30006632 8784150 Pde4d phosphodiesterase 4D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8784150 Pde4d phosphodiesterase 4D gene DOID:9007096 Stroke ISO RGD:3281 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, leukocyte PMID:17922411|REF_RGD_ID:2313907 8784150 Pde4d phosphodiesterase 4D gene DOID:9007096 Stroke ISO RGD:736102 D RGD:9068941 20200609 RGD PMID:14517540|PMID:16675738|PMID:16825591|PMID:16914755|REF_RGD_ID:1581003|REF_RGD_ID:1581004|REF_RGD_ID:1581005|REF_RGD_ID:1581007 8784197 Kctd6 potassium channel tetramerization domain containing 6 gene DOID:630 genetic disease ISO RGD:1317853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784197 Kctd6 potassium channel tetramerization domain containing 6 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1317853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8784210 Cmtr2 cap methyltransferase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1601859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8784210 Cmtr2 cap methyltransferase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1601859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8784210 Cmtr2 cap methyltransferase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1601859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8784210 Cmtr2 cap methyltransferase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1601859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 8784210 Cmtr2 cap methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1601859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784227 Klhl28 kelch like family member 28 gene DOID:13636 Fanconi anemia ISO RGD:1322718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 8784227 Klhl28 kelch like family member 28 gene DOID:630 genetic disease ISO RGD:1322718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784227 Klhl28 kelch like family member 28 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322718 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8784244 LOC102009660 protein HIRA gene DOID:0060041 autism spectrum disorder ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8784244 LOC102009660 protein HIRA gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1346310 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8784244 LOC102009660 protein HIRA gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1346310 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8784244 LOC102009660 protein HIRA gene DOID:0111996 immunodeficiency 51 ISO RGD:1346310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8784244 LOC102009660 protein HIRA gene DOID:10283 prostate cancer ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8784244 LOC102009660 protein HIRA gene DOID:1059 intellectual disability ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8784244 LOC102009660 protein HIRA gene DOID:11198 DiGeorge syndrome ISO RGD:1346310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8784244 LOC102009660 protein HIRA gene DOID:11372 megacolon ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8784244 LOC102009660 protein HIRA gene DOID:12583 velocardiofacial syndrome ISO RGD:1346310 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8784244 LOC102009660 protein HIRA gene DOID:12849 autistic disorder ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8784244 LOC102009660 protein HIRA gene DOID:1826 epilepsy ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8784244 LOC102009660 protein HIRA gene DOID:5419 schizophrenia ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8784244 LOC102009660 protein HIRA gene DOID:612 primary immunodeficiency disease ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8784244 LOC102009660 protein HIRA gene DOID:630 genetic disease ISO RGD:1346310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8784244 LOC102009660 protein HIRA gene DOID:6419 tetralogy of Fallot ISO RGD:1346310 D RGD:9068941 20231102 RGD mRNA,protein:decreased expression: myocardium : PMID:27748330|REF_RGD_ID:401851914 8784244 LOC102009660 protein HIRA gene DOID:9003139 Cardiac Fibrosis disease_progression ISO RGD:1556958 D RGD:9068941 20231102 RGD PMID:26935106|REF_RGD_ID:11354650 8784244 LOC102009660 protein HIRA gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8784244 LOC102009660 protein HIRA gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1346310 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8784277 Smyd3 SET and MYND domain containing 3 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1348508 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8784277 Smyd3 SET and MYND domain containing 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1348508 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8784277 Smyd3 SET and MYND domain containing 3 gene DOID:13938 amenorrhea ISO RGD:1348508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8784277 Smyd3 SET and MYND domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1348508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8784277 Smyd3 SET and MYND domain containing 3 gene DOID:630 genetic disease ISO RGD:1348508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784277 Smyd3 SET and MYND domain containing 3 gene DOID:670 amphetamine abuse ISO RGD:1348508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8784277 Smyd3 SET and MYND domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8784277 Smyd3 SET and MYND domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8784301 Prelp proline and arginine rich end leucine rich repeat protein gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8784301 Prelp proline and arginine rich end leucine rich repeat protein gene DOID:1540 parathyroid carcinoma ISO RGD:732559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8784301 Prelp proline and arginine rich end leucine rich repeat protein gene DOID:630 genetic disease ISO RGD:732559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784301 Prelp proline and arginine rich end leucine rich repeat protein gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8784301 Prelp proline and arginine rich end leucine rich repeat protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:0050568 spondylocostal dysostosis ISO RGD:735462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:0060249 scoliosis ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:735462 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:735462 D RGD:7240710 20180704 OMIM 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:735462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DLL3-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive PMID:10742114|PMID:12746394|PMID:12791036|PMID:15200511|PMID:15717203|PMID:17041936|PMID:18485326|PMID:25741868|PMID:2805381|PMID:28492532|PMID:29459493 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:11193 syndactyly ISO RGD:735462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:15717203|PMID:17041936|PMID:18485326|PMID:25741868|PMID:28492532|PMID:29459493 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:1934 dysostosis ISO RGD:735462 D RGD:9068941 20200609 RGD DNA:nonsense mutations, missense mutation PMID:10742114|REF_RGD_ID:1599775 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:2256 osteochondrodysplasia ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11146471 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:2340 craniosynostosis ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:3069 malignant astrocytoma ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:630 genetic disease ISO RGD:735462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:9005835 Congenital Abnormalities ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17849441 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:9009169 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA ISO RGD:735462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia PMID:25741868|PMID:28492532 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:9269 maple syrup urine disease ISO RGD:735462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8784308 Dll3 delta like canonical Notch ligand 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8784321 Epha5 EPH receptor A5 gene DOID:3070 high grade glioma ISO RGD:1605127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 8784321 Epha5 EPH receptor A5 gene DOID:3910 lung adenocarcinoma ISO RGD:1605127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:16140923 8784321 Epha5 EPH receptor A5 gene DOID:630 genetic disease ISO RGD:1605127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784321 Epha5 EPH receptor A5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0060290 blepharophimosis-intellectual disability syndrome, SBBYS type ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome PMID:32694869 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:22366787|PMID:22426308|PMID:22426309|PMID:25724810|PMID:25741868 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348339 D RGD:9068941 20200609 RGD PMID:17075831|REF_RGD_ID:2302527 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:10348 blepharophimosis ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1059 intellectual disability ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:22366787|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28628100|PMID:32694869 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:10907 microcephaly ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1790 malignant mesothelioma ISO RGD:1348339 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1348339 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability PMID:18414213|PMID:28512736 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:630 genetic disease ISO RGD:1348339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16738128|PMID:17576681|PMID:18414213|PMID:25169058|PMID:25169753|PMID:25533962|PMID:25741868|PMID:27399259|PMID:27479843|PMID:28191890|PMID:28424519|PMID:28492532|PMID:28512736|PMID:32694869|PMID:9536098 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1348339 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9001900 Arnold-Chiari Malformation ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arnold-Chiari malformation 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1348339 D RGD:7240710 20180130 OMIM 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1348339 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy | ClinVar Annotator: match by term: SMARCA2-related condition PMID:17576681|PMID:18414213|PMID:19606471|PMID:22366787|PMID:22426308|PMID:22822383|PMID:23752187|PMID:23929686|PMID:25169058|PMID:25169753|PMID:25326635|PMID:25326637|PMID:25741868|PMID:27099726|PMID:27399259|PMID:27479843|PMID:27665729|PMID:28333917|PMID:28424519|PMID:28492532|PMID:28824374|PMID:30459321|PMID:31785789|PMID:32694869|PMID:35887114|PMID:9536098 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1348339 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348339 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9004507 Hirsutism ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:22366787|PMID:25741868 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9008582 Developmental Disease ISO RGD:1348339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9008618 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ISO RGD:1348339 D RGD:7240710 20230215 OMIM 8784359 Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene DOID:9008618 BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ISO RGD:1348339 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Blepharophimosis-impaired intellectual development syndrome PMID:22366787|PMID:25533962|PMID:25741868|PMID:28191890|PMID:28492532|PMID:28628100|PMID:32694869 8784428 Rps14 ribosomal protein S14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8784428 Rps14 ribosomal protein S14 gene DOID:0090016 chromosome 5q deletion syndrome ISO RGD:731753 D RGD:7240710 20180130 OMIM 8784428 Rps14 ribosomal protein S14 gene DOID:1227 neutropenia ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8784428 Rps14 ribosomal protein S14 gene DOID:305 carcinoma ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8784428 Rps14 ribosomal protein S14 gene DOID:630 genetic disease ISO RGD:731753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784428 Rps14 ribosomal protein S14 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8784428 Rps14 ribosomal protein S14 gene DOID:9002669 Hypoxia ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 8784428 Rps14 ribosomal protein S14 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8784428 Rps14 ribosomal protein S14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731753 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8784437 Ppp2r1b protein phosphatase 2 scaffold subunit Abeta gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1312396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8784437 Ppp2r1b protein phosphatase 2 scaffold subunit Abeta gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1312396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8784437 Ppp2r1b protein phosphatase 2 scaffold subunit Abeta gene DOID:1059 intellectual disability ISO RGD:1312396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8784437 Ppp2r1b protein phosphatase 2 scaffold subunit Abeta gene DOID:12704 ataxia telangiectasia ISO RGD:1312396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8784437 Ppp2r1b protein phosphatase 2 scaffold subunit Abeta gene DOID:1324 lung cancer ISO RGD:1312396 D RGD:7240710 20240124 OMIM 8784437 Ppp2r1b protein phosphatase 2 scaffold subunit Abeta gene DOID:3905 lung carcinoma ISO RGD:1312396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11996789|PMID:9765152 8784437 Ppp2r1b protein phosphatase 2 scaffold subunit Abeta gene DOID:630 genetic disease ISO RGD:1312396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784437 Ppp2r1b protein phosphatase 2 scaffold subunit Abeta gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8784437 Ppp2r1b protein phosphatase 2 scaffold subunit Abeta gene DOID:9005172 Lung Neoplasms ISO RGD:1312396 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism 8784437 Ppp2r1b protein phosphatase 2 scaffold subunit Abeta gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1312396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8784459 Lrp1b LDL receptor related protein 1B gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 8784459 Lrp1b LDL receptor related protein 1B gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 8784459 Lrp1b LDL receptor related protein 1B gene DOID:10283 prostate cancer ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8784459 Lrp1b LDL receptor related protein 1B gene DOID:10534 stomach cancer ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:hypermethylation PMID:20095042|REF_RGD_ID:150429774 8784459 Lrp1b LDL receptor related protein 1B gene DOID:10652 Alzheimer's disease onset ISO RGD:1314618 D RGD:9068941 20220311 RGD mRNA:increased expression:hippocampus (mouse) PMID:23150673|REF_RGD_ID:151665140 8784459 Lrp1b LDL receptor related protein 1B gene DOID:1324 lung cancer severity ISO RGD:1314617 D RGD:9068941 20220224 RGD DNA:mutations: :multiple (human) PMID:33219256|REF_RGD_ID:150429789 8784459 Lrp1b LDL receptor related protein 1B gene DOID:162 cancer ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer 8784459 Lrp1b LDL receptor related protein 1B gene DOID:1909 melanoma ISO RGD:1314617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197931 8784459 Lrp1b LDL receptor related protein 1B gene DOID:1909 melanoma ameliorates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:31164891|REF_RGD_ID:150429775 8784459 Lrp1b LDL receptor related protein 1B gene DOID:219 colon cancer ISO RGD:1314617 D RGD:9068941 20211001 RGD human cells in a mouse moel PMID:28408316|REF_RGD_ID:150429777 8784459 Lrp1b LDL receptor related protein 1B gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1314617 D RGD:9068941 20211001 RGD associated with lung adenocarcinoma;DNA:mutations:multiple: (human) PMID:28522810|REF_RGD_ID:150429784 8784459 Lrp1b LDL receptor related protein 1B gene DOID:3121 gallbladder cancer ameliorates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:32898339|REF_RGD_ID:150429787 8784459 Lrp1b LDL receptor related protein 1B gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:31164891|REF_RGD_ID:150429775 8784459 Lrp1b LDL receptor related protein 1B gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:18948947|REF_RGD_ID:11064706 8784459 Lrp1b LDL receptor related protein 1B gene DOID:4450 renal cell carcinoma ISO RGD:1314617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8784459 Lrp1b LDL receptor related protein 1B gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:33014052|REF_RGD_ID:150429786 8784459 Lrp1b LDL receptor related protein 1B gene DOID:630 genetic disease ISO RGD:1314617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8784459 Lrp1b LDL receptor related protein 1B gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations:multiple: (human) PMID:33391418|REF_RGD_ID:150429785 8784459 Lrp1b LDL receptor related protein 1B gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD protein:increased expression:liver (human) PMID:33324588|REF_RGD_ID:150429776 8784459 Lrp1b LDL receptor related protein 1B gene DOID:9002189 High Myopia ISO RGD:1314617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8784459 Lrp1b LDL receptor related protein 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8784459 Lrp1b LDL receptor related protein 1B gene DOID:9256 colorectal cancer exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations, haplotype:multiple: (human) PMID:33836681|REF_RGD_ID:150429788 8784459 Lrp1b LDL receptor related protein 1B gene DOID:9256 colorectal cancer exacerbates ISO RGD:1314617 D RGD:9068941 20211001 RGD DNA:mutations, hpalotype:multiple (human) PMID:31693169|REF_RGD_ID:150429790 8784554 Glce glucuronic acid epimerase gene DOID:10763 hypertension ISO RGD:1607059 D RGD:9068941 20230805 RGD DNA:SNP: : rs3865014 (human) PMID:27699767|REF_RGD_ID:401717571 8784554 Glce glucuronic acid epimerase gene DOID:2717 Bloom syndrome ISO RGD:1607059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8784554 Glce glucuronic acid epimerase gene DOID:630 genetic disease ISO RGD:1607059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784554 Glce glucuronic acid epimerase gene DOID:6713 cerebrovascular disease ISO RGD:1607059 D RGD:9068941 20230805 RGD DNA:SNP: : rs3865014 (human) PMID:27699767|REF_RGD_ID:401717571 8784554 Glce glucuronic acid epimerase gene DOID:9256 colorectal cancer ISO RGD:1607059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8784573 Rnf34 ring finger protein 34 gene DOID:630 genetic disease ISO RGD:1352323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784573 Rnf34 ring finger protein 34 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352323 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16270526 8784587 Prickle2 prickle planar cell polarity protein 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8784587 Prickle2 prickle planar cell polarity protein 2 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1315504 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability 8784587 Prickle2 prickle planar cell polarity protein 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1315504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28166811|PMID:28492532|PMID:29358611|PMID:9536098 8784587 Prickle2 prickle planar cell polarity protein 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1315504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098 8784587 Prickle2 prickle planar cell polarity protein 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1315504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:21276947|PMID:25326635|PMID:25741868|PMID:26942291|PMID:26942292 8784587 Prickle2 prickle planar cell polarity protein 2 gene DOID:1826 epilepsy ISO RGD:1315504 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8784587 Prickle2 prickle planar cell polarity protein 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1315504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:28492532|PMID:29358611 8784587 Prickle2 prickle planar cell polarity protein 2 gene DOID:630 genetic disease ISO RGD:1315504 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8784587 Prickle2 prickle planar cell polarity protein 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21276947|PMID:23711981|PMID:25741868|PMID:26467025|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611 8784587 Prickle2 prickle planar cell polarity protein 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1315504 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy | ClinVar Annotator: match by term: myoclonic epilepsy PMID:28492532|PMID:29358611 8784587 Prickle2 prickle planar cell polarity protein 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1315504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8784587 Prickle2 prickle planar cell polarity protein 2 gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1315504 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098 8784605 Rem1 RRAD and GEM like GTPase 1 gene DOID:2843 long QT syndrome ISO RGD:1315248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8784605 Rem1 RRAD and GEM like GTPase 1 gene DOID:630 genetic disease ISO RGD:1315248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784639 Dusp14 dual specificity phosphatase 14 gene DOID:0060041 autism spectrum disorder ISO RGD:1316598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8784639 Dusp14 dual specificity phosphatase 14 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1316598 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 8784639 Dusp14 dual specificity phosphatase 14 gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:1316598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 8784639 Dusp14 dual specificity phosphatase 14 gene DOID:12849 autistic disorder ISO RGD:1316598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8784639 Dusp14 dual specificity phosphatase 14 gene DOID:5419 schizophrenia ISO RGD:1316598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8784639 Dusp14 dual specificity phosphatase 14 gene DOID:630 genetic disease ISO RGD:1316598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784639 Dusp14 dual specificity phosphatase 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8784657 Hmbs hydroxymethylbilane synthase gene DOID:0060017 CD3epsilon deficiency ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8784657 Hmbs hydroxymethylbilane synthase gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8784657 Hmbs hydroxymethylbilane synthase gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:18414213|PMID:25741868|PMID:28492532 8784657 Hmbs hydroxymethylbilane synthase gene DOID:0080690 RASopathy ISO RGD:733095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8784657 Hmbs hydroxymethylbilane synthase gene DOID:0081330 glycogen storage disease Ib ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8784657 Hmbs hydroxymethylbilane synthase gene DOID:0110651 long QT syndrome 10 ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8784657 Hmbs hydroxymethylbilane synthase gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:18414213|PMID:25741868|PMID:28492532 8784657 Hmbs hydroxymethylbilane synthase gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8784657 Hmbs hydroxymethylbilane synthase gene DOID:0111971 immunodeficiency 18 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8784657 Hmbs hydroxymethylbilane synthase gene DOID:0111972 immunodeficiency 19 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8784657 Hmbs hydroxymethylbilane synthase gene DOID:0111973 immunodeficiency 17 ISO RGD:733095 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8784657 Hmbs hydroxymethylbilane synthase gene DOID:10286 prostate carcinoma ISO RGD:733095 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.009) PMID:16211407|REF_RGD_ID:2301682 8784657 Hmbs hydroxymethylbilane synthase gene DOID:10923 sickle cell anemia ISO RGD:733095 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte PMID:900140|REF_RGD_ID:12904674 8784657 Hmbs hydroxymethylbilane synthase gene DOID:11054 urinary bladder cancer ISO RGD:733095 D RGD:9068941 20200609 RGD urinary bladder transitional cell carcinoma; mRNA:decreased expression:tumor:in matched malignant and non-malignant sample pairs (p = 0.008) PMID:16600798|REF_RGD_ID:2301681 8784657 Hmbs hydroxymethylbilane synthase gene DOID:13603 obstructive jaundice ISO RGD:2801 D RGD:9068941 20200609 RGD Protein:increased activity:liver (rat) PMID:3963818|REF_RGD_ID:4144803 8784657 Hmbs hydroxymethylbilane synthase gene DOID:2030 anxiety disorder ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anxiety PMID:25741868 8784657 Hmbs hydroxymethylbilane synthase gene DOID:2741 bilirubin metabolic disorder ISO RGD:2801 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:3963818|REF_RGD_ID:4144803 8784657 Hmbs hydroxymethylbilane synthase gene DOID:3133 acute porphyria ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:18414213|PMID:25741868|PMID:28492532 8784657 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:7240710 20180130 OMIM 8784657 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria ISO RGD:733095 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: HMBS-related condition | ClinVar Annotator: match by term: Porphyria, Swedish type PMID:10408772|PMID:10453740|PMID:10494093|PMID:10502788|PMID:10602775|PMID:10782018|PMID:10790212|PMID:10944860|PMID:11013452|PMID:11030413|PMID:11055586|PMID:11399210|PMID:11591889|PMID:11831862|PMID:11857754|PMID:12357456|PMID:12372055|PMID:12566739|PMID:12773194|PMID:1301948|PMID:1427766|PMID:1496994|PMID:14970743|PMID:15003823|PMID:15469427|PMID:15534187|PMID:15643298|PMID:1577472|PMID:16025832|PMID:16199547|PMID:16211556|PMID:16817012|PMID:1714233|PMID:17298217|PMID:17576681|PMID:18414213|PMID:18627369|PMID:19138865|PMID:19207107|PMID:19267997|PMID:19292878|PMID:19401933|PMID:19460837|PMID:1961762|PMID:19656452|PMID:19656453|PMID:19694018|PMID:2025226|PMID:20301372|PMID:20978940|PMID:2227955|PMID:2243128|PMID:2246851|PMID:2246852|PMID:22748422|PMID:23815679|PMID:24997713|PMID:25016127|PMID:25118551|PMID:25637381|PMID:25741868|PMID:26075277|PMID:26095755|PMID:26582343|PMID:27507172|PMID:27539938|PMID:27558376|PMID:27769855|PMID:27849156|PMID:27884173|PMID:2789372|PMID:28492532|PMID:2864531|PMID:29360981|PMID:30740734|PMID:30766957|PMID:31044425|PMID:31073229|PMID:31153822|PMID:31216405|PMID:32197664|PMID:32581362|PMID:33445488|PMID:34089223|PMID:34426522|PMID:35722412|PMID:6985467|PMID:7635464|PMID:7757070|PMID:7962538|PMID:8081367|PMID:8096492|PMID:8168829|PMID:8262514|PMID:8262523|PMID:8268934|PMID:8270254|PMID:8270256|PMID:8401516|PMID:8565205|PMID:9067752|PMID:9199558|PMID:9225970|PMID:9238757|PMID:9281416|PMID:9350165|PMID:9463797|PMID:9536098|PMID:9654202|PMID:9702975 8784657 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria severity ISO RGD:733096 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse) PMID:30615115|REF_RGD_ID:21079460 8784657 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria susceptibility ISO RGD:733095 D RGD:9068941 20200609 RGD DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human) PMID:9523350|REF_RGD_ID:19165353 8784657 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria treatment ISO RGD:733095 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:28990424|REF_RGD_ID:21079452 8784657 Hmbs hydroxymethylbilane synthase gene DOID:3890 acute intermittent porphyria treatment ISO RGD:733095 D RGD:9068941 20200609 RGD human mRNA in a mouse model PMID:30297912|REF_RGD_ID:21079456 8784657 Hmbs hydroxymethylbilane synthase gene DOID:4440 seminoma ISO RGD:733095 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor PMID:15823405|REF_RGD_ID:2301683 8784657 Hmbs hydroxymethylbilane synthase gene DOID:5212 congenital disorder of glycosylation ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:18414213|PMID:25741868|PMID:28492532 8784657 Hmbs hydroxymethylbilane synthase gene DOID:5419 schizophrenia ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8784657 Hmbs hydroxymethylbilane synthase gene DOID:630 genetic disease ISO RGD:733095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26795593|PMID:28492532 8784657 Hmbs hydroxymethylbilane synthase gene DOID:686 liver carcinoma sexual_dimorphism ISO RGD:2801 D RGD:9068941 20200609 RGD Protein:increased activity:liver (rat) PMID:1781034|REF_RGD_ID:25440495 8784657 Hmbs hydroxymethylbilane synthase gene DOID:9000808 Hypercholesterolemia ISO RGD:733095 D RGD:9068941 20200609 RGD associated with Porphyria, Acute Intermittent (MeSH:D017118); protein:reduced activity:erythrocytes PMID:2809566|REF_RGD_ID:2301684 8784657 Hmbs hydroxymethylbilane synthase gene DOID:9002558 Acute Intermittent Porphyria, Nonerythroid Variant ISO RGD:733095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant PMID:10343207|PMID:11071386|PMID:12406973|PMID:16199547|PMID:2511016|PMID:2563167|PMID:25923088|PMID:27539938|PMID:28492532|PMID:2915972|PMID:7757070|PMID:7962538|PMID:9199558|PMID:9860299 8784657 Hmbs hydroxymethylbilane synthase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8784657 Hmbs hydroxymethylbilane synthase gene DOID:9005584 Hepatic Porphyrias ISO RGD:2801 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:6721832|REF_RGD_ID:4144806 8784657 Hmbs hydroxymethylbilane synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2801 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:6688350|REF_RGD_ID:4144808 8784657 Hmbs hydroxymethylbilane synthase gene DOID:9005734 Abdominal Pain ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abdominal pain 8784657 Hmbs hydroxymethylbilane synthase gene DOID:9006618 Liver Metastasis ISO RGD:2801 D RGD:9068941 20200609 RGD associated with colon adenocarcinoma;protein:decreased activity:liver(rat) PMID:1386052|REF_RGD_ID:25440496 8784657 Hmbs hydroxymethylbilane synthase gene DOID:9007661 Dwarfism ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8784657 Hmbs hydroxymethylbilane synthase gene DOID:9008385 Vomiting ISO RGD:733095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vomiting PMID:25741868 8784682 Cmtm7 CKLF like MARVEL transmembrane domain containing 7 gene DOID:630 genetic disease ISO RGD:1313855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784714 Stard3 StAR related lipid transfer domain containing 3 gene DOID:630 genetic disease ISO RGD:1347857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784714 Stard3 StAR related lipid transfer domain containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347857 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:17592021 8784743 Ttl tubulin tyrosine ligase gene DOID:630 genetic disease ISO RGD:732112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784756 Cep20 centrosomal protein 20 gene DOID:12849 autistic disorder ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8784756 Cep20 centrosomal protein 20 gene DOID:1826 epilepsy ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8784756 Cep20 centrosomal protein 20 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:11439001|PMID:16541094 8784756 Cep20 centrosomal protein 20 gene DOID:5419 schizophrenia ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8784756 Cep20 centrosomal protein 20 gene DOID:630 genetic disease ISO RGD:1606173 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784756 Cep20 centrosomal protein 20 gene DOID:8445 intestinal volvulus ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8784756 Cep20 centrosomal protein 20 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1606173 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 8784756 Cep20 centrosomal protein 20 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1606173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 8784756 Cep20 centrosomal protein 20 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8784774 Rpl34 ribosomal protein L34 gene DOID:630 genetic disease ISO RGD:1319729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784783 Grk7 G protein-coupled receptor kinase 7 gene DOID:630 genetic disease ISO RGD:1347561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784792 Nnt nicotinamide nucleotide transhydrogenase gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1351355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634753 8784792 Nnt nicotinamide nucleotide transhydrogenase gene DOID:630 genetic disease ISO RGD:1351355 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8784792 Nnt nicotinamide nucleotide transhydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8784792 Nnt nicotinamide nucleotide transhydrogenase gene DOID:9005904 Glucocorticoid Deficiency 4 ISO RGD:1351355 D RGD:7240710 20180130 OMIM 8784792 Nnt nicotinamide nucleotide transhydrogenase gene DOID:9005904 Glucocorticoid Deficiency 4 ISO RGD:1351355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 4 | ClinVar Annotator: match by term: NNT-related condition PMID:22634753|PMID:23474776|PMID:25741868|PMID:26070314|PMID:26548497|PMID:27129361|PMID:28492532|PMID:33223529 8784792 Nnt nicotinamide nucleotide transhydrogenase gene DOID:9970 obesity ISO RGD:1587346 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius, soleus PMID:25761734|REF_RGD_ID:13513980 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:10603 glucose intolerance ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:1793 pancreatic cancer ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20101243|PMID:26098869 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:219 colon cancer ISO RGD:68499 D RGD:9068941 20220901 RGD RNA:increased expression:colon (human) PMID:28710032|REF_RGD_ID:153344627 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:2237 hepatitis treatment ISO RGD:68500 D RGD:9068941 20200609 RGD PMID:28406481|REF_RGD_ID:14401591 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:2843 long QT syndrome ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:3781 anovulation ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18628394 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:630 genetic disease ISO RGD:68499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:9003370 Dyslipidemias ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:9005369 Hepatomegaly ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29515023 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:9007456 Female Infertility ISO RGD:68499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17409375 8784824 Nr5a2 nuclear receptor subfamily 5 group A member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8784848 Kctd15 potassium channel tetramerization domain containing 15 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1313572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8784848 Kctd15 potassium channel tetramerization domain containing 15 gene DOID:630 genetic disease ISO RGD:1313572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784848 Kctd15 potassium channel tetramerization domain containing 15 gene DOID:9970 obesity ISO RGD:1313572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 8784868 Wfdc3 WAP four-disulfide core domain 3 gene DOID:2234 focal epilepsy ISO RGD:1313240 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8784868 Wfdc3 WAP four-disulfide core domain 3 gene DOID:630 genetic disease ISO RGD:1313240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784868 Wfdc3 WAP four-disulfide core domain 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P ISO RGD:1343012 D RGD:7240710 20180130 OMIM 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P ISO RGD:1343012 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2P PMID:14985381|PMID:16199547|PMID:17576681|PMID:20865121|PMID:22012984|PMID:22781092|PMID:24894446|PMID:25741868|PMID:26392352|PMID:26752306|PMID:26900582|PMID:27164712|PMID:27462242|PMID:27549087|PMID:27615052|PMID:27686364|PMID:27848944|PMID:28286897|PMID:28335037|PMID:28492532|PMID:28600779|PMID:29341362|PMID:29417091|PMID:29845787|PMID:3022865|PMID:30373780|PMID:30996334|PMID:31211173|PMID:31852984|PMID:32376792|PMID:33414056|PMID:33568173|PMID:34060689|PMID:34190362|PMID:35234685|PMID:35922214|PMID:9536098 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343012 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16199547|PMID:17576681|PMID:20865121|PMID:22012984|PMID:22781092|PMID:24894446|PMID:25741868|PMID:26752306|PMID:28286897|PMID:28335037|PMID:28492532|PMID:29341362|PMID:29417091|PMID:29845787|PMID:31211173|PMID:32376792|PMID:33414056|PMID:9536098 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:630 genetic disease ISO RGD:1343012 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20865121|PMID:22012984|PMID:25741868|PMID:26392352|PMID:26752306|PMID:27462242|PMID:28335037|PMID:28492532|PMID:28600779|PMID:29417091|PMID:30996334|PMID:32376792|PMID:33414056|PMID:34060689|PMID:9536098 8784901 Lrsam1 leucine rich repeat and sterile alpha motif containing 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1343012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22781092|PMID:27686364 8784938 Pp2d1 protein phosphatase 2C like domain containing 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1604736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8784945 Fut1 fucosyltransferase 1 (H blood group) gene DOID:630 genetic disease ISO RGD:737372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784950 G6pc3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0050590 severe congenital neutropenia ISO RGD:735418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia 8784950 G6pc3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:735418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 8784950 G6pc3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0080600 COVID-19 ISO RGD:735418 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8784950 G6pc3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0112136 severe congenital neutropenia 4 ISO RGD:735418 D RGD:7240710 20180130 OMIM 8784950 G6pc3 glucose-6-phosphatase catalytic subunit 3 gene DOID:0112136 severe congenital neutropenia 4 ISO RGD:735418 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar Annotator: match by term: G6PC3-related condition PMID:16199547|PMID:17576681|PMID:19011569|PMID:19118303|PMID:19775295|PMID:20220065|PMID:20616219|PMID:20717171|PMID:20799326|PMID:21285905|PMID:21385794|PMID:22050868|PMID:22469094|PMID:23171239|PMID:23180359|PMID:23298686|PMID:23441086|PMID:23454784|PMID:23758768|PMID:24033266|PMID:24105461|PMID:24549407|PMID:24750412|PMID:25284454|PMID:25326635|PMID:25391451|PMID:25491320|PMID:25492228|PMID:25741868|PMID:27571123|PMID:27577878|PMID:27611587|PMID:28492532|PMID:29163546|PMID:31019026|PMID:31157858|PMID:31321910|PMID:31564432|PMID:32623377|PMID:33259599|PMID:35525891|PMID:9536098 8784950 G6pc3 glucose-6-phosphatase catalytic subunit 3 gene DOID:612 primary immunodeficiency disease ISO RGD:735418 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:31157858 8784950 G6pc3 glucose-6-phosphatase catalytic subunit 3 gene DOID:630 genetic disease ISO RGD:735418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8784985 Usp4 ubiquitin specific peptidase 4 gene DOID:0060852 Pierson syndrome ISO RGD:1344173 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 8784985 Usp4 ubiquitin specific peptidase 4 gene DOID:630 genetic disease ISO RGD:1344173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8784985 Usp4 ubiquitin specific peptidase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1344173 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35841383 8784985 Usp4 ubiquitin specific peptidase 4 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8785010 Hnrnpf heterogeneous nuclear ribonucleoprotein F gene DOID:630 genetic disease ISO RGD:1349083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785010 Hnrnpf heterogeneous nuclear ribonucleoprotein F gene DOID:9432 renal glycosuria ISO RGD:731709 D RGD:9068941 20220825 MouseDO OMIM:233100 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1318851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318851 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:0080942 anauxetic dysplasia ISO RGD:1318851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1318851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:3068 glioblastoma ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20127710 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17233834 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:630 genetic disease ISO RGD:1318851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:9000965 Neoplasm Metastasis ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17233834 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:9002928 Colonic Neoplasms ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17443689 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318851 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20127710 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318851 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8785016 Reck reversion inducing cysteine rich protein with kazal motifs gene DOID:9870 galactosemia ISO RGD:1318851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8785040 Nptxr neuronal pentraxin receptor gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1607068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8785040 Nptxr neuronal pentraxin receptor gene DOID:2316 brain ischemia ISO RGD:628898 D RGD:9068941 20200609 RGD mRNA:decreased expression:neocortex PMID:12242102|REF_RGD_ID:1642302 8785040 Nptxr neuronal pentraxin receptor gene DOID:6000 congestive heart failure ISO RGD:628898 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 8785040 Nptxr neuronal pentraxin receptor gene DOID:630 genetic disease ISO RGD:1607068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785048 Cfap300 cilia and flagella associated protein 300 gene DOID:0050545 visceral heterotaxy ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 8785048 Cfap300 cilia and flagella associated protein 300 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 8785048 Cfap300 cilia and flagella associated protein 300 gene DOID:0111852 primary ciliary dyskinesia 38 ISO RGD:1605606 D RGD:7240710 20190315 OMIM 8785048 Cfap300 cilia and flagella associated protein 300 gene DOID:0111852 primary ciliary dyskinesia 38 ISO RGD:1605606 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 38 PMID:25741868|PMID:28492532|PMID:29727692|PMID:29727693 8785048 Cfap300 cilia and flagella associated protein 300 gene DOID:1059 intellectual disability ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8785048 Cfap300 cilia and flagella associated protein 300 gene DOID:12704 ataxia telangiectasia ISO RGD:1605606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8785048 Cfap300 cilia and flagella associated protein 300 gene DOID:758 situs inversus ISO RGD:1605606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 8785059 Cep350 centrosomal protein 350 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8785059 Cep350 centrosomal protein 350 gene DOID:1540 parathyroid carcinoma ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8785059 Cep350 centrosomal protein 350 gene DOID:630 genetic disease ISO RGD:1605105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785059 Cep350 centrosomal protein 350 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8785059 Cep350 centrosomal protein 350 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8785103 Vgll1 vestigial like family member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8785103 Vgll1 vestigial like family member 1 gene DOID:0060825 Christianson syndrome ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8785103 Vgll1 vestigial like family member 1 gene DOID:12849 autistic disorder ISO RGD:1352400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8785103 Vgll1 vestigial like family member 1 gene DOID:630 genetic disease ISO RGD:1352400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785103 Vgll1 vestigial like family member 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8785103 Vgll1 vestigial like family member 1 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1352400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8785103 Vgll1 vestigial like family member 1 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1352400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 8785126 CUNH3orf70 chromosome unknown C3orf70 homolog gene DOID:0111546 Currarino syndrome ISO RGD:1605238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8785126 CUNH3orf70 chromosome unknown C3orf70 homolog gene DOID:630 genetic disease ISO RGD:1605238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785126 CUNH3orf70 chromosome unknown C3orf70 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1562339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:0050868 hepatocellular adenoma ameliorates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26560698|REF_RGD_ID:11342977 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:10534 stomach cancer ameliorates ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23828905|REF_RGD_ID:151356998 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:731488 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:13208 background diabetic retinopathy ISO RGD:731488 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:1324 lung cancer ISO RGD:731488 D RGD:7240710 20240124 OMIM 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:1324 lung cancer exacerbates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26300007|REF_RGD_ID:11535492 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:1612 breast cancer ISO RGD:731488 D RGD:9068941 20220217 RGD PMID:10490831|REF_RGD_ID:151356925 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23533274|PMID:28393206|REF_RGD_ID:151356965|REF_RGD_ID:151356978 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:23533274|REF_RGD_ID:151356978 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:4467 clear cell renal cell carcinoma ameliorates ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23982215|REF_RGD_ID:151356974 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23982215|REF_RGD_ID:151356974 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:630 genetic disease ISO RGD:731488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26560698|REF_RGD_ID:11342977 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9000371 influenza A exacerbates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26241898|REF_RGD_ID:11055126 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9001642 Intestinal Polyps ISO RGD:10166 D RGD:9068941 20220224 RGD PMID:22451924|REF_RGD_ID:151356977 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9002245 Intestinal Neoplasms ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:23064365|REF_RGD_ID:151356997 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9002869 Schistosomiasis Mansoni exacerbates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:27487182|REF_RGD_ID:151356963 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9005172 Lung Neoplasms ISO RGD:731488 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620969 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731489 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9007102 Myocardial Ischemia ISO RGD:731488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9007702 Carcinogenesis ISO RGD:731488 D RGD:9068941 20220217 RGD PMID:15287022|REF_RGD_ID:151356924 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9007702 Carcinogenesis ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:23533274|REF_RGD_ID:151356978 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9009121 lung metastasis ameliorates ISO RGD:731488 D RGD:9068941 20220224 RGD associated with clear cell renal cell carcinoma PMID:23982215|REF_RGD_ID:151356974 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9256 colorectal cancer disease_progression ISO RGD:731488 D RGD:9068941 20220224 RGD PMID:23322277|PMID:29763718|REF_RGD_ID:151356994|REF_RGD_ID:151356995 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731489 D RGD:9068941 20220224 RGD protein:increased activity:serum: PMID:28724746|REF_RGD_ID:151356966 8785145 Map3k8 mitogen-activated protein kinase kinase kinase 8 gene DOID:9452 steatotic liver disease ameliorates ISO RGD:731489 D RGD:9068941 20220224 RGD PMID:26560698|REF_RGD_ID:11342977 8785176 Fbxl15 F-box and leucine rich repeat protein 15 gene DOID:630 genetic disease ISO RGD:1315065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785185 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 8785185 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:10283 prostate cancer ISO RGD:69113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8785185 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8785185 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:630 genetic disease ISO RGD:69113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785185 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28003426 8785185 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 8785185 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8785185 Pdk4 pyruvate dehydrogenase kinase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21182459|PMID:31809757 8785212 Mkrn2os MKRN2 opposite strand gene DOID:630 genetic disease ISO RGD:6481351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785220 F2r coagulation factor II thrombin receptor gene DOID:10591 pre-eclampsia ISO RGD:735960 D RGD:9068941 20200609 RGD PMID:12161502|REF_RGD_ID:1581033 8785220 F2r coagulation factor II thrombin receptor gene DOID:10763 hypertension ISO RGD:2586 D RGD:9068941 20200609 RGD PMID:9168786|REF_RGD_ID:1581034 8785220 F2r coagulation factor II thrombin receptor gene DOID:2237 hepatitis ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21907177 8785220 F2r coagulation factor II thrombin receptor gene DOID:2316 brain ischemia ISO RGD:2586 D RGD:9068941 20200609 RGD PMID:14705148|REF_RGD_ID:1302269 8785220 F2r coagulation factor II thrombin receptor gene DOID:4724 brain edema ISO RGD:2586 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:20541575|REF_RGD_ID:5490126 8785220 F2r coagulation factor II thrombin receptor gene DOID:5082 liver cirrhosis ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037076 8785220 F2r coagulation factor II thrombin receptor gene DOID:630 genetic disease ISO RGD:735960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785220 F2r coagulation factor II thrombin receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8785220 F2r coagulation factor II thrombin receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8785220 F2r coagulation factor II thrombin receptor gene DOID:9002170 Experimental Neoplasms ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374729 8785220 F2r coagulation factor II thrombin receptor gene DOID:9002211 Hyperalgesia ISO RGD:10556 D RGD:9068941 20200609 RGD PMID:12717003|REF_RGD_ID:7387270 8785220 F2r coagulation factor II thrombin receptor gene DOID:9002211 Hyperalgesia ISO RGD:2586 D RGD:9068941 20200609 RGD PMID:11877315|REF_RGD_ID:7387271 8785220 F2r coagulation factor II thrombin receptor gene DOID:9002211 Hyperalgesia severity ISO RGD:10556 D RGD:9068941 20200609 RGD PMID:19674841|REF_RGD_ID:7387269 8785220 F2r coagulation factor II thrombin receptor gene DOID:9002457 Experimental Arthritis severity ISO RGD:10556 D RGD:9068941 20200609 RGD PMID:19674841|REF_RGD_ID:7387269 8785220 F2r coagulation factor II thrombin receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8785220 F2r coagulation factor II thrombin receptor gene DOID:9005372 Inflammation ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 8785220 F2r coagulation factor II thrombin receptor gene DOID:9008114 Helicobacter Infections ISO RGD:10556 D RGD:9068941 20210115 RGD PMID:24866378|REF_RGD_ID:40924630 8785220 F2r coagulation factor II thrombin receptor gene DOID:9452 steatotic liver disease ISO RGD:735960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008134|PMID:21907177|PMID:22841818 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:0050851 glomerulosclerosis ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:20631980|REF_RGD_ID:6903882 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:0050851 glomerulosclerosis ISO RGD:2072 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:20042458|REF_RGD_ID:6903284 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:0050851 glomerulosclerosis ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12495295|REF_RGD_ID:6903859 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:0050938 breast lobular carcinoma ISO RGD:619558 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:8389152 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:619558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:0112053 non-syndromic X-linked intellectual disability 88 ISO RGD:619558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MRX88 PMID:12089445|PMID:12746399|PMID:14598163|PMID:14722754|PMID:16283672|PMID:18414213|PMID:23871722 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:1059 intellectual disability ISO RGD:619558 D RGD:9068941 20200609 RGD PMID:12089445|REF_RGD_ID:1300276 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:10763 hypertension ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:19680135|REF_RGD_ID:6903372 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:10763 hypertension ISO RGD:2072 D RGD:9068941 20200609 RGD associated with Sleep Apnea Syndromes PMID:21040717|REF_RGD_ID:5129169 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:10763 hypertension ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:11924718|REF_RGD_ID:6903865 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:10763 hypertension ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15710752 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:11049 meconium aspiration syndrome treatment ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:14605247|REF_RGD_ID:11039054 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:12849 autistic disorder ISO RGD:619558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:2072 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:22120037|REF_RGD_ID:8549486 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:619558 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle PMID:9815151|REF_RGD_ID:6903900 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:2072 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:21357516|REF_RGD_ID:5129175 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:1591 renovascular hypertension ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:18158356|PMID:21189405|REF_RGD_ID:6903867|REF_RGD_ID:6903868 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:1793 pancreatic cancer ISO RGD:619558 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11916627|REF_RGD_ID:2325641 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:2841 asthma ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:19080339|REF_RGD_ID:5147457 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:2921 glomerulonephritis ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:19139720|REF_RGD_ID:6903845 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:619558 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule PMID:15930094|REF_RGD_ID:6903851 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:polymorphism: :1818A>T (human) PMID:19194560|REF_RGD_ID:6903844 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:3770 pulmonary fibrosis ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:18500976|REF_RGD_ID:5147454 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:22113494|REF_RGD_ID:6903875 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:619558 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:21102591|REF_RGD_ID:6903280 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:5119 ovarian cyst ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:6000 congestive heart failure ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:18768398|REF_RGD_ID:6903846 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:6000 congestive heart failure ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:21963897|REF_RGD_ID:8549482 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:630 genetic disease ISO RGD:619558 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12089445|PMID:12746399|PMID:14598163|PMID:14722754|PMID:16283672|PMID:18414213|PMID:23871722|PMID:25741868|PMID:28492532 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:783 end stage renal disease ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:19212419|REF_RGD_ID:6903843 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:783 end stage renal disease ISO RGD:619558 D RGD:9068941 20200609 RGD associated with Vesico-Ureteral Reflux;DNA:SNP: :-1332A>G (human) PMID:20149750|REF_RGD_ID:6903283 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:784 chronic kidney disease ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:12089373|REF_RGD_ID:6903863 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9000352 Vascular System Injuries ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9000784 Fibrosis ISO RGD:10126 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:18327089|REF_RGD_ID:6903848 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9000784 Fibrosis ISO RGD:2072 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22184331|REF_RGD_ID:6903874 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:14982483|REF_RGD_ID:6903857 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:2072 D RGD:9068941 20230720 RGD associated with hypertension, periodontal disease PMID:33364953|REF_RGD_ID:329956421 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:2072 D RGD:9068941 20230817 RGD associated with maternal adenine induced chronic kidney disease PMID:32604820|REF_RGD_ID:401793718 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9001611 Urogenital Abnormalities ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:transition:intron PMID:16133060|REF_RGD_ID:6903850 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9001611 Urogenital Abnormalities ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:transition:intron:-1332A>G (human) PMID:15470205|REF_RGD_ID:6903853 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney PMID:18565281|REF_RGD_ID:6903847 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:21303825|REF_RGD_ID:5129179 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:22569153|REF_RGD_ID:6903872 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:22920387|REF_RGD_ID:6903870 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20467270 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8389152 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9005372 Inflammation ISO RGD:10126 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:15153562|REF_RGD_ID:6903855 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:12172324|REF_RGD_ID:6903861 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12089445 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9005930 Endotoxemia ISO RGD:2072 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16725227|REF_RGD_ID:6903849 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:619558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15587404|PMID:16025228 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9007096 Stroke ISO RGD:2072 D RGD:9068941 20200609 RGD PMID:19246705|REF_RGD_ID:6903905 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9007692 Insulin Resistance ISO RGD:2072 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion, neuron PMID:22357959|REF_RGD_ID:6903873 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:2|REF_RGD_ID:1303381 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:21900645|REF_RGD_ID:6892717 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2072 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:18463192|REF_RGD_ID:2313550 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9620 vesicoureteral reflux ISO RGD:619558 D RGD:9068941 20200609 RGD PMID:11819209|REF_RGD_ID:6903866 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9620 vesicoureteral reflux ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:transition:intron:-1332A>G (human) PMID:15470205|REF_RGD_ID:6903853 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9620 vesicoureteral reflux no_association ISO RGD:619558 D RGD:9068941 20200609 RGD DNA:transition:intron:-1332A>G (human) PMID:12187255|REF_RGD_ID:6903860 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9970 obesity ISO RGD:10126 D RGD:9068941 20200609 RGD PMID:15793237|REF_RGD_ID:2313554 8785225 Agtr2 angiotensin II receptor type 2 gene DOID:9993 hypoglycemia ISO RGD:619558 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :1675G>A (human) PMID:18328310|REF_RGD_ID:2313551 8785232 Rims2 regulating synaptic membrane exocytosis 2 gene DOID:0111590 Cohen syndrome ISO RGD:1351338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8785232 Rims2 regulating synaptic membrane exocytosis 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1351338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8785232 Rims2 regulating synaptic membrane exocytosis 2 gene DOID:630 genetic disease ISO RGD:1351338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785232 Rims2 regulating synaptic membrane exocytosis 2 gene DOID:9003893 CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ISO RGD:1351338 D RGD:7240710 20200910 OMIM 8785232 Rims2 regulating synaptic membrane exocytosis 2 gene DOID:9003893 CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ISO RGD:1351338 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder syndrome, congenital nonprogressive PMID:25741868|PMID:28492532|PMID:32470375 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1312289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:0080001 bone disease ISO RGD:1312289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228435 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:7240710 20180130 OMIM 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 ISO RGD:1312289 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like PMID:17576681|PMID:18513683|PMID:18985159|PMID:24033266|PMID:25007800|PMID:25741868|PMID:28492532|PMID:32295219|PMID:9536098 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:1059 intellectual disability ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:11830 myopia ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1312289 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:3144 cutis laxa ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868|PMID:28492532 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:419 scleroderma ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scleroderma PMID:25741868|PMID:28492532 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:4667 kyphosis ISO RGD:1312289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18985159 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:630 genetic disease ISO RGD:1312289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:65 connective tissue disease ISO RGD:1312289 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:9000793 Fine-Lubinsky Syndrome ISO RGD:1312289 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Fine-Lubinsky syndrome PMID:25741868 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1304695 D RGD:9068941 20200609 RGD protein:increased expression:liver, endoplasmic reticulum (rat) PMID:25767260|REF_RGD_ID:11553884 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:9003921 Zinc Deficiency ISO RGD:1304695 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, kidney (rat) PMID:20859692|REF_RGD_ID:11553849 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:9009007 Tooth Abnormalities ISO RGD:1312289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18985159|PMID:22228435 8785268 Slc39a13 solute carrier family 39 member 13 gene DOID:988 mitral valve prolapse ISO RGD:1312289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:25741868|PMID:28492532 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:0080460 developmental and epileptic encephalopathy 34 ISO RGD:731044 D RGD:7240710 20240308 OMIM 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:0080460 developmental and epileptic encephalopathy 34 ISO RGD:731044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 34 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34 PMID:16199547|PMID:17576681|PMID:24668262|PMID:24928908|PMID:25741868|PMID:26333769|PMID:26528127|PMID:27436767|PMID:27535533|PMID:28492532|PMID:30763027|PMID:31104500|PMID:31618474|PMID:9536098 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:0111315 idiopathic generalized epilepsy 14 ISO RGD:731044 D RGD:7240710 20240308 OMIM 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:0111315 idiopathic generalized epilepsy 14 ISO RGD:731044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14 PMID:24668262|PMID:24928908|PMID:25741868|PMID:26528127|PMID:27535533|PMID:28492532|PMID:31104500 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:10907 microcephaly ISO RGD:731044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:1824 status epilepticus ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20600929 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:1826 epilepsy ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12000122|PMID:18550034 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:1826 epilepsy ISO RGD:731045 D RGD:9068941 20220825 MouseDO 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:2234 focal epilepsy ISO RGD:731044 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19674083 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:480 movement disease ISO RGD:731044 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:25741868|PMID:28492532 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:630 genetic disease ISO RGD:731044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8785285 Slc12a5 solute carrier family 12 member 5 gene DOID:9002211 Hyperalgesia ISO RGD:731044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20086212 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0080690 RASopathy ISO RGD:1351082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0081329 glycogen storage disease I ISO RGD:1351082 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency | ClinVar Annotator: match by term: Glycogen storage disease, type I PMID:10482962|PMID:10923042|PMID:10940311|PMID:12444104|PMID:15669677|PMID:15757503|PMID:17994282|PMID:20578944|PMID:22899091|PMID:25741868|PMID:26913919|PMID:28492532|PMID:28685844|PMID:9758626 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351082 D RGD:7240710 20180130 OMIM 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351082 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GSD Ib | ClinVar Annotator: match by term: Glucose-6-phosphate transport defect | ClinVar Annotator: match by term: Glycogen storage disease Ib PMID:10026167|PMID:10323254|PMID:10482875|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10874322|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11949931|PMID:12373566|PMID:12409273|PMID:12444104|PMID:15059622|PMID:15260472|PMID:15669677|PMID:15757503|PMID:15906092|PMID:15953877|PMID:16199547|PMID:16435186|PMID:16716283|PMID:17307551|PMID:17576681|PMID:17994282|PMID:18337460|PMID:18437526|PMID:18835800|PMID:18996862|PMID:19454374|PMID:19579760|PMID:20301489|PMID:20386986|PMID:20578944|PMID:21575371|PMID:21629566|PMID:21659346|PMID:21983240|PMID:22899091|PMID:23810759|PMID:24033266|PMID:24385852|PMID:24565827|PMID:24646511|PMID:24745989|PMID:25308557|PMID:25741868|PMID:25881301|PMID:25982172|PMID:26913919|PMID:27066451|PMID:27848944|PMID:28224733|PMID:28224773|PMID:28394482|PMID:28492532|PMID:28685844|PMID:29119402|PMID:29146883|PMID:29549044|PMID:29581464|PMID:30290665|PMID:30951856|PMID:30956637|PMID:31508908|PMID:31617422|PMID:32300528|PMID:32374048|PMID:32772503|PMID:32884905|PMID:33083013|PMID:33728255|PMID:33731098|PMID:33964207|PMID:33977030|PMID:35834487|PMID:3728255|PMID:9428641|PMID:9536098|PMID:9598717|PMID:9675154|PMID:9758626|PMID:9781688 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0081331 glycogen storage disease Ic ISO RGD:1351082 D RGD:7240710 20180130 OMIM 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0081331 glycogen storage disease Ic ISO RGD:1351082 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GSD Ic PMID:10026167|PMID:10323254|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11949931|PMID:12373566|PMID:12444104|PMID:15059622|PMID:15669677|PMID:15757503|PMID:15906092|PMID:15953877|PMID:17307551|PMID:17576681|PMID:18337460|PMID:18835800|PMID:18996862|PMID:20301489|PMID:20578944|PMID:21575371|PMID:21629566|PMID:22899091|PMID:23810759|PMID:24033266|PMID:24385852|PMID:24565827|PMID:24646511|PMID:25741868|PMID:25982172|PMID:26913919|PMID:27066451|PMID:28224733|PMID:28224773|PMID:28394482|PMID:28492532|PMID:32374048|PMID:32884905|PMID:33728255|PMID:33964207|PMID:33977030|PMID:3728255|PMID:9428641|PMID:9536098|PMID:9598717|PMID:9675154|PMID:9758626|PMID:9781688 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1351082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:2747 glycogen storage disease ISO RGD:1351082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:10026167|PMID:10323254|PMID:10482962|PMID:10923042|PMID:10940311|PMID:15953877|PMID:20301489|PMID:22899091|PMID:24033266|PMID:24646511|PMID:25741868|PMID:26913919|PMID:28224773|PMID:28492532|PMID:9758626|PMID:9781688 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:2749 glycogen storage disease Ia ISO RGD:1351082 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Hepatorenal glycogenosis PMID:20578944|PMID:25741868|PMID:28492532 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1351082 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:32884905|PMID:33728255|PMID:33964207|PMID:3728255 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:5419 schizophrenia ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:630 genetic disease ISO RGD:1351082 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10026167|PMID:10323254|PMID:10482962|PMID:10923042|PMID:10940311|PMID:15953877|PMID:20301489|PMID:22899091|PMID:24033266|PMID:24646511|PMID:25741868|PMID:26913919|PMID:28224773|PMID:28492532|PMID:9758626|PMID:9781688 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:9002132 Congenital Disorder of Glycosylation Type IIw ISO RGD:1351082 D RGD:7240710 20210929 OMIM 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:9002132 Congenital Disorder of Glycosylation Type IIw ISO RGD:1351082 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIw PMID:10026167|PMID:10323254|PMID:10482962|PMID:10508514|PMID:10518030|PMID:10923042|PMID:10931421|PMID:10940311|PMID:11071391|PMID:11949931|PMID:12373566|PMID:12444104|PMID:15059622|PMID:15669677|PMID:15906092|PMID:15953877|PMID:17307551|PMID:17576681|PMID:18337460|PMID:18835800|PMID:20301489|PMID:21575371|PMID:21629566|PMID:22899091|PMID:23810759|PMID:24033266|PMID:24385852|PMID:24565827|PMID:24646511|PMID:25741868|PMID:25982172|PMID:26913919|PMID:27066451|PMID:28224733|PMID:28224773|PMID:28394482|PMID:28492532|PMID:32884905|PMID:33728255|PMID:33964207|PMID:3728255|PMID:9428641|PMID:9536098|PMID:9675154|PMID:9758626|PMID:9781688 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:9002258 Glucose-6-Phosphate Translocase Deficiency ISO RGD:1351082 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate translocase deficiency PMID:10508514|PMID:10940311|PMID:12444104|PMID:15906092|PMID:23810759|PMID:25741868|PMID:28394482|PMID:28492532|PMID:9781688 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:9005369 Hepatomegaly ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatomegaly PMID:10923042|PMID:12444104|PMID:15669677|PMID:17994282|PMID:26913919|PMID:28492532|PMID:28685844 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62066 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:10567346|REF_RGD_ID:1625641 8785323 Slc37a4 solute carrier family 37 member 4 gene DOID:9007661 Dwarfism ISO RGD:1351082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8785353 Acot9 acyl-CoA thioesterase 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8785353 Acot9 acyl-CoA thioesterase 9 gene DOID:12849 autistic disorder ISO RGD:1606811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8785353 Acot9 acyl-CoA thioesterase 9 gene DOID:630 genetic disease ISO RGD:1606811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785353 Acot9 acyl-CoA thioesterase 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8785353 Acot9 acyl-CoA thioesterase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8785400 Lto1 LTO1 maturation factor of ABCE1 gene DOID:1059 intellectual disability ISO RGD:1312190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8785400 Lto1 LTO1 maturation factor of ABCE1 gene DOID:630 genetic disease ISO RGD:1312190 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785400 Lto1 LTO1 maturation factor of ABCE1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1312190 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8785400 Lto1 LTO1 maturation factor of ABCE1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1312190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8785429 Abra actin binding Rho activating protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1603582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16243910 8785429 Abra actin binding Rho activating protein gene DOID:630 genetic disease ISO RGD:1603582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785435 Rnf6 ring finger protein 6 gene DOID:1749 squamous cell carcinoma ISO RGD:1314509 D RGD:9068941 20200609 RGD PMID:12154016|REF_RGD_ID:1599613 8785435 Rnf6 ring finger protein 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314509 D RGD:7240710 20240207 OMIM 8785435 Rnf6 ring finger protein 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic PMID:12154016 8785435 Rnf6 ring finger protein 6 gene DOID:630 genetic disease ISO RGD:1314509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785435 Rnf6 ring finger protein 6 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314509 D RGD:9068941 20220331 RGD PMID:30496760|REF_RGD_ID:151665757 8785435 Rnf6 ring finger protein 6 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1314509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8785435 Rnf6 ring finger protein 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8785449 Kbtbd3 kelch repeat and BTB domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1322060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8785449 Kbtbd3 kelch repeat and BTB domain containing 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1322060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8785449 Kbtbd3 kelch repeat and BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1322060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785449 Kbtbd3 kelch repeat and BTB domain containing 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8785472 Qrich2 glutamine rich 2 gene DOID:0111914 spermatogenic failure 35 ISO RGD:1604772 D RGD:7240710 20190315 OMIM 8785472 Qrich2 glutamine rich 2 gene DOID:0111914 spermatogenic failure 35 ISO RGD:1604772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 35 PMID:25741868|PMID:31110204|PMID:31292949 8785472 Qrich2 glutamine rich 2 gene DOID:630 genetic disease ISO RGD:1604772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785512 Bnip3l BCL2 interacting protein 3 like gene DOID:11714 gestational diabetes ISO RGD:621354 D RGD:9068941 20200609 RGD PMID:26512955|REF_RGD_ID:11564338 8785512 Bnip3l BCL2 interacting protein 3 like gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1549974 D RGD:9068941 20200609 RGD PMID:29440992|REF_RGD_ID:13506949 8785512 Bnip3l BCL2 interacting protein 3 like gene DOID:3525 middle cerebral artery infarction ISO RGD:621354 D RGD:9068941 20200609 RGD PMID:15902200|PMID:21029239|REF_RGD_ID:2314138|REF_RGD_ID:9068917 8785512 Bnip3l BCL2 interacting protein 3 like gene DOID:4989 pancreatitis ISO RGD:621354 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:14530762|REF_RGD_ID:7483579 8785512 Bnip3l BCL2 interacting protein 3 like gene DOID:630 genetic disease ISO RGD:1350585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785512 Bnip3l BCL2 interacting protein 3 like gene DOID:9000039 Spinal Cord Injuries ISO RGD:621354 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23637053|REF_RGD_ID:11564330 8785512 Bnip3l BCL2 interacting protein 3 like gene DOID:9002676 Cerebral Hemorrhage ISO RGD:621354 D RGD:9068941 20200609 RGD PMID:23771482|REF_RGD_ID:7483577 8785512 Bnip3l BCL2 interacting protein 3 like gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:621354 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:24072673|REF_RGD_ID:10402542 8785522 Clrn1 clarin 1 gene DOID:0050439 Usher syndrome ISO RGD:737108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:11524702|PMID:15521980|PMID:17407589|PMID:17893653|PMID:19753315|PMID:21675857|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:25472526|PMID:25741868|PMID:25743179|PMID:26338283|PMID:27460420|PMID:28224992|PMID:28492532|PMID:29545425|PMID:31097578|PMID:31836858|PMID:31963381|PMID:35481838|PMID:7407589 8785522 Clrn1 clarin 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:737108 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8785522 Clrn1 clarin 1 gene DOID:0110373 retinitis pigmentosa 61 ISO RGD:737108 D RGD:7240710 20180130 OMIM 8785522 Clrn1 clarin 1 gene DOID:0110373 retinitis pigmentosa 61 ISO RGD:737108 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 61 PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17407589|PMID:17576681|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:21310491|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25356976|PMID:25472526|PMID:25741868|PMID:25743179|PMID:26180195|PMID:26338283|PMID:27460420|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29545425|PMID:30311386|PMID:31097578|PMID:31836858|PMID:31960602|PMID:31963381|PMID:34906470|PMID:35481838|PMID:7407589|PMID:9536098 8785522 Clrn1 clarin 1 gene DOID:0110828 Usher syndrome type 3 ISO RGD:737108 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3 PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17407589|PMID:17576681|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:21675857|PMID:22135276|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25268133|PMID:25741868|PMID:25743179|PMID:26180195|PMID:26338283|PMID:27460420|PMID:27610647|PMID:28041643|PMID:28224992|PMID:28471114|PMID:28492532|PMID:29545425|PMID:30311386|PMID:31097578|PMID:31213501|PMID:31836858|PMID:31960602|PMID:31963381|PMID:34906470|PMID:35481838|PMID:7407589|PMID:9536098 8785522 Clrn1 clarin 1 gene DOID:0110841 Usher syndrome type 3A ISO RGD:737108 D RGD:7240710 20180130 OMIM 8785522 Clrn1 clarin 1 gene DOID:0110841 Usher syndrome type 3A ISO RGD:737108 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17407589|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:21310491|PMID:22135276|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25268133|PMID:25741868|PMID:25743179|PMID:26180195|PMID:26338283|PMID:26467025|PMID:27460420|PMID:27610647|PMID:28041643|PMID:28224992|PMID:28471114|PMID:28492532|PMID:29545425|PMID:30311386|PMID:31097578|PMID:31213501|PMID:31836858|PMID:31960602|PMID:31963381|PMID:34906470|PMID:35481838|PMID:7407589 8785522 Clrn1 clarin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:22787034|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:26180195|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709 8785522 Clrn1 clarin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737108 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:20717163|PMID:22681893|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:24596593|PMID:25741868|PMID:26180195|PMID:26338283|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709|PMID:34906470 8785522 Clrn1 clarin 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:737108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:28492532|PMID:30311386 8785522 Clrn1 clarin 1 gene DOID:630 genetic disease ISO RGD:737108 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8785522 Clrn1 clarin 1 gene DOID:8501 fundus dystrophy ISO RGD:737108 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11524702|PMID:12080385|PMID:12145752|PMID:14569126|PMID:15521980|PMID:16028794|PMID:17893653|PMID:18281613|PMID:19423712|PMID:19753315|PMID:21310491|PMID:22787034|PMID:22952768|PMID:23304067|PMID:24033266|PMID:24498627|PMID:25741868|PMID:26180195|PMID:26338283|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29545425|PMID:31836858|PMID:31963381|PMID:34906470|PMID:35481838 8785522 Clrn1 clarin 1 gene DOID:9004538 Hearing Loss ISO RGD:737108 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11524702|PMID:12145752|PMID:19753315|PMID:20717163|PMID:22681893|PMID:24033266|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386 8785537 Paip2b poly(A) binding protein interacting protein 2B gene DOID:543 dystonia ISO RGD:1605487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8785537 Paip2b poly(A) binding protein interacting protein 2B gene DOID:630 genetic disease ISO RGD:1605487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785537 Paip2b poly(A) binding protein interacting protein 2B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8785547 Mllt3 MLLT3 super elongation complex subunit gene DOID:630 genetic disease ISO RGD:737507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785547 Mllt3 MLLT3 super elongation complex subunit gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620940 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23077601|REF_RGD_ID:9686143 8785575 Phyhip phytanoyl-CoA 2-hydroxylase interacting protein gene DOID:630 genetic disease ISO RGD:1314035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785575 Phyhip phytanoyl-CoA 2-hydroxylase interacting protein gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1314035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8785587 Jrkl JRK like gene DOID:1059 intellectual disability ISO RGD:1319078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8785587 Jrkl JRK like gene DOID:12704 ataxia telangiectasia ISO RGD:1319078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8785587 Jrkl JRK like gene DOID:630 genetic disease ISO RGD:1319078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785592 Ctbp2 C-terminal binding protein 2 gene DOID:630 genetic disease ISO RGD:68535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785592 Ctbp2 C-terminal binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 8785592 Ctbp2 C-terminal binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:68535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28414304 8785592 Ctbp2 C-terminal binding protein 2 gene DOID:9007098 Pulmonary Atresia ISO RGD:68535 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia PMID:25741868 8785592 Ctbp2 C-terminal binding protein 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28414304 8785612 Wdr45 WD repeat domain 45 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:26173968 8785612 Wdr45 WD repeat domain 45 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8785612 Wdr45 WD repeat domain 45 gene DOID:0070100 oculocutaneous albinism type VII ISO RGD:1348509 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism 8785612 Wdr45 WD repeat domain 45 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8785612 Wdr45 WD repeat domain 45 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8785612 Wdr45 WD repeat domain 45 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1348509 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16199547|PMID:23176820|PMID:24368176|PMID:24621584|PMID:25741868|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28711740 8785612 Wdr45 WD repeat domain 45 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348509 D RGD:7240710 20180130 OMIM 8785612 Wdr45 WD repeat domain 45 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348509 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 PMID:16199547|PMID:17576681|PMID:22892189|PMID:23176820|PMID:23435086|PMID:23687123|PMID:24368176|PMID:24621584|PMID:24896178|PMID:25263061|PMID:25326635|PMID:25356899|PMID:25533962|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26609730|PMID:26633542|PMID:26790960|PMID:27030146|PMID:27159028|PMID:27652284|PMID:27681470|PMID:28191889|PMID:28492532|PMID:28554332|PMID:28711740|PMID:28878728|PMID:28932395|PMID:29082105|PMID:29171013|PMID:29389947|PMID:29445477|PMID:29681108|PMID:29981852|PMID:30542205|PMID:30612247|PMID:30713893|PMID:31332960|PMID:31487502|PMID:31665836|PMID:32307390|PMID:32382396|PMID:32387008|PMID:33037762|PMID:34906502|PMID:9536098 8785612 Wdr45 WD repeat domain 45 gene DOID:0111181 familial hemiplegic migraine 1 ISO RGD:1348509 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 PMID:25741868 8785612 Wdr45 WD repeat domain 45 gene DOID:0111443 optic atrophy 2 ISO RGD:1348509 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy 2 8785612 Wdr45 WD repeat domain 45 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8785612 Wdr45 WD repeat domain 45 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8785612 Wdr45 WD repeat domain 45 gene DOID:1059 intellectual disability ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23687123|PMID:25533962|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32387008 8785612 Wdr45 WD repeat domain 45 gene DOID:12849 autistic disorder ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311|PMID:32581362 8785612 Wdr45 WD repeat domain 45 gene DOID:1826 epilepsy ISO RGD:1348509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8785612 Wdr45 WD repeat domain 45 gene DOID:543 dystonia ISO RGD:1348509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8785612 Wdr45 WD repeat domain 45 gene DOID:630 genetic disease ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741887|PMID:25744623|PMID:26467025|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28191889|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29981852|PMID:31487502|PMID:32307390|PMID:32382396 8785612 Wdr45 WD repeat domain 45 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889|PMID:29942082 8785612 Wdr45 WD repeat domain 45 gene DOID:9005923 CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked PMID:23176820|PMID:24368176|PMID:24621584|PMID:25326635|PMID:25741868|PMID:25744623|PMID:26609730|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:29389947 8785612 Wdr45 WD repeat domain 45 gene DOID:9008086 Developmental Disabilities ISO RGD:1348509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23176820|PMID:23687123|PMID:24368176|PMID:24621584|PMID:25356899|PMID:25741868|PMID:25741886|PMID:25741887|PMID:25744623|PMID:26790960|PMID:27030146|PMID:27652284|PMID:28492532|PMID:28554332|PMID:28932395|PMID:29171013|PMID:29981852|PMID:31487502|PMID:32382396 8785612 Wdr45 WD repeat domain 45 gene DOID:9008582 Developmental Disease ISO RGD:1348509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8785612 Wdr45 WD repeat domain 45 gene DOID:9775 diastolic heart failure ISO RGD:1348509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8785636 Sprn shadow of prion protein gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1602790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8785636 Sprn shadow of prion protein gene DOID:630 genetic disease ISO RGD:1602790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785655 Klc3 kinesin light chain 3 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1604744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum 8785655 Klc3 kinesin light chain 3 gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1604744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 PMID:25741868 8785655 Klc3 kinesin light chain 3 gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1604744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group D PMID:25741868 8785655 Klc3 kinesin light chain 3 gene DOID:630 genetic disease ISO RGD:1604744 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8785691 Hykk hydroxylysine kinase gene DOID:2717 Bloom syndrome ISO RGD:1606741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8785691 Hykk hydroxylysine kinase gene DOID:630 genetic disease ISO RGD:1606741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785691 Hykk hydroxylysine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8785691 Hykk hydroxylysine kinase gene DOID:9256 colorectal cancer ISO RGD:1606741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8785708 Nfic nuclear factor I C gene DOID:630 genetic disease ISO RGD:69148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785708 Nfic nuclear factor I C gene DOID:9002304 Prostatic Neoplasms ISO RGD:69148 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8785708 Nfic nuclear factor I C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8785719 Gtpbp2 GTP binding protein 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1314943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8785719 Gtpbp2 GTP binding protein 2 gene DOID:13580 cholestasis ISO RGD:1314943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8785719 Gtpbp2 GTP binding protein 2 gene DOID:630 genetic disease ISO RGD:1314943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8785719 Gtpbp2 GTP binding protein 2 gene DOID:9005019 JABERI-ELAHI SYNDROME ISO RGD:1314943 D RGD:7240710 20190315 OMIM 8785719 Gtpbp2 GTP binding protein 2 gene DOID:9005019 JABERI-ELAHI SYNDROME ISO RGD:1314943 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Jaberi-Elahi syndrome PMID:25741868|PMID:29449720|PMID:30790272|PMID:32860008 8785719 Gtpbp2 GTP binding protein 2 gene DOID:905 Zellweger syndrome ISO RGD:1314943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8785742 Brs3 bombesin receptor subtype 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8785742 Brs3 bombesin receptor subtype 3 gene DOID:0060825 Christianson syndrome ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8785742 Brs3 bombesin receptor subtype 3 gene DOID:10763 hypertension ISO RGD:733513 D RGD:9068941 20200609 RGD PMID:9367152|REF_RGD_ID:734661 8785742 Brs3 bombesin receptor subtype 3 gene DOID:12849 autistic disorder ISO RGD:733512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8785742 Brs3 bombesin receptor subtype 3 gene DOID:630 genetic disease ISO RGD:733512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785742 Brs3 bombesin receptor subtype 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8785742 Brs3 bombesin receptor subtype 3 gene DOID:9002916 Hyperphagia ISO RGD:733513 D RGD:9068941 20200609 RGD PMID:9367152|REF_RGD_ID:734661 8785742 Brs3 bombesin receptor subtype 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:733512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8785742 Brs3 bombesin receptor subtype 3 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:733512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:26935837 8785742 Brs3 bombesin receptor subtype 3 gene DOID:9970 obesity ISO RGD:733513 D RGD:9068941 20200609 RGD PMID:9367152|REF_RGD_ID:734661 8785749 Csnk1d casein kinase 1 delta gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:733311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8785749 Csnk1d casein kinase 1 delta gene DOID:0110012 advanced sleep phase syndrome 2 ISO RGD:733311 D RGD:7240710 20180130 OMIM 8785749 Csnk1d casein kinase 1 delta gene DOID:0110012 advanced sleep phase syndrome 2 ISO RGD:733311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 2 PMID:15800623|PMID:23636092 8785749 Csnk1d casein kinase 1 delta gene DOID:10652 Alzheimer's disease ISO RGD:733311 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:10514399|REF_RGD_ID:10395229 8785749 Csnk1d casein kinase 1 delta gene DOID:10652 Alzheimer's disease severity ISO RGD:733311 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:10814741|REF_RGD_ID:10395230 8785749 Csnk1d casein kinase 1 delta gene DOID:630 genetic disease ISO RGD:733311 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785784 Znf436 zinc finger protein 436 gene DOID:630 genetic disease ISO RGD:1321577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785784 Znf436 zinc finger protein 436 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1321577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8785792 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1347426 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8785792 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0080600 COVID-19 ISO RGD:1347426 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8785792 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0080600 COVID-19 ISO RGD:1347426 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8785792 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1347426 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8785792 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:303 substance-related disorder ISO RGD:1347426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8785792 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:630 genetic disease ISO RGD:1347426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785792 Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1347426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 8785802 Rom1 retinal outer segment membrane protein 1 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:20335603|PMID:28492532 8785802 Rom1 retinal outer segment membrane protein 1 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:1314474 D RGD:7240710 20180130 OMIM 8785802 Rom1 retinal outer segment membrane protein 1 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic PMID:16799052|PMID:25741868|PMID:28492532|PMID:7904211|PMID:8202715 8785802 Rom1 retinal outer segment membrane protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1314474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8785802 Rom1 retinal outer segment membrane protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261 8785802 Rom1 retinal outer segment membrane protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1314474 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:33688152|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261 8785802 Rom1 retinal outer segment membrane protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1314474 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:33688152|PMID:35353811|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261 8785802 Rom1 retinal outer segment membrane protein 1 gene DOID:1059 intellectual disability ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8785802 Rom1 retinal outer segment membrane protein 1 gene DOID:4448 macular degeneration ISO RGD:1314474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28492532|PMID:30718709 8785802 Rom1 retinal outer segment membrane protein 1 gene DOID:630 genetic disease ISO RGD:1314474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8785802 Rom1 retinal outer segment membrane protein 1 gene DOID:8466 retinal degeneration ISO RGD:1314475 D RGD:9068941 20200609 RGD PMID:10802659|REF_RGD_ID:8553197 8785802 Rom1 retinal outer segment membrane protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1314474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:30718709|PMID:8595413 8785810 Otop2 otopetrin 2 gene DOID:630 genetic disease ISO RGD:1312497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785843 Rgs1 regulator of G protein signaling 1 gene DOID:0080600 COVID-19 ISO RGD:735445 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8785843 Rgs1 regulator of G protein signaling 1 gene DOID:1540 parathyroid carcinoma ISO RGD:735445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8785843 Rgs1 regulator of G protein signaling 1 gene DOID:3042 allergic contact dermatitis ISO RGD:735445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8785843 Rgs1 regulator of G protein signaling 1 gene DOID:3347 osteosarcoma ISO RGD:735445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 8785843 Rgs1 regulator of G protein signaling 1 gene DOID:37 skin disease ISO RGD:735445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8785843 Rgs1 regulator of G protein signaling 1 gene DOID:630 genetic disease ISO RGD:735445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785843 Rgs1 regulator of G protein signaling 1 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:735445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 8785843 Rgs1 regulator of G protein signaling 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:735445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8785843 Rgs1 regulator of G protein signaling 1 gene DOID:9008331 Tendon Injuries treatment ISO RGD:3561 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 8785843 Rgs1 regulator of G protein signaling 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8785852 Dnajb1 DnaJ heat shock protein family (Hsp40) member B1 gene DOID:630 genetic disease ISO RGD:1312336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785864 Ms4a12 membrane spanning 4-domains A12 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1316189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8785864 Ms4a12 membrane spanning 4-domains A12 gene DOID:1059 intellectual disability ISO RGD:1316189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8785864 Ms4a12 membrane spanning 4-domains A12 gene DOID:630 genetic disease ISO RGD:1316189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785865 Rasd1 ras related dexamethasone induced 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:731548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8785865 Rasd1 ras related dexamethasone induced 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:731548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8785865 Rasd1 ras related dexamethasone induced 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:731548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8785865 Rasd1 ras related dexamethasone induced 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:731548 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8785865 Rasd1 ras related dexamethasone induced 1 gene DOID:12849 autistic disorder ISO RGD:731548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8785865 Rasd1 ras related dexamethasone induced 1 gene DOID:630 genetic disease ISO RGD:731548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785865 Rasd1 ras related dexamethasone induced 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8785871 Ppfia1 PTPRF interacting protein alpha 1 gene DOID:1059 intellectual disability ISO RGD:1319111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8785871 Ppfia1 PTPRF interacting protein alpha 1 gene DOID:630 genetic disease ISO RGD:1319111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785913 Slitrk4 SLIT and NTRK like family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8785913 Slitrk4 SLIT and NTRK like family member 4 gene DOID:0080600 COVID-19 ISO RGD:1348582 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8785913 Slitrk4 SLIT and NTRK like family member 4 gene DOID:12849 autistic disorder ISO RGD:1348582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8785913 Slitrk4 SLIT and NTRK like family member 4 gene DOID:630 genetic disease ISO RGD:1348582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785922 Adam29 ADAM metallopeptidase domain 29 gene DOID:630 genetic disease ISO RGD:1342886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785922 Adam29 ADAM metallopeptidase domain 29 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8785931 Pml PML nuclear body scaffold gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8785931 Pml PML nuclear body scaffold gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1345145 D RGD:9068941 20210205 RGD human PML/RARA gene fusion in a mouse model PMID:9122233|REF_RGD_ID:41404695 8785931 Pml PML nuclear body scaffold gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1345145 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:10742073|PMID:14706140|PMID:16788101|PMID:16835227|PMID:16891316|PMID:16935935|PMID:17294898|PMID:17649720|PMID:19029980|PMID:19035177|PMID:19884644|PMID:19887701|PMID:21345080|PMID:21613260|PMID:22213200|PMID:23208507|PMID:23734343|PMID:26285909|PMID:26728337|PMID:32882258|PMID:32929351|PMID:8616088 8785931 Pml PML nuclear body scaffold gene DOID:10591 pre-eclampsia ISO RGD:1345145 D RGD:9068941 20210205 RGD mRNA:decreased expression:placenta (human) PMID:20228380|REF_RGD_ID:41404689 8785931 Pml PML nuclear body scaffold gene DOID:1324 lung cancer ameliorates ISO RGD:1557220 D RGD:9068941 20210205 RGD PMID:25486572|REF_RGD_ID:41404692 8785931 Pml PML nuclear body scaffold gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8785931 Pml PML nuclear body scaffold gene DOID:2717 Bloom syndrome ISO RGD:1345145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8785931 Pml PML nuclear body scaffold gene DOID:3007 breast ductal carcinoma ISO RGD:1345145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8785931 Pml PML nuclear body scaffold gene DOID:3068 glioblastoma ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23440206 8785931 Pml PML nuclear body scaffold gene DOID:4159 skin cancer severity ISO RGD:1345145 D RGD:9068941 20210205 RGD human gene in a mouse model PMID:19058256|REF_RGD_ID:41404688 8785931 Pml PML nuclear body scaffold gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1345145 D RGD:9068941 20210205 RGD protein:decreased expression:kidney (human) PMID:25293974|REF_RGD_ID:41404694 8785931 Pml PML nuclear body scaffold gene DOID:5408 Paget's disease of bone ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 8785931 Pml PML nuclear body scaffold gene DOID:5419 schizophrenia ISO RGD:1345145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8785931 Pml PML nuclear body scaffold gene DOID:630 genetic disease ISO RGD:1345145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785931 Pml PML nuclear body scaffold gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1557220 D RGD:9068941 20210205 RGD mRNA:increased expression:liver (mouse) PMID:26118777|REF_RGD_ID:41404690 8785931 Pml PML nuclear body scaffold gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345145 D RGD:9068941 20210205 RGD protein:increased expression:liver (human) PMID:11511788|REF_RGD_ID:41404685 8785931 Pml PML nuclear body scaffold gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1557220 D RGD:9068941 20210205 RGD associated with hepatitis C PMID:31144474|REF_RGD_ID:41404687 8785931 Pml PML nuclear body scaffold gene DOID:9000645 Rotavirus Infections ISO RGD:1345145 D RGD:9068941 20210205 RGD associated with gastroenteritis;mRNA:decreased expression:blood (human) PMID:31677607|REF_RGD_ID:41404693 8785931 Pml PML nuclear body scaffold gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29335545 8785931 Pml PML nuclear body scaffold gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20377131 8785931 Pml PML nuclear body scaffold gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29335545 8785931 Pml PML nuclear body scaffold gene DOID:9003370 Dyslipidemias ISO RGD:1345145 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 8785931 Pml PML nuclear body scaffold gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1345145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19884644 8785931 Pml PML nuclear body scaffold gene DOID:9256 colorectal cancer ISO RGD:1345145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8785931 Pml PML nuclear body scaffold gene DOID:9538 multiple myeloma severity ISO RGD:1345145 D RGD:9068941 20210205 RGD protein:increased expression:bone marrow (human) PMID:22906876|REF_RGD_ID:41404686 8785958 Wdr13 WD repeat domain 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8785958 Wdr13 WD repeat domain 13 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8785958 Wdr13 WD repeat domain 13 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8785958 Wdr13 WD repeat domain 13 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8785958 Wdr13 WD repeat domain 13 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8785958 Wdr13 WD repeat domain 13 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347566 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8785958 Wdr13 WD repeat domain 13 gene DOID:10485 esophageal atresia ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8785958 Wdr13 WD repeat domain 13 gene DOID:12849 autistic disorder ISO RGD:1347566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8785958 Wdr13 WD repeat domain 13 gene DOID:630 genetic disease ISO RGD:1347566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785975 Txndc12 thioredoxin domain containing 12 gene DOID:630 genetic disease ISO RGD:1606291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785989 Pabpc4 poly(A) binding protein cytoplasmic 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8785989 Pabpc4 poly(A) binding protein cytoplasmic 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1312792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8785989 Pabpc4 poly(A) binding protein cytoplasmic 4 gene DOID:630 genetic disease ISO RGD:1312792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8785989 Pabpc4 poly(A) binding protein cytoplasmic 4 gene DOID:9006205 Animal Disease Models ISO RGD:1312792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8786033 Cops7a COP9 signalosome subunit 7A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1320761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8786033 Cops7a COP9 signalosome subunit 7A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1320761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8786033 Cops7a COP9 signalosome subunit 7A gene DOID:0111621 Temtamy syndrome ISO RGD:1320761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8786033 Cops7a COP9 signalosome subunit 7A gene DOID:630 genetic disease ISO RGD:1320761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786033 Cops7a COP9 signalosome subunit 7A gene DOID:9000217 Stomach Neoplasms ISO RGD:1320761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8786033 Cops7a COP9 signalosome subunit 7A gene DOID:9000918 Disease Progression ISO RGD:1320761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8786033 Cops7a COP9 signalosome subunit 7A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1320761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8786056 Sclt1 sodium channel and clathrin linker 1 gene DOID:0060340 ciliopathy ISO RGD:1617550 D RGD:9068941 20220825 MouseDO 8786056 Sclt1 sodium channel and clathrin linker 1 gene DOID:0060382 orofaciodigital syndrome IX ISO RGD:731355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome IX 8786056 Sclt1 sodium channel and clathrin linker 1 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:731355 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:25741868|PMID:28492532 8786056 Sclt1 sodium channel and clathrin linker 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1617550 D RGD:9068941 20220825 MouseDO OMIM:263200 8786056 Sclt1 sodium channel and clathrin linker 1 gene DOID:11782 astigmatism ISO RGD:731355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astigmatism 8786056 Sclt1 sodium channel and clathrin linker 1 gene DOID:630 genetic disease ISO RGD:731355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8786056 Sclt1 sodium channel and clathrin linker 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:731355 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:25741868|PMID:28492532 8786096 Cenpp centromere protein P gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1603809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 8786096 Cenpp centromere protein P gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1603809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 8786096 Cenpp centromere protein P gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1603809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 8786096 Cenpp centromere protein P gene DOID:630 genetic disease ISO RGD:1603809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786114 Hexb hexosaminidase subunit beta gene DOID:0080600 COVID-19 ISO RGD:1316898 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8786114 Hexb hexosaminidase subunit beta gene DOID:0110838 Usher syndrome type 2A ISO RGD:1316898 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA PMID:18484607|PMID:18758829|PMID:19823769|PMID:19881469|PMID:20301515|PMID:21483992|PMID:23010210|PMID:23046579|PMID:24613245|PMID:25741868|PMID:26582265|PMID:28492532|PMID:29448188|PMID:7550345|PMID:8162015 8786114 Hexb hexosaminidase subunit beta gene DOID:1059 intellectual disability ISO RGD:1316898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8786114 Hexb hexosaminidase subunit beta gene DOID:12377 spinal muscular atrophy ISO RGD:1316898 D RGD:9068941 20200609 RGD DNA,protein:point_mutations:CDS:compound heterozygosity for A619G/I207V and A1367C/Y456S PMID:1720305|REF_RGD_ID:1599424 8786114 Hexb hexosaminidase subunit beta gene DOID:3021 acute kidney failure ISO RGD:1316898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22005293 8786114 Hexb hexosaminidase subunit beta gene DOID:3323 Sandhoff disease ISO RGD:1316898 D RGD:7240710 20180130 OMIM 8786114 Hexb hexosaminidase subunit beta gene DOID:3323 Sandhoff disease ISO RGD:1316898 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease PMID:10724|PMID:10982028|PMID:11329289|PMID:11897243|PMID:12027830|PMID:12166653|PMID:12706724|PMID:1386607|PMID:1390948|PMID:14724290|PMID:1487253|PMID:1531140|PMID:1532910|PMID:16169011|PMID:16199547|PMID:17015493|PMID:1720305|PMID:1723749|PMID:17237499|PMID:17576681|PMID:18484607|PMID:18758829|PMID:19595619|PMID:1975561|PMID:19763152|PMID:19823769|PMID:19881469|PMID:19898952|PMID:20301515|PMID:20307669|PMID:20798201|PMID:20926324|PMID:21150067|PMID:2139865|PMID:2147027|PMID:2147031|PMID:21483992|PMID:21567908|PMID:2170400|PMID:22191674|PMID:22406018|PMID:22789865|PMID:22848519|PMID:23010210|PMID:23046579|PMID:23113155|PMID:23127958|PMID:23158871|PMID:23418865|PMID:23759947|PMID:24022928|PMID:24033266|PMID:24082139|PMID:24263030|PMID:24356898|PMID:24461908|PMID:24503148|PMID:24613245|PMID:24915922|PMID:2522450|PMID:25525159|PMID:25640679|PMID:25736553|PMID:25741868|PMID:26582265|PMID:27021291|PMID:27142713|PMID:27435318|PMID:27629047|PMID:27682710|PMID:27697305|PMID:28281504|PMID:28476546|PMID:28492532|PMID:28895707|PMID:2921040|PMID:29448188|PMID:29451896|PMID:2948136|PMID:2973515|PMID:30065954|PMID:30075786|PMID:3014997|PMID:30548430|PMID:31319225|PMID:31367523|PMID:3156493|PMID:31589614|PMID:31852446|PMID:31974414|PMID:31995250|PMID:32036093|PMID:32860008|PMID:33176815|PMID:33407268|PMID:33673364|PMID:33742171|PMID:33824075|PMID:34210542|PMID:34226107|PMID:34856081|PMID:35186388|PMID:35711818|PMID:36407556|PMID:36628841|PMID:571983|PMID:7550345|PMID:7557963|PMID:7633435|PMID:8045559|PMID:8076944|PMID:8106452|PMID:8162015|PMID:8357844|PMID:8593535|PMID:868875|PMID:8950198|PMID:9401004|PMID:9475608|PMID:9536098|PMID:9562328|PMID:9694901 8786114 Hexb hexosaminidase subunit beta gene DOID:630 genetic disease ISO RGD:1316898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10724|PMID:17015493|PMID:19595619|PMID:20798201|PMID:2147031|PMID:2170400|PMID:22789865|PMID:24461908|PMID:24915922|PMID:2522450|PMID:25741868|PMID:27021291|PMID:28492532 8786114 Hexb hexosaminidase subunit beta gene DOID:9002051 Sandhoff Disease, Juvenile Type ISO RGD:1316898 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sandhoff disease, juvenile type PMID:10724|PMID:1386607|PMID:1531140|PMID:17015493|PMID:1720305|PMID:17237499|PMID:20798201|PMID:21150067|PMID:2147027|PMID:2147031|PMID:2170400|PMID:22789865|PMID:23127958|PMID:24263030|PMID:24915922|PMID:2522450|PMID:25736553|PMID:25741868|PMID:27021291|PMID:27142713|PMID:28492532|PMID:29448188|PMID:3014997|PMID:7557963|PMID:8106452 8786114 Hexb hexosaminidase subunit beta gene DOID:9003926 Sandhoff Disease, Infantile Type ISO RGD:1316898 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Sandhoff disease, infantile type PMID:10982028|PMID:18484607|PMID:18758829|PMID:19823769|PMID:19881469|PMID:20301515|PMID:21483992|PMID:23010210|PMID:23046579|PMID:24613245|PMID:25741868|PMID:26582265|PMID:28492532|PMID:29448188|PMID:7550345|PMID:7633435|PMID:8045559|PMID:8162015|PMID:9888387 8786114 Hexb hexosaminidase subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8786114 Hexb hexosaminidase subunit beta gene DOID:9008015 Sandhoff Disease, Adult Type ISO RGD:1316898 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sandhoff disease, adult type PMID:12027830|PMID:12166653|PMID:1386607|PMID:1531140|PMID:17237499|PMID:17251047|PMID:20798201|PMID:20926324|PMID:21150067|PMID:2147027|PMID:22789865|PMID:23010210|PMID:23127958|PMID:23759947|PMID:24263030|PMID:25736553|PMID:25741868|PMID:28492532|PMID:29448188|PMID:2948136|PMID:571983|PMID:7557963|PMID:8357844|PMID:8950198|PMID:9562328 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:1344696 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:25741868|PMID:28492532 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 ISO RGD:1344696 D RGD:7240710 20201111 OMIM 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 ISO RGD:1344696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 PMID:11013136|PMID:11118289|PMID:16520371|PMID:17182746|PMID:19295170|PMID:23345593|PMID:23878101|PMID:24403053|PMID:25741868|PMID:28492532|PMID:29381136 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:0080719 congenital myopathy 6 ISO RGD:1344696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:114 heart disease ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:3652 Leigh disease ISO RGD:1344696 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:33340101|PMID:9536098 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1344696 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:33340101|PMID:9536098 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:409 liver disease ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:1344696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:700 mitochondrial metabolism disease ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17182746 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1344696 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:9004590 Acute Liver Failure ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864674 8786131 LOC102030058 protein SCO1 homolog, mitochondrial gene DOID:936 brain disease ISO RGD:1344696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23345593 8786141 Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1315543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:24394663 8786141 Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:630 genetic disease ISO RGD:1315543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786141 Tal1 TAL bHLH transcription factor 1, erythroid differentiation factor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1315543 D RGD:7240710 20230505 OMIM 8786150 Map10 microtubule associated protein 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1607026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8786150 Map10 microtubule associated protein 10 gene DOID:630 genetic disease ISO RGD:1607026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786150 Map10 microtubule associated protein 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8786163 Klk8 kallikrein related peptidase 8 gene DOID:630 genetic disease ISO RGD:1314360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786173 Btf3 basic transcription factor 3 gene DOID:630 genetic disease ISO RGD:1317667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786173 Btf3 basic transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:0060041 autism spectrum disorder ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1343765 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1343765 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:0111996 immunodeficiency 51 ISO RGD:1343765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:1059 intellectual disability ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:11198 DiGeorge syndrome ISO RGD:1343765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:11372 megacolon ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:12583 velocardiofacial syndrome ISO RGD:1343765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:12849 autistic disorder ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:1826 epilepsy ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:5419 schizophrenia ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:612 primary immunodeficiency disease ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:630 genetic disease ISO RGD:1343765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8786191 Mrpl40 mitochondrial ribosomal protein L40 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1343765 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8786201 Actr5 actin related protein 5 gene DOID:2234 focal epilepsy ISO RGD:1317453 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8786201 Actr5 actin related protein 5 gene DOID:630 genetic disease ISO RGD:1317453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603206 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C ISO RGD:1603206 D RGD:7240710 20180130 OMIM 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C ISO RGD:1603206 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C PMID:16199547|PMID:17564964|PMID:23777631|PMID:23844677|PMID:25741868|PMID:28492532 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:16728649|PMID:17564964 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 ISO RGD:1603206 D RGD:7240710 20180130 OMIM 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 ISO RGD:1603206 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 | ClinVar Annotator: match by term: PLEKHG5-related condition PMID:16199547|PMID:16728649|PMID:17564964|PMID:17576681|PMID:23777631|PMID:23844677|PMID:24497998|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28492532|PMID:33220101|PMID:34602496|PMID:9536098 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:12377 spinal muscular atrophy ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:17576681|PMID:28492532|PMID:9536098 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:574 peripheral nervous system disease ISO RGD:1603206 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:29177109 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:630 genetic disease ISO RGD:1603206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:24497998|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28492532|PMID:9536098 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:870 neuropathy ISO RGD:1603206 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:29177109 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9000227 Hypogonadism and Testicular Atrophy ISO RGD:1603206 D RGD:8554872 20230627 ClinVar ClinVar Annotator: match by term: Testicular atrophy PMID:25741868|PMID:26392352|PMID:28492532 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8786214 Plekhg5 pleckstrin homology and RhoGEF domain containing G5 gene DOID:9004930 Spinal Muscular Atrophy, Facioscapulohumeral Type ISO RGD:1603206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type 8786245 Smoc2 SPARC related modular calcium binding 2 gene DOID:5419 schizophrenia ISO RGD:1315436 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8786245 Smoc2 SPARC related modular calcium binding 2 gene DOID:630 genetic disease ISO RGD:1315436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8786245 Smoc2 SPARC related modular calcium binding 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8786245 Smoc2 SPARC related modular calcium binding 2 gene DOID:9003504 Dentin Dysplasia, Type 1 ISO RGD:1315436 D RGD:7240710 20180130 OMIM 8786245 Smoc2 SPARC related modular calcium binding 2 gene DOID:9003504 Dentin Dysplasia, Type 1 ISO RGD:1315436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth PMID:22152679|PMID:23317772|PMID:25741868 8786271 Eaf1 ELL associated factor 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1320738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8786271 Eaf1 ELL associated factor 1 gene DOID:630 genetic disease ISO RGD:1320738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786281 Them5 thioesterase superfamily member 5 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8786281 Them5 thioesterase superfamily member 5 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8786281 Them5 thioesterase superfamily member 5 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8786281 Them5 thioesterase superfamily member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8786281 Them5 thioesterase superfamily member 5 gene DOID:5812 MHC class II deficiency ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8786281 Them5 thioesterase superfamily member 5 gene DOID:630 genetic disease ISO RGD:1601923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786281 Them5 thioesterase superfamily member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8786325 Tpr translocated promoter region, nuclear basket protein gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1321699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PMID:25741868|PMID:29397575 8786325 Tpr translocated promoter region, nuclear basket protein gene DOID:1059 intellectual disability ISO RGD:1321699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8786325 Tpr translocated promoter region, nuclear basket protein gene DOID:1540 parathyroid carcinoma ISO RGD:1321699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8786325 Tpr translocated promoter region, nuclear basket protein gene DOID:630 genetic disease ISO RGD:1321699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786325 Tpr translocated promoter region, nuclear basket protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1321699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 8786325 Tpr translocated promoter region, nuclear basket protein gene DOID:9004637 Autosomal Recessive Intellectual Developmental Disorder 79 ISO RGD:1321699 D RGD:7240710 20230531 OMIM 8786325 Tpr translocated promoter region, nuclear basket protein gene DOID:9004637 Autosomal Recessive Intellectual Developmental Disorder 79 ISO RGD:1321699 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 79 PMID:34494102 8786325 Tpr translocated promoter region, nuclear basket protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8786384 Lnpk lunapark, ER junction formation factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1323819 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8786384 Lnpk lunapark, ER junction formation factor gene DOID:630 genetic disease ISO RGD:1323819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786384 Lnpk lunapark, ER junction formation factor gene DOID:9009221 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ISO RGD:1323819 D RGD:7240710 20190315 OMIM 8786384 Lnpk lunapark, ER junction formation factor gene DOID:9009221 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ISO RGD:1323819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum PMID:25741868|PMID:30032983 8786420 Entpd3 ectonucleoside triphosphate diphosphohydrolase 3 gene DOID:10283 prostate cancer ISO RGD:1346927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8786420 Entpd3 ectonucleoside triphosphate diphosphohydrolase 3 gene DOID:630 genetic disease ISO RGD:1346927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786449 Vegfc vascular endothelial growth factor C gene DOID:0001816 angiosarcoma ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 8786449 Vegfc vascular endothelial growth factor C gene DOID:0002116 pterygium ISO RGD:732214 D RGD:9068941 20200609 RGD mRNA:increased expression:bulbar conjunctiva: PMID:22801834|REF_RGD_ID:8548457 8786449 Vegfc vascular endothelial growth factor C gene DOID:0050580 hereditary lymphedema ISO RGD:732215 D RGD:9068941 20220825 MouseDO OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907 8786449 Vegfc vascular endothelial growth factor C gene DOID:0070209 hereditary lymphedema ID ISO RGD:732214 D RGD:7240710 20180130 OMIM 8786449 Vegfc vascular endothelial growth factor C gene DOID:0070209 hereditary lymphedema ID ISO RGD:732214 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphedema, hereditary, ID PMID:23410910|PMID:24744435|PMID:25741868|PMID:30071673 8786449 Vegfc vascular endothelial growth factor C gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:17094484|REF_RGD_ID:2315482 8786449 Vegfc vascular endothelial growth factor C gene DOID:1909 melanoma ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17562445 8786449 Vegfc vascular endothelial growth factor C gene DOID:1936 atherosclerosis ISO RGD:732215 D RGD:9068941 20200609 RGD associated with hypercholesterolemia;protein:increased expression:serum: PMID:22206010|REF_RGD_ID:7483588 8786449 Vegfc vascular endothelial growth factor C gene DOID:2154 nephroblastoma disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:17257131|REF_RGD_ID:2315481 8786449 Vegfc vascular endothelial growth factor C gene DOID:234 colon adenocarcinoma ISO RGD:619800 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:18424890|REF_RGD_ID:2315488 8786449 Vegfc vascular endothelial growth factor C gene DOID:2394 ovarian cancer disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19911196|REF_RGD_ID:2315470 8786449 Vegfc vascular endothelial growth factor C gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19885590|REF_RGD_ID:2315471 8786449 Vegfc vascular endothelial growth factor C gene DOID:3113 papillary carcinoma disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD associated with thyroid diseases;mRNA:increased expression:thyroid gland: PMID:12203051|REF_RGD_ID:7483611 8786449 Vegfc vascular endothelial growth factor C gene DOID:3459 breast carcinoma ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19382240|REF_RGD_ID:2315477 8786449 Vegfc vascular endothelial growth factor C gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:732214 D RGD:9068941 20221027 RGD protein:increased expression:pancreas (human) PMID:22082308|REF_RGD_ID:155630643 8786449 Vegfc vascular endothelial growth factor C gene DOID:4450 renal cell carcinoma ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:19500329|REF_RGD_ID:2315476 8786449 Vegfc vascular endothelial growth factor C gene DOID:5082 liver cirrhosis ISO RGD:732214 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:18544126|REF_RGD_ID:15003200 8786449 Vegfc vascular endothelial growth factor C gene DOID:630 genetic disease ISO RGD:732214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786449 Vegfc vascular endothelial growth factor C gene DOID:684 hepatocellular carcinoma ISO RGD:732214 D RGD:9068941 20200609 RGD associated with liver cirrhosis; protein:increased expression:liver: PMID:18544126|REF_RGD_ID:15003200 8786449 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:19923084|REF_RGD_ID:2315469 8786449 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder PMID:17034609|REF_RGD_ID:2315484 8786449 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:19589137|REF_RGD_ID:2315475 8786449 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Lymphatic Metastasis; PMID:15289890|REF_RGD_ID:7488946 8786449 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis ISO RGD:732214 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:19608016|REF_RGD_ID:2315474 8786449 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD associated with thyroid diseases;mRNA:increased expression:thyroid gland: PMID:12203051|REF_RGD_ID:7483611 8786449 Vegfc vascular endothelial growth factor C gene DOID:9000081 Lymphatic Metastasis exacerbates ISO RGD:732214 D RGD:9068941 20221027 RGD associated with pancreatic adenocarcinoma;protein:increased expression:pancreas (human) PMID:18061373|REF_RGD_ID:155630642 8786449 Vegfc vascular endothelial growth factor C gene DOID:9002801 Recurrence ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26124351 8786449 Vegfc vascular endothelial growth factor C gene DOID:9004009 Reperfusion Injury ISO RGD:619800 D RGD:9068941 20200609 RGD PMID:18704465|REF_RGD_ID:2315487 8786449 Vegfc vascular endothelial growth factor C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8786449 Vegfc vascular endothelial growth factor C gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:732214 D RGD:9068941 20200609 RGD PMID:15289890|REF_RGD_ID:7488946 8786449 Vegfc vascular endothelial growth factor C gene DOID:9008939 Breast Neoplasms ISO RGD:732214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509974|PMID:26124351 8786462 LOC102016246 cytochrome c oxidase assembly factor 7 gene DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 ISO RGD:1606511 D RGD:7240710 20190515 OMIM 8786462 LOC102016246 cytochrome c oxidase assembly factor 7 gene DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 ISO RGD:1606511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 PMID:25741868|PMID:27683825|PMID:28492532|PMID:29718187|PMID:30885959 8786462 LOC102016246 cytochrome c oxidase assembly factor 7 gene DOID:630 genetic disease ISO RGD:1606511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8786469 Prag1 PEAK1 related, kinase-activating pseudokinase 1 gene DOID:630 genetic disease ISO RGD:11554295 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:0060041 autism spectrum disorder ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts PMID:21419380|PMID:25741868|PMID:28492532 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ISO RGD:1605560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 PMID:25741868|PMID:28492532|PMID:29389947|PMID:29915382 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B ISO RGD:1605560 D RGD:7240710 20180130 OMIM 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B ISO RGD:1605560 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability PMID:20517947|PMID:21419380|PMID:24202401|PMID:25044933|PMID:25741868|PMID:28492532|PMID:30763456 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A ISO RGD:1605560 D RGD:7240710 20180130 OMIM 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEPACAM-related condition | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2A PMID:21419380|PMID:25044933|PMID:25741868|PMID:28492532 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:0110877 holoprosencephaly 11 ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:0111723 Jacobsen Syndrome ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:1059 intellectual disability ISO RGD:1605560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1605560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29915382 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8786479 Hepacam hepatic and glial cell adhesion molecule gene DOID:9007661 Dwarfism ISO RGD:1605560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8786494 Crtap cartilage associated protein gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:1320245 D RGD:7240710 20180130 OMIM 8786494 Crtap cartilage associated protein gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:1320245 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 | ClinVar Annotator: match by term: Osteogenesis imperfecta, perinatal lethal autosomal recessive PMID:12110406|PMID:16199547|PMID:17055431|PMID:17192541|PMID:17576681|PMID:18414213|PMID:18566967|PMID:18996919|PMID:19550437|PMID:19846465|PMID:19862557|PMID:21955071|PMID:23054245|PMID:24033266|PMID:24715559|PMID:25604815|PMID:25741868|PMID:27509835|PMID:28116328|PMID:28492532|PMID:31742715|PMID:32169308|PMID:32922437|PMID:33093841|PMID:34627339|PMID:35186396|PMID:35313637|PMID:9536098 8786494 Crtap cartilage associated protein gene DOID:12347 osteogenesis imperfecta ISO RGD:1320245 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16199547|PMID:17055431|PMID:17192541|PMID:18996919|PMID:19550437|PMID:24033266|PMID:25741868|PMID:28492532 8786494 Crtap cartilage associated protein gene DOID:12347 osteogenesis imperfecta ISO RGD:1320245 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16199547|PMID:17055431|PMID:17192541|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532|PMID:32169308|PMID:35313637 8786494 Crtap cartilage associated protein gene DOID:630 genetic disease ISO RGD:1320245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8786494 Crtap cartilage associated protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8786506 Tbc1d2 TBC1 domain family member 2 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8786506 Tbc1d2 TBC1 domain family member 2 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8786506 Tbc1d2 TBC1 domain family member 2 gene DOID:0080600 COVID-19 ISO RGD:1315719 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8786506 Tbc1d2 TBC1 domain family member 2 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8786506 Tbc1d2 TBC1 domain family member 2 gene DOID:1059 intellectual disability ISO RGD:1315719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8786506 Tbc1d2 TBC1 domain family member 2 gene DOID:12712 nephronophthisis ISO RGD:1315719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8786506 Tbc1d2 TBC1 domain family member 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8786506 Tbc1d2 TBC1 domain family member 2 gene DOID:630 genetic disease ISO RGD:1315719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786506 Tbc1d2 TBC1 domain family member 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1315719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8786506 Tbc1d2 TBC1 domain family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8786525 Fastkd3 FAST kinase domains 3 gene DOID:630 genetic disease ISO RGD:1604298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786543 Ebf3 EBF transcription factor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1346410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8786543 Ebf3 EBF transcription factor 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8786543 Ebf3 EBF transcription factor 3 gene DOID:0081176 hypotonia, ataxia, and delayed development syndrome ISO RGD:1346410 D RGD:7240710 20190315 OMIM 8786543 Ebf3 EBF transcription factor 3 gene DOID:0081176 hypotonia, ataxia, and delayed development syndrome ISO RGD:1346410 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome PMID:19627984|PMID:20300201|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:28492532|PMID:29062322|PMID:29162653|PMID:30145808|PMID:31952901|PMID:32366537|PMID:32581362|PMID:32637629|PMID:33102976|PMID:33956416|PMID:35340043|PMID:35346031 8786543 Ebf3 EBF transcription factor 3 gene DOID:1059 intellectual disability ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 8786543 Ebf3 EBF transcription factor 3 gene DOID:12143 neurogenic bladder ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurogenic bladder PMID:28017373|PMID:32366537|PMID:33956416 8786543 Ebf3 EBF transcription factor 3 gene DOID:12859 choreatic disease ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:32581362 8786543 Ebf3 EBF transcription factor 3 gene DOID:13501 Moebius syndrome ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 8786543 Ebf3 EBF transcription factor 3 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 8786543 Ebf3 EBF transcription factor 3 gene DOID:630 genetic disease ISO RGD:1346410 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19627984|PMID:20300201|PMID:20876732|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:28492532|PMID:29062322|PMID:29162653|PMID:30145808|PMID:32637629|PMID:33102976|PMID:33956416|PMID:35340043|PMID:7796816 8786543 Ebf3 EBF transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28017370|PMID:31952901|PMID:33956416 8786543 Ebf3 EBF transcription factor 3 gene DOID:9004866 Ataxia ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyssynergia PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 8786543 Ebf3 EBF transcription factor 3 gene DOID:9005466 Language Development Disorders ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Expressive language delay PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 8786543 Ebf3 EBF transcription factor 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043 8786543 Ebf3 EBF transcription factor 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1346410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28017370|PMID:28017372|PMID:32581362|PMID:33956416|PMID:35340043 8786586 Vps41 VPS41 subunit of HOPS complex gene DOID:0070410 autosomal recessive spinocerebellar ataxia 29 ISO RGD:1353898 D RGD:7240710 20210728 OMIM 8786586 Vps41 VPS41 subunit of HOPS complex gene DOID:0070410 autosomal recessive spinocerebellar ataxia 29 ISO RGD:1353898 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29 PMID:25741868|PMID:32808683|PMID:33764426|PMID:33851776 8786586 Vps41 VPS41 subunit of HOPS complex gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8786586 Vps41 VPS41 subunit of HOPS complex gene DOID:630 genetic disease ISO RGD:1353898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786636 Mob1b MOB kinase activator 1B gene DOID:630 genetic disease ISO RGD:1312955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786646 Kcne4 potassium voltage-gated channel subfamily E regulatory subunit 4 gene DOID:630 genetic disease ISO RGD:1346142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786646 Kcne4 potassium voltage-gated channel subfamily E regulatory subunit 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8786653 Fiz1 FLT3 interacting zinc finger 1 gene DOID:630 genetic disease ISO RGD:1605920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786676 Tbc1d4 TBC1 domain family member 4 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1345136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8786676 Tbc1d4 TBC1 domain family member 4 gene DOID:3138 acanthosis nigricans ISO RGD:1345136 D RGD:9068941 20200609 RGD PMID:19470471|REF_RGD_ID:7248544 8786676 Tbc1d4 TBC1 domain family member 4 gene DOID:630 genetic disease ISO RGD:1345136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8786676 Tbc1d4 TBC1 domain family member 4 gene DOID:9005905 Type 2 Diabetes Mellitus 5 ISO RGD:1345136 D RGD:7240710 20180130 OMIM 8786676 Tbc1d4 TBC1 domain family member 4 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1345136 D RGD:9068941 20200609 RGD PMID:19470471|REF_RGD_ID:7248544 8786676 Tbc1d4 TBC1 domain family member 4 gene DOID:9007692 Insulin Resistance ISO RGD:1345136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance 8786703 Smo smoothened, frizzled class receptor gene DOID:0050894 ameloblastoma ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 8786703 Smo smoothened, frizzled class receptor gene DOID:0050902 medulloblastoma ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:19726788|PMID:22679179|PMID:25759020 8786703 Smo smoothened, frizzled class receptor gene DOID:0050902 medulloblastoma treatment ISO RGD:735969 D RGD:9068941 20211112 RGD PMID:22084163|REF_RGD_ID:150521622 8786703 Smo smoothened, frizzled class receptor gene DOID:0060071 pre-malignant neoplasm ISO RGD:3726 D RGD:9068941 20211105 RGD PMID:30537251|REF_RGD_ID:150520178 8786703 Smo smoothened, frizzled class receptor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867347 8786703 Smo smoothened, frizzled class receptor gene DOID:10534 stomach cancer disease_progression ISO RGD:733306 D RGD:9068941 20210813 RGD mRNA:increased expression:liver PMID:16339184|REF_RGD_ID:150340550 8786703 Smo smoothened, frizzled class receptor gene DOID:10534 stomach cancer treatment ISO RGD:733306 D RGD:9068941 20210813 RGD PMID:28350784|REF_RGD_ID:150340549 8786703 Smo smoothened, frizzled class receptor gene DOID:10534 stomach cancer treatment ISO RGD:735969 D RGD:9068941 20210813 RGD PMID:28350784|REF_RGD_ID:150340549 8786703 Smo smoothened, frizzled class receptor gene DOID:10907 microcephaly ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8786703 Smo smoothened, frizzled class receptor gene DOID:11832 visual epilepsy ISO RGD:3726 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:16197497|REF_RGD_ID:2324992 8786703 Smo smoothened, frizzled class receptor gene DOID:1793 pancreatic cancer ISO RGD:733306 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19396459|REF_RGD_ID:2324910 8786703 Smo smoothened, frizzled class receptor gene DOID:1793 pancreatic cancer ISO RGD:735969 D RGD:9068941 20200609 RGD PMID:19460966|REF_RGD_ID:2324978 8786703 Smo smoothened, frizzled class receptor gene DOID:1793 pancreatic cancer treatment ISO RGD:733306 D RGD:9068941 20210813 RGD PMID:22859707|REF_RGD_ID:150340554 8786703 Smo smoothened, frizzled class receptor gene DOID:219 colon cancer ISO RGD:733306 D RGD:9068941 20210813 RGD protein:increased expression:colon PMID:23098507|REF_RGD_ID:150340555 8786703 Smo smoothened, frizzled class receptor gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:733306 D RGD:9068941 20200609 RGD PMID:15308259|REF_RGD_ID:12801443 8786703 Smo smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma ISO RGD:733306 D RGD:7240710 20230505 OMIM 8786703 Smo smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma ISO RGD:733306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:19726788|PMID:22679179|PMID:25741868|PMID:25759020|PMID:28492532|PMID:9422511 8786703 Smo smoothened, frizzled class receptor gene DOID:2513 basal cell carcinoma disease_progression ISO RGD:733306 D RGD:9068941 20200609 RGD mRNA:increased expression:skin of body PMID:10504535|REF_RGD_ID:12801453 8786703 Smo smoothened, frizzled class receptor gene DOID:2602 chondroma treatment ISO RGD:735969 D RGD:9068941 20200609 RGD PMID:26091072|REF_RGD_ID:12910968 8786703 Smo smoothened, frizzled class receptor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:23499832|PMID:23696546|REF_RGD_ID:12832759|REF_RGD_ID:12879404 8786703 Smo smoothened, frizzled class receptor gene DOID:3565 meningioma ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334667 8786703 Smo smoothened, frizzled class receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:733306 D RGD:9068941 20200609 RGD PMID:16826192|REF_RGD_ID:2324981 8786703 Smo smoothened, frizzled class receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8786703 Smo smoothened, frizzled class receptor gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:3726 D RGD:9068941 20210813 RGD PMID:23108119|REF_RGD_ID:150340553 8786703 Smo smoothened, frizzled class receptor gene DOID:4989 pancreatitis ISO RGD:3726 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20062892|REF_RGD_ID:2324983 8786703 Smo smoothened, frizzled class receptor gene DOID:5082 liver cirrhosis treatment ISO RGD:3726 D RGD:9068941 20211119 RGD PMID:22994359|REF_RGD_ID:150521663 8786703 Smo smoothened, frizzled class receptor gene DOID:5593 gastric papillary adenocarcinoma ISO RGD:733306 D RGD:9068941 20210813 RGD protein:increased expression:stomach PMID:17259107|REF_RGD_ID:150340552 8786703 Smo smoothened, frizzled class receptor gene DOID:630 genetic disease ISO RGD:733306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786703 Smo smoothened, frizzled class receptor gene DOID:6595 gastric tubular adenocarcinoma ISO RGD:733306 D RGD:9068941 20210813 RGD protein:increased expression:stomach PMID:17259107|REF_RGD_ID:150340552 8786703 Smo smoothened, frizzled class receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733306 D RGD:9068941 20210813 RGD DNA:SNP: :rs3824 (human) PMID:25944162|REF_RGD_ID:150340548 8786703 Smo smoothened, frizzled class receptor gene DOID:687 hepatoblastoma ISO RGD:733306 D RGD:9068941 20211112 RGD protein:increased expression:liver PMID:21159571|REF_RGD_ID:150521618 8786703 Smo smoothened, frizzled class receptor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:733306 D RGD:9068941 20211112 RGD PMID:23379358|REF_RGD_ID:150521620 8786703 Smo smoothened, frizzled class receptor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:733306 D RGD:9068941 20211112 RGD DNA:missense mutations PMID:33209614|REF_RGD_ID:150521621 8786703 Smo smoothened, frizzled class receptor gene DOID:9000066 Jaw Abnormalities ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16580747 8786703 Smo smoothened, frizzled class receptor gene DOID:9000081 Lymphatic Metastasis ISO RGD:733306 D RGD:9068941 20211105 RGD associated with colorectal cancer PMID:30784110|REF_RGD_ID:150520177 8786703 Smo smoothened, frizzled class receptor gene DOID:9000392 Fluoride Poisoning treatment ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:24388991|REF_RGD_ID:12879411 8786703 Smo smoothened, frizzled class receptor gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:3726 D RGD:9068941 20211112 RGD PMID:28149272|REF_RGD_ID:150521623 8786703 Smo smoothened, frizzled class receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:733306 D RGD:9068941 20210813 RGD associated with colon cancer PMID:23098507|REF_RGD_ID:150340555 8786703 Smo smoothened, frizzled class receptor gene DOID:9001441 Adenomatous Polyps ISO RGD:735969 D RGD:9068941 20210813 RGD PMID:19427313|REF_RGD_ID:150340551 8786703 Smo smoothened, frizzled class receptor gene DOID:9002201 Maxillary Neoplasms ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 8786703 Smo smoothened, frizzled class receptor gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 8786703 Smo smoothened, frizzled class receptor gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 8786703 Smo smoothened, frizzled class receptor gene DOID:9004464 Skin Neoplasms ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 8786703 Smo smoothened, frizzled class receptor gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:24782623|REF_RGD_ID:12879405 8786703 Smo smoothened, frizzled class receptor gene DOID:9006041 Osteoarthritis, Hip ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8786703 Smo smoothened, frizzled class receptor gene DOID:9006151 Choroidal Neovascularization, Experimental treatment ISO RGD:3726 D RGD:9068941 20200609 RGD PMID:21063852|REF_RGD_ID:12859045 8786703 Smo smoothened, frizzled class receptor gene DOID:9007456 Female Infertility ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28560483 8786703 Smo smoothened, frizzled class receptor gene DOID:9007502 Brain Neoplasms ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9581815 8786703 Smo smoothened, frizzled class receptor gene DOID:9007660 Pallister-Hall-like Syndrome ISO RGD:733306 D RGD:7240710 20200812 OMIM 8786703 Smo smoothened, frizzled class receptor gene DOID:9007660 Pallister-Hall-like Syndrome ISO RGD:733306 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital hypothalamic hamartoma syndrome | ClinVar Annotator: match by term: Hamartoma of the hypothalamus | ClinVar Annotator: match by term: Hypothalamic hamartoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:30497210|PMID:32413283 8786703 Smo smoothened, frizzled class receptor gene DOID:9007790 Winter Shortland Temple Syndrome ISO RGD:733306 D RGD:7240710 20190315 OMIM 8786703 Smo smoothened, frizzled class receptor gene DOID:9007790 Winter Shortland Temple Syndrome ISO RGD:733306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Curry-Jones syndrome PMID:16531740|PMID:18798318|PMID:24728327|PMID:25741868|PMID:27236920|PMID:3144990|PMID:7606318 8786703 Smo smoothened, frizzled class receptor gene DOID:9206 Barrett's esophagus treatment ISO RGD:3726 D RGD:9068941 20210813 RGD PMID:23108119|REF_RGD_ID:150340553 8786703 Smo smoothened, frizzled class receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8786703 Smo smoothened, frizzled class receptor gene DOID:9256 colorectal cancer ISO RGD:733306 D RGD:9068941 20211105 RGD PMID:22901214|REF_RGD_ID:150520174 8786703 Smo smoothened, frizzled class receptor gene DOID:9282 ocular hypertension ISO RGD:3726 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retinal ganglion cell PMID:20071678|REF_RGD_ID:2324982 8786719 Tmem190 transmembrane protein 190 gene DOID:630 genetic disease ISO RGD:1604743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786730 Cimap3 ciliary microtubule associated protein 3 gene DOID:12849 autistic disorder ISO RGD:1604536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8786730 Cimap3 ciliary microtubule associated protein 3 gene DOID:630 genetic disease ISO RGD:1604536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786749 Ctsa cathepsin A gene DOID:0080540 galactosialidosis ISO RGD:1319205 D RGD:7240710 20180130 OMIM 8786749 Ctsa cathepsin A gene DOID:0080540 galactosialidosis ISO RGD:1319205 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase | ClinVar Annotator: match by term: Galactosialidosis, adult | ClinVar Annotator: match by term: Galactosialidosis, early infantile | ClinVar Annotator: match by term: Galactosialidosis, late infantile PMID:10333491|PMID:10571006|PMID:10944848|PMID:12649068|PMID:15110321|PMID:16199547|PMID:16538002|PMID:1756715|PMID:17576681|PMID:18396002|PMID:18937050|PMID:19763152|PMID:20307669|PMID:2148053|PMID:22386972|PMID:22406018|PMID:23806086|PMID:23915561|PMID:24033266|PMID:24088042|PMID:24767253|PMID:24769197|PMID:24779613|PMID:25075748|PMID:25741868|PMID:26036949|PMID:26259553|PMID:27664989|PMID:27848944|PMID:28334938|PMID:28454995|PMID:28492532|PMID:28603679|PMID:28702507|PMID:29333829|PMID:29876240|PMID:31044084|PMID:3149149|PMID:32036093|PMID:32774297|PMID:8514852|PMID:8968752|PMID:9536098|PMID:9603439 8786749 Ctsa cathepsin A gene DOID:1826 epilepsy ISO RGD:1319205 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Seizure PMID:15110321|PMID:16199547|PMID:23915561|PMID:28492532 8786749 Ctsa cathepsin A gene DOID:2234 focal epilepsy ISO RGD:1319205 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8786749 Ctsa cathepsin A gene DOID:3211 lysosomal storage disease ISO RGD:1319205 D RGD:9068941 20200609 RGD PMID:8514852|REF_RGD_ID:1599169 8786749 Ctsa cathepsin A gene DOID:630 genetic disease ISO RGD:1319205 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18937050|PMID:25741868|PMID:28492532 8786749 Ctsa cathepsin A gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1319205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8786749 Ctsa cathepsin A gene DOID:9008386 Hydrops Fetalis ISO RGD:1319205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 8786768 Btk Bruton tyrosine kinase gene DOID:0040084 Streptococcus pneumonia ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:30873567|REF_RGD_ID:124715473 8786768 Btk Bruton tyrosine kinase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1342660 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:24869598|PMID:25082755|PMID:25189416|PMID:25741868|PMID:27199251|PMID:28049639|PMID:28212557|PMID:28418267|PMID:28492532|PMID:29496671|PMID:29875397|PMID:30018078|PMID:32455989|PMID:33154951|PMID:36029036 8786768 Btk Bruton tyrosine kinase gene DOID:0050746 mantle cell lymphoma treatment ISO RGD:1342660 D RGD:9068941 20200609 RGD PMID:23045577|REF_RGD_ID:11040699 8786768 Btk Bruton tyrosine kinase gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1342660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness dystonia syndrome 8786768 Btk Bruton tyrosine kinase gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:increased expression:oral epithelium (human) PMID:33640903|REF_RGD_ID:151347851 8786768 Btk Bruton tyrosine kinase gene DOID:0060180 colitis ameliorates ISO RGD:1551411 D RGD:9068941 20210326 RGD Associated with candidiasis PMID:25379804|REF_RGD_ID:124713568 8786768 Btk Bruton tyrosine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8786768 Btk Bruton tyrosine kinase gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1342660 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8786768 Btk Bruton tyrosine kinase gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1342660 D RGD:7240710 20180130 OMIM 8786768 Btk Bruton tyrosine kinase gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1342660 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:10092645|PMID:10373551|PMID:10612838|PMID:10737994|PMID:10754312|PMID:10844531|PMID:10859027|PMID:10887125|PMID:11027452|PMID:11206059|PMID:11410123|PMID:11438999|PMID:11445810|PMID:11472359|PMID:11527964|PMID:11555397|PMID:11668622|PMID:11742281|PMID:11809909|PMID:11892085|PMID:11956200|PMID:12204007|PMID:12217331|PMID:1240516|PMID:12405164|PMID:12655572|PMID:12768435|PMID:14974089|PMID:15024743|PMID:15112668|PMID:15358621|PMID:15661032|PMID:15821893|PMID:16159644|PMID:16199547|PMID:16297664|PMID:16712653|PMID:16729790|PMID:16862044|PMID:16943681|PMID:16951917|PMID:17045652|PMID:17327079|PMID:17576681|PMID:17765309|PMID:18241230|PMID:18518992|PMID:18677443|PMID:19039656|PMID:19419768|PMID:19763152|PMID:19904586|PMID:20307669|PMID:20529312|PMID:20721470|PMID:21039741|PMID:21520333|PMID:21984432|PMID:22406018|PMID:22736418|PMID:23335184|PMID:23424595|PMID:24001798|PMID:24033266|PMID:24307874|PMID:24383975|PMID:24477949|PMID:24586880|PMID:24658450|PMID:24869598|PMID:24885015|PMID:25082755|PMID:25189416|PMID:25270678|PMID:25640679|PMID:25741868|PMID:25777788|PMID:26915675|PMID:26931785|PMID:26960951|PMID:27199251|PMID:27512878|PMID:27535475|PMID:27577878|PMID:27593100|PMID:27980540|PMID:28049639|PMID:28212557|PMID:28236219|PMID:28359783|PMID:28418267|PMID:28492532|PMID:29202590|PMID:29424453|PMID:29496671|PMID:29503650|PMID:29709555|PMID:29875397|PMID:29921932|PMID:30018078|PMID:30072168|PMID:30240888|PMID:30290665|PMID:30311057|PMID:30564228|PMID:30697212|PMID:30882382|PMID:32067425|PMID:32117230|PMID:32441320|PMID:32455989|PMID:32477911|PMID:32499645|PMID:32552675|PMID:32581362|PMID:32888943|PMID:33013854|PMID:33154951|PMID:33224144|PMID:33225392|PMID:33377626|PMID:33815962|PMID:34029777|PMID:34182127|PMID:34262886|PMID:3486747|PMID:35382780|PMID:36029036|PMID:7627183|PMID:7633420|PMID:7633429|PMID:7678697|PMID:7711734|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8013627|PMID:8090769|PMID:8162018|PMID:8162056|PMID:8332900|PMID:8332901|PMID:8380905|PMID:8562928|PMID:8594569|PMID:8644706|PMID:8695804|PMID:8723128|PMID:8834236|PMID:8938104|PMID:8939985|PMID:9106525|PMID:9143921|PMID:9188445|PMID:9192269|PMID:9260159|PMID:9445504|PMID:9524120|PMID:9536098|PMID:9545398|PMID:9880544 8786768 Btk Bruton tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1342660 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32503877 8786768 Btk Bruton tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:1342660 D RGD:9068941 20210326 RGD protein:increased phosphorylation:blood, monocyte (human) PMID:32503877|REF_RGD_ID:124713553 8786768 Btk Bruton tyrosine kinase gene DOID:0081136 agammaglobulinemia 1 ISO RGD:1342660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 PMID:10092645|PMID:11206059|PMID:11410123|PMID:11445810|PMID:11472359|PMID:11668622|PMID:11742281|PMID:12217331|PMID:14974089|PMID:15661032|PMID:16862044|PMID:16951917|PMID:17327079|PMID:17765309|PMID:18518992|PMID:19039656|PMID:19419768|PMID:19904586|PMID:20529312|PMID:23424595|PMID:25741868|PMID:27512878|PMID:27980540|PMID:28492532|PMID:29424453|PMID:29503650|PMID:30072168|PMID:30564228|PMID:7678697|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8090769|PMID:8162056|PMID:8380905|PMID:8594569|PMID:8695804|PMID:8939985|PMID:9143921|PMID:9188445|PMID:9445504|PMID:9524120|PMID:9545398|PMID:9880544 8786768 Btk Bruton tyrosine kinase gene DOID:11573 listeriosis ameliorates ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:23544144|REF_RGD_ID:124713555 8786768 Btk Bruton tyrosine kinase gene DOID:12053 cryptococcosis exacerbates ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:23820392|REF_RGD_ID:124715476 8786768 Btk Bruton tyrosine kinase gene DOID:12177 common variable immunodeficiency ISO RGD:1342660 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8786768 Btk Bruton tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8786768 Btk Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ISO RGD:1342660 D RGD:7240710 20180130 OMIM 8786768 Btk Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ISO RGD:1342660 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia PMID:10092645|PMID:10678660|PMID:10737994|PMID:10754312|PMID:10844531|PMID:10859027|PMID:10887125|PMID:11102984|PMID:11206059|PMID:11410123|PMID:11445810|PMID:11472359|PMID:11527964|PMID:11555397|PMID:11564824|PMID:11586956|PMID:11668622|PMID:11742281|PMID:11809909|PMID:12204007|PMID:12217331|PMID:12405164|PMID:12655572|PMID:12768435|PMID:14974089|PMID:15112668|PMID:15661032|PMID:16053733|PMID:16159644|PMID:16160918|PMID:16199547|PMID:16712653|PMID:16751014|PMID:16862044|PMID:16913189|PMID:16951917|PMID:17045652|PMID:17164954|PMID:17327079|PMID:17576681|PMID:17765309|PMID:18241230|PMID:18518992|PMID:18677443|PMID:19039656|PMID:19419768|PMID:19904586|PMID:20529312|PMID:21397315|PMID:23335184|PMID:23424595|PMID:24001798|PMID:24033266|PMID:24383975|PMID:24820629|PMID:24885015|PMID:25142992|PMID:25525159|PMID:25741868|PMID:25777788|PMID:26915675|PMID:26981933|PMID:27512878|PMID:27577878|PMID:27980540|PMID:28492532|PMID:2896233|PMID:29424453|PMID:29503650|PMID:30072168|PMID:30240888|PMID:30564228|PMID:30627929|PMID:31803177|PMID:32499645|PMID:32581362|PMID:33042921|PMID:34029777|PMID:34975878|PMID:4697357|PMID:7554467|PMID:7627183|PMID:7633420|PMID:7633429|PMID:7678697|PMID:7711734|PMID:7809124|PMID:7849697|PMID:7849721|PMID:7880320|PMID:8090769|PMID:8162056|PMID:8164701|PMID:8164707|PMID:8380905|PMID:8594569|PMID:8644706|PMID:8695804|PMID:8938104|PMID:8939985|PMID:9106525|PMID:9143921|PMID:9188445|PMID:9260159|PMID:9445504|PMID:9524120|PMID:9536098|PMID:9545398|PMID:9880544 8786768 Btk Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ameliorates ISO RGD:1342660 D RGD:9068941 20210326 RGD Human gene in mouse model PMID:20574453|REF_RGD_ID:124715475 8786768 Btk Bruton tyrosine kinase gene DOID:14179 X-linked agammaglobulinemia ameliorates ISO RGD:1342660 D RGD:9068941 20210326 RGD human gene in a mouse model PMID:15142874|REF_RGD_ID:124713551 8786768 Btk Bruton tyrosine kinase gene DOID:14499 Fabry disease ISO RGD:1342660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 8786768 Btk Bruton tyrosine kinase gene DOID:1556 arthus reaction treatment ISO RGD:1359683 D RGD:9068941 20200609 RGD PMID:22228807|REF_RGD_ID:11040701 8786768 Btk Bruton tyrosine kinase gene DOID:234 colon adenocarcinoma ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:colon (human) PMID:31402962|REF_RGD_ID:151347853 8786768 Btk Bruton tyrosine kinase gene DOID:2583 agammaglobulinemia ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia PMID:10352268 8786768 Btk Bruton tyrosine kinase gene DOID:2583 agammaglobulinemia susceptibility ISO RGD:1342660 D RGD:9068941 20200609 RGD DNA:insertions, point mutations PMID:8162018|REF_RGD_ID:1600526 8786768 Btk Bruton tyrosine kinase gene DOID:288 endometriosis of uterus disease_progression ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:31247078|REF_RGD_ID:124715471 8786768 Btk Bruton tyrosine kinase gene DOID:3234 central nervous system lymphoma ameliorates ISO RGD:1342660 D RGD:9068941 20210326 RGD PMID:28552327|REF_RGD_ID:124715478 8786768 Btk Bruton tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:increased expression:lung (human) PMID:32623229|REF_RGD_ID:151347854 8786768 Btk Bruton tyrosine kinase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:lung (human) PMID:32351880|REF_RGD_ID:151347848 8786768 Btk Bruton tyrosine kinase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:lung (human) PMID:31803536|REF_RGD_ID:151347849 8786768 Btk Bruton tyrosine kinase gene DOID:612 primary immunodeficiency disease ISO RGD:1342660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11809909|PMID:12405164|PMID:15661032|PMID:16862044|PMID:17576681|PMID:19419768|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:7627183|PMID:7849697|PMID:9536098|PMID:9545398 8786768 Btk Bruton tyrosine kinase gene DOID:630 genetic disease ISO RGD:1342660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786768 Btk Bruton tyrosine kinase gene DOID:707 B-cell lymphoma treatment ISO RGD:1342660 D RGD:9068941 20210326 RGD human cell in a mouse model PMID:28348046|REF_RGD_ID:124713554 8786768 Btk Bruton tyrosine kinase gene DOID:707 B-cell lymphoma treatment ISO RGD:1551411 D RGD:9068941 20200609 RGD PMID:25662332|REF_RGD_ID:11040764 8786768 Btk Bruton tyrosine kinase gene DOID:8584 Burkitt lymphoma ameliorates ISO RGD:1342660 D RGD:9068941 20210326 RGD Human cell line in a mouse model PMID:30546948|REF_RGD_ID:124715474 8786768 Btk Bruton tyrosine kinase gene DOID:8584 Burkitt lymphoma treatment ISO RGD:1342660 D RGD:9068941 20210326 RGD mRNA:increased expression:multiple (human) PMID:28474336|REF_RGD_ID:124713565 8786768 Btk Bruton tyrosine kinase gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1342660 D RGD:9068941 20220204 RGD associated with lung adenocarcinoma;protein:increased expression:lung (human) PMID:31200752|REF_RGD_ID:151347847 8786768 Btk Bruton tyrosine kinase gene DOID:9000371 influenza A ameliorates ISO RGD:1551411 D RGD:9068941 20210326 RGD Associated with Acute Lung Injury PMID:29516781|REF_RGD_ID:124713566 8786768 Btk Bruton tyrosine kinase gene DOID:9000873 Adenoviridae Infections susceptibility ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:15140955|REF_RGD_ID:124713567 8786768 Btk Bruton tyrosine kinase gene DOID:9002106 Pneumococcal Pneumonia ameliorates ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:30646846|REF_RGD_ID:124715470 8786768 Btk Bruton tyrosine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342660 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia PMID:24869598|PMID:25741868|PMID:28492532 8786768 Btk Bruton tyrosine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia treatment ISO RGD:1342660 D RGD:9068941 20200609 RGD PMID:23045577|REF_RGD_ID:11040699 8786768 Btk Bruton tyrosine kinase gene DOID:9002395 Hypothermia exacerbates ISO RGD:1323170 D RGD:9068941 20210326 RGD Associated with Endotoxemia; with Itk knockout PMID:26581914|REF_RGD_ID:11533169 8786768 Btk Bruton tyrosine kinase gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1359683 D RGD:9068941 20220311 RGD PMID:22228807|PMID:32083858|REF_RGD_ID:11040701|REF_RGD_ID:151665122 8786768 Btk Bruton tyrosine kinase gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1551411 D RGD:9068941 20200609 RGD PMID:22228807|REF_RGD_ID:11040701 8786768 Btk Bruton tyrosine kinase gene DOID:9004143 X-Linked Hypogammaglobulinemia ISO RGD:1342660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked PMID:8758136 8786768 Btk Bruton tyrosine kinase gene DOID:9006549 Enterovirus Infections treatment ISO RGD:1551411 D RGD:9068941 20210326 RGD Associated with X-linked agammaglobulinemia PMID:10508272|REF_RGD_ID:124715472 8786768 Btk Bruton tyrosine kinase gene DOID:9007278 Anaphylaxis treatment ISO RGD:1359683 D RGD:9068941 20200609 RGD PMID:22228807|REF_RGD_ID:11040701 8786768 Btk Bruton tyrosine kinase gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1342660 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 8786768 Btk Bruton tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1342660 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:24869598|PMID:25082755|PMID:25189416|PMID:25741868|PMID:27199251|PMID:28049639|PMID:28212557|PMID:28418267|PMID:28492532|PMID:29496671|PMID:29875397|PMID:30018078|PMID:32455989|PMID:33154951|PMID:36029036 8786768 Btk Bruton tyrosine kinase gene DOID:9065 leishmaniasis susceptibility ISO RGD:1551411 D RGD:9068941 20210326 RGD PMID:28783468|REF_RGD_ID:124715477 8786768 Btk Bruton tyrosine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1342660 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:31518438|REF_RGD_ID:151347850 8786768 Btk Bruton tyrosine kinase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1342660 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:31238520|REF_RGD_ID:151347852 8786768 Btk Bruton tyrosine kinase gene DOID:9261 nasopharynx carcinoma ISO RGD:1342660 D RGD:9068941 20220204 RGD mRNA:decreased expression:nasopharynx (human) PMID:33096113|REF_RGD_ID:151347855 8786793 Actr1b actin related protein 1B gene DOID:12557 Duane retraction syndrome ISO RGD:1316546 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome PMID:25741868 8786793 Actr1b actin related protein 1B gene DOID:630 genetic disease ISO RGD:1316546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786808 Abtb3 ankyrin repeat and BTB domain containing 3 gene DOID:10283 prostate cancer ISO RGD:1318539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8786808 Abtb3 ankyrin repeat and BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1318539 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786808 Abtb3 ankyrin repeat and BTB domain containing 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1318539 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8786843 Adissp adipose secreted signaling protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1323352 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8786843 Adissp adipose secreted signaling protein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1323352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8786843 Adissp adipose secreted signaling protein gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1323352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8786853 Cxcr6 C-X-C motif chemokine receptor 6 gene DOID:418 systemic scleroderma ISO RGD:1352090 D RGD:9068941 20200609 RGD protein:increased expression:skin, endothelial cell PMID:21303517|REF_RGD_ID:5135279 8786853 Cxcr6 C-X-C motif chemokine receptor 6 gene DOID:630 genetic disease ISO RGD:1352090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786853 Cxcr6 C-X-C motif chemokine receptor 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8786859 Plin3 perilipin 3 gene DOID:630 genetic disease ISO RGD:1343845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786859 Plin3 perilipin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8786878 Tppp2 tubulin polymerization promoting protein family member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1343731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8786878 Tppp2 tubulin polymerization promoting protein family member 2 gene DOID:630 genetic disease ISO RGD:1343731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786878 Tppp2 tubulin polymerization promoting protein family member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343731 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8786886 Tyr tyrosinase gene DOID:0050632 oculocutaneous albinism ISO RGD:1346000 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:10094567|PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:11829136|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:16170149|PMID:1642278|PMID:16907708|PMID:17952075|PMID:17999355|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20806075|PMID:20861488|PMID:21458243|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23085273|PMID:23324268|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26167114|PMID:26764160|PMID:26818737|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:27959697|PMID:28041643|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:30341532|PMID:30472657|PMID:31077556|PMID:31199599|PMID:31719542|PMID:32411182|PMID:32581362|PMID:32849781|PMID:33223529|PMID:33800529|PMID:34008892|PMID:34838614|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7902671|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8217557|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 8786886 Tyr tyrosinase gene DOID:0050632 oculocutaneous albinism treatment ISO RGD:11466 D RGD:9068941 20200609 RGD PMID:15250938|REF_RGD_ID:8694345 8786886 Tyr tyrosinase gene DOID:0050633 ocular albinism 1 ISO RGD:1346000 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:29345414|PMID:33223529|PMID:34008892|PMID:9163730 8786886 Tyr tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:1346000 D RGD:7240710 20240308 OMIM 8786886 Tyr tyrosinase gene DOID:0070094 oculocutaneous albinism type IA ISO RGD:1346000 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 1 | ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:11829136|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:16170149|PMID:16199547|PMID:16417222|PMID:1642278|PMID:16517127|PMID:16570240|PMID:1676041|PMID:16907708|PMID:1711223|PMID:17576681|PMID:17952075|PMID:17999355|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18701257|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20806075|PMID:20861488|PMID:20861851|PMID:2113511|PMID:21458243|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:22981120|PMID:23085273|PMID:23242301|PMID:23324268|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:24461674|PMID:24721949|PMID:2511845|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25455140|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26167114|PMID:26764160|PMID:26818737|PMID:27537549|PMID:27666373|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:27959697|PMID:28041643|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:2903492|PMID:29345414|PMID:30311386|PMID:30472657|PMID:30996339|PMID:31077556|PMID:31199599|PMID:31229681|PMID:31589614|PMID:31719542|PMID:32115698|PMID:32411182|PMID:32552135|PMID:32581362|PMID:32901917|PMID:33223529|PMID:33800529|PMID:34008892|PMID:34838614|PMID:35803923|PMID:36413997|PMID:37217489|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7886000|PMID:7902671|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8217557|PMID:8430701|PMID:8434585|PMID:8477259|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202|PMID:9536098 8786886 Tyr tyrosinase gene DOID:0070094 oculocutaneous albinism type IA treatment ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:19436266|REF_RGD_ID:8694335 8786886 Tyr tyrosinase gene DOID:0070095 oculocutaneous albinism type IB ISO RGD:1346000 D RGD:7240710 20240308 OMIM 8786886 Tyr tyrosinase gene DOID:0070095 oculocutaneous albinism type IB ISO RGD:1346000 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: Yellow albinism PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15937636|PMID:16098056|PMID:16199547|PMID:16417222|PMID:1642278|PMID:1676041|PMID:16907708|PMID:1711223|PMID:17952075|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1900307|PMID:1900309|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20861488|PMID:2113511|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23085273|PMID:23242301|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25333069|PMID:2567165|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28041643|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:30472657|PMID:31077556|PMID:31719542|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:35803923|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202 8786886 Tyr tyrosinase gene DOID:0090100 ocular albinism with sensorineural deafness ISO RGD:1346000 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28378818|PMID:28492532|PMID:28667292|PMID:28976636|PMID:30311386|PMID:31077556|PMID:31719542|PMID:32411182|PMID:5516239|PMID:7704033|PMID:7955413|PMID:9242509 8786886 Tyr tyrosinase gene DOID:1059 intellectual disability ISO RGD:1346000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8786886 Tyr tyrosinase gene DOID:11211 buphthalmos ISO RGD:11466 D RGD:9068941 20220825 MouseDO OMIM:231300 8786886 Tyr tyrosinase gene DOID:11830 myopia ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:31077556|PMID:33223529|PMID:34008892|PMID:7704033|PMID:7955413|PMID:9163730 8786886 Tyr tyrosinase gene DOID:12306 vitiligo ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:22834951|REF_RGD_ID:8694387 8786886 Tyr tyrosinase gene DOID:12306 vitiligo severity ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:8697641|REF_RGD_ID:8694409 8786886 Tyr tyrosinase gene DOID:1612 breast cancer ISO RGD:1346000 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:666627|PMID:7704033|PMID:9158138 8786886 Tyr tyrosinase gene DOID:1612 breast cancer ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138 8786886 Tyr tyrosinase gene DOID:1909 melanoma ISO RGD:1346000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027|PMID:19578364|PMID:21559390|PMID:26640592 8786886 Tyr tyrosinase gene DOID:1909 melanoma ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:22834951|REF_RGD_ID:8694387 8786886 Tyr tyrosinase gene DOID:1909 melanoma disease_progression ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:8609659|REF_RGD_ID:8694384 8786886 Tyr tyrosinase gene DOID:2513 basal cell carcinoma ISO RGD:1346000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 8786886 Tyr tyrosinase gene DOID:2615 papilloma treatment ISO RGD:11466 D RGD:9068941 20200609 RGD PMID:15007389|REF_RGD_ID:8694346 8786886 Tyr tyrosinase gene DOID:630 genetic disease ISO RGD:1346000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10987646|PMID:11284711|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:16417222|PMID:1642278|PMID:1676041|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20861488|PMID:21906913|PMID:21985232|PMID:22294196|PMID:22734612|PMID:23242301|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:2511845|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:28041643|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:31719542|PMID:32411182|PMID:5516239|PMID:7849740|PMID:8128955|PMID:8434585|PMID:9242509 8786886 Tyr tyrosinase gene DOID:6846 familial melanoma ISO RGD:1346000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:666627|PMID:7704033|PMID:9158138 8786886 Tyr tyrosinase gene DOID:6846 familial melanoma ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138 8786886 Tyr tyrosinase gene DOID:8465 retinoschisis treatment ISO RGD:1346000 D RGD:9068941 20200609 RGD PMID:20876567|REF_RGD_ID:8694343 8786886 Tyr tyrosinase gene DOID:8923 skin melanoma susceptibility ISO RGD:1346000 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R402Q(human) PMID:21906913|REF_RGD_ID:8694390 8786886 Tyr tyrosinase gene DOID:9000307 Presbycusis onset ISO RGD:11466 D RGD:9068941 20200609 RGD PMID:19141317|REF_RGD_ID:8694327 8786886 Tyr tyrosinase gene DOID:9000307 Presbycusis treatment ISO RGD:11466 D RGD:9068941 20200609 RGD associated with Albinism; PMID:19843244|REF_RGD_ID:8694324 8786886 Tyr tyrosinase gene DOID:9000570 Skin/Hair/Eye Pigmentation, Variation In, 3 ISO RGD:1346000 D RGD:7240710 20240308 OMIM 8786886 Tyr tyrosinase gene DOID:9000570 Skin/Hair/Eye Pigmentation, Variation In, 3 ISO RGD:1346000 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 3 PMID:10571953|PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:11829136|PMID:11858948|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:16170149|PMID:16199547|PMID:16417222|PMID:1642278|PMID:16570240|PMID:1676041|PMID:16907708|PMID:1711223|PMID:17576681|PMID:17952075|PMID:17999355|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18701257|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1900307|PMID:1900309|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19320745|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20806075|PMID:20861488|PMID:20861851|PMID:2113511|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:22981120|PMID:23085273|PMID:23242301|PMID:23324268|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24123366|PMID:24721949|PMID:24934919|PMID:2511845|PMID:25216246|PMID:25326635|PMID:25333069|PMID:2567165|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26167114|PMID:26818737|PMID:27537549|PMID:27666373|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27887888|PMID:27959697|PMID:28041643|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:30311386|PMID:30472657|PMID:30791930|PMID:30868578|PMID:30996339|PMID:31077556|PMID:31199599|PMID:31719542|PMID:32115698|PMID:32411182|PMID:32581362|PMID:33177702|PMID:33223529|PMID:33800529|PMID:34008892|PMID:34838614|PMID:35803923|PMID:36413997|PMID:5516239|PMID:666627|PMID:7704033|PMID:7849740|PMID:7902671|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202|PMID:9536098 8786886 Tyr tyrosinase gene DOID:9000965 Neoplasm Metastasis no_association ISO RGD:1346000 D RGD:9068941 20200609 RGD associated with melanoma; PMID:11092039|REF_RGD_ID:8694395 8786886 Tyr tyrosinase gene DOID:9001044 Choroidal Neovascularization ISO RGD:1346000 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Choroidal neovascularization PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:30472657|PMID:31077556|PMID:35803923|PMID:666627|PMID:7704033|PMID:7955413|PMID:9158138 8786886 Tyr tyrosinase gene DOID:9001386 Albinism ISO RGD:1346000 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Albinism PMID:10766867|PMID:10987646|PMID:12753405|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:16517127|PMID:17952075|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20861488|PMID:21541274|PMID:22294196|PMID:23504663|PMID:24033266|PMID:24721949|PMID:25216246|PMID:25741868|PMID:25919014|PMID:27734839|PMID:28041643|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:2903492|PMID:29345414|PMID:30472657|PMID:31077556|PMID:33223529|PMID:34008892|PMID:35803923|PMID:666627|PMID:7704033|PMID:7849740|PMID:7955413|PMID:8434585|PMID:9158138|PMID:9163730 8786886 Tyr tyrosinase gene DOID:9001386 Albinism treatment ISO RGD:11466 D RGD:9068941 20200609 RGD PMID:2112453|REF_RGD_ID:8694355 8786886 Tyr tyrosinase gene DOID:9001923 Foveal Hypoplasia ISO RGD:1346000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:10766867|PMID:11295837|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:27734839|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30472657|PMID:31077556|PMID:35803923|PMID:666627|PMID:7704033|PMID:7955413|PMID:9158138 8786886 Tyr tyrosinase gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:1346000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:28492532 8786886 Tyr tyrosinase gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:10987646|PMID:11284711|PMID:11829136|PMID:13680365|PMID:1429711|PMID:15381243|PMID:15635296|PMID:15937636|PMID:16056219|PMID:16098056|PMID:1642278|PMID:16907708|PMID:18326704|PMID:18463683|PMID:1899321|PMID:1903591|PMID:19060277|PMID:1943686|PMID:19626598|PMID:19865097|PMID:20806075|PMID:20861488|PMID:20861851|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23324268|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24721949|PMID:25216246|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25919014|PMID:26165494|PMID:27734839|PMID:27775880|PMID:27829221|PMID:28112372|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:29345414|PMID:31077556|PMID:31199599|PMID:32115698|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:7902671|PMID:8026428|PMID:8128955|PMID:9163730|PMID:9242509 8786886 Tyr tyrosinase gene DOID:9004464 Skin Neoplasms ISO RGD:1346000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 8786886 Tyr tyrosinase gene DOID:9004538 Hearing Loss ISO RGD:1346000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11284711|PMID:13680365|PMID:1429711|PMID:15146472|PMID:1642278|PMID:18463683|PMID:18821858|PMID:1903591|PMID:19060277|PMID:19208379|PMID:19320745|PMID:19865097|PMID:20861488|PMID:21906913|PMID:22734612|PMID:24033266|PMID:24123366|PMID:25216246|PMID:25333069|PMID:25741868|PMID:26167114|PMID:26818737|PMID:27734839|PMID:27775880|PMID:27887888|PMID:28266639|PMID:28492532|PMID:28667292|PMID:30311386|PMID:31719542|PMID:32411182|PMID:5516239|PMID:9242509 8786886 Tyr tyrosinase gene DOID:9005389 Oculocutaneous Albinism Type I, Temperature-Sensitive ISO RGD:1346000 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE | ClinVar Annotator: match by term: TYR-related condition PMID:10766867|PMID:10823941|PMID:10987646|PMID:11284711|PMID:11295837|PMID:11829136|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15635296|PMID:16056219|PMID:16417222|PMID:1642278|PMID:16570240|PMID:1676041|PMID:17576681|PMID:17952075|PMID:1820207|PMID:18326704|PMID:1832718|PMID:18463683|PMID:18488027|PMID:18488028|PMID:18701257|PMID:18925668|PMID:1899321|PMID:1900307|PMID:1900309|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:1943686|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20806075|PMID:20861488|PMID:2113511|PMID:21541274|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23085273|PMID:23242301|PMID:23324268|PMID:2342539|PMID:23504663|PMID:23882993|PMID:24033266|PMID:24721949|PMID:25216246|PMID:25326635|PMID:2567165|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26167114|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27959697|PMID:28112372|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:30472657|PMID:31077556|PMID:31199599|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35803923|PMID:666627|PMID:7704033|PMID:7902671|PMID:8128955|PMID:8430701|PMID:8434585|PMID:9158138|PMID:9163730|PMID:9242509|PMID:9259202|PMID:9536098 8786886 Tyr tyrosinase gene DOID:9008296 Eye Abnormalities ISO RGD:1346000 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:16098056|PMID:25216246|PMID:25741868|PMID:28041643|PMID:28266639|PMID:28492532|PMID:31077556|PMID:33800529|PMID:8026428 8786886 Tyr tyrosinase gene DOID:9650 pathologic nystagmus ISO RGD:1346000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:31077556|PMID:33223529|PMID:34008892|PMID:7704033|PMID:7955413|PMID:9163730 8786895 Crcp CGRP receptor component gene DOID:11446 sciatic neuropathy ISO RGD:620753 D RGD:9068941 20200609 RGD PMID:12895509|REF_RGD_ID:727768 8786895 Crcp CGRP receptor component gene DOID:14755 argininosuccinic aciduria ISO RGD:1601760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 8786895 Crcp CGRP receptor component gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8786895 Crcp CGRP receptor component gene DOID:630 genetic disease ISO RGD:1601760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786895 Crcp CGRP receptor component gene DOID:9002211 Hyperalgesia ISO RGD:620753 D RGD:9068941 20200609 RGD PMID:12895509|REF_RGD_ID:727768 8786913 Rad1 RAD1 checkpoint DNA exonuclease gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1315145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 8786913 Rad1 RAD1 checkpoint DNA exonuclease gene DOID:630 genetic disease ISO RGD:1315145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786913 Rad1 RAD1 checkpoint DNA exonuclease gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8786929 Ptpn21 protein tyrosine phosphatase non-receptor type 21 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:734205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 8786929 Ptpn21 protein tyrosine phosphatase non-receptor type 21 gene DOID:10283 prostate cancer ISO RGD:734205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8786929 Ptpn21 protein tyrosine phosphatase non-receptor type 21 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8786929 Ptpn21 protein tyrosine phosphatase non-receptor type 21 gene DOID:2661 myoepithelioma ISO RGD:734205 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8786929 Ptpn21 protein tyrosine phosphatase non-receptor type 21 gene DOID:630 genetic disease ISO RGD:734205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786960 Tex50 testis expressed 50 gene DOID:3755 antithrombin III deficiency ISO RGD:12879508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8786970 Lrrc23 leucine rich repeat containing 23 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8786970 Lrrc23 leucine rich repeat containing 23 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8786970 Lrrc23 leucine rich repeat containing 23 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8786970 Lrrc23 leucine rich repeat containing 23 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8786970 Lrrc23 leucine rich repeat containing 23 gene DOID:0111621 Temtamy syndrome ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8786970 Lrrc23 leucine rich repeat containing 23 gene DOID:630 genetic disease ISO RGD:1604054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8786970 Lrrc23 leucine rich repeat containing 23 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1601873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:0080006 bone development disease ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1601873 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:1561 cognitive disorder ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:1682 congenital heart disease ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:630 genetic disease ISO RGD:1601873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:850 lung disease ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:8923 skin melanoma disease_progression ISO RGD:1601873 D RGD:9068941 20221028 RGD PMID:33417923|REF_RGD_ID:155631266 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:9001487 Facies ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1311694 D RGD:9068941 20221028 RGD PMID:31466050|REF_RGD_ID:155631268 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:9006257 Growth Disorders ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:9006799 CHOPS Syndrome ISO RGD:1601873 D RGD:7240710 20180130 OMIM 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:9006799 CHOPS Syndrome ISO RGD:1601873 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: AFF4-related condition | ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome PMID:17576681|PMID:25730767|PMID:25741868|PMID:28492532|PMID:29758562|PMID:31058441|PMID:34782754|PMID:9536098 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:9007653 Multiple Abnormalities ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1601873 D RGD:9068941 20221028 RGD PMID:35223479|REF_RGD_ID:155631267 8786989 Aff4 ALF transcription elongation factor 4 gene DOID:9970 obesity ISO RGD:1601873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25730767 8787019 Xkr5 XK related 5 gene DOID:630 genetic disease ISO RGD:1604445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787038 Dop1b DOP1 leucine zipper like protein B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1314515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8787038 Dop1b DOP1 leucine zipper like protein B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1314515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8787038 Dop1b DOP1 leucine zipper like protein B gene DOID:10126 keratoconus ISO RGD:1314515 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 8787038 Dop1b DOP1 leucine zipper like protein B gene DOID:630 genetic disease ISO RGD:1314515 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8787038 Dop1b DOP1 leucine zipper like protein B gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1314515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 8787080 Sumo3 small ubiquitin like modifier 3 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1346388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 8787080 Sumo3 small ubiquitin like modifier 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1346388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8787080 Sumo3 small ubiquitin like modifier 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8787080 Sumo3 small ubiquitin like modifier 3 gene DOID:12849 autistic disorder ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8787080 Sumo3 small ubiquitin like modifier 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1346388 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8787080 Sumo3 small ubiquitin like modifier 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8787080 Sumo3 small ubiquitin like modifier 3 gene DOID:9263 homocystinuria ISO RGD:1346388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8787080 Sumo3 small ubiquitin like modifier 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346388 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8787089 Mettl18 methyltransferase 18, RPL3 N3(tau)-histidine gene DOID:1540 parathyroid carcinoma ISO RGD:1603373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8787089 Mettl18 methyltransferase 18, RPL3 N3(tau)-histidine gene DOID:630 genetic disease ISO RGD:1603373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787089 Mettl18 methyltransferase 18, RPL3 N3(tau)-histidine gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8787089 Mettl18 methyltransferase 18, RPL3 N3(tau)-histidine gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8787094 Efcab11 EF-hand calcium binding domain 11 gene DOID:630 genetic disease ISO RGD:1343471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787104 Lyg2 lysozyme g2 gene DOID:630 genetic disease ISO RGD:1603530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1346246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:9068941 20220114 RGD DNA:missense mutation:multiple (human) PMID:25586593|PMID:28942350|REF_RGD_ID:151232290|REF_RGD_ID:151232291 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:9068941 20220114 RGD DNA:missense mutations:multiple (human) PMID:22343920|REF_RGD_ID:151232292 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346246 D RGD:9068941 20220121 RGD PMID:28220884|REF_RGD_ID:151347177 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1346246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:12849 autistic disorder ISO RGD:1346246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:13636 Fanconi anemia ISO RGD:1346246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:4621 holoprosencephaly ISO RGD:1346246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25679214|PMID:25741868|PMID:31680349 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:630 genetic disease ISO RGD:1346246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9003273 Chromosome 8, Trisomy ISO RGD:1346246 D RGD:9068941 20220121 RGD PMID:28220884|REF_RGD_ID:151347177 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:1346246 D RGD:9068941 20220114 RGD DNA:missense mutation:multiple (human) PMID:28942350|REF_RGD_ID:151232291 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1346246 D RGD:9068941 20220121 RGD DNA:missense mutations:multiple (human) PMID:25550361|REF_RGD_ID:151232299 8787114 Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1346246 D RGD:9068941 20220121 RGD associated with aging PMID:32027246|REF_RGD_ID:151347178 8787129 Smyd2 SET and MYND domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8787129 Smyd2 SET and MYND domain containing 2 gene DOID:630 genetic disease ISO RGD:1354091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787129 Smyd2 SET and MYND domain containing 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1354091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25825497 8787129 Smyd2 SET and MYND domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8787143 Rab2b RAB2B, member RAS oncogene family gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1319277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 8787143 Rab2b RAB2B, member RAS oncogene family gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1319277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8787143 Rab2b RAB2B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1319277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787143 Rab2b RAB2B, member RAS oncogene family gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319277 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8787156 Cpvl carboxypeptidase vitellogenic like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8787156 Cpvl carboxypeptidase vitellogenic like gene DOID:630 genetic disease ISO RGD:1345667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787195 Chst9 carbohydrate sulfotransferase 9 gene DOID:1059 intellectual disability ISO RGD:1316417 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8787195 Chst9 carbohydrate sulfotransferase 9 gene DOID:630 genetic disease ISO RGD:1316417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787213 Zscan18 zinc finger and SCAN domain containing 18 gene DOID:630 genetic disease ISO RGD:1343704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787224 Dhps deoxyhypusine synthase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8787224 Dhps deoxyhypusine synthase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8787224 Dhps deoxyhypusine synthase gene DOID:0111254 glutaric acidemia I ISO RGD:1602903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8787224 Dhps deoxyhypusine synthase gene DOID:3413 alpha-mannosidosis ISO RGD:1602903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8787224 Dhps deoxyhypusine synthase gene DOID:630 genetic disease ISO RGD:1602903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8787224 Dhps deoxyhypusine synthase gene DOID:9000463 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment ISO RGD:1602903 D RGD:7240710 20190807 OMIM 8787224 Dhps deoxyhypusine synthase gene DOID:9000463 Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment ISO RGD:1602903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and speech and walking impairment PMID:25741868|PMID:30661771 8787248 Spr sepiapterin reductase gene DOID:0050473 Alstrom syndrome ISO RGD:1346391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 8787248 Spr sepiapterin reductase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1346391 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8787248 Spr sepiapterin reductase gene DOID:0080600 COVID-19 ISO RGD:1346391 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8787248 Spr sepiapterin reductase gene DOID:0090043 dystonia 5 ISO RGD:1346391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia 8787248 Spr sepiapterin reductase gene DOID:0111168 sepiapterin reductase deficiency ISO RGD:1346391 D RGD:7240710 20180130 OMIM 8787248 Spr sepiapterin reductase gene DOID:0111168 sepiapterin reductase deficiency ISO RGD:1346391 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency PMID:10384371|PMID:11443547|PMID:15241655|PMID:16049044|PMID:16650784|PMID:16752391|PMID:16917893|PMID:17159114|PMID:18414213|PMID:18502672|PMID:19130291|PMID:19491146|PMID:21431957|PMID:21677200|PMID:22291068|PMID:22522443|PMID:23430877|PMID:24212389|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:29147684|PMID:31041399|PMID:33098801|PMID:33822819|PMID:35872528|PMID:9700606 8787248 Spr sepiapterin reductase gene DOID:1059 intellectual disability ISO RGD:1346391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 8787248 Spr sepiapterin reductase gene DOID:14330 Parkinson's disease ISO RGD:736908 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 8787248 Spr sepiapterin reductase gene DOID:543 dystonia ISO RGD:1346391 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder PMID:11443547|PMID:16697227|PMID:16752391|PMID:16917893|PMID:17159114|PMID:17576681|PMID:18502672|PMID:19130291|PMID:19491146|PMID:21431957|PMID:21677200|PMID:22522443|PMID:23430877|PMID:23542699|PMID:23640889|PMID:24212389|PMID:24588500|PMID:25741868|PMID:25763508|PMID:28492532|PMID:29116116|PMID:29147684|PMID:30682498|PMID:32581362|PMID:33098801|PMID:33822819|PMID:35872528|PMID:9536098 8787248 Spr sepiapterin reductase gene DOID:543 dystonia susceptibility ISO RGD:1346391 D RGD:9068941 20200609 RGD DNA:deletion, transitions PMID:11443547|REF_RGD_ID:1600054 8787248 Spr sepiapterin reductase gene DOID:630 genetic disease ISO RGD:1346391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22522443|PMID:25741868|PMID:28492532 8787248 Spr sepiapterin reductase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8787266 Rrp12 ribosomal RNA processing 12 homolog gene DOID:630 genetic disease ISO RGD:1343951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220224 RGD PMID:32359697|REF_RGD_ID:151361139 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220225 RGD PMID:24762957|REF_RGD_ID:151361157 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:23801167|REF_RGD_ID:151361213 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:0050872 large cell neuroendocrine carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:18440724|REF_RGD_ID:151361285 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1354186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:27912058 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1354186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:23516127|REF_RGD_ID:151361211 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:0080899 lung pleomorphic carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:30300664|REF_RGD_ID:151361288 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1354186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:10534 stomach cancer ISO RGD:1354186 D RGD:9068941 20220224 RGD protein:increased expression:stomach PMID:29367342|REF_RGD_ID:151361142 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:10534 stomach cancer severity ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:23809372|REF_RGD_ID:151361296 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:1107 esophageal carcinoma severity ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:15906366|REF_RGD_ID:151361282 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:11963 esophagitis ISO RGD:1354186 D RGD:9068941 20220303 RGD protein:increased expression:epithelium PMID:28370814|REF_RGD_ID:151361286 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:14780 KBG syndrome ISO RGD:1354186 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:1996 rectum adenocarcinoma treatment ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:21036745|REF_RGD_ID:151361202 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:219 colon cancer treatment ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:19900191|REF_RGD_ID:151361295 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:2671 transitional cell carcinoma ISO RGD:620639 D RGD:9068941 20220224 RGD protein:increased expression:bladder PMID:28339760|REF_RGD_ID:151361118 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:3042 allergic contact dermatitis ISO RGD:1354186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:3068 glioblastoma disease_progression ISO RGD:1354186 D RGD:9068941 20220224 RGD PMID:16496379|REF_RGD_ID:151361115 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1354186 D RGD:9068941 20220224 RGD PMID:16496379|REF_RGD_ID:151361115 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:3070 high grade glioma ameliorates ISO RGD:620639 D RGD:9068941 20220224 RGD PMID:16496379|REF_RGD_ID:151361115 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:3495 extrahepatic bile duct adenocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:24890221|REF_RGD_ID:151361210 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:3717 gastric adenocarcinoma ISO RGD:1354186 D RGD:9068941 20220303 RGD protein:increased expression:mucosa: PMID:21501294|REF_RGD_ID:151361203 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354186 D RGD:9068941 20220224 RGD protein:increased expression:esophagus PMID:33609949|REF_RGD_ID:151361149 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:26936531|PMID:31726270|REF_RGD_ID:11532833|REF_RGD_ID:151361144 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:3907 lung squamous cell carcinoma ISO RGD:735716 D RGD:9068941 20220225 RGD PMID:19068093|REF_RGD_ID:151361158 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220225 RGD PMID:21187458|REF_RGD_ID:151361159 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:22110199|REF_RGD_ID:151361206 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220225 RGD PMID:19171406|PMID:26279756|REF_RGD_ID:151361150|REF_RGD_ID:151361151 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:4896 bile duct adenocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:24131658|REF_RGD_ID:151361287 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:4897 bile duct carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:24890221|REF_RGD_ID:151361210 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:25475870|REF_RGD_ID:151361214 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:4947 cholangiocarcinoma treatment ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:24131658|PMID:28347255|REF_RGD_ID:151361287|REF_RGD_ID:151361294 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:630 genetic disease ISO RGD:1354186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:620639 D RGD:9068941 20220303 RGD mRNA:increased expression:liver PMID:7532544|REF_RGD_ID:634202 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1354186 D RGD:9068941 20220224 RGD PMID:26389641|REF_RGD_ID:151361140 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:23696029|PMID:26389641|REF_RGD_ID:151361140|REF_RGD_ID:151361280 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:7474 malignant pleural mesothelioma ISO RGD:1354186 D RGD:9068941 20220303 RGD protein:increased expression:pleura PMID:24912849|REF_RGD_ID:151660330 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:22199264|REF_RGD_ID:151361201 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620639 D RGD:9068941 20220225 RGD protein:increased expression:spinal cord PMID:19388351|REF_RGD_ID:151361131 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1354186 D RGD:9068941 20220303 RGD associated with gastric adenocarcinoma;protein:increased expression: : PMID:21501294|REF_RGD_ID:151361203 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:1354186 D RGD:9068941 20220303 RGD associated with stomach carcinoma PMID:25908107|REF_RGD_ID:11052781 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9000918 Disease Progression disease_progression ISO RGD:1354186 D RGD:9068941 20220224 RGD associated with Colorectal Neoplasms PMID:32359697|REF_RGD_ID:151361139 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:19018776|REF_RGD_ID:151361278 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:620639 D RGD:9068941 20220224 RGD mRNA:increased expression:liver PMID:17498859|REF_RGD_ID:151357003 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1354186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1354186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9005172 Lung Neoplasms ISO RGD:1354186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26621329 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9005930 Endotoxemia ISO RGD:620639 D RGD:9068941 20220224 RGD PMID:26337286|REF_RGD_ID:151361133 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:620639 D RGD:9068941 20220224 RGD mRNA:increased expression:right and left ventricles PMID:23794090|REF_RGD_ID:151361111 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9006618 Liver Metastasis severity ISO RGD:620639 D RGD:9068941 20220224 RGD associated with colon adenocarcinoma PMID:11745822|REF_RGD_ID:151361130 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9006618 Liver Metastasis severity ISO RGD:620639 D RGD:9068941 20220224 RGD associated with colon cancer PMID:11718450|REF_RGD_ID:151361129 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620639 D RGD:9068941 20220224 RGD PMID:9200186|REF_RGD_ID:151357001 8787312 Slc7a5 solute carrier family 7 member 5 gene DOID:9256 colorectal cancer severity ISO RGD:1354186 D RGD:9068941 20220303 RGD PMID:29344181|REF_RGD_ID:151361284 8787342 Wdr55 WD repeat domain 55 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1603214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8787342 Wdr55 WD repeat domain 55 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8787342 Wdr55 WD repeat domain 55 gene DOID:630 genetic disease ISO RGD:1603214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787342 Wdr55 WD repeat domain 55 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8787342 Wdr55 WD repeat domain 55 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8787357 Nol4 nucleolar protein 4 gene DOID:1059 intellectual disability ISO RGD:1321698 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8787357 Nol4 nucleolar protein 4 gene DOID:630 genetic disease ISO RGD:1321698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787380 Smap2 small ArfGAP2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8787380 Smap2 small ArfGAP2 gene DOID:630 genetic disease ISO RGD:1601981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787400 Eng endoglin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8787400 Eng endoglin gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile Polyposis PMID:28492532 8787400 Eng endoglin gene DOID:0050855 renal fibrosis ISO RGD:1593188 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; mRNA, protein:increased expression:kidney (rat) PMID:16440600|REF_RGD_ID:7248781 8787400 Eng endoglin gene DOID:0050855 renal fibrosis ISO RGD:1617632 D RGD:9068941 20200609 RGD protein:altered expression:kidney (mouse) PMID:15033991|REF_RGD_ID:7248783 8787400 Eng endoglin gene DOID:0050855 renal fibrosis treatment ISO RGD:1593188 D RGD:9068941 20200609 RGD PMID:15475654|REF_RGD_ID:7248782 8787400 Eng endoglin gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 PMID:12673790|PMID:15879500|PMID:21158752|PMID:23399955|PMID:24055113|PMID:25637381|PMID:25741868|PMID:28492532 8787400 Eng endoglin gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:15879500|PMID:25741868|PMID:28492532|PMID:30120215 8787400 Eng endoglin gene DOID:0060688 arteriovenous malformations of the brain disease_progression ISO RGD:1351093 D RGD:9068941 20200609 RGD DNA:polymorphism: : 207G>A(human) PMID:24876084|REF_RGD_ID:11041171 8787400 Eng endoglin gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8787400 Eng endoglin gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8787400 Eng endoglin gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8787400 Eng endoglin gene DOID:0080718 GNE myopathy ISO RGD:1351093 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:15266205|PMID:17786384|PMID:22022569 8787400 Eng endoglin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8787400 Eng endoglin gene DOID:10283 prostate cancer severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:tumor, vasculature (human) PMID:23262399|REF_RGD_ID:7248770 8787400 Eng endoglin gene DOID:1037 lymphoid leukemia disease_progression ISO RGD:1351093 D RGD:9068941 20200609 RGD PMID:25030442|REF_RGD_ID:11041170 8787400 Eng endoglin gene DOID:10591 pre-eclampsia ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22763474|REF_RGD_ID:7257530 8787400 Eng endoglin gene DOID:10591 pre-eclampsia ISO RGD:1617632 D RGD:9068941 20200609 RGD protein:increased expression:plasma (mouse) PMID:23357179|REF_RGD_ID:7248768 8787400 Eng endoglin gene DOID:10591 pre-eclampsia severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460287|REF_RGD_ID:7248767 8787400 Eng endoglin gene DOID:10591 pre-eclampsia treatment ISO RGD:1593188 D RGD:9068941 20200609 RGD PMID:22308016|REF_RGD_ID:7257524 8787400 Eng endoglin gene DOID:10591 pre-eclampsia treatment ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:20351341|REF_RGD_ID:7248777 8787400 Eng endoglin gene DOID:10763 hypertension ISO RGD:1593188 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (rat) PMID:19829664|REF_RGD_ID:4892132 8787400 Eng endoglin gene DOID:10941 intracranial aneurysm ISO RGD:1351093 D RGD:9068941 20200609 RGD PMID:10223461|REF_RGD_ID:1580964 8787400 Eng endoglin gene DOID:10941 intracranial aneurysm ISO RGD:1351093 D RGD:9068941 20230525 RGD DNA:missense mutation:exon 2:c.179-180CC>AA, p.A60E PMID:19299629|REF_RGD_ID:329845530 8787400 Eng endoglin gene DOID:11294 arteriovenous malformation ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:24520391|REF_RGD_ID:11041564 8787400 Eng endoglin gene DOID:11294 arteriovenous malformation susceptibility ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Telangiectasia, Hereditary Hemorrhagic; PMID:8728706|REF_RGD_ID:11041184 8787400 Eng endoglin gene DOID:12466 secondary hyperparathyroidism ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:parathyroid gland, vasculature (human) PMID:18398016|REF_RGD_ID:7248778 8787400 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30701124|PMID:30763665|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34377910|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 8787400 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:27884767|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30578397|PMID:30665703|PMID:30701124|PMID:30763665|PMID:31019283|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33919892|PMID:34377910|PMID:34872578|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 8787400 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: Osler-Rendu-Weber disease PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:27884767|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30578397|PMID:30665703|PMID:30701124|PMID:30763665|PMID:31019283|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32514857|PMID:32573726|PMID:32581362|PMID:32933640|PMID:33919892|PMID:34377910|PMID:34872578|PMID:35346192|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 8787400 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1351093 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: Osler-Rendu-Weber disease PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10751092|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12667943|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14972453|PMID:15024723|PMID:15115879|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15520401|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576210|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21402931|PMID:21415079|PMID:21967607|PMID:21987708|PMID:22022569|PMID:22192717|PMID:22385575|PMID:22656258|PMID:22722545|PMID:22991266|PMID:23298310|PMID:23300529|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25674101|PMID:25741868|PMID:25760803|PMID:25868896|PMID:25970827|PMID:26167679|PMID:26387786|PMID:26395556|PMID:26811476|PMID:26820968|PMID:27146957|PMID:27260700|PMID:27884767|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29146883|PMID:29171923|PMID:29339534|PMID:29398197|PMID:29483005|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30120215|PMID:30251589|PMID:30578383|PMID:30578397|PMID:30665703|PMID:30701124|PMID:30763665|PMID:30946035|PMID:31019283|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32190976|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32514857|PMID:32573726|PMID:32581362|PMID:32847536|PMID:32933640|PMID:33282178|PMID:33919892|PMID:34377910|PMID:34872578|PMID:34900561|PMID:35346192|PMID:8162075|PMID:8595426|PMID:9157574|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 8787400 Eng endoglin gene DOID:1270 hereditary hemorrhagic telangiectasia no_association ISO RGD:1351093 D RGD:9068941 20200609 RGD PMID:10899246|REF_RGD_ID:11041566 8787400 Eng endoglin gene DOID:13580 cholestasis ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21146604|REF_RGD_ID:7257529 8787400 Eng endoglin gene DOID:14791 Leber congenital amaurosis ISO RGD:1351093 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:32165824|PMID:32573726 8787400 Eng endoglin gene DOID:1485 cystic fibrosis ISO RGD:1351093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30806029 8787400 Eng endoglin gene DOID:1612 breast cancer treatment ISO RGD:1351093 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:11691802|REF_RGD_ID:7248784 8787400 Eng endoglin gene DOID:1909 melanoma treatment ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:23076642|REF_RGD_ID:7248785 8787400 Eng endoglin gene DOID:2987 familial mediterranean fever ISO RGD:1351093 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Periodic disease PMID:25326637|PMID:25741868|PMID:28492532 8787400 Eng endoglin gene DOID:3082 interstitial lung disease ISO RGD:1351093 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:25741868|PMID:28492532 8787400 Eng endoglin gene DOID:3393 coronary artery disease severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21667051|REF_RGD_ID:7248776 8787400 Eng endoglin gene DOID:3525 middle cerebral artery infarction ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:24876084|REF_RGD_ID:11041171 8787400 Eng endoglin gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, tumor (human) PMID:16536758|REF_RGD_ID:7248780 8787400 Eng endoglin gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:tumor, vasculature (human) PMID:22204709|REF_RGD_ID:7248775 8787400 Eng endoglin gene DOID:6000 congestive heart failure ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:20156938|REF_RGD_ID:7257540 8787400 Eng endoglin gene DOID:6000 congestive heart failure treatment ISO RGD:1593188 D RGD:9068941 20200609 RGD PMID:20156938|REF_RGD_ID:7257540 8787400 Eng endoglin gene DOID:630 genetic disease ISO RGD:1351093 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15517393|PMID:15879500|PMID:25741868|PMID:28231770|PMID:28492532 8787400 Eng endoglin gene DOID:6432 pulmonary hypertension ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:20042709|REF_RGD_ID:11041178 8787400 Eng endoglin gene DOID:684 hepatocellular carcinoma ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:20368095|REF_RGD_ID:7257538 8787400 Eng endoglin gene DOID:8947 diabetic retinopathy ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body PMID:16202216|REF_RGD_ID:1580961 8787400 Eng endoglin gene DOID:9000808 Hypercholesterolemia ISO RGD:1617632 D RGD:9068941 20200609 RGD protein:increased expression, aortic root, aortic arch, endothelium (mouse) PMID:17901886|REF_RGD_ID:7257552 8787400 Eng endoglin gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:17901886|REF_RGD_ID:7257552 8787400 Eng endoglin gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:22151990|REF_RGD_ID:7257525 8787400 Eng endoglin gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1617632 D RGD:9068941 20200609 RGD kidney PMID:23022174|REF_RGD_ID:7248771 8787400 Eng endoglin gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression: serum PMID:18985316|REF_RGD_ID:2313806 8787400 Eng endoglin gene DOID:9001227 Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related ISO RGD:1351093 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PMID:14684682|PMID:15024723|PMID:15115879|PMID:15687131|PMID:15879500|PMID:18156574|PMID:20656886|PMID:22385575|PMID:23919827|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32573726 8787400 Eng endoglin gene DOID:9001600 Wounds and Injuries disease_progression ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:23349951|REF_RGD_ID:7248769 8787400 Eng endoglin gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1351093 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:10625079|PMID:15517393|PMID:15521985|PMID:15879500|PMID:16705692|PMID:17384219|PMID:17786384|PMID:18498373|PMID:19270816|PMID:21158752|PMID:22991266|PMID:23298310|PMID:23722869|PMID:24033266|PMID:25741868|PMID:25970827|PMID:26167679|PMID:26387786|PMID:28492532|PMID:29650961|PMID:30029678|PMID:31727138|PMID:32503579|PMID:32514857|PMID:32573726|PMID:32581362|PMID:32933640|PMID:33919892|PMID:34872578 8787400 Eng endoglin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351093 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; mRNA:increased expression:kidney PMID:19395281|REF_RGD_ID:2313795 8787400 Eng endoglin gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1351093 D RGD:7240710 20180130 OMIM 8787400 Eng endoglin gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1351093 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:10545596|PMID:10625079|PMID:10702408|PMID:10749981|PMID:10982033|PMID:11343967|PMID:11440987|PMID:11793473|PMID:12673790|PMID:12786761|PMID:12920067|PMID:14526373|PMID:14684682|PMID:15024723|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15849752|PMID:15879500|PMID:15880681|PMID:15907823|PMID:15993872|PMID:16164574|PMID:16199547|PMID:16287957|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16542389|PMID:16690726|PMID:16705692|PMID:16752392|PMID:16754821|PMID:17384219|PMID:17525106|PMID:17576681|PMID:17719943|PMID:17786384|PMID:18495117|PMID:18498373|PMID:18607909|PMID:18673552|PMID:19270816|PMID:19299629|PMID:19508727|PMID:19767588|PMID:20412114|PMID:20414677|PMID:20656886|PMID:20719417|PMID:20813596|PMID:20824275|PMID:21158752|PMID:21415079|PMID:21967607|PMID:22022569|PMID:22192717|PMID:22347366|PMID:22385575|PMID:22656258|PMID:22991266|PMID:23298310|PMID:23300529|PMID:23399955|PMID:23535011|PMID:23710379|PMID:23722869|PMID:23801935|PMID:23805858|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24267784|PMID:24603890|PMID:24921008|PMID:25080347|PMID:25312062|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25674101|PMID:25741868|PMID:25970827|PMID:2601709|PMID:26167679|PMID:26387786|PMID:26811476|PMID:27146957|PMID:27884767|PMID:28231770|PMID:28492532|PMID:28564608|PMID:28655553|PMID:28989145|PMID:29171923|PMID:29398197|PMID:29483005|PMID:29650961|PMID:29743074|PMID:30029678|PMID:30073140|PMID:30251589|PMID:30374176|PMID:30665703|PMID:30701124|PMID:31019283|PMID:31400083|PMID:31455059|PMID:31630786|PMID:31727138|PMID:32165824|PMID:32300199|PMID:32303606|PMID:32503579|PMID:32514857|PMID:32573726|PMID:32581362|PMID:32933640|PMID:33919892|PMID:34008892|PMID:34377910|PMID:34872578|PMID:34900561|PMID:7894484|PMID:8162075|PMID:9245986|PMID:9366572|PMID:9536098|PMID:9554745 8787400 Eng endoglin gene DOID:9003845 Stress Fractures disease_progression ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:ulna, vasculature (rat) PMID:23044046|REF_RGD_ID:7248788 8787400 Eng endoglin gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oral cavity telangiectasia PMID:25741868 8787400 Eng endoglin gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:20042709|REF_RGD_ID:11041178 8787400 Eng endoglin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1593188 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:16751653|REF_RGD_ID:7248779 8787400 Eng endoglin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:16751653|REF_RGD_ID:7248779 8787400 Eng endoglin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1593188 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21146604|REF_RGD_ID:7257529 8787400 Eng endoglin gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1351093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Moyamoya disease 2 PMID:25741868 8787400 Eng endoglin gene DOID:9008421 Epistaxis ISO RGD:1351093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis PMID:15879500|PMID:16542389|PMID:28492532|PMID:30251589 8787400 Eng endoglin gene DOID:9008939 Breast Neoplasms treatment ISO RGD:1617632 D RGD:9068941 20200609 RGD PMID:21431419|REF_RGD_ID:7257526 8787400 Eng endoglin gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1351093 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:10625079|PMID:15517393|PMID:15521985|PMID:15879500|PMID:16690726|PMID:16705692|PMID:16754821|PMID:17384219|PMID:17786384|PMID:18498373|PMID:19270816|PMID:21158752|PMID:22991266|PMID:23298310|PMID:23722869|PMID:24033266|PMID:25741868|PMID:25970827|PMID:26167679|PMID:26387786|PMID:28492532|PMID:29650961|PMID:30029678|PMID:30665703|PMID:31019283|PMID:31727138|PMID:32503579|PMID:32514857|PMID:32573726|PMID:32581362|PMID:32933640|PMID:33919892|PMID:34872578 8787400 Eng endoglin gene DOID:9074 systemic lupus erythematosus ISO RGD:1351093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:17576681|PMID:28492532|PMID:32190976|PMID:9536098 8787400 Eng endoglin gene DOID:9538 multiple myeloma severity ISO RGD:1351093 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23576184|REF_RGD_ID:11041181 8787400 Eng endoglin gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1351093 D RGD:9068941 20200609 RGD PMID:17572488|REF_RGD_ID:11041565 8787425 Pcolce2 procollagen C-endopeptidase enhancer 2 gene DOID:630 genetic disease ISO RGD:1346123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787425 Pcolce2 procollagen C-endopeptidase enhancer 2 gene DOID:670 amphetamine abuse ISO RGD:1346123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8787441 Slc24a2 solute carrier family 24 member 2 gene DOID:630 genetic disease ISO RGD:730928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787459 Spata21 spermatogenesis associated 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602628 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8787459 Spata21 spermatogenesis associated 21 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8787459 Spata21 spermatogenesis associated 21 gene DOID:630 genetic disease ISO RGD:1602628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787459 Spata21 spermatogenesis associated 21 gene DOID:9007188 Liver Neoplasms ISO RGD:1602628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8787493 Bnip1 BCL2 interacting protein 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:732440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8787493 Bnip1 BCL2 interacting protein 1 gene DOID:14250 Down syndrome ISO RGD:732440 D RGD:9068941 20200609 RGD mRNA:decreased expression:amniotic fluid cell: PMID:15716609|REF_RGD_ID:14398459 8787493 Bnip1 BCL2 interacting protein 1 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:732440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:25741868 8787493 Bnip1 BCL2 interacting protein 1 gene DOID:630 genetic disease ISO RGD:732440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787493 Bnip1 BCL2 interacting protein 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:732440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8787504 Tbc1d9b TBC1 domain family member 9B gene DOID:630 genetic disease ISO RGD:1604633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787536 Lpin3 lipin 3 gene DOID:2234 focal epilepsy ISO RGD:1342644 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8787536 Lpin3 lipin 3 gene DOID:630 genetic disease ISO RGD:1342644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787567 Vwa5a von Willebrand factor A domain containing 5A gene DOID:0110877 holoprosencephaly 11 ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8787567 Vwa5a von Willebrand factor A domain containing 5A gene DOID:5419 schizophrenia ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8787567 Vwa5a von Willebrand factor A domain containing 5A gene DOID:630 genetic disease ISO RGD:1323359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787567 Vwa5a von Willebrand factor A domain containing 5A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8787567 Vwa5a von Willebrand factor A domain containing 5A gene DOID:9007661 Dwarfism ISO RGD:1323359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8787595 Tmem213 transmembrane protein 213 gene DOID:0080690 RASopathy ISO RGD:2293900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8787595 Tmem213 transmembrane protein 213 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2293900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8787595 Tmem213 transmembrane protein 213 gene DOID:630 genetic disease ISO RGD:2293900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787595 Tmem213 transmembrane protein 213 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:2293900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:0080011 bone resorption disease ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26319416 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:0110943 autosomal recessive osteopetrosis 2 ISO RGD:1347343 D RGD:7240710 20180130 OMIM 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:0110943 autosomal recessive osteopetrosis 2 ISO RGD:1347343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor PMID:17632511|PMID:20499338|PMID:21541994|PMID:23762088|PMID:25741868|PMID:28492532 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:11476 osteoporosis ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17882678 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:11476 osteoporosis ISO RGD:1347343 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:12678 hypercalcemia ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15845617 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:12800 mucopolysaccharidosis VI treatment ISO RGD:620784 D RGD:9068941 20210514 RGD PMID:21887218|REF_RGD_ID:39131283 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:13533 osteopetrosis ISO RGD:1347343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:4254 osteosclerosis ISO RGD:1347343 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:20499338|PMID:21541994|PMID:25741868|PMID:28492532 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:5844 myocardial infarction ISO RGD:1347343 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18298349|REF_RGD_ID:2302363 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:630 genetic disease ISO RGD:1347343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:820 myocarditis ISO RGD:620784 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium PMID:18417124|REF_RGD_ID:2302361 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:9000927 Alveolar Bone Loss ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19249596 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:620784 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:9001004 Chronic Periodontitis ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731768 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:9001547 Tibial Fractures ISO RGD:620784 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18592139|REF_RGD_ID:2302324 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16270354 8787602 Tnfsf11 TNF superfamily member 11 gene DOID:9006081 Osteolysis ISO RGD:1347343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18606716 8787626 Marchf6 membrane associated ring-CH-type finger 6 gene DOID:0111695 familial adult myoclonic epilepsy 3 ISO RGD:1343716 D RGD:7240710 20191127 OMIM 8787626 Marchf6 membrane associated ring-CH-type finger 6 gene DOID:0111695 familial adult myoclonic epilepsy 3 ISO RGD:1343716 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 8787626 Marchf6 membrane associated ring-CH-type finger 6 gene DOID:630 genetic disease ISO RGD:1343716 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787657 Fam136a family with sequence similarity 136 member A gene DOID:630 genetic disease ISO RGD:1605923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787657 Fam136a family with sequence similarity 136 member A gene DOID:9849 Meniere's disease ISO RGD:1605923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25305078 8787685 Hoxa11 homeobox A11 gene DOID:2213 hemorrhagic disease ISO RGD:735680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8787685 Hoxa11 homeobox A11 gene DOID:2256 osteochondrodysplasia ISO RGD:735680 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35253374 8787685 Hoxa11 homeobox A11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8787685 Hoxa11 homeobox A11 gene DOID:557 kidney disease ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7596412 8787685 Hoxa11 homeobox A11 gene DOID:630 genetic disease ISO RGD:735680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787685 Hoxa11 homeobox A11 gene DOID:9001611 Urogenital Abnormalities ISO RGD:735680 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Inherited genitourinary tract anomalies PMID:32666543 8787685 Hoxa11 homeobox A11 gene DOID:9002496 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 8787685 Hoxa11 homeobox A11 gene DOID:9002739 Female Urogenital Diseases ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8787685 Hoxa11 homeobox A11 gene DOID:9004998 Kyphoscoliosis ISO RGD:1564605 D RGD:9068941 20200609 RGD mRNA:decreased expression:verterbra PMID:18327665|REF_RGD_ID:11354896 8787685 Hoxa11 homeobox A11 gene DOID:9006251 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 ISO RGD:735680 D RGD:7240710 20190320 OMIM 8787685 Hoxa11 homeobox A11 gene DOID:9006251 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 ISO RGD:735680 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 PMID:11101832|PMID:25741868 8787685 Hoxa11 homeobox A11 gene DOID:9006294 Congenital Limb Deformities ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7596412 8787685 Hoxa11 homeobox A11 gene DOID:9006836 Contracture ISO RGD:735680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8787685 Hoxa11 homeobox A11 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 8787685 Hoxa11 homeobox A11 gene DOID:9827 radioulnar synostosis ISO RGD:735680 D RGD:9068941 20200609 RGD PMID:11101832|REF_RGD_ID:11353968 8787693 Chi3l1 chitinase 3 like 1 gene DOID:0050685 small cell carcinoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:15541818|REF_RGD_ID:4892640 8787693 Chi3l1 chitinase 3 like 1 gene DOID:0080199 colorectal carcinoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:12124825|REF_RGD_ID:4892637 8787693 Chi3l1 chitinase 3 like 1 gene DOID:0080600 COVID-19 ISO RGD:732419 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8787693 Chi3l1 chitinase 3 like 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8787693 Chi3l1 chitinase 3 like 1 gene DOID:10286 prostate carcinoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16372331|REF_RGD_ID:4892641 8787693 Chi3l1 chitinase 3 like 1 gene DOID:10591 pre-eclampsia ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:umbilical cord, serum (human) PMID:18054022|REF_RGD_ID:4892664 8787693 Chi3l1 chitinase 3 like 1 gene DOID:10763 hypertension ISO RGD:620874 D RGD:9068941 20200609 RGD mRNA:increased expression:brainstem, solitary tract nucleus (rat) PMID:18703386|REF_RGD_ID:4892597 8787693 Chi3l1 chitinase 3 like 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:732419 D RGD:9068941 20200609 RGD protein:decreased secretion:lung, secretion (human) PMID:20558631|REF_RGD_ID:4892651 8787693 Chi3l1 chitinase 3 like 1 gene DOID:13375 temporal arteritis ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:10616010|REF_RGD_ID:5024918 8787693 Chi3l1 chitinase 3 like 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:15763444|REF_RGD_ID:4892634 8787693 Chi3l1 chitinase 3 like 1 gene DOID:1380 endometrial cancer severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:17023034|REF_RGD_ID:4892642 8787693 Chi3l1 chitinase 3 like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8787693 Chi3l1 chitinase 3 like 1 gene DOID:1612 breast cancer severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:12889595|REF_RGD_ID:4892603 8787693 Chi3l1 chitinase 3 like 1 gene DOID:1909 melanoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16456816|REF_RGD_ID:4892643 8787693 Chi3l1 chitinase 3 like 1 gene DOID:2349 arteriosclerosis ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased expression:artery, plaque, macrophage (human) PMID:10073974|REF_RGD_ID:4892604 8787693 Chi3l1 chitinase 3 like 1 gene DOID:2394 ovarian cancer severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:12883737|REF_RGD_ID:4892638 8787693 Chi3l1 chitinase 3 like 1 gene DOID:2841 asthma ISO RGD:732419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 7 PMID:18403759 8787693 Chi3l1 chitinase 3 like 1 gene DOID:2841 asthma susceptibility ISO RGD:732419 D RGD:7240710 20190502 OMIM 8787693 Chi3l1 chitinase 3 like 1 gene DOID:3068 glioblastoma ISO RGD:732419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21029458 8787693 Chi3l1 chitinase 3 like 1 gene DOID:3068 glioblastoma ISO RGD:732419 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, tumor (human) PMID:11161003|REF_RGD_ID:4892621 8787693 Chi3l1 chitinase 3 like 1 gene DOID:3070 high grade glioma ISO RGD:732419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20506295 8787693 Chi3l1 chitinase 3 like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:20656949|REF_RGD_ID:4892658 8787693 Chi3l1 chitinase 3 like 1 gene DOID:3371 chondrosarcoma ISO RGD:732419 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:12598313|REF_RGD_ID:4892624 8787693 Chi3l1 chitinase 3 like 1 gene DOID:3393 coronary artery disease ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:17627189|REF_RGD_ID:4892665 8787693 Chi3l1 chitinase 3 like 1 gene DOID:3770 pulmonary fibrosis severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum, lung (human) PMID:20888745|REF_RGD_ID:4892653 8787693 Chi3l1 chitinase 3 like 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:20564116|REF_RGD_ID:4892660 8787693 Chi3l1 chitinase 3 like 1 gene DOID:418 systemic scleroderma ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16195162|REF_RGD_ID:4892666 8787693 Chi3l1 chitinase 3 like 1 gene DOID:5419 schizophrenia ISO RGD:732419 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 8787693 Chi3l1 chitinase 3 like 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:732419 D RGD:7240710 20230505 OMIM 8787693 Chi3l1 chitinase 3 like 1 gene DOID:5844 myocardial infarction ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:18480670|REF_RGD_ID:4892633 8787693 Chi3l1 chitinase 3 like 1 gene DOID:6000 congestive heart failure ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:19961288|REF_RGD_ID:4892629 8787693 Chi3l1 chitinase 3 like 1 gene DOID:630 genetic disease ISO RGD:732419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787693 Chi3l1 chitinase 3 like 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:10461474|REF_RGD_ID:4892605 8787693 Chi3l1 chitinase 3 like 1 gene DOID:8398 osteoarthritis ISO RGD:732419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8787693 Chi3l1 chitinase 3 like 1 gene DOID:850 lung disease ISO RGD:1552317 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20558631|REF_RGD_ID:4892651 8787693 Chi3l1 chitinase 3 like 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:10515841|REF_RGD_ID:4892626 8787693 Chi3l1 chitinase 3 like 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732419 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8787693 Chi3l1 chitinase 3 like 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:732419 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:11752453|REF_RGD_ID:4892620 8787693 Chi3l1 chitinase 3 like 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21029458 8787693 Chi3l1 chitinase 3 like 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16361549|REF_RGD_ID:4892644 8787693 Chi3l1 chitinase 3 like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8787693 Chi3l1 chitinase 3 like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:21143859|REF_RGD_ID:4892628 8787693 Chi3l1 chitinase 3 like 1 gene DOID:9470 bacterial meningitis severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:cerebrospinal fluid (human) PMID:11986266|REF_RGD_ID:4892662 8787693 Chi3l1 chitinase 3 like 1 gene DOID:9538 multiple myeloma severity ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:16930142|REF_RGD_ID:4892645 8787693 Chi3l1 chitinase 3 like 1 gene DOID:9675 pulmonary emphysema ISO RGD:1552317 D RGD:9068941 20200609 RGD PMID:20656949|REF_RGD_ID:4892658 8787693 Chi3l1 chitinase 3 like 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732419 D RGD:9068941 20200609 RGD protein:increased secretion:serum (human) PMID:18957531|REF_RGD_ID:4892627 8787706 Pgap2 post-GPI attachment to proteins 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8787706 Pgap2 post-GPI attachment to proteins 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8787706 Pgap2 post-GPI attachment to proteins 2 gene DOID:0060327 omphalocele ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 8787706 Pgap2 post-GPI attachment to proteins 2 gene DOID:0060354 Stormorken syndrome ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:28492532 8787706 Pgap2 post-GPI attachment to proteins 2 gene DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 ISO RGD:733101 D RGD:7240710 20180130 OMIM 8787706 Pgap2 post-GPI attachment to proteins 2 gene DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 ISO RGD:733101 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 PMID:21629298|PMID:2164379|PMID:21643797|PMID:23561846|PMID:23561847|PMID:25741868|PMID:25741869 8787706 Pgap2 post-GPI attachment to proteins 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:733101 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8787706 Pgap2 post-GPI attachment to proteins 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8787706 Pgap2 post-GPI attachment to proteins 2 gene DOID:630 genetic disease ISO RGD:733101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23561847|PMID:25741868|PMID:28492532|PMID:9536098 8787706 Pgap2 post-GPI attachment to proteins 2 gene DOID:9005616 Micrognathism ISO RGD:733101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606462 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606462 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:0111996 immunodeficiency 51 ISO RGD:1606462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:1059 intellectual disability ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1606462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:11372 megacolon ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:12583 velocardiofacial syndrome ISO RGD:1606462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:12849 autistic disorder ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:1826 epilepsy ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:5419 schizophrenia ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:612 primary immunodeficiency disease ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8787743 CUNH22orf39 chromosome unknown C22orf39 homolog gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8787750 Trmt1l tRNA methyltransferase 1 like gene DOID:11372 megacolon ISO RGD:1317348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8787750 Trmt1l tRNA methyltransferase 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1317348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8787750 Trmt1l tRNA methyltransferase 1 like gene DOID:630 genetic disease ISO RGD:1317348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787750 Trmt1l tRNA methyltransferase 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8787782 Tctn3 tectonic family member 3 gene DOID:0050777 Joubert syndrome ISO RGD:1313033 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:25741868|PMID:28492532 8787782 Tctn3 tectonic family member 3 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1313033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 8787782 Tctn3 tectonic family member 3 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:1313033 D RGD:7240710 20180130 OMIM 8787782 Tctn3 tectonic family member 3 gene DOID:0060374 orofaciodigital syndrome IV ISO RGD:1313033 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME | ClinVar Annotator: match by term: Orofacial-digital syndrome IV PMID:16199547|PMID:17576681|PMID:22883145|PMID:24033266|PMID:25118024|PMID:25741868|PMID:26092869|PMID:2692869|PMID:27377014|PMID:28333917|PMID:28492532|PMID:28771248|PMID:33098376|PMID:9536098 8787782 Tctn3 tectonic family member 3 gene DOID:0110987 Joubert Syndrome 18 ISO RGD:1313033 D RGD:7240710 20180130 OMIM 8787782 Tctn3 tectonic family member 3 gene DOID:0110987 Joubert Syndrome 18 ISO RGD:1313033 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome 18 PMID:22883145|PMID:25118024|PMID:25741868|PMID:26092869|PMID:2692869|PMID:27377014|PMID:28492532|PMID:28771248 8787782 Tctn3 tectonic family member 3 gene DOID:2843 long QT syndrome ISO RGD:1313033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8787782 Tctn3 tectonic family member 3 gene DOID:630 genetic disease ISO RGD:1313033 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22883145|PMID:25118024|PMID:25741868|PMID:2692869|PMID:28492532 8787782 Tctn3 tectonic family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1313033 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8787801 Top3b DNA topoisomerase III beta gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 8787801 Top3b DNA topoisomerase III beta gene DOID:11198 DiGeorge syndrome ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8787801 Top3b DNA topoisomerase III beta gene DOID:12849 autistic disorder ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8787801 Top3b DNA topoisomerase III beta gene DOID:5419 schizophrenia ISO RGD:1319825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8787801 Top3b DNA topoisomerase III beta gene DOID:630 genetic disease ISO RGD:1319825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787858 Cdk10 cyclin dependent kinase 10 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8787858 Cdk10 cyclin dependent kinase 10 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1312526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8787858 Cdk10 cyclin dependent kinase 10 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1312526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 8787858 Cdk10 cyclin dependent kinase 10 gene DOID:13636 Fanconi anemia ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8787858 Cdk10 cyclin dependent kinase 10 gene DOID:14780 KBG syndrome ISO RGD:1312526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 8787858 Cdk10 cyclin dependent kinase 10 gene DOID:630 genetic disease ISO RGD:1312526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26539891|PMID:29130579 8787858 Cdk10 cyclin dependent kinase 10 gene DOID:9003087 Al Kaissi Syndrome ISO RGD:1312526 D RGD:7240710 20190315 OMIM 8787858 Cdk10 cyclin dependent kinase 10 gene DOID:9003087 Al Kaissi Syndrome ISO RGD:1312526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Al Kaissi syndrome PMID:25741868|PMID:26539891|PMID:28886341|PMID:29130579 8787858 Cdk10 cyclin dependent kinase 10 gene DOID:9008086 Developmental Disabilities ISO RGD:1312526 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8787895 Nog noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:9068941 20201022 RGD PMID:10080184|REF_RGD_ID:1600234 8787895 Nog noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:9068941 20201022 RGD DNA:missense mutation:cds:c.499C>T(p.R167C)human PMID:24326127|REF_RGD_ID:12801479 8787895 Nog noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:9068941 20201022 RGD DNA:mutations:cds:g.551G>A (p.C184Y),g.386T>A (p.L129X),g.58delC(human) PMID:11846737|REF_RGD_ID:12801455 8787895 Nog noggin gene DOID:0050788 proximal symphalangism ISO RGD:735776 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism 8787895 Nog noggin gene DOID:0050789 tarsal-carpal coalition syndrome ISO RGD:735776 D RGD:7240710 20180130 OMIM 8787895 Nog noggin gene DOID:0050789 tarsal-carpal coalition syndrome ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome PMID:10080184|PMID:11545688|PMID:17245852|PMID:17668388|PMID:25741868|PMID:28492532|PMID:29159868|PMID:4019538|PMID:7557985 8787895 Nog noggin gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:17260385|REF_RGD_ID:12801454 8787895 Nog noggin gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:10989 D RGD:9068941 20220825 MouseDO OMIM:189960 8787895 Nog noggin gene DOID:0080600 COVID-19 ISO RGD:735776 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8787895 Nog noggin gene DOID:0080787 proximal symphalangism 1 ISO RGD:735776 D RGD:7240710 20201021 OMIM 8787895 Nog noggin gene DOID:0080787 proximal symphalangism 1 ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proximal symphalangism 1A PMID:10080184|PMID:11160400|PMID:11545688|PMID:11846737|PMID:11857750|PMID:17245852|PMID:17668388|PMID:18440889|PMID:25741868|PMID:28492532|PMID:7557985|PMID:9851982 8787895 Nog noggin gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735776 D RGD:7240710 20180130 OMIM 8787895 Nog noggin gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:735776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome PMID:10080184|PMID:11846737|PMID:15770128|PMID:16532400|PMID:17609215|PMID:20503332|PMID:25741868|PMID:3667255|PMID:6638061 8787895 Nog noggin gene DOID:0110975 brachydactyly type B2 ISO RGD:735776 D RGD:7240710 20180130 OMIM 8787895 Nog noggin gene DOID:0110975 brachydactyly type B2 ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type B2 PMID:11160400|PMID:11857750|PMID:17668388|PMID:18440889|PMID:25741868|PMID:28492532|PMID:29159868|PMID:34008892|PMID:9851982 8787895 Nog noggin gene DOID:0110975 brachydactyly type B2 no_association ISO RGD:735776 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G92E(human) PMID:22529972|REF_RGD_ID:12801483 8787895 Nog noggin gene DOID:0110980 Joubert syndrome 1 ISO RGD:735776 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8787895 Nog noggin gene DOID:10652 Alzheimer's disease ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:19463786|REF_RGD_ID:10414082 8787895 Nog noggin gene DOID:11476 osteoporosis ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:12975477|REF_RGD_ID:10414323 8787895 Nog noggin gene DOID:12556 acute kidney tubular necrosis ISO RGD:3183 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury PMID:16284088|REF_RGD_ID:1601494 8787895 Nog noggin gene DOID:12858 Huntington's disease treatment ISO RGD:735776 D RGD:9068941 20200609 RGD PMID:17885687|REF_RGD_ID:10415531 8787895 Nog noggin gene DOID:2340 craniosynostosis treatment ISO RGD:735776 D RGD:9068941 20200609 RGD PMID:19627528|REF_RGD_ID:8547554 8787895 Nog noggin gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:735776 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:mononuclear cell" PMID:21111488|REF_RGD_ID:12801480 8787895 Nog noggin gene DOID:5394 prolactinoma ISO RGD:10989 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pituitary PMID:12552124|REF_RGD_ID:629544 8787895 Nog noggin gene DOID:630 genetic disease ISO RGD:735776 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16532400|PMID:25241334|PMID:28492532 8787895 Nog noggin gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:18221366|REF_RGD_ID:10429192 8787895 Nog noggin gene DOID:9001240 Peripheral Nerve Injuries treatment ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:17258709|REF_RGD_ID:10428775 8787895 Nog noggin gene DOID:9003483 Conductive Hearing Loss ISO RGD:10989 D RGD:9068941 20200609 RGD PMID:18096605|REF_RGD_ID:12801451 8787895 Nog noggin gene DOID:9004791 Stapes Ankylosis with Broad Thumbs and Toes ISO RGD:735776 D RGD:7240710 20200311 OMIM 8787895 Nog noggin gene DOID:9004791 Stapes Ankylosis with Broad Thumbs and Toes ISO RGD:735776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes PMID:10069712|PMID:11160400|PMID:11857750|PMID:12089654|PMID:17668388|PMID:18440889|PMID:26474326|PMID:28492532|PMID:9851982 8787895 Nog noggin gene DOID:9005616 Micrognathism ISO RGD:735776 D RGD:9068941 20200609 RGD DNA:SNP:rs1348322(human) PMID:20645637|REF_RGD_ID:12801465 8787895 Nog noggin gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:3183 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung: PMID:25740156|REF_RGD_ID:12801489 8787895 Nog noggin gene DOID:9296 cleft lip susceptibility ISO RGD:735776 D RGD:9068941 20200609 RGD DNA:SNP: : rs227727 (human) PMID:25704602|REF_RGD_ID:11251786 8787895 Nog noggin gene DOID:9296 cleft lip susceptibility ISO RGD:735776 D RGD:9068941 20200609 RGD DNA:SNP: :rs227731(human) PMID:25339627|REF_RGD_ID:12801482 8787895 Nog noggin gene DOID:9352 type 2 diabetes mellitus ISO RGD:10989 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:21193740|REF_RGD_ID:10430114 8787895 Nog noggin gene DOID:9352 type 2 diabetes mellitus ISO RGD:3183 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:21193740|REF_RGD_ID:10430114 8787895 Nog noggin gene DOID:9744 type 1 diabetes mellitus ISO RGD:10989 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:21193740|REF_RGD_ID:10430114 8787895 Nog noggin gene DOID:9834 hyperopia ISO RGD:735776 D RGD:9068941 20200609 RGD associated with Multiple Synostoses Syndrome 1; DNA:mutation:cds:1426G>C (P.W205C)(Human) PMID:16151340|REF_RGD_ID:12801467 8787900 Poc1b POC1 centriolar protein B gene DOID:0050572 cone-rod dystrophy ISO RGD:1350683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 8787900 Poc1b POC1 centriolar protein B gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1621944 D RGD:9068941 20231005 MouseDO 8787900 Poc1b POC1 centriolar protein B gene DOID:0111026 cone-rod dystrophy 20 ISO RGD:1350683 D RGD:7240710 20180130 OMIM 8787900 Poc1b POC1 centriolar protein B gene DOID:0111026 cone-rod dystrophy 20 ISO RGD:1350683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 20 PMID:17576681|PMID:24945461|PMID:25018096|PMID:25044745|PMID:25741868|PMID:28492532|PMID:29220607|PMID:32244552|PMID:34065499|PMID:9536098 8787900 Poc1b POC1 centriolar protein B gene DOID:630 genetic disease ISO RGD:1350683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8787900 Poc1b POC1 centriolar protein B gene DOID:8501 fundus dystrophy ISO RGD:1350683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25018096|PMID:28492532|PMID:29220607 8787900 Poc1b POC1 centriolar protein B gene DOID:9007491 Childhood Schizophrenia ISO RGD:1350683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8787920 Rai1 retinoic acid induced 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1318304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8787920 Rai1 retinoic acid induced 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981775 8787920 Rai1 retinoic acid induced 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318304 D RGD:7240710 20180130 OMIM 8787920 Rai1 retinoic acid induced 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318304 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:12652298|PMID:15788730|PMID:21857958|PMID:22578325|PMID:24033266|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28135719|PMID:28166811|PMID:28492532|PMID:29758562|PMID:31690835 8787920 Rai1 retinoic acid induced 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318304 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:12652298|PMID:15788730|PMID:21857958|PMID:22578325|PMID:24033266|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28135719|PMID:28166811|PMID:28492532|PMID:29758562|PMID:31690835|PMID:35887114 8787920 Rai1 retinoic acid induced 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1318304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8787920 Rai1 retinoic acid induced 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1318304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8787920 Rai1 retinoic acid induced 1 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1318304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868|PMID:27082237|PMID:28492532 8787920 Rai1 retinoic acid induced 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1318304 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8787920 Rai1 retinoic acid induced 1 gene DOID:1059 intellectual disability ISO RGD:1318304 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25167861|PMID:25741868|PMID:28492532 8787920 Rai1 retinoic acid induced 1 gene DOID:12849 autistic disorder ISO RGD:1318304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8787920 Rai1 retinoic acid induced 1 gene DOID:1909 melanoma ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8787920 Rai1 retinoic acid induced 1 gene DOID:2030 anxiety disorder ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18285828 8787920 Rai1 retinoic acid induced 1 gene DOID:630 genetic disease ISO RGD:1318304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21857958|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28057753|PMID:28166811|PMID:28492532|PMID:29458409|PMID:8841119 8787920 Rai1 retinoic acid induced 1 gene DOID:9001366 Psychomotor Agitation ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18285828 8787920 Rai1 retinoic acid induced 1 gene DOID:9002111 Dyssomnias ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19752160 8787920 Rai1 retinoic acid induced 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19116176 8787920 Rai1 retinoic acid induced 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318304 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8787920 Rai1 retinoic acid induced 1 gene DOID:9006257 Growth Disorders ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18285828 8787920 Rai1 retinoic acid induced 1 gene DOID:9008582 Developmental Disease ISO RGD:1318304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8787920 Rai1 retinoic acid induced 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19116176 8787920 Rai1 retinoic acid induced 1 gene DOID:9970 obesity ISO RGD:1318304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15459175|PMID:19116176 8787949 Ednrb endothelin receptor type B gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:32747562 8787949 Ednrb endothelin receptor type B gene DOID:0050600 ABCD syndrome ISO RGD:736090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ABCD syndrome PMID:10528251|PMID:11891690|PMID:20127975|PMID:24033266|PMID:25741868|PMID:26100139|PMID:26467025|PMID:28492532|PMID:30394532|PMID:7778600|PMID:8001159 8787949 Ednrb endothelin receptor type B gene DOID:0050600 ABCD syndrome susceptibility ISO RGD:736090 D RGD:7240710 20240313 OMIM 8787949 Ednrb endothelin receptor type B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8787949 Ednrb endothelin receptor type B gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant PMID:10090908|PMID:10874640|PMID:16145050|PMID:16954478|PMID:19320733|PMID:20009762|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29407415|PMID:8852659 8787949 Ednrb endothelin receptor type B gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:10090908|PMID:10874640|PMID:16145050|PMID:16954478|PMID:19320733|PMID:20009762|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29407415|PMID:8852659 8787949 Ednrb endothelin receptor type B gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:736090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4A PMID:10090908|PMID:10458491|PMID:10528251|PMID:10664228|PMID:10874640|PMID:11891690|PMID:14633923|PMID:16145050|PMID:16944573|PMID:16954478|PMID:17011274|PMID:18162831|PMID:19320733|PMID:20009762|PMID:20127975|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29407415|PMID:30303587|PMID:30311386|PMID:30394532|PMID:32747562|PMID:7778600|PMID:8001158|PMID:8001159|PMID:8634719|PMID:8852659|PMID:8852660 8787949 Ednrb endothelin receptor type B gene DOID:0110953 Waardenburg syndrome type 4A susceptibility ISO RGD:736090 D RGD:7240710 20240313 OMIM 8787949 Ednrb endothelin receptor type B gene DOID:10003 sensorineural hearing loss ISO RGD:2536 D RGD:9068941 20200609 RGD DNA:mutation:cds: PMID:21915282|REF_RGD_ID:6480217 8787949 Ednrb endothelin receptor type B gene DOID:10487 Hirschsprung's disease ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:10090908|PMID:10458491|PMID:10664228|PMID:10874640|PMID:12628594|PMID:14633923|PMID:16145050|PMID:16518596|PMID:16944573|PMID:16954478|PMID:17011274|PMID:17223014|PMID:17618893|PMID:18162831|PMID:18633623|PMID:18758497|PMID:19320733|PMID:20009762|PMID:21507037|PMID:22993632|PMID:22995991|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:27639823|PMID:28492532|PMID:29407415|PMID:30218169|PMID:30303587|PMID:32747562|PMID:8001158|PMID:8852658|PMID:8852659|PMID:8852660|PMID:9359036|PMID:9760196 8787949 Ednrb endothelin receptor type B gene DOID:10487 Hirschsprung's disease susceptibility ISO RGD:736090 D RGD:7240710 20240313 OMIM 8787949 Ednrb endothelin receptor type B gene DOID:10487 Hirschsprung's disease treatment ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:9739043|REF_RGD_ID:628516 8787949 Ednrb endothelin receptor type B gene DOID:10762 portal hypertension ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:17214938|REF_RGD_ID:4892595 8787949 Ednrb endothelin receptor type B gene DOID:10763 hypertension ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:10749572|REF_RGD_ID:628518 8787949 Ednrb endothelin receptor type B gene DOID:10763 hypertension ISO RGD:2536 D RGD:9068941 20200609 RGD associated with Uremia PMID:20144075|REF_RGD_ID:4892284 8787949 Ednrb endothelin receptor type B gene DOID:11372 megacolon ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:8570650|REF_RGD_ID:628515 8787949 Ednrb endothelin receptor type B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 8787949 Ednrb endothelin receptor type B gene DOID:2527 nephrosis ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7756592 8787949 Ednrb endothelin receptor type B gene DOID:2841 asthma ISO RGD:10505 D RGD:9068941 20200609 RGD PMID:18632188|REF_RGD_ID:4892288 8787949 Ednrb endothelin receptor type B gene DOID:2841 asthma ISO RGD:2536 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus, smooth muscle cell PMID:15245576|REF_RGD_ID:4892324 8787949 Ednrb endothelin receptor type B gene DOID:2841 asthma ISO RGD:736090 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17470272|REF_RGD_ID:4892321 8787949 Ednrb endothelin receptor type B gene DOID:5844 myocardial infarction ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:12524016|REF_RGD_ID:1580948 8787949 Ednrb endothelin receptor type B gene DOID:6000 congestive heart failure ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28095452 8787949 Ednrb endothelin receptor type B gene DOID:614 lymphopenia ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:22975636|REF_RGD_ID:7207471 8787949 Ednrb endothelin receptor type B gene DOID:630 genetic disease ISO RGD:736090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8787949 Ednrb endothelin receptor type B gene DOID:6432 pulmonary hypertension ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:15243299|PMID:18091567|REF_RGD_ID:1580949|REF_RGD_ID:4892289 8787949 Ednrb endothelin receptor type B gene DOID:6432 pulmonary hypertension ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15927975 8787949 Ednrb endothelin receptor type B gene DOID:6432 pulmonary hypertension ISO RGD:736090 D RGD:9068941 20200609 RGD PMID:20562228|REF_RGD_ID:4144877 8787949 Ednrb endothelin receptor type B gene DOID:900 hepatopulmonary syndrome ISO RGD:2536 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17110505|REF_RGD_ID:4892290 8787949 Ednrb endothelin receptor type B gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8587695 8787949 Ednrb endothelin receptor type B gene DOID:9003546 Total Intestinal Aganglionosis ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionosis, total intestinal PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:32747562 8787949 Ednrb endothelin receptor type B gene DOID:9004009 Reperfusion Injury ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:18722366|REF_RGD_ID:4892577 8787949 Ednrb endothelin receptor type B gene DOID:9004538 Hearing Loss ISO RGD:736090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:30311386|PMID:32747562 8787949 Ednrb endothelin receptor type B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8787949 Ednrb endothelin receptor type B gene DOID:9005027 Waardenburg Syndrome Type 4 ISO RGD:736090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease with pigmentary anomaly PMID:16944573|PMID:18162831|PMID:25741868|PMID:30303587|PMID:32747562 8787949 Ednrb endothelin receptor type B gene DOID:9005660 Hypopigmentation ISO RGD:2536 D RGD:9068941 20210219 RGD compared to LE/Hkv.AR-Ednrbsl PMID:26796131|REF_RGD_ID:10755346 8787949 Ednrb endothelin receptor type B gene DOID:9007102 Myocardial Ischemia ISO RGD:736090 D RGD:9068941 20200609 RGD PMID:14729387|REF_RGD_ID:1580946 8787949 Ednrb endothelin receptor type B gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:21048781|REF_RGD_ID:4892332 8787949 Ednrb endothelin receptor type B gene DOID:9008091 Optic Nerve Injuries ISO RGD:2536 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18600494|REF_RGD_ID:4892579 8787949 Ednrb endothelin receptor type B gene DOID:9008539 Perinatal Death ISO RGD:2536 D RGD:9068941 20210409 RGD PMID:8570650|REF_RGD_ID:628515 8787949 Ednrb endothelin receptor type B gene DOID:9008939 Breast Neoplasms ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16244791 8787949 Ednrb endothelin receptor type B gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10693666 8787949 Ednrb endothelin receptor type B gene DOID:9258 Waardenburg syndrome ISO RGD:736090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 8787949 Ednrb endothelin receptor type B gene DOID:9352 type 2 diabetes mellitus ISO RGD:2536 D RGD:9068941 20200609 RGD PMID:19286964|REF_RGD_ID:2313280 8787949 Ednrb endothelin receptor type B gene DOID:9352 type 2 diabetes mellitus ISO RGD:736090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 8787961 Ptpa protein phosphatase 2 phosphatase activator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8787961 Ptpa protein phosphatase 2 phosphatase activator gene DOID:0070486 Parkinson's disease 25 ISO RGD:1318076 D RGD:7240710 20230906 OMIM 8787961 Ptpa protein phosphatase 2 phosphatase activator gene DOID:0070486 Parkinson's disease 25 ISO RGD:1318076 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development PMID:36073231 8787961 Ptpa protein phosphatase 2 phosphatase activator gene DOID:630 genetic disease ISO RGD:1318076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787961 Ptpa protein phosphatase 2 phosphatase activator gene DOID:9000217 Stomach Neoplasms ISO RGD:1318076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8787961 Ptpa protein phosphatase 2 phosphatase activator gene DOID:9000918 Disease Progression ISO RGD:1318076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8787980 Slc8b1 solute carrier family 8 member B1 gene DOID:630 genetic disease ISO RGD:1349643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8787980 Slc8b1 solute carrier family 8 member B1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1565818 D RGD:9068941 20200609 RGD PMID:23564126|REF_RGD_ID:9685494 8788001 Pthlh parathyroid hormone like hormone gene DOID:0080011 bone resorption disease ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16769263 8788001 Pthlh parathyroid hormone like hormone gene DOID:0080053 Albright's hereditary osteodystrophy ISO RGD:11188 D RGD:9068941 20220825 MouseDO OMIM:103580 8788001 Pthlh parathyroid hormone like hormone gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25035110 8788001 Pthlh parathyroid hormone like hormone gene DOID:0110976 brachydactyly type E2 ISO RGD:736996 D RGD:7240710 20180130 OMIM 8788001 Pthlh parathyroid hormone like hormone gene DOID:0110976 brachydactyly type E2 ISO RGD:736996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type E2 PMID:20170896|PMID:25741868|PMID:25801215|PMID:26763883|PMID:29947179|PMID:31283647 8788001 Pthlh parathyroid hormone like hormone gene DOID:12678 hypercalcemia ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10638776|PMID:11054717|PMID:12358896|PMID:3616618 8788001 Pthlh parathyroid hormone like hormone gene DOID:169 neuroendocrine tumor ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 8788001 Pthlh parathyroid hormone like hormone gene DOID:1793 pancreatic cancer ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 8788001 Pthlh parathyroid hormone like hormone gene DOID:3908 lung non-small cell carcinoma ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17676588 8788001 Pthlh parathyroid hormone like hormone gene DOID:4480 achondroplasia ISO RGD:11188 D RGD:9068941 20220825 MouseDO OMIM:100800 8788001 Pthlh parathyroid hormone like hormone gene DOID:4988 alcoholic pancreatitis ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22280800 8788001 Pthlh parathyroid hormone like hormone gene DOID:630 genetic disease ISO RGD:736996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20170896|PMID:24028571|PMID:25801215|PMID:26640227|PMID:26733284|PMID:26763883|PMID:28211986|PMID:28492532 8788001 Pthlh parathyroid hormone like hormone gene DOID:850 lung disease ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20857298 8788001 Pthlh parathyroid hormone like hormone gene DOID:9000067 Congenital Foot Deformities ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170896 8788001 Pthlh parathyroid hormone like hormone gene DOID:9000139 Superior Vena Cava Syndrome ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12358896 8788001 Pthlh parathyroid hormone like hormone gene DOID:9000197 Edema ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25035110 8788001 Pthlh parathyroid hormone like hormone gene DOID:9002211 Hyperalgesia ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16769263 8788001 Pthlh parathyroid hormone like hormone gene DOID:9002304 Prostatic Neoplasms ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16243370 8788001 Pthlh parathyroid hormone like hormone gene DOID:9003281 Spontaneous Abortions ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8788001 Pthlh parathyroid hormone like hormone gene DOID:9004795 Congenital Hand Deformities ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170896 8788001 Pthlh parathyroid hormone like hormone gene DOID:9006081 Osteolysis ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11054717 8788001 Pthlh parathyroid hormone like hormone gene DOID:9006190 Chronic Pancreatitis ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25035110 8788001 Pthlh parathyroid hormone like hormone gene DOID:9006257 Growth Disorders ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20170896 8788001 Pthlh parathyroid hormone like hormone gene DOID:9007346 Cachexia ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 8788001 Pthlh parathyroid hormone like hormone gene DOID:9008939 Breast Neoplasms ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22267197 8788001 Pthlh parathyroid hormone like hormone gene DOID:9538 multiple myeloma ISO RGD:736996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11054717 8788014 Cep295 centrosomal protein 295 gene DOID:0050778 Meckel syndrome ISO RGD:1602084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 8788014 Cep295 centrosomal protein 295 gene DOID:1059 intellectual disability ISO RGD:1602084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8788014 Cep295 centrosomal protein 295 gene DOID:630 genetic disease ISO RGD:1602084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788066 Dlgap4 DLG associated protein 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1331940 D RGD:9068941 20220825 MouseDO 8788066 Dlgap4 DLG associated protein 4 gene DOID:2234 focal epilepsy ISO RGD:1605091 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8788066 Dlgap4 DLG associated protein 4 gene DOID:630 genetic disease ISO RGD:1605091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788119 Nexmif neurite extension and migration factor gene DOID:0060041 autism spectrum disorder ISO RGD:1614872 D RGD:9068941 20220825 MouseDO 8788119 Nexmif neurite extension and migration factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8788119 Nexmif neurite extension and migration factor gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:1603497 D RGD:7240710 20180130 OMIM 8788119 Nexmif neurite extension and migration factor gene DOID:0112044 non-syndromic X-linked intellectual disability 98 ISO RGD:1603497 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 | ClinVar Annotator: match by term: NEXMIF-related condition PMID:15466006|PMID:23615299|PMID:24307393|PMID:25590979|PMID:25741868|PMID:25900396|PMID:26467025|PMID:26576034|PMID:27358180|PMID:27568816|PMID:28492532|PMID:29693785|PMID:32860008|PMID:33144681|PMID:34008892|PMID:34580403|PMID:35887114 8788119 Nexmif neurite extension and migration factor gene DOID:1059 intellectual disability ISO RGD:1603497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8788119 Nexmif neurite extension and migration factor gene DOID:12849 autistic disorder ISO RGD:1603497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8788119 Nexmif neurite extension and migration factor gene DOID:1826 epilepsy ISO RGD:1603497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8788119 Nexmif neurite extension and migration factor gene DOID:630 genetic disease ISO RGD:1603497 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466006|PMID:23615299|PMID:24307393|PMID:25741868|PMID:26467025|PMID:27358180|PMID:27568816|PMID:28492532|PMID:32860008|PMID:33144681 8788119 Nexmif neurite extension and migration factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8788127 Plekhg3 pleckstrin homology and RhoGEF domain containing G3 gene DOID:589 congenital hemolytic anemia ISO RGD:1346378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 8788127 Plekhg3 pleckstrin homology and RhoGEF domain containing G3 gene DOID:630 genetic disease ISO RGD:1346378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8788145 Gltpd2 glycolipid transfer protein domain containing 2 gene DOID:630 genetic disease ISO RGD:1604453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788162 LOC102028461 chromosome unknown open reading frame, human C1orf162 gene DOID:0080600 COVID-19 ISO RGD:1604535 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8788162 LOC102028461 chromosome unknown open reading frame, human C1orf162 gene DOID:630 genetic disease ISO RGD:1604535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788169 Sf1 splicing factor 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1346504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8788169 Sf1 splicing factor 1 gene DOID:1059 intellectual disability ISO RGD:1346504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8788169 Sf1 splicing factor 1 gene DOID:1909 melanoma ISO RGD:1346504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8788169 Sf1 splicing factor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8788169 Sf1 splicing factor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1346504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8788169 Sf1 splicing factor 1 gene DOID:3070 high grade glioma ISO RGD:1346504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8788169 Sf1 splicing factor 1 gene DOID:326 ischemia ISO RGD:620645 D RGD:9068941 20200609 RGD PMID:10103072|REF_RGD_ID:727772 8788169 Sf1 splicing factor 1 gene DOID:630 genetic disease ISO RGD:1346504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788169 Sf1 splicing factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8788209 Prkd2 protein kinase D2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1342931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 8788209 Prkd2 protein kinase D2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1342931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 8788209 Prkd2 protein kinase D2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1342931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8788209 Prkd2 protein kinase D2 gene DOID:630 genetic disease ISO RGD:1342931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788209 Prkd2 protein kinase D2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18758461 8788246 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1317850 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 8788246 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 8788246 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 8788246 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8788246 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1317850 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11584022|PMID:15733854|PMID:25741868|PMID:28492532 8788246 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:9002230 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY ISO RGD:1317850 D RGD:7240710 20190315 OMIM 8788246 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:9002230 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY ISO RGD:1317850 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | ClinVar Annotator: match by term: IARS1-related condition PMID:24706940|PMID:25741868|PMID:27426735|PMID:27891590|PMID:28492532 8788246 Iars1 isoleucyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1317850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8788277 Carmil1 capping protein regulator and myosin 1 linker 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1315346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8788277 Carmil1 capping protein regulator and myosin 1 linker 1 gene DOID:630 genetic disease ISO RGD:1315346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788336 Zpbp zona pellucida binding protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8788336 Zpbp zona pellucida binding protein gene DOID:630 genetic disease ISO RGD:1351452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788336 Zpbp zona pellucida binding protein gene DOID:9000088 Spermatogenic Failure 66 ISO RGD:1351452 D RGD:7240710 20220406 OMIM 8788336 Zpbp zona pellucida binding protein gene DOID:9000088 Spermatogenic Failure 66 ISO RGD:1351452 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 66 PMID:25741868|PMID:31985809 8788348 Mrps15 mitochondrial ribosomal protein S15 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8788348 Mrps15 mitochondrial ribosomal protein S15 gene DOID:630 genetic disease ISO RGD:1347502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788361 Cbr3 carbonyl reductase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1320224 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8788361 Cbr3 carbonyl reductase 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8788361 Cbr3 carbonyl reductase 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1320224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8788361 Cbr3 carbonyl reductase 3 gene DOID:630 genetic disease ISO RGD:1320224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788361 Cbr3 carbonyl reductase 3 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1320224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 8788361 Cbr3 carbonyl reductase 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1320224 D RGD:9068941 20200609 RGD mRNA:decreased expression:oral squamous cell carcinoma (human) PMID:19088887|REF_RGD_ID:2316291 8788368 Dio1 iodothyronine deiodinase 1 gene DOID:2855 hyperthyroxinemia ISO RGD:735269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3346351 8788368 Dio1 iodothyronine deiodinase 1 gene DOID:50 thyroid gland disease ISO RGD:735269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17105838 8788368 Dio1 iodothyronine deiodinase 1 gene DOID:630 genetic disease ISO RGD:735269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788368 Dio1 iodothyronine deiodinase 1 gene DOID:655 inherited metabolic disorder ISO RGD:735269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17105838 8788368 Dio1 iodothyronine deiodinase 1 gene DOID:9000651 Abnormal Thyroid Hormone Metabolism 2 ISO RGD:735269 D RGD:7240710 20220427 OMIM 8788368 Dio1 iodothyronine deiodinase 1 gene DOID:9000651 Abnormal Thyroid Hormone Metabolism 2 ISO RGD:735269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal, 2 PMID:32718224 8788368 Dio1 iodothyronine deiodinase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8788368 Dio1 iodothyronine deiodinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2504 D RGD:9068941 20200609 RGD PMID:11765219|REF_RGD_ID:727335 8788377 Pde9a phosphodiesterase 9A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:733534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8788377 Pde9a phosphodiesterase 9A gene DOID:0110266 cataract 9 multiple types ISO RGD:733534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8788377 Pde9a phosphodiesterase 9A gene DOID:12858 Huntington's disease treatment ISO RGD:621035 D RGD:9068941 20230330 RGD PMID:25315303|REF_RGD_ID:243048432 8788377 Pde9a phosphodiesterase 9A gene DOID:12930 dilated cardiomyopathy ISO RGD:733534 D RGD:9068941 20230325 RGD protein:increased expression:heart PMID:25799991|REF_RGD_ID:240550109 8788377 Pde9a phosphodiesterase 9A gene DOID:6000 congestive heart failure severity ISO RGD:733534 D RGD:9068941 20230325 RGD mRNA:increased expression:heart, peripheral blood mononuclear cell PMID:33787083|REF_RGD_ID:240191787 8788377 Pde9a phosphodiesterase 9A gene DOID:6000 congestive heart failure treatment ISO RGD:621035 D RGD:9068941 20230325 RGD PMID:28649129|REF_RGD_ID:241060360 8788377 Pde9a phosphodiesterase 9A gene DOID:630 genetic disease ISO RGD:733534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788377 Pde9a phosphodiesterase 9A gene DOID:8725 vascular dementia treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:30916555|REF_RGD_ID:242905183 8788377 Pde9a phosphodiesterase 9A gene DOID:891 progressive myoclonus epilepsy ISO RGD:733534 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8788377 Pde9a phosphodiesterase 9A gene DOID:9000543 Death sexual_dimorphism ISO RGD:733534 D RGD:9068941 20230325 RGD associated with coronary artery disease;DNA:SNP: :rs8133010 (human) PMID:35959094|REF_RGD_ID:242905186 8788377 Pde9a phosphodiesterase 9A gene DOID:9003197 Vaso-occlusive Crisis treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:22833547|REF_RGD_ID:242905184 8788377 Pde9a phosphodiesterase 9A gene DOID:9003936 Cardiomegaly treatment ISO RGD:621035 D RGD:9068941 20230325 RGD PMID:28649129|REF_RGD_ID:241060360 8788377 Pde9a phosphodiesterase 9A gene DOID:9003936 Cardiomegaly treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:25799991|PMID:33464954|REF_RGD_ID:240550109|REF_RGD_ID:242905185 8788377 Pde9a phosphodiesterase 9A gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:34618683|REF_RGD_ID:242170038 8788377 Pde9a phosphodiesterase 9A gene DOID:9263 homocystinuria ISO RGD:733534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8788377 Pde9a phosphodiesterase 9A gene DOID:9562 primary ciliary dyskinesia ISO RGD:733534 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8788377 Pde9a phosphodiesterase 9A gene DOID:9970 obesity treatment ISO RGD:733535 D RGD:9068941 20230325 RGD PMID:34618683|REF_RGD_ID:242170038 8788406 Tspan31 tetraspanin 31 gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:1320454 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868|PMID:28492532 8788406 Tspan31 tetraspanin 31 gene DOID:2394 ovarian cancer ISO RGD:1320454 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 8788406 Tspan31 tetraspanin 31 gene DOID:3369 Ewing sarcoma ISO RGD:1320454 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:24755471|PMID:25318351|PMID:25741868|PMID:26252490|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30093976|PMID:30851086 8788406 Tspan31 tetraspanin 31 gene DOID:630 genetic disease ISO RGD:1320454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788406 Tspan31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098 8788406 Tspan31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098 8788406 Tspan31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:35264596|PMID:9536098 8788406 Tspan31 tetraspanin 31 gene DOID:6846 familial melanoma ISO RGD:1320454 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:35264596|PMID:36095024|PMID:36243179|PMID:9536098 8788406 Tspan31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:31159747 8788406 Tspan31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:9536098 8788406 Tspan31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:34285288|PMID:35264596|PMID:9536098 8788406 Tspan31 tetraspanin 31 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320454 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:20668451|PMID:21520333|PMID:23718828|PMID:24728327|PMID:24755471|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26580448|PMID:27640074|PMID:27997549|PMID:28166811|PMID:28492532|PMID:29641532|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31784493|PMID:32980694|PMID:34285288|PMID:35264596|PMID:36095024|PMID:36243179|PMID:9536098 8788420 Mapkap1 MAPK associated protein 1 gene DOID:630 genetic disease ISO RGD:1313344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788450 Trim10 tripartite motif containing 10 gene DOID:11372 megacolon ISO RGD:1349784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8788450 Trim10 tripartite motif containing 10 gene DOID:2772 irritant dermatitis ISO RGD:1349784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 8788450 Trim10 tripartite motif containing 10 gene DOID:630 genetic disease ISO RGD:1349784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788464 Airim AFG2 interacting ribosome maturation factor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8788464 Airim AFG2 interacting ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1606277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788473 Tubb6 tubulin beta 6 class V gene DOID:0050944 spastic ataxia 5 ISO RGD:1343714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 5 PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532 8788473 Tubb6 tubulin beta 6 class V gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1343714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532 8788473 Tubb6 tubulin beta 6 class V gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1343714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8788473 Tubb6 tubulin beta 6 class V gene DOID:0080840 optic atrophy 12 ISO RGD:1343714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy 12 PMID:25741868 8788473 Tubb6 tubulin beta 6 class V gene DOID:1059 intellectual disability ISO RGD:1343714 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8788473 Tubb6 tubulin beta 6 class V gene DOID:543 dystonia ISO RGD:1343714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8788473 Tubb6 tubulin beta 6 class V gene DOID:630 genetic disease ISO RGD:1343714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8788473 Tubb6 tubulin beta 6 class V gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8788473 Tubb6 tubulin beta 6 class V gene DOID:9008248 Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction ISO RGD:1343714 D RGD:7240710 20190315 OMIM 8788473 Tubb6 tubulin beta 6 class V gene DOID:9008248 Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction ISO RGD:1343714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction PMID:25741868|PMID:29016863 8788500 Slc16a9 solute carrier family 16 member 9 gene DOID:630 genetic disease ISO RGD:1347871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:731681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:731681 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0090111 PCWH syndrome ISO RGD:731681 D RGD:7240710 20180130 OMIM 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0090111 PCWH syndrome ISO RGD:731681 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: PCWH syndrome PMID:10482261|PMID:10762540|PMID:11026454|PMID:12447940|PMID:15004559|PMID:1636383|PMID:17855451|PMID:17999358|PMID:19764030|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25077900|PMID:25741868|PMID:25991456|PMID:26467025|PMID:27240497|PMID:27562378|PMID:28492532|PMID:29419413|PMID:30311386|PMID:32908489|PMID:35802133|PMID:36633841|PMID:9462749 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0090111 PCWH syndrome severity ISO RGD:731681 D RGD:9068941 20200609 RGD PMID:25959061|REF_RGD_ID:12802339 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:731681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:21898658|PMID:28390600 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:25741868|PMID:29407415|PMID:30311386|PMID:34599368 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4A PMID:25741868 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0110955 Waardenburg syndrome type 4C ISO RGD:731681 D RGD:7240710 20180130 OMIM 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0110955 Waardenburg syndrome type 4C ISO RGD:731681 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4C PMID:10077527|PMID:15004559|PMID:18348274|PMID:21898658|PMID:21965087|PMID:24033266|PMID:25741868|PMID:25991456|PMID:27666373|PMID:28492532|PMID:29407415|PMID:30311386|PMID:33442024|PMID:33724713|PMID:34474183|PMID:34599368|PMID:36413997|PMID:9462749 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:731681 D RGD:7240710 20180130 OMIM 8788525 Sox10 SRY-box transcription factor 10 gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:731681 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement PMID:10077527|PMID:10441344|PMID:15004559|PMID:17999358|PMID:18348267|PMID:18627047|PMID:19208381|PMID:20478267|PMID:21898658|PMID:21965087|PMID:23237859|PMID:23643381|PMID:24033266|PMID:25077900|PMID:25741868|PMID:26467025|PMID:27240497|PMID:27562378|PMID:28000701|PMID:28492532|PMID:31152317|PMID:31427586|PMID:32853555|PMID:32908489|PMID:33442024|PMID:33597575|PMID:33865100|PMID:34142234|PMID:35802133|PMID:36633841|PMID:8911608 8788525 Sox10 SRY-box transcription factor 10 gene DOID:10487 Hirschsprung's disease ISO RGD:731681 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24357527 8788525 Sox10 SRY-box transcription factor 10 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11026454|PMID:16504559 8788525 Sox10 SRY-box transcription factor 10 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8788525 Sox10 SRY-box transcription factor 10 gene DOID:3614 Kallmann syndrome ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 8788525 Sox10 SRY-box transcription factor 10 gene DOID:630 genetic disease ISO RGD:731681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8788525 Sox10 SRY-box transcription factor 10 gene DOID:9004042 Olfaction Disorders ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 8788525 Sox10 SRY-box transcription factor 10 gene DOID:9004147 Anosmia ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 8788525 Sox10 SRY-box transcription factor 10 gene DOID:9004538 Hearing Loss ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17999358|PMID:20127975|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386 8788525 Sox10 SRY-box transcription factor 10 gene DOID:9005027 Waardenburg Syndrome Type 4 ISO RGD:731681 D RGD:9068941 20200609 RGD DNA:missense mutations,insertion,deletion:cds: PMID:9462749|REF_RGD_ID:12832744 8788525 Sox10 SRY-box transcription factor 10 gene DOID:9008681 Deafness ISO RGD:731681 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies PMID:25077900|PMID:25741868|PMID:27562378|PMID:28492532|PMID:29419413|PMID:32908489|PMID:35802133|PMID:36633841 8788525 Sox10 SRY-box transcription factor 10 gene DOID:9258 Waardenburg syndrome ISO RGD:731681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:17999358|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 8788533 Nrg4 neuregulin 4 gene DOID:2717 Bloom syndrome ISO RGD:1606150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8788533 Nrg4 neuregulin 4 gene DOID:5419 schizophrenia ISO RGD:1606150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8788533 Nrg4 neuregulin 4 gene DOID:630 genetic disease ISO RGD:1606150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788533 Nrg4 neuregulin 4 gene DOID:9256 colorectal cancer ISO RGD:1606150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8788569 Yif1b Yip1 interacting factor homolog B, membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1604767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:32006098|PMID:33103737 8788569 Yif1b Yip1 interacting factor homolog B, membrane trafficking protein gene DOID:9003570 Kaya-Barakat-Masson Syndrome ISO RGD:1604767 D RGD:7240710 20201223 OMIM 8788569 Yif1b Yip1 interacting factor homolog B, membrane trafficking protein gene DOID:9003570 Kaya-Barakat-Masson Syndrome ISO RGD:1604767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kaya-Barakat-Masson syndrome PMID:32006098|PMID:33103737 8788599 Fgf2 fibroblast growth factor 2 gene DOID:0002116 pterygium ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:20198298|REF_RGD_ID:8554855 8788599 Fgf2 fibroblast growth factor 2 gene DOID:0080001 bone disease ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17066631|REF_RGD_ID:2315858 8788599 Fgf2 fibroblast growth factor 2 gene DOID:0080600 COVID-19 severity ISO RGD:70822 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8788599 Fgf2 fibroblast growth factor 2 gene DOID:0080855 Parkinsonism treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:27228974|REF_RGD_ID:13801017 8788599 Fgf2 fibroblast growth factor 2 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8098714|REF_RGD_ID:2317763 8788599 Fgf2 fibroblast growth factor 2 gene DOID:10763 hypertension ISO RGD:2609 D RGD:9068941 20200609 RGD associated with Aortic Coarctation PMID:17562191|REF_RGD_ID:8655614 8788599 Fgf2 fibroblast growth factor 2 gene DOID:10808 gastric ulcer treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:9127818|REF_RGD_ID:8655642 8788599 Fgf2 fibroblast growth factor 2 gene DOID:10964 cholesteatoma of middle ear ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:11078065|REF_RGD_ID:8547968 8788599 Fgf2 fibroblast growth factor 2 gene DOID:11054 urinary bladder cancer ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:11908679|REF_RGD_ID:2290291 8788599 Fgf2 fibroblast growth factor 2 gene DOID:11382 corneal neovascularization ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9301478 8788599 Fgf2 fibroblast growth factor 2 gene DOID:11382 corneal neovascularization ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:11437330|REF_RGD_ID:8655668 8788599 Fgf2 fibroblast growth factor 2 gene DOID:11664 nephrosclerosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 8788599 Fgf2 fibroblast growth factor 2 gene DOID:11714 gestational diabetes ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 8788599 Fgf2 fibroblast growth factor 2 gene DOID:1184 nephrotic syndrome ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441931 8788599 Fgf2 fibroblast growth factor 2 gene DOID:127 leiomyoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:uterus PMID:16139411|REF_RGD_ID:2290287 8788599 Fgf2 fibroblast growth factor 2 gene DOID:1380 endometrial cancer disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myometrium PMID:8685603|REF_RGD_ID:2298516 8788599 Fgf2 fibroblast growth factor 2 gene DOID:1561 cognitive disorder ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:17955369|REF_RGD_ID:2315912 8788599 Fgf2 fibroblast growth factor 2 gene DOID:1596 depressive disorder ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861106 8788599 Fgf2 fibroblast growth factor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14715109|REF_RGD_ID:8655549 8788599 Fgf2 fibroblast growth factor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland fluid/secretion PMID:12184408|REF_RGD_ID:8655587 8788599 Fgf2 fibroblast growth factor 2 gene DOID:1727 retinal vein occlusion ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:10342378|REF_RGD_ID:8655593 8788599 Fgf2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:12670449|REF_RGD_ID:2317759 8788599 Fgf2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11562741|REF_RGD_ID:2317760 8788599 Fgf2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:bile PMID:11478488|REF_RGD_ID:2317765 8788599 Fgf2 fibroblast growth factor 2 gene DOID:1793 pancreatic cancer severity ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:9293890|REF_RGD_ID:2317762 8788599 Fgf2 fibroblast growth factor 2 gene DOID:1875 impotence ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15758817|REF_RGD_ID:2315866 8788599 Fgf2 fibroblast growth factor 2 gene DOID:2224 essential thrombocythemia ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 8788599 Fgf2 fibroblast growth factor 2 gene DOID:2394 ovarian cancer disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:14613644|REF_RGD_ID:2290288 8788599 Fgf2 fibroblast growth factor 2 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14522896|REF_RGD_ID:2290290 8788599 Fgf2 fibroblast growth factor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:70822 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:7549793|REF_RGD_ID:2298517 8788599 Fgf2 fibroblast growth factor 2 gene DOID:2723 dermatitis ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:16507899|REF_RGD_ID:8554852 8788599 Fgf2 fibroblast growth factor 2 gene DOID:2843 long QT syndrome ISO RGD:70822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8788599 Fgf2 fibroblast growth factor 2 gene DOID:3070 high grade glioma ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10673511 8788599 Fgf2 fibroblast growth factor 2 gene DOID:3213 demyelinating disease ISO RGD:70823 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:11020217|REF_RGD_ID:8655565 8788599 Fgf2 fibroblast growth factor 2 gene DOID:3393 coronary artery disease ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:14585103|REF_RGD_ID:2315879 8788599 Fgf2 fibroblast growth factor 2 gene DOID:3454 brain infarction ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17524524 8788599 Fgf2 fibroblast growth factor 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:8532703|REF_RGD_ID:8655550 8788599 Fgf2 fibroblast growth factor 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2609 D RGD:9068941 20230610 RGD PMID:30531687|REF_RGD_ID:329849008 8788599 Fgf2 fibroblast growth factor 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:18704599|REF_RGD_ID:2317756 8788599 Fgf2 fibroblast growth factor 2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:12717266|REF_RGD_ID:2317758 8788599 Fgf2 fibroblast growth factor 2 gene DOID:365 bladder disease ISO RGD:2609 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:urinary bladder PMID:17763394|REF_RGD_ID:2315846 8788599 Fgf2 fibroblast growth factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8952537 8788599 Fgf2 fibroblast growth factor 2 gene DOID:4449 macular retinal edema ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:aqueous humor PMID:17505145|REF_RGD_ID:8655594 8788599 Fgf2 fibroblast growth factor 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1718278|REF_RGD_ID:2290303 8788599 Fgf2 fibroblast growth factor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:bile PMID:11478488|REF_RGD_ID:2317765 8788599 Fgf2 fibroblast growth factor 2 gene DOID:5041 esophageal cancer ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:29660336|REF_RGD_ID:21409755 8788599 Fgf2 fibroblast growth factor 2 gene DOID:5082 liver cirrhosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17093919 8788599 Fgf2 fibroblast growth factor 2 gene DOID:557 kidney disease ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8995747 8788599 Fgf2 fibroblast growth factor 2 gene DOID:5773 oral submucous fibrosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 8788599 Fgf2 fibroblast growth factor 2 gene DOID:630 genetic disease ISO RGD:70822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788599 Fgf2 fibroblast growth factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:19197140|REF_RGD_ID:2315911 8788599 Fgf2 fibroblast growth factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19197140|REF_RGD_ID:2315911 8788599 Fgf2 fibroblast growth factor 2 gene DOID:674 cleft palate ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8788599 Fgf2 fibroblast growth factor 2 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 8788599 Fgf2 fibroblast growth factor 2 gene DOID:823 periapical periodontitis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16631837 8788599 Fgf2 fibroblast growth factor 2 gene DOID:83 cataract ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:lens, epithelial cell PMID:19491954|REF_RGD_ID:8554856 8788599 Fgf2 fibroblast growth factor 2 gene DOID:8549 chronic ulcer of skin ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:19638336|REF_RGD_ID:2315843 8788599 Fgf2 fibroblast growth factor 2 gene DOID:8717 decubitus ulcer ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:23740668|REF_RGD_ID:8655548 8788599 Fgf2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:2609 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:14975211|REF_RGD_ID:2315875 8788599 Fgf2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:70822 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.754C>G(human) PMID:17997184|REF_RGD_ID:2315845 8788599 Fgf2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:70822 D RGD:9068941 20200609 RGD DNA:polymorphism:promotor:g.-553T>A(human) PMID:18279437|REF_RGD_ID:2315844 8788599 Fgf2 fibroblast growth factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Pregnancy in Diabetics PMID:9141532|REF_RGD_ID:2315885 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:bile PMID:11478488|REF_RGD_ID:2317765 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2609 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:70823 D RGD:9068941 20200609 RGD PMID:22407271|REF_RGD_ID:8554853 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9000528 Coronary Disease ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:15451784|REF_RGD_ID:2315870 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast PMID:15491965|REF_RGD_ID:8655598 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:14706681|REF_RGD_ID:2315876 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9000918 Disease Progression ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644816 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9000998 Brain Injuries ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21269288 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:10359334|REF_RGD_ID:8655568 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19014962 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001384 Kaposiform Hemangioendothelioma ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14517397|REF_RGD_ID:8655667 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001472 Nasal Polyps ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:16720444|REF_RGD_ID:8655569 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17244329|REF_RGD_ID:8655633 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16116963 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12533868|REF_RGD_ID:2292211 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11842932 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16008728|REF_RGD_ID:2315863 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:23603001|REF_RGD_ID:8655580 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001600 Wounds and Injuries treatment ISO RGD:70823 D RGD:9068941 20200609 RGD PMID:21402405|REF_RGD_ID:8655582 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:9561364|REF_RGD_ID:8554857 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14975212|PMID:8125754|REF_RGD_ID:8655585|REF_RGD_ID:8655591 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:9183688|REF_RGD_ID:8655640 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70822 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19279131|REF_RGD_ID:2315842 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644816 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9002514 Neointima ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:8808969|REF_RGD_ID:8655643 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9002560 Penetrating Eye Injuries ISO RGD:70823 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:9268592|REF_RGD_ID:8655567 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9002589 Bone Fractures ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:8033826|REF_RGD_ID:2315907 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:16507899|REF_RGD_ID:8554852 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:9814819|REF_RGD_ID:9831448 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2609 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:8929896|REF_RGD_ID:8655647 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9002955 Nerve Degeneration ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10203697 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:23303813|REF_RGD_ID:8655596 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9003566 Mesothelioma ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878867 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9003936 Cardiomegaly ISO RGD:2609 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18196276|REF_RGD_ID:2289364 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9003936 Cardiomegaly ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10491406 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9004210 Tympanic Membrane Perforation ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:9840508|REF_RGD_ID:8655577 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9004210 Tympanic Membrane Perforation disease_progression ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:20015768|REF_RGD_ID:8655595 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9004210 Tympanic Membrane Perforation treatment ISS RGD:70822 D RGD:11554033|PMID:8969759 20161019 RGD 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:12626345|REF_RGD_ID:11567262 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:70822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9005175 Ulcer ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression, alternative forms:mucosa of stomach PMID:21600881|REF_RGD_ID:8655658 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9005372 Inflammation ISO RGD:2609 D RGD:9068941 20200609 RGD associated with Diabetic retinopathy;protein:increased expression:retina PMID:19474406|REF_RGD_ID:2315840 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9005372 Inflammation ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21087489 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:10541235|REF_RGD_ID:8655590 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19014962 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:10792180|REF_RGD_ID:8655613 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:12663474|REF_RGD_ID:2315880 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9005749 Necrosis treatment ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Ischemia PMID:22924373|REF_RGD_ID:8655615 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9006447 Eye Injuries ISO RGD:2609 D RGD:9068941 20200609 RGD protein:increased expression:lens PMID:15273655|REF_RGD_ID:8655664 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9006447 Eye Injuries ISO RGD:70823 D RGD:9068941 20200609 RGD PMID:15273655|REF_RGD_ID:8655664 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12173832|PMID:14583313 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9007402 Gliosis ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21087489 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:70822 D RGD:9068941 20210604 RGD human protein in mouse model PMID:26617350|REF_RGD_ID:126928152 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:14664816|REF_RGD_ID:8554854 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9008763 Femoral Fractures ISO RGD:2609 D RGD:9068941 20200609 RGD PMID:11704499|REF_RGD_ID:11567258 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9008861 Wound Infection ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16008728|REF_RGD_ID:2315863 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10646786 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9296 cleft lip ISO RGD:70822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18279437|REF_RGD_ID:2315844 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Retinal Detachment PMID:9613386|REF_RGD_ID:8655597 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9741 biliary tract disease ISO RGD:70822 D RGD:9068941 20200609 RGD protein:increased expression:bile PMID:11478488|REF_RGD_ID:2317765 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9743 diabetic neuropathy ISO RGD:70822 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16644707|REF_RGD_ID:2315860 8788599 Fgf2 fibroblast growth factor 2 gene DOID:9810 polyarteritis nodosa ISO RGD:70822 D RGD:9068941 20200609 RGD PMID:15965421|REF_RGD_ID:8655581 8788609 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:736126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8788609 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8788609 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8788609 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8788609 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:0111621 Temtamy syndrome ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8788609 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:1168 familial hyperlipidemia ISO RGD:2133 D RGD:9068941 20200609 RGD PMID:11116209|REF_RGD_ID:1626277 8788609 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:219 colon cancer ISO RGD:2133 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colon PMID:12020819|REF_RGD_ID:625559 8788609 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:736126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788609 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8788609 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:736126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8788609 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:916 liver benign neoplasm ISO RGD:2133 D RGD:9068941 20200609 RGD PMID:9633945|REF_RGD_ID:10755510 8788609 Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 gene DOID:9970 obesity ISO RGD:2133 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8781289|REF_RGD_ID:1626278 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:0050591 tooth agenesis ISO RGD:731312 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:25741868 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:0060387 chondrodysplasia Blomstrand type ISO RGD:731312 D RGD:7240710 20190315 OMIM 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:0060387 chondrodysplasia Blomstrand type ISO RGD:731312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type PMID:10523019|PMID:17164305|PMID:17576681|PMID:18559376|PMID:21404329|PMID:23771181|PMID:25741868|PMID:28492532|PMID:31986066|PMID:3975110|PMID:9268097|PMID:9536098|PMID:9649554|PMID:9745456 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:0080020 Jansen's metaphyseal chondrodysplasia ISO RGD:731312 D RGD:7240710 20190315 OMIM 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:0080020 Jansen's metaphyseal chondrodysplasia ISO RGD:731312 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia Murk Jansen type | ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type PMID:10487664|PMID:17576681|PMID:18559376|PMID:22278430|PMID:25741868|PMID:28492532|PMID:7701349|PMID:8076140|PMID:8703170|PMID:9536098 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:0111341 primary failure of tooth eruption ISO RGD:731312 D RGD:7240710 20190315 OMIM 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:0111341 primary failure of tooth eruption ISO RGD:731312 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary failure of tooth eruption PMID:17576681|PMID:19061984|PMID:22278430|PMID:23771181|PMID:25741868|PMID:28492532|PMID:35250876|PMID:7701349|PMID:8076140|PMID:8703170|PMID:9536098|PMID:9745456 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:0111732 Eiken syndrome ISO RGD:731312 D RGD:7240710 20190315 OMIM 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:0111732 Eiken syndrome ISO RGD:731312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eiken syndrome PMID:15525660|PMID:25741868|PMID:28492532|PMID:29987841|PMID:31297790 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:10609 rickets ISO RGD:731312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10375030 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:12678 hypercalcemia ISO RGD:3442 D RGD:9068941 20200609 RGD protein:increased expression:odontoblast; associated with neoplasms PMID:16036863|REF_RGD_ID:1599980 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:13543 hyperparathyroidism ISO RGD:731312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11014383 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:2256 osteochondrodysplasia ISO RGD:731312 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Chondrodysplasia PMID:25741868|PMID:28492532 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:731312 D RGD:9068941 20200609 RGD DNA:missense mutations:exon; metaphyseal chondrodysplasia, OMIM:156400 PMID:8703170|REF_RGD_ID:1599978 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:4184 pseudohypoparathyroidism ISO RGD:731312 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism PMID:25741868|PMID:35846276 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:630 genetic disease ISO RGD:731312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:65 connective tissue disease ISO RGD:731312 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:18559376|PMID:25741868|PMID:28492532 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:731312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:850 lung disease ISO RGD:731312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20857298 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:731312 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:25741868|PMID:28492532 8788630 Pth1r parathyroid hormone 1 receptor gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:731312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8788659 Mymk myomaker, myoblast fusion factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8788659 Mymk myomaker, myoblast fusion factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8788659 Mymk myomaker, myoblast fusion factor gene DOID:0080194 Carey-Fineman-Ziter syndrome ISO RGD:3302829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE PMID:25741868|PMID:28681861|PMID:29560417|PMID:30016436|PMID:30065953|PMID:7131178 8788659 Mymk myomaker, myoblast fusion factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:3302829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8788659 Mymk myomaker, myoblast fusion factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8788659 Mymk myomaker, myoblast fusion factor gene DOID:0081097 Rafiq syndrome ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8788659 Mymk myomaker, myoblast fusion factor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:3302829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8788659 Mymk myomaker, myoblast fusion factor gene DOID:3652 Leigh disease ISO RGD:3302829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8788659 Mymk myomaker, myoblast fusion factor gene DOID:630 genetic disease ISO RGD:3302829 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788659 Mymk myomaker, myoblast fusion factor gene DOID:9008218 Carey-Fineman-Ziter Syndrome 1 ISO RGD:3302829 D RGD:7240710 20220706 OMIM 8788659 Mymk myomaker, myoblast fusion factor gene DOID:9008218 Carey-Fineman-Ziter Syndrome 1 ISO RGD:3302829 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 PMID:25741868|PMID:28681861|PMID:29560417|PMID:30065953|PMID:7131178 8788673 Mmab metabolism of cobalamin associated B gene DOID:0050452 mevalonic aciduria ISO RGD:1347796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mevalonic aciduria PMID:23707710|PMID:24033266|PMID:25741868|PMID:28492532 8788673 Mmab metabolism of cobalamin associated B gene DOID:0060743 methylmalonic acidemia cblB type ISO RGD:1347796 D RGD:7240710 20180130 OMIM 8788673 Mmab metabolism of cobalamin associated B gene DOID:0060743 methylmalonic acidemia cblB type ISO RGD:1347796 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type PMID:12471062|PMID:15044458|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17176040|PMID:17410422|PMID:17576681|PMID:17948227|PMID:17957493|PMID:18251506|PMID:18452306|PMID:19625202|PMID:20301409|PMID:20549364|PMID:20556797|PMID:20696242|PMID:21048060|PMID:21604717|PMID:22614770|PMID:22695176|PMID:23674520|PMID:23707710|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24813872|PMID:25525159|PMID:25741868|PMID:25760844|PMID:26589311|PMID:26694549|PMID:27591164|PMID:28468868|PMID:28492532|PMID:29039164|PMID:29197662|PMID:30022420|PMID:30041674|PMID:30712249|PMID:31260114|PMID:31622506|PMID:33453710|PMID:33552909|PMID:34796408|PMID:35712814|PMID:9536098 8788673 Mmab metabolism of cobalamin associated B gene DOID:0081329 glycogen storage disease I ISO RGD:1347796 D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:24033266|PMID:25741868|PMID:28492532 8788673 Mmab metabolism of cobalamin associated B gene DOID:14749 methylmalonic acidemia ISO RGD:1347796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:12471062|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17410422|PMID:17576681|PMID:17948227|PMID:17957493|PMID:19625202|PMID:20301409|PMID:20556797|PMID:20696242|PMID:21048060|PMID:21604717|PMID:22614770|PMID:22695176|PMID:23707710|PMID:24033266|PMID:24059531|PMID:24516753|PMID:24813872|PMID:25525159|PMID:25741868|PMID:26589311|PMID:28492532|PMID:29039164|PMID:29197662|PMID:30022420|PMID:31260114|PMID:34796408|PMID:9536098 8788673 Mmab metabolism of cobalamin associated B gene DOID:1909 melanoma ISO RGD:1347796 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8788673 Mmab metabolism of cobalamin associated B gene DOID:2749 glycogen storage disease Ia ISO RGD:1347796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatorenal form of glycogen storage disease PMID:24033266|PMID:25741868|PMID:28492532 8788673 Mmab metabolism of cobalamin associated B gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1347796 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24033266|PMID:25741868|PMID:28492532 8788673 Mmab metabolism of cobalamin associated B gene DOID:630 genetic disease ISO RGD:1347796 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12471062|PMID:15044458|PMID:15781192|PMID:16311595|PMID:16410054|PMID:16439175|PMID:17176040|PMID:17576681|PMID:17948227|PMID:17957493|PMID:18251506|PMID:19625202|PMID:20301409|PMID:20556797|PMID:20696242|PMID:21048060|PMID:22614770|PMID:23674520|PMID:23707710|PMID:24059531|PMID:25741868|PMID:27591164|PMID:28468868|PMID:28492532|PMID:29197662|PMID:30022420|PMID:30712249|PMID:31260114|PMID:33453710|PMID:34796408|PMID:35712814|PMID:9536098 8788673 Mmab metabolism of cobalamin associated B gene DOID:655 inherited metabolic disorder ISO RGD:1347796 D RGD:9068941 20200609 RGD methylmalonic aciduria, cblB type, OMIM:251110 PMID:12471062|REF_RGD_ID:1600420 8788673 Mmab metabolism of cobalamin associated B gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:1347796 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 PMID:24033266|PMID:25741868|PMID:26202976|PMID:28492532 8788689 Pygo1 pygopus family PHD finger 1 gene DOID:2717 Bloom syndrome ISO RGD:1346093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8788689 Pygo1 pygopus family PHD finger 1 gene DOID:630 genetic disease ISO RGD:1346093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788689 Pygo1 pygopus family PHD finger 1 gene DOID:9256 colorectal cancer ISO RGD:1346093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:731478 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731478 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:1397719|PMID:1918382|PMID:7814014 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:1059 intellectual disability ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:10652 Alzheimer's disease ISO RGD:731478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24055495 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:12177 common variable immunodeficiency ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:2729 dyskeratosis congenita ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:3393 coronary artery disease ISO RGD:731478 D RGD:9068941 20230601 RGD mRNA:decreased expression:epicardial fat, subcutaneous adipose tissue (human) PMID:21645024|REF_RGD_ID:329845584 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:6000 congestive heart failure severity ISO RGD:731478 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle PMID:18778861|REF_RGD_ID:2313624 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:630 genetic disease ISO RGD:731478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:2711 D RGD:9068941 20200609 RGD PMID:19043358|REF_RGD_ID:2313622 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:9003936 Cardiomegaly ISO RGD:731478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22221582 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2711 D RGD:9068941 20200609 RGD PMID:19252289|REF_RGD_ID:2313621 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11947963|PMID:14563825|PMID:18266981|PMID:22138235 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:731479 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:9007692 Insulin Resistance ISO RGD:731478 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11947963 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:9007692 Insulin Resistance ISO RGD:731478 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive;protein:decreased expression:skeletal muscle PMID:18778861|REF_RGD_ID:2313624 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2711 D RGD:9068941 20200609 RGD PMID:10336852|REF_RGD_ID:12879857 8788695 Slc2a4 solute carrier family 2 member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:1397719|PMID:1918382|PMID:7814014 8788712 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:10763 hypertension ISO RGD:1310046 D RGD:9068941 20200609 RGD PMID:23185005|REF_RGD_ID:9685162 8788712 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:11383 cryptorchidism ISO RGD:1310046 D RGD:9068941 20201211 RGD PMID:24983376|PMID:32037220|REF_RGD_ID:13434925|REF_RGD_ID:38548917 8788712 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:12336 male infertility ISO RGD:1310046 D RGD:9068941 20201211 RGD PMID:24983376|PMID:32037220|REF_RGD_ID:13434925|REF_RGD_ID:38548917 8788712 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:630 genetic disease ISO RGD:1320722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788712 Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif 16 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1320722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 8788740 Ankdd1b ankyrin repeat and death domain containing 1B gene DOID:3323 Sandhoff disease ISO RGD:2301773 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 8788740 Ankdd1b ankyrin repeat and death domain containing 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8788760 Ficd FIC domain protein adenylyltransferase gene DOID:630 genetic disease ISO RGD:1602333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788772 Mei1 meiotic double-stranded break formation protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1642765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8788772 Mei1 meiotic double-stranded break formation protein 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1642765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8788772 Mei1 meiotic double-stranded break formation protein 1 gene DOID:630 genetic disease ISO RGD:1642765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788772 Mei1 meiotic double-stranded break formation protein 1 gene DOID:9005301 Hydatidiform Mole, Recurrent, 3 ISO RGD:1642765 D RGD:7240710 20190612 OMIM 8788772 Mei1 meiotic double-stranded break formation protein 1 gene DOID:9005301 Hydatidiform Mole, Recurrent, 3 ISO RGD:1642765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 PMID:25741868|PMID:30388401 8788822 B4galnt2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1354479 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8788822 B4galnt2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) gene DOID:630 genetic disease ISO RGD:1354479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788822 B4galnt2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) gene DOID:9001500 Sd(a) POLYAGGLUTINATION SYNDROME ISO RGD:1354479 D RGD:7240710 20220209 OMIM 8788822 B4galnt2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) gene DOID:9001500 Sd(a) POLYAGGLUTINATION SYNDROME ISO RGD:1354479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BLOOD GROUP, SID SYSTEM PMID:28492532|PMID:31367682 8788822 B4galnt2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) gene DOID:9005170 polyagglutination ISO RGD:1354479 D RGD:7240710 20230505 OMIM 8788837 Armcx1 armadillo repeat containing X-linked 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8788837 Armcx1 armadillo repeat containing X-linked 1 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8788837 Armcx1 armadillo repeat containing X-linked 1 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8788837 Armcx1 armadillo repeat containing X-linked 1 gene DOID:12849 autistic disorder ISO RGD:1345943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8788837 Armcx1 armadillo repeat containing X-linked 1 gene DOID:630 genetic disease ISO RGD:1345943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788837 Armcx1 armadillo repeat containing X-linked 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8788869 Rap1a RAP1A, member of RAS oncogene family gene DOID:630 genetic disease ISO RGD:1352228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788869 Rap1a RAP1A, member of RAS oncogene family gene DOID:9004912 Hyperoxaluria ISO RGD:1359694 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:23091645|REF_RGD_ID:10040961 8788869 Rap1a RAP1A, member of RAS oncogene family gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1359694 D RGD:9068941 20200609 RGD PMID:20501665|REF_RGD_ID:10003160 8788880 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:0050450 Gitelman syndrome ISO RGD:1557765 D RGD:9068941 20220825 MouseDO OMIM:263800 8788880 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:10763 hypertension ISO RGD:1353270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 8788880 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:10763 hypertension ISO RGD:1353270 D RGD:9068941 20200609 RGD PMID:15110905|REF_RGD_ID:1580830 8788880 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:10763 hypertension no_association ISO RGD:631401 D RGD:9068941 20200609 RGD PMID:12642508|REF_RGD_ID:629611 8788880 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:224 transient cerebral ischemia ISO RGD:631401 D RGD:9068941 20200609 RGD PMID:27798271|REF_RGD_ID:14398833 8788880 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1353270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial 8788880 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:630 genetic disease ISO RGD:1353270 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28915228 8788880 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1353270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome 8788880 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:9006551 Pseudohypoaldosteronism, Type IIB ISO RGD:1353270 D RGD:7240710 20180130 OMIM 8788880 Wnk4 WNK lysine deficient protein kinase 4 gene DOID:9006551 Pseudohypoaldosteronism, Type IIB ISO RGD:1353270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2B PMID:11498583|PMID:12107233|PMID:15110905|PMID:15292344|PMID:18547946|PMID:21236712|PMID:25741868|PMID:25741916|PMID:28492532|PMID:30773290|PMID:718348|PMID:9171836 8788903 Cep135 centrosomal protein 135 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1350849 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 8788903 Cep135 centrosomal protein 135 gene DOID:0070282 primary autosomal recessive microcephaly 8 ISO RGD:1350849 D RGD:7240710 20180130 OMIM 8788903 Cep135 centrosomal protein 135 gene DOID:0070282 primary autosomal recessive microcephaly 8 ISO RGD:1350849 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CEP135-related condition | ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive PMID:22521416|PMID:25741868|PMID:26657937|PMID:28492532|PMID:30214071|PMID:31696992|PMID:32643282 8788903 Cep135 centrosomal protein 135 gene DOID:630 genetic disease ISO RGD:1350849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22521416|PMID:25741868|PMID:26657937|PMID:28492532|PMID:31696992|PMID:9536098 8788936 CUNH1orf105 chromosome unknown C1orf105 homolog gene DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ISO RGD:1603371 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 PMID:25741868|PMID:25741900|PMID:27694521|PMID:28492532 8788936 CUNH1orf105 chromosome unknown C1orf105 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8788936 CUNH1orf105 chromosome unknown C1orf105 homolog gene DOID:630 genetic disease ISO RGD:1603371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8788936 CUNH1orf105 chromosome unknown C1orf105 homolog gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8788936 CUNH1orf105 chromosome unknown C1orf105 homolog gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8788936 CUNH1orf105 chromosome unknown C1orf105 homolog gene DOID:9008086 Developmental Disabilities ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741900 8788936 CUNH1orf105 chromosome unknown C1orf105 homolog gene DOID:9008386 Hydrops Fetalis ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 8788936 CUNH1orf105 chromosome unknown C1orf105 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8788947 Tmem86b transmembrane protein 86B gene DOID:0110936 nemaline myopathy 5A ISO RGD:1603160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type PMID:28492532 8788947 Tmem86b transmembrane protein 86B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1603160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8788947 Tmem86b transmembrane protein 86B gene DOID:630 genetic disease ISO RGD:1603160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788954 Polr3gl RNA polymerase III subunit GL gene DOID:0111027 hemochromatosis type 2A ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:28492532 8788954 Polr3gl RNA polymerase III subunit GL gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1353647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 8788954 Polr3gl RNA polymerase III subunit GL gene DOID:1540 parathyroid carcinoma ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8788954 Polr3gl RNA polymerase III subunit GL gene DOID:5419 schizophrenia ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8788954 Polr3gl RNA polymerase III subunit GL gene DOID:630 genetic disease ISO RGD:1353647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788954 Polr3gl RNA polymerase III subunit GL gene DOID:9000738 SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY ISO RGD:1353647 D RGD:7240710 20210421 OMIM 8788954 Polr3gl RNA polymerase III subunit GL gene DOID:9000738 SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY ISO RGD:1353647 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay PMID:25741868|PMID:31089205|PMID:31695177 8788954 Polr3gl RNA polymerase III subunit GL gene DOID:9007661 Dwarfism ISO RGD:1353647 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:31089205 8788954 Polr3gl RNA polymerase III subunit GL gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8788970 Mtx1 metaxin 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8788970 Mtx1 metaxin 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8788970 Mtx1 metaxin 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8788970 Mtx1 metaxin 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8788970 Mtx1 metaxin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8788970 Mtx1 metaxin 1 gene DOID:5812 MHC class II deficiency ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8788970 Mtx1 metaxin 1 gene DOID:630 genetic disease ISO RGD:1351611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788970 Mtx1 metaxin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8788985 Fdft1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 8788985 Fdft1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:5062 phencyclidine abuse ISO RGD:731891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8788985 Fdft1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:630 genetic disease ISO RGD:731891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788985 Fdft1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 8788985 Fdft1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:83 cataract ISO RGD:61834 D RGD:9068941 20200609 RGD PMID:16440058|REF_RGD_ID:1626611 8788985 Fdft1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:83 cataract ISO RGD:62125 D RGD:9068941 20200609 RGD PMID:16440058|REF_RGD_ID:1626611 8788985 Fdft1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8788985 Fdft1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8788985 Fdft1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9007732 Squalene Synthase Deficiency ISO RGD:731891 D RGD:7240710 20190626 OMIM 8788985 Fdft1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9007732 Squalene Synthase Deficiency ISO RGD:731891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FDFT1-related condition | ClinVar Annotator: match by term: Squalene synthase deficiency PMID:25741868|PMID:29909962|PMID:32027475 8788985 Fdft1 farnesyl-diphosphate farnesyltransferase 1 gene DOID:9505 cannabis abuse ISO RGD:731891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8788996 Sln sarcolipin gene DOID:1059 intellectual disability ISO RGD:1313124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8788996 Sln sarcolipin gene DOID:12704 ataxia telangiectasia ISO RGD:1313124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8788996 Sln sarcolipin gene DOID:630 genetic disease ISO RGD:1313124 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8788996 Sln sarcolipin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1313124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8789005 Myo6 myosin VI gene DOID:0050563 nonsyndromic deafness ISO RGD:1352294 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:12687499|PMID:18348273|PMID:23767834|PMID:24033266|PMID:25080041|PMID:25741868|PMID:25999546|PMID:26467025|PMID:28492532|PMID:30311386|PMID:30582396|PMID:33279834 8789005 Myo6 myosin VI gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1352294 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868 8789005 Myo6 myosin VI gene DOID:0080600 COVID-19 ISO RGD:1352294 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8789005 Myo6 myosin VI gene DOID:0110495 autosomal recessive nonsyndromic deafness 37 ISO RGD:1352294 D RGD:7240710 20180130 OMIM 8789005 Myo6 myosin VI gene DOID:0110495 autosomal recessive nonsyndromic deafness 37 ISO RGD:1352294 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition PMID:11167014|PMID:12687499|PMID:16199547|PMID:17576681|PMID:18212818|PMID:18348273|PMID:23767834|PMID:24033266|PMID:25080041|PMID:25741868|PMID:25741877|PMID:25999546|PMID:26445815|PMID:26467025|PMID:26944241|PMID:26969326|PMID:28492532|PMID:30311386|PMID:30582396|PMID:31589614|PMID:32143290|PMID:32747562|PMID:33279834|PMID:33724713|PMID:9536098 8789005 Myo6 myosin VI gene DOID:0110552 autosomal dominant nonsyndromic deafness 22 ISO RGD:1352294 D RGD:7240710 20180130 OMIM 8789005 Myo6 myosin VI gene DOID:0110552 autosomal dominant nonsyndromic deafness 22 ISO RGD:1352294 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 PMID:11167014|PMID:11468689|PMID:12687499|PMID:15123708|PMID:16199547|PMID:17576681|PMID:18212818|PMID:18348273|PMID:23767834|PMID:24033266|PMID:25080041|PMID:25741868|PMID:25741877|PMID:25999546|PMID:26445815|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30311386|PMID:30582396|PMID:31589614|PMID:32143290|PMID:32747562|PMID:33279834|PMID:33724713|PMID:35802133|PMID:36633841|PMID:9536098 8789005 Myo6 myosin VI gene DOID:10003 sensorineural hearing loss ISO RGD:1352294 D RGD:9068941 20200609 RGD DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y PMID:11468689|REF_RGD_ID:1600556 8789005 Myo6 myosin VI gene DOID:10283 prostate cancer ISO RGD:1352294 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland epithelium, perinuclear region of cytoplasm PMID:18543251|REF_RGD_ID:2314956 8789005 Myo6 myosin VI gene DOID:10763 hypertension ISO RGD:1560646 D RGD:9068941 20200609 RGD protein:altered localization:renal proximal tubule, microvillus PMID:16107581|REF_RGD_ID:2314963 8789005 Myo6 myosin VI gene DOID:12336 male infertility ISO RGD:1352294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098 8789005 Myo6 myosin VI gene DOID:2394 ovarian cancer disease_progression ISO RGD:1352294 D RGD:9068941 20200609 RGD PMID:15146066|REF_RGD_ID:2314958 8789005 Myo6 myosin VI gene DOID:303 substance-related disorder ISO RGD:1352294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8789005 Myo6 myosin VI gene DOID:4990 essential tremor ISO RGD:1352294 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:12687499|PMID:18348273|PMID:23767834|PMID:25080041|PMID:25741868|PMID:25999546|PMID:28492532|PMID:30582396|PMID:33279834 8789005 Myo6 myosin VI gene DOID:630 genetic disease ISO RGD:1352294 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11167014|PMID:18212818|PMID:23967202|PMID:24033266|PMID:25741868|PMID:25999546|PMID:26467025|PMID:28492532 8789005 Myo6 myosin VI gene DOID:9004538 Hearing Loss ISO RGD:1352294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098 8789005 Myo6 myosin VI gene DOID:9004538 Hearing Loss ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:12687499|PMID:17576681|PMID:18348273|PMID:21078986|PMID:23767834|PMID:24033266|PMID:25741868|PMID:25999546|PMID:28000701|PMID:28492532|PMID:30311386|PMID:30582396|PMID:32143290|PMID:9536098 8789005 Myo6 myosin VI gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1352294 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:25741868|PMID:28492532 8789005 Myo6 myosin VI gene DOID:9008768 Sensorineural Deafness with Hypertrophic Cardiomyopathy ISO RGD:1352294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness with hypertrophic cardiomyopathy PMID:15060111|PMID:18212818|PMID:18348273|PMID:24033266|PMID:28492532 8789045 Gpr132 G protein-coupled receptor 132 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1321937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8789045 Gpr132 G protein-coupled receptor 132 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1321937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8789045 Gpr132 G protein-coupled receptor 132 gene DOID:417 autoimmune disease ISO RGD:1321938 D RGD:9068941 20220825 MouseDO OMIM:109100 | OMIM:607836 | OMIM:613551 8789045 Gpr132 G protein-coupled receptor 132 gene DOID:630 genetic disease ISO RGD:1321937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789063 Daxx death domain associated protein gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1345950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8789063 Daxx death domain associated protein gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:1345950 D RGD:9068941 20220428 RGD human cell line in a mouse model PMID:26205068|REF_RGD_ID:152025200 8789063 Daxx death domain associated protein gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1345950 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8789063 Daxx death domain associated protein gene DOID:0080521 lung non-squamous non-small cell carcinoma exacerbates ISO RGD:1345950 D RGD:9068941 20220428 RGD protein:decreased expression:lung (human) PMID:28004751|REF_RGD_ID:152025202 8789063 Daxx death domain associated protein gene DOID:10283 prostate cancer disease_progression ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23642739|REF_RGD_ID:9587815 8789063 Daxx death domain associated protein gene DOID:10534 stomach cancer disease_progression ISO RGD:1345950 D RGD:9068941 20220428 RGD protein:decreased expression:stomach (human) PMID:32203224|REF_RGD_ID:152025201 8789063 Daxx death domain associated protein gene DOID:10534 stomach cancer exacerbates ISO RGD:1345950 D RGD:9068941 20220428 RGD protein:decreased expression:cytoplasm (human) PMID:28812328|REF_RGD_ID:152025197 8789063 Daxx death domain associated protein gene DOID:10534 stomach cancer severity ISO RGD:1345950 D RGD:9068941 20220428 RGD protein:altered expression:nucleus, cytoplasm (human) PMID:32641734|REF_RGD_ID:152025196 8789063 Daxx death domain associated protein gene DOID:11240 appendiceal neoplasm ISO RGD:1345950 D RGD:9068941 20220429 RGD DNA:CNV: (human) PMID:30962504|REF_RGD_ID:152025217 8789063 Daxx death domain associated protein gene DOID:1240 leukemia ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow: PMID:17306074|REF_RGD_ID:9587840 8789063 Daxx death domain associated protein gene DOID:169 neuroendocrine tumor ISO RGD:1345950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 8789063 Daxx death domain associated protein gene DOID:169 neuroendocrine tumor severity ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23954140|REF_RGD_ID:9587816 8789063 Daxx death domain associated protein gene DOID:1793 pancreatic cancer ISO RGD:1345950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 8789063 Daxx death domain associated protein gene DOID:1798 pancreatic endocrine carcinoma disease_progression ISO RGD:1345950 D RGD:9068941 20220428 RGD DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human) PMID:29212165|REF_RGD_ID:152025205 8789063 Daxx death domain associated protein gene DOID:1799 islet cell tumor disease_progression ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:21252315|REF_RGD_ID:9587819 8789063 Daxx death domain associated protein gene DOID:2152 ovary epithelial cancer ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23539629|REF_RGD_ID:9587820 8789063 Daxx death domain associated protein gene DOID:224 transient cerebral ischemia ISO RGD:621227 D RGD:9068941 20220527 RGD mRNA,protein:increased expression:cerebral cortex: PMID:18096138|REF_RGD_ID:4142863 8789063 Daxx death domain associated protein gene DOID:224 transient cerebral ischemia treatment ISO RGD:621227 D RGD:9068941 20200609 RGD PMID:17967739|REF_RGD_ID:9587802 8789063 Daxx death domain associated protein gene DOID:234 colon adenocarcinoma ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:decreased expression:colon: PMID:16569639|REF_RGD_ID:9587838 8789063 Daxx death domain associated protein gene DOID:2671 transitional cell carcinoma ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23819605|REF_RGD_ID:9587843 8789063 Daxx death domain associated protein gene DOID:3948 adrenocortical carcinoma ISO RGD:1345950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 8789063 Daxx death domain associated protein gene DOID:4468 clear cell adenocarcinoma ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:ovary: PMID:23539629|REF_RGD_ID:9587820 8789063 Daxx death domain associated protein gene DOID:630 genetic disease ISO RGD:1345950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789063 Daxx death domain associated protein gene DOID:9000558 Mucinous Cystadenoma ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:ovary: PMID:23539629|REF_RGD_ID:9587820 8789063 Daxx death domain associated protein gene DOID:9000659 Heavy Metal Toxicity ISO RGD:621227 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:17692352|REF_RGD_ID:9587799 8789063 Daxx death domain associated protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345950 D RGD:9068941 20200609 RGD PMID:23539629|REF_RGD_ID:9587820 8789063 Daxx death domain associated protein gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621227 D RGD:9068941 20200609 RGD PMID:21843499|REF_RGD_ID:9587791 8789063 Daxx death domain associated protein gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:ovary: PMID:23539629|REF_RGD_ID:9587820 8789063 Daxx death domain associated protein gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor severity ISO RGD:1345950 D RGD:9068941 20210618 RGD PMID:26026117|REF_RGD_ID:127285385 8789063 Daxx death domain associated protein gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:18480747|REF_RGD_ID:9587836 8789063 Daxx death domain associated protein gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:732822 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:18480747|REF_RGD_ID:9587836 8789063 Daxx death domain associated protein gene DOID:9006618 Liver Metastasis ISO RGD:1345950 D RGD:9068941 20220428 RGD associated with pancreatic endocrine carcinoma;DNA:mutations:CDS:multiple (human) PMID:30339629|REF_RGD_ID:152025203 8789063 Daxx death domain associated protein gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1345950 D RGD:9068941 20220428 RGD associated with colon cancer; mRNA:decreased expression:liver (human) PMID:31942198|REF_RGD_ID:152025194 8789063 Daxx death domain associated protein gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1345950 D RGD:9068941 20220428 RGD associated with neuroendocrine tumor;DNA:mutations:CDS:multiple (human) PMID:30342802|REF_RGD_ID:152025199 8789063 Daxx death domain associated protein gene DOID:9008844 Serous Cystadenoma ISO RGD:1345950 D RGD:9068941 20200609 RGD protein:increased expression:ovary: PMID:23539629|REF_RGD_ID:9587820 8789084 Rrp1 ribosomal RNA processing 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1605116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 8789084 Rrp1 ribosomal RNA processing 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8789084 Rrp1 ribosomal RNA processing 1 gene DOID:12849 autistic disorder ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8789084 Rrp1 ribosomal RNA processing 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8789084 Rrp1 ribosomal RNA processing 1 gene DOID:630 genetic disease ISO RGD:1605116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789084 Rrp1 ribosomal RNA processing 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1605116 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8789084 Rrp1 ribosomal RNA processing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8789084 Rrp1 ribosomal RNA processing 1 gene DOID:9263 homocystinuria ISO RGD:1605116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8789084 Rrp1 ribosomal RNA processing 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605116 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8789110 Capza1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1314786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8789110 Capza1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:13938 amenorrhea ISO RGD:1314786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8789110 Capza1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8789110 Capza1 capping actin protein of muscle Z-line subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1314786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789124 Hdac3 histone deacetylase 3 gene DOID:0070227 intrahepatic cholestasis of pregnancy severity ISO RGD:731326 D RGD:9068941 20200609 RGD PMID:28697498|REF_RGD_ID:14696655 8789124 Hdac3 histone deacetylase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8789124 Hdac3 histone deacetylase 3 gene DOID:10286 prostate carcinoma ISO RGD:731326 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18212746|REF_RGD_ID:2306214 8789124 Hdac3 histone deacetylase 3 gene DOID:114 heart disease ISO RGD:731326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18625706 8789124 Hdac3 histone deacetylase 3 gene DOID:12858 Huntington's disease ISO RGD:731327 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:22965876|REF_RGD_ID:10402189 8789124 Hdac3 histone deacetylase 3 gene DOID:12858 Huntington's disease ISO RGD:731327 D RGD:9068941 20200609 RGD protein:increased expression:striatum: PMID:22918830|REF_RGD_ID:9590098 8789124 Hdac3 histone deacetylase 3 gene DOID:1875 impotence ISO RGD:619977 D RGD:9068941 20200609 RGD protein:increased expression:penis: PMID:24636283|REF_RGD_ID:9590194 8789124 Hdac3 histone deacetylase 3 gene DOID:1909 melanoma ISO RGD:731327 D RGD:9068941 20200609 RGD associated with Anaphylaxis; PMID:24619412|REF_RGD_ID:9590165 8789124 Hdac3 histone deacetylase 3 gene DOID:2394 ovarian cancer ISO RGD:731326 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17387270|REF_RGD_ID:2306215 8789124 Hdac3 histone deacetylase 3 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:731326 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 8789124 Hdac3 histone deacetylase 3 gene DOID:289 endometriosis ISO RGD:731327 D RGD:9068941 20220825 MouseDO OMIM:131200 8789124 Hdac3 histone deacetylase 3 gene DOID:299 adenocarcinoma ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 8789124 Hdac3 histone deacetylase 3 gene DOID:3021 acute kidney failure ISO RGD:619977 D RGD:9068941 20200609 RGD PMID:21416250|REF_RGD_ID:10047111 8789124 Hdac3 histone deacetylase 3 gene DOID:3070 high grade glioma ISO RGD:731326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8789124 Hdac3 histone deacetylase 3 gene DOID:3070 high grade glioma disease_progression ISO RGD:731326 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:23685192|REF_RGD_ID:9590201 8789124 Hdac3 histone deacetylase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731326 D RGD:9068941 20200609 RGD PMID:24482232|REF_RGD_ID:9588265 8789124 Hdac3 histone deacetylase 3 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:731326 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 8789124 Hdac3 histone deacetylase 3 gene DOID:630 genetic disease ISO RGD:731326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10490031|PMID:17956988|PMID:24268577 8789124 Hdac3 histone deacetylase 3 gene DOID:6432 pulmonary hypertension ISO RGD:731326 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:22711276|REF_RGD_ID:9590133 8789124 Hdac3 histone deacetylase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 8789124 Hdac3 histone deacetylase 3 gene DOID:9000784 Fibrosis ISO RGD:619977 D RGD:9068941 20200609 RGD protein:increased expression:penis: PMID:24636283|REF_RGD_ID:9590194 8789124 Hdac3 histone deacetylase 3 gene DOID:9000918 Disease Progression ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 8789124 Hdac3 histone deacetylase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 8789124 Hdac3 histone deacetylase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731327 D RGD:9068941 20200609 RGD associated with Anaphylaxis; PMID:24619412|REF_RGD_ID:9590165 8789124 Hdac3 histone deacetylase 3 gene DOID:9001981 Weight Loss ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 8789124 Hdac3 histone deacetylase 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:619977 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:23716065|REF_RGD_ID:9588620 8789124 Hdac3 histone deacetylase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8789124 Hdac3 histone deacetylase 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731326 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34973135 8789124 Hdac3 histone deacetylase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:619977 D RGD:9068941 20200609 RGD PMID:21763752|REF_RGD_ID:9590183 8789124 Hdac3 histone deacetylase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731326 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8789124 Hdac3 histone deacetylase 3 gene DOID:9007278 Anaphylaxis ISO RGD:731327 D RGD:9068941 20200609 RGD PMID:24619412|REF_RGD_ID:9590165 8789124 Hdac3 histone deacetylase 3 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:731327 D RGD:9068941 20230209 RGD PMID:33982231|REF_RGD_ID:155883171 8789124 Hdac3 histone deacetylase 3 gene DOID:9256 colorectal cancer ISO RGD:731326 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 8789124 Hdac3 histone deacetylase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731326 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic beta cell: PMID:22772764|REF_RGD_ID:9590127 8789158 Nudt17 nudix hydrolase 17 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1350013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 8789158 Nudt17 nudix hydrolase 17 gene DOID:1540 parathyroid carcinoma ISO RGD:1350013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8789158 Nudt17 nudix hydrolase 17 gene DOID:5419 schizophrenia ISO RGD:1350013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8789158 Nudt17 nudix hydrolase 17 gene DOID:630 genetic disease ISO RGD:1350013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789158 Nudt17 nudix hydrolase 17 gene DOID:9008939 Breast Neoplasms ISO RGD:1350013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8789158 Nudt17 nudix hydrolase 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8789175 Batf basic leucine zipper ATF-like transcription factor gene DOID:1059 intellectual disability ISO RGD:1312643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8789175 Batf basic leucine zipper ATF-like transcription factor gene DOID:630 genetic disease ISO RGD:1312643 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789182 Unkl unk like zinc finger gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8789182 Unkl unk like zinc finger gene DOID:0080678 mucolipidosis III gamma ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM 8789182 Unkl unk like zinc finger gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8789182 Unkl unk like zinc finger gene DOID:1826 epilepsy ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8789182 Unkl unk like zinc finger gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8789182 Unkl unk like zinc finger gene DOID:630 genetic disease ISO RGD:1604323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789209 Ube4a ubiquitination factor E4A gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8789209 Ube4a ubiquitination factor E4A gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8789209 Ube4a ubiquitination factor E4A gene DOID:0080690 RASopathy ISO RGD:1351066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8789209 Ube4a ubiquitination factor E4A gene DOID:0081330 glycogen storage disease Ib ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8789209 Ube4a ubiquitination factor E4A gene DOID:0110651 long QT syndrome 10 ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8789209 Ube4a ubiquitination factor E4A gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8789209 Ube4a ubiquitination factor E4A gene DOID:0111971 immunodeficiency 18 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8789209 Ube4a ubiquitination factor E4A gene DOID:0111972 immunodeficiency 19 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8789209 Ube4a ubiquitination factor E4A gene DOID:0111973 immunodeficiency 17 ISO RGD:1351066 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8789209 Ube4a ubiquitination factor E4A gene DOID:1059 intellectual disability ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8789209 Ube4a ubiquitination factor E4A gene DOID:1826 epilepsy ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:33420346 8789209 Ube4a ubiquitination factor E4A gene DOID:630 genetic disease ISO RGD:1351066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789209 Ube4a ubiquitination factor E4A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8789209 Ube4a ubiquitination factor E4A gene DOID:9004263 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ISO RGD:1351066 D RGD:7240710 20220216 OMIM 8789209 Ube4a ubiquitination factor E4A gene DOID:9004263 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ISO RGD:1351066 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay PMID:25741868|PMID:27431290|PMID:33420346 8789209 Ube4a ubiquitination factor E4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8789209 Ube4a ubiquitination factor E4A gene DOID:9007661 Dwarfism ISO RGD:1351066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8789233 Ovol3 ovo like zinc finger 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:5683924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8789233 Ovol3 ovo like zinc finger 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:5683924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8789255 Irf9 interferon regulatory factor 9 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8789255 Irf9 interferon regulatory factor 9 gene DOID:0111978 immunodeficiency 65 ISO RGD:1318730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 65, susceptibility to viral infections PMID:30143481|PMID:30826365 8789255 Irf9 interferon regulatory factor 9 gene DOID:0111978 immunodeficiency 65 susceptibility ISO RGD:1318730 D RGD:7240710 20191127 OMIM 8789255 Irf9 interferon regulatory factor 9 gene DOID:1168 familial hyperlipidemia ISO RGD:1308766 D RGD:9068941 20210402 RGD associated with acute pancreatitis;protein:increased expression:kidney PMID:32462510|REF_RGD_ID:125093744 8789255 Irf9 interferon regulatory factor 9 gene DOID:11984 hypertrophic cardiomyopathy ameliorates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:24144649|REF_RGD_ID:125093743 8789255 Irf9 interferon regulatory factor 9 gene DOID:11984 hypertrophic cardiomyopathy exacerbates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:24144649|REF_RGD_ID:125093743 8789255 Irf9 interferon regulatory factor 9 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 8789255 Irf9 interferon regulatory factor 9 gene DOID:12155 lymphocytic choriomeningitis ameliorates ISO RGD:1318731 D RGD:9068941 20210326 RGD PMID:22496215|REF_RGD_ID:124715469 8789255 Irf9 interferon regulatory factor 9 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1318731 D RGD:9068941 20210326 RGD DNA:mutation: : PMID:28878077|REF_RGD_ID:124715467 8789255 Irf9 interferon regulatory factor 9 gene DOID:1883 hepatitis C ISO RGD:1318730 D RGD:9068941 20210326 RGD protein:increased expression:liver PMID:26216956|REF_RGD_ID:11074283 8789255 Irf9 interferon regulatory factor 9 gene DOID:2913 acute pancreatitis ISO RGD:1308766 D RGD:9068941 20210402 RGD mRNA,protein:increased expression:kidney PMID:32462510|REF_RGD_ID:125093744 8789255 Irf9 interferon regulatory factor 9 gene DOID:630 genetic disease ISO RGD:1318730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8789255 Irf9 interferon regulatory factor 9 gene DOID:8704 genital herpes exacerbates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:28264883|REF_RGD_ID:125093738 8789255 Irf9 interferon regulatory factor 9 gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:1318731 D RGD:9068941 20210326 RGD PMID:25918247|REF_RGD_ID:124715468 8789255 Irf9 interferon regulatory factor 9 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318730 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8789255 Irf9 interferon regulatory factor 9 gene DOID:9000438 Subarachnoid Hemorrhage ameliorates ISO RGD:1308766 D RGD:9068941 20210402 RGD PMID:29480757|REF_RGD_ID:125093745 8789255 Irf9 interferon regulatory factor 9 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318730 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8789255 Irf9 interferon regulatory factor 9 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1318730 D RGD:9068941 20210402 RGD protein:increased expression:left ventricular free wall PMID:25150882|REF_RGD_ID:125093742 8789255 Irf9 interferon regulatory factor 9 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:25150882|REF_RGD_ID:125093742 8789255 Irf9 interferon regulatory factor 9 gene DOID:9007838 Myocardial Reperfusion Injury exacerbates ISO RGD:1318731 D RGD:9068941 20210402 RGD PMID:25150882|REF_RGD_ID:125093742 8789275 TNF tumor necrosis factor gene DOID:14453 farmer's lung ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased activity:serum PMID:11179110|REF_RGD_ID:4143374 8789275 Tnf tumor necrosis factor gene DOID:0040084 Streptococcus pneumonia ISO RGD:11429 D RGD:9068941 20201117 RGD protein:increased expression:lung,natural killer cell (mouse) PMID:21887255|REF_RGD_ID:40818252 8789275 Tnf tumor necrosis factor gene DOID:0050117 disease by infectious agent ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16513158 8789275 Tnf tumor necrosis factor gene DOID:0050152 aspiration pneumonia ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:18042282|REF_RGD_ID:4142854 8789275 Tnf tumor necrosis factor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1344192 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:8473757 8789275 Tnf tumor necrosis factor gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:blister: PMID:9852250|REF_RGD_ID:7401184 8789275 Tnf tumor necrosis factor gene DOID:0050452 mevalonic aciduria ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:7780142|REF_RGD_ID:9585642 8789275 Tnf tumor necrosis factor gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15223607|REF_RGD_ID:9150949 8789275 Tnf tumor necrosis factor gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1344192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8789275 Tnf tumor necrosis factor gene DOID:0050589 inflammatory bowel disease ISO RGD:11429 D RGD:9068941 20220825 MouseDO 8789275 Tnf tumor necrosis factor gene DOID:0050589 inflammatory bowel disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15086448|PMID:27793764 8789275 Tnf tumor necrosis factor gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:12184521|REF_RGD_ID:10450573 8789275 Tnf tumor necrosis factor gene DOID:0050642 hypochromic microcytic anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:18205195|REF_RGD_ID:10450526 8789275 Tnf tumor necrosis factor gene DOID:0050685 small cell carcinoma severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:decreased secretion:whole blood PMID:8624296|REF_RGD_ID:4142840 8789275 Tnf tumor necrosis factor gene DOID:0050697 chorioamnionitis no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human) PMID:15128916|REF_RGD_ID:12904055 8789275 Tnf tumor necrosis factor gene DOID:0050697 chorioamnionitis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human) PMID:15128916|REF_RGD_ID:12904055 8789275 Tnf tumor necrosis factor gene DOID:0050700 cardiomyopathy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 8789275 Tnf tumor necrosis factor gene DOID:0050700 cardiomyopathy treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24441175|REF_RGD_ID:10450596 8789275 Tnf tumor necrosis factor gene DOID:0050848 obstructive sleep apnea ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14633242|PMID:20846669|REF_RGD_ID:4142857|REF_RGD_ID:4143435 8789275 Tnf tumor necrosis factor gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: c.-308G>A (human) PMID:19022640|REF_RGD_ID:4143442 8789275 Tnf tumor necrosis factor gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:3876 D RGD:9068941 20220715 RGD associated with social isolation;protein:increased expression:tongue (rat) PMID:33411841|REF_RGD_ID:152998999 8789275 Tnf tumor necrosis factor gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24119107|REF_RGD_ID:10059681 8789275 Tnf tumor necrosis factor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:10697556|REF_RGD_ID:10450881 8789275 Tnf tumor necrosis factor gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15888251|REF_RGD_ID:10450530 8789275 Tnf tumor necrosis factor gene DOID:0060180 colitis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507|PMID:24548422 8789275 Tnf tumor necrosis factor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8789275 Tnf tumor necrosis factor gene DOID:0060224 atrial fibrillation ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Heart Valve Diseases;protein:increased expression:right atrium: PMID:19169931|REF_RGD_ID:7401239 8789275 Tnf tumor necrosis factor gene DOID:0060319 cardiac arrest ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9806674 8789275 Tnf tumor necrosis factor gene DOID:0060319 cardiac arrest ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:18679114|REF_RGD_ID:4889454 8789275 Tnf tumor necrosis factor gene DOID:0060496 respiratory allergy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 8789275 Tnf tumor necrosis factor gene DOID:0060500 drug allergy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11294926|PMID:20485159 8789275 Tnf tumor necrosis factor gene DOID:0060643 primary sclerosing cholangitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 8789275 Tnf tumor necrosis factor gene DOID:0060903 thrombosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19691487 8789275 Tnf tumor necrosis factor gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23627780 8789275 Tnf tumor necrosis factor gene DOID:0080158 herpes simplex virus keratitis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:12162877|REF_RGD_ID:8157603 8789275 Tnf tumor necrosis factor gene DOID:0080158 herpes simplex virus keratitis ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:10624423|REF_RGD_ID:7401196 8789275 Tnf tumor necrosis factor gene DOID:0080160 cytomegalovirus retinitis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:22072377|REF_RGD_ID:7394768 8789275 Tnf tumor necrosis factor gene DOID:0080160 cytomegalovirus retinitis ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:eye: PMID:17389501|REF_RGD_ID:7394808 8789275 Tnf tumor necrosis factor gene DOID:0080162 lupus nephritis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:glomerular mesangial cell PMID:7750940|REF_RGD_ID:7394786 8789275 Tnf tumor necrosis factor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1344192 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32613381 8789275 Tnf tumor necrosis factor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum, liver (rat) PMID:19034968|REF_RGD_ID:14995482 8789275 Tnf tumor necrosis factor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with morbid obesity PMID:25894568|REF_RGD_ID:14975151 8789275 Tnf tumor necrosis factor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:25219124|REF_RGD_ID:10450574 8789275 Tnf tumor necrosis factor gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:11429 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 8789275 Tnf tumor necrosis factor gene DOID:0080547 metabolic dysfunction-associated steatohepatitis susceptibility ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 8789275 Tnf tumor necrosis factor gene DOID:0080599 Coronavirus infectious disease ISO RGD:11429 D RGD:9068941 20200618 RGD PMID:19906920|REF_RGD_ID:4891446 8789275 Tnf tumor necrosis factor gene DOID:0080600 COVID-19 ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 8789275 Tnf tumor necrosis factor gene DOID:0080600 COVID-19 disease_progression ISO RGD:1344192 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 8789275 Tnf tumor necrosis factor gene DOID:0080600 COVID-19 severity ISO RGD:1344192 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8789275 Tnf tumor necrosis factor gene DOID:0080600 COVID-19 severity ISO RGD:1344192 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|PMID:32427582|REF_RGD_ID:30309200|REF_RGD_ID:30310229 8789275 Tnf tumor necrosis factor gene DOID:0080642 Middle East respiratory syndrome ISO RGD:11429 D RGD:9068941 20200625 RGD protein:increased expression:serum: PMID:30634407|REF_RGD_ID:30309958 8789275 Tnf tumor necrosis factor gene DOID:0080745 polymyositis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8789275 Tnf tumor necrosis factor gene DOID:0080750 erythema nodosum susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Inflammatory Bowel Diseases;DNA:polymorphisms: :-1031T>C(human) PMID:12198697|REF_RGD_ID:7364926 8789275 Tnf tumor necrosis factor gene DOID:0080820 occupational asthma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 8789275 Tnf tumor necrosis factor gene DOID:0080855 Parkinsonism treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:21831964|PMID:28338241|REF_RGD_ID:13503338|REF_RGD_ID:7247422 8789275 Tnf tumor necrosis factor gene DOID:0081120 Graves ophthalmopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8444271|REF_RGD_ID:7794734 8789275 Tnf tumor necrosis factor gene DOID:0081120 Graves ophthalmopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-863C>A (human) PMID:16191343|REF_RGD_ID:12904066 8789275 Tnf tumor necrosis factor gene DOID:0081120 Graves ophthalmopathy susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A (rs361525) (human) PMID:15219383|REF_RGD_ID:7365073 8789275 Tnf tumor necrosis factor gene DOID:0081292 traumatic brain injury ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 8789275 Tnf tumor necrosis factor gene DOID:0110429 dilated cardiomyopathy 1H severity ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:14676433|REF_RGD_ID:7401234 8789275 Tnf tumor necrosis factor gene DOID:10003 sensorineural hearing loss ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16988499|PMID:23165380|REF_RGD_ID:7387303|REF_RGD_ID:7394704 8789275 Tnf tumor necrosis factor gene DOID:10003 sensorineural hearing loss ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Hearing Loss, Sensorineural;protein:increased expression:serum: PMID:19684145|REF_RGD_ID:8142347 8789275 Tnf tumor necrosis factor gene DOID:10140 dry eye syndrome treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:23211823|REF_RGD_ID:8694422 8789275 Tnf tumor necrosis factor gene DOID:10223 dermatomyositis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035492 8789275 Tnf tumor necrosis factor gene DOID:1024 leprosy susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−308G>A (human) PMID:20650301|REF_RGD_ID:8694069 8789275 Tnf tumor necrosis factor gene DOID:10241 thalassemia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11732868|REF_RGD_ID:10450569 8789275 Tnf tumor necrosis factor gene DOID:10247 pleurisy ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:11161459|REF_RGD_ID:4143474 8789275 Tnf tumor necrosis factor gene DOID:10247 pleurisy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:15380531 8789275 Tnf tumor necrosis factor gene DOID:10247 pleurisy ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:20141620|REF_RGD_ID:4142808 8789275 Tnf tumor necrosis factor gene DOID:10283 prostate cancer ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:19851870|REF_RGD_ID:2315114 8789275 Tnf tumor necrosis factor gene DOID:10320 asbestosis ISO RGD:1344192 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:20486865|PMID:8473757 8789275 Tnf tumor necrosis factor gene DOID:10322 berylliosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12449171|PMID:15127972|PMID:16980557|PMID:8428540 8789275 Tnf tumor necrosis factor gene DOID:10325 silicosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:11264025|REF_RGD_ID:4142816 8789275 Tnf tumor necrosis factor gene DOID:10325 silicosis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:25199287|REF_RGD_ID:10450591 8789275 Tnf tumor necrosis factor gene DOID:10327 anthracosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 8789275 Tnf tumor necrosis factor gene DOID:10533 viral pneumonia treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:25219125|REF_RGD_ID:10450576 8789275 Tnf tumor necrosis factor gene DOID:10591 pre-eclampsia ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15901845|REF_RGD_ID:1580314 8789275 Tnf tumor necrosis factor gene DOID:10591 pre-eclampsia ameliorates ISO RGD:3876 D RGD:9068941 20230323 RGD PMID:31203154|REF_RGD_ID:213230155 8789275 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, protection against PMID:10400991|PMID:16908746 8789275 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-308G>A(human) PMID:15468911|REF_RGD_ID:13825256 8789275 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:multiple(human) PMID:18834925|REF_RGD_ID:13825257 8789275 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease onset ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-308G>A(human) PMID:16516271|REF_RGD_ID:13825253 8789275 Tnf tumor necrosis factor gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-308G>A(human) PMID:18992723|REF_RGD_ID:13825248 8789275 Tnf tumor necrosis factor gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-308G>A(rs1800629)(human) PMID:20357201|REF_RGD_ID:7387247 8789275 Tnf tumor necrosis factor gene DOID:1070 primary open angle glaucoma ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter:-857C>T, -863C>A (human) PMID:15557444|REF_RGD_ID:7775041 8789275 Tnf tumor necrosis factor gene DOID:1073 renal hypertension ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22188107|REF_RGD_ID:6907405 8789275 Tnf tumor necrosis factor gene DOID:10754 otitis media IEP D RGD:11553900|PMID:10085040 20161017 RGD 8789275 Tnf tumor necrosis factor gene DOID:10762 portal hypertension ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach (rat) PMID:9198288|PMID:9834372|REF_RGD_ID:14688051|REF_RGD_ID:14995426 8789275 Tnf tumor necrosis factor gene DOID:10762 portal hypertension treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:10070045|PMID:7875478|PMID:9537427|REF_RGD_ID:14975128|REF_RGD_ID:14985259|REF_RGD_ID:14995425 8789275 Tnf tumor necrosis factor gene DOID:10763 hypertension ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16202847|REF_RGD_ID:1580312 8789275 Tnf tumor necrosis factor gene DOID:10763 hypertension ISO RGD:1344192 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:18605955|PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540 8789275 Tnf tumor necrosis factor gene DOID:10763 hypertension ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:9590569|REF_RGD_ID:1357163 8789275 Tnf tumor necrosis factor gene DOID:10763 hypertension ameliorates ISO RGD:3876 D RGD:9068941 20230831 RGD associated with Cardiac Fibrosis PMID:25715999|REF_RGD_ID:401794570 8789275 Tnf tumor necrosis factor gene DOID:10763 hypertension treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16415373|REF_RGD_ID:1580207 8789275 Tnf tumor necrosis factor gene DOID:10808 gastric ulcer ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138204 8789275 Tnf tumor necrosis factor gene DOID:10825 essential hypertension ISO RGD:1344192 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 8789275 Tnf tumor necrosis factor gene DOID:10923 sickle cell anemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14965870 8789275 Tnf tumor necrosis factor gene DOID:10923 sickle cell anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8140855|REF_RGD_ID:10449460 8789275 Tnf tumor necrosis factor gene DOID:10941 intracranial aneurysm treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24628611|REF_RGD_ID:10450592 8789275 Tnf tumor necrosis factor gene DOID:10964 cholesteatoma of middle ear ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Otitis Media;protein:increased expression:ear: PMID:21311206|REF_RGD_ID:7364848 8789275 Tnf tumor necrosis factor gene DOID:11054 urinary bladder cancer ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1674182 8789275 Tnf tumor necrosis factor gene DOID:1115 sarcoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15675481|PMID:16767912|PMID:17203757|PMID:9794839 8789275 Tnf tumor necrosis factor gene DOID:11168 anogenital venereal wart ISO RGD:1344192 D RGD:9068941 20201105 RGD protein:increased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 8789275 Tnf tumor necrosis factor gene DOID:1123 spondyloarthropathy ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:106300 8789275 Tnf tumor necrosis factor gene DOID:11247 disseminated intravascular coagulation severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Hemorrhagic Fever, Crimean PMID:16518755|REF_RGD_ID:10450536 8789275 Tnf tumor necrosis factor gene DOID:11263 chlamydia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 8789275 Tnf tumor necrosis factor gene DOID:11265 trachoma ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:−308G>A (human) PMID:17330135|REF_RGD_ID:8548830 8789275 Tnf tumor necrosis factor gene DOID:11372 megacolon ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8789275 Tnf tumor necrosis factor gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD associated lung injury; DNA:polymorphism:promoter: PMID:16135717|REF_RGD_ID:4143247 8789275 Tnf tumor necrosis factor gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 8789275 Tnf tumor necrosis factor gene DOID:11396 pulmonary edema ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:9628235|REF_RGD_ID:4142833 8789275 Tnf tumor necrosis factor gene DOID:11396 pulmonary edema ISO RGD:1344192 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21188088|PMID:34390737 8789275 Tnf tumor necrosis factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22173123|REF_RGD_ID:7364836 8789275 Tnf tumor necrosis factor gene DOID:11573 listeriosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16751399 8789275 Tnf tumor necrosis factor gene DOID:11650 bronchopulmonary dysplasia no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:15286263|REF_RGD_ID:12904049 8789275 Tnf tumor necrosis factor gene DOID:11650 bronchopulmonary dysplasia severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238A>G (human) PMID:15286263|REF_RGD_ID:12904049 8789275 Tnf tumor necrosis factor gene DOID:11656 cicatricial pemphigoid ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:Conjunctiva: PMID:7750940|REF_RGD_ID:7394786 8789275 Tnf tumor necrosis factor gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:c.-308G>A (human) PMID:18575614|REF_RGD_ID:2313255 8789275 Tnf tumor necrosis factor gene DOID:11758 iron deficiency anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs1800629 (human) PMID:18716131|REF_RGD_ID:10450563 8789275 Tnf tumor necrosis factor gene DOID:11823 hepatorenal syndrome ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18093430|REF_RGD_ID:4144102 8789275 Tnf tumor necrosis factor gene DOID:11832 visual epilepsy ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 8789275 Tnf tumor necrosis factor gene DOID:11832 visual epilepsy ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 8789275 Tnf tumor necrosis factor gene DOID:11963 esophagitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human) PMID:20811626|REF_RGD_ID:5131286 8789275 Tnf tumor necrosis factor gene DOID:1205 allergic disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16095146|PMID:21625544 8789275 Tnf tumor necrosis factor gene DOID:12098 trigeminal neuralgia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8789275 Tnf tumor necrosis factor gene DOID:12236 primary biliary cholangitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 8789275 Tnf tumor necrosis factor gene DOID:12236 primary biliary cholangitis ISO RGD:1344192 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 8789275 Tnf tumor necrosis factor gene DOID:12241 beta thalassemia ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms:3' utr PMID:19103526|REF_RGD_ID:10449458 8789275 Tnf tumor necrosis factor gene DOID:1227 neutropenia ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15986200|REF_RGD_ID:1580321 8789275 Tnf tumor necrosis factor gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with uveitis;protein:increased expression:aqueous humor: PMID:21334264|REF_RGD_ID:8142356 8789275 Tnf tumor necrosis factor gene DOID:12306 vitiligo ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 8789275 Tnf tumor necrosis factor gene DOID:12306 vitiligo ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16911396|REF_RGD_ID:7794736 8789275 Tnf tumor necrosis factor gene DOID:12351 alcoholic hepatitis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12586603 8789275 Tnf tumor necrosis factor gene DOID:12351 alcoholic hepatitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8789275 Tnf tumor necrosis factor gene DOID:12361 Graves' disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-308G>A(rs1800629)(human) PMID:15219383|REF_RGD_ID:7365073 8789275 Tnf tumor necrosis factor gene DOID:12361 Graves' disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs: :-238G>A(rs361525),419G>A(rs3093661)(human) PMID:19732761|REF_RGD_ID:7394807 8789275 Tnf tumor necrosis factor gene DOID:12361 Graves' disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism: :-863A>C PMID:17348243|REF_RGD_ID:7394790 8789275 Tnf tumor necrosis factor gene DOID:12365 malaria ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to PMID:10369255|PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 8789275 Tnf tumor necrosis factor gene DOID:12365 malaria susceptibility ISO RGD:1344192 D RGD:7240710 20190502 OMIM 8789275 Tnf tumor necrosis factor gene DOID:12449 aplastic anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:12941546|REF_RGD_ID:10449452 8789275 Tnf tumor necrosis factor gene DOID:12549 hepatitis A ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 8789275 Tnf tumor necrosis factor gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 8789275 Tnf tumor necrosis factor gene DOID:12662 paracoccidioidomycosis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−308G>A(human) PMID:17145373|REF_RGD_ID:7401182 8789275 Tnf tumor necrosis factor gene DOID:12678 hypercalcemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10638776 8789275 Tnf tumor necrosis factor gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:decreased expression:blood, lymphocyte PMID:16611101|REF_RGD_ID:10450733 8789275 Tnf tumor necrosis factor gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar lavage fluid PMID:15791294|REF_RGD_ID:4145715 8789275 Tnf tumor necrosis factor gene DOID:12732 intermediate uveitis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs: :rs361525,rs1800629(human) PMID:23378732|REF_RGD_ID:7365041 8789275 Tnf tumor necrosis factor gene DOID:12783 migraine without aura ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:14718719|REF_RGD_ID:1580316 8789275 Tnf tumor necrosis factor gene DOID:12800 mucopolysaccharidosis VI treatment ISO RGD:3876 D RGD:9068941 20210514 RGD PMID:21887218|REF_RGD_ID:39131283 8789275 Tnf tumor necrosis factor gene DOID:12849 autistic disorder treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:26418275|REF_RGD_ID:12792236 8789275 Tnf tumor necrosis factor gene DOID:12894 Sjogren's syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1031T>C(human) PMID:22703762|REF_RGD_ID:7394766 8789275 Tnf tumor necrosis factor gene DOID:12894 Sjogren's syndrome treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24941846|REF_RGD_ID:10450595 8789275 Tnf tumor necrosis factor gene DOID:12895 keratoconjunctivitis sicca ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva: PMID:10487957|REF_RGD_ID:7829756 8789275 Tnf tumor necrosis factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:14984724|REF_RGD_ID:7401238 8789275 Tnf tumor necrosis factor gene DOID:13088 periventricular leukomalacia ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8652010|REF_RGD_ID:12904655 8789275 Tnf tumor necrosis factor gene DOID:13088 periventricular leukomalacia ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15765524|REF_RGD_ID:1580604 8789275 Tnf tumor necrosis factor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21221075|REF_RGD_ID:7245511 8789275 Tnf tumor necrosis factor gene DOID:13141 uveitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:1318867|PMID:20673052|REF_RGD_ID:7394761|REF_RGD_ID:7401178 8789275 Tnf tumor necrosis factor gene DOID:13141 uveitis ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; protein:increased expression:serum: PMID:15209464|REF_RGD_ID:7387294 8789275 Tnf tumor necrosis factor gene DOID:13141 uveitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:8125721|REF_RGD_ID:7401166 8789275 Tnf tumor necrosis factor gene DOID:13141 uveitis disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum,Aqueous Humor: PMID:11586057|REF_RGD_ID:7394806 8789275 Tnf tumor necrosis factor gene DOID:13141 uveitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:19440225|REF_RGD_ID:13825264 8789275 Tnf tumor necrosis factor gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:8699818|REF_RGD_ID:7794730 8789275 Tnf tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:20601837|REF_RGD_ID:7394759 8789275 Tnf tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:12632436|REF_RGD_ID:12904036 8789275 Tnf tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Uveitis;protein:increased expression:aqueous humor: PMID:21334264|REF_RGD_ID:8142356 8789275 Tnf tumor necrosis factor gene DOID:13241 Behcet's disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14600787|REF_RGD_ID:7401213 8789275 Tnf tumor necrosis factor gene DOID:13241 Behcet's disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:12770792|REF_RGD_ID:12904048 8789275 Tnf tumor necrosis factor gene DOID:13241 Behcet's disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human) PMID:15875188|REF_RGD_ID:12904040 8789275 Tnf tumor necrosis factor gene DOID:13258 typhoid fever susceptibility ISO RGD:1344192 D RGD:9068941 20200716 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) PMID:11120931|REF_RGD_ID:36049756 8789275 Tnf tumor necrosis factor gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20416219|REF_RGD_ID:4145765 8789275 Tnf tumor necrosis factor gene DOID:13378 Kawasaki disease ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:14703611|PMID:8777922|REF_RGD_ID:1580318|REF_RGD_ID:7401221 8789275 Tnf tumor necrosis factor gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-308G>A (human) PMID:18710885|REF_RGD_ID:9495921 8789275 Tnf tumor necrosis factor gene DOID:13378 Kawasaki disease treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:14744383|REF_RGD_ID:7401183 8789275 Tnf tumor necrosis factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15653992|REF_RGD_ID:4143466 8789275 Tnf tumor necrosis factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:20070603|REF_RGD_ID:4143236 8789275 Tnf tumor necrosis factor gene DOID:13413 hepatic encephalopathy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16338762|PMID:9696492 8789275 Tnf tumor necrosis factor gene DOID:13452 scleritis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:23177360|REF_RGD_ID:7394776 8789275 Tnf tumor necrosis factor gene DOID:13544 low tension glaucoma ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter: -863C>A (human) PMID:15557444|REF_RGD_ID:7775041 8789275 Tnf tumor necrosis factor gene DOID:13580 cholestasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 8789275 Tnf tumor necrosis factor gene DOID:13619 extrahepatic cholestasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8789275 Tnf tumor necrosis factor gene DOID:13636 Fanconi anemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22628295 8789275 Tnf tumor necrosis factor gene DOID:13636 Fanconi anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24021704|PMID:8438880|REF_RGD_ID:10450524|REF_RGD_ID:11049161 8789275 Tnf tumor necrosis factor gene DOID:13677 SAPHO syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27108452 8789275 Tnf tumor necrosis factor gene DOID:13949 interstitial cystitis treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:16622179|REF_RGD_ID:7245525 8789275 Tnf tumor necrosis factor gene DOID:13976 peptic esophagitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15942680|REF_RGD_ID:1580209 8789275 Tnf tumor necrosis factor gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 8789275 Tnf tumor necrosis factor gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:1984482|REF_RGD_ID:10450571 8789275 Tnf tumor necrosis factor gene DOID:1407 anterior uveitis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:-857 C>T (human) PMID:15851552|REF_RGD_ID:8548818 8789275 Tnf tumor necrosis factor gene DOID:14115 toxic shock syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20054000 8789275 Tnf tumor necrosis factor gene DOID:14115 toxic shock syndrome ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal macrophage, cell surface (rat) PMID:12622907|REF_RGD_ID:1598936 8789275 Tnf tumor necrosis factor gene DOID:14115 toxic shock syndrome treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:2213560|REF_RGD_ID:10449465 8789275 Tnf tumor necrosis factor gene DOID:14330 Parkinson's disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 8789275 Tnf tumor necrosis factor gene DOID:14453 farmer's lung ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased secretion:macrophage PMID:8466130|REF_RGD_ID:4143375 8789275 Tnf tumor necrosis factor gene DOID:14550 root resorption ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22372265|REF_RGD_ID:13825431 8789275 Tnf tumor necrosis factor gene DOID:1468 labyrinthitis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression: cochleas, endolymphatic sac: PMID:12943369|REF_RGD_ID:7394706 8789275 Tnf tumor necrosis factor gene DOID:1485 cystic fibrosis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:7537567|REF_RGD_ID:4142846 8789275 Tnf tumor necrosis factor gene DOID:1485 cystic fibrosis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:−308G>A (rs1800629) (human) PMID:21993476|REF_RGD_ID:6767553 8789275 Tnf tumor necrosis factor gene DOID:1555 urticaria ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561|PMID:19250144|PMID:20485159 8789275 Tnf tumor necrosis factor gene DOID:1579 respiratory system disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22414385 8789275 Tnf tumor necrosis factor gene DOID:1588 thrombocytopenia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Hemorrhagic Fever with Renal Syndrome;DNA:SNP:promoter:-238G>A (human) PMID:16987073|REF_RGD_ID:10449459 8789275 Tnf tumor necrosis factor gene DOID:1588 thrombocytopenia severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Malaria, Vivax PMID:25128199|REF_RGD_ID:11041893 8789275 Tnf tumor necrosis factor gene DOID:1612 breast cancer ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19967414|REF_RGD_ID:2315111 8789275 Tnf tumor necrosis factor gene DOID:1612 breast cancer no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:17216494|REF_RGD_ID:8548779 8789275 Tnf tumor necrosis factor gene DOID:1612 breast cancer no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:multiple PMID:11841482|REF_RGD_ID:8548791 8789275 Tnf tumor necrosis factor gene DOID:1612 breast cancer susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :rs361525 (human) PMID:17216494|REF_RGD_ID:8548779 8789275 Tnf tumor necrosis factor gene DOID:1612 breast cancer susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:-308G>A (human) PMID:18409070|REF_RGD_ID:8548786 8789275 Tnf tumor necrosis factor gene DOID:1679 cystitis ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:11948286|REF_RGD_ID:6907118 8789275 Tnf tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:17151265|REF_RGD_ID:7394785 8789275 Tnf tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:20574020|REF_RGD_ID:7394760 8789275 Tnf tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22802951|REF_RGD_ID:7394770 8789275 Tnf tumor necrosis factor gene DOID:1686 glaucoma ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:20574020|REF_RGD_ID:7394760 8789275 Tnf tumor necrosis factor gene DOID:1712 aortic valve stenosis ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:109730 | OMIM:614823 8789275 Tnf tumor necrosis factor gene DOID:178 vascular disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14965870 8789275 Tnf tumor necrosis factor gene DOID:1793 pancreatic cancer ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16211219 8789275 Tnf tumor necrosis factor gene DOID:182 calcinosis ISO RGD:1344192 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30963258 8789275 Tnf tumor necrosis factor gene DOID:1824 status epilepticus ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18455351 8789275 Tnf tumor necrosis factor gene DOID:1824 status epilepticus ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:20649973|REF_RGD_ID:4143383 8789275 Tnf tumor necrosis factor gene DOID:1826 epilepsy ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:brain,plasma PMID:28303499|REF_RGD_ID:13524859 8789275 Tnf tumor necrosis factor gene DOID:1875 impotence treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:24467772|REF_RGD_ID:9495931 8789275 Tnf tumor necrosis factor gene DOID:1909 melanoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10379864|PMID:18388930|PMID:9794839|PMID:9843018 8789275 Tnf tumor necrosis factor gene DOID:1926 Gaucher's disease severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:15919211|REF_RGD_ID:12904037 8789275 Tnf tumor necrosis factor gene DOID:1936 atherosclerosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:15823270|REF_RGD_ID:7401235 8789275 Tnf tumor necrosis factor gene DOID:1936 atherosclerosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 8789275 Tnf tumor necrosis factor gene DOID:1936 atherosclerosis ameliorates ISO RGD:11429 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 8789275 Tnf tumor necrosis factor gene DOID:1936 atherosclerosis treatment ISO RGD:11429 D RGD:9068941 20230930 RGD PMID:29593532|REF_RGD_ID:401827839 8789275 Tnf tumor necrosis factor gene DOID:2018 hyperinsulinism ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8789275 Tnf tumor necrosis factor gene DOID:2030 anxiety disorder ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20194079 8789275 Tnf tumor necrosis factor gene DOID:2043 hepatitis B no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) PMID:27644568|REF_RGD_ID:14975150 8789275 Tnf tumor necrosis factor gene DOID:2043 hepatitis B severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-863C>A, -308A>G (human) PMID:12915457|REF_RGD_ID:14995438 8789275 Tnf tumor necrosis factor gene DOID:2043 hepatitis B treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-857C>T (rs1799724) (human) PMID:27644568|REF_RGD_ID:14975150 8789275 Tnf tumor necrosis factor gene DOID:2048 autoimmune hepatitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 8789275 Tnf tumor necrosis factor gene DOID:224 transient cerebral ischemia ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum,hippocampus: PMID:11412877|REF_RGD_ID:13825263 8789275 Tnf tumor necrosis factor gene DOID:224 transient cerebral ischemia treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24053818|REF_RGD_ID:7364868 8789275 Tnf tumor necrosis factor gene DOID:2280 hidradenitis suppurativa ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:promoter:-238G>A(human) PMID:23106544|REF_RGD_ID:7777155 8789275 Tnf tumor necrosis factor gene DOID:2316 brain ischemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15756928 8789275 Tnf tumor necrosis factor gene DOID:2352 hemochromatosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793930 8789275 Tnf tumor necrosis factor gene DOID:2352 hemochromatosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A (rs361525) (human) PMID:11389006|REF_RGD_ID:12904656 8789275 Tnf tumor necrosis factor gene DOID:2352 hemochromatosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:16793930|REF_RGD_ID:12904050 8789275 Tnf tumor necrosis factor gene DOID:2355 anemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16566752 8789275 Tnf tumor necrosis factor gene DOID:2355 anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 8789275 Tnf tumor necrosis factor gene DOID:2355 anemia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:serum PMID:2324681|REF_RGD_ID:10450888 8789275 Tnf tumor necrosis factor gene DOID:2377 multiple sclerosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:8887999|REF_RGD_ID:12904068 8789275 Tnf tumor necrosis factor gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8964914|REF_RGD_ID:7401237 8789275 Tnf tumor necrosis factor gene DOID:2377 multiple sclerosis no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:9270614|REF_RGD_ID:12904657 8789275 Tnf tumor necrosis factor gene DOID:2394 ovarian cancer disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19825522|REF_RGD_ID:2315115 8789275 Tnf tumor necrosis factor gene DOID:2556 relapsing polychondritis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:ear PMID:17606507|REF_RGD_ID:6483833 8789275 Tnf tumor necrosis factor gene DOID:2671 transitional cell carcinoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3361654 8789275 Tnf tumor necrosis factor gene DOID:2723 dermatitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:3171214|REF_RGD_ID:7394823 8789275 Tnf tumor necrosis factor gene DOID:2741 bilirubin metabolic disorder ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864 8789275 Tnf tumor necrosis factor gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with HIV Infections PMID:7640175|REF_RGD_ID:10450731 8789275 Tnf tumor necrosis factor gene DOID:2841 asthma ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 8789275 Tnf tumor necrosis factor gene DOID:2841 asthma no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:12530118|REF_RGD_ID:4143254 8789275 Tnf tumor necrosis factor gene DOID:2841 asthma susceptibility ISO RGD:1344192 D RGD:7240710 20190502 OMIM 8789275 Tnf tumor necrosis factor gene DOID:289 endometriosis ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 8789275 Tnf tumor necrosis factor gene DOID:289 endometriosis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:21741153|REF_RGD_ID:7247423 8789275 Tnf tumor necrosis factor gene DOID:2917 cryoglobulinemia ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19860001|REF_RGD_ID:10450529 8789275 Tnf tumor necrosis factor gene DOID:2921 glomerulonephritis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440|PMID:9403216 8789275 Tnf tumor necrosis factor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1344192 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:14514395|REF_RGD_ID:30309961 8789275 Tnf tumor necrosis factor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1344192 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 8789275 Tnf tumor necrosis factor gene DOID:2957 pulmonary tuberculosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:9176116|REF_RGD_ID:4142835 8789275 Tnf tumor necrosis factor gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:18212516|REF_RGD_ID:4143395 8789275 Tnf tumor necrosis factor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human) PMID:20650298|REF_RGD_ID:4143388 8789275 Tnf tumor necrosis factor gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:9844059|REF_RGD_ID:6909132 8789275 Tnf tumor necrosis factor gene DOID:299 adenocarcinoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1733439|PMID:19028472 8789275 Tnf tumor necrosis factor gene DOID:3021 acute kidney failure ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16595132|PMID:18460982|PMID:20623750 8789275 Tnf tumor necrosis factor gene DOID:3021 acute kidney failure susceptibility ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:21150875|REF_RGD_ID:7245548 8789275 Tnf tumor necrosis factor gene DOID:3042 allergic contact dermatitis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15849067 8789275 Tnf tumor necrosis factor gene DOID:3070 high grade glioma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22199285 8789275 Tnf tumor necrosis factor gene DOID:3070 high grade glioma treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:11810046|REF_RGD_ID:10450725 8789275 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter PMID:20352242|REF_RGD_ID:4143273 8789275 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism: :c. 489G>A (human) PMID:12537602|REF_RGD_ID:4143421 8789275 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:11179116|REF_RGD_ID:4143424 8789275 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20500811|REF_RGD_ID:4143272 8789275 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:8564092|REF_RGD_ID:4143270 8789275 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1344192 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:15337792|PMID:29497291|PMID:34652871 8789275 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA;polymorphism: :rs361525 (human) PMID:20299531|REF_RGD_ID:4143391 8789275 Tnf tumor necrosis factor gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-308 G>A (human) PMID:15820084|REF_RGD_ID:4145714 8789275 Tnf tumor necrosis factor gene DOID:3213 demyelinating disease treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:7479982|REF_RGD_ID:12904647 8789275 Tnf tumor necrosis factor gene DOID:3310 atopic dermatitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:haplotype:promoter:−308G>A,-238G>A(human) PMID:22533231|REF_RGD_ID:7401246 8789275 Tnf tumor necrosis factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:13678668|REF_RGD_ID:12904653 8789275 Tnf tumor necrosis factor gene DOID:3393 coronary artery disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-863C>A, in men without Diabetes Mellitus, Type 2 (MeSH:D003924) PMID:15059615|REF_RGD_ID:1626412 8789275 Tnf tumor necrosis factor gene DOID:3454 brain infarction ISO RGD:3876 D RGD:9068941 20230216 RGD protein:increased expression:brain (rat) PMID:19895873|REF_RGD_ID:2325193 8789275 Tnf tumor necrosis factor gene DOID:3458 breast adenocarcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD human protein in a rat model PMID:12536235|REF_RGD_ID:14995452 8789275 Tnf tumor necrosis factor gene DOID:3492 mixed connective tissue disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19684145|REF_RGD_ID:8142347 8789275 Tnf tumor necrosis factor gene DOID:3525 middle cerebral artery infarction ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15647744|REF_RGD_ID:13825261 8789275 Tnf tumor necrosis factor gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:11429 D RGD:9068941 20230330 RGD PMID:28630232|REF_RGD_ID:242905192 8789275 Tnf tumor necrosis factor gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:3876 D RGD:9068941 20230330 RGD PMID:35322553|REF_RGD_ID:242905190 8789275 Tnf tumor necrosis factor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24916922|PMID:29498696|REF_RGD_ID:10450594|REF_RGD_ID:13792833 8789275 Tnf tumor necrosis factor gene DOID:3526 cerebral infarction ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16173529|REF_RGD_ID:1580315 8789275 Tnf tumor necrosis factor gene DOID:3526 cerebral infarction treatment ISO RGD:11429 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 8789275 Tnf tumor necrosis factor gene DOID:37 skin disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8789275 Tnf tumor necrosis factor gene DOID:37 skin disease severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning PMID:21357384|REF_RGD_ID:7364846 8789275 Tnf tumor necrosis factor gene DOID:37 skin disease susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning;DNA:SNP:promoter:-308G>A (human) PMID:21357384|REF_RGD_ID:7364846 8789275 Tnf tumor necrosis factor gene DOID:3721 plasmacytoma treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:2022919|REF_RGD_ID:10449448 8789275 Tnf tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:2156165|PMID:7542280|REF_RGD_ID:4142851|REF_RGD_ID:4143417 8789275 Tnf tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11394717|PMID:16324872|PMID:17266442|PMID:25216247|PMID:26368622 8789275 Tnf tumor necrosis factor gene DOID:3770 pulmonary fibrosis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12030733|REF_RGD_ID:4143258 8789275 Tnf tumor necrosis factor gene DOID:3770 pulmonary fibrosis treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 8789275 Tnf tumor necrosis factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:10541330|REF_RGD_ID:12904053 8789275 Tnf tumor necrosis factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19505916|REF_RGD_ID:4142793 8789275 Tnf tumor necrosis factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9669810|REF_RGD_ID:4143264 8789275 Tnf tumor necrosis factor gene DOID:399 tuberculosis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20537163|REF_RGD_ID:4143229 8789275 Tnf tumor necrosis factor gene DOID:4029 gastritis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:25335260|REF_RGD_ID:10413874 8789275 Tnf tumor necrosis factor gene DOID:4079 heart valve disease ISO RGD:11429 D RGD:9068941 20220825 MouseDO 8789275 Tnf tumor necrosis factor gene DOID:409 liver disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15946935 8789275 Tnf tumor necrosis factor gene DOID:409 liver disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Hemochromatosis;DNA:SNP:promoter:-308G>A (human) PMID:11389006|REF_RGD_ID:12904656 8789275 Tnf tumor necrosis factor gene DOID:4247 coronary restenosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16319143 8789275 Tnf tumor necrosis factor gene DOID:4247 coronary restenosis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16319143|REF_RGD_ID:1580322 8789275 Tnf tumor necrosis factor gene DOID:4306 radiculopathy ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, dorsal root ganglion PMID:18848809|REF_RGD_ID:7394750 8789275 Tnf tumor necrosis factor gene DOID:4362 cervical cancer susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-308G>A (human) PMID:19823053|REF_RGD_ID:2315116 8789275 Tnf tumor necrosis factor gene DOID:4398 pustulosis of palm and sole ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:5' utr:multiple PMID:12691703|REF_RGD_ID:8548804 8789275 Tnf tumor necrosis factor gene DOID:4398 pustulosis of palm and sole no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:multiple PMID:11019918|REF_RGD_ID:8548803 8789275 Tnf tumor necrosis factor gene DOID:4450 renal cell carcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:19384924|PMID:19904265|REF_RGD_ID:2315113|REF_RGD_ID:2315119 8789275 Tnf tumor necrosis factor gene DOID:4483 rhinitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15120189|REF_RGD_ID:4143470 8789275 Tnf tumor necrosis factor gene DOID:4483 rhinitis ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20696593|REF_RGD_ID:4145454 8789275 Tnf tumor necrosis factor gene DOID:4692 endophthalmitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:16544114|REF_RGD_ID:7829753 8789275 Tnf tumor necrosis factor gene DOID:4724 brain edema ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21276434 8789275 Tnf tumor necrosis factor gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 8789275 Tnf tumor necrosis factor gene DOID:5082 liver cirrhosis ISO RGD:3876 D RGD:9068941 20240125 RGD associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337 8789275 Tnf tumor necrosis factor gene DOID:5082 liver cirrhosis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19695831|REF_RGD_ID:14995448 8789275 Tnf tumor necrosis factor gene DOID:5199 ureteral obstruction ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:19541932|REF_RGD_ID:7245519 8789275 Tnf tumor necrosis factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1768380|REF_RGD_ID:10449449 8789275 Tnf tumor necrosis factor gene DOID:5327 retinal detachment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:21402953|REF_RGD_ID:5131257 8789275 Tnf tumor necrosis factor gene DOID:5327 retinal detachment treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:21402953|REF_RGD_ID:5131257 8789275 Tnf tumor necrosis factor gene DOID:5419 schizophrenia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16478754 8789275 Tnf tumor necrosis factor gene DOID:5419 schizophrenia ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15927374|REF_RGD_ID:1580313 8789275 Tnf tumor necrosis factor gene DOID:5463 cochlear disease ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:29304389|REF_RGD_ID:13792837 8789275 Tnf tumor necrosis factor gene DOID:552 pneumonia ISO RGD:1344192 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21625544|PMID:28917655|PMID:34390737 8789275 Tnf tumor necrosis factor gene DOID:557 kidney disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 8789275 Tnf tumor necrosis factor gene DOID:5614 eye disease disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Thyroid Diseases;protein:increased expression:serum: PMID:12186498|REF_RGD_ID:7387296 8789275 Tnf tumor necrosis factor gene DOID:5679 retinal disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 8789275 Tnf tumor necrosis factor gene DOID:5773 oral submucous fibrosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 8789275 Tnf tumor necrosis factor gene DOID:5844 myocardial infarction ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883752|PMID:16310260 8789275 Tnf tumor necrosis factor gene DOID:5844 myocardial infarction ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle myocardium, plasma PMID:21362018|REF_RGD_ID:5130892 8789275 Tnf tumor necrosis factor gene DOID:6000 congestive heart failure ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135663|PMID:15231041|PMID:17337591|PMID:18034274|PMID:29959987 8789275 Tnf tumor necrosis factor gene DOID:6000 congestive heart failure ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:28939262|REF_RGD_ID:14975271 8789275 Tnf tumor necrosis factor gene DOID:6000 congestive heart failure severity ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:11100001|REF_RGD_ID:7401241 8789275 Tnf tumor necrosis factor gene DOID:6000 congestive heart failure treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15210453|REF_RGD_ID:1580213 8789275 Tnf tumor necrosis factor gene DOID:6000 congestive heart failure treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Myocardial Infarction; PMID:11668085|REF_RGD_ID:7401242 8789275 Tnf tumor necrosis factor gene DOID:614 lymphopenia ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:serum PMID:2324681|REF_RGD_ID:10450888 8789275 Tnf tumor necrosis factor gene DOID:630 genetic disease ISO RGD:1344192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789275 Tnf tumor necrosis factor gene DOID:633 myositis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:muscle: PMID:10399751|REF_RGD_ID:7401187 8789275 Tnf tumor necrosis factor gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8548330|REF_RGD_ID:12904035 8789275 Tnf tumor necrosis factor gene DOID:6364 migraine ISO RGD:1344192 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to, 1 PMID:25741868 8789275 Tnf tumor necrosis factor gene DOID:6364 migraine susceptibility ISO RGD:1344192 D RGD:7240710 20190410 OMIM 8789275 Tnf tumor necrosis factor gene DOID:640 encephalomyelitis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:9736027|REF_RGD_ID:12904033 8789275 Tnf tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:12391106|REF_RGD_ID:4143422 8789275 Tnf tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2518282 8789275 Tnf tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Pulmonary Edema; protein:increased expression:Bronchoalveolar Lavage Fluid PMID:9628235|REF_RGD_ID:4142833 8789275 Tnf tumor necrosis factor gene DOID:6432 pulmonary hypertension ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with pulmonary disease, chronic obstructive; protein:increased expression:serum PMID:16899829|REF_RGD_ID:4143280 8789275 Tnf tumor necrosis factor gene DOID:6543 acne susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-308 G>A (human) PMID:18615253|REF_RGD_ID:7394817 8789275 Tnf tumor necrosis factor gene DOID:684 hepatocellular carcinoma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 8789275 Tnf tumor necrosis factor gene DOID:684 hepatocellular carcinoma ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:26890368|REF_RGD_ID:14975171 8789275 Tnf tumor necrosis factor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:11429 D RGD:9068941 20210423 RGD mRNA, protein:increased expression:liver, blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 8789275 Tnf tumor necrosis factor gene DOID:699 mitochondrial myopathy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8789275 Tnf tumor necrosis factor gene DOID:7148 rheumatoid arthritis ISO RGD:11429 D RGD:9068941 20220825 MouseDO OMIM:180300 8789275 Tnf tumor necrosis factor gene DOID:7148 rheumatoid arthritis ISO RGD:1344192 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12566094|PMID:2001072|PMID:22450443|PMID:34459104|PMID:8391952 8789275 Tnf tumor necrosis factor gene DOID:7148 rheumatoid arthritis ISO RGD:1344192 D RGD:9068941 20221117 RGD mRNA:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 8789275 Tnf tumor necrosis factor gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A, -308G>A (human) PMID:25311255|REF_RGD_ID:12904065 8789275 Tnf tumor necrosis factor gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:12563673|REF_RGD_ID:10450537 8789275 Tnf tumor necrosis factor gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-857C>T (human) PMID:25311255|REF_RGD_ID:12904065 8789275 Tnf tumor necrosis factor gene DOID:7188 autoimmune thyroiditis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:17046971|REF_RGD_ID:4841878 8789275 Tnf tumor necrosis factor gene DOID:7427 anthrax disease disease_progression ISO RGD:11429 D RGD:9068941 20201211 RGD protein:decreased expression:multiple (mouse) PMID:19075243|REF_RGD_ID:40902812 8789275 Tnf tumor necrosis factor gene DOID:767 muscular atrophy ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24534773 8789275 Tnf tumor necrosis factor gene DOID:769 neuroblastoma ISO RGD:1344192 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 8789275 Tnf tumor necrosis factor gene DOID:780 placenta disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16007645 8789275 Tnf tumor necrosis factor gene DOID:783 end stage renal disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 8789275 Tnf tumor necrosis factor gene DOID:783 end stage renal disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:22266663|REF_RGD_ID:7245510 8789275 Tnf tumor necrosis factor gene DOID:813 septic arthritis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382 8789275 Tnf tumor necrosis factor gene DOID:820 myocarditis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18627770|PMID:25396421 8789275 Tnf tumor necrosis factor gene DOID:824 periodontitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24586097|REF_RGD_ID:10450598 8789275 Tnf tumor necrosis factor gene DOID:8283 peritonitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:26601826|REF_RGD_ID:14975296 8789275 Tnf tumor necrosis factor gene DOID:8283 peritonitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20819637|REF_RGD_ID:4143378 8789275 Tnf tumor necrosis factor gene DOID:841 extrinsic allergic alveolitis ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:10882225|REF_RGD_ID:4142832 8789275 Tnf tumor necrosis factor gene DOID:841 extrinsic allergic alveolitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:15653992|REF_RGD_ID:4143466 8789275 Tnf tumor necrosis factor gene DOID:8463 corneal ulcer ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: PMID:12714388|REF_RGD_ID:7829721 8789275 Tnf tumor necrosis factor gene DOID:8472 localized scleroderma ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9843018 8789275 Tnf tumor necrosis factor gene DOID:8483 retinal artery occlusion ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:19421412|REF_RGD_ID:7829809 8789275 Tnf tumor necrosis factor gene DOID:850 lung disease ISO RGD:11429 D RGD:9068941 20200609 RGD lung injury PMID:12377989|REF_RGD_ID:4142809 8789275 Tnf tumor necrosis factor gene DOID:850 lung disease ISO RGD:11429 D RGD:9068941 20200609 RGD lung injury; mRNA:increased expression:lung PMID:12745880|REF_RGD_ID:4142805 8789275 Tnf tumor necrosis factor gene DOID:850 lung disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11472967 8789275 Tnf tumor necrosis factor gene DOID:850 lung disease ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with premature birth; protein:increased expression:lung PMID:9462189|REF_RGD_ID:4143432 8789275 Tnf tumor necrosis factor gene DOID:850 lung disease ISO RGD:3876 D RGD:9068941 20200609 RGD acute lung injury; mRNA:increased expression:lung PMID:15461830|REF_RGD_ID:4145512 8789275 Tnf tumor necrosis factor gene DOID:850 lung disease ISO RGD:3876 D RGD:9068941 20200609 RGD lung injury associated with pancreatitis; protein:increased expression:Bronchoalveolar Lavage Fluid PMID:10455887|REF_RGD_ID:4143427 8789275 Tnf tumor necrosis factor gene DOID:850 lung disease ISO RGD:3876 D RGD:9068941 20200609 RGD ventilator-induced lung injury; protein:altered expression:lung: PMID:11126266|REF_RGD_ID:4143425 8789275 Tnf tumor necrosis factor gene DOID:8505 dermatitis herpetiformis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:7914110|REF_RGD_ID:8548777 8789275 Tnf tumor necrosis factor gene DOID:8515 Cor pulmonale ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20669672|REF_RGD_ID:4143386 8789275 Tnf tumor necrosis factor gene DOID:8536 herpes zoster ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:21954956|REF_RGD_ID:8663478 8789275 Tnf tumor necrosis factor gene DOID:8577 ulcerative colitis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617644|PMID:20452301|PMID:22119283 8789275 Tnf tumor necrosis factor gene DOID:8577 ulcerative colitis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:28120341|REF_RGD_ID:14975153 8789275 Tnf tumor necrosis factor gene DOID:8577 ulcerative colitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:24812904|REF_RGD_ID:10450593 8789275 Tnf tumor necrosis factor gene DOID:8577 ulcerative colitis treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:25204186|REF_RGD_ID:10450577 8789275 Tnf tumor necrosis factor gene DOID:863 nervous system disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14999072 8789275 Tnf tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:19824106|REF_RGD_ID:4144091 8789275 Tnf tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16269520|REF_RGD_ID:1580205 8789275 Tnf tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19824106|REF_RGD_ID:4144091 8789275 Tnf tumor necrosis factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3876 D RGD:9068941 20211126 RGD mRNA:increased expression:ileum (rat) PMID:20501441|REF_RGD_ID:2324672 8789275 Tnf tumor necrosis factor gene DOID:8725 vascular dementia susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-850C>T(human) PMID:11273064|REF_RGD_ID:13825254 8789275 Tnf tumor necrosis factor gene DOID:874 bacterial pneumonia disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:10650487|REF_RGD_ID:4143476 8789275 Tnf tumor necrosis factor gene DOID:874 bacterial pneumonia severity ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:12958055|REF_RGD_ID:10449451 8789275 Tnf tumor necrosis factor gene DOID:874 bacterial pneumonia treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:9310939|REF_RGD_ID:10450564 8789275 Tnf tumor necrosis factor gene DOID:874 bacterial pneumonia treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Agranulocytosis PMID:7546648|REF_RGD_ID:10755357 8789275 Tnf tumor necrosis factor gene DOID:8778 Crohn's disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10700533|PMID:21829567 8789275 Tnf tumor necrosis factor gene DOID:8778 Crohn's disease ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:intestine mucosa PMID:21359923|REF_RGD_ID:5130893 8789275 Tnf tumor necrosis factor gene DOID:8778 Crohn's disease treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:22531889|REF_RGD_ID:8661753 8789275 Tnf tumor necrosis factor gene DOID:8893 psoriasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844318|PMID:7744320 8789275 Tnf tumor necrosis factor gene DOID:8893 psoriasis ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16821276|REF_RGD_ID:7401180 8789275 Tnf tumor necrosis factor gene DOID:8893 psoriasis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-238G>A(rs361525)(human) PMID:9326391|REF_RGD_ID:7394813 8789275 Tnf tumor necrosis factor gene DOID:893 Wilson disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25002079 8789275 Tnf tumor necrosis factor gene DOID:8947 diabetic retinopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22105495|REF_RGD_ID:7364856 8789275 Tnf tumor necrosis factor gene DOID:8947 diabetic retinopathy ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum, vitreous humour PMID:16284605|REF_RGD_ID:7401212 8789275 Tnf tumor necrosis factor gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:platelet: PMID:10540181|REF_RGD_ID:7394805 8789275 Tnf tumor necrosis factor gene DOID:8947 diabetic retinopathy no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:-302A>G (human) PMID:16979413|REF_RGD_ID:8548772 8789275 Tnf tumor necrosis factor gene DOID:90 degenerative disc disease ISO RGD:1344192 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34600870 8789275 Tnf tumor necrosis factor gene DOID:900 hepatopulmonary syndrome treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:26236934|REF_RGD_ID:14696802 8789275 Tnf tumor necrosis factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:20633123|REF_RGD_ID:5131936 8789275 Tnf tumor necrosis factor gene DOID:9000099 Experimental Colitis treatment ISO RGD:3876 D RGD:9068941 20220623 RGD PMID:21296062|PMID:29572553|REF_RGD_ID:152995414|REF_RGD_ID:8661763 8789275 Tnf tumor necrosis factor gene DOID:9000113 Pneumococcal Meningitis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25443778|REF_RGD_ID:9831197 8789275 Tnf tumor necrosis factor gene DOID:9000113 Pneumococcal Meningitis disease_progression ISO RGD:3876 D RGD:9068941 20210219 RGD mRNA:increased expression:brain (rat) PMID:31933824|REF_RGD_ID:40903068 8789275 Tnf tumor necrosis factor gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:11429 D RGD:9068941 20230831 RGD PMID:28062499|REF_RGD_ID:329955458 8789275 Tnf tumor necrosis factor gene DOID:9000197 Edema ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 8789275 Tnf tumor necrosis factor gene DOID:9000217 Stomach Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15201584|PMID:1733439 8789275 Tnf tumor necrosis factor gene DOID:9000220 Coxsackievirus Infections ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25396421 8789275 Tnf tumor necrosis factor gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:3876 D RGD:9068941 20240125 RGD mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337 8789275 Tnf tumor necrosis factor gene DOID:9000300 Refractory Anemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10870480 8789275 Tnf tumor necrosis factor gene DOID:9000304 Manganese Poisoning ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18041089 8789275 Tnf tumor necrosis factor gene DOID:9000310 Lung Injury ISO RGD:1344192 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2518282|PMID:26243812|PMID:34255241 8789275 Tnf tumor necrosis factor gene DOID:9000352 Vascular System Injuries ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19234301 8789275 Tnf tumor necrosis factor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 8789275 Tnf tumor necrosis factor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19719951|REF_RGD_ID:4144093 8789275 Tnf tumor necrosis factor gene DOID:9000540 HIV Wasting Syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8789275 Tnf tumor necrosis factor gene DOID:9000641 Pain ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18582539|PMID:20383154 8789275 Tnf tumor necrosis factor gene DOID:9000656 Penetrating Wounds ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26101070|REF_RGD_ID:11049529 8789275 Tnf tumor necrosis factor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphism:promoter: c. -308A>G (human) PMID:17196641|REF_RGD_ID:4144784 8789275 Tnf tumor necrosis factor gene DOID:9000784 Fibrosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18034274 8789275 Tnf tumor necrosis factor gene DOID:9000855 Experimental Radiation Injuries ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 8789275 Tnf tumor necrosis factor gene DOID:9000918 Disease Progression ISO RGD:1344192 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 8789275 Tnf tumor necrosis factor gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26270535|REF_RGD_ID:11049527 8789275 Tnf tumor necrosis factor gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:3876 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8789275 Tnf tumor necrosis factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23431386|PMID:8032535 8789275 Tnf tumor necrosis factor gene DOID:9000972 Fever ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864|PMID:11852909|PMID:15384034 8789275 Tnf tumor necrosis factor gene DOID:9000998 Brain Injuries ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19800810|PMID:21549006 8789275 Tnf tumor necrosis factor gene DOID:9000998 Brain Injuries ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:10674461|REF_RGD_ID:13825262 8789275 Tnf tumor necrosis factor gene DOID:9001109 Anorexia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25392278 8789275 Tnf tumor necrosis factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:19543754|REF_RGD_ID:7394752 8789275 Tnf tumor necrosis factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:nucleus accumbens PMID:24845379|REF_RGD_ID:10450588 8789275 Tnf tumor necrosis factor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:7556590|REF_RGD_ID:14995472 8789275 Tnf tumor necrosis factor gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15670576|PMID:9397994|REF_RGD_ID:14398736|REF_RGD_ID:14995456 8789275 Tnf tumor necrosis factor gene DOID:9001365 Amebic Liver Abscess treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:10862314|REF_RGD_ID:14928216 8789275 Tnf tumor necrosis factor gene DOID:9001472 Nasal Polyps ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNPs:promoter: PMID:17638785|REF_RGD_ID:4142855 8789275 Tnf tumor necrosis factor gene DOID:9001488 Human Influenza ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 8789275 Tnf tumor necrosis factor gene DOID:9001542 Albuminuria ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17167242 8789275 Tnf tumor necrosis factor gene DOID:9001553 Spinal Cord Compression ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135227 8789275 Tnf tumor necrosis factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:11429 D RGD:9068941 20201023 RGD mRNA:increased expression:liver (mouse) PMID:28465467|REF_RGD_ID:39939037 8789275 Tnf tumor necrosis factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16085334 8789275 Tnf tumor necrosis factor gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24383550|REF_RGD_ID:10450610 8789275 Tnf tumor necrosis factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570423 8789275 Tnf tumor necrosis factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 8789275 Tnf tumor necrosis factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 8789275 Tnf tumor necrosis factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 8789275 Tnf tumor necrosis factor gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:11429 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 8789275 Tnf tumor necrosis factor gene DOID:9001586 Experimental Liver Neoplasms treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD Morris hepatoma PMID:9063767|REF_RGD_ID:14696818 8789275 Tnf tumor necrosis factor gene DOID:9001600 Wounds and Injuries ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 8789275 Tnf tumor necrosis factor gene DOID:9001650 Pregnancy-Induced Hypertension treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:18981324|REF_RGD_ID:13825265 8789275 Tnf tumor necrosis factor gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 8789275 Tnf tumor necrosis factor gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1344192 D RGD:9068941 20220922 RGD protein:increased expression:blood serum (human) PMID:32178736|REF_RGD_ID:155230830 8789275 Tnf tumor necrosis factor gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:3876 D RGD:9068941 20220922 RGD PMID:32178736|REF_RGD_ID:155230830 8789275 Tnf tumor necrosis factor gene DOID:9001708 Hemorrhagic Shock ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 8789275 Tnf tumor necrosis factor gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24315526|REF_RGD_ID:10450602 8789275 Tnf tumor necrosis factor gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:18660426|REF_RGD_ID:7387281 8789275 Tnf tumor necrosis factor gene DOID:9001733 Tinnitus ISO RGD:3876 D RGD:9068941 20231230 RGD mRNA, protein:increased expression:Cochlear Nucleus PMID:24092407|REF_RGD_ID:401940125 8789275 Tnf tumor necrosis factor gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:9032201|REF_RGD_ID:4143479 8789275 Tnf tumor necrosis factor gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:11429 D RGD:9068941 20200609 RGD associated with influenza;protein:increased expression:lung PMID:17348295|REF_RGD_ID:4145366 8789275 Tnf tumor necrosis factor gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24598936|REF_RGD_ID:10450586 8789275 Tnf tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:10454827|PMID:17164725|REF_RGD_ID:14696803|REF_RGD_ID:14985258 8789275 Tnf tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:11429 D RGD:9068941 20220930 RGD PMID:32155285|REF_RGD_ID:155260323 8789275 Tnf tumor necrosis factor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3876 D RGD:9068941 20200820 RGD PMID:11129814|PMID:11592783|PMID:15457564|PMID:19357028|PMID:21125813|PMID:24726586|REF_RGD_ID:10450597|REF_RGD_ID:14985257|REF_RGD_ID:14995447|REF_RGD_ID:14995473|REF_RGD_ID:15039406|REF_RGD_ID:2325259 8789275 Tnf tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16141456|REF_RGD_ID:1580311 8789275 Tnf tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16336586|REF_RGD_ID:1580208 8789275 Tnf tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12969138|REF_RGD_ID:1580296 8789275 Tnf tumor necrosis factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:urine PMID:21441310|REF_RGD_ID:5135032 8789275 Tnf tumor necrosis factor gene DOID:9002170 Experimental Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12627504|PMID:1674182|PMID:3361654 8789275 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10825476|PMID:18790011|REF_RGD_ID:7394737|REF_RGD_ID:7394741 8789275 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:11429 D RGD:9068941 20200609 RGD associated with Diabetic Neuropathies; PMID:21104419|REF_RGD_ID:7401179 8789275 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:18790011|REF_RGD_ID:7394737 8789275 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:12727271|PMID:16472913|PMID:17320857|PMID:18463260|PMID:18582539|PMID:20383154|PMID:26141506|PMID:27093858|PMID:7582491|PMID:7881729 8789275 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16675114|PMID:17304130|PMID:17459378|REF_RGD_ID:7387300|REF_RGD_ID:7387302|REF_RGD_ID:7394757 8789275 Tnf tumor necrosis factor gene DOID:9002211 Hyperalgesia ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:lumbar vertebra: PMID:16675114|REF_RGD_ID:7387300 8789275 Tnf tumor necrosis factor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:22945689|REF_RGD_ID:11041895 8789275 Tnf tumor necrosis factor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, blood, lymphocyte PMID:12010662|REF_RGD_ID:10449463 8789275 Tnf tumor necrosis factor gene DOID:9002371 Cardiotoxicity ISO RGD:1344192 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:29959987|PMID:32068018 8789275 Tnf tumor necrosis factor gene DOID:9002395 Hypothermia ISO RGD:1344192 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16369138|PMID:34942311 8789275 Tnf tumor necrosis factor gene DOID:9002457 Experimental Arthritis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19203382|PMID:19330884|PMID:19765281|PMID:20131233|PMID:20974942|PMID:21452922|PMID:22450443|PMID:7589090|PMID:9598899 8789275 Tnf tumor necrosis factor gene DOID:9002457 Experimental Arthritis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24394943|REF_RGD_ID:10450611 8789275 Tnf tumor necrosis factor gene DOID:9002457 Experimental Arthritis ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19169271|REF_RGD_ID:8662976 8789275 Tnf tumor necrosis factor gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:21690068|PMID:23052485|PMID:23140046|PMID:24028507|PMID:29408684|REF_RGD_ID:10755447|REF_RGD_ID:13792834|REF_RGD_ID:7193038|REF_RGD_ID:7245941|REF_RGD_ID:8661761 8789275 Tnf tumor necrosis factor gene DOID:9002549 Shock treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:2040364|PMID:7537468|REF_RGD_ID:10450572|REF_RGD_ID:10450732 8789275 Tnf tumor necrosis factor gene DOID:9002554 Tachycardia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864 8789275 Tnf tumor necrosis factor gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:3876 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 8789275 Tnf tumor necrosis factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:11421579|REF_RGD_ID:12904661 8789275 Tnf tumor necrosis factor gene DOID:9002884 Emphysema ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:15805183|REF_RGD_ID:4143415 8789275 Tnf tumor necrosis factor gene DOID:9002906 Multiple Organ Failure ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10890648|PMID:9696492 8789275 Tnf tumor necrosis factor gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:15681845|PMID:19342600|REF_RGD_ID:7394795|REF_RGD_ID:7394799 8789275 Tnf tumor necrosis factor gene DOID:9002909 Oxygen-Induced Retinopathy ameliorates ISO RGD:11429 D RGD:9068941 20230525 RGD PMID:35445044|REF_RGD_ID:329812014 8789275 Tnf tumor necrosis factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea: PMID:19051071|REF_RGD_ID:7394705 8789275 Tnf tumor necrosis factor gene DOID:9002928 Colonic Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12842827|PMID:19028472 8789275 Tnf tumor necrosis factor gene DOID:9002953 Escherichia Coli Infections ISO RGD:3876 D RGD:9068941 20200820 RGD protein:increased expression:serum (rat) PMID:9466473|REF_RGD_ID:38508904 8789275 Tnf tumor necrosis factor gene DOID:9002955 Nerve Degeneration ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15153526|PMID:22921461|PMID:9710261 8789275 Tnf tumor necrosis factor gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16322490|REF_RGD_ID:1580310 8789275 Tnf tumor necrosis factor gene DOID:9003291 Aggressive Fibromatosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19944662 8789275 Tnf tumor necrosis factor gene DOID:9003470 Picornaviridae Infections ISO RGD:11429 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;mRNA,protein:increased expression:lung PMID:19748999|REF_RGD_ID:4145626 8789275 Tnf tumor necrosis factor gene DOID:9003505 Venous Thromboembolism ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22473048 8789275 Tnf tumor necrosis factor gene DOID:9003507 Premature Birth ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27748297 8789275 Tnf tumor necrosis factor gene DOID:9003817 Sudden Hearing Loss ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:11189185|REF_RGD_ID:7394753 8789275 Tnf tumor necrosis factor gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19690440|REF_RGD_ID:7245518 8789275 Tnf tumor necrosis factor gene DOID:9003936 Cardiomegaly ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302781|PMID:17337591|PMID:18034274 8789275 Tnf tumor necrosis factor gene DOID:9004009 Reperfusion Injury ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10706834|PMID:12024109|PMID:15829914|PMID:16971220|PMID:17112405|PMID:18460982|PMID:19058328|PMID:23743330|PMID:23875703|PMID:24898700 8789275 Tnf tumor necrosis factor gene DOID:9004017 Chronic Hepatitis C ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9047083|REF_RGD_ID:14995307 8789275 Tnf tumor necrosis factor gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9440625|REF_RGD_ID:14995439 8789275 Tnf tumor necrosis factor gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1344192 D RGD:9068941 20200813 RGD PMID:25708446|REF_RGD_ID:38456002 8789275 Tnf tumor necrosis factor gene DOID:9004283 Transplant Rejection ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:8094579|REF_RGD_ID:7401188 8789275 Tnf tumor necrosis factor gene DOID:9004283 Transplant Rejection ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:heart,serum: PMID:2038191|REF_RGD_ID:7394793 8789275 Tnf tumor necrosis factor gene DOID:9004283 Transplant Rejection treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:2338821|REF_RGD_ID:8548836 8789275 Tnf tumor necrosis factor gene DOID:9004484 Sepsis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15489642|PMID:8741040|PMID:9806674 8789275 Tnf tumor necrosis factor gene DOID:9004484 Sepsis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15665729|REF_RGD_ID:5147745 8789275 Tnf tumor necrosis factor gene DOID:9004484 Sepsis ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19695174|REF_RGD_ID:4144094 8789275 Tnf tumor necrosis factor gene DOID:9004484 Sepsis treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:27488951|REF_RGD_ID:14975262 8789275 Tnf tumor necrosis factor gene DOID:9004484 Sepsis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24055021|REF_RGD_ID:7364867 8789275 Tnf tumor necrosis factor gene DOID:9004501 Meningeal Tuberculosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10318940|REF_RGD_ID:10449456 8789275 Tnf tumor necrosis factor gene DOID:9004531 Cardiovirus Infections ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10609881 8789275 Tnf tumor necrosis factor gene DOID:9004538 Hearing Loss ISO RGD:11429 D RGD:9068941 20200609 RGD associated with Cytomegalovirus Infections;protein:increased expression:scala tympani: PMID:22001951|REF_RGD_ID:7394702 8789275 Tnf tumor necrosis factor gene DOID:9004547 Thyroid Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 8789275 Tnf tumor necrosis factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22199285|PMID:23431386|PMID:23899529|PMID:24613819 8789275 Tnf tumor necrosis factor gene DOID:9004590 Acute Liver Failure ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19505222 8789275 Tnf tumor necrosis factor gene DOID:9004590 Acute Liver Failure ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18070011|REF_RGD_ID:4144156 8789275 Tnf tumor necrosis factor gene DOID:9004590 Acute Liver Failure severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10979906|REF_RGD_ID:14995442 8789275 Tnf tumor necrosis factor gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:18946736|REF_RGD_ID:14700674 8789275 Tnf tumor necrosis factor gene DOID:9004590 Acute Liver Failure treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:12960499|REF_RGD_ID:10450538 8789275 Tnf tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) PMID:30412745|REF_RGD_ID:14975158 8789275 Tnf tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:1344192 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34390737 8789275 Tnf tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21767135|REF_RGD_ID:6480432 8789275 Tnf tumor necrosis factor gene DOID:9004610 Acute Lung Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19106808|REF_RGD_ID:5147925 8789275 Tnf tumor necrosis factor gene DOID:9004610 Acute Lung Injury no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs1799964 (human) PMID:30412745|REF_RGD_ID:14975158 8789275 Tnf tumor necrosis factor gene DOID:9004610 Acute Lung Injury treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Liver Reperfusion Injury PMID:11129814|REF_RGD_ID:14995473 8789275 Tnf tumor necrosis factor gene DOID:9004649 Heat Stroke ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16878031|PMID:24039931 8789275 Tnf tumor necrosis factor gene DOID:9004657 Weight Gain ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20521320 8789275 Tnf tumor necrosis factor gene DOID:9004751 Nausea ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864 8789275 Tnf tumor necrosis factor gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9032749 8789275 Tnf tumor necrosis factor gene DOID:9004932 Eales Disease ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:19585364|REF_RGD_ID:7401211 8789275 Tnf tumor necrosis factor gene DOID:9004932 Eales Disease ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter PMID:20720222|REF_RGD_ID:7364860 8789275 Tnf tumor necrosis factor gene DOID:9004932 Eales Disease ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:vitreous fluid: PMID:21394064|REF_RGD_ID:7387275 8789275 Tnf tumor necrosis factor gene DOID:9004932 Eales Disease disease_progression ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21849807|REF_RGD_ID:7394772 8789275 Tnf tumor necrosis factor gene DOID:9004932 Eales Disease severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21139707|REF_RGD_ID:7387277 8789275 Tnf tumor necrosis factor gene DOID:9004974 Painful Neuropathy ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10825476|PMID:18394803|REF_RGD_ID:7394739|REF_RGD_ID:7394741 8789275 Tnf tumor necrosis factor gene DOID:9004974 Painful Neuropathy ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:Schwann cell PMID:11376190|REF_RGD_ID:7394735 8789275 Tnf tumor necrosis factor gene DOID:9004974 Painful Neuropathy ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:9514564|REF_RGD_ID:7394740 8789275 Tnf tumor necrosis factor gene DOID:9005172 Lung Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14587096|PMID:22369883 8789275 Tnf tumor necrosis factor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:19755514|REF_RGD_ID:7401185 8789275 Tnf tumor necrosis factor gene DOID:9005236 Drug Eruptions ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 8789275 Tnf tumor necrosis factor gene DOID:9005254 Systemic Candidiasis ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen, plasma PMID:11562071|REF_RGD_ID:10449457 8789275 Tnf tumor necrosis factor gene DOID:9005269 Stable Angina ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 8789275 Tnf tumor necrosis factor gene DOID:9005372 Inflammation ISO RGD:1344192 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:12843254|PMID:14970111|PMID:16001271|PMID:16227999|PMID:19324842|PMID:19803787|PMID:20167660|PMID:20943792|PMID:21146893|PMID:21467745|PMID:22452660|PMID:23348408|PMID:23371441|PMID:23795810|PMID:34942311 8789275 Tnf tumor necrosis factor gene DOID:9005372 Inflammation treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:25706245|PMID:26069367|REF_RGD_ID:11059519|REF_RGD_ID:11059520 8789275 Tnf tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12123627|PMID:12193562|PMID:19478208|PMID:20388520|PMID:22138235|PMID:24513509 8789275 Tnf tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:20555424|REF_RGD_ID:4142788 8789275 Tnf tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21481476|REF_RGD_ID:5131250 8789275 Tnf tumor necrosis factor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:19220660|PMID:24374093|REF_RGD_ID:10450575|REF_RGD_ID:2312478 8789275 Tnf tumor necrosis factor gene DOID:9005724 Fungal Lung Diseases ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16544260|REF_RGD_ID:4145506 8789275 Tnf tumor necrosis factor gene DOID:9005749 Necrosis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631206|PMID:10909967|PMID:22345571|PMID:24548419 8789275 Tnf tumor necrosis factor gene DOID:9005873 Tongue Neoplasms ISO RGD:11429 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tongue: PMID:14747060|REF_RGD_ID:7401243 8789275 Tnf tumor necrosis factor gene DOID:9005873 Tongue Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:saliva PMID:21397550|REF_RGD_ID:7401244 8789275 Tnf tumor necrosis factor gene DOID:9005882 Spine Osteoarthritis ISO RGD:1344192 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 8789275 Tnf tumor necrosis factor gene DOID:9005883 Pleural Effusion ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2518282 8789275 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:20519137|PMID:21396682|REF_RGD_ID:5147765|REF_RGD_ID:5147779 8789275 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17324147|REF_RGD_ID:4891465 8789275 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:8283134|REF_RGD_ID:14995443 8789275 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia treatment ISO RGD:11429 D RGD:9068941 20210312 RGD XCO:0000822 JTE-607 PMID:10493164|REF_RGD_ID:40903016 8789275 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:12813371|PMID:18078960|REF_RGD_ID:14995427|REF_RGD_ID:15023464 8789275 Tnf tumor necrosis factor gene DOID:9005930 Endotoxemia treatment ISO RGD:3876 D RGD:9068941 20200820 RGD associated with liver cirrhosis PMID:15242491|REF_RGD_ID:38501090 8789275 Tnf tumor necrosis factor gene DOID:9005941 Rhinosinusitis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:20147558|REF_RGD_ID:7401236 8789275 Tnf tumor necrosis factor gene DOID:9005941 Rhinosinusitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11197112|REF_RGD_ID:7401169 8789275 Tnf tumor necrosis factor gene DOID:9005968 Neuralgia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20846523 8789275 Tnf tumor necrosis factor gene DOID:9006024 Hypotension ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10379864|PMID:15384034 8789275 Tnf tumor necrosis factor gene DOID:9006081 Osteolysis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878362 8789275 Tnf tumor necrosis factor gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24826482|REF_RGD_ID:10450584 8789275 Tnf tumor necrosis factor gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:3876 D RGD:9068941 20230803 RGD associated with Pulmonary Arterial Hypertension PMID:26959484|REF_RGD_ID:329969898 8789275 Tnf tumor necrosis factor gene DOID:9006205 Animal Disease Models ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8789275 Tnf tumor necrosis factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19925291|REF_RGD_ID:2315112 8789275 Tnf tumor necrosis factor gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:11429 D RGD:9068941 20230601 RGD PMID:24920753|REF_RGD_ID:329845564 8789275 Tnf tumor necrosis factor gene DOID:9006262 Cytomegalovirus Infections ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:7815559|REF_RGD_ID:12904072 8789275 Tnf tumor necrosis factor gene DOID:9006281 Temporomandibular Joint Disorders severity ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with connective tissue diseases; PMID:10800908|REF_RGD_ID:7401181 8789275 Tnf tumor necrosis factor gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:3876 D RGD:9068941 20240208 RGD protein:increased expression:hippocampus (rat) PMID:33390808|REF_RGD_ID:401965467 8789275 Tnf tumor necrosis factor gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:3876 D RGD:9068941 20240118 RGD PMID:29571823|REF_RGD_ID:401959211 8789275 Tnf tumor necrosis factor gene DOID:9006388 Vulvar Vestibulitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:vagina PMID:9015038|REF_RGD_ID:7394738 8789275 Tnf tumor necrosis factor gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:24441717|REF_RGD_ID:10450604 8789275 Tnf tumor necrosis factor gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:18400050|REF_RGD_ID:7401218 8789275 Tnf tumor necrosis factor gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1344192 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:33961948 8789275 Tnf tumor necrosis factor gene DOID:9006709 Primary Graft Dysfunction treatment ISO RGD:3876 D RGD:9068941 20200609 RGD liver PMID:18972563|REF_RGD_ID:15023490 8789275 Tnf tumor necrosis factor gene DOID:9006741 Acute Hepatitis disease_progression ISO RGD:11429 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (mouse) PMID:26569409|REF_RGD_ID:11344640 8789275 Tnf tumor necrosis factor gene DOID:9006741 Acute Hepatitis treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15476865|REF_RGD_ID:14688052 8789275 Tnf tumor necrosis factor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344192 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 8789275 Tnf tumor necrosis factor gene DOID:9006827 Lung Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:17294835|REF_RGD_ID:4143397 8789275 Tnf tumor necrosis factor gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:11429 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 8789275 Tnf tumor necrosis factor gene DOID:9006844 Streptococcal Infections IEP D RGD:11554174|PMID:8302123 20161020 RGD associated with Otitis Media 8789275 Tnf tumor necrosis factor gene DOID:9006928 Viral Bronchiolitis ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:nasal lavage fluid PMID:20088864|REF_RGD_ID:4143440 8789275 Tnf tumor necrosis factor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :rs1799724(human) PMID:17703412|REF_RGD_ID:4889847 8789275 Tnf tumor necrosis factor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: c. -308A>G (human) PMID:19849941|REF_RGD_ID:4143441 8789275 Tnf tumor necrosis factor gene DOID:9006944 Alcoholic Fatty Liver susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A (human) PMID:9214463|REF_RGD_ID:14995434 8789275 Tnf tumor necrosis factor gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:3876 D RGD:9068941 20200820 RGD PMID:20143470|REF_RGD_ID:38508901 8789275 Tnf tumor necrosis factor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909696 8789275 Tnf tumor necrosis factor gene DOID:9007039 Ventricular Dysfunction ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 8789275 Tnf tumor necrosis factor gene DOID:9007073 Cough ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:10325899|REF_RGD_ID:4143478 8789275 Tnf tumor necrosis factor gene DOID:9007096 Stroke ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10950380 8789275 Tnf tumor necrosis factor gene DOID:9007096 Stroke ISO RGD:3876 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21171972|REF_RGD_ID:4891154 8789275 Tnf tumor necrosis factor gene DOID:9007096 Stroke susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:promoter:-308G>A(rs1800629)(human) PMID:14615367|REF_RGD_ID:11529997 8789275 Tnf tumor necrosis factor gene DOID:9007102 Myocardial Ischemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533|PMID:16775501 8789275 Tnf tumor necrosis factor gene DOID:9007153 Pediatric Crohn's Disease ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:11321389|REF_RGD_ID:7394742 8789275 Tnf tumor necrosis factor gene DOID:9007188 Liver Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24183702 8789275 Tnf tumor necrosis factor gene DOID:9007346 Cachexia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 8789275 Tnf tumor necrosis factor gene DOID:9007346 Cachexia ISO RGD:3876 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;mRNA:altered expression:skeletal muscle tissue, adipose tissue (rat) PMID:16077938|REF_RGD_ID:1624190 8789275 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344192 D RGD:9068941 20240111 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17709330|PMID:19638433|PMID:20623750|PMID:21984482|PMID:37866487|PMID:7532385|PMID:9696492 8789275 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:11124822|PMID:17070847|REF_RGD_ID:14696804|REF_RGD_ID:14995429 8789275 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10801288|REF_RGD_ID:14995437 8789275 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:10801287|PMID:29091898|PMID:31077717|REF_RGD_ID:14975281|REF_RGD_ID:14995435|REF_RGD_ID:15090820 8789275 Tnf tumor necrosis factor gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:14686721|PMID:15830285|PMID:29091898|PMID:31342809|PMID:9309314|REF_RGD_ID:10450531|REF_RGD_ID:14995432|REF_RGD_ID:14995485|REF_RGD_ID:15036799|REF_RGD_ID:15090820 8789275 Tnf tumor necrosis factor gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:11429 D RGD:9068941 20200702 RGD PMID:27175332|PMID:8168971|REF_RGD_ID:10450561|REF_RGD_ID:32733623 8789275 Tnf tumor necrosis factor gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Agranulocytosis PMID:7923933|REF_RGD_ID:10450534 8789275 Tnf tumor necrosis factor gene DOID:9007429 Soft Tissue Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16767912|PMID:17203757 8789275 Tnf tumor necrosis factor gene DOID:9007480 Hyperoxia ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:8679214|REF_RGD_ID:10449454 8789275 Tnf tumor necrosis factor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:15164724|REF_RGD_ID:1580295 8789275 Tnf tumor necrosis factor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Anemia, Hemolytic PMID:12845374|REF_RGD_ID:10449461 8789275 Tnf tumor necrosis factor gene DOID:9007588 Heart Injuries ameliorates ISO RGD:11429 D RGD:9068941 20230330 RGD associated with obesity PMID:32084395|REF_RGD_ID:242905211 8789275 Tnf tumor necrosis factor gene DOID:9007692 Insulin Resistance ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16493877|PMID:20943792 8789275 Tnf tumor necrosis factor gene DOID:9007692 Insulin Resistance ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:16202847|REF_RGD_ID:1580312 8789275 Tnf tumor necrosis factor gene DOID:9007692 Insulin Resistance ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:14764603|REF_RGD_ID:1580214 8789275 Tnf tumor necrosis factor gene DOID:9007692 Insulin Resistance treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with Obesity PMID:25016878|REF_RGD_ID:10450578 8789275 Tnf tumor necrosis factor gene DOID:9007692 Insulin Resistance treatment ISO RGD:3876 D RGD:9068941 20200609 RGD associated with obesity PMID:9832430|REF_RGD_ID:14995428 8789275 Tnf tumor necrosis factor gene DOID:9007730 Burns ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 8789275 Tnf tumor necrosis factor gene DOID:9007730 Burns treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:26152211|REF_RGD_ID:11049530 8789275 Tnf tumor necrosis factor gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:3876 D RGD:9068941 20230824 RGD PMID:22079846|REF_RGD_ID:401794136 8789275 Tnf tumor necrosis factor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3876 D RGD:9068941 20200609 RGD protein:increased expression:serum, heart: PMID:24157164|REF_RGD_ID:7387274 8789275 Tnf tumor necrosis factor gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3876 D RGD:9068941 20220929 RGD PMID:31583047|REF_RGD_ID:155230831 8789275 Tnf tumor necrosis factor gene DOID:9007964 Arsenic Poisoning ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8789275 Tnf tumor necrosis factor gene DOID:9008 psoriatic arthritis ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 8789275 Tnf tumor necrosis factor gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP: :-238G>A(rs361525)(human) PMID:9326391|REF_RGD_ID:7394813 8789275 Tnf tumor necrosis factor gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1344192 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:36108500 8789275 Tnf tumor necrosis factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23431386 8789275 Tnf tumor necrosis factor gene DOID:9008455 High-Frequency Hearing Loss ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:23996384|REF_RGD_ID:7394699 8789275 Tnf tumor necrosis factor gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human) PMID:20811626|REF_RGD_ID:5131286 8789275 Tnf tumor necrosis factor gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 8789275 Tnf tumor necrosis factor gene DOID:9008680 Respiratory Tract Infections ISO RGD:1344192 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome; protein:increased expression:serum PMID:14633438|REF_RGD_ID:4145665 8789275 Tnf tumor necrosis factor gene DOID:9008821 Otitis Media with Effusion ISO RGD:11429 D RGD:9068941 20200609 RGD protein:increased expression:middle ear effusion: PMID:18568516|REF_RGD_ID:7394746 8789275 Tnf tumor necrosis factor gene DOID:9008939 Breast Neoplasms ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992|PMID:19446661 8789275 Tnf tumor necrosis factor gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10541330 8789275 Tnf tumor necrosis factor gene DOID:9065 leishmaniasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16540374 8789275 Tnf tumor necrosis factor gene DOID:9074 systemic lupus erythematosus ISO RGD:1344192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:10450718|PMID:11261930|PMID:11506397|PMID:11826025|PMID:11896460|PMID:12485196|PMID:12746914|PMID:12759288|PMID:14681301|PMID:14718719|PMID:16418737|PMID:16720636|PMID:16865291|PMID:16909270|PMID:18050183|PMID:18713756|PMID:19365401|PMID:22760475|PMID:22992668|PMID:8056188|PMID:9818939 8789275 Tnf tumor necrosis factor gene DOID:9111 cutaneous leishmaniasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 8789275 Tnf tumor necrosis factor gene DOID:9111 cutaneous leishmaniasis no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (rs1800629) (human) PMID:16950634|REF_RGD_ID:8548800 8789275 Tnf tumor necrosis factor gene DOID:9120 amyloidosis ISO RGD:1344192 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 8789275 Tnf tumor necrosis factor gene DOID:9146 visceral leishmaniasis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:15579454|REF_RGD_ID:8548789 8789275 Tnf tumor necrosis factor gene DOID:9146 visceral leishmaniasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1901333|PMID:22461696 8789275 Tnf tumor necrosis factor gene DOID:9146 visceral leishmaniasis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:12438370|REF_RGD_ID:8548784 8789275 Tnf tumor necrosis factor gene DOID:9155 mucocutaneous leishmaniasis ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:7595196|REF_RGD_ID:8548799 8789275 Tnf tumor necrosis factor gene DOID:9279 hyperhomocysteinemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12615666 8789275 Tnf tumor necrosis factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24513509 8789275 Tnf tumor necrosis factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 8789275 Tnf tumor necrosis factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:20559450|REF_RGD_ID:5130987 8789275 Tnf tumor necrosis factor gene DOID:9402 epididymitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:29311626|REF_RGD_ID:13792835 8789275 Tnf tumor necrosis factor gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:3876 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8789275 Tnf tumor necrosis factor gene DOID:9452 steatotic liver disease ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23348005 8789275 Tnf tumor necrosis factor gene DOID:9538 multiple myeloma no_association ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-308G>A (human) PMID:12815949|REF_RGD_ID:10449453 8789275 Tnf tumor necrosis factor gene DOID:9538 multiple myeloma treatment ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-238G>A (human) PMID:12200397|REF_RGD_ID:10449450 8789275 Tnf tumor necrosis factor gene DOID:9563 bronchiectasis ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17931847 8789275 Tnf tumor necrosis factor gene DOID:9563 bronchiectasis severity ISO RGD:1344192 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18221721|REF_RGD_ID:12904660 8789275 Tnf tumor necrosis factor gene DOID:9588 encephalitis ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 8789275 Tnf tumor necrosis factor gene DOID:9675 pulmonary emphysema ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 8789275 Tnf tumor necrosis factor gene DOID:9743 diabetic neuropathy treatment ISO RGD:3876 D RGD:9068941 20200609 RGD PMID:23280817|REF_RGD_ID:7401217 8789275 Tnf tumor necrosis factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23640034 8789275 Tnf tumor necrosis factor gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1344192 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:19120272|REF_RGD_ID:2313253 8789275 Tnf tumor necrosis factor gene DOID:9767 myocardial stunning ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11927517 8789275 Tnf tumor necrosis factor gene DOID:9784 trichinosis ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:19564380|REF_RGD_ID:8548805 8789275 Tnf tumor necrosis factor gene DOID:9884 muscular dystrophy ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:10235436|REF_RGD_ID:10449464 8789275 Tnf tumor necrosis factor gene DOID:9970 obesity ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328671|PMID:20141834|PMID:29035695|PMID:9502777 8789275 Tnf tumor necrosis factor gene DOID:9970 obesity ISO RGD:1344192 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 8789275 Tnf tumor necrosis factor gene DOID:9970 obesity treatment ISO RGD:11429 D RGD:9068941 20200609 RGD PMID:24146106|REF_RGD_ID:10450599 8789275 Tnf tumor necrosis factor gene DOID:9993 hypoglycemia ISO RGD:1344192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8774068 8789287 Tmem209 transmembrane protein 209 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8789287 Tmem209 transmembrane protein 209 gene DOID:630 genetic disease ISO RGD:1605919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789331 Efhd2 EF-hand domain family member D2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316863 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8789331 Efhd2 EF-hand domain family member D2 gene DOID:630 genetic disease ISO RGD:1316863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789331 Efhd2 EF-hand domain family member D2 gene DOID:9006302 Binge Drinking ISO RGD:1316863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28397836 8789348 Ist1 IST1 factor associated with ESCRT-III gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8789348 Ist1 IST1 factor associated with ESCRT-III gene DOID:630 genetic disease ISO RGD:1605407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789364 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:732310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8789364 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:732310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8789364 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:732310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 8789364 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:732310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8789364 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:0110980 Joubert syndrome 1 ISO RGD:732310 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8789364 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:12849 autistic disorder ISO RGD:732310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8789364 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:5082 liver cirrhosis ISO RGD:732310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 8789364 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:732310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789364 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3297 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:7929120|REF_RGD_ID:1642378 8789364 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3297 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17116711|REF_RGD_ID:1642370 8789364 Pemt phosphatidylethanolamine N-methyltransferase gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:3297 D RGD:9068941 20200609 RGD PMID:17156888|REF_RGD_ID:1642369 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0050663 Bethlem myopathy ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:733688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0110266 cataract 9 multiple types ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0111679 glutamate formiminotransferase deficiency ISO RGD:733688 D RGD:7240710 20180130 OMIM 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:0111679 glutamate formiminotransferase deficiency ISO RGD:733688 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency PMID:12815595|PMID:16199547|PMID:17576681|PMID:18414213|PMID:23757202|PMID:24801232|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:29178637|PMID:29869163|PMID:30740726|PMID:31589614|PMID:9536098 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:1059 intellectual disability ISO RGD:733688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26633545|PMID:28492532 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:12849 autistic disorder ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:2661 myoepithelioma ISO RGD:733688 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:28492532 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:630 genetic disease ISO RGD:733688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12815595|PMID:23757202|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29178637|PMID:29869163|PMID:30740726 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:8584 Burkitt lymphoma ISO RGD:733688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:891 progressive myoclonus epilepsy ISO RGD:733688 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9000534 Ullrich Congenital Muscular Dystrophy 1 ISO RGD:733688 D RGD:8554872 20230627 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9007626 Myosclerosis, Autosomal Recessive ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:733688 D RGD:8554872 20220531 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9263 homocystinuria ISO RGD:733688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8789385 Ftcd formimidoyltransferase cyclodeaminase gene DOID:9562 primary ciliary dyskinesia ISO RGD:733688 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8789404 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:10652 Alzheimer's disease ISO RGD:735304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 8789404 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:10825 essential hypertension ISO RGD:735304 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:14654753|REF_RGD_ID:13800915 8789404 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:114 heart disease ISO RGD:735304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 8789404 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:630 genetic disease ISO RGD:735304 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789404 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:6432 pulmonary hypertension ISO RGD:621376 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, plasma (rat) PMID:27916219|REF_RGD_ID:13800892 8789404 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:6432 pulmonary hypertension treatment ISO RGD:621376 D RGD:9068941 20200609 RGD PMID:27491388|REF_RGD_ID:13800894 8789404 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8789404 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621376 D RGD:9068941 20200609 RGD associated with hypertension;protein:increased expression:heart left ventricle (rat) PMID:25900768|REF_RGD_ID:11085539 8789404 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:9005393 Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy ISO RGD:735304 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy PMID:16369530|PMID:19047566 8789404 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621376 D RGD:9068941 20200609 RGD PMID:28731155|REF_RGD_ID:13800891 8789404 Atp5pf ATP synthase peripheral stalk subunit F6 gene DOID:9008691 Liver Injury ISO RGD:621376 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:25772430|REF_RGD_ID:13800895 8789428 Tfap2e transcription factor AP-2 epsilon gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8789428 Tfap2e transcription factor AP-2 epsilon gene DOID:630 genetic disease ISO RGD:1352189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789456 Mettl26 methyltransferase like 26 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1603944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8789456 Mettl26 methyltransferase like 26 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8789456 Mettl26 methyltransferase like 26 gene DOID:1826 epilepsy ISO RGD:1603944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8789456 Mettl26 methyltransferase like 26 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8789456 Mettl26 methyltransferase like 26 gene DOID:630 genetic disease ISO RGD:1603944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789470 Zxdb zinc finger X-linked duplicated B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8789470 Zxdb zinc finger X-linked duplicated B gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1351401 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 8789470 Zxdb zinc finger X-linked duplicated B gene DOID:12849 autistic disorder ISO RGD:1351401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8789470 Zxdb zinc finger X-linked duplicated B gene DOID:630 genetic disease ISO RGD:1351401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789474 Vat1l vesicle amine transport 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:1605968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8789474 Vat1l vesicle amine transport 1 like gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1605968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 8789474 Vat1l vesicle amine transport 1 like gene DOID:630 genetic disease ISO RGD:1605968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789487 Trappc2 trafficking protein particle complex subunit 2 gene DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ISO RGD:1350228 D RGD:7240710 20181219 OMIM 8789487 Trappc2 trafficking protein particle complex subunit 2 gene DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda ISO RGD:1350228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked PMID:11326333|PMID:11349230|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 8789487 Trappc2 trafficking protein particle complex subunit 2 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1350228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:10999831|PMID:25741868|PMID:9990351 8789487 Trappc2 trafficking protein particle complex subunit 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350228 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:25674159|PMID:27081566|PMID:28492532 8789487 Trappc2 trafficking protein particle complex subunit 2 gene DOID:0112284 spondyloepiphyseal dysplasia tarda ISO RGD:1350228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda PMID:10431248|PMID:10999831|PMID:11326333|PMID:11424925|PMID:12030902|PMID:12446987|PMID:12919139|PMID:14755465|PMID:15221797|PMID:17576681|PMID:18414213|PMID:22563562|PMID:23656395|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098|PMID:9990351 8789487 Trappc2 trafficking protein particle complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:1350228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8789487 Trappc2 trafficking protein particle complex subunit 2 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:1350228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita 8789487 Trappc2 trafficking protein particle complex subunit 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1350228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8789487 Trappc2 trafficking protein particle complex subunit 2 gene DOID:630 genetic disease ISO RGD:1350228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326333|PMID:15221797|PMID:17576681|PMID:22563562|PMID:25741868|PMID:26252088|PMID:28492532|PMID:9536098 8789487 Trappc2 trafficking protein particle complex subunit 2 gene DOID:65 connective tissue disease ISO RGD:1350228 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11424925|PMID:25741868 8789487 Trappc2 trafficking protein particle complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8789496 Cntd1 cyclin N-terminal domain containing 1 gene DOID:630 genetic disease ISO RGD:1603365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789528 Timm23b translocase of inner mitochondrial membrane 23 homolog B gene DOID:5419 schizophrenia ISO RGD:1347528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8789550 Rnase12 ribonuclease A family member 12 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1353641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8789550 Rnase12 ribonuclease A family member 12 (inactive) gene DOID:630 genetic disease ISO RGD:1353641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789554 Amdhd1 amidohydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789568 Rpl10 ribosomal protein L10 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1350175 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8789568 Rpl10 ribosomal protein L10 gene DOID:0050476 Barth syndrome ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8789568 Rpl10 ribosomal protein L10 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8789568 Rpl10 ribosomal protein L10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8789568 Rpl10 ribosomal protein L10 gene DOID:0080241 syndromic X-linked mental retardation 35 ISO RGD:1350175 D RGD:7240710 20240320 OMIM 8789568 Rpl10 ribosomal protein L10 gene DOID:0080241 syndromic X-linked mental retardation 35 ISO RGD:1350175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 PMID:18258260|PMID:25316788|PMID:25741868|PMID:25846674|PMID:26290468|PMID:7626060 8789568 Rpl10 ribosomal protein L10 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 8789568 Rpl10 ribosomal protein L10 gene DOID:0112003 immunodeficiency 33 ISO RGD:1350175 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8789568 Rpl10 ribosomal protein L10 gene DOID:10588 adrenoleukodystrophy ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8789568 Rpl10 ribosomal protein L10 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8789568 Rpl10 ribosomal protein L10 gene DOID:12849 autistic disorder ISO RGD:1350175 D RGD:7240710 20240320 OMIM 8789568 Rpl10 ribosomal protein L10 gene DOID:12849 autistic disorder ISO RGD:1350175 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 5 PMID:16940977|PMID:21567917|PMID:21681106|PMID:25316788|PMID:25741868|PMID:30208311 8789568 Rpl10 ribosomal protein L10 gene DOID:13628 favism ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8789568 Rpl10 ribosomal protein L10 gene DOID:2729 dyskeratosis congenita ISO RGD:1350175 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8789568 Rpl10 ribosomal protein L10 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1350175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263491 8789568 Rpl10 ribosomal protein L10 gene DOID:607 paraplegia ISO RGD:1350175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8789568 Rpl10 ribosomal protein L10 gene DOID:630 genetic disease ISO RGD:1350175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8789568 Rpl10 ribosomal protein L10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8789568 Rpl10 ribosomal protein L10 gene DOID:9002720 Splenomegaly ISO RGD:1350175 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8789582 Ppp2r5d protein phosphatase 2 regulatory subunit B'delta gene DOID:0050444 infantile Refsum disease ISO RGD:1315410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8789582 Ppp2r5d protein phosphatase 2 regulatory subunit B'delta gene DOID:0070065 autosomal dominant intellectual developmental disorder 35 ISO RGD:1315410 D RGD:7240710 20180130 OMIM 8789582 Ppp2r5d protein phosphatase 2 regulatory subunit B'delta gene DOID:0070065 autosomal dominant intellectual developmental disorder 35 ISO RGD:1315410 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 | ClinVar Annotator: match by term: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome PMID:18414213|PMID:19344873|PMID:24896178|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:26576547|PMID:27350047|PMID:28191890|PMID:28492532|PMID:28554332|PMID:28867141|PMID:29051493|PMID:29296277|PMID:30676711|PMID:32005694|PMID:32074998|PMID:32295525|PMID:32371413|PMID:32743835|PMID:33004838|PMID:33098144|PMID:33482199|PMID:33628804|PMID:33727758|PMID:34490615|PMID:34906502|PMID:35813072|PMID:35887114|PMID:36216457 8789582 Ppp2r5d protein phosphatase 2 regulatory subunit B'delta gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:1315410 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities PMID:25741868|PMID:30676711|PMID:32295525 8789582 Ppp2r5d protein phosphatase 2 regulatory subunit B'delta gene DOID:1059 intellectual disability ISO RGD:1315410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30676711|PMID:32074998|PMID:33098144|PMID:34906502 8789582 Ppp2r5d protein phosphatase 2 regulatory subunit B'delta gene DOID:630 genetic disease ISO RGD:1315410 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19344873|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:26576547|PMID:27350047|PMID:28191890|PMID:28492532|PMID:28554332|PMID:28867141|PMID:29051493|PMID:29296277|PMID:30676711|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33482199|PMID:33727758|PMID:34490615|PMID:35887114|PMID:36216457 8789582 Ppp2r5d protein phosphatase 2 regulatory subunit B'delta gene DOID:680 tauopathy ISO RGD:1315411 D RGD:9068941 20200609 RGD PMID:21482799|REF_RGD_ID:13515115 8789582 Ppp2r5d protein phosphatase 2 regulatory subunit B'delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315410 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26168268|PMID:27350047|PMID:32074998 8789582 Ppp2r5d protein phosphatase 2 regulatory subunit B'delta gene DOID:9008086 Developmental Disabilities ISO RGD:1315410 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18414213|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30676711|PMID:32074998 8789582 Ppp2r5d protein phosphatase 2 regulatory subunit B'delta gene DOID:905 Zellweger syndrome ISO RGD:1315410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8789582 Ppp2r5d protein phosphatase 2 regulatory subunit B'delta gene DOID:936 brain disease ISO RGD:1315410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 8789620 Tsen15 tRNA splicing endonuclease subunit 15 gene DOID:0112329 pontocerebellar hypoplasia type 2F ISO RGD:1318440 D RGD:7240710 20190315 OMIM 8789620 Tsen15 tRNA splicing endonuclease subunit 15 gene DOID:0112329 pontocerebellar hypoplasia type 2F ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 2F PMID:25558065|PMID:25741868|PMID:27392077 8789620 Tsen15 tRNA splicing endonuclease subunit 15 gene DOID:1540 parathyroid carcinoma ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8789620 Tsen15 tRNA splicing endonuclease subunit 15 gene DOID:630 genetic disease ISO RGD:1318440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789620 Tsen15 tRNA splicing endonuclease subunit 15 gene DOID:9008086 Developmental Disabilities ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:27392077 8789620 Tsen15 tRNA splicing endonuclease subunit 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:11673832|REF_RGD_ID:126781761 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:0050902 medulloblastoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20168248 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:619563 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17119686|REF_RGD_ID:2289931 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:15788662|REF_RGD_ID:2289981 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:619563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10283 prostate cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10487 Hirschsprung's disease ISO RGD:10533 D RGD:9068941 20200609 RGD PMID:12526770|REF_RGD_ID:734940 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10487 Hirschsprung's disease ISO RGD:10533 D RGD:9068941 20220825 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10534 stomach cancer ISO RGD:619563 D RGD:7240710 20220209 OMIM 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10534 stomach cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:15457249|PMID:18339846|PMID:25157968 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:10591 pre-eclampsia ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:9158311|REF_RGD_ID:1580990 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:619563 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:22908275 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16685269|REF_RGD_ID:2298502 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:1107 esophageal carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:16397024|PMID:23220880|PMID:25157968|PMID:26619011 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:10533 D RGD:9068941 20200609 RGD PMID:12072561|REF_RGD_ID:734939 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:10533 D RGD:9068941 20220825 MouseDO 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:15685397|REF_RGD_ID:1580988 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:13133 HELLP syndrome ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:9158311|REF_RGD_ID:1580990 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:1324 lung cancer ISO RGD:619563 D RGD:7240710 20240124 OMIM 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:619563 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain PMID:15857400|REF_RGD_ID:2289955 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:15457249|PMID:18339846|PMID:22908275|PMID:25157968|PMID:26619011 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:182 calcinosis ISO RGD:619563 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:breast PMID:18256879|REF_RGD_ID:2289923 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:1909 melanoma ISO RGD:619563 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma | ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011|PMID:28492532 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2154 nephroblastoma ISO RGD:619563 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16932912|REF_RGD_ID:2289932 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2394 ovarian cancer ISO RGD:619563 D RGD:7240710 20210818 OMIM 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2513 basal cell carcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2526 prostate adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:23220880|PMID:26619011 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2615 papilloma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:16397024|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:25157968|PMID:26619011 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2671 transitional cell carcinoma severity ISO RGD:619563 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:17987577|REF_RGD_ID:2289927 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:22549618|REF_RGD_ID:126790474 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:299 adenocarcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21673877|PMID:22042947 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28235801 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3070 high grade glioma ISO RGD:619563 D RGD:7240710 20230505 OMIM 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3070 high grade glioma ISO RGD:619563 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:15457249 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3443 mammary Paget's disease ISO RGD:619563 D RGD:9068941 20200609 RGD DNA:amplification PMID:16932067|REF_RGD_ID:2289933 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3457 invasive lobular carcinoma severity ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16761510|REF_RGD_ID:2289935 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:363 uterine cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:16397024|PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011|PMID:28492532 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3713 ovary adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian adenocarcinoma PMID:15457249|PMID:18339846 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:15457249|PMID:16397024|PMID:16988931|PMID:18339846|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:24033266|PMID:24516025|PMID:25157968|PMID:26619011|PMID:28492532 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:15457249|PMID:15753357|PMID:16638863|PMID:16863509|PMID:18334834|PMID:22325357|PMID:22761469|PMID:24033266|PMID:25157968 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:15457249|PMID:22908275|PMID:24033266|PMID:26619011 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:26824984|REF_RGD_ID:126790475 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:619563 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:16397024|PMID:23220880|PMID:26619011|PMID:28492532 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10897039 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:17296437|REF_RGD_ID:2289930 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:619563 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15360049|REF_RGD_ID:2289987 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4465 papillary renal cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:4948 gallbladder carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:16397024|PMID:23220880|PMID:26619011|PMID:28492532 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:21709195|REF_RGD_ID:126781768 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:22908275|PMID:26619011 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:5520 head and neck squamous cell carcinoma disease_progression ISO RGD:619563 D RGD:9068941 20210423 RGD PMID:20604875|REF_RGD_ID:126790467 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:571 median neuropathy ISO RGD:2561 D RGD:9068941 20200609 RGD PMID:19296522|REF_RGD_ID:10449020 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:22908275|PMID:26619011 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:6000 congestive heart failure ISO RGD:2561 D RGD:9068941 20200609 RGD PMID:10421602|REF_RGD_ID:1580989 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:16397024|PMID:23220880|PMID:26619011|PMID:28492532 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:619563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:8923 skin melanoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532492 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:619563 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA, protein:polymorphism, increased expression:serum:p.I655V PMID:18237248|REF_RGD_ID:2289925 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:619563 D RGD:9068941 20200609 RGD associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder PMID:18097576|REF_RGD_ID:2289926 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:619563 D RGD:9068941 20220901 RGD associated with lung adenocarcinoma; protein:increased expression:lung (human) PMID:21966491|REF_RGD_ID:153344600 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22042947 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:619563 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:15640503|PMID:21532492|PMID:22042947 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000918 Disease Progression ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10897039|PMID:21638049|PMID:21750559 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:2561 D RGD:9068941 20200609 RGD rat gene in a mouse model PMID:11238891|REF_RGD_ID:734938 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984552 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14612517 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16771730|REF_RGD_ID:2289934 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11222871|PMID:16984552|PMID:17363613 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:2561 D RGD:9068941 20200609 RGD PMID:9030624|REF_RGD_ID:68774 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:15457249|PMID:18339846 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002801 Recurrence ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079691|PMID:21638049|PMID:26124351 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11222871 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:16397024|PMID:22908275|PMID:23220880|PMID:25157968|PMID:26619011 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16157365|REF_RGD_ID:2298504 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17465227|REF_RGD_ID:2289947 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003774 Familial Visceral Neuropathy 2, Autosomal Recessive ISO RGD:619563 D RGD:7240710 20211103 OMIM 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9003774 Familial Visceral Neuropathy 2, Autosomal Recessive ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral neuropathy, familial, 2, autosomal recessive PMID:33497358 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16962163|REF_RGD_ID:2289950 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16360440|REF_RGD_ID:2298503 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984552 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:619563 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism PMID:12483526 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2561 D RGD:9068941 20200609 RGD PMID:1913683|REF_RGD_ID:2289920 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2561 D RGD:9068941 20200609 RGD Androgen-dependent PMID:12150826|REF_RGD_ID:6482679 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25221644|PMID:8603490 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:17203220|REF_RGD_ID:2289979 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22302033 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21673877 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:2561 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium PMID:22285193|REF_RGD_ID:10449013 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:15685397|REF_RGD_ID:1580988 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:2561 D RGD:9068941 20200609 RGD protein:increased expression:oral epithelium PMID:17704947|REF_RGD_ID:2289941 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007568 Circulating Neoplastic Cells ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29044505 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007702 Carcinogenesis ISO RGD:619563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25221644 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:18202752|REF_RGD_ID:2298490 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:619563 D RGD:9068941 20200609 RGD DNA:amplification PMID:17945336|REF_RGD_ID:2298491 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:18413839|PMID:22046346|PMID:23220880|PMID:25157968|PMID:26619011 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:619563 D RGD:9068941 20200911 RGD associated with gastritis; PMID:25051417|REF_RGD_ID:38599160 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:16397024|PMID:16988931|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:24033266|PMID:24516025|PMID:25157968|PMID:26619011|PMID:28492532 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:15753357|PMID:16397024|PMID:16863509|PMID:16988931|PMID:18413839|PMID:22046346|PMID:22908275|PMID:23220880|PMID:24033266|PMID:24516025|PMID:25157968|PMID:26619011|PMID:28492532 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:619563 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:18269779|REF_RGD_ID:2289921 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008939 Breast Neoplasms treatment ISO RGD:619563 D RGD:9068941 20200609 RGD PMID:16609042|REF_RGD_ID:10401078 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:619563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:28492532|PMID:9536098 8789629 Erbb2 erb-b2 receptor tyrosine kinase 2 gene DOID:9256 colorectal cancer ISO RGD:619563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8789659 Myorg myogenesis regulating glycosidase (putative) gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8789659 Myorg myogenesis regulating glycosidase (putative) gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320364 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8789659 Myorg myogenesis regulating glycosidase (putative) gene DOID:0080942 anauxetic dysplasia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8789659 Myorg myogenesis regulating glycosidase (putative) gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8789659 Myorg myogenesis regulating glycosidase (putative) gene DOID:630 genetic disease ISO RGD:1320364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515 8789659 Myorg myogenesis regulating glycosidase (putative) gene DOID:9007487 Idiopathic Basal Ganglia Calcification 7 ISO RGD:1320364 D RGD:7240710 20190315 OMIM 8789659 Myorg myogenesis regulating glycosidase (putative) gene DOID:9007487 Idiopathic Basal Ganglia Calcification 7 ISO RGD:1320364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition PMID:25741868|PMID:28492532|PMID:29910000|PMID:30460687|PMID:30589467|PMID:30649222|PMID:30656188|PMID:31009047|PMID:31440850|PMID:31951047|PMID:32211515 8789659 Myorg myogenesis regulating glycosidase (putative) gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320364 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8789659 Myorg myogenesis regulating glycosidase (putative) gene DOID:9870 galactosemia ISO RGD:1320364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8789675 Dusp21 dual specificity phosphatase 21 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8789675 Dusp21 dual specificity phosphatase 21 gene DOID:12849 autistic disorder ISO RGD:1343692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8789675 Dusp21 dual specificity phosphatase 21 gene DOID:2256 osteochondrodysplasia ISO RGD:1343692 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 8789675 Dusp21 dual specificity phosphatase 21 gene DOID:630 genetic disease ISO RGD:1343692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789675 Dusp21 dual specificity phosphatase 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8789675 Dusp21 dual specificity phosphatase 21 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 8789692 Mnd1 meiotic nuclear divisions 1 gene DOID:630 genetic disease ISO RGD:1604777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789735 Cbs cystathionine beta-synthase gene DOID:0050731 vitamin B12 deficiency ISO RGD:2287 D RGD:9068941 20210108 RGD protein:decreased expression:liver (rat) PMID:2732804|REF_RGD_ID:40903037 8789735 Cbs cystathionine beta-synthase gene DOID:0060041 autism spectrum disorder ISO RGD:737316 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8789735 Cbs cystathionine beta-synthase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 8789735 Cbs cystathionine beta-synthase gene DOID:0080074 neural tube defect ISO RGD:737316 D RGD:9068941 20200609 RGD DNA:polymorphism:677C > T PMID:12649066|REF_RGD_ID:1600627 8789735 Cbs cystathionine beta-synthase gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:737316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8789735 Cbs cystathionine beta-synthase gene DOID:0110266 cataract 9 multiple types ISO RGD:737316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8789735 Cbs cystathionine beta-synthase gene DOID:1059 intellectual disability ISO RGD:737316 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10328723|PMID:10338090|PMID:10364517|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:12552044|PMID:1301198|PMID:14722927|PMID:15146473|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19819175|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:22069143|PMID:22267502|PMID:23592311|PMID:24033266|PMID:25516723|PMID:25741868|PMID:26750749|PMID:28492532|PMID:28583326|PMID:33057012|PMID:33223529|PMID:6711564|PMID:7506602|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8528202|PMID:8554066|PMID:8803779|PMID:8940271|PMID:9156316|PMID:9708897|PMID:9864922 8789735 Cbs cystathionine beta-synthase gene DOID:10763 hypertension ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18224302 8789735 Cbs cystathionine beta-synthase gene DOID:12365 malaria susceptibility ISO RGD:737316 D RGD:9068941 20210108 RGD DNA:insertion:cds: (844ins68) (human) PMID:27198213|REF_RGD_ID:40903062 8789735 Cbs cystathionine beta-synthase gene DOID:1287 cardiovascular system disease ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16791140 8789735 Cbs cystathionine beta-synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:737316 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9864922|PMID:9889017 8789735 Cbs cystathionine beta-synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:737316 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9790750|PMID:9864922|PMID:9889017 8789735 Cbs cystathionine beta-synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:737316 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26464485|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9864922|PMID:9889017 8789735 Cbs cystathionine beta-synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:737316 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10780316|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11524006|PMID:11553052|PMID:11748855|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:12815602|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:18201569|PMID:18280597|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19914636|PMID:20031640|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20694756|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23934999|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26132555|PMID:26464485|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:29158550|PMID:29205322|PMID:29352562|PMID:29590070|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30380942|PMID:30556376|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:9156316|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9675031|PMID:9708897|PMID:9864922|PMID:9889017 8789735 Cbs cystathionine beta-synthase gene DOID:1909 melanoma ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25205294 8789735 Cbs cystathionine beta-synthase gene DOID:224 transient cerebral ischemia ISO RGD:10297 D RGD:9068941 20210219 RGD XCO:0000348 PMID:22212488|REF_RGD_ID:41410880 8789735 Cbs cystathionine beta-synthase gene DOID:224 transient cerebral ischemia treatment ISO RGD:10297 D RGD:9068941 20210219 RGD XCO:0000807 PMID:22212488|REF_RGD_ID:41410880 8789735 Cbs cystathionine beta-synthase gene DOID:2843 long QT syndrome ISO RGD:737316 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:12686134|PMID:17069888|PMID:17352495|PMID:20308073|PMID:20490928|PMID:20506325|PMID:22267502|PMID:22612060|PMID:22985361|PMID:25331909|PMID:26132555|PMID:28492532|PMID:7967489|PMID:7981678 8789735 Cbs cystathionine beta-synthase gene DOID:3393 coronary artery disease ISO RGD:737316 D RGD:9068941 20200609 RGD CBS variant c.844ins68 PMID:12855221|REF_RGD_ID:1600626 8789735 Cbs cystathionine beta-synthase gene DOID:3526 cerebral infarction susceptibility ISO RGD:737316 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes:multiple PMID:20458436|REF_RGD_ID:401794454 8789735 Cbs cystathionine beta-synthase gene DOID:399 tuberculosis ISO RGD:10297 D RGD:9068941 20210108 RGD protein:increased expression:macrophages (mouse) PMID:31992699|REF_RGD_ID:40903052 8789735 Cbs cystathionine beta-synthase gene DOID:399 tuberculosis severity ISO RGD:10297 D RGD:9068941 20210108 RGD PMID:31992699|REF_RGD_ID:40903052 8789735 Cbs cystathionine beta-synthase gene DOID:630 genetic disease ISO RGD:737316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10338090|PMID:10363126|PMID:11204591|PMID:12124992|PMID:12815602|PMID:15365998|PMID:15993874|PMID:16205833|PMID:16429402|PMID:16470595|PMID:16479318|PMID:19906435|PMID:20506325|PMID:20601281|PMID:21240075|PMID:21520339|PMID:22002135|PMID:22069143|PMID:22267502|PMID:24033266|PMID:24138954|PMID:25218699|PMID:25336647|PMID:25741868|PMID:27681349|PMID:28492532|PMID:29352562|PMID:31301157|PMID:32232970|PMID:32245022|PMID:32769498|PMID:33335839|PMID:35281663|PMID:7762555|PMID:8940271|PMID:8940285|PMID:9361025|PMID:9813456 8789735 Cbs cystathionine beta-synthase gene DOID:65 connective tissue disease ISO RGD:737316 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10328723|PMID:10338090|PMID:10364517|PMID:10807759|PMID:11230183|PMID:11359213|PMID:11434706|PMID:12124992|PMID:12552044|PMID:12686134|PMID:1301198|PMID:14635102|PMID:14722927|PMID:15146473|PMID:15192637|PMID:15494741|PMID:16375773|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19819175|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21062078|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22069143|PMID:22267502|PMID:22612060|PMID:23592311|PMID:24033266|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26750749|PMID:26990548|PMID:28152038|PMID:28492532|PMID:28583326|PMID:29205322|PMID:29650765|PMID:30165906|PMID:30380942|PMID:31139930|PMID:31211624|PMID:31301157|PMID:31664448|PMID:32245022|PMID:33223529|PMID:6711564|PMID:7506602|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8554066|PMID:8803779|PMID:8940271|PMID:9361025|PMID:9708897|PMID:9864922 8789735 Cbs cystathionine beta-synthase gene DOID:891 progressive myoclonus epilepsy ISO RGD:737316 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8789735 Cbs cystathionine beta-synthase gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:2287 D RGD:9068941 20240210 RGD mRNA:altered expression:hippocampus|hypothalamus (rat) PMID:26180184|REF_RGD_ID:11074449 8789735 Cbs cystathionine beta-synthase gene DOID:9003619 Homocystinuria, Pyridoxine-Responsive ISO RGD:737316 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive PMID:10215408|PMID:10328723|PMID:10338090|PMID:10364517|PMID:10408774|PMID:10531322|PMID:10807759|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12552044|PMID:12686134|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16479318|PMID:16619244|PMID:17069888|PMID:17072863|PMID:17540596|PMID:18201569|PMID:18805305|PMID:19232736|PMID:19819175|PMID:20066033|PMID:20308073|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:21520339|PMID:21626167|PMID:22069143|PMID:22267502|PMID:22333527|PMID:22612060|PMID:22738154|PMID:22985361|PMID:23592311|PMID:23974653|PMID:24033266|PMID:24211323|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25516723|PMID:25741868|PMID:26750749|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28488385|PMID:28492532|PMID:28583326|PMID:29650765|PMID:30050925|PMID:32000841|PMID:32232970|PMID:32245022|PMID:33057012|PMID:33223529|PMID:33985475|PMID:34426522|PMID:6711564|PMID:7506602|PMID:7611293|PMID:7635485|PMID:7762555|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8990018|PMID:9361025|PMID:9587029|PMID:9708897|PMID:9864922 8789735 Cbs cystathionine beta-synthase gene DOID:9004484 Sepsis susceptibility ISO RGD:737316 D RGD:9068941 20210108 RGD DNA:SNP:intron (rs6586282, rs34758144) (human) PMID:26508567|REF_RGD_ID:40903018 8789735 Cbs cystathionine beta-synthase gene DOID:9005695 Malnutrition ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 8789735 Cbs cystathionine beta-synthase gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:2287 D RGD:9068941 20210108 RGD protein:increased expression:arcuate nucleus (rat) PMID:27778022|REF_RGD_ID:38456012 8789735 Cbs cystathionine beta-synthase gene DOID:9005930 Endotoxemia ISO RGD:10297 D RGD:9068941 20210108 RGD PMID:27748832|REF_RGD_ID:40903019 8789735 Cbs cystathionine beta-synthase gene DOID:9005930 Endotoxemia ISO RGD:2287 D RGD:9068941 20210108 RGD mRNA:increased expression:liver (rat) PMID:16100527|REF_RGD_ID:40903049 8789735 Cbs cystathionine beta-synthase gene DOID:9005930 Endotoxemia severity ISO RGD:10297 D RGD:9068941 20210108 RGD PMID:24702258|REF_RGD_ID:40903035 8789735 Cbs cystathionine beta-synthase gene DOID:9005930 Endotoxemia severity ISO RGD:10297 D RGD:9068941 20210108 RGD Protein:increased expression:spleen, lung (mouse) PMID:27748832|REF_RGD_ID:40903019 8789735 Cbs cystathionine beta-synthase gene DOID:9263 homocystinuria ISO RGD:737316 D RGD:7240710 20180130 OMIM 8789735 Cbs cystathionine beta-synthase gene DOID:9263 homocystinuria ISO RGD:737316 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CBS deficiency | ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | ClinVar Annotator: match by term: Homocystinuria | ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive PMID:10215408|PMID:10328723|PMID:10338090|PMID:10363126|PMID:10364517|PMID:10408774|PMID:10462600|PMID:10531322|PMID:10687314|PMID:10780316|PMID:10807759|PMID:11013450|PMID:11204591|PMID:11230183|PMID:11343305|PMID:11359213|PMID:11434706|PMID:11522031|PMID:11524006|PMID:11553052|PMID:11748855|PMID:11774777|PMID:11926827|PMID:12007221|PMID:12124992|PMID:12269827|PMID:12379655|PMID:12552044|PMID:12686134|PMID:12815602|PMID:12828591|PMID:1301198|PMID:14635102|PMID:14722619|PMID:14722927|PMID:14739681|PMID:14972327|PMID:15087459|PMID:15146473|PMID:15192637|PMID:15365998|PMID:15494741|PMID:15993874|PMID:16167124|PMID:16199547|PMID:16205833|PMID:16245937|PMID:16307898|PMID:16375773|PMID:16429402|PMID:16470595|PMID:16479318|PMID:16619244|PMID:16786517|PMID:17056636|PMID:17069888|PMID:17072863|PMID:17319270|PMID:17327360|PMID:17352495|PMID:17540596|PMID:17576681|PMID:17601930|PMID:18194900|PMID:18201569|PMID:18280597|PMID:18423051|PMID:18454451|PMID:18708589|PMID:18805305|PMID:18950795|PMID:19232736|PMID:19370759|PMID:19429038|PMID:19819175|PMID:19906435|PMID:19914636|PMID:20031640|PMID:20051935|PMID:20066033|PMID:20308073|PMID:20455263|PMID:20490928|PMID:20506325|PMID:2056790|PMID:20567906|PMID:20601281|PMID:20694756|PMID:20821054|PMID:20871414|PMID:21030686|PMID:21062078|PMID:21240075|PMID:21308989|PMID:21517828|PMID:2152033|PMID:21520339|PMID:21626167|PMID:21957013|PMID:22002135|PMID:22069143|PMID:22140583|PMID:22267502|PMID:22333527|PMID:22353391|PMID:22382802|PMID:22612060|PMID:22738154|PMID:22891245|PMID:22977242|PMID:22985361|PMID:23592311|PMID:23733603|PMID:23812867|PMID:23934999|PMID:23974653|PMID:23981774|PMID:24033266|PMID:24138954|PMID:24211323|PMID:24613005|PMID:24990611|PMID:25044645|PMID:25087612|PMID:25197074|PMID:25218699|PMID:25331909|PMID:25336647|PMID:25455305|PMID:25516723|PMID:25640679|PMID:25741868|PMID:25939784|PMID:26132555|PMID:26464485|PMID:26667307|PMID:26750749|PMID:26990548|PMID:27243974|PMID:27604992|PMID:27681349|PMID:27861796|PMID:27959664|PMID:28097321|PMID:28152038|PMID:28303347|PMID:28421128|PMID:28488385|PMID:28492532|PMID:28550590|PMID:28583326|PMID:28835823|PMID:28980096|PMID:29158550|PMID:29205322|PMID:29326875|PMID:29352562|PMID:29508359|PMID:29590070|PMID:29600437|PMID:29650765|PMID:30019023|PMID:30050925|PMID:30165906|PMID:30202406|PMID:30246729|PMID:30380942|PMID:30556376|PMID:30732165|PMID:30873612|PMID:31139930|PMID:31211624|PMID:31240737|PMID:31279624|PMID:31301157|PMID:31664448|PMID:32000841|PMID:32232970|PMID:32245022|PMID:32768567|PMID:32769498|PMID:33057012|PMID:33223529|PMID:33335839|PMID:33985475|PMID:34426522|PMID:34449519|PMID:34449521|PMID:34818515|PMID:34842599|PMID:35281663|PMID:6711564|PMID:7506602|PMID:7564249|PMID:7581402|PMID:7611293|PMID:7635485|PMID:7762555|PMID:7849717|PMID:7967489|PMID:7981678|PMID:8353501|PMID:8528202|PMID:8554066|PMID:8744616|PMID:8755636|PMID:8803779|PMID:8940271|PMID:8940285|PMID:8990018|PMID:9156316|PMID:9232191|PMID:9266356|PMID:9361025|PMID:9536098|PMID:9587029|PMID:9590298|PMID:9675031|PMID:9708897|PMID:9813456|PMID:9864922|PMID:9870207|PMID:9889017 8789735 Cbs cystathionine beta-synthase gene DOID:9279 hyperhomocysteinemia ISO RGD:737316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperhomocysteinemia PMID:12686134|PMID:16205833|PMID:16479318|PMID:21517828|PMID:22267502|PMID:22977242|PMID:25741868|PMID:28492532|PMID:7762555 8789735 Cbs cystathionine beta-synthase gene DOID:9279 hyperhomocysteinemia susceptibility ISO RGD:737316 D RGD:9068941 20210108 RGD associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human) PMID:10704624|REF_RGD_ID:40903036 8789735 Cbs cystathionine beta-synthase gene DOID:9352 type 2 diabetes mellitus ISO RGD:737316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 8789735 Cbs cystathionine beta-synthase gene DOID:9562 primary ciliary dyskinesia ISO RGD:737316 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8789735 Cbs cystathionine beta-synthase gene DOID:9778 irritable bowel syndrome severity ISO RGD:10297 D RGD:9068941 20210108 RGD PMID:27472293|REF_RGD_ID:40903054 8789774 Leap2 liver enriched antimicrobial peptide 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8789774 Leap2 liver enriched antimicrobial peptide 2 gene DOID:630 genetic disease ISO RGD:1601831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789774 Leap2 liver enriched antimicrobial peptide 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8789774 Leap2 liver enriched antimicrobial peptide 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8789782 LOC102008188 core histone macro-H2A.1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:736206 D RGD:9068941 20220825 MouseDO OMIM:614286 8789782 LOC102008188 core histone macro-H2A.1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8789782 LOC102008188 core histone macro-H2A.1 gene DOID:630 genetic disease ISO RGD:731902 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789782 LOC102008188 core histone macro-H2A.1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8789782 LOC102008188 core histone macro-H2A.1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8789782 LOC102008188 core histone macro-H2A.1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8789802 Ddx60 DExD/H-box helicase 60 gene DOID:10283 prostate cancer ISO RGD:1604355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8789802 Ddx60 DExD/H-box helicase 60 gene DOID:630 genetic disease ISO RGD:1604355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789802 Ddx60 DExD/H-box helicase 60 gene DOID:9001488 Human Influenza ISO RGD:1604355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8789846 Fndc8 fibronectin type III domain containing 8 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603304 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 8789846 Fndc8 fibronectin type III domain containing 8 gene DOID:630 genetic disease ISO RGD:1603304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789846 Fndc8 fibronectin type III domain containing 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8789859 Ivl involucrin gene DOID:0111940 immunodeficiency 42 ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8789859 Ivl involucrin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8789859 Ivl involucrin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8789859 Ivl involucrin gene DOID:1540 parathyroid carcinoma ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8789859 Ivl involucrin gene DOID:1749 squamous cell carcinoma ISO RGD:1314662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8789859 Ivl involucrin gene DOID:5812 MHC class II deficiency ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8789859 Ivl involucrin gene DOID:630 genetic disease ISO RGD:1314662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789859 Ivl involucrin gene DOID:9004464 Skin Neoplasms ISO RGD:1314662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8789859 Ivl involucrin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8789865 Prmt9 protein arginine methyltransferase 9 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1601836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 8789865 Prmt9 protein arginine methyltransferase 9 gene DOID:630 genetic disease ISO RGD:1601836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789865 Prmt9 protein arginine methyltransferase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 8789881 Plpbp pyridoxal phosphate binding protein gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1319041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8789881 Plpbp pyridoxal phosphate binding protein gene DOID:0080769 early-onset vitamin B6-dependent epilepsy 1 ISO RGD:1319041 D RGD:7240710 20190315 OMIM 8789881 Plpbp pyridoxal phosphate binding protein gene DOID:0080769 early-onset vitamin B6-dependent epilepsy 1 ISO RGD:1319041 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epilepsy, early-onset, vitamin B6-dependent PMID:16199547|PMID:25741868|PMID:27912044|PMID:28391250|PMID:28492532|PMID:28914444|PMID:29689137|PMID:30160830|PMID:30525118|PMID:31687261|PMID:31737911|PMID:31741821|PMID:33728241|PMID:33766999|PMID:33977028 8789881 Plpbp pyridoxal phosphate binding protein gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1319041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8789881 Plpbp pyridoxal phosphate binding protein gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1319041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8789881 Plpbp pyridoxal phosphate binding protein gene DOID:607 paraplegia ISO RGD:1319041 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8789881 Plpbp pyridoxal phosphate binding protein gene DOID:630 genetic disease ISO RGD:1319041 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8789901 Alkbh6 alkB homolog 6 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8789901 Alkbh6 alkB homolog 6 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8789901 Alkbh6 alkB homolog 6 gene DOID:630 genetic disease ISO RGD:1605913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789921 Mag myelin associated glycoprotein gene DOID:0050256 angiostrongyliasis disease_progression ISO RGD:736776 D RGD:9068941 20200609 RGD PMID:20399564|REF_RGD_ID:27226693 8789921 Mag myelin associated glycoprotein gene DOID:0110222 Brugada syndrome 5 ISO RGD:732303 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8789921 Mag myelin associated glycoprotein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732303 D RGD:7240710 20180130 OMIM 8789921 Mag myelin associated glycoprotein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:17576681|PMID:24482476|PMID:25741868|PMID:26179919|PMID:28492532|PMID:28832565|PMID:31227335|PMID:31402626|PMID:9536098 8789921 Mag myelin associated glycoprotein gene DOID:11446 sciatic neuropathy treatment ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:17705198|REF_RGD_ID:9685295 8789921 Mag myelin associated glycoprotein gene DOID:12217 Lewy body dementia ISO RGD:732303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8789921 Mag myelin associated glycoprotein gene DOID:14330 Parkinson's disease ISO RGD:732303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8789921 Mag myelin associated glycoprotein gene DOID:2377 multiple sclerosis ISO RGD:732303 D RGD:9068941 20200609 RGD PMID:2419505|REF_RGD_ID:9685292 8789921 Mag myelin associated glycoprotein gene DOID:2476 hereditary spastic paraplegia ISO RGD:732303 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565|PMID:31402626 8789921 Mag myelin associated glycoprotein gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:15678116|REF_RGD_ID:9685232 8789921 Mag myelin associated glycoprotein gene DOID:543 dystonia ISO RGD:732303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8789921 Mag myelin associated glycoprotein gene DOID:573 nerve compression syndrome ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:16764860|REF_RGD_ID:9685296 8789921 Mag myelin associated glycoprotein gene DOID:630 genetic disease ISO RGD:732303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8789921 Mag myelin associated glycoprotein gene DOID:9000998 Brain Injuries susceptibility ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:17156367|REF_RGD_ID:9685230 8789921 Mag myelin associated glycoprotein gene DOID:9002498 Wallerian Degeneration ISO RGD:3035 D RGD:9068941 20200609 RGD PMID:12730963|REF_RGD_ID:9685301 8789921 Mag myelin associated glycoprotein gene DOID:9006973 Acute Experimental Autoimmune Encephalomyelitis ISO RGD:3035 D RGD:9068941 20200609 RGD protein:decreased expression:optic nerve PMID:9820787|REF_RGD_ID:9685300 8789943 Stk17a serine/threonine kinase 17a gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8789943 Stk17a serine/threonine kinase 17a gene DOID:630 genetic disease ISO RGD:1342550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789953 L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1318418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8789953 L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0050902 medulloblastoma ISO RGD:1318418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8789953 L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1318418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 8789953 L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1318418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 8789953 L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 gene DOID:630 genetic disease ISO RGD:1318418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789974 Trpc4ap transient receptor potential cation channel subfamily C member 4 associated protein gene DOID:2843 long QT syndrome ISO RGD:1320513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8789974 Trpc4ap transient receptor potential cation channel subfamily C member 4 associated protein gene DOID:630 genetic disease ISO RGD:1320513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8789999 Zic1 Zic family member 1 gene DOID:0050777 Joubert syndrome ISO RGD:735695 D RGD:9068941 20220825 MouseDO 8789999 Zic1 Zic family member 1 gene DOID:2340 craniosynostosis ISO RGD:735694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8789999 Zic1 Zic family member 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:735694 D RGD:9068941 20200609 RGD PMID:15338008|REF_RGD_ID:1599905 8789999 Zic1 Zic family member 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:735695 D RGD:9068941 20220825 MouseDO OMIM:220200 8789999 Zic1 Zic family member 1 gene DOID:630 genetic disease ISO RGD:735694 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8789999 Zic1 Zic family member 1 gene DOID:9002109 STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS ISO RGD:735694 D RGD:7240710 20200226 OMIM 8789999 Zic1 Zic family member 1 gene DOID:9002109 STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS ISO RGD:735694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Structural brain anomalies with impaired intellectual development and craniosynostosis PMID:26340333|PMID:30391508 8789999 Zic1 Zic family member 1 gene DOID:9003835 Craniosynostosis 6 ISO RGD:735694 D RGD:7240710 20180130 OMIM 8789999 Zic1 Zic family member 1 gene DOID:9003835 Craniosynostosis 6 ISO RGD:735694 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Craniosynostosis 6 PMID:25741868|PMID:26340333|PMID:28492532 8790007 Aqp9 aquaporin 9 gene DOID:0060041 autism spectrum disorder ISO RGD:735505 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8790007 Aqp9 aquaporin 9 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23563754 8790007 Aqp9 aquaporin 9 gene DOID:1240 leukemia ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15336539 8790007 Aqp9 aquaporin 9 gene DOID:2717 Bloom syndrome ISO RGD:735505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8790007 Aqp9 aquaporin 9 gene DOID:630 genetic disease ISO RGD:735505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790007 Aqp9 aquaporin 9 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8790007 Aqp9 aquaporin 9 gene DOID:9005968 Neuralgia ameliorates ISO RGD:68433 D RGD:9068941 20220623 RGD PMID:31746418|REF_RGD_ID:152995474 8790007 Aqp9 aquaporin 9 gene DOID:9006854 MPTP Poisoning ISO RGD:735505 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:29566083 8790007 Aqp9 aquaporin 9 gene DOID:9007964 Arsenic Poisoning ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19805235 8790007 Aqp9 aquaporin 9 gene DOID:9008091 Optic Nerve Injuries ISO RGD:68433 D RGD:9068941 20200609 RGD PMID:20216911|REF_RGD_ID:2326035 8790007 Aqp9 aquaporin 9 gene DOID:9119 acute myeloid leukemia ISO RGD:735505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16968895 8790007 Aqp9 aquaporin 9 gene DOID:9256 colorectal cancer ISO RGD:735505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8790032 Suds3 SDS3 homolog, SIN3A corepressor complex component gene DOID:630 genetic disease ISO RGD:1605050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790057 Wdr24 WD repeat domain 24 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1344935 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 PMID:25741868 8790057 Wdr24 WD repeat domain 24 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8790057 Wdr24 WD repeat domain 24 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344935 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8790057 Wdr24 WD repeat domain 24 gene DOID:1826 epilepsy ISO RGD:1344935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8790057 Wdr24 WD repeat domain 24 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8790057 Wdr24 WD repeat domain 24 gene DOID:630 genetic disease ISO RGD:1344935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790087 Abhd17b abhydrolase domain containing 17B, depalmitoylase gene DOID:630 genetic disease ISO RGD:1313162 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790109 Tekt3 tektin 3 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:1303230|PMID:1677316|PMID:1822787|PMID:28492532 8790109 Tekt3 tektin 3 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1321573 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome PMID:12439896|PMID:18698610|PMID:21670407|PMID:7825607|PMID:8422677|PMID:8541860 8790109 Tekt3 tektin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 8790109 Tekt3 tektin 3 gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:1321573 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Tomaculous neuropathy PMID:12439896|PMID:18698610|PMID:21670407|PMID:7825607|PMID:8422677|PMID:8541860 8790109 Tekt3 tektin 3 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 8790109 Tekt3 tektin 3 gene DOID:12849 autistic disorder ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8790109 Tekt3 tektin 3 gene DOID:5419 schizophrenia ISO RGD:1321573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8790109 Tekt3 tektin 3 gene DOID:630 genetic disease ISO RGD:1321573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790109 Tekt3 tektin 3 gene DOID:9003963 Spermatogenic Failure 81 ISO RGD:1321573 D RGD:7240710 20230505 OMIM 8790109 Tekt3 tektin 3 gene DOID:9003963 Spermatogenic Failure 81 ISO RGD:1321573 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 81 PMID:36708031 8790126 Lin37 lin-37 DREAM MuvB core complex component gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8790126 Lin37 lin-37 DREAM MuvB core complex component gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8790126 Lin37 lin-37 DREAM MuvB core complex component gene DOID:543 dystonia ISO RGD:1603391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8790126 Lin37 lin-37 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1603391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790149 Rpl22l1 ribosomal protein L22 like 1 gene DOID:1062 Fanconi syndrome ISO RGD:1602286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8790149 Rpl22l1 ribosomal protein L22 like 1 gene DOID:630 genetic disease ISO RGD:1602286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790166 Cep44 centrosomal protein 44 gene DOID:630 genetic disease ISO RGD:1318333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790166 Cep44 centrosomal protein 44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8790185 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8790185 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8790185 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8790185 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8790185 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8790185 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:5812 MHC class II deficiency ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8790185 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:630 genetic disease ISO RGD:1314529 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790185 Entrep3 endosomal transmembrane epsin interactor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8790201 Tcp11l1 t-complex 11 like 1 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1602322 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex PMID:25741868 8790201 Tcp11l1 t-complex 11 like 1 gene DOID:1059 intellectual disability ISO RGD:1602322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8790201 Tcp11l1 t-complex 11 like 1 gene DOID:630 genetic disease ISO RGD:1602322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790230 Adgra3 adhesion G protein-coupled receptor A3 gene DOID:10584 retinitis pigmentosa ISO RGD:1312627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:23105016|PMID:26355662|PMID:28492532|PMID:30718709 8790230 Adgra3 adhesion G protein-coupled receptor A3 gene DOID:630 genetic disease ISO RGD:1312627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8790230 Adgra3 adhesion G protein-coupled receptor A3 gene DOID:8501 fundus dystrophy ISO RGD:1312627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:28714225 8790255 Tor3a torsin family 3 member A gene DOID:1540 parathyroid carcinoma ISO RGD:1320812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8790255 Tor3a torsin family 3 member A gene DOID:630 genetic disease ISO RGD:1320812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790255 Tor3a torsin family 3 member A gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1320812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8790255 Tor3a torsin family 3 member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8790286 Art4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1315084 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8790286 Art4 ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) gene DOID:630 genetic disease ISO RGD:1315084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790293 Flnc filamin C gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1318791 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy PMID:25741868|PMID:28492532|PMID:32112656|PMID:34587765|PMID:37164047 8790293 Flnc filamin C gene DOID:0050700 cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25351925|PMID:25741868|PMID:28492532|PMID:30418145|PMID:30919686 8790293 Flnc filamin C gene DOID:0050700 cardiomyopathy ISO RGD:1318791 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27908349|PMID:28356264|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28781516|PMID:28866788|PMID:29706348|PMID:30086531|PMID:30411535|PMID:30418145|PMID:30847666|PMID:30919686|PMID:30996762|PMID:31245841|PMID:32112656|PMID:34411373|PMID:34587765|PMID:35026164|PMID:35276540|PMID:35470680|PMID:35653365|PMID:37164047|PMID:37280362 8790293 Flnc filamin C gene DOID:0050952 spastic ataxia ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8790293 Flnc filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:7240710 20180130 OMIM 8790293 Flnc filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29030401|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098 8790293 Flnc filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32160020|PMID:32165824|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098 8790293 Flnc filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: FILAMINOPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36264615|PMID:36286284|PMID:37280362|PMID:9536098 8790293 Flnc filamin C gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1318791 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:15929027|PMID:16199547|PMID:17412757|PMID:17576681|PMID:18414213|PMID:19050726|PMID:21135393|PMID:21520333|PMID:21620354|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25640679|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28256728|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28798025|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29551499|PMID:29650767|PMID:29706348|PMID:29792937|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30118858|PMID:30260051|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30685713|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30935706|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31317183|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32022900|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32295012|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32870709|PMID:32880476|PMID:33041974|PMID:33250842|PMID:33557094|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35140110|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:37164047|PMID:37280362|PMID:9536098 8790293 Flnc filamin C gene DOID:0080307 myofibrillar myopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy PMID:15929027|PMID:22961544|PMID:25741868|PMID:26472074|PMID:26969713|PMID:28492532|PMID:32022900 8790293 Flnc filamin C gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:26555887|PMID:28492532|PMID:31513939|PMID:32112656 8790293 Flnc filamin C gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 8790293 Flnc filamin C gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:26555887|PMID:28492532|PMID:31513939|PMID:32112656 8790293 Flnc filamin C gene DOID:0110327 hypertrophic cardiomyopathy 26 ISO RGD:1318791 D RGD:7240710 20190315 OMIM 8790293 Flnc filamin C gene DOID:0110327 hypertrophic cardiomyopathy 26 ISO RGD:1318791 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 15 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 | ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 5 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29235529|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32037394|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:32870709|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:35903116|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:37164047|PMID:37280362|PMID:9536098 8790293 Flnc filamin C gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1318791 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:27908349|PMID:28492532|PMID:32112656|PMID:33874732 8790293 Flnc filamin C gene DOID:0111190 distal myopathy 4 ISO RGD:1318791 D RGD:7240710 20180130 OMIM 8790293 Flnc filamin C gene DOID:0111190 distal myopathy 4 ISO RGD:1318791 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement | ClinVar Annotator: match by term: Myopathy, distal, 4 | ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY PMID:15824355|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:21620354|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:2781633|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30734317|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:35903116|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:37164047|PMID:37280362|PMID:9536098 8790293 Flnc filamin C gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:28492532 8790293 Flnc filamin C gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:26467025|PMID:26555887|PMID:28492532|PMID:31513939|PMID:32112656 8790293 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:21520333|PMID:25741868|PMID:26436962|PMID:26666891|PMID:27908349|PMID:28356264|PMID:28492532|PMID:29858533|PMID:31245841|PMID:31627847|PMID:32112656|PMID:32603605 8790293 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098 8790293 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Cardiomyopathy, fatal infantile | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28166811|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34935411|PMID:9536098 8790293 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098 8790293 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29517769|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32160020|PMID:32165824|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:9536098 8790293 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098 8790293 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:22961544|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26472074|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26969713|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098 8790293 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25326637|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:9536098 8790293 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32165824|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:36129056|PMID:9536098 8790293 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35463915|PMID:35470680|PMID:36104822|PMID:36129056|PMID:9536098 8790293 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36264615|PMID:36286284|PMID:37280362|PMID:9536098 8790293 Flnc filamin C gene DOID:12930 dilated cardiomyopathy ISO RGD:1318791 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15929027|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21135393|PMID:21520333|PMID:23109048|PMID:24033266|PMID:24972929|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25351925|PMID:25617006|PMID:25633252|PMID:25741868|PMID:26436962|PMID:26467025|PMID:26555887|PMID:26666891|PMID:26688388|PMID:26863999|PMID:26899768|PMID:27171548|PMID:27296017|PMID:27574918|PMID:27601210|PMID:27896284|PMID:27908349|PMID:27956632|PMID:28008423|PMID:28138913|PMID:28356264|PMID:28403181|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28664140|PMID:28749476|PMID:28781516|PMID:28866788|PMID:28902392|PMID:29144512|PMID:29212899|PMID:29517769|PMID:29650767|PMID:29706348|PMID:29858533|PMID:29970176|PMID:30025578|PMID:30067491|PMID:30086531|PMID:30354339|PMID:30403391|PMID:30411535|PMID:30418145|PMID:30471092|PMID:30539912|PMID:30847666|PMID:30919686|PMID:30975432|PMID:30996762|PMID:31127727|PMID:31245841|PMID:31376648|PMID:31421687|PMID:31506931|PMID:31513939|PMID:31624253|PMID:31627847|PMID:31641117|PMID:31918855|PMID:31924696|PMID:32112656|PMID:32154132|PMID:32160020|PMID:32344918|PMID:32528171|PMID:32532510|PMID:32603605|PMID:32746448|PMID:33041974|PMID:33250842|PMID:33710525|PMID:33874732|PMID:33890751|PMID:34411373|PMID:34587765|PMID:34601126|PMID:34935411|PMID:35026164|PMID:35276540|PMID:35463915|PMID:35470680|PMID:35653365|PMID:36104822|PMID:36129056|PMID:36178741|PMID:36264615|PMID:36286284|PMID:37164047|PMID:37280362|PMID:9536098 8790293 Flnc filamin C gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1318791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 8790293 Flnc filamin C gene DOID:397 restrictive cardiomyopathy ISO RGD:1318791 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28356264|PMID:28492532|PMID:30260051|PMID:30418145|PMID:32659924 8790293 Flnc filamin C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8790293 Flnc filamin C gene DOID:630 genetic disease ISO RGD:1318791 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21520333|PMID:25741868|PMID:26436962|PMID:28356264|PMID:28492532|PMID:29858533|PMID:30067491 8790293 Flnc filamin C gene DOID:6419 tetralogy of Fallot ISO RGD:1318791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:27908349 8790293 Flnc filamin C gene DOID:9003163 Heart Block ISO RGD:1318791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:27908349|PMID:28492532 8790293 Flnc filamin C gene DOID:9005532 Muscle Weakness ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness 8790293 Flnc filamin C gene DOID:9007 sudden infant death syndrome ISO RGD:1318791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8790293 Flnc filamin C gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 8790365 Hoxa5 homeobox A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8790365 Hoxa5 homeobox A5 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:734224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 8790365 Hoxa5 homeobox A5 gene DOID:630 genetic disease ISO RGD:734224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790365 Hoxa5 homeobox A5 gene DOID:9007364 Mouth Neoplasms ISO RGD:734224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 8790365 Hoxa5 homeobox A5 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:734224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18351244 8790371 Gabrg1 gamma-aminobutyric acid type A receptor subunit gamma1 gene DOID:10283 prostate cancer ISO RGD:732733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8790371 Gabrg1 gamma-aminobutyric acid type A receptor subunit gamma1 gene DOID:12098 trigeminal neuralgia ISO RGD:737444 D RGD:9068941 20220825 MouseDO OMIM:190400 8790371 Gabrg1 gamma-aminobutyric acid type A receptor subunit gamma1 gene DOID:630 genetic disease ISO RGD:732733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790398 Usp15 ubiquitin specific peptidase 15 gene DOID:630 genetic disease ISO RGD:733296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790398 Usp15 ubiquitin specific peptidase 15 gene DOID:8552 chronic myeloid leukemia ISO RGD:733296 D RGD:9068941 20220414 RGD mRNA, protein:decreased expression:PBMC (human) PMID:31952546|REF_RGD_ID:151667904 8790398 Usp15 ubiquitin specific peptidase 15 gene DOID:9743 diabetic neuropathy ISO RGD:733296 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35478295 8790424 Mmut methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1344450 D RGD:7240710 20180130 OMIM 8790424 Mmut methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1344450 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE | ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency | ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency PMID:10923046|PMID:11350191|PMID:11528502|PMID:12402345|PMID:1346616|PMID:1351030|PMID:15643616|PMID:15781192|PMID:15781199|PMID:16199547|PMID:16281286|PMID:16435223|PMID:16451139|PMID:16490061|PMID:1670635|PMID:17075691|PMID:17113806|PMID:17410422|PMID:17432548|PMID:17445044|PMID:17470278|PMID:17576681|PMID:17823972|PMID:17948227|PMID:17957493|PMID:17966092|PMID:19088183|PMID:19375370|PMID:1970180|PMID:1977311|PMID:19955418|PMID:20301409|PMID:20549364|PMID:20603089|PMID:21048060|PMID:21114891|PMID:21671183|PMID:22614770|PMID:22695176|PMID:22727635|PMID:23024777|PMID:23045948|PMID:23430940|PMID:23479330|PMID:23729607|PMID:24033266|PMID:24059531|PMID:24330302|PMID:24464670|PMID:2453061|PMID:24865477|PMID:25087612|PMID:25125334|PMID:25299208|PMID:25525159|PMID:25689098|PMID:25736335|PMID:25741868|PMID:25750861|PMID:25771389|PMID:25959030|PMID:26174677|PMID:26270765|PMID:26318470|PMID:26420839|PMID:26454439|PMID:26483233|PMID:2661559|PMID:26615597|PMID:26790480|PMID:27060300|PMID:27167370|PMID:27233228|PMID:27489777|PMID:27578510|PMID:27591164|PMID:27751223|PMID:27884173|PMID:28101778|PMID:28468868|PMID:28492532|PMID:28811685|PMID:2881300|PMID:29158924|PMID:29896740|PMID:30022420|PMID:30041674|PMID:30209273|PMID:30577886|PMID:30712249|PMID:30728829|PMID:31466887|PMID:31525265|PMID:31622506|PMID:31757659|PMID:31813137|PMID:32451238|PMID:32754920|PMID:33413471|PMID:34668645|PMID:35225935|PMID:35281663|PMID:36007526|PMID:7602808|PMID:7909321|PMID:7912889|PMID:7951229|PMID:8880917|PMID:8990001|PMID:9285782|PMID:9536098|PMID:9554742|PMID:9929975 8790424 Mmut methylmalonyl-CoA mutase gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency treatment ISO RGD:1558195 D RGD:9068941 20200609 RGD PMID:19861951|REF_RGD_ID:13208535 8790424 Mmut methylmalonyl-CoA mutase gene DOID:0080483 peroxisome biogenesis disorder 8A ISO RGD:1344450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) PMID:25741868|PMID:28492532 8790424 Mmut methylmalonyl-CoA mutase gene DOID:0080778 transient infantile liver failure ISO RGD:1344450 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:25125334|PMID:25741868|PMID:27167370|PMID:28492532|PMID:34668645|PMID:35281663 8790424 Mmut methylmalonyl-CoA mutase gene DOID:14749 methylmalonic acidemia ISO RGD:1344450 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:10923046|PMID:11350191|PMID:11528502|PMID:12402345|PMID:1346616|PMID:1351030|PMID:15643616|PMID:15781192|PMID:15781199|PMID:16199547|PMID:16281286|PMID:16435223|PMID:16490061|PMID:1670635|PMID:17075691|PMID:17113806|PMID:17410422|PMID:17432548|PMID:17445044|PMID:17470278|PMID:17957493|PMID:19088183|PMID:19375370|PMID:1970180|PMID:1977311|PMID:19955418|PMID:20549364|PMID:20603089|PMID:21048060|PMID:21114891|PMID:22614770|PMID:22727635|PMID:23024777|PMID:23045948|PMID:23430940|PMID:23479330|PMID:23729607|PMID:24033266|PMID:24059531|PMID:24464670|PMID:2453061|PMID:24865477|PMID:25087612|PMID:25125334|PMID:25299208|PMID:25525159|PMID:25689098|PMID:25741868|PMID:25750861|PMID:25771389|PMID:25959030|PMID:26270765|PMID:26420839|PMID:26454439|PMID:2661559|PMID:26615597|PMID:26790480|PMID:27167370|PMID:27233228|PMID:27489777|PMID:27578510|PMID:27591164|PMID:27751223|PMID:28468868|PMID:28492532|PMID:28811685|PMID:2881300|PMID:30041674|PMID:30080956|PMID:30209273|PMID:31525265|PMID:31622506|PMID:31757659|PMID:32451238|PMID:32754920|PMID:33413471|PMID:34668645|PMID:35225935|PMID:36007526|PMID:36717752|PMID:36964972|PMID:7909321|PMID:7912889|PMID:8880917|PMID:8990001|PMID:9285782|PMID:9929975 8790424 Mmut methylmalonyl-CoA mutase gene DOID:630 genetic disease ISO RGD:1344450 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8790424 Mmut methylmalonyl-CoA mutase gene DOID:655 inherited metabolic disorder ISO RGD:1344450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19427250 8790424 Mmut methylmalonyl-CoA mutase gene DOID:936 brain disease ISO RGD:1344450 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8790424 Mmut methylmalonyl-CoA mutase gene DOID:9970 obesity ISO RGD:1344450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8790446 Krt3 keratin 3 gene DOID:0080671 Meesmann corneal dystrophy 2 ISO RGD:1353879 D RGD:7240710 20200226 OMIM 8790446 Krt3 keratin 3 gene DOID:0080671 Meesmann corneal dystrophy 2 ISO RGD:1353879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Meesmann, 2 PMID:16227835|PMID:18806880|PMID:25741868|PMID:9171831 8790446 Krt3 keratin 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8790446 Krt3 keratin 3 gene DOID:630 genetic disease ISO RGD:1353879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790459 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1343569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8790459 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:1826 epilepsy ISO RGD:1343569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8790459 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1343569 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8790459 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:3021 acute kidney failure ISO RGD:1343569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 8790459 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:5844 myocardial infarction ISO RGD:1343569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20082609 8790459 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:630 genetic disease ISO RGD:1343569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790459 Tnfrsf12a TNF receptor superfamily member 12A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8790467 Crtac1 cartilage acidic protein 1 gene DOID:630 genetic disease ISO RGD:737274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790510 Srsf9 serine and arginine rich splicing factor 9 gene DOID:11054 urinary bladder cancer ISO RGD:1319864 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder epithelium (human) PMID:22178073|REF_RGD_ID:11040443 8790510 Srsf9 serine and arginine rich splicing factor 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8790510 Srsf9 serine and arginine rich splicing factor 9 gene DOID:630 genetic disease ISO RGD:1319864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790510 Srsf9 serine and arginine rich splicing factor 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1319864 D RGD:9068941 20200609 RGD PMID:20616573|REF_RGD_ID:11040805 8790519 Axl AXL receptor tyrosine kinase gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1323764 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532|PMID:32870266 8790519 Axl AXL receptor tyrosine kinase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8790519 Axl AXL receptor tyrosine kinase gene DOID:1342 congenital hypoplastic anemia ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8790519 Axl AXL receptor tyrosine kinase gene DOID:13938 amenorrhea ISO RGD:1323764 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:28492532|PMID:32870266 8790519 Axl AXL receptor tyrosine kinase gene DOID:1793 pancreatic cancer ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 8790519 Axl AXL receptor tyrosine kinase gene DOID:2340 craniosynostosis ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8790519 Axl AXL receptor tyrosine kinase gene DOID:2921 glomerulonephritis ISO RGD:620028 D RGD:9068941 20200609 RGD PMID:11290560|REF_RGD_ID:1579882 8790519 Axl AXL receptor tyrosine kinase gene DOID:3192 neurilemmoma ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25551830 8790519 Axl AXL receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22751098 8790519 Axl AXL receptor tyrosine kinase gene DOID:5151 plexiform neurofibroma ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25551830 8790519 Axl AXL receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1323764 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8790519 Axl AXL receptor tyrosine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1323764 D RGD:9068941 20200609 RGD associated Pancreatic Neoplasms PMID:19252414|REF_RGD_ID:2325833 8790519 Axl AXL receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 8790519 Axl AXL receptor tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8790519 Axl AXL receptor tyrosine kinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644472 8790519 Axl AXL receptor tyrosine kinase gene DOID:9002170 Experimental Neoplasms ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 8790519 Axl AXL receptor tyrosine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25551830 8790519 Axl AXL receptor tyrosine kinase gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8790519 Axl AXL receptor tyrosine kinase gene DOID:9002514 Neointima ISO RGD:620028 D RGD:9068941 20200609 RGD PMID:9758639|REF_RGD_ID:631894 8790519 Axl AXL receptor tyrosine kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26206560 8790519 Axl AXL receptor tyrosine kinase gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1323764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 8790519 Axl AXL receptor tyrosine kinase gene DOID:9269 maple syrup urine disease ISO RGD:1323764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8790519 Axl AXL receptor tyrosine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323764 D RGD:9068941 20200609 RGD PMID:10528229|REF_RGD_ID:2325834 8790547 Zswim7 zinc finger SWIM-type containing 7 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:32719396|PMID:33713115 8790547 Zswim7 zinc finger SWIM-type containing 7 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1606167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 8790547 Zswim7 zinc finger SWIM-type containing 7 gene DOID:5223 infertility ISO RGD:1606167 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Infertility 8790547 Zswim7 zinc finger SWIM-type containing 7 gene DOID:630 genetic disease ISO RGD:1606167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790547 Zswim7 zinc finger SWIM-type containing 7 gene DOID:9002412 Ovarian Dysgenesis 10 ISO RGD:1606167 D RGD:7240710 20220427 OMIM 8790547 Zswim7 zinc finger SWIM-type containing 7 gene DOID:9002412 Ovarian Dysgenesis 10 ISO RGD:1606167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 10 PMID:25741868|PMID:32719396|PMID:33713115|PMID:34402903 8790547 Zswim7 zinc finger SWIM-type containing 7 gene DOID:9004400 Spermatogenic Failure 71 ISO RGD:1606167 D RGD:7240710 20220427 OMIM 8790547 Zswim7 zinc finger SWIM-type containing 7 gene DOID:9004400 Spermatogenic Failure 71 ISO RGD:1606167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 71 PMID:25741868|PMID:32719396|PMID:33713115 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1317065 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:0080545 hyper IgE syndrome ISO RGD:1317065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:28492532 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1317065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS PMID:28492532 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:0081360 spastic quadriplegic cerebral palsy 2 ISO RGD:1317065 D RGD:7240710 20180130 OMIM 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:0081360 spastic quadriplegic cerebral palsy 2 ISO RGD:1317065 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1- Related Disorder | ClinVar Annotator: match by term: KANK1-related condition PMID:16301218|PMID:25741868|PMID:28492532 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:0081360 spastic quadriplegic cerebral palsy 2 ISO RGD:1317065 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1- Related Disorder | ClinVar Annotator: match by term: KANK1-related condition PMID:16301218|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:13580 cholestasis ISO RGD:1317065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1317065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:4450 renal cell carcinoma ISO RGD:1317065 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:kidney PMID:12133830|REF_RGD_ID:2315654 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:5419 schizophrenia ISO RGD:1317065 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:1317065 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28106320|PMID:28492532 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8790556 Kank1 KN motif and ankyrin repeat domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8790591 Bdh2 3-hydroxybutyrate dehydrogenase 2 gene DOID:3633 beta-mannosidosis ISO RGD:1604606 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 8790591 Bdh2 3-hydroxybutyrate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1604606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790610 Dlgap1 DLG associated protein 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:734098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8790610 Dlgap1 DLG associated protein 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:734098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 8790610 Dlgap1 DLG associated protein 1 gene DOID:1059 intellectual disability ISO RGD:734098 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8790610 Dlgap1 DLG associated protein 1 gene DOID:630 genetic disease ISO RGD:734098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12954649 8790610 Dlgap1 DLG associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8790610 Dlgap1 DLG associated protein 1 gene DOID:9008582 Developmental Disease ISO RGD:734098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8790642 Nkapl NFKB activating protein like gene DOID:11372 megacolon ISO RGD:1323244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8790642 Nkapl NFKB activating protein like gene DOID:5419 schizophrenia ISO RGD:1323244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 8790642 Nkapl NFKB activating protein like gene DOID:630 genetic disease ISO RGD:1323244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790654 Fcrl4 Fc receptor like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1603196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8790654 Fcrl4 Fc receptor like 4 gene DOID:630 genetic disease ISO RGD:1603196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790654 Fcrl4 Fc receptor like 4 gene DOID:9008386 Hydrops Fetalis ISO RGD:1603196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 8790654 Fcrl4 Fc receptor like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8790672 Grin3b glutamate ionotropic receptor NMDA type subunit 3B gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1353575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8790672 Grin3b glutamate ionotropic receptor NMDA type subunit 3B gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1353575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 8790672 Grin3b glutamate ionotropic receptor NMDA type subunit 3B gene DOID:5339 cyclic hematopoiesis ISO RGD:1353575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8790672 Grin3b glutamate ionotropic receptor NMDA type subunit 3B gene DOID:630 genetic disease ISO RGD:1353575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790672 Grin3b glutamate ionotropic receptor NMDA type subunit 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8790683 Cdx2 caudal type homeobox 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:730914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29439001 8790683 Cdx2 caudal type homeobox 2 gene DOID:0080700 caudal regression syndrome ISO RGD:730914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sirenomelia PMID:25741868 8790683 Cdx2 caudal type homeobox 2 gene DOID:630 genetic disease ISO RGD:730914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790683 Cdx2 caudal type homeobox 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730914 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35674868 8790683 Cdx2 caudal type homeobox 2 gene DOID:9000545 Ectromelia ISO RGD:730914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sirenomelia PMID:25741868 8790683 Cdx2 caudal type homeobox 2 gene DOID:9001441 Adenomatous Polyps ISO RGD:730915 D RGD:9068941 20200609 RGD PMID:9052785|REF_RGD_ID:734757 8790683 Cdx2 caudal type homeobox 2 gene DOID:9001471 Anorectal Malformations ISO RGD:730914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anorectal malformation PMID:25741868 8790683 Cdx2 caudal type homeobox 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29439001 8790683 Cdx2 caudal type homeobox 2 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:730914 D RGD:9068941 20200609 RGD PMID:23011828|REF_RGD_ID:7349348 8790700 LOC102016906 chromosome unknown open reading frame, human C19orf33 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354281 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:35142956 8790700 LOC102016906 chromosome unknown open reading frame, human C19orf33 gene DOID:630 genetic disease ISO RGD:1354281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790700 LOC102016906 chromosome unknown open reading frame, human C19orf33 gene DOID:9000918 Disease Progression ISO RGD:1354281 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35142956 8790708 Frs3 fibroblast growth factor receptor substrate 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1321005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8790708 Frs3 fibroblast growth factor receptor substrate 3 gene DOID:630 genetic disease ISO RGD:1321005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790708 Frs3 fibroblast growth factor receptor substrate 3 gene DOID:905 Zellweger syndrome ISO RGD:1321005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8790725 Tent5d terminal nucleotidyltransferase 5D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8790725 Tent5d terminal nucleotidyltransferase 5D gene DOID:12849 autistic disorder ISO RGD:1348599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8790725 Tent5d terminal nucleotidyltransferase 5D gene DOID:630 genetic disease ISO RGD:1348599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790754 Cda cytidine deaminase gene DOID:0060369 Parkinson's disease 6 ISO RGD:1322377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8790754 Cda cytidine deaminase gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1322377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8790754 Cda cytidine deaminase gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1322377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8790754 Cda cytidine deaminase gene DOID:10534 stomach cancer ISO RGD:1322377 D RGD:9068941 20220616 RGD protein:increased expression:stomach: PMID:8076377|REF_RGD_ID:152995290 8790754 Cda cytidine deaminase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322377 D RGD:9068941 20200609 RGD DNA:snp:cds:p.K27Q (human) PMID:18347182|REF_RGD_ID:2316365 8790754 Cda cytidine deaminase gene DOID:630 genetic disease ISO RGD:1322377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790754 Cda cytidine deaminase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8790754 Cda cytidine deaminase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1322377 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs1048977|rs12726436|rs2072671 (human) PMID:28347776|REF_RGD_ID:152995291 8790754 Cda cytidine deaminase gene DOID:9008939 Breast Neoplasms ISO RGD:1322377 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10811482|PMID:25330770 8790765 Exosc4 exosome component 4 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1322197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8790765 Exosc4 exosome component 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1322197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8790765 Exosc4 exosome component 4 gene DOID:4621 holoprosencephaly ISO RGD:1322197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8790765 Exosc4 exosome component 4 gene DOID:630 genetic disease ISO RGD:1322197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790776 Grsf1 G-rich RNA sequence binding factor 1 gene DOID:630 genetic disease ISO RGD:1322002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790792 Mxd4 MAX dimerization protein 4 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1312919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8790792 Mxd4 MAX dimerization protein 4 gene DOID:1856 cherubism ISO RGD:1312919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8790792 Mxd4 MAX dimerization protein 4 gene DOID:630 genetic disease ISO RGD:1312919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790802 Abca6 ATP binding cassette subfamily A member 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1319094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8790802 Abca6 ATP binding cassette subfamily A member 6 gene DOID:630 genetic disease ISO RGD:1319094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790802 Abca6 ATP binding cassette subfamily A member 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8790851 CDH13 cadherin 13 gene DOID:2394 ovarian cancer ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:deletion, hypermethylation PMID:10493953|REF_RGD_ID:2298987 8790851 Cdh13 cadherin 13 gene DOID:10283 prostate cancer disease_progression ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18387661|REF_RGD_ID:2293539 8790851 Cdh13 cadherin 13 gene DOID:11054 urinary bladder cancer ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18094410|REF_RGD_ID:2293014 8790851 Cdh13 cadherin 13 gene DOID:1612 breast cancer ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17764565|REF_RGD_ID:2293542 8790851 Cdh13 cadherin 13 gene DOID:1612 breast cancer ISO RGD:734374 D RGD:9068941 20200609 RGD protein:decreased expression:breast duct: PMID:8673923|REF_RGD_ID:734735 8790851 Cdh13 cadherin 13 gene DOID:2349 arteriosclerosis ISO RGD:734374 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:11326751|REF_RGD_ID:2293555 8790851 Cdh13 cadherin 13 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypomethylation PMID:18519763|REF_RGD_ID:2298985 8790851 Cdh13 cadherin 13 gene DOID:303 substance-related disorder ISO RGD:619745 D RGD:9068941 20200820 RGD PMID:28387990|REF_RGD_ID:13503340 8790851 Cdh13 cadherin 13 gene DOID:303 substance-related disorder ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8790851 Cdh13 cadherin 13 gene DOID:3459 breast carcinoma ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11389090|REF_RGD_ID:2293545 8790851 Cdh13 cadherin 13 gene DOID:3908 lung non-small cell carcinoma ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 8790851 Cdh13 cadherin 13 gene DOID:3908 lung non-small cell carcinoma ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11389090|REF_RGD_ID:2293545 8790851 Cdh13 cadherin 13 gene DOID:4247 coronary restenosis ISO RGD:619745 D RGD:9068941 20200609 RGD protein:increased expression:artery, smooth muscle cell PMID:12376824|REF_RGD_ID:2293553 8790851 Cdh13 cadherin 13 gene DOID:4362 cervical cancer ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17548682|REF_RGD_ID:2293543 8790851 Cdh13 cadherin 13 gene DOID:630 genetic disease ISO RGD:734374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790851 Cdh13 cadherin 13 gene DOID:670 amphetamine abuse ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8790851 Cdh13 cadherin 13 gene DOID:684 hepatocellular carcinoma ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18425332|PMID:18553387|PMID:28284560 8790851 Cdh13 cadherin 13 gene DOID:9000117 Esophageal Neoplasms ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18729198 8790851 Cdh13 cadherin 13 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:734374 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17029216|REF_RGD_ID:2293544 8790851 Cdh13 cadherin 13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17288544|PMID:18264096 8790851 Cdh13 cadherin 13 gene DOID:9005172 Lung Neoplasms ISO RGD:619745 D RGD:9068941 20200609 RGD associated with Inflammation;DNA:hypermethylation:promoter PMID:17971904|REF_RGD_ID:2293546 8790851 Cdh13 cadherin 13 gene DOID:9005172 Lung Neoplasms ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 8790851 Cdh13 cadherin 13 gene DOID:9005172 Lung Neoplasms ISO RGD:734374 D RGD:9068941 20200609 RGD PMID:9737784|REF_RGD_ID:734736 8790851 Cdh13 cadherin 13 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:734375 D RGD:9068941 20200609 RGD PMID:18316604|REF_RGD_ID:2293540 8790851 Cdh13 cadherin 13 gene DOID:9206 Barrett's esophagus ISO RGD:734374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18729198 8790886 Setx senataxin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347866 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868 8790886 Setx senataxin gene DOID:0050753 cerebellar ataxia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065|PMID:26467025 8790886 Setx senataxin gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia PMID:32488064 8790886 Setx senataxin gene DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 ISO RGD:1347866 D RGD:7240710 20180130 OMIM 8790886 Setx senataxin gene DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 ISO RGD:1347866 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SETX-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 PMID:14770181|PMID:15106121|PMID:15732101|PMID:16644229|PMID:17096168|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:18414213|PMID:18625865|PMID:19377860|PMID:19569000|PMID:19696032|PMID:19744353|PMID:20540686|PMID:20981092|PMID:21190393|PMID:21438761|PMID:21576111|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23566282|PMID:23757202|PMID:23806086|PMID:23881933|PMID:23941260|PMID:24033266|PMID:24088041|PMID:24105744|PMID:24244371|PMID:24760770|PMID:24814856|PMID:25025039|PMID:25116135|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25326635|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:26257172|PMID:26467025|PMID:26601740|PMID:26633545|PMID:27013921|PMID:27165006|PMID:27790088|PMID:28130640|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29482223|PMID:29650794|PMID:30198223|PMID:30564185|PMID:30778698|PMID:31325016|PMID:31429931|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32253937|PMID:32397312|PMID:32409511|PMID:32729724|PMID:33098801|PMID:33956305|PMID:9467005|PMID:9497266|PMID:9536098 8790886 Setx senataxin gene DOID:0050952 spastic ataxia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532|PMID:28708278 8790886 Setx senataxin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:23757202|PMID:25741868|PMID:28492532 8790886 Setx senataxin gene DOID:0060196 juvenile amyotrophic lateral sclerosis 4 ISO RGD:1347866 D RGD:7240710 20180130 OMIM 8790886 Setx senataxin gene DOID:0060196 juvenile amyotrophic lateral sclerosis 4 ISO RGD:1347866 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4 PMID:14770181|PMID:15106121|PMID:16199547|PMID:16644229|PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:19727998|PMID:19744353|PMID:20540686|PMID:20981092|PMID:21190393|PMID:21438761|PMID:21494555|PMID:21576111|PMID:22088787|PMID:22995991|PMID:23111195|PMID:23129421|PMID:23566282|PMID:23757202|PMID:23881933|PMID:23941260|PMID:24030952|PMID:24033266|PMID:24105744|PMID:24108619|PMID:24244371|PMID:24760770|PMID:24814856|PMID:25025039|PMID:25116135|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25353622|PMID:25382069|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25927548|PMID:26467025|PMID:26601740|PMID:26752306|PMID:27013921|PMID:27165006|PMID:27422356|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29650794|PMID:30220148|PMID:30564185|PMID:30642639|PMID:30778698|PMID:31325016|PMID:31429931|PMID:31432357|PMID:31656689|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32186211|PMID:32253937|PMID:32397312|PMID:32409511|PMID:32729724|PMID:33098801|PMID:33770234|PMID:33956305|PMID:34565360|PMID:35426160|PMID:9467005|PMID:9497266|PMID:9536098 8790886 Setx senataxin gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8790886 Setx senataxin gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347866 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8790886 Setx senataxin gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8790886 Setx senataxin gene DOID:0081097 Rafiq syndrome ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8790886 Setx senataxin gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant PMID:19696032|PMID:22088787|PMID:25741868|PMID:26467025|PMID:28492532 8790886 Setx senataxin gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:24533459 8790886 Setx senataxin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15732101|PMID:16717225|PMID:19696032|PMID:25025039|PMID:25741868|PMID:25802885|PMID:26467025|PMID:28492532 8790886 Setx senataxin gene DOID:12377 spinal muscular atrophy ISO RGD:1347866 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy PMID:15106121|PMID:21438761|PMID:21494555|PMID:21576111|PMID:22088787|PMID:24105744|PMID:24244371|PMID:25741868|PMID:28492532|PMID:9467005|PMID:9497266 8790886 Setx senataxin gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8790886 Setx senataxin gene DOID:1969 cerebral palsy ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:18414213|PMID:24088041|PMID:25741868|PMID:26633545 8790886 Setx senataxin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:20981092|PMID:21190393|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23881933|PMID:23941260|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:31957062|PMID:32253937|PMID:9536098 8790886 Setx senataxin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347866 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17096168|PMID:17159128|PMID:17576681|PMID:18058631|PMID:19569000|PMID:19696032|PMID:20981092|PMID:21190393|PMID:22088787|PMID:22995991|PMID:23129421|PMID:23881933|PMID:23941260|PMID:25174650|PMID:25382069|PMID:25741868|PMID:26467025|PMID:27013921|PMID:27165006|PMID:27790088|PMID:28130640|PMID:28492532|PMID:28642336|PMID:28832565|PMID:29411640|PMID:29650794|PMID:31957062|PMID:32253937|PMID:32397312|PMID:33770234|PMID:9536098 8790886 Setx senataxin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:18058631|PMID:23129421|PMID:23881933|PMID:25741868|PMID:26467025|PMID:27790088|PMID:28492532|PMID:28832565|PMID:32253937 8790886 Setx senataxin gene DOID:3320 Tay-Sachs disease ISO RGD:1347866 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:25741868|PMID:28492532 8790886 Setx senataxin gene DOID:3652 Leigh disease ISO RGD:1347866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8790886 Setx senataxin gene DOID:543 dystonia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:28492532 8790886 Setx senataxin gene DOID:607 paraplegia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17159128|PMID:19569000|PMID:20981092|PMID:23941260|PMID:25741868|PMID:26467025|PMID:28492532 8790886 Setx senataxin gene DOID:630 genetic disease ISO RGD:1347866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:14770181|PMID:15732101|PMID:16644229|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:19569000|PMID:23129421|PMID:23881933|PMID:25025039|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25353622|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752306|PMID:27013921|PMID:27790088|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29650794|PMID:30220148|PMID:30564185|PMID:31069529|PMID:31429931|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32186211|PMID:32253937|PMID:32397312|PMID:9536098 8790886 Setx senataxin gene DOID:630 genetic disease ISO RGD:1347866 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14770181|PMID:15732101|PMID:16644229|PMID:17159128|PMID:17576681|PMID:17720498|PMID:18058631|PMID:19569000|PMID:21190393|PMID:21438761|PMID:23129421|PMID:23881933|PMID:25025039|PMID:25174650|PMID:25182519|PMID:25299611|PMID:25353622|PMID:25382069|PMID:25525159|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752306|PMID:27013921|PMID:27165006|PMID:27790088|PMID:28245518|PMID:28492532|PMID:28642336|PMID:28708278|PMID:28832565|PMID:29170628|PMID:29411640|PMID:29650794|PMID:30220148|PMID:30564185|PMID:31069529|PMID:31429931|PMID:31589614|PMID:31692161|PMID:31957062|PMID:32028661|PMID:32166880|PMID:32186211|PMID:32253937|PMID:32397312|PMID:32409511|PMID:33770234|PMID:35896380|PMID:9536098 8790886 Setx senataxin gene DOID:9255 frontotemporal dementia ISO RGD:1347866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:26467025|PMID:28492532 8790923 Cage1 cancer antigen 1 gene DOID:630 genetic disease ISO RGD:1604175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790947 Mfsd2b MFSD2 lysolipid transporter B, sphingolipid gene DOID:630 genetic disease ISO RGD:3476989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1353727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1353727 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:1826 epilepsy ISO RGD:1353727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:3652 Leigh disease ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:630 genetic disease ISO RGD:1353727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8790966 Npdc1 neural proliferation, differentiation and control 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8790990 Thap2 THAP domain containing 2 gene DOID:630 genetic disease ISO RGD:1349583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791005 LOC102005030 olfactory receptor 226 gene DOID:630 genetic disease ISO RGD:1605112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791010 Axin2 axin 2 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1349667 D RGD:9068941 20220210 RGD protein:increased expression:mucosa: PMID:11809809|REF_RGD_ID:151356508 8791010 Axin2 axin 2 gene DOID:0050567 orofacial cleft ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP:cds:rs2240308(p.P50S)(human) PMID:19119171|REF_RGD_ID:151356509 8791010 Axin2 axin 2 gene DOID:0050591 tooth agenesis ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:15042511|PMID:21416598|PMID:21626677|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:28492532|PMID:28944238|PMID:29371908|PMID:30374176 8791010 Axin2 axin 2 gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:1349667 D RGD:9068941 20220210 RGD PMID:33046030|REF_RGD_ID:151356656 8791010 Axin2 axin 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1349667 D RGD:9068941 20220210 RGD PMID:33046030|REF_RGD_ID:151356656 8791010 Axin2 axin 2 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1349667 D RGD:9068941 20211217 RGD DNA:SNP:intron: C>T (rs3923087)(human) PMID:21393552|REF_RGD_ID:150530486 8791010 Axin2 axin 2 gene DOID:0050912 colon adenoma ISO RGD:1349667 D RGD:9068941 20220210 RGD protein:increased expression:: PMID:11809809|REF_RGD_ID:151356508 8791010 Axin2 axin 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1349667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal carcinoma PMID:15042511|PMID:16199547|PMID:21416598|PMID:25741868|PMID:28492532 8791010 Axin2 axin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hirschsprung disease PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:27696107|PMID:28492532|PMID:29641532 8791010 Axin2 axin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8791010 Axin2 axin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:69259 D RGD:9068941 20220217 RGD protein:decreased expression:lung PMID:33092439|REF_RGD_ID:151356921 8791010 Axin2 axin 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP:exon:148T>C(rs2240308)(human) PMID:25091576|REF_RGD_ID:151356659 8791010 Axin2 axin 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNPs:exons,introns: PMID:28378643|REF_RGD_ID:151356504 8791010 Axin2 axin 2 gene DOID:13714 anodontia ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic oligodontia PMID:26406231 8791010 Axin2 axin 2 gene DOID:14330 Parkinson's disease ameliorates ISO RGD:69259 D RGD:9068941 20220217 RGD PMID:31078578|REF_RGD_ID:151356747 8791010 Axin2 axin 2 gene DOID:1520 colon carcinoma ISO RGD:1349667 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:11017067|PMID:15042511|PMID:21416598|PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29641532 8791010 Axin2 axin 2 gene DOID:1612 breast cancer ISO RGD:1349667 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:21541676|PMID:25236910|PMID:26467025|PMID:28492532|PMID:29114927|PMID:29641532|PMID:33558524 8791010 Axin2 axin 2 gene DOID:1612 breast cancer ISO RGD:1349667 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:21541676|PMID:25236910|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29114927|PMID:29641532|PMID:33558524 8791010 Axin2 axin 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:69259 D RGD:9068941 20220217 RGD PMID:31650542|REF_RGD_ID:151356749 8791010 Axin2 axin 2 gene DOID:2340 craniosynostosis ISO RGD:1349667 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:28492532 8791010 Axin2 axin 2 gene DOID:2394 ovarian cancer ISO RGD:1349667 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:29641532|PMID:30262796 8791010 Axin2 axin 2 gene DOID:2870 endometrial adenocarcinoma ISO RGD:733705 D RGD:9068941 20200609 RGD PMID:11940574|REF_RGD_ID:13432156 8791010 Axin2 axin 2 gene DOID:3121 gallbladder cancer disease_progression ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP::s4791171(human) PMID:26715268|REF_RGD_ID:151356500 8791010 Axin2 axin 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1349667 D RGD:9068941 20220211 RGD DNA:SNPs::1712 +19 G>A,148 C>T(human) PMID:30346805|REF_RGD_ID:151356655 8791010 Axin2 axin 2 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP:cds:p.P50S(human) PMID:16820935|REF_RGD_ID:151356657 8791010 Axin2 axin 2 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1349667 D RGD:9068941 20220211 RGD DNA:SNP::1386 C>T(human) PMID:30346805|REF_RGD_ID:151356655 8791010 Axin2 axin 2 gene DOID:630 genetic disease ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8791010 Axin2 axin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1349667 D RGD:9068941 20220210 RGD protein:increased expression:liver: PMID:11809809|REF_RGD_ID:151356508 8791010 Axin2 axin 2 gene DOID:687 hepatoblastoma ISO RGD:1349667 D RGD:9068941 20220210 RGD protein:increased expression:liver: PMID:11809809|REF_RGD_ID:151356508 8791010 Axin2 axin 2 gene DOID:9000156 Metaplasia ISO RGD:735540 D RGD:9068941 20200609 RGD associated with Granulosa Cell Tumor;mRNA:increased expression:ovary PMID:16488995|REF_RGD_ID:1643593 8791010 Axin2 axin 2 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:69259 D RGD:9068941 20220217 RGD PMID:21935365|REF_RGD_ID:9685370 8791010 Axin2 axin 2 gene DOID:9001642 Intestinal Polyps ISO RGD:735540 D RGD:9068941 20220210 RGD protein:increased expression:small intestinal polyps: PMID:11809809|REF_RGD_ID:151356508 8791010 Axin2 axin 2 gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates ISO RGD:69259 D RGD:9068941 20220217 RGD PMID:28694128|REF_RGD_ID:151356920 8791010 Axin2 axin 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 8791010 Axin2 axin 2 gene DOID:9006205 Animal Disease Models ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8791010 Axin2 axin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11017067|PMID:12101426|PMID:15042511|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:9536098 8791010 Axin2 axin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349667 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34196900|PMID:34817745|PMID:35014770|PMID:35904628|PMID:36071541|PMID:36502525|PMID:36672847|PMID:9536098 8791010 Axin2 axin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8791010 Axin2 axin 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:1349667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8791010 Axin2 axin 2 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1349667 D RGD:7240710 20180130 OMIM 8791010 Axin2 axin 2 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1349667 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME PMID:10330403|PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23169527|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27234654|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:35014770|PMID:35904628|PMID:36071541|PMID:36672847|PMID:9536098 8791010 Axin2 axin 2 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1349667 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME PMID:10330403|PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23169527|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27234654|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34196900|PMID:34817745|PMID:35014770|PMID:35904628|PMID:36071541|PMID:36502525|PMID:36672847|PMID:9536098 8791010 Axin2 axin 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532 8791010 Axin2 axin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349667 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8791010 Axin2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:7240710 20200226 OMIM 8791010 Axin2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27696107|PMID:28492532|PMID:29371908|PMID:29641532 8791010 Axin2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15042511|PMID:21416598|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33558524|PMID:33725141|PMID:34817745 8791010 Axin2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12101426|PMID:15042511|PMID:16941501|PMID:17373666|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28717660|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33193653|PMID:33558524|PMID:33725141|PMID:34817745 8791010 Axin2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12101426|PMID:15042511|PMID:16941501|PMID:17373666|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33193653 8791010 Axin2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27009842|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29371908|PMID:29625052|PMID:29641532|PMID:30322717|PMID:30374176|PMID:30822429|PMID:31721781|PMID:31819260|PMID:32984025|PMID:33193653|PMID:9536098 8791010 Axin2 axin 2 gene DOID:9256 colorectal cancer ISO RGD:1349667 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27009842|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29371908|PMID:29625052|PMID:29641532|PMID:30322717|PMID:30374176|PMID:30822429|PMID:31721781|PMID:31819260|PMID:32984025|PMID:33193653|PMID:34196900|PMID:34817745|PMID:36502525|PMID:9536098 8791010 Axin2 axin 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1349667 D RGD:9068941 20220210 RGD DNA:SNP::rs2240308, c.148G>A(human) PMID:31632692|REF_RGD_ID:151356510 8791010 Axin2 axin 2 gene DOID:9256 colorectal cancer treatment ISO RGD:1349667 D RGD:9068941 20220210 RGD PMID:29534875|REF_RGD_ID:151356662 8791010 Axin2 axin 2 gene DOID:9655 oral mucosa leukoplakia disease_progression ISO RGD:1349667 D RGD:9068941 20220210 RGD PMID:28939076|REF_RGD_ID:151356661 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:0050884 triosephosphate isomerase deficiency ISO RGD:737023 D RGD:7240710 20180130 OMIM 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:0050884 triosephosphate isomerase deficiency ISO RGD:737023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Triosephosphate isomerase deficiency PMID:10209987|PMID:10910933|PMID:11196750|PMID:11698297|PMID:17183658|PMID:17576681|PMID:18562316|PMID:20374271|PMID:24033266|PMID:24056040|PMID:24192681|PMID:24840153|PMID:25741868|PMID:26863999|PMID:27717089|PMID:28492532|PMID:2876430|PMID:32873690|PMID:7485100|PMID:7628118|PMID:8244340|PMID:8503454|PMID:8571957|PMID:8579052|PMID:9338582|PMID:9536098|PMID:9842650 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:737023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:0080600 COVID-19 ISO RGD:737023 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:0111621 Temtamy syndrome ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:10652 Alzheimer's disease ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:11476 osteoporosis ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8503454 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:737023 D RGD:9068941 20200609 RGD triosephosphate isomerase deficiency PMID:9338582|REF_RGD_ID:1599584 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:440 neuromuscular disease ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8503454 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:583 hemolytic anemia ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2876430 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:630 genetic disease ISO RGD:737023 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:655 inherited metabolic disorder ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2876430|PMID:8503454 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2876430|PMID:8503454 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3896 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:17465459|REF_RGD_ID:5147874 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:9006205 Animal Disease Models ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:737023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8791026 Tpi1 triosephosphate isomerase 1 gene DOID:9282 ocular hypertension ISO RGD:3896 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18626730|REF_RGD_ID:2303613 8791056 Pbk PDZ binding kinase gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1351038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8791056 Pbk PDZ binding kinase gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1351038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8791056 Pbk PDZ binding kinase gene DOID:11612 polycystic ovary syndrome ISO RGD:1351038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8791056 Pbk PDZ binding kinase gene DOID:630 genetic disease ISO RGD:1351038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791056 Pbk PDZ binding kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1351038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8791067 Slc7a6os solute carrier family 7 member 6 opposite strand gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8791067 Slc7a6os solute carrier family 7 member 6 opposite strand gene DOID:630 genetic disease ISO RGD:1602091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791067 Slc7a6os solute carrier family 7 member 6 opposite strand gene DOID:9003808 Progressive Myoclonus Epilepsy 12 ISO RGD:1602091 D RGD:7240710 20210303 OMIM 8791067 Slc7a6os solute carrier family 7 member 6 opposite strand gene DOID:9003808 Progressive Myoclonus Epilepsy 12 ISO RGD:1602091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 PMID:25741868|PMID:33085104 8791067 Slc7a6os solute carrier family 7 member 6 opposite strand gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1602091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:33085104 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:0080033 craniometaphyseal dysplasia ISO RGD:734406 D RGD:9068941 20220825 MouseDO OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:734405 D RGD:7240710 20180130 OMIM 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant PMID:11326272|PMID:11326338|PMID:19449425|PMID:20358596|PMID:25741868|PMID:26467025|PMID:2712793|PMID:28492532 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:1059 intellectual disability ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:1156 chondrocalcinosis ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:11832 visual epilepsy ISO RGD:619925 D RGD:9068941 20200609 RGD PMID:12861042|REF_RGD_ID:634632 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:227 ankylosis ISO RGD:734406 D RGD:9068941 20240307 CTD CTD Direct Evidence: marker/mechanism PMID:32188494 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:289 endometriosis ISO RGD:734405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:630 genetic disease ISO RGD:734405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:848 arthritis ISO RGD:734406 D RGD:9068941 20200609 RGD PMID:10894769|REF_RGD_ID:734569 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:9006590 Chondrocalcinosis 2 ISO RGD:734405 D RGD:7240710 20180130 OMIM 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:9006590 Chondrocalcinosis 2 ISO RGD:734405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 2 PMID:11326272|PMID:12297987|PMID:12297989|PMID:13130483|PMID:19449425|PMID:25741868|PMID:26467025|PMID:2712793|PMID:28492532|PMID:32860008|PMID:8528213|PMID:9915952 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18027777 8791076 Ankh ANKH inorganic pyrophosphate transport regulator gene DOID:9009007 Tooth Abnormalities ISO RGD:734405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18027777 8791098 Exosc10 exosome component 10 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8791098 Exosc10 exosome component 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349336 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8791098 Exosc10 exosome component 10 gene DOID:0111936 immunodeficiency 14 ISO RGD:1349336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8791098 Exosc10 exosome component 10 gene DOID:630 genetic disease ISO RGD:1349336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791098 Exosc10 exosome component 10 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1349336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8791133 Lrrtm1 leucine rich repeat transmembrane neuronal 1 gene DOID:5419 schizophrenia ISO RGD:1622254 D RGD:9068941 20220825 MouseDO OMIM:181500 8791133 Lrrtm1 leucine rich repeat transmembrane neuronal 1 gene DOID:630 genetic disease ISO RGD:1351021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791133 Lrrtm1 leucine rich repeat transmembrane neuronal 1 gene DOID:9001005 Complex Cortical Dysplasia with Other Brain Malformations 9 ISO RGD:1351021 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9 8791147 Prkch protein kinase C eta gene DOID:303 substance-related disorder ISO RGD:735345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8791147 Prkch protein kinase C eta gene DOID:3526 cerebral infarction ISO RGD:735345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral infarction, susceptibility to | ClinVar Annotator: match by term: Ischemic stroke PMID:12958323|PMID:17206144|PMID:25741868 8791147 Prkch protein kinase C eta gene DOID:3526 cerebral infarction susceptibility ISO RGD:735345 D RGD:7240710 20230505 OMIM 8791147 Prkch protein kinase C eta gene DOID:630 genetic disease ISO RGD:735345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791147 Prkch protein kinase C eta gene DOID:9970 obesity ISO RGD:735345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23563609 8791165 LOC102013125 olfactory receptor 12D3 gene DOID:11372 megacolon ISO RGD:1352207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8791165 LOC102013125 olfactory receptor 12D3 gene DOID:630 genetic disease ISO RGD:1352207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791169 Scel sciellin gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8791169 Scel sciellin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312935 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 8791169 Scel sciellin gene DOID:630 genetic disease ISO RGD:1312935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791210 LOC102016571 cytochrome P450 2W1 gene DOID:630 genetic disease ISO RGD:1313076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791222 Cop1 COP1 E3 ubiquitin ligase gene DOID:12849 autistic disorder ISO RGD:1346229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404257 8791222 Cop1 COP1 E3 ubiquitin ligase gene DOID:1540 parathyroid carcinoma ISO RGD:1346229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8791222 Cop1 COP1 E3 ubiquitin ligase gene DOID:3755 antithrombin III deficiency ISO RGD:1346229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8791222 Cop1 COP1 E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1346229 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791222 Cop1 COP1 E3 ubiquitin ligase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8791222 Cop1 COP1 E3 ubiquitin ligase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8791245 Dll1 delta like canonical Notch ligand 1 gene DOID:10283 prostate cancer ISO RGD:733842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8791245 Dll1 delta like canonical Notch ligand 1 gene DOID:13375 temporal arteritis ISO RGD:733842 D RGD:9068941 20200609 RGD mRNA:increased expression:temporal artery PMID:21220737|REF_RGD_ID:6482238 8791245 Dll1 delta like canonical Notch ligand 1 gene DOID:4621 holoprosencephaly ISO RGD:733842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alobar holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8791245 Dll1 delta like canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:733842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31353024 8791245 Dll1 delta like canonical Notch ligand 1 gene DOID:9001694 NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES ISO RGD:733842 D RGD:7240710 20200115 OMIM 8791245 Dll1 delta like canonical Notch ligand 1 gene DOID:9001694 NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES ISO RGD:733842 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DLL1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures PMID:16718694|PMID:17576681|PMID:21714819|PMID:25741868|PMID:28492532|PMID:31353024|PMID:34519870|PMID:9536098 8791245 Dll1 delta like canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733843 D RGD:9068941 20200609 RGD PMID:17947672|REF_RGD_ID:6482235 8791245 Dll1 delta like canonical Notch ligand 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:733842 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:pancreas PMID:17114010|REF_RGD_ID:6482236 8791245 Dll1 delta like canonical Notch ligand 1 gene DOID:9007502 Brain Neoplasms ISO RGD:733842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8791245 Dll1 delta like canonical Notch ligand 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 8791260 Gtdc1 glycosyltransferase like domain containing 1 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1354274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:12920073 8791260 Gtdc1 glycosyltransferase like domain containing 1 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1354274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 8791260 Gtdc1 glycosyltransferase like domain containing 1 gene DOID:2661 myoepithelioma ISO RGD:1354274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8791260 Gtdc1 glycosyltransferase like domain containing 1 gene DOID:630 genetic disease ISO RGD:1354274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791291 Ubxn10 UBX domain protein 10 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1318044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8791291 Ubxn10 UBX domain protein 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8791291 Ubxn10 UBX domain protein 10 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1318044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8791291 Ubxn10 UBX domain protein 10 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1318044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8791291 Ubxn10 UBX domain protein 10 gene DOID:630 genetic disease ISO RGD:1318044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791291 Ubxn10 UBX domain protein 10 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1318044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8791297 Sdsl serine dehydratase like gene DOID:630 genetic disease ISO RGD:1319395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791335 Trap1 TNF receptor associated protein 1 gene DOID:0080205 CAKUT ISO RGD:1346837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28492532|PMID:30143558 8791335 Trap1 TNF receptor associated protein 1 gene DOID:0080206 CAKUT1 ISO RGD:1346837 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 PMID:24152966|PMID:28710113|PMID:35765067 8791335 Trap1 TNF receptor associated protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8791335 Trap1 TNF receptor associated protein 1 gene DOID:14679 VACTERL association ISO RGD:1346837 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VACTERL association PMID:25741868 8791335 Trap1 TNF receptor associated protein 1 gene DOID:1826 epilepsy ISO RGD:1346837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8791335 Trap1 TNF receptor associated protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346837 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8791335 Trap1 TNF receptor associated protein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1346837 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:21932317|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25741868|PMID:25805166|PMID:27257017|PMID:28492532|PMID:31566936|PMID:32170002|PMID:32594341|PMID:32827181 8791335 Trap1 TNF receptor associated protein 1 gene DOID:3459 breast carcinoma ISO RGD:1346837 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HER2 positive breast carcinoma PMID:25741868|PMID:28492532 8791335 Trap1 TNF receptor associated protein 1 gene DOID:4455 hereditary renal cell carcinoma ISO RGD:1346837 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma PMID:28492532 8791335 Trap1 TNF receptor associated protein 1 gene DOID:630 genetic disease ISO RGD:1346837 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8791335 Trap1 TNF receptor associated protein 1 gene DOID:8398 osteoarthritis ISO RGD:1346837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8791335 Trap1 TNF receptor associated protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1346837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8791335 Trap1 TNF receptor associated protein 1 gene DOID:9000918 Disease Progression ISO RGD:1346837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8791365 Trim14 tripartite motif containing 14 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8791365 Trim14 tripartite motif containing 14 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8791365 Trim14 tripartite motif containing 14 gene DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ISO RGD:1323013 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type PMID:15726110|PMID:25741868|PMID:27213289|PMID:28492532|PMID:34163424 8791365 Trim14 tripartite motif containing 14 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8791365 Trim14 tripartite motif containing 14 gene DOID:1059 intellectual disability ISO RGD:1323013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8791365 Trim14 tripartite motif containing 14 gene DOID:12712 nephronophthisis ISO RGD:1323013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8791365 Trim14 tripartite motif containing 14 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8791365 Trim14 tripartite motif containing 14 gene DOID:630 genetic disease ISO RGD:1323013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8791365 Trim14 tripartite motif containing 14 gene DOID:9001793 Generalized Epilepsy ISO RGD:1323013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8791377 Magt1 magnesium transporter 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8791377 Magt1 magnesium transporter 1 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:731507 D RGD:7240710 20180130 OMIM 8791377 Magt1 magnesium transporter 1 gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:731507 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:16199547|PMID:17576681|PMID:21796205|PMID:24550228|PMID:25135935|PMID:25504528|PMID:25741868|PMID:25956530|PMID:26422833|PMID:27770395|PMID:28353193|PMID:28492532|PMID:31036665|PMID:31993868|PMID:32499645|PMID:32581362|PMID:33831577|PMID:9536098 8791377 Magt1 magnesium transporter 1 gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:731507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 8791377 Magt1 magnesium transporter 1 gene DOID:0111839 congenital disorder of glycosylation Icc ISO RGD:731507 D RGD:7240710 20190911 OMIM 8791377 Magt1 magnesium transporter 1 gene DOID:0111839 congenital disorder of glycosylation Icc ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC PMID:24550228|PMID:25135935|PMID:25741868|PMID:28492532|PMID:31036665 8791377 Magt1 magnesium transporter 1 gene DOID:12849 autistic disorder ISO RGD:731507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8791377 Magt1 magnesium transporter 1 gene DOID:1838 Menkes disease ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 8791377 Magt1 magnesium transporter 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:731507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:24550228|PMID:25135935|PMID:25741868|PMID:28492532|PMID:31036665 8791377 Magt1 magnesium transporter 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:9536098 8791377 Magt1 magnesium transporter 1 gene DOID:630 genetic disease ISO RGD:731507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8791391 Spint2 serine peptidase inhibitor, Kunitz type 2 gene DOID:0060781 congenital secretory sodium diarrhea 3 ISO RGD:1351424 D RGD:7240710 20180130 OMIM 8791391 Spint2 serine peptidase inhibitor, Kunitz type 2 gene DOID:0060781 congenital secretory sodium diarrhea 3 ISO RGD:1351424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 3 PMID:11113072|PMID:17576681|PMID:17786112|PMID:19185281|PMID:20009592|PMID:23689399|PMID:24142340|PMID:25741868|PMID:28492532|PMID:30445423|PMID:9536098 8791391 Spint2 serine peptidase inhibitor, Kunitz type 2 gene DOID:0080074 neural tube defect ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722141 8791391 Spint2 serine peptidase inhibitor, Kunitz type 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1552601 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 8791391 Spint2 serine peptidase inhibitor, Kunitz type 2 gene DOID:13580 cholestasis ISO RGD:1552601 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 8791391 Spint2 serine peptidase inhibitor, Kunitz type 2 gene DOID:13608 biliary atresia ISO RGD:1351424 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:21898507|REF_RGD_ID:10043111 8791391 Spint2 serine peptidase inhibitor, Kunitz type 2 gene DOID:305 carcinoma ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8791391 Spint2 serine peptidase inhibitor, Kunitz type 2 gene DOID:630 genetic disease ISO RGD:1351424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8791391 Spint2 serine peptidase inhibitor, Kunitz type 2 gene DOID:780 placenta disease ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722141 8791391 Spint2 serine peptidase inhibitor, Kunitz type 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8791391 Spint2 serine peptidase inhibitor, Kunitz type 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8791391 Spint2 serine peptidase inhibitor, Kunitz type 2 gene DOID:9007023 Prenatal Injuries ISO RGD:1351424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722141 8791405 Ap1s3 adaptor related protein complex 1 subunit sigma 3 gene DOID:0111281 psoriasis 15 ISO RGD:1323403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis 15, pustular, susceptibility to PMID:24033266|PMID:24791904|PMID:25741868|PMID:28887889 8791405 Ap1s3 adaptor related protein complex 1 subunit sigma 3 gene DOID:0111281 psoriasis 15 susceptibility ISO RGD:1323403 D RGD:7240710 20190904 OMIM 8791405 Ap1s3 adaptor related protein complex 1 subunit sigma 3 gene DOID:630 genetic disease ISO RGD:1323403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791405 Ap1s3 adaptor related protein complex 1 subunit sigma 3 gene DOID:8893 psoriasis ISO RGD:1323403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8791405 Ap1s3 adaptor related protein complex 1 subunit sigma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060017 CD3epsilon deficiency ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060796 hypomyelinating leukodystrophy 12 ISO RGD:1317575 D RGD:7240710 20190315 OMIM 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060796 hypomyelinating leukodystrophy 12 ISO RGD:1317575 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 PMID:25741868|PMID:26307567|PMID:27120463|PMID:28492532|PMID:32316234 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1317575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0080690 RASopathy ISO RGD:1317575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0081330 glycogen storage disease Ib ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0110651 long QT syndrome 10 ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0111971 immunodeficiency 18 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0111972 immunodeficiency 19 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:0111973 immunodeficiency 17 ISO RGD:1317575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:5419 schizophrenia ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1317575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9000126 Dystonia 32 ISO RGD:1317575 D RGD:7240710 20211222 OMIM 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9000126 Dystonia 32 ISO RGD:1317575 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Dystonia 32 PMID:25741868|PMID:28492532 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9002704 Leukoencephalopathies ISO RGD:1317575 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868|PMID:26307567|PMID:27120463|PMID:28492532|PMID:32316234 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8791457 Vps11 VPS11 core subunit of CORVET and HOPS complexes gene DOID:9007661 Dwarfism ISO RGD:1317575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8791480 Kifbp kinesin family binding protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1317800 D RGD:7240710 20190315 OMIM 8791480 Kifbp kinesin family binding protein gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1317800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15883926|PMID:18414213|PMID:23427148|PMID:24072599|PMID:24901346|PMID:25741868|PMID:26467025|PMID:28277559|PMID:28492532|PMID:32939943 8791480 Kifbp kinesin family binding protein gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1317800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 8791480 Kifbp kinesin family binding protein gene DOID:1059 intellectual disability ISO RGD:1317800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 8791480 Kifbp kinesin family binding protein gene DOID:10907 microcephaly ISO RGD:1317800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15883926 8791480 Kifbp kinesin family binding protein gene DOID:574 peripheral nervous system disease ISO RGD:1317800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 8791480 Kifbp kinesin family binding protein gene DOID:630 genetic disease ISO RGD:1317800 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8791480 Kifbp kinesin family binding protein gene DOID:870 neuropathy ISO RGD:1317800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 8791480 Kifbp kinesin family binding protein gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1317800 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome PMID:24901346|PMID:25741868|PMID:28492532 8791496 Supt6h SPT6 homolog, histone chaperone and transcription elongation factor gene DOID:630 genetic disease ISO RGD:1319556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791544 Clic1 chloride intracellular channel 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8791544 Clic1 chloride intracellular channel 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8791544 Clic1 chloride intracellular channel 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8791544 Clic1 chloride intracellular channel 1 gene DOID:630 genetic disease ISO RGD:1353337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791544 Clic1 chloride intracellular channel 1 gene DOID:8398 osteoarthritis ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8791544 Clic1 chloride intracellular channel 1 gene DOID:9000058 Keloid ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8791544 Clic1 chloride intracellular channel 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8791544 Clic1 chloride intracellular channel 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8791544 Clic1 chloride intracellular channel 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8791564 Itga9 integrin subunit alpha 9 gene DOID:0050451 Brugada syndrome ISO RGD:1322518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 8791564 Itga9 integrin subunit alpha 9 gene DOID:0060646 congenital chylothorax ISO RGD:1322519 D RGD:9068941 20220825 MouseDO OMIM:603523 8791564 Itga9 integrin subunit alpha 9 gene DOID:10763 hypertension susceptibility ISO RGD:1322518 D RGD:9068941 20200609 RGD DNA:SNP: :rs155524(human) PMID:20479155|REF_RGD_ID:13602005 8791564 Itga9 integrin subunit alpha 9 gene DOID:1793 pancreatic cancer ISO RGD:1322518 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 8791564 Itga9 integrin subunit alpha 9 gene DOID:3526 cerebral infarction susceptibility ISO RGD:1322518 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:rs189897,rs2212020(human) PMID:21764681|REF_RGD_ID:13602007 8791564 Itga9 integrin subunit alpha 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322518 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086 8791564 Itga9 integrin subunit alpha 9 gene DOID:630 genetic disease ISO RGD:1322518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791564 Itga9 integrin subunit alpha 9 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1322518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8791595 Ncapd3 non-SMC condensin II complex subunit D3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8791595 Ncapd3 non-SMC condensin II complex subunit D3 gene DOID:1059 intellectual disability ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8791595 Ncapd3 non-SMC condensin II complex subunit D3 gene DOID:5419 schizophrenia ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8791595 Ncapd3 non-SMC condensin II complex subunit D3 gene DOID:630 genetic disease ISO RGD:1603696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8791595 Ncapd3 non-SMC condensin II complex subunit D3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8791595 Ncapd3 non-SMC condensin II complex subunit D3 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 8791595 Ncapd3 non-SMC condensin II complex subunit D3 gene DOID:9009172 Primary Autosomal Recessive Microcephaly 22 ISO RGD:1603696 D RGD:7240710 20190315 OMIM 8791595 Ncapd3 non-SMC condensin II complex subunit D3 gene DOID:9009172 Primary Autosomal Recessive Microcephaly 22 ISO RGD:1603696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive PMID:25741868|PMID:27737959 8791634 Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:2937319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8791634 Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:12849 autistic disorder ISO RGD:2937319 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism 8791634 Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:3312 bipolar disorder ISO RGD:2937319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8791634 Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:3883 Lynch syndrome ISO RGD:2937319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome 8791634 Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 gene DOID:630 genetic disease ISO RGD:2937319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791664 Cd99l2 CD99 molecule like 2 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:735542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 8791664 Cd99l2 CD99 molecule like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8791664 Cd99l2 CD99 molecule like 2 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:735542 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 8791664 Cd99l2 CD99 molecule like 2 gene DOID:12849 autistic disorder ISO RGD:735542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8791664 Cd99l2 CD99 molecule like 2 gene DOID:630 genetic disease ISO RGD:735542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791664 Cd99l2 CD99 molecule like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8791676 Izumo1 izumo sperm-oocyte fusion 1 gene DOID:630 genetic disease ISO RGD:1604485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:0050746 mantle cell lymphoma ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mantle cell lymphoma PMID:10706620|PMID:28492532 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:0050753 cerebellar ataxia ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:29909963|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:0080875 IDH-mutant anaplastic astrocytoma ISO RGD:1603171 D RGD:8554872 20240123 ClinVar ClinVar Annotator: match by term: Astrocytoma IDH-mutant PMID:19781682|PMID:25503501|PMID:25741868|PMID:28492532|PMID:28779002 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:0080904 astroblastoma, MN1-altered ISO RGD:1603171 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Astroblastoma, MN1-altered PMID:17344846|PMID:20305132|PMID:25741868|PMID:25980754|PMID:26206375|PMID:26467025|PMID:26689913|PMID:26787654|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28779002|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31920950|PMID:32606146|PMID:33471991|PMID:34284872|PMID:35886069 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1603171 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: T-cell prolymphocytic leukemia PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12072552|PMID:12195425|PMID:12552559|PMID:12969974|PMID:14562025|PMID:16652348|PMID:16832357|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32427313|PMID:32748564|PMID:32853339|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:34117267|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:1603171 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:25741868 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:10534 stomach cancer ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10330348|PMID:10397742|PMID:10416970|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11756177|PMID:12149228|PMID:12552559|PMID:12552566|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15101044|PMID:15196260|PMID:15390180|PMID:15928302|PMID:16199547|PMID:16266405|PMID:16941484|PMID:17124347|PMID:17376192|PMID:17576681|PMID:17910737|PMID:17968022|PMID:18560558|PMID:18573109|PMID:18634022|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19691550|PMID:19781682|PMID:20153123|PMID:20301790|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21792198|PMID:21933854|PMID:22017321|PMID:22071889|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23454770|PMID:23585524|PMID:23632773|PMID:23807571|PMID:25122203|PMID:25186627|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26022348|PMID:26094658|PMID:26467025|PMID:26506520|PMID:26628246|PMID:26677768|PMID:26681312|PMID:27121310|PMID:27159176|PMID:27732944|PMID:27884168|PMID:27913932|PMID:28139868|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28779002|PMID:29482223|PMID:29600275|PMID:29625052|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29752822|PMID:29906526|PMID:29909963|PMID:29922827|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30338439|PMID:30549301|PMID:30607632|PMID:30620386|PMID:31012270|PMID:31050087|PMID:31118792|PMID:31139954|PMID:31263571|PMID:31382929|PMID:31691010|PMID:31784493|PMID:31811167|PMID:31882575|PMID:32002120|PMID:32068069|PMID:32471518|PMID:32694154|PMID:32754152|PMID:32810930|PMID:32918381|PMID:33239428|PMID:33280026|PMID:33436325|PMID:33471991|PMID:33552952|PMID:34247626|PMID:34377931|PMID:34680501|PMID:34755017|PMID:34873480|PMID:34949663|PMID:36029002|PMID:36704080|PMID:36988593|PMID:37445923|PMID:8698354|PMID:8755918|PMID:8808599|PMID:8845835|PMID:9334731|PMID:9443866|PMID:9488043|PMID:9536098|PMID:9872980|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1059 intellectual disability ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:11054 urinary bladder cancer ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10864201|PMID:10980530|PMID:12400598|PMID:18560558|PMID:19431188|PMID:19691550|PMID:20966255|PMID:21150274|PMID:22649200|PMID:23807571|PMID:25614872|PMID:25741868|PMID:26628246|PMID:27153395|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29360161|PMID:29371908|PMID:30549301|PMID:31050087|PMID:32676327|PMID:33048355|PMID:36988593|PMID:8755918|PMID:9450874|PMID:9463314|PMID:9497252|PMID:9733514 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28188106|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34606182|PMID:34646395|PMID:34653963|PMID:35039564|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1603171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1520 colon carcinoma ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:17910737|PMID:19404735|PMID:20305132|PMID:23555315|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32113160|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395|PMID:35264596|PMID:8845835 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27978560|PMID:27988859|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28188106|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30128536|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31882575|PMID:31920950|PMID:31921681|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32566746|PMID:32601921|PMID:32832836|PMID:32860008|PMID:32906206|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33747920|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9792409|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33747920|PMID:33919281|PMID:34067464|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35365198|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35365198|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35154108|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35763645|PMID:36315919|PMID:36704080|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35708139|PMID:35734982|PMID:35763645|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28495237|PMID:28608266|PMID:28652578|PMID:28724467|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1612 breast cancer ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:36091166|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:1781 thyroid cancer ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer PMID:28492532 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:2394 ovarian cancer ISO RGD:1603171 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:10330348|PMID:11756185|PMID:12552559|PMID:17576681|PMID:21933854|PMID:22585167|PMID:23807571|PMID:25032865|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:26094658|PMID:26270727|PMID:26467025|PMID:26681312|PMID:28007021|PMID:28008555|PMID:28492532|PMID:30322717|PMID:30549301|PMID:31050087|PMID:8659541|PMID:9463314|PMID:9536098|PMID:9872980 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:2394 ovarian cancer ISO RGD:1603171 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10330348|PMID:10817650|PMID:10873394|PMID:11756185|PMID:12091354|PMID:12552559|PMID:12935922|PMID:14706517|PMID:15756685|PMID:18634022|PMID:19781682|PMID:20305132|PMID:21665257|PMID:21933854|PMID:21993670|PMID:22585167|PMID:23807571|PMID:24728327|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:26094658|PMID:26270727|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26976419|PMID:28007021|PMID:28008555|PMID:28135145|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:29317520|PMID:29522266|PMID:29641532|PMID:29684080|PMID:30093976|PMID:30303537|PMID:30311369|PMID:30322717|PMID:30374176|PMID:30549301|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31248605|PMID:31285527|PMID:31422574|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32658311|PMID:32936981|PMID:33395407|PMID:33471991|PMID:33552952|PMID:35245693|PMID:35264596|PMID:8659541|PMID:9443866|PMID:9463314|PMID:9872980 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:2871 endometrial carcinoma ISO RGD:1603171 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12810666|PMID:19781682|PMID:21787400|PMID:23555315|PMID:25741868|PMID:25980754|PMID:26787654|PMID:26837699|PMID:28492532|PMID:28873162|PMID:29659569|PMID:30651582|PMID:31159747|PMID:31920950|PMID:33436325|PMID:33558524|PMID:36521553 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:299 adenocarcinoma ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:12810666|PMID:15390180|PMID:16266405|PMID:17576681|PMID:20153123|PMID:22585167|PMID:25614872|PMID:25741868|PMID:26506520|PMID:27159176|PMID:28492532|PMID:29678143|PMID:31012270|PMID:34377931|PMID:36029002|PMID:36988593|PMID:37445923|PMID:9443866|PMID:9536098|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:3068 glioblastoma ISO RGD:1603171 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19781682|PMID:23322442|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9054948 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:3070 high grade glioma ISO RGD:1603171 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant glioma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11298136|PMID:12552559|PMID:21445571|PMID:21459046|PMID:21792198|PMID:25741868|PMID:26681312|PMID:28492532|PMID:29478780|PMID:30549301|PMID:33471991|PMID:8659541|PMID:8808599|PMID:9000145|PMID:9463314 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:3459 breast carcinoma ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma PMID:10330348|PMID:10817650|PMID:10980530|PMID:11805335|PMID:12810666|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16864838|PMID:17344846|PMID:17576681|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:20153123|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22585167|PMID:23807571|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29678143|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31012270|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32558426|PMID:32658311|PMID:32854451|PMID:32875559|PMID:32957588|PMID:33471991|PMID:34377931|PMID:34445196|PMID:36029002|PMID:36988593|PMID:37445923|PMID:9443866|PMID:9536098|PMID:9622061|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1603171 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:19404735|PMID:20305132|PMID:23555315|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32113160|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395|PMID:35264596 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:4450 renal cell carcinoma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10571946 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10980530|PMID:18560558|PMID:19431188|PMID:19691550|PMID:19779456|PMID:25186627|PMID:25741868|PMID:26628246|PMID:28492532|PMID:29522266|PMID:33747920|PMID:8755918|PMID:9792409 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:4905 pancreatic carcinoma ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10330348|PMID:10817650|PMID:10980530|PMID:12497634|PMID:12673797|PMID:12810666|PMID:14586414|PMID:14970866|PMID:15101044|PMID:15390180|PMID:16266405|PMID:17576681|PMID:1849795|PMID:18497957|PMID:20153123|PMID:21833744|PMID:22585167|PMID:23454770|PMID:23807571|PMID:24556621|PMID:25614872|PMID:25741868|PMID:26483394|PMID:26506520|PMID:26822949|PMID:27159176|PMID:28492532|PMID:29678143|PMID:29758562|PMID:31012270|PMID:32295079|PMID:3338800|PMID:33919281|PMID:34337741|PMID:34377931|PMID:34680878|PMID:35078243|PMID:36029002|PMID:36988593|PMID:37445923|PMID:8808599|PMID:9443866|PMID:9536098|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32853339|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33630411|PMID:33747920|PMID:33850299|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32853339|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9764584|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25502423|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34117267|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:35047863|PMID:35245693|PMID:35264596|PMID:35708139|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:100011|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25040471|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25502423|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34337741|PMID:34646395|PMID:34680878|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35245693|PMID:35264596|PMID:35312250|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36568162|PMID:36988593|PMID:581456|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:630 genetic disease ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:687 hepatoblastoma ISO RGD:1603171 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:21665257|PMID:25186627|PMID:25741868|PMID:26787654|PMID:28492532|PMID:29522266|PMID:33471991 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9002928 Colonic Neoplasms ISO RGD:1603171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30482293|PMID:32658311 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:28492532 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9005539 Familial Prostate Cancer ISO RGD:1603171 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:15928302|PMID:16941484|PMID:17124347|PMID:17910737|PMID:19431188|PMID:21665257|PMID:21792198|PMID:22071889|PMID:23454770|PMID:23632773|PMID:25122203|PMID:25741868|PMID:27913932|PMID:28492532|PMID:28779002|PMID:29600275|PMID:29909963|PMID:30338439|PMID:33280026|PMID:33436325|PMID:33471991|PMID:34755017|PMID:36988593 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9005628 Ataxia-Telangiectasia Variant ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ataxia - telangiectasia variant PMID:10234507|PMID:10330348|PMID:11382771|PMID:11805335|PMID:11826028|PMID:11830610|PMID:12072552|PMID:12969974|PMID:14562025|PMID:14654357|PMID:15174027|PMID:15928302|PMID:16832357|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:19823873|PMID:20301790|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22345219|PMID:22529920|PMID:22585167|PMID:23143971|PMID:24088041|PMID:24733792|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25186627|PMID:25741868|PMID:25914063|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26896183|PMID:26898890|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:28008555|PMID:28492532|PMID:28779002|PMID:29719442|PMID:29915382|PMID:30504431|PMID:30549301|PMID:31447099|PMID:32255556|PMID:32338768|PMID:32427313|PMID:32748564|PMID:32754152|PMID:32853339|PMID:33436325|PMID:33471991|PMID:33509806|PMID:34117267|PMID:35710434|PMID:581456|PMID:8755819|PMID:8755918|PMID:8808599|PMID:9000145|PMID:9288106|PMID:9463314|PMID:9792410|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1603171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10571946 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24451234|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28188106|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34299313|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34371384|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35201558|PMID:35260754|PMID:35309086|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35666082|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36704080|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35127508|PMID:35154108|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:35039564|PMID:35047863|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1603171 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1603171 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12072552|PMID:12195425|PMID:12552559|PMID:12969974|PMID:14562025|PMID:16652348|PMID:16832357|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32427313|PMID:32748564|PMID:32853339|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:34117267|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16603769|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18384426|PMID:18414213|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22345219|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22869595|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24356096|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:1603171 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:34377931|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36704080|PMID:36988593|PMID:37262986|PMID:37438524|PMID:37445923|PMID:4012663|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9256 colorectal cancer ISO RGD:1603171 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26681312|PMID:27433846|PMID:28492532|PMID:29360161|PMID:30067863|PMID:31159747|PMID:32295079|PMID:9443866|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9256 colorectal cancer ISO RGD:1603171 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:100011|PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26681312|PMID:27433846|PMID:28492532|PMID:29360161|PMID:30067863|PMID:30772474|PMID:31159747|PMID:32295079|PMID:33050356|PMID:33330270|PMID:34199532|PMID:35716007|PMID:9443866|PMID:9887333 8791690 CUNH11orf65 chromosome unknown C11orf65 homolog gene DOID:9460 uterine corpus cancer ISO RGD:1603171 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11805335|PMID:15279808|PMID:16864838|PMID:19535770|PMID:19605768|PMID:21354641|PMID:21778326|PMID:21792198|PMID:21965147|PMID:22146522|PMID:22213089|PMID:25122203|PMID:2557216|PMID:25572163|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26681312|PMID:26976419|PMID:28126470|PMID:28492532|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:32854451|PMID:32875559|PMID:33471991|PMID:34445196 8791703 Dync2i1 dynein 2 intermediate chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605671 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532|PMID:29068549 8791703 Dync2i1 dynein 2 intermediate chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1605671 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:25741868|PMID:28492532|PMID:29068549 8791703 Dync2i1 dynein 2 intermediate chain 1 gene DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly ISO RGD:1605671 D RGD:7240710 20180130 OMIM 8791703 Dync2i1 dynein 2 intermediate chain 1 gene DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly ISO RGD:1605671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly PMID:17576681|PMID:23910462|PMID:24033266|PMID:25492405|PMID:25640679|PMID:25741868|PMID:28422394|PMID:28492532|PMID:29068549|PMID:30320547|PMID:9068549|PMID:9536098 8791703 Dync2i1 dynein 2 intermediate chain 1 gene DOID:12849 autistic disorder ISO RGD:1605671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8791703 Dync2i1 dynein 2 intermediate chain 1 gene DOID:5419 schizophrenia ISO RGD:1605671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8791703 Dync2i1 dynein 2 intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1605671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8791731 Cbr1 carbonyl reductase 1 gene DOID:0050700 cardiomyopathy ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11016643 8791731 Cbr1 carbonyl reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737546 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8791731 Cbr1 carbonyl reductase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8791731 Cbr1 carbonyl reductase 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8791731 Cbr1 carbonyl reductase 1 gene DOID:0080600 COVID-19 ISO RGD:737546 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8791731 Cbr1 carbonyl reductase 1 gene DOID:1588 thrombocytopenia ISO RGD:737546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 8791731 Cbr1 carbonyl reductase 1 gene DOID:2772 irritant dermatitis ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25818598 8791731 Cbr1 carbonyl reductase 1 gene DOID:630 genetic disease ISO RGD:737546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791731 Cbr1 carbonyl reductase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21056497 8791731 Cbr1 carbonyl reductase 1 gene DOID:783 end stage renal disease ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26282591 8791731 Cbr1 carbonyl reductase 1 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:737546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 8791731 Cbr1 carbonyl reductase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8791731 Cbr1 carbonyl reductase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21056497 8791731 Cbr1 carbonyl reductase 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:737546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:25741868|PMID:34355501 8791740 Clcn4 chloride voltage-gated channel 4 gene DOID:0080600 COVID-19 ISO RGD:1342594 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8791740 Clcn4 chloride voltage-gated channel 4 gene DOID:0112060 Raynaud-Claes syndrome ISO RGD:1342594 D RGD:7240710 20180130 OMIM 8791740 Clcn4 chloride voltage-gated channel 4 gene DOID:0112060 Raynaud-Claes syndrome ISO RGD:1342594 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: MRX49 | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME PMID:17576681|PMID:23647072|PMID:25644381|PMID:25741868|PMID:25741869|PMID:26633542|PMID:27550844|PMID:28492532|PMID:29314583|PMID:31452935|PMID:31690835|PMID:31780880|PMID:31785789|PMID:33504798|PMID:33880059|PMID:36385166|PMID:8826458|PMID:9415477|PMID:9536098 8791740 Clcn4 chloride voltage-gated channel 4 gene DOID:1059 intellectual disability ISO RGD:1342594 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:31785789|PMID:33504798|PMID:36385166 8791740 Clcn4 chloride voltage-gated channel 4 gene DOID:10907 microcephaly ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8791740 Clcn4 chloride voltage-gated channel 4 gene DOID:12849 autistic disorder ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8791740 Clcn4 chloride voltage-gated channel 4 gene DOID:1826 epilepsy ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8791740 Clcn4 chloride voltage-gated channel 4 gene DOID:630 genetic disease ISO RGD:1342594 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27550844|PMID:28492532|PMID:29314583|PMID:31785789|PMID:33504798|PMID:36385166 8791740 Clcn4 chloride voltage-gated channel 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8791740 Clcn4 chloride voltage-gated channel 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1342594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8791777 Gapt GRB2 binding adaptor protein, transmembrane gene DOID:630 genetic disease ISO RGD:1604723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791777 Gapt GRB2 binding adaptor protein, transmembrane gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8791785 Msn moesin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8791785 Msn moesin gene DOID:0112001 immunodeficiency 50 ISO RGD:732547 D RGD:7240710 20190315 OMIM 8791785 Msn moesin gene DOID:0112001 immunodeficiency 50 ISO RGD:732547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to moesin deficiency | ClinVar Annotator: match by term: Immunodeficiency 50 PMID:24033266|PMID:25741868|PMID:27405666|PMID:28378256|PMID:28492532|PMID:29556235 8791785 Msn moesin gene DOID:12849 autistic disorder ISO RGD:732547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8791785 Msn moesin gene DOID:630 genetic disease ISO RGD:732547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791785 Msn moesin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8791785 Msn moesin gene DOID:8398 osteoarthritis ISO RGD:732547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8791785 Msn moesin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8791785 Msn moesin gene DOID:9007102 Myocardial Ischemia ISO RGD:732547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8791806 Polr2i RNA polymerase II subunit I gene DOID:0110222 Brugada syndrome 5 ISO RGD:1319717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8791806 Polr2i RNA polymerase II subunit I gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1319717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8791806 Polr2i RNA polymerase II subunit I gene DOID:630 genetic disease ISO RGD:1319717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791822 Atp5mf ATP synthase membrane subunit f gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8791822 Atp5mf ATP synthase membrane subunit f gene DOID:630 genetic disease ISO RGD:1345847 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791834 Eid1 EP300 interacting inhibitor of differentiation 1 gene DOID:2717 Bloom syndrome ISO RGD:1348426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8791834 Eid1 EP300 interacting inhibitor of differentiation 1 gene DOID:630 genetic disease ISO RGD:1348426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791834 Eid1 EP300 interacting inhibitor of differentiation 1 gene DOID:9003566 Mesothelioma ISO RGD:1348426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 8791834 Eid1 EP300 interacting inhibitor of differentiation 1 gene DOID:9256 colorectal cancer ISO RGD:1348426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8791845 Epha7 EPH receptor A7 gene DOID:5409 lung small cell carcinoma ISO RGD:732959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 8791845 Epha7 EPH receptor A7 gene DOID:630 genetic disease ISO RGD:732959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791845 Epha7 EPH receptor A7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:70957 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:16983667|REF_RGD_ID:2301957 8791845 Epha7 EPH receptor A7 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30357299 8791845 Epha7 EPH receptor A7 gene DOID:9008217 Hemorrhage ISO RGD:732959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30357299 8791886 Arid3b AT-rich interaction domain 3B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8791886 Arid3b AT-rich interaction domain 3B gene DOID:2717 Bloom syndrome ISO RGD:1314897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8791886 Arid3b AT-rich interaction domain 3B gene DOID:5419 schizophrenia ISO RGD:1314897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8791886 Arid3b AT-rich interaction domain 3B gene DOID:630 genetic disease ISO RGD:1314897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791886 Arid3b AT-rich interaction domain 3B gene DOID:9256 colorectal cancer ISO RGD:1314897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8791910 Myo1e myosin IE gene DOID:0080600 COVID-19 ISO RGD:1350355 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8791910 Myo1e myosin IE gene DOID:0111131 focal segmental glomerulosclerosis 6 ISO RGD:1350355 D RGD:7240710 20180130 OMIM 8791910 Myo1e myosin IE gene DOID:0111131 focal segmental glomerulosclerosis 6 ISO RGD:1350355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition PMID:17576681|PMID:21756023|PMID:25741868|PMID:28492532|PMID:33532864|PMID:9536098 8791910 Myo1e myosin IE gene DOID:0111365 benign familial hematuria ISO RGD:1350355 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:24033266|PMID:25741868|PMID:28492532 8791910 Myo1e myosin IE gene DOID:1184 nephrotic syndrome ISO RGD:1350355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:29127259 8791910 Myo1e myosin IE gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1350355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8791910 Myo1e myosin IE gene DOID:2717 Bloom syndrome ISO RGD:1350355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8791910 Myo1e myosin IE gene DOID:5419 schizophrenia ISO RGD:1350355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8791910 Myo1e myosin IE gene DOID:557 kidney disease ISO RGD:1350355 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:24033266|PMID:25741868|PMID:28492532 8791910 Myo1e myosin IE gene DOID:630 genetic disease ISO RGD:1350355 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33532864 8791910 Myo1e myosin IE gene DOID:9256 colorectal cancer ISO RGD:1350355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8791941 Serac1 serine active site containing 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1349770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266 8791941 Serac1 serine active site containing 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1349770 D RGD:7240710 20180130 OMIM 8791941 Serac1 serine active site containing 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1349770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome PMID:15220921|PMID:16199547|PMID:17576681|PMID:22683713|PMID:23707711|PMID:24033266|PMID:24997715|PMID:25016221|PMID:25741868|PMID:26863999|PMID:27604308|PMID:28482397|PMID:28492532|PMID:28778788|PMID:28916646|PMID:29205472|PMID:31251474|PMID:32005694|PMID:32313153|PMID:33431980|PMID:33613893|PMID:9536098 8791941 Serac1 serine active site containing 1 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1349770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 8791941 Serac1 serine active site containing 1 gene DOID:1826 epilepsy ISO RGD:1349770 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8791941 Serac1 serine active site containing 1 gene DOID:3146 lipid metabolism disorder ISO RGD:1349770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683713 8791941 Serac1 serine active site containing 1 gene DOID:543 dystonia ISO RGD:1349770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683713 8791941 Serac1 serine active site containing 1 gene DOID:630 genetic disease ISO RGD:1349770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:33431980|PMID:9536098 8791941 Serac1 serine active site containing 1 gene DOID:9008681 Deafness ISO RGD:1349770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683713 8791970 Gins4 GINS complex subunit 4 gene DOID:630 genetic disease ISO RGD:1601940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791997 Tcea3 transcription elongation factor A3 gene DOID:630 genetic disease ISO RGD:1322790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8791997 Tcea3 transcription elongation factor A3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8792043 Kcnip1 potassium voltage-gated channel interacting protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy 8792043 Kcnip1 potassium voltage-gated channel interacting protein 1 gene DOID:630 genetic disease ISO RGD:732298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792043 Kcnip1 potassium voltage-gated channel interacting protein 1 gene DOID:9008282 Diastolic Hypertension, Resistance to ISO RGD:732298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, diastolic, resistance to PMID:15057310|PMID:16155733 8792067 Yae1 YAE1 maturation factor of ABCE1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8792067 Yae1 YAE1 maturation factor of ABCE1 gene DOID:630 genetic disease ISO RGD:1315329 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792078 Mcc MCC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:1351997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 8792078 Mcc MCC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351997 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8792078 Mcc MCC regulator of WNT signaling pathway gene DOID:10283 prostate cancer ISO RGD:1351997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8792078 Mcc MCC regulator of WNT signaling pathway gene DOID:1059 intellectual disability ISO RGD:1351997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 8792078 Mcc MCC regulator of WNT signaling pathway gene DOID:12849 autistic disorder ISO RGD:1351997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 8792078 Mcc MCC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:1351997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 8792078 Mcc MCC regulator of WNT signaling pathway gene DOID:1984 rectal benign neoplasm ISO RGD:1351997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 8792078 Mcc MCC regulator of WNT signaling pathway gene DOID:630 genetic disease ISO RGD:1351997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792078 Mcc MCC regulator of WNT signaling pathway gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8792078 Mcc MCC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351997 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8792078 Mcc MCC regulator of WNT signaling pathway gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351997 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8792078 Mcc MCC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:1351997 D RGD:7240710 20200226 OMIM 8792107 Smim24 small integral membrane protein 24 gene DOID:630 genetic disease ISO RGD:3380006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792107 Smim24 small integral membrane protein 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3380006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8792115 Csde1 cold shock domain containing E1 gene DOID:0080690 RASopathy ISO RGD:1607084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8792115 Csde1 cold shock domain containing E1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1607084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8792115 Csde1 cold shock domain containing E1 gene DOID:630 genetic disease ISO RGD:1607084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8792146 Nat14 N-acetyltransferase 14 (putative) gene DOID:630 genetic disease ISO RGD:1601749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792153 Gprasp3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8792153 Gprasp3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:12849 autistic disorder ISO RGD:1347976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8792153 Gprasp3 G protein-coupled receptor associated sorting protein family member 3 gene DOID:630 genetic disease ISO RGD:1347976 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792162 Pi16 peptidase inhibitor 16 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1312389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8792162 Pi16 peptidase inhibitor 16 gene DOID:630 genetic disease ISO RGD:1312389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792174 Spink2 serine peptidase inhibitor Kazal type 2 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1349585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 8792174 Spink2 serine peptidase inhibitor Kazal type 2 gene DOID:0111930 spermatogenic failure 29 ISO RGD:1349585 D RGD:7240710 20190315 OMIM 8792174 Spink2 serine peptidase inhibitor Kazal type 2 gene DOID:0111930 spermatogenic failure 29 ISO RGD:1349585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 29 PMID:25741868|PMID:28554943 8792174 Spink2 serine peptidase inhibitor Kazal type 2 gene DOID:630 genetic disease ISO RGD:1349585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792186 Spic Spi-C transcription factor gene DOID:630 genetic disease ISO RGD:1314796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792209 Ldlr low density lipoprotein receptor gene DOID:0050990 episodic ataxia type 2 ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8792209 Ldlr low density lipoprotein receptor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8792209 Ldlr low density lipoprotein receptor gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type PMID:11139254|PMID:11317361|PMID:11641914|PMID:11754108|PMID:1301956|PMID:15199436|PMID:15241806|PMID:15864114|PMID:17196209|PMID:17335829|PMID:17539906|PMID:17765246|PMID:18206115|PMID:18263977|PMID:19026292|PMID:19118540|PMID:19446849|PMID:20145306|PMID:20506408|PMID:20663204|PMID:21310417|PMID:21865347|PMID:21925044|PMID:22390909|PMID:22698793|PMID:23375686|PMID:24033266|PMID:24507775|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26467025|PMID:26723464|PMID:27765764|PMID:27824480|PMID:27998977|PMID:28492532|PMID:28965616|PMID:29261184|PMID:30710474|PMID:31345425|PMID:31447099|PMID:31617323|PMID:31947532|PMID:32041611|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:33975813|PMID:34037665|PMID:34167030|PMID:35535697|PMID:35741760|PMID:9654205|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20938947|PMID:23127599|PMID:23285030 8792209 Ldlr low density lipoprotein receptor gene DOID:0080600 COVID-19 ISO RGD:735594 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8792209 Ldlr low density lipoprotein receptor gene DOID:0080685 aortic dissection ISO RGD:735594 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Aortic dissection PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:34906454|PMID:8882879|PMID:9157944|PMID:9484998 8792209 Ldlr low density lipoprotein receptor gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8792209 Ldlr low density lipoprotein receptor gene DOID:0111254 glutaric acidemia I ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8792209 Ldlr low density lipoprotein receptor gene DOID:10230 aortic atherosclerosis ISO RGD:2998 D RGD:9068941 20211112 RGD PMID:29459263|REF_RGD_ID:13703129 8792209 Ldlr low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:10864 D RGD:9068941 20200609 RGD PMID:21755005|REF_RGD_ID:5490231 8792209 Ldlr low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs: :rs5925, rs2738444, rs11669576 (human) PMID:17239995|REF_RGD_ID:5490239 8792209 Ldlr low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:exon (human) PMID:15689450|REF_RGD_ID:5490242 8792209 Ldlr low density lipoprotein receptor gene DOID:10652 Alzheimer's disease ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs5925, rs5927, rs5930 (human) PMID:15585340|REF_RGD_ID:5490244 8792209 Ldlr low density lipoprotein receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs5925, rs5927, rs5930 (human) PMID:16378661|REF_RGD_ID:5490243 8792209 Ldlr low density lipoprotein receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human) PMID:16741934|REF_RGD_ID:5490241 8792209 Ldlr low density lipoprotein receptor gene DOID:11100 Q fever ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 8792209 Ldlr low density lipoprotein receptor gene DOID:1168 familial hyperlipidemia ISO RGD:2998 D RGD:9068941 20211112 RGD PMID:29459263|REF_RGD_ID:13703129 8792209 Ldlr low density lipoprotein receptor gene DOID:1168 familial hyperlipidemia ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11947894|PMID:25619500 8792209 Ldlr low density lipoprotein receptor gene DOID:12783 migraine without aura ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:repeat:exon (human) PMID:12873747|REF_RGD_ID:5490245 8792209 Ldlr low density lipoprotein receptor gene DOID:13809 familial combined hyperlipidemia ISO RGD:735594 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208490|PMID:15256764|PMID:17142622|PMID:17765246|PMID:18263977|PMID:19318025|PMID:20145306|PMID:20538126|PMID:20809525|PMID:21310417|PMID:21382890|PMID:22390909|PMID:22698793|PMID:23375686|PMID:25461735|PMID:25487149|PMID:25525159|PMID:25741868|PMID:25846081|PMID:26467025|PMID:27680772|PMID:28235710|PMID:28492532|PMID:28645073|PMID:29261184|PMID:30592178|PMID:31345425|PMID:31727422|PMID:32331935|PMID:32522009|PMID:32719484|PMID:32770674|PMID:33087929|PMID:33269076|PMID:33418990|PMID:33740630|PMID:34037665|PMID:7616128|PMID:7709162|PMID:9039985|PMID:9259195|PMID:9654205 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:7240710 20180130 OMIM 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22220933|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22544571|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23669246|PMID:23680767|PMID:23815734|PMID:23820649|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24671153|PMID:24722143|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26361156|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27578128|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:2831865|PMID:28349240|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:2920733|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29874871|PMID:2988123|PMID:29974534|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270359|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31345425|PMID:31371270|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31617323|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31947532|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32113782|PMID:32143996|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32706999|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33079599|PMID:33087929|PMID:33111339|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:3343347|PMID:33508743|PMID:33740630|PMID:3391282|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34456200|PMID:3472763|PMID:3475071|PMID:34906454|PMID:34998859|PMID:3549308|PMID:35535697|PMID:3572996|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6324732|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12112655|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30332439|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34906454|PMID:3494949|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:34970301|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32165824|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25786579|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35929461|PMID:36226792|PMID:3627182|PMID:36325061|PMID:36499307 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35929461|PMID:36226792|PMID:36229376|PMID:3627182|PMID:36325061|PMID:36499307|PMID:3815525|PMID:3818645 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35929461|PMID:36226792|PMID:36229376|PMID:3627182|PMID:36325061|PMID:36499307|PMID:3815525|PMID:3818645 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35913489|PMID:35929461 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:36226792|PMID:36229376|PMID:3627182|PMID:36325061|PMID:36499307|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34176852|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35177841|PMID:35222550|PMID:35339733|PMID:35379578|PMID:35460704 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:35480308|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35913489|PMID:35928446|PMID:35929461|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36499307|PMID:36507290|PMID:37119068|PMID:37397863|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34176852|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35076666|PMID:35130036|PMID:35137788|PMID:35177841|PMID:35222550|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:36105085|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36499307|PMID:36507290|PMID:36769678|PMID:36901902|PMID:36973604|PMID:37119068|PMID:37397863|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:1374151|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:2506357|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:3280202|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068 8792209 Ldlr low density lipoprotein receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35626767|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37719435|PMID:37848354|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:735594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10208499|PMID:12730724|PMID:15701167|PMID:17445538|PMID:17694954|PMID:25741868|PMID:28492532 8792209 Ldlr low density lipoprotein receptor gene DOID:1883 hepatitis C disease_progression ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon, 3' utr (human) PMID:12209363|REF_RGD_ID:5490246 8792209 Ldlr low density lipoprotein receptor gene DOID:1936 atherosclerosis ISO RGD:10864 D RGD:9068941 20200609 RGD PMID:9614153|REF_RGD_ID:5490255 8792209 Ldlr low density lipoprotein receptor gene DOID:1936 atherosclerosis ISO RGD:2998 D RGD:9068941 20200609 RGD DNA:mutation:exon:478T > A(rat) PMID:22293196|REF_RGD_ID:12910105 8792209 Ldlr low density lipoprotein receptor gene DOID:1936 atherosclerosis ISO RGD:735594 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11947894|PMID:18450471|PMID:22153697|PMID:25619500|PMID:28899902|PMID:34717031|PMID:36108984 8792209 Ldlr low density lipoprotein receptor gene DOID:2349 arteriosclerosis ISO RGD:735594 D RGD:9068941 20200609 RGD PMID:12969990|REF_RGD_ID:1581826 8792209 Ldlr low density lipoprotein receptor gene DOID:3145 hyperlipoproteinemia type III ISO RGD:735594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia PMID:20809525|PMID:25741868|PMID:28492532|PMID:28645073|PMID:33740630 8792209 Ldlr low density lipoprotein receptor gene DOID:3345 xanthomatosis ISO RGD:2998 D RGD:9068941 20200609 RGD DNA:mutation:exon:478T > A(rat) PMID:22293196|REF_RGD_ID:12910105 8792209 Ldlr low density lipoprotein receptor gene DOID:3393 coronary artery disease ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:27135400 8792209 Ldlr low density lipoprotein receptor gene DOID:3393 coronary artery disease no_association ISO RGD:735594 D RGD:9068941 20200609 RGD PMID:16459141|REF_RGD_ID:1581823 8792209 Ldlr low density lipoprotein receptor gene DOID:3413 alpha-mannosidosis ISO RGD:735594 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8792209 Ldlr low density lipoprotein receptor gene DOID:5082 liver cirrhosis ISO RGD:735594 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36108984 8792209 Ldlr low density lipoprotein receptor gene DOID:557 kidney disease ISO RGD:10864 D RGD:9068941 20200609 RGD PMID:21795641|REF_RGD_ID:7241070 8792209 Ldlr low density lipoprotein receptor gene DOID:630 genetic disease ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10206683|PMID:10657581|PMID:10668928|PMID:10978268|PMID:11005141|PMID:11196104|PMID:11238294|PMID:11313767|PMID:11317361|PMID:11462246|PMID:11668640|PMID:11810272|PMID:11845603|PMID:11857755|PMID:11939787|PMID:12124988|PMID:12436241|PMID:12459547|PMID:1301940|PMID:1301956|PMID:1352322|PMID:14508510|PMID:15199436|PMID:15241806|PMID:15477777|PMID:15556094|PMID:16092059|PMID:16205024|PMID:16250003|PMID:16542394|PMID:16627557|PMID:16792510|PMID:17087781|PMID:17094996|PMID:17539906|PMID:17576681|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18247305|PMID:18325082|PMID:19020990|PMID:19073363|PMID:19208450|PMID:19837725|PMID:20145306|PMID:20236128|PMID:20538126|PMID:20736250|PMID:20809525|PMID:2088165|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21925044|PMID:22081141|PMID:22244043|PMID:22390909|PMID:22461740|PMID:22698793|PMID:22881376|PMID:22883975|PMID:23064986|PMID:23158915|PMID:2318961|PMID:23375686|PMID:23680767|PMID:24033266|PMID:24075752|PMID:24507775|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25637381|PMID:25682442|PMID:25741868|PMID:25807990|PMID:25962062|PMID:26467025|PMID:26608663|PMID:26795593|PMID:26875521|PMID:27206935|PMID:27206941|PMID:27578104|PMID:27678436|PMID:27765764|PMID:27784735|PMID:27824480|PMID:27830735|PMID:28235710|PMID:28290784|PMID:28458923|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28964736|PMID:29233637|PMID:29261184|PMID:29353225|PMID:29399563|PMID:30108616|PMID:30270083|PMID:30312929|PMID:30400955|PMID:30583242|PMID:30592178|PMID:30637778|PMID:30795984|PMID:30827231|PMID:30971288|PMID:31048103|PMID:31345425|PMID:31447099|PMID:32423031|PMID:32522009|PMID:3263645|PMID:32719484|PMID:32759540|PMID:33087929|PMID:33303402|PMID:33418990|PMID:33740630|PMID:33892292|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34363016|PMID:34456049|PMID:35047021|PMID:35130036|PMID:35379578|PMID:35910211|PMID:35913489|PMID:36226792|PMID:36229885|PMID:36325061|PMID:36499307|PMID:36980993|PMID:37397863|PMID:3807681|PMID:4061491|PMID:4061492|PMID:583768|PMID:6438436|PMID:7548065|PMID:7603991|PMID:7635461|PMID:7903864|PMID:7979249|PMID:9452094|PMID:9452118|PMID:9536098|PMID:9544726|PMID:9544850|PMID:9664576|PMID:9727746|PMID:9763532 8792209 Ldlr low density lipoprotein receptor gene DOID:807 carotid artery occlusion ISO RGD:735594 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carotid artery occlusion PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:34906454|PMID:8882879|PMID:9157944|PMID:9484998 8792209 Ldlr low density lipoprotein receptor gene DOID:9000528 Coronary Disease ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease PMID:10422804|PMID:11810272|PMID:11845603|PMID:17765246|PMID:19318025|PMID:20506408|PMID:21382890|PMID:21642693|PMID:22390909|PMID:23375686|PMID:24033266|PMID:25487149|PMID:25647241|PMID:25741868|PMID:28161202|PMID:28492532|PMID:28895539|PMID:29353225|PMID:30293936|PMID:30637778|PMID:30971288|PMID:32719484|PMID:33418990|PMID:33454241|PMID:33740630|PMID:34037665|PMID:35339733|PMID:35568682|PMID:36499307|PMID:9712531 8792209 Ldlr low density lipoprotein receptor gene DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B ISO RGD:735594 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:10208490|PMID:15256764|PMID:17142622|PMID:17765246|PMID:18263977|PMID:19318025|PMID:20145306|PMID:20538126|PMID:20809525|PMID:21310417|PMID:21382890|PMID:22390909|PMID:22698793|PMID:23375686|PMID:25461735|PMID:25487149|PMID:25525159|PMID:25741868|PMID:25846081|PMID:26467025|PMID:27680772|PMID:28235710|PMID:28492532|PMID:28645073|PMID:29261184|PMID:30592178|PMID:31345425|PMID:31727422|PMID:32331935|PMID:32522009|PMID:32719484|PMID:32770674|PMID:33087929|PMID:33269076|PMID:33418990|PMID:33740630|PMID:34037665|PMID:7616128|PMID:7709162|PMID:9039985|PMID:9259195|PMID:9654205 8792209 Ldlr low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:10090473|PMID:10090484|PMID:10208479|PMID:10230472|PMID:10422803|PMID:10441197|PMID:10532689|PMID:10559517|PMID:10634824|PMID:10657581|PMID:10735632|PMID:10882754|PMID:10978268|PMID:11005141|PMID:11139254|PMID:11196104|PMID:11317361|PMID:11435110|PMID:11462246|PMID:11600564|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11857755|PMID:11939787|PMID:12124988|PMID:12406975|PMID:12436241|PMID:12492446|PMID:12553167|PMID:12730724|PMID:1301940|PMID:1301956|PMID:1352322|PMID:14209286|PMID:14508510|PMID:1453433|PMID:14974088|PMID:15015036|PMID:15199436|PMID:15241806|PMID:15256764|PMID:15359125|PMID:1538685|PMID:15523646|PMID:15556092|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15890894|PMID:15914792|PMID:15998910|PMID:16159606|PMID:16199547|PMID:16250003|PMID:16314194|PMID:16389549|PMID:16424354|PMID:16542394|PMID:16627557|PMID:16792510|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17335829|PMID:17347910|PMID:1734910|PMID:17539906|PMID:17761685|PMID:17765246|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18263977|PMID:18325082|PMID:18400033|PMID:18503695|PMID:18718593|PMID:19026292|PMID:19062533|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19446849|PMID:1959928|PMID:19602640|PMID:1960926|PMID:19717150|PMID:19837725|PMID:19843101|PMID:20018285|PMID:20045108|PMID:20091938|PMID:20145306|PMID:20236128|PMID:20428891|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:2088165|PMID:20981092|PMID:21145767|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21475731|PMID:2153120|PMID:21531209|PMID:21722902|PMID:21865347|PMID:21868016|PMID:21925044|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22487947|PMID:22683370|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:23054246|PMID:23064986|PMID:23130880|PMID:2318961|PMID:23375686|PMID:23669246|PMID:23680767|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24373485|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24916650|PMID:24956927|PMID:2506353|PMID:25154303|PMID:25333069|PMID:25378237|PMID:25395200|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:25682026|PMID:25741862|PMID:25741868|PMID:25741872|PMID:25781017|PMID:25887683|PMID:25936317|PMID:26020417|PMID:26036859|PMID:26238499|PMID:26332594|PMID:26342331|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26723464|PMID:26748104|PMID:26802169|PMID:26892515|PMID:26927322|PMID:27044878|PMID:27050191|PMID:27153395|PMID:27175606|PMID:27206935|PMID:27206941|PMID:27247956|PMID:27497240|PMID:27578128|PMID:27596133|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27878139|PMID:27998977|PMID:28008010|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28161202|PMID:28166811|PMID:28220743|PMID:28391882|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28965616|PMID:29083407|PMID:29172679|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29502162|PMID:29874871|PMID:29937437|PMID:30016271|PMID:30019023|PMID:30179711|PMID:30241732|PMID:3025214|PMID:30270083|PMID:30270091|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30413722|PMID:30415195|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30777337|PMID:30795984|PMID:30971288|PMID:31048103|PMID:31106297|PMID:31213876|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31947532|PMID:31993549|PMID:32015373|PMID:32041611|PMID:32044282|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32231684|PMID:322919|PMID:32331935|PMID:32423031|PMID:32522009|PMID:32581083|PMID:3263645 8792209 Ldlr low density lipoprotein receptor gene DOID:9000808 Hypercholesterolemia ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:32660911|PMID:32675277|PMID:32695144|PMID:32715071|PMID:32719484|PMID:32770674|PMID:32878475|PMID:32892247|PMID:32906206|PMID:32977124|PMID:32989269|PMID:33079599|PMID:33087929|PMID:33226606|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:33854068|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34167030|PMID:34176852|PMID:34321884|PMID:34426522|PMID:34496902|PMID:34511120|PMID:3475071|PMID:34906454|PMID:34906840|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35137788|PMID:3517112|PMID:35249492|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35480308|PMID:35535697|PMID:35568682|PMID:35741760|PMID:35753512|PMID:35913489|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36499307|PMID:36507290|PMID:36769678|PMID:36973604|PMID:37119068|PMID:3815525|PMID:4061491|PMID:4061492|PMID:4083361|PMID:484703|PMID:503269|PMID:6438436|PMID:7548065|PMID:7562961|PMID:7573037|PMID:7603991|PMID:7616128|PMID:7718019|PMID:7749829|PMID:7820934|PMID:7833932|PMID:7979249|PMID:8295321|PMID:8535447|PMID:8829662|PMID:8911609|PMID:9026534|PMID:9104431|PMID:9237502|PMID:9254862|PMID:9259195|PMID:9409298|PMID:9544745|PMID:9544746|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9698020|PMID:9763532|PMID:9767373|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:9002221 Hyperplasia ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207284 8792209 Ldlr low density lipoprotein receptor gene DOID:9003370 Dyslipidemias ISO RGD:735594 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 8792209 Ldlr low density lipoprotein receptor gene DOID:9004009 Reperfusion Injury ISO RGD:2998 D RGD:9068941 20200609 RGD PMID:17288738|REF_RGD_ID:2324630 8792209 Ldlr low density lipoprotein receptor gene DOID:9005106 Animal Toxoplasmosis ISO RGD:10864 D RGD:9068941 20200609 RGD PMID:18316222|REF_RGD_ID:5490254 8792209 Ldlr low density lipoprotein receptor gene DOID:9005369 Hepatomegaly ISO RGD:735594 D RGD:9068941 20231207 CTD CTD Direct Evidence: therapeutic PMID:37459939 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:10090473|PMID:10090484|PMID:10208479|PMID:10208489|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10532689|PMID:10559517|PMID:10634824|PMID:10657581|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10978268|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11196104|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11462246|PMID:11491306|PMID:11585102|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:12113284|PMID:12124988|PMID:12406975|PMID:12417285|PMID:12436241|PMID:12553167|PMID:12730724|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1319734|PMID:1352322|PMID:14209286|PMID:14508510|PMID:14512370|PMID:1453433|PMID:1463746|PMID:1464748|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15100232|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15359125|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15864114|PMID:15936313|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16466730|PMID:16542394|PMID:16627557|PMID:16796766|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17335829|PMID:17347910|PMID:1734910|PMID:17406740|PMID:17426749|PMID:17539906|PMID:17576681|PMID:17765246|PMID:17955342|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18503695|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19062533|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19411563|PMID:19446849|PMID:19467224|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:19717150|PMID:1978682|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20045108|PMID:20089850|PMID:20145306|PMID:20236128|PMID:2029498|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21145767|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21925044|PMID:21935675|PMID:21990180|PMID:220236128|PMID:22095935|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22461740|PMID:22487947|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23155708|PMID:2318961|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23669246|PMID:23680767|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24281370|PMID:24373485|PMID:24507775|PMID:24627126|PMID:24956927|PMID:25154303|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25637381|PMID:25647241|PMID:2569482|PMID:25741868|PMID:25741871|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26238499|PMID:26343872|PMID:26433113|PMID:26467025|PMID:26633542|PMID:26723464|PMID:26748104|PMID:26892515|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27542166|PMID:27578127|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27824480|PMID:27854218|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28235710|PMID:28349240|PMID:28379029|PMID:28391882|PMID:28458923|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28958694|PMID:28964736|PMID:28965616|PMID:2901412|PMID:29083407|PMID:2920733|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29353225|PMID:29407885|PMID:29531935|PMID:29874871|PMID:30112042|PMID:3020025|PMID:30241732|PMID:3025214 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30270055|PMID:30270076|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31727422|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32922439|PMID:32977124|PMID:33087929|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:34037665|PMID:3425583|PMID:3472763|PMID:3815525|PMID:4061492|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7894220|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8645371|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9016531|PMID:9026534|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30312929|PMID:30333156|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31727422|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32922439|PMID:32977124|PMID:33087929|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:34037665|PMID:3425583|PMID:3472763|PMID:3815525|PMID:4061492|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7894220|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8645371|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9016531|PMID:9026534|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26833332|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34906454|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26833332|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711|PMID:3020025 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32165824|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35047021|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35631530|PMID:35929461|PMID:36226792|PMID:36229376|PMID:36325061|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34176852|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34570182|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35047021|PMID:35052492|PMID:35137788|PMID:35177841|PMID:35222550|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35480308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:36105085|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36267056|PMID:36325061|PMID:36507290|PMID:36769678|PMID:36901902|PMID:36973604|PMID:37119068|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:1538685|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:1960926|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:2506353|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36499307|PMID:36507290|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:37119068|PMID:37129685|PMID:37719435|PMID:37848354|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991 8792209 Ldlr low density lipoprotein receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426 8792209 Ldlr low density lipoprotein receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2998 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:18054320|REF_RGD_ID:2324626 8792209 Ldlr low density lipoprotein receptor gene DOID:9006599 Hypertriglyceridemia ISO RGD:2998 D RGD:9068941 20200609 RGD PMID:27378433|PMID:28469073|REF_RGD_ID:12910100|REF_RGD_ID:12910104 8792209 Ldlr low density lipoprotein receptor gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:10864 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8792209 Ldlr low density lipoprotein receptor gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:10864 D RGD:9068941 20200609 RGD protein:decreased expression: liver (rat) PMID:20028367|REF_RGD_ID:21410185 8792209 Ldlr low density lipoprotein receptor gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:2998 D RGD:9068941 20200609 RGD protein:decreased expression: liver (rat) PMID:20028367|REF_RGD_ID:21410185 8792209 Ldlr low density lipoprotein receptor gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:735594 D RGD:9068941 20200609 RGD protein:decreased expression: liver (rat) PMID:20028367|REF_RGD_ID:21410185 8792209 Ldlr low density lipoprotein receptor gene DOID:9007096 Stroke ISO RGD:735594 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Stroke PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:34906454|PMID:8882879|PMID:9157944|PMID:9484998 8792209 Ldlr low density lipoprotein receptor gene DOID:9007096 Stroke susceptibility ISO RGD:735594 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs2738446, rs2738450) (human) PMID:19589204|REF_RGD_ID:5490232 8792209 Ldlr low density lipoprotein receptor gene DOID:9007234 Carotid Artery Dissection, Internal ISO RGD:735594 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Internal carotid artery dissection PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:34906454|PMID:8882879|PMID:9157944|PMID:9484998 8792209 Ldlr low density lipoprotein receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735594 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36108984 8792209 Ldlr low density lipoprotein receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:735594 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte PMID:19811272|REF_RGD_ID:5490253 8792209 Ldlr low density lipoprotein receptor gene DOID:9348 carotid artery dissection ISO RGD:735594 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carotid artery dissection PMID:10782930|PMID:10978268|PMID:12837857|PMID:1301956|PMID:16183066|PMID:16250003|PMID:17094996|PMID:17765246|PMID:18677035|PMID:19318025|PMID:20506408|PMID:2088165|PMID:21310417|PMID:21475731|PMID:21722902|PMID:22390909|PMID:22698793|PMID:2318961|PMID:23375686|PMID:24033266|PMID:25741868|PMID:27765764|PMID:28492532|PMID:29261184|PMID:29399563|PMID:31345425|PMID:3263645|PMID:34906454|PMID:8882879|PMID:9157944|PMID:9484998 8792209 Ldlr low density lipoprotein receptor gene DOID:9452 steatotic liver disease ISO RGD:10864 D RGD:9068941 20220825 MouseDO OMIM:228100 8792209 Ldlr low density lipoprotein receptor gene DOID:9452 steatotic liver disease ISO RGD:2998 D RGD:9068941 20211112 RGD PMID:29459263|REF_RGD_ID:13703129 8792209 Ldlr low density lipoprotein receptor gene DOID:9452 steatotic liver disease ISO RGD:735594 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:25554529|PMID:36108984 8792209 Ldlr low density lipoprotein receptor gene DOID:9970 obesity ISO RGD:735594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25554529 8792231 Lrrc43 leucine rich repeat containing 43 gene DOID:0080600 COVID-19 ISO RGD:1602639 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8792231 Lrrc43 leucine rich repeat containing 43 gene DOID:630 genetic disease ISO RGD:1602639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792252 Rnaseh2b ribonuclease H2 subunit B gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1606240 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:16199547|PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 8792252 Rnaseh2b ribonuclease H2 subunit B gene DOID:0060041 autism spectrum disorder ISO RGD:1606240 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 8792252 Rnaseh2b ribonuclease H2 subunit B gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1606240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8792252 Rnaseh2b ribonuclease H2 subunit B gene DOID:1059 intellectual disability ISO RGD:1606240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8792252 Rnaseh2b ribonuclease H2 subunit B gene DOID:1969 cerebral palsy ISO RGD:1606240 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 8792252 Rnaseh2b ribonuclease H2 subunit B gene DOID:630 genetic disease ISO RGD:1606240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8792252 Rnaseh2b ribonuclease H2 subunit B gene DOID:893 Wilson disease ISO RGD:1606240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 8792252 Rnaseh2b ribonuclease H2 subunit B gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1606240 D RGD:7240710 20180130 OMIM 8792252 Rnaseh2b ribonuclease H2 subunit B gene DOID:9003907 Aicardi-Goutieres Syndrome 2 ISO RGD:1606240 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:24183309|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25500883|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26846091|PMID:26860721|PMID:26903602|PMID:27009121|PMID:27943079|PMID:28332073|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:30889214|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:32488064|PMID:33084218|PMID:33258288|PMID:33482855|PMID:33967934|PMID:9536098 8792252 Rnaseh2b ribonuclease H2 subunit B gene DOID:9006534 Nervous System Malformations ISO RGD:1606240 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16845400|PMID:17846997|PMID:18069026|PMID:18414213|PMID:18754903|PMID:19015152|PMID:19034401|PMID:19694776|PMID:20131292|PMID:21177854|PMID:21177858|PMID:22149989|PMID:23165795|PMID:24033266|PMID:25243380|PMID:25274781|PMID:25343331|PMID:25604658|PMID:25614871|PMID:25741868|PMID:26182405|PMID:26467025|PMID:26846091|PMID:26903602|PMID:27009121|PMID:28492532|PMID:28762473|PMID:29030706|PMID:29239743|PMID:29691679|PMID:30111349|PMID:30223285|PMID:30609409|PMID:30826161|PMID:31130284|PMID:31130681|PMID:31367981|PMID:31529068|PMID:31920009|PMID:31980526|PMID:32258229|PMID:32404165|PMID:33258288|PMID:33967934 8792252 Rnaseh2b ribonuclease H2 subunit B gene DOID:9008086 Developmental Disabilities ISO RGD:1606240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8792267 Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 gene DOID:0050777 Joubert syndrome ISO RGD:1604564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders 8792267 Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 gene DOID:630 genetic disease ISO RGD:1604564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8792317 Sfrp5 secreted frizzled related protein 5 gene DOID:630 genetic disease ISO RGD:1321235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792317 Sfrp5 secreted frizzled related protein 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 8792317 Sfrp5 secreted frizzled related protein 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1321235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 8792325 Dhx35 DEAH-box helicase 35 gene DOID:2234 focal epilepsy ISO RGD:1322480 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8792325 Dhx35 DEAH-box helicase 35 gene DOID:630 genetic disease ISO RGD:1322480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792355 Tyro3 TYRO3 protein tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:11467 D RGD:9068941 20200609 RGD PMID:15733062|REF_RGD_ID:1580531 8792355 Tyro3 TYRO3 protein tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:736404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15733062 8792355 Tyro3 TYRO3 protein tyrosine kinase gene DOID:2717 Bloom syndrome ISO RGD:736404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8792355 Tyro3 TYRO3 protein tyrosine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8792355 Tyro3 TYRO3 protein tyrosine kinase gene DOID:630 genetic disease ISO RGD:736404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792355 Tyro3 TYRO3 protein tyrosine kinase gene DOID:9005851 46, XX Disorders of Sex Development ISO RGD:736404 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: 46,XX disorder of sex development 8792355 Tyro3 TYRO3 protein tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:736404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8792398 C1qtnf6 C1q and TNF related 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8792398 C1qtnf6 C1q and TNF related 6 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316024 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8792398 C1qtnf6 C1q and TNF related 6 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8792398 C1qtnf6 C1q and TNF related 6 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8792398 C1qtnf6 C1q and TNF related 6 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:1307057 D RGD:9068941 20230330 RGD PMID:35322553|REF_RGD_ID:242905190 8792398 C1qtnf6 C1q and TNF related 6 gene DOID:630 genetic disease ISO RGD:1316024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792398 C1qtnf6 C1q and TNF related 6 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1316024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:0050860 colorectal adenoma ISO RGD:1345581 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1345581 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345581 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:1107 esophageal carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:esophagus (human) PMID:31964418|REF_RGD_ID:153344516 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:2526 prostate adenocarcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNALincreased expression:prostate gland (human) PMID:31964418|REF_RGD_ID:153344516 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:3948 adrenocortical carcinoma ameliorates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:3963 thyroid gland carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:thyroid gland (human) PMID:31964418|REF_RGD_ID:153344516 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:4006 bladder urothelial carcinoma disease_progression ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:urinary bladder (human) PMID:31964418|REF_RGD_ID:153344516 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:4450 renal cell carcinoma ISO RGD:1345581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17437058|PMID:25401301 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:6039 uveal melanoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:uvea (human) PMID:31964418|REF_RGD_ID:153344516 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:630 genetic disease ISO RGD:1345581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1345581 D RGD:9068941 20220818 RGD mRNA:increased expression:liver (human) PMID:31964418|REF_RGD_ID:153344516 8792434 Birc7 baculoviral IAP repeat containing 7 gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:1345581 D RGD:9068941 20220825 RGD mRNA:increased expression:pleura, lung (human) PMID:17253596|REF_RGD_ID:153344528 8792442 LOC102011124 olfactory receptor 2K2 gene DOID:630 genetic disease ISO RGD:1342486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792445 Ednra endothelin receptor type A gene DOID:0050848 obstructive sleep apnea ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:19358946|REF_RGD_ID:4145067 8792445 Ednra endothelin receptor type A gene DOID:0050848 obstructive sleep apnea ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083432 8792445 Ednra endothelin receptor type A gene DOID:0050848 obstructive sleep apnea ISO RGD:737537 D RGD:9068941 20200609 RGD DNA:polymorphism: :-231G>A (human) PMID:20083432|REF_RGD_ID:4892306 8792445 Ednra endothelin receptor type A gene DOID:0050855 renal fibrosis ISO RGD:2535 D RGD:9068941 20200609 RGD associated with Ureteral obstruction;mRNA:increased expression:kidney PMID:11078391|REF_RGD_ID:7244179 8792445 Ednra endothelin receptor type A gene DOID:0060365 mandibulofacial dysostosis with alopecia ISO RGD:737537 D RGD:7240710 20180130 OMIM 8792445 Ednra endothelin receptor type A gene DOID:0060365 mandibulofacial dysostosis with alopecia ISO RGD:737537 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia PMID:16116593|PMID:20583178|PMID:25741868|PMID:25772936|PMID:28492532 8792445 Ednra endothelin receptor type A gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:737537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 8792445 Ednra endothelin receptor type A gene DOID:10247 pleurisy ISO RGD:737538 D RGD:9068941 20200609 RGD PMID:15107459|REF_RGD_ID:4892325 8792445 Ednra endothelin receptor type A gene DOID:10762 portal hypertension ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:17214938|REF_RGD_ID:4892595 8792445 Ednra endothelin receptor type A gene DOID:10763 hypertension ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:16157796|REF_RGD_ID:1581830 8792445 Ednra endothelin receptor type A gene DOID:10763 hypertension ISO RGD:2535 D RGD:9068941 20200609 RGD associated with Uremia PMID:20144075|REF_RGD_ID:4892284 8792445 Ednra endothelin receptor type A gene DOID:10763 hypertension ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12600921 8792445 Ednra endothelin receptor type A gene DOID:10763 hypertension ISO RGD:737537 D RGD:9068941 20200609 RGD PMID:14616768|REF_RGD_ID:1580950 8792445 Ednra endothelin receptor type A gene DOID:1184 nephrotic syndrome ISO RGD:2535 D RGD:9068941 20200609 RGD mRNA:increased expression:Glomerulus PMID:12972712|REF_RGD_ID:7244242 8792445 Ednra endothelin receptor type A gene DOID:12583 velocardiofacial syndrome ISO RGD:737538 D RGD:9068941 20220825 MouseDO OMIM:192430 8792445 Ednra endothelin receptor type A gene DOID:1682 congenital heart disease ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9811577 8792445 Ednra endothelin receptor type A gene DOID:1875 impotence ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:17420087|REF_RGD_ID:2292142 8792445 Ednra endothelin receptor type A gene DOID:1875 impotence ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18823320 8792445 Ednra endothelin receptor type A gene DOID:2841 asthma ISO RGD:737538 D RGD:9068941 20200609 RGD PMID:17448648|PMID:18632188|REF_RGD_ID:4892288|REF_RGD_ID:4892322 8792445 Ednra endothelin receptor type A gene DOID:5844 myocardial infarction ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:12524016|REF_RGD_ID:1580948 8792445 Ednra endothelin receptor type A gene DOID:6000 congestive heart failure ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28095452 8792445 Ednra endothelin receptor type A gene DOID:630 genetic disease ISO RGD:737537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792445 Ednra endothelin receptor type A gene DOID:6364 migraine ISO RGD:737537 D RGD:7240710 20230505 OMIM 8792445 Ednra endothelin receptor type A gene DOID:6364 migraine ISO RGD:737537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine, resistance to PMID:11376172|PMID:23058564 8792445 Ednra endothelin receptor type A gene DOID:6432 pulmonary hypertension ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:15243299|PMID:20531217|REF_RGD_ID:1580949|REF_RGD_ID:4892283 8792445 Ednra endothelin receptor type A gene DOID:6432 pulmonary hypertension ISO RGD:737537 D RGD:9068941 20200609 RGD PMID:18506008|PMID:20562228|REF_RGD_ID:4144877|REF_RGD_ID:4892320 8792445 Ednra endothelin receptor type A gene DOID:850 lung disease severity ISO RGD:737537 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:20028935|REF_RGD_ID:4892286 8792445 Ednra endothelin receptor type A gene DOID:9000918 Disease Progression ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194819 8792445 Ednra endothelin receptor type A gene DOID:9000965 Neoplasm Metastasis ISO RGD:737538 D RGD:9068941 20200609 RGD associated with Bladder Neoplasms PMID:21183790|REF_RGD_ID:4892282 8792445 Ednra endothelin receptor type A gene DOID:9002165 Diabetic Nephropathies ISO RGD:2535 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21191784|REF_RGD_ID:4892326 8792445 Ednra endothelin receptor type A gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:737538 D RGD:9068941 20200609 RGD PMID:9649553|REF_RGD_ID:734910 8792445 Ednra endothelin receptor type A gene DOID:9002762 Ovarian Neoplasms ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194819 8792445 Ednra endothelin receptor type A gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17032313 8792445 Ednra endothelin receptor type A gene DOID:9005372 Inflammation ISO RGD:737538 D RGD:9068941 20200609 RGD PMID:18632188|REF_RGD_ID:4892288 8792445 Ednra endothelin receptor type A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:20690982|REF_RGD_ID:4892336 8792445 Ednra endothelin receptor type A gene DOID:9007096 Stroke ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:17597600|REF_RGD_ID:4892584 8792445 Ednra endothelin receptor type A gene DOID:9007096 Stroke ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8792445 Ednra endothelin receptor type A gene DOID:9007102 Myocardial Ischemia ISO RGD:737537 D RGD:9068941 20200609 RGD PMID:14729387|REF_RGD_ID:1580946 8792445 Ednra endothelin receptor type A gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:12799311|REF_RGD_ID:1581841 8792445 Ednra endothelin receptor type A gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:18586023|REF_RGD_ID:4892580 8792445 Ednra endothelin receptor type A gene DOID:9008091 Optic Nerve Injuries ISO RGD:2535 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18600494|REF_RGD_ID:4892579 8792445 Ednra endothelin receptor type A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17294360|PMID:9811577 8792445 Ednra endothelin receptor type A gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10693666|PMID:9473106 8792445 Ednra endothelin receptor type A gene DOID:9279 hyperhomocysteinemia ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:19371338|REF_RGD_ID:4892572 8792445 Ednra endothelin receptor type A gene DOID:9352 type 2 diabetes mellitus ISO RGD:2535 D RGD:9068941 20200609 RGD protein:increased expression:mesenteric artery PMID:19286964|REF_RGD_ID:2313280 8792445 Ednra endothelin receptor type A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 8792445 Ednra endothelin receptor type A gene DOID:9675 pulmonary emphysema ISO RGD:2535 D RGD:9068941 20200609 RGD PMID:19897563|REF_RGD_ID:4892307 8792465 Rbx1 ring-box 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1318229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8792465 Rbx1 ring-box 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1318229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8792465 Rbx1 ring-box 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1318229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 8792465 Rbx1 ring-box 1 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1318229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 8792465 Rbx1 ring-box 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1318229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 8792474 Cibar2 CBY1 interacting BAR domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1603858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8792474 Cibar2 CBY1 interacting BAR domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1603858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8792474 Cibar2 CBY1 interacting BAR domain containing 2 gene DOID:630 genetic disease ISO RGD:1603858 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792474 Cibar2 CBY1 interacting BAR domain containing 2 gene DOID:8778 Crohn's disease ISO RGD:1603858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756 8792510 Fbxo46 F-box protein 46 gene DOID:630 genetic disease ISO RGD:1318136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792532 Lhx5 LIM homeobox 5 gene DOID:630 genetic disease ISO RGD:732692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792541 Prdm15 PR/SET domain 15 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8792541 Prdm15 PR/SET domain 15 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8792541 Prdm15 PR/SET domain 15 gene DOID:630 genetic disease ISO RGD:1320736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792541 Prdm15 PR/SET domain 15 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320736 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8792541 Prdm15 PR/SET domain 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8792541 Prdm15 PR/SET domain 15 gene DOID:9263 homocystinuria ISO RGD:1320736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8792541 Prdm15 PR/SET domain 15 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320736 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8792571 Sp7 Sp7 transcription factor gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:736995 D RGD:7240710 20180130 OMIM 8792571 Sp7 Sp7 transcription factor gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:736995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 PMID:20579626|PMID:25741868|PMID:28492532|PMID:29382611 8792571 Sp7 Sp7 transcription factor gene DOID:12347 osteogenesis imperfecta ISO RGD:736995 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 8792571 Sp7 Sp7 transcription factor gene DOID:1712 aortic valve stenosis severity ISO RGD:736995 D RGD:9068941 20230420 RGD PMID:23578508|REF_RGD_ID:267010069 8792571 Sp7 Sp7 transcription factor gene DOID:630 genetic disease ISO RGD:736995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8792584 Vsig10 V-set and immunoglobulin domain containing 10 gene DOID:630 genetic disease ISO RGD:1607028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1345690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0080690 RASopathy ISO RGD:1345690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1345690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0110651 long QT syndrome 10 ISO RGD:1345690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0111971 immunodeficiency 18 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0111972 immunodeficiency 19 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:0111973 immunodeficiency 17 ISO RGD:1345690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1345690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:630 genetic disease ISO RGD:1345690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8792603 Cxcr5 C-X-C motif chemokine receptor 5 gene DOID:9007661 Dwarfism ISO RGD:1345690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8792615 Cylc1 cylicin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8792615 Cylc1 cylicin 1 gene DOID:12849 autistic disorder ISO RGD:1348149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8792615 Cylc1 cylicin 1 gene DOID:630 genetic disease ISO RGD:1348149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792628 Znf268 zinc finger protein 268 gene DOID:630 genetic disease ISO RGD:1347350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792629 Paip2 poly(A) binding protein interacting protein 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8792629 Paip2 poly(A) binding protein interacting protein 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8792629 Paip2 poly(A) binding protein interacting protein 2 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1312240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8792629 Paip2 poly(A) binding protein interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792629 Paip2 poly(A) binding protein interacting protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8792629 Paip2 poly(A) binding protein interacting protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8792629 Paip2 poly(A) binding protein interacting protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8792637 Tarbp2 TARBP2 subunit of RISC loading complex gene DOID:630 genetic disease ISO RGD:1316539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792637 Tarbp2 TARBP2 subunit of RISC loading complex gene DOID:9000027 Microsatellite Instability ISO RGD:1316539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 8792637 Tarbp2 TARBP2 subunit of RISC loading complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8792663 Trappc9 trafficking protein particle complex subunit 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1605926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8792663 Trappc9 trafficking protein particle complex subunit 9 gene DOID:0081098 autosomal recessive intellectual developmental disorder 13 ISO RGD:1605926 D RGD:7240710 20180130 OMIM 8792663 Trappc9 trafficking protein particle complex subunit 9 gene DOID:0081098 autosomal recessive intellectual developmental disorder 13 ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 13 | ClinVar Annotator: match by term: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | ClinVar Annotator: match by term: TRAPPC9-related condition PMID:17120046|PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:20004765|PMID:21629298|PMID:22549410|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29187737|PMID:29610177|PMID:33403770 8792663 Trappc9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISO RGD:1605926 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532 8792663 Trappc9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISO RGD:1605926 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29610177 8792663 Trappc9 trafficking protein particle complex subunit 9 gene DOID:1059 intellectual disability ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25533962|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29610177 8792663 Trappc9 trafficking protein particle complex subunit 9 gene DOID:5419 schizophrenia ISO RGD:1605926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8792663 Trappc9 trafficking protein particle complex subunit 9 gene DOID:630 genetic disease ISO RGD:1605926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:25533962|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737|PMID:29610177|PMID:33403770 8792663 Trappc9 trafficking protein particle complex subunit 9 gene DOID:9006534 Nervous System Malformations ISO RGD:1605926 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:2000476|PMID:20004763|PMID:20004764|PMID:20004765|PMID:21629298|PMID:25741868|PMID:28492532|PMID:28940097 8792700 Cab39l calcium binding protein 39 like gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8792700 Cab39l calcium binding protein 39 like gene DOID:1059 intellectual disability ISO RGD:1319011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8792700 Cab39l calcium binding protein 39 like gene DOID:630 genetic disease ISO RGD:1319011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792736 Ell elongation factor for RNA polymerase II gene DOID:630 genetic disease ISO RGD:1322410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792736 Ell elongation factor for RNA polymerase II gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8792751 C1ql2 complement C1q like 2 gene DOID:630 genetic disease ISO RGD:1350440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792758 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8792758 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8792758 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:12849 autistic disorder ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8792758 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8792758 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:630 genetic disease ISO RGD:69042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792758 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:69042 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8792758 Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8792792 Defb128 defensin beta 128 gene DOID:630 genetic disease ISO RGD:1352295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792792 Defb128 defensin beta 128 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8792797 Tmem9b TMEM9 domain family member B gene DOID:630 genetic disease ISO RGD:1321873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792815 Rtkn rhotekin gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1354382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8792815 Rtkn rhotekin gene DOID:543 dystonia ISO RGD:1354382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8792815 Rtkn rhotekin gene DOID:630 genetic disease ISO RGD:1354382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792815 Rtkn rhotekin gene DOID:684 hepatocellular carcinoma ISO RGD:1354382 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:27922690|REF_RGD_ID:19165144 8792815 Rtkn rhotekin gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1354382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8792843 Ppp1r14d protein phosphatase 1 regulatory inhibitor subunit 14D gene DOID:2717 Bloom syndrome ISO RGD:1350290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8792843 Ppp1r14d protein phosphatase 1 regulatory inhibitor subunit 14D gene DOID:630 genetic disease ISO RGD:1350290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792843 Ppp1r14d protein phosphatase 1 regulatory inhibitor subunit 14D gene DOID:9256 colorectal cancer ISO RGD:1350290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8792852 Fam151a family with sequence similarity 151 member A gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1603341 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs11206394) G>C (human) PMID:27354594|REF_RGD_ID:152177496 8792852 Fam151a family with sequence similarity 151 member A gene DOID:630 genetic disease ISO RGD:1603341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792864 Eif3m eukaryotic translation initiation factor 3 subunit M gene DOID:1059 intellectual disability ISO RGD:1607072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8792864 Eif3m eukaryotic translation initiation factor 3 subunit M gene DOID:630 genetic disease ISO RGD:1607072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792891 Usf3 upstream transcription factor family member 3 gene DOID:0081250 CIC-rearranged sarcoma ISO RGD:1602969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CIC-DUX Sarcoma 8792891 Usf3 upstream transcription factor family member 3 gene DOID:630 genetic disease ISO RGD:1602969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792901 Lztfl1 leucine zipper transcription factor like 1 gene DOID:0080600 COVID-19 ISO RGD:1315352 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32558485|PMID:32998156 8792901 Lztfl1 leucine zipper transcription factor like 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1315352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:23692385 8792901 Lztfl1 leucine zipper transcription factor like 1 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:1315352 D RGD:7240710 20180130 OMIM 8792901 Lztfl1 leucine zipper transcription factor like 1 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:1315352 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 | ClinVar Annotator: match by term: LZTFL1-related condition PMID:22510444|PMID:23692385|PMID:25741868|PMID:28492532 8792901 Lztfl1 leucine zipper transcription factor like 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1315352 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8792901 Lztfl1 leucine zipper transcription factor like 1 gene DOID:11162 respiratory failure ISO RGD:1315352 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485 8792901 Lztfl1 leucine zipper transcription factor like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315352 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 8792901 Lztfl1 leucine zipper transcription factor like 1 gene DOID:630 genetic disease ISO RGD:1315352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8792901 Lztfl1 leucine zipper transcription factor like 1 gene DOID:9001827 Critical Illness ISO RGD:1315352 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32558485|PMID:32998156 8792901 Lztfl1 leucine zipper transcription factor like 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1315352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8792921 Ehbp1l1 EH domain binding protein 1 like 1 gene DOID:1059 intellectual disability ISO RGD:1342687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8792921 Ehbp1l1 EH domain binding protein 1 like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8792921 Ehbp1l1 EH domain binding protein 1 like 1 gene DOID:2746 glycogen storage disease V ISO RGD:1342687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8792921 Ehbp1l1 EH domain binding protein 1 like 1 gene DOID:3070 high grade glioma ISO RGD:1342687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8792921 Ehbp1l1 EH domain binding protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1342687 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8792921 Ehbp1l1 EH domain binding protein 1 like 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1342687 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8792921 Ehbp1l1 EH domain binding protein 1 like 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1342687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8792921 Ehbp1l1 EH domain binding protein 1 like 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1342687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 8792967 LOC102006248 olfactory receptor 1B1 gene DOID:630 genetic disease ISO RGD:1342799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0060260 ptosis ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ptosis PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:28492532|PMID:30440138|PMID:30541864 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0060470 salt and pepper syndrome ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:23161826|PMID:23708187|PMID:25418537|PMID:25741868|PMID:26989088|PMID:28492532 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1353044 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:23161826|PMID:25741868|PMID:26989088|PMID:28492532 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353044 D RGD:7240710 20180130 OMIM 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 | ClinVar Annotator: match by term: SYNGAP1-related condition | ClinVar Annotator: match by term: SYNGAP1-related developmental and epileptic encephalopathy | ClinVar Annotator: match by term: SYNGAP1-related encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19196676|PMID:20683986|PMID:21237447|PMID:21376300|PMID:22692543|PMID:23161826|PMID:23687080|PMID:23708187|PMID:24690944|PMID:25167861|PMID:25186178|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25363768|PMID:25418537|PMID:25533962|PMID:25640679|PMID:25693842|PMID:25741868|PMID:25852444|PMID:26079862|PMID:26467025|PMID:26795593|PMID:26989088|PMID:27159028|PMID:27334371|PMID:28135719|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28576131|PMID:28600779|PMID:28708303|PMID:29390993|PMID:29758562|PMID:29778030|PMID:30440138|PMID:30455457|PMID:30541864|PMID:30564305|PMID:30577886|PMID:30581057|PMID:30901256|PMID:31349857|PMID:31395010|PMID:31554424|PMID:31981491|PMID:32238909|PMID:32730690|PMID:33308442|PMID:33639450|PMID:34782754|PMID:9536098 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:0081181 autosomal recessive intellectual developmental disorder 5 ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5 PMID:23161826|PMID:23708187|PMID:25741868|PMID:26989088|PMID:27334371|PMID:28492532 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:1059 intellectual disability ISO RGD:1353044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21237447|PMID:23161826|PMID:23708187|PMID:25167861|PMID:25741868|PMID:26079862|PMID:26989088|PMID:28492532|PMID:28554332|PMID:30541864|PMID:30581057 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:12849 autistic disorder ISO RGD:1353044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531469 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:1826 epilepsy ISO RGD:1353044 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:5419 schizophrenia ISO RGD:1617329 D RGD:9068941 20220825 MouseDO OMIM:181500 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19196676|PMID:21237447|PMID:21376300|PMID:22692543|PMID:23033978|PMID:23161826|PMID:23708187|PMID:24690944|PMID:25326635|PMID:25356970|PMID:25418537|PMID:25741868|PMID:25852444|PMID:26467025|PMID:26795593|PMID:26989088|PMID:27334371|PMID:28492532|PMID:30541864|PMID:31349857|PMID:31395010|PMID:31554424|PMID:32730690|PMID:34782754|PMID:9581761 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1353044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:16199547|PMID:21237447|PMID:23161826|PMID:23708187|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26989088|PMID:28492532|PMID:28708303|PMID:29778030|PMID:30541864 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1353044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8792970 Syngap1 synaptic Ras GTPase activating protein 1 gene DOID:9008582 Developmental Disease ISO RGD:1353044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8793018 Mrpl34 mitochondrial ribosomal protein L34 gene DOID:630 genetic disease ISO RGD:1345591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793024 Defb116 defensin beta 116 gene DOID:630 genetic disease ISO RGD:1344787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793029 Cpsf4 cleavage and polyadenylation specific factor 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8793029 Cpsf4 cleavage and polyadenylation specific factor 4 gene DOID:630 genetic disease ISO RGD:736724 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1315433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1315433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1315433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532|PMID:32581362 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1315433 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:32581362 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1315433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532|PMID:30182498|PMID:32581362 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:11782 astigmatism ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astigmatism 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:1227 neutropenia ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neutropenia 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:13636 Fanconi anemia ISO RGD:1315433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:14780 KBG syndrome ISO RGD:1315433 D RGD:7240710 20180130 OMIM 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:14780 KBG syndrome ISO RGD:1315433 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies PMID:15378538|PMID:15523620|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19920853|PMID:21782149|PMID:23463723|PMID:23494856|PMID:24033266|PMID:24088041|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25464108|PMID:25533962|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26633545|PMID:27055092|PMID:27605097|PMID:27651234|PMID:27667800|PMID:27900361|PMID:28449295|PMID:28492532|PMID:28529015|PMID:28708303|PMID:28976722|PMID:29100083|PMID:29258554|PMID:29517769|PMID:29565525|PMID:30182498|PMID:30202406|PMID:30919572|PMID:30945278|PMID:31191201|PMID:31337854|PMID:31602316|PMID:31607427|PMID:31690835|PMID:32124548|PMID:32222090|PMID:32238909|PMID:32581362|PMID:33144682|PMID:33955014|PMID:34012832|PMID:35330407|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914|PMID:9536098 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:1826 epilepsy ISO RGD:1315433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:630 genetic disease ISO RGD:1315433 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15523620|PMID:15955779|PMID:17576681|PMID:19344873|PMID:21782149|PMID:24088041|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25413698|PMID:25464108|PMID:25473036|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26615199|PMID:26633542|PMID:26633545|PMID:27055092|PMID:27605097|PMID:27651234|PMID:27667800|PMID:28492532|PMID:28529015|PMID:28600779|PMID:29258554|PMID:29517769|PMID:30182498|PMID:30919572|PMID:31191201|PMID:32124548|PMID:32581362|PMID:33955014|PMID:35330407|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914|PMID:9536098 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1315433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17986521 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9002914 Familial Sudden Death ISO RGD:1315433 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25413698|PMID:25741868|PMID:31191201 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9006534 Nervous System Malformations ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:32581362 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1315433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21782149|PMID:24088041|PMID:25125236|PMID:25413698|PMID:25464108|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27605097|PMID:27667800|PMID:28492532|PMID:31607427|PMID:32124548|PMID:33955014|PMID:35330407|PMID:35682590 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9008582 Developmental Disease ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8793056 Ankrd11 ankyrin repeat domain containing 11 gene DOID:9009062 Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis ISO RGD:1315433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis PMID:21782149|PMID:25741868|PMID:26467025|PMID:28492532 8793106 Adgrf5 adhesion G protein-coupled receptor F5 gene DOID:630 genetic disease ISO RGD:1347693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793141 N4bp2l2 NEDD4 binding protein 2 like 2 gene DOID:37 skin disease ISO RGD:1603408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8793141 N4bp2l2 NEDD4 binding protein 2 like 2 gene DOID:630 genetic disease ISO RGD:1603408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793141 N4bp2l2 NEDD4 binding protein 2 like 2 gene DOID:9007661 Dwarfism ISO RGD:1603408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8793141 N4bp2l2 NEDD4 binding protein 2 like 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1603408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8793157 Tubb4b tubulin beta 4B class IVb gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8793157 Tubb4b tubulin beta 4B class IVb gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1601774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8793157 Tubb4b tubulin beta 4B class IVb gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8793157 Tubb4b tubulin beta 4B class IVb gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1601774 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8793157 Tubb4b tubulin beta 4B class IVb gene DOID:0081097 Rafiq syndrome ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8793157 Tubb4b tubulin beta 4B class IVb gene DOID:0110980 Joubert syndrome 1 ISO RGD:1601774 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8793157 Tubb4b tubulin beta 4B class IVb gene DOID:0112240 Leber congenital amaurosis with early-onset deafness ISO RGD:1601774 D RGD:7240710 20190315 OMIM 8793157 Tubb4b tubulin beta 4B class IVb gene DOID:0112240 Leber congenital amaurosis with early-onset deafness ISO RGD:1601774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis with early-onset deafness PMID:25741868|PMID:29198720 8793157 Tubb4b tubulin beta 4B class IVb gene DOID:1826 epilepsy ISO RGD:1601774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8793157 Tubb4b tubulin beta 4B class IVb gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1601774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8793157 Tubb4b tubulin beta 4B class IVb gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1601774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8793174 Stk32a serine/threonine kinase 32A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8793174 Stk32a serine/threonine kinase 32A gene DOID:630 genetic disease ISO RGD:1318050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793174 Stk32a serine/threonine kinase 32A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8793174 Stk32a serine/threonine kinase 32A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8793200 Brf2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1318806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8793200 Brf2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1318806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8793200 Brf2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:10283 prostate cancer ISO RGD:1318806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8793200 Brf2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:607 paraplegia ISO RGD:1318806 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8793200 Brf2 BRF2 RNA polymerase III transcription initiation factor subunit gene DOID:630 genetic disease ISO RGD:1318806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793209 Pde3a phosphodiesterase 3A gene DOID:0060903 thrombosis ISO RGD:734436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17482796 8793209 Pde3a phosphodiesterase 3A gene DOID:0111247 hypertension and brachydactyly syndrome ISO RGD:734436 D RGD:7240710 20180130 OMIM 8793209 Pde3a phosphodiesterase 3A gene DOID:0111247 hypertension and brachydactyly syndrome ISO RGD:734436 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bilginturan syndrome PMID:25741868|PMID:25961942|PMID:28492532|PMID:4774535 8793209 Pde3a phosphodiesterase 3A gene DOID:10283 prostate cancer ISO RGD:734436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8793209 Pde3a phosphodiesterase 3A gene DOID:5844 myocardial infarction ISO RGD:734436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 8793209 Pde3a phosphodiesterase 3A gene DOID:630 genetic disease ISO RGD:734436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25961942|PMID:28492532|PMID:4774535 8793209 Pde3a phosphodiesterase 3A gene DOID:6432 pulmonary hypertension ISO RGD:61942 D RGD:9068941 20200609 RGD mRNA:increased expression:pulmonary artery PMID:12466227|REF_RGD_ID:1582528 8793209 Pde3a phosphodiesterase 3A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:61942 D RGD:9068941 20200609 RGD PMID:12834273|REF_RGD_ID:2312523 8793209 Pde3a phosphodiesterase 3A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61942 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mesenteric artery PMID:12793980|REF_RGD_ID:2300416 8793209 Pde3a phosphodiesterase 3A gene DOID:9007096 Stroke ISO RGD:734436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8793209 Pde3a phosphodiesterase 3A gene DOID:9970 obesity ISO RGD:61942 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:9648839|REF_RGD_ID:2300415 8793229 Defb110 defensin beta 110 gene DOID:630 genetic disease ISO RGD:1348391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793239 Phlda3 pleckstrin homology like domain family A member 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8793239 Phlda3 pleckstrin homology like domain family A member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8793239 Phlda3 pleckstrin homology like domain family A member 3 gene DOID:5844 myocardial infarction ISO RGD:1321441 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351043 8793239 Phlda3 pleckstrin homology like domain family A member 3 gene DOID:630 genetic disease ISO RGD:1321441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793239 Phlda3 pleckstrin homology like domain family A member 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321441 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8793239 Phlda3 pleckstrin homology like domain family A member 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1321441 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351043 8793239 Phlda3 pleckstrin homology like domain family A member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8793245 Rnf169 ring finger protein 169 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602283 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8793245 Rnf169 ring finger protein 169 gene DOID:1059 intellectual disability ISO RGD:1602283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8793245 Rnf169 ring finger protein 169 gene DOID:630 genetic disease ISO RGD:1602283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793256 Zgrf1 zinc finger GRF-type containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1602323 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:27120335 8793256 Zgrf1 zinc finger GRF-type containing 1 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1602323 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:25741868 8793256 Zgrf1 zinc finger GRF-type containing 1 gene DOID:0111275 speech-language disorder-1 ISO RGD:1602323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:27120335 8793256 Zgrf1 zinc finger GRF-type containing 1 gene DOID:12271 aniridia ISO RGD:1602323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 8793256 Zgrf1 zinc finger GRF-type containing 1 gene DOID:630 genetic disease ISO RGD:1602323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793319 Med16 mediator complex subunit 16 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8793319 Med16 mediator complex subunit 16 gene DOID:289 endometriosis ISO RGD:1317518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8793319 Med16 mediator complex subunit 16 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1317518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 8793319 Med16 mediator complex subunit 16 gene DOID:5339 cyclic hematopoiesis ISO RGD:1317518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8793319 Med16 mediator complex subunit 16 gene DOID:630 genetic disease ISO RGD:1317518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793346 Cnot6l CCR4-NOT transcription complex subunit 6 like gene DOID:630 genetic disease ISO RGD:1319296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793365 Rpn2 ribophorin II gene DOID:2234 focal epilepsy ISO RGD:732277 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8793365 Rpn2 ribophorin II gene DOID:5212 congenital disorder of glycosylation ISO RGD:732277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 8793365 Rpn2 ribophorin II gene DOID:630 genetic disease ISO RGD:732277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8793365 Rpn2 ribophorin II gene DOID:9002304 Prostatic Neoplasms ISO RGD:732277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8793365 Rpn2 ribophorin II gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:732277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 8793393 Sh3bgrl SH3 domain binding glutamate rich protein like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8793393 Sh3bgrl SH3 domain binding glutamate rich protein like gene DOID:12849 autistic disorder ISO RGD:1352415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8793401 Ppp4r3a protein phosphatase 4 regulatory subunit 3A gene DOID:0080054 achondrogenesis type IA ISO RGD:1319189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8793424 Gpx8 glutathione peroxidase 8 (putative) gene DOID:630 genetic disease ISO RGD:1603792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793424 Gpx8 glutathione peroxidase 8 (putative) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8793424 Gpx8 glutathione peroxidase 8 (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8793435 Pmm1 phosphomannomutase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8793435 Pmm1 phosphomannomutase 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1322064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8793435 Pmm1 phosphomannomutase 1 gene DOID:630 genetic disease ISO RGD:1322064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793469 Bloc1s2 biogenesis of lysosomal organelles complex 1 subunit 2 gene DOID:630 genetic disease ISO RGD:1315231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793469 Bloc1s2 biogenesis of lysosomal organelles complex 1 subunit 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8793469 Bloc1s2 biogenesis of lysosomal organelles complex 1 subunit 2 gene DOID:9007194 Sciatica ISO RGD:1306551 D RGD:9068941 20200609 RGD PMID:16176350|REF_RGD_ID:2302154 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347509 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung myofibroblast: PMID:22582174|REF_RGD_ID:11341695 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16105982 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1347509 D RGD:9068941 20200609 RGD PMID:14562111|REF_RGD_ID:11341680 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15924153 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1347509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1347509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:1240 leukemia ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:1793 pancreatic cancer ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20876774 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:3770 pulmonary fibrosis ISO RGD:731977 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung myofibroblast: PMID:22582174|REF_RGD_ID:11341695 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:6000 congestive heart failure ISO RGD:1347509 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cardiomyocyte: PMID:11033112|REF_RGD_ID:11341730 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:630 genetic disease ISO RGD:1347509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:8567 Hodgkin's lymphoma ISO RGD:1347509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659339 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1347509 D RGD:9068941 20200609 RGD protein:decreased expression:endothelial cell,macrophage: PMID:10623660|REF_RGD_ID:11341688 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:9006182 Carotid Artery Injuries disease_progression ISO RGD:620847 D RGD:9068941 20200609 RGD PMID:10623660|REF_RGD_ID:11341688 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1347509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:9007480 Hyperoxia ISO RGD:620847 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:19107989|REF_RGD_ID:8662854 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620847 D RGD:9068941 20200609 RGD PMID:18466417|REF_RGD_ID:11341714 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1347509 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8793483 Cflar CASP8 and FADD like apoptosis regulator gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1347509 D RGD:9068941 20200609 RGD PMID:23167276|REF_RGD_ID:11341679 8793518 Soat1 sterol O-acyltransferase 1 gene DOID:10230 aortic atherosclerosis ameliorates ISO RGD:1552527 D RGD:9068941 20210514 RGD associated with Hypercholesterolemia PMID:30282838|REF_RGD_ID:126925208 8793518 Soat1 sterol O-acyltransferase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:731039 D RGD:9068941 20210514 RGD DNA:Missense mutations, haplotype:CDS:multiple (mouse) PMID:22022387|REF_RGD_ID:126925202 8793518 Soat1 sterol O-acyltransferase 1 gene DOID:12140 Chagas disease ameliorates ISO RGD:731038 D RGD:9068941 20210514 RGD DNA:SNP:exon: rs1044925 (human) PMID:31236660|REF_RGD_ID:126925205 8793518 Soat1 sterol O-acyltransferase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:731038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8793518 Soat1 sterol O-acyltransferase 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:731039 D RGD:9068941 20210514 RGD myeloid knockout PMID:31495784|REF_RGD_ID:126925203 8793518 Soat1 sterol O-acyltransferase 1 gene DOID:3345 xanthomatosis ISO RGD:731039 D RGD:9068941 20210514 RGD associated with atherosclerosis PMID:30354239|REF_RGD_ID:126925206 8793518 Soat1 sterol O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:731038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793518 Soat1 sterol O-acyltransferase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:731038 D RGD:9068941 20210514 RGD associated with hepatitis B;protein:increased expression:liver (human) PMID:30814741|REF_RGD_ID:126925204 8793518 Soat1 sterol O-acyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8793518 Soat1 sterol O-acyltransferase 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:731038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8793518 Soat1 sterol O-acyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8793518 Soat1 sterol O-acyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731039 D RGD:9068941 20210514 RGD mRNA:increased expression:peritoneal macrophage (mouse) PMID:26606676|REF_RGD_ID:126925207 8793538 Mex3c mex-3 RNA binding family member C gene DOID:0060224 atrial fibrillation ISO RGD:1319133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8793538 Mex3c mex-3 RNA binding family member C gene DOID:1059 intellectual disability ISO RGD:1319133 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8793538 Mex3c mex-3 RNA binding family member C gene DOID:630 genetic disease ISO RGD:1319133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793538 Mex3c mex-3 RNA binding family member C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1319133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8793544 Acvr2a activin A receptor type 2A gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:731811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 8793544 Acvr2a activin A receptor type 2A gene DOID:1793 pancreatic cancer ISO RGD:731811 D RGD:9068941 20200609 RGD PMID:9714055|REF_RGD_ID:2317217 8793544 Acvr2a activin A receptor type 2A gene DOID:219 colon cancer ISO RGD:731811 D RGD:9068941 20200609 RGD DNA:mutation:polyadenine tract PMID:14988818|REF_RGD_ID:2301065 8793544 Acvr2a activin A receptor type 2A gene DOID:3883 Lynch syndrome ISO RGD:731811 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 8793544 Acvr2a activin A receptor type 2A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1550139 D RGD:9068941 20220825 MouseDO OMIM:261800 8793544 Acvr2a activin A receptor type 2A gene DOID:5844 myocardial infarction ISO RGD:1550139 D RGD:9068941 20230615 RGD mRNA:decreased expression:myocardium (mouse) PMID:32427381|REF_RGD_ID:329849118 8793544 Acvr2a activin A receptor type 2A gene DOID:630 genetic disease ISO RGD:731811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793544 Acvr2a activin A receptor type 2A gene DOID:9000027 Microsatellite Instability ISO RGD:731811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 8793544 Acvr2a activin A receptor type 2A gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:731811 D RGD:9068941 20220224 RGD associated with colon cancer;mRNA,protein:decreased expression:colon (human) PMID:30310521|REF_RGD_ID:151361136 8793544 Acvr2a activin A receptor type 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:731811 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16337854|REF_RGD_ID:2301061 8793544 Acvr2a activin A receptor type 2A gene DOID:9008763 Femoral Fractures ISO RGD:70911 D RGD:9068941 20200609 RGD PMID:9076583|REF_RGD_ID:2325239 8793566 Slc39a3 solute carrier family 39 member 3 gene DOID:630 genetic disease ISO RGD:1322010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793566 Slc39a3 solute carrier family 39 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8793573 Znf217 zinc finger protein 217 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1318226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 8793573 Znf217 zinc finger protein 217 gene DOID:13938 amenorrhea ISO RGD:1318226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8793573 Znf217 zinc finger protein 217 gene DOID:630 genetic disease ISO RGD:1318226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793580 Rbm42 RNA binding motif protein 42 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1601847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8793580 Rbm42 RNA binding motif protein 42 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1601847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8793580 Rbm42 RNA binding motif protein 42 gene DOID:543 dystonia ISO RGD:1601847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8793580 Rbm42 RNA binding motif protein 42 gene DOID:630 genetic disease ISO RGD:1601847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:0080000 muscular disease ISO RGD:1353383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29905857 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1353383 D RGD:7240710 20180130 OMIM 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:0110660 congenital myasthenic syndrome 12 ISO RGD:1353383 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 12 | ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates PMID:12467753|PMID:16199547|PMID:17576681|PMID:18414213|PMID:21310273|PMID:23488891|PMID:23569079|PMID:23794683|PMID:24033266|PMID:25741868|PMID:25765662|PMID:26467025|PMID:28464723|PMID:28492532|PMID:28712002|PMID:29054425|PMID:30124556|PMID:30635494|PMID:30653653|PMID:32140910|PMID:32403337|PMID:32528171|PMID:32754643|PMID:33756069|PMID:36188410|PMID:8664562|PMID:9536098 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1353383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency PMID:23794683|PMID:25741868|PMID:28464723|PMID:28492532|PMID:29054425|PMID:32403337|PMID:32528171 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1549703 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius PMID:16555472|REF_RGD_ID:1624365 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:2018 hyperinsulinism ISO RGD:1549703 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius PMID:16555472|REF_RGD_ID:1624365 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1353383 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:21310273|PMID:23488891|PMID:23569079|PMID:23794683|PMID:24033266|PMID:25741868|PMID:25765662|PMID:28492532|PMID:28712002|PMID:29054425|PMID:32403337|PMID:33756069|PMID:36188410 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:630 genetic disease ISO RGD:1353383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:9519709|REF_RGD_ID:2313353 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1549703 D RGD:9068941 20200609 RGD protein:decreased expression:epididymal fat pad, liver, skeletal muscle PMID:7589852|REF_RGD_ID:2313355 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:11118009|REF_RGD_ID:1625423 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:11118009|REF_RGD_ID:1625423 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:17574229|REF_RGD_ID:2313352 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9970 obesity ISO RGD:1353383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8793608 Gfpt1 glutamine--fructose-6-phosphate transaminase 1 gene DOID:9970 obesity ISO RGD:1353383 D RGD:9068941 20200609 RGD PMID:11118009|REF_RGD_ID:1625423 8793634 Tsc1 TSC complex subunit 1 gene DOID:0050562 West syndrome ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345974 8793634 Tsc1 TSC complex subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:21309039|PMID:22161988|PMID:22558107|PMID:22703879|PMID:23514105|PMID:23857276|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 8793634 Tsc1 TSC complex subunit 1 gene DOID:0060564 spinal disease ISO RGD:733994 D RGD:9068941 20220825 MouseDO 8793634 Tsc1 TSC complex subunit 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:733994 D RGD:9068941 20220825 MouseDO 8793634 Tsc1 TSC complex subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:736947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 8793634 Tsc1 TSC complex subunit 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8793634 Tsc1 TSC complex subunit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736947 D RGD:7240710 20180130 OMIM 8793634 Tsc1 TSC complex subunit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736947 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:10090883|PMID:10205261|PMID:10227394|PMID:10330349|PMID:10340649|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:10942116|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11281455|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14597398|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15236319|PMID:15595939|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16225402|PMID:16554133|PMID:16981987|PMID:17287951|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18801034|PMID:18830229|PMID:18854862|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19419980|PMID:19747374|PMID:19763152|PMID:19789314|PMID:19918125|PMID:20082901|PMID:20165957|PMID:20185476|PMID:20307669|PMID:20399389|PMID:20547222|PMID:20633017|PMID:20877415|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22406018|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22867869|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23647917|PMID:23728315|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24271014|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25117416|PMID:25326635|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25640679|PMID:25684150|PMID:25722345|PMID:25741868|PMID:25782670|PMID:25889454|PMID:25900779|PMID:25927202|PMID:25944380|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27174333|PMID:27229674|PMID:27406250|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27859028|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28623545|PMID:28762286|PMID:28968464|PMID:29045506|PMID:29052576|PMID:29101226|PMID:29127155|PMID:29196670|PMID:29221145|PMID:29261847|PMID:29286531|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30076350|PMID:30093976|PMID:30182498|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31019026|PMID:31054281|PMID:31377847|PMID:31484976|PMID:31525612|PMID:31564432|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31855466|PMID:31856217|PMID:31911633|PMID:31927531|PMID:32005694|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32368696|PMID:32461669|PMID:32555378|PMID:32647919|PMID:32655475|PMID:32917966|PMID:33181865|PMID:33532864|PMID:34008892|PMID:34403804|PMID:34573383|PMID:34799483|PMID:35571021|PMID:35918040|PMID:36232477|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:0080324 tuberous sclerosis 1 treatment ISO RGD:736947 D RGD:9068941 20200609 RGD PMID:26019056|REF_RGD_ID:11570507 8793634 Tsc1 TSC complex subunit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8793634 Tsc1 TSC complex subunit 1 gene DOID:0081097 Rafiq syndrome ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8793634 Tsc1 TSC complex subunit 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortical dysplasia PMID:10227394|PMID:10570911|PMID:15798777|PMID:17304050|PMID:23341583|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28968464 8793634 Tsc1 TSC complex subunit 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:733994 D RGD:9068941 20220825 MouseDO OMIM:263200 8793634 Tsc1 TSC complex subunit 1 gene DOID:10126 keratoconus ISO RGD:736947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 8793634 Tsc1 TSC complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:736947 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;DNA:frameshift mutations PMID:26408672|REF_RGD_ID:11535605 8793634 Tsc1 TSC complex subunit 1 gene DOID:1074 kidney failure ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal failure PMID:10227394|PMID:10570911|PMID:15798777|PMID:17304050|PMID:23341583|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28968464 8793634 Tsc1 TSC complex subunit 1 gene DOID:11054 urinary bladder cancer ISO RGD:736947 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11329144|PMID:12111193|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16981987|PMID:17304050|PMID:18032745|PMID:18397877|PMID:18772611|PMID:18830229|PMID:19139070|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21811971|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22923433|PMID:23254740|PMID:23401075|PMID:23728315|PMID:24033266|PMID:24271014|PMID:24633152|PMID:24728327|PMID:25525159|PMID:25741868|PMID:25889454|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:27061015|PMID:27174333|PMID:27425891|PMID:27494029|PMID:28065512|PMID:28087349|PMID:28492532|PMID:29221145|PMID:29655203|PMID:29932062|PMID:32211034|PMID:32917966|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:12849 autistic disorder ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18067135 8793634 Tsc1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis ISO RGD:736947 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:10090883|PMID:10205261|PMID:10227394|PMID:10330349|PMID:10340649|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11271387|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15236319|PMID:15595939|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:18854862|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19419980|PMID:19747374|PMID:19789314|PMID:19918125|PMID:20165957|PMID:20185476|PMID:20399389|PMID:20498439|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22867869|PMID:22903760|PMID:22923433|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25117416|PMID:25326635|PMID:25498131|PMID:25525159|PMID:25684150|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26493680|PMID:26540169|PMID:26580448|PMID:27061015|PMID:27153395|PMID:27406250|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27859028|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28291513|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29101226|PMID:29127155|PMID:29196670|PMID:29221145|PMID:29261847|PMID:29286531|PMID:29432982|PMID:29458892|PMID:29500070|PMID:29655203|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30076350|PMID:30548481|PMID:30581017|PMID:30794603|PMID:31019026|PMID:31054281|PMID:31377847|PMID:31525612|PMID:31564432|PMID:31664448|PMID:31855466|PMID:31927531|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32555378|PMID:32917966|PMID:34573383|PMID:34799483|PMID:35710456|PMID:37149759|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:13515 tuberous sclerosis susceptibility ISO RGD:736947 D RGD:9068941 20200609 RGD DNA:nonsense mutations, deletion: :multiple PMID:9242607|REF_RGD_ID:1624196 8793634 Tsc1 TSC complex subunit 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8793634 Tsc1 TSC complex subunit 1 gene DOID:1561 cognitive disorder ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18067135 8793634 Tsc1 TSC complex subunit 1 gene DOID:1612 breast cancer ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:12111193|PMID:14633685|PMID:16114042|PMID:16981987|PMID:17304050|PMID:18772611|PMID:21510812|PMID:21811971|PMID:22703879|PMID:23254740|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:1612 breast cancer disease_progression ISO RGD:736947 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:15951164|REF_RGD_ID:11568707 8793634 Tsc1 TSC complex subunit 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 8793634 Tsc1 TSC complex subunit 1 gene DOID:1826 epilepsy ISO RGD:736947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10227394|PMID:10363127|PMID:10533067|PMID:11112665|PMID:12015165|PMID:14756965|PMID:15798777|PMID:16981987|PMID:17304050|PMID:18032745|PMID:21520333|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29286531|PMID:32211034|PMID:32238909|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:2394 ovarian cancer ISO RGD:736947 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532|PMID:32211034 8793634 Tsc1 TSC complex subunit 1 gene DOID:3070 high grade glioma ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 8793634 Tsc1 TSC complex subunit 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736947 D RGD:7240710 20180130 OMIM 8793634 Tsc1 TSC complex subunit 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736947 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:10090883|PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10533069|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11829138|PMID:12015165|PMID:12111193|PMID:12773163|PMID:12853839|PMID:14633685|PMID:14756965|PMID:15798777|PMID:16114042|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18772611|PMID:18830229|PMID:19419980|PMID:19747374|PMID:20399389|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22903760|PMID:22923433|PMID:23254740|PMID:23401075|PMID:23514105|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26231267|PMID:26467025|PMID:26540169|PMID:26580448|PMID:27061015|PMID:27425891|PMID:27494029|PMID:28087349|PMID:28492532|PMID:28614114|PMID:29221145|PMID:29286531|PMID:29500070|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29932062|PMID:29960980|PMID:30842500|PMID:31019026|PMID:31564432|PMID:32211034|PMID:32313033|PMID:34573383|PMID:5279523|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:3652 Leigh disease ISO RGD:736947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8793634 Tsc1 TSC complex subunit 1 gene DOID:3840 craniopharyngioma ISO RGD:736947 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:22161988|PMID:25741868|PMID:28492532|PMID:29684080 8793634 Tsc1 TSC complex subunit 1 gene DOID:4450 renal cell carcinoma ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8793634 Tsc1 TSC complex subunit 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736947 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:16909113|REF_RGD_ID:11570509 8793634 Tsc1 TSC complex subunit 1 gene DOID:4905 pancreatic carcinoma ISO RGD:733994 D RGD:9068941 20200609 RGD PMID:25425965|REF_RGD_ID:11570510 8793634 Tsc1 TSC complex subunit 1 gene DOID:630 genetic disease ISO RGD:736947 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8793634 Tsc1 TSC complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499249 8793634 Tsc1 TSC complex subunit 1 gene DOID:769 neuroblastoma ISO RGD:736947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 8793634 Tsc1 TSC complex subunit 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17484760 8793634 Tsc1 TSC complex subunit 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:733994 D RGD:9068941 20200609 RGD PMID:11438694|REF_RGD_ID:11570508 8793634 Tsc1 TSC complex subunit 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:736947 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primitive neuroectodermal tumor PMID:16554133|PMID:21309039|PMID:22703879|PMID:23514105|PMID:25077650|PMID:25498131|PMID:25722345|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:30076350|PMID:31054281 8793634 Tsc1 TSC complex subunit 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733994 D RGD:9068941 20200609 RGD PMID:19966866|REF_RGD_ID:11568678 8793634 Tsc1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15798777|PMID:16114042|PMID:16554133|PMID:16981987|PMID:17304050|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22791573|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23514105|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25498131|PMID:25525159|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26332594|PMID:26467025|PMID:26563443|PMID:26580448|PMID:26786560|PMID:27153395|PMID:27425891|PMID:27470532|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28492532|PMID:28968464|PMID:29261847|PMID:29458892|PMID:29706646|PMID:29740858|PMID:30093976|PMID:31856217|PMID:32211034|PMID:32238909|PMID:32917966|PMID:9242607|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22903760|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30548481|PMID:30842500|PMID:31484976|PMID:31586081|PMID:31832524|PMID:31856217|PMID:31911633|PMID:32091409|PMID:32211034|PMID:32238909|PMID:32461669|PMID:32917966|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30548481|PMID:30842500|PMID:31484976|PMID:31525612|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:32091409|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32917966|PMID:34799483|PMID:35918040|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18801034|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:27854218|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30093976|PMID:30548481|PMID:30842500|PMID:31484976|PMID:31525612|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32917966|PMID:34799483|PMID:35918040|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736947 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10607950|PMID:10874311|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11329144|PMID:11774213|PMID:12015165|PMID:12040899|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:14642745|PMID:14756965|PMID:15121797|PMID:15769473|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18801034|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19254590|PMID:19747374|PMID:19789314|PMID:19918125|PMID:20165957|PMID:20547222|PMID:20633017|PMID:21309039|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22707517|PMID:22791573|PMID:22923433|PMID:22974335|PMID:22995991|PMID:23254740|PMID:23341583|PMID:23389244|PMID:23401075|PMID:23514105|PMID:23728315|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24633152|PMID:24714658|PMID:24728327|PMID:24789117|PMID:25077650|PMID:25401301|PMID:25498131|PMID:25525159|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26226092|PMID:26231267|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26615199|PMID:26786560|PMID:26934580|PMID:27061015|PMID:27153395|PMID:27229674|PMID:27425891|PMID:27470532|PMID:27494029|PMID:27600092|PMID:28065512|PMID:28087349|PMID:28215400|PMID:28250423|PMID:28288225|PMID:28492532|PMID:28614114|PMID:28968464|PMID:29221145|PMID:29261847|PMID:29344138|PMID:29458892|PMID:29500070|PMID:29619247|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29706646|PMID:29740858|PMID:29932062|PMID:29960980|PMID:30076350|PMID:30093976|PMID:30548481|PMID:30794603|PMID:30842500|PMID:31019026|PMID:31054281|PMID:31484976|PMID:31525612|PMID:31564432|PMID:31586081|PMID:31664448|PMID:31832524|PMID:31856217|PMID:31911633|PMID:31927531|PMID:32091409|PMID:32203225|PMID:32211034|PMID:32238909|PMID:32313033|PMID:32461669|PMID:32917966|PMID:33181865|PMID:34403804|PMID:34573383|PMID:34799483|PMID:35918040|PMID:36232477|PMID:37149759|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 8793634 Tsc1 TSC complex subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:733994 D RGD:9068941 20200609 RGD PMID:15380067|REF_RGD_ID:1624197 8793634 Tsc1 TSC complex subunit 1 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736947 D RGD:7240710 20180130 OMIM 8793634 Tsc1 TSC complex subunit 1 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736947 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II PMID:10205261|PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:11329144|PMID:12015165|PMID:12111193|PMID:12112044|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:15595939|PMID:15798777|PMID:16114042|PMID:16554133|PMID:16981987|PMID:17304050|PMID:17576681|PMID:18032745|PMID:18397877|PMID:18414213|PMID:18772611|PMID:18830229|PMID:19139070|PMID:19175396|PMID:19747374|PMID:19918125|PMID:20165957|PMID:21309039|PMID:21510812|PMID:21624971|PMID:21811971|PMID:22161988|PMID:22558107|PMID:22703879|PMID:22995991|PMID:23254740|PMID:23389244|PMID:23514105|PMID:23857276|PMID:23999528|PMID:24033266|PMID:24633152|PMID:24728327|PMID:25077650|PMID:25498131|PMID:25722345|PMID:25741868|PMID:25900779|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26580448|PMID:27153395|PMID:27425891|PMID:28215400|PMID:28250423|PMID:28492532|PMID:29261847|PMID:29684080|PMID:29706646|PMID:30076350|PMID:30548481|PMID:31054281|PMID:31664448|PMID:31856217|PMID:32917966|PMID:34799483|PMID:9242607|PMID:9328481|PMID:9536098|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:736947 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10227394|PMID:10353610|PMID:10363127|PMID:10533067|PMID:10570911|PMID:10607950|PMID:11208653|PMID:11329144|PMID:12111193|PMID:12773163|PMID:12853839|PMID:14551205|PMID:14633685|PMID:16114042|PMID:16981987|PMID:17304050|PMID:18397877|PMID:18772611|PMID:19139070|PMID:21309039|PMID:21510812|PMID:21811971|PMID:22558107|PMID:22703879|PMID:23254740|PMID:23728315|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27174333|PMID:28492532|PMID:9328481|PMID:9803264|PMID:9863590|PMID:9924605 8793634 Tsc1 TSC complex subunit 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736947 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:26580448|PMID:28492532 8793634 Tsc1 TSC complex subunit 1 gene DOID:936 brain disease ISO RGD:736947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062901 8793634 Tsc1 TSC complex subunit 1 gene DOID:9970 obesity ISO RGD:620124 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:25807795|REF_RGD_ID:11570513 8793681 Dph6 diphthamine biosynthesis 6 gene DOID:2717 Bloom syndrome ISO RGD:1603188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8793681 Dph6 diphthamine biosynthesis 6 gene DOID:630 genetic disease ISO RGD:1603188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793681 Dph6 diphthamine biosynthesis 6 gene DOID:9256 colorectal cancer ISO RGD:1603188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:0050625 biliary tract benign neoplasm disease_progression ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18475301|REF_RGD_ID:2324916 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:737024 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10126 keratoconus ISO RGD:737024 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Keratoconus 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:62293 D RGD:9068941 20200609 RGD PMID:21283525|PMID:23272068|REF_RGD_ID:7364730|REF_RGD_ID:7364762 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:62293 D RGD:9068941 20220825 MouseDO 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:23538614|REF_RGD_ID:7349402 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome treatment ISO RGD:62001 D RGD:9068941 20200609 RGD protein:decreased expression:cornea PMID:19415319|REF_RGD_ID:2324954 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome treatment ISO RGD:737024 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease PMID:17982500|REF_RGD_ID:7364737 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:1616427 D RGD:9068941 20200609 RGD associated with CHARGE Syndrome PMID:22539951|REF_RGD_ID:7349405 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA:increased expression:ear PMID:11425202|REF_RGD_ID:2324973 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10808 gastric ulcer ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:stomach PMID:11956390|REF_RGD_ID:2324968 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:10808 gastric ulcer treatment ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:16240224|REF_RGD_ID:7364759 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:62293 D RGD:9068941 20200609 RGD associated with Respiratory Hypersensitivity; protein:increased expression:lung PMID:15130904|REF_RGD_ID:5131205 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:12894 Sjogren's syndrome ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctival epithelial cell PMID:18184611|REF_RGD_ID:7364736 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:12895 keratoconjunctivitis sicca ISO RGD:731951 D RGD:9068941 20200609 RGD PMID:14507865|REF_RGD_ID:7349377 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:13550 angle-closure glaucoma ISO RGD:737024 D RGD:9068941 20200609 RGD associated with Cataract;protein:decreased expression:tear PMID:21139981|REF_RGD_ID:7364742 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:17255563|REF_RGD_ID:5131191 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1679 cystitis ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:17659847|REF_RGD_ID:7349345 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1686 glaucoma ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:conjunctival epithelial cell PMID:16809382|REF_RGD_ID:7364743 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1749 squamous cell carcinoma ISO RGD:737024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1793 pancreatic cancer ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:14654947|REF_RGD_ID:2317984 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:1793 pancreatic cancer ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased glycosylation:serum PMID:19377061|REF_RGD_ID:2325129 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:17590487|REF_RGD_ID:2324962 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:62293 D RGD:9068941 20200609 RGD PMID:14594655|REF_RGD_ID:7349354 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:62293 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21780541|REF_RGD_ID:7349407 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17698377|REF_RGD_ID:5131204 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:2841 asthma treatment ISO RGD:62293 D RGD:9068941 20200609 RGD PMID:21549818|REF_RGD_ID:7364729 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:737024 D RGD:9068941 20200609 RGD associated with pancreatic diseases;protein:decreased expression:pancreas PMID:19954814|REF_RGD_ID:2324889 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:737024 D RGD:9068941 20200609 RGD associated with pancreatic neoplasms;protein:increased expression:pancreas PMID:17708554|REF_RGD_ID:2324887 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma disease_progression ISO RGD:737024 D RGD:9068941 20200609 RGD associated with pancreatic neoplasms; mRNA:increased expression:pancreas PMID:10227724|REF_RGD_ID:2324907 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17637221|REF_RGD_ID:4145655 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:bronchi PMID:19723147|REF_RGD_ID:5131190 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:22282955|REF_RGD_ID:7349406 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7657125|REF_RGD_ID:2324986 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:10227724|REF_RGD_ID:2324907 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3770 pulmonary fibrosis ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:14680076|REF_RGD_ID:5131207 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3770 pulmonary fibrosis ISO RGD:62293 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19154443|REF_RGD_ID:2314537 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:3910 lung adenocarcinoma ISO RGD:737024 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:4481 allergic rhinitis ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity epithelium PMID:22972875|REF_RGD_ID:7364746 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:4483 rhinitis ISO RGD:62001 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20696593|REF_RGD_ID:4145454 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:4483 rhinitis ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:15715404|REF_RGD_ID:7364740 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:4608 common bile duct neoplasm ISO RGD:737024 D RGD:9068941 20200609 RGD protein:altered expression:pancreas PMID:8143972|REF_RGD_ID:2324890 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:11680592|REF_RGD_ID:2324948 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14508831|REF_RGD_ID:2324990 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:76 stomach disease treatment ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:23200466|REF_RGD_ID:7364745 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:8463 corneal ulcer ISO RGD:737024 D RGD:9068941 20200609 RGD associated with Hypersensitivity;mRNA:decreased expression:eye PMID:16251127|REF_RGD_ID:7364739 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000011 Gallbladder Neoplasms ISO RGD:737024 D RGD:9068941 20200609 RGD protein:decreased expression:gallbladder PMID:15260848|REF_RGD_ID:2324651 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000081 Lymphatic Metastasis ISO RGD:737024 D RGD:9068941 20200609 RGD associated with chloangiocarcinoma;protein:increased expression:bile duct PMID:16842244|REF_RGD_ID:2325168 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000156 Metaplasia ISO RGD:737024 D RGD:9068941 20200609 RGD associated with Duodenal Diseases PMID:12612884|REF_RGD_ID:7364761 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9000965 Neoplasm Metastasis ISO RGD:737024 D RGD:9068941 20200609 RGD associated with chloangiocarcinoma;protein:increased expression:bile duct PMID:16124042|REF_RGD_ID:2324987 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9001472 Nasal Polyps ISO RGD:737024 D RGD:9068941 20200609 RGD PMID:15715404|REF_RGD_ID:7364740 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections resistance ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:22269441|REF_RGD_ID:7364747 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections resistance ISO RGD:62293 D RGD:9068941 20200609 RGD mRNA:increased expression:cecum PMID:20138044|REF_RGD_ID:7349349 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9003470 Picornaviridae Infections ISO RGD:62293 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive PMID:19748999|REF_RGD_ID:4145626 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9003470 Picornaviridae Infections severity ISO RGD:737024 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20525715|REF_RGD_ID:5131431 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:737024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9005941 Rhinosinusitis treatment ISO RGD:62001 D RGD:9068941 20200609 RGD PMID:19389874|PMID:23131200|REF_RGD_ID:7349403|REF_RGD_ID:7364734 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:737024 D RGD:9068941 20200609 RGD protein:decreased expression:bronchiole epithelium PMID:15364771|REF_RGD_ID:7364741 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:decreased expression:ear PMID:22336013|REF_RGD_ID:7364764 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear PMID:20713760|REF_RGD_ID:7364731 8793705 Muc5ac mucin 5AC, oligomeric mucus/gel-forming gene DOID:9368 keratoconjunctivitis ISO RGD:737024 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctival epithelial cell PMID:18782111|REF_RGD_ID:7364735 8793760 Atf6 activating transcription factor 6 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1313517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 8793760 Atf6 activating transcription factor 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8793760 Atf6 activating transcription factor 6 gene DOID:0110009 achromatopsia 7 ISO RGD:1313517 D RGD:7240710 20180130 OMIM 8793760 Atf6 activating transcription factor 6 gene DOID:0110009 achromatopsia 7 ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achromatopsia 7 PMID:24824130|PMID:25741868|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28028229|PMID:28492532 8793760 Atf6 activating transcription factor 6 gene DOID:10320 asbestosis ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 8793760 Atf6 activating transcription factor 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 8793760 Atf6 activating transcription factor 6 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 8793760 Atf6 activating transcription factor 6 gene DOID:13399 color blindness ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 8793760 Atf6 activating transcription factor 6 gene DOID:13911 achromatopsia ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:16199547|PMID:24033266|PMID:26029869|PMID:26063662|PMID:26070061|PMID:28041643|PMID:28492532 8793760 Atf6 activating transcription factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8793760 Atf6 activating transcription factor 6 gene DOID:4448 macular degeneration ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28041643 8793760 Atf6 activating transcription factor 6 gene DOID:5154 borna disease ISO RGD:1305471 D RGD:9068941 20200702 RGD protein:increased expression:cerebellum, hippocampus PMID:16912310|REF_RGD_ID:32733622 8793760 Atf6 activating transcription factor 6 gene DOID:5434 scrapie ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 8793760 Atf6 activating transcription factor 6 gene DOID:630 genetic disease ISO RGD:1313517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8793760 Atf6 activating transcription factor 6 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1313518 D RGD:9068941 20230525 RGD PMID:34144219|REF_RGD_ID:329812011 8793760 Atf6 activating transcription factor 6 gene DOID:9003137 Photophobia ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 8793760 Atf6 activating transcription factor 6 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1313518 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 8793760 Atf6 activating transcription factor 6 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:1305471 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 8793760 Atf6 activating transcription factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8793760 Atf6 activating transcription factor 6 gene DOID:9452 steatotic liver disease treatment ISO RGD:1313518 D RGD:9068941 20231019 RGD PMID:27813192|REF_RGD_ID:401842386 8793760 Atf6 activating transcription factor 6 gene DOID:9649 congenital nystagmus ISO RGD:1313517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26029869 8793780 Jup junction plakoglobin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:24033266|PMID:24884844|PMID:25741868|PMID:28098346|PMID:28492532|PMID:33673806 8793780 Jup junction plakoglobin gene DOID:0050700 cardiomyopathy ISO RGD:732396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16467215|PMID:19863551|PMID:20525856|PMID:20864495|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25363768|PMID:25445213|PMID:25741868|PMID:25765472|PMID:26073755|PMID:27005929|PMID:27532257|PMID:28492532|PMID:29802319|PMID:29892012|PMID:30847666|PMID:31983221|PMID:32268277|PMID:34011629 8793780 Jup junction plakoglobin gene DOID:0060480 left ventricular noncompaction ISO RGD:732396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8793780 Jup junction plakoglobin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623 8793780 Jup junction plakoglobin gene DOID:0080365 endometrial hyperplasia ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:12635138|REF_RGD_ID:2301747 8793780 Jup junction plakoglobin gene DOID:0080551 Naxos disease ISO RGD:732396 D RGD:7240710 20180130 OMIM 8793780 Jup junction plakoglobin gene DOID:0080551 Naxos disease ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:18937352|PMID:19067702|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21320868|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:24704780|PMID:24884844|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28098346|PMID:28166811|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29892012|PMID:30206291|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34011629|PMID:34026867|PMID:35581137|PMID:9536098 8793780 Jup junction plakoglobin gene DOID:0080551 Naxos disease ISO RGD:732396 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:18937352|PMID:19067702|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21320868|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:24704780|PMID:24884844|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28098346|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29350269|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29892012|PMID:30206291|PMID:30453078|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33673806|PMID:33919104|PMID:34011629|PMID:34026867|PMID:34076677|PMID:34500006|PMID:35087879|PMID:35091851|PMID:35581137|PMID:9536098 8793780 Jup junction plakoglobin gene DOID:0110083 arrhythmogenic right ventricular dysplasia 12 ISO RGD:732396 D RGD:7240710 20180130 OMIM 8793780 Jup junction plakoglobin gene DOID:0110083 arrhythmogenic right ventricular dysplasia 12 ISO RGD:732396 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29350269|PMID:29517769|PMID:29606362|PMID:29892012|PMID:30206291|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33919104|PMID:34011629|PMID:34026867|PMID:34076677|PMID:34500006|PMID:35091851|PMID:35581137|PMID:9536098 8793780 Jup junction plakoglobin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:28166811|PMID:28492532|PMID:28831623 8793780 Jup junction plakoglobin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623 8793780 Jup junction plakoglobin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 8793780 Jup junction plakoglobin gene DOID:10283 prostate cancer ISO RGD:732396 D RGD:9068941 20200609 RGD DNA,mRNA,protein:loss of heterozygosity, decreased expression:tumor:relative to either BPH or normal prostate PMID:15781623|REF_RGD_ID:2291864 8793780 Jup junction plakoglobin gene DOID:10283 prostate cancer severity ISO RGD:732396 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significantly associated with capsular invasion (p=0.007 for all cases, p=0.015 for cases with Gleason score 5-7) PMID:10206308|REF_RGD_ID:2291876 8793780 Jup junction plakoglobin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significant association with tumor grade and stage (p < 0.001) PMID:17363521|REF_RGD_ID:2289818 8793780 Jup junction plakoglobin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732397 D RGD:9068941 20200609 RGD DNA, protein:mutations, increased expression:urinary bladder PMID:11585741|REF_RGD_ID:2301748 8793780 Jup junction plakoglobin gene DOID:11054 urinary bladder cancer severity ISO RGD:732396 D RGD:9068941 20200609 RGD protein:altered localization:tumor:loss of membrane expression associated with higher grade (p<0.05), higher stage (p<0.05), and poor survival (p<0.05) PMID:9783980|REF_RGD_ID:2291880 8793780 Jup junction plakoglobin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8793780 Jup junction plakoglobin gene DOID:12930 dilated cardiomyopathy ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20031617|PMID:20857253|PMID:21859740|PMID:23861362|PMID:24033266|PMID:25616645|PMID:25741868|PMID:25820315|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28471438|PMID:28492532|PMID:28831623|PMID:31402444|PMID:31983221|PMID:32233023|PMID:34026867|PMID:35581137 8793780 Jup junction plakoglobin gene DOID:1380 endometrial cancer ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:12635138|REF_RGD_ID:2301747 8793780 Jup junction plakoglobin gene DOID:2154 nephroblastoma disease_progression ISO RGD:732396 D RGD:9068941 20200609 RGD PMID:17633921|REF_RGD_ID:2301745 8793780 Jup junction plakoglobin gene DOID:2394 ovarian cancer ISO RGD:732396 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predisposition PMID:7604000|REF_RGD_ID:2291881 8793780 Jup junction plakoglobin gene DOID:2843 long QT syndrome ISO RGD:732396 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 8793780 Jup junction plakoglobin gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:associated with higher Robinson grade (p=0.016) and lymph node metastases (p=0.012) PMID:16610682|REF_RGD_ID:2291882 8793780 Jup junction plakoglobin gene DOID:3390 palmoplantar keratosis ISO RGD:732396 D RGD:9068941 20200609 RGD Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG PMID:10902626|REF_RGD_ID:1600286 8793780 Jup junction plakoglobin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732396 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:27532257|PMID:28492532|PMID:31983221|PMID:32233023 8793780 Jup junction plakoglobin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732396 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221|PMID:32233023 8793780 Jup junction plakoglobin gene DOID:409 liver disease ISO RGD:732396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8793780 Jup junction plakoglobin gene DOID:4440 seminoma ISO RGD:732396 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:relative to normal tissue (p<0.01) PMID:11956097|REF_RGD_ID:2291872 8793780 Jup junction plakoglobin gene DOID:4450 renal cell carcinoma ISO RGD:732396 D RGD:9068941 20200609 RGD DNA:increased methylation:promoter:significantly increased methylation vs normal kidney (p < 0.01) PMID:15701841|REF_RGD_ID:2291866 8793780 Jup junction plakoglobin gene DOID:4450 renal cell carcinoma ISO RGD:732396 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:relative to normal kidney (p<0.001), higher expression associated with better survival rate (p<0.05) PMID:9891472|REF_RGD_ID:2291890 8793780 Jup junction plakoglobin gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:732397 D RGD:9068941 20220825 MouseDO OMIM:113800 8793780 Jup junction plakoglobin gene DOID:630 genetic disease ISO RGD:732396 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8793780 Jup junction plakoglobin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24033266|PMID:25741868|PMID:28492532 8793780 Jup junction plakoglobin gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732396 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:14670177|REF_RGD_ID:2301235 8793780 Jup junction plakoglobin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:732396 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:26220970|PMID:28492532|PMID:29334134|PMID:29350269 8793780 Jup junction plakoglobin gene DOID:9000965 Neoplasm Metastasis ISO RGD:732396 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:15619205|REF_RGD_ID:2301746 8793780 Jup junction plakoglobin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666 8793780 Jup junction plakoglobin gene DOID:9002304 Prostatic Neoplasms ISO RGD:732396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8793780 Jup junction plakoglobin gene DOID:9003163 Heart Block ISO RGD:732396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666 8793780 Jup junction plakoglobin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732396 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:23861362|PMID:25741868|PMID:28492532 8793780 Jup junction plakoglobin gene DOID:9005527 No-Reflow Phenomenon ISO RGD:732396 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16824628 8793780 Jup junction plakoglobin gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:732396 D RGD:9068941 20200609 RGD Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG PMID:10902626|REF_RGD_ID:1600286 8793780 Jup junction plakoglobin gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:732396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 8793780 Jup junction plakoglobin gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:732396 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:20864495|PMID:24033266|PMID:25351510|PMID:25363768|PMID:25741868|PMID:28492532|PMID:29892012|PMID:32268277|PMID:34011629 8793780 Jup junction plakoglobin gene DOID:9008939 Breast Neoplasms ISO RGD:732396 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predisposition PMID:7604000|REF_RGD_ID:2291881 8793780 Jup junction plakoglobin gene DOID:9008939 Breast Neoplasms no_association ISO RGD:732396 D RGD:9068941 20200609 RGD Protein::tumor:normal expression in both T1 and T2 tumors PMID:17008277|REF_RGD_ID:2291883 8793780 Jup junction plakoglobin gene DOID:9008939 Breast Neoplasms severity ISO RGD:732396 D RGD:9068941 20200609 RGD protein:increased expression:tumor, cell membrane:significantly associated with relapse-free and overall survival (p=0.029 and 0.020, respectively) PMID:11276001|REF_RGD_ID:2291873 8793798 Wwp1 WW domain containing E3 ubiquitin protein ligase 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1323344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8793798 Wwp1 WW domain containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1323344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1344840 D RGD:7240710 20180130 OMIM 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:1344840 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy PMID:11815777|PMID:16199547|PMID:16773508|PMID:17458872|PMID:17576681|PMID:18536048|PMID:20185470|PMID:24033266|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26965209|PMID:28492532|PMID:2894756|PMID:30561787|PMID:31130284|PMID:32169171|PMID:33510602|PMID:8040306|PMID:8279468|PMID:9536098 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:0070516 Mitchell syndrome ISO RGD:1344840 D RGD:7240710 20201104 OMIM 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:0070516 Mitchell syndrome ISO RGD:1344840 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Mitchell syndrome PMID:16199547|PMID:17458872|PMID:25741868|PMID:28492532|PMID:32169171|PMID:8040306 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1344840 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K PMID:25326637|PMID:28492532 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A ISO RGD:1344840 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A PMID:25326637|PMID:28492532 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:630 genetic disease ISO RGD:1344840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32169171 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12771043|PMID:15565109 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1344840 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive PMID:25326637|PMID:28492532 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:9005532 Muscle Weakness ISO RGD:1344840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:9452 steatotic liver disease treatment ISO RGD:619757 D RGD:9068941 20240201 RGD PMID:30298849|REF_RGD_ID:401960083 8793820 Acox1 acyl-CoA oxidase 1 gene DOID:9970 obesity treatment ISO RGD:619757 D RGD:9068941 20240201 RGD PMID:30298849|REF_RGD_ID:401960083 8793874 Cacng5 calcium voltage-gated channel auxiliary subunit gamma 5 gene DOID:630 genetic disease ISO RGD:734378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1323505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:10763 hypertension ISO RGD:1311838 D RGD:9068941 20230608 RGD mRNA, protein:splice variant, increased expression:mesenteric artery (rat) PMID:28993448|REF_RGD_ID:329848961 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1323505 D RGD:9068941 20230608 RGD protein:increased expression:heart (human) PMID:32109384|REF_RGD_ID:329848958 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1323506 D RGD:9068941 20230601 RGD PMID:25753418|REF_RGD_ID:329845877 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:1682 congenital heart disease ISO RGD:1323505 D RGD:9068941 20230601 RGD DNA:mutations:multiple (human) PMID:26785492|REF_RGD_ID:329845876 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:1682 congenital heart disease ISO RGD:1323505 D RGD:9068941 20230608 RGD mRNA:decreased expression:cardiovascular system (human) PMID:27670201|REF_RGD_ID:329849001 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:6000 congestive heart failure ISO RGD:1323506 D RGD:9068941 20230608 RGD protein:decreased expression:heart (mouse) PMID:25753418|REF_RGD_ID:329845877 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:630 genetic disease ISO RGD:1323505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1323505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1323506 D RGD:9068941 20230601 RGD mRNA:splice variant: heart (mouse) PMID:27239029|REF_RGD_ID:329845874 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1323506 D RGD:9068941 20230608 RGD protein:increased expression:heart, cytoplasm (mouse) PMID:24151077|REF_RGD_ID:329848997 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323505 D RGD:9068941 20230601 RGD mRNA:splice variant: heart (human) PMID:27239029|REF_RGD_ID:329845874 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1323506 D RGD:9068941 20230601 RGD mRNA:splice variant: heart (mouse) PMID:27239029|REF_RGD_ID:329845874 8793884 Rbfox2 RNA binding fox-1 homolog 2 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1323505 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:25741868|PMID:26785492|PMID:27485310|PMID:27670201|PMID:32368696|PMID:35137168 8793980 Ndc1 NDC1 transmembrane nucleoporin gene DOID:630 genetic disease ISO RGD:1601865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8793980 Ndc1 NDC1 transmembrane nucleoporin gene DOID:9004657 Weight Gain ISO RGD:1601865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8793980 Ndc1 NDC1 transmembrane nucleoporin gene DOID:9008086 Developmental Disabilities ISO RGD:1601865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8794002 Elspbp1 epididymal sperm binding protein 1 gene DOID:630 genetic disease ISO RGD:1354263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794019 Rabgap1l RAB GTPase activating protein 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8794019 Rabgap1l RAB GTPase activating protein 1 like gene DOID:3755 antithrombin III deficiency ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8794019 Rabgap1l RAB GTPase activating protein 1 like gene DOID:630 genetic disease ISO RGD:1347519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794019 Rabgap1l RAB GTPase activating protein 1 like gene DOID:869 cholesteatoma ISO RGD:1347519 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 8794019 Rabgap1l RAB GTPase activating protein 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8794019 Rabgap1l RAB GTPase activating protein 1 like gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8794019 Rabgap1l RAB GTPase activating protein 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8794086 Rwdd2a RWD domain containing 2A gene DOID:0111953 immunodeficiency 23 ISO RGD:1314728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 8794086 Rwdd2a RWD domain containing 2A gene DOID:630 genetic disease ISO RGD:1314728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794096 Syn1 synapsin I gene DOID:0060041 autism spectrum disorder ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8794096 Syn1 synapsin I gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8794096 Syn1 synapsin I gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8794096 Syn1 synapsin I gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8794096 Syn1 synapsin I gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:731422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8794096 Syn1 synapsin I gene DOID:0112029 non-syndromic X-linked intellectual disability 50 ISO RGD:731422 D RGD:7240710 20190717 OMIM 8794096 Syn1 synapsin I gene DOID:0112029 non-syndromic X-linked intellectual disability 50 ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50 PMID:14985377|PMID:21441247|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28973667|PMID:31969655|PMID:36568968|PMID:9415477 8794096 Syn1 synapsin I gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731422 D RGD:7240710 20180130 OMIM 8794096 Syn1 synapsin I gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731422 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:15071120|PMID:16199547|PMID:17576681|PMID:21441247|PMID:23406870|PMID:23871722|PMID:24691301|PMID:25741868|PMID:25741869|PMID:26173895|PMID:26467025|PMID:27884173|PMID:28492532|PMID:28973667|PMID:30390306|PMID:31969655|PMID:32235935|PMID:33526774|PMID:34078716|PMID:34243774|PMID:36568968|PMID:9536098 8794096 Syn1 synapsin I gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:731422 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8794096 Syn1 synapsin I gene DOID:1059 intellectual disability ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:36568968 8794096 Syn1 synapsin I gene DOID:12849 autistic disorder ISO RGD:731422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8794096 Syn1 synapsin I gene DOID:1470 major depressive disorder ISO RGD:731422 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsolateral prefrontal cortex PMID:22885997|REF_RGD_ID:6892958 8794096 Syn1 synapsin I gene DOID:1826 epilepsy ISO RGD:731422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:36568968 8794096 Syn1 synapsin I gene DOID:630 genetic disease ISO RGD:731422 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15071120|PMID:25741868|PMID:26467025|PMID:28492532 8794096 Syn1 synapsin I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 8794096 Syn1 synapsin I gene DOID:9007692 Insulin Resistance ISO RGD:3797 D RGD:9068941 20200609 RGD PMID:29566703|REF_RGD_ID:13542091 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0050635 alternating hemiplegia of childhood ISO RGD:736008 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood PMID:25741868|PMID:28492532 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0050952 spastic ataxia ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0060178 familial hemiplegic migraine ISO RGD:736008 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:11439943|PMID:12023326|PMID:12539047|PMID:14667076|PMID:15159495|PMID:15174025|PMID:15286158|PMID:15459825|PMID:16088919|PMID:16110494|PMID:16199547|PMID:16344534|PMID:16437583|PMID:16538223|PMID:17142831|PMID:17435187|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18414213|PMID:18498390|PMID:18644608|PMID:18728015|PMID:18957371|PMID:19372756|PMID:19458722|PMID:19874388|PMID:20301562|PMID:20720542|PMID:20837964|PMID:21352219|PMID:21398422|PMID:21533730|PMID:22117059|PMID:23821026|PMID:23838748|PMID:23954377|PMID:24396618|PMID:24498617|PMID:24704353|PMID:24921013|PMID:25741868|PMID:26467025|PMID:27066515|PMID:27226003|PMID:27790126|PMID:27864847|PMID:28492532|PMID:28717674|PMID:28811059|PMID:29062094|PMID:29343472|PMID:29778030|PMID:29867740|PMID:29956301|PMID:30185235|PMID:30523548|PMID:30690204|PMID:31737037|PMID:33126486|PMID:33794876|PMID:34384358|PMID:34992632|PMID:35257835|PMID:36044383|PMID:36480001|PMID:36703223|PMID:9536098 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0060484 EAST syndrome ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0070384 developmental and epileptic encephalopathy 98 ISO RGD:736008 D RGD:7240710 20211201 OMIM 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0070384 developmental and epileptic encephalopathy 98 ISO RGD:736008 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 98 PMID:15159495|PMID:15174025|PMID:17877748|PMID:18028456|PMID:18056581|PMID:18414213|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30523548|PMID:33126486|PMID:33880529 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0080918 polymicrogyria ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:31608932 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0111182 familial hemiplegic migraine 2 ISO RGD:736008 D RGD:7240710 20180130 OMIM 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:0111182 familial hemiplegic migraine 2 ISO RGD:736008 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 2 PMID:11439943|PMID:12023326|PMID:12539047|PMID:12953268|PMID:15133718|PMID:15159495|PMID:15174025|PMID:15308625|PMID:15459825|PMID:16037212|PMID:16088919|PMID:16344534|PMID:17435187|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18414213|PMID:18498390|PMID:18728015|PMID:18957371|PMID:19372756|PMID:20301562|PMID:20720542|PMID:20837964|PMID:21172953|PMID:21398422|PMID:21533730|PMID:22117059|PMID:23821026|PMID:23954377|PMID:24096472|PMID:24704353|PMID:24928127|PMID:25138102|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27226003|PMID:27790126|PMID:27818813|PMID:28492532|PMID:28717674|PMID:29413639|PMID:29904856|PMID:30097147|PMID:30523548|PMID:30690204|PMID:31737037|PMID:33126486|PMID:33880529|PMID:34384358|PMID:35257835|PMID:36044383|PMID:9536098|PMID:9579893 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10024 migraine with aura ISO RGD:736008 D RGD:9068941 20200609 RGD PMID:12953268|REF_RGD_ID:1358436 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10763 hypertension ISO RGD:10206 D RGD:9068941 20200609 RGD PMID:16243970|REF_RGD_ID:1601251 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10763 hypertension ISO RGD:2168 D RGD:9068941 20200609 RGD protein:decreased expression:adrenal gland cortex zone PMID:11768735|REF_RGD_ID:1601253 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10763 hypertension ISO RGD:736008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16166162|PMID:16243970 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10763 hypertension susceptibility ISO RGD:736008 D RGD:9068941 20200609 RGD PMID:11257061|REF_RGD_ID:1601254 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:10969 hemiplegia ISO RGD:736008 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:25741868|PMID:28492532 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:14264 benign neonatal seizures ISO RGD:736008 D RGD:9068941 20200609 RGD PMID:12953268|REF_RGD_ID:1358436 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:1540 parathyroid carcinoma ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:1826 epilepsy ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:18644608|PMID:24921013|PMID:25741868|PMID:28492532|PMID:30690204 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:630 genetic disease ISO RGD:736008 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15174025|PMID:16088919|PMID:16538223|PMID:17473835|PMID:17576681|PMID:17877748|PMID:17952365|PMID:18056581|PMID:18414213|PMID:18728015|PMID:18957371|PMID:19458722|PMID:21172953|PMID:22117059|PMID:23954377|PMID:24396618|PMID:24921013|PMID:25741868|PMID:26467025|PMID:27226003|PMID:27818813|PMID:28492532|PMID:29062094|PMID:29413639|PMID:29778030|PMID:29867740|PMID:29904856|PMID:29956301|PMID:30523548|PMID:31053037|PMID:33126486|PMID:34384358|PMID:36044383|PMID:9536098 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:2168 D RGD:9068941 20200609 RGD PMID:18424620|REF_RGD_ID:6903342 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:736008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:16538223|PMID:17473835|PMID:22117059|PMID:25741868|PMID:28492532|PMID:34384358 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001804 FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES ISO RGD:736008 D RGD:7240710 20220209 OMIM 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9001804 FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES ISO RGD:736008 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies PMID:15159495|PMID:15174025|PMID:17142831|PMID:18414213|PMID:18728015|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30523548|PMID:30690204|PMID:31608932|PMID:33126486 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9002079 Paresis ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemiparesis PMID:30311386 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9003936 Cardiomegaly ISO RGD:2168 D RGD:9068941 20200609 RGD PMID:15644428|REF_RGD_ID:6903354 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9005462 Familial Basilar Migraine ISO RGD:736008 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Migraine, familial basilar PMID:16344534|PMID:18498390|PMID:23954377|PMID:25741868|PMID:28492532 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9007692 Insulin Resistance ISO RGD:736008 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:14576983|REF_RGD_ID:1601252 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9009197 Alternating Hemiplegia of Childhood 1 ISO RGD:736008 D RGD:7240710 20190320 OMIM 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9009197 Alternating Hemiplegia of Childhood 1 ISO RGD:736008 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 PMID:11439943|PMID:12023326|PMID:14667076|PMID:15159495|PMID:15174025|PMID:15286158|PMID:16437583|PMID:17473835|PMID:17576681|PMID:17877748|PMID:18056581|PMID:18414213|PMID:18957371|PMID:19372756|PMID:19874388|PMID:20301562|PMID:20837964|PMID:21533730|PMID:23821026|PMID:24921013|PMID:25741868|PMID:26467025|PMID:27790126|PMID:28492532|PMID:28717674|PMID:30423015|PMID:30523548|PMID:31737037|PMID:33126486|PMID:34384358|PMID:35257835|PMID:36044383|PMID:9536098 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9279 hyperhomocysteinemia ISO RGD:2168 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:23467881|REF_RGD_ID:11576285 8794119 Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 gene DOID:9970 obesity susceptibility ISO RGD:10206 D RGD:9068941 20200609 RGD PMID:16286513|REF_RGD_ID:1601250 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1605290 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0050476 Barth syndrome ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:0112003 immunodeficiency 33 ISO RGD:1605290 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:10588 adrenoleukodystrophy ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:12849 autistic disorder ISO RGD:1605290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:13628 favism ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:2729 dyskeratosis congenita ISO RGD:1605290 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:607 paraplegia ISO RGD:1605290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:630 genetic disease ISO RGD:1605290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794146 Pnck pregnancy up-regulated nonubiquitous CaM kinase gene DOID:9002720 Splenomegaly ISO RGD:1605290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8794174 Eri3 ERI1 exoribonuclease family member 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8794174 Eri3 ERI1 exoribonuclease family member 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1318310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8794174 Eri3 ERI1 exoribonuclease family member 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8794174 Eri3 ERI1 exoribonuclease family member 3 gene DOID:630 genetic disease ISO RGD:1318310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794207 Mppe1 metallophosphoesterase 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1319383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8794207 Mppe1 metallophosphoesterase 1 gene DOID:1059 intellectual disability ISO RGD:1319383 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8794207 Mppe1 metallophosphoesterase 1 gene DOID:543 dystonia ISO RGD:1319383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8794207 Mppe1 metallophosphoesterase 1 gene DOID:630 genetic disease ISO RGD:1319383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794231 Tmprss12 transmembrane serine protease 12 gene DOID:630 genetic disease ISO RGD:1606922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794256 Eif2d eukaryotic translation initiation factor 2D gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8794256 Eif2d eukaryotic translation initiation factor 2D gene DOID:12849 autistic disorder ISO RGD:1322883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8794256 Eif2d eukaryotic translation initiation factor 2D gene DOID:1540 parathyroid carcinoma ISO RGD:1322883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8794256 Eif2d eukaryotic translation initiation factor 2D gene DOID:630 genetic disease ISO RGD:1322883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794256 Eif2d eukaryotic translation initiation factor 2D gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322883 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8794256 Eif2d eukaryotic translation initiation factor 2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:727948 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350671 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:0080600 COVID-19 ISO RGD:1350671 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:1168 familial hyperlipidemia ISO RGD:1350671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17932310 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350671 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:630 genetic disease ISO RGD:1350671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:9004484 Sepsis ISO RGD:1331978 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:20647557|REF_RGD_ID:6484531 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:9004484 Sepsis ISO RGD:727948 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:20647557|REF_RGD_ID:6484531 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:727948 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350671 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:9007692 Insulin Resistance ISO RGD:1350671 D RGD:9068941 20200609 RGD PMID:16896940|REF_RGD_ID:1642499 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:9007692 Insulin Resistance treatment ISO RGD:727948 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:9008939 Breast Neoplasms ISO RGD:1350671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961995 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1350671 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:102605C>A PMID:16759305|REF_RGD_ID:1642500 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:9970 obesity ISO RGD:1350671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity, variation in PMID:15863669 8794290 Ppargc1b PPARG coactivator 1 beta gene DOID:9970 obesity resistance ISO RGD:1350671 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A203P PMID:15863669|REF_RGD_ID:1642501 8794318 Cap2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733379 D RGD:9068941 20220825 MouseDO 8794318 Cap2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:630 genetic disease ISO RGD:733378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794318 Cap2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8794318 Cap2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:9001926 Dilated Cardiomyopathy 2I ISO RGD:733378 D RGD:7240710 20230809 OMIM 8794318 Cap2 cyclase associated actin cytoskeleton regulatory protein 2 gene DOID:9001926 Dilated Cardiomyopathy 2I ISO RGD:733378 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2I PMID:25741868|PMID:30518548|PMID:33083013|PMID:34862840 8794334 APOA1 apolipoprotein A1 gene DOID:9006646 Metabolic Syndrome ISO RGD:735962 D RGD:9068941 20200609 RGD DNA: polymorphism: :G2, G3 and G5 PMID:21410987|REF_RGD_ID:5508220 8794334 Apoa1 apolipoprotein A1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735962 D RGD:9068941 20200609 RGD protein: decreased expression: respiratory system fluid/secretion PMID:20463180|REF_RGD_ID:5508222 8794334 Apoa1 apolipoprotein A1 gene DOID:0050636 familial visceral amyloidosis ISO RGD:735962 D RGD:7240710 20180130 OMIM 8794334 Apoa1 apolipoprotein A1 gene DOID:0050636 familial visceral amyloidosis ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyloidosis, cardiac and cutaneous | ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:10198255|PMID:10487826|PMID:12050338|PMID:1502149|PMID:17303779|PMID:1901417|PMID:20884842|PMID:2108924|PMID:2123470|PMID:21443680|PMID:21820994|PMID:23209431|PMID:23770607|PMID:23806608|PMID:24081495|PMID:25034063|PMID:25741868|PMID:26530418|PMID:26562506|PMID:26605794|PMID:27135400|PMID:27785680|PMID:28492532|PMID:29083407|PMID:29353225|PMID:30184436|PMID:30333156|PMID:3141894|PMID:3142462|PMID:32041611|PMID:32666307|PMID:4304452|PMID:8675681|PMID:9916936 8794334 Apoa1 apolipoprotein A1 gene DOID:0050700 cardiomyopathy ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 8794334 Apoa1 apolipoprotein A1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8794334 Apoa1 apolipoprotein A1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8794334 Apoa1 apolipoprotein A1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:10173 D RGD:9068941 20200609 RGD PMID:26420354|REF_RGD_ID:25671437 8794334 Apoa1 apolipoprotein A1 gene DOID:0080322 polycystic kidney disease ISO RGD:736547 D RGD:9068941 20200609 RGD PMID:19637234|REF_RGD_ID:7241572 8794334 Apoa1 apolipoprotein A1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:2130 D RGD:9068941 20200609 RGD mRNA, protein: increased expression:liver, serum (rat) PMID:30187493|REF_RGD_ID:25671434 8794334 Apoa1 apolipoprotein A1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:735962 D RGD:9068941 20200609 RGD human gene in mouse model PMID:24793484|REF_RGD_ID:21408551 8794334 Apoa1 apolipoprotein A1 gene DOID:0080690 RASopathy ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8794334 Apoa1 apolipoprotein A1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:735962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 PMID:17303779|PMID:1898657|PMID:1901417|PMID:20884842|PMID:21443680|PMID:21820994|PMID:23209431|PMID:23770607|PMID:23806608|PMID:24081495|PMID:25034063|PMID:25741868|PMID:26530418|PMID:26562506|PMID:26605794|PMID:27135400|PMID:27785680|PMID:28492532|PMID:28870971|PMID:29083407|PMID:29353225|PMID:30184436|PMID:30333156|PMID:32041611|PMID:32666307|PMID:8240372 8794334 Apoa1 apolipoprotein A1 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:735962 D RGD:7240710 20180130 OMIM 8794334 Apoa1 apolipoprotein A1 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: APOA1-related condition | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2, intermediate PMID:1901417|PMID:2108924|PMID:2123470|PMID:23209431|PMID:2506176|PMID:2512329|PMID:25741868|PMID:26530418|PMID:28492532|PMID:29083407|PMID:29353225|PMID:3141894|PMID:3142462|PMID:4304452|PMID:6800349|PMID:7981179|PMID:9514407|PMID:9931341 8794334 Apoa1 apolipoprotein A1 gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18458655 8794334 Apoa1 apolipoprotein A1 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:735962 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 PMID:19559397 8794334 Apoa1 apolipoprotein A1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8794334 Apoa1 apolipoprotein A1 gene DOID:0111123 nephronophthisis 15 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8794334 Apoa1 apolipoprotein A1 gene DOID:0111971 immunodeficiency 18 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8794334 Apoa1 apolipoprotein A1 gene DOID:0111972 immunodeficiency 19 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8794334 Apoa1 apolipoprotein A1 gene DOID:0111973 immunodeficiency 17 ISO RGD:735962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8794334 Apoa1 apolipoprotein A1 gene DOID:1059 intellectual disability ISO RGD:735962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8794334 Apoa1 apolipoprotein A1 gene DOID:10652 Alzheimer's disease resistance ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:19863188|REF_RGD_ID:5508218 8794334 Apoa1 apolipoprotein A1 gene DOID:10652 Alzheimer's disease resistance ISO RGD:735962 D RGD:9068941 20200609 RGD DNA: : :transgenic model PMID:20847045|REF_RGD_ID:5508212 8794334 Apoa1 apolipoprotein A1 gene DOID:10763 hypertension ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:23401751|REF_RGD_ID:7241867 8794334 Apoa1 apolipoprotein A1 gene DOID:10763 hypertension ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18224302 8794334 Apoa1 apolipoprotein A1 gene DOID:10976 membranous glomerulonephritis ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7900854 8794334 Apoa1 apolipoprotein A1 gene DOID:11446 sciatic neuropathy ISO RGD:2130 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:2493483|REF_RGD_ID:7495790 8794334 Apoa1 apolipoprotein A1 gene DOID:11512 Budd-Chiari syndrome ISO RGD:735962 D RGD:9068941 20200609 RGD protein: decreased expression: plasma (human) PMID:21145806|REF_RGD_ID:25671435 8794334 Apoa1 apolipoprotein A1 gene DOID:1184 nephrotic syndrome ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:18614621|REF_RGD_ID:2313652 8794334 Apoa1 apolipoprotein A1 gene DOID:13241 Behcet's disease ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 8794334 Apoa1 apolipoprotein A1 gene DOID:1387 hypolipoproteinemia ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:9931341|REF_RGD_ID:734583 8794334 Apoa1 apolipoprotein A1 gene DOID:1388 Tangier disease ISO RGD:735962 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Tangier disease PMID:25341944|PMID:25741868|PMID:28492532|PMID:7583566|PMID:7981179|PMID:8282791 8794334 Apoa1 apolipoprotein A1 gene DOID:1391 Norum disease ISO RGD:735962 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (GIESSEN) PMID:28492532|PMID:6489332|PMID:7082443 8794334 Apoa1 apolipoprotein A1 gene DOID:14330 Parkinson's disease ISO RGD:735962 D RGD:9068941 20200609 RGD protein: altered expression: cerebrospinal fluid: 2 different isoforms PMID:20085559|REF_RGD_ID:5508216 8794334 Apoa1 apolipoprotein A1 gene DOID:1470 major depressive disorder susceptibility ISO RGD:2130 D RGD:9068941 20200609 RGD protein: increased expression: cerebrospinal fluid PMID:20580919|REF_RGD_ID:5128563 8794334 Apoa1 apolipoprotein A1 gene DOID:1790 malignant mesothelioma ISO RGD:735962 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 8794334 Apoa1 apolipoprotein A1 gene DOID:1793 pancreatic cancer ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17312459|REF_RGD_ID:2325758 8794334 Apoa1 apolipoprotein A1 gene DOID:1793 pancreatic cancer ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17332923|REF_RGD_ID:2325757 8794334 Apoa1 apolipoprotein A1 gene DOID:1883 hepatitis C severity ISO RGD:735962 D RGD:9068941 20200609 RGD associated with liver cirrhosis; protein:decreased expression:serum (human) PMID:19818291|REF_RGD_ID:25671441 8794334 Apoa1 apolipoprotein A1 gene DOID:1936 atherosclerosis ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:23078847|REF_RGD_ID:7241852 8794334 Apoa1 apolipoprotein A1 gene DOID:1936 atherosclerosis ISO RGD:735962 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33861588 8794334 Apoa1 apolipoprotein A1 gene DOID:1936 atherosclerosis treatment ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:18287885|REF_RGD_ID:7241575 8794334 Apoa1 apolipoprotein A1 gene DOID:2349 arteriosclerosis treatment ISO RGD:2130 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:20639628|REF_RGD_ID:5508221 8794334 Apoa1 apolipoprotein A1 gene DOID:2377 multiple sclerosis ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression: serum PMID:20350318|REF_RGD_ID:5508215 8794334 Apoa1 apolipoprotein A1 gene DOID:2671 transitional cell carcinoma ISO RGD:2130 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:19399409|REF_RGD_ID:2325183 8794334 Apoa1 apolipoprotein A1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:21496341|REF_RGD_ID:7241214 8794334 Apoa1 apolipoprotein A1 gene DOID:299 adenocarcinoma ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8794334 Apoa1 apolipoprotein A1 gene DOID:3146 lipid metabolism disorder ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6816881 8794334 Apoa1 apolipoprotein A1 gene DOID:3393 coronary artery disease ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27135400 8794334 Apoa1 apolipoprotein A1 gene DOID:3393 coronary artery disease ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:2128269|REF_RGD_ID:1601188 8794334 Apoa1 apolipoprotein A1 gene DOID:3770 pulmonary fibrosis ISO RGD:10173 D RGD:9068941 20200609 RGD protein:decreased expression: respiratory system fluid/secretion PMID:20463180|REF_RGD_ID:5508222 8794334 Apoa1 apolipoprotein A1 gene DOID:3910 lung adenocarcinoma ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8794334 Apoa1 apolipoprotein A1 gene DOID:4947 cholangiocarcinoma ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19486127|REF_RGD_ID:2325756 8794334 Apoa1 apolipoprotein A1 gene DOID:5082 liver cirrhosis ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:27106140|REF_RGD_ID:25671439 8794334 Apoa1 apolipoprotein A1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12646808 8794334 Apoa1 apolipoprotein A1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:735962 D RGD:9068941 20220908 RGD PMID:26996551|REF_RGD_ID:11561502 8794334 Apoa1 apolipoprotein A1 gene DOID:5844 myocardial infarction ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:20176799|REF_RGD_ID:2325759 8794334 Apoa1 apolipoprotein A1 gene DOID:5844 myocardial infarction no_association ISO RGD:735962 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:10428310|REF_RGD_ID:1578442 8794334 Apoa1 apolipoprotein A1 gene DOID:6000 congestive heart failure ISO RGD:735962 D RGD:9068941 20200609 RGD protein: decreased expression: serum PMID:17517342|REF_RGD_ID:5508219 8794334 Apoa1 apolipoprotein A1 gene DOID:630 genetic disease ISO RGD:735962 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8794334 Apoa1 apolipoprotein A1 gene DOID:684 hepatocellular carcinoma ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8794334 Apoa1 apolipoprotein A1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:23935864|REF_RGD_ID:25671438 8794334 Apoa1 apolipoprotein A1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735962 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 8794334 Apoa1 apolipoprotein A1 gene DOID:687 hepatoblastoma ISO RGD:735962 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:serum (human) PMID:27974108|REF_RGD_ID:25671440 8794334 Apoa1 apolipoprotein A1 gene DOID:783 end stage renal disease ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:22515595|REF_RGD_ID:7241208 8794334 Apoa1 apolipoprotein A1 gene DOID:783 end stage renal disease ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression, increased glycation:plasma PMID:18079481|REF_RGD_ID:7241576 8794334 Apoa1 apolipoprotein A1 gene DOID:783 end stage renal disease treatment ISO RGD:10173 D RGD:9068941 20200609 RGD associated with Hyperlipidemias PMID:20488818|REF_RGD_ID:7241571 8794334 Apoa1 apolipoprotein A1 gene DOID:784 chronic kidney disease ISO RGD:735962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 8794334 Apoa1 apolipoprotein A1 gene DOID:7998 hyperthyroidism ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:1466661|REF_RGD_ID:1599158 8794334 Apoa1 apolipoprotein A1 gene DOID:9000197 Edema ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20972769 8794334 Apoa1 apolipoprotein A1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 8794334 Apoa1 apolipoprotein A1 gene DOID:9000543 Death ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20972769 8794334 Apoa1 apolipoprotein A1 gene DOID:9000808 Hypercholesterolemia ISO RGD:735962 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-75G>A, 83C>T (human) PMID:16309370|REF_RGD_ID:1601184 8794334 Apoa1 apolipoprotein A1 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III PMID:2123470|PMID:25741868|PMID:3142462|PMID:4304452 8794334 Apoa1 apolipoprotein A1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:2123716|REF_RGD_ID:1599161 8794334 Apoa1 apolipoprotein A1 gene DOID:9002117 Hypoalphalipoproteinemias ISO RGD:735962 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY PMID:1901417|PMID:2108924|PMID:2123470|PMID:23209431|PMID:25741868|PMID:26530418|PMID:28492532|PMID:29083407|PMID:29353225|PMID:3141894|PMID:3142462|PMID:4304452 8794334 Apoa1 apolipoprotein A1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:9829487|REF_RGD_ID:2313960 8794334 Apoa1 apolipoprotein A1 gene DOID:9002513 Hypoproteinemia ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:2123716|REF_RGD_ID:1599161 8794334 Apoa1 apolipoprotein A1 gene DOID:9002669 Hypoxia ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 8794334 Apoa1 apolipoprotein A1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8794334 Apoa1 apolipoprotein A1 gene DOID:9004283 Transplant Rejection ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21730889|REF_RGD_ID:7241209 8794334 Apoa1 apolipoprotein A1 gene DOID:9004484 Sepsis treatment ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:19561306|REF_RGD_ID:7241869 8794334 Apoa1 apolipoprotein A1 gene DOID:9004492 Familial Amyloidosis ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:22495291|REF_RGD_ID:7241855 8794334 Apoa1 apolipoprotein A1 gene DOID:9004581 Pediatric Obesity ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 8794334 Apoa1 apolipoprotein A1 gene DOID:9004610 Acute Lung Injury ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20972769 8794334 Apoa1 apolipoprotein A1 gene DOID:9005172 Lung Neoplasms ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532 8794334 Apoa1 apolipoprotein A1 gene DOID:9005236 Drug Eruptions ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 8794334 Apoa1 apolipoprotein A1 gene DOID:9005372 Inflammation ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20972769 8794334 Apoa1 apolipoprotein A1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735962 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-75G>A (human) PMID:9699897|REF_RGD_ID:1601186 8794334 Apoa1 apolipoprotein A1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:17488882|REF_RGD_ID:7241577 8794334 Apoa1 apolipoprotein A1 gene DOID:9005930 Endotoxemia treatment ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:23227448|REF_RGD_ID:7241868 8794334 Apoa1 apolipoprotein A1 gene DOID:9005930 Endotoxemia treatment ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:18593575|REF_RGD_ID:7241573 8794334 Apoa1 apolipoprotein A1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:18535924|REF_RGD_ID:7241574 8794334 Apoa1 apolipoprotein A1 gene DOID:9006599 Hypertriglyceridemia no_association ISO RGD:735962 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-75G>A PMID:7910586|REF_RGD_ID:1601187 8794334 Apoa1 apolipoprotein A1 gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:2130 D RGD:9068941 20230831 RGD PMID:23644946|REF_RGD_ID:401794573 8794334 Apoa1 apolipoprotein A1 gene DOID:9006646 Metabolic Syndrome ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:17217166|REF_RGD_ID:1601183 8794334 Apoa1 apolipoprotein A1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18332268 8794334 Apoa1 apolipoprotein A1 gene DOID:9007096 Stroke ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19433014 8794334 Apoa1 apolipoprotein A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8794334 Apoa1 apolipoprotein A1 gene DOID:9007389 Acute Tubulointerstitial Nephritis ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:22659101|REF_RGD_ID:7241207 8794334 Apoa1 apolipoprotein A1 gene DOID:9007661 Dwarfism ISO RGD:735962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8794334 Apoa1 apolipoprotein A1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:735962 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, serum (human) PMID:27015844|REF_RGD_ID:25671432 8794334 Apoa1 apolipoprotein A1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression PMID:21726101|REF_RGD_ID:5508214 8794334 Apoa1 apolipoprotein A1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:25115832|REF_RGD_ID:25671433 8794334 Apoa1 apolipoprotein A1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:735962 D RGD:9068941 20200609 RGD PMID:20131231|REF_RGD_ID:7241864 8794334 Apoa1 apolipoprotein A1 gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:10173 D RGD:9068941 20200609 RGD PMID:20482780|REF_RGD_ID:7241863 8794334 Apoa1 apolipoprotein A1 gene DOID:9246 cerebral amyloid angiopathy ISO RGD:10173 D RGD:9068941 20200609 RGD PMID:20739292|REF_RGD_ID:5508213 8794334 Apoa1 apolipoprotein A1 gene DOID:9282 ocular hypertension ISO RGD:2130 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18626730|REF_RGD_ID:2303613 8794334 Apoa1 apolipoprotein A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735962 D RGD:9068941 20200609 RGD protein:altered localization:plasma lipoprotein particle PMID:9649952|REF_RGD_ID:2313961 8794334 Apoa1 apolipoprotein A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression, increased glycation:plasma PMID:18079481|REF_RGD_ID:7241576 8794334 Apoa1 apolipoprotein A1 gene DOID:9452 steatotic liver disease treatment ISO RGD:2130 D RGD:9068941 20200609 RGD PMID:30231880|REF_RGD_ID:25671436 8794334 Apoa1 apolipoprotein A1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735962 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9578960|REF_RGD_ID:2313962 8794334 Apoa1 apolipoprotein A1 gene DOID:9970 obesity ISO RGD:10173 D RGD:9068941 20200609 RGD PMID:9933608|REF_RGD_ID:2313959 8794334 Apoa1 apolipoprotein A1 gene DOID:9970 obesity ISO RGD:735962 D RGD:9068941 20200609 RGD protein:decreased expression PMID:12725089|REF_RGD_ID:1601185 8794359 Pgam2 phosphoglycerate mutase 2 gene DOID:0080108 myoglobinuria ISO RGD:68971 D RGD:9068941 20200609 RGD PMID:8447317|REF_RGD_ID:1599129 8794359 Pgam2 phosphoglycerate mutase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8794359 Pgam2 phosphoglycerate mutase 2 gene DOID:630 genetic disease ISO RGD:68971 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8794359 Pgam2 phosphoglycerate mutase 2 gene DOID:9000884 Rhabdomyolysis ISO RGD:68971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:28779239 8794359 Pgam2 phosphoglycerate mutase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8794359 Pgam2 phosphoglycerate mutase 2 gene DOID:9005787 Dimauro Disease ISO RGD:68971 D RGD:7240710 20180130 OMIM 8794359 Pgam2 phosphoglycerate mutase 2 gene DOID:9005787 Dimauro Disease ISO RGD:68971 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dimauro disease | ClinVar Annotator: match by term: GSD X | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency PMID:10545043|PMID:16881065|PMID:17576681|PMID:18852891|PMID:19273759|PMID:19322572|PMID:19783439|PMID:21444020|PMID:22995991|PMID:23169535|PMID:23335027|PMID:25741868|PMID:26502762|PMID:27612597|PMID:28492532|PMID:28944235|PMID:2987758|PMID:30310767|PMID:33782433|PMID:34237446|PMID:6308514|PMID:8447317|PMID:9536098 8794366 Znf573 zinc finger protein 573 gene DOID:630 genetic disease ISO RGD:1350499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794379 Heyl hes related family bHLH transcription factor with YRPW motif like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8794379 Heyl hes related family bHLH transcription factor with YRPW motif like gene DOID:630 genetic disease ISO RGD:1312805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794379 Heyl hes related family bHLH transcription factor with YRPW motif like gene DOID:9006182 Carotid Artery Injuries ISO RGD:1305022 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 8794379 Heyl hes related family bHLH transcription factor with YRPW motif like gene DOID:9008939 Breast Neoplasms ISO RGD:1312805 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 8794402 Il1a interleukin 1 alpha gene DOID:0050152 aspiration pneumonia ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:18042282|REF_RGD_ID:4142854 8794402 Il1a interleukin 1 alpha gene DOID:0050697 chorioamnionitis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21493953 8794402 Il1a interleukin 1 alpha gene DOID:0050700 cardiomyopathy ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8794402 Il1a interleukin 1 alpha gene DOID:0060496 respiratory allergy ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:12663678|REF_RGD_ID:4143222 8794402 Il1a interleukin 1 alpha gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 8794402 Il1a interleukin 1 alpha gene DOID:0080642 Middle East respiratory syndrome onset ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8794402 Il1a interleukin 1 alpha gene DOID:0080745 polymyositis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8794402 Il1a interleukin 1 alpha gene DOID:0080784 urinary tract infection ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:21690238|REF_RGD_ID:6907113 8794402 Il1a interleukin 1 alpha gene DOID:0080784 urinary tract infection ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19171043|REF_RGD_ID:2311084 8794402 Il1a interleukin 1 alpha gene DOID:0081120 Graves ophthalmopathy ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:8444271|REF_RGD_ID:7794734 8794402 Il1a interleukin 1 alpha gene DOID:0081267 graft-versus-host disease ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-889T>C (rs1800587) (human) PMID:23645090|REF_RGD_ID:11049180 8794402 Il1a interleukin 1 alpha gene DOID:1002 endometritis ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:25330821|REF_RGD_ID:11059518 8794402 Il1a interleukin 1 alpha gene DOID:10126 keratoconus ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2071376 (human) PMID:19043479|REF_RGD_ID:7794709 8794402 Il1a interleukin 1 alpha gene DOID:10223 dermatomyositis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035492 8794402 Il1a interleukin 1 alpha gene DOID:10327 anthracosis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 8794402 Il1a interleukin 1 alpha gene DOID:10459 common cold ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:10358201|REF_RGD_ID:4143183 8794402 Il1a interleukin 1 alpha gene DOID:10652 Alzheimer's disease ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell, cortical layer: PMID:9775393|REF_RGD_ID:10046059 8794402 Il1a interleukin 1 alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:5'UTR:rs1800587(human) PMID:11402127|REF_RGD_ID:10045947 8794402 Il1a interleukin 1 alpha gene DOID:10652 Alzheimer's disease no_association ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:5'UTR:rs1800587(human) PMID:19158434|REF_RGD_ID:10045945 8794402 Il1a interleukin 1 alpha gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:10716257|REF_RGD_ID:1358667 8794402 Il1a interleukin 1 alpha gene DOID:10754 otitis media ISO RGD:2890 D RGD:9068941 20200609 RGD associated with Haemophilus Infections;mRNA, protein:increased expression:middle ear PMID:18524391|REF_RGD_ID:4891398 8794402 Il1a interleukin 1 alpha gene DOID:10914 amnestic disorder ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8003924 8794402 Il1a interleukin 1 alpha gene DOID:10964 cholesteatoma of middle ear ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:12768791|PMID:7503375|REF_RGD_ID:11059515|REF_RGD_ID:7794712 8794402 Il1a interleukin 1 alpha gene DOID:11030 corneal edema ISO RGD:735707 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:7657553|REF_RGD_ID:7794733 8794402 Il1a interleukin 1 alpha gene DOID:11476 osteoporosis ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:10555884|REF_RGD_ID:6907107 8794402 Il1a interleukin 1 alpha gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:8790403|REF_RGD_ID:10045948 8794402 Il1a interleukin 1 alpha gene DOID:12241 beta thalassemia ISO RGD:735707 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, mononuclear cell PMID:21576933|REF_RGD_ID:11051969 8794402 Il1a interleukin 1 alpha gene DOID:12306 vitiligo ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 8794402 Il1a interleukin 1 alpha gene DOID:12306 vitiligo ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16911396|REF_RGD_ID:7794736 8794402 Il1a interleukin 1 alpha gene DOID:12337 varicocele ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:16616101|REF_RGD_ID:2311094 8794402 Il1a interleukin 1 alpha gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 8794402 Il1a interleukin 1 alpha gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8794402 Il1a interleukin 1 alpha gene DOID:12934 Kearns-Sayre syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8794402 Il1a interleukin 1 alpha gene DOID:13141 uveitis ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:8125721|REF_RGD_ID:7401166 8794402 Il1a interleukin 1 alpha gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:8699818|REF_RGD_ID:7794730 8794402 Il1a interleukin 1 alpha gene DOID:13250 diarrhea ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9278552 8794402 Il1a interleukin 1 alpha gene DOID:13580 cholestasis ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19535096|REF_RGD_ID:2311076 8794402 Il1a interleukin 1 alpha gene DOID:14499 Fabry disease ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-889C>T (human) PMID:17353161|REF_RGD_ID:6907117 8794402 Il1a interleukin 1 alpha gene DOID:1485 cystic fibrosis severity ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8333775|REF_RGD_ID:4142849 8794402 Il1a interleukin 1 alpha gene DOID:1790 malignant mesothelioma ISO RGD:735707 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8794402 Il1a interleukin 1 alpha gene DOID:1793 pancreatic cancer ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:7787209|REF_RGD_ID:2311069 8794402 Il1a interleukin 1 alpha gene DOID:2316 brain ischemia ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 8794402 Il1a interleukin 1 alpha gene DOID:2841 asthma ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:18763028|REF_RGD_ID:4142802 8794402 Il1a interleukin 1 alpha gene DOID:2921 glomerulonephritis ISO RGD:10789 D RGD:9068941 20200609 RGD associated with Malaria PMID:10469263|REF_RGD_ID:6907108 8794402 Il1a interleukin 1 alpha gene DOID:2945 severe acute respiratory syndrome ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8794402 Il1a interleukin 1 alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:9176116|REF_RGD_ID:4142835 8794402 Il1a interleukin 1 alpha gene DOID:2986 IgA glomerulonephritis no_association ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:21049406|REF_RGD_ID:6907116 8794402 Il1a interleukin 1 alpha gene DOID:3021 acute kidney failure ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:21716595|REF_RGD_ID:6907069 8794402 Il1a interleukin 1 alpha gene DOID:3042 allergic contact dermatitis ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23178550 8794402 Il1a interleukin 1 alpha gene DOID:3082 interstitial lung disease ISO RGD:2890 D RGD:9068941 20200609 RGD associated with Immune Complex Diseases PMID:1826836|REF_RGD_ID:7794767 8794402 Il1a interleukin 1 alpha gene DOID:3082 interstitial lung disease susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD associated with sclerosis: DNA:SNPs:5' UTR, exon, intron: PMID:12528118|REF_RGD_ID:4142806 8794402 Il1a interleukin 1 alpha gene DOID:310 MERRF Syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8794402 Il1a interleukin 1 alpha gene DOID:3687 MELAS syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8794402 Il1a interleukin 1 alpha gene DOID:37 skin disease ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:8524866|REF_RGD_ID:7794729 8794402 Il1a interleukin 1 alpha gene DOID:37 skin disease ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338|PMID:22533443 8794402 Il1a interleukin 1 alpha gene DOID:3770 pulmonary fibrosis ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:alveolar macrophage PMID:9100454|REF_RGD_ID:4142838 8794402 Il1a interleukin 1 alpha gene DOID:3770 pulmonary fibrosis ISO RGD:735707 D RGD:9068941 20200609 RGD idiopathic pulmonary fibrosis; DNA:polymorphism:promoter: PMID:17309781|REF_RGD_ID:4142803 8794402 Il1a interleukin 1 alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19505916|REF_RGD_ID:4142793 8794402 Il1a interleukin 1 alpha gene DOID:4109 tick infestation ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:7835923|REF_RGD_ID:7794724 8794402 Il1a interleukin 1 alpha gene DOID:4195 hyperglycemia ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma PMID:18211631|REF_RGD_ID:2311062 8794402 Il1a interleukin 1 alpha gene DOID:4371 Schnitzler syndrome ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:1831824|REF_RGD_ID:7794711 8794402 Il1a interleukin 1 alpha gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 8794402 Il1a interleukin 1 alpha gene DOID:552 pneumonia ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:8806881|REF_RGD_ID:7794765 8794402 Il1a interleukin 1 alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 8794402 Il1a interleukin 1 alpha gene DOID:630 genetic disease ISO RGD:735707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794402 Il1a interleukin 1 alpha gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-889C>T (human) PMID:8162643|REF_RGD_ID:7794716 8794402 Il1a interleukin 1 alpha gene DOID:699 mitochondrial myopathy ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8794402 Il1a interleukin 1 alpha gene DOID:705 Leber hereditary optic neuropathy ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8794402 Il1a interleukin 1 alpha gene DOID:7148 rheumatoid arthritis ISO RGD:735707 D RGD:9068941 20200609 RGD associated with lung disease, interstitial PMID:11192540|REF_RGD_ID:4142818 8794402 Il1a interleukin 1 alpha gene DOID:7148 rheumatoid arthritis severity ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:plasma, synovial fluid PMID:8162643|REF_RGD_ID:7794716 8794402 Il1a interleukin 1 alpha gene DOID:783 end stage renal disease ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP, insertion/deletion:intron, 3' utr:rs1516792-3, rs16347-2 (human) PMID:12837270|REF_RGD_ID:6907105 8794402 Il1a interleukin 1 alpha gene DOID:783 end stage renal disease ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNPs, deletion, haplotypes:3' utr:multiple (human) PMID:12631337|REF_RGD_ID:6907106 8794402 Il1a interleukin 1 alpha gene DOID:783 end stage renal disease no_association ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP PMID:20551628|REF_RGD_ID:6907070 8794402 Il1a interleukin 1 alpha gene DOID:824 periodontitis ISO RGD:735707 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:22795294|REF_RGD_ID:6906881 8794402 Il1a interleukin 1 alpha gene DOID:8398 osteoarthritis ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:chonodrocyte: PMID:9497936|REF_RGD_ID:10047053 8794402 Il1a interleukin 1 alpha gene DOID:841 extrinsic allergic alveolitis ISO RGD:10789 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar Lavage Fluid PMID:10882225|REF_RGD_ID:4142832 8794402 Il1a interleukin 1 alpha gene DOID:850 lung disease ISO RGD:10789 D RGD:9068941 20200609 RGD lung injury; mRNA:increased expression:lung PMID:12377989|PMID:12745880|REF_RGD_ID:4142805|REF_RGD_ID:4142809 8794402 Il1a interleukin 1 alpha gene DOID:850 lung disease ISO RGD:735707 D RGD:9068941 20200609 RGD radiation pneumonitis; protein:increased expression:plasma PMID:11917281|REF_RGD_ID:4142811 8794402 Il1a interleukin 1 alpha gene DOID:869 cholesteatoma ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:1384343|REF_RGD_ID:7401205 8794402 Il1a interleukin 1 alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-899C>T (human) PMID:21591983|REF_RGD_ID:11051966 8794402 Il1a interleukin 1 alpha gene DOID:8947 diabetic retinopathy ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 8794402 Il1a interleukin 1 alpha gene DOID:9000046 Poisoning treatment ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:1868253|REF_RGD_ID:11051971 8794402 Il1a interleukin 1 alpha gene DOID:9000046 Poisoning treatment ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:2258610|REF_RGD_ID:11059514 8794402 Il1a interleukin 1 alpha gene DOID:9000111 Radiation Injuries ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:7938676|REF_RGD_ID:7794763 8794402 Il1a interleukin 1 alpha gene DOID:9000540 HIV Wasting Syndrome ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8794402 Il1a interleukin 1 alpha gene DOID:9000918 Disease Progression ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 8794402 Il1a interleukin 1 alpha gene DOID:9000972 Fever ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 8794402 Il1a interleukin 1 alpha gene DOID:9000998 Brain Injuries ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:16024175|REF_RGD_ID:2311098 8794402 Il1a interleukin 1 alpha gene DOID:9000998 Brain Injuries ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8794402 Il1a interleukin 1 alpha gene DOID:9001109 Anorexia ISO RGD:2890 D RGD:9068941 20200609 RGD associated with Sarcoma, Experimental;protein:increased expression:cerebrospinal fluid PMID:8748250|REF_RGD_ID:7794755 8794402 Il1a interleukin 1 alpha gene DOID:9001472 Nasal Polyps ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNPs:exon: PMID:17638785|REF_RGD_ID:4142855 8794402 Il1a interleukin 1 alpha gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphism:exon: PMID:12752325|REF_RGD_ID:4142804 8794402 Il1a interleukin 1 alpha gene DOID:9001488 Human Influenza ISO RGD:10789 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11535264|REF_RGD_ID:4142860 8794402 Il1a interleukin 1 alpha gene DOID:9001600 Wounds and Injuries ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:18638276|REF_RGD_ID:2311088 8794402 Il1a interleukin 1 alpha gene DOID:9001708 Hemorrhagic Shock ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15580020|REF_RGD_ID:2311100 8794402 Il1a interleukin 1 alpha gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:7890488|REF_RGD_ID:7401191 8794402 Il1a interleukin 1 alpha gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2890 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19595018|REF_RGD_ID:2314952 8794402 Il1a interleukin 1 alpha gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19283466|REF_RGD_ID:6907377 8794402 Il1a interleukin 1 alpha gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:9840148|REF_RGD_ID:11059517 8794402 Il1a interleukin 1 alpha gene DOID:9002211 Hyperalgesia ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12727271 8794402 Il1a interleukin 1 alpha gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:19074885|REF_RGD_ID:11051968 8794402 Il1a interleukin 1 alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:735707 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:11005132|REF_RGD_ID:2311066 8794402 Il1a interleukin 1 alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:9497937|REF_RGD_ID:10046057 8794402 Il1a interleukin 1 alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:cartilage cell: PMID:24534736|REF_RGD_ID:10045944 8794402 Il1a interleukin 1 alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:9034998|REF_RGD_ID:10045946 8794402 Il1a interleukin 1 alpha gene DOID:9002457 Experimental Arthritis ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:20379758|REF_RGD_ID:6907373 8794402 Il1a interleukin 1 alpha gene DOID:9002457 Experimental Arthritis ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19169271|REF_RGD_ID:8662976 8794402 Il1a interleukin 1 alpha gene DOID:9002805 Enterocolitis ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:8144001|REF_RGD_ID:2311103 8794402 Il1a interleukin 1 alpha gene DOID:9003036 Oral Lichen Planus treatment ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:16476030|REF_RGD_ID:7794728 8794402 Il1a interleukin 1 alpha gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:-889C>T (human) PMID:18484169|REF_RGD_ID:4142867 8794402 Il1a interleukin 1 alpha gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:c.4845G>T (human) PMID:14533660|REF_RGD_ID:4142859 8794402 Il1a interleukin 1 alpha gene DOID:9003730 Chemical Burns ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 8794402 Il1a interleukin 1 alpha gene DOID:9003871 Venous Thrombosis ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:17651586|REF_RGD_ID:2311092 8794402 Il1a interleukin 1 alpha gene DOID:9004009 Reperfusion Injury ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 8794402 Il1a interleukin 1 alpha gene DOID:9004118 Experimental Melanoma treatment ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:8061895|REF_RGD_ID:7794735 8794402 Il1a interleukin 1 alpha gene DOID:9004441 Experimental Leukemia treatment ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:2117483|REF_RGD_ID:11051972 8794402 Il1a interleukin 1 alpha gene DOID:9004464 Skin Neoplasms ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8435107 8794402 Il1a interleukin 1 alpha gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung PMID:7666093|REF_RGD_ID:11051963 8794402 Il1a interleukin 1 alpha gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung PMID:7666093|REF_RGD_ID:11051963 8794402 Il1a interleukin 1 alpha gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:8151314|REF_RGD_ID:11051964 8794402 Il1a interleukin 1 alpha gene DOID:9004649 Heat Stroke ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19295493|REF_RGD_ID:6907071 8794402 Il1a interleukin 1 alpha gene DOID:9004649 Heat Stroke ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8794402 Il1a interleukin 1 alpha gene DOID:9005372 Inflammation ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21467745|PMID:22163019 8794402 Il1a interleukin 1 alpha gene DOID:9005372 Inflammation ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:2636224|REF_RGD_ID:7794766 8794402 Il1a interleukin 1 alpha gene DOID:9005372 Inflammation treatment ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:8761432|REF_RGD_ID:7794725 8794402 Il1a interleukin 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:20555424|REF_RGD_ID:4142788 8794402 Il1a interleukin 1 alpha gene DOID:9005930 Endotoxemia ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:9636192|REF_RGD_ID:6907109 8794402 Il1a interleukin 1 alpha gene DOID:9005930 Endotoxemia ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22426124|REF_RGD_ID:7794786 8794402 Il1a interleukin 1 alpha gene DOID:9006024 Hypotension ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 8794402 Il1a interleukin 1 alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8794402 Il1a interleukin 1 alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8218930 8794402 Il1a interleukin 1 alpha gene DOID:9007621 Craniocerebral Trauma ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell PMID:7830934|REF_RGD_ID:10045949 8794402 Il1a interleukin 1 alpha gene DOID:9007730 Burns ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10431976 8794402 Il1a interleukin 1 alpha gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:7622355|REF_RGD_ID:7794764 8794402 Il1a interleukin 1 alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:8576926|REF_RGD_ID:7794741 8794402 Il1a interleukin 1 alpha gene DOID:9007896 Sclerosis susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNPs:5' UTR, exon, intron: PMID:12528118|REF_RGD_ID:4142806 8794402 Il1a interleukin 1 alpha gene DOID:9007964 Arsenic Poisoning ISO RGD:735707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8794402 Il1a interleukin 1 alpha gene DOID:9008217 Hemorrhage ISO RGD:2890 D RGD:9068941 20200609 RGD PMID:9326742|REF_RGD_ID:11059516 8794402 Il1a interleukin 1 alpha gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:735707 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1800587,rs17561(human) PMID:20811626|REF_RGD_ID:5131286 8794402 Il1a interleukin 1 alpha gene DOID:9008763 Femoral Fractures ISO RGD:2890 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:21442011|REF_RGD_ID:5131471 8794402 Il1a interleukin 1 alpha gene DOID:9119 acute myeloid leukemia treatment ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:2460157|REF_RGD_ID:11051965 8794402 Il1a interleukin 1 alpha gene DOID:9383 iridocyclitis ISO RGD:735707 D RGD:9068941 20200609 RGD associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human) PMID:8162643|REF_RGD_ID:7794716 8794402 Il1a interleukin 1 alpha gene DOID:9538 multiple myeloma ISO RGD:10789 D RGD:9068941 20200609 RGD PMID:1777241|REF_RGD_ID:11059513 8794402 Il1a interleukin 1 alpha gene DOID:9538 multiple myeloma ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-511C>T (human) PMID:25469832|REF_RGD_ID:11049156 8794402 Il1a interleukin 1 alpha gene DOID:9538 multiple myeloma ISO RGD:735707 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-889C>T (human) PMID:17926179|REF_RGD_ID:11051973 8794402 Il1a interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:10789 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet, leukocyte PMID:8612552|REF_RGD_ID:2311067 8794402 Il1a interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735707 D RGD:9068941 20200609 RGD PMID:17953531|PMID:2405400|REF_RGD_ID:2311064|REF_RGD_ID:2311075 8794402 Il1a interleukin 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735707 D RGD:9068941 20200609 RGD protein:increased expression:small intestine mucosa PMID:12941768|REF_RGD_ID:2311065 8794413 Marco macrophage receptor with collagenous structure gene DOID:0040084 Streptococcus pneumonia exacerbates ISO RGD:1558468 D RGD:9068941 20210226 RGD PMID:15263032|REF_RGD_ID:41412189 8794413 Marco macrophage receptor with collagenous structure gene DOID:0080176 meningococcal meningitis ISO RGD:1589662 D RGD:9068941 20210226 RGD protein:increased expression:sub-cortical, meninges, astrocyte PMID:21299846|REF_RGD_ID:41412190 8794413 Marco macrophage receptor with collagenous structure gene DOID:0080600 COVID-19 ISO RGD:1349062 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8794413 Marco macrophage receptor with collagenous structure gene DOID:10325 silicosis treatment ISO RGD:1589662 D RGD:9068941 20210226 RGD PMID:30391304|REF_RGD_ID:41412200 8794413 Marco macrophage receptor with collagenous structure gene DOID:12053 cryptococcosis disease_progression ISO RGD:1558468 D RGD:9068941 20210226 RGD PMID:28298522|REF_RGD_ID:41412191 8794413 Marco macrophage receptor with collagenous structure gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349062 D RGD:9068941 20210226 RGD DNA:SNP: :rs12998782(human) PMID:28693442|REF_RGD_ID:41412192 8794413 Marco macrophage receptor with collagenous structure gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349062 D RGD:9068941 20210226 RGD DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human) PMID:27853145|REF_RGD_ID:41412194 8794413 Marco macrophage receptor with collagenous structure gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1349062 D RGD:9068941 20210226 RGD DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human) PMID:23617307|REF_RGD_ID:41412195 8794413 Marco macrophage receptor with collagenous structure gene DOID:630 genetic disease ISO RGD:1349062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794413 Marco macrophage receptor with collagenous structure gene DOID:684 hepatocellular carcinoma ISO RGD:1349062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8794413 Marco macrophage receptor with collagenous structure gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1589662 D RGD:9068941 20210226 RGD protein:increased expression:meninges, astrocyte PMID:21299846|REF_RGD_ID:41412190 8794413 Marco macrophage receptor with collagenous structure gene DOID:9000371 influenza A ameliorates ISO RGD:1558468 D RGD:9068941 20210226 RGD PMID:21562316|REF_RGD_ID:41412197 8794413 Marco macrophage receptor with collagenous structure gene DOID:9006732 Clostridium Infections exacerbates ISO RGD:1558468 D RGD:9068941 20210226 RGD PMID:20810988|REF_RGD_ID:41412193 8794413 Marco macrophage receptor with collagenous structure gene DOID:9008559 Bacterial Lung Diseases disease_progression ISO RGD:1558468 D RGD:9068941 20210226 RGD association with Cryptococcal neoformans infection. PMID:28298522|REF_RGD_ID:41412191 8794413 Marco macrophage receptor with collagenous structure gene DOID:9351 diabetes mellitus ISO RGD:1558468 D RGD:9068941 20210226 RGD protein:decreased expression:Alveolar macrophage PMID:27630197|REF_RGD_ID:41412199 8794434 Khdrbs2 KH RNA binding domain containing, signal transduction associated 2 gene DOID:1909 melanoma ISO RGD:1349535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 8794434 Khdrbs2 KH RNA binding domain containing, signal transduction associated 2 gene DOID:630 genetic disease ISO RGD:1349535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794446 Colgalt1 collagen beta(1-O)galactosyltransferase 1 gene DOID:0112315 brain small vessel disease 3 ISO RGD:1344980 D RGD:7240710 20190911 OMIM 8794446 Colgalt1 collagen beta(1-O)galactosyltransferase 1 gene DOID:0112315 brain small vessel disease 3 ISO RGD:1344980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 3 PMID:25741868|PMID:30412317 8794446 Colgalt1 collagen beta(1-O)galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1344980 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33077954 8794446 Colgalt1 collagen beta(1-O)galactosyltransferase 1 gene DOID:8725 vascular dementia ISO RGD:1344980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:0060019 coronin-1A deficiency ISO RGD:2306470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:2306470 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:2306470 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:2306470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:2306470 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:2306470 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:1227 neutropenia ISO RGD:2306470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:12849 autistic disorder ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:5419 schizophrenia ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:630 genetic disease ISO RGD:2306470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:2306470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8794461 CUNH16orf92 chromosome unknown C16orf92 homolog gene DOID:9007876 Cone-Rod Dystrophy 22 ISO RGD:2306470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 22 PMID:33077892 8794476 Stimate STIM activating enhancer gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1602041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8794491 Adm2 adrenomedullin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8794491 Adm2 adrenomedullin 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1348112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8794491 Adm2 adrenomedullin 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8794491 Adm2 adrenomedullin 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8794491 Adm2 adrenomedullin 2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1348112 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 8794491 Adm2 adrenomedullin 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1348112 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8794491 Adm2 adrenomedullin 2 gene DOID:1059 intellectual disability ISO RGD:1348112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8794491 Adm2 adrenomedullin 2 gene DOID:178 vascular disease ISO RGD:1348112 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19910445 8794491 Adm2 adrenomedullin 2 gene DOID:630 genetic disease ISO RGD:1348112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794491 Adm2 adrenomedullin 2 gene DOID:864 phlebitis ISO RGD:1348112 D RGD:9068941 20230803 CTD CTD Direct Evidence: therapeutic PMID:34434487 8794491 Adm2 adrenomedullin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1348112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16987513 8794498 Brinp1 BMP/retinoic acid inducible neural specific 1 gene DOID:0060041 autism spectrum disorder ISO RGD:734244 D RGD:9068941 20220825 MouseDO 8794498 Brinp1 BMP/retinoic acid inducible neural specific 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:734244 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 8794498 Brinp1 BMP/retinoic acid inducible neural specific 1 gene DOID:630 genetic disease ISO RGD:1352710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794526 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0080572 congenital disorder of glycosylation Iw ISO RGD:1342989 D RGD:7240710 20180130 OMIM 8794526 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0080572 congenital disorder of glycosylation Iw ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant PMID:23842455|PMID:25741868|PMID:28424003|PMID:28492532|PMID:34653363 8794526 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0080600 COVID-19 ISO RGD:1342989 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8794526 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0110877 holoprosencephaly 11 ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8794526 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:0111723 Jacobsen Syndrome ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8794526 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:10907 microcephaly ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8794526 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:5419 schizophrenia ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8794526 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:630 genetic disease ISO RGD:1342989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8794526 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8794526 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A gene DOID:9007661 Dwarfism ISO RGD:1342989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8794548 Itgb3bp integrin subunit beta 3 binding protein gene DOID:1059 intellectual disability ISO RGD:1320718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8794548 Itgb3bp integrin subunit beta 3 binding protein gene DOID:289 endometriosis ISO RGD:1320718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8794548 Itgb3bp integrin subunit beta 3 binding protein gene DOID:630 genetic disease ISO RGD:1320718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794548 Itgb3bp integrin subunit beta 3 binding protein gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1320718 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 8794561 Napb NSF attachment protein beta gene DOID:0070393 developmental and epileptic encephalopathy 107 ISO RGD:1317299 D RGD:7240710 20220921 OMIM 8794561 Napb NSF attachment protein beta gene DOID:0070393 developmental and epileptic encephalopathy 107 ISO RGD:1317299 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy-107 PMID:25741868|PMID:26235277|PMID:28097321|PMID:33189936 8794561 Napb NSF attachment protein beta gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1317299 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:33189936 8794561 Napb NSF attachment protein beta gene DOID:10283 prostate cancer ISO RGD:1317299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8794561 Napb NSF attachment protein beta gene DOID:10652 Alzheimer's disease ISO RGD:1317299 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex PMID:11244216|REF_RGD_ID:10412652 8794561 Napb NSF attachment protein beta gene DOID:14250 Down syndrome ISO RGD:1317299 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex PMID:11244216|REF_RGD_ID:10412652 8794561 Napb NSF attachment protein beta gene DOID:630 genetic disease ISO RGD:1317299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794582 Atp8b4 ATPase phospholipid transporting 8B4 (putative) gene DOID:2717 Bloom syndrome ISO RGD:1315485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8794582 Atp8b4 ATPase phospholipid transporting 8B4 (putative) gene DOID:630 genetic disease ISO RGD:1315485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794582 Atp8b4 ATPase phospholipid transporting 8B4 (putative) gene DOID:9256 colorectal cancer ISO RGD:1315485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8794618 Gimd1 GIMAP family P-loop NTPase domain containing 1 gene DOID:630 genetic disease ISO RGD:6770684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794623 Shisa3 shisa family member 3 gene DOID:630 genetic disease ISO RGD:2292184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794623 Shisa3 shisa family member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2292184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8794629 Spag4 sperm associated antigen 4 gene DOID:630 genetic disease ISO RGD:734255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0070168 spermatogenic failure 3 ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25480036|PMID:25741868|PMID:31042289 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080496 ovarian dysgenesis 4 ISO RGD:1313696 D RGD:7240710 20180130 OMIM 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080496 ovarian dysgenesis 4 ISO RGD:1313696 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4 PMID:25480036|PMID:25741868|PMID:26771056|PMID:28492532|PMID:31042289 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1313696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:0080857 primary ovarian insufficiency 1 ISO RGD:1313696 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 1 PMID:25480036|PMID:25741868|PMID:31042289 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:1059 intellectual disability ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:10907 microcephaly ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:12849 autistic disorder ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:1826 epilepsy ISO RGD:1313696 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:5426 primary ovarian insufficiency ISO RGD:1313696 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fragile x premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25480036|PMID:25741868|PMID:28492532|PMID:31042289 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:630 genetic disease ISO RGD:1313696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:684 hepatocellular carcinoma ISO RGD:1313697 D RGD:9068941 20220825 MouseDO OMIM:114550 8794662 Mcm9 minichromosome maintenance 9 homologous recombination repair factor gene DOID:9000495 Tremor ISO RGD:1313696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8794679 Aatk apoptosis associated tyrosine kinase gene DOID:630 genetic disease ISO RGD:1317702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794718 Wdr1 WD repeat domain 1 gene DOID:0060224 atrial fibrillation ISO RGD:1314033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8794718 Wdr1 WD repeat domain 1 gene DOID:11476 osteoporosis ISO RGD:1314033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8794718 Wdr1 WD repeat domain 1 gene DOID:1588 thrombocytopenia ISO RGD:1314033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17515402 8794718 Wdr1 WD repeat domain 1 gene DOID:630 genetic disease ISO RGD:1314033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8794718 Wdr1 WD repeat domain 1 gene DOID:9005372 Inflammation ISO RGD:1314033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17515402 8794718 Wdr1 WD repeat domain 1 gene DOID:9005864 Autosomal Dominant Intellectual Developmental Disorder 61 ISO RGD:1314033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 61 PMID:29740699 8794718 Wdr1 WD repeat domain 1 gene DOID:9005933 Lazy Leukocyte Syndrome ISO RGD:1314033 D RGD:7240710 20200812 OMIM 8794718 Wdr1 WD repeat domain 1 gene DOID:9005933 Lazy Leukocyte Syndrome ISO RGD:1314033 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lazy leukocyte syndrome | ClinVar Annotator: match by term: WDR1 deficiency | ClinVar Annotator: match by term: WDR1-related condition PMID:205284|PMID:25741868|PMID:27557945|PMID:27994071|PMID:28492532|PMID:29751004 8794739 Parp8 poly(ADP-ribose) polymerase family member 8 gene DOID:630 genetic disease ISO RGD:1350347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794739 Parp8 poly(ADP-ribose) polymerase family member 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8794771 Polr2k RNA polymerase II, I and III subunit K gene DOID:0050144 Kartagener syndrome ISO RGD:1352672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:24055112 8794771 Polr2k RNA polymerase II, I and III subunit K gene DOID:0110607 primary ciliary dyskinesia 28 ISO RGD:1352672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 PMID:24055112 8794771 Polr2k RNA polymerase II, I and III subunit K gene DOID:0111590 Cohen syndrome ISO RGD:1352672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8794771 Polr2k RNA polymerase II, I and III subunit K gene DOID:630 genetic disease ISO RGD:1352672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0050712 AGAT deficiency ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0050952 spastic ataxia ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060041 autism spectrum disorder ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060197 juvenile amyotrophic lateral sclerosis 5 ISO RGD:1347040 D RGD:7240710 20180130 OMIM 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060197 juvenile amyotrophic lateral sclerosis 5 ISO RGD:1347040 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18717728|PMID:18835492|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:20110243|PMID:20301389|PMID:20571989|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23221952|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26556829|PMID:26742954|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27790088|PMID:27900367|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29525178|PMID:29691679|PMID:29946510|PMID:29980238|PMID:30363882|PMID:30373780|PMID:31289639|PMID:31589614|PMID:31692161|PMID:32005694|PMID:32166880|PMID:32397312|PMID:32483926|PMID:32579787|PMID:32671691|PMID:32989326|PMID:33414559|PMID:33589474|PMID:33624863|PMID:34153142|PMID:35752680|PMID:36028943|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0060898 Parkinson's disease 20 ISO RGD:1347040 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:19105190|PMID:20110243|PMID:22154821|PMID:23733235|PMID:25741868|PMID:26556829|PMID:28492532 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X ISO RGD:1347040 D RGD:7240710 20180130 OMIM 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X ISO RGD:1347040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18663179|PMID:18835492|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19513778|PMID:20110243|PMID:20301389|PMID:20390432|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26556829|PMID:26742954|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27900367|PMID:27957547|PMID:28119845|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:29246610|PMID:29525178|PMID:29691679|PMID:29980238|PMID:30363882|PMID:30373780|PMID:31289639|PMID:31692161|PMID:32005694|PMID:32166880|PMID:32397312|PMID:32483926|PMID:32989326|PMID:33414559|PMID:33589474|PMID:34153142|PMID:35752680|PMID:36028943|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:7240710 20180130 OMIM 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23443022|PMID:23733235|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31692161|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32860008|PMID:32989326|PMID:34906502|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26742954|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31227335|PMID:31289639|PMID:31407473|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32638105|PMID:32860008|PMID:32989326|PMID:33084218|PMID:33144682|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:34906502|PMID:35047667|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:36139378|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32397312|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:35254204|PMID:36028943|PMID:36139378|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28991695|PMID:29246610|PMID:29389947|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30609409|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32397312|PMID:32409511|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:32860008|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:34153142|PMID:34906502|PMID:35047667|PMID:35254204|PMID:35326432|PMID:36028943|PMID:36139378|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1347040 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum PMID:16199547|PMID:16773502|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19466474|PMID:19513778|PMID:19763152|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20307669|PMID:20390432|PMID:20571989|PMID:20971220|PMID:21035867|PMID:21381113|PMID:21625935|PMID:21896784|PMID:22154821|PMID:22175763|PMID:2223744|PMID:22237444|PMID:22246010|PMID:22406018|PMID:22696581|PMID:22700954|PMID:23043354|PMID:23121729|PMID:23221952|PMID:23438842|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24482476|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25326635|PMID:25525159|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26064709|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26539891|PMID:26556829|PMID:26601740|PMID:26633542|PMID:26671123|PMID:26742954|PMID:26755014|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27077743|PMID:27084228|PMID:27180005|PMID:27217339|PMID:27256065|PMID:27318863|PMID:27457812|PMID:27544499|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:2795747|PMID:27957547|PMID:28119845|PMID:28130640|PMID:28160950|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28933964|PMID:28991695|PMID:29246610|PMID:29342275|PMID:29389947|PMID:29482223|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29946510|PMID:29949766|PMID:29970488|PMID:29980238|PMID:30212743|PMID:30363882|PMID:30373780|PMID:30564185|PMID:30778698|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31589614|PMID:31692161|PMID:31900114|PMID:32005694|PMID:32007496|PMID:32007754|PMID:32166880|PMID:32214227|PMID:32383541|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32579787|PMID:32638105|PMID:32671691|PMID:32729724|PMID:3283541|PMID:32860008|PMID:32961396|PMID:32987860|PMID:32989326|PMID:33059505|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:33638609|PMID:33669240|PMID:34153142|PMID:34284285|PMID:34782662|PMID:34906502|PMID:35047667|PMID:35254204|PMID:35326432|PMID:35752680|PMID:35896380|PMID:36028943|PMID:36139378|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:1059 intellectual disability ISO RGD:1347040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17322883|PMID:17576681|PMID:18067136|PMID:25174650|PMID:25741868|PMID:26467025|PMID:27066562|PMID:27217339|PMID:28492532|PMID:32483926|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24833714|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:31289639|PMID:31407473|PMID:32166880|PMID:32409511|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:20301389|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24833714|PMID:25174650|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27066562|PMID:27071356|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30609409|PMID:31289639|PMID:31407473|PMID:32166880|PMID:32409511|PMID:32579787|PMID:32671691|PMID:33589474|PMID:33624863|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18408091|PMID:18414213|PMID:18439221|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19196735|PMID:19438933|PMID:19466474|PMID:20110243|PMID:20301389|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23121729|PMID:23221952|PMID:23443022|PMID:23733235|PMID:24033266|PMID:24090761|PMID:24451228|PMID:24731568|PMID:24833714|PMID:25059394|PMID:25174650|PMID:25299611|PMID:25525159|PMID:25588603|PMID:25741868|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:26755014|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27457812|PMID:27790088|PMID:27884173|PMID:27900367|PMID:27904835|PMID:27957547|PMID:28130640|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29980238|PMID:30081747|PMID:30212743|PMID:30778698|PMID:31289639|PMID:31407473|PMID:32005694|PMID:32166880|PMID:32397312|PMID:32409511|PMID:32579787|PMID:32671691|PMID:33059505|PMID:33098801|PMID:33589474|PMID:33624863|PMID:35066644|PMID:35254204|PMID:35326432|PMID:35464835|PMID:36028943|PMID:36139378|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:2717 Bloom syndrome ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:18337587|PMID:19466474|PMID:22696581|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26374131|PMID:26467025|PMID:27790088|PMID:27884173|PMID:27904835|PMID:28130640|PMID:28492532|PMID:31407473|PMID:33098801|PMID:33414559|PMID:35254204|PMID:36139378 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:607 paraplegia ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:19105190|PMID:20110243|PMID:20301389|PMID:21381113|PMID:22154821|PMID:23043354|PMID:23733235|PMID:25741868|PMID:26556829|PMID:28492532 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:630 genetic disease ISO RGD:1347040 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19917823|PMID:20110243|PMID:20301389|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24090761|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25588603|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27318863|PMID:27457812|PMID:28160950|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30564185|PMID:31227335|PMID:31289639|PMID:31900114|PMID:32166880|PMID:32214227|PMID:32409511|PMID:33414559|PMID:33430805|PMID:33589474|PMID:33624863|PMID:35047667|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:630 genetic disease ISO RGD:1347040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17322883|PMID:17576681|PMID:17717710|PMID:18067136|PMID:18079167|PMID:18332254|PMID:18337587|PMID:18361476|PMID:18414213|PMID:18586399|PMID:18663179|PMID:18717728|PMID:18835492|PMID:19087158|PMID:19105190|PMID:19194956|PMID:19196735|PMID:19438933|PMID:19917823|PMID:20110243|PMID:20301389|PMID:20571989|PMID:21381113|PMID:21625935|PMID:22154821|PMID:22175763|PMID:22237444|PMID:22246010|PMID:22696581|PMID:23043354|PMID:23443022|PMID:23733235|PMID:23812641|PMID:23881933|PMID:24090761|PMID:24482476|PMID:24833714|PMID:25174650|PMID:25299611|PMID:25588603|PMID:25741868|PMID:25769290|PMID:26046366|PMID:26183056|PMID:26374131|PMID:26467025|PMID:26556829|PMID:26601740|PMID:27016404|PMID:27066562|PMID:27071356|PMID:27180005|PMID:27217339|PMID:27318863|PMID:27457812|PMID:27790088|PMID:27900367|PMID:28160950|PMID:28492532|PMID:28832565|PMID:29525178|PMID:29691679|PMID:29732542|PMID:29908077|PMID:29949766|PMID:29980238|PMID:30564185|PMID:31289639|PMID:31407473|PMID:31475037|PMID:31900114|PMID:32005694|PMID:32166880|PMID:32214227|PMID:32397312|PMID:32409511|PMID:32483926|PMID:32729724|PMID:32987860|PMID:33098801|PMID:33414559|PMID:33589474|PMID:33624863|PMID:33669240|PMID:35047667|PMID:35254204|PMID:35896380|PMID:36028943|PMID:36139378|PMID:9536098 8794785 Spg11 SPG11 vesicle trafficking associated, spatacsin gene DOID:9256 colorectal cancer ISO RGD:1347040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8794840 Zc3h13 zinc finger CCCH-type containing 13 gene DOID:630 genetic disease ISO RGD:1317090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794840 Zc3h13 zinc finger CCCH-type containing 13 gene DOID:9002189 High Myopia ISO RGD:1317090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8794918 Vps45 vacuolar protein sorting 45 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8794918 Vps45 vacuolar protein sorting 45 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732754 D RGD:7240710 20180130 OMIM 8794918 Vps45 vacuolar protein sorting 45 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:17576681|PMID:23599270|PMID:23738510|PMID:25640679|PMID:25741868|PMID:26358756|PMID:28492532|PMID:30294941|PMID:32037586|PMID:9536098 8794918 Vps45 vacuolar protein sorting 45 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8794918 Vps45 vacuolar protein sorting 45 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8794918 Vps45 vacuolar protein sorting 45 homolog gene DOID:5812 MHC class II deficiency ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8794918 Vps45 vacuolar protein sorting 45 homolog gene DOID:630 genetic disease ISO RGD:732754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8794918 Vps45 vacuolar protein sorting 45 homolog gene DOID:9006561 Familial Myelofibrosis ISO RGD:732754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23599270 8794918 Vps45 vacuolar protein sorting 45 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8794937 Slc35c2 solute carrier family 35 member C2 gene DOID:2234 focal epilepsy ISO RGD:1322607 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8794937 Slc35c2 solute carrier family 35 member C2 gene DOID:630 genetic disease ISO RGD:1322607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794965 Traf4 TNF receptor associated factor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1315478 D RGD:9068941 20220310 RGD mRNA:increased expression:lung (human) PMID:29254206|REF_RGD_ID:151665107 8794965 Traf4 TNF receptor associated factor 4 gene DOID:630 genetic disease ISO RGD:1315478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8794965 Traf4 TNF receptor associated factor 4 gene DOID:9000998 Brain Injuries ISO RGD:1315478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8794980 Gjc2 gap junction protein gamma 2 gene DOID:0050952 spastic ataxia ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:22833003|PMID:25059390|PMID:25741868|PMID:28492532|PMID:33190326|PMID:34445196 8794980 Gjc2 gap junction protein gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:7240710 20180130 OMIM 8794980 Gjc2 gap junction protein gamma 2 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1346209 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 PMID:15192806|PMID:16969684|PMID:17031678|PMID:17344063|PMID:18094336|PMID:20695017|PMID:21246605|PMID:21959080|PMID:22351697|PMID:22669416|PMID:22833003|PMID:23142375|PMID:24374284|PMID:25059390|PMID:25326635|PMID:25741868|PMID:26354221|PMID:27057822|PMID:27780564|PMID:28492532|PMID:29276893|PMID:29389947|PMID:29906362|PMID:31028937|PMID:31912665|PMID:32488064|PMID:32581362|PMID:33190326|PMID:34055681|PMID:34445196|PMID:35807022|PMID:8733901 8794980 Gjc2 gap junction protein gamma 2 gene DOID:0070208 hereditary lymphedema IC ISO RGD:1346209 D RGD:7240710 20180130 OMIM 8794980 Gjc2 gap junction protein gamma 2 gene DOID:0070208 hereditary lymphedema IC ISO RGD:1346209 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Lymphedema, hereditary, IC PMID:20537300|PMID:21266381|PMID:25741868|PMID:28492532 8794980 Gjc2 gap junction protein gamma 2 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 8794980 Gjc2 gap junction protein gamma 2 gene DOID:0110796 hereditary spastic paraplegia 44 ISO RGD:1346209 D RGD:7240710 20180130 OMIM 8794980 Gjc2 gap junction protein gamma 2 gene DOID:0110796 hereditary spastic paraplegia 44 ISO RGD:1346209 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 44 PMID:19056803|PMID:25741868|PMID:27057822|PMID:28492532|PMID:34055681 8794980 Gjc2 gap junction protein gamma 2 gene DOID:1059 intellectual disability ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32581362 8794980 Gjc2 gap junction protein gamma 2 gene DOID:14330 Parkinson's disease treatment ISO RGD:1562712 D RGD:9068941 20200609 RGD PMID:21561882|REF_RGD_ID:13208520 8794980 Gjc2 gap junction protein gamma 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8794980 Gjc2 gap junction protein gamma 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1346209 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18094336|PMID:20442743|PMID:21959080|PMID:22351697|PMID:22833003|PMID:23544880|PMID:25741868|PMID:26467025|PMID:27860360|PMID:28492532|PMID:29906362|PMID:35807022 8794980 Gjc2 gap junction protein gamma 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1346209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:15192806|PMID:23143715|PMID:25741868|PMID:28492532|PMID:31319225 8794980 Gjc2 gap junction protein gamma 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1623025 D RGD:9068941 20200609 RGD protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse) PMID:24597481|REF_RGD_ID:13208591 8794980 Gjc2 gap junction protein gamma 2 gene DOID:4977 lymphedema ISO RGD:1346209 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:20537300|REF_RGD_ID:13208590 8794980 Gjc2 gap junction protein gamma 2 gene DOID:4977 lymphedema ISO RGD:1346209 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.S48L, p.M210R (human) PMID:21266381|REF_RGD_ID:13208589 8794980 Gjc2 gap junction protein gamma 2 gene DOID:543 dystonia ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:32581362 8794980 Gjc2 gap junction protein gamma 2 gene DOID:607 paraplegia ISO RGD:1346209 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15192806|PMID:17576681|PMID:18094336|PMID:20442743|PMID:20513814|PMID:20695017|PMID:21246605|PMID:21959080|PMID:22351697|PMID:22833003|PMID:23142375|PMID:23143715|PMID:23544880|PMID:24374284|PMID:25059390|PMID:25741868|PMID:26467025|PMID:27057822|PMID:27780564|PMID:27860360|PMID:28492532|PMID:29276893|PMID:29451896|PMID:29906362|PMID:31028937|PMID:31270756|PMID:31319225|PMID:31912665|PMID:33190326|PMID:34055681|PMID:34445196|PMID:35807022|PMID:8733901|PMID:9536098 8794980 Gjc2 gap junction protein gamma 2 gene DOID:630 genetic disease ISO RGD:1346209 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22351697|PMID:22833003|PMID:25741868|PMID:27860360|PMID:28492532|PMID:29906362|PMID:35807022 8794980 Gjc2 gap junction protein gamma 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1562712 D RGD:9068941 20200609 RGD PMID:26415641|REF_RGD_ID:13208513 8794980 Gjc2 gap junction protein gamma 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1623025 D RGD:9068941 20200609 RGD protein:decreased expression:white matter of spinal cord, gap junction (mouse) PMID:22461072|REF_RGD_ID:13208593 8794980 Gjc2 gap junction protein gamma 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1346209 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18094336|PMID:25741868 8794980 Gjc2 gap junction protein gamma 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8794988 Proser3 proline and serine rich 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8794988 Proser3 proline and serine rich 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8794988 Proser3 proline and serine rich 3 gene DOID:543 dystonia ISO RGD:1603570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8794988 Proser3 proline and serine rich 3 gene DOID:630 genetic disease ISO RGD:1603570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795030 Pou4f1 POU class 4 homeobox 1 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1346307 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8795030 Pou4f1 POU class 4 homeobox 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1346307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8795030 Pou4f1 POU class 4 homeobox 1 gene DOID:630 genetic disease ISO RGD:1346307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795030 Pou4f1 POU class 4 homeobox 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1346307 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:20190800 8795030 Pou4f1 POU class 4 homeobox 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1346307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21928122 8795030 Pou4f1 POU class 4 homeobox 1 gene DOID:9006671 ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET ISO RGD:1346307 D RGD:7240710 20210811 OMIM 8795030 Pou4f1 POU class 4 homeobox 1 gene DOID:9006671 ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET ISO RGD:1346307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset PMID:29758562|PMID:33783914 8795030 Pou4f1 POU class 4 homeobox 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1346307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 8795038 Usp34 ubiquitin specific peptidase 34 gene DOID:0060224 atrial fibrillation ISO RGD:1318847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8795038 Usp34 ubiquitin specific peptidase 34 gene DOID:0060415 chromosome 2p16.1-p15 deletion syndrome ISO RGD:1318847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 2p16.1-p15 deletion syndrome 8795038 Usp34 ubiquitin specific peptidase 34 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1318847 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 8795038 Usp34 ubiquitin specific peptidase 34 gene DOID:5419 schizophrenia ISO RGD:1318847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8795038 Usp34 ubiquitin specific peptidase 34 gene DOID:630 genetic disease ISO RGD:1318847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795119 Zc3hc1 zinc finger C3HC-type containing 1 gene DOID:3393 coronary artery disease ISO RGD:1347342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 8795119 Zc3hc1 zinc finger C3HC-type containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8795119 Zc3hc1 zinc finger C3HC-type containing 1 gene DOID:630 genetic disease ISO RGD:1347342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795119 Zc3hc1 zinc finger C3HC-type containing 1 gene DOID:9000528 Coronary Disease ISO RGD:1347342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8795119 Zc3hc1 zinc finger C3HC-type containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8795140 Usp14 ubiquitin specific peptidase 14 gene DOID:0050646 distal arthrogryposis ISO RGD:1323483 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis and CNS involvement PMID:25741868|PMID:35066879 8795140 Usp14 ubiquitin specific peptidase 14 gene DOID:12849 autistic disorder ISO RGD:1323483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8795140 Usp14 ubiquitin specific peptidase 14 gene DOID:630 genetic disease ISO RGD:1323483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795140 Usp14 ubiquitin specific peptidase 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8795159 Epc2 enhancer of polycomb homolog 2 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1316366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:19904302|PMID:21981781|PMID:23632792 8795159 Epc2 enhancer of polycomb homolog 2 gene DOID:630 genetic disease ISO RGD:1316366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795159 Epc2 enhancer of polycomb homolog 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 8795181 Znf668 zinc finger protein 668 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1605939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8795181 Znf668 zinc finger protein 668 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1605939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:25362483|PMID:26818399|PMID:28492532 8795181 Znf668 zinc finger protein 668 gene DOID:10907 microcephaly ISO RGD:1605939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:26633546|PMID:34313816 8795181 Znf668 zinc finger protein 668 gene DOID:2661 myoepithelioma ISO RGD:1605939 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8795181 Znf668 zinc finger protein 668 gene DOID:630 genetic disease ISO RGD:1605939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795181 Znf668 zinc finger protein 668 gene DOID:9001276 Failure to Thrive ISO RGD:1605939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:26633546|PMID:34313816 8795181 Znf668 zinc finger protein 668 gene DOID:9005566 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES ISO RGD:1605939 D RGD:7240710 20230505 OMIM 8795181 Znf668 zinc finger protein 668 gene DOID:9005566 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES ISO RGD:1605939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies PMID:26633546|PMID:34313816 8795181 Znf668 zinc finger protein 668 gene DOID:9005834 Ependymomas ISO RGD:1605939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 8795196 Tmem150a transmembrane protein 150A gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1605297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8795196 Tmem150a transmembrane protein 150A gene DOID:630 genetic disease ISO RGD:1605297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1323680 D RGD:9068941 20220825 MouseDO OMIM:208050 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1323679 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:15776121|PMID:20389311|PMID:21563328|PMID:25741868|PMID:28492532 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:1323679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A PMID:15776121|PMID:20389311|PMID:21563328|PMID:28492532 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:1059 intellectual disability ISO RGD:1323679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323679 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:14323 Marfan syndrome ISO RGD:1323680 D RGD:9068941 20220825 MouseDO OMIM:154700 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:2746 glycogen storage disease V ISO RGD:1323679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:630 genetic disease ISO RGD:1323679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1323679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323679 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8795211 Mus81 MUS81 structure-specific endonuclease subunit gene DOID:9675 pulmonary emphysema ISO RGD:1323680 D RGD:9068941 20220825 MouseDO OMIM:130700 8795245 Cimip1 ciliary microtubule inner protein 1 gene DOID:630 genetic disease ISO RGD:1342910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795267 Galnt10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348778 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8795267 Galnt10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:630 genetic disease ISO RGD:1348778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795267 Galnt10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8795267 Galnt10 polypeptide N-acetylgalactosaminyltransferase 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348778 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:0050634 alopecia universalis ISO RGD:1344984 D RGD:7240710 20180130 OMIM 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:0050634 alopecia universalis ISO RGD:1344984 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: ATRICHIA, GENERALIZED | ClinVar Annotator: match by term: Alopecia universalis | ClinVar Annotator: match by term: Alopecia universalis congenita PMID:11410842|PMID:11641275|PMID:11966690|PMID:12406339|PMID:17609203|PMID:20087431|PMID:20512917|PMID:21747609|PMID:21919222|PMID:22584530|PMID:23548463|PMID:24033266|PMID:25741868|PMID:26680117|PMID:28492532|PMID:8790387|PMID:9445480|PMID:9736769|PMID:9758627 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:0060689 atrichia with papular lesions ISO RGD:1344984 D RGD:7240710 20180130 OMIM 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:0060689 atrichia with papular lesions ISO RGD:1344984 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia PMID:10205263|PMID:10469319|PMID:11410842|PMID:11966690|PMID:12271294|PMID:17609203|PMID:17869066|PMID:18164595|PMID:20087431|PMID:20512917|PMID:21747609|PMID:21919222|PMID:22584530|PMID:23548463|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8790387|PMID:9445480|PMID:9736769|PMID:9758627|PMID:9856480|PMID:9880231|PMID:9892925 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:0070044 Coffin-Siris syndrome 2 ISO RGD:1344984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 PMID:21919222|PMID:23548463|PMID:25741868|PMID:28492532 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:0110701 hypotrichosis 4 ISO RGD:1344984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 4 PMID:10777357|PMID:10854110|PMID:11069461|PMID:17680008|PMID:19122663|PMID:19897589|PMID:20659777|PMID:20814945 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:620634 D RGD:9068941 20211022 RGD PMID:21325752|REF_RGD_ID:150520024 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:576 proteinuria ISO RGD:620634 D RGD:9068941 20211022 RGD PMID:21325752|REF_RGD_ID:150520024 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:630 genetic disease ISO RGD:1344984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:9001946 Skin Abnormalities ISO RGD:1344984 D RGD:9068941 20200609 RGD atrichia with papular lesions, OMIM:209500 DNA:deletion:exon:2147delC PMID:9856480|REF_RGD_ID:1599576 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1344984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:987 alopecia ISO RGD:1344984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16455232 8795283 Hr HR lysine demethylase and nuclear receptor corepressor gene DOID:987 alopecia ISO RGD:1344984 D RGD:9068941 20200609 RGD alopecia universalis congenita, OMIM:203655 DNA:point_mutation:CDS:T3407A -> amino acid V1136D PMID:9736769|REF_RGD_ID:1599575 8795307 Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8795307 Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:10283 prostate cancer ISO RGD:1347923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8795307 Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8795307 Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:630 genetic disease ISO RGD:1347923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795307 Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8795307 Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347923 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24033266|PMID:25741868|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:33811063 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1323296 D RGD:7240710 20190315 OMIM 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:0080424 developmental and epileptic encephalopathy 44 ISO RGD:1323296 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 | ClinVar Annotator: match by term: UBA5-related condition PMID:24033266|PMID:25741868|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:29663568|PMID:32371413|PMID:33811063|PMID:33853163 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:0111615 autosomal recessive spinocerebellar ataxia 24 ISO RGD:1323296 D RGD:7240710 20190315 OMIM 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:0111615 autosomal recessive spinocerebellar ataxia 24 ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24 PMID:24033266|PMID:25741868|PMID:26872069|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:33811063 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24033266|PMID:25741868|PMID:27545674|PMID:27545681|PMID:27926783|PMID:28492532|PMID:28965491|PMID:29286531|PMID:33811063 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:12712 nephronophthisis ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:13580 cholestasis ISO RGD:1323296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:630 genetic disease ISO RGD:1323296 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27653677|PMID:28492532|PMID:30287594|PMID:33853163 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1323296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8795352 Uba5 ubiquitin like modifier activating enzyme 5 gene DOID:9270 alkaptonuria ISO RGD:1323296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8795371 Slc39a4 solute carrier family 39 member 4 gene DOID:0050605 acrodermatitis enteropathica ISO RGD:1315470 D RGD:7240710 20180130 OMIM 8795371 Slc39a4 solute carrier family 39 member 4 gene DOID:0050605 acrodermatitis enteropathica ISO RGD:1315470 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica | ClinVar Annotator: match by term: SLC39A4-related condition PMID:11035780|PMID:11254458|PMID:12032886|PMID:12068297|PMID:12787121|PMID:12955721|PMID:14709598|PMID:16199547|PMID:19370757|PMID:20981092|PMID:21165302|PMID:21762381|PMID:24033266|PMID:25741868|PMID:26351177|PMID:28492532|PMID:31979155|PMID:33837739|PMID:34625996 8795371 Slc39a4 solute carrier family 39 member 4 gene DOID:0060496 respiratory allergy ISO RGD:1315470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 8795371 Slc39a4 solute carrier family 39 member 4 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8795371 Slc39a4 solute carrier family 39 member 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8795371 Slc39a4 solute carrier family 39 member 4 gene DOID:2722 acrodermatitis ISO RGD:1315470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16714095|PMID:16819703|PMID:16889938|PMID:17190629|PMID:17202136 8795371 Slc39a4 solute carrier family 39 member 4 gene DOID:4621 holoprosencephaly ISO RGD:1315470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8795371 Slc39a4 solute carrier family 39 member 4 gene DOID:630 genetic disease ISO RGD:1315470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12032886|PMID:12955721|PMID:16199547|PMID:21762381|PMID:25741868|PMID:28492532 8795371 Slc39a4 solute carrier family 39 member 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957146 8795371 Slc39a4 solute carrier family 39 member 4 gene DOID:9007023 Prenatal Injuries ISO RGD:1315470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17483098 8795403 Znf181 zinc finger protein 181 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1350016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8795403 Znf181 zinc finger protein 181 gene DOID:630 genetic disease ISO RGD:1350016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795416 Dchs2 dachsous cadherin-related 2 gene DOID:10283 prostate cancer ISO RGD:1603301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8795416 Dchs2 dachsous cadherin-related 2 gene DOID:630 genetic disease ISO RGD:1603301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795416 Dchs2 dachsous cadherin-related 2 gene DOID:9007653 Multiple Abnormalities ISO RGD:1603301 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:25741868 8795468 Ipo13 importin 13 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 8795468 Ipo13 importin 13 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8795468 Ipo13 importin 13 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 8795468 Ipo13 importin 13 gene DOID:630 genetic disease ISO RGD:731320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795510 Arf3 ADP ribosylation factor 3 gene DOID:1059 intellectual disability ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8795510 Arf3 ADP ribosylation factor 3 gene DOID:12849 autistic disorder ISO RGD:1354397 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8795510 Arf3 ADP ribosylation factor 3 gene DOID:1682 congenital heart disease ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 8795510 Arf3 ADP ribosylation factor 3 gene DOID:1826 epilepsy ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8795510 Arf3 ADP ribosylation factor 3 gene DOID:543 dystonia ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868 8795510 Arf3 ADP ribosylation factor 3 gene DOID:630 genetic disease ISO RGD:1354397 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795510 Arf3 ADP ribosylation factor 3 gene DOID:9001510 Funnel Chest ISO RGD:1354397 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 8795529 Paqr7 progestin and adipoQ receptor family member 7 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8795529 Paqr7 progestin and adipoQ receptor family member 7 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1606437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8795529 Paqr7 progestin and adipoQ receptor family member 7 gene DOID:630 genetic disease ISO RGD:1606437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795536 LOC102011029 chromosome unknown open reading frame, human C10orf67 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1350054 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 8795536 LOC102011029 chromosome unknown open reading frame, human C10orf67 gene DOID:630 genetic disease ISO RGD:1350054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795536 LOC102011029 chromosome unknown open reading frame, human C10orf67 gene DOID:9007770 Pancreatic Agenesis 2 ISO RGD:1350054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pancreatic agenesis 2 PMID:25741868 8795536 LOC102011029 chromosome unknown open reading frame, human C10orf67 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 8795560 Calb1 calbindin 1 gene DOID:10591 pre-eclampsia ISO RGD:732083 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8795560 Calb1 calbindin 1 gene DOID:11714 gestational diabetes ISO RGD:732083 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8795560 Calb1 calbindin 1 gene DOID:1574 alcohol use disorder ISO RGD:69340 D RGD:9068941 20231221 RGD mRNA:decreased expression:hippocampus (rat) PMID:30277635|REF_RGD_ID:401938665 8795560 Calb1 calbindin 1 gene DOID:2741 bilirubin metabolic disorder ISO RGD:69340 D RGD:9068941 20200609 RGD PMID:12204357|REF_RGD_ID:633843 8795560 Calb1 calbindin 1 gene DOID:557 kidney disease ISO RGD:732083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258088|PMID:21865292 8795560 Calb1 calbindin 1 gene DOID:630 genetic disease ISO RGD:732083 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795560 Calb1 calbindin 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:69340 D RGD:9068941 20231230 RGD PMID:22428005|REF_RGD_ID:401940127 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:12712 nephronophthisis ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1605039 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:1826 epilepsy ISO RGD:1605039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:303 substance-related disorder ISO RGD:1605039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:630 genetic disease ISO RGD:1605039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795575 Csrnp3 cysteine and serine rich nuclear protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1605039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8795588 Dctd dCMP deaminase gene DOID:630 genetic disease ISO RGD:1349899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795598 Pdk1 pyruvate dehydrogenase kinase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:69480 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8795598 Pdk1 pyruvate dehydrogenase kinase 1 gene DOID:630 genetic disease ISO RGD:69480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795640 Spem2 SPEM family member 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8795640 Spem2 SPEM family member 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8795640 Spem2 SPEM family member 2 gene DOID:1059 intellectual disability ISO RGD:1604207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8795640 Spem2 SPEM family member 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1604207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8795640 Spem2 SPEM family member 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1604207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8795640 Spem2 SPEM family member 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8795640 Spem2 SPEM family member 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1604207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8795656 Guk1 guanylate kinase 1 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1320084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 8795656 Guk1 guanylate kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1320084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8795656 Guk1 guanylate kinase 1 gene DOID:630 genetic disease ISO RGD:1320084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795656 Guk1 guanylate kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309638 D RGD:9068941 20200609 RGD protein:decreased expression:retina (rat) PMID:17465459|REF_RGD_ID:5147874 8795656 Guk1 guanylate kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8795674 Yrdc yrdC N6-threonylcarbamoyltransferase domain containing gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8795674 Yrdc yrdC N6-threonylcarbamoyltransferase domain containing gene DOID:630 genetic disease ISO RGD:1606217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795674 Yrdc yrdC N6-threonylcarbamoyltransferase domain containing gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606217 D RGD:7240710 20211201 OMIM 8795674 Yrdc yrdC N6-threonylcarbamoyltransferase domain containing gene DOID:9002926 Galloway-Mowat Syndrome 10 ISO RGD:1606217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 PMID:31481669|PMID:34545459 8795683 Bik BCL2 interacting killer gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1347683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8795683 Bik BCL2 interacting killer gene DOID:10283 prostate cancer ISO RGD:1347683 D RGD:9068941 20200609 RGD PMID:14633680|REF_RGD_ID:14394816 8795683 Bik BCL2 interacting killer gene DOID:1059 intellectual disability ISO RGD:1347683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8795683 Bik BCL2 interacting killer gene DOID:12704 ataxia telangiectasia susceptibility ISO RGD:1347683 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS4-12delTC(human) PMID:19898928|REF_RGD_ID:14394817 8795683 Bik BCL2 interacting killer gene DOID:1612 breast cancer ISO RGD:1347683 D RGD:9068941 20200609 RGD PMID:14633680|REF_RGD_ID:14394816 8795683 Bik BCL2 interacting killer gene DOID:219 colon cancer treatment ISO RGD:1347683 D RGD:9068941 20200609 RGD PMID:17636408|REF_RGD_ID:14394819 8795683 Bik BCL2 interacting killer gene DOID:4450 renal cell carcinoma ISO RGD:1347683 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16322756|REF_RGD_ID:14394818 8795683 Bik BCL2 interacting killer gene DOID:630 genetic disease ISO RGD:1347683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795683 Bik BCL2 interacting killer gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347683 D RGD:9068941 20200609 RGD associated with cholangiocarcinoma;DNA:CNV:: PMID:16865775|REF_RGD_ID:14394820 8795683 Bik BCL2 interacting killer gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1347683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8795692 Slmap sarcolemma associated protein gene DOID:0050451 Brugada syndrome ISO RGD:1317000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 8795692 Slmap sarcolemma associated protein gene DOID:0050451 Brugada syndrome ISO RGD:1317000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30847666|PMID:9536098 8795692 Slmap sarcolemma associated protein gene DOID:0060319 cardiac arrest ISO RGD:1317000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest 8795692 Slmap sarcolemma associated protein gene DOID:13938 amenorrhea ISO RGD:1317000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8795692 Slmap sarcolemma associated protein gene DOID:2843 long QT syndrome ISO RGD:1317000 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8795692 Slmap sarcolemma associated protein gene DOID:630 genetic disease ISO RGD:1317000 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8795692 Slmap sarcolemma associated protein gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1317000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8795745 Arsi arylsulfatase family member I gene DOID:0060041 autism spectrum disorder ISO RGD:1604953 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8795745 Arsi arylsulfatase family member I gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604953 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8795745 Arsi arylsulfatase family member I gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 8795745 Arsi arylsulfatase family member I gene DOID:607 paraplegia ISO RGD:1604953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532|PMID:28832565 8795745 Arsi arylsulfatase family member I gene DOID:630 genetic disease ISO RGD:1604953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8795745 Arsi arylsulfatase family member I gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604953 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8795766 Rbm43 RNA binding motif protein 43 gene DOID:630 genetic disease ISO RGD:1604694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795773 Hnf1b HNF1 homeobox B gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:69136 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:12148114|PMID:12161522|PMID:15068978|PMID:15930087|PMID:16249435|PMID:16371430|PMID:17116179|PMID:17878605|PMID:18249217|PMID:18644064|PMID:19389850|PMID:19639018|PMID:20155289|PMID:20378641|PMID:20603712|PMID:21380624|PMID:21775974|PMID:23539225|PMID:24387224|PMID:24897035|PMID:24961278|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26024028|PMID:26059258|PMID:26226118|PMID:26340261|PMID:26467025|PMID:27615128|PMID:28215227|PMID:28420700|PMID:28492532|PMID:31131422|PMID:31498910|PMID:31825128|PMID:32708349|PMID:33259036|PMID:33434175|PMID:33532864|PMID:33663443|PMID:33851123|PMID:9398836 8795773 Hnf1b HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:28274157|PMID:28492532|PMID:29927023|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32266039|PMID:33259036|PMID:33532864 8795773 Hnf1b HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28166811|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 8795773 Hnf1b HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28166811|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 8795773 Hnf1b HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 8795773 Hnf1b HNF1 homeobox B gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69136 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10868855|PMID:11845238|PMID:12148114|PMID:12478351|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16249435|PMID:16801329|PMID:16971658|PMID:17337496|PMID:18528323|PMID:19228875|PMID:19389850|PMID:19417042|PMID:19639018|PMID:20378641|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22432796|PMID:22706971|PMID:24033266|PMID:24097065|PMID:24254850|PMID:24429398|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26489027|PMID:26552609|PMID:26899772|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28274157|PMID:28420700|PMID:28492532|PMID:29100090|PMID:29207974|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30655312|PMID:30663027|PMID:30666461|PMID:31057226|PMID:31198537|PMID:31365591|PMID:31498910|PMID:31825128|PMID:32164334|PMID:32266039|PMID:33259036|PMID:33434175|PMID:33532864|PMID:9398836 8795773 Hnf1b HNF1 homeobox B gene DOID:0050770 polycystic liver disease ISO RGD:69136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:15930087|PMID:16249435|PMID:18065799|PMID:19639018|PMID:20633866|PMID:21775974|PMID:22114815|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24429398|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:26899772|PMID:28492532|PMID:30259503 8795773 Hnf1b HNF1 homeobox B gene DOID:0060041 autism spectrum disorder ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8795773 Hnf1b HNF1 homeobox B gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISO RGD:69136 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease PMID:12148114|PMID:12161522|PMID:15068978|PMID:17878605|PMID:20378641|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31131422|PMID:33532864|PMID:9398836 8795773 Hnf1b HNF1 homeobox B gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:69136 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 8795773 Hnf1b HNF1 homeobox B gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:69136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 8795773 Hnf1b HNF1 homeobox B gene DOID:0080205 CAKUT ISO RGD:69136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:15930087|PMID:16249435|PMID:16371430|PMID:17116179|PMID:18249217|PMID:18644064|PMID:20155289|PMID:21380624|PMID:21775974|PMID:23539225|PMID:24387224|PMID:24429398|PMID:24897035|PMID:24961278|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26024028|PMID:26059258|PMID:26226118|PMID:26467025|PMID:28492532|PMID:30143558|PMID:31825128|PMID:32708349|PMID:33532864|PMID:33663443 8795773 Hnf1b HNF1 homeobox B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69136 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12148114|PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:17116179|PMID:17878605|PMID:18249217|PMID:18528323|PMID:18644064|PMID:19639018|PMID:20378641|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22706971|PMID:24254850|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27234567|PMID:27615128|PMID:28215227|PMID:28420700|PMID:28492532|PMID:29764441|PMID:29927023|PMID:30481753|PMID:30655312|PMID:30666461|PMID:31131422|PMID:31198537|PMID:31498910|PMID:31825128|PMID:32266039|PMID:32708349|PMID:33046911|PMID:33434175|PMID:33532864|PMID:33663443|PMID:33851123|PMID:9398836 8795773 Hnf1b HNF1 homeobox B gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:69136 D RGD:7240710 20180130 OMIM 8795773 Hnf1b HNF1 homeobox B gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:69136 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:10484768|PMID:10672455|PMID:10720943|PMID:10758154|PMID:10868855|PMID:11085914|PMID:11317673|PMID:11562418|PMID:11845237|PMID:11845238|PMID:11918730|PMID:12148114|PMID:12161522|PMID:12460054|PMID:12478351|PMID:12675839|PMID:14583183|PMID:15001636|PMID:15068978|PMID:15085338|PMID:15168014|PMID:15181075|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16133182|PMID:16199547|PMID:16249435|PMID:16371430|PMID:16801329|PMID:16971658|PMID:17116179|PMID:17267738|PMID:17337496|PMID:17440011|PMID:17878605|PMID:17924661|PMID:18065799|PMID:18249217|PMID:18528323|PMID:18644064|PMID:19228875|PMID:19346182|PMID:19389850|PMID:19639018|PMID:20155289|PMID:20378641|PMID:20543213|PMID:20603712|PMID:20633866|PMID:21163139|PMID:21380624|PMID:21617276|PMID:21775974|PMID:22034641|PMID:22051731|PMID:22060211|PMID:22114815|PMID:22432796|PMID:22641569|PMID:22706971|PMID:23520208|PMID:23539225|PMID:23926411|PMID:23979948|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24254850|PMID:24382792|PMID:24387224|PMID:24429398|PMID:24476040|PMID:24698406|PMID:24897035|PMID:24961278|PMID:25041077|PMID:25265965|PMID:25367728|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25705165|PMID:25741167|PMID:25741868|PMID:25754277|PMID:26024028|PMID:26059258|PMID:26226118|PMID:2624270|PMID:26319241|PMID:26340261|PMID:26417411|PMID:26467025|PMID:26489027|PMID:26489029|PMID:26669242|PMID:26899772|PMID:27229139|PMID:27234567|PMID:27297286|PMID:27615128|PMID:27657687|PMID:27838256|PMID:27913849|PMID:28215227|PMID:28251383|PMID:28420700|PMID:28492532|PMID:28502589|PMID:28593362|PMID:28912863|PMID:29100090|PMID:29207974|PMID:29406598|PMID:29491316|PMID:2976441|PMID:29764441|PMID:29927023|PMID:30143558|PMID:30191644|PMID:30259503|PMID:30481753|PMID:30548481|PMID:30655312|PMID:30663027|PMID:30666461|PMID:30773290|PMID:30791938|PMID:31131422|PMID:31198537|PMID:31365591|PMID:31498910|PMID:31604004|PMID:31825128|PMID:32164334|PMID:32266039|PMID:32708349|PMID:33046911|PMID:33259036|PMID:33305128|PMID:33434175|PMID:33532864|PMID:33574344|PMID:33663443|PMID:33851123|PMID:35643372|PMID:36522156|PMID:36549658|PMID:7151342|PMID:9398836|PMID:9703339 8795773 Hnf1b HNF1 homeobox B gene DOID:12849 autistic disorder ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8795773 Hnf1b HNF1 homeobox B gene DOID:2394 ovarian cancer ISO RGD:69136 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:12161522|PMID:25700310|PMID:25741868 8795773 Hnf1b HNF1 homeobox B gene DOID:26 pancreas disease ISO RGD:69136 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:missense, nonsense mutations:cds:multiple (human) PMID:15068978|REF_RGD_ID:2312751 8795773 Hnf1b HNF1 homeobox B gene DOID:4450 renal cell carcinoma ISO RGD:69136 D RGD:7240710 20180130 OMIM 8795773 Hnf1b HNF1 homeobox B gene DOID:4471 chromophobe renal cell carcinoma ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromophobe renal cell carcinoma PMID:15649945|PMID:16371430|PMID:25536396|PMID:25700310|PMID:25741868 8795773 Hnf1b HNF1 homeobox B gene DOID:5419 schizophrenia ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8795773 Hnf1b HNF1 homeobox B gene DOID:557 kidney disease ISO RGD:69136 D RGD:9068941 20200609 RGD DNA:mutation, deletions::multiple PMID:16971658|REF_RGD_ID:10402549 8795773 Hnf1b HNF1 homeobox B gene DOID:557 kidney disease ISO RGD:69136 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:deletion:cds:multiple (human) PMID:17971380|REF_RGD_ID:2312749 8795773 Hnf1b HNF1 homeobox B gene DOID:630 genetic disease ISO RGD:69136 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11845237|PMID:11845238|PMID:15509593|PMID:15930087|PMID:16133182|PMID:19389850|PMID:20378641|PMID:20633866|PMID:22432796|PMID:25536396|PMID:25700310|PMID:25741868|PMID:28492532|PMID:30773290|PMID:33305128|PMID:36090499|PMID:36793123 8795773 Hnf1b HNF1 homeobox B gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:69136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:15930087|PMID:16249435|PMID:18065799|PMID:19639018|PMID:20633866|PMID:21775974|PMID:22114815|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24429398|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26467025|PMID:26899772|PMID:28492532|PMID:30259503 8795773 Hnf1b HNF1 homeobox B gene DOID:9002304 Prostatic Neoplasms ISO RGD:69136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096|PMID:18758462 8795773 Hnf1b HNF1 homeobox B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8795773 Hnf1b HNF1 homeobox B gene DOID:9004645 Familial Juvenile Hyperuricemic Nephropathy 3 ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile type 3 PMID:19639018|PMID:24897035|PMID:25536396|PMID:25741167|PMID:25741868|PMID:26340261|PMID:27615128|PMID:28215227|PMID:28492532|PMID:33434175 8795773 Hnf1b HNF1 homeobox B gene DOID:9351 diabetes mellitus ISO RGD:69136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:15930087|PMID:16249435|PMID:18065799|PMID:19639018|PMID:20633866|PMID:21775974|PMID:22114815|PMID:24033266|PMID:24041679|PMID:24097065|PMID:24429398|PMID:24897035|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:26899772|PMID:27615128|PMID:28215227|PMID:28492532|PMID:30259503|PMID:33434175 8795773 Hnf1b HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69136 D RGD:7240710 20180130 OMIM 8795773 Hnf1b HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69136 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:12148114|PMID:12161522|PMID:15068978|PMID:15509593|PMID:15649945|PMID:15660195|PMID:15930087|PMID:16249435|PMID:17116179|PMID:17878605|PMID:18249217|PMID:18528323|PMID:18644064|PMID:19639018|PMID:20378641|PMID:21163139|PMID:21380624|PMID:21775974|PMID:22051731|PMID:22706971|PMID:24254850|PMID:24897035|PMID:25441779|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741167|PMID:25741868|PMID:26340261|PMID:26467025|PMID:27234567|PMID:27615128|PMID:28215227|PMID:28420700|PMID:28492532|PMID:29764441|PMID:29927023|PMID:30481753|PMID:30655312|PMID:30666461|PMID:31131422|PMID:31198537|PMID:31498910|PMID:31825128|PMID:32266039|PMID:32708349|PMID:33046911|PMID:33434175|PMID:33532864|PMID:33663443|PMID:33851123|PMID:9398836 8795773 Hnf1b HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69136 D RGD:9068941 20200609 RGD PMID:15883474|REF_RGD_ID:2312750 8795773 Hnf1b HNF1 homeobox B gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69136 D RGD:9068941 20200609 RGD renal cysts and diabetes syndrome, OMIM:137920;DNA:splice-site mutation:intron:IVS2+1G>A PMID:11317673|REF_RGD_ID:1601484 8795800 Sbf2 SET binding factor 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1354184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10932274|PMID:12687498|PMID:15304601|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792|PMID:9536098 8795800 Sbf2 SET binding factor 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1354184 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10932274|PMID:12687498|PMID:15304601|PMID:15477569|PMID:16199547|PMID:17576681|PMID:22730194|PMID:24290377|PMID:24627108|PMID:25025039|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28440294|PMID:28492532|PMID:29590070|PMID:31070812|PMID:32376792|PMID:32906206|PMID:33726816|PMID:34169998|PMID:9536098 8795800 Sbf2 SET binding factor 2 gene DOID:0110190 Charcot-Marie-Tooth disease type 4B2 ISO RGD:1354184 D RGD:7240710 20180130 OMIM 8795800 Sbf2 SET binding factor 2 gene DOID:0110190 Charcot-Marie-Tooth disease type 4B2 ISO RGD:1354184 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma PMID:10932274|PMID:12554688|PMID:12687498|PMID:15304601|PMID:15477569|PMID:16199547|PMID:17576681|PMID:22730194|PMID:24290377|PMID:25025039|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28440294|PMID:28492532|PMID:29590070|PMID:31673878|PMID:32376792|PMID:32906206|PMID:33726816|PMID:34169998|PMID:9521281|PMID:9536098 8795800 Sbf2 SET binding factor 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354184 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10932274|PMID:12687498|PMID:15304601|PMID:15477569|PMID:17576681|PMID:21840889|PMID:22730194|PMID:24627108|PMID:25231362|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28440294|PMID:28492532|PMID:29590070|PMID:31070812|PMID:32376792|PMID:32906206|PMID:33726816|PMID:34169998|PMID:9521281|PMID:9536098 8795800 Sbf2 SET binding factor 2 gene DOID:574 peripheral nervous system disease ISO RGD:1354184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532 8795800 Sbf2 SET binding factor 2 gene DOID:630 genetic disease ISO RGD:1354184 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22730194|PMID:24290377|PMID:25025039|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28440294|PMID:28492532|PMID:29590070|PMID:32376792|PMID:32906206|PMID:33726816|PMID:34169998|PMID:9536098 8795800 Sbf2 SET binding factor 2 gene DOID:870 neuropathy ISO RGD:1354184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532 8795844 Fnbp1 formin binding protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8795844 Fnbp1 formin binding protein 1 gene DOID:630 genetic disease ISO RGD:1350700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0050473 Alstrom syndrome ISO RGD:737465 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30250467 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0060025 immunoglobulin alpha deficiency susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human) PMID:19020530|REF_RGD_ID:11344917 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:49G>A(human) PMID:15114591|REF_RGD_ID:11352244 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258847 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0080162 lupus nephritis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:15146424|REF_RGD_ID:7204726 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0080846 latent autoimmune diabetes in adults ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :49A>G (human) PMID:12021137|REF_RGD_ID:2301997 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081120 Graves ophthalmopathy ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Graves Disease; DNA:SNP:promoter:-318C>T (human) PMID:16893393|REF_RGD_ID:7421511 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081120 Graves ophthalmopathy no_association ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:22663548|REF_RGD_ID:7421521 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19734241|REF_RGD_ID:7421523 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:737465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081267 graft-versus-host disease ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14642129 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:7515723|REF_RGD_ID:11344912 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:7515723|REF_RGD_ID:11344912 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:737465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0110751 type 1 diabetes mellitus 12 ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 12 PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:0110751 type 1 diabetes mellitus 12 susceptibility ISO RGD:737465 D RGD:7240710 20240320 OMIM 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:10325 silicosis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:16831302|REF_RGD_ID:4891515 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:10608 celiac disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Celiac disease, susceptibility to, 3 | ClinVar Annotator: match by term: GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3 PMID:10189842|PMID:10475192|PMID:11098935|PMID:11158025|PMID:12724780|PMID:15138458|PMID:15199380|PMID:15301861|PMID:15688186|PMID:24033266|PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:8817351|PMID:9259273|PMID:9398726 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:10608 celiac disease susceptibility ISO RGD:737465 D RGD:7240710 20240320 OMIM 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:11168 anogenital venereal wart ISO RGD:737465 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:11335 sarcoidosis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:14620161|REF_RGD_ID:4891520 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) PMID:12022356|REF_RGD_ID:7204724 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12236 primary biliary cholangitis disease_progression ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :rs231775, rs3087243, rs231725 (human) PMID:21594562|REF_RGD_ID:14398743 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12236 primary biliary cholangitis no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:49A>G(human) PMID:17482523|REF_RGD_ID:14398725 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:60G>A(rs3087243)(human) PMID:16584111|REF_RGD_ID:14398744 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD autoimmune biliary cirrhosis; DNA:SNP:CDS:49A>G, significant association with G allele (p<0.0002) PMID:10782900|REF_RGD_ID:2301998 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12306 vitiligo ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;DNA:polymorphisms: : PMID:15649153|REF_RGD_ID:7411687 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12306 vitiligo no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:18200060|REF_RGD_ID:7411697 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12306 vitiligo susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR:rs3087243(human) PMID:21794098|REF_RGD_ID:7411696 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12306 vitiligo susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:exon:+49A>G rs231775)(human) PMID:19129082|REF_RGD_ID:7411699 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731979|PMID:21841780|PMID:23104008 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:10369864|REF_RGD_ID:1300388 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-318C>T (human) PMID:9672157|REF_RGD_ID:2302001 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-318C>T (human) PMID:9861324|REF_RGD_ID:2302000 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T(rs11571302)(human) PMID:14986169|REF_RGD_ID:7421515 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs231779(human) PMID:20352109|REF_RGD_ID:7421517 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :49G>A (rs231775),rs3087243,(AT)n-3'UTR(human) PMID:15785242|REF_RGD_ID:7421507 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:exon,intron:49A>G (rs231775),1822C>T(human) PMID:12780750|REF_RGD_ID:7421505 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12361 Graves' disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:49G>A(human) PMID:10404810|REF_RGD_ID:11352245 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12365 malaria disease_progression ISO RGD:737465 D RGD:9068941 20200807 RGD PMID:28892065|REF_RGD_ID:38455986 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12365 malaria treatment ISO RGD:737466 D RGD:9068941 20200807 RGD PMID:28892065|REF_RGD_ID:38455986 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12549 hepatitis A disease_progression ISO RGD:737465 D RGD:9068941 20201127 RGD PMID:26347518|REF_RGD_ID:40818419 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12894 Sjogren's syndrome ISO RGD:737465 D RGD:9068941 20200609 RGD mRNA:increased expression:salivary gland: PMID:12528117|REF_RGD_ID:7421519 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human) PMID:16869018|REF_RGD_ID:7421506 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:13241 Behcet's disease ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :1661A>G,49C>A(human) PMID:19563524|REF_RGD_ID:7411682 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1394 urinary schistosomiasis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:multiple:Gabonese(human) PMID:22288822|REF_RGD_ID:7204674 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:14557 primary pulmonary hypertension ISO RGD:737465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1612 breast cancer ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SPNs:multiple: PMID:17825114|REF_RGD_ID:7421502 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1612 breast cancer ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20482250|REF_RGD_ID:7411684 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs3087243(human) PMID:19622768|REF_RGD_ID:7411686 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1909 melanoma ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21802280 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:1909 melanoma treatment ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :-11577G>A,rs3087243(human) PMID:23641913|REF_RGD_ID:7411681 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2043 hepatitis B disease_progression ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :-1722T>C(rs733618), 49A>G(rs231775)6230G>A(rs3087243)(human) PMID:15452244|REF_RGD_ID:14398731 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:exons:49A>G (rs231775), CT60 C > T(rs3087243)(human) PMID:30320190|REF_RGD_ID:14398726 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2377 multiple sclerosis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:10082437|REF_RGD_ID:1358538 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2377 multiple sclerosis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3087243,rs11571302(human) PMID:19740340|REF_RGD_ID:7411672 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2377 multiple sclerosis no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:49A>G (human) PMID:17942509|REF_RGD_ID:2301975 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2513 basal cell carcinoma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs3087243(human) PMID:19622768|REF_RGD_ID:7411686 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2773 contact dermatitis ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:11348467|REF_RGD_ID:7421503 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28807506 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:16708626|PMID:18699801|REF_RGD_ID:4891510|REF_RGD_ID:4891516 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs3087243 (human) PMID:19895365|REF_RGD_ID:4891526 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15316504|REF_RGD_ID:4891519 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human) PMID:17469155|REF_RGD_ID:4891527 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:12956753|PMID:16677453|PMID:17237396|REF_RGD_ID:4891514|REF_RGD_ID:4891517|REF_RGD_ID:4891521 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma no_association ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human) PMID:16926542|REF_RGD_ID:4891528 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma severity ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-318C>T (human) PMID:12114354|REF_RGD_ID:4891522 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma severity ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15871446|REF_RGD_ID:4891529 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:2841 asthma treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:11726402|REF_RGD_ID:11344922 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:21129004|REF_RGD_ID:4891499 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T (rs5742909) (human) PMID:20732370|REF_RGD_ID:4891504 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:321 tropical spastic paraparesis ISO RGD:737465 D RGD:9068941 20200831 RGD mRNA:decreased expression: T cell PMID:20945034|REF_RGD_ID:38549361 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:3310 atopic dermatitis ISO RGD:737465 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:22357516|REF_RGD_ID:7411700 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human) PMID:16445777|REF_RGD_ID:7411698 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4450 renal cell carcinoma ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:exons:rs3087243, rs231775 (human) PMID:17678726|REF_RGD_ID:7204723 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:10436391|REF_RGD_ID:11344920 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4483 rhinitis ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:T cell PMID:17625281|REF_RGD_ID:4891512 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:10712436|REF_RGD_ID:6902936 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:10712436|REF_RGD_ID:6902936 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:8206086|REF_RGD_ID:11352257 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:557 kidney disease susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:exon:49A>G(human) PMID:22700162|REF_RGD_ID:11344910 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:574 peripheral nervous system disease ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:5773 oral submucous fibrosis ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:5844 myocardial infarction ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:49A>G (human) PMID:17652883|REF_RGD_ID:2301976 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:612 primary immunodeficiency disease ISO RGD:737465 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25329329|PMID:25741868|PMID:28492532|PMID:30250467|PMID:32499645|PMID:35753512|PMID:35999394 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:630 genetic disease ISO RGD:737465 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25213377|PMID:25329329|PMID:27102614|PMID:27908448|PMID:28492532|PMID:28960754|PMID:29200144|PMID:29330115|PMID:29729943|PMID:30443250|PMID:31955317|PMID:31993940|PMID:32499327|PMID:32623363 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:684 hepatocellular carcinoma ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:CD4+ and CD8+ T cells: PMID:28648905|REF_RGD_ID:14398741 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :rs231775,rs231725(human) PMID:23432218|REF_RGD_ID:14398742 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:7148 rheumatoid arthritis ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:718 autoimmune hemolytic anemia susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:49G>A(p.T17A)(human) PMID:12555221|REF_RGD_ID:11352242 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:7188 autoimmune thyroiditis ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hashimoto thyroiditis PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T(rs11571302)(human) PMID:14986169|REF_RGD_ID:7421515 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:7442 monoclonal gammopathy of uncertain significance susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:microsatellite polymorphism:exon: : PMID:11167807|REF_RGD_ID:11352247 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:783 end stage renal disease ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Wegener Granulomatosis;DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) PMID:15708894|REF_RGD_ID:7204725 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:820 myocarditis ISO RGD:61975 D RGD:9068941 20200609 RGD PMID:16198253|REF_RGD_ID:7204512 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:850 lung disease ISO RGD:737466 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20385880|REF_RGD_ID:4891507 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:8893 psoriasis treatment ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:10974034|REF_RGD_ID:7411683 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737466 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:10611340|REF_RGD_ID:4891523 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:49A>G (human) PMID:12114354|REF_RGD_ID:4891522 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:18049334|REF_RGD_ID:7204722 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737466 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:15701862|REF_RGD_ID:4891518 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9001285 Alcoholic Liver Diseases susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP::-318 T>C(rs5742909)(human) PMID:15208156|REF_RGD_ID:14398728 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:plasma: PMID:18026823|REF_RGD_ID:2312302 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:15914560|REF_RGD_ID:11352246 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:737465 D RGD:9068941 20200609 RGD protein:increased expression:T cell PMID:16094420|REF_RGD_ID:11344923 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:9223321|REF_RGD_ID:4891524 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002457 Experimental Arthritis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:7543497|REF_RGD_ID:7204519 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:61975 D RGD:9068941 20200609 RGD PMID:22354915|REF_RGD_ID:7204500 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002720 Splenomegaly treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:10676886|REF_RGD_ID:14398737 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:9379015|REF_RGD_ID:6902906 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9002805 Enterocolitis treatment ISO RGD:737465 D RGD:9068941 20200609 RGD associated with cancers; PMID:16710025|REF_RGD_ID:14398729 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs:exons:rs3087243, rs231775 Caucasian(human) PMID:19815671|REF_RGD_ID:7204687 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:exon,promoter:49A>G,-318 T>C(human) PMID:12696006|REF_RGD_ID:14398739 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:24041689|REF_RGD_ID:7411680 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004150 Lymphadenopathy treatment ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:10676886|REF_RGD_ID:14398737 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004236 Autoimmune Hypothyroidism ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, AUTOIMMUNE PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:61975 D RGD:9068941 20200609 RGD PMID:18074399|REF_RGD_ID:7204518 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:14551031|REF_RGD_ID:7204516 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs733618, chinese(human) PMID:22418270|REF_RGD_ID:7204671 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:12096784|REF_RGD_ID:7204515 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :rs231775, korean(human) PMID:20940051|REF_RGD_ID:7204678 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9005167 Cryptogenic Cirrhosis susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T(human) PMID:18049163|REF_RGD_ID:14398738 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9005372 Inflammation ISO RGD:737465 D RGD:9068941 20200609 RGD associated with Silicosis;protein:increased expression:T cell PMID:21072213|REF_RGD_ID:4891500 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:11481266|REF_RGD_ID:7421509 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:14528321|REF_RGD_ID:7204514 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:9407517|REF_RGD_ID:7204727 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:22189844|REF_RGD_ID:7204675 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007355 Hashimoto Disease ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hashimoto Disease PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:737465 D RGD:7240710 20240320 OMIM 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:737465 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION | ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION PMID:10189842|PMID:10475192|PMID:11098935|PMID:11158025|PMID:11343122|PMID:12353035|PMID:12577056|PMID:12724780|PMID:15138458|PMID:15199380|PMID:15301861|PMID:15688186|PMID:16199547|PMID:17576681|PMID:19380800|PMID:24033266|PMID:25213377|PMID:25329329|PMID:25741868|PMID:25814141|PMID:26478010|PMID:26644313|PMID:26884280|PMID:27102614|PMID:27418640|PMID:27577878|PMID:27908448|PMID:28492532|PMID:28960754|PMID:28983403|PMID:29077208|PMID:29200144|PMID:29225858|PMID:29305966|PMID:29330115|PMID:29375547|PMID:29729943|PMID:29796761|PMID:30048690|PMID:30250467|PMID:30326257|PMID:30377434|PMID:30443250|PMID:30940614|PMID:31396201|PMID:31955317|PMID:31993940|PMID:32499327|PMID:32499645|PMID:32531373|PMID:32623363|PMID:33864888|PMID:34111452|PMID:34128135|PMID:34628649|PMID:34975878|PMID:35599849|PMID:35753512|PMID:35999394|PMID:8817351|PMID:9259273|PMID:9398726|PMID:9536098 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V susceptibility ISO RGD:737465 D RGD:7240710 20240320 OMIM 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9007651 Chronic Bronchitis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:19386687|REF_RGD_ID:4891509 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP: :-318C>T(human) PMID:16489681|REF_RGD_ID:14398727 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:737465 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:737465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:10189842|PMID:10475192|PMID:11098935|PMID:11158025|PMID:15138458|PMID:15301861|PMID:15688186|PMID:24033266|PMID:25741868|PMID:26884280|PMID:27102614|PMID:27577878|PMID:28492532|PMID:30377434|PMID:30940614|PMID:8817351|PMID:9259273|PMID:9398726 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9074 systemic lupus erythematosus disease_progression ISO RGD:737466 D RGD:9068941 20200609 RGD PMID:19966213|REF_RGD_ID:7204684 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:737465 D RGD:7240710 20240320 OMIM 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9119 acute myeloid leukemia ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR:rs3087243(human) PMID:19092854|REF_RGD_ID:11344911 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9383 iridocyclitis ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:polymorphism: :-318C>T,(AT)16(human) PMID:17287608|REF_RGD_ID:7421512 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9538 multiple myeloma susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:microsatellite polymorphism:exon: : PMID:11167807|REF_RGD_ID:11352247 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:9068941 20200609 RGD PMID:9259273|REF_RGD_ID:1300385 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human) PMID:18443194|REF_RGD_ID:2301974 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S) PMID:8817351|REF_RGD_ID:2301958 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1661A>G (human) PMID:16671945|REF_RGD_ID:2301995 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:986 alopecia areata ISO RGD:737465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 8795868 Ctla4 cytotoxic T-lymphocyte associated protein 4 gene DOID:986 alopecia areata susceptibility ISO RGD:737465 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR:rs3087243(human) PMID:23567921|REF_RGD_ID:7411701 8795894 Fcamr Fc alpha and mu receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8795894 Fcamr Fc alpha and mu receptor gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8795894 Fcamr Fc alpha and mu receptor gene DOID:12849 autistic disorder ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8795894 Fcamr Fc alpha and mu receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8795894 Fcamr Fc alpha and mu receptor gene DOID:630 genetic disease ISO RGD:1605024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795894 Fcamr Fc alpha and mu receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605024 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8795894 Fcamr Fc alpha and mu receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8795904 Saxo1 stabilizer of axonemal microtubules 1 gene DOID:630 genetic disease ISO RGD:1322281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795915 Ubtd2 ubiquitin domain containing 2 gene DOID:630 genetic disease ISO RGD:1601834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795922 Hgh1 HGH1 homolog gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1602718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8795922 Hgh1 HGH1 homolog gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1602718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8795922 Hgh1 HGH1 homolog gene DOID:4621 holoprosencephaly ISO RGD:1602718 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8795922 Hgh1 HGH1 homolog gene DOID:630 genetic disease ISO RGD:1602718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795932 Rarres1 retinoic acid receptor responder 1 gene DOID:0050873 follicular lymphoma ISO RGD:1551283 D RGD:9068941 20220825 MouseDO OMIM:151430 8795932 Rarres1 retinoic acid receptor responder 1 gene DOID:630 genetic disease ISO RGD:1319886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795932 Rarres1 retinoic acid receptor responder 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1319886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16134180 8795932 Rarres1 retinoic acid receptor responder 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8795949 Dleu7 deleted in lymphocytic leukemia 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1605843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8795949 Dleu7 deleted in lymphocytic leukemia 7 gene DOID:1059 intellectual disability ISO RGD:1605843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8795949 Dleu7 deleted in lymphocytic leukemia 7 gene DOID:630 genetic disease ISO RGD:1605843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8795955 Fgf10 fibroblast growth factor 10 gene DOID:0050331 lacrimoauriculodentodigital syndrome 1 ISO RGD:734330 D RGD:8554872 20230704 ClinVar ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:16630169|PMID:17213838|PMID:25741868|PMID:26955834|PMID:28492532 8795955 Fgf10 fibroblast growth factor 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8795955 Fgf10 fibroblast growth factor 10 gene DOID:0080395 orofacial cleft 1 ISO RGD:734330 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Orofacial cleft 1 PMID:25741868 8795955 Fgf10 fibroblast growth factor 10 gene DOID:0081370 LADD syndrome ISO RGD:734330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:16630169|PMID:17213838|PMID:25741868|PMID:26955834|PMID:28492532 8795955 Fgf10 fibroblast growth factor 10 gene DOID:0081372 lacrimoauriculodentodigital syndrome 3 ISO RGD:734330 D RGD:7240710 20230125 OMIM 8795955 Fgf10 fibroblast growth factor 10 gene DOID:0081372 lacrimoauriculodentodigital syndrome 3 ISO RGD:734330 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 PMID:15654336|PMID:16501574|PMID:16630169|PMID:37077496 8795955 Fgf10 fibroblast growth factor 10 gene DOID:0111549 aplasia of lacrimal and salivary glands ISO RGD:734330 D RGD:7240710 20180130 OMIM 8795955 Fgf10 fibroblast growth factor 10 gene DOID:0111549 aplasia of lacrimal and salivary glands ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands | ClinVar Annotator: match by term: Salivary glands, absence of PMID:15654336|PMID:16630169|PMID:17213838|PMID:25741868|PMID:28492532 8795955 Fgf10 fibroblast growth factor 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8795955 Fgf10 fibroblast growth factor 10 gene DOID:10486 intestinal atresia ISO RGD:10578 D RGD:9068941 20220825 MouseDO 8795955 Fgf10 fibroblast growth factor 10 gene DOID:10533 viral pneumonia ISO RGD:10578 D RGD:9068941 20210611 RGD protein:increased expression:epithelial stem/progenitor cells (mouse) PMID:27322618|REF_RGD_ID:127284849 8795955 Fgf10 fibroblast growth factor 10 gene DOID:10533 viral pneumonia treatment ISO RGD:10578 D RGD:9068941 20210611 RGD PMID:27322618|REF_RGD_ID:127284849 8795955 Fgf10 fibroblast growth factor 10 gene DOID:10787 premature menopause treatment ISO RGD:10578 D RGD:9068941 20210528 RGD PMID:27679811|REF_RGD_ID:126928135 8795955 Fgf10 fibroblast growth factor 10 gene DOID:10892 hypospadias ISO RGD:2606 D RGD:9068941 20200609 RGD PMID:19464577|REF_RGD_ID:2314151 8795955 Fgf10 fibroblast growth factor 10 gene DOID:3151 skin squamous cell carcinoma ISO RGD:10578 D RGD:9068941 20210528 RGD Pten conditional KO mouse PMID:24582960|REF_RGD_ID:126928134 8795955 Fgf10 fibroblast growth factor 10 gene DOID:3178 skin papilloma ISO RGD:10578 D RGD:9068941 20210528 RGD protein:increased expression:skin (mouse) PMID:24582960|REF_RGD_ID:126928134 8795955 Fgf10 fibroblast growth factor 10 gene DOID:3910 lung adenocarcinoma ISO RGD:734330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8795955 Fgf10 fibroblast growth factor 10 gene DOID:630 genetic disease ISO RGD:734330 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8795955 Fgf10 fibroblast growth factor 10 gene DOID:674 cleft palate ISO RGD:734330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2606 D RGD:9068941 20210618 RGD PMID:11952999|REF_RGD_ID:127284874 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:734330 D RGD:9068941 20210528 RGD human protein in mouse model PMID:10381813|REF_RGD_ID:126928132 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:734330 D RGD:9068941 20210528 RGD human protein in mouse model with bacterial delivery system PMID:19736360|REF_RGD_ID:126928133 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9000099 Experimental Colitis treatment ISO RGD:734330 D RGD:9068941 20210611 RGD human gene product in mouse model PMID:23676805|REF_RGD_ID:127284855 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9000656 Penetrating Wounds treatment ISO RGD:734330 D RGD:9068941 20210528 RGD human protein in rat model PMID:10417753|REF_RGD_ID:126928129 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9000955 Acute Otitis Media ISO RGD:10578 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743467 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:10578 D RGD:9068941 20210528 RGD mRNA:decreased expression:peritoneum (mouse) PMID:31431501|REF_RGD_ID:126928131 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:10578 D RGD:9068941 20210528 RGD miR-145 inhibitor PMID:31431501|REF_RGD_ID:126928131 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2606 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18421211|REF_RGD_ID:2292665 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9008939 Breast Neoplasms ISO RGD:734330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438407 8795955 Fgf10 fibroblast growth factor 10 gene DOID:9296 cleft lip ISO RGD:734330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8795970 Miox myo-inositol oxygenase gene DOID:0060041 autism spectrum disorder ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8795970 Miox myo-inositol oxygenase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:737368 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8795970 Miox myo-inositol oxygenase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8795970 Miox myo-inositol oxygenase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8795970 Miox myo-inositol oxygenase gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:737368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 8795970 Miox myo-inositol oxygenase gene DOID:10581 metachromatic leukodystrophy ISO RGD:737368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8795970 Miox myo-inositol oxygenase gene DOID:1059 intellectual disability ISO RGD:737368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8795970 Miox myo-inositol oxygenase gene DOID:630 genetic disease ISO RGD:737368 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8795990 Egfr epidermal growth factor receptor gene DOID:0050424 familial adenomatous polyposis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 8795990 Egfr epidermal growth factor receptor gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 8795990 Egfr epidermal growth factor receptor gene DOID:0050865 tongue squamous cell carcinoma treatment ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:19380367|REF_RGD_ID:8551769 8795990 Egfr epidermal growth factor receptor gene DOID:0050866 oral squamous cell carcinoma ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:11673832|REF_RGD_ID:126781761 8795990 Egfr epidermal growth factor receptor gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 8795990 Egfr epidermal growth factor receptor gene DOID:0080599 Coronavirus infectious disease ISO RGD:10511 D RGD:9068941 20220825 MouseDO 8795990 Egfr epidermal growth factor receptor gene DOID:0080855 Parkinsonism ISO RGD:2543 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:15857400|REF_RGD_ID:2289955 8795990 Egfr epidermal growth factor receptor gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9486961 8795990 Egfr epidermal growth factor receptor gene DOID:10283 prostate cancer ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:18467313|REF_RGD_ID:2293731 8795990 Egfr epidermal growth factor receptor gene DOID:10534 stomach cancer treatment ISO RGD:10511 D RGD:9068941 20200917 RGD associated with Helicobacter Infections PMID:28473630|REF_RGD_ID:38599214 8795990 Egfr epidermal growth factor receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:23019586|REF_RGD_ID:10059684 8795990 Egfr epidermal growth factor receptor gene DOID:10763 hypertension ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal cortex PMID:15827348|REF_RGD_ID:1580953 8795990 Egfr epidermal growth factor receptor gene DOID:11054 urinary bladder cancer ISO RGD:69152 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:28492532 8795990 Egfr epidermal growth factor receptor gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:16685269|REF_RGD_ID:2298502 8795990 Egfr epidermal growth factor receptor gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18006009|REF_RGD_ID:2289943 8795990 Egfr epidermal growth factor receptor gene DOID:1107 esophageal carcinoma ISO RGD:69152 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:15623594|PMID:16205628|PMID:16707764|PMID:16863509|PMID:17653080|PMID:19147750|PMID:19536777|PMID:20522446|PMID:22753918|PMID:23102728|PMID:24033266|PMID:25157968|PMID:25521405|PMID:26051236|PMID:29141884 8795990 Egfr epidermal growth factor receptor gene DOID:11166 papillomavirus infectious disease disease_progression ISO RGD:69152 D RGD:9068941 20200911 RGD associated with squamous cell carcinoma PMID:31430224|REF_RGD_ID:38599177 8795990 Egfr epidermal growth factor receptor gene DOID:11934 head and neck cancer ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:18089823|PMID:18355544|PMID:21172876|PMID:21274259|PMID:23380224|PMID:23578570|PMID:24934779|PMID:25057940|PMID:25157968|PMID:25176975|PMID:28492532|PMID:34012789 8795990 Egfr epidermal growth factor receptor gene DOID:127 leiomyoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31468104 8795990 Egfr epidermal growth factor receptor gene DOID:12849 autistic disorder ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8795990 Egfr epidermal growth factor receptor gene DOID:12858 Huntington's disease ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:12890790|REF_RGD_ID:10047165 8795990 Egfr epidermal growth factor receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:2543 D RGD:9068941 20200609 RGD PMID:22646904|REF_RGD_ID:7204501 8795990 Egfr epidermal growth factor receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18599591 8795990 Egfr epidermal growth factor receptor gene DOID:1307 dementia ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:2354367|REF_RGD_ID:10059682 8795990 Egfr epidermal growth factor receptor gene DOID:1324 lung cancer ISO RGD:69152 D RGD:7240710 20240320 OMIM 8795990 Egfr epidermal growth factor receptor gene DOID:1324 lung cancer ISO RGD:69152 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic | ClinVar Annotator: match by term: EGFR-related condition | ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15604253|PMID:15623594|PMID:15625347|PMID:15710947|PMID:15728811|PMID:15737014|PMID:15741570|PMID:15746034|PMID:15897572|PMID:15901872|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16166444|PMID:16187797|PMID:16199108|PMID:16199547|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16258541|PMID:16467080|PMID:16467085|PMID:16533793|PMID:16857818|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17387341|PMID:17429313|PMID:17473653|PMID:17473659|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:17904685|PMID:18093943|PMID:18176089|PMID:18193092|PMID:18227510|PMID:18303429|PMID:18325048|PMID:18334834|PMID:18355544|PMID:18379371|PMID:18408761|PMID:18495026|PMID:18497962|PMID:18509184|PMID:18528899|PMID:18550579|PMID:18596266|PMID:18948947|PMID:18981003|PMID:18992959|PMID:19059670|PMID:19060236|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19536777|PMID:19589612|PMID:19671738|PMID:19692680|PMID:19692684|PMID:19844187|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20559149|PMID:20573926|PMID:20808254|PMID:20823418|PMID:20942962|PMID:21057810|PMID:21132006|PMID:21172876|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21274259|PMID:21317742|PMID:21430269|PMID:21527506|PMID:21531810|PMID:21592614|PMID:21670455|PMID:21783417|PMID:21841502|PMID:21899495|PMID:21900837|PMID:21921847|PMID:22019513|PMID:22215752|PMID:22270724|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22588155|PMID:22753918|PMID:22760226|PMID:22809298|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23380224|PMID:23468066|PMID:23468851|PMID:23540867|PMID:23800712|PMID:23816960|PMID:23816963|PMID:23908693|PMID:23912954|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24039832|PMID:24065731|PMID:24202392|PMID:24212795|PMID:24326041|PMID:24406864|PMID:24439929|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24691054|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736073|PMID:24736080|PMID:24743239|PMID:24868098|PMID:24893891|PMID:24894453|PMID:25057940|PMID:25061320|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25498243|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25939061|PMID:25948633|PMID:25969368|PMID:26066407|PMID:26070531|PMID:26101090|PMID:26280531|PMID:26436111|PMID:26467025|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:26773740|PMID:26870997|PMID:26901136|PMID:26987750|PMID:27032107|PMID:27102076|PMID:27294619|PMID:27993330|PMID:28135048|PMID:28229982|PMID:28286242|PMID:28492532|PMID:28676220|PMID:28726809|PMID:28835699|PMID:28838405|PMID:28874603|PMID:28947568|PMID:28979142|PMID:29100434|PMID:29228562|PMID:29290256|PMID:29576263|PMID:29587953|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30405134|PMID:30429037|PMID:30588029|PMID:30610926|PMID:30796031|PMID:30981987|PMID:31175009|PMID:31175917|PMID:31290142|PMID:31314158|PMID:31721094|PMID:31779674|PMID:32171629|PMID:32190291|PMID:32191290|PMID:32512509|PMID:32602142|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33858029|PMID:33874989|PMID:33898318|PMID:34012789|PMID:34308104|PMID:34555730|PMID:34869019|PMID:35264596|PMID:36315513|PMID:36451132|PMID:36698436|PMID:7630400|PMID:9536098 8795990 Egfr epidermal growth factor receptor gene DOID:13976 peptic esophagitis ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:esophagus, basal cell PMID:11966524|REF_RGD_ID:10395244 8795990 Egfr epidermal growth factor receptor gene DOID:14330 Parkinson's disease ISO RGD:69152 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain PMID:15857400|REF_RGD_ID:2289955 8795990 Egfr epidermal growth factor receptor gene DOID:1612 breast cancer ISO RGD:69152 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17465220|REF_RGD_ID:2289949 8795990 Egfr epidermal growth factor receptor gene DOID:1712 aortic valve stenosis ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:10700187|REF_RGD_ID:734918 8795990 Egfr epidermal growth factor receptor gene DOID:1749 squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:25157968|PMID:27993330 8795990 Egfr epidermal growth factor receptor gene DOID:1790 malignant mesothelioma ISO RGD:69152 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 8795990 Egfr epidermal growth factor receptor gene DOID:1793 pancreatic cancer ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27720938 8795990 Egfr epidermal growth factor receptor gene DOID:1793 pancreatic cancer ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:17452677|REF_RGD_ID:5131631 8795990 Egfr epidermal growth factor receptor gene DOID:1969 cerebral palsy ISO RGD:69152 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532|PMID:28726809|PMID:29899996|PMID:7630400 8795990 Egfr epidermal growth factor receptor gene DOID:1984 rectal benign neoplasm ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16839708 8795990 Egfr epidermal growth factor receptor gene DOID:2394 ovarian cancer ISO RGD:69152 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25382819|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34308104 8795990 Egfr epidermal growth factor receptor gene DOID:2615 papilloma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 8795990 Egfr epidermal growth factor receptor gene DOID:2615 papilloma susceptibility ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:10943841|REF_RGD_ID:734919 8795990 Egfr epidermal growth factor receptor gene DOID:2671 transitional cell carcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:3499520|REF_RGD_ID:10395259 8795990 Egfr epidermal growth factor receptor gene DOID:2671 transitional cell carcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:16469638|REF_RGD_ID:2289980 8795990 Egfr epidermal growth factor receptor gene DOID:2723 dermatitis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 8795990 Egfr epidermal growth factor receptor gene DOID:2841 asthma ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:21224214|REF_RGD_ID:5131633 8795990 Egfr epidermal growth factor receptor gene DOID:2841 asthma ISO RGD:10511 D RGD:9068941 20200609 RGD protein:increased expression:lung epithelium (mouse) PMID:21072743|REF_RGD_ID:5131642 8795990 Egfr epidermal growth factor receptor gene DOID:2841 asthma ISO RGD:2543 D RGD:9068941 20200609 RGD protein:increased expression:lung epithelium (rat) PMID:19954006|REF_RGD_ID:5131870 8795990 Egfr epidermal growth factor receptor gene DOID:2841 asthma severity ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (human) PMID:12580917|REF_RGD_ID:5131468 8795990 Egfr epidermal growth factor receptor gene DOID:2871 endometrial carcinoma ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:28492532 8795990 Egfr epidermal growth factor receptor gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:22549618|REF_RGD_ID:126790474 8795990 Egfr epidermal growth factor receptor gene DOID:289 endometriosis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8795990 Egfr epidermal growth factor receptor gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:10511 D RGD:9068941 20200911 RGD PMID:28404843|REF_RGD_ID:38599178 8795990 Egfr epidermal growth factor receptor gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:69152 D RGD:9068941 20200911 RGD associated with lung adenocarcinoma; PMID:22173705|PMID:29621876|REF_RGD_ID:38599162|REF_RGD_ID:38599176 8795990 Egfr epidermal growth factor receptor gene DOID:299 adenocarcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20934974|PMID:21541241|PMID:22042947|PMID:2523869|PMID:27720938 8795990 Egfr epidermal growth factor receptor gene DOID:3021 acute kidney failure ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11340354|REF_RGD_ID:10395241 8795990 Egfr epidermal growth factor receptor gene DOID:3021 acute kidney failure ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14638913 8795990 Egfr epidermal growth factor receptor gene DOID:305 carcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302576 8795990 Egfr epidermal growth factor receptor gene DOID:3068 glioblastoma ISO RGD:69152 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme, somatic PMID:15118073|PMID:15118125|PMID:15329413|PMID:15710947|PMID:15738541|PMID:16011858|PMID:16115929|PMID:17177598|PMID:18199554|PMID:18458038|PMID:19536777|PMID:19671738|PMID:19922469|PMID:20479403|PMID:21531810|PMID:21841502|PMID:22753918|PMID:2302402|PMID:23102728|PMID:23242437|PMID:23945392|PMID:24033266|PMID:25157968|PMID:26619011|PMID:28492532|PMID:31396478 8795990 Egfr epidermal growth factor receptor gene DOID:3070 high grade glioma ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:17177598|PMID:26619011 8795990 Egfr epidermal growth factor receptor gene DOID:3070 high grade glioma treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:10616092|REF_RGD_ID:38599219 8795990 Egfr epidermal growth factor receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:2543 D RGD:9068941 20200609 RGD PMID:22732689|REF_RGD_ID:7204496 8795990 Egfr epidermal growth factor receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:bronchial epithelium (human) PMID:16393673|REF_RGD_ID:5131627 8795990 Egfr epidermal growth factor receptor gene DOID:3347 osteosarcoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22235915 8795990 Egfr epidermal growth factor receptor gene DOID:3459 breast carcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD DNA:amplification:cds, 3' utr (human) PMID:18413808|REF_RGD_ID:2293732 8795990 Egfr epidermal growth factor receptor gene DOID:3459 breast carcinoma disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:18522728|REF_RGD_ID:2293728 8795990 Egfr epidermal growth factor receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma PMID:23485129|PMID:25157968 8795990 Egfr epidermal growth factor receptor gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (human) PMID:10385363|REF_RGD_ID:5131486 8795990 Egfr epidermal growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:21177177|PMID:8879184|REF_RGD_ID:5131634|REF_RGD_ID:5131638 8795990 Egfr epidermal growth factor receptor gene DOID:3770 pulmonary fibrosis ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:7524566|REF_RGD_ID:5131873 8795990 Egfr epidermal growth factor receptor gene DOID:3905 lung carcinoma ISO RGD:69152 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15788655|PMID:15897572|PMID:15901872|PMID:16043828|PMID:16115929|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16258541|PMID:16533793|PMID:16857818|PMID:16863509|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17192902|PMID:17236554|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17368623|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17510392|PMID:17726540|PMID:17877814|PMID:17904685|PMID:17941001|PMID:17973572|PMID:18000506|PMID:18093943|PMID:18176089|PMID:18227510|PMID:18261621|PMID:18303429|PMID:18372921|PMID:18408761|PMID:18509184|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096301|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19536777|PMID:19589612|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20573926|PMID:21057810|PMID:21132006|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21670455|PMID:21783417|PMID:21841502|PMID:21899495|PMID:21900837|PMID:21921847|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22483783|PMID:22588155|PMID:22753918|PMID:22760226|PMID:22848293|PMID:22992668|PMID:23026641|PMID:23102728|PMID:23371856|PMID:23468066|PMID:23540867|PMID:23816960|PMID:23816963|PMID:23912954|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24439929|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24729716|PMID:24736066|PMID:24736073|PMID:24736080|PMID:24868098|PMID:24893891|PMID:25157968|PMID:25176975|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:26467025|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:27032107|PMID:27102076|PMID:27993330|PMID:28492532|PMID:28947568|PMID:30610926|PMID:31314158|PMID:31779674|PMID:32913967|PMID:33326033|PMID:33707471|PMID:33858029|PMID:35264596 8795990 Egfr epidermal growth factor receptor gene DOID:3907 lung squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:1111234672|PMID:15118073|PMID:15118125|PMID:15329413|PMID:15623594|PMID:15897572|PMID:16043828|PMID:16205628|PMID:16707764|PMID:16863509|PMID:16931592|PMID:17368623|PMID:17653080|PMID:17973572|PMID:18000506|PMID:18372921|PMID:18509184|PMID:19147750|PMID:19536777|PMID:19922469|PMID:20522446|PMID:20942962|PMID:22753918|PMID:23102728|PMID:23945392|PMID:24033266|PMID:25157968|PMID:25382819|PMID:25521405|PMID:25741868|PMID:26051236|PMID:26619011|PMID:27294619|PMID:28492532|PMID:29141884|PMID:30098700|PMID:30610926|PMID:31721094|PMID:32171629|PMID:32978515|PMID:32978518 8795990 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:69152 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma | ClinVar Annotator: match by term: Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15604253|PMID:15623594|PMID:15625347|PMID:15681531|PMID:15710947|PMID:15728811|PMID:15737014|PMID:15738541|PMID:15741570|PMID:15788655|PMID:15897572|PMID:15901872|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16187797|PMID:16199108|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16205628|PMID:16258541|PMID:16467085|PMID:16533793|PMID:16707764|PMID:16730855|PMID:16863509|PMID:16865253|PMID:16912157|PMID:16956694|PMID:17020982|PMID:17047654|PMID:17085664|PMID:17106442|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17332364|PMID:17387341|PMID:17429313|PMID:17473653|PMID:17473659|PMID:17510392|PMID:17545553|PMID:17653080|PMID:17726540|PMID:17877814|PMID:17904685|PMID:18089823|PMID:18093943|PMID:18176089|PMID:18199554|PMID:18227510|PMID:18303429|PMID:18325048|PMID:18334834|PMID:18372921|PMID:18408761|PMID:18450321|PMID:18458038|PMID:18509184|PMID:18596266|PMID:18628075|PMID:18948947|PMID:18981003|PMID:18992959|PMID:19096302|PMID:19096324|PMID:19147750|PMID:19381876|PMID:19455431|PMID:19536777|PMID:19589612|PMID:19671738|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20033049|PMID:20038723|PMID:20068085|PMID:20129249|PMID:20479403|PMID:20522446|PMID:20559149|PMID:20573926|PMID:20808254|PMID:21057810|PMID:21132006|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21317742|PMID:21430269|PMID:21527506|PMID:21531810|PMID:21572125|PMID:21592614|PMID:21670455|PMID:21718596|PMID:21783417|PMID:21841502|PMID:21899495|PMID:21900837|PMID:21921847|PMID:22019513|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22452896|PMID:22588155|PMID:22622260|PMID:22753918|PMID:22760226|PMID:22809298|PMID:22992668|PMID:2302402|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23468066|PMID:23485129|PMID:23540867|PMID:23800712|PMID:23816960|PMID:23816963|PMID:23945392|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24039832|PMID:24065731|PMID:24202392|PMID:24439929|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24729716|PMID:24736066|PMID:24736073|PMID:24736080|PMID:24868098|PMID:24893891|PMID:24894453|PMID:24934779|PMID:25061320|PMID:25157968|PMID:25382819|PMID:25521405|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25939061|PMID:25948633|PMID:25969368|PMID:26051236|PMID:26101090|PMID:26490356|PMID:26515464|PMID:26619011|PMID:26700910|PMID:26720284|PMID:27032107|PMID:27102076|PMID:27294619|PMID:27993330|PMID:28492532|PMID:28874603|PMID:28947568|PMID:29100434|PMID:29141884|PMID:29576263|PMID:29945477|PMID:30610926|PMID:31396478|PMID:31779674|PMID:33644199|PMID:33858029|PMID:33898318|PMID:34555730|PMID:36698436 8795990 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:69152 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31205511|PMID:32276600|REF_RGD_ID:151357000|REF_RGD_ID:153344584 8795990 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:11789762|REF_RGD_ID:126790479 8795990 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:69152 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:21124077|REF_RGD_ID:5131640 8795990 Egfr epidermal growth factor receptor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:27040853|REF_RGD_ID:13464349 8795990 Egfr epidermal growth factor receptor gene DOID:3910 lung adenocarcinoma ISO RGD:69152 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:1111234672|PMID:15118073|PMID:15118125|PMID:15329413|PMID:15710947|PMID:15737014|PMID:15738541|PMID:15897572|PMID:15901872|PMID:16011858|PMID:16115929|PMID:16203769|PMID:16204011|PMID:16204070|PMID:16865253|PMID:16956694|PMID:17047654|PMID:17106442|PMID:17177598|PMID:17192902|PMID:17285735|PMID:17317677|PMID:17387341|PMID:17429313|PMID:17473659|PMID:17877814|PMID:18199554|PMID:18303429|PMID:18408761|PMID:18458038|PMID:18509184|PMID:19096302|PMID:19147750|PMID:19455431|PMID:19536777|PMID:19671738|PMID:19692680|PMID:19692684|PMID:19922469|PMID:20022809|PMID:20038723|PMID:20479403|PMID:20573926|PMID:20942962|PMID:21132006|PMID:21531810|PMID:21670455|PMID:21783417|PMID:21841502|PMID:21900837|PMID:22215752|PMID:22285168|PMID:22370314|PMID:22452895|PMID:22622260|PMID:22753918|PMID:22760226|PMID:22992668|PMID:2302402|PMID:23102728|PMID:23242437|PMID:23816960|PMID:23945392|PMID:23948351|PMID:23982599|PMID:24033266|PMID:24212795|PMID:24439929|PMID:24736073|PMID:24868098|PMID:24893891|PMID:25157968|PMID:25382819|PMID:25741868|PMID:26066407|PMID:26490356|PMID:26515464|PMID:26619011|PMID:27032107|PMID:27102076|PMID:27294619|PMID:27993330|PMID:28492532|PMID:29228562|PMID:30098700|PMID:30610926|PMID:31396478|PMID:31721094|PMID:31779674|PMID:32171629|PMID:32978515|PMID:32978518 8795990 Egfr epidermal growth factor receptor gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:26824984|REF_RGD_ID:126790475 8795990 Egfr epidermal growth factor receptor gene DOID:3948 adrenocortical carcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23585556 8795990 Egfr epidermal growth factor receptor gene DOID:4450 renal cell carcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:18467719|REF_RGD_ID:2293730 8795990 Egfr epidermal growth factor receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8795990 Egfr epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:10511 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:26059825|REF_RGD_ID:11075076 8795990 Egfr epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:2543 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:26059825|REF_RGD_ID:11075076 8795990 Egfr epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD DNA:snp:cds:p.T790M (human) PMID:15737014|REF_RGD_ID:5131465 8795990 Egfr epidermal growth factor receptor gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:21419590|REF_RGD_ID:5131630 8795990 Egfr epidermal growth factor receptor gene DOID:4947 cholangiocarcinoma ISO RGD:69152 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:18550579|PMID:24728327|PMID:25741868|PMID:28492532 8795990 Egfr epidermal growth factor receptor gene DOID:5082 liver cirrhosis severity ISO RGD:69152 D RGD:9068941 20200609 RGD associated with non-alcoholic fatty liver disease;protein:increased expression:plasma PMID:28650518|REF_RGD_ID:14401722 8795990 Egfr epidermal growth factor receptor gene DOID:5409 lung small cell carcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20837450 8795990 Egfr epidermal growth factor receptor gene DOID:5419 schizophrenia ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (human) PMID:12192610|REF_RGD_ID:5131451 8795990 Egfr epidermal growth factor receptor gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15118073|PMID:15118125|PMID:15788655|PMID:17177598|PMID:20415598|PMID:21531084|PMID:23242437|PMID:23358982|PMID:24712396|PMID:25157968|PMID:25382819|PMID:25969368|PMID:26101090|PMID:26619011|PMID:28492532|PMID:28874603|PMID:29945477|PMID:31775759|PMID:34555730 8795990 Egfr epidermal growth factor receptor gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:69152 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15118073|PMID:15118125|PMID:15788655|PMID:17177598|PMID:20415598|PMID:21531084|PMID:23242437|PMID:23358982|PMID:24712396|PMID:25157968|PMID:25382819|PMID:25741868|PMID:25969368|PMID:26101090|PMID:26619011|PMID:28492532|PMID:28874603|PMID:29576263|PMID:29945477|PMID:31775759|PMID:33644199|PMID:33898318|PMID:34555730|PMID:36698436 8795990 Egfr epidermal growth factor receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:25741868|PMID:28492532 8795990 Egfr epidermal growth factor receptor gene DOID:571 median neuropathy ISO RGD:2543 D RGD:9068941 20210423 RGD PMID:18845940|REF_RGD_ID:126790486 8795990 Egfr epidermal growth factor receptor gene DOID:62 aortic valve disease ISO RGD:10511 D RGD:9068941 20220825 MouseDO 8795990 Egfr epidermal growth factor receptor gene DOID:630 genetic disease ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8795990 Egfr epidermal growth factor receptor gene DOID:6432 pulmonary hypertension ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:12896876|REF_RGD_ID:5131639 8795990 Egfr epidermal growth factor receptor gene DOID:6432 pulmonary hypertension ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:lung, arteriole (human) PMID:21492463|REF_RGD_ID:5131626 8795990 Egfr epidermal growth factor receptor gene DOID:684 hepatocellular carcinoma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 8795990 Egfr epidermal growth factor receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:69152 D RGD:9068941 20210423 RGD PMID:11355950|REF_RGD_ID:126781769 8795990 Egfr epidermal growth factor receptor gene DOID:850 lung disease ISO RGD:2543 D RGD:9068941 20200609 RGD Acute Lung Injury; mRNA:increased expression:lung (rat) PMID:9700116|REF_RGD_ID:1578630 8795990 Egfr epidermal growth factor receptor gene DOID:8947 diabetic retinopathy ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:7947554|REF_RGD_ID:1580957 8795990 Egfr epidermal growth factor receptor gene DOID:8947 diabetic retinopathy treatment ISO RGD:10511 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23831329|REF_RGD_ID:10059675 8795990 Egfr epidermal growth factor receptor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 8795990 Egfr epidermal growth factor receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2543 D RGD:9068941 20200609 RGD PMID:20869112|REF_RGD_ID:5131525 8795990 Egfr epidermal growth factor receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2543 D RGD:9068941 20200609 RGD protein:increased phosphorylation:spinal cord, astrocyte (rat) PMID:21402118|REF_RGD_ID:5131454 8795990 Egfr epidermal growth factor receptor gene DOID:9000081 Lymphatic Metastasis treatment ISO RGD:10511 D RGD:9068941 20200609 RGD associated with Squamous Cell Carcinoma of the Tongue PMID:19380367|REF_RGD_ID:8551769 8795990 Egfr epidermal growth factor receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21298351|PMID:21468131|PMID:22042947 8795990 Egfr epidermal growth factor receptor gene DOID:9000184 Ventricular Fibrillation treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:22028338|REF_RGD_ID:38676260 8795990 Egfr epidermal growth factor receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15723263|PMID:21173787|PMID:22042947 8795990 Egfr epidermal growth factor receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 8795990 Egfr epidermal growth factor receptor gene DOID:9000918 Disease Progression ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20859196 8795990 Egfr epidermal growth factor receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17369752|PMID:17575224|PMID:23867902 8795990 Egfr epidermal growth factor receptor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:10511 D RGD:9068941 20200917 RGD PMID:30502657|REF_RGD_ID:38599215 8795990 Egfr epidermal growth factor receptor gene DOID:9001310 Tobacco Use Disorder ISO RGD:2543 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:21475988|REF_RGD_ID:5131452 8795990 Egfr epidermal growth factor receptor gene DOID:9001341 Chloracne ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21237254 8795990 Egfr epidermal growth factor receptor gene DOID:9002221 Hyperplasia ISO RGD:2543 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery (rat) PMID:21357274|REF_RGD_ID:5131466 8795990 Egfr epidermal growth factor receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate neoplasm PMID:23485129|PMID:25157968 8795990 Egfr epidermal growth factor receptor gene DOID:9002457 Experimental Arthritis ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7589090 8795990 Egfr epidermal growth factor receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16211241|PMID:21909139 8795990 Egfr epidermal growth factor receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:69152 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:18575766|REF_RGD_ID:2298499 8795990 Egfr epidermal growth factor receptor gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:mammary tumor cell, nucleus (human) PMID:19058255|REF_RGD_ID:5131867 8795990 Egfr epidermal growth factor receptor gene DOID:9002850 Immediate Hypersensitivity ISO RGD:69152 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:20357714|REF_RGD_ID:5131868 8795990 Egfr epidermal growth factor receptor gene DOID:9002928 Colonic Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569062|PMID:25200834 8795990 Egfr epidermal growth factor receptor gene DOID:9002936 Bile Duct Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17341899 8795990 Egfr epidermal growth factor receptor gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18703609|PMID:20859196|PMID:21329967 8795990 Egfr epidermal growth factor receptor gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17465227|REF_RGD_ID:2289947 8795990 Egfr epidermal growth factor receptor gene DOID:9003566 Mesothelioma ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21787763 8795990 Egfr epidermal growth factor receptor gene DOID:9003613 Laryngeal Neoplasms severity ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:8883413|REF_RGD_ID:5131485 8795990 Egfr epidermal growth factor receptor gene DOID:9003936 Cardiomegaly ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:15652507|REF_RGD_ID:1580954 8795990 Egfr epidermal growth factor receptor gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:69152 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:11206334|REF_RGD_ID:2289951 8795990 Egfr epidermal growth factor receptor gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:22885469 8795990 Egfr epidermal growth factor receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18844224|PMID:23867902 8795990 Egfr epidermal growth factor receptor gene DOID:9004610 Acute Lung Injury ISO RGD:10511 D RGD:9068941 20200609 RGD PMID:20935109|REF_RGD_ID:5131862 8795990 Egfr epidermal growth factor receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2543 D RGD:9068941 20200609 RGD PMID:12624003|REF_RGD_ID:1580955 8795990 Egfr epidermal growth factor receptor gene DOID:9004771 Vascular Remodeling treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:31264901|REF_RGD_ID:38599217 8795990 Egfr epidermal growth factor receptor gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21786012|PMID:22277784 8795990 Egfr epidermal growth factor receptor gene DOID:9005172 Lung Neoplasms ISO RGD:69152 D RGD:9068941 20240201 CTD CTD Direct Evidence: marker/mechanism PMID:18927287|PMID:19336973|PMID:20934974|PMID:21541241|PMID:23523951|PMID:27935865|PMID:29106415 8795990 Egfr epidermal growth factor receptor gene DOID:9005172 Lung Neoplasms ISO RGD:69152 D RGD:9068941 20240201 RGD protein:increased expression:tumor (human) PMID:11894009|REF_RGD_ID:5131628 8795990 Egfr epidermal growth factor receptor gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21786012 8795990 Egfr epidermal growth factor receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2523869|PMID:8603490 8795990 Egfr epidermal growth factor receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:17203220|REF_RGD_ID:2289979 8795990 Egfr epidermal growth factor receptor gene DOID:9005372 Inflammation ISO RGD:2543 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:22824323|REF_RGD_ID:7204495 8795990 Egfr epidermal growth factor receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2543 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 8795990 Egfr epidermal growth factor receptor gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:31264901|REF_RGD_ID:38599217 8795990 Egfr epidermal growth factor receptor gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced treatment ISO RGD:2543 D RGD:9068941 20200917 RGD PMID:31264901|REF_RGD_ID:38599217 8795990 Egfr epidermal growth factor receptor gene DOID:9006169 Head and Neck Neoplasms ISO RGD:69152 D RGD:9068941 20220901 CTD CTD Direct Evidence: marker/mechanism PMID:12942316|PMID:15342401|PMID:23917044 8795990 Egfr epidermal growth factor receptor gene DOID:9006169 Head and Neck Neoplasms ISO RGD:69152 D RGD:9068941 20220901 RGD PMID:16467544|REF_RGD_ID:5131641 8795990 Egfr epidermal growth factor receptor gene DOID:9006586 Neonatal Inflammatory Skin and Bowel Disease 2 ISO RGD:69152 D RGD:7240710 20240320 OMIM 8795990 Egfr epidermal growth factor receptor gene DOID:9006586 Neonatal Inflammatory Skin and Bowel Disease 2 ISO RGD:69152 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 2 PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16258541|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17332364|PMID:17510392|PMID:17726540|PMID:18093943|PMID:18227510|PMID:18550579|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22992668|PMID:23102728|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24691054|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25157968|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:26436111|PMID:26515464|PMID:26700910|PMID:26720284|PMID:28492532|PMID:28947568|PMID:30610926|PMID:32602142|PMID:33858029 8795990 Egfr epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:26515464|PMID:26700910|PMID:26720284|PMID:27294619|PMID:28166811|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28947568|PMID:29290256|PMID:29625052|PMID:29899996|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33707471|PMID:7630400|PMID:9536098 8795990 Egfr epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:34555730|PMID:7630400|PMID:9536098 8795990 Egfr epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29576263|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:32171629|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33858029|PMID:33898318|PMID:34555730|PMID:36698436|PMID:7630400|PMID:9536098 8795990 Egfr epidermal growth factor receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69152 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1111234672|PMID:11423618|PMID:15118073|PMID:15118125|PMID:15272417|PMID:15329413|PMID:15623594|PMID:15728811|PMID:15737014|PMID:15901872|PMID:16199547|PMID:16258541|PMID:16467080|PMID:16857818|PMID:16912157|PMID:17020982|PMID:17085664|PMID:17285735|PMID:17332364|PMID:17510392|PMID:17576681|PMID:17726540|PMID:17877814|PMID:18093943|PMID:18227510|PMID:18495026|PMID:18596266|PMID:18981003|PMID:18992959|PMID:19096324|PMID:19381876|PMID:19589612|PMID:20033049|PMID:20068085|PMID:20129249|PMID:20942962|PMID:21194487|PMID:21233402|PMID:21248300|PMID:21252721|PMID:21430269|PMID:21531810|PMID:21921847|PMID:22215752|PMID:22452896|PMID:22588155|PMID:22848293|PMID:22992668|PMID:23102728|PMID:23242437|PMID:23358982|PMID:23540867|PMID:23816963|PMID:24033266|PMID:24065731|PMID:24202392|PMID:24326041|PMID:24453288|PMID:24478319|PMID:24623981|PMID:24636847|PMID:24658966|PMID:24712396|PMID:24728327|PMID:24729716|PMID:24736066|PMID:24736080|PMID:24893891|PMID:25111073|PMID:25157968|PMID:25176975|PMID:25288236|PMID:25382819|PMID:25668228|PMID:25741868|PMID:25923549|PMID:25923550|PMID:25969368|PMID:26101090|PMID:26467025|PMID:26515464|PMID:26700910|PMID:26720284|PMID:26870997|PMID:27294619|PMID:28492532|PMID:28726809|PMID:28835699|PMID:28874603|PMID:28947568|PMID:29290256|PMID:29576263|PMID:29625052|PMID:29899996|PMID:29945477|PMID:30098700|PMID:30325992|PMID:30610926|PMID:30981987|PMID:31314158|PMID:31721094|PMID:32171629|PMID:32191290|PMID:32512509|PMID:32913967|PMID:32978515|PMID:32978518|PMID:33326033|PMID:33644199|PMID:33707471|PMID:33858029|PMID:33898318|PMID:34308104|PMID:34555730|PMID:35264596|PMID:36698436|PMID:7630400|PMID:9536098 8795990 Egfr epidermal growth factor receptor gene DOID:9007502 Brain Neoplasms ISO RGD:69152 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:17177598|PMID:26619011|PMID:28492532 8795990 Egfr epidermal growth factor receptor gene DOID:9007692 Insulin Resistance ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22238402 8795990 Egfr epidermal growth factor receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:10511 D RGD:9068941 20200917 RGD PMID:28473630|REF_RGD_ID:38599214 8795990 Egfr epidermal growth factor receptor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:69152 D RGD:9068941 20200911 RGD associated with gastritis; PMID:25051417|REF_RGD_ID:38599160 8795990 Egfr epidermal growth factor receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:69152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:15118073|PMID:15118125|PMID:15329413|PMID:15604253|PMID:15625347|PMID:15710947|PMID:15741570|PMID:15998907|PMID:16011858|PMID:16105816|PMID:16115929|PMID:16166444|PMID:16187797|PMID:16199108|PMID:16204070|PMID:16467085|PMID:16533793|PMID:17192902|PMID:17285735|PMID:17473653|PMID:17904685|PMID:18176089|PMID:18325048|PMID:18334834|PMID:18948947|PMID:19536777|PMID:19844187|PMID:19922469|PMID:20479403|PMID:20559149|PMID:20808254|PMID:21057810|PMID:21317742|PMID:21527506|PMID:21592614|PMID:21841502|PMID:21899495|PMID:22019513|PMID:22270724|PMID:22753918|PMID:22809298|PMID:23102728|PMID:23468066|PMID:24033266|PMID:24039832|PMID:24894453|PMID:25061320|PMID:25157968|PMID:28286242|PMID:28492532|PMID:28838405|PMID:29100434|PMID:30405134|PMID:30588029|PMID:30610926|PMID:30796031 8795990 Egfr epidermal growth factor receptor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10319864 8795990 Egfr epidermal growth factor receptor gene DOID:9008939 Breast Neoplasms ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16950593|PMID:18768436|PMID:19075277|PMID:20135347|PMID:20941507|PMID:23867902 8795990 Egfr epidermal growth factor receptor gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:10511 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, tumor (mouse) PMID:21107114|REF_RGD_ID:5037225 8795990 Egfr epidermal growth factor receptor gene DOID:9256 colorectal cancer ISO RGD:69152 D RGD:9068941 20200609 RGD PMID:15269313|REF_RGD_ID:5131632 8795990 Egfr epidermal growth factor receptor gene DOID:9256 colorectal cancer ISO RGD:69152 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:21398618|REF_RGD_ID:5131455 8795990 Egfr epidermal growth factor receptor gene DOID:9256 colorectal cancer resistance ISO RGD:69152 D RGD:9068941 20200609 RGD mRNA, protein:increased expression (human) PMID:20010090|REF_RGD_ID:5131871 8795990 Egfr epidermal growth factor receptor gene DOID:9351 diabetes mellitus ISO RGD:69152 D RGD:9068941 20220527 RGD associated with lung squamous cell carcinoma; protein:increased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 8795990 Egfr epidermal growth factor receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22238402 8795990 Egfr epidermal growth factor receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:2543 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:liver (rat) PMID:2833110|REF_RGD_ID:5131531 8795990 Egfr epidermal growth factor receptor gene DOID:9970 obesity ISO RGD:10511 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:liver (mouse) PMID:3624263|REF_RGD_ID:5131534 8796034 Shox SHOX homeobox gene DOID:0060847 Leri-Weill dyschondrosteosis ISO RGD:1349053 D RGD:7240710 20180130 OMIM 8796034 Shox SHOX homeobox gene DOID:0060847 Leri-Weill dyschondrosteosis ISO RGD:1349053 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leri-Weill dyschondrosteosis PMID:11030412|PMID:11403039|PMID:11735031|PMID:11889214|PMID:11891678|PMID:12116253|PMID:12116254|PMID:12362035|PMID:15356038|PMID:15931687|PMID:17047016|PMID:17182655|PMID:17935511|PMID:21712857|PMID:22020182|PMID:22791839|PMID:23426818|PMID:23636926|PMID:24186869|PMID:25659810|PMID:25741868|PMID:26467025|PMID:27676402|PMID:27708272|PMID:28973083|PMID:32344414|PMID:34627339|PMID:9140395|PMID:9590292|PMID:9590293 8796034 Shox SHOX homeobox gene DOID:0112120 SHOX-related short stature ISO RGD:1349053 D RGD:7240710 20180130 OMIM 8796034 Shox SHOX homeobox gene DOID:0112120 SHOX-related short stature ISO RGD:1349053 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SHOX-related short stature PMID:11735031|PMID:11891678|PMID:12362035|PMID:16227037|PMID:17182655|PMID:21262861|PMID:21912078|PMID:22020182|PMID:22791839|PMID:23636926|PMID:24421874|PMID:25659810|PMID:25741868|PMID:26467025|PMID:27708272|PMID:32344414|PMID:34627339|PMID:9140395 8796034 Shox SHOX homeobox gene DOID:12849 autistic disorder ISO RGD:1349053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8796034 Shox SHOX homeobox gene DOID:5419 schizophrenia ISO RGD:1349053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8796034 Shox SHOX homeobox gene DOID:65 connective tissue disease ISO RGD:1349053 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:12362035|PMID:22020182|PMID:25659810|PMID:25741868|PMID:26467025 8796034 Shox SHOX homeobox gene DOID:9005842 Langer Mesomelic Dysplasia ISO RGD:1349053 D RGD:7240710 20180130 OMIM 8796034 Shox SHOX homeobox gene DOID:9005842 Langer Mesomelic Dysplasia ISO RGD:1349053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Langer mesomelic dysplasia syndrome PMID:11889214|PMID:12116254|PMID:17935511|PMID:21712857|PMID:25741868|PMID:9590292|PMID:9590293 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:0050444 infantile Refsum disease ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:9090381 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1350248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851857 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1350248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:16257970|PMID:25741868|PMID:28492532 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1350248 D RGD:7240710 20180130 OMIM 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1350248 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:17336976|PMID:17576681|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25016021|PMID:25640679|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28823628|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:32140910|PMID:32552793|PMID:9090381|PMID:9536098 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1350248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 PMID:28492532 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:10588 adrenoleukodystrophy ISO RGD:1350248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851857 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:11198 DiGeorge syndrome ISO RGD:1350248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:630 genetic disease ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:9002413 Peroxisome Biogenesis Disorder 7B ISO RGD:1350248 D RGD:7240710 20180130 OMIM 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:9002413 Peroxisome Biogenesis Disorder 7B ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7B PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25016021|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:9090381 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8796043 Pex26 peroxisomal biogenesis factor 26 gene DOID:905 Zellweger syndrome ISO RGD:1350248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:12717447|PMID:12851857|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16257970|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25741868|PMID:26287655|PMID:26627908|PMID:27392320|PMID:28492532|PMID:28944237|PMID:29947050|PMID:30366024|PMID:30446579|PMID:9090381 8796055 Tmem135 transmembrane protein 135 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1603382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 8796055 Tmem135 transmembrane protein 135 gene DOID:1059 intellectual disability ISO RGD:1603382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8796055 Tmem135 transmembrane protein 135 gene DOID:3068 glioblastoma ISO RGD:1603382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8796055 Tmem135 transmembrane protein 135 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1603382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8796055 Tmem135 transmembrane protein 135 gene DOID:630 genetic disease ISO RGD:1603382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:735777 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy PMID:17347258|PMID:19589774|PMID:25741868|PMID:26633542|PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050562 West syndrome ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome PMID:14504318|PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28525652|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18621678|PMID:18632234|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29100083|PMID:29141279 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9126059|PMID:9536098|PMID:9573403 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15133511|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18632234|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20358599|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21426328|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24412860|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24848745|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28842445|PMID:28864458|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:29981888|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30921204|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31440721|PMID:31487502|PMID:31618474|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32031527|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32593896|PMID:32613771|PMID:32702657|PMID:32845893|PMID:33067208|PMID:33084218|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34163418|PMID:34268891|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:34645491|PMID:35074891|PMID:35087721|PMID:35571373|PMID:35663268|PMID:36158059|PMID:36636894|PMID:36684540|PMID:9126059|PMID:9536098|PMID:9573403 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572417 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735778 D RGD:9068941 20220825 MouseDO 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:24337656|PMID:25741868|PMID:26467025|PMID:27781031|PMID:28492532|PMID:32090326|PMID:32427350 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060178 familial hemiplegic migraine ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:18621678|PMID:19220312|PMID:20301562|PMID:25741868|PMID:26467025|PMID:28012175|PMID:28492532|PMID:31880072 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:18930999|PMID:20100831|PMID:20522430|PMID:21844054|PMID:21864321|PMID:22151702|PMID:23195492|PMID:23808377|PMID:24277604|PMID:25378155|PMID:25741868|PMID:26096185|PMID:26467025|PMID:27267376|PMID:28084635|PMID:28150151|PMID:28492532|PMID:28842445|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:31782251 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:17347258|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20522430|PMID:21248271|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28084635|PMID:28150151|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:32238909 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:16525050|PMID:17054684|PMID:17347258|PMID:17576681|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20100831|PMID:20522430|PMID:21248271|PMID:21719429|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25576396|PMID:25669891|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28079314|PMID:28084635|PMID:28150151|PMID:28387369|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29100083|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:32056211|PMID:32238909|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:16525050|PMID:17054684|PMID:17347258|PMID:17576681|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20100831|PMID:20522430|PMID:21248271|PMID:21426328|PMID:21719429|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25576396|PMID:25669891|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28079314|PMID:28084635|PMID:28150151|PMID:28387369|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29100083|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:32056211|PMID:32090326|PMID:32238909|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735777 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:10486327|PMID:10742094|PMID:11118488|PMID:11940708|PMID:12083760|PMID:12086636|PMID:14702334|PMID:14738421|PMID:16458823|PMID:16525050|PMID:17054684|PMID:17347258|PMID:17576681|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20100831|PMID:20522430|PMID:21248271|PMID:21426328|PMID:21719429|PMID:21844054|PMID:21864321|PMID:22151702|PMID:22156295|PMID:23195492|PMID:23527921|PMID:23808377|PMID:23917401|PMID:24277604|PMID:24328833|PMID:25378155|PMID:25576396|PMID:25669891|PMID:25741868|PMID:26096185|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26680202|PMID:27267376|PMID:27465585|PMID:27781031|PMID:28079314|PMID:28084635|PMID:28150151|PMID:28387369|PMID:28492532|PMID:28735751|PMID:28842445|PMID:29100083|PMID:29655203|PMID:29760947|PMID:30525188|PMID:30659983|PMID:30868114|PMID:31782251|PMID:31864146|PMID:32056211|PMID:32090326|PMID:32238909|PMID:35571373|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0070309 absence epilepsy ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:11254445|PMID:18021921|PMID:21396429|PMID:22550089|PMID:22780858|PMID:23398611|PMID:24679980|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611|PMID:31765958 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0070379 developmental and epileptic encephalopathy 6B ISO RGD:735777 D RGD:7240710 20210526 OMIM 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0070379 developmental and epileptic encephalopathy 6B ISO RGD:735777 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6B | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6B, non-Dravet PMID:11940708|PMID:12083760|PMID:12566275|PMID:12821740|PMID:16199547|PMID:17054684|PMID:17347258|PMID:17561957|PMID:17576681|PMID:18755274|PMID:18804930|PMID:18930999|PMID:19350499|PMID:19563349|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20522430|PMID:21248271|PMID:21868258|PMID:21906962|PMID:22071555|PMID:22092154|PMID:22409937|PMID:22848613|PMID:23195492|PMID:23708187|PMID:23821540|PMID:23895530|PMID:23934111|PMID:24412860|PMID:24502503|PMID:24656210|PMID:24776920|PMID:25401298|PMID:25525159|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:26990884|PMID:26993267|PMID:27465585|PMID:28148630|PMID:28202706|PMID:28492532|PMID:28794249|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29655203|PMID:29745119|PMID:29852413|PMID:30034362|PMID:30321769|PMID:30619928|PMID:31755124|PMID:31791873|PMID:31864146|PMID:32090326|PMID:32581362|PMID:33278787|PMID:35074891|PMID:36158059|PMID:36684540|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:735777 D RGD:7240710 20180228 OMIM 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:735777 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15263074|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17000989|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18680191|PMID:18804930|PMID:1893009|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301494|PMID:20431604|PMID:20452746|PMID:20491869|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20831750|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21753172|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23773995|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:24776920|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25741869|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28864458|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30142967|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30735520|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31102827|PMID:31139143|PMID:31164858|PMID:31439038|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32488064|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:35074891|PMID:35087721|PMID:35663268|PMID:36229510|PMID:9536098|PMID:9573403 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0080422 Dravet syndrome ISO RGD:735777 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15263074|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17000989|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18680191|PMID:18755274|PMID:18804930|PMID:1893009|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301494|PMID:20431604|PMID:20452746|PMID:20491869|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20831750|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21753172|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23773995|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24412860|PMID:24502503|PMID:24656210|PMID:24679980|PMID:24776920|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25741869|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28837158|PMID:28864458|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:29981888|PMID:30034362|PMID:30142967|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30735520|PMID:30868114|PMID:30921204|PMID:30945278|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31102827|PMID:31139143|PMID:31164858|PMID:31439038|PMID:31487502|PMID:31618474|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32461654|PMID:32488064|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32593896|PMID:32613771|PMID:32702657|PMID:32845893|PMID:33067208|PMID:33084218|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34163418|PMID:34268891|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:35074891|PMID:35087721|PMID:35571373|PMID:35663268|PMID:35886038|PMID:36158059|PMID:36229510|PMID:36684540|PMID:9536098|PMID:9573403 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:11940708|PMID:12083760|PMID:16458823|PMID:20522430|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735777 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:11940708|PMID:12083760|PMID:16458823|PMID:17347258|PMID:18930999|PMID:20522430|PMID:21248271|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:30619928|PMID:31864146|PMID:32056211|PMID:32090326|PMID:35571373 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868|PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111183 familial hemiplegic migraine 3 ISO RGD:735777 D RGD:7240710 20180130 OMIM 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111183 familial hemiplegic migraine 3 ISO RGD:735777 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:11254444|PMID:11254445|PMID:11359211|PMID:11940708|PMID:12083760|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:14504318|PMID:14738421|PMID:15277634|PMID:16054936|PMID:16199547|PMID:16458823|PMID:17054684|PMID:17054685|PMID:17347258|PMID:17561957|PMID:17576681|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19332696|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19589774|PMID:19809937|PMID:20431604|PMID:20522430|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21396429|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22150645|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24168886|PMID:24328833|PMID:24337656|PMID:24412860|PMID:24464349|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25401298|PMID:25525159|PMID:25669891|PMID:25741868|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26232052|PMID:26236192|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:27113213|PMID:27231140|PMID:27236449|PMID:27465585|PMID:27864847|PMID:28079314|PMID:28148630|PMID:28202706|PMID:28488083|PMID:28492532|PMID:28544625|PMID:28794249|PMID:28837158|PMID:29100083|PMID:29141279|PMID:29145747|PMID:29186148|PMID:29190809|PMID:29358611|PMID:29739726|PMID:29745119|PMID:29852413|PMID:29981888|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30619928|PMID:30868114|PMID:31031587|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32090326|PMID:32581362|PMID:32613771|PMID:33067208|PMID:33084218|PMID:33278787|PMID:34163418|PMID:34268891|PMID:34489640|PMID:34645491|PMID:35074891|PMID:35663268|PMID:36158059|PMID:36684540|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111294 generalized epilepsy with febrile seizures plus 2 ISO RGD:735777 D RGD:7240710 20180130 OMIM 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111294 generalized epilepsy with febrile seizures plus 2 ISO RGD:735777 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 2 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12821740|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16326807|PMID:16458823|PMID:16505326|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18755274|PMID:18804930|PMID:1893009|PMID:1893099|PMID:18930999|PMID:19236456|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20194124|PMID:20301494|PMID:20431604|PMID:20522430|PMID:20550552|PMID:20600615|PMID:20729507|PMID:20831750|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24136861|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24412860|PMID:24464349|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25525159|PMID:25576396|PMID:25741868|PMID:25754450|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28079314|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28735751|PMID:28794249|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29186148|PMID:29190809|PMID:29358611|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30034362|PMID:30142967|PMID:30321769|PMID:30525188|PMID:30558019|PMID:30619928|PMID:30659983|PMID:31031587|PMID:31164858|PMID:31618474|PMID:31755124|PMID:31765958|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32581362|PMID:33278787|PMID:33391346|PMID:33895391|PMID:34489640|PMID:34645491|PMID:35074891|PMID:35082603|PMID:35571373|PMID:35663268|PMID:36158059|PMID:36684540|PMID:9126059|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111302 generalized epilepsy with febrile seizures plus 1 ISO RGD:735777 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:10521305|PMID:10742094|PMID:11254444|PMID:11254445|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:12086636|PMID:12566275|PMID:12576172|PMID:12919402|PMID:14672992|PMID:14702334|PMID:16075041|PMID:16525050|PMID:17347258|PMID:17507202|PMID:17561957|PMID:18076640|PMID:18413471|PMID:18804930|PMID:18930999|PMID:19464195|PMID:20117752|PMID:20522430|PMID:20550552|PMID:20600615|PMID:20729507|PMID:21719429|PMID:21864321|PMID:22525008|PMID:22780858|PMID:23195492|PMID:23945787|PMID:24277604|PMID:25348405|PMID:25576396|PMID:25741868|PMID:26096185|PMID:26990884|PMID:27066544|PMID:28084635|PMID:28192756|PMID:28202706|PMID:28492532|PMID:29141311|PMID:30619928|PMID:9126059 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0111307 familial febrile seizures 1 ISO RGD:735777 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: FEB1 PMID:17347258|PMID:18930999|PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:1868258|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26252084|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31069529|PMID:31302675|PMID:31439038|PMID:31487502|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:9126059|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28492532|PMID:28525652|PMID:28708303|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:15805193|PMID:15880351|PMID:16199547|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19289736|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20110217|PMID:20117752|PMID:20307669|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24876116|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25576396|PMID:25590135|PMID:25741868|PMID:25754450|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26763045|PMID:26845707|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518218|PMID:28525652|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28842445|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30805006|PMID:30868114|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31487502|PMID:31730442|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:33391346|PMID:9126059|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11524484|PMID:11567038|PMID:11756608|PMID:11823106|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12535936|PMID:12566275|PMID:12576172|PMID:12610651|PMID:12754708|PMID:12773292|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15133511|PMID:15277629|PMID:15508916|PMID:15694566|PMID:15805193|PMID:15880351|PMID:16075041|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16525050|PMID:16541393|PMID:16713913|PMID:16713920|PMID:16865694|PMID:17001291|PMID:17054684|PMID:17054685|PMID:17129991|PMID:17166794|PMID:17347258|PMID:17436242|PMID:17470132|PMID:17507202|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17679682|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18251839|PMID:18327258|PMID:18330841|PMID:18413471|PMID:18414213|PMID:18479393|PMID:18554359|PMID:18566737|PMID:18621678|PMID:18632234|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19220312|PMID:19236456|PMID:19289736|PMID:19303743|PMID:19304393|PMID:19332696|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19400878|PMID:19464195|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19763152|PMID:19763161|PMID:19782004|PMID:19809937|PMID:19949041|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20301562|PMID:20307669|PMID:20358599|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21068128|PMID:21248271|PMID:21258341|PMID:21371021|PMID:21396429|PMID:21416599|PMID:21425109|PMID:21426328|PMID:21488303|PMID:21555645|PMID:21692795|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21844054|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22028529|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22188362|PMID:22292851|PMID:22406018|PMID:22409937|PMID:22495306|PMID:22525008|PMID:22550089|PMID:22591328|PMID:22612257|PMID:22780858|PMID:22781031|PMID:22848613|PMID:22944210|PMID:22992668|PMID:23016767|PMID:23020937|PMID:23032131|PMID:23086956|PMID:23103419|PMID:23184456|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23485646|PMID:23527921|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:23945787|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24277604|PMID:24328833|PMID:24337656|PMID:24412860|PMID:24472396|PMID:24502503|PMID:24623842|PMID:24650168|PMID:24656210|PMID:24679980|PMID:24848745|PMID:24876116|PMID:25108116|PMID:25206388|PMID:25243660|PMID:25253744|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25439579|PMID:25459968|PMID:25459969|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25569746|PMID:25576396|PMID:25590135|PMID:25640679|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25795284|PMID:25818041|PMID:25885068|PMID:25986186|PMID:25995458|PMID:26068938|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26236192|PMID:26311622|PMID:26314341|PMID:26339958|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26555147|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26716362|PMID:26763045|PMID:26845707|PMID:26863999|PMID:26934580|PMID:26990884|PMID:26993267|PMID:27029629|PMID:27066544|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27458797|PMID:27465585|PMID:27491411|PMID:27541642|PMID:27652284|PMID:27734276|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28166811|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28356460|PMID:28379373|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28525652|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28735751|PMID:28794249|PMID:28837158 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735777 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28842445|PMID:28864458|PMID:28951233|PMID:29056246|PMID:29068549|PMID:29095814|PMID:29100083|PMID:29141279|PMID:29141311|PMID:29142202|PMID:29145747|PMID:29186148|PMID:29188601|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29573403|PMID:29655203|PMID:29720203|PMID:29739726|PMID:29745119|PMID:29760947|PMID:29778030|PMID:29852413|PMID:29930392|PMID:29948376|PMID:29981888|PMID:30011152|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30182801|PMID:30185235|PMID:30258939|PMID:30321769|PMID:30368457|PMID:30498473|PMID:30525188|PMID:30558019|PMID:30564305|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30795902|PMID:30805006|PMID:30868114|PMID:30921204|PMID:30945278|PMID:30977726|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31175295|PMID:31273778|PMID:31302675|PMID:31439038|PMID:31440721|PMID:31487502|PMID:31618474|PMID:31618753|PMID:31677916|PMID:31720899|PMID:31730442|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31782251|PMID:31791873|PMID:31864146|PMID:31875159|PMID:31880072|PMID:32031527|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32276107|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581296|PMID:32581362|PMID:32593896|PMID:32613771|PMID:32702657|PMID:32845893|PMID:33067208|PMID:33084218|PMID:33278787|PMID:33391346|PMID:33674996|PMID:33895391|PMID:34015165|PMID:34055682|PMID:34163418|PMID:34268891|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:34645491|PMID:35074891|PMID:35087721|PMID:35571373|PMID:35663268|PMID:36158059|PMID:36636894|PMID:36684540|PMID:9126059|PMID:9536098|PMID:9573403 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:0112212 developmental and epileptic encephalopathy 76 ISO RGD:735777 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, EPILEPTIC ENCEPHALOPATHY, CEREBRAL ATROPHY, AND ABNORMAL MYELINATION PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:1059 intellectual disability ISO RGD:735777 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities PMID:11254445|PMID:11359211|PMID:12610651|PMID:12821740|PMID:14738421|PMID:17054684|PMID:17347258|PMID:17561957|PMID:18930999|PMID:19200853|PMID:19522081|PMID:19585586|PMID:20879882|PMID:21868258|PMID:22150645|PMID:22612257|PMID:22848613|PMID:23195492|PMID:23934111|PMID:24168886|PMID:24502503|PMID:25741868|PMID:26096185|PMID:26990884|PMID:28084635|PMID:28492532|PMID:29100083|PMID:29186148|PMID:29358611|PMID:29655203|PMID:29948376|PMID:32090326|PMID:32538476 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:10907 microcephaly ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:14672992|PMID:17347258|PMID:25741868|PMID:28492532|PMID:32581362 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:12712 nephronophthisis ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:12849 autistic disorder ISO RGD:735777 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:11254445|PMID:12566275|PMID:12610651|PMID:14672992|PMID:16199547|PMID:17347258|PMID:18930999|PMID:19200853|PMID:19522081|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23195492|PMID:23934111|PMID:25741868|PMID:26990884|PMID:28148630|PMID:28492532|PMID:29190809|PMID:29358611|PMID:32581362 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:1826 epilepsy ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:11254444|PMID:11254445|PMID:12083760|PMID:12566275|PMID:12610651|PMID:14504318|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16525050|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17561957|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20522430|PMID:20550552|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21864321|PMID:21868258|PMID:22011963|PMID:22071555|PMID:22409937|PMID:22550089|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23808377|PMID:23895530|PMID:23934111|PMID:24168886|PMID:24277604|PMID:24337656|PMID:24464349|PMID:24656210|PMID:24679980|PMID:25401298|PMID:25576396|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:26845707|PMID:26990884|PMID:27236449|PMID:27465585|PMID:27781031|PMID:28012175|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28492532|PMID:28794249|PMID:29141311|PMID:29186148|PMID:29358611|PMID:29852413|PMID:30735520|PMID:31302675|PMID:31765958|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32090326|PMID:32581362 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:1826 epilepsy ISO RGD:735777 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure Disorders PMID:11254444|PMID:11254445|PMID:12083760|PMID:12566275|PMID:12610651|PMID:14504318|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16525050|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17561957|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19522081|PMID:19585586|PMID:19589774|PMID:20431604|PMID:20522430|PMID:20550552|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21864321|PMID:21868258|PMID:22011963|PMID:22071555|PMID:22409937|PMID:22550089|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23808377|PMID:23895530|PMID:23934111|PMID:24168886|PMID:24277604|PMID:24337656|PMID:24464349|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25401298|PMID:25576396|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:26845707|PMID:26990884|PMID:27236449|PMID:27465585|PMID:27781031|PMID:28012175|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28492532|PMID:28794249|PMID:29141311|PMID:29186148|PMID:29190809|PMID:29358611|PMID:29852413|PMID:30735520|PMID:31302675|PMID:31765958|PMID:31782251|PMID:31791873|PMID:31864146|PMID:32090326|PMID:32581362|PMID:34645491 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:2234 focal epilepsy ISO RGD:735777 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness | ClinVar Annotator: match by term: Focal-onset seizure PMID:12566275|PMID:14672992|PMID:16199547|PMID:17347258|PMID:17903680|PMID:18930999|PMID:19585586|PMID:19586930|PMID:20522430|PMID:21248271|PMID:22071555|PMID:22156295|PMID:22409937|PMID:23527921|PMID:23917401|PMID:23934111|PMID:24328833|PMID:25741868|PMID:26188943|PMID:26467025|PMID:27465585|PMID:27781031|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32238909|PMID:32581362 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25525159|PMID:25590135|PMID:25741868|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28084635|PMID:28148630|PMID:28150151|PMID:28192756|PMID:28202706|PMID:28488083|PMID:28492532|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29358611|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:31031587|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:32238909|PMID:32538476|PMID:32573669|PMID:32581362|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26467025|PMID:26544041|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34379890|PMID:34489640|PMID:34539730|PMID:9536098|PMID:9573403 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24412860|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:30945278|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32238909|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32702657|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34268891|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:35074891|PMID:36684540|PMID:9536098|PMID:9573403 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:735777 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:10486327|PMID:10521305|PMID:10742094|PMID:11118488|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12754708|PMID:12821740|PMID:12919402|PMID:14504318|PMID:14672992|PMID:14702334|PMID:14738421|PMID:15277629|PMID:15508916|PMID:16199547|PMID:16210358|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17054685|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17561957|PMID:17576681|PMID:17903680|PMID:18021921|PMID:18031552|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18566737|PMID:18755274|PMID:18804930|PMID:1893099|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563349|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:19809937|PMID:20100831|PMID:20110217|PMID:20117752|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20562086|PMID:20600615|PMID:20729507|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21425109|PMID:21555645|PMID:21703448|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22050978|PMID:22071555|PMID:22092154|PMID:22140375|PMID:22147323|PMID:22150645|PMID:22151702|PMID:22156295|PMID:22409937|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:22944210|PMID:23086956|PMID:23195492|PMID:23398611|PMID:23527921|PMID:23662938|PMID:23708187|PMID:23762420|PMID:23808377|PMID:23821540|PMID:23884151|PMID:23895530|PMID:23917401|PMID:23934111|PMID:24066114|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24328833|PMID:24412860|PMID:24502503|PMID:24656210|PMID:24679980|PMID:25206388|PMID:25243660|PMID:25326635|PMID:25348405|PMID:25378155|PMID:25401298|PMID:25459968|PMID:25459969|PMID:25525159|PMID:25590135|PMID:25669891|PMID:25741868|PMID:25754450|PMID:25818041|PMID:25885068|PMID:25986186|PMID:26096185|PMID:26169758|PMID:26188943|PMID:26232052|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26699486|PMID:26845707|PMID:26990884|PMID:26993267|PMID:27113213|PMID:27197941|PMID:27231140|PMID:27236449|PMID:27267376|PMID:27465585|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28074849|PMID:28079314|PMID:28084635|PMID:28102150|PMID:28148630|PMID:28150151|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28544625|PMID:28664031|PMID:28708303|PMID:28794249|PMID:28837158|PMID:28864458|PMID:29056246|PMID:29100083|PMID:29141279|PMID:29142202|PMID:29186148|PMID:29190809|PMID:29314583|PMID:29358611|PMID:29408779|PMID:29460957|PMID:29655203|PMID:29745119|PMID:29760947|PMID:29852413|PMID:29930392|PMID:29948376|PMID:29981888|PMID:30034362|PMID:30146492|PMID:30182498|PMID:30311386|PMID:30321769|PMID:30368457|PMID:30525188|PMID:30577886|PMID:30619928|PMID:30659983|PMID:30868114|PMID:30921204|PMID:30945278|PMID:31001185|PMID:31009440|PMID:31031587|PMID:31069529|PMID:31164858|PMID:31487502|PMID:31618474|PMID:31755124|PMID:31765958|PMID:31780880|PMID:31791873|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32090326|PMID:32238909|PMID:32461654|PMID:32538476|PMID:32573669|PMID:32581362|PMID:32593896|PMID:32613771|PMID:32702657|PMID:32845893|PMID:33067208|PMID:33084218|PMID:33278787|PMID:33674996|PMID:34015165|PMID:34163418|PMID:34268891|PMID:34338318|PMID:34379890|PMID:34489640|PMID:34539730|PMID:35074891|PMID:35571373|PMID:35663268|PMID:36158059|PMID:36684540|PMID:9536098|PMID:9573403 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:11254445|PMID:12610651|PMID:18021921|PMID:19200853|PMID:19522081|PMID:21396429|PMID:22550089|PMID:22780858|PMID:23195492|PMID:23398611|PMID:24679980|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611|PMID:31765958 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:480 movement disease ISO RGD:735777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12907273 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:630 genetic disease ISO RGD:735777 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521305|PMID:10742094|PMID:11254444|PMID:11254445|PMID:11359211|PMID:11567038|PMID:11940708|PMID:12083760|PMID:12086636|PMID:12566275|PMID:12610651|PMID:12821740|PMID:14504318|PMID:14702334|PMID:14738421|PMID:15087100|PMID:15277629|PMID:15508916|PMID:15880351|PMID:16199547|PMID:16458823|PMID:16541393|PMID:16713913|PMID:16713920|PMID:17054684|PMID:17166794|PMID:17347258|PMID:17537961|PMID:17576681|PMID:18021921|PMID:18056581|PMID:18076640|PMID:18413471|PMID:18414213|PMID:18554359|PMID:18755274|PMID:18930999|PMID:19200853|PMID:19236456|PMID:19339291|PMID:19350499|PMID:19359143|PMID:19522081|PMID:19563458|PMID:19585586|PMID:19586930|PMID:19589774|PMID:19673951|PMID:19782004|PMID:20196795|PMID:20431604|PMID:20452746|PMID:20522430|PMID:20550552|PMID:20729507|PMID:20738378|PMID:20879882|PMID:21248271|PMID:21371021|PMID:21396429|PMID:21713554|PMID:21719429|PMID:21864321|PMID:21868258|PMID:21906962|PMID:22011963|PMID:22092154|PMID:22150645|PMID:22151702|PMID:22550089|PMID:22612257|PMID:22780858|PMID:22848613|PMID:23195492|PMID:23398550|PMID:23398611|PMID:23762420|PMID:23808377|PMID:23884151|PMID:23934111|PMID:24066114|PMID:24097157|PMID:24136861|PMID:24155976|PMID:24168886|PMID:24337656|PMID:24412860|PMID:24472396|PMID:24502503|PMID:24679980|PMID:24848745|PMID:25459968|PMID:25525159|PMID:25741868|PMID:25754450|PMID:25795284|PMID:26096185|PMID:26232052|PMID:26394714|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26680202|PMID:26699486|PMID:26845707|PMID:26934580|PMID:26990884|PMID:27029629|PMID:27231140|PMID:27236449|PMID:27781031|PMID:27864847|PMID:27959697|PMID:28012175|PMID:28079314|PMID:28150151|PMID:28183995|PMID:28186331|PMID:28192756|PMID:28202706|PMID:28387369|PMID:28469861|PMID:28488083|PMID:28492532|PMID:28518168|PMID:28518218|PMID:28664031|PMID:28735751|PMID:28842445|PMID:28951233|PMID:29100083|PMID:29141279|PMID:29186148|PMID:29358611|PMID:29408779|PMID:29429461|PMID:29601086|PMID:29655203|PMID:29739726|PMID:29745119|PMID:29852413|PMID:29948376|PMID:30182498|PMID:31009440|PMID:31164858|PMID:31302675|PMID:31755124|PMID:31765958|PMID:31864146|PMID:31875159|PMID:32056211|PMID:32090326|PMID:32461654|PMID:32613771|PMID:33278787|PMID:33391346|PMID:34268891|PMID:35074891|PMID:35571373|PMID:36684540|PMID:9536098 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:735777 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:11254445|PMID:18021921|PMID:21396429|PMID:22550089|PMID:22780858|PMID:23398611|PMID:24679980|PMID:25741868|PMID:26990884|PMID:28492532|PMID:29358611|PMID:31765958 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9000343 Vision Disorders ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9001716 Hip Contracture ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hip contracture PMID:17561957|PMID:30311386 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized epilepsy PMID:11359211|PMID:14504318|PMID:17054684|PMID:17347258|PMID:18930999|PMID:19563458|PMID:20452746|PMID:21719429|PMID:22848613|PMID:25741868|PMID:26096185|PMID:26993267|PMID:28492532|PMID:32581362 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9002914 Familial Sudden Death ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9003133 Hypertelorism ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:19763161|PMID:25741868|PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: myoclonic epilepsy PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:735777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 64 PMID:25741868|PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9006534 Nervous System Malformations ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9006942 Familial Febrile Seizures 3A ISO RGD:735777 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 3a PMID:15805193|PMID:16326807|PMID:17001291|PMID:17436242|PMID:19289736|PMID:19949041|PMID:22188362|PMID:22292851|PMID:22591328|PMID:22992668|PMID:25741868|PMID:26314341|PMID:26555147|PMID:28492532 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532|PMID:29601086 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:735777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9007956 Febrile Seizures susceptibility ISO RGD:69364 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.E539A,p.N1417H(rat) PMID:20410126|REF_RGD_ID:12792282 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:735777 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:19563458|PMID:20452746|PMID:20522430|PMID:22071555|PMID:22409937|PMID:22848613|PMID:23895530|PMID:23934111|PMID:24656210|PMID:25401298|PMID:25741868|PMID:28012175|PMID:28148630|PMID:28492532|PMID:28794249|PMID:29190809|PMID:31791873|PMID:32581362 8796089 Scn1a sodium voltage-gated channel alpha subunit 1 gene DOID:9009021 Plagiocephaly ISO RGD:735777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:18930999|PMID:19563458|PMID:20452746|PMID:22848613|PMID:25741868|PMID:28492532 8796131 Med7 mediator complex subunit 7 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1321085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 8796131 Med7 mediator complex subunit 7 gene DOID:630 genetic disease ISO RGD:1321085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796143 Klhl25 kelch like family member 25 gene DOID:2717 Bloom syndrome ISO RGD:1605054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8796143 Klhl25 kelch like family member 25 gene DOID:630 genetic disease ISO RGD:1605054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796143 Klhl25 kelch like family member 25 gene DOID:9256 colorectal cancer ISO RGD:1605054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8796179 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1602115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065|PMID:25741868|PMID:27129381|PMID:28328138 8796179 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:1602115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 PMID:25741868 8796179 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602115 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8796179 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:630 genetic disease ISO RGD:1602115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796179 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8796179 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1602115 D RGD:7240710 20180130 OMIM 8796179 Ptrh2 peptidyl-tRNA hydrolase 2 gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1602115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 PMID:25558065|PMID:25741868|PMID:27129381|PMID:28328138|PMID:31057140|PMID:33092935 8796185 Mllt10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:1909 melanoma ISO RGD:1322026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8796185 Mllt10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:3565 meningioma ISO RGD:1322026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804547 8796185 Mllt10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:4450 renal cell carcinoma ISO RGD:1322026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8796185 Mllt10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:630 genetic disease ISO RGD:1322026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796185 Mllt10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:8864 acute monocytic leukemia ISO RGD:1322026 D RGD:9068941 20200609 RGD PMID:7662954|REF_RGD_ID:1598771 8796185 Mllt10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:9119 acute myeloid leukemia ISO RGD:1322026 D RGD:7240710 20190315 OMIM 8796185 Mllt10 MLLT10 histone lysine methyltransferase DOT1L cofactor gene DOID:9119 acute myeloid leukemia ISO RGD:1322026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732660 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:29940770|REF_RGD_ID:14985218 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:10283 prostate cancer ISO RGD:732660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:10652 Alzheimer's disease ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:12217 Lewy body dementia ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:12932 endomyocardial fibrosis ISO RGD:732660 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:30450786|PMID:36462176 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:14330 Parkinson's disease ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:1520 colon carcinoma ISO RGD:732660 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:29940770|REF_RGD_ID:14985218 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:2154 nephroblastoma ISO RGD:732660 D RGD:9068941 20200609 RGD PMID:9070652|REF_RGD_ID:7242956 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:2661 myoepithelioma ISO RGD:732660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2871 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, astrocyte PMID:18441505|REF_RGD_ID:2311519 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:3459 breast carcinoma ISO RGD:732660 D RGD:9068941 20200609 RGD protein:increased expression:serum,urine: PMID:29940770|REF_RGD_ID:14985218 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:3910 lung adenocarcinoma ISO RGD:2871 D RGD:9068941 20200609 RGD mRNA:deletions: :c.3698_4902del, c.3366_4902del, c.3817_4697del (rat) PMID:12503077|REF_RGD_ID:1298968 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:732660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:630 genetic disease ISO RGD:732660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:7240710 20180130 OMIM 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:732660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:25741868|PMID:9722161 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:liver PMID:18322954|REF_RGD_ID:14985219 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma no_association ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity,mutations:liver: PMID:10347113|REF_RGD_ID:14985220 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732660 D RGD:9068941 20200609 RGD PMID:30720132|REF_RGD_ID:14985221 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:850 lung disease ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620343|PMID:21433279 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:8719 in situ carcinoma ISO RGD:732660 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:loss of heterozygosity, missense mutations (human) PMID:8649861|REF_RGD_ID:2311631 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:8791 breast carcinoma in situ ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:8649861|REF_RGD_ID:2311631 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2871 D RGD:9068941 20200609 RGD PMID:15057872|PMID:9652747|REF_RGD_ID:2311623|REF_RGD_ID:2311630 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732660 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36462176 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:2871 D RGD:9068941 20200609 RGD mRNA:increased expresssion:fetus: PMID:1408464|REF_RGD_ID:14985247 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732661 D RGD:9068941 20200609 RGD protein:increased expression:oviduct PMID:18676006|REF_RGD_ID:2311502 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:9006487 Reoviridae Infections resistance ISO RGD:2871 D RGD:9068941 20200609 RGD PMID:15333144|REF_RGD_ID:2311622 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:732660 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36462176 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:9007039 Ventricular Dysfunction ISO RGD:732660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30450786 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:insertion, deletion:3' utr (human) PMID:16868148|REF_RGD_ID:2311514 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:9538 multiple myeloma ISO RGD:732660 D RGD:9068941 20200609 RGD protein:increased expression:serum,urine: PMID:29940770|REF_RGD_ID:14985218 8796210 Igf2r insulin like growth factor 2 receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:732660 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:15531531|REF_RGD_ID:2311611 8796263 Sc5d sterol-C5-desaturase gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8796263 Sc5d sterol-C5-desaturase gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8796263 Sc5d sterol-C5-desaturase gene DOID:0080690 RASopathy ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8796263 Sc5d sterol-C5-desaturase gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8796263 Sc5d sterol-C5-desaturase gene DOID:0111971 immunodeficiency 18 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8796263 Sc5d sterol-C5-desaturase gene DOID:0111972 immunodeficiency 19 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8796263 Sc5d sterol-C5-desaturase gene DOID:0111973 immunodeficiency 17 ISO RGD:1351356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8796263 Sc5d sterol-C5-desaturase gene DOID:1059 intellectual disability ISO RGD:1351356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189593 8796263 Sc5d sterol-C5-desaturase gene DOID:409 liver disease ISO RGD:1351356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189593 8796263 Sc5d sterol-C5-desaturase gene DOID:5419 schizophrenia ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8796263 Sc5d sterol-C5-desaturase gene DOID:630 genetic disease ISO RGD:1351356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8796263 Sc5d sterol-C5-desaturase gene DOID:9001858 Lathosterolosis ISO RGD:1351356 D RGD:7240710 20190315 OMIM 8796263 Sc5d sterol-C5-desaturase gene DOID:9001858 Lathosterolosis ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lathosterolosis PMID:12189593|PMID:12812989|PMID:24142275|PMID:25741868|PMID:28492532|PMID:30097991 8796263 Sc5d sterol-C5-desaturase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8796263 Sc5d sterol-C5-desaturase gene DOID:9007661 Dwarfism ISO RGD:1351356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8796283 Fhip2b FHF complex subunit HOOK interacting protein 2B gene DOID:630 genetic disease ISO RGD:1318892 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796283 Fhip2b FHF complex subunit HOOK interacting protein 2B gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1318892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8796332 Trnau1ap tRNA selenocysteine 1 associated protein 1 gene DOID:630 genetic disease ISO RGD:733380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796358 Tm4sf18 transmembrane 4 L six family member 18 gene DOID:0050579 glycogen storage disease XV ISO RGD:1605011 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8796358 Tm4sf18 transmembrane 4 L six family member 18 gene DOID:630 genetic disease ISO RGD:1605011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796371 Shisa4 shisa family member 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1323817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8796371 Shisa4 shisa family member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1323817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8796371 Shisa4 shisa family member 4 gene DOID:630 genetic disease ISO RGD:1323817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796371 Shisa4 shisa family member 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1323817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8796371 Shisa4 shisa family member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8796380 Klhdc7a kelch domain containing 7A gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606164 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8796380 Klhdc7a kelch domain containing 7A gene DOID:630 genetic disease ISO RGD:1606164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796380 Klhdc7a kelch domain containing 7A gene DOID:9008939 Breast Neoplasms ISO RGD:1606164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8796399 Top3a DNA topoisomerase III alpha gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1319604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8796399 Top3a DNA topoisomerase III alpha gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1319604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8796399 Top3a DNA topoisomerase III alpha gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1319604 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8796399 Top3a DNA topoisomerase III alpha gene DOID:0110980 Joubert syndrome 1 ISO RGD:1319604 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8796399 Top3a DNA topoisomerase III alpha gene DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1319604 D RGD:7240710 20190821 OMIM 8796399 Top3a DNA topoisomerase III alpha gene DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1319604 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 PMID:24509834|PMID:25741868|PMID:28492532|PMID:29290614|PMID:37013609 8796399 Top3a DNA topoisomerase III alpha gene DOID:10003 sensorineural hearing loss ISO RGD:1319604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8796399 Top3a DNA topoisomerase III alpha gene DOID:12849 autistic disorder ISO RGD:1319604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8796399 Top3a DNA topoisomerase III alpha gene DOID:630 genetic disease ISO RGD:1319604 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24509834|PMID:25741868|PMID:28492532|PMID:30057030|PMID:37013609 8796399 Top3a DNA topoisomerase III alpha gene DOID:700 mitochondrial metabolism disease ISO RGD:1319604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:29290614 8796399 Top3a DNA topoisomerase III alpha gene DOID:9009217 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 ISO RGD:1319604 D RGD:7240710 20190315 OMIM 8796399 Top3a DNA topoisomerase III alpha gene DOID:9009217 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 ISO RGD:1319604 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 PMID:25741868|PMID:28492532|PMID:30057030 8796425 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8796425 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:0060898 Parkinson's disease 20 ISO RGD:1318653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8796425 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1318653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8796425 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:1059 intellectual disability ISO RGD:1318653 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8796425 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:14250 Down syndrome ISO RGD:1318653 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum (human) PMID:9328467|REF_RGD_ID:5143983 8796425 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:3910 lung adenocarcinoma ISO RGD:1318653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8796425 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:630 genetic disease ISO RGD:1318653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796425 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:7148 rheumatoid arthritis ISO RGD:1318653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 8796425 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:9005698 ZTTK Syndrome ISO RGD:1318653 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8796425 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:9006205 Animal Disease Models ISO RGD:1318653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8796425 Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1318653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8796460 Far1 fatty acyl-CoA reductase 1 gene DOID:0081243 rhizomelic chondrodysplasia punctate type 4 ISO RGD:1315381 D RGD:7240710 20200603 OMIM 8796460 Far1 fatty acyl-CoA reductase 1 gene DOID:0081243 rhizomelic chondrodysplasia punctate type 4 ISO RGD:1315381 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Peroxisomal fatty acyl-coa reductase 1 disorder PMID:25439727|PMID:25741868|PMID:28492532 8796460 Far1 fatty acyl-CoA reductase 1 gene DOID:1059 intellectual disability ISO RGD:1315381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8796460 Far1 fatty acyl-CoA reductase 1 gene DOID:630 genetic disease ISO RGD:1315381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8796460 Far1 fatty acyl-CoA reductase 1 gene DOID:9006244 CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY ISO RGD:1315381 D RGD:7240710 20210616 OMIM 8796460 Far1 fatty acyl-CoA reductase 1 gene DOID:9006244 CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY ISO RGD:1315381 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:33239752 8796493 Ston1 stonin 1 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1602494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 8796493 Ston1 stonin 1 gene DOID:2661 myoepithelioma ISO RGD:1602494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8796493 Ston1 stonin 1 gene DOID:630 genetic disease ISO RGD:1602494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:735648 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10598665|PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18375819|PMID:18390968|PMID:18794081|PMID:18948947|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:2278970|PMID:23325582|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23708912|PMID:2407301|PMID:24284627|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:29692343|PMID:2989702|PMID:3122217|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:21586752|REF_RGD_ID:11535055 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0050902 medulloblastoma ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:16291983|PMID:17332249|PMID:17517660|PMID:18375819|PMID:18390968|PMID:18633438|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:21079152|PMID:22962325|PMID:23414587|PMID:23431193|PMID:2407301|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:2989702|PMID:3102434|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome ISO RGD:735648 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:2278970|PMID:22962325|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23614898|PMID:23708912|PMID:24033266|PMID:2407301|PMID:24284627|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:29692343|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:735648 D RGD:9068941 20200609 RGD PMID:23708912|REF_RGD_ID:11535060 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0060058 lymphoma ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9205081 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:16291983|PMID:17332249|PMID:17517660|PMID:18375819|PMID:18390968|PMID:18633438|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:21079152|PMID:22962325|PMID:23414587|PMID:23431193|PMID:2407301|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:2989702|PMID:3102434|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0060578 Noonan syndrome 1 ISO RGD:735648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:17671181|PMID:19966803|PMID:21263000|PMID:22220252|PMID:22499344|PMID:22855653|PMID:23325582|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25741868|PMID:26467218|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0060584 Noonan syndrome 6 ISO RGD:735648 D RGD:7240710 20180130 OMIM 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0060584 Noonan syndrome 6 ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Noonan syndrome 6 PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17332249|PMID:17517660|PMID:17671181|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21263000|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22761467|PMID:2278970|PMID:22855653|PMID:22962325|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:2407301|PMID:24284627|PMID:24370118|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:2989702|PMID:30417923|PMID:3102434|PMID:31219622|PMID:3122217|PMID:32888943|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0070004 myeloid neoplasm disease_progression ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:21586752|REF_RGD_ID:11535055 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0080188 chronic myelomonocytic leukemia onset ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:26082490|REF_RGD_ID:11535058 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10598665|PMID:10821536|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17576681|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:2278970|PMID:22855653|PMID:23325582|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:3122217|PMID:8120410|PMID:9536098 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:735648 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10598665|PMID:10821536|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17332249|PMID:17384584|PMID:17576681|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:2278970|PMID:22855653|PMID:23325582|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26467218|PMID:26619011|PMID:26661077|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:29752777|PMID:31219622|PMID:3122217|PMID:32620824|PMID:8120410|PMID:9536098 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:16291983|PMID:17332249|PMID:17517660|PMID:18375819|PMID:18390968|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:21079152|PMID:23414587|PMID:23431193|PMID:2407301|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:2989702|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:735648 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17699718|PMID:18390968|PMID:18948947|PMID:19075190|PMID:19657110|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22407852|PMID:2278970|PMID:23134356|PMID:23334668|PMID:23414587|PMID:23515407|PMID:23614898|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28594414|PMID:30417923|PMID:3122217|PMID:32888943|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:735648 D RGD:7240710 20180130 OMIM 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17332249|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19775298|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21305640|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:2278970|PMID:23414587|PMID:23431193|PMID:23515407|PMID:2407301|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:2989702|PMID:3122217|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:735648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:735648 D RGD:7240710 20180130 OMIM 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17332249|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24284627|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28098151|PMID:28492532|PMID:28594414|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:735648 D RGD:7240710 20180130 OMIM 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3102434|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:735648 D RGD:7240710 20180130 OMIM 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:735648 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:10283 prostate cancer disease_progression ISO RGD:735648 D RGD:9068941 20200609 RGD PMID:18334737|REF_RGD_ID:2314837 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:1240 leukemia onset ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:27109513|REF_RGD_ID:11535059 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:14566 disease of cellular proliferation ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:16291983|PMID:18390968|PMID:19657110|PMID:20130576|PMID:20179705|PMID:23414587|PMID:25157968|PMID:26619011|PMID:2674680|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:1520 colon carcinoma ISO RGD:735648 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:16291983|PMID:18390968|PMID:18633438|PMID:20130576|PMID:20179705|PMID:22962325|PMID:23414587|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3102434|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:735648 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24806883|PMID:24918823|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:1984 rectal benign neoplasm ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3102434 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:2234 focal epilepsy ISO RGD:735648 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:29493581 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:2355 anemia ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17332249|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28492532|PMID:28780248|PMID:2989702|PMID:3102434|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:735648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:16273091|PMID:16291983|PMID:16518851|PMID:17384584|PMID:17671181|PMID:17699718|PMID:18390968|PMID:18794081|PMID:18952898|PMID:19047918|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22220252|PMID:22855653|PMID:23325582|PMID:23414587|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622|PMID:32581362|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:735648 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10598665|PMID:12460918|PMID:14982869|PMID:15046639|PMID:15831708|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:17384584|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18390968|PMID:18794081|PMID:18952898|PMID:19047918|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21263000|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22220252|PMID:22855653|PMID:23325582|PMID:23414587|PMID:23708912|PMID:24033266|PMID:24806883|PMID:25157968|PMID:25741868|PMID:26467218|PMID:26619011|PMID:2674680|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:29692343|PMID:29752777|PMID:31219622|PMID:32581362|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:3512 neurofibrosarcoma ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16239399 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:363 uterine cancer ISO RGD:735648 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:30417923|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:735648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:735648 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735648 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:30417923|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:3948 adrenocortical carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:4362 cervical cancer ISO RGD:735648 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:14984964|REF_RGD_ID:2314838 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:4450 renal cell carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:630 genetic disease ISO RGD:735648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:6536 plasma cell neoplasm ISO RGD:735648 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17517660 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD human gene in mouse model PMID:21993994|REF_RGD_ID:14696775 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma severity ISO RGD:735648 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (mouse, human) PMID:30685691|REF_RGD_ID:14696793 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:686 liver carcinoma ISO RGD:735648 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:3018923|REF_RGD_ID:14975106 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:707 B-cell lymphoma ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14633661 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:10821536|PMID:12460918|PMID:15899789|PMID:16273091|PMID:16291983|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19657110|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22718121|PMID:22761467|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24148783|PMID:24671188|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:735648 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:12460918|PMID:16273091|PMID:16291983|PMID:16434492|PMID:17699718|PMID:18390968|PMID:18948947|PMID:19075190|PMID:19657110|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21305640|PMID:21729679|PMID:21829508|PMID:22407852|PMID:2278970|PMID:23134356|PMID:23334668|PMID:23414587|PMID:23515407|PMID:23614898|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28594414|PMID:30417923|PMID:3122217|PMID:32888943|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:735648 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9000217 Stomach Neoplasms ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:25157968 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9001039 Leukocytosis ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735648 D RGD:9068941 20200609 RGD human gene in mouse model PMID:16286660|REF_RGD_ID:14975105 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9001866 Pyogenic Granuloma ISO RGD:735648 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pyogenic granuloma PMID:25741868 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9205081 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9002457 Experimental Arthritis ISO RGD:3205 D RGD:9068941 20200609 RGD PMID:18706093|REF_RGD_ID:2300006 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:735648 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9002720 Splenomegaly ISO RGD:735648 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9003571 Paraproteinemias ISO RGD:735648 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9004441 Experimental Leukemia induced ISO RGD:3205 D RGD:9068941 20200609 RGD DNA:transversion mutation, loss of heterozygosity:cds: PMID:9142215|REF_RGD_ID:11535063 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:735648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:12460918|PMID:16291983|PMID:18390968|PMID:18948947|PMID:19657110|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:21576590|PMID:22761467|PMID:23076151|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24370118|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:28492532|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9004672 Neurocutaneous Melanosis ISO RGD:735648 D RGD:7240710 20180130 OMIM 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9004672 Neurocutaneous Melanosis ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurocutaneous melanosis syndrome PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:735648 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9005120 Pigmented Nevus ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3102434|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9005474 Experimental Sarcoma ISO RGD:3205 D RGD:9068941 20200609 RGD DNA:transversion:exon p.Q61L (human) PMID:11295286|REF_RGD_ID:1598680 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735648 D RGD:7240710 20180130 OMIM 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735648 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12460918|PMID:12727991|PMID:14508525|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18948947|PMID:19075190|PMID:19880792|PMID:20130576|PMID:20179705|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23392294|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:2674680|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9006618 Liver Metastasis ISO RGD:735648 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:missense mutations:cds:p.G12V, p.Q61K (human) PMID:26799184|REF_RGD_ID:14696774 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9006618 Liver Metastasis susceptibility ISO RGD:735648 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:exons (human) PMID:28011498|REF_RGD_ID:14696792 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9006618 Liver Metastasis susceptibility ISO RGD:735648 D RGD:9068941 20200609 RGD associated with melanoma;DNA:mutations: exons (human) PMID:28787433|REF_RGD_ID:14696791 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms disease_progression ISO RGD:3205 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17708355|REF_RGD_ID:2303822 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9007502 Brain Neoplasms ISO RGD:735648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9007502 Brain Neoplasms ISO RGD:735648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:15899789|PMID:16273091|PMID:16291983|PMID:16434492|PMID:1654209|PMID:17699718|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18948947|PMID:19075190|PMID:19657110|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21107323|PMID:21305640|PMID:21576590|PMID:21729679|PMID:21829508|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:23076151|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:24148783|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:28492532|PMID:28780248|PMID:3122217|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735648 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:735648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17699718|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:27050078|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:735648 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:11018 D RGD:9068941 20200609 RGD PMID:18952898|REF_RGD_ID:11070616 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735648 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:25204082|REF_RGD_ID:11535045 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9256 colorectal cancer ISO RGD:735648 D RGD:7240710 20200226 OMIM 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9256 colorectal cancer ISO RGD:735648 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:17671181|PMID:22220252|PMID:23325582|PMID:23708912|PMID:24806883|PMID:25741868|PMID:26980726|PMID:27069254|PMID:27121720|PMID:27276561|PMID:28492532|PMID:28594414|PMID:29692343 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9446 cholangitis ISO RGD:735648 D RGD:9068941 20200609 RGD mRNA:increased expression:cd4-positive helper T cells (human) PMID:30690835|REF_RGD_ID:14975104 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:735648 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:10598665|PMID:10821536|PMID:12460918|PMID:12727991|PMID:14508525|PMID:14982869|PMID:15046639|PMID:15831708|PMID:15899789|PMID:15951308|PMID:16273091|PMID:16291983|PMID:16434492|PMID:16518851|PMID:1654209|PMID:17332249|PMID:17384584|PMID:17517660|PMID:17671181|PMID:17699718|PMID:17823240|PMID:18375819|PMID:18390968|PMID:18633438|PMID:18668139|PMID:18794081|PMID:18948947|PMID:18952898|PMID:19047918|PMID:19075190|PMID:19657110|PMID:19775298|PMID:19880792|PMID:19966803|PMID:20130576|PMID:20149136|PMID:20179705|PMID:20406486|PMID:20619739|PMID:20736745|PMID:21079152|PMID:21107323|PMID:21263000|PMID:21305640|PMID:21576590|PMID:21586752|PMID:21729679|PMID:21829508|PMID:22144181|PMID:22220252|PMID:22407852|PMID:22499344|PMID:22718121|PMID:22761467|PMID:22773810|PMID:2278970|PMID:22962325|PMID:23076151|PMID:23134356|PMID:23325582|PMID:23334668|PMID:23392294|PMID:23400451|PMID:23414587|PMID:23431193|PMID:23515407|PMID:23538902|PMID:23569304|PMID:23614898|PMID:23708912|PMID:24006476|PMID:24033266|PMID:2407301|PMID:24148783|PMID:24284627|PMID:24370118|PMID:24671188|PMID:24806883|PMID:25157968|PMID:25348872|PMID:25695684|PMID:25741868|PMID:26619011|PMID:2674680|PMID:26821351|PMID:26980726|PMID:27050078|PMID:27069254|PMID:27121720|PMID:27276561|PMID:27993330|PMID:28098151|PMID:28492532|PMID:28594414|PMID:28780248|PMID:29692343|PMID:2989702|PMID:30417923|PMID:3102434|PMID:3122217|PMID:32888943|PMID:6587382|PMID:8120410 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma treatment ISO RGD:735648 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:24335104|REF_RGD_ID:11535049 8796510 Nras NRAS proto-oncogene, GTPase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:735648 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:25204082|REF_RGD_ID:11535045 8796521 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8796521 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1342792 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8796521 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8796521 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8796521 Tomm22 translocase of outer mitochondrial membrane 22 gene DOID:630 genetic disease ISO RGD:1342792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796542 Ca7 carbonic anhydrase 7 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1315686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8796542 Ca7 carbonic anhydrase 7 gene DOID:0110255 cataract 5 multiple types ISO RGD:1315686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8796542 Ca7 carbonic anhydrase 7 gene DOID:630 genetic disease ISO RGD:1315686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796556 Rac1 Rac family small GTPase 1 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1605432 D RGD:9068941 20220922 RGD mRNA, protein:increased expression:colorectum (human) PMID:30926638|REF_RGD_ID:155230818 8796556 Rac1 Rac family small GTPase 1 gene DOID:0050912 colon adenoma ISO RGD:1605432 D RGD:9068941 20200609 RGD PMID:12865273|REF_RGD_ID:13432048 8796556 Rac1 Rac family small GTPase 1 gene DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ISO RGD:1605432 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868|PMID:28886345 8796556 Rac1 Rac family small GTPase 1 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:1605432 D RGD:9068941 20220908 RGD human cell line in a mouse model PMID:23559092|REF_RGD_ID:153350124 8796556 Rac1 Rac family small GTPase 1 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220804 RGD protein:increased expression:colorectum (human) PMID:30064309|REF_RGD_ID:153298972 8796556 Rac1 Rac family small GTPase 1 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220909 RGD protein:increased activity:colorectal mucosa (human) PMID:25529012|REF_RGD_ID:153350139 8796556 Rac1 Rac family small GTPase 1 gene DOID:0080235 autosomal dominant intellectual developmental disorder 48 ISO RGD:1605432 D RGD:7240710 20190315 OMIM 8796556 Rac1 Rac family small GTPase 1 gene DOID:0080235 autosomal dominant intellectual developmental disorder 48 ISO RGD:1605432 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 PMID:25741868|PMID:25741888|PMID:28492532|PMID:28886345|PMID:30042656|PMID:32860008|PMID:35139179 8796556 Rac1 Rac family small GTPase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:1605432 D RGD:9068941 20220908 RGD protein:increased expression:mucosa of stomach (human) PMID:23298303|REF_RGD_ID:153350128 8796556 Rac1 Rac family small GTPase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 8796556 Rac1 Rac family small GTPase 1 gene DOID:1324 lung cancer treatment ISO RGD:1605432 D RGD:9068941 20220922 RGD DNA:SNPs:enhancers, intron: (rs836554, rs4720672, rs12536544) (human) PMID:27299748|REF_RGD_ID:155230814 8796556 Rac1 Rac family small GTPase 1 gene DOID:1612 breast cancer ISO RGD:1605432 D RGD:9068941 20220922 RGD protein:increased expression:breast (human) PMID:22345078|REF_RGD_ID:155230815 8796556 Rac1 Rac family small GTPase 1 gene DOID:1612 breast cancer exacerbates ISO RGD:1605432 D RGD:9068941 20220818 RGD protein:increased expression:breast (human) PMID:25557791|REF_RGD_ID:153323321 8796556 Rac1 Rac family small GTPase 1 gene DOID:1909 melanoma ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:25056119|PMID:26619011 8796556 Rac1 Rac family small GTPase 1 gene DOID:234 colon adenocarcinoma ISO RGD:1605432 D RGD:9068941 20200609 RGD mRNA:alternative form PMID:10597294|REF_RGD_ID:13432049 8796556 Rac1 Rac family small GTPase 1 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1605432 D RGD:9068941 20200609 RGD PMID:19561401|REF_RGD_ID:13432051 8796556 Rac1 Rac family small GTPase 1 gene DOID:3495 extrahepatic bile duct adenocarcinoma ISO RGD:1605432 D RGD:9068941 20220908 RGD protein:increased expression:mucosa (human) PMID:21537609|REF_RGD_ID:153350126 8796556 Rac1 Rac family small GTPase 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1553531 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (mouse) PMID:21684285|REF_RGD_ID:14392816 8796556 Rac1 Rac family small GTPase 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1605432 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:23334332|REF_RGD_ID:14392806 8796556 Rac1 Rac family small GTPase 1 gene DOID:363 uterine cancer ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25056119|PMID:26619011 8796556 Rac1 Rac family small GTPase 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220811 RGD protein:increased expression:stomach (human) PMID:23485997|REF_RGD_ID:153300951 8796556 Rac1 Rac family small GTPase 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1316840 D RGD:9068941 20220908 RGD PMID:32366477|REF_RGD_ID:153345550 8796556 Rac1 Rac family small GTPase 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220707 RGD mRNA:increased expression:lung (human) PMID:31779616|REF_RGD_ID:152998910 8796556 Rac1 Rac family small GTPase 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:1605432 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:21037555|REF_RGD_ID:14392805 8796556 Rac1 Rac family small GTPase 1 gene DOID:409 liver disease ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17058265 8796556 Rac1 Rac family small GTPase 1 gene DOID:4948 gallbladder carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220922 RGD protein:increased expression:gallbladder (human) PMID:21853342|REF_RGD_ID:155230819 8796556 Rac1 Rac family small GTPase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:25056119|PMID:26619011 8796556 Rac1 Rac family small GTPase 1 gene DOID:6000 congestive heart failure ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 8796556 Rac1 Rac family small GTPase 1 gene DOID:6000 congestive heart failure ISO RGD:619755 D RGD:9068941 20200609 RGD PMID:12642504|REF_RGD_ID:1581295 8796556 Rac1 Rac family small GTPase 1 gene DOID:630 genetic disease ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796556 Rac1 Rac family small GTPase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18506888 8796556 Rac1 Rac family small GTPase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220804 RGD mRNA:increased expression:liver (human) PMID:33482578|REF_RGD_ID:153298967 8796556 Rac1 Rac family small GTPase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220908 RGD protein:increased expression:liver (human) PMID:20522449|REF_RGD_ID:153350129 8796556 Rac1 Rac family small GTPase 1 gene DOID:8923 skin melanoma ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:25056119|PMID:26619011 8796556 Rac1 Rac family small GTPase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18506888 8796556 Rac1 Rac family small GTPase 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28710503 8796556 Rac1 Rac family small GTPase 1 gene DOID:9002371 Cardiotoxicity ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28710503 8796556 Rac1 Rac family small GTPase 1 gene DOID:9003936 Cardiomegaly ISO RGD:1553531 D RGD:9068941 20200609 RGD PMID:16651530|PMID:16698001|REF_RGD_ID:1581293|REF_RGD_ID:1581294 8796556 Rac1 Rac family small GTPase 1 gene DOID:9004484 Sepsis ISO RGD:1605432 D RGD:9068941 20220707 RGD mRNA:increased expression:blood serum (human) PMID:33174038|REF_RGD_ID:152998912 8796556 Rac1 Rac family small GTPase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:619755 D RGD:9068941 20200609 RGD PMID:12642504|REF_RGD_ID:1581295 8796556 Rac1 Rac family small GTPase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 8796556 Rac1 Rac family small GTPase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605432 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741888|PMID:28886345 8796556 Rac1 Rac family small GTPase 1 gene DOID:9008582 Developmental Disease ISO RGD:1605432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8796556 Rac1 Rac family small GTPase 1 gene DOID:9256 colorectal cancer ISO RGD:1605432 D RGD:9068941 20200609 RGD PMID:17597401|REF_RGD_ID:13432052 8796556 Rac1 Rac family small GTPase 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1605432 D RGD:9068941 20220707 RGD human cell line in a mouse model PMID:29884911|REF_RGD_ID:152998911 8796556 Rac1 Rac family small GTPase 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1605432 D RGD:9068941 20200609 RGD mRNA:alternative form PMID:24833563|REF_RGD_ID:13432050 8796556 Rac1 Rac family small GTPase 1 gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:1605432 D RGD:9068941 20220908 RGD protein:increased expression:nasopharynx (human) PMID:19506399|REF_RGD_ID:153350125 8796556 Rac1 Rac family small GTPase 1 gene DOID:9351 diabetes mellitus ISO RGD:1605432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 8796569 Mrps24 mitochondrial ribosomal protein S24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8796569 Mrps24 mitochondrial ribosomal protein S24 gene DOID:630 genetic disease ISO RGD:1314387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796603 Adgrd1 adhesion G protein-coupled receptor D1 gene DOID:630 genetic disease ISO RGD:1344919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796659 Vkorc1l1 vitamin K epoxide reductase complex subunit 1 like 1 gene DOID:10283 prostate cancer ISO RGD:1353419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8796659 Vkorc1l1 vitamin K epoxide reductase complex subunit 1 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8796659 Vkorc1l1 vitamin K epoxide reductase complex subunit 1 like 1 gene DOID:630 genetic disease ISO RGD:1353419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796665 Rnf24 ring finger protein 24 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1319703 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8796665 Rnf24 ring finger protein 24 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1319703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8796665 Rnf24 ring finger protein 24 gene DOID:630 genetic disease ISO RGD:1319703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796675 Spmip3 sperm microtubule inner protein 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603542 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8796675 Spmip3 sperm microtubule inner protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8796675 Spmip3 sperm microtubule inner protein 3 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1603542 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 8796675 Spmip3 sperm microtubule inner protein 3 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1603542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 8796675 Spmip3 sperm microtubule inner protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8796704 Anxa2 annexin A2 gene DOID:0080600 COVID-19 ISO RGD:736099 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8796704 Anxa2 annexin A2 gene DOID:10159 osteonecrosis ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:15784727|REF_RGD_ID:1578382 8796704 Anxa2 annexin A2 gene DOID:11476 osteoporosis ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8796704 Anxa2 annexin A2 gene DOID:1350 paranasal sinus benign neoplasm disease_progression ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:20970165|REF_RGD_ID:7421559 8796704 Anxa2 annexin A2 gene DOID:1459 hypothyroidism ISO RGD:621170 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland: PMID:9022675|REF_RGD_ID:2306952 8796704 Anxa2 annexin A2 gene DOID:1749 squamous cell carcinoma ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8796704 Anxa2 annexin A2 gene DOID:1790 malignant mesothelioma ISO RGD:736099 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:20682992 8796704 Anxa2 annexin A2 gene DOID:2717 Bloom syndrome ISO RGD:736099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8796704 Anxa2 annexin A2 gene DOID:3008 invasive ductal carcinoma treatment ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:19171478|REF_RGD_ID:7421560 8796704 Anxa2 annexin A2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736099 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:pancreas, plasma membrane PMID:16450333|REF_RGD_ID:2325731 8796704 Anxa2 annexin A2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:19260470|REF_RGD_ID:2317307 8796704 Anxa2 annexin A2 gene DOID:4450 renal cell carcinoma ISO RGD:621170 D RGD:9068941 20200609 RGD PMID:14587099|REF_RGD_ID:7421570 8796704 Anxa2 annexin A2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:736099 D RGD:9068941 20200609 RGD PMID:20493868|REF_RGD_ID:2325728 8796704 Anxa2 annexin A2 gene DOID:630 genetic disease ISO RGD:736099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796704 Anxa2 annexin A2 gene DOID:684 hepatocellular carcinoma ISO RGD:736099 D RGD:9068941 20220721 RGD mRNA, protein:increased expression:liver (human) PMID:33675609|REF_RGD_ID:152999436 8796704 Anxa2 annexin A2 gene DOID:7998 hyperthyroidism ISO RGD:621170 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland: PMID:9022675|REF_RGD_ID:2306952 8796704 Anxa2 annexin A2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621170 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron,glial cell PMID:15248295|REF_RGD_ID:10053688 8796704 Anxa2 annexin A2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 8796704 Anxa2 annexin A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8796704 Anxa2 annexin A2 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:736099 D RGD:9068941 20200609 RGD protein:increased expression:chondrocyte: PMID:10903884|REF_RGD_ID:10053727 8796704 Anxa2 annexin A2 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:621170 D RGD:9068941 20211015 RGD PMID:24819400|REF_RGD_ID:150519886 8796704 Anxa2 annexin A2 gene DOID:9003936 Cardiomegaly ISO RGD:621170 D RGD:9068941 20200609 RGD mRNA:increased expression:heart: PMID:10603972|REF_RGD_ID:10053694 8796704 Anxa2 annexin A2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 8796704 Anxa2 annexin A2 gene DOID:9004657 Weight Gain ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8796704 Anxa2 annexin A2 gene DOID:9005172 Lung Neoplasms ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20682992 8796704 Anxa2 annexin A2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621170 D RGD:9068941 20200609 RGD protein:increased glycation:respiratory system blood vessel endothelium PMID:11423489|REF_RGD_ID:2306888 8796704 Anxa2 annexin A2 gene DOID:9007188 Liver Neoplasms ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8796704 Anxa2 annexin A2 gene DOID:9007364 Mouth Neoplasms ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8796704 Anxa2 annexin A2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8796704 Anxa2 annexin A2 gene DOID:9007417 Pseudomonas Infections severity ISO RGD:731825 D RGD:9068941 20200924 RGD PMID:26371245|REF_RGD_ID:38676497 8796704 Anxa2 annexin A2 gene DOID:9119 acute myeloid leukemia ISO RGD:736099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8796704 Anxa2 annexin A2 gene DOID:9256 colorectal cancer ISO RGD:736099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8796731 Rcn1 reticulocalbin 1 gene DOID:0070532 aniridia 1 ISO RGD:1322672 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 8796731 Rcn1 reticulocalbin 1 gene DOID:1059 intellectual disability ISO RGD:1322672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8796731 Rcn1 reticulocalbin 1 gene DOID:305 carcinoma ISO RGD:1322672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8796731 Rcn1 reticulocalbin 1 gene DOID:3764 Denys-Drash syndrome ISO RGD:1322672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 8796731 Rcn1 reticulocalbin 1 gene DOID:630 genetic disease ISO RGD:1322672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796731 Rcn1 reticulocalbin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1322672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8796731 Rcn1 reticulocalbin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8796731 Rcn1 reticulocalbin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1322672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8796741 Ttc13 tetratricopeptide repeat domain 13 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1320938 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 8796741 Ttc13 tetratricopeptide repeat domain 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1320938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8796741 Ttc13 tetratricopeptide repeat domain 13 gene DOID:630 genetic disease ISO RGD:1320938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796741 Ttc13 tetratricopeptide repeat domain 13 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1320938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8796741 Ttc13 tetratricopeptide repeat domain 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8796778 Adgrf3 adhesion G protein-coupled receptor F3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1314157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8796778 Adgrf3 adhesion G protein-coupled receptor F3 gene DOID:630 genetic disease ISO RGD:1314157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796796 Gabrq gamma-aminobutyric acid type A receptor subunit theta gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8796796 Gabrq gamma-aminobutyric acid type A receptor subunit theta gene DOID:12849 autistic disorder ISO RGD:731793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8796796 Gabrq gamma-aminobutyric acid type A receptor subunit theta gene DOID:630 genetic disease ISO RGD:731793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796808 Ell3 elongation factor for RNA polymerase II 3 gene DOID:2717 Bloom syndrome ISO RGD:1320517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8796808 Ell3 elongation factor for RNA polymerase II 3 gene DOID:630 genetic disease ISO RGD:1320517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796808 Ell3 elongation factor for RNA polymerase II 3 gene DOID:9256 colorectal cancer ISO RGD:1320517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:0081292 traumatic brain injury ISO RGD:3651 D RGD:9068941 20230727 RGD protein:increased expression:cerebral cortex PMID:27614125|REF_RGD_ID:329961568 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:10283 prostate cancer ameliorates ISO RGD:737223 D RGD:9068941 20220429 RGD human cells in mouse model PMID:30537000|REF_RGD_ID:152025215 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:11664 nephrosclerosis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:737223 D RGD:9068941 20200609 RGD associated with Diabetic Foot;DNA:polymorphism:3' utr (human) PMID:16723689|REF_RGD_ID:2306558 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:12932 endomyocardial fibrosis ISO RGD:737223 D RGD:9068941 20220310 CTD CTD Direct Evidence: therapeutic PMID:34310909 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:1790 malignant mesothelioma ISO RGD:737223 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:1824 status epilepticus ISO RGD:3651 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19054393|REF_RGD_ID:2306568 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:224 transient cerebral ischemia ISO RGD:3651 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:24924806|REF_RGD_ID:11352662 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:2316 brain ischemia ISO RGD:3651 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:18206136|REF_RGD_ID:2306577 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:2596 larynx cancer exacerbates ISO RGD:737223 D RGD:9068941 20220512 RGD protein:increased expression: mucosa of larynx (human) PMID:23259294|REF_RGD_ID:152177474 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:2723 dermatitis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:326 ischemia ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18227068 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:3393 coronary artery disease ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:3459 breast carcinoma susceptibility ISO RGD:737223 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15978329|REF_RGD_ID:2317609 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:3892 insulinoma ISO RGD:737223 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19013212|REF_RGD_ID:2317608 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737223 D RGD:9068941 20230128 RGD mRNA:decreased expression:kidney: PMID:29218250|REF_RGD_ID:155804290 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3651 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:17557270|REF_RGD_ID:2306579 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737223 D RGD:7240710 20230505 OMIM 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737223 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:25741868|PMID:9430590 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:5844 myocardial infarction ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:19187644|REF_RGD_ID:2306567 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:5844 myocardial infarction ISO RGD:3651 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:11820456|REF_RGD_ID:632503 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:630 genetic disease ISO RGD:737223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:684 hepatocellular carcinoma ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:824 periodontitis ISO RGD:737223 D RGD:9068941 20200609 RGD PMID:18454663|REF_RGD_ID:2306575 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:8947 diabetic retinopathy severity ISO RGD:737223 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:15630447|REF_RGD_ID:2306559 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:737223 D RGD:9068941 20220422 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) PMID:21633638|REF_RGD_ID:152023624 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9000641 Pain ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:11438578|REF_RGD_ID:2306307 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9000656 Penetrating Wounds ISO RGD:11280 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:17950070|REF_RGD_ID:2306556 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21312072|PMID:23743303 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737223 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:12761880|REF_RGD_ID:2317610 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737223 D RGD:9068941 20200609 RGD associated with Pancreatic Carcinoma PMID:26330165|REF_RGD_ID:10398726 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9001004 Chronic Periodontitis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731768 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9001004 Chronic Periodontitis ISO RGD:737223 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9001600 Wounds and Injuries ISO RGD:3651 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ligament PMID:19327017|REF_RGD_ID:2306564 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737223 D RGD:9068941 20220310 CTD CTD Direct Evidence: therapeutic PMID:34310909 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9002138 Spinal Cord Reperfusion Injury ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:27760212|REF_RGD_ID:12910551 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9002211 Hyperalgesia ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:28638088|REF_RGD_ID:13838657 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785557 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9002801 Recurrence ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22607768 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9004009 Reperfusion Injury ISO RGD:3651 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18709383|REF_RGD_ID:2306570 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19700239|PMID:25231984|PMID:25753200 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9004994 Embryo Loss ISO RGD:11280 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:18384776|REF_RGD_ID:2306554 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11280 D RGD:9068941 20200609 RGD PMID:17878289|REF_RGD_ID:2306557 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3651 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18201529|REF_RGD_ID:2306555 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:737223 D RGD:9068941 20220421 RGD associated with colorectal cancer; human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9008763 Femoral Fractures treatment ISO RGD:3651 D RGD:9068941 20200609 RGD PMID:25181476|REF_RGD_ID:11352664 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9008939 Breast Neoplasms ISO RGD:737223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18521742 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737223 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18451752|REF_RGD_ID:2306553 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus ISO RGD:11280 D RGD:9068941 20200609 RGD PMID:12383202|REF_RGD_ID:2306562 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:737223 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr (human) PMID:14679085|REF_RGD_ID:2306561 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:11280 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:18793419|REF_RGD_ID:2301942 8796823 Cxcl12 C-X-C motif chemokine ligand 12 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:737223 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr (human) PMID:11334429|PMID:14522095|REF_RGD_ID:2306560|REF_RGD_ID:2306563 8796837 Bcar3 BCAR3 adaptor protein, NSP family member gene DOID:303 substance-related disorder ISO RGD:36174057 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8796837 Bcar3 BCAR3 adaptor protein, NSP family member gene DOID:630 genetic disease ISO RGD:36174057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796837 Bcar3 BCAR3 adaptor protein, NSP family member gene DOID:9008939 Breast Neoplasms ISO RGD:36174057 D RGD:9068941 20210129 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 8796890 Znf821 zinc finger protein 821 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8796890 Znf821 zinc finger protein 821 gene DOID:630 genetic disease ISO RGD:1604613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796911 LOC102015452 chromosome unknown open reading frame, human C14orf132 gene DOID:2224 essential thrombocythemia ISO RGD:1350098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 8796911 LOC102015452 chromosome unknown open reading frame, human C14orf132 gene DOID:4971 myelofibrosis ISO RGD:1350098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 8796911 LOC102015452 chromosome unknown open reading frame, human C14orf132 gene DOID:9119 acute myeloid leukemia ISO RGD:1350098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8796917 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8796917 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 8796917 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:735943 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 8796917 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 8796917 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:1540 parathyroid carcinoma ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8796917 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:5419 schizophrenia ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8796917 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:630 genetic disease ISO RGD:735943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796917 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8796917 Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8796933 Ube2l3 ubiquitin conjugating enzyme E2 L3 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 8796933 Ube2l3 ubiquitin conjugating enzyme E2 L3 gene DOID:11198 DiGeorge syndrome ISO RGD:1318085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8796933 Ube2l3 ubiquitin conjugating enzyme E2 L3 gene DOID:630 genetic disease ISO RGD:1318085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796933 Ube2l3 ubiquitin conjugating enzyme E2 L3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1318085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24162738 8796948 Atp9a ATPase phospholipid transporting 9A (putative) gene DOID:0060747 Duane-radial ray syndrome ISO RGD:735480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:11826030|PMID:15342710 8796948 Atp9a ATPase phospholipid transporting 9A (putative) gene DOID:630 genetic disease ISO RGD:735480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796948 Atp9a ATPase phospholipid transporting 9A (putative) gene DOID:9000845 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES ISO RGD:735480 D RGD:7240710 20230505 OMIM 8796948 Atp9a ATPase phospholipid transporting 9A (putative) gene DOID:9000845 NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES ISO RGD:735480 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities PMID:25741868|PMID:34379057|PMID:34764295|PMID:36604604 8796948 Atp9a ATPase, class II, type 9A gene DOID:0060038 specific developmental disorder ISO RGD:735481 D RGD:9068941 20240321 MouseDO 8796980 Ebf1 EBF transcription factor 1 gene DOID:0050873 follicular lymphoma ISO RGD:1349579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 8796980 Ebf1 EBF transcription factor 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8796980 Ebf1 EBF transcription factor 1 gene DOID:630 genetic disease ISO RGD:1349579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8796980 Ebf1 EBF transcription factor 1 gene DOID:811 lipodystrophy ISO RGD:732633 D RGD:9068941 20220825 MouseDO OMIM:608709 8796980 Ebf1 EBF transcription factor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1349579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 8797004 Ints1 integrator complex subunit 1 gene DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ISO RGD:1606801 D RGD:7240710 20191016 OMIM 8797004 Ints1 integrator complex subunit 1 gene DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies ISO RGD:1606801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies PMID:16199547|PMID:25741868|PMID:28492532|PMID:28542170|PMID:28763441|PMID:30622326|PMID:31428919 8797004 Ints1 integrator complex subunit 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1606801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome 8797004 Ints1 integrator complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30622326 8797063 Zbtb45 zinc finger and BTB domain containing 45 gene DOID:630 genetic disease ISO RGD:1322100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797070 Samd5 sterile alpha motif domain containing 5 gene DOID:630 genetic disease ISO RGD:1353343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797074 Tdrd9 tudor domain containing 9 gene DOID:0080600 COVID-19 ISO RGD:1315843 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8797074 Tdrd9 tudor domain containing 9 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1315843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8797074 Tdrd9 tudor domain containing 9 gene DOID:0111913 spermatogenic failure 30 ISO RGD:1315843 D RGD:7240710 20190410 OMIM 8797074 Tdrd9 tudor domain containing 9 gene DOID:0111913 spermatogenic failure 30 ISO RGD:1315843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 30 PMID:25741868 8797074 Tdrd9 tudor domain containing 9 gene DOID:14227 azoospermia ISO RGD:1315843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8797074 Tdrd9 tudor domain containing 9 gene DOID:630 genetic disease ISO RGD:1315843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8797119 Cacybp calcyclin binding protein gene DOID:1540 parathyroid carcinoma ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8797119 Cacybp calcyclin binding protein gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1346732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:18765951|REF_RGD_ID:2326146 8797119 Cacybp calcyclin binding protein gene DOID:3755 antithrombin III deficiency ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8797119 Cacybp calcyclin binding protein gene DOID:5844 myocardial infarction ISO RGD:1303146 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16440310|REF_RGD_ID:2326117 8797119 Cacybp calcyclin binding protein gene DOID:630 genetic disease ISO RGD:1346732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797119 Cacybp calcyclin binding protein gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346732 D RGD:9068941 20200609 RGD associated with pancreatic neoplasms PMID:18765951|REF_RGD_ID:2326146 8797119 Cacybp calcyclin binding protein gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8797119 Cacybp calcyclin binding protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8797130 Fem1c fem-1 homolog C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8797130 Fem1c fem-1 homolog C gene DOID:12849 autistic disorder ISO RGD:1319607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8797130 Fem1c fem-1 homolog C gene DOID:630 genetic disease ISO RGD:1319607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797130 Fem1c fem-1 homolog C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8797130 Fem1c fem-1 homolog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8797130 Fem1c fem-1 homolog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8797137 Endov endonuclease V gene DOID:630 genetic disease ISO RGD:1602281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797137 Endov endonuclease V gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1602281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Moyamoya disease 2 8797150 Ctnna1 catenin alpha 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8797150 Ctnna1 catenin alpha 1 gene DOID:0060863 patterned macular dystrophy ISO RGD:1348842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691986 8797150 Ctnna1 catenin alpha 1 gene DOID:0060864 patterned macular dystrophy 2 ISO RGD:1348842 D RGD:7240710 20190315 OMIM 8797150 Ctnna1 catenin alpha 1 gene DOID:0060864 patterned macular dystrophy 2 ISO RGD:1348842 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Patterned macular dystrophy 2 PMID:17576681|PMID:25741868|PMID:26691986|PMID:26845104|PMID:27153395|PMID:28041643|PMID:28492532|PMID:32051609|PMID:33137351|PMID:33435129|PMID:34326862|PMID:5442145|PMID:9536098 8797150 Ctnna1 catenin alpha 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8797150 Ctnna1 catenin alpha 1 gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1348842 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles PMID:25741868 8797150 Ctnna1 catenin alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348842 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8797150 Ctnna1 catenin alpha 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1348842 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:25741868|PMID:26182300|PMID:26689913|PMID:28492532|PMID:30515673|PMID:32051609|PMID:34425242 8797150 Ctnna1 catenin alpha 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1348842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8797150 Ctnna1 catenin alpha 1 gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:1348842 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 PMID:28492532|PMID:32051609|PMID:34425242 8797150 Ctnna1 catenin alpha 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD PMID:17639504|REF_RGD_ID:2289791 8797150 Ctnna1 catenin alpha 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:16334164|REF_RGD_ID:2289793 8797150 Ctnna1 catenin alpha 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD PMID:17760743|REF_RGD_ID:2289491 8797150 Ctnna1 catenin alpha 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1348842 D RGD:9068941 20200609 RGD PMID:16426728|REF_RGD_ID:2298486 8797150 Ctnna1 catenin alpha 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:12047765|REF_RGD_ID:2289795 8797150 Ctnna1 catenin alpha 1 gene DOID:3905 lung carcinoma ISO RGD:1359485 D RGD:9068941 20200609 RGD PMID:15195114|REF_RGD_ID:2289804 8797150 Ctnna1 catenin alpha 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:9355975|REF_RGD_ID:2289799 8797150 Ctnna1 catenin alpha 1 gene DOID:5041 esophageal cancer disease_progression ISO RGD:1359485 D RGD:9068941 20200609 RGD PMID:9863006|REF_RGD_ID:2289811 8797150 Ctnna1 catenin alpha 1 gene DOID:5419 schizophrenia ISO RGD:1348842 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8797150 Ctnna1 catenin alpha 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8797150 Ctnna1 catenin alpha 1 gene DOID:630 genetic disease ISO RGD:1348842 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8797150 Ctnna1 catenin alpha 1 gene DOID:8501 fundus dystrophy ISO RGD:1348842 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28041643|PMID:28492532|PMID:30515673|PMID:32051609|PMID:33137351|PMID:34425242 8797150 Ctnna1 catenin alpha 1 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:11161853|REF_RGD_ID:2289797 8797150 Ctnna1 catenin alpha 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1348842 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:12047765|REF_RGD_ID:2289795 8797150 Ctnna1 catenin alpha 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:9522220|REF_RGD_ID:2289798 8797150 Ctnna1 catenin alpha 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:11161853|REF_RGD_ID:2289797 8797150 Ctnna1 catenin alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8797150 Ctnna1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:18487285|PMID:19279422|PMID:21643010|PMID:23208944|PMID:25741868|PMID:26182300|PMID:26691986|PMID:26845104|PMID:28166811|PMID:28455161|PMID:28492532|PMID:29330337|PMID:9536098 8797150 Ctnna1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:9536098 8797150 Ctnna1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:27153395|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:33497368|PMID:9536098 8797150 Ctnna1 catenin alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348842 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:16199547|PMID:17576681|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:25741868|PMID:26691986|PMID:26845104|PMID:27153395|PMID:28041643|PMID:28492532|PMID:29330337|PMID:30515673|PMID:32051609|PMID:32717343|PMID:33137351|PMID:33435129|PMID:33497368|PMID:34326862|PMID:34425242|PMID:9536098 8797150 Ctnna1 catenin alpha 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1348842 D RGD:9068941 20200609 RGD PMID:16803534|REF_RGD_ID:2298485 8797150 Ctnna1 catenin alpha 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1348842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 8797150 Ctnna1 catenin alpha 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17223851|REF_RGD_ID:2289792 8797150 Ctnna1 catenin alpha 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1348842 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11431364|REF_RGD_ID:2289796 8797150 Ctnna1 catenin alpha 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1348842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8797150 Ctnna1 catenin alpha 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8797150 Ctnna1 catenin alpha 1 gene DOID:9256 colorectal cancer ISO RGD:1348842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:28492532 8797210 Tmeff2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:10283 prostate cancer ISO RGD:1318843 D RGD:9068941 20200609 RGD PMID:15299075|REF_RGD_ID:2290490 8797210 Tmeff2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:10283 prostate cancer ISO RGD:1318843 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16458425|REF_RGD_ID:2290486 8797210 Tmeff2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1318843 D RGD:9068941 20200609 RGD PMID:16500022|REF_RGD_ID:2290485 8797210 Tmeff2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:11054 urinary bladder cancer ISO RGD:1318843 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16234815|REF_RGD_ID:2290489 8797210 Tmeff2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8797210 Tmeff2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:630 genetic disease ISO RGD:1318843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797210 Tmeff2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23405127 8797210 Tmeff2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8797210 Tmeff2 transmembrane protein with EGF like and two follistatin like domains 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1318843 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16234815|REF_RGD_ID:2290489 8797223 Trim71 tripartite motif containing 71 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 8797223 Trim71 tripartite motif containing 71 gene DOID:0080600 COVID-19 ISO RGD:1606726 D RGD:9068941 20220523 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8797223 Trim71 tripartite motif containing 71 gene DOID:10908 hydrocephalus ISO RGD:1606726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:25741868|PMID:29983323 8797223 Trim71 tripartite motif containing 71 gene DOID:630 genetic disease ISO RGD:1606726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797223 Trim71 tripartite motif containing 71 gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:1606726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868 8797223 Trim71 tripartite motif containing 71 gene DOID:9007789 Congenital Communicating Hydrocephalus 1 ISO RGD:1606726 D RGD:7240710 20200422 OMIM 8797223 Trim71 tripartite motif containing 71 gene DOID:9007789 Congenital Communicating Hydrocephalus 1 ISO RGD:1606726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus, congenital communicating, 1 PMID:25741868|PMID:29983323 8797232 Lrrd1 leucine rich repeats and death domain containing 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:5132687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 8797232 Lrrd1 leucine rich repeats and death domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:5132687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8797232 Lrrd1 leucine rich repeats and death domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5132687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8797232 Lrrd1 leucine rich repeats and death domain containing 1 gene DOID:630 genetic disease ISO RGD:5132687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050451 Brugada syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:8899564|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0050700 cardiomyopathy ISO RGD:736969 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10807545|PMID:10973849|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:18426444|PMID:19305408|PMID:19695459|PMID:19907016|PMID:20823649|PMID:21244686|PMID:21712262|PMID:21907427|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23098067|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24710009|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:28807990|PMID:29625280|PMID:30245029|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31941373|PMID:32429735|PMID:8899564|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060224 atrial fibrillation ISO RGD:736969 D RGD:9068941 20200609 RGD PMID:12228786|REF_RGD_ID:1580498 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:736969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0080600 COVID-19 ISO RGD:736969 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:736969 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34403091|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110647 long QT syndrome 5 ISO RGD:736969 D RGD:7240710 20180130 OMIM 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110647 long QT syndrome 5 ISO RGD:736969 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: KCNE1-related condition | ClinVar Annotator: match by term: Long QT syndrome 5 | ClinVar Annotator: match by term: Long QT syndrome 5, acquired, susceptibility to PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:1939241|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32145446|PMID:32344329|PMID:32429735|PMID:32470535|PMID:32508047|PMID:33693037|PMID:34403091|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:0110648 long QT syndrome 6 ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:25640679|PMID:28492532 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24217263|PMID:28492532 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736969 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30461122|PMID:35027292 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:1588 thrombocytopenia ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28166811|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:32429735|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27076034|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32145446|PMID:32164657|PMID:32344329|PMID:32429735|PMID:32470535|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome ISO RGD:736969 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14499862|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19322600|PMID:19340287|PMID:1939241|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21152909|PMID:21244686|PMID:21576493|PMID:21712262|PMID:21854832|PMID:21907427|PMID:21967835|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23382499|PMID:23396983|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24217263|PMID:24314077|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25351510|PMID:25535795|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26467025|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27076034|PMID:27784853|PMID:27871843|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28616568|PMID:28767663|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30079003|PMID:30123799|PMID:30245029|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:30975432|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32145446|PMID:32164657|PMID:32344329|PMID:32429735|PMID:32470535|PMID:34403091|PMID:34426522|PMID:35027292|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:2843 long QT syndrome susceptibility ISO RGD:736969 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D85N(human) PMID:19695459|REF_RGD_ID:11072353 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:4440 seminoma ISO RGD:736969 D RGD:9068941 20200609 RGD PMID:15389592|REF_RGD_ID:1580497 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:6000 congestive heart failure ISO RGD:2956 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (RDO:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:6000 congestive heart failure ISO RGD:736969 D RGD:9068941 20200609 RGD mRNA:increased expression:endocardium of right ventricle: PMID:17384445|REF_RGD_ID:12910696 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:736969 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9000059 Long QT Syndrome 2/5 ISO RGD:736969 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic PMID:10807545|PMID:12402336|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:16132053|PMID:16266404|PMID:16487223|PMID:16823764|PMID:16887036|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:18426444|PMID:19305408|PMID:19695459|PMID:20823649|PMID:21244686|PMID:21712262|PMID:22100668|PMID:22378279|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:25737393|PMID:25741868|PMID:26132555|PMID:26743238|PMID:28003625|PMID:28492532|PMID:29625280|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:32429735|PMID:8899564|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noise induced hearing loss PMID:12402336|PMID:14661677|PMID:14760488|PMID:15599693|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17597962|PMID:18426444|PMID:22581653|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7828904|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:736969 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome PMID:32581362 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9004538 Hearing Loss ISO RGD:736969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:736969 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16155735|PMID:16266404|PMID:16379539|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18776039|PMID:19008479|PMID:19305408|PMID:19340287|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22581653|PMID:23098067|PMID:23124029|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24631775|PMID:24710009|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28018021|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29247119|PMID:29261713|PMID:29625280|PMID:29672598|PMID:29766885|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31308327|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:32429735|PMID:34403091|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9005444 Torsades de Pointes ISO RGD:736969 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.D85N (rs1805128)(human) PMID:22100668|REF_RGD_ID:11066279 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007 sudden infant death syndrome ISO RGD:736969 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532|PMID:30461122|PMID:35027292 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007577 Jervell And Lange-Nielsen Syndrome 2 ISO RGD:736969 D RGD:7240710 20180130 OMIM 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007577 Jervell And Lange-Nielsen Syndrome 2 ISO RGD:736969 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 2 PMID:10400998|PMID:10428953|PMID:10807545|PMID:10973849|PMID:11320260|PMID:11692163|PMID:11874988|PMID:12402336|PMID:12566567|PMID:14661677|PMID:14760488|PMID:15051636|PMID:15599693|PMID:15840476|PMID:16132053|PMID:16266404|PMID:16379539|PMID:16414944|PMID:16487223|PMID:16818210|PMID:16823764|PMID:16887036|PMID:16914890|PMID:16922724|PMID:16945797|PMID:17016049|PMID:17130521|PMID:17161064|PMID:17210839|PMID:17341399|PMID:17545244|PMID:17597962|PMID:18426444|PMID:18752142|PMID:18776039|PMID:19008479|PMID:19214780|PMID:19219384|PMID:19305408|PMID:19340287|PMID:1939241|PMID:19521339|PMID:19695459|PMID:19716085|PMID:19841298|PMID:19862833|PMID:19907016|PMID:20541041|PMID:20823649|PMID:21070882|PMID:21244686|PMID:21576493|PMID:21712262|PMID:22100668|PMID:22166941|PMID:22378279|PMID:22429796|PMID:22471742|PMID:22581653|PMID:22934933|PMID:23098067|PMID:23124029|PMID:23174487|PMID:23510998|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24400172|PMID:24499369|PMID:24561134|PMID:24606995|PMID:24667783|PMID:24710009|PMID:25037568|PMID:25637381|PMID:25650408|PMID:25737393|PMID:25741868|PMID:25916402|PMID:25956966|PMID:25998140|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26220970|PMID:26410412|PMID:26675252|PMID:26715165|PMID:26743238|PMID:26899768|PMID:26926294|PMID:27784853|PMID:28003625|PMID:28176637|PMID:28472724|PMID:28492532|PMID:28767663|PMID:28988457|PMID:29032884|PMID:29625280|PMID:29672598|PMID:30020974|PMID:30123799|PMID:30461122|PMID:30530868|PMID:30847666|PMID:30910390|PMID:31043699|PMID:31308327|PMID:31337358|PMID:31376648|PMID:31447099|PMID:31521807|PMID:31535183|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32164657|PMID:32344329|PMID:32429735|PMID:32470535|PMID:32508047|PMID:34403091|PMID:34426522|PMID:7828904|PMID:8899564|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165|PMID:9834138 8797242 Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 gene DOID:9007820 Sudden Death ISO RGD:736969 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:10400998|PMID:10428953|PMID:10973849|PMID:11320260|PMID:11874988|PMID:12566567|PMID:15840476|PMID:16818210|PMID:19008479|PMID:19340287|PMID:19521339|PMID:19716085|PMID:22166941|PMID:22581653|PMID:23124029|PMID:23510998|PMID:23631430|PMID:24033266|PMID:24400172|PMID:24561134|PMID:24606995|PMID:25637381|PMID:25741868|PMID:26187847|PMID:28176637|PMID:28492532|PMID:30847666|PMID:31447099|PMID:31737537|PMID:31835641|PMID:31941373|PMID:32058015|PMID:32344329|PMID:9328483|PMID:9354783|PMID:9354802|PMID:9445165 8797248 Acbd5 acyl-CoA binding domain containing 5 gene DOID:0050572 cone-rod dystrophy ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:28492532 8797248 Acbd5 acyl-CoA binding domain containing 5 gene DOID:0080946 retinal dystrophy with leukodystrophy ISO RGD:1319743 D RGD:7240710 20200819 OMIM 8797248 Acbd5 acyl-CoA binding domain containing 5 gene DOID:0080946 retinal dystrophy with leukodystrophy ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy with leukodystrophy PMID:23105016|PMID:25741868|PMID:28492532 8797248 Acbd5 acyl-CoA binding domain containing 5 gene DOID:1588 thrombocytopenia ISO RGD:1319743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532 8797248 Acbd5 acyl-CoA binding domain containing 5 gene DOID:630 genetic disease ISO RGD:1319743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8797248 Acbd5 acyl-CoA binding domain containing 5 gene DOID:9003390 Thrombocytopenia 2 ISO RGD:1319743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 2 PMID:25741868|PMID:28492532 8797248 Acbd5 acyl-CoA binding domain containing 5 gene DOID:9005280 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities ISO RGD:1319743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities PMID:25741868 8797248 Acbd5 acyl-CoA binding domain containing 5 gene DOID:906 peroxisomal disease ISO RGD:1319744 D RGD:9068941 20220825 MouseDO 8797280 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8797280 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:1459 hypothyroidism ISO RGD:3252 D RGD:9068941 20200609 RGD mRNA:increased stability:pituitary gland PMID:8940376|REF_RGD_ID:2302427 8797280 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:2030 anxiety disorder ISO RGD:735807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19815072 8797280 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:2526 prostate adenocarcinoma ISO RGD:735807 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:11221851|REF_RGD_ID:6483769 8797280 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:630 genetic disease ISO RGD:735807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797280 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9002221 Hyperplasia ISO RGD:3252 D RGD:9068941 20200609 RGD protein:increased expression:lung, alveolus (rat) PMID:11742033|REF_RGD_ID:6483575 8797280 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9002457 Experimental Arthritis ISO RGD:3252 D RGD:9068941 20200609 RGD PMID:17138865|REF_RGD_ID:6483527 8797280 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8797280 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9004756 Brain Hypoxia ISO RGD:3252 D RGD:9068941 20200609 RGD protein:increased activity:brain stem (rat) PMID:18818385|REF_RGD_ID:6483514 8797280 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8797280 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8797280 Pam peptidylglycine alpha-amidating monooxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24464100|PMID:30054598 8797314 Epb41l2 erythrocyte membrane protein band 4.1 like 2 gene DOID:630 genetic disease ISO RGD:1348118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797314 Epb41l2 erythrocyte membrane protein band 4.1 like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8797341 Egln2 egl-9 family hypoxia inducible factor 2 gene DOID:0050742 nicotine dependence ISO RGD:736328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418890 8797341 Egln2 egl-9 family hypoxia inducible factor 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8797341 Egln2 egl-9 family hypoxia inducible factor 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8797341 Egln2 egl-9 family hypoxia inducible factor 2 gene DOID:2340 craniosynostosis ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8797341 Egln2 egl-9 family hypoxia inducible factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:736328 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20978146|REF_RGD_ID:13504705 8797341 Egln2 egl-9 family hypoxia inducible factor 2 gene DOID:630 genetic disease ISO RGD:736328 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8797341 Egln2 egl-9 family hypoxia inducible factor 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8797341 Egln2 egl-9 family hypoxia inducible factor 2 gene DOID:9269 maple syrup urine disease ISO RGD:736328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8797369 Nmu neuromedin U gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:68564 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 8797369 Nmu neuromedin U gene DOID:630 genetic disease ISO RGD:68564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797369 Nmu neuromedin U gene DOID:9970 obesity ISO RGD:68388 D RGD:9068941 20200609 RGD PMID:17706946|REF_RGD_ID:1642093 8797369 Nmu neuromedin U gene DOID:9970 obesity ISO RGD:68565 D RGD:9068941 20200609 RGD PMID:15448684|REF_RGD_ID:1642095 8797369 Nmu neuromedin U gene DOID:9970 obesity susceptibility ISO RGD:68564 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.R165W,p.A19E PMID:16984985|REF_RGD_ID:1642094 8797383 LOC102003847 NADH-cytochrome b5 reductase-like gene DOID:630 genetic disease ISO RGD:2302325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797403 Hnrnpa3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1343696 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8797403 Hnrnpa3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:10325 silicosis ISO RGD:727807 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19534998|REF_RGD_ID:10059658 8797403 Hnrnpa3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:5419 schizophrenia ISO RGD:1343696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 8797403 Hnrnpa3 heterogeneous nuclear ribonucleoprotein A3 gene DOID:630 genetic disease ISO RGD:1343696 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797424 Myh2 myosin heavy chain 2 gene DOID:0080719 congenital myopathy 6 ISO RGD:1347033 D RGD:7240710 20180221 OMIM 8797424 Myh2 myosin heavy chain 2 gene DOID:0080719 congenital myopathy 6 ISO RGD:1347033 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 6 WITH OPHTHALMOPLEGIA | ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:11114175|PMID:11889243|PMID:15548556|PMID:15741996|PMID:16130113|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:20418530|PMID:22349865|PMID:22406018|PMID:23388406|PMID:23489661|PMID:24033266|PMID:24193343|PMID:25617006|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29934118|PMID:31127727|PMID:31321302|PMID:31407473|PMID:32578970|PMID:33250842|PMID:34459418|PMID:35239206|PMID:9536098 8797424 Myh2 myosin heavy chain 2 gene DOID:3429 inclusion body myositis ISO RGD:1347033 D RGD:9068941 20230615 RGD IBM3, OMIM:605637, DNA:point mutation:exon:E706K PMID:11114175|REF_RGD_ID:1600532 8797424 Myh2 myosin heavy chain 2 gene DOID:423 myopathy ISO RGD:1347033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 8797424 Myh2 myosin heavy chain 2 gene DOID:630 genetic disease ISO RGD:1347033 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34459418 8797424 Myh2 myosin heavy chain 2 gene DOID:9884 muscular dystrophy ISO RGD:1347033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868 8797466 Igf2 insulin like growth factor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:20683203|REF_RGD_ID:5509948 8797466 Igf2 insulin like growth factor 2 gene DOID:0050589 inflammatory bowel disease disease_progression ISO RGD:737149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12548059|REF_RGD_ID:5509968 8797466 Igf2 insulin like growth factor 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8797466 Igf2 insulin like growth factor 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16092956 8797466 Igf2 insulin like growth factor 2 gene DOID:0080006 bone development disease ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9349812 8797466 Igf2 insulin like growth factor 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:19207313|REF_RGD_ID:12910858 8797466 Igf2 insulin like growth factor 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:737149 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8797466 Igf2 insulin like growth factor 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8797466 Igf2 insulin like growth factor 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8797466 Igf2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:10770 D RGD:9068941 20200609 RGD PMID:24887203|REF_RGD_ID:10045934 8797466 Igf2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:16627931|REF_RGD_ID:5509963 8797466 Igf2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15750215 8797466 Igf2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:24685003|REF_RGD_ID:10402559 8797466 Igf2 insulin like growth factor 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10770 D RGD:9068941 20200609 RGD PMID:21040071|REF_RGD_ID:10402558 8797466 Igf2 insulin like growth factor 2 gene DOID:11476 osteoporosis treatment ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:12162999|REF_RGD_ID:10402555 8797466 Igf2 insulin like growth factor 2 gene DOID:12217 Lewy body dementia ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8797466 Igf2 insulin like growth factor 2 gene DOID:12217 Lewy body dementia ISO RGD:737149 D RGD:9068941 20200609 RGD mRNA:decreased expression:frontal cortex PMID:19276553|REF_RGD_ID:5129515 8797466 Igf2 insulin like growth factor 2 gene DOID:12849 autistic disorder ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 8797466 Igf2 insulin like growth factor 2 gene DOID:14183 alcoholic neuropathy ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:23016131|REF_RGD_ID:10402569 8797466 Igf2 insulin like growth factor 2 gene DOID:14330 Parkinson's disease ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8797466 Igf2 insulin like growth factor 2 gene DOID:14330 Parkinson's disease ISO RGD:737149 D RGD:9068941 20200609 RGD mRNA:decreased expression:frontal cortex PMID:19276553|REF_RGD_ID:5129515 8797466 Igf2 insulin like growth factor 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8797466 Igf2 insulin like growth factor 2 gene DOID:14681 Silver-Russell syndrome ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19066168 8797466 Igf2 insulin like growth factor 2 gene DOID:1561 cognitive disorder ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21270887 8797466 Igf2 insulin like growth factor 2 gene DOID:1574 alcohol use disorder ISO RGD:737149 D RGD:9068941 20231221 RGD protein:decreased expression:plasma (human) PMID:30277635|REF_RGD_ID:401938665 8797466 Igf2 insulin like growth factor 2 gene DOID:1612 breast cancer ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:18719053|REF_RGD_ID:2311512 8797466 Igf2 insulin like growth factor 2 gene DOID:1657 ventricular septal defect treatment ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:21238444|REF_RGD_ID:13204804 8797466 Igf2 insulin like growth factor 2 gene DOID:1936 atherosclerosis ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11726660 8797466 Igf2 insulin like growth factor 2 gene DOID:2154 nephroblastoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8252039 8797466 Igf2 insulin like growth factor 2 gene DOID:2355 anemia ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12090760 8797466 Igf2 insulin like growth factor 2 gene DOID:2377 multiple sclerosis ISO RGD:737149 D RGD:9068941 20200609 RGD protein:increased expression:macrophage PMID:10417663|REF_RGD_ID:5510017 8797466 Igf2 insulin like growth factor 2 gene DOID:3247 rhabdomyosarcoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7981680 8797466 Igf2 insulin like growth factor 2 gene DOID:3454 brain infarction ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:7770004|REF_RGD_ID:5509999 8797466 Igf2 insulin like growth factor 2 gene DOID:3594 choriocarcinoma disease_progression ISO RGD:737149 D RGD:9068941 20200609 RGD protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR PMID:17556377|REF_RGD_ID:2290454 8797466 Igf2 insulin like growth factor 2 gene DOID:3827 congenital diaphragmatic hernia treatment ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:24352370|REF_RGD_ID:10402563 8797466 Igf2 insulin like growth factor 2 gene DOID:3948 adrenocortical carcinoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21521927|PMID:23417626 8797466 Igf2 insulin like growth factor 2 gene DOID:4752 multiple system atrophy severity ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:20683839|REF_RGD_ID:5509960 8797466 Igf2 insulin like growth factor 2 gene DOID:5082 liver cirrhosis severity ISO RGD:737149 D RGD:9068941 20200609 RGD associated with non-alcoholic fatty liver disease;protein:decreased expression:plasma PMID:28650518|REF_RGD_ID:14401722 8797466 Igf2 insulin like growth factor 2 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:737149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:25741868 8797466 Igf2 insulin like growth factor 2 gene DOID:630 genetic disease ISO RGD:737149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28848601|PMID:29073591 8797466 Igf2 insulin like growth factor 2 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737149 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:11232005|REF_RGD_ID:5509969 8797466 Igf2 insulin like growth factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:17554210|REF_RGD_ID:2311523 8797466 Igf2 insulin like growth factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12532445|PMID:16092956 8797466 Igf2 insulin like growth factor 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737149 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNPs:intron, 3'utr:+2482A>C, +820A>G (human) PMID:16750516|REF_RGD_ID:14401723 8797466 Igf2 insulin like growth factor 2 gene DOID:687 hepatoblastoma ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23958494 8797466 Igf2 insulin like growth factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:737149 D RGD:9068941 20200609 RGD DNA:loss of imprinting:synovial cell PMID:19556211|REF_RGD_ID:5510001 8797466 Igf2 insulin like growth factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:737149 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:11247331|REF_RGD_ID:5510014 8797466 Igf2 insulin like growth factor 2 gene DOID:77 gastrointestinal system disease ISO RGD:737149 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16477536|REF_RGD_ID:5509964 8797466 Igf2 insulin like growth factor 2 gene DOID:780 placenta disease ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087403 8797466 Igf2 insulin like growth factor 2 gene DOID:8398 osteoarthritis ISO RGD:737149 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:22527881|REF_RGD_ID:10402552 8797466 Igf2 insulin like growth factor 2 gene DOID:8488 polyhydramnios ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9349812 8797466 Igf2 insulin like growth factor 2 gene DOID:8577 ulcerative colitis disease_progression ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:16088202|REF_RGD_ID:5509966 8797466 Igf2 insulin like growth factor 2 gene DOID:9000310 Lung Injury ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:9160836|REF_RGD_ID:5509974 8797466 Igf2 insulin like growth factor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18421211|REF_RGD_ID:2292665 8797466 Igf2 insulin like growth factor 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:11213353|REF_RGD_ID:5509971 8797466 Igf2 insulin like growth factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10770 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental; protein:increased expression:lung, bone, serum: PMID:21859454|REF_RGD_ID:5510000 8797466 Igf2 insulin like growth factor 2 gene DOID:9000998 Brain Injuries ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:11123717|REF_RGD_ID:5509972 8797466 Igf2 insulin like growth factor 2 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18505416|REF_RGD_ID:5510002 8797466 Igf2 insulin like growth factor 2 gene DOID:9001586 Experimental Liver Neoplasms treatment ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:22425635|REF_RGD_ID:10402567 8797466 Igf2 insulin like growth factor 2 gene DOID:9002163 Silver-Russell Syndrome 3 ISO RGD:737149 D RGD:7240710 20180130 OMIM 8797466 Igf2 insulin like growth factor 2 gene DOID:9002163 Silver-Russell Syndrome 3 ISO RGD:737149 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3 PMID:25741868|PMID:26154720|PMID:28492532|PMID:28848601|PMID:30152198|PMID:30400067 8797466 Igf2 insulin like growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2870 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; mRNA:decreased expression:neural tissue, liver: PMID:9336345|REF_RGD_ID:5510019 8797466 Igf2 insulin like growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2870 D RGD:9068941 20200609 RGD associates with Diabetes Mellitus; mRNA:decreased expression:brain: PMID:8764603|REF_RGD_ID:5510022 8797466 Igf2 insulin like growth factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737149 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:9336345|REF_RGD_ID:5510019 8797466 Igf2 insulin like growth factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:altered expresssion:liver,placenta: PMID:1408464|REF_RGD_ID:14985247 8797466 Igf2 insulin like growth factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087403|PMID:16040806 8797466 Igf2 insulin like growth factor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15057734 8797466 Igf2 insulin like growth factor 2 gene DOID:9002955 Nerve Degeneration ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24667322 8797466 Igf2 insulin like growth factor 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8797466 Igf2 insulin like growth factor 2 gene DOID:9003676 Brain Hypoxia-Ischemia disease_progression ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:16787587|REF_RGD_ID:5510005 8797466 Igf2 insulin like growth factor 2 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:737149 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple PMID:16750516|REF_RGD_ID:14401723 8797466 Igf2 insulin like growth factor 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8797466 Igf2 insulin like growth factor 2 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:16753016|REF_RGD_ID:10402556 8797466 Igf2 insulin like growth factor 2 gene DOID:9004994 Embryo Loss ISO RGD:2870 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:18778817|REF_RGD_ID:5509951 8797466 Igf2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10770 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression PMID:18724775|REF_RGD_ID:2311511 8797466 Igf2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10770 D RGD:9068941 20200609 RGD protein:increased expression:oviduct PMID:18676006|REF_RGD_ID:2311502 8797466 Igf2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:10686593|REF_RGD_ID:5509973 8797466 Igf2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2870 D RGD:9068941 20200609 RGD protein:increased expression:multiple PMID:17184497|REF_RGD_ID:2311513 8797466 Igf2 insulin like growth factor 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:737149 D RGD:9068941 20200609 RGD PMID:23364485|REF_RGD_ID:10402565 8797466 Igf2 insulin like growth factor 2 gene DOID:9005834 Ependymomas ISO RGD:737149 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebellum PMID:18478565|REF_RGD_ID:5509961 8797466 Igf2 insulin like growth factor 2 gene DOID:9006257 Growth Disorders ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9349812 8797466 Igf2 insulin like growth factor 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:2870 D RGD:9068941 20200609 RGD DNA:insertion PMID:18418699|REF_RGD_ID:2311520 8797466 Igf2 insulin like growth factor 2 gene DOID:9006925 Hepatic Echinococcosis ISO RGD:737149 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:12927688|REF_RGD_ID:5509967 8797466 Igf2 insulin like growth factor 2 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 8797466 Igf2 insulin like growth factor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12127304 8797466 Igf2 insulin like growth factor 2 gene DOID:9008023 Memory Disorders ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21270887 8797466 Igf2 insulin like growth factor 2 gene DOID:9008023 Memory Disorders treatment ISO RGD:2870 D RGD:9068941 20200609 RGD PMID:24012657|REF_RGD_ID:10402554 8797466 Igf2 insulin like growth factor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12637750 8797466 Igf2 insulin like growth factor 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10370016 8797466 Igf2 insulin like growth factor 2 gene DOID:9256 colorectal cancer ISO RGD:737149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8797466 Igf2 insulin like growth factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10770 D RGD:9068941 20200609 RGD PMID:10727441|REF_RGD_ID:5510004 8797466 Igf2 insulin like growth factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2870 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:17476475|REF_RGD_ID:2311504 8797466 Igf2 insulin like growth factor 2 gene DOID:9471 meningitis ISO RGD:737149 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:7521338|REF_RGD_ID:5510023 8797466 Igf2 insulin like growth factor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2870 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:thymus PMID:11307180|REF_RGD_ID:5510007 8797466 Igf2 insulin like growth factor 2 gene DOID:9970 obesity ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11528401 8797466 Igf2 insulin like growth factor 2 gene DOID:9993 hypoglycemia ISO RGD:737149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3185662 8797486 Nelfe negative elongation factor complex member E gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1344973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8797486 Nelfe negative elongation factor complex member E gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1344973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 8797486 Nelfe negative elongation factor complex member E gene DOID:630 genetic disease ISO RGD:1344973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797503 Eri1 exoribonuclease 1 gene DOID:13938 amenorrhea ISO RGD:1605015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8797503 Eri1 exoribonuclease 1 gene DOID:630 genetic disease ISO RGD:1605015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797503 Eri1 exoribonuclease 1 gene DOID:9002288 Hoxha-Aliu syndrome ISO RGD:1605015 D RGD:7240710 20240306 OMIM 8797503 Eri1 exoribonuclease 1 gene DOID:9002288 Hoxha-Aliu syndrome ISO RGD:1605015 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Hoxha-Aliu syndrome PMID:36208065|PMID:37352860 8797503 Eri1 exoribonuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8797503 Eri1 exoribonuclease 1 gene DOID:9005650 Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type ISO RGD:1605015 D RGD:7240710 20240124 OMIM 8797503 Eri1 exoribonuclease 1 gene DOID:9005650 Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type ISO RGD:1605015 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ERI1-associated disorder PMID:37352860 8797503 Eri1 exoribonuclease 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8797517 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1319021 D RGD:7240710 20190315 OMIM 8797517 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:0080448 developmental and epileptic encephalopathy 48 ISO RGD:1319021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 PMID:17576681|PMID:18414213|PMID:25741868|PMID:27431290|PMID:27889060|PMID:28492532|PMID:9536098 8797517 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:1059 intellectual disability ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8797517 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:10907 microcephaly ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8797517 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:12849 autistic disorder ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532 8797517 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:13938 amenorrhea ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8797517 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:1826 epilepsy ISO RGD:1319021 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8797517 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:2717 Bloom syndrome ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8797517 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:630 genetic disease ISO RGD:1319021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8797517 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:27889060 8797517 Ap3b2 adaptor related protein complex 3 subunit beta 2 gene DOID:9256 colorectal cancer ISO RGD:1319021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:10652 Alzheimer's disease ISO RGD:62277 D RGD:9068941 20200609 RGD DNA: deletion: exons 7,8: heterozygote PMID:18522748|REF_RGD_ID:5688375 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:10763 hypertension ISO RGD:61985 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, kidney (rat) PMID:26248277|REF_RGD_ID:11535540 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:1287 cardiovascular system disease ISO RGD:1348499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26032411 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:14330 Parkinson's disease ISO RGD:1348499 D RGD:9068941 20200609 RGD protein: decreased expression: brain PMID:17125886|REF_RGD_ID:5688384 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:14330 Parkinson's disease ISO RGD:61985 D RGD:9068941 20200609 RGD protein: decreased expression: brain PMID:17996024|REF_RGD_ID:5685370 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:14330 Parkinson's disease no_association ISO RGD:1348499 D RGD:9068941 20211126 RGD DNA: snps: :rs871196, rs2420616, rs7069375, rs4752293 PMID:21184589|REF_RGD_ID:5688382 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:2320 obstructive lung disease ISO RGD:62277 D RGD:9068941 20200609 RGD PMID:14565944|REF_RGD_ID:5688385 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:409 liver disease ISO RGD:1348499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:6000 congestive heart failure ISO RGD:1348499 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:26248277|REF_RGD_ID:11535540 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:6000 congestive heart failure severity ISO RGD:1348499 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle (human) PMID:22685168|REF_RGD_ID:13506835 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:630 genetic disease ISO RGD:1348499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1348499 D RGD:9068941 20200609 RGD protein: : mononuclear blood cells PMID:10094932|REF_RGD_ID:5688380 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:62277 D RGD:9068941 20200609 RGD DNA: deletion::GRK2 and GRK6 deletions resulted in more severe arthritis PMID:18662895|REF_RGD_ID:5688373 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:9004484 Sepsis ISO RGD:1348499 D RGD:9068941 20200609 RGD protein: increased expression: neutrophils PMID:16849637|REF_RGD_ID:5688378 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:9005372 Inflammation ISO RGD:62277 D RGD:9068941 20200609 RGD DNA: deletions PMID:20945396|REF_RGD_ID:5688355 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348499 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:23727505|REF_RGD_ID:13792719 8797552 Grk5 G protein-coupled receptor kinase 5 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:1348499 D RGD:9068941 20200609 RGD DNA: SNP: rs12415832 PMID:22074755|REF_RGD_ID:5688353 8797575 Cldn9 claudin 9 gene DOID:0050563 nonsyndromic deafness ISO RGD:1319096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25741868 8797575 Cldn9 claudin 9 gene DOID:0060744 Pendred syndrome ISO RGD:1319096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:30311386|PMID:35802133|PMID:36633841 8797575 Cldn9 claudin 9 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8797575 Cldn9 claudin 9 gene DOID:0112162 autosomal recessive nonsyndromic deafness 116 ISO RGD:1319096 D RGD:7240710 20201202 OMIM 8797575 Cldn9 claudin 9 gene DOID:0112162 autosomal recessive nonsyndromic deafness 116 ISO RGD:1319096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 116 PMID:25741868|PMID:30311386|PMID:31175426|PMID:35802133|PMID:36633841 8797575 Cldn9 claudin 9 gene DOID:1826 epilepsy ISO RGD:1319096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8797575 Cldn9 claudin 9 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319096 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8797575 Cldn9 claudin 9 gene DOID:630 genetic disease ISO RGD:1319096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797575 Cldn9 claudin 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8797575 Cldn9 claudin 9 gene DOID:9004538 Hearing Loss ISO RGD:1319096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:25741868|PMID:30311386|PMID:31175426 8797586 Lap3 leucine aminopeptidase 3 gene DOID:0080600 COVID-19 ISO RGD:1317491 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8797586 Lap3 leucine aminopeptidase 3 gene DOID:630 genetic disease ISO RGD:1317491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797586 Lap3 leucine aminopeptidase 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8797631 Dut deoxyuridine triphosphatase gene DOID:14323 Marfan syndrome ISO RGD:1349758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 8797631 Dut deoxyuridine triphosphatase gene DOID:2717 Bloom syndrome ISO RGD:1349758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8797631 Dut deoxyuridine triphosphatase gene DOID:630 genetic disease ISO RGD:1349758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797631 Dut deoxyuridine triphosphatase gene DOID:9002189 High Myopia ISO RGD:1349758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8797631 Dut deoxyuridine triphosphatase gene DOID:9007502 Brain Neoplasms severity ISO RGD:1349758 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:16325515|REF_RGD_ID:5133680 8797631 Dut deoxyuridine triphosphatase gene DOID:9009085 Bone Marrow Failure and Diabetes Mellitus Syndrome ISO RGD:1349758 D RGD:7240710 20221116 OMIM 8797631 Dut deoxyuridine triphosphatase gene DOID:9009085 Bone Marrow Failure and Diabetes Mellitus Syndrome ISO RGD:1349758 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Bone marrow failure and diabetes mellitus syndrome PMID:28073829|PMID:35611808|PMID:35931051|PMID:9548420 8797631 Dut deoxyuridine triphosphatase gene DOID:9256 colorectal cancer ISO RGD:1349758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8797648 Clstn3 calsyntenin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8797648 Clstn3 calsyntenin 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8797648 Clstn3 calsyntenin 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8797648 Clstn3 calsyntenin 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8797648 Clstn3 calsyntenin 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8797648 Clstn3 calsyntenin 3 gene DOID:0111621 Temtamy syndrome ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8797648 Clstn3 calsyntenin 3 gene DOID:630 genetic disease ISO RGD:732033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797648 Clstn3 calsyntenin 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8797676 Pear1 platelet endothelial aggregation receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1642918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8797676 Pear1 platelet endothelial aggregation receptor 1 gene DOID:630 genetic disease ISO RGD:1642918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797676 Pear1 platelet endothelial aggregation receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1642918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8797716 Lonrf3 LON peptidase N-terminal domain and ring finger 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8797716 Lonrf3 LON peptidase N-terminal domain and ring finger 3 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1351493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8797716 Lonrf3 LON peptidase N-terminal domain and ring finger 3 gene DOID:12849 autistic disorder ISO RGD:1351493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8797716 Lonrf3 LON peptidase N-terminal domain and ring finger 3 gene DOID:630 genetic disease ISO RGD:1351493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797755 Coch cochlin gene DOID:0050439 Usher syndrome ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:30311386 8797755 Coch cochlin gene DOID:0050563 nonsyndromic deafness ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10400989|PMID:11332404|PMID:14512963|PMID:16151338|PMID:16481359|PMID:19161137|PMID:24033266|PMID:24662630|PMID:25230692|PMID:28492532|PMID:28733840|PMID:30311386|PMID:9931344 8797755 Coch cochlin gene DOID:0110593 autosomal dominant nonsyndromic deafness 9 ISO RGD:1318365 D RGD:7240710 20180130 OMIM 8797755 Coch cochlin gene DOID:0110593 autosomal dominant nonsyndromic deafness 9 ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 9 PMID:10400989|PMID:11332404|PMID:12928864|PMID:14512963|PMID:16151338|PMID:16261627|PMID:16481359|PMID:18312449|PMID:19161137|PMID:22534022|PMID:24033266|PMID:24662630|PMID:25230692|PMID:25741868|PMID:25780252|PMID:26467025|PMID:28492532|PMID:28733840|PMID:30311386|PMID:8817345|PMID:9806553|PMID:9931344 8797755 Coch cochlin gene DOID:0111644 autosomal recessive nonsyndromic deafness 110 ISO RGD:1318365 D RGD:7240710 20200129 OMIM 8797755 Coch cochlin gene DOID:0111644 autosomal recessive nonsyndromic deafness 110 ISO RGD:1318365 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 110 PMID:24033266|PMID:25230692|PMID:25741868|PMID:28492532|PMID:29449721|PMID:31126177 8797755 Coch cochlin gene DOID:10003 sensorineural hearing loss ISO RGD:1318365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:16261627|PMID:19461658|PMID:25780252|PMID:28492532|PMID:30311386|PMID:34652575 8797755 Coch cochlin gene DOID:630 genetic disease ISO RGD:1318365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8797755 Coch cochlin gene DOID:9004538 Hearing Loss ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10400989|PMID:11332404|PMID:16151338|PMID:16481359|PMID:19161137|PMID:24033266|PMID:24662630|PMID:28733840|PMID:30311386|PMID:9931344 8797755 Coch cochlin gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318365 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8797755 Coch cochlin gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1318365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 8797755 Coch cochlin gene DOID:9008681 Deafness susceptibility ISO RGD:1318365 D RGD:9068941 20200609 RGD deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations PMID:9806553|REF_RGD_ID:1600878 8797777 Htr5a 5-hydroxytryptamine receptor 5A gene DOID:0110875 holoprosencephaly 3 ISO RGD:735325 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 8797777 Htr5a 5-hydroxytryptamine receptor 5A gene DOID:10283 prostate cancer ISO RGD:735325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8797777 Htr5a 5-hydroxytryptamine receptor 5A gene DOID:12849 autistic disorder ISO RGD:735325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8797777 Htr5a 5-hydroxytryptamine receptor 5A gene DOID:630 genetic disease ISO RGD:735325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797777 Htr5a 5-hydroxytryptamine receptor 5A gene DOID:9428 intracranial hypertension ISO RGD:735325 D RGD:9068941 20230727 RGD mRNA:increased expression:neocortex,Pyramidal cells (human) PMID:27487831|REF_RGD_ID:329969876 8797788 Wtap WT1 associated protein gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1321461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8797788 Wtap WT1 associated protein gene DOID:630 genetic disease ISO RGD:1321461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797806 Coro1b coronin 1B gene DOID:1059 intellectual disability ISO RGD:736068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8797806 Coro1b coronin 1B gene DOID:630 genetic disease ISO RGD:736068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797806 Coro1b coronin 1B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8797806 Coro1b coronin 1B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8797830 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1344271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:18285821|PMID:28492532 8797830 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:1909 melanoma ISO RGD:1344271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17187358 8797830 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:5419 schizophrenia ISO RGD:1344271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8797830 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:607 paraplegia ISO RGD:1344271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8797830 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:630 genetic disease ISO RGD:1344271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797830 Tnfrsf19 TNF receptor superfamily member 19 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1344271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20512145 8797851 Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1318614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8797851 Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:1059 intellectual disability ISO RGD:1318614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8797851 Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:3070 high grade glioma ISO RGD:1318614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8797851 Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 gene DOID:630 genetic disease ISO RGD:1318614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797876 Cog7 component of oligomeric golgi complex 7 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1349178 D RGD:7240710 20180130 OMIM 8797876 Cog7 component of oligomeric golgi complex 7 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1349178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2E PMID:15107842|PMID:16199547|PMID:17356545|PMID:17395513|PMID:17576681|PMID:19577670|PMID:21811164|PMID:25741868|PMID:25741869|PMID:28492532|PMID:30653653|PMID:31785789|PMID:9536098 8797876 Cog7 component of oligomeric golgi complex 7 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 8797876 Cog7 component of oligomeric golgi complex 7 gene DOID:630 genetic disease ISO RGD:1349178 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:21811164|PMID:25741868|PMID:28492532|PMID:30653653|PMID:9536098 8797876 Cog7 component of oligomeric golgi complex 7 gene DOID:630 genetic disease susceptibility ISO RGD:1349178 D RGD:9068941 20200609 RGD congenital disorder of glycosylation, type IIe, OMIM:608779;DNA:transversion:intron:IVS1+4A>C PMID:15107842|REF_RGD_ID:1600879 8797907 Ccdc172 coiled-coil domain containing 172 gene DOID:0050778 Meckel syndrome ISO RGD:1346141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 8797907 Ccdc172 coiled-coil domain containing 172 gene DOID:630 genetic disease ISO RGD:1346141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:0050746 mantle cell lymphoma ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18787224 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:70982 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26970304|REF_RGD_ID:13792771 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:0050861 colorectal adenocarcinoma ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:21609933|REF_RGD_ID:13210767 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:733891 D RGD:9068941 20211217 RGD DNA:SNP:intron: (rs9879992) (human) PMID:21393552|REF_RGD_ID:150530486 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22982863|REF_RGD_ID:10045670 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17409235|PMID:22944069 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733891 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs334558 (human) PMID:19154537|REF_RGD_ID:13782364 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733891 D RGD:9068941 20200609 RGD DNA:altered methylation:CpG island: PMID:24101602|REF_RGD_ID:10045668 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:11226152|REF_RGD_ID:1302533 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27893738|PMID:29257340|REF_RGD_ID:13792736|REF_RGD_ID:13792777 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:22623685|REF_RGD_ID:10401801 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:733892 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:hippocampus: PMID:22048123|REF_RGD_ID:10045669 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:10763 hypertension ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22982863 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:10763 hypertension treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22982863|REF_RGD_ID:10045670 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:11054 urinary bladder cancer ISO RGD:733891 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:114 heart disease treatment ISO RGD:70982 D RGD:9068941 20200609 RGD associated with hypertension PMID:28440874|REF_RGD_ID:13792734 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:11446 sciatic neuropathy ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27125978|REF_RGD_ID:13792740 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:12930 dilated cardiomyopathy ISO RGD:733891 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:14330 Parkinson's disease treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:23094836|REF_RGD_ID:10045553 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:1561 cognitive disorder ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24634145 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:1596 depressive disorder ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357757|PMID:20534517 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:1596 depressive disorder treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:19815943|REF_RGD_ID:10045564 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:1824 status epilepticus treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22761705|REF_RGD_ID:10045560 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:219 colon cancer treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22561258|REF_RGD_ID:10045586 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:2871 endometrial carcinoma severity ISO RGD:733891 D RGD:9068941 20200609 RGD protein:increased expression:endometrium (human) PMID:27050373|REF_RGD_ID:13524565 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:3021 acute kidney failure ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22785175 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:303 substance-related disorder treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:30188517|REF_RGD_ID:13792724 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:3312 bipolar disorder ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357757 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:3312 bipolar disorder ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:16397405|PMID:17357145|REF_RGD_ID:1641929|REF_RGD_ID:1641931 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:12675919|REF_RGD_ID:2301741 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:28440874|REF_RGD_ID:13792734 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:70982 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:brain: PMID:12644246|REF_RGD_ID:10045563 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14745448|PMID:31563592 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:16397405|REF_RGD_ID:1641931 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid (human) PMID:15254796|REF_RGD_ID:1358650 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:5419 schizophrenia ISO RGD:733891 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:frontal cortex PMID:14745448|REF_RGD_ID:1358369 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:5844 myocardial infarction ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16716347 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:5844 myocardial infarction treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:16565311|REF_RGD_ID:10045368 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:6000 congestive heart failure ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901358 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:630 genetic disease ISO RGD:733891 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:680 tauopathy ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26945731 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:767 muscular atrophy ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18467435 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:8283 peritonitis ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16713974 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:8725 vascular dementia treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27118553|REF_RGD_ID:13792766 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:90 degenerative disc disease ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:29393545|REF_RGD_ID:13792726 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9000046 Poisoning ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22975441 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27026509|REF_RGD_ID:13792767 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9000998 Brain Injuries ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:22643085|REF_RGD_ID:10045646 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9000998 Brain Injuries ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24675465 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:70982 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease PMID:28807209|REF_RGD_ID:13792730 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:26888388|REF_RGD_ID:13792773 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002245 Intestinal Neoplasms treatment ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:24670930|REF_RGD_ID:13210772 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16421604|PMID:25246272 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002457 Experimental Arthritis ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16713974 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002554 Tachycardia treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:28446231|REF_RGD_ID:13792733 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:733891 D RGD:9068941 20200609 RGD protein:increased expression:ovary (human) PMID:22455883|REF_RGD_ID:13441553 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002928 Colonic Neoplasms disease_progression ISO RGD:733891 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:23389968|REF_RGD_ID:13210769 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:733891 D RGD:9068941 20200609 RGD PMID:23729362|REF_RGD_ID:13210765 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9003936 Cardiomegaly ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:19318234|REF_RGD_ID:10045585 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9003936 Cardiomegaly ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901358 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9004484 Sepsis ISO RGD:70982 D RGD:9068941 20200609 RGD protein:decreased phosphorylation,increased activity: : PMID:20926980|REF_RGD_ID:10045370 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:19666099|REF_RGD_ID:10045579 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9005100 Aberrant Crypt Foci treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:23554136|REF_RGD_ID:13210771 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:28810530|REF_RGD_ID:13792729 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9007653 Multiple Abnormalities ISO RGD:733891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22975441 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9007715 Endometrial Neoplasms treatment ISO RGD:733891 D RGD:9068941 20200609 RGD human cells in a mouse xenograft model PMID:23941783|REF_RGD_ID:13441554 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9007730 Burns ISO RGD:70982 D RGD:9068941 20200609 RGD protein:increased activity,altered phosphorylation:skeletal muscle: PMID:17686886|REF_RGD_ID:10045647 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:20217242|PMID:26918336|PMID:29978610|REF_RGD_ID:13792725|REF_RGD_ID:13792772|REF_RGD_ID:5509104 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:70982 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:26997328|REF_RGD_ID:13792768 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9008939 Breast Neoplasms ISO RGD:733891 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35639300 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:733892 D RGD:9068941 20200609 RGD PMID:20821187|REF_RGD_ID:10045562 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:27164497|REF_RGD_ID:13792739 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:70982 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8797936 Gsk3b glycogen synthase kinase 3 beta gene DOID:9408 acute myocardial infarction treatment ISO RGD:70982 D RGD:9068941 20200609 RGD PMID:26591365|REF_RGD_ID:13792778 8797975 Pax9 paired box 9 gene DOID:0050591 tooth agenesis ISO RGD:1352334 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis PMID:14607846|PMID:16236760|PMID:16479262|PMID:25741868|PMID:28492532|PMID:29969831 8797975 Pax9 paired box 9 gene DOID:12859 choreatic disease ISO RGD:1352334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 8797975 Pax9 paired box 9 gene DOID:13714 anodontia ISO RGD:1352334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:11827258|PMID:12605438|PMID:14571272|PMID:14607846|PMID:16236760|PMID:16479262|PMID:19429910|PMID:22581971|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28910570 8797975 Pax9 paired box 9 gene DOID:630 genetic disease ISO RGD:1352334 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 8797975 Pax9 paired box 9 gene DOID:674 cleft palate ISO RGD:733158 D RGD:9068941 20200609 RGD PMID:17097601|REF_RGD_ID:12801424 8797975 Pax9 paired box 9 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352334 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8797975 Pax9 paired box 9 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1352334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8797975 Pax9 paired box 9 gene DOID:9007839 Selective Tooth Agenesis 3 ISO RGD:1352334 D RGD:7240710 20180130 OMIM 8797975 Pax9 paired box 9 gene DOID:9007839 Selective Tooth Agenesis 3 ISO RGD:1352334 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 3 PMID:10615120|PMID:11781684|PMID:11827258|PMID:11941488|PMID:12605438|PMID:12786960|PMID:14571272|PMID:14607846|PMID:14689302|PMID:15615874|PMID:16191360|PMID:16479262|PMID:17910065|PMID:18414213|PMID:19429910|PMID:25741868|PMID:28492532|PMID:28910570|PMID:29023497|PMID:30417976|PMID:36071541 8797993 Dact2 dishevelled binding antagonist of beta catenin 2 gene DOID:630 genetic disease ISO RGD:1321823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8797993 Dact2 dishevelled binding antagonist of beta catenin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1321823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 8798004 Pth2r parathyroid hormone 2 receptor gene DOID:0050888 syndromic intellectual disability ISO RGD:730965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 8798004 Pth2r parathyroid hormone 2 receptor gene DOID:14557 primary pulmonary hypertension ISO RGD:730965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8798004 Pth2r parathyroid hormone 2 receptor gene DOID:630 genetic disease ISO RGD:730965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798004 Pth2r parathyroid hormone 2 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8798030 Rps21 ribosomal protein S21 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8798030 Rps21 ribosomal protein S21 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1348628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8798030 Rps21 ribosomal protein S21 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8798030 Rps21 ribosomal protein S21 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8798030 Rps21 ribosomal protein S21 gene DOID:630 genetic disease ISO RGD:1348628 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798030 Rps21 ribosomal protein S21 gene DOID:9000217 Stomach Neoplasms ISO RGD:1348628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8798030 Rps21 ribosomal protein S21 gene DOID:9000918 Disease Progression ISO RGD:1348628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8798051 Abcd2 ATP binding cassette subfamily D member 2 gene DOID:1459 hypothyroidism treatment ISO RGD:730968 D RGD:9068941 20200609 RGD PMID:28200172|REF_RGD_ID:13673918 8798051 Abcd2 ATP binding cassette subfamily D member 2 gene DOID:630 genetic disease ISO RGD:730967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798051 Abcd2 ATP binding cassette subfamily D member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8798068 Pde6g phosphodiesterase 6G gene DOID:0110407 retinitis pigmentosa 57 ISO RGD:735391 D RGD:7240710 20180130 OMIM 8798068 Pde6g phosphodiesterase 6G gene DOID:0110407 retinitis pigmentosa 57 ISO RGD:735391 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 57 PMID:17576681|PMID:20655036|PMID:25741868|PMID:28492532|PMID:9536098 8798068 Pde6g phosphodiesterase 6G gene DOID:10584 retinitis pigmentosa ISO RGD:735391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20655036|PMID:25741868|PMID:28492532 8798068 Pde6g phosphodiesterase 6G gene DOID:630 genetic disease ISO RGD:735391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8798068 Pde6g phosphodiesterase 6G gene DOID:8501 fundus dystrophy ISO RGD:735391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 8798081 Fetub fetuin B gene DOID:0060575 3MC syndrome 1 ISO RGD:1348659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 8798081 Fetub fetuin B gene DOID:630 genetic disease ISO RGD:1348659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798081 Fetub fetuin B gene DOID:9003281 Spontaneous Abortions ISO RGD:1348659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8798107 Rinl Ras and Rab interactor like gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602985 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8798107 Rinl Ras and Rab interactor like gene DOID:630 genetic disease ISO RGD:1602985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798107 Rinl Ras and Rab interactor like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602985 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8798141 Dhx8 DEAH-box helicase 8 gene DOID:0080205 CAKUT ISO RGD:1321795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 8798141 Dhx8 DEAH-box helicase 8 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 8798141 Dhx8 DEAH-box helicase 8 gene DOID:630 genetic disease ISO RGD:1321795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798180 Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:0060448 Fleck corneal dystrophy ISO RGD:1313818 D RGD:7240710 20180130 OMIM 8798180 Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:0060448 Fleck corneal dystrophy ISO RGD:1313818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fleck corneal dystrophy PMID:15902656|PMID:18558518|PMID:23288988|PMID:25741868|PMID:26396486|PMID:28492532 8798180 Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:14557 primary pulmonary hypertension ISO RGD:1313818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8798180 Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:630 genetic disease ISO RGD:1313818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798180 Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:8778 Crohn's disease ISO RGD:1313819 D RGD:9068941 20220825 MouseDO 8798180 Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8798244 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1601767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:19463981|PMID:24033266|PMID:25741868 8798244 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0080600 COVID-19 ISO RGD:1601767 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8798244 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0112070 nuclear type mitochondrial complex I deficiency 18 ISO RGD:1601767 D RGD:7240710 20190315 OMIM 8798244 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0112070 nuclear type mitochondrial complex I deficiency 18 ISO RGD:1601767 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 PMID:19463981|PMID:25741868|PMID:27986404|PMID:28492532|PMID:34656053|PMID:37572574 8798244 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1601767 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8798244 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:630 genetic disease ISO RGD:1601767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34656053 8798244 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8798244 Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1601767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:0060180 colitis treatment ISO RGD:734432 D RGD:9068941 20210312 RGD PMID:30142311|REF_RGD_ID:42724458 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25294219 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23592516|REF_RGD_ID:10412712 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:25385666|REF_RGD_ID:21201312 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:0081292 traumatic brain injury ISO RGD:620360 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:30855558|REF_RGD_ID:26884463 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:734431 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10247 pleurisy ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:14673141|REF_RGD_ID:6893408 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:734432 D RGD:9068941 20200609 RGD protein:increased expression:brain, nucleus PMID:23771816|REF_RGD_ID:10412683 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease onset ISO RGD:734431 D RGD:9068941 20200609 RGD DNA:snps, haplotype:5' utr, intron:multiple (human) PMID:20064547|REF_RGD_ID:6893326 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22913737|REF_RGD_ID:10412685 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:734431 D RGD:9068941 20200609 RGD PMID:19805328|REF_RGD_ID:10412689 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10763 hypertension ISO RGD:734431 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32165127 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10763 hypertension treatment ISO RGD:620360 D RGD:9068941 20230817 RGD PMID:23528973|PMID:23775684|REF_RGD_ID:10412717|REF_RGD_ID:401793732 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:10923 sickle cell anemia ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:11832 visual epilepsy ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24333359|REF_RGD_ID:10412723 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:11832 visual epilepsy treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:24333359|REF_RGD_ID:10412723 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:12236 primary biliary cholangitis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:12306 vitiligo ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:12858 Huntington's disease ISO RGD:620360 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum PMID:24008671|REF_RGD_ID:10412688 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:1324 lung cancer ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:13580 cholestasis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20977460 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:31900718|REF_RGD_ID:21201303 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:161 keratosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011|PMID:29018201 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:2841 asthma severity ISO RGD:734431 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human) PMID:21514635|REF_RGD_ID:6893376 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3021 acute kidney failure ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24958931 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3021 acute kidney failure treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:24291173|REF_RGD_ID:10412697 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3042 allergic contact dermatitis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23564646 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:620360 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:22737924|REF_RGD_ID:10412732 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734431 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:18556627|REF_RGD_ID:5134980 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:734431 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:primary motor cortex, spinal cord (human) PMID:18957896|REF_RGD_ID:6893397 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:734431 D RGD:9068941 20210604 CTD CTD Direct Evidence: therapeutic PMID:27012417 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:22056419|REF_RGD_ID:10412690 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23880501|PMID:24466583|REF_RGD_ID:10412696|REF_RGD_ID:10412714 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489257 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3602 toxic encephalopathy ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20211941 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:363 uterine cancer ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:19138753|REF_RGD_ID:6893396 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23570914 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011|PMID:29018201 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:734431 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22684020|PMID:26482881|PMID:33148531 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:26619011|PMID:29018201 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:399 tuberculosis treatment ISO RGD:734431 D RGD:9068941 20210305 RGD DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human) PMID:31586142|REF_RGD_ID:42722614 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:4195 hyperglycemia ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20086057 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:4448 macular degeneration ISO RGD:734431 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:28312647A>G (rs6726395) (human) PMID:23276910|REF_RGD_ID:7771558 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:4448 macular degeneration ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:21559389|REF_RGD_ID:10412682 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:5082 liver cirrhosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23793039 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22732220|REF_RGD_ID:10412731 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247513 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011|PMID:29018201 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:557 kidney disease ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20605904 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:5844 myocardial infarction ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24915518|REF_RGD_ID:10412738 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:5844 myocardial infarction treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23290949|REF_RGD_ID:10412734 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:6000 congestive heart failure ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:29373037|REF_RGD_ID:26923905 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:6000 congestive heart failure ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28373008 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:630 genetic disease ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011|PMID:29018201 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:77 gastrointestinal system disease ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:784 chronic kidney disease treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23174956|REF_RGD_ID:10412711 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:83 cataract disease_progression ISO RGD:734431 D RGD:9068941 20200609 RGD DNA:snps, haplotype:5' utr, intron:multiple (human) PMID:20064547|REF_RGD_ID:6893326 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:850 lung disease ISO RGD:734432 D RGD:9068941 20200609 RGD acute lung injury associated with brain injuries PMID:19176347|REF_RGD_ID:5134977 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:8704 genital herpes ameliorates ISO RGD:734432 D RGD:9068941 20210305 RGD PMID:31555293|REF_RGD_ID:42722615 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:620360 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina PMID:23633659|REF_RGD_ID:10412733 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:24747453|REF_RGD_ID:10412730 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22350949|REF_RGD_ID:10412739 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000352 Vascular System Injuries ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19234301 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22304528|REF_RGD_ID:10412722 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:734431 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32621833 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734431 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000998 Brain Injuries ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:25089700|REF_RGD_ID:11576302 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9000998 Brain Injuries ISO RGD:620360 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:18787991|REF_RGD_ID:5134971 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:734431 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs35652124(human) PMID:31340446|REF_RGD_ID:21201311 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:31906014|REF_RGD_ID:21201307 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23341968 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:620360 D RGD:9068941 20200609 RGD protein:decreased localization:nucleus PMID:23512109|REF_RGD_ID:10412728 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29353218 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9001916 Fetal Death ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22288937|PMID:31952110|REF_RGD_ID:10403073|REF_RGD_ID:21201304 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:21439372|REF_RGD_ID:6893386 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20103708 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620360 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23064900|REF_RGD_ID:10412718 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002221 Hyperplasia ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19234301 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620360 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:25171874|REF_RGD_ID:26884462 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:734431 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:25171874|REF_RGD_ID:26884462 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23910525|REF_RGD_ID:10412716 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20124447|PMID:23441843 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002644 Premature Aging treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:19443193|REF_RGD_ID:10412691 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002720 Splenomegaly ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19910389 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002802 Acidoses ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29618784 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9002884 Emphysema ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20133372 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:620360 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:26619011|PMID:29018201 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9003386 Sunburn ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:18200051|REF_RGD_ID:6893371 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:620360 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004203 Chromosome Breakage ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27774770 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004250 Hepatic Insufficiency ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004464 Skin Neoplasms ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734431 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004610 Acute Lung Injury ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24812154 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9004634 Cardiac Output, Low ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30096613 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:734431 D RGD:9068941 20231005 CTD CTD Direct Evidence: marker/mechanism PMID:31227482 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22072621|REF_RGD_ID:10412719 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005369 Hepatomegaly ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005369 Hepatomegaly ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:32105670|REF_RGD_ID:21201282 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620360 D RGD:9068941 20200609 RGD protein:increased localization:blood, mononuclear cell, nucleus PMID:23331247|REF_RGD_ID:7244270 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:22869588|REF_RGD_ID:10412694 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24740568|REF_RGD_ID:10412720 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005749 Necrosis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24813929 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9005930 Endotoxemia treatment ISO RGD:620360 D RGD:9068941 20210305 RGD PMID:26646455|REF_RGD_ID:42722616 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006205 Animal Disease Models ISO RGD:734431 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27012417|PMID:29255069 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620360 D RGD:9068941 20230128 RGD PMID:31089916|REF_RGD_ID:155882543 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27774770 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20605904 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:734432 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:620360 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23453443|REF_RGD_ID:10412713 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:734432 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23353773|REF_RGD_ID:10412721 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29353218 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20722399 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22491424|PMID:22627062|PMID:24813929|PMID:26958860|PMID:30215777 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:18417483|REF_RGD_ID:6893370 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:29091898|PMID:31972209|PMID:32066295|REF_RGD_ID:15090820|REF_RGD_ID:21201280|REF_RGD_ID:21201283 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620360 D RGD:9068941 20200609 RGD induced by methotrexate (CHEBI:44185), treated by ferulic acid (CHEBI:17620) PMID:31889292|REF_RGD_ID:21201308 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:29091898|PMID:31927046|REF_RGD_ID:15090820|REF_RGD_ID:21201305 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734431 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:35124418 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007692 Insulin Resistance ISO RGD:734431 D RGD:9068941 20200609 RGD associated with obesity; protein:decreased expression:hepatocyte: PMID:32102936|REF_RGD_ID:21201281 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007702 Carcinogenesis ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29228771 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20530669 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24915518|REF_RGD_ID:10412738 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:734431 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32621833 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9009072 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ISO RGD:734431 D RGD:7240710 20190315 OMIM 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9009072 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA ISO RGD:734431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia | ClinVar Annotator: match by term: NFE2L2-related condition PMID:24130096|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29018201|PMID:31107239 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:734431 D RGD:9068941 20210312 RGD PMID:23729024|REF_RGD_ID:42724459 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9256 colorectal cancer ISO RGD:734431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:29018201 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9256 colorectal cancer treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:22859375|REF_RGD_ID:10412740 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620360 D RGD:9068941 20200609 RGD PMID:23954466|REF_RGD_ID:10412692 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9452 steatotic liver disease ISO RGD:734431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28555106 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9452 steatotic liver disease ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:22367278|REF_RGD_ID:6893372 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9675 pulmonary emphysema ISO RGD:734431 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:18559366|REF_RGD_ID:5134973 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9970 obesity ISO RGD:734431 D RGD:9068941 20200609 RGD protein:decreased expression:hepatocyte: PMID:32102936|REF_RGD_ID:21201281 8798257 Nfe2l2 NFE2 like bZIP transcription factor 2 gene DOID:9970 obesity ISO RGD:734432 D RGD:9068941 20200609 RGD protein:decreased expression:liver macrophage: PMID:32102936|REF_RGD_ID:21201281 8798281 Slc19a3 solute carrier family 19 member 3 gene DOID:0050659 biotin-responsive basal ganglia disease ISO RGD:1322863 D RGD:7240710 20180130 OMIM 8798281 Slc19a3 solute carrier family 19 member 3 gene DOID:0050659 biotin-responsive basal ganglia disease ISO RGD:1322863 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathy PMID:15871139|PMID:16199547|PMID:16790503|PMID:17576681|PMID:19387023|PMID:20065143|PMID:22777947|PMID:23423671|PMID:23482991|PMID:23589815|PMID:23742248|PMID:24166474|PMID:24372704|PMID:24667528|PMID:24957181|PMID:25677497|PMID:25741868|PMID:26077850|PMID:26443248|PMID:26467025|PMID:26657515|PMID:26863430|PMID:26938784|PMID:26975589|PMID:27290639|PMID:27749535|PMID:27841215|PMID:27896110|PMID:27905264|PMID:28492532|PMID:28518168|PMID:28677371|PMID:28696212|PMID:28832562|PMID:28856750|PMID:29101630|PMID:29236641|PMID:29287834|PMID:29453417|PMID:32034746|PMID:32461654|PMID:32600842|PMID:32679198|PMID:34276785|PMID:9536098 8798281 Slc19a3 solute carrier family 19 member 3 gene DOID:1059 intellectual disability ISO RGD:1322863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8798281 Slc19a3 solute carrier family 19 member 3 gene DOID:1826 epilepsy ISO RGD:1322863 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8798281 Slc19a3 solute carrier family 19 member 3 gene DOID:3652 Leigh disease ISO RGD:12390482 D RGD:9068941 20211008 OMIA Necrotising encephalopathy, subacute, of Leigh PMID:10664957|PMID:10912920|PMID:19466433|PMID:23469184|PMID:25117056|PMID:33081289|PMID:34544496|PMID:8844603 8798281 Slc19a3 solute carrier family 19 member 3 gene DOID:607 paraplegia ISO RGD:1322863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868 8798281 Slc19a3 solute carrier family 19 member 3 gene DOID:630 genetic disease ISO RGD:1322863 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15871139|PMID:16790503|PMID:23423671|PMID:23482991|PMID:23589815|PMID:23742248|PMID:24166474|PMID:25741868|PMID:26657515|PMID:27749535|PMID:27905264|PMID:28402605|PMID:28492532|PMID:28518168|PMID:28677371|PMID:28696212|PMID:29101630|PMID:29236641|PMID:29287834|PMID:32461654 8798281 Slc19a3 solute carrier family 19 member 3 gene DOID:679 basal ganglia disease ISO RGD:1322863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19387023 8798281 Slc19a3 solute carrier family 19 member 3 gene DOID:784 chronic kidney disease ISO RGD:1311413 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, heart, jejunum (rat) PMID:21149507|REF_RGD_ID:7327184 8798305 Prnd prion like protein doppel gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8798305 Prnd prion like protein doppel gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8798305 Prnd prion like protein doppel gene DOID:630 genetic disease ISO RGD:1315338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798320 Lrrc8b leucine rich repeat containing 8 VRAC subunit B gene DOID:630 genetic disease ISO RGD:1606820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798337 Rnf139 ring finger protein 139 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1315417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8798337 Rnf139 ring finger protein 139 gene DOID:4450 renal cell carcinoma ISO RGD:1315417 D RGD:7240710 20180130 OMIM 8798337 Rnf139 ring finger protein 139 gene DOID:630 genetic disease ISO RGD:1315417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798355 Trim29 tripartite motif containing 29 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8798355 Trim29 tripartite motif containing 29 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8798355 Trim29 tripartite motif containing 29 gene DOID:0080690 RASopathy ISO RGD:1317296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8798355 Trim29 tripartite motif containing 29 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8798355 Trim29 tripartite motif containing 29 gene DOID:0111971 immunodeficiency 18 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8798355 Trim29 tripartite motif containing 29 gene DOID:0111972 immunodeficiency 19 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8798355 Trim29 tripartite motif containing 29 gene DOID:0111973 immunodeficiency 17 ISO RGD:1317296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8798355 Trim29 tripartite motif containing 29 gene DOID:3070 high grade glioma ISO RGD:1317296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30929997 8798355 Trim29 tripartite motif containing 29 gene DOID:5419 schizophrenia ISO RGD:1317296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8798355 Trim29 tripartite motif containing 29 gene DOID:630 genetic disease ISO RGD:1317296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798355 Trim29 tripartite motif containing 29 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8798355 Trim29 tripartite motif containing 29 gene DOID:9007661 Dwarfism ISO RGD:1317296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8798371 Ap3m2 adaptor related protein complex 3 subunit mu 2 gene DOID:0090039 torsion dystonia 6 ISO RGD:735940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 8798371 Ap3m2 adaptor related protein complex 3 subunit mu 2 gene DOID:0111959 immunodeficiency 15B ISO RGD:735940 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8798371 Ap3m2 adaptor related protein complex 3 subunit mu 2 gene DOID:630 genetic disease ISO RGD:735940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798371 Ap3m2 adaptor related protein complex 3 subunit mu 2 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:735940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8798402 Il15 interleukin 15 gene DOID:0060496 respiratory allergy ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394133 8798402 Il15 interleukin 15 gene DOID:10247 pleurisy ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:10823416|REF_RGD_ID:4990464 8798402 Il15 interleukin 15 gene DOID:10533 viral pneumonia ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:20335267|REF_RGD_ID:4892670 8798402 Il15 interleukin 15 gene DOID:10608 celiac disease ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23269601 8798402 Il15 interleukin 15 gene DOID:11162 respiratory failure ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Influenza PMID:20003352|REF_RGD_ID:4888530 8798402 Il15 interleukin 15 gene DOID:11394 adult respiratory distress syndrome ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Influenza;protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 8798402 Il15 interleukin 15 gene DOID:11573 listeriosis ISO RGD:2887 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, intestine PMID:9826341|REF_RGD_ID:1626618 8798402 Il15 interleukin 15 gene DOID:11716 prediabetes syndrome ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:11832994|REF_RGD_ID:2313578 8798402 Il15 interleukin 15 gene DOID:12849 autistic disorder ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18929414 8798402 Il15 interleukin 15 gene DOID:13406 pulmonary sarcoidosis ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11742275|REF_RGD_ID:4990461 8798402 Il15 interleukin 15 gene DOID:13564 aspergillosis ISO RGD:737535 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:16893395|REF_RGD_ID:4981337 8798402 Il15 interleukin 15 gene DOID:178 vascular disease ISO RGD:10786 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid artery PMID:16321364|REF_RGD_ID:1626609 8798402 Il15 interleukin 15 gene DOID:2349 arteriosclerosis ISO RGD:10786 D RGD:9068941 20200609 RGD mRNA:increased expression:macrophage, aorta PMID:11485899|REF_RGD_ID:1626612 8798402 Il15 interleukin 15 gene DOID:2349 arteriosclerosis ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid PMID:11485899|REF_RGD_ID:1626612 8798402 Il15 interleukin 15 gene DOID:2841 asthma ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:11160248|PMID:15843549|REF_RGD_ID:4990462|REF_RGD_ID:5000757 8798402 Il15 interleukin 15 gene DOID:2841 asthma ISO RGD:737535 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15131572|PMID:16629787|REF_RGD_ID:4984421|REF_RGD_ID:5000758 8798402 Il15 interleukin 15 gene DOID:2841 asthma no_association ISO RGD:737535 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:19133918|REF_RGD_ID:5000760 8798402 Il15 interleukin 15 gene DOID:289 endometriosis ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8798402 Il15 interleukin 15 gene DOID:2957 pulmonary tuberculosis ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11742275|REF_RGD_ID:4990461 8798402 Il15 interleukin 15 gene DOID:3388 periodontal disease ISO RGD:2887 D RGD:9068941 20200609 RGD mRNA:decreased expression:B cell PMID:20618701|REF_RGD_ID:5024938 8798402 Il15 interleukin 15 gene DOID:3393 coronary artery disease ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:serum PMID:16109314|REF_RGD_ID:1626610 8798402 Il15 interleukin 15 gene DOID:3454 brain infarction ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:serum PMID:16109314|REF_RGD_ID:1626610 8798402 Il15 interleukin 15 gene DOID:3770 pulmonary fibrosis ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:21309737|REF_RGD_ID:5147438 8798402 Il15 interleukin 15 gene DOID:399 tuberculosis ISO RGD:10786 D RGD:9068941 20200609 RGD mRNA:altered expression:lung, spleen PMID:16367949|REF_RGD_ID:4987456 8798402 Il15 interleukin 15 gene DOID:4483 rhinitis ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:16750998|REF_RGD_ID:5000756 8798402 Il15 interleukin 15 gene DOID:4989 pancreatitis ISO RGD:2887 D RGD:9068941 20200609 RGD PMID:20332642|REF_RGD_ID:4892671 8798402 Il15 interleukin 15 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737535 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20028198|REF_RGD_ID:4892672 8798402 Il15 interleukin 15 gene DOID:630 genetic disease ISO RGD:737535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798402 Il15 interleukin 15 gene DOID:850 lung disease ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:serum PMID:17784951|REF_RGD_ID:4974390 8798402 Il15 interleukin 15 gene DOID:874 bacterial pneumonia ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:17911627|REF_RGD_ID:5000754 8798402 Il15 interleukin 15 gene DOID:9000386 Polyomavirus Infections ISO RGD:737535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8798402 Il15 interleukin 15 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:18394133|REF_RGD_ID:4943853 8798402 Il15 interleukin 15 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:18390740|REF_RGD_ID:4996474 8798402 Il15 interleukin 15 gene DOID:9001488 Human Influenza ISO RGD:10786 D RGD:9068941 20200609 RGD PMID:21098221|REF_RGD_ID:4994196 8798402 Il15 interleukin 15 gene DOID:9001488 Human Influenza ISO RGD:10786 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20212069|REF_RGD_ID:4996471 8798402 Il15 interleukin 15 gene DOID:9001488 Human Influenza ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:19234203|REF_RGD_ID:4996472 8798402 Il15 interleukin 15 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10786 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage, bronchial epithelial cell PMID:17611121|REF_RGD_ID:5000755 8798402 Il15 interleukin 15 gene DOID:9002457 Experimental Arthritis ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:20188418|REF_RGD_ID:5000761 8798402 Il15 interleukin 15 gene DOID:9004283 Transplant Rejection ISO RGD:2887 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17532783|REF_RGD_ID:10402939 8798402 Il15 interleukin 15 gene DOID:9005372 Inflammation ISO RGD:2887 D RGD:9068941 20200609 RGD PMID:12572774|REF_RGD_ID:1626616 8798402 Il15 interleukin 15 gene DOID:9005883 Pleural Effusion ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:15072171|REF_RGD_ID:4990458 8798402 Il15 interleukin 15 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737535 D RGD:9068941 20201218 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell,serum,dendritic cell (human) PMID:26541527|REF_RGD_ID:40902860 8798402 Il15 interleukin 15 gene DOID:9007651 Chronic Bronchitis ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11742275|REF_RGD_ID:4990461 8798402 Il15 interleukin 15 gene DOID:9008212 Diabetic Foot ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell PMID:17014667|REF_RGD_ID:2313575 8798402 Il15 interleukin 15 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2887 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:11585642|REF_RGD_ID:1626617 8798402 Il15 interleukin 15 gene DOID:934 viral infectious disease ISO RGD:737535 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive PMID:21235417|REF_RGD_ID:4892668 8798402 Il15 interleukin 15 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737535 D RGD:9068941 20200609 RGD PMID:17670937|REF_RGD_ID:2313574 8798402 Il15 interleukin 15 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737535 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16098919|REF_RGD_ID:2313577 8798402 Il15 interleukin 15 gene DOID:9970 obesity ISO RGD:737535 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:skeletal muscle, plasma PMID:18697873|REF_RGD_ID:2313573 8798418 Inpp5f inositol polyphosphate-5-phosphatase F gene DOID:630 genetic disease ISO RGD:1314013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798443 Epha8 EPH receptor A8 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1350663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8798443 Epha8 EPH receptor A8 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1350663 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8798443 Epha8 EPH receptor A8 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1350663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8798443 Epha8 EPH receptor A8 gene DOID:630 genetic disease ISO RGD:1350663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798443 Epha8 EPH receptor A8 gene DOID:9002189 High Myopia ISO RGD:1350663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8798443 Epha8 EPH receptor A8 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1350663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8798465 Sfi1 SFI1 centrin binding protein gene DOID:630 genetic disease ISO RGD:1347387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798524 Homer1 homer scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1354218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798524 Homer1 homer scaffold protein 1 gene DOID:9003126 Hallucinations ISO RGD:1354218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24126708 8798524 Homer1 homer scaffold protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8798524 Homer1 homer scaffold protein 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1354218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16160706|PMID:16314758 8798524 Homer1 homer scaffold protein 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1354218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24126708 8798524 Homer1 homer scaffold protein 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1354218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24126708 8798537 Golim4 golgi integral membrane protein 4 gene DOID:630 genetic disease ISO RGD:1322138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798562 Dip2c disco interacting protein 2 homolog C gene DOID:5409 lung small cell carcinoma ISO RGD:1346607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8798562 Dip2c disco interacting protein 2 homolog C gene DOID:630 genetic disease ISO RGD:1346607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8798562 Dip2c disco interacting protein 2 homolog C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8798562 Dip2c disco interacting protein 2 homolog C gene DOID:9008086 Developmental Disabilities ISO RGD:1346607 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8798562 Dip2c disco interacting protein 2 homolog C gene DOID:9970 obesity ISO RGD:1346607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 8798615 Mmp20 matrix metallopeptidase 20 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 8798615 Mmp20 matrix metallopeptidase 20 gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26124219 8798615 Mmp20 matrix metallopeptidase 20 gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive 8798615 Mmp20 matrix metallopeptidase 20 gene DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 ISO RGD:1318675 D RGD:7240710 20180130 OMIM 8798615 Mmp20 matrix metallopeptidase 20 gene DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 | ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 PMID:15744043|PMID:16246936|PMID:18096894|PMID:19966041|PMID:21597265|PMID:22243262|PMID:23355523|PMID:23625376|PMID:25741868|PMID:26502894|PMID:28473773|PMID:28492532|PMID:28659819 8798615 Mmp20 matrix metallopeptidase 20 gene DOID:1059 intellectual disability ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8798615 Mmp20 matrix metallopeptidase 20 gene DOID:12704 ataxia telangiectasia ISO RGD:1318675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8798615 Mmp20 matrix metallopeptidase 20 gene DOID:5419 schizophrenia ISO RGD:1318675 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8798615 Mmp20 matrix metallopeptidase 20 gene DOID:630 genetic disease ISO RGD:1318675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798634 Carmil3 capping protein regulator and myosin 1 linker 3 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1349280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8798634 Carmil3 capping protein regulator and myosin 1 linker 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1349280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8798634 Carmil3 capping protein regulator and myosin 1 linker 3 gene DOID:630 genetic disease ISO RGD:1349280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798634 Carmil3 capping protein regulator and myosin 1 linker 3 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1349280 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8798634 Carmil3 capping protein regulator and myosin 1 linker 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1349280 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:7240710 20180130 OMIM 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18414213|PMID:19763152|PMID:20307669|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23188138|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:27178444|PMID:27665122|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29079548|PMID:29193673|PMID:29345162|PMID:29588463|PMID:29610177|PMID:29715191|PMID:30029497|PMID:30064963|PMID:30311386|PMID:30488743|PMID:31607746|PMID:31630094|PMID:31638414|PMID:31755649|PMID:32531870|PMID:32581362|PMID:32944671|PMID:32973878|PMID:9063741|PMID:9409865|PMID:9536098 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23033341|PMID:23188138|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27486776|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28573831|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:29976977|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:31106028|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:32349990|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32944671|PMID:32973878|PMID:33179747|PMID:33502066|PMID:33669459|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148947|PMID:34547244|PMID:34906470|PMID:34935411|PMID:9063741|PMID:9409865|PMID:9536098 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome ISO RGD:1323128 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23033341|PMID:23188138|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24534407|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27486776|PMID:27523285|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28573831|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:29976977|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:31106028|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:32037395|PMID:32349990|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32944671|PMID:32945434|PMID:32973878|PMID:33179747|PMID:33502066|PMID:33669459|PMID:33782391|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148947|PMID:34547244|PMID:34906470|PMID:34935411|PMID:35211159|PMID:36109815|PMID:36162988|PMID:36252119|PMID:36460718|PMID:36685911|PMID:9063741|PMID:9409865|PMID:9536098 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:0050473 Alstrom syndrome susceptibility ISO RGD:1323128 D RGD:9068941 20200609 RGD DNA:frameshift mutations, nonsense mutations PMID:11941369|REF_RGD_ID:1601169 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:0050572 cone-rod dystrophy ISO RGD:1323128 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:17594715|PMID:25741868|PMID:26047050|PMID:26077327|PMID:28492532|PMID:29588463 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1323128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:0080046 Stickler syndrome ISO RGD:1323128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:17594715|PMID:28492532|PMID:30311386 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:10579 leukodystrophy ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:10581 metachromatic leukodystrophy ISO RGD:1323128 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:10584 retinitis pigmentosa ISO RGD:1323128 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17594715|PMID:25706677|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30718709|PMID:32037395|PMID:34906470 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:1059 intellectual disability ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17594715|PMID:25741868|PMID:25846608|PMID:28492532 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:1184 nephrotic syndrome ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1323128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22447358 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:14250 Down syndrome ISO RGD:1323128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome PMID:28492532|PMID:30311386 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:14791 Leber congenital amaurosis ISO RGD:1323128 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:26633542|PMID:28492532|PMID:31630094|PMID:31755649|PMID:32531870|PMID:36162988 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323128 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15689433|PMID:17594715|PMID:24400638|PMID:25741868|PMID:28492532 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:543 dystonia ISO RGD:1323128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:630 genetic disease ISO RGD:1323128 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11941369|PMID:11941370|PMID:17576681|PMID:17594715|PMID:21897446|PMID:25741868|PMID:25846608|PMID:26111748|PMID:26704672|PMID:28492532|PMID:29302074|PMID:29718281|PMID:30064963|PMID:30488743|PMID:31106028|PMID:9536098 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:783 end stage renal disease ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:8501 fundus dystrophy ISO RGD:1323128 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11941369|PMID:11941370|PMID:15689433|PMID:16720663|PMID:17594715|PMID:21157496|PMID:21897446|PMID:22555271|PMID:23847139|PMID:24595103|PMID:25706677|PMID:25741868|PMID:25846608|PMID:28041643|PMID:28492532|PMID:30064963|PMID:31810438|PMID:32349990|PMID:32944671|PMID:34906470 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:9000343 Vision Disorders ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:32581362 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1323128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:9004538 Hearing Loss ISO RGD:1323128 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17594715|PMID:24462884|PMID:25296579|PMID:25741868|PMID:26066530|PMID:26104972|PMID:27178444|PMID:28492532|PMID:30311386|PMID:32581362 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:9008296 Eye Abnormalities ISO RGD:1323128 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:9008818 Retinal Dystrophy, Early Onset Severe ISO RGD:1323128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe PMID:17594715|PMID:18414213|PMID:22876109|PMID:25741868|PMID:25846608|PMID:26704672|PMID:28112973|PMID:28432734|PMID:28492532|PMID:29718281 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:9351 diabetes mellitus ISO RGD:1323128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29610177 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:9351 diabetes mellitus ISO RGD:1323128 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:23033341|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29610177|PMID:30421101|PMID:32746448|PMID:32945434|PMID:33669459|PMID:34148947|PMID:36109815 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1323128 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1320374, rs1881245, rs3820700 (human) PMID:16601972|REF_RGD_ID:8696017 8798678 Alms1 ALMS1 centrosome and basal body associated protein gene DOID:9970 obesity ISO RGD:1616534 D RGD:9068941 20220825 MouseDO OMIM:601665 8798707 Dus1l dihydrouridine synthase 1 like gene DOID:630 genetic disease ISO RGD:1605962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798707 Dus1l dihydrouridine synthase 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8798737 Fam186a family with sequence similarity 186 member A gene DOID:630 genetic disease ISO RGD:2301117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798770 Cep41 centrosomal protein 41 gene DOID:0060041 autism spectrum disorder ISO RGD:1346248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Autism Spectrum Disorder PMID:20301500|PMID:22246503|PMID:25741868|PMID:28492532|PMID:30664616 8798770 Cep41 centrosomal protein 41 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1346248 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868|PMID:28492532 8798770 Cep41 centrosomal protein 41 gene DOID:0110984 Joubert syndrome 15 ISO RGD:1346248 D RGD:7240710 20180130 OMIM 8798770 Cep41 centrosomal protein 41 gene DOID:0110984 Joubert syndrome 15 ISO RGD:1346248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 15 PMID:16199547|PMID:17576681|PMID:20301500|PMID:21438139|PMID:22246503|PMID:25741868|PMID:28492532|PMID:29588463|PMID:30664616|PMID:9536098 8798770 Cep41 centrosomal protein 41 gene DOID:0111004 Joubert syndrome 9 ISO RGD:1346248 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic PMID:20301500|PMID:22246503|PMID:25741868|PMID:28492532|PMID:30664616 8798770 Cep41 centrosomal protein 41 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8798770 Cep41 centrosomal protein 41 gene DOID:630 genetic disease ISO RGD:1346248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22246503|PMID:25741868|PMID:28492532 8798770 Cep41 centrosomal protein 41 gene DOID:9250 acrocallosal syndrome ISO RGD:1346248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic PMID:22246503|PMID:28492532 8798793 Srm spermidine synthase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8798793 Srm spermidine synthase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732806 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8798793 Srm spermidine synthase gene DOID:0111936 immunodeficiency 14 ISO RGD:732806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8798793 Srm spermidine synthase gene DOID:3910 lung adenocarcinoma ISO RGD:732806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8798793 Srm spermidine synthase gene DOID:630 genetic disease ISO RGD:732806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798793 Srm spermidine synthase gene DOID:9006205 Animal Disease Models ISO RGD:732806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8798793 Srm spermidine synthase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:732806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8798820 Plcb4 phospholipase C beta 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 8798820 Plcb4 phospholipase C beta 4 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:733727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 8798820 Plcb4 phospholipase C beta 4 gene DOID:10283 prostate cancer ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8798820 Plcb4 phospholipase C beta 4 gene DOID:1909 melanoma ISO RGD:733727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 8798820 Plcb4 phospholipase C beta 4 gene DOID:2843 long QT syndrome ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8798820 Plcb4 phospholipase C beta 4 gene DOID:6039 uveal melanoma ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:31186267 8798820 Plcb4 phospholipase C beta 4 gene DOID:630 genetic disease ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16114046|PMID:22560091|PMID:23315542|PMID:25741868|PMID:31186267|PMID:31395954|PMID:33258288 8798820 Plcb4 phospholipase C beta 4 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:733727 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome PMID:16114046|PMID:22560091|PMID:23315542|PMID:25741868 8798820 Plcb4 phospholipase C beta 4 gene DOID:9002492 Auriculocondylar Syndrome 1 ISO RGD:733727 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 1 PMID:16114046|PMID:18314001|PMID:22560091|PMID:23315542|PMID:25741868 8798820 Plcb4 phospholipase C beta 4 gene DOID:9003698 ALAGILLE SYNDROME 1 ISO RGD:733727 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 8798820 Plcb4 phospholipase C beta 4 gene DOID:9006036 Auriculocondylar Syndrome 2 ISO RGD:733727 D RGD:7240710 20180130 OMIM 8798820 Plcb4 phospholipase C beta 4 gene DOID:9006036 Auriculocondylar Syndrome 2 ISO RGD:733727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 2 PMID:16114046|PMID:18314001|PMID:18680186|PMID:18686566|PMID:19152421|PMID:22286465|PMID:22560091|PMID:23315542|PMID:25741868|PMID:28492532|PMID:31186267|PMID:31395954|PMID:33258288 8798867 Dnajb14 DnaJ heat shock protein family (Hsp40) member B14 gene DOID:630 genetic disease ISO RGD:1605332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798883 Ly6d lymphocyte antigen 6 family member D gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1314571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 8798883 Ly6d lymphocyte antigen 6 family member D gene DOID:4621 holoprosencephaly ISO RGD:1314571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8798883 Ly6d lymphocyte antigen 6 family member D gene DOID:630 genetic disease ISO RGD:1314571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798891 Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:0070532 aniridia 1 ISO RGD:1350551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10737978|PMID:11284764|PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28231309|PMID:28492532 8798891 Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:1059 intellectual disability ISO RGD:1350551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8798891 Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:12271 aniridia ISO RGD:1350551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 8798891 Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:3764 Denys-Drash syndrome ISO RGD:1350551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 8798891 Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:5419 schizophrenia ISO RGD:1350551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8798891 Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 gene DOID:630 genetic disease ISO RGD:1350551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798923 Casq2 calsequestrin 2 gene DOID:0050700 cardiomyopathy ISO RGD:737298 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12034872|PMID:17881003|PMID:18543230|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21454795|PMID:22421959|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:30847666|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626 8798923 Casq2 calsequestrin 2 gene DOID:0060224 atrial fibrillation ISO RGD:737298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8798923 Casq2 calsequestrin 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098 8798923 Casq2 calsequestrin 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:737298 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:17576681|PMID:17881003|PMID:18543230|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29178653|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:37477868|PMID:9536098 8798923 Casq2 calsequestrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098 8798923 Casq2 calsequestrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737298 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:9536098 8798923 Casq2 calsequestrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737298 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:37477868|PMID:9536098 8798923 Casq2 calsequestrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:737298 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25640679|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29178653|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30729048|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:37477868|PMID:9536098 8798923 Casq2 calsequestrin 2 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:737298 D RGD:7240710 20180130 OMIM 8798923 Casq2 calsequestrin 2 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:737298 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:11704930|PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:16601229|PMID:16908766|PMID:17576681|PMID:17881003|PMID:18469084|PMID:18543230|PMID:18583715|PMID:18684293|PMID:19398665|PMID:19709828|PMID:20301466|PMID:20353949|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:22650415|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:24679846|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26196381|PMID:26230511|PMID:26671417|PMID:27114410|PMID:27157848|PMID:27538377|PMID:27930701|PMID:28074886|PMID:28158428|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29255176|PMID:29544605|PMID:29766881|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31482657|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:33093545|PMID:35932045|PMID:36291626|PMID:37477868|PMID:9536098 8798923 Casq2 calsequestrin 2 gene DOID:0080074 neural tube defect ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 8798923 Casq2 calsequestrin 2 gene DOID:0080690 RASopathy ISO RGD:737298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8798923 Casq2 calsequestrin 2 gene DOID:0080700 caudal regression syndrome ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caudal regression sequence | ClinVar Annotator: match by term: Sacral defect with anterior meningocele PMID:24033266|PMID:25741868|PMID:26196381|PMID:28492532 8798923 Casq2 calsequestrin 2 gene DOID:0111073 progressive familial heart block ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive familial heart block PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648 8798923 Casq2 calsequestrin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20530761|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 8798923 Casq2 calsequestrin 2 gene DOID:1929 supravalvular aortic stenosis onset ISO RGD:2276 D RGD:9068941 20200609 RGD mRNA:decreased expression:left ventricle myocardium PMID:1531837|REF_RGD_ID:6771235 8798923 Casq2 calsequestrin 2 gene DOID:2843 long QT syndrome ISO RGD:737298 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:12386154|PMID:20301466|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29915098|PMID:30775854 8798923 Casq2 calsequestrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737298 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:18684293|PMID:21618644|PMID:28492532|PMID:32693635 8798923 Casq2 calsequestrin 2 gene DOID:6000 congestive heart failure ISO RGD:2276 D RGD:9068941 20200609 RGD mRNA:increased expression:sinoatrial node PMID:21565973|REF_RGD_ID:6771208 8798923 Casq2 calsequestrin 2 gene DOID:630 genetic disease ISO RGD:737298 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8798923 Casq2 calsequestrin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:20530761|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8798923 Casq2 calsequestrin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:25741868|PMID:27114410|PMID:28492532 8798923 Casq2 calsequestrin 2 gene DOID:9003163 Heart Block ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:27114410|PMID:28492532 8798923 Casq2 calsequestrin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18052993 8798923 Casq2 calsequestrin 2 gene DOID:9005141 Ventricular Tachycardia susceptibility ISO RGD:737298 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.D307H (human) PMID:11704930|REF_RGD_ID:734697 8798923 Casq2 calsequestrin 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:2276 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21441944|REF_RGD_ID:6771209 8798923 Casq2 calsequestrin 2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:737298 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:12034872|PMID:12386154|PMID:14571276|PMID:16199547|PMID:17576681|PMID:17881003|PMID:18543230|PMID:18684293|PMID:19709828|PMID:20530761|PMID:21063088|PMID:21076409|PMID:21265816|PMID:21454795|PMID:21618644|PMID:22421959|PMID:22553997|PMID:23286974|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25651173|PMID:25691538|PMID:25741868|PMID:26671417|PMID:27114410|PMID:27538377|PMID:27930701|PMID:28361054|PMID:28404607|PMID:28492532|PMID:29255176|PMID:29915098|PMID:30600839|PMID:30615648|PMID:30775854|PMID:30847666|PMID:31589614|PMID:31983221|PMID:32298319|PMID:32574564|PMID:32693635|PMID:9536098 8798923 Casq2 calsequestrin 2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:737298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:12034872|PMID:14571276|PMID:18543230|PMID:19709828|PMID:21063088|PMID:21076409|PMID:21454795|PMID:22421959|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25651173|PMID:25741868|PMID:26671417|PMID:28492532 8798923 Casq2 calsequestrin 2 gene DOID:9007820 Sudden Death ISO RGD:737298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:12034872|PMID:18543230|PMID:21063088|PMID:21454795|PMID:22421959|PMID:24025405|PMID:24033266|PMID:25651173|PMID:25741868|PMID:26671417|PMID:28492532 8798948 Lgalsl galectin like gene DOID:630 genetic disease ISO RGD:1606012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798948 Lgalsl galectin like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8798974 Cdhr1 cadherin related family member 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:737398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:16199547|PMID:17576681|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:9536098 8798974 Cdhr1 cadherin related family member 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:737398 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:16199547|PMID:17576681|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:31456290|PMID:32681094|PMID:33546218|PMID:34795310|PMID:34906470|PMID:35260635|PMID:35627310|PMID:9536098 8798974 Cdhr1 cadherin related family member 1 gene DOID:0050795 cone dystrophy ISO RGD:737398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:26766544|PMID:28041643|PMID:28492532|PMID:28765526|PMID:30718709|PMID:33546218|PMID:35627310 8798974 Cdhr1 cadherin related family member 1 gene DOID:0080600 COVID-19 ISO RGD:737398 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8798974 Cdhr1 cadherin related family member 1 gene DOID:0111021 cone-rod dystrophy 15 ISO RGD:737398 D RGD:7240710 20180130 OMIM 8798974 Cdhr1 cadherin related family member 1 gene DOID:0111021 cone-rod dystrophy 15 ISO RGD:737398 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CDHR1-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 15 | ClinVar Annotator: match by term: Macular dystrophy, retinal, 5 | ClinVar Annotator: match by term: Retinitis pigmentosa 65 PMID:16199547|PMID:17576681|PMID:20087419|PMID:20805371|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:24154662|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:27623334|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:29785639|PMID:30576320|PMID:30718709|PMID:30992995|PMID:31387115|PMID:32037395|PMID:32681094|PMID:33546218|PMID:33691693|PMID:33946315|PMID:34795310|PMID:34906470|PMID:34926197|PMID:35627310|PMID:9536098 8798974 Cdhr1 cadherin related family member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:20805371|PMID:23044944|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:9536098 8798974 Cdhr1 cadherin related family member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737398 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:20805371|PMID:23044944|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26766544|PMID:27353947|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32037395|PMID:32681094|PMID:33546218|PMID:34795310|PMID:34906470|PMID:35627310|PMID:9536098 8798974 Cdhr1 cadherin related family member 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:737398 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:20805371|PMID:23044944|PMID:23591405|PMID:25741868|PMID:26103963|PMID:26261414|PMID:28492532|PMID:30718709|PMID:34906470 8798974 Cdhr1 cadherin related family member 1 gene DOID:630 genetic disease ISO RGD:737398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8798974 Cdhr1 cadherin related family member 1 gene DOID:8501 fundus dystrophy ISO RGD:737398 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:20087419|PMID:23044944|PMID:23233793|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26103963|PMID:26261414|PMID:26350383|PMID:26766544|PMID:27353947|PMID:27623334|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:34795310|PMID:34906470|PMID:35627310|PMID:9536098 8798974 Cdhr1 cadherin related family member 1 gene DOID:9006690 Vitelliform Macular Dystrophy 5 ISO RGD:737398 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Macular dystrophy, retinal, 5 PMID:17576681|PMID:23591405|PMID:24033266|PMID:25741868|PMID:26766544|PMID:27353947|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28765526|PMID:28885867|PMID:29555955|PMID:30718709|PMID:31387115|PMID:32681094|PMID:33546218|PMID:34795310|PMID:34906470|PMID:35627310|PMID:9536098 8798995 Hoxb3 homeobox B3 gene DOID:630 genetic disease ISO RGD:1321880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8798995 Hoxb3 homeobox B3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1321880 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34652879 8798995 Hoxb3 homeobox B3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1321880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18351244 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1346181 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:10907 microcephaly ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1346181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:11446 sciatic neuropathy ISO RGD:1359448 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:dorsal root ganglion: PMID:25467976|REF_RGD_ID:12910554 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:1826 epilepsy ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:540 strabismus ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1346181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24656866|PMID:25471517|PMID:25741868|PMID:28492532|PMID:32042906|PMID:9536098 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9000660 Choristoma ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ectopic tissue PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1346181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346181 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1346181 D RGD:7240710 20180130 OMIM 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1346181 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:16199547|PMID:17576681|PMID:24656866|PMID:25432320|PMID:25471517|PMID:25741868|PMID:26467025|PMID:26869582|PMID:27572814|PMID:28492532|PMID:28620870|PMID:29875423|PMID:30755392|PMID:31618474|PMID:32042906|PMID:33256324|PMID:9536098 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1346181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Insomnia PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474 8799028 Qars1 glutaminyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8799060 Cd79a CD79a molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1346600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25049379 8799060 Cd79a CD79a molecule gene DOID:0080600 COVID-19 ISO RGD:1346600 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 8799060 Cd79a CD79a molecule gene DOID:0081136 agammaglobulinemia 1 ISO RGD:1346600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 PMID:25741868|PMID:28492532 8799060 Cd79a CD79a molecule gene DOID:0081137 agammaglobulinemia 3 ISO RGD:1346600 D RGD:7240710 20190327 OMIM 8799060 Cd79a CD79a molecule gene DOID:0081137 agammaglobulinemia 3 ISO RGD:1346600 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive PMID:10525050|PMID:11920841|PMID:16199547|PMID:17576681|PMID:24481606|PMID:24728327|PMID:25741868|PMID:28492532|PMID:33046446|PMID:34060650|PMID:9536098 8799060 Cd79a CD79a molecule gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8799060 Cd79a CD79a molecule gene DOID:1342 congenital hypoplastic anemia ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8799060 Cd79a CD79a molecule gene DOID:2340 craniosynostosis ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8799060 Cd79a CD79a molecule gene DOID:2583 agammaglobulinemia ISO RGD:1346600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8799060 Cd79a CD79a molecule gene DOID:5419 schizophrenia ISO RGD:1346600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8799060 Cd79a CD79a molecule gene DOID:612 primary immunodeficiency disease ISO RGD:1346600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8799060 Cd79a CD79a molecule gene DOID:630 genetic disease ISO RGD:1346600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8799060 Cd79a CD79a molecule gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8799060 Cd79a CD79a molecule gene DOID:9269 maple syrup urine disease ISO RGD:1346600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8799090 Znf2 zinc finger protein 2 gene DOID:630 genetic disease ISO RGD:1320138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799099 Acer3 alkaline ceramidase 3 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1346570 D RGD:9068941 20200716 RGD mRNA:increased expression:liver PMID:31949129|REF_RGD_ID:35673324 8799099 Acer3 alkaline ceramidase 3 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis disease_progression ISO RGD:1558553 D RGD:9068941 20200716 RGD PMID:31949129|REF_RGD_ID:35673324 8799099 Acer3 alkaline ceramidase 3 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:1558553 D RGD:9068941 20200716 RGD PMID:31949129|REF_RGD_ID:35673324 8799099 Acer3 alkaline ceramidase 3 gene DOID:1059 intellectual disability ISO RGD:1346570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8799099 Acer3 alkaline ceramidase 3 gene DOID:1909 melanoma ISO RGD:1346570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8799099 Acer3 alkaline ceramidase 3 gene DOID:219 colon cancer severity ISO RGD:1558553 D RGD:9068941 20200716 RGD associated with colitis PMID:26938296|REF_RGD_ID:35673322 8799099 Acer3 alkaline ceramidase 3 gene DOID:630 genetic disease ISO RGD:1346570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8799099 Acer3 alkaline ceramidase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346570 D RGD:9068941 20200716 RGD PMID:30097213|REF_RGD_ID:35673325 8799099 Acer3 alkaline ceramidase 3 gene DOID:9000099 Experimental Colitis ISO RGD:1558553 D RGD:9068941 20200716 RGD mRNA,protein:decreased expression, decreased activity:colon: PMID:26938296|REF_RGD_ID:35673322 8799099 Acer3 alkaline ceramidase 3 gene DOID:9000099 Experimental Colitis severity ISO RGD:1558553 D RGD:9068941 20200716 RGD PMID:26938296|REF_RGD_ID:35673322 8799099 Acer3 alkaline ceramidase 3 gene DOID:9009078 Progressive Leukodystrophy, Early Childhood-Onset ISO RGD:1346570 D RGD:7240710 20190315 OMIM 8799099 Acer3 alkaline ceramidase 3 gene DOID:9009078 Progressive Leukodystrophy, Early Childhood-Onset ISO RGD:1346570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET PMID:25741868|PMID:26792856|PMID:28492532|PMID:30575723 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:0110670 congenital myasthenic syndrome 9 ISO RGD:731781 D RGD:7240710 20180130 OMIM 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:0110670 congenital myasthenic syndrome 9 ISO RGD:731781 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 9 PMID:15184594|PMID:15496425|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19949040|PMID:20371544|PMID:23326516|PMID:24122059|PMID:25262156|PMID:25612909|PMID:25695962|PMID:25741868|PMID:25900532|PMID:26467025|PMID:28492532|PMID:29663639|PMID:29704306|PMID:30429133|PMID:30719842|PMID:32253145|PMID:8653786|PMID:9536098 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:731781 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:16199547|PMID:25612909|PMID:25695962|PMID:25741868|PMID:25900532|PMID:28492532|PMID:8653786 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:731781 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731781 D RGD:7240710 20180130 OMIM 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731781 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence PMID:15184594|PMID:15496425|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20371544|PMID:23326516|PMID:24122059|PMID:24183479|PMID:25262156|PMID:25537362|PMID:25612909|PMID:25640679|PMID:25695962|PMID:25741868|PMID:25900532|PMID:26467025|PMID:28492532|PMID:28518170|PMID:29663639|PMID:29704306|PMID:30429133|PMID:30719842|PMID:31750350|PMID:31920924|PMID:31974414|PMID:32253145|PMID:32453097|PMID:32732226|PMID:8653786|PMID:9536098 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:11162 respiratory failure ISO RGD:731781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Respiratory insufficiency PMID:25537362|PMID:25741868|PMID:28492532|PMID:31974414 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:3635 congenital myasthenic syndrome ISO RGD:731781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive PMID:28492532 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:437 myasthenia gravis ISO RGD:731781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22981737|PMID:27119269 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:437 myasthenia gravis severity ISO RGD:731781 D RGD:9068941 20200911 RGD protein:increased expression:serum (human) PMID:26025053|REF_RGD_ID:38599165 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:437 myasthenia gravis treatment ISO RGD:731781 D RGD:9068941 20200911 RGD PMID:22218276|REF_RGD_ID:38599166 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:731781 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:3211 D RGD:9068941 20200609 RGD PMID:17081697|REF_RGD_ID:2317084 8799119 Musk muscle associated receptor tyrosine kinase gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:731781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8799146 Ift122 intraflagellar transport 122 gene DOID:0050572 cone-rod dystrophy ISO RGD:1349473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 8799146 Ift122 intraflagellar transport 122 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1349473 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia PMID:23826986|PMID:24027799|PMID:25741868|PMID:28492532 8799146 Ift122 intraflagellar transport 122 gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:1349473 D RGD:7240710 20190327 OMIM 8799146 Ift122 intraflagellar transport 122 gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:1349473 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 | ClinVar Annotator: match by term: LEVIN SYNDROME I PMID:16199547|PMID:17022080|PMID:17576681|PMID:19648123|PMID:19760620|PMID:20493458|PMID:23826986|PMID:24027799|PMID:25741868|PMID:26792575|PMID:28370949|PMID:28492532|PMID:29037998|PMID:33532864|PMID:33717254|PMID:9536098 8799146 Ift122 intraflagellar transport 122 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8799146 Ift122 intraflagellar transport 122 gene DOID:10907 microcephaly ISO RGD:1349473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8799146 Ift122 intraflagellar transport 122 gene DOID:10908 hydrocephalus ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 8799146 Ift122 intraflagellar transport 122 gene DOID:2340 craniosynostosis ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 8799146 Ift122 intraflagellar transport 122 gene DOID:557 kidney disease ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 8799146 Ift122 intraflagellar transport 122 gene DOID:630 genetic disease ISO RGD:1349473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8799146 Ift122 intraflagellar transport 122 gene DOID:65 connective tissue disease ISO RGD:1349473 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8799146 Ift122 intraflagellar transport 122 gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 8799146 Ift122 intraflagellar transport 122 gene DOID:9002608 Spinal Curvatures ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 8799146 Ift122 intraflagellar transport 122 gene DOID:9002860 Cardiac Edema ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 8799146 Ift122 intraflagellar transport 122 gene DOID:9008296 Eye Abnormalities ISO RGD:1349473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493458 8799146 Ift122 intraflagellar transport 122 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8799146 Ift122 intraflagellar transport 122 gene DOID:9270 alkaptonuria ISO RGD:1349473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8799190 LOC102013596 olfactory receptor 10A3 gene DOID:630 genetic disease ISO RGD:1351222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799213 Tmem127 transmembrane protein 127 gene DOID:0050771 pheochromocytoma ISO RGD:1601991 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 8799213 Tmem127 transmembrane protein 127 gene DOID:0050771 pheochromocytoma susceptibility ISO RGD:1601991 D RGD:7240710 20230505 OMIM 8799213 Tmem127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32877928|PMID:33051659|PMID:9536098 8799213 Tmem127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:9536098 8799213 Tmem127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 8799213 Tmem127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 8799213 Tmem127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098 8799213 Tmem127 transmembrane protein 127 gene DOID:0050773 paraganglioma ISO RGD:1601991 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098 8799213 Tmem127 transmembrane protein 127 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1601991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute promyelocytic leukemia PMID:25741868|PMID:28492532|PMID:32575117 8799213 Tmem127 transmembrane protein 127 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1601991 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome PMID:16266984|PMID:17576681|PMID:20154675|PMID:25389632|PMID:25741868|PMID:28492532|PMID:9536098 8799213 Tmem127 transmembrane protein 127 gene DOID:1059 intellectual disability ISO RGD:1601991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8799213 Tmem127 transmembrane protein 127 gene DOID:1752 ocular melanoma ISO RGD:1601991 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intraocular melanoma PMID:25741868|PMID:28492532 8799213 Tmem127 transmembrane protein 127 gene DOID:2394 ovarian cancer ISO RGD:1601991 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8799213 Tmem127 transmembrane protein 127 gene DOID:5419 schizophrenia ISO RGD:1601991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8799213 Tmem127 transmembrane protein 127 gene DOID:6039 uveal melanoma ISO RGD:1601991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:25741868|PMID:28492532 8799213 Tmem127 transmembrane protein 127 gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1601991 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34439168|PMID:9536098 8799213 Tmem127 transmembrane protein 127 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1601991 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098 8799213 Tmem127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32575117|PMID:33051659 8799213 Tmem127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338 8799213 Tmem127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 8799213 Tmem127 transmembrane protein 127 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601991 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098 8799213 Tmem127 transmembrane protein 127 gene DOID:9119 acute myeloid leukemia ISO RGD:1601991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:20923864|PMID:25741868|PMID:28492532 8799221 Ppia peptidylprolyl isomerase A gene DOID:10763 hypertension ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:alveolar system (human) PMID:32496587|REF_RGD_ID:150383342 8799221 Ppia peptidylprolyl isomerase A gene DOID:12506 Bell's palsy exacerbates ISO RGD:731273 D RGD:9068941 20210910 RGD protein:increased expression:blood serum (human) PMID:32149981|REF_RGD_ID:150429625 8799221 Ppia peptidylprolyl isomerase A gene DOID:1474 aggressive periodontitis ISO RGD:731273 D RGD:9068941 20210910 RGD protein:increased expression:gingiva (human) PMID:27176139|REF_RGD_ID:150429628 8799221 Ppia peptidylprolyl isomerase A gene DOID:1749 squamous cell carcinoma ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8799221 Ppia peptidylprolyl isomerase A gene DOID:1826 epilepsy ISO RGD:3372 D RGD:9068941 20200609 RGD PMID:20626060|REF_RGD_ID:4890972 8799221 Ppia peptidylprolyl isomerase A gene DOID:1883 hepatitis C ameliorates ISO RGD:11131 D RGD:9068941 20210910 RGD PMID:23903655|REF_RGD_ID:150429630 8799221 Ppia peptidylprolyl isomerase A gene DOID:3310 atopic dermatitis ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:zone of skin (human) PMID:32496587|REF_RGD_ID:150383342 8799221 Ppia peptidylprolyl isomerase A gene DOID:3908 lung non-small cell carcinoma ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 8799221 Ppia peptidylprolyl isomerase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8799221 Ppia peptidylprolyl isomerase A gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:731273 D RGD:9068941 20210910 RGD human cell line and construct in a mouse model PMID:21871105|REF_RGD_ID:150429623 8799221 Ppia peptidylprolyl isomerase A gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:731273 D RGD:9068941 20210903 RGD DNA:SNPs:promotor, intron 1: 1604C>G, 2653A>C (rs8177826, rs3735481) (human) PMID:17590083|REF_RGD_ID:150383341 8799221 Ppia peptidylprolyl isomerase A gene DOID:630 genetic disease ISO RGD:731273 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799221 Ppia peptidylprolyl isomerase A gene DOID:649 prion disease exacerbates ISO RGD:11131 D RGD:9068941 20210903 RGD PMID:31181281|REF_RGD_ID:150383343 8799221 Ppia peptidylprolyl isomerase A gene DOID:9000217 Stomach Neoplasms ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 8799221 Ppia peptidylprolyl isomerase A gene DOID:9000371 influenza A ameliorates ISO RGD:731273 D RGD:9068941 20210910 RGD human gene in a mouse model PMID:27354005|REF_RGD_ID:150429624 8799221 Ppia peptidylprolyl isomerase A gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:11131 D RGD:9068941 20210910 RGD associated with Coxsackievirus Infections PMID:22446162|REF_RGD_ID:150429627 8799221 Ppia peptidylprolyl isomerase A gene DOID:9000965 Neoplasm Metastasis ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21956400 8799221 Ppia peptidylprolyl isomerase A gene DOID:9004484 Sepsis treatment ISO RGD:11131 D RGD:9068941 20210910 RGD PMID:29680745|REF_RGD_ID:150429626 8799221 Ppia peptidylprolyl isomerase A gene DOID:9007364 Mouth Neoplasms ISO RGD:731273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8799221 Ppia peptidylprolyl isomerase A gene DOID:9008225 Respirovirus Infections exacerbates ISO RGD:11131 D RGD:9068941 20210910 RGD PMID:28594325|REF_RGD_ID:150429629 8799221 Ppia peptidylprolyl isomerase A gene DOID:9261 nasopharynx carcinoma ISO RGD:731273 D RGD:9068941 20210910 RGD mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) PMID:31063269|REF_RGD_ID:150429622 8799221 Ppia peptidylprolyl isomerase A gene DOID:9970 obesity ISO RGD:731273 D RGD:9068941 20210903 RGD mRNA:increased expression:blood (human) PMID:32496587|REF_RGD_ID:150383342 8799229 Arsk arylsulfatase family member K gene DOID:0060041 autism spectrum disorder ISO RGD:1606445 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8799229 Arsk arylsulfatase family member K gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606445 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8799229 Arsk arylsulfatase family member K gene DOID:12798 mucopolysaccharidosis ISO RGD:1320932 D RGD:9068941 20220825 MouseDO OMIM:252700 8799229 Arsk arylsulfatase family member K gene DOID:630 genetic disease ISO RGD:1606445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799229 Arsk arylsulfatase family member K gene DOID:9000814 Mucopolysaccharidosis X ISO RGD:1606445 D RGD:7240710 20220112 OMIM 8799229 Arsk arylsulfatase family member K gene DOID:9000814 Mucopolysaccharidosis X ISO RGD:1606445 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: ARSK DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE K DEFICIENCY PMID:25741868|PMID:34916232 8799229 Arsk arylsulfatase family member K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8799229 Arsk arylsulfatase family member K gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606445 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8799243 Dbf4 DBF4-CDC7 kinase regulatory subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8799243 Dbf4 DBF4-CDC7 kinase regulatory subunit gene DOID:630 genetic disease ISO RGD:1605697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799261 Rnf222 ring finger protein 222 gene DOID:630 genetic disease ISO RGD:2299989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799274 Ttll8 tubulin tyrosine ligase like 8 gene DOID:0060041 autism spectrum disorder ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8799274 Ttll8 tubulin tyrosine ligase like 8 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:2290198 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8799274 Ttll8 tubulin tyrosine ligase like 8 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8799274 Ttll8 tubulin tyrosine ligase like 8 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8799274 Ttll8 tubulin tyrosine ligase like 8 gene DOID:10581 metachromatic leukodystrophy ISO RGD:2290198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8799274 Ttll8 tubulin tyrosine ligase like 8 gene DOID:1059 intellectual disability ISO RGD:2290198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8799297 Hsdl1 hydroxysteroid dehydrogenase like 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1354077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8799297 Hsdl1 hydroxysteroid dehydrogenase like 1 gene DOID:630 genetic disease ISO RGD:1354077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799297 Hsdl1 hydroxysteroid dehydrogenase like 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1354077 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060043 sexual health disorder ISO RGD:737336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15264227 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:737336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060823 syndromic X-linked intellectual disability 94 ISO RGD:737336 D RGD:7240710 20180130 OMIM 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:0060823 syndromic X-linked intellectual disability 94 ISO RGD:737336 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GRIA3-Related Disorder | ClinVar Annotator: match by term: GRIA3-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 94 PMID:17989220|PMID:19022251|PMID:20716669|PMID:24721225|PMID:25326635|PMID:25741868|PMID:25985138|PMID:26467025|PMID:28492532|PMID:28708303|PMID:29016847|PMID:32977175|PMID:35031858 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:1059 intellectual disability ISO RGD:737336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:32581362|PMID:33818783 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:12849 autistic disorder ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:1826 epilepsy ISO RGD:737336 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:33818783 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:543 dystonia ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:32581362 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:630 genetic disease ISO RGD:737336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20716669|PMID:25741868|PMID:25985138|PMID:26467025|PMID:28492532|PMID:29016847|PMID:31209962|PMID:9536098 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32581362 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:737336 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25326635|PMID:25741868 8799325 Gria3 glutamate ionotropic receptor AMPA type subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:737336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741907 8799360 Rbm10 RNA binding motif protein 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8799360 Rbm10 RNA binding motif protein 10 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8799360 Rbm10 RNA binding motif protein 10 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8799360 Rbm10 RNA binding motif protein 10 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8799360 Rbm10 RNA binding motif protein 10 gene DOID:0111780 TARP syndrome ISO RGD:732878 D RGD:7240710 20180130 OMIM 8799360 Rbm10 RNA binding motif protein 10 gene DOID:0111780 TARP syndrome ISO RGD:732878 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: TARP syndrome PMID:20451169|PMID:21910224|PMID:24259342|PMID:25741868|PMID:28492532|PMID:30462380|PMID:32812661|PMID:5410571 8799360 Rbm10 RNA binding motif protein 10 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 8799360 Rbm10 RNA binding motif protein 10 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8799360 Rbm10 RNA binding motif protein 10 gene DOID:1059 intellectual disability ISO RGD:732878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8799360 Rbm10 RNA binding motif protein 10 gene DOID:12849 autistic disorder ISO RGD:732878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8799360 Rbm10 RNA binding motif protein 10 gene DOID:1324 lung cancer onset ISO RGD:732878 D RGD:9068941 20220224 RGD PMID:33219256|REF_RGD_ID:150429789 8799360 Rbm10 RNA binding motif protein 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732878 D RGD:9068941 20220224 RGD PMID:30955253|REF_RGD_ID:151356984 8799360 Rbm10 RNA binding motif protein 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732878 D RGD:9068941 20220224 RGD DNA:missense mutations, protein-truncating variants: :multiple PMID:22980975|REF_RGD_ID:11097386 8799360 Rbm10 RNA binding motif protein 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732878 D RGD:9068941 20220224 RGD mRNA, protein:decreased expression:lung PMID:29085465|REF_RGD_ID:151356983 8799360 Rbm10 RNA binding motif protein 10 gene DOID:6000 congestive heart failure ISO RGD:631366 D RGD:9068941 20220414 RGD protein:decreased expression:heart PMID:30257214|REF_RGD_ID:151667449 8799360 Rbm10 RNA binding motif protein 10 gene DOID:630 genetic disease ISO RGD:732878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15853797|PMID:28492532 8799360 Rbm10 RNA binding motif protein 10 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732878 D RGD:9068941 20220224 RGD mRNA:decreased expression:liver PMID:32572914|REF_RGD_ID:151356975 8799360 Rbm10 RNA binding motif protein 10 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732878 D RGD:9068941 20220224 RGD associated with lung adenocarcinoma;DNA:missense mutation:exon:p.R241C (c.763C>T) (human) PMID:30405763|REF_RGD_ID:151356993 8799360 Rbm10 RNA binding motif protein 10 gene DOID:9003936 Cardiomegaly ISO RGD:631366 D RGD:9068941 20220414 RGD protein:decreased expression:heart PMID:30257214|REF_RGD_ID:151667449 8799360 Rbm10 RNA binding motif protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8799360 Rbm10 RNA binding motif protein 10 gene DOID:9256 colorectal cancer onset ISO RGD:732878 D RGD:9068941 20220224 RGD PMID:33194656|REF_RGD_ID:151356979 8799405 Rec114 REC114 meiotic recombination protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:2307386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8799405 Rec114 REC114 meiotic recombination protein gene DOID:2717 Bloom syndrome ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8799405 Rec114 REC114 meiotic recombination protein gene DOID:3320 Tay-Sachs disease ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8799405 Rec114 REC114 meiotic recombination protein gene DOID:5419 schizophrenia ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8799405 Rec114 REC114 meiotic recombination protein gene DOID:630 genetic disease ISO RGD:2307386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799405 Rec114 REC114 meiotic recombination protein gene DOID:9002039 Oocyte/Zygote/Embryo Maturation Arrest 10 ISO RGD:2307386 D RGD:7240710 20210303 OMIM 8799405 Rec114 REC114 meiotic recombination protein gene DOID:9002039 Oocyte/Zygote/Embryo Maturation Arrest 10 ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 10 PMID:31704776 8799405 Rec114 REC114 meiotic recombination protein gene DOID:9256 colorectal cancer ISO RGD:2307386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8799422 Alg3 ALG3 alpha-1,3- mannosyltransferase gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314369 D RGD:7240710 20180130 OMIM 8799422 Alg3 ALG3 alpha-1,3- mannosyltransferase gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314369 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CDGS, TYPE IV | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:10581255|PMID:11181649|PMID:12357336|PMID:15108280|PMID:15359379|PMID:15840742|PMID:16006436|PMID:17551933|PMID:22642865|PMID:23806237|PMID:25741868|PMID:27172925|PMID:28492532|PMID:29667327|PMID:30167849|PMID:31067009|PMID:33187827|PMID:33583022|PMID:34090370|PMID:8552211 8799422 Alg3 ALG3 alpha-1,3- mannosyltransferase gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8799422 Alg3 ALG3 alpha-1,3- mannosyltransferase gene DOID:0111546 Currarino syndrome ISO RGD:1314369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8799422 Alg3 ALG3 alpha-1,3- mannosyltransferase gene DOID:1059 intellectual disability ISO RGD:1314369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532|PMID:30167849 8799422 Alg3 ALG3 alpha-1,3- mannosyltransferase gene DOID:1826 epilepsy ISO RGD:1314369 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8799422 Alg3 ALG3 alpha-1,3- mannosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1314369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 8799422 Alg3 ALG3 alpha-1,3- mannosyltransferase gene DOID:630 genetic disease ISO RGD:1314369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33583022 8799462 Wrnip1 WRN helicase interacting protein 1 gene DOID:630 genetic disease ISO RGD:1346094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799473 Cracr2a calcium release activated channel regulator 2A gene DOID:630 genetic disease ISO RGD:1603191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799473 Cracr2a calcium release activated channel regulator 2A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8799509 Gcsaml germinal center associated signaling and motility like gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605281 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8799509 Gcsaml germinal center associated signaling and motility like gene DOID:1540 parathyroid carcinoma ISO RGD:1605281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8799509 Gcsaml germinal center associated signaling and motility like gene DOID:630 genetic disease ISO RGD:1605281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799509 Gcsaml germinal center associated signaling and motility like gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1605281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 8799509 Gcsaml germinal center associated signaling and motility like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8799521 Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1312775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 8799521 Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1312775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8799521 Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:10603 glucose intolerance ISO RGD:1312775 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29259128 8799521 Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:12849 autistic disorder ISO RGD:1312775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8799521 Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:630 genetic disease ISO RGD:1312775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799521 Lamtor5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1312775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26229107 8799538 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:734090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8799538 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:0080600 COVID-19 ISO RGD:734090 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8799538 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:734090 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8799538 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 8799538 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:1059 intellectual disability ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8799538 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:12704 ataxia telangiectasia ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8799538 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:630 genetic disease ISO RGD:734090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799538 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:734090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8799538 Timm8b translocase of inner mitochondrial membrane 8 homolog B gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:734090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8799544 Srpx sushi repeat containing protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8799544 Srpx sushi repeat containing protein X-linked gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 8799544 Srpx sushi repeat containing protein X-linked gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 8799544 Srpx sushi repeat containing protein X-linked gene DOID:12849 autistic disorder ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8799544 Srpx sushi repeat containing protein X-linked gene DOID:630 genetic disease ISO RGD:733583 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8799544 Srpx sushi repeat containing protein X-linked gene DOID:684 hepatocellular carcinoma ISO RGD:733583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8799544 Srpx sushi repeat containing protein X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8799544 Srpx sushi repeat containing protein X-linked gene DOID:9007661 Dwarfism ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8799544 Srpx sushi repeat containing protein X-linked gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:733583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8799544 Srpx sushi repeat containing protein X-linked gene DOID:9562 primary ciliary dyskinesia ISO RGD:733583 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8799566 Plxna2 plexin A2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8799566 Plxna2 plexin A2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8799566 Plxna2 plexin A2 gene DOID:12849 autistic disorder ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8799566 Plxna2 plexin A2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8799566 Plxna2 plexin A2 gene DOID:5419 schizophrenia ISO RGD:1313288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 8799566 Plxna2 plexin A2 gene DOID:630 genetic disease ISO RGD:1313288 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8799566 Plxna2 plexin A2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8799566 Plxna2 plexin A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8799605 Slc4a3 solute carrier family 4 member 3 gene DOID:114 heart disease ISO RGD:733142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 8799605 Slc4a3 solute carrier family 4 member 3 gene DOID:1148 polydactyly ISO RGD:733142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8799605 Slc4a3 solute carrier family 4 member 3 gene DOID:630 genetic disease ISO RGD:733142 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8799605 Slc4a3 solute carrier family 4 member 3 gene DOID:8466 retinal degeneration ISO RGD:12107555 D RGD:9068941 20231207 OMIA Retinal atrophy, progressive, SLC4A3-related PMID:21738669|PMID:22065099|PMID:36325094|PMID:38028226 8799605 Slc4a3 solute carrier family 4 member 3 gene DOID:9004002 Short QT Syndrome 7 ISO RGD:733142 D RGD:7240710 20230215 OMIM 8799605 Slc4a3 solute carrier family 4 member 3 gene DOID:9004002 Short QT Syndrome 7 ISO RGD:733142 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: SLC4A3-related condition | ClinVar Annotator: match by term: Short QT syndrome 7 PMID:25741868|PMID:29167417 8799605 Slc4a3 solute carrier family 4 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8799652 Pum1 pumilio RNA binding family member 1 gene DOID:0050952 spastic ataxia ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8799652 Pum1 pumilio RNA binding family member 1 gene DOID:0111743 cerebellar ataxia type 47 ISO RGD:1316232 D RGD:7240710 20190315 OMIM 8799652 Pum1 pumilio RNA binding family member 1 gene DOID:0111743 cerebellar ataxia type 47 ISO RGD:1316232 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PUM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 47 PMID:25741868|PMID:29474920|PMID:30903679|PMID:31859446 8799652 Pum1 pumilio RNA binding family member 1 gene DOID:1059 intellectual disability ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8799652 Pum1 pumilio RNA binding family member 1 gene DOID:1826 epilepsy ISO RGD:1316232 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8799652 Pum1 pumilio RNA binding family member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8799652 Pum1 pumilio RNA binding family member 1 gene DOID:630 genetic disease ISO RGD:1316232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29474920|PMID:30903679|PMID:31859446 8799652 Pum1 pumilio RNA binding family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8799652 Pum1 pumilio RNA binding family member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8799652 Pum1 pumilio RNA binding family member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8799652 Pum1 pumilio RNA binding family member 1 gene DOID:9008128 NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM ISO RGD:1316232 D RGD:7240710 20240306 OMIM 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:0050606 acrokeratosis verruciformis ISO RGD:731733 D RGD:7240710 20180808 OMIM 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:0050606 acrokeratosis verruciformis ISO RGD:731733 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf PMID:12542527|PMID:20518781|PMID:22814319|PMID:24033266|PMID:25622760|PMID:25741868|PMID:26467025|PMID:28035777|PMID:28492532|PMID:28498512 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:10825 essential hypertension susceptibility ISO RGD:731733 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.A724A (c.2171G>A)(human) PMID:20687374|REF_RGD_ID:13507310 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:114 heart disease ISO RGD:2174 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:23458196|REF_RGD_ID:7327178 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:114 heart disease ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19328205 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:2174 D RGD:9068941 20200609 RGD protein:increased oxidation:cardiac muscle cell PMID:23997093|REF_RGD_ID:13782087 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:1459 hypothyroidism ISO RGD:2174 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:21217071|REF_RGD_ID:6904140 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:1824 status epilepticus ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15288437 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2734 keratosis follicularis ISO RGD:731733 D RGD:7240710 20180130 OMIM 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2734 keratosis follicularis ISO RGD:731733 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Keratosis follicularis PMID:10080178|PMID:10441323|PMID:10441324|PMID:10441325|PMID:11168576|PMID:11244492|PMID:12072062|PMID:16766529|PMID:19216760|PMID:20423818|PMID:21519848|PMID:23356892|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28035777|PMID:28492532|PMID:30345710 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:2856 euthyroid sick syndrome treatment ISO RGD:2174 D RGD:9068941 20200609 RGD associated with congestive heart failure PMID:27737323|REF_RGD_ID:13782084 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6000 congestive heart failure ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:21691940|REF_RGD_ID:6903963 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6000 congestive heart failure ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776660 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:630 genetic disease ISO RGD:731733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6432 pulmonary hypertension ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:27144451|REF_RGD_ID:13782086 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:731733 D RGD:9068941 20200609 RGD PMID:23804254|REF_RGD_ID:13782089 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2174 D RGD:9068941 20200609 RGD protein:decreased expression:tail, skeletal muscle PMID:21930674|REF_RGD_ID:13782071 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9001636 Darier Disease, Segmental ISO RGD:731733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Darier disease, segmental PMID:11121153 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21217071 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9001956 Darier Disease, Acral Hemorrhagic Type ISO RGD:731733 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Darier disease, acral hemorrhagic type PMID:10441324|PMID:25741868 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9002514 Neointima treatment ISO RGD:731733 D RGD:9068941 20200609 RGD PMID:23535897|REF_RGD_ID:13782090 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9003936 Cardiomegaly ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11679415 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:29792884|REF_RGD_ID:13782078 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005141 Ventricular Tachycardia susceptibility ISO RGD:731733 D RGD:9068941 20200609 RGD associated with heart failure;DNA:SNP: :rs186056(human) PMID:24048583|REF_RGD_ID:13507307 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:20122173|PMID:28483572|REF_RGD_ID:12910731|REF_RGD_ID:13782130 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2174 D RGD:9068941 20200609 RGD protein:increased carbonylation:heart PMID:21300842|REF_RGD_ID:6904139 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9005725 Iron Overload ISO RGD:2174 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:27222135|REF_RGD_ID:13782085 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:2174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21441944|REF_RGD_ID:6771209 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685413 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007346 Cachexia ISO RGD:2174 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma PMID:23200745|REF_RGD_ID:13782066 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:18416460|REF_RGD_ID:13782074 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10734148 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:28637456|REF_RGD_ID:13782080 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2174 D RGD:9068941 20200609 RGD PMID:22009485|PMID:27222135|REF_RGD_ID:13782085|REF_RGD_ID:6771327 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2174 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:21216827|REF_RGD_ID:6892953 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8799698 Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 gene DOID:9767 myocardial stunning ISO RGD:731733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317512 8799725 Has3 hyaluronan synthase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1350380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8799725 Has3 hyaluronan synthase 3 gene DOID:630 genetic disease ISO RGD:1350380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799725 Has3 hyaluronan synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:628656 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19915162|REF_RGD_ID:9588633 8799725 Has3 hyaluronan synthase 3 gene DOID:9452 steatotic liver disease ISO RGD:1350380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27042213 8799737 Shisa6 shisa family member 6 gene DOID:630 genetic disease ISO RGD:1602039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799751 Agps alkylglycerone phosphate synthase gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732011 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8799751 Agps alkylglycerone phosphate synthase gene DOID:0110853 rhizomelic chondrodysplasia punctata type 3 ISO RGD:732011 D RGD:7240710 20180130 OMIM 8799751 Agps alkylglycerone phosphate synthase gene DOID:0110853 rhizomelic chondrodysplasia punctata type 3 ISO RGD:732011 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3 PMID:11152660|PMID:17576681|PMID:18414213|PMID:21990100|PMID:24033266|PMID:25197626|PMID:25741868|PMID:28492532|PMID:7807941|PMID:9536098|PMID:9553082 8799751 Agps alkylglycerone phosphate synthase gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:732011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:17576681|PMID:18414213|PMID:25741868|PMID:28492532|PMID:9536098 8799751 Agps alkylglycerone phosphate synthase gene DOID:630 genetic disease ISO RGD:732011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8799751 Agps alkylglycerone phosphate synthase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:620364 D RGD:9068941 20200609 RGD PMID:7407223|REF_RGD_ID:1598794 8799751 Agps alkylglycerone phosphate synthase gene DOID:9005474 Experimental Sarcoma ISO RGD:620364 D RGD:9068941 20200609 RGD PMID:7407223|REF_RGD_ID:1598794 8799775 Ube2j1 ubiquitin conjugating enzyme E2 J1 gene DOID:0080600 COVID-19 ISO RGD:1312877 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8799775 Ube2j1 ubiquitin conjugating enzyme E2 J1 gene DOID:630 genetic disease ISO RGD:1312877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799804 Efna2 ephrin A2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1314277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8799804 Efna2 ephrin A2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1314277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8799804 Efna2 ephrin A2 gene DOID:630 genetic disease ISO RGD:1314277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799820 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:733001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8799820 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:733001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8799820 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:10763 hypertension ISO RGD:620380 D RGD:9068941 20200609 RGD PMID:15311100|REF_RGD_ID:1580741 8799820 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:10763 hypertension ISO RGD:733001 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8799820 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:1826 epilepsy ISO RGD:733001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8799820 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8799820 Nherf2 NHERF family PDZ scaffold protein 2 gene DOID:630 genetic disease ISO RGD:733001 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799841 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:0112147 retinitis pigmentosa 90 ISO RGD:733177 D RGD:7240710 20200930 OMIM 8799841 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:0112147 retinitis pigmentosa 90 ISO RGD:733177 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 90 PMID:25741868|PMID:28058510|PMID:28412069|PMID:28492532|PMID:30058936|PMID:31012789|PMID:31456290|PMID:34906470 8799841 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:10584 retinitis pigmentosa ISO RGD:733177 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28058510|PMID:28412069|PMID:28492532|PMID:31456290|PMID:34906470 8799841 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:2717 Bloom syndrome ISO RGD:733177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8799841 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:733177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8799841 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:8398 osteoarthritis ISO RGD:733177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8799841 Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:733177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8799862 Cd164l2 CD164 molecule like 2 gene DOID:630 genetic disease ISO RGD:1603478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799876 Gpr33 G protein-coupled receptor 33 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1351733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 8799876 Gpr33 G protein-coupled receptor 33 gene DOID:630 genetic disease ISO RGD:1351733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799876 Gpr33 G protein-coupled receptor 33 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1351733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 8799876 Gpr33 G protein-coupled receptor 33 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351733 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8799887 Zfp3 ZFP3 zinc finger protein gene DOID:630 genetic disease ISO RGD:1346211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1313140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374066 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1313140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:1485 cystic fibrosis ISO RGD:1313140 D RGD:9068941 20200609 RGD PMID:21263071|REF_RGD_ID:5135530 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305233 D RGD:9068941 20200609 RGD PMID:24771108|REF_RGD_ID:9686115 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:2841 asthma ISO RGD:1313141 D RGD:9068941 20200609 RGD PMID:17517968|REF_RGD_ID:5135525 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1313140 D RGD:9068941 20200609 RGD PMID:21382414|REF_RGD_ID:5135524 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1313140 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-574G>T, +4259T>G (human) PMID:22472081|REF_RGD_ID:7245505 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:630 genetic disease ISO RGD:1313140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313140 D RGD:9068941 20201117 RGD associated with hepatitis B;DNA:SNP: : ���1516 G>T (human) PMID:27034168|REF_RGD_ID:40818257 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1313140 D RGD:9068941 20200609 RGD DNA:polymorphisms: : +4259T>G (human) PMID:22472081|REF_RGD_ID:7245505 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1305233 D RGD:9068941 20200609 RGD mRNA,protein:altered expression:bone: PMID:25264706|REF_RGD_ID:9686117 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1305233 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord: PMID:15913792|REF_RGD_ID:9686113 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1313141 D RGD:9068941 20200609 RGD PMID:11823861|REF_RGD_ID:9686086 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1305233 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung: PMID:24508263|REF_RGD_ID:9686116 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1313140 D RGD:9068941 20200609 RGD mRNA:increased expression:Leukocytes, Mononuclear: PMID:22172823|REF_RGD_ID:7245954 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9006647 Experimental Autoimmune Neuritis disease_progression ISO RGD:1305233 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:sciatic nerve: PMID:21784136|REF_RGD_ID:9686114 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9007356 Eczema ISO RGD:1313140 D RGD:9068941 20200609 RGD PMID:16159638|REF_RGD_ID:5128852 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9008980 Subcutaneous Panniculitis-like T-Cell Lymphoma ISO RGD:1313140 D RGD:7240710 20190515 OMIM 8799895 Havcr2 hepatitis A virus cellular receptor 2 gene DOID:9008980 Subcutaneous Panniculitis-like T-Cell Lymphoma ISO RGD:1313140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Subcutaneous panniculitis-like T-cell lymphoma PMID:25741868|PMID:30374066|PMID:30792187 8799917 Surf4 surfeit 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8799917 Surf4 surfeit 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8799917 Surf4 surfeit 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1322534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8799917 Surf4 surfeit 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8799917 Surf4 surfeit 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8799917 Surf4 surfeit 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1322534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8799917 Surf4 surfeit 4 gene DOID:3652 Leigh disease ISO RGD:1322534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8799917 Surf4 surfeit 4 gene DOID:630 genetic disease ISO RGD:1322534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799917 Surf4 surfeit 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:0070455 hereditary spastic paraplegia 79A ISO RGD:733510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia PMID:25741868|PMID:28492532|PMID:35986737|PMID:37650884 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:0070455 hereditary spastic paraplegia 79A susceptibility ISO RGD:733510 D RGD:7240710 20240320 OMIM 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:0112344 hereditary spastic paraplegia 79B ISO RGD:733510 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome PMID:10203348|PMID:10563640|PMID:12408865|PMID:15048890|PMID:16450370|PMID:18411255|PMID:19864305|PMID:21268678|PMID:22839974|PMID:23359680|PMID:25741868|PMID:28007905|PMID:28492532|PMID:3340629|PMID:4514348 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:0112344 hereditary spastic paraplegia 79B susceptibility ISO RGD:733510 D RGD:7240710 20240320 OMIM 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:10652 Alzheimer's disease ISO RGD:733510 D RGD:9068941 20200609 RGD PMID:14722078|REF_RGD_ID:1580538 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:14330 Parkinson's disease ISO RGD:733510 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:25741868|PMID:28492532 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:2367 neuroaxonal dystrophy ISO RGD:736277 D RGD:9068941 20200609 RGD DNA:deletion PMID:11555633|REF_RGD_ID:1302546 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:5679 retinal disease ISO RGD:3928 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:18836575|REF_RGD_ID:5490154 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:574 peripheral nervous system disease ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16797537 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:630 genetic disease ISO RGD:733510 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:684 hepatocellular carcinoma ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18666234 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16965602 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15930319 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9000123 Deglutition Disorders ISO RGD:736277 D RGD:9068941 20200609 RGD DNA:deletion PMID:11555633|REF_RGD_ID:1302546 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:733510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9006626 Parkinson's Disease 5 ISO RGD:733510 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Parkinson disease 5, autosomal dominant, susceptibility to PMID:10203348|PMID:10563640|PMID:12408865|PMID:15048890|PMID:16450370|PMID:18411255|PMID:18550537|PMID:19864305|PMID:21268678|PMID:22839974|PMID:25741868|PMID:28007905|PMID:28492532|PMID:4514348|PMID:9774100 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9006626 Parkinson's Disease 5 susceptibility ISO RGD:733510 D RGD:7240710 20240320 OMIM 8799930 Uchl1 ubiquitin C-terminal hydrolase L1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:733510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18958481 8799943 Htr6 5-hydroxytryptamine receptor 6 gene DOID:0060369 Parkinson's disease 6 ISO RGD:733226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8799943 Htr6 5-hydroxytryptamine receptor 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733226 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8799943 Htr6 5-hydroxytryptamine receptor 6 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:733226 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8799943 Htr6 5-hydroxytryptamine receptor 6 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:733226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8799943 Htr6 5-hydroxytryptamine receptor 6 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:733226 D RGD:9068941 20200806 RGD DNA:silent mutation:cds: 267C>T (human) PMID:10624811|REF_RGD_ID:1358662 8799943 Htr6 5-hydroxytryptamine receptor 6 gene DOID:5419 schizophrenia ISO RGD:733226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12165372 8799943 Htr6 5-hydroxytryptamine receptor 6 gene DOID:630 genetic disease ISO RGD:733226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799943 Htr6 5-hydroxytryptamine receptor 6 gene DOID:670 amphetamine abuse ISO RGD:733226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20705401 8799943 Htr6 5-hydroxytryptamine receptor 6 gene DOID:8646 substance-induced psychosis ISO RGD:733226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20705401 8799943 Htr6 5-hydroxytryptamine receptor 6 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8799943 Htr6 5-hydroxytryptamine receptor 6 gene DOID:9008023 Memory Disorders ISO RGD:733226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19733250 8799950 Fgfbp1 fibroblast growth factor binding protein 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350352 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8799950 Fgfbp1 fibroblast growth factor binding protein 1 gene DOID:630 genetic disease ISO RGD:1350352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799971 Cer1 cerberus 1, DAN family BMP antagonist gene DOID:630 genetic disease ISO RGD:1347243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799971 Cer1 cerberus 1, DAN family BMP antagonist gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:1347243 D RGD:9068941 20200716 RGD DNA:SNPs: :rs3747532, rs1494360(human) PMID:19113921|REF_RGD_ID:35673321 8799990 Adi1 acireductone dioxygenase 1 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1602478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 8799990 Adi1 acireductone dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1602478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8799990 Adi1 acireductone dioxygenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17786183 8799998 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1313339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8799998 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1313339 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8799998 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:1059 intellectual disability ISO RGD:1313339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8799998 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1313339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8799998 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1313339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8799998 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1313339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8799998 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1313339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8799998 Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 gene DOID:630 genetic disease ISO RGD:1313339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800031 Acod1 aconitate decarboxylase 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2292071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8800045 Stc1 stanniocalcin 1 gene DOID:630 genetic disease ISO RGD:730961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800045 Stc1 stanniocalcin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:621776 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15485913|REF_RGD_ID:2324700 8800053 Palm paralemmin gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1344376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8800053 Palm paralemmin gene DOID:5339 cyclic hematopoiesis ISO RGD:1344376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8800053 Palm paralemmin gene DOID:630 genetic disease ISO RGD:1344376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8800067 Iqcf3 IQ motif containing F3 gene DOID:630 genetic disease ISO RGD:1353537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800074 Akirin1 akirin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8800074 Akirin1 akirin 1 gene DOID:630 genetic disease ISO RGD:1606232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800101 Btbd2 BTB domain containing 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1344972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8800101 Btbd2 BTB domain containing 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1344972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8800101 Btbd2 BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1344972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800101 Btbd2 BTB domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8800117 Polr2d RNA polymerase II subunit D gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1318411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8800117 Polr2d RNA polymerase II subunit D gene DOID:630 genetic disease ISO RGD:1318411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800130 Psors1c2 psoriasis susceptibility 1 candidate 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1349813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8800130 Psors1c2 psoriasis susceptibility 1 candidate 2 gene DOID:11372 megacolon ISO RGD:1349813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8800130 Psors1c2 psoriasis susceptibility 1 candidate 2 gene DOID:630 genetic disease ISO RGD:1349813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800130 Psors1c2 psoriasis susceptibility 1 candidate 2 gene DOID:9538 multiple myeloma ISO RGD:1349813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955597 8800139 Ca6 carbonic anhydrase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1323700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8800139 Ca6 carbonic anhydrase 6 gene DOID:630 genetic disease ISO RGD:1323700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800139 Ca6 carbonic anhydrase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8800159 Derl1 derlin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1346784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8800159 Derl1 derlin 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1346784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8800159 Derl1 derlin 1 gene DOID:630 genetic disease ISO RGD:1346784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800184 Hspa2 heat shock protein family A (Hsp70) member 2 gene DOID:630 genetic disease ISO RGD:735843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800184 Hspa2 heat shock protein family A (Hsp70) member 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:735843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8800184 Hspa2 heat shock protein family A (Hsp70) member 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:0080690 RASopathy ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:0110651 long QT syndrome 10 ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:0111971 immunodeficiency 18 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:0111972 immunodeficiency 19 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:0111973 immunodeficiency 17 ISO RGD:1604184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:5419 schizophrenia ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:630 genetic disease ISO RGD:1604184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8800213 Drc12 dynein regulatory complex subunit 12 homolog gene DOID:9007661 Dwarfism ISO RGD:1604184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1350049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities ISO RGD:1350049 D RGD:7240710 20231220 OMIM 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities ISO RGD:1350049 D RGD:8554872 20231226 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868|PMID:37071997 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350049 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:10534 stomach cancer ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach (human) PMID:20938052|REF_RGD_ID:11038731 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:1059 intellectual disability ISO RGD:1350049 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:1591 renovascular hypertension treatment ISO RGD:1587490 D RGD:9068941 20240118 RGD PMID:26619200|REF_RGD_ID:401940196 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:219 colon cancer ISO RGD:1350049 D RGD:9068941 20200609 RGD protein:increased expression:colon (human) PMID:17310252|REF_RGD_ID:11038730 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350049 D RGD:9068941 20210917 RGD protein:increased expression:lung epithelium PMID:23071587|REF_RGD_ID:150429662 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350049 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:20682707|REF_RGD_ID:11038729 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1350049 D RGD:9068941 20210917 RGD PMID:23071587|REF_RGD_ID:150429662 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1350049 D RGD:9068941 20210917 RGD PMID:23071587|REF_RGD_ID:150429662 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:5419 schizophrenia ISO RGD:1350049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:5844 myocardial infarction treatment ISO RGD:1587490 D RGD:9068941 20231221 RGD protein:increased phosphorylation:heart left ventricle(rat) PMID:26067684|REF_RGD_ID:11097969 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:630 genetic disease ISO RGD:1350049 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:633 myositis ISO RGD:1350049 D RGD:9068941 20200609 RGD protein:decreased expression:muscle (human) PMID:16574722|REF_RGD_ID:11038773 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1587490 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:23633480|REF_RGD_ID:9685423 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:23228155|REF_RGD_ID:11038774 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:8692 myeloid leukemia ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:23228155|REF_RGD_ID:11038774 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1350049 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:altered expression:uterine cervix (human) PMID:19718710|REF_RGD_ID:11039410 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland (human) PMID:23462647|REF_RGD_ID:11038736 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350049 D RGD:9068941 20200609 RGD mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1587490 D RGD:9068941 20240118 RGD PMID:26619200|REF_RGD_ID:401940196 8800240 Srsf1 serine and arginine rich splicing factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1621394 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:15390079|REF_RGD_ID:11038777 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:0060439 lysinuric protein intolerance ISO RGD:734118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:0080696 Winchester syndrome ISO RGD:734118 D RGD:7240710 20180130 OMIM 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:0080696 Winchester syndrome ISO RGD:734118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Winchester syndrome PMID:22922033|PMID:25741868|PMID:4238825 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:10941 intracranial aneurysm ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:9724118|REF_RGD_ID:1582590 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:11713 diabetic angiopathy ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:12477149|REF_RGD_ID:1582581 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:12930 dilated cardiomyopathy ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:11034943|REF_RGD_ID:1582586 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:12930 dilated cardiomyopathy ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:16037568|REF_RGD_ID:1582576 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:13001 carotid stenosis ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:16147977|REF_RGD_ID:1582575 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734118 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:14323 Marfan syndrome ISO RGD:734118 D RGD:9068941 20200609 RGD associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:2316 brain ischemia ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:15963646|REF_RGD_ID:1582577 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:2349 arteriosclerosis ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:2349 arteriosclerosis ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:10731924|PMID:12526080|REF_RGD_ID:1582580|REF_RGD_ID:1582588 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:2349 arteriosclerosis ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:2671 transitional cell carcinoma ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:9751409|REF_RGD_ID:2314950 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:2986 IgA glomerulonephritis ISO RGD:620198 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:9848780|REF_RGD_ID:2314955 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:299 adenocarcinoma ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19661247 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:326 ischemia ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:16077081|REF_RGD_ID:1582563 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:3454 brain infarction ISO RGD:620198 D RGD:9068941 20230527 RGD mRNA:increased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:3459 breast carcinoma disease_progression ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:9158005|REF_RGD_ID:2314951 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734118 D RGD:9068941 20220526 RGD protein:increased expression: esophagus PMID:24789592|REF_RGD_ID:152600903 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620198 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, macrophage PMID:10878552|REF_RGD_ID:2314954 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:734118 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs2236302) (human) PMID:21472143|REF_RGD_ID:126925218 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:5844 myocardial infarction ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:10773235|REF_RGD_ID:1582587 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:5844 myocardial infarction ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:16461815|REF_RGD_ID:1582569 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:6000 congestive heart failure disease_progression ISO RGD:620198 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle (rat) PMID:10773235|REF_RGD_ID:1582587 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:630 genetic disease ISO RGD:734118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:684 hepatocellular carcinoma ISO RGD:734118 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:7148 rheumatoid arthritis ISO RGD:734119 D RGD:9068941 20220825 MouseDO OMIM:180300 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:7693 abdominal aortic aneurysm ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:15300177|REF_RGD_ID:1582579 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:7693 abdominal aortic aneurysm ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19010778 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:7693 abdominal aortic aneurysm ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:11877705|REF_RGD_ID:1582584 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9000117 Esophageal Neoplasms ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9000265 Specific Granule Deficiency ISO RGD:734118 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9002522 Embolism ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:15920147|REF_RGD_ID:1582578 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9003871 Venous Thrombosis ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:16171603|REF_RGD_ID:1582570 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:734118 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9005175 Ulcer ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:12452868|REF_RGD_ID:1582583 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9005539 Familial Prostate Cancer ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9007188 Liver Neoplasms ISO RGD:734118 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23804419 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9008527 Chlamydophila Infections ISO RGD:620198 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9008527 Chlamydophila Infections ISO RGD:734118 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9008527 Chlamydophila Infections ISO RGD:734119 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 8800252 Mmp14 matrix metallopeptidase 14 gene DOID:9008939 Breast Neoplasms ISO RGD:734118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 8800273 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:0060041 autism spectrum disorder ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545|PMID:30504930 8800273 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314601 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 8800273 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:11983 Prader-Willi syndrome ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 8800273 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:12849 autistic disorder ISO RGD:1314601 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 8800273 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:1932 Angelman syndrome ISO RGD:1314601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:12210318|PMID:18821858|PMID:22190369|PMID:23495136|PMID:24088041|PMID:25099823|PMID:25212744|PMID:25884337|PMID:26633545|PMID:28492532 8800273 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:5419 schizophrenia ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8800273 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:630 genetic disease ISO RGD:1314601 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8800273 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8800273 Atp10a ATPase phospholipid transporting 10A (putative) gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1314601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26950270|PMID:28053010|PMID:28492532 8800297 Smc1b structural maintenance of chromosomes 1B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1318766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8800297 Smc1b structural maintenance of chromosomes 1B gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1318766 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8800297 Smc1b structural maintenance of chromosomes 1B gene DOID:1059 intellectual disability ISO RGD:1318766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8800297 Smc1b structural maintenance of chromosomes 1B gene DOID:11054 urinary bladder cancer ISO RGD:1318766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 8800297 Smc1b structural maintenance of chromosomes 1B gene DOID:2661 myoepithelioma ISO RGD:1318766 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8800297 Smc1b structural maintenance of chromosomes 1B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8800297 Smc1b structural maintenance of chromosomes 1B gene DOID:630 genetic disease ISO RGD:1318766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800326 Slc5a9 solute carrier family 5 member 9 gene DOID:630 genetic disease ISO RGD:1322816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800357 Mcam melanoma cell adhesion molecule gene DOID:0060017 CD3epsilon deficiency ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8800357 Mcam melanoma cell adhesion molecule gene DOID:0060837 isolated microphthalmia 5 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8800357 Mcam melanoma cell adhesion molecule gene DOID:0080690 RASopathy ISO RGD:732868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8800357 Mcam melanoma cell adhesion molecule gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8800357 Mcam melanoma cell adhesion molecule gene DOID:0111971 immunodeficiency 18 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8800357 Mcam melanoma cell adhesion molecule gene DOID:0111972 immunodeficiency 19 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8800357 Mcam melanoma cell adhesion molecule gene DOID:0111973 immunodeficiency 17 ISO RGD:732868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8800357 Mcam melanoma cell adhesion molecule gene DOID:1790 malignant mesothelioma ISO RGD:732868 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439|PMID:23621518 8800357 Mcam melanoma cell adhesion molecule gene DOID:1790 malignant mesothelioma disease_progression ISO RGD:620463 D RGD:9068941 20200609 RGD PMID:23621518|REF_RGD_ID:7364782 8800357 Mcam melanoma cell adhesion molecule gene DOID:1875 impotence ISO RGD:620463 D RGD:9068941 20200609 RGD protein:decreased expression:penis erectile tissue PMID:24023647|REF_RGD_ID:7364777 8800357 Mcam melanoma cell adhesion molecule gene DOID:2377 multiple sclerosis ISO RGD:732868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23595028 8800357 Mcam melanoma cell adhesion molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732868 D RGD:9068941 20200609 RGD PMID:23649916|REF_RGD_ID:7364780 8800357 Mcam melanoma cell adhesion molecule gene DOID:438 autoimmune disease of the nervous system ISO RGD:732868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23595028 8800357 Mcam melanoma cell adhesion molecule gene DOID:5419 schizophrenia ISO RGD:732868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8800357 Mcam melanoma cell adhesion molecule gene DOID:6039 uveal melanoma disease_progression ISO RGD:732868 D RGD:9068941 20200609 RGD PMID:19958117|REF_RGD_ID:7364775 8800357 Mcam melanoma cell adhesion molecule gene DOID:630 genetic disease ISO RGD:732868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800357 Mcam melanoma cell adhesion molecule gene DOID:9001579 Neurogenic Inflammation ISO RGD:732868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23595028 8800357 Mcam melanoma cell adhesion molecule gene DOID:9001834 Peritoneal Neoplasms ISO RGD:732868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439|PMID:23621518 8800357 Mcam melanoma cell adhesion molecule gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:620463 D RGD:9068941 20200609 RGD PMID:10076889|REF_RGD_ID:7364787 8800357 Mcam melanoma cell adhesion molecule gene DOID:9002884 Emphysema ISO RGD:620463 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:23649916|REF_RGD_ID:7364780 8800357 Mcam melanoma cell adhesion molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8800357 Mcam melanoma cell adhesion molecule gene DOID:9007661 Dwarfism ISO RGD:732868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8800379 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1316997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8800379 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1316997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8800379 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1316997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8800379 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:10907 microcephaly ISO RGD:1316997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8800379 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:1826 epilepsy ISO RGD:1316997 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8800379 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:630 genetic disease ISO RGD:1316997 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800379 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:9000495 Tremor ISO RGD:1316997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8800379 Zup1 zinc finger containing ubiquitin peptidase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316997 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8800397 Guf1 GTP binding elongation factor GUF1 gene DOID:0080427 developmental and epileptic encephalopathy 40 ISO RGD:1602319 D RGD:7240710 20190315 OMIM 8800397 Guf1 GTP binding elongation factor GUF1 gene DOID:0080427 developmental and epileptic encephalopathy 40 ISO RGD:1602319 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 40 PMID:25741868|PMID:26486472|PMID:28492532|PMID:30945278 8800397 Guf1 GTP binding elongation factor GUF1 gene DOID:2843 long QT syndrome ISO RGD:1602319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8800397 Guf1 GTP binding elongation factor GUF1 gene DOID:630 genetic disease ISO RGD:1602319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8800425 Evx2 even-skipped homeobox 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1348415 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8800425 Evx2 even-skipped homeobox 2 gene DOID:630 genetic disease ISO RGD:1348415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800431 Il33 interleukin 33 gene DOID:0050256 angiostrongyliasis ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:24076431|REF_RGD_ID:40400715 8800431 Il33 interleukin 33 gene DOID:0050256 angiostrongyliasis ISO RGD:1322462 D RGD:9068941 20201105 RGD protein:increased expression:brain: PMID:23148283|REF_RGD_ID:40400713 8800431 Il33 interleukin 33 gene DOID:0050589 inflammatory bowel disease severity ISO RGD:1322461 D RGD:9068941 20201015 RGD PMID:24491821|REF_RGD_ID:39938952 8800431 Il33 interleukin 33 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1322461 D RGD:9068941 20201016 RGD PMID:25193287|REF_RGD_ID:39938972 8800431 Il33 interleukin 33 gene DOID:0060180 colitis severity ISO RGD:1322461 D RGD:9068941 20201023 RGD PMID:28423665|REF_RGD_ID:39939041 8800431 Il33 interleukin 33 gene DOID:0060180 colitis severity ISO RGD:1322462 D RGD:9068941 20201030 RGD PMID:23172891|REF_RGD_ID:40400694 8800431 Il33 interleukin 33 gene DOID:0060185 Clostridium difficile colitis severity ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:32156806|REF_RGD_ID:40400894 8800431 Il33 interleukin 33 gene DOID:0060185 Clostridium difficile colitis treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:32156806|REF_RGD_ID:40400894 8800431 Il33 interleukin 33 gene DOID:0060496 respiratory allergy treatment ISO RGD:1322462 D RGD:9068941 20201030 RGD PMID:25424936|REF_RGD_ID:40400692 8800431 Il33 interleukin 33 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1322461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8800431 Il33 interleukin 33 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1322462 D RGD:9068941 20201030 RGD associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: PMID:26518437|REF_RGD_ID:11343232 8800431 Il33 interleukin 33 gene DOID:10230 aortic atherosclerosis ISO RGD:1322461 D RGD:9068941 20230420 RGD protein:increased expression:artery: PMID:31043075|REF_RGD_ID:267986209 8800431 Il33 interleukin 33 gene DOID:10283 prostate cancer ISO RGD:1322461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8800431 Il33 interleukin 33 gene DOID:10459 common cold ISO RGD:1322461 D RGD:9068941 20201023 RGD protein:increased expression:nasal mucus PMID:28471975|REF_RGD_ID:38596342 8800431 Il33 interleukin 33 gene DOID:106 pleural tuberculosis ISO RGD:1322461 D RGD:9068941 20201023 RGD protein:increased expression:pleural fluid: PMID:23301222|REF_RGD_ID:39939042 8800431 Il33 interleukin 33 gene DOID:10652 Alzheimer's disease ISO RGD:1322462 D RGD:9068941 20220825 MouseDO OMIM:608907 8800431 Il33 interleukin 33 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:1322461 D RGD:9068941 20201105 RGD PMID:25658420|REF_RGD_ID:40400702 8800431 Il33 interleukin 33 gene DOID:11339 pneumocystosis treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:21220696|REF_RGD_ID:40400892 8800431 Il33 interleukin 33 gene DOID:11396 pulmonary edema ISO RGD:1322461 D RGD:9068941 20201105 RGD associated with Plasmodium falciparum malaria;protein:increased expression:lung PMID:26437894|REF_RGD_ID:11342349 8800431 Il33 interleukin 33 gene DOID:11573 listeriosis treatment ISO RGD:1322462 D RGD:9068941 20201030 RGD PMID:25577440|REF_RGD_ID:40400693 8800431 Il33 interleukin 33 gene DOID:12053 cryptococcosis ISO RGD:1322462 D RGD:9068941 20200827 RGD mRNA:increased expression:lung (mouse) PMID:27596810|REF_RGD_ID:38549345 8800431 Il33 interleukin 33 gene DOID:12205 dengue disease severity ISO RGD:1322462 D RGD:9068941 20201015 RGD PMID:30098206|REF_RGD_ID:39938828 8800431 Il33 interleukin 33 gene DOID:12365 malaria ISO RGD:1322462 D RGD:9068941 20201015 RGD protein:increased expression:serum: PMID:28359899|REF_RGD_ID:39938859 8800431 Il33 interleukin 33 gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:1322461 D RGD:9068941 20201015 RGD PMID:28992214|REF_RGD_ID:39938858 8800431 Il33 interleukin 33 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:26044350|PMID:28771101|REF_RGD_ID:11342984|REF_RGD_ID:39939029 8800431 Il33 interleukin 33 gene DOID:13189 gout ISO RGD:1322461 D RGD:9068941 20201105 RGD PMID:30863362|REF_RGD_ID:40400717 8800431 Il33 interleukin 33 gene DOID:13767 clonorchiasis ISO RGD:1322461 D RGD:9068941 20201022 RGD protein:increased expression:serum: PMID:26944417|REF_RGD_ID:39939001 8800431 Il33 interleukin 33 gene DOID:13767 clonorchiasis ISO RGD:1322462 D RGD:9068941 20201022 RGD mRNA,protein:increased expression:liver, serum: PMID:26944417|REF_RGD_ID:39939001 8800431 Il33 interleukin 33 gene DOID:1395 schistosomiasis ISO RGD:1322462 D RGD:9068941 20201015 RGD mRNA,protein:increased expression:liver PMID:29554131|REF_RGD_ID:39938854 8800431 Il33 interleukin 33 gene DOID:14069 cerebral malaria ISO RGD:1322462 D RGD:9068941 20201105 RGD protein:increased expression:brain PMID:25682948|REF_RGD_ID:40400741 8800431 Il33 interleukin 33 gene DOID:14069 cerebral malaria treatment ISO RGD:1322462 D RGD:9068941 20201015 RGD PMID:25659095|REF_RGD_ID:39938955 8800431 Il33 interleukin 33 gene DOID:1508 candidiasis treatment ISO RGD:1322461 D RGD:9068941 20201105 RGD PMID:22661085|REF_RGD_ID:40400896 8800431 Il33 interleukin 33 gene DOID:219 colon cancer treatment ISO RGD:1311155 D RGD:9068941 20201023 RGD associated with colitis; PMID:31407335|REF_RGD_ID:39939040 8800431 Il33 interleukin 33 gene DOID:2841 asthma ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610|PMID:21804549|PMID:24241537|PMID:27472835|PMID:29067999 8800431 Il33 interleukin 33 gene DOID:2841 asthma severity ISO RGD:1322461 D RGD:9068941 20201016 RGD associated with fungal infectious disease PMID:25746970|REF_RGD_ID:39938968 8800431 Il33 interleukin 33 gene DOID:2841 asthma treatment ISO RGD:1322462 D RGD:9068941 20201022 RGD associated with viral pneumonia; PMID:28947081|REF_RGD_ID:39939002 8800431 Il33 interleukin 33 gene DOID:2957 pulmonary tuberculosis ISO RGD:1322462 D RGD:9068941 20201016 RGD PMID:28128217|REF_RGD_ID:39938965 8800431 Il33 interleukin 33 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:lung: PMID:30952808|REF_RGD_ID:40400740 8800431 Il33 interleukin 33 gene DOID:3310 atopic dermatitis ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 8800431 Il33 interleukin 33 gene DOID:399 tuberculosis ISO RGD:1322461 D RGD:9068941 20201105 RGD associated with Pleural Effusion;protein:increased expression:pleural biopsy PMID:25755791|REF_RGD_ID:40400701 8800431 Il33 interleukin 33 gene DOID:5082 liver cirrhosis severity ISO RGD:1322461 D RGD:9068941 20201030 RGD PMID:31053540|REF_RGD_ID:40400690 8800431 Il33 interleukin 33 gene DOID:5082 liver cirrhosis severity ISO RGD:1322462 D RGD:9068941 20201015 RGD associated with Schistosomiasis Japonica PMID:31200771|REF_RGD_ID:39938956 8800431 Il33 interleukin 33 gene DOID:552 pneumonia ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 8800431 Il33 interleukin 33 gene DOID:557 kidney disease ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21949094 8800431 Il33 interleukin 33 gene DOID:630 genetic disease ISO RGD:1322461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800431 Il33 interleukin 33 gene DOID:646 viral encephalitis ISO RGD:1322462 D RGD:9068941 20201008 RGD mRNA,protein:increased expression:brain,F4/80+ cell PMID:27334012|REF_RGD_ID:39457934 8800431 Il33 interleukin 33 gene DOID:750 peptic ulcer disease susceptibility ISO RGD:1322461 D RGD:9068941 20201015 RGD associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) PMID:31491552|REF_RGD_ID:39938849 8800431 Il33 interleukin 33 gene DOID:824 periodontitis ISO RGD:1322462 D RGD:9068941 20201015 RGD associated with Gram-Negative Bacterial Infections;mRNA:increased expression:gingvia PMID:25808546|REF_RGD_ID:39938855 8800431 Il33 interleukin 33 gene DOID:824 periodontitis severity ISO RGD:1322462 D RGD:9068941 20201015 RGD associated with Gram-Negative Bacterial Infections; PMID:25808546|REF_RGD_ID:39938855 8800431 Il33 interleukin 33 gene DOID:8469 influenza ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:28401938|REF_RGD_ID:40400699 8800431 Il33 interleukin 33 gene DOID:8566 herpes simplex ISO RGD:1322461 D RGD:9068941 20201022 RGD protein:increased expression:skin PMID:26872602|REF_RGD_ID:39939003 8800431 Il33 interleukin 33 gene DOID:8566 herpes simplex ISO RGD:1322462 D RGD:9068941 20201022 RGD protein:increased expression:skin PMID:26872602|REF_RGD_ID:39939003 8800431 Il33 interleukin 33 gene DOID:8577 ulcerative colitis ISO RGD:1322461 D RGD:9068941 20201015 RGD mRNA:increased expression:sigmoid colon PMID:25112700|REF_RGD_ID:39938951 8800431 Il33 interleukin 33 gene DOID:8577 ulcerative colitis severity ISO RGD:1322461 D RGD:9068941 20201112 RGD PMID:21037074|REF_RGD_ID:40813742 8800431 Il33 interleukin 33 gene DOID:8577 ulcerative colitis treatment ISO RGD:1322462 D RGD:9068941 20201016 RGD PMID:28802904|REF_RGD_ID:39938966 8800431 Il33 interleukin 33 gene DOID:883 parasitic helminthiasis infectious disease treatment ISO RGD:1322462 D RGD:9068941 20201022 RGD PMID:25912172|REF_RGD_ID:39939026 8800431 Il33 interleukin 33 gene DOID:9000099 Experimental Colitis severity ISO RGD:1322462 D RGD:9068941 20201015 RGD PMID:25112700|REF_RGD_ID:39938951 8800431 Il33 interleukin 33 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1322462 D RGD:9068941 20201023 RGD PMID:28423665|REF_RGD_ID:39939041 8800431 Il33 interleukin 33 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:28041873|REF_RGD_ID:40400900 8800431 Il33 interleukin 33 gene DOID:9001004 Chronic Periodontitis ISO RGD:1322461 D RGD:9068941 20201015 RGD mRNA, protein:increased expression:gingiva PMID:25808546|REF_RGD_ID:39938855 8800431 Il33 interleukin 33 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA:increased expression:lung: PMID:28401938|REF_RGD_ID:40400699 8800431 Il33 interleukin 33 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8800431 Il33 interleukin 33 gene DOID:9002211 Hyperalgesia ISO RGD:1311155 D RGD:9068941 20201105 RGD PMID:29329586|REF_RGD_ID:40400909 8800431 Il33 interleukin 33 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1322461 D RGD:9068941 20201022 RGD protein:increased expression:serum PMID:22590860|REF_RGD_ID:39939027 8800431 Il33 interleukin 33 gene DOID:9002433 Schistosomiasis Japonica severity ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:25944738|REF_RGD_ID:40400890 8800431 Il33 interleukin 33 gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:25944738|REF_RGD_ID:40400890 8800431 Il33 interleukin 33 gene DOID:9002457 Experimental Arthritis ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20472598 8800431 Il33 interleukin 33 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1322461 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22967010 8800431 Il33 interleukin 33 gene DOID:9002992 Nematode Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD associated with Nippostrongylus brasiliensis infection; mRNA:increased expression:lung PMID:22331917|REF_RGD_ID:40400742 8800431 Il33 interleukin 33 gene DOID:9003369 Strongylida Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA:increased expression:lung PMID:22331917|REF_RGD_ID:40400742 8800431 Il33 interleukin 33 gene DOID:9003603 Hemolysis ISO RGD:1322461 D RGD:9068941 20201030 RGD associated with sickle cell anemia;protein:increased expression:plasma: PMID:26107423|REF_RGD_ID:40400691 8800431 Il33 interleukin 33 gene DOID:9003936 Cardiomegaly ISO RGD:1322462 D RGD:9068941 20201112 RGD protein:increased expression:cardiomyocyte PMID:17492053|REF_RGD_ID:40813740 8800431 Il33 interleukin 33 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1311155 D RGD:9068941 20201112 RGD PMID:17492053|REF_RGD_ID:40813740 8800431 Il33 interleukin 33 gene DOID:9004036 Superinfection ISO RGD:1322462 D RGD:9068941 20201105 RGD influenza and Pneumonia, Staphylococcal PMID:28401938|REF_RGD_ID:40400699 8800431 Il33 interleukin 33 gene DOID:9004484 Sepsis ISO RGD:1322461 D RGD:9068941 20201105 RGD protein:increased expression:plasma: PMID:29935165|REF_RGD_ID:40400895 8800431 Il33 interleukin 33 gene DOID:9004484 Sepsis ISO RGD:1322462 D RGD:9068941 20201022 RGD protein:increased expression:plasma,lung PMID:29672927|REF_RGD_ID:39939028 8800431 Il33 interleukin 33 gene DOID:9004484 Sepsis ISO RGD:1322462 D RGD:9068941 20201105 RGD protein:increased expression:plasma, peritoneal fluid: PMID:29935165|REF_RGD_ID:40400895 8800431 Il33 interleukin 33 gene DOID:9004484 Sepsis severity ISO RGD:1322461 D RGD:9068941 20201105 RGD PMID:25665614|REF_RGD_ID:40400739 8800431 Il33 interleukin 33 gene DOID:9004531 Cardiovirus Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA:increased expression:brain: PMID:18552204|REF_RGD_ID:40400716 8800431 Il33 interleukin 33 gene DOID:9005724 Fungal Lung Diseases ISO RGD:1322462 D RGD:9068941 20201016 RGD protein:increased expression:lung PMID:25746970|REF_RGD_ID:39938968 8800431 Il33 interleukin 33 gene DOID:9005966 Staphylococcal Skin Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:skin PMID:23892028|REF_RGD_ID:40400893 8800431 Il33 interleukin 33 gene DOID:9005966 Staphylococcal Skin Infections treatment ISO RGD:1322462 D RGD:9068941 20201105 RGD PMID:23892028|REF_RGD_ID:40400893 8800431 Il33 interleukin 33 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:1311155 D RGD:9068941 20201105 RGD protein:increased expression:spinal cord: PMID:29329586|REF_RGD_ID:40400909 8800431 Il33 interleukin 33 gene DOID:9006535 Hookworm Infections ISO RGD:1322462 D RGD:9068941 20201015 RGD mRNA,protein:increased expression:Bronchoalveolar lavage, epithelium, macrophage PMID:22329990|REF_RGD_ID:39938827 8800431 Il33 interleukin 33 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1322461 D RGD:9068941 20201023 RGD protein:increased expression:nasal mucus PMID:28471975|REF_RGD_ID:38596342 8800431 Il33 interleukin 33 gene DOID:9007417 Pseudomonas Infections ISO RGD:1322462 D RGD:9068941 20201105 RGD mRNA:increased expression:lung: PMID:28401938|REF_RGD_ID:40400699 8800431 Il33 interleukin 33 gene DOID:9008114 Helicobacter Infections ISO RGD:1322461 D RGD:9068941 20201022 RGD mRNA:increased expression:stomach PMID:31320834|REF_RGD_ID:39939030 8800431 Il33 interleukin 33 gene DOID:9008114 Helicobacter Infections severity ISO RGD:1322461 D RGD:9068941 20201015 RGD associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) PMID:31491552|REF_RGD_ID:39938849 8800431 Il33 interleukin 33 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1322461 D RGD:9068941 20201008 RGD PMID:27180842|REF_RGD_ID:39457933 8800431 Il33 interleukin 33 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1322462 D RGD:9068941 20201015 RGD PMID:25714983|REF_RGD_ID:39938954 8800431 Il33 interleukin 33 gene DOID:9351 diabetes mellitus ISO RGD:1311155 D RGD:9068941 20201105 RGD protein:increased expression:serum,ovary PMID:28412870|REF_RGD_ID:40400904 8800431 Il33 interleukin 33 gene DOID:9408 acute myocardial infarction ISO RGD:1311155 D RGD:9068941 20201112 RGD PMID:24837094|REF_RGD_ID:40813741 8800431 Il33 interleukin 33 gene DOID:9778 irritable bowel syndrome severity ISO RGD:1322461 D RGD:9068941 20201030 RGD PMID:23172891|REF_RGD_ID:40400694 8800445 A3galt2 alpha 1,3-galactosyltransferase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8800458 Syap1 synapse associated protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8800458 Syap1 synapse associated protein 1 gene DOID:12849 autistic disorder ISO RGD:1353710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8800458 Syap1 synapse associated protein 1 gene DOID:630 genetic disease ISO RGD:1353710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800458 Syap1 synapse associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8800480 Rtl9 retrotransposon Gag like 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8800480 Rtl9 retrotransposon Gag like 9 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 8800480 Rtl9 retrotransposon Gag like 9 gene DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 8800480 Rtl9 retrotransposon Gag like 9 gene DOID:12849 autistic disorder ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8800480 Rtl9 retrotransposon Gag like 9 gene DOID:5419 schizophrenia ISO RGD:1352806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8800480 Rtl9 retrotransposon Gag like 9 gene DOID:630 genetic disease ISO RGD:1352806 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800487 Wdr6 WD repeat domain 6 gene DOID:630 genetic disease ISO RGD:1316962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800487 Wdr6 WD repeat domain 6 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1316962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8800487 Wdr6 WD repeat domain 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1316962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8800487 Wdr6 WD repeat domain 6 gene DOID:9007661 Dwarfism ISO RGD:1316962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:0080600 COVID-19 ISO RGD:732557 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:0080855 Parkinsonism ISO RGD:732557 D RGD:9068941 20200609 RGD PMID:24825319|REF_RGD_ID:13504672 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:10283 prostate cancer ISO RGD:732557 D RGD:9068941 20200609 RGD DNA:SNP: :rs7250897 (human) PMID:28977864|REF_RGD_ID:13504673 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:11832 visual epilepsy treatment ISO RGD:621575 D RGD:9068941 20200609 RGD PMID:17893921|REF_RGD_ID:10003051 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:14330 Parkinson's disease ISO RGD:732557 D RGD:9068941 20200609 RGD PMID:24825319|REF_RGD_ID:13504672 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:1826 epilepsy ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17893921 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:5844 myocardial infarction ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25488258 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:630 genetic disease ISO RGD:732557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:699 mitochondrial myopathy ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8726225 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25488258 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621575 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:19634143|REF_RGD_ID:10003054 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25488258 8800499 Vdac1 voltage dependent anion channel 1 gene DOID:9008514 Psychomotor Disorders ISO RGD:732557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8726225 8800511 Atxn7l3 ataxin 7 like 3 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1342958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 8800511 Atxn7l3 ataxin 7 like 3 gene DOID:630 genetic disease ISO RGD:1342958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1314918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0080231 autosomal dominant intellectual developmental disorder 52 ISO RGD:1314918 D RGD:7240710 20190315 OMIM 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0080231 autosomal dominant intellectual developmental disorder 52 ISO RGD:1314918 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ASH1L-Related Disorder | ClinVar Annotator: match by term: ASH1L-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 52 PMID:23033978|PMID:25363760|PMID:25741868|PMID:25961944|PMID:27824329|PMID:28191889|PMID:28394464|PMID:28492532|PMID:29276005 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0111940 immunodeficiency 42 ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1314918 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:5812 MHC class II deficiency ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1314918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30564305 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314918 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:9007188 Liver Neoplasms ISO RGD:1314918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1314918 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1314918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8800539 Ash1l ASH1 like histone lysine methyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8800572 Pcna proliferating cell nuclear antigen gene DOID:0080178 mucositis ISO RGD:3269 D RGD:9068941 20200609 RGD protein:decreased expression:intestine: PMID:21080177|REF_RGD_ID:10448991 8800572 Pcna proliferating cell nuclear antigen gene DOID:0081385 ataxia-telangiectasia-like disorder-2 ISO RGD:732094 D RGD:7240710 20180130 OMIM 8800572 Pcna proliferating cell nuclear antigen gene DOID:0081385 ataxia-telangiectasia-like disorder-2 ISO RGD:732094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 PMID:24911150|PMID:25741868 8800572 Pcna proliferating cell nuclear antigen gene DOID:0090103 Huntington's disease-like 1 ISO RGD:732094 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8800572 Pcna proliferating cell nuclear antigen gene DOID:10534 stomach cancer ameliorates ISO RGD:732094 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 8800572 Pcna proliferating cell nuclear antigen gene DOID:11446 sciatic neuropathy ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:23014974|REF_RGD_ID:10448976 8800572 Pcna proliferating cell nuclear antigen gene DOID:11476 osteoporosis ISO RGD:3269 D RGD:9068941 20200609 RGD protein:increased expression:osteoblast: PMID:22550338|REF_RGD_ID:10045656 8800572 Pcna proliferating cell nuclear antigen gene DOID:12217 Lewy body dementia ISO RGD:732094 D RGD:9068941 20200609 RGD protein:increased expression:Hippocampal sub ventricular zone,Subgranular layer: PMID:20665591|REF_RGD_ID:10448971 8800572 Pcna proliferating cell nuclear antigen gene DOID:127 leiomyoma ISO RGD:732094 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:18000229|REF_RGD_ID:2292498 8800572 Pcna proliferating cell nuclear antigen gene DOID:127 leiomyoma treatment ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:21896544|REF_RGD_ID:10413890 8800572 Pcna proliferating cell nuclear antigen gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121042 8800572 Pcna proliferating cell nuclear antigen gene DOID:13603 obstructive jaundice treatment ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:12917765|REF_RGD_ID:10448973 8800572 Pcna proliferating cell nuclear antigen gene DOID:1459 hypothyroidism ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:21273639|REF_RGD_ID:10448988 8800572 Pcna proliferating cell nuclear antigen gene DOID:2154 nephroblastoma disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:11869017|REF_RGD_ID:2315007 8800572 Pcna proliferating cell nuclear antigen gene DOID:224 transient cerebral ischemia ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:9757027|REF_RGD_ID:10448974 8800572 Pcna proliferating cell nuclear antigen gene DOID:2316 brain ischemia ISO RGD:3269 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:12099899|REF_RGD_ID:729592 8800572 Pcna proliferating cell nuclear antigen gene DOID:299 adenocarcinoma ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 8800572 Pcna proliferating cell nuclear antigen gene DOID:3008 invasive ductal carcinoma severity ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:8102204|REF_RGD_ID:2315014 8800572 Pcna proliferating cell nuclear antigen gene DOID:326 ischemia ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 8800572 Pcna proliferating cell nuclear antigen gene DOID:3571 liver cancer disease_progression ISO RGD:3269 D RGD:9068941 20220224 RGD protein:increased expression:liver (rat) PMID:11797828|REF_RGD_ID:151356973 8800572 Pcna proliferating cell nuclear antigen gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:732094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8800572 Pcna proliferating cell nuclear antigen gene DOID:4440 seminoma disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:7474604|REF_RGD_ID:2315012 8800572 Pcna proliferating cell nuclear antigen gene DOID:4450 renal cell carcinoma severity ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:11369057|REF_RGD_ID:2315008 8800572 Pcna proliferating cell nuclear antigen gene DOID:630 genetic disease ISO RGD:732094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800572 Pcna proliferating cell nuclear antigen gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3269 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:23219601|REF_RGD_ID:10448993 8800572 Pcna proliferating cell nuclear antigen gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3269 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 8800572 Pcna proliferating cell nuclear antigen gene DOID:687 hepatoblastoma ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11560253 8800572 Pcna proliferating cell nuclear antigen gene DOID:8893 psoriasis ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10384915 8800572 Pcna proliferating cell nuclear antigen gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:10533299|REF_RGD_ID:2315009 8800572 Pcna proliferating cell nuclear antigen gene DOID:9000855 Experimental Radiation Injuries ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21931560 8800572 Pcna proliferating cell nuclear antigen gene DOID:9000965 Neoplasm Metastasis ISO RGD:732094 D RGD:9068941 20200609 RGD associated with Seminoma PMID:9143022|REF_RGD_ID:2315011 8800572 Pcna proliferating cell nuclear antigen gene DOID:9002170 Experimental Neoplasms ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 8800572 Pcna proliferating cell nuclear antigen gene DOID:9002928 Colonic Neoplasms ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472|PMID:19723570 8800572 Pcna proliferating cell nuclear antigen gene DOID:9004207 Testicular Neoplasms disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:7474604|REF_RGD_ID:2315012 8800572 Pcna proliferating cell nuclear antigen gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:10374321|REF_RGD_ID:2315010 8800572 Pcna proliferating cell nuclear antigen gene DOID:9004422 Chagas Cardiomyopathy ISO RGD:3269 D RGD:9068941 20200609 RGD protein:increased expression:myocardium: PMID:12435130|REF_RGD_ID:10448990 8800572 Pcna proliferating cell nuclear antigen gene DOID:9004583 Ataxia Telangiectasia Like Disorder ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8800572 Pcna proliferating cell nuclear antigen gene DOID:9005172 Lung Neoplasms ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884234 8800572 Pcna proliferating cell nuclear antigen gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3269 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mammary gland: PMID:2567593|REF_RGD_ID:10448972 8800572 Pcna proliferating cell nuclear antigen gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:8104336|REF_RGD_ID:10448975 8800572 Pcna proliferating cell nuclear antigen gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:3269 D RGD:9068941 20230216 RGD protein:increased expression:lung (rat) PMID:26485208|REF_RGD_ID:12910856 8800572 Pcna proliferating cell nuclear antigen gene DOID:9006182 Carotid Artery Injuries ISO RGD:732095 D RGD:9068941 20230427 RGD protein:increased expression:vascular smooth muscle cell carotid artery (mouse) PMID:25751394|REF_RGD_ID:329328927 8800572 Pcna proliferating cell nuclear antigen gene DOID:9007502 Brain Neoplasms ISO RGD:732094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 8800572 Pcna proliferating cell nuclear antigen gene DOID:9008691 Liver Injury ISO RGD:3269 D RGD:9068941 20200609 RGD PMID:7906221|REF_RGD_ID:10448980 8800572 Pcna proliferating cell nuclear antigen gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:732094 D RGD:9068941 20200609 RGD PMID:8098267|REF_RGD_ID:2315013 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:22882088|REF_RGD_ID:9587477 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:10283 prostate cancer ISO RGD:1316940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:10283 prostate cancer disease_progression ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:prostate: PMID:19309489|REF_RGD_ID:9587461 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:3068 glioblastoma ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24039914|REF_RGD_ID:9587472 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:3070 high grade glioma disease_progression ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24039914|REF_RGD_ID:9587472 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:403 mouth disease ISO RGD:1316940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:630 genetic disease ISO RGD:1316940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:684 hepatocellular carcinoma ISO RGD:1316940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1316940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:8923 skin melanoma severity ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:20178651|REF_RGD_ID:9587476 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:9003216 Salivary Gland Neoplasms disease_progression ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:salivary gland: PMID:21109952|REF_RGD_ID:9587467 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:9008086 Developmental Disabilities ISO RGD:1316940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 8800582 Chaf1b chromatin assembly factor 1 subunit B gene DOID:9008192 Neoplastic Processes ISO RGD:1316940 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:22882088|REF_RGD_ID:9587477 8800610 Cpox coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:7240710 20180130 OMIM 8800610 Cpox coproporphyrinogen oxidase gene DOID:13269 hereditary coproporphyria ISO RGD:1323470 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CPOX-related condition | ClinVar Annotator: match by term: CPOX-related disorders | ClinVar Annotator: match by term: Coproporphyria | ClinVar Annotator: match by term: Coproporphyria, digenic | ClinVar Annotator: match by term: Hereditary coproporphyria PMID:11309681|PMID:12181641|PMID:12227458|PMID:16159891|PMID:16398658|PMID:17576681|PMID:21231929|PMID:24078084|PMID:25741868|PMID:27959697|PMID:28492532|PMID:30385147|PMID:30594473|PMID:31589614|PMID:33763395|PMID:6886003|PMID:7757079|PMID:7987309|PMID:8159699|PMID:8286403|PMID:8990017|PMID:9298818|PMID:9454777|PMID:9536098|PMID:9843038|PMID:9888388 8800610 Cpox coproporphyrinogen oxidase gene DOID:3132 porphyria cutanea tarda ISO RGD:1323470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11831056 8800610 Cpox coproporphyrinogen oxidase gene DOID:3890 acute intermittent porphyria ISO RGD:1323470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria PMID:28492532 8800610 Cpox coproporphyrinogen oxidase gene DOID:409 liver disease susceptibility ISO RGD:1323470 D RGD:9068941 20200609 RGD Hereditary coproporphyria, OMIM:121300;DNA:transition: :p.G89S PMID:7849704|REF_RGD_ID:1600955 8800610 Cpox coproporphyrinogen oxidase gene DOID:630 genetic disease ISO RGD:1323470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8800610 Cpox coproporphyrinogen oxidase gene DOID:9001983 Harderoporphyria ISO RGD:1323470 D RGD:7240710 20200805 OMIM 8800610 Cpox coproporphyrinogen oxidase gene DOID:9001983 Harderoporphyria ISO RGD:1323470 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Harderoporphyria PMID:16159891|PMID:21103937|PMID:24078084|PMID:25741868|PMID:28492532|PMID:6886003|PMID:7757079|PMID:7987309|PMID:8286403|PMID:9454777 8800610 Cpox coproporphyrinogen oxidase gene DOID:9002457 Experimental Arthritis ISO RGD:1311817 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:9173682|REF_RGD_ID:1600958 8800610 Cpox coproporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1311817 D RGD:9068941 20200609 RGD protein:decreased activity:liver, mitochondrial inner membrane (rat) PMID:19482825|REF_RGD_ID:4144824 8800610 Cpox coproporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1323471 D RGD:9068941 20240127 RGD protein:decreased activity:liver (mouse) PMID:2079105|REF_RGD_ID:19165350 8800621 Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603691 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8800621 Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8800621 Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:630 genetic disease ISO RGD:1603691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800621 Dnajc16 DnaJ heat shock protein family (Hsp40) member C16 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1603691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 8800680 Agk acylglycerol kinase gene DOID:0080132 Sengers syndrome ISO RGD:1352363 D RGD:7240710 20180130 OMIM 8800680 Agk acylglycerol kinase gene DOID:0080132 Sengers syndrome ISO RGD:1352363 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sengers syndrome PMID:15168109|PMID:16199547|PMID:17576681|PMID:22277967|PMID:22284826|PMID:22415731|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26582918|PMID:26633545|PMID:28492532|PMID:28868593|PMID:30634555|PMID:31303091|PMID:34440436|PMID:34948281|PMID:3560758|PMID:9536098 8800680 Agk acylglycerol kinase gene DOID:0080690 RASopathy ISO RGD:1352363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8800680 Agk acylglycerol kinase gene DOID:0110245 cataract 38 ISO RGD:1352363 D RGD:7240710 20180130 OMIM 8800680 Agk acylglycerol kinase gene DOID:0110245 cataract 38 ISO RGD:1352363 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AGK-Related Disorders | ClinVar Annotator: match by term: Cataract 38 PMID:17576681|PMID:22415731|PMID:24088041|PMID:25326637|PMID:25741868|PMID:26582918|PMID:26633545|PMID:28492532|PMID:9536098 8800680 Agk acylglycerol kinase gene DOID:0111415 trichohepatoenteric syndrome 1 ISO RGD:1352363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 PMID:22284826|PMID:23266196|PMID:24088041|PMID:25208612|PMID:25326635|PMID:25741868|PMID:26633545|PMID:28492532|PMID:28868593 8800680 Agk acylglycerol kinase gene DOID:630 genetic disease ISO RGD:1352363 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22415731|PMID:24088041|PMID:25741868|PMID:26582918|PMID:26633545|PMID:28492532 8800680 Agk acylglycerol kinase gene DOID:83 cataract ISO RGD:1352363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 8800706 Prr11 proline rich 11 gene DOID:0050436 mulibrey nanism ISO RGD:1601861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:21681106 8800706 Prr11 proline rich 11 gene DOID:0080600 COVID-19 ISO RGD:1601861 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8800706 Prr11 proline rich 11 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1601861 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8800706 Prr11 proline rich 11 gene DOID:630 genetic disease ISO RGD:1601861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800725 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:0050473 Alstrom syndrome ISO RGD:1315027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 8800725 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8800725 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:12556 acute kidney tubular necrosis ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31825490 8800725 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:3021 acute kidney failure ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31825490 8800725 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8800725 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:543 dystonia ISO RGD:1315027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8800725 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:5844 myocardial infarction ISO RGD:1315027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 PMID:24213632 8800725 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:630 genetic disease ISO RGD:1315027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800725 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8800725 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8800725 Cct7 chaperonin containing TCP1 subunit 7 gene DOID:9000918 Disease Progression ISO RGD:1315027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050469 Costello syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Costello syndrome PMID:28492532 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050700 cardiomyopathy ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24033266|PMID:24728327|PMID:25741868|PMID:26260725|PMID:26530882|PMID:26580448|PMID:26848617|PMID:28492532 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:735645 D RGD:9068941 20200609 RGD PMID:24500602|REF_RGD_ID:11567230 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0050894 ameloblastoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:17603483|PMID:18186519|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:20619739|PMID:21129611|PMID:21483012|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23352452|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29595366 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:11313766|PMID:11727201|PMID:12068308|PMID:12198537|PMID:12438234|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12673792|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14678966|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16007634|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16772349|PMID:16804887|PMID:16825433|PMID:17366577|PMID:17374713|PMID:17437909|PMID:17483702|PMID:17488796|PMID:17496923|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18398503|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19416762|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19735675|PMID:19953625|PMID:20008640|PMID:20141835|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20301601|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20523244|PMID:20619739|PMID:20630094|PMID:20735442|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21063443|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22190897|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22698809|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22892241|PMID:22907230|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23644139|PMID:23680146|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23763990|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23875798|PMID:23907581|PMID:23918947|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24283439|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24800029|PMID:24803665|PMID:24918823|PMID:24920063|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25348715|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26678033|PMID:26732095|PMID:26795593|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27404270|PMID:27478040|PMID:27480103|PMID:27521173|PMID:28404629|PMID:28492532|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28832562|PMID:28854169|PMID:28891408|PMID:28911804|PMID:28947956|PMID:28991257|PMID:29084544|PMID:29453417|PMID:29493581|PMID:29522538|PMID:29533785|PMID:29752777|PMID:29907801|PMID:29925953|PMID:30094826|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30820351|PMID:30986545|PMID:31263281|PMID:31474318|PMID:31560489|PMID:31779674|PMID:31785789|PMID:31891627|PMID:32005694|PMID:32368696|PMID:32810930|PMID:32978145|PMID:33027564|PMID:33040082|PMID:33128510|PMID:33318624|PMID:33522658|PMID:33644862|PMID:33683002|PMID:34476331|PMID:34573299|PMID:35524774|PMID:4386970|PMID:5771505|PMID:8042262 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060578 Noonan syndrome 1 ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11313766|PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16804887|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19537845|PMID:20186801|PMID:20224900|PMID:20350999|PMID:20395089|PMID:20523244|PMID:21063443|PMID:21129611|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22892241|PMID:22907230|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:24803665|PMID:2500657|PMID:25035421|PMID:25157968|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26619011|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28687512|PMID:28911804|PMID:28991257|PMID:29522538|PMID:29907801|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30986545|PMID:31560489|PMID:32368696|PMID:32978145|PMID:33027564|PMID:33040082|PMID:33522658|PMID:33644862|PMID:34573299|PMID:35524774 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060585 Noonan syndrome 7 ISO RGD:735645 D RGD:7240710 20180130 OMIM 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060585 Noonan syndrome 7 ISO RGD:735645 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Noonan syndrome 7 PMID:11313766|PMID:12068308|PMID:12460918|PMID:12460919|PMID:12810628|PMID:12960123|PMID:14749708|PMID:15035987|PMID:15578519|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16619251|PMID:17344846|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19537845|PMID:20186801|PMID:20224900|PMID:20301557|PMID:20350999|PMID:20395089|PMID:20523244|PMID:21062266|PMID:21129611|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25157968|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26260725|PMID:26361991|PMID:26472072|PMID:26530882|PMID:26580448|PMID:26619011|PMID:26633545|PMID:26848617|PMID:27146152|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28911804|PMID:28991257|PMID:29522538|PMID:29540830|PMID:29907801|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30986545|PMID:31336229|PMID:31560489|PMID:32368696|PMID:32978145|PMID:33040082|PMID:33522658|PMID:33644862|PMID:34573299 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0080550 Noonan syndrome with multiple lentigines 3 ISO RGD:735645 D RGD:7240710 20180130 OMIM 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0080550 Noonan syndrome with multiple lentigines 3 ISO RGD:735645 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 3 PMID:11313766|PMID:12068308|PMID:12810628|PMID:12960123|PMID:14749708|PMID:15578519|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16619251|PMID:17344846|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18854871|PMID:19206169|PMID:19376813|PMID:19416762|PMID:20224900|PMID:20301557|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:22698809|PMID:22907230|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26260725|PMID:26361991|PMID:26472072|PMID:26530882|PMID:26580448|PMID:26633545|PMID:26848617|PMID:27146152|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28991257|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30986545|PMID:31560489|PMID:32368696|PMID:33040082|PMID:33644862 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:735645 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11313766|PMID:11727201|PMID:12068308|PMID:12198537|PMID:12414817|PMID:12438234|PMID:12460918|PMID:12460919|PMID:12673792|PMID:12692057|PMID:12960123|PMID:14612909|PMID:14678966|PMID:14679157|PMID:14688025|PMID:14749708|PMID:15035987|PMID:15578519|PMID:16007634|PMID:16199547|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16611712|PMID:16619251|PMID:16804887|PMID:16825433|PMID:17088437|PMID:17314276|PMID:17344846|PMID:17366577|PMID:17437909|PMID:17483702|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17576681|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19537845|PMID:19593635|PMID:19735675|PMID:19953625|PMID:20141835|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20301601|PMID:20350999|PMID:20395089|PMID:20523244|PMID:20619739|PMID:20735442|PMID:20818844|PMID:20859831|PMID:2102266|PMID:21062266|PMID:21063443|PMID:21129611|PMID:21135229|PMID:21204800|PMID:21483012|PMID:21639808|PMID:21784453|PMID:21871821|PMID:22048237|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22356324|PMID:22495831|PMID:22538770|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22675565|PMID:22698809|PMID:22735384|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22892241|PMID:22907230|PMID:22972589|PMID:23020132|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23321623|PMID:23352452|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23756559|PMID:23763990|PMID:23833300|PMID:23875798|PMID:23907581|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24066114|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24918823|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25180280|PMID:25337068|PMID:25348715|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26260725|PMID:26361991|PMID:26472072|PMID:26530882|PMID:26580448|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26732095|PMID:26795593|PMID:26848617|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27391121|PMID:27478040|PMID:27521173|PMID:27799065|PMID:28027327|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28832562|PMID:28911804|PMID:28947956|PMID:28991257|PMID:29084544|PMID:29453417|PMID:29493581|PMID:29522538|PMID:29533785|PMID:29540830|PMID:29595366|PMID:29752777|PMID:29907801|PMID:29945942|PMID:30094826|PMID:30181556|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30820351|PMID:30986545|PMID:31015455|PMID:31158244|PMID:31263281|PMID:31336229|PMID:31475041|PMID:31560489|PMID:31785789|PMID:32005694|PMID:32368696|PMID:3265306|PMID:32810930|PMID:32978145|PMID:33027564|PMID:33040082|PMID:33128510|PMID:33318624|PMID:33522658|PMID:33644862|PMID:33683002|PMID:34495297|PMID:34573299|PMID:35078985|PMID:35524774|PMID:8042262|PMID:9536098 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:24033266|PMID:24446311|PMID:25157968|PMID:26619011 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:735645 D RGD:7240710 20191106 OMIM 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:11313766|PMID:11727201|PMID:12068308|PMID:12673792|PMID:15035987|PMID:16007634|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17314276|PMID:17366577|PMID:17437909|PMID:17483702|PMID:17496923|PMID:17551924|PMID:17555829|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18451217|PMID:18456719|PMID:18470943|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19206169|PMID:19376813|PMID:19416762|PMID:19537845|PMID:19593635|PMID:20186801|PMID:20224900|PMID:20301365|PMID:20301557|PMID:20301601|PMID:20350999|PMID:20395089|PMID:20523244|PMID:20859831|PMID:2102266|PMID:21063443|PMID:21129611|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22495831|PMID:22538770|PMID:22698809|PMID:22876591|PMID:22907230|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23875798|PMID:23907581|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24283439|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24800029|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25337068|PMID:25463315|PMID:25533962|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27391121|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28832562|PMID:28911804|PMID:28947956|PMID:28991257|PMID:29084544|PMID:29453417|PMID:29522538|PMID:29533785|PMID:29540830|PMID:29907801|PMID:30094826|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31263281|PMID:31474318|PMID:31560489|PMID:32368696|PMID:3265306|PMID:33027564|PMID:33040082|PMID:33644862|PMID:33683002|PMID:34113008|PMID:34573299|PMID:35524774|PMID:4386970|PMID:5771505 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:10041 dysplastic nevus syndrome ISO RGD:735645 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: B-K MOLE SYNDROME PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12068308|PMID:12198537|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:16187918|PMID:17096326|PMID:17119447|PMID:17311103|PMID:18368129|PMID:18794803|PMID:19206169|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21129611|PMID:21639808|PMID:22048237|PMID:22310681|PMID:22495831|PMID:22663011|PMID:22972589|PMID:23352452|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562|PMID:29453417|PMID:29595366 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:735645 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1089 tethered spinal cord syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Occult spinal dysraphism sequence PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:12704 ataxia telangiectasia ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:16439621|PMID:16474404|PMID:18039235|PMID:18413255|PMID:18953432|PMID:19206169|PMID:22495831|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25348715|PMID:25741868|PMID:26732095|PMID:27276561|PMID:28492532|PMID:28524057|PMID:28947956|PMID:31475041 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:12716 newborn respiratory distress syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:735645 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1324 lung cancer ISO RGD:735645 D RGD:7240710 20240124 OMIM 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1324 lung cancer ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:735645 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:17704260|PMID:18042262|PMID:19206169|PMID:19416762|PMID:20301557|PMID:22190897|PMID:23763990|PMID:23950000|PMID:24033266|PMID:24920063|PMID:25741868|PMID:28404629|PMID:28492532|PMID:30820351 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16772349|PMID:17314276|PMID:17374713|PMID:17488796|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19593635|PMID:20008640|PMID:20130576|PMID:20186801|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:2102266|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22538770|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23907581|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24458522|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24926260|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29084544|PMID:29493581|PMID:29752777|PMID:29925953|PMID:30732632|PMID:31779674|PMID:31891627|PMID:32810930|PMID:32978145|PMID:33040082|PMID:33318624|PMID:33522658|PMID:34476331|PMID:8042262 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1475 lymphangioma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lymphangioma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12692057|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18060073|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1520 colon carcinoma treatment ISO RGD:735645 D RGD:9068941 20200609 RGD PMID:22319199|REF_RGD_ID:11567267 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:162 cancer ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cancer PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1657 ventricular septal defect ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:169 neuroendocrine tumor ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17341847 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:735645 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22871572|REF_RGD_ID:13461863 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:735646 D RGD:9068941 20200609 RGD PMID:22628411|REF_RGD_ID:13462040 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735646 D RGD:9068941 20200609 RGD PMID:18490924|REF_RGD_ID:13451537 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11727201|PMID:12068308|PMID:12198537|PMID:12438234|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12673792|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14678966|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15016963|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15753399|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17704260|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18794803|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19735675|PMID:19913317|PMID:20008640|PMID:20130576|PMID:20141835|PMID:20186801|PMID:20301365|PMID:20301601|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20735442|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21750866|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23248257|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23907581|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24458522|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24710085|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24918823|PMID:24920063|PMID:24926260|PMID:2493360|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25348715|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26582644|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:2872605|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29084544|PMID:29453417|PMID:29493581|PMID:29533785|PMID:29595366|PMID:29752777|PMID:29907801|PMID:29925953|PMID:30732632|PMID:30986545|PMID:31336229|PMID:31475041|PMID:31779674|PMID:31891627|PMID:32810930|PMID:32978145|PMID:33040082|PMID:33318624|PMID:33522658|PMID:33683002|PMID:34476331|PMID:8042262 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma onset ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:25623140|REF_RGD_ID:11567259 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma treatment ISO RGD:735645 D RGD:9068941 20200609 RGD PMID:22319199|REF_RGD_ID:11567267 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2154 nephroblastoma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Wilms tumor PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2526 prostate adenocarcinoma ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:14679157|PMID:15035987|PMID:16187918|PMID:16439621|PMID:16474404|PMID:17603483|PMID:18042262|PMID:18186519|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:21129611|PMID:21483012|PMID:21639808|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22048237|PMID:22310681|PMID:22495831|PMID:22649091|PMID:22663011|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:23273605|PMID:23715574|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24451042|PMID:24920063|PMID:2493360|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:28832562|PMID:29453417|PMID:29907801 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2571 Langerhans-cell histiocytosis ISO RGD:735646 D RGD:9068941 20220825 MouseDO OMIM:246400 | OMIM:604856 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2661 myoepithelioma ISO RGD:735645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:15016963|PMID:15753399|PMID:19404918|PMID:21750866|PMID:24033266|PMID:25157968 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2671 transitional cell carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:16439621|PMID:16474404|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17603483|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18413255|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21129611|PMID:21483012|PMID:21784453|PMID:22180495|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23273605|PMID:23352452|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29595366|PMID:29907801 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2679 dysembryoplastic neuroepithelial tumor ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:25346165|REF_RGD_ID:11567238 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2785 Dandy-Walker syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:2871 endometrial carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:28492532 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3069 malignant astrocytoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3069 malignant astrocytoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:rearrangement: : PMID:19794125|REF_RGD_ID:11069832 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3069 malignant astrocytoma onset ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:25346165|REF_RGD_ID:11567238 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3121 gallbladder cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gallbladder cancer 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3304 germinoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.V600E (human) PMID:19289622|REF_RGD_ID:2315865 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:11313766|PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16825433|PMID:16953233|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:20224900|PMID:20395089|PMID:20523244|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:28492532|PMID:28512244|PMID:28524057|PMID:28687512|PMID:28911804|PMID:28947956|PMID:29522538|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31560489|PMID:3265306|PMID:33040082 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner phenotype with normal karyotype PMID:11313766|PMID:12068308|PMID:12198537|PMID:12460918|PMID:12460919|PMID:12692057|PMID:12960123|PMID:15035987|PMID:16007634|PMID:16439621|PMID:16474404|PMID:16825433|PMID:16953233|PMID:17366577|PMID:17437909|PMID:17551924|PMID:17603482|PMID:17603483|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18060073|PMID:18186519|PMID:18413255|PMID:18456719|PMID:18794803|PMID:18854871|PMID:18953432|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19416762|PMID:19537845|PMID:19953625|PMID:20186801|PMID:20224900|PMID:20350999|PMID:20395089|PMID:20523244|PMID:20859831|PMID:21062266|PMID:21129611|PMID:21204800|PMID:21483012|PMID:21784453|PMID:21871821|PMID:22190897|PMID:22301711|PMID:22310681|PMID:22495831|PMID:22649091|PMID:22698809|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:23026937|PMID:23093928|PMID:23273605|PMID:23312806|PMID:23564332|PMID:23644139|PMID:23680146|PMID:23715574|PMID:23756559|PMID:23833300|PMID:23950000|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24524299|PMID:24719372|PMID:24728327|PMID:24775816|PMID:24803665|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25155755|PMID:25157968|PMID:25337068|PMID:25348715|PMID:25463315|PMID:25741868|PMID:25754625|PMID:26242988|PMID:26361991|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27329734|PMID:27478040|PMID:28404629|PMID:28492532|PMID:2851224|PMID:28512244|PMID:28524057|PMID:28650561|PMID:28687512|PMID:28783719|PMID:28832562|PMID:28911804|PMID:28947956|PMID:28991257|PMID:29453417|PMID:29522538|PMID:29540830|PMID:29907801|PMID:30290804|PMID:30414707|PMID:30581057|PMID:30732632|PMID:30986545|PMID:31560489|PMID:31785789|PMID:32005694|PMID:32368696|PMID:3265306|PMID:32978145|PMID:33040082|PMID:33128510|PMID:33522658|PMID:33644862 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:363 uterine cancer ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562|PMID:29453417 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562|PMID:29453417 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3840 craniopharyngioma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413733 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3905 lung carcinoma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11313766|PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16007634|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17437909|PMID:17488796|PMID:17704260|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19404918|PMID:19416762|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20186801|PMID:20224900|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21204800|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22190897|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22698809|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22907230|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23644139|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23950000|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24803665|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25754625|PMID:25950823|PMID:25989278|PMID:26361991|PMID:26619011|PMID:26678033|PMID:27329734|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:28991257|PMID:29522538|PMID:29925953|PMID:30290804|PMID:30414707|PMID:30581057|PMID:31560489|PMID:31779674|PMID:31891627|PMID:32368696|PMID:32978145|PMID:33040082|PMID:33522658|PMID:33644862|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:735645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12068308|PMID:12460918|PMID:12460919|PMID:12960123|PMID:14612909|PMID:15035987|PMID:16439621|PMID:16474404|PMID:17603483|PMID:18042262|PMID:18186519|PMID:18413255|PMID:18794803|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19537845|PMID:20350999|PMID:21062266|PMID:21129611|PMID:21483012|PMID:21784453|PMID:22310681|PMID:22649091|PMID:22773810|PMID:23273605|PMID:23833300|PMID:24033266|PMID:24303953|PMID:24446311|PMID:24920063|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26619011|PMID:27236105|PMID:27276561|PMID:28492532|PMID:29907801|PMID:31336229 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14681681|PMID:14688025|PMID:15001635|PMID:15016963|PMID:15035987|PMID:15046639|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15753399|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17314276|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19363522|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19593635|PMID:19794125|PMID:19913317|PMID:20008640|PMID:20186801|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:2102266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21190184|PMID:21204800|PMID:21343559|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21716161|PMID:21750866|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22535154|PMID:22536370|PMID:22538770|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22892241|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23093928|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23680146|PMID:23685455|PMID:23715574|PMID:23756559|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23907581|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25155755|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29925953|PMID:31779674|PMID:31891627|PMID:32978145|PMID:33522658|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22876591|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29453417|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3948 adrenocortical carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:12068308|PMID:14612909|PMID:14679157|PMID:14688025|PMID:17096326|PMID:17119447|PMID:17311103|PMID:18368129|PMID:18794803|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21129611|PMID:22310681|PMID:23352452|PMID:24033266|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29595366 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: NONMEDULLARY THYROID CARCINOMA, PAPILLARY PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:3969 thyroid gland papillary carcinoma onset ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:22702340|REF_RGD_ID:7241798 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22876591|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4852 pleomorphic xanthoastrocytoma onset ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:25346165|REF_RGD_ID:11567238 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:619908 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:24139215|REF_RGD_ID:14398746 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:24139215|REF_RGD_ID:14398746 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:735646 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:24139215|REF_RGD_ID:14398746 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4947 cholangiocarcinoma ISO RGD:619908 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:12692057|REF_RGD_ID:11073239 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4947 cholangiocarcinoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:12692057|REF_RGD_ID:11073239 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:4947 cholangiocarcinoma ISO RGD:735646 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:12692057|REF_RGD_ID:11073239 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:5078 ganglioglioma ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood ganglioglioma PMID:19363522|PMID:19794125|PMID:21190184|PMID:21343559|PMID:21716161|PMID:22535154|PMID:24033266 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:5381 bile duct adenoma ISO RGD:619908 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:25704541|REF_RGD_ID:11521169 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:5381 bile duct adenoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:25704541|REF_RGD_ID:11521169 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:5381 bile duct adenoma ISO RGD:735646 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V600E (human) PMID:25704541|REF_RGD_ID:11521169 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29925953|PMID:31336229|PMID:31775759|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:5742 pancreatic acinar cell adenocarcinoma ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:missense mutation, gene fusions:multiple (human) PMID:25266736|REF_RGD_ID:13462041 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735645 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:24033266|PMID:24446311|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:735645 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15035987|PMID:16372351|PMID:16439621|PMID:16474404|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17366577|PMID:17551924|PMID:17555829|PMID:17603482|PMID:17703371|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:18854871|PMID:18953432|PMID:19206169|PMID:19376813|PMID:20186801|PMID:20859831|PMID:21063443|PMID:21784453|PMID:22301711|PMID:22495831|PMID:22876591|PMID:23093928|PMID:23312806|PMID:23564332|PMID:23875798|PMID:23975261|PMID:24033266|PMID:24037001|PMID:24088041|PMID:24283439|PMID:24409384|PMID:24446311|PMID:24524299|PMID:24719372|PMID:24775816|PMID:24920063|PMID:2500657|PMID:25035421|PMID:25337068|PMID:25463315|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26732095|PMID:26795593|PMID:27146152|PMID:27276561|PMID:27322245|PMID:27391121|PMID:27478040|PMID:28492532|PMID:28524057|PMID:28687512|PMID:28783719|PMID:28947956|PMID:29540830|PMID:30986545|PMID:31474318|PMID:3265306|PMID:33027564|PMID:34573299|PMID:35524774|PMID:4386970|PMID:5771505 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:6420 pulmonary valve stenosis ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:6536 plasma cell neoplasm ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27222248 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:6846 familial melanoma ISO RGD:735645 D RGD:7240710 20240221 OMIM 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:6846 familial melanoma ISO RGD:735645 D RGD:8554872 20240220 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 PMID:16439621|PMID:16474404|PMID:17366577|PMID:17551924|PMID:17703371|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19206169|PMID:19376813|PMID:20395089|PMID:21784453|PMID:21871821|PMID:22301711|PMID:22495831|PMID:23312806|PMID:23564332|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24409384|PMID:24524299|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25035421|PMID:25741868|PMID:26242988|PMID:26472072|PMID:26633545|PMID:27146152|PMID:27322245|PMID:27478040|PMID:28404629|PMID:28492532|PMID:28687512|PMID:30986545 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:8541 Sezary's disease ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:24033266|PMID:24446311|PMID:25157968|PMID:26619011 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18794803|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24920063|PMID:2493360|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:30986545|PMID:31277584|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17603483|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18794803|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24409384|PMID:24446311|PMID:24451042|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:24920063|PMID:2493360|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27236105|PMID:27276561|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28832562|PMID:28854169|PMID:28891408|PMID:29453417|PMID:29595366|PMID:29907801|PMID:29925953|PMID:30986545|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000027 Microsatellite Instability ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29426936 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000625 Nonseminomatous Germ Cell Tumor ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Germ cell tumor, nonseminomatous PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9000965 Neoplasm Metastasis onset ISO RGD:735645 D RGD:9068941 20200609 RGD associated with Melanoma; DNA:mutations: : PMID:25623140|REF_RGD_ID:11567259 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002170 Experimental Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12068308|PMID:12198537|PMID:12692057|PMID:12960123|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15035987|PMID:16187918|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17704260|PMID:18039235|PMID:18060073|PMID:18368129|PMID:18413255|PMID:18794803|PMID:19206169|PMID:19376813|PMID:19383316|PMID:19537845|PMID:19913317|PMID:20350999|PMID:20619739|PMID:21062266|PMID:21129611|PMID:21639808|PMID:22048237|PMID:22310681|PMID:22495831|PMID:22663011|PMID:22972589|PMID:23352452|PMID:23680146|PMID:24033266|PMID:24451042|PMID:25155755|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:28832562|PMID:29453417|PMID:29595366 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25735316|PMID:29610475 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:14681681|PMID:15001635|PMID:15035987|PMID:15046639|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002883 Aortic Aneurysm, Giant Congenital ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, giant congenital PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colonic Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002969 Nevus ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.V600E(human) PMID:25490715|REF_RGD_ID:11567234 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9002969 Nevus no_association ISO RGD:735645 D RGD:9068941 20200609 RGD DNA:mutation: :T1796A(human) PMID:14984580|REF_RGD_ID:11567261 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003191 Vascular Malformations ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Vascular malformation PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003507 Premature Birth ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature birth PMID:16439621|PMID:16474404|PMID:17366577|PMID:17483702|PMID:17704260|PMID:18413255|PMID:19206169|PMID:20186801|PMID:24033266|PMID:25463315|PMID:25741868|PMID:28492532 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003571 Paraproteinemias ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9003806 PHACE Association ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PHACES association PMID:16372351|PMID:16523510|PMID:16804887|PMID:16825433|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19206169|PMID:23875798|PMID:24033266|PMID:24283439|PMID:25741868|PMID:31474318|PMID:4386970|PMID:5771505 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004118 Experimental Melanoma ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997|PMID:29438700 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004547 Thyroid Neoplasms ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:19206169|PMID:21639808|PMID:22048237|PMID:22495831|PMID:22663011|PMID:22972589|PMID:24033266|PMID:24451042|PMID:25157968|PMID:26619011|PMID:28492532|PMID:28832562|PMID:29453417 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9004547 Thyroid Neoplasms treatment ISO RGD:735645 D RGD:9068941 20200609 RGD PMID:21355020|REF_RGD_ID:11567260 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:735645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:11727201|PMID:12068308|PMID:12460918|PMID:12460919|PMID:12673792|PMID:14679157|PMID:15035987|PMID:16439621|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17704260|PMID:18039235|PMID:18042262|PMID:18368129|PMID:18413255|PMID:19010912|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19913317|PMID:20186801|PMID:20301365|PMID:20301601|PMID:21483012|PMID:21871821|PMID:22495831|PMID:22649091|PMID:23093928|PMID:23833300|PMID:23907581|PMID:24033266|PMID:24918823|PMID:25157968|PMID:25463315|PMID:25741868|PMID:26582644|PMID:26619011|PMID:28492532|PMID:29084544|PMID:29533785|PMID:33683002 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9005172 Lung Neoplasms ISO RGD:735645 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9005446 Mandibular Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859340 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12068308|PMID:12198537|PMID:12960123|PMID:14679157|PMID:15035987|PMID:16187918|PMID:21639808|PMID:22048237|PMID:22663011|PMID:22972589|PMID:24033266|PMID:25157968|PMID:26619011 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis ISO RGD:619908 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutations:cds: PMID:28787433|REF_RGD_ID:14696791 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis ISO RGD:735645 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutations:cds: PMID:28787433|REF_RGD_ID:14696791 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis ISO RGD:735646 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutations:cds: PMID:28787433|REF_RGD_ID:14696791 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:619908 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human) PMID:23010994|REF_RGD_ID:15039394 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:619908 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human) PMID:22331825|REF_RGD_ID:18337265 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:619908 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutation:cds: PMID:27737491|REF_RGD_ID:18337264 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:619908 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:multiple PMID:26775732|REF_RGD_ID:11554843 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735645 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human) PMID:23010994|REF_RGD_ID:15039394 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735645 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human) PMID:22331825|REF_RGD_ID:18337265 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735645 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutation:cds: PMID:27737491|REF_RGD_ID:18337264 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735645 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:multiple PMID:26775732|REF_RGD_ID:11554843 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735646 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human) PMID:23010994|REF_RGD_ID:15039394 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735646 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human) PMID:22331825|REF_RGD_ID:18337265 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735646 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutation:cds: PMID:27737491|REF_RGD_ID:18337264 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9006618 Liver Metastasis severity ISO RGD:735646 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:multiple PMID:26775732|REF_RGD_ID:11554843 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9007188 Liver Neoplasms ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17514646 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9007502 Brain Neoplasms ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18368129|PMID:18398503|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9007702 Carcinogenesis ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24717435 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008086 Developmental Disabilities ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:12068308|PMID:12198537|PMID:12438234|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14678966|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19735675|PMID:19913317|PMID:20008640|PMID:20141835|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:735645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:12068308|PMID:15035987|PMID:17314276|PMID:18039235|PMID:18413255|PMID:19376813|PMID:19593635|PMID:2102266|PMID:22538770|PMID:23680146|PMID:23907581|PMID:24033266|PMID:25155755|PMID:25157968|PMID:25741868|PMID:28492532 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:7240710 20210303 OMIM 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18398503|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27480103|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16772349|PMID:17374713|PMID:17488796|PMID:17785355|PMID:18039235|PMID:18398503|PMID:18413255|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19238210|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29925953|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24409384|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28854169|PMID:28891408|PMID:29925953|PMID:30986545|PMID:31277584|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14679157|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:17366577|PMID:17374713|PMID:17488796|PMID:17551924|PMID:17703371|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18398503|PMID:18413255|PMID:18456719|PMID:18854871|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:20008640|PMID:20350999|PMID:20395089|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22301711|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22495831|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23302800|PMID:23312806|PMID:23325582|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23564332|PMID:23614898|PMID:23685455|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:23975261|PMID:24033266|PMID:24088041|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24388723|PMID:24409384|PMID:24508103|PMID:24512911|PMID:24524299|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24719372|PMID:24775816|PMID:2500657|PMID:25024077|PMID:25035421|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26242988|PMID:26472072|PMID:26619011|PMID:26633545|PMID:26678033|PMID:27146152|PMID:27322245|PMID:27404270|PMID:27478040|PMID:27480103|PMID:28404629|PMID:28492532|PMID:28687512|PMID:28854169|PMID:28891408|PMID:29925953|PMID:30986545|PMID:31779674|PMID:31891627|PMID:34476331 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8800749 Braf B-Raf proto-oncogene, serine/threonine kinase gene DOID:9538 multiple myeloma ISO RGD:735645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:12068308|PMID:12198537|PMID:12447372|PMID:12460918|PMID:12460919|PMID:12619120|PMID:12644542|PMID:12670889|PMID:12794760|PMID:12960123|PMID:14513361|PMID:14602780|PMID:14612909|PMID:14679157|PMID:14688025|PMID:15001635|PMID:15035987|PMID:15126572|PMID:15181070|PMID:15342696|PMID:15356022|PMID:15386408|PMID:15687339|PMID:15998781|PMID:16015629|PMID:16174717|PMID:16187918|PMID:16439621|PMID:16474404|PMID:16772349|PMID:16825433|PMID:17096326|PMID:17119447|PMID:17311103|PMID:17374713|PMID:17488796|PMID:17603483|PMID:17785355|PMID:18039235|PMID:18042262|PMID:18186519|PMID:18368129|PMID:18398503|PMID:18413255|PMID:18794803|PMID:19001320|PMID:19010912|PMID:19018267|PMID:19206169|PMID:19238210|PMID:19376813|PMID:19383316|PMID:19404918|PMID:19537845|PMID:19561230|PMID:19571295|PMID:19913317|PMID:20008640|PMID:20350999|PMID:20413299|PMID:20619739|PMID:20630094|PMID:20818844|PMID:20823850|PMID:20857202|PMID:21062266|PMID:21107320|PMID:21107323|PMID:21129611|PMID:21156289|PMID:21163703|PMID:21426297|PMID:21483012|PMID:21502544|PMID:21639808|PMID:21641636|PMID:21683865|PMID:21784453|PMID:21975775|PMID:22038996|PMID:22039425|PMID:22048237|PMID:22113612|PMID:22180495|PMID:22281684|PMID:22310681|PMID:22351686|PMID:22356324|PMID:22389471|PMID:22448344|PMID:22536370|PMID:22586120|PMID:22608338|PMID:22649091|PMID:22663011|PMID:22735384|PMID:22743296|PMID:22773810|PMID:22798288|PMID:22805292|PMID:22972589|PMID:22997239|PMID:23020132|PMID:23031422|PMID:23251002|PMID:23273605|PMID:23302800|PMID:23325582|PMID:23352452|PMID:23470635|PMID:23524406|PMID:23549875|PMID:23614898|PMID:23685455|PMID:23715574|PMID:23812671|PMID:23833300|PMID:23845441|PMID:23918947|PMID:24033266|PMID:24107445|PMID:24112392|PMID:24163374|PMID:24303953|PMID:24388723|PMID:24446311|PMID:24508103|PMID:24512911|PMID:24576830|PMID:24583796|PMID:24586605|PMID:24594804|PMID:24670642|PMID:24717435|PMID:24920063|PMID:2493360|PMID:25024077|PMID:25037139|PMID:25079330|PMID:25157968|PMID:25265492|PMID:25265494|PMID:25370471|PMID:25399551|PMID:25463315|PMID:25741868|PMID:25950823|PMID:25989278|PMID:26619011|PMID:26678033|PMID:27236105|PMID:27276561|PMID:27404270|PMID:27480103|PMID:28492532|PMID:28854169|PMID:28891408|PMID:29595366|PMID:29907801|PMID:29925953|PMID:31336229|PMID:31779674|PMID:31891627|PMID:34476331 8800805 Oasl 2'-5'-oligoadenylate synthetase like gene DOID:630 genetic disease ISO RGD:1318443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800805 Oasl 2'-5'-oligoadenylate synthetase like gene DOID:9001488 Human Influenza ISO RGD:1318443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8800829 Hemgn hemogen gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8800829 Hemgn hemogen gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8800829 Hemgn hemogen gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8800829 Hemgn hemogen gene DOID:1059 intellectual disability ISO RGD:1351335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8800829 Hemgn hemogen gene DOID:12712 nephronophthisis ISO RGD:1351335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8800829 Hemgn hemogen gene DOID:14004 thoracic aortic aneurysm ISO RGD:1351335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8800829 Hemgn hemogen gene DOID:630 genetic disease ISO RGD:1351335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800829 Hemgn hemogen gene DOID:9001793 Generalized Epilepsy ISO RGD:1351335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8800844 Gps2 G protein pathway suppressor 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8800844 Gps2 G protein pathway suppressor 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317604 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8800844 Gps2 G protein pathway suppressor 2 gene DOID:1059 intellectual disability ISO RGD:1317604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8800844 Gps2 G protein pathway suppressor 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1317604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8800844 Gps2 G protein pathway suppressor 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1317604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8800844 Gps2 G protein pathway suppressor 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8800844 Gps2 G protein pathway suppressor 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1317604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8800844 Gps2 G protein pathway suppressor 2 gene DOID:630 genetic disease ISO RGD:1317604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800868 Col24a1 collagen type XXIV alpha 1 chain gene DOID:10283 prostate cancer ISO RGD:1349074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8800868 Col24a1 collagen type XXIV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1349074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19204719|PMID:9724608 8800933 Ckap2l cytoskeleton associated protein 2 like gene DOID:0112194 Filippi syndrome ISO RGD:1602064 D RGD:7240710 20180130 OMIM 8800933 Ckap2l cytoskeleton associated protein 2 like gene DOID:0112194 Filippi syndrome ISO RGD:1602064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Filippi syndrome PMID:15365457|PMID:18553552|PMID:25439729|PMID:25741868|PMID:28492532|PMID:8867657 8800933 Ckap2l cytoskeleton associated protein 2 like gene DOID:1924 hypogonadism ISO RGD:1602064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism 8800933 Ckap2l cytoskeleton associated protein 2 like gene DOID:630 genetic disease ISO RGD:1602064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8800933 Ckap2l cytoskeleton associated protein 2 like gene DOID:684 hepatocellular carcinoma ISO RGD:1602064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8800944 Ntsr1 neurotensin receptor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8800944 Ntsr1 neurotensin receptor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 8800944 Ntsr1 neurotensin receptor 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1314483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8800944 Ntsr1 neurotensin receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1314483 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8800944 Ntsr1 neurotensin receptor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8800944 Ntsr1 neurotensin receptor 1 gene DOID:14330 Parkinson's disease ISO RGD:1314483 D RGD:9068941 20200609 RGD PMID:7700529|REF_RGD_ID:9743906 8800944 Ntsr1 neurotensin receptor 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8800944 Ntsr1 neurotensin receptor 1 gene DOID:1826 epilepsy ISO RGD:1314483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 8800944 Ntsr1 neurotensin receptor 1 gene DOID:5419 schizophrenia ISO RGD:1314483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20659557 8800944 Ntsr1 neurotensin receptor 1 gene DOID:5419 schizophrenia ISO RGD:1314483 D RGD:9068941 20200806 RGD DNA:repeat:enhancer: 8800944 Ntsr1 neurotensin receptor 1 gene DOID:630 genetic disease ISO RGD:1314483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800944 Ntsr1 neurotensin receptor 1 gene DOID:9000641 Pain ISO RGD:1314483 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20727387 8800944 Ntsr1 neurotensin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:1306076 D RGD:9068941 20200609 RGD PMID:22396077|REF_RGD_ID:9743902 8800952 Gatb glutamyl-tRNA amidotransferase subunit B gene DOID:0112119 combined oxidative phosphorylation deficiency 41 ISO RGD:1317305 D RGD:7240710 20200520 OMIM 8800952 Gatb glutamyl-tRNA amidotransferase subunit B gene DOID:0112119 combined oxidative phosphorylation deficiency 41 ISO RGD:1317305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 41 PMID:25741868|PMID:30283131 8800952 Gatb glutamyl-tRNA amidotransferase subunit B gene DOID:630 genetic disease ISO RGD:1317305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800952 Gatb glutamyl-tRNA amidotransferase subunit B gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1317305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial PMID:30283131 8800969 Urm1 ubiquitin related modifier 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8800969 Urm1 ubiquitin related modifier 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8800969 Urm1 ubiquitin related modifier 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315307 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8800969 Urm1 ubiquitin related modifier 1 gene DOID:630 genetic disease ISO RGD:1315307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800969 Urm1 ubiquitin related modifier 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8800969 Urm1 ubiquitin related modifier 1 gene DOID:9000918 Disease Progression ISO RGD:1315307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8800982 Rxfp3 relaxin family peptide receptor 3 gene DOID:630 genetic disease ISO RGD:1352408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800982 Rxfp3 relaxin family peptide receptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8800992 Lbx1 ladybird homeobox 1 gene DOID:0090020 split hand-foot malformation ISO RGD:1606568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:21681106 8800992 Lbx1 ladybird homeobox 1 gene DOID:630 genetic disease ISO RGD:1606568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8800992 Lbx1 ladybird homeobox 1 gene DOID:9002001 Congenital Central Hypoventilation Syndrome 3 ISO RGD:1606568 D RGD:7240710 20211006 OMIM 8800992 Lbx1 ladybird homeobox 1 gene DOID:9002001 Congenital Central Hypoventilation Syndrome 3 ISO RGD:1606568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3 PMID:30487221 8800992 Lbx1 ladybird homeobox 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19651985 8801000 Gbx1 gastrulation brain homeobox 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1352199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8801000 Gbx1 gastrulation brain homeobox 1 gene DOID:2843 long QT syndrome ISO RGD:1352199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8801000 Gbx1 gastrulation brain homeobox 1 gene DOID:630 genetic disease ISO RGD:1352199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801006 Mtmr1 myotubularin related protein 1 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1315259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 8801006 Mtmr1 myotubularin related protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1315259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8801006 Mtmr1 myotubularin related protein 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1315259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 8801006 Mtmr1 myotubularin related protein 1 gene DOID:12849 autistic disorder ISO RGD:1315259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8801006 Mtmr1 myotubularin related protein 1 gene DOID:630 genetic disease ISO RGD:1315259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801040 Fanci FA complementation group I gene DOID:0050671 female breast cancer susceptibility ISO RGD:1605380 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 8801040 Fanci FA complementation group I gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1605380 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 8801040 Fanci FA complementation group I gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1605380 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:21880868|PMID:22189570|PMID:23524600|PMID:23783014|PMID:24033266|PMID:24086434|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532|PMID:30634555|PMID:31655921|PMID:33486010|PMID:35478072 8801040 Fanci FA complementation group I gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:1605380 D RGD:7240710 20180130 OMIM 8801040 Fanci FA complementation group I gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:1605380 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group I PMID:16199547|PMID:17412408|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:18414213|PMID:18931676|PMID:20971953|PMID:21324748|PMID:22720145|PMID:22778927|PMID:23093618|PMID:23524600|PMID:23613520|PMID:24989076|PMID:25741868|PMID:25877891|PMID:26296701|PMID:26467025|PMID:26590883|PMID:27987238|PMID:28492532|PMID:28678401|PMID:28875981|PMID:28878254|PMID:29439820|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:30792206|PMID:31300551|PMID:32054657|PMID:32546565|PMID:33558524|PMID:34861889|PMID:36356413|PMID:36513378|PMID:9536098 8801040 Fanci FA complementation group I gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8801040 Fanci FA complementation group I gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:0111991 immunodeficiency 62 ISO RGD:1605380 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Immunodeficiency 62 PMID:25741868|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:10534 stomach cancer ISO RGD:1605380 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:17452773|PMID:17460694|PMID:25741868|PMID:28492532|PMID:28875981 8801040 Fanci FA complementation group I gene DOID:10907 microcephaly ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:13636 Fanconi anemia ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34861889|PMID:9536098 8801040 Fanci FA complementation group I gene DOID:13636 Fanconi anemia ISO RGD:1605380 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:29625052|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34601666|PMID:34861889|PMID:36356413|PMID:36513378|PMID:9536098 8801040 Fanci FA complementation group I gene DOID:1612 breast cancer ISO RGD:1605380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:33558524 8801040 Fanci FA complementation group I gene DOID:1826 epilepsy ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605380 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:21880868|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532|PMID:35478072 8801040 Fanci FA complementation group I gene DOID:2717 Bloom syndrome ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8801040 Fanci FA complementation group I gene DOID:630 genetic disease ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:684 hepatocellular carcinoma ISO RGD:1605380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8801040 Fanci FA complementation group I gene DOID:700 mitochondrial metabolism disease ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: mitochondrial disorder PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:700 mitochondrial metabolism disease ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: mitochondrial disorder PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:9003108 CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ISO RGD:1605380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1605380 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28492532 8801040 Fanci FA complementation group I gene DOID:9256 colorectal cancer ISO RGD:1605380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:25741868|PMID:28492532 8801086 Mrpl2 mitochondrial ribosomal protein L2 gene DOID:0050444 infantile Refsum disease ISO RGD:1316168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8801086 Mrpl2 mitochondrial ribosomal protein L2 gene DOID:630 genetic disease ISO RGD:1316168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801086 Mrpl2 mitochondrial ribosomal protein L2 gene DOID:905 Zellweger syndrome ISO RGD:1316168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:11382 corneal neovascularization treatment ISO RGD:1345645 D RGD:9068941 20200609 RGD PMID:20837529|REF_RGD_ID:7777186 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404|PMID:17374397 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:3310 atopic dermatitis ISO RGD:1345645 D RGD:9068941 20200609 RGD mRNA:altered expression:fibroblast PMID:16650051|REF_RGD_ID:7777183 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:3525 middle cerebral artery infarction ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:37 skin disease ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:4251 conjunctival disease ISO RGD:1345645 D RGD:9068941 20200609 RGD PMID:22297496|REF_RGD_ID:7777184 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:630 genetic disease ISO RGD:1345645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:9001488 Human Influenza ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:621359 D RGD:9068941 20200609 RGD PMID:22912904|REF_RGD_ID:7777188 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:9004610 Acute Lung Injury ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26313688 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:9005372 Inflammation treatment ISO RGD:1345645 D RGD:9068941 20200609 RGD associated with Corneal Diseases PMID:21837654|REF_RGD_ID:7777185 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:9007964 Arsenic Poisoning ISO RGD:1345645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8801097 Tnfaip6 TNF alpha induced protein 6 gene DOID:9008606 Corneal Opacity treatment ISO RGD:1345645 D RGD:9068941 20200609 RGD PMID:20837529|REF_RGD_ID:7777186 8801106 Map3k2 mitogen-activated protein kinase kinase kinase 2 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1354206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 8801106 Map3k2 mitogen-activated protein kinase kinase kinase 2 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1354206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 8801106 Map3k2 mitogen-activated protein kinase kinase kinase 2 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1354206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8801106 Map3k2 mitogen-activated protein kinase kinase kinase 2 gene DOID:630 genetic disease ISO RGD:1354206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801126 Gpr119 G protein-coupled receptor 119 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8801126 Gpr119 G protein-coupled receptor 119 gene DOID:12849 autistic disorder ISO RGD:736973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8801126 Gpr119 G protein-coupled receptor 119 gene DOID:630 genetic disease ISO RGD:736973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801141 Sorcs2 sortilin related VPS10 domain containing receptor 2 gene DOID:630 genetic disease ISO RGD:1321631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801171 Clrn2 clarin 2 gene DOID:630 genetic disease ISO RGD:2291757 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8801171 Clrn2 clarin 2 gene DOID:9000321 Autosomal Recessive Nonsyndromic Deafness 117 ISO RGD:2291757 D RGD:7240710 20210303 OMIM 8801171 Clrn2 clarin 2 gene DOID:9000321 Autosomal Recessive Nonsyndromic Deafness 117 ISO RGD:2291757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 PMID:25741868|PMID:33496845 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1317236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:30372751|PMID:30718709|PMID:9536098 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1317236 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31816670|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:9536098 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:0110768 hereditary spastic paraplegia 15 ISO RGD:1317236 D RGD:7240710 20180130 OMIM 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:0110768 hereditary spastic paraplegia 15 ISO RGD:1317236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration PMID:11342696|PMID:16199547|PMID:17576681|PMID:17661097|PMID:18098276|PMID:18394578|PMID:19805727|PMID:19917823|PMID:23733235|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25497598|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26492578|PMID:26633545|PMID:27217339|PMID:27544497|PMID:28492532|PMID:28832565|PMID:29246610|PMID:29858556|PMID:30555096|PMID:31108397|PMID:6944241|PMID:9536098 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:10584 retinitis pigmentosa ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32141364|PMID:32790509|PMID:34001834 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:10584 retinitis pigmentosa ISO RGD:1317236 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:35006499|PMID:36909829 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:1059 intellectual disability ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18394578|PMID:19805727|PMID:25741868|PMID:27544497|PMID:28492532 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:1242 globe disease ISO RGD:1317236 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:14791 Leber congenital amaurosis ISO RGD:1317236 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:19011012|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29186038|PMID:30134391|PMID:30543658|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:34001834|PMID:35006499|PMID:35994252|PMID:36690427|PMID:36909829|PMID:9536098 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28832565|PMID:31108397|PMID:6944241|PMID:9536098 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317236 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:16199547|PMID:17576681|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28832565|PMID:29246610|PMID:29590070|PMID:31108397|PMID:6944241|PMID:9536098 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:4448 macular degeneration ISO RGD:1317236 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32790509|PMID:34001834|PMID:36909829 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:607 paraplegia ISO RGD:1317236 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11342696|PMID:16199547|PMID:17576681|PMID:17661097|PMID:18394578|PMID:18414213|PMID:19084844|PMID:19763152|PMID:19805727|PMID:19917823|PMID:20307669|PMID:21462267|PMID:22406018|PMID:24030950|PMID:24088041|PMID:24833714|PMID:25133958|PMID:25497598|PMID:25741868|PMID:26467025|PMID:26492578|PMID:26633545|PMID:26944241|PMID:27217339|PMID:27544497|PMID:28492532|PMID:28832565|PMID:29246610|PMID:29590070|PMID:29858556|PMID:30555096|PMID:31108397|PMID:31692161|PMID:37041082|PMID:6944241|PMID:9536098 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:630 genetic disease ISO RGD:1317236 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18394578|PMID:19805727|PMID:19917823|PMID:24030950|PMID:24833714|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:8501 fundus dystrophy ISO RGD:1317236 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:18779497|PMID:19011012|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:24265693|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29178642|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32141364|PMID:32790509|PMID:33090715|PMID:33576794|PMID:34001834|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:9536098 8801198 Zfyve26 zinc finger FYVE-type containing 26 gene DOID:9008296 Eye Abnormalities ISO RGD:1317236 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 8801249 Rpa2 replication protein A2 gene DOID:630 genetic disease ISO RGD:1344829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801262 Znf783 zinc finger protein 783 gene DOID:630 genetic disease ISO RGD:4140607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801279 Slamf9 SLAM family member 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8801279 Slamf9 SLAM family member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1314275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8801279 Slamf9 SLAM family member 9 gene DOID:630 genetic disease ISO RGD:1314275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801279 Slamf9 SLAM family member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8801279 Slamf9 SLAM family member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8801302 Rnf151 ring finger protein 151 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8801302 Rnf151 ring finger protein 151 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8801302 Rnf151 ring finger protein 151 gene DOID:1826 epilepsy ISO RGD:1319576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8801302 Rnf151 ring finger protein 151 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8801302 Rnf151 ring finger protein 151 gene DOID:630 genetic disease ISO RGD:1319576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801313 Il1rap interleukin 1 receptor accessory protein gene DOID:409 liver disease ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8801313 Il1rap interleukin 1 receptor accessory protein gene DOID:5419 schizophrenia ISO RGD:732294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8801313 Il1rap interleukin 1 receptor accessory protein gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 8801313 Il1rap interleukin 1 receptor accessory protein gene DOID:630 genetic disease ISO RGD:732294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801313 Il1rap interleukin 1 receptor accessory protein gene DOID:684 hepatocellular carcinoma ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8801313 Il1rap interleukin 1 receptor accessory protein gene DOID:9000918 Disease Progression ISO RGD:732294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27738319 8801313 Il1rap interleukin 1 receptor accessory protein gene DOID:9002189 High Myopia ISO RGD:732294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8801337 Asb1 ankyrin repeat and SOCS box containing 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1321850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8801337 Asb1 ankyrin repeat and SOCS box containing 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1321850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8801337 Asb1 ankyrin repeat and SOCS box containing 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1321850 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8801337 Asb1 ankyrin repeat and SOCS box containing 1 gene DOID:1059 intellectual disability ISO RGD:1321850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8801337 Asb1 ankyrin repeat and SOCS box containing 1 gene DOID:630 genetic disease ISO RGD:1321850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801337 Asb1 ankyrin repeat and SOCS box containing 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1321850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8801345 Ankrd44 ankyrin repeat domain 44 gene DOID:630 genetic disease ISO RGD:1605602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801345 Ankrd44 ankyrin repeat domain 44 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8801385 Slc17a7 solute carrier family 17 member 7 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8801385 Slc17a7 solute carrier family 17 member 7 gene DOID:11446 sciatic neuropathy ISO RGD:620101 D RGD:9068941 20200609 RGD protein:decreased expression:nucleus accumbens PMID:23835161|REF_RGD_ID:9999206 8801385 Slc17a7 solute carrier family 17 member 7 gene DOID:224 transient cerebral ischemia ISO RGD:620101 D RGD:9068941 20200609 RGD PMID:23458738|REF_RGD_ID:9999193 8801385 Slc17a7 solute carrier family 17 member 7 gene DOID:630 genetic disease ISO RGD:733841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801385 Slc17a7 solute carrier family 17 member 7 gene DOID:8927 learning disability ISO RGD:733841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 8801385 Slc17a7 solute carrier family 17 member 7 gene DOID:9008023 Memory Disorders ISO RGD:733841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 8801405 Prpf38b pre-mRNA processing factor 38B gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1605670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8801405 Prpf38b pre-mRNA processing factor 38B gene DOID:12849 autistic disorder ISO RGD:1605670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8801405 Prpf38b pre-mRNA processing factor 38B gene DOID:630 genetic disease ISO RGD:1605670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801405 Prpf38b pre-mRNA processing factor 38B gene DOID:9002189 High Myopia ISO RGD:1605670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8801468 Apoc3 apolipoprotein C3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8801468 Apoc3 apolipoprotein C3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8801468 Apoc3 apolipoprotein C3 gene DOID:0080162 lupus nephritis ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17957542|REF_RGD_ID:7207211 8801468 Apoc3 apolipoprotein C3 gene DOID:0080690 RASopathy ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8801468 Apoc3 apolipoprotein C3 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:737569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-I deficiency PMID:2506176|PMID:6800349 8801468 Apoc3 apolipoprotein C3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8801468 Apoc3 apolipoprotein C3 gene DOID:0111123 nephronophthisis 15 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8801468 Apoc3 apolipoprotein C3 gene DOID:0111370 apolipoprotein C-III deficiency ISO RGD:737569 D RGD:7240710 20180130 OMIM 8801468 Apoc3 apolipoprotein C3 gene DOID:0111370 apolipoprotein C-III deficiency ISO RGD:737569 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Apolipoprotein c-III deficiency | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 2 PMID:11060345|PMID:19074352|PMID:20097930|PMID:2022742|PMID:23701270|PMID:24941081|PMID:24941082|PMID:25225788|PMID:25962519|PMID:27114411|PMID:28406212|PMID:28492532|PMID:28825717|PMID:29237685|PMID:30255797|PMID:32041611|PMID:34548093|PMID:36876364 8801468 Apoc3 apolipoprotein C3 gene DOID:0111971 immunodeficiency 18 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8801468 Apoc3 apolipoprotein C3 gene DOID:0111972 immunodeficiency 19 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8801468 Apoc3 apolipoprotein C3 gene DOID:0111973 immunodeficiency 17 ISO RGD:737569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8801468 Apoc3 apolipoprotein C3 gene DOID:1059 intellectual disability ISO RGD:737569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8801468 Apoc3 apolipoprotein C3 gene DOID:10603 glucose intolerance ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:11959336|REF_RGD_ID:1578441 8801468 Apoc3 apolipoprotein C3 gene DOID:10608 celiac disease ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8801468 Apoc3 apolipoprotein C3 gene DOID:1067 open-angle glaucoma ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression: aqueous humor: PMID:23860758|REF_RGD_ID:10054092 8801468 Apoc3 apolipoprotein C3 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome disease_progression ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:20797315|REF_RGD_ID:7207210 8801468 Apoc3 apolipoprotein C3 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:10179 D RGD:9068941 20200609 RGD PMID:23542898|REF_RGD_ID:10054091 8801468 Apoc3 apolipoprotein C3 gene DOID:1184 nephrotic syndrome ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8366982|REF_RGD_ID:2313970 8801468 Apoc3 apolipoprotein C3 gene DOID:1287 cardiovascular system disease ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 8801468 Apoc3 apolipoprotein C3 gene DOID:13580 cholestasis ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:17201892|REF_RGD_ID:10054045 8801468 Apoc3 apolipoprotein C3 gene DOID:13809 familial combined hyperlipidemia ISO RGD:10179 D RGD:9068941 20200609 RGD PMID:15863838|REF_RGD_ID:1601225 8801468 Apoc3 apolipoprotein C3 gene DOID:13809 familial combined hyperlipidemia ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:haplotype, snp:3' utr:g.3175G>C (human) PMID:9062353|REF_RGD_ID:5685674 8801468 Apoc3 apolipoprotein C3 gene DOID:13809 familial combined hyperlipidemia no_association ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:haplotype, snp:3' utr:g.3175G>C (human) PMID:9812922|REF_RGD_ID:5685676 8801468 Apoc3 apolipoprotein C3 gene DOID:1459 hypothyroidism ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:8429259|REF_RGD_ID:1599190 8801468 Apoc3 apolipoprotein C3 gene DOID:1561 cognitive disorder ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; PMID:19424489|REF_RGD_ID:10054096 8801468 Apoc3 apolipoprotein C3 gene DOID:1612 breast cancer disease_progression ISO RGD:737569 D RGD:9068941 20220908 RGD PMID:28715644|REF_RGD_ID:153350084 8801468 Apoc3 apolipoprotein C3 gene DOID:2154 nephroblastoma ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22160518|REF_RGD_ID:7207220 8801468 Apoc3 apolipoprotein C3 gene DOID:2972 renal artery obstruction ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21613792|REF_RGD_ID:7207208 8801468 Apoc3 apolipoprotein C3 gene DOID:3145 hyperlipoproteinemia type III ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:2879788|REF_RGD_ID:1578447 8801468 Apoc3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 8801468 Apoc3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:14709372|REF_RGD_ID:1578443 8801468 Apoc3 apolipoprotein C3 gene DOID:3393 coronary artery disease ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-482C>T, in women without Diabetes Mellitus, Type 2 (MeSH:D003924) PMID:15059615|REF_RGD_ID:1626412 8801468 Apoc3 apolipoprotein C3 gene DOID:3717 gastric adenocarcinoma ISO RGD:737569 D RGD:9068941 20220901 RGD protein:decreased expression:serum PMID:21267442|REF_RGD_ID:153344621 8801468 Apoc3 apolipoprotein C3 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:737569 D RGD:9068941 20220908 RGD PMID:27002935|REF_RGD_ID:153350083 8801468 Apoc3 apolipoprotein C3 gene DOID:3910 lung adenocarcinoma ISO RGD:737569 D RGD:9068941 20220901 RGD protein:altered glycosylation:: PMID:19322776|REF_RGD_ID:153344619 8801468 Apoc3 apolipoprotein C3 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:737569 D RGD:9068941 20220908 RGD PMID:26996551|REF_RGD_ID:11561502 8801468 Apoc3 apolipoprotein C3 gene DOID:5844 myocardial infarction ISO RGD:737569 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to 8801468 Apoc3 apolipoprotein C3 gene DOID:5844 myocardial infarction no_association ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:10428310|REF_RGD_ID:1578442 8801468 Apoc3 apolipoprotein C3 gene DOID:630 genetic disease ISO RGD:737569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801468 Apoc3 apolipoprotein C3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737569 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 8801468 Apoc3 apolipoprotein C3 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737569 D RGD:9068941 20220901 RGD associated with Chronic Hepatitis B;DNA:SNP: :rs2854116(human) PMID:27547913|REF_RGD_ID:153344620 8801468 Apoc3 apolipoprotein C3 gene DOID:783 end stage renal disease ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:8139482|REF_RGD_ID:2313968 8801468 Apoc3 apolipoprotein C3 gene DOID:783 end stage renal disease ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:10822722|REF_RGD_ID:7207212 8801468 Apoc3 apolipoprotein C3 gene DOID:784 chronic kidney disease ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:21297177|REF_RGD_ID:7207209 8801468 Apoc3 apolipoprotein C3 gene DOID:784 chronic kidney disease ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21829457|REF_RGD_ID:7207207 8801468 Apoc3 apolipoprotein C3 gene DOID:7998 hyperthyroidism ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:8429259|REF_RGD_ID:1599190 8801468 Apoc3 apolipoprotein C3 gene DOID:8947 diabetic retinopathy severity ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15642486|REF_RGD_ID:2306768 8801468 Apoc3 apolipoprotein C3 gene DOID:9000528 Coronary Disease ISO RGD:737569 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Coronary heart disease PMID:11060345|PMID:19074352|PMID:20097930|PMID:23701270|PMID:24941081|PMID:24941082|PMID:25225788|PMID:25962519|PMID:27114411|PMID:28406212|PMID:28492532|PMID:28825717|PMID:29237685|PMID:30255797|PMID:32041611|PMID:34548093|PMID:36876364 8801468 Apoc3 apolipoprotein C3 gene DOID:9000528 Coronary Disease no_association ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-482C>T PMID:16321685|REF_RGD_ID:1601224 8801468 Apoc3 apolipoprotein C3 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:17654446|REF_RGD_ID:2306754 8801468 Apoc3 apolipoprotein C3 gene DOID:9000808 Hypercholesterolemia ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:2879788|REF_RGD_ID:1578447 8801468 Apoc3 apolipoprotein C3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-455T>C PMID:16813599|REF_RGD_ID:2306755 8801468 Apoc3 apolipoprotein C3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8801468 Apoc3 apolipoprotein C3 gene DOID:9004968 Yin Deficiency ISO RGD:2136 D RGD:9068941 20220908 RGD protein:decreased expression:serum PMID:27843478|REF_RGD_ID:153350089 8801468 Apoc3 apolipoprotein C3 gene DOID:9005172 Lung Neoplasms ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532 8801468 Apoc3 apolipoprotein C3 gene DOID:9005236 Drug Eruptions ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21055120 8801468 Apoc3 apolipoprotein C3 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 8801468 Apoc3 apolipoprotein C3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:7705829|REF_RGD_ID:1578444 8801468 Apoc3 apolipoprotein C3 gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:737569 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent or Coronary Disease;DNA:polymorphism PMID:15715433|REF_RGD_ID:2306767 8801468 Apoc3 apolipoprotein C3 gene DOID:9006646 Metabolic Syndrome ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:16298371|REF_RGD_ID:2306766 8801468 Apoc3 apolipoprotein C3 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-482C>T, -455T>C PMID:17416293|REF_RGD_ID:1601223 8801468 Apoc3 apolipoprotein C3 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:737569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2022742 8801468 Apoc3 apolipoprotein C3 gene DOID:9007661 Dwarfism ISO RGD:737569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8801468 Apoc3 apolipoprotein C3 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:10179 D RGD:9068941 20200609 RGD PMID:15734841|REF_RGD_ID:1601226 8801468 Apoc3 apolipoprotein C3 gene DOID:9007692 Insulin Resistance treatment ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:15007394|REF_RGD_ID:1580750 8801468 Apoc3 apolipoprotein C3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:737569 D RGD:9068941 20220901 RGD PMID:31502404|REF_RGD_ID:153344612 8801468 Apoc3 apolipoprotein C3 gene DOID:9351 diabetes mellitus ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2352345|REF_RGD_ID:2313973 8801468 Apoc3 apolipoprotein C3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2136 D RGD:9068941 20200609 RGD PMID:21670290|REF_RGD_ID:7207205 8801468 Apoc3 apolipoprotein C3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737569 D RGD:9068941 20200609 RGD PMID:1579407|REF_RGD_ID:2313972 8801468 Apoc3 apolipoprotein C3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:737569 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:16505251|REF_RGD_ID:2306765 8801468 Apoc3 apolipoprotein C3 gene DOID:9970 obesity ISO RGD:737569 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9002300|REF_RGD_ID:1601191 8801481 Faxc failed axon connections homolog, metaxin like GST domain containing gene DOID:10283 prostate cancer ISO RGD:1347110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8801481 Faxc failed axon connections homolog, metaxin like GST domain containing gene DOID:630 genetic disease ISO RGD:1347110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801495 Ppfia3 PTPRF interacting protein alpha 3 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1312318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8801495 Ppfia3 PTPRF interacting protein alpha 3 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1312318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 8801495 Ppfia3 PTPRF interacting protein alpha 3 gene DOID:630 genetic disease ISO RGD:1312318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0050952 spastic ataxia ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 ISO RGD:731981 D RGD:7240710 20240228 OMIM 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 ISO RGD:731981 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:15937479|PMID:16199547|PMID:16946189|PMID:17576681|PMID:18414213|PMID:19266219|PMID:20430843|PMID:25326635|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28492532|PMID:29330545|PMID:29356177|PMID:29545233|PMID:29738522|PMID:29933521|PMID:31069529|PMID:31152168|PMID:9536098 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:0080600 COVID-19 ISO RGD:731981 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1059 intellectual disability ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:19266219|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31152168 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:731981 D RGD:9068941 20200609 RGD DNA:SNP: :rs16934131 (human) PMID:21480501|REF_RGD_ID:10412025 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:11981 morbid obesity ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21708048 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:12849 autistic disorder ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16946189 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1824 status epilepticus ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18695509 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:1826 epilepsy ISO RGD:731981 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:4450 renal cell carcinoma ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:630 genetic disease ISO RGD:731981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12366739|PMID:15184377|PMID:15194823|PMID:15937479|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28383543|PMID:28492532|PMID:29330545|PMID:31152168|PMID:32132200 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28090300 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9000099 Experimental Colitis ISO RGD:620715 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon PMID:23986198|REF_RGD_ID:10412026 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21695131 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9003251 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ISO RGD:731981 D RGD:7240710 20240228 OMIM 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9003251 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES ISO RGD:731981 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures PMID:17576681|PMID:25741868|PMID:26467025|PMID:27567911|PMID:28492532|PMID:29545233|PMID:9536098 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004657 Weight Gain ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27605626 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004958 Idiopathic Generalized Epilepsy 16 ISO RGD:731981 D RGD:7240710 20240228 OMIM 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9004958 Idiopathic Generalized Epilepsy 16 ISO RGD:731981 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 16 PMID:25741868|PMID:28492532 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:731981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620715 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta, smooth muscle PMID:24589593|REF_RGD_ID:10412030 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9006257 Growth Disorders ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242822 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008539 Perinatal Death ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242822 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008959 Liang-Wang Syndrome ISO RGD:731981 D RGD:7240710 20240228 OMIM 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9008959 Liang-Wang Syndrome ISO RGD:731981 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Liang-Wang syndrome PMID:12366739|PMID:15184377|PMID:15194823|PMID:15937479|PMID:17576681|PMID:25741868|PMID:26195193|PMID:26467025|PMID:27567911|PMID:28383543|PMID:28492532|PMID:31069529|PMID:31152168|PMID:32132200|PMID:9536098 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15088113 8801529 Kcnma1 potassium calcium-activated channel subfamily M alpha 1 gene DOID:9970 obesity ISO RGD:731981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27605626 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:0060254 Robinow syndrome ISO RGD:733042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:733042 D RGD:7240710 20180130 OMIM 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:10319206|PMID:23806086|PMID:24088041|PMID:25045061|PMID:25741868|PMID:25817014|PMID:25817016|PMID:26924530|PMID:28492532|PMID:29276006 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:733042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:25045061|PMID:25741868|PMID:25817014|PMID:28492532 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:11198 DiGeorge syndrome ISO RGD:733042 D RGD:9068941 20200609 RGD PMID:8644734|REF_RGD_ID:1580898 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:150 disease of mental health ISO RGD:733043 D RGD:9068941 20200609 RGD PMID:9298901|REF_RGD_ID:734906 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:5844 myocardial infarction ISO RGD:620632 D RGD:9068941 20200609 RGD PMID:15256074|REF_RGD_ID:1580899 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:630 genetic disease ISO RGD:733042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:733042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8801573 Dvl1 dishevelled segment polarity protein 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:733042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8801590 Rhbdl3 rhomboid like 3 gene DOID:630 genetic disease ISO RGD:1352464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801604 Oxr1 oxidation resistance 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:736990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31785787 8801604 Oxr1 oxidation resistance 1 gene DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay ISO RGD:736990 D RGD:7240710 20200325 OMIM 8801604 Oxr1 oxidation resistance 1 gene DOID:1826 epilepsy ISO RGD:736990 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31785787 8801604 Oxr1 oxidation resistance 1 gene DOID:630 genetic disease ISO RGD:736990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801604 Oxr1 oxidation resistance 1 gene DOID:9004538 Hearing Loss ISO RGD:736990 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:36130215 8801654 Itih1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1314518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8801654 Itih1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:3312 bipolar disorder ISO RGD:1314518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8801654 Itih1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:630 genetic disease ISO RGD:1314518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801654 Itih1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1314518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8801654 Itih1 inter-alpha-trypsin inhibitor heavy chain 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1314518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 8801683 Doc2a double C2 domain alpha gene DOID:0060019 coronin-1A deficiency ISO RGD:731423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8801683 Doc2a double C2 domain alpha gene DOID:0060041 autism spectrum disorder ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8801683 Doc2a double C2 domain alpha gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:731423 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8801683 Doc2a double C2 domain alpha gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:731423 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8801683 Doc2a double C2 domain alpha gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:731423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8801683 Doc2a double C2 domain alpha gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:731423 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8801683 Doc2a double C2 domain alpha gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:731423 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8801683 Doc2a double C2 domain alpha gene DOID:12849 autistic disorder ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8801683 Doc2a double C2 domain alpha gene DOID:5419 schizophrenia ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8801683 Doc2a double C2 domain alpha gene DOID:630 genetic disease ISO RGD:731423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801683 Doc2a double C2 domain alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8801683 Doc2a double C2 domain alpha gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:731423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:1059 intellectual disability ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:10763 hypertension ISO RGD:2395 D RGD:9068941 20200609 RGD protein:decreased expression:liver, mitochondrion PMID:19135993|REF_RGD_ID:2303405 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11407344 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:70833 D RGD:9068941 20200609 RGD CACD, OMIM:265380, DNA:polymorphism:T1405N PMID:11407344|REF_RGD_ID:1600716 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:178 vascular disease ISO RGD:70833 D RGD:9068941 20200609 RGD venoocclusive disease, DNA:polymorphism:T1405N PMID:14718356|REF_RGD_ID:1600717 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:630 genetic disease ISO RGD:70833 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17310273|PMID:17576681|PMID:19684305|PMID:20855223|PMID:21120950|PMID:22575620|PMID:24813853|PMID:25741868|PMID:28492532|PMID:32718099|PMID:33309754|PMID:33489762|PMID:34014557|PMID:34440436|PMID:9536098 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:70833 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9000722 Animal Hepatitis ISO RGD:2395 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8821709|REF_RGD_ID:2303519 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2395 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:17539997|REF_RGD_ID:2303515 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9001586 Experimental Liver Neoplasms severity ISO RGD:2395 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:3387993|REF_RGD_ID:2303406 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2395 D RGD:9068941 20200609 RGD PMID:3973436|REF_RGD_ID:2303532 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9002802 Acidoses ISO RGD:2395 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:9472964|REF_RGD_ID:4144071 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO treatment ISO RGD:10389 D RGD:9068941 20200609 RGD PMID:29801986|REF_RGD_ID:13628400 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9003515 Neonatal Pulmonary Hypertension ISO RGD:70833 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to PMID:11388595|PMID:11407344|PMID:11536261|PMID:12655559|PMID:12955727|PMID:14718356|PMID:15050969|PMID:15164414|PMID:15465784|PMID:15617192|PMID:15876373|PMID:16199547|PMID:16708072|PMID:16737834|PMID:17310273|PMID:17576681|PMID:19167850|PMID:19684305|PMID:19793055|PMID:20154341|PMID:20578160|PMID:20800523|PMID:21068339|PMID:21120950|PMID:21767969|PMID:22173106|PMID:22575620|PMID:23649895|PMID:24813853|PMID:25741868|PMID:26059772|PMID:26440671|PMID:27150549|PMID:27290639|PMID:27436290|PMID:28444906|PMID:28492532|PMID:28526534|PMID:28658158|PMID:30285816|PMID:31392117|PMID:31435610|PMID:31507628|PMID:31749211|PMID:32154057|PMID:32537019|PMID:32718099|PMID:32934962|PMID:33190319|PMID:33240318|PMID:33309754|PMID:33489762|PMID:33851512|PMID:33924653|PMID:34014557|PMID:34298581|PMID:34440436|PMID:34970092|PMID:8486760|PMID:9536098|PMID:9686343|PMID:9711878 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9003515 Neonatal Pulmonary Hypertension susceptibility ISO RGD:70833 D RGD:7240710 20240308 OMIM 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:70833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2395 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:2882780|REF_RGD_ID:4144110 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9005930 Endotoxemia ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9006462 Coma ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8438805 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9007874 Liver Failure ISO RGD:2395 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:8836904|REF_RGD_ID:4140432 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9007874 Liver Failure ISO RGD:2395 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9008972 Hyperammonemia ISO RGD:70833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17310273|PMID:8486760 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9280 carbamoyl phosphate synthetase I deficiency disease ISO RGD:70833 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital hyperammonemia, type I PMID:11388595|PMID:11407344|PMID:11474210|PMID:11536261|PMID:12655559|PMID:12955727|PMID:14718356|PMID:15050969|PMID:15164414|PMID:15465784|PMID:15617192|PMID:15876373|PMID:16199547|PMID:16708072|PMID:16737834|PMID:17310273|PMID:17357079|PMID:17576681|PMID:18414213|PMID:18666241|PMID:19167850|PMID:19309799|PMID:19684305|PMID:19793055|PMID:20154341|PMID:20578160|PMID:20800523|PMID:20855223|PMID:21068339|PMID:21108709|PMID:21120950|PMID:21767969|PMID:22173106|PMID:22494545|PMID:22575620|PMID:23649895|PMID:24813853|PMID:24880889|PMID:25640679|PMID:25741868|PMID:26059772|PMID:26440671|PMID:27150549|PMID:27290639|PMID:27436290|PMID:28007335|PMID:28444906|PMID:28492532|PMID:28526534|PMID:28658158|PMID:29888426|PMID:30285816|PMID:31392117|PMID:31435610|PMID:31507628|PMID:31749211|PMID:32154057|PMID:32280145|PMID:32537019|PMID:32670798|PMID:32718099|PMID:32934962|PMID:33190319|PMID:33309754|PMID:33489762|PMID:33551825|PMID:33611823|PMID:33851512|PMID:33924653|PMID:34014557|PMID:34298581|PMID:34440436|PMID:34970092|PMID:8486760|PMID:9536098|PMID:9686343|PMID:9711878 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9280 carbamoyl phosphate synthetase I deficiency disease susceptibility ISO RGD:70833 D RGD:7240710 20240308 OMIM 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:936 brain disease ISO RGD:70833 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9452 steatotic liver disease ISO RGD:2395 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:20347174|REF_RGD_ID:4144089 8801714 Cps1 carbamoyl-phosphate synthase 1 gene DOID:9970 obesity ISO RGD:2395 D RGD:9068941 20200609 RGD PMID:15481768|REF_RGD_ID:2303517 8801756 Wdr19 WD repeat domain 19 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1353133 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:33517396|PMID:36909829 8801756 Wdr19 WD repeat domain 19 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1353133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia PMID:22019273|PMID:23559409|PMID:23683095|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:29068549|PMID:32165824 8801756 Wdr19 WD repeat domain 19 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1353133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549 8801756 Wdr19 WD repeat domain 19 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1353133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549|PMID:33875766 8801756 Wdr19 WD repeat domain 19 gene DOID:0050795 cone dystrophy ISO RGD:1353133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549 8801756 Wdr19 WD repeat domain 19 gene DOID:0050876 Caroli disease ISO RGD:1353133 D RGD:9068941 20200609 RGD associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) PMID:25726036|REF_RGD_ID:11528287 8801756 Wdr19 WD repeat domain 19 gene DOID:0060340 ciliopathy ISO RGD:1549987 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L750P (mouse) PMID:22228095|REF_RGD_ID:11552606 8801756 Wdr19 WD repeat domain 19 gene DOID:0060340 ciliopathy ISO RGD:1549987 D RGD:9068941 20220825 MouseDO 8801756 Wdr19 WD repeat domain 19 gene DOID:0080806 cranioectodermal dysplasia 4 ISO RGD:1353133 D RGD:7240710 20180130 OMIM 8801756 Wdr19 WD repeat domain 19 gene DOID:0080806 cranioectodermal dysplasia 4 ISO RGD:1353133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 4 PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:29068549|PMID:31725169|PMID:32165824|PMID:32483926|PMID:33517396|PMID:34295353|PMID:36909829|PMID:9536098 8801756 Wdr19 WD repeat domain 19 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:28973083|PMID:29068549 8801756 Wdr19 WD repeat domain 19 gene DOID:0110089 asphyxiating thoracic dystrophy 5 ISO RGD:1353133 D RGD:7240710 20180130 OMIM 8801756 Wdr19 WD repeat domain 19 gene DOID:0110089 asphyxiating thoracic dystrophy 5 ISO RGD:1353133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY PMID:16199547|PMID:17576681|PMID:19430947|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:24504730|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:26355662|PMID:26489029|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:28973083|PMID:29068549|PMID:29801666|PMID:30266093|PMID:30586318|PMID:31054281|PMID:31725169|PMID:31837199|PMID:32037395|PMID:32165824|PMID:32483926|PMID:33002628|PMID:33517396|PMID:33532864|PMID:34295353|PMID:34906470|PMID:36909829|PMID:9536098 8801756 Wdr19 WD repeat domain 19 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353133 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:25741868|PMID:33002628|PMID:33532864 8801756 Wdr19 WD repeat domain 19 gene DOID:0111121 nephronophthisis 13 ISO RGD:1353133 D RGD:7240710 20180130 OMIM 8801756 Wdr19 WD repeat domain 19 gene DOID:0111121 nephronophthisis 13 ISO RGD:1353133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephronophthisis 13 PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25726036|PMID:25741868|PMID:25741897|PMID:26260382|PMID:26275793|PMID:26489029|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:28973083|PMID:29068549|PMID:32165824|PMID:32483926|PMID:33002628|PMID:33532864|PMID:9536098 8801756 Wdr19 WD repeat domain 19 gene DOID:10584 retinitis pigmentosa ISO RGD:1353133 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:34906470 8801756 Wdr19 WD repeat domain 19 gene DOID:1059 intellectual disability ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8801756 Wdr19 WD repeat domain 19 gene DOID:14791 Leber congenital amaurosis ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:23559409|PMID:25726036|PMID:25741868|PMID:26260382|PMID:27596865|PMID:28492532|PMID:28621010|PMID:32165824 8801756 Wdr19 WD repeat domain 19 gene DOID:1909 melanoma ISO RGD:1353133 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8801756 Wdr19 WD repeat domain 19 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353133 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 8801756 Wdr19 WD repeat domain 19 gene DOID:630 genetic disease ISO RGD:1353133 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549|PMID:34906470 8801756 Wdr19 WD repeat domain 19 gene DOID:65 connective tissue disease ISO RGD:1353133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:29068549|PMID:32483926|PMID:33517396|PMID:36909829|PMID:9536098 8801756 Wdr19 WD repeat domain 19 gene DOID:8501 fundus dystrophy ISO RGD:1353133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22019273|PMID:23559409|PMID:23683095|PMID:25741868|PMID:26275793|PMID:26489029|PMID:27241786|PMID:28492532|PMID:29068549|PMID:30586318|PMID:34295353 8801756 Wdr19 WD repeat domain 19 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1353133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8801756 Wdr19 WD repeat domain 19 gene DOID:9004444 Senior-Loken Syndrome 8 ISO RGD:1353133 D RGD:7240710 20180130 OMIM 8801756 Wdr19 WD repeat domain 19 gene DOID:9004444 Senior-Loken Syndrome 8 ISO RGD:1353133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 8 PMID:16199547|PMID:17576681|PMID:22019273|PMID:23559409|PMID:23683095|PMID:24027799|PMID:24027800|PMID:25726036|PMID:25741868|PMID:26260382|PMID:26275793|PMID:26489029|PMID:27241786|PMID:27596865|PMID:28492532|PMID:28621010|PMID:28973083|PMID:29068549|PMID:29801666|PMID:30586318|PMID:32165824|PMID:32483926|PMID:33002628|PMID:33517396|PMID:33532864|PMID:34295353|PMID:36909829|PMID:9536098 8801756 Wdr19 WD repeat domain 19 gene DOID:9005229 Spermatogenic Failure 72 ISO RGD:1353133 D RGD:7240710 20220518 OMIM 8801756 Wdr19 WD repeat domain 19 gene DOID:9005229 Spermatogenic Failure 72 ISO RGD:1353133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 72 PMID:17576681|PMID:25741868|PMID:28492532|PMID:32323121|PMID:32483926|PMID:9536098 8801756 Wdr19 WD repeat domain 19 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532|PMID:31837199 8801756 Wdr19 WD repeat domain 19 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1353133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:16199547|PMID:22019273|PMID:23559409|PMID:23683095|PMID:26275793|PMID:27241786|PMID:28492532|PMID:29068549 8801802 Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:576 proteinuria ISO RGD:620100 D RGD:9068941 20200609 RGD PMID:21257920|REF_RGD_ID:12798539 8801802 Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:737363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801802 Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23798564 8801802 Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase gene DOID:9006549 Enterovirus Infections ISO RGD:737363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 8801845 Rai14 retinoic acid induced 14 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1314269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 8801845 Rai14 retinoic acid induced 14 gene DOID:630 genetic disease ISO RGD:1314269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801845 Rai14 retinoic acid induced 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8801874 Zhx3 zinc fingers and homeoboxes 3 gene DOID:2234 focal epilepsy ISO RGD:1342474 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8801874 Zhx3 zinc fingers and homeoboxes 3 gene DOID:3393 coronary artery disease ISO RGD:1342474 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Coronary atherosclerosis PMID:28492532 8801874 Zhx3 zinc fingers and homeoboxes 3 gene DOID:630 genetic disease ISO RGD:1342474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8801909 Pou2f2 POU class 2 homeobox 2 gene DOID:0050888 syndromic intellectual disability ISO RGD:1347223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 8801909 Pou2f2 POU class 2 homeobox 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8801909 Pou2f2 POU class 2 homeobox 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8801909 Pou2f2 POU class 2 homeobox 2 gene DOID:2340 craniosynostosis ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 8801909 Pou2f2 POU class 2 homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1347223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8801909 Pou2f2 POU class 2 homeobox 2 gene DOID:630 genetic disease ISO RGD:1347223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801909 Pou2f2 POU class 2 homeobox 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8801909 Pou2f2 POU class 2 homeobox 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1347223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8801909 Pou2f2 POU class 2 homeobox 2 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1347223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 8801909 Pou2f2 POU class 2 homeobox 2 gene DOID:9269 maple syrup urine disease ISO RGD:1347223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8801941 Adgre1 adhesion G protein-coupled receptor E1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1342649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8801941 Adgre1 adhesion G protein-coupled receptor E1 gene DOID:630 genetic disease ISO RGD:1342649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801941 Adgre1 adhesion G protein-coupled receptor E1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8801966 Ghitm growth hormone inducible transmembrane protein gene DOID:630 genetic disease ISO RGD:1345873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8801985 Xrra1 X-ray radiation resistance associated 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1313568 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8801985 Xrra1 X-ray radiation resistance associated 1 gene DOID:1059 intellectual disability ISO RGD:1313568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8801985 Xrra1 X-ray radiation resistance associated 1 gene DOID:630 genetic disease ISO RGD:1313568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802023 Hoxb7 homeobox B7 gene DOID:3008 invasive ductal carcinoma ISO RGD:1349103 D RGD:9068941 20200609 RGD mRNA:increased expression:breast epithelium (human) PMID:17018609|REF_RGD_ID:10402178 8802023 Hoxb7 homeobox B7 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1349103 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa (human) PMID:26076456|REF_RGD_ID:10402177 8802023 Hoxb7 homeobox B7 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1349103 D RGD:9068941 20200609 RGD protein:increased expression:lung epithelium (human) PMID:22911672|REF_RGD_ID:10402176 8802023 Hoxb7 homeobox B7 gene DOID:630 genetic disease ISO RGD:1349103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802032 Zbed2 zinc finger BED-type containing 2 gene DOID:630 genetic disease ISO RGD:1348309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802036 Snx2 sorting nexin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321108 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8802036 Snx2 sorting nexin 2 gene DOID:630 genetic disease ISO RGD:1321108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802036 Snx2 sorting nexin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8802036 Snx2 sorting nexin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321108 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8802036 Snx2 sorting nexin 2 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1321108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 8802055 Lancl3 LanC like family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8802055 Lancl3 LanC like family member 3 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 8802055 Lancl3 LanC like family member 3 gene DOID:12849 autistic disorder ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8802055 Lancl3 LanC like family member 3 gene DOID:630 genetic disease ISO RGD:1349608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802055 Lancl3 LanC like family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8802055 Lancl3 LanC like family member 3 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1349608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8802067 Luzp1 leucine zipper protein 1 gene DOID:630 genetic disease ISO RGD:736317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802067 Luzp1 leucine zipper protein 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8802081 Creb3l1 cAMP responsive element binding protein 3 like 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1342471 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8802081 Creb3l1 cAMP responsive element binding protein 3 like 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1342471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8802081 Creb3l1 cAMP responsive element binding protein 3 like 1 gene DOID:0110345 osteogenesis imperfecta type 16 ISO RGD:1342471 D RGD:7240710 20190315 OMIM 8802081 Creb3l1 cAMP responsive element binding protein 3 like 1 gene DOID:0110345 osteogenesis imperfecta type 16 ISO RGD:1342471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 16 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29936144|PMID:30657919 8802081 Creb3l1 cAMP responsive element binding protein 3 like 1 gene DOID:1059 intellectual disability ISO RGD:1342471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8802081 Creb3l1 cAMP responsive element binding protein 3 like 1 gene DOID:3307 teratoma ISO RGD:1342471 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Teratoma 8802081 Creb3l1 cAMP responsive element binding protein 3 like 1 gene DOID:630 genetic disease ISO RGD:1342471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8802081 Creb3l1 cAMP responsive element binding protein 3 like 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1342471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8802081 Creb3l1 cAMP responsive element binding protein 3 like 1 gene DOID:905 Zellweger syndrome ISO RGD:1342471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8802097 Krt1 keratin 1 gene DOID:0050428 nonepidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:7240710 20180130 OMIM 8802097 Krt1 keratin 1 gene DOID:0050428 nonepidermolytic palmoplantar keratoderma ISO RGD:1346930 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma PMID:19470048|PMID:25741868|PMID:28492532 8802097 Krt1 keratin 1 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1346930 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma PMID:12406348|PMID:25741868|PMID:30288772 8802097 Krt1 keratin 1 gene DOID:0081110 keratosis palmoplantaris striata 3 ISO RGD:1346930 D RGD:7240710 20180130 OMIM 8802097 Krt1 keratin 1 gene DOID:0081110 keratosis palmoplantaris striata 3 ISO RGD:1346930 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata 3 8802097 Krt1 keratin 1 gene DOID:0081358 epidermolytic hyperkeratosis 1 ISO RGD:1346930 D RGD:7240710 20230517 OMIM 8802097 Krt1 keratin 1 gene DOID:0081358 epidermolytic hyperkeratosis 1 ISO RGD:1346930 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 1 PMID:25741868|PMID:30288772 8802097 Krt1 keratin 1 gene DOID:10283 prostate cancer ISO RGD:1346930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8802097 Krt1 keratin 1 gene DOID:161 keratosis ISO RGD:1346930 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35363433 8802097 Krt1 keratin 1 gene DOID:1697 ichthyosis ISO RGD:1346930 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:25741868 8802097 Krt1 keratin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1346930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8802097 Krt1 keratin 1 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1346930 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:12406348|PMID:12648226|PMID:1284546|PMID:1380725|PMID:1381288|PMID:25741868|PMID:26581228|PMID:28492532|PMID:30288772|PMID:33363884 8802097 Krt1 keratin 1 gene DOID:4603 epidermolytic hyperkeratosis susceptibility ISO RGD:1346930 D RGD:9068941 20200609 RGD DNA:mutation: ; 5191/5192GG>A PMID:11286616|REF_RGD_ID:1600166 8802097 Krt1 keratin 1 gene DOID:630 genetic disease ISO RGD:1346930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802097 Krt1 keratin 1 gene DOID:9002744 Ichthyosis Hystrix, Curth Macklin Type ISO RGD:1346930 D RGD:7240710 20180130 OMIM 8802097 Krt1 keratin 1 gene DOID:9002744 Ichthyosis Hystrix, Curth Macklin Type ISO RGD:1346930 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type PMID:16417221|PMID:21844476|PMID:22834809 8802097 Krt1 keratin 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1346930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8802097 Krt1 keratin 1 gene DOID:9005778 Annular Epidermolytic Ichthyosis ISO RGD:1346930 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Annular epidermolytic ichthyosis PMID:10053007|PMID:14708600|PMID:15214894|PMID:22250628|PMID:25741868|PMID:28492532|PMID:30152556|PMID:31046801|PMID:8751983 8802097 Krt1 keratin 1 gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1346930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma PMID:25774499 8802097 Krt1 keratin 1 gene DOID:9006539 Epidermolytic Palmoplantar Keratoderma 2 ISO RGD:1346930 D RGD:7240710 20230614 OMIM 8802097 Krt1 keratin 1 gene DOID:9006539 Epidermolytic Palmoplantar Keratoderma 2 ISO RGD:1346930 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic, 2 PMID:11286630|PMID:25741868|PMID:28492532|PMID:37122192 8802097 Krt1 keratin 1 gene DOID:9006935 Annular Epidermolytic Ichthyosis 2 ISO RGD:1346930 D RGD:7240710 20221214 OMIM 8802097 Krt1 keratin 1 gene DOID:9006935 Annular Epidermolytic Ichthyosis 2 ISO RGD:1346930 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 PMID:10053007|PMID:15214894|PMID:16227096|PMID:22250628|PMID:25741868|PMID:28492532|PMID:30152556 8802108 Ermp1 endoplasmic reticulum metallopeptidase 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8802108 Ermp1 endoplasmic reticulum metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1348332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802130 Phyhipl phytanoyl-CoA 2-hydroxylase interacting protein like gene DOID:630 genetic disease ISO RGD:1317467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802150 Basp1 brain abundant membrane attached signal protein 1 gene DOID:305 carcinoma ISO RGD:1347703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8802150 Basp1 brain abundant membrane attached signal protein 1 gene DOID:630 genetic disease ISO RGD:1347703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802150 Basp1 brain abundant membrane attached signal protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8802150 Basp1 brain abundant membrane attached signal protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8802150 Basp1 brain abundant membrane attached signal protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8802160 Zbtb7a zinc finger and BTB domain containing 7A gene DOID:13938 amenorrhea ISO RGD:1350408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8802160 Zbtb7a zinc finger and BTB domain containing 7A gene DOID:3068 glioblastoma ISO RGD:1350408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25875864 8802160 Zbtb7a zinc finger and BTB domain containing 7A gene DOID:630 genetic disease ISO RGD:1350408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802160 Zbtb7a zinc finger and BTB domain containing 7A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350408 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23727861 8802160 Zbtb7a zinc finger and BTB domain containing 7A gene DOID:9002875 MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN ISO RGD:1350408 D RGD:7240710 20220504 OMIM 8802160 Zbtb7a zinc finger and BTB domain containing 7A gene DOID:9002875 MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN ISO RGD:1350408 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin PMID:25741868|PMID:31645653|PMID:34515416 8802160 Zbtb7a zinc finger and BTB domain containing 7A gene DOID:9119 acute myeloid leukemia ISO RGD:1350408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 8802173 Anxa9 annexin A9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8802173 Anxa9 annexin A9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8802173 Anxa9 annexin A9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8802173 Anxa9 annexin A9 gene DOID:1540 parathyroid carcinoma ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8802173 Anxa9 annexin A9 gene DOID:5812 MHC class II deficiency ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8802173 Anxa9 annexin A9 gene DOID:630 genetic disease ISO RGD:1352405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802173 Anxa9 annexin A9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8802192 Aph1a aph-1 homolog A, gamma-secretase subunit gene DOID:0111940 immunodeficiency 42 ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8802192 Aph1a aph-1 homolog A, gamma-secretase subunit gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8802192 Aph1a aph-1 homolog A, gamma-secretase subunit gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8802192 Aph1a aph-1 homolog A, gamma-secretase subunit gene DOID:10652 Alzheimer's disease treatment ISO RGD:1550286 D RGD:9068941 20200609 RGD PMID:28588301|PMID:29926633|REF_RGD_ID:13703122|REF_RGD_ID:13703123 8802192 Aph1a aph-1 homolog A, gamma-secretase subunit gene DOID:1540 parathyroid carcinoma ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8802192 Aph1a aph-1 homolog A, gamma-secretase subunit gene DOID:5812 MHC class II deficiency ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8802192 Aph1a aph-1 homolog A, gamma-secretase subunit gene DOID:630 genetic disease ISO RGD:1349695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802192 Aph1a aph-1 homolog A, gamma-secretase subunit gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8802212 Fam110d family with sequence similarity 110 member D gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1602464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8802212 Fam110d family with sequence similarity 110 member D gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1602464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8802212 Fam110d family with sequence similarity 110 member D gene DOID:630 genetic disease ISO RGD:1602464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802218 Cisd3 CDGSH iron sulfur domain 3 gene DOID:630 genetic disease ISO RGD:1626692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8802225 Ccna2 cyclin A2 gene DOID:0080600 COVID-19 ISO RGD:1348754 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8802225 Ccna2 cyclin A2 gene DOID:1059 intellectual disability ISO RGD:1348754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8802225 Ccna2 cyclin A2 gene DOID:3308 embryonal carcinoma ISO RGD:1348754 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:14696091|REF_RGD_ID:2293346 8802225 Ccna2 cyclin A2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 8802225 Ccna2 cyclin A2 gene DOID:5844 myocardial infarction ISO RGD:621059 D RGD:9068941 20200609 RGD protein:increased expression:cardiomyocyte: PMID:23634243|REF_RGD_ID:10054471 8802225 Ccna2 cyclin A2 gene DOID:6000 congestive heart failure ISO RGD:1550849 D RGD:9068941 20200609 RGD PMID:16820573|REF_RGD_ID:2293348 8802225 Ccna2 cyclin A2 gene DOID:630 genetic disease ISO RGD:1348754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802225 Ccna2 cyclin A2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348754 D RGD:9068941 20200609 RGD associated with Seminoma;protein:increased expression:testis PMID:14696091|REF_RGD_ID:2293346 8802225 Ccna2 cyclin A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8802225 Ccna2 cyclin A2 gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:1550849 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16452231|REF_RGD_ID:2293344 8802225 Ccna2 cyclin A2 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1348754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8802225 Ccna2 cyclin A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8802225 Ccna2 cyclin A2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1550849 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:10713672|REF_RGD_ID:2293347 8802225 Ccna2 cyclin A2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621059 D RGD:9068941 20200609 RGD PMID:20031167|REF_RGD_ID:2316310 8802225 Ccna2 cyclin A2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621059 D RGD:9068941 20200609 RGD mRNA:increased expression:artery: PMID:18667424|REF_RGD_ID:10054494 8802225 Ccna2 cyclin A2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1550849 D RGD:9068941 20200609 RGD PMID:17382628|REF_RGD_ID:10054468 8802237 Dnai4 dynein axonemal intermediate chain 4 gene DOID:1059 intellectual disability ISO RGD:1605635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8802237 Dnai4 dynein axonemal intermediate chain 4 gene DOID:630 genetic disease ISO RGD:1605635 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802265 Krt25 keratin 25 gene DOID:0110705 hypotrichosis 8 ISO RGD:1353851 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3 PMID:24824130|PMID:26160856 8802265 Krt25 keratin 25 gene DOID:0111574 autosomal recessive woolly hair 3 ISO RGD:1353851 D RGD:7240710 20190315 OMIM 8802265 Krt25 keratin 25 gene DOID:0111574 autosomal recessive woolly hair 3 ISO RGD:1353851 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 3 PMID:24824130|PMID:26160856|PMID:26902920 8802265 Krt25 keratin 25 gene DOID:630 genetic disease ISO RGD:1353851 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8802265 Krt25 keratin 25 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:1353851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8802277 Tmem200b transmembrane protein 200B gene DOID:630 genetic disease ISO RGD:1606080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802281 Elf2 E74 like ETS transcription factor 2 gene DOID:630 genetic disease ISO RGD:1321579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802281 Elf2 E74 like ETS transcription factor 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8802281 Elf2 E74 like ETS transcription factor 2 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1321579 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome PMID:29628936 8802316 Dipk1a divergent protein kinase domain 1A gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:1603475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522 8802316 Dipk1a divergent protein kinase domain 1A gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:1603475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:25741868|PMID:28492532 8802316 Dipk1a divergent protein kinase domain 1A gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1603475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 8802316 Dipk1a divergent protein kinase domain 1A gene DOID:12449 aplastic anemia ISO RGD:1603475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868 8802316 Dipk1a divergent protein kinase domain 1A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603475 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:22689679|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:27432187|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522|PMID:9536098 8802316 Dipk1a divergent protein kinase domain 1A gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603475 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:25741868|PMID:28492532 8802316 Dipk1a divergent protein kinase domain 1A gene DOID:630 genetic disease ISO RGD:1603475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802328 Cldn11 claudin 11 gene DOID:0070402 hypomyelinating leukodystrophy 22 ISO RGD:732844 D RGD:7240710 20210526 OMIM 8802328 Cldn11 claudin 11 gene DOID:0070402 hypomyelinating leukodystrophy 22 ISO RGD:732844 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 22 PMID:25741868|PMID:33313762 8802328 Cldn11 claudin 11 gene DOID:1062 Fanconi syndrome ISO RGD:732844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8802328 Cldn11 claudin 11 gene DOID:2377 multiple sclerosis ISO RGD:732844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25911099 8802328 Cldn11 claudin 11 gene DOID:630 genetic disease ISO RGD:732844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802328 Cldn11 claudin 11 gene DOID:9006205 Animal Disease Models ISO RGD:732844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25911099 8802328 Cldn11 claudin 11 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8802335 Padi3 peptidyl arginine deiminase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732756 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8802335 Padi3 peptidyl arginine deiminase 3 gene DOID:630 genetic disease ISO RGD:732756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802335 Padi3 peptidyl arginine deiminase 3 gene DOID:9000619 Uncombable Hair Syndrome 1 ISO RGD:732756 D RGD:7240710 20220601 OMIM 8802335 Padi3 peptidyl arginine deiminase 3 gene DOID:9000619 Uncombable Hair Syndrome 1 ISO RGD:732756 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Uncombable hair syndrome 1 PMID:22381266|PMID:24629392|PMID:25741868|PMID:27866708|PMID:35279260 8802335 Padi3 peptidyl arginine deiminase 3 gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:732756 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism 8802335 Padi3 peptidyl arginine deiminase 3 gene DOID:9007442 Central Centrifugal Cicatricial Alopecia ISO RGD:732756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia PMID:30763140 8802364 Pnliprp2 pancreatic lipase related protein 2 gene DOID:630 genetic disease ISO RGD:733600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802380 Abi3bp ABI family member 3 binding protein gene DOID:289 endometriosis ISO RGD:1349467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8802380 Abi3bp ABI family member 3 binding protein gene DOID:630 genetic disease ISO RGD:1349467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802460 Osgep O-sialoglycoprotein endopeptidase gene DOID:0080245 Galloway-Mowat syndrome 3 ISO RGD:1318432 D RGD:7240710 20190315 OMIM 8802460 Osgep O-sialoglycoprotein endopeptidase gene DOID:0080245 Galloway-Mowat syndrome 3 ISO RGD:1318432 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 PMID:11519896|PMID:15966048|PMID:17897280|PMID:18019379|PMID:21791310|PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:29127259|PMID:30141175|PMID:31564459|PMID:33333793|PMID:33532864|PMID:36856752 8802460 Osgep O-sialoglycoprotein endopeptidase gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1318432 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome PMID:17897280|PMID:25741868|PMID:28272532|PMID:28805828 8802460 Osgep O-sialoglycoprotein endopeptidase gene DOID:1184 nephrotic syndrome ISO RGD:1318432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:11519896|PMID:15966048|PMID:18019379|PMID:21791310|PMID:25741868|PMID:28492532|PMID:28805828|PMID:29127259|PMID:31564459|PMID:33333793 8802460 Osgep O-sialoglycoprotein endopeptidase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1318432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8802460 Osgep O-sialoglycoprotein endopeptidase gene DOID:630 genetic disease ISO RGD:1318432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175 8802475 Dnal4 dynein axonemal light chain 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1319248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8802475 Dnal4 dynein axonemal light chain 4 gene DOID:630 genetic disease ISO RGD:1319248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802475 Dnal4 dynein axonemal light chain 4 gene DOID:9008815 Mirror Movements 3 ISO RGD:1319248 D RGD:7240710 20180130 OMIM 8802475 Dnal4 dynein axonemal light chain 4 gene DOID:9008815 Mirror Movements 3 ISO RGD:1319248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 3 PMID:25098561 8802492 Msx1 msh homeobox 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14630905 8802492 Msx1 msh homeobox 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 8802492 Msx1 msh homeobox 1 gene DOID:0050567 orofacial cleft ISO RGD:731563 D RGD:9068941 20220825 MouseDO OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 8802492 Msx1 msh homeobox 1 gene DOID:0050591 tooth agenesis ISO RGD:731562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:24914010 8802492 Msx1 msh homeobox 1 gene DOID:0080399 orofacial cleft 5 ISO RGD:731562 D RGD:7240710 20180130 OMIM 8802492 Msx1 msh homeobox 1 gene DOID:0080399 orofacial cleft 5 ISO RGD:731562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 5 PMID:12807959|PMID:15354328|PMID:16327884|PMID:16868654|PMID:21448236|PMID:25741868|PMID:28492532 8802492 Msx1 msh homeobox 1 gene DOID:11383 cryptorchidism ISO RGD:620929 D RGD:9068941 20200609 RGD PMID:18222913|REF_RGD_ID:5132606 8802492 Msx1 msh homeobox 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:731562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8802492 Msx1 msh homeobox 1 gene DOID:13714 anodontia ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8802492 Msx1 msh homeobox 1 gene DOID:13714 anodontia ISO RGD:731562 D RGD:9068941 20200609 RGD autosomal dominant hypodontia, HYD1, OMIM:106600 PMID:8696335|REF_RGD_ID:1600484 8802492 Msx1 msh homeobox 1 gene DOID:630 genetic disease ISO RGD:731562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802492 Msx1 msh homeobox 1 gene DOID:6678 tooth and nail syndrome ISO RGD:731562 D RGD:7240710 20180130 OMIM 8802492 Msx1 msh homeobox 1 gene DOID:6678 tooth and nail syndrome ISO RGD:731562 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dysplasia of nails with hypodontia | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:11369996|PMID:12807959|PMID:14630905|PMID:15354328|PMID:16327884|PMID:16868654|PMID:21448236|PMID:23991204|PMID:25741868|PMID:25874811|PMID:26030286|PMID:27917906|PMID:28166811|PMID:28492532|PMID:30192788|PMID:9484139|PMID:9742121 8802492 Msx1 msh homeobox 1 gene DOID:674 cleft palate ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12163415|PMID:12701100|PMID:15301380 8802492 Msx1 msh homeobox 1 gene DOID:674 cleft palate ISO RGD:731562 D RGD:9068941 20200609 RGD DNA:mutations, SNPs:multiple (human) PMID:12807959|REF_RGD_ID:5132609 8802492 Msx1 msh homeobox 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8802492 Msx1 msh homeobox 1 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:731562 D RGD:7240710 20190315 OMIM 8802492 Msx1 msh homeobox 1 gene DOID:9005151 Selective Tooth Agenesis 1 ISO RGD:731562 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 1 PMID:10742093|PMID:12097313|PMID:15264286|PMID:16498076|PMID:24914010|PMID:25741868|PMID:28492532|PMID:8696335|PMID:9742121 8802492 Msx1 msh homeobox 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731562 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532|PMID:31837199 8802492 Msx1 msh homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12163415|PMID:14630905|PMID:14654219|PMID:15301380 8802492 Msx1 msh homeobox 1 gene DOID:9008763 Femoral Fractures ISO RGD:620929 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:bone, osteoblast, chondrocyte PMID:16451220|REF_RGD_ID:5132608 8802492 Msx1 msh homeobox 1 gene DOID:9009007 Tooth Abnormalities ISO RGD:731562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14630905 8802492 Msx1 msh homeobox 1 gene DOID:9296 cleft lip ISO RGD:731562 D RGD:9068941 20200609 RGD DNA:mutations, SNPs:multiple (human) PMID:12807959|REF_RGD_ID:5132609 8802499 Prr35 proline rich 35 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602296 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8802499 Prr35 proline rich 35 gene DOID:1826 epilepsy ISO RGD:1602296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 8802499 Prr35 proline rich 35 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8802499 Prr35 proline rich 35 gene DOID:630 genetic disease ISO RGD:1602296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802510 Arl11 ADP ribosylation factor like GTPase 11 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1317649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8802510 Arl11 ADP ribosylation factor like GTPase 11 gene DOID:1059 intellectual disability ISO RGD:1317649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8802510 Arl11 ADP ribosylation factor like GTPase 11 gene DOID:630 genetic disease ISO RGD:1317649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802510 Arl11 ADP ribosylation factor like GTPase 11 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8802510 Arl11 ADP ribosylation factor like GTPase 11 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1317649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17079447 8802521 Ppp2r2a protein phosphatase 2 regulatory subunit Balpha gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733714 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8802521 Ppp2r2a protein phosphatase 2 regulatory subunit Balpha gene DOID:630 genetic disease ISO RGD:733714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802521 Ppp2r2a protein phosphatase 2 regulatory subunit Balpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:733714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8802521 Ppp2r2a protein phosphatase 2 regulatory subunit Balpha gene DOID:9002884 Emphysema ISO RGD:733714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 8802521 Ppp2r2a protein phosphatase 2 regulatory subunit Balpha gene DOID:9003882 Chromosomal Instability ISO RGD:733714 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25772433 8802521 Ppp2r2a protein phosphatase 2 regulatory subunit Balpha gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:733714 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25772433 8802541 Lgmn legumain gene DOID:0080054 achondrogenesis type IA ISO RGD:731860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8802541 Lgmn legumain gene DOID:630 genetic disease ISO RGD:731860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802541 Lgmn legumain gene DOID:75 lymphatic system disease ISO RGD:1552555 D RGD:9068941 20220825 MouseDO 8802541 Lgmn legumain gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:731860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22916010 8802541 Lgmn legumain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8802541 Lgmn legumain gene DOID:9002189 High Myopia ISO RGD:731860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8802559 Egfl6 EGF like domain multiple 6 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1354247 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex PMID:25741868 8802559 Egfl6 EGF like domain multiple 6 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1354247 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 8802559 Egfl6 EGF like domain multiple 6 gene DOID:12849 autistic disorder ISO RGD:1354247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8802559 Egfl6 EGF like domain multiple 6 gene DOID:630 genetic disease ISO RGD:1354247 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8802559 Egfl6 EGF like domain multiple 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8802581 Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1604290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8802581 Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 8802581 Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:1059 intellectual disability ISO RGD:1604290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8802581 Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1604290 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8802597 LOC102029370 cytochrome P450 20A1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1606532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8802597 LOC102029370 cytochrome P450 20A1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1606532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8802597 LOC102029370 cytochrome P450 20A1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1606532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8802597 LOC102029370 cytochrome P450 20A1 gene DOID:630 genetic disease ISO RGD:1606532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802597 LOC102029370 cytochrome P450 20A1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1606532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8802597 LOC102029370 cytochrome P450 20A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8802597 LOC102029370 cytochrome P450 20A1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1606532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8802597 LOC102029370 cytochrome P450 20A1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1606532 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8802619 Tmed3 transmembrane p24 trafficking protein 3 gene DOID:2717 Bloom syndrome ISO RGD:1347293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8802619 Tmed3 transmembrane p24 trafficking protein 3 gene DOID:630 genetic disease ISO RGD:1347293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802619 Tmed3 transmembrane p24 trafficking protein 3 gene DOID:9256 colorectal cancer ISO RGD:1347293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8802628 Bpifb4 BPI fold containing family B member 4 gene DOID:630 genetic disease ISO RGD:1344811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802648 Baz2b bromodomain adjacent to zinc finger domain 2B gene DOID:12849 autistic disorder ISO RGD:1320334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 8802648 Baz2b bromodomain adjacent to zinc finger domain 2B gene DOID:630 genetic disease ISO RGD:1320334 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8802648 Baz2b bromodomain adjacent to zinc finger domain 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320334 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31999386 8802709 Gan gigaxonin gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1317147 D RGD:7240710 20180221 OMIM 8802709 Gan gigaxonin gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1317147 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:11053687|PMID:11062483|PMID:11971098|PMID:12655563|PMID:12668605|PMID:14718689|PMID:15897506|PMID:16199547|PMID:17331252|PMID:17576681|PMID:17578852|PMID:17587580|PMID:19231187|PMID:19295179|PMID:20949505|PMID:21356581|PMID:2153943|PMID:23248352|PMID:23316953|PMID:23332420|PMID:23585478|PMID:23890932|PMID:24464710|PMID:24627108|PMID:24758703|PMID:25025039|PMID:25040701|PMID:25326635|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29876741|PMID:30373780|PMID:30532362|PMID:31655922|PMID:32999401|PMID:9536098 8802709 Gan gigaxonin gene DOID:1059 intellectual disability ISO RGD:1317147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8802709 Gan gigaxonin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317147 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532 8802709 Gan gigaxonin gene DOID:574 peripheral nervous system disease ISO RGD:1317147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:24758703|PMID:25741868|PMID:28492532 8802709 Gan gigaxonin gene DOID:630 genetic disease ISO RGD:1317147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11062483|PMID:12655563|PMID:12668605|PMID:14718689|PMID:16199547|PMID:17331252|PMID:17576681|PMID:17578852|PMID:20949505|PMID:23248352|PMID:23332420|PMID:23585478|PMID:23890932|PMID:24758703|PMID:25025039|PMID:25741868|PMID:26392352|PMID:28492532|PMID:32999401|PMID:9536098 8802709 Gan gigaxonin gene DOID:870 neuropathy ISO RGD:1317147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:24758703|PMID:25741868|PMID:28492532 8802709 Gan gigaxonin gene DOID:9000462 Giant Axonal Neuropathy ISO RGD:1317147 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy PMID:14718689|PMID:16565160|PMID:17578852|PMID:28492532 8802709 Gan gigaxonin gene DOID:9005603 Muscle Hypotonia ISO RGD:1317147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 8802733 Fmnl3 formin like 3 gene DOID:630 genetic disease ISO RGD:1606996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802773 Znf215 zinc finger protein 215 gene DOID:630 genetic disease ISO RGD:1344334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802796 LOC102006450 cytochrome c oxidase assembly factor 5 gene DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ISO RGD:1604134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8802796 LOC102006450 cytochrome c oxidase assembly factor 5 gene DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 ISO RGD:1604134 D RGD:7240710 20180130 OMIM 8802796 LOC102006450 cytochrome c oxidase assembly factor 5 gene DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 ISO RGD:1604134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 PMID:21457908 8802796 LOC102006450 cytochrome c oxidase assembly factor 5 gene DOID:630 genetic disease ISO RGD:1604134 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8802828 Habp2 hyaluronan binding protein 2 gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1350340 D RGD:7240710 20240320 OMIM 8802828 Habp2 hyaluronan binding protein 2 gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1350340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:25741868|PMID:28492532 8802828 Habp2 hyaluronan binding protein 2 gene DOID:2452 thrombophilia ISO RGD:1350340 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8802828 Habp2 hyaluronan binding protein 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1302979 D RGD:9068941 20200609 RGD PMID:20818495|REF_RGD_ID:11353855 8802828 Habp2 hyaluronan binding protein 2 gene DOID:630 genetic disease ISO RGD:1350340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802828 Habp2 hyaluronan binding protein 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1302979 D RGD:9068941 20200609 RGD associated with Thyroid Neoplasms PMID:22715430|REF_RGD_ID:11353856 8802828 Habp2 hyaluronan binding protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8802828 Habp2 hyaluronan binding protein 2 gene DOID:9003505 Venous Thromboembolism ISO RGD:1350340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to PMID:12138371|PMID:12578864|PMID:15486068|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005 8802828 Habp2 hyaluronan binding protein 2 gene DOID:9003505 Venous Thromboembolism disease_progression ISO RGD:1350340 D RGD:9068941 20200609 RGD DNA:SNP: :p.G534E (rs7080536) (human) PMID:22421107|REF_RGD_ID:11353820 8802828 Habp2 hyaluronan binding protein 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1350340 D RGD:9068941 20200609 RGD DNA:SNP: :p.G534E (rs7080536) (human) PMID:22421107|REF_RGD_ID:11353820 8802828 Habp2 hyaluronan binding protein 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1302979 D RGD:9068941 20200609 RGD PMID:22715430|REF_RGD_ID:11353856 8802828 Habp2 hyaluronan binding protein 2 gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1350340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia PMID:12138371|PMID:12578864|PMID:15486068|PMID:25741868|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005|PMID:28492532 8802828 Habp2 hyaluronan binding protein 2 gene DOID:9007597 Thyroid Cancer, Nonmedullary, 5 ISO RGD:1350340 D RGD:7240710 20240320 OMIM 8802828 Habp2 hyaluronan binding protein 2 gene DOID:9007597 Thyroid Cancer, Nonmedullary, 5 ISO RGD:1350340 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 5 PMID:12138371|PMID:12578864|PMID:15486068|PMID:25741868|PMID:26222560|PMID:26581001|PMID:26581002|PMID:26581003|PMID:26581004|PMID:26581005 8802845 Abcc10 ATP binding cassette subfamily C member 10 gene DOID:0050444 infantile Refsum disease ISO RGD:1315462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8802845 Abcc10 ATP binding cassette subfamily C member 10 gene DOID:630 genetic disease ISO RGD:1315462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802845 Abcc10 ATP binding cassette subfamily C member 10 gene DOID:9002801 Recurrence ISO RGD:1315462 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 8802845 Abcc10 ATP binding cassette subfamily C member 10 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1315462 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 8802845 Abcc10 ATP binding cassette subfamily C member 10 gene DOID:905 Zellweger syndrome ISO RGD:1315462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8802871 Rpl39 ribosomal protein L39 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8802871 Rpl39 ribosomal protein L39 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:735612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8802871 Rpl39 ribosomal protein L39 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:735612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8802871 Rpl39 ribosomal protein L39 gene DOID:12849 autistic disorder ISO RGD:735612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8802871 Rpl39 ribosomal protein L39 gene DOID:630 genetic disease ISO RGD:735612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802879 Mmp15 matrix metallopeptidase 15 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8802879 Mmp15 matrix metallopeptidase 15 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8802879 Mmp15 matrix metallopeptidase 15 gene DOID:10283 prostate cancer disease_progression ISO RGD:1318995 D RGD:9068941 20200609 RGD PMID:15928670|REF_RGD_ID:2290417 8802879 Mmp15 matrix metallopeptidase 15 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8802879 Mmp15 matrix metallopeptidase 15 gene DOID:2671 transitional cell carcinoma ISO RGD:1318995 D RGD:9068941 20200609 RGD PMID:9751409|REF_RGD_ID:2314950 8802879 Mmp15 matrix metallopeptidase 15 gene DOID:630 genetic disease ISO RGD:1318995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802879 Mmp15 matrix metallopeptidase 15 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318995 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8802879 Mmp15 matrix metallopeptidase 15 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1308937 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19595018|REF_RGD_ID:2314952 8802879 Mmp15 matrix metallopeptidase 15 gene DOID:9003281 Spontaneous Abortions ISO RGD:1318995 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8802879 Mmp15 matrix metallopeptidase 15 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1318996 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:15895410|REF_RGD_ID:2314949 8802893 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8802893 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1321693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 8802893 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1321693 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8802893 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1321694 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 8802893 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1321693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 8802893 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0080600 COVID-19 ISO RGD:1321693 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8802893 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1321693 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532 8802893 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8802893 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1321693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8802893 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:630 genetic disease ISO RGD:1321693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802893 Ppdpf pancreatic progenitor cell differentiation and proliferation factor gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1321693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8802901 Lin9 lin-9 DREAM MuvB core complex component gene DOID:1540 parathyroid carcinoma ISO RGD:1348970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8802901 Lin9 lin-9 DREAM MuvB core complex component gene DOID:630 genetic disease ISO RGD:1348970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802901 Lin9 lin-9 DREAM MuvB core complex component gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8802924 Hnrnpul1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8802924 Hnrnpul1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8802924 Hnrnpul1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:2340 craniosynostosis ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8802924 Hnrnpul1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:630 genetic disease ISO RGD:1316659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802924 Hnrnpul1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8802924 Hnrnpul1 heterogeneous nuclear ribonucleoprotein U like 1 gene DOID:9269 maple syrup urine disease ISO RGD:1316659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8802969 Fam210b family with sequence similarity 210 member B gene DOID:630 genetic disease ISO RGD:1322807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8802981 Gm2a GM2 ganglioside activator gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8802981 Gm2a GM2 ganglioside activator gene DOID:1289 neurodegenerative disease ISO RGD:1353976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy PMID:25558065|PMID:26203402|PMID:28417072|PMID:28492532|PMID:33456446 8802981 Gm2a GM2 ganglioside activator gene DOID:3320 Tay-Sachs disease ISO RGD:1353976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease 8802981 Gm2a GM2 ganglioside activator gene DOID:3321 GM2 gangliosidosis ISO RGD:1353976 D RGD:9068941 20200609 RGD Tay-Sachs Disease, AB Variant PMID:10364519|REF_RGD_ID:1598993 8802981 Gm2a GM2 ganglioside activator gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1353976 D RGD:7240710 20180130 OMIM 8802981 Gm2a GM2 ganglioside activator gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1353976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:10364519|PMID:1570834|PMID:174379|PMID:17576681|PMID:1915858|PMID:24767253|PMID:25558065|PMID:25741868|PMID:26082327|PMID:26203402|PMID:28417072|PMID:28492532|PMID:33456446|PMID:8244332|PMID:8900233|PMID:9536098 8802981 Gm2a GM2 ganglioside activator gene DOID:630 genetic disease ISO RGD:1353976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8802981 Gm2a GM2 ganglioside activator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353976 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8802989 Bap1 BRCA1 associated protein 1 gene DOID:0050773 paraganglioma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:0050902 medulloblastoma ISO RGD:1323652 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:24970262|PMID:25741868|PMID:26719535|PMID:28492532|PMID:29641532|PMID:32068069 8802989 Bap1 BRCA1 associated protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1323653 D RGD:9068941 20220825 MouseDO OMIM:614286 8802989 Bap1 BRCA1 associated protein 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323652 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:21642991|PMID:24894717|PMID:26166446|PMID:26452128|PMID:28492532 8802989 Bap1 BRCA1 associated protein 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1323652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8802989 Bap1 BRCA1 associated protein 1 gene DOID:0081341 congenital myopathy 5 ISO RGD:1323652 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY PMID:25741868|PMID:25787093|PMID:28062663|PMID:28492532 8802989 Bap1 BRCA1 associated protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:1240 leukemia ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:169 neuroendocrine tumor ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:1752 ocular melanoma ISO RGD:1323652 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Intraocular melanoma PMID:25741868 8802989 Bap1 BRCA1 associated protein 1 gene DOID:1790 malignant mesothelioma ISO RGD:1323652 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:24928783|PMID:25231345|PMID:26463840|PMID:26928227|PMID:29112861 8802989 Bap1 BRCA1 associated protein 1 gene DOID:1790 malignant mesothelioma ISO RGD:1323653 D RGD:9068941 20200609 RGD PMID:24928783|REF_RGD_ID:9586039 8802989 Bap1 BRCA1 associated protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:2513 basal cell carcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26719535 8802989 Bap1 BRCA1 associated protein 1 gene DOID:2513 basal cell carcinoma ISO RGD:1323652 D RGD:9068941 20200609 RGD PMID:25080371|REF_RGD_ID:9586038 8802989 Bap1 BRCA1 associated protein 1 gene DOID:3070 high grade glioma ISO RGD:1323652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 8802989 Bap1 BRCA1 associated protein 1 gene DOID:3275 thymoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 8802989 Bap1 BRCA1 associated protein 1 gene DOID:3315 lipoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1323652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8802989 Bap1 BRCA1 associated protein 1 gene DOID:3495 extrahepatic bile duct adenocarcinoma disease_progression ISO RGD:1323652 D RGD:9068941 20210827 RGD PMID:25536104|REF_RGD_ID:150340631 8802989 Bap1 BRCA1 associated protein 1 gene DOID:3565 meningioma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:22683710|PMID:23797736|PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1323652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25741868|PMID:28492532|PMID:35483881|PMID:35992853 8802989 Bap1 BRCA1 associated protein 1 gene DOID:4531 mucoepidermoid carcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1323652 D RGD:9068941 20210827 RGD PMID:27864835|REF_RGD_ID:150340628 8802989 Bap1 BRCA1 associated protein 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509|PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:5078 ganglioglioma ISO RGD:1323652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ganglioglioma PMID:25741868|PMID:28492532 8802989 Bap1 BRCA1 associated protein 1 gene DOID:6039 uveal melanoma ISO RGD:1323652 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma PMID:16341802|PMID:19197335|PMID:21874000|PMID:23032617|PMID:23684012|PMID:24243779|PMID:24728327|PMID:25231345|PMID:25687217|PMID:25741868|PMID:25974357|PMID:26467025|PMID:26556299|PMID:26683624|PMID:26719535|PMID:28062663|PMID:28492532|PMID:28551647|PMID:28793149|PMID:30477459|PMID:30883995|PMID:31034483|PMID:31186267|PMID:32002398 8802989 Bap1 BRCA1 associated protein 1 gene DOID:6039 uveal melanoma disease_progression ISO RGD:1323652 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression: : PMID:25147369|REF_RGD_ID:9586037 8802989 Bap1 BRCA1 associated protein 1 gene DOID:6039 uveal melanoma susceptibility ISO RGD:1323652 D RGD:7240710 20240306 OMIM 8802989 Bap1 BRCA1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1323652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8802989 Bap1 BRCA1 associated protein 1 gene DOID:6846 familial melanoma ISO RGD:1323652 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:21874000|PMID:23684012|PMID:25741868|PMID:28492532 8802989 Bap1 BRCA1 associated protein 1 gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1323652 D RGD:9068941 20210604 RGD PMID:27422796|REF_RGD_ID:127229946 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345|PMID:26719535 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24928783 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9001326 Nevus, Epithelioid and Spindle Cell ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9001329 Tumor Predisposition Syndrome ISO RGD:1323652 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tumor predisposition syndrome PMID:21874000|PMID:23684012|PMID:25741868|PMID:28492532|PMID:29625052|PMID:33240524 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1323652 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BAP1 tumor predisposition syndrome | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations PMID:1189319|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23550303|PMID:23585512|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24187051|PMID:24243779|PMID:24728327|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25830670|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27507853|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28213671|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29122566|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29478780|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:29978187|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31409087|PMID:31432501|PMID:31465090|PMID:31761620|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:35032816|PMID:35051358|PMID:35171259|PMID:35441217|PMID:35483881|PMID:35849291|PMID:35885614|PMID:35992853|PMID:36031433|PMID:36653904|PMID:9536098 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9002089 Tumor Predisposition Syndrome 1 susceptibility ISO RGD:1323652 D RGD:7240710 20240306 OMIM 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26719535 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9003566 Mesothelioma ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21642991|PMID:21874000|PMID:26119930|PMID:26719535 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9004389 Bone Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28213671|PMID:28492532|PMID:35051358 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9004799 KURY-ISIDOR SYNDROME ISO RGD:1323652 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Kury-Isidor syndrome PMID:16341802|PMID:19197335|PMID:21874000|PMID:23684012|PMID:24970262|PMID:25741868|PMID:25974357|PMID:26467025|PMID:26683624|PMID:26719535|PMID:28492532|PMID:28551647|PMID:29625052|PMID:29641532|PMID:29758562|PMID:31034483|PMID:32068069|PMID:33240524|PMID:35051358 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9004799 KURY-ISIDOR SYNDROME susceptibility ISO RGD:1323652 D RGD:7240710 20240306 OMIM 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26719535 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9005825 Nevi and Melanomas ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874003 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:27123562|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29212164|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30258054|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31382694|PMID:31382929|PMID:32068069|PMID:32649346|PMID:9536098 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22935333|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25889843|PMID:25929848|PMID:25974357|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:27123562|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29212164|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30258054|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31382694|PMID:31382929|PMID:32002398|PMID:32068069|PMID:32649346|PMID:9536098 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:18757409|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:9536098 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:9536098 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29368341|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:35483881|PMID:35992853|PMID:9536098 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28793149|PMID:28900502|PMID:29061454|PMID:29212164|PMID:29368341|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:35051358|PMID:35483881|PMID:35992853|PMID:9536098 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323652 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1189319|PMID:16199547|PMID:16341802|PMID:17576681|PMID:18757409|PMID:19197335|PMID:21642991|PMID:21874000|PMID:21874003|PMID:21941004|PMID:22545102|PMID:22683710|PMID:22889334|PMID:22935333|PMID:23032617|PMID:23171164|PMID:23341325|PMID:23684012|PMID:23709298|PMID:23849051|PMID:23977234|PMID:24166983|PMID:24243779|PMID:24728327|PMID:24894717|PMID:24970262|PMID:25225168|PMID:25231345|PMID:25501392|PMID:25687217|PMID:25741868|PMID:25787093|PMID:25790038|PMID:25889843|PMID:25900292|PMID:25929848|PMID:25974357|PMID:26096145|PMID:26140217|PMID:26154183|PMID:26166446|PMID:26409435|PMID:26452128|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26683624|PMID:26689913|PMID:26719535|PMID:26774355|PMID:26845104|PMID:26876698|PMID:26896281|PMID:27123562|PMID:27153395|PMID:27181379|PMID:27718540|PMID:27749792|PMID:28034829|PMID:28062663|PMID:28166811|PMID:28170043|PMID:28380455|PMID:28444874|PMID:28492532|PMID:28551647|PMID:28560743|PMID:28687356|PMID:28717660|PMID:28767289|PMID:28767674|PMID:28793149|PMID:28873162|PMID:28900502|PMID:29061454|PMID:29122566|PMID:29212164|PMID:29368341|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29684080|PMID:29753057|PMID:29754391|PMID:29761599|PMID:30001711|PMID:30039884|PMID:30113886|PMID:30258054|PMID:30306255|PMID:30338612|PMID:30374176|PMID:30414346|PMID:30477459|PMID:30480620|PMID:30517737|PMID:30548481|PMID:30850667|PMID:30883995|PMID:30975761|PMID:30980208|PMID:31034483|PMID:31058963|PMID:31323388|PMID:31382694|PMID:31382929|PMID:31432501|PMID:31465090|PMID:31761620|PMID:31887429|PMID:31921681|PMID:32002398|PMID:32068069|PMID:32325837|PMID:32649346|PMID:33240524|PMID:33600035|PMID:33606809|PMID:33646313|PMID:34426522|PMID:34628055|PMID:35051358|PMID:35171259|PMID:35441217|PMID:35483881|PMID:35849291|PMID:35885614|PMID:35992853|PMID:36031433|PMID:36653904|PMID:9536098 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231345|PMID:26719535 8802989 Bap1 BRCA1 associated protein 1 gene DOID:9538 multiple myeloma ISO RGD:1323652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8803011 Kcnk6 potassium two pore domain channel subfamily K member 6 gene DOID:3454 brain infarction ISO RGD:621450 D RGD:9068941 20230527 RGD mRNA:increased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8803011 Kcnk6 potassium two pore domain channel subfamily K member 6 gene DOID:630 genetic disease ISO RGD:735903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803018 Arhgap23 Rho GTPase activating protein 23 gene DOID:0080600 COVID-19 ISO RGD:1320244 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8803018 Arhgap23 Rho GTPase activating protein 23 gene DOID:11612 polycystic ovary syndrome ISO RGD:1320244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8803018 Arhgap23 Rho GTPase activating protein 23 gene DOID:630 genetic disease ISO RGD:1320244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803046 Phox2a paired like homeobox 2A gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:733682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 8803046 Phox2a paired like homeobox 2A gene DOID:0081016 congenital fibrosis of the extraocular muscles 2 ISO RGD:733682 D RGD:7240710 20180130 OMIM 8803046 Phox2a paired like homeobox 2A gene DOID:0081016 congenital fibrosis of the extraocular muscles 2 ISO RGD:733682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 PMID:11600883|PMID:25741868 8803046 Phox2a paired like homeobox 2A gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:733682 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8803046 Phox2a paired like homeobox 2A gene DOID:1059 intellectual disability ISO RGD:733682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8803046 Phox2a paired like homeobox 2A gene DOID:630 genetic disease ISO RGD:733682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803046 Phox2a paired like homeobox 2A gene DOID:9000784 Fibrosis ISO RGD:733682 D RGD:9068941 20200609 RGD PMID:11600883|REF_RGD_ID:1599902 8803046 Phox2a paired like homeobox 2A gene DOID:9352 type 2 diabetes mellitus ISO RGD:733683 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8803053 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:0070390 developmental and epileptic encephalopathy 104 ISO RGD:1605737 D RGD:7240710 20220810 OMIM 8803053 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:0070390 developmental and epileptic encephalopathy 104 ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 104 PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 8803053 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:10283 prostate cancer ISO RGD:1605737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8803053 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:10485 esophageal atresia ISO RGD:1605737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8803053 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:12849 autistic disorder ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 8803053 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:630 genetic disease ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 8803053 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28135719|PMID:28492532|PMID:33833240|PMID:34909687 8803053 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:9008621 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY ISO RGD:1605737 D RGD:7240710 20221214 OMIM 8803053 Atp6v0a1 ATPase H+ transporting V0 subunit a1 gene DOID:9008621 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY ISO RGD:1605737 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and brain atrophy PMID:15742102|PMID:33833240|PMID:34909687 8803091 Zcchc3 zinc finger CCHC-type containing 3 gene DOID:630 genetic disease ISO RGD:1352502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803091 Zcchc3 zinc finger CCHC-type containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8803107 Cd48 CD48 molecule gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1352782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8803107 Cd48 CD48 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1352782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8803107 Cd48 CD48 molecule gene DOID:630 genetic disease ISO RGD:1352782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803107 Cd48 CD48 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8803107 Cd48 CD48 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8803121 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1353728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8803121 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1353728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8803121 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:4621 holoprosencephaly ISO RGD:1353728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8803121 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:630 genetic disease ISO RGD:1353728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:34703884|PMID:9536098 8803121 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:9009067 Glycosylphosphatidylinositol Biosynthesis Defect 15 ISO RGD:1353728 D RGD:7240710 20190315 OMIM 8803121 Gpaa1 glycosylphosphatidylinositol anchor attachment 1 gene DOID:9009067 Glycosylphosphatidylinositol Biosynthesis Defect 15 ISO RGD:1353728 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GPAA1-related condition | ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 15 PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29100095|PMID:32637629|PMID:34703884|PMID:9536098 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:0080600 COVID-19 ISO RGD:68964 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:10763 hypertension ISO RGD:68936 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:15340004|REF_RGD_ID:1600028 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:68936 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:12944321|REF_RGD_ID:1600034 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:14219 renal tubular acidosis ISO RGD:1332483 D RGD:9068941 20220825 MouseDO OMIM:179830 | OMIM:267200 | OMIM:602722 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:14219 renal tubular acidosis ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:14219 renal tubular acidosis susceptibility ISO RGD:68964 D RGD:9068941 20200609 RGD DNA:point mutations: ; 1043A>C, 1678G>A PMID:10545938|REF_RGD_ID:61794 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:1686 glaucoma ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:68964 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:630 genetic disease ISO RGD:68964 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32730804 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:83 cataract ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:9006205 Animal Disease Models ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:9007464 Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation ISO RGD:68964 D RGD:7240710 20180130 OMIM 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:9007464 Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation ISO RGD:68964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RTA, PROXIMAL, AUTOSOMAL RECESSIVE PMID:10545938|PMID:11274232|PMID:18658147|PMID:20197274|PMID:21234596|PMID:23362273|PMID:25741868|PMID:28492532 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:9008086 Developmental Disabilities ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 8803140 Slc4a4 solute carrier family 4 member 4 gene DOID:9008606 Corneal Opacity ISO RGD:68964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18614622 8803177 Ccdc32 coiled-coil domain containing 32 gene DOID:2717 Bloom syndrome ISO RGD:1605016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8803177 Ccdc32 coiled-coil domain containing 32 gene DOID:9007327 Cardiofacioneurodevelopmental Syndrome ISO RGD:1605016 D RGD:7240710 20201230 OMIM 8803177 Ccdc32 coiled-coil domain containing 32 gene DOID:9007327 Cardiofacioneurodevelopmental Syndrome ISO RGD:1605016 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome PMID:25741868|PMID:32307552|PMID:35451546 8803177 Ccdc32 coiled-coil domain containing 32 gene DOID:9256 colorectal cancer ISO RGD:1605016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8803216 Plcxd1 phosphatidylinositol specific phospholipase C X domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1349595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8803226 Rtbdn retbindin gene DOID:0050990 episodic ataxia type 2 ISO RGD:1606213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8803226 Rtbdn retbindin gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1606213 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8803226 Rtbdn retbindin gene DOID:0111254 glutaric acidemia I ISO RGD:1606213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8803226 Rtbdn retbindin gene DOID:3413 alpha-mannosidosis ISO RGD:1606213 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8803226 Rtbdn retbindin gene DOID:630 genetic disease ISO RGD:1606213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803226 Rtbdn retbindin gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1606213 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 8803226 Rtbdn retbindin gene DOID:9005834 Ependymomas ISO RGD:1606213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 8803236 Itch itchy E3 ubiquitin protein ligase gene DOID:2843 long QT syndrome ISO RGD:1343086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8803236 Itch itchy E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1343086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8803236 Itch itchy E3 ubiquitin protein ligase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:1343086 D RGD:7240710 20180130 OMIM 8803236 Itch itchy E3 ubiquitin protein ligase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:1343086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Autoimmune disease, syndromic multisystem PMID:16199547|PMID:17576681|PMID:20170897|PMID:25741868|PMID:28492532|PMID:31091003|PMID:9536098 8803265 Ssb small RNA binding exonuclease protection factor La gene DOID:0080600 COVID-19 ISO RGD:1348902 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8803265 Ssb small RNA binding exonuclease protection factor La gene DOID:630 genetic disease ISO RGD:1348902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803293 Adcy3 adenylate cyclase 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:732499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 8803293 Adcy3 adenylate cyclase 3 gene DOID:11713 diabetic angiopathy ISO RGD:732499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 8803293 Adcy3 adenylate cyclase 3 gene DOID:11981 morbid obesity ISO RGD:732499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29311637 8803293 Adcy3 adenylate cyclase 3 gene DOID:1470 major depressive disorder ISO RGD:732500 D RGD:9068941 20220825 MouseDO OMIM:608520 | OMIM:608691 8803293 Adcy3 adenylate cyclase 3 gene DOID:630 genetic disease ISO RGD:732499 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8803293 Adcy3 adenylate cyclase 3 gene DOID:9970 obesity ISO RGD:732499 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: ADCY3-related condition PMID:25741868|PMID:28492532 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:0080471 developmental and epileptic encephalopathy 92 ISO RGD:735355 D RGD:7240710 20190315 OMIM 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:0080471 developmental and epileptic encephalopathy 92 ISO RGD:735355 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 2 PMID:25124326|PMID:25741868|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:30033060|PMID:32533790|PMID:33325057 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:10283 prostate cancer ISO RGD:735355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868|PMID:28492532 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:12140781|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31036916|PMID:31785789|PMID:9536098 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12140781|PMID:17576681|PMID:23265383|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057|PMID:9536098 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1059 intellectual disability ISO RGD:735355 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: intellectual disabilities PMID:12140781|PMID:17576681|PMID:23265383|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057|PMID:9536098 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:12849 autistic disorder ISO RGD:735355 D RGD:9068941 20200609 RGD DNA:SNP: :RS2617503, RS12187676 (human) PMID:16080114|REF_RGD_ID:6480256 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:13938 amenorrhea ISO RGD:735355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1826 epilepsy ISO RGD:735355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:735355 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16718694|PMID:22190369|PMID:24811917|PMID:28492532 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:5419 schizophrenia ISO RGD:735355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:630 genetic disease ISO RGD:735355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8803324 Gabrb2 gamma-aminobutyric acid type A receptor subunit beta2 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:735355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 8803342 Il5 interleukin 5 gene DOID:0050256 angiostrongyliasis ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:8361777|REF_RGD_ID:11354948 8803342 Il5 interleukin 5 gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16425276|REF_RGD_ID:11354942 8803342 Il5 interleukin 5 gene DOID:0050589 inflammatory bowel disease susceptibility ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:22018693|REF_RGD_ID:5687148 8803342 Il5 interleukin 5 gene DOID:0060180 colitis ISO RGD:10799 D RGD:9068941 20200609 RGD protein: increased expression PMID:22018693|REF_RGD_ID:5687148 8803342 Il5 interleukin 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:730927 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8803342 Il5 interleukin 5 gene DOID:0080599 Coronavirus infectious disease ISO RGD:10799 D RGD:9068941 20200618 RGD PMID:19906920|REF_RGD_ID:4891446 8803342 Il5 interleukin 5 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:15368290|REF_RGD_ID:7241068 8803342 Il5 interleukin 5 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21911837|REF_RGD_ID:11354912 8803342 Il5 interleukin 5 gene DOID:10534 stomach cancer susceptibility ISO RGD:730927 D RGD:9068941 20220204 RGD DNA:SNP::745 C>T (rs2069812)(human) PMID:18687755|REF_RGD_ID:151347690 8803342 Il5 interleukin 5 gene DOID:10923 sickle cell anemia ISO RGD:10799 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:25843670|REF_RGD_ID:11354938 8803342 Il5 interleukin 5 gene DOID:10955 strongyloidiasis severity ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:9824515|REF_RGD_ID:11354934 8803342 Il5 interleukin 5 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16787590|REF_RGD_ID:11354946 8803342 Il5 interleukin 5 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:20945403|REF_RGD_ID:5684375 8803342 Il5 interleukin 5 gene DOID:1184 nephrotic syndrome ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22665336|REF_RGD_ID:7240715 8803342 Il5 interleukin 5 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:25410867|REF_RGD_ID:11354937 8803342 Il5 interleukin 5 gene DOID:12849 autistic disorder ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 8803342 Il5 interleukin 5 gene DOID:13922 eosinophilic esophagitis ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:23161496|REF_RGD_ID:11354947 8803342 Il5 interleukin 5 gene DOID:1394 urinary schistosomiasis resistance ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:9697734|REF_RGD_ID:7241010 8803342 Il5 interleukin 5 gene DOID:13976 peptic esophagitis ISO RGD:2900 D RGD:9068941 20200609 RGD associated with asthma; mRNA:increased expression:esophagus PMID:18222984|REF_RGD_ID:2307110 8803342 Il5 interleukin 5 gene DOID:1470 major depressive disorder ISO RGD:730927 D RGD:9068941 20200609 RGD protein: increased expression: serum PMID:22230487|REF_RGD_ID:5687135 8803342 Il5 interleukin 5 gene DOID:1496 echinococcosis ISO RGD:10799 D RGD:9068941 20200609 RGD mRNA: increased expression: : peritoneal lavage cells PMID:21912714|REF_RGD_ID:5687176 8803342 Il5 interleukin 5 gene DOID:2048 autoimmune hepatitis ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 8803342 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:11159041|PMID:9182686|REF_RGD_ID:4890963|REF_RGD_ID:5687189 8803342 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:9068941 20200609 RGD protein:increased expression:lungs, respiratory system fluid/secretion PMID:22085848|REF_RGD_ID:5687144 8803342 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:10799 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15626484|REF_RGD_ID:4890947 8803342 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:17074272|PMID:19947994|REF_RGD_ID:4145461|REF_RGD_ID:4890938 8803342 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23266719|PMID:7540862 8803342 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:15502111|REF_RGD_ID:4890948 8803342 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-703C>T (human) PMID:18629290|REF_RGD_ID:4890940 8803342 Il5 interleukin 5 gene DOID:2841 asthma ISO RGD:730927 D RGD:9068941 20200609 RGD protein: increased levels: sputum PMID:22186238|REF_RGD_ID:5687140 8803342 Il5 interleukin 5 gene DOID:2841 asthma disease_progression ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:9493449|REF_RGD_ID:4890962 8803342 Il5 interleukin 5 gene DOID:2841 asthma treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:25008888|REF_RGD_ID:11354973 8803342 Il5 interleukin 5 gene DOID:3042 allergic contact dermatitis ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15347381 8803342 Il5 interleukin 5 gene DOID:3044 food allergy ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22077487|REF_RGD_ID:5687145 8803342 Il5 interleukin 5 gene DOID:3049 Churg-Strauss syndrome severity ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22772323|REF_RGD_ID:6892720 8803342 Il5 interleukin 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20858153|REF_RGD_ID:4890939 8803342 Il5 interleukin 5 gene DOID:3310 atopic dermatitis ISO RGD:730927 D RGD:9068941 20200609 RGD mRNA: increased expression: skin PMID:22299064|REF_RGD_ID:5687175 8803342 Il5 interleukin 5 gene DOID:3310 atopic dermatitis ISO RGD:730927 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:11886533|PMID:18249437|PMID:33274957 8803342 Il5 interleukin 5 gene DOID:3525 middle cerebral artery infarction ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:23028794|REF_RGD_ID:7204480 8803342 Il5 interleukin 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:14975941|REF_RGD_ID:4890954 8803342 Il5 interleukin 5 gene DOID:3770 pulmonary fibrosis ISO RGD:10799 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17986108|REF_RGD_ID:4890942 8803342 Il5 interleukin 5 gene DOID:3770 pulmonary fibrosis ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17620002 8803342 Il5 interleukin 5 gene DOID:4031 eosinophilic gastroenteritis ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:intestine, eosinophil PMID:8608886|REF_RGD_ID:11354940 8803342 Il5 interleukin 5 gene DOID:4481 allergic rhinitis treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:23934070|PMID:24620662|REF_RGD_ID:11354976|REF_RGD_ID:11522769 8803342 Il5 interleukin 5 gene DOID:4483 rhinitis ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:11884474|REF_RGD_ID:5128622 8803342 Il5 interleukin 5 gene DOID:5041 esophageal cancer treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:20232121|REF_RGD_ID:5134997 8803342 Il5 interleukin 5 gene DOID:630 genetic disease ISO RGD:730927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803342 Il5 interleukin 5 gene DOID:7148 rheumatoid arthritis ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22293286|REF_RGD_ID:5687156 8803342 Il5 interleukin 5 gene DOID:8398 osteoarthritis ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22035391|REF_RGD_ID:5687147 8803342 Il5 interleukin 5 gene DOID:841 extrinsic allergic alveolitis ISO RGD:10799 D RGD:9068941 20200609 RGD protein:increased expression:lung,respiratory system fluid/secretion PMID:19151189|REF_RGD_ID:4889106 8803342 Il5 interleukin 5 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:9712797|REF_RGD_ID:4890961 8803342 Il5 interleukin 5 gene DOID:9000772 Bronchial Hyperreactivity treatment ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:10471622|REF_RGD_ID:11354935 8803342 Il5 interleukin 5 gene DOID:9000998 Brain Injuries ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:24602693|REF_RGD_ID:11522766 8803342 Il5 interleukin 5 gene DOID:9000998 Brain Injuries treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:24530657|REF_RGD_ID:11522770 8803342 Il5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:1988543|REF_RGD_ID:11354921 8803342 Il5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:11884473|REF_RGD_ID:625643 8803342 Il5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11006010|PMID:1988543 8803342 Il5 interleukin 5 gene DOID:9001371 Eosinophilia ISO RGD:730927 D RGD:9068941 20200609 RGD associated with Dermatitis, Atopic;DNA:polymorphism:promoter:-703C>T (human) PMID:14581138|REF_RGD_ID:11354913 8803342 Il5 interleukin 5 gene DOID:9001371 Eosinophilia severity ISO RGD:730927 D RGD:9068941 20200609 RGD associated with Lymphoma, T-Cell PMID:18395252|REF_RGD_ID:11354898 8803342 Il5 interleukin 5 gene DOID:9001371 Eosinophilia treatment ISO RGD:10799 D RGD:9068941 20200609 RGD associated with Toxocariasis PMID:1699772|REF_RGD_ID:11354933 8803342 Il5 interleukin 5 gene DOID:9002892 Parasitic Intestinal Diseases ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:15534922|REF_RGD_ID:11354941 8803342 Il5 interleukin 5 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730927 D RGD:9068941 20200609 RGD protein: increased levels: sputum PMID:22186238|REF_RGD_ID:5687140 8803342 Il5 interleukin 5 gene DOID:9004283 Transplant Rejection treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:11267027|REF_RGD_ID:11354977 8803342 Il5 interleukin 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8803342 Il5 interleukin 5 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:22293286|REF_RGD_ID:5687156 8803342 Il5 interleukin 5 gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:2900 D RGD:9068941 20200609 RGD PMID:22310911|REF_RGD_ID:11522768 8803342 Il5 interleukin 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730927 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8803342 Il5 interleukin 5 gene DOID:9007073 Cough treatment ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:9525446|REF_RGD_ID:10449525 8803342 Il5 interleukin 5 gene DOID:9008865 Entamoebiasis ISO RGD:730927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 8803342 Il5 interleukin 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:730927 D RGD:9068941 20200609 RGD PMID:23054011|REF_RGD_ID:7241039 8803342 Il5 interleukin 5 gene DOID:9362 status asthmaticus ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:10934091|REF_RGD_ID:4890960 8803342 Il5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:9712797|REF_RGD_ID:4890961 8803342 Il5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:10799 D RGD:9068941 20200609 RGD associated with respiratory syncytial virus infection PMID:18519743|REF_RGD_ID:4890941 8803342 Il5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:730927 D RGD:9068941 20200609 RGD associated with Pulmonary Fibrosis;protein:increased expression:respiratory system fluid/secretion PMID:17597386|REF_RGD_ID:11354949 8803342 Il5 interleukin 5 gene DOID:9498 pulmonary eosinophilia ISO RGD:730927 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12765419|REF_RGD_ID:4890956 8803342 Il5 interleukin 5 gene DOID:9498 pulmonary eosinophilia treatment ISO RGD:10799 D RGD:9068941 20200609 RGD PMID:10471622|REF_RGD_ID:11354935 8803359 Slc6a19 solute carrier family 6 member 19 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1604954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 8803359 Slc6a19 solute carrier family 6 member 19 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1604954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 8803359 Slc6a19 solute carrier family 6 member 19 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1604954 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8803359 Slc6a19 solute carrier family 6 member 19 gene DOID:0112265 iminoglycinuria ISO RGD:1604954 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Iminoglycinuria PMID:15286787|PMID:15286788|PMID:17555458|PMID:18484095|PMID:19185582|PMID:19472175|PMID:21814048|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28924877 8803359 Slc6a19 solute carrier family 6 member 19 gene DOID:1060 Hartnup disease ISO RGD:1604954 D RGD:7240710 20180130 OMIM 8803359 Slc6a19 solute carrier family 6 member 19 gene DOID:1060 Hartnup disease ISO RGD:1604954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defect PMID:15286787|PMID:15286788|PMID:16199547|PMID:17555458|PMID:18484095|PMID:19033659|PMID:19185582|PMID:19472175|PMID:20399395|PMID:21814048|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28924877 8803359 Slc6a19 solute carrier family 6 member 19 gene DOID:10763 hypertension ISO RGD:1594328 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:17264310|REF_RGD_ID:1600036 8803359 Slc6a19 solute carrier family 6 member 19 gene DOID:630 genetic disease ISO RGD:1604954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8803359 Slc6a19 solute carrier family 6 member 19 gene DOID:9002189 High Myopia ISO RGD:1604954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High myopia PMID:15286788|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8803359 Slc6a19 solute carrier family 6 member 19 gene DOID:9008487 Glycinuria with or without Oxalate Urolithiasis ISO RGD:1604954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II PMID:15286787|PMID:15286788|PMID:16199547|PMID:17555458|PMID:17576681|PMID:18484095|PMID:19033659|PMID:19185582|PMID:19472175|PMID:21814048|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28924877|PMID:30626930|PMID:9536098 8803378 Sipa1l2 signal induced proliferation associated 1 like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1314792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8803378 Sipa1l2 signal induced proliferation associated 1 like 2 gene DOID:630 genetic disease ISO RGD:1314792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803378 Sipa1l2 signal induced proliferation associated 1 like 2 gene DOID:9002189 High Myopia ISO RGD:1314792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8803378 Sipa1l2 signal induced proliferation associated 1 like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8803409 Prlhr prolactin releasing hormone receptor gene DOID:10763 hypertension ISO RGD:732732 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:-62G>A, 914C>T (p.P305L) (human) PMID:14691196|REF_RGD_ID:1641832 8803409 Prlhr prolactin releasing hormone receptor gene DOID:630 genetic disease ISO RGD:732732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803409 Prlhr prolactin releasing hormone receptor gene DOID:9970 obesity ISO RGD:71037 D RGD:9068941 20200609 RGD PMID:15854142|REF_RGD_ID:1641829 8803414 Sema4g semaphorin 4G gene DOID:630 genetic disease ISO RGD:1321336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803441 Rlf RLF zinc finger gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8803441 Rlf RLF zinc finger gene DOID:630 genetic disease ISO RGD:1313242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803459 Rbmx2 RNA binding motif protein X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8803459 Rbmx2 RNA binding motif protein X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1345969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8803459 Rbmx2 RNA binding motif protein X-linked 2 gene DOID:630 genetic disease ISO RGD:1345969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803469 Tmco5a transmembrane and coiled-coil domains 5A gene DOID:10283 prostate cancer ISO RGD:1606151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8803469 Tmco5a transmembrane and coiled-coil domains 5A gene DOID:2717 Bloom syndrome ISO RGD:1606151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8803469 Tmco5a transmembrane and coiled-coil domains 5A gene DOID:630 genetic disease ISO RGD:1606151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803469 Tmco5a transmembrane and coiled-coil domains 5A gene DOID:9256 colorectal cancer ISO RGD:1606151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8803513 Mtcl3 MTCL family member 3 gene DOID:630 genetic disease ISO RGD:1347447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803513 Mtcl3 MTCL family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1347447 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8803523 Arpc4 actin related protein 2/3 complex subunit 4 gene DOID:14250 Down syndrome ISO RGD:1320803 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:12054546|REF_RGD_ID:11570562 8803523 Arpc4 actin related protein 2/3 complex subunit 4 gene DOID:2843 long QT syndrome ISO RGD:1320803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8803523 Arpc4 actin related protein 2/3 complex subunit 4 gene DOID:630 genetic disease ISO RGD:1320803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35047857 8803523 Arpc4 actin related protein 2/3 complex subunit 4 gene DOID:8893 psoriasis ISO RGD:1320804 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 8803523 Arpc4 actin related protein 2/3 complex subunit 4 gene DOID:9000955 Acute Otitis Media IEP D RGD:11553828|PMID:26711468 20161013 RGD mRNA, protein:increased expression:mucosa of middle ear 8803523 Arpc4 actin related protein 2/3 complex subunit 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8803523 Arpc4 actin related protein 2/3 complex subunit 4 gene DOID:9005464 Developmental Delay, Language Impairment, and Ocular Abnormalities ISO RGD:1320803 D RGD:7240710 20221214 OMIM 8803523 Arpc4 actin related protein 2/3 complex subunit 4 gene DOID:9005464 Developmental Delay, Language Impairment, and Ocular Abnormalities ISO RGD:1320803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities PMID:35047857 8803523 Arpc4 actin related protein 2/3 complex subunit 4 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1320803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8803533 Arhgap29 Rho GTPase activating protein 29 gene DOID:0050746 mantle cell lymphoma ISO RGD:1606326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17488656 8803533 Arhgap29 Rho GTPase activating protein 29 gene DOID:0080600 COVID-19 ISO RGD:1606326 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8803533 Arhgap29 Rho GTPase activating protein 29 gene DOID:0110213 isolated cleft palate ISO RGD:1606326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:25741868 8803533 Arhgap29 Rho GTPase activating protein 29 gene DOID:630 genetic disease ISO RGD:1606326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803533 Arhgap29 Rho GTPase activating protein 29 gene DOID:9296 cleft lip ISO RGD:1606326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate PMID:25741868 8803571 Ostm1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1345018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8803571 Ostm1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0110939 autosomal recessive osteopetrosis 5 ISO RGD:1345018 D RGD:7240710 20180130 OMIM 8803571 Ostm1 osteoclastogenesis associated transmembrane protein 1 gene DOID:0110939 autosomal recessive osteopetrosis 5 ISO RGD:1345018 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 PMID:12627228|PMID:16813530|PMID:25741868|PMID:28492532|PMID:28612835 8803571 Ostm1 osteoclastogenesis associated transmembrane protein 1 gene DOID:13533 osteopetrosis ISO RGD:1345018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis 8803571 Ostm1 osteoclastogenesis associated transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8803593 Plekhg6 pleckstrin homology and RhoGEF domain containing G6 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1605382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8803593 Plekhg6 pleckstrin homology and RhoGEF domain containing G6 gene DOID:630 genetic disease ISO RGD:1605382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803593 Plekhg6 pleckstrin homology and RhoGEF domain containing G6 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8803616 Glrx glutaredoxin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8803616 Glrx glutaredoxin gene DOID:0080600 COVID-19 ISO RGD:736383 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8803616 Glrx glutaredoxin gene DOID:224 transient cerebral ischemia ISO RGD:70951 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:10329397|REF_RGD_ID:9686043 8803616 Glrx glutaredoxin gene DOID:630 genetic disease ISO RGD:736383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803616 Glrx glutaredoxin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8803616 Glrx glutaredoxin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70951 D RGD:9068941 20200609 RGD protein:increase activity:retina: PMID:17324929|REF_RGD_ID:9686046 8803616 Glrx glutaredoxin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8803616 Glrx glutaredoxin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:70951 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart: PMID:18163565|REF_RGD_ID:2306160 8803616 Glrx glutaredoxin gene DOID:9970 obesity ISO RGD:70951 D RGD:9068941 20200609 RGD protein:increased expression:renal visceral adipose: PMID:23404913|REF_RGD_ID:9686064 8803642 Bfar bifunctional apoptosis regulator gene DOID:630 genetic disease ISO RGD:1312438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803685 Srl sarcalumenin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8803685 Srl sarcalumenin gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1315254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8803685 Srl sarcalumenin gene DOID:1059 intellectual disability ISO RGD:1315254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8803685 Srl sarcalumenin gene DOID:1826 epilepsy ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8803685 Srl sarcalumenin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315254 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8803685 Srl sarcalumenin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1315254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8803685 Srl sarcalumenin gene DOID:630 genetic disease ISO RGD:1315254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803705 Aplp1 amyloid beta precursor like protein 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:736696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8803705 Aplp1 amyloid beta precursor like protein 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8803705 Aplp1 amyloid beta precursor like protein 1 gene DOID:630 genetic disease ISO RGD:736696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803732 Msh6 mutS homolog 6 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:18269114|PMID:24362816|PMID:25741868|PMID:28492532 8803732 Msh6 mutS homolog 6 gene DOID:0060104 cerebellar medulloblastoma ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar medulloblastoma 8803732 Msh6 mutS homolog 6 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1321738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10348829|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11807791|PMID:12376507|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15184898|PMID:15236168|PMID:15340264|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16813607|PMID:17117178|PMID:17453009|PMID:17531815|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19723918|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21239990|PMID:21520333|PMID:21671081|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22691310|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23621914|PMID:23733757|PMID:23755103|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25142776|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27498913|PMID:27601186|PMID:27696107|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30128536|PMID:30152102|PMID:30267214|PMID:30322717|PMID:30324682|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30608896|PMID:30702970|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31159747|PMID:31391288|PMID:31422818|PMID:31730237|PMID:31965077|PMID:32019284|PMID:32156018|PMID:32661327|PMID:32885271|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:34519692|PMID:35430768|PMID:35535697|PMID:36073783|PMID:5559809|PMID:8838326|PMID:9354786|PMID:9510473 8803732 Msh6 mutS homolog 6 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:10348829|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11807791|PMID:12376507|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16813607|PMID:17117178|PMID:17453009|PMID:17531815|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19723918|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21239990|PMID:21520333|PMID:21671081|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22691310|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23621914|PMID:23733757|PMID:23755103|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25085752|PMID:25117503|PMID:25142776|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27363726|PMID:27398995|PMID:27498913|PMID:27601186|PMID:27696107|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29489754|PMID:29625052|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30128536|PMID:30152102|PMID:30267214|PMID:30322717|PMID:30324682|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30608896|PMID:30702970|PMID:30787465|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31589614|PMID:31730237|PMID:31742824|PMID:31830689|PMID:31965077|PMID:31997046|PMID:32019284|PMID:32156018|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33693762|PMID:34086170|PMID:34178123|PMID:34271781|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34637943|PMID:35128723|PMID:35372080|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36073783|PMID:36988593|PMID:551112|PMID:5559809|PMID:580251|PMID:8838326|PMID:9354786|PMID:9510473|PMID:9774676 8803732 Msh6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:7240710 20180130 OMIM 8803732 Msh6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11333868|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381 8803732 Msh6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27380347|PMID:27398995|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27965287|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29300386|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30212499|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31785789|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697 8803732 Msh6 mutS homolog 6 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32540221|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34687117|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35534218|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36425062|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37307877|PMID:551112|PMID:5559809|PMID:580251|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:0080199 colorectal carcinoma ISO RGD:1321738 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 8803732 Msh6 mutS homolog 6 gene DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 PMID:22658618|PMID:25741868|PMID:28492532 8803732 Msh6 mutS homolog 6 gene DOID:0080777 lung sarcomatoid carcinoma ISO RGD:1321738 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lung sarcomatoid carcinoma 8803732 Msh6 mutS homolog 6 gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:1321738 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:25326637|PMID:25741868|PMID:28492532 8803732 Msh6 mutS homolog 6 gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII PMID:25741868|PMID:28492532|PMID:33471991 8803732 Msh6 mutS homolog 6 gene DOID:0110957 Gaucher's disease type I ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile PMID:22493294 8803732 Msh6 mutS homolog 6 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1321738 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681|PMID:33471991|PMID:34445333|PMID:35980532 8803732 Msh6 mutS homolog 6 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 8803732 Msh6 mutS homolog 6 gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:1321738 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681|PMID:33471991|PMID:34445333|PMID:35980532 8803732 Msh6 mutS homolog 6 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MMR DEFICIENCY PMID:10508506|PMID:10537275|PMID:10612827|PMID:11470537|PMID:11807791|PMID:12019211|PMID:14520694|PMID:15483016|PMID:15782118|PMID:15872200|PMID:16000562|PMID:16199547|PMID:16408224|PMID:16636019|PMID:16813607|PMID:16885385|PMID:17531815|PMID:17594722|PMID:17909073|PMID:18269114|PMID:18301448|PMID:18566915|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20531397|PMID:20937110|PMID:21120944|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22851212|PMID:23047549|PMID:23359684|PMID:23621914|PMID:23652311|PMID:23733757|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24448499|PMID:24728189|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26206375|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27363726|PMID:27398995|PMID:27487738|PMID:28125075|PMID:28135145|PMID:28206961|PMID:28323777|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29489754|PMID:29596542|PMID:29684080|PMID:29717530|PMID:29755653|PMID:29887214|PMID:29967336|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30128536|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30702970|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31204389|PMID:31307542|PMID:31360874|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31882575|PMID:31965077|PMID:32068069|PMID:32547938|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32832836|PMID:32980694|PMID:33294277|PMID:33422027|PMID:33471991|PMID:33563768|PMID:34088725|PMID:34178123|PMID:34426522|PMID:34445333|PMID:35449176|PMID:35904628|PMID:36243179|PMID:36988593 8803732 Msh6 mutS homolog 6 gene DOID:10283 prostate cancer ISO RGD:1321738 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:25741868|PMID:28492532 8803732 Msh6 mutS homolog 6 gene DOID:10534 stomach cancer ISO RGD:1321738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10471527|PMID:10508506|PMID:11807791|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14974087|PMID:15098177|PMID:15236168|PMID:15365995|PMID:15483016|PMID:15837969|PMID:16199547|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16813607|PMID:16885385|PMID:17082796|PMID:17117178|PMID:17453009|PMID:17557300|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19526325|PMID:19723918|PMID:19851887|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22250089|PMID:22480969|PMID:22495361|PMID:22734033|PMID:22949379|PMID:23047549|PMID:23263490|PMID:23621914|PMID:23700467|PMID:23733757|PMID:23757202|PMID:24033266|PMID:24068316|PMID:24100870|PMID:24244552|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728189|PMID:24933100|PMID:25006859|PMID:25110875|PMID:25117503|PMID:25194673|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26318770|PMID:26374070|PMID:26436112|PMID:26467025|PMID:26552419|PMID:26681312|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:27064304|PMID:27363726|PMID:27372833|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27723366|PMID:27854360|PMID:27863258|PMID:27965287|PMID:27978560|PMID:28176205|PMID:28195393|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28724667|PMID:28765196|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29371908|PMID:29442399|PMID:29489754|PMID:29785566|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30019097|PMID:30093976|PMID:30147880|PMID:30322717|PMID:30324682|PMID:30387329|PMID:30521064|PMID:30536544|PMID:30702970|PMID:30730459|PMID:30787465|PMID:31054147|PMID:31297992|PMID:31391288|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31589614|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31921681|PMID:31997046|PMID:32008151|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32141610|PMID:32242007|PMID:32427313|PMID:32449172|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32719484|PMID:32832836|PMID:32941469|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33693762|PMID:34178123|PMID:34271781|PMID:34425783|PMID:34426522|PMID:34637943|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36988593|PMID:9307272|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1321738 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18254781|REF_RGD_ID:2293503 8803732 Msh6 mutS homolog 6 gene DOID:12192 sigmoid colon cancer ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:12376507|PMID:18809606|PMID:19924528|PMID:20176959|PMID:22283331|PMID:24710284|PMID:24728327|PMID:25536104|PMID:25741868|PMID:26046366|PMID:26467025|PMID:28492532|PMID:9354786 8803732 Msh6 mutS homolog 6 gene DOID:1380 endometrial cancer ISO RGD:1321738 D RGD:7240710 20190213 OMIM 8803732 Msh6 mutS homolog 6 gene DOID:1520 colon carcinoma ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23294250|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23990280|PMID:24033266|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25186627|PMID:25231023|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25871441|PMID:25980754|PMID:26023681|PMID:26181448|PMID:26274037|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787237|PMID:26845104|PMID:26898890|PMID:26900293|PMID:27013479|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27498913|PMID:27601186|PMID:27723366|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28153049|PMID:28176205|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29575718|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30306255|PMID:30322717|PMID:30337059|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30729418|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31647837|PMID:31730237|PMID:31857677|PMID:31965077|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32242007|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32809219|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33693762|PMID:8838326|PMID:9345684|PMID:9536098 8803732 Msh6 mutS homolog 6 gene DOID:1520 colon carcinoma ISO RGD:1321738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19723918|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23294250|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25085752|PMID:25117503|PMID:25186627|PMID:25231023|PMID:25307252|PMID:25318681|PMID:25363768|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26181448|PMID:26274037|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26787237|PMID:26845104|PMID:26898890|PMID:26900293|PMID:27013479|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27398995|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27498913|PMID:27601186|PMID:27723366|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28153049|PMID:28176205|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28591191|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29489754|PMID:29575718|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30166433|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30376427|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30787465|PMID:30877237|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31647837|PMID:31660093|PMID:31730237|PMID:31742824|PMID:31785789|PMID:31845022|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32081490|PMID:32091409 8803732 Msh6 mutS homolog 6 gene DOID:1520 colon carcinoma ISO RGD:1321738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:32156018|PMID:32242007|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32659497|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32941469|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33630411|PMID:33693762|PMID:33746161|PMID:34011629|PMID:34086170|PMID:34088725|PMID:34178123|PMID:34308104|PMID:34326862|PMID:34425783|PMID:34426522|PMID:34944796|PMID:35128723|PMID:35263119|PMID:35264596|PMID:35430768|PMID:35449176|PMID:36293153|PMID:36793599|PMID:36988593|PMID:8838326|PMID:9345684|PMID:9536098|PMID:9774676 8803732 Msh6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:15952900|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23729658|PMID:24033266|PMID:24055113|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28166811|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31921681|PMID:32019277|PMID:32615015|PMID:32980694|PMID:33471991 8803732 Msh6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31921681|PMID:32019277|PMID:32615015|PMID:32634176|PMID:32980694|PMID:33471991 8803732 Msh6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469 8803732 Msh6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34445333|PMID:34637943|PMID:35128723|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35980532|PMID:36988593 8803732 Msh6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593 8803732 Msh6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593 8803732 Msh6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31589614|PMID:31666926|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32427313|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33309985|PMID:33471991|PMID:33563768|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593 8803732 Msh6 mutS homolog 6 gene DOID:1612 breast cancer ISO RGD:1321738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21255554|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:2968408|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31589614|PMID:31666926|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32427313|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33309985|PMID:33471991|PMID:33563768|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34598035|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593 8803732 Msh6 mutS homolog 6 gene DOID:1896 sigmoid neoplasm ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:12376507|PMID:18809606|PMID:19924528|PMID:20176959|PMID:22283331|PMID:24710284|PMID:24728327|PMID:25536104|PMID:25741868|PMID:26046366|PMID:26467025|PMID:28492532|PMID:9354786 8803732 Msh6 mutS homolog 6 gene DOID:1926 Gaucher's disease ISO RGD:1321738 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Acid beta-glucosidase deficiency PMID:22493294 8803732 Msh6 mutS homolog 6 gene DOID:234 colon adenocarcinoma ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:25741868 8803732 Msh6 mutS homolog 6 gene DOID:2394 ovarian cancer ISO RGD:1321738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10508506|PMID:10537275|PMID:11470537|PMID:12019211|PMID:15782118|PMID:16408224|PMID:16636019|PMID:16885385|PMID:17312306|PMID:17531815|PMID:17594722|PMID:18566915|PMID:21120944|PMID:22102614|PMID:22495361|PMID:23047549|PMID:23403630|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24448499|PMID:25085752|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26689913|PMID:27363726|PMID:27601186|PMID:28466842|PMID:28492532|PMID:28531214|PMID:28873162|PMID:29945567|PMID:30267214|PMID:30982232|PMID:31307542|PMID:31742824|PMID:31882575|PMID:32068069|PMID:32547938|PMID:33294277|PMID:33471991|PMID:34326862|PMID:34598035|PMID:35223509|PMID:35449176|PMID:35904628|PMID:36243179 8803732 Msh6 mutS homolog 6 gene DOID:2871 endometrial carcinoma ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12373605|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16940983|PMID:17082796|PMID:17117178|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17417778|PMID:17453009|PMID:17498565|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21431882|PMID:21520333|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22703879|PMID:22734033|PMID:22810696|PMID:22851212|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24073290|PMID:24100870|PMID:24278394|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25307252|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25782445|PMID:25801821|PMID:25862369|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26099011|PMID:26206375|PMID:26274037|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851 8803732 Msh6 mutS homolog 6 gene DOID:2871 endometrial carcinoma ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27380347|PMID:27398995|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27487738|PMID:27498913|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27714650|PMID:27723366|PMID:27854360|PMID:27863258|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30212499|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30572730|PMID:30575961|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31204389|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31589614|PMID:31609810|PMID:31613886|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31830689|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32875559|PMID:32885271|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33008098|PMID:33087929|PMID:33294277|PMID:33309985|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33563768|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34086170|PMID:34088725|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34637943|PMID:34687117|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35264596 8803732 Msh6 mutS homolog 6 gene DOID:2871 endometrial carcinoma ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:35372080|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35655404|PMID:35725860|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36425062|PMID:36988593|PMID:37088804|PMID:503524|PMID:5559809|PMID:580154|PMID:624910|PMID:8063241|PMID:9307272|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3247 rhabdomyosarcoma ISO RGD:1321738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:21520333|PMID:25741868|PMID:26467025|PMID:28153049|PMID:28492532|PMID:29750335|PMID:29755653|PMID:30128536|PMID:31100584|PMID:31965077|PMID:33467402 8803732 Msh6 mutS homolog 6 gene DOID:3347 osteosarcoma disease_progression ISO RGD:1321738 D RGD:9068941 20210430 RGD PMID:25503122|REF_RGD_ID:126848779 8803732 Msh6 mutS homolog 6 gene DOID:3459 breast carcinoma ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:10537275|PMID:10699937|PMID:11470537|PMID:12019211|PMID:12732731|PMID:15098177|PMID:15236168|PMID:15483016|PMID:15782118|PMID:15805151|PMID:16203774|PMID:16270383|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16885385|PMID:18269114|PMID:18301448|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18566915|PMID:19072991|PMID:20028993|PMID:20487569|PMID:21039432|PMID:21056691|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24362816|PMID:25117503|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26832770|PMID:27601186|PMID:27696107|PMID:28176205|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29212164|PMID:29345684|PMID:29785566|PMID:29978187|PMID:30521064|PMID:31391288|PMID:31857677|PMID:31965077|PMID:32242007|PMID:33471991|PMID:8838326 8803732 Msh6 mutS homolog 6 gene DOID:3459 breast carcinoma ISO RGD:1321738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10537275|PMID:10699937|PMID:11470537|PMID:12019211|PMID:12732731|PMID:15098177|PMID:15236168|PMID:15483016|PMID:15782118|PMID:15805151|PMID:16203774|PMID:16270383|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16771955|PMID:16885385|PMID:18269114|PMID:18301448|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18566915|PMID:19072991|PMID:19723918|PMID:20028993|PMID:20487569|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24362816|PMID:25117503|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28176205|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29212164|PMID:29345684|PMID:29785566|PMID:29922827|PMID:29978187|PMID:30322717|PMID:30521064|PMID:31391288|PMID:31589614|PMID:31830689|PMID:31857677|PMID:31882575|PMID:31965077|PMID:31997046|PMID:32081490|PMID:32242007|PMID:32427313|PMID:32547938|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32941469|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35264596|PMID:35449176|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36988593|PMID:8838326 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:4520694|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20301500|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34519692|PMID:4520694|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:35806449|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:35806449|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35430768|PMID:35535697|PMID:35806449|PMID:36073783|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30733081|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35806449|PMID:36073783|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35245693|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:36073783|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35904628|PMID:36073783|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931|PMID:31647837 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36315513|PMID:36691871|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26694549|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36315513|PMID:36691871|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26694549|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34944796|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36315513|PMID:36691871|PMID:36988593|PMID:37307877|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27989324|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34944796|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36691871|PMID:36845387|PMID:36988593|PMID:37307877|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34613461|PMID:34637943|PMID:34687117|PMID:34944796|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36315513|PMID:36470260|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37307877|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792 8803732 Msh6 mutS homolog 6 gene DOID:3883 Lynch syndrome ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34687117|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37307877|PMID:4520694|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:3910 lung adenocarcinoma ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327329 8803732 Msh6 mutS homolog 6 gene DOID:3948 adrenocortical carcinoma ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 8803732 Msh6 mutS homolog 6 gene DOID:4001 ovarian carcinoma ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:18269114|PMID:20028993|PMID:24362816|PMID:25741868|PMID:26467025|PMID:26517685|PMID:28492532 8803732 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32566746|PMID:32773772|PMID:9510473 8803732 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:33309985|PMID:33471991|PMID:9510473 8803732 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:33309985|PMID:33471991|PMID:9510473 8803732 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27294619|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29345684|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31660093|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:32854451|PMID:33309985|PMID:33471991|PMID:9510473 8803732 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27294619|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29345684|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31660093|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:32854451|PMID:33309985|PMID:33471991|PMID:34371384|PMID:9510473 8803732 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:35467778|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:34519692|PMID:35128723|PMID:35467778|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32773772|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33867526|PMID:34088725|PMID:34178123|PMID:34308104|PMID:34371384|PMID:34445333|PMID:34519692|PMID:35128723|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35904628|PMID:36243179|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32773772|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:35128723|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:630 genetic disease ISO RGD:1321738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11709755|PMID:17576681|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24728327|PMID:25085752|PMID:25419514|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26333163|PMID:26467025|PMID:26901136|PMID:28492532|PMID:28691247|PMID:2968408|PMID:29684080|PMID:30057029|PMID:30267214|PMID:31422818|PMID:32068069|PMID:32615015|PMID:32658311|PMID:32980694|PMID:33471991|PMID:9536098 8803732 Msh6 mutS homolog 6 gene DOID:6741 bilateral breast cancer ISO RGD:1321738 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:23047549|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28687356|PMID:29641532|PMID:29684080|PMID:31159747|PMID:32658311|PMID:33471991|PMID:33558524 8803732 Msh6 mutS homolog 6 gene DOID:687 hepatoblastoma ISO RGD:1321738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:21520333|PMID:25741868|PMID:28492532|PMID:35264596 8803732 Msh6 mutS homolog 6 gene DOID:9000027 Microsatellite Instability ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 8803732 Msh6 mutS homolog 6 gene DOID:9000027 Microsatellite Instability ISO RGD:2322311 D RGD:9068941 20210430 RGD PMID:18417481|REF_RGD_ID:2292505 8803732 Msh6 mutS homolog 6 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29616133 8803732 Msh6 mutS homolog 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321738 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:18269114|PMID:24362816|PMID:25741868|PMID:28492532 8803732 Msh6 mutS homolog 6 gene DOID:9003108 CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ISO RGD:1321738 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681|PMID:33471991|PMID:34445333|PMID:35980532 8803732 Msh6 mutS homolog 6 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 PMID:10508506|PMID:10537275|PMID:10612827|PMID:11470537|PMID:11807791|PMID:12019211|PMID:14520694|PMID:15483016|PMID:15782118|PMID:15872200|PMID:16000562|PMID:16199547|PMID:16283678|PMID:16408224|PMID:16636019|PMID:16813607|PMID:16885385|PMID:17531815|PMID:17557300|PMID:17594722|PMID:17909073|PMID:18269114|PMID:18301448|PMID:18566915|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20531397|PMID:20937110|PMID:21120944|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22851212|PMID:23047549|PMID:23359684|PMID:23621914|PMID:23652311|PMID:23729658|PMID:23733757|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24448499|PMID:24728189|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26206375|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27363726|PMID:27398995|PMID:27487738|PMID:28125075|PMID:28135145|PMID:28206961|PMID:28323777|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29489754|PMID:29596542|PMID:29684080|PMID:29717530|PMID:29755653|PMID:29887214|PMID:29967336|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30128536|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30702970|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31204389|PMID:31307542|PMID:31360874|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31882575|PMID:31965077|PMID:32068069|PMID:32547938|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32832836|PMID:32980694|PMID:33294277|PMID:33422027|PMID:33471991|PMID:33563768|PMID:34088725|PMID:34178123|PMID:34426522|PMID:34445333|PMID:35449176|PMID:35904628|PMID:36243179|PMID:36988593 8803732 Msh6 mutS homolog 6 gene DOID:9004351 Digestive System Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 RGD PMID:9401011|REF_RGD_ID:1625103 8803732 Msh6 mutS homolog 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24728327|PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029 8803732 Msh6 mutS homolog 6 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29616133 8803732 Msh6 mutS homolog 6 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1321738 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:18269114|PMID:24362816|PMID:25741868|PMID:28492532 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20301500|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34519692|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34445333|PMID:34519692|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35039564|PMID:35535697|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30211344|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30733081|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31815888|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32875559|PMID:32885271|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34873480|PMID:35039564|PMID:35263119|PMID:35535697|PMID:35806449|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35245693|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29174094|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35402282|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36230473|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36230473|PMID:36315513|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27989324|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31501241|PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:34944796|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36691871|PMID:36845387|PMID:36988593|PMID:37307877|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147 8803732 Msh6 mutS homolog 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321738 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31100584|PMID:31104363|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31815888|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34687117|PMID:34873480|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35534218|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37307877|PMID:4520694|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:9007150 Urogenital Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 RGD DNA, protein:frameshift mutation, decreased expression PMID:16288216|REF_RGD_ID:2293511 8803732 Msh6 mutS homolog 6 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1321738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10508506 8803732 Msh6 mutS homolog 6 gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1321738 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681|PMID:33471991|PMID:34445333|PMID:35980532 8803732 Msh6 mutS homolog 6 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321738 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:25741868|PMID:28492532|PMID:35806449|PMID:9536098 8803732 Msh6 mutS homolog 6 gene DOID:9009145 Mismatch Repair Cancer Syndrome 3 ISO RGD:1321738 D RGD:7240710 20201202 OMIM 8803732 Msh6 mutS homolog 6 gene DOID:9009145 Mismatch Repair Cancer Syndrome 3 ISO RGD:1321738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 3 PMID:10471527|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10699937|PMID:11153917|PMID:11586295|PMID:11709755|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340263|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15805151|PMID:15837969|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17082796|PMID:17117178|PMID:17259933|PMID:17417778|PMID:17453009|PMID:17557300|PMID:17661183|PMID:17909073|PMID:18033691|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19459153|PMID:19526325|PMID:19723918|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:21056691|PMID:21155762|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22810696|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:23652311|PMID:23757202|PMID:24033266|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24689082|PMID:24728189|PMID:24728327|PMID:24989436|PMID:25006859|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25318681|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26318770|PMID:26467025|PMID:26483394|PMID:26552419|PMID:26681312|PMID:26720728|PMID:26787237|PMID:26845104|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27363726|PMID:27372833|PMID:27380347|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27601186|PMID:27854360|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28176205|PMID:28195393|PMID:28323777|PMID:28423363|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28888541|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29371908|PMID:29442399|PMID:29489754|PMID:29684080|PMID:29717530|PMID:29922827|PMID:29945567|PMID:29978187|PMID:30013564|PMID:30093976|PMID:30147880|PMID:30322717|PMID:30337059|PMID:30387329|PMID:30521064|PMID:30670635|PMID:30729418|PMID:30730459|PMID:30787465|PMID:31054147|PMID:31297992|PMID:31391288|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32029870|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32141610|PMID:32242007|PMID:32449172|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32809219|PMID:32832836|PMID:32941469|PMID:32980694|PMID:33087929|PMID:33471991|PMID:34088725|PMID:34178123|PMID:34371384|PMID:34425783|PMID:34519692|PMID:36988593|PMID:5559809|PMID:9307272|PMID:9929971 8803732 Msh6 mutS homolog 6 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029|PMID:30679813|PMID:34505148 8803732 Msh6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077 8803732 Msh6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077 8803732 Msh6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991 8803732 Msh6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:30982232|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991|PMID:35128723 8803732 Msh6 mutS homolog 6 gene DOID:9256 colorectal cancer ISO RGD:1321738 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:30982232|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991|PMID:35128723 8803732 Msh6 mutS homolog 6 gene DOID:9460 uterine corpus cancer ISO RGD:1321738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:18269114|PMID:24362816|PMID:25741868|PMID:26467025|PMID:28492532 8803746 Cyyr1 cysteine and tyrosine rich 1 gene DOID:10652 Alzheimer's disease ISO RGD:1354035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 8803746 Cyyr1 cysteine and tyrosine rich 1 gene DOID:630 genetic disease ISO RGD:1354035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803746 Cyyr1 cysteine and tyrosine rich 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8803746 Cyyr1 cysteine and tyrosine rich 1 gene DOID:9005393 Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy ISO RGD:1354035 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy PMID:16369530|PMID:19047566 8803763 Gskip GSK3B interacting protein gene DOID:0070004 myeloid neoplasm ISO RGD:1318256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 8803763 Gskip GSK3B interacting protein gene DOID:2224 essential thrombocythemia ISO RGD:1318256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 8803763 Gskip GSK3B interacting protein gene DOID:4971 myelofibrosis ISO RGD:1318256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 8803763 Gskip GSK3B interacting protein gene DOID:630 genetic disease ISO RGD:1318256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803763 Gskip GSK3B interacting protein gene DOID:8692 myeloid leukemia ISO RGD:1318256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 8803763 Gskip GSK3B interacting protein gene DOID:9119 acute myeloid leukemia ISO RGD:1318256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8803771 Cacnb1 calcium voltage-gated channel auxiliary subunit beta 1 gene DOID:630 genetic disease ISO RGD:68552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803814 Limd2 LIM domain containing 2 gene DOID:630 genetic disease ISO RGD:1603297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803814 Limd2 LIM domain containing 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1603297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 8803814 Limd2 LIM domain containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1603297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 8803822 Slc14a1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:0060356 Vici syndrome ISO RGD:1354455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8803822 Slc14a1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:1059 intellectual disability ISO RGD:1354455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8803822 Slc14a1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:1098 fetal erythroblastosis ISO RGD:1354455 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM 8803822 Slc14a1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:630 genetic disease ISO RGD:1354455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803822 Slc14a1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:718 autoimmune hemolytic anemia ISO RGD:1354455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6427987 8803822 Slc14a1 solute carrier family 14 member 1 (Kidd blood group) gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1354455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8803842 Pars2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:0112211 developmental and epileptic encephalopathy 75 ISO RGD:1603670 D RGD:7240710 20190612 OMIM 8803842 Pars2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:0112211 developmental and epileptic encephalopathy 75 ISO RGD:1603670 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 75 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 PMID:22237560|PMID:25629079|PMID:25705216|PMID:25741868|PMID:27290639|PMID:27348859|PMID:28077841|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31130284|PMID:31487502|PMID:32071833|PMID:32514400|PMID:32533790 8803842 Pars2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:2661 myoepithelioma ISO RGD:1603670 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8803842 Pars2 prolyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1603670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10447505|PMID:25629079|PMID:25705216|PMID:25741868|PMID:27290639|PMID:27348859|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31487502|PMID:32071833|PMID:32514400 8803864 Asb8 ankyrin repeat and SOCS box containing 8 gene DOID:630 genetic disease ISO RGD:1319481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803902 Ogn osteoglycin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1317793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 8803902 Ogn osteoglycin gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1317793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 8803902 Ogn osteoglycin gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1317793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 8803902 Ogn osteoglycin gene DOID:630 genetic disease ISO RGD:1317793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803902 Ogn osteoglycin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1317793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 8803913 Parp11 poly(ADP-ribose) polymerase family member 11 gene DOID:630 genetic disease ISO RGD:1344916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803913 Parp11 poly(ADP-ribose) polymerase family member 11 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8803940 Tex13c TEX13 family member C gene DOID:12849 autistic disorder ISO RGD:10449326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8803964 Slc16a14 solute carrier family 16 member 14 gene DOID:630 genetic disease ISO RGD:1320146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803977 Cfap251 cilia and flagella associated protein 251 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1606715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 PMID:30122540 8803977 Cfap251 cilia and flagella associated protein 251 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1606715 D RGD:7240710 20190315 OMIM 8803977 Cfap251 cilia and flagella associated protein 251 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1606715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 33 PMID:30122540|PMID:30122541 8803977 Cfap251 cilia and flagella associated protein 251 gene DOID:630 genetic disease ISO RGD:1606715 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8803977 Cfap251 cilia and flagella associated protein 251 gene DOID:9001513 Asthenozoospermia ISO RGD:1606715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: asthenozoospermia PMID:30122541 8804004 Tusc2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8804004 Tusc2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8804004 Tusc2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:630 genetic disease ISO RGD:1343391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804004 Tusc2 tumor suppressor 2, mitochondrial calcium regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343391 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8804023 Uck2 uridine-cytidine kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8804023 Uck2 uridine-cytidine kinase 2 gene DOID:1793 pancreatic cancer ISO RGD:1602230 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic neoplasm (human) PMID:12149149|REF_RGD_ID:5133269 8804023 Uck2 uridine-cytidine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1602230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8804023 Uck2 uridine-cytidine kinase 2 gene DOID:630 genetic disease ISO RGD:1602230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804023 Uck2 uridine-cytidine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8804023 Uck2 uridine-cytidine kinase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620742 D RGD:9068941 20200609 RGD protein:decreased activity:heart, skeletal muscle PMID:221781|REF_RGD_ID:2317214 8804023 Uck2 uridine-cytidine kinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:1602230 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8804023 Uck2 uridine-cytidine kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1606022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1606022 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1606022 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1606022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1606022 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1606022 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:12849 autistic disorder ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:5419 schizophrenia ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:630 genetic disease ISO RGD:1606022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8804036 Sez6l2 seizure related 6 homolog like 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1606022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8804067 Fam131c family with sequence similarity 131 member C gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8804067 Fam131c family with sequence similarity 131 member C gene DOID:630 genetic disease ISO RGD:1606908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804085 Prdm1 PR/SET domain 1 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:22321048|REF_RGD_ID:150530470 8804085 Prdm1 PR/SET domain 1 gene DOID:0080600 COVID-19 ISO RGD:1323391 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8804085 Prdm1 PR/SET domain 1 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:24438193|REF_RGD_ID:150530467 8804085 Prdm1 PR/SET domain 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1323391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 8804085 Prdm1 PR/SET domain 1 gene DOID:1324 lung cancer disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:28378641|REF_RGD_ID:150530469 8804085 Prdm1 PR/SET domain 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:28378641|REF_RGD_ID:150530469 8804085 Prdm1 PR/SET domain 1 gene DOID:630 genetic disease ISO RGD:1323391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804085 Prdm1 PR/SET domain 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD associated with hepatitis B; PMID:31100710|REF_RGD_ID:150530465 8804085 Prdm1 PR/SET domain 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD associated with hepatitis B;DNA:SNP: :rs1010273(human) PMID:31376415|REF_RGD_ID:150530466 8804085 Prdm1 PR/SET domain 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1323391 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:19898481|PMID:20453842|PMID:23143596|PMID:36181686 8804085 Prdm1 PR/SET domain 1 gene DOID:8577 ulcerative colitis ISO RGD:1323391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 8804085 Prdm1 PR/SET domain 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1323391 D RGD:9068941 20230706 CTD CTD Direct Evidence: therapeutic PMID:36181686 8804085 Prdm1 PR/SET domain 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1323391 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:33109608 8804085 Prdm1 PR/SET domain 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1323391 D RGD:9068941 20211210 RGD PMID:31100710|REF_RGD_ID:150530465 8804085 Prdm1 PR/SET domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323391 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 8804085 Prdm1 PR/SET domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323392 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8804085 Prdm1 PR/SET domain 1 gene DOID:9256 colorectal cancer ISO RGD:1323391 D RGD:9068941 20211210 RGD mRNA:increased expression:colorectum: PMID:32393998|REF_RGD_ID:150530478 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0002116 pterygium disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:19420332|REF_RGD_ID:8657043 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0050700 cardiomyopathy ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16681691|REF_RGD_ID:1581215 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17642161|REF_RGD_ID:2290392 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0060224 atrial fibrillation ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:18194448|REF_RGD_ID:8547896 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0080001 bone disease ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17440987 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0080162 lupus nephritis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22479529 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0080334 aortic valve disease 2 ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23615040|REF_RGD_ID:13204802 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0080600 COVID-19 ISO RGD:730821 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0080685 aortic dissection treatment ISO RGD:730822 D RGD:9068941 20230223 RGD Apolipoprotein E knockout PMID:33403385|REF_RGD_ID:156420156 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0080696 Winchester syndrome ISO RGD:730821 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Winchester-Grossman syndrome PMID:10356396|PMID:11431697|PMID:15691365|PMID:16458924|PMID:16542393|PMID:17059372|PMID:17576681|PMID:19019335|PMID:20617897|PMID:20673868|PMID:21421877|PMID:23313298|PMID:23378725|PMID:25600631|PMID:25704319|PMID:25741868|PMID:2625626|PMID:27182040|PMID:28492532|PMID:6525336|PMID:9536098 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0080746 Sweet syndrome ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21658319|REF_RGD_ID:8657060 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0080933 immunoglobulin light chain amyloidosis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:renal glomeruli (human) PMID:16164636|REF_RGD_ID:7207084 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (rat) PMID:11590325|REF_RGD_ID:7207204 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0081292 traumatic brain injury ISO RGD:621316 D RGD:9068941 20230727 RGD protein:increased expression:cerebral cortex PMID:27614125|REF_RGD_ID:329961568 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:730821 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17558409|PMID:28492532 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:0111563 Sturge-Weber syndrome severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23720035|REF_RGD_ID:13204823 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10126 keratoconus ISO RGD:730821 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:22580443|REF_RGD_ID:8657033 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10159 osteonecrosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19070762 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18329693|REF_RGD_ID:2290389 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:23185624|REF_RGD_ID:13204814 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10591 pre-eclampsia ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:placenta PMID:17083831|REF_RGD_ID:2290399 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730821 D RGD:9068941 20200609 RGD protein:decreased expression:platelet PMID:21875409|REF_RGD_ID:10059680 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:1073 renal hypertension ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:12923405|REF_RGD_ID:1302333 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10763 hypertension ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:17977875|REF_RGD_ID:2290351 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10763 hypertension ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18836702 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10763 hypertension ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16840178|REF_RGD_ID:1582612 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10808 gastric ulcer ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:15375341|REF_RGD_ID:10043177 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10941 intracranial aneurysm ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel PMID:17569872|REF_RGD_ID:2290352 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10941 intracranial aneurysm ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:9724118|REF_RGD_ID:1582590 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16961137|REF_RGD_ID:1582646 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:10964 cholesteatoma of middle ear severity ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:15620146|REF_RGD_ID:8547870 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30548095 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:17466450|REF_RGD_ID:2290395 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:621316 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:21910062|REF_RGD_ID:9999396 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:11830 myopia ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNPs:cds, introns:multiple PMID:20484597|REF_RGD_ID:8549731 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18585501|REF_RGD_ID:5130889 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:12662 paracoccidioidomycosis ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:19765107|REF_RGD_ID:8657058 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:127 leiomyoma ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:17943549|REF_RGD_ID:2290362 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:730822 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid PMID:17254480|REF_RGD_ID:5130726 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:11034943|REF_RGD_ID:1582586 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16037568|REF_RGD_ID:1582576 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:13001 carotid stenosis ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16147977|REF_RGD_ID:1582575 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:19357873|REF_RGD_ID:2325738 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:13241 Behcet's disease ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:17949555|REF_RGD_ID:8657044 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:13375 temporal arteritis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased activity:temporal artery PMID:17502363|REF_RGD_ID:8657040 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:13580 cholestasis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:21274875|REF_RGD_ID:8552699 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:20621845|REF_RGD_ID:5129489 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16159824 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16159824|REF_RGD_ID:1582608 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:14323 Marfan syndrome ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:14323 Marfan syndrome ISO RGD:730821 D RGD:9068941 20200609 RGD associated with thoracic aortic aneurysm;protein:decreased activity:aorta (human) PMID:16820601|REF_RGD_ID:1582351 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:14323 Marfan syndrome treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:18178469|REF_RGD_ID:13204796 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:1574 alcohol use disorder ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:24966898|REF_RGD_ID:13207311 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:1727 retinal vein occlusion ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1306C>T (rs243865) (human) PMID:23791966|REF_RGD_ID:8657048 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:21624249|REF_RGD_ID:8657057 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:1793 pancreatic cancer ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:1793 pancreatic cancer ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7635566|REF_RGD_ID:2325766 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:1793 pancreatic cancer ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased activity:pancreatic juice PMID:11961486|REF_RGD_ID:2325752 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:182 calcinosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545515|PMID:21193197 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:1936 atherosclerosis ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16317521|REF_RGD_ID:1582628 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:1936 atherosclerosis ameliorates ISO RGD:730822 D RGD:9068941 20230330 RGD PMID:31757932|REF_RGD_ID:242905202 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:1936 atherosclerosis treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:20370796|REF_RGD_ID:8657031 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:224 transient cerebral ischemia ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:brain PMID:11592852|REF_RGD_ID:8547930 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:24828425|REF_RGD_ID:8657086 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:2316 brain ischemia ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:15963646|REF_RGD_ID:1582577 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:234 colon adenocarcinoma ISO RGD:730821 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:2349 arteriosclerosis ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:255 hemangioma ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:19821096|REF_RGD_ID:8657063 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:2615 papilloma treatment ISO RGD:730822 D RGD:9068941 20200609 RGD associated with Skin Neoplasms PMID:20619141|REF_RGD_ID:8657035 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16901349|REF_RGD_ID:2290349 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:multiple PMID:20541540|REF_RGD_ID:8657064 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:17786346|REF_RGD_ID:5130203 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:289 endometriosis ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:20056200|REF_RGD_ID:2325695 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:3068 glioblastoma ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16598420 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:3068 glioblastoma severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:7616276|REF_RGD_ID:7207145 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:3070 high grade glioma treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:19292920|REF_RGD_ID:8657080 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:321 tropical spastic paraparesis ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome PMID:10464559|REF_RGD_ID:8657078 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:326 ischemia ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:12842442|REF_RGD_ID:1582562 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730822 D RGD:9068941 20200609 RGD protein:increased expression:skin of body, spinal cord PMID:20441996|REF_RGD_ID:13204793 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebrospinal fluid (human) PMID:19796283|REF_RGD_ID:7207054 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:3347 osteosarcoma ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25605016 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:3407 carotid artery disease ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16339461|REF_RGD_ID:1582626 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:3526 cerebral infarction ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16846501 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17377415|REF_RGD_ID:2325746 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730821 D RGD:9068941 20220526 RGD protein:increased activity: esophagus PMID:24789592|REF_RGD_ID:152600903 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21468558 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:lung PMID:17143501|REF_RGD_ID:5130739 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:4079 heart valve disease ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:24093773|REF_RGD_ID:13204818 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:4448 macular degeneration no_association ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1306C>T (rs243865) (human) PMID:23536957|REF_RGD_ID:8657041 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:4448 macular degeneration susceptibility ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:c.1380G>A (rs2287074) (human) PMID:18359774|REF_RGD_ID:8657039 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:4450 renal cell carcinoma ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:18035688|REF_RGD_ID:2290358 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17572184|REF_RGD_ID:2290359 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:15213623|REF_RGD_ID:2324667 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:19629755|REF_RGD_ID:2325769 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:5082 liver cirrhosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15763341|PMID:26396155 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23411180|REF_RGD_ID:8657103 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:520 aortic disease ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545515 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:5517 stomach carcinoma ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:stomach PMID:20434464|REF_RGD_ID:2325777 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:576 proteinuria ameliorates ISO RGD:621316 D RGD:9068941 20231116 RGD associated with Experimental Diabetes Mellitus; PMID:37643020|REF_RGD_ID:401827835 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:5773 oral submucous fibrosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:5844 myocardial infarction ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:10773235|PMID:11179039|REF_RGD_ID:1582587|REF_RGD_ID:7207136 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:5844 myocardial infarction ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16310260|PMID:24358288 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:6000 congestive heart failure ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:10773234|REF_RGD_ID:2290467 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:6000 congestive heart failure ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle, plasma PMID:20606426|REF_RGD_ID:8694112 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:6000 congestive heart failure severity ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16169329|REF_RGD_ID:1582574 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:6195 conjunctivitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23378729|REF_RGD_ID:8657047 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:630 genetic disease ISO RGD:730821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20084675 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16872482 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:15238617|PMID:15300177|PMID:20016209|REF_RGD_ID:1302825|REF_RGD_ID:1582579|REF_RGD_ID:2325698 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:11457749|REF_RGD_ID:1582585 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm no_association ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16458924|REF_RGD_ID:1582621 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:21256058|PMID:24484904|REF_RGD_ID:13207313|REF_RGD_ID:8657104 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:783 end stage renal disease ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Hypertension; protein:increased expression:plasma (human) PMID:19886850|REF_RGD_ID:7207051 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:820 myocarditis ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16533694|REF_RGD_ID:1582352 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:824 periodontitis ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression: periodontal ligament PMID:16845949|REF_RGD_ID:2325939 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:8398 osteoarthritis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid (human) PMID:15194590|REF_RGD_ID:7207131 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:8553 pyoderma gangrenosum ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21658319|REF_RGD_ID:8657060 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:869 cholesteatoma ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:19484988|REF_RGD_ID:8657059 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:8725 vascular dementia ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16385583|REF_RGD_ID:1582624 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:8923 skin melanoma ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12404291|PMID:20966734|REF_RGD_ID:13204786|REF_RGD_ID:8657055 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:8923 skin melanoma severity ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:18251742|REF_RGD_ID:8657075 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:8947 diabetic retinopathy ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12714657|REF_RGD_ID:1582582 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:8947 diabetic retinopathy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18552985|REF_RGD_ID:8547849 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16619570|REF_RGD_ID:2290402 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:18665467|REF_RGD_ID:2325743 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:24436993|REF_RGD_ID:8657106 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast PMID:23280016|REF_RGD_ID:8655998 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Tongue Neoplasms PMID:23107277|REF_RGD_ID:8547824 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23323009|REF_RGD_ID:13207328 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:24419461|REF_RGD_ID:8657111 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:22475348|REF_RGD_ID:8657107 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000784 Fibrosis ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:20108118|REF_RGD_ID:2325790 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000918 Disease Progression ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22321834 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:621316 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000955 Acute Otitis Media ISO RGD:730822 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;protein:increased expression:brain PMID:16158251|REF_RGD_ID:8547884 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674|PMID:18398872|PMID:21209944|PMID:22321834|PMID:23707804|PMID:30603057 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Gallbladder Neoplasms; protein:increased expression:gallbladder PMID:18665467|REF_RGD_ID:2325743 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD associated with pancreatic cancer; protein:increased expression, increased activity:pancreas PMID:12173379|REF_RGD_ID:2325749 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:730821 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9001004 Chronic Periodontitis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Atherosclerosis PMID:24820783|REF_RGD_ID:13207324 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:25314292|REF_RGD_ID:13207327 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:21666238|REF_RGD_ID:8657062 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730821 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa PMID:23064462|REF_RGD_ID:8549735 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9001472 Nasal Polyps treatment ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:21305560|REF_RGD_ID:8656001 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15095483|PMID:25380136 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:19528495|REF_RGD_ID:2325736 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver PMID:19539802|REF_RGD_ID:2325734 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002165 Diabetic Nephropathies ameliorates ISO RGD:621316 D RGD:9068941 20231116 RGD PMID:37643020|REF_RGD_ID:401827835 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23384615|REF_RGD_ID:13204971 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002221 Hyperplasia ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19726059|REF_RGD_ID:2325718 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1306C>T (human) PMID:17367869|REF_RGD_ID:13204803 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17440987 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002484 Maxillary Diseases ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19070762 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002514 Neointima ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17964422 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002514 Neointima treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23344254|REF_RGD_ID:13207403 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002522 Embolism ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:15920147|REF_RGD_ID:1582578 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10698078 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-735C>T PMID:18424416|REF_RGD_ID:2298519 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:19922364|REF_RGD_ID:2325703 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9002906 Multiple Organ Failure ISO RGD:730822 D RGD:9068941 20200609 RGD protein:increased activity:liver, spleen (mouse) PMID:15259001|REF_RGD_ID:7207133 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9003036 Oral Lichen Planus ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:22554030|REF_RGD_ID:8656000 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9003230 Graft Occlusion, Vascular ISO RGD:730822 D RGD:9068941 20200609 RGD associated with Renal Insufficiency; mRNA:increased expression:arteriovenous fistula (mouse) PMID:20598569|REF_RGD_ID:7207202 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9003234 Hypertensive Nephropathy ameliorates ISO RGD:621316 D RGD:9068941 20231116 RGD PMID:37643020|REF_RGD_ID:401827835 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16619570|REF_RGD_ID:2290402 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22321834 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa: PMID:19786210|REF_RGD_ID:5130872 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased activity:urine (human) PMID:17898039|REF_RGD_ID:7207083 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:730822 D RGD:9068941 20200609 RGD protein:increased activity:brain PMID:15364410|REF_RGD_ID:8547868 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16171603|PMID:20515599|REF_RGD_ID:1582570|REF_RGD_ID:2325775 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9003936 Cardiomegaly ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16327176|REF_RGD_ID:1582627 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9004080 Aortic Rupture ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9004389 Bone Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9004484 Sepsis treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23479197|REF_RGD_ID:8657110 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730821 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:18398872|PMID:19770485|PMID:22321834|PMID:23707804|PMID:34278709 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23040778|REF_RGD_ID:13207316 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Hypertension, Renovascular PMID:23073243|REF_RGD_ID:8657108 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9004657 Weight Gain ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322899 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9005147 Hydatidiform Mole ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:syncytiotrophoblast cell PMID:16884384|REF_RGD_ID:2290363 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9005175 Ulcer ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16934674|REF_RGD_ID:1582595 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9005175 Ulcer ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12452868|REF_RGD_ID:1582583 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17607721 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:19725228|REF_RGD_ID:2325823 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28574600 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:23359979|REF_RGD_ID:8657038 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9005372 Inflammation ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24795235 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression:ileal vein PMID:17398390|REF_RGD_ID:1642040 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9005605 Arteriovenous Fistula treatment ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:23924957|REF_RGD_ID:13204800 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21963884 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9006081 Osteolysis ISO RGD:730821 D RGD:9068941 20200609 RGD OMIM:277950, Winchester syndrome PMID:16542393|REF_RGD_ID:1601416 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:621316 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary; protein:increased expression:heart PMID:17913382|REF_RGD_ID:5130174 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:9327785|REF_RGD_ID:8547910 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9006309 Mandibular Diseases ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19070762 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:730821 D RGD:7240710 20180130 OMIM 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:730821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders | ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis, and arthropathy | ClinVar Annotator: match by term: Osteolysis, hereditary multicentric PMID:10356396|PMID:11431697|PMID:15691365|PMID:16458924|PMID:16542393|PMID:17059372|PMID:17576681|PMID:19019335|PMID:20617897|PMID:20673868|PMID:21421877|PMID:23313298|PMID:23378725|PMID:25600631|PMID:25704319|PMID:25741868|PMID:2625626|PMID:27182040|PMID:28492532|PMID:6525336|PMID:9536098 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (rat) PMID:9175058|REF_RGD_ID:4144855 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9007096 Stroke ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:19840223|REF_RGD_ID:2325713 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9007096 Stroke ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:16599837|REF_RGD_ID:1582617 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15763341 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9007480 Hyperoxia ISO RGD:621316 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:lung PMID:15128910|REF_RGD_ID:8547972 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9007590 Gouty Arthritis severity ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:14687896|REF_RGD_ID:8547877 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17009991|REF_RGD_ID:2290360 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730822 D RGD:9068941 20200609 RGD PMID:16699069|REF_RGD_ID:1582614 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23889688|REF_RGD_ID:8657084 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:730821 D RGD:9068941 20200609 RGD associated with pleurisy; protein:decreased activity:pleura PMID:17611666|REF_RGD_ID:5130711 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:skin (human) PMID:20708474|REF_RGD_ID:7207047 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9007971 Nose Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16178123 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:23149858|REF_RGD_ID:8657112 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9008527 Chlamydophila Infections ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:12526080|REF_RGD_ID:1582580 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23559867|REF_RGD_ID:8547885 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17400654|PMID:17440987 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18398872|PMID:18507500 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730821 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1306C>T (human) PMID:17851253|REF_RGD_ID:8655999 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17642161|REF_RGD_ID:2290392 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:15538048|REF_RGD_ID:8547818 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:730821 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16949931|REF_RGD_ID:2290401 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21091666 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:730821 D RGD:9068941 20200609 RGD PMID:21091666|REF_RGD_ID:8657030 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9256 colorectal cancer ISO RGD:730821 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9282 ocular hypertension ISO RGD:621316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye PMID:19575923|REF_RGD_ID:2325732 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730821 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17320450|REF_RGD_ID:7207195 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9477 pulmonary embolism ISO RGD:621316 D RGD:9068941 20200609 RGD PMID:16304337|REF_RGD_ID:1582630 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9675 pulmonary emphysema ISO RGD:621316 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:19897563|REF_RGD_ID:4892307 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9675 pulmonary emphysema ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 8804102 Mmp2 matrix metallopeptidase 2 gene DOID:9743 diabetic neuropathy ISO RGD:730821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20213226 8804124 Prdx6 peroxiredoxin 6 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8804124 Prdx6 peroxiredoxin 6 gene DOID:14250 Down syndrome ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11771762 8804124 Prdx6 peroxiredoxin 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8804124 Prdx6 peroxiredoxin 6 gene DOID:2349 arteriosclerosis ISO RGD:736132 D RGD:9068941 20200609 RGD PMID:15488866|REF_RGD_ID:1580711 8804124 Prdx6 peroxiredoxin 6 gene DOID:2773 contact dermatitis ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8804124 Prdx6 peroxiredoxin 6 gene DOID:3755 antithrombin III deficiency ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8804124 Prdx6 peroxiredoxin 6 gene DOID:630 genetic disease ISO RGD:1602898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804124 Prdx6 peroxiredoxin 6 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8804124 Prdx6 peroxiredoxin 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8804124 Prdx6 peroxiredoxin 6 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1602898 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:25171874|REF_RGD_ID:26884462 8804124 Prdx6 peroxiredoxin 6 gene DOID:9002231 Fetal Growth Retardation ISO RGD:71005 D RGD:9068941 20200609 RGD protein:decreased expression:placenta PMID:25171874|REF_RGD_ID:26884462 8804124 Prdx6 peroxiredoxin 6 gene DOID:9004009 Reperfusion Injury ISO RGD:736132 D RGD:9068941 20200609 RGD PMID:16766642|REF_RGD_ID:1580710 8804124 Prdx6 peroxiredoxin 6 gene DOID:9005172 Lung Neoplasms ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23692979 8804124 Prdx6 peroxiredoxin 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:1602898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8804124 Prdx6 peroxiredoxin 6 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8804124 Prdx6 peroxiredoxin 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8804137 Krt76 keratin 76 gene DOID:630 genetic disease ISO RGD:1605387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804150 Nphp1 nephrocystin 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1317734 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 8804150 Nphp1 nephrocystin 1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1317734 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:32483926|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 8804150 Nphp1 nephrocystin 1 gene DOID:0050777 Joubert syndrome ISO RGD:1317734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:23559409|PMID:28002029|PMID:28492532|PMID:34090716 8804150 Nphp1 nephrocystin 1 gene DOID:0050777 Joubert syndrome ISO RGD:1317734 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:23559409|PMID:25741868|PMID:28002029|PMID:28492532|PMID:34090716 8804150 Nphp1 nephrocystin 1 gene DOID:0050795 cone dystrophy ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:28041643 8804150 Nphp1 nephrocystin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 8804150 Nphp1 nephrocystin 1 gene DOID:0080205 CAKUT ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 8804150 Nphp1 nephrocystin 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1317734 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 8804150 Nphp1 nephrocystin 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 PMID:24746959|PMID:25741868|PMID:28492532 8804150 Nphp1 nephrocystin 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1317734 D RGD:7240710 20180130 OMIM 8804150 Nphp1 nephrocystin 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1317734 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:10620543|PMID:10712196|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31822006|PMID:32483926|PMID:33193692|PMID:34090716|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 8804150 Nphp1 nephrocystin 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1317734 D RGD:7240710 20180130 OMIM 8804150 Nphp1 nephrocystin 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1317734 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:10620543|PMID:10712196|PMID:10839884|PMID:10980528|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31822006|PMID:32483926|PMID:33193692|PMID:33532864|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 8804150 Nphp1 nephrocystin 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1317734 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 8804150 Nphp1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098 8804150 Nphp1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098 8804150 Nphp1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098 8804150 Nphp1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098 8804150 Nphp1 nephrocystin 1 gene DOID:12712 nephronophthisis ISO RGD:1317734 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10620543|PMID:10712196|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31822006|PMID:32173348|PMID:32483926|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 8804150 Nphp1 nephrocystin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1317734 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532 8804150 Nphp1 nephrocystin 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10839884|PMID:15138899|PMID:25741868|PMID:28492532 8804150 Nphp1 nephrocystin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316858|RGD:732435|RGD:1319511|RGD:1603660 D RGD:9068941 20200609 RGD PMID:24746959|REF_RGD_ID:11352646 8804150 Nphp1 nephrocystin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605944 D RGD:9068941 20200609 RGD PMID:24746959|REF_RGD_ID:11352646 8804150 Nphp1 nephrocystin 1 gene DOID:557 kidney disease ISO RGD:1317734 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 8804150 Nphp1 nephrocystin 1 gene DOID:630 genetic disease ISO RGD:1317734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16762963|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24033266|PMID:25268133|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27491411|PMID:28492532|PMID:28624958|PMID:30773290|PMID:31822006|PMID:33193692 8804150 Nphp1 nephrocystin 1 gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1317734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:24746959|PMID:25741868|PMID:28492532 8804150 Nphp1 nephrocystin 1 gene DOID:9004365 Senior-Loken Syndrome 1 ISO RGD:1317734 D RGD:7240710 20190327 OMIM 8804150 Nphp1 nephrocystin 1 gene DOID:9004365 Senior-Loken Syndrome 1 ISO RGD:1317734 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 1 PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:32483926|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524 8804211 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:0070060 autosomal dominant intellectual developmental disorder 30 ISO RGD:732984 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30 PMID:25741868 8804211 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:10591 pre-eclampsia ISO RGD:732984 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8804211 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:10763 hypertension ISO RGD:621303 D RGD:9068941 20200609 RGD mRNA:increased expression:vascular associated smooth muscle cell PMID:20137670|REF_RGD_ID:2317726 8804211 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:10763 hypertension ISO RGD:732984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430479 8804211 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:11714 gestational diabetes ISO RGD:732984 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8804211 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:11836 clubfoot ISO RGD:732984 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 8804211 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:3393 coronary artery disease ISO RGD:732984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22751097 8804211 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:630 genetic disease ISO RGD:732984 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8804211 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:83 cataract ISO RGD:732984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15003327 8804211 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:9001141 Autosomal Dominant Intellectual Developmental Disorder 66 ISO RGD:732984 D RGD:7240710 20220629 OMIM 8804211 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:9001141 Autosomal Dominant Intellectual Developmental Disorder 66 ISO RGD:732984 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 66 PMID:25741868|PMID:35358416 8804211 Atp2b1 ATPase plasma membrane Ca2+ transporting 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732984 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:35358416 8804250 Pitpnm1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:1059 intellectual disability ISO RGD:1315482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8804250 Pitpnm1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:5419 schizophrenia ISO RGD:1315482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8804250 Pitpnm1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:630 genetic disease ISO RGD:1315482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804250 Pitpnm1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1315482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8804250 Pitpnm1 phosphatidylinositol transfer protein membrane associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1315482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8804283 Shroom1 shroom family member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8804283 Shroom1 shroom family member 1 gene DOID:0080600 COVID-19 ISO RGD:1605292 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8804283 Shroom1 shroom family member 1 gene DOID:630 genetic disease ISO RGD:1605292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804283 Shroom1 shroom family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8804283 Shroom1 shroom family member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8804296 Troap trophinin associated protein gene DOID:0080600 COVID-19 ISO RGD:1315734 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8804296 Troap trophinin associated protein gene DOID:630 genetic disease ISO RGD:1315734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804296 Troap trophinin associated protein gene DOID:684 hepatocellular carcinoma ISO RGD:1315734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:0050908 myelodysplastic syndrome ISO RGD:1622294 D RGD:9068941 20200609 RGD PMID:18952892|REF_RGD_ID:9588548 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:0060041 autism spectrum disorder ISO RGD:1320090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:0060318 acute promyelocytic leukemia severity ISO RGD:1320090 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood, bone marrow, mononuclear cells (human) PMID:24796963|REF_RGD_ID:9588539 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1320090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 PMID:25741868|PMID:28492532 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:10283 prostate cancer ISO RGD:1320090 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:1240 leukemia ISO RGD:1320090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18818388 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:12849 autistic disorder ISO RGD:1320090 D RGD:9068941 20200609 RGD DNA:insertions, deletions:multiple (human) PMID:25284784|REF_RGD_ID:9588547 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:1612 breast cancer ISO RGD:1320090 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:23754336|REF_RGD_ID:9588236 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:1826 epilepsy ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:31079897 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:4362 cervical cancer ISO RGD:1320090 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25172963|REF_RGD_ID:9588553 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320090 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, T cell, CD4+ (human) PMID:16046540|REF_RGD_ID:9588555 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:630 genetic disease ISO RGD:1320090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31079897|PMID:33004838 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:8692 myeloid leukemia ISO RGD:1320090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18854576 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:9001969 O'Donnell-Luria-Rodan Syndrome ISO RGD:1320090 D RGD:7240710 20190918 OMIM 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:9001969 O'Donnell-Luria-Rodan Syndrome ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebellar vermis | ClinVar Annotator: match by term: KMT2E-related condition | ClinVar Annotator: match by term: O'Donnell-Luria-Rodan syndrome PMID:25741868|PMID:28492532|PMID:31079897 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:9002704 Leukoencephalopathies ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8804326 Kmt2e lysine methyltransferase 2E (inactive) gene DOID:9008086 Developmental Disabilities ISO RGD:1320090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8804357 Znf691 zinc finger protein 691 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8804357 Znf691 zinc finger protein 691 gene DOID:630 genetic disease ISO RGD:1603045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804376 Akap7 A-kinase anchoring protein 7 gene DOID:303 substance-related disorder ISO RGD:1350760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8804376 Akap7 A-kinase anchoring protein 7 gene DOID:630 genetic disease ISO RGD:1350760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804450 LOC102019456 cytochrome c oxidase assembly protein COX11, mitochondrial gene DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 ISO RGD:1320366 D RGD:7240710 20230505 OMIM 8804450 LOC102019456 cytochrome c oxidase assembly protein COX11, mitochondrial gene DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 ISO RGD:1320366 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 23 PMID:36030551 8804450 LOC102019456 cytochrome c oxidase assembly protein COX11, mitochondrial gene DOID:630 genetic disease ISO RGD:1320366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804462 Selenov selenoprotein V gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603489 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8804462 Selenov selenoprotein V gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8804462 Selenov selenoprotein V gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8804462 Selenov selenoprotein V gene DOID:2340 craniosynostosis ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8804462 Selenov selenoprotein V gene DOID:630 genetic disease ISO RGD:1603489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804462 Selenov selenoprotein V gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8804462 Selenov selenoprotein V gene DOID:9269 maple syrup urine disease ISO RGD:1603489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8804462 Selenov selenoprotein V gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8804479 Armc9 armadillo repeat containing 9 gene DOID:0060476 Perlman syndrome ISO RGD:1604597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8804479 Armc9 armadillo repeat containing 9 gene DOID:0080275 Joubert syndrome 30 ISO RGD:1604597 D RGD:7240710 20190315 OMIM 8804479 Armc9 armadillo repeat containing 9 gene DOID:0080275 Joubert syndrome 30 ISO RGD:1604597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 30 PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28625504|PMID:29159890|PMID:31474318|PMID:9536098 8804479 Armc9 armadillo repeat containing 9 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604597 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318 8804479 Armc9 armadillo repeat containing 9 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1604597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8804479 Armc9 armadillo repeat containing 9 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1604597 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318 8804479 Armc9 armadillo repeat containing 9 gene DOID:630 genetic disease ISO RGD:1604597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8804479 Armc9 armadillo repeat containing 9 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1604597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 8804517 Nos1 nitric oxide synthase 1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25511929 8804517 Nos1 nitric oxide synthase 1 gene DOID:0050700 cardiomyopathy ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:cardiomyocyte PMID:17721248|REF_RGD_ID:1642134 8804517 Nos1 nitric oxide synthase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:619551 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8804517 Nos1 nitric oxide synthase 1 gene DOID:0080855 Parkinsonism ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23967645|REF_RGD_ID:7257596 8804517 Nos1 nitric oxide synthase 1 gene DOID:0080998 acute necrotizing pancreatitis treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23300603|REF_RGD_ID:7257665 8804517 Nos1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:619551 D RGD:9068941 20200609 RGD PMID:10964481|PMID:12384247|REF_RGD_ID:13824976|REF_RGD_ID:13824978 8804517 Nos1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:17418914|REF_RGD_ID:13824975 8804517 Nos1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease no_association ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:SNP:exon:-84G>A (human) PMID:17418914|REF_RGD_ID:13824975 8804517 Nos1 nitric oxide synthase 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:21098972|REF_RGD_ID:13824974 8804517 Nos1 nitric oxide synthase 1 gene DOID:10762 portal hypertension treatment ISO RGD:3184 D RGD:9068941 20200609 RGD associated with liver cirrhosis PMID:10727442|REF_RGD_ID:13824993 8804517 Nos1 nitric oxide synthase 1 gene DOID:10763 hypertension ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:15775788|PMID:15913838|PMID:16093913|PMID:20494920|REF_RGD_ID:1581141|REF_RGD_ID:1581142|REF_RGD_ID:1581143|REF_RGD_ID:5132600 8804517 Nos1 nitric oxide synthase 1 gene DOID:10763 hypertension ISO RGD:3184 D RGD:9068941 20200609 RGD mRNA:decreased expression:bladder, penis PMID:17574276|REF_RGD_ID:1642127 8804517 Nos1 nitric oxide synthase 1 gene DOID:10763 hypertension treatment ISO RGD:3184 D RGD:9068941 20230824 RGD PMID:23201071|PMID:31489946|REF_RGD_ID:401793758|REF_RGD_ID:7257668 8804517 Nos1 nitric oxide synthase 1 gene DOID:10941 intracranial aneurysm ISO RGD:10991 D RGD:9068941 20200609 RGD PMID:21321533|REF_RGD_ID:5131897 8804517 Nos1 nitric oxide synthase 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:619551 D RGD:9068941 20200609 RGD PMID:9542584|REF_RGD_ID:13825135 8804517 Nos1 nitric oxide synthase 1 gene DOID:1184 nephrotic syndrome ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:12853118|REF_RGD_ID:1642133 8804517 Nos1 nitric oxide synthase 1 gene DOID:12577 urethral obstruction ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:23766828|REF_RGD_ID:7257604 8804517 Nos1 nitric oxide synthase 1 gene DOID:12638 hypertrophic pyloric stenosis ISO RGD:10991 D RGD:9068941 20220825 MouseDO OMIM:179010 | OMIM:300711 | OMIM:610260 | OMIM:612017 | OMIM:612525 8804517 Nos1 nitric oxide synthase 1 gene DOID:12935 alcoholic cardiomyopathy ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle, membrane PMID:17607508|REF_RGD_ID:1642138 8804517 Nos1 nitric oxide synthase 1 gene DOID:13025 retinopathy of prematurity ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:23204802|REF_RGD_ID:7257667 8804517 Nos1 nitric oxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19763802|REF_RGD_ID:5132590 8804517 Nos1 nitric oxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:neocortex PMID:17083474|REF_RGD_ID:1642151 8804517 Nos1 nitric oxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10206825|PMID:10564534 8804517 Nos1 nitric oxide synthase 1 gene DOID:14330 Parkinson's disease ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26383258 8804517 Nos1 nitric oxide synthase 1 gene DOID:14330 Parkinson's disease ISO RGD:619551 D RGD:9068941 20200609 RGD PMID:11809160|REF_RGD_ID:1358519 8804517 Nos1 nitric oxide synthase 1 gene DOID:14330 Parkinson's disease ISO RGD:619551 D RGD:9068941 20200609 RGD RNA, protein:increased expression:neutrophil PMID:11020342|REF_RGD_ID:5132632 8804517 Nos1 nitric oxide synthase 1 gene DOID:1470 major depressive disorder ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:25001963|REF_RGD_ID:13825137 8804517 Nos1 nitric oxide synthase 1 gene DOID:1485 cystic fibrosis ISO RGD:619551 D RGD:9068941 20200609 RGD PMID:11890749|REF_RGD_ID:5132868 8804517 Nos1 nitric oxide synthase 1 gene DOID:1485 cystic fibrosis ISO RGD:619551 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:12064512|REF_RGD_ID:5132865 8804517 Nos1 nitric oxide synthase 1 gene DOID:1485 cystic fibrosis disease_progression ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeats:5'utr PMID:14760158|REF_RGD_ID:5132627 8804517 Nos1 nitric oxide synthase 1 gene DOID:150 disease of mental health ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17426488 8804517 Nos1 nitric oxide synthase 1 gene DOID:1591 renovascular hypertension ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16788145|REF_RGD_ID:1642130 8804517 Nos1 nitric oxide synthase 1 gene DOID:1596 depressive disorder ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17854383 8804517 Nos1 nitric oxide synthase 1 gene DOID:1596 depressive disorder treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:20571741|REF_RGD_ID:13824995 8804517 Nos1 nitric oxide synthase 1 gene DOID:1824 status epilepticus ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20149694 8804517 Nos1 nitric oxide synthase 1 gene DOID:1875 impotence ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Urethral Obstruction;protein:decreased expression:penis erectile tissue PMID:23535456|REF_RGD_ID:7257656 8804517 Nos1 nitric oxide synthase 1 gene DOID:1875 impotence treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23522997|REF_RGD_ID:7257657 8804517 Nos1 nitric oxide synthase 1 gene DOID:1875 impotence treatment ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23698784|REF_RGD_ID:7244246 8804517 Nos1 nitric oxide synthase 1 gene DOID:2074 intestinal perforation ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18030227 8804517 Nos1 nitric oxide synthase 1 gene DOID:224 transient cerebral ischemia ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:dentate gyrus PMID:23806217|REF_RGD_ID:7257600 8804517 Nos1 nitric oxide synthase 1 gene DOID:231 motor neuron disease ISO RGD:619551 D RGD:9068941 20200609 RGD protein:decreased expression;motor neuron PMID:12200626|REF_RGD_ID:5132629 8804517 Nos1 nitric oxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17451676|REF_RGD_ID:1642142 8804517 Nos1 nitric oxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21718970|REF_RGD_ID:6480433 8804517 Nos1 nitric oxide synthase 1 gene DOID:2349 arteriosclerosis ISO RGD:10991 D RGD:9068941 20200609 RGD PMID:16627802|REF_RGD_ID:1642131 8804517 Nos1 nitric oxide synthase 1 gene DOID:2560 morphine dependence ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989510 8804517 Nos1 nitric oxide synthase 1 gene DOID:2786 cerebellar disease ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25511929 8804517 Nos1 nitric oxide synthase 1 gene DOID:2841 asthma ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeats: : PMID:10673365|REF_RGD_ID:5132869 8804517 Nos1 nitric oxide synthase 1 gene DOID:2841 asthma ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeats:exon PMID:10833424|REF_RGD_ID:5132860 8804517 Nos1 nitric oxide synthase 1 gene DOID:2841 asthma susceptibility ISO RGD:619551 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:14767694|PMID:20609134|REF_RGD_ID:5132615|REF_RGD_ID:5132863 8804517 Nos1 nitric oxide synthase 1 gene DOID:3021 acute kidney failure ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:14531809|REF_RGD_ID:13825139 8804517 Nos1 nitric oxide synthase 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:619551 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:19797159|REF_RGD_ID:5132607 8804517 Nos1 nitric oxide synthase 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:619551 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:12816735|REF_RGD_ID:5132628 8804517 Nos1 nitric oxide synthase 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 8804517 Nos1 nitric oxide synthase 1 gene DOID:5419 schizophrenia ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:20802999|REF_RGD_ID:5131923 8804517 Nos1 nitric oxide synthase 1 gene DOID:5419 schizophrenia ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 8804517 Nos1 nitric oxide synthase 1 gene DOID:6000 congestive heart failure ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:15466641|PMID:23832698|REF_RGD_ID:1581144|REF_RGD_ID:7257598 8804517 Nos1 nitric oxide synthase 1 gene DOID:630 genetic disease ISO RGD:619551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804517 Nos1 nitric oxide synthase 1 gene DOID:670 amphetamine abuse ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542708 8804517 Nos1 nitric oxide synthase 1 gene DOID:783 end stage renal disease ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex PMID:17200156|REF_RGD_ID:1642147 8804517 Nos1 nitric oxide synthase 1 gene DOID:783 end stage renal disease treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23185775|REF_RGD_ID:7257669 8804517 Nos1 nitric oxide synthase 1 gene DOID:863 nervous system disease ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9495865 8804517 Nos1 nitric oxide synthase 1 gene DOID:8947 diabetic retinopathy ISO RGD:3184 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:17545029|REF_RGD_ID:1642141 8804517 Nos1 nitric oxide synthase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:20633123|REF_RGD_ID:5131936 8804517 Nos1 nitric oxide synthase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3184 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:19291395|REF_RGD_ID:5132595 8804517 Nos1 nitric oxide synthase 1 gene DOID:9000564 Prehypertension ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased expression:stellate interneuron PMID:23172925|REF_RGD_ID:7257670 8804517 Nos1 nitric oxide synthase 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10991 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19286931|REF_RGD_ID:5132864 8804517 Nos1 nitric oxide synthase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20726721 8804517 Nos1 nitric oxide synthase 1 gene DOID:9000972 Fever ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9495865 8804517 Nos1 nitric oxide synthase 1 gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:3184 D RGD:9068941 20230824 RGD PMID:31489946|REF_RGD_ID:401793758 8804517 Nos1 nitric oxide synthase 1 gene DOID:9001488 Human Influenza ISO RGD:10991 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:9552178|REF_RGD_ID:5132870 8804517 Nos1 nitric oxide synthase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:10966937|REF_RGD_ID:13824991 8804517 Nos1 nitric oxide synthase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:23548923|REF_RGD_ID:7257655 8804517 Nos1 nitric oxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23909597|REF_RGD_ID:7257597 8804517 Nos1 nitric oxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19300402 8804517 Nos1 nitric oxide synthase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3184 D RGD:9068941 20200609 RGD associated with hyperinsulinemia; protein:decreased expression:placenta PMID:19709742|REF_RGD_ID:5132592 8804517 Nos1 nitric oxide synthase 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25511929 8804517 Nos1 nitric oxide synthase 1 gene DOID:9002669 Hypoxia ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10956627 8804517 Nos1 nitric oxide synthase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10791088|PMID:9436549 8804517 Nos1 nitric oxide synthase 1 gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:10991 D RGD:9068941 20200609 RGD PMID:14761684|REF_RGD_ID:13825130 8804517 Nos1 nitric oxide synthase 1 gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:14761684|REF_RGD_ID:13825130 8804517 Nos1 nitric oxide synthase 1 gene DOID:9003919 Urination Disorders ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9142130 8804517 Nos1 nitric oxide synthase 1 gene DOID:9003936 Cardiomegaly ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17673519|REF_RGD_ID:1642136 8804517 Nos1 nitric oxide synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17451676|REF_RGD_ID:1642142 8804517 Nos1 nitric oxide synthase 1 gene DOID:9004370 Infantile Hypertrophic Pyloric Stenosis 1 ISO RGD:619551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyloric stenosis, infantile hypertrophic, 1 PMID:14757827|PMID:19851341 8804517 Nos1 nitric oxide synthase 1 gene DOID:9004484 Sepsis ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17191663|REF_RGD_ID:1642148 8804517 Nos1 nitric oxide synthase 1 gene DOID:9004649 Heat Stroke ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16950411|REF_RGD_ID:1642129 8804517 Nos1 nitric oxide synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3184 D RGD:9068941 20200609 RGD protein:decreased dimerization:stomach PMID:17347455|REF_RGD_ID:1642144 8804517 Nos1 nitric oxide synthase 1 gene DOID:9005968 Neuralgia treatment ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:23342771|REF_RGD_ID:7257658 8804517 Nos1 nitric oxide synthase 1 gene DOID:9006062 Nervous System Trauma ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10531423 8804517 Nos1 nitric oxide synthase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17913382|REF_RGD_ID:5130174 8804517 Nos1 nitric oxide synthase 1 gene DOID:9007096 Stroke ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:19408167|REF_RGD_ID:5132594 8804517 Nos1 nitric oxide synthase 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16344403 8804517 Nos1 nitric oxide synthase 1 gene DOID:9007877 Fetal Hypoxia ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:17310378|REF_RGD_ID:1642145 8804517 Nos1 nitric oxide synthase 1 gene DOID:9007993 Dehydration ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16052497|REF_RGD_ID:13825136 8804517 Nos1 nitric oxide synthase 1 gene DOID:9007996 End Stage Liver Disease ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15025246 8804517 Nos1 nitric oxide synthase 1 gene DOID:9008023 Memory Disorders ISO RGD:3184 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:17549628|REF_RGD_ID:1642140 8804517 Nos1 nitric oxide synthase 1 gene DOID:9164 achalasia ISO RGD:10991 D RGD:9068941 20220825 MouseDO OMIM:200400 8804517 Nos1 nitric oxide synthase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16323284|REF_RGD_ID:1581689 8804517 Nos1 nitric oxide synthase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:619551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666113 8804517 Nos1 nitric oxide synthase 1 gene DOID:9970 obesity ISO RGD:3184 D RGD:9068941 20200609 RGD PMID:16316351|REF_RGD_ID:1642132 8804558 Apoa4 apolipoprotein A4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8804558 Apoa4 apolipoprotein A4 gene DOID:0060180 colitis ISO RGD:737553 D RGD:9068941 20200609 RGD human protein in mouse model PMID:15254593|REF_RGD_ID:5685667 8804558 Apoa4 apolipoprotein A4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8804558 Apoa4 apolipoprotein A4 gene DOID:0080690 RASopathy ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8804558 Apoa4 apolipoprotein A4 gene DOID:0080958 primary hypoalphalipoproteinemia 2 ISO RGD:737553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-I deficiency PMID:2506176|PMID:6800349 8804558 Apoa4 apolipoprotein A4 gene DOID:0081267 graft-versus-host disease ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood serum (human) PMID:19379511|REF_RGD_ID:5685691 8804558 Apoa4 apolipoprotein A4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8804558 Apoa4 apolipoprotein A4 gene DOID:0111123 nephronophthisis 15 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8804558 Apoa4 apolipoprotein A4 gene DOID:0111971 immunodeficiency 18 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8804558 Apoa4 apolipoprotein A4 gene DOID:0111972 immunodeficiency 19 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8804558 Apoa4 apolipoprotein A4 gene DOID:0111973 immunodeficiency 17 ISO RGD:737553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8804558 Apoa4 apolipoprotein A4 gene DOID:1059 intellectual disability ISO RGD:737553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8804558 Apoa4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease ISO RGD:734420 D RGD:9068941 20200609 RGD PMID:21356380|REF_RGD_ID:5685638 8804558 Apoa4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q360H (human) PMID:9272683|REF_RGD_ID:5685681 8804558 Apoa4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:snp, haplotype:cds:p.S147N (rs5104) (human) PMID:16013913|REF_RGD_ID:5685661 8804558 Apoa4 apolipoprotein A4 gene DOID:10652 Alzheimer's disease no_association ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q360H (human) PMID:10559562|REF_RGD_ID:5685682 8804558 Apoa4 apolipoprotein A4 gene DOID:12842 Guillain-Barre syndrome ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:18343991|REF_RGD_ID:5685658 8804558 Apoa4 apolipoprotein A4 gene DOID:12858 Huntington's disease ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:21297956|REF_RGD_ID:5147768 8804558 Apoa4 apolipoprotein A4 gene DOID:1287 cardiovascular system disease ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:blood plasma (human) PMID:21569504|REF_RGD_ID:5685637 8804558 Apoa4 apolipoprotein A4 gene DOID:1389 polyneuropathy ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:19589605|REF_RGD_ID:5685648 8804558 Apoa4 apolipoprotein A4 gene DOID:1470 major depressive disorder ISO RGD:2132 D RGD:9068941 20200609 RGD protein:increased expression:blood serum (rat) PMID:20580919|REF_RGD_ID:5128563 8804558 Apoa4 apolipoprotein A4 gene DOID:1686 glaucoma ISO RGD:737553 D RGD:9068941 20200609 RGD Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human) PMID:21078314|REF_RGD_ID:5685641 8804558 Apoa4 apolipoprotein A4 gene DOID:1936 atherosclerosis ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15822908 8804558 Apoa4 apolipoprotein A4 gene DOID:2355 anemia ISO RGD:734420 D RGD:9068941 20200609 RGD associated with Inflammation; protein:increased expression:blood plasma (mouse) PMID:22146476|REF_RGD_ID:5685688 8804558 Apoa4 apolipoprotein A4 gene DOID:2378 relapsing-remitting multiple sclerosis onset ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid (human) PMID:19383442|REF_RGD_ID:5685649 8804558 Apoa4 apolipoprotein A4 gene DOID:5327 retinal detachment ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor (human) PMID:19081814|REF_RGD_ID:5685692 8804558 Apoa4 apolipoprotein A4 gene DOID:5419 schizophrenia ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 8804558 Apoa4 apolipoprotein A4 gene DOID:5419 schizophrenia ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid (human) PMID:12836058|REF_RGD_ID:5685679 8804558 Apoa4 apolipoprotein A4 gene DOID:574 peripheral nervous system disease ISO RGD:734420 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:2050689|REF_RGD_ID:5685702 8804558 Apoa4 apolipoprotein A4 gene DOID:5844 myocardial infarction no_association ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:mutation:intron:IVS2 (human) PMID:10428310|REF_RGD_ID:1578442 8804558 Apoa4 apolipoprotein A4 gene DOID:5844 myocardial infarction susceptibility ISO RGD:737553 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.Q360H (human) PMID:7958503|REF_RGD_ID:5685678 8804558 Apoa4 apolipoprotein A4 gene DOID:630 genetic disease ISO RGD:737553 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532 8804558 Apoa4 apolipoprotein A4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737553 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 8804558 Apoa4 apolipoprotein A4 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:18061280|REF_RGD_ID:5685659 8804558 Apoa4 apolipoprotein A4 gene DOID:7148 rheumatoid arthritis ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood serum (human) PMID:20367977|REF_RGD_ID:5685646 8804558 Apoa4 apolipoprotein A4 gene DOID:784 chronic kidney disease disease_progression ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood plasma (human) PMID:21569504|REF_RGD_ID:5685637 8804558 Apoa4 apolipoprotein A4 gene DOID:8577 ulcerative colitis ISO RGD:737553 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 8804558 Apoa4 apolipoprotein A4 gene DOID:8577 ulcerative colitis severity ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q360H (human) PMID:17206692|REF_RGD_ID:5685660 8804558 Apoa4 apolipoprotein A4 gene DOID:8778 Crohn's disease severity ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:blood plasma (human) PMID:17206692|REF_RGD_ID:5685660 8804558 Apoa4 apolipoprotein A4 gene DOID:8805 intermediate coronary syndrome ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:blood plasma (human) PMID:20367977|REF_RGD_ID:5685646 8804558 Apoa4 apolipoprotein A4 gene DOID:8947 diabetic retinopathy ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor (human) PMID:19081814|REF_RGD_ID:5685692 8804558 Apoa4 apolipoprotein A4 gene DOID:9000528 Coronary Disease no_association ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T347S (human) PMID:9013087|REF_RGD_ID:5685683 8804558 Apoa4 apolipoprotein A4 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737553 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T347S (human) PMID:12676816|REF_RGD_ID:1578411 8804558 Apoa4 apolipoprotein A4 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2132 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:2120218|REF_RGD_ID:2311210 8804558 Apoa4 apolipoprotein A4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8804558 Apoa4 apolipoprotein A4 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8804558 Apoa4 apolipoprotein A4 gene DOID:9002457 Experimental Arthritis ISO RGD:2132 D RGD:9068941 20200609 RGD protein:decreased expression:blood serum (rat) PMID:10892728|REF_RGD_ID:5685694 8804558 Apoa4 apolipoprotein A4 gene DOID:9004083 Familial Pancreatic Carcinoma ISO RGD:737553 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas, carcinoma (human) PMID:16815451|REF_RGD_ID:5685662 8804558 Apoa4 apolipoprotein A4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8804558 Apoa4 apolipoprotein A4 gene DOID:9005372 Inflammation ISO RGD:2132 D RGD:9068941 20200609 RGD protein:decreased expression:blood serum (rat) PMID:10892728|REF_RGD_ID:5685694 8804558 Apoa4 apolipoprotein A4 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:737553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 8804558 Apoa4 apolipoprotein A4 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16372267|REF_RGD_ID:5685665 8804558 Apoa4 apolipoprotein A4 gene DOID:9006190 Chronic Pancreatitis ISO RGD:737553 D RGD:9068941 20200609 RGD protein:decreased expression:blood plasma (human) PMID:11555832|REF_RGD_ID:5685680 8804558 Apoa4 apolipoprotein A4 gene DOID:9006599 Hypertriglyceridemia ISO RGD:737553 D RGD:9068941 20200609 RGD human gene in mouse model PMID:2167514|REF_RGD_ID:5685672 8804558 Apoa4 apolipoprotein A4 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood plasma (human) PMID:226830|REF_RGD_ID:5685673 8804558 Apoa4 apolipoprotein A4 gene DOID:9007661 Dwarfism ISO RGD:737553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8804558 Apoa4 apolipoprotein A4 gene DOID:9008103 Seasonal Allergic Rhinitis resistance ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:blood serum (human) PMID:20810159|REF_RGD_ID:5685642 8804558 Apoa4 apolipoprotein A4 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:737553 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 8804558 Apoa4 apolipoprotein A4 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:737553 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor (human) PMID:19081814|REF_RGD_ID:5685692 8804589 Hspb2 heat shock protein family B (small) member 2 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:731772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8804589 Hspb2 heat shock protein family B (small) member 2 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:731772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 8804589 Hspb2 heat shock protein family B (small) member 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:731772 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8804589 Hspb2 heat shock protein family B (small) member 2 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 8804589 Hspb2 heat shock protein family B (small) member 2 gene DOID:1059 intellectual disability ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8804589 Hspb2 heat shock protein family B (small) member 2 gene DOID:12704 ataxia telangiectasia ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8804589 Hspb2 heat shock protein family B (small) member 2 gene DOID:630 genetic disease ISO RGD:731772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804589 Hspb2 heat shock protein family B (small) member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8804589 Hspb2 heat shock protein family B (small) member 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:731772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8804597 Mettl24 methyltransferase like 24 gene DOID:630 genetic disease ISO RGD:1343913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:0070392 developmental and epileptic encephalopathy 106 ISO RGD:2298813 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 106 PMID:25741868|PMID:28492532|PMID:33473208 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:2298813 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:25741868|PMID:28492532|PMID:33473208 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:0111367 Beukes hip dysplasia ISO RGD:2298813 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Hip dysplasia, Beukes type PMID:25741868 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:1059 intellectual disability ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:33473208 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:10907 microcephaly ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:33473208 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:12849 autistic disorder ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:12930 dilated cardiomyopathy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:14784 olivopontocerebellar atrophy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:33473208 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:1826 epilepsy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532|PMID:33473208 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:2234 focal epilepsy ISO RGD:2298813 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:33473208 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:630 genetic disease ISO RGD:2298813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:9001793 Generalized Epilepsy ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:33473208 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:9002016 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ISO RGD:2298813 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type PMID:25741868 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:9006534 Nervous System Malformations ISO RGD:2298813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:33473208 8804605 Cfap96 cilia and flagella associated protein 96 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:2298813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8804625 Sim1 SIM bHLH transcription factor 1 gene DOID:0050581 brachydactyly ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly 8804625 Sim1 SIM bHLH transcription factor 1 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schaaf-Yang syndrome 8804625 Sim1 SIM bHLH transcription factor 1 gene DOID:10907 microcephaly ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8804625 Sim1 SIM bHLH transcription factor 1 gene DOID:13501 Moebius syndrome ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:2152513|PMID:23778139|PMID:25234154|PMID:25741868|PMID:28492532 8804625 Sim1 SIM bHLH transcription factor 1 gene DOID:4195 hyperglycemia ISO RGD:1320567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056790 8804625 Sim1 SIM bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320567 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:2152513|PMID:23778139|PMID:25234154|PMID:25741868|PMID:28492532 8804625 Sim1 SIM bHLH transcription factor 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1320567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SIM1-associated metabolic syndrome 8804625 Sim1 SIM bHLH transcription factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1320567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 8804625 Sim1 SIM bHLH transcription factor 1 gene DOID:9351 diabetes mellitus ISO RGD:1320567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:16924270|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:25234154|PMID:25741868|PMID:28492532 8804625 Sim1 SIM bHLH transcription factor 1 gene DOID:9970 obesity ISO RGD:1320567 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30991789 8804641 Ly6h lymphocyte antigen 6 family member H gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1323593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 8804641 Ly6h lymphocyte antigen 6 family member H gene DOID:4621 holoprosencephaly ISO RGD:1323593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8804641 Ly6h lymphocyte antigen 6 family member H gene DOID:630 genetic disease ISO RGD:1323593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804657 Arhgap27 Rho GTPase activating protein 27 gene DOID:630 genetic disease ISO RGD:1346833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:0070392 developmental and epileptic encephalopathy 106 ISO RGD:1605068 D RGD:7240710 20220921 OMIM 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:0070392 developmental and epileptic encephalopathy 106 ISO RGD:1605068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 106 PMID:25741868|PMID:28492532|PMID:33473208 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1605068 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:25741868|PMID:28492532|PMID:33473208 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:0111367 Beukes hip dysplasia ISO RGD:1605068 D RGD:7240710 20180130 OMIM 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:0111367 Beukes hip dysplasia ISO RGD:1605068 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hip dysplasia, Beukes type PMID:21228277|PMID:2389793|PMID:25741868|PMID:26428751|PMID:28492532|PMID:28892125 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:1059 intellectual disability ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:33473208 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:10907 microcephaly ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:33473208 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:12849 autistic disorder ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:14784 olivopontocerebellar atrophy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:33473208 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:1826 epilepsy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532|PMID:33473208 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:2234 focal epilepsy ISO RGD:1605068 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868|PMID:28492532|PMID:33473208 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:630 genetic disease ISO RGD:1605068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:33473208 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:9002016 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ISO RGD:1605068 D RGD:7240710 20190724 OMIM 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:9002016 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ISO RGD:1605068 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type PMID:21228277|PMID:25741868|PMID:28892125|PMID:32755715 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1605068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:33473208 8804680 Ufsp2 UFM1 specific peptidase 2 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1605068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8804705 Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8804705 Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:0060476 Perlman syndrome ISO RGD:1312206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:25741868 8804705 Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:630 genetic disease ISO RGD:1312206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804705 Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease gene DOID:9538 multiple myeloma ISO RGD:1312206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8804737 Smim15 small integral membrane protein 15 gene DOID:630 genetic disease ISO RGD:2293892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804737 Smim15 small integral membrane protein 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8804791 Per3 period circadian regulator 3 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1352533 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:11306557|REF_RGD_ID:1358557 8804791 Per3 period circadian regulator 3 gene DOID:0060001 withdrawal disorder ISO RGD:1352533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20738730 8804791 Per3 period circadian regulator 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1352533 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8804791 Per3 period circadian regulator 3 gene DOID:0080600 COVID-19 ISO RGD:1352533 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8804791 Per3 period circadian regulator 3 gene DOID:0110011 advanced sleep phase syndrome 1 ISO RGD:1352533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8804791 Per3 period circadian regulator 3 gene DOID:0110013 advanced sleep phase syndrome 3 ISO RGD:1352533 D RGD:7240710 20190315 OMIM 8804791 Per3 period circadian regulator 3 gene DOID:0110013 advanced sleep phase syndrome 3 ISO RGD:1352533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Advanced sleep phase syndrome 3 PMID:25741868|PMID:26903630 8804791 Per3 period circadian regulator 3 gene DOID:630 genetic disease ISO RGD:1352533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8804791 Per3 period circadian regulator 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:1352533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 8804791 Per3 period circadian regulator 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8804791 Per3 period circadian regulator 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1352533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20625127 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1349504 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:25741868|PMID:26619011 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1349504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:11476 osteoporosis ISO RGD:1349504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:363 uterine cancer ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:630 genetic disease ISO RGD:1349504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1349504 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:26619011 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1349504 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:22158538|PMID:23029227|PMID:23861105|PMID:24498085|PMID:25741868|PMID:26619011 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9263 homocystinuria ISO RGD:1349504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8804822 U2af1 U2 small nuclear RNA auxiliary factor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1349504 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8804840 Rap1b RAP1B, member of RAS oncogene family gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620577 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:12196513|REF_RGD_ID:10041023 8804840 Rap1b RAP1B, member of RAS oncogene family gene DOID:9007648 Thrombocytopenia 11 ISO RGD:736930 D RGD:7240710 20240110 OMIM 8804840 Rap1b RAP1B, member of RAS oncogene family gene DOID:9007648 Thrombocytopenia 11 ISO RGD:736930 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies PMID:12213964|PMID:25741868|PMID:25935485|PMID:29235861|PMID:32627184|PMID:35451551|PMID:37850357 8804851 Mpi mannose phosphate isomerase gene DOID:0080554 congenital disorder of glycosylation Ib ISO RGD:1349436 D RGD:7240710 20180130 OMIM 8804851 Mpi mannose phosphate isomerase gene DOID:0080554 congenital disorder of glycosylation Ib ISO RGD:1349436 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CDG Ib | ClinVar Annotator: match by term: CDG gastrointestinal type | ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type 1B | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1B | ClinVar Annotator: match by term: MPI deficiency | ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome PMID:10484808|PMID:10980531|PMID:11134235|PMID:11350186|PMID:12357336|PMID:12414827|PMID:12872847|PMID:16199547|PMID:17576681|PMID:18928705|PMID:19862844|PMID:24033266|PMID:24421398|PMID:24474243|PMID:24508628|PMID:24982104|PMID:25741868|PMID:26206375|PMID:28139241|PMID:28492532|PMID:28928705|PMID:30545931|PMID:3080572|PMID:32905087|PMID:33204592|PMID:33407696|PMID:33643843|PMID:9525984|PMID:9536098|PMID:9585601 8804851 Mpi mannose phosphate isomerase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8804851 Mpi mannose phosphate isomerase gene DOID:2717 Bloom syndrome ISO RGD:1349436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8804851 Mpi mannose phosphate isomerase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1349436 D RGD:9068941 20200609 RGD CDG Ib, OMIM:602579, DNA:point mutation:exon:R219Q , insertion:exon:116insC PMID:9525984|REF_RGD_ID:1600452 8804851 Mpi mannose phosphate isomerase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1349436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 8804851 Mpi mannose phosphate isomerase gene DOID:5419 schizophrenia ISO RGD:1349436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8804851 Mpi mannose phosphate isomerase gene DOID:630 genetic disease ISO RGD:1349436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804851 Mpi mannose phosphate isomerase gene DOID:9256 colorectal cancer ISO RGD:1349436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8804866 LOC102006916 olfactory receptor 13F1 gene DOID:630 genetic disease ISO RGD:1342816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804869 Lelp1 late cornified envelope like proline rich 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8804869 Lelp1 late cornified envelope like proline rich 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8804869 Lelp1 late cornified envelope like proline rich 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1604741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8804869 Lelp1 late cornified envelope like proline rich 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8804869 Lelp1 late cornified envelope like proline rich 1 gene DOID:5812 MHC class II deficiency ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8804869 Lelp1 late cornified envelope like proline rich 1 gene DOID:630 genetic disease ISO RGD:1604741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804869 Lelp1 late cornified envelope like proline rich 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8804875 Mlxip MLX interacting protein gene DOID:630 genetic disease ISO RGD:1602332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804875 Mlxip MLX interacting protein gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1602332 D RGD:9068941 20230831 RGD DNA:SNP:3'utr: (rs4758685) (human) PMID:23840567|REF_RGD_ID:401794443 8804907 Mrpl38 mitochondrial ribosomal protein L38 gene DOID:630 genetic disease ISO RGD:1322502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804927 Themis thymocyte selection associated gene DOID:0050589 inflammatory bowel disease ISO RGD:1560849 D RGD:9068941 20200917 RGD DNA:frameshift mutation: PMID:22275874|REF_RGD_ID:38599149 8804927 Themis thymocyte selection associated gene DOID:10608 celiac disease ISO RGD:1603481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 8804927 Themis thymocyte selection associated gene DOID:630 genetic disease ISO RGD:1603481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8804927 Themis thymocyte selection associated gene DOID:9008671 T-Lymphocytopenia ISO RGD:1560849 D RGD:9068941 20200917 RGD DNA:frameshift mutation: PMID:22275874|REF_RGD_ID:38599149 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:0060465 fibrochondrogenesis ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:28492532|PMID:32427345|PMID:32756486 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:0080046 Stickler syndrome ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant | ClinVar Annotator: match by term: Stickler syndrome PMID:10486316|PMID:10573014|PMID:20513134|PMID:25240749|PMID:25741868|PMID:28492532 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:0080672 fibrochondrogenesis 1 ISO RGD:735396 D RGD:7240710 20240313 OMIM 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:0080672 fibrochondrogenesis 1 ISO RGD:735396 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:10486316|PMID:16199547|PMID:17236192|PMID:17576681|PMID:17999364|PMID:20513134|PMID:21035103|PMID:23922384|PMID:23967202|PMID:25240749|PMID:25741868|PMID:26377240|PMID:26467025|PMID:28492532|PMID:30245029|PMID:32427345|PMID:32756486|PMID:34515852|PMID:9536098 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:0080675 Stickler syndrome 2 ISO RGD:735396 D RGD:7240710 20240313 OMIM 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:0080675 Stickler syndrome 2 ISO RGD:735396 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 | ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type PMID:10486316|PMID:10573014|PMID:10725403|PMID:11668615|PMID:13520885|PMID:16199547|PMID:17236192|PMID:17576681|PMID:17999364|PMID:19344236|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:23967202|PMID:25240749|PMID:25326635|PMID:25741868|PMID:26377240|PMID:26467025|PMID:27081549|PMID:27081569|PMID:28492532|PMID:30245029|PMID:30919572|PMID:32427345|PMID:32756486|PMID:34515852|PMID:35741851|PMID:8872475|PMID:9129742|PMID:9529347|PMID:9536098|PMID:9792885 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome ISO RGD:735396 D RGD:7240710 20240313 OMIM 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome PMID:10486316|PMID:13520885|PMID:16199547|PMID:17236192|PMID:17576681|PMID:17999364|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26377240|PMID:26467025|PMID:28492532|PMID:32427345|PMID:32756486|PMID:32963807|PMID:9129742|PMID:9529347|PMID:9536098|PMID:9792885 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:0111510 Marshall syndrome susceptibility ISO RGD:735396 D RGD:9068941 20240314 RGD DNA:SNP:splice junction: PMID:9529347|REF_RGD_ID:1600881 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:28492532 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:735396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:13550 angle-closure glaucoma ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922875|PMID:27064256 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:1826 epilepsy ISO RGD:735396 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19638309 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:5119 ovarian cyst ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:630 genetic disease ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13520885|PMID:16199547|PMID:17236192|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32427345|PMID:32756486|PMID:9129742|PMID:9529347|PMID:9792885 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:735396 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:17576681|PMID:17999364|PMID:23967202|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029|PMID:30753492|PMID:9536098 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:7693 abdominal aortic aneurysm ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm PMID:17182944 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:8398 osteoarthritis ISO RGD:735397 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:735396 D RGD:7240710 20240313 OMIM 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:735396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to PMID:16199547|PMID:17576681|PMID:17999364|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26377240|PMID:28492532|PMID:32427345|PMID:32756486|PMID:9536098 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:9002069 Autosomal Dominant Nonsyndromic Deafness 37 ISO RGD:735396 D RGD:7240710 20240313 OMIM 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:9002069 Autosomal Dominant Nonsyndromic Deafness 37 ISO RGD:735396 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 37 PMID:16199547|PMID:17576681|PMID:17999364|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:26377240|PMID:28315471|PMID:28492532|PMID:30245514|PMID:30311386|PMID:32427345|PMID:32756486|PMID:33169910|PMID:33605226|PMID:9536098 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:9003133 Hypertelorism ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:32427345|PMID:32756486 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:9004538 Hearing Loss ISO RGD:735396 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17576681|PMID:28492532|PMID:30311386|PMID:33169910|PMID:9536098 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:9005570 Marshall/Stickler Syndrome ISO RGD:735396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marshall/Stickler syndrome PMID:10486316|PMID:1536174 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17999364 8804945 Col11a1 collagen type XI alpha 1 chain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19638309 8805014 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1314998 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8805014 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:1731 histoplasmosis ISO RGD:1552436 D RGD:9068941 20201203 RGD protein:increased expression:macrophage, dendritic cell PMID:18268348|REF_RGD_ID:40822806 8805014 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:2048 autoimmune hepatitis ISO RGD:1552436 D RGD:9068941 20210219 RGD PMID:19781375|REF_RGD_ID:41412171 8805014 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1314998 D RGD:9068941 20201203 RGD protein:increased expression:Tcell, B cell, monocyte PMID:23661793|REF_RGD_ID:40818418 8805014 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:630 genetic disease ISO RGD:1314998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805014 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1306403 D RGD:9068941 20201203 RGD mRNA:increased expression:microglial cell PMID:29665726|REF_RGD_ID:40886268 8805014 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:9000220 Coxsackievirus Infections treatment ISO RGD:1552436 D RGD:9068941 20201203 RGD PMID:30904424|REF_RGD_ID:40818421 8805014 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:9004484 Sepsis ISO RGD:1314998 D RGD:9068941 20201127 RGD protein:increased expression:CD27B cell PMID:29661225|REF_RGD_ID:40818424 8805014 Pdcd1lg2 programmed cell death 1 ligand 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1552436 D RGD:9068941 20210219 RGD PMID:16358363|REF_RGD_ID:41410801 8805026 Oc90 otoconin 90 gene DOID:3426 vestibular disease ISO RGD:1606848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21269433 8805026 Oc90 otoconin 90 gene DOID:630 genetic disease ISO RGD:1606848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805042 Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:0060439 lysinuric protein intolerance ISO RGD:1322394 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8805042 Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:0080600 COVID-19 ISO RGD:1322394 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8805042 Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1322394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8805042 Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9000265 Specific Granule Deficiency ISO RGD:1322394 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8805042 Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9000520 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial ISO RGD:1322394 D RGD:7240710 20190306 OMIM 8805042 Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9000520 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial ISO RGD:1322394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial PMID:24033266|PMID:25741868|PMID:28492532 8805042 Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8805042 Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9002669 Hypoxia ISO RGD:1322394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 8805042 Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322394 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8805042 Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial gene DOID:9005930 Endotoxemia ISO RGD:1311112 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression,decreased activity:liver: PMID:19268478|REF_RGD_ID:10427879 8805056 Nxpe2 neurexophilin and PC-esterase domain family member 2 gene DOID:1059 intellectual disability ISO RGD:1349773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8805056 Nxpe2 neurexophilin and PC-esterase domain family member 2 gene DOID:630 genetic disease ISO RGD:1349773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805056 Nxpe2 neurexophilin and PC-esterase domain family member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8805056 Nxpe2 neurexophilin and PC-esterase domain family member 2 gene DOID:9007661 Dwarfism ISO RGD:1349773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8805071 Rab11b RAB11B, member RAS oncogene family gene DOID:0080490 mucolipidosis type IV ISO RGD:68529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 8805071 Rab11b RAB11B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:68529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8805071 Rab11b RAB11B, member RAS oncogene family gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:68529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8805071 Rab11b RAB11B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:68529 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29106825 8805071 Rab11b RAB11B, member RAS oncogene family gene DOID:9009096 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter ISO RGD:68529 D RGD:7240710 20190315 OMIM 8805071 Rab11b RAB11B, member RAS oncogene family gene DOID:9009096 Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter ISO RGD:68529 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter PMID:17576681|PMID:25741868|PMID:28492532|PMID:29106825|PMID:9536098 8805080 Arpc2 actin related protein 2/3 complex subunit 2 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1314126 D RGD:9068941 20200609 RGD mRNA:decreased expression:colonic mucosa (human) PMID:25107436|REF_RGD_ID:11049173 8805080 Arpc2 actin related protein 2/3 complex subunit 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8805080 Arpc2 actin related protein 2/3 complex subunit 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8805080 Arpc2 actin related protein 2/3 complex subunit 2 gene DOID:10325 silicosis ISO RGD:1305848 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (rat) PMID:18685790|REF_RGD_ID:4893904 8805080 Arpc2 actin related protein 2/3 complex subunit 2 gene DOID:1909 melanoma ISO RGD:1314126 D RGD:9068941 20200609 RGD protein:increased expression:nevus (human) PMID:19332774|REF_RGD_ID:11049176 8805080 Arpc2 actin related protein 2/3 complex subunit 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:1314126 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:21136934|REF_RGD_ID:11049179 8805080 Arpc2 actin related protein 2/3 complex subunit 2 gene DOID:418 systemic scleroderma ISO RGD:1314126 D RGD:9068941 20200609 RGD protein:increased expression:saliva (human) PMID:17722226|REF_RGD_ID:11049167 8805080 Arpc2 actin related protein 2/3 complex subunit 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8805080 Arpc2 actin related protein 2/3 complex subunit 2 gene DOID:630 genetic disease ISO RGD:1314126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805080 Arpc2 actin related protein 2/3 complex subunit 2 gene DOID:8577 ulcerative colitis ISO RGD:1314126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18836448 8805080 Arpc2 actin related protein 2/3 complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8805101 Lrrtm4 leucine rich repeat transmembrane neuronal 4 gene DOID:630 genetic disease ISO RGD:1352645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805108 Fhip1b FHF complex subunit HOOK interacting protein 1B gene DOID:10283 prostate cancer ISO RGD:1604775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8805108 Fhip1b FHF complex subunit HOOK interacting protein 1B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8805108 Fhip1b FHF complex subunit HOOK interacting protein 1B gene DOID:630 genetic disease ISO RGD:1604775 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805137 Mrgpre MAS related GPR family member E gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8805137 Mrgpre MAS related GPR family member E gene DOID:0080773 delta beta-thalassemia ISO RGD:1344531 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8805137 Mrgpre MAS related GPR family member E gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8805137 Mrgpre MAS related GPR family member E gene DOID:630 genetic disease ISO RGD:1344531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805143 Prickle4 prickle planar cell polarity protein 4 gene DOID:0050444 infantile Refsum disease ISO RGD:1347495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8805143 Prickle4 prickle planar cell polarity protein 4 gene DOID:630 genetic disease ISO RGD:1347495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805143 Prickle4 prickle planar cell polarity protein 4 gene DOID:905 Zellweger syndrome ISO RGD:1347495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8805165 Sash1 SAM and SH3 domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1350407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:25315659 8805165 Sash1 SAM and SH3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1350407 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8805165 Sash1 SAM and SH3 domain containing 1 gene DOID:9002761 Dyschromatosis Universalis Hereditaria 1 ISO RGD:1350407 D RGD:7240710 20190403 OMIM 8805165 Sash1 SAM and SH3 domain containing 1 gene DOID:9002761 Dyschromatosis Universalis Hereditaria 1 ISO RGD:1350407 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 1 PMID:12190883|PMID:15150790|PMID:23333244|PMID:25741868|PMID:26203640|PMID:27659786|PMID:27840890|PMID:27885802|PMID:28492532|PMID:29956681|PMID:32981204 8805165 Sash1 SAM and SH3 domain containing 1 gene DOID:9008147 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma ISO RGD:1350407 D RGD:7240710 20190424 OMIM 8805165 Sash1 SAM and SH3 domain containing 1 gene DOID:9008147 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma ISO RGD:1350407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma PMID:25315659|PMID:25741868 8805200 Cutc cutC copper transporter gene DOID:3652 Leigh disease ISO RGD:1312713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome 8805200 Cutc cutC copper transporter gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1312713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease 8805200 Cutc cutC copper transporter gene DOID:630 genetic disease ISO RGD:1312713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805224 Hhipl1 HHIP like 1 gene DOID:10283 prostate cancer ISO RGD:1349549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8805224 Hhipl1 HHIP like 1 gene DOID:3393 coronary artery disease ISO RGD:1349549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 8805224 Hhipl1 HHIP like 1 gene DOID:630 genetic disease ISO RGD:1349549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805239 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8805239 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8805239 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:0110983 Joubert syndrome 14 ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 8805239 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:630 genetic disease ISO RGD:733195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805239 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8805239 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8805239 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:733195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 8805239 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:733195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8805239 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:733195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8805239 Mpp4 MAGUK p55 scaffold protein 4 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:733195 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8805269 Ltb4r2 leukotriene B4 receptor 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1353949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8805269 Ltb4r2 leukotriene B4 receptor 2 gene DOID:630 genetic disease ISO RGD:1353949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805269 Ltb4r2 leukotriene B4 receptor 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1353949 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8805269 Ltb4r2 leukotriene B4 receptor 2 gene DOID:9004610 Acute Lung Injury severity ISO RGD:732977 D RGD:9068941 20210108 RGD associated with Endotoxemia PMID:27703200|REF_RGD_ID:40903067 8805269 Ltb4r2 leukotriene B4 receptor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353949 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8805289 Lamc1 laminin subunit gamma 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8805289 Lamc1 laminin subunit gamma 1 gene DOID:0080600 COVID-19 ISO RGD:1318553 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8805289 Lamc1 laminin subunit gamma 1 gene DOID:14323 Marfan syndrome ISO RGD:1318553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 8805289 Lamc1 laminin subunit gamma 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8805289 Lamc1 laminin subunit gamma 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8805289 Lamc1 laminin subunit gamma 1 gene DOID:520 aortic disease ISO RGD:1318553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 8805289 Lamc1 laminin subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1318553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805289 Lamc1 laminin subunit gamma 1 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:1318553 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 8805289 Lamc1 laminin subunit gamma 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8805289 Lamc1 laminin subunit gamma 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1318553 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 8805289 Lamc1 laminin subunit gamma 1 gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1318553 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes: (rs10911205) (human) PMID:27599772|REF_RGD_ID:401794577 8805289 Lamc1 laminin subunit gamma 1 gene DOID:9007402 Gliosis ISO RGD:1318553 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 8805289 Lamc1 laminin subunit gamma 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8805289 Lamc1 laminin subunit gamma 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:12225670 D RGD:9068941 20210604 OMIA L-2-hydroxyglutaricacidemia PMID:11708646|PMID:12892272|PMID:12892307|PMID:15715007|PMID:17475916|PMID:18295785|PMID:20852250|PMID:22834903|PMID:22843824|PMID:24830757|PMID:27729589 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15385440|PMID:15548604|PMID:21937992 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) PMID:24894778|REF_RGD_ID:13506818 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutations:exons:c.169G>A,c.542G>T(human) PMID:26208971|REF_RGD_ID:13506814 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1550752 D RGD:9068941 20200609 RGD PMID:25763823|REF_RGD_ID:13506815 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:7240710 20180307 OMIM 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314761 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition PMID:15385440|PMID:15548604|PMID:16134148|PMID:16199547|PMID:17576681|PMID:18362286|PMID:18414213|PMID:18415700|PMID:18780161|PMID:19863265|PMID:19911013|PMID:20052767|PMID:21937992|PMID:22030381|PMID:24573090|PMID:25033591|PMID:25741868|PMID:26467025|PMID:26829733|PMID:28492532|PMID:29458334|PMID:32626804|PMID:33061758|PMID:9536098 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0050753 cerebellar ataxia ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.241A4G(p.K81E)(human) PMID:24573090|REF_RGD_ID:13506824 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:0060587 Noonan syndrome 9 ISO RGD:1314761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Noonan syndrome 9 PMID:28492532 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1314761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:11832 visual epilepsy ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human) PMID:24894778|REF_RGD_ID:13506818 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:1826 epilepsy ISO RGD:1314761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15385440 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1314761 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.241A4G(p.K81E)(human) PMID:24573090|REF_RGD_ID:13506824 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:630 genetic disease ISO RGD:1314761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314761 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8805379 L2hgdh L-2-hydroxyglutarate dehydrogenase gene DOID:9006534 Nervous System Malformations ISO RGD:1314761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15385440 8805393 Gar1 GAR1 ribonucleoprotein gene DOID:2729 dyskeratosis congenita ISO RGD:1346713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22299032 8805393 Gar1 GAR1 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:1346713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8805393 Gar1 GAR1 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1346713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805393 Gar1 GAR1 ribonucleoprotein gene DOID:74 hematopoietic system disease ISO RGD:1346713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22299032 8805393 Gar1 GAR1 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:1346713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8805409 Znf469 zinc finger protein 469 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8805409 Znf469 zinc finger protein 469 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316175 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8805409 Znf469 zinc finger protein 469 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1316175 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25168418 8805409 Znf469 zinc finger protein 469 gene DOID:10124 corneal disease ISO RGD:1316175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18452888 8805409 Znf469 zinc finger protein 469 gene DOID:10126 keratoconus ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:24895405|PMID:25741868|PMID:28492532 8805409 Znf469 zinc finger protein 469 gene DOID:11830 myopia ISO RGD:1316175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 8805409 Znf469 zinc finger protein 469 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1316175 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:23642083|PMID:23680354|PMID:24082139|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:28377322|PMID:28484309|PMID:28492532|PMID:28622062|PMID:29228253|PMID:31107761|PMID:32671420|PMID:33739556|PMID:33816482|PMID:34368841 8805409 Znf469 zinc finger protein 469 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1316175 D RGD:7240710 20180130 OMIM 8805409 Znf469 zinc finger protein 469 gene DOID:14775 brittle cornea syndrome 1 ISO RGD:1316175 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition PMID:18452888|PMID:19661234|PMID:20938016|PMID:23642083|PMID:23680354|PMID:24082139|PMID:24895405|PMID:25097247|PMID:25564447|PMID:25741868|PMID:28377322|PMID:28484309|PMID:28492532|PMID:28622062|PMID:29228253|PMID:31107761|PMID:32671420|PMID:33739556|PMID:33747040|PMID:33816482|PMID:34368841|PMID:5755738|PMID:7387950 8805409 Znf469 zinc finger protein 469 gene DOID:14780 KBG syndrome ISO RGD:1316175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8805409 Znf469 zinc finger protein 469 gene DOID:1909 melanoma ISO RGD:1316175 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8805409 Znf469 zinc finger protein 469 gene DOID:630 genetic disease ISO RGD:1316175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8805409 Znf469 zinc finger protein 469 gene DOID:65 connective tissue disease ISO RGD:1316175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8805409 Znf469 zinc finger protein 469 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868 8805409 Znf469 zinc finger protein 469 gene DOID:9001224 Striae Distensae ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Striae distensae PMID:25741868 8805409 Znf469 zinc finger protein 469 gene DOID:9001946 Skin Abnormalities ISO RGD:1316175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18452888 8805409 Znf469 zinc finger protein 469 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1316175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 8805409 Znf469 zinc finger protein 469 gene DOID:9003318 Keratoconus 1 ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Keratoconus 1 PMID:24895405|PMID:25564447|PMID:25741868|PMID:28492532|PMID:29228253 8805409 Znf469 zinc finger protein 469 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1316175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8805409 Znf469 zinc finger protein 469 gene DOID:9005077 Joint Instability ISO RGD:1316175 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity PMID:25741868 8805409 Znf469 zinc finger protein 469 gene DOID:9005468 Brittle Cornea Syndrome ISO RGD:1316175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome PMID:25741868|PMID:28492532|PMID:29228253 8805417 Calhm5 calcium homeostasis modulator family member 5 gene DOID:0060163 body dysmorphic disorder ISO RGD:1321291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8805417 Calhm5 calcium homeostasis modulator family member 5 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1321291 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8805417 Calhm5 calcium homeostasis modulator family member 5 gene DOID:1059 intellectual disability ISO RGD:1321291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8805417 Calhm5 calcium homeostasis modulator family member 5 gene DOID:10907 microcephaly ISO RGD:1321291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8805417 Calhm5 calcium homeostasis modulator family member 5 gene DOID:1826 epilepsy ISO RGD:1321291 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8805417 Calhm5 calcium homeostasis modulator family member 5 gene DOID:630 genetic disease ISO RGD:1321291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805417 Calhm5 calcium homeostasis modulator family member 5 gene DOID:9000495 Tremor ISO RGD:1321291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8805423 Tagln transgelin gene DOID:0060017 CD3epsilon deficiency ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8805423 Tagln transgelin gene DOID:0060837 isolated microphthalmia 5 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8805423 Tagln transgelin gene DOID:0080685 aortic dissection treatment ISO RGD:11323 D RGD:9068941 20230223 RGD Apolipoprotein E knockout PMID:33403385|REF_RGD_ID:156420156 8805423 Tagln transgelin gene DOID:0080690 RASopathy ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8805423 Tagln transgelin gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8805423 Tagln transgelin gene DOID:0111123 nephronophthisis 15 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8805423 Tagln transgelin gene DOID:0111971 immunodeficiency 18 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8805423 Tagln transgelin gene DOID:0111972 immunodeficiency 19 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8805423 Tagln transgelin gene DOID:0111973 immunodeficiency 17 ISO RGD:11324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8805423 Tagln transgelin gene DOID:1059 intellectual disability ISO RGD:11324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8805423 Tagln transgelin gene DOID:289 endometriosis ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8805423 Tagln transgelin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8805423 Tagln transgelin gene DOID:630 genetic disease ISO RGD:11324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805423 Tagln transgelin gene DOID:9000058 Keloid ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8805423 Tagln transgelin gene DOID:9002928 Colonic Neoplasms ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8805423 Tagln transgelin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:11324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8805423 Tagln transgelin gene DOID:9006182 Carotid Artery Injuries ISO RGD:3723 D RGD:9068941 20230202 RGD mRNA:decreased expression:carotid artery: PMID:34694145|REF_RGD_ID:155883160 8805423 Tagln transgelin gene DOID:9007661 Dwarfism ISO RGD:11324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8805423 Tagln transgelin gene DOID:9455 lipid storage disease ISO RGD:11324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 8805435 Tctn1 tectonic family member 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606246 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:21725307|PMID:22693042|PMID:25741868|PMID:27894351|PMID:28492532 8805435 Tctn1 tectonic family member 1 gene DOID:0050778 Meckel syndrome ISO RGD:1606246 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:21725307|PMID:22693042|PMID:25741868|PMID:27894351|PMID:28492532 8805435 Tctn1 tectonic family member 1 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1606246 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:21725307|PMID:22693042|PMID:25741868|PMID:27894351|PMID:28492532 8805435 Tctn1 tectonic family member 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:27894351|PMID:28492532|PMID:9536098 8805435 Tctn1 tectonic family member 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606246 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26489806|PMID:27894351|PMID:28492532|PMID:9536098 8805435 Tctn1 tectonic family member 1 gene DOID:0110982 Joubert Syndrome 13 ISO RGD:1606246 D RGD:7240710 20190315 OMIM 8805435 Tctn1 tectonic family member 1 gene DOID:0110982 Joubert Syndrome 13 ISO RGD:1606246 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Joubert syndrome 13 PMID:16199547|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25558065|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26123494|PMID:26477546|PMID:27894351|PMID:28492532|PMID:31302911|PMID:32949114|PMID:34645488 8805435 Tctn1 tectonic family member 1 gene DOID:630 genetic disease ISO RGD:1606246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8805435 Tctn1 tectonic family member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 8805435 Tctn1 tectonic family member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1606246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:26092869 8805435 Tctn1 tectonic family member 1 gene DOID:9008582 Developmental Disease ISO RGD:1606246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26489806|PMID:28492532 8805453 Rnf166 ring finger protein 166 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1351592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 8805453 Rnf166 ring finger protein 166 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1351592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8805453 Rnf166 ring finger protein 166 gene DOID:14780 KBG syndrome ISO RGD:1351592 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8805453 Rnf166 ring finger protein 166 gene DOID:630 genetic disease ISO RGD:1351592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805453 Rnf166 ring finger protein 166 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8805479 Mcm2 minichromosome maintenance complex component 2 gene DOID:0080600 COVID-19 ISO RGD:1313689 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8805479 Mcm2 minichromosome maintenance complex component 2 gene DOID:0110592 autosomal dominant nonsyndromic deafness 70 ISO RGD:1313689 D RGD:7240710 20190315 OMIM 8805479 Mcm2 minichromosome maintenance complex component 2 gene DOID:0110592 autosomal dominant nonsyndromic deafness 70 ISO RGD:1313689 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 70 PMID:25741868|PMID:26196677|PMID:28492532 8805479 Mcm2 minichromosome maintenance complex component 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:1313689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8805479 Mcm2 minichromosome maintenance complex component 2 gene DOID:10652 Alzheimer's disease ISO RGD:1313689 D RGD:9068941 20200609 RGD PMID:19946466|REF_RGD_ID:10412048 8805479 Mcm2 minichromosome maintenance complex component 2 gene DOID:10652 Alzheimer's disease ISO RGD:1313690 D RGD:9068941 20200609 RGD PMID:17070803|REF_RGD_ID:10412050 8805479 Mcm2 minichromosome maintenance complex component 2 gene DOID:630 genetic disease ISO RGD:1313689 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 8805479 Mcm2 minichromosome maintenance complex component 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8805479 Mcm2 minichromosome maintenance complex component 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313689 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23770000 8805479 Mcm2 minichromosome maintenance complex component 2 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:1305577 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:17931356|REF_RGD_ID:10412049 8805479 Mcm2 minichromosome maintenance complex component 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1313689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8805479 Mcm2 minichromosome maintenance complex component 2 gene DOID:9270 alkaptonuria ISO RGD:1313689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8805499 Ppm1b protein phosphatase, Mg2+/Mn2+ dependent 1B gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:733846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 8805499 Ppm1b protein phosphatase, Mg2+/Mn2+ dependent 1B gene DOID:3883 Lynch syndrome ISO RGD:733846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8805499 Ppm1b protein phosphatase, Mg2+/Mn2+ dependent 1B gene DOID:630 genetic disease ISO RGD:733846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805499 Ppm1b protein phosphatase, Mg2+/Mn2+ dependent 1B gene DOID:9007102 Myocardial Ischemia ISO RGD:733846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8805524 Trim15 tripartite motif containing 15 gene DOID:11372 megacolon ISO RGD:1322537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8805524 Trim15 tripartite motif containing 15 gene DOID:630 genetic disease ISO RGD:1322537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805535 Insl4 insulin like 4 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1354230 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8805535 Insl4 insulin like 4 gene DOID:630 genetic disease ISO RGD:1354230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805547 Mapre2 microtubule associated protein RP/EB family member 2 gene DOID:0112243 congenital symmetric circumferential skin creases 2 ISO RGD:1344538 D RGD:7240710 20180130 OMIM 8805547 Mapre2 microtubule associated protein RP/EB family member 2 gene DOID:0112243 congenital symmetric circumferential skin creases 2 ISO RGD:1344538 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 PMID:19182162|PMID:21262397|PMID:25741868|PMID:26637975|PMID:31903734 8805547 Mapre2 microtubule associated protein RP/EB family member 2 gene DOID:1059 intellectual disability ISO RGD:1344538 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8805547 Mapre2 microtubule associated protein RP/EB family member 2 gene DOID:630 genetic disease ISO RGD:1344538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25954003|PMID:27618451|PMID:28490743 8805547 Mapre2 microtubule associated protein RP/EB family member 2 gene DOID:9008582 Developmental Disease ISO RGD:1344538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26637975 8805579 Cttnbp2 cortactin binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1353355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8805579 Cttnbp2 cortactin binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1353355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8805579 Cttnbp2 cortactin binding protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8805579 Cttnbp2 cortactin binding protein 2 gene DOID:630 genetic disease ISO RGD:1353355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805579 Cttnbp2 cortactin binding protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8805605 Nrap nebulin related anchoring protein gene DOID:0050700 cardiomyopathy ISO RGD:1315517 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:33534821 8805605 Nrap nebulin related anchoring protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1315517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 8805605 Nrap nebulin related anchoring protein gene DOID:630 genetic disease ISO RGD:1315517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805605 Nrap nebulin related anchoring protein gene DOID:9005359 Hereditary Thrombophilia ISO RGD:1315517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor VII Marburg I Variant Thrombophilia 8805605 Nrap nebulin related anchoring protein gene DOID:9007820 Sudden Death ISO RGD:1315517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death 8805661 Gnat2 G protein subunit alpha transducin 2 gene DOID:0050795 cone dystrophy ISO RGD:1319893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:28492532|PMID:31058429 8805661 Gnat2 G protein subunit alpha transducin 2 gene DOID:0110010 achromatopsia 4 ISO RGD:1319893 D RGD:7240710 20180130 OMIM 8805661 Gnat2 G protein subunit alpha transducin 2 gene DOID:0110010 achromatopsia 4 ISO RGD:1319893 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Achromatopsia 4 PMID:12077706|PMID:12205108|PMID:15557429|PMID:18643908|PMID:21107338|PMID:25741868|PMID:27208204|PMID:28492532|PMID:31058429|PMID:31144483 8805661 Gnat2 G protein subunit alpha transducin 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1319893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8805661 Gnat2 G protein subunit alpha transducin 2 gene DOID:12849 autistic disorder ISO RGD:1319893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8805661 Gnat2 G protein subunit alpha transducin 2 gene DOID:13399 color blindness ISO RGD:1319893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12077706 8805661 Gnat2 G protein subunit alpha transducin 2 gene DOID:13399 color blindness ISO RGD:1319893 D RGD:9068941 20200609 RGD PMID:12077706|REF_RGD_ID:1599034 8805661 Gnat2 G protein subunit alpha transducin 2 gene DOID:13911 achromatopsia ISO RGD:1319893 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:12077706|PMID:25741868|PMID:28492532|PMID:31058429|PMID:31144483 8805661 Gnat2 G protein subunit alpha transducin 2 gene DOID:630 genetic disease ISO RGD:1319893 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8805661 Gnat2 G protein subunit alpha transducin 2 gene DOID:8501 fundus dystrophy ISO RGD:1319893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 8805661 Gnat2 G protein subunit alpha transducin 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1319893 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 8805688 Cabyr calcium binding tyrosine phosphorylation regulated gene DOID:1059 intellectual disability ISO RGD:1349000 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8805688 Cabyr calcium binding tyrosine phosphorylation regulated gene DOID:12336 male infertility ISO RGD:1616750 D RGD:9068941 20220825 MouseDO 8805688 Cabyr calcium binding tyrosine phosphorylation regulated gene DOID:630 genetic disease ISO RGD:1349000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805688 Cabyr calcium binding tyrosine phosphorylation regulated gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 8805710 Fen1 flap structure-specific endonuclease 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8805710 Fen1 flap structure-specific endonuclease 1 gene DOID:1059 intellectual disability ISO RGD:732679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8805710 Fen1 flap structure-specific endonuclease 1 gene DOID:1612 breast cancer disease_progression ISO RGD:732679 D RGD:9068941 20200609 RGD DNA,mRNA:hypomethylation,increased expression:promoter,breast PMID:19010819|REF_RGD_ID:6484520 8805710 Fen1 flap structure-specific endonuclease 1 gene DOID:299 adenocarcinoma susceptibility ISO RGD:732680 D RGD:9068941 20200609 RGD PMID:12119409|REF_RGD_ID:737746 8805710 Fen1 flap structure-specific endonuclease 1 gene DOID:417 autoimmune disease ISO RGD:732680 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E160D PMID:17589521|REF_RGD_ID:6484213 8805710 Fen1 flap structure-specific endonuclease 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8805710 Fen1 flap structure-specific endonuclease 1 gene DOID:630 genetic disease ISO RGD:732679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805710 Fen1 flap structure-specific endonuclease 1 gene DOID:9002245 Intestinal Neoplasms disease_progression ISO RGD:10166 D RGD:9068941 20200609 RGD DNA:haploinsufficiency: : PMID:12119409|REF_RGD_ID:737746 8805710 Fen1 flap structure-specific endonuclease 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28371273 8805710 Fen1 flap structure-specific endonuclease 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732680 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E160D PMID:17589521|REF_RGD_ID:6484213 8805710 Fen1 flap structure-specific endonuclease 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:732679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 8805710 Fen1 flap structure-specific endonuclease 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 8805716 Tk1 thymidine kinase 1 gene DOID:0080600 COVID-19 ISO RGD:736473 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8805716 Tk1 thymidine kinase 1 gene DOID:1612 breast cancer ISO RGD:736473 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10883887|REF_RGD_ID:2317242 8805716 Tk1 thymidine kinase 1 gene DOID:2893 cervix carcinoma ISO RGD:736473 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:11474248|REF_RGD_ID:2317243 8805716 Tk1 thymidine kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736473 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:15583816|REF_RGD_ID:2317237 8805716 Tk1 thymidine kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8805716 Tk1 thymidine kinase 1 gene DOID:630 genetic disease ISO RGD:736473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805716 Tk1 thymidine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8805716 Tk1 thymidine kinase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8805716 Tk1 thymidine kinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8805716 Tk1 thymidine kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 8805733 Shc4 SHC adaptor protein 4 gene DOID:2717 Bloom syndrome ISO RGD:1602620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8805733 Shc4 SHC adaptor protein 4 gene DOID:630 genetic disease ISO RGD:1602620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805733 Shc4 SHC adaptor protein 4 gene DOID:9256 colorectal cancer ISO RGD:1602620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8805749 Bet1 Bet1 golgi vesicular membrane trafficking protein gene DOID:0080600 COVID-19 ISO RGD:732892 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8805749 Bet1 Bet1 golgi vesicular membrane trafficking protein gene DOID:1826 epilepsy ISO RGD:732892 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:34779586 8805749 Bet1 Bet1 golgi vesicular membrane trafficking protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8805749 Bet1 Bet1 golgi vesicular membrane trafficking protein gene DOID:630 genetic disease ISO RGD:732892 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805762 Ar androgen receptor gene DOID:0050856 oppositional defiant disorder ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:repeats, haplotypes PMID:10380986|REF_RGD_ID:6907129 8805762 Ar androgen receptor gene DOID:0060074 ductal carcinoma in situ ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:17543076|REF_RGD_ID:1643341 8805762 Ar androgen receptor gene DOID:0060161 Kennedy's disease ISO RGD:735652 D RGD:7240710 20240308 OMIM 8805762 Ar androgen receptor gene DOID:0060161 Kennedy's disease ISO RGD:735652 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bulbospinal neuronopathy X-linked recessive | ClinVar Annotator: match by term: Kennedy disease PMID:10852459|PMID:16804045|PMID:22412043|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27583472|PMID:28492532|PMID:28624954|PMID:30599484|PMID:9544375 8805762 Ar androgen receptor gene DOID:0060161 Kennedy's disease treatment ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:26942099|REF_RGD_ID:11576229 8805762 Ar androgen receptor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8805762 Ar androgen receptor gene DOID:0070168 spermatogenic failure 3 ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532 8805762 Ar androgen receptor gene DOID:0080776 partial androgen insensitivity syndrome ISO RGD:735652 D RGD:7240710 20240308 OMIM 8805762 Ar androgen receptor gene DOID:0080776 partial androgen insensitivity syndrome ISO RGD:735652 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome | ClinVar Annotator: match by term: Reifenstein syndrome PMID:10221692|PMID:10485299|PMID:10502786|PMID:10543676|PMID:10946887|PMID:10999818|PMID:11788616|PMID:11788673|PMID:1303262|PMID:1307250|PMID:1430233|PMID:15001585|PMID:15109605|PMID:15925895|PMID:1598912|PMID:16083860|PMID:16450583|PMID:16804045|PMID:20011049|PMID:2010552|PMID:23808476|PMID:24321103|PMID:24737579|PMID:25241384|PMID:25326637|PMID:25740850|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26778393|PMID:26806084|PMID:27267075|PMID:27583472|PMID:27854360|PMID:28186600|PMID:28261839|PMID:28492532|PMID:28624954|PMID:2918059|PMID:29237170|PMID:30668521|PMID:32985417|PMID:33750429|PMID:7581399|PMID:7671849|PMID:8040309|PMID:8096390|PMID:8097257|PMID:8281139|PMID:8325932|PMID:8446106|PMID:8628719|PMID:8723113|PMID:8823308|PMID:8824883|PMID:9345099|PMID:9543136|PMID:9768671|PMID:9851768|PMID:9856504|PMID:9921903 8805762 Ar androgen receptor gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18985049|PMID:24740322|PMID:28500234|PMID:28757136 8805762 Ar androgen receptor gene DOID:0090122 aromatase excess syndrome ISO RGD:735652 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Gynecomastia, familial PMID:16804045|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27583472|PMID:28492532 8805762 Ar androgen receptor gene DOID:0111152 multicentric Castleman disease ISO RGD:735652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TAFRO syndrome PMID:16804045|PMID:28492532 8805762 Ar androgen receptor gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia of the uterus PMID:25741868 8805762 Ar androgen receptor gene DOID:10283 prostate cancer ISO RGD:735652 D RGD:7240710 20240308 OMIM 8805762 Ar androgen receptor gene DOID:10283 prostate cancer ISO RGD:735652 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10571951|PMID:10589774|PMID:10946887|PMID:11103816|PMID:1307250|PMID:1631125|PMID:1779964|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27583472|PMID:28492532|PMID:29095814|PMID:29237170|PMID:29582157|PMID:31277073|PMID:7671849|PMID:7795646|PMID:8530589|PMID:8628719|PMID:8723113|PMID:8824883|PMID:9399843|PMID:9851768|PMID:9921903 8805762 Ar androgen receptor gene DOID:10283 prostate cancer no_association ISO RGD:735652 D RGD:9068941 20200609 RGD african-american men PMID:15479493|REF_RGD_ID:1578686 8805762 Ar androgen receptor gene DOID:10283 prostate cancer treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:17049844|REF_RGD_ID:10043311 8805762 Ar androgen receptor gene DOID:10283 prostate cancer treatment ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:17049844|REF_RGD_ID:10043311 8805762 Ar androgen receptor gene DOID:10763 hypertension ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:15746697|REF_RGD_ID:1601245 8805762 Ar androgen receptor gene DOID:10763 hypertension ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10523385 8805762 Ar androgen receptor gene DOID:10763 hypertension treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:12397037|REF_RGD_ID:10043316 8805762 Ar androgen receptor gene DOID:10892 hypospadias ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15472213|REF_RGD_ID:1578685 8805762 Ar androgen receptor gene DOID:10892 hypospadias ISO RGD:735652 D RGD:9068941 20200609 RGD mRNA:decreased expression:mucosa of urethra PMID:23386417|REF_RGD_ID:11576230 8805762 Ar androgen receptor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:repeats, haplotypes PMID:10380986|REF_RGD_ID:6907129 8805762 Ar androgen receptor gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:22430536|PMID:24872436|REF_RGD_ID:10043335|REF_RGD_ID:10045676 8805762 Ar androgen receptor gene DOID:11198 DiGeorge syndrome ISO RGD:735652 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:25741868 8805762 Ar androgen receptor gene DOID:11383 cryptorchidism ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15472213|REF_RGD_ID:1578685 8805762 Ar androgen receptor gene DOID:11383 cryptorchidism ISO RGD:735652 D RGD:9068941 20200609 RGD DNA:repeats:exon PMID:15757859|REF_RGD_ID:11576231 8805762 Ar androgen receptor gene DOID:11476 osteoporosis treatment ISO RGD:10187 D RGD:9068941 20200609 RGD PMID:18847323|REF_RGD_ID:10043198 8805762 Ar androgen receptor gene DOID:11476 osteoporosis treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:14600402|REF_RGD_ID:10043196 8805762 Ar androgen receptor gene DOID:11612 polycystic ovary syndrome no_association ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15950642|REF_RGD_ID:1578688 8805762 Ar androgen receptor gene DOID:11714 gestational diabetes ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 8805762 Ar androgen receptor gene DOID:12336 male infertility ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12220434|PMID:18554162|PMID:20164437 8805762 Ar androgen receptor gene DOID:12377 spinal muscular atrophy ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:10400640|REF_RGD_ID:1578680 8805762 Ar androgen receptor gene DOID:1240 leukemia ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19235587 8805762 Ar androgen receptor gene DOID:127 leiomyoma ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15704521|REF_RGD_ID:1578690 8805762 Ar androgen receptor gene DOID:12849 autistic disorder ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8805762 Ar androgen receptor gene DOID:12995 conduct disorder ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:repeats, haplotypes PMID:10380986|REF_RGD_ID:6907129 8805762 Ar androgen receptor gene DOID:1380 endometrial cancer ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15721279|REF_RGD_ID:1578689 8805762 Ar androgen receptor gene DOID:14499 Fabry disease treatment ISO RGD:10187 D RGD:9068941 20200609 RGD PMID:25701874|REF_RGD_ID:11576234 8805762 Ar androgen receptor gene DOID:2394 ovarian cancer ISO RGD:735652 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22403669|PMID:25299611|PMID:25500996|PMID:25741868|PMID:28492532|PMID:31871297 8805762 Ar androgen receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:18439064|REF_RGD_ID:10043341 8805762 Ar androgen receptor gene DOID:289 endometriosis no_association ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:15120698|REF_RGD_ID:1578684 8805762 Ar androgen receptor gene DOID:3008 invasive ductal carcinoma severity ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:16075292|REF_RGD_ID:1643344 8805762 Ar androgen receptor gene DOID:3021 acute kidney failure ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:24503548|REF_RGD_ID:11570523 8805762 Ar androgen receptor gene DOID:3069 malignant astrocytoma ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 8805762 Ar androgen receptor gene DOID:3764 Denys-Drash syndrome ISO RGD:10187 D RGD:9068941 20200609 RGD protein:decreased expression:sertoli cell PMID:16245160|REF_RGD_ID:1643343 8805762 Ar androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:7240710 20240308 OMIM 8805762 Ar androgen receptor gene DOID:4674 androgen insensitivity syndrome ISO RGD:735652 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency PMID:10022458|PMID:10092153|PMID:10221692|PMID:10221770|PMID:10323251|PMID:10323385|PMID:10359561|PMID:10425033|PMID:10458483|PMID:10502786|PMID:10571951|PMID:10690872|PMID:10834333|PMID:10840043|PMID:10852459|PMID:10946887|PMID:11181525|PMID:11225909|PMID:11260228|PMID:11376111|PMID:11397856|PMID:11549642|PMID:11579211|PMID:1158706|PMID:11744994|PMID:11788616|PMID:11788645|PMID:11788673|PMID:11889162|PMID:12068007|PMID:12213902|PMID:12466388|PMID:12644579|PMID:12705360|PMID:12843171|PMID:1303262|PMID:1307250|PMID:1430233|PMID:1458719|PMID:14701682|PMID:1480178|PMID:14974091|PMID:1508223|PMID:15109605|PMID:15266301|PMID:15531547|PMID:15541764|PMID:1569163|PMID:15925895|PMID:15963062|PMID:1598912|PMID:16083860|PMID:1609793|PMID:16199547|PMID:16283146|PMID:16365032|PMID:16373394|PMID:16450583|PMID:16470553|PMID:16804045|PMID:17161333|PMID:1720929|PMID:17382127|PMID:1750490|PMID:1752359|PMID:17576681|PMID:1775137|PMID:17937062|PMID:17970778|PMID:18406699|PMID:18710728|PMID:19463997|PMID:20007693|PMID:20011049|PMID:20056211|PMID:20150575|PMID:20305676|PMID:20493947|PMID:20671138|PMID:2082179|PMID:21520333|PMID:21645389|PMID:21710452|PMID:21962961|PMID:22334387|PMID:22403669|PMID:22412043|PMID:22799610|PMID:2293020|PMID:22995991|PMID:23106833|PMID:2332504|PMID:2339702|PMID:23637914|PMID:23774508|PMID:24033266|PMID:24186138|PMID:24321103|PMID:24367986|PMID:24737579|PMID:24790346|PMID:25241384|PMID:25248670|PMID:25299611|PMID:25326637|PMID:25433660|PMID:25500996|PMID:25613104|PMID:25640679|PMID:25674389|PMID:25740850|PMID:25741868|PMID:2594783|PMID:26303084|PMID:26688387|PMID:26778393|PMID:26806084|PMID:26813233|PMID:26980296|PMID:27051040|PMID:27267075|PMID:27284311|PMID:27403927|PMID:27583472|PMID:27849622|PMID:27854360|PMID:27899157|PMID:27989800|PMID:28186600|PMID:28261839|PMID:28456808|PMID:28492532|PMID:28611373|PMID:28624954|PMID:28659371|PMID:28743543|PMID:28857053|PMID:28879700|PMID:28947719|PMID:29051026|PMID:29237170|PMID:29758562|PMID:29785970|PMID:30064134|PMID:30113450|PMID:30165367|PMID:30316867|PMID:30401990|PMID:30599484|PMID:30668521|PMID:30815925|PMID:31012339|PMID:31180159|PMID:31219235|PMID:31373714|PMID:31429517|PMID:31499074|PMID:3174628|PMID:3186717|PMID:31871297|PMID:3216866|PMID:32229106|PMID:32345305|PMID:32985417|PMID:33505695|PMID:33514065|PMID:33548461|PMID:33728612|PMID:33750429|PMID:33819955|PMID:33863387|PMID:34276780|PMID:34333495|PMID:34689141|PMID:35561789|PMID:4061484|PMID:7537149|PMID:7581399|PMID:7626493|PMID:7633398|PMID:7641413|PMID:7671849|PMID:7723794|PMID:7910529|PMID:7970939|PMID:7981687|PMID:7981689|PMID:8033918|PMID:8040309|PMID:8096390|PMID:8097257|PMID:8126121|PMID:8162033|PMID:8325932|PMID:8413310|PMID:8450040|PMID:8450042|PMID:8626869|PMID:8628719|PMID:8647313|PMID:8723113|PMID:8809734|PMID:8823308|PMID:8824883|PMID:8990010|PMID:9007482|PMID:9039340|PMID:9196614|PMID:9302173|PMID:9328206|PMID:9332480|PMID:9360511|PMID:9463997|PMID:9536098|PMID:9543136|PMID:9544375|PMID:9554754|PMID:9576916|PMID:9627582|PMID:9698822|PMID:9768671|PMID:9788719|PMID:9851768|PMID:9856504|PMID:9921903 8805762 Ar androgen receptor gene DOID:48 male reproductive system disease ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25434310 8805762 Ar androgen receptor gene DOID:630 genetic disease ISO RGD:735652 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10359561|PMID:22403669|PMID:27899157|PMID:28261839|PMID:28492532|PMID:31180159 8805762 Ar androgen receptor gene DOID:684 hepatocellular carcinoma ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18639551 8805762 Ar androgen receptor gene DOID:8634 prostate carcinoma in situ ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601956 8805762 Ar androgen receptor gene DOID:9000357 Male Breast Neoplasms ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1303262|PMID:8281139 8805762 Ar androgen receptor gene DOID:9000357 Male Breast Neoplasms disease_progression ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:14555518|REF_RGD_ID:1643345 8805762 Ar androgen receptor gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:735652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:1631125|PMID:1779964|PMID:28492532|PMID:6541981|PMID:7723794|PMID:7795646|PMID:8187068 8805762 Ar androgen receptor gene DOID:9000779 Hypospadias 1, X-Linked ISO RGD:735652 D RGD:7240710 20240308 OMIM 8805762 Ar androgen receptor gene DOID:9000779 Hypospadias 1, X-Linked ISO RGD:735652 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypospadias 1, X-linked PMID:20305676|PMID:25326637|PMID:25740850|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27583472|PMID:28261839|PMID:28492532|PMID:29758562|PMID:31219235|PMID:34689141|PMID:7981687|PMID:8033918|PMID:8097257|PMID:8683794|PMID:8723113|PMID:9332480 8805762 Ar androgen receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:735652 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Prostate neoplasm PMID:23779130|PMID:28492532 8805762 Ar androgen receptor gene DOID:9002304 Prostatic Neoplasms onset ISO RGD:10187 D RGD:9068941 20200609 RGD PMID:17906287|REF_RGD_ID:2293867 8805762 Ar androgen receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:735652 D RGD:9068941 20200609 RGD DNA:repeat:exon:c.172(CAG)8-34 (human) PMID:16098017|REF_RGD_ID:10043199 8805762 Ar androgen receptor gene DOID:9003315 Lubs Syndrome ISO RGD:735652 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Type I familial incomplete male pseudohermaphroditism PMID:16804045|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27583472|PMID:28492532 8805762 Ar androgen receptor gene DOID:9003555 Androgen Insensitivity Syndrome due to Coactivator Deficiency ISO RGD:735652 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency PMID:10852459|PMID:16804045|PMID:22412043|PMID:25741868|PMID:2594783|PMID:26688387|PMID:26806084|PMID:27583472|PMID:28492532|PMID:28624954|PMID:30599484|PMID:9544375 8805762 Ar androgen receptor gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:12593895|REF_RGD_ID:1578682 8805762 Ar androgen receptor gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11742035 8805762 Ar androgen receptor gene DOID:9005172 Lung Neoplasms ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 8805762 Ar androgen receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:12150826|REF_RGD_ID:6482679 8805762 Ar androgen receptor gene DOID:9005539 Familial Prostate Cancer ISO RGD:735652 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Prostate cancer susceptibility PMID:10589774|PMID:11103816|PMID:28492532|PMID:8530589 8805762 Ar androgen receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10187 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic B cell PMID:18543106|REF_RGD_ID:2306772 8805762 Ar androgen receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2147 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:epididymis, prostate gland, testis PMID:16398356|REF_RGD_ID:2306774 8805762 Ar androgen receptor gene DOID:9007181 Osteoporotic Fractures susceptibility ISO RGD:735652 D RGD:9068941 20200609 RGD DNA:repeat:exon:g.6287(CAG)7-34 (human) PMID:14667136|REF_RGD_ID:10043197 8805762 Ar androgen receptor gene DOID:9007456 Female Infertility ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 8805762 Ar androgen receptor gene DOID:9007692 Insulin Resistance ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21444647 8805762 Ar androgen receptor gene DOID:9007692 Insulin Resistance ISO RGD:735652 D RGD:9068941 20200609 RGD PMID:17332526|REF_RGD_ID:1601244 8805762 Ar androgen receptor gene DOID:9007692 Insulin Resistance ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome;DNA:repeat: :CAG PMID:16793958|REF_RGD_ID:2306773 8805762 Ar androgen receptor gene DOID:9008824 Sarcopenia treatment ISO RGD:10187 D RGD:9068941 20200609 RGD PMID:24177288|REF_RGD_ID:10043306 8805762 Ar androgen receptor gene DOID:9008824 Sarcopenia treatment ISO RGD:2147 D RGD:9068941 20200609 RGD PMID:17049844|REF_RGD_ID:10043311 8805762 Ar androgen receptor gene DOID:9008939 Breast Neoplasms ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21633166|PMID:22174584 8805762 Ar androgen receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:10187 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8805762 Ar androgen receptor gene DOID:987 alopecia ISO RGD:735652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15902657 8805762 Ar androgen receptor gene DOID:9970 obesity ISO RGD:10187 D RGD:9068941 20220825 MouseDO OMIM:601665 8805762 Ar androgen receptor gene DOID:9970 obesity susceptibility ISO RGD:735652 D RGD:9068941 20200609 RGD DNA:repeats: :GGN, CAG PMID:12532157|REF_RGD_ID:1601246 8805762 Ar androgen receptor gene DOID:9970 obesity susceptibility ISO RGD:735652 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:repeat: :CAG PMID:18805913|REF_RGD_ID:2306771 8805780 Rhoa ras homolog family member A gene DOID:0050665 fetal alcohol syndrome ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased activation:neuron, cerebellum PMID:17109064|REF_RGD_ID:2298867 8805780 Rhoa ras homolog family member A gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 8805780 Rhoa ras homolog family member A gene DOID:0060001 withdrawal disorder ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 8805780 Rhoa ras homolog family member A gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:26619011 8805780 Rhoa ras homolog family member A gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8805780 Rhoa ras homolog family member A gene DOID:0060852 Pierson syndrome ISO RGD:1347797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 8805780 Rhoa ras homolog family member A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24584070 8805780 Rhoa ras homolog family member A gene DOID:10763 hypertension ISO RGD:619921 D RGD:9068941 20200609 RGD protein:altered localization:mesenteric artery PMID:17620967|REF_RGD_ID:1642801 8805780 Rhoa ras homolog family member A gene DOID:1091 tooth disease ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 8805780 Rhoa ras homolog family member A gene DOID:10976 membranous glomerulonephritis ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased activity:epithelial cell PMID:17376765|REF_RGD_ID:1642963 8805780 Rhoa ras homolog family member A gene DOID:11054 urinary bladder cancer ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19896475 8805780 Rhoa ras homolog family member A gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:12855641|REF_RGD_ID:2298872 8805780 Rhoa ras homolog family member A gene DOID:1107 esophageal carcinoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:26619011 8805780 Rhoa ras homolog family member A gene DOID:1612 breast cancer disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD PMID:18575772|REF_RGD_ID:2298866 8805780 Rhoa ras homolog family member A gene DOID:1612 breast cancer severity ISO RGD:1347797 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12237774|REF_RGD_ID:2298874 8805780 Rhoa ras homolog family member A gene DOID:2121 ectodermal dysplasia ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 8805780 Rhoa ras homolog family member A gene DOID:2377 multiple sclerosis ISO RGD:1347797 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell, brain PMID:17983427|REF_RGD_ID:2298887 8805780 Rhoa ras homolog family member A gene DOID:2841 asthma ISO RGD:619921 D RGD:9068941 20200609 RGD PMID:18391481|REF_RGD_ID:2298885 8805780 Rhoa ras homolog family member A gene DOID:305 carcinoma ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816255 8805780 Rhoa ras homolog family member A gene DOID:3459 breast carcinoma ISO RGD:1347797 D RGD:9068941 20200609 RGD PMID:17007568|REF_RGD_ID:2298868 8805780 Rhoa ras homolog family member A gene DOID:3717 gastric adenocarcinoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 8805780 Rhoa ras homolog family member A gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 8805780 Rhoa ras homolog family member A gene DOID:3910 lung adenocarcinoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:26619011 8805780 Rhoa ras homolog family member A gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:12808121|REF_RGD_ID:2298873 8805780 Rhoa ras homolog family member A gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 8805780 Rhoa ras homolog family member A gene DOID:576 proteinuria ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19955829 8805780 Rhoa ras homolog family member A gene DOID:630 genetic disease ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805780 Rhoa ras homolog family member A gene DOID:6432 pulmonary hypertension ISO RGD:619921 D RGD:9068941 20200609 RGD protein:altered localization:membrane, artery, lung PMID:18091588|REF_RGD_ID:2298877 8805780 Rhoa ras homolog family member A gene DOID:6432 pulmonary hypertension ISO RGD:619921 D RGD:9068941 20200609 RGD protein:altered localization:pulmonary artery PMID:16322374|REF_RGD_ID:1642819 8805780 Rhoa ras homolog family member A gene DOID:9000039 Spinal Cord Injuries ISO RGD:619921 D RGD:9068941 20230401 RGD mRNA,protein:increased expression:spinal cord: PMID:27893610|REF_RGD_ID:243048440 8805780 Rhoa ras homolog family member A gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347797 D RGD:9068941 20200609 RGD associated with Bladder Neoplasms;protein:increased expression:lymph node PMID:12855641|REF_RGD_ID:2298872 8805780 Rhoa ras homolog family member A gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347797 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:17597401|REF_RGD_ID:13432052 8805780 Rhoa ras homolog family member A gene DOID:9000217 Stomach Neoplasms ISO RGD:1347797 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:15448013|PMID:24816253|PMID:24816255|PMID:36914835 8805780 Rhoa ras homolog family member A gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1347797 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:15269155|REF_RGD_ID:2298869 8805780 Rhoa ras homolog family member A gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:11872041|REF_RGD_ID:2298875 8805780 Rhoa ras homolog family member A gene DOID:9000784 Fibrosis ISO RGD:619921 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased activation:heart PMID:17184496|REF_RGD_ID:1642810 8805780 Rhoa ras homolog family member A gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347797 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:12808121|REF_RGD_ID:2298873 8805780 Rhoa ras homolog family member A gene DOID:9000998 Brain Injuries ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell, brain PMID:17929039|REF_RGD_ID:2298888 8805780 Rhoa ras homolog family member A gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8805780 Rhoa ras homolog family member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619921 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:16492715|PMID:17596891|REF_RGD_ID:1642803|REF_RGD_ID:2298879 8805780 Rhoa ras homolog family member A gene DOID:9001734 Neurocutaneous Syndromes ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 8805780 Rhoa ras homolog family member A gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347797 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8805780 Rhoa ras homolog family member A gene DOID:9002704 Leukoencephalopathies ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 8805780 Rhoa ras homolog family member A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression:microglial cell, brain PMID:17983427|REF_RGD_ID:2298887 8805780 Rhoa ras homolog family member A gene DOID:9003047 ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES ISO RGD:1347797 D RGD:7240710 20210818 OMIM 8805780 Rhoa ras homolog family member A gene DOID:9003047 ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC | ClinVar Annotator: match by term: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies PMID:25741868|PMID:31570889 8805780 Rhoa ras homolog family member A gene DOID:9003936 Cardiomegaly ISO RGD:619921 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased activation:heart PMID:17184496|REF_RGD_ID:1642810 8805780 Rhoa ras homolog family member A gene DOID:9003936 Cardiomegaly ISO RGD:731060 D RGD:9068941 20200609 RGD protein:increased expression:cardiac muscle cell PMID:17316608|REF_RGD_ID:1642807 8805780 Rhoa ras homolog family member A gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737|PMID:24584070 8805780 Rhoa ras homolog family member A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19896475 8805780 Rhoa ras homolog family member A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:619921 D RGD:9068941 20200609 RGD PMID:17316608|REF_RGD_ID:1642807 8805780 Rhoa ras homolog family member A gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1347797 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal/urinary system PMID:12581011|REF_RGD_ID:1547861 8805780 Rhoa ras homolog family member A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 8805780 Rhoa ras homolog family member A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619921 D RGD:9068941 20200609 RGD PMID:17589825|REF_RGD_ID:1642825 8805780 Rhoa ras homolog family member A gene DOID:9005660 Hypopigmentation ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 8805780 Rhoa ras homolog family member A gene DOID:9006205 Animal Disease Models ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 8805780 Rhoa ras homolog family member A gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression:spinal ganglion, macrophage, T cell PMID:17367505|REF_RGD_ID:1642966 8805780 Rhoa ras homolog family member A gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 8805780 Rhoa ras homolog family member A gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619921 D RGD:9068941 20200609 RGD protein:altered localization:heart PMID:17322412|REF_RGD_ID:1642967 8805780 Rhoa ras homolog family member A gene DOID:9008091 Optic Nerve Injuries ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:retina PMID:17534117|REF_RGD_ID:1642826 8805780 Rhoa ras homolog family member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 8805780 Rhoa ras homolog family member A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 8805780 Rhoa ras homolog family member A gene DOID:9008939 Breast Neoplasms ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:26619011 8805780 Rhoa ras homolog family member A gene DOID:9256 colorectal cancer ISO RGD:1347797 D RGD:9068941 20200609 RGD PMID:17597401|REF_RGD_ID:13432052 8805780 Rhoa ras homolog family member A gene DOID:9268 glycine encephalopathy ISO RGD:1347797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 8805780 Rhoa ras homolog family member A gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:619921 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8805780 Rhoa ras homolog family member A gene DOID:987 alopecia ISO RGD:1347797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570889 8805780 Rhoa ras homolog family member A gene DOID:9970 obesity ISO RGD:619921 D RGD:9068941 20200609 RGD protein:increased expression:membrane, aorta, skeletal muscle PMID:16267124|REF_RGD_ID:2298881 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0080207 CAKUT2 treatment ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:27448803|REF_RGD_ID:13204792 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0080600 COVID-19 ISO RGD:1347215 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10588 adrenoleukodystrophy severity ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:23185624|REF_RGD_ID:13204814 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10591 pre-eclampsia ISO RGD:1347215 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta PMID:17083831|REF_RGD_ID:2290399 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10763 hypertension ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10763 hypertension ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:19506087|REF_RGD_ID:2312464 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10763 hypertension ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:17977875|REF_RGD_ID:2290351 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10808 gastric ulcer ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:15375341|REF_RGD_ID:10043177 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:10941 intracranial aneurysm ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:17569872|REF_RGD_ID:2290352 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:114 heart disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23558518 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:114 heart disease ISO RGD:621675 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart PMID:19134282|REF_RGD_ID:2312465 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:12849 autistic disorder ISO RGD:1347215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:13378 Kawasaki disease ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12626459|REF_RGD_ID:1580170 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:13580 cholestasis ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:8707259|REF_RGD_ID:2290364 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:14250 Down syndrome ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:24519975|REF_RGD_ID:13204810 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:1485 cystic fibrosis ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:25545245|REF_RGD_ID:13204794 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:17114213|PMID:17478562|REF_RGD_ID:2290345|REF_RGD_ID:2290348 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18172859|REF_RGD_ID:2290343 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:178 vascular disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569694 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:178 vascular disease ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:17569694|REF_RGD_ID:2290353 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:182 calcinosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:731433 D RGD:9068941 20230330 RGD PMID:31757932|REF_RGD_ID:242905202 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:2006 preretinal fibrosis ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:11004090|REF_RGD_ID:2312481 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:2378 relapsing-remitting multiple sclerosis treatment ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:16412833|REF_RGD_ID:13204825 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17695443|REF_RGD_ID:2298520 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16901349|REF_RGD_ID:2290349 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12487935|REF_RGD_ID:2298523 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:25842729|REF_RGD_ID:13207319 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21468558 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:23318412|REF_RGD_ID:13204970 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:4079 heart valve disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:417 autoimmune disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11595703|REF_RGD_ID:2290350 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:57 aortic valve insufficiency ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:5773 oral submucous fibrosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:6000 congestive heart failure ISO RGD:621675 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:10773234|REF_RGD_ID:2290467 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:630 genetic disease ISO RGD:1347215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:799 varicose veins ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:893 Wilson disease ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26241054 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:90 degenerative disc disease treatment ISO RGD:621675 D RGD:9068941 20200609 RGD associated with Renal Insufficiency PMID:19063844|REF_RGD_ID:10043178 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347215 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium PMID:12487935|REF_RGD_ID:2298523 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347215 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:plasma PMID:17407159|REF_RGD_ID:2290346 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9000998 Brain Injuries ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, astrocytes PMID:10719361|REF_RGD_ID:2290468 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16507762|PMID:16718785|PMID:16762003|PMID:21163135|PMID:25380136 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8707259|REF_RGD_ID:2290364 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9001600 Wounds and Injuries ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:16683235|REF_RGD_ID:1600154 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:621675 D RGD:9068941 20230803 RGD PMID:16141011|REF_RGD_ID:401717565 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9002884 Emphysema treatment ISO RGD:621675 D RGD:9068941 20200609 RGD PMID:22633097|REF_RGD_ID:13207325 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1318976 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9005372 Inflammation ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569694 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21963884 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347215 D RGD:9068941 20200609 RGD PMID:17192464|REF_RGD_ID:2312467 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621675 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17569353|REF_RGD_ID:2290354 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9006205 Animal Disease Models ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9007096 Stroke ISO RGD:621675 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:9472898|REF_RGD_ID:2290356 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9007480 Hyperoxia ISO RGD:621675 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15128910|REF_RGD_ID:8547972 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:731433 D RGD:9068941 20200609 RGD PMID:24739303|REF_RGD_ID:13204791 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9351 diabetes mellitus ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:19506087|REF_RGD_ID:2312464 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023759 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16005367|REF_RGD_ID:1580148 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9446 cholangitis ISO RGD:1347215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17020653|REF_RGD_ID:2312468 8805802 Timp1 TIMP metallopeptidase inhibitor 1 gene DOID:9970 obesity ISO RGD:1347215 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17512313|REF_RGD_ID:1642026 8805826 Gpr52 G protein-coupled receptor 52 gene DOID:1540 parathyroid carcinoma ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8805826 Gpr52 G protein-coupled receptor 52 gene DOID:3755 antithrombin III deficiency ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8805826 Gpr52 G protein-coupled receptor 52 gene DOID:630 genetic disease ISO RGD:1353875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805826 Gpr52 G protein-coupled receptor 52 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8805826 Gpr52 G protein-coupled receptor 52 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8805844 Ust uronyl 2-sulfotransferase gene DOID:0060224 atrial fibrillation ISO RGD:1312363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8805844 Ust uronyl 2-sulfotransferase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1312363 D RGD:9068941 20231109 RGD DNA:SNP:CDS:mutiple (human) PMID:35642741|REF_RGD_ID:401854249 8805844 Ust uronyl 2-sulfotransferase gene DOID:289 endometriosis ISO RGD:1312363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8805844 Ust uronyl 2-sulfotransferase gene DOID:630 genetic disease ISO RGD:1312363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805859 Pclaf PCNA clamp associated factor gene DOID:0110935 nemaline myopathy 6 ISO RGD:1353661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8805859 Pclaf PCNA clamp associated factor gene DOID:2717 Bloom syndrome ISO RGD:1353661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8805859 Pclaf PCNA clamp associated factor gene DOID:630 genetic disease ISO RGD:1353661 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805859 Pclaf PCNA clamp associated factor gene DOID:684 hepatocellular carcinoma ISO RGD:1353661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8805859 Pclaf PCNA clamp associated factor gene DOID:9256 colorectal cancer ISO RGD:1353661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8805883 Clybl citramalyl-CoA lyase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 8805883 Clybl citramalyl-CoA lyase gene DOID:14701 propionic acidemia ISO RGD:1312156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8805883 Clybl citramalyl-CoA lyase gene DOID:4621 holoprosencephaly ISO RGD:1312156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 8805883 Clybl citramalyl-CoA lyase gene DOID:630 genetic disease ISO RGD:1312156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805883 Clybl citramalyl-CoA lyase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8805897 Wdfy1 WD repeat and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1314357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805897 Wdfy1 WD repeat and FYVE domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1606265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8805946 Aurkaip1 aurora kinase A interacting protein 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8805961 Ddx51 DEAD-box helicase 51 gene DOID:1790 malignant mesothelioma ISO RGD:1319993 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 8805961 Ddx51 DEAD-box helicase 51 gene DOID:630 genetic disease ISO RGD:1319993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805961 Ddx51 DEAD-box helicase 51 gene DOID:9256 colorectal cancer ISO RGD:1319993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8805981 Cstf2 cleavage stimulation factor subunit 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8805981 Cstf2 cleavage stimulation factor subunit 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1351144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 8805981 Cstf2 cleavage stimulation factor subunit 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1351144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8805981 Cstf2 cleavage stimulation factor subunit 2 gene DOID:12849 autistic disorder ISO RGD:1351144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8805981 Cstf2 cleavage stimulation factor subunit 2 gene DOID:630 genetic disease ISO RGD:1351144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8805981 Cstf2 cleavage stimulation factor subunit 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1351144 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 8805981 Cstf2 cleavage stimulation factor subunit 2 gene DOID:9008931 X-Linked Intellectual Developmental Disorder 113 ISO RGD:1351144 D RGD:7240710 20240214 OMIM 8805981 Cstf2 cleavage stimulation factor subunit 2 gene DOID:9008931 X-Linked Intellectual Developmental Disorder 113 ISO RGD:1351144 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 113 PMID:32816001 8806010 CUNH1orf210 chromosome unknown C1orf210 homolog gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8806010 CUNH1orf210 chromosome unknown C1orf210 homolog gene DOID:630 genetic disease ISO RGD:1603568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806010 CUNH1orf210 chromosome unknown C1orf210 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1305347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8806032 Megf8 multiple EGF like domains 8 gene DOID:0050545 visceral heterotaxy ISO RGD:737435 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8806032 Megf8 multiple EGF like domains 8 gene DOID:0060234 Carpenter syndrome ISO RGD:737434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 8806032 Megf8 multiple EGF like domains 8 gene DOID:1148 polydactyly ISO RGD:737434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:23063620|PMID:25741868|PMID:28914635|PMID:29168297 8806032 Megf8 multiple EGF like domains 8 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8806032 Megf8 multiple EGF like domains 8 gene DOID:1342 congenital hypoplastic anemia ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8806032 Megf8 multiple EGF like domains 8 gene DOID:2340 craniosynostosis ISO RGD:737434 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 PMID:23063620|PMID:25741868|PMID:28492532|PMID:28914635|PMID:29168297 8806032 Megf8 multiple EGF like domains 8 gene DOID:5419 schizophrenia ISO RGD:737434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8806032 Megf8 multiple EGF like domains 8 gene DOID:630 genetic disease ISO RGD:737434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8806032 Megf8 multiple EGF like domains 8 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737434 D RGD:7240710 20180130 OMIM 8806032 Megf8 multiple EGF like domains 8 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737434 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:16199547|PMID:17576681|PMID:23063620|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28914635|PMID:29168297|PMID:9536098 8806032 Megf8 multiple EGF like domains 8 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:737434 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:23063620|PMID:25741868|PMID:28914635|PMID:29168297 8806032 Megf8 multiple EGF like domains 8 gene DOID:9269 maple syrup urine disease ISO RGD:737434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732816 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:0112159 autosomal dominant nonsyndromic deafness 78 ISO RGD:732816 D RGD:7240710 20201111 OMIM 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:0112159 autosomal dominant nonsyndromic deafness 78 ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 78 PMID:32294086|PMID:32658972 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:10003 sensorineural hearing loss ISO RGD:732816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:34374074 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:1059 intellectual disability ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:10603 glucose intolerance ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22872759 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:10763 hypertension ISO RGD:620809 D RGD:9068941 20200609 RGD PMID:21814290|REF_RGD_ID:9587757 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:10763 hypertension ISO RGD:620809 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:15020309|REF_RGD_ID:1580582 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:10763 hypertension ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17259435 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:11832 visual epilepsy treatment ISO RGD:620809 D RGD:9068941 20200609 RGD PMID:16227993|REF_RGD_ID:1580584 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:1287 cardiovascular system disease ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135928 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:1826 epilepsy ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18550034 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:224 transient cerebral ischemia ISO RGD:620809 D RGD:9068941 20200609 RGD PMID:27798271|REF_RGD_ID:14398833 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:305 carcinoma ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19674083 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:732816 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:27798271|REF_RGD_ID:14398833 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620809 D RGD:9068941 20200609 RGD PMID:12535773|REF_RGD_ID:1580583 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:480 movement disease ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135928 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:630 genetic disease ISO RGD:732816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28940097|PMID:30740830|PMID:32754646|PMID:33345190 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:9002906 Multiple Organ Failure ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infant onset multiple organ failure 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:9004538 Hearing Loss ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:32294086|PMID:32658972 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:9004923 Delpire-McNeill Syndrome ISO RGD:732816 D RGD:7240710 20201111 OMIM 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:9004923 Delpire-McNeill Syndrome ISO RGD:732816 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Delpire-McNeill syndrome PMID:25741868|PMID:28492532|PMID:32658972 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:9006128 Kilquist Syndrome ISO RGD:732816 D RGD:7240710 20201111 OMIM 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:9006128 Kilquist Syndrome ISO RGD:732816 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kilquist syndrome PMID:25741868|PMID:28492532|PMID:30740830|PMID:32658972|PMID:32754646 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8806078 Slc12a2 solute carrier family 12 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8806108 Prob1 proline rich basic protein 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:5486560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8806108 Prob1 proline rich basic protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:5486560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8806108 Prob1 proline rich basic protein 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:5486560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8806108 Prob1 proline rich basic protein 1 gene DOID:630 genetic disease ISO RGD:5486560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8806108 Prob1 proline rich basic protein 1 gene DOID:9003318 Keratoconus 1 ISO RGD:5486560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 8806108 Prob1 proline rich basic protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5486560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8806108 Prob1 proline rich basic protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5486560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8806108 Prob1 proline rich basic protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5486560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8806117 LOC102024459 arpin gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:5013871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8806117 LOC102024459 arpin gene DOID:1826 epilepsy ISO RGD:5013871 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8806117 LOC102024459 arpin gene DOID:2717 Bloom syndrome ISO RGD:5013871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8806117 LOC102024459 arpin gene DOID:630 genetic disease ISO RGD:5013871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806117 LOC102024459 arpin gene DOID:9256 colorectal cancer ISO RGD:5013871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8806136 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:10892 hypospadias ISO RGD:733231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 8806136 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:12849 autistic disorder ISO RGD:733231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 8806136 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:733231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8806136 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:3307 teratoma ISO RGD:733231 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8806136 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8806136 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:630 genetic disease ISO RGD:733231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases 8806136 Snd1 staphylococcal nuclease and tudor domain containing 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25940438 8806182 Tysnd1 trypsin like peroxisomal matrix peptidase 1 gene DOID:630 genetic disease ISO RGD:1316504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806191 Erich6 glutamate rich 6 gene DOID:0050579 glycogen storage disease XV ISO RGD:1605578 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8806191 Erich6 glutamate rich 6 gene DOID:630 genetic disease ISO RGD:1605578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806214 Ppp6r2 protein phosphatase 6 regulatory subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8806214 Ppp6r2 protein phosphatase 6 regulatory subunit 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1347490 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8806214 Ppp6r2 protein phosphatase 6 regulatory subunit 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8806214 Ppp6r2 protein phosphatase 6 regulatory subunit 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8806214 Ppp6r2 protein phosphatase 6 regulatory subunit 2 gene DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 PMID:23749797|PMID:33987933 8806214 Ppp6r2 protein phosphatase 6 regulatory subunit 2 gene DOID:10283 prostate cancer ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8806214 Ppp6r2 protein phosphatase 6 regulatory subunit 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1347490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8806214 Ppp6r2 protein phosphatase 6 regulatory subunit 2 gene DOID:1059 intellectual disability ISO RGD:1347490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8806214 Ppp6r2 protein phosphatase 6 regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1347490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806269 Srsf5 serine and arginine rich splicing factor 5 gene DOID:1612 breast cancer severity ISO RGD:734021 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:17651715|REF_RGD_ID:11039450 8806269 Srsf5 serine and arginine rich splicing factor 5 gene DOID:234 colon adenocarcinoma ISO RGD:734021 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (human) PMID:9865741|REF_RGD_ID:11039405 8806269 Srsf5 serine and arginine rich splicing factor 5 gene DOID:3602 toxic encephalopathy ISO RGD:734021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8806269 Srsf5 serine and arginine rich splicing factor 5 gene DOID:409 liver disease ISO RGD:734021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8806269 Srsf5 serine and arginine rich splicing factor 5 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:734021 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 8806269 Srsf5 serine and arginine rich splicing factor 5 gene DOID:630 genetic disease ISO RGD:734021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806269 Srsf5 serine and arginine rich splicing factor 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734021 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 8806287 Nom1 nucleolar protein with MIF4G domain 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 8806287 Nom1 nucleolar protein with MIF4G domain 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1345070 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 8806287 Nom1 nucleolar protein with MIF4G domain 1 gene DOID:12849 autistic disorder ISO RGD:1345070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8806287 Nom1 nucleolar protein with MIF4G domain 1 gene DOID:630 genetic disease ISO RGD:1345070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806302 Lrpprc leucine rich pentatricopeptide repeat containing gene DOID:0090019 sitosterolemia ISO RGD:1315270 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:28492532 8806302 Lrpprc leucine rich pentatricopeptide repeat containing gene DOID:0111180 French Canadian Leigh disease ISO RGD:1315270 D RGD:7240710 20180130 OMIM 8806302 Lrpprc leucine rich pentatricopeptide repeat containing gene DOID:0111180 French Canadian Leigh disease ISO RGD:1315270 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cox deficiency, French Canadian type | ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian PMID:12529507|PMID:15139850|PMID:16199547|PMID:17050673|PMID:17576681|PMID:18414213|PMID:20200222|PMID:21266382|PMID:21437181|PMID:22494076|PMID:24033266|PMID:25741868|PMID:26510951|PMID:26741492|PMID:27408822|PMID:27574110|PMID:28492532|PMID:29152527|PMID:31308188|PMID:32962729|PMID:33658040|PMID:34440436|PMID:9536098 8806302 Lrpprc leucine rich pentatricopeptide repeat containing gene DOID:1059 intellectual disability ISO RGD:1315270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8806302 Lrpprc leucine rich pentatricopeptide repeat containing gene DOID:1826 epilepsy ISO RGD:1315270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8806302 Lrpprc leucine rich pentatricopeptide repeat containing gene DOID:3652 Leigh disease ISO RGD:1315270 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 8806302 Lrpprc leucine rich pentatricopeptide repeat containing gene DOID:3883 Lynch syndrome ISO RGD:1315270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8806302 Lrpprc leucine rich pentatricopeptide repeat containing gene DOID:630 genetic disease ISO RGD:1315270 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:34440436|PMID:9536098 8806302 Lrpprc leucine rich pentatricopeptide repeat containing gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1315270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:28492532 8806346 Kng1 kininogen 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1603713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 8806346 Kng1 kininogen 1 gene DOID:0060903 thrombosis ISO RGD:1603713 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 8806346 Kng1 kininogen 1 gene DOID:0080941 acquired angioedema ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9734886 8806346 Kng1 kininogen 1 gene DOID:0111676 high molecular weight kininogen deficiency ISO RGD:1603713 D RGD:7240710 20180130 OMIM 8806346 Kng1 kininogen 1 gene DOID:0111676 high molecular weight kininogen deficiency ISO RGD:1603713 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: High molecular weight kininogen deficiency | ClinVar Annotator: match by term: Kininogen deficiency, total PMID:1202089|PMID:12576314|PMID:17522339|PMID:1968772|PMID:25741868|PMID:32202057|PMID:36700498|PMID:7901207 8806346 Kng1 kininogen 1 gene DOID:10763 hypertension ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7027322 8806346 Kng1 kininogen 1 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:1603713 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26098644|REF_RGD_ID:11059888 8806346 Kng1 kininogen 1 gene DOID:1205 allergic disease ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11160071 8806346 Kng1 kininogen 1 gene DOID:14735 hereditary angioedema ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9734886 8806346 Kng1 kininogen 1 gene DOID:3021 acute kidney failure ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3015452|PMID:513486 8806346 Kng1 kininogen 1 gene DOID:4404 occupational dermatitis ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 8806346 Kng1 kininogen 1 gene DOID:630 genetic disease ISO RGD:1603713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806346 Kng1 kininogen 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2535056 8806346 Kng1 kininogen 1 gene DOID:9000197 Edema ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9719496 8806346 Kng1 kininogen 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 8806346 Kng1 kininogen 1 gene DOID:9000641 Pain ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445233|PMID:10543429|PMID:1281941|PMID:16076651|PMID:20018876|PMID:29655911|PMID:3951883 8806346 Kng1 kininogen 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18054572 8806346 Kng1 kininogen 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1603713 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :7965C>T (human) PMID:17065357|REF_RGD_ID:2311541 8806346 Kng1 kininogen 1 gene DOID:9002211 Hyperalgesia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:10499367|PMID:10543429|PMID:15626726|PMID:16259764|PMID:16793879|PMID:18234883|PMID:2010815|PMID:2128375|PMID:21521205|PMID:3061568|PMID:7493622|PMID:7582491|PMID:7881729|PMID:9714424|PMID:9720808 8806346 Kng1 kininogen 1 gene DOID:9002291 Hereditary Angioedema 6 ISO RGD:1603713 D RGD:7240710 20210616 OMIM 8806346 Kng1 kininogen 1 gene DOID:9002291 Hereditary Angioedema 6 ISO RGD:1603713 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 6 PMID:25741868|PMID:31087670|PMID:33114181 8806346 Kng1 kininogen 1 gene DOID:9002554 Tachycardia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7027322 8806346 Kng1 kininogen 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:1603713 D RGD:9068941 20200609 RGD DNA:SNP: :rs710446 (human) PMID:25472531|REF_RGD_ID:11059890 8806346 Kng1 kininogen 1 gene DOID:9005236 Drug Eruptions ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1371395|PMID:3034372 8806346 Kng1 kininogen 1 gene DOID:9006024 Hypotension ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10805402|PMID:1334354|PMID:14744816|PMID:16321614|PMID:18084312|PMID:21420289|PMID:2404862|PMID:6675575|PMID:9249246 8806346 Kng1 kininogen 1 gene DOID:9006205 Animal Disease Models ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 8806346 Kng1 kininogen 1 gene DOID:9007001 Bradycardia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1281941 8806346 Kng1 kininogen 1 gene DOID:9007073 Cough ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22693178 8806346 Kng1 kininogen 1 gene DOID:9007096 Stroke susceptibility ISO RGD:1603713 D RGD:9068941 20200609 RGD DNA:SNP: :rs710446(human) PMID:26159646|REF_RGD_ID:10411883 8806346 Kng1 kininogen 1 gene DOID:9007251 Hyperesthesia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8190269 8806346 Kng1 kininogen 1 gene DOID:9007278 Anaphylaxis ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7623993 8806346 Kng1 kininogen 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20362651|PMID:30685357 8806346 Kng1 kininogen 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2535056|PMID:7856280 8806346 Kng1 kininogen 1 gene DOID:9007925 Sudden Cardiac Death susceptibility ISO RGD:1603713 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19716087|REF_RGD_ID:10411885 8806346 Kng1 kininogen 1 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9622145 8806346 Kng1 kininogen 1 gene DOID:9009039 Hyperemia ISO RGD:1603713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11837250 8806346 Kng1 kininogen 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy severity ISO RGD:1603713 D RGD:9068941 20200609 RGD protein:increased expression:vitreous,serum: PMID:23808406|REF_RGD_ID:10411880 8806374 Chrm1 cholinergic receptor muscarinic 1 gene DOID:0050214 Lambert-Eaton myasthenic syndrome ISO RGD:731068 D RGD:9068941 20200609 RGD PMID:17764462|REF_RGD_ID:5133415 8806374 Chrm1 cholinergic receptor muscarinic 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:731068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8806374 Chrm1 cholinergic receptor muscarinic 1 gene DOID:1059 intellectual disability ISO RGD:731068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8806374 Chrm1 cholinergic receptor muscarinic 1 gene DOID:1826 epilepsy ISO RGD:731068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18333967 8806374 Chrm1 cholinergic receptor muscarinic 1 gene DOID:2316 brain ischemia ISO RGD:731068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18501976 8806374 Chrm1 cholinergic receptor muscarinic 1 gene DOID:2841 asthma ISO RGD:731068 D RGD:9068941 20200609 RGD PMID:16931638|REF_RGD_ID:5133416 8806374 Chrm1 cholinergic receptor muscarinic 1 gene DOID:437 myasthenia gravis ISO RGD:731068 D RGD:9068941 20200609 RGD PMID:17764462|REF_RGD_ID:5133415 8806374 Chrm1 cholinergic receptor muscarinic 1 gene DOID:630 genetic disease ISO RGD:731068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806374 Chrm1 cholinergic receptor muscarinic 1 gene DOID:9006836 Contracture ISO RGD:731068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868 8806374 Chrm1 cholinergic receptor muscarinic 1 gene DOID:9008023 Memory Disorders ISO RGD:731068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21682298 8806374 Chrm1 cholinergic receptor muscarinic 1 gene DOID:9008023 Memory Disorders ISO RGD:731069 D RGD:9068941 20200609 RGD PMID:12483218|REF_RGD_ID:734777 8806398 Acox2 acyl-CoA oxidase 2 gene DOID:0111067 congenital bile acid synthesis defect 6 ISO RGD:735528 D RGD:7240710 20190315 OMIM 8806398 Acox2 acyl-CoA oxidase 2 gene DOID:0111067 congenital bile acid synthesis defect 6 ISO RGD:735528 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ACOX2-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 6 PMID:16199547|PMID:25741868|PMID:27647924|PMID:27884763|PMID:28492532|PMID:35395098|PMID:35775617 8806398 Acox2 acyl-CoA oxidase 2 gene DOID:630 genetic disease ISO RGD:735528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8806398 Acox2 acyl-CoA oxidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8806398 Acox2 acyl-CoA oxidase 2 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:735528 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8806420 Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:0060653 lethal congenital contracture syndrome 3 ISO RGD:1320550 D RGD:7240710 20180130 OMIM 8806420 Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:0060653 lethal congenital contracture syndrome 3 ISO RGD:1320550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 PMID:17701898|PMID:25741868 8806420 Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:630 genetic disease ISO RGD:1320550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8806420 Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320550 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Novel PIP5K1C-related neurodevelopmental disorder PMID:25741868 8806450 Tsr3 TSR3 ribosome maturation factor gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1352414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8806450 Tsr3 TSR3 ribosome maturation factor gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1352414 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8806450 Tsr3 TSR3 ribosome maturation factor gene DOID:1826 epilepsy ISO RGD:1352414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 8806450 Tsr3 TSR3 ribosome maturation factor gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1352414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8806450 Tsr3 TSR3 ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1352414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806465 Galnt18 polypeptide N-acetylgalactosaminyltransferase 18 gene DOID:630 genetic disease ISO RGD:1347297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806465 Galnt18 polypeptide N-acetylgalactosaminyltransferase 18 gene DOID:9001345 Okur-Chung Neurodevelopmental Syndrome ISO RGD:1347297 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome PMID:25741868 8806480 Eif4b eukaryotic translation initiation factor 4B gene DOID:0060041 autism spectrum disorder ISO RGD:1315118 D RGD:9068941 20200609 RGD protein:decreased expression:fusiform gyrus PMID:25627160|REF_RGD_ID:11049140 8806480 Eif4b eukaryotic translation initiation factor 4B gene DOID:1470 major depressive disorder ISO RGD:1315118 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex PMID:21635931|REF_RGD_ID:11049139 8806480 Eif4b eukaryotic translation initiation factor 4B gene DOID:630 genetic disease ISO RGD:1315118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806509 Ptpn20 protein tyrosine phosphatase non-receptor type 20 gene DOID:5419 schizophrenia ISO RGD:1353047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8806509 Ptpn20 protein tyrosine phosphatase non-receptor type 20 gene DOID:630 genetic disease ISO RGD:1353047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806556 LOC102010861 chromosome unknown open reading frame, human C1orf94 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8806556 LOC102010861 chromosome unknown open reading frame, human C1orf94 gene DOID:630 genetic disease ISO RGD:1602848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806577 Ankrd24 ankyrin repeat domain 24 gene DOID:13938 amenorrhea ISO RGD:1322819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8806577 Ankrd24 ankyrin repeat domain 24 gene DOID:630 genetic disease ISO RGD:1322819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806604 Acot12 acyl-CoA thioesterase 12 gene DOID:3571 liver cancer ISO RGD:619752 D RGD:9068941 20200609 RGD PMID:2566591|REF_RGD_ID:13831129 8806604 Acot12 acyl-CoA thioesterase 12 gene DOID:630 genetic disease ISO RGD:736721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806604 Acot12 acyl-CoA thioesterase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8806623 Ube2b ubiquitin conjugating enzyme E2 B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8806623 Ube2b ubiquitin conjugating enzyme E2 B gene DOID:630 genetic disease ISO RGD:1349526 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806623 Ube2b ubiquitin conjugating enzyme E2 B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8806623 Ube2b ubiquitin conjugating enzyme E2 B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8806623 Ube2b ubiquitin conjugating enzyme E2 B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8806657 Itgav integrin subunit alpha V gene DOID:0050852 limb ischemia ISO RGD:1617623 D RGD:9068941 20200609 RGD PMID:15750161|REF_RGD_ID:1582449 8806657 Itgav integrin subunit alpha V gene DOID:10763 hypertension ISO RGD:1310613 D RGD:9068941 20200609 RGD protein:increased expression:artery PMID:16380536|REF_RGD_ID:1627642 8806657 Itgav integrin subunit alpha V gene DOID:11382 corneal neovascularization ISO RGD:1310613 D RGD:9068941 20200609 RGD PMID:10664059|REF_RGD_ID:1582461 8806657 Itgav integrin subunit alpha V gene DOID:326 ischemia ISO RGD:1310613 D RGD:9068941 20200609 RGD PMID:15956135|REF_RGD_ID:1582457 8806657 Itgav integrin subunit alpha V gene DOID:4195 hyperglycemia ISO RGD:1321618 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel endothelial cell PMID:11848444|REF_RGD_ID:1627644 8806657 Itgav integrin subunit alpha V gene DOID:4248 coronary stenosis ISO RGD:1310613 D RGD:9068941 20200609 RGD PMID:11922905|REF_RGD_ID:1582454 8806657 Itgav integrin subunit alpha V gene DOID:630 genetic disease ISO RGD:1321618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806657 Itgav integrin subunit alpha V gene DOID:7693 abdominal aortic aneurysm ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:16809548|REF_RGD_ID:1582446 8806657 Itgav integrin subunit alpha V gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:1310613 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8806657 Itgav integrin subunit alpha V gene DOID:9001044 Choroidal Neovascularization ISO RGD:1310613 D RGD:9068941 20200609 RGD PMID:15287373|REF_RGD_ID:1582458 8806657 Itgav integrin subunit alpha V gene DOID:9002170 Experimental Neoplasms treatment ISO RGD:1321618 D RGD:9068941 20220708 RGD human cells in rat model PMID:20841470|REF_RGD_ID:152998949 8806657 Itgav integrin subunit alpha V gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1321618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 8806657 Itgav integrin subunit alpha V gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:16102435|REF_RGD_ID:1582447 8806657 Itgav integrin subunit alpha V gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8806657 Itgav integrin subunit alpha V gene DOID:9006182 Carotid Artery Injuries ISO RGD:1310613 D RGD:9068941 20230527 RGD mRNA:increased expression:carotic artery (rat) PMID:9622270|REF_RGD_ID:329845558 8806657 Itgav integrin subunit alpha V gene DOID:9006646 Metabolic Syndrome ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:16784924|REF_RGD_ID:1627640 8806657 Itgav integrin subunit alpha V gene DOID:9007096 Stroke ISO RGD:1321618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 8806657 Itgav integrin subunit alpha V gene DOID:9007102 Myocardial Ischemia ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:11997283|REF_RGD_ID:1582453 8806657 Itgav integrin subunit alpha V gene DOID:9007748 Retinal Neovascularization ISO RGD:1617623 D RGD:9068941 20200609 RGD PMID:12063036|REF_RGD_ID:1582452 8806657 Itgav integrin subunit alpha V gene DOID:9009121 lung metastasis treatment ISO RGD:1321618 D RGD:9068941 20220708 RGD human cells in rat model PMID:20841470|REF_RGD_ID:152998949 8806657 Itgav integrin subunit alpha V gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1321618 D RGD:9068941 20200609 RGD PMID:23770013|REF_RGD_ID:10755448 8806691 Kif1a kinesin family member 1A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25265257|PMID:25326635|PMID:25741868|PMID:26125038|PMID:26354034|PMID:28492532|PMID:28554332|PMID:32935419|PMID:33880452 8806691 Kif1a kinesin family member 1A gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:25741868|PMID:26467025|PMID:28492532 8806691 Kif1a kinesin family member 1A gene DOID:0050888 syndromic intellectual disability ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452 8806691 Kif1a kinesin family member 1A gene DOID:0050890 synucleinopathy ISO RGD:1304996 D RGD:9068941 20200609 RGD PMID:19295143|REF_RGD_ID:11049591 8806691 Kif1a kinesin family member 1A gene DOID:0050952 spastic ataxia ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 8806691 Kif1a kinesin family member 1A gene DOID:0070039 NESCAV syndrome ISO RGD:1312759 D RGD:7240710 20180130 OMIM 8806691 Kif1a kinesin family member 1A gene DOID:0070039 NESCAV syndrome ISO RGD:1312759 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 9 | ClinVar Annotator: match by term: NESCAV SYNDROME PMID:17576681|PMID:21376300|PMID:21820098|PMID:25253658|PMID:25265257|PMID:25326635|PMID:25533962|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26994895|PMID:27034427|PMID:27124789|PMID:27146152|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29915382|PMID:30144970|PMID:30385166|PMID:30564185|PMID:31488895|PMID:31616253|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32746806|PMID:32860008|PMID:33717719|PMID:33753861|PMID:33880452|PMID:34356170|PMID:9536098 8806691 Kif1a kinesin family member 1A gene DOID:0070147 hereditary sensory neuropathy type 2C ISO RGD:1312759 D RGD:7240710 20180130 OMIM 8806691 Kif1a kinesin family member 1A gene DOID:0070147 hereditary sensory neuropathy type 2C ISO RGD:1312759 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 2C PMID:17576681|PMID:21376300|PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26077850|PMID:26354034|PMID:26467025|PMID:27034427|PMID:27146152|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28708303|PMID:28970574|PMID:29915382|PMID:31488895|PMID:31616253|PMID:9536098 8806691 Kif1a kinesin family member 1A gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:21820098|PMID:22258533|PMID:25265257|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:28106320|PMID:28492532|PMID:28554332|PMID:28970574|PMID:30564185|PMID:31616253|PMID:32096284|PMID:32860008 8806691 Kif1a kinesin family member 1A gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1312759 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29691679 8806691 Kif1a kinesin family member 1A gene DOID:0080539 PEHO syndrome ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PEHO syndrome PMID:21376300|PMID:25253658|PMID:25265257|PMID:25533962|PMID:25741868|PMID:26125038|PMID:26486474|PMID:28492532|PMID:31805580|PMID:33880452 8806691 Kif1a kinesin family member 1A gene DOID:0081120 Graves ophthalmopathy ISO RGD:1312759 D RGD:9068941 20200609 RGD PMID:26451909|REF_RGD_ID:12911230 8806691 Kif1a kinesin family member 1A gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1312759 D RGD:7240710 20180130 OMIM 8806691 Kif1a kinesin family member 1A gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1312759 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive PMID:16081310|PMID:16199547|PMID:16434418|PMID:17576681|PMID:18414213|PMID:20020533|PMID:20691407|PMID:21376300|PMID:21384162|PMID:21487076|PMID:21820098|PMID:22258533|PMID:24088041|PMID:24715439|PMID:25140959|PMID:25253658|PMID:25265257|PMID:25326635|PMID:25533962|PMID:25585697|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26350204|PMID:26354034|PMID:26410750|PMID:26467025|PMID:26486474|PMID:26633545|PMID:26752160|PMID:26994895|PMID:27034427|PMID:27124789|PMID:27146152|PMID:27681307|PMID:28106320|PMID:28333917|PMID:28362824|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28832565|PMID:28834584|PMID:28970574|PMID:29159194|PMID:29590070|PMID:29691679|PMID:29915382|PMID:29934652|PMID:30144970|PMID:30385166|PMID:30564185|PMID:30848064|PMID:31069529|PMID:31227335|PMID:31455732|PMID:31488895|PMID:31616253|PMID:31628766|PMID:31785789|PMID:31796088|PMID:31805580|PMID:31813911|PMID:32096284|PMID:32746806|PMID:32860008|PMID:32935419|PMID:33717719|PMID:33753861|PMID:33880452|PMID:34354735|PMID:34356170|PMID:34487232|PMID:34782662|PMID:35132656|PMID:36284339|PMID:9536098 8806691 Kif1a kinesin family member 1A gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1312759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8806691 Kif1a kinesin family member 1A gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8806691 Kif1a kinesin family member 1A gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1312759 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8806691 Kif1a kinesin family member 1A gene DOID:1059 intellectual disability ISO RGD:1312759 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26077850|PMID:26467025|PMID:28492532|PMID:29691679 8806691 Kif1a kinesin family member 1A gene DOID:12849 autistic disorder ISO RGD:1312759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 8806691 Kif1a kinesin family member 1A gene DOID:1826 epilepsy ISO RGD:1312759 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8806691 Kif1a kinesin family member 1A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:31488895|PMID:32096284|PMID:32860008 8806691 Kif1a kinesin family member 1A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:31488895|PMID:31796088|PMID:32096284|PMID:32860008|PMID:33880452 8806691 Kif1a kinesin family member 1A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312759 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:17576681|PMID:21376300|PMID:25265257|PMID:25585697|PMID:25741868|PMID:26077850|PMID:26125038|PMID:26354034|PMID:26410750|PMID:26467025|PMID:27034427|PMID:27681307|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29159194|PMID:29590070|PMID:29691679|PMID:31488895|PMID:31796088|PMID:32096284|PMID:32860008|PMID:33880452|PMID:9536098 8806691 Kif1a kinesin family member 1A gene DOID:2785 Dandy-Walker syndrome ISO RGD:1312759 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868|PMID:28492532 8806691 Kif1a kinesin family member 1A gene DOID:607 paraplegia ISO RGD:1312759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17576681|PMID:24088041|PMID:25265257|PMID:25326635|PMID:25741868|PMID:26125038|PMID:26354034|PMID:26467025|PMID:26633545|PMID:28492532|PMID:28554332|PMID:28834584|PMID:32935419|PMID:33880452|PMID:9536098 8806691 Kif1a kinesin family member 1A gene DOID:630 genetic disease ISO RGD:1312759 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:21376300|PMID:25209998|PMID:25265257|PMID:25533962|PMID:25741868|PMID:25975756|PMID:26125038|PMID:26350204|PMID:26354034|PMID:26467025|PMID:26486474|PMID:27034427|PMID:27146152|PMID:27681307|PMID:28106320|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28832565|PMID:28970574|PMID:29589274|PMID:29590070|PMID:29691679|PMID:29915382|PMID:30564185|PMID:31488895|PMID:31628766|PMID:31805580|PMID:32096284|PMID:32860008|PMID:33880452|PMID:9536098 8806691 Kif1a kinesin family member 1A gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1312759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8806691 Kif1a kinesin family member 1A gene DOID:9005219 Abnormal Reflexes ISO RGD:1312759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:25741868|PMID:28492532|PMID:31488895 8806691 Kif1a kinesin family member 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1304996 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:23776493|REF_RGD_ID:11059542 8806691 Kif1a kinesin family member 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1312759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 8806691 Kif1a kinesin family member 1A gene DOID:9008582 Developmental Disease ISO RGD:1312759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8806691 Kif1a kinesin family member 1A gene DOID:9351 diabetes mellitus ISO RGD:1312759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23776493 8806768 Myot myotilin gene DOID:0050700 cardiomyopathy ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 8806768 Myot myotilin gene DOID:0060224 atrial fibrillation ISO RGD:1321551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8806768 Myot myotilin gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8806768 Myot myotilin gene DOID:0080094 myofibrillar myopathy 3 ISO RGD:1321551 D RGD:7240710 20180130 OMIM 8806768 Myot myotilin gene DOID:0080094 myofibrillar myopathy 3 ISO RGD:1321551 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 3 | ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction PMID:10958653|PMID:12428213|PMID:15111675|PMID:15947064|PMID:1598902|PMID:16199547|PMID:16380616|PMID:16684602|PMID:16793270|PMID:16801328|PMID:17221859|PMID:17576681|PMID:17784878|PMID:17931355|PMID:18335471|PMID:18414213|PMID:18653338|PMID:19225410|PMID:19240791|PMID:19590214|PMID:20301672|PMID:20981092|PMID:21336781|PMID:21361873|PMID:21676617|PMID:22021208|PMID:22106715|PMID:22349301|PMID:22995991|PMID:24033266|PMID:24781192|PMID:24928145|PMID:25208129|PMID:25617006|PMID:25741868|PMID:26257771|PMID:26342832|PMID:26467025|PMID:26842778|PMID:27618136|PMID:27854214|PMID:27884173|PMID:28403181|PMID:28492532|PMID:30055862|PMID:31404076|PMID:31407473|PMID:32041727|PMID:32419263|PMID:32528171|PMID:3275904|PMID:571956|PMID:9027924|PMID:9536098 8806768 Myot myotilin gene DOID:0080307 myofibrillar myopathy ISO RGD:1321551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:15111675|PMID:15947064|PMID:16684602|PMID:16793270|PMID:17784878|PMID:17931355|PMID:19225410|PMID:19590214|PMID:21361873|PMID:21676617|PMID:22021208|PMID:22349301|PMID:25741868|PMID:26467025|PMID:26842778|PMID:27618136|PMID:28492532|PMID:32041727 8806768 Myot myotilin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8806768 Myot myotilin gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1321551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8806768 Myot myotilin gene DOID:10283 prostate cancer ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8806768 Myot myotilin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1321551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant PMID:25741868|PMID:26467025|PMID:28492532 8806768 Myot myotilin gene DOID:574 peripheral nervous system disease ISO RGD:1321551 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15111675 8806768 Myot myotilin gene DOID:6000 congestive heart failure ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:19240791|PMID:25741868|PMID:26257771|PMID:26467025|PMID:28492532|PMID:31404076 8806768 Myot myotilin gene DOID:630 genetic disease ISO RGD:1321551 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8806768 Myot myotilin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8806768 Myot myotilin gene DOID:9005532 Muscle Weakness ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness 8806768 Myot myotilin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8806768 Myot myotilin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8806768 Myot myotilin gene DOID:9884 muscular dystrophy ISO RGD:1321551 D RGD:9068941 20200609 RGD Limb-Girdle Muscular Dystrophy LGMD1A, OMIM:159000 PMID:10958653|REF_RGD_ID:1599673 8806784 Klhl13 kelch like family member 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8806784 Klhl13 kelch like family member 13 gene DOID:12849 autistic disorder ISO RGD:1342476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8806784 Klhl13 kelch like family member 13 gene DOID:630 genetic disease ISO RGD:1342476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806811 Ppib peptidylprolyl isomerase B gene DOID:0110349 osteogenesis imperfecta type 9 ISO RGD:732990 D RGD:7240710 20180130 OMIM 8806811 Ppib peptidylprolyl isomerase B gene DOID:0110349 osteogenesis imperfecta type 9 ISO RGD:732990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 | ClinVar Annotator: match by term: PPIB-related condition PMID:19781681|PMID:20089953|PMID:20484404|PMID:21239989|PMID:21282188|PMID:25741868|PMID:27509835|PMID:28492532|PMID:29620724 8806811 Ppib peptidylprolyl isomerase B gene DOID:0110935 nemaline myopathy 6 ISO RGD:732990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8806811 Ppib peptidylprolyl isomerase B gene DOID:12347 osteogenesis imperfecta ISO RGD:732990 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:19781681|PMID:21239989|PMID:21282188|PMID:25741868|PMID:27509835|PMID:28242392|PMID:28492532|PMID:32392875|PMID:34659339|PMID:35583673 8806811 Ppib peptidylprolyl isomerase B gene DOID:2717 Bloom syndrome ISO RGD:732990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8806811 Ppib peptidylprolyl isomerase B gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8806811 Ppib peptidylprolyl isomerase B gene DOID:630 genetic disease ISO RGD:732990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8806811 Ppib peptidylprolyl isomerase B gene DOID:9256 colorectal cancer ISO RGD:732990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8806820 Rps6ka1 ribosomal protein S6 kinase A1 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:732451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29109170 8806820 Rps6ka1 ribosomal protein S6 kinase A1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:732451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8806820 Rps6ka1 ribosomal protein S6 kinase A1 gene DOID:630 genetic disease ISO RGD:732451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806820 Rps6ka1 ribosomal protein S6 kinase A1 gene DOID:8541 Sezary's disease ISO RGD:732451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 8806870 Tbl1x transducin beta like 1 X-linked gene DOID:0060041 autism spectrum disorder ISO RGD:1346534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050706 8806870 Tbl1x transducin beta like 1 X-linked gene DOID:0111837 congenital nongoitrous hypothyroidism 8 ISO RGD:1346534 D RGD:7240710 20191009 OMIM 8806870 Tbl1x transducin beta like 1 X-linked gene DOID:0111837 congenital nongoitrous hypothyroidism 8 ISO RGD:1346534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 8 PMID:25741868|PMID:27603907|PMID:30591955 8806870 Tbl1x transducin beta like 1 X-linked gene DOID:12849 autistic disorder ISO RGD:1346534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8806870 Tbl1x transducin beta like 1 X-linked gene DOID:630 genetic disease ISO RGD:1346534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806870 Tbl1x transducin beta like 1 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8806893 Cables1 Cdk5 and Abl enzyme substrate 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1313589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 8806893 Cables1 Cdk5 and Abl enzyme substrate 1 gene DOID:1059 intellectual disability ISO RGD:1313589 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8806893 Cables1 Cdk5 and Abl enzyme substrate 1 gene DOID:630 genetic disease ISO RGD:1313589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806893 Cables1 Cdk5 and Abl enzyme substrate 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17982127 8806922 Ube2w ubiquitin conjugating enzyme E2 W gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1605362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 8806943 Fitm2 fat storage inducing transmembrane protein 2 gene DOID:0081273 Siddiqi syndrome ISO RGD:1317034 D RGD:7240710 20191127 OMIM 8806943 Fitm2 fat storage inducing transmembrane protein 2 gene DOID:0081273 Siddiqi syndrome ISO RGD:1317034 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Siddiqi syndrome PMID:25741868|PMID:28067622|PMID:30214770|PMID:30288795 8806943 Fitm2 fat storage inducing transmembrane protein 2 gene DOID:2234 focal epilepsy ISO RGD:1317034 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8806943 Fitm2 fat storage inducing transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1317034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8806943 Fitm2 fat storage inducing transmembrane protein 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1317034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8806967 Impa1 inositol monophosphatase 1 gene DOID:0081221 autosomal recessive intellectual developmental disorder 59 ISO RGD:737559 D RGD:7240710 20190315 OMIM 8806967 Impa1 inositol monophosphatase 1 gene DOID:0081221 autosomal recessive intellectual developmental disorder 59 ISO RGD:737559 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 59 PMID:25741868|PMID:26416544|PMID:32839513 8806967 Impa1 inositol monophosphatase 1 gene DOID:1059 intellectual disability ISO RGD:737559 D RGD:9068941 20210416 RGD DNA:frameshift mutation:CDS:c.489_493dupGGGCT (human) PMID:26416544|REF_RGD_ID:126781710 8806967 Impa1 inositol monophosphatase 1 gene DOID:630 genetic disease ISO RGD:737559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8806967 Impa1 inositol monophosphatase 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737560 D RGD:9068941 20210416 RGD PMID:30604625|REF_RGD_ID:126781711 8806987 Asxl3 ASXL transcriptional regulator 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1344717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8806987 Asxl3 ASXL transcriptional regulator 3 gene DOID:0080893 Bainbridge-Ropers syndrome ISO RGD:1344717 D RGD:7240710 20180130 OMIM 8806987 Asxl3 ASXL transcriptional regulator 3 gene DOID:0080893 Bainbridge-Ropers syndrome ISO RGD:1344717 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Bainbridge-Ropers syndrome PMID:23383720|PMID:25326635|PMID:25590979|PMID:25741868|PMID:26539891|PMID:26640146|PMID:26647312|PMID:27075689|PMID:27901041|PMID:28100473|PMID:28492532|PMID:29305346|PMID:29367179|PMID:29628764|PMID:30564305|PMID:31180560|PMID:31785789|PMID:32581362|PMID:32860008|PMID:33004838 8806987 Asxl3 ASXL transcriptional regulator 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1344717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 8806987 Asxl3 ASXL transcriptional regulator 3 gene DOID:1059 intellectual disability ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:25326635|PMID:25741868|PMID:26647312|PMID:28100473|PMID:31180560 8806987 Asxl3 ASXL transcriptional regulator 3 gene DOID:1826 epilepsy ISO RGD:1344717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8806987 Asxl3 ASXL transcriptional regulator 3 gene DOID:630 genetic disease ISO RGD:1344717 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23383720|PMID:25326635|PMID:25741868|PMID:26647312|PMID:27075689|PMID:28100473|PMID:29628764|PMID:31180560|PMID:31785789 8806987 Asxl3 ASXL transcriptional regulator 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344717 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8806987 Asxl3 ASXL transcriptional regulator 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344717 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:32581362 8806987 Asxl3 ASXL transcriptional regulator 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8806987 Asxl3 ASXL transcriptional regulator 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1344717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 8807017 Slc30a4 solute carrier family 30 member 4 gene DOID:0050712 AGAT deficiency ISO RGD:1343503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8807017 Slc30a4 solute carrier family 30 member 4 gene DOID:0060496 respiratory allergy ISO RGD:1343503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 8807017 Slc30a4 solute carrier family 30 member 4 gene DOID:0080600 COVID-19 ISO RGD:1343503 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8807017 Slc30a4 solute carrier family 30 member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1343503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16580781 8807017 Slc30a4 solute carrier family 30 member 4 gene DOID:2717 Bloom syndrome ISO RGD:1343503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8807017 Slc30a4 solute carrier family 30 member 4 gene DOID:630 genetic disease ISO RGD:1343503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807017 Slc30a4 solute carrier family 30 member 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:1343503 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:12955079|REF_RGD_ID:2299948 8807017 Slc30a4 solute carrier family 30 member 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1343503 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:12955079|REF_RGD_ID:2299948 8807017 Slc30a4 solute carrier family 30 member 4 gene DOID:9004009 Reperfusion Injury ISO RGD:619750 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18289514|REF_RGD_ID:2299950 8807017 Slc30a4 solute carrier family 30 member 4 gene DOID:9256 colorectal cancer ISO RGD:1343503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8807032 Natd1 N-acetyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807045 Tead3 TEA domain transcription factor 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1323117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8807045 Tead3 TEA domain transcription factor 3 gene DOID:0110381 retinitis pigmentosa 14 ISO RGD:1323117 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 PMID:25741868|PMID:26427415|PMID:28492532|PMID:32531858|PMID:9462750 8807045 Tead3 TEA domain transcription factor 3 gene DOID:630 genetic disease ISO RGD:1323117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807045 Tead3 TEA domain transcription factor 3 gene DOID:8501 fundus dystrophy ISO RGD:1323117 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26427415|PMID:28492532|PMID:32531858|PMID:9462750 8807069 Septin14 septin 14 gene DOID:12849 autistic disorder ISO RGD:1602813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8807069 Septin14 septin 14 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1602813 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human) PMID:27115672|REF_RGD_ID:13504669 8807069 Septin14 septin 14 gene DOID:3068 glioblastoma ISO RGD:1602813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 8807069 Septin14 septin 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8807069 Septin14 septin 14 gene DOID:630 genetic disease ISO RGD:1602813 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807082 Ddx50 DExD-box helicase 50 gene DOID:10283 prostate cancer ISO RGD:1322118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8807082 Ddx50 DExD-box helicase 50 gene DOID:630 genetic disease ISO RGD:1322118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807101 Decr2 2,4-dienoyl-CoA reductase 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:735964 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8807101 Decr2 2,4-dienoyl-CoA reductase 2 gene DOID:1826 epilepsy ISO RGD:735964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 8807101 Decr2 2,4-dienoyl-CoA reductase 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:735964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8807101 Decr2 2,4-dienoyl-CoA reductase 2 gene DOID:630 genetic disease ISO RGD:735964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807117 Znf641 zinc finger protein 641 gene DOID:630 genetic disease ISO RGD:1606174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807142 Necap1 NECAP endocytosis associated 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8807142 Necap1 NECAP endocytosis associated 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1603669 D RGD:7240710 20180130 OMIM 8807142 Necap1 NECAP endocytosis associated 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:17576681|PMID:24399846|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30525121|PMID:30626896|PMID:9536098 8807142 Necap1 NECAP endocytosis associated 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8807142 Necap1 NECAP endocytosis associated 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8807142 Necap1 NECAP endocytosis associated 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8807142 Necap1 NECAP endocytosis associated 1 gene DOID:1826 epilepsy ISO RGD:1603669 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8807142 Necap1 NECAP endocytosis associated 1 gene DOID:630 genetic disease ISO RGD:1603669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8807142 Necap1 NECAP endocytosis associated 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8807164 Gsdmd gasdermin D gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1316349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8807164 Gsdmd gasdermin D gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1316349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8807164 Gsdmd gasdermin D gene DOID:4621 holoprosencephaly ISO RGD:1316349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8807164 Gsdmd gasdermin D gene DOID:630 genetic disease ISO RGD:1316349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807181 Rassf1 Ras association domain family member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24146755 8807181 Rassf1 Ras association domain family member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8807181 Rassf1 Ras association domain family member 1 gene DOID:0050902 medulloblastoma ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21880625 8807181 Rassf1 Ras association domain family member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8807181 Rassf1 Ras association domain family member 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17960617|REF_RGD_ID:2299865 8807181 Rassf1 Ras association domain family member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15987713 8807181 Rassf1 Ras association domain family member 1 gene DOID:11054 urinary bladder cancer ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:18702824|REF_RGD_ID:2299860 8807181 Rassf1 Ras association domain family member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19652091 8807181 Rassf1 Ras association domain family member 1 gene DOID:1395 schistosomiasis ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 8807181 Rassf1 Ras association domain family member 1 gene DOID:1612 breast cancer ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast PMID:18425370|REF_RGD_ID:2299869 8807181 Rassf1 Ras association domain family member 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:18483325|REF_RGD_ID:2299868 8807181 Rassf1 Ras association domain family member 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16545186|REF_RGD_ID:2299867 8807181 Rassf1 Ras association domain family member 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, urinary bladder PMID:18480993|REF_RGD_ID:2299862 8807181 Rassf1 Ras association domain family member 1 gene DOID:2871 endometrial carcinoma ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, PMID:18469797|REF_RGD_ID:2299863 8807181 Rassf1 Ras association domain family member 1 gene DOID:299 adenocarcinoma ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 8807181 Rassf1 Ras association domain family member 1 gene DOID:365 bladder disease ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 8807181 Rassf1 Ras association domain family member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 8807181 Rassf1 Ras association domain family member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343966 D RGD:9068941 20220708 RGD DNA:hypermethylation PMID:27777637|REF_RGD_ID:152998954 8807181 Rassf1 Ras association domain family member 1 gene DOID:4362 cervical cancer ISO RGD:1343966 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;DNA:hypermethylation:promoter PMID:18608185|REF_RGD_ID:2299861 8807181 Rassf1 Ras association domain family member 1 gene DOID:4450 renal cell carcinoma ISO RGD:1343966 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17645803|REF_RGD_ID:2299866 8807181 Rassf1 Ras association domain family member 1 gene DOID:630 genetic disease ISO RGD:1343966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807181 Rassf1 Ras association domain family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008439 8807181 Rassf1 Ras association domain family member 1 gene DOID:9003566 Mesothelioma ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12082623|PMID:15639718 8807181 Rassf1 Ras association domain family member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 8807181 Rassf1 Ras association domain family member 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1343966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26410583 8807181 Rassf1 Ras association domain family member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343966 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8807199 Spata6 spermatogenesis associated 6 gene DOID:630 genetic disease ISO RGD:732866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807218 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8807218 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1346398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8807218 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:224 transient cerebral ischemia ISO RGD:621242 D RGD:9068941 20200609 RGD PMID:16630594|REF_RGD_ID:9681747 8807218 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:630 genetic disease ISO RGD:1346398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807218 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1346398 D RGD:9068941 20200609 RGD mRNA:increased expression:synovium PMID:11801682|REF_RGD_ID:10043106 8807218 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:8398 osteoarthritis treatment ISO RGD:1550099 D RGD:9068941 20200609 RGD associated with Bone Diseases, Metabolic PMID:22432033|REF_RGD_ID:10043110 8807218 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:90 degenerative disc disease ISO RGD:621242 D RGD:9068941 20200609 RGD PMID:22394620|REF_RGD_ID:10043115 8807218 Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8807231 Epm2aip1 EPM2A interacting protein 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:1322182 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:28492532 8807231 Epm2aip1 EPM2A interacting protein 1 gene DOID:3883 Lynch syndrome ISO RGD:1322182 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:14635101|PMID:15713769|PMID:15942939|PMID:15949572|PMID:16143124|PMID:16736289|PMID:16807412|PMID:16941473|PMID:19173287|PMID:19324997|PMID:19459153|PMID:21712435|PMID:23733757|PMID:24362816|PMID:28492532|PMID:29472279|PMID:31491536|PMID:33309985 8807231 Epm2aip1 EPM2A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1322182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807231 Epm2aip1 EPM2A interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322182 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 8807231 Epm2aip1 EPM2A interacting protein 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1322182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8807236 Catspere catsper channel auxiliary subunit epsilon gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604494 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8807236 Catspere catsper channel auxiliary subunit epsilon gene DOID:1540 parathyroid carcinoma ISO RGD:1604494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8807236 Catspere catsper channel auxiliary subunit epsilon gene DOID:630 genetic disease ISO RGD:1604494 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807236 Catspere catsper channel auxiliary subunit epsilon gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1604494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 8807236 Catspere catsper channel auxiliary subunit epsilon gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8807278 Htatip2 HIV-1 Tat interactive protein 2 gene DOID:1059 intellectual disability ISO RGD:1320556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8807278 Htatip2 HIV-1 Tat interactive protein 2 gene DOID:630 genetic disease ISO RGD:1320556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807278 Htatip2 HIV-1 Tat interactive protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1320556 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16799960 8807295 Fut2 fucosyltransferase 2 (H blood group) gene DOID:0050731 vitamin B12 deficiency ISO RGD:735387 D RGD:7240710 20181003 OMIM 8807295 Fut2 fucosyltransferase 2 (H blood group) gene DOID:0080600 COVID-19 ISO RGD:735387 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 8807295 Fut2 fucosyltransferase 2 (H blood group) gene DOID:10754 otitis media ISO RGD:735387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Otitis Media PMID:12692541|PMID:18776911|PMID:25741868|PMID:30401457|PMID:7876234|PMID:7876235|PMID:8755920|PMID:8928486 8807295 Fut2 fucosyltransferase 2 (H blood group) gene DOID:630 genetic disease ISO RGD:735387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807295 Fut2 fucosyltransferase 2 (H blood group) gene DOID:8778 Crohn's disease ISO RGD:735387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 8807295 Fut2 fucosyltransferase 2 (H blood group) gene DOID:9000024 Norwalk Virus Infections ISO RGD:735387 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SECRETOR/NONSECRETOR POLYMORPHISM PMID:12692541|PMID:18776911|PMID:25741868|PMID:30401457|PMID:7876234|PMID:7876235 8807295 Fut2 fucosyltransferase 2 (H blood group) gene DOID:9003153 FUCOSYLTRANSFERASE 6 DEFICIENCY ISO RGD:735387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fucosyltransferase 6 deficiency PMID:25741868|PMID:30401457 8807295 Fut2 fucosyltransferase 2 (H blood group) gene DOID:9006923 Caliciviridae Infections ISO RGD:735387 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12692541 8807301 Gsdma gasdermin A gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1347779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8807301 Gsdma gasdermin A gene DOID:630 genetic disease ISO RGD:1347779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:0001816 angiosarcoma ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737202 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:737202 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast PMID:15841074|REF_RGD_ID:2289965 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:0060224 atrial fibrillation ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:20631454|REF_RGD_ID:8551825 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:11220380|REF_RGD_ID:8551824 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:11220380|REF_RGD_ID:8551824 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:0080600 COVID-19 ISO RGD:737202 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:10591 pre-eclampsia ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679377|PMID:28628106 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:10591 pre-eclampsia ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:15472115|REF_RGD_ID:1582493 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:10591 pre-eclampsia ISO RGD:737202 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:placenta PMID:22262697|REF_RGD_ID:243048428 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:22868384|REF_RGD_ID:10402118 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:737202 D RGD:9068941 20200609 RGD DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human) PMID:24812550|REF_RGD_ID:10402108 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:20609706|REF_RGD_ID:10402116 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:11212 hydrophthalmos ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:22426483|REF_RGD_ID:8549773 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:11382 corneal neovascularization treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:19647313|REF_RGD_ID:10402147 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:22003089|REF_RGD_ID:10402122 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:13025 retinopathy of prematurity ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:21731737|REF_RGD_ID:5684426 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:13025 retinopathy of prematurity treatment ISO RGD:2621 D RGD:9068941 20221117 RGD PMID:30652694|REF_RGD_ID:155663485 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:22868384|REF_RGD_ID:10402118 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:13208 background diabetic retinopathy ISO RGD:737202 D RGD:9068941 20200609 RGD protein:decreased expression:aqueous humor: PMID:23853629|REF_RGD_ID:10402120 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:737202 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:13378 Kawasaki disease ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:11839635|REF_RGD_ID:1582494 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:1520 colon carcinoma ISO RGD:737202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:1612 breast cancer ISO RGD:2621 D RGD:9068941 20200609 RGD protein:increased expression:mammary carcinoma cells PMID:10604730|REF_RGD_ID:2289937 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737202 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:1909 melanoma ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:1909 melanoma ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21730877|REF_RGD_ID:8552360 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:1967 leiomyosarcoma severity ISO RGD:737202 D RGD:9068941 20200609 RGD Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008) PMID:15823121|REF_RGD_ID:2289964 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:2154 nephroblastoma severity ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:blastemal cells:expression associated with poor prognosis in chemotherapy treated patients PMID:12560388|REF_RGD_ID:2289966 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:17077813|REF_RGD_ID:10402150 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:2256 osteochondrodysplasia ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17954590 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:2696 Leydig cell tumor ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:14517422|REF_RGD_ID:2301251 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA:protein:skin: PMID:7876550|REF_RGD_ID:7421586 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15681497|REF_RGD_ID:5684420 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:326 ischemia ISO RGD:734184 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:17823371|REF_RGD_ID:2313719 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737202 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:737202 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:4448 macular degeneration ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:21731737|REF_RGD_ID:5684426 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:4449 macular retinal edema ISO RGD:737202 D RGD:9068941 20200609 RGD associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: PMID:24894397|REF_RGD_ID:10402117 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16596207 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:expression significantly higher in tumors than corresponding normal tissue (p=0.01), significantly correlated with VEGF expression PMID:11846206|REF_RGD_ID:2289960 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:kidney, blood, myeloid cell PMID:18566400|REF_RGD_ID:2301250 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:4676 uremia ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:5082 liver cirrhosis ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:increased expressin:liver: PMID:11981751|REF_RGD_ID:634296 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:5082 liver cirrhosis ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11981751 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:5844 myocardial infarction ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:16714360|REF_RGD_ID:1601493 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:737202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:8398 osteoarthritis ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA:increased expression:trabecular bone: PMID:15781004|REF_RGD_ID:10402109 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:737202 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:10893635|REF_RGD_ID:2301255 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:8725 vascular dementia treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:22500404|REF_RGD_ID:10402076 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:8893 psoriasis disease_progression ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20980160|REF_RGD_ID:8552359 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:8947 diabetic retinopathy ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:17143550|REF_RGD_ID:2313721 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:18174522|REF_RGD_ID:10402119 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, astrocyte, macrophage PMID:17409380|REF_RGD_ID:5684414 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9000528 Coronary Disease ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:16139132|REF_RGD_ID:2313728 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9000918 Disease Progression ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21975929 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:23804076|REF_RGD_ID:10402115 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:23977149|REF_RGD_ID:10402113 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:10849558|REF_RGD_ID:10402112 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737202 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine PMID:15610240|REF_RGD_ID:2313731 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002265 Kidney Neoplasms severity ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression, alternative form:serum:increased expression of soluble domain in serum associated with poor survival (p=0.01) PMID:11448916|REF_RGD_ID:2289948 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:methylated in 24/63 (38.1%) of cancer samples but 0/13 (0%) of benign prostate samples PMID:12824880|REF_RGD_ID:2289963 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:prostate:expression in 15/15 (100%) of tumors examined, levels increased in neoplastic tissue relative to adjacent benign tissue PMID:10475375|REF_RGD_ID:2289936 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:19180491|REF_RGD_ID:6483591 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002514 Neointima ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:smooth muscle cell: PMID:9400373|REF_RGD_ID:10402128 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002514 Neointima treatment ISO RGD:2621 D RGD:9068941 20200609 RGD PMID:22814749|REF_RGD_ID:10402146 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:17888890|REF_RGD_ID:10402152 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17888890 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:734184 D RGD:9068941 20200609 RGD PMID:11929819|REF_RGD_ID:2301253 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:11448924|REF_RGD_ID:2301254 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:ovarian epithelial carcinoma PMID:15350351|REF_RGD_ID:2289945 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:18721816|REF_RGD_ID:10402153 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9002801 Recurrence ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280|PMID:26124351 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:17306351|REF_RGD_ID:2289084 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD Uterine sarcomas; protein:altered expression:tumor:increased expression of total FLT1 but decreased expression of phospho-FLT1 PMID:15823121|REF_RGD_ID:2289964 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:737202 D RGD:9068941 20200609 RGD PMID:23041435|REF_RGD_ID:10402106 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:737202 D RGD:9068941 20200609 RGD Pneumonia associated sepsis PMID:21219633|REF_RGD_ID:4891938 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:2621 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:21528367|REF_RGD_ID:5684427 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:16741021|REF_RGD_ID:2313724 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734184 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21135413 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10831352|REF_RGD_ID:2301256 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:737202 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:12485477|REF_RGD_ID:2301252 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:2621 D RGD:9068941 20200609 RGD mRNA:increased expression:mucosa of the middle ear; PMID:12875575|REF_RGD_ID:8547977 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280|PMID:26124351 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737202 D RGD:9068941 20200609 RGD protein:increased expression, alternative form:tumor:increased expression of soluble form, significantly correlated with VEGF expression PMID:11857378|REF_RGD_ID:2289961 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9008939 Breast Neoplasms severity ISO RGD:737202 D RGD:9068941 20200609 RGD protein:altered expression:tumor:positive expression improves survival rate after neoadjuvant chemotherapy, negative expression associated with poor prognosis PMID:12910290|REF_RGD_ID:2289962 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:737202 D RGD:9068941 20210514 RGD PMID:16480593|REF_RGD_ID:126925191 8807323 Flt1 fms related receptor tyrosine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734184 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:skeletal muscle PMID:17823371|REF_RGD_ID:2313719 8807361 Enpp6 ectonucleotide pyrophosphatase/phosphodiesterase 6 gene DOID:630 genetic disease ISO RGD:1323210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807373 Crlf1 cytokine receptor like factor 1 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1322794 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome PMID:20186812|PMID:25741868 8807373 Crlf1 cytokine receptor like factor 1 gene DOID:0080329 cold-induced sweating syndrome 1 ISO RGD:1322794 D RGD:7240710 20180307 OMIM 8807373 Crlf1 cytokine receptor like factor 1 gene DOID:0080329 cold-induced sweating syndrome 1 ISO RGD:1322794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 PMID:12509788|PMID:17436251|PMID:17436252|PMID:19012339|PMID:20186812|PMID:20400119|PMID:21326283|PMID:21370513|PMID:24008591|PMID:24488861|PMID:25326637|PMID:25741868|PMID:26752647|PMID:27976805|PMID:28492532|PMID:31497877|PMID:35699517|PMID:8723066 8807373 Crlf1 cytokine receptor like factor 1 gene DOID:0111019 cone-rod dystrophy 12 ISO RGD:1322794 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 12 PMID:25741868|PMID:31497877 8807373 Crlf1 cytokine receptor like factor 1 gene DOID:630 genetic disease ISO RGD:1322794 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8807373 Crlf1 cytokine receptor like factor 1 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1322794 D RGD:9068941 20200609 RGD Cold-induced sweating syndrome-1, OMIM:272430 PMID:12509788|REF_RGD_ID:1600970 8807373 Crlf1 cytokine receptor like factor 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8807391 Cmc1 C-X9-C motif containing 1 gene DOID:630 genetic disease ISO RGD:1606956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807400 Ibtk inhibitor of Bruton tyrosine kinase gene DOID:10283 prostate cancer ISO RGD:1323289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8807400 Ibtk inhibitor of Bruton tyrosine kinase gene DOID:630 genetic disease ISO RGD:1323289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807450 Dhx36 DEAH-box helicase 36 gene DOID:630 genetic disease ISO RGD:1318732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807489 Mrgprg MAS related GPR family member G gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8807489 Mrgprg MAS related GPR family member G gene DOID:0080773 delta beta-thalassemia ISO RGD:1351155 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8807489 Mrgprg MAS related GPR family member G gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8807489 Mrgprg MAS related GPR family member G gene DOID:630 genetic disease ISO RGD:1351155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807495 Ogfod1 2-oxoglutarate and iron dependent oxygenase domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8807495 Ogfod1 2-oxoglutarate and iron dependent oxygenase domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8807495 Ogfod1 2-oxoglutarate and iron dependent oxygenase domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8807495 Ogfod1 2-oxoglutarate and iron dependent oxygenase domain containing 1 gene DOID:630 genetic disease ISO RGD:1605373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807522 Furin furin, paired basic amino acid cleaving enzyme gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1323167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8807522 Furin furin, paired basic amino acid cleaving enzyme gene DOID:2349 arteriosclerosis ISO RGD:1323167 D RGD:9068941 20200609 RGD PMID:15756593|REF_RGD_ID:1582622 8807522 Furin furin, paired basic amino acid cleaving enzyme gene DOID:2717 Bloom syndrome ISO RGD:1323167 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8807522 Furin furin, paired basic amino acid cleaving enzyme gene DOID:305 carcinoma ISO RGD:1323167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8807522 Furin furin, paired basic amino acid cleaving enzyme gene DOID:3393 coronary artery disease ISO RGD:1323167 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8807522 Furin furin, paired basic amino acid cleaving enzyme gene DOID:630 genetic disease ISO RGD:1323167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807522 Furin furin, paired basic amino acid cleaving enzyme gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1323167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8807522 Furin furin, paired basic amino acid cleaving enzyme gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1323167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8807522 Furin furin, paired basic amino acid cleaving enzyme gene DOID:9005643 Experimental Diabetes Mellitus disease_progression ISO RGD:3274 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16541018|REF_RGD_ID:1582625 8807547 Bdnf brain derived neurotrophic factor gene DOID:0050741 alcohol dependence treatment ISO RGD:2202 D RGD:9068941 20240127 RGD PMID:32579730|PMID:34453945|REF_RGD_ID:401959604|REF_RGD_ID:401959610 8807547 Bdnf brain derived neurotrophic factor gene DOID:0050742 nicotine dependence ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418890 8807547 Bdnf brain derived neurotrophic factor gene DOID:0050848 obstructive sleep apnea ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16061712|REF_RGD_ID:4891119 8807547 Bdnf brain derived neurotrophic factor gene DOID:0060001 withdrawal disorder ISO RGD:2202 D RGD:9068941 20240111 RGD associated with morphine dependence;mRNA:alternative form:frontal cortex, midbrain PMID:25392083|REF_RGD_ID:401950484 8807547 Bdnf brain derived neurotrophic factor gene DOID:0060001 withdrawal disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12574402 8807547 Bdnf brain derived neurotrophic factor gene DOID:0060001 withdrawal disorder treatment ISO RGD:10235 D RGD:9068941 20231230 RGD associated with nicotine dependence PMID:24682499|REF_RGD_ID:401940143 8807547 Bdnf brain derived neurotrophic factor gene DOID:0060041 autism spectrum disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 8807547 Bdnf brain derived neurotrophic factor gene DOID:0060041 autism spectrum disorder ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:21984201|REF_RGD_ID:12801412 8807547 Bdnf brain derived neurotrophic factor gene DOID:0060180 colitis ISO RGD:10235 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:19932037|REF_RGD_ID:8657331 8807547 Bdnf brain derived neurotrophic factor gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:731027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:11840487|PMID:25741868|PMID:28492532 8807547 Bdnf brain derived neurotrophic factor gene DOID:0080855 Parkinsonism treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16018990|REF_RGD_ID:8657066 8807547 Bdnf brain derived neurotrophic factor gene DOID:10003 sensorineural hearing loss ISO RGD:10235 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:inferior colliculus: PMID:20598895|REF_RGD_ID:8655560 8807547 Bdnf brain derived neurotrophic factor gene DOID:10126 keratoconus ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea: PMID:23489213|REF_RGD_ID:8655632 8807547 Bdnf brain derived neurotrophic factor gene DOID:1059 intellectual disability ISO RGD:731027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8807547 Bdnf brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20646587|REF_RGD_ID:4891131 8807547 Bdnf brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17344400 8807547 Bdnf brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human) PMID:23215636|REF_RGD_ID:10059345 8807547 Bdnf brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:parietal cortex PMID:12654514|REF_RGD_ID:10058980 8807547 Bdnf brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V66M (human) PMID:16627933|REF_RGD_ID:10059343 8807547 Bdnf brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) PMID:16565926|REF_RGD_ID:10059346 8807547 Bdnf brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease onset ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1048218 (human) PMID:18780967|REF_RGD_ID:5508228 8807547 Bdnf brain derived neurotrophic factor gene DOID:10652 Alzheimer's disease treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24877042|REF_RGD_ID:10059402 8807547 Bdnf brain derived neurotrophic factor gene DOID:1070 primary open angle glaucoma ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:21076359|REF_RGD_ID:8655612 8807547 Bdnf brain derived neurotrophic factor gene DOID:10914 amnestic disorder ISO RGD:2202 D RGD:9068941 20240201 RGD protein:decreased expression:amygdala, hippocampus, prefrontal cortex PMID:31400468|REF_RGD_ID:401960871 8807547 Bdnf brain derived neurotrophic factor gene DOID:10914 amnestic disorder treatment ISO RGD:10235 D RGD:9068941 20240201 RGD PMID:25061594|PMID:28716085|REF_RGD_ID:10059361|REF_RGD_ID:401960865 8807547 Bdnf brain derived neurotrophic factor gene DOID:10933 obsessive-compulsive disorder ISO RGD:2202 D RGD:9068941 20240127 RGD associated with morphine withdrawal disorder;mRNA:decreased expression:nucleus accumbens PMID:31693870|REF_RGD_ID:401959588 8807547 Bdnf brain derived neurotrophic factor gene DOID:10933 obsessive-compulsive disorder ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:12836135|REF_RGD_ID:734644 8807547 Bdnf brain derived neurotrophic factor gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:25061595|REF_RGD_ID:10059388 8807547 Bdnf brain derived neurotrophic factor gene DOID:11446 sciatic neuropathy ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:22309829|REF_RGD_ID:8657100 8807547 Bdnf brain derived neurotrophic factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24388817|REF_RGD_ID:10059363 8807547 Bdnf brain derived neurotrophic factor gene DOID:11981 morbid obesity ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21708048 8807547 Bdnf brain derived neurotrophic factor gene DOID:12689 acoustic neuroma ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral nerve: PMID:19937367|REF_RGD_ID:8655552 8807547 Bdnf brain derived neurotrophic factor gene DOID:12849 autistic disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17349978|PMID:20662941 8807547 Bdnf brain derived neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:19499586|REF_RGD_ID:10059353 8807547 Bdnf brain derived neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex PMID:18093249|REF_RGD_ID:10058981 8807547 Bdnf brain derived neurotrophic factor gene DOID:12858 Huntington's disease treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:17885687|REF_RGD_ID:10415531 8807547 Bdnf brain derived neurotrophic factor gene DOID:12894 Sjogren's syndrome severity ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18830907|REF_RGD_ID:8657019 8807547 Bdnf brain derived neurotrophic factor gene DOID:13399 color blindness susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) PMID:21640793|REF_RGD_ID:8655850 8807547 Bdnf brain derived neurotrophic factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16315781|REF_RGD_ID:4891110 8807547 Bdnf brain derived neurotrophic factor gene DOID:13544 low tension glaucoma ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:tear: PMID:19861219|REF_RGD_ID:8655604 8807547 Bdnf brain derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8807547 Bdnf brain derived neurotrophic factor gene DOID:14330 Parkinson's disease ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra pars compacta: PMID:10208589|REF_RGD_ID:8657025 8807547 Bdnf brain derived neurotrophic factor gene DOID:14330 Parkinson's disease no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human) PMID:16565926|REF_RGD_ID:10059346 8807547 Bdnf brain derived neurotrophic factor gene DOID:1459 hypothyroidism ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20600205|REF_RGD_ID:4891132 8807547 Bdnf brain derived neurotrophic factor gene DOID:1470 major depressive disorder ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:21803060|REF_RGD_ID:8655887 8807547 Bdnf brain derived neurotrophic factor gene DOID:1555 urticaria ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:serum,skin: PMID:21676041|REF_RGD_ID:8657027 8807547 Bdnf brain derived neurotrophic factor gene DOID:1561 cognitive disorder ISO RGD:731027 D RGD:9068941 20200609 RGD associated with WAGR Syndrome;DNA:haploinsufficiency: : PMID:23517654|REF_RGD_ID:8655893 8807547 Bdnf brain derived neurotrophic factor gene DOID:1574 alcohol use disorder ISO RGD:10235 D RGD:9068941 20240229 RGD protein:decreased expression:cerebellum, hippocampus PMID:19100286|REF_RGD_ID:401976492 8807547 Bdnf brain derived neurotrophic factor gene DOID:1574 alcohol use disorder ISO RGD:2202 D RGD:9068941 20200716 RGD protein:decreased expression:plasma PMID:32135570|REF_RGD_ID:35673317 8807547 Bdnf brain derived neurotrophic factor gene DOID:1574 alcohol use disorder ISO RGD:2202 D RGD:9068941 20231221 RGD mRNA,protein:decreased expression:hippocampus, plasma (rat) PMID:30277635|REF_RGD_ID:401938665 8807547 Bdnf brain derived neurotrophic factor gene DOID:1574 alcohol use disorder ISO RGD:2202 D RGD:9068941 20240111 RGD mRNA:decreased expression:hippocampus PMID:32497709|REF_RGD_ID:401950485 8807547 Bdnf brain derived neurotrophic factor gene DOID:1574 alcohol use disorder ISO RGD:2202 D RGD:9068941 20240215 RGD protein:altered expression:brain PMID:15307153|REF_RGD_ID:401965482 8807547 Bdnf brain derived neurotrophic factor gene DOID:1574 alcohol use disorder ISO RGD:731027 D RGD:9068941 20231221 RGD protein:decreased expression:plasma (human) PMID:30277635|REF_RGD_ID:401938665 8807547 Bdnf brain derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:22097208|REF_RGD_ID:5684923 8807547 Bdnf brain derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:2202 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:20920483|REF_RGD_ID:4891127 8807547 Bdnf brain derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16330021|PMID:21945287 8807547 Bdnf brain derived neurotrophic factor gene DOID:1596 depressive disorder ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lymphocyte, platelet PMID:20227453|REF_RGD_ID:4891139 8807547 Bdnf brain derived neurotrophic factor gene DOID:1596 depressive disorder treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24128869|REF_RGD_ID:10059357 8807547 Bdnf brain derived neurotrophic factor gene DOID:1679 cystitis ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20079809|PMID:9631447|REF_RGD_ID:5684910|REF_RGD_ID:8657090 8807547 Bdnf brain derived neurotrophic factor gene DOID:1686 glaucoma ISO RGD:2202 D RGD:9068941 20200609 RGD protein:decreased expression:eye: PMID:10711692|REF_RGD_ID:8655608 8807547 Bdnf brain derived neurotrophic factor gene DOID:1686 glaucoma treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:21498611|REF_RGD_ID:8655886 8807547 Bdnf brain derived neurotrophic factor gene DOID:1686 glaucoma treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:19422885|REF_RGD_ID:8655601 8807547 Bdnf brain derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:19366663|PMID:19686240|REF_RGD_ID:4891125|REF_RGD_ID:5684912 8807547 Bdnf brain derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431|PMID:8821376 8807547 Bdnf brain derived neurotrophic factor gene DOID:1824 status epilepticus ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:19686240|REF_RGD_ID:5684912 8807547 Bdnf brain derived neurotrophic factor gene DOID:1826 epilepsy ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15282290 8807547 Bdnf brain derived neurotrophic factor gene DOID:2030 anxiety disorder ameliorates ISO RGD:2202 D RGD:9068941 20231221 RGD associated with alcohol dependence PMID:24103311|REF_RGD_ID:401938663 8807547 Bdnf brain derived neurotrophic factor gene DOID:2030 anxiety disorder ameliorates ISO RGD:2202 D RGD:9068941 20231221 RGD associated with alcohol use disorder PMID:18322102|PMID:25814047|REF_RGD_ID:401938616|REF_RGD_ID:401938652 8807547 Bdnf brain derived neurotrophic factor gene DOID:2030 anxiety disorder treatment ISO RGD:2202 D RGD:9068941 20220210 RGD PMID:25283985|REF_RGD_ID:151356735 8807547 Bdnf brain derived neurotrophic factor gene DOID:2055 post-traumatic stress disorder susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:196G>A (p.V66M) (human) PMID:23319005|REF_RGD_ID:10059367 8807547 Bdnf brain derived neurotrophic factor gene DOID:2055 post-traumatic stress disorder treatment ISO RGD:2202 D RGD:9068941 20240104 RGD PMID:28791385|REF_RGD_ID:401940159 8807547 Bdnf brain derived neurotrophic factor gene DOID:2316 brain ischemia ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19922383 8807547 Bdnf brain derived neurotrophic factor gene DOID:2377 multiple sclerosis onset ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20656764|REF_RGD_ID:5684915 8807547 Bdnf brain derived neurotrophic factor gene DOID:2468 psychotic disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8807547 Bdnf brain derived neurotrophic factor gene DOID:2560 morphine dependence ISO RGD:2202 D RGD:9068941 20240125 RGD protein:decreased expression:nucleus accumbens PMID:32428531|REF_RGD_ID:401959372 8807547 Bdnf brain derived neurotrophic factor gene DOID:2560 morphine dependence treatment ISO RGD:10235 D RGD:9068941 20231230 RGD PMID:27461790|REF_RGD_ID:401940145 8807547 Bdnf brain derived neurotrophic factor gene DOID:2841 asthma ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:11737043|REF_RGD_ID:4891123 8807547 Bdnf brain derived neurotrophic factor gene DOID:2841 asthma ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V66M, -270C>T (human) PMID:17584309|REF_RGD_ID:4891067 8807547 Bdnf brain derived neurotrophic factor gene DOID:2841 asthma ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:blood, eosinophil PMID:12752594|REF_RGD_ID:4891122 8807547 Bdnf brain derived neurotrophic factor gene DOID:2841 asthma severity ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.V66M (rs6265) (human) PMID:19895626|REF_RGD_ID:4891117 8807547 Bdnf brain derived neurotrophic factor gene DOID:2841 asthma severity ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20874832|REF_RGD_ID:4891063 8807547 Bdnf brain derived neurotrophic factor gene DOID:2841 asthma susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) PMID:21723144|REF_RGD_ID:8655967 8807547 Bdnf brain derived neurotrophic factor gene DOID:2952 inner ear disease IEP D RGD:11556223|PMID:10536212 20161028 RGD 8807547 Bdnf brain derived neurotrophic factor gene DOID:3082 interstitial lung disease ISO RGD:731027 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;protein:decreased expression:serum: PMID:24691584|REF_RGD_ID:8657022 8807547 Bdnf brain derived neurotrophic factor gene DOID:3310 atopic dermatitis ISO RGD:731027 D RGD:9068941 20200609 RGD mRNA:decreased expression:mast cell PMID:17845420|REF_RGD_ID:8657065 8807547 Bdnf brain derived neurotrophic factor gene DOID:3310 atopic dermatitis ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17073871|REF_RGD_ID:8657069 8807547 Bdnf brain derived neurotrophic factor gene DOID:3310 atopic dermatitis no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V66M(human) PMID:19038326|REF_RGD_ID:8657067 8807547 Bdnf brain derived neurotrophic factor gene DOID:3310 atopic dermatitis susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphism::C270T(human) PMID:19522715|REF_RGD_ID:8657028 8807547 Bdnf brain derived neurotrophic factor gene DOID:3312 bipolar disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030|PMID:19018715 8807547 Bdnf brain derived neurotrophic factor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2202 D RGD:9068941 20240201 RGD PMID:20417695|PMID:35218623|REF_RGD_ID:401960864|REF_RGD_ID:4891138 8807547 Bdnf brain derived neurotrophic factor gene DOID:3770 pulmonary fibrosis ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:12917229|REF_RGD_ID:4891121 8807547 Bdnf brain derived neurotrophic factor gene DOID:418 systemic scleroderma ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:21085492|REF_RGD_ID:5144060 8807547 Bdnf brain derived neurotrophic factor gene DOID:4483 rhinitis ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:20464992|REF_RGD_ID:4891116 8807547 Bdnf brain derived neurotrophic factor gene DOID:4483 rhinitis susceptibility ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) PMID:21723144|REF_RGD_ID:8655967 8807547 Bdnf brain derived neurotrophic factor gene DOID:5154 borna disease ISO RGD:2202 D RGD:9068941 20240222 RGD mRNA:decreased expression:hippocampus PMID:11175319|REF_RGD_ID:2325644 8807547 Bdnf brain derived neurotrophic factor gene DOID:5419 schizophrenia ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12951204|PMID:14708030|PMID:17442489|PMID:18408624 8807547 Bdnf brain derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:731027 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24048383|PMID:25741868|PMID:27699937 8807547 Bdnf brain derived neurotrophic factor gene DOID:670 amphetamine abuse ISO RGD:2202 D RGD:9068941 20240222 RGD protein:decreased expression:hippocampus PMID:24407463|REF_RGD_ID:401976437 8807547 Bdnf brain derived neurotrophic factor gene DOID:670 amphetamine abuse ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20736000 8807547 Bdnf brain derived neurotrophic factor gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 8807547 Bdnf brain derived neurotrophic factor gene DOID:8466 retinal degeneration ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:12764104|PMID:17525224|REF_RGD_ID:8655627|REF_RGD_ID:8655860 8807547 Bdnf brain derived neurotrophic factor gene DOID:8466 retinal degeneration treatment ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:16123443|REF_RGD_ID:8655588 8807547 Bdnf brain derived neurotrophic factor gene DOID:8466 retinal degeneration treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:12454046|REF_RGD_ID:8655652 8807547 Bdnf brain derived neurotrophic factor gene DOID:863 nervous system disease ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22240983 8807547 Bdnf brain derived neurotrophic factor gene DOID:8725 vascular dementia treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24622829|REF_RGD_ID:10059369 8807547 Bdnf brain derived neurotrophic factor gene DOID:8805 intermediate coronary syndrome ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16186425|REF_RGD_ID:4891111 8807547 Bdnf brain derived neurotrophic factor gene DOID:8947 diabetic retinopathy ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina: PMID:15331553|REF_RGD_ID:8655657 8807547 Bdnf brain derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:19203225|REF_RGD_ID:4891066 8807547 Bdnf brain derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:16022868|REF_RGD_ID:4891112 8807547 Bdnf brain derived neurotrophic factor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24551172|REF_RGD_ID:10059354 8807547 Bdnf brain derived neurotrophic factor gene DOID:9000111 Radiation Injuries treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24333433|REF_RGD_ID:10059359 8807547 Bdnf brain derived neurotrophic factor gene DOID:9000217 Stomach Neoplasms ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8807547 Bdnf brain derived neurotrophic factor gene DOID:9000307 Presbycusis ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:decreased expression:cochlea PMID:17168119|REF_RGD_ID:8655551 8807547 Bdnf brain derived neurotrophic factor gene DOID:9000499 Alcoholic Intoxication ISO RGD:10235 D RGD:9068941 20240203 RGD mRNA,protein:decreased expression:cerebellum PMID:19861148|REF_RGD_ID:401965398 8807547 Bdnf brain derived neurotrophic factor gene DOID:9000641 Pain ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20452292|REF_RGD_ID:4891137 8807547 Bdnf brain derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:20544832|REF_RGD_ID:4891136 8807547 Bdnf brain derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20544832|REF_RGD_ID:4891136 8807547 Bdnf brain derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15500971|PMID:21269288 8807547 Bdnf brain derived neurotrophic factor gene DOID:9000998 Brain Injuries ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:20544832|REF_RGD_ID:4891136 8807547 Bdnf brain derived neurotrophic factor gene DOID:9001131 stress-related disorder ISO RGD:2202 D RGD:9068941 20240111 RGD protein:decreased expression:serum PMID:32497709|REF_RGD_ID:401950485 8807547 Bdnf brain derived neurotrophic factor gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:2202 D RGD:9068941 20240210 RGD mRNA:altered expression:hippocampus|hypothalamus (rat) PMID:26180184|REF_RGD_ID:11074449 8807547 Bdnf brain derived neurotrophic factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:10235 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal dorsal horn: PMID:23466809|REF_RGD_ID:8657102 8807547 Bdnf brain derived neurotrophic factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:fourth lumbar dorsal root ganglion: PMID:11425916|REF_RGD_ID:8657088 8807547 Bdnf brain derived neurotrophic factor gene DOID:9001310 Tobacco Use Disorder ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17186223 8807547 Bdnf brain derived neurotrophic factor gene DOID:9001472 Nasal Polyps ISO RGD:731027 D RGD:9068941 20200609 RGD associated with Sinusitis;protein:decreased expression:respiratory system mucosa PMID:19958603|REF_RGD_ID:4891064 8807547 Bdnf brain derived neurotrophic factor gene DOID:9001725 Retina Reperfusion Injury ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:10549664|REF_RGD_ID:8655861 8807547 Bdnf brain derived neurotrophic factor gene DOID:9001733 Tinnitus ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea: PMID:18524887|REF_RGD_ID:8655535 8807547 Bdnf brain derived neurotrophic factor gene DOID:9001733 Tinnitus severity ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:22281446|REF_RGD_ID:8655556 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human) PMID:22596272|REF_RGD_ID:10059351 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002031 Frontotemporal Lobar Degeneration no_association ISO RGD:731027 D RGD:9068941 20200609 RGD DNA:SNP: :rs2049045 (human) PMID:22596272|REF_RGD_ID:10059351 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24361987|REF_RGD_ID:10059358 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:20557422|REF_RGD_ID:4891134 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:10235 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:12435470|REF_RGD_ID:8657101 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:10235 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:12470870|REF_RGD_ID:8657091 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Pancreatitis, Chronic; PMID:21499209|REF_RGD_ID:8657093 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:11425916|REF_RGD_ID:8657088 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:10779676|REF_RGD_ID:8657114 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:2202 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: PMID:21958434|REF_RGD_ID:8657122 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002211 Hyperalgesia ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:21864655|REF_RGD_ID:8657099 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002669 Hypoxia ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16553631 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:20818776|REF_RGD_ID:4891129 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002704 Leukoencephalopathies treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24322053|REF_RGD_ID:10045369 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:23212569|REF_RGD_ID:10059360 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:22723694|REF_RGD_ID:8655575 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:10235 D RGD:9068941 20200609 RGD protein:increased expression:cochlea: PMID:19925854|REF_RGD_ID:8636263 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:17275194|REF_RGD_ID:8655559 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002955 Nerve Degeneration ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:18313855|REF_RGD_ID:10059347 8807547 Bdnf brain derived neurotrophic factor gene DOID:9002955 Nerve Degeneration ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15372491|PMID:19457078|PMID:19686240|PMID:8921280|PMID:8978711 8807547 Bdnf brain derived neurotrophic factor gene DOID:9003740 Nerve Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:geniculate ganglion: PMID:19848245|REF_RGD_ID:8655574 8807547 Bdnf brain derived neurotrophic factor gene DOID:9003740 Nerve Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression:mylonhyoid nerve: PMID:23190308|REF_RGD_ID:8657332 8807547 Bdnf brain derived neurotrophic factor gene DOID:9004009 Reperfusion Injury ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:20554625|REF_RGD_ID:4891135 8807547 Bdnf brain derived neurotrophic factor gene DOID:9004354 Alcohol-Related Disorders ISO RGD:2202 D RGD:9068941 20240208 RGD protein:altered expression:brain PMID:10837897|REF_RGD_ID:401965408 8807547 Bdnf brain derived neurotrophic factor gene DOID:9004354 Alcohol-Related Disorders ISO RGD:2202 D RGD:9068941 20240229 RGD protein:altered expression:cerebral cortex PMID:14604765|REF_RGD_ID:401976539 8807547 Bdnf brain derived neurotrophic factor gene DOID:9004354 Alcohol-Related Disorders sexual_dimorphism ISO RGD:2202 D RGD:9068941 20240229 RGD protein:altered expression:frontal cortex,hippocampus,occipital cortex PMID:18652597|REF_RGD_ID:401976540 8807547 Bdnf brain derived neurotrophic factor gene DOID:9004538 Hearing Loss ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea: PMID:18524887|REF_RGD_ID:8655535 8807547 Bdnf brain derived neurotrophic factor gene DOID:9004659 Respiration Disorders ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:8757249|REF_RGD_ID:8655536 8807547 Bdnf brain derived neurotrophic factor gene DOID:9004866 Ataxia ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:9712667|REF_RGD_ID:8632994 8807547 Bdnf brain derived neurotrophic factor gene DOID:9004964 Referred Pain ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:23313710|REF_RGD_ID:8655857 8807547 Bdnf brain derived neurotrophic factor gene DOID:9005111 morphine withdrawal syndrome ISO RGD:2202 D RGD:9068941 20240201 RGD mRNA:increased expression:ventral tegmental area (rat) PMID:30550948|REF_RGD_ID:401959617 8807547 Bdnf brain derived neurotrophic factor gene DOID:9005236 Drug Eruptions ISO RGD:10235 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node, ear: PMID:19904815|REF_RGD_ID:8657071 8807547 Bdnf brain derived neurotrophic factor gene DOID:9005372 Inflammation ISO RGD:10235 D RGD:9068941 20200609 RGD protein:increased expression: trigeminal V ganglion PMID:20223282|REF_RGD_ID:4891140 8807547 Bdnf brain derived neurotrophic factor gene DOID:9005372 Inflammation ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression: trigeminal V ganglion PMID:20223282|REF_RGD_ID:4891140 8807547 Bdnf brain derived neurotrophic factor gene DOID:9005372 Inflammation ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21087489 8807547 Bdnf brain derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14973246|PMID:17618281|PMID:17651427|PMID:18311559|PMID:19321768|PMID:20711185|PMID:20810894 8807547 Bdnf brain derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders severity ISO RGD:2202 D RGD:9068941 20210416 RGD PMID:23583595|REF_RGD_ID:38501054 8807547 Bdnf brain derived neurotrophic factor gene DOID:9005632 Cocaine-Related Disorders susceptibility ISO RGD:2202 D RGD:9068941 20200814 RGD PMID:23583595|REF_RGD_ID:38501054 8807547 Bdnf brain derived neurotrophic factor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24857910|REF_RGD_ID:10059399 8807547 Bdnf brain derived neurotrophic factor gene DOID:9005832 Amyloid Plaques ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:15014117|REF_RGD_ID:10059349 8807547 Bdnf brain derived neurotrophic factor gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:14615047|REF_RGD_ID:8657329 8807547 Bdnf brain derived neurotrophic factor gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:2202 D RGD:9068941 20240203 RGD PMID:29571823|PMID:34964700|REF_RGD_ID:401959211|REF_RGD_ID:401965400 8807547 Bdnf brain derived neurotrophic factor gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:731027 D RGD:9068941 20240229 RGD associated with brain ischemia PMID:29599834|REF_RGD_ID:401976548 8807547 Bdnf brain derived neurotrophic factor gene DOID:9006646 Metabolic Syndrome ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 8807547 Bdnf brain derived neurotrophic factor gene DOID:9007402 Gliosis ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21087489 8807547 Bdnf brain derived neurotrophic factor gene DOID:9007480 Hyperoxia ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:15821016|REF_RGD_ID:4891113 8807547 Bdnf brain derived neurotrophic factor gene DOID:9007633 Body Weight ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 8807547 Bdnf brain derived neurotrophic factor gene DOID:9007980 Sleep Deprivation treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:25450575|REF_RGD_ID:10059355 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008023 Memory Disorders ISO RGD:731027 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Memory impairment, susceptibility to PMID:12140781|PMID:12161822|PMID:12553913|PMID:12836135|PMID:12888803|PMID:15115760|PMID:15337662|PMID:16152572|PMID:16172806|PMID:16222333|PMID:16344533|PMID:16389585|PMID:20075215|PMID:24033266|PMID:25741868|PMID:28492532 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008023 Memory Disorders treatment ISO RGD:10235 D RGD:9068941 20240104 RGD PMID:29157831|REF_RGD_ID:401940181 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008023 Memory Disorders treatment ISO RGD:2202 D RGD:9068941 20240201 RGD PMID:29704550|REF_RGD_ID:401960858 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008023 Memory Disorders treatment ISO RGD:2202 D RGD:9068941 20240201 RGD associated with Subarachnoid Hemorrhage PMID:26822402|REF_RGD_ID:401960859 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:9520478|REF_RGD_ID:8655637 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:11050383|REF_RGD_ID:8655586 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:15140649|REF_RGD_ID:8655584 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008103 Seasonal Allergic Rhinitis severity ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:blood, nasal cavity epithelium PMID:18266897|REF_RGD_ID:5144117 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008520 Chronic Pain ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:decreased expression:anterior cingulate cortex PMID:24518228|REF_RGD_ID:10059366 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008520 Chronic Pain ISO RGD:2202 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, neuron PMID:11360665|REF_RGD_ID:5684922 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008680 Respiratory Tract Infections ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:platelet, serum PMID:17317133|REF_RGD_ID:4891069 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008681 Deafness ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18607918|PMID:19365690 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008681 Deafness treatment ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:23150788|REF_RGD_ID:8655576 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008681 Deafness treatment ISO RGD:731027 D RGD:9068941 20200609 RGD PMID:21452221|REF_RGD_ID:8639313 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008820 Visceral Pain ISO RGD:10235 D RGD:9068941 20200609 RGD PMID:21997550|REF_RGD_ID:8655978 8807547 Bdnf brain derived neurotrophic factor gene DOID:9008820 Visceral Pain ISO RGD:10235 D RGD:9068941 20200609 RGD associated with Colitis; protein:increased expression:dorsal root ganglion: PMID:19932037|REF_RGD_ID:8657331 8807547 Bdnf brain derived neurotrophic factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17151862|REF_RGD_ID:10059350 8807547 Bdnf brain derived neurotrophic factor gene DOID:9427 hypertensive encephalopathy treatment ISO RGD:2202 D RGD:9068941 20200609 RGD PMID:24730417|REF_RGD_ID:10059400 8807547 Bdnf brain derived neurotrophic factor gene DOID:9470 bacterial meningitis ISO RGD:10235 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:16141791|REF_RGD_ID:5684920 8807547 Bdnf brain derived neurotrophic factor gene DOID:9470 bacterial meningitis ISO RGD:2202 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus,cerebral cortex: PMID:22683802|REF_RGD_ID:8655554 8807547 Bdnf brain derived neurotrophic factor gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:731027 D RGD:9068941 20200609 RGD protein:decreased expression:photoreceptor outer segment layer: PMID:18405896|REF_RGD_ID:8655629 8807547 Bdnf brain derived neurotrophic factor gene DOID:9743 diabetic neuropathy ISO RGD:2202 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20557422|REF_RGD_ID:4891134 8807547 Bdnf brain derived neurotrophic factor gene DOID:9778 irritable bowel syndrome ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa,intestinal intestine: PMID:21997550|REF_RGD_ID:8655978 8807547 Bdnf brain derived neurotrophic factor gene DOID:987 alopecia ISO RGD:731027 D RGD:9068941 20200609 RGD protein:increased expression:dermal papilla: PMID:21729031|REF_RGD_ID:8657081 8807547 Bdnf brain derived neurotrophic factor gene DOID:9970 obesity ISO RGD:731027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:11840487|PMID:25741868|PMID:28492532 8807547 Bdnf brain derived neurotrophic factor gene DOID:9975 cocaine dependence ISO RGD:731027 D RGD:9068941 20240203 RGD PMID:14973246|REF_RGD_ID:401965389 8807547 Bdnf brain derived neurotrophic factor gene DOID:9976 heroin dependence ISO RGD:731027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17715210 8807547 Bdnf brain derived neurotrophic factor gene DOID:9976 heroin dependence ISO RGD:731027 D RGD:9068941 20240222 RGD protein:decreased expression:serum PMID:17715210|REF_RGD_ID:401976440 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0050700 cardiomyopathy ISO RGD:732305 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:732305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0111310 familial febrile seizures 2 ISO RGD:732305 D RGD:7240710 20240308 OMIM 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:0111310 familial febrile seizures 2 ISO RGD:732305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 2 PMID:22131395|PMID:24324597|PMID:25741868|PMID:29064616 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:11832 visual epilepsy ISO RGD:620689 D RGD:9068941 20220728 RGD PMID:17988239|REF_RGD_ID:9686135 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:1826 epilepsy ISO RGD:732305 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:2723 dermatitis ISO RGD:620689 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:23236374|REF_RGD_ID:9686396 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:732305 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:630 genetic disease ISO RGD:732305 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9000930 Dental Pulp Exposure ISO RGD:620689 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:17645513|REF_RGD_ID:9686147 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620689 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:myocyte: PMID:19471099|REF_RGD_ID:9693689 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620689 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19815055|REF_RGD_ID:9693680 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9007956 Febrile Seizures ISO RGD:620689 D RGD:9068941 20200609 RGD PMID:15837575|REF_RGD_ID:9686385 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:620689 D RGD:9068941 20200609 RGD PMID:24838625|REF_RGD_ID:9686415 8807562 Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 gene DOID:9471 meningitis ISO RGD:620689 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19409968|REF_RGD_ID:2316615 8807574 Kazn kazrin, periplakin interacting protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604041 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8807574 Kazn kazrin, periplakin interacting protein gene DOID:630 genetic disease ISO RGD:1604041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807600 Zbtb42 zinc finger and BTB domain containing 42 gene DOID:0081002 Cowden syndrome 6 ISO RGD:2290506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cowden syndrome 6 PMID:28492532 8807600 Zbtb42 zinc finger and BTB domain containing 42 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:2290506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8807600 Zbtb42 zinc finger and BTB domain containing 42 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:2290506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8807600 Zbtb42 zinc finger and BTB domain containing 42 gene DOID:630 genetic disease ISO RGD:2290506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807600 Zbtb42 zinc finger and BTB domain containing 42 gene DOID:9001595 Lethal Congenital Contracture Syndrome 6 ISO RGD:2290506 D RGD:7240710 20180130 OMIM 8807600 Zbtb42 zinc finger and BTB domain containing 42 gene DOID:9001595 Lethal Congenital Contracture Syndrome 6 ISO RGD:2290506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6 PMID:25055871|PMID:25741868 8807606 Gfy golgi associated olfactory signaling regulator gene DOID:630 genetic disease ISO RGD:7818825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:0060041 autism spectrum disorder ISO RGD:1606024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1606024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:0111358 Floating-Harbor syndrome ISO RGD:1606024 D RGD:7240710 20180130 OMIM 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:0111358 Floating-Harbor syndrome ISO RGD:1606024 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: SRCAP-related condition PMID:11522779|PMID:11746027|PMID:17576681|PMID:18414213|PMID:20358590|PMID:22265015|PMID:22965468|PMID:23165645|PMID:23193612|PMID:23621943|PMID:23763483|PMID:24970356|PMID:25326637|PMID:25433523|PMID:25590979|PMID:25741868|PMID:26788936|PMID:28492532|PMID:31200758|PMID:31607746|PMID:31715605|PMID:32170002|PMID:33288889|PMID:33909990|PMID:34006472|PMID:34906459|PMID:35664296|PMID:9536098 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:1059 intellectual disability ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868|PMID:32581362 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:10907 microcephaly ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:630 genetic disease ISO RGD:1606024 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11522779|PMID:18414213|PMID:20358590|PMID:22265015|PMID:22965468|PMID:23165645|PMID:23193612|PMID:23621943|PMID:24970356|PMID:25326637|PMID:25433523|PMID:25590979|PMID:25741868|PMID:26788936|PMID:28166811|PMID:28492532|PMID:31200758|PMID:31607746|PMID:31715605|PMID:32170002|PMID:33288889|PMID:33408077|PMID:33909990|PMID:34006472|PMID:34906459|PMID:35664296 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1606024 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development PMID:28492532 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:9004230 DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES ISO RGD:1606024 D RGD:7240710 20220209 OMIM 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:9004230 DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES ISO RGD:1606024 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:33909990 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:33909990 8807614 Srcap Snf2 related CREBBP activator protein gene DOID:9008582 Developmental Disease ISO RGD:1606024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8807667 Pde6d phosphodiesterase 6D gene DOID:0060476 Perlman syndrome ISO RGD:1314689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8807667 Pde6d phosphodiesterase 6D gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314689 D RGD:7240710 20180130 OMIM 8807667 Pde6d phosphodiesterase 6D gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:17496142|PMID:17576681|PMID:24166846|PMID:25741868|PMID:28492532|PMID:30423442|PMID:9536098 8807667 Pde6d phosphodiesterase 6D gene DOID:630 genetic disease ISO RGD:1314689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8807676 Ppp1r12a protein phosphatase 1 regulatory subunit 12A gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1350163 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:28492532 8807676 Ppp1r12a protein phosphatase 1 regulatory subunit 12A gene DOID:422 congenital structural myopathy ISO RGD:1350163 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:28492532 8807676 Ppp1r12a protein phosphatase 1 regulatory subunit 12A gene DOID:630 genetic disease ISO RGD:1350163 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8807676 Ppp1r12a protein phosphatase 1 regulatory subunit 12A gene DOID:9006721 GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME ISO RGD:1350163 D RGD:7240710 20200715 OMIM 8807676 Ppp1r12a protein phosphatase 1 regulatory subunit 12A gene DOID:9006721 GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME ISO RGD:1350163 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genitourinary and/or brain malformation syndrome | ClinVar Annotator: match by term: PPP1R12A-related condition PMID:25741868|PMID:28492532|PMID:31349857|PMID:31883643 8807714 Npffr2 neuropeptide FF receptor 2 gene DOID:630 genetic disease ISO RGD:733261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807722 Tcerg1l transcription elongation regulator 1 like gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8807722 Tcerg1l transcription elongation regulator 1 like gene DOID:630 genetic disease ISO RGD:1346689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807722 Tcerg1l transcription elongation regulator 1 like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 8807737 Cby1 chibby 1, beta catenin antagonist gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8807737 Cby1 chibby 1, beta catenin antagonist gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1343969 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8807737 Cby1 chibby 1, beta catenin antagonist gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8807737 Cby1 chibby 1, beta catenin antagonist gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343969 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:33131181 8807737 Cby1 chibby 1, beta catenin antagonist gene DOID:10283 prostate cancer ISO RGD:1343969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8807737 Cby1 chibby 1, beta catenin antagonist gene DOID:10754 otitis media ISO RGD:1616726 D RGD:9068941 20220825 MouseDO OMIM:166760 8807737 Cby1 chibby 1, beta catenin antagonist gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8807737 Cby1 chibby 1, beta catenin antagonist gene DOID:630 genetic disease ISO RGD:1343969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807737 Cby1 chibby 1, beta catenin antagonist gene DOID:9562 primary ciliary dyskinesia ISO RGD:1616726 D RGD:9068941 20220825 MouseDO 8807755 Sostdc1 sclerostin domain containing 1 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:1343094 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 PMID:23288328|PMID:28492532 8807755 Sostdc1 sclerostin domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8807755 Sostdc1 sclerostin domain containing 1 gene DOID:630 genetic disease ISO RGD:1343094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807774 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:0050700 cardiomyopathy ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 8807774 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:0081292 traumatic brain injury ISO RGD:1304822 D RGD:9068941 20230708 RGD mRNA:decreased expression:cerebral cortex PMID:31992337|REF_RGD_ID:329901857 8807774 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:630 genetic disease ISO RGD:1605646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807774 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9000197 Edema ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 8807774 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 8807774 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9002371 Cardiotoxicity ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 8807774 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8807774 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9005749 Necrosis ISO RGD:1605646 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34648132 8807774 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9007692 Insulin Resistance ISO RGD:1605646 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 8807774 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1605646 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 8807774 Mettl14 methyltransferase 14, N6-adenosine-methyltransferase subunit gene DOID:9538 multiple myeloma ISO RGD:1605646 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 8807792 Meikin meiotic kinetochore factor gene DOID:5419 schizophrenia ISO RGD:9685644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0050562 West syndrome ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26297079|PMID:26467025|PMID:26647175|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31618753|PMID:31625145|PMID:32651551|PMID:32920374|PMID:9536098 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27165006|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31069529|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31675620|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34120799|PMID:34431999|PMID:35701389|PMID:9536098 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0050753 cerebellar ataxia ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0050952 spastic ataxia ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0070375 developmental and epileptic encephalopathy 64 ISO RGD:1351349 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64 PMID:25741868 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351349 D RGD:7240710 20180130 OMIM 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351349 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13 PMID:12374766|PMID:15525788|PMID:15800189|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:23708187|PMID:23934111|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25818041|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235738|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26647175|PMID:26677014|PMID:26680202|PMID:26900580|PMID:26993267|PMID:27165006|PMID:27210545|PMID:27375106|PMID:27779742|PMID:27864847|PMID:27875746|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28708303|PMID:28735751|PMID:28923014|PMID:28973083|PMID:29100083|PMID:29186148|PMID:29263050|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:30078772|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31026061|PMID:31680123|PMID:31780880|PMID:31904124|PMID:32581362|PMID:32845893|PMID:32901917|PMID:32916281|PMID:33201365|PMID:35599849|PMID:35701389|PMID:9536098 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351349 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0081118 benign familial infantile seizures 5 ISO RGD:1351349 D RGD:7240710 20190315 OMIM 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0081118 benign familial infantile seizures 5 ISO RGD:1351349 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 PMID:12374766|PMID:17576681|PMID:17881658|PMID:18414213|PMID:22365152|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25326635|PMID:25326637|PMID:25568300|PMID:25666757|PMID:25741868|PMID:25785782|PMID:25951352|PMID:26029160|PMID:26235739|PMID:26467025|PMID:26677014|PMID:26900580|PMID:27210545|PMID:27779742|PMID:27875746|PMID:28492532|PMID:28923014|PMID:29186148|PMID:29720203|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31026061|PMID:31675620|PMID:35701389|PMID:9536098 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34431999|PMID:9536098 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351349 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12374766|PMID:15525788|PMID:15800189|PMID:16199547|PMID:17576681|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24352161|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25227913|PMID:25239001|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:25799905|PMID:25849321|PMID:25914188|PMID:25951352|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26252990|PMID:26297079|PMID:26467025|PMID:26544041|PMID:26647175|PMID:26677014|PMID:26900580|PMID:26993267|PMID:27165006|PMID:27210545|PMID:27375106|PMID:27659738|PMID:27779742|PMID:27781031|PMID:27864847|PMID:27875746|PMID:27900360|PMID:28135719|PMID:28387369|PMID:28492532|PMID:28676574|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29056246|PMID:29100083|PMID:29121005|PMID:29186148|PMID:29263050|PMID:29356177|PMID:29432985|PMID:29588952|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30171078|PMID:30185235|PMID:30314295|PMID:30615093|PMID:30951195|PMID:30968951|PMID:31026061|PMID:31054490|PMID:31069529|PMID:31402610|PMID:31487502|PMID:31618753|PMID:31625145|PMID:31675620|PMID:31887642|PMID:31904124|PMID:32040247|PMID:32651551|PMID:32725632|PMID:32901917|PMID:32916281|PMID:32920374|PMID:33004838|PMID:33201365|PMID:33827760|PMID:33851778|PMID:34120799|PMID:34431999|PMID:35701389|PMID:9536098 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:1059 intellectual disability ISO RGD:1351349 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:1059 intellectual disability ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27900360|PMID:28492532|PMID:30109124 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:11832 visual epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26993267|PMID:28492532|PMID:29432985|PMID:31625145|PMID:32581362 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:12849 autistic disorder ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:25741868|PMID:28492532 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:1824 status epilepticus ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19306853 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:1826 epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26677014|PMID:26993267|PMID:27864847|PMID:28492532|PMID:28923014|PMID:29432985|PMID:30171078|PMID:30615093|PMID:31625145 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:1826 epilepsy ISO RGD:1351349 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:24888894|PMID:25741868|PMID:26677014|PMID:26993267|PMID:27210545|PMID:27864847|PMID:27875746|PMID:28492532|PMID:28923014|PMID:29432985|PMID:30171078|PMID:30185235|PMID:30615093|PMID:31625145|PMID:32581362 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:2234 focal epilepsy ISO RGD:1351349 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness PMID:18414213|PMID:25741868|PMID:27210545|PMID:27875746|PMID:28492532 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:3327 partial motor epilepsy ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal clonic seizure PMID:25741868 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:6000 congestive heart failure ISO RGD:3638 D RGD:9068941 20200609 RGD mRNA:increased expression:ventricle myocardium PMID:19584134|REF_RGD_ID:6484224 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:630 genetic disease ISO RGD:1351349 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10798388|PMID:12374766|PMID:15525788|PMID:15800189|PMID:17881658|PMID:18414213|PMID:19254928|PMID:19465131|PMID:20869590|PMID:22365152|PMID:23020937|PMID:24194747|PMID:24874546|PMID:24888894|PMID:25046240|PMID:25326635|PMID:25326637|PMID:25568300|PMID:25666757|PMID:25725044|PMID:25741868|PMID:25785782|PMID:26029160|PMID:26220391|PMID:26235739|PMID:26467025|PMID:26680202|PMID:26900580|PMID:26993267|PMID:27165006|PMID:27779742|PMID:27875746|PMID:28492532|PMID:28702509|PMID:28735751|PMID:28923014|PMID:29100083|PMID:29186148|PMID:29356177|PMID:29588952|PMID:29720203|PMID:29924869|PMID:29933521|PMID:30171078|PMID:31026061|PMID:31054490|PMID:31887642|PMID:32040247|PMID:32651551|PMID:33004838|PMID:33201365|PMID:34431999 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:863 nervous system disease ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15170223 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9000495 Tremor ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19261867 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1351349 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:25741868|PMID:28492532|PMID:35701389 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9001793 Generalized Epilepsy ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:24888894|PMID:25568300|PMID:25741868|PMID:25951352|PMID:26029160|PMID:26900580|PMID:27864847|PMID:27900360|PMID:28492532|PMID:28923014|PMID:30109124|PMID:30171078|PMID:30615093 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9002512 Postherpetic Neuralgia ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9002704 Leukoencephalopathies ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868|PMID:28492532 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9002834 Herpesviridae Infections ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9003930 Familial Myoclonus 2 ISO RGD:1351349 D RGD:7240710 20190501 OMIM 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9003930 Familial Myoclonus 2 ISO RGD:1351349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoclonus, familial, 2 PMID:25741868|PMID:26467025|PMID:27875746|PMID:28492532|PMID:29726066 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351349 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9004866 Ataxia ISO RGD:1351349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19261867 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9007 sudden infant death syndrome ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9007956 Febrile Seizures ISO RGD:1351349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868|PMID:28492532 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1351349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:25725044|PMID:25741868|PMID:27900360|PMID:28492532|PMID:30109124|PMID:31625145|PMID:32581362 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1351349 D RGD:7240710 20180130 OMIM 8807813 Scn8a sodium voltage-gated channel alpha subunit 8 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1351349 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:12374766|PMID:16236810|PMID:17881658|PMID:22365152|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25785782|PMID:26235739|PMID:26467025|PMID:26993267|PMID:27659738|PMID:27779742|PMID:27875746|PMID:28492532|PMID:28702509|PMID:28923014|PMID:29100083|PMID:29186148|PMID:29720203|PMID:30171078|PMID:30868116|PMID:30968951|PMID:31618753|PMID:31780880|PMID:31904124|PMID:32845893|PMID:33201365|PMID:33851778|PMID:35599849|PMID:35701389 8807864 Nsg1 neuronal vesicle trafficking associated 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:737576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8807902 Marchf7 membrane associated ring-CH-type finger 7 gene DOID:12849 autistic disorder ISO RGD:1603971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 8807902 Marchf7 membrane associated ring-CH-type finger 7 gene DOID:630 genetic disease ISO RGD:1603971 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807935 Mafa MAF bZIP transcription factor A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1557163 D RGD:9068941 20220825 MouseDO OMIM:606391 8807935 Mafa MAF bZIP transcription factor A gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1604438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8807935 Mafa MAF bZIP transcription factor A gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1604438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8807935 Mafa MAF bZIP transcription factor A gene DOID:4621 holoprosencephaly ISO RGD:1604438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8807935 Mafa MAF bZIP transcription factor A gene DOID:630 genetic disease ISO RGD:1604438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807935 Mafa MAF bZIP transcription factor A gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1604438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PMID:25741868 8807935 Mafa MAF bZIP transcription factor A gene DOID:9004540 Islet Cell Adenomatosis ISO RGD:1604438 D RGD:7240710 20200304 OMIM 8807935 Mafa MAF bZIP transcription factor A gene DOID:9004540 Islet Cell Adenomatosis ISO RGD:1604438 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Islet cell adenomatosis PMID:25741868|PMID:29339498|PMID:35406570 8807935 Mafa MAF bZIP transcription factor A gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1557163 D RGD:9068941 20200609 RGD PMID:28487936|REF_RGD_ID:13506743 8807935 Mafa MAF bZIP transcription factor A gene DOID:9351 diabetes mellitus treatment ISO RGD:1562627 D RGD:9068941 20200609 RGD PMID:23801580|REF_RGD_ID:13506744 8807935 Mafa MAF bZIP transcription factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1557163 D RGD:9068941 20200609 RGD protein:decreased expression:beta cells of pancrea PMID:20424231|REF_RGD_ID:13506745 8807935 Mafa MAF bZIP transcription factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1557163 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8807935 Mafa MAF bZIP transcription factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604438 D RGD:9068941 20200609 RGD protein:decreased expression:islet: PMID:24013263|REF_RGD_ID:13506742 8807940 Thrap3 thyroid hormone receptor associated protein 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8807940 Thrap3 thyroid hormone receptor associated protein 3 gene DOID:630 genetic disease ISO RGD:1314565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807977 Lamp3 lysosomal associated membrane protein 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1317407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8807977 Lamp3 lysosomal associated membrane protein 3 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1317407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8807977 Lamp3 lysosomal associated membrane protein 3 gene DOID:0111546 Currarino syndrome ISO RGD:1317407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8807977 Lamp3 lysosomal associated membrane protein 3 gene DOID:630 genetic disease ISO RGD:1317407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8807977 Lamp3 lysosomal associated membrane protein 3 gene DOID:9001488 Human Influenza ISO RGD:1317407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8808000 Lrrc8d leucine rich repeat containing 8 VRAC subunit D gene DOID:630 genetic disease ISO RGD:1320026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808010 Prss50 serine protease 50 gene DOID:630 genetic disease ISO RGD:1605685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808010 Prss50 serine protease 50 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8808022 Gfus GDP-L-fucose synthase gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8808022 Gfus GDP-L-fucose synthase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8808022 Gfus GDP-L-fucose synthase gene DOID:4621 holoprosencephaly ISO RGD:1315979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8808022 Gfus GDP-L-fucose synthase gene DOID:630 genetic disease ISO RGD:1315979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808046 Akr7a2 aldo-keto reductase family 7 member A2 gene DOID:0060041 autism spectrum disorder ISO RGD:732683 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8808046 Akr7a2 aldo-keto reductase family 7 member A2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:732683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8808046 Akr7a2 aldo-keto reductase family 7 member A2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732683 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8808046 Akr7a2 aldo-keto reductase family 7 member A2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:732683 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8808046 Akr7a2 aldo-keto reductase family 7 member A2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:732683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8808046 Akr7a2 aldo-keto reductase family 7 member A2 gene DOID:10652 Alzheimer's disease ISO RGD:732683 D RGD:9068941 20200609 RGD protein:increased expression:superior, middle temporal gyrus; PMID:11597610|REF_RGD_ID:14349051 8808046 Akr7a2 aldo-keto reductase family 7 member A2 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:732683 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19077459|REF_RGD_ID:2325696 8808046 Akr7a2 aldo-keto reductase family 7 member A2 gene DOID:630 genetic disease ISO RGD:732683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808046 Akr7a2 aldo-keto reductase family 7 member A2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:732683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8808056 Ankrd13b ankyrin repeat domain 13B gene DOID:0111253 neurofibromatosis 1 ISO RGD:1606740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8808056 Ankrd13b ankyrin repeat domain 13B gene DOID:630 genetic disease ISO RGD:1606740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28492532|PMID:32014858 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321376 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:23847139|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28157192|PMID:28492532|PMID:30134391|PMID:32014858|PMID:36909829 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:0050817 Stargardt disease ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1321376 D RGD:7240710 20180130 OMIM 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1321376 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21232531|PMID:21602930|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26868535|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33970760|PMID:34001834|PMID:34448047|PMID:34567070|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:9536098 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:32014858 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30979730|PMID:31054281|PMID:32014858 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1321376 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:34448047|PMID:35006499|PMID:36909829 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:1242 globe disease ISO RGD:1321376 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:15258582|PMID:15322982|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17964524|PMID:19011012|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30979730|PMID:31814694|PMID:32014858|PMID:32865313|PMID:34448047 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:34001834|PMID:34448047|PMID:9536098 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36690427|PMID:36909829|PMID:9536098 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321376 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36690427|PMID:36909829|PMID:9536098 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:4448 macular degeneration ISO RGD:1321376 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:22065924|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32014858|PMID:32790509|PMID:34001834|PMID:36909829 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:607 paraplegia ISO RGD:1321376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:630 genetic disease ISO RGD:1321376 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34001834 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1321376 D RGD:9068941 20200609 RGD PMID:15322982|REF_RGD_ID:1599415 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:8466 retinal degeneration ISO RGD:1321376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16269441 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:8501 fundus dystrophy ISO RGD:1321376 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:33090715|PMID:33576794|PMID:34001834|PMID:34448047|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:9536098 8808078 Rdh12 retinol dehydrogenase 12 gene DOID:9008296 Eye Abnormalities ISO RGD:1321376 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 8808089 Wnk2 WNK lysine deficient protein kinase 2 gene DOID:224 transient cerebral ischemia ISO RGD:1307284 D RGD:9068941 20200609 RGD PMID:27798271|REF_RGD_ID:14398833 8808089 Wnk2 WNK lysine deficient protein kinase 2 gene DOID:630 genetic disease ISO RGD:1349205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808127 Atoh1 atonal bHLH transcription factor 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1349240 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss PMID:25741868|PMID:33111345 8808127 Atoh1 atonal bHLH transcription factor 1 gene DOID:0050902 medulloblastoma ISO RGD:1349240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18347096 8808127 Atoh1 atonal bHLH transcription factor 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1349240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:25741868 8808127 Atoh1 atonal bHLH transcription factor 1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1349240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:25741868 8808127 Atoh1 atonal bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1349240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808127 Atoh1 atonal bHLH transcription factor 1 gene DOID:9003948 Autosomal Dominant Nonsyndromic Deafness 89 ISO RGD:1349240 D RGD:7240710 20230505 OMIM 8808127 Atoh1 atonal bHLH transcription factor 1 gene DOID:9003948 Autosomal Dominant Nonsyndromic Deafness 89 ISO RGD:1349240 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 89 PMID:25741868|PMID:33111345 8808127 Atoh1 atonal bHLH transcription factor 1 gene DOID:9004538 Hearing Loss ISO RGD:1349240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:25741868 8808127 Atoh1 atonal bHLH transcription factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8808130 Tmem63c transmembrane protein 63C gene DOID:0070456 hereditary spastic paraplegia 87 ISO RGD:1320973 D RGD:7240710 20220810 OMIM 8808130 Tmem63c transmembrane protein 63C gene DOID:0070456 hereditary spastic paraplegia 87 ISO RGD:1320973 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive PMID:35718349 8808130 Tmem63c transmembrane protein 63C gene DOID:1059 intellectual disability ISO RGD:1320973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8808130 Tmem63c transmembrane protein 63C gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1320973 D RGD:9068941 20210820 RGD protein:decreased expression:kidney,renal glomerulus (human) PMID:30900988|REF_RGD_ID:15023481 8808130 Tmem63c transmembrane protein 63C gene DOID:630 genetic disease ISO RGD:1320973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808130 Tmem63c transmembrane protein 63C gene DOID:9001542 Albuminuria ISO RGD:1310207 D RGD:9068941 20210820 RGD mRNA:increased expression:kidney,renal glomerulus (rat) PMID:30900988|REF_RGD_ID:15023481 8808181 Znf407 zinc finger protein 407 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1344883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8808181 Znf407 zinc finger protein 407 gene DOID:630 genetic disease ISO RGD:1344883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8808181 Znf407 zinc finger protein 407 gene DOID:6420 pulmonary valve stenosis ISO RGD:1344883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8808181 Znf407 zinc finger protein 407 gene DOID:8445 intestinal volvulus ISO RGD:1344883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8808181 Znf407 zinc finger protein 407 gene DOID:9000997 Tsukahara Syndrome ISO RGD:1344883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation PMID:25741868 8808181 Znf407 zinc finger protein 407 gene DOID:9003499 SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES ISO RGD:1344883 D RGD:7240710 20211215 OMIM 8808181 Znf407 zinc finger protein 407 gene DOID:9003499 SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES ISO RGD:1344883 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | ClinVar Annotator: match by term: ZNF407-related condition PMID:24907849|PMID:25741868|PMID:32737394 8808181 Znf407 zinc finger protein 407 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8808181 Znf407 zinc finger protein 407 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8808194 Ate1 arginyltransferase 1 gene DOID:2340 craniosynostosis ISO RGD:1319626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 8808194 Ate1 arginyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808218 Pnldc1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1318591 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 8808218 Pnldc1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1318591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8808218 Pnldc1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:1318591 D RGD:7240710 20210922 OMIM 8808218 Pnldc1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:1318591 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 57 PMID:25741868|PMID:34347949|PMID:35476664 8808218 Pnldc1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:14228 oligospermia ISO RGD:1318591 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Oligospermia PMID:25741868 8808218 Pnldc1 PARN like ribonuclease domain containing exonuclease 1 gene DOID:630 genetic disease ISO RGD:1318591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808246 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:733493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8808246 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0111248 cerebrocostomandibular syndrome ISO RGD:733493 D RGD:7240710 20180130 OMIM 8808246 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:0111248 cerebrocostomandibular syndrome ISO RGD:733493 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome | ClinVar Annotator: match by term: RIB GAP DEFECTS WITH MICROGNATHIA PMID:25047197|PMID:25504470|PMID:25741868|PMID:26240113|PMID:26971886|PMID:28492532 8808246 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:1059 intellectual disability ISO RGD:733493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 8808246 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:3492 mixed connective tissue disease ISO RGD:733493 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 8808246 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:733493 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:22876301|REF_RGD_ID:10768834 8808246 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8808246 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:733493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pierre Robin Syndrome 8808246 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:630 genetic disease ISO RGD:733493 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8808246 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8808246 Snrpb small nuclear ribonucleoprotein polypeptides B and B1 gene DOID:9000918 Disease Progression ISO RGD:733493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8808283 Plcb2 phospholipase C beta 2 gene DOID:13501 Moebius syndrome ISO RGD:732409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 8808283 Plcb2 phospholipase C beta 2 gene DOID:1588 thrombocytopenia ISO RGD:732409 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868 8808283 Plcb2 phospholipase C beta 2 gene DOID:2717 Bloom syndrome ISO RGD:732409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8808283 Plcb2 phospholipase C beta 2 gene DOID:630 genetic disease ISO RGD:732409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808283 Plcb2 phospholipase C beta 2 gene DOID:9256 colorectal cancer ISO RGD:732409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8808324 Mfhas1 multifunctional ROCO family signaling regulator 1 gene DOID:2661 myoepithelioma ISO RGD:1318798 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8808324 Mfhas1 multifunctional ROCO family signaling regulator 1 gene DOID:4415 fibrous histiocytoma ISO RGD:1318798 D RGD:9068941 20200609 RGD PMID:9973190|REF_RGD_ID:1599928 8808324 Mfhas1 multifunctional ROCO family signaling regulator 1 gene DOID:630 genetic disease ISO RGD:1318798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808324 Mfhas1 multifunctional ROCO family signaling regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8808338 Garin2 golgi associated RAB2 interactor family member 2 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1353197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 8808338 Garin2 golgi associated RAB2 interactor family member 2 gene DOID:630 genetic disease ISO RGD:1353197 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808359 Pabpc1 poly(A) binding protein cytoplasmic 1 gene DOID:0080600 COVID-19 ISO RGD:1349848 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 8808359 Pabpc1 poly(A) binding protein cytoplasmic 1 gene DOID:0111590 Cohen syndrome ISO RGD:1349848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8808359 Pabpc1 poly(A) binding protein cytoplasmic 1 gene DOID:11054 urinary bladder cancer ISO RGD:1349848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783786 8808359 Pabpc1 poly(A) binding protein cytoplasmic 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1349848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783786 8808359 Pabpc1 poly(A) binding protein cytoplasmic 1 gene DOID:3307 teratoma ISO RGD:1349848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8808359 Pabpc1 poly(A) binding protein cytoplasmic 1 gene DOID:630 genetic disease ISO RGD:1349848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808359 Pabpc1 poly(A) binding protein cytoplasmic 1 gene DOID:9007098 Pulmonary Atresia ISO RGD:1349848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 8808359 Pabpc1 poly(A) binding protein cytoplasmic 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1349848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8808397 Klhl29 kelch like family member 29 gene DOID:630 genetic disease ISO RGD:1605890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808425 Eif4g2 eukaryotic translation initiation factor 4 gamma 2 gene DOID:10763 hypertension ISO RGD:1305294 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:12708758|REF_RGD_ID:10755511 8808425 Eif4g2 eukaryotic translation initiation factor 4 gamma 2 gene DOID:1591 renovascular hypertension ISO RGD:1305294 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:12708758|REF_RGD_ID:10755511 8808425 Eif4g2 eukaryotic translation initiation factor 4 gamma 2 gene DOID:630 genetic disease ISO RGD:1313238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808425 Eif4g2 eukaryotic translation initiation factor 4 gamma 2 gene DOID:916 liver benign neoplasm ISO RGD:1313239 D RGD:9068941 20200609 RGD PMID:9633945|REF_RGD_ID:10755510 8808451 Mrps16 mitochondrial ribosomal protein S16 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1321233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8808451 Mrps16 mitochondrial ribosomal protein S16 gene DOID:0111483 combined oxidative phosphorylation deficiency 2 ISO RGD:1321233 D RGD:7240710 20180130 OMIM 8808451 Mrps16 mitochondrial ribosomal protein S16 gene DOID:0111483 combined oxidative phosphorylation deficiency 2 ISO RGD:1321233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 PMID:15505824|PMID:18539099|PMID:25741868|PMID:28492532|PMID:28749478 8808451 Mrps16 mitochondrial ribosomal protein S16 gene DOID:630 genetic disease ISO RGD:1321233 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8808458 Dhx9 DExH-box helicase 9 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8808458 Dhx9 DExH-box helicase 9 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318384 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868 8808458 Dhx9 DExH-box helicase 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8808458 Dhx9 DExH-box helicase 9 gene DOID:630 genetic disease ISO RGD:1318384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808458 Dhx9 DExH-box helicase 9 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8808458 Dhx9 DExH-box helicase 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8808493 Plppr4 phospholipid phosphatase related 4 gene DOID:630 genetic disease ISO RGD:1605099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808506 Ppp1r14b protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8808506 Ppp1r14b protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:1059 intellectual disability ISO RGD:1344402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8808506 Ppp1r14b protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:1909 melanoma ISO RGD:1344402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8808506 Ppp1r14b protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:3070 high grade glioma ISO RGD:1344402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8808506 Ppp1r14b protein phosphatase 1 regulatory inhibitor subunit 14B gene DOID:630 genetic disease ISO RGD:1344402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808513 Padi6 peptidyl arginine deiminase 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1354366 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8808513 Padi6 peptidyl arginine deiminase 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1354366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:31042289 8808513 Padi6 peptidyl arginine deiminase 6 gene DOID:630 genetic disease ISO RGD:1354366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808513 Padi6 peptidyl arginine deiminase 6 gene DOID:9000708 Oocyte/Zygote/Embryo Maturation Arrest 16 ISO RGD:1354366 D RGD:7240710 20190315 OMIM 8808513 Padi6 peptidyl arginine deiminase 6 gene DOID:9000708 Oocyte/Zygote/Embryo Maturation Arrest 16 ISO RGD:1354366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preimplantation embryonic lethality 2 PMID:25741868|PMID:27545678|PMID:34987164 8808532 Pds5a PDS5 cohesin associated factor A gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1316082 D RGD:9068941 20220825 MouseDO OMIM:122470 | OMIM:300590 | OMIM:300882 | OMIM:610759 | OMIM:614701 8808532 Pds5a PDS5 cohesin associated factor A gene DOID:630 genetic disease ISO RGD:1604045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808532 Pds5a PDS5 cohesin associated factor A gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1604045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8808532 Pds5a PDS5 cohesin associated factor A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8808532 Pds5a PDS5 cohesin associated factor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8808575 Acsl3 acyl-CoA synthetase long chain family member 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1602231 D RGD:9068941 20200609 RGD PMID:27270436|REF_RGD_ID:13831303 8808575 Acsl3 acyl-CoA synthetase long chain family member 3 gene DOID:10283 prostate cancer treatment ISO RGD:1602231 D RGD:9068941 20200609 RGD PMID:27270436|REF_RGD_ID:13831303 8808575 Acsl3 acyl-CoA synthetase long chain family member 3 gene DOID:1324 lung cancer ISO RGD:1602231 D RGD:9068941 20200609 RGD PMID:23936004|REF_RGD_ID:13831302 8808575 Acsl3 acyl-CoA synthetase long chain family member 3 gene DOID:1612 breast cancer ISO RGD:1602231 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:23512947|REF_RGD_ID:13831301 8808575 Acsl3 acyl-CoA synthetase long chain family member 3 gene DOID:1612 breast cancer disease_progression ISO RGD:1602231 D RGD:9068941 20200609 RGD DNA:deletion PMID:28977883|REF_RGD_ID:13831299 8808575 Acsl3 acyl-CoA synthetase long chain family member 3 gene DOID:2841 asthma ISO RGD:1602231 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:19221603|REF_RGD_ID:13831295 8808575 Acsl3 acyl-CoA synthetase long chain family member 3 gene DOID:630 genetic disease ISO RGD:1602231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808575 Acsl3 acyl-CoA synthetase long chain family member 3 gene DOID:9002283 Experimental Allergic Asthma ISO RGD:733171 D RGD:9068941 20200609 RGD PMID:23526225|REF_RGD_ID:13831300 8808575 Acsl3 acyl-CoA synthetase long chain family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8808575 Acsl3 acyl-CoA synthetase long chain family member 3 gene DOID:9005372 Inflammation ISO RGD:70552 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:14622223|REF_RGD_ID:2315920 8808575 Acsl3 acyl-CoA synthetase long chain family member 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70552 D RGD:9068941 20200609 RGD PMID:21136146|REF_RGD_ID:13831298 8808575 Acsl3 acyl-CoA synthetase long chain family member 3 gene DOID:9007925 Sudden Cardiac Death disease_progression ISO RGD:1602231 D RGD:9068941 20200609 RGD PMID:22661490|REF_RGD_ID:13831296 8808602 Abhd14a abhydrolase domain containing 14A gene DOID:630 genetic disease ISO RGD:1601874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808610 Atox1 antioxidant 1 copper chaperone gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8808610 Atox1 antioxidant 1 copper chaperone gene DOID:10763 hypertension ISO RGD:737338 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22753205 8808610 Atox1 antioxidant 1 copper chaperone gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:732672 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:19656261|REF_RGD_ID:13524567 8808610 Atox1 antioxidant 1 copper chaperone gene DOID:630 genetic disease ISO RGD:737338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808610 Atox1 antioxidant 1 copper chaperone gene DOID:9005172 Lung Neoplasms ISO RGD:737338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624903 8808610 Atox1 antioxidant 1 copper chaperone gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737338 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8808610 Atox1 antioxidant 1 copper chaperone gene DOID:9008443 Colorectal Neoplasms ISO RGD:737338 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31961892 8808610 Atox1 antioxidant 1 copper chaperone gene DOID:9008510 Chronic Hepatitis ISO RGD:737338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 8808623 Uri1 URI1 prefoldin like chaperone gene DOID:305 carcinoma ISO RGD:1321217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 8808623 Uri1 URI1 prefoldin like chaperone gene DOID:630 genetic disease ISO RGD:1321217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808623 Uri1 URI1 prefoldin like chaperone gene DOID:9002170 Experimental Neoplasms ISO RGD:1321217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 8808623 Uri1 URI1 prefoldin like chaperone gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 8808645 Nipal1 NIPA like domain containing 1 gene DOID:630 genetic disease ISO RGD:1602833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808660 Rpl36a ribosomal protein L36a gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1315369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8808660 Rpl36a ribosomal protein L36a gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1315369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8808660 Rpl36a ribosomal protein L36a gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1315369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8808660 Rpl36a ribosomal protein L36a gene DOID:12849 autistic disorder ISO RGD:1315369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8808660 Rpl36a ribosomal protein L36a gene DOID:14499 Fabry disease ISO RGD:1315369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 8808660 Rpl36a ribosomal protein L36a gene DOID:3910 lung adenocarcinoma ISO RGD:1315369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8808660 Rpl36a ribosomal protein L36a gene DOID:9006205 Animal Disease Models ISO RGD:1315369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8808660 Rpl36a ribosomal protein L36a gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1315369 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 8808669 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:1314853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808669 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:9000084 Childhood-Onset Neurodegeneration with Cerebellar Atrophy ISO RGD:1314853 D RGD:7240710 20190501 OMIM 8808669 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:9000084 Childhood-Onset Neurodegeneration with Cerebellar Atrophy ISO RGD:1314853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar atrophy PMID:25741868|PMID:30420557|PMID:33624935 8808669 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1314853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16952463 8808669 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1314853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8808669 Agtpbp1 ATP/GTP binding carboxypeptidase 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1314853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures PMID:25741868|PMID:30420557 8808717 Cdk8 cyclin dependent kinase 8 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:1348539 D RGD:9068941 20220929 RGD DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human) PMID:34815954|REF_RGD_ID:155260314 8808717 Cdk8 cyclin dependent kinase 8 gene DOID:14289 Ebstein anomaly ISO RGD:1348539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ebstein anomaly PMID:25741868 8808717 Cdk8 cyclin dependent kinase 8 gene DOID:630 genetic disease ISO RGD:1348539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808717 Cdk8 cyclin dependent kinase 8 gene DOID:9001861 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES ISO RGD:1348539 D RGD:7240710 20200226 OMIM 8808717 Cdk8 cyclin dependent kinase 8 gene DOID:9001861 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES ISO RGD:1348539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia and behavioral abnormalities PMID:25741868|PMID:30905399 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348755 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:0050476 Barth syndrome ISO RGD:1348755 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria PMID:10480214|PMID:11238270|PMID:11748843|PMID:11968085|PMID:14662265|PMID:15793838|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:1719174|PMID:17576681|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22410210|PMID:23409742|PMID:23660394|PMID:24033266|PMID:24365856|PMID:24962355|PMID:25652404|PMID:25741868|PMID:26471271|PMID:26845103|PMID:28492532|PMID:29334594|PMID:30831263|PMID:31333075|PMID:31559736|PMID:31568572|PMID:9345098|PMID:9384614|PMID:9536098 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:0050700 cardiomyopathy ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1348755 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1348755 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:12849 autistic disorder ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:12929 endocardial fibroelastosis ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endocardial fibroelastosis 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:13628 favism ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1348755 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:607 paraplegia ISO RGD:1348755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:630 genetic disease ISO RGD:1348755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1348755 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 8808737 Dnase1l1 deoxyribonuclease 1 like 1 gene DOID:9002720 Splenomegaly ISO RGD:1348755 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8808749 Usp12 ubiquitin specific peptidase 12 gene DOID:630 genetic disease ISO RGD:1317587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808765 Tmem214 transmembrane protein 214 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8808765 Tmem214 transmembrane protein 214 gene DOID:12849 autistic disorder ISO RGD:1606543 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism 8808765 Tmem214 transmembrane protein 214 gene DOID:630 genetic disease ISO RGD:1606543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808765 Tmem214 transmembrane protein 214 gene DOID:9006836 Contracture ISO RGD:1606543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8808785 Tmco3 transmembrane and coiled-coil domains 3 gene DOID:2222 factor X deficiency ISO RGD:1315285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8808785 Tmco3 transmembrane and coiled-coil domains 3 gene DOID:630 genetic disease ISO RGD:1315285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808807 Uxs1 UDP-glucuronate decarboxylase 1 gene DOID:630 genetic disease ISO RGD:735996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808807 Uxs1 UDP-glucuronate decarboxylase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 8808835 Rgr retinal G protein coupled receptor gene DOID:0050795 cone dystrophy ISO RGD:1319366 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10581022|PMID:25741868|PMID:27623334|PMID:28492532|PMID:30337596|PMID:32531858|PMID:34229535 8808835 Rgr retinal G protein coupled receptor gene DOID:0110394 retinitis pigmentosa 44 ISO RGD:1319366 D RGD:7240710 20180130 OMIM 8808835 Rgr retinal G protein coupled receptor gene DOID:0110394 retinitis pigmentosa 44 ISO RGD:1319366 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 44 PMID:10581022|PMID:17576681|PMID:25741868|PMID:27623334|PMID:27748892|PMID:28041643|PMID:28492532|PMID:28838317|PMID:30337596|PMID:30347075|PMID:32531858|PMID:33546218|PMID:34229535|PMID:9536098 8808835 Rgr retinal G protein coupled receptor gene DOID:10584 retinitis pigmentosa ISO RGD:1319366 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10581022|PMID:16199547|PMID:24265693|PMID:25741868|PMID:28492532|PMID:31429209|PMID:32483926 8808835 Rgr retinal G protein coupled receptor gene DOID:630 genetic disease ISO RGD:1319366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8808835 Rgr retinal G protein coupled receptor gene DOID:8501 fundus dystrophy ISO RGD:1319366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10581022|PMID:28041643 8808849 Lcmt2 leucine carboxyl methyltransferase 2 gene DOID:2717 Bloom syndrome ISO RGD:1314097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8808849 Lcmt2 leucine carboxyl methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1314097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808849 Lcmt2 leucine carboxyl methyltransferase 2 gene DOID:9256 colorectal cancer ISO RGD:1314097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8808855 Prepl prolyl endopeptidase like gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1606027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 8808855 Prepl prolyl endopeptidase like gene DOID:0080587 congenital myasthenic syndrome 22 ISO RGD:1606027 D RGD:7240710 20190315 OMIM 8808855 Prepl prolyl endopeptidase like gene DOID:0080587 congenital myasthenic syndrome 22 ISO RGD:1606027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 | ClinVar Annotator: match by term: PREPL DEFICIENCY PMID:10737983|PMID:16199547|PMID:17576681|PMID:19782624|PMID:22796000|PMID:24033266|PMID:24610330|PMID:25741868|PMID:28492532|PMID:28726805|PMID:29483676|PMID:29913539|PMID:32707643|PMID:32860008|PMID:33233562|PMID:9536098 8808855 Prepl prolyl endopeptidase like gene DOID:1059 intellectual disability ISO RGD:1606027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8808855 Prepl prolyl endopeptidase like gene DOID:3635 congenital myasthenic syndrome ISO RGD:1606027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8808855 Prepl prolyl endopeptidase like gene DOID:3883 Lynch syndrome ISO RGD:1606027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8808855 Prepl prolyl endopeptidase like gene DOID:5426 primary ovarian insufficiency ISO RGD:1606027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8808855 Prepl prolyl endopeptidase like gene DOID:630 genetic disease ISO RGD:1606027 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8808855 Prepl prolyl endopeptidase like gene DOID:9266 cystinuria ISO RGD:1606027 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:10620184|PMID:10737983|PMID:11260385|PMID:11524703|PMID:11748844|PMID:12820697|PMID:14531788|PMID:15635077|PMID:16374432|PMID:18234729|PMID:19782624|PMID:20517292|PMID:21677404|PMID:22493502|PMID:22796000|PMID:23532419|PMID:24033266|PMID:24610330|PMID:25109415|PMID:25640679|PMID:25741868|PMID:25964309|PMID:26537754|PMID:28492532|PMID:28646536|PMID:28717662|PMID:30586318|PMID:30773290|PMID:32133030|PMID:33349102|PMID:37716586|PMID:7573036|PMID:8054986|PMID:8792820|PMID:9648062|PMID:9768685 8808899 Fam83b family with sequence similarity 83 member B gene DOID:630 genetic disease ISO RGD:1323733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8808916 Dnah3 dynein axonemal heavy chain 3 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1314138 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 PMID:32017041 8808916 Dnah3 dynein axonemal heavy chain 3 gene DOID:10283 prostate cancer ISO RGD:1314138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8808916 Dnah3 dynein axonemal heavy chain 3 gene DOID:1059 intellectual disability ISO RGD:1314138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8808916 Dnah3 dynein axonemal heavy chain 3 gene DOID:630 genetic disease ISO RGD:1314138 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:32017041 8808982 Hectd3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8808982 Hectd3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1606229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 8808982 Hectd3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8808982 Hectd3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8808982 Hectd3 HECT domain E3 ubiquitin protein ligase 3 gene DOID:630 genetic disease ISO RGD:1606229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809006 LOC102006544 cytochrome b-c1 complex subunit 8 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1604364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 8809006 LOC102006544 cytochrome b-c1 complex subunit 8 gene DOID:0080113 mitochondrial complex III deficiency nuclear type 4 ISO RGD:1604364 D RGD:7240710 20180130 OMIM 8809006 LOC102006544 cytochrome b-c1 complex subunit 8 gene DOID:0080113 mitochondrial complex III deficiency nuclear type 4 ISO RGD:1604364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 4 PMID:18439546|PMID:25741868|PMID:28492532 8809006 LOC102006544 cytochrome b-c1 complex subunit 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604364 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8809006 LOC102006544 cytochrome b-c1 complex subunit 8 gene DOID:630 genetic disease ISO RGD:1604364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809006 LOC102006544 cytochrome b-c1 complex subunit 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8809006 LOC102006544 cytochrome b-c1 complex subunit 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604364 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8809016 Vps53 VPS53 subunit of GARP complex gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1605366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:24577744|PMID:25741868|PMID:30100179 8809016 Vps53 VPS53 subunit of GARP complex gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1605366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:24577744|PMID:25741868|PMID:30100179 8809016 Vps53 VPS53 subunit of GARP complex gene DOID:0060271 pontocerebellar hypoplasia type 2E ISO RGD:1605366 D RGD:7240710 20180130 OMIM 8809016 Vps53 VPS53 subunit of GARP complex gene DOID:0060271 pontocerebellar hypoplasia type 2E ISO RGD:1605366 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2E PMID:12920088|PMID:24577744|PMID:25741868|PMID:28492532|PMID:28567303|PMID:30100179 8809016 Vps53 VPS53 subunit of GARP complex gene DOID:10907 microcephaly ISO RGD:1605366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8809016 Vps53 VPS53 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1605366 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8809016 Vps53 VPS53 subunit of GARP complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 8809041 Thoc6 THO complex subunit 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1601739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8809041 Thoc6 THO complex subunit 6 gene DOID:1826 epilepsy ISO RGD:1601739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8809041 Thoc6 THO complex subunit 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1601739 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8809041 Thoc6 THO complex subunit 6 gene DOID:630 genetic disease ISO RGD:1601739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26739162|PMID:27102954|PMID:27295358|PMID:30476144|PMID:31421288|PMID:32790266 8809041 Thoc6 THO complex subunit 6 gene DOID:9006768 Beaulieu-Boycott-Innes Syndrome ISO RGD:1601739 D RGD:7240710 20180130 OMIM 8809041 Thoc6 THO complex subunit 6 gene DOID:9006768 Beaulieu-Boycott-Innes Syndrome ISO RGD:1601739 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations | ClinVar Annotator: match by term: THOC6-related condition PMID:16199547|PMID:18414213|PMID:23621916|PMID:25741868|PMID:26739162|PMID:27102954|PMID:27295358|PMID:28492532|PMID:30238602|PMID:30476144|PMID:31421288|PMID:32790266 8809063 Sp9 Sp9 transcription factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:2303677 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8809063 Sp9 Sp9 transcription factor gene DOID:1059 intellectual disability ISO RGD:2303677 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:38288683 8809063 Sp9 Sp9 transcription factor gene DOID:12849 autistic disorder ISO RGD:2303677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior 8809063 Sp9 Sp9 transcription factor gene DOID:630 genetic disease ISO RGD:2303677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809063 Sp9 Sp9 transcription factor gene DOID:9001793 Generalized Epilepsy ISO RGD:2303677 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:38288683 8809063 Sp9 Sp9 transcription factor gene DOID:9005603 Muscle Hypotonia ISO RGD:2303677 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Muscular hypotonia PMID:25741868|PMID:38288683 8809070 Drg1 developmentally regulated GTP binding protein 1 gene DOID:630 genetic disease ISO RGD:1312753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809070 Drg1 developmentally regulated GTP binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8809070 Drg1 developmentally regulated GTP binding protein 1 gene DOID:9006836 Contracture ISO RGD:1312753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8809070 Drg1 developmentally regulated GTP binding protein 1 gene DOID:9007532 TAN-ALMURSHEDI SYNDROME ISO RGD:1312753 D RGD:7240710 20240306 OMIM 8809070 Drg1 developmentally regulated GTP binding protein 1 gene DOID:9007532 TAN-ALMURSHEDI SYNDROME ISO RGD:1312753 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tan-Almurshedi syndrome 8809105 Optn optineurin gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:736202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:20428114|PMID:21802176|PMID:21852022|PMID:25741868|PMID:26203661|PMID:28492532 8809105 Optn optineurin gene DOID:0060203 amyotrophic lateral sclerosis type 12 ISO RGD:736202 D RGD:7240710 20240221 OMIM 8809105 Optn optineurin gene DOID:0060203 amyotrophic lateral sclerosis type 12 ISO RGD:736202 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 PMID:11834836|PMID:11978762|PMID:12208142|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16358725|PMID:16619239|PMID:16885925|PMID:17122126|PMID:17293779|PMID:17359525|PMID:17389490|PMID:17615537|PMID:19096531|PMID:19145250|PMID:19172505|PMID:19672125|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21074290|PMID:21217154|PMID:21220178|PMID:21550138|PMID:21613650|PMID:21852022|PMID:22402017|PMID:22708870|PMID:22722621|PMID:22892313|PMID:22995991|PMID:23062601|PMID:25333069|PMID:25681989|PMID:25741868|PMID:25943890|PMID:26467025|PMID:26503823|PMID:26566915|PMID:27485216|PMID:28492532|PMID:29411640|PMID:29525178|PMID:29650794|PMID:31108397|PMID:31198474|PMID:31838784|PMID:32028661|PMID:32579787|PMID:32893042 8809105 Optn optineurin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8809105 Optn optineurin gene DOID:0080600 COVID-19 ISO RGD:736202 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8809105 Optn optineurin gene DOID:0081294 neuronal intranuclear inclusion disease ISO RGD:736202 D RGD:9068941 20200609 RGD protein:increased expression:neuron, nucleus PMID:22318854|REF_RGD_ID:6480499 8809105 Optn optineurin gene DOID:1067 open-angle glaucoma ISO RGD:736202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21059646|PMID:25096716 8809105 Optn optineurin gene DOID:1067 open-angle glaucoma ISO RGD:736202 D RGD:9068941 20200609 RGD PMID:11834836|REF_RGD_ID:1600995 8809105 Optn optineurin gene DOID:1067 open-angle glaucoma ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M98K (human) PMID:14627677|REF_RGD_ID:6480510 8809105 Optn optineurin gene DOID:1067 open-angle glaucoma no_association ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:missense mutations, SNP: :multiple PMID:19096531|REF_RGD_ID:6480513 8809105 Optn optineurin gene DOID:1067 open-angle glaucoma no_association ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M98K (human) PMID:16020311|REF_RGD_ID:6480509 8809105 Optn optineurin gene DOID:1070 primary open angle glaucoma ISO RGD:736202 D RGD:7240710 20240221 OMIM 8809105 Optn optineurin gene DOID:1070 primary open angle glaucoma ISO RGD:736202 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:11834836|PMID:11978762|PMID:12208142|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16358725|PMID:16619239|PMID:16885925|PMID:16972651|PMID:17122126|PMID:17293779|PMID:17359525|PMID:17389490|PMID:17576681|PMID:17615537|PMID:19096531|PMID:19145250|PMID:19172505|PMID:19672125|PMID:19710941|PMID:20388642|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21074290|PMID:21217154|PMID:21220178|PMID:21408173|PMID:21550138|PMID:21613650|PMID:21802176|PMID:21852022|PMID:22366792|PMID:22402017|PMID:22708870|PMID:22722621|PMID:22892313|PMID:22995991|PMID:23062601|PMID:23138764|PMID:23357852|PMID:23447461|PMID:24683533|PMID:24983867|PMID:25333069|PMID:25382069|PMID:25588603|PMID:25640679|PMID:25741868|PMID:25943890|PMID:26203661|PMID:26303227|PMID:26467025|PMID:26503823|PMID:26566915|PMID:26740678|PMID:27485216|PMID:27620379|PMID:28089114|PMID:28492532|PMID:28882891|PMID:29411640|PMID:29525178|PMID:29525180|PMID:29540704|PMID:29558868|PMID:29650794|PMID:29895397|PMID:30519240|PMID:30672142|PMID:30739198|PMID:31000212|PMID:31108397|PMID:31198474|PMID:31759189|PMID:31788332|PMID:31838784|PMID:32028661|PMID:32397312|PMID:32579787|PMID:32893042|PMID:33770234|PMID:35896380|PMID:36133075|PMID:36570531|PMID:9536098 8809105 Optn optineurin gene DOID:1070 primary open angle glaucoma no_association ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.T34T,E50K,M98K,R545Q, 691_692insAG, PMID:19172505|REF_RGD_ID:7775049 8809105 Optn optineurin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20240222 RGD DNA:polymorphism:exon:p.M98K(human) PMID:15226658|REF_RGD_ID:7775043 8809105 Optn optineurin gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20240222 RGD DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human) PMID:15557444|REF_RGD_ID:7775041 8809105 Optn optineurin gene DOID:12858 Huntington's disease ISO RGD:736202 D RGD:9068941 20200609 RGD protein:increased expression:neuron, nucleus PMID:22318854|REF_RGD_ID:6480499 8809105 Optn optineurin gene DOID:13544 low tension glaucoma ISO RGD:733470 D RGD:9068941 20220825 MouseDO 8809105 Optn optineurin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:SNPs:exon,introns: PMID:16148883|REF_RGD_ID:7771548 8809105 Optn optineurin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.M98K(human) PMID:15226658|REF_RGD_ID:7775043 8809105 Optn optineurin gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human) PMID:15557444|REF_RGD_ID:7775041 8809105 Optn optineurin gene DOID:13641 exfoliation syndrome no_association ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M98K (human) PMID:16020311|REF_RGD_ID:6480509 8809105 Optn optineurin gene DOID:13948 bladder neck obstruction ISO RGD:628886 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder: PMID:16361812|REF_RGD_ID:7775024 8809105 Optn optineurin gene DOID:14330 Parkinson's disease ISO RGD:628886 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra (rat) PMID:27473339|REF_RGD_ID:13432580 8809105 Optn optineurin gene DOID:1686 glaucoma susceptibility ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:SNP:intron: PMID:16148883|REF_RGD_ID:7771548 8809105 Optn optineurin gene DOID:224 transient cerebral ischemia ISO RGD:628886 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (rat) PMID:24235151|REF_RGD_ID:13434905 8809105 Optn optineurin gene DOID:231 motor neuron disease ISO RGD:736202 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:21613650|PMID:23138764|PMID:23447461|PMID:25382069|PMID:26467025|PMID:28089114|PMID:28492532|PMID:30672142|PMID:31000212|PMID:32028661|PMID:32397312|PMID:33770234|PMID:36133075|PMID:36570531 8809105 Optn optineurin gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8809105 Optn optineurin gene DOID:5408 Paget's disease of bone ISO RGD:736202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436471|PMID:21059646 8809105 Optn optineurin gene DOID:5408 Paget's disease of bone ISO RGD:736202 D RGD:9068941 20200609 RGD DNA:SNP: :rs1561570 (human) PMID:20436471|REF_RGD_ID:6480512 8809105 Optn optineurin gene DOID:576 proteinuria ISO RGD:628886 D RGD:9068941 20200609 RGD associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat) PMID:25096716|REF_RGD_ID:13434904 8809105 Optn optineurin gene DOID:630 genetic disease ISO RGD:736202 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11834836|PMID:12789137|PMID:12939304|PMID:14597044|PMID:15326130|PMID:16199547|PMID:16205626|PMID:16358725|PMID:16681888|PMID:17293779|PMID:17389490|PMID:17576681|PMID:17615537|PMID:19096531|PMID:19672125|PMID:20388642|PMID:20428114|PMID:21074290|PMID:21408173|PMID:21613650|PMID:21852022|PMID:22722621|PMID:22892313|PMID:23138764|PMID:23447461|PMID:25382069|PMID:25741868|PMID:25943890|PMID:26467025|PMID:26503823|PMID:28089114|PMID:28492532|PMID:28882891|PMID:29525178|PMID:29558868|PMID:30672142|PMID:30739198|PMID:31000212|PMID:31198474|PMID:32028661|PMID:32397312|PMID:32579787|PMID:33770234|PMID:36133075|PMID:36570531|PMID:9536098 8809105 Optn optineurin gene DOID:8466 retinal degeneration ISO RGD:733470 D RGD:9068941 20200609 RGD PMID:20388642|REF_RGD_ID:6480507 8809105 Optn optineurin gene DOID:891 progressive myoclonus epilepsy ISO RGD:736202 D RGD:9068941 20200609 RGD protein:increased expression:neuron, nucleus PMID:22318854|REF_RGD_ID:6480499 8809105 Optn optineurin gene DOID:9000930 Dental Pulp Exposure ISO RGD:628886 D RGD:9068941 20200609 RGD mRNA:increased expression:dental pulp (rat) PMID:16109995|REF_RGD_ID:7775038 8809105 Optn optineurin gene DOID:9001062 Normal Tension Glaucoma ISO RGD:736202 D RGD:7240710 20240221 OMIM 8809105 Optn optineurin gene DOID:9001062 Normal Tension Glaucoma ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma, normal tension, susceptibility to PMID:11834836|PMID:11978762|PMID:12208142|PMID:15761120|PMID:16619239|PMID:25741868|PMID:28492532 8809105 Optn optineurin gene DOID:9001600 Wounds and Injuries ISO RGD:628886 D RGD:9068941 20200609 RGD PMID:16109995|REF_RGD_ID:7775038 8809105 Optn optineurin gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:736202 D RGD:9068941 20200609 RGD PMID:21360076|REF_RGD_ID:6480505 8809105 Optn optineurin gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:736202 D RGD:9068941 20200609 RGD protein:increased expression:neuron, nucleus PMID:22318854|REF_RGD_ID:6480499 8809105 Optn optineurin gene DOID:9007708 Glaucoma 1, Open Angle, E ISO RGD:736202 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, E | ClinVar Annotator: match by term: Glaucoma 1, open angle, e PMID:11834836|PMID:11978762|PMID:12208142|PMID:12939304|PMID:14597044|PMID:15226658|PMID:15312511|PMID:15326130|PMID:15370540|PMID:15547491|PMID:15557444|PMID:15761120|PMID:16148883|PMID:16199547|PMID:16205626|PMID:16619239|PMID:16885925|PMID:17293779|PMID:17359525|PMID:17389490|PMID:19145250|PMID:19172505|PMID:19672125|PMID:20428114|PMID:20671613|PMID:20981092|PMID:21217154|PMID:21220178|PMID:22402017|PMID:22708870|PMID:22722621|PMID:22995991|PMID:23062601|PMID:24683533|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26566915|PMID:26740678|PMID:27485216|PMID:28492532|PMID:29411640|PMID:29525178|PMID:30519240|PMID:30739198|PMID:31108397|PMID:31198474 8809105 Optn optineurin gene DOID:9009017 Amyotrophic Lateral Sclerosis, Autosomal Recessive ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive 8809105 Optn optineurin gene DOID:9255 frontotemporal dementia ISO RGD:736202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 8809146 Ip6k3 inositol hexakisphosphate kinase 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8809146 Ip6k3 inositol hexakisphosphate kinase 3 gene DOID:630 genetic disease ISO RGD:1350328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809166 Slc25a5 solute carrier family 25 member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8809166 Slc25a5 solute carrier family 25 member 5 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:732042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8809166 Slc25a5 solute carrier family 25 member 5 gene DOID:12849 autistic disorder ISO RGD:732042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8809166 Slc25a5 solute carrier family 25 member 5 gene DOID:630 genetic disease ISO RGD:732042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809183 Eml2 EMAP like 2 gene DOID:630 genetic disease ISO RGD:734198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809209 Nsfl1c NSFL1 cofactor gene DOID:630 genetic disease ISO RGD:734170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809233 Zmym1 zinc finger MYM-type containing 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8809233 Zmym1 zinc finger MYM-type containing 1 gene DOID:630 genetic disease ISO RGD:1315977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809253 Prr14 proline rich 14 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8809253 Prr14 proline rich 14 gene DOID:630 genetic disease ISO RGD:1604599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809276 Ylpm1 YLP motif containing 1 gene DOID:1059 intellectual disability ISO RGD:1351286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8809276 Ylpm1 YLP motif containing 1 gene DOID:2661 myoepithelioma ISO RGD:1351286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8809276 Ylpm1 YLP motif containing 1 gene DOID:630 genetic disease ISO RGD:1351286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809302 B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8809302 B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:0110255 cataract 5 multiple types ISO RGD:1603192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8809302 B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:630 genetic disease ISO RGD:1603192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809302 B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 gene DOID:7148 rheumatoid arthritis ISO RGD:1603192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 8809307 Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:1316884 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 PMID:12702580|PMID:17656264|PMID:22290698|PMID:25741868|PMID:25927356|PMID:28492532|PMID:32984025 8809307 Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1316884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8809307 Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:2871 endometrial carcinoma ISO RGD:1316884 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12702580|PMID:17656264|PMID:22290698|PMID:25741868|PMID:28492532 8809307 Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1316884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809307 Arel1 apoptosis resistant E3 ubiquitin protein ligase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316884 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12702580|PMID:17656264|PMID:22290698|PMID:25741868|PMID:25927356|PMID:28492532|PMID:32984025 8809338 Lmo1 LIM domain only 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1352109 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:2034676|PMID:3259177 8809338 Lmo1 LIM domain only 1 gene DOID:630 genetic disease ISO RGD:1352109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050545 visceral heterotaxy ISO RGD:1331854 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27854218|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29165578|PMID:29620724|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31618753|PMID:31680349|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:34182252|PMID:34906502|PMID:8253763|PMID:9536098 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050777 Joubert syndrome ISO RGD:2289739 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23351400|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:27081510|PMID:27082236|PMID:27959436|PMID:28125082|PMID:28492532|PMID:31618753|PMID:31964843|PMID:32488064|PMID:34194672|PMID:3631907 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0050778 Meckel syndrome ISO RGD:2289739 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:16199547|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23351400|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:27081510|PMID:27082236|PMID:27959436|PMID:28125082|PMID:28492532|PMID:31618753|PMID:31964843|PMID:32488064|PMID:34194672|PMID:3631907 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0060340 ciliopathy ISO RGD:2289739 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:25741868|PMID:28492532 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0060668 anencephaly ISO RGD:2289739 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anencephaly PMID:16199547|PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0070115 Meckel syndrome 1 ISO RGD:2289739 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23351400|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:27081510|PMID:27082236|PMID:27959436|PMID:28125082|PMID:28492532|PMID:31618753|PMID:32488064|PMID:34194672|PMID:3631907 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0070115 Meckel syndrome 1 ISO RGD:2289739 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23351400|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:27081510|PMID:27082236|PMID:27959436|PMID:28125082|PMID:28492532|PMID:31618753|PMID:31964843|PMID:32488064|PMID:34194672|PMID:3631907 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0070120 Meckel syndrome 6 ISO RGD:2289739 D RGD:7240710 20180130 OMIM 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0070120 Meckel syndrome 6 ISO RGD:2289739 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22995991|PMID:23351400|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29039169|PMID:29987673|PMID:30202406|PMID:31130284|PMID:32165824|PMID:32488064|PMID:33486889|PMID:34645488|PMID:8253763|PMID:9536098 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:28492532|PMID:29165578|PMID:29620724|PMID:30267408|PMID:31680349|PMID:32165824|PMID:32488064|PMID:34906502|PMID:8253763|PMID:9536098 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:22995991|PMID:23012439|PMID:24033266|PMID:24360807|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26485645|PMID:27081510|PMID:27082236|PMID:28492532|PMID:29165578 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:30055837|PMID:30091983|PMID:30267408|PMID:31618753|PMID:31680349|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:34182252|PMID:34194672|PMID:34906502|PMID:8253763|PMID:9536098 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:2289739 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:18513680|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19763152|PMID:19777577|PMID:20307669|PMID:21068128|PMID:21370303|PMID:21866095|PMID:22241855|PMID:22246503|PMID:22406018|PMID:22425360|PMID:22995991|PMID:23012439|PMID:23351400|PMID:23692786|PMID:24033266|PMID:24360807|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26062849|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26633542|PMID:26673778|PMID:26729329|PMID:26862157|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28518168|PMID:29039169|PMID:29146704|PMID:29620724|PMID:29987673|PMID:30055837|PMID:30091983|PMID:30202406|PMID:30267408|PMID:31130284|PMID:31577543|PMID:31618753|PMID:31680349|PMID:31738409|PMID:31964843|PMID:32165824|PMID:32461654|PMID:32488064|PMID:33486889|PMID:33502066|PMID:34182252|PMID:34194672|PMID:34645488|PMID:34821546|PMID:34906502|PMID:35858853|PMID:3631907|PMID:8253763|PMID:9536098 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 ISO RGD:2289739 D RGD:7240710 20180130 OMIM 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 ISO RGD:2289739 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic PMID:16199547|PMID:17576681|PMID:18387594|PMID:18414213|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:21068128|PMID:21370303|PMID:22241855|PMID:22246503|PMID:22425360|PMID:23012439|PMID:23692786|PMID:24033266|PMID:24706459|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26310553|PMID:26467025|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:27848944|PMID:27894351|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29146704|PMID:29620724|PMID:30055837|PMID:30091983|PMID:31618753|PMID:32488064|PMID:33502066|PMID:34645488|PMID:34906502|PMID:3631907|PMID:8253763|PMID:9536098 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:0111004 Joubert syndrome 9 no_association ISO RGD:2289739 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:22241855|REF_RGD_ID:11062645 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:1059 intellectual disability ISO RGD:2289739 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:1059 intellectual disability no_association ISO RGD:2289739 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs7664843, rs1861044 (human) PMID:22023432|REF_RGD_ID:11535973 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:10907 microcephaly ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:1148 polydactyly ISO RGD:2289739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:11836 clubfoot ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:16199547|PMID:19466712|PMID:19777577|PMID:25741868|PMID:26092869|PMID:28492532 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:12712 nephronophthisis ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:630 genetic disease ISO RGD:2289739 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:27959436|PMID:28125082|PMID:28492532|PMID:28518168|PMID:31618753|PMID:31738409|PMID:32165824|PMID:32461654|PMID:32488064|PMID:3631907|PMID:8253763|PMID:9536098 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:8501 fundus dystrophy ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19777577|PMID:25741868|PMID:28492532 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9000639 COACH Syndrome 1 ISO RGD:2289739 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:18414213|PMID:18950740|PMID:19777577|PMID:21068128|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:24706459|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:26729329|PMID:27081510|PMID:27082236|PMID:28492532|PMID:28518168|PMID:29620724|PMID:32461654 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9000983 Encephalocele ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalocele PMID:19777577|PMID:25741868|PMID:26862157|PMID:28492532|PMID:31680349 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9001186 Retinitis Pigmentosa 93 ISO RGD:2289739 D RGD:7240710 20220427 OMIM 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9001186 Retinitis Pigmentosa 93 ISO RGD:2289739 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 93 PMID:25741868|PMID:28492532|PMID:30267408 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:2289739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2289739 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:19777577|PMID:22241855|PMID:22425360|PMID:23012439|PMID:24033266|PMID:25741868|PMID:26092869|PMID:26477546|PMID:26485645|PMID:26673778|PMID:28492532 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9006277 COACH Syndrome 2 ISO RGD:2289739 D RGD:7240710 20201223 OMIM 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9006277 COACH Syndrome 2 ISO RGD:2289739 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: COACH syndrome 2 PMID:18950740|PMID:19466712|PMID:19574260|PMID:19777577|PMID:22241855|PMID:22246503|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:32488064 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2289739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8809352 Cc2d2a coiled-coil and C2 domain containing 2A gene DOID:936 brain disease ISO RGD:2289739 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8809409 Jhy junctional cadherin complex regulator gene DOID:5419 schizophrenia ISO RGD:1605626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8809409 Jhy junctional cadherin complex regulator gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8809409 Jhy junctional cadherin complex regulator gene DOID:9007661 Dwarfism ISO RGD:1605626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8809433 Fam124b family with sequence similarity 124 member B gene DOID:630 genetic disease ISO RGD:1602681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809433 Fam124b family with sequence similarity 124 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8809440 Prelid2 PRELI domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606141 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8809440 Prelid2 PRELI domain containing 2 gene DOID:630 genetic disease ISO RGD:1606141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809440 Prelid2 PRELI domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8809440 Prelid2 PRELI domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8809440 Prelid2 PRELI domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606141 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8809451 Ctnnd1 catenin delta 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1313793 D RGD:9068941 20200609 RGD PMID:26464646|REF_RGD_ID:11526681 8809451 Ctnnd1 catenin delta 1 gene DOID:0080346 blepharocheilodontic syndrome 2 ISO RGD:1313793 D RGD:7240710 20190315 OMIM 8809451 Ctnnd1 catenin delta 1 gene DOID:0080346 blepharocheilodontic syndrome 2 ISO RGD:1313793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 PMID:25741868|PMID:28301459|PMID:29805042 8809451 Ctnnd1 catenin delta 1 gene DOID:0080600 COVID-19 ISO RGD:1313793 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8809451 Ctnnd1 catenin delta 1 gene DOID:1059 intellectual disability ISO RGD:1313793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe 8809451 Ctnnd1 catenin delta 1 gene DOID:630 genetic disease ISO RGD:1313793 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8809451 Ctnnd1 catenin delta 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:1305643 D RGD:9068941 20200924 RGD PMID:25593290|REF_RGD_ID:38500244 8809451 Ctnnd1 catenin delta 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1313793 D RGD:9068941 20200924 RGD protein:decreased expression:lung PMID:25593290|REF_RGD_ID:38500244 8809451 Ctnnd1 catenin delta 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:1305643 D RGD:9068941 20200924 RGD PMID:25593290|REF_RGD_ID:38500244 8809451 Ctnnd1 catenin delta 1 gene DOID:9296 cleft lip ISO RGD:1313793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:25741868|PMID:29805042 8809508 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:35351988 8809508 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1354195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 8809508 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8809508 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8809508 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1354195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8809508 Lrch2 leucine rich repeats and calponin homology domain containing 2 gene DOID:630 genetic disease ISO RGD:1354195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809551 Rrp36 ribosomal RNA processing 36 gene DOID:0050444 infantile Refsum disease ISO RGD:1317478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8809551 Rrp36 ribosomal RNA processing 36 gene DOID:630 genetic disease ISO RGD:1317478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809551 Rrp36 ribosomal RNA processing 36 gene DOID:905 Zellweger syndrome ISO RGD:1317478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8809579 Tpd52l2 TPD52 like 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8809579 Tpd52l2 TPD52 like 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8809579 Tpd52l2 TPD52 like 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1352243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8809579 Tpd52l2 TPD52 like 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1352243 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8809579 Tpd52l2 TPD52 like 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8809579 Tpd52l2 TPD52 like 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8809579 Tpd52l2 TPD52 like 2 gene DOID:630 genetic disease ISO RGD:1352243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346147 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:0110913 adult hypophosphatasia ISO RGD:1346147 D RGD:7240710 20180130 OMIM 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:0110913 adult hypophosphatasia ISO RGD:1346147 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10636450|PMID:10679946|PMID:10839996|PMID:10872988|PMID:11395499|PMID:11438998|PMID:11479741|PMID:11547844|PMID:11745997|PMID:11760847|PMID:11802776|PMID:11834095|PMID:11855933|PMID:11999978|PMID:12162492|PMID:12357339|PMID:12412800|PMID:12638946|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15137467|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:15794757|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17576681|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18422967|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20089612|PMID:20383509|PMID:20739387|PMID:20924064|PMID:21168482|PMID:21228398|PMID:21342251|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22322541|PMID:22394703|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:23454488|PMID:23509830|PMID:23688511|PMID:23791648|PMID:23926372|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24145968|PMID:24276437|PMID:24334170|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25100374|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26219717|PMID:26272126|PMID:26432670|PMID:26459154|PMID:26467025|PMID:26783040|PMID:26823351|PMID:26896157|PMID:27179278|PMID:27312557|PMID:27507156|PMID:27699270|PMID:27777120|PMID:27884173|PMID:27920814|PMID:27998428|PMID:28000043|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28586049|PMID:28663156|PMID:28749478|PMID:28763161|PMID:28802630|PMID:28881669|PMID:29159075|PMID:29160033|PMID:29236161|PMID:29354166|PMID:29620724|PMID:29724887|PMID:29774402|PMID:30049651|PMID:30138938|PMID:30202780|PMID:30249491|PMID:30283912|PMID:30293248|PMID:30446691|PMID:30555565|PMID:30576866|PMID:30719581|PMID:30788858|PMID:30864637|PMID:30979366|PMID:31077853|PMID:31088113|PMID:31146036|PMID:31400546|PMID:31600233|PMID:31641588|PMID:31707452|PMID:3174660|PMID:31760938|PMID:31787692|PMID:31793067|PMID:31857675|PMID:31905439|PMID:32066479|PMID:32112990|PMID:32160374|PMID:32200022|PMID:32390219|PMID:32803091|PMID:32811521|PMID:32973344|PMID:32981126|PMID:32987199|PMID:33069919|PMID:33191482|PMID:33240318|PMID:33452237|PMID:33549410|PMID:33579333|PMID:33601892|PMID:33814268|PMID:33827627|PMID:33977024|PMID:34000433|PMID:34154874|PMID:34213743|PMID:34515659|PMID:34627339|PMID:34633109|PMID:34662886|PMID:34712267|PMID:34935951|PMID:35241128|PMID:35320273|PMID:36361766|PMID:36444396|PMID:37422472|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9536098|PMID:9562633|PMID:9618260|PMID:9781036|PMID:9814472|PMID:9844100 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:0110914 infantile hypophosphatasia ISO RGD:1346147 D RGD:7240710 20180130 OMIM 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:0110914 infantile hypophosphatasia ISO RGD:1346147 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10679946|PMID:10834525|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11745997|PMID:11760847|PMID:11810413|PMID:11855933|PMID:11999978|PMID:12162492|PMID:12230456|PMID:12357339|PMID:12412800|PMID:12638946|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15137467|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:15794757|PMID:15840803|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20089612|PMID:20383509|PMID:20739387|PMID:20924064|PMID:21168482|PMID:21228398|PMID:21342251|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22322541|PMID:22394703|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:23454488|PMID:23509830|PMID:23580367|PMID:23688511|PMID:23926372|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24145968|PMID:24276437|PMID:24334170|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26459154|PMID:26467025|PMID:26783040|PMID:27179278|PMID:27312557|PMID:27507156|PMID:27699270|PMID:27884173|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:28749478|PMID:28763161|PMID:28802630|PMID:28881669|PMID:28939177|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:29760218|PMID:30049651|PMID:30249491|PMID:30283912|PMID:30293248|PMID:30576866|PMID:30755392|PMID:30979366|PMID:31088113|PMID:31400546|PMID:31600233|PMID:31641588|PMID:31707452|PMID:3174660|PMID:31760938|PMID:31787692|PMID:31793067|PMID:31857675|PMID:31905439|PMID:32066479|PMID:32112990|PMID:32160374|PMID:32390219|PMID:32803091|PMID:32811521|PMID:32973344|PMID:33191482|PMID:33240318|PMID:33452237|PMID:33549410|PMID:33601892|PMID:33814268|PMID:33977024|PMID:34000433|PMID:34213743|PMID:34515659|PMID:34627339|PMID:34633109|PMID:34662886|PMID:34712267|PMID:35320273|PMID:36444396|PMID:37422472|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9562633|PMID:9618260|PMID:9781036|PMID:9814472|PMID:9844100 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:0110915 childhood hypophosphatasia ISO RGD:1346147 D RGD:7240710 20180130 OMIM 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:0110915 childhood hypophosphatasia ISO RGD:1346147 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Childhood hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10679946|PMID:10839996|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15671102|PMID:15694177|PMID:16583935|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17719863|PMID:17922851|PMID:18340466|PMID:18559907|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21168482|PMID:21228398|PMID:21713987|PMID:21956185|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27179278|PMID:27507156|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:28749478|PMID:28763161|PMID:28881669|PMID:29236161|PMID:29724887|PMID:30249491|PMID:30283912|PMID:30576866|PMID:30719581|PMID:30979366|PMID:31088113|PMID:31641588|PMID:31707452|PMID:3174660|PMID:32160374|PMID:32803091|PMID:32973344|PMID:33549410|PMID:33814268|PMID:33977024|PMID:34000433|PMID:34213743|PMID:34515659|PMID:34627339|PMID:34662886|PMID:34712267|PMID:36444396|PMID:7833929|PMID:8675582 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:10907 microcephaly ISO RGD:1346147 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11760847|PMID:12162492|PMID:18455459|PMID:18769927|PMID:18821074|PMID:25023282|PMID:25741868|PMID:28492532|PMID:30293248|PMID:31857675|PMID:32160374|PMID:33452237|PMID:9452105 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:11476 osteoporosis ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:10679946|PMID:19500388|PMID:25741868|PMID:28492532|PMID:29236161|PMID:3174660|PMID:32973344 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:12347 osteogenesis imperfecta ISO RGD:1346147 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10094560|PMID:10332035|PMID:10679946|PMID:10839996|PMID:11438998|PMID:11479741|PMID:11855933|PMID:12357339|PMID:12412800|PMID:12638946|PMID:1409720|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16769381|PMID:17229666|PMID:17253930|PMID:17719863|PMID:18523927|PMID:18559907|PMID:18769927|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21228398|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22913777|PMID:22995991|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:29159075|PMID:29236161|PMID:29354166|PMID:30283912|PMID:30576866|PMID:31707452|PMID:32066479|PMID:32160374|PMID:8406453|PMID:8954059|PMID:9618260|PMID:9781036|PMID:9814472 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:12347 osteogenesis imperfecta ISO RGD:1346147 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10094560|PMID:10332035|PMID:10679946|PMID:10839996|PMID:11395499|PMID:11438998|PMID:11479741|PMID:11855933|PMID:12357339|PMID:12412800|PMID:12638946|PMID:1409720|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:16769381|PMID:17229666|PMID:17253930|PMID:17719863|PMID:18523927|PMID:18559907|PMID:18769927|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20089612|PMID:20739387|PMID:21228398|PMID:21956185|PMID:22014174|PMID:22397652|PMID:22913777|PMID:22995991|PMID:23791648|PMID:24022022|PMID:24033266|PMID:24276437|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26272126|PMID:26432670|PMID:26467025|PMID:26783040|PMID:27884173|PMID:27920814|PMID:28127875|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28663156|PMID:29159075|PMID:29236161|PMID:29354166|PMID:30049651|PMID:30138938|PMID:30283912|PMID:30576866|PMID:30719581|PMID:31600233|PMID:31641588|PMID:31707452|PMID:32066479|PMID:32160374|PMID:32803091|PMID:32973344|PMID:33549410|PMID:33814268|PMID:34515659|PMID:34627339|PMID:34662886|PMID:36444396|PMID:8406453|PMID:8954059|PMID:9618260|PMID:9781036|PMID:9814472 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:12466 secondary hyperparathyroidism ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22373954 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:13809 familial combined hyperlipidemia ISO RGD:1346147 D RGD:9068941 20200609 RGD PMID:16336518|REF_RGD_ID:1601173 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:14213 hypophosphatasia ISO RGD:1346147 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:10094560|PMID:10332035|PMID:10508980|PMID:10636450|PMID:10679946|PMID:10839996|PMID:10872988|PMID:11395499|PMID:11438998|PMID:11479741|PMID:11547844|PMID:11745997|PMID:11760847|PMID:11802776|PMID:11834095|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12412800|PMID:12638946|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15135428|PMID:15137467|PMID:15300736|PMID:15660230|PMID:15671102|PMID:15694177|PMID:15794757|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17212778|PMID:17213282|PMID:17229666|PMID:17253930|PMID:17576681|PMID:17719863|PMID:17916236|PMID:17922851|PMID:18328985|PMID:18340466|PMID:18455459|PMID:18523927|PMID:18559907|PMID:18769927|PMID:18818947|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19335222|PMID:19500388|PMID:20049532|PMID:20089612|PMID:20383509|PMID:20739387|PMID:20924064|PMID:21168482|PMID:21228398|PMID:21342251|PMID:21713987|PMID:21956185|PMID:22014174|PMID:22322541|PMID:22394703|PMID:22397652|PMID:22781519|PMID:22913777|PMID:22995991|PMID:23454488|PMID:23509830|PMID:23688511|PMID:23791648|PMID:23926372|PMID:24022022|PMID:24033266|PMID:24100244|PMID:24276437|PMID:24334170|PMID:24378058|PMID:24569605|PMID:25023282|PMID:25716980|PMID:25731960|PMID:25736332|PMID:25741868|PMID:26219717|PMID:26272126|PMID:26432670|PMID:26432671|PMID:26459154|PMID:26467025|PMID:26783040|PMID:26823351|PMID:26896157|PMID:27179278|PMID:27507156|PMID:27699270|PMID:27777120|PMID:27884173|PMID:27920814|PMID:27998428|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492530|PMID:28492532|PMID:28506345|PMID:28580391|PMID:28586049|PMID:28663156|PMID:28749478|PMID:28763161|PMID:28802630|PMID:28881669|PMID:29159075|PMID:29236161|PMID:29354166|PMID:29724887|PMID:29760218|PMID:30049651|PMID:30138938|PMID:30202780|PMID:30249491|PMID:30283912|PMID:30293248|PMID:30576866|PMID:30655187|PMID:30719581|PMID:30755392|PMID:30788858|PMID:30864637|PMID:30979366|PMID:31077853|PMID:31088113|PMID:31146036|PMID:31400546|PMID:31485555|PMID:31600233|PMID:31641588|PMID:31707452|PMID:3174660|PMID:31760938|PMID:31787692|PMID:31793067|PMID:31857675|PMID:31905439|PMID:32066479|PMID:32112990|PMID:32160374|PMID:32200022|PMID:32572521|PMID:32803091|PMID:32811521|PMID:32879991|PMID:32973344|PMID:32981126|PMID:32987199|PMID:33069919|PMID:33101980|PMID:33191482|PMID:33240318|PMID:33404770|PMID:33452237|PMID:33549410|PMID:33579333|PMID:33601892|PMID:33814268|PMID:33821301|PMID:33827627|PMID:33977024|PMID:34000433|PMID:34213743|PMID:34258332|PMID:34515659|PMID:34627339|PMID:34633109|PMID:34662886|PMID:34712267|PMID:34924504|PMID:34935951|PMID:35241128|PMID:35320273|PMID:36361766|PMID:36444396|PMID:36514157|PMID:37422472|PMID:7833929|PMID:8406453|PMID:8675582|PMID:8954059|PMID:9452105|PMID:9536098|PMID:9562633|PMID:9618260|PMID:9781036|PMID:9814472|PMID:9844100 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:14213 hypophosphatasia susceptibility ISO RGD:1346147 D RGD:9068941 20200609 RGD PMID:8406453|REF_RGD_ID:1599076 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:182 calcinosis ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21193197 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:2256 osteochondrodysplasia ISO RGD:1346147 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10679946|PMID:19500388|PMID:24100244|PMID:25741868|PMID:28492532|PMID:30755392|PMID:3174660|PMID:32973344|PMID:33814268 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:2349 arteriosclerosis ISO RGD:1346147 D RGD:9068941 20200609 RGD protein:decrease expression:serum PMID:17010978|REF_RGD_ID:1601172 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:409 liver disease ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:4676 uremia ISO RGD:2100 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:18288101|REF_RGD_ID:2315619 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:630 genetic disease ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10332035|PMID:10679946|PMID:11438998|PMID:11479741|PMID:11760847|PMID:11855933|PMID:11999978|PMID:12162492|PMID:12357339|PMID:1409720|PMID:15671102|PMID:15694177|PMID:16199547|PMID:16583935|PMID:16769381|PMID:17253930|PMID:17719863|PMID:18455459|PMID:18769927|PMID:18821074|PMID:18925618|PMID:19232125|PMID:19500388|PMID:20739387|PMID:20924064|PMID:21956185|PMID:22014174|PMID:23791648|PMID:24276437|PMID:24569605|PMID:25023282|PMID:25731960|PMID:25741868|PMID:26432670|PMID:26432671|PMID:26467025|PMID:28127875|PMID:28401263|PMID:28436937|PMID:28492532|PMID:29236161|PMID:29620724|PMID:30049651|PMID:30293248|PMID:31600233|PMID:3174660|PMID:31793067|PMID:31857675|PMID:32160374|PMID:32811521|PMID:32973344|PMID:33191482|PMID:33452237|PMID:33549410|PMID:33579333|PMID:33814268|PMID:33977024|PMID:9452105|PMID:9781036 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:65 connective tissue disease ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:8719 in situ carcinoma ISO RGD:1346147 D RGD:9068941 20200609 RGD associated with Testicular Neoplasms;protein:increased expression:testis PMID:10547581|REF_RGD_ID:2315616 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1346147 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:10547581|REF_RGD_ID:2315616 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9000808 Hypercholesterolemia ISO RGD:2100 D RGD:9068941 20200609 RGD PMID:17403193|REF_RGD_ID:1601171 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9000927 Alveolar Bone Loss ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20630305 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:2100 D RGD:9068941 20230720 RGD associated with hypertension, periodontal disease PMID:33364953|REF_RGD_ID:329956421 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9001292 Odontohypophosphatasia ISO RGD:1346147 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Low alkaline phosphatase | ClinVar Annotator: match by term: Odontohypophosphatasia PMID:10094560|PMID:10332035|PMID:10679946|PMID:10872988|PMID:11438998|PMID:11479741|PMID:11760847|PMID:11855933|PMID:12162492|PMID:12357339|PMID:12815606|PMID:12920074|PMID:1409720|PMID:15671102|PMID:17576681|PMID:17719863|PMID:18340466|PMID:18455459|PMID:19232125|PMID:19500388|PMID:20739387|PMID:21168482|PMID:24569605|PMID:25716980|PMID:25731960|PMID:25741868|PMID:28492532|PMID:28663156|PMID:29236161|PMID:29774402|PMID:30719581|PMID:31600233|PMID:31641588|PMID:32160374|PMID:32973344|PMID:32987199|PMID:33549410|PMID:33814268|PMID:8675582|PMID:9452105|PMID:9536098 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9002202 Opsismodysplasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed skeletal maturation PMID:10332035|PMID:10679946|PMID:11438998|PMID:11855933|PMID:12357339|PMID:1409720|PMID:15671102|PMID:17719863|PMID:19232125|PMID:19500388|PMID:20739387|PMID:24569605|PMID:25731960|PMID:25741868|PMID:28492532|PMID:29236161|PMID:32160374|PMID:32973344|PMID:33549410 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773408 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9003004 MICROMELIA ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Micromelia PMID:25741868|PMID:28492532|PMID:29160033|PMID:31146036 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9004649 Heat Stroke ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16878031 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9004919 Perinatal Lethal Hypophosphatasia ISO RGD:1346147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perinatal lethal hypophosphatasia PMID:10679946|PMID:11745997|PMID:16199547|PMID:18925618|PMID:19232125|PMID:19500388|PMID:23454488|PMID:23688511|PMID:25731960|PMID:25741868|PMID:26467025|PMID:27699270|PMID:27998428|PMID:28401263|PMID:28436937|PMID:28492532|PMID:29236161|PMID:31400546|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33601892|PMID:33814268|PMID:9781036 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9006205 Animal Disease Models ISO RGD:1346147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1346147 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16249437|REF_RGD_ID:1601174 8809632 Alpl alkaline phosphatase, biomineralization associated gene DOID:9452 steatotic liver disease ISO RGD:1346147 D RGD:9068941 20200609 RGD associated with obesity PMID:16197789|REF_RGD_ID:1601177 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:10283 prostate cancer ISO RGD:733485 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (human) PMID:19401687|REF_RGD_ID:10054425 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:10300 Raynaud disease ISO RGD:733485 D RGD:9068941 20221007 RGD PMID:25172934|REF_RGD_ID:155260370 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:1059 intellectual disability ISO RGD:733485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733486 D RGD:9068941 20200609 RGD protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse) PMID:19323997|REF_RGD_ID:10058964 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:630 genetic disease ISO RGD:733485 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26173930|PMID:36130591 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9000612 Cardiac Allograft Vasculopathy ISO RGD:733485 D RGD:9068941 20221007 RGD PMID:21489814|REF_RGD_ID:155260371 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9002234 Pituitary Neoplasms ISO RGD:71058 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland (rat) PMID:12716410|REF_RGD_ID:10058970 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:733486 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (mouse) PMID:22015967|REF_RGD_ID:10054424 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9003837 Au-Kline Syndrome ISO RGD:733485 D RGD:7240710 20180130 OMIM 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9003837 Au-Kline Syndrome ISO RGD:733485 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Au-Kline syndrome PMID:18414213|PMID:25741868|PMID:26173930|PMID:26220823|PMID:26954065|PMID:28374925|PMID:28771707|PMID:29904177|PMID:30793470|PMID:30998304|PMID:32222014|PMID:36130591 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9005603 Muscle Hypotonia ISO RGD:733485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:71058 D RGD:9068941 20200609 RGD PMID:16837467|REF_RGD_ID:10002795 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9005775 Perinatal Asphyxia treatment ISO RGD:71058 D RGD:9068941 20221013 RGD PMID:33951501|REF_RGD_ID:155269042 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9008939 Breast Neoplasms ISO RGD:733485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:9256 colorectal cancer severity ISO RGD:733485 D RGD:9068941 20200609 RGD protein:increased expression:colonic epithelium, cytoplasm (human) PMID:21194727|REF_RGD_ID:9999439 8809666 Hnrnpk heterogeneous nuclear ribonucleoprotein K gene DOID:936 brain disease ISO RGD:733485 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8809700 Tspan12 tetraspanin 12 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1322379 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:25250762|PMID:25741868|PMID:28041643|PMID:28492532 8809700 Tspan12 tetraspanin 12 gene DOID:0060844 Norrie disease ISO RGD:1322379 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:25250762 8809700 Tspan12 tetraspanin 12 gene DOID:0111408 exudative vitreoretinopathy 5 ISO RGD:1322379 D RGD:7240710 20180130 OMIM 8809700 Tspan12 tetraspanin 12 gene DOID:0111408 exudative vitreoretinopathy 5 ISO RGD:1322379 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 5 | ClinVar Annotator: match by term: TSPAN12-related condition PMID:15665352|PMID:20159111|PMID:20159112|PMID:21334594|PMID:21552475|PMID:22427576|PMID:25250762|PMID:25352738|PMID:25741868|PMID:28002565|PMID:28041643|PMID:28492532|PMID:28494495|PMID:31106028|PMID:31987760|PMID:34738848 8809700 Tspan12 tetraspanin 12 gene DOID:308 early myoclonic encephalopathy ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532 8809700 Tspan12 tetraspanin 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8809700 Tspan12 tetraspanin 12 gene DOID:630 genetic disease ISO RGD:1322379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8809700 Tspan12 tetraspanin 12 gene DOID:8501 fundus dystrophy ISO RGD:1322379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:20159112|PMID:21334594|PMID:28492532|PMID:9536098 8809700 Tspan12 tetraspanin 12 gene DOID:9002174 Disease Susceptibility ISO RGD:1322379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20130021 8809700 Tspan12 tetraspanin 12 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1322379 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive PMID:25250762 8809712 Sfmbt2 Scm like with four mbt domains 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1312812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8809712 Sfmbt2 Scm like with four mbt domains 2 gene DOID:630 genetic disease ISO RGD:1312812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809741 Grin3a glutamate ionotropic receptor NMDA type subunit 3A gene DOID:1059 intellectual disability ISO RGD:733376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8809741 Grin3a glutamate ionotropic receptor NMDA type subunit 3A gene DOID:1875 impotence ISO RGD:733376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 8809741 Grin3a glutamate ionotropic receptor NMDA type subunit 3A gene DOID:2661 myoepithelioma ISO RGD:733376 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8809741 Grin3a glutamate ionotropic receptor NMDA type subunit 3A gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:733376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 8809741 Grin3a glutamate ionotropic receptor NMDA type subunit 3A gene DOID:630 genetic disease ISO RGD:733376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809741 Grin3a glutamate ionotropic receptor NMDA type subunit 3A gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:733376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 8809753 Glipr2 GLI pathogenesis related 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8809753 Glipr2 GLI pathogenesis related 2 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1316497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8809753 Glipr2 GLI pathogenesis related 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8809753 Glipr2 GLI pathogenesis related 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1316497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8809753 Glipr2 GLI pathogenesis related 2 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1316497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8809753 Glipr2 GLI pathogenesis related 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8809753 Glipr2 GLI pathogenesis related 2 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1316497 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 8809753 Glipr2 GLI pathogenesis related 2 gene DOID:630 genetic disease ISO RGD:1316497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809753 Glipr2 GLI pathogenesis related 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316497 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8809753 Glipr2 GLI pathogenesis related 2 gene DOID:9870 galactosemia ISO RGD:1316497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8809766 Syndig1 synapse differentiation inducing 1 gene DOID:630 genetic disease ISO RGD:1321842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809774 Gstm4 glutathione S-transferase mu 4 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8809774 Gstm4 glutathione S-transferase mu 4 gene DOID:12849 autistic disorder ISO RGD:1606334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8809774 Gstm4 glutathione S-transferase mu 4 gene DOID:1289 neurodegenerative disease ISO RGD:1606334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 8809774 Gstm4 glutathione S-transferase mu 4 gene DOID:630 genetic disease ISO RGD:1606334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809774 Gstm4 glutathione S-transferase mu 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8809790 Nxnl1 nucleoredoxin like 1 gene DOID:630 genetic disease ISO RGD:1350601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809794 Secisbp2l SECIS binding protein 2 like gene DOID:2717 Bloom syndrome ISO RGD:1605418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8809794 Secisbp2l SECIS binding protein 2 like gene DOID:630 genetic disease ISO RGD:1605418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809794 Secisbp2l SECIS binding protein 2 like gene DOID:9005172 Lung Neoplasms ISO RGD:1605418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 8809794 Secisbp2l SECIS binding protein 2 like gene DOID:9256 colorectal cancer ISO RGD:1605418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1353040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:0060180 colitis treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:23840258|REF_RGD_ID:13792680 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ISO RGD:1353040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Decreased activity of mitochondrial ATP synthase complex PMID:29478781 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 ISO RGD:1353040 D RGD:7240710 20190315 OMIM 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 ISO RGD:1353040 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 PMID:25741868|PMID:28492532|PMID:29478781 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:10652 Alzheimer's disease ISO RGD:1353040 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:11054 urinary bladder cancer ISO RGD:1353040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:5339 cyclic hematopoiesis ISO RGD:1353040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:5844 myocardial infarction ISO RGD:621372 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium (rat) PMID:29300489|REF_RGD_ID:13792656 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:5844 myocardial infarction treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:23809007|REF_RGD_ID:13792681 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:630 genetic disease ISO RGD:1353040 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:700 mitochondrial metabolism disease ISO RGD:1353040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:29478781 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:9000815 Aortic Calcification treatment ISO RGD:621372 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:26047104|REF_RGD_ID:11057945 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:9003936 Cardiomegaly treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:25880160|REF_RGD_ID:13792672 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:25738576|REF_RGD_ID:13792675 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:24232000|REF_RGD_ID:13792678 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621372 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium (rat) PMID:25305180|REF_RGD_ID:13792676 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:26109848|REF_RGD_ID:13792666 8809824 Atp5f1d ATP synthase F1 subunit delta gene DOID:9970 obesity treatment ISO RGD:621372 D RGD:9068941 20200609 RGD PMID:27874268|REF_RGD_ID:13792665 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0080000 muscular disease ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0081268 pulmonary venoocclusive disease 1 ISO RGD:1322904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant PMID:24033266 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0081269 pulmonary venoocclusive disease 2 ISO RGD:1322904 D RGD:7240710 20180130 OMIM 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:0081269 pulmonary venoocclusive disease 2 ISO RGD:1322904 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis PMID:12215525|PMID:24033266|PMID:24135949|PMID:24292273|PMID:24310610|PMID:25512148|PMID:25741868|PMID:26387786|PMID:27684876|PMID:28492532|PMID:28972005|PMID:29743074|PMID:30285736|PMID:31711431|PMID:32581362 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:2717 Bloom syndrome ISO RGD:1322904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:2914 immune system disease ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:421 hair disease ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292273 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:1322904 D RGD:9068941 20200903 RGD protein:decreased expression:lung PMID:32209028|REF_RGD_ID:38549370 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:5453 pulmonary venoocclusive disease disease_progression ISO RGD:1311439 D RGD:9068941 20200903 RGD PMID:32209028|REF_RGD_ID:38549370 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:630 genetic disease ISO RGD:1322904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:6432 pulmonary hypertension ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292273 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1322904 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:28492532|PMID:32581362 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1322904 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:28492532|PMID:32581362 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9252 amino acid metabolic disorder ISO RGD:1322904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 8809845 Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 gene DOID:9256 colorectal cancer ISO RGD:1322904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8809888 Igf2bp3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:0070297 primary microcephaly ISO RGD:1606570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 8809888 Igf2bp3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:1790 malignant mesothelioma ISO RGD:1606570 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23621518 8809888 Igf2bp3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8809888 Igf2bp3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:630 genetic disease ISO RGD:1606570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809888 Igf2bp3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1606570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8809888 Igf2bp3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8809888 Igf2bp3 insulin like growth factor 2 mRNA binding protein 3 gene DOID:9001834 Peritoneal Neoplasms ISO RGD:1606570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23621518 8809921 Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8809921 Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 8809921 Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:12849 autistic disorder ISO RGD:1350342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:21681106|PMID:25741868|PMID:30208311 8809921 Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:630 genetic disease ISO RGD:1350342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14536084 8809921 Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8809921 Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1350342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED PMID:25741868 8809962 Ccdc28a coiled-coil domain containing 28A gene DOID:2661 myoepithelioma ISO RGD:1351078 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8809962 Ccdc28a coiled-coil domain containing 28A gene DOID:630 genetic disease ISO RGD:1351078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809962 Ccdc28a coiled-coil domain containing 28A gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1351078 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8809979 Vcpip1 valosin containing protein interacting protein 1 gene DOID:3911 progeria ISO RGD:1552825 D RGD:9068941 20220825 MouseDO OMIM:176670 8809979 Vcpip1 valosin containing protein interacting protein 1 gene DOID:630 genetic disease ISO RGD:1604797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8809986 Capn10 calpain 10 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:732443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8809986 Capn10 calpain 10 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:732443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8809986 Capn10 calpain 10 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:732443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8809986 Capn10 calpain 10 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:732443 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8809986 Capn10 calpain 10 gene DOID:1059 intellectual disability ISO RGD:732443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8809986 Capn10 calpain 10 gene DOID:11612 polycystic ovary syndrome ISO RGD:732443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic ovary syndrome, susceptibility to PMID:11017071|PMID:11481585|PMID:12161543|PMID:14574648|PMID:14602801 8809986 Capn10 calpain 10 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3792267 (human) PMID:20178008|REF_RGD_ID:4107073 8809986 Capn10 calpain 10 gene DOID:630 genetic disease ISO RGD:732443 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8809986 Capn10 calpain 10 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:732443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8809986 Capn10 calpain 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22012129|REF_RGD_ID:7247733 8809986 Capn10 calpain 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69354 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney cortex PMID:22568896|REF_RGD_ID:7247732 8809986 Capn10 calpain 10 gene DOID:9006646 Metabolic Syndrome ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16546286|REF_RGD_ID:1625050 8809986 Capn10 calpain 10 gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:732443 D RGD:7240710 20180130 OMIM 8809986 Capn10 calpain 10 gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:732443 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus 1, susceptibility to PMID:11017071|PMID:11481585|PMID:12107250|PMID:12161543|PMID:14574648|PMID:14602801|PMID:15240652|PMID:16721485|PMID:25741868|PMID:25773692 8809986 Capn10 calpain 10 gene DOID:9007692 Insulin Resistance ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3792267 (human) PMID:11018080|REF_RGD_ID:7247736 8809986 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69354 D RGD:9068941 20200609 RGD DNA:SNP PMID:14658759|REF_RGD_ID:737693 8809986 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69354 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:14646187|REF_RGD_ID:1625063 8809986 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349674 8809986 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2975760 (human) PMID:18554168|REF_RGD_ID:7247735 8809986 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16721485|REF_RGD_ID:1625049 8809986 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:SNPs:intron:rs3792267, rs2975760 (human) PMID:20406624|REF_RGD_ID:7247734 8809986 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732443 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:19688040|REF_RGD_ID:4107074 8809986 Capn10 calpain 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736979 D RGD:9068941 20200609 RGD PMID:22012129|REF_RGD_ID:7247733 8809986 Capn10 calpain 10 gene DOID:9970 obesity ISO RGD:732443 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16752174|REF_RGD_ID:1625047 8810005 Fau FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8810005 Fau FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:1059 intellectual disability ISO RGD:1351680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8810005 Fau FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8810005 Fau FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:2746 glycogen storage disease V ISO RGD:1351680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8810005 Fau FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:3070 high grade glioma ISO RGD:1351680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8810005 Fau FAU ubiquitin like and ribosomal protein S30 fusion gene DOID:630 genetic disease ISO RGD:1351680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810014 Hk3 hexokinase 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8810014 Hk3 hexokinase 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8810014 Hk3 hexokinase 3 gene DOID:14748 Sotos syndrome ISO RGD:736939 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8810014 Hk3 hexokinase 3 gene DOID:2843 long QT syndrome ISO RGD:736939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8810014 Hk3 hexokinase 3 gene DOID:409 liver disease ISO RGD:736939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8810014 Hk3 hexokinase 3 gene DOID:630 genetic disease ISO RGD:736939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810014 Hk3 hexokinase 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:736939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8810014 Hk3 hexokinase 3 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:736939 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8810068 Gal galanin and GMAP prepropeptide gene DOID:0060754 familial temporal lobe epilepsy 8 ISO RGD:737194 D RGD:7240710 20180130 OMIM 8810068 Gal galanin and GMAP prepropeptide gene DOID:0060754 familial temporal lobe epilepsy 8 ISO RGD:737194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 8 PMID:17576681|PMID:25691535|PMID:25741868|PMID:28492532|PMID:9536098 8810068 Gal galanin and GMAP prepropeptide gene DOID:1059 intellectual disability ISO RGD:737194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8810068 Gal galanin and GMAP prepropeptide gene DOID:10763 hypertension ISO RGD:61954 D RGD:9068941 20200609 RGD mRNA:decreased expression:paraventricular hypothalamic nucleus, solitary tract nucleus PMID:15275958|REF_RGD_ID:1624333 8810068 Gal galanin and GMAP prepropeptide gene DOID:10763 hypertension ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10818254 8810068 Gal galanin and GMAP prepropeptide gene DOID:1188 mononeuropathy ISO RGD:61954 D RGD:9068941 20200609 RGD PMID:17383023|REF_RGD_ID:1624339 8810068 Gal galanin and GMAP prepropeptide gene DOID:1470 major depressive disorder ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 8810068 Gal galanin and GMAP prepropeptide gene DOID:1826 epilepsy ISO RGD:737194 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8810068 Gal galanin and GMAP prepropeptide gene DOID:2316 brain ischemia ISO RGD:61954 D RGD:9068941 20200609 RGD PMID:16458372|REF_RGD_ID:1624341 8810068 Gal galanin and GMAP prepropeptide gene DOID:2559 opiate dependence susceptibility ISO RGD:737194 D RGD:9068941 20231207 RGD DNA:SNP: :rs948854(human) PMID:24086514|REF_RGD_ID:401901242 8810068 Gal galanin and GMAP prepropeptide gene DOID:630 genetic disease ISO RGD:737194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8810068 Gal galanin and GMAP prepropeptide gene DOID:9002211 Hyperalgesia ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12787826 8810068 Gal galanin and GMAP prepropeptide gene DOID:9002554 Tachycardia ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10818254 8810068 Gal galanin and GMAP prepropeptide gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:737194 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8810068 Gal galanin and GMAP prepropeptide gene DOID:9005372 Inflammation ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17999197 8810068 Gal galanin and GMAP prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61954 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet PMID:11489087|REF_RGD_ID:2313740 8810068 Gal galanin and GMAP prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62247 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet PMID:7505518|REF_RGD_ID:2313742 8810068 Gal galanin and GMAP prepropeptide gene DOID:9005968 Neuralgia ISO RGD:737194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 8810068 Gal galanin and GMAP prepropeptide gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:737194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8810068 Gal galanin and GMAP prepropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737194 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15735230|REF_RGD_ID:2313738 8810068 Gal galanin and GMAP prepropeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:61954 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:celiac ganglion PMID:16487586|REF_RGD_ID:1624331 8810068 Gal galanin and GMAP prepropeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:737194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16060906|REF_RGD_ID:2313736 8810068 Gal galanin and GMAP prepropeptide gene DOID:9970 obesity ISO RGD:737194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11220530|REF_RGD_ID:1624334 8810068 Gal galanin and GMAP prepropeptide gene DOID:9970 obesity no_association ISO RGD:737194 D RGD:9068941 20200609 RGD PMID:15930442|REF_RGD_ID:1625748 8810076 Klf10 KLF transcription factor 10 gene DOID:0111590 Cohen syndrome ISO RGD:1348365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8810076 Klf10 KLF transcription factor 10 gene DOID:630 genetic disease ISO RGD:1348365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8810083 Nemp1 nuclear envelope integral membrane protein 1 gene DOID:630 genetic disease ISO RGD:1603697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810119 Acss3 acyl-CoA synthetase short chain family member 3 gene DOID:630 genetic disease ISO RGD:1603012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810142 Lamb3 laminin subunit beta 3 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:1344175 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:10577906|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16199547|PMID:16403119|PMID:16439963|PMID:16473856|PMID:16971478|PMID:17476356|PMID:20301304|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24033266|PMID:24617447|PMID:24947307|PMID:25525159|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28392661|PMID:28492532|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30544381|PMID:32484238|PMID:34231856|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8362910|PMID:8541876|PMID:8755931|PMID:8824879|PMID:8983017|PMID:9160387|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9457915|PMID:9579554|PMID:9690563|PMID:9767254|PMID:9856852 8810142 Lamb3 laminin subunit beta 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:12813757|PMID:15311214|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16439963|PMID:16473856|PMID:17115047|PMID:17476356|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:27062385|PMID:27375110|PMID:28087116|PMID:28492532|PMID:28830826|PMID:29334134|PMID:30544381|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9501007|PMID:9690563|PMID:9767254|PMID:9856855 8810142 Lamb3 laminin subunit beta 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1344175 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:15725250|PMID:16199547|PMID:16439963|PMID:16473856|PMID:17115047|PMID:17476356|PMID:17576681|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:22931927|PMID:23278291|PMID:24617447|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28492532|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30046887|PMID:30544381|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9501007|PMID:9536098|PMID:9690563|PMID:9767254|PMID:9856855 8810142 Lamb3 laminin subunit beta 3 gene DOID:0110054 amelogenesis imperfecta type 1A ISO RGD:1344175 D RGD:7240710 20180130 OMIM 8810142 Lamb3 laminin subunit beta 3 gene DOID:0110054 amelogenesis imperfecta type 1A ISO RGD:1344175 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A PMID:10577906|PMID:11023379|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16439963|PMID:16473856|PMID:16674655|PMID:17476356|PMID:17576681|PMID:20301304|PMID:21801158|PMID:23278291|PMID:23632796|PMID:23958762|PMID:24617447|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28492532|PMID:28561256|PMID:28830826|PMID:30544381|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9160387|PMID:9205497|PMID:9242513|PMID:9536098|PMID:9767254 8810142 Lamb3 laminin subunit beta 3 gene DOID:12849 autistic disorder ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8810142 Lamb3 laminin subunit beta 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8810142 Lamb3 laminin subunit beta 3 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1344175 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:10577906|PMID:11023379|PMID:11296269|PMID:11298117|PMID:11451332|PMID:11689492|PMID:11810295|PMID:12813757|PMID:15311214|PMID:15373767|PMID:15538630|PMID:15663509|PMID:16199547|PMID:16473856|PMID:17476356|PMID:17576681|PMID:17916201|PMID:19369679|PMID:20301304|PMID:20574443|PMID:21801158|PMID:22931927|PMID:24033266|PMID:24617447|PMID:24947307|PMID:25525159|PMID:25708563|PMID:25741868|PMID:25950805|PMID:27062385|PMID:27375110|PMID:27480391|PMID:28087116|PMID:28492532|PMID:28561256|PMID:28830826|PMID:29334134|PMID:29900604|PMID:30046887|PMID:32484238|PMID:33274474|PMID:34231856|PMID:36246619|PMID:7550237|PMID:7698759|PMID:7706760|PMID:8824879|PMID:8983017|PMID:9038345|PMID:9205497|PMID:9242513|PMID:9326326|PMID:9501007|PMID:9536098|PMID:9690563|PMID:9767254|PMID:9856855 8810142 Lamb3 laminin subunit beta 3 gene DOID:3209 junctional epidermolysis bullosa susceptibility ISO RGD:1344175 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:7698759|REF_RGD_ID:1600209 8810142 Lamb3 laminin subunit beta 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344175 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:10964684|REF_RGD_ID:13793368 8810142 Lamb3 laminin subunit beta 3 gene DOID:5409 lung small cell carcinoma ISO RGD:1344175 D RGD:9068941 20200609 RGD DNA:hyper-methylation:promoter: PMID:12855645|REF_RGD_ID:13793369 8810142 Lamb3 laminin subunit beta 3 gene DOID:630 genetic disease ISO RGD:1344175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31036833 8810142 Lamb3 laminin subunit beta 3 gene DOID:9000850 Junctional Epidermolysis Bullosa 1A, Intermediate ISO RGD:1344175 D RGD:7240710 20220608 OMIM 8810142 Lamb3 laminin subunit beta 3 gene DOID:9001145 Junctional Epidermolysis Bullosa 1B, Severe ISO RGD:1344175 D RGD:7240710 20220608 OMIM 8810142 Lamb3 laminin subunit beta 3 gene DOID:9001600 Wounds and Injuries ISO RGD:1344175 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15541073 8810142 Lamb3 laminin subunit beta 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8810186 Smad3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:17576681|PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:31085000|PMID:9536098 8810186 Smad3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000 8810186 Smad3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:21217753|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000|PMID:31915033 8810186 Smad3 SMAD family member 3 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:16199547|PMID:17576681|PMID:21217753|PMID:21778426|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29392890|PMID:30661052|PMID:30787465|PMID:31085000|PMID:31915033|PMID:9536098 8810186 Smad3 SMAD family member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:3032 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver PMID:24680176|REF_RGD_ID:12903951 8810186 Smad3 SMAD family member 3 gene DOID:0070237 Loeys-Dietz syndrome 3 ISO RGD:1343311 D RGD:7240710 20180130 OMIM 8810186 Smad3 SMAD family member 3 gene DOID:0070237 Loeys-Dietz syndrome 3 ISO RGD:1343311 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C PMID:15350224|PMID:16828225|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:22167769|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25555948|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:27724990|PMID:28185953|PMID:28492532|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31915033|PMID:32154675|PMID:33059708|PMID:33125268|PMID:36495030 8810186 Smad3 SMAD family member 3 gene DOID:0080334 aortic valve disease 2 ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:28492532 8810186 Smad3 SMAD family member 3 gene DOID:0080685 aortic dissection ISO RGD:1343311 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:16199547|PMID:21778426|PMID:24804794|PMID:25741868|PMID:28492532|PMID:32597575 8810186 Smad3 SMAD family member 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1343311 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significantly elevated in 53/67 (79%, p=0.0002) overall, in 23/35 with Gleason score 6-7(66%) and 30/32 with Gleason score 8-10 (94%, p=0.0062); by immunohistochemistry PMID:17908958|REF_RGD_ID:2300396 8810186 Smad3 SMAD family member 3 gene DOID:127 leiomyoma ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 8810186 Smad3 SMAD family member 3 gene DOID:1324 lung cancer ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465804|PMID:26253951 8810186 Smad3 SMAD family member 3 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1343311 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:15350224|PMID:21217753|PMID:22167769|PMID:23554019|PMID:24033266|PMID:25644172|PMID:25741868|PMID:25944730|PMID:28185953|PMID:28492532|PMID:29392890|PMID:29510914|PMID:29717556|PMID:30661052|PMID:30787465|PMID:32154675|PMID:36495030 8810186 Smad3 SMAD family member 3 gene DOID:1380 endometrial cancer ISO RGD:1343311 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12883738|REF_RGD_ID:2299970 8810186 Smad3 SMAD family member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1343311 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26854089|PMID:27724990|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:33125268|PMID:9536098 8810186 Smad3 SMAD family member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1343311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25944730|PMID:26133393|PMID:26333736|PMID:26854089|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:32597575|PMID:33125268|PMID:9536098 8810186 Smad3 SMAD family member 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1343311 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:11224571|PMID:15350224|PMID:16199547|PMID:16828225|PMID:17576681|PMID:17725494|PMID:21217753|PMID:21778426|PMID:21815248|PMID:21835029|PMID:21949838|PMID:22167769|PMID:23139211|PMID:23554019|PMID:24033266|PMID:24711937|PMID:24804794|PMID:25555948|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25877775|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26333736|PMID:26633542|PMID:26854089|PMID:27724990|PMID:27986426|PMID:28185953|PMID:28391405|PMID:28492532|PMID:29392890|PMID:29444731|PMID:29510914|PMID:29543232|PMID:29650765|PMID:29717556|PMID:29907982|PMID:30661052|PMID:30675029|PMID:30739908|PMID:30787465|PMID:31085000|PMID:31096651|PMID:31098894|PMID:31915033|PMID:32154675|PMID:32597575|PMID:33059708|PMID:33125268|PMID:34122524|PMID:36495030|PMID:9536098 8810186 Smad3 SMAD family member 3 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 8810186 Smad3 SMAD family member 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8810186 Smad3 SMAD family member 3 gene DOID:1793 pancreatic cancer ISO RGD:1343311 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 8810186 Smad3 SMAD family member 3 gene DOID:2717 Bloom syndrome ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8810186 Smad3 SMAD family member 3 gene DOID:3393 coronary artery disease ISO RGD:1343311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868 8810186 Smad3 SMAD family member 3 gene DOID:3627 aortic aneurysm ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:25741868 8810186 Smad3 SMAD family member 3 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1343311 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 8810186 Smad3 SMAD family member 3 gene DOID:3883 Lynch syndrome ISO RGD:1343311 D RGD:9068941 20200609 RGD PMID:10819637|REF_RGD_ID:1599900 8810186 Smad3 SMAD family member 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343311 D RGD:9068941 20220818 RGD protein:increased expression:lung (human) PMID:25375657|REF_RGD_ID:11074609 8810186 Smad3 SMAD family member 3 gene DOID:5082 liver cirrhosis ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21605584 8810186 Smad3 SMAD family member 3 gene DOID:5199 ureteral obstruction ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 8810186 Smad3 SMAD family member 3 gene DOID:520 aortic disease ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:21778426|PMID:24804794|PMID:25741868|PMID:28492532|PMID:31098894 8810186 Smad3 SMAD family member 3 gene DOID:5844 myocardial infarction ameliorates ISO RGD:735647 D RGD:9068941 20230921 RGD PMID:33409963|REF_RGD_ID:401794430 8810186 Smad3 SMAD family member 3 gene DOID:630 genetic disease ISO RGD:1343311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8810186 Smad3 SMAD family member 3 gene DOID:65 connective tissue disease ISO RGD:1343311 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:21217753|PMID:24804794|PMID:25644172|PMID:25741868|PMID:25877775|PMID:28492532|PMID:30661052|PMID:30739908|PMID:31085000 8810186 Smad3 SMAD family member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8810186 Smad3 SMAD family member 3 gene DOID:8398 osteoarthritis ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21217753|PMID:22772368 8810186 Smad3 SMAD family member 3 gene DOID:8398 osteoarthritis ISO RGD:735647 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 8810186 Smad3 SMAD family member 3 gene DOID:8778 Crohn's disease ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 8810186 Smad3 SMAD family member 3 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:25741868 8810186 Smad3 SMAD family member 3 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:25741868|PMID:28492532 8810186 Smad3 SMAD family member 3 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3032 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 8810186 Smad3 SMAD family member 3 gene DOID:9001665 Aneurysm ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:25741868 8810186 Smad3 SMAD family member 3 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3032 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 8810186 Smad3 SMAD family member 3 gene DOID:9004268 Uterine Neoplasms ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 8810186 Smad3 SMAD family member 3 gene DOID:9004303 Tubulointerstitial Fibrosis ameliorates ISO RGD:735647 D RGD:9068941 20230921 RGD PMID:32065356|REF_RGD_ID:401824679 8810186 Smad3 SMAD family member 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27422367 8810186 Smad3 SMAD family member 3 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8810186 Smad3 SMAD family member 3 gene DOID:9006045 Dissecting Aneurysm ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21217753 8810186 Smad3 SMAD family member 3 gene DOID:9007174 Ventricular Remodeling ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16635409 8810186 Smad3 SMAD family member 3 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:735647 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 8810186 Smad3 SMAD family member 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3032 D RGD:9068941 20200609 RGD PMID:22913380|REF_RGD_ID:12903950 8810186 Smad3 SMAD family member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8810186 Smad3 SMAD family member 3 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1343311 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:28492532 8810186 Smad3 SMAD family member 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1343311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15183723|PMID:21217753 8810186 Smad3 SMAD family member 3 gene DOID:9256 colorectal cancer ISO RGD:1343311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8810204 Rundc3b RUN domain containing 3B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8810204 Rundc3b RUN domain containing 3B gene DOID:630 genetic disease ISO RGD:1601714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810221 Rpl9 ribosomal protein L9 gene DOID:630 genetic disease ISO RGD:736467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810221 Rpl9 ribosomal protein L9 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:736467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency PMID:28492532 8810221 Rpl9 ribosomal protein L9 gene DOID:9004484 Sepsis ISO RGD:736467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27978524 8810238 Esco1 establishment of sister chromatid cohesion N-acetyltransferase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1353486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 8810238 Esco1 establishment of sister chromatid cohesion N-acetyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1353486 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8810238 Esco1 establishment of sister chromatid cohesion N-acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1353486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810267 C1qtnf3 C1q and TNF related 3 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1312783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 8810267 C1qtnf3 C1q and TNF related 3 gene DOID:630 genetic disease ISO RGD:1312783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810267 C1qtnf3 C1q and TNF related 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8810288 Nkain2 sodium/potassium transporting ATPase interacting 2 gene DOID:630 genetic disease ISO RGD:1349938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810304 Foxo4 forkhead box O4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8810304 Foxo4 forkhead box O4 gene DOID:0080147 lymphoblastic lymphoma ISO RGD:1556902 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 8810304 Foxo4 forkhead box O4 gene DOID:1059 intellectual disability ISO RGD:1353756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8810304 Foxo4 forkhead box O4 gene DOID:10808 gastric ulcer ISO RGD:1561201 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gastric mucosa: PMID:22735908|REF_RGD_ID:10402364 8810304 Foxo4 forkhead box O4 gene DOID:12849 autistic disorder ISO RGD:1353756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8810304 Foxo4 forkhead box O4 gene DOID:251 alcohol-induced mental disorder ISO RGD:1561201 D RGD:9068941 20200609 RGD protein:increased phosphorylation:small intestine: PMID:23292333|REF_RGD_ID:10402360 8810304 Foxo4 forkhead box O4 gene DOID:255 hemangioma ISO RGD:1556902 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 8810304 Foxo4 forkhead box O4 gene DOID:607 paraplegia ISO RGD:1561201 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle: PMID:18236467|REF_RGD_ID:5509082 8810304 Foxo4 forkhead box O4 gene DOID:630 genetic disease ISO RGD:1353756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810304 Foxo4 forkhead box O4 gene DOID:9002514 Neointima ISO RGD:1556902 D RGD:9068941 20200609 RGD PMID:17242183|REF_RGD_ID:10402361 8810304 Foxo4 forkhead box O4 gene DOID:9002514 Neointima ISO RGD:1556902 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell: PMID:16054032|REF_RGD_ID:10402362 8810304 Foxo4 forkhead box O4 gene DOID:9003816 Macrocephaly ISO RGD:1353756 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 8810304 Foxo4 forkhead box O4 gene DOID:9007898 FG Syndrome 1 ISO RGD:1353756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 8810304 Foxo4 forkhead box O4 gene DOID:9008824 Sarcopenia ISO RGD:1561201 D RGD:9068941 20200609 RGD PMID:16870627|REF_RGD_ID:10402356 8810315 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1316914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:28492532 8810315 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316914 D RGD:7240710 20180130 OMIM 8810315 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316914 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:14606043|PMID:16199547|PMID:16429158|PMID:17576681|PMID:19561293|PMID:21384131|PMID:21576112|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25741868|PMID:26138142|PMID:26257172|PMID:26467025|PMID:26975778|PMID:27027447|PMID:28440294|PMID:28492532|PMID:29302074|PMID:30304524|PMID:30340945|PMID:3034524|PMID:31130284|PMID:34352414|PMID:34536092|PMID:9536098 8810315 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1316914 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14606043|PMID:16429158|PMID:19561293|PMID:21384131|PMID:25741868|PMID:26138142|PMID:26257172|PMID:26975778|PMID:28492532 8810315 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1316914 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16429158|PMID:21384131|PMID:25741868|PMID:26257172|PMID:26467025|PMID:28492532|PMID:29302074|PMID:30340945|PMID:31130284|PMID:34536092 8810315 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:9000988 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 ISO RGD:1316914 D RGD:7240710 20210728 OMIM 8810315 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:9000988 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 ISO RGD:1316914 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 PMID:14606043|PMID:16429158|PMID:19561293|PMID:25741868|PMID:26138142|PMID:26257172|PMID:26467025|PMID:26975778|PMID:27633801|PMID:28492532|PMID:29232904|PMID:29302074|PMID:30304524|PMID:3034524|PMID:31130284|PMID:33490854|PMID:34352414|PMID:34536092 8810315 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:29232904 8810315 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1316914 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset PMID:25741868 8810315 Yars1 tyrosyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:27633801|PMID:33490854 8810344 Lpcat2 lysophosphatidylcholine acyltransferase 2 gene DOID:0080696 Winchester syndrome ISO RGD:1606279 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Winchester-Grossman syndrome 8810344 Lpcat2 lysophosphatidylcholine acyltransferase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1606279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8810344 Lpcat2 lysophosphatidylcholine acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1606279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810344 Lpcat2 lysophosphatidylcholine acyltransferase 2 gene DOID:9006569 Osteolysis Hereditary Multicentric ISO RGD:1606279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteolysis, hereditary multicentric 8810362 Ldaf1 lipid droplet assembly factor 1 gene DOID:630 genetic disease ISO RGD:1601747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810376 Gdpd1 glycerophosphodiester phosphodiesterase domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349545 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8810376 Gdpd1 glycerophosphodiester phosphodiesterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1349545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810425 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:732792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532 8810425 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:732792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 8810425 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:732792 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8810425 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ISO RGD:732792 D RGD:7240710 20190315 OMIM 8810425 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ISO RGD:732792 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 PMID:15372108|PMID:17576681|PMID:19259137|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28429146|PMID:28490743|PMID:28492532|PMID:30948790|PMID:9536098 8810425 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:732792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8810425 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:1059 intellectual disability ISO RGD:732792 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8810425 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:1059 intellectual disability ISO RGD:732792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8810425 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:4362 cervical cancer disease_progression ISO RGD:732792 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:uterine cervix PMID:18559093|REF_RGD_ID:2302384 8810425 Ndufs6 NADH:ubiquinone oxidoreductase subunit S6 gene DOID:630 genetic disease ISO RGD:732792 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15372108|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 8810433 Rbsn rabenosyn, RAB effector gene DOID:0060417 3p deletion syndrome ISO RGD:1313404 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8810433 Rbsn rabenosyn, RAB effector gene DOID:630 genetic disease ISO RGD:1313404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810462 Rpl15 ribosomal protein L15 gene DOID:0111882 Diamond-Blackfan anemia 12 ISO RGD:736821 D RGD:7240710 20180130 OMIM 8810462 Rpl15 ribosomal protein L15 gene DOID:0111882 Diamond-Blackfan anemia 12 ISO RGD:736821 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition PMID:23812780|PMID:25741868|PMID:28492532|PMID:29599205 8810462 Rpl15 ribosomal protein L15 gene DOID:630 genetic disease ISO RGD:736821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8810462 Rpl15 ribosomal protein L15 gene DOID:9000217 Stomach Neoplasms ISO RGD:736821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8810462 Rpl15 ribosomal protein L15 gene DOID:9000918 Disease Progression ISO RGD:736821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8810476 Lrrc8a leucine rich repeat containing 8 VRAC subunit A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1323279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8810476 Lrrc8a leucine rich repeat containing 8 VRAC subunit A gene DOID:0080588 agammaglobulinemia 5 ISO RGD:1323279 D RGD:7240710 20190327 OMIM 8810476 Lrrc8a leucine rich repeat containing 8 VRAC subunit A gene DOID:0080588 agammaglobulinemia 5 ISO RGD:1323279 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition PMID:24033266|PMID:25741868|PMID:28492532 8810476 Lrrc8a leucine rich repeat containing 8 VRAC subunit A gene DOID:2583 agammaglobulinemia ISO RGD:1323279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8810476 Lrrc8a leucine rich repeat containing 8 VRAC subunit A gene DOID:2583 agammaglobulinemia ISO RGD:1323279 D RGD:9068941 20200609 RGD PMID:14660746|REF_RGD_ID:1599837 8810476 Lrrc8a leucine rich repeat containing 8 VRAC subunit A gene DOID:630 genetic disease ISO RGD:1323279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8810495 Arhgef3 Rho guanine nucleotide exchange factor 3 gene DOID:630 genetic disease ISO RGD:1321712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810528 Extl3 exostosin like glycosyltransferase 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8810528 Extl3 exostosin like glycosyltransferase 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8810528 Extl3 exostosin like glycosyltransferase 3 gene DOID:630 genetic disease ISO RGD:735783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8810528 Extl3 exostosin like glycosyltransferase 3 gene DOID:9001094 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities ISO RGD:735783 D RGD:7240710 20190315 OMIM 8810528 Extl3 exostosin like glycosyltransferase 3 gene DOID:9001094 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities ISO RGD:735783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities PMID:25741868|PMID:28132690|PMID:28148688|PMID:28492532 8810551 Jak3 Janus kinase 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23832011 8810551 Jak3 Janus kinase 3 gene DOID:0050458 juvenile myelomonocytic leukemia disease_progression ISO RGD:737593 D RGD:9068941 20200609 RGD PMID:23832011|REF_RGD_ID:11069125 8810551 Jak3 Janus kinase 3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737593 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) PMID:21821710|REF_RGD_ID:11531131 8810551 Jak3 Janus kinase 3 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:26860129|REF_RGD_ID:11531126 8810551 Jak3 Janus kinase 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8810551 Jak3 Janus kinase 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737593 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:14615376|PMID:28492532|PMID:33040328 8810551 Jak3 Janus kinase 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22705984|PMID:23689514 8810551 Jak3 Janus kinase 3 gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:737593 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:pM511I, p.R657Q (human) PMID:24446122|REF_RGD_ID:11531125 8810551 Jak3 Janus kinase 3 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:12010825|REF_RGD_ID:11531124 8810551 Jak3 Janus kinase 3 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:11781254|REF_RGD_ID:1600262 8810551 Jak3 Janus kinase 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma treatment ISO RGD:737593 D RGD:9068941 20200609 RGD PMID:24153015|REF_RGD_ID:11531129 8810551 Jak3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29375547|PMID:30697212|PMID:31440277|PMID:31589898|PMID:32445296|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 8810551 Jak3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:28109013|PMID:28492532|PMID:28916186|PMID:29375547|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32445296|PMID:33040328|PMID:33365035|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 8810551 Jak3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:20132407|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29049190|PMID:29375547|PMID:30177960|PMID:30697212|PMID:30778343|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32445296|PMID:32754152|PMID:33040328|PMID:33365035|PMID:35482138|PMID:7481768|PMID:7659163|PMID:9354668|PMID:9536098|PMID:9753072 8810551 Jak3 Janus kinase 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:737593 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:19763152|PMID:20132407|PMID:20307669|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22406018|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27174491|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29049190|PMID:29375547|PMID:30032486|PMID:30177960|PMID:30697212|PMID:30778343|PMID:31031743|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32445296|PMID:32754152|PMID:33040328|PMID:33365035|PMID:34173127|PMID:35482138|PMID:7481768|PMID:7659163|PMID:8704236|PMID:9354668|PMID:9536098|PMID:9753072 8810551 Jak3 Janus kinase 3 gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:10824 D RGD:9068941 20220825 MouseDO OMIM:608971 8810551 Jak3 Janus kinase 3 gene DOID:14069 cerebral malaria ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:22363534|REF_RGD_ID:11531103 8810551 Jak3 Janus kinase 3 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:16843266|PMID:20372971|PMID:20385788|PMID:22271575|PMID:25157968 8810551 Jak3 Janus kinase 3 gene DOID:2476 hereditary spastic paraplegia ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8810551 Jak3 Janus kinase 3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737593 D RGD:9068941 20200609 RGD PMID:25193870|REF_RGD_ID:11531122 8810551 Jak3 Janus kinase 3 gene DOID:5810 adenosine deaminase deficiency ISO RGD:737593 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:14615376|PMID:17433830|PMID:17644747|PMID:19203666|PMID:21184155|PMID:23384681|PMID:25146434|PMID:25741868|PMID:28492532|PMID:30697212|PMID:30778343|PMID:32754152|PMID:33365035|PMID:34173127|PMID:35482138|PMID:7481768|PMID:9354668|PMID:9753072 8810551 Jak3 Janus kinase 3 gene DOID:614 lymphopenia ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphopenia PMID:25741868|PMID:28492532 8810551 Jak3 Janus kinase 3 gene DOID:627 severe combined immunodeficiency ISO RGD:737593 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:14615376|PMID:15644840|PMID:17433830|PMID:17644747|PMID:18559588|PMID:19203666|PMID:21184155|PMID:23384681|PMID:25146434|PMID:25741868|PMID:28492532|PMID:30293248|PMID:30697212|PMID:30778343|PMID:32754152|PMID:33365035|PMID:34173127|PMID:35482138|PMID:7481768|PMID:9354668|PMID:9753072 8810551 Jak3 Janus kinase 3 gene DOID:627 severe combined immunodeficiency treatment ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:9427607|REF_RGD_ID:11531109 8810551 Jak3 Janus kinase 3 gene DOID:630 genetic disease ISO RGD:737593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8810551 Jak3 Janus kinase 3 gene DOID:707 B-cell lymphoma ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24837469 8810551 Jak3 Janus kinase 3 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:737593 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia | ClinVar Annotator: match by term: Acute megakaryocytic leukemia PMID:10982185|PMID:16843266|PMID:18270328|PMID:18397343|PMID:20132407|PMID:20372971|PMID:20385788|PMID:20400977|PMID:21599579|PMID:21821710|PMID:22271575|PMID:24728327|PMID:25157968|PMID:25741868|PMID:28492532 8810551 Jak3 Janus kinase 3 gene DOID:9000197 Edema treatment ISO RGD:10824 D RGD:9068941 20200609 RGD associated with Hypersensitivity, Delayed PMID:25762693|REF_RGD_ID:11533938 8810551 Jak3 Janus kinase 3 gene DOID:9000933 Leukemoid Reaction ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemoid reaction PMID:18397343|PMID:20400977|PMID:28492532 8810551 Jak3 Janus kinase 3 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:21434883|REF_RGD_ID:11533942 8810551 Jak3 Janus kinase 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:18234077|REF_RGD_ID:11533944 8810551 Jak3 Janus kinase 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:18234077|PMID:21434883|PMID:25762693|REF_RGD_ID:11533938|REF_RGD_ID:11533942|REF_RGD_ID:11533944 8810551 Jak3 Janus kinase 3 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:737593 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LYMPHOMATOUS ALL PMID:10982185|PMID:16843266|PMID:18270328|PMID:20132407|PMID:20372971|PMID:21599579|PMID:21821710|PMID:24728327|PMID:25157968|PMID:25741868|PMID:28492532 8810551 Jak3 Janus kinase 3 gene DOID:9002669 Hypoxia ISO RGD:2940 D RGD:9068941 20211203 RGD protein:increased expression:lung PMID:14703438|REF_RGD_ID:150527843 8810551 Jak3 Janus kinase 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:25012120|REF_RGD_ID:11533939 8810551 Jak3 Janus kinase 3 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:2940 D RGD:9068941 20200609 RGD PMID:23514809|REF_RGD_ID:11533940 8810551 Jak3 Janus kinase 3 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:737593 D RGD:7240710 20180130 OMIM 8810551 Jak3 Janus kinase 3 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:737593 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: JAK3-related condition | ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:10900158|PMID:10982185|PMID:11213805|PMID:11668610|PMID:11668621|PMID:11741532|PMID:11781709|PMID:14615376|PMID:16199547|PMID:16843266|PMID:17252020|PMID:17433830|PMID:17456055|PMID:17576681|PMID:17644747|PMID:18270328|PMID:18397343|PMID:18845095|PMID:19203666|PMID:19282076|PMID:19763152|PMID:20132407|PMID:20307669|PMID:20372971|PMID:20400977|PMID:20417861|PMID:21050946|PMID:21184155|PMID:21228398|PMID:21599579|PMID:21821710|PMID:21868263|PMID:22237106|PMID:22406018|PMID:22425895|PMID:23069490|PMID:23384681|PMID:23832011|PMID:24033266|PMID:24139496|PMID:24446122|PMID:24728327|PMID:25146434|PMID:25157968|PMID:25193870|PMID:25333069|PMID:25395141|PMID:25505553|PMID:25595890|PMID:25672756|PMID:25741868|PMID:25815310|PMID:26321643|PMID:26545580|PMID:26769277|PMID:26915675|PMID:27174491|PMID:27484032|PMID:27577878|PMID:27593409|PMID:28109013|PMID:28492532|PMID:28747913|PMID:28916186|PMID:29049190|PMID:29375547|PMID:30032486|PMID:30177960|PMID:30697212|PMID:30778343|PMID:31031743|PMID:31440277|PMID:31589898|PMID:32135276|PMID:32215810|PMID:32445296|PMID:32754152|PMID:33040328|PMID:33365035|PMID:34173127|PMID:35482138|PMID:7481768|PMID:7659163|PMID:8704236|PMID:9354668|PMID:9536098|PMID:9753072 8810551 Jak3 Janus kinase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:10824 D RGD:9068941 20200609 RGD PMID:22359619|REF_RGD_ID:11531100 8810551 Jak3 Janus kinase 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868|PMID:28492532 8810551 Jak3 Janus kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2940 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21575160|REF_RGD_ID:11533943 8810551 Jak3 Janus kinase 3 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737593 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 8810551 Jak3 Janus kinase 3 gene DOID:9007138 Cd4+ Lymphocyte Deficiency ISO RGD:737593 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.C1066R (c.3196T>C) (human) PMID:25205547|REF_RGD_ID:11531127 8810551 Jak3 Janus kinase 3 gene DOID:9007647 Trichiasis ISO RGD:737593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Trichiasis PMID:25741868|PMID:28492532 8810551 Jak3 Janus kinase 3 gene DOID:9008299 Mediastinal Neoplasms ISO RGD:737593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24837469 8810551 Jak3 Janus kinase 3 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 8810551 Jak3 Janus kinase 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:737593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:25741868|PMID:28492532 8810551 Jak3 Janus kinase 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:737593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8810591 Cmtr1 cap methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1317204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810622 Snrnp35 small nuclear ribonucleoprotein U11/U12 subunit 35 gene DOID:630 genetic disease ISO RGD:1602490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810629 B4galt6 beta-1,4-galactosyltransferase 6 gene DOID:1059 intellectual disability ISO RGD:737376 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8810629 B4galt6 beta-1,4-galactosyltransferase 6 gene DOID:2377 multiple sclerosis ISO RGD:737376 D RGD:9068941 20200609 RGD mRNA:increased expression:white matter PMID:25216636|REF_RGD_ID:14390079 8810629 B4galt6 beta-1,4-galactosyltransferase 6 gene DOID:630 genetic disease ISO RGD:737376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810629 B4galt6 beta-1,4-galactosyltransferase 6 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:737377 D RGD:9068941 20200609 RGD mRNA:increased expression:astrocyte PMID:25216636|REF_RGD_ID:14390079 8810642 Smim13 small integral membrane protein 13 gene DOID:630 genetic disease ISO RGD:5508051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810648 Gabarapl2 GABA type A receptor associated protein like 2 gene DOID:0110989 Joubert syndrome 20 ISO RGD:735450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 8810648 Gabarapl2 GABA type A receptor associated protein like 2 gene DOID:630 genetic disease ISO RGD:735450 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810656 Snapc2 small nuclear RNA activating complex polypeptide 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1312116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8810656 Snapc2 small nuclear RNA activating complex polypeptide 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1312116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8810656 Snapc2 small nuclear RNA activating complex polypeptide 2 gene DOID:630 genetic disease ISO RGD:1312116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810677 Kif13a kinesin family member 13A gene DOID:1826 epilepsy ISO RGD:1317245 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8810677 Kif13a kinesin family member 13A gene DOID:630 genetic disease ISO RGD:1317245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810723 Slc25a35 solute carrier family 25 member 35 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8810723 Slc25a35 solute carrier family 25 member 35 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 8810723 Slc25a35 solute carrier family 25 member 35 gene DOID:2729 dyskeratosis congenita ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8810723 Slc25a35 solute carrier family 25 member 35 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1605787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8810723 Slc25a35 solute carrier family 25 member 35 gene DOID:630 genetic disease ISO RGD:1605787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8810723 Slc25a35 solute carrier family 25 member 35 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1605787 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:30847666|PMID:9536098 8810733 Foxn2 forkhead box N2 gene DOID:0080600 COVID-19 ISO RGD:1343664 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8810733 Foxn2 forkhead box N2 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1343664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 8810733 Foxn2 forkhead box N2 gene DOID:630 genetic disease ISO RGD:1343664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810733 Foxn2 forkhead box N2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 8810755 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1312715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8810755 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1312715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8810755 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:11383 cryptorchidism ISO RGD:1312715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868|PMID:31010896 8810755 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:607 paraplegia ISO RGD:1312715 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8810755 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1312715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810755 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1312715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:31010896 8810755 Lsm1 LSM1 homolog, mRNA degradation associated gene DOID:9008086 Developmental Disabilities ISO RGD:1312715 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31010896 8810772 Ift81 intraflagellar transport 81 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:26275418|PMID:27666822|PMID:28492532 8810772 Ift81 intraflagellar transport 81 gene DOID:0060340 ciliopathy ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:26275418|PMID:28492532 8810772 Ift81 intraflagellar transport 81 gene DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly ISO RGD:1606304 D RGD:7240710 20190315 OMIM 8810772 Ift81 intraflagellar transport 81 gene DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 19 with or without polydactyly PMID:25741868|PMID:26275418|PMID:27666822|PMID:28492532 8810772 Ift81 intraflagellar transport 81 gene DOID:630 genetic disease ISO RGD:1606304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8810772 Ift81 intraflagellar transport 81 gene DOID:9007661 Dwarfism ISO RGD:1606304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 8810799 Jmjd8 jumonji domain containing 8 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1601801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 PMID:24113144|PMID:24719489|PMID:24742043|PMID:25741868|PMID:28492532|PMID:31571321 8810799 Jmjd8 jumonji domain containing 8 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1601801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8810799 Jmjd8 jumonji domain containing 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1601801 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8810799 Jmjd8 jumonji domain containing 8 gene DOID:0111746 cerebellar ataxia type 48 ISO RGD:1601801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 48 PMID:24719489|PMID:25741868|PMID:28492532|PMID:30381368|PMID:31126790|PMID:31571321|PMID:32488064|PMID:34070858 8810799 Jmjd8 jumonji domain containing 8 gene DOID:1826 epilepsy ISO RGD:1601801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8810799 Jmjd8 jumonji domain containing 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1601801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8810799 Jmjd8 jumonji domain containing 8 gene DOID:630 genetic disease ISO RGD:1601801 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8810815 Rbms3 RNA binding motif single stranded interacting protein 3 gene DOID:13641 exfoliation syndrome ISO RGD:1343809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 8810815 Rbms3 RNA binding motif single stranded interacting protein 3 gene DOID:630 genetic disease ISO RGD:1343809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810849 Rad54l RAD54 like gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1321600 D RGD:7240710 20180130 OMIM 8810849 Rad54l RAD54 like gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:10362365 8810849 Rad54l RAD54 like gene DOID:0060252 sclerocornea ISO RGD:1321601 D RGD:9068941 20220825 MouseDO OMIM:181700 8810849 Rad54l RAD54 like gene DOID:0080875 IDH-mutant anaplastic astrocytoma ISO RGD:1321600 D RGD:8554872 20240123 ClinVar ClinVar Annotator: match by term: Astrocytoma IDH-mutant PMID:25741868 8810849 Rad54l RAD54 like gene DOID:14566 disease of cellular proliferation ISO RGD:1321600 D RGD:9068941 20200609 RGD PMID:10362365|REF_RGD_ID:1599748 8810849 Rad54l RAD54 like gene DOID:1612 breast cancer ISO RGD:1321600 D RGD:7240710 20180711 OMIM 8810849 Rad54l RAD54 like gene DOID:1793 pancreatic cancer ISO RGD:1321600 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1048771 (human) PMID:16540687|REF_RGD_ID:2317365 8810849 Rad54l RAD54 like gene DOID:234 colon adenocarcinoma ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:10362365 8810849 Rad54l RAD54 like gene DOID:3007 breast ductal carcinoma ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:10362365 8810849 Rad54l RAD54 like gene DOID:5426 primary ovarian insufficiency ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8810849 Rad54l RAD54 like gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1321600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8810849 Rad54l RAD54 like gene DOID:630 genetic disease ISO RGD:1321600 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8810849 Rad54l RAD54 like gene DOID:684 hepatocellular carcinoma ISO RGD:1321600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8810849 Rad54l RAD54 like gene DOID:9008939 Breast Neoplasms ISO RGD:1321600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8810849 Rad54l RAD54 like gene DOID:9008952 Breast Cancer, Familial ISO RGD:1321600 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 8810882 Fam227a family with sequence similarity 227 member A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8810882 Fam227a family with sequence similarity 227 member A gene DOID:0090036 myoclonic dystonia 26 ISO RGD:6767369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8810882 Fam227a family with sequence similarity 227 member A gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8810882 Fam227a family with sequence similarity 227 member A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:6767369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8810882 Fam227a family with sequence similarity 227 member A gene DOID:630 genetic disease ISO RGD:6767369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810919 Slc10a5 solute carrier family 10 member 5 gene DOID:630 genetic disease ISO RGD:1314423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810925 Crlf2 cytokine receptor like factor 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1352132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24141364 8810925 Crlf2 cytokine receptor like factor 2 gene DOID:12849 autistic disorder ISO RGD:1352132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8810925 Crlf2 cytokine receptor like factor 2 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:1352132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:19907440|PMID:19965641|PMID:20018760|PMID:22368272 8810925 Crlf2 cytokine receptor like factor 2 gene DOID:9002801 Recurrence ISO RGD:1352132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22904298 8810925 Crlf2 cytokine receptor like factor 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838194 8810943 Gchfr GTP cyclohydrolase I feedback regulator gene DOID:2717 Bloom syndrome ISO RGD:1349515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8810943 Gchfr GTP cyclohydrolase I feedback regulator gene DOID:630 genetic disease ISO RGD:1349515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810943 Gchfr GTP cyclohydrolase I feedback regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8810943 Gchfr GTP cyclohydrolase I feedback regulator gene DOID:9256 colorectal cancer ISO RGD:1349515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8810951 Hoxc10 homeobox C10 gene DOID:630 genetic disease ISO RGD:1316332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810951 Hoxc10 homeobox C10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8810951 Hoxc10 homeobox C10 gene DOID:9004998 Kyphoscoliosis ISO RGD:1307250 D RGD:9068941 20200609 RGD mRNA:decreased expression:verterbra PMID:18327665|REF_RGD_ID:11354896 8810957 Pdgfrl platelet derived growth factor receptor like gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1317560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8810957 Pdgfrl platelet derived growth factor receptor like gene DOID:1520 colon carcinoma ISO RGD:1317560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:7898930 8810957 Pdgfrl platelet derived growth factor receptor like gene DOID:630 genetic disease ISO RGD:1317560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810957 Pdgfrl platelet derived growth factor receptor like gene DOID:684 hepatocellular carcinoma ISO RGD:1317560 D RGD:7240710 20180130 OMIM 8810957 Pdgfrl platelet derived growth factor receptor like gene DOID:684 hepatocellular carcinoma ISO RGD:1317560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:7898930 8810957 Pdgfrl platelet derived growth factor receptor like gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317560 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8810957 Pdgfrl platelet derived growth factor receptor like gene DOID:9256 colorectal cancer ISO RGD:1317560 D RGD:7240710 20200226 OMIM 8810968 Rbfa ribosome binding factor A gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323615 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8810968 Rbfa ribosome binding factor A gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1323615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8810968 Rbfa ribosome binding factor A gene DOID:630 genetic disease ISO RGD:1323615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8810968 Rbfa ribosome binding factor A gene DOID:6420 pulmonary valve stenosis ISO RGD:1323615 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8810968 Rbfa ribosome binding factor A gene DOID:8445 intestinal volvulus ISO RGD:1323615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8810968 Rbfa ribosome binding factor A gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1323615 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8810968 Rbfa ribosome binding factor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8810968 Rbfa ribosome binding factor A gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8810979 LOC102028874 cytochrome P450 2U1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319774 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8810979 LOC102028874 cytochrome P450 2U1 gene DOID:0110808 hereditary spastic paraplegia 56 ISO RGD:1319774 D RGD:7240710 20180130 OMIM 8810979 LOC102028874 cytochrome P450 2U1 gene DOID:0110808 hereditary spastic paraplegia 56 ISO RGD:1319774 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 PMID:14660610|PMID:23176821|PMID:25558065|PMID:25741868|PMID:26914923|PMID:26936192|PMID:27292318|PMID:28492532|PMID:28600779|PMID:29034544|PMID:32860008|PMID:33107650|PMID:615030 8810979 LOC102028874 cytochrome P450 2U1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868 8810979 LOC102028874 cytochrome P450 2U1 gene DOID:1826 epilepsy ISO RGD:1319774 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8810979 LOC102028874 cytochrome P450 2U1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14660610|PMID:23176821|PMID:25741868|PMID:28492532|PMID:29034544|PMID:33107650 8810979 LOC102028874 cytochrome P450 2U1 gene DOID:607 paraplegia ISO RGD:1319774 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:14660610|PMID:16199547|PMID:23176821|PMID:25558065|PMID:25741868|PMID:26914923|PMID:26936192|PMID:27292318|PMID:28492532|PMID:28600779|PMID:29034544|PMID:33107650|PMID:615030 8810979 LOC102028874 cytochrome P450 2U1 gene DOID:630 genetic disease ISO RGD:1319774 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23176821|PMID:25741868|PMID:26936192|PMID:27292318|PMID:28492532|PMID:33107650 8810979 LOC102028874 cytochrome P450 2U1 gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1319774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:28492532 8810979 LOC102028874 cytochrome P450 2U1 gene DOID:9006534 Nervous System Malformations ISO RGD:1319774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8810979 LOC102028874 cytochrome P450 2U1 gene DOID:9008086 Developmental Disabilities ISO RGD:1319774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23176821|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29034544 8810989 Ctsb cathepsin B gene DOID:0060180 colitis ISO RGD:1558619 D RGD:9068941 20200609 RGD protein:increased activity:cecum, colon, spinal cord PMID:21802389|REF_RGD_ID:5686873 8810989 Ctsb cathepsin B gene DOID:0080000 muscular disease ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7099197 8810989 Ctsb cathepsin B gene DOID:0080322 polycystic kidney disease ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased expression:kidney proximal tubule PMID:8840269|REF_RGD_ID:5686402 8810989 Ctsb cathepsin B gene DOID:0080600 COVID-19 ISO RGD:734437 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8810989 Ctsb cathepsin B gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased activity:pancreas (rat) PMID:17723883|REF_RGD_ID:2315517 8810989 Ctsb cathepsin B gene DOID:10754 otitis media ISO RGD:621509 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear mucosa (rat) PMID:15179208|REF_RGD_ID:1342442 8810989 Ctsb cathepsin B gene DOID:10941 intracranial aneurysm ISO RGD:621509 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:Circle of Willis (rat) PMID:18635848|REF_RGD_ID:2306495 8810989 Ctsb cathepsin B gene DOID:10941 intracranial aneurysm ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral aneurysm (human) PMID:18635848|REF_RGD_ID:2306495 8810989 Ctsb cathepsin B gene DOID:11054 urinary bladder cancer ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased activity:transitional cell carcinoma (human) PMID:15183956|REF_RGD_ID:2315615 8810989 Ctsb cathepsin B gene DOID:12842 Guillain-Barre syndrome ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:11134381|REF_RGD_ID:5686395 8810989 Ctsb cathepsin B gene DOID:14004 thoracic aortic aneurysm ISO RGD:734437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 8810989 Ctsb cathepsin B gene DOID:14219 renal tubular acidosis ISO RGD:621509 D RGD:9068941 20200609 RGD protein:decreased activity:renal proximal tubule (rat) PMID:7873730|REF_RGD_ID:2315534 8810989 Ctsb cathepsin B gene DOID:1612 breast cancer ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:breast carcinoma, cytosol (human) PMID:9508185|REF_RGD_ID:2315523 8810989 Ctsb cathepsin B gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:12213722|REF_RGD_ID:5687152 8810989 Ctsb cathepsin B gene DOID:2316 brain ischemia ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased activity:cerebrum (rat) PMID:18404379|REF_RGD_ID:2315571 8810989 Ctsb cathepsin B gene DOID:2377 multiple sclerosis ISO RGD:1558619 D RGD:9068941 20200609 RGD PMID:17086443|REF_RGD_ID:5686392 8810989 Ctsb cathepsin B gene DOID:2377 multiple sclerosis ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:11134381|REF_RGD_ID:5686395 8810989 Ctsb cathepsin B gene DOID:2671 transitional cell carcinoma ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:15183956|REF_RGD_ID:2315615 8810989 Ctsb cathepsin B gene DOID:3068 glioblastoma ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 8810989 Ctsb cathepsin B gene DOID:3068 glioblastoma ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:glioma cell (human) PMID:17898873|REF_RGD_ID:2315515 8810989 Ctsb cathepsin B gene DOID:3070 high grade glioma ISO RGD:621509 D RGD:9068941 20200609 RGD PMID:17287256|REF_RGD_ID:2315520 8810989 Ctsb cathepsin B gene DOID:3454 brain infarction ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortical segment, cytoplasm (rat) PMID:19941836|REF_RGD_ID:2315502 8810989 Ctsb cathepsin B gene DOID:4450 renal cell carcinoma ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8810989 Ctsb cathepsin B gene DOID:4914 esophagus adenocarcinoma ISO RGD:734437 D RGD:9068941 20200609 RGD PMID:9770500|REF_RGD_ID:734853 8810989 Ctsb cathepsin B gene DOID:576 proteinuria ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3669494 8810989 Ctsb cathepsin B gene DOID:5844 myocardial infarction ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased activity:serum, heart (rat) PMID:19958779|REF_RGD_ID:2315501 8810989 Ctsb cathepsin B gene DOID:630 genetic disease ISO RGD:734437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8810989 Ctsb cathepsin B gene DOID:684 hepatocellular carcinoma ISO RGD:621509 D RGD:9068941 20200609 RGD PMID:15641152|REF_RGD_ID:2315605 8810989 Ctsb cathepsin B gene DOID:885 fascioliasis ISO RGD:621509 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:19696938|REF_RGD_ID:2315504 8810989 Ctsb cathepsin B gene DOID:9000918 Disease Progression ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 8810989 Ctsb cathepsin B gene DOID:9000965 Neoplasm Metastasis ISO RGD:734437 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:12589965|REF_RGD_ID:5686394 8810989 Ctsb cathepsin B gene DOID:9001542 Albuminuria ISO RGD:621509 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19023196|REF_RGD_ID:2315726 8810989 Ctsb cathepsin B gene DOID:9002304 Prostatic Neoplasms ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19503093 8810989 Ctsb cathepsin B gene DOID:9002457 Experimental Arthritis ISO RGD:621509 D RGD:9068941 20200609 RGD mRNA:increased expression:knee joint, synovium (rat) PMID:17195213|REF_RGD_ID:2315521 8810989 Ctsb cathepsin B gene DOID:9003833 Keratolytic Winter Erythema ISO RGD:734437 D RGD:7240710 20190315 OMIM 8810989 Ctsb cathepsin B gene DOID:9003833 Keratolytic Winter Erythema ISO RGD:734437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratolytic winter erythema PMID:25741868|PMID:28492532 8810989 Ctsb cathepsin B gene DOID:9004009 Reperfusion Injury ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, mitochondrion (rat) PMID:18938146|REF_RGD_ID:2315506 8810989 Ctsb cathepsin B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8810989 Ctsb cathepsin B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19700239|PMID:19747051 8810989 Ctsb cathepsin B gene DOID:9004871 Mercury Poisoning, Nervous System ISO RGD:621509 D RGD:9068941 20200609 RGD PMID:18638529|REF_RGD_ID:2315510 8810989 Ctsb cathepsin B gene DOID:9005166 Contusions ISO RGD:621509 D RGD:9068941 20211224 RGD mRNA, protein:increased expression, increased activity:gastrocnemius (rat) PMID:11788364|REF_RGD_ID:631244 8810989 Ctsb cathepsin B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621509 D RGD:9068941 20200609 RGD protein:decreased activity:glomerulus (rat) PMID:10393385|REF_RGD_ID:2315531 8810989 Ctsb cathepsin B gene DOID:9005749 Necrosis ISO RGD:734437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 8810989 Ctsb cathepsin B gene DOID:9006487 Reoviridae Infections ISO RGD:1558619 D RGD:9068941 20200609 RGD PMID:19640986|REF_RGD_ID:5686877 8810989 Ctsb cathepsin B gene DOID:9006684 Inflammatory Breast Neoplasms ISO RGD:734437 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32512068 8810989 Ctsb cathepsin B gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased activity:liver, cytosol (rat) PMID:17850215|REF_RGD_ID:2315516 8810989 Ctsb cathepsin B gene DOID:9007732 Squalene Synthase Deficiency ISO RGD:734437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squalene synthase deficiency PMID:25741868|PMID:29909962 8810989 Ctsb cathepsin B gene DOID:9008091 Optic Nerve Injuries ISO RGD:621509 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:18775855|REF_RGD_ID:2315508 8810989 Ctsb cathepsin B gene DOID:9008444 Skeletal Muscle Injuries ISO RGD:621509 D RGD:9068941 20211217 RGD protein:increased activity:gastrocnemius (rat) PMID:11788364|REF_RGD_ID:631244 8810989 Ctsb cathepsin B gene DOID:9351 diabetes mellitus onset ISO RGD:734437 D RGD:9068941 20200609 RGD DNA:transversion:cds:p.L26V (human) PMID:18706099|REF_RGD_ID:2315528 8810989 Ctsb cathepsin B gene DOID:9352 type 2 diabetes mellitus ISO RGD:734437 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet (human) PMID:19367387|REF_RGD_ID:2315527 8810989 Ctsb cathepsin B gene DOID:9452 steatotic liver disease ISO RGD:621509 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver, cytosol (rat) PMID:18452148|REF_RGD_ID:2315513 8810989 Ctsb cathepsin B gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1558619 D RGD:9068941 20200609 RGD PMID:19664906|REF_RGD_ID:2315524 8811003 Fam118a family with sequence similarity 118 member A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8811003 Fam118a family with sequence similarity 118 member A gene DOID:1059 intellectual disability ISO RGD:1345510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8811003 Fam118a family with sequence similarity 118 member A gene DOID:630 genetic disease ISO RGD:1345510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811017 Znf3 zinc finger protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8811017 Znf3 zinc finger protein 3 gene DOID:630 genetic disease ISO RGD:1348770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811067 Krt17 keratin 17 gene DOID:0050449 pachyonychia congenita ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8811067 Krt17 keratin 17 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1353171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anonychia PMID:25741868 8811067 Krt17 keratin 17 gene DOID:0111556 steatocystoma multiplex ISO RGD:1353171 D RGD:7240710 20180130 OMIM 8811067 Krt17 keratin 17 gene DOID:0111556 steatocystoma multiplex ISO RGD:1353171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple sebaceous cysts | ClinVar Annotator: match by term: Steatocystoma multiplex PMID:11886499|PMID:14714564|PMID:19470054|PMID:22336949|PMID:2248894|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:29784039|PMID:31823354|PMID:7529318|PMID:9008238|PMID:9767294 8811067 Krt17 keratin 17 gene DOID:2121 ectodermal dysplasia susceptibility ISO RGD:1353171 D RGD:9068941 20200609 RGD protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210 PMID:7539673|REF_RGD_ID:1600184 8811067 Krt17 keratin 17 gene DOID:2513 basal cell carcinoma ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20871598 8811067 Krt17 keratin 17 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8811067 Krt17 keratin 17 gene DOID:630 genetic disease ISO RGD:1353171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8811067 Krt17 keratin 17 gene DOID:9001341 Chloracne ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21237254 8811067 Krt17 keratin 17 gene DOID:9004213 Pachyonychia Congenita 2 ISO RGD:1353171 D RGD:7240710 20190327 OMIM 8811067 Krt17 keratin 17 gene DOID:9004213 Pachyonychia Congenita 2 ISO RGD:1353171 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pachyonychia congenita 2 PMID:10571744|PMID:11348474|PMID:11874497|PMID:11886499|PMID:14714564|PMID:19470054|PMID:22336949|PMID:2248894|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:29784039|PMID:31823354|PMID:3954955|PMID:7529318|PMID:7539673|PMID:9008238|PMID:9767294 8811067 Krt17 keratin 17 gene DOID:9004464 Skin Neoplasms ISO RGD:1353171 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26168014 8811067 Krt17 keratin 17 gene DOID:9008109 Sebocystomatosis ISO RGD:1353171 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sebocystomatosis PMID:22336949|PMID:2248894|PMID:25741868|PMID:28492532|PMID:31823354|PMID:7529318|PMID:9008238|PMID:9767294 8811079 Nfkbiz NFKB inhibitor zeta gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1553089 D RGD:9068941 20220825 MouseDO 8811079 Nfkbiz NFKB inhibitor zeta gene DOID:3310 atopic dermatitis ISO RGD:1553089 D RGD:9068941 20220825 MouseDO OMIM:603165 8811079 Nfkbiz NFKB inhibitor zeta gene DOID:630 genetic disease ISO RGD:1350232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811079 Nfkbiz NFKB inhibitor zeta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8811122 Atn1 atrophin 1 gene DOID:0060162 dentatorubral-pallidoluysian atrophy ISO RGD:1352790 D RGD:7240710 20180725 OMIM 8811122 Atn1 atrophin 1 gene DOID:0060162 dentatorubral-pallidoluysian atrophy ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy PMID:25741868 8811122 Atn1 atrophin 1 gene DOID:0060246 MASA syndrome ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked hydrocephalus syndrome PMID:25741868 8811122 Atn1 atrophin 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8811122 Atn1 atrophin 1 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8811122 Atn1 atrophin 1 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8811122 Atn1 atrophin 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8811122 Atn1 atrophin 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8811122 Atn1 atrophin 1 gene DOID:5419 schizophrenia ISO RGD:1352790 D RGD:9068941 20200609 RGD PMID:9184318|REF_RGD_ID:1358440 8811122 Atn1 atrophin 1 gene DOID:630 genetic disease ISO RGD:1352790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28135719|PMID:30827498 8811122 Atn1 atrophin 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352790 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10814707 8811122 Atn1 atrophin 1 gene DOID:9007455 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies ISO RGD:1352790 D RGD:7240710 20190814 OMIM 8811122 Atn1 atrophin 1 gene DOID:9007455 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies PMID:17067864|PMID:25741868|PMID:30827498 8811122 Atn1 atrophin 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8811142 Mark4 microtubule affinity regulating kinase 4 gene DOID:630 genetic disease ISO RGD:1321076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811176 Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1351197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8811176 Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1351197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811176 Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:9001924 RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE ISO RGD:1351197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic dysplasia, Ain-Naz type PMID:32591345 8811176 Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1351197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8811189 Slc6a9 solute carrier family 6 member 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 8811189 Slc6a9 solute carrier family 6 member 9 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8811189 Slc6a9 solute carrier family 6 member 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 8811189 Slc6a9 solute carrier family 6 member 9 gene DOID:10283 prostate cancer ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 8811189 Slc6a9 solute carrier family 6 member 9 gene DOID:630 genetic disease ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8811189 Slc6a9 solute carrier family 6 member 9 gene DOID:670 amphetamine abuse ISO RGD:732096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17582620 8811189 Slc6a9 solute carrier family 6 member 9 gene DOID:9007710 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ISO RGD:732096 D RGD:7240710 20190315 OMIM 8811189 Slc6a9 solute carrier family 6 member 9 gene DOID:9007710 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE ISO RGD:732096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycine encephalopathy with normal serum glycine PMID:16199547|PMID:17576681|PMID:23265383|PMID:25741868|PMID:27481395|PMID:27773429|PMID:28492532|PMID:29190063|PMID:32712301|PMID:9536098 8811189 Slc6a9 solute carrier family 6 member 9 gene DOID:9268 glycine encephalopathy ISO RGD:732097 D RGD:9068941 20220825 MouseDO OMIM:605899 8811243 Tm9sf4 transmembrane 9 superfamily member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8811243 Tm9sf4 transmembrane 9 superfamily member 4 gene DOID:630 genetic disease ISO RGD:1317150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811268 Spns1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb ISO RGD:1602314 D RGD:8554872 20231226 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 8811268 Spns1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1602314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 8811268 Spns1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:10316 pneumoconiosis ISO RGD:1602314 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8811268 Spns1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8811268 Spns1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:5419 schizophrenia ISO RGD:1602314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8811268 Spns1 SPNS lysolipid transporter 1, lysophospholipid gene DOID:630 genetic disease ISO RGD:1602314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811292 Grn granulin precursor gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluids PMID:21613335|REF_RGD_ID:5509591 8811292 Grn granulin precursor gene DOID:0050784 primary progressive multiple sclerosis susceptibility ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2879096, rs4792938(human) PMID:20463744|REF_RGD_ID:5509596 8811292 Grn granulin precursor gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1345254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:16862116|PMID:16950801|PMID:17698705|PMID:22608501|PMID:25741868|PMID:26467025|PMID:28492532 8811292 Grn granulin precursor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1345254 D RGD:7240710 20180130 OMIM 8811292 Grn granulin precursor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1345254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:12459547|PMID:12476321|PMID:16199547|PMID:16401619|PMID:16495329|PMID:16862115|PMID:16862116|PMID:1695080|PMID:16950801|PMID:16983677|PMID:16983685|PMID:17030534|PMID:17071927|PMID:17202431|PMID:17210807|PMID:17228326|PMID:17345602|PMID:17356379|PMID:17371905|PMID:17436289|PMID:17439980|PMID:17522386|PMID:17576681|PMID:17620546|PMID:17698705|PMID:17826340|PMID:17917583|PMID:17923627|PMID:17949857|PMID:17950702|PMID:17984093|PMID:18183624|PMID:18184915|PMID:18192287|PMID:18223198|PMID:18234697|PMID:18245784|PMID:18314228|PMID:18322394|PMID:18359860|PMID:18392865|PMID:18413474|PMID:18464284|PMID:18543312|PMID:18551524|PMID:18565828|PMID:18703462|PMID:18723524|PMID:18752597|PMID:18838661|PMID:18855025|PMID:19012866|PMID:19020205|PMID:19030774|PMID:19133655|PMID:19158106|PMID:19288468|PMID:19632744|PMID:19649643|PMID:19683260|PMID:19766663|PMID:19858458|PMID:19884572|PMID:20020531|PMID:20028451|PMID:20045477|PMID:20087814|PMID:20142524|PMID:20142525|PMID:20301545|PMID:20522652|PMID:20937952|PMID:20947212|PMID:21403024|PMID:21454553|PMID:21482928|PMID:21569259|PMID:21695656|PMID:21753165|PMID:21800185|PMID:21891869|PMID:22127750|PMID:22312439|PMID:22366795|PMID:22459598|PMID:22491866|PMID:22608501|PMID:22647257|PMID:22781549|PMID:22818528|PMID:22819134|PMID:22906081|PMID:22995991|PMID:23117491|PMID:23338682|PMID:23463024|PMID:23596077|PMID:23609919|PMID:23624518|PMID:23684369|PMID:23724906|PMID:23742080|PMID:23759146|PMID:23770887|PMID:23813535|PMID:23990795|PMID:24022032|PMID:24081456|PMID:24387985|PMID:24494724|PMID:24503614|PMID:24703252|PMID:24814951|PMID:25104557|PMID:25333068|PMID:25525159|PMID:25546130|PMID:25558820|PMID:25604855|PMID:25715738|PMID:25741868|PMID:25943890|PMID:26075876|PMID:26159191|PMID:26460020|PMID:26467025|PMID:26652843|PMID:26674655|PMID:26791154|PMID:26811050|PMID:26925509|PMID:27082848|PMID:27311648|PMID:27341800|PMID:27567822|PMID:27632209|PMID:27790088|PMID:27884173|PMID:27997711|PMID:28000352|PMID:28430294|PMID:28473694|PMID:28492532|PMID:28543767|PMID:28664756|PMID:28749476|PMID:29036611|PMID:29339765|PMID:29486463|PMID:29525178|PMID:29525180|PMID:29530724|PMID:29614680|PMID:29724592|PMID:29874572|PMID:30054184|PMID:30090657|PMID:30279455|PMID:30528841|PMID:30530974|PMID:30545478|PMID:30924900|PMID:30954774|PMID:30992141|PMID:31031559|PMID:31122931|PMID:31182772|PMID:31262553|PMID:31361008|PMID:31600775|PMID:31810826|PMID:31855245|PMID:31914217|PMID:31996268|PMID:32028661|PMID:32317127|PMID:32474471|PMID:32483926|PMID:32507413|PMID:32843152|PMID:33016921|PMID:33203472|PMID:33351065|PMID:33980708|PMID:34162492|PMID:34305575|PMID:34435519|PMID:34573259|PMID:35085262|PMID:35217970|PMID:35861376|PMID:35896380|PMID:6497355|PMID:9152110|PMID:9259373|PMID:9536098|PMID:9633693 8811292 Grn granulin precursor gene DOID:0080855 Parkinsonism ISO RGD:1345254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parkinsonism 8811292 Grn granulin precursor gene DOID:0081388 primary progressive aphasia ISO RGD:1345254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary progressive aphasia PMID:12794388|PMID:16862116|PMID:16950801|PMID:17202431|PMID:17210807|PMID:17439980|PMID:17522386|PMID:17698705|PMID:18183624|PMID:18245784|PMID:18392865|PMID:18551524|PMID:20087814|PMID:20142524|PMID:20522652|PMID:20947212|PMID:21454553|PMID:21482928|PMID:21891869|PMID:22127750|PMID:22608501|PMID:25741868|PMID:26467025|PMID:26791154|PMID:28492532|PMID:32507413|PMID:33203472|PMID:6497355 8811292 Grn granulin precursor gene DOID:0110732 neuronal ceroid lipofuscinosis 11 ISO RGD:1345254 D RGD:7240710 20180130 OMIM 8811292 Grn granulin precursor gene DOID:0110732 neuronal ceroid lipofuscinosis 11 ISO RGD:1345254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11 PMID:16862116|PMID:16950801|PMID:17698705|PMID:18192287|PMID:18234697|PMID:18245784|PMID:18392865|PMID:18723524|PMID:19020205|PMID:19158106|PMID:19683260|PMID:20028451|PMID:20045477|PMID:20142524|PMID:20522652|PMID:20947212|PMID:21403024|PMID:21891869|PMID:22127750|PMID:22312439|PMID:22491866|PMID:22608501|PMID:23117491|PMID:25525159|PMID:25546130|PMID:25741868|PMID:26467025|PMID:26652843|PMID:28492532|PMID:29614680|PMID:30279455|PMID:30528841|PMID:31031559|PMID:31122931|PMID:31600775|PMID:32507413|PMID:33203472|PMID:35896380 8811292 Grn granulin precursor gene DOID:10652 Alzheimer's disease ISO RGD:1345254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16199547|PMID:16862116|PMID:16950801|PMID:22608501|PMID:28492532|PMID:30279455|PMID:31031559 8811292 Grn granulin precursor gene DOID:10652 Alzheimer's disease onset ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:deletion:exon:c.154delA(human) PMID:20142525|REF_RGD_ID:5509601 8811292 Grn granulin precursor gene DOID:10652 Alzheimer's disease severity ISO RGD:62275 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:microglia, neuron: PMID:19557827|REF_RGD_ID:5509606 8811292 Grn granulin precursor gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:62275 D RGD:9068941 20220825 MouseDO OMIM:125800 | OMIM:304800 8811292 Grn granulin precursor gene DOID:12849 autistic disorder ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21892962|REF_RGD_ID:5509590 8811292 Grn granulin precursor gene DOID:1307 dementia ISO RGD:1345254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436289|PMID:18543312 8811292 Grn granulin precursor gene DOID:1307 dementia onset ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1990622(human) PMID:21220649|REF_RGD_ID:5509592 8811292 Grn granulin precursor gene DOID:14330 Parkinson's disease ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:23398167|REF_RGD_ID:10401642 8811292 Grn granulin precursor gene DOID:14330 Parkinson's disease no_association ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:*78C>T (rs5848) (human) PMID:19473366|REF_RGD_ID:10401644 8811292 Grn granulin precursor gene DOID:1824 status epilepticus ISO RGD:61983 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:23887054|REF_RGD_ID:10401660 8811292 Grn granulin precursor gene DOID:1936 atherosclerosis ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell, macrophage PMID:19321167|REF_RGD_ID:5509781 8811292 Grn granulin precursor gene DOID:2377 multiple sclerosis ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:macrophage, microglia PMID:21613335|REF_RGD_ID:5509591 8811292 Grn granulin precursor gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluids PMID:21613335|REF_RGD_ID:5509591 8811292 Grn granulin precursor gene DOID:3312 bipolar disorder ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:24581833|REF_RGD_ID:10401641 8811292 Grn granulin precursor gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1345254 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, microglia PMID:21107132|REF_RGD_ID:5509593 8811292 Grn granulin precursor gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:62275 D RGD:9068941 20200609 RGD PMID:21107132|REF_RGD_ID:5509593 8811292 Grn granulin precursor gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:18184915|REF_RGD_ID:5509619 8811292 Grn granulin precursor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:62275 D RGD:9068941 20200609 RGD PMID:23972823|REF_RGD_ID:10401661 8811292 Grn granulin precursor gene DOID:3526 cerebral infarction ISO RGD:1345254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:18723524|PMID:28492532 8811292 Grn granulin precursor gene DOID:630 genetic disease ISO RGD:1345254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12459547|PMID:16950801|PMID:17202431|PMID:17228326|PMID:17345602|PMID:17371905|PMID:17436289|PMID:17576681|PMID:17984093|PMID:18183624|PMID:18184915|PMID:18192287|PMID:18223198|PMID:18234697|PMID:18245784|PMID:18314228|PMID:18359860|PMID:18464284|PMID:18543312|PMID:18565828|PMID:18752597|PMID:18838661|PMID:19012866|PMID:19030774|PMID:19158106|PMID:19632744|PMID:19649643|PMID:20020531|PMID:20028451|PMID:20142524|PMID:21800185|PMID:22312439|PMID:22459598|PMID:22781549|PMID:22995991|PMID:23463024|PMID:23684369|PMID:23724906|PMID:23742080|PMID:23759146|PMID:23770887|PMID:23990795|PMID:24503614|PMID:25104557|PMID:25333068|PMID:25558820|PMID:25715738|PMID:25741868|PMID:26075876|PMID:26159191|PMID:26460020|PMID:26467025|PMID:26652843|PMID:26811050|PMID:26925509|PMID:27632209|PMID:27790088|PMID:27884173|PMID:27997711|PMID:28492532|PMID:28717666|PMID:29486463|PMID:29525178|PMID:29525180|PMID:30279455|PMID:32028661|PMID:32317127|PMID:32483926|PMID:32507413|PMID:34162492|PMID:34435519|PMID:35217970|PMID:35861376|PMID:9536098 8811292 Grn granulin precursor gene DOID:9000039 Spinal Cord Injuries ISO RGD:62275 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord: PMID:19946692|REF_RGD_ID:5509603 8811292 Grn granulin precursor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8811292 Grn granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154673 8811292 Grn granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA, protein:mutations, decreased expression:plasma:multiple PMID:19158106|REF_RGD_ID:10401634 8811292 Grn granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations, nonsense mutation:exon:multiple PMID:17228326|REF_RGD_ID:10401647 8811292 Grn granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:22797721|REF_RGD_ID:10401637 8811292 Grn granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:mutation:intron:IVS6-1G>A (human) PMID:17950702|REF_RGD_ID:10401638 8811292 Grn granulin precursor gene DOID:9002031 Frontotemporal Lobar Degeneration onset ISO RGD:1345254 D RGD:9068941 20200609 RGD DNA:SNP: :rs9897526 (human) PMID:18192287|REF_RGD_ID:10401650 8811292 Grn granulin precursor gene DOID:9002457 Experimental Arthritis ISO RGD:62275 D RGD:9068941 20200609 RGD PMID:21393509|REF_RGD_ID:5509782 8811292 Grn granulin precursor gene DOID:9002955 Nerve Degeneration ISO RGD:1345254 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21820214 8811292 Grn granulin precursor gene DOID:9007096 Stroke ISO RGD:1345254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:18723524|PMID:28492532 8811292 Grn granulin precursor gene DOID:9255 frontotemporal dementia ISO RGD:1345254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: GRN-Related Frontotemporal Dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:16199547|PMID:16862116|PMID:16950801|PMID:17030534|PMID:18192287|PMID:18234697|PMID:18723524|PMID:19020205|PMID:19158106|PMID:19683260|PMID:20028451|PMID:20045477|PMID:20142524|PMID:21403024|PMID:22491866|PMID:22608501|PMID:23463024|PMID:25741868|PMID:26467025|PMID:26652843|PMID:28430294|PMID:28492532|PMID:28749476|PMID:29724592|PMID:30054184|PMID:30279455|PMID:30992141|PMID:31031559|PMID:31600775|PMID:35896380 8811326 Pdc phosducin gene DOID:1540 parathyroid carcinoma ISO RGD:737392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8811326 Pdc phosducin gene DOID:630 genetic disease ISO RGD:737392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811326 Pdc phosducin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8811340 Nrl neural retina leucine zipper gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8811340 Nrl neural retina leucine zipper gene DOID:0090059 enhanced S-cone syndrome ISO RGD:1313083 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Enhanced S-cone syndrome PMID:11694879|PMID:15591106|PMID:25741868|PMID:27732723|PMID:28492532|PMID:31456290 8811340 Nrl neural retina leucine zipper gene DOID:0110397 retinitis pigmentosa 27 ISO RGD:1313083 D RGD:7240710 20180130 OMIM 8811340 Nrl neural retina leucine zipper gene DOID:0110397 retinitis pigmentosa 27 ISO RGD:1313083 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 27 PMID:10192380|PMID:11039579|PMID:11385710|PMID:11694879|PMID:11879142|PMID:12796249|PMID:15591106|PMID:17335001|PMID:17374726|PMID:21981118|PMID:22334370|PMID:25412400|PMID:25741868|PMID:27732723|PMID:28492532|PMID:29385733|PMID:31456290|PMID:36819107 8811340 Nrl neural retina leucine zipper gene DOID:10584 retinitis pigmentosa ISO RGD:1313083 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:27081294|PMID:27624628|PMID:28492532|PMID:29385733|PMID:34906470 8811340 Nrl neural retina leucine zipper gene DOID:630 genetic disease ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8811340 Nrl neural retina leucine zipper gene DOID:8466 retinal degeneration ISO RGD:1313083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15591106 8811340 Nrl neural retina leucine zipper gene DOID:8499 night blindness ISO RGD:1313083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12796249|PMID:15591106 8811340 Nrl neural retina leucine zipper gene DOID:8501 fundus dystrophy ISO RGD:1313083 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11385710|PMID:17335001|PMID:21981118|PMID:22334370|PMID:25741868|PMID:28492532|PMID:29385733|PMID:36819107 8811340 Nrl neural retina leucine zipper gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313083 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8811340 Nrl neural retina leucine zipper gene DOID:9000520 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial ISO RGD:1313083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCK2-related condition | ClinVar Annotator: match by term: PCK2-related neuropathy | ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial PMID:24033266|PMID:25741868|PMID:28492532 8811340 Nrl neural retina leucine zipper gene DOID:9001923 Foveal Hypoplasia ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:25741868|PMID:28492532|PMID:29385733 8811340 Nrl neural retina leucine zipper gene DOID:9002610 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type ISO RGD:1313083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal degeneration, autosomal recessive, clumped pigment type PMID:11694879|PMID:15591106|PMID:17335001|PMID:25412400|PMID:25741868|PMID:28492532 8811340 Nrl neural retina leucine zipper gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313083 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8811354 Hectd2 HECT domain E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1313620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811379 Tmem233 transmembrane protein 233 gene DOID:630 genetic disease ISO RGD:2923596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:0080074 neural tube defect ISO RGD:733293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:733294 D RGD:9068941 20200609 RGD PMID:11535810|REF_RGD_ID:13503334 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:11832 visual epilepsy ISO RGD:620575 D RGD:9068941 20200609 RGD protein:increased activity:hippocampus PMID:11753565|REF_RGD_ID:2325750 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:14330 Parkinson's disease ISO RGD:733293 D RGD:9068941 20200609 RGD PMID:24835407|REF_RGD_ID:13503333 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:1793 pancreatic cancer ISO RGD:733293 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:17224646|REF_RGD_ID:2325739 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:219 colon cancer treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:22369161|REF_RGD_ID:13703116 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:2316 brain ischemia ISO RGD:620575 D RGD:9068941 20200609 RGD protein:increased expression:striatum PMID:17640469|REF_RGD_ID:2325742 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:3490 Noonan syndrome ISO RGD:733294 D RGD:9068941 20220825 MouseDO 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:24012531|REF_RGD_ID:13703113 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733293 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:28982084|REF_RGD_ID:13703106 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:4450 renal cell carcinoma ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:5327 retinal detachment ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:630 genetic disease ISO RGD:733293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:767 muscular atrophy ISO RGD:620575 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle tissue PMID:17029665|REF_RGD_ID:2325745 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:21748659|REF_RGD_ID:10053608 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9000998 Brain Injuries ISO RGD:620575 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:11567033|REF_RGD_ID:2325751 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:27748062|REF_RGD_ID:13703108 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:22143029|REF_RGD_ID:5686888 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9001946 Skin Abnormalities ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9753320 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:18205898|REF_RGD_ID:2292105 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:14973070|REF_RGD_ID:2325748 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9005465 Renal Ischemia treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:25330150|REF_RGD_ID:13703111 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620575 D RGD:9068941 20200609 RGD PMID:26362957|REF_RGD_ID:13703110 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9008296 Eye Abnormalities ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9753320 8811398 Apaf1 apoptotic peptidase activating factor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9753320|PMID:9753321 8811433 Znf853 zinc finger protein 853 gene DOID:630 genetic disease ISO RGD:2302454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811458 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:2301592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8811458 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:2301592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 8811458 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:2301592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8811458 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:1059 intellectual disability ISO RGD:2301592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8811458 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:2301592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8811458 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:630 genetic disease ISO RGD:2301592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811458 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2301592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8811458 Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:2301592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8811467 Ddx42 DEAD-box helicase 42 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1312619 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow mononuclear cell (human) PMID:16211284|REF_RGD_ID:9850279 8811467 Ddx42 DEAD-box helicase 42 gene DOID:630 genetic disease ISO RGD:1312619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811467 Ddx42 DEAD-box helicase 42 gene DOID:9007346 Cachexia ISO RGD:1304909 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:gastrocnemius muscle (rat) PMID:14718385|REF_RGD_ID:1641826 8811467 Ddx42 DEAD-box helicase 42 gene DOID:9007346 Cachexia ISO RGD:1312620 D RGD:9068941 20200609 RGD associated with Malnutrition;mRNA:increased expression:gastrocnemius muscle (mouse) PMID:14718385|REF_RGD_ID:1641826 8811495 Cfap91 cilia and flagella associated protein 91 gene DOID:0111919 spermatogenic failure 38 ISO RGD:1346781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility with teratozoospermia due to single gene mutation PMID:32161152 8811495 Cfap91 cilia and flagella associated protein 91 gene DOID:0112273 spermatogenic failure 51 ISO RGD:1346781 D RGD:7240710 20210303 OMIM 8811495 Cfap91 cilia and flagella associated protein 91 gene DOID:0112273 spermatogenic failure 51 ISO RGD:1346781 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 51 PMID:25741868|PMID:32161152 8811495 Cfap91 cilia and flagella associated protein 91 gene DOID:630 genetic disease ISO RGD:1346781 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811523 Cfap58 cilia and flagella associated protein 58 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1621194 D RGD:9068941 20220825 MouseDO 8811523 Cfap58 cilia and flagella associated protein 58 gene DOID:0112271 spermatogenic failure 49 ISO RGD:1317458 D RGD:7240710 20210113 OMIM 8811523 Cfap58 cilia and flagella associated protein 58 gene DOID:0112271 spermatogenic failure 49 ISO RGD:1317458 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 49 PMID:25741868|PMID:32791035 8811523 Cfap58 cilia and flagella associated protein 58 gene DOID:630 genetic disease ISO RGD:1317458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:10652 Alzheimer's disease ISO RGD:1343923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:735196 D RGD:9068941 20200609 RGD protein:increased expression:intervertebral disk PMID:23192728|REF_RGD_ID:10043113 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:630 genetic disease ISO RGD:1343923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1343923 D RGD:9068941 20200609 RGD protein:alternative form:synovium PMID:11801682|REF_RGD_ID:10043106 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis ISO RGD:1343923 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R614H (human) PMID:22961118|REF_RGD_ID:10043102 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis ISO RGD:1343923 D RGD:9068941 20200609 RGD protein:alternative form:synovium PMID:11801682|REF_RGD_ID:10043106 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis ISO RGD:1552871 D RGD:9068941 20200609 RGD PMID:23982761|REF_RGD_ID:10043101 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis ISO RGD:735196 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:17530714|REF_RGD_ID:2300093 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis disease_progression ISO RGD:1552871 D RGD:9068941 20200609 RGD PMID:23954517|REF_RGD_ID:10043107 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis no_association ISO RGD:1343923 D RGD:9068941 20200609 RGD DNA:missense mutations:exon: (rs226794, rs2830585) (human) PMID:18240210|REF_RGD_ID:10043105 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis treatment ISO RGD:1552871 D RGD:9068941 20200609 RGD PMID:22084394|REF_RGD_ID:10003165 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis treatment ISO RGD:1552871 D RGD:9068941 20200609 RGD associated with Bone Diseases, Metabolic PMID:22432033|REF_RGD_ID:10043110 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:8398 osteoarthritis treatment ISO RGD:735196 D RGD:9068941 20200609 RGD PMID:23546441|REF_RGD_ID:10043103 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:90 degenerative disc disease ISO RGD:735196 D RGD:9068941 20200609 RGD PMID:22394620|REF_RGD_ID:10043115 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:90 degenerative disc disease ISO RGD:735196 D RGD:9068941 20200609 RGD mRNA:increased expression:intervertebral disk of cervical vertebra PMID:20948465|REF_RGD_ID:8661231 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9005369 Hepatomegaly ISO RGD:1343923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:735196 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:22670655|REF_RGD_ID:10043109 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:1343923 D RGD:9068941 20200609 RGD PMID:18830934|REF_RGD_ID:10043108 8811549 Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 gene DOID:9006281 Temporomandibular Joint Disorders severity ISO RGD:1552871 D RGD:9068941 20200609 RGD mRNA:increased expression:temporomandibular joint PMID:24316289|REF_RGD_ID:10043104 8811564 Crmp1 collapsin response mediator protein 1 gene DOID:630 genetic disease ISO RGD:731741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811564 Crmp1 collapsin response mediator protein 1 gene DOID:6678 tooth and nail syndrome ISO RGD:731741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 8811588 Nr2f1 nuclear receptor subfamily 2 group F member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8811588 Nr2f1 nuclear receptor subfamily 2 group F member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732429 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8811588 Nr2f1 nuclear receptor subfamily 2 group F member 1 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:732429 D RGD:7240710 20180130 OMIM 8811588 Nr2f1 nuclear receptor subfamily 2 group F member 1 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:732429 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:18414213|PMID:24462372|PMID:25326637|PMID:25741868|PMID:25741869|PMID:25741879|PMID:26138355|PMID:26350515|PMID:26986877|PMID:28492532|PMID:28963436|PMID:29410510|PMID:30755392|PMID:31393201|PMID:31729143|PMID:32275123|PMID:32407885|PMID:32712214|PMID:34466801 8811588 Nr2f1 nuclear receptor subfamily 2 group F member 1 gene DOID:1826 epilepsy ISO RGD:732429 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 8811588 Nr2f1 nuclear receptor subfamily 2 group F member 1 gene DOID:5119 ovarian cyst ISO RGD:732429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8811588 Nr2f1 nuclear receptor subfamily 2 group F member 1 gene DOID:630 genetic disease ISO RGD:732429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26986877|PMID:28492532|PMID:32275123 8811588 Nr2f1 nuclear receptor subfamily 2 group F member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8811588 Nr2f1 nuclear receptor subfamily 2 group F member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732429 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8811588 Nr2f1 nuclear receptor subfamily 2 group F member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8811588 Nr2f1 nuclear receptor subfamily 2 group F member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11850205 8811601 Dapp1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 gene DOID:0080600 COVID-19 ISO RGD:1320943 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8811601 Dapp1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 gene DOID:630 genetic disease ISO RGD:1320943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811601 Dapp1 dual adaptor of phosphotyrosine and 3-phosphoinositides 1 gene DOID:8398 osteoarthritis ISO RGD:1320943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8811620 Myh11 myosin heavy chain 11 gene DOID:0050453 lissencephaly ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28166811|PMID:28492532|PMID:31664448 8811620 Myh11 myosin heavy chain 11 gene DOID:0050453 lissencephaly ISO RGD:737424 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:24033266|PMID:25741868|PMID:26017485|PMID:26436109|PMID:28492532|PMID:28679693|PMID:30122538|PMID:31664448 8811620 Myh11 myosin heavy chain 11 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:737424 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29961567|PMID:7923625 8811620 Myh11 myosin heavy chain 11 gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737424 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:25407000 8811620 Myh11 myosin heavy chain 11 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:737424 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Visceral myopathy PMID:25407000|PMID:25741868|PMID:31389005 8811620 Myh11 myosin heavy chain 11 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:28492532 8811620 Myh11 myosin heavy chain 11 gene DOID:0080600 COVID-19 ISO RGD:737424 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8811620 Myh11 myosin heavy chain 11 gene DOID:0080682 autosomal dominant familial visceral neuropathy ISO RGD:737424 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:25407000 8811620 Myh11 myosin heavy chain 11 gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:737424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10958941 8811620 Myh11 myosin heavy chain 11 gene DOID:0112235 lissencephaly 4 ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8811620 Myh11 myosin heavy chain 11 gene DOID:12849 autistic disorder ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8811620 Myh11 myosin heavy chain 11 gene DOID:13832 patent ductus arteriosus ISO RGD:737424 D RGD:9068941 20200609 RGD PMID:16444274|REF_RGD_ID:1580903 8811620 Myh11 myosin heavy chain 11 gene DOID:13832 patent ductus arteriosus ISO RGD:737424 D RGD:9068941 20230202 RGD DNA:mutation:cds:c.4599+1delG (human) PMID:27418595|REF_RGD_ID:155883161 8811620 Myh11 myosin heavy chain 11 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737424 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33824467|PMID:7923625|PMID:9536098 8811620 Myh11 myosin heavy chain 11 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737424 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:35830949|PMID:7923625|PMID:9536098 8811620 Myh11 myosin heavy chain 11 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737424 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:35276540|PMID:35372177|PMID:35830949|PMID:7923625|PMID:9536098 8811620 Myh11 myosin heavy chain 11 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737424 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21937134|PMID:22001912|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30122538|PMID:30675029|PMID:30684648|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35276540|PMID:35372177|PMID:35393538|PMID:35830949|PMID:36973604|PMID:37298070|PMID:7923625|PMID:9536098 8811620 Myh11 myosin heavy chain 11 gene DOID:14323 Marfan syndrome ISO RGD:737424 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:25944730|PMID:28492532 8811620 Myh11 myosin heavy chain 11 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:25741868|PMID:28492532 8811620 Myh11 myosin heavy chain 11 gene DOID:1826 epilepsy ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8811620 Myh11 myosin heavy chain 11 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:11439001|PMID:16541094 8811620 Myh11 myosin heavy chain 11 gene DOID:3627 aortic aneurysm ISO RGD:737424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm | ClinVar Annotator: match by term: Aortic dilatation PMID:22001912|PMID:25741868|PMID:28492532 8811620 Myh11 myosin heavy chain 11 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868 8811620 Myh11 myosin heavy chain 11 gene DOID:4080 tricuspid valve insufficiency ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tricuspid regurgitation PMID:25741868 8811620 Myh11 myosin heavy chain 11 gene DOID:520 aortic disease ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 8811620 Myh11 myosin heavy chain 11 gene DOID:5419 schizophrenia ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8811620 Myh11 myosin heavy chain 11 gene DOID:630 genetic disease ISO RGD:737424 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27146836|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29961567|PMID:7923625|PMID:8316857|PMID:9536098 8811620 Myh11 myosin heavy chain 11 gene DOID:6420 pulmonary valve stenosis ISO RGD:737424 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25741868|PMID:28492532|PMID:34498425 8811620 Myh11 myosin heavy chain 11 gene DOID:65 connective tissue disease ISO RGD:737424 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22001912|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26792327|PMID:27153395|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29543232|PMID:29907982|PMID:29961567|PMID:32238909|PMID:32368696|PMID:35276540|PMID:35393538|PMID:35830949|PMID:7923625|PMID:9536098 8811620 Myh11 myosin heavy chain 11 gene DOID:7693 abdominal aortic aneurysm ISO RGD:737424 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:30004237|REF_RGD_ID:13782270 8811620 Myh11 myosin heavy chain 11 gene DOID:8445 intestinal volvulus ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8811620 Myh11 myosin heavy chain 11 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:737424 D RGD:7240710 20180130 OMIM 8811620 Myh11 myosin heavy chain 11 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:737424 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:10199307|PMID:10854329|PMID:11249915|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:18796164|PMID:20226094|PMID:20734336|PMID:21521776|PMID:21698135|PMID:21937134|PMID:22001912|PMID:22318994|PMID:22511748|PMID:22955375|PMID:22968129|PMID:23099432|PMID:23142374|PMID:23696586|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25500235|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25839328|PMID:25944730|PMID:26000489|PMID:26017485|PMID:26077850|PMID:26133393|PMID:26188975|PMID:26332594|PMID:26436109|PMID:26467025|PMID:26792327|PMID:27081537|PMID:27146836|PMID:27149842|PMID:27153395|PMID:27367753|PMID:27418595|PMID:27611364|PMID:27879251|PMID:27884122|PMID:28074631|PMID:28074886|PMID:28166811|PMID:28367076|PMID:28469501|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28855619|PMID:29179725|PMID:29441698|PMID:29494672|PMID:29510914|PMID:29543232|PMID:29575632|PMID:29650765|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30122538|PMID:30675029|PMID:30684648|PMID:30739908|PMID:30885847|PMID:31473177|PMID:31664448|PMID:31731876|PMID:31785789|PMID:31916526|PMID:31977013|PMID:32081817|PMID:32233023|PMID:32238909|PMID:32368696|PMID:32600061|PMID:33726816|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35276540|PMID:35372177|PMID:35393538|PMID:35535697|PMID:35830949|PMID:36973604|PMID:37298070|PMID:7923625|PMID:9536098 8811620 Myh11 myosin heavy chain 11 gene DOID:9000924 Gastrointestinal Motility Disorders ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal and colonic dysmotility PMID:18391202 8811620 Myh11 myosin heavy chain 11 gene DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 ISO RGD:737424 D RGD:7240710 20210616 OMIM 8811620 Myh11 myosin heavy chain 11 gene DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 ISO RGD:737424 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:20734336|PMID:21521776|PMID:22001912|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28469501|PMID:28492532|PMID:29494672|PMID:29543232|PMID:29575632|PMID:29907982|PMID:29961567|PMID:30684648|PMID:30739908|PMID:30885847|PMID:32238909|PMID:33726816|PMID:34498425|PMID:35276540|PMID:35393538|PMID:7923625|PMID:9536098 8811620 Myh11 myosin heavy chain 11 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 8811620 Myh11 myosin heavy chain 11 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:737424 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:25944730|PMID:28492532 8811620 Myh11 myosin heavy chain 11 gene DOID:9007096 Stroke ISO RGD:737424 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 8811620 Myh11 myosin heavy chain 11 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:737424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 8811620 Myh11 myosin heavy chain 11 gene DOID:9008419 Volvulus Of Midgut ISO RGD:737424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8811620 Myh11 myosin heavy chain 11 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:737424 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:10199307|PMID:10854329|PMID:14722581|PMID:16444274|PMID:17666408|PMID:17956658|PMID:20734336|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28492532|PMID:29494672|PMID:29961567|PMID:33726816|PMID:7923625 8811620 Myh11 myosin heavy chain 11 gene DOID:9009175 Visceral Myopathy 2 ISO RGD:737424 D RGD:7240710 20210616 OMIM 8811620 Myh11 myosin heavy chain 11 gene DOID:9009175 Visceral Myopathy 2 ISO RGD:737424 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2 PMID:10199307|PMID:10854329|PMID:14722581|PMID:16199547|PMID:16444274|PMID:17576681|PMID:17666408|PMID:17956658|PMID:18391202|PMID:20734336|PMID:21521776|PMID:22001912|PMID:22511748|PMID:22968129|PMID:24033266|PMID:24337657|PMID:24676022|PMID:25110237|PMID:25407000|PMID:25424711|PMID:25433566|PMID:25741868|PMID:26017485|PMID:26332594|PMID:26792327|PMID:27418595|PMID:27879251|PMID:28469501|PMID:28492532|PMID:29494672|PMID:29543232|PMID:29575632|PMID:29907982|PMID:29961567|PMID:30684648|PMID:30739908|PMID:30885847|PMID:31389005|PMID:32238909|PMID:33726816|PMID:34498425|PMID:35276540|PMID:35393538|PMID:7923625|PMID:9536098 8811620 Myh11 myosin heavy chain 11 gene DOID:9119 acute myeloid leukemia ISO RGD:737424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229|PMID:27798625 8811681 Angptl1 angiopoietin like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8811681 Angptl1 angiopoietin like 1 gene DOID:630 genetic disease ISO RGD:1347249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811681 Angptl1 angiopoietin like 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8811681 Angptl1 angiopoietin like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8811717 Kdm2a lysine demethylase 2A gene DOID:1059 intellectual disability ISO RGD:1319753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8811717 Kdm2a lysine demethylase 2A gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319753 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24482232|REF_RGD_ID:9588265 8811717 Kdm2a lysine demethylase 2A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1319753 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach (human) PMID:24200691|REF_RGD_ID:9588263 8811717 Kdm2a lysine demethylase 2A gene DOID:6000 congestive heart failure ISO RGD:1616561 D RGD:9068941 20200609 RGD protein:altered localization:promoter (mouse) PMID:25181347|REF_RGD_ID:9588275 8811717 Kdm2a lysine demethylase 2A gene DOID:630 genetic disease ISO RGD:1319753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811717 Kdm2a lysine demethylase 2A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319753 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8811717 Kdm2a lysine demethylase 2A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8811717 Kdm2a lysine demethylase 2A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8811717 Kdm2a lysine demethylase 2A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8811747 Aoc1 amine oxidase copper containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732341 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8811747 Aoc1 amine oxidase copper containing 1 gene DOID:10763 hypertension ISO RGD:732341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6218830 8811747 Aoc1 amine oxidase copper containing 1 gene DOID:2843 long QT syndrome ISO RGD:732341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 8811747 Aoc1 amine oxidase copper containing 1 gene DOID:630 genetic disease ISO RGD:732341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8811747 Aoc1 amine oxidase copper containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732342 D RGD:9068941 20200609 RGD PMID:16895983|REF_RGD_ID:2315591 8811747 Aoc1 amine oxidase copper containing 1 gene DOID:9003936 Cardiomegaly ISO RGD:732341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6218830 8811747 Aoc1 amine oxidase copper containing 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61296 D RGD:9068941 20200609 RGD PMID:1632778|REF_RGD_ID:2312809 8811802 Asic2 acid sensing ion channel subunit 2 gene DOID:10283 prostate cancer ISO RGD:737359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8811802 Asic2 acid sensing ion channel subunit 2 gene DOID:12849 autistic disorder ISO RGD:737359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376794 8811802 Asic2 acid sensing ion channel subunit 2 gene DOID:630 genetic disease ISO RGD:737359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811802 Asic2 acid sensing ion channel subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8811802 Asic2 acid sensing ion channel subunit 2 gene DOID:9005372 Inflammation ISO RGD:737359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 8811821 Morn4 MORN repeat containing 4 gene DOID:630 genetic disease ISO RGD:1316472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811862 Npbwr1 neuropeptides B and W receptor 1 gene DOID:5419 schizophrenia ISO RGD:1314235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8811862 Npbwr1 neuropeptides B and W receptor 1 gene DOID:630 genetic disease ISO RGD:1314235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811892 Myog myogenin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8811892 Myog myogenin gene DOID:1540 parathyroid carcinoma ISO RGD:736712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8811892 Myog myogenin gene DOID:630 genetic disease ISO RGD:736712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811892 Myog myogenin gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620432 D RGD:9068941 20200609 RGD PMID:23781298|REF_RGD_ID:9686078 8811892 Myog myogenin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736712 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8811892 Myog myogenin gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:620432 D RGD:9068941 20200609 RGD PMID:1312030|REF_RGD_ID:9686077 8811892 Myog myogenin gene DOID:9008444 Skeletal Muscle Injuries ISO RGD:620432 D RGD:9068941 20200609 RGD mRNA:increased expression:diaphragm PMID:15738284|REF_RGD_ID:9686134 8811892 Myog myogenin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8811892 Myog myogenin gene DOID:9970 obesity ISO RGD:620432 D RGD:9068941 20200609 RGD mRNA:decreased expression:plantaris PMID:18508911|REF_RGD_ID:2313320 8811905 Qtrt2 queuine tRNA-ribosyltransferase accessory subunit 2 gene DOID:630 genetic disease ISO RGD:1320734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811923 Ubxn4 UBX domain protein 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1316650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 8811923 Ubxn4 UBX domain protein 4 gene DOID:630 genetic disease ISO RGD:1316650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811939 Dus2 dihydrouridine synthase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8811939 Dus2 dihydrouridine synthase 2 gene DOID:630 genetic disease ISO RGD:1603040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811959 Edar ectodysplasin A receptor gene DOID:0050591 tooth agenesis ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:23210707 8811959 Edar ectodysplasin A receptor gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:10431241|PMID:18231121|PMID:20236127|PMID:20979233|PMID:25741868|PMID:28492532 8811959 Edar ectodysplasin A receptor gene DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 8811959 Edar ectodysplasin A receptor gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11035039|PMID:15013427|PMID:16435307|PMID:18231121|PMID:20979233|PMID:23401279|PMID:25741868|PMID:27657131|PMID:28492532 8811959 Edar ectodysplasin A receptor gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1344202 D RGD:7240710 20180130 OMIM 8811959 Edar ectodysplasin A receptor gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1344202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant PMID:10431241|PMID:10431242|PMID:11035039|PMID:15013427|PMID:16029325|PMID:16199547|PMID:16435307|PMID:17125505|PMID:17576681|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18854857|PMID:19438931|PMID:20236127|PMID:20979233|PMID:21771270|PMID:21876339|PMID:22032522|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24641098|PMID:24884697|PMID:25741868|PMID:26077850|PMID:26336973|PMID:27305980|PMID:27657131|PMID:28265457|PMID:28492532|PMID:28981473|PMID:32274043|PMID:32325225|PMID:33205897|PMID:9536098 8811959 Edar ectodysplasin A receptor gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1344202 D RGD:7240710 20180130 OMIM 8811959 Edar ectodysplasin A receptor gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1344202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11279189|PMID:15373768|PMID:16435307|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18816645|PMID:20236127|PMID:20979233|PMID:22032522|PMID:24033266|PMID:25741868|PMID:28492532 8811959 Edar ectodysplasin A receptor gene DOID:10754 otitis media treatment ISO RGD:1557662 D RGD:9068941 20200609 RGD PMID:31028034|REF_RGD_ID:14398763 8811959 Edar ectodysplasin A receptor gene DOID:13714 anodontia ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic oligodontia PMID:10431241|PMID:17125505|PMID:18065779|PMID:18561327|PMID:18704500|PMID:24884697|PMID:25741868|PMID:26336973|PMID:27305980|PMID:28492532 8811959 Edar ectodysplasin A receptor gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1344202 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:18065779|PMID:18561327|PMID:18704500|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28808699 8811959 Edar ectodysplasin A receptor gene DOID:2121 ectodermal dysplasia ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant PMID:16435307|PMID:18065779|PMID:18561327|PMID:18704500|PMID:18816645|PMID:23210707|PMID:24033266|PMID:25741868|PMID:28492532 8811959 Edar ectodysplasin A receptor gene DOID:630 genetic disease ISO RGD:1344202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23401279|PMID:28492532 8811959 Edar ectodysplasin A receptor gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1344202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 8811974 Ggt6 gamma-glutamyltransferase 6 gene DOID:630 genetic disease ISO RGD:1603275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8811986 Tubd1 tubulin delta 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1323696 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8811986 Tubd1 tubulin delta 1 gene DOID:630 genetic disease ISO RGD:1323696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812013 Fbxo34 F-box protein 34 gene DOID:630 genetic disease ISO RGD:1320823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812030 Opn5 opsin 5 gene DOID:630 genetic disease ISO RGD:737573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812040 Lrrn3 leucine rich repeat neuronal 3 gene DOID:0060041 autism spectrum disorder ISO RGD:734364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20678249 8812040 Lrrn3 leucine rich repeat neuronal 3 gene DOID:0111275 speech-language disorder-1 ISO RGD:734364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:25422445 8812040 Lrrn3 leucine rich repeat neuronal 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8812040 Lrrn3 leucine rich repeat neuronal 3 gene DOID:5419 schizophrenia ISO RGD:734364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8812040 Lrrn3 leucine rich repeat neuronal 3 gene DOID:630 genetic disease ISO RGD:734364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812046 Capn1 calpain 1 gene DOID:0081292 traumatic brain injury ISO RGD:2267 D RGD:9068941 20200609 RGD protein:increased expression:cytosol, plasma membrane PMID:9469158|REF_RGD_ID:13792664 8812046 Capn1 calpain 1 gene DOID:0110821 hereditary spastic paraplegia 76 ISO RGD:736980 D RGD:7240710 20190315 OMIM 8812046 Capn1 calpain 1 gene DOID:0110821 hereditary spastic paraplegia 76 ISO RGD:736980 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 PMID:17576681|PMID:25741868|PMID:27153400|PMID:27320912|PMID:28492532|PMID:28566166|PMID:29379883|PMID:30198554|PMID:32214227|PMID:32860008|PMID:33486633|PMID:9536098 8812046 Capn1 calpain 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8812046 Capn1 calpain 1 gene DOID:10230 aortic atherosclerosis ISO RGD:2267 D RGD:9068941 20200609 RGD protein:increased activity:aorta PMID:23006733|REF_RGD_ID:13792498 8812046 Capn1 calpain 1 gene DOID:1059 intellectual disability ISO RGD:736980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8812046 Capn1 calpain 1 gene DOID:10652 Alzheimer's disease ISO RGD:736980 D RGD:9068941 20200609 RGD protein:increased activity:brain: PMID:11231011|REF_RGD_ID:13792663 8812046 Capn1 calpain 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736980 D RGD:9068941 20200609 RGD PMID:8622780|REF_RGD_ID:13792495 8812046 Capn1 calpain 1 gene DOID:11446 sciatic neuropathy ISO RGD:2267 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle tissue of tibialis anterior PMID:24745757|REF_RGD_ID:13792589 8812046 Capn1 calpain 1 gene DOID:1210 optic neuritis ISO RGD:736980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23860028 8812046 Capn1 calpain 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736980 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19266085 8812046 Capn1 calpain 1 gene DOID:1826 epilepsy treatment ISO RGD:2267 D RGD:9068941 20200609 RGD PMID:25924429|REF_RGD_ID:13792591 8812046 Capn1 calpain 1 gene DOID:1909 melanoma ISO RGD:736980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8812046 Capn1 calpain 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8812046 Capn1 calpain 1 gene DOID:2746 glycogen storage disease V ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8812046 Capn1 calpain 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2267 D RGD:9068941 20200609 RGD associated with Rhabdomyolysis; PMID:24158126|REF_RGD_ID:13792553 8812046 Capn1 calpain 1 gene DOID:3070 high grade glioma ISO RGD:736980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8812046 Capn1 calpain 1 gene DOID:630 genetic disease ISO RGD:736980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8812046 Capn1 calpain 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2267 D RGD:9068941 20200609 RGD PMID:23102374|REF_RGD_ID:13792496 8812046 Capn1 calpain 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:12061939 D RGD:9068941 20231109 OMIA Ataxia, spinocerebellar, CAPN1-related PMID:15320590|PMID:2061870|PMID:22634896|PMID:22872628|PMID:23741357|PMID:24736825|PMID:24736826|PMID:27153400|PMID:27259058|PMID:27320912|PMID:30650096|PMID:37341581|PMID:37905444|PMID:4747697 8812046 Capn1 calpain 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8812046 Capn1 calpain 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8812077 Chst10 carbohydrate sulfotransferase 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1353236 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8812077 Chst10 carbohydrate sulfotransferase 10 gene DOID:630 genetic disease ISO RGD:1353236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812103 Sowahb sosondowah ankyrin repeat domain family member B gene DOID:630 genetic disease ISO RGD:1605533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812114 Wnt9a Wnt family member 9A gene DOID:1540 parathyroid carcinoma ISO RGD:1312797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8812114 Wnt9a Wnt family member 9A gene DOID:1612 breast cancer ISO RGD:1312797 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor, cell line:up-regulated in 1/9 primary breast tumors and 2/3 breast cancer cell lines (T-47D, MCF-7) PMID:11713592|REF_RGD_ID:2299944 8812114 Wnt9a Wnt family member 9A gene DOID:1793 pancreatic cancer ISO RGD:1312797 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 8812114 Wnt9a Wnt family member 9A gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1312797 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 8812114 Wnt9a Wnt family member 9A gene DOID:630 genetic disease ISO RGD:1312797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812114 Wnt9a Wnt family member 9A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8812122 Adamdec1 ADAM like decysin 1 gene DOID:630 genetic disease ISO RGD:1320430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812140 Plcb3 phospholipase C beta 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:731269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8812140 Plcb3 phospholipase C beta 3 gene DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy ISO RGD:731269 D RGD:7240710 20200812 OMIM 8812140 Plcb3 phospholipase C beta 3 gene DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy ISO RGD:731269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia with corneal dystrophy PMID:29122926 8812140 Plcb3 phospholipase C beta 3 gene DOID:1059 intellectual disability ISO RGD:731269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8812140 Plcb3 phospholipase C beta 3 gene DOID:12858 Huntington's disease ISO RGD:62285 D RGD:9068941 20200609 RGD PMID:22917585|REF_RGD_ID:13432582 8812140 Plcb3 phospholipase C beta 3 gene DOID:3070 high grade glioma ISO RGD:731269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8812140 Plcb3 phospholipase C beta 3 gene DOID:5844 myocardial infarction ISO RGD:61993 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:9521338|REF_RGD_ID:2314514 8812140 Plcb3 phospholipase C beta 3 gene DOID:630 genetic disease ISO RGD:731269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812140 Plcb3 phospholipase C beta 3 gene DOID:8549 chronic ulcer of skin ISO RGD:62285 D RGD:9068941 20200609 RGD PMID:10669417|REF_RGD_ID:737745 8812140 Plcb3 phospholipase C beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61993 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:15362504|REF_RGD_ID:2314509 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:0050562 West syndrome treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:24321005|REF_RGD_ID:9588540 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732065 D RGD:7240710 20180130 OMIM 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732065 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:10407778|PMID:15642443|PMID:16199547|PMID:17576681|PMID:20052547|PMID:25640679|PMID:25738457|PMID:25741868|PMID:26467025|PMID:27596361|PMID:27903293|PMID:28411234|PMID:28492532|PMID:29302074|PMID:30617166|PMID:31133775|PMID:6148708|PMID:9536098 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:732065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:28492532 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:0080855 Parkinsonism treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:22634324|REF_RGD_ID:9588554 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:732065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:10652 Alzheimer's disease ISO RGD:732065 D RGD:9068941 20200609 RGD PMID:1627256|REF_RGD_ID:10046060 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:10763 hypertension ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:1570022|REF_RGD_ID:1598531 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:11832 visual epilepsy ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:21935729|PMID:2753001|REF_RGD_ID:10047056|REF_RGD_ID:10047087 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:11832 visual epilepsy treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:20109543|REF_RGD_ID:9588535 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:12849 autistic disorder ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15830322 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:12858 Huntington's disease ISO RGD:732065 D RGD:9068941 20200609 RGD PMID:6237280|REF_RGD_ID:10046047 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:12858 Huntington's disease treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:152600|REF_RGD_ID:10047058 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:1596 depressive disorder ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:21914462|REF_RGD_ID:9588556 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:1824 status epilepticus ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:9344635|REF_RGD_ID:1598522 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:2538 Landau-Kleffner syndrome ISO RGD:732065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:2548 reflex epilepsy ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:9706369|REF_RGD_ID:1598520 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:326 ischemia ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:10375453|REF_RGD_ID:1598516 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:5679 retinal disease ISO RGD:1332048 D RGD:9068941 20200609 RGD PMID:18412635|REF_RGD_ID:9588533 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:5812 MHC class II deficiency ISO RGD:732065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:630 genetic disease ISO RGD:732065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:8534 gastroesophageal reflux disease ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552517 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552517 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:732065 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hao-Fountain syndrome 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9001109 Anorexia ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:6534893|REF_RGD_ID:10047083 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9001733 Tinnitus treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:17221143|REF_RGD_ID:9588534 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9002211 Hyperalgesia treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:24890317|REF_RGD_ID:9588557 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9005219 Abnormal Reflexes ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9005603 Muscle Hypotonia ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9005632 Cocaine-Related Disorders treatment ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:22128851|REF_RGD_ID:9588542 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:9846053|REF_RGD_ID:1598518 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:6445277|PMID:7740056|REF_RGD_ID:10047091|REF_RGD_ID:1598524 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9008514 Psychomotor Disorders ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9008617 Lethargy ISO RGD:732065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407778 8812203 Abat 4-aminobutyrate aminotransferase gene DOID:9976 heroin dependence ISO RGD:620948 D RGD:9068941 20200609 RGD PMID:10900239|REF_RGD_ID:10046064 8812234 Myt1l myelin transcription factor 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:731726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8812234 Myt1l myelin transcription factor 1 like gene DOID:0070069 autosomal dominant intellectual developmental disorder 39 ISO RGD:731726 D RGD:7240710 20180130 OMIM 8812234 Myt1l myelin transcription factor 1 like gene DOID:0070069 autosomal dominant intellectual developmental disorder 39 ISO RGD:731726 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39 PMID:23033978|PMID:25232846|PMID:25741868|PMID:28492532|PMID:28859103|PMID:30055078|PMID:30796847|PMID:33622623 8812234 Myt1l myelin transcription factor 1 like gene DOID:1059 intellectual disability ISO RGD:731726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28859103|PMID:30055078 8812234 Myt1l myelin transcription factor 1 like gene DOID:12849 autistic disorder ISO RGD:731726 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8812234 Myt1l myelin transcription factor 1 like gene DOID:630 genetic disease ISO RGD:731726 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8812234 Myt1l myelin transcription factor 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8812317 Rnf126 ring finger protein 126 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1314381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8812317 Rnf126 ring finger protein 126 gene DOID:5339 cyclic hematopoiesis ISO RGD:1314381 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8812317 Rnf126 ring finger protein 126 gene DOID:630 genetic disease ISO RGD:1314381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812332 Ap3s1 adaptor related protein complex 3 subunit sigma 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8812332 Ap3s1 adaptor related protein complex 3 subunit sigma 1 gene DOID:12849 autistic disorder ISO RGD:1322400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8812332 Ap3s1 adaptor related protein complex 3 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1322400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812332 Ap3s1 adaptor related protein complex 3 subunit sigma 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8812332 Ap3s1 adaptor related protein complex 3 subunit sigma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8812332 Ap3s1 adaptor related protein complex 3 subunit sigma 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8812348 Supt20h SPT20 homolog, SAGA complex component gene DOID:630 genetic disease ISO RGD:1343879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812348 Supt20h SPT20 homolog, SAGA complex component gene DOID:7148 rheumatoid arthritis ISO RGD:1343879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis 8812392 Snx33 sorting nexin 33 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 8812392 Snx33 sorting nexin 33 gene DOID:1826 epilepsy ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8812392 Snx33 sorting nexin 33 gene DOID:2717 Bloom syndrome ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8812392 Snx33 sorting nexin 33 gene DOID:5419 schizophrenia ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8812392 Snx33 sorting nexin 33 gene DOID:630 genetic disease ISO RGD:1603528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812392 Snx33 sorting nexin 33 gene DOID:9256 colorectal cancer ISO RGD:1603528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8812398 Nup62 nucleoporin 62 gene DOID:12236 primary biliary cholangitis severity ISO RGD:1349933 D RGD:9068941 20200609 RGD PMID:12753810|REF_RGD_ID:9831196 8812398 Nup62 nucleoporin 62 gene DOID:630 genetic disease ISO RGD:1349933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8812398 Nup62 nucleoporin 62 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1349933 D RGD:7240710 20180130 OMIM 8812398 Nup62 nucleoporin 62 gene DOID:9008334 Striatonigral Degeneration, Infantile ISO RGD:1349933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis PMID:16786527|PMID:25741868|PMID:28492532 8812414 Miip migration and invasion inhibitory protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8812414 Miip migration and invasion inhibitory protein gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1602214 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8812414 Miip migration and invasion inhibitory protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602214 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8812414 Miip migration and invasion inhibitory protein gene DOID:630 genetic disease ISO RGD:1602214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812469 LOC102029703 keratin-associated protein 26-1 gene DOID:630 genetic disease ISO RGD:1603240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812474 Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1319421 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 8812474 Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma gene DOID:0111921 spermatogenic failure 36 ISO RGD:1319421 D RGD:7240710 20190529 OMIM 8812474 Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma gene DOID:0111921 spermatogenic failure 36 ISO RGD:1319421 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 36 PMID:25741868|PMID:30893644|PMID:34714774|PMID:34750818|PMID:8849014 8812474 Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma gene DOID:630 genetic disease ISO RGD:1319421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812474 Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1319421 D RGD:7240710 20191023 OMIM 8812474 Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1319421 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy PMID:25741868|PMID:30893644|PMID:34714774|PMID:34750818|PMID:35812758|PMID:8849014 8812474 Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319421 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8812503 Pphln1 periphilin 1 gene DOID:630 genetic disease ISO RGD:1314694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812521 Tspan2 tetraspanin 2 gene DOID:0080690 RASopathy ISO RGD:1344307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8812521 Tspan2 tetraspanin 2 gene DOID:630 genetic disease ISO RGD:1344307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812521 Tspan2 tetraspanin 2 gene DOID:9007096 Stroke ISO RGD:1344307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8812534 Sf3b3 splicing factor 3b subunit 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1323197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8812534 Sf3b3 splicing factor 3b subunit 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8812534 Sf3b3 splicing factor 3b subunit 3 gene DOID:10283 prostate cancer ISO RGD:1323197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8812534 Sf3b3 splicing factor 3b subunit 3 gene DOID:630 genetic disease ISO RGD:1323197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812564 Arhgap6 Rho GTPase activating protein 6 gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:1349829 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth PMID:10669095|PMID:11201048|PMID:11839357|PMID:11922868|PMID:1483698|PMID:15111628|PMID:1916828|PMID:1967204|PMID:23251683|PMID:25741868|PMID:3169793|PMID:4623931|PMID:5225441|PMID:7599636|PMID:8406474|PMID:9188994 8812564 Arhgap6 Rho GTPase activating protein 6 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 8812564 Arhgap6 Rho GTPase activating protein 6 gene DOID:1059 intellectual disability ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8812564 Arhgap6 Rho GTPase activating protein 6 gene DOID:10629 microphthalmia ISO RGD:1623320 D RGD:9068941 20220825 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 8812564 Arhgap6 Rho GTPase activating protein 6 gene DOID:12849 autistic disorder ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8812564 Arhgap6 Rho GTPase activating protein 6 gene DOID:13938 amenorrhea ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8812564 Arhgap6 Rho GTPase activating protein 6 gene DOID:2187 amelogenesis imperfecta ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 8812564 Arhgap6 Rho GTPase activating protein 6 gene DOID:630 genetic disease ISO RGD:1349829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8812564 Arhgap6 Rho GTPase activating protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8812564 Arhgap6 Rho GTPase activating protein 6 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1349829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8812593 Wtip WT1 interacting protein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8812593 Wtip WT1 interacting protein gene DOID:630 genetic disease ISO RGD:1343375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812605 Adig adipogenin gene DOID:2234 focal epilepsy ISO RGD:1606699 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8812605 Adig adipogenin gene DOID:630 genetic disease ISO RGD:1606699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812617 Rps17 ribosomal protein S17 gene DOID:0111890 Diamond-Blackfan anemia 4 ISO RGD:1351474 D RGD:7240710 20180130 OMIM 8812617 Rps17 ribosomal protein S17 gene DOID:0111890 Diamond-Blackfan anemia 4 ISO RGD:1351474 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 PMID:17647292|PMID:19953637|PMID:23718193|PMID:23812780|PMID:25741868 8812617 Rps17 ribosomal protein S17 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351474 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:17647292|PMID:19953637|PMID:25741868 8812617 Rps17 ribosomal protein S17 gene DOID:2717 Bloom syndrome ISO RGD:1351474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8812617 Rps17 ribosomal protein S17 gene DOID:9256 colorectal cancer ISO RGD:1351474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8812626 Memo1 mediator of cell motility 1 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1320537 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 8812626 Memo1 mediator of cell motility 1 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1320537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:28492532 8812626 Memo1 mediator of cell motility 1 gene DOID:630 genetic disease ISO RGD:1320537 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812626 Memo1 mediator of cell motility 1 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1320537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 8812642 Clec9a C-type lectin domain containing 9A gene DOID:630 genetic disease ISO RGD:1343177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:736475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:736475 D RGD:7240710 20180130 OMIM 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:0060009 MHC class I deficiency ISO RGD:736475 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: MHC class I deficiency PMID:10074494|PMID:10074495|PMID:1570316|PMID:15897556|PMID:16299152|PMID:16624613|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:3891604|PMID:8640228|PMID:9536098 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:10316 pneumoconiosis ISO RGD:736475 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: :p. I333V, D637G (human) PMID:15887980|REF_RGD_ID:6482266 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:1205 allergic disease ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :p.V333I (human) PMID:11591192|REF_RGD_ID:8548785 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:16112028|REF_RGD_ID:1578361 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:2841 asthma susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:12640628|REF_RGD_ID:5147845 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:2957 pulmonary tuberculosis ISO RGD:736475 D RGD:9068941 20200609 RGD associated with HIV Infections; PMID:21843574|REF_RGD_ID:6482248 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736475 D RGD:9068941 20200609 RGD protein:decreased expression:esophagus PMID:19492245|REF_RGD_ID:6482249 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18248301|REF_RGD_ID:6482260 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:4362 cervical cancer susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:12648582|REF_RGD_ID:6482272 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:4483 rhinitis no_association ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:12018331|REF_RGD_ID:6482274 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:4483 rhinitis susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:17982230|REF_RGD_ID:6482262 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:5419 schizophrenia ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:19217216|REF_RGD_ID:6482251 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:6196 reactive arthritis ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:7748224|REF_RGD_ID:6482278 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:630 genetic disease ISO RGD:736475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:7147 ankylosing spondylitis ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19480848|REF_RGD_ID:6482250 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:841 extrinsic allergic alveolitis susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:P. D637G, P661P (human) PMID:18342853|REF_RGD_ID:5147840 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:8893 psoriasis susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.I333V (1207A>G) (human) PMID:11194890|REF_RGD_ID:8548788 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9002304 Prostatic Neoplasms ISO RGD:736475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9002780 Recurrent Respiratory Papillomatosis severity ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D637G(human) PMID:14976605|REF_RGD_ID:5147844 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9007102 Myocardial Ischemia ISO RGD:736475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9007557 Laryngeal Papillomatosis ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:10618282|REF_RGD_ID:5147846 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9008163 Chronic Hepatitis B ISO RGD:736475 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:21843574|REF_RGD_ID:6482248 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:736475 D RGD:9068941 20200609 RGD PMID:9014588|REF_RGD_ID:6482277 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9563 bronchiectasis susceptibility ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p. I333V, D637G (human) PMID:17245734|REF_RGD_ID:5147842 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:11387 D RGD:9068941 20200609 RGD DNA:mutation:promoter (mouse) PMID:9300732|REF_RGD_ID:2312370 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:insertion:intron (human) PMID:9458110|REF_RGD_ID:2312369 8812671 Tap1 transporter 1, ATP binding cassette subfamily B member gene DOID:9744 type 1 diabetes mellitus ISO RGD:736475 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:9129974|REF_RGD_ID:2312371 8812686 Rnf208 ring finger protein 208 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8812686 Rnf208 ring finger protein 208 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603720 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8812686 Rnf208 ring finger protein 208 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8812686 Rnf208 ring finger protein 208 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603720 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8812686 Rnf208 ring finger protein 208 gene DOID:0081097 Rafiq syndrome ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8812686 Rnf208 ring finger protein 208 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603720 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8812686 Rnf208 ring finger protein 208 gene DOID:1826 epilepsy ISO RGD:1603720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8812686 Rnf208 ring finger protein 208 gene DOID:630 genetic disease ISO RGD:1603720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812686 Rnf208 ring finger protein 208 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8812691 Tekt1 tektin 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:732609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8812691 Tekt1 tektin 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:732609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8812691 Tekt1 tektin 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:732609 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8812691 Tekt1 tektin 1 gene DOID:12177 common variable immunodeficiency ISO RGD:732609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8812691 Tekt1 tektin 1 gene DOID:2729 dyskeratosis congenita ISO RGD:732609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8812691 Tekt1 tektin 1 gene DOID:630 genetic disease ISO RGD:732609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812711 Gja5 gap junction protein alpha 5 gene DOID:0050650 familial atrial fibrillation ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:12522116|PMID:28492532 8812711 Gja5 gap junction protein alpha 5 gene DOID:0060041 autism spectrum disorder ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8812711 Gja5 gap junction protein alpha 5 gene DOID:0060224 atrial fibrillation ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, somatic PMID:16790700 8812711 Gja5 gap junction protein alpha 5 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome PMID:25741868|PMID:28492532 8812711 Gja5 gap junction protein alpha 5 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:736164 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 8812711 Gja5 gap junction protein alpha 5 gene DOID:0070355 overactive bladder syndrome ISO RGD:2692 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17855776|REF_RGD_ID:7207474 8812711 Gja5 gap junction protein alpha 5 gene DOID:0080662 atrial standstill 1 ISO RGD:736164 D RGD:7240710 20180130 OMIM 8812711 Gja5 gap junction protein alpha 5 gene DOID:0080662 atrial standstill 1 ISO RGD:736164 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Atrial standstill 1 PMID:16790700|PMID:21921585|PMID:22199024|PMID:22713807|PMID:22912587|PMID:23348765|PMID:24060583|PMID:24144883|PMID:25205790|PMID:25741868|PMID:26137477|PMID:26279651|PMID:26503720|PMID:27930557|PMID:28074886|PMID:28398664|PMID:28457700|PMID:28492532|PMID:30847666|PMID:34495297|PMID:9588401 8812711 Gja5 gap junction protein alpha 5 gene DOID:0110231 cataract 1 multiple types ISO RGD:736164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 8812711 Gja5 gap junction protein alpha 5 gene DOID:10763 hypertension ISO RGD:2692 D RGD:9068941 20200609 RGD protein:decreased expression:artery endothelium PMID:11821709|REF_RGD_ID:7207848 8812711 Gja5 gap junction protein alpha 5 gene DOID:10763 hypertension ISO RGD:736164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19109587 8812711 Gja5 gap junction protein alpha 5 gene DOID:10763 hypertension treatment ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:19686729|REF_RGD_ID:7207417 8812711 Gja5 gap junction protein alpha 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8812711 Gja5 gap junction protein alpha 5 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:736164 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:25741868|PMID:28492532 8812711 Gja5 gap junction protein alpha 5 gene DOID:1540 parathyroid carcinoma ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8812711 Gja5 gap junction protein alpha 5 gene DOID:1591 renovascular hypertension ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:11422751|REF_RGD_ID:7207851 8812711 Gja5 gap junction protein alpha 5 gene DOID:2921 glomerulonephritis ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:22945766|REF_RGD_ID:7207390 8812711 Gja5 gap junction protein alpha 5 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8812711 Gja5 gap junction protein alpha 5 gene DOID:5199 ureteral obstruction ISO RGD:2692 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12644912|REF_RGD_ID:7207847 8812711 Gja5 gap junction protein alpha 5 gene DOID:5419 schizophrenia ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8812711 Gja5 gap junction protein alpha 5 gene DOID:5844 myocardial infarction treatment ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:29428663|REF_RGD_ID:13592597 8812711 Gja5 gap junction protein alpha 5 gene DOID:630 genetic disease ISO RGD:736164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8812711 Gja5 gap junction protein alpha 5 gene DOID:6419 tetralogy of Fallot ISO RGD:736164 D RGD:9068941 20200609 RGD DNA:duplications PMID:22199024|REF_RGD_ID:7207464 8812711 Gja5 gap junction protein alpha 5 gene DOID:6419 tetralogy of Fallot ISO RGD:736165 D RGD:9068941 20220825 MouseDO OMIM:187500 8812711 Gja5 gap junction protein alpha 5 gene DOID:9000998 Brain Injuries ISO RGD:2692 D RGD:9068941 20200609 RGD protein:increased expression:cerebral artery PMID:21895483|REF_RGD_ID:7207391 8812711 Gja5 gap junction protein alpha 5 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:19077877|REF_RGD_ID:7207423 8812711 Gja5 gap junction protein alpha 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8812711 Gja5 gap junction protein alpha 5 gene DOID:9004484 Sepsis ISO RGD:2692 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta endothelium PMID:15942348|REF_RGD_ID:7207815 8812711 Gja5 gap junction protein alpha 5 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2692 D RGD:9068941 20200609 RGD PMID:20609064|REF_RGD_ID:7207415 8812711 Gja5 gap junction protein alpha 5 gene DOID:9008693 Familial Atrial Fibrillation 11 ISO RGD:736164 D RGD:7240710 20180130 OMIM 8812711 Gja5 gap junction protein alpha 5 gene DOID:9008693 Familial Atrial Fibrillation 11 ISO RGD:736164 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 11 PMID:16790700|PMID:20818502|PMID:23348765|PMID:24060583|PMID:24144883|PMID:25741868|PMID:26503720|PMID:28074886|PMID:28457700|PMID:28492532|PMID:30847666|PMID:9588401 8812711 Gja5 gap junction protein alpha 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8812711 Gja5 gap junction protein alpha 5 gene DOID:9970 obesity ISO RGD:2692 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:mesenteric artery PMID:18324386|REF_RGD_ID:7207466 8812727 U2surp U2 snRNP associated SURP domain containing gene DOID:630 genetic disease ISO RGD:4892414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812727 U2surp U2 snRNP associated SURP domain containing gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:4892414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8812762 Smim17 small integral membrane protein 17 gene DOID:630 genetic disease ISO RGD:7205118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812769 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:0060795 hypomyelinating leukodystrophy 13 ISO RGD:1604822 D RGD:7240710 20190315 OMIM 8812769 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:0060795 hypomyelinating leukodystrophy 13 ISO RGD:1604822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 13 PMID:25741868|PMID:26545878|PMID:28492532|PMID:31912665 8812769 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1604822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 8812769 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:1059 intellectual disability ISO RGD:1604822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8812769 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:1909 melanoma ISO RGD:1604822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8812769 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:630 genetic disease ISO RGD:1604822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25760597|PMID:28492532 8812769 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:9000217 Stomach Neoplasms ISO RGD:1604822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8812769 Hikeshi heat shock protein nuclear import factor hikeshi gene DOID:9000918 Disease Progression ISO RGD:1604822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8812783 Myl11 myosin light chain 11 gene DOID:0050646 distal arthrogryposis ISO RGD:1603646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:32707087 8812783 Myl11 myosin light chain 11 gene DOID:0112190 distal arthrogryposis type 1C ISO RGD:1603646 D RGD:7240710 20201223 OMIM 8812783 Myl11 myosin light chain 11 gene DOID:0112190 distal arthrogryposis type 1C ISO RGD:1603646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C PMID:25741868|PMID:32707087 8812783 Myl11 myosin light chain 11 gene DOID:630 genetic disease ISO RGD:1603646 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812794 Blzf1 basic leucine zipper nuclear factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8812794 Blzf1 basic leucine zipper nuclear factor 1 gene DOID:630 genetic disease ISO RGD:1349052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812794 Blzf1 basic leucine zipper nuclear factor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349052 D RGD:9068941 20200609 RGD PMID:26342799|REF_RGD_ID:14398326 8812794 Blzf1 basic leucine zipper nuclear factor 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1349052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8812794 Blzf1 basic leucine zipper nuclear factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal muscle weakness in upper limbs 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1601772 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1601772 D RGD:7240710 20180130 OMIM 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1601772 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: FSHD2, DIGENIC | ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 | ClinVar Annotator: match by term: SMCHD1-related condition | ClinVar Annotator: match by term: Weakness of facial musculature PMID:16199547|PMID:17576681|PMID:23143600|PMID:24075187|PMID:24755953|PMID:25214167|PMID:25256356|PMID:25370034|PMID:25640679|PMID:25741868|PMID:25782668|PMID:26467025|PMID:26842768|PMID:27061275|PMID:28067909|PMID:28067911|PMID:28492532|PMID:29980640|PMID:30327220|PMID:30546343|PMID:31243061|PMID:31312724|PMID:31600781|PMID:32528171|PMID:34008892|PMID:8723126|PMID:9536098 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1601772 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:11383 cryptorchidism ISO RGD:1601772 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868|PMID:28067909 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:630 genetic disease ISO RGD:1601772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23143600|PMID:25256356|PMID:25370034|PMID:25741868|PMID:26467025|PMID:27061275|PMID:28492532 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9004042 Olfaction Disorders ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anosmia PMID:28067909|PMID:28492532|PMID:31312724|PMID:8723126 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9004147 Anosmia ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anosmia PMID:28067909|PMID:28492532|PMID:31312724|PMID:8723126 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9005523 Majeed Syndrome ISO RGD:1601772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:15994876|PMID:23087183|PMID:28492532 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9005532 Muscle Weakness ISO RGD:1601772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:23143600|PMID:28492532 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9006386 Scapulohumeral Muscular Dystrophy ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:32528171 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9007423 Arhinia, Choanal Atresia, and Microphthalmia ISO RGD:1601772 D RGD:7240710 20190315 OMIM 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9007423 Arhinia, Choanal Atresia, and Microphthalmia ISO RGD:1601772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia PMID:11321738|PMID:16353241|PMID:23143600|PMID:23432817|PMID:23852095|PMID:25741868|PMID:26440771|PMID:26467025|PMID:26842768|PMID:28067909|PMID:28067911|PMID:28492532|PMID:31243061|PMID:31312724|PMID:5032329|PMID:672092|PMID:6802865|PMID:8446727|PMID:8723126 8812809 Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 gene DOID:9884 muscular dystrophy ISO RGD:1601772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy 8812891 Plac8l1 PLAC8 like 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342779 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8812891 Plac8l1 PLAC8 like 1 gene DOID:630 genetic disease ISO RGD:1342779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812891 Plac8l1 PLAC8 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8812891 Plac8l1 PLAC8 like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342779 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8812902 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:1604388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:25741868 8812902 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:0070289 primary autosomal recessive microcephaly 16 ISO RGD:1604388 D RGD:7240710 20180130 OMIM 8812902 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:0070289 primary autosomal recessive microcephaly 16 ISO RGD:1604388 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive PMID:23806086|PMID:24088041|PMID:25259927|PMID:25741868|PMID:30214071|PMID:31735666|PMID:35871307 8812902 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1604388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8812902 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:10907 microcephaly ISO RGD:1604388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23806086|PMID:24088041|PMID:25259927 8812902 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:630 genetic disease ISO RGD:1604388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8812902 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:1604388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination PMID:25741868 8812902 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1604388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 8812902 Ankle2 ankyrin repeat and LEM domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1604388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 8812928 Drosha drosha ribonuclease III gene DOID:10485 esophageal atresia ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8812928 Drosha drosha ribonuclease III gene DOID:12336 male infertility ISO RGD:1605687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22381205 8812928 Drosha drosha ribonuclease III gene DOID:2154 nephroblastoma ISO RGD:1605687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8812928 Drosha drosha ribonuclease III gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8812928 Drosha drosha ribonuclease III gene DOID:630 genetic disease ISO RGD:1605687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812928 Drosha drosha ribonuclease III gene DOID:687 hepatoblastoma ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 8812928 Drosha drosha ribonuclease III gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8812977 Mmp28 matrix metallopeptidase 28 gene DOID:630 genetic disease ISO RGD:1323102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8812977 Mmp28 matrix metallopeptidase 28 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1323102 D RGD:9068941 20230831 RGD mRNA:decreased expression:leg blood vessel (human) PMID:22721676|REF_RGD_ID:401793723 8813050 Bbof1 basal body orientation factor 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1346239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 8813050 Bbof1 basal body orientation factor 1 gene DOID:1059 intellectual disability ISO RGD:1346239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8813050 Bbof1 basal body orientation factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1346239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8813050 Bbof1 basal body orientation factor 1 gene DOID:630 genetic disease ISO RGD:1346239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8813050 Bbof1 basal body orientation factor 1 gene DOID:9006567 Methylmalonate Semialdehyde Dehydrogenase Deficiency ISO RGD:1346239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency PMID:10947204|PMID:11446412|PMID:21863277|PMID:23835272|PMID:25741868|PMID:28492532|PMID:3117077|PMID:32151545|PMID:3939535 8813071 Rps16 ribosomal protein S16 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737248 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8813071 Rps16 ribosomal protein S16 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8813071 Rps16 ribosomal protein S16 gene DOID:1342 congenital hypoplastic anemia ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8813071 Rps16 ribosomal protein S16 gene DOID:2340 craniosynostosis ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8813071 Rps16 ribosomal protein S16 gene DOID:630 genetic disease ISO RGD:737248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813071 Rps16 ribosomal protein S16 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8813071 Rps16 ribosomal protein S16 gene DOID:9269 maple syrup urine disease ISO RGD:737248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8813071 Rps16 ribosomal protein S16 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1351228 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P312L (human) PMID:11940089|REF_RGD_ID:11554032 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome ISO RGD:1351228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16 PMID:25741868|PMID:28492532 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1351228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:0111824 Aarskog syndrome ISO RGD:1351228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aarskog syndrome PMID:10930571|PMID:11093277|PMID:11940089|PMID:14560308|PMID:15809997|PMID:16353258|PMID:16688726|PMID:17152066|PMID:17847065|PMID:20082460|PMID:21739585|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:27959697|PMID:28492532|PMID:29276006|PMID:4146757|PMID:7954831 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1351228 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (human) PMID:19141649|REF_RGD_ID:11554027 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1351228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11940089|PMID:25741868|PMID:28492532 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15809997 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1351228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1351228 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:19141649|REF_RGD_ID:11554027 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:630 genetic disease ISO RGD:1351228 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11093277|PMID:11940089|PMID:17576681|PMID:17847065|PMID:19261807|PMID:20082460|PMID:21739585|PMID:23211637|PMID:23375260|PMID:24033266|PMID:25046119|PMID:25741868|PMID:26029706|PMID:26467025|PMID:27959697|PMID:28492532|PMID:8969170|PMID:9536098 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:6683 X-linked Aarskog syndrome ISO RGD:1351228 D RGD:7240710 20180130 OMIM 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:6683 X-linked Aarskog syndrome ISO RGD:1351228 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition PMID:14560308|PMID:21739585|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:28492532|PMID:29276006 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9000067 Congenital Foot Deformities ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11940089 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930571|PMID:11093277|PMID:7954831 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11940089 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9006257 Growth Disorders ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930571|PMID:11093277|PMID:11940089|PMID:7954831 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11093277 8813080 Fgd1 FYVE, RhoGEF and PH domain containing 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7954831 8813105 Has2 hyaluronan synthase 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:732743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8813105 Has2 hyaluronan synthase 2 gene DOID:2987 familial mediterranean fever ISO RGD:12177236 D RGD:9068941 20240111 OMIA Periodic Fever Syndrome PMID:1606750|PMID:20080661|PMID:20178474|PMID:21437276|PMID:21718367|PMID:24130694|PMID:25040095|PMID:27107962|PMID:28472921|PMID:36978210|PMID:38093396|PMID:8270767 8813105 Has2 hyaluronan synthase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:2781 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:11283406|REF_RGD_ID:9588631 8813105 Has2 hyaluronan synthase 2 gene DOID:630 genetic disease ISO RGD:732743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813105 Has2 hyaluronan synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:2781 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19915162|REF_RGD_ID:9588633 8813105 Has2 hyaluronan synthase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2781 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal medulla PMID:18441392|REF_RGD_ID:9588630 8813105 Has2 hyaluronan synthase 2 gene DOID:9003936 Cardiomegaly ISO RGD:2781 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18196276|REF_RGD_ID:2289364 8813105 Has2 hyaluronan synthase 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2781 D RGD:9068941 20200609 RGD PMID:22529164|REF_RGD_ID:9588636 8813105 Has2 hyaluronan synthase 2 gene DOID:9409 diabetes insipidus ISO RGD:2781 D RGD:9068941 20200609 RGD PMID:19496322|REF_RGD_ID:9588637 8813111 Rab34 RAB34, member RAS oncogene family gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1312861 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:37619988 8813111 Rab34 RAB34, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1312861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813111 Rab34 RAB34, member RAS oncogene family gene DOID:9009195 Orofaciodigital Syndrome XX ISO RGD:1312861 D RGD:7240710 20240221 OMIM 8813111 Rab34 RAB34, member RAS oncogene family gene DOID:9009195 Orofaciodigital Syndrome XX ISO RGD:1312861 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome XX PMID:37384395 8813137 Nrg2 neuregulin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606028 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8813137 Nrg2 neuregulin 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1606028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8813137 Nrg2 neuregulin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8813137 Nrg2 neuregulin 2 gene DOID:630 genetic disease ISO RGD:1606028 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8813137 Nrg2 neuregulin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8813137 Nrg2 neuregulin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606028 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8813158 Pym1 PYM homolog 1, exon junction complex associated factor gene DOID:630 genetic disease ISO RGD:1601845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813165 Ranbp1 RAN binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8813165 Ranbp1 RAN binding protein 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1321469 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8813165 Ranbp1 RAN binding protein 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1321469 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8813165 Ranbp1 RAN binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8813165 Ranbp1 RAN binding protein 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1321469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8813165 Ranbp1 RAN binding protein 1 gene DOID:11372 megacolon ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8813165 Ranbp1 RAN binding protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:1310521 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:18667152|REF_RGD_ID:9835000 8813165 Ranbp1 RAN binding protein 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1321469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8813165 Ranbp1 RAN binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8813165 Ranbp1 RAN binding protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1321469 D RGD:9068941 20200609 RGD protein:decreased expression:heart ventricle, cytoplasm (human) PMID:25341891|REF_RGD_ID:9835001 8813165 Ranbp1 RAN binding protein 1 gene DOID:1826 epilepsy ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8813165 Ranbp1 RAN binding protein 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8813165 Ranbp1 RAN binding protein 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1321469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8813165 Ranbp1 RAN binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8813165 Ranbp1 RAN binding protein 1 gene DOID:5844 myocardial infarction ISO RGD:1310521 D RGD:9068941 20200609 RGD protein:decreased expression:heart ventricle, cytoplasm (rat) PMID:25341891|REF_RGD_ID:9835001 8813165 Ranbp1 RAN binding protein 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8813165 Ranbp1 RAN binding protein 1 gene DOID:630 genetic disease ISO RGD:1321469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813165 Ranbp1 RAN binding protein 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1321469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 8813165 Ranbp1 RAN binding protein 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8813165 Ranbp1 RAN binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8813197 Rad54b RAD54 homolog B gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1604371 D RGD:7240710 20180130 OMIM 8813197 Rad54b RAD54 homolog B gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1604371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:10362364|PMID:28492532 8813197 Rad54b RAD54 homolog B gene DOID:1520 colon carcinoma ISO RGD:1604371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10362364 8813197 Rad54b RAD54 homolog B gene DOID:630 genetic disease ISO RGD:1604371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813197 Rad54b RAD54 homolog B gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604371 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8813197 Rad54b RAD54 homolog B gene DOID:9256 colorectal cancer ISO RGD:1604371 D RGD:7240710 20200226 OMIM 8813216 Cnpy3 canopy FGF signaling regulator 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1319430 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8813216 Cnpy3 canopy FGF signaling regulator 3 gene DOID:0080432 developmental and epileptic encephalopathy 60 ISO RGD:1319430 D RGD:7240710 20190315 OMIM 8813216 Cnpy3 canopy FGF signaling regulator 3 gene DOID:0080432 developmental and epileptic encephalopathy 60 ISO RGD:1319430 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 60 PMID:25741868|PMID:25741895|PMID:29394991 8813216 Cnpy3 canopy FGF signaling regulator 3 gene DOID:630 genetic disease ISO RGD:1319430 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8813216 Cnpy3 canopy FGF signaling regulator 3 gene DOID:905 Zellweger syndrome ISO RGD:1319430 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8813230 Rin3 Ras and Rab interactor 3 gene DOID:0080054 achondrogenesis type IA ISO RGD:1314128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8813230 Rin3 Ras and Rab interactor 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1314128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8813230 Rin3 Ras and Rab interactor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1314128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8813230 Rin3 Ras and Rab interactor 3 gene DOID:5408 Paget's disease of bone ISO RGD:1314128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 8813230 Rin3 Ras and Rab interactor 3 gene DOID:630 genetic disease ISO RGD:1314128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813245 Mtcl1 microtubule crosslinking factor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:30548255 8813245 Mtcl1 microtubule crosslinking factor 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1348438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8813245 Mtcl1 microtubule crosslinking factor 1 gene DOID:1059 intellectual disability ISO RGD:1348438 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8813245 Mtcl1 microtubule crosslinking factor 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1348438 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:23902687|PMID:25741868 8813245 Mtcl1 microtubule crosslinking factor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 8813245 Mtcl1 microtubule crosslinking factor 1 gene DOID:630 genetic disease ISO RGD:1348438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813277 Neu3 neuraminidase 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1347886 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8813277 Neu3 neuraminidase 3 gene DOID:1059 intellectual disability ISO RGD:1347886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8813277 Neu3 neuraminidase 3 gene DOID:630 genetic disease ISO RGD:1347886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813277 Neu3 neuraminidase 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1347886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8813303 Chct1 CHD1 helical C-terminal domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603589 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8813303 Chct1 CHD1 helical C-terminal domain containing 1 gene DOID:11372 megacolon ISO RGD:1603589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8813315 Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1321839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8813315 Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 gene DOID:2843 long QT syndrome ISO RGD:1321839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8813315 Agap3 ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 gene DOID:630 genetic disease ISO RGD:1321839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813341 Nlrp14 NLR family pyrin domain containing 14 gene DOID:0111910 spermatogenic failure ISO RGD:1315283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure PMID:16931801|PMID:20981092|PMID:22344438|PMID:24033266|PMID:25741868 8813341 Nlrp14 NLR family pyrin domain containing 14 gene DOID:630 genetic disease ISO RGD:1315283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813357 Tdrd6 tudor domain containing 6 gene DOID:2843 long QT syndrome ISO RGD:1314293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8813357 Tdrd6 tudor domain containing 6 gene DOID:630 genetic disease ISO RGD:1314293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27694961 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:0060041 autism spectrum disorder ISO RGD:1344203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1344203 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:0111988 immunodeficiency 12 ISO RGD:1344203 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:1059 intellectual disability ISO RGD:1344203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:27694961|PMID:28492532|PMID:32117442 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:10763 hypertension ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18524855|PMID:23348737 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:10892 hypospadias ISO RGD:1551161 D RGD:9068941 20230302 RGD protein:decreased expression:urethra PMID:32413360|REF_RGD_ID:156431051 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:11193 syndactyly ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27694961 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:12930 dilated cardiomyopathy ISO RGD:1344203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28701297 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:1826 epilepsy ISO RGD:1344203 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:289 endometriosis ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1344203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:674 cleft palate ISO RGD:1344203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27694961 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:9001678 Periventricular Nodular Heterotopia 7 ISO RGD:1344203 D RGD:7240710 20190315 OMIM 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:9001678 Periventricular Nodular Heterotopia 7 ISO RGD:1344203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay PMID:25741868|PMID:27694961|PMID:28492532|PMID:28515470|PMID:32117442|PMID:32238909 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:9007096 Stroke ISO RGD:735047 D RGD:9068941 20200609 RGD PMID:22417925|REF_RGD_ID:6893327 8813366 Nedd4l NEDD4 like E3 ubiquitin protein ligase gene DOID:9008582 Developmental Disease ISO RGD:1344203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8813425 Matn4 matrilin 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1320229 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 8813425 Matn4 matrilin 4 gene DOID:2234 focal epilepsy ISO RGD:1320229 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8813425 Matn4 matrilin 4 gene DOID:4621 holoprosencephaly ISO RGD:1320229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25558065 8813425 Matn4 matrilin 4 gene DOID:630 genetic disease ISO RGD:1320229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813425 Matn4 matrilin 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1320229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8813425 Matn4 matrilin 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8813425 Matn4 matrilin 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 8813446 Hmox1 heme oxygenase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:730901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8813446 Hmox1 heme oxygenase 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:17511582|REF_RGD_ID:4145404 8813446 Hmox1 heme oxygenase 1 gene DOID:0050852 limb ischemia ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12593860|REF_RGD_ID:1598394 8813446 Hmox1 heme oxygenase 1 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 8813446 Hmox1 heme oxygenase 1 gene DOID:0060180 colitis ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 8813446 Hmox1 heme oxygenase 1 gene DOID:0060180 colitis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16365149|PMID:21444764 8813446 Hmox1 heme oxygenase 1 gene DOID:0060180 colitis treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21853095|REF_RGD_ID:10766442 8813446 Hmox1 heme oxygenase 1 gene DOID:0060903 thrombosis ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:15242554|REF_RGD_ID:1598405 8813446 Hmox1 heme oxygenase 1 gene DOID:0060903 thrombosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19168058 8813446 Hmox1 heme oxygenase 1 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19387321|REF_RGD_ID:4145318 8813446 Hmox1 heme oxygenase 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:24169105|REF_RGD_ID:10755712 8813446 Hmox1 heme oxygenase 1 gene DOID:10322 berylliosis ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased activity:sputum PMID:19453654|REF_RGD_ID:4145349 8813446 Hmox1 heme oxygenase 1 gene DOID:10325 silicosis ISO RGD:10717 D RGD:9068941 20200609 RGD protein:increased expression:serum, lung PMID:16858012|REF_RGD_ID:4145384 8813446 Hmox1 heme oxygenase 1 gene DOID:10325 silicosis ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased expression:serum, lung PMID:16858012|REF_RGD_ID:4145384 8813446 Hmox1 heme oxygenase 1 gene DOID:10533 viral pneumonia ISO RGD:10717 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:8843786|REF_RGD_ID:4145417 8813446 Hmox1 heme oxygenase 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16319717 8813446 Hmox1 heme oxygenase 1 gene DOID:10591 pre-eclampsia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197494 8813446 Hmox1 heme oxygenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11144356 8813446 Hmox1 heme oxygenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, temporal cortex (human) PMID:7778849|REF_RGD_ID:1358658 8813446 Hmox1 heme oxygenase 1 gene DOID:1073 renal hypertension ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:16316349|REF_RGD_ID:1582711 8813446 Hmox1 heme oxygenase 1 gene DOID:10762 portal hypertension ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:16830363|REF_RGD_ID:1582701 8813446 Hmox1 heme oxygenase 1 gene DOID:10763 hypertension ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12215473|REF_RGD_ID:1580453 8813446 Hmox1 heme oxygenase 1 gene DOID:10763 hypertension ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16959961|PMID:22349312|PMID:22352330 8813446 Hmox1 heme oxygenase 1 gene DOID:10763 hypertension susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:12872043|REF_RGD_ID:1598400 8813446 Hmox1 heme oxygenase 1 gene DOID:10763 hypertension treatment ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:20836698|REF_RGD_ID:10755717 8813446 Hmox1 heme oxygenase 1 gene DOID:10923 sickle cell anemia ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:11238038|REF_RGD_ID:10755563 8813446 Hmox1 heme oxygenase 1 gene DOID:10923 sickle cell anemia ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:11238038|REF_RGD_ID:10755563 8813446 Hmox1 heme oxygenase 1 gene DOID:10923 sickle cell anemia treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20306336|REF_RGD_ID:10755565 8813446 Hmox1 heme oxygenase 1 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20013271|REF_RGD_ID:10755701 8813446 Hmox1 heme oxygenase 1 gene DOID:11394 adult respiratory distress syndrome susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:19526221|REF_RGD_ID:4145346 8813446 Hmox1 heme oxygenase 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23224421|REF_RGD_ID:10755722 8813446 Hmox1 heme oxygenase 1 gene DOID:11713 diabetic angiopathy ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16959961 8813446 Hmox1 heme oxygenase 1 gene DOID:11823 hepatorenal syndrome ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21253390 8813446 Hmox1 heme oxygenase 1 gene DOID:11914 gastroparesis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20378827 8813446 Hmox1 heme oxygenase 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2806 D RGD:9068941 20230831 RGD protein:increased activity:heart (rat) PMID:19889059|REF_RGD_ID:401794453 8813446 Hmox1 heme oxygenase 1 gene DOID:12134 factor VIII deficiency treatment ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:23716558|REF_RGD_ID:10755564 8813446 Hmox1 heme oxygenase 1 gene DOID:12236 primary biliary cholangitis ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, lung PMID:12114196|REF_RGD_ID:625603 8813446 Hmox1 heme oxygenase 1 gene DOID:12337 varicocele severity ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:15878918|REF_RGD_ID:1598403 8813446 Hmox1 heme oxygenase 1 gene DOID:12365 malaria ISO RGD:10717 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 8813446 Hmox1 heme oxygenase 1 gene DOID:1247 blood coagulation disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 8813446 Hmox1 heme oxygenase 1 gene DOID:12510 retinal ischemia treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 8813446 Hmox1 heme oxygenase 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA:increased expression:blood cells PMID:18301921|REF_RGD_ID:4145353 8813446 Hmox1 heme oxygenase 1 gene DOID:1289 neurodegenerative disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10942521|PMID:12709579|PMID:15964507 8813446 Hmox1 heme oxygenase 1 gene DOID:12894 Sjogren's syndrome treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:24941846|REF_RGD_ID:10450595 8813446 Hmox1 heme oxygenase 1 gene DOID:13100 intracranial vasospasm ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage PMID:19686725|REF_RGD_ID:4145300 8813446 Hmox1 heme oxygenase 1 gene DOID:13100 intracranial vasospasm ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14657544|REF_RGD_ID:1598406 8813446 Hmox1 heme oxygenase 1 gene DOID:13100 intracranial vasospasm treatment ISO RGD:730901 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage PMID:21654696|REF_RGD_ID:10755572 8813446 Hmox1 heme oxygenase 1 gene DOID:13241 Behcet's disease ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononulcear cell: PMID:18234118|REF_RGD_ID:7777175 8813446 Hmox1 heme oxygenase 1 gene DOID:13378 Kawasaki disease no_association ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14521259|REF_RGD_ID:1598409 8813446 Hmox1 heme oxygenase 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased activity:sputum PMID:19453654|REF_RGD_ID:4145349 8813446 Hmox1 heme oxygenase 1 gene DOID:13413 hepatic encephalopathy treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23670786|REF_RGD_ID:10766445 8813446 Hmox1 heme oxygenase 1 gene DOID:14115 toxic shock syndrome ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:18208666|REF_RGD_ID:4145362 8813446 Hmox1 heme oxygenase 1 gene DOID:14330 Parkinson's disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 8813446 Hmox1 heme oxygenase 1 gene DOID:1485 cystic fibrosis ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA:protein:increased expression:lung PMID:15184199|REF_RGD_ID:4145410 8813446 Hmox1 heme oxygenase 1 gene DOID:1584 acute chest syndrome ISO RGD:730901 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:repeat:promoter PMID:22966170|REF_RGD_ID:10755560 8813446 Hmox1 heme oxygenase 1 gene DOID:1673 pneumothorax ISO RGD:730901 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20526373|REF_RGD_ID:4145332 8813446 Hmox1 heme oxygenase 1 gene DOID:1824 status epilepticus ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:20971094|REF_RGD_ID:4145131 8813446 Hmox1 heme oxygenase 1 gene DOID:1824 status epilepticus ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20971094 8813446 Hmox1 heme oxygenase 1 gene DOID:2018 hyperinsulinism ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19171794 8813446 Hmox1 heme oxygenase 1 gene DOID:2237 hepatitis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14512878 8813446 Hmox1 heme oxygenase 1 gene DOID:2316 brain ischemia ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:16464361|PMID:21276833|REF_RGD_ID:10755576|REF_RGD_ID:1582709 8813446 Hmox1 heme oxygenase 1 gene DOID:2349 arteriosclerosis ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12958201|REF_RGD_ID:1598395 8813446 Hmox1 heme oxygenase 1 gene DOID:2351 iron metabolism disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 8813446 Hmox1 heme oxygenase 1 gene DOID:2352 hemochromatosis ISO RGD:10717 D RGD:9068941 20220825 MouseDO OMIM:231100 8813446 Hmox1 heme oxygenase 1 gene DOID:26 pancreas disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18784349 8813446 Hmox1 heme oxygenase 1 gene DOID:2773 contact dermatitis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8813446 Hmox1 heme oxygenase 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12973103|REF_RGD_ID:4145412 8813446 Hmox1 heme oxygenase 1 gene DOID:2841 asthma ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:20596599|REF_RGD_ID:4145403 8813446 Hmox1 heme oxygenase 1 gene DOID:2841 asthma ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18048809 8813446 Hmox1 heme oxygenase 1 gene DOID:2841 asthma severity ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA;protein:increased expression:Leukocytes, Mononuclear PMID:16196283|REF_RGD_ID:4145408 8813446 Hmox1 heme oxygenase 1 gene DOID:299 adenocarcinoma susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD Lung Adenocarcinoma; DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats) PMID:15688187|REF_RGD_ID:1601607 8813446 Hmox1 heme oxygenase 1 gene DOID:3021 acute kidney failure ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21048024 8813446 Hmox1 heme oxygenase 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Sepsis PMID:23807243|REF_RGD_ID:10755583 8813446 Hmox1 heme oxygenase 1 gene DOID:3082 interstitial lung disease ISO RGD:730901 D RGD:9068941 20200609 RGD Idiopathic Interstitial Pneumonias;protein:increased expression:lung PMID:11727267|REF_RGD_ID:4145416 8813446 Hmox1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730901 D RGD:7240710 20240313 OMIM 8813446 Hmox1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730901 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: HMOX1-related condition PMID:25741868|PMID:28492532 8813446 Hmox1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:17254481|REF_RGD_ID:4145371 8813446 Hmox1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730901 D RGD:9068941 20240314 RGD DNA:polymorphism:promoter PMID:17203192|REF_RGD_ID:4145372 8813446 Hmox1 heme oxygenase 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20705587|REF_RGD_ID:10755705 8813446 Hmox1 heme oxygenase 1 gene DOID:326 ischemia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15036356|PMID:19667931 8813446 Hmox1 heme oxygenase 1 gene DOID:3393 coronary artery disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12136229 8813446 Hmox1 heme oxygenase 1 gene DOID:3393 coronary artery disease ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:12377749|REF_RGD_ID:1580454 8813446 Hmox1 heme oxygenase 1 gene DOID:3393 coronary artery disease no_association ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:14691581|REF_RGD_ID:1580470 8813446 Hmox1 heme oxygenase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:12136229|REF_RGD_ID:1598401 8813446 Hmox1 heme oxygenase 1 gene DOID:3407 carotid artery disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17095719 8813446 Hmox1 heme oxygenase 1 gene DOID:3410 carotid artery thrombosis treatment ISO RGD:10717 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell PMID:23590132|REF_RGD_ID:10755698 8813446 Hmox1 heme oxygenase 1 gene DOID:349 systemic mastocytosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17420286 8813446 Hmox1 heme oxygenase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23870531|PMID:24252362|REF_RGD_ID:10755587|REF_RGD_ID:10755755 8813446 Hmox1 heme oxygenase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:20888632|REF_RGD_ID:10755588 8813446 Hmox1 heme oxygenase 1 gene DOID:3526 cerebral infarction ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:23311871|REF_RGD_ID:10755574 8813446 Hmox1 heme oxygenase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814490 8813446 Hmox1 heme oxygenase 1 gene DOID:409 liver disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16964402|PMID:17002867|PMID:17275847 8813446 Hmox1 heme oxygenase 1 gene DOID:4247 coronary restenosis susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:16020495|REF_RGD_ID:1598402 8813446 Hmox1 heme oxygenase 1 gene DOID:4724 brain edema ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage;mRNA, protein:increased expression:brain PMID:23438812|REF_RGD_ID:10766444 8813446 Hmox1 heme oxygenase 1 gene DOID:5041 esophageal cancer ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:20498946|REF_RGD_ID:4145286 8813446 Hmox1 heme oxygenase 1 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:2806 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 8813446 Hmox1 heme oxygenase 1 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:730901 D RGD:9068941 20200903 RGD protein:increased expression:lung, endothelial cell PMID:32209028|REF_RGD_ID:38549370 8813446 Hmox1 heme oxygenase 1 gene DOID:552 pneumonia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16582079 8813446 Hmox1 heme oxygenase 1 gene DOID:552 pneumonia susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats) PMID:16582079|REF_RGD_ID:1601608 8813446 Hmox1 heme oxygenase 1 gene DOID:5679 retinal disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 8813446 Hmox1 heme oxygenase 1 gene DOID:583 hemolytic anemia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 8813446 Hmox1 heme oxygenase 1 gene DOID:5844 myocardial infarction ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12392996|PMID:20925964|REF_RGD_ID:1598393|REF_RGD_ID:4145134 8813446 Hmox1 heme oxygenase 1 gene DOID:6000 congestive heart failure ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 8813446 Hmox1 heme oxygenase 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23592614|REF_RGD_ID:10755584 8813446 Hmox1 heme oxygenase 1 gene DOID:630 genetic disease ISO RGD:730901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8813446 Hmox1 heme oxygenase 1 gene DOID:6432 pulmonary hypertension ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:20957739|REF_RGD_ID:4145325 8813446 Hmox1 heme oxygenase 1 gene DOID:6432 pulmonary hypertension ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:14970910|PMID:19409105|REF_RGD_ID:1582715|REF_RGD_ID:4145307 8813446 Hmox1 heme oxygenase 1 gene DOID:6432 pulmonary hypertension ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:20957739|REF_RGD_ID:4145325 8813446 Hmox1 heme oxygenase 1 gene DOID:750 peptic ulcer disease ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20610858|REF_RGD_ID:4145283 8813446 Hmox1 heme oxygenase 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:12182912|REF_RGD_ID:1580455 8813446 Hmox1 heme oxygenase 1 gene DOID:783 end stage renal disease ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22622455 8813446 Hmox1 heme oxygenase 1 gene DOID:7998 hyperthyroidism treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23623788|REF_RGD_ID:10755742 8813446 Hmox1 heme oxygenase 1 gene DOID:8440 ileus treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22921918|REF_RGD_ID:10755726 8813446 Hmox1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:17264168|REF_RGD_ID:4145370 8813446 Hmox1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:10717 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:16309574|REF_RGD_ID:4143390 8813446 Hmox1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:2806 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury; protein:increased expression:lung PMID:20663303|REF_RGD_ID:4140396 8813446 Hmox1 heme oxygenase 1 gene DOID:850 lung disease ISO RGD:2806 D RGD:9068941 20200609 RGD acute lung injury PMID:19024100|PMID:20638132|REF_RGD_ID:4145327|REF_RGD_ID:4145350 8813446 Hmox1 heme oxygenase 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:22139798|REF_RGD_ID:10755566 8813446 Hmox1 heme oxygenase 1 gene DOID:8927 learning disability ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11718997 8813446 Hmox1 heme oxygenase 1 gene DOID:900 hepatopulmonary syndrome ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21518603|REF_RGD_ID:10755724 8813446 Hmox1 heme oxygenase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23943397|REF_RGD_ID:10766443 8813446 Hmox1 heme oxygenase 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12958158|REF_RGD_ID:1598396 8813446 Hmox1 heme oxygenase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647439|PMID:22490514 8813446 Hmox1 heme oxygenase 1 gene DOID:9000310 Lung Injury ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17365036 8813446 Hmox1 heme oxygenase 1 gene DOID:9000352 Vascular System Injuries ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19234301 8813446 Hmox1 heme oxygenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:16543643|REF_RGD_ID:1582702 8813446 Hmox1 heme oxygenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA:increased expression:subarachnoid space PMID:19686725|REF_RGD_ID:4145300 8813446 Hmox1 heme oxygenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14657544|REF_RGD_ID:1598406 8813446 Hmox1 heme oxygenase 1 gene DOID:9000528 Coronary Disease ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:15869055|REF_RGD_ID:1598404 8813446 Hmox1 heme oxygenase 1 gene DOID:9000774 Brain Death ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:23356498|REF_RGD_ID:10755728 8813446 Hmox1 heme oxygenase 1 gene DOID:9000774 Brain Death treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20819234|REF_RGD_ID:10766439 8813446 Hmox1 heme oxygenase 1 gene DOID:9000784 Fibrosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18784349 8813446 Hmox1 heme oxygenase 1 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:22247972|REF_RGD_ID:10755582 8813446 Hmox1 heme oxygenase 1 gene DOID:9000884 Rhabdomyolysis treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21726176|REF_RGD_ID:10766438 8813446 Hmox1 heme oxygenase 1 gene DOID:9000972 Fever ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:glial cell PMID:12834255|REF_RGD_ID:1304397 8813446 Hmox1 heme oxygenase 1 gene DOID:9000998 Brain Injuries ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23470432|REF_RGD_ID:10755702 8813446 Hmox1 heme oxygenase 1 gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23142244|REF_RGD_ID:10755740 8813446 Hmox1 heme oxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19554654|REF_RGD_ID:4145305 8813446 Hmox1 heme oxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16025519|PMID:16610050|PMID:21163135|PMID:25380136 8813446 Hmox1 heme oxygenase 1 gene DOID:9001600 Wounds and Injuries ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12649161 8813446 Hmox1 heme oxygenase 1 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:11135063|REF_RGD_ID:10755562 8813446 Hmox1 heme oxygenase 1 gene DOID:9001627 Pathologic Constriction ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20022212|REF_RGD_ID:4145296 8813446 Hmox1 heme oxygenase 1 gene DOID:9001650 Pregnancy-Induced Hypertension treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21383306|REF_RGD_ID:10755723 8813446 Hmox1 heme oxygenase 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20514418|REF_RGD_ID:10755719 8813446 Hmox1 heme oxygenase 1 gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20819606|REF_RGD_ID:10755727 8813446 Hmox1 heme oxygenase 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Glaucoma PMID:20357190|REF_RGD_ID:4145289 8813446 Hmox1 heme oxygenase 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10717 D RGD:9068941 20200609 RGD associated with influenza;protein:increased expression:lung PMID:17348295|REF_RGD_ID:4145366 8813446 Hmox1 heme oxygenase 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20446775|REF_RGD_ID:10755725 8813446 Hmox1 heme oxygenase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21849637|REF_RGD_ID:10755581 8813446 Hmox1 heme oxygenase 1 gene DOID:9002221 Hyperplasia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19234301 8813446 Hmox1 heme oxygenase 1 gene DOID:9002254 Dilatation, Pathologic ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:15057912|REF_RGD_ID:1580452 8813446 Hmox1 heme oxygenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25246272 8813446 Hmox1 heme oxygenase 1 gene DOID:9002473 Blast Crisis ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:22139798|REF_RGD_ID:10755566 8813446 Hmox1 heme oxygenase 1 gene DOID:9002514 Neointima treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21804207|REF_RGD_ID:10755571 8813446 Hmox1 heme oxygenase 1 gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19646271|REF_RGD_ID:4145302 8813446 Hmox1 heme oxygenase 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12401953 8813446 Hmox1 heme oxygenase 1 gene DOID:9003230 Graft Occlusion, Vascular ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12958201|REF_RGD_ID:1598395 8813446 Hmox1 heme oxygenase 1 gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19520142|PMID:20422170|REF_RGD_ID:4145288|REF_RGD_ID:4145306 8813446 Hmox1 heme oxygenase 1 gene DOID:9003603 Hemolysis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 8813446 Hmox1 heme oxygenase 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: nasal mucosa PMID:16540907|REF_RGD_ID:4145406 8813446 Hmox1 heme oxygenase 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:25447631|REF_RGD_ID:10766440 8813446 Hmox1 heme oxygenase 1 gene DOID:9003936 Cardiomegaly ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15226216 8813446 Hmox1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12919086|PMID:16699460|REF_RGD_ID:1582708|REF_RGD_ID:4145514 8813446 Hmox1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:serum, Bronchoalveolar Lavage Fluid PMID:19885035|REF_RGD_ID:4145338 8813446 Hmox1 heme oxygenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12352873|PMID:16982915|PMID:17660127|PMID:17906103|PMID:23075401|PMID:25780291 8813446 Hmox1 heme oxygenase 1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:23475767|REF_RGD_ID:10755753 8813446 Hmox1 heme oxygenase 1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23475767|REF_RGD_ID:10755753 8813446 Hmox1 heme oxygenase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24211270 8813446 Hmox1 heme oxygenase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:20850789|REF_RGD_ID:4145326 8813446 Hmox1 heme oxygenase 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:20360627|REF_RGD_ID:4140418 8813446 Hmox1 heme oxygenase 1 gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:24748974|REF_RGD_ID:10755718 8813446 Hmox1 heme oxygenase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:730901 D RGD:9068941 20231005 CTD CTD Direct Evidence: marker/mechanism PMID:15688187|PMID:18508827|PMID:31227482 8813446 Hmox1 heme oxygenase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16319139 8813446 Hmox1 heme oxygenase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23215791|REF_RGD_ID:10755708 8813446 Hmox1 heme oxygenase 1 gene DOID:9005372 Inflammation ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12649161|PMID:16982915|PMID:23451061|PMID:29086419 8813446 Hmox1 heme oxygenase 1 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21296072|REF_RGD_ID:10755745 8813446 Hmox1 heme oxygenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:15734859|REF_RGD_ID:1582713 8813446 Hmox1 heme oxygenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16123366|PMID:16959961|PMID:18375438|PMID:19804535 8813446 Hmox1 heme oxygenase 1 gene DOID:9005785 Altitude Sickness ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:23537263|REF_RGD_ID:10755714 8813446 Hmox1 heme oxygenase 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21396999|REF_RGD_ID:10755715 8813446 Hmox1 heme oxygenase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:12230867|REF_RGD_ID:1598397 8813446 Hmox1 heme oxygenase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14587309|REF_RGD_ID:1598408 8813446 Hmox1 heme oxygenase 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:21291499|REF_RGD_ID:10755580 8813446 Hmox1 heme oxygenase 1 gene DOID:9006257 Growth Disorders ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9884342 8813446 Hmox1 heme oxygenase 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:22193921|REF_RGD_ID:10763276 8813446 Hmox1 heme oxygenase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18227147 8813446 Hmox1 heme oxygenase 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21227458|REF_RGD_ID:10755577 8813446 Hmox1 heme oxygenase 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23453443|PMID:23853776|REF_RGD_ID:10412713|REF_RGD_ID:9586347 8813446 Hmox1 heme oxygenase 1 gene DOID:9007096 Stroke ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:14753445|REF_RGD_ID:1598410 8813446 Hmox1 heme oxygenase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:15734859|REF_RGD_ID:1582713 8813446 Hmox1 heme oxygenase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8813446 Hmox1 heme oxygenase 1 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:15064108|REF_RGD_ID:1598399 8813446 Hmox1 heme oxygenase 1 gene DOID:9007188 Liver Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17002867 8813446 Hmox1 heme oxygenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18227147|PMID:22688006 8813446 Hmox1 heme oxygenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10717 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8813446 Hmox1 heme oxygenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:22886620|PMID:29091898|REF_RGD_ID:10762620|REF_RGD_ID:15090820 8813446 Hmox1 heme oxygenase 1 gene DOID:9007692 Insulin Resistance ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18375438|PMID:19171794 8813446 Hmox1 heme oxygenase 1 gene DOID:9007692 Insulin Resistance ISO RGD:730901 D RGD:9068941 20200609 RGD mRNA:decreased expression:muscle:defective protection against oxidative stress PMID:12941774|REF_RGD_ID:1601621 8813446 Hmox1 heme oxygenase 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:19362701|REF_RGD_ID:10766423 8813446 Hmox1 heme oxygenase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:12709584|REF_RGD_ID:1598392 8813446 Hmox1 heme oxygenase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2806 D RGD:9068941 20200609 RGD PMID:22179023|REF_RGD_ID:10755573 8813446 Hmox1 heme oxygenase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:23921302|REF_RGD_ID:10755585 8813446 Hmox1 heme oxygenase 1 gene DOID:9008114 Helicobacter Infections ISO RGD:730901 D RGD:9068941 20200609 RGD PMID:16100019|REF_RGD_ID:1598398 8813446 Hmox1 heme oxygenase 1 gene DOID:9008173 Paraparesis treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Lathyrism PMID:23068093|REF_RGD_ID:10766441 8813446 Hmox1 heme oxygenase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8813446 Hmox1 heme oxygenase 1 gene DOID:9008996 Heme Oxygenase 1 Deficiency ISO RGD:730901 D RGD:7240710 20240313 OMIM 8813446 Hmox1 heme oxygenase 1 gene DOID:9008996 Heme Oxygenase 1 Deficiency ISO RGD:730901 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Heme oxygenase 1 deficiency PMID:21088618|PMID:22023467|PMID:25741868|PMID:26526137|PMID:27662012|PMID:28492532|PMID:32587840|PMID:33066778|PMID:9884342 8813446 Hmox1 heme oxygenase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:2806 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, spleen PMID:19268504|REF_RGD_ID:10755700 8813446 Hmox1 heme oxygenase 1 gene DOID:9146 visceral leishmaniasis ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461696 8813446 Hmox1 heme oxygenase 1 gene DOID:9146 visceral leishmaniasis treatment ISO RGD:730901 D RGD:9068941 20210312 RGD PMID:23729024|REF_RGD_ID:42724459 8813446 Hmox1 heme oxygenase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12136229|PMID:16123366|PMID:16959961 8813446 Hmox1 heme oxygenase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:17991645|REF_RGD_ID:10755699 8813446 Hmox1 heme oxygenase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2806 D RGD:9068941 20200609 RGD associated with Obesity PMID:23731386|REF_RGD_ID:8695927 8813446 Hmox1 heme oxygenase 1 gene DOID:9675 pulmonary emphysema ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631150 8813446 Hmox1 heme oxygenase 1 gene DOID:9675 pulmonary emphysema susceptibility ISO RGD:730901 D RGD:9068941 20200609 RGD DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats) PMID:10631150|REF_RGD_ID:1601606 8813446 Hmox1 heme oxygenase 1 gene DOID:9970 obesity ISO RGD:730901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18334666|PMID:18375438|PMID:19171794 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:731380 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:26467025|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28888069|PMID:28967629|PMID:28975462|PMID:29625556|PMID:31523922|PMID:31850270|PMID:32337346|PMID:32376792|PMID:33146414|PMID:3856385|PMID:9536098 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:731380 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:23806086|PMID:24088041|PMID:25741868|PMID:25986071|PMID:26257172|PMID:28492532|PMID:31850270|PMID:32376792 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:731381 D RGD:9068941 20220825 MouseDO OMIM:252010 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:731380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:25741868|PMID:28842795 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:731380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ISO RGD:731380 D RGD:7240710 20180130 OMIM 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ISO RGD:731380 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation PMID:15693857|PMID:20362274|PMID:20652413|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24002164|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28967629|PMID:31523922|PMID:32376792|PMID:3856385|PMID:7887410 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:731380 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle: PMID:19332114|REF_RGD_ID:10053590 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0111502 combined oxidative phosphorylation deficiency 6 ISO RGD:731380 D RGD:7240710 20180130 OMIM 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0111502 combined oxidative phosphorylation deficiency 6 ISO RGD:731380 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy PMID:20362274|PMID:20652413|PMID:22019070|PMID:24002164|PMID:25583628|PMID:25741868|PMID:25986071|PMID:26173962|PMID:26467025|PMID:28492532|PMID:31850270 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0111741 X-linked deafness 5 ISO RGD:731380 D RGD:7240710 20180130 OMIM 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:0111741 X-linked deafness 5 ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 PMID:16816020|PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:10003 sensorineural hearing loss ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25590979|PMID:25741868|PMID:28492532|PMID:28967629|PMID:31523922 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:10283 prostate cancer ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:10579 leukodystrophy ISO RGD:731380 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:28842795 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:731380 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:25741868|PMID:28842795 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:620817 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:23951212|REF_RGD_ID:10053563 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:1059 intellectual disability ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:10652 Alzheimer's disease ISO RGD:731380 D RGD:9068941 20200609 RGD protein:increased expression:basal forebrain,amygdala: PMID:22536549|REF_RGD_ID:10053593 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:10652 Alzheimer's disease ISO RGD:731381 D RGD:9068941 20200609 RGD protein:increased expression:cortex,nucleus: PMID:24915960|REF_RGD_ID:10053592 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:12849 autistic disorder ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:12858 Huntington's disease ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12930891 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:224 transient cerebral ischemia ISO RGD:620817 D RGD:9068941 20200609 RGD mRNA:decreased expression, altered localization:CA1 pyramidal layer, nucleus: PMID:14526224|REF_RGD_ID:10047409 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:224 transient cerebral ischemia ISO RGD:731381 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:15087715|REF_RGD_ID:10053562 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:620817 D RGD:9068941 20200609 RGD protein:altered localization: : PMID:15181376|REF_RGD_ID:10047403 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:5327 retinal detachment ISO RGD:620817 D RGD:9068941 20200609 RGD protein:altered localization:photoreceptor,nucleus: PMID:11290545|REF_RGD_ID:10047408 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:5327 retinal detachment ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:574 peripheral nervous system disease ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:630 genetic disease ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:25583628|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:27102849|PMID:28492532|PMID:28842795|PMID:32376792|PMID:3856385|PMID:9536098 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:870 neuropathy ISO RGD:731380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9000068 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy ISO RGD:731380 D RGD:7240710 20191211 OMIM 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9000068 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy ISO RGD:731380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9000998 Brain Injuries ISO RGD:620817 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:12091479|REF_RGD_ID:10053567 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9001890 Auditory Neuropathy ISO RGD:731380 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9002408 Sketetal Dysplasia Coarse Facies Mental Retardation ISO RGD:731380 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620817 D RGD:9068941 20200609 RGD PMID:28108258|REF_RGD_ID:13524865 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620817 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:12871572|REF_RGD_ID:10053564 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9004953 Diabetic Cystopathy ISO RGD:620817 D RGD:9068941 20200609 RGD protein:increased expression:nuclei: PMID:20879002|REF_RGD_ID:10053565 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9005749 Necrosis ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16532269 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25743375 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620817 D RGD:9068941 20200609 RGD protein:decreased expression:mitochondrion: PMID:23685150|REF_RGD_ID:10053560 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731381 D RGD:9068941 20200609 RGD PMID:23685150|REF_RGD_ID:10053560 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9008784 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency ISO RGD:731380 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency PMID:25741868 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9008824 Sarcopenia severity ISO RGD:620817 D RGD:9068941 20200609 RGD RNA:increased expression:plantaris muscle: PMID:17029665|REF_RGD_ID:2325745 8813455 Aifm1 apoptosis inducing factor mitochondria associated 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 8813491 Uso1 USO1 vesicle transport factor gene DOID:37 skin disease ISO RGD:733099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8813491 Uso1 USO1 vesicle transport factor gene DOID:891 progressive myoclonus epilepsy ISO RGD:733099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8813491 Uso1 USO1 vesicle transport factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:733099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8813491 Uso1 USO1 vesicle transport factor gene DOID:9007964 Arsenic Poisoning ISO RGD:733099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8813518 Ess2 ess-2 splicing factor homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8813518 Ess2 ess-2 splicing factor homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1317866 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8813518 Ess2 ess-2 splicing factor homolog gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1317866 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8813518 Ess2 ess-2 splicing factor homolog gene DOID:0111996 immunodeficiency 51 ISO RGD:1317866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8813518 Ess2 ess-2 splicing factor homolog gene DOID:1059 intellectual disability ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8813518 Ess2 ess-2 splicing factor homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1317866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8813518 Ess2 ess-2 splicing factor homolog gene DOID:11372 megacolon ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8813518 Ess2 ess-2 splicing factor homolog gene DOID:12583 velocardiofacial syndrome ISO RGD:1317866 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8813518 Ess2 ess-2 splicing factor homolog gene DOID:12849 autistic disorder ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8813518 Ess2 ess-2 splicing factor homolog gene DOID:1826 epilepsy ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8813518 Ess2 ess-2 splicing factor homolog gene DOID:5419 schizophrenia ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8813518 Ess2 ess-2 splicing factor homolog gene DOID:612 primary immunodeficiency disease ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8813518 Ess2 ess-2 splicing factor homolog gene DOID:630 genetic disease ISO RGD:1317866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813518 Ess2 ess-2 splicing factor homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8813518 Ess2 ess-2 splicing factor homolog gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1317866 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8813534 Polr3e RNA polymerase III subunit E gene DOID:0060399 chromosome 16p12.1 deletion syndrome ISO RGD:1317654 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb PMID:25741868 8813534 Polr3e RNA polymerase III subunit E gene DOID:12849 autistic disorder ISO RGD:1317654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8813534 Polr3e RNA polymerase III subunit E gene DOID:5419 schizophrenia ISO RGD:1317654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8813534 Polr3e RNA polymerase III subunit E gene DOID:630 genetic disease ISO RGD:1317654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060001 withdrawal disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18184829 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060041 autism spectrum disorder ISO RGD:735795 D RGD:9068941 20220825 MouseDO 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:11062464|PMID:11104662|PMID:11906688|PMID:17576681|PMID:18414213|PMID:20736995|PMID:21703448|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733218 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:11062464|PMID:11104662|PMID:11906688|PMID:16199547|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:19059498|PMID:19237585|PMID:20736995|PMID:21703448|PMID:22036597|PMID:22897520|PMID:25741868|PMID:26467025|PMID:26475232|PMID:27336596|PMID:28488083|PMID:28492532|PMID:9536098 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 ISO RGD:733218 D RGD:7240710 20180130 OMIM 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 ISO RGD:733218 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3 PMID:11062464|PMID:11094099|PMID:11104662|PMID:11906688|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:19059498|PMID:19237585|PMID:20736995|PMID:21703448|PMID:22036597|PMID:22897520|PMID:25741868|PMID:26467025|PMID:26475232|PMID:27336596|PMID:28492532|PMID:9536098 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:733218 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:11062464|PMID:11104662|PMID:11906688|PMID:16199547|PMID:17576681|PMID:17900292|PMID:18414213|PMID:18456869|PMID:19059498|PMID:19237585|PMID:20736995|PMID:21703448|PMID:22036597|PMID:22897520|PMID:25741868|PMID:26467025|PMID:26475232|PMID:27336596|PMID:28488083|PMID:28492532|PMID:9536098 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0111940 immunodeficiency 42 ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1059 intellectual disability ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:10652 Alzheimer's disease ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21748252 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735795 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:12849 autistic disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15046869 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1540 parathyroid carcinoma ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:1826 epilepsy ISO RGD:733218 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26475232|PMID:28492532 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:2030 anxiety disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23419392 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:3327 partial motor epilepsy ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal clonic seizure PMID:25741868 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:3331 frontal lobe epilepsy ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14996991 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:535 sleep disorder ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12228730 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:5812 MHC class II deficiency ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:630 genetic disease ISO RGD:733218 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11906688|PMID:17576681|PMID:18414213|PMID:20736995|PMID:21703448|PMID:25741868|PMID:26467025|PMID:26475232|PMID:28488083|PMID:28492532|PMID:9536098 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9002395 Hypothermia ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14982698 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9002955 Nerve Degeneration ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21715663 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9005219 Abnormal Reflexes ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23419392 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9005372 Inflammation ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20943775 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9007 sudden infant death syndrome ISO RGD:733218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000980 8813589 Chrnb2 cholinergic receptor nicotinic beta 2 subunit gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8813603 Lrfn3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1313671 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8813603 Lrfn3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1313671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8813603 Lrfn3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1313671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8813603 Lrfn3 leucine rich repeat and fibronectin type III domain containing 3 gene DOID:630 genetic disease ISO RGD:1313671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813610 Ehd4 EH domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:734140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8813610 Ehd4 EH domain containing 4 gene DOID:630 genetic disease ISO RGD:734140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813610 Ehd4 EH domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:734140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8813619 Wdr81 WD repeat domain 81 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1606736 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex PMID:25741868 8813619 Wdr81 WD repeat domain 81 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1606736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 8813619 Wdr81 WD repeat domain 81 gene DOID:0112234 microlissencephaly ISO RGD:1606736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microlissencephaly 8813619 Wdr81 WD repeat domain 81 gene DOID:1059 intellectual disability ISO RGD:1606736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16371500|PMID:21885617|PMID:25741868 8813619 Wdr81 WD repeat domain 81 gene DOID:10907 microcephaly ISO RGD:1606736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:32581362 8813619 Wdr81 WD repeat domain 81 gene DOID:630 genetic disease ISO RGD:1606736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26437881|PMID:28097321|PMID:28492532|PMID:28940097|PMID:30560021|PMID:31363758|PMID:31785789 8813619 Wdr81 WD repeat domain 81 gene DOID:9006893 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 ISO RGD:1606736 D RGD:7240710 20180130 OMIM 8813619 Wdr81 WD repeat domain 81 gene DOID:9006893 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 ISO RGD:1606736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 PMID:16371500|PMID:21885617|PMID:25741868|PMID:26437881|PMID:28097321|PMID:28492532|PMID:28940097|PMID:28969387 8813619 Wdr81 WD repeat domain 81 gene DOID:9008539 Perinatal Death ISO RGD:1606736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065|PMID:25741868|PMID:28556411 8813619 Wdr81 WD repeat domain 81 gene DOID:9009189 Congenital Hydrocephalus 3, with Brain Anomalies ISO RGD:1606736 D RGD:7240710 20190315 OMIM 8813619 Wdr81 WD repeat domain 81 gene DOID:9009189 Congenital Hydrocephalus 3, with Brain Anomalies ISO RGD:1606736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hydrocephalus, congenital, 3, with brain anomalies PMID:16371500|PMID:21885617|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28556411|PMID:30560021|PMID:31363758 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1314385 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1314385 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:0111699 Van den Ende-Gupta syndrome ISO RGD:1314385 D RGD:7240710 20180130 OMIM 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:0111699 Van den Ende-Gupta syndrome ISO RGD:1314385 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Van den Ende-Gupta syndrome PMID:20887961|PMID:21108395|PMID:23808541|PMID:24478002|PMID:25741868|PMID:28492532|PMID:33783941|PMID:35256560 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:1059 intellectual disability ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:10907 microcephaly ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1314385 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:11372 megacolon ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1314385 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:12849 autistic disorder ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:1826 epilepsy ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:2213 hemorrhagic disease ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:5419 schizophrenia ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:630 genetic disease ISO RGD:1314385 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:9003871 Venous Thrombosis ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8813649 Scarf2 scavenger receptor class F member 2 gene DOID:9008964 Spermatogenic Failure 52 ISO RGD:12382097 D RGD:9068941 20230824 OMIA Van den Ende-Gupta syndrome PMID:27187611|PMID:27803843|PMID:37582787 8813664 Caprin1 cell cycle associated protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1313896 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8813664 Caprin1 cell cycle associated protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1313896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8813664 Caprin1 cell cycle associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1313896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8813664 Caprin1 cell cycle associated protein 1 gene DOID:12849 autistic disorder ISO RGD:1313896 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8813664 Caprin1 cell cycle associated protein 1 gene DOID:2234 focal epilepsy ISO RGD:1313896 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 8813664 Caprin1 cell cycle associated protein 1 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1313896 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy PMID:25741868|PMID:35979925 8813664 Caprin1 cell cycle associated protein 1 gene DOID:630 genetic disease ISO RGD:1313896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813664 Caprin1 cell cycle associated protein 1 gene DOID:9004553 NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE ISO RGD:1313896 D RGD:7240710 20240306 OMIM 8813664 Caprin1 cell cycle associated protein 1 gene DOID:9004553 NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE ISO RGD:1313896 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline PMID:25741868 8813694 Lmntd2 lamin tail domain containing 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8813694 Lmntd2 lamin tail domain containing 2 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1603159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8813694 Lmntd2 lamin tail domain containing 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1603159 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8813694 Lmntd2 lamin tail domain containing 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8813694 Lmntd2 lamin tail domain containing 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8813694 Lmntd2 lamin tail domain containing 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8813694 Lmntd2 lamin tail domain containing 2 gene DOID:630 genetic disease ISO RGD:1603159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813745 Izumo4 IZUMO family member 4 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1349340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8813745 Izumo4 IZUMO family member 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1349340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8813745 Izumo4 IZUMO family member 4 gene DOID:630 genetic disease ISO RGD:1349340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813745 Izumo4 IZUMO family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8813783 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:2377 multiple sclerosis ISO RGD:1346893 D RGD:9068941 20200609 RGD PMID:14688203|REF_RGD_ID:5686803 8813783 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1303075 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:24670792|REF_RGD_ID:10445835 8813783 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1346893 D RGD:9068941 20220519 RGD protein:increased expression:liver (human) PMID:24796583|REF_RGD_ID:152177907 8813783 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:4989 pancreatitis ISO RGD:1303075 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:19346995|REF_RGD_ID:5686868 8813783 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1346893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8813783 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:630 genetic disease ISO RGD:1346893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813783 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:767 muscular atrophy ISO RGD:1303075 D RGD:9068941 20200609 RGD mRNA:decreased expression:soleus muscle (rat) PMID:21639837|REF_RGD_ID:5686383 8813783 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1303075 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord (rat) PMID:24499940|REF_RGD_ID:10445836 8813783 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 8813783 Hsp90ab1 heat shock protein 90 alpha family class B member 1 gene DOID:9007456 Female Infertility ISO RGD:1346893 D RGD:9068941 20200609 RGD PMID:19022436|REF_RGD_ID:10445839 8813800 Rps25 ribosomal protein S25 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8813800 Rps25 ribosomal protein S25 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1353637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8813800 Rps25 ribosomal protein S25 gene DOID:0080690 RASopathy ISO RGD:1353637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8813800 Rps25 ribosomal protein S25 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8813800 Rps25 ribosomal protein S25 gene DOID:0110651 long QT syndrome 10 ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8813800 Rps25 ribosomal protein S25 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8813800 Rps25 ribosomal protein S25 gene DOID:0111971 immunodeficiency 18 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8813800 Rps25 ribosomal protein S25 gene DOID:0111972 immunodeficiency 19 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8813800 Rps25 ribosomal protein S25 gene DOID:0111973 immunodeficiency 17 ISO RGD:1353637 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8813800 Rps25 ribosomal protein S25 gene DOID:5419 schizophrenia ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8813800 Rps25 ribosomal protein S25 gene DOID:630 genetic disease ISO RGD:1353637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813800 Rps25 ribosomal protein S25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8813800 Rps25 ribosomal protein S25 gene DOID:9007661 Dwarfism ISO RGD:1353637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8813809 Rab22a RAB22A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1323682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813841 Nlrc4 NLR family CARD domain containing 4 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1320383 D RGD:7240710 20180130 OMIM 8813841 Nlrc4 NLR family CARD domain containing 4 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1320383 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24033266|PMID:25217959|PMID:25217960|PMID:25385754|PMID:25741868|PMID:27974463|PMID:28492532|PMID:29326099|PMID:29778503|PMID:30783801|PMID:30864118|PMID:32081864|PMID:32529290|PMID:33822359|PMID:34248956|PMID:9536098 8813841 Nlrc4 NLR family CARD domain containing 4 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1320383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868|PMID:28492532 8813841 Nlrc4 NLR family CARD domain containing 4 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1320383 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24033266|PMID:25741868|PMID:28492532 8813841 Nlrc4 NLR family CARD domain containing 4 gene DOID:607 paraplegia ISO RGD:1320383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:32581362 8813841 Nlrc4 NLR family CARD domain containing 4 gene DOID:630 genetic disease ISO RGD:1320383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8813841 Nlrc4 NLR family CARD domain containing 4 gene DOID:9002798 Macrophage Activation Syndrome ISO RGD:1320383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217959 8813841 Nlrc4 NLR family CARD domain containing 4 gene DOID:9002805 Enterocolitis ISO RGD:1320383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217960 8813841 Nlrc4 NLR family CARD domain containing 4 gene DOID:9006364 Hereditary Autoinflammatory Diseases ISO RGD:1320383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217959|PMID:25217960 8813841 Nlrc4 NLR family CARD domain containing 4 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1320383 D RGD:7240710 20180130 OMIM 8813841 Nlrc4 NLR family CARD domain containing 4 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1320383 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis | ClinVar Annotator: match by term: Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24033266|PMID:25217959|PMID:25217960|PMID:25385754|PMID:25741868|PMID:27974463|PMID:28492532|PMID:29326099|PMID:29778503|PMID:30319625|PMID:30783801|PMID:30864118|PMID:32081864|PMID:32529290|PMID:33822359|PMID:34248956|PMID:9536098 8813841 Nlrc4 NLR family CARD domain containing 4 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1320383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8813859 Cpsf2 cleavage and polyadenylation specific factor 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1320166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8813859 Cpsf2 cleavage and polyadenylation specific factor 2 gene DOID:630 genetic disease ISO RGD:1320166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813896 Swsap1 SWIM-type zinc finger 7 associated protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8813896 Swsap1 SWIM-type zinc finger 7 associated protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8813896 Swsap1 SWIM-type zinc finger 7 associated protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1601725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8813896 Swsap1 SWIM-type zinc finger 7 associated protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1601725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8813896 Swsap1 SWIM-type zinc finger 7 associated protein 1 gene DOID:630 genetic disease ISO RGD:1601725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813902 Gas2l3 growth arrest specific 2 like 3 gene DOID:0080600 COVID-19 ISO RGD:1315710 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8813902 Gas2l3 growth arrest specific 2 like 3 gene DOID:630 genetic disease ISO RGD:1315710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813919 Sec14l4 SEC14 like lipid binding 4 gene DOID:630 genetic disease ISO RGD:1343842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813947 Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1342711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8813947 Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1342711 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8813947 Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:1826 epilepsy ISO RGD:1342711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8813947 Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8813947 Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 gene DOID:630 genetic disease ISO RGD:1342711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813963 Immp1l inner mitochondrial membrane peptidase subunit 1 gene DOID:0070532 aniridia 1 ISO RGD:1601711 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10737978|PMID:11284764|PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28231309|PMID:28492532 8813963 Immp1l inner mitochondrial membrane peptidase subunit 1 gene DOID:1059 intellectual disability ISO RGD:1601711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8813963 Immp1l inner mitochondrial membrane peptidase subunit 1 gene DOID:12271 aniridia ISO RGD:1601711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 8813963 Immp1l inner mitochondrial membrane peptidase subunit 1 gene DOID:3764 Denys-Drash syndrome ISO RGD:1601711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 8813963 Immp1l inner mitochondrial membrane peptidase subunit 1 gene DOID:5419 schizophrenia ISO RGD:1601711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8813963 Immp1l inner mitochondrial membrane peptidase subunit 1 gene DOID:630 genetic disease ISO RGD:1601711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8813991 Fkbp7 FKBP prolyl isomerase 7 gene DOID:0090048 dystonia 16 ISO RGD:1313236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532 8813991 Fkbp7 FKBP prolyl isomerase 7 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1313236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 8813991 Fkbp7 FKBP prolyl isomerase 7 gene DOID:630 genetic disease ISO RGD:1313236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814015 Meis1 Meis homeobox 1 gene DOID:0050425 restless legs syndrome ISO RGD:1315277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17637780|PMID:28604731 8814015 Meis1 Meis homeobox 1 gene DOID:114 heart disease ISO RGD:1315277 D RGD:9068941 20221027 RGD mRNA, protein:decreased expression:heart (human) PMID:26597775|REF_RGD_ID:11554891 8814015 Meis1 Meis homeobox 1 gene DOID:630 genetic disease ISO RGD:1315277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814015 Meis1 Meis homeobox 1 gene DOID:9003936 Cardiomegaly ISO RGD:1550525 D RGD:9068941 20221027 RGD mRNA, protein:decreased expression:heart (mouse) PMID:26597775|REF_RGD_ID:11554891 8814015 Meis1 Meis homeobox 1 gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1315277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604731 8814015 Meis1 Meis homeobox 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1315277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776672 8814057 Tbc1d8 TBC1 domain family member 8 gene DOID:630 genetic disease ISO RGD:1347118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1347904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:0050476 Barth syndrome ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1347904 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:12134 factor VIII deficiency ISO RGD:1347904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:12849 autistic disorder ISO RGD:1347904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:13628 favism ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1347904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:299 adenocarcinoma ISO RGD:1347904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:607 paraplegia ISO RGD:1347904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1347904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:9002720 Splenomegaly ISO RGD:1347904 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8814082 Mpp1 MAGUK p55 scaffold protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1347904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8814098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:731495 D RGD:7240710 20180130 OMIM 8814098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:731495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2A | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa PMID:11228641|PMID:20684000|PMID:22105986|PMID:23806237|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28742265|PMID:8808595 8814098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0110612 primary ciliary dyskinesia 10 ISO RGD:731495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 PMID:24033266|PMID:25741868|PMID:28492532 8814098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:731495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 8814098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:731495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8814098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9003281 Spontaneous Abortions ISO RGD:731495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8814098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9004324 Congenital, Hereditary, and Neonatal Diseases and Abnormalities ISO RGD:731496 D RGD:9068941 20200609 RGD PMID:11805078|REF_RGD_ID:1581206 8814098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:731495 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8814098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:731495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20684000|PMID:22105986|PMID:25558065|PMID:28492532|PMID:28742265 8814098 Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:9562 primary ciliary dyskinesia ISO RGD:731495 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:25741868|PMID:28492532 8814108 Ddias DNA damage induced apoptosis suppressor gene DOID:1059 intellectual disability ISO RGD:1602966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8814108 Ddias DNA damage induced apoptosis suppressor gene DOID:630 genetic disease ISO RGD:1602966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814145 Il34 interleukin 34 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8814145 Il34 interleukin 34 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8814145 Il34 interleukin 34 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8814145 Il34 interleukin 34 gene DOID:630 genetic disease ISO RGD:1602184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814179 LOC102005867 protein S100-A8 gene DOID:9000955 Acute Otitis Media IEP D RGD:11553828|PMID:26711468 20161013 RGD mRNA, protein:increased expression:mucosa of middle ear 8814186 Lgals2 galectin 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8814186 Lgals2 galectin 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735390 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8814186 Lgals2 galectin 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8814186 Lgals2 galectin 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8814186 Lgals2 galectin 2 gene DOID:5844 myocardial infarction ISO RGD:735390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:15129282 8814186 Lgals2 galectin 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735390 D RGD:7240710 20190502 OMIM 8814186 Lgals2 galectin 2 gene DOID:630 genetic disease ISO RGD:735390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814186 Lgals2 galectin 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 8814186 Lgals2 galectin 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:735390 D RGD:9068941 20200609 RGD PMID:17040205|REF_RGD_ID:1581853 8814186 Lgals2 galectin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8814197 Cers1 ceramide synthase 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1314323 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: GDF1-related condition | ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 8814197 Cers1 ceramide synthase 1 gene DOID:0050753 cerebellar ataxia treatment ISO RGD:1622181 D RGD:9068941 20230302 RGD PMID:21625621|REF_RGD_ID:156431058 8814197 Cers1 ceramide synthase 1 gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:1622181 D RGD:9068941 20230302 RGD PMID:33753723|REF_RGD_ID:156431057 8814197 Cers1 ceramide synthase 1 gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1314323 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:26633542|PMID:28492532|PMID:28991257|PMID:32144877|PMID:34958143 8814197 Cers1 ceramide synthase 1 gene DOID:0060856 right atrial isomerism ISO RGD:1314323 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Right atrial isomerism PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877|PMID:34486251 8814197 Cers1 ceramide synthase 1 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1314323 D RGD:7240710 20180130 OMIM 8814197 Cers1 ceramide synthase 1 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1314323 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:16199547|PMID:17576681|PMID:17924340|PMID:19243074|PMID:24033266|PMID:24782409|PMID:25741868|PMID:26633542|PMID:28492532|PMID:28991257|PMID:30800706|PMID:34958143|PMID:9536098 8814197 Cers1 ceramide synthase 1 gene DOID:1682 congenital heart disease ISO RGD:1314323 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:26633542|PMID:28492532|PMID:28991257|PMID:34958143 8814197 Cers1 ceramide synthase 1 gene DOID:630 genetic disease ISO RGD:1314323 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17924340|PMID:20413652|PMID:25741868|PMID:28492532|PMID:32144877 8814197 Cers1 ceramide synthase 1 gene DOID:6406 double outlet right ventricle ISO RGD:1314323 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:17924340|PMID:25741868 8814197 Cers1 ceramide synthase 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1314323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:17924340|PMID:28492532 8814197 Cers1 ceramide synthase 1 gene DOID:758 situs inversus ISO RGD:1314323 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:17924340|PMID:20413652|PMID:28492532|PMID:32144877 8814197 Cers1 ceramide synthase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8814197 Cers1 ceramide synthase 1 gene DOID:9005775 Perinatal Asphyxia ISO RGD:1305974 D RGD:9068941 20230302 RGD PMID:23625371|REF_RGD_ID:156431056 8814197 Cers1 ceramide synthase 1 gene DOID:9007692 Insulin Resistance ameliorates ISO RGD:1622181 D RGD:9068941 20230302 RGD PMID:30605666|REF_RGD_ID:156431060 8814197 Cers1 ceramide synthase 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1314323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8814197 Cers1 ceramide synthase 1 gene DOID:9970 obesity ISO RGD:1622181 D RGD:9068941 20230302 RGD mRNA:increased expression:skeletal muscle cell PMID:30605666|REF_RGD_ID:156431060 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0050902 medulloblastoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:24936872|REF_RGD_ID:11522722 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0060058 lymphoma ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0060221 Maffucci syndrome ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE PMID:19657110|PMID:20946881|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0080600 COVID-19 ISO RGD:737145 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:737145 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal extreme pain disorder PMID:25741868|PMID:34298581 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:1909 melanoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2256 osteochondrodysplasia ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Dyschondroplasia PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:255 hemangioma ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2602 chondroma ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22057234|PMID:25895133 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:2671 transitional cell carcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3068 glioblastoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R132(human) PMID:25495392|REF_RGD_ID:11074562 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3068 glioblastoma onset ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R132H(human) PMID:19765000|REF_RGD_ID:11522732 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3070 high grade glioma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:737145 D RGD:7240710 20190502 OMIM 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3181 oligodendroglioma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Oligodendroglioma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:737145 D RGD:9068941 20210723 RGD protein:increased expression:blood plasma (human) PMID:24046070|REF_RGD_ID:149735540 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737145 D RGD:9068941 20210723 RGD mRNA:increased expression:lung (human) PMID:29537891|REF_RGD_ID:149735539 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737145 D RGD:9068941 20210723 RGD protein:increased expression:blood plasma (human) PMID:24046070|REF_RGD_ID:149735540 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:417 autoimmune disease ISO RGD:737145 D RGD:9068941 20200609 RGD associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) PMID:31121195|REF_RGD_ID:14974230 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4624 Ollier disease ISO RGD:737145 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Kast Syndrome | ClinVar Annotator: match by term: Multiple enchondromatosis PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:24728327|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4928 intrahepatic cholangiocarcinoma no_association ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) PMID:26245674|REF_RGD_ID:14974229 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:4947 cholangiocarcinoma ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:misssense mutation:cds:p.Arg132Cys(human) PMID:28403884|REF_RGD_ID:14974227 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs12478635(human) PMID:25355558|REF_RGD_ID:14974228 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:630 genetic disease ISO RGD:737145 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:6536 plasma cell neoplasm ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:8923 skin melanoma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9003571 Paraproteinemias ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9004590 Acute Liver Failure ISO RGD:737145 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9005837 Cholangiofibrosis severity ISO RGD:737145 D RGD:9068941 20200609 RGD associated with intrahepatic cholangiocarcinoma; DNA:missense mutations:cds:p. R132C, R132G, and R132L (human) PMID:31121195|REF_RGD_ID:14974230 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain neoplasm PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brain Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9007502 Brain Neoplasms ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:29950729|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:SNP::105C>T (rs11554137)(human) PMID:25324972|REF_RGD_ID:11522721 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737145 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R132(human) PMID:20368543|REF_RGD_ID:11522718 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9538 multiple myeloma ISO RGD:737145 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:18772396|PMID:19657110|PMID:19798509|PMID:19818334|PMID:20946881|PMID:21352804|PMID:21446021|PMID:22160010|PMID:22397365|PMID:22417203|PMID:22898539|PMID:23558169|PMID:24606448|PMID:25043048|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27993330|PMID:30231226|PMID:36201590 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 8814206 Idh1 isocitrate dehydrogenase (NADP(+)) 1 gene DOID:9970 obesity ISO RGD:10758 D RGD:9068941 20200609 RGD PMID:14969338|REF_RGD_ID:1626475 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060879 primary hypomagnesemia ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomagnesemia 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060884 renal hypomagnesemia 6 ISO RGD:1317777 D RGD:7240710 20180130 OMIM 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060884 renal hypomagnesemia 6 ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypomagnesemia 6 PMID:21397062|PMID:25741868|PMID:28492532 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:0110797 hereditary spastic paraplegia 45 ISO RGD:1317777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 PMID:24482476|PMID:25741868|PMID:28492532 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:557 kidney disease ISO RGD:1317777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23027747 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:630 genetic disease ISO RGD:1317777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23027747 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9005063 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 ISO RGD:1317777 D RGD:7240710 20180130 OMIM 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9005063 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 ISO RGD:1317777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1 PMID:24699222|PMID:25741868|PMID:28492532 8814234 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 gene DOID:9008449 Tetany ISO RGD:1317777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23027747 8814246 Mmp21 matrix metallopeptidase 21 gene DOID:0050545 visceral heterotaxy ISO RGD:1319622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy PMID:24033266|PMID:25741868|PMID:26437028 8814246 Mmp21 matrix metallopeptidase 21 gene DOID:37 skin disease ISO RGD:1319622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984259 8814246 Mmp21 matrix metallopeptidase 21 gene DOID:4415 fibrous histiocytoma ISO RGD:1319622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16984259 8814246 Mmp21 matrix metallopeptidase 21 gene DOID:630 genetic disease ISO RGD:1319622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814246 Mmp21 matrix metallopeptidase 21 gene DOID:9008364 Visceral Heterotaxy 7, Autosomal ISO RGD:1319622 D RGD:7240710 20190315 OMIM 8814246 Mmp21 matrix metallopeptidase 21 gene DOID:9008364 Visceral Heterotaxy 7, Autosomal ISO RGD:1319622 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal | ClinVar Annotator: match by term: MMP21-related condition PMID:24033266|PMID:25741868|PMID:26437028|PMID:28492532 8814261 Fbxo15 F-box protein 15 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1321642 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8814261 Fbxo15 F-box protein 15 gene DOID:630 genetic disease ISO RGD:1321642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814261 Fbxo15 F-box protein 15 gene DOID:6420 pulmonary valve stenosis ISO RGD:1321642 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8814261 Fbxo15 F-box protein 15 gene DOID:8445 intestinal volvulus ISO RGD:1321642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8814261 Fbxo15 F-box protein 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8814261 Fbxo15 F-box protein 15 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1321642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0050589 inflammatory bowel disease ISO RGD:10928 D RGD:9068941 20220825 MouseDO 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060071 pre-malignant neoplasm ISO RGD:3123 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17847023|REF_RGD_ID:7349371 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis ISO RGD:10785 D RGD:9068941 20200609 RGD protein:decreased sulfation:descending colon PMID:12395902|REF_RGD_ID:7349356 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis ISO RGD:3123 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:19220658|REF_RGD_ID:2324675 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0060180 colitis treatment ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:21949848|PMID:23395625|REF_RGD_ID:7349360|REF_RGD_ID:7349385 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0080178 mucositis ISO RGD:3123 D RGD:9068941 20200609 RGD protein:decreased expression:intestine PMID:18998135|REF_RGD_ID:2303603 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:735987 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:11204 allergic conjunctivitis severity ISO RGD:735987 D RGD:9068941 20200609 RGD PMID:17177679|REF_RGD_ID:7349351 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:12236 primary biliary cholangitis ISO RGD:735987 D RGD:9068941 20200609 RGD PMID:18507686|REF_RGD_ID:2324885 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:735987 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa (human) PMID:9155717|REF_RGD_ID:5131426 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:1679 cystitis ISO RGD:735987 D RGD:9068941 20200609 RGD PMID:17659847|REF_RGD_ID:7349345 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:1984 rectal benign neoplasm ISO RGD:735987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:219 colon cancer ISO RGD:3123 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:20459814|REF_RGD_ID:7349368 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:219 colon cancer ISO RGD:3123 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17847023|REF_RGD_ID:7349371 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:10928 D RGD:9068941 20200609 RGD PMID:14594655|REF_RGD_ID:7349354 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:735987 D RGD:9068941 20200609 RGD associated with hypersensitivity PMID:11062147|REF_RGD_ID:5131178 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:299 adenocarcinoma ISO RGD:735987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:9068941 20200609 RGD associated Pancreatic Neoplasms;protein:increased expression:pancreas PMID:12717243|REF_RGD_ID:2317985 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:9068941 20200609 RGD associated with pancreatic neoplasms;protein:increased expression:pancreas PMID:17708554|REF_RGD_ID:2324887 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:9068941 20200609 RGD associated with cholangiocarcinoma;mRNA,protein:increased expression:bile duct PMID:15048136|REF_RGD_ID:2324868 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:735987 D RGD:9068941 20200609 RGD associated with pancreatic diseases;protein:increased expression:pancreas PMID:19954814|REF_RGD_ID:2324889 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:326 ischemia ISO RGD:3123 D RGD:9068941 20200609 RGD protein:decreased expression:jejunum PMID:22768227|REF_RGD_ID:7349363 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:735987 D RGD:9068941 20200609 RGD mRNA:decreased expression:bile duct PMID:11680592|REF_RGD_ID:2324948 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:5082 liver cirrhosis ISO RGD:3123 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:22172882|REF_RGD_ID:7349362 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:5295 intestinal disease treatment ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:22293291|REF_RGD_ID:7349361 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:552 pneumonia treatment ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:23590300|REF_RGD_ID:7349359 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:657 adenoma ISO RGD:735987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:8577 ulcerative colitis ISO RGD:3123 D RGD:9068941 20200609 RGD mRNA:altered expression: : PMID:12870797|REF_RGD_ID:2324685 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3123 D RGD:9068941 20211015 RGD mRNA:decreased expression:ileum PMID:20501441|REF_RGD_ID:2324672 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735987 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:15260848|REF_RGD_ID:2324651 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9000645 Rotavirus Infections ISO RGD:10928 D RGD:9068941 20200609 RGD PMID:15882887|REF_RGD_ID:7349352 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002231 Fetal Growth Retardation ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:19287349|REF_RGD_ID:7349369 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002245 Intestinal Neoplasms ISO RGD:735987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468628 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002953 Escherichia Coli Infections ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:23798529|REF_RGD_ID:7349358 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections ISO RGD:10928 D RGD:9068941 20200609 RGD PMID:20138044|REF_RGD_ID:7349349 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9002992 Nematode Infections ISO RGD:3123 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine PMID:16689826|REF_RGD_ID:2303607 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9004283 Transplant Rejection ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:12717211|REF_RGD_ID:7349372 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9005372 Inflammation ISO RGD:3123 D RGD:9068941 20200609 RGD protein:altered expression:colon PMID:15980276|REF_RGD_ID:8693640 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9005930 Endotoxemia ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:19099858|REF_RGD_ID:7349370 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9006970 Cestode Infections ISO RGD:3123 D RGD:9068941 20200609 RGD PMID:17187651|REF_RGD_ID:7349350 8814309 Muc2 mucin 2, oligomeric mucus/gel-forming gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:735987 D RGD:9068941 20200609 RGD PMID:23011828|REF_RGD_ID:7349348 8814360 Phlda2 pleckstrin homology like domain family A member 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8814360 Phlda2 pleckstrin homology like domain family A member 2 gene DOID:0080600 COVID-19 ISO RGD:1312382 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8814360 Phlda2 pleckstrin homology like domain family A member 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1312382 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8814360 Phlda2 pleckstrin homology like domain family A member 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8814360 Phlda2 pleckstrin homology like domain family A member 2 gene DOID:3347 osteosarcoma ISO RGD:1312382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22021909 8814360 Phlda2 pleckstrin homology like domain family A member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1312382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 8814360 Phlda2 pleckstrin homology like domain family A member 2 gene DOID:630 genetic disease ISO RGD:1312382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814366 Kmt2d lysine methyltransferase 2D gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804550 8814366 Kmt2d lysine methyltransferase 2D gene DOID:0050834 CHARGE syndrome ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:29300383 8814366 Kmt2d lysine methyltransferase 2D gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:31660637|REF_RGD_ID:150521713 8814366 Kmt2d lysine methyltransferase 2D gene DOID:0050873 follicular lymphoma ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 8814366 Kmt2d lysine methyltransferase 2D gene DOID:0060041 autism spectrum disorder ISO RGD:1350607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8814366 Kmt2d lysine methyltransferase 2D gene DOID:0060058 lymphoma ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma 8814366 Kmt2d lysine methyltransferase 2D gene DOID:0060473 Kabuki syndrome ISO RGD:1350607 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Kabuki syndrome | ClinVar Annotator: match by term: Niikawa-Kuroki syndrome PMID:12482968|PMID:14608645|PMID:14699623|PMID:16199547|PMID:16603732|PMID:17576681|PMID:18414213|PMID:19625956|PMID:20711175|PMID:2071175|PMID:21280141|PMID:21607748|PMID:21658225|PMID:21671394|PMID:22126750|PMID:22304445|PMID:22740433|PMID:22786791|PMID:23320472|PMID:23757202|PMID:23913813|PMID:24033266|PMID:24311525|PMID:24633898|PMID:24728327|PMID:24739679|PMID:25142838|PMID:25281733|PMID:25741868|PMID:25755104|PMID:25896430|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26300940|PMID:26467025|PMID:26512256|PMID:26785492|PMID:26898171|PMID:26938784|PMID:27257180|PMID:27302555|PMID:27353043|PMID:27568880|PMID:27573763|PMID:27620904|PMID:27778401|PMID:27991736|PMID:28256057|PMID:28295206|PMID:28475860|PMID:28492532|PMID:28884889|PMID:28884922|PMID:28973083|PMID:29168297|PMID:29255178|PMID:29304373|PMID:29321794|PMID:29450879|PMID:29453417|PMID:29536651|PMID:29725259|PMID:29846842|PMID:29907798|PMID:30107592|PMID:30143558|PMID:30266093|PMID:30459467|PMID:30578106|PMID:3067577|PMID:30950893|PMID:31235699|PMID:31363182|PMID:31624253|PMID:31654559|PMID:31727177|PMID:31883305|PMID:31935506|PMID:31949313|PMID:31981491|PMID:32037394|PMID:32124548|PMID:32135276|PMID:32170002|PMID:32371413|PMID:32441320|PMID:32803813|PMID:33084842|PMID:33794347|PMID:34232366|PMID:35050747|PMID:35904121|PMID:36672956|PMID:3913813|PMID:9285441|PMID:9536098 8814366 Kmt2d lysine methyltransferase 2D gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 8814366 Kmt2d lysine methyltransferase 2D gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1350607 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency PMID:25741868 8814366 Kmt2d lysine methyltransferase 2D gene DOID:0080205 CAKUT ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 8814366 Kmt2d lysine methyltransferase 2D gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 8814366 Kmt2d lysine methyltransferase 2D gene DOID:10283 prostate cancer ISO RGD:1350607 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 8814366 Kmt2d lysine methyltransferase 2D gene DOID:10534 stomach cancer disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD protein:increased expression:stomach PMID:30177394|REF_RGD_ID:150521710 8814366 Kmt2d lysine methyltransferase 2D gene DOID:1059 intellectual disability ISO RGD:1350607 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:31846209 8814366 Kmt2d lysine methyltransferase 2D gene DOID:10907 microcephaly ISO RGD:1350607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:21671394|PMID:22126750|PMID:25741868|PMID:28492532|PMID:30107592 8814366 Kmt2d lysine methyltransferase 2D gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1350607 D RGD:9068941 20221013 RGD DNA:SNP: :rs3782356(human) PMID:30121816|REF_RGD_ID:155582216 8814366 Kmt2d lysine methyltransferase 2D gene DOID:11054 urinary bladder cancer ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 8814366 Kmt2d lysine methyltransferase 2D gene DOID:11832 visual epilepsy ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868 8814366 Kmt2d lysine methyltransferase 2D gene DOID:12336 male infertility ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19348672 8814366 Kmt2d lysine methyltransferase 2D gene DOID:1324 lung cancer ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25741868 8814366 Kmt2d lysine methyltransferase 2D gene DOID:1520 colon carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD protein:increased expression:colon PMID:20433758|REF_RGD_ID:150523761 8814366 Kmt2d lysine methyltransferase 2D gene DOID:1612 breast cancer ISO RGD:1350607 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:23754336|REF_RGD_ID:9588236 8814366 Kmt2d lysine methyltransferase 2D gene DOID:1826 epilepsy ISO RGD:1350607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8814366 Kmt2d lysine methyltransferase 2D gene DOID:2785 Dandy-Walker syndrome ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868 8814366 Kmt2d lysine methyltransferase 2D gene DOID:3070 high grade glioma ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 8814366 Kmt2d lysine methyltransferase 2D gene DOID:3459 breast carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD protein:increased expression:cytoplasm, breast PMID:20433758|REF_RGD_ID:150523761 8814366 Kmt2d lysine methyltransferase 2D gene DOID:3565 meningioma disease_progression ISO RGD:1350607 D RGD:9068941 20221013 RGD PMID:26240495|REF_RGD_ID:155582218 8814366 Kmt2d lysine methyltransferase 2D gene DOID:3717 gastric adenocarcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:30177394|REF_RGD_ID:150521710 8814366 Kmt2d lysine methyltransferase 2D gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8814366 Kmt2d lysine methyltransferase 2D gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350607 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25151357|REF_RGD_ID:9588233 8814366 Kmt2d lysine methyltransferase 2D gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD mRNA:increased expression:esophagus PMID:29532228|REF_RGD_ID:150521712 8814366 Kmt2d lysine methyltransferase 2D gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:24323028|REF_RGD_ID:150523770 8814366 Kmt2d lysine methyltransferase 2D gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:28177435|PMID:30885352|REF_RGD_ID:150523776|REF_RGD_ID:150523777 8814366 Kmt2d lysine methyltransferase 2D gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD DNA, protein:missense mutations, nonsense mutations, frameshift mutation, increased expression:lung PMID:25112956|REF_RGD_ID:150523769 8814366 Kmt2d lysine methyltransferase 2D gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:29627316|PMID:33665490|REF_RGD_ID:150523767|REF_RGD_ID:150523771 8814366 Kmt2d lysine methyltransferase 2D gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD associated with familial adenomatous polyposis;DNA:missense mutations, nonsense mutation PMID:32024448|REF_RGD_ID:150523759 8814366 Kmt2d lysine methyltransferase 2D gene DOID:4435 cavernous sinus meningioma ISO RGD:1350607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cavernous sinus meningioma PMID:21671394|PMID:22126750|PMID:28492532 8814366 Kmt2d lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:28007623|PMID:29627316|REF_RGD_ID:150523766|REF_RGD_ID:150523767 8814366 Kmt2d lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma ISO RGD:1350607 D RGD:9068941 20211119 RGD DNA:missense mutations, insertion/deletion:plasma PMID:29748005|REF_RGD_ID:127285383 8814366 Kmt2d lysine methyltransferase 2D gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:27873319|REF_RGD_ID:150523768 8814366 Kmt2d lysine methyltransferase 2D gene DOID:630 genetic disease ISO RGD:1350607 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11526114|PMID:11573085|PMID:12482968|PMID:14608645|PMID:14699623|PMID:15161914|PMID:16199547|PMID:16603732|PMID:18414213|PMID:19625956|PMID:20711175|PMID:21280141|PMID:21658225|PMID:21671394|PMID:22048023|PMID:22126750|PMID:22304445|PMID:22434255|PMID:23045699|PMID:23320472|PMID:23913813|PMID:24550110|PMID:24633898|PMID:24728327|PMID:24739679|PMID:25142838|PMID:25281733|PMID:25741868|PMID:25755104|PMID:25972376|PMID:26049589|PMID:26194542|PMID:26300940|PMID:26320581|PMID:26467025|PMID:26898171|PMID:26938784|PMID:27302555|PMID:27411375|PMID:27568880|PMID:27573763|PMID:27618451|PMID:27778401|PMID:27991736|PMID:28256057|PMID:28295206|PMID:28492532|PMID:28884889|PMID:28884922|PMID:29089047|PMID:29453417|PMID:29536651|PMID:30107592|PMID:30459467|PMID:3067577|PMID:31727177|PMID:31846209|PMID:31883305|PMID:32135276|PMID:32803813|PMID:34232366|PMID:9285441 8814366 Kmt2d lysine methyltransferase 2D gene DOID:7566 eccrine porocarcinoma ISO RGD:1350607 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Eccrine porocarcinoma PMID:28492532 8814366 Kmt2d lysine methyltransferase 2D gene DOID:8541 Sezary's disease ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350607 D RGD:9068941 20211119 RGD associated with stomach cancer PMID:30177394|REF_RGD_ID:150521710 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1350607 D RGD:9068941 20221013 RGD associated with colorectal cancer;DNA:mutations:: PMID:27875625|REF_RGD_ID:155582219 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350607 D RGD:7240710 20191225 OMIM 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1350607 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: KMT2D-related condition | ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19625956|PMID:20711175|PMID:2071175|PMID:21280141|PMID:21607748|PMID:21658225|PMID:21671394|PMID:21766738|PMID:22126750|PMID:22434255|PMID:22740433|PMID:22786791|PMID:23320472|PMID:23757202|PMID:23913813|PMID:24033266|PMID:24633898|PMID:24728327|PMID:24739679|PMID:24759409|PMID:25142838|PMID:25281733|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25755104|PMID:25896430|PMID:25972376|PMID:26300940|PMID:26467025|PMID:26512256|PMID:26785492|PMID:26938784|PMID:27257180|PMID:27302555|PMID:27353043|PMID:27530205|PMID:27573763|PMID:27620904|PMID:28256057|PMID:28295206|PMID:28475860|PMID:28492532|PMID:28884922|PMID:28973083|PMID:29089047|PMID:29168297|PMID:29255178|PMID:29300383|PMID:29304373|PMID:29389947|PMID:29450879|PMID:29453417|PMID:29725259|PMID:30107592|PMID:30143558|PMID:30266093|PMID:30459467|PMID:30950893|PMID:31282990|PMID:31395954|PMID:31624253|PMID:31727177|PMID:31846209|PMID:31883305|PMID:31949313|PMID:32037394|PMID:32083401|PMID:32135276|PMID:32170002|PMID:32371413|PMID:32441320|PMID:32803813|PMID:34232366|PMID:35060672|PMID:35904121|PMID:36672956|PMID:3913813|PMID:9536098 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1350607 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:28492532|PMID:30578106 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9004240 Phyllodes Tumor ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350607 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9005985 Rubinstein Taybi like Syndrome ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rubinstein Taybi like syndrome PMID:30806792 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9006086 Intervertebral Disc Displacement severity ISO RGD:1350607 D RGD:9068941 20221020 RGD PMID:32599142|REF_RGD_ID:155598599 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9006194 Complement Component C1s Deficiency ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complement component C1s deficiency PMID:25741868 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9006534 Nervous System Malformations ISO RGD:1350607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9006778 Carotid Atherosclerosis severity ISO RGD:1350607 D RGD:9068941 20221013 RGD PMID:26764138|REF_RGD_ID:155582215 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9006871 BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME ISO RGD:1350607 D RGD:7240710 20230505 OMIM 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9006871 BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME ISO RGD:1350607 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome PMID:12002153|PMID:25590979|PMID:25741868|PMID:28492532|PMID:31949313|PMID:32083401 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9008939 Breast Neoplasms ISO RGD:1350607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 8814366 Kmt2d lysine methyltransferase 2D gene DOID:903 gastrointestinal lymphoma disease_progression ISO RGD:1350607 D RGD:9068941 20211119 RGD PMID:26722499|REF_RGD_ID:11553660 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319223 D RGD:9068941 20200609 RGD PMID:23826075|REF_RGD_ID:9588237 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9538 multiple myeloma ISO RGD:1350607 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Multiple myeloma PMID:22126750|PMID:24633898|PMID:25326635|PMID:25741868|PMID:27530205|PMID:28492532 8814366 Kmt2d lysine methyltransferase 2D gene DOID:9574 choanal atresia ISO RGD:1350607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Choanal atresia PMID:25741868|PMID:31395954 8814457 Dand5 DAN domain BMP antagonist family member 5 gene DOID:0050545 visceral heterotaxy ISO RGD:1342724 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:25741868 8814457 Dand5 DAN domain BMP antagonist family member 5 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1342724 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8814457 Dand5 DAN domain BMP antagonist family member 5 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1342724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8814457 Dand5 DAN domain BMP antagonist family member 5 gene DOID:0111254 glutaric acidemia I ISO RGD:1342724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8814457 Dand5 DAN domain BMP antagonist family member 5 gene DOID:3413 alpha-mannosidosis ISO RGD:1342724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8814457 Dand5 DAN domain BMP antagonist family member 5 gene DOID:630 genetic disease ISO RGD:1342724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814457 Dand5 DAN domain BMP antagonist family member 5 gene DOID:758 situs inversus ISO RGD:1342724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:25741868 8814462 Clrn3 clarin 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1603923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8814462 Clrn3 clarin 3 gene DOID:630 genetic disease ISO RGD:1603923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814483 LOC102017184 chromosome unknown open reading frame, human C10orf120 gene DOID:2340 craniosynostosis ISO RGD:1604915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 8814483 LOC102017184 chromosome unknown open reading frame, human C10orf120 gene DOID:630 genetic disease ISO RGD:1604915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814490 Efcab2 EF-hand calcium binding domain 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8814490 Efcab2 EF-hand calcium binding domain 2 gene DOID:0080600 COVID-19 ISO RGD:1604261 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8814490 Efcab2 EF-hand calcium binding domain 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8814490 Efcab2 EF-hand calcium binding domain 2 gene DOID:630 genetic disease ISO RGD:1604261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814490 Efcab2 EF-hand calcium binding domain 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:28492532 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F ISO RGD:732480 D RGD:7240710 20180130 OMIM 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F ISO RGD:732480 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-Related Disorder PMID:11528513|PMID:12372593|PMID:15122254|PMID:16087758|PMID:16155736|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18587268|PMID:18832141|PMID:18952241|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21611841|PMID:21785432|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22057845|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22521462|PMID:22734906|PMID:23379525|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24505562|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26046366|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26768280|PMID:26986878|PMID:26989944|PMID:27492805|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28077174|PMID:28105056|PMID:28144995|PMID:28286897|PMID:28379183|PMID:28492532|PMID:28547731|PMID:28595321|PMID:28702508|PMID:28717666|PMID:28797631|PMID:28828227|PMID:28969372|PMID:29031079|PMID:29048431|PMID:29330367|PMID:29381233|PMID:29547183|PMID:29858556|PMID:30373780|PMID:30669930|PMID:30758704|PMID:30842409|PMID:31069529|PMID:31573509|PMID:31630804|PMID:31919945|PMID:32298515|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:32397312|PMID:33509756|PMID:33943041|PMID:34354735|PMID:35328016|PMID:36291591|PMID:9536098 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:0111207 autosomal dominant distal hereditary motor neuronopathy 3 ISO RGD:732480 D RGD:7240710 20180130 OMIM 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:0111207 autosomal dominant distal hereditary motor neuronopathy 3 ISO RGD:732480 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B PMID:11528513|PMID:15122254|PMID:16087758|PMID:16155736|PMID:16215937|PMID:16368711|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18587268|PMID:18832141|PMID:20178975|PMID:20660910|PMID:21149811|PMID:21785432|PMID:21971574|PMID:22031878|PMID:22057845|PMID:22176143|PMID:22484489|PMID:22734906|PMID:23379525|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23963299|PMID:24505562|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25220807|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28105056|PMID:28144995|PMID:28286897|PMID:28492532|PMID:28547731|PMID:28595321|PMID:28702508|PMID:29031079|PMID:29048431|PMID:29330367|PMID:29381233|PMID:29547183|PMID:30669930|PMID:30758704|PMID:31069529|PMID:31573509|PMID:31630804|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:33509756|PMID:33943041|PMID:35328016|PMID:36291591|PMID:9536098 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528513|PMID:12372593|PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22521462|PMID:22734906|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28144995|PMID:28166811|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:9536098 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732480 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11528513|PMID:12372593|PMID:15122254|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22521462|PMID:22734906|PMID:23643870|PMID:23948568|PMID:23963299|PMID:24607769|PMID:25025039|PMID:25088881|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:26141737|PMID:26467025|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:32334137|PMID:32376792|PMID:32528171|PMID:9536098 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732480 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528513|PMID:12372593|PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18587268|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21785432|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22521462|PMID:22734906|PMID:23379525|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24505562|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25088881|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28077174|PMID:28105056|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:30373780|PMID:30758704|PMID:31069529|PMID:31573509|PMID:31630804|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:33686258|PMID:33943041|PMID:35328016|PMID:9536098 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:61306 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brainstem, astrocyte: PMID:25772164|REF_RGD_ID:10402580 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:1115 sarcoma disease_progression ISO RGD:732480 D RGD:9068941 20200609 RGD PMID:21833720|REF_RGD_ID:10402768 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732480 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, podocyte: PMID:21931298|REF_RGD_ID:10402764 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732480 D RGD:9068941 20200609 RGD PMID:21833720|REF_RGD_ID:10402768 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:1824 status epilepticus ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20971094 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:224 transient cerebral ischemia ISO RGD:61306 D RGD:9068941 20200609 RGD protein:increased expression:brain,astrocyte: PMID:10559386|REF_RGD_ID:10402577 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:2773 contact dermatitis ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:4450 renal cell carcinoma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:6000 congestive heart failure ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17481944 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:630 genetic disease ISO RGD:732480 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12372593|PMID:15122254|PMID:16087758|PMID:16215937|PMID:17576681|PMID:17623484|PMID:18344398|PMID:18832141|PMID:20178975|PMID:20660910|PMID:21611841|PMID:21892769|PMID:22031878|PMID:22176143|PMID:22521462|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:24607769|PMID:25025039|PMID:25429913|PMID:25547330|PMID:25741868|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28144995|PMID:28286897|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29048431|PMID:29330367|PMID:29381233|PMID:29547183|PMID:30669930|PMID:31069529|PMID:32334137|PMID:32376792|PMID:33509756|PMID:36291591|PMID:9536098 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:732480 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21417552|REF_RGD_ID:10402843 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61306 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:12098653|REF_RGD_ID:10402749 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:61306 D RGD:9068941 20200903 RGD PMID:30287503|REF_RGD_ID:38549580 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9000307 Presbycusis ISO RGD:732481 D RGD:9068941 20200609 RGD PMID:24587312|REF_RGD_ID:10402574 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9000972 Fever ISO RGD:61306 D RGD:9068941 20200609 RGD protein:increased expression:glial cell PMID:12834255|REF_RGD_ID:1304397 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9000998 Brain Injuries ISO RGD:61306 D RGD:9068941 20200609 RGD PMID:11746764|REF_RGD_ID:6480530 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:61306 D RGD:9068941 20200609 RGD PMID:21310899|REF_RGD_ID:10402767 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:61306 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:glomerulus: PMID:21931298|REF_RGD_ID:10402764 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732480 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, podocyte: PMID:21931298|REF_RGD_ID:10402764 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9002221 Hyperplasia ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864298 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:61306 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15472083|REF_RGD_ID:10402769 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19193722 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9005873 Tongue Neoplasms ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19840781 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:732480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9008691 Liver Injury ISO RGD:61306 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,hepatocyte,macrophage: PMID:22417648|REF_RGD_ID:10402770 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9119 acute myeloid leukemia ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8814501 Hspb1 heat shock protein family B (small) member 1 gene DOID:9538 multiple myeloma ISO RGD:732480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12855565 8814507 Cog5 component of oligomeric golgi complex 5 gene DOID:0060224 atrial fibrillation ISO RGD:1319696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8814507 Cog5 component of oligomeric golgi complex 5 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1319696 D RGD:7240710 20180130 OMIM 8814507 Cog5 component of oligomeric golgi complex 5 gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1319696 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CDG IIi | ClinVar Annotator: match by term: COG5-CDG PMID:16199547|PMID:17576681|PMID:19690088|PMID:23228021|PMID:23430875|PMID:24033266|PMID:25331899|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28708303|PMID:29878199|PMID:31175295|PMID:31572517|PMID:32174980|PMID:33187827|PMID:33277529|PMID:9536098 8814507 Cog5 component of oligomeric golgi complex 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8814507 Cog5 component of oligomeric golgi complex 5 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 8814507 Cog5 component of oligomeric golgi complex 5 gene DOID:630 genetic disease ISO RGD:1319696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8814507 Cog5 component of oligomeric golgi complex 5 gene DOID:9006549 Enterovirus Infections ISO RGD:1319696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 8814544 Gpr152 G protein-coupled receptor 152 gene DOID:1059 intellectual disability ISO RGD:1354216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8814544 Gpr152 G protein-coupled receptor 152 gene DOID:630 genetic disease ISO RGD:1354216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814544 Gpr152 G protein-coupled receptor 152 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1354216 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8814544 Gpr152 G protein-coupled receptor 152 gene DOID:9004066 Congenital Stationary Night Blindness 2B ISO RGD:1354216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive 8814544 Gpr152 G protein-coupled receptor 152 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1354216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8814556 Carns1 carnosine synthase 1 gene DOID:1059 intellectual disability ISO RGD:2301770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8814556 Carns1 carnosine synthase 1 gene DOID:630 genetic disease ISO RGD:2301770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814556 Carns1 carnosine synthase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:2301770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8814556 Carns1 carnosine synthase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:2301770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8814575 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0080205 CAKUT ISO RGD:1348930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:26026792|PMID:30143558 8814575 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0080206 CAKUT1 ISO RGD:1348930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to PMID:25741868|PMID:26026792|PMID:30143558 8814575 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0080600 COVID-19 ISO RGD:1348930 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8814575 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1348930 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:26026792|PMID:30143558 8814575 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:12712 nephronophthisis ISO RGD:1348930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:26026792|PMID:30143558 8814575 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1557733 D RGD:9068941 20230323 MouseDO 8814575 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1348930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814575 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:9003676 Brain Hypoxia-Ischemia exacerbates ISO RGD:1566260 D RGD:9068941 20230330 RGD PMID:31356825|REF_RGD_ID:242905191 8814575 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1348930 D RGD:7240710 20180130 OMIM 8814575 Srgap1 SLIT-ROBO Rho GTPase activating protein 1 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1348930 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:23539728|PMID:25741868|PMID:28492532 8814603 Ripk4 receptor interacting serine/threonine kinase 4 gene DOID:0060055 popliteal pterygium syndrome ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Popliteal pterygium syndrome 8814603 Ripk4 receptor interacting serine/threonine kinase 4 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1323281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8814603 Ripk4 receptor interacting serine/threonine kinase 4 gene DOID:0110266 cataract 9 multiple types ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8814603 Ripk4 receptor interacting serine/threonine kinase 4 gene DOID:630 genetic disease ISO RGD:1323281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8814603 Ripk4 receptor interacting serine/threonine kinase 4 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1323281 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8814603 Ripk4 receptor interacting serine/threonine kinase 4 gene DOID:9001939 Bartsocas-Papas Syndrome 1 ISO RGD:1323281 D RGD:7240710 20180130 OMIM 8814603 Ripk4 receptor interacting serine/threonine kinase 4 gene DOID:9001939 Bartsocas-Papas Syndrome 1 ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 PMID:10925380|PMID:15264293|PMID:22197488|PMID:22197489|PMID:23074676|PMID:23610050|PMID:25326635|PMID:25741868|PMID:26752647|PMID:28492532|PMID:28940926 8814603 Ripk4 receptor interacting serine/threonine kinase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8814603 Ripk4 receptor interacting serine/threonine kinase 4 gene DOID:9008620 Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome ISO RGD:1323281 D RGD:7240710 20221207 OMIM 8814603 Ripk4 receptor interacting serine/threonine kinase 4 gene DOID:9008620 Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome ISO RGD:1323281 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Curly hair, ankyloblepharon, nail dysplasia syndrome PMID:23610050|PMID:25326635|PMID:25741868|PMID:26129644|PMID:28492532|PMID:28940926 8814603 Ripk4 receptor interacting serine/threonine kinase 4 gene DOID:9263 homocystinuria ISO RGD:1323281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8814603 Ripk4 receptor interacting serine/threonine kinase 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323281 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8814618 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:1909 melanoma ISO RGD:68574 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8814618 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:17576681|PMID:19171772|PMID:24501278|PMID:28166811|PMID:28492532|PMID:29581270|PMID:9536098 8814618 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:17576681|PMID:19171772|PMID:24501278|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29581270|PMID:9536098 8814618 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:16199547|PMID:17576681|PMID:19171772|PMID:24501278|PMID:25214526|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29581270|PMID:30571183|PMID:9536098 8814618 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:68574 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:16199547|PMID:17576681|PMID:19171772|PMID:24501278|PMID:25214526|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29581270|PMID:30571183|PMID:34245260|PMID:35510384|PMID:35897654|PMID:9536098 8814618 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8814618 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:4947 cholangiocarcinoma ISO RGD:68574 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 8814618 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:630 genetic disease ISO RGD:68574 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19171772|PMID:24501278|PMID:28492532|PMID:29581270|PMID:34245260|PMID:35510384|PMID:35897654 8814618 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:68574 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 8814618 Kcnd2 potassium voltage-gated channel subfamily D member 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68574 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34418280 8814627 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:0080600 COVID-19 ISO RGD:1602989 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8814627 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8814627 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:1059 intellectual disability ISO RGD:1602989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8814627 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:1909 melanoma ISO RGD:1602989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8814627 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8814627 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:2746 glycogen storage disease V ISO RGD:1602989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8814627 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:3070 high grade glioma ISO RGD:1602989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8814627 Batf2 basic leucine zipper ATF-like transcription factor 2 gene DOID:630 genetic disease ISO RGD:1602989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814636 LOC102021406 histone H2A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1346656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814636 LOC102021406 histone H2A gene DOID:0050476 Barth syndrome ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814636 LOC102021406 histone H2A gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814636 LOC102021406 histone H2A gene DOID:0112003 immunodeficiency 33 ISO RGD:1346656 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8814636 LOC102021406 histone H2A gene DOID:10588 adrenoleukodystrophy ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814636 LOC102021406 histone H2A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814636 LOC102021406 histone H2A gene DOID:12134 factor VIII deficiency ISO RGD:1346656 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106|PMID:22759210 8814636 LOC102021406 histone H2A gene DOID:12849 autistic disorder ISO RGD:1346656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8814636 LOC102021406 histone H2A gene DOID:13628 favism ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8814636 LOC102021406 histone H2A gene DOID:2729 dyskeratosis congenita ISO RGD:1346656 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8814636 LOC102021406 histone H2A gene DOID:607 paraplegia ISO RGD:1346656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814636 LOC102021406 histone H2A gene DOID:630 genetic disease ISO RGD:1346656 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814636 LOC102021406 histone H2A gene DOID:9002720 Splenomegaly ISO RGD:1346656 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8814640 Kcnj16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:0050758 metabolic acidosis ISO RGD:61824 D RGD:9068941 20201211 RGD compared to SS/JrHsdMcwi PMID:30605394|REF_RGD_ID:38500203 8814640 Kcnj16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:4500 hypokalemia ISO RGD:61824 D RGD:9068941 20200813 RGD protein:decreased expression:cortical collecting duct, distal convoluted tubule (rat) PMID:28931751|REF_RGD_ID:38500204 8814640 Kcnj16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:9003275 Hypokalemic Tubulopathy and Deafness ISO RGD:1343172 D RGD:7240710 20210825 OMIM 8814640 Kcnj16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:9003275 Hypokalemic Tubulopathy and Deafness ISO RGD:1343172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness PMID:33811157 8814640 Kcnj16 potassium inwardly rectifying channel subfamily J member 16 gene DOID:9008852 Respiratory Underresponsiveness to Hypoxia and Hypercapnia ISO RGD:61824 D RGD:9068941 20201211 RGD compared to SS/JrHsdMcwi PMID:30605394|REF_RGD_ID:38500203 8814655 Tmem182 transmembrane protein 182 gene DOID:0080600 COVID-19 ISO RGD:1604752 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8814655 Tmem182 transmembrane protein 182 gene DOID:630 genetic disease ISO RGD:1604752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814675 Scamp1 secretory carrier membrane protein 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:731550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 8814675 Scamp1 secretory carrier membrane protein 1 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:731550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 8814675 Scamp1 secretory carrier membrane protein 1 gene DOID:630 genetic disease ISO RGD:731550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814675 Scamp1 secretory carrier membrane protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8814689 Fam174a family with sequence similarity 174 member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8814689 Fam174a family with sequence similarity 174 member A gene DOID:630 genetic disease ISO RGD:1601696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814689 Fam174a family with sequence similarity 174 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8814689 Fam174a family with sequence similarity 174 member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8814689 Fam174a family with sequence similarity 174 member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8814696 Tal2 TAL bHLH transcription factor 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351744 D RGD:9068941 20200609 RGD PMID:1763056|REF_RGD_ID:1599285 8814696 Tal2 TAL bHLH transcription factor 2 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1351744 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:27065010|PMID:28492532 8814696 Tal2 TAL bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:1351744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814696 Tal2 TAL bHLH transcription factor 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1351744 D RGD:7240710 20230505 OMIM 8814717 Tmem62 transmembrane protein 62 gene DOID:2717 Bloom syndrome ISO RGD:1605041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8814717 Tmem62 transmembrane protein 62 gene DOID:630 genetic disease ISO RGD:1605041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814717 Tmem62 transmembrane protein 62 gene DOID:9256 colorectal cancer ISO RGD:1605041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8814745 Rrh retinal pigment epithelium-derived rhodopsin homolog gene DOID:630 genetic disease ISO RGD:1319017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814755 Orc2 origin recognition complex subunit 2 gene DOID:630 genetic disease ISO RGD:1323514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814755 Orc2 origin recognition complex subunit 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1323514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8814755 Orc2 origin recognition complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8814755 Orc2 origin recognition complex subunit 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1323514 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8814779 Rfk riboflavin kinase gene DOID:630 genetic disease ISO RGD:1313443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814779 Rfk riboflavin kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21308351 8814790 Mettl17 methyltransferase like 17 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1601980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8814790 Mettl17 methyltransferase like 17 gene DOID:630 genetic disease ISO RGD:1601980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814790 Mettl17 methyltransferase like 17 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1601980 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8814808 Smim9 small integral membrane protein 9 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:5481439 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814808 Smim9 small integral membrane protein 9 gene DOID:0050476 Barth syndrome ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814808 Smim9 small integral membrane protein 9 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814808 Smim9 small integral membrane protein 9 gene DOID:0112003 immunodeficiency 33 ISO RGD:5481439 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8814808 Smim9 small integral membrane protein 9 gene DOID:10588 adrenoleukodystrophy ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814808 Smim9 small integral membrane protein 9 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814808 Smim9 small integral membrane protein 9 gene DOID:12134 factor VIII deficiency ISO RGD:5481439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:2105106 8814808 Smim9 small integral membrane protein 9 gene DOID:12849 autistic disorder ISO RGD:5481439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8814808 Smim9 small integral membrane protein 9 gene DOID:13628 favism ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8814808 Smim9 small integral membrane protein 9 gene DOID:2729 dyskeratosis congenita ISO RGD:5481439 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8814808 Smim9 small integral membrane protein 9 gene DOID:607 paraplegia ISO RGD:5481439 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8814808 Smim9 small integral membrane protein 9 gene DOID:630 genetic disease ISO RGD:5481439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814808 Smim9 small integral membrane protein 9 gene DOID:9002720 Splenomegaly ISO RGD:5481439 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8814832 Nploc4 NPL4 homolog, ubiquitin recognition factor gene DOID:630 genetic disease ISO RGD:735438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0111040 glycogen storage disease IXD ISO RGD:1344785 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXd PMID:10330341|PMID:12862311|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28492532|PMID:28627441|PMID:31508908 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1344785 D RGD:7240710 20180130 OMIM 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1344785 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I PMID:10330341|PMID:11286390|PMID:12862311|PMID:16199547|PMID:17304053|PMID:17576681|PMID:17689125|PMID:18076117|PMID:19763152|PMID:20307669|PMID:21634085|PMID:21646031|PMID:21857251|PMID:21911307|PMID:22406018|PMID:22899091|PMID:2303074|PMID:23578772|PMID:24055370|PMID:25070466|PMID:25266922|PMID:25315662|PMID:25741868|PMID:25741869|PMID:26157701|PMID:26944031|PMID:27103379|PMID:28085675|PMID:28283841|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28627441|PMID:30659246|PMID:30945684|PMID:31248825|PMID:31508908|PMID:31987065|PMID:32244026|PMID:32387637|PMID:34093448|PMID:34117828|PMID:34277355|PMID:5306139|PMID:7711737|PMID:7847371|PMID:7959740|PMID:8733133|PMID:8733134|PMID:9536098|PMID:9600238|PMID:9835437|PMID:9870210 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:1344785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:2747 glycogen storage disease ISO RGD:1344785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7711737 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:2747 glycogen storage disease ISO RGD:1344785 D RGD:9068941 20200609 RGD glycogen storage disease IXa,OMIM:306000;DNA:point mutations,deletion,insertion PMID:7711737|REF_RGD_ID:1601388 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:2751 glycogen storage disease VIII ISO RGD:1344785 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver PMID:10330341|PMID:16199547|PMID:25741868|PMID:28492532|PMID:32244026|PMID:34117828|PMID:7711737 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1344785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1344785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330341|PMID:12862311|PMID:17576681|PMID:17689125|PMID:23578772|PMID:25741868|PMID:27103379|PMID:28283841|PMID:28492532|PMID:28627441|PMID:31508908|PMID:34117828|PMID:9536098 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1344785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 8814875 Phka2 phosphorylase kinase regulatory subunit alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8814918 Osgepl1 O-sialoglycoprotein endopeptidase like 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:1313685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 8814918 Osgepl1 O-sialoglycoprotein endopeptidase like 1 gene DOID:630 genetic disease ISO RGD:1313685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814918 Osgepl1 O-sialoglycoprotein endopeptidase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8814934 Trim62 tripartite motif containing 62 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8814934 Trim62 tripartite motif containing 62 gene DOID:630 genetic disease ISO RGD:1346151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814943 Zbtb48 zinc finger and BTB domain containing 48 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346774 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8814943 Zbtb48 zinc finger and BTB domain containing 48 gene DOID:630 genetic disease ISO RGD:1346774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814943 Zbtb48 zinc finger and BTB domain containing 48 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8814966 Rhce Rh blood group CcEe antigens gene DOID:11372 megacolon ISO RGD:1604848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8814966 Rhce Rh blood group CcEe antigens gene DOID:589 congenital hemolytic anemia ISO RGD:1604848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9657769 8814966 Rhce Rh blood group CcEe antigens gene DOID:630 genetic disease ISO RGD:1604848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814966 Rhce Rh blood group CcEe antigens gene DOID:9003229 Rh-Null Disease, Amorph Type ISO RGD:1604848 D RGD:7240710 20180905 OMIM 8814966 Rhce Rh blood group CcEe antigens gene DOID:9003229 Rh-Null Disease, Amorph Type ISO RGD:1604848 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RH-NULL, AMORPH TYPE PMID:1503086|PMID:16271106|PMID:25413218|PMID:9657766 8814984 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8814984 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8814984 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8814984 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8814984 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:12849 autistic disorder ISO RGD:1606579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8814984 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1606579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8814984 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:630 genetic disease ISO RGD:1606579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8814984 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1606579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 8814984 Ppef1 protein phosphatase with EF-hand domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8815012 Tmem175 transmembrane protein 175 gene DOID:1856 cherubism ISO RGD:1604263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8815012 Tmem175 transmembrane protein 175 gene DOID:630 genetic disease ISO RGD:1604263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815012 Tmem175 transmembrane protein 175 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1604263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 8815043 Fam43b family with sequence similarity 43 member B gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8815043 Fam43b family with sequence similarity 43 member B gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346194 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8815043 Fam43b family with sequence similarity 43 member B gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8815043 Fam43b family with sequence similarity 43 member B gene DOID:630 genetic disease ISO RGD:1346194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815043 Fam43b family with sequence similarity 43 member B gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0050700 cardiomyopathy ISO RGD:732177 D RGD:9068941 20220825 MouseDO 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression: mucosa-associated lymphoid tissue (human) PMID:27544389|REF_RGD_ID:152023632 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0060284 paroxysmal nocturnal hemoglobinuria treatment ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:22206707|REF_RGD_ID:11352266 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732176 D RGD:7240710 20180130 OMIM 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732176 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:12692554|PMID:15026312|PMID:15536153|PMID:16275383|PMID:16899028|PMID:17803866|PMID:18436740|PMID:19043667|PMID:19476565|PMID:19956569|PMID:20472031|PMID:20736454|PMID:21070597|PMID:22748845|PMID:23009155|PMID:23794067|PMID:25571909|PMID:25662009|PMID:25741868|PMID:28353164|PMID:28492532|PMID:29659363|PMID:30819232|PMID:31313072|PMID:31493092|PMID:32784523|PMID:34573280|PMID:35947323|PMID:36089616 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0060901 lymphoplasmacytic lymphoma disease_progression ISO RGD:732176 D RGD:9068941 20200609 RGD DNA:mutation:cds:1013C>G(p.S338X)(human) PMID:24711662|REF_RGD_ID:11352304 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220422 RGD mRNA,protein:increased expression:colorectum (human) PMID:18803056|REF_RGD_ID:151893518 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:0080600 COVID-19 ISO RGD:732176 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:10283 prostate cancer ameliorates ISO RGD:732176 D RGD:9068941 20220429 RGD human cells in mouse model PMID:30537000|REF_RGD_ID:152025215 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD human cells in mouse model PMID:27007162|REF_RGD_ID:152023648 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer disease_progression ISO RGD:732176 D RGD:9068941 20220318 RGD human cells in mouse model PMID:28544312|REF_RGD_ID:151665321 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer disease_progression ISO RGD:732176 D RGD:9068941 20220422 RGD mRNA:increased expression:stomach (human) PMID:21633638|REF_RGD_ID:152023624 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:10534 stomach cancer exacerbates ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression:stomach (human) PMID:19148483|PMID:25368239|REF_RGD_ID:152023608|REF_RGD_ID:152023660 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:11476 osteoporosis ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:29882473|REF_RGD_ID:14700776 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:11664 nephrosclerosis ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:1993 rectum cancer exacerbates ISO RGD:732176 D RGD:9068941 20220422 RGD protein:increased expression:rectum (human) PMID:24375277|REF_RGD_ID:152023614 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:2596 larynx cancer exacerbates ISO RGD:732176 D RGD:9068941 20220512 RGD protein:increased expression: mucosa of larynx (human) PMID:23259294|REF_RGD_ID:152177474 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:2600 laryngeal carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220506 RGD protein:increased expression:larynx (human) PMID:16494043|REF_RGD_ID:152025548 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:28104461|REF_RGD_ID:13463105 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3347 osteosarcoma ameliorates ISO RGD:732176 D RGD:9068941 20220506 RGD human cells in mouse model PMID:31571016|REF_RGD_ID:152025557 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression:esophagus squamous epithelium (human) PMID:17171785|REF_RGD_ID:152023646 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3753 Hermansky-Pudlak syndrome disease_progression ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:25347450|REF_RGD_ID:11352293 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression:lung (human) PMID:22977534|REF_RGD_ID:152023747 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:732176 D RGD:9068941 20220428 RGD protein:increased expression:lung (human) PMID:30103827|REF_RGD_ID:152023735 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:732176 D RGD:9068941 20220512 RGD mRNA:increased expression:lung (human) PMID:19716197|REF_RGD_ID:152177480 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:21448932|REF_RGD_ID:11352272 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:732176 D RGD:9068941 20230128 RGD mRNA:increased expression:kidney: PMID:29218250|REF_RGD_ID:155804290 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:4531 mucoepidermoid carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220422 RGD protein:increased expression:saliva-secreting gland (human) PMID:28772134|REF_RGD_ID:152023620 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:5241 hemangioblastoma ISO RGD:732176 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:temporal lobe : PMID:27388534|REF_RGD_ID:155641257 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:5603 T-cell acute lymphoblastic leukemia treatment ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:26931577|REF_RGD_ID:11352292 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:6000 congestive heart failure ISO RGD:732177 D RGD:9068941 20220825 MouseDO 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:612 primary immunodeficiency disease ISO RGD:732176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:615 leukopenia treatment ISO RGD:732176 D RGD:9068941 20200609 RGD associated with WHIM Syndrome; DNA:nonsense mutation: cds:p.R334X(human) PMID:21890643|REF_RGD_ID:6480654 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:630 genetic disease ISO RGD:732176 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:6432 pulmonary hypertension treatment ISO RGD:620465 D RGD:9068941 20200723 RGD PMID:21294880|REF_RGD_ID:6480473 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504|PMID:26387944 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732176 D RGD:9068941 20220318 RGD protein:increased expression:liver (human) PMID:30034941|REF_RGD_ID:151665331 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732176 D RGD:9068941 20220318 RGD human cells in mouse model PMID:33574707|REF_RGD_ID:151665327 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:8577 ulcerative colitis ISO RGD:732176 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood immature plasma cells PMID:21087446|REF_RGD_ID:6480657 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732176 D RGD:9068941 20220422 RGD associated with nasopharynx carcinoma; protein:increased expression:lymph node (human) PMID:16000558|REF_RGD_ID:151893515 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21312072|PMID:23743303 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:9068941 20220512 RGD associated with Otorhinolaryngologic Neoplasms;mRNA,protein:increased expression:Laryngeal and hypopharyngeal tissue (human) PMID:18487224|REF_RGD_ID:152177478 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:9068941 20220512 RGD associated with lung non-small cell carcinoma; protein:increased expression:lung (human) PMID:28000861|REF_RGD_ID:152177476 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732176 D RGD:9068941 20220512 RGD associated with lung non-small cell carcinoma;mRNA,protein:increased expression:lung (human) PMID:16322285|REF_RGD_ID:152177479 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD associated with lung cancer; human cells in mouse model PMID:32037613|REF_RGD_ID:151708730 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD human cells in mouse model;associated with lung cancer PMID:25504108|REF_RGD_ID:152023741 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220512 RGD associated with oral squamous cell carcinoma PMID:17634424|REF_RGD_ID:152177475 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:732177 D RGD:9068941 20220506 RGD associated with pancreatic cancer PMID:16230077|REF_RGD_ID:152025556 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD associated with lung non-small cell carcinoma; protein:increased expression:lung (human) PMID:24932250|REF_RGD_ID:152023745 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:732176 D RGD:9068941 20220428 RGD associated with osteosarcoma;protein:increased expression:bone (human) PMID:26546437|REF_RGD_ID:152023746 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9001004 Chronic Periodontitis ISO RGD:732176 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9002138 Spinal Cord Reperfusion Injury ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:27760212|REF_RGD_ID:12910551 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:28638088|REF_RGD_ID:13838657 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:30142543|REF_RGD_ID:13838658 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:24955809|REF_RGD_ID:11352686 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25753200 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9004771 Vascular Remodeling treatment ISO RGD:620465 D RGD:9068941 20210820 RGD PMID:21294880|REF_RGD_ID:6480473 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor severity ISO RGD:732176 D RGD:9068941 20220422 RGD protein:increased expression:colon (human) PMID:26259237|REF_RGD_ID:11530617 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9005968 Neuralgia ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17292584 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:620465 D RGD:9068941 20210820 RGD PMID:21294880|REF_RGD_ID:6480473 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620465 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:29073721|REF_RGD_ID:13825150 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220421 RGD associated with colorectal cancer; human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD human cells in mouse model; associated with colorectal cancer PMID:29436696|REF_RGD_ID:152023643 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9006796 Gastrointestinal Neoplasms ameliorates ISO RGD:732176 D RGD:9068941 20220428 RGD PMID:15994964|REF_RGD_ID:152023654 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9007482 Bone Metastasis disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD associated with hepatocellular carcinoma;protein:increased expression:liver (human) PMID:19508713|REF_RGD_ID:152023653 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23743303 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9008104 Cancer Pain ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:28638088|REF_RGD_ID:13838657 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9008104 Cancer Pain ISO RGD:620465 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:28108674|REF_RGD_ID:13463594 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9008763 Femoral Fractures ISO RGD:620465 D RGD:9068941 20200609 RGD PMID:25181476|REF_RGD_ID:11352664 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:732176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25753200 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220421 RGD associated with colorectal cancer; human cells in mouse model PMID:31938138|REF_RGD_ID:151665329 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732176 D RGD:9068941 20220422 RGD associated with nasopharynx carcinoma; human cells in mouse model PMID:16000558|REF_RGD_ID:151893515 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732177 D RGD:9068941 20220428 RGD PMID:26498029|REF_RGD_ID:152023752 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9009121 lung metastasis ameliorates ISO RGD:732177 D RGD:9068941 20220512 RGD associated with osteosarcoma and melanoma PMID:18071913|REF_RGD_ID:152177473 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:24035716|REF_RGD_ID:11352273 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:732176 D RGD:9068941 20200609 RGD PMID:26031918|REF_RGD_ID:11352265 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer ISO RGD:732176 D RGD:9068941 20220318 RGD mRNA:increased expression:colonic epithelium (human) PMID:32110952|REF_RGD_ID:151665323 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer ISO RGD:732176 D RGD:9068941 20220415 RGD human cells in mouse model; protein:increased expression:colorectum (human) PMID:29481800|REF_RGD_ID:151708721 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer ameliorates ISO RGD:732176 D RGD:9068941 20220422 RGD human cells in mouse model PMID:33617803|REF_RGD_ID:151893498 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732176 D RGD:9068941 20220421 RGD mRNA:increased expression:colorectum (human) PMID:28739729|PMID:33429333|REF_RGD_ID:151665332|REF_RGD_ID:151709000 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732176 D RGD:9068941 20220421 RGD protein:increased expression:blood serum (human) PMID:27330310|REF_RGD_ID:151708720 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732176 D RGD:9068941 20220421 RGD mRNA,protein:increased expression:colon (human) PMID:29719205|REF_RGD_ID:151893497 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer severity ISO RGD:732176 D RGD:9068941 20220415 RGD protein:increased expression:colorectum (human) PMID:28515923|REF_RGD_ID:151708726 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9256 colorectal cancer severity ISO RGD:732176 D RGD:9068941 20220428 RGD mRNA:increased expression:colon (human) PMID:15837989|REF_RGD_ID:152023657 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:732176 D RGD:9068941 20220428 RGD mRNA:increased expression:nasopharynx (human) PMID:26611644|REF_RGD_ID:152023644 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:732176 D RGD:9068941 20220512 RGD protein:increased expression:nasopharynx (human) PMID:15978137|REF_RGD_ID:152177484 8815049 Cxcr4 C-X-C motif chemokine receptor 4 gene DOID:9970 obesity ISO RGD:732177 D RGD:9068941 20200609 RGD PMID:25016030|REF_RGD_ID:13673852 8815055 Lmod3 leiomodin 3 gene DOID:0110931 nemaline myopathy 10 ISO RGD:1603025 D RGD:7240710 20180130 OMIM 8815055 Lmod3 leiomodin 3 gene DOID:0110931 nemaline myopathy 10 ISO RGD:1603025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 10 PMID:17576681|PMID:25250574|PMID:25741868|PMID:28492532|PMID:28815944|PMID:30291184|PMID:30642739|PMID:31428121|PMID:9536098 8815055 Lmod3 leiomodin 3 gene DOID:630 genetic disease ISO RGD:1603025 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8815066 Prx periaxin gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:25614874|PMID:26059842|PMID:28492532 8815066 Prx periaxin gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1351983 D RGD:7240710 20180425 OMIM 8815066 Prx periaxin gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1351983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Dejerine-Sottas disease PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16770524|PMID:20301641|PMID:21079185|PMID:22847150|PMID:24033266|PMID:24078732|PMID:25326635|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26467025|PMID:28492532|PMID:31673878|PMID:32376792|PMID:34476298 8815066 Prx periaxin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31673878|PMID:9536098 8815066 Prx periaxin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351983 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:27854218|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29623298|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31673878|PMID:32376792|PMID:32460404|PMID:32665875|PMID:9536098 8815066 Prx periaxin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:17576681|PMID:18410371|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25628743|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:2758284|PMID:27862672|PMID:28492532|PMID:28708278|PMID:28902413|PMID:29623298|PMID:29858556|PMID:30724636|PMID:31372974|PMID:31523542|PMID:31673878|PMID:32085570|PMID:32376792|PMID:32453099|PMID:32460404|PMID:32665875|PMID:34476298|PMID:35509735|PMID:9536098 8815066 Prx periaxin gene DOID:0080288 spinocerebellar ataxia 46 ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 46 PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:32376792 8815066 Prx periaxin gene DOID:0110193 Charcot-Marie-Tooth disease type 4F ISO RGD:1351983 D RGD:7240710 20180130 OMIM 8815066 Prx periaxin gene DOID:0110193 Charcot-Marie-Tooth disease type 4F ISO RGD:1351983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 4F | ClinVar Annotator: match by term: PRX-related condition PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24033266|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:2758284|PMID:28492532|PMID:29623298|PMID:31372974|PMID:31523542|PMID:31673878|PMID:32085570|PMID:32214227|PMID:32376792|PMID:32453099|PMID:34476298|PMID:35509735 8815066 Prx periaxin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8815066 Prx periaxin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351983 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18410371|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21326314|PMID:21741241|PMID:21840889|PMID:22847150|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25044680|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532|PMID:30724636|PMID:31523542|PMID:32376792 8815066 Prx periaxin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10848494|PMID:11133365|PMID:11157804|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16534116|PMID:16770524|PMID:18410371|PMID:18504680|PMID:19837996|PMID:20301641|PMID:21079185|PMID:21326314|PMID:21741241|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24011642|PMID:24078732|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25044680|PMID:25164601|PMID:25188385|PMID:25326635|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:2758284|PMID:28492532|PMID:29623298|PMID:30724636|PMID:31523542|PMID:32085570|PMID:32376792|PMID:32453099|PMID:32460404|PMID:35509735 8815066 Prx periaxin gene DOID:12377 spinal muscular atrophy ISO RGD:1351983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 8815066 Prx periaxin gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8815066 Prx periaxin gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8815066 Prx periaxin gene DOID:2340 craniosynostosis ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8815066 Prx periaxin gene DOID:2477 motor peripheral neuropathy ISO RGD:1351983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8815066 Prx periaxin gene DOID:574 peripheral nervous system disease ISO RGD:1351983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11133365|PMID:15197604|PMID:15469949|PMID:16770524|PMID:21741241|PMID:22847150|PMID:25741868|PMID:26059842|PMID:28492532|PMID:30724636|PMID:31673878|PMID:34476298 8815066 Prx periaxin gene DOID:630 genetic disease ISO RGD:1351983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11133365|PMID:12112076|PMID:15197604|PMID:15469949|PMID:16199547|PMID:16770524|PMID:19837996|PMID:20301641|PMID:21840889|PMID:22847150|PMID:23056405|PMID:24627108|PMID:24969084|PMID:25025039|PMID:25164601|PMID:25188385|PMID:25614874|PMID:25741868|PMID:26059842|PMID:26257172|PMID:26392352|PMID:26467025|PMID:27104957|PMID:2758284|PMID:28492532|PMID:29623298|PMID:31523542|PMID:31673878|PMID:32085570|PMID:32376792|PMID:32453099|PMID:32665875|PMID:34476298|PMID:35509735 8815066 Prx periaxin gene DOID:83 cataract ISO RGD:1351983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 8815066 Prx periaxin gene DOID:870 neuropathy ISO RGD:1351983 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11133365|PMID:15197604|PMID:15469949|PMID:16770524|PMID:21741241|PMID:22847150|PMID:25741868|PMID:26059842|PMID:28492532|PMID:30724636|PMID:31673878|PMID:34476298 8815066 Prx periaxin gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8815066 Prx periaxin gene DOID:9269 maple syrup urine disease ISO RGD:1351983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8815066 Prx periaxin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351983 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8815095 Prss37 serine protease 37 gene DOID:0080690 RASopathy ISO RGD:1604236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8815095 Prss37 serine protease 37 gene DOID:630 genetic disease ISO RGD:1604236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8815095 Prss37 serine protease 37 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1604236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 8815109 Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:732908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8815109 Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:12704 ataxia telangiectasia ISO RGD:732908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8815109 Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:630 genetic disease ISO RGD:732908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815109 Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8815109 Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 8815109 Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8815130 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8815130 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:33211200 8815130 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:1605833 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8815130 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:0112355 spermatogenic failure 60 ISO RGD:1605833 D RGD:7240710 20211222 OMIM 8815130 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:0112355 spermatogenic failure 60 ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 60 PMID:25741868|PMID:32741963|PMID:33211200 8815130 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:14227 azoospermia ISO RGD:1605833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8815130 Terb1 telomere repeat binding bouquet formation protein 1 gene DOID:630 genetic disease ISO RGD:1605833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815151 Trmt6 tRNA methyltransferase 6 non-catalytic subunit gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1604623 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8815151 Trmt6 tRNA methyltransferase 6 non-catalytic subunit gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1604623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8815151 Trmt6 tRNA methyltransferase 6 non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1604623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815169 Atp1b3 ATPase Na+/K+ transporting subunit beta 3 gene DOID:630 genetic disease ISO RGD:733031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815195 Gse1 Gse1 coiled-coil protein gene DOID:10534 stomach cancer ameliorates ISO RGD:1604378 D RGD:9068941 20220224 RGD PMID:29367342|REF_RGD_ID:151361142 8815195 Gse1 Gse1 coiled-coil protein gene DOID:10534 stomach cancer disease_progression ISO RGD:1604378 D RGD:9068941 20220224 RGD PMID:29367342|REF_RGD_ID:151361142 8815195 Gse1 Gse1 coiled-coil protein gene DOID:10534 stomach cancer exacerbates ISO RGD:1604378 D RGD:9068941 20220224 RGD PMID:29367342|REF_RGD_ID:151361142 8815195 Gse1 Gse1 coiled-coil protein gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1604378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8815195 Gse1 Gse1 coiled-coil protein gene DOID:5419 schizophrenia ISO RGD:1604378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8815195 Gse1 Gse1 coiled-coil protein gene DOID:630 genetic disease ISO RGD:1604378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815230 Gpr19 G protein-coupled receptor 19 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1344105 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8815230 Gpr19 G protein-coupled receptor 19 gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:1344105 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:28492532 8815230 Gpr19 G protein-coupled receptor 19 gene DOID:630 genetic disease ISO RGD:1344105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815243 Znf582 zinc finger protein 582 gene DOID:630 genetic disease ISO RGD:1353424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815259 Cdh6 cadherin 6 gene DOID:630 genetic disease ISO RGD:735712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815259 Cdh6 cadherin 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8815259 Cdh6 cadherin 6 gene DOID:9007346 Cachexia ISO RGD:735712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 8815276 Ythdf2 YTH N6-methyladenosine RNA binding protein F2 gene DOID:630 genetic disease ISO RGD:1322711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815276 Ythdf2 YTH N6-methyladenosine RNA binding protein F2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28104805 8815285 Zfp36 ZFP36 ring finger protein gene DOID:0080600 COVID-19 ISO RGD:737182 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8815285 Zfp36 ZFP36 ring finger protein gene DOID:0080600 COVID-19 ISO RGD:737182 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8815285 Zfp36 ZFP36 ring finger protein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737182 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8815285 Zfp36 ZFP36 ring finger protein gene DOID:1612 breast cancer disease_progression ISO RGD:737182 D RGD:9068941 20220818 RGD mRNA:decreased expression:breast (human) PMID:32248342|REF_RGD_ID:153344515 8815285 Zfp36 ZFP36 ring finger protein gene DOID:2723 dermatitis ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 8815285 Zfp36 ZFP36 ring finger protein gene DOID:630 genetic disease ISO RGD:737182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815285 Zfp36 ZFP36 ring finger protein gene DOID:684 hepatocellular carcinoma ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8815285 Zfp36 ZFP36 ring finger protein gene DOID:7148 rheumatoid arthritis ISO RGD:737183 D RGD:9068941 20220825 MouseDO OMIM:180300 8815285 Zfp36 ZFP36 ring finger protein gene DOID:848 arthritis ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 8815285 Zfp36 ZFP36 ring finger protein gene DOID:9002221 Hyperplasia ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 8815285 Zfp36 ZFP36 ring finger protein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25556371 8815285 Zfp36 ZFP36 ring finger protein gene DOID:9005372 Inflammation ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12756304 8815285 Zfp36 ZFP36 ring finger protein gene DOID:9006827 Lung Reperfusion Injury exacerbates ISO RGD:737183 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 8815285 Zfp36 ZFP36 ring finger protein gene DOID:9007102 Myocardial Ischemia ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8815285 Zfp36 ZFP36 ring finger protein gene DOID:9007346 Cachexia ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12756304|PMID:15944294 8815285 Zfp36 ZFP36 ring finger protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:737182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8815285 Zfp36 ZFP36 ring finger protein gene DOID:987 alopecia ISO RGD:737182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944294 8815291 Il16 interleukin 16 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1351288 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs1131445) T>C (human) PMID:27354594|REF_RGD_ID:152177496 8815291 Il16 interleukin 16 gene DOID:10283 prostate cancer ISO RGD:1351288 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs4072111 (human) PMID:18264096|REF_RGD_ID:2293182 8815291 Il16 interleukin 16 gene DOID:1205 allergic disease ISO RGD:1351288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624239 8815291 Il16 interleukin 16 gene DOID:2717 Bloom syndrome ISO RGD:1351288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8815291 Il16 interleukin 16 gene DOID:2841 asthma ISO RGD:1351288 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-295T>C (human) PMID:16387589|REF_RGD_ID:5024934 8815291 Il16 interleukin 16 gene DOID:2841 asthma ISO RGD:1351288 D RGD:9068941 20200609 RGD associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion PMID:16734115|REF_RGD_ID:5024928 8815291 Il16 interleukin 16 gene DOID:2841 asthma ISO RGD:1557964 D RGD:9068941 20200609 RGD PMID:10585533|REF_RGD_ID:5024937 8815291 Il16 interleukin 16 gene DOID:2841 asthma no_association ISO RGD:1351288 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-295T>C (human) PMID:15784111|REF_RGD_ID:5024935 8815291 Il16 interleukin 16 gene DOID:2841 asthma severity ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12872394|REF_RGD_ID:5024930 8815291 Il16 interleukin 16 gene DOID:3068 glioblastoma ISO RGD:1583872 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17221335|REF_RGD_ID:5024941 8815291 Il16 interleukin 16 gene DOID:3069 malignant astrocytoma ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17221335|REF_RGD_ID:5024941 8815291 Il16 interleukin 16 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20079227|REF_RGD_ID:5024924 8815291 Il16 interleukin 16 gene DOID:3388 periodontal disease ISO RGD:1583872 D RGD:9068941 20200609 RGD mRNA:increased expression:T cell PMID:20618701|REF_RGD_ID:5024938 8815291 Il16 interleukin 16 gene DOID:4483 rhinitis ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18254318|REF_RGD_ID:5024932 8815291 Il16 interleukin 16 gene DOID:4483 rhinitis ISO RGD:1557964 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium, serum PMID:19295235|REF_RGD_ID:5024931 8815291 Il16 interleukin 16 gene DOID:5154 borna disease ISO RGD:1583872 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:14698845|REF_RGD_ID:1354526 8815291 Il16 interleukin 16 gene DOID:630 genetic disease ISO RGD:1351288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815291 Il16 interleukin 16 gene DOID:8544 chronic fatigue syndrome ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 8815291 Il16 interleukin 16 gene DOID:9000998 Brain Injuries ISO RGD:1583872 D RGD:9068941 20200609 RGD PMID:17983426|REF_RGD_ID:5024939 8815291 Il16 interleukin 16 gene DOID:9001363 Heavy Metal Poisoning, Nervous System ISO RGD:1583872 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:14698845|REF_RGD_ID:1354526 8815291 Il16 interleukin 16 gene DOID:9001472 Nasal Polyps ISO RGD:1351288 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:17431659|REF_RGD_ID:5024933 8815291 Il16 interleukin 16 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 8815291 Il16 interleukin 16 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1583872 D RGD:9068941 20200609 RGD PMID:17641011|REF_RGD_ID:5024940 8815291 Il16 interleukin 16 gene DOID:9003281 Spontaneous Abortions ISO RGD:1351288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8815291 Il16 interleukin 16 gene DOID:9004484 Sepsis ISO RGD:1557964 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic;protein:increased expression:lung PMID:19641139|REF_RGD_ID:5024925 8815291 Il16 interleukin 16 gene DOID:9008680 Respiratory Tract Infections ISO RGD:1351288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14633438|REF_RGD_ID:4145665 8815291 Il16 interleukin 16 gene DOID:9256 colorectal cancer ISO RGD:1351288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8815333 Pax1 paired box 1 gene DOID:2907 Goldenhar syndrome ISO RGD:1350216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniofacial microsomia 8815333 Pax1 paired box 1 gene DOID:630 genetic disease ISO RGD:1350216 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8815333 Pax1 paired box 1 gene DOID:9002479 Otofaciocervical Syndrome 2 ISO RGD:1350216 D RGD:7240710 20180130 OMIM 8815333 Pax1 paired box 1 gene DOID:9002479 Otofaciocervical Syndrome 2 ISO RGD:1350216 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Otofaciocervical syndrome 2 PMID:1889089|PMID:23851939|PMID:25741868|PMID:28492532|PMID:28657137|PMID:29681087|PMID:32111619 8815333 Pax1 paired box 1 gene DOID:9002601 Otofaciocervical Syndrome 1 ISO RGD:1350216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8815342 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1344859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8815342 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:11372 megacolon ISO RGD:1344859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8815342 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1344859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 8815342 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:630 genetic disease ISO RGD:1344859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815342 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:670 amphetamine abuse ISO RGD:1344859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8815342 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743467 8815342 Cchcr1 coiled-coil alpha-helical rod protein 1 gene DOID:986 alopecia areata ISO RGD:1617323 D RGD:9068941 20220825 MouseDO OMIM:104000 | OMIM:610753 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1353888 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:0060249 scoliosis ISO RGD:1353888 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868|PMID:28492532 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:0080001 bone disease ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207788 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:0080205 CAKUT ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1353888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1353888 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia PMID:25326637|PMID:25741868|PMID:28492532 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:13375 temporal arteritis ISO RGD:1353888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear PMID:21220737|REF_RGD_ID:6482238 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26760175|PMID:28372585|PMID:28492532|PMID:30074189|PMID:9585603 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25741868|PMID:26760175|PMID:28372585|PMID:28492532|PMID:30074189|PMID:9585603 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:1682 congenital heart disease ISO RGD:1353888 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20437614|PMID:21752016|PMID:22040217|PMID:23956173|PMID:24033266|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26760175|PMID:28492532|PMID:9585603 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:2377 multiple sclerosis ISO RGD:1353888 D RGD:9068941 20200609 RGD PMID:16934875|REF_RGD_ID:6482240 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1353888 D RGD:9068941 20200609 RGD PMID:20805994|REF_RGD_ID:6482233 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:3068 glioblastoma ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735466 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:3571 liver cancer treatment ISO RGD:735466 D RGD:9068941 20200609 RGD miRNA:decreased expression:liver PMID:25311838|REF_RGD_ID:14694834 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:3627 aortic aneurysm ISO RGD:1353888 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aortic dilatation PMID:25741868|PMID:28492532 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:3770 pulmonary fibrosis ISO RGD:2937 D RGD:9068941 20221201 RGD protein:increased expression:lung PMID:27982686|REF_RGD_ID:155663660 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:630 genetic disease ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12497640|PMID:24033266|PMID:25741868|PMID:28492532 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353888 D RGD:7240710 20180130 OMIM 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11152664|PMID:11157803|PMID:12442286|PMID:12497640|PMID:12649809|PMID:16575836|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22487239|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25676721|PMID:25741868|PMID:26760175|PMID:28492532|PMID:30293987|PMID:32065591|PMID:33433009|PMID:9585603 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353888 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:30660174|REF_RGD_ID:14694832 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:8398 osteoarthritis ISO RGD:1353888 D RGD:9068941 20200609 RGD PMID:18354251|REF_RGD_ID:6482239 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:8501 fundus dystrophy ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11180599|PMID:28492532 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:8947 diabetic retinopathy ISO RGD:735466 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:retina: PMID:30787185|REF_RGD_ID:155663348 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9001487 Facies ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9207787|PMID:9207788 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9002114 Charcot-Marie-Tooth Disease Axonal Type 2HH ISO RGD:1353888 D RGD:7240710 20211110 OMIM 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9002114 Charcot-Marie-Tooth Disease Axonal Type 2HH ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11157803|PMID:12442286|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22487239|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25676721|PMID:25741868|PMID:26760175|PMID:28492532|PMID:32065591|PMID:9585603 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9002457 Experimental Arthritis ISO RGD:735466 D RGD:9068941 20200609 RGD PMID:19265135|REF_RGD_ID:6482234 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735466 D RGD:9068941 20200609 RGD PMID:17947672|REF_RGD_ID:6482235 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9003698 ALAGILLE SYNDROME 1 ISO RGD:1353888 D RGD:7240710 20240214 OMIM 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9003698 ALAGILLE SYNDROME 1 ISO RGD:1353888 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:11259677|PMID:12022040|PMID:12239725|PMID:12244555|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:16875832|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25525159|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26548814|PMID:26633542|PMID:26760175|PMID:26785492|PMID:27256232|PMID:27760138|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:29783821|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:32733715|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34150014|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2937 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:21330605|REF_RGD_ID:6482230 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1353888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:pancreas PMID:17114010|REF_RGD_ID:6482236 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9007096 Stroke ISO RGD:1353888 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9007573 Flatfoot ISO RGD:1353888 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: flatfoot PMID:25741868|PMID:28492532 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353888 D RGD:9068941 20200609 RGD PMID:18691378|REF_RGD_ID:2299152 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9007908 Aortic Coarctation ISO RGD:1353888 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:10220506|PMID:11139247|PMID:11180599|PMID:16199547|PMID:24748328|PMID:25741868|PMID:28492532|PMID:29483232|PMID:30074189|PMID:31343788|PMID:34185059 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12022040|PMID:9207787|PMID:9207788 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9008606 Corneal Opacity ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12022040 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9008681 Deafness ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12022040 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9008743 Deafness, Congenital Heart Defects, and Posterior Embryotoxon ISO RGD:1353888 D RGD:7240710 20210203 OMIM 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9008743 Deafness, Congenital Heart Defects, and Posterior Embryotoxon ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11157803|PMID:12022040|PMID:12442286|PMID:12497640|PMID:16575836|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22487239|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25676721|PMID:25741868|PMID:26760175|PMID:28492532|PMID:9585603 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12022040|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:16199547|PMID:16575836|PMID:16875832|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22487239|PMID:22488849|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25525159|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26548814|PMID:26633542|PMID:26760175|PMID:27256232|PMID:27760138|PMID:28166811|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29783821|PMID:30074189|PMID:30651579|PMID:31343788|PMID:31475041|PMID:33532864|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:33433009|PMID:33532864|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:12239725|PMID:12244555|PMID:12297837|PMID:12497640|PMID:12649809|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:20586101|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:27760138|PMID:28372585|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:11259677|PMID:12239725|PMID:12244555|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25326637|PMID:25525159|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:26785492|PMID:27256232|PMID:27760138|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:29783821|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:10213047|PMID:10220506|PMID:10533065|PMID:11058898|PMID:11139239|PMID:11139247|PMID:11152664|PMID:11157803|PMID:11180599|PMID:11259677|PMID:12239725|PMID:12244555|PMID:12442286|PMID:12497640|PMID:12649809|PMID:15358557|PMID:15712272|PMID:15772854|PMID:15990638|PMID:16199547|PMID:16575836|PMID:16875832|PMID:17241866|PMID:17576681|PMID:17720887|PMID:17949281|PMID:18660822|PMID:19058200|PMID:19780835|PMID:19948535|PMID:20301450|PMID:20437614|PMID:21752016|PMID:22040217|PMID:22382802|PMID:22405927|PMID:22487239|PMID:22488849|PMID:22759690|PMID:23891399|PMID:23956173|PMID:24033266|PMID:24748328|PMID:25260786|PMID:25525159|PMID:25606387|PMID:25676721|PMID:25741868|PMID:26076142|PMID:26633542|PMID:26760175|PMID:26785492|PMID:27256232|PMID:27760138|PMID:28492532|PMID:28695677|PMID:29187043|PMID:29483232|PMID:29555955|PMID:29707407|PMID:29783821|PMID:30074189|PMID:30293987|PMID:31343788|PMID:31475041|PMID:31595668|PMID:32065591|PMID:32733715|PMID:33433009|PMID:33532864|PMID:34071626|PMID:34150014|PMID:34185059|PMID:34746741|PMID:9207787|PMID:9207788|PMID:9536098|PMID:9585603|PMID:9700188 8815373 Jag1 jagged canonical Notch ligand 1 gene DOID:9245 Alagille syndrome ISO RGD:1353888 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Arteriohepatic dysplasia PMID:25741868|PMID:26076142|PMID:28492532 8815403 Pianp PILR alpha associated neural protein gene DOID:0060041 autism spectrum disorder ISO RGD:1312691 D RGD:9068941 20220825 MouseDO 8815403 Pianp PILR alpha associated neural protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8815403 Pianp PILR alpha associated neural protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8815403 Pianp PILR alpha associated neural protein gene DOID:0111621 Temtamy syndrome ISO RGD:1606434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8815403 Pianp PILR alpha associated neural protein gene DOID:630 genetic disease ISO RGD:1606434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815403 Pianp PILR alpha associated neural protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8815417 Med8 mediator complex subunit 8 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8815417 Med8 mediator complex subunit 8 gene DOID:630 genetic disease ISO RGD:1313646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815434 Rpl27 ribosomal protein L27 gene DOID:0111893 Diamond-Blackfan anemia 16 ISO RGD:735597 D RGD:7240710 20190315 OMIM 8815434 Rpl27 ribosomal protein L27 gene DOID:0111893 Diamond-Blackfan anemia 16 ISO RGD:735597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 PMID:25424902|PMID:25741868|PMID:28492532 8815434 Rpl27 ribosomal protein L27 gene DOID:630 genetic disease ISO RGD:735597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815446 Mrps17 mitochondrial ribosomal protein S17 gene DOID:12849 autistic disorder ISO RGD:1316964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8815446 Mrps17 mitochondrial ribosomal protein S17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8815446 Mrps17 mitochondrial ribosomal protein S17 gene DOID:630 genetic disease ISO RGD:1316964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815456 Fbxo27 F-box protein 27 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1343305 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8815456 Fbxo27 F-box protein 27 gene DOID:630 genetic disease ISO RGD:1343305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815456 Fbxo27 F-box protein 27 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8815472 Sbf1 SET binding factor 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28005197|PMID:28492532|PMID:28902413 8815472 Sbf1 SET binding factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310|PMID:30763456 8815472 Sbf1 SET binding factor 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1316075 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8815472 Sbf1 SET binding factor 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8815472 Sbf1 SET binding factor 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8815472 Sbf1 SET binding factor 1 gene DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ISO RGD:1316075 D RGD:7240710 20180130 OMIM 8815472 Sbf1 SET binding factor 1 gene DOID:0110194 Charcot-Marie-Tooth disease type 4B3 ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B3 | ClinVar Annotator: match by term: SBF1-related condition PMID:16199547|PMID:17576681|PMID:21210780|PMID:23749797|PMID:24799518|PMID:25558065|PMID:25741868|PMID:28005197|PMID:28492532|PMID:28902413|PMID:30564305|PMID:31482689|PMID:33726816|PMID:33987933|PMID:34118926|PMID:9536098 8815472 Sbf1 SET binding factor 1 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:1316075 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:25741868|PMID:28492532 8815472 Sbf1 SET binding factor 1 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1316075 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 8815472 Sbf1 SET binding factor 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1316075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8815472 Sbf1 SET binding factor 1 gene DOID:1059 intellectual disability ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8815472 Sbf1 SET binding factor 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1316075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21210780|PMID:24799518|PMID:25558065 8815472 Sbf1 SET binding factor 1 gene DOID:10907 microcephaly ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23749797|PMID:25741868|PMID:28492532 8815472 Sbf1 SET binding factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 8815472 Sbf1 SET binding factor 1 gene DOID:630 genetic disease ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23749797|PMID:25741868|PMID:28492532 8815472 Sbf1 SET binding factor 1 gene DOID:870 neuropathy ISO RGD:1316075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 8815533 Cog4 component of oligomeric golgi complex 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1321515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8815533 Cog4 component of oligomeric golgi complex 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1321515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8815533 Cog4 component of oligomeric golgi complex 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8815533 Cog4 component of oligomeric golgi complex 4 gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1321515 D RGD:7240710 20180130 OMIM 8815533 Cog4 component of oligomeric golgi complex 4 gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1321515 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COG4-CDG PMID:16199547|PMID:17576681|PMID:19494034|PMID:19651599|PMID:21185756|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30290151|PMID:31949312|PMID:32064623|PMID:32078278|PMID:34298581|PMID:8074143|PMID:9536098 8815533 Cog4 component of oligomeric golgi complex 4 gene DOID:0111673 Saul-Wilson syndrome ISO RGD:1321515 D RGD:7240710 20190315 OMIM 8815533 Cog4 component of oligomeric golgi complex 4 gene DOID:0111673 Saul-Wilson syndrome ISO RGD:1321515 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA | ClinVar Annotator: match by term: Microcephalic osteodysplastic dysplasia, Saul-Wilson type PMID:21185756|PMID:2309787|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30290151|PMID:31949312|PMID:32064623|PMID:32078278|PMID:8074143 8815533 Cog4 component of oligomeric golgi complex 4 gene DOID:630 genetic disease ISO RGD:1321515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:30290151|PMID:31949312|PMID:32078278|PMID:8074143 8815533 Cog4 component of oligomeric golgi complex 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1321515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8815560 Tasor transcription activation suppressor gene DOID:3070 high grade glioma ISO RGD:1604038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8815560 Tasor transcription activation suppressor gene DOID:630 genetic disease ISO RGD:1604038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815586 Gpr108 G protein-coupled receptor 108 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8815586 Gpr108 G protein-coupled receptor 108 gene DOID:630 genetic disease ISO RGD:1344702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815608 Ppm1l protein phosphatase, Mg2+/Mn2+ dependent 1L gene DOID:630 genetic disease ISO RGD:1313118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815608 Ppm1l protein phosphatase, Mg2+/Mn2+ dependent 1L gene DOID:9970 obesity ISO RGD:1313118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344982 8815616 Tonsl tonsoku like, DNA repair protein gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1316704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8815616 Tonsl tonsoku like, DNA repair protein gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1316704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8815616 Tonsl tonsoku like, DNA repair protein gene DOID:11612 polycystic ovary syndrome ISO RGD:1316704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8815616 Tonsl tonsoku like, DNA repair protein gene DOID:4621 holoprosencephaly ISO RGD:1316704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8815616 Tonsl tonsoku like, DNA repair protein gene DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type ISO RGD:1316704 D RGD:7240710 20190731 OMIM 8815616 Tonsl tonsoku like, DNA repair protein gene DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type ISO RGD:1316704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sponastrime dysplasia | ClinVar Annotator: match by term: TONSL-related condition PMID:10797420|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30773277|PMID:30773278|PMID:9536098 8815616 Tonsl tonsoku like, DNA repair protein gene DOID:630 genetic disease ISO RGD:1316704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8815616 Tonsl tonsoku like, DNA repair protein gene DOID:684 hepatocellular carcinoma ISO RGD:1316704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8815616 Tonsl tonsoku like, DNA repair protein gene DOID:9008086 Developmental Disabilities ISO RGD:1316704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8815651 Gtsf1 gametocyte specific factor 1 gene DOID:630 genetic disease ISO RGD:1605883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815670 Lca5 lebercilin LCA5 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1318396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17576681|PMID:18334959|PMID:25741868|PMID:28492532|PMID:32865313|PMID:9536098 8815670 Lca5 lebercilin LCA5 gene DOID:0110215 Leber congenital amaurosis 5 ISO RGD:1318396 D RGD:7240710 20180130 OMIM 8815670 Lca5 lebercilin LCA5 gene DOID:0110215 Leber congenital amaurosis 5 ISO RGD:1318396 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 5 PMID:10631161|PMID:12642313|PMID:16123401|PMID:16199547|PMID:17546029|PMID:17576681|PMID:18000884|PMID:18334959|PMID:19503738|PMID:20301475|PMID:21602930|PMID:21606596|PMID:23661368|PMID:23946133|PMID:24144451|PMID:24265693|PMID:24474277|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26352687|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:30029497|PMID:31456290|PMID:32214227|PMID:32531858|PMID:32865313|PMID:33090715|PMID:33776059|PMID:33957996|PMID:34906470|PMID:36909829|PMID:8571951|PMID:9536098 8815670 Lca5 lebercilin LCA5 gene DOID:10584 retinitis pigmentosa ISO RGD:1318396 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17546029|PMID:23946133|PMID:24265693|PMID:25741868|PMID:28492532|PMID:32531858|PMID:33776059|PMID:34906470 8815670 Lca5 lebercilin LCA5 gene DOID:1432 blindness ISO RGD:1318396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17546029 8815670 Lca5 lebercilin LCA5 gene DOID:14791 Leber congenital amaurosis ISO RGD:1318396 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:12642313|PMID:17546029|PMID:17576681|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26352687|PMID:27624628|PMID:28041643|PMID:28418496|PMID:28492532|PMID:31456290|PMID:32531858|PMID:36909829|PMID:8571951|PMID:9536098 8815670 Lca5 lebercilin LCA5 gene DOID:630 genetic disease ISO RGD:1318396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17546029|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:28041643|PMID:28492532|PMID:8571951 8815670 Lca5 lebercilin LCA5 gene DOID:8501 fundus dystrophy ISO RGD:1318396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17546029|PMID:19503738|PMID:20301475|PMID:21606596|PMID:23946133|PMID:25356970|PMID:25412400|PMID:25741868|PMID:27624628|PMID:28041643|PMID:28492532|PMID:8571951 8815670 Lca5 lebercilin LCA5 gene DOID:9269 maple syrup urine disease ISO RGD:1318396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 8815684 Tmem144 transmembrane protein 144 gene DOID:630 genetic disease ISO RGD:1605072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815710 Rnf170 ring finger protein 170 gene DOID:0050951 hereditary ataxia ISO RGD:1615793 D RGD:9068941 20220825 MouseDO 8815710 Rnf170 ring finger protein 170 gene DOID:0090039 torsion dystonia 6 ISO RGD:1352237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 8815710 Rnf170 ring finger protein 170 gene DOID:0111170 autosomal dominant sensory ataxia 1 ISO RGD:1352237 D RGD:7240710 20180418 OMIM 8815710 Rnf170 ring finger protein 170 gene DOID:0111170 autosomal dominant sensory ataxia 1 ISO RGD:1352237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant sensory ataxia 1 PMID:17190954|PMID:18414213|PMID:21115467|PMID:25741868|PMID:25882839|PMID:28492532|PMID:31589614|PMID:31636353|PMID:32943585|PMID:34420199 8815710 Rnf170 ring finger protein 170 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 8815710 Rnf170 ring finger protein 170 gene DOID:0111959 immunodeficiency 15B ISO RGD:1352237 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8815710 Rnf170 ring finger protein 170 gene DOID:0112345 hereditary spastic paraplegia 85 ISO RGD:1352237 D RGD:7240710 20220112 OMIM 8815710 Rnf170 ring finger protein 170 gene DOID:0112345 hereditary spastic paraplegia 85 ISO RGD:1352237 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 85, autosomal recessive PMID:17190954|PMID:21115467|PMID:25741868|PMID:25882839|PMID:31636353|PMID:32943585|PMID:35041108 8815710 Rnf170 ring finger protein 170 gene DOID:607 paraplegia ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:31636353 8815710 Rnf170 ring finger protein 170 gene DOID:630 genetic disease ISO RGD:1352237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815710 Rnf170 ring finger protein 170 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8815710 Rnf170 ring finger protein 170 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 8815710 Rnf170 ring finger protein 170 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1352237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8815727 Txndc9 thioredoxin domain containing 9 gene DOID:630 genetic disease ISO RGD:1352767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0050444 infantile Refsum disease ISO RGD:1316906 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1316906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1316906 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX5 defect PMID:25741868 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1316906 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:25741868|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080477 peroxisome biogenesis disorder 2A ISO RGD:1316906 D RGD:7240710 20180130 OMIM 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080477 peroxisome biogenesis disorder 2A ISO RGD:1316906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger) PMID:17576681|PMID:18712838|PMID:21031596|PMID:25741868|PMID:26344566|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031|PMID:7719337|PMID:9536098 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1316906 D RGD:7240710 20180130 OMIM 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1316906 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:16199547|PMID:17576681|PMID:18712838|PMID:21031596|PMID:25741868|PMID:26220973|PMID:26344566|PMID:27290639|PMID:28492532|PMID:32901917|PMID:33389129|PMID:33584783|PMID:35346031|PMID:7719337|PMID:9536098 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0110854 rhizomelic chondrodysplasia punctata type 5 ISO RGD:1316906 D RGD:7240710 20180130 OMIM 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0110854 rhizomelic chondrodysplasia punctata type 5 ISO RGD:1316906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 PMID:25741868|PMID:26220973|PMID:28492532 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:10907 microcephaly ISO RGD:1316906 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:26220973 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:630 genetic disease ISO RGD:1316906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32901917|PMID:33584783|PMID:35346031|PMID:9536098 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:9003063 Cerebrohepatorenal Syndrome, Variant Types ISO RGD:1316906 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cerebrohepatorenal syndrome, variant types PMID:25741868|PMID:26344566|PMID:28492532 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1316906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:905 Zellweger syndrome ISO RGD:1316906 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:25741868|PMID:26344566|PMID:28492532 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:906 peroxisomal disease ISO RGD:1316907 D RGD:9068941 20200609 RGD PMID:15732085|REF_RGD_ID:13207458 8815742 Pex5 peroxisomal biogenesis factor 5 gene DOID:9452 steatotic liver disease ISO RGD:1316907 D RGD:9068941 20200609 RGD PMID:21756965|REF_RGD_ID:25440484 8815764 Cblif cobalamin binding intrinsic factor gene DOID:0050734 congenital intrinsic factor deficiency ISO RGD:735662 D RGD:7240710 20180130 OMIM 8815764 Cblif cobalamin binding intrinsic factor gene DOID:0050734 congenital intrinsic factor deficiency ISO RGD:735662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency PMID:14576042|PMID:14695536|PMID:15738392|PMID:16199547|PMID:17576681|PMID:19036097|PMID:20408840|PMID:21867658|PMID:22854512|PMID:22929189|PMID:24033266|PMID:25308559|PMID:25640679|PMID:25741868|PMID:27577878|PMID:28492532|PMID:9536098 8815764 Cblif cobalamin binding intrinsic factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8815764 Cblif cobalamin binding intrinsic factor gene DOID:1059 intellectual disability ISO RGD:735662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8815764 Cblif cobalamin binding intrinsic factor gene DOID:10808 gastric ulcer ISO RGD:735662 D RGD:9068941 20200609 RGD associated with Polycythemia; mRNA:decreased expression:gastric mucosa: PMID:26485402|REF_RGD_ID:11049581 8815764 Cblif cobalamin binding intrinsic factor gene DOID:13381 pernicious anemia ISO RGD:735662 D RGD:9068941 20200609 RGD PMID:167441|PMID:4434116|REF_RGD_ID:11049584|REF_RGD_ID:11049587 8815764 Cblif cobalamin binding intrinsic factor gene DOID:4029 gastritis ISO RGD:62084 D RGD:9068941 20200609 RGD PMID:1097299|REF_RGD_ID:11049585 8815764 Cblif cobalamin binding intrinsic factor gene DOID:5419 schizophrenia ISO RGD:735662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8815764 Cblif cobalamin binding intrinsic factor gene DOID:630 genetic disease ISO RGD:735662 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8815764 Cblif cobalamin binding intrinsic factor gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:735662 D RGD:9068941 20200609 RGD DNA:polymorphisms, missense mutations, splice sites:exon,intron: PMID:15738392|REF_RGD_ID:11049583 8815764 Cblif cobalamin binding intrinsic factor gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:735662 D RGD:9068941 20200609 RGD protein:increased excretion:urine: PMID:10435666|REF_RGD_ID:11049586 8815794 Wdr91 WD repeat domain 91 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8815794 Wdr91 WD repeat domain 91 gene DOID:630 genetic disease ISO RGD:1606020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815817 Sec23ip SEC23 interacting protein gene DOID:630 genetic disease ISO RGD:1319616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815848 Lect2 leukocyte cell derived chemotaxin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313416 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8815848 Lect2 leukocyte cell derived chemotaxin 2 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1313416 D RGD:9068941 20220818 RGD human cells in mouse model PMID:30453282|REF_RGD_ID:153323337 8815848 Lect2 leukocyte cell derived chemotaxin 2 gene DOID:630 genetic disease ISO RGD:1313416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815848 Lect2 leukocyte cell derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313416 D RGD:9068941 20220818 RGD protein:increased expression:blood serum (human) PMID:24892551|REF_RGD_ID:153323333 8815848 Lect2 leukocyte cell derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1313417 D RGD:9068941 20220818 RGD protein:increased expression:blood serum (mouse) PMID:24892551|REF_RGD_ID:153323333 8815848 Lect2 leukocyte cell derived chemotaxin 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1313416 D RGD:9068941 20220818 RGD human cells in mouse model PMID:21394108|REF_RGD_ID:153323335 8815848 Lect2 leukocyte cell derived chemotaxin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30453282 8815848 Lect2 leukocyte cell derived chemotaxin 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:1313416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30453282 8815848 Lect2 leukocyte cell derived chemotaxin 2 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1313416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30453282 8815848 Lect2 leukocyte cell derived chemotaxin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8815848 Lect2 leukocyte cell derived chemotaxin 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1313416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30453282 8815848 Lect2 leukocyte cell derived chemotaxin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313416 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8815895 Ahnak AHNAK nucleoprotein gene DOID:0080600 COVID-19 ISO RGD:1345625 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8815895 Ahnak AHNAK nucleoprotein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8815895 Ahnak AHNAK nucleoprotein gene DOID:10487 Hirschsprung's disease ISO RGD:1345625 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:28492532 8815895 Ahnak AHNAK nucleoprotein gene DOID:1059 intellectual disability ISO RGD:1345625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8815895 Ahnak AHNAK nucleoprotein gene DOID:11372 megacolon ISO RGD:1345625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8815895 Ahnak AHNAK nucleoprotein gene DOID:417 autoimmune disease ISO RGD:619779 D RGD:9068941 20200609 RGD PMID:11866458|REF_RGD_ID:625427 8815895 Ahnak AHNAK nucleoprotein gene DOID:4450 renal cell carcinoma ISO RGD:1345625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8815895 Ahnak AHNAK nucleoprotein gene DOID:630 genetic disease ISO RGD:1345625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8815895 Ahnak AHNAK nucleoprotein gene DOID:9001341 Chloracne ISO RGD:1345625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8815895 Ahnak AHNAK nucleoprotein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8815895 Ahnak AHNAK nucleoprotein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 8815909 Pacsin1 protein kinase C and casein kinase substrate in neurons 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:736787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8815909 Pacsin1 protein kinase C and casein kinase substrate in neurons 1 gene DOID:630 genetic disease ISO RGD:736787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815923 Kif5c kinesin family member 5C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318371 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex, cerebellum (mouse) PMID:23006449|REF_RGD_ID:12798528 8815923 Kif5c kinesin family member 5C gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1318370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:19904302|PMID:21981781|PMID:23632792 8815923 Kif5c kinesin family member 5C gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1318370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 8815923 Kif5c kinesin family member 5C gene DOID:0090133 complex cortical dysplasia with other brain malformations 2 ISO RGD:1318370 D RGD:7240710 20180130 OMIM 8815923 Kif5c kinesin family member 5C gene DOID:0090133 complex cortical dysplasia with other brain malformations 2 ISO RGD:1318370 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 2 PMID:23033978|PMID:23603762|PMID:24088041|PMID:24812067|PMID:25741868|PMID:26633545|PMID:29048727|PMID:34490615|PMID:35231114 8815923 Kif5c kinesin family member 5C gene DOID:0110042 Alzheimer's disease 3 ISO RGD:1318370 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum (human) PMID:24569455|REF_RGD_ID:12859086 8815923 Kif5c kinesin family member 5C gene DOID:10907 microcephaly ISO RGD:1318370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 8815923 Kif5c kinesin family member 5C gene DOID:12557 Duane retraction syndrome ISO RGD:1318370 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome PMID:25741868 8815923 Kif5c kinesin family member 5C gene DOID:127 leiomyoma ISO RGD:1318370 D RGD:9068941 20200609 RGD mRNA:increased expression:myometrium (human) PMID:20396563|REF_RGD_ID:12859089 8815923 Kif5c kinesin family member 5C gene DOID:5419 schizophrenia ISO RGD:1318370 D RGD:9068941 20200609 RGD DNA:snp:enhancer:T>C (rs10929935) (human) PMID:24581549|REF_RGD_ID:12859088 8815923 Kif5c kinesin family member 5C gene DOID:560 jaw-winking syndrome ISO RGD:1318370 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Jaw-winking syndrome PMID:25741868 8815923 Kif5c kinesin family member 5C gene DOID:630 genetic disease ISO RGD:1318370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815923 Kif5c kinesin family member 5C gene DOID:9008582 Developmental Disease ISO RGD:1318370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:0060041 autism spectrum disorder ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252227|PMID:20844286 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:0080600 COVID-19 ISO RGD:731730 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:10283 prostate cancer ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:10487 Hirschsprung's disease ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:1059 intellectual disability ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:1227 neutropenia ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12562666 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:12849 autistic disorder ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:14218 dihydropyrimidine dehydrogenase deficiency ISO RGD:731730 D RGD:7240710 20180130 OMIM 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:14218 dihydropyrimidine dehydrogenase deficiency ISO RGD:731730 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: 5-fluorouracil toxicity | ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency | ClinVar Annotator: match by term: Hereditary Thymine-Uraciluria | ClinVar Annotator: match by term: Pyrimidinemia familial PMID:10071185|PMID:10657402|PMID:10671643|PMID:10803677|PMID:11156223|PMID:11179210|PMID:11350878|PMID:11555601|PMID:11783493|PMID:11875367|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12164772|PMID:12209976|PMID:12360106|PMID:12562666|PMID:12851836|PMID:12885330|PMID:12912951|PMID:14635116|PMID:15017333|PMID:15102667|PMID:15132136|PMID:15571261|PMID:15591715|PMID:15858133|PMID:15890268|PMID:15899693|PMID:16033824|PMID:16115930|PMID:16151913|PMID:16361556|PMID:1648430|PMID:16719540|PMID:17000684|PMID:17000685|PMID:17046731|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17417073|PMID:17563256|PMID:17700593|PMID:17828463|PMID:17848752|PMID:17876700|PMID:17905396|PMID:18006695|PMID:18299612|PMID:18443386|PMID:18452418|PMID:18600527|PMID:18600544|PMID:18619742|PMID:18937829|PMID:19104657|PMID:19287123|PMID:19288105|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19822137|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20530282|PMID:20647221|PMID:20803296|PMID:20809970|PMID:20819423|PMID:20920994|PMID:20981092|PMID:21077799|PMID:21114665|PMID:21228398|PMID:21410976|PMID:21412232|PMID:21420945|PMID:21498394|PMID:21590448|PMID:21723269|PMID:21833589|PMID:21878539|PMID:21919607|PMID:22339448|PMID:22353294|PMID:22490566|PMID:22992668|PMID:22995991|PMID:23042115|PMID:23139054|PMID:23199091|PMID:23238479|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23517808|PMID:23585145|PMID:23588312|PMID:23596069|PMID:23603345|PMID:23736036|PMID:23781135|PMID:23930673|PMID:23942539|PMID:23960437|PMID:23988873|PMID:24037119|PMID:24107927|PMID:24167597|PMID:24310106|PMID:24326041|PMID:24388031|PMID:24434920|PMID:24590654|PMID:24647007|PMID:2464834|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:24943064|PMID:25087612|PMID:25110414|PMID:25117664|PMID:25381393|PMID:25410891|PMID:25420024|PMID:25565930|PMID:25590979|PMID:25677447|PMID:25741868|PMID:25782327|PMID:25826134|PMID:26099996|PMID:26216193|PMID:26254383|PMID:26265035|PMID:26265346|PMID:26330892|PMID:26467025|PMID:26505400|PMID:26551538|PMID:26603945|PMID:26621101|PMID:26623034|PMID:26651493|PMID:26658227|PMID:26716401|PMID:26792652|PMID:26794347|PMID:26804235|PMID:26804652|PMID:26846104|PMID:26894782|PMID:26967565|PMID:27122156|PMID:27248859|PMID:27281625|PMID:27311679|PMID:27454530|PMID:27544765|PMID:27701067|PMID:27727460|PMID:27738344|PMID:27752409|PMID:27864592|PMID:27884173|PMID:27995989|PMID:28024938|PMID:28027897|PMID:28112993|PMID:28128059|PMID:28237406|PMID:28262261|PMID:28295243|PMID:28395758|PMID:28427087|PMID:28481884|PMID:28492532|PMID:28572524|PMID:28614820|PMID:28745575|PMID:28929491|PMID:28950804|PMID:29045550|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29236957|PMID:29239269|PMID:29327356|PMID:29769267|PMID:29778030|PMID:29846282|PMID:29889674|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30349988|PMID:30485432|PMID:30510603|PMID:30723313|PMID:30775324|PMID:30858516|PMID:30898145|PMID:30945278|PMID:31382864|PMID:31486738|PMID:31589614|PMID:31745289|PMID:32378051|PMID:32529295|PMID:32595208|PMID:32619063|PMID:32707991|PMID:32899374|PMID:32973300|PMID:33232506|PMID:33410339|PMID:33620159|PMID:33965356|PMID:34055682|PMID:34916829|PMID:35306539|PMID:36430399|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9010022|PMID:9254861|PMID:9266349|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374|PMID:9721209|PMID:9865912 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:1793 pancreatic cancer ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17443278|PMID:19020767 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:1793 pancreatic cancer ISO RGD:731730 D RGD:9068941 20200609 RGD PMID:18309485|REF_RGD_ID:2317630 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:731730 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20072795|REF_RGD_ID:2317629 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:1826 epilepsy ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:3121 gallbladder cancer disease_progression ISO RGD:731730 D RGD:9068941 20200609 RGD PMID:16619549|REF_RGD_ID:2317631 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:409 liver disease ISO RGD:621218 D RGD:9068941 20200609 RGD mRNA, Protein:increased expression PMID:10348793|REF_RGD_ID:1599789 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:5419 schizophrenia ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:574 peripheral nervous system disease ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:630 genetic disease ISO RGD:731730 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11156223|PMID:11988088|PMID:12912951|PMID:14635116|PMID:16033824|PMID:16115930|PMID:17064846|PMID:17121937|PMID:17700593|PMID:17828463|PMID:17876700|PMID:18299612|PMID:19104657|PMID:19287123|PMID:19288105|PMID:19473056|PMID:19795123|PMID:20819423|PMID:21077799|PMID:21410976|PMID:21420945|PMID:21498394|PMID:21833589|PMID:21919607|PMID:22992668|PMID:23588312|PMID:23596069|PMID:23603345|PMID:23736036|PMID:23930673|PMID:23960437|PMID:23988873|PMID:24167597|PMID:24326041|PMID:24590654|PMID:24647007|PMID:2464834|PMID:24648345|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26254383|PMID:26265035|PMID:26265346|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:27122156|PMID:27454530|PMID:27727460|PMID:27995989|PMID:28295243|PMID:28427087|PMID:28481884|PMID:28492532|PMID:29065426|PMID:29152729|PMID:29327356|PMID:29769267|PMID:29846282|PMID:29889674|PMID:29998006|PMID:30114658|PMID:30485432|PMID:30510603|PMID:30723313|PMID:30858516|PMID:31486738|PMID:31745289|PMID:32529295|PMID:32595208|PMID:32707991|PMID:33232506|PMID:35306539|PMID:36430399 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15571261|PMID:3335642 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18019677 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:863 nervous system disease ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16435204 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9000217 Stomach Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15837757|PMID:17089033|PMID:18652704 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9000965 Neoplasm Metastasis ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17611699 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Colonic Neoplasms PMID:11383214|REF_RGD_ID:11251755 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9002704 Leukoencephalopathies ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11148247 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9002775 Cognitive Dysfunction ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9002928 Colonic Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004278 Sarcoma, Yoshida treatment ISO RGD:621218 D RGD:9068941 20200609 RGD PMID:8138551|REF_RGD_ID:11251753 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia no_association ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:missense mutations: :multiple PMID:19473056|REF_RGD_ID:11098817 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD DNA:splice-site mutation, missense mutations: :multiple PMID:11156223|REF_RGD_ID:11251738 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human) PMID:23942539|REF_RGD_ID:11251737 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human) PMID:19473056|REF_RGD_ID:11098817 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human) PMID:12209976|REF_RGD_ID:11251736 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human) PMID:19473056|REF_RGD_ID:11098817 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:731730 D RGD:9068941 20200609 RGD associated with Stomach Neoplasms PMID:23064955|REF_RGD_ID:11251740 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9005078 Congenital Macroglossia ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant tongue PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9005172 Lung Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9005466 Language Development Disorders ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21114665 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731730 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs12119882 (human) PMID:28347776|REF_RGD_ID:152995291 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hapsburg jaw PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9007817 Macroglossia ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9008086 Developmental Disabilities ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9008443 Colorectal Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15222106|PMID:15814641|PMID:17047489|PMID:17611699|PMID:19020767 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9008589 Hallux Valgus ISO RGD:731730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hallux valgus PMID:10071185|PMID:10657402|PMID:10803677|PMID:11156223|PMID:11350878|PMID:11555601|PMID:11895907|PMID:11953843|PMID:11988088|PMID:12209976|PMID:12360106|PMID:12912951|PMID:15017333|PMID:15858133|PMID:16151913|PMID:16361556|PMID:17000685|PMID:17064846|PMID:17121937|PMID:17165084|PMID:17203168|PMID:17335544|PMID:17700593|PMID:18299612|PMID:18443386|PMID:18600527|PMID:19104657|PMID:19473056|PMID:19530960|PMID:19795123|PMID:19858398|PMID:20385995|PMID:20507294|PMID:20803296|PMID:20809970|PMID:20819423|PMID:21410976|PMID:21498394|PMID:21723269|PMID:21919607|PMID:22339448|PMID:22992668|PMID:23328581|PMID:23335937|PMID:23481061|PMID:23585145|PMID:23603345|PMID:23736036|PMID:23930673|PMID:24167597|PMID:24590654|PMID:24647007|PMID:24648345|PMID:24700034|PMID:24817302|PMID:24923815|PMID:25381393|PMID:25410891|PMID:25590979|PMID:25677447|PMID:25741868|PMID:26099996|PMID:26216193|PMID:26265035|PMID:26467025|PMID:26603945|PMID:26794347|PMID:26804652|PMID:26846104|PMID:26967565|PMID:27454530|PMID:27738344|PMID:27864592|PMID:28295243|PMID:28481884|PMID:28929491|PMID:28950804|PMID:29065426|PMID:29134491|PMID:29152729|PMID:29998006|PMID:30114658|PMID:30348537|PMID:30485432|PMID:30723313|PMID:30775324|PMID:30898145|PMID:31382864|PMID:31745289|PMID:7832988|PMID:8051923|PMID:8698850|PMID:8892022|PMID:9323575|PMID:9439663|PMID:9470816|PMID:9472650|PMID:9686374 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9008939 Breast Neoplasms ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9256 colorectal cancer ISO RGD:621218 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:23197286|REF_RGD_ID:11251746 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:731730 D RGD:9068941 20200609 RGD DNA:SNP: :85T>C (human) PMID:26846104|REF_RGD_ID:11098453 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731730 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:IVS14+1G>A (human) PMID:26846104|REF_RGD_ID:11098453 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:731730 D RGD:9068941 20200609 RGD DNA:SNPs: :2194G>A, 1156G>T (human) PMID:26846104|REF_RGD_ID:11098453 8815965 Dpyd dihydropyrimidine dehydrogenase gene DOID:9970 obesity ISO RGD:731730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8815991 Zp4 zona pellucida glycoprotein 4 gene DOID:10283 prostate cancer ISO RGD:1345250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8815991 Zp4 zona pellucida glycoprotein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1345250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8815991 Zp4 zona pellucida glycoprotein 4 gene DOID:630 genetic disease ISO RGD:1345250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8815991 Zp4 zona pellucida glycoprotein 4 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345250 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 8815991 Zp4 zona pellucida glycoprotein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8816005 St8sia1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 gene DOID:3602 toxic encephalopathy ISO RGD:1603707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8816005 St8sia1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 gene DOID:409 liver disease ISO RGD:1603707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8816005 St8sia1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1603707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816014 Strada STE20 related adaptor alpha gene DOID:0050902 medulloblastoma ISO RGD:1606991 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21652733 8816014 Strada STE20 related adaptor alpha gene DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy ISO RGD:1606991 D RGD:7240710 20180130 OMIM 8816014 Strada STE20 related adaptor alpha gene DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy ISO RGD:1606991 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy PMID:16199547|PMID:17522105|PMID:17576681|PMID:20424326|PMID:25741868|PMID:27170158|PMID:28492532|PMID:29358611|PMID:33605605|PMID:35830182|PMID:9536098 8816014 Strada STE20 related adaptor alpha gene DOID:1826 epilepsy ISO RGD:1606991 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:33605605 8816014 Strada STE20 related adaptor alpha gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1606991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:28492532|PMID:29358611 8816014 Strada STE20 related adaptor alpha gene DOID:630 genetic disease ISO RGD:1606991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8816049 Rpl37a ribosomal protein L37a gene DOID:11612 polycystic ovary syndrome ISO RGD:1317728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8816049 Rpl37a ribosomal protein L37a gene DOID:630 genetic disease ISO RGD:1317728 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816049 Rpl37a ribosomal protein L37a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8816062 Rnf138 ring finger protein 138 gene DOID:0080600 COVID-19 ISO RGD:1605080 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8816062 Rnf138 ring finger protein 138 gene DOID:1059 intellectual disability ISO RGD:1605080 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8816062 Rnf138 ring finger protein 138 gene DOID:630 genetic disease ISO RGD:1605080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816075 Serpinb1 serpin family B member 1 gene DOID:630 genetic disease ISO RGD:1314687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816103 Cpxm2 carboxypeptidase X, M14 family member 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1345488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8816103 Cpxm2 carboxypeptidase X, M14 family member 2 gene DOID:630 genetic disease ISO RGD:1345488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816121 Il18 interleukin 18 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Epstein-Barr Virus Infections;protein:increased expression:serum PMID:20472718|REF_RGD_ID:8655917 8816121 Il18 interleukin 18 gene DOID:0050847 sleep apnea severity ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:19187612|REF_RGD_ID:4889903 8816121 Il18 interleukin 18 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16428475|REF_RGD_ID:8655925 8816121 Il18 interleukin 18 gene DOID:0060319 cardiac arrest ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:18679114|REF_RGD_ID:4889454 8816121 Il18 interleukin 18 gene DOID:0070227 intrahepatic cholestasis of pregnancy severity ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:28697498|REF_RGD_ID:14696655 8816121 Il18 interleukin 18 gene DOID:0080162 lupus nephritis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:20980973|REF_RGD_ID:6893449 8816121 Il18 interleukin 18 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20422882|REF_RGD_ID:14696664 8816121 Il18 interleukin 18 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:28660148|REF_RGD_ID:14696674 8816121 Il18 interleukin 18 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:24006666|REF_RGD_ID:8655964 8816121 Il18 interleukin 18 gene DOID:0080600 COVID-19 ISO RGD:730894 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8816121 Il18 interleukin 18 gene DOID:0080600 COVID-19 ISO RGD:730894 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8816121 Il18 interleukin 18 gene DOID:0080600 COVID-19 severity ISO RGD:730894 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 8816121 Il18 interleukin 18 gene DOID:0080745 polymyositis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20601655|REF_RGD_ID:4889547 8816121 Il18 interleukin 18 gene DOID:0080784 urinary tract infection ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19171043|REF_RGD_ID:2311084 8816121 Il18 interleukin 18 gene DOID:0081120 Graves ophthalmopathy treatment ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:12689659|REF_RGD_ID:8655878 8816121 Il18 interleukin 18 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:730894 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8816121 Il18 interleukin 18 gene DOID:10223 dermatomyositis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20601655|REF_RGD_ID:4889547 8816121 Il18 interleukin 18 gene DOID:10457 Legionnaires' disease ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:11083766|REF_RGD_ID:4889865 8816121 Il18 interleukin 18 gene DOID:1059 intellectual disability ISO RGD:730894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8816121 Il18 interleukin 18 gene DOID:10955 strongyloidiasis treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16129701|REF_RGD_ID:8655932 8816121 Il18 interleukin 18 gene DOID:11162 respiratory failure ISO RGD:730894 D RGD:9068941 20200609 RGD associated with pancreatitis; protein:increased expression:plasma PMID:19357034|REF_RGD_ID:4889556 8816121 Il18 interleukin 18 gene DOID:11335 sarcoidosis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16100009 8816121 Il18 interleukin 18 gene DOID:11335 sarcoidosis disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17015003|REF_RGD_ID:4889815 8816121 Il18 interleukin 18 gene DOID:11396 pulmonary edema ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19394645|REF_RGD_ID:4889555 8816121 Il18 interleukin 18 gene DOID:114 heart disease ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:20644901|REF_RGD_ID:4889158 8816121 Il18 interleukin 18 gene DOID:1205 allergic disease ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8816121 Il18 interleukin 18 gene DOID:12351 alcoholic hepatitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD associated alcoholic liver cirrhosis; protein:increased expression:plasma: PMID:15566508|REF_RGD_ID:14696666 8816121 Il18 interleukin 18 gene DOID:12361 Graves' disease ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12689659|REF_RGD_ID:8655878 8816121 Il18 interleukin 18 gene DOID:12361 Graves' disease no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:multiple PMID:16571086|REF_RGD_ID:8655916 8816121 Il18 interleukin 18 gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:730894 D RGD:9068941 20201015 RGD PMID:28992214|REF_RGD_ID:39938858 8816121 Il18 interleukin 18 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs360721 (human) PMID:18043444|REF_RGD_ID:4889584 8816121 Il18 interleukin 18 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:20130064|REF_RGD_ID:4889550 8816121 Il18 interleukin 18 gene DOID:12894 Sjogren's syndrome ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:saliva PMID:23906036|REF_RGD_ID:8655918 8816121 Il18 interleukin 18 gene DOID:13141 uveitis treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:22562515|REF_RGD_ID:8655982 8816121 Il18 interleukin 18 gene DOID:13241 Behcet's disease ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:14727452|REF_RGD_ID:4889844 8816121 Il18 interleukin 18 gene DOID:13241 Behcet's disease no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human) PMID:16273766|REF_RGD_ID:8655910 8816121 Il18 interleukin 18 gene DOID:13241 Behcet's disease no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human) PMID:21532063|REF_RGD_ID:8655926 8816121 Il18 interleukin 18 gene DOID:13241 Behcet's disease susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) PMID:17055358|REF_RGD_ID:8655897 8816121 Il18 interleukin 18 gene DOID:13241 Behcet's disease susceptibility ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:15234532|REF_RGD_ID:8655927 8816121 Il18 interleukin 18 gene DOID:13375 temporal arteritis ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human) PMID:20331879|REF_RGD_ID:8655865 8816121 Il18 interleukin 18 gene DOID:13375 temporal arteritis no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:20331879|REF_RGD_ID:8655865 8816121 Il18 interleukin 18 gene DOID:13378 Kawasaki disease ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908) (human) PMID:19288449|REF_RGD_ID:8655898 8816121 Il18 interleukin 18 gene DOID:13378 Kawasaki disease disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:15345916|REF_RGD_ID:8655924 8816121 Il18 interleukin 18 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human) PMID:18484687|REF_RGD_ID:8655874 8816121 Il18 interleukin 18 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:16734560|REF_RGD_ID:4889823 8816121 Il18 interleukin 18 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11174201|REF_RGD_ID:4889863 8816121 Il18 interleukin 18 gene DOID:13608 biliary atresia ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10726686|REF_RGD_ID:14695529 8816121 Il18 interleukin 18 gene DOID:13608 biliary atresia susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human) PMID:30059753|REF_RGD_ID:14695528 8816121 Il18 interleukin 18 gene DOID:14566 disease of cellular proliferation ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21273262 8816121 Il18 interleukin 18 gene DOID:1485 cystic fibrosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20026745|REF_RGD_ID:4889551 8816121 Il18 interleukin 18 gene DOID:1555 urticaria ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 8816121 Il18 interleukin 18 gene DOID:1555 urticaria ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:24490166|REF_RGD_ID:8655890 8816121 Il18 interleukin 18 gene DOID:1555 urticaria ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) PMID:21692767|REF_RGD_ID:8655894 8816121 Il18 interleukin 18 gene DOID:1612 breast cancer ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:19152241|REF_RGD_ID:8655899 8816121 Il18 interleukin 18 gene DOID:1612 breast cancer ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12209760|REF_RGD_ID:8655866 8816121 Il18 interleukin 18 gene DOID:1612 breast cancer no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-607C>A (rs1946518) (human) PMID:19152241|REF_RGD_ID:8655899 8816121 Il18 interleukin 18 gene DOID:1679 cystitis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:urine, bladder PMID:18848347|REF_RGD_ID:2317284 8816121 Il18 interleukin 18 gene DOID:182 calcinosis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8816121 Il18 interleukin 18 gene DOID:1824 status epilepticus ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:20674684|REF_RGD_ID:4889491 8816121 Il18 interleukin 18 gene DOID:1883 hepatitis C ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:27927859|REF_RGD_ID:14696653 8816121 Il18 interleukin 18 gene DOID:1883 hepatitis C disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:21984735|REF_RGD_ID:14696657 8816121 Il18 interleukin 18 gene DOID:1883 hepatitis C disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-607C>A, -137G>C(human) PMID:18781864|REF_RGD_ID:14695527 8816121 Il18 interleukin 18 gene DOID:1883 hepatitis C susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-607C>A (rs1946518)(human) PMID:26486291|REF_RGD_ID:14696654 8816121 Il18 interleukin 18 gene DOID:1883 hepatitis C treatment ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-137G>C,-607C>A(human) PMID:19455410|REF_RGD_ID:14695530 8816121 Il18 interleukin 18 gene DOID:1936 atherosclerosis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16732281|REF_RGD_ID:14695532 8816121 Il18 interleukin 18 gene DOID:1936 atherosclerosis treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23685195|REF_RGD_ID:8655997 8816121 Il18 interleukin 18 gene DOID:2043 hepatitis B disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,intron,exon:���148G>C, +8925C>G,+13925A>C(human) PMID:19466545|REF_RGD_ID:14696658 8816121 Il18 interleukin 18 gene DOID:2043 hepatitis B susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma; DNA:SNP:promoter:-137G>C(rs187238)(human) PMID:27429592|REF_RGD_ID:14695540 8816121 Il18 interleukin 18 gene DOID:2048 autoimmune hepatitis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 8816121 Il18 interleukin 18 gene DOID:2316 brain ischemia ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:11807395|REF_RGD_ID:4889510 8816121 Il18 interleukin 18 gene DOID:2316 brain ischemia ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 8816121 Il18 interleukin 18 gene DOID:2723 dermatitis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:12925208|REF_RGD_ID:8655896 8816121 Il18 interleukin 18 gene DOID:2773 contact dermatitis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8816121 Il18 interleukin 18 gene DOID:2841 asthma ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:20497957|REF_RGD_ID:4889898 8816121 Il18 interleukin 18 gene DOID:2841 asthma ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:18826499|PMID:20497957|REF_RGD_ID:4889898|REF_RGD_ID:4889908 8816121 Il18 interleukin 18 gene DOID:2841 asthma disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11174201|REF_RGD_ID:4889863 8816121 Il18 interleukin 18 gene DOID:2841 asthma severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter: c.-380C>G (rs5744247)(human) PMID:19745201|REF_RGD_ID:4889900 8816121 Il18 interleukin 18 gene DOID:2841 asthma severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human) PMID:17767553|REF_RGD_ID:4889585 8816121 Il18 interleukin 18 gene DOID:2841 asthma susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.and -137G>C (rs187238)(human) PMID:16433859|REF_RGD_ID:4889923 8816121 Il18 interleukin 18 gene DOID:2841 asthma susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:polymorphism: :c. -105A>C (human) PMID:18200581|REF_RGD_ID:4889910 8816121 Il18 interleukin 18 gene DOID:2921 glomerulonephritis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18462998 8816121 Il18 interleukin 18 gene DOID:2945 severe acute respiratory syndrome ISO RGD:730894 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 8816121 Il18 interleukin 18 gene DOID:2957 pulmonary tuberculosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15955140|REF_RGD_ID:4889836 8816121 Il18 interleukin 18 gene DOID:2986 IgA glomerulonephritis ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:22518072|REF_RGD_ID:6893446 8816121 Il18 interleukin 18 gene DOID:2987 familial mediterranean fever ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16273770|REF_RGD_ID:8655877 8816121 Il18 interleukin 18 gene DOID:3008 invasive ductal carcinoma ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:21263407|REF_RGD_ID:8655888 8816121 Il18 interleukin 18 gene DOID:3021 acute kidney failure ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:11342578|REF_RGD_ID:6893450 8816121 Il18 interleukin 18 gene DOID:3042 allergic contact dermatitis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585668 8816121 Il18 interleukin 18 gene DOID:3042 allergic contact dermatitis ISO RGD:730895 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:9781803|REF_RGD_ID:8655902 8816121 Il18 interleukin 18 gene DOID:3042 allergic contact dermatitis treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:12874202|REF_RGD_ID:8655940 8816121 Il18 interleukin 18 gene DOID:3070 high grade glioma treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:18725309|REF_RGD_ID:8657054 8816121 Il18 interleukin 18 gene DOID:3082 interstitial lung disease ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Pseudomonas Infection; protein:increased expression:lung PMID:20543002|REF_RGD_ID:4889883 8816121 Il18 interleukin 18 gene DOID:3082 interstitial lung disease ISO RGD:730894 D RGD:9068941 20200609 RGD associated with dermatomyositis; protein:increased expression:serum PMID:20601655|REF_RGD_ID:4889547 8816121 Il18 interleukin 18 gene DOID:3082 interstitial lung disease ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:21257923|REF_RGD_ID:5144220 8816121 Il18 interleukin 18 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20026745|REF_RGD_ID:4889551 8816121 Il18 interleukin 18 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:sputum, macrophage PMID:19208460|REF_RGD_ID:4889575 8816121 Il18 interleukin 18 gene DOID:326 ischemia ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:21289055|REF_RGD_ID:6893448 8816121 Il18 interleukin 18 gene DOID:3310 atopic dermatitis ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11490156|REF_RGD_ID:8655908 8816121 Il18 interleukin 18 gene DOID:3310 atopic dermatitis no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:22840759|REF_RGD_ID:8655914 8816121 Il18 interleukin 18 gene DOID:3310 atopic dermatitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-140C>G (rs360721) (human) PMID:22840759|REF_RGD_ID:8655914 8816121 Il18 interleukin 18 gene DOID:3310 atopic dermatitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human) PMID:17517100|REF_RGD_ID:8655876 8816121 Il18 interleukin 18 gene DOID:3310 atopic dermatitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15317323|REF_RGD_ID:8655872 8816121 Il18 interleukin 18 gene DOID:3526 cerebral infarction treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:20584315|REF_RGD_ID:8655991 8816121 Il18 interleukin 18 gene DOID:3770 pulmonary fibrosis ISO RGD:730894 D RGD:9068941 20200609 RGD idiopathic pulmonary fibrosis; protein:increased expression:lung, serum PMID:15308504|REF_RGD_ID:4889841 8816121 Il18 interleukin 18 gene DOID:3770 pulmonary fibrosis ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18598692|REF_RGD_ID:4889581 8816121 Il18 interleukin 18 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15955140|REF_RGD_ID:4889836 8816121 Il18 interleukin 18 gene DOID:4079 heart valve disease ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8816121 Il18 interleukin 18 gene DOID:4481 allergic rhinitis no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-140C>G (rs360721) (human) PMID:22840759|REF_RGD_ID:8655914 8816121 Il18 interleukin 18 gene DOID:4481 allergic rhinitis severity ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:22840759|REF_RGD_ID:8655914 8816121 Il18 interleukin 18 gene DOID:4483 rhinitis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17323858|REF_RGD_ID:4889916 8816121 Il18 interleukin 18 gene DOID:4483 rhinitis ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:nasal lavage fluid, bronchoalveolar lavage fluid PMID:17305282|REF_RGD_ID:4889917 8816121 Il18 interleukin 18 gene DOID:4483 rhinitis disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD rhinitis allergic, seasonal; protein:increased expression:plasma PMID:15934281|REF_RGD_ID:4889927 8816121 Il18 interleukin 18 gene DOID:4724 brain edema treatment ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:22338606|REF_RGD_ID:6771363 8816121 Il18 interleukin 18 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:22046355|REF_RGD_ID:6893447 8816121 Il18 interleukin 18 gene DOID:4989 pancreatitis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19238530|REF_RGD_ID:4889404 8816121 Il18 interleukin 18 gene DOID:4989 pancreatitis treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23983797|REF_RGD_ID:8655988 8816121 Il18 interleukin 18 gene DOID:5082 liver cirrhosis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC: PMID:19740312|REF_RGD_ID:14696656 8816121 Il18 interleukin 18 gene DOID:5082 liver cirrhosis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:12462332|REF_RGD_ID:14695542 8816121 Il18 interleukin 18 gene DOID:5082 liver cirrhosis severity ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC: PMID:19740312|REF_RGD_ID:14696656 8816121 Il18 interleukin 18 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730894 D RGD:9068941 20200609 RGD associated with hepatitis C; protein:increased expression:serum: PMID:27927859|REF_RGD_ID:14696653 8816121 Il18 interleukin 18 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:27927859|REF_RGD_ID:14696653 8816121 Il18 interleukin 18 gene DOID:552 pneumonia ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung,bronchoalveolar fluid PMID:11739527|REF_RGD_ID:729357 8816121 Il18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8816121 Il18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15955140|REF_RGD_ID:4889836 8816121 Il18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17400729|REF_RGD_ID:4889590 8816121 Il18 interleukin 18 gene DOID:552 pneumonia ISO RGD:730895 D RGD:9068941 20200609 RGD associated with reperfusion injury PMID:16052682|REF_RGD_ID:4889825 8816121 Il18 interleukin 18 gene DOID:5614 eye disease susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:16273766|REF_RGD_ID:8655910 8816121 Il18 interleukin 18 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2889 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 8816121 Il18 interleukin 18 gene DOID:630 genetic disease ISO RGD:730894 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816121 Il18 interleukin 18 gene DOID:633 myositis treatment ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:16968394|REF_RGD_ID:8655903 8816121 Il18 interleukin 18 gene DOID:6432 pulmonary hypertension ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17400729|REF_RGD_ID:4889590 8816121 Il18 interleukin 18 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:26893476|REF_RGD_ID:11538094 8816121 Il18 interleukin 18 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD associated with hepatitis B, chronic;DNA:SNP:promoter:-607C>A(human) PMID:27470888|REF_RGD_ID:14696663 8816121 Il18 interleukin 18 gene DOID:684 hepatocellular carcinoma severity ISO RGD:730894 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNPs, haplotype:promoter:-607C>A, -137G>C(human) PMID:29341496|REF_RGD_ID:14695526 8816121 Il18 interleukin 18 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-137G>C(rs187238)(human) PMID:27429592|REF_RGD_ID:14695540 8816121 Il18 interleukin 18 gene DOID:7148 rheumatoid arthritis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16368150 8816121 Il18 interleukin 18 gene DOID:769 neuroblastoma susceptibility ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16428511|REF_RGD_ID:8655920 8816121 Il18 interleukin 18 gene DOID:83 cataract ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:18006521|REF_RGD_ID:8655879 8816121 Il18 interleukin 18 gene DOID:83 cataract ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens PMID:21591858|REF_RGD_ID:8655881 8816121 Il18 interleukin 18 gene DOID:850 lung disease ISO RGD:730894 D RGD:9068941 20200609 RGD acute lung injury; associated with cardiac surgical procedures; DNA:polymorphism: : c. -607 C>G (human) PMID:20522205|REF_RGD_ID:4889548 8816121 Il18 interleukin 18 gene DOID:850 lung disease ISO RGD:730894 D RGD:9068941 20200609 RGD lung injury; protein:increased expression:lung PMID:19265174|REF_RGD_ID:4889574 8816121 Il18 interleukin 18 gene DOID:850 lung disease ISO RGD:730895 D RGD:9068941 20200609 RGD acute lung injury; associated with endotoxemia; PMID:19197224|REF_RGD_ID:4889576 8816121 Il18 interleukin 18 gene DOID:850 lung disease ISO RGD:730895 D RGD:9068941 20200609 RGD lung injury PMID:19265174|REF_RGD_ID:4889574 8816121 Il18 interleukin 18 gene DOID:8566 herpes simplex treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:9971824|REF_RGD_ID:8655923 8816121 Il18 interleukin 18 gene DOID:865 vasculitis ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19717152|REF_RGD_ID:4889401 8816121 Il18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:12032269|PMID:21240009|REF_RGD_ID:5490305|REF_RGD_ID:729222 8816121 Il18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:12529262|REF_RGD_ID:4889473 8816121 Il18 interleukin 18 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17947451|REF_RGD_ID:4889475 8816121 Il18 interleukin 18 gene DOID:874 bacterial pneumonia ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17664259|REF_RGD_ID:4889913 8816121 Il18 interleukin 18 gene DOID:8893 psoriasis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17611614|REF_RGD_ID:8655919 8816121 Il18 interleukin 18 gene DOID:8893 psoriasis treatment ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:22291810|REF_RGD_ID:8655900 8816121 Il18 interleukin 18 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:24801815|REF_RGD_ID:11073600 8816121 Il18 interleukin 18 gene DOID:8947 diabetic retinopathy ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:16260350|REF_RGD_ID:8655907 8816121 Il18 interleukin 18 gene DOID:8947 diabetic retinopathy ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19011009|REF_RGD_ID:4889417 8816121 Il18 interleukin 18 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:18367607|REF_RGD_ID:2315889 8816121 Il18 interleukin 18 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23140983|REF_RGD_ID:8655974 8816121 Il18 interleukin 18 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:serum PMID:12902898|REF_RGD_ID:8655867 8816121 Il18 interleukin 18 gene DOID:9000197 Edema ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19497959|REF_RGD_ID:4889403 8816121 Il18 interleukin 18 gene DOID:9000386 Polyomavirus Infections ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8816121 Il18 interleukin 18 gene DOID:9000528 Coronary Disease ISO RGD:730894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 8816121 Il18 interleukin 18 gene DOID:9000641 Pain ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19853379|REF_RGD_ID:2315887 8816121 Il18 interleukin 18 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:11766995|REF_RGD_ID:4889856 8816121 Il18 interleukin 18 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 8816121 Il18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12748951 8816121 Il18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:SNP:promoter:-137G>C (rs187238) (human) PMID:19152241|REF_RGD_ID:8655899 8816121 Il18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:9068941 20200609 RGD associated with breast cancer;protein:increased expression:serum PMID:12209760|REF_RGD_ID:8655866 8816121 Il18 interleukin 18 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11215816|REF_RGD_ID:4889862 8816121 Il18 interleukin 18 gene DOID:9000998 Brain Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17188500|REF_RGD_ID:2315917 8816121 Il18 interleukin 18 gene DOID:9000998 Brain Injuries severity ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17188500|REF_RGD_ID:2315917 8816121 Il18 interleukin 18 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23000553|REF_RGD_ID:8655963 8816121 Il18 interleukin 18 gene DOID:9001488 Human Influenza ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:15606801|REF_RGD_ID:4889964 8816121 Il18 interleukin 18 gene DOID:9001547 Tibial Fractures ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:19853379|REF_RGD_ID:2315887 8816121 Il18 interleukin 18 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8816121 Il18 interleukin 18 gene DOID:9001708 Hemorrhagic Shock ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23589298|REF_RGD_ID:14695541 8816121 Il18 interleukin 18 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:15770015|REF_RGD_ID:4889960 8816121 Il18 interleukin 18 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:25919765|REF_RGD_ID:14696667 8816121 Il18 interleukin 18 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:14999688|REF_RGD_ID:14696668 8816121 Il18 interleukin 18 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries PMID:19036970|REF_RGD_ID:8655929 8816121 Il18 interleukin 18 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17688413 8816121 Il18 interleukin 18 gene DOID:9002433 Schistosomiasis Japonica treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19467215|REF_RGD_ID:14696662 8816121 Il18 interleukin 18 gene DOID:9002457 Experimental Arthritis ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:15147345|REF_RGD_ID:4889503 8816121 Il18 interleukin 18 gene DOID:9002457 Experimental Arthritis disease_progression ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19096963|REF_RGD_ID:4889415 8816121 Il18 interleukin 18 gene DOID:9002498 Wallerian Degeneration ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:macrophage, microglia: PMID:11494369|REF_RGD_ID:4889526 8816121 Il18 interleukin 18 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:9834127|REF_RGD_ID:4889543 8816121 Il18 interleukin 18 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:9846824|REF_RGD_ID:4889542 8816121 Il18 interleukin 18 gene DOID:9002798 Macrophage Activation Syndrome ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Arthritis, Juvenile;protein:increased expression:serum PMID:20472718|REF_RGD_ID:8655917 8816121 Il18 interleukin 18 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22967010 8816121 Il18 interleukin 18 gene DOID:9002916 Hyperphagia ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16732281|REF_RGD_ID:14695532 8816121 Il18 interleukin 18 gene DOID:9003036 Oral Lichen Planus ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) PMID:17854431|REF_RGD_ID:8655868 8816121 Il18 interleukin 18 gene DOID:9003036 Oral Lichen Planus no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, intron:-656G>T (rs1946519), 1248A>G (rs189667) (human) PMID:17854431|REF_RGD_ID:8655868 8816121 Il18 interleukin 18 gene DOID:9003657 Perennial Allergic Rhinitis susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c. -607A>C (rs1946518) (human) PMID:16406079|REF_RGD_ID:4889924 8816121 Il18 interleukin 18 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16767432|REF_RGD_ID:8655941 8816121 Il18 interleukin 18 gene DOID:9003871 Venous Thrombosis ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22318348|REF_RGD_ID:8655957 8816121 Il18 interleukin 18 gene DOID:9003936 Cardiomegaly ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18660453 8816121 Il18 interleukin 18 gene DOID:9004009 Reperfusion Injury ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19394645|REF_RGD_ID:4889555 8816121 Il18 interleukin 18 gene DOID:9004009 Reperfusion Injury ISO RGD:730895 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16052682|REF_RGD_ID:4889825 8816121 Il18 interleukin 18 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:19740312|REF_RGD_ID:14696656 8816121 Il18 interleukin 18 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-607C>A (rs1946518)(human) PMID:25198668|REF_RGD_ID:14696651 8816121 Il18 interleukin 18 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:730894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8816121 Il18 interleukin 18 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:12230493|PMID:17411412|REF_RGD_ID:8655870|REF_RGD_ID:8655901 8816121 Il18 interleukin 18 gene DOID:9004283 Transplant Rejection ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:21962809|REF_RGD_ID:8655943 8816121 Il18 interleukin 18 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2889 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:24223666|REF_RGD_ID:8655952 8816121 Il18 interleukin 18 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:21045270|REF_RGD_ID:4889546 8816121 Il18 interleukin 18 gene DOID:9004994 Embryo Loss ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:21920610|REF_RGD_ID:8655947 8816121 Il18 interleukin 18 gene DOID:9005236 Drug Eruptions ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 8816121 Il18 interleukin 18 gene DOID:9005966 Staphylococcal Skin Infections treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:21536791|REF_RGD_ID:8655921 8816121 Il18 interleukin 18 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:16864728|REF_RGD_ID:4889500 8816121 Il18 interleukin 18 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:19955748|REF_RGD_ID:4889159 8816121 Il18 interleukin 18 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:22089199|REF_RGD_ID:8655971 8816121 Il18 interleukin 18 gene DOID:9006646 Metabolic Syndrome ISO RGD:2889 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19717152|REF_RGD_ID:4889401 8816121 Il18 interleukin 18 gene DOID:9006646 Metabolic Syndrome ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16644639 8816121 Il18 interleukin 18 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:24456735|REF_RGD_ID:8655985 8816121 Il18 interleukin 18 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:12023376|REF_RGD_ID:8655931 8816121 Il18 interleukin 18 gene DOID:9007096 Stroke ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21171972|REF_RGD_ID:4891154 8816121 Il18 interleukin 18 gene DOID:9007356 Eczema ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:multiple PMID:15806006|REF_RGD_ID:8655937 8816121 Il18 interleukin 18 gene DOID:9007364 Mouth Neoplasms ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24349532 8816121 Il18 interleukin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19164858 8816121 Il18 interleukin 18 gene DOID:9007480 Hyperoxia ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19672068|REF_RGD_ID:4889402 8816121 Il18 interleukin 18 gene DOID:9007692 Insulin Resistance ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16732281|REF_RGD_ID:14695532 8816121 Il18 interleukin 18 gene DOID:9007692 Insulin Resistance treatment ISO RGD:730894 D RGD:9068941 20200609 RGD associated with Graves Disease PMID:23257837|REF_RGD_ID:8655938 8816121 Il18 interleukin 18 gene DOID:9007730 Burns ISO RGD:730895 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:19197224|REF_RGD_ID:4889576 8816121 Il18 interleukin 18 gene DOID:9007748 Retinal Neovascularization ISO RGD:730894 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:17562991|REF_RGD_ID:8655891 8816121 Il18 interleukin 18 gene DOID:9007748 Retinal Neovascularization ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17234681|REF_RGD_ID:8655930 8816121 Il18 interleukin 18 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19805173|REF_RGD_ID:4889400 8816121 Il18 interleukin 18 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:19164288|REF_RGD_ID:4889578 8816121 Il18 interleukin 18 gene DOID:9007874 Liver Failure treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:23155311|REF_RGD_ID:8655993 8816121 Il18 interleukin 18 gene DOID:9008103 Seasonal Allergic Rhinitis no_association ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoters:multiple PMID:12532106|REF_RGD_ID:8655871 8816121 Il18 interleukin 18 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoters, exon:multiple PMID:12532106|REF_RGD_ID:8655871 8816121 Il18 interleukin 18 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-607C>A(human) PMID:27470888|REF_RGD_ID:14696663 8816121 Il18 interleukin 18 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:730894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8816121 Il18 interleukin 18 gene DOID:9008691 Liver Injury ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:24412291|REF_RGD_ID:14696652 8816121 Il18 interleukin 18 gene DOID:9008691 Liver Injury ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:21106643|REF_RGD_ID:8655972 8816121 Il18 interleukin 18 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:730894 D RGD:9068941 20200609 RGD PMID:15353983|REF_RGD_ID:8655934 8816121 Il18 interleukin 18 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) PMID:20331838|REF_RGD_ID:8655915 8816121 Il18 interleukin 18 gene DOID:9065 leishmaniasis ISO RGD:730894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16879623 8816121 Il18 interleukin 18 gene DOID:9065 leishmaniasis treatment ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:10768930|REF_RGD_ID:8655909 8816121 Il18 interleukin 18 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16879623|REF_RGD_ID:8655922 8816121 Il18 interleukin 18 gene DOID:9452 steatotic liver disease ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:19084941|REF_RGD_ID:4889416 8816121 Il18 interleukin 18 gene DOID:9675 pulmonary emphysema ISO RGD:2889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage PMID:23392573|REF_RGD_ID:8655969 8816121 Il18 interleukin 18 gene DOID:9675 pulmonary emphysema ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:17400729|REF_RGD_ID:4889590 8816121 Il18 interleukin 18 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730894 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18359638|REF_RGD_ID:8655935 8816121 Il18 interleukin 18 gene DOID:986 alopecia areata susceptibility ISO RGD:730894 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) PMID:24446726|REF_RGD_ID:8655875 8816121 Il18 interleukin 18 gene DOID:9970 obesity ISO RGD:730895 D RGD:9068941 20200609 RGD PMID:16732281|REF_RGD_ID:14695532 8816121 Il18 interleukin 18 gene DOID:9970 obesity treatment ISO RGD:2889 D RGD:9068941 20200609 RGD PMID:20490358|REF_RGD_ID:7175343 8816133 Acer2 alkaline ceramidase 2 gene DOID:630 genetic disease ISO RGD:1312176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816156 Hsf1 heat shock transcription factor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730995 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24256636 8816156 Hsf1 heat shock transcription factor 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:730995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8816156 Hsf1 heat shock transcription factor 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:730995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8816156 Hsf1 heat shock transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:620913 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum (rat) PMID:23665061|REF_RGD_ID:10402771 8816156 Hsf1 heat shock transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:730996 D RGD:9068941 20200609 RGD protein:altered localization:promoter (mouse) PMID:24849358|REF_RGD_ID:10402385 8816156 Hsf1 heat shock transcription factor 1 gene DOID:11383 cryptorchidism ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased expression:testis, spermatocyte, nucleus (rat) PMID:21480429|REF_RGD_ID:10402945 8816156 Hsf1 heat shock transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:730995 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:16051598|REF_RGD_ID:10402372 8816156 Hsf1 heat shock transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:730996 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:19443488|REF_RGD_ID:10402387 8816156 Hsf1 heat shock transcription factor 1 gene DOID:12858 Huntington's disease treatment ISO RGD:730996 D RGD:9068941 20200609 RGD PMID:24381308|REF_RGD_ID:10402386 8816156 Hsf1 heat shock transcription factor 1 gene DOID:14330 Parkinson's disease ISO RGD:620913 D RGD:9068941 20200609 RGD protein:decreased expression:midbrain (rat) PMID:24296154|REF_RGD_ID:10402753 8816156 Hsf1 heat shock transcription factor 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:24852355|REF_RGD_ID:10402545 8816156 Hsf1 heat shock transcription factor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:730995 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22885793 8816156 Hsf1 heat shock transcription factor 1 gene DOID:224 transient cerebral ischemia ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased expression:brain, nucleus (rat) PMID:26070787|REF_RGD_ID:10402389 8816156 Hsf1 heat shock transcription factor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620913 D RGD:9068941 20200609 RGD associated with Heart Arrest PMID:23528677|REF_RGD_ID:10402772 8816156 Hsf1 heat shock transcription factor 1 gene DOID:4621 holoprosencephaly ISO RGD:730995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8816156 Hsf1 heat shock transcription factor 1 gene DOID:6000 congestive heart failure ISO RGD:620913 D RGD:9068941 20200609 RGD protein:altered localization:heart left ventricle (rat) PMID:24285117|REF_RGD_ID:10402754 8816156 Hsf1 heat shock transcription factor 1 gene DOID:630 genetic disease ISO RGD:730995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816156 Hsf1 heat shock transcription factor 1 gene DOID:767 muscular atrophy treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:21983076|REF_RGD_ID:10402941 8816156 Hsf1 heat shock transcription factor 1 gene DOID:9000099 Experimental Colitis ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased acetylation:colon (rat) PMID:25608526|REF_RGD_ID:10402402 8816156 Hsf1 heat shock transcription factor 1 gene DOID:9000972 Fever ISO RGD:620913 D RGD:9068941 20200609 RGD associated with Endotoxemia;protein:altered localization:preoptic area, anterior hypothalamus, nucleus (rat) PMID:22427437|REF_RGD_ID:10402781 8816156 Hsf1 heat shock transcription factor 1 gene DOID:9002395 Hypothermia ISO RGD:620913 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland ventral lobe (rat) PMID:25996932|REF_RGD_ID:10402397 8816156 Hsf1 heat shock transcription factor 1 gene DOID:9002669 Hypoxia ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased expression:gastric mucosa (rat) PMID:22156356|REF_RGD_ID:10402813 8816156 Hsf1 heat shock transcription factor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:25804640|REF_RGD_ID:10402399 8816156 Hsf1 heat shock transcription factor 1 gene DOID:9004562 Smoke Inhalation Injury treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:23499678|REF_RGD_ID:10402773 8816156 Hsf1 heat shock transcription factor 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:23219797|REF_RGD_ID:10402774 8816156 Hsf1 heat shock transcription factor 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:620913 D RGD:9068941 20200609 RGD PMID:25571843|REF_RGD_ID:10402404 8816156 Hsf1 heat shock transcription factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620913 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:23102208|REF_RGD_ID:10402775 8816156 Hsf1 heat shock transcription factor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730996 D RGD:9068941 20200609 RGD PMID:22426029|REF_RGD_ID:10402789 8816156 Hsf1 heat shock transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730996 D RGD:9068941 20200609 RGD protein:increased expression:heart (mouse) PMID:24496227|REF_RGD_ID:10402557 8816187 Scml2 Scm polycomb group protein like 2 gene DOID:0050902 medulloblastoma ISO RGD:1352337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8816187 Scml2 Scm polycomb group protein like 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1352337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8816187 Scml2 Scm polycomb group protein like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8816187 Scml2 Scm polycomb group protein like 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1352337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 8816187 Scml2 Scm polycomb group protein like 2 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1352337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8816187 Scml2 Scm polycomb group protein like 2 gene DOID:12849 autistic disorder ISO RGD:1352337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8816187 Scml2 Scm polycomb group protein like 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1352337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8816187 Scml2 Scm polycomb group protein like 2 gene DOID:630 genetic disease ISO RGD:1352337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816187 Scml2 Scm polycomb group protein like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8816210 Vcf1 VCP nuclear cofactor family member 1 gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1602856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G PMID:25741868|PMID:28492532 8816210 Vcf1 VCP nuclear cofactor family member 1 gene DOID:630 genetic disease ISO RGD:1602856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8816217 Kntc1 kinetochore associated 1 gene DOID:10283 prostate cancer ISO RGD:1317369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8816217 Kntc1 kinetochore associated 1 gene DOID:630 genetic disease ISO RGD:1317369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816288 Llgl2 LLGL scribble cell polarity complex component 2 gene DOID:0080600 COVID-19 ISO RGD:1353110 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8816288 Llgl2 LLGL scribble cell polarity complex component 2 gene DOID:630 genetic disease ISO RGD:1353110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816288 Llgl2 LLGL scribble cell polarity complex component 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 8816288 Llgl2 LLGL scribble cell polarity complex component 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1353110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 8816327 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1603312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30021165|PMID:31616000 8816327 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures ISO RGD:1603312 D RGD:7240710 20201216 OMIM 8816327 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures ISO RGD:1603312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES | ClinVar Annotator: match by term: Intellectual developmental disorder with autistic features and language delay, with or without seizures | ClinVar Annotator: match by term: TANC2-related condition PMID:23033978|PMID:25741868|PMID:28492532|PMID:28754924|PMID:30021165|PMID:31616000 8816327 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:1059 intellectual disability ISO RGD:1603312 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25741868|PMID:28754924|PMID:30021165|PMID:31616000 8816327 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:1826 epilepsy ISO RGD:1603312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:31616000 8816327 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:5419 schizophrenia ISO RGD:1603312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:31616000 8816327 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:630 genetic disease ISO RGD:1603312 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:25741868|PMID:28518168|PMID:28754924|PMID:30021165|PMID:31616000|PMID:32461654|PMID:33875846 8816327 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:31616000 8816327 Tanc2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1603312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:31616000 8816389 Nppb natriuretic peptide B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8816389 Nppb natriuretic peptide B gene DOID:0050700 cardiomyopathy ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14745153|PMID:16127512 8816389 Nppb natriuretic peptide B gene DOID:0060224 atrial fibrillation ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15864246 8816389 Nppb natriuretic peptide B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:69139 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8816389 Nppb natriuretic peptide B gene DOID:0080322 polycystic kidney disease treatment ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:28416225|REF_RGD_ID:14701038 8816389 Nppb natriuretic peptide B gene DOID:0080600 COVID-19 disease_progression ISO RGD:69139 D RGD:9068941 20200618 RGD PMID:32293449|REF_RGD_ID:30296680 8816389 Nppb natriuretic peptide B gene DOID:0080600 COVID-19 disease_progression ISO RGD:69139 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 8816389 Nppb natriuretic peptide B gene DOID:0080600 COVID-19 severity ISO RGD:69139 D RGD:9068941 20200619 RGD PMID:32302954|PMID:32427582|PMID:32434874|REF_RGD_ID:30296677|REF_RGD_ID:30296679|REF_RGD_ID:30309200 8816389 Nppb natriuretic peptide B gene DOID:0080600 COVID-19 severity ISO RGD:69139 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 8816389 Nppb natriuretic peptide B gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:69139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 8816389 Nppb natriuretic peptide B gene DOID:1073 renal hypertension ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20139323|REF_RGD_ID:7248593 8816389 Nppb natriuretic peptide B gene DOID:1073 renal hypertension ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22188107|REF_RGD_ID:6907405 8816389 Nppb natriuretic peptide B gene DOID:1073 renal hypertension ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:plasma PMID:12697975|REF_RGD_ID:7248660 8816389 Nppb natriuretic peptide B gene DOID:10763 hypertension ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:11897768|REF_RGD_ID:70484 8816389 Nppb natriuretic peptide B gene DOID:10763 hypertension ISO RGD:69139 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19219041|PMID:24039778|PMID:30310171|PMID:32147540|PMID:9194512 8816389 Nppb natriuretic peptide B gene DOID:10763 hypertension susceptibility ISO RGD:69139 D RGD:9068941 20200609 RGD DNA:repeats PMID:17554401|REF_RGD_ID:1642191 8816389 Nppb natriuretic peptide B gene DOID:10763 hypertension treatment ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:21403100|REF_RGD_ID:5685657 8816389 Nppb natriuretic peptide B gene DOID:10825 essential hypertension ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9350073|REF_RGD_ID:7246914 8816389 Nppb natriuretic peptide B gene DOID:10923 sickle cell anemia ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20408845 8816389 Nppb natriuretic peptide B gene DOID:10923 sickle cell anemia severity ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:21689089|REF_RGD_ID:5685653 8816389 Nppb natriuretic peptide B gene DOID:11394 adult respiratory distress syndrome ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Ventilator-Induced Lung Injury;protein:increased expression:serum: PMID:23837838|REF_RGD_ID:7247620 8816389 Nppb natriuretic peptide B gene DOID:114 heart disease ISO RGD:3194 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:heart PMID:10828832|REF_RGD_ID:1642294 8816389 Nppb natriuretic peptide B gene DOID:114 heart disease ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18004637 8816389 Nppb natriuretic peptide B gene DOID:114 heart disease ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome PMID:22087201|REF_RGD_ID:5685644 8816389 Nppb natriuretic peptide B gene DOID:114 heart disease ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Renal Insufficiency,chronic;protein:increased expression:serum: PMID:22038201|REF_RGD_ID:7247634 8816389 Nppb natriuretic peptide B gene DOID:11516 hypertensive heart disease ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:21403100|REF_RGD_ID:5685657 8816389 Nppb natriuretic peptide B gene DOID:11981 morbid obesity ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17273651|REF_RGD_ID:1642195 8816389 Nppb natriuretic peptide B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:3194 D RGD:9068941 20230824 RGD mRNA:increased expression:heatt (rat) PMID:24247421|REF_RGD_ID:401793741 8816389 Nppb natriuretic peptide B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:3194 D RGD:9068941 20230831 RGD mRNA:increased expression:heart (rat) PMID:19889059|REF_RGD_ID:401794453 8816389 Nppb natriuretic peptide B gene DOID:1287 cardiovascular system disease ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19220183 8816389 Nppb natriuretic peptide B gene DOID:12930 dilated cardiomyopathy ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16762803|PMID:18628775 8816389 Nppb natriuretic peptide B gene DOID:12930 dilated cardiomyopathy ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18068619|REF_RGD_ID:2324684 8816389 Nppb natriuretic peptide B gene DOID:12930 dilated cardiomyopathy ameliorates ISO RGD:69139 D RGD:9068941 20230415 RGD mRNA,protein:increased expression:heart (human) PMID:24275554|REF_RGD_ID:11252017 8816389 Nppb natriuretic peptide B gene DOID:13378 Kawasaki disease ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21410593|REF_RGD_ID:5685654 8816389 Nppb natriuretic peptide B gene DOID:1682 congenital heart disease ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16014188 8816389 Nppb natriuretic peptide B gene DOID:1936 atherosclerosis ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, chronic;protein:increased expression:blood: PMID:22863432|REF_RGD_ID:7247628 8816389 Nppb natriuretic peptide B gene DOID:1936 atherosclerosis susceptibility ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Hypertension,Renal; DNA:SNP:promoter: -381 T>C,rs198389 (human) PMID:19413180|REF_RGD_ID:7248594 8816389 Nppb natriuretic peptide B gene DOID:2527 nephrosis ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8289999|REF_RGD_ID:7247315 8816389 Nppb natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:3194 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:22209992|REF_RGD_ID:7247715 8816389 Nppb natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:increased expression:serum: PMID:23192919|REF_RGD_ID:7247624 8816389 Nppb natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Pneumonia;protein:increased expression:serum: PMID:23415693|REF_RGD_ID:7247622 8816389 Nppb natriuretic peptide B gene DOID:3021 acute kidney failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with lung diseases;protein:increased expression:serum: PMID:23837838|REF_RGD_ID:7247620 8816389 Nppb natriuretic peptide B gene DOID:3393 coronary artery disease ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18022110 8816389 Nppb natriuretic peptide B gene DOID:4500 hypokalemia ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20339970 8816389 Nppb natriuretic peptide B gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:11004 D RGD:9068941 20200609 RGD PMID:11729234|REF_RGD_ID:7248605 8816389 Nppb natriuretic peptide B gene DOID:5082 liver cirrhosis ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9350073|REF_RGD_ID:7246914 8816389 Nppb natriuretic peptide B gene DOID:5082 liver cirrhosis severity ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23940514|REF_RGD_ID:7248670 8816389 Nppb natriuretic peptide B gene DOID:5199 ureteral obstruction ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 8816389 Nppb natriuretic peptide B gene DOID:57 aortic valve insufficiency ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 8816389 Nppb natriuretic peptide B gene DOID:576 proteinuria ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:26063669|REF_RGD_ID:12910116 8816389 Nppb natriuretic peptide B gene DOID:5844 myocardial infarction ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:17256064|PMID:19858735|REF_RGD_ID:1642266|REF_RGD_ID:2324680 8816389 Nppb natriuretic peptide B gene DOID:5844 myocardial infarction ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:17639095|REF_RGD_ID:7247724 8816389 Nppb natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:1831369|REF_RGD_ID:7247316 8816389 Nppb natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11136700|PMID:11279304|PMID:12628948|PMID:15732037|PMID:15860969|PMID:16101196|PMID:16333235|PMID:16360360|PMID:16762801|PMID:16777915|PMID:19650993|PMID:24535859|PMID:29959987 8816389 Nppb natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:plasma PMID:17257273|REF_RGD_ID:1642196 8816389 Nppb natriuretic peptide B gene DOID:6000 congestive heart failure ISO RGD:69139 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart,plasma PMID:11421854|REF_RGD_ID:1580139 8816389 Nppb natriuretic peptide B gene DOID:6000 congestive heart failure severity ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2143809|REF_RGD_ID:1580140 8816389 Nppb natriuretic peptide B gene DOID:630 genetic disease ISO RGD:69139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816389 Nppb natriuretic peptide B gene DOID:6364 migraine ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22165670|REF_RGD_ID:5685652 8816389 Nppb natriuretic peptide B gene DOID:6432 pulmonary hypertension ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16936438|REF_RGD_ID:1642203 8816389 Nppb natriuretic peptide B gene DOID:6432 pulmonary hypertension ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20408845|PMID:21351102 8816389 Nppb natriuretic peptide B gene DOID:6432 pulmonary hypertension severity ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16893710|REF_RGD_ID:1642205 8816389 Nppb natriuretic peptide B gene DOID:783 end stage renal disease ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:7606877|REF_RGD_ID:7246912 8816389 Nppb natriuretic peptide B gene DOID:784 chronic kidney disease disease_progression ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:23725445|REF_RGD_ID:7246908 8816389 Nppb natriuretic peptide B gene DOID:9000543 Death ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:17296640|REF_RGD_ID:1642194 8816389 Nppb natriuretic peptide B gene DOID:9000590 Dyspnea ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20339970 8816389 Nppb natriuretic peptide B gene DOID:9000641 Pain ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27687165 8816389 Nppb natriuretic peptide B gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16014188|PMID:19650993 8816389 Nppb natriuretic peptide B gene DOID:9000790 Postoperative Complications ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23019395 8816389 Nppb natriuretic peptide B gene DOID:9000998 Brain Injuries ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19803787 8816389 Nppb natriuretic peptide B gene DOID:9000998 Brain Injuries ISO RGD:69139 D RGD:9068941 20200609 RGD associated with lung diseases;protein:increased expression:serum: PMID:23837838|REF_RGD_ID:7247620 8816389 Nppb natriuretic peptide B gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:3194 D RGD:9068941 20200609 RGD associated with Renal Insufficiency; protein:increased expression:blood: PMID:22071162|REF_RGD_ID:7247632 8816389 Nppb natriuretic peptide B gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16689991 8816389 Nppb natriuretic peptide B gene DOID:9002097 High Cardiac Output ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20339970 8816389 Nppb natriuretic peptide B gene DOID:9002165 Diabetic Nephropathies ISO RGD:11004 D RGD:9068941 20200609 RGD PMID:16917760|REF_RGD_ID:7248603 8816389 Nppb natriuretic peptide B gene DOID:9002165 Diabetic Nephropathies ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:10404802|REF_RGD_ID:7247731 8816389 Nppb natriuretic peptide B gene DOID:9002371 Cardiotoxicity ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29959987 8816389 Nppb natriuretic peptide B gene DOID:9002676 Cerebral Hemorrhage ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19803787 8816389 Nppb natriuretic peptide B gene DOID:9003234 Hypertensive Nephropathy ISO RGD:3194 D RGD:9068941 20201211 RGD PMID:26063669|REF_RGD_ID:12910116 8816389 Nppb natriuretic peptide B gene DOID:9003936 Cardiomegaly ISO RGD:11004 D RGD:9068941 20240104 RGD mRNA:decreased expression:heart (mouse) PMID:21273244|REF_RGD_ID:401940178 8816389 Nppb natriuretic peptide B gene DOID:9003936 Cardiomegaly ISO RGD:3194 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart PMID:16762434|REF_RGD_ID:1642206 8816389 Nppb natriuretic peptide B gene DOID:9003936 Cardiomegaly ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15942707|PMID:15969258|PMID:18056528|PMID:21565836 8816389 Nppb natriuretic peptide B gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:11004 D RGD:9068941 20230415 RGD PMID:24275554|REF_RGD_ID:11252017 8816389 Nppb natriuretic peptide B gene DOID:9003936 Cardiomegaly treatment ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:23905381|REF_RGD_ID:7297051 8816389 Nppb natriuretic peptide B gene DOID:9004363 Eisenmenger Complex disease_progression ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:22397941|REF_RGD_ID:7247629 8816389 Nppb natriuretic peptide B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3194 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:16272201|REF_RGD_ID:1580154 8816389 Nppb natriuretic peptide B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17118955|REF_RGD_ID:1642202 8816389 Nppb natriuretic peptide B gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:3194 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:24013683|REF_RGD_ID:7297044 8816389 Nppb natriuretic peptide B gene DOID:9005141 Ventricular Tachycardia ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20339970 8816389 Nppb natriuretic peptide B gene DOID:9005372 Inflammation ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19803787 8816389 Nppb natriuretic peptide B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:atrium myocardium, plasma PMID:17151299|REF_RGD_ID:1642199 8816389 Nppb natriuretic peptide B gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Heart Failure PMID:20438292|REF_RGD_ID:7248591 8816389 Nppb natriuretic peptide B gene DOID:9006024 Hypotension ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20339970|PMID:9194512 8816389 Nppb natriuretic peptide B gene DOID:9006205 Animal Disease Models ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8816389 Nppb natriuretic peptide B gene DOID:9006635 Hyponatremia ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:21808206|REF_RGD_ID:5685651 8816389 Nppb natriuretic peptide B gene DOID:9007174 Ventricular Remodeling ISO RGD:69139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8816389 Nppb natriuretic peptide B gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:11004 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 8816389 Nppb natriuretic peptide B gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:69139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8816389 Nppb natriuretic peptide B gene DOID:9007639 Metabolic Side Effects of Drugs and Substances ISO RGD:3194 D RGD:9068941 20231116 RGD Associated with incense smoke exposure;mRNA:increased expression:heart (rat) PMID:25687613|REF_RGD_ID:401900684 8816389 Nppb natriuretic peptide B gene DOID:9007692 Insulin Resistance ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Obesity and Hypertension;protein:decreased expression:serum PMID:17392814|REF_RGD_ID:1642192 8816389 Nppb natriuretic peptide B gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3194 D RGD:9068941 20200609 RGD PMID:21168723|REF_RGD_ID:5685663 8816389 Nppb natriuretic peptide B gene DOID:9008830 Vasovagal Syncope ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Syncope;protein:increased expression:serum: PMID:23373852|REF_RGD_ID:7247623 8816389 Nppb natriuretic peptide B gene DOID:9279 hyperhomocysteinemia ISO RGD:3194 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart, plasma PMID:17303690|REF_RGD_ID:1642265 8816389 Nppb natriuretic peptide B gene DOID:9351 diabetes mellitus onset ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:23733199|REF_RGD_ID:7246907 8816389 Nppb natriuretic peptide B gene DOID:9352 type 2 diabetes mellitus ISO RGD:3194 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18192848|REF_RGD_ID:2293330 8816389 Nppb natriuretic peptide B gene DOID:9352 type 2 diabetes mellitus ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22037102|REF_RGD_ID:5685645 8816389 Nppb natriuretic peptide B gene DOID:9477 pulmonary embolism disease_progression ISO RGD:69139 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23562569|REF_RGD_ID:7247621 8816389 Nppb natriuretic peptide B gene DOID:9651 systolic heart failure ISO RGD:69139 D RGD:9068941 20200609 RGD PMID:23122795|REF_RGD_ID:7247627 8816389 Nppb natriuretic peptide B gene DOID:9651 systolic heart failure ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Renal Insufficiency;protein:increased expression:plasma: PMID:23725445|REF_RGD_ID:7246908 8816389 Nppb natriuretic peptide B gene DOID:9970 obesity ISO RGD:3194 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:24009719|REF_RGD_ID:7327171 8816389 Nppb natriuretic peptide B gene DOID:9970 obesity ISO RGD:69139 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21959345|REF_RGD_ID:5685647 8816389 Nppb natriuretic peptide B gene DOID:9970 obesity treatment ISO RGD:3194 D RGD:9068941 20230720 RGD associated with hypoxia; protein:increased expression:blood serum (rat) PMID:33310031|REF_RGD_ID:329955450 8816396 Nxpe3 neurexophilin and PC-esterase domain family member 3 gene DOID:630 genetic disease ISO RGD:1348429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816421 Mat2b methionine adenosyltransferase 2 non-catalytic beta subunit gene DOID:630 genetic disease ISO RGD:1606800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816439 Fbxo10 F-box protein 10 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8816439 Fbxo10 F-box protein 10 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8816439 Fbxo10 F-box protein 10 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8816439 Fbxo10 F-box protein 10 gene DOID:630 genetic disease ISO RGD:1313507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816439 Fbxo10 F-box protein 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1305465 D RGD:9068941 20200609 RGD PMID:17404222|REF_RGD_ID:1601189 8816439 Fbxo10 F-box protein 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313507 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8816439 Fbxo10 F-box protein 10 gene DOID:9870 galactosemia ISO RGD:1313507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8816470 Cep192 centrosomal protein 192 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1605669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8816470 Cep192 centrosomal protein 192 gene DOID:1059 intellectual disability ISO RGD:1605669 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8816470 Cep192 centrosomal protein 192 gene DOID:630 genetic disease ISO RGD:1605669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816520 Akap10 A-kinase anchoring protein 10 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:70080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8816520 Akap10 A-kinase anchoring protein 10 gene DOID:12849 autistic disorder ISO RGD:70080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8816520 Akap10 A-kinase anchoring protein 10 gene DOID:630 genetic disease ISO RGD:70080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816520 Akap10 A-kinase anchoring protein 10 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:70080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 8816520 Akap10 A-kinase anchoring protein 10 gene DOID:9003163 Heart Block ISO RGD:70080 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 8816520 Akap10 A-kinase anchoring protein 10 gene DOID:9007 sudden infant death syndrome ISO RGD:70080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 8816544 Git1 GIT ArfGAP 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:732720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8816544 Git1 GIT ArfGAP 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:732720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499268 8816544 Git1 GIT ArfGAP 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:732720 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:21499268|REF_RGD_ID:11344918 8816544 Git1 GIT ArfGAP 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737425 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 8816544 Git1 GIT ArfGAP 1 gene DOID:12858 Huntington's disease ISO RGD:732720 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:15383276|REF_RGD_ID:1549448 8816544 Git1 GIT ArfGAP 1 gene DOID:630 genetic disease ISO RGD:732720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816544 Git1 GIT ArfGAP 1 gene DOID:9002362 Hyperkinesis ISO RGD:732720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499268 8816544 Git1 GIT ArfGAP 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100775 8816544 Git1 GIT ArfGAP 1 gene DOID:9008023 Memory Disorders ISO RGD:732720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499268 8816544 Git1 GIT ArfGAP 1 gene DOID:9008582 Developmental Disease ISO RGD:732720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8816568 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8816568 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8816568 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:0060456 Schnyder corneal dystrophy ISO RGD:1603400 D RGD:7240710 20180130 OMIM 8816568 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:0060456 Schnyder corneal dystrophy ISO RGD:1603400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy PMID:15034782|PMID:17668063|PMID:17962451|PMID:18176953|PMID:20505825|PMID:23169578|PMID:23564352|PMID:25741868|PMID:28492532|PMID:3486394|PMID:8190477|PMID:9450854 8816568 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1603400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816568 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:9002860 Cardiac Edema ISO RGD:1603400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23533172 8816568 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1603400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23533172 8816568 Ubiad1 UbiA prenyltransferase domain containing 1 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1603400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8816574 Rpl3l ribosomal protein L3 like gene DOID:0050700 cardiomyopathy ISO RGD:1314865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:32514796|PMID:32870709 8816574 Rpl3l ribosomal protein L3 like gene DOID:0060224 atrial fibrillation ISO RGD:1314865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8816574 Rpl3l ribosomal protein L3 like gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8816574 Rpl3l ribosomal protein L3 like gene DOID:0081160 dilated cardiomyopathy 2D ISO RGD:1314865 D RGD:7240710 20210616 OMIM 8816574 Rpl3l ribosomal protein L3 like gene DOID:0081160 dilated cardiomyopathy 2D ISO RGD:1314865 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2D PMID:25741868|PMID:32514796|PMID:32870709|PMID:35323613|PMID:37308880 8816574 Rpl3l ribosomal protein L3 like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8816574 Rpl3l ribosomal protein L3 like gene DOID:1826 epilepsy ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8816574 Rpl3l ribosomal protein L3 like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8816574 Rpl3l ribosomal protein L3 like gene DOID:630 genetic disease ISO RGD:1314865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816574 Rpl3l ribosomal protein L3 like gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8816594 Rasgrp4 RAS guanyl releasing protein 4 gene DOID:630 genetic disease ISO RGD:733193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816627 Tm2d1 TM2 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1602315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8816627 Tm2d1 TM2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816637 Kiaa1755 KIAA1755 ortholog gene DOID:10283 prostate cancer ISO RGD:2289756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8816637 Kiaa1755 KIAA1755 ortholog gene DOID:2234 focal epilepsy ISO RGD:2289756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8816637 Kiaa1755 KIAA1755 ortholog gene DOID:630 genetic disease ISO RGD:2289756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816657 Smim12 small integral membrane protein 12 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8816657 Smim12 small integral membrane protein 12 gene DOID:630 genetic disease ISO RGD:1606189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816666 Xrn1 5'-3' exoribonuclease 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348971 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1883+365T>C (rs1351965) (human) PMID:22984654|REF_RGD_ID:11528589 8816666 Xrn1 5'-3' exoribonuclease 1 gene DOID:630 genetic disease ISO RGD:1348971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816666 Xrn1 5'-3' exoribonuclease 1 gene DOID:9008885 Staphylococcal Infections susceptibility ISO RGD:1348971 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2339+1477G>A (rs7643377) (human) PMID:24847357|REF_RGD_ID:11530009 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:0050888 syndromic intellectual disability ISO RGD:731783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:0080855 Parkinsonism ISO RGD:620351 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:18805403|REF_RGD_ID:10401814 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:10652 Alzheimer's disease treatment ISO RGD:1618666 D RGD:9068941 20200609 RGD PMID:18410522|PMID:22623685|REF_RGD_ID:10401797|REF_RGD_ID:10401801 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:731783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28701297 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:1342 congenital hypoplastic anemia ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:1596 depressive disorder ISO RGD:731783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357757 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:2340 craniosynostosis ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:26097063|PMID:28492532|PMID:28808027 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:3312 bipolar disorder ISO RGD:731783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20357757 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731783 D RGD:9068941 20200609 RGD PMID:12675919|REF_RGD_ID:2301741 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:5419 schizophrenia ISO RGD:731783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:630 genetic disease ISO RGD:731783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:9003816 Macrocephaly ISO RGD:731783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1618666 D RGD:9068941 20200609 RGD PMID:17855351|REF_RGD_ID:10401823 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620351 D RGD:9068941 20200609 RGD PMID:8526919|REF_RGD_ID:10401824 8816741 Gsk3a glycogen synthase kinase 3 alpha gene DOID:9269 maple syrup urine disease ISO RGD:731783 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8816756 Tmem200a transmembrane protein 200A gene DOID:630 genetic disease ISO RGD:1345256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816765 Ska1 spindle and kinetochore associated complex subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1321886 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8816765 Ska1 spindle and kinetochore associated complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1321886 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8816765 Ska1 spindle and kinetochore associated complex subunit 1 gene DOID:630 genetic disease ISO RGD:1321886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816765 Ska1 spindle and kinetochore associated complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8816792 Rbm12b RNA binding motif protein 12B gene DOID:2661 myoepithelioma ISO RGD:1602033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8816792 Rbm12b RNA binding motif protein 12B gene DOID:630 genetic disease ISO RGD:1602033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816820 Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1603939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 8816820 Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8816820 Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:1826 epilepsy ISO RGD:1603939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8816820 Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8816820 Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 gene DOID:630 genetic disease ISO RGD:1603939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816859 Cwc22 CWC22 spliceosome associated protein homolog gene DOID:630 genetic disease ISO RGD:1605651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816883 Epb41 erythrocyte membrane protein band 4.1 gene DOID:1909 melanoma ISO RGD:1605128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 8816883 Epb41 erythrocyte membrane protein band 4.1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1605128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary elliptocytosis 8816883 Epb41 erythrocyte membrane protein band 4.1 gene DOID:583 hemolytic anemia ISO RGD:1557540 D RGD:9068941 20200609 RGD PMID:9927493|REF_RGD_ID:11252099 8816883 Epb41 erythrocyte membrane protein band 4.1 gene DOID:630 genetic disease ISO RGD:1605128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8816883 Epb41 erythrocyte membrane protein band 4.1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1557540 D RGD:9068941 20200609 RGD PMID:9822582|REF_RGD_ID:11252098 8816883 Epb41 erythrocyte membrane protein band 4.1 gene DOID:9005732 Elliptocytosis 1 ISO RGD:1605128 D RGD:7240710 20180130 OMIM 8816883 Epb41 erythrocyte membrane protein band 4.1 gene DOID:9005732 Elliptocytosis 1 ISO RGD:1605128 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Elliptocytosis 1 PMID:1430200|PMID:21839655|PMID:2384597|PMID:2384598|PMID:25741868|PMID:27551681|PMID:27667160|PMID:28492532|PMID:3134067|PMID:3194408|PMID:33942936|PMID:3722387|PMID:3965051|PMID:6894932|PMID:7255153|PMID:7627190|PMID:8423235 8816927 Dynlrb1 dynein light chain roadblock-type 1 gene DOID:2843 long QT syndrome ISO RGD:734301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8816927 Dynlrb1 dynein light chain roadblock-type 1 gene DOID:630 genetic disease ISO RGD:734301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816927 Dynlrb1 dynein light chain roadblock-type 1 gene DOID:684 hepatocellular carcinoma ISO RGD:734301 D RGD:9068941 20200609 RGD PMID:11750132|REF_RGD_ID:13208527 8816942 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:12858 Huntington's disease ISO RGD:71071 D RGD:9068941 20200609 RGD PMID:2527078|REF_RGD_ID:13524507 8816942 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:1936 atherosclerosis treatment ISO RGD:731776 D RGD:9068941 20230413 RGD Ldlr knockout mouse PMID:31589306|REF_RGD_ID:243065123 8816942 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:3883 Lynch syndrome ISO RGD:731775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8816942 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:5419 schizophrenia ISO RGD:731775 D RGD:9068941 20200609 RGD protein:decreased activity:brain: PMID:21036897|REF_RGD_ID:13513905 8816942 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:630 genetic disease ISO RGD:731775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816942 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:731776 D RGD:9068941 20230413 RGD Ldlr knockout mouse PMID:31589306|REF_RGD_ID:243065123 8816942 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:9005044 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ISO RGD:731775 D RGD:7240710 20190315 OMIM 8816942 Haao 3-hydroxyanthranilate 3,4-dioxygenase gene DOID:9005044 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ISO RGD:731775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1 PMID:25741868|PMID:28792876|PMID:33942433 8816960 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1343459 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 8816960 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1343459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:32403198 8816960 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1343459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8816960 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:630 genetic disease ISO RGD:1343459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816960 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:9006229 MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME ISO RGD:1343459 D RGD:7240710 20211027 OMIM 8816960 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:9006229 MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME ISO RGD:1343459 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome PMID:25741868|PMID:32403198|PMID:35869884 8816960 Ggps1 geranylgeranyl diphosphate synthase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8816970 Znf638 zinc finger protein 638 gene DOID:543 dystonia ISO RGD:1349975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8816970 Znf638 zinc finger protein 638 gene DOID:630 genetic disease ISO RGD:1349975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8816970 Znf638 zinc finger protein 638 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8817000 Ube2f ubiquitin conjugating enzyme E2 F (putative) gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1350782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8817000 Ube2f ubiquitin conjugating enzyme E2 F (putative) gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1350782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8817000 Ube2f ubiquitin conjugating enzyme E2 F (putative) gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1350782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8817000 Ube2f ubiquitin conjugating enzyme E2 F (putative) gene DOID:1059 intellectual disability ISO RGD:1350782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8817000 Ube2f ubiquitin conjugating enzyme E2 F (putative) gene DOID:630 genetic disease ISO RGD:1350782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817000 Ube2f ubiquitin conjugating enzyme E2 F (putative) gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1350782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8817020 Nek7 NIMA related kinase 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1322471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8817020 Nek7 NIMA related kinase 7 gene DOID:630 genetic disease ISO RGD:1322471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817020 Nek7 NIMA related kinase 7 gene DOID:9004657 Weight Gain ISO RGD:1322471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8817020 Nek7 NIMA related kinase 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8817033 Bbs5 Bardet-Biedl syndrome 5 gene DOID:0050795 cone dystrophy ISO RGD:1321789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:15137946|PMID:17576681|PMID:20498079|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31506453|PMID:9536098 8817033 Bbs5 Bardet-Biedl syndrome 5 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1321789 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:15137946|PMID:16199547|PMID:16877420|PMID:21209035|PMID:25741868|PMID:26325687|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606 8817033 Bbs5 Bardet-Biedl syndrome 5 gene DOID:0110127 Bardet-Biedl syndrome 5 ISO RGD:1321789 D RGD:7240710 20180130 OMIM 8817033 Bbs5 Bardet-Biedl syndrome 5 gene DOID:0110127 Bardet-Biedl syndrome 5 ISO RGD:1321789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: BBS5-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 5 PMID:11342895|PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:18203199|PMID:19367329|PMID:21052717|PMID:21209035|PMID:22626039|PMID:25741868|PMID:26325687|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30718709|PMID:31760295|PMID:32451492|PMID:32641690|PMID:33572860|PMID:9536098 8817033 Bbs5 Bardet-Biedl syndrome 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321789 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:18203199|PMID:19367329|PMID:19797195|PMID:20498079|PMID:21052717|PMID:21209035|PMID:21344540|PMID:22626039|PMID:22773737|PMID:24400638|PMID:24559376|PMID:25741868|PMID:25982971|PMID:26325687|PMID:26355662|PMID:26766544|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30029678|PMID:30614526|PMID:30718709|PMID:31506453|PMID:31760295|PMID:32451492|PMID:32641690|PMID:32811249|PMID:33572860|PMID:37240074|PMID:37431782|PMID:9536098 8817033 Bbs5 Bardet-Biedl syndrome 5 gene DOID:630 genetic disease ISO RGD:1321789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8817033 Bbs5 Bardet-Biedl syndrome 5 gene DOID:8501 fundus dystrophy ISO RGD:1321789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15137946|PMID:16199547|PMID:16877420|PMID:21209035|PMID:25741868|PMID:26325687|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606 8817050 Sin3b SIN3 transcription regulator family member B gene DOID:630 genetic disease ISO RGD:1348412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8817072 Rsu1 Ras suppressor protein 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8817072 Rsu1 Ras suppressor protein 1 gene DOID:11476 osteoporosis ISO RGD:1313402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8817072 Rsu1 Ras suppressor protein 1 gene DOID:630 genetic disease ISO RGD:1313402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817072 Rsu1 Ras suppressor protein 1 gene DOID:9001341 Chloracne ISO RGD:1313402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8817094 Epx eosinophil peroxidase gene DOID:0110980 Joubert syndrome 1 ISO RGD:1323569 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8817094 Epx eosinophil peroxidase gene DOID:1059 intellectual disability ISO RGD:1323569 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8817094 Epx eosinophil peroxidase gene DOID:2841 asthma ISO RGD:1323569 D RGD:9068941 20200609 RGD protein:increased activity:sputum,nasal,pharyngeal mucosa PMID:26645423|REF_RGD_ID:11574908 8817094 Epx eosinophil peroxidase gene DOID:2841 asthma disease_progression ISO RGD:1323569 D RGD:9068941 20200609 RGD PMID:20813885|REF_RGD_ID:13506891 8817094 Epx eosinophil peroxidase gene DOID:2841 asthma severity ISO RGD:1323569 D RGD:9068941 20200609 RGD PMID:12199967|REF_RGD_ID:13506892 8817094 Epx eosinophil peroxidase gene DOID:630 genetic disease ISO RGD:1323569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817094 Epx eosinophil peroxidase gene DOID:9000406 Eosinophilic Asthma treatment ISO RGD:1323569 D RGD:9068941 20200609 RGD PMID:28751233|REF_RGD_ID:13506890 8817094 Epx eosinophil peroxidase gene DOID:9006769 Presentey Anomaly ISO RGD:1323569 D RGD:7240710 20180130 OMIM 8817094 Epx eosinophil peroxidase gene DOID:9006769 Presentey Anomaly ISO RGD:1323569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Eosinophil peroxidase deficiency PMID:11241847|PMID:25741868|PMID:28492532|PMID:7809065 8817094 Epx eosinophil peroxidase gene DOID:9415 allergic asthma ISO RGD:1323569 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:11846868|REF_RGD_ID:13506893 8817120 Micu3 mitochondrial calcium uptake family member 3 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1344142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8817120 Micu3 mitochondrial calcium uptake family member 3 gene DOID:630 genetic disease ISO RGD:1344142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817138 Ctps1 CTP synthase 1 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1322315 D RGD:9068941 20200609 RGD mRNA:increased expression:biliary tract neoplasm (human) PMID:12819026|REF_RGD_ID:2317903 8817138 Ctps1 CTP synthase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8817138 Ctps1 CTP synthase 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1322315 D RGD:7240710 20180130 OMIM 8817138 Ctps1 CTP synthase 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1322315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:16199547|PMID:17576681|PMID:24033266|PMID:24870241|PMID:25741868|PMID:27638562|PMID:28492532|PMID:30899265|PMID:32161190|PMID:9536098 8817138 Ctps1 CTP synthase 1 gene DOID:630 genetic disease ISO RGD:1322315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8817138 Ctps1 CTP synthase 1 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1322315 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:19302751|REF_RGD_ID:5132859 8817169 Ttyh2 tweety family member 2 gene DOID:630 genetic disease ISO RGD:1354269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817193 Lrig1 leucine rich repeats and immunoglobulin like domains 1 gene DOID:0060224 atrial fibrillation ISO RGD:1315602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8817193 Lrig1 leucine rich repeats and immunoglobulin like domains 1 gene DOID:630 genetic disease ISO RGD:1315602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817217 Sacm1l SAC1 like phosphatidylinositide phosphatase gene DOID:630 genetic disease ISO RGD:733012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817217 Sacm1l SAC1 like phosphatidylinositide phosphatase gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:733012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1320669 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:11978605|PMID:12468279|PMID:15108290|PMID:20301745|PMID:25741868|PMID:28492532 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:1320669 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0060037 developmental disorder of mental health ISO RGD:1320669 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1320669 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0080600 COVID-19 ISO RGD:1320669 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1320669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0112093 nuclear type mitochondrial complex I deficiency 3 ISO RGD:1320669 D RGD:7240710 20190315 OMIM 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:0112093 nuclear type mitochondrial complex I deficiency 3 ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 PMID:10330338|PMID:10360771|PMID:11004438|PMID:15269216|PMID:17275378|PMID:17604671|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:1059 intellectual disability ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:3312 bipolar disorder ISO RGD:1320669 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:20368511|REF_RGD_ID:6484696 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:3652 Leigh disease ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10330338|PMID:10360771|PMID:11004438|PMID:11978605|PMID:12468279|PMID:15269216|PMID:17604671|PMID:20301745|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:5339 cyclic hematopoiesis ISO RGD:1320669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:630 genetic disease ISO RGD:1320669 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 8817241 Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1320669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10330338|PMID:10360771|PMID:11004438|PMID:11978605|PMID:12468279|PMID:15269216|PMID:17604671|PMID:20301745|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941 8817253 Klhl20 kelch like family member 20 gene DOID:10283 prostate cancer ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8817253 Klhl20 kelch like family member 20 gene DOID:1059 intellectual disability ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8817253 Klhl20 kelch like family member 20 gene DOID:1540 parathyroid carcinoma ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8817253 Klhl20 kelch like family member 20 gene DOID:3755 antithrombin III deficiency ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8817253 Klhl20 kelch like family member 20 gene DOID:630 genetic disease ISO RGD:1343100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817253 Klhl20 kelch like family member 20 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8817253 Klhl20 kelch like family member 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8817253 Klhl20 kelch like family member 20 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8817253 Klhl20 kelch like family member 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8817271 Slc51b SLC51 subunit beta gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 8817271 Slc51b SLC51 subunit beta gene DOID:12236 primary biliary cholangitis ISO RGD:1604245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920 8817271 Slc51b SLC51 subunit beta gene DOID:13250 diarrhea ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:25741868|PMID:28898457 8817271 Slc51b SLC51 subunit beta gene DOID:13580 cholestasis ISO RGD:1604245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16423920|PMID:22461449 8817271 Slc51b SLC51 subunit beta gene DOID:1561 cognitive disorder ISO RGD:1604245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 8817271 Slc51b SLC51 subunit beta gene DOID:2717 Bloom syndrome ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8817271 Slc51b SLC51 subunit beta gene DOID:630 genetic disease ISO RGD:1604245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8817271 Slc51b SLC51 subunit beta gene DOID:9002010 Primary Bile Acid Malabsorption 2 ISO RGD:1604245 D RGD:7240710 20210825 OMIM 8817271 Slc51b SLC51 subunit beta gene DOID:9002010 Primary Bile Acid Malabsorption 2 ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 PMID:25741868|PMID:28898457 8817271 Slc51b SLC51 subunit beta gene DOID:9002661 Diabetes Complications ISO RGD:1604245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 8817271 Slc51b SLC51 subunit beta gene DOID:9256 colorectal cancer ISO RGD:1604245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8817279 Spout1 SPOUT domain containing methyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343592 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8817279 Spout1 SPOUT domain containing methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1343592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817295 Pidd1 p53-induced death domain protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8817295 Pidd1 p53-induced death domain protein 1 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1323429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8817295 Pidd1 p53-induced death domain protein 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1323429 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8817295 Pidd1 p53-induced death domain protein 1 gene DOID:0081234 autosomal recessive intellectual developmental disorder 75 ISO RGD:1323429 D RGD:7240710 20220427 OMIM 8817295 Pidd1 p53-induced death domain protein 1 gene DOID:0081234 autosomal recessive intellectual developmental disorder 75 ISO RGD:1323429 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | ClinVar Annotator: match by term: PIDD1-associated neurodevelopmental disorder PMID:16199547|PMID:25741868|PMID:28397838|PMID:28492532|PMID:29302074|PMID:33414379|PMID:34163010 8817295 Pidd1 p53-induced death domain protein 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8817295 Pidd1 p53-induced death domain protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8817295 Pidd1 p53-induced death domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1323429 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28397838|PMID:33414379 8817295 Pidd1 p53-induced death domain protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8817295 Pidd1 p53-induced death domain protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1323429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208132 8817295 Pidd1 p53-induced death domain protein 1 gene DOID:630 genetic disease ISO RGD:1323429 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8817295 Pidd1 p53-induced death domain protein 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1323429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8817316 Bcl2l12 BCL2 like 12 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1606211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8817316 Bcl2l12 BCL2 like 12 gene DOID:1909 melanoma ISO RGD:1606211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 8817316 Bcl2l12 BCL2 like 12 gene DOID:630 genetic disease ISO RGD:1606211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817316 Bcl2l12 BCL2 like 12 gene DOID:8923 skin melanoma ISO RGD:1606211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 8817344 Rtn4rl1 reticulon 4 receptor like 1 gene DOID:630 genetic disease ISO RGD:1348623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817367 Nlrp6 NLR family pyrin domain containing 6 gene DOID:0111969 immunodeficiency 39 ISO RGD:1350327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8817367 Nlrp6 NLR family pyrin domain containing 6 gene DOID:630 genetic disease ISO RGD:1350327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817383 Rsph9 radial spoke head component 9 gene DOID:0050444 infantile Refsum disease ISO RGD:1321745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8817383 Rsph9 radial spoke head component 9 gene DOID:0110601 primary ciliary dyskinesia 12 ISO RGD:1321745 D RGD:7240710 20180130 OMIM 8817383 Rsph9 radial spoke head component 9 gene DOID:0110601 primary ciliary dyskinesia 12 ISO RGD:1321745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 PMID:19200523|PMID:23993197|PMID:24033266|PMID:25741868|PMID:28492532 8817383 Rsph9 radial spoke head component 9 gene DOID:630 genetic disease ISO RGD:1321745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8817383 Rsph9 radial spoke head component 9 gene DOID:905 Zellweger syndrome ISO RGD:1321745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8817383 Rsph9 radial spoke head component 9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321745 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:19200523|PMID:22384920|PMID:23993197|PMID:24033266|PMID:24307375|PMID:25741868|PMID:25789548|PMID:28492532|PMID:30067075 8817392 Tubgcp6 tubulin gamma complex component 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8817392 Tubgcp6 tubulin gamma complex component 6 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1317114 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8817392 Tubgcp6 tubulin gamma complex component 6 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1317114 D RGD:7240710 20180130 OMIM 8817392 Tubgcp6 tubulin gamma complex component 6 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1317114 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 PMID:17576681|PMID:22279524|PMID:25344692|PMID:25741868|PMID:28492532|PMID:31077665|PMID:36307859|PMID:5936364|PMID:9536098 8817392 Tubgcp6 tubulin gamma complex component 6 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8817392 Tubgcp6 tubulin gamma complex component 6 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8817392 Tubgcp6 tubulin gamma complex component 6 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1317114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8817392 Tubgcp6 tubulin gamma complex component 6 gene DOID:1059 intellectual disability ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8817392 Tubgcp6 tubulin gamma complex component 6 gene DOID:10907 microcephaly ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8817392 Tubgcp6 tubulin gamma complex component 6 gene DOID:630 genetic disease ISO RGD:1317114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27660388|PMID:28492532 8817392 Tubgcp6 tubulin gamma complex component 6 gene DOID:9005482 Microcephaly and Chorioretinopathy ISO RGD:1317114 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability PMID:25344692|PMID:25741868|PMID:28492532 8817444 Stxbp3 syntaxin binding protein 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:732509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8817444 Stxbp3 syntaxin binding protein 3 gene DOID:12849 autistic disorder ISO RGD:732509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8817444 Stxbp3 syntaxin binding protein 3 gene DOID:630 genetic disease ISO RGD:732509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817467 LOC102021128 olfactory receptor 2T1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1353113 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8817467 LOC102021128 olfactory receptor 2T1 gene DOID:10283 prostate cancer ISO RGD:1353113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8817467 LOC102021128 olfactory receptor 2T1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8817467 LOC102021128 olfactory receptor 2T1 gene DOID:630 genetic disease ISO RGD:1353113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817467 LOC102021128 olfactory receptor 2T1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8817467 LOC102021128 olfactory receptor 2T1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8817470 Clca1 chloride channel accessory 1 gene DOID:10320 asbestosis ISO RGD:1314776 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17637221|REF_RGD_ID:4145655 8817470 Clca1 chloride channel accessory 1 gene DOID:1485 cystic fibrosis ISO RGD:1314775 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa PMID:15218996|REF_RGD_ID:4145657 8817470 Clca1 chloride channel accessory 1 gene DOID:2841 asthma ISO RGD:1314775 D RGD:9068941 20200609 RGD PMID:17898169|REF_RGD_ID:4145653 8817470 Clca1 chloride channel accessory 1 gene DOID:2841 asthma ISO RGD:1314776 D RGD:9068941 20200609 RGD PMID:11296262|REF_RGD_ID:4145661 8817470 Clca1 chloride channel accessory 1 gene DOID:2841 asthma susceptibility ISO RGD:1314775 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:15318163|REF_RGD_ID:4145656 8817470 Clca1 chloride channel accessory 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314775 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:14985398|REF_RGD_ID:1331524 8817470 Clca1 chloride channel accessory 1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1314775 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:17637221|REF_RGD_ID:4145655 8817470 Clca1 chloride channel accessory 1 gene DOID:630 genetic disease ISO RGD:1314775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817496 Mcm8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:0080867 primary ovarian insufficiency 10 ISO RGD:1313114 D RGD:7240710 20180130 OMIM 8817496 Mcm8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:0080867 primary ovarian insufficiency 10 ISO RGD:1313114 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 10 PMID:25437880|PMID:25741868|PMID:25873734|PMID:31042289 8817496 Mcm8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313114 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8817496 Mcm8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:14227 azoospermia ISO RGD:1313114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8817496 Mcm8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8817496 Mcm8 minichromosome maintenance 8 homologous recombination repair factor gene DOID:630 genetic disease ISO RGD:1313114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817522 Kctd9 potassium channel tetramerization domain containing 9 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1323768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 8817522 Kctd9 potassium channel tetramerization domain containing 9 gene DOID:630 genetic disease ISO RGD:1323768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817542 Eif2a eukaryotic translation initiation factor 2A gene DOID:0050579 glycogen storage disease XV ISO RGD:1605026 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8817542 Eif2a eukaryotic translation initiation factor 2A gene DOID:5154 borna disease ISO RGD:1589591 D RGD:9068941 20200702 RGD protein:increased expression:cerebellum,hippocampus PMID:16912310|REF_RGD_ID:32733622 8817542 Eif2a eukaryotic translation initiation factor 2A gene DOID:630 genetic disease ISO RGD:1605026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817542 Eif2a eukaryotic translation initiation factor 2A gene DOID:9004009 Reperfusion Injury ISO RGD:1605026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19041636 8817542 Eif2a eukaryotic translation initiation factor 2A gene DOID:9007102 Myocardial Ischemia ISO RGD:1605026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19041636 8817562 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:0050712 AGAT deficiency ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8817562 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 8817562 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:0112357 spermatogenic failure 59 ISO RGD:1606959 D RGD:7240710 20211222 OMIM 8817562 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:0112357 spermatogenic failure 59 ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 59 PMID:33211200 8817562 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8817562 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:630 genetic disease ISO RGD:1606959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817562 Terb2 telomere repeat binding bouquet formation protein 2 gene DOID:9256 colorectal cancer ISO RGD:1606959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8817573 Iqch IQ motif containing H gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8817573 Iqch IQ motif containing H gene DOID:1909 melanoma ISO RGD:1604310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8817573 Iqch IQ motif containing H gene DOID:2717 Bloom syndrome ISO RGD:1604310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8817573 Iqch IQ motif containing H gene DOID:630 genetic disease ISO RGD:1604310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817573 Iqch IQ motif containing H gene DOID:9256 colorectal cancer ISO RGD:1604310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8817598 Pxmp4 peroxisomal membrane protein 4 gene DOID:2843 long QT syndrome ISO RGD:1348847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8817598 Pxmp4 peroxisomal membrane protein 4 gene DOID:630 genetic disease ISO RGD:1348847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817611 Ecm2 extracellular matrix protein 2 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1318155 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 8817611 Ecm2 extracellular matrix protein 2 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1318155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 8817611 Ecm2 extracellular matrix protein 2 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1318155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 8817611 Ecm2 extracellular matrix protein 2 gene DOID:630 genetic disease ISO RGD:1318155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817611 Ecm2 extracellular matrix protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1318155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8817638 Bcat1 branched chain amino acid transaminase 1 gene DOID:0080600 COVID-19 ISO RGD:1345403 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8817638 Bcat1 branched chain amino acid transaminase 1 gene DOID:13580 cholestasis ISO RGD:1345403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8817638 Bcat1 branched chain amino acid transaminase 1 gene DOID:630 genetic disease ISO RGD:1345403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817638 Bcat1 branched chain amino acid transaminase 1 gene DOID:9000998 Brain Injuries ISO RGD:2195 D RGD:9068941 20200609 RGD Protein:increased expression:neurons PMID:10686349|REF_RGD_ID:631308 8817638 Bcat1 branched chain amino acid transaminase 1 gene DOID:9004657 Weight Gain ISO RGD:1345403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8817657 Vamp8 vesicle associated membrane protein 8 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1347649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8817657 Vamp8 vesicle associated membrane protein 8 gene DOID:305 carcinoma ISO RGD:1347649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8817657 Vamp8 vesicle associated membrane protein 8 gene DOID:3393 coronary artery disease ISO RGD:1347649 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8817657 Vamp8 vesicle associated membrane protein 8 gene DOID:630 genetic disease ISO RGD:1347649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817657 Vamp8 vesicle associated membrane protein 8 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8817657 Vamp8 vesicle associated membrane protein 8 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8817665 Anapc1 anaphase promoting complex subunit 1 gene DOID:630 genetic disease ISO RGD:1353292 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8817665 Anapc1 anaphase promoting complex subunit 1 gene DOID:9002189 High Myopia ISO RGD:1353292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8817665 Anapc1 anaphase promoting complex subunit 1 gene DOID:9003349 Rothmund-Thomson Syndrome Type 1 ISO RGD:1353292 D RGD:7240710 20191030 OMIM 8817665 Anapc1 anaphase promoting complex subunit 1 gene DOID:9003349 Rothmund-Thomson Syndrome Type 1 ISO RGD:1353292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 1 PMID:25741868|PMID:28492532|PMID:31303264 8817725 Herc4 HECT and RLD domain containing E3 ubiquitin protein ligase 4 gene DOID:630 genetic disease ISO RGD:1322175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817770 Ube2k ubiquitin conjugating enzyme E2 K gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1323181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8817781 Msantd1 Myb/SANT DNA binding domain containing 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8817781 Msantd1 Myb/SANT DNA binding domain containing 1 gene DOID:1856 cherubism ISO RGD:1604952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8817781 Msantd1 Myb/SANT DNA binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1604952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817798 Lsm14a LSM14A mRNA processing body assembly factor gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1313874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8817798 Lsm14a LSM14A mRNA processing body assembly factor gene DOID:630 genetic disease ISO RGD:1313874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:0060575 3MC syndrome 1 ISO RGD:736027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:0080628 alopecia-mental retardation syndrome 1 ISO RGD:736027 D RGD:7240710 20190315 OMIM 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:0080628 alopecia-mental retardation syndrome 1 ISO RGD:736027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alopecia mental retardation syndrome 1 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 1 PMID:15592877|PMID:15806395|PMID:25741868|PMID:28054173|PMID:31288248|PMID:9003486 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:11714 gestational diabetes ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12153747|REF_RGD_ID:2313814 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:182 calcinosis ISO RGD:736027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16177000 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:3021 acute kidney failure ISO RGD:736027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:3393 coronary artery disease susceptibility ISO RGD:736027 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNPs PMID:17062776|REF_RGD_ID:1625792 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:5844 myocardial infarction ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19029462|REF_RGD_ID:2313810 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:585 nephrolithiasis ISO RGD:736027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:630 genetic disease ISO RGD:736027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:9002165 Diabetic Nephropathies ISO RGD:736027 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:15698447|REF_RGD_ID:2313813 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:9006599 Hypertriglyceridemia ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19228823|REF_RGD_ID:2313809 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:9007096 Stroke ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19029462|REF_RGD_ID:2313810 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:9007692 Insulin Resistance ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16567827|REF_RGD_ID:1625794 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:10128 D RGD:9068941 20200609 RGD PMID:17011519|REF_RGD_ID:1625793 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:736027 D RGD:9068941 20200609 RGD PMID:18633113|REF_RGD_ID:2313811 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736027 D RGD:9068941 20200609 RGD DNA:polymorphism: :-469T>G (rs2077119) (human) PMID:18316360|REF_RGD_ID:2313812 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:9970 obesity ISO RGD:736027 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19228823|REF_RGD_ID:2313809 8817821 Ahsg alpha 2-HS glycoprotein gene DOID:9970 obesity susceptibility ISO RGD:10128 D RGD:9068941 20200609 RGD PMID:17011519|REF_RGD_ID:1625793 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0050562 West syndrome ISO RGD:731284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16919904 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0050857 Perrault syndrome ISO RGD:731284 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:10419023|PMID:10497229|PMID:11810648|PMID:15216544|PMID:16385454|PMID:20673864|PMID:22864515|PMID:23181892|PMID:24033266|PMID:24108619|PMID:25741868|PMID:25967389|PMID:26243799|PMID:26970254|PMID:27790638|PMID:28017249|PMID:28492532|PMID:28708278|PMID:28830375|PMID:31455392|PMID:4061497|PMID:9482850|PMID:9915948 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0080600 COVID-19 ISO RGD:731284 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:731284 D RGD:7240710 20180130 OMIM 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:731284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency PMID:10400999|PMID:10419023|PMID:10497229|PMID:10671535|PMID:10748062|PMID:11330053|PMID:11743515|PMID:11810648|PMID:11992265|PMID:12562856|PMID:16199547|PMID:16385454|PMID:17576681|PMID:20673864|PMID:20681997|PMID:22507161|PMID:22864515|PMID:23100014|PMID:23181892|PMID:23308274|PMID:23332201|PMID:24033266|PMID:24108619|PMID:24553428|PMID:24602372|PMID:25741868|PMID:25882080|PMID:25954003|PMID:25967389|PMID:26243799|PMID:26467025|PMID:26970254|PMID:27124789|PMID:27243974|PMID:27290639|PMID:27528516|PMID:27618451|PMID:27790638|PMID:28017249|PMID:28490743|PMID:28492532|PMID:28649525|PMID:2868085|PMID:28708278|PMID:2882519|PMID:28830375|PMID:28973083|PMID:2921319|PMID:30396834|PMID:30561787|PMID:31230720|PMID:31455392|PMID:32042923|PMID:32904102|PMID:33510602|PMID:33539324|PMID:34440436|PMID:34623748|PMID:34645488|PMID:34660840|PMID:34719423|PMID:34732400|PMID:8279468|PMID:9345094|PMID:9482850|PMID:9536098|PMID:9915948 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:0090031 D-bifunctional protein deficiency severity ISO RGD:731284 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:16385454|REF_RGD_ID:10411884 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:10763 hypertension ISO RGD:621806 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal cortex (rat) PMID:18430809|REF_RGD_ID:2292646 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:13366 Stiff-Person syndrome ISO RGD:731284 D RGD:9068941 20200609 RGD PMID:12225901|REF_RGD_ID:10411898 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:630 genetic disease ISO RGD:731284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11810648|PMID:16385454|PMID:20673864|PMID:22864515|PMID:24033266|PMID:25741868|PMID:25954003|PMID:25967389|PMID:27618451|PMID:27790638|PMID:28490743|PMID:28492532|PMID:28649525|PMID:31230720 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731284 D RGD:7240710 20180130 OMIM 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 PMID:10419023|PMID:10497229|PMID:11810648|PMID:15216544|PMID:16385454|PMID:17576681|PMID:20673864|PMID:22864515|PMID:23181892|PMID:23332201|PMID:24033266|PMID:24108619|PMID:24553428|PMID:25741868|PMID:25967389|PMID:26243799|PMID:26467025|PMID:26970254|PMID:27790638|PMID:28017249|PMID:28492532|PMID:28708278|PMID:28830375|PMID:28973083|PMID:30396834|PMID:31230720|PMID:31455392|PMID:32747562|PMID:32904102|PMID:33539324|PMID:34719423|PMID:34906502|PMID:4061497|PMID:9482850|PMID:9536098|PMID:9915948 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9006534 Nervous System Malformations ISO RGD:731284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731284 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:9008301 Pseudo-Zellweger Syndrome ISO RGD:731284 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Pseudo Zellweger syndrome PMID:10419023|PMID:10497229|PMID:16385454|PMID:22864515|PMID:23181892|PMID:24033266|PMID:24108619|PMID:25741868|PMID:25967389|PMID:26970254|PMID:28492532|PMID:28708278|PMID:9482850|PMID:9915948 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:905 Zellweger syndrome ISO RGD:731284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10343282 8817832 Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 gene DOID:906 peroxisomal disease ISO RGD:731284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16385454|PMID:9345094 8817863 Unc5cl unc-5 family C-terminal like gene DOID:630 genetic disease ISO RGD:1342658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817863 Unc5cl unc-5 family C-terminal like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8817877 Incenp inner centromere protein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1313235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8817877 Incenp inner centromere protein gene DOID:1059 intellectual disability ISO RGD:1313235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8817877 Incenp inner centromere protein gene DOID:12712 nephronophthisis ISO RGD:1313235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 8817877 Incenp inner centromere protein gene DOID:1909 melanoma ISO RGD:1313235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8817877 Incenp inner centromere protein gene DOID:630 genetic disease ISO RGD:1313235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817877 Incenp inner centromere protein gene DOID:9005539 Familial Prostate Cancer ISO RGD:1313235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8817908 LOC102006228 histone H3 gene DOID:630 genetic disease ISO RGD:1345148 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817914 Podnl1 podocan like 1 gene DOID:630 genetic disease ISO RGD:1602677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817936 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:0110797 hereditary spastic paraplegia 45 ISO RGD:1322721 D RGD:7240710 20180130 OMIM 8817936 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:0110797 hereditary spastic paraplegia 45 ISO RGD:1322721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 PMID:16199547|PMID:17576681|PMID:19415352|PMID:24482476|PMID:25741868|PMID:28492532|PMID:29123918|PMID:32214227|PMID:9536098 8817936 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:10907 microcephaly ISO RGD:1322721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8817936 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:2476 hereditary spastic paraplegia ISO RGD:1322721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8817936 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:630 genetic disease ISO RGD:1322721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8817936 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:9002801 Recurrence ISO RGD:1322721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23377183 8817936 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322721 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8817936 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1322721 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 8817936 Nt5c2 5'-nucleotidase, cytosolic II gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1322721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23377183 8817976 Arhgap20 Rho GTPase activating protein 20 gene DOID:10283 prostate cancer ISO RGD:1350363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8817976 Arhgap20 Rho GTPase activating protein 20 gene DOID:1059 intellectual disability ISO RGD:1350363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8817976 Arhgap20 Rho GTPase activating protein 20 gene DOID:12704 ataxia telangiectasia ISO RGD:1350363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8817976 Arhgap20 Rho GTPase activating protein 20 gene DOID:630 genetic disease ISO RGD:1350363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8817976 Arhgap20 Rho GTPase activating protein 20 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1321463 D RGD:7240710 20190315 OMIM 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1321463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:10835638|PMID:11810641|PMID:12522553|PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:21940735|PMID:22125506|PMID:22859937|PMID:24123366|PMID:25741868|PMID:28492532|PMID:30157302 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1321463 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:10754 otitis media ISO RGD:1321464 D RGD:9068941 20220825 MouseDO OMIM:166760 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1321463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:1923 disorder of sexual development ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:4621 holoprosencephaly ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25741868|PMID:28492532 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:630 genetic disease ISO RGD:1321463 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:767 muscular atrophy ISO RGD:1310517 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat) PMID:14718385|REF_RGD_ID:1641826 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321463 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29746904 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1310517 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus (rat) PMID:15153551|REF_RGD_ID:1599409 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1321463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25791921 8818011 Tgif1 TGFB induced factor homeobox 1 gene DOID:9005523 Majeed Syndrome ISO RGD:1321463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:28492532 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:0050700 cardiomyopathy ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10614985 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:0060903 thrombosis ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16514058 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:10247 pleurisy ISO RGD:10232 D RGD:9068941 20200609 RGD PMID:15316088|REF_RGD_ID:4891029 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:10247 pleurisy ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:9208140|REF_RGD_ID:4891041 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:10762 portal hypertension ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:19950773|REF_RGD_ID:4891055 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:12025958|REF_RGD_ID:704378 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:2201 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:11934804|REF_RGD_ID:4890455 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10614985 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:10763 hypertension ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-58T>C (human) PMID:10904024|REF_RGD_ID:4891034 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:11446 sciatic neuropathy ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:18182225|REF_RGD_ID:5129227 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:1826 epilepsy ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:12746865|REF_RGD_ID:704381 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:2224 essential thrombocythemia ISO RGD:737386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:2841 asthma ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:14727005|REF_RGD_ID:4890454 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:2841 asthma ISO RGD:737386 D RGD:9068941 20200609 RGD PMID:8856156|REF_RGD_ID:4891042 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:2841 asthma ISO RGD:737386 D RGD:9068941 20200609 RGD protein:increased expression:blood, eosinophil PMID:19038786|REF_RGD_ID:4891028 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:2841 asthma onset ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:11517947|REF_RGD_ID:4890456 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:3021 acute kidney failure ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24975837 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:3070 high grade glioma ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:20080302|REF_RGD_ID:4891047 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737386 D RGD:9068941 20200609 RGD PMID:16600946|REF_RGD_ID:4890451 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:3328 temporal lobe epilepsy ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15196965 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:4404 occupational dermatitis ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:4483 rhinitis ISO RGD:737386 D RGD:9068941 20200609 RGD PMID:11149999|PMID:1890650|REF_RGD_ID:4891033|REF_RGD_ID:4891044 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:4971 myelofibrosis ISO RGD:737386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:4989 pancreatitis ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:7791078|REF_RGD_ID:4891025 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:552 pneumonia ISO RGD:10232 D RGD:9068941 20200609 RGD PMID:15021973|REF_RGD_ID:4891030 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:5844 myocardial infarction ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:630 genetic disease ISO RGD:737386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:6432 pulmonary hypertension ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:15878794|REF_RGD_ID:4890453 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:7148 rheumatoid arthritis ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:850 lung disease ISO RGD:2201 D RGD:9068941 20200609 RGD Lung Injury associated with Endotoxemia PMID:10702448|REF_RGD_ID:4890457 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9000352 Vascular System Injuries ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9000641 Pain ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9001371 Eosinophilia ISO RGD:10232 D RGD:9068941 20200609 RGD PMID:10385260|REF_RGD_ID:4891039 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:10232 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17596525|REF_RGD_ID:2313335 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9002211 Hyperalgesia ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:10188975|REF_RGD_ID:4891040 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9002211 Hyperalgesia ISO RGD:2201 D RGD:9068941 20200609 RGD associated with Diabetic Neuropathy PMID:19300402|REF_RGD_ID:2313332 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9002211 Hyperalgesia ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989505|PMID:19300402|PMID:19815945 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9002661 Diabetes Complications ISO RGD:10232 D RGD:9068941 20200609 RGD PMID:20479236|REF_RGD_ID:7241550 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9005372 Inflammation ISO RGD:10232 D RGD:9068941 20200609 RGD associated with Asthma PMID:15021973|REF_RGD_ID:4891030 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9005372 Inflammation ISO RGD:2201 D RGD:9068941 20200609 RGD PMID:7791078|REF_RGD_ID:4891025 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9005372 Inflammation ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2201 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2201 D RGD:9068941 20200609 RGD protein:increased expression:hindbrain, spinal cord PMID:16138314|REF_RGD_ID:4890452 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9006024 Hypotension ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1334354|PMID:16321614 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9006024 Hypotension ISO RGD:737386 D RGD:9068941 20200609 RGD PMID:9039147|REF_RGD_ID:4891024 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9006205 Animal Disease Models ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9007073 Cough ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNP: :rs8012552 (human) PMID:21052031|REF_RGD_ID:4891026 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9007073 Cough ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-58T>C (human) PMID:10904024|REF_RGD_ID:4891034 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9007073 Cough ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:12522467|REF_RGD_ID:4891031 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9007073 Cough no_association ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-58T>C (human) PMID:11699055|REF_RGD_ID:4891032 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9007073 Cough no_association ISO RGD:737386 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19744011|REF_RGD_ID:4891027 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30685357 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9008217 Hemorrhage ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16514058 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9622145 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9008887 Microvascular Angina ISO RGD:737386 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:17852785|REF_RGD_ID:4890450 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9009039 Hyperemia ISO RGD:737386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11837250 8818045 Bdkrb2 bradykinin receptor B2 gene DOID:9119 acute myeloid leukemia ISO RGD:737386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8818068 Hipk1 homeodomain interacting protein kinase 1 gene DOID:0080690 RASopathy ISO RGD:1312671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8818068 Hipk1 homeodomain interacting protein kinase 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1312671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8818068 Hipk1 homeodomain interacting protein kinase 1 gene DOID:3021 acute kidney failure ISO RGD:1312671 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36052886 8818068 Hipk1 homeodomain interacting protein kinase 1 gene DOID:630 genetic disease ISO RGD:1312671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818068 Hipk1 homeodomain interacting protein kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8818133 Kdm1b lysine demethylase 1B gene DOID:0060224 atrial fibrillation ISO RGD:1321760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8818133 Kdm1b lysine demethylase 1B gene DOID:630 genetic disease ISO RGD:1321760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818133 Kdm1b lysine demethylase 1B gene DOID:768 retinoblastoma ISO RGD:1321760 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (human) PMID:16180235|REF_RGD_ID:9588276 8818161 Atg16l2 autophagy related 16 like 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1606757 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8818161 Atg16l2 autophagy related 16 like 2 gene DOID:1059 intellectual disability ISO RGD:1606757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8818161 Atg16l2 autophagy related 16 like 2 gene DOID:630 genetic disease ISO RGD:1606757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818183 Tmsb15a thymosin beta 15A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8818183 Tmsb15a thymosin beta 15A gene DOID:12849 autistic disorder ISO RGD:1602496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8818183 Tmsb15a thymosin beta 15A gene DOID:630 genetic disease ISO RGD:1602496 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818191 LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:71016 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 8818191 LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:736649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8818191 LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase gene DOID:10787 premature menopause ISO RGD:71016 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 8818191 LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase gene DOID:13580 cholestasis ISO RGD:736649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 8818191 LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:71016 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 8818191 LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase gene DOID:630 genetic disease ISO RGD:736649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818191 LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25448281 8818196 Nelfcd negative elongation factor complex member C/D gene DOID:10283 prostate cancer disease_progression ISO RGD:1346942 D RGD:9068941 20200609 RGD PMID:19945309|REF_RGD_ID:9693724 8818196 Nelfcd negative elongation factor complex member C/D gene DOID:630 genetic disease ISO RGD:1346942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818216 Plppr2 phospholipid phosphatase related 2 gene DOID:630 genetic disease ISO RGD:1604322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818242 Uvrag UV radiation resistance associated gene DOID:10283 prostate cancer ISO RGD:1317170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8818242 Uvrag UV radiation resistance associated gene DOID:1059 intellectual disability ISO RGD:1317170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8818242 Uvrag UV radiation resistance associated gene DOID:630 genetic disease ISO RGD:1317170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:0060224 atrial fibrillation ISO RGD:1314942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:1059 intellectual disability ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:1909 melanoma ISO RGD:1314942 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:2717 Bloom syndrome ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:630 genetic disease ISO RGD:1314942 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24828792|PMID:25741868|PMID:26138117|PMID:26153217|PMID:26801221|PMID:27108999|PMID:28492532|PMID:33526774 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1314942 D RGD:7240710 20190315 OMIM 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868|PMID:26138117|PMID:26153217|PMID:27108999|PMID:28492532|PMID:32921582|PMID:33526774 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9004447 Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability PMID:26153217|PMID:27108999 8818266 Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 gene DOID:9256 colorectal cancer ISO RGD:1314942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8818367 Lonp1 lon peptidase 1, mitochondrial gene DOID:0111274 CODAS syndrome ISO RGD:734453 D RGD:7240710 20180130 OMIM 8818367 Lonp1 lon peptidase 1, mitochondrial gene DOID:0111274 CODAS syndrome ISO RGD:734453 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CODAS syndrome PMID:1887855|PMID:25574826|PMID:25741868|PMID:25741869|PMID:25808063|PMID:27878435|PMID:28492532|PMID:30304514|PMID:31636596|PMID:31923470|PMID:5574826 8818367 Lonp1 lon peptidase 1, mitochondrial gene DOID:2316 brain ischemia ISO RGD:621598 D RGD:9068941 20200609 RGD PMID:12082077|REF_RGD_ID:633879 8818367 Lonp1 lon peptidase 1, mitochondrial gene DOID:326 ischemia ISO RGD:621598 D RGD:9068941 20200609 RGD PMID:12082077|REF_RGD_ID:633879 8818367 Lonp1 lon peptidase 1, mitochondrial gene DOID:630 genetic disease ISO RGD:734453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:5574826 8818367 Lonp1 lon peptidase 1, mitochondrial gene DOID:83 cataract ISO RGD:734453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 8818367 Lonp1 lon peptidase 1, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:1887855|PMID:25574826|PMID:25741868|PMID:28492532 8818367 Lonp1 lon peptidase 1, mitochondrial gene DOID:9007661 Dwarfism ISO RGD:734453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 8818400 CUNH1orf146 chromosome unknown C1orf146 homolog gene DOID:630 genetic disease ISO RGD:1603476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818417 Safb2 scaffold attachment factor B2 gene DOID:10283 prostate cancer ISO RGD:1342747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8818417 Safb2 scaffold attachment factor B2 gene DOID:630 genetic disease ISO RGD:1342747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818450 Mfap2 microfibril associated protein 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1314413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8818450 Mfap2 microfibril associated protein 2 gene DOID:5119 ovarian cyst ISO RGD:1314413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8818450 Mfap2 microfibril associated protein 2 gene DOID:630 genetic disease ISO RGD:1314413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818471 Atp10b ATPase phospholipid transporting 10B (putative) gene DOID:13938 amenorrhea ISO RGD:1345428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8818471 Atp10b ATPase phospholipid transporting 10B (putative) gene DOID:630 genetic disease ISO RGD:1345428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818507 LOC102029364 keratin-associated protein 24-1 gene DOID:630 genetic disease ISO RGD:2292073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818519 Tlr10 toll like receptor 10 gene DOID:2841 asthma susceptibility ISO RGD:1323096 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18547625|REF_RGD_ID:4889528 8818519 Tlr10 toll like receptor 10 gene DOID:630 genetic disease ISO RGD:1323096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818519 Tlr10 toll like receptor 10 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1323096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8818532 Tgfb1i1 transforming growth factor beta 1 induced transcript 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:732522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8818532 Tgfb1i1 transforming growth factor beta 1 induced transcript 1 gene DOID:630 genetic disease ISO RGD:732522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818554 Limd1 LIM domain containing 1 gene DOID:630 genetic disease ISO RGD:1320381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818554 Limd1 LIM domain containing 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1320381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8818567 Scml4 Scm polycomb group protein like 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8818567 Scml4 Scm polycomb group protein like 4 gene DOID:630 genetic disease ISO RGD:1322066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:1318854 D RGD:9068941 20200709 RGD PMID:22492852|REF_RGD_ID:35316076 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1318853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:28492532 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1318853 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:28492532 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:11476 osteoporosis ISO RGD:1318854 D RGD:9068941 20220825 MouseDO OMIM:166710 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:13272 Klebsiella pneumonia ISO RGD:1318854 D RGD:9068941 20200723 RGD mRNA:increased expression:lung (mouse) PMID:20864681|REF_RGD_ID:36049798 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:13272 Klebsiella pneumonia severity ISO RGD:1318854 D RGD:9068941 20200709 RGD PMID:22729155|REF_RGD_ID:35316077 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:2841 asthma ISO RGD:1318853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 PMID:17503328 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:2841 asthma susceptibility ISO RGD:1318853 D RGD:7240710 20190502 OMIM 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA:increased expression:lung (human) PMID:21278795|REF_RGD_ID:36049796 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:399 tuberculosis ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA, protein:increased expression:sputum (human) PMID:19535630|REF_RGD_ID:36049800 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:5052 melioidosis ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:19114913|REF_RGD_ID:36049801 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:630 genetic disease ISO RGD:1318853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:874 bacterial pneumonia ISO RGD:1318854 D RGD:9068941 20200723 RGD PMID:20439918|PMID:28120642|REF_RGD_ID:34888234|REF_RGD_ID:36049799 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9000109 Haemophilus Infections severity ISO RGD:1318854 D RGD:9068941 20200709 RGD PMID:25585690|REF_RGD_ID:11527046 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9000684 Porcine Reproductive and Respiratory Syndrome ISO RGD:14200541 D RGD:9068941 20200723 RGD mRNA:increased expression:peripheral blood mononuclear cell (pig) PMID:26022073|REF_RGD_ID:36049793 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9002786 Surgical Wound Infection ISO RGD:1318853 D RGD:9068941 20200709 RGD associated with colorectal cancer; mRNA:increased expression: plasma, leukocyte (human) PMID:28214365|REF_RGD_ID:34888232 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9002827 Porcine Postweaning Multisystemic Wasting Syndrome ISO RGD:14200541 D RGD:9068941 20200723 RGD associated with Porcine Reproductive and Respiratory Syndrome; mRNA:decreased expression:peripheral blood mononuclear cell (pig) PMID:26022073|REF_RGD_ID:36049793 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9002953 Escherichia Coli Infections treatment ISO RGD:14200541 D RGD:9068941 20200723 RGD PMID:27832756|REF_RGD_ID:34888235 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1318853 D RGD:9068941 20200723 RGD PMID:21278795|REF_RGD_ID:36049796 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1318853 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25780291 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:1318854 D RGD:9068941 20200723 RGD mRNA, protein:increased expression:lung (mouse) PMID:21577093|REF_RGD_ID:36049795 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9005930 Endotoxemia ISO RGD:1318853 D RGD:9068941 20200723 RGD mRNA, protein:increased expression:blood (human) PMID:17982103|REF_RGD_ID:36049802 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1318854 D RGD:9068941 20200709 RGD associated with ulcerative colitis;mRNA, protein:decreased expression:colon (mouse) PMID:28713897|REF_RGD_ID:34888231 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9007417 Pseudomonas Infections severity ISO RGD:1318854 D RGD:9068941 20200723 RGD associated with Sepsis PMID:16917541|REF_RGD_ID:36049803 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9008885 Staphylococcal Infections treatment ISO RGD:1318854 D RGD:9068941 20200709 RGD PMID:28954388|REF_RGD_ID:34888230 8818579 Irak3 interleukin 1 receptor associated kinase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1318854 D RGD:9068941 20220825 MouseDO OMIM:222100 8818596 Pln phospholamban gene DOID:0050700 cardiomyopathy ISO RGD:1349244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25593317|PMID:25611685|PMID:25741868|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:30242101|PMID:31705731|PMID:31737537 8818596 Pln phospholamban gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1349244 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Intrinsic cardiomyopathy PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 8818596 Pln phospholamban gene DOID:0060224 atrial fibrillation ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8818596 Pln phospholamban gene DOID:0060319 cardiac arrest ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 8818596 Pln phospholamban gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1349244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8818596 Pln phospholamban gene DOID:0110324 hypertrophic cardiomyopathy 18 ISO RGD:1349244 D RGD:7240710 20180130 OMIM 8818596 Pln phospholamban gene DOID:0110324 hypertrophic cardiomyopathy 18 ISO RGD:1349244 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26573135|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 8818596 Pln phospholamban gene DOID:0110439 dilated cardiomyopathy 1P ISO RGD:1349244 D RGD:7240710 20180130 OMIM 8818596 Pln phospholamban gene DOID:0110439 dilated cardiomyopathy 1P ISO RGD:1349244 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:16897780|PMID:17655857|PMID:18056057|PMID:18241046|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24451198|PMID:24503780|PMID:24909667|PMID:25351510|PMID:25563649|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28771489|PMID:28790153|PMID:29501609|PMID:30012515|PMID:30012837|PMID:30242101|PMID:30794913|PMID:30847666|PMID:30871747|PMID:31705731|PMID:31737537|PMID:33495597|PMID:35297759 8818596 Pln phospholamban gene DOID:0112229 lissencephaly 10 ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly 10 PMID:18241046|PMID:24033266|PMID:28492532 8818596 Pln phospholamban gene DOID:1059 intellectual disability ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8818596 Pln phospholamban gene DOID:10907 microcephaly ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8818596 Pln phospholamban gene DOID:114 heart disease treatment ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:23458196|REF_RGD_ID:7327178 8818596 Pln phospholamban gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349244 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 8818596 Pln phospholamban gene DOID:12849 autistic disorder ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 8818596 Pln phospholamban gene DOID:12930 dilated cardiomyopathy ISO RGD:1349244 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:16897780|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30012515|PMID:30012837|PMID:30847666 8818596 Pln phospholamban gene DOID:14289 Ebstein anomaly ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ebstein anomaly 8818596 Pln phospholamban gene DOID:1826 epilepsy ISO RGD:1349244 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8818596 Pln phospholamban gene DOID:5844 myocardial infarction ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16026515|PMID:16162791 8818596 Pln phospholamban gene DOID:5844 myocardial infarction treatment ISO RGD:619894 D RGD:9068941 20200609 RGD PMID:23781262|REF_RGD_ID:7327176 8818596 Pln phospholamban gene DOID:5844 myocardial infarction treatment ISO RGD:619894 D RGD:9068941 20231221 RGD protein:decreased expression:heart left ventricle (rat) PMID:26067684|REF_RGD_ID:11097969 8818596 Pln phospholamban gene DOID:6000 congestive heart failure treatment ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22970977|REF_RGD_ID:7327181 8818596 Pln phospholamban gene DOID:6000 congestive heart failure treatment ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:22947202|REF_RGD_ID:7327182 8818596 Pln phospholamban gene DOID:9000495 Tremor ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8818596 Pln phospholamban gene DOID:9000564 Prehypertension ISO RGD:619894 D RGD:9068941 20200609 RGD protein:decreased expression, decreased serine phosphorylation:superior cervical ganglion PMID:22252398|REF_RGD_ID:7327185 8818596 Pln phospholamban gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991071 8818596 Pln phospholamban gene DOID:9002661 Diabetes Complications ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:diaphragm PMID:23443767|REF_RGD_ID:7327179 8818596 Pln phospholamban gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:619894 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:heart left ventricle PMID:22185592|REF_RGD_ID:7327207 8818596 Pln phospholamban gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10734148 8818596 Pln phospholamban gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:619894 D RGD:9068941 20200609 RGD PMID:21934351|REF_RGD_ID:7327186 8818596 Pln phospholamban gene DOID:9007925 Sudden Cardiac Death ISO RGD:1349244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 8818596 Pln phospholamban gene DOID:9352 type 2 diabetes mellitus ISO RGD:619894 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:22621761|REF_RGD_ID:7327183 8818596 Pln phospholamban gene DOID:9767 myocardial stunning ISO RGD:1349244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317512 8818602 Paqr9 progestin and adipoQ receptor family member 9 gene DOID:630 genetic disease ISO RGD:1323015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818602 Paqr9 progestin and adipoQ receptor family member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8818607 Cc2d2b coiled-coil and C2 domain containing 2B gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1321297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 8818607 Cc2d2b coiled-coil and C2 domain containing 2B gene DOID:630 genetic disease ISO RGD:1321297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818651 Prrg2 proline rich and Gla domain 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1313475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8818651 Prrg2 proline rich and Gla domain 2 gene DOID:630 genetic disease ISO RGD:1313475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818667 Tulp4 TUB like protein 4 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8818667 Tulp4 TUB like protein 4 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 8818667 Tulp4 TUB like protein 4 gene DOID:630 genetic disease ISO RGD:1350994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818691 Slc16a3 solute carrier family 16 member 3 gene DOID:630 genetic disease ISO RGD:731750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818691 Slc16a3 solute carrier family 16 member 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:731750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27224918 8818691 Slc16a3 solute carrier family 16 member 3 gene DOID:9008939 Breast Neoplasms ISO RGD:731750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22313602 8818709 Acad9 acyl-CoA dehydrogenase family member 9 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1348095 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:16199547|PMID:20816094|PMID:20929961|PMID:21057504|PMID:22200994|PMID:22277967|PMID:22499348|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26467025|PMID:26475292|PMID:26669660|PMID:27290639|PMID:28279569|PMID:28492532|PMID:28529009|PMID:30025539|PMID:30831263|PMID:31658717|PMID:33027564|PMID:34023438|PMID:34440436 8818709 Acad9 acyl-CoA dehydrogenase family member 9 gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1348095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B PMID:28492532 8818709 Acad9 acyl-CoA dehydrogenase family member 9 gene DOID:0111947 immunodeficiency 21 ISO RGD:1348095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:22147895|PMID:23223431|PMID:28492532 8818709 Acad9 acyl-CoA dehydrogenase family member 9 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1348095 D RGD:7240710 20180130 OMIM 8818709 Acad9 acyl-CoA dehydrogenase family member 9 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1348095 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency PMID:16199547|PMID:17564966|PMID:17576681|PMID:20816094|PMID:20929961|PMID:21057504|PMID:22200994|PMID:22277967|PMID:22499348|PMID:23836383|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26467025|PMID:26475292|PMID:26669660|PMID:27233227|PMID:27290639|PMID:27438479|PMID:27884173|PMID:28279569|PMID:28492532|PMID:28529009|PMID:30025539|PMID:30311383|PMID:30831263|PMID:31658717|PMID:31665838|PMID:32313153|PMID:32746448|PMID:33027564|PMID:34023438|PMID:34440436|PMID:7599230|PMID:9536098 8818709 Acad9 acyl-CoA dehydrogenase family member 9 gene DOID:630 genetic disease ISO RGD:1348095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26475292|PMID:27233227|PMID:28492532|PMID:30831263|PMID:9536098 8818709 Acad9 acyl-CoA dehydrogenase family member 9 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1348095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532 8818709 Acad9 acyl-CoA dehydrogenase family member 9 gene DOID:9270 alkaptonuria ISO RGD:1348095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8818740 Insyn2b inhibitory synaptic factor family member 2B gene DOID:0111951 immunodeficiency 40 ISO RGD:3497372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:25741868|PMID:26083206|PMID:28492532 8818740 Insyn2b inhibitory synaptic factor family member 2B gene DOID:630 genetic disease ISO RGD:3497372 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818746 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8818746 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8818746 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8818746 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8818746 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:5812 MHC class II deficiency ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8818746 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:630 genetic disease ISO RGD:1602382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818746 Kplce KPRP N-terminal and LCE C-terminal like protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8818755 Six4 SIX homeobox 4 gene DOID:630 genetic disease ISO RGD:1315508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818755 Six4 SIX homeobox 4 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:1315508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:18666230|PMID:25414181|PMID:28492532 8818778 Klhl8 kelch like family member 8 gene DOID:630 genetic disease ISO RGD:1312275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818778 Klhl8 kelch like family member 8 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1312275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8818796 Znf697 zinc finger protein 697 gene DOID:0050722 PHGDH deficiency ISO RGD:1603938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 8818796 Znf697 zinc finger protein 697 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1603938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 8818796 Znf697 zinc finger protein 697 gene DOID:630 genetic disease ISO RGD:1603938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0050477 Liddle syndrome ISO RGD:732847 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.W574X (human) PMID:7550319|REF_RGD_ID:737754 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0060041 autism spectrum disorder ISO RGD:732847 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive PMID:10391210|PMID:11231969|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17634077|PMID:18424465|PMID:18507830|PMID:19462466|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555|PMID:8640238 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:732847 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:10391210|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17560176|PMID:17634077|PMID:18424465|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:732847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0080528 bronchiectasis 3 ISO RGD:732847 D RGD:7240710 20180130 OMIM 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:0080528 bronchiectasis 3 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 3 PMID:10391210|PMID:12473862|PMID:17460608|PMID:17560176|PMID:17634077|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21956615|PMID:22995991|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:10763 hypertension ISO RGD:732847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15198480 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:1485 cystic fibrosis ISO RGD:732847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16463024 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:2661 myoepithelioma ISO RGD:732847 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:4479 pseudohypoaldosteronism ISO RGD:732847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8640238 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:4479 pseudohypoaldosteronism ISO RGD:732847 D RGD:9068941 20200609 RGD PHA type I,OMIM:264350;DNA:splice-site mutation:318-1G>A PMID:8640238|REF_RGD_ID:1624147 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:630 genetic disease ISO RGD:732847 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:9005031 Liddle Syndrome 1 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Liddle syndrome 1 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:9006024 Hypotension ISO RGD:732847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11463765 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:9006708 PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE ISO RGD:732847 D RGD:7240710 20230308 OMIM 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:9006708 PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE ISO RGD:732847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB3, autosomal recessive PMID:11231969|PMID:8640238 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:9007420 Liddle Syndrome 2 ISO RGD:732847 D RGD:7240710 20190315 OMIM 8818814 Scnn1g sodium channel epithelial 1 subunit gamma gene DOID:9007420 Liddle Syndrome 2 ISO RGD:732847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Liddle syndrome 2 PMID:10391210|PMID:12473862|PMID:15198480|PMID:17460608|PMID:17634077|PMID:18507830|PMID:19462466|PMID:20376790|PMID:21956615|PMID:22995991|PMID:23149595|PMID:24033266|PMID:24882431|PMID:25741868|PMID:25900089|PMID:26135620|PMID:26467025|PMID:26537344|PMID:27884173|PMID:28492532|PMID:28497567|PMID:29229744|PMID:31655555|PMID:7550319 8818837 Tars3 threonyl-tRNA synthetase 3 gene DOID:630 genetic disease ISO RGD:1351710 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:0060001 withdrawal disorder treatment ISO RGD:621859 D RGD:9068941 20200609 RGD associated with Morphine Dependence PMID:25604667|REF_RGD_ID:13514096 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:12858 Huntington's disease ISO RGD:621859 D RGD:9068941 20200609 RGD PMID:18502785|REF_RGD_ID:13515080 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:1596 depressive disorder treatment ISO RGD:621859 D RGD:9068941 20200609 RGD PMID:27457507|REF_RGD_ID:13514054 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:1824 status epilepticus ISO RGD:621859 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:25219249|REF_RGD_ID:13515071 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:3312 bipolar disorder ISO RGD:1347073 D RGD:9068941 20200609 RGD DNA, mRNA:SNPs, haplotype, splice variant:multiple PMID:23295814|REF_RGD_ID:13515076 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:3454 brain infarction ISO RGD:621859 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:5419 schizophrenia ISO RGD:1347073 D RGD:9068941 20200609 RGD DNA, mRNA:SNPs, haplotype, splice variant:multiple PMID:23295814|REF_RGD_ID:13515076 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:5419 schizophrenia ISO RGD:621859 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:nucleus accumbens PMID:22820052|REF_RGD_ID:13515078 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:630 genetic disease ISO RGD:1347073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9003104 Intracranial Hemorrhages ISO RGD:621859 D RGD:9068941 20200609 RGD PMID:23543809|REF_RGD_ID:13515075 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621859 D RGD:9068941 20200609 RGD PMID:23153068|REF_RGD_ID:13515077 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9003805 Catalepsy ISO RGD:1347073 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20682746 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:621859 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:27771532|REF_RGD_ID:13514053 8818861 Ppp1r1b protein phosphatase 1 regulatory inhibitor subunit 1B gene DOID:9008675 Dyskinesias ISO RGD:1347073 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20682746 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ISO RGD:1606577 D RGD:7240710 20180130 OMIM 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type ISO RGD:1606577 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome PMID:16199547|PMID:16760738|PMID:19334086|PMID:22305528|PMID:22541558|PMID:23188108|PMID:24470203|PMID:24999515|PMID:25326635|PMID:25326637|PMID:25387991|PMID:25741868|PMID:26507355|PMID:28492532|PMID:28708303|PMID:32333448|PMID:32410215|PMID:36135330 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:10485 esophageal atresia ISO RGD:1606577 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:23188108|REF_RGD_ID:10045556 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:10907 microcephaly ISO RGD:1606577 D RGD:9068941 20230105 RGD associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple PMID:24470203|REF_RGD_ID:155791662 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:2043 hepatitis B susceptibility ISO RGD:1606577 D RGD:9068941 20230105 RGD PMID:34436958|REF_RGD_ID:155791665 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:219 colon cancer ameliorates ISO RGD:1557328 D RGD:9068941 20230105 RGD associated with colitis; PMID:31278373|REF_RGD_ID:155791667 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:630 genetic disease ISO RGD:1606577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24470203|PMID:25741868|PMID:26507355|PMID:28492532 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1606577 D RGD:9068941 20230105 RGD PMID:34282556|REF_RGD_ID:155791664 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606577 D RGD:9068941 20230105 RGD PMID:34282556|REF_RGD_ID:155791664 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1606577 D RGD:9068941 20230105 RGD protein:increased expression:trophoblast, decidua: PMID:32447180|REF_RGD_ID:155791666 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9004538 Hearing Loss ISO RGD:1606577 D RGD:9068941 20230105 RGD associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple PMID:24470203|REF_RGD_ID:155791662 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9005147 Hydatidiform Mole ISO RGD:1606577 D RGD:9068941 20230105 RGD protein:increased expression:trophoblast, decidua: PMID:32447180|REF_RGD_ID:155791666 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1606577 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:23188108|REF_RGD_ID:10045556 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1606577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741880 8818875 Eftud2 elongation factor Tu GTP binding domain containing 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1606577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:1062 Fanconi syndrome ISO RGD:1308466 D RGD:9068941 20230223 RGD PMID:35695380|REF_RGD_ID:155630629 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318250 D RGD:7240710 20180130 OMIM 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis ISO RGD:1318250 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cystinoses | ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis | ClinVar Annotator: match by term: Cystinosis, atypical nephropathic | ClinVar Annotator: match by term: Lysosomal cystine transport protein, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis PMID:10068513|PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19580442|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21305353|PMID:21546516|PMID:21786142|PMID:21963264|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24385851|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27451386|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29127259|PMID:29421779|PMID:29467429|PMID:30214781|PMID:30554218|PMID:30609409|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35513889|PMID:35571017|PMID:35738466|PMID:9536098|PMID:9537412|PMID:9792862 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis susceptibility ISO RGD:1318250 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:9537412|REF_RGD_ID:1601022 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:1064 cystinosis treatment ISO RGD:1318250 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:18578013|REF_RGD_ID:12910866 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:1184 nephrotic syndrome ISO RGD:1318250 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:10556299|PMID:19580442|PMID:24464559|PMID:25741868|PMID:29127259 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:3613 Canavan disease ISO RGD:1318250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:630 genetic disease ISO RGD:1318250 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:26655004|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30214781|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35571017|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:9002476 Infantile Nephropathic Cystinosis ISO RGD:1318250 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Infantile nephropathic cystinosis PMID:10556299|PMID:11562417|PMID:12204010|PMID:12442267|PMID:19863563|PMID:21786142|PMID:22450360|PMID:25326109|PMID:25741868|PMID:27102039|PMID:28276207|PMID:28492532|PMID:33532864|PMID:35738466|PMID:9537412|PMID:9792862 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:9002525 Hereditary Eye Diseases treatment ISO RGD:1318250 D RGD:9068941 20200609 RGD associated with Cystinosis;human gene in a mouse model PMID:26540660|REF_RGD_ID:11354731 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1318250 D RGD:7240710 20180130 OMIM 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1318250 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:26655004|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30214781|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35571017|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:1318250 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35738466|PMID:9536098|PMID:9537412|PMID:9792862 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:7240710 20180130 OMIM 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:33532864|PMID:33822926|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 8818909 Ctns cystinosin, lysosomal cystine transporter gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318250 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystinosis, adult, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic | ClinVar Annotator: match by term: Cystinosis, ocular nonnephropathic PMID:10444339|PMID:10482956|PMID:10556299|PMID:10571941|PMID:10625078|PMID:10673275|PMID:10909858|PMID:11505338|PMID:11562417|PMID:11565547|PMID:11689434|PMID:11708862|PMID:11855931|PMID:12110740|PMID:12204010|PMID:12442267|PMID:12644911|PMID:12825071|PMID:15128704|PMID:15365816|PMID:16199547|PMID:17576681|PMID:18178779|PMID:18186520|PMID:18752449|PMID:19852576|PMID:19863563|PMID:20061170|PMID:20301574|PMID:20352457|PMID:21305353|PMID:21546516|PMID:21786142|PMID:22232659|PMID:22450360|PMID:22528245|PMID:22664570|PMID:23640116|PMID:24033266|PMID:24123366|PMID:24464559|PMID:25326109|PMID:25741868|PMID:26266097|PMID:26489029|PMID:26565940|PMID:26655004|PMID:27102039|PMID:27533158|PMID:27625850|PMID:27734949|PMID:27858370|PMID:28122645|PMID:28238446|PMID:28276207|PMID:28405942|PMID:28465352|PMID:28492532|PMID:28629674|PMID:28649545|PMID:28793998|PMID:28893421|PMID:28983406|PMID:29467429|PMID:30214781|PMID:30554218|PMID:30849045|PMID:30949462|PMID:30957593|PMID:31074291|PMID:31672123|PMID:33532864|PMID:33661986|PMID:33822926|PMID:35571017|PMID:35738466|PMID:7668285|PMID:9536098|PMID:9537412|PMID:9792862 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:0014667 disease of metabolism ISO RGD:621725 D RGD:9068941 20200609 RGD Acute Lysosomal Thesaurismosis;protein: increased expression:kidney proximal tubule epithelial cell, lysosome (rat) PMID:10469394|REF_RGD_ID:4142786 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:10733 D RGD:9068941 20200609 RGD PMID:21135124|REF_RGD_ID:6218980 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:0081267 graft-versus-host disease ISO RGD:621725 D RGD:9068941 20200609 RGD PMID:9557158|REF_RGD_ID:7242787 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:1073 renal hypertension ISO RGD:736219 D RGD:9068941 20200609 RGD DNA: snp: 5'utr: -110A>C Associated with chronic kidney disease PMID:21475814|REF_RGD_ID:7242785 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:10763 hypertension ISO RGD:736219 D RGD:9068941 20200609 RGD mRNA: increased expression: leukocyte PMID:17341625|REF_RGD_ID:6480224 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:12858 Huntington's disease ISO RGD:10733 D RGD:9068941 20200609 RGD protein: increased expression PMID:22171050|REF_RGD_ID:5688778 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:14330 Parkinson's disease ISO RGD:621725 D RGD:9068941 20200609 RGD protein: increased expression: brain PMID:17241115|REF_RGD_ID:6480228 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:14330 Parkinson's disease ISO RGD:736219 D RGD:9068941 20200609 RGD PMID:18704197|REF_RGD_ID:6480203 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:14330 Parkinson's disease ISO RGD:736219 D RGD:9068941 20200609 RGD protein: decreased expression PMID:20697033|REF_RGD_ID:6218982 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:1749 squamous cell carcinoma ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:224 transient cerebral ischemia ISO RGD:621725 D RGD:9068941 20200609 RGD protein:increased expression:brain, postsynaptic density (rat) PMID:9425004|REF_RGD_ID:10059344 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:2316 brain ischemia ISO RGD:621725 D RGD:9068941 20200609 RGD PMID:16805800|REF_RGD_ID:6480229 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:2377 multiple sclerosis ISO RGD:736219 D RGD:9068941 20200609 RGD protein: increased expression: cerebrospinal fluid PMID:16303141|REF_RGD_ID:6480236 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:736219 D RGD:9068941 20200609 RGD protein: increased expression PMID:21824468|REF_RGD_ID:5688780 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:299 adenocarcinoma ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:3021 acute kidney failure ISO RGD:621725 D RGD:9068941 20200609 RGD protein:increased expression:kidney, lysosome (rat) PMID:14966137|REF_RGD_ID:7242786 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:736219 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:4362 cervical cancer ISO RGD:736219 D RGD:9068941 20200609 RGD Protein: increased expression PMID:21137014|REF_RGD_ID:6218976 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:4448 macular degeneration ISO RGD:736219 D RGD:9068941 20200609 RGD mRNA: increased expression: white blood cells PMID:19684010|REF_RGD_ID:6478714 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:5419 schizophrenia ISO RGD:736219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:630 genetic disease ISO RGD:736219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736219 D RGD:9068941 20200609 RGD PMID:17330940|REF_RGD_ID:7242762 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9004009 Reperfusion Injury ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10216529 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9004590 Acute Liver Failure ISO RGD:621725 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:15270078|REF_RGD_ID:4891447 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9004626 Ocular Paraneoplastic Syndromes ISO RGD:621725 D RGD:9068941 20200609 RGD PMID:10586938|REF_RGD_ID:10059329 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:621725 D RGD:9068941 20200609 RGD PMID:7569112|REF_RGD_ID:7242788 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9007364 Mouth Neoplasms ISO RGD:736219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:621725 D RGD:9068941 20200609 RGD protein:altered localization:liver (rat) PMID:12376827|REF_RGD_ID:10059389 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9007661 Dwarfism ISO RGD:736219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8818937 Hspa8 heat shock protein family A (Hsp70) member 8 gene DOID:9256 colorectal cancer disease_progression ISO RGD:736219 D RGD:9068941 20200609 RGD protein: increased expression: serum PMID:19578980|REF_RGD_ID:6480104 8818950 CUNH8orf33 chromosome unknown C8orf33 homolog gene DOID:630 genetic disease ISO RGD:1606509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8818962 Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1601858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8818962 Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:1601858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8818962 Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8818962 Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:9008465 SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE ISO RGD:1601858 D RGD:7240710 20200826 OMIM 8818962 Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 gene DOID:9008465 SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE ISO RGD:1601858 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age PMID:25741868|PMID:27599773|PMID:28492532|PMID:31325655|PMID:31705726 8819000 Stip1 stress induced phosphoprotein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:733337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8819000 Stip1 stress induced phosphoprotein 1 gene DOID:1059 intellectual disability ISO RGD:733337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8819000 Stip1 stress induced phosphoprotein 1 gene DOID:1909 melanoma ISO RGD:733337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8819000 Stip1 stress induced phosphoprotein 1 gene DOID:3070 high grade glioma ISO RGD:733337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8819000 Stip1 stress induced phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:733337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819000 Stip1 stress induced phosphoprotein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733337 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33766539 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1352737 D RGD:9068941 20200609 RGD PMID:17618857|REF_RGD_ID:10401056 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:620329 D RGD:9068941 20230720 RGD PMID:24166662|PMID:26394137|REF_RGD_ID:10400900|REF_RGD_ID:329955565 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:0110154 Charcot-Marie-Tooth disease type 2A1 ISO RGD:1352737 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1352737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:10787 premature menopause ISO RGD:620329 D RGD:9068941 20200609 RGD mRNA:decreased:expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:13580 cholestasis ISO RGD:1352737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1352737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:784 chronic kidney disease ISO RGD:620329 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:23045433|REF_RGD_ID:10400847 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:1352737 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:fat pad: PMID:21765106|REF_RGD_ID:6893494 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:620329 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:9007692 Insulin Resistance treatment ISO RGD:620329 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8819018 Dgat2 diacylglycerol O-acyltransferase 2 gene DOID:9452 steatotic liver disease treatment ISO RGD:620329 D RGD:9068941 20200609 RGD PMID:17526931|REF_RGD_ID:10400884 8819051 Znf711 zinc finger protein 711 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 8819051 Znf711 zinc finger protein 711 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8819051 Znf711 zinc finger protein 711 gene DOID:0080859 primary ovarian insufficiency 2B ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 2B 8819051 Znf711 zinc finger protein 711 gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1347410 D RGD:7240710 20180130 OMIM 8819051 Znf711 zinc finger protein 711 gene DOID:0112046 non-syndromic X-linked intellectual disability 97 ISO RGD:1347410 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 97 PMID:10398247|PMID:19377476|PMID:25741868|PMID:27993705|PMID:28454995|PMID:28492532 8819051 Znf711 zinc finger protein 711 gene DOID:1059 intellectual disability ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:10398247|PMID:25741868|PMID:27993705 8819051 Znf711 zinc finger protein 711 gene DOID:12849 autistic disorder ISO RGD:1347410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8819051 Znf711 zinc finger protein 711 gene DOID:630 genetic disease ISO RGD:1347410 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8819051 Znf711 zinc finger protein 711 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1347410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19377476 8819094 Neurod6 neuronal differentiation 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8819094 Neurod6 neuronal differentiation 6 gene DOID:630 genetic disease ISO RGD:1343073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819100 Fpgs folylpolyglutamate synthase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8819100 Fpgs folylpolyglutamate synthase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1346571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 8819100 Fpgs folylpolyglutamate synthase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8819100 Fpgs folylpolyglutamate synthase gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1346571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8819100 Fpgs folylpolyglutamate synthase gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1346571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8819100 Fpgs folylpolyglutamate synthase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8819100 Fpgs folylpolyglutamate synthase gene DOID:630 genetic disease ISO RGD:1346571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819100 Fpgs folylpolyglutamate synthase gene DOID:7148 rheumatoid arthritis ISO RGD:1346571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 8819100 Fpgs folylpolyglutamate synthase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 8819100 Fpgs folylpolyglutamate synthase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1346571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25013492 8819123 Adpgk ADP dependent glucokinase gene DOID:0110225 Brugada syndrome 8 ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 8819123 Adpgk ADP dependent glucokinase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8819123 Adpgk ADP dependent glucokinase gene DOID:2717 Bloom syndrome ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8819123 Adpgk ADP dependent glucokinase gene DOID:3320 Tay-Sachs disease ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8819123 Adpgk ADP dependent glucokinase gene DOID:5419 schizophrenia ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8819123 Adpgk ADP dependent glucokinase gene DOID:630 genetic disease ISO RGD:1353628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819123 Adpgk ADP dependent glucokinase gene DOID:9256 colorectal cancer ISO RGD:1353628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8819152 Hsd17b8 hydroxysteroid 17-beta dehydrogenase 8 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8819152 Hsd17b8 hydroxysteroid 17-beta dehydrogenase 8 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1351353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8819152 Hsd17b8 hydroxysteroid 17-beta dehydrogenase 8 gene DOID:630 genetic disease ISO RGD:1351353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819169 Cep164 centrosomal protein 164 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8819169 Cep164 centrosomal protein 164 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8819169 Cep164 centrosomal protein 164 gene DOID:0080690 RASopathy ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8819169 Cep164 centrosomal protein 164 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8819169 Cep164 centrosomal protein 164 gene DOID:0111123 nephronophthisis 15 ISO RGD:1605084 D RGD:7240710 20180130 OMIM 8819169 Cep164 centrosomal protein 164 gene DOID:0111123 nephronophthisis 15 ISO RGD:1605084 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:16199547|PMID:17576681|PMID:17954613|PMID:22863007|PMID:24033266|PMID:24882706|PMID:25340510|PMID:25741868|PMID:27708425|PMID:28125082|PMID:28492532|PMID:29974258|PMID:31785789|PMID:32055034|PMID:32367404|PMID:32483926|PMID:34013113|PMID:34132027|PMID:34499853|PMID:35112343|PMID:9536098 8819169 Cep164 centrosomal protein 164 gene DOID:0111971 immunodeficiency 18 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8819169 Cep164 centrosomal protein 164 gene DOID:0111972 immunodeficiency 19 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8819169 Cep164 centrosomal protein 164 gene DOID:0111973 immunodeficiency 17 ISO RGD:1605084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8819169 Cep164 centrosomal protein 164 gene DOID:1059 intellectual disability ISO RGD:1605084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8819169 Cep164 centrosomal protein 164 gene DOID:12712 nephronophthisis ISO RGD:1605084 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 8819169 Cep164 centrosomal protein 164 gene DOID:630 genetic disease ISO RGD:1605084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8819169 Cep164 centrosomal protein 164 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1605084 D RGD:9068941 20220317 RGD associated with Chronic Hepatitis C;DNA:SNP: :rs573455 (human) PMID:22004425|REF_RGD_ID:151665169 8819169 Cep164 centrosomal protein 164 gene DOID:8501 fundus dystrophy ISO RGD:1605084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 8819169 Cep164 centrosomal protein 164 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8819169 Cep164 centrosomal protein 164 gene DOID:9007661 Dwarfism ISO RGD:1605084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8819228 Lrr1 leucine rich repeat protein 1 gene DOID:630 genetic disease ISO RGD:1322717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819228 Lrr1 leucine rich repeat protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1322717 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8819228 Lrr1 leucine rich repeat protein 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322717 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8819241 Numa1 nuclear mitotic apparatus protein 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1318746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 8819241 Numa1 nuclear mitotic apparatus protein 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1318746 D RGD:7240710 20180130 OMIM 8819241 Numa1 nuclear mitotic apparatus protein 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1318746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute promyelocytic leukemia PMID:25741868|PMID:28492532 8819241 Numa1 nuclear mitotic apparatus protein 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1318746 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8819241 Numa1 nuclear mitotic apparatus protein 1 gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1318746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 8819241 Numa1 nuclear mitotic apparatus protein 1 gene DOID:1059 intellectual disability ISO RGD:1318746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8819241 Numa1 nuclear mitotic apparatus protein 1 gene DOID:2661 myoepithelioma ISO RGD:1318746 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8819241 Numa1 nuclear mitotic apparatus protein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1318746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8819241 Numa1 nuclear mitotic apparatus protein 1 gene DOID:630 genetic disease ISO RGD:1318746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819281 Gucd1 guanylyl cyclase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1353154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8819281 Gucd1 guanylyl cyclase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1353154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8819281 Gucd1 guanylyl cyclase domain containing 1 gene DOID:630 genetic disease ISO RGD:1353154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819281 Gucd1 guanylyl cyclase domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8819306 Pnrc1 proline rich nuclear receptor coactivator 1 gene DOID:0080600 COVID-19 ISO RGD:1354036 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8819306 Pnrc1 proline rich nuclear receptor coactivator 1 gene DOID:630 genetic disease ISO RGD:1354036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819306 Pnrc1 proline rich nuclear receptor coactivator 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1354036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:0060224 atrial fibrillation ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7886817 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:736061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:736061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:630 genetic disease ISO RGD:736061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:8689 anorexia nervosa ISO RGD:10750 D RGD:9068941 20220825 MouseDO 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9806222 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:9001109 Anorexia ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146954 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:9002554 Tachycardia ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7886817 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8819312 Htr4 5-hydroxytryptamine receptor 4 gene DOID:9007096 Stroke ISO RGD:736061 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7886817 8819323 Naprt nicotinate phosphoribosyltransferase gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1602193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8819323 Naprt nicotinate phosphoribosyltransferase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1602193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8819323 Naprt nicotinate phosphoribosyltransferase gene DOID:4621 holoprosencephaly ISO RGD:1602193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8819323 Naprt nicotinate phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1602193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819341 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:0080163 otulipenia ISO RGD:1602667 D RGD:7240710 20240228 OMIM 8819341 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:0080163 otulipenia ISO RGD:1602667 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA PMID:25741868|PMID:27523608|PMID:27559085|PMID:28492532|PMID:30796585|PMID:30804083|PMID:35170849|PMID:35587511 8819341 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:0080801 autosomal dominant craniometaphyseal dysplasia ISO RGD:1602667 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant PMID:11326272|PMID:11326338|PMID:19449425|PMID:20358596|PMID:25741868|PMID:2712793|PMID:28492532 8819341 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:1059 intellectual disability ISO RGD:1602667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8819341 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:1156 chondrocalcinosis ISO RGD:1602667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 8819341 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:630 genetic disease ISO RGD:1602667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8819341 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8819341 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:9006021 Immunodeficiency 107 ISO RGD:1602667 D RGD:7240710 20240228 OMIM 8819341 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:9006021 Immunodeficiency 107 ISO RGD:1602667 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection PMID:25741868|PMID:27559085|PMID:28492532|PMID:35587511 8819341 Otulin OTU deubiquitinase with linear linkage specificity gene DOID:9006590 Chondrocalcinosis 2 ISO RGD:1602667 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chondrocalcinosis 2 PMID:11326272|PMID:19449425|PMID:25741868|PMID:2712793|PMID:28492532 8819354 Tspo2 translocator protein 2 gene DOID:630 genetic disease ISO RGD:1606125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819364 Lrrc3c leucine rich repeat containing 3C gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:5131999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8819364 Lrrc3c leucine rich repeat containing 3C gene DOID:630 genetic disease ISO RGD:5131999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819380 Dtnb dystrobrevin beta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 8819380 Dtnb dystrobrevin beta gene DOID:630 genetic disease ISO RGD:1319991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819417 Smg6 SMG6 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1320039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819417 Smg6 SMG6 nonsense mediated mRNA decay factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8819446 Ccdc175 coiled-coil domain containing 175 gene DOID:630 genetic disease ISO RGD:1347710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819473 Ptch2 patched 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8819473 Ptch2 patched 2 gene DOID:0050902 medulloblastoma ISO RGD:1604843 D RGD:7240710 20180130 OMIM 8819473 Ptch2 patched 2 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 8819473 Ptch2 patched 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8819473 Ptch2 patched 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8819473 Ptch2 patched 2 gene DOID:13501 Moebius syndrome ISO RGD:1604843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:28492532|PMID:28915250 8819473 Ptch2 patched 2 gene DOID:2120 focal dermal hypoplasia ISO RGD:1604843 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:28492532 8819473 Ptch2 patched 2 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1604843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome PMID:16199547|PMID:17576681|PMID:18285427|PMID:23951062|PMID:25260786|PMID:25741868|PMID:28492532|PMID:28915250|PMID:31945512|PMID:32864857|PMID:33077954|PMID:9536098 8819473 Ptch2 patched 2 gene DOID:2513 basal cell carcinoma ISO RGD:1604843 D RGD:7240710 20230505 OMIM 8819473 Ptch2 patched 2 gene DOID:2513 basal cell carcinoma ISO RGD:1604843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition PMID:25741868|PMID:28492532|PMID:31945512|PMID:9931336 8819473 Ptch2 patched 2 gene DOID:3459 breast carcinoma ISO RGD:1604843 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868|PMID:28492532 8819473 Ptch2 patched 2 gene DOID:630 genetic disease ISO RGD:1604843 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8819473 Ptch2 patched 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604843 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 8819473 Ptch2 patched 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8819521 Morc3 MORC family CW-type zinc finger 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8819521 Morc3 MORC family CW-type zinc finger 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1317400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8819521 Morc3 MORC family CW-type zinc finger 3 gene DOID:630 genetic disease ISO RGD:1317400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819521 Morc3 MORC family CW-type zinc finger 3 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1317400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 8819553 Crabp1 cellular retinoic acid binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1345653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8819553 Crabp1 cellular retinoic acid binding protein 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17438526 8819553 Crabp1 cellular retinoic acid binding protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1345653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16254461 8819553 Crabp1 cellular retinoic acid binding protein 1 gene DOID:630 genetic disease ISO RGD:1345653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819553 Crabp1 cellular retinoic acid binding protein 1 gene DOID:9000058 Keloid ISO RGD:1345653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8819553 Crabp1 cellular retinoic acid binding protein 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1345653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8819553 Crabp1 cellular retinoic acid binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1345653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8819561 Unc5d unc-5 netrin receptor D gene DOID:630 genetic disease ISO RGD:1319479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819579 Rsbn1l round spermatid basic protein 1 like gene DOID:0080600 COVID-19 ISO RGD:1351057 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8819579 Rsbn1l round spermatid basic protein 1 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8819579 Rsbn1l round spermatid basic protein 1 like gene DOID:630 genetic disease ISO RGD:1351057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819579 Rsbn1l round spermatid basic protein 1 like gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1351057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8819597 Znf514 zinc finger protein 514 gene DOID:630 genetic disease ISO RGD:1347182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819607 Ctsh cathepsin H gene DOID:0080322 polycystic kidney disease ISO RGD:2447 D RGD:9068941 20200609 RGD protein:increased expression:kidney proximal tubule PMID:8840269|REF_RGD_ID:5686402 8819607 Ctsh cathepsin H gene DOID:12858 Huntington's disease ISO RGD:735454 D RGD:9068941 20200609 RGD protein:increased expression:caudate nucleus PMID:7561949|REF_RGD_ID:5686393 8819607 Ctsh cathepsin H gene DOID:2377 multiple sclerosis ISO RGD:10423 D RGD:9068941 20200609 RGD PMID:17086443|REF_RGD_ID:5686392 8819607 Ctsh cathepsin H gene DOID:2671 transitional cell carcinoma ISO RGD:735454 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:15183956|REF_RGD_ID:2315615 8819607 Ctsh cathepsin H gene DOID:2717 Bloom syndrome ISO RGD:735454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8819607 Ctsh cathepsin H gene DOID:3068 glioblastoma ISO RGD:735454 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:8640738|REF_RGD_ID:1549417 8819607 Ctsh cathepsin H gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:17583678|REF_RGD_ID:5686391 8819607 Ctsh cathepsin H gene DOID:630 genetic disease ISO RGD:735454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819607 Ctsh cathepsin H gene DOID:9000965 Neoplasm Metastasis ISO RGD:735454 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:12589965|REF_RGD_ID:5686394 8819607 Ctsh cathepsin H gene DOID:9005166 Contusions ISO RGD:2447 D RGD:9068941 20211224 RGD mRNA:increased expression:gastrocnemius (rat) PMID:11788364|REF_RGD_ID:631244 8819607 Ctsh cathepsin H gene DOID:9007980 Sleep Deprivation ISO RGD:2447 D RGD:9068941 20200609 RGD PMID:17027151|REF_RGD_ID:2306498 8819607 Ctsh cathepsin H gene DOID:9119 acute myeloid leukemia ISO RGD:735454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8819607 Ctsh cathepsin H gene DOID:9256 colorectal cancer ISO RGD:735454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8819607 Ctsh cathepsin H gene DOID:9744 type 1 diabetes mellitus ISO RGD:735454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 8819623 Wls Wnt ligand secretion mediator gene DOID:0070473 Zaki syndrome ISO RGD:1605334 D RGD:7240710 20220223 OMIM 8819623 Wls Wnt ligand secretion mediator gene DOID:0070473 Zaki syndrome ISO RGD:1605334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zaki syndrome PMID:25741868|PMID:34587386 8819623 Wls Wnt ligand secretion mediator gene DOID:1059 intellectual disability ISO RGD:1605334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8819623 Wls Wnt ligand secretion mediator gene DOID:630 genetic disease ISO RGD:1605334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819623 Wls Wnt ligand secretion mediator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8819650 Arhgdig Rho GDP dissociation inhibitor gamma gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321818 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8819650 Arhgdig Rho GDP dissociation inhibitor gamma gene DOID:1826 epilepsy ISO RGD:1321818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 8819650 Arhgdig Rho GDP dissociation inhibitor gamma gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8819650 Arhgdig Rho GDP dissociation inhibitor gamma gene DOID:630 genetic disease ISO RGD:1321818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819659 Wnt2 Wnt family member 2 gene DOID:10283 prostate cancer ISO RGD:736431 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:14517837|REF_RGD_ID:727214 8819659 Wnt2 Wnt family member 2 gene DOID:11832 visual epilepsy ISO RGD:621346 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:14625142|REF_RGD_ID:2326231 8819659 Wnt2 Wnt family member 2 gene DOID:12849 autistic disorder ISO RGD:736431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11449391|PMID:19895723 8819659 Wnt2 Wnt family member 2 gene DOID:1612 breast cancer ISO RGD:736431 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:15736421|REF_RGD_ID:2291874 8819659 Wnt2 Wnt family member 2 gene DOID:2871 endometrial carcinoma ISO RGD:736431 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:9099960|REF_RGD_ID:2291875 8819659 Wnt2 Wnt family member 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:736431 D RGD:9068941 20200609 RGD DNA:amplification:breast PMID:7903963|REF_RGD_ID:2291879 8819659 Wnt2 Wnt family member 2 gene DOID:3996 urinary system cancer ISO RGD:736431 D RGD:9068941 20200609 RGD DNA:amplification PMID:8064891|REF_RGD_ID:2291877 8819659 Wnt2 Wnt family member 2 gene DOID:4450 renal cell carcinoma ISO RGD:736431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 8819659 Wnt2 Wnt family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8819659 Wnt2 Wnt family member 2 gene DOID:630 genetic disease ISO RGD:736431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819659 Wnt2 Wnt family member 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736431 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP: :rs4730775(human) PMID:28328801|REF_RGD_ID:14402040 8819659 Wnt2 Wnt family member 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 8819659 Wnt2 Wnt family member 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736431 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863 8819659 Wnt2 Wnt family member 2 gene DOID:9006947 Fibroadenoma ISO RGD:736431 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:8168088|REF_RGD_ID:2291878 8819659 Wnt2 Wnt family member 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:736431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 8819669 Ccdc127 coiled-coil domain containing 127 gene DOID:630 genetic disease ISO RGD:1603363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819676 Tsc22d3 TSC22 domain family member 3 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1605734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8819676 Tsc22d3 TSC22 domain family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8819676 Tsc22d3 TSC22 domain family member 3 gene DOID:0080600 COVID-19 ISO RGD:1605734 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8819676 Tsc22d3 TSC22 domain family member 3 gene DOID:12336 male infertility ISO RGD:1605734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 8819676 Tsc22d3 TSC22 domain family member 3 gene DOID:12849 autistic disorder ISO RGD:1605734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8819676 Tsc22d3 TSC22 domain family member 3 gene DOID:2018 hyperinsulinism ISO RGD:1605734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 8819676 Tsc22d3 TSC22 domain family member 3 gene DOID:2519 testicular disease ISO RGD:1605734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 8819676 Tsc22d3 TSC22 domain family member 3 gene DOID:630 genetic disease ISO RGD:1605734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819676 Tsc22d3 TSC22 domain family member 3 gene DOID:9001981 Weight Loss ISO RGD:1605734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22556341 8819699 Dcun1d5 defective in cullin neddylation 1 domain containing 5 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1601949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 8819699 Dcun1d5 defective in cullin neddylation 1 domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1601949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8819699 Dcun1d5 defective in cullin neddylation 1 domain containing 5 gene DOID:12704 ataxia telangiectasia ISO RGD:1601949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8819699 Dcun1d5 defective in cullin neddylation 1 domain containing 5 gene DOID:630 genetic disease ISO RGD:1601949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819723 Fer1l5 fer-1 like family member 5 gene DOID:1059 intellectual disability ISO RGD:1625097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8819723 Fer1l5 fer-1 like family member 5 gene DOID:5419 schizophrenia ISO RGD:1625097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8819723 Fer1l5 fer-1 like family member 5 gene DOID:630 genetic disease ISO RGD:1625097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819788 Lmod1 leiomodin 1 gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:1316308 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:28292896 8819788 Lmod1 leiomodin 1 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1316308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:28292896 8819788 Lmod1 leiomodin 1 gene DOID:0080682 autosomal dominant familial visceral neuropathy ISO RGD:1316308 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:28292896 8819788 Lmod1 leiomodin 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1316308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8819788 Lmod1 leiomodin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1316308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8819788 Lmod1 leiomodin 1 gene DOID:289 endometriosis ISO RGD:1316308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8819788 Lmod1 leiomodin 1 gene DOID:3393 coronary artery disease ISO RGD:1316308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530674 8819788 Lmod1 leiomodin 1 gene DOID:630 genetic disease ISO RGD:1316308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819788 Lmod1 leiomodin 1 gene DOID:9003331 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 ISO RGD:1316308 D RGD:7240710 20210616 OMIM 8819788 Lmod1 leiomodin 1 gene DOID:9003331 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 ISO RGD:1316308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 PMID:28292896 8819788 Lmod1 leiomodin 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1316308 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8819788 Lmod1 leiomodin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8819795 Rapgefl1 Rap guanine nucleotide exchange factor like 1 gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1347798 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 8819795 Rapgefl1 Rap guanine nucleotide exchange factor like 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1347798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8819795 Rapgefl1 Rap guanine nucleotide exchange factor like 1 gene DOID:10283 prostate cancer ISO RGD:1347798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8819795 Rapgefl1 Rap guanine nucleotide exchange factor like 1 gene DOID:630 genetic disease ISO RGD:1347798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819818 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:0060163 body dysmorphic disorder ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8819818 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:0060224 atrial fibrillation ISO RGD:1319891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8819818 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1319891 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8819818 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:1059 intellectual disability ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8819818 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:10907 microcephaly ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8819818 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:12849 autistic disorder ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 8819818 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:14227 azoospermia ISO RGD:1551284 D RGD:9068941 20220825 MouseDO OMIM:102530 | OMIM:108420 | OMIM:243060 | OMIM:258150 | OMIM:270960 | OMIM:309120 | OMIM:415000 | OMIM:606766 | OMIM:612997 | OMIM:613957 | OMIM:613958 | OMIM:614822 | OMIM:615081 | OMIM:615413 | OMIM:615841 | OMIM:615842 8819818 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:1826 epilepsy ISO RGD:1319891 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8819818 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:1909 melanoma ISO RGD:1319891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8819818 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:630 genetic disease ISO RGD:1319891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819818 Gopc golgi associated PDZ and coiled-coil motif containing gene DOID:9000495 Tremor ISO RGD:1319891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8819832 Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component gene DOID:2717 Bloom syndrome ISO RGD:1602075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8819832 Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component gene DOID:607 paraplegia ISO RGD:1602075 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 8819832 Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1602075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819832 Leo1 LEO1 homolog, Paf1/RNA polymerase II complex component gene DOID:9256 colorectal cancer ISO RGD:1602075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8819848 Usp24 ubiquitin specific peptidase 24 gene DOID:630 genetic disease ISO RGD:1315618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819848 Usp24 ubiquitin specific peptidase 24 gene DOID:9007661 Dwarfism ISO RGD:1315618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8819921 Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 gene DOID:630 genetic disease ISO RGD:1347516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819921 Agpat5 1-acylglycerol-3-phosphate O-acyltransferase 5 gene DOID:9000058 Keloid ISO RGD:1347516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keloid formation PMID:28905881 8819933 Itgb1bp1 integrin subunit beta 1 binding protein 1 gene DOID:0080006 bone development disease ISO RGD:1317220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17567669 8819933 Itgb1bp1 integrin subunit beta 1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1317220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819933 Itgb1bp1 integrin subunit beta 1 binding protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17567669 8819946 Naa40 N-alpha-acetyltransferase 40, NatD catalytic subunit gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8819946 Naa40 N-alpha-acetyltransferase 40, NatD catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1602685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8819946 Naa40 N-alpha-acetyltransferase 40, NatD catalytic subunit gene DOID:3070 high grade glioma ISO RGD:1602685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8819946 Naa40 N-alpha-acetyltransferase 40, NatD catalytic subunit gene DOID:630 genetic disease ISO RGD:1602685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819958 Hopx HOP homeobox gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1603377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 8819958 Hopx HOP homeobox gene DOID:12930 dilated cardiomyopathy ISO RGD:1603377 D RGD:9068941 20230824 RGD mRNA:decreased expression:left ventricle PMID:12920479|REF_RGD_ID:401793745 8819958 Hopx HOP homeobox gene DOID:630 genetic disease ISO RGD:1603377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819958 Hopx HOP homeobox gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603377 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8819963 Galnt6 polypeptide N-acetylgalactosaminyltransferase 6 gene DOID:630 genetic disease ISO RGD:1321517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819983 Mgll monoglyceride lipase gene DOID:0111947 immunodeficiency 21 ISO RGD:734078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8819983 Mgll monoglyceride lipase gene DOID:11476 osteoporosis ISO RGD:734078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8819983 Mgll monoglyceride lipase gene DOID:13938 amenorrhea ISO RGD:734078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8819983 Mgll monoglyceride lipase gene DOID:5082 liver cirrhosis ISO RGD:734078 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:30301768 8819983 Mgll monoglyceride lipase gene DOID:630 genetic disease ISO RGD:734078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8819983 Mgll monoglyceride lipase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:734078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8819983 Mgll monoglyceride lipase gene DOID:9270 alkaptonuria ISO RGD:734078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:25741868|PMID:28492532 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1315452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:25741868|PMID:28492532 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:0070098 oculocutaneous albinism type IV ISO RGD:1315452 D RGD:7240710 20180130 OMIM 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:0070098 oculocutaneous albinism type IV ISO RGD:1315452 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 4 | ClinVar Annotator: match by term: SLC45A2-related condition PMID:11574907|PMID:14070830|PMID:14722913|PMID:14961451|PMID:15565285|PMID:15714523|PMID:16162179|PMID:16868655|PMID:17044855|PMID:17768386|PMID:19865097|PMID:20861488|PMID:21287499|PMID:21458243|PMID:23165166|PMID:24096233|PMID:24617981|PMID:24845642|PMID:25741868|PMID:26573111|PMID:26818737|PMID:27019209|PMID:27706749|PMID:27734839|PMID:28457509|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30019506|PMID:31077556|PMID:31199599|PMID:31229681|PMID:34078970 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:0111068 congenital bile acid synthesis defect 4 ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 PMID:25741868|PMID:28492532 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1315452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578363 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:1909 melanoma ISO RGD:1315452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563784|PMID:21559390 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:2213 hemorrhagic disease ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532|PMID:29345414 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:2513 basal cell carcinoma ISO RGD:1315452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578363 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:303 substance-related disorder ISO RGD:1315452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:630 genetic disease ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24096233|PMID:25741868|PMID:27734839|PMID:28492532 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:8923 skin melanoma ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:15714523|PMID:17044855|PMID:17999355|PMID:18563784|PMID:18683857|PMID:19578363|PMID:28492532 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:18821858|PMID:25741868|PMID:28266639|PMID:28492532|PMID:30868578 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:9006017 Skin/Hair/Eye Pigmentation, Variation In, 5 ISO RGD:1315452 D RGD:7240710 20200506 OMIM 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:9006017 Skin/Hair/Eye Pigmentation, Variation In, 5 ISO RGD:1315452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 5 PMID:15714523|PMID:17044855|PMID:17768386|PMID:17999355|PMID:18463683|PMID:18563784|PMID:18683857|PMID:19578363|PMID:21458243|PMID:24096233|PMID:25741868|PMID:26573111|PMID:27734839|PMID:28492532|PMID:29345414 8820002 Slc45a2 solute carrier family 45 member 2 gene DOID:9008459 Neurogenic Arthrogryposis Multiplex Congenita 4 with Agenesis of the Corpus Callosum ISO RGD:12064380 D RGD:9068941 20230824 OMIA Coat colour, albinism, oculocutaneous type IV PMID:24647637|PMID:25790827|PMID:28737247|PMID:34751460|PMID:35510419|PMID:37277858|PMID:37582787 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:0050117 disease by infectious agent ISO RGD:732184 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:25741868|PMID:28492532 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:0080162 lupus nephritis ISO RGD:732184 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:0080600 COVID-19 ISO RGD:732184 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:732184 D RGD:7240710 20180130 OMIM 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:732184 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive PMID:12590259|PMID:16199547|PMID:16585605|PMID:17576681|PMID:19436109|PMID:20841510|PMID:21714643|PMID:21727188|PMID:22195034|PMID:22208278|PMID:22651901|PMID:22730530|PMID:22847544|PMID:23245795|PMID:23403048|PMID:23534974|PMID:23541320|PMID:23585529|PMID:23709754|PMID:24033266|PMID:24188975|PMID:24239102|PMID:24343863|PMID:25042743|PMID:25326637|PMID:25367169|PMID:25662309|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26467763|PMID:26479788|PMID:26494717|PMID:26513235|PMID:26604104|PMID:26621323|PMID:26732859|PMID:26743090|PMID:26938784|PMID:26948078|PMID:27063510|PMID:27114460|PMID:27117246|PMID:27146670|PMID:27379765|PMID:27577878|PMID:27808400|PMID:28011069|PMID:28161409|PMID:28258222|PMID:28367431|PMID:28427548|PMID:28492532|PMID:28597685|PMID:28601685|PMID:28622416|PMID:28753426|PMID:28815025|PMID:28859974|PMID:29111217|PMID:29317535|PMID:30030262|PMID:30131873|PMID:30442829|PMID:31114772|PMID:31354696|PMID:31362757|PMID:31367980|PMID:31448411|PMID:31677808|PMID:31686315|PMID:32135276|PMID:32506361|PMID:32582194|PMID:32603902|PMID:32888943|PMID:33096415|PMID:33225392|PMID:33679782|PMID:34093558|PMID:34114647|PMID:34718945|PMID:35126392|PMID:35960392|PMID:35976469|PMID:36336768|PMID:9536098 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:0111945 immunodeficiency 31A ISO RGD:732184 D RGD:7240710 20180130 OMIM 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:0111945 immunodeficiency 31A ISO RGD:732184 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency PMID:11452125|PMID:16934001|PMID:17576681|PMID:19436109|PMID:20841510|PMID:21714643|PMID:21727188|PMID:22195034|PMID:22208278|PMID:22573496|PMID:22847544|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25326637|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26479788|PMID:26494717|PMID:26513235|PMID:26604104|PMID:27114460|PMID:28161409|PMID:28258222|PMID:28427548|PMID:28492532|PMID:28753426|PMID:28815025|PMID:30030262|PMID:32135276|PMID:35960392|PMID:9536098 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:0111946 immunodeficiency 31C ISO RGD:732184 D RGD:7240710 20180130 OMIM 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:0111946 immunodeficiency 31C ISO RGD:732184 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome PMID:21714643|PMID:21727188|PMID:22195034|PMID:22730530|PMID:22847544|PMID:23245795|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24188975|PMID:24239102|PMID:24343863|PMID:25042743|PMID:25288569|PMID:25326637|PMID:25367169|PMID:25741868|PMID:26242301|PMID:26255980|PMID:26479788|PMID:26494717|PMID:26604104|PMID:26743090|PMID:27114460|PMID:27379765|PMID:27577878|PMID:28011069|PMID:28161409|PMID:28258222|PMID:28427548|PMID:28492532|PMID:28597685|PMID:28622416|PMID:28753426|PMID:28815025|PMID:30317461|PMID:30442829|PMID:31362757|PMID:31448411|PMID:31677808|PMID:32582194|PMID:32888943|PMID:33679782 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:12155 lymphocytic choriomeningitis exacerbates ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:22496215|REF_RGD_ID:124715469 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:1612 breast cancer ISO RGD:732185 D RGD:9068941 20220825 MouseDO OMIM:114480 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:1612 breast cancer disease_progression ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17868458|REF_RGD_ID:2291892 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:1883 hepatitis C ISO RGD:732184 D RGD:9068941 20210326 RGD protein:increased expression:liver PMID:26216956|REF_RGD_ID:11074283 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:732184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis PMID:21714643|PMID:21727188|PMID:23541320|PMID:23709754|PMID:24033266|PMID:24343863|PMID:25741868|PMID:26255980|PMID:26494717|PMID:26604104|PMID:28161409|PMID:28427548|PMID:28492532|PMID:28815025 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:2154 nephroblastoma ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:16799645|REF_RGD_ID:2291893 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:234 colon adenocarcinoma ISO RGD:732184 D RGD:9068941 20220812 RGD DNA:SNPs:introns: (rs2280232, rs4327257) (human) PMID:22121102|REF_RGD_ID:153323313 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased activity:prostate PMID:9748134|REF_RGD_ID:2290484 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:732185 D RGD:9068941 20220825 MouseDO 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:3314 angiomyolipoma ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:15994429|REF_RGD_ID:2298537 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:lung PMID:15994429|REF_RGD_ID:2298537 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:732184 D RGD:9068941 20200609 RGD protein:increased activity:breast PMID:12374673|REF_RGD_ID:2291894 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:732184 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:3770 pulmonary fibrosis ISO RGD:3771 D RGD:9068941 20200609 RGD PMID:16806015|REF_RGD_ID:1600092 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:4074 pancreatic adenocarcinoma ameliorates ISO RGD:732184 D RGD:9068941 20221027 RGD protein:increased expression:pancreas (human) PMID:24658320|REF_RGD_ID:155630608 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:5082 liver cirrhosis ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17133483 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:5434 scrapie ISO RGD:732185 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17897356|REF_RGD_ID:6483034 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471820 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:21727188|PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:630 genetic disease ISO RGD:732184 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24343863|PMID:25741868|PMID:26479788|PMID:27114460|PMID:28492532|PMID:28753426|PMID:30030262 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22488367 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:7148 rheumatoid arthritis ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:824 periodontitis treatment ISO RGD:732185 D RGD:9068941 20200609 RGD PMID:26825585|REF_RGD_ID:18936995 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9000918 Disease Progression ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22488367 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29147627 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9000998 Brain Injuries ISO RGD:3771 D RGD:9068941 20200609 RGD PMID:21596098|REF_RGD_ID:6483023 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9001276 Failure to Thrive ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11452125 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9001488 Human Influenza ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9002457 Experimental Arthritis ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:macrophage, synovial cell PMID:14674010|REF_RGD_ID:1582346 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15188379 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732185 D RGD:9068941 20200609 RGD PMID:22066025|REF_RGD_ID:6483041 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:17670769|REF_RGD_ID:2291900 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:brain PMID:15262323|REF_RGD_ID:1600103 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9004484 Sepsis ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased activity:liver, lung, small intestine PMID:17067487|REF_RGD_ID:2291905 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9004538 Hearing Loss ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20712533 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:732184 D RGD:9068941 20200609 RGD DNA:transition: ; 2116T>C PMID:11452125|REF_RGD_ID:1600087 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732185 D RGD:9068941 20200609 RGD PMID:11325527|REF_RGD_ID:2291895 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:glomerulus PMID:14678947|REF_RGD_ID:1600105 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9006062 Nervous System Trauma ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased phosphorylation:ganglion PMID:17097800|REF_RGD_ID:1600090 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:732184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16688530 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9006487 Reoviridae Infections ISO RGD:732185 D RGD:9068941 20200609 RGD PMID:17849321|REF_RGD_ID:6483036 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9007661 Dwarfism ISO RGD:732184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:22730530|PMID:23534974|PMID:23541320|PMID:23709754|PMID:24239102|PMID:25042743|PMID:25741868|PMID:26604104|PMID:26743090|PMID:27379765|PMID:27577878|PMID:28492532|PMID:28597685 8820018 Stat1 signal transducer and activator of transcription 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3771 D RGD:9068941 20200609 RGD protein:increased phosphorylation:heart PMID:16935931|REF_RGD_ID:1600091 8820048 Fbh1 F-box DNA helicase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1314839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8820048 Fbh1 F-box DNA helicase 1 gene DOID:10283 prostate cancer ISO RGD:1314839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8820048 Fbh1 F-box DNA helicase 1 gene DOID:5419 schizophrenia ISO RGD:1314839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8820048 Fbh1 F-box DNA helicase 1 gene DOID:630 genetic disease ISO RGD:1314839 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820091 Ptprg protein tyrosine phosphatase receptor type G gene DOID:630 genetic disease ISO RGD:735532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820091 Ptprg protein tyrosine phosphatase receptor type G gene DOID:9000217 Stomach Neoplasms ISO RGD:735532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963294 8820121 Tgm7 transglutaminase 7 gene DOID:2717 Bloom syndrome ISO RGD:1316891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8820121 Tgm7 transglutaminase 7 gene DOID:630 genetic disease ISO RGD:1316891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820121 Tgm7 transglutaminase 7 gene DOID:9256 colorectal cancer ISO RGD:1316891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8820137 Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1322984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8820137 Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8820137 Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:10907 microcephaly ISO RGD:1322984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8820137 Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:630 genetic disease ISO RGD:1322984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820137 Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1322984 D RGD:9068941 20220825 RGD human cells in mouse model PMID:30710422|REF_RGD_ID:153344549 8820137 Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 8820137 Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8820137 Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8820151 Cgrrf1 cell growth regulator with ring finger domain 1 gene DOID:0090043 dystonia 5 ISO RGD:733810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 8820151 Cgrrf1 cell growth regulator with ring finger domain 1 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:733810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 8820151 Cgrrf1 cell growth regulator with ring finger domain 1 gene DOID:630 genetic disease ISO RGD:733810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8820173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1313045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8820173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8820173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:0081097 Rafiq syndrome ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8820173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1313045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8820173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:3652 Leigh disease ISO RGD:1313045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8820173 Gtf3c5 general transcription factor IIIC subunit 5 gene DOID:630 genetic disease ISO RGD:1313045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820198 Ppfia4 PTPRF interacting protein alpha 4 gene DOID:0060224 atrial fibrillation ISO RGD:737078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 8820198 Ppfia4 PTPRF interacting protein alpha 4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:737078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8820198 Ppfia4 PTPRF interacting protein alpha 4 gene DOID:1540 parathyroid carcinoma ISO RGD:737078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8820198 Ppfia4 PTPRF interacting protein alpha 4 gene DOID:630 genetic disease ISO RGD:737078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820198 Ppfia4 PTPRF interacting protein alpha 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8820198 Ppfia4 PTPRF interacting protein alpha 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8820231 Slc5a1 solute carrier family 5 member 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:732146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 8820231 Slc5a1 solute carrier family 5 member 1 gene DOID:630 genetic disease ISO RGD:732146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8820231 Slc5a1 solute carrier family 5 member 1 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:732146 D RGD:7240710 20180130 OMIM 8820231 Slc5a1 solute carrier family 5 member 1 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:732146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption | ClinVar Annotator: match by term: Monosaccharide malabsorption PMID:10036327|PMID:12139397|PMID:14673631|PMID:16199547|PMID:17576681|PMID:17903058|PMID:19167319|PMID:2008213|PMID:20486940|PMID:22314875|PMID:24033266|PMID:24048166|PMID:25741868|PMID:28152538|PMID:28283348|PMID:28492532|PMID:28753187|PMID:30656007|PMID:8563765|PMID:8844006|PMID:9309206|PMID:9536098|PMID:9815014 8820231 Slc5a1 solute carrier family 5 member 1 gene DOID:9002984 Malabsorption Syndromes ISO RGD:732146 D RGD:9068941 20200609 RGD glucose/galactose malabsorption,OMIM:606824;DNA:point mutation:exon:D28N PMID:2008213|REF_RGD_ID:1624257 8820256 Atp8a1 ATPase phospholipid transporting 8A1 gene DOID:630 genetic disease ISO RGD:1320053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820318 Sdad1 SDA1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1353066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820318 Sdad1 SDA1 domain containing 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1353066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8820373 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8820373 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:0080975 intracranial berry aneurysm 12 ISO RGD:1315930 D RGD:7240710 20200226 OMIM 8820373 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:0080975 intracranial berry aneurysm 12 ISO RGD:1315930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 PMID:25741868|PMID:27895300 8820373 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8820373 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:3627 aortic aneurysm ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:25741868|PMID:27895300 8820373 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1315930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820373 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:8725 vascular dementia ISO RGD:1315930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 8820373 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:9008230 Lymphatic Malformation 13 ISO RGD:1315930 D RGD:7240710 20230215 OMIM 8820373 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:9008230 Lymphatic Malformation 13 ISO RGD:1315930 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 13 PMID:25741868|PMID:26036949|PMID:28749478|PMID:30055085|PMID:33569873 8820373 Thsd1 thrombospondin type 1 domain containing 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1315930 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949|PMID:28749478 8820387 Znf622 zinc finger protein 622 gene DOID:630 genetic disease ISO RGD:1319325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820387 Znf622 zinc finger protein 622 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8820400 Bag5 BAG cochaperone 5 gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1321985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 8820400 Bag5 BAG cochaperone 5 gene DOID:0081162 dilated cardiomyopathy 2F ISO RGD:1321985 D RGD:7240710 20220223 OMIM 8820400 Bag5 BAG cochaperone 5 gene DOID:0081162 dilated cardiomyopathy 2F ISO RGD:1321985 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2F PMID:25741868|PMID:35044787 8820400 Bag5 BAG cochaperone 5 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1321985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8820400 Bag5 BAG cochaperone 5 gene DOID:14330 Parkinson's disease ISO RGD:1321985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28348719 8820400 Bag5 BAG cochaperone 5 gene DOID:630 genetic disease ISO RGD:1321985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820415 Slc25a15 solute carrier family 25 member 15 gene DOID:0050720 ornithine translocase deficiency ISO RGD:1322973 D RGD:7240710 20180130 OMIM 8820415 Slc25a15 solute carrier family 25 member 15 gene DOID:0050720 ornithine translocase deficiency ISO RGD:1322973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | ClinVar Annotator: match by term: Ornithine translocase deficiency PMID:10369256|PMID:10805333|PMID:11355015|PMID:11552031|PMID:11668643|PMID:12807890|PMID:14759633|PMID:16199547|PMID:16376511|PMID:16601889|PMID:16940241|PMID:17576681|PMID:17825324|PMID:18376250|PMID:18406340|PMID:18666241|PMID:18978333|PMID:19242930|PMID:22292090|PMID:22649802|PMID:23430880|PMID:24473688|PMID:25741868|PMID:25818551|PMID:25874378|PMID:26589310|PMID:28492532|PMID:29554876|PMID:30187369|PMID:30243302|PMID:31443672|PMID:31589614|PMID:32214227|PMID:32340404|PMID:3407856|PMID:9536098 8820415 Slc25a15 solute carrier family 25 member 15 gene DOID:1059 intellectual disability ISO RGD:1322973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8820415 Slc25a15 solute carrier family 25 member 15 gene DOID:630 genetic disease ISO RGD:1322973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16601889|PMID:19242930|PMID:25741868|PMID:25874378|PMID:26589310|PMID:28492532|PMID:30187369|PMID:30243302 8820415 Slc25a15 solute carrier family 25 member 15 gene DOID:9008972 Hyperammonemia ISO RGD:1322973 D RGD:9068941 20200609 RGD PMID:10369256|PMID:10805333|REF_RGD_ID:1599239|REF_RGD_ID:1599240 8820415 Slc25a15 solute carrier family 25 member 15 gene DOID:9252 amino acid metabolic disorder ISO RGD:1322973 D RGD:9068941 20200609 RGD PMID:10369256|PMID:10805333|REF_RGD_ID:1599239|REF_RGD_ID:1599240 8820415 Slc25a15 solute carrier family 25 member 15 gene DOID:9273 citrullinemia ISO RGD:1322973 D RGD:9068941 20200609 RGD PMID:10369256|PMID:10805333|REF_RGD_ID:1599239|REF_RGD_ID:1599240 8820426 CUNH16orf78 chromosome unknown C16orf78 homolog gene DOID:630 genetic disease ISO RGD:1605880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820435 Icmt isoprenylcysteine carboxyl methyltransferase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603405 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8820435 Icmt isoprenylcysteine carboxyl methyltransferase gene DOID:630 genetic disease ISO RGD:1603405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820435 Icmt isoprenylcysteine carboxyl methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8820444 Ostn osteocrin gene DOID:5419 schizophrenia ISO RGD:1342782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8820444 Ostn osteocrin gene DOID:630 genetic disease ISO RGD:1342782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820454 Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1312455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8820454 Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1312455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 8820454 Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:0111493 combined oxidative phosphorylation deficiency 12 ISO RGD:1312455 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome PMID:25741868 8820454 Gga2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 gene DOID:630 genetic disease ISO RGD:1312455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820474 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:2307455 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Succinate CoQ reductase deficiency PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:33162331 8820474 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:2307455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8820474 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:2307455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8820474 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:2307455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8820474 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:8725 vascular dementia ISO RGD:2307455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19465911 8820474 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:2307455 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:29517769|PMID:33162331 8820474 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:9008405 Mitochondrial Complex II Deficiency Nuclear Type 2 ISO RGD:2307455 D RGD:7240710 20210203 OMIM 8820474 Sdhaf1 succinate dehydrogenase complex assembly factor 1 gene DOID:9008405 Mitochondrial Complex II Deficiency Nuclear Type 2 ISO RGD:2307455 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 PMID:12112045|PMID:16737791|PMID:19465911|PMID:22995659|PMID:25741868|PMID:26642834|PMID:26749241|PMID:28492532|PMID:31130284|PMID:33162331 8820497 Tmem191c transmembrane protein 191C gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1641960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 8820497 Tmem191c transmembrane protein 191C gene DOID:11198 DiGeorge syndrome ISO RGD:1641960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8820497 Tmem191c transmembrane protein 191C gene DOID:12849 autistic disorder ISO RGD:1641960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8820497 Tmem191c transmembrane protein 191C gene DOID:630 genetic disease ISO RGD:1641960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820507 Nhsl1 NHS like 1 gene DOID:630 genetic disease ISO RGD:1349811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820507 Nhsl1 NHS like 1 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1349811 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8820526 Treml2 triggering receptor expressed on myeloid cells like 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1353340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8820526 Treml2 triggering receptor expressed on myeloid cells like 2 gene DOID:630 genetic disease ISO RGD:1353340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820526 Treml2 triggering receptor expressed on myeloid cells like 2 gene DOID:905 Zellweger syndrome ISO RGD:1353340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8820553 Fhip2a FHF complex subunit HOOK interacting protein 2A gene DOID:0050888 syndromic intellectual disability ISO RGD:1314542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 8820553 Fhip2a FHF complex subunit HOOK interacting protein 2A gene DOID:1909 melanoma ISO RGD:1314542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8820553 Fhip2a FHF complex subunit HOOK interacting protein 2A gene DOID:630 genetic disease ISO RGD:1314542 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820578 Cfap100 cilia and flagella associated protein 100 gene DOID:630 genetic disease ISO RGD:1602811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820578 Cfap100 cilia and flagella associated protein 100 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8820578 Cfap100 cilia and flagella associated protein 100 gene DOID:9270 alkaptonuria ISO RGD:1602811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8820600 Fyb1 FYN binding protein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1603714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8820600 Fyb1 FYN binding protein 1 gene DOID:630 genetic disease ISO RGD:1603714 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8820600 Fyb1 FYN binding protein 1 gene DOID:9002574 Thrombocytopenia 3 ISO RGD:1603714 D RGD:7240710 20190315 OMIM 8820600 Fyb1 FYN binding protein 1 gene DOID:9002574 Thrombocytopenia 3 ISO RGD:1603714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 3 PMID:25741868|PMID:25876182 8820600 Fyb1 FYN binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8820626 Ptprq protein tyrosine phosphatase receptor type Q gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 8820626 Ptprq protein tyrosine phosphatase receptor type Q gene DOID:0080269 autosomal dominant nonsyndromic deafness 73 ISO RGD:1345897 D RGD:7240710 20190315 OMIM 8820626 Ptprq protein tyrosine phosphatase receptor type Q gene DOID:0080269 autosomal dominant nonsyndromic deafness 73 ISO RGD:1345897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73 PMID:25741868|PMID:26467025|PMID:29309402 8820626 Ptprq protein tyrosine phosphatase receptor type Q gene DOID:0110529 autosomal recessive nonsyndromic deafness 84A ISO RGD:1345897 D RGD:7240710 20180130 OMIM 8820626 Ptprq protein tyrosine phosphatase receptor type Q gene DOID:0110529 autosomal recessive nonsyndromic deafness 84A ISO RGD:1345897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84 PMID:20346435|PMID:25741868|PMID:26467025 8820626 Ptprq protein tyrosine phosphatase receptor type Q gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1345897 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:28492532 8820626 Ptprq protein tyrosine phosphatase receptor type Q gene DOID:10003 sensorineural hearing loss ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8820626 Ptprq protein tyrosine phosphatase receptor type Q gene DOID:422 congenital structural myopathy ISO RGD:1345897 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:28492532 8820626 Ptprq protein tyrosine phosphatase receptor type Q gene DOID:630 genetic disease ISO RGD:1345897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820626 Ptprq protein tyrosine phosphatase receptor type Q gene DOID:9004538 Hearing Loss ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:30311386 8820626 Ptprq protein tyrosine phosphatase receptor type Q gene DOID:9008681 Deafness ISO RGD:1345897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 8820675 Sntn sentan, cilia apical structure protein gene DOID:630 genetic disease ISO RGD:2306150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820691 Poli DNA polymerase iota gene DOID:1059 intellectual disability ISO RGD:1313103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8820691 Poli DNA polymerase iota gene DOID:630 genetic disease ISO RGD:1313103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820705 Ppp5c protein phosphatase 5 catalytic subunit gene DOID:630 genetic disease ISO RGD:68614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820705 Ppp5c protein phosphatase 5 catalytic subunit gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68615 D RGD:9068941 20200609 RGD PMID:20875921|REF_RGD_ID:8693745 8820722 Aagab alpha and gamma adaptin binding protein gene DOID:0080214 punctate palmoplantar keratoderma type I ISO RGD:1605954 D RGD:7240710 20180130 OMIM 8820722 Aagab alpha and gamma adaptin binding protein gene DOID:0080214 punctate palmoplantar keratoderma type I ISO RGD:1605954 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, punctate type 1A PMID:17576681|PMID:23000146|PMID:23064416|PMID:23563198|PMID:23633024|PMID:24390136|PMID:25741868|PMID:26608363|PMID:28492532|PMID:9536098 8820722 Aagab alpha and gamma adaptin binding protein gene DOID:14004 thoracic aortic aneurysm ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:21778426|PMID:24804794|PMID:28492532 8820722 Aagab alpha and gamma adaptin binding protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8820722 Aagab alpha and gamma adaptin binding protein gene DOID:2717 Bloom syndrome ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8820722 Aagab alpha and gamma adaptin binding protein gene DOID:3390 palmoplantar keratosis ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:25741868 8820722 Aagab alpha and gamma adaptin binding protein gene DOID:630 genetic disease ISO RGD:1605954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8820722 Aagab alpha and gamma adaptin binding protein gene DOID:9256 colorectal cancer ISO RGD:1605954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8820736 Mpc1 mitochondrial pyruvate carrier 1 gene DOID:0080363 mitochondrial pyruvate carrier deficiency ISO RGD:1352706 D RGD:7240710 20180130 OMIM 8820736 Mpc1 mitochondrial pyruvate carrier 1 gene DOID:0080363 mitochondrial pyruvate carrier deficiency ISO RGD:1352706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency PMID:12649063|PMID:22628558|PMID:25741868 8820736 Mpc1 mitochondrial pyruvate carrier 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1352706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 8820736 Mpc1 mitochondrial pyruvate carrier 1 gene DOID:303 substance-related disorder ISO RGD:1352706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8820736 Mpc1 mitochondrial pyruvate carrier 1 gene DOID:630 genetic disease ISO RGD:1352706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8820750 Pard6b par-6 family cell polarity regulator beta gene DOID:0060041 autism spectrum disorder ISO RGD:1317848 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8820750 Pard6b par-6 family cell polarity regulator beta gene DOID:630 genetic disease ISO RGD:1317848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820757 Brms1l BRMS1 like transcriptional repressor gene DOID:630 genetic disease ISO RGD:1314372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820757 Brms1l BRMS1 like transcriptional repressor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314372 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8820774 Slc35a1 solute carrier family 35 member A1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:24033266|PMID:25741868|PMID:28492532 8820774 Slc35a1 solute carrier family 35 member A1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:24033266|PMID:25741868|PMID:28492532 8820774 Slc35a1 solute carrier family 35 member A1 gene DOID:0060275 pontocerebellar hypoplasia type 6 ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy fatal infantile with mitochondrial respiratory chain defects PMID:25741868|PMID:28492532 8820774 Slc35a1 solute carrier family 35 member A1 gene DOID:0070258 congenital disorder of glycosylation type IIf ISO RGD:1322776 D RGD:7240710 20180130 OMIM 8820774 Slc35a1 solute carrier family 35 member A1 gene DOID:0070258 congenital disorder of glycosylation type IIf ISO RGD:1322776 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2F | ClinVar Annotator: match by term: SLC35A1-CDG PMID:15576474|PMID:21864493|PMID:23873973|PMID:24033266|PMID:25552652|PMID:25741868|PMID:28492532|PMID:28856833|PMID:30115659 8820774 Slc35a1 solute carrier family 35 member A1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1322776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 8820774 Slc35a1 solute carrier family 35 member A1 gene DOID:630 genetic disease ISO RGD:1322776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8820794 Top1mt DNA topoisomerase I mitochondrial gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1351494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8820794 Top1mt DNA topoisomerase I mitochondrial gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1351494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8820794 Top1mt DNA topoisomerase I mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1351494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8820794 Top1mt DNA topoisomerase I mitochondrial gene DOID:4621 holoprosencephaly ISO RGD:1351494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8820794 Top1mt DNA topoisomerase I mitochondrial gene DOID:630 genetic disease ISO RGD:1351494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8820867 Homer3 homer scaffold protein 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:731655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8820867 Homer3 homer scaffold protein 3 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:731655 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 8820867 Homer3 homer scaffold protein 3 gene DOID:10126 keratoconus ISO RGD:731655 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 8820867 Homer3 homer scaffold protein 3 gene DOID:630 genetic disease ISO RGD:731655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820867 Homer3 homer scaffold protein 3 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:731655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8820867 Homer3 homer scaffold protein 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:731655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8820898 Tmem116 transmembrane protein 116 gene DOID:630 genetic disease ISO RGD:1603287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820927 Cyth1 cytohesin 1 gene DOID:0060224 atrial fibrillation ISO RGD:736054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8820927 Cyth1 cytohesin 1 gene DOID:630 genetic disease ISO RGD:736054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820952 Znf205 zinc finger protein 205 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8820952 Znf205 zinc finger protein 205 gene DOID:11612 polycystic ovary syndrome ISO RGD:1312095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8820952 Znf205 zinc finger protein 205 gene DOID:1826 epilepsy ISO RGD:1312095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8820952 Znf205 zinc finger protein 205 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8820952 Znf205 zinc finger protein 205 gene DOID:630 genetic disease ISO RGD:1312095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820968 Proz protein Z, vitamin K dependent plasma glycoprotein gene DOID:1247 blood coagulation disease ISO RGD:1318570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein Z deficiency PMID:15626740 8820968 Proz protein Z, vitamin K dependent plasma glycoprotein gene DOID:1247 blood coagulation disease severity ISO RGD:1318571 D RGD:9068941 20200609 RGD PMID:10829076|REF_RGD_ID:1580102 8820968 Proz protein Z, vitamin K dependent plasma glycoprotein gene DOID:13241 Behcet's disease ISO RGD:1318570 D RGD:9068941 20200609 RGD PMID:14507116|REF_RGD_ID:1580692 8820968 Proz protein Z, vitamin K dependent plasma glycoprotein gene DOID:2213 hemorrhagic disease ISO RGD:1318570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8820968 Proz protein Z, vitamin K dependent plasma glycoprotein gene DOID:2222 factor X deficiency ISO RGD:1318570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8820968 Proz protein Z, vitamin K dependent plasma glycoprotein gene DOID:2316 brain ischemia ISO RGD:1318570 D RGD:9068941 20200609 RGD PMID:14671240|REF_RGD_ID:1358564 8820968 Proz protein Z, vitamin K dependent plasma glycoprotein gene DOID:630 genetic disease ISO RGD:1318570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8820968 Proz protein Z, vitamin K dependent plasma glycoprotein gene DOID:9003121 Thromboembolism ISO RGD:1318570 D RGD:9068941 20200609 RGD PMID:12970515|REF_RGD_ID:1580693 8820968 Proz protein Z, vitamin K dependent plasma glycoprotein gene DOID:9003121 Thromboembolism ISO RGD:1318570 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12297123|REF_RGD_ID:1580720 8820968 Proz protein Z, vitamin K dependent plasma glycoprotein gene DOID:9007096 Stroke ISO RGD:1318570 D RGD:9068941 20200609 RGD PMID:15879328|REF_RGD_ID:1580691 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:734409 D RGD:9068941 20200609 RGD protein:decreased expression:vitreous: PMID:22864860|REF_RGD_ID:9685437 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:734409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:206 hereditary multiple exostoses ISO RGD:734409 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:2237 hepatitis ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17850827 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:630 genetic disease ISO RGD:734409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001191 Cadmium Poisoning ISO RGD:69298 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:24361405|REF_RGD_ID:9685430 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69298 D RGD:9068941 20200609 RGD protein:increased activity:serum: PMID:17850827|REF_RGD_ID:9685426 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69298 D RGD:9068941 20200609 RGD PMID:20957682|REF_RGD_ID:9685427 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:69298 D RGD:9068941 20200609 RGD PMID:20392816|REF_RGD_ID:9685429 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9003996 Birth Weight ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23866971 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:734409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69298 D RGD:9068941 20200609 RGD protein:decreased expression:retina: PMID:22864860|REF_RGD_ID:9685437 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69298 D RGD:9068941 20200609 RGD protein:increased activity:serum: PMID:17850827|REF_RGD_ID:9685426 8820980 Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 gene DOID:9008691 Liver Injury ISO RGD:69298 D RGD:9068941 20200609 RGD protein:increased activity:serum: PMID:17850827|REF_RGD_ID:9685426 8821023 Krt79 keratin 79 gene DOID:630 genetic disease ISO RGD:1602275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821036 Scyl3 SCY1 like pseudokinase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8821036 Scyl3 SCY1 like pseudokinase 3 gene DOID:630 genetic disease ISO RGD:1603625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821036 Scyl3 SCY1 like pseudokinase 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8821036 Scyl3 SCY1 like pseudokinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8821070 Rpl18 ribosomal protein L18 gene DOID:0111896 Diamond-Blackfan anemia 18 ISO RGD:733647 D RGD:7240710 20190315 OMIM 8821070 Rpl18 ribosomal protein L18 gene DOID:0111896 Diamond-Blackfan anemia 18 ISO RGD:733647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 PMID:28280134 8821070 Rpl18 ribosomal protein L18 gene DOID:630 genetic disease ISO RGD:733647 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8821070 Rpl18 ribosomal protein L18 gene DOID:9000217 Stomach Neoplasms ISO RGD:733647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8821070 Rpl18 ribosomal protein L18 gene DOID:9000918 Disease Progression ISO RGD:733647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8821092 Hmgb4 high mobility group box 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8821092 Hmgb4 high mobility group box 4 gene DOID:630 genetic disease ISO RGD:1606732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:2049575|PMID:21086191|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25846194|PMID:27011056|PMID:27964749|PMID:28492532|PMID:28748566|PMID:30374176 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:0050827 rheumatic heart disease ISO RGD:71029 D RGD:9068941 20230202 RGD mRNA:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:0050851 glomerulosclerosis ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:20610530|REF_RGD_ID:7257557 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:0050855 renal fibrosis ISO RGD:732584 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23224993|REF_RGD_ID:7257551 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:737225 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25741868 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:0111944 immunodeficiency 31B ISO RGD:737225 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:10763 hypertension ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11682445 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:11372 megacolon ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:11664 nephrosclerosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:12932 endomyocardial fibrosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11300427 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:737225 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:737225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:18272325|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:24033266|PMID:24036952|PMID:24055113|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:27011056|PMID:27888582|PMID:27964749|PMID:28492532|PMID:28748566|PMID:29192238|PMID:30115950|PMID:30374176|PMID:30837697|PMID:31141158|PMID:8514866|PMID:9036918|PMID:9399899 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:13619 extrahepatic cholestasis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:13948 bladder neck obstruction treatment ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:23313213|REF_RGD_ID:7257549 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:16199547|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19344236|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:23148498|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24922459|PMID:24951259|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27306637|PMID:27888582|PMID:27964749|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29543232|PMID:29590070|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30374176|PMID:30379966|PMID:30793832|PMID:30919682|PMID:31075413|PMID:31126764|PMID:31531849|PMID:31719132|PMID:7695699|PMID:8218237|PMID:8514866|PMID:8990011|PMID:9536098 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19344236|PMID:19424605|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21984974|PMID:22001912|PMID:22019127|PMID:2235526|PMID:23148498|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24922459|PMID:24951259|PMID:25503501|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27888582|PMID:27964749|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28748566|PMID:29590070|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30374176|PMID:30379966|PMID:31075413|PMID:31531849|PMID:31719132|PMID:33282382|PMID:7695699|PMID:8218237|PMID:8514866|PMID:8990011|PMID:9536098 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27153395|PMID:27168972|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29485843|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30793832|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:33628804|PMID:34047934|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30793832|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33282382|PMID:33628804|PMID:33726816|PMID:34047934|PMID:35699227|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:737225 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:1352273|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:1780712|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30793832|PMID:30896870|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31833208|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33125268|PMID:33282382|PMID:33628804|PMID:33726816|PMID:34047934|PMID:35092149|PMID:35699227|PMID:36103205|PMID:36977837|PMID:37042257|PMID:37086723|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14018 alcoholic liver cirrhosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:20648054|PMID:22696272|PMID:23587214|PMID:24922459|PMID:28492532 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14756 vascular type Ehlers-Danlos syndrome ISO RGD:737225 D RGD:7240710 20180620 OMIM 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14756 vascular type Ehlers-Danlos syndrome ISO RGD:737225 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:12131463|PMID:12488462|PMID:1352273|PMID:16199547|PMID:16751282|PMID:17053184|PMID:17251678|PMID:17576681|PMID:18043893|PMID:18272325|PMID:19011090|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:20052764|PMID:2049575|PMID:20518783|PMID:21086191|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22713205|PMID:23148498|PMID:23234825|PMID:23293852|PMID:2349939|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:24951259|PMID:25149929|PMID:25503501|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26854089|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27888582|PMID:27964749|PMID:28035354|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28655553|PMID:28748566|PMID:29192238|PMID:29309923|PMID:29346445|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:30793832|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31531849|PMID:31600821|PMID:31719132|PMID:31903434|PMID:32483363|PMID:33087929|PMID:33125268|PMID:33282382|PMID:33726816|PMID:34047934|PMID:35092149|PMID:35699227|PMID:36103205|PMID:36977837|PMID:37042257|PMID:37086723|PMID:7665911|PMID:7695699|PMID:8098182|PMID:8218237|PMID:8514866|PMID:8680408|PMID:8881656|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9399899|PMID:9536098 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type PMID:25741868|PMID:25758994|PMID:26854089|PMID:28087566|PMID:28492532|PMID:29590070|PMID:30087447|PMID:31075413|PMID:31531849 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:1826 epilepsy ISO RGD:737225 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:2018 hyperinsulinism ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:3627 aortic aneurysm ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm PMID:24055113|PMID:25637381|PMID:25741868|PMID:28492532 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:3770 pulmonary fibrosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26817844 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:732584 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome; PMID:31838832|REF_RGD_ID:30309204 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:409 liver disease ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11738102 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:418 systemic scleroderma ISO RGD:732584 D RGD:9068941 20220825 MouseDO OMIM:181750 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:4195 hyperglycemia ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:5082 liver cirrhosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11167689|PMID:15787813|PMID:16679477|PMID:1880254|PMID:2566230 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:5199 ureteral obstruction ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17164399 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:520 aortic disease ISO RGD:737225 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:10706896|PMID:18272325|PMID:19344236|PMID:24033266|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:31447099|PMID:7695699|PMID:8218237 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:5419 schizophrenia ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:57 aortic valve insufficiency ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:5844 myocardial infarction treatment ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:25636075|REF_RGD_ID:11041598 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:630 genetic disease ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1556139|PMID:16199547|PMID:17576681|PMID:24922459|PMID:25741868|PMID:27153395|PMID:28492532|PMID:30379966|PMID:9536098 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:2049575|PMID:21086191|PMID:21984974|PMID:22001912|PMID:24033266|PMID:24036952|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25776230|PMID:25834947|PMID:25846194|PMID:26017485|PMID:26332594|PMID:27011056|PMID:27888582|PMID:27964749|PMID:28492532|PMID:28748566|PMID:30115950|PMID:30374176 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:783 end stage renal disease ISO RGD:737225 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I1205V (human) PMID:19424605|REF_RGD_ID:7257553 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9000058 Keloid ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9000784 Fibrosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388698 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9000808 Hypercholesterolemia ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21852083 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome ISO RGD:737225 D RGD:7240710 20190315 OMIM 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome ISO RGD:737225 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:11577371|PMID:12131463|PMID:17576681|PMID:18272325|PMID:19344236|PMID:19455184|PMID:2049575|PMID:21086191|PMID:21984974|PMID:2235526|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24922459|PMID:25205403|PMID:25637381|PMID:25741868|PMID:25758994|PMID:25834947|PMID:25846194|PMID:26017485|PMID:26332594|PMID:27011056|PMID:27964749|PMID:28258187|PMID:28492532|PMID:28742248|PMID:28748566|PMID:29192238|PMID:29650765|PMID:30374176|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31719132|PMID:33125268|PMID:36103205|PMID:7695699|PMID:8218237|PMID:9050868|PMID:9536098 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9000955 Acute Otitis Media IEP D RGD:11556224|PMID:10453785 20161028 RGD 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:737225 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:10051163|PMID:10706896|PMID:10923041|PMID:10928898|PMID:11359405|PMID:11577371|PMID:12131463|PMID:12488462|PMID:12694234|PMID:12786757|PMID:1352273|PMID:1357232|PMID:1370809|PMID:1496983|PMID:1556139|PMID:1568754|PMID:1619632|PMID:16199547|PMID:1672129|PMID:16751282|PMID:16863833|PMID:17053184|PMID:17122455|PMID:17224388|PMID:17251678|PMID:17576681|PMID:1757960|PMID:1772601|PMID:17728513|PMID:18043893|PMID:18272325|PMID:18389341|PMID:1895316|PMID:19011090|PMID:19248182|PMID:19344236|PMID:1939638|PMID:19424605|PMID:19444361|PMID:19477391|PMID:19695909|PMID:1998337|PMID:19993915|PMID:2002056|PMID:20052764|PMID:2049575|PMID:20518783|PMID:20648054|PMID:21086191|PMID:2145268|PMID:21520333|PMID:21533953|PMID:21637106|PMID:21984974|PMID:22001912|PMID:22019127|PMID:22038052|PMID:22065459|PMID:2235526|PMID:2243125|PMID:22492385|PMID:22610159|PMID:22647446|PMID:22696272|PMID:22713205|PMID:23052746|PMID:23148498|PMID:23234825|PMID:23293852|PMID:2349939|PMID:23587214|PMID:2365710|PMID:24033266|PMID:24036952|PMID:24055113|PMID:24399159|PMID:24650746|PMID:24922459|PMID:2492273|PMID:24932165|PMID:24951259|PMID:25149929|PMID:25205403|PMID:25326637|PMID:25355833|PMID:25503501|PMID:25525159|PMID:25526469|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25758994|PMID:25776230|PMID:2583342|PMID:25834947|PMID:25846194|PMID:25848751|PMID:25944730|PMID:26017485|PMID:26188975|PMID:26332594|PMID:26333736|PMID:26497932|PMID:26854089|PMID:27011056|PMID:2710295|PMID:27146836|PMID:27153395|PMID:27168972|PMID:27306637|PMID:27488172|PMID:27611364|PMID:2771024|PMID:27888582|PMID:27964749|PMID:28035354|PMID:2808425|PMID:28087566|PMID:28166811|PMID:28258187|PMID:2834369|PMID:28349240|PMID:28492532|PMID:28655553|PMID:28742248|PMID:28748566|PMID:29192238|PMID:29216800|PMID:29309923|PMID:29323927|PMID:29346445|PMID:29381997|PMID:29510914|PMID:29543232|PMID:29590070|PMID:29650765|PMID:29778910|PMID:29790871|PMID:2981879|PMID:29907982|PMID:29940997|PMID:30087447|PMID:30115950|PMID:30122538|PMID:30129429|PMID:30374176|PMID:30379966|PMID:30474650|PMID:30675029|PMID:3076851|PMID:30793832|PMID:30837697|PMID:30919682|PMID:30999998|PMID:31075413|PMID:31126764|PMID:31141158|PMID:31447099|PMID:31531849|PMID:31575845|PMID:31600821|PMID:3162228|PMID:31719132|PMID:31903434|PMID:3204406|PMID:32483363|PMID:33087929|PMID:33125268|PMID:33282382|PMID:33726816|PMID:34047934|PMID:35092149|PMID:35699227|PMID:36103205|PMID:36977837|PMID:37042257|PMID:37086723|PMID:37171638|PMID:6477831|PMID:6507506|PMID:7230200|PMID:7581395|PMID:7665911|PMID:7695699|PMID:7749417|PMID:7912131|PMID:8098182|PMID:8218237|PMID:8320698|PMID:8477261|PMID:8514866|PMID:8664902|PMID:8680408|PMID:8881656|PMID:8884076|PMID:8990011|PMID:9036918|PMID:9143932|PMID:9147870|PMID:9399899|PMID:9536098|PMID:9546243|PMID:9841712 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:737225 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:17576681|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11788567|PMID:25380136 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9001665 Aneurysm ISO RGD:737225 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS20+1G>A (human) PMID:2349939|REF_RGD_ID:1300382 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9003139 Cardiac Fibrosis ISO RGD:71029 D RGD:9068941 20230225 RGD protein:increased expression:blood serum (rat) PMID:27318893|REF_RGD_ID:156430318 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9004283 Transplant Rejection ISO RGD:737225 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20150539|REF_RGD_ID:7248773 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9004563 Maxillofacial Abnormalities ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:10373016|REF_RGD_ID:704391 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181017 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9005890 Disproportionate Tall Stature ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:732584 D RGD:9068941 20230601 RGD PMID:24920753|REF_RGD_ID:329845564 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9006325 Ventral Hernia treatment ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:26578432|REF_RGD_ID:11041579 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9006827 Lung Reperfusion Injury ISO RGD:732584 D RGD:9068941 20220915 RGD mRNA:increased expression:lung (mouse) PMID:34238924|REF_RGD_ID:153350155 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9006836 Contracture treatment ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:26097527|REF_RGD_ID:11041578 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16679477 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:737225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Annuloaortic ectasia PMID:19344236|PMID:24922459|PMID:25758994|PMID:28492532|PMID:7695699|PMID:8218237 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:737225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:71029 D RGD:9068941 20200609 RGD PMID:20836762|REF_RGD_ID:7257556 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9452 steatotic liver disease ISO RGD:737225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15787813 8821097 Col3a1 collagen type III alpha 1 chain gene DOID:9970 obesity ISO RGD:71029 D RGD:9068941 20240208 RGD mRNA:increased expression:kidney (rat) PMID:28746409|REF_RGD_ID:401965413 8821159 Stk38 serine/threonine kinase 38 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1319806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8821159 Stk38 serine/threonine kinase 38 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 8821159 Stk38 serine/threonine kinase 38 gene DOID:630 genetic disease ISO RGD:1319806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821186 Limch1 LIM and calponin homology domains 1 gene DOID:1790 malignant mesothelioma ISO RGD:1604823 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8821186 Limch1 LIM and calponin homology domains 1 gene DOID:303 substance-related disorder ISO RGD:1604823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8821186 Limch1 LIM and calponin homology domains 1 gene DOID:630 genetic disease ISO RGD:1604823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821186 Limch1 LIM and calponin homology domains 1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1604823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8821238 Acot7 acyl-CoA thioesterase 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8821238 Acot7 acyl-CoA thioesterase 7 gene DOID:630 genetic disease ISO RGD:733878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821238 Acot7 acyl-CoA thioesterase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8821254 Hesx1 HESX homeobox 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1353119 D RGD:7240710 20200115 OMIM 8821254 Hesx1 HESX homeobox 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1353119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence | ClinVar Annotator: match by term: Septooptic dysplasia, mild PMID:10599689|PMID:11136712|PMID:11748154|PMID:14557462|PMID:16199547|PMID:16940453|PMID:17148560|PMID:17315526|PMID:17576681|PMID:18852528|PMID:19093031|PMID:21270112|PMID:21325470|PMID:22466334|PMID:23465708|PMID:24703149|PMID:25741868|PMID:25910213|PMID:26781211|PMID:27000987|PMID:2700987|PMID:27013732|PMID:27343026|PMID:28332357|PMID:28396770|PMID:28492532|PMID:30888394|PMID:31022718|PMID:31395954|PMID:32483926|PMID:32796691|PMID:32870266|PMID:33098107|PMID:33451138|PMID:34906519|PMID:8696006|PMID:9536098|PMID:9620767 8821254 Hesx1 HESX homeobox 1 gene DOID:13938 amenorrhea ISO RGD:1353119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:21325470|PMID:23465708|PMID:24703149|PMID:25741868|PMID:28492532|PMID:32870266 8821254 Hesx1 HESX homeobox 1 gene DOID:630 genetic disease ISO RGD:1353119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11136712|PMID:17315526|PMID:17576681|PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:27000987|PMID:28492532|PMID:30266296|PMID:32483926|PMID:33098107|PMID:9536098|PMID:9620767 8821254 Hesx1 HESX homeobox 1 gene DOID:9002446 Combined Pituitary Hormone Deficiency 5 ISO RGD:1353119 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 5 PMID:11136712|PMID:14561704|PMID:16940453|PMID:17148560|PMID:18852528|PMID:28492532|PMID:31022718|PMID:32483926|PMID:33098107|PMID:33451138 8821254 Hesx1 HESX homeobox 1 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1353119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8821254 Hesx1 HESX homeobox 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1353119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:21325470|PMID:23465708|PMID:24703149|PMID:25741868|PMID:28492532|PMID:32870266 8821254 Hesx1 HESX homeobox 1 gene DOID:9406 hypopituitarism ISO RGD:1558586 D RGD:9068941 20220825 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 8821262 Khdrbs1 KH RNA binding domain containing, signal transduction associated 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:734417 D RGD:9068941 20230330 RGD ApoE knockout mice PMID:30529164|REF_RGD_ID:243048424 8821262 Khdrbs1 KH RNA binding domain containing, signal transduction associated 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:734416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8821262 Khdrbs1 KH RNA binding domain containing, signal transduction associated 1 gene DOID:630 genetic disease ISO RGD:734416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821282 Ttc3 tetratricopeptide repeat domain 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8821282 Ttc3 tetratricopeptide repeat domain 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1318550 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8821282 Ttc3 tetratricopeptide repeat domain 3 gene DOID:1826 epilepsy ISO RGD:1318550 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8821282 Ttc3 tetratricopeptide repeat domain 3 gene DOID:630 genetic disease ISO RGD:1318550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821282 Ttc3 tetratricopeptide repeat domain 3 gene DOID:9003713 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis ISO RGD:1318550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corticobasal syndrome PMID:25741868 8821333 Snap91 synaptosome associated protein 91 gene DOID:0111953 immunodeficiency 23 ISO RGD:731271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 8821333 Snap91 synaptosome associated protein 91 gene DOID:10652 Alzheimer's disease ISO RGD:731271 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus molecular layer,hippocampus,entorhinal, tempocampal corteces: PMID:20847448|REF_RGD_ID:13506238 8821333 Snap91 synaptosome associated protein 91 gene DOID:10652 Alzheimer's disease ISO RGD:735275 D RGD:9068941 20200609 RGD denntate gyrus, hippocampus, entorhinal cortex PMID:20847448|REF_RGD_ID:13506238 8821333 Snap91 synaptosome associated protein 91 gene DOID:3525 middle cerebral artery infarction ISO RGD:69276 D RGD:9068941 20200609 RGD protein:increased degradation:brain PMID:19240038|REF_RGD_ID:13461853 8821333 Snap91 synaptosome associated protein 91 gene DOID:630 genetic disease ISO RGD:731271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821372 Znf688 zinc finger protein 688 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8821372 Znf688 zinc finger protein 688 gene DOID:630 genetic disease ISO RGD:1602068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821383 Nudt3 nudix hydrolase 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1320933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8821383 Nudt3 nudix hydrolase 3 gene DOID:630 genetic disease ISO RGD:1320933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821393 Trip4 thyroid hormone receptor interactor 4 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1315680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8821393 Trip4 thyroid hormone receptor interactor 4 gene DOID:2717 Bloom syndrome ISO RGD:1315680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8821393 Trip4 thyroid hormone receptor interactor 4 gene DOID:630 genetic disease ISO RGD:1315680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8821393 Trip4 thyroid hormone receptor interactor 4 gene DOID:9006286 Congenital Muscular Dystrophy, Davignon-Chauveau Type ISO RGD:1315680 D RGD:7240710 20190315 OMIM 8821393 Trip4 thyroid hormone receptor interactor 4 gene DOID:9006286 Congenital Muscular Dystrophy, Davignon-Chauveau Type ISO RGD:1315680 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type PMID:25741868|PMID:27008887|PMID:28492532|PMID:31794073 8821393 Trip4 thyroid hormone receptor interactor 4 gene DOID:9007140 Spinal Muscular Atrophy with Congenital Bone Fractures 1 ISO RGD:1315680 D RGD:7240710 20190315 OMIM 8821393 Trip4 thyroid hormone receptor interactor 4 gene DOID:9007140 Spinal Muscular Atrophy with Congenital Bone Fractures 1 ISO RGD:1315680 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1 | ClinVar Annotator: match by term: TRIP4-related condition PMID:25741868|PMID:26924529|PMID:28492532 8821393 Trip4 thyroid hormone receptor interactor 4 gene DOID:9256 colorectal cancer ISO RGD:1315680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8821423 Erich4 glutamate rich 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8821423 Erich4 glutamate rich 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8821423 Erich4 glutamate rich 4 gene DOID:2340 craniosynostosis ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8821423 Erich4 glutamate rich 4 gene DOID:630 genetic disease ISO RGD:2299179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821423 Erich4 glutamate rich 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8821423 Erich4 glutamate rich 4 gene DOID:9269 maple syrup urine disease ISO RGD:2299179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8821435 Ptpn3 protein tyrosine phosphatase non-receptor type 3 gene DOID:10283 prostate cancer ISO RGD:1322781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8821435 Ptpn3 protein tyrosine phosphatase non-receptor type 3 gene DOID:630 genetic disease ISO RGD:1322781 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8821435 Ptpn3 protein tyrosine phosphatase non-receptor type 3 gene DOID:9775 diastolic heart failure ISO RGD:1322781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8821472 Rhoh ras homolog family member H gene DOID:0060019 coronin-1A deficiency ISO RGD:1316925 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis PMID:25741868|PMID:28492532 8821472 Rhoh ras homolog family member H gene DOID:630 genetic disease ISO RGD:1316925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8821472 Rhoh ras homolog family member H gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1316925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8821472 Rhoh ras homolog family member H gene DOID:9001570 Epidermodysplasia Verruciformis 4 ISO RGD:1316925 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 PMID:22850876|PMID:25741868|PMID:28492532 8821472 Rhoh ras homolog family member H gene DOID:9001570 Epidermodysplasia Verruciformis 4 susceptibility ISO RGD:1316925 D RGD:7240710 20190502 OMIM 8821489 Man2a1 mannosidase alpha class 2A member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8821489 Man2a1 mannosidase alpha class 2A member 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:735706 D RGD:9068941 20220825 MouseDO OMIM:105600 | OMIM:224100 | OMIM:224120 | OMIM:613673 | OMIM:615631 8821489 Man2a1 mannosidase alpha class 2A member 1 gene DOID:630 genetic disease ISO RGD:735705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821489 Man2a1 mannosidase alpha class 2A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8821489 Man2a1 mannosidase alpha class 2A member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8821489 Man2a1 mannosidase alpha class 2A member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735705 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8821489 Man2a1 mannosidase alpha class 2A member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:735706 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8821515 Ypel5 yippee like 5 gene DOID:630 genetic disease ISO RGD:1320113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821532 Lama3 laminin subunit alpha 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1345784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 8821532 Lama3 laminin subunit alpha 3 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:10366601|PMID:11810295|PMID:12915477|PMID:12943669|PMID:15373767|PMID:16199547|PMID:16473856|PMID:16971478|PMID:17362460|PMID:17576681|PMID:22434185|PMID:23869449|PMID:24033266|PMID:25363238|PMID:25525159|PMID:25741868|PMID:26635394|PMID:27375110|PMID:27827380|PMID:28087116|PMID:28492532|PMID:33274474|PMID:7633458|PMID:8530087|PMID:8618022|PMID:8824879|PMID:8983017|PMID:9536098 8821532 Lama3 laminin subunit alpha 3 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:24033266|PMID:25363238|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532 8821532 Lama3 laminin subunit alpha 3 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1345784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 8821532 Lama3 laminin subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:1345784 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8821532 Lama3 laminin subunit alpha 3 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1345784 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:10366601|PMID:11810295|PMID:12915477|PMID:15538630|PMID:16473856|PMID:17362460|PMID:17916201|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532 8821532 Lama3 laminin subunit alpha 3 gene DOID:4123 nail disease ISO RGD:1345784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12915477 8821532 Lama3 laminin subunit alpha 3 gene DOID:5409 lung small cell carcinoma ISO RGD:1345784 D RGD:9068941 20200609 RGD DNA:hyper-methylation:promoter: PMID:12855645|REF_RGD_ID:13793369 8821532 Lama3 laminin subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1345784 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8821532 Lama3 laminin subunit alpha 3 gene DOID:8549 chronic ulcer of skin ISO RGD:1345784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12915477 8821532 Lama3 laminin subunit alpha 3 gene DOID:9000850 Junctional Epidermolysis Bullosa 1A, Intermediate ISO RGD:1345784 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532 8821532 Lama3 laminin subunit alpha 3 gene DOID:9001145 Junctional Epidermolysis Bullosa 1B, Severe ISO RGD:1345784 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:25525159|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532|PMID:33274474 8821532 Lama3 laminin subunit alpha 3 gene DOID:9001245 Junctional Epidermolysis Bullosa 2A, Intermediate ISO RGD:1345784 D RGD:7240710 20220608 OMIM 8821532 Lama3 laminin subunit alpha 3 gene DOID:9001245 Junctional Epidermolysis Bullosa 2A, Intermediate ISO RGD:1345784 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate PMID:11810295|PMID:17362460|PMID:25741868 8821532 Lama3 laminin subunit alpha 3 gene DOID:9001600 Wounds and Injuries ISO RGD:1345784 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15541073 8821532 Lama3 laminin subunit alpha 3 gene DOID:9005030 Junctional Epidermolysis Bullosa 2B, Severe ISO RGD:1345784 D RGD:7240710 20220608 OMIM 8821532 Lama3 laminin subunit alpha 3 gene DOID:9005030 Junctional Epidermolysis Bullosa 2B, Severe ISO RGD:1345784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe PMID:10366601|PMID:11810295|PMID:12915477|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:25741868|PMID:27827380|PMID:28087116|PMID:28492532|PMID:7633458|PMID:8530087|PMID:8586427|PMID:8618022|PMID:8824879|PMID:8983017 8821532 Lama3 laminin subunit alpha 3 gene DOID:9007903 Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous ISO RGD:1345784 D RGD:7240710 20180130 OMIM 8821532 Lama3 laminin subunit alpha 3 gene DOID:9007903 Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous ISO RGD:1345784 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome PMID:10366601|PMID:11810295|PMID:12915477|PMID:16199547|PMID:16473856|PMID:17362460|PMID:17576681|PMID:22434185|PMID:23869449|PMID:24033266|PMID:25363238|PMID:25741868|PMID:26635394|PMID:27827380|PMID:28087116|PMID:28492532|PMID:35314946|PMID:7633458|PMID:8530087|PMID:8618022|PMID:8824879|PMID:8983017|PMID:9536098 8821564 Fez1 fasciculation and elongation protein zeta 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8821564 Fez1 fasciculation and elongation protein zeta 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8821564 Fez1 fasciculation and elongation protein zeta 1 gene DOID:14330 Parkinson's disease ISO RGD:619708 D RGD:9068941 20200609 RGD PMID:23888906|REF_RGD_ID:13208826 8821564 Fez1 fasciculation and elongation protein zeta 1 gene DOID:5419 schizophrenia ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8821564 Fez1 fasciculation and elongation protein zeta 1 gene DOID:630 genetic disease ISO RGD:732377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821564 Fez1 fasciculation and elongation protein zeta 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8821564 Fez1 fasciculation and elongation protein zeta 1 gene DOID:9007661 Dwarfism ISO RGD:732377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8821617 Stk10 serine/threonine kinase 10 gene DOID:630 genetic disease ISO RGD:733000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821617 Stk10 serine/threonine kinase 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8821648 Acadsb acyl-CoA dehydrogenase short/branched chain gene DOID:10907 microcephaly ISO RGD:735869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8821648 Acadsb acyl-CoA dehydrogenase short/branched chain gene DOID:12849 autistic disorder ISO RGD:735869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17883863 8821648 Acadsb acyl-CoA dehydrogenase short/branched chain gene DOID:1826 epilepsy ISO RGD:735869 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Seizure PMID:17945527|PMID:20547083|PMID:25741868|PMID:28492532|PMID:30626930|PMID:30730842|PMID:32778825|PMID:34297361|PMID:36147814 8821648 Acadsb acyl-CoA dehydrogenase short/branched chain gene DOID:2340 craniosynostosis ISO RGD:735869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 8821648 Acadsb acyl-CoA dehydrogenase short/branched chain gene DOID:630 genetic disease ISO RGD:735869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15615815|PMID:17945527|PMID:20547083|PMID:25741868|PMID:28492532|PMID:30730842 8821648 Acadsb acyl-CoA dehydrogenase short/branched chain gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:735869 D RGD:7240710 20180130 OMIM 8821648 Acadsb acyl-CoA dehydrogenase short/branched chain gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:735869 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:10832746|PMID:11013134|PMID:12837870|PMID:15615815|PMID:16199547|PMID:16317551|PMID:17576681|PMID:17945527|PMID:20547083|PMID:23712021|PMID:25741868|PMID:26284228|PMID:28492532|PMID:30626930|PMID:30730842|PMID:31555323|PMID:31785789|PMID:32778825|PMID:34297361|PMID:36147814|PMID:9536098 8821678 Enpp4 ectonucleotide pyrophosphatase/phosphodiesterase 4 gene DOID:630 genetic disease ISO RGD:1318608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821700 Txnl1 thioredoxin like 1 gene DOID:630 genetic disease ISO RGD:1354026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821720 Ctcfl CCCTC-binding factor like gene DOID:630 genetic disease ISO RGD:1313529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821738 Gon7 GON7 subunit of KEOPS complex gene DOID:0080054 achondrogenesis type IA ISO RGD:1346081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8821738 Gon7 GON7 subunit of KEOPS complex gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1346081 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome PMID:25741868|PMID:31481669 8821738 Gon7 GON7 subunit of KEOPS complex gene DOID:630 genetic disease ISO RGD:1346081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821738 Gon7 GON7 subunit of KEOPS complex gene DOID:9001247 Galloway-Mowat Syndrome 9 ISO RGD:1346081 D RGD:7240710 20211201 OMIM 8821738 Gon7 GON7 subunit of KEOPS complex gene DOID:9001247 Galloway-Mowat Syndrome 9 ISO RGD:1346081 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 PMID:25741868|PMID:31481669 8821738 Gon7 GON7 subunit of KEOPS complex gene DOID:9003293 Li-Campeau Syndrome ISO RGD:1346081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Li-Campeau syndrome PMID:33340455 8821751 Lgi3 leucine rich repeat LGI family member 3 gene DOID:630 genetic disease ISO RGD:1322345 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8821751 Lgi3 leucine rich repeat LGI family member 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8821751 Lgi3 leucine rich repeat LGI family member 3 gene DOID:9008164 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS ISO RGD:1322345 D RGD:7240710 20221214 OMIM 8821751 Lgi3 leucine rich repeat LGI family member 3 gene DOID:9008164 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS ISO RGD:1322345 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | ClinVar Annotator: match by term: Peripheral nerve hyperexcitability syndrome PMID:25741868|PMID:29269699|PMID:35948005 8821781 Ccn3 cellular communication network factor 3 gene DOID:0080600 COVID-19 ISO RGD:732996 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8821781 Ccn3 cellular communication network factor 3 gene DOID:10534 stomach cancer severity ISO RGD:732996 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 8821781 Ccn3 cellular communication network factor 3 gene DOID:10591 pre-eclampsia ISO RGD:732996 D RGD:9068941 20200609 RGD protein:decreased expression:placenta (human) PMID:16675545|REF_RGD_ID:1580971 8821781 Ccn3 cellular communication network factor 3 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:732996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8821781 Ccn3 cellular communication network factor 3 gene DOID:206 hereditary multiple exostoses ISO RGD:732996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 8821781 Ccn3 cellular communication network factor 3 gene DOID:2843 long QT syndrome ISO RGD:732996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8821781 Ccn3 cellular communication network factor 3 gene DOID:630 genetic disease ISO RGD:732996 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821811 Efcab5 EF-hand calcium binding domain 5 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1606096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8821811 Efcab5 EF-hand calcium binding domain 5 gene DOID:630 genetic disease ISO RGD:1606096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821874 Prss58 serine protease 58 gene DOID:630 genetic disease ISO RGD:1606966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821874 Prss58 serine protease 58 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1606966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 8821885 Gins3 GINS complex subunit 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604313 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8821885 Gins3 GINS complex subunit 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604313 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8821885 Gins3 GINS complex subunit 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604313 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8821885 Gins3 GINS complex subunit 3 gene DOID:630 genetic disease ISO RGD:1604313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821895 Xpo4 exportin 4 gene DOID:0110253 cataract 14 multiple types ISO RGD:1323777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 8821895 Xpo4 exportin 4 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1323777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 8821895 Xpo4 exportin 4 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 8821895 Xpo4 exportin 4 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 8821895 Xpo4 exportin 4 gene DOID:14693 Clouston syndrome ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 8821895 Xpo4 exportin 4 gene DOID:2121 ectodermal dysplasia ISO RGD:1323777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 8821895 Xpo4 exportin 4 gene DOID:630 genetic disease ISO RGD:1323777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821926 Slc19a2 solute carrier family 19 member 2 gene DOID:0090117 thiamine-responsive megaloblastic anemia syndrome ISO RGD:1318484 D RGD:7240710 20180130 OMIM 8821926 Slc19a2 solute carrier family 19 member 2 gene DOID:0090117 thiamine-responsive megaloblastic anemia syndrome ISO RGD:1318484 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia PMID:10391221|PMID:10391222|PMID:10391223|PMID:10874303|PMID:10978358|PMID:12065289|PMID:12435857|PMID:14994241|PMID:16199547|PMID:17132746|PMID:17463047|PMID:18414213|PMID:19643445|PMID:24355766|PMID:25741868|PMID:26467025|PMID:28004468|PMID:28492532|PMID:29450569|PMID:33649974|PMID:33816400|PMID:9399900|PMID:9856490 8821926 Slc19a2 solute carrier family 19 member 2 gene DOID:13382 megaloblastic anemia ISO RGD:1318484 D RGD:9068941 20200609 RGD PMID:10391221|REF_RGD_ID:1599325 8821926 Slc19a2 solute carrier family 19 member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8821926 Slc19a2 solute carrier family 19 member 2 gene DOID:630 genetic disease ISO RGD:1318484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8821926 Slc19a2 solute carrier family 19 member 2 gene DOID:784 chronic kidney disease ISO RGD:1308611 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, heart (rat) PMID:21149507|REF_RGD_ID:7327184 8821926 Slc19a2 solute carrier family 19 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8821926 Slc19a2 solute carrier family 19 member 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1318484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8821926 Slc19a2 solute carrier family 19 member 2 gene DOID:9008681 Deafness ISO RGD:1318484 D RGD:9068941 20200609 RGD PMID:10391221|REF_RGD_ID:1599325 8821926 Slc19a2 solute carrier family 19 member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8821926 Slc19a2 solute carrier family 19 member 2 gene DOID:9351 diabetes mellitus ISO RGD:1318484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 8821945 Cskmt citrate synthase lysine methyltransferase gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:2304141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 8821945 Cskmt citrate synthase lysine methyltransferase gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2304141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8821945 Cskmt citrate synthase lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:2304141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8821945 Cskmt citrate synthase lysine methyltransferase gene DOID:630 genetic disease ISO RGD:2304141 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8821952 Milr1 mast cell immunoglobulin like receptor 1 gene DOID:0070446 mitochondrial DNA depletion syndrome 16 ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 16 (hepatic type) PMID:25741868|PMID:28492532 8821952 Milr1 mast cell immunoglobulin like receptor 1 gene DOID:0070447 mitochondrial DNA depletion syndrome 16B ISO RGD:1605249 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) PMID:25741868|PMID:28492532|PMID:31778857 8821952 Milr1 mast cell immunoglobulin like receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1605249 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8821952 Milr1 mast cell immunoglobulin like receptor 1 gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:1605249 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 PMID:25741868|PMID:27592148|PMID:28492532|PMID:30157269 8821952 Milr1 mast cell immunoglobulin like receptor 1 gene DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1605249 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 PMID:16685652|PMID:19513667|PMID:21138766|PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:27592148|PMID:28078310|PMID:28492532|PMID:29625556|PMID:30157269 8821952 Milr1 mast cell immunoglobulin like receptor 1 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:21555342|PMID:25741868|PMID:28492532 8821952 Milr1 mast cell immunoglobulin like receptor 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 8821952 Milr1 mast cell immunoglobulin like receptor 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21555342|PMID:22155748|PMID:22176657|PMID:23197651|PMID:23596069|PMID:24033266|PMID:25741868|PMID:26123486|PMID:26251896|PMID:27535533|PMID:28492532|PMID:31286721 8821952 Milr1 mast cell immunoglobulin like receptor 1 gene DOID:630 genetic disease ISO RGD:1605249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8821952 Milr1 mast cell immunoglobulin like receptor 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1605249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute hepatic failure PMID:25741868|PMID:27592148|PMID:28492532|PMID:30157269 8821965 Prpf31 pre-mRNA processing factor 31 gene DOID:0110408 retinitis pigmentosa 11 ISO RGD:1314103 D RGD:7240710 20180130 OMIM 8821965 Prpf31 pre-mRNA processing factor 31 gene DOID:0110408 retinitis pigmentosa 11 ISO RGD:1314103 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 11 PMID:11545739|PMID:12923864|PMID:16199547|PMID:16708387|PMID:16799052|PMID:17325180|PMID:17412961|PMID:17576681|PMID:18317597|PMID:19293337|PMID:19618371|PMID:20861475|PMID:23288994|PMID:23950152|PMID:25356976|PMID:25525159|PMID:25741868|PMID:26781568|PMID:26872967|PMID:28192796|PMID:28492532|PMID:29847639|PMID:29957067|PMID:30582903|PMID:31047384|PMID:31054281|PMID:31690835|PMID:31892304|PMID:32014492|PMID:32037395|PMID:33085829|PMID:33090715|PMID:33946315|PMID:34148116|PMID:34906470|PMID:36317469|PMID:5764686|PMID:8004108|PMID:8025041|PMID:8808602|PMID:9345108|PMID:9536098 8821965 Prpf31 pre-mRNA processing factor 31 gene DOID:10584 retinitis pigmentosa ISO RGD:1314103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25741868|PMID:28041643|PMID:28166811|PMID:28492532|PMID:29847639|PMID:30337596|PMID:30582903|PMID:30718709|PMID:30921587|PMID:33095315 8821965 Prpf31 pre-mRNA processing factor 31 gene DOID:10584 retinitis pigmentosa ISO RGD:1314103 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29260190|PMID:29847639|PMID:30337596|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:33090715|PMID:33095315|PMID:34906470 8821965 Prpf31 pre-mRNA processing factor 31 gene DOID:10584 retinitis pigmentosa ISO RGD:1314103 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29260190|PMID:29847639|PMID:30337596|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:31814694|PMID:33090715|PMID:33095315|PMID:34906470|PMID:36909829 8821965 Prpf31 pre-mRNA processing factor 31 gene DOID:14791 Leber congenital amaurosis ISO RGD:1314103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:30718709 8821965 Prpf31 pre-mRNA processing factor 31 gene DOID:630 genetic disease ISO RGD:1314103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8821965 Prpf31 pre-mRNA processing factor 31 gene DOID:8501 fundus dystrophy ISO RGD:1314103 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11545739|PMID:16199547|PMID:16799052|PMID:16917484|PMID:17325180|PMID:17576681|PMID:18317597|PMID:20861475|PMID:23288994|PMID:23343310|PMID:23950152|PMID:24265693|PMID:24664689|PMID:25356976|PMID:25525159|PMID:25741868|PMID:26872967|PMID:27208204|PMID:28041643|PMID:28492532|PMID:29847639|PMID:29957067|PMID:30543658|PMID:30582903|PMID:30718709|PMID:31047384|PMID:31054281|PMID:31892304|PMID:32014492|PMID:32037395|PMID:33090715|PMID:33851411|PMID:33946315|PMID:34906470|PMID:8808602|PMID:9536098 8821998 Slc6a13 solute carrier family 6 member 13 gene DOID:630 genetic disease ISO RGD:733725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8821998 Slc6a13 solute carrier family 6 member 13 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:733725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8822029 Trpc7 transient receptor potential cation channel subfamily C member 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349355 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8822029 Trpc7 transient receptor potential cation channel subfamily C member 7 gene DOID:1324 lung cancer susceptibility ISO RGD:1349355 D RGD:9068941 20220616 RGD DNA:SNPs:: (rs11748198) (human) PMID:27617218|REF_RGD_ID:152995362 8822029 Trpc7 transient receptor potential cation channel subfamily C member 7 gene DOID:630 genetic disease ISO RGD:1349355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822029 Trpc7 transient receptor potential cation channel subfamily C member 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8822029 Trpc7 transient receptor potential cation channel subfamily C member 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349355 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8822051 Egr4 early growth response 4 gene DOID:0050473 Alstrom syndrome ISO RGD:735817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 8822051 Egr4 early growth response 4 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:735817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8822051 Egr4 early growth response 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:2546 D RGD:9068941 20200609 RGD PMID:22645329|REF_RGD_ID:10395314 8822051 Egr4 early growth response 4 gene DOID:543 dystonia ISO RGD:735817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8822051 Egr4 early growth response 4 gene DOID:630 genetic disease ISO RGD:735817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822051 Egr4 early growth response 4 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:735817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8822062 Stpg4 sperm-tail PG-rich repeat containing 4 gene DOID:14671 multiple intestinal atresia ISO RGD:1602960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:28492532 8822062 Stpg4 sperm-tail PG-rich repeat containing 4 gene DOID:3883 Lynch syndrome ISO RGD:1602960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:28492532|PMID:30374176 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1313282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:10488 imperforate anus ISO RGD:1313282 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Imperforate anus 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:10534 stomach cancer ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA:increased expression:stomach (human) PMID:26549737|REF_RGD_ID:11538454 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:2043 hepatitis B ISO RGD:1313282 D RGD:9068941 20220204 RGD associated with hepatocellular carcinoma;mRNA:increased expression:liver, blood serum (human) PMID:21196414|REF_RGD_ID:151347673 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1313282 D RGD:9068941 20220204 RGD protein:increased expression:lung (human) PMID:33510968|REF_RGD_ID:151347681 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1313282 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:28306189|REF_RGD_ID:151347678 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA, protein:increased expression:lung (human) PMID:22824148|REF_RGD_ID:151347677 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:630 genetic disease ISO RGD:1313282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1313282 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:21196414|REF_RGD_ID:151347673 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1313282 D RGD:9068941 20220204 RGD human recombinant gene and cell line in a mouse model PMID:27010469|REF_RGD_ID:151347674 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1313282 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:31922225|REF_RGD_ID:151347839 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1313282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA:increased expression:colorectum (human) PMID:25602366|REF_RGD_ID:151347676 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA:splicing variants:colorectum (human) PMID:29138007|REF_RGD_ID:151347675 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1313282 D RGD:9068941 20220204 RGD mRNA, protein:increased expression:colorectum, lymph node, blood serum (human) PMID:27882171|REF_RGD_ID:151347679 8822074 Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1313282 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:20077526|REF_RGD_ID:151347680 8822107 Heatr6 HEAT repeat containing 6 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606785 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8822107 Heatr6 HEAT repeat containing 6 gene DOID:11372 megacolon ISO RGD:1606785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8822107 Heatr6 HEAT repeat containing 6 gene DOID:630 genetic disease ISO RGD:1606785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822132 Slc25a32 solute carrier family 25 member 32 gene DOID:0111590 Cohen syndrome ISO RGD:1605933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8822132 Slc25a32 solute carrier family 25 member 32 gene DOID:10283 prostate cancer ISO RGD:1605933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 8822132 Slc25a32 solute carrier family 25 member 32 gene DOID:630 genetic disease ISO RGD:1605933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8822132 Slc25a32 solute carrier family 25 member 32 gene DOID:9006878 Exercise Intolerance ISO RGD:1605933 D RGD:7240710 20190315 OMIM 8822132 Slc25a32 solute carrier family 25 member 32 gene DOID:9006878 Exercise Intolerance ISO RGD:1605933 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Exercise intolerance, riboflavin-responsive PMID:25741868|PMID:26933868|PMID:28492532 8822158 Bsnd barttin CLCNK type accessory subunit beta gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:19646679|PMID:21541222|PMID:25741868|PMID:28492532|PMID:30303587 8822158 Bsnd barttin CLCNK type accessory subunit beta gene DOID:0110145 Bartter disease type 4A ISO RGD:1346772 D RGD:7240710 20180130 OMIM 8822158 Bsnd barttin CLCNK type accessory subunit beta gene DOID:0110145 Bartter disease type 4A ISO RGD:1346772 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A PMID:11687798|PMID:11734858|PMID:12111250|PMID:12574213|PMID:16199547|PMID:16328537|PMID:16572343|PMID:16583241|PMID:16773427|PMID:16935888|PMID:17954364|PMID:18776122|PMID:19025784|PMID:19096086|PMID:19646679|PMID:21269598|PMID:21541222|PMID:21865213|PMID:23967202|PMID:24033266|PMID:24828792|PMID:24902942|PMID:24949729|PMID:25741868|PMID:26467025|PMID:26537508|PMID:26857709|PMID:28012523|PMID:28492532|PMID:28555110|PMID:29254190|PMID:29942493|PMID:29986705|PMID:30174009|PMID:30303587|PMID:30311386|PMID:30733538|PMID:32608139|PMID:33348466|PMID:35628451|PMID:35709690|PMID:9463315 8822158 Bsnd barttin CLCNK type accessory subunit beta gene DOID:10003 sensorineural hearing loss ISO RGD:1346772 D RGD:9068941 20200609 RGD Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon PMID:11687798|REF_RGD_ID:1600603 8822158 Bsnd barttin CLCNK type accessory subunit beta gene DOID:445 Bartter disease ISO RGD:1346772 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome PMID:11687798|PMID:11734858|PMID:12111250|PMID:12574213|PMID:16199547|PMID:16328537|PMID:16572343|PMID:16583241|PMID:16773427|PMID:16935888|PMID:17954364|PMID:18776122|PMID:19025784|PMID:19096086|PMID:19646679|PMID:21269598|PMID:21541222|PMID:21865213|PMID:23967202|PMID:24033266|PMID:24902942|PMID:24949729|PMID:25741868|PMID:26467025|PMID:26537508|PMID:26857709|PMID:28012523|PMID:28492532|PMID:28555110|PMID:29254190|PMID:29986705|PMID:30174009|PMID:30303587|PMID:30733538|PMID:32608139|PMID:33348466|PMID:35628451|PMID:35709690|PMID:9463315 8822158 Bsnd barttin CLCNK type accessory subunit beta gene DOID:630 genetic disease ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 8822158 Bsnd barttin CLCNK type accessory subunit beta gene DOID:9001996 Sensorineural Deafness with Mild Renal Dysfunction ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction PMID:11687798|PMID:19646679|PMID:21541222|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386 8822158 Bsnd barttin CLCNK type accessory subunit beta gene DOID:9004538 Hearing Loss ISO RGD:1346772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11687798|PMID:19646679|PMID:25741868|PMID:28492532|PMID:30311386 8822158 Bsnd barttin CLCNK type accessory subunit beta gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:1346772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:28492532|PMID:30269829 8822172 Pstk phosphoseryl-tRNA kinase gene DOID:2340 craniosynostosis ISO RGD:1350761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 8822172 Pstk phosphoseryl-tRNA kinase gene DOID:630 genetic disease ISO RGD:1350761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822187 Rraga Ras related GTP binding A gene DOID:630 genetic disease ISO RGD:1349440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822193 Vps26a VPS26, retromer complex component A gene DOID:630 genetic disease ISO RGD:1343417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822193 Vps26a VPS26, retromer complex component A gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1343417 D RGD:9068941 20231026 RGD DNA:SNP:: (rs1802295) (Human) PMID:28821857|REF_RGD_ID:401850599 8822193 Vps26a VPS26, retromer complex component A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 8822193 Vps26a VPS26, retromer complex component A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1343417 D RGD:9068941 20231026 RGD associated with Environmental Illness;DNA:SNP:: (rs12242953) (human) PMID:27281273|REF_RGD_ID:401850598 8822208 CUNH16orf86 chromosome unknown C16orf86 homolog gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1604692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 8822208 CUNH16orf86 chromosome unknown C16orf86 homolog gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8822208 CUNH16orf86 chromosome unknown C16orf86 homolog gene DOID:630 genetic disease ISO RGD:1604692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0050157 cryptogenic organizing pneumonia ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:lung, lymphocyte (human) PMID:21144722|REF_RGD_ID:5131112 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1298224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0050851 glomerulosclerosis ISO RGD:731571 D RGD:9068941 20200609 RGD associated with Hypertension PMID:23389459|REF_RGD_ID:7245475 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1298224 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1298224 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0080162 lupus nephritis treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:22846145|REF_RGD_ID:7245541 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0080162 lupus nephritis treatment ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:22674120|REF_RGD_ID:7245544 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0080745 polymyositis severity ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11055823|REF_RGD_ID:8661747 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:0080855 Parkinsonism treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:21831964|REF_RGD_ID:7247422 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:10325 silicosis ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:11208652|REF_RGD_ID:5131150 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:10457 Legionnaires' disease ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:18838275|REF_RGD_ID:5131445 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:10591 pre-eclampsia ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21505354|REF_RGD_ID:5131211 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:10652 Alzheimer's disease ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:20110607|REF_RGD_ID:13825249 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:10652 Alzheimer's disease ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid: PMID:21978728|REF_RGD_ID:13825268 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:1074 kidney failure severity ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Neoplasms, Plasma Cell PMID:9650354|REF_RGD_ID:7245537 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:11394 adult respiratory distress syndrome ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:19916860|REF_RGD_ID:5131423 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:11394 adult respiratory distress syndrome ISO RGD:731571 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:21512145|REF_RGD_ID:5131206 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:11159038|REF_RGD_ID:5131147 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:11446 sciatic neuropathy ISO RGD:621238 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglia (rat) PMID:11240015|REF_RGD_ID:5130963 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:11476 osteoporosis ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:11832 visual epilepsy ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:1205 allergic disease ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:12849 autistic disorder ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16139734 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731571 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21221075|REF_RGD_ID:7245511 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:13406 pulmonary sarcoidosis ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21508170|REF_RGD_ID:5131275 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:1380 endometrial cancer ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:8920779|REF_RGD_ID:5131439 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:14069 cerebral malaria ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:12228317|REF_RGD_ID:5131158 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:14330 Parkinson's disease ISO RGD:731571 D RGD:9068941 20200609 RGD mRNA:decreased expression:midbrain, dopaminergic neuron (mouse) PMID:19780901|REF_RGD_ID:5130931 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:1520 colon carcinoma ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:1655258|REF_RGD_ID:5131434 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2316 brain ischemia ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2394 ovarian cancer disease_progression ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19825522|REF_RGD_ID:2315115 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:289 endometriosis ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21481092|REF_RGD_ID:5131251 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:289 endometriosis treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:21741153|REF_RGD_ID:7247423 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2921 glomerulonephritis ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:15841213|PMID:22449555|REF_RGD_ID:7245530|REF_RGD_ID:7245546 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2921 glomerulonephritis treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:23400706|REF_RGD_ID:7245540 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2986 IgA glomerulonephritis ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16209246|REF_RGD_ID:6907414 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:9844059|REF_RGD_ID:6909132 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:3021 acute kidney failure ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Acute Lung Injury PMID:18074478|REF_RGD_ID:5128661 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:3021 acute kidney failure ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Shock, Septic;protein:increased expression:serum PMID:12500222|REF_RGD_ID:7245534 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:3021 acute kidney failure ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:12865254|REF_RGD_ID:7245532 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:21037022|REF_RGD_ID:5131154 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:399 tuberculosis ISO RGD:1298224 D RGD:9068941 20200609 RGD DNA:snp:3' utr:g.*215C>T rs3397 (human) PMID:20007930|REF_RGD_ID:5131209 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:4450 renal cell carcinoma ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:20566746|REF_RGD_ID:7245512 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:5082 liver cirrhosis ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:5199 ureteral obstruction ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:19541932|REF_RGD_ID:7245519 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:5199 ureteral obstruction ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:10564241|REF_RGD_ID:7245536 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:5327 retinal detachment ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:21402953|REF_RGD_ID:5131257 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:552 pneumonia ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:552 pneumonia ISO RGD:1298224 D RGD:9068941 20200609 RGD Idiopathic Pneumonia Syndrome PMID:18664626|REF_RGD_ID:5131448 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:552 pneumonia susceptibility ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung; DNA:snp:cds:p.M196R rs1061622 (human) PMID:20811626|REF_RGD_ID:5131286 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:5844 myocardial infarction ISO RGD:621238 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:left ventricle myocardium (rat) PMID:21362018|REF_RGD_ID:5130892 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:6000 congestive heart failure ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21135513|REF_RGD_ID:5131262 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:630 genetic disease ISO RGD:1298224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:635 acquired immunodeficiency syndrome ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:8548330|REF_RGD_ID:12904035 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:6543 acne susceptibility ISO RGD:1298224 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.M196R(human) PMID:20861605|REF_RGD_ID:8553023 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:7147 ankylosing spondylitis ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:21317434|REF_RGD_ID:5131280 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:783 end stage renal disease ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:22266663|REF_RGD_ID:7245510 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:841 extrinsic allergic alveolitis ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage (human) PMID:15929959|REF_RGD_ID:5131148 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:8541 Sezary's disease ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258847 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:8691 mycosis fungoides ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258847 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:874 bacterial pneumonia ISO RGD:731571 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse) PMID:19842848|REF_RGD_ID:5131429 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:8778 Crohn's disease ISO RGD:621238 D RGD:9068941 20200609 RGD protein:increased expression:large intestine mucosa (rat) PMID:21359923|REF_RGD_ID:5130893 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9000053 Headache ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21036476|REF_RGD_ID:5131274 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:621238 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid body, jugular ganglion, nodose ganglion (rat) PMID:21195213|REF_RGD_ID:5130879 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9001472 Nasal Polyps ISO RGD:1298224 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal polyp (human) PMID:19095579|REF_RGD_ID:5131442 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9001553 Spinal Cord Compression ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21224756|REF_RGD_ID:5130917 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9001553 Spinal Cord Compression ISO RGD:621238 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:21224756|REF_RGD_ID:5130917 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9001579 Neurogenic Inflammation ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9001916 Fetal Death ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Endotoxemia; human protein in rat model PMID:21187445|REF_RGD_ID:5131261 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:serum PMID:19073786|REF_RGD_ID:2311357 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:16408124|REF_RGD_ID:7245529 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002165 Diabetic Nephropathies onset ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:22266664|REF_RGD_ID:7245476 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002211 Hyperalgesia ISO RGD:621238 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22652595|REF_RGD_ID:8661750 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002211 Hyperalgesia ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:18463260|REF_RGD_ID:5130960 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002457 Experimental Arthritis ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21463515|REF_RGD_ID:5131255 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:21690068|PMID:23052485|REF_RGD_ID:7245941|REF_RGD_ID:8661761 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9002589 Bone Fractures ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15071724 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis severity ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum, granulocyte PMID:19690440|REF_RGD_ID:7245518 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9004283 Transplant Rejection ISO RGD:1298224 D RGD:9068941 20200609 RGD PMID:19298452|REF_RGD_ID:7245520 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9004283 Transplant Rejection ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:19298452|REF_RGD_ID:7245520 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9005372 Inflammation ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21081778|REF_RGD_ID:5131265 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21481476|REF_RGD_ID:5131250 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:1298224 D RGD:9068941 20200609 RGD human protein in rat model PMID:21057386|REF_RGD_ID:5131270 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9006617 Fatigue ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12140350|REF_RGD_ID:8661748 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9007194 Sciatica treatment ISO RGD:621238 D RGD:9068941 20200609 RGD PMID:22425187|REF_RGD_ID:7245944 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9007271 Hypoalbuminemia ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15044820 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:621238 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15164724|REF_RGD_ID:1580295 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9008569 Bronchial Spasm ISO RGD:1298224 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:19340514|REF_RGD_ID:5131441 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1298224 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M196R (human) PMID:11607787|REF_RGD_ID:7245571 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1298224 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8393677|REF_RGD_ID:7245539 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11882518 8822221 Tnfrsf1b TNF receptor superfamily member 1B gene DOID:9970 obesity ISO RGD:1298224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11782876 8822235 LOC102026574 olfactory receptor 6S1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1348726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8822235 LOC102026574 olfactory receptor 6S1 gene DOID:630 genetic disease ISO RGD:1348726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822238 Folr1 folate receptor alpha gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1346305 D RGD:7240710 20180130 OMIM 8822238 Folr1 folate receptor alpha gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1346305 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:16199547|PMID:17576681|PMID:18842806|PMID:19732866|PMID:20018644|PMID:20683905|PMID:21752681|PMID:21937992|PMID:22586289|PMID:22695967|PMID:24091540|PMID:24556562|PMID:25741868|PMID:26467025|PMID:27328863|PMID:27535533|PMID:27781028|PMID:27884173|PMID:28054128|PMID:28492532|PMID:29661558|PMID:29961769|PMID:34008900|PMID:9536098 8822238 Folr1 folate receptor alpha gene DOID:0080074 neural tube defect ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15800851 8822238 Folr1 folate receptor alpha gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1346305 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8822238 Folr1 folate receptor alpha gene DOID:1059 intellectual disability ISO RGD:1346305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8822238 Folr1 folate receptor alpha gene DOID:1682 congenital heart disease ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17286298 8822238 Folr1 folate receptor alpha gene DOID:1826 epilepsy ISO RGD:1346305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:21937992|PMID:25741868|PMID:27535533|PMID:27884173|PMID:28492532|PMID:29661558|PMID:29961769 8822238 Folr1 folate receptor alpha gene DOID:3347 osteosarcoma ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17473184 8822238 Folr1 folate receptor alpha gene DOID:480 movement disease ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 8822238 Folr1 folate receptor alpha gene DOID:630 genetic disease ISO RGD:1346305 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16453285|PMID:18842806|PMID:20683905|PMID:21937992|PMID:22586289|PMID:22695967|PMID:23851396|PMID:23934049|PMID:25274592|PMID:25741868|PMID:26467025|PMID:27458733|PMID:27535533|PMID:27781028|PMID:27884173|PMID:28492532|PMID:29661558|PMID:29961769|PMID:7578066|PMID:9063895 8822238 Folr1 folate receptor alpha gene DOID:9001793 Generalized Epilepsy ISO RGD:1346305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 8822238 Folr1 folate receptor alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17466904 8822238 Folr1 folate receptor alpha gene DOID:9002928 Colonic Neoplasms ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15705887|PMID:18926688 8822238 Folr1 folate receptor alpha gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 8822238 Folr1 folate receptor alpha gene DOID:9005835 Congenital Abnormalities ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20235221 8822238 Folr1 folate receptor alpha gene DOID:9008514 Psychomotor Disorders ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732866 8822238 Folr1 folate receptor alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15800851 8822238 Folr1 folate receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:0050771 pheochromocytoma ISO RGD:1345704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10323245|PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18414213|PMID:18551016|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31492822|PMID:32035780|PMID:32741965|PMID:33219105|PMID:33748650|PMID:34012134|PMID:34906457|PMID:35626065|PMID:35938916|PMID:8981955|PMID:9536098|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:0050773 paraganglioma ISO RGD:1345704 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:30273935|PMID:30484866|PMID:32035780|PMID:34012134|PMID:34906457|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:0050773 paraganglioma ISO RGD:1345704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata PMID:10323245|PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:16080474|PMID:16199547|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31492822|PMID:32035780|PMID:32741965|PMID:33219105|PMID:33748650|PMID:34906457|PMID:35626065|PMID:35938916|PMID:8981955|PMID:9536098|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:1345704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency | ClinVar Annotator: match by term: Succinate CoQ reductase deficiency PMID:10323245|PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11897812|PMID:11897817|PMID:12811540|PMID:14974914|PMID:15235042|PMID:15328326|PMID:15479192|PMID:17102085|PMID:19454582|PMID:20301715|PMID:21348866|PMID:21937622|PMID:22241717|PMID:22290790|PMID:22575350|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24758185|PMID:25014000|PMID:25326637|PMID:25494863|PMID:25695889|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29386252|PMID:29625052|PMID:29681642|PMID:29777207|PMID:30050099|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31492822|PMID:32741965|PMID:33748650|PMID:34012134|PMID:34906457|PMID:8981955 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1345704 D RGD:7240710 20180130 OMIM 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1345704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:10323245|PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15531530|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20111059|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20842377|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:27986441|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31212687|PMID:31492822|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:35626065|PMID:35938916|PMID:36614070|PMID:8981955|PMID:9536098|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:0080600 COVID-19 ISO RGD:1345704 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1345704 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fatal infantile mitochondrial cardiomyopathy PMID:26008905 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:1059 intellectual disability ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:10907 microcephaly ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:12704 ataxia telangiectasia ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:1909 melanoma ISO RGD:1345704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:630 genetic disease ISO RGD:1345704 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19454582|PMID:19802898|PMID:21318381|PMID:22041456|PMID:22138625|PMID:28492532 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9002162 Carotid Body Tumor ISO RGD:1345704 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carotid body paraganglioma PMID:11391796|PMID:15066320|PMID:17576205|PMID:19351833|PMID:19454582|PMID:21945342|PMID:22241717|PMID:28492532 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9002199 Paragangliomas 1 ISO RGD:1345704 D RGD:7240710 20190130 OMIM 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9002199 Paragangliomas 1 ISO RGD:1345704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Paragangliomas 1 | ClinVar Annotator: match by term: Paragangliomas familial 1 PMID:10323245|PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:14974914|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15479192|PMID:15531530|PMID:15623805|PMID:15905695|PMID:16080474|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20301715|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25791839|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28255624|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31212687|PMID:31492822|PMID:32035780|PMID:32741965|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33748650|PMID:34906457|PMID:35626065|PMID:35938916|PMID:8981955|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9002449 Glomus Jugulare Tumor ISO RGD:1345704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glomus tumors familial 1 PMID:10323245|PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:14974914|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:18678321|PMID:18692411|PMID:19258401|PMID:19351833|PMID:19454582|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:29386252|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31492822|PMID:32035780|PMID:32741965|PMID:33219105|PMID:33748650|PMID:34906457|PMID:35626065|PMID:35938916|PMID:8981955|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9003007 Mitochondrial Complex II Deficiency Nuclear Type 3 ISO RGD:1345704 D RGD:7240710 20210203 OMIM 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9003007 Mitochondrial Complex II Deficiency Nuclear Type 3 ISO RGD:1345704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 PMID:10323245|PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12386824|PMID:12811540|PMID:14974914|PMID:15032977|PMID:15235042|PMID:15328326|PMID:15331017|PMID:15479192|PMID:17102085|PMID:17308434|PMID:17576205|PMID:17576681|PMID:18678321|PMID:19454582|PMID:20301715|PMID:21348866|PMID:21565294|PMID:21937622|PMID:21979946|PMID:22241717|PMID:22290790|PMID:22575350|PMID:22584711|PMID:22703879|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25695889|PMID:25741868|PMID:26008905|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29625052|PMID:29681642|PMID:29777207|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31492822|PMID:32035780|PMID:32741965|PMID:33219105|PMID:33748650|PMID:34012134|PMID:34906457|PMID:8981955|PMID:9536098 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:1345704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:10323245|PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11897812|PMID:11897817|PMID:12811540|PMID:14974914|PMID:15235042|PMID:15328326|PMID:15479192|PMID:17102085|PMID:19454582|PMID:20301715|PMID:21348866|PMID:21937622|PMID:22241717|PMID:22290790|PMID:22575350|PMID:23175444|PMID:23433498|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24758185|PMID:25014000|PMID:25326637|PMID:25494863|PMID:25695889|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29386252|PMID:29625052|PMID:29681642|PMID:29777207|PMID:30050099|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31492822|PMID:32741965|PMID:33748650|PMID:34012134|PMID:34906457|PMID:8981955 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9003626 Paragangliomas 3 ISO RGD:1345704 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:10657297|PMID:11391798|PMID:12000816|PMID:12114404|PMID:19584903|PMID:20301715|PMID:21348866|PMID:22517554|PMID:23666964|PMID:24033266|PMID:25300370|PMID:25741868|PMID:26008905|PMID:26467025|PMID:28492532|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9004109 Intestinal Carcinoid Tumors ISO RGD:1345704 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoid tumors, intestinal PMID:12007193|PMID:12111639|PMID:12386824|PMID:12696072|PMID:14557476|PMID:15623805|PMID:18678321|PMID:21565294|PMID:21979946|PMID:22703879|PMID:23175444|PMID:24728327|PMID:25149476|PMID:25694510|PMID:25695889|PMID:25741868|PMID:26467025|PMID:27279923|PMID:28128698|PMID:28164237|PMID:28492532|PMID:29386252|PMID:29792313|PMID:34906457|PMID:35626065|PMID:35938916 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1345704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:10323245|PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16199547|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31492822|PMID:32035780|PMID:32741965|PMID:33219105|PMID:33748650|PMID:34012134|PMID:34906457|PMID:35626065|PMID:35938916|PMID:8981955|PMID:9536098|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1345704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:10323245|PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12114404|PMID:12218630|PMID:12509798|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14974914|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15479192|PMID:15531530|PMID:16080474|PMID:16199547|PMID:16317055|PMID:17102085|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20111059|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21792967|PMID:21937622|PMID:21945342|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22382802|PMID:22456618|PMID:22566194|PMID:22575350|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24367056|PMID:24436918|PMID:24758185|PMID:25014000|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25494863|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27279923|PMID:27634942|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29875428|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31492822|PMID:32035780|PMID:32741965|PMID:33748650|PMID:34906457|PMID:8981955|PMID:9536098|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9006360 Paragangliomas with Sensorineural Hearing Loss ISO RGD:1345704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Paragangliomas 1 with sensorineural hearing loss | ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss PMID:10323245|PMID:10657297|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:16080474|PMID:16199547|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17973943|PMID:18551016|PMID:18678321|PMID:18692411|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23083876|PMID:23175444|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27634942|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28492532|PMID:28873162|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31492822|PMID:32035780|PMID:32741965|PMID:33219105|PMID:33748650|PMID:34012134|PMID:34906457|PMID:35626065|PMID:35938916|PMID:8981955|PMID:9536098|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12386824|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29925701|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30484866|PMID:30877234|PMID:31666924|PMID:32035780|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12386824|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28492532|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29925701|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30484866|PMID:30877234|PMID:31666924|PMID:32035780|PMID:34906457|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12612654|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:9536098|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10323245|PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31492822|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:35626065|PMID:35938916|PMID:9536098|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10323245|PMID:10657297|PMID:10846047|PMID:11156372|PMID:11343322|PMID:11391796|PMID:11391798|PMID:11526495|PMID:11605159|PMID:11897812|PMID:11897817|PMID:12000816|PMID:12007193|PMID:12111639|PMID:12114404|PMID:12218630|PMID:12386824|PMID:12509798|PMID:12696072|PMID:12782822|PMID:12807974|PMID:12811540|PMID:14557476|PMID:14974914|PMID:14985401|PMID:15032977|PMID:15066320|PMID:15235042|PMID:15328326|PMID:15331017|PMID:15479192|PMID:15623805|PMID:15905695|PMID:15989954|PMID:16061558|PMID:16080474|PMID:16199547|PMID:16314641|PMID:16317055|PMID:17041923|PMID:17102082|PMID:17102085|PMID:17308434|PMID:17406045|PMID:17563904|PMID:17576205|PMID:17576681|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17973943|PMID:18211978|PMID:18213727|PMID:18414213|PMID:18551016|PMID:18561749|PMID:18678321|PMID:18692411|PMID:18826997|PMID:19027316|PMID:19075037|PMID:19258401|PMID:19351833|PMID:19393419|PMID:19454582|PMID:1945482|PMID:19550080|PMID:19576851|PMID:19584903|PMID:19802898|PMID:19825962|PMID:19936639|PMID:20098451|PMID:20208144|PMID:20301715|PMID:20418362|PMID:21348866|PMID:21565294|PMID:21792967|PMID:21822798|PMID:21937622|PMID:21945342|PMID:21979946|PMID:22025150|PMID:22170724|PMID:22241717|PMID:22290790|PMID:22456618|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22575350|PMID:22584711|PMID:22703879|PMID:22829200|PMID:23175444|PMID:23282968|PMID:23433498|PMID:23512077|PMID:23586964|PMID:23666964|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24367056|PMID:24436918|PMID:24728327|PMID:24735130|PMID:24758185|PMID:24859990|PMID:24886695|PMID:25014000|PMID:25149476|PMID:25275255|PMID:25300370|PMID:25326637|PMID:25328978|PMID:25376524|PMID:25494863|PMID:25547508|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25741136|PMID:25741868|PMID:25758995|PMID:25791839|PMID:25819804|PMID:25985138|PMID:26008905|PMID:26096992|PMID:26269449|PMID:26273102|PMID:26467025|PMID:27153395|PMID:27279923|PMID:27539324|PMID:27634942|PMID:27785149|PMID:28128698|PMID:28164237|PMID:28179334|PMID:28255624|PMID:28492532|PMID:28748451|PMID:28873162|PMID:28975465|PMID:28977582|PMID:29386252|PMID:29510530|PMID:29545045|PMID:29625052|PMID:29681642|PMID:29777207|PMID:29792313|PMID:29875428|PMID:29925701|PMID:30050099|PMID:30093976|PMID:30172768|PMID:30273935|PMID:30375904|PMID:30484866|PMID:30548481|PMID:30877234|PMID:30951038|PMID:31194233|PMID:31194241|PMID:31212687|PMID:31492822|PMID:31666924|PMID:32035780|PMID:32741965|PMID:32948182|PMID:33219105|PMID:33362715|PMID:33397040|PMID:33745191|PMID:33748650|PMID:34012134|PMID:34439168|PMID:34906457|PMID:35626065|PMID:35938916|PMID:36614070|PMID:8981955|PMID:9536098|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9008037 Paragangliomas 4 ISO RGD:1345704 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Paragangliomas 4 PMID:10657297|PMID:11391798|PMID:12000816|PMID:12114404|PMID:19584903|PMID:20301715|PMID:21348866|PMID:25300370|PMID:25741868|PMID:26008905|PMID:28492532|PMID:9683583 8822261 Sdhd succinate dehydrogenase complex subunit D gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1345704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8822272 Susd6 sushi domain containing 6 gene DOID:630 genetic disease ISO RGD:1349623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822290 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8822290 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8822290 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8822290 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8822290 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8822290 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8822290 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:12849 autistic disorder ISO RGD:1347613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8822290 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1347613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822290 Pim2 Pim-2 proto-oncogene, serine/threonine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1347613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458359 8822301 Snx30 sorting nexin family member 30 gene DOID:630 genetic disease ISO RGD:1601789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822316 LOC102028847 olfactory receptor 6N2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1350201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8822316 LOC102028847 olfactory receptor 6N2 gene DOID:1540 parathyroid carcinoma ISO RGD:1350201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8822316 LOC102028847 olfactory receptor 6N2 gene DOID:630 genetic disease ISO RGD:1350201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822316 LOC102028847 olfactory receptor 6N2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8822320 Pard6g par-6 family cell polarity regulator gamma gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312794 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8822320 Pard6g par-6 family cell polarity regulator gamma gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1312794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8822320 Pard6g par-6 family cell polarity regulator gamma gene DOID:630 genetic disease ISO RGD:1312794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822320 Pard6g par-6 family cell polarity regulator gamma gene DOID:6420 pulmonary valve stenosis ISO RGD:1312794 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8822320 Pard6g par-6 family cell polarity regulator gamma gene DOID:8445 intestinal volvulus ISO RGD:1312794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8822320 Pard6g par-6 family cell polarity regulator gamma gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1312794 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8822320 Pard6g par-6 family cell polarity regulator gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8822320 Pard6g par-6 family cell polarity regulator gamma gene DOID:9008419 Volvulus Of Midgut ISO RGD:1312794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8822338 Lyset lysosomal enzyme trafficking factor gene DOID:0080054 achondrogenesis type IA ISO RGD:1349199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8822338 Lyset lysosomal enzyme trafficking factor gene DOID:1059 intellectual disability ISO RGD:1349199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8822338 Lyset lysosomal enzyme trafficking factor gene DOID:630 genetic disease ISO RGD:1349199 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822338 Lyset lysosomal enzyme trafficking factor gene DOID:9005886 DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE ISO RGD:1349199 D RGD:7240710 20210818 OMIM 8822338 Lyset lysosomal enzyme trafficking factor gene DOID:9005886 DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE ISO RGD:1349199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysostosis multiplex, Ain-Naz type PMID:33252156 8822344 Acmsd aminocarboxymuconate semialdehyde decarboxylase gene DOID:1074 kidney failure ISO RGD:620868 D RGD:9068941 20200609 RGD PMID:10966936|REF_RGD_ID:13831124 8822344 Acmsd aminocarboxymuconate semialdehyde decarboxylase gene DOID:630 genetic disease ISO RGD:732597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822344 Acmsd aminocarboxymuconate semialdehyde decarboxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620868 D RGD:9068941 20200609 RGD PMID:19169727|REF_RGD_ID:13831126 8822344 Acmsd aminocarboxymuconate semialdehyde decarboxylase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620868 D RGD:9068941 20200609 RGD PMID:12042425|REF_RGD_ID:13831125 8822344 Acmsd aminocarboxymuconate semialdehyde decarboxylase gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:620868 D RGD:9068941 20200609 RGD PMID:16711654|REF_RGD_ID:13831123 8822377 B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:735674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8822377 B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:735674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8822377 B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:0111546 Currarino syndrome ISO RGD:735674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8822377 B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 gene DOID:630 genetic disease ISO RGD:735674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822385 Alg8 ALG8 alpha-1,3-glucosyltransferase gene DOID:0050770 polycystic liver disease ISO RGD:1313512 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:19688606|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532 8822385 Alg8 ALG8 alpha-1,3-glucosyltransferase gene DOID:0080560 congenital disorder of glycosylation Ih ISO RGD:1313512 D RGD:7240710 20180130 OMIM 8822385 Alg8 ALG8 alpha-1,3-glucosyltransferase gene DOID:0080560 congenital disorder of glycosylation Ih ISO RGD:1313512 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H PMID:12480927|PMID:15235028|PMID:16199547|PMID:17576681|PMID:19648040|PMID:19688606|PMID:19862844|PMID:23806237|PMID:25428507|PMID:25741868|PMID:26066342|PMID:26653770|PMID:28106320|PMID:28375157|PMID:28492532|PMID:28940310|PMID:36574950|PMID:9536098 8822385 Alg8 ALG8 alpha-1,3-glucosyltransferase gene DOID:1059 intellectual disability ISO RGD:1313512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8822385 Alg8 ALG8 alpha-1,3-glucosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1313512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 8822385 Alg8 ALG8 alpha-1,3-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1313512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19688606|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:9536098 8822385 Alg8 ALG8 alpha-1,3-glucosyltransferase gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1313512 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:19688606|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532 8822385 Alg8 ALG8 alpha-1,3-glucosyltransferase gene DOID:9009126 Polycystic Liver Disease 3 with or without Kidney Cysts ISO RGD:1313512 D RGD:7240710 20190315 OMIM 8822385 Alg8 ALG8 alpha-1,3-glucosyltransferase gene DOID:9009126 Polycystic Liver Disease 3 with or without Kidney Cysts ISO RGD:1313512 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 3 with or without kidney cysts PMID:15235028|PMID:16199547|PMID:17576681|PMID:19688606|PMID:19862844|PMID:25741868|PMID:26066342|PMID:28106320|PMID:28375157|PMID:28492532|PMID:36574950|PMID:9536098 8822405 E2f6 E2F transcription factor 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 8822405 E2f6 E2F transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1605732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8822405 E2f6 E2F transcription factor 6 gene DOID:630 genetic disease ISO RGD:1605732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822405 E2f6 E2F transcription factor 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1605732 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35225430 8822421 Ppfibp2 PPFIA binding protein 2 gene DOID:630 genetic disease ISO RGD:1316733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822421 Ppfibp2 PPFIA binding protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26443449 8822421 Ppfibp2 PPFIA binding protein 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1316733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8822495 Hus1 HUS1 checkpoint clamp component gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8822495 Hus1 HUS1 checkpoint clamp component gene DOID:630 genetic disease ISO RGD:1318030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822511 Tns2 tensin 2 gene DOID:0060852 Pierson syndrome ISO RGD:1615728 D RGD:9068941 20220825 MouseDO OMIM:609049 8822511 Tns2 tensin 2 gene DOID:1184 nephrotic syndrome ISO RGD:1322097 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:29773874 8822511 Tns2 tensin 2 gene DOID:630 genetic disease ISO RGD:1322097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29773874 8822557 Slc8a2 solute carrier family 8 member A2 gene DOID:10652 Alzheimer's disease ISO RGD:731774 D RGD:9068941 20200609 RGD protein:altered expression:synaptosome: PMID:21382638|REF_RGD_ID:13628395 8822557 Slc8a2 solute carrier family 8 member A2 gene DOID:1824 status epilepticus ISO RGD:620194 D RGD:9068941 20200609 RGD PMID:15461673|REF_RGD_ID:2316980 8822557 Slc8a2 solute carrier family 8 member A2 gene DOID:2316 brain ischemia ISO RGD:620194 D RGD:9068941 20200609 RGD PMID:16107787|REF_RGD_ID:2316979 8822557 Slc8a2 solute carrier family 8 member A2 gene DOID:630 genetic disease ISO RGD:731774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822557 Slc8a2 solute carrier family 8 member A2 gene DOID:9004009 Reperfusion Injury ISO RGD:620194 D RGD:9068941 20200609 RGD PMID:18037393|REF_RGD_ID:2316975 8822589 Zbtb22 zinc finger and BTB domain containing 22 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1352119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8822589 Zbtb22 zinc finger and BTB domain containing 22 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1352119 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8822589 Zbtb22 zinc finger and BTB domain containing 22 gene DOID:630 genetic disease ISO RGD:1352119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822607 Akap13 A-kinase anchoring protein 13 gene DOID:2717 Bloom syndrome ISO RGD:736118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8822607 Akap13 A-kinase anchoring protein 13 gene DOID:4450 renal cell carcinoma ISO RGD:736118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8822607 Akap13 A-kinase anchoring protein 13 gene DOID:630 genetic disease ISO RGD:736118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822607 Akap13 A-kinase anchoring protein 13 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 8822607 Akap13 A-kinase anchoring protein 13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 8822607 Akap13 A-kinase anchoring protein 13 gene DOID:9256 colorectal cancer ISO RGD:736118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8822652 Wdr18 WD repeat domain 18 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1321673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8822652 Wdr18 WD repeat domain 18 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1321673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 8822652 Wdr18 WD repeat domain 18 gene DOID:5339 cyclic hematopoiesis ISO RGD:1321673 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8822652 Wdr18 WD repeat domain 18 gene DOID:630 genetic disease ISO RGD:1321673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822691 Magef1 MAGE family member F1 gene DOID:0111546 Currarino syndrome ISO RGD:1348798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8822691 Magef1 MAGE family member F1 gene DOID:630 genetic disease ISO RGD:1348798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822692 Rufy4 RUN and FYVE domain containing 4 gene DOID:630 genetic disease ISO RGD:1602820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822692 Rufy4 RUN and FYVE domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8822708 Mon2 MON2 homolog, regulator of endosome-to-Golgi trafficking gene DOID:630 genetic disease ISO RGD:1604635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822755 Paxbp1 PAX3 and PAX7 binding protein 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8822755 Paxbp1 PAX3 and PAX7 binding protein 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8822755 Paxbp1 PAX3 and PAX7 binding protein 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8822755 Paxbp1 PAX3 and PAX7 binding protein 1 gene DOID:630 genetic disease ISO RGD:1353290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822755 Paxbp1 PAX3 and PAX7 binding protein 1 gene DOID:9002189 High Myopia ISO RGD:1353290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8822755 Paxbp1 PAX3 and PAX7 binding protein 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1353290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0050476 Barth syndrome ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:731354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:0112003 immunodeficiency 33 ISO RGD:731354 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:10588 adrenoleukodystrophy ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:12835 quadriplegia ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia PMID:25741868 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:12849 autistic disorder ISO RGD:731354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:13628 favism ISO RGD:731354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:2729 dyskeratosis congenita ISO RGD:731354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:607 paraplegia ISO RGD:731354 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:731354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822781 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma gene DOID:9002720 Splenomegaly ISO RGD:731354 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8822797 Tead2 TEA domain transcription factor 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8822797 Tead2 TEA domain transcription factor 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1344942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8822797 Tead2 TEA domain transcription factor 2 gene DOID:630 genetic disease ISO RGD:1344942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822847 Mettl27 methyltransferase like 27 gene DOID:0060041 autism spectrum disorder ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8822847 Mettl27 methyltransferase like 27 gene DOID:12849 autistic disorder ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8822847 Mettl27 methyltransferase like 27 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1352777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8822847 Mettl27 methyltransferase like 27 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 8822847 Mettl27 methyltransferase like 27 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8822847 Mettl27 methyltransferase like 27 gene DOID:5419 schizophrenia ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8822847 Mettl27 methyltransferase like 27 gene DOID:630 genetic disease ISO RGD:1352777 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822847 Mettl27 methyltransferase like 27 gene DOID:8445 intestinal volvulus ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8822847 Mettl27 methyltransferase like 27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8822847 Mettl27 methyltransferase like 27 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1352777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8822861 Foxr1 forkhead box R1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8822861 Foxr1 forkhead box R1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1320240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8822861 Foxr1 forkhead box R1 gene DOID:0080690 RASopathy ISO RGD:1320240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8822861 Foxr1 forkhead box R1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1320240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8822861 Foxr1 forkhead box R1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1320240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8822861 Foxr1 forkhead box R1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8822861 Foxr1 forkhead box R1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8822861 Foxr1 forkhead box R1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8822861 Foxr1 forkhead box R1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1320240 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8822861 Foxr1 forkhead box R1 gene DOID:630 genetic disease ISO RGD:1320240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822861 Foxr1 forkhead box R1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8822861 Foxr1 forkhead box R1 gene DOID:9007661 Dwarfism ISO RGD:1320240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8822871 Cd28 CD28 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8822871 Cd28 CD28 molecule gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8822871 Cd28 CD28 molecule gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916|PMID:26258847 8822871 Cd28 CD28 molecule gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:735932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8822871 Cd28 CD28 molecule gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:735932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8822871 Cd28 CD28 molecule gene DOID:10322 berylliosis ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12952926 8822871 Cd28 CD28 molecule gene DOID:11713 diabetic angiopathy ISO RGD:735932 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell PMID:15504310|REF_RGD_ID:2307197 8822871 Cd28 CD28 molecule gene DOID:1240 leukemia ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:19075187|REF_RGD_ID:5131619 8822871 Cd28 CD28 molecule gene DOID:12662 paracoccidioidomycosis ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:20713624|REF_RGD_ID:5131616 8822871 Cd28 CD28 molecule gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:18056387|REF_RGD_ID:5131621 8822871 Cd28 CD28 molecule gene DOID:14557 primary pulmonary hypertension ISO RGD:735932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8822871 Cd28 CD28 molecule gene DOID:2377 multiple sclerosis ISO RGD:735932 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-372G>A (human) PMID:14975605|REF_RGD_ID:1358478 8822871 Cd28 CD28 molecule gene DOID:2841 asthma ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:21356099|REF_RGD_ID:5131612 8822871 Cd28 CD28 molecule gene DOID:3082 interstitial lung disease ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:20030671|REF_RGD_ID:5131613 8822871 Cd28 CD28 molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:18057064|REF_RGD_ID:5131620 8822871 Cd28 CD28 molecule gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735932 D RGD:9068941 20200609 RGD CD28 null allele is increased in COPD PMID:19220836|REF_RGD_ID:5131618 8822871 Cd28 CD28 molecule gene DOID:3770 pulmonary fibrosis ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:20395561|REF_RGD_ID:4892281 8822871 Cd28 CD28 molecule gene DOID:417 autoimmune disease ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15494542|PMID:19077085 8822871 Cd28 CD28 molecule gene DOID:4483 rhinitis ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:21356099|REF_RGD_ID:5131612 8822871 Cd28 CD28 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7492435 8822871 Cd28 CD28 molecule gene DOID:614 lymphopenia ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:12750179|REF_RGD_ID:2307205 8822871 Cd28 CD28 molecule gene DOID:630 genetic disease ISO RGD:735932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822871 Cd28 CD28 molecule gene DOID:6432 pulmonary hypertension ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:19075187|REF_RGD_ID:5131619 8822871 Cd28 CD28 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898481|PMID:20453842|PMID:23143596 8822871 Cd28 CD28 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:19075187|REF_RGD_ID:5131619 8822871 Cd28 CD28 molecule gene DOID:8544 chronic fatigue syndrome ISO RGD:735932 D RGD:9068941 20200609 RGD PMID:18801465|REF_RGD_ID:5131614 8822871 Cd28 CD28 molecule gene DOID:9001341 Chloracne ISO RGD:735932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8822871 Cd28 CD28 molecule gene DOID:9001488 Human Influenza ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:21389258|REF_RGD_ID:5131611 8822871 Cd28 CD28 molecule gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:735932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8822871 Cd28 CD28 molecule gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:8759765|REF_RGD_ID:13702883 8822871 Cd28 CD28 molecule gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:19907173|REF_RGD_ID:13702882 8822871 Cd28 CD28 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:18601859|REF_RGD_ID:2307202 8822871 Cd28 CD28 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:16061730|REF_RGD_ID:2307203 8822871 Cd28 CD28 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8822871 Cd28 CD28 molecule gene DOID:9004484 Sepsis severity ISO RGD:735932 D RGD:9068941 20200609 RGD Higher soluble CD28 in patients who died PMID:17989345|REF_RGD_ID:5131622 8822871 Cd28 CD28 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:11160314|REF_RGD_ID:2307200 8822871 Cd28 CD28 molecule gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2299 D RGD:9068941 20200609 RGD PMID:12864982|REF_RGD_ID:2307204 8822871 Cd28 CD28 molecule gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:735932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8822871 Cd28 CD28 molecule gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:735932 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8822871 Cd28 CD28 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:10307 D RGD:9068941 20200609 RGD PMID:9410902|REF_RGD_ID:2307201 8822871 Cd28 CD28 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:735932 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:15504310|REF_RGD_ID:2307197 8822871 Cd28 CD28 molecule gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:735932 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:11685455|REF_RGD_ID:2307199 8822883 Elac2 elaC ribonuclease Z 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1342597 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH coenzyme Q reductase deficiency PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291 8822883 Elac2 elaC ribonuclease Z 2 gene DOID:0111496 combined oxidative phosphorylation deficiency 17 ISO RGD:1342597 D RGD:7240710 20240313 OMIM 8822883 Elac2 elaC ribonuclease Z 2 gene DOID:0111496 combined oxidative phosphorylation deficiency 17 ISO RGD:1342597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17 PMID:10986046|PMID:11175785|PMID:11507049|PMID:12515253|PMID:12522685|PMID:15863270|PMID:16199547|PMID:17576681|PMID:23849775|PMID:24033266|PMID:25326635|PMID:25741868|PMID:27769300|PMID:28441660|PMID:28454995|PMID:28492532|PMID:30094188|PMID:30217939|PMID:31045291|PMID:32685970|PMID:32870709|PMID:34056100|PMID:34732400|PMID:9536098 8822883 Elac2 elaC ribonuclease Z 2 gene DOID:10907 microcephaly ISO RGD:1342597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8822883 Elac2 elaC ribonuclease Z 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1342597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291 8822883 Elac2 elaC ribonuclease Z 2 gene DOID:2394 ovarian cancer ISO RGD:1342597 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8822883 Elac2 elaC ribonuclease Z 2 gene DOID:630 genetic disease ISO RGD:1342597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11175785|PMID:15863270|PMID:25326635|PMID:25741868|PMID:27769300|PMID:28492532|PMID:31045291|PMID:32685970|PMID:34056100|PMID:34732400 8822883 Elac2 elaC ribonuclease Z 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1342597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16114055 8822883 Elac2 elaC ribonuclease Z 2 gene DOID:9002356 Prostate Cancer, Hereditary, 2 ISO RGD:1342597 D RGD:7240710 20240313 OMIM 8822883 Elac2 elaC ribonuclease Z 2 gene DOID:9002356 Prostate Cancer, Hereditary, 2 ISO RGD:1342597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 2 PMID:10986046|PMID:11175785|PMID:11254448|PMID:11507049|PMID:12515253|PMID:12522685|PMID:15863270|PMID:24033266|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31045291 8822933 Fam178b family with sequence similarity 178 member B gene DOID:1059 intellectual disability ISO RGD:1605679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8822933 Fam178b family with sequence similarity 178 member B gene DOID:5419 schizophrenia ISO RGD:1605679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8822933 Fam178b family with sequence similarity 178 member B gene DOID:630 genetic disease ISO RGD:1605679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:0050773 paraganglioma exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland, chromaffin cell (human) PMID:31964418|REF_RGD_ID:153344516 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1343112 D RGD:9068941 20220721 RGD protein:increased expression:oral cavity (human) PMID:20967871|REF_RGD_ID:152999012 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:0060108 brain glioma exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:0080600 COVID-19 ISO RGD:1343112 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:13938 amenorrhea ISO RGD:1343112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:2316 brain ischemia ISO RGD:621281 D RGD:9068941 20200609 RGD protein:increased expression:thalamus (rat) PMID:9288726|REF_RGD_ID:2317254 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:234 colon adenocarcinoma exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:colon (human) PMID:31964418|REF_RGD_ID:153344516 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:3275 thymoma ameliorates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:thymus (human) PMID:31964418|REF_RGD_ID:153344516 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:3459 breast carcinoma disease_progression ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:decreased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:5520 head and neck squamous cell carcinoma ameliorates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:head or neck skin (human) PMID:31964418|REF_RGD_ID:153344516 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:630 genetic disease ISO RGD:1343112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:8923 skin melanoma exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:zone of skin (human) PMID:31964418|REF_RGD_ID:153344516 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:1343112 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 8822956 Naip NLR family apoptosis inhibitory protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8822981 Defb127 defensin beta 127 gene DOID:630 genetic disease ISO RGD:1343760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8822985 Itprid1 ITPR interacting domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8822985 Itprid1 ITPR interacting domain containing 1 gene DOID:630 genetic disease ISO RGD:1604967 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823022 LOC102025739 mitochondrial inner membrane protein COX18 gene DOID:10003 sensorineural hearing loss ISO RGD:1604709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8823022 LOC102025739 mitochondrial inner membrane protein COX18 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1604709 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25741868 8823022 LOC102025739 mitochondrial inner membrane protein COX18 gene DOID:630 genetic disease ISO RGD:1604709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823034 Rab8b RAB8B, member RAS oncogene family gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8823034 Rab8b RAB8B, member RAS oncogene family gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8823034 Rab8b RAB8B, member RAS oncogene family gene DOID:2717 Bloom syndrome ISO RGD:1350755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8823034 Rab8b RAB8B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823034 Rab8b RAB8B, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8823034 Rab8b RAB8B, member RAS oncogene family gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1553090 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 8823034 Rab8b RAB8B, member RAS oncogene family gene DOID:9256 colorectal cancer ISO RGD:1350755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8823047 Osbpl6 oxysterol binding protein like 6 gene DOID:630 genetic disease ISO RGD:1318914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823096 Fzd8 frizzled class receptor 8 gene DOID:630 genetic disease ISO RGD:1350514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823096 Fzd8 frizzled class receptor 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8823102 Neil2 nei like DNA glycosylase 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm PMID:32748548 8823102 Neil2 nei like DNA glycosylase 2 gene DOID:630 genetic disease ISO RGD:1323805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823102 Neil2 nei like DNA glycosylase 2 gene DOID:9002189 High Myopia ISO RGD:1323805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8823102 Neil2 nei like DNA glycosylase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312546 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:0080855 Parkinsonism ISO RGD:1312546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Juvenile 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:10608 celiac disease ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:630 genetic disease ISO RGD:1312546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:820 myocarditis ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:9000217 Stomach Neoplasms ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:9002265 Kidney Neoplasms ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:9009044 Immunodeficiency 109 ISO RGD:1312546 D RGD:7240710 20230505 OMIM 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:9009044 Immunodeficiency 109 ISO RGD:1312546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 109 with lymphoproliferation PMID:30872117 8823122 Tnfrsf9 TNF receptor superfamily member 9 gene DOID:934 viral infectious disease ISO RGD:1312546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 8823134 Uts2 urotensin 2 gene DOID:0050700 cardiomyopathy ISO RGD:3930 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium PMID:18280445|REF_RGD_ID:2306796 8823134 Uts2 urotensin 2 gene DOID:0050700 cardiomyopathy ISO RGD:737599 D RGD:9068941 20200609 RGD PMID:12791592|REF_RGD_ID:1580809 8823134 Uts2 urotensin 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:737599 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8823134 Uts2 urotensin 2 gene DOID:10591 pre-eclampsia ISO RGD:737599 D RGD:9068941 20200609 RGD PMID:15866083|REF_RGD_ID:1580806 8823134 Uts2 urotensin 2 gene DOID:10763 hypertension ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:14621188|REF_RGD_ID:1580812 8823134 Uts2 urotensin 2 gene DOID:10763 hypertension ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 8823134 Uts2 urotensin 2 gene DOID:10763 hypertension ISO RGD:737599 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15201550|REF_RGD_ID:1580808 8823134 Uts2 urotensin 2 gene DOID:114 heart disease susceptibility ISO RGD:737599 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:16508659|REF_RGD_ID:2306803 8823134 Uts2 urotensin 2 gene DOID:11714 gestational diabetes susceptibility ISO RGD:737599 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17327028|REF_RGD_ID:2306802 8823134 Uts2 urotensin 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:17184580|REF_RGD_ID:2306814 8823134 Uts2 urotensin 2 gene DOID:2841 asthma ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:17045018|REF_RGD_ID:2306832 8823134 Uts2 urotensin 2 gene DOID:2841 asthma ISO RGD:737599 D RGD:9068941 20200609 RGD PMID:17045018|REF_RGD_ID:2306832 8823134 Uts2 urotensin 2 gene DOID:3407 carotid artery disease ISO RGD:737599 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18338983|REF_RGD_ID:2306795 8823134 Uts2 urotensin 2 gene DOID:480 movement disease ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 8823134 Uts2 urotensin 2 gene DOID:5844 myocardial infarction ISO RGD:3930 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle PMID:15549273|REF_RGD_ID:2306846 8823134 Uts2 urotensin 2 gene DOID:6000 congestive heart failure ISO RGD:737599 D RGD:9068941 20200609 RGD PMID:12791592|REF_RGD_ID:1580809 8823134 Uts2 urotensin 2 gene DOID:6000 congestive heart failure severity ISO RGD:737599 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16364499|REF_RGD_ID:2306804 8823134 Uts2 urotensin 2 gene DOID:630 genetic disease ISO RGD:737599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823134 Uts2 urotensin 2 gene DOID:6432 pulmonary hypertension ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:15042392|REF_RGD_ID:2306848 8823134 Uts2 urotensin 2 gene DOID:8670 eating disorder ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 8823134 Uts2 urotensin 2 gene DOID:8947 diabetic retinopathy ISO RGD:737599 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18338983|REF_RGD_ID:2306795 8823134 Uts2 urotensin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3930 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney PMID:18796544|REF_RGD_ID:2306786 8823134 Uts2 urotensin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737599 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15492948|REF_RGD_ID:2306805 8823134 Uts2 urotensin 2 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:737599 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:urine PMID:15476950|REF_RGD_ID:2306806 8823134 Uts2 urotensin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8823134 Uts2 urotensin 2 gene DOID:9005289 Water Intoxication ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 8823134 Uts2 urotensin 2 gene DOID:9007001 Bradycardia ISO RGD:737599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16160878 8823134 Uts2 urotensin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3930 D RGD:9068941 20200609 RGD PMID:17900760|REF_RGD_ID:2306836 8823134 Uts2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737599 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:18067077|REF_RGD_ID:2306799 8823134 Uts2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737599 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15476950|REF_RGD_ID:2306806 8823134 Uts2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737600 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:19323985|REF_RGD_ID:2306785 8823134 Uts2 urotensin 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737599 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.S89N PMID:15476949|REF_RGD_ID:2306807 8823142 Dcaf4 DDB1 and CUL4 associated factor 4 gene DOID:1059 intellectual disability ISO RGD:1314746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8823142 Dcaf4 DDB1 and CUL4 associated factor 4 gene DOID:630 genetic disease ISO RGD:1314746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823160 Dhx16 DEAH-box helicase 16 gene DOID:1059 intellectual disability ISO RGD:1344132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31256877 8823160 Dhx16 DEAH-box helicase 16 gene DOID:11372 megacolon ISO RGD:1344132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8823160 Dhx16 DEAH-box helicase 16 gene DOID:1826 epilepsy ISO RGD:1344132 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31256877 8823160 Dhx16 DEAH-box helicase 16 gene DOID:630 genetic disease ISO RGD:1344132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8823160 Dhx16 DEAH-box helicase 16 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1344132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31256877 8823160 Dhx16 DEAH-box helicase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877 8823160 Dhx16 DEAH-box helicase 16 gene DOID:9004696 Neuromuscular Oculoauditory Syndrome ISO RGD:1344132 D RGD:7240710 20200226 OMIM 8823160 Dhx16 DEAH-box helicase 16 gene DOID:9004696 Neuromuscular Oculoauditory Syndrome ISO RGD:1344132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuromuscular disease and ocular or auditory anomalies with or without seizures PMID:25741868|PMID:31256877 8823184 Cdc42ep1 CDC42 effector protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8823184 Cdc42ep1 CDC42 effector protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1322427 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8823184 Cdc42ep1 CDC42 effector protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1322427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8823184 Cdc42ep1 CDC42 effector protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1322427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8823184 Cdc42ep1 CDC42 effector protein 1 gene DOID:630 genetic disease ISO RGD:1322427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823225 Afmid arylformamidase gene DOID:630 genetic disease ISO RGD:1606470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823246 Aqp6 aquaporin 6 gene DOID:630 genetic disease ISO RGD:737143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823254 Steep1 STING1 ER exit protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8823254 Steep1 STING1 ER exit protein 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1603201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8823254 Steep1 STING1 ER exit protein 1 gene DOID:0112054 non-syndromic X-linked intellectual disability 107 ISO RGD:1603201 D RGD:7240710 20190315 OMIM 8823254 Steep1 STING1 ER exit protein 1 gene DOID:0112054 non-syndromic X-linked intellectual disability 107 ISO RGD:1603201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 107 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 PMID:25741868|PMID:29374277 8823254 Steep1 STING1 ER exit protein 1 gene DOID:12849 autistic disorder ISO RGD:1603201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:7240710 20180130 OMIM 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:15689448|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:21943391|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25326637|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:36632626|PMID:8397373|PMID:9286463|PMID:9467011|PMID:9536098 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25326637|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:36632626|PMID:37323311|PMID:8397373|PMID:9286463|PMID:9467011|PMID:9536098 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:34326862|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37900118|PMID:8397373|PMID:9286463|PMID:9467011|PMID:9536098 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:34326862|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37900118|PMID:8397373|PMID:9286463|PMID:9467011|PMID:9536098 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0050787 juvenile polyposis syndrome ISO RGD:734372 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16525031|PMID:16685657|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18160401|PMID:18178612|PMID:18456716|PMID:18510548|PMID:186643|PMID:18823382|PMID:19438883|PMID:20843829|PMID:20845481|PMID:21153778|PMID:21194675|PMID:21203531|PMID:21872883|PMID:22067610|PMID:22138346|PMID:22703879|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:33032550|PMID:33097490|PMID:33110269|PMID:33821390|PMID:34326862|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37900118|PMID:581497|PMID:8397373|PMID:9286463|PMID:945914|PMID:9467011|PMID:9536098 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0080006 bone development disease ISO RGD:734372 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BMPR1A Skeletal Dysplasia Syndrome PMID:25741868|PMID:28492532|PMID:31493347 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0080600 COVID-19 ISO RGD:734372 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25741868|PMID:28492532|PMID:30093976 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0111686 hereditary mixed polyposis syndrome 2 ISO RGD:734372 D RGD:7240710 20180130 OMIM 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:0111686 hereditary mixed polyposis syndrome 2 ISO RGD:734372 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 PMID:10881198|PMID:11536076|PMID:12417513|PMID:12676908|PMID:14526373|PMID:15235019|PMID:16199547|PMID:16525031|PMID:17325551|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:20845481|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24055113|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:2658044|PMID:26580448|PMID:26845104|PMID:26976419|PMID:27146957|PMID:28135145|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29596542|PMID:29641532|PMID:30029678|PMID:30093976|PMID:30306255|PMID:30680046|PMID:30884445|PMID:31159747|PMID:31727138|PMID:31769494|PMID:32522261|PMID:33032550|PMID:33110269|PMID:33821390|PMID:36049049|PMID:36243179|PMID:9536098 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:14289 Ebstein anomaly ISO RGD:734373 D RGD:9068941 20220825 MouseDO OMIM:224700 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:1520 colon carcinoma ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:12417513|PMID:14526373|PMID:15235019|PMID:18823382|PMID:23399955|PMID:23433720|PMID:24055113|PMID:24728327|PMID:25058500|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26976419|PMID:27146957|PMID:28135145|PMID:28492532|PMID:28660566|PMID:31727138 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:1520 colon carcinoma ISO RGD:734372 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:12417513|PMID:14526373|PMID:15235019|PMID:18823382|PMID:23399955|PMID:23433720|PMID:24055113|PMID:24728327|PMID:25058500|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26976419|PMID:27146957|PMID:28135145|PMID:28492532|PMID:28660566|PMID:31727138|PMID:32522261 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:1612 breast cancer ISO RGD:734372 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:22703879|PMID:23399955|PMID:24033266|PMID:24448499|PMID:24728327|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26436109|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27621404|PMID:28492532 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:2394 ovarian cancer ISO RGD:734372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:734373 D RGD:9068941 20220825 MouseDO OMIM:194200 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:5295 intestinal disease ISO RGD:734372 D RGD:9068941 20200609 RGD hereditary mixed polyposis syndrome-2, HMPS2, OMIM:610069, DNA:deletion:exon PMID:16525031|REF_RGD_ID:1600590 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:5295 intestinal disease ISO RGD:734372 D RGD:9068941 20200609 RGD juvenile polyposis syndrome, OMIM:174900 , DNA:deletion PMID:16685657|REF_RGD_ID:1600591 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:5295 intestinal disease ISO RGD:734372 D RGD:9068941 20200609 RGD juvenile polyposis, OMIM:174900, DNA:point mutation:exon:Q239X PMID:11381269|REF_RGD_ID:1600589 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal polyposis PMID:22703879|PMID:23399955|PMID:24033266|PMID:24448499|PMID:24728327|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26436109|PMID:27153395|PMID:27621404|PMID:28492532 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:630 genetic disease ISO RGD:734372 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:6432 pulmonary hypertension ISO RGD:734372 D RGD:9068941 20200609 RGD PMID:19324947|REF_RGD_ID:5129472 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:8398 osteoarthritis ISO RGD:734373 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:24121792|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30029678|PMID:31727138 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9002739 Female Urogenital Diseases ISO RGD:734372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16199547|PMID:16436638|PMID:16705692|PMID:16902903|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28492532|PMID:28660566|PMID:29212164|PMID:29522511|PMID:29909963|PMID:30029678|PMID:30093976|PMID:30374176|PMID:30426508|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31727138|PMID:31780696|PMID:32068069|PMID:33032550|PMID:8397373|PMID:9536098 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734372 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:15689448|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:21943391|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25326637|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:33032550|PMID:33110269|PMID:33821390|PMID:36632626|PMID:9536098 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734372 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10881198|PMID:11073535|PMID:11381269|PMID:11536076|PMID:12136244|PMID:12417513|PMID:12519945|PMID:12630959|PMID:12676908|PMID:14526373|PMID:14734220|PMID:15064755|PMID:15235019|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16525031|PMID:16672363|PMID:16705692|PMID:16902903|PMID:17295905|PMID:17325551|PMID:17344846|PMID:17576681|PMID:17873119|PMID:18178612|PMID:186643|PMID:18823382|PMID:18937504|PMID:20845481|PMID:21153778|PMID:21203531|PMID:22138346|PMID:22703879|PMID:23399955|PMID:23433720|PMID:24033266|PMID:24055113|PMID:24121792|PMID:24448499|PMID:24728327|PMID:25058500|PMID:25117502|PMID:25186627|PMID:25525159|PMID:25530832|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25860647|PMID:25980754|PMID:25996639|PMID:26270727|PMID:26436109|PMID:26467025|PMID:26489027|PMID:2658044|PMID:26580448|PMID:26659599|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27621404|PMID:27696107|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28660566|PMID:28717660|PMID:29146900|PMID:29212164|PMID:29338689|PMID:29522511|PMID:29596542|PMID:29641532|PMID:29909963|PMID:29950348|PMID:30029678|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30680046|PMID:30809968|PMID:30884445|PMID:31159747|PMID:31468469|PMID:31493347|PMID:31727138|PMID:31769494|PMID:31780696|PMID:31949278|PMID:32068069|PMID:32459922|PMID:32522261|PMID:33032550|PMID:33110269|PMID:3313277|PMID:33821390|PMID:34326862|PMID:36049049|PMID:36243179|PMID:36632626|PMID:37323311|PMID:37354305|PMID:37900118|PMID:581497|PMID:945914|PMID:9536098 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9007253 Hamartoma ISO RGD:734372 D RGD:9068941 20200609 RGD Cowden-like syndrome, OMIM:158350, DNA:point mutation:exon:A338D PMID:11536076|REF_RGD_ID:734650 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9008296 Eye Abnormalities ISO RGD:734372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15804571 8823269 Bmpr1a bone morphogenetic protein receptor type 1A gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:734372 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:24121792|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31727138 8823284 Mycbpap MYCBP associated protein gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1345665 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8823284 Mycbpap MYCBP associated protein gene DOID:630 genetic disease ISO RGD:1345665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823308 Insyn2a inhibitory synaptic factor 2A gene DOID:0060390 distal 10q deletion syndrome ISO RGD:2290515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8823308 Insyn2a inhibitory synaptic factor 2A gene DOID:630 genetic disease ISO RGD:2290515 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823325 Prdx4 peroxiredoxin 4 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 8823325 Prdx4 peroxiredoxin 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8823325 Prdx4 peroxiredoxin 4 gene DOID:10603 glucose intolerance ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20446767 8823325 Prdx4 peroxiredoxin 4 gene DOID:12849 autistic disorder ISO RGD:731497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8823325 Prdx4 peroxiredoxin 4 gene DOID:3042 allergic contact dermatitis ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8823325 Prdx4 peroxiredoxin 4 gene DOID:4195 hyperglycemia ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20446767 8823325 Prdx4 peroxiredoxin 4 gene DOID:630 genetic disease ISO RGD:731497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823325 Prdx4 peroxiredoxin 4 gene DOID:9000918 Disease Progression ISO RGD:731497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 8823325 Prdx4 peroxiredoxin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8823344 Sla Src like adaptor gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:12872253|PMID:23996628|PMID:28492532 8823344 Sla Src like adaptor gene DOID:0112187 thyroid dyshormonogenesis 3 ISO RGD:1351693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 PMID:25741868|PMID:28492532 8823344 Sla Src like adaptor gene DOID:12306 vitiligo ISO RGD:1351693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 8823344 Sla Src like adaptor gene DOID:14264 benign neonatal seizures ISO RGD:1351693 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 8823344 Sla Src like adaptor gene DOID:630 genetic disease ISO RGD:1351693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823344 Sla Src like adaptor gene DOID:7188 autoimmune thyroiditis ISO RGD:1351693 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:25741868 8823344 Sla Src like adaptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8823355 Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:1682 congenital heart disease ISO RGD:732595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 8823355 Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:3070 high grade glioma ISO RGD:732595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8823355 Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:3883 Lynch syndrome ISO RGD:732595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8823355 Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:630 genetic disease ISO RGD:732595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823355 Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8823355 Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:621280 D RGD:9068941 20200609 RGD protein:decreased expression:cartilage tissue PMID:23386193|REF_RGD_ID:10041017 8823427 Olfml3 olfactomedin like 3 gene DOID:0080690 RASopathy ISO RGD:1322385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8823427 Olfml3 olfactomedin like 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1322385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8823427 Olfml3 olfactomedin like 3 gene DOID:10283 prostate cancer ISO RGD:1322385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8823427 Olfml3 olfactomedin like 3 gene DOID:630 genetic disease ISO RGD:1322385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823427 Olfml3 olfactomedin like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8823441 Srcin1 SRC kinase signaling inhibitor 1 gene DOID:630 genetic disease ISO RGD:1606779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823441 Srcin1 SRC kinase signaling inhibitor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1606779 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27506785 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:0050722 PHGDH deficiency ISO RGD:737571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:0081168 HMG-CoA synthase 2 deficiency ISO RGD:737571 D RGD:7240710 20180130 OMIM 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:0081168 HMG-CoA synthase 2 deficiency ISO RGD:737571 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY PMID:11228257|PMID:11479731|PMID:12072887|PMID:12647205|PMID:16199547|PMID:17576681|PMID:20346956|PMID:23751782|PMID:25511235|PMID:25741868|PMID:28492532|PMID:29597274|PMID:30283815|PMID:30477625|PMID:31910233|PMID:32259399|PMID:32952630|PMID:33045405|PMID:35308163|PMID:9337379|PMID:9536098|PMID:9727719 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:2804 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, mitochondrion (rat) PMID:12399220|REF_RGD_ID:2326121 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:737571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:6000 congestive heart failure ISO RGD:737571 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:630 genetic disease ISO RGD:737571 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737571 D RGD:9068941 20200609 RGD PMID:28867541|REF_RGD_ID:14975299 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9002801 Recurrence ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27816970 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925|PMID:27816970 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27816970 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9005369 Hepatomegaly ISO RGD:2804 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:10892723|REF_RGD_ID:2326126 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2804 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:7902069|REF_RGD_ID:2326135 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8823467 Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:737571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27816970 8823480 Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:0060543 Hermansky-Pudlak syndrome 5 ISO RGD:1323623 D RGD:7240710 20180130 OMIM 8823480 Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:0060543 Hermansky-Pudlak syndrome 5 ISO RGD:1323623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 PMID:12548288|PMID:15296495|PMID:21833017|PMID:22995991|PMID:23607980|PMID:24033266|PMID:24698632|PMID:25741868|PMID:26785811|PMID:28296950|PMID:28492532|PMID:28640947|PMID:31064749 8823480 Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1323623 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8823480 Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:1059 intellectual disability ISO RGD:1323623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8823480 Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:1062 Fanconi syndrome ISO RGD:1323623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI PMID:28492532 8823480 Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:2213 hemorrhagic disease ISO RGD:1323623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24033266|PMID:25741868|PMID:28492532 8823480 Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:2223 platelet storage pool deficiency ISO RGD:1323624 D RGD:9068941 20220825 MouseDO OMIM:185050 8823480 Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1323623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:12548288|PMID:15296495|PMID:16199547|PMID:21833017|PMID:23607980|PMID:24698632|PMID:25741868|PMID:26785811|PMID:28492532|PMID:28640947|PMID:31064749 8823480 Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:630 genetic disease ISO RGD:1323623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8823480 Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:1323623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A PMID:28492532 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:28492532 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0050827 rheumatic heart disease ISO RGD:1307272 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1316368 D RGD:7240710 20180130 OMIM 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1316368 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition PMID:11279515|PMID:11448942|PMID:11592033|PMID:11595972|PMID:11891681|PMID:12784289|PMID:12920073|PMID:15121779|PMID:15908750|PMID:16053902|PMID:16088920|PMID:16199547|PMID:16532472|PMID:16688751|PMID:17203459|PMID:17576681|PMID:17932455|PMID:17958891|PMID:18182442|PMID:18414213|PMID:19006215|PMID:19215041|PMID:19842203|PMID:2030158|PMID:20428734|PMID:23243526|PMID:23322667|PMID:23418865|PMID:23466526|PMID:23523603|PMID:24092421|PMID:24401652|PMID:24715670|PMID:25123255|PMID:25326635|PMID:25326637|PMID:25497574|PMID:25608121|PMID:25627829|PMID:25741868|PMID:25899569|PMID:25931334|PMID:26467025|PMID:26633542|PMID:26661037|PMID:26809768|PMID:26993267|PMID:27831545|PMID:27848944|PMID:28166811|PMID:28492532|PMID:28501473|PMID:28708303|PMID:29089047|PMID:29159939|PMID:29263819|PMID:29300384|PMID:30083364|PMID:30315573|PMID:31130284|PMID:31178897|PMID:31376723|PMID:32860008|PMID:34298581|PMID:9536098|PMID:9719364 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1316368 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16053902|PMID:17958891|PMID:18414213|PMID:19215041|PMID:24401652|PMID:24715670|PMID:25741868|PMID:25899569|PMID:26809768|PMID:28492532 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:1682 congenital heart disease ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17478475 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:2786 cerebellar disease ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29326173 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:576 proteinuria ISO RGD:1307272 D RGD:9068941 20230128 RGD mRNA:increased expression:glomerular podocytes (rat) PMID:31784544|REF_RGD_ID:155882534 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:5844 myocardial infarction ISO RGD:1307272 D RGD:9068941 20230128 RGD protein:increased expression:heart (rat) PMID:24155330|REF_RGD_ID:155882536 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:630 genetic disease ISO RGD:1316368 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11448942|PMID:12784289|PMID:15121779|PMID:16053902|PMID:17203459|PMID:17958891|PMID:18414213|PMID:19215041|PMID:19842203|PMID:20428734|PMID:23243526|PMID:23322667|PMID:23466526|PMID:23523603|PMID:24401652|PMID:24715670|PMID:25123255|PMID:25608121|PMID:25741868|PMID:25899569|PMID:25931334|PMID:26467025|PMID:26661037|PMID:26809768|PMID:27831545|PMID:28492532|PMID:29089047|PMID:29300384|PMID:31376723|PMID:9719364 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9000918 Disease Progression ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9002320 Neurobehavioral Manifestations treatment ISO RGD:1307272 D RGD:9068941 20230128 RGD PMID:34334113|REF_RGD_ID:155882538 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9003292 Intracranial Subdural Hematoma ISO RGD:1307272 D RGD:9068941 20230128 RGD protein:increased expression:brain (rat) PMID:34334113|REF_RGD_ID:155882538 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9003292 Intracranial Subdural Hematoma treatment ISO RGD:1307272 D RGD:9068941 20230128 RGD PMID:34334113|REF_RGD_ID:155882538 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1307272 D RGD:9068941 20230128 RGD mRNA:increased expression:glomerular podocytes (rat) PMID:31784544|REF_RGD_ID:155882534 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1307272 D RGD:9068941 20230202 RGD PMID:34852714|REF_RGD_ID:155882542 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:1307272 D RGD:9068941 20230202 RGD associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) PMID:23977013|REF_RGD_ID:155882570 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1316368 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:29300384 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9007402 Gliosis ISO RGD:1307272 D RGD:9068941 20230202 RGD PMID:34852714|REF_RGD_ID:155882542 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9008297 Motor Disorders ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29326173 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1316368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 8823517 Zeb2 zinc finger E-box binding homeobox 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1316368 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:25741868 8823529 Lcn9 lipocalin 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8823529 Lcn9 lipocalin 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8823529 Lcn9 lipocalin 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1345733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8823529 Lcn9 lipocalin 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8823529 Lcn9 lipocalin 9 gene DOID:0081097 Rafiq syndrome ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8823529 Lcn9 lipocalin 9 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1345733 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8823529 Lcn9 lipocalin 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8823529 Lcn9 lipocalin 9 gene DOID:3652 Leigh disease ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8823529 Lcn9 lipocalin 9 gene DOID:630 genetic disease ISO RGD:1345733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823529 Lcn9 lipocalin 9 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1345733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8823551 Rgcc regulator of cell cycle gene DOID:630 genetic disease ISO RGD:733140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823551 Rgcc regulator of cell cycle gene DOID:9007102 Myocardial Ischemia ISO RGD:733140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8823560 LZTS1 leucine zipper tumor suppressor 1 gene DOID:3459 breast carcinoma ISO RGD:736900 D RGD:9068941 20220421 RGD mRNA, protein:decreased exoression:breast, tumor (human) PMID:18686028|REF_RGD_ID:151893465 8823560 Lzts1 leucine zipper tumor suppressor 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:736900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8823560 Lzts1 leucine zipper tumor suppressor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736900 D RGD:9068941 20200609 RGD esophageal squamous cell carcinoma, OMIM:133239 PMID:10097140|REF_RGD_ID:1600104 8823560 Lzts1 leucine zipper tumor suppressor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736900 D RGD:7240710 20240207 OMIM 8823560 Lzts1 leucine zipper tumor suppressor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736900 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic | ClinVar Annotator: match by term: LZTS1-related condition PMID:10097140|PMID:25741868|PMID:26504261|PMID:28492532 8823560 Lzts1 leucine zipper tumor suppressor 1 gene DOID:5041 esophageal cancer ISO RGD:736900 D RGD:9068941 20240208 RGD esophageal squamous cell carcinoma, OMIM:133239 PMID:10097140|REF_RGD_ID:1600104 8823560 Lzts1 leucine zipper tumor suppressor 1 gene DOID:630 genetic disease ISO RGD:736900 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8823560 Lzts1 leucine zipper tumor suppressor 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8823560 Lzts1 leucine zipper tumor suppressor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12377406 8823580 Osbpl9 oxysterol binding protein like 9 gene DOID:630 genetic disease ISO RGD:1323003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823610 Pfn3 profilin 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8823610 Pfn3 profilin 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8823610 Pfn3 profilin 3 gene DOID:14748 Sotos syndrome ISO RGD:1604471 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8823610 Pfn3 profilin 3 gene DOID:630 genetic disease ISO RGD:1604471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823610 Pfn3 profilin 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:0080158 herpes simplex virus keratitis susceptibility ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:17266445|REF_RGD_ID:8661706 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:0080162 lupus nephritis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:20980973|REF_RGD_ID:6893449 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:0080745 polymyositis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7582694) (human) PMID:24632671|REF_RGD_ID:8661720 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:0081373 disabling pansclerotic morphea ISO RGD:1313964 D RGD:7240710 20240320 OMIM 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:0081373 disabling pansclerotic morphea ISO RGD:1313964 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Disabling pansclerotic morphea of childhood | ClinVar Annotator: match by term: STAT4-related condition PMID:25741868|PMID:28492532|PMID:37256972 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:0111944 immunodeficiency 31B ISO RGD:1313964 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:22651901|PMID:28492532 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:10223 dermatomyositis ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7574865 (human) PMID:22402141|REF_RGD_ID:8661693 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs:3'utr: (rs7574865, rs8179673, rs10181656) (human) PMID:24648611|REF_RGD_ID:25671415 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: intron: (rs7574865) (human) PMID:28395724|REF_RGD_ID:25671416 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:multiple PMID:24648611|REF_RGD_ID:25671415 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD associated with Crohn���s disease; DNA:SNP:intron: (rs7574865) (human) PMID:26084578|REF_RGD_ID:25671421 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:12297 Vogt-Koyanagi-Harada disease ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7574865 (human) PMID:20438790|REF_RGD_ID:8661713 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:12361 Graves' disease ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:16195404|REF_RGD_ID:7207875 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097066|PMID:24097067 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:20360187|REF_RGD_ID:8661709 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:18273036|REF_RGD_ID:8661708 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7582694) (human) PMID:20535138|REF_RGD_ID:8661690 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:13241 Behcet's disease ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:13241 Behcet's disease ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7574865 (human) PMID:20438790|REF_RGD_ID:8661713 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:13241 Behcet's disease ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs: :rs897200, rs7572482, rs7574070 (human) PMID:23001997|REF_RGD_ID:8661718 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:1577 limited scleroderma no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs10168266, rs3821236) (human) PMID:23755762|REF_RGD_ID:8661701 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:1577 limited scleroderma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:19286670|PMID:23755762|REF_RGD_ID:8661701|REF_RGD_ID:8661714 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:1580 diffuse scleroderma no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs3821236) (human) PMID:23755762|REF_RGD_ID:8661701 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:1580 diffuse scleroderma no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:19286670|REF_RGD_ID:8661714 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:introns: (rs7574865, rs10168266) (human) PMID:23755762|REF_RGD_ID:8661701 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:1884 viral hepatitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver, inflammatory cell (human) PMID:24731448|REF_RGD_ID:25671417 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:1996 rectum adenocarcinoma ISO RGD:1313964 D RGD:9068941 20220812 RGD DNA:SNP:intron: (rs3024861) (human) PMID:22121102|REF_RGD_ID:153323313 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:2043 hepatitis B ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27444301 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs: intron 3, intron: (rs7574865, rs7582694) (human) PMID:23990947|PMID:28977835|REF_RGD_ID:25671418|REF_RGD_ID:25671419 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:2377 multiple sclerosis ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:2841 asthma ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28807506 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:2841 asthma treatment ISO RGD:1305747 D RGD:9068941 20220812 RGD PMID:18211752|REF_RGD_ID:2317290 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7561832 (human) PMID:20045654|REF_RGD_ID:7207872 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:2986 IgA glomerulonephritis no_association ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.274-28828C>G (rs10181656) (human) PMID:20479942|REF_RGD_ID:7207878 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1305747 D RGD:9068941 20220812 RGD protein:increased expression:lung PMID:24321062|REF_RGD_ID:8661725 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:3717 gastric adenocarcinoma ISO RGD:1313964 D RGD:9068941 20220812 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:418 systemic scleroderma ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:418 systemic scleroderma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs11889341) (human) PMID:19950257|REF_RGD_ID:8661711 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:418 systemic scleroderma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7574865) (human) PMID:19644887|REF_RGD_ID:8661700 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:630 genetic disease ISO RGD:1313964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23242368 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD Hepatitis B, Chronic; DNA:SNP: intron 3: (rs7574865) (human) PMID:26745093|REF_RGD_ID:11553302 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:8541 Sezary's disease ISO RGD:1313964 D RGD:9068941 20200609 RGD PMID:16403914|REF_RGD_ID:8661723 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:869 cholesteatoma ISO RGD:1313964 D RGD:9068941 20200609 RGD PMID:24321752|REF_RGD_ID:8661722 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:8704 genital herpes severity ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:22718836|REF_RGD_ID:8661697 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:8704 genital herpes treatment ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs7572482 (human) PMID:22718836|REF_RGD_ID:8661697 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:8893 psoriasis susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS3 (rs7574865) (human) PMID:19500629|REF_RGD_ID:8661715 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9002174 Disease Susceptibility ISO RGD:1313964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27444301 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9002514 Neointima treatment ISO RGD:1305747 D RGD:9068941 20220812 RGD associated with Carotid Artery Injuries PMID:16118253|REF_RGD_ID:5509614 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1305747 D RGD:9068941 20220812 RGD PMID:11240014|REF_RGD_ID:7207888 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9003870 Herpes Simplex Encephalitis susceptibility ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:17266445|REF_RGD_ID:8661706 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9004283 Transplant Rejection ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs7574865 (human) PMID:21237270|REF_RGD_ID:7207871 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9004484 Sepsis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:11257135|REF_RGD_ID:7207876 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9004874 Dermal Fibrosis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:21360510|REF_RGD_ID:8661691 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9005005 Oral Ulcer ISO RGD:1313964 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) PMID:21719445|REF_RGD_ID:5147916 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:10553062|REF_RGD_ID:7207889 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1305747 D RGD:9068941 20220812 RGD PMID:18296740|REF_RGD_ID:7207884 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9007356 Eczema ISO RGD:1313964 D RGD:9068941 20200609 RGD PMID:22192168|REF_RGD_ID:6893665 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313965 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, macrophage (mouse) PMID:23876342|REF_RGD_ID:25671422 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1313965 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver, inflammatory cell (mouse) PMID:24731448|REF_RGD_ID:25671417 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9008 psoriatic arthritis ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP: :rs10181656 (human) PMID:22328738|REF_RGD_ID:8661724 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:multiple PMID:25829184|REF_RGD_ID:25671420 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313964 D RGD:7240710 20240320 OMIM 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313964 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 11 PMID:17804842|PMID:19109131|PMID:19838193|PMID:19838195|PMID:25741868 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus onset ISO RGD:1313964 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) PMID:23049788|REF_RGD_ID:7207877 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:16920939|REF_RGD_ID:7207874 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:10458767|REF_RGD_ID:8661703 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9146 visceral leishmaniasis ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:24242758|REF_RGD_ID:8661696 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9452 steatotic liver disease ISO RGD:1313965 D RGD:9068941 20200609 RGD PMID:16799967|REF_RGD_ID:25671424 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1313965 D RGD:9068941 20220825 MouseDO OMIM:222100 8823621 Stat4 signal transducer and activator of transcription 4 gene DOID:9970 obesity treatment ISO RGD:1305747 D RGD:9068941 20220812 RGD PMID:20978234|REF_RGD_ID:5509594 8823654 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1354234 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 PMID:35342016|PMID:36195244 8823654 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:0110945 autosomal recessive osteopetrosis 6 ISO RGD:1354234 D RGD:7240710 20180130 OMIM 8823654 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:0110945 autosomal recessive osteopetrosis 6 ISO RGD:1354234 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6 PMID:17404618|PMID:25741868 8823654 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:1059 intellectual disability ISO RGD:1354234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8823654 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:4254 osteosclerosis ISO RGD:1354234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:25741868 8823654 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:630 genetic disease ISO RGD:1354234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8823654 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:9009253 Autosomal Dominant Osteopetrosis 3 ISO RGD:1354234 D RGD:7240710 20190315 OMIM 8823654 Plekhm1 pleckstrin homology and RUN domain containing M1 gene DOID:9009253 Autosomal Dominant Osteopetrosis 3 ISO RGD:1354234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 PMID:17997709 8823674 Gpr21 G protein-coupled receptor 21 gene DOID:630 genetic disease ISO RGD:1351876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823679 Hoxc5 homeobox C5 gene DOID:630 genetic disease ISO RGD:1344989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823679 Hoxc5 homeobox C5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8823685 Dnajb12 DnaJ heat shock protein family (Hsp40) member B12 gene DOID:630 genetic disease ISO RGD:1348292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823706 Foxa2 forkhead box A2 gene DOID:2018 hyperinsulinism ISO RGD:10719 D RGD:9068941 20200609 RGD PMID:11445544|REF_RGD_ID:2313243 8823706 Foxa2 forkhead box A2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605726 D RGD:9068941 20220407 RGD mRNA:decreased expression:lung PMID:26658322|REF_RGD_ID:11554787 8823706 Foxa2 forkhead box A2 gene DOID:630 genetic disease ISO RGD:1605726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8823706 Foxa2 forkhead box A2 gene DOID:850 lung disease ISO RGD:1605726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 8823706 Foxa2 forkhead box A2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8823706 Foxa2 forkhead box A2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2808 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex PMID:19433262|REF_RGD_ID:2312358 8823706 Foxa2 forkhead box A2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1605726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863852 8823706 Foxa2 forkhead box A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605726 D RGD:9068941 20200609 RGD DNA:SNP, repeat: :rs1055080 (human) PMID:18797817|REF_RGD_ID:2313242 8823706 Foxa2 forkhead box A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605726 D RGD:9068941 20200609 RGD DNA:missense mutation:p.A86T (human) PMID:11043867|REF_RGD_ID:2313245 8823706 Foxa2 forkhead box A2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1605726 D RGD:9068941 20200609 RGD DNA:transversion, transitions:promoter, exon:multiple PMID:10868949|REF_RGD_ID:2313246 8823706 Foxa2 forkhead box A2 gene DOID:9970 obesity ISO RGD:10719 D RGD:9068941 20200609 RGD PMID:12865419|REF_RGD_ID:1627574 8823716 Clic6 chloride intracellular channel 6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8823716 Clic6 chloride intracellular channel 6 gene DOID:0060898 Parkinson's disease 20 ISO RGD:735803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8823716 Clic6 chloride intracellular channel 6 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:735803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8823716 Clic6 chloride intracellular channel 6 gene DOID:0110648 long QT syndrome 6 ISO RGD:735803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:28492532 8823716 Clic6 chloride intracellular channel 6 gene DOID:1588 thrombocytopenia ISO RGD:735803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 8823716 Clic6 chloride intracellular channel 6 gene DOID:2661 myoepithelioma ISO RGD:735803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8823716 Clic6 chloride intracellular channel 6 gene DOID:630 genetic disease ISO RGD:735803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823716 Clic6 chloride intracellular channel 6 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:735803 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial thrombocytopenia with propensity to acute myelogenous leukemia | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome PMID:18723428|PMID:24100448|PMID:28492532|PMID:32581362 8823728 Zbtb26 zinc finger and BTB domain containing 26 gene DOID:630 genetic disease ISO RGD:1318405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823749 Bnc1 basonuclin zinc finger protein 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1319162 D RGD:7240710 20200101 OMIM 8823749 Bnc1 basonuclin zinc finger protein 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 16 PMID:10909|PMID:25741868 8823749 Bnc1 basonuclin zinc finger protein 1 gene DOID:13938 amenorrhea ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8823749 Bnc1 basonuclin zinc finger protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8823749 Bnc1 basonuclin zinc finger protein 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8823749 Bnc1 basonuclin zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1319162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823749 Bnc1 basonuclin zinc finger protein 1 gene DOID:9256 colorectal cancer ISO RGD:1319162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:0050700 cardiomyopathy ISO RGD:734022 D RGD:9068941 20210122 RGD mRNA, protein:alternative form, increased expression:heart PMID:23462508|REF_RGD_ID:40924663 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734022 D RGD:9068941 20240125 RGD DNA:SNPs:introns:multiple PMID:17085484|REF_RGD_ID:401959319 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:0050933 ovarian serous carcinoma disease_progression ISO RGD:734022 D RGD:9068941 20210115 RGD PMID:25455994|REF_RGD_ID:40907066 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:0060318 acute promyelocytic leukemia disease_progression ISO RGD:734022 D RGD:9068941 20210115 RGD PMID:24296270|REF_RGD_ID:40907062 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:1059 intellectual disability ISO RGD:734022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:10652 Alzheimer's disease ISO RGD:67378 D RGD:9068941 20210122 RGD PMID:31028587|REF_RGD_ID:40925918 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:11206 opioid abuse ISO RGD:67378 D RGD:9068941 20240125 RGD PMID:24399412|REF_RGD_ID:401959321 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:11260 rabies ISO RGD:736988 D RGD:9068941 20210115 RGD PMID:9696812|REF_RGD_ID:40907065 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:1459 hypothyroidism ISO RGD:67378 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:20412599|REF_RGD_ID:2326028 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:1574 alcohol use disorder ISO RGD:67378 D RGD:9068941 20231221 RGD mRNA:decreased expression:hippocampus (rat) PMID:30277635|REF_RGD_ID:401938665 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:1574 alcohol use disorder sexual_dimorphism ISO RGD:67378 D RGD:9068941 20240201 RGD associated with chronic stress in female rats PMID:27894930|REF_RGD_ID:401959751 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:1574 alcohol use disorder treatment ISO RGD:67378 D RGD:9068941 20240127 RGD PMID:16207289|REF_RGD_ID:401959613 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:1596 depressive disorder treatment ISO RGD:67378 D RGD:9068941 20210122 RGD PMID:29217494|REF_RGD_ID:13703051 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:734022 D RGD:9068941 20200609 RGD PMID:11249065|REF_RGD_ID:2326074 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:1793 pancreatic cancer severity ISO RGD:734022 D RGD:9068941 20200609 RGD PMID:10374842|REF_RGD_ID:2326075 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:2560 morphine dependence ISO RGD:67378 D RGD:9068941 20240125 RGD protein:decreased expression, altered form:hippocampus (rat) PMID:15673448|REF_RGD_ID:401900167 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:3073 brain glioblastoma multiforme disease_progression ISO RGD:734022 D RGD:9068941 20210122 RGD PMID:20219118|REF_RGD_ID:40924672 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:3312 bipolar disorder ISO RGD:734022 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS6+32T>C, IVS7+11G>C, IVS12+21C>A (human) PMID:15050861|REF_RGD_ID:1358750 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:67378 D RGD:9068941 20210122 RGD PMID:29497380|REF_RGD_ID:40925919 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:734022 D RGD:9068941 20210115 RGD PMID:32962079|REF_RGD_ID:40924633 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:3892 insulinoma ISO RGD:734022 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:8972754|REF_RGD_ID:2326080 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:4947 cholangiocarcinoma ISO RGD:734022 D RGD:9068941 20200609 RGD associated with hepatitis PMID:12031086|REF_RGD_ID:2326079 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:5419 schizophrenia ISO RGD:734022 D RGD:9068941 20210122 RGD PMID:30664618|REF_RGD_ID:40925920 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:67378 D RGD:9068941 20210122 RGD protein:alternative form, increased expression:myocardium PMID:23462508|REF_RGD_ID:40924663 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:736988 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:19853610|REF_RGD_ID:2325979 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:6000 congestive heart failure ISO RGD:67378 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:19853610|REF_RGD_ID:2325979 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:734022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:657 adenoma ISO RGD:734022 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:15100237|REF_RGD_ID:2326070 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:734022 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell PMID:15100237|REF_RGD_ID:2326070 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:734022 D RGD:9068941 20210115 RGD PMID:28529158|REF_RGD_ID:40924632 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736988 D RGD:9068941 20200609 RGD PMID:10086383|REF_RGD_ID:2326067 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:67378 D RGD:9068941 20240201 RGD PMID:27894930|REF_RGD_ID:401959751 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:67378 D RGD:9068941 20210122 RGD protein:decreased expression:hippocampus PMID:17064783|REF_RGD_ID:40924670 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9002936 Bile Duct Neoplasms ISO RGD:734022 D RGD:9068941 20200609 RGD PMID:9851639|REF_RGD_ID:2326076 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:734022 D RGD:9068941 20200609 RGD PMID:8501910|REF_RGD_ID:2326077 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:734022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:734022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:67378 D RGD:9068941 20210122 RGD protein:decreased expression:skeletal joint PMID:31742919|REF_RGD_ID:40924673 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19700239 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9008023 Memory Disorders treatment ISO RGD:67378 D RGD:9068941 20240127 RGD associated with alcohol use disorder PMID:16207289|REF_RGD_ID:401959613 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:736988 D RGD:9068941 20230223 RGD PMID:18757519|REF_RGD_ID:2326023 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:734022 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:15714132|REF_RGD_ID:2326066 8823757 Ncam1 neural cell adhesion molecule 1 gene DOID:9974 drug dependence ISO RGD:734022 D RGD:9068941 20240125 RGD associated with alcohol dependence;DNA:haplotype:exon: PMID:18828801|REF_RGD_ID:401959320 8823831 Bcl6b BCL6B transcription repressor gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1349060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8823831 Bcl6b BCL6B transcription repressor gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1349060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8823831 Bcl6b BCL6B transcription repressor gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1349060 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8823831 Bcl6b BCL6B transcription repressor gene DOID:12177 common variable immunodeficiency ISO RGD:1349060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8823831 Bcl6b BCL6B transcription repressor gene DOID:2729 dyskeratosis congenita ISO RGD:1349060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8823831 Bcl6b BCL6B transcription repressor gene DOID:630 genetic disease ISO RGD:1349060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823844 Dgki diacylglycerol kinase iota gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8823844 Dgki diacylglycerol kinase iota gene DOID:630 genetic disease ISO RGD:1343674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823883 Exoc3l4 exocyst complex component 3 like 4 gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1349636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 8823883 Exoc3l4 exocyst complex component 3 like 4 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1349636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8823883 Exoc3l4 exocyst complex component 3 like 4 gene DOID:12849 autistic disorder ISO RGD:1349636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8823883 Exoc3l4 exocyst complex component 3 like 4 gene DOID:630 genetic disease ISO RGD:1349636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823913 Wnt5a Wnt family member 5A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28726637 8823913 Wnt5a Wnt family member 5A gene DOID:0060254 Robinow syndrome ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8823913 Wnt5a Wnt family member 5A gene DOID:0060254 Robinow syndrome ISO RGD:734385 D RGD:9068941 20220825 MouseDO 8823913 Wnt5a Wnt family member 5A gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1353257 D RGD:7240710 20180131 OMIM 8823913 Wnt5a Wnt family member 5A gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1353257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:16602827|PMID:18414213|PMID:19918918|PMID:24716670|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29276006|PMID:30760477|PMID:5771504 8823913 Wnt5a Wnt family member 5A gene DOID:219 colon cancer treatment ISO RGD:69250 D RGD:9068941 20211210 RGD PMID:28032729|REF_RGD_ID:150530464 8823913 Wnt5a Wnt family member 5A gene DOID:2871 endometrial carcinoma ISO RGD:1353257 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:vs normal endometrium PMID:9099960|REF_RGD_ID:2291875 8823913 Wnt5a Wnt family member 5A gene DOID:630 genetic disease ISO RGD:1353257 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8823913 Wnt5a Wnt family member 5A gene DOID:9002739 Female Urogenital Diseases ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8823913 Wnt5a Wnt family member 5A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 8823913 Wnt5a Wnt family member 5A gene DOID:9005172 Lung Neoplasms ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349696 8823913 Wnt5a Wnt family member 5A gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19061910 8823913 Wnt5a Wnt family member 5A gene DOID:9007661 Dwarfism ISO RGD:1353257 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 8823934 Htra3 HtrA serine peptidase 3 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1354015 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8823934 Htra3 HtrA serine peptidase 3 gene DOID:630 genetic disease ISO RGD:1354015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:732468 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:25741868|PMID:28492532 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:732468 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:22200646|PMID:23801933|PMID:24038909|PMID:25326637|PMID:25741868|PMID:27081547|PMID:28492532|PMID:28655553|PMID:29891884 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:11294 arteriovenous malformation ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14639529 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:11294 arteriovenous malformation ISO RGD:732468 D RGD:9068941 20200609 RGD PMID:15917201|REF_RGD_ID:1581296 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:732468 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:18446851|PMID:24038909|PMID:25741868|PMID:28295764|PMID:28492532|PMID:29891884 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:2513 basal cell carcinoma ISO RGD:732468 D RGD:7240710 20230505 OMIM 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:2513 basal cell carcinoma ISO RGD:732468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:18446851|PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:28492532|PMID:29891884|PMID:8275088 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:732468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:305 carcinoma ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:630 genetic disease ISO RGD:732468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9001616 Port-Wine Stain ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14639529 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9001616 Port-Wine Stain ISO RGD:732468 D RGD:9068941 20200609 RGD DNA:mutations:exons:multiple (human) PMID:14639529|REF_RGD_ID:734495 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9003191 Vascular Malformations ISO RGD:732468 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Vascular malformation PMID:18363760|PMID:18446851|PMID:24038909|PMID:25040287|PMID:25741868|PMID:28492532|PMID:29891884 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732469 D RGD:9068941 20200609 RGD in males;protein:decreased expression:heart left ventricle (mouse) PMID:24157234|REF_RGD_ID:9999450 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:732468 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome PMID:14639529|PMID:16199547|PMID:17576681|PMID:18446851|PMID:21626678|PMID:22200646|PMID:23164092|PMID:23650393|PMID:23687085|PMID:23801933|PMID:24038909|PMID:24139535|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26499346|PMID:26774077|PMID:27081547|PMID:27535533|PMID:28295764|PMID:28492532|PMID:28655553|PMID:29024832|PMID:29110021|PMID:29120072|PMID:29171923|PMID:29891884|PMID:30026675|PMID:30120215|PMID:35209959|PMID:9536098 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation susceptibility ISO RGD:732468 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:14639529|REF_RGD_ID:734495 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9006290 Central Nervous System Venous Angioma ISO RGD:732468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral venous angioma PMID:23650393|PMID:25741868|PMID:31680349 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9007729 Multiple Basal Cell Carcinoma ISO RGD:732468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, multiple PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:28492532 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:732468 D RGD:7240710 20190327 OMIM 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:732468 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 PMID:14639529|PMID:16199547|PMID:18363760|PMID:18446851|PMID:22200646|PMID:23164092|PMID:23801933|PMID:24038909|PMID:25040287|PMID:25326637|PMID:25741868|PMID:26499346|PMID:27081547|PMID:27535533|PMID:28492532|PMID:28655553|PMID:29891884 8823950 Rasa1 RAS p21 protein activator 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:732468 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Capillary infantile hemangioma PMID:25741868 8823979 Dph2 diphthamide biosynthesis 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 8823979 Dph2 diphthamide biosynthesis 2 gene DOID:0070476 diphthamide deficiency syndrome ISO RGD:1312184 D RGD:8554872 20231024 ClinVar ClinVar Annotator: match by term: diphthamide-deficiency syndrome PMID:25741868|PMID:27421267|PMID:32576952 8823979 Dph2 diphthamide biosynthesis 2 gene DOID:0070478 diphthamide deficiency syndrome 2 ISO RGD:1312184 D RGD:7240710 20221123 OMIM 8823979 Dph2 diphthamide biosynthesis 2 gene DOID:0070478 diphthamide deficiency syndrome 2 ISO RGD:1312184 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 PMID:25741868|PMID:27421267|PMID:32576952 8823979 Dph2 diphthamide biosynthesis 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8823979 Dph2 diphthamide biosynthesis 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 8823979 Dph2 diphthamide biosynthesis 2 gene DOID:630 genetic disease ISO RGD:1312184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8823979 Dph2 diphthamide biosynthesis 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1312184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32576952 8823997 Spg7 SPG7 matrix AAA peptidase subunit, paraplegin gene DOID:0110816 hereditary spastic paraplegia 7 ISO RGD:1551589 D RGD:9068941 20220825 MouseDO OMIM:607259 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:25741868 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:14566 disease of cellular proliferation ISO RGD:1316326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18239605 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:2526 prostate adenocarcinoma ameliorates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:prostate gland (human) PMID:31964418|REF_RGD_ID:153344516 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:lung (human) PMID:31964418|REF_RGD_ID:153344516 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:3948 adrenocortical carcinoma exacerbates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:4467 clear cell renal cell carcinoma ameliorates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:increased expression:bile duct (human) PMID:31964418|REF_RGD_ID:153344516 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:5419 schizophrenia ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:607 paraplegia ISO RGD:1316326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:630 genetic disease ISO RGD:1316326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824021 Birc6 baculoviral IAP repeat containing 6 gene DOID:9003654 Testicular Germ Cell Tumor disease_progression ISO RGD:1316326 D RGD:9068941 20220818 RGD mRNA:decreased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 8824098 Blvra biliverdin reductase A gene DOID:0080600 COVID-19 ISO RGD:733010 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8824098 Blvra biliverdin reductase A gene DOID:13580 cholestasis ISO RGD:733010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18706437 8824098 Blvra biliverdin reductase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8824098 Blvra biliverdin reductase A gene DOID:630 genetic disease ISO RGD:733010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8824098 Blvra biliverdin reductase A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8824098 Blvra biliverdin reductase A gene DOID:9008068 Hyperbiliverdinemia ISO RGD:733010 D RGD:7240710 20180130 OMIM 8824098 Blvra biliverdin reductase A gene DOID:9008068 Hyperbiliverdinemia ISO RGD:733010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperbiliverdinemia PMID:19580635|PMID:21278388|PMID:25741868 8824130 Calm1 calmodulin 1 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735369 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23040497|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532 8824130 Calm1 calmodulin 1 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23040497|PMID:23388215|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532 8824130 Calm1 calmodulin 1 gene DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 ISO RGD:735369 D RGD:7240710 20180130 OMIM 8824130 Calm1 calmodulin 1 gene DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 ISO RGD:735369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 4 PMID:11569915|PMID:23040497|PMID:23388215|PMID:24563457|PMID:24816216|PMID:24958779|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:26969752|PMID:27165696|PMID:27374306|PMID:27927985|PMID:28158429|PMID:28492532 8824130 Calm1 calmodulin 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:735369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8824130 Calm1 calmodulin 1 gene DOID:0110655 long QT syndrome 14 ISO RGD:735369 D RGD:7240710 20180130 OMIM 8824130 Calm1 calmodulin 1 gene DOID:0110655 long QT syndrome 14 ISO RGD:735369 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome 14 PMID:17576681|PMID:23040497|PMID:23388215|PMID:24076290|PMID:24563457|PMID:24816216|PMID:25036739|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:26969752|PMID:27165696|PMID:28158429|PMID:28492532|PMID:31454269|PMID:9536098 8824130 Calm1 calmodulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11470324 8824130 Calm1 calmodulin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735369 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellar cortex: PMID:11470324|REF_RGD_ID:13792493 8824130 Calm1 calmodulin 1 gene DOID:5062 phencyclidine abuse ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8824130 Calm1 calmodulin 1 gene DOID:9004657 Weight Gain ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8824130 Calm1 calmodulin 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8824130 Calm1 calmodulin 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:735369 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:23040497|PMID:24563457|PMID:24816216|PMID:25557436|PMID:25741868|PMID:26164367|PMID:26309258|PMID:27165696|PMID:28492532 8824130 Calm1 calmodulin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2257 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:21216827|REF_RGD_ID:6892953 8824130 Calm1 calmodulin 1 gene DOID:9505 cannabis abuse ISO RGD:735369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8824140 Sh2d1b SH2 domain containing 1B gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8824140 Sh2d1b SH2 domain containing 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1606747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8824140 Sh2d1b SH2 domain containing 1B gene DOID:630 genetic disease ISO RGD:1606747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824140 Sh2d1b SH2 domain containing 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8824148 Abca7 ATP binding cassette subfamily A member 7 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8824148 Abca7 ATP binding cassette subfamily A member 7 gene DOID:0111364 Alzheimer's disease 9 ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET | ClinVar Annotator: match by term: Alzheimer disease 9 PMID:25741868|PMID:25807283|PMID:26141617|PMID:27066581|PMID:28492532|PMID:28789839 8824148 Abca7 ATP binding cassette subfamily A member 7 gene DOID:0111364 Alzheimer's disease 9 susceptibility ISO RGD:1601775 D RGD:7240710 20190502 OMIM 8824148 Abca7 ATP binding cassette subfamily A member 7 gene DOID:10652 Alzheimer's disease ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868|PMID:25807283|PMID:26141617|PMID:27066581|PMID:28492532 8824148 Abca7 ATP binding cassette subfamily A member 7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1601775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8824148 Abca7 ATP binding cassette subfamily A member 7 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1601775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 8824148 Abca7 ATP binding cassette subfamily A member 7 gene DOID:5339 cyclic hematopoiesis ISO RGD:1601775 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8824148 Abca7 ATP binding cassette subfamily A member 7 gene DOID:630 genetic disease ISO RGD:1601775 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8824148 Abca7 ATP binding cassette subfamily A member 7 gene DOID:9000918 Disease Progression ISO RGD:1601775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8824148 Abca7 ATP binding cassette subfamily A member 7 gene DOID:9006836 Contracture ISO RGD:1601775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8824148 Abca7 ATP binding cassette subfamily A member 7 gene DOID:9255 frontotemporal dementia ISO RGD:1601775 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26101835|PMID:28097223|PMID:28400126|PMID:28789839|PMID:30924900|PMID:31836585 8824204 Papolb poly(A) polymerase beta gene DOID:630 genetic disease ISO RGD:1322134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824205 Ass1 argininosuccinate synthase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8824205 Ass1 argininosuccinate synthase 1 gene DOID:0070340 classic citrullinemia ISO RGD:736136 D RGD:7240710 20200228 OMIM 8824205 Ass1 argininosuccinate synthase 1 gene DOID:0070340 classic citrullinemia ISO RGD:736136 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20724589|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:32778825|PMID:32860008|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098 8824205 Ass1 argininosuccinate synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:736136 D RGD:9068941 20200609 RGD protein:increased expression:brain, glial cell (human) PMID:11556547|REF_RGD_ID:4139898 8824205 Ass1 argininosuccinate synthase 1 gene DOID:11713 diabetic angiopathy ISO RGD:736136 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25033204 8824205 Ass1 argininosuccinate synthase 1 gene DOID:13141 uveitis ISO RGD:2163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye (rat) PMID:12470967|REF_RGD_ID:631755 8824205 Ass1 argininosuccinate synthase 1 gene DOID:1909 melanoma ISO RGD:736136 D RGD:9068941 20200609 RGD PMID:12359751|REF_RGD_ID:4140479 8824205 Ass1 argininosuccinate synthase 1 gene DOID:409 liver disease ISO RGD:736136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31651977 8824205 Ass1 argininosuccinate synthase 1 gene DOID:630 genetic disease ISO RGD:736136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11708871|PMID:11941481|PMID:12815590|PMID:16475226|PMID:17576681|PMID:18473344|PMID:19006241|PMID:19358837|PMID:19684305|PMID:20005624|PMID:20818742|PMID:23246278|PMID:23430935|PMID:2358466|PMID:25433810|PMID:25741868|PMID:27287393|PMID:28111830|PMID:28492532|PMID:30285816|PMID:31469252|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9536098 8824205 Ass1 argininosuccinate synthase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736136 D RGD:9068941 20200609 RGD PMID:12359751|REF_RGD_ID:4140479 8824205 Ass1 argininosuccinate synthase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736136 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2163 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:19914391|REF_RGD_ID:4140452 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9002669 Hypoxia ISO RGD:2163 D RGD:9068941 20200609 RGD protein:increased activity:brain (rat) PMID:20567615|REF_RGD_ID:4110824 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9004009 Reperfusion Injury resistance ISO RGD:2163 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron (rat) PMID:17198704|REF_RGD_ID:1599263 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:736136 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9004713 Acute-Phase Reaction ISO RGD:2163 D RGD:9068941 20200609 RGD PMID:15698416|REF_RGD_ID:1599305 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta (rat) PMID:11384198|REF_RGD_ID:1599310 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9005930 Endotoxemia ISO RGD:2163 D RGD:9068941 20200609 RGD PMID:10652239|REF_RGD_ID:1599265 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:2163 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20544730|REF_RGD_ID:4140449 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9007480 Hyperoxia ISO RGD:2163 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:20805789|REF_RGD_ID:4142785 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9007874 Liver Failure ISO RGD:2163 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9008972 Hyperammonemia ISO RGD:2163 D RGD:9068941 20200609 RGD PMID:10353334|REF_RGD_ID:1599267 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27287393|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30904546|PMID:31056765|PMID:31469252|PMID:31980526|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30904546|PMID:31056765|PMID:31469252|PMID:31980526|PMID:32778825|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20724589|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:31980526|PMID:32778825|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia ISO RGD:736136 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20724589|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:31980526|PMID:32778825|PMID:33851512|PMID:35085585|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098 8824205 Ass1 argininosuccinate synthase 1 gene DOID:9273 citrullinemia susceptibility ISO RGD:736136 D RGD:9068941 20200609 RGD PMID:7557970|REF_RGD_ID:1599301 8824225 Tafa2 TAFA chemokine like family member 2 gene DOID:2030 anxiety disorder ISO RGD:1345895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29339520 8824225 Tafa2 TAFA chemokine like family member 2 gene DOID:630 genetic disease ISO RGD:1345895 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824225 Tafa2 TAFA chemokine like family member 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1345895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29339520 8824239 Tshz2 teashirt zinc finger homeobox 2 gene DOID:0080600 COVID-19 ISO RGD:1353516 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8824239 Tshz2 teashirt zinc finger homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1353516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8824239 Tshz2 teashirt zinc finger homeobox 2 gene DOID:13938 amenorrhea ISO RGD:1353516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8824239 Tshz2 teashirt zinc finger homeobox 2 gene DOID:630 genetic disease ISO RGD:1353516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1315233 D RGD:7240710 20180130 OMIM 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1315233 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arterial tortuosity syndrome PMID:12801113|PMID:14569121|PMID:16199547|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18565096|PMID:18774132|PMID:18818946|PMID:19028722|PMID:19622975|PMID:19781076|PMID:22488877|PMID:23410549|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25373504|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:28855619|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:30425910|PMID:32368696|PMID:33144682|PMID:34498425|PMID:34668355|PMID:34847858|PMID:9536098 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:0060797 hypomyelinating leukodystrophy 8 ISO RGD:1315233 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1315233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:28492532 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315233 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:14569121|PMID:16550171|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:9536098 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315233 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:14569121|PMID:16550171|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28726533|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:9536098 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315233 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:34847858|PMID:9536098 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1315233 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:14569121|PMID:16550171|PMID:17163528|PMID:17576681|PMID:17935213|PMID:18774132|PMID:19028722|PMID:19781076|PMID:22488877|PMID:23142374|PMID:23494979|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:26376865|PMID:27153185|PMID:28492532|PMID:28726533|PMID:28829359|PMID:29323665|PMID:29543232|PMID:29907982|PMID:30090112|PMID:33144682|PMID:34668355|PMID:34847858|PMID:9536098 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1315233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:2234 focal epilepsy ISO RGD:1315233 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:630 genetic disease ISO RGD:1315233 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1315233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25741868|PMID:28492532 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1315233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1315233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 8824245 Slc2a10 solute carrier family 2 member 10 gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:1315233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:25741868|PMID:28492532 8824262 LOC102018506 cytochrome c oxidase subunit 4 isoform 2, mitochondrial gene DOID:630 genetic disease ISO RGD:735839 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8824262 LOC102018506 cytochrome c oxidase subunit 4 isoform 2, mitochondrial gene DOID:9005288 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis ISO RGD:735839 D RGD:7240710 20180130 OMIM 8824262 LOC102018506 cytochrome c oxidase subunit 4 isoform 2, mitochondrial gene DOID:9005288 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis ISO RGD:735839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis PMID:19268275|PMID:25741868|PMID:28492532 8824283 Commd1 copper metabolism domain containing 1 gene DOID:1205 allergic disease ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22216203 8824283 Commd1 copper metabolism domain containing 1 gene DOID:5082 liver cirrhosis ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17919502 8824283 Commd1 copper metabolism domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1323402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8824283 Commd1 copper metabolism domain containing 1 gene DOID:630 genetic disease ISO RGD:1323402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824283 Commd1 copper metabolism domain containing 1 gene DOID:893 Wilson disease ISO RGD:12302435 D RGD:9068941 20230928 OMIA Copper toxicosis, COMMD1-related PMID:10384054|PMID:10442980|PMID:10585777|PMID:10772489|PMID:10803990|PMID:10818210|PMID:10901220|PMID:11234968|PMID:11393371|PMID:11809725|PMID:12450209|PMID:12547404|PMID:12648098|PMID:12816967|PMID:12925897|PMID:1380748|PMID:14568250|PMID:15028882|PMID:15205742|PMID:15566097|PMID:16293123|PMID:16649058|PMID:16868807|PMID:17099181|PMID:17355395|PMID:17572118|PMID:18305350|PMID:22029820|PMID:22879914|PMID:24758744|PMID:31179308|PMID:31504675|PMID:31557851|PMID:32053895|PMID:33129558|PMID:3343179|PMID:33668783|PMID:37038639|PMID:37594835|PMID:37741465|PMID:6639527|PMID:6710813|PMID:6869968|PMID:6939891|PMID:7065120|PMID:7114265|PMID:7212417|PMID:8432554|PMID:8989491|PMID:9587195|PMID:9949209 8824283 Commd1 copper metabolism domain containing 1 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 8824283 Commd1 copper metabolism domain containing 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583003 8824283 Commd1 copper metabolism domain containing 1 gene DOID:9006855 Dog Diseases ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17919502 8824283 Commd1 copper metabolism domain containing 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:1323402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914|PMID:25053573 8824295 Dffa DNA fragmentation factor subunit alpha gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8824295 Dffa DNA fragmentation factor subunit alpha gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606338 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8824295 Dffa DNA fragmentation factor subunit alpha gene DOID:0111936 immunodeficiency 14 ISO RGD:1606338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8824295 Dffa DNA fragmentation factor subunit alpha gene DOID:630 genetic disease ISO RGD:1606338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824296 Rab7a RAB7A, member RAS oncogene family gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 8824296 Rab7a RAB7A, member RAS oncogene family gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1351789 D RGD:7240710 20180130 OMIM 8824296 Rab7a RAB7A, member RAS oncogene family gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1351789 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B PMID:10636124|PMID:11094113|PMID:12545426|PMID:15455439|PMID:17060578|PMID:17576681|PMID:18272684|PMID:18501189|PMID:19531583|PMID:19651702|PMID:20028791|PMID:21151572|PMID:22971099|PMID:23179371|PMID:23188822|PMID:23458836|PMID:24344282|PMID:24498653|PMID:24521780|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26791407|PMID:27462242|PMID:28492532|PMID:29130394|PMID:32326241|PMID:33846303|PMID:35887194|PMID:9536098 8824296 Rab7a RAB7A, member RAS oncogene family gene DOID:0111947 immunodeficiency 21 ISO RGD:1351789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:22147895|PMID:23223431|PMID:28492532 8824296 Rab7a RAB7A, member RAS oncogene family gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10636124|PMID:11094113|PMID:12545426|PMID:15455439|PMID:17060578|PMID:18272684|PMID:19531583|PMID:19651702|PMID:20028791|PMID:21151572|PMID:22971099|PMID:23179371|PMID:23188822|PMID:24498653|PMID:24521780|PMID:25741868|PMID:26467025|PMID:26791407|PMID:27462242|PMID:28492532|PMID:29130394 8824296 Rab7a RAB7A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1351789 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8824296 Rab7a RAB7A, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1351789 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8824296 Rab7a RAB7A, member RAS oncogene family gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708 8824296 Rab7a RAB7A, member RAS oncogene family gene DOID:9240 erythromelalgia ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy 8824296 Rab7a RAB7A, member RAS oncogene family gene DOID:9270 alkaptonuria ISO RGD:1351789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:0060058 lymphoma ISO RGD:1312218 D RGD:9068941 20230413 RGD PMID:11423979|REF_RGD_ID:1599865 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1312218 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:25741868 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:10283 prostate cancer ISO RGD:1312218 D RGD:7240710 20180418 OMIM 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:630 genetic disease ISO RGD:1312218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1312218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:1312218 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:11423979|PMID:25741868 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312218 D RGD:9068941 20200609 RGD PMID:11423979|REF_RGD_ID:1599865 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1312218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666239 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1312218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9006369 Mosaic Variegated Aneuploidy Syndrome 7 ISO RGD:1312218 D RGD:7240710 20230125 OMIM 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9006369 Mosaic Variegated Aneuploidy Syndrome 7 ISO RGD:1312218 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition PMID:36322655 8824306 Mad1l1 mitotic arrest deficient 1 like 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1312218 D RGD:9068941 20200609 RGD PMID:11423979|REF_RGD_ID:1599865 8824360 Rpl7l1 ribosomal protein L7 like 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1352288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8824360 Rpl7l1 ribosomal protein L7 like 1 gene DOID:630 genetic disease ISO RGD:1352288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824360 Rpl7l1 ribosomal protein L7 like 1 gene DOID:905 Zellweger syndrome ISO RGD:1352288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8824381 Atad1 ATPase family AAA domain containing 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1318420 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8824381 Atad1 ATPase family AAA domain containing 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1318420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8824381 Atad1 ATPase family AAA domain containing 1 gene DOID:0080581 hyperekplexia 4 ISO RGD:1318420 D RGD:7240710 20190315 OMIM 8824381 Atad1 ATPase family AAA domain containing 1 gene DOID:0080581 hyperekplexia 4 ISO RGD:1318420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperekplexia 4 PMID:25741868|PMID:28180185|PMID:28492532|PMID:29390050|PMID:29659736|PMID:33134516 8824381 Atad1 ATPase family AAA domain containing 1 gene DOID:630 genetic disease ISO RGD:1318420 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8824404 Trappc3l trafficking protein particle complex subunit 3L gene DOID:0060163 body dysmorphic disorder ISO RGD:1342888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8824404 Trappc3l trafficking protein particle complex subunit 3L gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1342888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8824404 Trappc3l trafficking protein particle complex subunit 3L gene DOID:1059 intellectual disability ISO RGD:1342888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8824404 Trappc3l trafficking protein particle complex subunit 3L gene DOID:10907 microcephaly ISO RGD:1342888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8824404 Trappc3l trafficking protein particle complex subunit 3L gene DOID:1826 epilepsy ISO RGD:1342888 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8824404 Trappc3l trafficking protein particle complex subunit 3L gene DOID:630 genetic disease ISO RGD:1342888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824404 Trappc3l trafficking protein particle complex subunit 3L gene DOID:9000495 Tremor ISO RGD:1342888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8824466 Dnajc22 DnaJ heat shock protein family (Hsp40) member C22 gene DOID:630 genetic disease ISO RGD:1602458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824474 Spaca1 sperm acrosome associated 1 gene DOID:630 genetic disease ISO RGD:1344211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824474 Spaca1 sperm acrosome associated 1 gene DOID:9007726 Spermatogenic Failure 85 ISO RGD:1344211 D RGD:7240710 20230906 OMIM 8824474 Spaca1 sperm acrosome associated 1 gene DOID:9007726 Spermatogenic Failure 85 ISO RGD:1344211 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 85 PMID:34172998 8824491 Ubn1 ubinuclein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1323115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 8824491 Ubn1 ubinuclein 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1323115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 8824522 Kcnk10 potassium two pore domain channel subfamily K member 10 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:732934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 8824522 Kcnk10 potassium two pore domain channel subfamily K member 10 gene DOID:2316 brain ischemia ISO RGD:619732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, hippocampus (rat) PMID:15652517|REF_RGD_ID:9831167 8824522 Kcnk10 potassium two pore domain channel subfamily K member 10 gene DOID:630 genetic disease ISO RGD:732934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824522 Kcnk10 potassium two pore domain channel subfamily K member 10 gene DOID:9008681 Deafness ISO RGD:619732 D RGD:9068941 20200609 RGD mRNA:decreased expression:inferior colliculus (rat) PMID:17884299|REF_RGD_ID:2316516 8824533 Ddx59 DEAD-box helicase 59 gene DOID:0060375 orofaciodigital syndrome V ISO RGD:1606490 D RGD:7240710 20180130 OMIM 8824533 Ddx59 DEAD-box helicase 59 gene DOID:0060375 orofaciodigital syndrome V ISO RGD:1606490 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome V PMID:16278897|PMID:23972372|PMID:25741868|PMID:28492532|PMID:28711741|PMID:29127725|PMID:34008892 8824533 Ddx59 DEAD-box helicase 59 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8824533 Ddx59 DEAD-box helicase 59 gene DOID:1540 parathyroid carcinoma ISO RGD:1606490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8824533 Ddx59 DEAD-box helicase 59 gene DOID:630 genetic disease ISO RGD:1606490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8824533 Ddx59 DEAD-box helicase 59 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606490 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8824533 Ddx59 DEAD-box helicase 59 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8824548 Rpp25 ribonuclease P and MRP subunit p25 gene DOID:12849 autistic disorder ISO RGD:1313231 D RGD:9068941 20200609 RGD mRNA:decreased expression:prefrontal cortex PMID:20632321|REF_RGD_ID:9743931 8824548 Rpp25 ribonuclease P and MRP subunit p25 gene DOID:2717 Bloom syndrome ISO RGD:1313231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8824548 Rpp25 ribonuclease P and MRP subunit p25 gene DOID:5419 schizophrenia ISO RGD:1313231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8824548 Rpp25 ribonuclease P and MRP subunit p25 gene DOID:630 genetic disease ISO RGD:1313231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824548 Rpp25 ribonuclease P and MRP subunit p25 gene DOID:9256 colorectal cancer ISO RGD:1313231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8824553 Ccs copper chaperone for superoxide dismutase gene DOID:1059 intellectual disability ISO RGD:733606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8824553 Ccs copper chaperone for superoxide dismutase gene DOID:1289 neurodegenerative disease ISO RGD:733606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:22243965|PMID:22508683 8824553 Ccs copper chaperone for superoxide dismutase gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:733606 D RGD:9068941 20200609 RGD PMID:26826269|REF_RGD_ID:13524551 8824553 Ccs copper chaperone for superoxide dismutase gene DOID:5113 nutritional deficiency disease ISO RGD:733606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12514262 8824553 Ccs copper chaperone for superoxide dismutase gene DOID:630 genetic disease ISO RGD:733606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824553 Ccs copper chaperone for superoxide dismutase gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:733606 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8824553 Ccs copper chaperone for superoxide dismutase gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:733606 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8824553 Ccs copper chaperone for superoxide dismutase gene DOID:9008510 Chronic Hepatitis ISO RGD:733606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 8824583 Ankrd6 ankyrin repeat domain 6 gene DOID:630 genetic disease ISO RGD:1317569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824623 Pxt1 peroxisomal testis enriched protein 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1349206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8824623 Pxt1 peroxisomal testis enriched protein 1 gene DOID:630 genetic disease ISO RGD:1349206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824632 Zscan20 zinc finger and SCAN domain containing 20 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8824632 Zscan20 zinc finger and SCAN domain containing 20 gene DOID:630 genetic disease ISO RGD:1353276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824644 Oaf out at first homolog gene DOID:0060017 CD3epsilon deficiency ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8824644 Oaf out at first homolog gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8824644 Oaf out at first homolog gene DOID:0080690 RASopathy ISO RGD:1602422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8824644 Oaf out at first homolog gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8824644 Oaf out at first homolog gene DOID:0111971 immunodeficiency 18 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8824644 Oaf out at first homolog gene DOID:0111972 immunodeficiency 19 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8824644 Oaf out at first homolog gene DOID:0111973 immunodeficiency 17 ISO RGD:1602422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8824644 Oaf out at first homolog gene DOID:5419 schizophrenia ISO RGD:1602422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8824644 Oaf out at first homolog gene DOID:630 genetic disease ISO RGD:1602422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824644 Oaf out at first homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8824644 Oaf out at first homolog gene DOID:9007661 Dwarfism ISO RGD:1602422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8824652 Gng3 G protein subunit gamma 3 gene DOID:0050788 proximal symphalangism ISO RGD:1350428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger 8824652 Gng3 G protein subunit gamma 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8824652 Gng3 G protein subunit gamma 3 gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:1350428 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 PMID:25741868 8824652 Gng3 G protein subunit gamma 3 gene DOID:1059 intellectual disability ISO RGD:1350428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8824652 Gng3 G protein subunit gamma 3 gene DOID:3459 breast carcinoma ISO RGD:1350428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma 8824652 Gng3 G protein subunit gamma 3 gene DOID:630 genetic disease ISO RGD:1350428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824652 Gng3 G protein subunit gamma 3 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1350428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity 8824652 Gng3 G protein subunit gamma 3 gene DOID:9351 diabetes mellitus ISO RGD:1350428 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:26467025 8824659 Gatc glutamyl-tRNA amidotransferase subunit C gene DOID:0112118 combined oxidative phosphorylation deficiency 42 ISO RGD:1606925 D RGD:7240710 20200520 OMIM 8824659 Gatc glutamyl-tRNA amidotransferase subunit C gene DOID:0112118 combined oxidative phosphorylation deficiency 42 ISO RGD:1606925 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 42 PMID:25741868|PMID:30283131 8824659 Gatc glutamyl-tRNA amidotransferase subunit C gene DOID:630 genetic disease ISO RGD:1606925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824659 Gatc glutamyl-tRNA amidotransferase subunit C gene DOID:9000777 Mitochondrial Cardiomyopathy ISO RGD:1606925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial PMID:30283131 8824667 Cadps2 calcium dependent secretion activator 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1557036 D RGD:9068941 20220825 MouseDO 8824667 Cadps2 calcium dependent secretion activator 2 gene DOID:12849 autistic disorder ISO RGD:1342691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17380209 8824667 Cadps2 calcium dependent secretion activator 2 gene DOID:13580 cholestasis ISO RGD:1342691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8824667 Cadps2 calcium dependent secretion activator 2 gene DOID:303 substance-related disorder ISO RGD:1342691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8824667 Cadps2 calcium dependent secretion activator 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8824667 Cadps2 calcium dependent secretion activator 2 gene DOID:630 genetic disease ISO RGD:1342691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824667 Cadps2 calcium dependent secretion activator 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8824698 Top2b DNA topoisomerase II beta gene DOID:0060041 autism spectrum disorder ISO RGD:1350637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 8824698 Top2b DNA topoisomerase II beta gene DOID:0060728 NGLY1-deficiency ISO RGD:1350637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation PMID:24651605|PMID:28492532 8824698 Top2b DNA topoisomerase II beta gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:1350637 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 12 PMID:24651605|PMID:28492532 8824698 Top2b DNA topoisomerase II beta gene DOID:630 genetic disease ISO RGD:1350637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8824698 Top2b DNA topoisomerase II beta gene DOID:8634 prostate carcinoma in situ ISO RGD:1350637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601956 8824698 Top2b DNA topoisomerase II beta gene DOID:8692 myeloid leukemia ISO RGD:1350637 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16932348 8824698 Top2b DNA topoisomerase II beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350637 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: TOP2B-related neurodevelopmental disorder PMID:25741868|PMID:28492532 8824698 Top2b DNA topoisomerase II beta gene DOID:9007742 B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations ISO RGD:1350637 D RGD:7240710 20211110 OMIM 8824698 Top2b DNA topoisomerase II beta gene DOID:9007742 B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations ISO RGD:1350637 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | ClinVar Annotator: match by term: TOP2B-related condition PMID:11152140|PMID:11476068|PMID:15521984|PMID:21204224|PMID:22002929|PMID:25741868|PMID:28492532|PMID:31409799|PMID:32128574|PMID:33459963 8824737 Snorc secondary ossification center associated regulator of chondrocyte maturation gene DOID:0060476 Perlman syndrome ISO RGD:1606085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8824737 Snorc secondary ossification center associated regulator of chondrocyte maturation gene DOID:0110991 Joubert syndrome 22 ISO RGD:1606085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8824750 Npas3 neuronal PAS domain protein 3 gene DOID:5419 schizophrenia ISO RGD:1316218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8824750 Npas3 neuronal PAS domain protein 3 gene DOID:630 genetic disease ISO RGD:1316218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824750 Npas3 neuronal PAS domain protein 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316218 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8824773 Ank3 ankyrin 3 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29109170 8824773 Ank3 ankyrin 3 gene DOID:0050902 medulloblastoma ISO RGD:1318779 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Classic medulloblastoma 8824773 Ank3 ankyrin 3 gene DOID:0081202 autosomal recessive intellectual developmental disorder 37 ISO RGD:1318779 D RGD:7240710 20180130 OMIM 8824773 Ank3 ankyrin 3 gene DOID:0081202 autosomal recessive intellectual developmental disorder 37 ISO RGD:1318779 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ANK3-related condition | ClinVar Annotator: match by term: Intellectual disability-hypotonia-spasticity-sleep disorder syndrome PMID:22865819|PMID:23390136|PMID:25741868|PMID:28492532|PMID:29302074|PMID:31451636|PMID:34356170 8824773 Ank3 ankyrin 3 gene DOID:0081227 autosomal recessive intellectual developmental disorder 66 ISO RGD:1318779 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive 66 PMID:25741868 8824773 Ank3 ankyrin 3 gene DOID:1059 intellectual disability ISO RGD:1318779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8824773 Ank3 ankyrin 3 gene DOID:12849 autistic disorder ISO RGD:1318779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:22865819|PMID:25741868 8824773 Ank3 ankyrin 3 gene DOID:1824 status epilepticus ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19306853 8824773 Ank3 ankyrin 3 gene DOID:1824 status epilepticus ISO RGD:620157 D RGD:9068941 20200609 RGD PMID:19306853|REF_RGD_ID:6767290 8824773 Ank3 ankyrin 3 gene DOID:3312 bipolar disorder ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711365|PMID:21926974|PMID:31043756 8824773 Ank3 ankyrin 3 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1318779 D RGD:9068941 20220901 RGD DNS:SNPs:multiple:(human) PMID:33729739|REF_RGD_ID:153344594 8824773 Ank3 ankyrin 3 gene DOID:3911 progeria ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27217151 8824773 Ank3 ankyrin 3 gene DOID:5419 schizophrenia ISO RGD:1318779 D RGD:9068941 20220901 RGD mRNA,protein:decreased expression:superior temporal gyrus PMID:21893642|REF_RGD_ID:153344576 8824773 Ank3 ankyrin 3 gene DOID:5419 schizophrenia susceptibility ISO RGD:1318779 D RGD:9068941 20220901 RGD DNA:SNP: :rs9804190(human) PMID:21893642|REF_RGD_ID:153344576 8824773 Ank3 ankyrin 3 gene DOID:630 genetic disease ISO RGD:1318779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26350204|PMID:28492532 8824773 Ank3 ankyrin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:734217 D RGD:9068941 20220825 RGD protein:decreased expression:liver PMID:26652480|REF_RGD_ID:153344559 8824773 Ank3 ankyrin 3 gene DOID:9000998 Brain Injuries ISO RGD:620157 D RGD:9068941 20200609 RGD PMID:20557305|REF_RGD_ID:6767288 8824773 Ank3 ankyrin 3 gene DOID:9001234 Prenatal Exposure Delayed Effects susceptibility ISO RGD:1318779 D RGD:9068941 20220826 RGD DNA:SNP: : rs9804190(human) PMID:27824361|REF_RGD_ID:153344561 8824773 Ank3 ankyrin 3 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620157 D RGD:9068941 20200609 RGD mRNA:decreased expression:neuron PMID:10915577|REF_RGD_ID:6767305 8824773 Ank3 ankyrin 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1318779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8824773 Ank3 ankyrin 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1318779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8824773 Ank3 ankyrin 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1318779 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8824773 Ank3 ankyrin 3 gene DOID:9008330 Serrated Polyposis ISO RGD:1318779 D RGD:9068941 20220825 RGD DNA:hypomethylation:exon,mucosa: PMID:35447336|REF_RGD_ID:153344547 8824857 Mdga1 MAM domain containing glycosylphosphatidylinositol anchor 1 gene DOID:630 genetic disease ISO RGD:1315985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824857 Mdga1 MAM domain containing glycosylphosphatidylinositol anchor 1 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1315985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 8824881 Thumpd2 THUMP domain containing 2 gene DOID:3883 Lynch syndrome ISO RGD:1315745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8824881 Thumpd2 THUMP domain containing 2 gene DOID:630 genetic disease ISO RGD:1315745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824881 Thumpd2 THUMP domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8824899 Cdc45 cell division cycle 45 gene DOID:0060041 autism spectrum disorder ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8824899 Cdc45 cell division cycle 45 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1352573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8824899 Cdc45 cell division cycle 45 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1352573 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8824899 Cdc45 cell division cycle 45 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1352573 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8824899 Cdc45 cell division cycle 45 gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:25741868|PMID:28492532|PMID:31474763 8824899 Cdc45 cell division cycle 45 gene DOID:0080518 Meier-Gorlin syndrome 7 ISO RGD:1352573 D RGD:7240710 20190424 OMIM 8824899 Cdc45 cell division cycle 45 gene DOID:0080518 Meier-Gorlin syndrome 7 ISO RGD:1352573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 7 PMID:25741868|PMID:27374770|PMID:28492532|PMID:29036220|PMID:30986546 8824899 Cdc45 cell division cycle 45 gene DOID:0080600 COVID-19 ISO RGD:1352573 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8824899 Cdc45 cell division cycle 45 gene DOID:0111996 immunodeficiency 51 ISO RGD:1352573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8824899 Cdc45 cell division cycle 45 gene DOID:1059 intellectual disability ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8824899 Cdc45 cell division cycle 45 gene DOID:10907 microcephaly ISO RGD:1352573 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8824899 Cdc45 cell division cycle 45 gene DOID:11198 DiGeorge syndrome ISO RGD:1352573 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8824899 Cdc45 cell division cycle 45 gene DOID:11372 megacolon ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8824899 Cdc45 cell division cycle 45 gene DOID:12583 velocardiofacial syndrome ISO RGD:1352573 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8824899 Cdc45 cell division cycle 45 gene DOID:12849 autistic disorder ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8824899 Cdc45 cell division cycle 45 gene DOID:1826 epilepsy ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8824899 Cdc45 cell division cycle 45 gene DOID:4674 androgen insensitivity syndrome ISO RGD:1352573 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Androgen resistance syndrome PMID:25741868|PMID:28492532|PMID:31474763 8824899 Cdc45 cell division cycle 45 gene DOID:5419 schizophrenia ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8824899 Cdc45 cell division cycle 45 gene DOID:612 primary immunodeficiency disease ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8824899 Cdc45 cell division cycle 45 gene DOID:630 genetic disease ISO RGD:1352573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8824899 Cdc45 cell division cycle 45 gene DOID:684 hepatocellular carcinoma ISO RGD:1352573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8824899 Cdc45 cell division cycle 45 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8824899 Cdc45 cell division cycle 45 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1352573 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8824914 Slx1a SLX1 homolog A, structure-specific endonuclease subunit gene DOID:0060019 coronin-1A deficiency ISO RGD:1603444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION PMID:28492532 8824914 Slx1a SLX1 homolog A, structure-specific endonuclease subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1603444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8824914 Slx1a SLX1 homolog A, structure-specific endonuclease subunit gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1603444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:31690835 8824914 Slx1a SLX1 homolog A, structure-specific endonuclease subunit gene DOID:0090066 Fanconi-like syndrome ISO RGD:1551164 D RGD:9068941 20220825 MouseDO OMIM:227850 8824914 Slx1a SLX1 homolog A, structure-specific endonuclease subunit gene DOID:12849 autistic disorder ISO RGD:1603444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8824914 Slx1a SLX1 homolog A, structure-specific endonuclease subunit gene DOID:5419 schizophrenia ISO RGD:1603444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8824914 Slx1a SLX1 homolog A, structure-specific endonuclease subunit gene DOID:630 genetic disease ISO RGD:1603444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824923 S100p S100 calcium binding protein P gene DOID:11612 polycystic ovary syndrome ISO RGD:1344746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8824923 S100p S100 calcium binding protein P gene DOID:630 genetic disease ISO RGD:1344746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824923 S100p S100 calcium binding protein P gene DOID:9007364 Mouth Neoplasms ISO RGD:1344746 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31066245 8824938 Ak5 adenylate kinase 5 gene DOID:630 genetic disease ISO RGD:1353587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8824938 Ak5 adenylate kinase 5 gene DOID:670 amphetamine abuse ISO RGD:1353587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8824956 Clcc1 chloride channel CLIC like 1 gene DOID:0110355 retinitis pigmentosa 32 ISO RGD:1604384 D RGD:7240710 20200722 OMIM 8824956 Clcc1 chloride channel CLIC like 1 gene DOID:0110355 retinitis pigmentosa 32 ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 32 PMID:16189710|PMID:28492532|PMID:30157172 8824956 Clcc1 chloride channel CLIC like 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8824956 Clcc1 chloride channel CLIC like 1 gene DOID:12849 autistic disorder ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8824956 Clcc1 chloride channel CLIC like 1 gene DOID:630 genetic disease ISO RGD:1604384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8824956 Clcc1 chloride channel CLIC like 1 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chudley-McCullough syndrome PMID:24033266|PMID:25741868|PMID:28492532 8824956 Clcc1 chloride channel CLIC like 1 gene DOID:9004538 Hearing Loss ISO RGD:1604384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:30311386 8824995 Plcd3 phospholipase C delta 3 gene DOID:630 genetic disease ISO RGD:1322076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825018 Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 gene DOID:1825 childhood absence epilepsy ISO RGD:736548 D RGD:9068941 20200609 RGD PMID:11904235|REF_RGD_ID:728397 8825018 Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 gene DOID:4448 macular degeneration susceptibility ISO RGD:736548 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:21169531|REF_RGD_ID:13524556 8825018 Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 gene DOID:630 genetic disease ISO RGD:736548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825029 Slc27a4 solute carrier family 27 member 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8825029 Slc27a4 solute carrier family 27 member 4 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1316551 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:19631310|PMID:21450060|PMID:22927265|PMID:25741868|PMID:26783444|PMID:27025581|PMID:27224495|PMID:28492532|PMID:31595490 8825029 Slc27a4 solute carrier family 27 member 4 gene DOID:0060762 restrictive dermopathy ISO RGD:1316552 D RGD:9068941 20220825 MouseDO OMIM:275210 8825029 Slc27a4 solute carrier family 27 member 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8825029 Slc27a4 solute carrier family 27 member 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316551 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8825029 Slc27a4 solute carrier family 27 member 4 gene DOID:630 genetic disease ISO RGD:1316551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19631310|PMID:21450060|PMID:28492532 8825029 Slc27a4 solute carrier family 27 member 4 gene DOID:9001309 Ichthyosis Prematurity Syndrome ISO RGD:1316551 D RGD:7240710 20180130 OMIM 8825029 Slc27a4 solute carrier family 27 member 4 gene DOID:9001309 Ichthyosis Prematurity Syndrome ISO RGD:1316551 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ichthyosis prematurity syndrome PMID:19631310|PMID:21450060|PMID:22927265|PMID:25741868|PMID:26783444|PMID:27025581|PMID:27081519|PMID:27224495|PMID:28492532|PMID:30077338|PMID:30536735|PMID:31595490|PMID:33935161 8825029 Slc27a4 solute carrier family 27 member 4 gene DOID:9007692 Insulin Resistance ISO RGD:1316551 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:15168018|REF_RGD_ID:1625638 8825029 Slc27a4 solute carrier family 27 member 4 gene DOID:9452 steatotic liver disease ISO RGD:1307383 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:16248953|REF_RGD_ID:1625640 8825029 Slc27a4 solute carrier family 27 member 4 gene DOID:9970 obesity ISO RGD:1316551 D RGD:9068941 20200609 RGD mRNA:increased expression:subcutaneous adipose tissue PMID:15168018|REF_RGD_ID:1625638 8825045 Ecsit ECSIT signaling integrator gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8825045 Ecsit ECSIT signaling integrator gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8825045 Ecsit ECSIT signaling integrator gene DOID:0111254 glutaric acidemia I ISO RGD:1602709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8825045 Ecsit ECSIT signaling integrator gene DOID:3413 alpha-mannosidosis ISO RGD:1602709 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8825045 Ecsit ECSIT signaling integrator gene DOID:630 genetic disease ISO RGD:1602709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825057 Sox5 SRY-box transcription factor 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1603322 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8825057 Sox5 SRY-box transcription factor 5 gene DOID:0060224 atrial fibrillation ISO RGD:1603322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060 8825057 Sox5 SRY-box transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28708303 8825057 Sox5 SRY-box transcription factor 5 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tourette syndrome 8825057 Sox5 SRY-box transcription factor 5 gene DOID:540 strabismus ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 8825057 Sox5 SRY-box transcription factor 5 gene DOID:630 genetic disease ISO RGD:1603322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31578471 8825057 Sox5 SRY-box transcription factor 5 gene DOID:9002383 Lamb-Shaffer Syndrome ISO RGD:1603322 D RGD:7240710 20190315 OMIM 8825057 Sox5 SRY-box transcription factor 5 gene DOID:9002383 Lamb-Shaffer Syndrome ISO RGD:1603322 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Lamb-Shaffer syndrome PMID:22290657|PMID:23220431|PMID:23498568|PMID:25741868|PMID:26111154|PMID:28708303|PMID:31578471 8825057 Sox5 SRY-box transcription factor 5 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 8825057 Sox5 SRY-box transcription factor 5 gene DOID:9005603 Muscle Hypotonia ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 8825057 Sox5 SRY-box transcription factor 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8825057 Sox5 SRY-box transcription factor 5 gene DOID:9008582 Developmental Disease ISO RGD:1603322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8825113 Olfm1 olfactomedin 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8825113 Olfm1 olfactomedin 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8825113 Olfm1 olfactomedin 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733478 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8825113 Olfm1 olfactomedin 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8825113 Olfm1 olfactomedin 1 gene DOID:0081097 Rafiq syndrome ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8825113 Olfm1 olfactomedin 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8825113 Olfm1 olfactomedin 1 gene DOID:3652 Leigh disease ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8825113 Olfm1 olfactomedin 1 gene DOID:630 genetic disease ISO RGD:733478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825113 Olfm1 olfactomedin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8825113 Olfm1 olfactomedin 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 8825130 Epdr1 ependymin related 1 gene DOID:13550 angle-closure glaucoma ISO RGD:1343278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 8825130 Epdr1 ependymin related 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8825130 Epdr1 ependymin related 1 gene DOID:630 genetic disease ISO RGD:1343278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825151 Phpt1 phosphohistidine phosphatase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8825151 Phpt1 phosphohistidine phosphatase 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1322769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8825151 Phpt1 phosphohistidine phosphatase 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1322769 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8825151 Phpt1 phosphohistidine phosphatase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8825151 Phpt1 phosphohistidine phosphatase 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1322769 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8825151 Phpt1 phosphohistidine phosphatase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8825151 Phpt1 phosphohistidine phosphatase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322769 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8825151 Phpt1 phosphohistidine phosphatase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8825151 Phpt1 phosphohistidine phosphatase 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1322769 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8825151 Phpt1 phosphohistidine phosphatase 1 gene DOID:3652 Leigh disease ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8825151 Phpt1 phosphohistidine phosphatase 1 gene DOID:630 genetic disease ISO RGD:1322769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825151 Phpt1 phosphohistidine phosphatase 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1322769 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8825158 Mapk1ip1l mitogen-activated protein kinase 1 interacting protein 1 like gene DOID:630 genetic disease ISO RGD:1322925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825168 Emilin3 elastin microfibril interfacer 3 gene DOID:2234 focal epilepsy ISO RGD:1320036 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8825168 Emilin3 elastin microfibril interfacer 3 gene DOID:630 genetic disease ISO RGD:1320036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825168 Emilin3 elastin microfibril interfacer 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1320036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8825194 Eif3e eukaryotic translation initiation factor 3 subunit E gene DOID:3910 lung adenocarcinoma ISO RGD:1323023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8825194 Eif3e eukaryotic translation initiation factor 3 subunit E gene DOID:630 genetic disease ISO RGD:1323023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825194 Eif3e eukaryotic translation initiation factor 3 subunit E gene DOID:9006205 Animal Disease Models ISO RGD:1323023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8825216 Wdfy2 WD repeat and FYVE domain containing 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8825216 Wdfy2 WD repeat and FYVE domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1316474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8825216 Wdfy2 WD repeat and FYVE domain containing 2 gene DOID:630 genetic disease ISO RGD:1316474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825216 Wdfy2 WD repeat and FYVE domain containing 2 gene DOID:893 Wilson disease ISO RGD:1316474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 8825251 Parp6 poly(ADP-ribose) polymerase family member 6 gene DOID:2717 Bloom syndrome ISO RGD:1344996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8825251 Parp6 poly(ADP-ribose) polymerase family member 6 gene DOID:3320 Tay-Sachs disease ISO RGD:1344996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8825251 Parp6 poly(ADP-ribose) polymerase family member 6 gene DOID:630 genetic disease ISO RGD:1344996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825251 Parp6 poly(ADP-ribose) polymerase family member 6 gene DOID:9256 colorectal cancer ISO RGD:1344996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8825299 Sipa1 signal-induced proliferation-associated 1 gene DOID:10485 esophageal atresia ISO RGD:1346963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8825299 Sipa1 signal-induced proliferation-associated 1 gene DOID:1059 intellectual disability ISO RGD:1346963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8825299 Sipa1 signal-induced proliferation-associated 1 gene DOID:1909 melanoma ISO RGD:1346963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8825299 Sipa1 signal-induced proliferation-associated 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8825299 Sipa1 signal-induced proliferation-associated 1 gene DOID:2746 glycogen storage disease V ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8825299 Sipa1 signal-induced proliferation-associated 1 gene DOID:3070 high grade glioma ISO RGD:1346963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8825299 Sipa1 signal-induced proliferation-associated 1 gene DOID:630 genetic disease ISO RGD:1346963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825299 Sipa1 signal-induced proliferation-associated 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1553084 D RGD:9068941 20220825 MouseDO OMIM:608232 8825299 Sipa1 signal-induced proliferation-associated 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346963 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8825299 Sipa1 signal-induced proliferation-associated 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8825322 LOC102004837 dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase gene DOID:0110645 long QT syndrome 2 ISO RGD:1345350 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:15280551 8825322 LOC102004837 dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1345350 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825329 Rufy1 RUN and FYVE domain containing 1 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1312929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 8825329 Rufy1 RUN and FYVE domain containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1312929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8825329 Rufy1 RUN and FYVE domain containing 1 gene DOID:14748 Sotos syndrome ISO RGD:1312929 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8825329 Rufy1 RUN and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1312929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825360 Kmt5b lysine methyltransferase 5B gene DOID:0060041 autism spectrum disorder ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25363768|PMID:25741868|PMID:28191889|PMID:30504930 8825360 Kmt5b lysine methyltransferase 5B gene DOID:0080074 neural tube defect ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868|PMID:29276005 8825360 Kmt5b lysine methyltransferase 5B gene DOID:0080232 autosomal dominant intellectual developmental disorder 51 ISO RGD:1348608 D RGD:7240710 20190315 OMIM 8825360 Kmt5b lysine methyltransferase 5B gene DOID:0080232 autosomal dominant intellectual developmental disorder 51 ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 PMID:25363768|PMID:25741868|PMID:28191889|PMID:29276005|PMID:30504930 8825360 Kmt5b lysine methyltransferase 5B gene DOID:1059 intellectual disability ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8825360 Kmt5b lysine methyltransferase 5B gene DOID:5419 schizophrenia ISO RGD:1348608 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8825360 Kmt5b lysine methyltransferase 5B gene DOID:630 genetic disease ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825360 Kmt5b lysine methyltransferase 5B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1348608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8825360 Kmt5b lysine methyltransferase 5B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8825360 Kmt5b lysine methyltransferase 5B gene DOID:9005466 Language Development Disorders ISO RGD:1348608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Language retardation 8825360 Kmt5b lysine methyltransferase 5B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1348608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8825360 Kmt5b lysine methyltransferase 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1348608 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8825383 Radil Rap associating with DIL domain gene DOID:11372 megacolon ISO RGD:1604337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8825383 Radil Rap associating with DIL domain gene DOID:630 genetic disease ISO RGD:1604337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825405 Speg striated muscle enriched protein kinase gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8825405 Speg striated muscle enriched protein kinase gene DOID:0110431 dilated cardiomyopathy 1I ISO RGD:734132 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1I 8825405 Speg striated muscle enriched protein kinase gene DOID:0111216 autosomal recessive centronuclear myopathy ISO RGD:734132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8825405 Speg striated muscle enriched protein kinase gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:734132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532 8825405 Speg striated muscle enriched protein kinase gene DOID:0111222 centronuclear myopathy 5 ISO RGD:734132 D RGD:7240710 20180130 OMIM 8825405 Speg striated muscle enriched protein kinase gene DOID:0111222 centronuclear myopathy 5 ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 | ClinVar Annotator: match by term: SPEG-related condition PMID:25087613|PMID:25741868|PMID:28492532 8825405 Speg striated muscle enriched protein kinase gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8825405 Speg striated muscle enriched protein kinase gene DOID:1148 polydactyly ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8825405 Speg striated muscle enriched protein kinase gene DOID:422 congenital structural myopathy ISO RGD:734132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:25741868|PMID:28492532 8825405 Speg striated muscle enriched protein kinase gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8825405 Speg striated muscle enriched protein kinase gene DOID:630 genetic disease ISO RGD:734132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8825405 Speg striated muscle enriched protein kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8825460 Tmem50a transmembrane protein 50A gene DOID:630 genetic disease ISO RGD:1606813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825473 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1606546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:24026677|PMID:25741868|PMID:27799067|PMID:28492532 8825473 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:0081179 autosomal recessive intellectual developmental disorder 3 ISO RGD:1606546 D RGD:7240710 20180130 OMIM 8825473 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:0081179 autosomal recessive intellectual developmental disorder 3 ISO RGD:1606546 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 3 PMID:16033914|PMID:18414213|PMID:21102627|PMID:24026677|PMID:24033266|PMID:25066123|PMID:25741868|PMID:26350204|PMID:27799067|PMID:28492532|PMID:31354645|PMID:31980526|PMID:33287601|PMID:36553572 8825473 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:1059 intellectual disability ISO RGD:1606546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual disability PMID:24033266|PMID:25066123|PMID:25741868|PMID:28492532 8825473 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:630 genetic disease ISO RGD:1606546 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21102627|PMID:24026677|PMID:25741868|PMID:26350204|PMID:27799067|PMID:28492532|PMID:28518168|PMID:31031587|PMID:31354645|PMID:31980526|PMID:32461654|PMID:33287601|PMID:36553572 8825473 Cc2d1a coiled-coil and C2 domain containing 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1606546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 8825508 Tln1 talin 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1314756 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8825508 Tln1 talin 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8825508 Tln1 talin 1 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8825508 Tln1 talin 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1314756 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8825508 Tln1 talin 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8825508 Tln1 talin 1 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8825508 Tln1 talin 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1314756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8825508 Tln1 talin 1 gene DOID:11476 osteoporosis ISO RGD:1314756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8825508 Tln1 talin 1 gene DOID:14400 capillary leak syndrome ISO RGD:1314756 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Capillary leak syndrome PMID:25741868 8825508 Tln1 talin 1 gene DOID:630 genetic disease ISO RGD:1314756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825508 Tln1 talin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21291860 8825508 Tln1 talin 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314756 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8825508 Tln1 talin 1 gene DOID:9870 galactosemia ISO RGD:1314756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8825582 Prtfdc1 phosphoribosyl transferase domain containing 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1320925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17599052 8825582 Prtfdc1 phosphoribosyl transferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1320925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825582 Prtfdc1 phosphoribosyl transferase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8825582 Prtfdc1 phosphoribosyl transferase domain containing 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1320925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 8825582 Prtfdc1 phosphoribosyl transferase domain containing 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1320925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17599052 8825593 Dalrd3 DALR anticodon binding domain containing 3 gene DOID:0112220 developmental and epileptic encephalopathy 86 ISO RGD:1352602 D RGD:7240710 20200701 OMIM 8825593 Dalrd3 DALR anticodon binding domain containing 3 gene DOID:0112220 developmental and epileptic encephalopathy 86 ISO RGD:1352602 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 86 PMID:25741868|PMID:32427860 8825593 Dalrd3 DALR anticodon binding domain containing 3 gene DOID:630 genetic disease ISO RGD:1352602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825593 Dalrd3 DALR anticodon binding domain containing 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1352602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8825593 Dalrd3 DALR anticodon binding domain containing 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8825617 Znf142 zinc finger protein 142 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8825617 Znf142 zinc finger protein 142 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8825617 Znf142 zinc finger protein 142 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8825617 Znf142 zinc finger protein 142 gene DOID:1826 epilepsy ISO RGD:1320100 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8825617 Znf142 zinc finger protein 142 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8825617 Znf142 zinc finger protein 142 gene DOID:630 genetic disease ISO RGD:1320100 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30389958|PMID:35616059|PMID:35618198 8825617 Znf142 zinc finger protein 142 gene DOID:9000239 Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements ISO RGD:1320100 D RGD:7240710 20190612 OMIM 8825617 Znf142 zinc finger protein 142 gene DOID:9000239 Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements ISO RGD:1320100 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements PMID:25741868|PMID:30389958|PMID:31036918|PMID:35616059|PMID:35618198 8825617 Znf142 zinc finger protein 142 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8825617 Znf142 zinc finger protein 142 gene DOID:9008086 Developmental Disabilities ISO RGD:1320100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8825644 Slc9a9 solute carrier family 9 member A9 gene DOID:0060041 autism spectrum disorder ISO RGD:1314948 D RGD:9068941 20220825 MouseDO 8825644 Slc9a9 solute carrier family 9 member A9 gene DOID:12849 autistic disorder ISO RGD:1314947 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 16 | ClinVar Annotator: match by term: SLC9A9-related condition PMID:18621663|PMID:25741868|PMID:30927234 8825644 Slc9a9 solute carrier family 9 member A9 gene DOID:12849 autistic disorder susceptibility ISO RGD:1314947 D RGD:7240710 20190502 OMIM 8825644 Slc9a9 solute carrier family 9 member A9 gene DOID:630 genetic disease ISO RGD:1314947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825644 Slc9a9 solute carrier family 9 member A9 gene DOID:9256 colorectal cancer ISO RGD:1314947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8825671 Aqp5 aquaporin 5 gene DOID:0111707 Bothnian type palmoplantar keratoderma ISO RGD:70371 D RGD:7240710 20180130 OMIM 8825671 Aqp5 aquaporin 5 gene DOID:0111707 Bothnian type palmoplantar keratoderma ISO RGD:70371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma, Bothnian type PMID:23830519|PMID:25741868|PMID:27255181|PMID:28492532|PMID:34298581|PMID:7531539 8825671 Aqp5 aquaporin 5 gene DOID:10140 dry eye syndrome ISO RGD:10184 D RGD:9068941 20220825 MouseDO 8825671 Aqp5 aquaporin 5 gene DOID:11155 hypohidrosis ISO RGD:10184 D RGD:9068941 20200609 RGD PMID:11773623|REF_RGD_ID:70240 8825671 Aqp5 aquaporin 5 gene DOID:2316 brain ischemia ISO RGD:2144 D RGD:9068941 20200609 RGD PMID:19616516|REF_RGD_ID:5490152 8825671 Aqp5 aquaporin 5 gene DOID:630 genetic disease ISO RGD:70371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8825671 Aqp5 aquaporin 5 gene DOID:9004610 Acute Lung Injury ISO RGD:2144 D RGD:9068941 20200609 RGD associated with Disseminated Intravascular Coagulation;mRNA,protein:decreased expression:lung: PMID:24806323|REF_RGD_ID:11553933 8825671 Aqp5 aquaporin 5 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:70371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17245593|PMID:17270560 8825687 Cldn24 claudin 24 gene DOID:630 genetic disease ISO RGD:3378218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825690 Sgsm2 small G protein signaling modulator 2 gene DOID:10283 prostate cancer ISO RGD:1315867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8825690 Sgsm2 small G protein signaling modulator 2 gene DOID:630 genetic disease ISO RGD:1315867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825690 Sgsm2 small G protein signaling modulator 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8825728 Taldo1 transaldolase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8825728 Taldo1 transaldolase 1 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:733188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8825728 Taldo1 transaldolase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:733188 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8825728 Taldo1 transaldolase 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8825728 Taldo1 transaldolase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8825728 Taldo1 transaldolase 1 gene DOID:14330 Parkinson's disease ISO RGD:733188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23233872 8825728 Taldo1 transaldolase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8825728 Taldo1 transaldolase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:733188 D RGD:9068941 20200609 RGD Transaldolase deficiency, OMIM:606003 PMID:11283793|REF_RGD_ID:1599293 8825728 Taldo1 transaldolase 1 gene DOID:630 genetic disease ISO RGD:733188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8825728 Taldo1 transaldolase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19436114 8825728 Taldo1 transaldolase 1 gene DOID:83 cataract ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 8825728 Taldo1 transaldolase 1 gene DOID:9000356 Transaldolase Deficiency ISO RGD:733188 D RGD:7240710 20180130 OMIM 8825728 Taldo1 transaldolase 1 gene DOID:9000356 Transaldolase Deficiency ISO RGD:733188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EYAID SYNDROME PMID:10869557|PMID:11283793|PMID:15877206|PMID:18331807|PMID:23315216|PMID:24033266|PMID:24497183|PMID:25326635|PMID:25388407|PMID:25741868|PMID:26238251|PMID:28492532|PMID:28776642|PMID:29292491|PMID:29923087|PMID:31769880 8825728 Taldo1 transaldolase 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8825728 Taldo1 transaldolase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19436114 8825740 F10 coagulation factor X gene DOID:0060903 thrombosis ISO RGD:1342967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1279834 8825740 F10 coagulation factor X gene DOID:1247 blood coagulation disease ISO RGD:1342967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:62897 8825740 F10 coagulation factor X gene DOID:1588 thrombocytopenia ISO RGD:1342967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 8825740 F10 coagulation factor X gene DOID:1612 breast cancer ISO RGD:1342967 D RGD:9068941 20200609 RGD DNA:SNP: :rs3093261 (human) PMID:25407022|REF_RGD_ID:10449101 8825740 F10 coagulation factor X gene DOID:2213 hemorrhagic disease ISO RGD:1342967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25582404|PMID:25741868|PMID:26879396|PMID:31064749|PMID:7669671 8825740 F10 coagulation factor X gene DOID:2215 factor VII deficiency ISO RGD:1342967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor VII deficiency PMID:10984565|PMID:12181036|PMID:25741868 8825740 F10 coagulation factor X gene DOID:2222 factor X deficiency ISO RGD:1342967 D RGD:7240710 20180130 OMIM 8825740 F10 coagulation factor X gene DOID:2222 factor X deficiency ISO RGD:1342967 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: F10 DEFICIENCY | ClinVar Annotator: match by term: Factor X deficiency | ClinVar Annotator: match by term: STUART-PROWER FACTOR DEFICIENCY PMID:10468877|PMID:10746568|PMID:10984565|PMID:12028042|PMID:12181036|PMID:16919077|PMID:18403394|PMID:1939653|PMID:1973167|PMID:1985698|PMID:20331754|PMID:21854511|PMID:25582404|PMID:25741868|PMID:26879396|PMID:2790181|PMID:28492532|PMID:29590070|PMID:30507709|PMID:31064749|PMID:31662920|PMID:3408671|PMID:34355501|PMID:7669671|PMID:7860069|PMID:8449937|PMID:8845463|PMID:8910490|PMID:9198147 8825740 F10 coagulation factor X gene DOID:5844 myocardial infarction ISO RGD:1342967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to PMID:10984565|PMID:12181036|PMID:25741868 8825740 F10 coagulation factor X gene DOID:630 genetic disease ISO RGD:1342967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825740 F10 coagulation factor X gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1342967 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:22624582|REF_RGD_ID:11041730 8825740 F10 coagulation factor X gene DOID:9002488 Peritoneal Fibrosis ISO RGD:61850 D RGD:9068941 20200609 RGD PMID:19458308|REF_RGD_ID:7394780 8825740 F10 coagulation factor X gene DOID:9008217 Hemorrhage ISO RGD:1342967 D RGD:9068941 20200609 RGD PMID:8073392|REF_RGD_ID:11041766 8825740 F10 coagulation factor X gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:61850 D RGD:9068941 20200609 RGD PMID:16046705|REF_RGD_ID:1601105 8825752 Ugp2 UDP-glucose pyrophosphorylase 2 gene DOID:0112218 developmental and epileptic encephalopathy 83 ISO RGD:1320978 D RGD:7240710 20200226 OMIM 8825752 Ugp2 UDP-glucose pyrophosphorylase 2 gene DOID:0112218 developmental and epileptic encephalopathy 83 ISO RGD:1320978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83 PMID:25741868|PMID:28492532|PMID:31820119 8825752 Ugp2 UDP-glucose pyrophosphorylase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8825752 Ugp2 UDP-glucose pyrophosphorylase 2 gene DOID:630 genetic disease ISO RGD:1320978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825774 Tbrg1 transforming growth factor beta regulator 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8825774 Tbrg1 transforming growth factor beta regulator 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8825774 Tbrg1 transforming growth factor beta regulator 1 gene DOID:1059 intellectual disability ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8825774 Tbrg1 transforming growth factor beta regulator 1 gene DOID:5419 schizophrenia ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8825774 Tbrg1 transforming growth factor beta regulator 1 gene DOID:630 genetic disease ISO RGD:1312969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825774 Tbrg1 transforming growth factor beta regulator 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8825774 Tbrg1 transforming growth factor beta regulator 1 gene DOID:9007661 Dwarfism ISO RGD:1312969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8825794 Lgi4 leucine rich repeat LGI family member 4 gene DOID:0080978 arthrogryposis multiplex congenita-1 ISO RGD:1344124 D RGD:7240710 20190315 OMIM 8825794 Lgi4 leucine rich repeat LGI family member 4 gene DOID:0080978 arthrogryposis multiplex congenita-1 ISO RGD:1344124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | ClinVar Annotator: match by term: LGI4-related condition PMID:25741868|PMID:25954003|PMID:27618451|PMID:28318499|PMID:28490743|PMID:28492532|PMID:32860008 8825794 Lgi4 leucine rich repeat LGI family member 4 gene DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 ISO RGD:1344124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type PMID:25741868 8825794 Lgi4 leucine rich repeat LGI family member 4 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1344124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8825794 Lgi4 leucine rich repeat LGI family member 4 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1344124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8825794 Lgi4 leucine rich repeat LGI family member 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8825794 Lgi4 leucine rich repeat LGI family member 4 gene DOID:1825 childhood absence epilepsy ISO RGD:1344124 D RGD:9068941 20200609 RGD DNA:point mutation: :c.1914G>A (human) PMID:14505228|REF_RGD_ID:1302591 8825794 Lgi4 leucine rich repeat LGI family member 4 gene DOID:543 dystonia ISO RGD:1344124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8825794 Lgi4 leucine rich repeat LGI family member 4 gene DOID:630 genetic disease ISO RGD:1344124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28318499|PMID:28490743|PMID:28492532 8825814 Egr3 early growth response 3 gene DOID:0080600 COVID-19 ISO RGD:736598 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8825814 Egr3 early growth response 3 gene DOID:630 genetic disease ISO RGD:736598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825814 Egr3 early growth response 3 gene DOID:9004866 Ataxia ISO RGD:736598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16091474 8825814 Egr3 early growth response 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:736598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733822 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:0081210 autosomal recessive intellectual developmental disorder 46 ISO RGD:733822 D RGD:7240710 20180130 OMIM 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:0081210 autosomal recessive intellectual developmental disorder 46 ISO RGD:733822 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 46 PMID:21937992|PMID:25125150|PMID:25741868|PMID:27620904|PMID:27870114|PMID:28492532 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:733822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16020517 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:1059 intellectual disability ISO RGD:733822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:11198 DiGeorge syndrome ISO RGD:736720 D RGD:9068941 20220825 MouseDO OMIM:188400 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:736720 D RGD:9068941 20220825 MouseDO OMIM:267450 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:736720 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:733822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28211985|PMID:28492532|PMID:9536098 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733822 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25125150|PMID:25741868|PMID:27620904|PMID:27870114|PMID:28492532 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:9008296 Eye Abnormalities ISO RGD:733822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16020517 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16020517 8825830 Ndst1 N-deacetylase and N-sulfotransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 PMID:24403048|PMID:25741868 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111040 glycogen storage disease IXD ISO RGD:733215 D RGD:7240710 20180130 OMIM 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111040 glycogen storage disease IXD ISO RGD:733215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GSD IXd | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition PMID:12825073|PMID:15637709|PMID:16199547|PMID:17576681|PMID:18401027|PMID:22238410|PMID:2252364|PMID:25640679|PMID:25741868|PMID:26242992|PMID:28492532|PMID:29667327|PMID:32528171|PMID:7874115|PMID:8145916|PMID:9536098|PMID:9731190 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:733215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992|PMID:28492532 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:12849 autistic disorder ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:1459 hypothyroidism ISO RGD:621522 D RGD:9068941 20200609 RGD PMID:2774570|REF_RGD_ID:70269 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:2747 glycogen storage disease ISO RGD:733215 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:12825073|REF_RGD_ID:1599893 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:574 peripheral nervous system disease ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:630 genetic disease ISO RGD:733215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:8445 intestinal volvulus ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:870 neuropathy ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621522 D RGD:9068941 20200609 RGD PMID:11692172|REF_RGD_ID:1599897 8825850 Phka1 phosphorylase kinase regulatory subunit alpha 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:733215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8825900 Gtf2i general transcription factor IIi gene DOID:0060041 autism spectrum disorder ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8825900 Gtf2i general transcription factor IIi gene DOID:0060224 atrial fibrillation ISO RGD:1347498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8825900 Gtf2i general transcription factor IIi gene DOID:12849 autistic disorder ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8825900 Gtf2i general transcription factor IIi gene DOID:12894 Sjogren's syndrome ISO RGD:1347498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097066 8825900 Gtf2i general transcription factor IIi gene DOID:1928 Williams-Beuren syndrome ISO RGD:1347498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8825900 Gtf2i general transcription factor IIi gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8825900 Gtf2i general transcription factor IIi gene DOID:5419 schizophrenia ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8825900 Gtf2i general transcription factor IIi gene DOID:630 genetic disease ISO RGD:1347498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825900 Gtf2i general transcription factor IIi gene DOID:8445 intestinal volvulus ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8825900 Gtf2i general transcription factor IIi gene DOID:9000048 Thymic Epithelial Tumor ISO RGD:1347498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 8825900 Gtf2i general transcription factor IIi gene DOID:9002775 Cognitive Dysfunction ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:32349160 8825900 Gtf2i general transcription factor IIi gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8825900 Gtf2i general transcription factor IIi gene DOID:9008419 Volvulus Of Midgut ISO RGD:1347498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8825900 Gtf2i general transcription factor IIi gene DOID:9119 acute myeloid leukemia ISO RGD:1347498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 8825954 Rab7b RAB7B, member RAS oncogene family gene DOID:11476 osteoporosis ISO RGD:1346465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8825954 Rab7b RAB7B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1346465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8825954 Rab7b RAB7B, member RAS oncogene family gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1346465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8825967 Slc35f6 solute carrier family 35 member F6 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8825967 Slc35f6 solute carrier family 35 member F6 gene DOID:630 genetic disease ISO RGD:1319452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825977 Clec4d C-type lectin domain family 4 member D gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8825977 Clec4d C-type lectin domain family 4 member D gene DOID:0060758 immunodeficiency with hyper-IgM type 2 ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:16964591|PMID:28492532 8825977 Clec4d C-type lectin domain family 4 member D gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8825977 Clec4d C-type lectin domain family 4 member D gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8825977 Clec4d C-type lectin domain family 4 member D gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8825977 Clec4d C-type lectin domain family 4 member D gene DOID:0111621 Temtamy syndrome ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8825977 Clec4d C-type lectin domain family 4 member D gene DOID:630 genetic disease ISO RGD:1347298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8825977 Clec4d C-type lectin domain family 4 member D gene DOID:850 lung disease ISO RGD:1347298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 8825977 Clec4d C-type lectin domain family 4 member D gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:0050817 Stargardt disease ISO RGD:1313773 D RGD:9068941 20220825 MouseDO OMIM:248200 | OMIM:600110 | OMIM:603786 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:0050952 spastic ataxia ISO RGD:1313772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:0050981 spinocerebellar ataxia type 34 ISO RGD:1313772 D RGD:7240710 20180425 OMIM 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:0050981 spinocerebellar ataxia type 34 ISO RGD:1313772 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 PMID:24566826|PMID:25741868|PMID:26010696|PMID:28492532|PMID:28559085|PMID:30065956|PMID:31105016|PMID:31692161|PMID:31750392|PMID:32211516|PMID:34234304|PMID:34623043|PMID:5048218 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:2566 corneal dystrophy ISO RGD:1313772 D RGD:9068941 20200609 RGD PMID:11726641|REF_RGD_ID:1598895 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:630 genetic disease ISO RGD:1313772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:8501 fundus dystrophy ISO RGD:1313772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11138005|PMID:15028284|PMID:23509295|PMID:24833735|PMID:28492532 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:9000290 Stargardt Disease 3 ISO RGD:1313772 D RGD:7240710 20180130 OMIM 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:9000290 Stargardt Disease 3 ISO RGD:1313772 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Stargardt disease 3 PMID:11138005|PMID:15028284|PMID:15557430|PMID:22948568|PMID:23509295|PMID:24566826|PMID:24833735|PMID:25326635|PMID:25741868|PMID:27116512|PMID:28492532|PMID:32211516|PMID:33546218|PMID:34073554|PMID:5048218 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:9000515 Ichthyosis, Spastic Quadriplegia, and Mental Retardation ISO RGD:1313772 D RGD:7240710 20180130 OMIM 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:9000515 Ichthyosis, Spastic Quadriplegia, and Mental Retardation ISO RGD:1313772 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Ichthyosis, spastic quadriplegia, and mental retardation PMID:11138005|PMID:22100072|PMID:23509295|PMID:24566826|PMID:24833735|PMID:25326635|PMID:25741868|PMID:28492532|PMID:32211516|PMID:5048218 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:9000565 Stargardt Disease 4 ISO RGD:1313772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt Disease, Dominant 8825996 Elovl4 ELOVL fatty acid elongase 4 gene DOID:9269 maple syrup urine disease ISO RGD:1313772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 8826011 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8826011 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:12849 autistic disorder ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8826011 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:1928 Williams-Beuren syndrome ISO RGD:733836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8826011 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8826011 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:5419 schizophrenia ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8826011 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:733836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826011 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:8445 intestinal volvulus ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8826011 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:32349160 8826011 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8826011 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:9007491 Childhood Schizophrenia ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8826011 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:733836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8826011 Gtf2ird1 GTF2I repeat domain containing 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20007321 8826063 R3hdml R3H domain containing like gene DOID:2234 focal epilepsy ISO RGD:1313241 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8826063 R3hdml R3H domain containing like gene DOID:630 genetic disease ISO RGD:1313241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826063 R3hdml R3H domain containing like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8826072 Ilf2 interleukin enhancer binding factor 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8826072 Ilf2 interleukin enhancer binding factor 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8826072 Ilf2 interleukin enhancer binding factor 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8826072 Ilf2 interleukin enhancer binding factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8826072 Ilf2 interleukin enhancer binding factor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8826072 Ilf2 interleukin enhancer binding factor 2 gene DOID:5812 MHC class II deficiency ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8826072 Ilf2 interleukin enhancer binding factor 2 gene DOID:630 genetic disease ISO RGD:1313940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826072 Ilf2 interleukin enhancer binding factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313940 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8826072 Ilf2 interleukin enhancer binding factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8826093 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1312242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 8826093 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1312242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8826093 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:12849 autistic disorder ISO RGD:1312242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8826093 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:3426 vestibular disease ISO RGD:1621289 D RGD:9068941 20220825 MouseDO 8826093 Kcna10 potassium voltage-gated channel subfamily A member 10 gene DOID:630 genetic disease ISO RGD:1312242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826103 Il20ra interleukin 20 receptor subunit alpha gene DOID:0111955 immunodeficiency 27A ISO RGD:1316471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 8826103 Il20ra interleukin 20 receptor subunit alpha gene DOID:14115 toxic shock syndrome ISO RGD:1618138 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple PMID:18246602|REF_RGD_ID:5037232 8826103 Il20ra interleukin 20 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1316471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826103 Il20ra interleukin 20 receptor subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:1316471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8826103 Il20ra interleukin 20 receptor subunit alpha gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1316471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 8826103 Il20ra interleukin 20 receptor subunit alpha gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1316471 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8826122 Misp mitotic spindle positioning gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8826122 Misp mitotic spindle positioning gene DOID:5339 cyclic hematopoiesis ISO RGD:1317766 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8826122 Misp mitotic spindle positioning gene DOID:630 genetic disease ISO RGD:1317766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826132 Cep72 centrosomal protein 72 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1603993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 8826132 Cep72 centrosomal protein 72 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1603993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 8826132 Cep72 centrosomal protein 72 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1603993 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8826132 Cep72 centrosomal protein 72 gene DOID:630 genetic disease ISO RGD:1603993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826181 Acp2 acid phosphatase 2, lysosomal gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:10071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8826181 Acp2 acid phosphatase 2, lysosomal gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:10071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 8826181 Acp2 acid phosphatase 2, lysosomal gene DOID:1059 intellectual disability ISO RGD:10071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8826181 Acp2 acid phosphatase 2, lysosomal gene DOID:11832 visual epilepsy ISO RGD:10070 D RGD:9068941 20200609 RGD PMID:9228031|REF_RGD_ID:1300245 8826181 Acp2 acid phosphatase 2, lysosomal gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10071 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8826181 Acp2 acid phosphatase 2, lysosomal gene DOID:630 genetic disease ISO RGD:10071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826181 Acp2 acid phosphatase 2, lysosomal gene DOID:9006216 Acid Phosphatase Deficiency ISO RGD:10071 D RGD:7240710 20180130 OMIM 8826205 Stard3nl STARD3 N-terminal like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8826205 Stard3nl STARD3 N-terminal like gene DOID:630 genetic disease ISO RGD:1318520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826230 Cfl1 cofilin 1 gene DOID:0050562 West syndrome ISO RGD:69285 D RGD:9068941 20200609 RGD protein:decreased expression:brain (rat) PMID:24994451|REF_RGD_ID:11570411 8826230 Cfl1 cofilin 1 gene DOID:0050731 vitamin B12 deficiency ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:25982389|REF_RGD_ID:11352764 8826230 Cfl1 cofilin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8826230 Cfl1 cofilin 1 gene DOID:0080016 spina bifida ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17352815 8826230 Cfl1 cofilin 1 gene DOID:1059 intellectual disability ISO RGD:732970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8826230 Cfl1 cofilin 1 gene DOID:11457 brain compression treatment ISO RGD:732970 D RGD:9068941 20200609 RGD PMID:25708984|REF_RGD_ID:12738361 8826230 Cfl1 cofilin 1 gene DOID:1184 nephrotic syndrome treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:24737737|REF_RGD_ID:11570418 8826230 Cfl1 cofilin 1 gene DOID:1824 status epilepticus treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:27642592|REF_RGD_ID:11568691 8826230 Cfl1 cofilin 1 gene DOID:1875 impotence ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased phosphorylation:corpus cavernosum penis (rat) PMID:25923835|REF_RGD_ID:11568706 8826230 Cfl1 cofilin 1 gene DOID:1875 impotence treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:25444982|REF_RGD_ID:11570410 8826230 Cfl1 cofilin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8826230 Cfl1 cofilin 1 gene DOID:2746 glycogen storage disease V ISO RGD:732970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8826230 Cfl1 cofilin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8826230 Cfl1 cofilin 1 gene DOID:4948 gallbladder carcinoma severity ISO RGD:732970 D RGD:9068941 20200609 RGD Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) PMID:23320827|REF_RGD_ID:11571623 8826230 Cfl1 cofilin 1 gene DOID:5199 ureteral obstruction ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased expression:inner medulla of kidney (rat) PMID:24761003|REF_RGD_ID:11570413 8826230 Cfl1 cofilin 1 gene DOID:5844 myocardial infarction treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:24292258|REF_RGD_ID:11570534 8826230 Cfl1 cofilin 1 gene DOID:630 genetic disease ISO RGD:732970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826230 Cfl1 cofilin 1 gene DOID:767 muscular atrophy ISO RGD:69285 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:gastrocnemius (rat) PMID:24711688|REF_RGD_ID:11570530 8826230 Cfl1 cofilin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8826230 Cfl1 cofilin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69285 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:renal glomerulus (rat) PMID:24726496|REF_RGD_ID:11570419 8826230 Cfl1 cofilin 1 gene DOID:9002211 Hyperalgesia ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased phosphorylation:dorsal root ganglion (rat) PMID:24962708|REF_RGD_ID:11570412 8826230 Cfl1 cofilin 1 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:69285 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney (rat) PMID:26450610|REF_RGD_ID:11520804 8826230 Cfl1 cofilin 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732970 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8826230 Cfl1 cofilin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 8826230 Cfl1 cofilin 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69285 D RGD:9068941 20200609 RGD protein:altered expression:striatum (rat) PMID:27018876|REF_RGD_ID:11568696 8826230 Cfl1 cofilin 1 gene DOID:9005968 Neuralgia treatment ISO RGD:69285 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:27216618|REF_RGD_ID:11568694 8826230 Cfl1 cofilin 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:69285 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:27576917|REF_RGD_ID:11568692 8826230 Cfl1 cofilin 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8826230 Cfl1 cofilin 1 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:69285 D RGD:9068941 20200609 RGD PMID:27443501|REF_RGD_ID:11568693 8826230 Cfl1 cofilin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8826238 Tmem225 transmembrane protein 225 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8826238 Tmem225 transmembrane protein 225 gene DOID:5419 schizophrenia ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8826238 Tmem225 transmembrane protein 225 gene DOID:630 genetic disease ISO RGD:1605235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826238 Tmem225 transmembrane protein 225 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8826238 Tmem225 transmembrane protein 225 gene DOID:9007661 Dwarfism ISO RGD:1605235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa PMID:10084325|PMID:10367729|PMID:10383749|PMID:10408773|PMID:10469344|PMID:1050445|PMID:10504458|PMID:10583163|PMID:10836608|PMID:10944088|PMID:11000732|PMID:11167698|PMID:11378329|PMID:11722462|PMID:11781296|PMID:11843659|PMID:11874498|PMID:12207583|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15509587|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16484981|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18030675|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19197535|PMID:19344236|PMID:19439919|PMID:19643583|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:20184583|PMID:20357813|PMID:20555349|PMID:20598510|PMID:20920254|PMID:21113014|PMID:21124339|PMID:21382783|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24210835|PMID:24213372|PMID:24252097|PMID:24279917|PMID:24317394|PMID:24599399|PMID:24947307|PMID:25155989|PMID:25284350|PMID:25525159|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26143532|PMID:26148662|PMID:26446410|PMID:26467025|PMID:26612796|PMID:26707537|PMID:26763448|PMID:26833212|PMID:26864810|PMID:27153395|PMID:27408687|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29130490|PMID:29229433|PMID:29334134|PMID:29473190|PMID:29500833|PMID:29512197|PMID:29531004|PMID:30280950|PMID:31001817|PMID:31634165|PMID:31670143|PMID:31786163|PMID:31930626|PMID:32484238|PMID:32860008|PMID:33274474|PMID:33502061|PMID:34230977|PMID:34435747|PMID:34826142|PMID:35979658|PMID:36287101|PMID:36430820|PMID:7577595|PMID:7695699|PMID:7833933|PMID:7883979|PMID:8037207|PMID:8088783|PMID:8218237|PMID:8345225|PMID:8513326|PMID:8592061|PMID:8618004|PMID:8644729|PMID:8644730|PMID:8755915|PMID:8900535|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Anonychia PMID:10408773|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16965329|PMID:16971478|PMID:19681861|PMID:20598510|PMID:22266148|PMID:24033266|PMID:25741868|PMID:26076072|PMID:26148662|PMID:28492532|PMID:35979658|PMID:8755915|PMID:9881948 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:0080086 nonsyndromic congenital nail disorder 8 ISO RGD:1322869 D RGD:7240710 20180130 OMIM 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:0080086 nonsyndromic congenital nail disorder 8 ISO RGD:1322869 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 8 | ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED PMID:10408773|PMID:10469344|PMID:10504458|PMID:10836608|PMID:11781296|PMID:11843659|PMID:12485454|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15888141|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17434045|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20357813|PMID:20598510|PMID:21471992|PMID:22058051|PMID:22266148|PMID:24032424|PMID:24033266|PMID:24210835|PMID:24947307|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:26763448|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29473190|PMID:30280950|PMID:32860008|PMID:35979658|PMID:7577595|PMID:7695699|PMID:7833933|PMID:8088783|PMID:8218237|PMID:8755915|PMID:9242516|PMID:9326325|PMID:9666834|PMID:9856844|PMID:9881948 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:7240710 20180130 OMIM 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant PMID:10084325|PMID:10232408|PMID:10233777|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10836608|PMID:11781296|PMID:11874498|PMID:11952672|PMID:12485454|PMID:12735646|PMID:12787275|PMID:12813757|PMID:14616374|PMID:15888141|PMID:16189623|PMID:16484981|PMID:16557343|PMID:1680286|PMID:16965329|PMID:16971478|PMID:17336503|PMID:17425959|PMID:17576681|PMID:18429782|PMID:19197535|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20357813|PMID:20598510|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22266148|PMID:23786535|PMID:24032424|PMID:24033266|PMID:24210835|PMID:24317394|PMID:24794830|PMID:24947307|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:26763448|PMID:26864810|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29473190|PMID:30280950|PMID:32860008|PMID:35979658|PMID:7577595|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8088783|PMID:8170945|PMID:8218237|PMID:8288900|PMID:8345225|PMID:8618004|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9856843|PMID:9856844|PMID:9881948|PMID:9892921 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:0080988 pretibial dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:7240710 20180130 OMIM 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:0080988 pretibial dystrophic epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa PMID:10408773|PMID:10504458|PMID:10583163|PMID:10836608|PMID:10944088|PMID:11378329|PMID:11781296|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15888141|PMID:16965329|PMID:16971478|PMID:17425959|PMID:18429782|PMID:19197535|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20357813|PMID:20598510|PMID:21471992|PMID:22058051|PMID:22266148|PMID:24032424|PMID:24033266|PMID:24210835|PMID:24213372|PMID:24794830|PMID:24947307|PMID:25284350|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:26763448|PMID:26864810|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29473190|PMID:30280950|PMID:31001817|PMID:32860008|PMID:35979658|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8088783|PMID:8218237|PMID:8541842|PMID:8755915|PMID:8900535|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9666834|PMID:9881948|PMID:9892921 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:0111345 transient bullous dermolysis of the newborn ISO RGD:1322869 D RGD:7240710 20180130 OMIM 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:0111345 transient bullous dermolysis of the newborn ISO RGD:1322869 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn PMID:10084325|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11781296|PMID:12207583|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16225626|PMID:16271705|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17434045|PMID:17501948|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20184583|PMID:20357813|PMID:20598510|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22209565|PMID:22266148|PMID:23786535|PMID:24032424|PMID:24033266|PMID:24210835|PMID:24317394|PMID:24533879|PMID:24599399|PMID:24947307|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:2653224|PMID:26763448|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29473190|PMID:30280950|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32860008|PMID:35979658|PMID:7695699|PMID:7833933|PMID:8088783|PMID:8218237|PMID:8755915|PMID:9242516|PMID:9326325|PMID:9406826|PMID:9666834|PMID:9740253|PMID:9856844|PMID:9881948 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails ISO RGD:1322869 D RGD:7240710 20180130 OMIM 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails ISO RGD:1322869 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE PMID:10408773|PMID:10504458|PMID:10836608|PMID:11710955|PMID:11781296|PMID:11843659|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15888141|PMID:16965329|PMID:16971478|PMID:17425959|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20357813|PMID:20598510|PMID:21471992|PMID:22058051|PMID:22266148|PMID:24032424|PMID:24033266|PMID:24210835|PMID:2425097|PMID:24947307|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:26763448|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29473190|PMID:29963685|PMID:30280950|PMID:32860008|PMID:35979658|PMID:5910871|PMID:7695699|PMID:7833933|PMID:8088783|PMID:8218237|PMID:8618021|PMID:8752681|PMID:8755915|PMID:9242516|PMID:9326325|PMID:9666834|PMID:9881948 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:10907 microcephaly ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:11720 distal myopathy ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:2187 amelogenesis imperfecta ISO RGD:1322869 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 PMID:16484981|PMID:25741868|PMID:28492532 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:2730 epidermolysis bullosa ISO RGD:1322869 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa PMID:16971478|PMID:25741868|PMID:28492532 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1322869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:28492532 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:1322869 D RGD:7240710 20180130 OMIM 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica ISO RGD:1322869 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease PMID:10084325|PMID:10383749|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10836608|PMID:10944088|PMID:10980546|PMID:11167698|PMID:11710955|PMID:11781296|PMID:11843659|PMID:11874498|PMID:12207583|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15509587|PMID:15550148|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17282977|PMID:17425959|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18030675|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19344236|PMID:19439919|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:19726672|PMID:19814614|PMID:20108398|PMID:20108428|PMID:20184583|PMID:20357813|PMID:20585476|PMID:20598510|PMID:20920254|PMID:21124339|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22070715|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24210835|PMID:2425097|PMID:24252097|PMID:24279917|PMID:24317394|PMID:24577406|PMID:24794830|PMID:24831336|PMID:24947307|PMID:25155989|PMID:25525159|PMID:25556825|PMID:25741868|PMID:25819062|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:26612796|PMID:26763448|PMID:26864810|PMID:27153395|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:28853495|PMID:29130490|PMID:29229433|PMID:29242947|PMID:29334134|PMID:29427316|PMID:29473190|PMID:29500833|PMID:29963685|PMID:30280950|PMID:31001817|PMID:31090061|PMID:31930626|PMID:32484238|PMID:32860008|PMID:33274474|PMID:34046686|PMID:34230977|PMID:34435747|PMID:34826142|PMID:35432467|PMID:35979658|PMID:36430820|PMID:5910871|PMID:7577595|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8037207|PMID:8088783|PMID:8218237|PMID:8345225|PMID:8592061|PMID:8618004|PMID:8618018|PMID:8618021|PMID:8644729|PMID:8644730|PMID:8752681|PMID:8755915|PMID:8900535|PMID:9042157|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948|PMID:9892921 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:4959 epidermolysis bullosa dystrophica susceptibility ISO RGD:1322869 D RGD:9068941 20200609 RGD DNA:insertion-deletion PMID:8275094|REF_RGD_ID:1600946 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1322869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:20920254|PMID:21448560|PMID:22058051|PMID:23786535|PMID:23947675|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:35979658|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681|PMID:9326325 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:687 hepatoblastoma ISO RGD:1322869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:9000918 Disease Progression ISO RGD:1322869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:9001276 Failure to Thrive ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1322869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1322869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:9003984 Hyperpigmentation ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hyperpigmentation PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:9004739 Cicatrix ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Scarring PMID:12787275|PMID:22266148|PMID:25741868|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:9005879 Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant ISO RGD:1322869 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant PMID:10408773|PMID:10504458|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16271705|PMID:16484981|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18565177|PMID:19344236|PMID:19681861|PMID:20598510|PMID:22058051|PMID:22266148|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31001817|PMID:31930626|PMID:35979658|PMID:7695699|PMID:8218237|PMID:8755915|PMID:9536098|PMID:9804332 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:9006711 Epidermolysis Bullosa Pruriginosa ISO RGD:1322869 D RGD:7240710 20180130 OMIM 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:9006711 Epidermolysis Bullosa Pruriginosa ISO RGD:1322869 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive PMID:10367729|PMID:10383749|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11781296|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15888141|PMID:16199547|PMID:16271705|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17434045|PMID:17576681|PMID:18429782|PMID:19344236|PMID:19665875|PMID:19681861|PMID:20357813|PMID:20598510|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22209565|PMID:22266148|PMID:24032424|PMID:24033266|PMID:24210835|PMID:24947307|PMID:25741868|PMID:26076072|PMID:26102279|PMID:26148662|PMID:26467025|PMID:26763448|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29473190|PMID:30280950|PMID:32484238|PMID:32860008|PMID:35979658|PMID:36287101|PMID:7695699|PMID:7833933|PMID:8088783|PMID:8218237|PMID:8755915|PMID:9182828|PMID:9242516|PMID:9326325|PMID:9536098|PMID:9666834|PMID:9718359|PMID:9856844|PMID:9881948 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:9007661 Dwarfism ISO RGD:1322869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature PMID:12787275|PMID:16971478|PMID:22266148|PMID:25741868|PMID:26076072|PMID:26148662|PMID:28492532|PMID:28830826|PMID:32860008|PMID:35979658|PMID:8037207|PMID:9881948 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8826247 Col7a1 collagen type VII alpha 1 chain gene DOID:9008939 Breast Neoplasms ISO RGD:1322869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8826370 Mturn maturin, neural progenitor differentiation regulator homolog gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1603878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 8826370 Mturn maturin, neural progenitor differentiation regulator homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8826370 Mturn maturin, neural progenitor differentiation regulator homolog gene DOID:630 genetic disease ISO RGD:1603878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826377 Pgpep1l pyroglutamyl-peptidase I like gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:3052652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8826377 Pgpep1l pyroglutamyl-peptidase I like gene DOID:630 genetic disease ISO RGD:3052652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826392 Armt1 acidic residue methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1313144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826406 Fem1a fem-1 homolog A gene DOID:630 genetic disease ISO RGD:1353975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826414 Ptchd3 patched domain containing 3 gene DOID:630 genetic disease ISO RGD:1603484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826422 Efcab7 EF-hand calcium binding domain 7 gene DOID:1059 intellectual disability ISO RGD:1603602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8826422 Efcab7 EF-hand calcium binding domain 7 gene DOID:630 genetic disease ISO RGD:1603602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826422 Efcab7 EF-hand calcium binding domain 7 gene DOID:9003071 Postaxial Polydactyly ISO RGD:1603602 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly PMID:25741868 8826422 Efcab7 EF-hand calcium binding domain 7 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1603602 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 8826450 Exoc4 exocyst complex component 4 gene DOID:0050778 Meckel syndrome ISO RGD:1353036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065 8826450 Exoc4 exocyst complex component 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8826450 Exoc4 exocyst complex component 4 gene DOID:630 genetic disease ISO RGD:1353036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826481 Tas2r4 taste 2 receptor member 4 gene DOID:0080690 RASopathy ISO RGD:1342891 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8826481 Tas2r4 taste 2 receptor member 4 gene DOID:630 genetic disease ISO RGD:1342891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826481 Tas2r4 taste 2 receptor member 4 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1342891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 8826484 Zranb1 zinc finger RANBP2-type containing 1 gene DOID:630 genetic disease ISO RGD:1318817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826508 Pdlim1 PDZ and LIM domain 1 gene DOID:630 genetic disease ISO RGD:68448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826518 Abhd4 abhydrolase domain containing 4, N-acyl phospholipase B gene DOID:630 genetic disease ISO RGD:1323534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826518 Abhd4 abhydrolase domain containing 4, N-acyl phospholipase B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323534 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8826539 Acsf3 acyl-CoA synthetase family member 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 8826539 Acsf3 acyl-CoA synthetase family member 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604214 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8826539 Acsf3 acyl-CoA synthetase family member 3 gene DOID:0111263 combined malonic and methylmalonic acidemia ISO RGD:1604214 D RGD:7240710 20180130 OMIM 8826539 Acsf3 acyl-CoA synthetase family member 3 gene DOID:0111263 combined malonic and methylmalonic acidemia ISO RGD:1604214 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia PMID:16199547|PMID:17576681|PMID:21785126|PMID:21841779|PMID:22421630|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26827111|PMID:26915364|PMID:28492532|PMID:29144512|PMID:29555771|PMID:29858964|PMID:30041674|PMID:30487145|PMID:30609409|PMID:30740739|PMID:31376476|PMID:31462756|PMID:31980526|PMID:32327331|PMID:32944792|PMID:33223529|PMID:33625768|PMID:33879512|PMID:34426522|PMID:34440436|PMID:34547244|PMID:34900860|PMID:9030548|PMID:9536098 8826539 Acsf3 acyl-CoA synthetase family member 3 gene DOID:14749 methylmalonic acidemia ISO RGD:1604214 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:21785126|PMID:21841779|PMID:22421630|PMID:25741868|PMID:26827111|PMID:26915364|PMID:28492532|PMID:29144512|PMID:29858964|PMID:30041674|PMID:30740739|PMID:31376476|PMID:31980526|PMID:32944792|PMID:33879512|PMID:34426522|PMID:34440436|PMID:34900860|PMID:9030548 8826539 Acsf3 acyl-CoA synthetase family member 3 gene DOID:14780 KBG syndrome ISO RGD:1604214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 8826539 Acsf3 acyl-CoA synthetase family member 3 gene DOID:630 genetic disease ISO RGD:1604214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21841779|PMID:25741868|PMID:26827111|PMID:28492532 8826539 Acsf3 acyl-CoA synthetase family member 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8826539 Acsf3 acyl-CoA synthetase family member 3 gene DOID:9005126 Malonic Aciduria ISO RGD:1604214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21841779 8826539 Acsf3 acyl-CoA synthetase family member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1604214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8826553 Eif4enif1 eukaryotic translation initiation factor 4E nuclear import factor 1 gene DOID:630 genetic disease ISO RGD:1320332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:0080855 Parkinsonism treatment ISO RGD:70083 D RGD:9068941 20200609 RGD PMID:25844489|REF_RGD_ID:13524517 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:10763 hypertension treatment ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:21825230|REF_RGD_ID:7207400 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:11206 opioid abuse ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:22056472|REF_RGD_ID:13524518 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:12528 lesion of sciatic nerve ISO RGD:3567 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:14550772|REF_RGD_ID:13524539 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:1540 parathyroid carcinoma ISO RGD:70082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:1824 status epilepticus ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:19126440|REF_RGD_ID:13524534 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:1826 epilepsy treatment ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:28320185|REF_RGD_ID:13524511 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:289 endometriosis ISO RGD:70082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:365 bladder disease treatment ISO RGD:3567 D RGD:9068941 20200609 RGD associated with hypertension PMID:19689474|REF_RGD_ID:9684972 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:630 genetic disease ISO RGD:70082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:9002211 Hyperalgesia treatment ISO RGD:3567 D RGD:9068941 20200609 RGD associated with lesion of sciatic nerve PMID:27641322|REF_RGD_ID:13524513 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:9007090 Experimental Seizures ISO RGD:3567 D RGD:9068941 20200609 RGD PMID:12358788|REF_RGD_ID:13524540 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:3567 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:24969021|REF_RGD_ID:13524515 8826588 Rgs4 regulator of G protein signaling 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:70082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8826609 Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8826609 Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone gene DOID:1059 intellectual disability ISO RGD:1316810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8826609 Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone gene DOID:630 genetic disease ISO RGD:1316810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826626 LOC102010789 histone H1.0 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8826626 LOC102010789 histone H1.0 gene DOID:0080600 COVID-19 ISO RGD:736127 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8826626 LOC102010789 histone H1.0 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:736127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8826626 LOC102010789 histone H1.0 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:736127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8826626 LOC102010789 histone H1.0 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8826626 LOC102010789 histone H1.0 gene DOID:630 genetic disease ISO RGD:736127 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826626 LOC102010789 histone H1.0 gene DOID:9119 acute myeloid leukemia ISO RGD:736127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8826682 Zic4 Zic family member 4 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1316410 D RGD:9068941 20220825 MouseDO OMIM:220200 8826682 Zic4 Zic family member 4 gene DOID:630 genetic disease ISO RGD:1316409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8826682 Zic4 Zic family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1316409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8826691 Aspdh aspartate dehydrogenase domain containing gene DOID:630 genetic disease ISO RGD:1605752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1312517 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:15159313|PMID:15886521|PMID:16199547|PMID:16550608|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:27607234|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:31692161|PMID:32008151|PMID:32659497|PMID:32756499|PMID:34117267|PMID:35477182|PMID:8797827|PMID:9485007|PMID:9579555|PMID:9580660 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0050952 spastic ataxia ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:23623389|PMID:25741868|PMID:28492532|PMID:9580660 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISO RGD:1312517 D RGD:7240710 20180130 OMIM 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISO RGD:1312517 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: XFE progeroid syndrome PMID:15886521|PMID:17183314|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:31692161|PMID:32008151|PMID:32659497|PMID:32756499|PMID:8797827|PMID:9579555 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:1312517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia PMID:23623386|PMID:25741868 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1312517 D RGD:7240710 20180130 OMIM 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1312517 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F | ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/Cockayne syndrome PMID:15159313|PMID:15886521|PMID:16199547|PMID:16550608|PMID:17183314|PMID:17576681|PMID:18767034|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23407396|PMID:23623386|PMID:23623389|PMID:24004570|PMID:24027083|PMID:24033266|PMID:24412486|PMID:24465539|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28878254|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:30658521|PMID:31692161|PMID:32008151|PMID:32034146|PMID:32487094|PMID:32659497|PMID:32756499|PMID:32868804|PMID:34117267|PMID:35477182|PMID:8797827|PMID:9485007|PMID:9536098|PMID:9579555|PMID:9580660 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0111093 Fanconi anemia complementation group Q ISO RGD:1312517 D RGD:7240710 20180130 OMIM 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:0111093 Fanconi anemia complementation group Q ISO RGD:1312517 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group Q PMID:15886521|PMID:16550608|PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623386|PMID:23623389|PMID:24033266|PMID:24465539|PMID:24728327|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:27356891|PMID:27528516|PMID:28292785|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29325523|PMID:29403087|PMID:29892709|PMID:30165384|PMID:30658521|PMID:31692161|PMID:32008151|PMID:32487094|PMID:32659497|PMID:32756499|PMID:34117267|PMID:8797827|PMID:9579555 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:10534 stomach cancer exacerbates ISO RGD:1312517 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:10907 microcephaly ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:28767289 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:11054 urinary bladder cancer ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062074 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:14184 polyneuropathy due to drug treatment ISO RGD:1312517 D RGD:9068941 20221006 RGD associated with colorectal cancer;DNA:missense mutations:CDS:p.P379S, p.E875G (rs1799802, rs1800124) (human) PMID:35135151|REF_RGD_ID:155260345 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:1793 pancreatic cancer ISO RGD:1312517 D RGD:9068941 20200609 RGD pancreatic adenocarcinoma;DNA:SNP: :rs1800067(human) PMID:18544627|REF_RGD_ID:2317223 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:1312517 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:2962 Cockayne syndrome ISO RGD:1312517 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Progeroid nanism PMID:20221251|PMID:21612988|PMID:23623389|PMID:25741868|PMID:26074087|PMID:26453996|PMID:26884178|PMID:28492532|PMID:29325523|PMID:29892709|PMID:30165384 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:3459 breast carcinoma ISO RGD:1312517 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:3911 progeria ISO RGD:1312517 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:4905 pancreatic carcinoma ISO RGD:1312517 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:20221251|PMID:21228398|PMID:21612988|PMID:23623389|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26074087|PMID:27356891|PMID:27528516|PMID:28431612|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:29403087|PMID:29892709|PMID:31692161|PMID:8797827|PMID:9579555 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:574 peripheral nervous system disease ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:630 genetic disease ISO RGD:1312517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15886521|PMID:24465539|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29105242|PMID:31692161|PMID:32008151|PMID:32487094|PMID:32659497|PMID:32756499|PMID:34117267 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20372803 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9002801 Recurrence ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062074 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9004207 Testicular Neoplasms ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1560340 D RGD:9068941 20200609 RGD PMID:22228707|REF_RGD_ID:7296926 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216194|PMID:24036326 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18767034|PMID:23407396|PMID:24004570|PMID:24465539|PMID:24728327|PMID:25741868|PMID:28492532 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1312517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12569548 8826709 Ercc4 ERCC excision repair 4, endonuclease catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1312517 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 8826727 Serping1 serpin family G member 1 gene DOID:0060002 C1 inhibitor deficiency ISO RGD:1344082 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Deficiency of C1 esterase inhibitor PMID:25258140|PMID:25741868|PMID:28492532|PMID:29753808|PMID:30508583|PMID:32065705|PMID:8755917 8826727 Serping1 serpin family G member 1 gene DOID:0080162 lupus nephritis ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4014294 8826727 Serping1 serpin family G member 1 gene DOID:0080600 COVID-19 severity ISO RGD:1344082 D RGD:9068941 20200813 RGD DNA:SNP: : PMID:32747830|REF_RGD_ID:38500238 8826727 Serping1 serpin family G member 1 gene DOID:0080939 hereditary angioedema type I ISO RGD:1344082 D RGD:7240710 20180418 OMIM 8826727 Serping1 serpin family G member 1 gene DOID:0080939 hereditary angioedema type I ISO RGD:1344082 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I | ClinVar Annotator: match by term: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | ClinVar Annotator: match by term: Hereditary angioedema type 1 | ClinVar Annotator: match by term: Hereditary angioedema with C1Inh deficiency PMID:12402344|PMID:1339401|PMID:1363816|PMID:1451784|PMID:16813612|PMID:1684567|PMID:17137866|PMID:17576681|PMID:18586324|PMID:18758157|PMID:1885769|PMID:20804470|PMID:20864152|PMID:21832835|PMID:22129507|PMID:2296585|PMID:22994404|PMID:23437219|PMID:2365061|PMID:24033266|PMID:25258140|PMID:2563376|PMID:25741868|PMID:26812872|PMID:2723063|PMID:28194776|PMID:28359783|PMID:28492532|PMID:2890659|PMID:29343682|PMID:29753808|PMID:30398465|PMID:30508583|PMID:30556912|PMID:30847342|PMID:3178731|PMID:31959500|PMID:31982983|PMID:32065705|PMID:33034800|PMID:3587308|PMID:8396558|PMID:8755917|PMID:9536098 8826727 Serping1 serpin family G member 1 gene DOID:0080941 acquired angioedema ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:23406939|PMID:9734886 8826727 Serping1 serpin family G member 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:735225 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:10360224|REF_RGD_ID:8661651 8826727 Serping1 serpin family G member 1 gene DOID:1059 intellectual disability ISO RGD:1344082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8826727 Serping1 serpin family G member 1 gene DOID:14115 toxic shock syndrome treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:8172580|REF_RGD_ID:8661646 8826727 Serping1 serpin family G member 1 gene DOID:14735 hereditary angioedema ISO RGD:1344082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema 8826727 Serping1 serpin family G member 1 gene DOID:14735 hereditary angioedema treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:22800873|REF_RGD_ID:8661265 8826727 Serping1 serpin family G member 1 gene DOID:1558 angioedema ISO RGD:1344082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema 8826727 Serping1 serpin family G member 1 gene DOID:1558 angioedema susceptibility ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:12402344|REF_RGD_ID:1600545 8826727 Serping1 serpin family G member 1 gene DOID:3068 glioblastoma treatment ISO RGD:735225 D RGD:9068941 20200609 RGD PMID:28880870|REF_RGD_ID:13525003 8826727 Serping1 serpin family G member 1 gene DOID:3526 cerebral infarction treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD associated with Venous Thrombosis PMID:10446335|REF_RGD_ID:8661653 8826727 Serping1 serpin family G member 1 gene DOID:4448 macular degeneration ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:21852020|REF_RGD_ID:8661263 8826727 Serping1 serpin family G member 1 gene DOID:4448 macular degeneration ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human) PMID:20576771|REF_RGD_ID:8661638 8826727 Serping1 serpin family G member 1 gene DOID:4448 macular degeneration no_association ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human) PMID:21526158|REF_RGD_ID:8661639 8826727 Serping1 serpin family G member 1 gene DOID:4448 macular degeneration no_association ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.1029+312T>C (rs11603020) (human) PMID:20606025|REF_RGD_ID:8661640 8826727 Serping1 serpin family G member 1 gene DOID:4448 macular degeneration no_association ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19169411|REF_RGD_ID:8661264 8826727 Serping1 serpin family G member 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:1344082 D RGD:9068941 20200609 RGD DNA:SNPs:introns:c.52-130C>T, c.1030-865C>T (rs1005510, rs2511989) (human) PMID:20606025|REF_RGD_ID:8661640 8826727 Serping1 serpin family G member 1 gene DOID:4989 pancreatitis treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:9176084|REF_RGD_ID:8661649 8826727 Serping1 serpin family G member 1 gene DOID:5082 liver cirrhosis ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8826727 Serping1 serpin family G member 1 gene DOID:630 genetic disease ISO RGD:1344082 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12402344|PMID:1451784|PMID:14635117|PMID:15971231|PMID:16470590|PMID:17576681|PMID:18586324|PMID:18758157|PMID:21864911|PMID:22994404|PMID:23123409|PMID:23437219|PMID:2365061|PMID:24033266|PMID:24456027|PMID:25258140|PMID:2563376|PMID:25741868|PMID:26154504|PMID:26535898|PMID:28492532|PMID:29753808|PMID:3178731|PMID:3756141|PMID:8125476|PMID:9536098 8826727 Serping1 serpin family G member 1 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1344082 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:24494798|REF_RGD_ID:8661641 8826727 Serping1 serpin family G member 1 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:17538891|REF_RGD_ID:8661645 8826727 Serping1 serpin family G member 1 gene DOID:9000728 Traumatic Shock treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:9377162|REF_RGD_ID:8661648 8826727 Serping1 serpin family G member 1 gene DOID:9001488 Human Influenza ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8826727 Serping1 serpin family G member 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:16367929|REF_RGD_ID:1580273 8826727 Serping1 serpin family G member 1 gene DOID:9002625 Complement Component 4, Partial Deficiency Of ISO RGD:1344082 D RGD:7240710 20180130 OMIM 8826727 Serping1 serpin family G member 1 gene DOID:9002625 Complement Component 4, Partial Deficiency Of ISO RGD:1344082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor PMID:7883978 8826727 Serping1 serpin family G member 1 gene DOID:9003104 Intracranial Hemorrhages treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD associated with Stroke PMID:21779364|REF_RGD_ID:6484131 8826727 Serping1 serpin family G member 1 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:23991040|REF_RGD_ID:8661644 8826727 Serping1 serpin family G member 1 gene DOID:9004347 Skeletal Muscle Reperfusion Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:24585935|PMID:29395422|REF_RGD_ID:13525001|REF_RGD_ID:13542089 8826727 Serping1 serpin family G member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:11685347|REF_RGD_ID:8661650 8826727 Serping1 serpin family G member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8826727 Serping1 serpin family G member 1 gene DOID:9005372 Inflammation treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:27153875|REF_RGD_ID:13525005 8826727 Serping1 serpin family G member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:18652771|REF_RGD_ID:8661643 8826727 Serping1 serpin family G member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8826727 Serping1 serpin family G member 1 gene DOID:9007730 Burns treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:22447201|REF_RGD_ID:6903314 8826727 Serping1 serpin family G member 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:16942749|REF_RGD_ID:8661647 8826727 Serping1 serpin family G member 1 gene DOID:9408 acute myocardial infarction ISO RGD:1344082 D RGD:9068941 20200609 RGD PMID:26476955|REF_RGD_ID:11552746 8826727 Serping1 serpin family G member 1 gene DOID:9408 acute myocardial infarction ISO RGD:735225 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:26476955|REF_RGD_ID:11552746 8826759 Adck1 aarF domain containing kinase 1 gene DOID:630 genetic disease ISO RGD:1317936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826804 Uspl1 ubiquitin specific peptidase like 1 gene DOID:630 genetic disease ISO RGD:1321964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826820 Gemin8 gem nuclear organelle associated protein 8 gene DOID:12849 autistic disorder ISO RGD:1343150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8826820 Gemin8 gem nuclear organelle associated protein 8 gene DOID:630 genetic disease ISO RGD:1343150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826820 Gemin8 gem nuclear organelle associated protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8826828 NRXN3 neurexin 3 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1353595 D RGD:9068941 20240321 RGD DNA:SNP,haplotype:Chr14:rs8019381, rs760288|rs8019381|2rs2293847 (human) PMID:17804423|REF_RGD_ID:405096431 8826828 NRXN3 neurexin 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1353595 D RGD:9068941 20240321 RGD DNA:polymorphisms:cds:(rs199840331, p.Y234), p.G696, p.T99P (human) PMID:25450229|REF_RGD_ID:11526246 8826828 NRXN3 neurexin 3 gene DOID:9001310 Tobacco Use Disorder severity ISO RGD:1353595 D RGD:9068941 20240321 RGD associated with schizophrenia;DNA:SNP:exon 5 (rs1004212) (human) PMID:19658047|REF_RGD_ID:405096432 8826828 Nrxn3 neurexin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353595 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8826828 Nrxn3 neurexin 3 gene DOID:12849 autistic disorder ISO RGD:1353595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8826828 Nrxn3 neurexin 3 gene DOID:14261 fragile X syndrome ISO RGD:1553035 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus,somatosendory cortex PMID:26235839|REF_RGD_ID:11554325 8826828 Nrxn3 neurexin 3 gene DOID:303 substance-related disorder ISO RGD:1353595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8826828 Nrxn3 neurexin 3 gene DOID:630 genetic disease ISO RGD:1353595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826828 Nrxn3 neurexin 3 gene DOID:9001310 Tobacco Use Disorder ameliorates ISO RGD:1353595 D RGD:9068941 20240314 RGD DNA:SNP, haplotype: :rs1424850|rs221497|rs221473 (human) PMID:22716474|REF_RGD_ID:402528880 8826828 Nrxn3 neurexin 3 gene DOID:9007661 Dwarfism ISO RGD:1353595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8826879 Znf367 zinc finger protein 367 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1316151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 8826879 Znf367 zinc finger protein 367 gene DOID:1059 intellectual disability ISO RGD:1316151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8826879 Znf367 zinc finger protein 367 gene DOID:630 genetic disease ISO RGD:1316151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826879 Znf367 zinc finger protein 367 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316151 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351699 8826879 Znf367 zinc finger protein 367 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316151 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351699 8826894 Pglyrp1 peptidoglycan recognition protein 1 gene DOID:630 genetic disease ISO RGD:1351704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826894 Pglyrp1 peptidoglycan recognition protein 1 gene DOID:9000998 Brain Injuries ISO RGD:1351704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8826901 Spata6l spermatogenesis associated 6 like gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1320709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8826901 Spata6l spermatogenesis associated 6 like gene DOID:630 genetic disease ISO RGD:1320709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826937 Ankrd12 ankyrin repeat domain 12 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1320836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8826937 Ankrd12 ankyrin repeat domain 12 gene DOID:10283 prostate cancer ISO RGD:1320836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8826937 Ankrd12 ankyrin repeat domain 12 gene DOID:1059 intellectual disability ISO RGD:1320836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8826937 Ankrd12 ankyrin repeat domain 12 gene DOID:543 dystonia ISO RGD:1320836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8826937 Ankrd12 ankyrin repeat domain 12 gene DOID:630 genetic disease ISO RGD:1320836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826960 Calhm4 calcium homeostasis modulator family member 4 gene DOID:0060163 body dysmorphic disorder ISO RGD:1314099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8826960 Calhm4 calcium homeostasis modulator family member 4 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1314099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8826960 Calhm4 calcium homeostasis modulator family member 4 gene DOID:1059 intellectual disability ISO RGD:1314099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8826960 Calhm4 calcium homeostasis modulator family member 4 gene DOID:10907 microcephaly ISO RGD:1314099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8826960 Calhm4 calcium homeostasis modulator family member 4 gene DOID:1826 epilepsy ISO RGD:1314099 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8826960 Calhm4 calcium homeostasis modulator family member 4 gene DOID:630 genetic disease ISO RGD:1314099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8826960 Calhm4 calcium homeostasis modulator family member 4 gene DOID:9000495 Tremor ISO RGD:1314099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8826970 Cog8 component of oligomeric golgi complex 8 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8826970 Cog8 component of oligomeric golgi complex 8 gene DOID:0070260 congenital disorder of glycosylation type IIh ISO RGD:1316049 D RGD:7240710 20180130 OMIM 8826970 Cog8 component of oligomeric golgi complex 8 gene DOID:0070260 congenital disorder of glycosylation type IIh ISO RGD:1316049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CDG IIh | ClinVar Annotator: match by term: COG8-CDG PMID:16199547|PMID:17220172|PMID:17331980|PMID:21811164|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30690882 8826970 Cog8 component of oligomeric golgi complex 8 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1316049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 8826970 Cog8 component of oligomeric golgi complex 8 gene DOID:630 genetic disease ISO RGD:1316049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8827000 Slc17a1 solute carrier family 17 member 1 gene DOID:630 genetic disease ISO RGD:1350724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827000 Slc17a1 solute carrier family 17 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8827026 Rogdi rogdi atypical leucine zipper gene DOID:0060041 autism spectrum disorder ISO RGD:1603007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 8827026 Rogdi rogdi atypical leucine zipper gene DOID:0080600 COVID-19 ISO RGD:1603007 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8827026 Rogdi rogdi atypical leucine zipper gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8827026 Rogdi rogdi atypical leucine zipper gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603007 D RGD:7240710 20180130 OMIM 8827026 Rogdi rogdi atypical leucine zipper gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:16199547|PMID:16411202|PMID:17576681|PMID:22424600|PMID:22482807|PMID:23086778|PMID:24630287|PMID:25565929|PMID:25741868|PMID:26467025|PMID:28492532|PMID:3236364|PMID:4372200|PMID:8133980|PMID:9536098 8827026 Rogdi rogdi atypical leucine zipper gene DOID:1826 epilepsy ISO RGD:1603007 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 8827026 Rogdi rogdi atypical leucine zipper gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603007 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8827026 Rogdi rogdi atypical leucine zipper gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation PMID:12114483|PMID:17855048|PMID:25805166|PMID:27257017|PMID:28492532 8827026 Rogdi rogdi atypical leucine zipper gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8827026 Rogdi rogdi atypical leucine zipper gene DOID:630 genetic disease ISO RGD:1603007 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8827041 Rac2 Rac family small GTPase 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457648 8827041 Rac2 Rac family small GTPase 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8827041 Rac2 Rac family small GTPase 2 gene DOID:0060058 lymphoma ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783987 8827041 Rac2 Rac family small GTPase 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316839 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8827041 Rac2 Rac family small GTPase 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8827041 Rac2 Rac family small GTPase 2 gene DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia ISO RGD:1316839 D RGD:7240710 20200902 OMIM 8827041 Rac2 Rac family small GTPase 2 gene DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia PMID:25741868|PMID:28492532|PMID:30654050|PMID:30723080|PMID:31071452 8827041 Rac2 Rac family small GTPase 2 gene DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia ISO RGD:1316839 D RGD:7240710 20200902 OMIM 8827041 Rac2 Rac family small GTPase 2 gene DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia PMID:25512081|PMID:25741868|PMID:28492532 8827041 Rac2 Rac family small GTPase 2 gene DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis ISO RGD:1316839 D RGD:7240710 20180130 OMIM 8827041 Rac2 Rac family small GTPase 2 gene DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis ISO RGD:1316839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutrophil immunodeficiency syndrome PMID:10758162|PMID:10961859|PMID:11278678|PMID:14676277|PMID:17576681|PMID:21167572|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30723080|PMID:33188496|PMID:9536098 8827041 Rac2 Rac family small GTPase 2 gene DOID:10283 prostate cancer ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8827041 Rac2 Rac family small GTPase 2 gene DOID:114 heart disease ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 8827041 Rac2 Rac family small GTPase 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8827041 Rac2 Rac family small GTPase 2 gene DOID:1909 melanoma ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 8827041 Rac2 Rac family small GTPase 2 gene DOID:627 severe combined immunodeficiency ISO RGD:1316839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25741868|PMID:28492532|PMID:30723080 8827041 Rac2 Rac family small GTPase 2 gene DOID:630 genetic disease ISO RGD:1316839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8827041 Rac2 Rac family small GTPase 2 gene DOID:9000918 Disease Progression ISO RGD:1316839 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35331739 8827041 Rac2 Rac family small GTPase 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1316839 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 8827041 Rac2 Rac family small GTPase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8827041 Rac2 Rac family small GTPase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1316839 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35331739 8827095 Pxdnl peroxidasin like gene DOID:630 genetic disease ISO RGD:1606718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827124 Nudt16l1 nudix hydrolase 16 like 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1342997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8827124 Nudt16l1 nudix hydrolase 16 like 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1342997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8827124 Nudt16l1 nudix hydrolase 16 like 1 gene DOID:1826 epilepsy ISO RGD:1342997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8827124 Nudt16l1 nudix hydrolase 16 like 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342997 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8827124 Nudt16l1 nudix hydrolase 16 like 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1342997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8827124 Nudt16l1 nudix hydrolase 16 like 1 gene DOID:630 genetic disease ISO RGD:1342997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827143 Cd101 CD101 molecule gene DOID:630 genetic disease ISO RGD:1322923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827163 Strap serine/threonine kinase receptor associated protein gene DOID:0080199 colorectal carcinoma ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 8827163 Strap serine/threonine kinase receptor associated protein gene DOID:299 adenocarcinoma ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 8827163 Strap serine/threonine kinase receptor associated protein gene DOID:3168 squamous cell neoplasm ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 8827163 Strap serine/threonine kinase receptor associated protein gene DOID:3905 lung carcinoma ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 8827163 Strap serine/threonine kinase receptor associated protein gene DOID:4552 large cell carcinoma ISO RGD:1322398 D RGD:9068941 20200609 RGD PMID:16778189|REF_RGD_ID:1581429 8827163 Strap serine/threonine kinase receptor associated protein gene DOID:630 genetic disease ISO RGD:1322398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827163 Strap serine/threonine kinase receptor associated protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15720808 8827179 Tmem165 transmembrane protein 165 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1601750 D RGD:7240710 20180130 OMIM 8827179 Tmem165 transmembrane protein 165 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1601750 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:17576681|PMID:22521416|PMID:22683087|PMID:25741868|PMID:26657937|PMID:28492532|PMID:33413482|PMID:9536098 8827179 Tmem165 transmembrane protein 165 gene DOID:10487 Hirschsprung's disease ISO RGD:1601750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8827179 Tmem165 transmembrane protein 165 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1601750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:28492532 8827179 Tmem165 transmembrane protein 165 gene DOID:630 genetic disease ISO RGD:1601750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8827179 Tmem165 transmembrane protein 165 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8827192 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1320401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8827192 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:0090112 Nasu-Hakola disease ISO RGD:1320401 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PMID:12080485|PMID:12754369|PMID:12883936|PMID:12925681|PMID:15883308|PMID:18546367|PMID:21834902|PMID:23150934|PMID:23318515|PMID:23399524|PMID:23582655|PMID:23870839|PMID:24899047|PMID:24990881|PMID:25615530|PMID:25741868|PMID:27995897|PMID:28492532|PMID:28559417|PMID:28768830|PMID:29142083|PMID:29557178|PMID:30042649|PMID:33969597 8827192 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:10652 Alzheimer's disease ISO RGD:1320401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24663666|PMID:28714976 8827192 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:1307 dementia ISO RGD:1320401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18546367 8827192 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:4166 syphilis ISO RGD:1320401 D RGD:9068941 20210618 RGD associated with age;protein:increased expression:CSF (human) PMID:32117023|REF_RGD_ID:127285386 8827192 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:630 genetic disease ISO RGD:1320401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25886450|PMID:27589997|PMID:28492532|PMID:28620717|PMID:32638105 8827192 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:9001414 Neurosyphilis disease_progression ISO RGD:1320401 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:32117023|REF_RGD_ID:127285386 8827192 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:9003895 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 ISO RGD:1320401 D RGD:7240710 20190315 OMIM 8827192 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:9003895 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 ISO RGD:1320401 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 PMID:12080485|PMID:12754369|PMID:12883936|PMID:12925681|PMID:15883308|PMID:19019460|PMID:21834902|PMID:23150934|PMID:23318515|PMID:23399524|PMID:23582655|PMID:24119542|PMID:24139279|PMID:24685331|PMID:24899047|PMID:25186855|PMID:25615530|PMID:25741868|PMID:25886450|PMID:27067662|PMID:27084067|PMID:27589997|PMID:27995897|PMID:28376694|PMID:28492532|PMID:28620717|PMID:28768830|PMID:29142083|PMID:29723869|PMID:31217084|PMID:32319261|PMID:32638105|PMID:32894242|PMID:6681564 8827192 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:905 Zellweger syndrome ISO RGD:1320401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8827192 Trem2 triggering receptor expressed on myeloid cells 2 gene DOID:9255 frontotemporal dementia ISO RGD:1320401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23582655|PMID:24119542|PMID:25186855|PMID:25741868|PMID:28492532|PMID:29723869 8827201 Gsx2 GS homeobox 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1602642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8827201 Gsx2 GS homeobox 2 gene DOID:630 genetic disease ISO RGD:1602642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827201 Gsx2 GS homeobox 2 gene DOID:9007719 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 ISO RGD:1602642 D RGD:7240710 20191127 OMIM 8827201 Gsx2 GS homeobox 2 gene DOID:9007719 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 ISO RGD:1602642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2 PMID:25741868|PMID:31412107 8827226 Asprv1 aspartic peptidase retroviral like 1 gene DOID:10283 prostate cancer ISO RGD:1604987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8827226 Asprv1 aspartic peptidase retroviral like 1 gene DOID:1697 ichthyosis ISO RGD:12276125 D RGD:9068941 20211203 OMIA Ichthyosis, ASPRV1-related PMID:28249031|PMID:34796560 8827226 Asprv1 aspartic peptidase retroviral like 1 gene DOID:630 genetic disease ISO RGD:1604987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827226 Asprv1 aspartic peptidase retroviral like 1 gene DOID:9003075 Lamellar Ichthyosis, Autosomal Dominant Form ISO RGD:1604987 D RGD:7240710 20200902 OMIM 8827226 Asprv1 aspartic peptidase retroviral like 1 gene DOID:9003075 Lamellar Ichthyosis, Autosomal Dominant Form ISO RGD:1604987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant lamellar ichthyosis PMID:32516568|PMID:6499258 8827232 Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8827232 Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 gene DOID:12849 autistic disorder ISO RGD:1345088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8827232 Pin4 peptidylprolyl cis/trans isomerase, NIMA-interacting 4 gene DOID:630 genetic disease ISO RGD:1345088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827241 Rab6a RAB6A, member RAS oncogene family gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1320484 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8827241 Rab6a RAB6A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1320484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8827241 Rab6a RAB6A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1320484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827259 Atr ATR serine/threonine kinase gene DOID:0050569 Seckel syndrome ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8827259 Atr ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 ISO RGD:1314047 D RGD:7240710 20180130 OMIM 8827259 Atr ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 ISO RGD:1314047 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1 PMID:10691732|PMID:11721054|PMID:12640452|PMID:15987455|PMID:16199547|PMID:17010193|PMID:17576681|PMID:18414213|PMID:21228398|PMID:23111928|PMID:23144622|PMID:24033266|PMID:25741868|PMID:26193622|PMID:26689913|PMID:26845104|PMID:28492532|PMID:29439820|PMID:30159786|PMID:30199583|PMID:30262796|PMID:30995915|PMID:32522261|PMID:32606146|PMID:33057211|PMID:34008015|PMID:9536098 8827259 Atr ATR serine/threonine kinase gene DOID:0070007 Seckel syndrome 1 susceptibility ISO RGD:1314047 D RGD:9068941 20200806 RGD DNA:point mutation:2101A>G (human) PMID:12640452|REF_RGD_ID:1599404 8827259 Atr ATR serine/threonine kinase gene DOID:0080202 adenoid cystic carcinoma treatment ISO RGD:1314047 D RGD:9068941 20210827 RGD PMID:32001675|REF_RGD_ID:150340693 8827259 Atr ATR serine/threonine kinase gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ATR-X-related syndrome PMID:25741868|PMID:28492532 8827259 Atr ATR serine/threonine kinase gene DOID:10316 pneumoconiosis ISO RGD:1314047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 8827259 Atr ATR serine/threonine kinase gene DOID:10652 Alzheimer's disease ISO RGD:1314047 D RGD:9068941 20200609 RGD PMID:23861893|REF_RGD_ID:10047419 8827259 Atr ATR serine/threonine kinase gene DOID:10907 microcephaly ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8827259 Atr ATR serine/threonine kinase gene DOID:1324 lung cancer treatment ISO RGD:1314047 D RGD:9068941 20210827 RGD PMID:25010037|REF_RGD_ID:150340694 8827259 Atr ATR serine/threonine kinase gene DOID:1612 breast cancer ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:28492532 8827259 Atr ATR serine/threonine kinase gene DOID:1793 pancreatic cancer ISO RGD:1314047 D RGD:9068941 20200609 RGD DNA:SNP: :340C>T (human) PMID:18381943|REF_RGD_ID:2317234 8827259 Atr ATR serine/threonine kinase gene DOID:219 colon cancer disease_progression ISO RGD:1314047 D RGD:9068941 20210827 RGD DNA:mutations: : PMID:17879369|REF_RGD_ID:150340676 8827259 Atr ATR serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1314047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10691732|PMID:11721054|PMID:12640452|PMID:15987455|PMID:16199547|PMID:18414213|PMID:21228398|PMID:23144622|PMID:25741868|PMID:26193622|PMID:28492532 8827259 Atr ATR serine/threonine kinase gene DOID:9001916 Fetal Death ISO RGD:733730 D RGD:9068941 20210827 RGD PMID:15282542|REF_RGD_ID:150340675 8827259 Atr ATR serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25415046 8827259 Atr ATR serine/threonine kinase gene DOID:9002856 Cutaneous Telangiectasia and Cancer Syndrome, Familial ISO RGD:1314047 D RGD:7240710 20180130 OMIM 8827259 Atr ATR serine/threonine kinase gene DOID:9002856 Cutaneous Telangiectasia and Cancer Syndrome, Familial ISO RGD:1314047 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cutaneous telangiectasia and cancer syndrome, familial PMID:15987455|PMID:17010193|PMID:17576681|PMID:18414213|PMID:22341969|PMID:24033266|PMID:25741868|PMID:26845104|PMID:28492532|PMID:30262796|PMID:30995915|PMID:32522261|PMID:32606146|PMID:33057211|PMID:34008015|PMID:9536098 8827259 Atr ATR serine/threonine kinase gene DOID:9004643 Urologic Neoplasms ISO RGD:1314047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 8827259 Atr ATR serine/threonine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314047 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15987455|PMID:18414213|PMID:25741868|PMID:26845104|PMID:28492532|PMID:33558524 8827259 Atr ATR serine/threonine kinase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial neoplasm PMID:19470935|PMID:21228398|PMID:23144622|PMID:28492532 8827259 Atr ATR serine/threonine kinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1314047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:25741868|PMID:28492532 8827259 Atr ATR serine/threonine kinase gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1314047 D RGD:9068941 20210827 RGD PMID:28820634|REF_RGD_ID:150340692 8827310 Tsku tsukushi, small leucine rich proteoglycan gene DOID:1059 intellectual disability ISO RGD:1601763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8827310 Tsku tsukushi, small leucine rich proteoglycan gene DOID:630 genetic disease ISO RGD:1601763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827319 Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8827319 Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1353448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 8827319 Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:557 kidney disease ISO RGD:1353448 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases PMID:25741868 8827319 Dnajb7 DnaJ heat shock protein family (Hsp40) member B7 gene DOID:630 genetic disease ISO RGD:1353448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827324 Tff1 trefoil factor 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1344671 D RGD:9068941 20200609 RGD PMID:15375487|REF_RGD_ID:2292005 8827324 Tff1 trefoil factor 1 gene DOID:0060180 colitis ISO RGD:620707 D RGD:9068941 20200609 RGD PMID:8836141|REF_RGD_ID:625375 8827324 Tff1 trefoil factor 1 gene DOID:0080365 endometrial hyperplasia ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:9221798|REF_RGD_ID:2298572 8827324 Tff1 trefoil factor 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1344671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8827324 Tff1 trefoil factor 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1344671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8827324 Tff1 trefoil factor 1 gene DOID:10283 prostate cancer ISO RGD:1344671 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:10458410|REF_RGD_ID:2298571 8827324 Tff1 trefoil factor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16467092|REF_RGD_ID:2291999 8827324 Tff1 trefoil factor 1 gene DOID:10534 stomach cancer ISO RGD:732017 D RGD:9068941 20220825 MouseDO OMIM:137215 | OMIM:613659 8827324 Tff1 trefoil factor 1 gene DOID:10608 celiac disease ISO RGD:1344671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8827324 Tff1 trefoil factor 1 gene DOID:10808 gastric ulcer ISO RGD:620707 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stomach mucosa PMID:11350545|REF_RGD_ID:2292012 8827324 Tff1 trefoil factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18283638|REF_RGD_ID:2291996 8827324 Tff1 trefoil factor 1 gene DOID:1380 endometrial cancer ISO RGD:1344671 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:10835496|REF_RGD_ID:2298569 8827324 Tff1 trefoil factor 1 gene DOID:2394 ovarian cancer ISO RGD:1344671 D RGD:9068941 20200609 RGD PMID:17624412|REF_RGD_ID:2292003 8827324 Tff1 trefoil factor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium PMID:7965392|REF_RGD_ID:2298573 8827324 Tff1 trefoil factor 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:9221798|REF_RGD_ID:2298572 8827324 Tff1 trefoil factor 1 gene DOID:3493 signet ring cell adenocarcinoma ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18283638|REF_RGD_ID:2291996 8827324 Tff1 trefoil factor 1 gene DOID:3702 cervical adenocarcinoma ISO RGD:1344671 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix PMID:10727981|REF_RGD_ID:2298570 8827324 Tff1 trefoil factor 1 gene DOID:4001 ovarian carcinoma ISO RGD:1344671 D RGD:9068941 20200609 RGD PMID:9066601|REF_RGD_ID:2292004 8827324 Tff1 trefoil factor 1 gene DOID:630 genetic disease ISO RGD:1344671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827324 Tff1 trefoil factor 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8827324 Tff1 trefoil factor 1 gene DOID:9001295 Achlorhydria ISO RGD:620707 D RGD:9068941 20200609 RGD protein:increased secretion:stomach PMID:11903739|REF_RGD_ID:2292010 8827324 Tff1 trefoil factor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1344671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19880587 8827324 Tff1 trefoil factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1344671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 8827324 Tff1 trefoil factor 1 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:732017 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 8827324 Tff1 trefoil factor 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1344671 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16267614|REF_RGD_ID:2292002 8827324 Tff1 trefoil factor 1 gene DOID:9263 homocystinuria ISO RGD:1344671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8827324 Tff1 trefoil factor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344671 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:0050700 cardiomyopathy ISO RGD:2032 D RGD:9068941 20200609 RGD PMID:24244825|REF_RGD_ID:13702879 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:0060256 Dowling-Degos disease ISO RGD:735847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:0060258 reticulate acropigmentation of Kitamura ISO RGD:735847 D RGD:7240710 20240320 OMIM 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:0060258 reticulate acropigmentation of Kitamura ISO RGD:735847 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura PMID:23666529|PMID:25741868|PMID:28492532 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:0081292 traumatic brain injury ISO RGD:2032 D RGD:9068941 20200609 RGD PMID:22489706|REF_RGD_ID:13703033 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:0110050 Alzheimer's disease 18 ISO RGD:735847 D RGD:7240710 20240320 OMIM 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:0110050 Alzheimer's disease 18 ISO RGD:735847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease 18 PMID:19608551|PMID:24055016 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:10652 Alzheimer's disease ISO RGD:2032 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, hippocampus PMID:23296102|PMID:24792732|REF_RGD_ID:13703032|REF_RGD_ID:13703037 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:10652 Alzheimer's disease ISO RGD:735847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:1074 kidney failure ISO RGD:735847 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:14004 thoracic aortic aneurysm ISO RGD:2032 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:20621845|REF_RGD_ID:5129489 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:1824 status epilepticus ISO RGD:2032 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:15950787|REF_RGD_ID:1559151 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:2717 Bloom syndrome ISO RGD:735847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:2986 IgA glomerulonephritis ISO RGD:735847 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:5199 ureteral obstruction ISO RGD:735848 D RGD:9068941 20200609 RGD PMID:24103556|REF_RGD_ID:13703030 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:630 genetic disease ISO RGD:735847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:83 cataract ISO RGD:2032 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:23941810|REF_RGD_ID:13703031 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:9000784 Fibrosis ISO RGD:735847 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:735847 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:9002457 Experimental Arthritis ISO RGD:2032 D RGD:9068941 20200609 RGD PMID:23897050|REF_RGD_ID:13703039 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:9002775 Cognitive Dysfunction ISO RGD:2032 D RGD:9068941 20200609 RGD associated with Sleep Deprivation PMID:28455102|REF_RGD_ID:13782059 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:9003713 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis ISO RGD:735847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corticobasal syndrome PMID:25741868 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:9008939 Breast Neoplasms ISO RGD:735847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:9256 colorectal cancer ISO RGD:735847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8827330 Adam10 ADAM metallopeptidase domain 10 gene DOID:9256 colorectal cancer severity ISO RGD:735847 D RGD:9068941 20220728 RGD PMID:31565100|REF_RGD_ID:153298908 8827365 Porcn porcupine O-acyltransferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8827365 Porcn porcupine O-acyltransferase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8827365 Porcn porcupine O-acyltransferase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8827365 Porcn porcupine O-acyltransferase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8827365 Porcn porcupine O-acyltransferase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8827365 Porcn porcupine O-acyltransferase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8827365 Porcn porcupine O-acyltransferase gene DOID:12849 autistic disorder ISO RGD:1603972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8827365 Porcn porcupine O-acyltransferase gene DOID:2120 focal dermal hypoplasia ISO RGD:1603972 D RGD:7240710 20180130 OMIM 8827365 Porcn porcupine O-acyltransferase gene DOID:2120 focal dermal hypoplasia ISO RGD:1603972 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal dermal hypoplasia PMID:17546030|PMID:17546031|PMID:18325042|PMID:19277062|PMID:19309688|PMID:19586929|PMID:19863546|PMID:21484999|PMID:22888000|PMID:25640089|PMID:25741868|PMID:28492532|PMID:30022487|PMID:32141364 8827365 Porcn porcupine O-acyltransferase gene DOID:630 genetic disease ISO RGD:1603972 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17546030|PMID:17546031|PMID:19277062|PMID:19309688|PMID:20854095|PMID:21484999|PMID:25640089|PMID:25741868|PMID:28492532 8827365 Porcn porcupine O-acyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1603972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741874 8827441 Svil supervillin gene DOID:0112108 myofibrillar myopathy 10 ISO RGD:1314924 D RGD:7240710 20201021 OMIM 8827441 Svil supervillin gene DOID:0112108 myofibrillar myopathy 10 ISO RGD:1314924 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 10 PMID:25741868|PMID:28492532|PMID:32779703 8827441 Svil supervillin gene DOID:630 genetic disease ISO RGD:1314924 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8827441 Svil supervillin gene DOID:9119 acute myeloid leukemia ISO RGD:1314924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8827491 Stau2 staufen double-stranded RNA binding protein 2 gene DOID:10629 microphthalmia ISO RGD:621479 D RGD:9068941 20200609 RGD PMID:22940085|REF_RGD_ID:10043154 8827491 Stau2 staufen double-stranded RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1351558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827491 Stau2 staufen double-stranded RNA binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8827526 Enosf1 enolase superfamily member 1 gene DOID:12849 autistic disorder ISO RGD:1346972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8827526 Enosf1 enolase superfamily member 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1346972 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25741868|PMID:35931051 8827526 Enosf1 enolase superfamily member 1 gene DOID:630 genetic disease ISO RGD:1346972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827526 Enosf1 enolase superfamily member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8827526 Enosf1 enolase superfamily member 1 gene DOID:9006803 DYSKERATOSIS CONGENITA, DIGENIC ISO RGD:1346972 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, digenic PMID:25741868|PMID:35931051 8827526 Enosf1 enolase superfamily member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1346972 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs699517 (human) PMID:28347776|REF_RGD_ID:152995291 8827554 Pnisr PNN interacting serine and arginine rich protein gene DOID:630 genetic disease ISO RGD:1316570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827587 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:11054 urinary bladder cancer ISO RGD:736098 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:26929985|REF_RGD_ID:14696811 8827587 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:4450 renal cell carcinoma ISO RGD:736098 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:21132003|REF_RGD_ID:14696812 8827587 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:736098 D RGD:9068941 20200609 RGD PMID:28672194|REF_RGD_ID:14696810 8827587 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:630 genetic disease ISO RGD:736098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827587 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:9000740 ST Elevation Myocardial Infarction severity ISO RGD:736098 D RGD:9068941 20200609 RGD PMID:27441480|REF_RGD_ID:14696800 8827587 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8827587 Atp5mc2 ATP synthase membrane subunit c locus 2 gene DOID:9970 obesity ISO RGD:731824 D RGD:9068941 20200609 RGD PMID:26709097|REF_RGD_ID:11535661 8827599 Stx16 syntaxin 16 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1319758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 8827599 Stx16 syntaxin 16 gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:1319758 D RGD:7240710 20180130 OMIM 8827599 Stx16 syntaxin 16 gene DOID:0080222 pseudohypoparathyroidism type IB ISO RGD:1319758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B PMID:14561710|PMID:15579741|PMID:15800843|PMID:25741868|PMID:28492532 8827599 Stx16 syntaxin 16 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1319758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8827599 Stx16 syntaxin 16 gene DOID:630 genetic disease ISO RGD:1319758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8827649 Nxph3 neurexophilin 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:735663 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8827649 Nxph3 neurexophilin 3 gene DOID:630 genetic disease ISO RGD:735663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827655 Traf2 TNF receptor associated factor 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8827655 Traf2 TNF receptor associated factor 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8827655 Traf2 TNF receptor associated factor 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321367 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8827655 Traf2 TNF receptor associated factor 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8827655 Traf2 TNF receptor associated factor 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1321367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8827655 Traf2 TNF receptor associated factor 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8827655 Traf2 TNF receptor associated factor 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321367 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8827655 Traf2 TNF receptor associated factor 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8827655 Traf2 TNF receptor associated factor 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1321367 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8827655 Traf2 TNF receptor associated factor 2 gene DOID:1826 epilepsy ISO RGD:1321367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8827655 Traf2 TNF receptor associated factor 2 gene DOID:3652 Leigh disease ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8827655 Traf2 TNF receptor associated factor 2 gene DOID:630 genetic disease ISO RGD:1321367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827655 Traf2 TNF receptor associated factor 2 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1310457 D RGD:9068941 20200709 RGD PMID:31828147|REF_RGD_ID:35316072 8827655 Traf2 TNF receptor associated factor 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321367 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8827671 Sh2d3c SH2 domain containing 3C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316391 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8827671 Sh2d3c SH2 domain containing 3C gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316391 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8827671 Sh2d3c SH2 domain containing 3C gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1316391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8827671 Sh2d3c SH2 domain containing 3C gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1316391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8827671 Sh2d3c SH2 domain containing 3C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316391 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8827671 Sh2d3c SH2 domain containing 3C gene DOID:630 genetic disease ISO RGD:1316391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827706 Cryz crystallin zeta gene DOID:0060041 autism spectrum disorder ISO RGD:1323202 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8827706 Cryz crystallin zeta gene DOID:630 genetic disease ISO RGD:1323202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827730 Ankib1 ankyrin repeat and IBR domain containing 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1316285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:25741868 8827730 Ankib1 ankyrin repeat and IBR domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1316285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8827730 Ankib1 ankyrin repeat and IBR domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8827730 Ankib1 ankyrin repeat and IBR domain containing 1 gene DOID:630 genetic disease ISO RGD:1316285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827730 Ankib1 ankyrin repeat and IBR domain containing 1 gene DOID:9000043 Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas ISO RGD:1316285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas PMID:25741868 8827763 Cartpt CART prepropeptide gene DOID:2030 anxiety disorder ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12600694 8827763 Cartpt CART prepropeptide gene DOID:630 genetic disease ISO RGD:1605714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827763 Cartpt CART prepropeptide gene DOID:7998 hyperthyroidism ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12395121 8827763 Cartpt CART prepropeptide gene DOID:9002211 Hyperalgesia ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21167239 8827763 Cartpt CART prepropeptide gene DOID:9004354 Alcohol-Related Disorders ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22823101 8827763 Cartpt CART prepropeptide gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8827763 Cartpt CART prepropeptide gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605714 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20886038 8827763 Cartpt CART prepropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:2272 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic B cell PMID:16443761|REF_RGD_ID:2313632 8827763 Cartpt CART prepropeptide gene DOID:9970 obesity ISO RGD:1605714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:11522684|PMID:15326462|PMID:25741868 8827763 Cartpt CART prepropeptide gene DOID:9970 obesity no_association ISO RGD:1605714 D RGD:9068941 20200609 RGD DNA:deletion, substitution: :1457delA, 1475A>G (human) PMID:10574510|REF_RGD_ID:2313634 8827763 Cartpt CART prepropeptide gene DOID:9970 obesity no_association ISO RGD:1605714 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr (human) PMID:10805512|REF_RGD_ID:2313633 8827763 Cartpt CART prepropeptide gene DOID:9970 obesity susceptibility ISO RGD:1605714 D RGD:7240710 20230505 OMIM 8827770 Tmx3 thioredoxin related transmembrane protein 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1348440 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8827770 Tmx3 thioredoxin related transmembrane protein 3 gene DOID:11372 megacolon ISO RGD:1348440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8827770 Tmx3 thioredoxin related transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1348440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827770 Tmx3 thioredoxin related transmembrane protein 3 gene DOID:8445 intestinal volvulus ISO RGD:1348440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8827770 Tmx3 thioredoxin related transmembrane protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8827770 Tmx3 thioredoxin related transmembrane protein 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8827790 Tmem130 transmembrane protein 130 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8827790 Tmem130 transmembrane protein 130 gene DOID:630 genetic disease ISO RGD:1605559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827808 Tubgcp2 tubulin gamma complex component 2 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1320019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8827808 Tubgcp2 tubulin gamma complex component 2 gene DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ISO RGD:1320019 D RGD:7240710 20200226 OMIM 8827808 Tubgcp2 tubulin gamma complex component 2 gene DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ISO RGD:1320019 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures PMID:25741868|PMID:31630790|PMID:32368696|PMID:33458610 8827808 Tubgcp2 tubulin gamma complex component 2 gene DOID:630 genetic disease ISO RGD:1320019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827830 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1603963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:18940309|PMID:21607760|PMID:23536703|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:34177781 8827830 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0111754 Leber plus disease ISO RGD:1603963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber plus disease PMID:25741868 8827830 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1603963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532|PMID:29261183|PMID:30473481 8827830 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0112096 nuclear type mitochondrial complex I deficiency 16 ISO RGD:1603963 D RGD:7240710 20190315 OMIM 8827830 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:0112096 nuclear type mitochondrial complex I deficiency 16 ISO RGD:1603963 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 PMID:16199547|PMID:17576681|PMID:18940309|PMID:19542079|PMID:21607760|PMID:23536703|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26275793|PMID:26467025|PMID:28454995|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:31130284|PMID:32918965|PMID:34177781|PMID:34645488|PMID:34732400|PMID:34797029|PMID:34964562|PMID:9536098 8827830 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:3652 Leigh disease ISO RGD:1603963 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:16199547|PMID:17576681|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26275793|PMID:28492532|PMID:29581464|PMID:30473481|PMID:30581749|PMID:32005694|PMID:32348839|PMID:32918965|PMID:34177781|PMID:9536098 8827830 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:630 genetic disease ISO RGD:1603963 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25356970|PMID:25741868|PMID:28492532|PMID:29261183|PMID:29581464|PMID:30473481|PMID:30581749|PMID:34177781 8827830 Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603963 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh PMID:17576681|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26275793|PMID:28492532|PMID:29581464|PMID:30473481|PMID:30581749|PMID:32918965|PMID:34177781|PMID:9536098 8827868 Sulf1 sulfatase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733350 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8827868 Sulf1 sulfatase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:733350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127996 8827868 Sulf1 sulfatase 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733350 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 8827868 Sulf1 sulfatase 1 gene DOID:630 genetic disease ISO RGD:733350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8827868 Sulf1 sulfatase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17310998 8827916 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:1606290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:25741868 8827916 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:1606290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:25741868|PMID:28492532 8827916 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1606290 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:27066507|PMID:28492532 8827916 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ISO RGD:1606290 D RGD:7240710 20190320 OMIM 8827916 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ISO RGD:1606290 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 PMID:12075011|PMID:20598274|PMID:22504945|PMID:23918765|PMID:24088041|PMID:24344687|PMID:24430573|PMID:25638461|PMID:25741868|PMID:26633545|PMID:26944241|PMID:28492532|PMID:30026338|PMID:33144682|PMID:35393742 8827916 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:0111438 optic atrophy 5 ISO RGD:1606290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Optic atrophy 5 PMID:25741868 8827916 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:630 genetic disease ISO RGD:1606290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8827916 Yars2 tyrosyl-tRNA synthetase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1606290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:28812649 8827924 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:0060041 autism spectrum disorder ISO RGD:1353739 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8827924 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:10584 retinitis pigmentosa ISO RGD:1353739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 8827924 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:14791 Leber congenital amaurosis ISO RGD:1353739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 8827924 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:630 genetic disease ISO RGD:1353739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8827924 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:9000789 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ISO RGD:1353739 D RGD:7240710 20180130 OMIM 8827924 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:9000789 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ISO RGD:1353739 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ADAMTS18-related condition | ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus PMID:22686506|PMID:23818446|PMID:24874986|PMID:25741868|PMID:28492532|PMID:28512305 8827924 Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif 18 gene DOID:9002033 Knobloch Syndrome ISO RGD:1353739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:21862674|PMID:23667181|PMID:28492532 8827952 Mettl2a methyltransferase 2A, tRNA N3-cytidine gene DOID:630 genetic disease ISO RGD:1601800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:0060041 autism spectrum disorder ISO RGD:1318084 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:0060071 pre-malignant neoplasm ISO RGD:1318084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1318084 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 PMID:25741868 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:0070074 autosomal dominant intellectual developmental disorder 44 ISO RGD:1318084 D RGD:7240710 20190315 OMIM 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:0070074 autosomal dominant intellectual developmental disorder 44 ISO RGD:1318084 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY PMID:12551902|PMID:18388777|PMID:23033978|PMID:23934111|PMID:24038936|PMID:24896178|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28492532|PMID:28796471|PMID:28928363|PMID:28973398|PMID:31690835|PMID:32109419|PMID:36937954|PMID:36987741 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:0110486 autosomal recessive nonsyndromic deafness 28 ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 28 PMID:25741868|PMID:28492532|PMID:32109419 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:1059 intellectual disability ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:24038936|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28492532|PMID:32109419 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:10907 microcephaly ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:32581362 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:12849 autistic disorder ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:1826 epilepsy ISO RGD:1318084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1318084 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10652265|PMID:17391702|PMID:22397991|PMID:22495306|PMID:23033978|PMID:24038936|PMID:25363768|PMID:25741868|PMID:26721934|PMID:27418539|PMID:28191890|PMID:28492532|PMID:28928363|PMID:28973398|PMID:32109419 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:9000372 Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly ISO RGD:1318084 D RGD:7240710 20200408 OMIM 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:9000372 Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly ISO RGD:1318084 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY | ClinVar Annotator: match by term: TRIO-related condition PMID:22495306|PMID:25363768|PMID:25741868|PMID:27418539|PMID:28191890|PMID:28492532|PMID:28796471|PMID:28928363|PMID:28973398|PMID:32109419|PMID:36987741 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:9007188 Liver Neoplasms ISO RGD:1318084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:9008086 Developmental Disabilities ISO RGD:1318084 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:9008582 Developmental Disease ISO RGD:1318084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:9119 acute myeloid leukemia ISO RGD:1318084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 8827968 Trio trio Rho guanine nucleotide exchange factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318084 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8828043 Agpat4 1-acylglycerol-3-phosphate O-acyltransferase 4 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1354001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8828043 Agpat4 1-acylglycerol-3-phosphate O-acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1354001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828056 Kyat1 kynurenine aminotransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8828056 Kyat1 kynurenine aminotransferase 1 gene DOID:305 carcinoma ISO RGD:1315794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663906 8828056 Kyat1 kynurenine aminotransferase 1 gene DOID:630 genetic disease ISO RGD:1315794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828056 Kyat1 kynurenine aminotransferase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1315794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663906 8828056 Kyat1 kynurenine aminotransferase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1306912 D RGD:9068941 20200609 RGD PMID:16984225|REF_RGD_ID:2306289 8828083 Jazf1 JAZF zinc finger 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8828083 Jazf1 JAZF zinc finger 1 gene DOID:630 genetic disease ISO RGD:1604718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828083 Jazf1 JAZF zinc finger 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 8828083 Jazf1 JAZF zinc finger 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1604718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 8828083 Jazf1 JAZF zinc finger 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1604718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 8828083 Jazf1 JAZF zinc finger 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372903 8828092 Insm1 INSM transcriptional repressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1319934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 8828092 Insm1 INSM transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1319934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828098 Rab37 RAB37, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1312361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828133 Oosp2 oocyte secreted protein 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8828133 Oosp2 oocyte secreted protein 2 gene DOID:1059 intellectual disability ISO RGD:1603163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8828133 Oosp2 oocyte secreted protein 2 gene DOID:630 genetic disease ISO RGD:1603163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828143 Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:2717 Bloom syndrome ISO RGD:1344597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8828143 Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:630 genetic disease ISO RGD:1344597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828143 Gcnt3 glucosaminyl (N-acetyl) transferase 3, mucin type gene DOID:9256 colorectal cancer ISO RGD:1344597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8828162 Fam81a family with sequence similarity 81 member A gene DOID:2717 Bloom syndrome ISO RGD:1603268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8828162 Fam81a family with sequence similarity 81 member A gene DOID:630 genetic disease ISO RGD:1603268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828162 Fam81a family with sequence similarity 81 member A gene DOID:9256 colorectal cancer ISO RGD:1603268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737399 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:0060770 dextro-looped transposition of the great arteries susceptibility ISO RGD:737399 D RGD:9068941 20200609 RGD DNA:SNP: : (rs1051266) (human) PMID:22868813|REF_RGD_ID:11565105 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:737399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737399 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:34828430 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:11054 urinary bladder cancer ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21760912 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:12365 malaria ISO RGD:737399 D RGD:9068941 20210219 RGD DNA:SNP::g.80G>A (human) PMID:27198213|REF_RGD_ID:40903062 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:12849 autistic disorder ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:1289 neurodegenerative disease ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive neurodegenerative disease PMID:25741868|PMID:28492532|PMID:31623504 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:13550 angle-closure glaucoma ISO RGD:737399 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Glaucoma, primary closed-angle PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:31623504|PMID:34828430 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:14250 Down syndrome ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16845273|PMID:17431899 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:1826 epilepsy ISO RGD:737399 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:2531 hematologic cancer ameliorates ISO RGD:737399 D RGD:9068941 20210219 RGD DNA:missense mutation:CDS:p.H27R (human) PMID:21984221|REF_RGD_ID:10449413 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:4448 macular degeneration ISO RGD:737399 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:34828430 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:630 genetic disease ISO RGD:737399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:657 adenoma ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16963246 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:674 cleft palate ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:7693 abdominal aortic aneurysm susceptibility ISO RGD:737399 D RGD:9068941 20230831 RGD DNA:SNP:: (rs3788205) (human) PMID:18635682|REF_RGD_ID:329853746 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:784 chronic kidney disease ISO RGD:3695 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple (rat) PMID:21149507|REF_RGD_ID:7327184 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:83 cataract ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:12415512|PMID:25456301|PMID:28492532 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:8501 fundus dystrophy ISO RGD:737399 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:34828430 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:863 nervous system disease ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:737399 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9001372 Immunodeficiency 114 ISO RGD:737399 D RGD:7240710 20231206 OMIM 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9001372 Immunodeficiency 114 ISO RGD:737399 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Immunodeficiency 114, folate-responsive PMID:36517554|PMID:36745868 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9002017 Folate-Responsive Megaloblastic Anemia ISO RGD:737399 D RGD:7240710 20210414 OMIM 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9002033 Knobloch Syndrome ISO RGD:737399 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:12415512|PMID:14695535|PMID:1554013|PMID:17546652|PMID:17576681|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:24033266|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:32860008|PMID:34828430|PMID:9536098 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:737399 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:34828430 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9002801 Recurrence ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17255265 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15705887 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9006205 Animal Disease Models ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16963246 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737399 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:15457444|PMID:15677700|PMID:17325736|PMID:18322994|PMID:19827168|PMID:22450926|PMID:22992668|PMID:25227144|PMID:26616421|PMID:27992285|PMID:28492532|PMID:31099054 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9263 homocystinuria ISO RGD:737399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9296 cleft lip ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9296 cleft lip susceptibility ISO RGD:737399 D RGD:9068941 20200609 RGD DNA:SNP: :80G>A (human) PMID:18797703|REF_RGD_ID:11565176 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737399 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8828174 Slc19a1 solute carrier family 19 member 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17255265 8828200 Stx19 syntaxin 19 gene DOID:0111003 Joubert syndrome 8 ISO RGD:1605776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 8828200 Stx19 syntaxin 19 gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1605776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 8828200 Stx19 syntaxin 19 gene DOID:2451 protein S deficiency ISO RGD:1605776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 8828200 Stx19 syntaxin 19 gene DOID:630 genetic disease ISO RGD:1605776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828229 Mrpl18 mitochondrial ribosomal protein L18 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1314973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8828229 Mrpl18 mitochondrial ribosomal protein L18 gene DOID:630 genetic disease ISO RGD:1314973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828251 E2f2 E2F transcription factor 2 gene DOID:0080600 COVID-19 ISO RGD:1348982 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8828251 E2f2 E2F transcription factor 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 8828251 E2f2 E2F transcription factor 2 gene DOID:630 genetic disease ISO RGD:1348982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828251 E2f2 E2F transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:1348982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 8828251 E2f2 E2F transcription factor 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1348982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8828251 E2f2 E2F transcription factor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1616520 D RGD:9068941 20200609 RGD E2f1/E2f2 double knockout PMID:15146237|REF_RGD_ID:1300306 8828266 Pld3 phospholipase D family member 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:32376792 8828266 Pld3 phospholipase D family member 3 gene DOID:0080288 spinocerebellar ataxia 46 ISO RGD:1317914 D RGD:7240710 20190315 OMIM 8828266 Pld3 phospholipase D family member 3 gene DOID:0080288 spinocerebellar ataxia 46 ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 46 PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:29053796|PMID:32376792|PMID:8595484 8828266 Pld3 phospholipase D family member 3 gene DOID:0080600 COVID-19 ISO RGD:1317914 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8828266 Pld3 phospholipase D family member 3 gene DOID:0110051 Alzheimer's disease 19 ISO RGD:1317914 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Alzheimer disease 19 PMID:24336208|PMID:25832408|PMID:25832410|PMID:25832411|PMID:25832412|PMID:28492532 8828266 Pld3 phospholipase D family member 3 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317914 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8828266 Pld3 phospholipase D family member 3 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15197604|PMID:15469949|PMID:16770524|PMID:22847150|PMID:24011642|PMID:25741868|PMID:26059842|PMID:28492532|PMID:32376792 8828266 Pld3 phospholipase D family member 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8828266 Pld3 phospholipase D family member 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8828266 Pld3 phospholipase D family member 3 gene DOID:2340 craniosynostosis ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8828266 Pld3 phospholipase D family member 3 gene DOID:630 genetic disease ISO RGD:1317914 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8828266 Pld3 phospholipase D family member 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8828266 Pld3 phospholipase D family member 3 gene DOID:9269 maple syrup urine disease ISO RGD:1317914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8828266 Pld3 phospholipase D family member 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317914 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8828295 Rad51c RAD51 paralog C gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350974 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8828295 Rad51c RAD51 paralog C gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1350974 D RGD:7240710 20240308 OMIM 8828295 Rad51c RAD51 paralog C gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1350974 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition PMID:122156|PMID:1241858|PMID:12442171|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:19763152|PMID:20052722|PMID:20307669|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22406018|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29020732|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30680046|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33047316|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:5806449|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:10534 stomach cancer ISO RGD:1350974 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:122156|PMID:12966089|PMID:16199547|PMID:17576681|PMID:20400964|PMID:21616938|PMID:21990120|PMID:22725699|PMID:24800917|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26270727|PMID:26467025|PMID:26720728|PMID:26824983|PMID:27433846|PMID:27913932|PMID:28492532|PMID:28802053|PMID:29278735|PMID:29566657|PMID:30093976|PMID:30322717|PMID:30875412|PMID:30927251|PMID:31300551|PMID:31815095|PMID:32107557|PMID:32980694|PMID:33008098|PMID:33333735|PMID:33471991|PMID:33563768|PMID:35014770|PMID:35806449|PMID:36988593|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:10907 microcephaly ISO RGD:1350974 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:32566746|PMID:32980694|PMID:33309985 8828295 Rad51c RAD51 paralog C gene DOID:13636 Fanconi anemia ISO RGD:1350974 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24504028|PMID:25085752|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26740214|PMID:27153395|PMID:28492532|PMID:32606146 8828295 Rad51c RAD51 paralog C gene DOID:1520 colon carcinoma ISO RGD:1350974 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:16199547|PMID:20400964|PMID:21537932|PMID:21990120|PMID:22538716|PMID:23117857|PMID:24800917|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26740214|PMID:28492532|PMID:29641532|PMID:30309722|PMID:30924587|PMID:30949688|PMID:33471991|PMID:36099300|PMID:36293153 8828295 Rad51c RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23149936|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:31874108|PMID:32659497|PMID:32885271|PMID:33471991|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:31874108|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:35565380|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:1612 breast cancer ISO RGD:1350974 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24082139|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25292178|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27149507|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28829762|PMID:29278735|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29785153|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30949688|PMID:31874108|PMID:32068069|PMID:32606146|PMID:32659497|PMID:32885271|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34326862|PMID:35039523|PMID:35565380|PMID:36099300|PMID:36562461|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:2394 ovarian cancer ISO RGD:1350974 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:20400964|PMID:21537932|PMID:21597919|PMID:21980511|PMID:22167183|PMID:23117857|PMID:25085752|PMID:25186627|PMID:25292178|PMID:25338684|PMID:25470109|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27443514|PMID:28492532|PMID:28864920|PMID:29158291|PMID:29263802|PMID:29641532|PMID:30093976|PMID:30982232|PMID:31567591|PMID:32068069|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34284872|PMID:34426522|PMID:35039523|PMID:36099300|PMID:36562461|PMID:37253112 8828295 Rad51c RAD51 paralog C gene DOID:2871 endometrial carcinoma ISO RGD:1350974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:20400964|PMID:21990120|PMID:24800917|PMID:25741868|PMID:26681312|PMID:26687385|PMID:26822949|PMID:28492532|PMID:32295079 8828295 Rad51c RAD51 paralog C gene DOID:3459 breast carcinoma ISO RGD:1350974 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:20400964|PMID:21990120|PMID:22538716|PMID:22725699|PMID:23117857|PMID:24240112|PMID:24800917|PMID:25086635|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740214|PMID:26976419|PMID:27433846|PMID:27913932|PMID:28492532|PMID:28588062|PMID:29278735|PMID:30322717|PMID:30847381|PMID:30949688|PMID:31300551|PMID:32658311|PMID:33008098|PMID:33077847|PMID:33471991|PMID:36988593 8828295 Rad51c RAD51 paralog C gene DOID:5426 primary ovarian insufficiency ISO RGD:1350974 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:21537932|PMID:22476429|PMID:22538716|PMID:23117857|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26467025|PMID:26740214|PMID:28492532|PMID:29641532|PMID:30309722|PMID:30924587|PMID:33471991|PMID:36099300|PMID:36293153 8828295 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:7240710 20240308 OMIM 8828295 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33134171|PMID:33471991|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33333735|PMID:33471991|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:34426522|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30651582|PMID:30772928|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31472684|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33134171|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:34426522|PMID:35806449|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36988593|PMID:37253112|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12966089|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36977404|PMID:36988593|PMID:37253112|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350974 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:122156|PMID:1241858|PMID:12966089|PMID:14704354|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23438602|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24359560|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28649662|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28975465|PMID:29053726|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30515680|PMID:30551670|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30772928|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30979843|PMID:30982232|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31472684|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32090079|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33832919|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:5806449|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:630 genetic disease ISO RGD:1350974 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32980694|PMID:33471991 8828295 Rad51c RAD51 paralog C gene DOID:6901 familiar ovarian carcinoma ISO RGD:1350974 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial ovarian carcinoma PMID:25741868|PMID:33832919 8828295 Rad51c RAD51 paralog C gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350974 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:16199547|PMID:20400963|PMID:20400964|PMID:21616938|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22538716|PMID:23117857|PMID:23176254|PMID:24139550|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25086635|PMID:25452441|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26354865|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26848151|PMID:27230542|PMID:27433846|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28767289|PMID:28802053|PMID:28905878|PMID:29053726|PMID:29255180|PMID:29278735|PMID:29416752|PMID:29522266|PMID:29625052|PMID:29758562|PMID:29922827|PMID:30216591|PMID:30306255|PMID:30426508|PMID:30927251|PMID:31874108|PMID:32295079|PMID:32359370|PMID:32659497|PMID:32854451|PMID:32885271|PMID:33333735|PMID:33471991|PMID:35039523|PMID:36099300 8828295 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23149936|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30924587|PMID:30927251|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31742824|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32885271|PMID:32957588|PMID:33471991|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30924587|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34426522|PMID:35806449|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12966089|PMID:15170666|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30924587|PMID:30949688|PMID:31159747|PMID:31173646|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31742824|PMID:31782267|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33258288|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33858678|PMID:34426522|PMID:35806449|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:33011440|PMID:33077847|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:33011440|PMID:33077847|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36988593|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36562461|PMID:36988593|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:12442171|PMID:12853621|PMID:12966089|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33326660|PMID:33333735|PMID:33471991|PMID:33552952|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34426522|PMID:34570441|PMID:34606182|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36562461|PMID:36988593|PMID:37253112|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350974 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:122156|PMID:1241858|PMID:12442171|PMID:12853621|PMID:12966089|PMID:14704354|PMID:15126333|PMID:15170666|PMID:15336628|PMID:16199547|PMID:1731253|PMID:17576681|PMID:18203022|PMID:20052722|PMID:20400963|PMID:20400964|PMID:20428093|PMID:20697805|PMID:20723205|PMID:20952512|PMID:21447597|PMID:21537932|PMID:2159791|PMID:21597919|PMID:21616938|PMID:21750962|PMID:21980511|PMID:21990120|PMID:22006311|PMID:22167183|PMID:22370629|PMID:22451500|PMID:22476429|PMID:22538716|PMID:22725699|PMID:23117857|PMID:23176254|PMID:23500037|PMID:23704328|PMID:24082139|PMID:24139550|PMID:24141787|PMID:24240112|PMID:24315737|PMID:24504028|PMID:24549055|PMID:24631219|PMID:24763404|PMID:24800917|PMID:24993905|PMID:24998779|PMID:25085752|PMID:25086635|PMID:25154786|PMID:25186627|PMID:25292178|PMID:25318351|PMID:25338684|PMID:25452441|PMID:25470109|PMID:25525159|PMID:25741868|PMID:25833843|PMID:25980754|PMID:26057125|PMID:26103414|PMID:26261251|PMID:26270727|PMID:26354865|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26740214|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26848151|PMID:26911350|PMID:26976419|PMID:27037238|PMID:27149507|PMID:27149842|PMID:27153395|PMID:27230542|PMID:27328445|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27622768|PMID:27852271|PMID:27878467|PMID:27908594|PMID:27913932|PMID:27978560|PMID:28123851|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28281021|PMID:28492532|PMID:28528518|PMID:28588062|PMID:28678401|PMID:28709830|PMID:28726808|PMID:28767289|PMID:28802053|PMID:28829762|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28905878|PMID:29053726|PMID:29054568|PMID:29158291|PMID:29255180|PMID:29263802|PMID:2927873|PMID:29278735|PMID:29360161|PMID:29409816|PMID:29416752|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29858219|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30256826|PMID:30257646|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30551670|PMID:30613976|PMID:30847381|PMID:30875412|PMID:30924587|PMID:30927251|PMID:30949688|PMID:30982232|PMID:30995915|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31300551|PMID:31422574|PMID:31446535|PMID:31567591|PMID:31642931|PMID:31742824|PMID:31782267|PMID:31815095|PMID:31843900|PMID:31874108|PMID:31882575|PMID:31921681|PMID:32054657|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32359370|PMID:32398771|PMID:32427313|PMID:32566746|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32809180|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33011440|PMID:33077847|PMID:33134171|PMID:33194656|PMID:33258288|PMID:33277227|PMID:33309985|PMID:33326660|PMID:33333735|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33563768|PMID:33606809|PMID:33646313|PMID:33858678|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34426522|PMID:34570441|PMID:34606182|PMID:34923718|PMID:35014770|PMID:35039523|PMID:35039564|PMID:35186721|PMID:35264596|PMID:35565380|PMID:35740625|PMID:35806449|PMID:36099300|PMID:36243179|PMID:36293153|PMID:36329109|PMID:36562461|PMID:36977404|PMID:36988593|PMID:37065479|PMID:37253112|PMID:5806449|PMID:9536098 8828295 Rad51c RAD51 paralog C gene DOID:9008939 Breast Neoplasms ISO RGD:1350974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20400964|PMID:28825726 8828295 Rad51c RAD51 paralog C gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350974 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20400964|PMID:21616938|PMID:21750962|PMID:21990120|PMID:22167183|PMID:22370629|PMID:22538716|PMID:22725699|PMID:24315737|PMID:24504028|PMID:24800917|PMID:24993905|PMID:25085752|PMID:25292178|PMID:25470109|PMID:25741868|PMID:26261251|PMID:26406419|PMID:26467025|PMID:26483394|PMID:26740214|PMID:26976419|PMID:27153395|PMID:27443514|PMID:27621404|PMID:27622768|PMID:27878467|PMID:27978560|PMID:28492532|PMID:28678401|PMID:28829762|PMID:29458332|PMID:29785153|PMID:30374176 8828295 Rad51c RAD51 paralog C gene DOID:9460 uterine corpus cancer ISO RGD:1350974 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:12966089|PMID:17576681|PMID:22538716|PMID:24139550|PMID:25085752|PMID:25741868|PMID:26057125|PMID:26467025|PMID:26681312|PMID:27616075|PMID:27621404|PMID:28492532|PMID:28905878|PMID:29255180|PMID:29978187|PMID:30086788|PMID:30257646|PMID:30374176|PMID:31843900|PMID:31882575|PMID:32295079|PMID:32854451|PMID:32957588|PMID:33333735|PMID:9536098 8828334 Fam117a family with sequence similarity 117 member A gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1604587 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8828334 Fam117a family with sequence similarity 117 member A gene DOID:630 genetic disease ISO RGD:1604587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828379 Pbrm1 polybromo 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1605656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8828379 Pbrm1 polybromo 1 gene DOID:3275 thymoma ISO RGD:1605656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 8828379 Pbrm1 polybromo 1 gene DOID:3495 extrahepatic bile duct adenocarcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:25536104|REF_RGD_ID:150340631 8828379 Pbrm1 polybromo 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:32195359|REF_RGD_ID:150340625 8828379 Pbrm1 polybromo 1 gene DOID:4450 renal cell carcinoma ISO RGD:1605656 D RGD:7240710 20210707 OMIM 8828379 Pbrm1 polybromo 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1605656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:25911086 8828379 Pbrm1 polybromo 1 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:27864835|REF_RGD_ID:150340628 8828379 Pbrm1 polybromo 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 8828379 Pbrm1 polybromo 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1605656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509 8828379 Pbrm1 polybromo 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:29748005|REF_RGD_ID:127285383 8828379 Pbrm1 polybromo 1 gene DOID:8778 Crohn's disease ISO RGD:1605656 D RGD:9068941 20210827 RGD mRNA:decreased expression:colon PMID:28940253|REF_RGD_ID:150340627 8828379 Pbrm1 polybromo 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1565549 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:heart left ventricle PMID:23702776|REF_RGD_ID:9586349 8828379 Pbrm1 polybromo 1 gene DOID:9256 colorectal cancer severity ISO RGD:1605656 D RGD:9068941 20210827 RGD PMID:28940253|REF_RGD_ID:150340627 8828467 Ngrn neugrin, neurite outgrowth associated gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8828467 Ngrn neugrin, neurite outgrowth associated gene DOID:2717 Bloom syndrome ISO RGD:1605389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8828467 Ngrn neugrin, neurite outgrowth associated gene DOID:630 genetic disease ISO RGD:1605389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828467 Ngrn neugrin, neurite outgrowth associated gene DOID:9256 colorectal cancer ISO RGD:1605389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8828474 Peli2 pellino E3 ubiquitin protein ligase family member 2 gene DOID:630 genetic disease ISO RGD:1353013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828491 Znf784 zinc finger protein 784 gene DOID:630 genetic disease ISO RGD:1602066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828498 Slc25a16 solute carrier family 25 member 16 gene DOID:0080683 nonsyndromic congenital nail disorder ISO RGD:1322697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital PMID:28504827 8828498 Slc25a16 solute carrier family 25 member 16 gene DOID:630 genetic disease ISO RGD:1322697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828498 Slc25a16 solute carrier family 25 member 16 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1322697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 8828511 Stx1a syntaxin 1A gene DOID:0060041 autism spectrum disorder ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8828511 Stx1a syntaxin 1A gene DOID:10487 Hirschsprung's disease ISO RGD:69485 D RGD:9068941 20200609 RGD PMID:11345516|REF_RGD_ID:1581432 8828511 Stx1a syntaxin 1A gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:69485 D RGD:9068941 20200609 RGD PMID:10842016|REF_RGD_ID:1581434 8828511 Stx1a syntaxin 1A gene DOID:12849 autistic disorder ISO RGD:69485 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 8828511 Stx1a syntaxin 1A gene DOID:150 disease of mental health ISO RGD:69486 D RGD:9068941 20220825 MouseDO 8828511 Stx1a syntaxin 1A gene DOID:1826 epilepsy ISO RGD:69485 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8828511 Stx1a syntaxin 1A gene DOID:1928 Williams-Beuren syndrome ISO RGD:69485 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8828511 Stx1a syntaxin 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8828511 Stx1a syntaxin 1A gene DOID:5419 schizophrenia ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8828511 Stx1a syntaxin 1A gene DOID:630 genetic disease ISO RGD:69485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828511 Stx1a syntaxin 1A gene DOID:8445 intestinal volvulus ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8828511 Stx1a syntaxin 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8828511 Stx1a syntaxin 1A gene DOID:9008419 Volvulus Of Midgut ISO RGD:69485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8828538 Vstm2a V-set and transmembrane domain containing 2A gene DOID:12849 autistic disorder ISO RGD:1604199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8828538 Vstm2a V-set and transmembrane domain containing 2A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8828538 Vstm2a V-set and transmembrane domain containing 2A gene DOID:630 genetic disease ISO RGD:1604199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828575 Phf11 PHD finger protein 11 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1321995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8828575 Phf11 PHD finger protein 11 gene DOID:1059 intellectual disability ISO RGD:1321995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8828575 Phf11 PHD finger protein 11 gene DOID:630 genetic disease ISO RGD:1321995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828591 Calr3 calreticulin 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:17655857|PMID:23861362|PMID:28492532 8828591 Calr3 calreticulin 3 gene DOID:0050700 cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 8828591 Calr3 calreticulin 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 8828591 Calr3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29988065|PMID:31513939|PMID:9536098 8828591 Calr3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:9536098 8828591 Calr3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:9536098 8828591 Calr3 calreticulin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:17576681|PMID:17655857|PMID:23861362|PMID:25163546|PMID:25640679|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29988065|PMID:30847666|PMID:31513939|PMID:34127479|PMID:9536098 8828591 Calr3 calreticulin 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17655857|PMID:23861362|PMID:25741868|PMID:28492532|PMID:31513939 8828591 Calr3 calreticulin 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:29988065 8828591 Calr3 calreticulin 3 gene DOID:630 genetic disease ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8828591 Calr3 calreticulin 3 gene DOID:9001172 FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 ISO RGD:1319475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29988065|PMID:30847666 8828615 Slc38a3 solute carrier family 38 member 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8828615 Slc38a3 solute carrier family 38 member 3 gene DOID:0050758 metabolic acidosis treatment ISO RGD:628620 D RGD:9068941 20200609 RGD PMID:16954343|REF_RGD_ID:9999224 8828615 Slc38a3 solute carrier family 38 member 3 gene DOID:0070388 developmental and epileptic encephalopathy 102 ISO RGD:730997 D RGD:7240710 20220608 OMIM 8828615 Slc38a3 solute carrier family 38 member 3 gene DOID:0070388 developmental and epileptic encephalopathy 102 ISO RGD:730997 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 102 PMID:25741868|PMID:31130284|PMID:34605855 8828615 Slc38a3 solute carrier family 38 member 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8828615 Slc38a3 solute carrier family 38 member 3 gene DOID:11832 visual epilepsy ISO RGD:628620 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:21138736|REF_RGD_ID:9999229 8828615 Slc38a3 solute carrier family 38 member 3 gene DOID:630 genetic disease ISO RGD:730997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828615 Slc38a3 solute carrier family 38 member 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8828615 Slc38a3 solute carrier family 38 member 3 gene DOID:9005930 Endotoxemia ISO RGD:628620 D RGD:9068941 20200609 RGD PMID:20036385|REF_RGD_ID:9999227 8828615 Slc38a3 solute carrier family 38 member 3 gene DOID:9007661 Dwarfism ISO RGD:730997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8828615 Slc38a3 solute carrier family 38 member 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:730997 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8828646 Znf143 zinc finger protein 143 gene DOID:630 genetic disease ISO RGD:1313824 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8828677 Cimap1a ciliary microtubule associated protein 1A gene DOID:630 genetic disease ISO RGD:1320693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828688 Slc2a8 solute carrier family 2 member 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8828688 Slc2a8 solute carrier family 2 member 8 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:730862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8828688 Slc2a8 solute carrier family 2 member 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8828688 Slc2a8 solute carrier family 2 member 8 gene DOID:630 genetic disease ISO RGD:730862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828720 Rbm11 RNA binding motif protein 11 gene DOID:10652 Alzheimer's disease ISO RGD:1313079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8828720 Rbm11 RNA binding motif protein 11 gene DOID:630 genetic disease ISO RGD:1313079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828720 Rbm11 RNA binding motif protein 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8828745 Gulp1 GULP PTB domain containing engulfment adaptor 1 gene DOID:50 thyroid gland disease ISO RGD:1314963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 8828745 Gulp1 GULP PTB domain containing engulfment adaptor 1 gene DOID:630 genetic disease ISO RGD:1314963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828745 Gulp1 GULP PTB domain containing engulfment adaptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8828745 Gulp1 GULP PTB domain containing engulfment adaptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8828772 Tmem70 transmembrane protein 70 gene DOID:0050700 cardiomyopathy ISO RGD:1603032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18953340 8828772 Tmem70 transmembrane protein 70 gene DOID:0050868 hepatocellular adenoma ISO RGD:1603032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 8828772 Tmem70 transmembrane protein 70 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1603032 D RGD:7240710 20180130 OMIM 8828772 Tmem70 transmembrane protein 70 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1603032 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | ClinVar Annotator: match by term: Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 PMID:16199547|PMID:17576681|PMID:1895334|PMID:18953340|PMID:20335238|PMID:20728387|PMID:20920610|PMID:20937241|PMID:21147908|PMID:21815885|PMID:21945727|PMID:22433607|PMID:22986587|PMID:24033266|PMID:24485043|PMID:24740313|PMID:25326274|PMID:25741868|PMID:25825456|PMID:26467025|PMID:26550569|PMID:28492532|PMID:30724636|PMID:30950220|PMID:9536098 8828772 Tmem70 transmembrane protein 70 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1603032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 8828772 Tmem70 transmembrane protein 70 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1603032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532 8828772 Tmem70 transmembrane protein 70 gene DOID:0111143 mitochondrial complex V (ATP synthase) deficiency ISO RGD:1603032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type PMID:18953340|PMID:20335238|PMID:20920610|PMID:21147908|PMID:24033266|PMID:24485043|PMID:25326274|PMID:25741868|PMID:28492532 8828772 Tmem70 transmembrane protein 70 gene DOID:630 genetic disease ISO RGD:1603032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18953340|PMID:21147908|PMID:24740313|PMID:25741868|PMID:28492532 8828772 Tmem70 transmembrane protein 70 gene DOID:684 hepatocellular carcinoma ISO RGD:1603032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 8828772 Tmem70 transmembrane protein 70 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1603032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18953340 8828772 Tmem70 transmembrane protein 70 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603032 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17576681|PMID:1895334|PMID:18953340|PMID:20920610|PMID:20937241|PMID:21815885|PMID:22433607|PMID:22986587|PMID:24485043|PMID:25741868|PMID:26467025|PMID:26550569|PMID:28492532|PMID:9536098 8828778 Fbxo2 F-box protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8828778 Fbxo2 F-box protein 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732900 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8828778 Fbxo2 F-box protein 2 gene DOID:630 genetic disease ISO RGD:732900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828778 Fbxo2 F-box protein 2 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:732900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8828792 Ttc32 tetratricopeptide repeat domain 32 gene DOID:630 genetic disease ISO RGD:1605580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828800 Gata5 GATA binding protein 5 gene DOID:0050650 familial atrial fibrillation ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:mutations:cds: c.413A>T(p.Y138F), c.628T>G (p.C210G)(human) PMID:23295592|REF_RGD_ID:155260349 8828800 Gata5 GATA binding protein 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8828800 Gata5 GATA binding protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:mutation:cds:c.598T>G (p.W200G)(human) PMID:23175127|REF_RGD_ID:155260351 8828800 Gata5 GATA binding protein 5 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:mutations:cds:c.46T>G (p.Y16D), c.754A>C ((p.T252P)(human) PMID:24638895|REF_RGD_ID:155260354 8828800 Gata5 GATA binding protein 5 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1558341 D RGD:9068941 20230427 RGD PMID:22536403|REF_RGD_ID:329337340 8828800 Gata5 GATA binding protein 5 gene DOID:0080332 bicuspid aortic valve disease exacerbates ISO RGD:1558341 D RGD:9068941 20221006 RGD PMID:21633169|REF_RGD_ID:155260352 8828800 Gata5 GATA binding protein 5 gene DOID:0080333 aortic valve disease 1 ISO RGD:1354270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:28387797|PMID:28492532|PMID:30675029 8828800 Gata5 GATA binding protein 5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1354270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8828800 Gata5 GATA binding protein 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354270 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8828800 Gata5 GATA binding protein 5 gene DOID:10763 hypertension susceptibility ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:SNPs:intron, exon:rs6061245,rs6587239 (human) PMID:26617239|REF_RGD_ID:11343485 8828800 Gata5 GATA binding protein 5 gene DOID:10825 essential hypertension ISO RGD:1558341 D RGD:9068941 20220825 MouseDO OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 8828800 Gata5 GATA binding protein 5 gene DOID:10825 essential hypertension ISO RGD:1558341 D RGD:9068941 20221006 RGD PMID:26617239|REF_RGD_ID:11343485 8828800 Gata5 GATA binding protein 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:mutation:cds;c.719G>A(p.Gly240Asp)(human) PMID:25543888|REF_RGD_ID:155260333 8828800 Gata5 GATA binding protein 5 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1354270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:22641149|PMID:28492532 8828800 Gata5 GATA binding protein 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1354270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8828800 Gata5 GATA binding protein 5 gene DOID:1657 ventricular septal defect ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:mutation:cds:c.595C>G (p.L199V)(human) PMID:22961344|REF_RGD_ID:155260356 8828800 Gata5 GATA binding protein 5 gene DOID:1657 ventricular septal defect ISO RGD:1558341 D RGD:9068941 20230427 RGD PMID:22536403|REF_RGD_ID:329337340 8828800 Gata5 GATA binding protein 5 gene DOID:630 genetic disease ISO RGD:1354270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22641149|PMID:23040494|PMID:25741868|PMID:27066509|PMID:28180938|PMID:28492532 8828800 Gata5 GATA binding protein 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) PMID:23289003|REF_RGD_ID:155260350 8828800 Gata5 GATA binding protein 5 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1354270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:28492532 8828800 Gata5 GATA binding protein 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354270 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19509152 8828800 Gata5 GATA binding protein 5 gene DOID:9009140 Congenital Heart Defects, Multiple Types, 5 ISO RGD:1354270 D RGD:7240710 20190612 OMIM 8828800 Gata5 GATA binding protein 5 gene DOID:9009140 Congenital Heart Defects, Multiple Types, 5 ISO RGD:1354270 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 5 | ClinVar Annotator: match by term: GATA5-related condition PMID:22641149|PMID:22961344|PMID:23031282|PMID:23040494|PMID:23175127|PMID:24638895|PMID:25741868|PMID:27066509|PMID:28180938|PMID:28492532 8828800 Gata5 GATA binding protein 5 gene DOID:9408 acute myocardial infarction susceptibility ISO RGD:1354270 D RGD:9068941 20221006 RGD DNA:SNPs:promoter:rs80197101, rs77067995 (human) PMID:33684162|REF_RGD_ID:155260335 8828809 Pik3r4 phosphoinositide-3-kinase regulatory subunit 4 gene DOID:0111947 immunodeficiency 21 ISO RGD:1323457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8828809 Pik3r4 phosphoinositide-3-kinase regulatory subunit 4 gene DOID:630 genetic disease ISO RGD:1323457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828809 Pik3r4 phosphoinositide-3-kinase regulatory subunit 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1323457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 8828809 Pik3r4 phosphoinositide-3-kinase regulatory subunit 4 gene DOID:9270 alkaptonuria ISO RGD:1323457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:0050855 renal fibrosis ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:18809736|REF_RGD_ID:7241554 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:0070355 overactive bladder syndrome ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:15576455|REF_RGD_ID:1625040 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:10247 pleurisy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:11853231|REF_RGD_ID:5129218 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:10763 hypertension ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12025958|PMID:17988733|REF_RGD_ID:5129214|REF_RGD_ID:704378 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:10763 hypertension ISO RGD:730874 D RGD:9068941 20200609 RGD DNA:polymorphisms:CDS:in American-Caucasians,T allele of SNP8, C allele of SNP12, T allele of SNP13 PMID:15643125|REF_RGD_ID:1625732 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:10952 nephritis ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:18809736|REF_RGD_ID:7241554 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:11446 sciatic neuropathy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:18182225|REF_RGD_ID:5129227 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:11713 diabetic angiopathy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:15878326|REF_RGD_ID:7241570 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:21412216|REF_RGD_ID:7175321 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:1826 epilepsy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12746865|REF_RGD_ID:704381 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:2224 essential thrombocythemia ISO RGD:730874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:2921 glomerulonephritis ISO RGD:730874 D RGD:9068941 20200609 RGD PMID:20448019|REF_RGD_ID:7241551 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:2921 glomerulonephritis ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:20448019|REF_RGD_ID:7241551 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:3328 temporal lobe epilepsy ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15196965 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:3770 pulmonary fibrosis ISO RGD:730874 D RGD:9068941 20200609 RGD PMID:20451601|REF_RGD_ID:5129229 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:4483 rhinitis ISO RGD:730874 D RGD:9068941 20200609 RGD PMID:12165532|REF_RGD_ID:5129220 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:4971 myelofibrosis ISO RGD:730874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:5844 myocardial infarction ISO RGD:620401 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:630 genetic disease ISO RGD:730874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:783 end stage renal disease ISO RGD:730874 D RGD:9068941 20200609 RGD PMID:10604543|REF_RGD_ID:7241582 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:783 end stage renal disease no_association ISO RGD:730874 D RGD:9068941 20200609 RGD DNA: SNP: G(-699)C PMID:10809796|REF_RGD_ID:7241561 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:783 end stage renal disease resistance ISO RGD:730874 D RGD:9068941 20200609 RGD DNA: SNP: G-699-->C PMID:9555662|REF_RGD_ID:7241560 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:620401 D RGD:9068941 20200716 RGD associated with Diabetes Mellitus, Experimental PMID:18311190|REF_RGD_ID:2313334 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9000197 Edema severity ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12411434|REF_RGD_ID:628496 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9000352 Vascular System Injuries ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982965 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9000641 Pain ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:17988733|REF_RGD_ID:5129214 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9000641 Pain ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9000784 Fibrosis ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:15253105|REF_RGD_ID:1625759 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9002211 Hyperalgesia ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12927641|REF_RGD_ID:1579989 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9002211 Hyperalgesia ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989505|PMID:19300402|PMID:19815945 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9002211 Hyperalgesia ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:12637034|REF_RGD_ID:7241581 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9002457 Experimental Arthritis ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:15001555|REF_RGD_ID:1625760 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9002661 Diabetes Complications ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:20479236|REF_RGD_ID:7241550 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9002720 Splenomegaly ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20096676 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620401 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9005372 Inflammation ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20152050 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:12522068|REF_RGD_ID:704380 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620401 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12489796|REF_RGD_ID:704379 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21430409 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:20092893|REF_RGD_ID:7241569 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:731358 D RGD:9068941 20200609 RGD PMID:18725957|REF_RGD_ID:7241559 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9007692 Insulin Resistance ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:17618300|PMID:17988733|REF_RGD_ID:5129214|REF_RGD_ID:5129217 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9008887 Microvascular Angina ISO RGD:730874 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:17852785|REF_RGD_ID:4890450 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9119 acute myeloid leukemia ISO RGD:730874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9743 diabetic neuropathy ISO RGD:620401 D RGD:9068941 20200609 RGD PMID:20587056|REF_RGD_ID:5129222 8828839 Bdkrb1 bradykinin receptor B1 gene DOID:9970 obesity ISO RGD:731358 D RGD:9068941 20200609 RGD ob/ob mice mRNA:decreased expression:brown adipose tissue, heart mRNA:increased expression:white adipose tissue, hypothalamus PMID:17184856|REF_RGD_ID:1625733 8828854 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1354312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young 8828854 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:2843 long QT syndrome ISO RGD:1354312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8828854 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:5419 schizophrenia ISO RGD:1354312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8828854 Edem2 ER degradation enhancing alpha-mannosidase like protein 2 gene DOID:630 genetic disease ISO RGD:1354312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828872 Noxa1 NADPH oxidase activator 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8828872 Noxa1 NADPH oxidase activator 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1315446 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8828872 Noxa1 NADPH oxidase activator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8828872 Noxa1 NADPH oxidase activator 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1315446 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8828872 Noxa1 NADPH oxidase activator 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8828872 Noxa1 NADPH oxidase activator 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315446 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8828872 Noxa1 NADPH oxidase activator 1 gene DOID:1826 epilepsy ISO RGD:1315446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8828872 Noxa1 NADPH oxidase activator 1 gene DOID:630 genetic disease ISO RGD:1315446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828872 Noxa1 NADPH oxidase activator 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1315446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8828891 Acan aggrecan gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:68507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8828891 Acan aggrecan gene DOID:0112282 spondyloepiphyseal dysplasia Kimberley type ISO RGD:68507 D RGD:7240710 20180130 OMIM 8828891 Acan aggrecan gene DOID:0112282 spondyloepiphyseal dysplasia Kimberley type ISO RGD:68507 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Kimberley type PMID:16080123|PMID:25741868|PMID:28492532 8828891 Acan aggrecan gene DOID:10316 pneumoconiosis ISO RGD:68507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 8828891 Acan aggrecan gene DOID:10584 retinitis pigmentosa treatment ISO RGD:735902 D RGD:9068941 20200609 RGD PMID:25646031|REF_RGD_ID:11570529 8828891 Acan aggrecan gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:68507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 8828891 Acan aggrecan gene DOID:1824 status epilepticus ISO RGD:68358 D RGD:9068941 20200609 RGD PMID:22934955|REF_RGD_ID:11570543 8828891 Acan aggrecan gene DOID:2256 osteochondrodysplasia ISO RGD:735902 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:7920633|REF_RGD_ID:11570525 8828891 Acan aggrecan gene DOID:2377 multiple sclerosis ISO RGD:68507 D RGD:9068941 20200609 RGD protein:altered expression:central nervous system, plaque (human) PMID:11764092|REF_RGD_ID:2315836 8828891 Acan aggrecan gene DOID:2717 Bloom syndrome ISO RGD:68507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8828891 Acan aggrecan gene DOID:4480 achondroplasia ISO RGD:735902 D RGD:9068941 20220825 MouseDO OMIM:100800 8828891 Acan aggrecan gene DOID:6000 congestive heart failure ISO RGD:68358 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:24595230|REF_RGD_ID:11570548 8828891 Acan aggrecan gene DOID:630 genetic disease ISO RGD:68507 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25419514|PMID:25741868|PMID:27870580|PMID:28492532 8828891 Acan aggrecan gene DOID:7148 rheumatoid arthritis ISO RGD:68507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 8828891 Acan aggrecan gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:68507 D RGD:9068941 20200609 RGD protein:increased degradation:cartilage PMID:16507130|REF_RGD_ID:11570537 8828891 Acan aggrecan gene DOID:8398 osteoarthritis treatment ISO RGD:68358 D RGD:9068941 20200609 RGD PMID:21853458|REF_RGD_ID:11570544 8828891 Acan aggrecan gene DOID:8398 osteoarthritis treatment ISO RGD:735902 D RGD:9068941 20200609 RGD PMID:22833446|REF_RGD_ID:11570535 8828891 Acan aggrecan gene DOID:84 osteochondritis dissecans ISO RGD:68507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteochondritis dissecans PMID:16080123|PMID:20137779|PMID:24762113|PMID:25741868|PMID:27870580|PMID:28492532 8828891 Acan aggrecan gene DOID:90 degenerative disc disease ISO RGD:68358 D RGD:9068941 20200609 RGD mRNA:decreased expression:intervertebral disk PMID:24285589|REF_RGD_ID:11570539 8828891 Acan aggrecan gene DOID:90 degenerative disc disease treatment ISO RGD:68358 D RGD:9068941 20200609 RGD associated with Renal Insufficiency PMID:19063844|REF_RGD_ID:10043178 8828891 Acan aggrecan gene DOID:9000039 Spinal Cord Injuries ISO RGD:68358 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord (rat) PMID:14769391|REF_RGD_ID:2315837 8828891 Acan aggrecan gene DOID:9000998 Brain Injuries ISO RGD:68358 D RGD:9068941 20200609 RGD mRNA:increased expression:fascia dentata (rat) PMID:18511192|REF_RGD_ID:2315807 8828891 Acan aggrecan gene DOID:9001088 Spondyloepimetaphyseal Dysplasia, Aggrecan Type ISO RGD:68507 D RGD:7240710 20180130 OMIM 8828891 Acan aggrecan gene DOID:9001088 Spondyloepimetaphyseal Dysplasia, Aggrecan Type ISO RGD:68507 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, aggrecan type PMID:19110214|PMID:25741868|PMID:28492532|PMID:30124491 8828891 Acan aggrecan gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:68507 D RGD:7240710 20180130 OMIM 8828891 Acan aggrecan gene DOID:9001680 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS ISO RGD:68507 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Short stature and advanced bone age | ClinVar Annotator: match by term: Short stature and advanced bone age, with early-onset osteoarthritis | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome PMID:14216462|PMID:16080123|PMID:19110214|PMID:20137779|PMID:24762113|PMID:25741789|PMID:25741868|PMID:27710243|PMID:27870580|PMID:28331218|PMID:28492532|PMID:29769040|PMID:31841439|PMID:34922359|PMID:36714562 8828891 Acan aggrecan gene DOID:9002457 Experimental Arthritis treatment ISO RGD:68358 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 8828891 Acan aggrecan gene DOID:9006496 Lordosis ISO RGD:735902 D RGD:9068941 20200609 RGD PMID:9192671|REF_RGD_ID:1300269 8828891 Acan aggrecan gene DOID:9007096 Stroke treatment ISO RGD:68358 D RGD:9068941 20200609 RGD PMID:24664200|REF_RGD_ID:11570545 8828891 Acan aggrecan gene DOID:9007661 Dwarfism ISO RGD:68507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8828891 Acan aggrecan gene DOID:9008331 Tendon Injuries ISO RGD:68358 D RGD:9068941 20200609 RGD mRNA:increased expression:patellar ligament (rat) PMID:19955224|REF_RGD_ID:2315073 8828891 Acan aggrecan gene DOID:9256 colorectal cancer ISO RGD:68507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8828891 Acan aggrecan gene DOID:9277 primary cerebellar degeneration ISO RGD:735902 D RGD:9068941 20200609 RGD PMID:9192671|REF_RGD_ID:1300269 8828914 Nfib nuclear factor I B gene DOID:0060041 autism spectrum disorder ISO RGD:733820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8828914 Nfib nuclear factor I B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8828914 Nfib nuclear factor I B gene DOID:5419 schizophrenia ISO RGD:733820 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8828914 Nfib nuclear factor I B gene DOID:630 genetic disease ISO RGD:733820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8828914 Nfib nuclear factor I B gene DOID:9002787 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:733820 D RGD:7240710 20201216 OMIM 8828914 Nfib nuclear factor I B gene DOID:9002787 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:733820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly, acquired, with impaired intellectual development PMID:25741868|PMID:28492532|PMID:30388402 8828914 Nfib nuclear factor I B gene DOID:9003816 Macrocephaly ISO RGD:733820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:30388402 8828914 Nfib nuclear factor I B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733820 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8828914 Nfib nuclear factor I B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:30388402 8828936 Washc4 WASH complex subunit 4 gene DOID:0081207 autosomal recessive intellectual developmental disorder 43 ISO RGD:1603694 D RGD:7240710 20180130 OMIM 8828936 Washc4 WASH complex subunit 4 gene DOID:0081207 autosomal recessive intellectual developmental disorder 43 ISO RGD:1603694 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 43 PMID:21498477|PMID:25741868|PMID:28492532|PMID:31953988|PMID:34599609 8828936 Washc4 WASH complex subunit 4 gene DOID:630 genetic disease ISO RGD:1603694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8828936 Washc4 WASH complex subunit 4 gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1320642 D RGD:9068941 20220825 MouseDO OMIM:301000 8828973 Gtf2b general transcription factor IIB gene DOID:630 genetic disease ISO RGD:731364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828984 Fgf4 fibroblast growth factor 4 gene DOID:1059 intellectual disability ISO RGD:1343486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8828984 Fgf4 fibroblast growth factor 4 gene DOID:630 genetic disease ISO RGD:1343486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8828984 Fgf4 fibroblast growth factor 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1343486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25822088 8828984 Fgf4 fibroblast growth factor 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1343486 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8828984 Fgf4 fibroblast growth factor 4 gene DOID:9004883 Pilonidal Sinus ISO RGD:12382382 D RGD:9068941 20231123 OMIA Dermoid sinus PMID:10713979|PMID:11002937|PMID:1481220|PMID:15736812|PMID:16573760|PMID:17422670|PMID:17906623|PMID:17906626|PMID:18704695|PMID:24593884|PMID:256350|PMID:26401330|PMID:2642687|PMID:33025601|PMID:35067986|PMID:35150843|PMID:37965842|PMID:4919487|PMID:5951011|PMID:7603060 8828984 Fgf4 fibroblast growth factor 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1343486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8828984 Fgf4 fibroblast growth factor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1343486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21936542 8829005 Rnf7 ring finger protein 7 gene DOID:630 genetic disease ISO RGD:1322298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829011 Psmd6 proteasome 26S subunit, non-ATPase 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1351950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8829011 Psmd6 proteasome 26S subunit, non-ATPase 6 gene DOID:630 genetic disease ISO RGD:1351950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829011 Psmd6 proteasome 26S subunit, non-ATPase 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 8829052 Lmtk3 lemur tyrosine kinase 3 gene DOID:1826 epilepsy ISO RGD:1351306 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8829052 Lmtk3 lemur tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:1351306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829073 Prdx2 peroxiredoxin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733019 D RGD:9068941 20220908 RGD protein:increased expression:saliva PMID:29199150|REF_RGD_ID:153350131 8829073 Prdx2 peroxiredoxin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:733019 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8829073 Prdx2 peroxiredoxin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:733019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8829073 Prdx2 peroxiredoxin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:733019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8829073 Prdx2 peroxiredoxin 2 gene DOID:10320 asbestosis ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22537621 8829073 Prdx2 peroxiredoxin 2 gene DOID:14250 Down syndrome ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11771762 8829073 Prdx2 peroxiredoxin 2 gene DOID:1909 melanoma ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8829073 Prdx2 peroxiredoxin 2 gene DOID:305 carcinoma ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8829073 Prdx2 peroxiredoxin 2 gene DOID:3347 osteosarcoma ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23911960 8829073 Prdx2 peroxiredoxin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:733019 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8829073 Prdx2 peroxiredoxin 2 gene DOID:630 genetic disease ISO RGD:733019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829073 Prdx2 peroxiredoxin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8829073 Prdx2 peroxiredoxin 2 gene DOID:8692 myeloid leukemia ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16932348 8829073 Prdx2 peroxiredoxin 2 gene DOID:9000058 Keloid ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8829073 Prdx2 peroxiredoxin 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8829073 Prdx2 peroxiredoxin 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8829073 Prdx2 peroxiredoxin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 8829073 Prdx2 peroxiredoxin 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23911960 8829073 Prdx2 peroxiredoxin 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8829073 Prdx2 peroxiredoxin 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:733019 D RGD:9068941 20220909 RGD PMID:23393224|REF_RGD_ID:153350137 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050451 Brugada syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050700 cardiomyopathy ISO RGD:732576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:20817017|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:27711072|PMID:28492532 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050700 cardiomyopathy ISO RGD:732576 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:20817017|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25650408|PMID:25741868|PMID:27711072|PMID:28492532 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0050793 short QT syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short QT Syndrome 5 PMID:25741868|PMID:28492532 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0060319 cardiac arrest ISO RGD:732576 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:17576681|PMID:25741868|PMID:28492532|PMID:28600387|PMID:9536098 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0110221 Brugada syndrome 4 ISO RGD:732576 D RGD:7240710 20180130 OMIM 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:0110221 Brugada syndrome 4 ISO RGD:732576 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 | ClinVar Annotator: match by term: CACNB2-related condition PMID:17224476|PMID:17576681|PMID:19358333|PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25650408|PMID:25741868|PMID:26220970|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27662471|PMID:27711072|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28704380|PMID:29016939|PMID:30027834|PMID:30415094|PMID:30847666|PMID:30975432|PMID:9536098 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:10273 heart conduction disease ISO RGD:732576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction system disorder 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:10763 hypertension susceptibility ISO RGD:732576 D RGD:9068941 20200609 RGD DNA:SNP: :rs4373814(human) PMID:24338417|REF_RGD_ID:13513987 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:11984 hypertrophic cardiomyopathy severity ISO RGD:732576 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1598C>T (p.S533L)(human) PMID:28614222|REF_RGD_ID:13513985 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:2843 long QT syndrome ISO RGD:732576 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:20817017|PMID:22840528|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:630 genetic disease ISO RGD:732576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:28492532 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early repolarization associated with ventricular fibrillation | ClinVar Annotator: match by term: Ventricular fibrillation PMID:20817017|PMID:22840528|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:26707467|PMID:27650965|PMID:28492532|PMID:30027834 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9003740 Nerve Injuries ISO RGD:67385 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion,spindal cord: PMID:22187436|REF_RGD_ID:13514092 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 8829084 Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 gene DOID:9007820 Sudden Death ISO RGD:732576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:0060041 autism spectrum disorder ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:736015 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:736015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:621248 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:621248 D RGD:9068941 20230914 RGD PMID:28458350|REF_RGD_ID:401799674 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:12849 autistic disorder ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:1936 atherosclerosis treatment ISO RGD:1552388 D RGD:9068941 20231019 RGD PMID:33011372|REF_RGD_ID:401842381 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:5419 schizophrenia ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:6000 congestive heart failure ISO RGD:736015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:630 genetic disease ISO RGD:736015 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:9000701 Acetyl-Coa Carboxylase Deficiency ISO RGD:736015 D RGD:7240710 20180130 OMIM 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:9000701 Acetyl-Coa Carboxylase Deficiency ISO RGD:736015 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ACACA DEFICIENCY | ClinVar Annotator: match by term: Acetyl-CoA carboxylase deficiency PMID:25741868|PMID:28492532|PMID:36709796 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:621248 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:9006646 Metabolic Syndrome ISO RGD:1552388 D RGD:9068941 20230427 RGD mRNA:increased expression:liver (mouse) PMID:29684438|REF_RGD_ID:329333017 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:621248 D RGD:9068941 20230914 RGD PMID:27821167|REF_RGD_ID:401799622 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:9007692 Insulin Resistance ISO RGD:621248 D RGD:9068941 20200609 RGD PMID:16485039|REF_RGD_ID:1625727 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:9007692 Insulin Resistance treatment ISO RGD:621248 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8829137 Acaca acetyl-CoA carboxylase alpha gene DOID:9452 steatotic liver disease ISO RGD:621248 D RGD:9068941 20200609 RGD PMID:16485039|REF_RGD_ID:1625727 8829206 Tank TRAF family member associated NFKB activator gene DOID:0080600 COVID-19 ISO RGD:734196 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8829206 Tank TRAF family member associated NFKB activator gene DOID:12849 autistic disorder ISO RGD:734196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 8829206 Tank TRAF family member associated NFKB activator gene DOID:630 genetic disease ISO RGD:734196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829206 Tank TRAF family member associated NFKB activator gene DOID:9008939 Breast Neoplasms ISO RGD:734196 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8829225 Atraid all-trans retinoic acid induced differentiation factor gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1323150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8829225 Atraid all-trans retinoic acid induced differentiation factor gene DOID:630 genetic disease ISO RGD:1323150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829237 Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8829237 Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:732809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8829237 Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:12849 autistic disorder ISO RGD:732809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8829237 Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:2018 hyperinsulinism ISO RGD:3307 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:liver PMID:9705027|REF_RGD_ID:2302681 8829237 Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 gene DOID:630 genetic disease ISO RGD:732809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829266 Snx16 sorting nexin 16 gene DOID:630 genetic disease ISO RGD:733907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829283 Slc9c1 solute carrier family 9 member C1 gene DOID:630 genetic disease ISO RGD:1351436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829320 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:0050700 cardiomyopathy ISO RGD:1347008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 8829320 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:0060356 Vici syndrome ISO RGD:1347008 D RGD:7240710 20180130 OMIM 8829320 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:0060356 Vici syndrome ISO RGD:1347008 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: EPG5-related condition | ClinVar Annotator: match by term: Vici syndrome PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23222957|PMID:23674064|PMID:24033266|PMID:25331754|PMID:25640679|PMID:25741868|PMID:26854214|PMID:26917586|PMID:27343256|PMID:27577878|PMID:28168853|PMID:28492532|PMID:28615637|PMID:28939701|PMID:29130391|PMID:29159459|PMID:31130284|PMID:31184778|PMID:31625567|PMID:31981491|PMID:32313153|PMID:32558422|PMID:33303739|PMID:33365035|PMID:3344762|PMID:9536098 8829320 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:10584 retinitis pigmentosa ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic retinitis pigmentosa 8829320 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:1059 intellectual disability ISO RGD:1347008 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8829320 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:10907 microcephaly ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8829320 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1314820 D RGD:9068941 20220825 MouseDO 8829320 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:612 primary immunodeficiency disease ISO RGD:1347008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 8829320 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:630 genetic disease ISO RGD:1347008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23222957|PMID:23674064|PMID:25741868|PMID:28492532|PMID:31625567|PMID:9536098 8829320 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8829320 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:9005660 Hypopigmentation ISO RGD:1347008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222957 8829320 Epg5 ectopic P-granules 5 autophagy tethering factor gene DOID:9008086 Developmental Disabilities ISO RGD:1347008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 8829381 L3mbtl1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:1612 breast cancer severity ISO RGD:1344736 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:21837478|REF_RGD_ID:9588606 8829381 L3mbtl1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:2234 focal epilepsy ISO RGD:1344736 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8829381 L3mbtl1 L3MBTL histone methyl-lysine binding protein 1 gene DOID:630 genetic disease ISO RGD:1344736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1350771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1350771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:14330 Parkinson's disease ISO RGD:1350771 D RGD:9068941 20200609 RGD human gene in rat model PMID:22090514|REF_RGD_ID:5684916 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:14330 Parkinson's disease ISO RGD:61986 D RGD:9068941 20200609 RGD protein: decreased expression: brain PMID:17996024|REF_RGD_ID:5685370 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:14748 Sotos syndrome ISO RGD:1350771 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:2559 opiate dependence ISO RGD:1350771 D RGD:9068941 20231214 RGD protein:decreased expression:pre-frontal cortex PMID:14969742|REF_RGD_ID:401901596 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:630 genetic disease ISO RGD:1350771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1350771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10094932 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1350771 D RGD:9068941 20200609 RGD protein: decreased expression: mononuclear leukocytes PMID:10094932|REF_RGD_ID:5688380 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:62278 D RGD:9068941 20200609 RGD DNA: deletion: : homozygous PMID:18662895|REF_RGD_ID:5688373 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61986 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, neuron, microglial cell (rat) PMID:23359120|REF_RGD_ID:13792782 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61986 D RGD:9068941 20200609 RGD PMID:23196710|REF_RGD_ID:13792785 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1350771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8829406 Grk6 G protein-coupled receptor kinase 6 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:61986 D RGD:9068941 20200609 RGD associated with Parkinson Disease PMID:20410529|REF_RGD_ID:5684919 8829452 Atxn1 ataxin 1 gene DOID:0050954 spinocerebellar ataxia type 1 ISO RGD:1344585 D RGD:7240710 20180725 OMIM 8829452 Atxn1 ataxin 1 gene DOID:0050954 spinocerebellar ataxia type 1 ISO RGD:1344585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SPINOCEREBELLAR ATROPHY I | ClinVar Annotator: match by term: Spinocerebellar ataxia type 1 PMID:25741868 8829452 Atxn1 ataxin 1 gene DOID:0060224 atrial fibrillation ISO RGD:1344585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8829452 Atxn1 ataxin 1 gene DOID:1289 neurodegenerative disease ISO RGD:1344585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182653 8829452 Atxn1 ataxin 1 gene DOID:5419 schizophrenia ISO RGD:1344585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8829452 Atxn1 ataxin 1 gene DOID:5679 retinal disease ISO RGD:1344585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28182653 8829452 Atxn1 ataxin 1 gene DOID:630 genetic disease ISO RGD:1344585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8829452 Atxn1 ataxin 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1344585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11719269|PMID:16122429|PMID:17322884|PMID:18337722 8829452 Atxn1 ataxin 1 gene DOID:9004705 Olivopontocerebellar Atrophy 1 ISO RGD:1344585 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spinocerebellar atrophy 1 PMID:25741868 8829468 Arl6ip4 ADP ribosylation factor like GTPase 6 interacting protein 4 gene DOID:630 genetic disease ISO RGD:1316976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829506 Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1319056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 8829506 Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase gene DOID:630 genetic disease ISO RGD:1319056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829506 Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase gene DOID:9004461 Familial Persistent Stuttering 2 ISO RGD:1319056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stuttering, familial persistent, 2 PMID:20147709|PMID:21956109 8829520 Pgap6 post-GPI attachment to proteins 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1322834 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8829520 Pgap6 post-GPI attachment to proteins 6 gene DOID:1826 epilepsy ISO RGD:1322834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 8829520 Pgap6 post-GPI attachment to proteins 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8829520 Pgap6 post-GPI attachment to proteins 6 gene DOID:630 genetic disease ISO RGD:1322834 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829544 Ppp6r1 protein phosphatase 6 regulatory subunit 1 gene DOID:0110936 nemaline myopathy 5A ISO RGD:1322857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type PMID:28492532 8829544 Ppp6r1 protein phosphatase 6 regulatory subunit 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8829544 Ppp6r1 protein phosphatase 6 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:1322857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829581 Foxp1 forkhead box P1 gene DOID:0050545 visceral heterotaxy ISO RGD:1318576 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy PMID:25741868|PMID:28492532 8829581 Foxp1 forkhead box P1 gene DOID:0050651 atrioventricular septal defect ISO RGD:1318576 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: AVC DEFECT PMID:25741868|PMID:28492532 8829581 Foxp1 forkhead box P1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8829581 Foxp1 forkhead box P1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:31474318 8829581 Foxp1 forkhead box P1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1318576 D RGD:9068941 20200609 RGD protein:altered expression:neocortex (human) PMID:22759905|REF_RGD_ID:11560525 8829581 Foxp1 forkhead box P1 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:1318576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 PMID:28492532 8829581 Foxp1 forkhead box P1 gene DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome ISO RGD:1318576 D RGD:7240710 20180130 OMIM 8829581 Foxp1 forkhead box P1 gene DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome ISO RGD:1318576 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: FOXP1-related condition | ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome | ClinVar Annotator: match by term: Mental retardation with language impairment and autistic features PMID:17405132|PMID:17576681|PMID:20848658|PMID:20950788|PMID:24214399|PMID:24498627|PMID:25131622|PMID:25326635|PMID:25363768|PMID:25575603|PMID:25741868|PMID:25767709|PMID:26633542|PMID:26647308|PMID:27657687|PMID:27824329|PMID:28492532|PMID:28653555|PMID:28708303|PMID:28714951|PMID:28735298|PMID:28741757|PMID:28884888|PMID:29090079|PMID:29142287|PMID:30385778|PMID:30564305|PMID:31199603|PMID:31474318|PMID:31618753|PMID:32860008|PMID:33427368|PMID:34109629|PMID:34580403|PMID:35991577|PMID:9536098 8829581 Foxp1 forkhead box P1 gene DOID:1059 intellectual disability ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:17576681|PMID:25741868|PMID:26633542|PMID:26647308|PMID:28492532|PMID:28714951|PMID:28741757|PMID:31618753|PMID:9536098 8829581 Foxp1 forkhead box P1 gene DOID:12306 vitiligo ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526340 8829581 Foxp1 forkhead box P1 gene DOID:1255 trichostrongyloidiasis ISO RGD:1308669 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum (rat) PMID:21698235|REF_RGD_ID:11561920 8829581 Foxp1 forkhead box P1 gene DOID:12849 autistic disorder ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8829581 Foxp1 forkhead box P1 gene DOID:12858 Huntington's disease ISO RGD:1318576 D RGD:9068941 20200609 RGD mRNA:decreased expression:caudate nucleus (human) PMID:16405510|REF_RGD_ID:11560524 8829581 Foxp1 forkhead box P1 gene DOID:12858 Huntington's disease ISO RGD:1318577 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum (mouse) PMID:16405510|REF_RGD_ID:11560524 8829581 Foxp1 forkhead box P1 gene DOID:1682 congenital heart disease ISO RGD:1318576 D RGD:9068941 20200609 RGD DNA:missense mutation, deletion:cds, exons:p.P568S (human) PMID:23766104|REF_RGD_ID:11071913 8829581 Foxp1 forkhead box P1 gene DOID:1793 pancreatic cancer ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25485836 8829581 Foxp1 forkhead box P1 gene DOID:1826 epilepsy ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8829581 Foxp1 forkhead box P1 gene DOID:1923 disorder of sexual development ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8829581 Foxp1 forkhead box P1 gene DOID:255 hemangioma ISO RGD:1318576 D RGD:8554872 20221101 ClinVar ClinVar Annotator: match by term: Glabellar hemangioma PMID:25741868 8829581 Foxp1 forkhead box P1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318576 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086 8829581 Foxp1 forkhead box P1 gene DOID:3910 lung adenocarcinoma ISO RGD:1308669 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:16023287|REF_RGD_ID:11561933 8829581 Foxp1 forkhead box P1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121790 8829581 Foxp1 forkhead box P1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1318576 D RGD:9068941 20200609 RGD DNA:snps:intron, enhancer:g.70959438A>G, g.70879779A>C (rs9837992, rs2687201) (human) PMID:26383589|REF_RGD_ID:11535321 8829581 Foxp1 forkhead box P1 gene DOID:540 strabismus ISO RGD:1318576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868 8829581 Foxp1 forkhead box P1 gene DOID:5419 schizophrenia ISO RGD:1318576 D RGD:9068941 20200609 RGD DNA:snp:intron:g.71205600C>T (rsrs7372960) (human) PMID:26460480|REF_RGD_ID:11353286 8829581 Foxp1 forkhead box P1 gene DOID:6000 congestive heart failure ISO RGD:1318576 D RGD:9068941 20200609 RGD PMID:16952980|REF_RGD_ID:1582564 8829581 Foxp1 forkhead box P1 gene DOID:630 genetic disease ISO RGD:1318576 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19352412|PMID:20848658|PMID:20950788|PMID:25326635|PMID:25741868|PMID:26633542|PMID:26647308|PMID:27657687|PMID:28492532|PMID:28714951|PMID:28735298|PMID:28741757|PMID:28884888|PMID:29090079|PMID:30385778|PMID:30564305|PMID:31199603|PMID:31474318|PMID:31618753|PMID:34109629|PMID:34580403|PMID:35991577|PMID:9536098 8829581 Foxp1 forkhead box P1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8829581 Foxp1 forkhead box P1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1308669 D RGD:9068941 20200609 RGD PMID:25156538|REF_RGD_ID:9587823 8829581 Foxp1 forkhead box P1 gene DOID:8283 peritonitis ISO RGD:1318576 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:18799727|REF_RGD_ID:11561898 8829581 Foxp1 forkhead box P1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25485836 8829581 Foxp1 forkhead box P1 gene DOID:9000998 Brain Injuries treatment ISO RGD:1308669 D RGD:9068941 20200609 RGD PMID:26842647|REF_RGD_ID:11561903 8829581 Foxp1 forkhead box P1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318576 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8829581 Foxp1 forkhead box P1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25485836 8829581 Foxp1 forkhead box P1 gene DOID:9008237 Hemimegalencephaly ISO RGD:1318576 D RGD:9068941 20200609 RGD protein:altered expression:neocortex (human) PMID:22759905|REF_RGD_ID:11560525 8829581 Foxp1 forkhead box P1 gene DOID:9008298 Pulmonary Atresia with Ventricular Septal Defect ISO RGD:1318576 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Pulmonary atresia with ventricular septal defect PMID:25741868|PMID:28492532 8829581 Foxp1 forkhead box P1 gene DOID:9008582 Developmental Disease ISO RGD:1318576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:30564305 8829581 Foxp1 forkhead box P1 gene DOID:9009087 Hypoplastic Left Heart Syndrome 1 ISO RGD:1318576 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 PMID:25741868|PMID:28492532 8829581 Foxp1 forkhead box P1 gene DOID:9206 Barrett's esophagus ISO RGD:1318576 D RGD:9068941 20200609 RGD DNA:snp:enhancer:g.70879779A>C (rs2687201) (human) PMID:25447851|REF_RGD_ID:11560527 8829581 Foxp1 forkhead box P1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1318576 D RGD:9068941 20200609 RGD mRNA:decreased expression:interatrial septum (human) PMID:18344372|REF_RGD_ID:11561899 8829652 Fbp1 fructose-bisphosphatase 1 gene DOID:12642 hiatus hernia ISO RGD:735552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 8829652 Fbp1 fructose-bisphosphatase 1 gene DOID:14330 Parkinson's disease ISO RGD:735552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 8829652 Fbp1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:7240710 20180130 OMIM 8829652 Fbp1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:11286391|PMID:12126934|PMID:17576681|PMID:19259699|PMID:20096900|PMID:23881342|PMID:25601412|PMID:25741868|PMID:26549536|PMID:27101822|PMID:28420223|PMID:28492532|PMID:28776561|PMID:29016355|PMID:29203193|PMID:29774539|PMID:29774540|PMID:29774541|PMID:29774542|PMID:29774543|PMID:29774544|PMID:29774545|PMID:30193751|PMID:30858132|PMID:30927757|PMID:7763253|PMID:9382095|PMID:9536098 8829652 Fbp1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:11286391|PMID:12126934|PMID:17576681|PMID:19259699|PMID:20096900|PMID:23881342|PMID:25601412|PMID:25741868|PMID:26549536|PMID:27101822|PMID:28420223|PMID:28492532|PMID:28776561|PMID:29016355|PMID:29203193|PMID:29774539|PMID:29774540|PMID:29774541|PMID:29774542|PMID:29774543|PMID:29774544|PMID:29774545|PMID:30193751|PMID:30858132|PMID:30927757|PMID:31584309|PMID:31965297|PMID:33083013|PMID:33730438|PMID:37507476|PMID:7763253|PMID:9382095|PMID:9536098 8829652 Fbp1 fructose-bisphosphatase 1 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:735552 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10234608|PMID:11286391|PMID:12126934|PMID:16199547|PMID:17576681|PMID:19259699|PMID:20096900|PMID:20151204|PMID:23881342|PMID:25326637|PMID:25601412|PMID:25741868|PMID:26549536|PMID:27101822|PMID:28420223|PMID:28492532|PMID:28776561|PMID:29016355|PMID:29203193|PMID:29774539|PMID:29774540|PMID:29774541|PMID:29774542|PMID:29774543|PMID:29774544|PMID:29774545|PMID:29992913|PMID:30193751|PMID:30858132|PMID:30927757|PMID:31584309|PMID:31965297|PMID:33083013|PMID:33730438|PMID:33999094|PMID:34687058|PMID:37507476|PMID:7763253|PMID:9382095|PMID:9536098 8829652 Fbp1 fructose-bisphosphatase 1 gene DOID:5419 schizophrenia ISO RGD:735552 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8829652 Fbp1 fructose-bisphosphatase 1 gene DOID:630 genetic disease ISO RGD:735552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25601412|PMID:25741868|PMID:26549536|PMID:28420223|PMID:28492532|PMID:28776561|PMID:30193751|PMID:30927757|PMID:7763253|PMID:9382095 8829652 Fbp1 fructose-bisphosphatase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22039417 8829652 Fbp1 fructose-bisphosphatase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22039417 8829652 Fbp1 fructose-bisphosphatase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22039417 8829652 Fbp1 fructose-bisphosphatase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:735552 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 8829663 Ccr9 C-C motif chemokine receptor 9 gene DOID:0080600 COVID-19 ISO RGD:1352272 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8829663 Ccr9 C-C motif chemokine receptor 9 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:1352272 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 8829663 Ccr9 C-C motif chemokine receptor 9 gene DOID:10487 Hirschsprung's disease ISO RGD:1352272 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8829663 Ccr9 C-C motif chemokine receptor 9 gene DOID:1205 allergic disease ISO RGD:1352272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8829663 Ccr9 C-C motif chemokine receptor 9 gene DOID:1824 status epilepticus ISO RGD:1352272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 8829663 Ccr9 C-C motif chemokine receptor 9 gene DOID:2841 asthma ISO RGD:1352272 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood, mature NK T cell PMID:16210593|REF_RGD_ID:5130925 8829663 Ccr9 C-C motif chemokine receptor 9 gene DOID:552 pneumonia ISO RGD:1352272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8829663 Ccr9 C-C motif chemokine receptor 9 gene DOID:630 genetic disease ISO RGD:1352272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829663 Ccr9 C-C motif chemokine receptor 9 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8829673 Meis2 Meis homeobox 2 gene DOID:0050567 orofacial cleft ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations, haplotype insufficiency: : PMID:24678003|REF_RGD_ID:155598680 8829673 Meis2 Meis homeobox 2 gene DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity ISO RGD:1313085 D RGD:7240710 20190315 OMIM 8829673 Meis2 Meis homeobox 2 gene DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity ISO RGD:1313085 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies PMID:17576681|PMID:24678003|PMID:25712757|PMID:25741868|PMID:27225850|PMID:28492532|PMID:30055086|PMID:30291340|PMID:33526774|PMID:9536098 8829673 Meis2 Meis homeobox 2 gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:SNP::rs28480457(human) PMID:29452408|REF_RGD_ID:155630591 8829673 Meis2 Meis homeobox 2 gene DOID:2717 Bloom syndrome ISO RGD:1313085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8829673 Meis2 Meis homeobox 2 gene DOID:3454 brain infarction ISO RGD:1305198 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 8829673 Meis2 Meis homeobox 2 gene DOID:630 genetic disease ISO RGD:1313085 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30291340|PMID:30735726 8829673 Meis2 Meis homeobox 2 gene DOID:674 cleft palate ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations:cds:multiples PMID:30291340|REF_RGD_ID:155598678 8829673 Meis2 Meis homeobox 2 gene DOID:8927 learning disability ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations, haplotype insufficiency: : PMID:24678003|REF_RGD_ID:155598680 8829673 Meis2 Meis homeobox 2 gene DOID:9004397 Calcification of Aortic Valve ISO RGD:1313085 D RGD:9068941 20221020 RGD mRNA,protein:decreased expression:aortic valve: PMID:30594396|REF_RGD_ID:155598679 8829673 Meis2 Meis homeobox 2 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1313085 D RGD:9068941 20221020 RGD DNA:mutations:cds:multiples PMID:30291340|REF_RGD_ID:155598678 8829673 Meis2 Meis homeobox 2 gene DOID:9256 colorectal cancer ISO RGD:1313085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8829708 Pan2 poly(A) specific ribonuclease subunit PAN2 gene DOID:13580 cholestasis ISO RGD:1348496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8829708 Pan2 poly(A) specific ribonuclease subunit PAN2 gene DOID:630 genetic disease ISO RGD:1348496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829708 Pan2 poly(A) specific ribonuclease subunit PAN2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8829744 Cnih4 cornichon family member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8829744 Cnih4 cornichon family member 4 gene DOID:630 genetic disease ISO RGD:1606011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829744 Cnih4 cornichon family member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8829762 Plrg1 pleiotropic regulator 1 gene DOID:630 genetic disease ISO RGD:733629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829781 Fgf13 fibroblast growth factor 13 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8829781 Fgf13 fibroblast growth factor 13 gene DOID:0070381 developmental and epileptic encephalopathy 90 ISO RGD:733500 D RGD:7240710 20210303 OMIM 8829781 Fgf13 fibroblast growth factor 13 gene DOID:0070381 developmental and epileptic encephalopathy 90 ISO RGD:733500 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 90 PMID:25741868|PMID:33245860|PMID:34871784 8829781 Fgf13 fibroblast growth factor 13 gene DOID:1059 intellectual disability ISO RGD:1553609 D RGD:9068941 20220825 MouseDO 8829781 Fgf13 fibroblast growth factor 13 gene DOID:12849 autistic disorder ISO RGD:733500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8829781 Fgf13 fibroblast growth factor 13 gene DOID:1793 pancreatic cancer ISO RGD:733500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 8829781 Fgf13 fibroblast growth factor 13 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 8829781 Fgf13 fibroblast growth factor 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8829781 Fgf13 fibroblast growth factor 13 gene DOID:9005113 X-Linked Intellectual Developmental Disorder 110 ISO RGD:733500 D RGD:7240710 20230125 OMIM 8829781 Fgf13 fibroblast growth factor 13 gene DOID:9005113 X-Linked Intellectual Developmental Disorder 110 ISO RGD:733500 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 110 PMID:34184986 8829807 Kpna1 karyopherin subunit alpha 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1347998 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8829807 Kpna1 karyopherin subunit alpha 1 gene DOID:5419 schizophrenia ISO RGD:1347998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 8829807 Kpna1 karyopherin subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1347998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829807 Kpna1 karyopherin subunit alpha 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8829807 Kpna1 karyopherin subunit alpha 1 gene DOID:9270 alkaptonuria ISO RGD:1347998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8829829 APC APC regulator of WNT signaling pathway gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736624 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:endometrium (human) PMID:18570730|REF_RGD_ID:13432144 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10612827|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12581900|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17568392|PMID:17576681|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28202063|PMID:28283864|PMID:28349240|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28828701|PMID:28873162|PMID:29029407|PMID:29122597|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29987844|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30374176 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:30426508|PMID:30487145|PMID:30613976|PMID:30680046|PMID:30814645|PMID:30897307|PMID:30980208|PMID:31054147|PMID:31113927|PMID:31159747|PMID:31285513|PMID:31428572|PMID:31444830|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33436027|PMID:33773808|PMID:33788735|PMID:35142982|PMID:7562975|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8125478|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9342373|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34479915|PMID:35142982|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21270786|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25974703|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:35142982|PMID:35264596|PMID:35430768|PMID:36097219|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22425061|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:34897210|PMID:35142982|PMID:35264596|PMID:35430768|PMID:35979026|PMID:36097219|PMID:36356413|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22425061|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23757202|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:34897210|PMID:35142982|PMID:35264596|PMID:35430768|PMID:35979026|PMID:36097219|PMID:36356413|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22425061|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:34897210|PMID:35142982|PMID:35264596|PMID:35430768|PMID:35979026|PMID:36097219|PMID:36356413|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23757202|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27574554|PMID:27600092 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29212164|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33193653|PMID:33279946|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33646313|PMID:33753878|PMID:33773808|PMID:33788735|PMID:34250417|PMID:34347074|PMID:34479915|PMID:34897210|PMID:35128723|PMID:35142982|PMID:35264596|PMID:35430768|PMID:35979026|PMID:36097219|PMID:36356413|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15986289|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25326637|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:27443514|PMID:27449473|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29212164|PMID:29245953|PMID:29351919|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29753700|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31504825|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32754865|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33087929|PMID:33193653|PMID:33279946|PMID:33294277|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33646313|PMID:33753878|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34250417|PMID:34347074|PMID:34426522|PMID:34479915|PMID:34897210|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35264596|PMID:35430768|PMID:35979026|PMID:36097219|PMID:36225625|PMID:36356413|PMID:36586069|PMID:36988593|PMID:7524601|PMID:7562975|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:10077047|PMID:10083733|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11818965|PMID:11823972|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12408524|PMID:12486240|PMID:12494469|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1319115|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14523376|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16110024|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16650078|PMID:16875934|PMID:17026565|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18632633|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19196998|PMID:19279422|PMID:19347965|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:2000873|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21110124|PMID:21153778|PMID:21255554|PMID:21315632|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995669|PMID:21995949|PMID:22000517|PMID:22135120|PMID:22150579|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22864938|PMID:22875147|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23204322|PMID:23292937|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24123366|PMID:24310308|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25326637|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25801821|PMID:25832318|PMID:25925381|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26373296|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26917275|PMID:26934580|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27124905 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050424 familial adenomatous polyposis ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27498913|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28349240|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28533537|PMID:28576136|PMID:28608266|PMID:28706299|PMID:28749474|PMID:28791770|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28944238|PMID:29029407|PMID:29122597|PMID:29212164|PMID:29245953|PMID:29338072|PMID:29351919|PMID:29367705|PMID:29368261|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29562902|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29753700|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31269945|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31504825|PMID:31570899|PMID:31874108|PMID:31942411|PMID:32268276|PMID:32292534|PMID:32547059|PMID:32658311|PMID:32754865|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33009979|PMID:33087929|PMID:33193653|PMID:33279946|PMID:33294277|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33646313|PMID:33753878|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34426522|PMID:34479915|PMID:34666312|PMID:34897210|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35264596|PMID:35430768|PMID:35534704|PMID:35979026|PMID:36097219|PMID:36225625|PMID:36243179|PMID:36356413|PMID:36586069|PMID:36988593|PMID:38054408|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:8103406|PMID:8111416|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8931709|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9342373|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9664575|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050589 inflammatory bowel disease ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050860 colorectal adenoma ISO RGD:736624 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Colorectal adenoma PMID:10811618|PMID:11257105|PMID:11823972|PMID:11904335|PMID:16454848|PMID:18199528|PMID:18844223|PMID:20233475|PMID:21859464|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23292937|PMID:23970361|PMID:24033266|PMID:24055113|PMID:2472832|PMID:24728327|PMID:24861525|PMID:25085752|PMID:25178641|PMID:25203624|PMID:25318351|PMID:25356985|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25778705|PMID:25980754|PMID:26000489|PMID:26332594|PMID:26416840|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27535533|PMID:27600092|PMID:28259476|PMID:28301460|PMID:28492532|PMID:28503720|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29684080|PMID:30122538|PMID:30256826|PMID:31159747|PMID:33503190|PMID:34250417|PMID:34301788|PMID:35128723 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050902 medulloblastoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0050902 medulloblastoma ISO RGD:736624 D RGD:9068941 20200609 RGD associated with Adenomatous Polyposis Coli;DNA:mutations: : PMID:17238184|REF_RGD_ID:6484523 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0060041 autism spectrum disorder ISO RGD:736624 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0080366 desmoid tumor ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Desmoid tumor PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:23757202|PMID:25741868|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:7240710 20190227 OMIM 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10454823|PMID:10470088|PMID:10494086|PMID:10562580|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11145293|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11818965|PMID:11819789|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11896079|PMID:11904335|PMID:11933206|PMID:11950808|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12136240|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12527714|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14672538|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15095859|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15446460|PMID:15459959|PMID:15654777|PMID:15689459|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16110024|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:16736293|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17039269|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17410430|PMID:17411426|PMID:17426470|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17568392|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17726045|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:18406876|PMID:1843350|PMID:18433509|PMID:18487285|PMID:186122|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18982352|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19763152|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20307669|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:2068568|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21157497|PMID:21255554|PMID:21315632|PMID:21476993|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:21646762|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22406018|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22608206|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22773231|PMID:22799487|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22941256|PMID:22976915|PMID:22987206 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:22995991|PMID:23054214|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23274167|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23585368|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23725351|PMID:23757202|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24142997|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:24763289|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:24946964|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159889|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25243319|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25640679|PMID:25665006|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25941542|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26650777|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26787237|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27217144|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27343414|PMID:27347161|PMID:27354939|PMID:27391059|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27683109|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28413499|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28569743|PMID:28576136|PMID:28595259|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29069792|PMID:29109117|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:29489754|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29620724|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29752822|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:2996804|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256815|PMID:30256826|PMID:30257133|PMID:30262796|PMID:30267214|PMID:30272267|PMID:30274973|PMID:30279230|PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30443844|PMID:30487145|PMID:30523670|PMID:30569724|PMID:30580288|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31118792|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31613886|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32067438|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32268276|PMID:32281046|PMID:32283892|PMID:32369273|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32552793|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33087929|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33753878|PMID:33769591|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34666312|PMID:34707284|PMID:34754157|PMID:34771502|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35070997|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35260767|PMID:35264596|PMID:35430768|PMID:35495172|PMID:35534704|PMID:35979026|PMID:35980532|PMID:36097219|PMID:36225625|PMID:36243179|PMID:36356413|PMID:36586069|PMID:36898365|PMID:36900197|PMID:36988593|PMID:38054408|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7797123|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:7981688|PMID:8019566|PMID:8020934|PMID:8103406|PMID:8111410|PMID:8111416|PMID:8125478|PMID:814096|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8390900|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8733048|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8931709|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8968744|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9382065|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9843214|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0111349 hereditary desmoid disease ISO RGD:736624 D RGD:7240710 20180130 OMIM 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0111349 hereditary desmoid disease ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation PMID:10077047|PMID:10077730|PMID:10083733|PMID:10094547|PMID:10470088|PMID:10713886|PMID:10768871|PMID:10782927|PMID:11001924|PMID:11247896|PMID:11317365|PMID:11668620|PMID:11741105|PMID:11748858|PMID:11933206|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12173026|PMID:12357334|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14523376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15857185|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16292097|PMID:16317745|PMID:16461775|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17785554|PMID:17963004|PMID:18155426|PMID:18199528|PMID:18433509|PMID:19029688|PMID:19196998|PMID:19279422|PMID:19444466|PMID:1944466|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20513532|PMID:20649969|PMID:2068566|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21153778|PMID:21643010|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22425061|PMID:22431159|PMID:22447671|PMID:22703879|PMID:22864938|PMID:22987206|PMID:23116752|PMID:23159591|PMID:23460355|PMID:23484150|PMID:23970361|PMID:24033266|PMID:24055113|PMID:24123366|PMID:24448499|PMID:24573554|PMID:24599579|PMID:24728327|PMID:24735542|PMID:25085752|PMID:25186627|PMID:25203624|PMID:25318351|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25778705|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26138249|PMID:26207792|PMID:26300997|PMID:26320869|PMID:26332594|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26510091|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26681312|PMID:26690363|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27028212|PMID:27081525|PMID:27150160|PMID:27153395|PMID:27302369|PMID:27498913|PMID:27600092|PMID:27621404|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28202063|PMID:28283864|PMID:28301460|PMID:28492532|PMID:28526081|PMID:28608266|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29122597|PMID:29212164|PMID:29367705|PMID:29419868|PMID:29641532|PMID:29684080|PMID:29915797|PMID:29945567|PMID:30267214|PMID:30374176|PMID:30613976|PMID:30897307|PMID:31054147|PMID:31069152|PMID:31159747|PMID:31278746|PMID:31422818|PMID:31428572|PMID:31570899|PMID:31613886|PMID:31854063|PMID:31874108|PMID:31942411|PMID:32658311|PMID:32980694|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33352971|PMID:33670833|PMID:34326862|PMID:34426522|PMID:34479915|PMID:34666312|PMID:34707284|PMID:35142982|PMID:35189564|PMID:35264596|PMID:35430768|PMID:36243179|PMID:36586069|PMID:36988593|PMID:7485167|PMID:7524601|PMID:7661930|PMID:7833149|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8381579|PMID:8381580|PMID:8594558|PMID:8730280|PMID:8844222|PMID:8940264|PMID:8990002|PMID:9101302|PMID:9342373|PMID:9375853|PMID:9536098|PMID:9585611|PMID:9664575|PMID:9669663|PMID:9824584|PMID:9950360 8829829 Apc APC regulator of WNT signaling pathway gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 8829829 Apc APC regulator of WNT signaling pathway gene DOID:10283 prostate cancer ISO RGD:10166 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 8829829 Apc APC regulator of WNT signaling pathway gene DOID:10283 prostate cancer disease_progression ISO RGD:730903 D RGD:9068941 20220317 RGD PMID:16322291|REF_RGD_ID:151665170 8829829 Apc APC regulator of WNT signaling pathway gene DOID:10534 stomach cancer ISO RGD:736624 D RGD:7240710 20220209 OMIM 8829829 Apc APC regulator of WNT signaling pathway gene DOID:10534 stomach cancer ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10094547|PMID:11247896|PMID:11754114|PMID:12007223|PMID:12034871|PMID:12357334|PMID:1316610|PMID:1317264|PMID:1324223|PMID:15108286|PMID:15311282|PMID:15951963|PMID:16461775|PMID:17293347|PMID:17963004|PMID:18433509|PMID:19531215|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20685668|PMID:20924072|PMID:22135120|PMID:23159591|PMID:24033266|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26613750|PMID:26681312|PMID:26845104|PMID:27081525|PMID:28152038|PMID:28492532|PMID:29754767|PMID:30256826|PMID:30287922|PMID:30897307|PMID:31285513|PMID:31942411|PMID:34666312|PMID:36988593|PMID:8381579|PMID:9824584 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1059 intellectual disability ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8071957 8829829 Apc APC regulator of WNT signaling pathway gene DOID:10652 Alzheimer's disease ISO RGD:736624 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte PMID:11547943|REF_RGD_ID:6484525 8829829 Apc APC regulator of WNT signaling pathway gene DOID:10816 duodenum adenocarcinoma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duodenal adenocarcinoma PMID:24033266|PMID:25741868|PMID:26530882|PMID:28195569|PMID:28492532|PMID:30111351|PMID:30833958 8829829 Apc APC regulator of WNT signaling pathway gene DOID:11394 adult respiratory distress syndrome ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1168 familial hyperlipidemia ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17546600 8829829 Apc APC regulator of WNT signaling pathway gene DOID:12192 sigmoid colon cancer ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:25741868|PMID:28492532 8829829 Apc APC regulator of WNT signaling pathway gene DOID:12849 autistic disorder ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17221838|PMID:8071957 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer ISO RGD:736624 D RGD:9068941 20200609 RGD protein:increased expression:endometrium (human) PMID:15951972|REF_RGD_ID:13673917 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer severity ISO RGD:10166 D RGD:9068941 20200609 RGD with Pten knockout PMID:23288720|REF_RGD_ID:13524585 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer severity ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:mutations, haplotype:cds:multiple (human) PMID:29876005|REF_RGD_ID:13673916 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1380 endometrial cancer treatment ISO RGD:736624 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:22907428|REF_RGD_ID:13524624 8829829 Apc APC regulator of WNT signaling pathway gene DOID:13938 amenorrhea ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8829829 Apc APC regulator of WNT signaling pathway gene DOID:14566 disease of cellular proliferation ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10830991|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11823972|PMID:11852337|PMID:11960572|PMID:12007223|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12486240|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14729851|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15857185|PMID:15929773|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16461775|PMID:1651563|PMID:16569251|PMID:16680592|PMID:16875934|PMID:17064931|PMID:17119068|PMID:17293347|PMID:17410430|PMID:17411426|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18393237|PMID:18433509|PMID:18770064|PMID:18794146|PMID:18948947|PMID:19029688|PMID:19196998|PMID:19336753|PMID:19347965|PMID:19444466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21520333|PMID:21653199|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21970370|PMID:21995949|PMID:22135120|PMID:22150579|PMID:22431159|PMID:22585170|PMID:22703879|PMID:2281069|PMID:22810696|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23204322|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23715166|PMID:23846443|PMID:23896379|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24518971|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24750145|PMID:24861525|PMID:25142776|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25257991|PMID:25318351|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25722345|PMID:25741868|PMID:25778705|PMID:25832318|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26511139|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26667234|PMID:26681312|PMID:26819281|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27156442|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27705013|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28185118|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28301460|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28528518|PMID:28533537|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28944238|PMID:29122597|PMID:29367705|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29684080|PMID:29901124|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31062380|PMID:31069152|PMID:31159747|PMID:31175917|PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32543227|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:736624 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:33352971|PMID:33503190|PMID:33875564|PMID:34479915|PMID:35142982|PMID:36988593|PMID:7524601|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7959691|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8941012|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:736624 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10646887|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10830991|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11823972|PMID:11852337|PMID:11960572|PMID:12007223|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12486240|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15857185|PMID:15929773|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16461775|PMID:1651563|PMID:16569251|PMID:16680592|PMID:16875934|PMID:17064931|PMID:17119068|PMID:17293347|PMID:17410430|PMID:17411426|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17726045|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18393237|PMID:18433509|PMID:18770064|PMID:18794146|PMID:18948947|PMID:19029688|PMID:19196998|PMID:19336753|PMID:19347965|PMID:19444466|PMID:19474113|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21153778|PMID:21315632|PMID:21520333|PMID:21653199|PMID:21779980|PMID:21859464|PMID:21901162|PMID:21970370|PMID:21995949|PMID:22135120|PMID:22150579|PMID:22431159|PMID:22585170|PMID:22703879|PMID:22722829|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23204322|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23715166|PMID:23846443|PMID:23896379|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24518971|PMID:24573554|PMID:24599579|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24750145|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25257991|PMID:25318351|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25722345|PMID:25741868|PMID:25778705|PMID:25832318|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26138249|PMID:26161710|PMID:26173098|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26493165|PMID:26511139|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26667234|PMID:26681312|PMID:26819281|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27081525|PMID:27121310|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27705013|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28185118|PMID:28202063|PMID:28251689|PMID:28283864|PMID:28301460|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28528518|PMID:28533537|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28944238|PMID:29122597|PMID:29351919|PMID:29367705|PMID:29371908|PMID:29419868|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29753700|PMID:29901124|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31062380|PMID:31069152|PMID:31159747|PMID:31175917 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1520 colon carcinoma ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:31283021|PMID:31285513|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31504825|PMID:32067438|PMID:32123317|PMID:32543227|PMID:32658311|PMID:32754865|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33352971|PMID:33503190|PMID:33875564|PMID:34426522|PMID:34479915|PMID:34646395|PMID:34666312|PMID:35142982|PMID:35189564|PMID:35264596|PMID:35979026|PMID:36225625|PMID:36988593|PMID:38054408|PMID:7524601|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7959691|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8941012|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1612 breast cancer ISO RGD:736624 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10439961|PMID:10679643|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11354631|PMID:11551102|PMID:11720476|PMID:12173321|PMID:12533824|PMID:12621137|PMID:14624392|PMID:14633595|PMID:15712637|PMID:15929773|PMID:16228836|PMID:16875934|PMID:17854661|PMID:18343606|PMID:18770064|PMID:20301519|PMID:21859464|PMID:22703879|PMID:23576677|PMID:23896379|PMID:24033266|PMID:24310308|PMID:24416237|PMID:24599579|PMID:24728327|PMID:25604157|PMID:25741868|PMID:26187149|PMID:26300997|PMID:26314409|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26845104|PMID:27146957|PMID:27153395|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28492532|PMID:28749474|PMID:29478780|PMID:29506128|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32658311|PMID:32854451|PMID:33193653|PMID:33332384|PMID:38054408|PMID:8940262|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1749 squamous cell carcinoma ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1793 pancreatic cancer ISO RGD:10166 D RGD:9068941 20200609 RGD DNA:mutation, loss of heterozygosity PMID:7478622|REF_RGD_ID:2317207 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1793 pancreatic cancer ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:deletions (human) PMID:1423316|REF_RGD_ID:2317208 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1896 sigmoid neoplasm ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sigmoid colon cancer PMID:25741868|PMID:28492532 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1984 rectal benign neoplasm ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11766074|PMID:8071957 8829829 Apc APC regulator of WNT signaling pathway gene DOID:1996 rectum adenocarcinoma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rectum adenocarcinoma PMID:24033266|PMID:25741868|PMID:26530882|PMID:28195569|PMID:28492532|PMID:30111351|PMID:30833958 8829829 Apc APC regulator of WNT signaling pathway gene DOID:218 ascending colon cancer ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant tumor of ascending colon PMID:25741868|PMID:28492532|PMID:30093976 8829829 Apc APC regulator of WNT signaling pathway gene DOID:219 colon cancer ISO RGD:736624 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:22675565|PMID:25741868|PMID:26467025|PMID:26692440|PMID:26837502|PMID:28492532|PMID:30252101 8829829 Apc APC regulator of WNT signaling pathway gene DOID:234 colon adenocarcinoma ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon adenocarcinoma PMID:24033266|PMID:24728327|PMID:25741868|PMID:27978560|PMID:28492532 8829829 Apc APC regulator of WNT signaling pathway gene DOID:2355 anemia ISO RGD:2123 D RGD:9068941 20201211 RGD PMID:17360473|REF_RGD_ID:1601201 8829829 Apc APC regulator of WNT signaling pathway gene DOID:2361 macrocytic anemia ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8829829 Apc APC regulator of WNT signaling pathway gene DOID:2394 ovarian cancer ISO RGD:736624 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:18199528|PMID:19307944|PMID:21859464|PMID:25203624|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26000489|PMID:26332594|PMID:26467025|PMID:26530882|PMID:27121310|PMID:28195569|PMID:28492532|PMID:28706299|PMID:28744403|PMID:28944238|PMID:29069792|PMID:29684080|PMID:29752822|PMID:30256826|PMID:31062380|PMID:33193653|PMID:34250417|PMID:36243179 8829829 Apc APC regulator of WNT signaling pathway gene DOID:2671 transitional cell carcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:21599969|REF_RGD_ID:7242057 8829829 Apc APC regulator of WNT signaling pathway gene DOID:2871 endometrial carcinoma ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:28492532|PMID:32885271 8829829 Apc APC regulator of WNT signaling pathway gene DOID:2871 endometrial carcinoma onset ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: (human) PMID:19900189|REF_RGD_ID:13524625 8829829 Apc APC regulator of WNT signaling pathway gene DOID:299 adenocarcinoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:9111214 8829829 Apc APC regulator of WNT signaling pathway gene DOID:299 adenocarcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:frameshift mutations, nonsense mutations:exon:multiple (human) PMID:11677205|REF_RGD_ID:2317202 8829829 Apc APC regulator of WNT signaling pathway gene DOID:3025 acinar cell carcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:mutations (human) PMID:11891193|REF_RGD_ID:2317200 8829829 Apc APC regulator of WNT signaling pathway gene DOID:3068 glioblastoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 8829829 Apc APC regulator of WNT signaling pathway gene DOID:3121 gallbladder cancer disease_progression ISO RGD:736624 D RGD:9068941 20220210 RGD DNA:SNP::rs11954856(human) PMID:26715268|REF_RGD_ID:151356500 8829829 Apc APC regulator of WNT signaling pathway gene DOID:3459 breast carcinoma ISO RGD:736624 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:10439961|PMID:10679643|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11354631|PMID:11551102|PMID:11720476|PMID:12173321|PMID:12533824|PMID:12621137|PMID:14624392|PMID:14633595|PMID:15712637|PMID:15929773|PMID:16228836|PMID:16875934|PMID:17854661|PMID:18343606|PMID:18770064|PMID:20301519|PMID:21859464|PMID:22703879|PMID:23576677|PMID:23896379|PMID:24033266|PMID:24310308|PMID:24416237|PMID:24599579|PMID:24728327|PMID:25604157|PMID:25741868|PMID:26187149|PMID:26300997|PMID:26314409|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26845104|PMID:27146957|PMID:27153395|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28492532|PMID:28749474|PMID:29478780|PMID:29506128|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31444830|PMID:31447099|PMID:31465090|PMID:32658311|PMID:32854451|PMID:33193653|PMID:33332384|PMID:38054408|PMID:8940262|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:3840 craniopharyngioma ISO RGD:736624 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:10083733|PMID:11247896|PMID:12172928|PMID:12486240|PMID:1316610|PMID:15311282|PMID:15771908|PMID:16088911|PMID:17293347|PMID:18794146|PMID:19029688|PMID:20649969|PMID:20924072|PMID:22135120|PMID:23159591|PMID:25590978|PMID:25741868|PMID:26446593|PMID:26467025|PMID:26625971|PMID:26840078|PMID:27081525|PMID:28492532|PMID:29351919|PMID:29753700|PMID:31159747|PMID:31469036|PMID:31504825|PMID:35189564|PMID:36225625|PMID:8162022|PMID:8381579|PMID:8381581|PMID:8395941|PMID:9824584 8829829 Apc APC regulator of WNT signaling pathway gene DOID:3883 Lynch syndrome ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7661930 8829829 Apc APC regulator of WNT signaling pathway gene DOID:3908 lung non-small cell carcinoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 8829829 Apc APC regulator of WNT signaling pathway gene DOID:3910 lung adenocarcinoma ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10646887|PMID:1316610|PMID:1338764|PMID:15311282|PMID:16134147|PMID:17293347|PMID:18433509|PMID:18948947|PMID:20223039|PMID:20685668|PMID:20924072|PMID:21901162|PMID:22135120|PMID:2281069|PMID:22987206|PMID:23700467|PMID:25157968|PMID:25741868|PMID:27081525|PMID:27993330|PMID:28492532|PMID:8187091|PMID:8381579|PMID:9824584 8829829 Apc APC regulator of WNT signaling pathway gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:736624 D RGD:9068941 20200609 RGD DNA,protein:LOH,decreased expression: : PMID:10426194|REF_RGD_ID:7242060 8829829 Apc APC regulator of WNT signaling pathway gene DOID:4450 renal cell carcinoma onset ISO RGD:10166 D RGD:9068941 20200609 RGD PMID:16116480|REF_RGD_ID:7242056 8829829 Apc APC regulator of WNT signaling pathway gene DOID:4450 renal cell carcinoma severity ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:LOH: : PMID:15203750|REF_RGD_ID:7242059 8829829 Apc APC regulator of WNT signaling pathway gene DOID:4927 Klatskin's tumor ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klatskin tumor PMID:25741868|PMID:28492532 8829829 Apc APC regulator of WNT signaling pathway gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma PMID:24728327|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26530882|PMID:28135048|PMID:28195569|PMID:28492532|PMID:32390703 8829829 Apc APC regulator of WNT signaling pathway gene DOID:4947 cholangiocarcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15467712|REF_RGD_ID:2317198 8829829 Apc APC regulator of WNT signaling pathway gene DOID:4947 cholangiocarcinoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:10212000|REF_RGD_ID:2317205 8829829 Apc APC regulator of WNT signaling pathway gene DOID:630 genetic disease ISO RGD:736624 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:36898365 8829829 Apc APC regulator of WNT signaling pathway gene DOID:657 adenoma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10383901|PMID:12034317|PMID:19092804|PMID:30188895|PMID:9111214 8829829 Apc APC regulator of WNT signaling pathway gene DOID:657 adenoma ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:frameshift mutations, nonsense mutations:exon:multiple (human) PMID:11677205|REF_RGD_ID:2317202 8829829 Apc APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:7240710 20180130 OMIM 8829829 Apc APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11466687|PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:24728327|PMID:25479140|PMID:25741868|PMID:26530882|PMID:27081525|PMID:28135048|PMID:28195569|PMID:28492532|PMID:8381579|PMID:9824584 8829829 Apc APC regulator of WNT signaling pathway gene DOID:684 hepatocellular carcinoma ISO RGD:736624 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11466687|PMID:15459959|PMID:17489848|PMID:17576681|PMID:18199528|PMID:19793053|PMID:20223039|PMID:20685668|PMID:21859464|PMID:21901162|PMID:22431159|PMID:23159591|PMID:24033266|PMID:24599579|PMID:24728327|PMID:25479140|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26845104|PMID:27150160|PMID:28135048|PMID:28195569|PMID:28492532|PMID:29641532|PMID:29684080|PMID:30267214|PMID:32390703|PMID:34426522|PMID:35264596|PMID:8381580|PMID:9536098 8829829 Apc APC regulator of WNT signaling pathway gene DOID:687 hepatoblastoma ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:1316610|PMID:15311282|PMID:17293347|PMID:20685668|PMID:22135120|PMID:27081525|PMID:28492532|PMID:35495172|PMID:8381579|PMID:8764128|PMID:9824584 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9000011 Gallbladder Neoplasms ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15447999|REF_RGD_ID:2317199 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9000217 Stomach Neoplasms ISO RGD:736624 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach | ClinVar Annotator: match by term: Stomach Neoplasms PMID:15459959|PMID:17489848|PMID:17576681|PMID:18199528|PMID:19793053|PMID:20223039|PMID:20685668|PMID:21859464|PMID:21901162|PMID:22431159|PMID:23159591|PMID:24033266|PMID:24599579|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27150160|PMID:28380452|PMID:28492532|PMID:29237405|PMID:29641532|PMID:29684080|PMID:30267214|PMID:32658311|PMID:34426522|PMID:35264596|PMID:8381580|PMID:9536098 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9111214 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9001039 Leukocytosis ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9001441 Adenomatous Polyps ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12810952 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9001642 Intestinal Polyps ISO RGD:736624 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:12189188|PMID:14991580|PMID:15063141|PMID:24431404|PMID:26262998|PMID:31715269|PMID:8561861 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9001981 Weight Loss ISO RGD:736624 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:24431404 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9002221 Hyperplasia ISO RGD:10166 D RGD:9068941 20200609 RGD PMID:17596282|REF_RGD_ID:2317191 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9002232 Attenuated Adenomatous Polyposis Coli ISO RGD:736624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 PMID:11317365|PMID:1316610|PMID:1324223|PMID:15108288|PMID:17963004|PMID:20223039|PMID:20685668|PMID:25741868|PMID:28492532|PMID:28944238|PMID:31062380|PMID:7661930|PMID:8990002|PMID:9950360 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms ISO RGD:10166 D RGD:9068941 20200609 RGD PMID:16959882|PMID:8090754|REF_RGD_ID:6484212|REF_RGD_ID:7242058 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms ISO RGD:2123 D RGD:9068941 20201211 RGD PMID:17360473|REF_RGD_ID:1601201 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9002245 Intestinal Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706516|PMID:16962818|PMID:19092804|PMID:26335331|PMID:27840820|PMID:9111214 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9002304 Prostatic Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17363566|PMID:29610475 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9002720 Splenomegaly ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9002722 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach ISO RGD:736624 D RGD:7240710 20210303 OMIM 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9002722 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma and proximal polyposis of the stomach PMID:10083733|PMID:10094547|PMID:10713886|PMID:11748858|PMID:11933206|PMID:12007223|PMID:12173026|PMID:1324223|PMID:15024739|PMID:15108288|PMID:16088911|PMID:16292097|PMID:16317745|PMID:17411426|PMID:18433509|PMID:1944466|PMID:20223039|PMID:20685668|PMID:20924072|PMID:21813476|PMID:22027476|PMID:22851115|PMID:25741868|PMID:26300997|PMID:26446593|PMID:26467025|PMID:27087319|PMID:27343414|PMID:28492532|PMID:28533537|PMID:29112017|PMID:29141268|PMID:2996804|PMID:29968043|PMID:30374176|PMID:31159747|PMID:31409086|PMID:33242120|PMID:8381579|PMID:8990002|PMID:9950360 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9002928 Colonic Neoplasms ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:17963004|PMID:20223039|PMID:20685668|PMID:25525159|PMID:25741868|PMID:28492532|PMID:7959691 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9003291 Aggressive Fibromatosis ISO RGD:736624 D RGD:9068941 20240203 CTD CTD Direct Evidence: marker/mechanism PMID:11816139 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9003566 Mesothelioma ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659810 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9004271 Colonic Polyps ISO RGD:2123 D RGD:9068941 20201211 RGD PMID:17360473|REF_RGD_ID:1601201 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9004351 Digestive System Neoplasms ISO RGD:736624 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion, loss of heterozygosity PMID:9369932|REF_RGD_ID:2317206 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9004594 Jaw Neoplasms ISO RGD:2123 D RGD:9068941 20201211 RGD PMID:17360473|REF_RGD_ID:1601201 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9005100 Aberrant Crypt Foci ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14507667 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9005172 Lung Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18337602 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9005612 Endometrial Intraepithelial Neoplasia ISO RGD:736624 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Atypical endometrial hyperplasia PMID:1316610|PMID:15311282|PMID:17293347|PMID:22135120|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9006031 Abdominal Fibromatosis ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10686957 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:736624 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis PMID:25741868|PMID:28492532 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297660 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9006802 Attenuated Familial Adenomatous Polyposis ISO RGD:736624 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Attenuated familial adenomatous polyposis PMID:25741868|PMID:28492532 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11466687|PMID:11551102|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11768389|PMID:11818965|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12581900|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16883523|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17230660|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19331226|PMID:19336753|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20033787|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20682701|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21520333|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25832318|PMID:25925381|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27282352|PMID:27284491|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:28891274|PMID:28944238|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:35142982|PMID:7490101|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8125478|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9375853|PMID:9382065|PMID:9452101|PMID:9487968|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11466687|PMID:11551102|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11768389|PMID:11818965|PMID:11839722|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12581900|PMID:12702169|PMID:12721244|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16883523|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17230660|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17576681|PMID:17604324|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19725996|PMID:19768578|PMID:19793053|PMID:20007843|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21520333|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651453|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25338684|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35128723|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012|PMID:8956059 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:27997549|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28380452|PMID:28423518|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29562902|PMID:29596542|PMID:29641532|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256826|PMID:30267214|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32251017|PMID:32283892|PMID:32390703|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33332384|PMID:33436027|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33875564|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34754157|PMID:35128723|PMID:35142982|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7959691|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8187091|PMID:8252630|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8940262|PMID:8941012 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8956059|PMID:8990002|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9487968|PMID:9494520|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21270786|PMID:21315632|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722839|PMID:22773231|PMID:22799487|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25665006|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28349240|PMID:28380452|PMID:28413499|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28576136|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29109117|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29150975|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29458332|PMID:29478780|PMID:29485843|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30256815|PMID:30256826|PMID:30267214|PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30487145|PMID:30523670|PMID:30569724|PMID:30580288|PMID:30584346|PMID:30613976|PMID:30620386|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31175917 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32283892|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34479915|PMID:34545850|PMID:34754157|PMID:34855061|PMID:34897210|PMID:35098669|PMID:35128723|PMID:35142982|PMID:36988593|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:8020934|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31486992|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31802619|PMID:31874108|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32067438|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32283892|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32552793|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32829589|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33606809|PMID:33646313|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34479915|PMID:34545850|PMID:34754157|PMID:34855061|PMID:34897210|PMID:35070997|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35264596|PMID:35430768|PMID:35979026|PMID:35980532|PMID:36097219|PMID:36356413|PMID:36988593|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:8020934|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11818965|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15446460|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15986289|PMID:16088911|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17726045|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:1843350|PMID:18433509|PMID:18487285|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21157497|PMID:21315632|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22608206|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22773231|PMID:22799487|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23274167|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24142997 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25665006|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26650777|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28349240|PMID:28380452|PMID:28413499|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28569743|PMID:28576136|PMID:28595259|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29109117|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29150975|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29620724|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29752822|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102|PMID:30239046|PMID:30252101|PMID:30256815|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30287922|PMID:30306255|PMID:30324682 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30374176|PMID:30426508|PMID:30443844|PMID:30487145|PMID:30523670|PMID:30569724|PMID:30580288|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31613886|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32067438|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32283892|PMID:32369273|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32552793|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33087929|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34707284|PMID:34754157|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35070997|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35264596|PMID:35430768|PMID:35534704|PMID:35979026|PMID:35980532|PMID:36097219|PMID:36225625|PMID:36243179|PMID:36356413|PMID:36586069|PMID:36988593|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:8020934|PMID:8103406|PMID:8111410|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10077047|PMID:10083733|PMID:10090483|PMID:10094547|PMID:10439961|PMID:10470088|PMID:10598803|PMID:10612827|PMID:10634400|PMID:10646887|PMID:10666372|PMID:10669993|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10737795|PMID:10768871|PMID:10811618|PMID:10830991|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247895|PMID:11247896|PMID:11257105|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11355315|PMID:11466687|PMID:11551102|PMID:11559652|PMID:11606402|PMID:11668620|PMID:11707392|PMID:11720476|PMID:11741105|PMID:11748858|PMID:11754114|PMID:11768389|PMID:11818965|PMID:11819789|PMID:11823972|PMID:11839722|PMID:11852337|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12007223|PMID:12010888|PMID:12034871|PMID:12172928|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12374230|PMID:12486240|PMID:12494469|PMID:12503191|PMID:12533824|PMID:12537656|PMID:12581900|PMID:12621137|PMID:12702169|PMID:12721244|PMID:12894596|PMID:12901799|PMID:1316610|PMID:1317264|PMID:1319115|PMID:1319838|PMID:1324223|PMID:1338764|PMID:1338904|PMID:14514668|PMID:14522379|PMID:14523376|PMID:14574009|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14729851|PMID:14734220|PMID:14961559|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15131404|PMID:15133491|PMID:15266213|PMID:1528264|PMID:15300576|PMID:15300853|PMID:15311282|PMID:15446460|PMID:15459959|PMID:15654777|PMID:15712637|PMID:15771908|PMID:15833136|PMID:15857185|PMID:15929773|PMID:15951963|PMID:15952110|PMID:15986289|PMID:16088911|PMID:16111973|PMID:16134147|PMID:16199547|PMID:16228836|PMID:16292097|PMID:16317745|PMID:16454848|PMID:16461775|PMID:16478792|PMID:1651174|PMID:1651563|PMID:16569251|PMID:16616356|PMID:16650078|PMID:16680592|PMID:1678319|PMID:16875934|PMID:16944273|PMID:17039269|PMID:17064931|PMID:17119068|PMID:17135589|PMID:17169185|PMID:17293347|PMID:17411426|PMID:17486639|PMID:17489848|PMID:17556698|PMID:17576681|PMID:17604324|PMID:17665205|PMID:17704924|PMID:17726045|PMID:17785554|PMID:17854661|PMID:17881494|PMID:17920230|PMID:17963004|PMID:18063416|PMID:18155426|PMID:18166348|PMID:18199528|PMID:18224684|PMID:18343606|PMID:18369740|PMID:18387968|PMID:18393237|PMID:1843350|PMID:18433509|PMID:18487285|PMID:186122|PMID:18612690|PMID:18629394|PMID:18770064|PMID:18794146|PMID:18844223|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19111562|PMID:19196998|PMID:19279422|PMID:19307944|PMID:19331226|PMID:19336753|PMID:19347965|PMID:19409520|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19506109|PMID:19531215|PMID:19701947|PMID:19725996|PMID:19768578|PMID:19793053|PMID:19995397|PMID:20007843|PMID:20033787|PMID:20223039|PMID:20232483|PMID:20233475|PMID:20301519|PMID:20333795|PMID:20434453|PMID:20513532|PMID:20564245|PMID:20649969|PMID:20682701|PMID:2068566|PMID:20685668|PMID:20924072|PMID:20977806|PMID:21078199|PMID:21110124|PMID:21142386|PMID:21153778|PMID:21157497|PMID:21255554|PMID:21315632|PMID:21520333|PMID:21533174|PMID:21598003|PMID:21643010|PMID:2164769|PMID:21653199|PMID:21779980|PMID:21813476|PMID:21858148|PMID:21859464|PMID:21901162|PMID:21902576|PMID:21909382|PMID:21970370|PMID:21995949|PMID:22000517|PMID:22027476|PMID:22135120|PMID:22150579|PMID:22164339|PMID:22395475|PMID:22425061|PMID:22431159|PMID:22434720|PMID:22447671|PMID:22585170|PMID:22608206|PMID:22645652|PMID:22669205|PMID:22675565|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22773231|PMID:22799487|PMID:22809634|PMID:2281069|PMID:22810696|PMID:22851115|PMID:22863191|PMID:22864254|PMID:22864938|PMID:22875147|PMID:22895193|PMID:22941256|PMID:22976915|PMID:22987206|PMID:22995991|PMID:23054214|PMID:23085758|PMID:23116752|PMID:23159591|PMID:23185543|PMID:23204322|PMID:23244118|PMID:23274167|PMID:23292937|PMID:23348723|PMID:23460355|PMID:23484150|PMID:23561487|PMID:23571587|PMID:23575299|PMID:23576677|PMID:23700467|PMID:23709753|PMID:23715166|PMID:23771323|PMID:23846443|PMID:23896379|PMID:23910461 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24123366|PMID:24142997|PMID:24233542|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24470207|PMID:24498620|PMID:24506336|PMID:24518971|PMID:24549056|PMID:24573554|PMID:24599579|PMID:24618431|PMID:24651015|PMID:24651453|PMID:24664542|PMID:2472832|PMID:24728327|PMID:24735542|PMID:24750145|PMID:24755471|PMID:2478327|PMID:24790607|PMID:24841357|PMID:24861525|PMID:25085752|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25159915|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25231023|PMID:25256751|PMID:25257991|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25356985|PMID:25479140|PMID:25490678|PMID:25525159|PMID:25559809|PMID:25590978|PMID:25604157|PMID:25637381|PMID:25665006|PMID:25676610|PMID:25710373|PMID:25722345|PMID:25741868|PMID:25742471|PMID:25778705|PMID:25801821|PMID:25815427|PMID:25819062|PMID:25832318|PMID:25925381|PMID:25938944|PMID:25980754|PMID:25981591|PMID:25992589|PMID:26000489|PMID:26023681|PMID:26138249|PMID:26161710|PMID:26163615|PMID:26173098|PMID:26178707|PMID:26187149|PMID:26207792|PMID:26252958|PMID:26300997|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26336887|PMID:26338694|PMID:26373296|PMID:26378065|PMID:26394139|PMID:26414517|PMID:26416840|PMID:26421687|PMID:26446593|PMID:26447891|PMID:26467025|PMID:26480326|PMID:26486734|PMID:26493165|PMID:26508446|PMID:26510091|PMID:26511139|PMID:26517685|PMID:26530882|PMID:26556299|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26643872|PMID:26650777|PMID:26667234|PMID:26681312|PMID:26684191|PMID:26690363|PMID:26692440|PMID:26819281|PMID:26822149|PMID:26837502|PMID:26840078|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26917275|PMID:26933808|PMID:26934580|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27028212|PMID:27077911|PMID:27081525|PMID:27087319|PMID:27121310|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27156442|PMID:27158207|PMID:27260402|PMID:27282352|PMID:27284491|PMID:27302369|PMID:27311873|PMID:27329244|PMID:27343414|PMID:27354939|PMID:27425854|PMID:27435373|PMID:27443514|PMID:27449473|PMID:27449771|PMID:27498913|PMID:27535533|PMID:27574554|PMID:27600092|PMID:27621404|PMID:27623068|PMID:27647783|PMID:27684187|PMID:27696107|PMID:27705013|PMID:27717299|PMID:27760322|PMID:27806309|PMID:27852271|PMID:27878467|PMID:27882345|PMID:27930734|PMID:27978560|PMID:28002797|PMID:28050010|PMID:28051113|PMID:28057616|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135136|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28185118|PMID:28195393|PMID:28195569|PMID:28196074|PMID:28202063|PMID:28251689|PMID:28259476|PMID:28283864|PMID:28301460|PMID:28349240|PMID:28380452|PMID:28413499|PMID:28423518|PMID:28481359|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28533537|PMID:28548127|PMID:28569743|PMID:28576136|PMID:28595259|PMID:28608266|PMID:28640387|PMID:28663347|PMID:28706299|PMID:28717660|PMID:28726808|PMID:28744403|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28840378|PMID:28859360|PMID:28873162|PMID:28891274|PMID:28944238|PMID:28975465|PMID:29029407|PMID:29050249|PMID:29069792|PMID:29109117|PMID:29112017|PMID:29122597|PMID:29141224|PMID:29141268|PMID:29150975|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29237421|PMID:29245953|PMID:29251405|PMID:29338072|PMID:29351919|PMID:29360161|PMID:29367705|PMID:29368261|PMID:29368341|PMID:29371908|PMID:29386312|PMID:29406563|PMID:29419868|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29517769|PMID:29518763|PMID:29535845|PMID:29562902|PMID:29596542|PMID:29620724|PMID:29625052|PMID:29641532|PMID:29683816|PMID:29684080|PMID:29710228|PMID:29723602|PMID:29748005|PMID:29752822|PMID:29753700|PMID:29754767|PMID:29868112|PMID:29901124|PMID:29915797|PMID:29945567|PMID:29954149|PMID:29961768|PMID:2996804|PMID:29968043|PMID:29978187|PMID:29987844|PMID:30006736|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30102335|PMID:30111351|PMID:30113427|PMID:30122538|PMID:30148152|PMID:30152102 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30239046|PMID:30252101|PMID:30256815|PMID:30256826|PMID:30257133|PMID:30267214|PMID:30279230|PMID:30287922|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30426508|PMID:30443844|PMID:30487145|PMID:30523670|PMID:30569724|PMID:30580288|PMID:30613976|PMID:30620386|PMID:30666417|PMID:30680046|PMID:30696621|PMID:30705875|PMID:30809968|PMID:30814645|PMID:30833958|PMID:30877237|PMID:30897307|PMID:30980208|PMID:30981987|PMID:31019283|PMID:31054147|PMID:31062380|PMID:31069152|PMID:31113927|PMID:31133068|PMID:31159747|PMID:31175917|PMID:31186761|PMID:31269945|PMID:31273614|PMID:31278746|PMID:31283021|PMID:31285513|PMID:31360874|PMID:31372739|PMID:31403082|PMID:31409086|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31469036|PMID:31486992|PMID:31504825|PMID:31547467|PMID:31552911|PMID:31570899|PMID:31613886|PMID:31702654|PMID:31703593|PMID:31744909|PMID:31780696|PMID:31802619|PMID:31854063|PMID:31874108|PMID:31921681|PMID:31942411|PMID:31970404|PMID:32067438|PMID:32068069|PMID:32070411|PMID:32088909|PMID:32123317|PMID:32251017|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32369273|PMID:32390703|PMID:32543227|PMID:32547059|PMID:32547938|PMID:32552793|PMID:32590455|PMID:32635641|PMID:32658311|PMID:32720237|PMID:32751567|PMID:32754865|PMID:32829589|PMID:32854451|PMID:32885271|PMID:32957588|PMID:32980694|PMID:32984025|PMID:32992489|PMID:32994724|PMID:33009979|PMID:33011440|PMID:33087929|PMID:33193653|PMID:33242120|PMID:33279946|PMID:33294277|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33503190|PMID:33525650|PMID:33606809|PMID:33646313|PMID:33670833|PMID:33769591|PMID:33773808|PMID:33788735|PMID:33821390|PMID:33875564|PMID:33977078|PMID:34034685|PMID:34106356|PMID:34250417|PMID:34271781|PMID:34301788|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34388351|PMID:34426522|PMID:34479915|PMID:34545850|PMID:34646395|PMID:34666312|PMID:34707284|PMID:34754157|PMID:34771502|PMID:34855061|PMID:34897210|PMID:34921310|PMID:35070997|PMID:35098669|PMID:35128723|PMID:35142982|PMID:35189564|PMID:35205366|PMID:35260767|PMID:35264596|PMID:35430768|PMID:35534704|PMID:35979026|PMID:35980532|PMID:36097219|PMID:36225625|PMID:36243179|PMID:36356413|PMID:36586069|PMID:36900197|PMID:36988593|PMID:38054408|PMID:7485167|PMID:7490101|PMID:7524601|PMID:7562975|PMID:7661930|PMID:7746201|PMID:7833149|PMID:7833931|PMID:7833936|PMID:7853377|PMID:7951218|PMID:7959691|PMID:8020934|PMID:8103406|PMID:8111410|PMID:814096|PMID:8162022|PMID:8162051|PMID:8187091|PMID:8252630|PMID:8252631|PMID:8381579|PMID:8381580|PMID:8381581|PMID:8395941|PMID:8544194|PMID:8594558|PMID:8625067|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8844222|PMID:8888441|PMID:8910893|PMID:8940262|PMID:8940264|PMID:8941012|PMID:8956059|PMID:8990002|PMID:9067764|PMID:9101302|PMID:9288102|PMID:9298819|PMID:9341879|PMID:9342373|PMID:9343467|PMID:9375853|PMID:9382065|PMID:9452101|PMID:9476377|PMID:9487968|PMID:9494520|PMID:950360|PMID:9536098|PMID:9585599|PMID:9585611|PMID:9603437|PMID:9664575|PMID:9669663|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9765274|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9916927|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007188 Liver Neoplasms ISO RGD:736624 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neoplasm of the liver PMID:16569251|PMID:18199528|PMID:21859464|PMID:22703879|PMID:23159591|PMID:24728327|PMID:25186627|PMID:25326637|PMID:25479140|PMID:25741868|PMID:25980754|PMID:26173098|PMID:26252958|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26837502|PMID:26845104|PMID:26976419|PMID:27121310|PMID:28135048|PMID:28135145|PMID:28195569|PMID:28492532|PMID:32088909|PMID:32390703|PMID:32984025 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092804|PMID:21967605 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9007715 Endometrial Neoplasms ISO RGD:10166 D RGD:9068941 20200609 RGD PMID:24474556|REF_RGD_ID:13524584 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9008296 Eye Abnormalities ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16938888 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9008443 Colorectal Neoplasms ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10646887|PMID:10737795|PMID:12374230|PMID:12581900|PMID:12702169|PMID:1316610|PMID:1338764|PMID:1338904|PMID:14961559|PMID:15108286|PMID:15108288|PMID:1528264|PMID:15311282|PMID:16134147|PMID:1651563|PMID:17293347|PMID:17411426|PMID:17704924|PMID:17963004|PMID:18433509|PMID:18948947|PMID:18992635|PMID:19029688|PMID:19036155|PMID:19347965|PMID:20007843|PMID:20223039|PMID:20685668|PMID:20924072|PMID:21110124|PMID:21901162|PMID:22135120|PMID:2281069|PMID:22810696|PMID:22848674|PMID:22987206|PMID:23159591|PMID:23204322|PMID:23561487|PMID:23700467|PMID:24518971|PMID:24651453|PMID:24861525|PMID:25157968|PMID:25741868|PMID:25832318|PMID:26446593|PMID:26467025|PMID:26613750|PMID:26625971|PMID:27081525|PMID:28251689|PMID:28492532|PMID:29122597|PMID:29367705|PMID:29368261|PMID:30006736|PMID:31062380|PMID:31283021|PMID:7524601|PMID:7833931|PMID:8103406|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8941012|PMID:8990002|PMID:9494520|PMID:9824584|PMID:9950360 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9008952 Breast Cancer, Familial ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20301519|PMID:28492532 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:736624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24430131 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9009045 Gardner Syndrome ISO RGD:736624 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Gardner syndrome PMID:10094547|PMID:10982189|PMID:11317365|PMID:11466687|PMID:12007223|PMID:12173026|PMID:1316610|PMID:14633595|PMID:15024739|PMID:15311282|PMID:16134147|PMID:16317745|PMID:1651563|PMID:17135589|PMID:17293347|PMID:17963004|PMID:18199528|PMID:18433509|PMID:20223039|PMID:20513532|PMID:20649969|PMID:20685668|PMID:20924072|PMID:21643010|PMID:2164769|PMID:21779980|PMID:21859464|PMID:22000517|PMID:22135120|PMID:22703879|PMID:22987206|PMID:23159591|PMID:23561487|PMID:24033266|PMID:24728327|PMID:2478327|PMID:24790607|PMID:24841357|PMID:25142776|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:26613750|PMID:26845104|PMID:26917275|PMID:27081525|PMID:27435373|PMID:27930734|PMID:28492532|PMID:30897307|PMID:35979026|PMID:7485167|PMID:8162051|PMID:8381579|PMID:8381580|PMID:8594558|PMID:9375853|PMID:9487968|PMID:9824584|PMID:9916927 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine PMID:25741868|PMID:26530882|PMID:28492532 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:7240710 20200226 OMIM 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:30152102|PMID:30267214|PMID:30426508|PMID:30487145|PMID:30814645|PMID:30897307|PMID:30980208|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31702654|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10598803|PMID:10679643|PMID:10713886|PMID:10737725|PMID:10768871|PMID:10923044|PMID:10938175|PMID:10982189|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11818965|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12537656|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14578138|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14695993|PMID:14966376|PMID:14999774|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15122587|PMID:15133491|PMID:15266213|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16650078|PMID:16875934|PMID:17119068|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17920230|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18612690|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19474113|PMID:19701947|PMID:19793053|PMID:20223039|PMID:20233475|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21153778|PMID:21859464|PMID:21901162|PMID:21995949|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22875147|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23846443|PMID:23896379|PMID:23910461|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24082139|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25203624|PMID:25479140|PMID:25490678|PMID:25559809|PMID:25604157|PMID:25637381|PMID:25710373|PMID:25741868|PMID:25742471|PMID:25801821|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26320869|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26508446|PMID:26517685|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26900293|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27077911|PMID:27081525|PMID:27124905|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27284491|PMID:27329244|PMID:27443514|PMID:27600092|PMID:27621404|PMID:27696107|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28283864|PMID:28380452|PMID:28492532|PMID:28502729|PMID:28548127|PMID:28717660|PMID:28726808|PMID:28749474|PMID:28805986|PMID:28828701|PMID:28873162|PMID:29237405|PMID:29371908|PMID:29386312|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31269945|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31702654|PMID:31942411|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33309985|PMID:33332384|PMID:33352971|PMID:33436027|PMID:33773808|PMID:35142982|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8834176|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16875934|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25326637|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28595259|PMID:28717660|PMID:28749474|PMID:28805986|PMID:28828701|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33352971|PMID:34426522|PMID:34646395|PMID:35142982|PMID:35264596|PMID:36243179|PMID:36586069|PMID:36988593|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 8829829 Apc APC regulator of WNT signaling pathway gene DOID:9256 colorectal cancer ISO RGD:736624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10083733|PMID:10094547|PMID:10439961|PMID:10679643|PMID:10713886|PMID:10768871|PMID:10923044|PMID:10938175|PMID:11001924|PMID:11159880|PMID:11207040|PMID:11221825|PMID:11247896|PMID:11267860|PMID:11317365|PMID:11354631|PMID:11551102|PMID:11606402|PMID:11720476|PMID:11748858|PMID:11904335|PMID:11933206|PMID:11960572|PMID:12173026|PMID:12173321|PMID:12357334|PMID:12533824|PMID:12621137|PMID:12901799|PMID:1316610|PMID:1324223|PMID:1338764|PMID:14616385|PMID:14624392|PMID:14633595|PMID:14966376|PMID:15024739|PMID:15108286|PMID:15108288|PMID:15300853|PMID:15311282|PMID:15712637|PMID:15929773|PMID:15951963|PMID:16088911|PMID:16134147|PMID:16228836|PMID:16292097|PMID:16317745|PMID:1651563|PMID:16875934|PMID:17135589|PMID:17293347|PMID:17411426|PMID:17556698|PMID:17785554|PMID:17854661|PMID:17963004|PMID:18199528|PMID:18343606|PMID:18433509|PMID:18770064|PMID:18844223|PMID:19029688|PMID:19331226|PMID:19444466|PMID:1944466|PMID:19793053|PMID:20223039|PMID:20301519|PMID:20434453|PMID:20685668|PMID:20924072|PMID:21859464|PMID:21901162|PMID:22135120|PMID:22703879|PMID:22722839|PMID:22995991|PMID:23085758|PMID:23159591|PMID:23292937|PMID:23561487|PMID:23576677|PMID:23896379|PMID:23970361|PMID:24033266|PMID:24039736|PMID:24055113|PMID:24310308|PMID:24326041|PMID:24416237|PMID:24448499|PMID:24599579|PMID:24618431|PMID:24728327|PMID:24841357|PMID:25142776|PMID:25178641|PMID:25186627|PMID:25326637|PMID:25604157|PMID:25637381|PMID:25741868|PMID:25925381|PMID:25980754|PMID:25992589|PMID:26187149|PMID:26300997|PMID:26309368|PMID:26314409|PMID:26332594|PMID:26394139|PMID:26421687|PMID:26467025|PMID:26493165|PMID:26580448|PMID:26613750|PMID:26625971|PMID:26681312|PMID:26822149|PMID:26845104|PMID:26862949|PMID:26933808|PMID:26976419|PMID:27000756|PMID:27009842|PMID:27081525|PMID:27146957|PMID:27150160|PMID:27153395|PMID:27930734|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28135136|PMID:28135145|PMID:28196074|PMID:28492532|PMID:28595259|PMID:28717660|PMID:28749474|PMID:28805986|PMID:28828701|PMID:29371908|PMID:29478780|PMID:29506128|PMID:29641532|PMID:29684080|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30267214|PMID:30306255|PMID:30426508|PMID:30487145|PMID:30613976|PMID:30620386|PMID:30814645|PMID:30877237|PMID:30897307|PMID:30980208|PMID:31019283|PMID:31159747|PMID:31285513|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31942411|PMID:32123317|PMID:32590455|PMID:32658311|PMID:32854451|PMID:32980694|PMID:32994724|PMID:33193653|PMID:33332384|PMID:33352971|PMID:34426522|PMID:34646395|PMID:35142982|PMID:35264596|PMID:35534704|PMID:36243179|PMID:36586069|PMID:36988593|PMID:38054408|PMID:7833149|PMID:8162022|PMID:8187091|PMID:8381579|PMID:8730280|PMID:8835324|PMID:8940262|PMID:8940264|PMID:8990002|PMID:9288102|PMID:9585599|PMID:9724771|PMID:9731522|PMID:9731533|PMID:9751605|PMID:9824584|PMID:9831355|PMID:9869602|PMID:9869603|PMID:9869620|PMID:9950360|PMID:9973276 8829873 Znf639 zinc finger protein 639 gene DOID:0111546 Currarino syndrome ISO RGD:1353900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8829873 Znf639 zinc finger protein 639 gene DOID:630 genetic disease ISO RGD:1353900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829873 Znf639 zinc finger protein 639 gene DOID:6457 Cowden syndrome ISO RGD:1353900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 8829884 Esrp2 epithelial splicing regulatory protein 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8829884 Esrp2 epithelial splicing regulatory protein 2 gene DOID:0080600 COVID-19 ISO RGD:1605047 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8829884 Esrp2 epithelial splicing regulatory protein 2 gene DOID:630 genetic disease ISO RGD:1605047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829884 Esrp2 epithelial splicing regulatory protein 2 gene DOID:9296 cleft lip ISO RGD:1605047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:29805042 8829910 Ankrd55 ankyrin repeat domain 55 gene DOID:630 genetic disease ISO RGD:1605952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829910 Ankrd55 ankyrin repeat domain 55 gene DOID:7148 rheumatoid arthritis ISO RGD:1605952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8829910 Ankrd55 ankyrin repeat domain 55 gene DOID:9001341 Chloracne ISO RGD:1605952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8829910 Ankrd55 ankyrin repeat domain 55 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8829933 St3gal6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 gene DOID:630 genetic disease ISO RGD:1349452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829949 Tomm34 translocase of outer mitochondrial membrane 34 gene DOID:2234 focal epilepsy ISO RGD:1319142 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8829949 Tomm34 translocase of outer mitochondrial membrane 34 gene DOID:630 genetic disease ISO RGD:1319142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829949 Tomm34 translocase of outer mitochondrial membrane 34 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1319142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8829960 Klf16 KLF transcription factor 16 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1314308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8829960 Klf16 KLF transcription factor 16 gene DOID:5339 cyclic hematopoiesis ISO RGD:1314308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8829960 Klf16 KLF transcription factor 16 gene DOID:630 genetic disease ISO RGD:1314308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829960 Klf16 KLF transcription factor 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:0050699 Dent disease ISO RGD:1350136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dent disease PMID:15108291|PMID:21031565|PMID:21971085|PMID:27398910|PMID:29300302 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1350136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:23047739|PMID:25741868|PMID:26694549|PMID:28492532 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1350136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:0080600 COVID-19 ISO RGD:1350136 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350136 D RGD:7240710 20180130 OMIM 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1350136 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome PMID:10364518|PMID:10767176|PMID:10923037|PMID:11149618|PMID:14981612|PMID:15627218|PMID:16199547|PMID:16381338|PMID:17142121|PMID:17162149|PMID:17384968|PMID:17576681|PMID:17765681|PMID:18500547|PMID:19390221|PMID:19795375|PMID:19902262|PMID:20301653|PMID:21031565|PMID:21225285|PMID:21233288|PMID:21666675|PMID:22381590|PMID:22965764|PMID:23047739|PMID:24081861|PMID:24711037|PMID:24912603|PMID:25305077|PMID:25326635|PMID:25480730|PMID:25741868|PMID:26694549|PMID:27059748|PMID:27625797|PMID:27708066|PMID:28492532|PMID:28669993|PMID:28803024|PMID:28973083|PMID:29300302|PMID:30773290|PMID:31672324|PMID:31674016|PMID:32712215|PMID:34125233|PMID:34139759|PMID:34586410|PMID:34680992|PMID:35006361|PMID:35919034|PMID:8504307|PMID:9199559|PMID:9536098|PMID:9632163|PMID:9682219|PMID:9788721 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:1059 intellectual disability ISO RGD:1350136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:12849 autistic disorder ISO RGD:1350136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:630 genetic disease ISO RGD:1350136 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19390221|PMID:21031565|PMID:22381590|PMID:23047739|PMID:25326635|PMID:25480730|PMID:25741868|PMID:26694549|PMID:28492532|PMID:34586410|PMID:35006361 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:83 cataract ISO RGD:1350136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:23047739|PMID:25741868|PMID:26694549|PMID:28492532 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:9007045 Dent Disease 2 ISO RGD:1350136 D RGD:7240710 20180130 OMIM 8829966 Ocrl OCRL inositol polyphosphate-5-phosphatase gene DOID:9007045 Dent Disease 2 ISO RGD:1350136 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dent disease type 2 PMID:1321346|PMID:15627218|PMID:16381338|PMID:17162149|PMID:17384968|PMID:19390221|PMID:21031565|PMID:22381590|PMID:23047739|PMID:24081861|PMID:25480730|PMID:25741868|PMID:26694549|PMID:27625797|PMID:27708066|PMID:28018608|PMID:28492532|PMID:28803024|PMID:31674016|PMID:34125233|PMID:34139759|PMID:8504307 8829995 Batf3 basic leucine zipper ATF-like transcription factor 3 gene DOID:1024 leprosy ISO RGD:1602111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25642632 8829995 Batf3 basic leucine zipper ATF-like transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1602111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8829995 Batf3 basic leucine zipper ATF-like transcription factor 3 gene DOID:630 genetic disease ISO RGD:1602111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8829995 Batf3 basic leucine zipper ATF-like transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8830000 Fbxo33 F-box protein 33 gene DOID:630 genetic disease ISO RGD:1316797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830000 Fbxo33 F-box protein 33 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316797 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8830009 Col26a1 collagen type XXVI alpha 1 chain gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8830009 Col26a1 collagen type XXVI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1345849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830029 Commd5 COMM domain containing 5 gene DOID:630 genetic disease ISO RGD:1348607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830038 Ctxn1 cortexin 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1353903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8830038 Ctxn1 cortexin 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1353903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8830038 Ctxn1 cortexin 1 gene DOID:630 genetic disease ISO RGD:1353903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830044 Fgf16 fibroblast growth factor 16 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8830044 Fgf16 fibroblast growth factor 16 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:733065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8830044 Fgf16 fibroblast growth factor 16 gene DOID:0111813 syndactyly type 8 ISO RGD:733065 D RGD:7240710 20180130 OMIM 8830044 Fgf16 fibroblast growth factor 16 gene DOID:0111813 syndactyly type 8 ISO RGD:733065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 8 PMID:23709756|PMID:24878828 8830044 Fgf16 fibroblast growth factor 16 gene DOID:12849 autistic disorder ISO RGD:733065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8830051 Nxnl2 nucleoredoxin like 2 gene DOID:630 genetic disease ISO RGD:1351751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737503 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:10898110|PMID:12843198|PMID:14594182|PMID:15064320|PMID:19342739|PMID:20736251|PMID:22453073|PMID:25605705|PMID:25741868|PMID:25899528|PMID:28492532|PMID:32713132 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:0060236 xanthinuria ISO RGD:737503 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: XDH deficiency 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:0070453 xanthinuria type II ISO RGD:737503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Xanthinuria type II PMID:18384427|PMID:28492532 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:737503 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:737503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:28492532 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:10283 prostate cancer ISO RGD:737503 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:12949937|REF_RGD_ID:2302560 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:737503 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A49T (human) PMID:10501358|REF_RGD_ID:4891929 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:10892 hypospadias susceptibility ISO RGD:737503 D RGD:9068941 20200609 RGD protein:missense mutations:cds:p.R227Q, p.F186L (human) PMID:10514539|REF_RGD_ID:1600059 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:11132 prostatic hypertrophy ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20823678 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:12700 hyperprolactinemia ISO RGD:621480 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (rat) PMID:18379994|REF_RGD_ID:4891877 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:1909 melanoma ISO RGD:737503 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:1924 hypogonadism ISO RGD:737503 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:12699446|PMID:16181229|PMID:17609295|PMID:21147889|PMID:25266188|PMID:25741868|PMID:27070133|PMID:28492532|PMID:8110760 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:289 endometriosis ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21232532 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:3459 breast carcinoma ISO RGD:737503 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:15212687|REF_RGD_ID:2302558 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:630 genetic disease ISO RGD:737503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:737503 D RGD:7240710 20180130 OMIM 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9001561 Pseudovaginal Perineoscrotal Hypospadias ISO RGD:737503 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 PMID:10501358|PMID:10718838|PMID:10898110|PMID:10999800|PMID:1147889|PMID:11869378|PMID:12576851|PMID:12699446|PMID:12843198|PMID:1406794|PMID:14560315|PMID:14594182|PMID:15064320|PMID:1522235|PMID:15266301|PMID:15528927|PMID:15770495|PMID:16181229|PMID:16199547|PMID:17576681|PMID:17609295|PMID:18097518|PMID:18314109|PMID:18350250|PMID:18384427|PMID:18391525|PMID:18469342|PMID:18717241|PMID:19342739|PMID:1944596|PMID:19492581|PMID:20019388|PMID:20190539|PMID:20493473|PMID:20583543|PMID:20736251|PMID:20850730|PMID:21147889|PMID:21402750|PMID:2154055|PMID:21540559|PMID:21631525|PMID:21714467|PMID:22272144|PMID:22362597|PMID:22435390|PMID:22453073|PMID:22876553|PMID:23329752|PMID:23633205|PMID:24412121|PMID:24665940|PMID:24737579|PMID:24885102|PMID:25248670|PMID:25266188|PMID:25605705|PMID:25741868|PMID:25899528|PMID:26446026|PMID:2665940|PMID:26980298|PMID:27070133|PMID:27854360|PMID:27899157|PMID:28110336|PMID:28492532|PMID:28544750|PMID:28663096|PMID:28938747|PMID:29798939|PMID:30132287|PMID:30668521|PMID:30968598|PMID:31031332|PMID:31130284|PMID:31186340|PMID:31219235|PMID:31277073|PMID:31885560|PMID:32346305|PMID:32371413|PMID:32567554|PMID:32596280|PMID:32713132|PMID:32894851|PMID:33516834|PMID:33742552|PMID:33775494|PMID:35331321|PMID:35386187|PMID:36617173|PMID:431680|PMID:7554313|PMID:7608269|PMID:8110760|PMID:8262007|PMID:835597|PMID:8626825|PMID:8706317|PMID:8723114|PMID:8768837|PMID:8784107|PMID:9066886|PMID:9135696|PMID:9208814|PMID:9467575|PMID:9536098|PMID:9745434|PMID:9843052 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16998812|PMID:17136762|PMID:17823934|PMID:18306354|PMID:18500220 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9003503 Penis Agenesis ISO RGD:737503 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Micropenis PMID:10898110|PMID:12843198|PMID:14594182|PMID:15064320|PMID:19342739|PMID:20736251|PMID:22453073|PMID:25605705|PMID:25741868|PMID:25899528|PMID:28492532|PMID:32713132 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:737503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:9351 diabetes mellitus ISO RGD:621480 D RGD:9068941 20200609 RGD PMID:12749121|REF_RGD_ID:1600067 8830058 Srd5a2 steroid 5 alpha-reductase 2 gene DOID:987 alopecia ISO RGD:737503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17136762 8830067 Dlg5 discs large MAGUK scaffold protein 5 gene DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 ISO RGD:1318707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:28492532 8830067 Dlg5 discs large MAGUK scaffold protein 5 gene DOID:630 genetic disease ISO RGD:1318707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830067 Dlg5 discs large MAGUK scaffold protein 5 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1318707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 8830119 Scg2 secretogranin II gene DOID:630 genetic disease ISO RGD:734327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830119 Scg2 secretogranin II gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8830130 Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8830130 Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 gene DOID:630 genetic disease ISO RGD:1322348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830164 Twf1 twinfilin actin binding protein 1 gene DOID:0060058 lymphoma ISO RGD:1323555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783987 8830164 Twf1 twinfilin actin binding protein 1 gene DOID:630 genetic disease ISO RGD:1323555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:733100 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:0050873 follicular lymphoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12855623|PMID:3287162 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:0050873 follicular lymphoma ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:3287162|REF_RGD_ID:734639 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:0050873 follicular lymphoma susceptibility ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:translocation: ;t(14;18)(q32;q21) PMID:16671111|REF_RGD_ID:1599473 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26239085|PMID:3287162 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:12628841|REF_RGD_ID:2289659 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:0060108 brain glioma treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:27255231|PMID:29324390|REF_RGD_ID:13792502|REF_RGD_ID:13792598 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:733100 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:733100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:0111142 oligomeganephronia ISO RGD:10230 D RGD:9068941 20220825 MouseDO 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:10283 prostate cancer ISO RGD:733100 D RGD:9068941 20201023 RGD PMID:16984224|PMID:18084610|REF_RGD_ID:2292512|REF_RGD_ID:2293015 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:10283 prostate cancer disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:17850375|REF_RGD_ID:2293017 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:10534 stomach cancer treatment ISO RGD:733100 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:16265626|PMID:17639989|REF_RGD_ID:10054047|REF_RGD_ID:2293073 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18077176 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, membrane PMID:9507158|REF_RGD_ID:10053642 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:10652 Alzheimer's disease treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21585051|PMID:26897372|PMID:29587274|PMID:29777699|REF_RGD_ID:10054049|REF_RGD_ID:11522767|REF_RGD_ID:13782186|REF_RGD_ID:13782188 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:10763 hypertension ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10075388 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:10763 hypertension treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:20065158|REF_RGD_ID:10053702 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:10808 gastric ulcer treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:24378970|REF_RGD_ID:10053695 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:10941 intracranial aneurysm treatment ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:25316629|REF_RGD_ID:11522723 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:11054 urinary bladder cancer ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18094410|REF_RGD_ID:2293014 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:11054 urinary bladder cancer ISO RGD:733100 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:11054 urinary bladder cancer severity ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18342927|REF_RGD_ID:2292910 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:11476 osteoporosis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22648569|REF_RGD_ID:10054093 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:11612 polycystic ovary syndrome ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:21062263|REF_RGD_ID:10054496 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:11612 polycystic ovary syndrome ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062263 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:cardiomyocyte PMID:25820375|REF_RGD_ID:13792650 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733100 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:25209900|REF_RGD_ID:11558015 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:12336 male infertility ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24723216 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:127 leiomyoma ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:16962107|REF_RGD_ID:1643479 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:127 leiomyoma treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23789224|REF_RGD_ID:10054112 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:12849 autistic disorder ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11814262|PMID:20375269 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:12858 Huntington's disease ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:11299004|REF_RGD_ID:10054041 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:12930 dilated cardiomyopathy ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:1307 dementia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21473886|REF_RGD_ID:10054040 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:14018 alcoholic liver cirrhosis ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:27131981|REF_RGD_ID:13792503 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:14227 azoospermia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20610805 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:1686 glaucoma ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:optic nerve, retina PMID:24357921|REF_RGD_ID:10054098 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:2199 D RGD:9068941 20200609 RGD Protein:increased expression:tongue;associated with mouth neoplasms PMID:16309543|REF_RGD_ID:1599477 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:1790 malignant mesothelioma ISO RGD:733100 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:16850164 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:1824 status epilepticus ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:18076646|REF_RGD_ID:2293065 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:1824 status epilepticus treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22842798|REF_RGD_ID:11522734 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:1875 impotence ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:12394778|REF_RGD_ID:1579980 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:1875 impotence ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12394778 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:1875 impotence treatment ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:1909 melanoma severity ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:lymph node (human) PMID:8783649|REF_RGD_ID:11526106 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:1936 atherosclerosis ISO RGD:2199 D RGD:9068941 20230615 RGD associated with type 2 diabetes mellitus; mRNA, protein:increased expression:thoracic aorta (rat) PMID:33889291|REF_RGD_ID:329849122 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:2055 post-traumatic stress disorder ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23381833|REF_RGD_ID:10054113 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:219 colon cancer treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21214291|REF_RGD_ID:10053668 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:224 transient cerebral ischemia ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:18083315|REF_RGD_ID:2290557 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:224 transient cerebral ischemia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:16732092|PMID:22509406|REF_RGD_ID:11522725|REF_RGD_ID:11561910 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:2256 osteochondrodysplasia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17954590 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:2316 brain ischemia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:15585409|REF_RGD_ID:11522731 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:234 colon adenocarcinoma treatment ISO RGD:733100 D RGD:9068941 20210528 RGD human cells in mouse model PMID:32504672|REF_RGD_ID:125097526 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:2560 morphine dependence treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:24906198|REF_RGD_ID:10054248 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:2671 transitional cell carcinoma ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18047955|REF_RGD_ID:1643477 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:2741 bilirubin metabolic disorder ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:platelet (rat) PMID:26459859|REF_RGD_ID:11522763 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:2773 contact dermatitis ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:2841 asthma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18357729 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:289 endometriosis ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17693084|REF_RGD_ID:2293018 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:289 endometriosis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23406865|PMID:25937801|REF_RGD_ID:11353846|REF_RGD_ID:7257718 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:299 adenocarcinoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:3021 acute kidney failure ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20037173|REF_RGD_ID:10053672 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:3042 allergic contact dermatitis ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:305 carcinoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:10230 D RGD:9068941 20200609 RGD PMID:10582606|REF_RGD_ID:13506907 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23143152|REF_RGD_ID:10054501 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:3721 plasmacytoma susceptibility ISO RGD:733100 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:14695177|REF_RGD_ID:11526108 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:4450 renal cell carcinoma ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18283311|REF_RGD_ID:2298896 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:17482919|REF_RGD_ID:2293019 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:4468 clear cell adenocarcinoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9754764 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:4481 allergic rhinitis ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal mucosa (rat) PMID:15362690|REF_RGD_ID:11522724 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:12234300|REF_RGD_ID:1579984 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:733100 D RGD:9068941 20210521 RGD DNA:SNPs:3'utr: (rs720321, rs17757541) (human) PMID:21472143|REF_RGD_ID:126925218 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:5295 intestinal disease treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:24228095|REF_RGD_ID:10058972 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:SNP: :rs2279115(human) PMID:26311051|REF_RGD_ID:13673911 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:5485 synovial sarcoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16450387 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471820 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:5844 myocardial infarction ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:6000 congestive heart failure treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:18097624|PMID:29746994|REF_RGD_ID:10054097|REF_RGD_ID:13792577 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:630 genetic disease ISO RGD:733100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:6432 pulmonary hypertension ISO RGD:2199 D RGD:9068941 20200609 RGD protein:decreased expression:heart right ventricle PMID:18441466|REF_RGD_ID:2293022 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:657 adenoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192|PMID:10426811 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:684 hepatocellular carcinoma ISO RGD:10230 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2199 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:783 end stage renal disease treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:20424483|REF_RGD_ID:11522730 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:19217321|REF_RGD_ID:10053643 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:chondrocyte PMID:16864079|REF_RGD_ID:10054095 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:8466 retinal degeneration ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:24166353|REF_RGD_ID:11522757 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:8466 retinal degeneration ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8692941 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:8466 retinal degeneration treatment ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:10704489|REF_RGD_ID:8554863 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:8927 learning disability ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17967740 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18561741|REF_RGD_ID:2298889 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000011 Gallbladder Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16904648 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:27256506|REF_RGD_ID:13792677 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000081 Lymphatic Metastasis ISO RGD:733100 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:lymph node PMID:18217456|REF_RGD_ID:2293013 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000099 Experimental Colitis treatment ISO RGD:2199 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000117 Esophageal Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000156 Metaplasia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12704018 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:26769958|REF_RGD_ID:13792505 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:26163325|REF_RGD_ID:13782347 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000918 Disease Progression ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686|PMID:21750559 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:733100 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:16826579|REF_RGD_ID:2293020 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:733100 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell PMID:12810203|REF_RGD_ID:2293021 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000998 Brain Injuries ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:18093155|REF_RGD_ID:2293059 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9000998 Brain Injuries treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:20888848|REF_RGD_ID:10054247 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9001390 Testis Reperfusion Injury ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:26754107|REF_RGD_ID:11555349 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17938867|REF_RGD_ID:2293129 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:24218972|REF_RGD_ID:10054116 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811|PMID:28100771 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9001708 Hemorrhagic Shock ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine PMID:17693937|REF_RGD_ID:2293072 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:25535961|REF_RGD_ID:11522737 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:10230 D RGD:9068941 20230525 RGD PMID:34144219|REF_RGD_ID:329812011 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21092002|REF_RGD_ID:5134995 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease PMID:22847887|REF_RGD_ID:10053710 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750559|PMID:23770605 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-938C>A (human) PMID:17959858|REF_RGD_ID:11526105 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-938C>A (human) PMID:16960146|REF_RGD_ID:11526104 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:B cell (human) PMID:20001236|REF_RGD_ID:11526110 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia treatment ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:17296974|REF_RGD_ID:11522735 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22932950|REF_RGD_ID:10054114 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002245 Intestinal Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:29713367|REF_RGD_ID:13792581 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:10230 D RGD:9068941 20200609 RGD PMID:18317887|REF_RGD_ID:2291908 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16733517 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:20131282|REF_RGD_ID:6907382 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002395 Hypothermia ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland ventral lobe (rat) PMID:25996932|REF_RGD_ID:10402397 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002457 Experimental Arthritis ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:21199477|REF_RGD_ID:10054249 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22978269|REF_RGD_ID:10054498 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002644 Premature Aging treatment ISO RGD:10230 D RGD:9068941 20200609 RGD PMID:21359432|REF_RGD_ID:6480478 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002676 Cerebral Hemorrhage ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721362 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18006758|REF_RGD_ID:2298897 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002909 Oxygen-Induced Retinopathy ameliorates ISO RGD:10230 D RGD:9068941 20230525 RGD PMID:35445044|REF_RGD_ID:329812014 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:17404573|REF_RGD_ID:2293078 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10223192|PMID:17404573|PMID:19147571 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9002955 Nerve Degeneration ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11146106|PMID:17967740 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2199 D RGD:9068941 20230128 RGD PMID:21189961|PMID:24089674|PMID:29635023|REF_RGD_ID:10054502|REF_RGD_ID:13782292|REF_RGD_ID:155882465 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9004009 Reperfusion Injury ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15449323 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9004038 Kashin-Beck Disease ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:articular cartilage, chondrocyte PMID:16511931|REF_RGD_ID:10054094 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9004610 Acute Lung Injury ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:20663300|REF_RGD_ID:10054109 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9005181 Multi-Infarct Dementia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:18938189|REF_RGD_ID:10054050 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22668016|PMID:23404339|REF_RGD_ID:10053670|REF_RGD_ID:10054128 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9005539 Familial Prostate Cancer ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9005562 AIDS-Related Kaposi Sarcoma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10861090 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:embryo PMID:15649569|REF_RGD_ID:1599491 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18991018|REF_RGD_ID:2311240 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961|PMID:23090186 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9005749 Necrosis ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11781163|PMID:16532269 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9005873 Tongue Neoplasms ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:12167434|REF_RGD_ID:8547871 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9005930 Endotoxemia ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:diaphragm PMID:23940949|REF_RGD_ID:10054120 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9006169 Head and Neck Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18566236 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:18221257|REF_RGD_ID:2293026 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:29285062|REF_RGD_ID:13792599 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23953793|REF_RGD_ID:10054119 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:733100 D RGD:9068941 20201218 RGD protein:increased expression:natural killer cell, T cell (human) PMID:26541527|REF_RGD_ID:40902860 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:10230 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:myocardium (mouse) PMID:21474815|REF_RGD_ID:11522727 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21296063|REF_RGD_ID:10053697 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22014268|REF_RGD_ID:10054500 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:10230 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9007429 Soft Tissue Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16450387 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22666341|PMID:2543982|PMID:2848196 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:733100 D RGD:9068941 20200609 RGD PMID:18386458|REF_RGD_ID:2298890 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9007730 Burns treatment ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:22153006|REF_RGD_ID:10054126 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:16289365|REF_RGD_ID:1599484 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2199 D RGD:9068941 20220923 RGD PMID:20821058|PMID:23364609|PMID:31583047|REF_RGD_ID:10053674|REF_RGD_ID:11561911|REF_RGD_ID:155230831 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9008023 Memory Disorders ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17967740 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9008091 Optic Nerve Injuries ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:optic nerve, retina PMID:24357921|REF_RGD_ID:10054098 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949393 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9008622 Adrenal Insufficiency ISO RGD:2199 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex PMID:21161352|REF_RGD_ID:6482719 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9008824 Sarcopenia ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA:decreased expression:plantaris PMID:17029665|REF_RGD_ID:2325745 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9008939 Breast Neoplasms ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517783|PMID:16954440|PMID:23621182 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9008939 Breast Neoplasms ISO RGD:733100 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:increased expression:breast PMID:18427947|REF_RGD_ID:2292909 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-938C>A PMID:17908970|REF_RGD_ID:2293016 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:18430249|REF_RGD_ID:2292908 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9119 acute myeloid leukemia ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23906301 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9119 acute myeloid leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:snp:exon:c.+21A>G (rs1801018) (human) PMID:19520430|REF_RGD_ID:11526111 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9119 acute myeloid leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD ratio with Flt3, Kit;mRNA:decreased expression:mononuclear cell (human) PMID:25216797|REF_RGD_ID:11526109 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:733100 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-938C>A (human) PMID:25957891|REF_RGD_ID:11526107 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:733100 D RGD:9068941 20200609 RGD protein:increased expression:epithelium of nasopharynx (human) PMID:12099337|REF_RGD_ID:11526103 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9286 priapism ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:erectile tissue (rat) PMID:21085184|REF_RGD_ID:10412315 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:2199 D RGD:9068941 20200609 RGD PMID:23032698|REF_RGD_ID:10053698 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961|PMID:31626838 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9538 multiple myeloma ISO RGD:733100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12429644 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9655 oral mucosa leukoplakia ISO RGD:2199 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:12167434|REF_RGD_ID:8547871 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:733100 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:25982455|REF_RGD_ID:11076595 8830182 Bcl2 BCL2 apoptosis regulator gene DOID:9970 obesity ISO RGD:2199 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart left ventricle PMID:18202171|REF_RGD_ID:2293027 8830207 Fam193a family with sequence similarity 193 member A gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8830207 Fam193a family with sequence similarity 193 member A gene DOID:1856 cherubism ISO RGD:1320077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8830207 Fam193a family with sequence similarity 193 member A gene DOID:630 genetic disease ISO RGD:1320077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830249 Fbxw2 F-box and WD repeat domain containing 2 gene DOID:630 genetic disease ISO RGD:1321373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830285 Gpbp1l1 GC-rich promoter binding protein 1 like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8830285 Gpbp1l1 GC-rich promoter binding protein 1 like 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8830285 Gpbp1l1 GC-rich promoter binding protein 1 like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8830285 Gpbp1l1 GC-rich promoter binding protein 1 like 1 gene DOID:13938 amenorrhea ISO RGD:1605641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8830285 Gpbp1l1 GC-rich promoter binding protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1605641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830301 Slc39a12 solute carrier family 39 member 12 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1319582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8830301 Slc39a12 solute carrier family 39 member 12 gene DOID:1909 melanoma ISO RGD:1319582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8830301 Slc39a12 solute carrier family 39 member 12 gene DOID:630 genetic disease ISO RGD:1319582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830301 Slc39a12 solute carrier family 39 member 12 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1309305 D RGD:9068941 20200609 RGD PMID:26258299|REF_RGD_ID:10401832 8830301 Slc39a12 solute carrier family 39 member 12 gene DOID:9006102 Right Ventricular Hypertrophy severity ISO XCO:0000010 D RGD:9068941 20201211 RGD PMID:26258299|REF_RGD_ID:10401832 8830301 Slc39a12 solute carrier family 39 member 12 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:1309305 D RGD:9068941 20200609 RGD PMID:26258299|REF_RGD_ID:10401832 8830301 Slc39a12 solute carrier family 39 member 12 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced severity ISO XCO:0000010 D RGD:9068941 20201211 RGD PMID:26258299|REF_RGD_ID:10401832 8830301 Slc39a12 solute carrier family 39 member 12 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1319582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:735341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:12162767|REF_RGD_ID:8662376 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:10873097|REF_RGD_ID:8662371 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:15817070|REF_RGD_ID:8662374 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma no_association ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism: :98C>A(human) PMID:18251939|REF_RGD_ID:8662395 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:149A>G(human) PMID:10873097|REF_RGD_ID:8662371 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:23857431|REF_RGD_ID:10043364 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12628841|REF_RGD_ID:2289659 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:0060224 atrial fibrillation ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:0060224 atrial fibrillation ISO RGD:735341 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:atriim PMID:16043935|REF_RGD_ID:8662360 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:16462758|REF_RGD_ID:8662844 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:20369488|REF_RGD_ID:8547768 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:10283 prostate cancer ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:18237448|REF_RGD_ID:2289639 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:1070 primary open angle glaucoma no_association ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S31R(human) PMID:15807891|REF_RGD_ID:8661806 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S31R(human) PMID:14738489|REF_RGD_ID:8661807 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:1073 renal hypertension ISO RGD:69328 D RGD:9068941 20200609 RGD protein:decreased expression:vascular associated smooth muscle cell PMID:17439406|REF_RGD_ID:2289672 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:10964 cholesteatoma of middle ear ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression: PMID:23324739|REF_RGD_ID:8661795 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:10966 lipoid nephrosis treatment ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:24119646|REF_RGD_ID:10043363 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:11054 urinary bladder cancer ISO RGD:735341 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:11335 sarcoidosis ISO RGD:735341 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:12885947|REF_RGD_ID:8662819 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:732911 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea,nucleus: PMID:22956607|REF_RGD_ID:8661808 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:22956607|REF_RGD_ID:8661808 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:12236 primary biliary cholangitis ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell: PMID:18456456|REF_RGD_ID:8662434 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:12689 acoustic neuroma ISO RGD:735341 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:myelinated nerve: PMID:20600642|REF_RGD_ID:8661792 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:1749 squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD associated with Varicose Ulcer;protein:increased expression:skin: PMID:11028856|REF_RGD_ID:8662856 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:9655223|REF_RGD_ID:8662356 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:1790 malignant mesothelioma ISO RGD:735341 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:11453316 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:1909 melanoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:22311377|REF_RGD_ID:8662421 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:1909 melanoma ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:9194578|REF_RGD_ID:8662817 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:2615 papilloma ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:10430900|REF_RGD_ID:8662432 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:2615 papilloma ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:2615 papilloma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:11684723|REF_RGD_ID:8662351 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:2671 transitional cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:18640142 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:15646812|REF_RGD_ID:8662837 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:305 carcinoma ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:10430900|REF_RGD_ID:8662432 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:3070 high grade glioma severity ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:18791688|REF_RGD_ID:13702128 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:3070 high grade glioma severity ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:20844987|REF_RGD_ID:13702125 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:3070 high grade glioma treatment ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:9144534|REF_RGD_ID:13702129 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735341 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35303175 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:3114 serous cystadenocarcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:16012716|REF_RGD_ID:8662305 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:3179 inverted papilloma ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:19863319|PMID:21608063|REF_RGD_ID:8662353|REF_RGD_ID:8662357 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:17671118|REF_RGD_ID:8662851 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15375580 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735341 D RGD:9068941 20210910 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:4448 macular degeneration ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:20054800|REF_RGD_ID:10043353 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:4905 pancreatic carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:9252195|REF_RGD_ID:8662427 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:5517 stomach carcinoma disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:11745255|REF_RGD_ID:8662389 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:557 kidney disease ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:5759 sebaceous gland neoplasm ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:12354803|REF_RGD_ID:8662839 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:pituitary gland: PMID:18981426|REF_RGD_ID:8662821 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:630 genetic disease ISO RGD:735341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:6432 pulmonary hypertension treatment ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:24412385|REF_RGD_ID:10043361 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:6432 pulmonary hypertension treatment ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:24334871|REF_RGD_ID:10043360 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:684 hepatocellular carcinoma ISO RGD:732911 D RGD:9068941 20220825 MouseDO OMIM:114550 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:7910 maxillary sinus squamous cell carcinoma ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:15040115|REF_RGD_ID:8662355 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:8466 retinal degeneration ISO RGD:69328 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:increased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:8472 localized scleroderma ISO RGD:732911 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:15803328|REF_RGD_ID:8662838 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:8577 ulcerative colitis disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:15743319|REF_RGD_ID:8662406 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:8893 psoriasis ISO RGD:735341 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:7636313|REF_RGD_ID:8662825 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69328 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17714589|REF_RGD_ID:2289666 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:735341 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17714589|REF_RGD_ID:2289666 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell: PMID:9546362|REF_RGD_ID:8662446 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9000040 Hypertrophy ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27652271 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9000081 Lymphatic Metastasis ISO RGD:735341 D RGD:9068941 20200609 RGD associated with Eyelid Neoplasms; PMID:19628749|REF_RGD_ID:8661799 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9000081 Lymphatic Metastasis ISO RGD:735341 D RGD:9068941 20200609 RGD associated with Oral Squamous Cell Carcinoma; PMID:15817070|REF_RGD_ID:8662374 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9000117 Esophageal Neoplasms disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:11903577|REF_RGD_ID:8662379 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:23890812|REF_RGD_ID:13792775 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647439 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9000332 Hypovolemia ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:10451498|REF_RGD_ID:10043817 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9000403 Animal Mammary Neoplasms onset ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:11103935|REF_RGD_ID:8662404 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9000965 Neoplasm Metastasis ISO RGD:735341 D RGD:9068941 20200609 RGD associated with Melanoma; PMID:9194578|REF_RGD_ID:8662817 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9000998 Brain Injuries ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:9914434|REF_RGD_ID:8662346 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:69328 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:8640740|REF_RGD_ID:8662309 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9002085 Congenital Cholesteatoma ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression: PMID:23324739|REF_RGD_ID:8661795 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27652271 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9002221 Hyperplasia ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression PMID:23890812|REF_RGD_ID:13792775 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9002234 Pituitary Neoplasms ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:18981426|REF_RGD_ID:8662821 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9002245 Intestinal Neoplasms ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:11212250|REF_RGD_ID:8662377 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9002245 Intestinal Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11535846|PMID:12468628 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9002304 Prostatic Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12727815|PMID:15598783 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9002644 Premature Aging ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:23207764|REF_RGD_ID:10043192 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9002762 Ovarian Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:9006333|REF_RGD_ID:2289661 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:21187137|REF_RGD_ID:8661793 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9002928 Colonic Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20876807 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9003036 Oral Lichen Planus ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:mucosa: PMID:12076323|REF_RGD_ID:8662419 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9003216 Salivary Gland Neoplasms onset ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:11103935|REF_RGD_ID:8662404 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:18203777|REF_RGD_ID:2289651 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9004009 Reperfusion Injury ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:10451498|REF_RGD_ID:10043817 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9004009 Reperfusion Injury ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9004240 Phyllodes Tumor severity ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:17090194|REF_RGD_ID:2289654 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9004464 Skin Neoplasms ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:9264409|REF_RGD_ID:8662813 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9004484 Sepsis ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:10451498|REF_RGD_ID:10043817 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9004547 Thyroid Neoplasms ISO RGD:69328 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland PMID:23890812|REF_RGD_ID:13792775 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:69328 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:increased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9004994 Embryo Loss ISO RGD:735341 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9005172 Lung Neoplasms ISO RGD:735341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12466968|PMID:18508827 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression:testes: PMID:24828139|REF_RGD_ID:8662307 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:11488071|REF_RGD_ID:8662423 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9007170 Bowen's Disease ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:10583111|REF_RGD_ID:8662826 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9007188 Liver Neoplasms ISO RGD:735341 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9007400 Lip Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:17238970|REF_RGD_ID:8662391 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9007479 Habitual Abortions ISO RGD:735341 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9007480 Hyperoxia ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:18082050|REF_RGD_ID:2289663 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9007480 Hyperoxia ISO RGD:732911 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9476904|REF_RGD_ID:10043823 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:69328 D RGD:9068941 20200609 RGD PMID:10451498|REF_RGD_ID:10043817 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9007715 Endometrial Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16837908|REF_RGD_ID:2289683 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S31R PMID:15099969|REF_RGD_ID:2296047 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9007964 Arsenic Poisoning ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:11860939|REF_RGD_ID:8662429 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9008824 Sarcopenia treatment ISO RGD:732911 D RGD:9068941 20200609 RGD PMID:20022929|REF_RGD_ID:10043356 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9008939 Breast Neoplasms ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:snp: :rs3176336 PMID:18174243|REF_RGD_ID:2289652 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:16537179|REF_RGD_ID:2289656 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9074 systemic lupus erythematosus ISO RGD:732911 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:916 liver benign neoplasm ISO RGD:69328 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:23890812|REF_RGD_ID:13792775 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9206 Barrett's esophagus ISO RGD:735341 D RGD:9068941 20200609 RGD protein:increased expression:nucleus of esophagus mucosa: PMID:11753681|REF_RGD_ID:8662398 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9282 ocular hypertension ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:14985792|REF_RGD_ID:8661805 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9655 oral mucosa leukoplakia ISO RGD:735341 D RGD:9068941 20200609 RGD PMID:10873097|REF_RGD_ID:8662371 8830329 Cdkn1a cyclin dependent kinase inhibitor 1A gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:735341 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:149A>G(human) PMID:10873097|REF_RGD_ID:8662371 8830336 Gls glutaminase gene DOID:0111944 immunodeficiency 31B ISO RGD:736636 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 8830336 Gls glutaminase gene DOID:0112207 developmental and epileptic encephalopathy 71 ISO RGD:736636 D RGD:7240710 20190315 OMIM 8830336 Gls glutaminase gene DOID:0112207 developmental and epileptic encephalopathy 71 ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 PMID:25741868|PMID:30575854 8830336 Gls glutaminase gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736636 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 8830336 Gls glutaminase gene DOID:630 genetic disease ISO RGD:736636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830336 Gls glutaminase gene DOID:8398 osteoarthritis ISO RGD:736636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8830336 Gls glutaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8830336 Gls glutaminase gene DOID:9001649 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development ISO RGD:736636 D RGD:7240710 20190315 OMIM 8830336 Gls glutaminase gene DOID:9001649 Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development PMID:25741868|PMID:30239721 8830336 Gls glutaminase gene DOID:9003281 Spontaneous Abortions ISO RGD:736636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8830336 Gls glutaminase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8830336 Gls glutaminase gene DOID:9005979 Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine ISO RGD:736636 D RGD:7240710 20190821 OMIM 8830336 Gls glutaminase gene DOID:9005979 Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine ISO RGD:736636 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine PMID:25741868 8830336 Gls glutaminase gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:736636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8830357 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome ISO RGD:1352306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8830357 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 ISO RGD:1352306 D RGD:7240710 20180130 OMIM 8830357 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 ISO RGD:1352306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 PMID:16199547|PMID:17576681|PMID:22315194|PMID:2443911|PMID:24439110|PMID:25741868|PMID:27120253|PMID:28327575|PMID:28390064|PMID:28492532|PMID:29310717|PMID:29531774|PMID:29620724|PMID:30217754|PMID:30345601|PMID:32845056|PMID:32860008|PMID:34582790|PMID:35887114|PMID:9536098 8830357 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1352306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8830357 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:1826 epilepsy ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30345601 8830357 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:25741868|PMID:30345601 8830357 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:630 genetic disease ISO RGD:1352306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29310717|PMID:34582790|PMID:35887114 8830357 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:674 cleft palate ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:30345601 8830357 Pgap3 post-GPI attachment to proteins phospholipase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1352306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30345601 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:0050685 small cell carcinoma ISO RGD:1344832 D RGD:9068941 20200609 RGD PMID:16313792|REF_RGD_ID:2312747 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:0080600 COVID-19 ISO RGD:1344832 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:0080600 COVID-19 ISO RGD:1344832 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:1062 Fanconi syndrome ISO RGD:1344832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:11612 polycystic ovary syndrome ISO RGD:628734 D RGD:9068941 20200609 RGD protein:increased expression:ovary follicle, granulosa cell PMID:17641850|REF_RGD_ID:2312746 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:1240 leukemia ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17204177 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:1793 pancreatic cancer ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11234897 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:2349 arteriosclerosis ISO RGD:1344832 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17000905|REF_RGD_ID:2312742 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:3068 glioblastoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21877938 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:3070 high grade glioma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16820965|PMID:19229339 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:3910 lung adenocarcinoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24345465 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:4450 renal cell carcinoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20403343 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:630 genetic disease ISO RGD:1344832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:684 hepatocellular carcinoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17326159 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:769 neuroblastoma ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16820965 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:8398 osteoarthritis ISO RGD:628734 D RGD:9068941 20200609 RGD PMID:14872496|REF_RGD_ID:2290500 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21209944 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9000998 Brain Injuries ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9001488 Human Influenza ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344832 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18287563|REF_RGD_ID:2312739 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9002170 Experimental Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17767197|PMID:24345465 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9002265 Kidney Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16985049 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16368536|PMID:17636462|PMID:17718901|PMID:21209944 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21616060 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9002928 Colonic Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15993848 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9003204 Neovascularization, Pathologic ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19509267|PMID:21209944 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9003281 Spontaneous Abortions ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21252285 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344832 D RGD:9068941 20200609 RGD PMID:19572802|REF_RGD_ID:2312737 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628734 D RGD:9068941 20200609 RGD PMID:18649770|REF_RGD_ID:2312738 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732827 D RGD:9068941 20200609 RGD PMID:12577054|REF_RGD_ID:2312744 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9007188 Liver Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18980244 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20071162 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17273769 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18483385 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9119 acute myeloid leukemia ISO RGD:1344832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12780785 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344832 D RGD:9068941 20200609 RGD PMID:18057577|REF_RGD_ID:2312740 8830376 Tnfsf10 TNF superfamily member 10 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732827 D RGD:9068941 20200609 RGD PMID:12882912|REF_RGD_ID:2312743 8830394 Inpp1 inositol polyphosphate-1-phosphatase gene DOID:0111944 immunodeficiency 31B ISO RGD:1314476 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 8830394 Inpp1 inositol polyphosphate-1-phosphatase gene DOID:12849 autistic disorder ISO RGD:1314476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14627686 8830394 Inpp1 inositol polyphosphate-1-phosphatase gene DOID:630 genetic disease ISO RGD:1314476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830394 Inpp1 inositol polyphosphate-1-phosphatase gene DOID:674 cleft palate ISO RGD:1314476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate 8830394 Inpp1 inositol polyphosphate-1-phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8830410 Kif3a kinesin family member 3A gene DOID:0080006 bone development disease ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17698054 8830410 Kif3a kinesin family member 3A gene DOID:0080322 polycystic kidney disease ISO RGD:1552608 D RGD:9068941 20220825 MouseDO 8830410 Kif3a kinesin family member 3A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8830410 Kif3a kinesin family member 3A gene DOID:0080600 COVID-19 ISO RGD:1352051 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8830410 Kif3a kinesin family member 3A gene DOID:10325 silicosis ISO RGD:1352051 D RGD:9068941 20230105 RGD protein:increased expression:respiratory system fluid/secretion: PMID:32042332|REF_RGD_ID:155791682 8830410 Kif3a kinesin family member 3A gene DOID:10325 silicosis ISO RGD:621536 D RGD:9068941 20230105 RGD protein:decreased expression:lung PMID:32042332|REF_RGD_ID:155791682 8830410 Kif3a kinesin family member 3A gene DOID:1148 polydactyly ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17698054 8830410 Kif3a kinesin family member 3A gene DOID:1934 dysostosis ISO RGD:1552608 D RGD:9068941 20220825 MouseDO 8830410 Kif3a kinesin family member 3A gene DOID:2841 asthma ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 8830410 Kif3a kinesin family member 3A gene DOID:630 genetic disease ISO RGD:1352051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830410 Kif3a kinesin family member 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8830410 Kif3a kinesin family member 3A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352051 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8830410 Kif3a kinesin family member 3A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17698054 8830410 Kif3a kinesin family member 3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8830439 Clcn3 chloride voltage-gated channel 3 gene DOID:0060041 autism spectrum disorder ISO RGD:730986 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Autism, susceptiblity to PMID:25741868 8830439 Clcn3 chloride voltage-gated channel 3 gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:730987 D RGD:9068941 20220825 MouseDO OMIM:204200 8830439 Clcn3 chloride voltage-gated channel 3 gene DOID:10003 sensorineural hearing loss ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 8830439 Clcn3 chloride voltage-gated channel 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:730987 D RGD:9068941 20200609 RGD PMID:12059962|REF_RGD_ID:734783 8830439 Clcn3 chloride voltage-gated channel 3 gene DOID:3070 high grade glioma ISO RGD:730986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12843258 8830439 Clcn3 chloride voltage-gated channel 3 gene DOID:630 genetic disease ISO RGD:730986 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17652080|PMID:26342074|PMID:34186028 8830439 Clcn3 chloride voltage-gated channel 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:730986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8830439 Clcn3 chloride voltage-gated channel 3 gene DOID:9000918 Disease Progression ISO RGD:730986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8830439 Clcn3 chloride voltage-gated channel 3 gene DOID:9001042 Neurodevelopmental Disorder with Seizures and Brain Abnormalities ISO RGD:730986 D RGD:7240710 20221123 OMIM 8830439 Clcn3 chloride voltage-gated channel 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:25741868|PMID:34186028 8830439 Clcn3 chloride voltage-gated channel 3 gene DOID:9005415 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES ISO RGD:730986 D RGD:7240710 20211027 OMIM 8830439 Clcn3 chloride voltage-gated channel 3 gene DOID:9005415 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES ISO RGD:730986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and brain abnormalities PMID:24033266|PMID:25741868|PMID:34186028 8830495 Fundc1 FUN14 domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8830495 Fundc1 FUN14 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1351437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8830495 Fundc1 FUN14 domain containing 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1351437 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 8830495 Fundc1 FUN14 domain containing 1 gene DOID:630 genetic disease ISO RGD:1351437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830495 Fundc1 FUN14 domain containing 1 gene DOID:9002669 Hypoxia ISO RGD:1557033 D RGD:9068941 20200609 RGD protein:decreased expression:brain (mouse) PMID:22267086|REF_RGD_ID:12738373 8830495 Fundc1 FUN14 domain containing 1 gene DOID:9002669 Hypoxia severity ISO RGD:1557033 D RGD:9068941 20200609 RGD PMID:27995894|REF_RGD_ID:12738374 8830495 Fundc1 FUN14 domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8830495 Fundc1 FUN14 domain containing 1 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1351437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 8830504 Hdc histidine decarboxylase gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:736253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tourette syndrome PMID:20445167|PMID:24411733|PMID:25741868 8830504 Hdc histidine decarboxylase gene DOID:11119 Gilles de la Tourette syndrome susceptibility ISO RGD:736253 D RGD:7240710 20230505 OMIM 8830504 Hdc histidine decarboxylase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:10706 D RGD:9068941 20200609 RGD PMID:17158962|REF_RGD_ID:5143920 8830504 Hdc histidine decarboxylase gene DOID:2717 Bloom syndrome ISO RGD:736253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8830504 Hdc histidine decarboxylase gene DOID:2841 asthma ISO RGD:736253 D RGD:9068941 20200609 RGD associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human) PMID:20608921|REF_RGD_ID:5128884 8830504 Hdc histidine decarboxylase gene DOID:4483 rhinitis ISO RGD:2790 D RGD:9068941 20200609 RGD PMID:15054596|REF_RGD_ID:5143921 8830504 Hdc histidine decarboxylase gene DOID:4483 rhinitis ISO RGD:736253 D RGD:9068941 20200609 RGD DNA:SNP: :p.E644D (rs2073440) (human) PMID:20608921|REF_RGD_ID:5128884 8830504 Hdc histidine decarboxylase gene DOID:552 pneumonia ISO RGD:10706 D RGD:9068941 20200609 RGD PMID:14556983|REF_RGD_ID:5143922 8830504 Hdc histidine decarboxylase gene DOID:630 genetic disease ISO RGD:736253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830504 Hdc histidine decarboxylase gene DOID:9005369 Hepatomegaly ISO RGD:736253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8830504 Hdc histidine decarboxylase gene DOID:9008527 Chlamydophila Infections ISO RGD:10706 D RGD:9068941 20200609 RGD PMID:14556983|REF_RGD_ID:5143922 8830504 Hdc histidine decarboxylase gene DOID:9256 colorectal cancer ISO RGD:736253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8830548 C1qtnf4 C1q and TNF related 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1322231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8830548 C1qtnf4 C1q and TNF related 4 gene DOID:1059 intellectual disability ISO RGD:1322231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8830548 C1qtnf4 C1q and TNF related 4 gene DOID:630 genetic disease ISO RGD:1322231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830561 Brd4 bromodomain containing 4 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316385 D RGD:9068941 20200609 RGD PMID:23759512|REF_RGD_ID:9586353 8830561 Brd4 bromodomain containing 4 gene DOID:0050888 syndromic intellectual disability ISO RGD:1316385 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:35887114 8830561 Brd4 bromodomain containing 4 gene DOID:0050902 medulloblastoma ISO RGD:1316385 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24231268|PMID:31594641 8830561 Brd4 bromodomain containing 4 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1316385 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868 8830561 Brd4 bromodomain containing 4 gene DOID:1059 intellectual disability ISO RGD:1316385 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 8830561 Brd4 bromodomain containing 4 gene DOID:10907 microcephaly ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 8830561 Brd4 bromodomain containing 4 gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1316385 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: De Lange syndrome PMID:25741868|PMID:34035299 8830561 Brd4 bromodomain containing 4 gene DOID:12679 nephrocalcinosis ISO RGD:1316386 D RGD:9068941 20220825 MouseDO 8830561 Brd4 bromodomain containing 4 gene DOID:1909 melanoma ISO RGD:1316385 D RGD:9068941 20200609 RGD protein:mRNA:skin: PMID:23950209|REF_RGD_ID:9586346 8830561 Brd4 bromodomain containing 4 gene DOID:219 colon cancer ISO RGD:1316385 D RGD:9068941 20200609 RGD PMID:22120039|REF_RGD_ID:9586351 8830561 Brd4 bromodomain containing 4 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1316385 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bladder: PMID:25120803|REF_RGD_ID:9586352 8830561 Brd4 bromodomain containing 4 gene DOID:3068 glioblastoma ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26455392|PMID:27388964 8830561 Brd4 bromodomain containing 4 gene DOID:3347 osteosarcoma ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24646477 8830561 Brd4 bromodomain containing 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1316386 D RGD:9068941 20200609 RGD PMID:23759512|REF_RGD_ID:9586353 8830561 Brd4 bromodomain containing 4 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1316385 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thyroid PMID:26707881|REF_RGD_ID:11085509 8830561 Brd4 bromodomain containing 4 gene DOID:630 genetic disease ISO RGD:1316385 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19828451|PMID:28492532 8830561 Brd4 bromodomain containing 4 gene DOID:6432 pulmonary hypertension ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26224795 8830561 Brd4 bromodomain containing 4 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25877301 8830561 Brd4 bromodomain containing 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316385 D RGD:9068941 20200609 RGD PMID:23950209|REF_RGD_ID:9586346 8830561 Brd4 bromodomain containing 4 gene DOID:9002221 Hyperplasia ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25242322 8830561 Brd4 bromodomain containing 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8830561 Brd4 bromodomain containing 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26752646 8830561 Brd4 bromodomain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8830561 Brd4 bromodomain containing 4 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26707881 8830561 Brd4 bromodomain containing 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1316386 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:23939492|REF_RGD_ID:9586348 8830561 Brd4 bromodomain containing 4 gene DOID:9006093 Cornelia de Lange Syndrome 6 ISO RGD:1316385 D RGD:7240710 20231220 OMIM 8830561 Brd4 bromodomain containing 4 gene DOID:9006093 Cornelia de Lange Syndrome 6 ISO RGD:1316385 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 6 PMID:25741868|PMID:29379197|PMID:35470444 8830561 Brd4 bromodomain containing 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8830561 Brd4 bromodomain containing 4 gene DOID:9007661 Dwarfism ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8830561 Brd4 bromodomain containing 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1316386 D RGD:9068941 20230209 RGD mRNA,protein:increased expression:heart PMID:33982231|REF_RGD_ID:155883171 8830561 Brd4 bromodomain containing 4 gene DOID:9008582 Developmental Disease ISO RGD:1316385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8830561 Brd4 bromodomain containing 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1316386 D RGD:9068941 20200609 RGD PMID:21814200|REF_RGD_ID:9586350 8830561 Brd4 bromodomain containing 4 gene DOID:987 alopecia ISO RGD:1316385 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25242322 8830585 Art3 ADP-ribosyltransferase 3 (inactive) gene DOID:630 genetic disease ISO RGD:1320437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830585 Art3 ADP-ribosyltransferase 3 (inactive) gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69098 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10338089|PMID:10559219|PMID:11318841|PMID:11395395|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14692646|PMID:14715863|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15504982|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15855351|PMID:15886397|PMID:15998776|PMID:16123337|PMID:16166157|PMID:16357843|PMID:16403845|PMID:16416420|PMID:16455067|PMID:16731837|PMID:16885549|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17490422|PMID:17491708|PMID:17652641|PMID:17673911|PMID:17728498|PMID:17823772|PMID:18250167|PMID:18414213|PMID:18556340|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20642364|PMID:20685672|PMID:20686794|PMID:20694718|PMID:21115269|PMID:21119644|PMID:21422196|PMID:21544516|PMID:21812132|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22768671|PMID:22831748|PMID:23226049|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23652837|PMID:23667671|PMID:23950723|PMID:24018988|PMID:24068186|PMID:24401662|PMID:24434300|PMID:2462236|PMID:24622368|PMID:25201519|PMID:25247988|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26545876|PMID:26958039|PMID:27033559|PMID:27118464|PMID:27188453|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28123437|PMID:28347637|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29439679|PMID:29893194|PMID:30297969|PMID:30377186|PMID:30386300|PMID:30663027|PMID:30873120|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33324081|PMID:34566892|PMID:34737607|PMID:7847376|PMID:8897013|PMID:8923010|PMID:9356020|PMID:9867219 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448107|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16123337|PMID:16455067|PMID:16670688|PMID:16731837|PMID:16885549|PMID:17021801|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17823772|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19065048|PMID:19139106|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22768671|PMID:24068186|PMID:24150202|PMID:25555642|PMID:25678012|PMID:25739471|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:28083968|PMID:28492532|PMID:29893194|PMID:32279225|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33816067|PMID:34566892|PMID:9867219 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:69098 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10049691|PMID:10559219|PMID:11318841|PMID:11395395|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12213829|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14551916|PMID:14692646|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15504982|PMID:15531505|PMID:15561897|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15807877|PMID:15838686|PMID:15855351|PMID:15886397|PMID:16123337|PMID:16205880|PMID:16268330|PMID:16357843|PMID:16403845|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16636122|PMID:16670688|PMID:16731833|PMID:16731837|PMID:16885549|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17257281|PMID:17296510|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17652641|PMID:17673911|PMID:17728498|PMID:17823772|PMID:17901525|PMID:18073297|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18436707|PMID:18556340|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19065048|PMID:19139106|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20642364|PMID:20685672|PMID:20686794|PMID:21115269|PMID:21119644|PMID:21340152|PMID:21352428|PMID:21422196|PMID:21544516|PMID:21765448|PMID:21812132|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22749773|PMID:22768671|PMID:22831748|PMID:22958899|PMID:23226037|PMID:23226049|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23652837|PMID:23950723|PMID:24018988|PMID:24068186|PMID:24150202|PMID:24401662|PMID:24421282|PMID:24622368|PMID:24686051|PMID:24698822|PMID:25201519|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25637631|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26388896|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27118464|PMID:27173951|PMID:27181376|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28083968|PMID:28123437|PMID:28262438|PMID:28270372|PMID:28352326|PMID:28442472|PMID:28480665|PMID:28492532|PMID:29361385|PMID:29893194|PMID:30286572|PMID:30377186|PMID:30663027|PMID:31218401|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32279225|PMID:32418263|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33324081|PMID:33409956|PMID:33816067|PMID:33853507|PMID:33987715|PMID:34566892|PMID:9831713|PMID:9867219 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ISO RGD:69098 D RGD:7240710 20240214 OMIM 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ISO RGD:69098 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 PMID:10338089|PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15504982|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16357843|PMID:16416420|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17316607|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20032456|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20694718|PMID:20980454|PMID:21115269|PMID:21119644|PMID:21422196|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23700433|PMID:24018988|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:24698822|PMID:25247988|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26740944|PMID:27118464|PMID:27188453|PMID:27908292|PMID:28123437|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28938416|PMID:29216354|PMID:29893194|PMID:30026763|PMID:30297969|PMID:30377186|PMID:30873120|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32935446|PMID:33324081|PMID:33853507|PMID:34737607|PMID:35402560|PMID:7847376|PMID:8897013|PMID:8923010|PMID:9356020|PMID:9867219 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:15580558|PMID:15718250|PMID:16885549|PMID:17466004|PMID:18414213|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0080855 Parkinsonism ISO RGD:69247 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prefrontal cortex, striatum, hippocampus (rat) PMID:15857625|REF_RGD_ID:1598645 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69098 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:23345197|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32935446|PMID:33046911|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69098 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:23345197|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32935446|PMID:33046911|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0111110 maturity-onset diabetes of the young type 13 ISO RGD:69098 D RGD:7240710 20240214 OMIM 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0111110 maturity-onset diabetes of the young type 13 ISO RGD:69098 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MODY, TYPE 13 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13 PMID:10338089|PMID:11318841|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15504982|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15855351|PMID:16416420|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17490422|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20685672|PMID:21054355|PMID:21115269|PMID:21119644|PMID:21210267|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23345197|PMID:23667671|PMID:2462236|PMID:24622368|PMID:24698822|PMID:25247988|PMID:25637631|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26740944|PMID:27033559|PMID:27118464|PMID:28347637|PMID:28352326|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29216354|PMID:29893194|PMID:30297969|PMID:30377186|PMID:31291970|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33324081|PMID:33853507|PMID:34737607|PMID:35402560|PMID:8897013|PMID:9867219 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:0112262 leucine-sensitive hypoglycemia of infancy ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leucine-induced hypoglycemia PMID:16885549|PMID:17466004|PMID:25741868|PMID:28492532 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:1059 intellectual disability ISO RGD:69098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:10763 hypertension ISO RGD:69247 D RGD:9068941 20200609 RGD PMID:15964031|REF_RGD_ID:1598644 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:11446 sciatic neuropathy ISO RGD:69247 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:17108688|REF_RGD_ID:7297043 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:11716 prediabetes syndrome ISO RGD:69247 D RGD:9068941 20200609 RGD associated with Obesity;protein:decreased expression:hypothalamus PMID:18001323|REF_RGD_ID:2311538 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:11717 neonatal diabetes ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:10049691|PMID:10338089|PMID:12213829|PMID:12524280|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15504982|PMID:15531505|PMID:15561897|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15838686|PMID:16123337|PMID:16205880|PMID:16268330|PMID:16416420|PMID:16609879|PMID:16636122|PMID:16670688|PMID:16731833|PMID:16731837|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17296510|PMID:17327377|PMID:17446535|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17673911|PMID:17901525|PMID:18414213|PMID:18436707|PMID:18662362|PMID:18767144|PMID:19065048|PMID:20220270|PMID:20301620|PMID:20466780|PMID:21352428|PMID:22471336|PMID:2270156|PMID:22701567|PMID:22749773|PMID:22768671|PMID:23667671|PMID:2462236|PMID:24622368|PMID:25308342|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27681997|PMID:28347637|PMID:28480665|PMID:28492532|PMID:28587604|PMID:28925365|PMID:32101525|PMID:32418263|PMID:32792356|PMID:32893419|PMID:33409956|PMID:33816067|PMID:33987715|PMID:34566892|PMID:8897013|PMID:9831713 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:11832 visual epilepsy ISO RGD:69247 D RGD:9068941 20200609 RGD PMID:18021373|REF_RGD_ID:2301911 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:69098 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16357843|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:23275527|PMID:24018988|PMID:24401662|PMID:25741868|PMID:26448950|PMID:26467025|PMID:27908292|PMID:28123437|PMID:28492532|PMID:29893194|PMID:30377186|PMID:32935446|PMID:9867219 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:1824 status epilepticus ISO RGD:69247 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:22050960|REF_RGD_ID:5686281 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:2018 hyperinsulinism ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15448106|PMID:15504982|PMID:15531505|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15797964|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885549|PMID:16885550|PMID:17065345|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17823772|PMID:17901525|PMID:18414213|PMID:18596924|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20022885|PMID:20032456|PMID:20049716|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20589481|PMID:20685672|PMID:20980454|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22471336|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22768671|PMID:23700433|PMID:24068186|PMID:24434300|PMID:24622368|PMID:24698822|PMID:25308342|PMID:25639667|PMID:25741868|PMID:25871929|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27173951|PMID:27181376|PMID:27681997|PMID:28480665|PMID:28492532|PMID:28938416|PMID:29893194|PMID:32027066|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33987715|PMID:9867219 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:3310 atopic dermatitis ISO RGD:69098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atopic eczema 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:630 genetic disease ISO RGD:69098 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15580558|PMID:15718250|PMID:18414213|PMID:18767144|PMID:21119644|PMID:22512215|PMID:22701567|PMID:23275527|PMID:23345197|PMID:24068186|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27173951|PMID:27181376|PMID:28492532|PMID:29216354|PMID:31291970|PMID:32041611|PMID:32935446|PMID:33046911 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9001250 Transient Neonatal Diabetes Mellitus, 3 ISO RGD:69098 D RGD:7240710 20240214 OMIM 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9001250 Transient Neonatal Diabetes Mellitus, 3 ISO RGD:69098 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3 PMID:10338089|PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15504982|PMID:15531505|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15807877|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16357843|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17673911|PMID:17823772|PMID:17901525|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20589481|PMID:20685672|PMID:20686794|PMID:21115269|PMID:21119644|PMID:21422196|PMID:21765448|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22768671|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23667671|PMID:23950723|PMID:24018988|PMID:24401662|PMID:24421282|PMID:24434300|PMID:2462236|PMID:24622368|PMID:24686051|PMID:24698822|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27118464|PMID:27173951|PMID:27181376|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28123437|PMID:28347637|PMID:28352326|PMID:28442472|PMID:28480665|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29216354|PMID:29893194|PMID:30297969|PMID:30377186|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33324081|PMID:33853507|PMID:33987715|PMID:34566892|PMID:34737607|PMID:35402560|PMID:8897013|PMID:9867219 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9002261 Permanent Neonatal Diabetes Mellitus 1 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1 PMID:15580558|PMID:15718250|PMID:25741868|PMID:26448950 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3 PMID:16885549|PMID:17466004|PMID:25741868|PMID:28492532 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69099 D RGD:9068941 20200609 RGD PMID:18802029|REF_RGD_ID:7297042 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9005129 Transient Neonatal Diabetes Mellitus, 2 ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:15580558|PMID:15718250|PMID:16885549|PMID:17466004|PMID:18414213|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69247 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23785408|REF_RGD_ID:7296920 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006009 Neonatal Hypoglycemia, Simulating Foetopathia Diabetica ISO RGD:69098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neonatal hypoglycemia PMID:16609879|PMID:16885549|PMID:17446535|PMID:17466004|PMID:17635943|PMID:18073297|PMID:18414213|PMID:20301620|PMID:21340152|PMID:23226037|PMID:25741868|PMID:26388896|PMID:27223594|PMID:28492532|PMID:30286572 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69247 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:21250976|REF_RGD_ID:7297045 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006240 Permanent Neonatal Diabetes Mellitus 2 ISO RGD:69098 D RGD:7240710 20240214 OMIM 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006240 Permanent Neonatal Diabetes Mellitus 2 ISO RGD:69098 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 2 PMID:10049691|PMID:11872696|PMID:12213829|PMID:12475776|PMID:12524280|PMID:14871556|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15531505|PMID:15561897|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16268330|PMID:16416420|PMID:16609879|PMID:16636122|PMID:16670688|PMID:16731833|PMID:16731837|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17257281|PMID:17296510|PMID:17327377|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17652641|PMID:17673911|PMID:17728498|PMID:17901525|PMID:18073297|PMID:18414213|PMID:18436707|PMID:18662362|PMID:18767144|PMID:19065048|PMID:19139106|PMID:20022885|PMID:20220270|PMID:20301620|PMID:20466780|PMID:21340152|PMID:21352428|PMID:21765448|PMID:22512215|PMID:22749773|PMID:22768671|PMID:22958899|PMID:24622368|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:28352326|PMID:28480665|PMID:28492532|PMID:28766502|PMID:30286572|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32893419|PMID:33324081|PMID:33409956|PMID:33816067|PMID:33853507|PMID:33987715|PMID:34566892|PMID:9831713 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69098 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16357843|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:23275527|PMID:24018988|PMID:24401662|PMID:25741868|PMID:26448950|PMID:26467025|PMID:27908292|PMID:28123437|PMID:28492532|PMID:29893194|PMID:30377186|PMID:32935446|PMID:9867219 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9007102 Myocardial Ischemia ISO RGD:69247 D RGD:9068941 20200609 RGD PMID:26591689|REF_RGD_ID:12790977 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9007447 Developmental Delay, Epilepsy, and Neonatal Diabetes ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: DEND syndrome PMID:15580558|PMID:15718250|PMID:25741868|PMID:26448950 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9007692 Insulin Resistance ISO RGD:69098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9032110 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69099 D RGD:9068941 20200609 RGD PMID:17906066|REF_RGD_ID:7297046 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9351 diabetes mellitus ISO RGD:69098 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10338089|PMID:12524280|PMID:14715863|PMID:15115830|PMID:15292329|PMID:15504982|PMID:15562009|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15807877|PMID:16123337|PMID:16357843|PMID:16731837|PMID:17021801|PMID:17327377|PMID:17446535|PMID:17490422|PMID:18250167|PMID:18414213|PMID:18767144|PMID:20301620|PMID:20685672|PMID:21115269|PMID:21119644|PMID:22471336|PMID:2270156|PMID:22701567|PMID:22768671|PMID:23275527|PMID:23345197|PMID:23667671|PMID:24421282|PMID:2462236|PMID:24622368|PMID:24686051|PMID:25247988|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27681997|PMID:27908292|PMID:28270372|PMID:28347637|PMID:28492532|PMID:28587604|PMID:28766502|PMID:28787272|PMID:28925365|PMID:31218401|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33324081|PMID:34566892|PMID:8897013 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:7240710 20240214 OMIM 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69098 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:23345197|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32935446|PMID:33046911|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:12524280|PMID:15115830|PMID:15448106|PMID:15448107|PMID:15531505|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15838686|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:17065345|PMID:17327377|PMID:17446535|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17901525|PMID:18414213|PMID:18662362|PMID:19065048|PMID:20220270|PMID:20301620|PMID:20466780|PMID:22768671|PMID:24622368|PMID:25308342|PMID:25741868|PMID:26467025|PMID:26839896|PMID:26958039|PMID:27681997|PMID:28480665|PMID:28492532|PMID:29361385|PMID:32792356|PMID:32893419|PMID:33816067|PMID:33987715 8830632 Kcnj11 potassium inwardly rectifying channel subfamily J member 11 gene DOID:9993 hypoglycemia ISO RGD:69098 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:18596924|PMID:20032456|PMID:23700433|PMID:27908292|PMID:31464105 8830637 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8830637 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8830637 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8830637 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8830637 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8830637 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830637 Lpcat3 lysophosphatidylcholine acyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8830658 Stag3 STAG3 cohesin complex component gene DOID:0070168 spermatogenic failure 3 ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31682730|PMID:35176428 8830658 Stag3 STAG3 cohesin complex component gene DOID:0080865 primary ovarian insufficiency 8 ISO RGD:737601 D RGD:7240710 20180130 OMIM 8830658 Stag3 STAG3 cohesin complex component gene DOID:0080865 primary ovarian insufficiency 8 ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 8 PMID:24597867|PMID:25741868|PMID:28393351|PMID:30006057 8830658 Stag3 STAG3 cohesin complex component gene DOID:0112350 spermatogenic failure 61 ISO RGD:737601 D RGD:7240710 20211222 OMIM 8830658 Stag3 STAG3 cohesin complex component gene DOID:0112350 spermatogenic failure 61 ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 61 PMID:25741868|PMID:31125047|PMID:31682730 8830658 Stag3 STAG3 cohesin complex component gene DOID:10787 premature menopause ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature menopause PMID:25741868 8830658 Stag3 STAG3 cohesin complex component gene DOID:1924 hypogonadism ISO RGD:737601 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:25741868 8830658 Stag3 STAG3 cohesin complex component gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8830658 Stag3 STAG3 cohesin complex component gene DOID:5426 primary ovarian insufficiency ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:35176428 8830658 Stag3 STAG3 cohesin complex component gene DOID:630 genetic disease ISO RGD:737601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830658 Stag3 STAG3 cohesin complex component gene DOID:9007456 Female Infertility ISO RGD:737601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Female infertility PMID:25741868 8830697 Bsph1 binder of sperm protein homolog 1 gene DOID:630 genetic disease ISO RGD:2306586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830705 Tmx1 thioredoxin related transmembrane protein 1 gene DOID:0080600 COVID-19 ISO RGD:1318232 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8830705 Tmx1 thioredoxin related transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1318232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830727 Mphosph10 M-phase phosphoprotein 10 gene DOID:543 dystonia ISO RGD:1316939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8830727 Mphosph10 M-phase phosphoprotein 10 gene DOID:630 genetic disease ISO RGD:1316939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830727 Mphosph10 M-phase phosphoprotein 10 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1316939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8830743 Gramd2b GRAM domain containing 2B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604604 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8830743 Gramd2b GRAM domain containing 2B gene DOID:630 genetic disease ISO RGD:1604604 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830743 Gramd2b GRAM domain containing 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8830743 Gramd2b GRAM domain containing 2B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604604 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8830776 Mbnl2 muscleblind like splicing regulator 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1315628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8830776 Mbnl2 muscleblind like splicing regulator 2 gene DOID:630 genetic disease ISO RGD:1315628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830776 Mbnl2 muscleblind like splicing regulator 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8830818 Glra2 glycine receptor alpha 2 gene DOID:0070422 syndromic X-linked intellectual disability Pilorge type ISO RGD:731909 D RGD:7240710 20220427 OMIM 8830818 Glra2 glycine receptor alpha 2 gene DOID:0070422 syndromic X-linked intellectual disability Pilorge type ISO RGD:731909 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type PMID:20479760|PMID:25741868|PMID:26370147|PMID:28135719|PMID:28492532|PMID:28588452|PMID:35294868 8830818 Glra2 glycine receptor alpha 2 gene DOID:12849 autistic disorder ISO RGD:731909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8830818 Glra2 glycine receptor alpha 2 gene DOID:630 genetic disease ISO RGD:731909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8830818 Glra2 glycine receptor alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8830836 Zfyve9 zinc finger FYVE-type containing 9 gene DOID:630 genetic disease ISO RGD:1321999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830862 Eola1 endothelium and lymphocyte associated ASCH domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8830862 Eola1 endothelium and lymphocyte associated ASCH domain 1 gene DOID:12849 autistic disorder ISO RGD:1344025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8830875 Rfng RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1345692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830875 Rfng RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9004657 Weight Gain ISO RGD:1345692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8830887 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1347817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8830887 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:10283 prostate cancer ISO RGD:1347817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:25466870|PMID:28940199 8830887 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:630 genetic disease ISO RGD:1347817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830887 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1347817 D RGD:7240710 20180130 OMIM 8830887 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9000609 Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus ISO RGD:1347817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus PMID:25466870|PMID:25741868|PMID:28940199|PMID:32738013|PMID:33486469 8830887 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8830887 Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1347817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8830919 Cripto cripto, EGF-CFC family member gene DOID:0050545 visceral heterotaxy ISO RGD:1352791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11062482 8830919 Cripto cripto, EGF-CFC family member gene DOID:14330 Parkinson's disease treatment ISO RGD:1617601 D RGD:9068941 20200609 RGD PMID:20641036|REF_RGD_ID:11561895 8830919 Cripto cripto, EGF-CFC family member gene DOID:1682 congenital heart disease ISO RGD:1352791 D RGD:9068941 20200609 RGD DNA:mutations:3'UTR,exons: PMID:19853938|REF_RGD_ID:11561893 8830919 Cripto cripto, EGF-CFC family member gene DOID:219 colon cancer treatment ISO RGD:1352791 D RGD:9068941 20200609 RGD PMID:15173016|REF_RGD_ID:11561894 8830919 Cripto cripto, EGF-CFC family member gene DOID:3307 teratoma treatment ISO RGD:1617601 D RGD:9068941 20200609 RGD PMID:20641036|REF_RGD_ID:11561895 8830919 Cripto cripto, EGF-CFC family member gene DOID:4621 holoprosencephaly ISO RGD:1352791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12073012 8830919 Cripto cripto, EGF-CFC family member gene DOID:630 genetic disease ISO RGD:1352791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830919 Cripto cripto, EGF-CFC family member gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1352791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8830919 Cripto cripto, EGF-CFC family member gene DOID:9003918 Forebrain Defects ISO RGD:1352791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Forebrain defects PMID:11062482|PMID:12073012 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0050336 hypophosphatemia ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314765 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060249 scoliosis ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:11398099|PMID:16116617|PMID:19131948|PMID:19890349|PMID:22622417|PMID:24033266|PMID:24824130|PMID:25741868|PMID:25998749|PMID:26274329|PMID:26370990|PMID:26578203|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29130490|PMID:29935003|PMID:30270455|PMID:30578701|PMID:31168818|PMID:33435499|PMID:33786896 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1314765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21739938 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 susceptibility ISO RGD:1314765 D RGD:9068941 20200609 RGD PMID:11773004|REF_RGD_ID:1599073 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 PMID:16116617|PMID:19131948|PMID:25741868|PMID:26370990|PMID:26762237|PMID:30578701|PMID:31046801|PMID:31168818 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060711 autosomal recessive congenital ichthyosis 3 ISO RGD:1314765 D RGD:7240710 20180130 OMIM 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0060711 autosomal recessive congenital ichthyosis 3 ISO RGD:1314765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 PMID:11398099|PMID:11773004|PMID:16116617|PMID:17576681|PMID:19131948|PMID:19890349|PMID:21668430|PMID:22622417|PMID:24033266|PMID:24824130|PMID:25741868|PMID:25998749|PMID:26274329|PMID:26370990|PMID:26578203|PMID:26762237|PMID:27025581|PMID:28492532|PMID:30270455|PMID:30578701|PMID:31046801|PMID:31642606|PMID:32978145|PMID:33435499|PMID:33786896|PMID:9536098 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1314765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:1059 intellectual disability ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:10907 microcephaly ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:11502 mitral valve insufficiency ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:25741868 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1314765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314765 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:1697 ichthyosis ISO RGD:1314765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:24824130|PMID:26274329|PMID:26578203|PMID:30270455 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:2256 osteochondrodysplasia ISO RGD:1314765 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:2340 craniosynostosis ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:25741868 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:630 genetic disease ISO RGD:1314765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:9003430 Sprengel Deformity ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sprengel's shoulder PMID:25741868 8830929 Aloxe3 arachidonate lipoxygenase 3 gene DOID:9007661 Dwarfism ISO RGD:1314765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Disproportionate short stature PMID:25741868 8830948 LOC102025168 chromosome unknown open reading frame, human C6orf226 gene DOID:0050444 infantile Refsum disease ISO RGD:1602792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8830948 LOC102025168 chromosome unknown open reading frame, human C6orf226 gene DOID:630 genetic disease ISO RGD:1602792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830948 LOC102025168 chromosome unknown open reading frame, human C6orf226 gene DOID:905 Zellweger syndrome ISO RGD:1602792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:11372 megacolon ISO RGD:1350605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:1682 congenital heart disease ISO RGD:1350605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26507003 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1350605 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:17205510|REF_RGD_ID:2292435 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:3070 high grade glioma ISO RGD:1350605 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35506701 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:3308 embryonal carcinoma ISO RGD:1350605 D RGD:9068941 20200609 RGD PMID:18045648|REF_RGD_ID:2292431 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:3308 embryonal carcinoma ISO RGD:1350605 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter PMID:17549357|REF_RGD_ID:2292433 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:3590 gestational trophoblastic neoplasm ISO RGD:1350605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18440631 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:4440 seminoma ISO RGD:1350605 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter PMID:17549357|REF_RGD_ID:2292433 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:4440 seminoma ISO RGD:1350605 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:17785371|REF_RGD_ID:2292432 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:4440 seminoma ISO RGD:1350605 D RGD:9068941 20200609 RGD protein:increased expression:chest PMID:18162782|REF_RGD_ID:2292429 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:4441 dysgerminoma ISO RGD:1350605 D RGD:9068941 20200609 RGD PMID:15371950|REF_RGD_ID:2292443 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:630 genetic disease ISO RGD:1350605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:670 amphetamine abuse ISO RGD:1350605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:8719 in situ carcinoma ISO RGD:1350605 D RGD:9068941 20200609 RGD associated with Testicular Neoplasms;protein:increased expression:semen PMID:17996359|REF_RGD_ID:2292428 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350605 D RGD:9068941 20200609 RGD associated with Seminoma; associated with Carcinoma, Embryonal PMID:15386301|REF_RGD_ID:2292442 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1350605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1350605 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35506701 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350605 D RGD:9068941 20200609 RGD PMID:17413979|REF_RGD_ID:2292434 8830969 Pou5f1 POU class 5 homeobox 1 gene DOID:9007702 Carcinogenesis ISO RGD:1350605 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35506701 8830979 Cep43 centrosomal protein 43 gene DOID:630 genetic disease ISO RGD:1313011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831014 JAK2 Janus kinase 2 gene DOID:3571 liver cancer severity ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA:increased expression:liver,serum (human) PMID:27788478|REF_RGD_ID:18182929 8831014 Jak2 Janus kinase 2 gene DOID:0060474 familial erythrocytosis 2 ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:21685897|REF_RGD_ID:6483049 8831014 Jak2 Janus kinase 2 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:731748 D RGD:7240710 20180130 OMIM 8831014 Jak2 Janus kinase 2 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:731748 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8831014 Jak2 Janus kinase 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:731748 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8831014 Jak2 Janus kinase 2 gene DOID:0060903 thrombosis ISO RGD:10823 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human) PMID:22467227|REF_RGD_ID:15039391 8831014 Jak2 Janus kinase 2 gene DOID:0060903 thrombosis ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human) PMID:22467227|REF_RGD_ID:15039391 8831014 Jak2 Janus kinase 2 gene DOID:0060903 thrombosis ISO RGD:731748 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human) PMID:22467227|REF_RGD_ID:15039391 8831014 Jak2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm ISO RGD:731748 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17267906|PMID:17989398|PMID:18256599|PMID:18394554|PMID:18805579|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:19470474|PMID:20339092|PMID:20585391|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22368270|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:22955920|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8831014 Jak2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm no_association ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs12342421) (human) PMID:23845539|REF_RGD_ID:10449376 8831014 Jak2 Janus kinase 2 gene DOID:0070004 myeloid neoplasm severity ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V617F (human) PMID:15858187|REF_RGD_ID:10449393 8831014 Jak2 Janus kinase 2 gene DOID:0070113 Niemann-Pick disease type C1 treatment ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:21176403|REF_RGD_ID:10403054 8831014 Jak2 Janus kinase 2 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:2939 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 8831014 Jak2 Janus kinase 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:18782535|REF_RGD_ID:6483030 8831014 Jak2 Janus kinase 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 8831014 Jak2 Janus kinase 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ameliorates ISO RGD:10823 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 8831014 Jak2 Janus kinase 2 gene DOID:0080600 COVID-19 ISO RGD:731748 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8831014 Jak2 Janus kinase 2 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:731748 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8831014 Jak2 Janus kinase 2 gene DOID:10534 stomach cancer ISO RGD:731748 D RGD:9068941 20210528 RGD associated with Helicobacter Infections; protein:increased expression:stomach (human) PMID:24718681|REF_RGD_ID:126928128 8831014 Jak2 Janus kinase 2 gene DOID:10534 stomach cancer susceptibility ISO RGD:731748 D RGD:9068941 20210528 RGD DNA:SNPs:exon, promoter: (rs2230724, rs1887427) (human) PMID:23717640|REF_RGD_ID:126925979 8831014 Jak2 Janus kinase 2 gene DOID:10534 stomach cancer treatment ISO RGD:731748 D RGD:9068941 20210625 RGD human cells in mouse model PMID:29408335|PMID:32106377|REF_RGD_ID:127284846|REF_RGD_ID:127284886 8831014 Jak2 Janus kinase 2 gene DOID:10603 glucose intolerance treatment ISO RGD:10823 D RGD:9068941 20200609 RGD associated with Alzheimer Disease PMID:23223021|REF_RGD_ID:10403052 8831014 Jak2 Janus kinase 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:18813209|REF_RGD_ID:10403051 8831014 Jak2 Janus kinase 2 gene DOID:10762 portal hypertension severity ISO RGD:10823 D RGD:9068941 20200609 RGD associated with liver cirrhosis PMID:26385087|REF_RGD_ID:18337263 8831014 Jak2 Janus kinase 2 gene DOID:10762 portal hypertension severity ISO RGD:2939 D RGD:9068941 20200609 RGD associated with liver cirrhosis PMID:26385087|REF_RGD_ID:18337263 8831014 Jak2 Janus kinase 2 gene DOID:10762 portal hypertension severity ISO RGD:731748 D RGD:9068941 20200609 RGD associated with liver cirrhosis PMID:26385087|REF_RGD_ID:18337263 8831014 Jak2 Janus kinase 2 gene DOID:11054 urinary bladder cancer ISO RGD:731748 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 8831014 Jak2 Janus kinase 2 gene DOID:1107 esophageal carcinoma treatment ISO RGD:731748 D RGD:9068941 20210625 RGD associated with Immune Deficiency Disease, human cells in mouse model PMID:25724470|REF_RGD_ID:127285656 8831014 Jak2 Janus kinase 2 gene DOID:114 heart disease treatment ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Shock, Septic PMID:23404057|REF_RGD_ID:8694329 8831014 Jak2 Janus kinase 2 gene DOID:11512 Budd-Chiari syndrome ISO RGD:731748 D RGD:7240710 20180130 OMIM 8831014 Jak2 Janus kinase 2 gene DOID:11512 Budd-Chiari syndrome ISO RGD:731748 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Budd-Chiari syndrome PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8831014 Jak2 Janus kinase 2 gene DOID:1184 nephrotic syndrome ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:17823504|REF_RGD_ID:6483037 8831014 Jak2 Janus kinase 2 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:24619965|REF_RGD_ID:10403061 8831014 Jak2 Janus kinase 2 gene DOID:1240 leukemia ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636672 8831014 Jak2 Janus kinase 2 gene DOID:1240 leukemia ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9326218|REF_RGD_ID:10450609 8831014 Jak2 Janus kinase 2 gene DOID:13252 mesenteric vascular occlusion ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20434300 8831014 Jak2 Janus kinase 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased tyrosine phosphorylation:liver PMID:24619965|REF_RGD_ID:10403061 8831014 Jak2 Janus kinase 2 gene DOID:1577 limited scleroderma ISO RGD:731748 D RGD:9068941 20200609 RGD PMID:20808962|REF_RGD_ID:4892610 8831014 Jak2 Janus kinase 2 gene DOID:182 calcinosis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8831014 Jak2 Janus kinase 2 gene DOID:1920 hyperuricemia treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23442673|REF_RGD_ID:10411892 8831014 Jak2 Janus kinase 2 gene DOID:1936 atherosclerosis ISO RGD:2939 D RGD:9068941 20230615 RGD associated with type 2 diabetes mellitus; mRNA, protein:increased expression, increased phosphorylation:aorta, blood serum (rat) PMID:33889291|REF_RGD_ID:329849122 8831014 Jak2 Janus kinase 2 gene DOID:219 colon cancer treatment ISO RGD:2939 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 8831014 Jak2 Janus kinase 2 gene DOID:2224 essential thrombocythemia ISO RGD:10823 D RGD:9068941 20220825 MouseDO OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 8831014 Jak2 Janus kinase 2 gene DOID:2224 essential thrombocythemia ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15781101|PMID:15858187|PMID:16484586|PMID:16896569|PMID:19154659|PMID:19636672|PMID:20434300|PMID:21942426 8831014 Jak2 Janus kinase 2 gene DOID:2224 essential thrombocythemia severity ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:mutation: :p.V617F (human) PMID:23130336|REF_RGD_ID:10449178 8831014 Jak2 Janus kinase 2 gene DOID:2226 myeloproliferative neoplasm ISO RGD:10823 D RGD:9068941 20220825 MouseDO 8831014 Jak2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:10823 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F PMID:22467227|REF_RGD_ID:15039391 8831014 Jak2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F PMID:22467227|REF_RGD_ID:15039391 8831014 Jak2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19287382|PMID:19287384 8831014 Jak2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:point mutations: :p.S755R, p.R938Q (human) PMID:24398328|REF_RGD_ID:10449375 8831014 Jak2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:9068941 20200609 RGD associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F PMID:22467227|REF_RGD_ID:15039391 8831014 Jak2 Janus kinase 2 gene DOID:2228 thrombocytosis ISO RGD:731748 D RGD:9068941 20200609 RGD essential thrombocythemia, OMIM:187950; DNA:transversion:CDS:1849G>T, amino acid V617F PMID:15781101|REF_RGD_ID:1627655 8831014 Jak2 Janus kinase 2 gene DOID:224 transient cerebral ischemia ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23764464|REF_RGD_ID:8694326 8831014 Jak2 Janus kinase 2 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:731748 D RGD:9068941 20210625 RGD human cells in mouse model PMID:22050790|REF_RGD_ID:127285665 8831014 Jak2 Janus kinase 2 gene DOID:234 colon adenocarcinoma treatment ISO RGD:731748 D RGD:9068941 20210409 RGD Human cell in mouse model PMID:32504672|REF_RGD_ID:125097526 8831014 Jak2 Janus kinase 2 gene DOID:2355 anemia ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:9590174|REF_RGD_ID:737719 8831014 Jak2 Janus kinase 2 gene DOID:3021 acute kidney failure treatment ISO RGD:10823 D RGD:9068941 20210723 RGD associated with Carcinoma, Lewis Lung, human cells in mouse model PMID:31250048|REF_RGD_ID:149735351 8831014 Jak2 Janus kinase 2 gene DOID:3571 liver cancer severity ISO RGD:10823 D RGD:9068941 20200609 RGD mRNA:increased expression:liver,serum (human) PMID:27788478|REF_RGD_ID:18182929 8831014 Jak2 Janus kinase 2 gene DOID:3571 liver cancer severity ISO RGD:2939 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:27788478|REF_RGD_ID:18182929 8831014 Jak2 Janus kinase 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:731748 D RGD:9068941 20210702 RGD protein:increased phosphorylation:esophagus squamous epithelium (human) PMID:32158193|REF_RGD_ID:127285669 8831014 Jak2 Janus kinase 2 gene DOID:3905 lung carcinoma treatment ISO RGD:731748 D RGD:9068941 20210723 RGD human cells in mouse model PMID:26397387|REF_RGD_ID:11529462 8831014 Jak2 Janus kinase 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:731748 D RGD:9068941 20210716 RGD human cells in mouse model PMID:21325979|PMID:25869210|REF_RGD_ID:149735332|REF_RGD_ID:149735342 8831014 Jak2 Janus kinase 2 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:731748 D RGD:9068941 20210716 RGD human cells in mouse model PMID:27025877|REF_RGD_ID:11574134 8831014 Jak2 Janus kinase 2 gene DOID:3948 adrenocortical carcinoma ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 8831014 Jak2 Janus kinase 2 gene DOID:4033 bacterial gastritis ISO RGD:731748 D RGD:9068941 20210528 RGD protein:increased expression:stomach (human) PMID:24718681|REF_RGD_ID:126928128 8831014 Jak2 Janus kinase 2 gene DOID:4079 heart valve disease ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8831014 Jak2 Janus kinase 2 gene DOID:4971 myelofibrosis ISO RGD:731748 D RGD:7240710 20180130 OMIM 8831014 Jak2 Janus kinase 2 gene DOID:4971 myelofibrosis ISO RGD:731748 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8831014 Jak2 Janus kinase 2 gene DOID:4971 myelofibrosis treatment ISO RGD:731748 D RGD:9068941 20200609 RGD PMID:22796437|REF_RGD_ID:10449377 8831014 Jak2 Janus kinase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:10823 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:26385087|REF_RGD_ID:18337263 8831014 Jak2 Janus kinase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:2939 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:26385087|REF_RGD_ID:18337263 8831014 Jak2 Janus kinase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:26385087|REF_RGD_ID:18337263 8831014 Jak2 Janus kinase 2 gene DOID:5327 retinal detachment ISO RGD:2939 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:retina PMID:22251399|REF_RGD_ID:10411890 8831014 Jak2 Janus kinase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8831014 Jak2 Janus kinase 2 gene DOID:5434 scrapie ISO RGD:10823 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17897356|REF_RGD_ID:6483034 8831014 Jak2 Janus kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8831014 Jak2 Janus kinase 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:22749532|REF_RGD_ID:10403083 8831014 Jak2 Janus kinase 2 gene DOID:630 genetic disease ISO RGD:731748 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8831014 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:10823 D RGD:9068941 20210625 RGD associated with Diseases of the Aged and non-alcoholic fatty liver disease PMID:31393852|REF_RGD_ID:127285655 8831014 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:10823 D RGD:9068941 20210625 RGD protein:increased phosphorylation:liver (mouse) PMID:22821478|REF_RGD_ID:127285621 8831014 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:10823 D RGD:9068941 20210702 RGD L-JAK2 KO PMID:28100771|REF_RGD_ID:127285675 8831014 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:731748 D RGD:9068941 20210528 RGD protein:increased phosphorylation:liver (human) PMID:22392353|REF_RGD_ID:125097525 8831014 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:10823 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25420511|REF_RGD_ID:18182928 8831014 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:2939 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25420511|REF_RGD_ID:18182928 8831014 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:25420511|REF_RGD_ID:18182928 8831014 Jak2 Janus kinase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2939 D RGD:9068941 20210716 RGD PMID:29486150|REF_RGD_ID:127285672 8831014 Jak2 Janus kinase 2 gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) PMID:20627814|REF_RGD_ID:6483025 8831014 Jak2 Janus kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:21510883|REF_RGD_ID:6483024 8831014 Jak2 Janus kinase 2 gene DOID:8432 polycythemia ISO RGD:731748 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8831014 Jak2 Janus kinase 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:731748 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8831014 Jak2 Janus kinase 2 gene DOID:8577 ulcerative colitis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799|PMID:21297633 8831014 Jak2 Janus kinase 2 gene DOID:8577 ulcerative colitis ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNP: :rs10758669 (human) PMID:22269120|REF_RGD_ID:6483020 8831014 Jak2 Janus kinase 2 gene DOID:8778 Crohn's disease ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNP: :rs10758669 (human) PMID:22269120|REF_RGD_ID:6483020 8831014 Jak2 Janus kinase 2 gene DOID:8997 polycythemia vera ISO RGD:731748 D RGD:7240710 20180130 OMIM 8831014 Jak2 Janus kinase 2 gene DOID:8997 polycythemia vera ISO RGD:731748 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8831014 Jak2 Janus kinase 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23274522|REF_RGD_ID:10411896 8831014 Jak2 Janus kinase 2 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2939 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 8831014 Jak2 Janus kinase 2 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 8831014 Jak2 Janus kinase 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:731748 D RGD:9068941 20210611 RGD associated with stomach cancer, human cells in mouse model PMID:28186964|REF_RGD_ID:127229952 8831014 Jak2 Janus kinase 2 gene DOID:9000998 Brain Injuries ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:21596098|REF_RGD_ID:6483023 8831014 Jak2 Janus kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10823 D RGD:9068941 20200609 RGD protein:increased expression, increased tyrosine phosphorylation:liver PMID:24619965|REF_RGD_ID:10403061 8831014 Jak2 Janus kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2939 D RGD:9068941 20200609 RGD protein:increased expression, increased tyrosine phosphorylation:liver PMID:24619965|REF_RGD_ID:10403061 8831014 Jak2 Janus kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8831014 Jak2 Janus kinase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 8831014 Jak2 Janus kinase 2 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:22288937|REF_RGD_ID:10403073 8831014 Jak2 Janus kinase 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22745068|REF_RGD_ID:10403082 8831014 Jak2 Janus kinase 2 gene DOID:9002211 Hyperalgesia ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:18636982|REF_RGD_ID:6483031 8831014 Jak2 Janus kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:10823 D RGD:9068941 20200609 RGD associated with Diabetic Neuropathies PMID:23511693|REF_RGD_ID:10403050 8831014 Jak2 Janus kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8831014 Jak2 Janus kinase 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:22339472|REF_RGD_ID:10403066 8831014 Jak2 Janus kinase 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:22800927|PMID:23711144|REF_RGD_ID:10403074|REF_RGD_ID:10403081 8831014 Jak2 Janus kinase 2 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:731748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:18805579|PMID:19470474|PMID:20585391|PMID:22368270|PMID:22955920 8831014 Jak2 Janus kinase 2 gene DOID:9002720 Splenomegaly ISO RGD:731748 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8831014 Jak2 Janus kinase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:22066025|REF_RGD_ID:6483041 8831014 Jak2 Janus kinase 2 gene DOID:9003121 Thromboembolism ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636672 8831014 Jak2 Janus kinase 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989398 8831014 Jak2 Janus kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27470402 8831014 Jak2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20434300 8831014 Jak2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs12342421, rs12343867 (human) PMID:23845539|REF_RGD_ID:10449376 8831014 Jak2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:mutation: :p.V617F (human) PMID:17059429|REF_RGD_ID:10449391 8831014 Jak2 Janus kinase 2 gene DOID:9003871 Venous Thrombosis no_association ISO RGD:731748 D RGD:9068941 20200609 RGD DNA:SNP: :rs10974944 (human) PMID:23845539|REF_RGD_ID:10449376 8831014 Jak2 Janus kinase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:20440769|REF_RGD_ID:6483026 8831014 Jak2 Janus kinase 2 gene DOID:9004276 Thrombocythemia 3 ISO RGD:731748 D RGD:7240710 20180130 OMIM 8831014 Jak2 Janus kinase 2 gene DOID:9004276 Thrombocythemia 3 ISO RGD:731748 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:30811597|PMID:32581362 8831014 Jak2 Janus kinase 2 gene DOID:9004484 Sepsis treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:24228589|REF_RGD_ID:10411888 8831014 Jak2 Janus kinase 2 gene DOID:9004702 Pregnancy Complications ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636672 8831014 Jak2 Janus kinase 2 gene DOID:9005372 Inflammation ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20943775 8831014 Jak2 Janus kinase 2 gene DOID:9006257 Growth Disorders ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic;protein:decreased expression:epiphyseal plate PMID:23715123|REF_RGD_ID:10403065 8831014 Jak2 Janus kinase 2 gene DOID:9007096 Stroke ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:18079966|REF_RGD_ID:6483032 8831014 Jak2 Janus kinase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15746188|PMID:16214533 8831014 Jak2 Janus kinase 2 gene DOID:9007346 Cachexia treatment ISO RGD:10823 D RGD:9068941 20210709 RGD associated with colon adenocarcinoma PMID:28489606|REF_RGD_ID:127285673 8831014 Jak2 Janus kinase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731748 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35568132 8831014 Jak2 Janus kinase 2 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:22777122|REF_RGD_ID:10403072 8831014 Jak2 Janus kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23796350|REF_RGD_ID:8694332 8831014 Jak2 Janus kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23747931|REF_RGD_ID:10403071 8831014 Jak2 Janus kinase 2 gene DOID:9007842 Sepsis-Associated Encephalopathy treatment ISO RGD:2939 D RGD:9068941 20200609 RGD PMID:23236988|REF_RGD_ID:10403076 8831014 Jak2 Janus kinase 2 gene DOID:9008104 Cancer Pain treatment ISO RGD:2939 D RGD:9068941 20210716 RGD PMID:30027795|REF_RGD_ID:149735350 8831014 Jak2 Janus kinase 2 gene DOID:9008691 Liver Injury treatment ISO RGD:2939 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute PMID:24161994|REF_RGD_ID:8694328 8831014 Jak2 Janus kinase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:21880982|REF_RGD_ID:6483022 8831014 Jak2 Janus kinase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731748 D RGD:7240710 20180130 OMIM 8831014 Jak2 Janus kinase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:731748 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8831014 Jak2 Janus kinase 2 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:731748 D RGD:9068941 20210716 RGD protein:increased expression:mucosa of nasopharynx (human) PMID:30123088|REF_RGD_ID:149735327 8831014 Jak2 Janus kinase 2 gene DOID:9452 steatotic liver disease ISO RGD:10823 D RGD:9068941 20200609 RGD PMID:22275361|REF_RGD_ID:6483019 8831014 Jak2 Janus kinase 2 gene DOID:9970 obesity ISO RGD:2939 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus PMID:23397595|REF_RGD_ID:10411893 8831014 Jak2 Janus kinase 2 gene DOID:9970 obesity ISO RGD:731748 D RGD:9068941 20200609 RGD mRNA:decreased expression:omental adipose tissue:by microarray PMID:14630696|REF_RGD_ID:1627661 8831046 Commd8 COMM domain containing 8 gene DOID:630 genetic disease ISO RGD:1313413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831055 Ifi35 interferon induced protein 35 gene DOID:630 genetic disease ISO RGD:1312056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831055 Ifi35 interferon induced protein 35 gene DOID:9001488 Human Influenza ISO RGD:1312056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8831055 Ifi35 interferon induced protein 35 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8831055 Ifi35 interferon induced protein 35 gene DOID:9003281 Spontaneous Abortions ISO RGD:1312056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8831066 Atl3 atlastin GTPase 3 gene DOID:0070154 hereditary sensory neuropathy type 1F ISO RGD:1601766 D RGD:7240710 20180130 OMIM 8831066 Atl3 atlastin GTPase 3 gene DOID:0070154 hereditary sensory neuropathy type 1F ISO RGD:1601766 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1F PMID:16199547|PMID:17576681|PMID:21494555|PMID:24459106|PMID:24736309|PMID:25741868|PMID:28492532|PMID:30564185|PMID:30680846|PMID:9536098 8831066 Atl3 atlastin GTPase 3 gene DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N ISO RGD:1601766 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N PMID:21494555|PMID:28492532 8831066 Atl3 atlastin GTPase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8831066 Atl3 atlastin GTPase 3 gene DOID:10283 prostate cancer ISO RGD:1601766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8831066 Atl3 atlastin GTPase 3 gene DOID:1059 intellectual disability ISO RGD:1601766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8831066 Atl3 atlastin GTPase 3 gene DOID:2843 long QT syndrome ISO RGD:1601766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8831066 Atl3 atlastin GTPase 3 gene DOID:630 genetic disease ISO RGD:1601766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8831095 Bzw1 basic leucine zipper and W2 domains 1 gene DOID:1909 melanoma ISO RGD:1347888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8831095 Bzw1 basic leucine zipper and W2 domains 1 gene DOID:630 genetic disease ISO RGD:1347888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831095 Bzw1 basic leucine zipper and W2 domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8831095 Bzw1 basic leucine zipper and W2 domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8831095 Bzw1 basic leucine zipper and W2 domains 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1347888 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8831113 Adal adenosine deaminase like gene DOID:2717 Bloom syndrome ISO RGD:1605272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8831113 Adal adenosine deaminase like gene DOID:630 genetic disease ISO RGD:1605272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831113 Adal adenosine deaminase like gene DOID:9256 colorectal cancer ISO RGD:1605272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8831141 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:0050444 infantile Refsum disease ISO RGD:1321208 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL 8831141 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:0081274 peroxisome biogenesis disorder 14B ISO RGD:1321208 D RGD:7240710 20180130 OMIM 8831141 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:0081274 peroxisome biogenesis disorder 14B ISO RGD:1321208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PEX11B-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B PMID:10704444|PMID:20826455|PMID:22581968|PMID:25741868|PMID:28129423|PMID:28492532|PMID:31724321 8831141 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1321208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 8831141 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:1540 parathyroid carcinoma ISO RGD:1321208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8831141 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:5419 schizophrenia ISO RGD:1321208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8831141 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:630 genetic disease ISO RGD:1321208 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8831141 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:83 cataract ISO RGD:1321208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 8831141 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:905 Zellweger syndrome ISO RGD:1321208 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum 8831141 Pex11b peroxisomal biogenesis factor 11 beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8831152 Vat1 vesicle amine transport 1 gene DOID:630 genetic disease ISO RGD:1319007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831163 Zpbp2 zona pellucida binding protein 2 gene DOID:0060224 atrial fibrillation ISO RGD:1603918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8831163 Zpbp2 zona pellucida binding protein 2 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1603918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8831163 Zpbp2 zona pellucida binding protein 2 gene DOID:630 genetic disease ISO RGD:1603918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831180 Trim59 tripartite motif containing 59 gene DOID:630 genetic disease ISO RGD:1349912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831180 Trim59 tripartite motif containing 59 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8831190 Lcorl ligand dependent nuclear receptor corepressor like gene DOID:630 genetic disease ISO RGD:1604965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831190 Lcorl ligand dependent nuclear receptor corepressor like gene DOID:9003996 Birth Weight ISO RGD:1604965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349782 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:0050476 Barth syndrome ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:0112003 immunodeficiency 33 ISO RGD:1349782 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:10588 adrenoleukodystrophy ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:12849 autistic disorder ISO RGD:1349782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:13628 favism ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:2729 dyskeratosis congenita ISO RGD:1349782 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:607 paraplegia ISO RGD:1349782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:630 genetic disease ISO RGD:1349782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831237 Fam3a FAM3 metabolism regulating signaling molecule A gene DOID:9002720 Splenomegaly ISO RGD:1349782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8831256 Nts neurotensin gene DOID:11446 sciatic neuropathy ISO RGD:621612 D RGD:9068941 20200609 RGD PMID:8518953|REF_RGD_ID:9743903 8831256 Nts neurotensin gene DOID:1596 depressive disorder ISO RGD:1319092 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8831256 Nts neurotensin gene DOID:3007 breast ductal carcinoma ISO RGD:1319092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8831256 Nts neurotensin gene DOID:630 genetic disease ISO RGD:1319092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831256 Nts neurotensin gene DOID:9000332 Hypovolemia ISO RGD:621612 D RGD:9068941 20200609 RGD mRNA:increased expression:neuron: PMID:7721997|REF_RGD_ID:9727453 8831256 Nts neurotensin gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:621612 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron: PMID:8866516|REF_RGD_ID:9743915 8831256 Nts neurotensin gene DOID:9001480 Muscle Rigidity ISO RGD:1319092 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8036282 8831256 Nts neurotensin gene DOID:9002362 Hyperkinesis ISO RGD:1319092 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3748325|PMID:6682440 8831256 Nts neurotensin gene DOID:9002457 Experimental Arthritis ISO RGD:621612 D RGD:9068941 20200609 RGD PMID:8518953|REF_RGD_ID:9743903 8831256 Nts neurotensin gene DOID:9003805 Catalepsy ISO RGD:1319092 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20882060 8831256 Nts neurotensin gene DOID:9007001 Bradycardia ISO RGD:1319092 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2326505 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:0060041 autism spectrum disorder ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:619557 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:619557 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:10581 metachromatic leukodystrophy ISO RGD:619557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:1059 intellectual disability ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:630 genetic disease ISO RGD:619557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:8986 narcolepsy ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18820697 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:9002189 High Myopia ISO RGD:619557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:9003936 Cardiomegaly ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24330405 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:9007102 Myocardial Ischemia ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8831264 Cpt1b carnitine palmitoyltransferase 1B gene DOID:9007188 Liver Neoplasms ISO RGD:619557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 8831304 Myo1f myosin IF gene DOID:0080490 mucolipidosis type IV ISO RGD:1320254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 8831304 Myo1f myosin IF gene DOID:10003 sensorineural hearing loss ISO RGD:1320254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 8831304 Myo1f myosin IF gene DOID:12849 autistic disorder ISO RGD:1320254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8831304 Myo1f myosin IF gene DOID:630 genetic disease ISO RGD:1320254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831304 Myo1f myosin IF gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8831336 Tpm2 tropomyosin 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1605428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8831336 Tpm2 tropomyosin 2 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8831336 Tpm2 tropomyosin 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1605428 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8831336 Tpm2 tropomyosin 2 gene DOID:0080102 congenital myopathy 4A ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:25741868 8831336 Tpm2 tropomyosin 2 gene DOID:0080600 COVID-19 ISO RGD:1605428 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8831336 Tpm2 tropomyosin 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8831336 Tpm2 tropomyosin 2 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:11738357|PMID:23757202|PMID:25741868|PMID:26467025|PMID:28492532 8831336 Tpm2 tropomyosin 2 gene DOID:0110932 nemaline myopathy 4 ISO RGD:1605428 D RGD:7240710 20180130 OMIM 8831336 Tpm2 tropomyosin 2 gene DOID:0110932 nemaline myopathy 4 ISO RGD:1605428 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cap myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene | ClinVar Annotator: match by term: TPM2-related cap myopathy PMID:11738357|PMID:17846275|PMID:18414213|PMID:18420702|PMID:18422639|PMID:18789687|PMID:19047562|PMID:20301436|PMID:22084935|PMID:22832343|PMID:23401156|PMID:23689010|PMID:23886664|PMID:24033266|PMID:24039757|PMID:24657080|PMID:24692096|PMID:25741868|PMID:25978979|PMID:26467025|PMID:26708479|PMID:27854218|PMID:28492532|PMID:30545627|PMID:31966463|PMID:33060286|PMID:34008892 8831336 Tpm2 tropomyosin 2 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8831336 Tpm2 tropomyosin 2 gene DOID:0111596 distal arthrogryposis type 1 ISO RGD:1605428 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:11738357|PMID:17846275|PMID:18414213|PMID:18420702|PMID:18422639|PMID:18789687|PMID:19155175|PMID:20301436|PMID:22084935|PMID:22832343|PMID:23401156|PMID:23689010|PMID:23886664|PMID:24033266|PMID:24039757|PMID:24657080|PMID:24692096|PMID:25741868|PMID:25978979|PMID:26467025|PMID:26708479|PMID:27726070|PMID:27854218|PMID:28492532|PMID:30545627 8831336 Tpm2 tropomyosin 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1605428 D RGD:7240710 20180130 OMIM 8831336 Tpm2 tropomyosin 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1605428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:11738357|PMID:12592607|PMID:16199547|PMID:17194691|PMID:17339586|PMID:17576681|PMID:17846275|PMID:18414213|PMID:18420702|PMID:18422639|PMID:18789687|PMID:19047562|PMID:19155175|PMID:20301436|PMID:22084935|PMID:22749895|PMID:22832343|PMID:22980765|PMID:23401156|PMID:23678273|PMID:23689010|PMID:23757202|PMID:23886664|PMID:24033266|PMID:24039757|PMID:24214167|PMID:24657080|PMID:24692096|PMID:25741868|PMID:25978979|PMID:26467025|PMID:26708479|PMID:26752647|PMID:27726070|PMID:27854218|PMID:28492532|PMID:30545627|PMID:31966463|PMID:32092148|PMID:33060286|PMID:7977374|PMID:9536098 8831336 Tpm2 tropomyosin 2 gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:1605428 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities PMID:25741868 8831336 Tpm2 tropomyosin 2 gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:25741868 8831336 Tpm2 tropomyosin 2 gene DOID:3191 nemaline myopathy ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Dominant PMID:11738357|PMID:23757202|PMID:25741868|PMID:26467025|PMID:28492532 8831336 Tpm2 tropomyosin 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8831336 Tpm2 tropomyosin 2 gene DOID:630 genetic disease ISO RGD:1605428 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8831336 Tpm2 tropomyosin 2 gene DOID:9001483 Distal Arthrogryposis Type 2B4 ISO RGD:1605428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4 PMID:17339586|PMID:23678273|PMID:24692096|PMID:25741868|PMID:27726070|PMID:28492532|PMID:30285720|PMID:32092148 8831336 Tpm2 tropomyosin 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605428 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8831336 Tpm2 tropomyosin 2 gene DOID:9870 galactosemia ISO RGD:1605428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8831349 Dap3 death associated protein 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8831349 Dap3 death associated protein 3 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1313309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 8831349 Dap3 death associated protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8831349 Dap3 death associated protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8831349 Dap3 death associated protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8831349 Dap3 death associated protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8831349 Dap3 death associated protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8831349 Dap3 death associated protein 3 gene DOID:630 genetic disease ISO RGD:1313309 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8831349 Dap3 death associated protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1313309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8831349 Dap3 death associated protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8831366 Hcrtr1 hypocretin receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:734418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20667500 8831366 Hcrtr1 hypocretin receptor 1 gene DOID:630 genetic disease ISO RGD:734418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831366 Hcrtr1 hypocretin receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16357203|PMID:19591850|PMID:19741128 8831386 Rho rhodopsin gene DOID:0050534 congenital stationary night blindness ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant PMID:28492532 8831386 Rho rhodopsin gene DOID:0050572 cone-rod dystrophy ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11139241|PMID:12871954|PMID:17488458|PMID:19913029|PMID:21094163|PMID:21219898|PMID:25741868|PMID:28492532|PMID:29847639|PMID:30240733|PMID:30718709|PMID:7981701|PMID:8088850|PMID:9380676 8831386 Rho rhodopsin gene DOID:0050578 occult macular dystrophy ISO RGD:731395 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Occult macular dystrophy PMID:1882937|PMID:20591486|PMID:2215617|PMID:25265376|PMID:25741868|PMID:28492532|PMID:30977563|PMID:8486634 8831386 Rho rhodopsin gene DOID:0050817 Stargardt disease ISO RGD:731395 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STGD PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8831386 Rho rhodopsin gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:731395 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:17936999|PMID:23484092|PMID:25741868|PMID:28492532|PMID:30977563 8831386 Rho rhodopsin gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:28492532 8831386 Rho rhodopsin gene DOID:0110372 retinitis pigmentosa 4 ISO RGD:731395 D RGD:7240710 20180130 OMIM 8831386 Rho rhodopsin gene DOID:0110372 retinitis pigmentosa 4 ISO RGD:731395 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 4 | ClinVar Annotator: match by term: Retinitis pigmentosa 4, autosomal recessive PMID:10874327|PMID:10967073|PMID:10980774|PMID:11094174|PMID:11139241|PMID:11141431|PMID:11879142|PMID:11910130|PMID:12091393|PMID:12660238|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1302614|PMID:1303237|PMID:1356370|PMID:1418997|PMID:14769795|PMID:1484692|PMID:15126168|PMID:15145060|PMID:15232620|PMID:15509574|PMID:1580841|PMID:16170112|PMID:16737970|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:1808803|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:1929926|PMID:1985460|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:19958124|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20532191|PMID:20555336|PMID:20805032|PMID:20832389|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:2137202|PMID:21677794|PMID:21922596|PMID:22110080|PMID:2215617|PMID:22252712|PMID:22321012|PMID:22323724|PMID:22334370|PMID:2239971|PMID:22791210|PMID:22956602|PMID:22968130|PMID:23221340|PMID:23288993|PMID:2333895|PMID:23484092|PMID:23591405|PMID:23625926|PMID:24265693|PMID:24520188|PMID:24853414|PMID:24935155|PMID:24938718|PMID:25096327|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25356976|PMID:25359768|PMID:25366773|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25999674|PMID:2613244|PMID:26202387|PMID:26887858|PMID:26962691|PMID:27624628|PMID:27694816|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29453956|PMID:29463953|PMID:29847639|PMID:29890221|PMID:30029497|PMID:30240733|PMID:30538586|PMID:30718709|PMID:30972525|PMID:30977563|PMID:31087526|PMID:31100078|PMID:31213501|PMID:31319082|PMID:31456290|PMID:31877679|PMID:31908405|PMID:32013026|PMID:32037395|PMID:32531858|PMID:32581362|PMID:33247286|PMID:33576794|PMID:34906470|PMID:36909829|PMID:7523628|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8081400|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:8943080|PMID:9197578|PMID:9342608|PMID:9380676|PMID:9452035|PMID:9483582|PMID:9536098|PMID:9724753|PMID:9810568 8831386 Rho rhodopsin gene DOID:0110862 congenital stationary night blindness autosomal dominant 1 ISO RGD:731395 D RGD:7240710 20180130 OMIM 8831386 Rho rhodopsin gene DOID:0110862 congenital stationary night blindness autosomal dominant 1 ISO RGD:731395 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 1 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED PMID:10521250|PMID:10967073|PMID:11139241|PMID:11879142|PMID:12091393|PMID:12860986|PMID:12871954|PMID:1418997|PMID:14769795|PMID:14971589|PMID:15126168|PMID:15509574|PMID:16123440|PMID:16767206|PMID:17488458|PMID:18175313|PMID:18987202|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:20591486|PMID:20805032|PMID:21094163|PMID:21217109|PMID:21219898|PMID:2137202|PMID:22110080|PMID:22164218|PMID:22321012|PMID:22323724|PMID:2239971|PMID:22995991|PMID:24760071|PMID:24853414|PMID:2509724|PMID:25097241|PMID:25741868|PMID:25999674|PMID:26202387|PMID:26962691|PMID:27458239|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31319082|PMID:33347869|PMID:33669941|PMID:36909829|PMID:7846071|PMID:7981701|PMID:8081400|PMID:8088850|PMID:8107847|PMID:8317502|PMID:8358437|PMID:9050844|PMID:9380676|PMID:9618546|PMID:9810568|PMID:9888392 8831386 Rho rhodopsin gene DOID:0111947 immunodeficiency 21 ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8831386 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:19913029|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22995991|PMID:23591405|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31908405|PMID:33576794|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546 8831386 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:1580841|PMID:16123440|PMID:16767206|PMID:17488458|PMID:17576681|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:19913029|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22995991|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25525159|PMID:25741868|PMID:25999674|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:33576794|PMID:7981701|PMID:7987326|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546 8831386 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:15126168|PMID:1580841|PMID:16123440|PMID:16737970|PMID:16767206|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:19913029|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22252712|PMID:22791210|PMID:22968130|PMID:22995991|PMID:23221340|PMID:23591405|PMID:23625926|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26887858|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31319082|PMID:31456290|PMID:31908405|PMID:32037395|PMID:32581362|PMID:33576794|PMID:34906470|PMID:36909829|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546|PMID:9810568 8831386 Rho rhodopsin gene DOID:10584 retinitis pigmentosa ISO RGD:731395 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10521250|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11141431|PMID:12660238|PMID:12860986|PMID:12871954|PMID:12966518|PMID:1301135|PMID:1303237|PMID:1484692|PMID:14971589|PMID:15126168|PMID:1580841|PMID:16123440|PMID:16737970|PMID:16767206|PMID:16799052|PMID:17014888|PMID:17488458|PMID:17576681|PMID:1765377|PMID:1783387|PMID:18175313|PMID:1833777|PMID:1840561|PMID:1862076|PMID:1882937|PMID:1897520|PMID:19085385|PMID:1924344|PMID:19913029|PMID:19960070|PMID:20164459|PMID:20525296|PMID:20555336|PMID:20591486|PMID:21077204|PMID:21094163|PMID:21174529|PMID:21217109|PMID:21219898|PMID:21352497|PMID:21357407|PMID:21922596|PMID:2215617|PMID:22164218|PMID:22252712|PMID:22791210|PMID:22968130|PMID:22995991|PMID:23221340|PMID:23591405|PMID:23625926|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24760071|PMID:24935155|PMID:24938718|PMID:2509724|PMID:25097241|PMID:25101269|PMID:25221422|PMID:25408095|PMID:25525159|PMID:25741868|PMID:25999674|PMID:26887858|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28524165|PMID:28559085|PMID:28981474|PMID:29068140|PMID:29099798|PMID:29847639|PMID:29890221|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31100078|PMID:31319082|PMID:31456290|PMID:31908405|PMID:32037395|PMID:32581362|PMID:33576794|PMID:34906470|PMID:36909829|PMID:7724183|PMID:7981701|PMID:7987326|PMID:7987331|PMID:7987385|PMID:8045708|PMID:8088850|PMID:8240107|PMID:8253795|PMID:8317502|PMID:8328469|PMID:8353500|PMID:8401533|PMID:8406457|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9050844|PMID:9197578|PMID:9380676|PMID:9483582|PMID:9536098|PMID:9618546|PMID:9810568 8831386 Rho rhodopsin gene DOID:10584 retinitis pigmentosa treatment ISO RGD:11239 D RGD:9068941 20200609 RGD PMID:17083931|PMID:21126223|REF_RGD_ID:8547992|REF_RGD_ID:8548552 8831386 Rho rhodopsin gene DOID:10584 retinitis pigmentosa treatment ISO RGD:731395 D RGD:9068941 20200609 RGD PMID:21268285|REF_RGD_ID:8548515 8831386 Rho rhodopsin gene DOID:11105 fundus albipunctatus ISO RGD:731395 D RGD:7240710 20180130 OMIM 8831386 Rho rhodopsin gene DOID:11105 fundus albipunctatus ISO RGD:731395 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10967073|PMID:12660238|PMID:12966518|PMID:1484692|PMID:16767206|PMID:18175313|PMID:1833777|PMID:1862076|PMID:1882937|PMID:18987202|PMID:1924344|PMID:20525296|PMID:21077204|PMID:21217109|PMID:21352497|PMID:21677794|PMID:21922596|PMID:25101269|PMID:25741868|PMID:25999674|PMID:27458239|PMID:28492532|PMID:28559085|PMID:30718709|PMID:30977563|PMID:31319082|PMID:33669941|PMID:36909829|PMID:7846071|PMID:7987331|PMID:8107847|PMID:8554077|PMID:8841304|PMID:9197578|PMID:9380676 8831386 Rho rhodopsin gene DOID:630 genetic disease ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8831386 Rho rhodopsin gene DOID:7765 Coats disease ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:10967073|PMID:25741868|PMID:28492532|PMID:30977563|PMID:7987331|PMID:9380676 8831386 Rho rhodopsin gene DOID:8466 retinal degeneration ISO RGD:731395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:28492532|PMID:30972525 8831386 Rho rhodopsin gene DOID:8499 night blindness ISO RGD:731395 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Night blindness PMID:20555336|PMID:2215617|PMID:25221422|PMID:25741868|PMID:28041643|PMID:28492532|PMID:36909829 8831386 Rho rhodopsin gene DOID:8501 fundus dystrophy ISO RGD:731395 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10189219|PMID:10967073|PMID:11094174|PMID:11139241|PMID:11879142|PMID:12091393|PMID:12660238|PMID:1301135|PMID:1302614|PMID:1303237|PMID:1418997|PMID:14769795|PMID:1484692|PMID:15126168|PMID:15509574|PMID:1580841|PMID:16170112|PMID:16799052|PMID:17014888|PMID:17488458|PMID:1765377|PMID:1808803|PMID:18175313|PMID:1833777|PMID:1862076|PMID:1882937|PMID:1897520|PMID:1924344|PMID:1929926|PMID:1985460|PMID:1987955|PMID:1987956|PMID:19913029|PMID:19933196|PMID:20164459|PMID:20555336|PMID:20805032|PMID:21094163|PMID:21174529|PMID:21352497|PMID:2137202|PMID:22110080|PMID:2215617|PMID:22164218|PMID:22321012|PMID:22323724|PMID:22334370|PMID:2239971|PMID:2333895|PMID:23940033|PMID:24106275|PMID:24265693|PMID:24520188|PMID:24853414|PMID:24935155|PMID:25101269|PMID:25221422|PMID:25366773|PMID:25741868|PMID:2613244|PMID:26202387|PMID:26962691|PMID:28041643|PMID:28076437|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29099798|PMID:29453956|PMID:29847639|PMID:30240733|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31319082|PMID:31877679|PMID:31908405|PMID:31960602|PMID:32037395|PMID:32531858|PMID:33347869|PMID:33576794|PMID:34906470|PMID:36909829|PMID:7724183|PMID:7987326|PMID:8081400|PMID:8088850|PMID:8253795|PMID:8328469|PMID:8554077|PMID:8841304|PMID:8905849|PMID:9010870|PMID:9197578|PMID:9452035|PMID:9724753|PMID:9810568 8831386 Rho rhodopsin gene DOID:9004832 Congenital Hypomyelinating Neuropathy 2 ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2 PMID:17825553 8831386 Rho rhodopsin gene DOID:9006630 Stargardt Disease 1 ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8831386 Rho rhodopsin gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8831386 Rho rhodopsin gene DOID:9270 alkaptonuria ISO RGD:731395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8831395 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8831395 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8831395 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8831395 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:0070444 neurodevelopmental disorder with language delay and seizures ISO RGD:1316657 D RGD:7240710 20221116 OMIM 8831395 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:0070444 neurodevelopmental disorder with language delay and seizures ISO RGD:1316657 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and seizures PMID:35240055 8831395 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1316657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27862620 8831395 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:630 genetic disease ISO RGD:1316657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831395 Tiam1 TIAM Rac1 associated GEF 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1316657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27862620 8831437 Erp44 endoplasmic reticulum protein 44 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8831437 Erp44 endoplasmic reticulum protein 44 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8831437 Erp44 endoplasmic reticulum protein 44 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8831437 Erp44 endoplasmic reticulum protein 44 gene DOID:0111113 nephronophthisis 2 ISO RGD:1319370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis PMID:25741868 8831437 Erp44 endoplasmic reticulum protein 44 gene DOID:1059 intellectual disability ISO RGD:1319370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8831437 Erp44 endoplasmic reticulum protein 44 gene DOID:12712 nephronophthisis ISO RGD:1319370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8831437 Erp44 endoplasmic reticulum protein 44 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1319370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8831437 Erp44 endoplasmic reticulum protein 44 gene DOID:630 genetic disease ISO RGD:1319370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831437 Erp44 endoplasmic reticulum protein 44 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29525178|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33424531|PMID:33502061|PMID:34122524|PMID:34169998|PMID:34426522|PMID:36133075|PMID:9536098 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1322801 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33424531|PMID:33502061|PMID:33770234|PMID:34122524|PMID:34169998|PMID:34426522|PMID:36133075|PMID:9536098 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060202 amyotrophic lateral sclerosis type 11 ISO RGD:1322801 D RGD:7240710 20180130 OMIM 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060202 amyotrophic lateral sclerosis type 11 ISO RGD:1322801 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11 PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060589 Yunis-Varon syndrome ISO RGD:1322801 D RGD:7240710 20180130 OMIM 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0060589 Yunis-Varon syndrome ISO RGD:1322801 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Yunis-Varon syndrome PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:18758830|PMID:19118816|PMID:20301641|PMID:20630877|PMID:20932945|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:2319578|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24598713|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33424531|PMID:36133075|PMID:7496176|PMID:9536098 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria ISO RGD:1322801 D RGD:7240710 20180130 OMIM 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria ISO RGD:1322801 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria | ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital PMID:17572665|PMID:18180444|PMID:18261132|PMID:18556664|PMID:18758830|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24598713|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29468183|PMID:29518270|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:32022442|PMID:32376792|PMID:32385536 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0110184 Charcot-Marie-Tooth disease type 4J ISO RGD:1322801 D RGD:7240710 20180130 OMIM 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0110184 Charcot-Marie-Tooth disease type 4J ISO RGD:1322801 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33424531|PMID:33502061|PMID:34426522|PMID:36133075|PMID:9536098 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322801 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16199547|PMID:17572665|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23336365|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28051077|PMID:28492532|PMID:29518270|PMID:30740813|PMID:31313076|PMID:32385536|PMID:33424531|PMID:36133075|PMID:9536098 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322801 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:2319578|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25299611|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29468183|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:32022442|PMID:32376792|PMID:7496176|PMID:9536098 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:630 genetic disease ISO RGD:1322801 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:34169998|PMID:34426522|PMID:9536098 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:9000495 Tremor ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:21705420|PMID:28492532 8831464 Fig4 FIG4 phosphoinositide 5-phosphatase gene DOID:9001276 Failure to Thrive ISO RGD:1322801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 8831491 Lpar6 lysophosphatidic acid receptor 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1349646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8831491 Lpar6 lysophosphatidic acid receptor 6 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1349646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 8831491 Lpar6 lysophosphatidic acid receptor 6 gene DOID:0110698 hypotrichosis 1 ISO RGD:1349646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18297070 8831491 Lpar6 lysophosphatidic acid receptor 6 gene DOID:0110705 hypotrichosis 8 ISO RGD:1349646 D RGD:7240710 20220216 OMIM 8831491 Lpar6 lysophosphatidic acid receptor 6 gene DOID:0110705 hypotrichosis 8 ISO RGD:1349646 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hypotrichosis 8 PMID:18297070|PMID:18297072|PMID:18461368|PMID:18692127|PMID:19292720|PMID:21070332|PMID:21426374|PMID:25119526|PMID:25741868|PMID:28425126|PMID:36173926 8831491 Lpar6 lysophosphatidic acid receptor 6 gene DOID:1059 intellectual disability ISO RGD:1349646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8831491 Lpar6 lysophosphatidic acid receptor 6 gene DOID:4535 hypotrichosis ISO RGD:1349646 D RGD:9068941 20220217 CTD CTD Direct Evidence: marker/mechanism PMID:18297072 8831491 Lpar6 lysophosphatidic acid receptor 6 gene DOID:630 genetic disease ISO RGD:1349646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831491 Lpar6 lysophosphatidic acid receptor 6 gene DOID:768 retinoblastoma ISO RGD:1349646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:15877282|PMID:17096365|PMID:17301081|PMID:21505449|PMID:22909775|PMID:23301675|PMID:25640679|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 8831491 Lpar6 lysophosphatidic acid receptor 6 gene DOID:768 retinoblastoma ISO RGD:1349646 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:17096365|PMID:21505449|PMID:22909775|PMID:23301675|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 8831491 Lpar6 lysophosphatidic acid receptor 6 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:1349646 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis PMID:18297072|PMID:18461368|PMID:19292720|PMID:21426374|PMID:25741868|PMID:36173926 8831496 Ccdc34 coiled-coil domain containing 34 gene DOID:0111910 spermatogenic failure ISO RGD:1619187 D RGD:9068941 20230323 MouseDO 8831496 Ccdc34 coiled-coil domain containing 34 gene DOID:1059 intellectual disability ISO RGD:1606993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8831496 Ccdc34 coiled-coil domain containing 34 gene DOID:630 genetic disease ISO RGD:1606993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831496 Ccdc34 coiled-coil domain containing 34 gene DOID:9002551 Spermatogenic Failure 76 ISO RGD:1606993 D RGD:7240710 20221102 OMIM 8831496 Ccdc34 coiled-coil domain containing 34 gene DOID:9002551 Spermatogenic Failure 76 ISO RGD:1606993 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 76 PMID:34348960 8831527 Gja9 gap junction protein alpha 9 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1353099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8831527 Gja9 gap junction protein alpha 9 gene DOID:630 genetic disease ISO RGD:1353099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831533 Gid8 GID complex subunit 8 homolog gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8831533 Gid8 GID complex subunit 8 homolog gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1346039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8831533 Gid8 GID complex subunit 8 homolog gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1346039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8831533 Gid8 GID complex subunit 8 homolog gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1346039 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8831533 Gid8 GID complex subunit 8 homolog gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8831533 Gid8 GID complex subunit 8 homolog gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8831533 Gid8 GID complex subunit 8 homolog gene DOID:630 genetic disease ISO RGD:1346039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831553 Fadd Fas associated via death domain gene DOID:0060108 brain glioma treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:27255231|REF_RGD_ID:13792502 8831553 Fadd Fas associated via death domain gene DOID:0060482 oculoauricular syndrome ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 8831553 Fadd Fas associated via death domain gene DOID:10003 sensorineural hearing loss ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 8831553 Fadd Fas associated via death domain gene DOID:1059 intellectual disability ISO RGD:1345195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8831553 Fadd Fas associated via death domain gene DOID:10652 Alzheimer's disease ISO RGD:1345195 D RGD:9068941 20200609 RGD PMID:16085017|REF_RGD_ID:13782385 8831553 Fadd Fas associated via death domain gene DOID:10763 hypertension treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:24355328|REF_RGD_ID:11344883 8831553 Fadd Fas associated via death domain gene DOID:11132 prostatic hypertrophy treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:27441629|REF_RGD_ID:13792501 8831553 Fadd Fas associated via death domain gene DOID:1240 leukemia ISO RGD:1345195 D RGD:9068941 20200609 RGD DNA:SNP: :rs7939734 (human) PMID:22244917|REF_RGD_ID:11341800 8831553 Fadd Fas associated via death domain gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:27131981|REF_RGD_ID:13792503 8831553 Fadd Fas associated via death domain gene DOID:1596 depressive disorder treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:30138765|REF_RGD_ID:13792497 8831553 Fadd Fas associated via death domain gene DOID:224 transient cerebral ischemia ISO RGD:628700 D RGD:9068941 20220527 RGD mRNA,protein:increased expression:cerebral cortex: PMID:18096138|REF_RGD_ID:4142863 8831553 Fadd Fas associated via death domain gene DOID:2560 morphine dependence severity ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:21088039|REF_RGD_ID:11341805 8831553 Fadd Fas associated via death domain gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:23378241|REF_RGD_ID:11344885 8831553 Fadd Fas associated via death domain gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:732106 D RGD:9068941 20200609 RGD PMID:18950622|REF_RGD_ID:11341807 8831553 Fadd Fas associated via death domain gene DOID:630 genetic disease ISO RGD:1345195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831553 Fadd Fas associated via death domain gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:23574812|REF_RGD_ID:11344882 8831553 Fadd Fas associated via death domain gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:26769958|REF_RGD_ID:13792505 8831553 Fadd Fas associated via death domain gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16450001 8831553 Fadd Fas associated via death domain gene DOID:9001349 Stomatognathic Diseases ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 8831553 Fadd Fas associated via death domain gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:23423194|REF_RGD_ID:8661760 8831553 Fadd Fas associated via death domain gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:29635023|REF_RGD_ID:13782292 8831553 Fadd Fas associated via death domain gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1345195 D RGD:7240710 20180130 OMIM 8831553 Fadd Fas associated via death domain gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1345195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FADD DEFICIENCY | ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:21109225|PMID:25326637|PMID:25794656|PMID:28492532|PMID:32350755 8831553 Fadd Fas associated via death domain gene DOID:9004610 Acute Lung Injury treatment ISO RGD:628700 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:24122010|REF_RGD_ID:11341811 8831553 Fadd Fas associated via death domain gene DOID:9004786 Carbon Tetrachloride Poisoning treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:25687490|REF_RGD_ID:11341810 8831553 Fadd Fas associated via death domain gene DOID:9006646 Metabolic Syndrome ISO RGD:628700 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:23657904|REF_RGD_ID:11344884 8831553 Fadd Fas associated via death domain gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:25447754|PMID:26062544|REF_RGD_ID:10053709|REF_RGD_ID:11341803 8831553 Fadd Fas associated via death domain gene DOID:9007480 Hyperoxia ISO RGD:628700 D RGD:9068941 20200609 RGD protein:increased expression:thalamus PMID:19107989|REF_RGD_ID:8662854 8831553 Fadd Fas associated via death domain gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732106 D RGD:9068941 20200609 RGD PMID:26038570|REF_RGD_ID:11341801 8831553 Fadd Fas associated via death domain gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:628700 D RGD:9068941 20200609 RGD PMID:26948086|REF_RGD_ID:13792504 8831553 Fadd Fas associated via death domain gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1345195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8831553 Fadd Fas associated via death domain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1345195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656375 8831553 Fadd Fas associated via death domain gene DOID:9009219 Diabetic Embryopathy ISO RGD:732106 D RGD:9068941 20200609 RGD PMID:26419589|REF_RGD_ID:13792560 8831553 Fadd Fas associated via death domain gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1345195 D RGD:9068941 20200609 RGD PMID:15520222|REF_RGD_ID:11341799 8831553 Fadd Fas associated via death domain gene DOID:9970 obesity ISO RGD:628700 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:18202171|REF_RGD_ID:2293027 8831559 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1343894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8831559 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1343894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8831559 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:10327 anthracosis ISO RGD:1343894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394417 8831559 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1343894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831559 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1343894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8831559 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8831559 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1343894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8831559 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1343894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8831559 Flacc1 flagellum associated containing coiled-coil domains 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1343894 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8831578 Pigv phosphatidylinositol glycan anchor biosynthesis class V gene DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome ISO RGD:1349310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome | ClinVar Annotator: match by term: MABRY SYNDROME PMID:1724113|PMID:20578257|PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:28492532|PMID:28688840 8831578 Pigv phosphatidylinositol glycan anchor biosynthesis class V gene DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 ISO RGD:1349310 D RGD:7240710 20180130 OMIM 8831578 Pigv phosphatidylinositol glycan anchor biosynthesis class V gene DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 ISO RGD:1349310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: MABRY SYNDROME PMID:1724113|PMID:17351347|PMID:20578257|PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28688840 8831578 Pigv phosphatidylinositol glycan anchor biosynthesis class V gene DOID:0080036 SOST-related sclerosing bone dysplasia ISO RGD:1349310 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Elevated alkaline phosphatase PMID:28492532 8831578 Pigv phosphatidylinositol glycan anchor biosynthesis class V gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1349310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8831578 Pigv phosphatidylinositol glycan anchor biosynthesis class V gene DOID:630 genetic disease ISO RGD:1349310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1724113|PMID:20578257|PMID:20802478|PMID:21739589|PMID:22228761|PMID:22315194|PMID:24033266|PMID:24129430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28688840|PMID:28817240 8831598 Poln DNA polymerase nu gene DOID:10283 prostate cancer ISO RGD:1354283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8831598 Poln DNA polymerase nu gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1354283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8831598 Poln DNA polymerase nu gene DOID:1856 cherubism ISO RGD:1354283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8831598 Poln DNA polymerase nu gene DOID:630 genetic disease ISO RGD:1354283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831627 Dcaf13 DDB1 and CUL4 associated factor 13 gene DOID:0111590 Cohen syndrome ISO RGD:1604028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8831627 Dcaf13 DDB1 and CUL4 associated factor 13 gene DOID:630 genetic disease ISO RGD:1604028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831646 Mttp microsomal triglyceride transfer protein gene DOID:0060041 autism spectrum disorder ISO RGD:1318126 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8831646 Mttp microsomal triglyceride transfer protein gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1318126 D RGD:9068941 20200609 RGD PMID:15094225|REF_RGD_ID:1581245 8831646 Mttp microsomal triglyceride transfer protein gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1318126 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 8831646 Mttp microsomal triglyceride transfer protein gene DOID:10763 hypertension onset ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-493G>T PMID:16328015|REF_RGD_ID:1625485 8831646 Mttp microsomal triglyceride transfer protein gene DOID:1168 familial hyperlipidemia ISO RGD:1308388 D RGD:9068941 20200609 RGD PMID:12191589|REF_RGD_ID:1625489 8831646 Mttp microsomal triglyceride transfer protein gene DOID:1386 abetalipoproteinemia ISO RGD:1318126 D RGD:7240710 20190315 OMIM 8831646 Mttp microsomal triglyceride transfer protein gene DOID:1386 abetalipoproteinemia ISO RGD:1318126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: Betalipoprotein deficiency disease | ClinVar Annotator: match by term: MTP DEFICIENCY | ClinVar Annotator: match by term: MTTP-related condition | ClinVar Annotator: match by term: Microsomal triglyceride transfer protein deficiency disease | ClinVar Annotator: match by term: Microsomal-triglyceride transfer protein deficiency PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16199547|PMID:16721486|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:32041611|PMID:33258201|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739 8831646 Mttp microsomal triglyceride transfer protein gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:1318126 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1 PMID:16199547|PMID:16721486|PMID:21394827|PMID:25741868|PMID:27578136|PMID:28492532|PMID:30522860|PMID:33258201|PMID:8533758|PMID:9671739 8831646 Mttp microsomal triglyceride transfer protein gene DOID:2018 hyperinsulinism susceptibility ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-493G>T PMID:11849654|REF_RGD_ID:1625490 8831646 Mttp microsomal triglyceride transfer protein gene DOID:630 genetic disease ISO RGD:1318126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8831646 Mttp microsomal triglyceride transfer protein gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-493G>T PMID:15136504|REF_RGD_ID:1625487 8831646 Mttp microsomal triglyceride transfer protein gene DOID:9002123 Familial Hypobetalipoproteinemia, Apolipoprotein B ISO RGD:1318126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Apolipoprotein B deficiency PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16199547|PMID:16721486|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:32041611|PMID:33258201|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739 8831646 Mttp microsomal triglyceride transfer protein gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1318126 D RGD:9068941 20200609 RGD PMID:17215532|REF_RGD_ID:1625482 8831646 Mttp microsomal triglyceride transfer protein gene DOID:9006098 Abetalipoproteinemia Neuropathy ISO RGD:1318126 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16199547|PMID:16721486|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:32041611|PMID:33258201|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739 8831646 Mttp microsomal triglyceride transfer protein gene DOID:9006646 Metabolic Syndrome ISO RGD:1318126 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metabolic syndrome X PMID:16199547|PMID:16721486|PMID:21394827|PMID:25741868|PMID:27578136|PMID:28492532|PMID:30522860|PMID:33258201|PMID:8533758|PMID:9671739 8831646 Mttp microsomal triglyceride transfer protein gene DOID:9452 steatotic liver disease ISO RGD:1318126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303181 8831646 Mttp microsomal triglyceride transfer protein gene DOID:9452 steatotic liver disease ISO RGD:1318126 D RGD:9068941 20200609 RGD associated with Hepatitis C;mRNA:decreased expression:liver PMID:16697730|REF_RGD_ID:1625483 8831646 Mttp microsomal triglyceride transfer protein gene DOID:9970 obesity susceptibility ISO RGD:1318126 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:15635487|REF_RGD_ID:1625486 8831670 Tp73 tumor protein p73 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8831670 Tp73 tumor protein p73 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8831670 Tp73 tumor protein p73 gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1316062 D RGD:9068941 20220128 RGD protein:increased expression:colon (human) PMID:19956069|REF_RGD_ID:151347585 8831670 Tp73 tumor protein p73 gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17446929|REF_RGD_ID:2290583 8831670 Tp73 tumor protein p73 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8831670 Tp73 tumor protein p73 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8831670 Tp73 tumor protein p73 gene DOID:0111934 immunodeficiency 38 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8831670 Tp73 tumor protein p73 gene DOID:0111935 immunodeficiency 16 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8831670 Tp73 tumor protein p73 gene DOID:10283 prostate cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:alternative forms PMID:15492805|REF_RGD_ID:2298529 8831670 Tp73 tumor protein p73 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:16254107|REF_RGD_ID:2290587 8831670 Tp73 tumor protein p73 gene DOID:10534 stomach cancer exacerbates ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:decreased expression:stomach (human) PMID:16190407|REF_RGD_ID:151347595 8831670 Tp73 tumor protein p73 gene DOID:10754 otitis media ISO RGD:1316063 D RGD:9068941 20220825 MouseDO OMIM:166760 8831670 Tp73 tumor protein p73 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:10383132|REF_RGD_ID:2291836 8831670 Tp73 tumor protein p73 gene DOID:11132 prostatic hypertrophy ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:alternative forms PMID:15492805|REF_RGD_ID:2298529 8831670 Tp73 tumor protein p73 gene DOID:11162 respiratory failure ISO RGD:1316062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:34077761 8831670 Tp73 tumor protein p73 gene DOID:1324 lung cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:11139314|REF_RGD_ID:2291830 8831670 Tp73 tumor protein p73 gene DOID:1324 lung cancer susceptibility ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNPs:exon 2:4G>A, 14C>T (human) PMID:32063627|REF_RGD_ID:151347583 8831670 Tp73 tumor protein p73 gene DOID:1612 breast cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:11139314|REF_RGD_ID:2291830 8831670 Tp73 tumor protein p73 gene DOID:1612 breast cancer ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA, mRNA:loss of heterozygosity, decreased expression:breast PMID:11103943|REF_RGD_ID:2291831 8831670 Tp73 tumor protein p73 gene DOID:1612 breast cancer ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:deletion:intron:IVS1-489_-417del (human) PMID:14732927|REF_RGD_ID:151347588 8831670 Tp73 tumor protein p73 gene DOID:1612 breast cancer disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16950799|REF_RGD_ID:2290584 8831670 Tp73 tumor protein p73 gene DOID:1612 breast cancer no_association ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:mutations PMID:10634515|REF_RGD_ID:2291835 8831670 Tp73 tumor protein p73 gene DOID:2154 nephroblastoma ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:kidney PMID:10760569|REF_RGD_ID:2291834 8831670 Tp73 tumor protein p73 gene DOID:234 colon adenocarcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:colon (human) PMID:30420492|REF_RGD_ID:151347580 8831670 Tp73 tumor protein p73 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15492852|REF_RGD_ID:2290588 8831670 Tp73 tumor protein p73 gene DOID:2938 Epstein-Barr virus infectious disease ISO RGD:1316062 D RGD:9068941 20220128 RGD associated with stomach carcinoma;DNA:hypermethylation:promoter (human) PMID:23829175|REF_RGD_ID:151347586 8831670 Tp73 tumor protein p73 gene DOID:3007 breast ductal carcinoma ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:17011986|REF_RGD_ID:2290492 8831670 Tp73 tumor protein p73 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:lung (human) PMID:30420492|REF_RGD_ID:151347580 8831670 Tp73 tumor protein p73 gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:1316062 D RGD:9068941 20230216 RGD DNA:SNP:: rs2273953(human) PMID:27246533|REF_RGD_ID:151347584 8831670 Tp73 tumor protein p73 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNP:intron: (rs3765701) (human) PMID:21965272|REF_RGD_ID:151347589 8831670 Tp73 tumor protein p73 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245298 8831670 Tp73 tumor protein p73 gene DOID:4362 cervical cancer susceptibility ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) PMID:30420492|REF_RGD_ID:151347580 8831670 Tp73 tumor protein p73 gene DOID:4450 renal cell carcinoma ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:9796703|REF_RGD_ID:2291837 8831670 Tp73 tumor protein p73 gene DOID:5409 lung small cell carcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:mutations:multiple: (human) PMID:26168399|REF_RGD_ID:151347582 8831670 Tp73 tumor protein p73 gene DOID:630 genetic disease ISO RGD:1316062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831670 Tp73 tumor protein p73 gene DOID:657 adenoma ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:hypermethylation:promoter: (human) PMID:29945573|REF_RGD_ID:151347590 8831670 Tp73 tumor protein p73 gene DOID:684 hepatocellular carcinoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:liver (human) PMID:14760085|PMID:19664633|PMID:31429776|REF_RGD_ID:151347592|REF_RGD_ID:151347593|REF_RGD_ID:151347594 8831670 Tp73 tumor protein p73 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1316062 D RGD:9068941 20220128 RGD protein:decreased phosphorylation:liver (human) PMID:27359056|REF_RGD_ID:151347579 8831670 Tp73 tumor protein p73 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1316062 D RGD:9068941 20220128 RGD human cells in a mouse model PMID:25371988|REF_RGD_ID:151347596 8831670 Tp73 tumor protein p73 gene DOID:769 neuroblastoma no_association ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:9288759|REF_RGD_ID:1599583 8831670 Tp73 tumor protein p73 gene DOID:8923 skin melanoma ISO RGD:1316062 D RGD:9068941 20220128 RGD mRNA:increased expression:skin of body (human) PMID:30420492|REF_RGD_ID:151347580 8831670 Tp73 tumor protein p73 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:11870517|REF_RGD_ID:2290589 8831670 Tp73 tumor protein p73 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD PMID:11051237|REF_RGD_ID:2291833 8831670 Tp73 tumor protein p73 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:ovary PMID:10760569|REF_RGD_ID:2291834 8831670 Tp73 tumor protein p73 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:12928725|REF_RGD_ID:2298530 8831670 Tp73 tumor protein p73 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:uterine cervix PMID:11870517|REF_RGD_ID:2290589 8831670 Tp73 tumor protein p73 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:17504382|REF_RGD_ID:2290582 8831670 Tp73 tumor protein p73 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:1316062 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16818688|REF_RGD_ID:2290586 8831670 Tp73 tumor protein p73 gene DOID:9003814 Neurologic Manifestations ISO RGD:1316063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24190996 8831670 Tp73 tumor protein p73 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30057029 8831670 Tp73 tumor protein p73 gene DOID:9005172 Lung Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28212736 8831670 Tp73 tumor protein p73 gene DOID:9005352 CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY ISO RGD:1316062 D RGD:7240710 20210818 OMIM 8831670 Tp73 tumor protein p73 gene DOID:9005352 CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY ISO RGD:1316062 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly PMID:25741868|PMID:34077761 8831670 Tp73 tumor protein p73 gene DOID:9005372 Inflammation ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28212736 8831670 Tp73 tumor protein p73 gene DOID:9005804 Vulvar Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:vulva PMID:11720444|REF_RGD_ID:2290590 8831670 Tp73 tumor protein p73 gene DOID:9006534 Nervous System Malformations ISO RGD:1316063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24190996 8831670 Tp73 tumor protein p73 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16928264|REF_RGD_ID:2290585 8831670 Tp73 tumor protein p73 gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:1316062 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:15723718|REF_RGD_ID:2298528 8831670 Tp73 tumor protein p73 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1316062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8831670 Tp73 tumor protein p73 gene DOID:9008939 Breast Neoplasms ISO RGD:1316062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28212736 8831670 Tp73 tumor protein p73 gene DOID:9256 colorectal cancer ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:deletion:intron:IVS1-489_-417del (human) PMID:14732927|REF_RGD_ID:151347588 8831670 Tp73 tumor protein p73 gene DOID:9256 colorectal cancer ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:hypermethylation:promoter: (human) PMID:29945573|REF_RGD_ID:151347590 8831670 Tp73 tumor protein p73 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNP:intron:g.3636226T>C (rs747828) (human) PMID:31090204|REF_RGD_ID:151347587 8831670 Tp73 tumor protein p73 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1316062 D RGD:9068941 20220128 RGD DNA:SNPs:exon 2:4G>A, 14C>T (rs2273953, rs1801173) (human) PMID:21672615|PMID:30420492|REF_RGD_ID:151347580|REF_RGD_ID:151347581 8831700 Khnyn KH and NYN domain containing gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8831700 Khnyn KH and NYN domain containing gene DOID:630 genetic disease ISO RGD:1316201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831700 Khnyn KH and NYN domain containing gene DOID:9000265 Specific Granule Deficiency ISO RGD:1316201 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8831700 Khnyn KH and NYN domain containing gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316201 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8831714 Map3k7cl MAP3K7 C-terminal like gene DOID:630 genetic disease ISO RGD:1347445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:23472171|PMID:25741868|PMID:32979048 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:0110803 hereditary spastic paraplegia 51 ISO RGD:1343936 D RGD:7240710 20180130 OMIM 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:0110803 hereditary spastic paraplegia 51 ISO RGD:1343936 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 PMID:18414213|PMID:20972249|PMID:21937992|PMID:23472171|PMID:25741868|PMID:28492532|PMID:32979048 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:1059 intellectual disability ISO RGD:1343936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:26544806|PMID:28492532 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:2717 Bloom syndrome ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:574 peripheral nervous system disease ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:607 paraplegia ISO RGD:1343936 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17576681|PMID:18414213|PMID:21620353|PMID:21937992|PMID:23472171|PMID:25167861|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942|PMID:32979048|PMID:9536098 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:630 genetic disease ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:870 neuropathy ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9005717 Familial Persistent Stuttering 1 ISO RGD:1343936 D RGD:7240710 20190315 OMIM 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9005717 Familial Persistent Stuttering 1 ISO RGD:1343936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AP4E1-related condition | ClinVar Annotator: match by term: Stuttering, familial persistent, 1 PMID:18414213|PMID:25741868|PMID:26350204|PMID:26544806|PMID:28492532 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9008582 Developmental Disease ISO RGD:1343936 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8831740 Ap4e1 adaptor related protein complex 4 subunit epsilon 1 gene DOID:9256 colorectal cancer ISO RGD:1343936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8831776 Mylk4 myosin light chain kinase family member 4 gene DOID:2843 long QT syndrome ISO RGD:1604705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8831776 Mylk4 myosin light chain kinase family member 4 gene DOID:630 genetic disease ISO RGD:1604705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831810 Adam22 ADAM metallopeptidase domain 22 gene DOID:0080434 developmental and epileptic encephalopathy 61 ISO RGD:1352892 D RGD:7240710 20190315 OMIM 8831810 Adam22 ADAM metallopeptidase domain 22 gene DOID:0080434 developmental and epileptic encephalopathy 61 ISO RGD:1352892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 61 PMID:25741868|PMID:27066583|PMID:28492532|PMID:30237576 8831810 Adam22 ADAM metallopeptidase domain 22 gene DOID:1826 epilepsy ISO RGD:1352892 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8831810 Adam22 ADAM metallopeptidase domain 22 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8831810 Adam22 ADAM metallopeptidase domain 22 gene DOID:630 genetic disease ISO RGD:1352892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8831853 Ift74 intraflagellar transport 74 gene DOID:0050545 visceral heterotaxy ISO RGD:1623977 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8831853 Ift74 intraflagellar transport 74 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1342560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 8831853 Ift74 intraflagellar transport 74 gene DOID:0060041 autism spectrum disorder ISO RGD:1342560 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8831853 Ift74 intraflagellar transport 74 gene DOID:0081011 Bardet-Biedl syndrome 22 ISO RGD:1342560 D RGD:7240710 20190315 OMIM 8831853 Ift74 intraflagellar transport 74 gene DOID:0081011 Bardet-Biedl syndrome 22 ISO RGD:1342560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 PMID:17576681|PMID:25741868|PMID:27486776|PMID:28492532|PMID:32144365|PMID:33531668|PMID:33748949|PMID:9536098 8831853 Ift74 intraflagellar transport 74 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1342560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:17576681|PMID:28492532|PMID:29068549|PMID:9536098 8831853 Ift74 intraflagellar transport 74 gene DOID:0112352 spermatogenic failure 58 ISO RGD:1342560 D RGD:7240710 20211110 OMIM 8831853 Ift74 intraflagellar transport 74 gene DOID:0112352 spermatogenic failure 58 ISO RGD:1342560 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 58 PMID:25741868|PMID:28492532|PMID:33689014 8831853 Ift74 intraflagellar transport 74 gene DOID:10907 microcephaly ISO RGD:1342560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8831853 Ift74 intraflagellar transport 74 gene DOID:630 genetic disease ISO RGD:1342560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33531668|PMID:34539760 8831853 Ift74 intraflagellar transport 74 gene DOID:9000733 Joubert Syndrome 40 ISO RGD:1342560 D RGD:7240710 20211110 OMIM 8831853 Ift74 intraflagellar transport 74 gene DOID:9000733 Joubert Syndrome 40 ISO RGD:1342560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome 40 PMID:25741868|PMID:28492532|PMID:31690835|PMID:33531668|PMID:34539760 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:0070490 infantile parkinsonism-dystonia 2 ISO RGD:734009 D RGD:7240710 20190315 OMIM 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:0070490 infantile parkinsonism-dystonia 2 ISO RGD:734009 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile, 2 PMID:25741868|PMID:26497564|PMID:26539891|PMID:28492532|PMID:28716265|PMID:31618753|PMID:32581362|PMID:35002152|PMID:36318270 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:0080855 Parkinsonism ISO RGD:734009 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16269145 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:13548 secondary Parkinson disease ISO RGD:734009 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34774656 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:11300 D RGD:9068941 20200609 RGD PMID:11463816|REF_RGD_ID:5131163 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:3694 D RGD:9068941 20200609 RGD PMID:16269145|REF_RGD_ID:5129143 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:3694 D RGD:9068941 20200609 RGD mRNA:decreased expression:substantia nigra (rat) PMID:21291984|REF_RGD_ID:5131086 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:734009 D RGD:9068941 20200609 RGD protein:decreased expression:putamen, caudate nucleus, striatum (human) PMID:16421508|REF_RGD_ID:5131167 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease ISO RGD:734009 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16112329|PMID:34774656 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:14330 Parkinson's disease resistance ISO RGD:734009 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human) PMID:16339215|REF_RGD_ID:5131165 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:1440 Machado-Joseph disease ISO RGD:3694 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra (rat) PMID:18385100|REF_RGD_ID:5131159 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:1596 depressive disorder ISO RGD:11300 D RGD:9068941 20200609 RGD PMID:17898223|REF_RGD_ID:5131168 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:303 substance-related disorder ISO RGD:3694 D RGD:9068941 20200609 RGD protein:increased cysteine nitrosylation:striatum, vesicle (rat) PMID:17683483|REF_RGD_ID:5131179 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:3602 toxic encephalopathy ISO RGD:3694 D RGD:9068941 20200609 RGD protein:increased expression:thalamus (rat) PMID:19798748|REF_RGD_ID:5130970 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:630 genetic disease ISO RGD:734009 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:863 nervous system disease ISO RGD:734009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12890883 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:9002955 Nerve Degeneration ISO RGD:734009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18643795 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:3694 D RGD:9068941 20200609 RGD PMID:16710474|REF_RGD_ID:2317333 8831882 Slc18a2 solute carrier family 18 member A2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:734009 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas (human) PMID:19223416|REF_RGD_ID:5131199 8831905 Setd5 SET domain containing 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8831905 Setd5 SET domain containing 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:21681106 8831905 Setd5 SET domain containing 5 gene DOID:0070053 autosomal dominant intellectual developmental disorder 23 ISO RGD:1605381 D RGD:7240710 20180130 OMIM 8831905 Setd5 SET domain containing 5 gene DOID:0070053 autosomal dominant intellectual developmental disorder 23 ISO RGD:1605381 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 23 | ClinVar Annotator: match by term: SETD5-Related Disorder | ClinVar Annotator: match by term: SETD5-related condition PMID:18414213|PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:26482601|PMID:27375234|PMID:28191889|PMID:28492532|PMID:28549204|PMID:28881385|PMID:28905509|PMID:28990276|PMID:29484850|PMID:29758562|PMID:31337854|PMID:31474762|PMID:32371413|PMID:33004838|PMID:33921431|PMID:34169511|PMID:34906502 8831905 Setd5 SET domain containing 5 gene DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 8831905 Setd5 SET domain containing 5 gene DOID:0080918 polymicrogyria ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:32581362 8831905 Setd5 SET domain containing 5 gene DOID:10283 prostate cancer severity ISO RGD:1605381 D RGD:9068941 20230112 RGD PMID:30616239|REF_RGD_ID:155804256 8831905 Setd5 SET domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8831905 Setd5 SET domain containing 5 gene DOID:10907 microcephaly ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8831905 Setd5 SET domain containing 5 gene DOID:12849 autistic disorder ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:28492532 8831905 Setd5 SET domain containing 5 gene DOID:14780 KBG syndrome ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KBG syndrome 8831905 Setd5 SET domain containing 5 gene DOID:1612 breast cancer ISO RGD:1605381 D RGD:9068941 20230112 RGD PMID:35063407|REF_RGD_ID:155804257 8831905 Setd5 SET domain containing 5 gene DOID:2843 long QT syndrome ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8831905 Setd5 SET domain containing 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605381 D RGD:9068941 20230112 RGD PMID:31981592|REF_RGD_ID:155804254 8831905 Setd5 SET domain containing 5 gene DOID:630 genetic disease ISO RGD:1605381 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24680889|PMID:25741868|PMID:26482601|PMID:28492532|PMID:28549204|PMID:28881385|PMID:29758562|PMID:33921431|PMID:34169511 8831905 Setd5 SET domain containing 5 gene DOID:6406 double outlet right ventricle ISO RGD:1321331 D RGD:9068941 20230112 RGD PMID:34050709|REF_RGD_ID:155794379 8831905 Setd5 SET domain containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23020937|PMID:24680889|PMID:25138099|PMID:25741868|PMID:28492532|PMID:28990276 8831905 Setd5 SET domain containing 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8831905 Setd5 SET domain containing 5 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 8831905 Setd5 SET domain containing 5 gene DOID:9008582 Developmental Disease ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8831905 Setd5 SET domain containing 5 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1605381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8831957 Lama5 laminin subunit alpha 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8831957 Lama5 laminin subunit alpha 5 gene DOID:0060327 omphalocele ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868|PMID:32439764 8831957 Lama5 laminin subunit alpha 5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8831957 Lama5 laminin subunit alpha 5 gene DOID:0080918 polymicrogyria ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:28492532|PMID:29706646 8831957 Lama5 laminin subunit alpha 5 gene DOID:0111365 benign familial hematuria ISO RGD:1354079 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial hematuria PMID:25741868|PMID:28492532|PMID:29764427 8831957 Lama5 laminin subunit alpha 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8831957 Lama5 laminin subunit alpha 5 gene DOID:10283 prostate cancer ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8831957 Lama5 laminin subunit alpha 5 gene DOID:1184 nephrotic syndrome ISO RGD:1354079 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23999528|PMID:25741868|PMID:26553438|PMID:28492532|PMID:29534211|PMID:31321674 8831957 Lama5 laminin subunit alpha 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8831957 Lama5 laminin subunit alpha 5 gene DOID:2975 cystic kidney disease ISO RGD:1551147 D RGD:9068941 20220825 MouseDO 8831957 Lama5 laminin subunit alpha 5 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1354079 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes PMID:25741868|PMID:28492532|PMID:28544784|PMID:29377152 8831957 Lama5 laminin subunit alpha 5 gene DOID:4621 holoprosencephaly ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25741868|PMID:28492532|PMID:28735299|PMID:29534211|PMID:31680349 8831957 Lama5 laminin subunit alpha 5 gene DOID:630 genetic disease ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383|PMID:25741868|PMID:28492532 8831957 Lama5 laminin subunit alpha 5 gene DOID:9000363 Hematuria ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macroscopic hematuria PMID:25741868 8831957 Lama5 laminin subunit alpha 5 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:1354079 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: distinct bent bone dysplasia PMID:28492532|PMID:33242826 8831957 Lama5 laminin subunit alpha 5 gene DOID:9002189 High Myopia ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 8831957 Lama5 laminin subunit alpha 5 gene DOID:9005870 Nephrotic Syndrome Type 26 ISO RGD:1354079 D RGD:7240710 20221012 OMIM 8831957 Lama5 laminin subunit alpha 5 gene DOID:9005870 Nephrotic Syndrome Type 26 ISO RGD:1354079 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: LAMA5-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 26 PMID:25741868|PMID:28492532|PMID:29534211|PMID:29764427|PMID:32439764|PMID:35419533 8831957 Lama5 laminin subunit alpha 5 gene DOID:9006726 Bent Bone Dysplasia Syndrome 2 ISO RGD:1354079 D RGD:7240710 20221102 OMIM 8831957 Lama5 laminin subunit alpha 5 gene DOID:9006726 Bent Bone Dysplasia Syndrome 2 ISO RGD:1354079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bent bone dysplasia syndrome 2 PMID:28492532|PMID:33242826 8831957 Lama5 laminin subunit alpha 5 gene DOID:9007661 Dwarfism ISO RGD:1354079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 8831957 Lama5 laminin subunit alpha 5 gene DOID:9008582 Developmental Disease ISO RGD:1354079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8832040 Krt36 keratin 36 gene DOID:630 genetic disease ISO RGD:1314039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832052 Gal3st2 galactose-3-O-sulfotransferase 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1346582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8832052 Gal3st2 galactose-3-O-sulfotransferase 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1346582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8832052 Gal3st2 galactose-3-O-sulfotransferase 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1346582 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8832052 Gal3st2 galactose-3-O-sulfotransferase 2 gene DOID:1059 intellectual disability ISO RGD:1346582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8832052 Gal3st2 galactose-3-O-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1346582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832052 Gal3st2 galactose-3-O-sulfotransferase 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1346582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8832072 Scand1 SCAN domain containing 1 gene DOID:630 genetic disease ISO RGD:1318355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832082 Wnt2b Wnt family member 2B gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:733303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8832082 Wnt2b Wnt family member 2B gene DOID:1911 endodermal sinus tumor ISO RGD:733303 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor PMID:16822086|REF_RGD_ID:2298800 8832082 Wnt2b Wnt family member 2B gene DOID:3307 teratoma ISO RGD:733303 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor PMID:16822086|REF_RGD_ID:2298800 8832082 Wnt2b Wnt family member 2B gene DOID:630 genetic disease ISO RGD:733303 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8832082 Wnt2b Wnt family member 2B gene DOID:9000351 Diarrhea 9 ISO RGD:733303 D RGD:7240710 20190315 OMIM 8832082 Wnt2b Wnt family member 2B gene DOID:9000351 Diarrhea 9 ISO RGD:733303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea 9 PMID:29909964 8832082 Wnt2b Wnt family member 2B gene DOID:9001276 Failure to Thrive ISO RGD:733303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:29909964 8832082 Wnt2b Wnt family member 2B gene DOID:9007096 Stroke ISO RGD:733303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8832094 Pdcd5 programmed cell death 5 gene DOID:630 genetic disease ISO RGD:1321536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832104 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8832104 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8832104 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8832104 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8832104 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:12849 autistic disorder ISO RGD:1348660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8832104 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1348660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8832104 Bclaf3 BCLAF1 and THRAP3 family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8832133 Tfap2c transcription factor AP-2 gamma gene DOID:10907 microcephaly ISO RGD:1346626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8832133 Tfap2c transcription factor AP-2 gamma gene DOID:630 genetic disease ISO RGD:1346626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832133 Tfap2c transcription factor AP-2 gamma gene DOID:9000217 Stomach Neoplasms ISO RGD:1346626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8832144 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1605284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 8832144 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8832144 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:0111962 combined immunodeficiency ISO RGD:1605284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:28112205 8832144 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:0111984 immunodeficiency 58 ISO RGD:1605284 D RGD:7240710 20190315 OMIM 8832144 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:0111984 immunodeficiency 58 ISO RGD:1605284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARMIL2-related condition | ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency PMID:16199547|PMID:25741868|PMID:27647349|PMID:27896283|PMID:28112205|PMID:28492532|PMID:29479355 8832144 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:1605284 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25741868 8832144 Carmil2 capping protein regulator and myosin 1 linker 2 gene DOID:630 genetic disease ISO RGD:1605284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8832194 Gpkow G-patch domain and KOW motifs gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8832194 Gpkow G-patch domain and KOW motifs gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1343451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8832194 Gpkow G-patch domain and KOW motifs gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1343451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8832194 Gpkow G-patch domain and KOW motifs gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1343451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8832194 Gpkow G-patch domain and KOW motifs gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1343451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8832194 Gpkow G-patch domain and KOW motifs gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1343451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8832194 Gpkow G-patch domain and KOW motifs gene DOID:12849 autistic disorder ISO RGD:1343451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8832194 Gpkow G-patch domain and KOW motifs gene DOID:630 genetic disease ISO RGD:1343451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832214 Hibadh 3-hydroxyisobutyrate dehydrogenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8832214 Hibadh 3-hydroxyisobutyrate dehydrogenase gene DOID:630 genetic disease ISO RGD:732658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832226 Tinagl1 tubulointerstitial nephritis antigen like 1 gene DOID:630 genetic disease ISO RGD:1352792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832245 Cep57 centrosomal protein 57 gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1602500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:12116237|PMID:21552266|PMID:24259107|PMID:25741868|PMID:28492532|PMID:30010053 8832245 Cep57 centrosomal protein 57 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1602500 D RGD:7240710 20180130 OMIM 8832245 Cep57 centrosomal protein 57 gene DOID:0080142 mosaic variegated aneuploidy syndrome 2 ISO RGD:1602500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 PMID:12116237|PMID:16199547|PMID:17576681|PMID:21552266|PMID:24259107|PMID:25741868|PMID:28492532|PMID:30010053|PMID:9536098 8832245 Cep57 centrosomal protein 57 gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1602500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 8832245 Cep57 centrosomal protein 57 gene DOID:1059 intellectual disability ISO RGD:1602500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8832245 Cep57 centrosomal protein 57 gene DOID:12704 ataxia telangiectasia ISO RGD:1602500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8832245 Cep57 centrosomal protein 57 gene DOID:630 genetic disease ISO RGD:1602500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8832261 Phkb phosphorylase kinase regulatory subunit beta gene DOID:0111041 glycogen storage disease IXB ISO RGD:1343205 D RGD:7240710 20180130 OMIM 8832261 Phkb phosphorylase kinase regulatory subunit beta gene DOID:0111041 glycogen storage disease IXB ISO RGD:1343205 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE PMID:12825073|PMID:16199547|PMID:17576681|PMID:17689125|PMID:18950708|PMID:21646031|PMID:24082139|PMID:25070466|PMID:25266922|PMID:25640679|PMID:25741868|PMID:26526422|PMID:26913919|PMID:28146470|PMID:28492532|PMID:28870985|PMID:29970176|PMID:30919572|PMID:31214250|PMID:31508908|PMID:32505569|PMID:33782433|PMID:33858366|PMID:34093448|PMID:34136918|PMID:9215682|PMID:9326319|PMID:9402963|PMID:9536098 8832261 Phkb phosphorylase kinase regulatory subunit beta gene DOID:630 genetic disease ISO RGD:1343205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8832297 Ifi30 IFI30 lysosomal thiol reductase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1321848 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 8832297 Ifi30 IFI30 lysosomal thiol reductase gene DOID:3042 allergic contact dermatitis ISO RGD:1321848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 8832297 Ifi30 IFI30 lysosomal thiol reductase gene DOID:630 genetic disease ISO RGD:1321848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832297 Ifi30 IFI30 lysosomal thiol reductase gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1321848 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8832297 Ifi30 IFI30 lysosomal thiol reductase gene DOID:9119 acute myeloid leukemia ISO RGD:1321848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8832322 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8832322 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1319721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8832322 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1319721 D RGD:7240710 20180130 OMIM 8832322 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1319721 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:16199547|PMID:17287286|PMID:17301081|PMID:17576681|PMID:20301762|PMID:20843780|PMID:23759946|PMID:24033266|PMID:24659738|PMID:24986829|PMID:25741868|PMID:26467025|PMID:26475597|PMID:27651038|PMID:27913098|PMID:28492532|PMID:28749033|PMID:30315573|PMID:32404165|PMID:32718099|PMID:33231368|PMID:9536098 8832322 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:1059 intellectual disability ISO RGD:1319721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8832322 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:630 genetic disease ISO RGD:1319721 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:26475597|PMID:27651038|PMID:28492532|PMID:33231368 8832322 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:9008086 Developmental Disabilities ISO RGD:1319721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8832322 Sucla2 succinate-CoA ligase ADP-forming subunit beta gene DOID:9970 obesity ISO RGD:1319721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8832337 Kcnh4 potassium voltage-gated channel subfamily H member 4 gene DOID:630 genetic disease ISO RGD:733889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832384 Tmem215 transmembrane protein 215 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8832384 Tmem215 transmembrane protein 215 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1601903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8832384 Tmem215 transmembrane protein 215 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8832384 Tmem215 transmembrane protein 215 gene DOID:630 genetic disease ISO RGD:1601903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832384 Tmem215 transmembrane protein 215 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601903 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8832384 Tmem215 transmembrane protein 215 gene DOID:9870 galactosemia ISO RGD:1601903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8832391 Cfp complement factor properdin gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1351689 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8832391 Cfp complement factor properdin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8832391 Cfp complement factor properdin gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8832391 Cfp complement factor properdin gene DOID:0080176 meningococcal meningitis ISO RGD:1351689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10909851|PMID:8530058 8832391 Cfp complement factor properdin gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8832391 Cfp complement factor properdin gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8832391 Cfp complement factor properdin gene DOID:0111768 X-linked properdin deficiency ISO RGD:1351689 D RGD:7240710 20190315 OMIM 8832391 Cfp complement factor properdin gene DOID:0111768 X-linked properdin deficiency ISO RGD:1351689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CFP-related condition | ClinVar Annotator: match by term: Properdin deficiency, X-linked | ClinVar Annotator: match by term: Properdin deficiency, type II | ClinVar Annotator: match by term: Properdin deficiency, type III PMID:10909851|PMID:25741868|PMID:28492532|PMID:3380115|PMID:7151327|PMID:8530058|PMID:8871668 8832391 Cfp complement factor properdin gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 8832391 Cfp complement factor properdin gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351689 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8832391 Cfp complement factor properdin gene DOID:12134 factor VIII deficiency ISO RGD:1351689 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:6912882|REF_RGD_ID:11041156 8832391 Cfp complement factor properdin gene DOID:12849 autistic disorder ISO RGD:1351689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8832391 Cfp complement factor properdin gene DOID:630 genetic disease ISO RGD:1351689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8832391 Cfp complement factor properdin gene DOID:684 hepatocellular carcinoma ISO RGD:1351689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8832391 Cfp complement factor properdin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604656 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:0111934 immunodeficiency 38 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:0111935 immunodeficiency 16 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:1826 epilepsy ISO RGD:1604656 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:630 genetic disease ISO RGD:1604656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8832403 Cdk11b cyclin dependent kinase 11B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8832452 Il23r interleukin 23 receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784|PMID:23291587|PMID:26192919 8832452 Il23r interleukin 23 receptor gene DOID:0081120 Graves ophthalmopathy no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10889677,rs2201841(human) PMID:22663548|REF_RGD_ID:7421521 8832452 Il23r interleukin 23 receptor gene DOID:0081120 Graves ophthalmopathy susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2201841,rs10889677(human) PMID:18073300|REF_RGD_ID:8549554 8832452 Il23r interleukin 23 receptor gene DOID:0110883 inflammatory bowel disease 17 ISO RGD:1351657 D RGD:7240710 20180130 OMIM 8832452 Il23r interleukin 23 receptor gene DOID:0110883 inflammatory bowel disease 17 ISO RGD:1351657 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 17 | ClinVar Annotator: match by term: Inflammatory bowel disease 17, protection against PMID:12023369|PMID:17068223|PMID:17447842|PMID:17587057|PMID:17786191|PMID:17804789|PMID:18438406|PMID:19122664|PMID:20228799|PMID:25741868|PMID:28492532 8832452 Il23r interleukin 23 receptor gene DOID:0111279 psoriasis 7 ISO RGD:1351657 D RGD:7240710 20230505 OMIM 8832452 Il23r interleukin 23 receptor gene DOID:0111279 psoriasis 7 ISO RGD:1351657 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: IL23R-related condition PMID:25741868|PMID:28492532 8832452 Il23r interleukin 23 receptor gene DOID:1024 leprosy ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22019778 8832452 Il23r interleukin 23 receptor gene DOID:1059 intellectual disability ISO RGD:1351657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8832452 Il23r interleukin 23 receptor gene DOID:10608 celiac disease ISO RGD:1351657 D RGD:9068941 20200609 RGD PMID:19175939|REF_RGD_ID:8549604 8832452 Il23r interleukin 23 receptor gene DOID:10608 celiac disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R381Q(rs11209026)(human) PMID:18368064|REF_RGD_ID:8549631 8832452 Il23r interleukin 23 receptor gene DOID:11335 sarcoidosis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human) PMID:21846945|REF_RGD_ID:8549545 8832452 Il23r interleukin 23 receptor gene DOID:12361 Graves' disease no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2201841,rs10889677,rs7530511(human) PMID:19021011|REF_RGD_ID:8549564 8832452 Il23r interleukin 23 receptor gene DOID:12361 Graves' disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP: :rs7530511(human) PMID:18073300|REF_RGD_ID:8549554 8832452 Il23r interleukin 23 receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1351657 D RGD:9068941 20200609 RGD protein:increased expression:minor salivary gland: PMID:22262980|REF_RGD_ID:8549566 8832452 Il23r interleukin 23 receptor gene DOID:13141 uveitis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD associated with Sarcoidosis;DNA:SNPs:intron,exon:rs11465804,rs11209026(human) PMID:21846945|REF_RGD_ID:8549545 8832452 Il23r interleukin 23 receptor gene DOID:13241 Behcet's disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP: :rs1884444(human) PMID:22483685|REF_RGD_ID:8549550 8832452 Il23r interleukin 23 receptor gene DOID:13241 Behcet's disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype::rs17375018, rs11209032(human); PMID:20375120|REF_RGD_ID:8549565 8832452 Il23r interleukin 23 receptor gene DOID:2377 multiple sclerosis ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human) PMID:18368064|REF_RGD_ID:8549631 8832452 Il23r interleukin 23 receptor gene DOID:2377 multiple sclerosis no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2201841,rs10889677,s7517847(human) PMID:24547735|REF_RGD_ID:8549632 8832452 Il23r interleukin 23 receptor gene DOID:2841 asthma ISO RGD:1622129 D RGD:9068941 20200609 RGD PMID:19935773|REF_RGD_ID:5037240 8832452 Il23r interleukin 23 receptor gene DOID:418 systemic scleroderma ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs11209026, rs11465804 (human) PMID:19918037|REF_RGD_ID:5096624 8832452 Il23r interleukin 23 receptor gene DOID:418 systemic scleroderma no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs: :rs11209032,rs1495965(human) PMID:18713787|REF_RGD_ID:8549603 8832452 Il23r interleukin 23 receptor gene DOID:4483 rhinitis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs7517847(human) PMID:23696856|REF_RGD_ID:8549605 8832452 Il23r interleukin 23 receptor gene DOID:630 genetic disease ISO RGD:1351657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8832452 Il23r interleukin 23 receptor gene DOID:6432 pulmonary hypertension ISO RGD:1351657 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human) PMID:19918037|REF_RGD_ID:5096624 8832452 Il23r interleukin 23 receptor gene DOID:7147 ankylosing spondylitis ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952073|PMID:20062062 8832452 Il23r interleukin 23 receptor gene DOID:7147 ankylosing spondylitis ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:multiple: PMID:19522770|REF_RGD_ID:8549549 8832452 Il23r interleukin 23 receptor gene DOID:7147 ankylosing spondylitis no_association ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP: :rs11209026(human) PMID:19877036|REF_RGD_ID:8549630 8832452 Il23r interleukin 23 receptor gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP::rs1343151(human) PMID:18647855|REF_RGD_ID:8549596 8832452 Il23r interleukin 23 receptor gene DOID:848 arthritis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human) PMID:19035472|REF_RGD_ID:8549572 8832452 Il23r interleukin 23 receptor gene DOID:8577 ulcerative colitis ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406|PMID:19122664|PMID:20228799 8832452 Il23r interleukin 23 receptor gene DOID:8577 ulcerative colitis ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP,Haplotype: :rs1884444(human) PMID:23093364|REF_RGD_ID:8549574 8832452 Il23r interleukin 23 receptor gene DOID:8778 Crohn's disease ISO RGD:1351657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756|PMID:18438406 8832452 Il23r interleukin 23 receptor gene DOID:8778 Crohn's disease susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:17068223|REF_RGD_ID:8549568 8832452 Il23r interleukin 23 receptor gene DOID:8893 psoriasis ISO RGD:1351657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis, protection against PMID:12023369|PMID:17068223|PMID:17447842|PMID:17587057|PMID:17786191|PMID:17804789|PMID:18438406|PMID:19122664|PMID:20228799|PMID:28492532 8832452 Il23r interleukin 23 receptor gene DOID:8893 psoriasis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP: :rs11805303(human) PMID:20978829|REF_RGD_ID:8549602 8832452 Il23r interleukin 23 receptor gene DOID:8893 psoriasis susceptibility ISO RGD:1351657 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R381Q(human) PMID:17587057|REF_RGD_ID:8549569 8832452 Il23r interleukin 23 receptor gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:1351657 D RGD:9068941 20231207 RGD associated with Alcohol-Related Disorders;DNA:SNP:rs6693831 (human) PMID:28422712|REF_RGD_ID:401901196 8832452 Il23r interleukin 23 receptor gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:1586368 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node PMID:21193288|REF_RGD_ID:5108250 8832452 Il23r interleukin 23 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1351657 D RGD:9068941 20200609 RGD protein:increased expression:T cell: PMID:21110900|REF_RGD_ID:8549601 8832472 Xcl1 X-C motif chemokine ligand 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8832472 Xcl1 X-C motif chemokine ligand 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:733993 D RGD:9068941 20200619 RGD mRNA:increased expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 8832472 Xcl1 X-C motif chemokine ligand 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620452 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:9717977|REF_RGD_ID:8693304 8832472 Xcl1 X-C motif chemokine ligand 1 gene DOID:630 genetic disease ISO RGD:1350360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832472 Xcl1 X-C motif chemokine ligand 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8832499 Ier3 immediate early response 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8832499 Ier3 immediate early response 3 gene DOID:0080600 COVID-19 ISO RGD:1347080 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8832499 Ier3 immediate early response 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1347080 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:14534530|REF_RGD_ID:1331843 8832499 Ier3 immediate early response 3 gene DOID:10763 hypertension ISO RGD:1347080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20713914 8832499 Ier3 immediate early response 3 gene DOID:11372 megacolon ISO RGD:1347080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8832499 Ier3 immediate early response 3 gene DOID:2772 irritant dermatitis ISO RGD:1347080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 8832499 Ier3 immediate early response 3 gene DOID:37 skin disease ISO RGD:1347080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8832499 Ier3 immediate early response 3 gene DOID:630 genetic disease ISO RGD:1347080 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832499 Ier3 immediate early response 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1347080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8832511 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:0111937 immunodeficiency 22 ISO RGD:1344945 D RGD:7240710 20180130 OMIM 8832511 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:0111937 immunodeficiency 22 ISO RGD:1344945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency PMID:16199547|PMID:17576681|PMID:22985903|PMID:25741868|PMID:27087313|PMID:28492532|PMID:9536098 8832511 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:11204 allergic conjunctivitis ISO RGD:2994 D RGD:9068941 20200609 RGD protein:increased phosphorylation:T cell PMID:14507881|REF_RGD_ID:1600225 8832511 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:10861 D RGD:9068941 20200609 RGD PMID:17711737|REF_RGD_ID:2316557 8832511 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:2994 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:T cell PMID:16828835|REF_RGD_ID:1600221 8832511 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:627 severe combined immunodeficiency ISO RGD:1344945 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:27748010 8832511 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:1344945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8832511 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:8466 retinal degeneration ISO RGD:2994 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8832511 Lck LCK proto-oncogene, Src family tyrosine kinase gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:2994 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8832531 Top2a DNA topoisomerase II alpha gene DOID:0060074 ductal carcinoma in situ severity ISO RGD:1352729 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11070118|REF_RGD_ID:2315133 8832531 Top2a DNA topoisomerase II alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dna topoisomerase II, resistance to inhibition of, by amsacrine PMID:1651812 8832531 Top2a DNA topoisomerase II alpha gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8832531 Top2a DNA topoisomerase II alpha gene DOID:0080600 COVID-19 ISO RGD:1352729 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8832531 Top2a DNA topoisomerase II alpha gene DOID:10283 prostate cancer ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:18347174|REF_RGD_ID:2315130 8832531 Top2a DNA topoisomerase II alpha gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19913893|REF_RGD_ID:2315121 8832531 Top2a DNA topoisomerase II alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8832531 Top2a DNA topoisomerase II alpha gene DOID:11624 penile benign neoplasm severity ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:18489530|REF_RGD_ID:2315128 8832531 Top2a DNA topoisomerase II alpha gene DOID:1240 leukemia ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15833037 8832531 Top2a DNA topoisomerase II alpha gene DOID:2154 nephroblastoma ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:16556665|REF_RGD_ID:2315131 8832531 Top2a DNA topoisomerase II alpha gene DOID:2154 nephroblastoma ISO RGD:1352729 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12438255|REF_RGD_ID:2315132 8832531 Top2a DNA topoisomerase II alpha gene DOID:2843 long QT syndrome ISO RGD:1352729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8832531 Top2a DNA topoisomerase II alpha gene DOID:3070 high grade glioma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18402387 8832531 Top2a DNA topoisomerase II alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8832531 Top2a DNA topoisomerase II alpha gene DOID:3948 adrenocortical carcinoma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23533247 8832531 Top2a DNA topoisomerase II alpha gene DOID:630 genetic disease ISO RGD:1352729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832531 Top2a DNA topoisomerase II alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8832531 Top2a DNA topoisomerase II alpha gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19051821|REF_RGD_ID:2315126 8832531 Top2a DNA topoisomerase II alpha gene DOID:9000918 Disease Progression ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22204715|PMID:30132517 8832531 Top2a DNA topoisomerase II alpha gene DOID:9002265 Kidney Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19539329|REF_RGD_ID:2315122 8832531 Top2a DNA topoisomerase II alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17363613 8832531 Top2a DNA topoisomerase II alpha gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19270648|REF_RGD_ID:2315125 8832531 Top2a DNA topoisomerase II alpha gene DOID:9002801 Recurrence ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079691|PMID:22204715|PMID:30132517 8832531 Top2a DNA topoisomerase II alpha gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8832531 Top2a DNA topoisomerase II alpha gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19347305|REF_RGD_ID:2315124 8832531 Top2a DNA topoisomerase II alpha gene DOID:9004484 Sepsis ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27978524 8832531 Top2a DNA topoisomerase II alpha gene DOID:9006205 Animal Disease Models ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8832531 Top2a DNA topoisomerase II alpha gene DOID:9007188 Liver Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 8832531 Top2a DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1352729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11583189|PMID:12006526|PMID:16234514|PMID:22204715 8832531 Top2a DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD PMID:19996222|REF_RGD_ID:2315120 8832531 Top2a DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD DNA:amplification, deletion (human) PMID:18465341|REF_RGD_ID:2315129 8832531 Top2a DNA topoisomerase II alpha gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352729 D RGD:9068941 20200609 RGD DNA:deletion (human) PMID:18702822|REF_RGD_ID:2315127 8832570 Plpp3 phospholipid phosphatase 3 gene DOID:3393 coronary artery disease ISO RGD:1604845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 8832570 Plpp3 phospholipid phosphatase 3 gene DOID:630 genetic disease ISO RGD:1604845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832570 Plpp3 phospholipid phosphatase 3 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1604845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28982073 8832570 Plpp3 phospholipid phosphatase 3 gene DOID:9003936 Cardiomegaly ISO RGD:1604845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28982073 8832580 Sv2a synaptic vesicle glycoprotein 2A gene DOID:12377 spinal muscular atrophy ISO RGD:733212 D RGD:9068941 20211203 RGD protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) PMID:28173138|REF_RGD_ID:11535337 8832580 Sv2a synaptic vesicle glycoprotein 2A gene DOID:1540 parathyroid carcinoma ISO RGD:1604842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8832580 Sv2a synaptic vesicle glycoprotein 2A gene DOID:630 genetic disease ISO RGD:1604842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832580 Sv2a synaptic vesicle glycoprotein 2A gene DOID:9007090 Experimental Seizures ISO RGD:619715 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.L174Q(rat) PMID:27265781|REF_RGD_ID:12792961 8832580 Sv2a synaptic vesicle glycoprotein 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8832602 Il24 interleukin 24 gene DOID:0050589 inflammatory bowel disease ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8832602 Il24 interleukin 24 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8832602 Il24 interleukin 24 gene DOID:12849 autistic disorder ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8832602 Il24 interleukin 24 gene DOID:1540 parathyroid carcinoma ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8832602 Il24 interleukin 24 gene DOID:1793 pancreatic cancer ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15580305 8832602 Il24 interleukin 24 gene DOID:3388 periodontal disease ISO RGD:621484 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node, T cell PMID:20618701|REF_RGD_ID:5024938 8832602 Il24 interleukin 24 gene DOID:630 genetic disease ISO RGD:1605405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832602 Il24 interleukin 24 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14678967|PMID:21671747 8832602 Il24 interleukin 24 gene DOID:9003281 Spontaneous Abortions ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8832602 Il24 interleukin 24 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605405 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8832602 Il24 interleukin 24 gene DOID:9005172 Lung Neoplasms ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12830052|PMID:15713900 8832602 Il24 interleukin 24 gene DOID:9007417 Pseudomonas Infections ISO RGD:1605405 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:19399182|REF_RGD_ID:5147421 8832602 Il24 interleukin 24 gene DOID:9008939 Breast Neoplasms ISO RGD:1605405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16298037|PMID:21671747 8832602 Il24 interleukin 24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8832611 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:0080600 COVID-19 ISO RGD:1312303 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8832611 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:1520 colon carcinoma ISO RGD:1312303 D RGD:9068941 20200609 RGD PMID:11104810|REF_RGD_ID:2317311 8832611 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:5419 schizophrenia ISO RGD:1312303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8832611 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:630 genetic disease ISO RGD:1312303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832611 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:6785 desmoplastic small round cell tumor ISO RGD:1312303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmoplastic small round cell tumor PMID:26822237 8832611 Tnfrsf17 TNF receptor superfamily member 17 gene DOID:9538 multiple myeloma ISO RGD:1312303 D RGD:9068941 20200609 RGD PMID:15692072|REF_RGD_ID:2317306 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1316912 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316912 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316912 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316912 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1316912 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:1059 intellectual disability ISO RGD:1316912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:3652 Leigh disease ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:630 genetic disease ISO RGD:1316912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832618 Rabl6 RAB, member RAS oncogene family like 6 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8832642 Fcer2 Fc fragment of IgE receptor II gene DOID:0080490 mucolipidosis type IV ISO RGD:1354370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8832642 Fcer2 Fc fragment of IgE receptor II gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1354370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8832642 Fcer2 Fc fragment of IgE receptor II gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1354370 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8832642 Fcer2 Fc fragment of IgE receptor II gene DOID:14330 Parkinson's disease ISO RGD:1354370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 8832642 Fcer2 Fc fragment of IgE receptor II gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11500085 8832642 Fcer2 Fc fragment of IgE receptor II gene DOID:630 genetic disease ISO RGD:1354370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832642 Fcer2 Fc fragment of IgE receptor II gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1354370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22967010 8832642 Fcer2 Fc fragment of IgE receptor II gene DOID:9588 encephalitis ISO RGD:1354370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11500085 8832687 Mvb12a multivesicular body subunit 12A gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS 8832687 Mvb12a multivesicular body subunit 12A gene DOID:630 genetic disease ISO RGD:1604253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832697 Lhx8 LIM homeobox 8 gene DOID:630 genetic disease ISO RGD:1606630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:0080059 autosomal recessive spinocerebellar ataxia 7 ISO RGD:1603717 D RGD:7240710 20180130 OMIM 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:0080059 autosomal recessive spinocerebellar ataxia 7 ISO RGD:1603717 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 | ClinVar Annotator: match by term: TPP1-related condition PMID:10330339|PMID:10862088|PMID:11017954|PMID:11071145|PMID:11339651|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18473686|PMID:18684116|PMID:19201763|PMID:19793312|PMID:20301601|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22612257|PMID:22752289|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29631617|PMID:29687370|PMID:30771299|PMID:31122803|PMID:31283065|PMID:31489614|PMID:32329550|PMID:32412666|PMID:32855042|PMID:34126256|PMID:9295267|PMID:9536098|PMID:9788728 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:7240710 20180130 OMIM 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:34849271|PMID:9295267|PMID:9536098|PMID:9788728 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31069529|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33377563|PMID:33604240|PMID:34126256|PMID:34849271|PMID:35314707|PMID:9295267|PMID:9536098|PMID:9788728 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:0110726 neuronal ceroid lipofuscinosis 2 ISO RGD:1603717 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29687370|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31069529|PMID:31122803|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32412666|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33377563|PMID:33604240|PMID:34126256|PMID:34849271|PMID:35314707|PMID:37922835|PMID:9295267|PMID:9536098|PMID:9788728 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1603717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10320038 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11071145|PMID:11339651|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29056246|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31216804|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603717 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27146152|PMID:27407112|PMID:27553520|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:29631617|PMID:29655203|PMID:29687370|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31069529|PMID:31122803|PMID:31139143|PMID:31283065|PMID:31440721|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32146219|PMID:32329550|PMID:32412666|PMID:33348105|PMID:33377563|PMID:33604240|PMID:34849271|PMID:35314707|PMID:35796208|PMID:9295267|PMID:9536098|PMID:9788728 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:1826 epilepsy ISO RGD:1603717 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10330339|PMID:18414213|PMID:19038966|PMID:21990111|PMID:22752289|PMID:22832778|PMID:23266810|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25741868|PMID:26467025|PMID:27553520|PMID:27776828|PMID:28492532|PMID:28717666|PMID:31283065|PMID:31489614|PMID:34849271 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:1826 epilepsy ISO RGD:1603717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532|PMID:31283065 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:1932 Angelman syndrome ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:10330339|PMID:21990111|PMID:25741868|PMID:28492532|PMID:30792901 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:630 genetic disease ISO RGD:1603717 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330339|PMID:10356316|PMID:10665500|PMID:11017954|PMID:11071145|PMID:11339651|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19201763|PMID:19793312|PMID:20301601|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27604308|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28717666|PMID:29631617|PMID:29687370|PMID:30541466|PMID:31122803|PMID:31283065|PMID:31489614|PMID:32329550|PMID:32412666|PMID:34849271|PMID:9295267|PMID:9536098|PMID:9788728 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1603717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:25741868|PMID:26467025|PMID:28492532 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8832729 Tpp1 tripeptidyl peptidase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1603717 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10330339|PMID:11017954|PMID:11071145|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12796825|PMID:12950156|PMID:15317752|PMID:16782851|PMID:16814585|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18473686|PMID:18684116|PMID:19201763|PMID:19793312|PMID:20301601|PMID:21990111|PMID:22245569|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28464005|PMID:28492532|PMID:29631617|PMID:29687370|PMID:31122803|PMID:32412666|PMID:9295267|PMID:9788728 8832750 Mrpl4 mitochondrial ribosomal protein L4 gene DOID:630 genetic disease ISO RGD:1323408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832769 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:0081232 autosomal recessive intellectual developmental disorder 71 ISO RGD:1602194 D RGD:7240710 20190911 OMIM 8832769 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:0081232 autosomal recessive intellectual developmental disorder 71 ISO RGD:1602194 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 71 PMID:25741868|PMID:28492532|PMID:31079898|PMID:33544954 8832769 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:1059 intellectual disability ISO RGD:1602194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8832769 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:1602194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8832769 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:630 genetic disease ISO RGD:1602194 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8832769 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8832769 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1602194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 8832769 Alkbh8 alkB homolog 8, tRNA methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1602194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 8832785 Ccdc102b coiled-coil domain containing 102B gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1344849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8832785 Ccdc102b coiled-coil domain containing 102B gene DOID:11372 megacolon ISO RGD:1344849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8832785 Ccdc102b coiled-coil domain containing 102B gene DOID:630 genetic disease ISO RGD:1344849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832785 Ccdc102b coiled-coil domain containing 102B gene DOID:8445 intestinal volvulus ISO RGD:1344849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8832785 Ccdc102b coiled-coil domain containing 102B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8832785 Ccdc102b coiled-coil domain containing 102B gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8832805 Bms1 BMS1 ribosome biogenesis factor gene DOID:0080661 nonsyndromic aplasia cutis congenita ISO RGD:1345685 D RGD:7240710 20200422 OMIM 8832805 Bms1 BMS1 ribosome biogenesis factor gene DOID:2121 ectodermal dysplasia ISO RGD:1345685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia cutis congenita PMID:23785305|PMID:25741868 8832805 Bms1 BMS1 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1345685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832840 Vps37c VPS37C subunit of ESCRT-I gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1605989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8832840 Vps37c VPS37C subunit of ESCRT-I gene DOID:1059 intellectual disability ISO RGD:1605989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8832840 Vps37c VPS37C subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1605989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832867 Aig1 androgen induced 1 gene DOID:630 genetic disease ISO RGD:1346084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832890 Alg6 ALG6 alpha-1,3-glucosyltransferase gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1318803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:28492532 8832890 Alg6 ALG6 alpha-1,3-glucosyltransferase gene DOID:0080555 congenital disorder of glycosylation Ic ISO RGD:1318803 D RGD:7240710 20180130 OMIM 8832890 Alg6 ALG6 alpha-1,3-glucosyltransferase gene DOID:0080555 congenital disorder of glycosylation Ic ISO RGD:1318803 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V | ClinVar Annotator: match by term: CDG Ic | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ic PMID:10359825|PMID:10852543|PMID:10914684|PMID:10924277|PMID:11106564|PMID:11558905|PMID:12357336|PMID:12855228|PMID:14517965|PMID:15771971|PMID:16007612|PMID:16199547|PMID:16321363|PMID:17576681|PMID:18414213|PMID:19862844|PMID:20398363|PMID:20447155|PMID:21315133|PMID:21334936|PMID:21899441|PMID:23044053|PMID:23430515|PMID:25640679|PMID:25741868|PMID:26117549|PMID:26453362|PMID:27287710|PMID:27959697|PMID:28139241|PMID:28492532|PMID:31117816|PMID:32398770|PMID:35279850|PMID:36756224|PMID:9536098 8832890 Alg6 ALG6 alpha-1,3-glucosyltransferase gene DOID:1059 intellectual disability ISO RGD:1318803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8832890 Alg6 ALG6 alpha-1,3-glucosyltransferase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1318803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 8832890 Alg6 ALG6 alpha-1,3-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1318803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8832890 Alg6 ALG6 alpha-1,3-glucosyltransferase gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1318803 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 8832916 Fjx1 four-jointed box kinase 1 gene DOID:1059 intellectual disability ISO RGD:1314537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8832916 Fjx1 four-jointed box kinase 1 gene DOID:630 genetic disease ISO RGD:1314537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832916 Fjx1 four-jointed box kinase 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1314537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 8832920 CUNH5orf46 chromosome unknown C5orf46 homolog gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8832920 CUNH5orf46 chromosome unknown C5orf46 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8832920 CUNH5orf46 chromosome unknown C5orf46 homolog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8832931 Scaf11 SR-related CTD associated factor 11 gene DOID:630 genetic disease ISO RGD:1354010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832954 Tex19 testis expressed 19 gene DOID:630 genetic disease ISO RGD:1603143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832960 Eed embryonic ectoderm development gene DOID:0060041 autism spectrum disorder ISO RGD:1320306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8832960 Eed embryonic ectoderm development gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1320306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 8832960 Eed embryonic ectoderm development gene DOID:1059 intellectual disability ISO RGD:1320306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8832960 Eed embryonic ectoderm development gene DOID:224 transient cerebral ischemia ISO RGD:1309782 D RGD:9068941 20200609 RGD PMID:24007266|REF_RGD_ID:9588303 8832960 Eed embryonic ectoderm development gene DOID:3192 neurilemmoma ISO RGD:1320306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 8832960 Eed embryonic ectoderm development gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8832960 Eed embryonic ectoderm development gene DOID:630 genetic disease ISO RGD:1320306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8832960 Eed embryonic ectoderm development gene DOID:9001209 Cohen-Gibson Syndrome ISO RGD:1320306 D RGD:7240710 20190315 OMIM 8832960 Eed embryonic ectoderm development gene DOID:9001209 Cohen-Gibson Syndrome ISO RGD:1320306 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cohen-Gibson syndrome PMID:17576681|PMID:25741868|PMID:27193220|PMID:27868325|PMID:28119537|PMID:28229514|PMID:28475857|PMID:28492532|PMID:30858506|PMID:9536098 8832960 Eed embryonic ectoderm development gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:1320306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25240281 8832960 Eed embryonic ectoderm development gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1320307 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 8832984 Gpbp1 GC-rich promoter binding protein 1 gene DOID:630 genetic disease ISO RGD:1607008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8832984 Gpbp1 GC-rich promoter binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8833008 Slc38a1 solute carrier family 38 member 1 gene DOID:11832 visual epilepsy ISO RGD:69645 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:21138736|REF_RGD_ID:9999229 8833008 Slc38a1 solute carrier family 38 member 1 gene DOID:630 genetic disease ISO RGD:735316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833008 Slc38a1 solute carrier family 38 member 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:735316 D RGD:9068941 20220224 RGD PMID:26389641|REF_RGD_ID:151361140 8833008 Slc38a1 solute carrier family 38 member 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735316 D RGD:9068941 20220224 RGD PMID:26389641|REF_RGD_ID:151361140 8833058 Zmynd11 zinc finger MYND-type containing 11 gene DOID:0070060 autosomal dominant intellectual developmental disorder 30 ISO RGD:1606319 D RGD:7240710 20180130 OMIM 8833058 Zmynd11 zinc finger MYND-type containing 11 gene DOID:0070060 autosomal dominant intellectual developmental disorder 30 ISO RGD:1606319 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30 PMID:25217958|PMID:25281490|PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28708303|PMID:28933030|PMID:32097528|PMID:34216016|PMID:35172867 8833058 Zmynd11 zinc finger MYND-type containing 11 gene DOID:10534 stomach cancer ISO RGD:1606319 D RGD:9068941 20220819 RGD mRNA:decreased expression:stomach (human) PMID:34969361|REF_RGD_ID:153344525 8833058 Zmynd11 zinc finger MYND-type containing 11 gene DOID:1059 intellectual disability ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25217958 8833058 Zmynd11 zinc finger MYND-type containing 11 gene DOID:12849 autistic disorder ISO RGD:1606319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217958 8833058 Zmynd11 zinc finger MYND-type containing 11 gene DOID:5419 schizophrenia ISO RGD:1606319 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8833058 Zmynd11 zinc finger MYND-type containing 11 gene DOID:630 genetic disease ISO RGD:1606319 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25281490|PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28933030|PMID:35172867 8833058 Zmynd11 zinc finger MYND-type containing 11 gene DOID:9002091 Paragangliomas 5 ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 5 8833058 Zmynd11 zinc finger MYND-type containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606319 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25281490|PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28933030|PMID:35172867 8833058 Zmynd11 zinc finger MYND-type containing 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1606319 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25281490|PMID:25741868|PMID:25741899|PMID:27334371|PMID:28191890|PMID:28492532|PMID:28933030|PMID:35172867 8833058 Zmynd11 zinc finger MYND-type containing 11 gene DOID:9008879 Self Mutilation ISO RGD:1606319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Self-mutilation PMID:25741868 8833098 Phf20l1 PHD finger protein 20 like 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1606010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 8833098 Phf20l1 PHD finger protein 20 like 1 gene DOID:14264 benign neonatal seizures ISO RGD:1606010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 8833098 Phf20l1 PHD finger protein 20 like 1 gene DOID:630 genetic disease ISO RGD:1606010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833144 Nat9 N-acetyltransferase 9 (putative) gene DOID:630 genetic disease ISO RGD:1606805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833157 Ehd2 EH domain containing 2 gene DOID:630 genetic disease ISO RGD:1348695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833168 Chst12 carbohydrate sulfotransferase 12 gene DOID:0060041 autism spectrum disorder ISO RGD:1317861 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8833168 Chst12 carbohydrate sulfotransferase 12 gene DOID:10763 hypertension ISO RGD:1308214 D RGD:9068941 20210122 RGD mRNA:decreased expression:renal cortex and medulla (rat) PMID:25001272|REF_RGD_ID:8693701 8833168 Chst12 carbohydrate sulfotransferase 12 gene DOID:630 genetic disease ISO RGD:1317861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:0060870 isolated growth hormone deficiency ISO RGD:68640 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:11248743|REF_RGD_ID:12910859 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:0080325 tuberous sclerosis 2 ISO RGD:68640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:68640 D RGD:9068941 20200609 RGD PMID:19207313|REF_RGD_ID:12910858 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:68640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:1184 nephrotic syndrome ISO RGD:68640 D RGD:9068941 20200609 RGD PMID:11248742|REF_RGD_ID:12910863 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:1826 epilepsy ISO RGD:68640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:3490 Noonan syndrome ISO RGD:68640 D RGD:9068941 20200609 RGD PMID:16263833|REF_RGD_ID:11063837 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:630 genetic disease ISO RGD:68640 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:684 hepatocellular carcinoma ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:8689 anorexia nervosa ISO RGD:68640 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:11248743|REF_RGD_ID:12910859 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:9000528 Coronary Disease ISO RGD:68640 D RGD:9068941 20200609 RGD PMID:15521962|REF_RGD_ID:1626121 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:9001239 Delayed Puberty ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14762184|PMID:17726072 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:68640 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21636299|REF_RGD_ID:12910854 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:9005930 Endotoxemia ISO RGD:68429 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:9006257 Growth Disorders ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14762184|PMID:17726072 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:68640 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.L127P (c.380T>C) (human) PMID:23488611|REF_RGD_ID:12910853 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:9007692 Insulin Resistance ISO RGD:68640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17726072 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:9007730 Burns ISO RGD:68429 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:10827012|REF_RGD_ID:12910869 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:9008272 Acid-Labile Subunit Deficiency ISO RGD:68640 D RGD:7240710 20180130 OMIM 8833190 Igfals insulin like growth factor binding protein acid labile subunit gene DOID:9008272 Acid-Labile Subunit Deficiency ISO RGD:68640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature due to primary acid-labile subunit deficiency PMID:14762184|PMID:17726072|PMID:18303074|PMID:20591980|PMID:22678306|PMID:22991227|PMID:23488611|PMID:24335034|PMID:25741868|PMID:26418010|PMID:27018247|PMID:28492532 8833200 Inpp5k inositol polyphosphate-5-phosphatase K gene DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability ISO RGD:1604357 D RGD:7240710 20190315 OMIM 8833200 Inpp5k inositol polyphosphate-5-phosphatase K gene DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability ISO RGD:1604357 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability PMID:25741868|PMID:28190456|PMID:28190459|PMID:28492532|PMID:33792664 8833200 Inpp5k inositol polyphosphate-5-phosphatase K gene DOID:630 genetic disease ISO RGD:1604357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26940976|PMID:28190459 8833221 Ttpal alpha tocopherol transfer protein like gene DOID:2234 focal epilepsy ISO RGD:1313976 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8833221 Ttpal alpha tocopherol transfer protein like gene DOID:630 genetic disease ISO RGD:1313976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833221 Ttpal alpha tocopherol transfer protein like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8833242 Dsp desmoplakin gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 8833242 Dsp desmoplakin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy PMID:10395892|PMID:10594734|PMID:11063735|PMID:12101406|PMID:12802069|PMID:15941723|PMID:16199547|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19358943|PMID:19558499|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20738328|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22240500|PMID:22555271|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23514727|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25157032|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25525159|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25691752|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26332594|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27435932|PMID:27532257|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29062697|PMID:29253866|PMID:29633331|PMID:29892087|PMID:29915098|PMID:30354334|PMID:30398466|PMID:30775854|PMID:30847666|PMID:31110529|PMID:31194698|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31589614|PMID:31727422|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32826072|PMID:33079602|PMID:33087929|PMID:33313835|PMID:33652588|PMID:33684294|PMID:34026522|PMID:34290054|PMID:34352074|PMID:34368507|PMID:35083019|PMID:35151254|PMID:35474678|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36768812|PMID:491020|PMID:9536098 8833242 Dsp desmoplakin gene DOID:0050451 Brugada syndrome ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8833242 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31319917|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:33232181|PMID:34213952|PMID:9536098 8833242 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34213952|PMID:9536098 8833242 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30206291|PMID:30354334|PMID:30382575|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34213952|PMID:9536098 8833242 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22555271|PMID:22949226|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26656175|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27153395|PMID:27329731|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28611029|PMID:28759816|PMID:28798025|PMID:28912206|PMID:29178656|PMID:29253866|PMID:29420653|PMID:29511324|PMID:29607617|PMID:29750433|PMID:29759408|PMID:29802319|PMID:30012837|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32746448|PMID:32880476|PMID:32942234|PMID:33232181|PMID:34137518|PMID:34213952|PMID:34290054|PMID:9536098 8833242 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22949226|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:35083019|PMID:35087879|PMID:9536098 8833242 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21270786|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25856671|PMID:25974703|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:33082984|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:35083019|PMID:35087879|PMID:9536098 8833242 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29878302|PMID:29915098|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34486814|PMID:35083019|PMID:35087879|PMID:35581137|PMID:9536098 8833242 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29915098|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34486814|PMID:35008956|PMID:35083019|PMID:35087879|PMID:35581137|PMID:35653365|PMID:35766183|PMID:36431211|PMID:36672924|PMID:37477868|PMID:9536098 8833242 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29915098|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34486814|PMID:34815391|PMID:35008956|PMID:35083019|PMID:35087879|PMID:35581137|PMID:35653365|PMID:35766183|PMID:36431211|PMID:36672924|PMID:37477868|PMID:9536098 8833242 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10395892|PMID:11063735|PMID:11841538|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29915098|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32592540|PMID:32600061|PMID:32879264|PMID:32880476|PMID:32942234|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34486814|PMID:34815391|PMID:35008956|PMID:35083019|PMID:35087879|PMID:35581137|PMID:35653365|PMID:35766183|PMID:36431211|PMID:36672924|PMID:37477868|PMID:9536098 8833242 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10395892|PMID:10594734|PMID:11063735|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22555271|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24598986|PMID:246676|PMID:24704780|PMID:24825141|PMID:24967631|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:26073755|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26743238|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27329731|PMID:27332903|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29555771|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29892087|PMID:29915098|PMID:29956481|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30122538|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32114801|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32372669|PMID:32410525|PMID:32516855|PMID:32592540|PMID:32600061|PMID:32659924|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35083019 8833242 Dsp desmoplakin gene DOID:0050700 cardiomyopathy ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:35087879|PMID:35151254|PMID:35444050|PMID:35474678|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37461109|PMID:37477868|PMID:37589201|PMID:37904629|PMID:491020|PMID:9536098 8833242 Dsp desmoplakin gene DOID:0060319 cardiac arrest ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20716751|PMID:21606390|PMID:22240500|PMID:24503780|PMID:25227139|PMID:25525159|PMID:25741868|PMID:28492532|PMID:33313835 8833242 Dsp desmoplakin gene DOID:0060480 left ventricular noncompaction ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868|PMID:28492532 8833242 Dsp desmoplakin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:28492532|PMID:33552729 8833242 Dsp desmoplakin gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532|PMID:33552729 8833242 Dsp desmoplakin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444|PMID:31983221 8833242 Dsp desmoplakin gene DOID:0081109 keratosis palmoplantaris striata 2 ISO RGD:1314043 D RGD:7240710 20180130 OMIM 8833242 Dsp desmoplakin gene DOID:0081109 keratosis palmoplantaris striata 2 ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:10594734|PMID:12101406|PMID:12802069|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19863551|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20716751|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22454510|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23651034|PMID:23671136|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25691752|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25825460|PMID:25979592|PMID:26099957|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26399581|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29607617|PMID:29633331|PMID:29802319|PMID:29915098|PMID:30165862|PMID:30276209|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30975432|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33722762|PMID:33996946|PMID:34026522|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34389451|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35087879|PMID:35581137|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36868229|PMID:37589201|PMID:37904629|PMID:9536098|PMID:9887343 8833242 Dsp desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:7240710 20180130 OMIM 8833242 Dsp desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair PMID:10594734|PMID:11063735|PMID:11278896|PMID:11841538|PMID:12101406|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19763152|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20307669|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20613772|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20940358|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22406018|PMID:22454510|PMID:22555271|PMID:22795705|PMID:22949226|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24784157|PMID:24825141|PMID:24938629|PMID:24967631|PMID:24981977|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26303123|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26718681|PMID:26735901|PMID:26743238|PMID:26833927|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27353043|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27831900|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28152038|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28750076|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29181379|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29517769|PMID:29555771|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:29997227|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30133754|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30291343|PMID:30345701|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30453078|PMID:30615648|PMID:30670673|PMID:30685992|PMID:30699244|PMID:30700137|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31064352|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31251381|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31727422|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32005173|PMID:32013205|PMID:32114801|PMID:32233023|PMID:32268277|PMID:32277046 8833242 Dsp desmoplakin gene DOID:0090128 Carvajal syndrome ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair PMID:32356610|PMID:32372669|PMID:32410525|PMID:32516855|PMID:32546831|PMID:32592540|PMID:32593191|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32808748|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34766015|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35036946|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35348702|PMID:35444050|PMID:35470680|PMID:35474678|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36136372|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37461109|PMID:37477868|PMID:37589201|PMID:37904629|PMID:491020|PMID:8769422|PMID:9229116|PMID:9536098|PMID:9887343 8833242 Dsp desmoplakin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:21723241|PMID:24070718|PMID:25741868|PMID:26138720|PMID:28492532 8833242 Dsp desmoplakin gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1314043 D RGD:7240710 20180130 OMIM 8833242 Dsp desmoplakin gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:10395892|PMID:10594734|PMID:11063735|PMID:11278896|PMID:11841538|PMID:12101406|PMID:12373648|PMID:12802069|PMID:12875771|PMID:15210133|PMID:15941723|PMID:16061754|PMID:16175511|PMID:16199547|PMID:16467215|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19095136|PMID:19279339|PMID:19558499|PMID:19597050|PMID:19763152|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20307669|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20613772|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20940358|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22240500|PMID:22406018|PMID:22454510|PMID:22555271|PMID:22795705|PMID:22949226|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24341478|PMID:24440382|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24598986|PMID:24704780|PMID:24784157|PMID:24825141|PMID:24938629|PMID:24967631|PMID:24981977|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25332820|PMID:25344691|PMID:25351510|PMID:25403600|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25741904|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25825460|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26084686|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26265630|PMID:26272908|PMID:26303123|PMID:26314686|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26406308|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26688388|PMID:26718681|PMID:26735901|PMID:26743238|PMID:26833927|PMID:26850880|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27353043|PMID:27374306|PMID:27435932|PMID:27532257|PMID:27698334|PMID:27707468|PMID:27831900|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28087566|PMID:28152038|PMID:28166811|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28442525|PMID:28471438|PMID:28472724|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28600387|PMID:28611029|PMID:28750076|PMID:28759816|PMID:28767663|PMID:28784889|PMID:28790152|PMID:28798025|PMID:28912206|PMID:29016939|PMID:29032884|PMID:29062697|PMID:29095814|PMID:29178656|PMID:29181379|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29334134|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29517769|PMID:29555771|PMID:29590070|PMID:29606362|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29773157|PMID:29802319|PMID:29878302|PMID:29884292|PMID:29892087|PMID:29915097|PMID:29915098|PMID:29956481|PMID:29997227|PMID:30011071|PMID:30012837|PMID:30086531|PMID:30133754|PMID:30165862|PMID:30206291|PMID:30276209|PMID:30286183|PMID:30291343|PMID:30345701|PMID:30354300|PMID:30354334|PMID:30382575|PMID:30398466|PMID:30453078|PMID:30615648|PMID:30670673|PMID:30685992|PMID:30699244|PMID:30700137|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30944905|PMID:30975432|PMID:30993396|PMID:31028357|PMID:31064352|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31194698|PMID:31195250|PMID:31251381|PMID:31264976|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31589614|PMID:31638414|PMID:31638835|PMID:31727422|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32005173 8833242 Dsp desmoplakin gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:32013205|PMID:32114801|PMID:32233023|PMID:32268277|PMID:32277046|PMID:32356610|PMID:32372669|PMID:32410525|PMID:32516855|PMID:32546831|PMID:32592540|PMID:32593191|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32808748|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33079602|PMID:33082984|PMID:33087929|PMID:33232181|PMID:33313835|PMID:33460606|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33652588|PMID:33684294|PMID:33722762|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34137518|PMID:34213952|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34368507|PMID:34389451|PMID:34486814|PMID:34766015|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35036946|PMID:35083019|PMID:35087879|PMID:35151254|PMID:35348702|PMID:35444050|PMID:35470680|PMID:35474678|PMID:35581137|PMID:35653365|PMID:35766183|PMID:35819174|PMID:36136372|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36836569|PMID:36868229|PMID:37461109|PMID:37477868|PMID:37589201|PMID:37904629|PMID:491020|PMID:8769422|PMID:9229116|PMID:9536098|PMID:9887343 8833242 Dsp desmoplakin gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:25820315|PMID:28492532|PMID:30345701|PMID:30700137 8833242 Dsp desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:31264976 8833242 Dsp desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:31264976|PMID:31402444 8833242 Dsp desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444 8833242 Dsp desmoplakin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314043 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18632414|PMID:19924139|PMID:20738328|PMID:23381804|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25225338|PMID:25351510|PMID:25693453|PMID:25741868|PMID:26585738|PMID:28492532|PMID:30354334|PMID:30847666|PMID:31264976|PMID:31402444|PMID:31983221 8833242 Dsp desmoplakin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1314043 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:20716751|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25741868|PMID:26084686|PMID:26265630|PMID:28166811|PMID:28492532|PMID:29178656|PMID:29633331|PMID:30615648|PMID:30775854|PMID:33996946 8833242 Dsp desmoplakin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1314043 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:20716751|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25741868|PMID:26084686|PMID:26265630|PMID:28166811|PMID:28492532|PMID:29178656|PMID:29633331|PMID:30615648|PMID:30775854|PMID:33996946 8833242 Dsp desmoplakin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15941723|PMID:20152563|PMID:20716751|PMID:21606396|PMID:21636032|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:25227139|PMID:25637381|PMID:25661095|PMID:25741868|PMID:26138720|PMID:26265630|PMID:27532257|PMID:28492532|PMID:30775854|PMID:32808748 8833242 Dsp desmoplakin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1314043 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868|PMID:28492532|PMID:29253866|PMID:32826072 8833242 Dsp desmoplakin gene DOID:0110644 long QT syndrome 1 ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:19095136|PMID:19279339|PMID:20716751|PMID:21606390|PMID:21606396|PMID:21723241|PMID:24070718|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25741868|PMID:25820315|PMID:28492532|PMID:28527814|PMID:30382575 8833242 Dsp desmoplakin gene DOID:0111073 progressive familial heart block ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive familial heart block PMID:25741868 8833242 Dsp desmoplakin gene DOID:10969 hemiplegia ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532 8833242 Dsp desmoplakin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18632414|PMID:19863551|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25741868|PMID:28492532|PMID:29255176|PMID:35470680 8833242 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16061754|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31568572|PMID:9536098 8833242 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16061754|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:9536098 8833242 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30820396|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31983221|PMID:32942234|PMID:9536098 8833242 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26230511|PMID:26399581|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28759816|PMID:30012837|PMID:30398466|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31333075|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32942234|PMID:34137518|PMID:34290054|PMID:9536098 8833242 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:33762593|PMID:34137518|PMID:34290054|PMID:34317553|PMID:9536098 8833242 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32942234|PMID:33087929|PMID:33762593|PMID:34137518|PMID:34290054|PMID:34317553|PMID:35581137|PMID:9536098 8833242 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29178656|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32942234|PMID:33087929|PMID:33762593|PMID:33996946|PMID:34137518|PMID:34290054|PMID:34317553|PMID:34815391|PMID:35581137|PMID:9536098 8833242 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29178656|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31317183|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32942234|PMID:33079602|PMID:33087929|PMID:33762593|PMID:33996946|PMID:34137518|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35581137|PMID:9536098 8833242 Dsp desmoplakin gene DOID:12930 dilated cardiomyopathy ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10594734|PMID:11063735|PMID:16199547|PMID:16467215|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19095136|PMID:19279339|PMID:19558499|PMID:20435227|PMID:20716751|PMID:20829228|PMID:20864495|PMID:21264154|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23810894|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25163546|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25516398|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25741868|PMID:25936878|PMID:26073755|PMID:26084686|PMID:26230511|PMID:26265630|PMID:26399581|PMID:26606670|PMID:26656175|PMID:26743238|PMID:26850880|PMID:27054166|PMID:27097650|PMID:27153395|PMID:27353043|PMID:27532257|PMID:28074886|PMID:28166811|PMID:28288337|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28588093|PMID:28611029|PMID:28759816|PMID:28790152|PMID:29178656|PMID:29633331|PMID:29915098|PMID:30012837|PMID:30398466|PMID:30615648|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30993396|PMID:31110529|PMID:31317183|PMID:31319917|PMID:31333075|PMID:31378211|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31568572|PMID:31737537|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32659924|PMID:32826072|PMID:32880476|PMID:32942234|PMID:33079602|PMID:33087929|PMID:33762593|PMID:33996946|PMID:34026522|PMID:34137518|PMID:34290054|PMID:34317553|PMID:34352074|PMID:34815391|PMID:35083019|PMID:35151254|PMID:35581137|PMID:36768812|PMID:9536098 8833242 Dsp desmoplakin gene DOID:1909 melanoma ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8833242 Dsp desmoplakin gene DOID:2843 long QT syndrome ISO RGD:1314043 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:19863551|PMID:20716751|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27097650|PMID:28074886|PMID:28416588|PMID:28492532|PMID:28759816|PMID:30993396|PMID:9536098 8833242 Dsp desmoplakin gene DOID:2843 long QT syndrome ISO RGD:1314043 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19863551|PMID:19924139|PMID:20525856|PMID:20716751|PMID:20738328|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26585738|PMID:26656175|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28759816|PMID:29511324|PMID:30354334|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:34033898|PMID:34290054|PMID:9536098 8833242 Dsp desmoplakin gene DOID:2843 long QT syndrome ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16467215|PMID:16774985|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19863551|PMID:19924139|PMID:20525856|PMID:20716751|PMID:20738328|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21723241|PMID:21859740|PMID:23292937|PMID:23299917|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:25225338|PMID:25227139|PMID:25693453|PMID:25741868|PMID:26230511|PMID:26585738|PMID:26656175|PMID:27097650|PMID:27153395|PMID:27532257|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28759816|PMID:29511324|PMID:30354334|PMID:30398466|PMID:30847666|PMID:30993396|PMID:31402444|PMID:31514951|PMID:31737537|PMID:32277046|PMID:32372669|PMID:32826072|PMID:34026522|PMID:34033898|PMID:34290054|PMID:35083019|PMID:9536098 8833242 Dsp desmoplakin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 8833242 Dsp desmoplakin gene DOID:3770 pulmonary fibrosis ISO RGD:1314043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 8833242 Dsp desmoplakin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314043 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:32233023 8833242 Dsp desmoplakin gene DOID:397 restrictive cardiomyopathy ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:11063735|PMID:16628197|PMID:21636032|PMID:24033266|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:31333075|PMID:31568572 8833242 Dsp desmoplakin gene DOID:5805 subvalvular aortic stenosis ISO RGD:1314043 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Subvalvular aortic stenosis PMID:25741868|PMID:28492532|PMID:31983221 8833242 Dsp desmoplakin gene DOID:630 genetic disease ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 8833242 Dsp desmoplakin gene DOID:6364 migraine ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:21606396|PMID:23292937|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26230511|PMID:26656175|PMID:27153395|PMID:28492532 8833242 Dsp desmoplakin gene DOID:820 myocarditis ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myocarditis PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28359509|PMID:28436997|PMID:28492532|PMID:32372669|PMID:32410525|PMID:34213952 8833242 Dsp desmoplakin gene DOID:850 lung disease ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:25741868 8833242 Dsp desmoplakin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1314043 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16917092|PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25525159|PMID:25741868|PMID:27532257|PMID:28471438|PMID:28492532|PMID:28527814|PMID:30291343|PMID:31402444|PMID:31447099|PMID:33232181|PMID:35036946 8833242 Dsp desmoplakin gene DOID:9000184 Ventricular Fibrillation ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532 8833242 Dsp desmoplakin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1314043 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:20129281|PMID:20152563|PMID:21606396|PMID:21636032|PMID:21723241|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:25637381|PMID:25661095|PMID:25693453|PMID:25741868|PMID:28471438|PMID:28492532|PMID:30775854|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221|PMID:33500567 8833242 Dsp desmoplakin gene DOID:9000727 Syncope ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:25741868 8833242 Dsp desmoplakin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1314043 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:20857253|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 8833242 Dsp desmoplakin gene DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic ISO RGD:1314043 D RGD:7240710 20180130 OMIM 8833242 Dsp desmoplakin gene DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:10395892|PMID:12101406|PMID:12802069|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20302578|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20613772|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30086531|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30919684|PMID:30975432|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32516855|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33722762|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34389451|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35087879|PMID:35581137|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36868229|PMID:37589201|PMID:37904629|PMID:9536098 8833242 Dsp desmoplakin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8833242 Dsp desmoplakin gene DOID:9003163 Heart Block ISO RGD:1314043 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:20857253|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 8833242 Dsp desmoplakin gene DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis ISO RGD:1314043 D RGD:7240710 20180130 OMIM 8833242 Dsp desmoplakin gene DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:12101406|PMID:12802069|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16628197|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:19597050|PMID:19863551|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20716751|PMID:20864495|PMID:20940358|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22795705|PMID:22949226|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23651034|PMID:23861362|PMID:24033266|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24825141|PMID:24981977|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25979592|PMID:26099957|PMID:26138720|PMID:26187847|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26399581|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27532257|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29607617|PMID:29633331|PMID:29802319|PMID:29915098|PMID:30165862|PMID:30276209|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30731207|PMID:30775854|PMID:30847666|PMID:30975432|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33460606|PMID:33500567|PMID:33652588|PMID:33722762|PMID:33996946|PMID:34026522|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34389451|PMID:34766015|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35087879|PMID:35581137|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36868229|PMID:37589201|PMID:37904629|PMID:9536098 8833242 Dsp desmoplakin gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:1314043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:28492532 8833242 Dsp desmoplakin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:24033266|PMID:25741868|PMID:28492532|PMID:28611029|PMID:29802319|PMID:30847666 8833242 Dsp desmoplakin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1314043 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31638414|PMID:31983221|PMID:36836569 8833242 Dsp desmoplakin gene DOID:9005974 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ISO RGD:1314043 D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair | ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:10395892|PMID:11278896|PMID:11841538|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:24503780|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30086531|PMID:30133754|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9229116|PMID:9536098 8833242 Dsp desmoplakin gene DOID:9005974 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ISO RGD:1314043 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:10395892|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20864495|PMID:21062920|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:24503780|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30086531|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30398466|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31110529|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:31983221|PMID:32277046|PMID:32372669|PMID:32600061|PMID:32746448|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33762593|PMID:33857019|PMID:34033898|PMID:34290054|PMID:34317553|PMID:34352074|PMID:35087879|PMID:9536098 8833242 Dsp desmoplakin gene DOID:9005974 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ISO RGD:1314043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair | ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome PMID:10395892|PMID:12101406|PMID:12802069|PMID:15210133|PMID:15941723|PMID:16175511|PMID:16199547|PMID:16774985|PMID:16917092|PMID:17576681|PMID:18382419|PMID:18632414|PMID:19597050|PMID:19863551|PMID:19924139|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20435227|PMID:20525856|PMID:20716751|PMID:20738328|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21264154|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21723241|PMID:21756917|PMID:21859740|PMID:22214898|PMID:22216297|PMID:22995991|PMID:23137101|PMID:23292937|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23465283|PMID:23514727|PMID:23524727|PMID:23651034|PMID:23671136|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24448499|PMID:2450378|PMID:24503780|PMID:24704780|PMID:24825141|PMID:24981977|PMID:25163546|PMID:25196244|PMID:25225338|PMID:25227139|PMID:25351510|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25550050|PMID:25569433|PMID:25616645|PMID:25637381|PMID:25661095|PMID:25676813|PMID:25691752|PMID:25693453|PMID:25741868|PMID:25765472|PMID:25819062|PMID:25820315|PMID:25856671|PMID:25979592|PMID:26073755|PMID:26099957|PMID:26138720|PMID:26148547|PMID:26187847|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26399581|PMID:26498160|PMID:26569459|PMID:26585738|PMID:26604139|PMID:26606670|PMID:26656175|PMID:26675346|PMID:26743238|PMID:26833927|PMID:26899768|PMID:27000522|PMID:27054166|PMID:27097650|PMID:27135274|PMID:27153395|PMID:27194543|PMID:27329731|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27707468|PMID:27884173|PMID:27930701|PMID:28045975|PMID:28074886|PMID:28087426|PMID:28254189|PMID:28255936|PMID:28288337|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28473349|PMID:28492532|PMID:28527814|PMID:28600387|PMID:28611029|PMID:28759816|PMID:28790152|PMID:28798025|PMID:29095814|PMID:29178656|PMID:29192238|PMID:29247119|PMID:29253866|PMID:29511324|PMID:29590070|PMID:29607617|PMID:29633331|PMID:29750433|PMID:29759408|PMID:29802319|PMID:29915098|PMID:30086531|PMID:30165862|PMID:30276209|PMID:30354334|PMID:30398466|PMID:30615648|PMID:30685992|PMID:30699244|PMID:30731207|PMID:30775854|PMID:30820396|PMID:30847666|PMID:30975432|PMID:31073624|PMID:31110529|PMID:31114860|PMID:31118017|PMID:31264976|PMID:31333075|PMID:31378211|PMID:31402444|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31770195|PMID:31785789|PMID:3198322|PMID:31983221|PMID:32114801|PMID:32277046|PMID:32372669|PMID:32516855|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32879264|PMID:32880476|PMID:32931854|PMID:32942234|PMID:32969603|PMID:33029862|PMID:33082984|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33722762|PMID:33762593|PMID:33857019|PMID:33996946|PMID:34026522|PMID:34033898|PMID:34290054|PMID:34298581|PMID:34317553|PMID:34352074|PMID:34389451|PMID:34815391|PMID:34935411|PMID:35008956|PMID:35087879|PMID:35581137|PMID:35819174|PMID:36178741|PMID:36431211|PMID:36672924|PMID:36768812|PMID:36868229|PMID:37589201|PMID:37904629|PMID:9536098 8833242 Dsp desmoplakin gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mcgrath syndrome PMID:18632414|PMID:21636032|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 8833242 Dsp desmoplakin gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8833242 Dsp desmoplakin gene DOID:9007820 Sudden Death ISO RGD:1314043 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death PMID:20031617|PMID:20152563|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27332903|PMID:28492532|PMID:28611029|PMID:29802319|PMID:30847666 8833242 Dsp desmoplakin gene DOID:9007925 Sudden Cardiac Death ISO RGD:1314043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20435227 8833242 Dsp desmoplakin gene DOID:9008086 Developmental Disabilities ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741904|PMID:28527814|PMID:31028357 8833242 Dsp desmoplakin gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1314043 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:28492532 8833242 Dsp desmoplakin gene DOID:9008195 Subvalvular Aortic Stenosis, Eisenberg Type ISO RGD:1314043 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Subvalvular aortic stenosis, Eisenberg type PMID:25741868|PMID:28492532|PMID:31983221 8833242 Dsp desmoplakin gene DOID:9120 amyloidosis ISO RGD:1314043 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:24033266|PMID:24825141|PMID:25741868|PMID:28492532|PMID:33232181|PMID:35008956 8833242 Dsp desmoplakin gene DOID:9651 systolic heart failure ISO RGD:1314043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8833280 Eny2 ENY2 transcription and export complex 2 subunit gene DOID:630 genetic disease ISO RGD:1601985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833306 Znhit6 zinc finger HIT-type containing 6 gene DOID:630 genetic disease ISO RGD:1607024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833325 Hsbp1 heat shock factor binding protein 1 gene DOID:630 genetic disease ISO RGD:736685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:0050336 hypophosphatemia ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypophosphatemia PMID:25741868 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:0050568 spondylocostal dysostosis ISO RGD:1314232 D RGD:9068941 20220825 MouseDO 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:0060249 scoliosis ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1314231 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:18775957 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:0112364 spondylocostal dysostosis 4 ISO RGD:1314231 D RGD:7240710 20180130 OMIM 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:0112364 spondylocostal dysostosis 4 ISO RGD:1314231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 4, autosomal recessive PMID:18775957|PMID:20087400|PMID:23897666|PMID:25741868|PMID:28492532 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:1059 intellectual disability ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:10907 microcephaly ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Progressive microcephaly PMID:25741868 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:11502 mitral valve insufficiency ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:25741868 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:12177 common variable immunodeficiency ISO RGD:1314231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1314231 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:2256 osteochondrodysplasia ISO RGD:1314231 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:2340 craniosynostosis ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brachycephaly PMID:25741868 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:2729 dyskeratosis congenita ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:630 genetic disease ISO RGD:1314231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:9003430 Sprengel Deformity ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sprengel's shoulder PMID:25741868 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:12315095 D RGD:9068941 20230824 OMIA Spondylocostal dysostosis, autosomal recessive PMID:25659135|PMID:37582787 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1314231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8833333 Hes7 hes family bHLH transcription factor 7 gene DOID:9007661 Dwarfism ISO RGD:1314231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Disproportionate short stature PMID:25741868 8833346 Pcgf1 polycomb group ring finger 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1349943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8833346 Pcgf1 polycomb group ring finger 1 gene DOID:543 dystonia ISO RGD:1349943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8833346 Pcgf1 polycomb group ring finger 1 gene DOID:630 genetic disease ISO RGD:1349943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833346 Pcgf1 polycomb group ring finger 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1349943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8833359 Rgs17 regulator of G protein signaling 17 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1313587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 8833359 Rgs17 regulator of G protein signaling 17 gene DOID:630 genetic disease ISO RGD:1313587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833359 Rgs17 regulator of G protein signaling 17 gene DOID:670 amphetamine abuse ISO RGD:1313587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8833379 Sema3f semaphorin 3F gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8833379 Sema3f semaphorin 3F gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8833379 Sema3f semaphorin 3F gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8833379 Sema3f semaphorin 3F gene DOID:1921 Klinefelter syndrome ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8833379 Sema3f semaphorin 3F gene DOID:630 genetic disease ISO RGD:1318327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8833379 Sema3f semaphorin 3F gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8833379 Sema3f semaphorin 3F gene DOID:9004538 Hearing Loss ISO RGD:1318327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8833379 Sema3f semaphorin 3F gene DOID:9007715 Endometrial Neoplasms ISO RGD:1318327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21933904 8833379 Sema3f semaphorin 3F gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318327 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8833408 Chst7 carbohydrate sulfotransferase 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8833408 Chst7 carbohydrate sulfotransferase 7 gene DOID:12849 autistic disorder ISO RGD:1344494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8833408 Chst7 carbohydrate sulfotransferase 7 gene DOID:630 genetic disease ISO RGD:1344494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833408 Chst7 carbohydrate sulfotransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8833408 Chst7 carbohydrate sulfotransferase 7 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1344494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 8833427 Vps72 vacuolar protein sorting 72 homolog gene DOID:0080422 Dravet syndrome ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8833427 Vps72 vacuolar protein sorting 72 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8833427 Vps72 vacuolar protein sorting 72 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8833427 Vps72 vacuolar protein sorting 72 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8833427 Vps72 vacuolar protein sorting 72 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8833427 Vps72 vacuolar protein sorting 72 homolog gene DOID:5812 MHC class II deficiency ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8833427 Vps72 vacuolar protein sorting 72 homolog gene DOID:630 genetic disease ISO RGD:1314551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833427 Vps72 vacuolar protein sorting 72 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8833442 Bach1 BTB domain and CNC homolog 1 gene DOID:630 genetic disease ISO RGD:1315457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833451 S100pbp S100P binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604319 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098 8833451 S100pbp S100P binding protein gene DOID:630 genetic disease ISO RGD:1604319 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8833451 S100pbp S100P binding protein gene DOID:9005516 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 ISO RGD:1604319 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset PMID:25741868 8833482 Sstr3 somatostatin receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8833482 Sstr3 somatostatin receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1343520 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8833482 Sstr3 somatostatin receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1343520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8833482 Sstr3 somatostatin receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8833482 Sstr3 somatostatin receptor 3 gene DOID:169 neuroendocrine tumor ISO RGD:1343520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 8833482 Sstr3 somatostatin receptor 3 gene DOID:1793 pancreatic cancer ISO RGD:1343520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 8833482 Sstr3 somatostatin receptor 3 gene DOID:1824 status epilepticus ISO RGD:1343520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 8833482 Sstr3 somatostatin receptor 3 gene DOID:630 genetic disease ISO RGD:1343520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833482 Sstr3 somatostatin receptor 3 gene DOID:9000998 Brain Injuries ISO RGD:620308 D RGD:9068941 20200609 RGD PMID:11879809|REF_RGD_ID:2325002 8833482 Sstr3 somatostatin receptor 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620308 D RGD:9068941 20200609 RGD PMID:7956902|REF_RGD_ID:2325008 8833505 LOC102030039 keratin-associated protein 27-1 gene DOID:630 genetic disease ISO RGD:2292072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833508 Sytl1 synaptotagmin like 1 gene DOID:630 genetic disease ISO RGD:1321784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833527 Eps8 EGFR pathway substrate 8, signaling adaptor gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1321587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:25741868|PMID:30303587 8833527 Eps8 EGFR pathway substrate 8, signaling adaptor gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1321587 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8833527 Eps8 EGFR pathway substrate 8, signaling adaptor gene DOID:0080261 autosomal recessive nonsyndromic deafness 106 ISO RGD:1321587 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 106 PMID:25741868|PMID:28492532 8833527 Eps8 EGFR pathway substrate 8, signaling adaptor gene DOID:0080600 COVID-19 ISO RGD:1321587 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8833527 Eps8 EGFR pathway substrate 8, signaling adaptor gene DOID:0110463 autosomal recessive nonsyndromic deafness 102 ISO RGD:1321587 D RGD:7240710 20180130 OMIM 8833527 Eps8 EGFR pathway substrate 8, signaling adaptor gene DOID:0110463 autosomal recessive nonsyndromic deafness 102 ISO RGD:1321587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 102 PMID:24033266|PMID:24741995|PMID:25741868|PMID:28492532|PMID:30303587 8833527 Eps8 EGFR pathway substrate 8, signaling adaptor gene DOID:630 genetic disease ISO RGD:1321587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8833527 Eps8 EGFR pathway substrate 8, signaling adaptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1321587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19799886 8833527 Eps8 EGFR pathway substrate 8, signaling adaptor gene DOID:9008681 Deafness ISO RGD:1321587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587 8833558 Atp6v1f ATPase H+ transporting V1 subunit F gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1351850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 8833558 Atp6v1f ATPase H+ transporting V1 subunit F gene DOID:0080600 COVID-19 ISO RGD:1351850 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8833558 Atp6v1f ATPase H+ transporting V1 subunit F gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1351850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 8833558 Atp6v1f ATPase H+ transporting V1 subunit F gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8833558 Atp6v1f ATPase H+ transporting V1 subunit F gene DOID:630 genetic disease ISO RGD:1351850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833569 Pwwp3a PWWP domain containing 3A, DNA repair factor gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1318053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8833569 Pwwp3a PWWP domain containing 3A, DNA repair factor gene DOID:5339 cyclic hematopoiesis ISO RGD:1318053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8833569 Pwwp3a PWWP domain containing 3A, DNA repair factor gene DOID:630 genetic disease ISO RGD:1318053 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833593 Cramp1 cramped chromatin regulator homolog 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1323669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 8833593 Cramp1 cramped chromatin regulator homolog 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1323669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8833593 Cramp1 cramped chromatin regulator homolog 1 gene DOID:1826 epilepsy ISO RGD:1323669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8833593 Cramp1 cramped chromatin regulator homolog 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1323669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8833593 Cramp1 cramped chromatin regulator homolog 1 gene DOID:630 genetic disease ISO RGD:1323669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:0050795 cone dystrophy ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:0050807 Kahrizi syndrome ISO RGD:1606233 D RGD:7240710 20180130 OMIM 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:0050807 Kahrizi syndrome ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE PMID:18781183|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606233 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:0080568 congenital disorder of glycosylation Iq ISO RGD:1606233 D RGD:7240710 20180130 OMIM 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:0080568 congenital disorder of glycosylation Iq ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q PMID:17576681|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:26219881|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31319225|PMID:31638560|PMID:32581362|PMID:9536098 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:1059 intellectual disability ISO RGD:1606233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1606233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23349890 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:12849 autistic disorder ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:255 hemangioma ISO RGD:1606233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemangioma PMID:25741868|PMID:28492532 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:17576681|PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362|PMID:9536098 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:630 genetic disease ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27480077|PMID:28492532 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1606233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:28492532 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 8833621 Srd5a3 steroid 5 alpha-reductase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1606233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20637498|PMID:20700148|PMID:20852264|PMID:22304929|PMID:24433453|PMID:25326635|PMID:25741868|PMID:27480077|PMID:28492532|PMID:28940310|PMID:31638560|PMID:32581362 8833633 Tspan4 tetraspanin 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8833633 Tspan4 tetraspanin 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1314069 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8833633 Tspan4 tetraspanin 4 gene DOID:0111969 immunodeficiency 39 ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8833633 Tspan4 tetraspanin 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8833633 Tspan4 tetraspanin 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8833633 Tspan4 tetraspanin 4 gene DOID:630 genetic disease ISO RGD:1314069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833633 Tspan4 tetraspanin 4 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1314069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8833658 Lamb1 laminin subunit beta 1 gene DOID:0050453 lissencephaly ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8833658 Lamb1 laminin subunit beta 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8833658 Lamb1 laminin subunit beta 1 gene DOID:0112230 lissencephaly 5 ISO RGD:1314859 D RGD:7240710 20180130 OMIM 8833658 Lamb1 laminin subunit beta 1 gene DOID:0112230 lissencephaly 5 ISO RGD:1314859 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Lissencephaly 5 PMID:16199547|PMID:23472759|PMID:25326635|PMID:25741868|PMID:25925986|PMID:28492532 8833658 Lamb1 laminin subunit beta 1 gene DOID:0112237 lissencephaly 1 ISO RGD:1314859 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Classic lissencephaly 8833658 Lamb1 laminin subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8833658 Lamb1 laminin subunit beta 1 gene DOID:12270 coloboma ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18809619 8833658 Lamb1 laminin subunit beta 1 gene DOID:12849 autistic disorder ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15523497 8833658 Lamb1 laminin subunit beta 1 gene DOID:12849 autistic disorder ISO RGD:1314859 D RGD:9068941 20200609 RGD PMID:15523497|REF_RGD_ID:1624317 8833658 Lamb1 laminin subunit beta 1 gene DOID:289 endometriosis ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8833658 Lamb1 laminin subunit beta 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 8833658 Lamb1 laminin subunit beta 1 gene DOID:3652 Leigh disease ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 8833658 Lamb1 laminin subunit beta 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28444932 8833658 Lamb1 laminin subunit beta 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8833658 Lamb1 laminin subunit beta 1 gene DOID:630 genetic disease ISO RGD:1314859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8833658 Lamb1 laminin subunit beta 1 gene DOID:8577 ulcerative colitis ISO RGD:1314859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 8833658 Lamb1 laminin subunit beta 1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1314859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 8833658 Lamb1 laminin subunit beta 1 gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1314859 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Classic lissencephaly 8833658 Lamb1 laminin subunit beta 1 gene DOID:9269 maple syrup urine disease ISO RGD:1314859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:25741868|PMID:28492532 8833695 Mtmr12 myotubularin related protein 12 gene DOID:630 genetic disease ISO RGD:1317364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833695 Mtmr12 myotubularin related protein 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8833715 LOC102008952 chromosome unknown open reading frame, human C1orf131 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1605298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 8833715 LOC102008952 chromosome unknown open reading frame, human C1orf131 gene DOID:1540 parathyroid carcinoma ISO RGD:1605298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8833715 LOC102008952 chromosome unknown open reading frame, human C1orf131 gene DOID:630 genetic disease ISO RGD:1605298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833715 LOC102008952 chromosome unknown open reading frame, human C1orf131 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1605298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8833715 LOC102008952 chromosome unknown open reading frame, human C1orf131 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8833731 Patl1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8833731 Patl1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:1059 intellectual disability ISO RGD:1606423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8833731 Patl1 PAT1 homolog 1, processing body mRNA decay factor gene DOID:630 genetic disease ISO RGD:1606423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833754 Idnk IDNK gluconokinase gene DOID:630 genetic disease ISO RGD:1347065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833789 Ptpn14 protein tyrosine phosphatase non-receptor type 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8833789 Ptpn14 protein tyrosine phosphatase non-receptor type 14 gene DOID:2513 basal cell carcinoma ISO RGD:1317339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 8833789 Ptpn14 protein tyrosine phosphatase non-receptor type 14 gene DOID:630 genetic disease ISO RGD:1317339 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8833789 Ptpn14 protein tyrosine phosphatase non-receptor type 14 gene DOID:769 neuroblastoma ISO RGD:1317339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 8833789 Ptpn14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9002801 Recurrence ISO RGD:1317339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 8833789 Ptpn14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9007154 Choanal Atresia and Lymphedema ISO RGD:1317339 D RGD:7240710 20180130 OMIM 8833789 Ptpn14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9007154 Choanal Atresia and Lymphedema ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choanal atresia and lymphedema PMID:20826270|PMID:25741868 8833789 Ptpn14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8833789 Ptpn14 protein tyrosine phosphatase non-receptor type 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8833811 Gp9 glycoprotein IX platelet gene DOID:0111947 immunodeficiency 21 ISO RGD:1351167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8833811 Gp9 glycoprotein IX platelet gene DOID:1588 thrombocytopenia ISO RGD:1351167 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:14510954|PMID:25370924|PMID:25741868|PMID:28131619|PMID:28492532|PMID:28765788|PMID:31064749|PMID:8049428|PMID:8481514 8833811 Gp9 glycoprotein IX platelet gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1351167 D RGD:7240710 20180130 OMIM 8833811 Gp9 glycoprotein IX platelet gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1351167 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency PMID:11167791|PMID:14510954|PMID:21173099|PMID:21699652|PMID:23402648|PMID:24934643|PMID:25370924|PMID:25539746|PMID:25741868|PMID:25949529|PMID:28131619|PMID:28395735|PMID:28399723|PMID:28492532|PMID:28561420|PMID:28765788|PMID:29043243|PMID:29636940|PMID:31064749|PMID:32202057|PMID:32581362|PMID:34355501|PMID:8049428|PMID:8481514|PMID:9163595|PMID:9432024 8833811 Gp9 glycoprotein IX platelet gene DOID:2217 Bernard-Soulier syndrome severity ISO RGD:1351167 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.182A>G(p.N61S)(human) PMID:28131619|REF_RGD_ID:13464128 8833811 Gp9 glycoprotein IX platelet gene DOID:630 genetic disease ISO RGD:1351167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8833811 Gp9 glycoprotein IX platelet gene DOID:9001316 Bernard-Soulier Syndrome, Type C ISO RGD:1351167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome type C PMID:11167791|PMID:12100158|PMID:13442197|PMID:14510954|PMID:21173099|PMID:21699652|PMID:23402648|PMID:25370924|PMID:25539746|PMID:25741868|PMID:28131619|PMID:28395735|PMID:28492532|PMID:28765788|PMID:29636940|PMID:31064749|PMID:32581362|PMID:34355501|PMID:8049428|PMID:8481514|PMID:9163595|PMID:9432024|PMID:9886312 8833811 Gp9 glycoprotein IX platelet gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1351167 D RGD:9068941 20200609 RGD PMID:23103637|REF_RGD_ID:11040532 8833811 Gp9 glycoprotein IX platelet gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8833811 Gp9 glycoprotein IX platelet gene DOID:9270 alkaptonuria ISO RGD:1351167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8833817 Eif5b eukaryotic translation initiation factor 5B gene DOID:630 genetic disease ISO RGD:1353401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833858 Acvr1 activin A receptor type 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8833858 Acvr1 activin A receptor type 1 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:734161 D RGD:9068941 20230427 RGD PMID:22536403|REF_RGD_ID:329337340 8833858 Acvr1 activin A receptor type 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1344480 D RGD:9068941 20230427 RGD DNA:SNP:3'utr: (rs12997) PMID:33443061|REF_RGD_ID:329328928 8833858 Acvr1 activin A receptor type 1 gene DOID:13129 severe pre-eclampsia severity ISO RGD:1344480 D RGD:9068941 20230525 RGD mRNA:increased expression:decidua basalis (human) PMID:24331737|REF_RGD_ID:329845529 8833858 Acvr1 activin A receptor type 1 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1344480 D RGD:7240710 20190508 OMIM 8833858 Acvr1 activin A receptor type 1 gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1344480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans PMID:10441661|PMID:16642017|PMID:17077940|PMID:17272450|PMID:17351709|PMID:17576681|PMID:18203193|PMID:18684712|PMID:18830232|PMID:18952055|PMID:19085907|PMID:19330033|PMID:21044902|PMID:21377447|PMID:21525719|PMID:21567927|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23302548|PMID:23653868|PMID:24051199|PMID:24259422|PMID:24705251|PMID:25326637|PMID:25741868|PMID:26058333|PMID:26619011|PMID:28492532|PMID:29482508|PMID:30379592|PMID:35511419|PMID:5033743|PMID:7068725|PMID:818090|PMID:9536098 8833858 Acvr1 activin A receptor type 1 gene DOID:13641 exfoliation syndrome disease_progression ISO RGD:1344480 D RGD:9068941 20230525 RGD DNA:missense mutation:SNP:rs12997 (human) PMID:32641001|REF_RGD_ID:329845517 8833858 Acvr1 activin A receptor type 1 gene DOID:1405 primary angle-closure glaucoma sexual_dimorphism ISO RGD:1344480 D RGD:9068941 20230525 RGD DNA:missense mutation:SNP:rs12997 (human) PMID:32641001|REF_RGD_ID:329845517 8833858 Acvr1 activin A receptor type 1 gene DOID:1657 ventricular septal defect ISO RGD:734161 D RGD:9068941 20230427 RGD PMID:22536403|REF_RGD_ID:329337340 8833858 Acvr1 activin A receptor type 1 gene DOID:1682 congenital heart disease ISO RGD:734161 D RGD:9068941 20230427 RGD PMID:24680892|REF_RGD_ID:329328929 8833858 Acvr1 activin A receptor type 1 gene DOID:1793 pancreatic cancer ISO RGD:1344480 D RGD:9068941 20200609 RGD PMID:9714055|REF_RGD_ID:2317217 8833858 Acvr1 activin A receptor type 1 gene DOID:3069 malignant astrocytoma ISO RGD:1344480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705250 8833858 Acvr1 activin A receptor type 1 gene DOID:3070 high grade glioma ISO RGD:1344480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:19085907|PMID:19330033|PMID:22977237|PMID:24705250|PMID:24705254|PMID:25326637|PMID:25741868|PMID:26619011|PMID:31779674|PMID:7068725|PMID:818090 8833858 Acvr1 activin A receptor type 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:734161 D RGD:9068941 20230525 RGD PMID:33345977|REF_RGD_ID:329845521 8833858 Acvr1 activin A receptor type 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:1344480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:25326637|PMID:26619011 8833858 Acvr1 activin A receptor type 1 gene DOID:630 genetic disease ISO RGD:1344480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16642017|PMID:17077940|PMID:17272450|PMID:17351709|PMID:18684712|PMID:18830232|PMID:19085907|PMID:19330033|PMID:21525719|PMID:22351757|PMID:22508565|PMID:22977237|PMID:23302548|PMID:23653868|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29482508|PMID:30379592|PMID:35511419|PMID:5033743|PMID:7068725|PMID:818090 8833858 Acvr1 activin A receptor type 1 gene DOID:668 myositis ossificans ISO RGD:1344480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8833858 Acvr1 activin A receptor type 1 gene DOID:83 cataract ISO RGD:734161 D RGD:9068941 20230429 RGD PMID:21504908|REF_RGD_ID:8547757 8833858 Acvr1 activin A receptor type 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620200 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney PMID:11675415|REF_RGD_ID:2313802 8833858 Acvr1 activin A receptor type 1 gene DOID:9004059 Eye Neoplasms ISO RGD:734161 D RGD:9068941 20230429 RGD PMID:21504908|REF_RGD_ID:8547757 8833858 Acvr1 activin A receptor type 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:1344480 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:24705250|PMID:24705254|PMID:26619011|PMID:31779674 8833858 Acvr1 activin A receptor type 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1344480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297076 8833858 Acvr1 activin A receptor type 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:620200 D RGD:9068941 20230527 RGD mRNA:increased expression:carotic artery (rat) PMID:9622270|REF_RGD_ID:329845558 8833858 Acvr1 activin A receptor type 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1344480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 8833897 Fnta farnesyltransferase, CAAX box, alpha gene DOID:0090039 torsion dystonia 6 ISO RGD:730816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 8833897 Fnta farnesyltransferase, CAAX box, alpha gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:730816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 8833897 Fnta farnesyltransferase, CAAX box, alpha gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:730816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:28492532 8833897 Fnta farnesyltransferase, CAAX box, alpha gene DOID:0111959 immunodeficiency 15B ISO RGD:730816 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8833897 Fnta farnesyltransferase, CAAX box, alpha gene DOID:630 genetic disease ISO RGD:730816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833897 Fnta farnesyltransferase, CAAX box, alpha gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:730816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 8833897 Fnta farnesyltransferase, CAAX box, alpha gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:730816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:20203246|REF_RGD_ID:5135461 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNPs: :3050G>C, 8473C>T (human) PMID:21319594|REF_RGD_ID:5135280 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:14511257|REF_RGD_ID:5135507 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050424 familial adenomatous polyposis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942926 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050700 cardiomyopathy ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11978490 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:18413499|REF_RGD_ID:4891909 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:19522023 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:breast PMID:18199541|REF_RGD_ID:2300203 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18237383|REF_RGD_ID:2300199 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0060180 colitis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0060180 colitis treatment ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17543437|REF_RGD_ID:2298659 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0060903 thrombosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20350286 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:26723251|REF_RGD_ID:11086779 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080322 polycystic kidney disease ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17537981|REF_RGD_ID:2300262 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080600 COVID-19 ISO RGD:731006 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080820 occupational asthma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:mast cell PMID:9487340|REF_RGD_ID:5143936 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080855 Parkinsonism ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:16781689|REF_RGD_ID:5688269 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080855 Parkinsonism ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:21376018|REF_RGD_ID:5508224 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0080855 Parkinsonism ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neostriatum PMID:15306248|REF_RGD_ID:5688225 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0081120 Graves ophthalmopathy ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17614770 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:0081292 traumatic brain injury ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10247 pleurisy ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:15740981|PMID:20141620|REF_RGD_ID:4142808|REF_RGD_ID:5143929 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1195G>A (human) PMID:26788504|REF_RGD_ID:11554936 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21701788|REF_RGD_ID:5688147 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:9740394|REF_RGD_ID:5688252 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:decreased expression:neocortex, hippocampus PMID:8892355|REF_RGD_ID:5688254 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1067 open-angle glaucoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330497 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10762 portal hypertension ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17876871|REF_RGD_ID:1642587 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10763 hypertension ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:15775781|PMID:16467505|REF_RGD_ID:1580671|REF_RGD_ID:1581285 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10763 hypertension ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14757778|PMID:15834289|PMID:20667508|PMID:22349312 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17673547|REF_RGD_ID:2300260 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344|PMID:11376495|PMID:12481160|PMID:19066340|PMID:9024292 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17673547|REF_RGD_ID:2300260 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer ISO RGD:731006 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:10582676|PMID:10873095|PMID:12442003|PMID:12664575|PMID:16098373|PMID:17093206|PMID:29396848|PMID:36115647 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:18222600|REF_RGD_ID:2300200 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:21255800|REF_RGD_ID:5508302 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:837T>C (human) PMID:18381966|REF_RGD_ID:2300127 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11088 asphyxia neonatorum ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11111 hydronephrosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22430074 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11132 prostatic hypertrophy ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:25546515|REF_RGD_ID:11566048 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11335 sarcoidosis ISO RGD:731006 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:14511257|REF_RGD_ID:5135507 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11335 sarcoidosis susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP: :8473 T > C (human) PMID:19042116|REF_RGD_ID:5135505 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11383 cryptorchidism ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:22777528|REF_RGD_ID:11567213 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:118 pericardial effusion ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20801906 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11832 visual epilepsy ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17827730|REF_RGD_ID:1642596 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1184 nephrotic syndrome ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:19194550|REF_RGD_ID:2317535 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neuron PMID:12663931|REF_RGD_ID:5688237 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:11963 esophagitis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; PMID:20811626|REF_RGD_ID:5131286 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:12466 secondary hyperparathyroidism ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Uremia PMID:21335517|REF_RGD_ID:5135046 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:12466 secondary hyperparathyroidism ISO RGD:731006 D RGD:9068941 20200609 RGD associated with kidney failure, chronic: protein:increased expression:parathyroid gland PMID:21335517|REF_RGD_ID:5135046 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:12849 autistic disorder ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18579107 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:12858 Huntington's disease ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21362433|REF_RGD_ID:5508227 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1287 cardiovascular system disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17518513 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1287 cardiovascular system disease ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:21843325|REF_RGD_ID:5508196 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1324 lung cancer ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21303331|REF_RGD_ID:5135048 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:13948 bladder neck obstruction ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15311063 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20155627 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:14654 prostatitis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18554636|REF_RGD_ID:5135220 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1485 cystic fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNPs: :-765G>C and 8473T>C (human) PMID:20720307|REF_RGD_ID:5135298 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1485 cystic fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:18711055|REF_RGD_ID:5135523 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:731006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1561 cognitive disorder ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12410334 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1596 depressive disorder ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19356723 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1679 cystitis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20602232|REF_RGD_ID:5135058 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1724 duodenal ulcer ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12481160 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248|PMID:18202791 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485483|PMID:10657949|PMID:15705899|PMID:16820089 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:20216081|REF_RGD_ID:2317175 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:19820419|REF_RGD_ID:2317179 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNPs: :-1195A > G, -765G > C (human) PMID:19062735|REF_RGD_ID:5135527 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-1195A>A ,-765G>C (human) PMID:19422084|REF_RGD_ID:2317184 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1824 status epilepticus ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20643531|REF_RGD_ID:5135057 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1824 status epilepticus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988310 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1909 melanoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863|PMID:17499752|PMID:18454317 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1936 atherosclerosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:1967 leiomyosarcoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645019 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2154 nephroblastoma ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16945639|REF_RGD_ID:2300206 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:12535784|REF_RGD_ID:1581286 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:21718970|REF_RGD_ID:6480433 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15737438|PMID:17394460|PMID:17564305|PMID:19417757 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:11158633|REF_RGD_ID:5688292 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2349 arteriosclerosis ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:16458279|REF_RGD_ID:1581287 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2349 arteriosclerosis resistance ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17643885|REF_RGD_ID:1642592 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2384 Wernicke encephalopathy ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:medial thalamic group, inferior colliculus, neuron PMID:18481165|REF_RGD_ID:2300278 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2615 papilloma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:16144915 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2671 transitional cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10582676|PMID:10873095|PMID:12151359|PMID:12664575 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18449376|REF_RGD_ID:2300124 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung: PMID:18097056|REF_RGD_ID:5135534 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:19862936|REF_RGD_ID:5135515 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:19342146|REF_RGD_ID:5135522 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19878559|REF_RGD_ID:5135514 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma severity ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP: :rs689465 (human) PMID:18489027|REF_RGD_ID:5135526 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:15316498|REF_RGD_ID:5143931 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2841 asthma susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP: :8473T>C (human) PMID:17573729|REF_RGD_ID:5143923 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:289 endometriosis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20056215|REF_RGD_ID:5135061 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:289 endometriosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:289 endometriosis treatment ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:23406865|REF_RGD_ID:7257718 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:299 adenocarcinoma ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Esophageal Neoplasms PMID:17675820|REF_RGD_ID:1642603 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:299 adenocarcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485483|PMID:16820089 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:2999 granulosa cell tumor ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21153458 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3021 acute kidney failure ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21893983|REF_RGD_ID:5508181 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:305 carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485483 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3068 glioblastoma ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:10229132|REF_RGD_ID:5688250 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3068 glioblastoma disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:11121536|REF_RGD_ID:5688245 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3070 high grade glioma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15561105 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3071 gliosarcoma ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:10229132|REF_RGD_ID:5688250 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:polymorphism: :g.-765G>C (human) PMID:21655952|REF_RGD_ID:5135277 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:15949313|REF_RGD_ID:5143926 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3213 demyelinating disease ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:14694045|REF_RGD_ID:5688228 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3213 demyelinating disease ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21530210|REF_RGD_ID:5688267 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3312 bipolar disorder ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prefrontal cortex PMID:20038946|REF_RGD_ID:5688160 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11220737|PMID:15816863 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, neuron, glia PMID:14511332|REF_RGD_ID:5688235 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3393 coronary artery disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14642682 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:18670639|REF_RGD_ID:2317185 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:37 skin disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15451306 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15756444|PMID:16543248|PMID:18197933 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17825173|REF_RGD_ID:1642597 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with sarcoidosis; DNA:SNP: :-765G>C (human) PMID:21681100|REF_RGD_ID:5135504 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP: :929G>C(human) PMID:20016751|REF_RGD_ID:5135471 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20592629|REF_RGD_ID:5135302 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4029 gastritis ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach mucosa PMID:18646190|REF_RGD_ID:2300274 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:403 mouth disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:418 systemic scleroderma ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:21979415|REF_RGD_ID:5508306 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4195 hyperglycemia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14514642 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4450 renal cell carcinoma ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:12708469|REF_RGD_ID:2300212 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4450 renal cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12664575 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:17899436|REF_RGD_ID:2300204 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4481 allergic rhinitis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16979129 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4492 avian influenza ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18613795|REF_RGD_ID:5135502 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4543 retrograde amnesia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18523723|REF_RGD_ID:2300277 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12507933 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD protein: increased expression: esophagus PMID:12055587|REF_RGD_ID:13207437 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:731006 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4989 pancreatitis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19820421 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:4989 pancreatitis onset ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:21372163|REF_RGD_ID:5508226 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:731006 D RGD:9068941 20200609 RGD human gene in mouse model PMID:29109031|REF_RGD_ID:14695008 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:21846384|REF_RGD_ID:5508195 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:5394 prolactinoma ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:5419 schizophrenia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17881518|REF_RGD_ID:1642594 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12969226 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:557 kidney disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19643929 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:576 proteinuria ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19643929 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:5773 oral submucous fibrosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:5844 myocardial infarction ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:15138244|REF_RGD_ID:1581289 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:6000 congestive heart failure ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland PMID:22580984|REF_RGD_ID:11667097 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:630 genetic disease ISO RGD:731006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18542928|REF_RGD_ID:2300276 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:731007 D RGD:9068941 20200609 RGD anoxia associated; PMID:19577709|REF_RGD_ID:5135495 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18373278|REF_RGD_ID:2300283 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11872629|PMID:12024111|PMID:14563831|PMID:16374840|PMID:17510421 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver PMID:24759835|REF_RGD_ID:14695011 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:liver, cytosol PMID:15800977|REF_RGD_ID:14695012 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1195A>G (rs689466) (human) PMID:24720952|REF_RGD_ID:14695010 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620349 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:707 B-cell lymphoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14654083 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11978490|PMID:19192274 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:21905970|REF_RGD_ID:5508313 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16514081 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:783 end stage renal disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:820 myocarditis ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:16107267|REF_RGD_ID:1581288 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8398 osteoarthritis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:32004530 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8398 osteoarthritis susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:15334463|REF_RGD_ID:1625347 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8437 intestinal obstruction ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:21051526|REF_RGD_ID:5135055 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:850 lung disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19084589 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8534 gastroesophageal reflux disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21451212 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8577 ulcerative colitis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17429720|REF_RGD_ID:2300267 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:863 nervous system disease ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10698006 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:731006 D RGD:9068941 20200609 RGD protein:altered localization PMID:18468781|REF_RGD_ID:2300123 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8719 in situ carcinoma ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10582676|PMID:10873095 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8719 in situ carcinoma ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18617777|REF_RGD_ID:2317186 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8719 in situ carcinoma ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17652141|REF_RGD_ID:2317187 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8778 Crohn's disease ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:21763290|REF_RGD_ID:5508200 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix, epithelial cell PMID:18565574|REF_RGD_ID:2299119 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:19606394|REF_RGD_ID:2317181 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17575102|REF_RGD_ID:2317188 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-765G>C (rs20417), -1195G>A (rs689466) (human) PMID:19455278|REF_RGD_ID:2317182 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18606213|REF_RGD_ID:5135219 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19376970 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with Biliary Tract Neoplasms PMID:18159174|REF_RGD_ID:2317165 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18353210|REF_RGD_ID:2300128 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; DNA:SNP: :929G>C(human) PMID:20016751|REF_RGD_ID:5135471 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:Esophagus PMID:22165968|REF_RGD_ID:5687745 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11059772|PMID:16322294|PMID:17707579 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000117 Esophageal Neoplasms susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:SNPs: :-1195A > G, -765G > C (human) PMID:16083713|REF_RGD_ID:5135528 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000197 Edema ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10404093|PMID:17003101|PMID:17224647|PMID:22385256 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15492235 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:21725746|REF_RGD_ID:5508204 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000641 Pain ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18497304|REF_RGD_ID:2300228 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000641 Pain ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Osteoarthritis, Knee;mRNA, protein:increased expression:spinal cord PMID:18637715|REF_RGD_ID:2300223 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000641 Pain susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD associated with lung neoplasm;DNA:SNP:exon:rs5275 (human) PMID:19773451|REF_RGD_ID:5135482 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000784 Fibrosis ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:18462380|REF_RGD_ID:2300279 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000784 Fibrosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11872629 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17699727|REF_RGD_ID:2290567 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21048090|REF_RGD_ID:5134956 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:18398660|REF_RGD_ID:2300249 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489006|PMID:18509974 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18663571|REF_RGD_ID:2300119 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with breast neoplasm; PMID:19421193|REF_RGD_ID:5135498 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731006 D RGD:9068941 20200609 RGD associated with osteosarcoma; PMID:18797196|REF_RGD_ID:5135500 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731007 D RGD:9068941 20200609 RGD associated with lung neoplasm PMID:21238650|REF_RGD_ID:5135282 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000972 Fever ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21741371|REF_RGD_ID:5508203 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000972 Fever ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25164664 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21866634|REF_RGD_ID:5508191 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12410334|PMID:20810888|PMID:21549006 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:19719848|REF_RGD_ID:5688162 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001109 Anorexia treatment ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:22902858|REF_RGD_ID:13825124 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:16318954|REF_RGD_ID:5688289 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression: PMID:14871450|REF_RGD_ID:5688227 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression: PMID:14871450|REF_RGD_ID:5688227 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001472 Nasal Polyps ISO RGD:731006 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: PMID:16517580|REF_RGD_ID:5143924 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:16272346|REF_RGD_ID:5143925 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001542 Albuminuria ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17890881 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17565644|PMID:18555214 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001579 Neurogenic Inflammation ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17539917 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9001642 Intestinal Polyps ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10753194|PMID:11245490|PMID:11507063 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17112505|REF_RGD_ID:5688268 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21441310|REF_RGD_ID:5135032 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002211 Hyperalgesia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:15464832|REF_RGD_ID:5688224 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002211 Hyperalgesia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17112505|PMID:17989504 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002221 Hyperplasia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:17093206|PMID:22561872 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16314473 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney PMID:17272666|REF_RGD_ID:2308941 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12664575 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10753955|PMID:14754878|PMID:15126378|PMID:16506214|PMID:17609663 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD protein:altered localization PMID:18468781|REF_RGD_ID:2300123 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:731006 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:18242387|REF_RGD_ID:2300193 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18758904|REF_RGD_ID:2300221 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:synovium PMID:22289897|REF_RGD_ID:5687744 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:autopod joint PMID:21765105|REF_RGD_ID:5508310 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002589 Bone Fractures ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18795192|REF_RGD_ID:5135218 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002669 Hypoxia ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery PMID:19710084|REF_RGD_ID:5135519 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21385433|REF_RGD_ID:5508223 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:neuron, astrocyte, blood vessel PMID:21385433|REF_RGD_ID:5508223 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:14766256|REF_RGD_ID:2300209 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18171606|REF_RGD_ID:2298936 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:10229132|REF_RGD_ID:5688250 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, cerebellum, spinal cord PMID:21667309|REF_RGD_ID:5688149 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21268133|REF_RGD_ID:5135051 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189188|PMID:17667525|PMID:21081470 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix, epithelial cell PMID:18565574|REF_RGD_ID:2299119 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9003507 Premature Birth ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944|PMID:27748297 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9003613 Laryngeal Neoplasms severity ISO RGD:731006 D RGD:9068941 20200609 RGD protein:increased expression:larynx PMID:20429377|REF_RGD_ID:5135434 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:16247333|PMID:21944479|REF_RGD_ID:1580660|REF_RGD_ID:5508180 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:620349 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:21394482|REF_RGD_ID:5135045 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10588920|PMID:10594344|PMID:11567657|PMID:16386242|PMID:18258783|PMID:19673871 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004389 Bone Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489006 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004397 Calcification of Aortic Valve ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:25722432|REF_RGD_ID:13207434 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004397 Calcification of Aortic Valve disease_progression ISO RGD:731007 D RGD:9068941 20200609 RGD protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells PMID:25722432|REF_RGD_ID:13207434 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17499752|PMID:19748995|PMID:21159610 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387750 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004590 Acute Liver Failure ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18336855|REF_RGD_ID:2300286 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004590 Acute Liver Failure severity ISO RGD:731006 D RGD:9068941 20200609 RGD human gene in mouse model PMID:19017995|REF_RGD_ID:14695009 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19567182|REF_RGD_ID:5135496 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:20926798|REF_RGD_ID:5135287 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18542928|REF_RGD_ID:2300276 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18400268|REF_RGD_ID:2300126 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14566678 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18279516|REF_RGD_ID:2300130 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:21623034|REF_RGD_ID:5135030 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:18676768|REF_RGD_ID:2300118 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17701021|REF_RGD_ID:1642601 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:18435714|REF_RGD_ID:2300281 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:620349 D RGD:9068941 20200609 RGD associated with Ileus PMID:18266613|REF_RGD_ID:2300287 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11094054|PMID:11321505|PMID:19084589 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17701021|REF_RGD_ID:1642601 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18706904|REF_RGD_ID:2300222 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21521772|REF_RGD_ID:5135278 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:17720896|REF_RGD_ID:1642588 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14514642|PMID:21414306 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005873 Tongue Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248|PMID:22561872 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:21641970|REF_RGD_ID:5135029 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17883899|REF_RGD_ID:1642586 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:620349 D RGD:9068941 20200609 RGD protein:increased expression: PMID:12916703|REF_RGD_ID:5688236 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10698006 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007073 Cough ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:20696045|REF_RGD_ID:5135513 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007096 Stroke ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007096 Stroke ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:15138244|REF_RGD_ID:1581289 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007278 Anaphylaxis ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18480553|REF_RGD_ID:2300247 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007278 Anaphylaxis ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:17822719|REF_RGD_ID:1642600 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007284 Precocious Puberty ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21402727 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007346 Cachexia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17878525 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20051374|REF_RGD_ID:5135063 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12969226 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11743745 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007557 Laryngeal Papillomatosis ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:19736197|REF_RGD_ID:5135499 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18416056|REF_RGD_ID:2300125 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007730 Burns ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650120 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17660401|REF_RGD_ID:2300261 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9007980 Sleep Deprivation ISO RGD:731007 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18077435|REF_RGD_ID:6480426 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485483|PMID:11375891|PMID:12837940|PMID:15753380|PMID:19671906|PMID:20427397 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16127422|PMID:16870006|PMID:17285134|PMID:18498876|PMID:18509974 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:14605950|REF_RGD_ID:2300210 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:18612134|REF_RGD_ID:2300120 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:18334709|REF_RGD_ID:2300129 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9009039 Hyperemia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11820457 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17761345 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17675820|REF_RGD_ID:1642603 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11059772|PMID:15387324|PMID:17244951 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD PMID:23011828|REF_RGD_ID:7349348 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9206 Barrett's esophagus disease_progression ISO RGD:731006 D RGD:9068941 20200609 RGD mRNA: increased expression: Esophagus PMID:12105834|REF_RGD_ID:13207438 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9351 diabetes mellitus ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15885672 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9351 diabetes mellitus ISO RGD:731007 D RGD:9068941 20200609 RGD PMID:15885672|REF_RGD_ID:5143927 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:18706904|REF_RGD_ID:2300222 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9452 steatotic liver disease ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:21643627|REF_RGD_ID:5135028 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9655 oral mucosa leukoplakia ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18202791 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:20472710|REF_RGD_ID:4891488 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9743 diabetic neuropathy ISO RGD:620349 D RGD:9068941 20200609 RGD PMID:17720896|REF_RGD_ID:1642588 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9743 diabetic neuropathy ISO RGD:620349 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:peripheral nerve PMID:21951301|REF_RGD_ID:5508311 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9970 obesity ISO RGD:731006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21156398 8833910 Ptgs2 prostaglandin-endoperoxide synthase 2 gene DOID:9970 obesity ISO RGD:731007 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21978752|REF_RGD_ID:5508307 8833928 Maml3 mastermind like transcriptional coactivator 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1317803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8833928 Maml3 mastermind like transcriptional coactivator 3 gene DOID:0080799 sinonasal undifferentiated carcinoma ISO RGD:1317803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 8833928 Maml3 mastermind like transcriptional coactivator 3 gene DOID:1115 sarcoma ISO RGD:1317803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859338 8833928 Maml3 mastermind like transcriptional coactivator 3 gene DOID:1682 congenital heart disease ISO RGD:1317803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23708190 8833928 Maml3 mastermind like transcriptional coactivator 3 gene DOID:630 genetic disease ISO RGD:1317803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833944 Smndc1 survival motor neuron domain containing 1 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1319332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 8833944 Smndc1 survival motor neuron domain containing 1 gene DOID:630 genetic disease ISO RGD:1319332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833961 Dlx4 distal-less homeobox 4 gene DOID:0080408 orofacial cleft 15 ISO RGD:1318695 D RGD:7240710 20190315 OMIM 8833961 Dlx4 distal-less homeobox 4 gene DOID:0080408 orofacial cleft 15 ISO RGD:1318695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Orofacial cleft 15 PMID:25741868|PMID:25954033|PMID:28492532 8833961 Dlx4 distal-less homeobox 4 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1318695 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8833961 Dlx4 distal-less homeobox 4 gene DOID:630 genetic disease ISO RGD:1318695 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8833961 Dlx4 distal-less homeobox 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8833975 Ripply3 ripply transcriptional repressor 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1318761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8833975 Ripply3 ripply transcriptional repressor 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1318761 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8833975 Ripply3 ripply transcriptional repressor 3 gene DOID:1826 epilepsy ISO RGD:1318761 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8833975 Ripply3 ripply transcriptional repressor 3 gene DOID:630 genetic disease ISO RGD:1318761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833984 Nectin3 nectin cell adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1319897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8833984 Nectin3 nectin cell adhesion molecule 3 gene DOID:83 cataract ISO RGD:1319897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 8833984 Nectin3 nectin cell adhesion molecule 3 gene DOID:9002321 Teratozoospermia ISO RGD:1319897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28689229 8833996 Sox9 SRY-box transcription factor 9 gene DOID:0050463 campomelic dysplasia ISO RGD:1322513 D RGD:7240710 20180130 OMIM 8833996 Sox9 SRY-box transcription factor 9 gene DOID:0050463 campomelic dysplasia ISO RGD:1322513 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acampomelic campomelic dysplasia | ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Camptomelic dysplasia | ClinVar Annotator: match by term: SOX9-related condition PMID:10951468|PMID:11076045|PMID:11323423|PMID:11371614|PMID:12783851|PMID:12810722|PMID:15300742|PMID:15806394|PMID:16199547|PMID:17576681|PMID:1809232|PMID:19033726|PMID:19449405|PMID:19921652|PMID:20301724|PMID:20513132|PMID:21218044|PMID:21373255|PMID:21412441|PMID:21614988|PMID:23564514|PMID:24038782|PMID:24451061|PMID:25741868|PMID:25983619|PMID:26078652|PMID:26633542|PMID:26740947|PMID:27899157|PMID:28166811|PMID:28492532|PMID:29542186|PMID:31389106|PMID:32381727|PMID:32595695|PMID:34092239|PMID:7485151|PMID:7990924|PMID:8001137|PMID:8894698|PMID:9002675|PMID:9452058|PMID:9536098 8833996 Sox9 SRY-box transcription factor 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20868653 8833996 Sox9 SRY-box transcription factor 9 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19639023 8833996 Sox9 SRY-box transcription factor 9 gene DOID:0111763 46,XX sex reversal 2 ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XX sex reversal 2 PMID:21208124|PMID:22051515 8833996 Sox9 SRY-box transcription factor 9 gene DOID:0111775 46,XY sex reversal 10 ISO RGD:1322513 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 10 PMID:22051515|PMID:25604083|PMID:6620326 8833996 Sox9 SRY-box transcription factor 9 gene DOID:10283 prostate cancer ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8833996 Sox9 SRY-box transcription factor 9 gene DOID:1324 lung cancer ISO RGD:1322513 D RGD:9068941 20220407 RGD mRNA:increased expression:lung PMID:31221478|REF_RGD_ID:151665930 8833996 Sox9 SRY-box transcription factor 9 gene DOID:1324 lung cancer disease_progression ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:31221478|REF_RGD_ID:151665930 8833996 Sox9 SRY-box transcription factor 9 gene DOID:305 carcinoma ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8833996 Sox9 SRY-box transcription factor 9 gene DOID:3905 lung carcinoma exacerbates ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:31221478|REF_RGD_ID:151665930 8833996 Sox9 SRY-box transcription factor 9 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19234473 8833996 Sox9 SRY-box transcription factor 9 gene DOID:630 genetic disease ISO RGD:1322513 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446171|PMID:10951468|PMID:12161603|PMID:12783851|PMID:19033726|PMID:20513132|PMID:23551858|PMID:24038782|PMID:25741868|PMID:28492532|PMID:9066880 8833996 Sox9 SRY-box transcription factor 9 gene DOID:65 connective tissue disease ISO RGD:1322513 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15806394|PMID:1809232|PMID:20301724|PMID:25741868|PMID:28492532|PMID:8001137|PMID:9002675 8833996 Sox9 SRY-box transcription factor 9 gene DOID:9000217 Stomach Neoplasms ISO RGD:1322513 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36914835 8833996 Sox9 SRY-box transcription factor 9 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8833996 Sox9 SRY-box transcription factor 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322513 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 8833996 Sox9 SRY-box transcription factor 9 gene DOID:9002589 Bone Fractures ISO RGD:620474 D RGD:9068941 20200609 RGD PMID:21252473|REF_RGD_ID:11252151 8833996 Sox9 SRY-box transcription factor 9 gene DOID:9003184 Campomelic Dysplasia with Autosomal Sex Reversal ISO RGD:1322513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal PMID:11076045|PMID:11323423|PMID:12810722|PMID:15806394|PMID:1809232|PMID:20301724|PMID:21412441|PMID:25741868|PMID:26078652|PMID:26633542|PMID:28492532|PMID:31389106|PMID:34092239|PMID:7485151|PMID:7990924|PMID:8001137|PMID:8894698|PMID:9002675 8833996 Sox9 SRY-box transcription factor 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322513 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32682831 8833996 Sox9 SRY-box transcription factor 9 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19639023 8833996 Sox9 SRY-box transcription factor 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8833996 Sox9 SRY-box transcription factor 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8833996 Sox9 SRY-box transcription factor 9 gene DOID:9006314 Bent Bone Dysplasia Syndrome ISO RGD:1322513 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: Bent bone dysplasia PMID:25741868 8833996 Sox9 SRY-box transcription factor 9 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1322513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11807034 8833996 Sox9 SRY-box transcription factor 9 gene DOID:9256 colorectal cancer ISO RGD:1322513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:0050590 severe congenital neutropenia ISO RGD:10634 D RGD:9068941 20220825 MouseDO OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:0050748 marginal zone lymphoma disease_progression ISO RGD:10634 D RGD:9068941 20200609 RGD PMID:15231650|REF_RGD_ID:1581305 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:0050908 myelodysplastic syndrome ISO RGD:733642 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow: PMID:18371060|REF_RGD_ID:11040459 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:0070004 myeloid neoplasm ISO RGD:10634 D RGD:9068941 20200609 RGD PMID:22932805|REF_RGD_ID:11040453 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:733642 D RGD:7240710 20180130 OMIM 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:733642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:11807637|PMID:12778173|PMID:17576681|PMID:20560965|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:1227 neutropenia ISO RGD:10634 D RGD:9068941 20200609 RGD PMID:11810106|REF_RGD_ID:11040449 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:1227 neutropenia ISO RGD:10634 D RGD:9068941 20200609 RGD DNA:mutation:exon: PMID:22684987|REF_RGD_ID:11040456 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:1240 leukemia ISO RGD:733642 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow mononuclear cell: PMID:20723283|REF_RGD_ID:11040452 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:630 genetic disease ISO RGD:733642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:8692 myeloid leukemia ISO RGD:10634 D RGD:9068941 20200609 RGD PMID:21732494|REF_RGD_ID:11040451 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:733642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16122429 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9002867 Myeloid Leukemia, Chronic-Phase ISO RGD:733642 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mononuclea cell, CD34+ cell PMID:19887785|REF_RGD_ID:11040457 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9002867 Myeloid Leukemia, Chronic-Phase disease_progression ISO RGD:733642 D RGD:9068941 20200609 RGD PMID:23411466|REF_RGD_ID:11040461 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:733642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9006946 Nonimmune Chronic Idiopathic Neutropenia, Adult ISO RGD:733642 D RGD:7240710 20180130 OMIM 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9006946 Nonimmune Chronic Idiopathic Neutropenia, Adult ISO RGD:733642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults PMID:11807637|PMID:12778173|PMID:25741868|PMID:28492532 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9119 acute myeloid leukemia ISO RGD:733642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8834028 Gfi1 growth factor independent 1 transcriptional repressor gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:733642 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.107G>A(rs34631763)(human) PMID:20075157|REF_RGD_ID:11040450 8834040 Baalc BAALC binder of MAP3K1 and KLF4 gene DOID:0111590 Cohen syndrome ISO RGD:736795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8834040 Baalc BAALC binder of MAP3K1 and KLF4 gene DOID:630 genetic disease ISO RGD:736795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834040 Baalc BAALC binder of MAP3K1 and KLF4 gene DOID:9119 acute myeloid leukemia ISO RGD:736795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822134 8834059 Rep15 RAB15 effector protein gene DOID:630 genetic disease ISO RGD:2306721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834064 Tlx2 T cell leukemia homeobox 2 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1320082 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8834064 Tlx2 T cell leukemia homeobox 2 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1320083 D RGD:9068941 20220825 MouseDO OMIM:243180 | OMIM:601223 8834064 Tlx2 T cell leukemia homeobox 2 gene DOID:543 dystonia ISO RGD:1320082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8834064 Tlx2 T cell leukemia homeobox 2 gene DOID:630 genetic disease ISO RGD:1320082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834064 Tlx2 T cell leukemia homeobox 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1320082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8834072 Pdgfd platelet derived growth factor D gene DOID:0080600 COVID-19 ISO RGD:1604286 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8834072 Pdgfd platelet derived growth factor D gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1604286 D RGD:9068941 20200609 RGD PMID:21098708|REF_RGD_ID:13506773 8834072 Pdgfd platelet derived growth factor D gene DOID:1059 intellectual disability ISO RGD:1604286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8834072 Pdgfd platelet derived growth factor D gene DOID:11132 prostatic hypertrophy disease_progression ISO RGD:1604286 D RGD:9068941 20200609 RGD PMID:22689130|REF_RGD_ID:13506770 8834072 Pdgfd platelet derived growth factor D gene DOID:12704 ataxia telangiectasia ISO RGD:1604286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8834072 Pdgfd platelet derived growth factor D gene DOID:1936 atherosclerosis ISO RGD:1604286 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 8834072 Pdgfd platelet derived growth factor D gene DOID:2921 glomerulonephritis ISO RGD:621880 D RGD:9068941 20200609 RGD PMID:21866094|REF_RGD_ID:9854633 8834072 Pdgfd platelet derived growth factor D gene DOID:3393 coronary artery disease ISO RGD:1604286 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:21378988|PMID:34961328 8834072 Pdgfd platelet derived growth factor D gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:621880 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:glomerulus,serum: PMID:12937299|REF_RGD_ID:9854637 8834072 Pdgfd platelet derived growth factor D gene DOID:4783 mesangial proliferative glomerulonephritis treatment ISO RGD:621880 D RGD:9068941 20200609 RGD PMID:17308324|REF_RGD_ID:9854629 8834072 Pdgfd platelet derived growth factor D gene DOID:5082 liver cirrhosis ISO RGD:621880 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:17397961|REF_RGD_ID:9854631 8834072 Pdgfd platelet derived growth factor D gene DOID:5426 primary ovarian insufficiency ISO RGD:1604286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8834072 Pdgfd platelet derived growth factor D gene DOID:5844 myocardial infarction ISO RGD:621880 D RGD:9068941 20200609 RGD mRNA,protein:altered expression:myocardium: PMID:21767547|REF_RGD_ID:9854703 8834072 Pdgfd platelet derived growth factor D gene DOID:630 genetic disease ISO RGD:1604286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834072 Pdgfd platelet derived growth factor D gene DOID:9000310 Lung Injury ISO RGD:1604286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25280005 8834072 Pdgfd platelet derived growth factor D gene DOID:9000612 Cardiac Allograft Vasculopathy ISO RGD:1604286 D RGD:9068941 20200609 RGD PMID:19213942|REF_RGD_ID:9854642 8834072 Pdgfd platelet derived growth factor D gene DOID:9000784 Fibrosis ISO RGD:1604286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25280005 8834072 Pdgfd platelet derived growth factor D gene DOID:9004283 Transplant Rejection ISO RGD:621880 D RGD:9068941 20200609 RGD PMID:19213942|REF_RGD_ID:9854642 8834072 Pdgfd platelet derived growth factor D gene DOID:9005396 Intimal Hyperplasia ISO RGD:621880 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell: PMID:15752751|REF_RGD_ID:9854640 8834072 Pdgfd platelet derived growth factor D gene DOID:9006182 Carotid Artery Injuries ISO RGD:621880 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery: PMID:18258854|REF_RGD_ID:9854624 8834072 Pdgfd platelet derived growth factor D gene DOID:9007482 Bone Metastasis ISO RGD:1604286 D RGD:9068941 20200609 RGD associated with prostate carcinoma PMID:22158043|REF_RGD_ID:13506772 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:737219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:0060058 lymphoma ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:17609424|REF_RGD_ID:6483350 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:0060916 proteosome-associated autoinflammatory syndrome 3 ISO RGD:737219 D RGD:7240710 20190315 OMIM 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:0080199 colorectal carcinoma ISO RGD:737219 D RGD:9068941 20200609 RGD protein: decreased expression PMID:14750179|REF_RGD_ID:6483362 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:10316 pneumoconiosis ISO RGD:737219 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:22363101|REF_RGD_ID:6483444 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:12306 vitiligo ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:14551602|REF_RGD_ID:1578358 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:12858 Huntington's disease ISO RGD:11180 D RGD:9068941 20200609 RGD PMID:14684867|REF_RGD_ID:6483364 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:12858 Huntington's disease ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:14684867|REF_RGD_ID:6483364 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:13976 peptic esophagitis ISO RGD:3427 D RGD:9068941 20200609 RGD protein:decreased expression:esophageal epithelium (rat) PMID:23942904|REF_RGD_ID:9854630 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:1459 hypothyroidism ISO RGD:11180 D RGD:9068941 20200609 RGD PMID:19924240|REF_RGD_ID:6483332 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:2377 multiple sclerosis ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:20174631|REF_RGD_ID:6483446 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:2722 acrodermatitis ISO RGD:737219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:3459 breast carcinoma ISO RGD:3427 D RGD:9068941 20200609 RGD protein:altered expression:tumor (rat) PMID:21889127|REF_RGD_ID:9854639 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:19492245|REF_RGD_ID:6482249 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:4450 renal cell carcinoma ISO RGD:737219 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-151G>T (human) PMID:11788900|REF_RGD_ID:9999148 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:630 genetic disease ISO RGD:737219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:7147 ankylosing spondylitis ISO RGD:737219 D RGD:9068941 20200609 RGD DNA: snp: rs17587 PMID:22034108|REF_RGD_ID:6483349 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:7188 autoimmune thyroiditis ISO RGD:737219 D RGD:9068941 20200609 RGD DNA:missense mutation: cds: Arg60His PMID:12189117|REF_RGD_ID:6483439 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:19924240|REF_RGD_ID:6483332 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:8893 psoriasis ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:17581627|REF_RGD_ID:6482263 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:9000380 Spondylarthritis ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:15603870|REF_RGD_ID:6483462 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:9000380 Spondylarthritis no_association ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:9496154|REF_RGD_ID:6483495 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:9004268 Uterine Neoplasms ISO RGD:11180 D RGD:9068941 20200609 RGD PMID:11782352|REF_RGD_ID:6483440 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:9004283 Transplant Rejection severity ISO RGD:3427 D RGD:9068941 20200609 RGD protein:increased expression:liver, kidney (rat) PMID:22834313|REF_RGD_ID:9854627 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3427 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:20968039|REF_RGD_ID:9850284 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:9007355 Hashimoto Disease ISO RGD:737219 D RGD:9068941 20200609 RGD PMID:19924240|REF_RGD_ID:6483332 8834093 Psmb9 proteasome 20S subunit beta 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:11180 D RGD:9068941 20200609 RGD PMID:11717249|REF_RGD_ID:6483441 8834109 Pfkm phosphofructokinase, muscle gene DOID:0081241 peroxisome biogenesis disorder 3B ISO RGD:68621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b PMID:9792857 8834109 Pfkm phosphofructokinase, muscle gene DOID:11721 glycogen storage disease VII ISO RGD:68621 D RGD:7240710 20180130 OMIM 8834109 Pfkm phosphofructokinase, muscle gene DOID:11721 glycogen storage disease VII ISO RGD:68621 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VII PMID:14339001|PMID:16199547|PMID:17576681|PMID:1833270|PMID:2140573|PMID:22133655|PMID:22364848|PMID:22995305|PMID:24011984|PMID:24033266|PMID:25741868|PMID:27066546|PMID:28492532|PMID:28779239|PMID:7479776|PMID:7513946|PMID:7603526|PMID:7825568|PMID:8037209|PMID:8444874|PMID:8659544|PMID:8880699|PMID:8889589|PMID:9389749|PMID:9443500|PMID:9536098 8834109 Pfkm phosphofructokinase, muscle gene DOID:2747 glycogen storage disease ISO RGD:68621 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:24033266|PMID:25741868|PMID:28492532|PMID:7825568|PMID:8037209|PMID:8880699|PMID:9389749 8834109 Pfkm phosphofructokinase, muscle gene DOID:2750 glycogen storage disease IV ISO RGD:68621 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:30792690 8834109 Pfkm phosphofructokinase, muscle gene DOID:630 genetic disease ISO RGD:68621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8834109 Pfkm phosphofructokinase, muscle gene DOID:9000884 Rhabdomyolysis ISO RGD:68621 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:24033266|PMID:25741868|PMID:28492532|PMID:28779239|PMID:8037209|PMID:8444874|PMID:8880699|PMID:9389749 8834109 Pfkm phosphofructokinase, muscle gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 8834109 Pfkm phosphofructokinase, muscle gene DOID:9007102 Myocardial Ischemia ISO RGD:68621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8834147 Frs2 fibroblast growth factor receptor substrate 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1317842 D RGD:9068941 20200609 RGD PMID:25900027|REF_RGD_ID:11352663 8834147 Frs2 fibroblast growth factor receptor substrate 2 gene DOID:630 genetic disease ISO RGD:1317842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834159 Liat1 ligand of ATE1 gene DOID:630 genetic disease ISO RGD:1606638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834197 Slc17a3 solute carrier family 17 member 3 gene DOID:13189 gout ISO RGD:1344101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 4 PMID:20810651 8834197 Slc17a3 solute carrier family 17 member 3 gene DOID:13189 gout susceptibility ISO RGD:1344101 D RGD:7240710 20240320 OMIM 8834197 Slc17a3 solute carrier family 17 member 3 gene DOID:630 genetic disease ISO RGD:1344101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:732179 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type PMID:15181170|PMID:15351195|PMID:16401742|PMID:19578034|PMID:19752458|PMID:21880868|PMID:22647225|PMID:23426270|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:25193669|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29029963|PMID:29997391|PMID:30255931|PMID:30373890|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33513296|PMID:33683010 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0050700 cardiomyopathy ISO RGD:732179 D RGD:9068941 20200609 RGD PMID:17310215|REF_RGD_ID:8694182 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0050753 cerebellar ataxia ISO RGD:732179 D RGD:9068941 20200609 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds: PMID:20803511|REF_RGD_ID:8694192 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:732179 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary progressive multiple sclerosis PMID:16401742|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28480171|PMID:28492532|PMID:32504279 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0050908 myelodysplastic syndrome ISO RGD:732180 D RGD:9068941 20220825 MouseDO OMIM:614286 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0060898 Parkinson's disease 20 ISO RGD:732179 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:18414213|PMID:21357833|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28337550|PMID:28492532|PMID:28776642|PMID:32391929|PMID:34426522|PMID:36325100 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:732179 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:11431686|PMID:11897778|PMID:12210792|PMID:12707443|PMID:12872260|PMID:14467368|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:15689359|PMID:15929042|PMID:16177225|PMID:16401742|PMID:16595552|PMID:16634032|PMID:16940310|PMID:17310215|PMID:17426723|PMID:17725985|PMID:17980715|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546365|PMID:18828154|PMID:19307547|PMID:19478085|PMID:19752458|PMID:20185557|PMID:20301791|PMID:20513108|PMID:2067633|PMID:20818383|PMID:21228000|PMID:21301859|PMID:21305355|PMID:21670405|PMID:21696159|PMID:21880868|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22616202|PMID:23448099|PMID:23545419|PMID:24033266|PMID:24265579|PMID:24272679|PMID:24398692|PMID:24508722|PMID:24642831|PMID:25203713|PMID:25281868|PMID:25340760|PMID:25585994|PMID:25741868|PMID:26077851|PMID:26095671|PMID:26224072|PMID:26467025|PMID:26554610|PMID:27185166|PMID:2725645|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28130605|PMID:28337550|PMID:28430993|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28812649|PMID:29474836|PMID:30451971|PMID:30609409|PMID:31147703|PMID:31521625|PMID:32161153|PMID:32504279|PMID:33258288|PMID:33671400|PMID:33791913|PMID:34690748|PMID:34782754|PMID:35114397|PMID:35760101 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15689448|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:19881469|PMID:20138553|PMID:20142534|PMID:20301515|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21943391|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:31085725|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35350396|PMID:35861376|PMID:36325100|PMID:36703223|PMID:37184518|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:7240710 20181219 OMIM 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27381400|PMID:27422324|PMID:27450679 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30818899|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:31996268|PMID:32019516|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32502631|PMID:32600829|PMID:32703289|PMID:33258288|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34194468|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9500334|PMID:9536098 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32600829|PMID:32703289|PMID:32964447|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370|PMID:9536098 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22805437|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Alpers Syndrome | ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:26968897|PMID:27016405|PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31209396|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31571979|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32347949|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32600829|PMID:32703289|PMID:32964447|PMID:33046616|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34194468|PMID:34690748|PMID:34782754|PMID:35101151|PMID:35289132|PMID:35307828|PMID:35641312|PMID:35811324|PMID:632821|PMID:7847370|PMID:9536098 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:11301032|PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15689448|PMID:15800909|PMID:1582434|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16682683|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16919951|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17067213|PMID:17088268|PMID:17280874|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17538929|PMID:17576681|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17923349|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19275594|PMID:19307547|PMID:19344718|PMID:19364868|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19837034|PMID:19862739|PMID:19881469|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301515|PMID:20301791|PMID:20385918|PMID:20400524|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21447491|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21704543|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21943391|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22334187|PMID:22342071|PMID:22357363|PMID:22377773|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22552686|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22805437|PMID:22863191|PMID:22931735|PMID:22933815|PMID:22980518|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23665194|PMID:23719791|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23830586|PMID:23836942|PMID:23873972|PMID:23921535|PMID:2392416|PMID:24033266|PMID:24086434|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24194468|PMID:24259288|PMID:24265579|PMID:24266892|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25118206|PMID:25129007|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25412673|PMID:25429852|PMID:25462018|PMID:25466440|PMID:25488682|PMID:25497598|PMID:25525159|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25724872|PMID:25741868|PMID:25742477|PMID:25771874|PMID:25850945|PMID:25852747|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4a | ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive | ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:26467025|PMID:26468652|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26640698|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27101133|PMID:27111573|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27349602|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27475922|PMID:27527004|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27917773|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28815208|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29214156|PMID:29272804|PMID:29278894|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29644085|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29915382|PMID:29920680|PMID:29950568|PMID:29992832|PMID:29997391|PMID:30009132|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30385167|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30552426|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30838265|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31075681|PMID:31085725|PMID:31130284|PMID:31147703|PMID:31164858|PMID:31209396|PMID:31359948|PMID:31425757|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31731261|PMID:31762033|PMID:31980526|PMID:31996268|PMID:32005694|PMID:32019516|PMID:32042919|PMID:32161153|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32347949|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32531456|PMID:32567010|PMID:32600829|PMID:32613234|PMID:32703289|PMID:32964447|PMID:33046616|PMID:33233646|PMID:33258288|PMID:33278787|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33683010|PMID:33726816|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34189666|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34690748|PMID:34777884|PMID:34782754|PMID:34927673|PMID:35101151|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35307828|PMID:35350396|PMID:35478072|PMID:35488641|PMID:35598585|PMID:35641312|PMID:35699875|PMID:35760101|PMID:35799515|PMID:35811324|PMID:35861376|PMID:36065636|PMID:36325100|PMID:36332611|PMID:36689859|PMID:36703223|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370|PMID:9536098 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome susceptibility ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P1073L (3218C>T) (human) PMID:20142534|REF_RGD_ID:15039298 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome susceptibility ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P1073L (3218C>T) (human) PMID:20142534|REF_RGD_ID:15039298 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080122 Alpers-Huttenlocher syndrome susceptibility ISO RGD:732180 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P1073L (3218C>T) (human) PMID:20142534|REF_RGD_ID:15039298 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:732179 D RGD:7240710 20180130 OMIM 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:732179 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15689448|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19881469|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301515|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:20883824|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21301859|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21943391|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22277967|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25852747|PMID:25914719|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27917773|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28958595|PMID:29029963|PMID:29214156|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30634555|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31589614|PMID:31645654|PMID:31655921 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080123 mitochondrial DNA depletion syndrome 4B ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31980526|PMID:32005694|PMID:32042919|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32347949|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32567010|PMID:32613234|PMID:33233646|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33683010|PMID:33726816|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34690748|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35307828|PMID:35350396|PMID:35598585|PMID:35699875|PMID:35799515|PMID:35861376|PMID:36325100|PMID:36332611|PMID:36703223|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: mitochondrial hepatopathy PMID:25741868 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16621917|PMID:16638794|PMID:16639411|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21880868|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29474836|PMID:29482223|PMID:29588995|PMID:30255931|PMID:30290626|PMID:30373890|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15689448|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:19881469|PMID:20138553|PMID:20142534|PMID:20301515|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21943391|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:31085725|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35350396|PMID:35861376|PMID:36325100|PMID:36703223|PMID:37184518|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0080855 Parkinsonism ISO RGD:732179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111091 Fanconi anemia complementation group I ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group I PMID:18414213|PMID:22778927|PMID:23524600|PMID:25741868|PMID:26467025|PMID:27987238|PMID:28492532|PMID:28678401 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:7240710 20180130 OMIM 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32567010|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15689448|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17502560|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19881469|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301515|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21943391|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29302508|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29920680|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33683010 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35307828|PMID:35350396|PMID:35699875|PMID:35799515|PMID:35861376|PMID:36325100|PMID:36332611|PMID:36703223|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:7240710 20180130 OMIM 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:11431686|PMID:11571332|PMID:11897778|PMID:12073019|PMID:12210792|PMID:12565911|PMID:12872260|PMID:14467368|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15689448|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17310215|PMID:17420318|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17725985|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19881469|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301515|PMID:20301791|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21943391|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23545419|PMID:23783014|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24398692|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:25850945|PMID:25914719|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26357557|PMID:26467025|PMID:26554610|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28206745|PMID:28337550|PMID:28430993|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29920680|PMID:29992832|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:31085725|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32161153|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:33233646|PMID:33469851|PMID:33473333|PMID:33486010 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:33513296|PMID:33600046|PMID:33683010|PMID:33726816|PMID:34052969|PMID:34062649|PMID:34426522|PMID:34670123|PMID:34690748|PMID:34782754|PMID:35114397|PMID:35186329|PMID:35307828|PMID:35699875|PMID:35760101|PMID:35799515|PMID:35861376|PMID:36325100|PMID:36332611|PMID:36703223|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:7240710 20191127 OMIM 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15689448|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16919951|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18414213|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19881469|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20227526|PMID:20301515|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21943391|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22189570|PMID:22334187|PMID:22342071|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25914719|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31762033|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:33046616|PMID:33233646|PMID:33258288|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35186329|PMID:35307828|PMID:35350396|PMID:35699875|PMID:35799515|PMID:35861376|PMID:36325100|PMID:36332611|PMID:36703223|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:732179 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:14745080|PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17426723|PMID:17538929|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18487244|PMID:18546365|PMID:18716558|PMID:19103152|PMID:19195941|PMID:19251978|PMID:19478085|PMID:19578034|PMID:19752458|PMID:19862739|PMID:20185557|PMID:20818383|PMID:21259344|PMID:21654874|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22000311|PMID:22494076|PMID:22647225|PMID:23084792|PMID:23299917|PMID:23426270|PMID:23430834|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:27538665|PMID:28130605|PMID:28492532|PMID:29029963|PMID:29474836|PMID:30167885|PMID:30255931|PMID:30373890|PMID:30818899|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33486010 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:732179 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:14745080|PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17426723|PMID:17538929|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18487244|PMID:18546365|PMID:18716558|PMID:19103152|PMID:19195941|PMID:19251978|PMID:19478085|PMID:19578034|PMID:19752458|PMID:19862739|PMID:20185557|PMID:20220442|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21654874|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22000311|PMID:22084276|PMID:22494076|PMID:22647225|PMID:23084792|PMID:23299917|PMID:23426270|PMID:23430834|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:27538665|PMID:28130605|PMID:28480171|PMID:28492532|PMID:28865037|PMID:29029963|PMID:29474836|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30373890|PMID:30818899|PMID:31085725|PMID:31658717|PMID:31669236|PMID:32234506|PMID:32305867|PMID:32445240|PMID:32504279|PMID:32964447|PMID:33233646|PMID:33486010|PMID:33513296|PMID:33683010|PMID:34052969|PMID:34670123|PMID:37184518 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:10787 premature menopause ISO RGD:732179 D RGD:9068941 20200609 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: : PMID:15351195|REF_RGD_ID:8694175 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:10907 microcephaly ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:11832 visual epilepsy ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30255931|PMID:30373890|PMID:30404819|PMID:30637288|PMID:30843307|PMID:30951992|PMID:31571979|PMID:31655921|PMID:31658717|PMID:31669236|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732179 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33579567|PMID:33956154|PMID:34008892|PMID:34194468|PMID:34927673|PMID:35350396|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:12336 male infertility ISO RGD:732179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923349 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human) PMID:12565911|REF_RGD_ID:8694170 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:12975295|PMID:16401742|REF_RGD_ID:8694163|REF_RGD_ID:8694183 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human) PMID:17420318|REF_RGD_ID:8694204 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human) PMID:11431686|REF_RGD_ID:737726 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:18156159|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:12849 autistic disorder ISO RGD:732179 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:18156159|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29913018|PMID:31521625|PMID:33600046 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:13636 Fanconi anemia ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22720145|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1389 polyneuropathy ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:14264 benign neonatal seizures ISO RGD:732179 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: neonatal seizures PMID:14635118|PMID:16919951|PMID:20185557|PMID:21357833|PMID:21550804|PMID:21880868|PMID:25741868|PMID:28471437|PMID:28492532 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:14330 Parkinson's disease ISO RGD:732179 D RGD:9068941 20200609 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutation:cds:p.K512M(human) PMID:23865558|REF_RGD_ID:8694203 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:14330 Parkinson's disease ISO RGD:732179 D RGD:9068941 20200609 RGD associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations: : PMID:15351195|REF_RGD_ID:8694175 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:14330 Parkinson's disease onset ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.R853W,p.G737R(human) PMID:16634032|REF_RGD_ID:8694201 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1824 status epilepticus ISO RGD:620057 D RGD:9068941 20200609 RGD PMID:18295498|REF_RGD_ID:2317139 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure Disorders | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:35307828|PMID:632821 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34782754 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:35307828|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:24841123|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27345795|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29992832|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30951992|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32019516|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33726816 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:34008892|PMID:34690748|PMID:34782754|PMID:35307828|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17538929|PMID:18156159|PMID:18716558|PMID:19195941|PMID:19578034|PMID:19752458|PMID:20220442|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:22647225|PMID:23426270|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28865037|PMID:29029963|PMID:29913018|PMID:29997391|PMID:30255931|PMID:30373890|PMID:31521625|PMID:31571979|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33600046 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:1826 epilepsy ISO RGD:732179 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Seizure PMID:15181170|PMID:15351195|PMID:16401742|PMID:16545482|PMID:17538929|PMID:18156159|PMID:18716558|PMID:19195941|PMID:19578034|PMID:19752458|PMID:20220442|PMID:21670405|PMID:21824913|PMID:21880868|PMID:21953457|PMID:22084276|PMID:22647225|PMID:23426270|PMID:23811324|PMID:24122062|PMID:24259288|PMID:24331360|PMID:24508722|PMID:24642831|PMID:25193669|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28865037|PMID:29029963|PMID:29913018|PMID:29997391|PMID:30255931|PMID:30373890|PMID:31521625|PMID:31658717|PMID:31669236|PMID:32234506|PMID:33513296|PMID:33600046|PMID:33683010 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:2377 multiple sclerosis ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:20837861|REF_RGD_ID:8694283 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33473333|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32502631|PMID:33473333|PMID:33486010|PMID:33726816|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32445240|PMID:32502631|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16385454|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30951992|PMID:31085725|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32234506|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33671400|PMID:33726816|PMID:33791913|PMID:34008892|PMID:34690748|PMID:34782754|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:2476 hereditary spastic paraplegia ISO RGD:732179 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15689448|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195151|PMID:18414213|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19881469|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20176107|PMID:20227526|PMID:20301515|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21943391|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22114710|PMID:22189570|PMID:22237560|PMID:22342071|PMID:22357363|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25203713|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25852747|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27422324|PMID:27538604|PMID:27917773|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29214156|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29588995|PMID:29655203|PMID:29992832|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30843307|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31589614|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31980526|PMID:32165824|PMID:32234506|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33671400|PMID:33683010|PMID:33726816|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34690748|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35350396|PMID:35478072|PMID:35598585|PMID:35699875|PMID:35799515|PMID:36325100|PMID:36332611|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:2717 Bloom syndrome ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:3324 mood disorder ISO RGD:732180 D RGD:9068941 20200609 RGD PMID:16619054|REF_RGD_ID:8694301 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:3687 MELAS syndrome ISO RGD:732179 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: MELAS syndrome PMID:17436221|PMID:18546365|PMID:19010300|PMID:19364868|PMID:19762913|PMID:19887119|PMID:20176107|PMID:21550804|PMID:21880868|PMID:22189570|PMID:22357363|PMID:23250882|PMID:23419467|PMID:24091540|PMID:25462018|PMID:25741868|PMID:25852747|PMID:26467025|PMID:27917773|PMID:28492532|PMID:28756246|PMID:28958595|PMID:29214156|PMID:29992832|PMID:30941926|PMID:30951992|PMID:31655921|PMID:31665838|PMID:32165824|PMID:32348839|PMID:32502631|PMID:34690748|PMID:35598585 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:5426 primary ovarian insufficiency ISO RGD:732179 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:14635118|PMID:25741868|PMID:27987238 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:630 genetic disease ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11431686|PMID:11555352|PMID:11571332|PMID:12073019|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15534189|PMID:15689359|PMID:15689448|PMID:15800909|PMID:15824347|PMID:15913923|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16199547|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16715201|PMID:16857757|PMID:16896309|PMID:16929381|PMID:16940310|PMID:16943369|PMID:16957900|PMID:17088268|PMID:17280874|PMID:17418573|PMID:17426723|PMID:17436221|PMID:17438011|PMID:17452231|PMID:17538929|PMID:17576681|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19195941|PMID:19251978|PMID:19307547|PMID:19364868|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19762913|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19881469|PMID:19887119|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20176107|PMID:20185557|PMID:20220442|PMID:20227526|PMID:20301515|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:20883824|PMID:20981092|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21301859|PMID:21305355|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21550804|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21943391|PMID:21953457|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22084276|PMID:22114710|PMID:22166854|PMID:22189570|PMID:22215559|PMID:22237560|PMID:22277967|PMID:22342071|PMID:22357363|PMID:22470557|PMID:22494076|PMID:22537151|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22778364|PMID:22931735|PMID:22933815|PMID:22987704|PMID:22995991|PMID:23066759|PMID:23077218|PMID:23084792|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23419467|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23448099|PMID:23545419|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23873972|PMID:23921535|PMID:24033266|PMID:24091540|PMID:24099403|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25129007|PMID:25193669|PMID:25203713|PMID:25281868|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25488682|PMID:25497598|PMID:25585994|PMID:25638290|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25852747|PMID:25914719|PMID:25940035|PMID:26050231|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:26968897|PMID:27016405|PMID:27101133|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27826120|PMID:27838477|PMID:27843123|PMID:27917773|PMID:27987238|PMID:28074849|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28756246|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:28901595|PMID:28958595|PMID:29029963|PMID:29190809|PMID:29214156|PMID:29272804|PMID:29341116 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:630 genetic disease ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29920680|PMID:29992832|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30451971|PMID:30487145|PMID:30609409|PMID:30637288|PMID:30678510|PMID:30755392|PMID:30818899|PMID:30831263|PMID:30843307|PMID:30860128|PMID:30936349|PMID:30941926|PMID:30951992|PMID:31085725|PMID:31164858|PMID:31209396|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31613174|PMID:31645654|PMID:31655921|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31694722|PMID:31980526|PMID:32019516|PMID:32161153|PMID:32165824|PMID:32234506|PMID:32305867|PMID:32347949|PMID:32348839|PMID:32391929|PMID:32445240|PMID:32502631|PMID:32504279|PMID:32567010|PMID:32613234|PMID:32964447|PMID:33233646|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33671400|PMID:33683010|PMID:33726816|PMID:33791913|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34690748|PMID:34777884|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35186329|PMID:35289132|PMID:35307828|PMID:35350396|PMID:35488641|PMID:35598585|PMID:35699875|PMID:35799515|PMID:36325100|PMID:36332611|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370|PMID:9536098 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs1061316, rs758130) (human) PMID:28457473|REF_RGD_ID:15039387 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs1061316, rs758130) (human) PMID:28457473|REF_RGD_ID:15039387 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732180 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs1061316, rs758130) (human) PMID:28457473|REF_RGD_ID:15039387 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:700 mitochondrial metabolism disease ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Abnormality of the mitochondrion | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder PMID:11431686|PMID:11555352|PMID:11571332|PMID:11897778|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14467368|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15181170|PMID:15258572|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15689448|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16595552|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:16957900|PMID:17088268|PMID:17310215|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17576681|PMID:17725985|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18446447|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19500334|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19881469|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301515|PMID:20301791|PMID:20385918|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:2067633|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21305355|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21670405|PMID:21686371|PMID:21696159|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21943391|PMID:21956653|PMID:21993618|PMID:22000311|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22470557|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23208208|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23324391|PMID:23430834|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23836942|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24398692|PMID:24508722|PMID:24725338|PMID:25025039|PMID:25281868|PMID:25286830|PMID:25340760|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26554610|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27111573|PMID:27185166|PMID:2725645|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27538604|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28430993|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30678510|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31147703|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31980526|PMID:32161153|PMID:32567010|PMID:33396418|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33579567|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34062649|PMID:34194468|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35350396|PMID:35699875|PMID:35760101|PMID:35799515|PMID:36332611|PMID:36987741|PMID:37189790|PMID:632821|PMID:7847370|PMID:9536098 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:8725 vascular dementia ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:25741868|PMID:25850945|PMID:26467025|PMID:28492532|PMID:35307828 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:890 mitochondrial encephalomyopathy ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.N846S, p.P587L(human) PMID:12825077|REF_RGD_ID:8694177 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9000307 Presbycusis ISO RGD:732180 D RGD:9068941 20200609 RGD PMID:21664445|REF_RGD_ID:8694161 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15689448|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18414213|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19862739|PMID:19881469|PMID:20138553|PMID:20142534|PMID:20301515|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21880868|PMID:21943391|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22863191|PMID:22931735|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27119776|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30423451|PMID:30487145|PMID:30818899|PMID:30936349|PMID:31085725|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35350396|PMID:35861376|PMID:36325100|PMID:36703223|PMID:37184518|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:732179 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spinocerebellar atrophy PMID:17436221|PMID:18546365|PMID:19010300|PMID:19364868|PMID:19762913|PMID:19887119|PMID:20176107|PMID:21880868|PMID:23250882|PMID:23419467|PMID:24091540|PMID:25462018|PMID:25741868|PMID:25852747|PMID:26467025|PMID:27917773|PMID:28492532|PMID:28756246|PMID:28958595|PMID:29214156|PMID:29992832|PMID:30941926|PMID:30951992|PMID:31655921|PMID:31665838|PMID:32165824|PMID:32348839|PMID:32502631|PMID:34690748|PMID:35598585 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9002375 Childhood Myocerebrohepatopathy Spectrum ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Childhood myocerebrohepatopathy spectrum PMID:12707443|PMID:16621917|PMID:18487244|PMID:18546365|PMID:19752458|PMID:20185557|PMID:21305355|PMID:21880868|PMID:22189570|PMID:23208208|PMID:24265579|PMID:25741868|PMID:27111573|PMID:28471437|PMID:28492532|PMID:30021052|PMID:30167885 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9002644 Premature Aging ISO RGD:732180 D RGD:9068941 20200609 RGD PMID:15164064|REF_RGD_ID:8694320 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9003108 CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15689448|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17950645|PMID:17980715|PMID:18195149|PMID:18195151|PMID:18414213|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19881469|PMID:20138553|PMID:20142534|PMID:20185557|PMID:20227526|PMID:20301515|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20701905|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21943391|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22189570|PMID:22334187|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26095671|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26735972|PMID:26742794|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27381400|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28492532|PMID:28771251|PMID:28776642|PMID:28812649|PMID:29029963|PMID:29341116|PMID:29358615|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29588995|PMID:29655203|PMID:29997391|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30936349|PMID:31085725|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31665838|PMID:31669236|PMID:31762033|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:33046616|PMID:33233646|PMID:33396418|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969|PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35307828|PMID:35350396|PMID:35699875|PMID:35799515|PMID:35861376|PMID:36325100|PMID:36332611|PMID:36703223|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9004493 Camptocormia ISO RGD:732179 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bent Spine Syndrome PMID:16621917|PMID:17452231|PMID:18546365|PMID:19189930|PMID:19578034|PMID:19752458|PMID:19815814|PMID:20227526|PMID:20301791|PMID:20803511|PMID:21856450|PMID:21880868|PMID:22647225|PMID:22727047|PMID:23808377|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27271921|PMID:28130605|PMID:28492532 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9004866 Ataxia ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A467T,p.Q497H,p.W748S(human) PMID:15824347|REF_RGD_ID:8694191 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:22743328|REF_RGD_ID:8694093 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732180 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22229649|REF_RGD_ID:8694187 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9005815 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic PMID:12210792|PMID:12872260|PMID:15349879|PMID:15689359|PMID:15929042|PMID:16177225|PMID:17426723|PMID:17980715|PMID:18500570|PMID:18828154|PMID:19307547|PMID:19478085|PMID:20301791|PMID:20513108|PMID:20818383|PMID:21228000|PMID:21670405|PMID:21880868|PMID:22006280|PMID:22189570|PMID:22342071|PMID:22616202|PMID:23448099|PMID:24272679|PMID:25585994|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34782754 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9006476 Spinocerebellar Ataxia with Epilepsy ISO RGD:732179 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia with epilepsy PMID:11431686|PMID:11571332|PMID:12565911|PMID:14635118|PMID:14694057|PMID:15122711|PMID:15477547|PMID:15689359|PMID:15689448|PMID:1582434|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16545482|PMID:16621917|PMID:16638794|PMID:16639411|PMID:16896309|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17894835|PMID:18294203|PMID:18321754|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19251978|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19881469|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20301515|PMID:20301791|PMID:20438629|PMID:20576279|PMID:20691285|PMID:20818383|PMID:20837861|PMID:21235791|PMID:21236670|PMID:21276947|PMID:21357833|PMID:21455106|PMID:21515089|PMID:21647632|PMID:21686371|PMID:21880868|PMID:21943391|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22616202|PMID:22711370|PMID:22931735|PMID:22995991|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23430834|PMID:23448099|PMID:23783014|PMID:23808377|PMID:24033266|PMID:24122062|PMID:24272679|PMID:24725338|PMID:25025039|PMID:25065347|PMID:25286830|PMID:25497598|PMID:25585994|PMID:25713120|PMID:25741868|PMID:26077851|PMID:26104464|PMID:26169155|PMID:26467025|PMID:26607151|PMID:26735972|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27290639|PMID:27422324|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28130605|PMID:28206745|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29272804|PMID:29358615|PMID:29423831|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:30021052|PMID:30167885|PMID:30306720|PMID:30369941|PMID:30423451|PMID:30843307|PMID:30860128|PMID:31164858|PMID:31475037|PMID:31589614|PMID:31980526|PMID:32391929|PMID:33469851|PMID:33473333|PMID:33726816|PMID:34782754|PMID:632821 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9006534 Nervous System Malformations ISO RGD:732179 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:19752458|PMID:20185557|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21305355|PMID:21880868|PMID:22189570|PMID:22616202|PMID:23208208|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27111573|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30021052|PMID:30167885|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33579567|PMID:33956154|PMID:34008892|PMID:34194468|PMID:34927673|PMID:35350396|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9007096 Stroke ISO RGD:732179 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Stroke PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:33396418|PMID:33579567|PMID:33956154|PMID:34008892|PMID:34194468|PMID:34927673|PMID:35350396|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18208989|PMID:20138553 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human) PMID:30255931|REF_RGD_ID:15039297 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human) PMID:30255931|REF_RGD_ID:15039297 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury no_association ISO RGD:732180 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.Q1236H, p.E1143G (33708G>T, 3428A>G) (human) PMID:30255931|REF_RGD_ID:15039297 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:620057 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human) PMID:25065347|REF_RGD_ID:15039302 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:732179 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human) PMID:25065347|REF_RGD_ID:15039302 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:732180 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W748S, p.E1143G (2243G>C, 3428A>G) (human) PMID:25065347|REF_RGD_ID:15039302 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9008086 Developmental Disabilities ISO RGD:732179 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11555352|PMID:12210792|PMID:12297582|PMID:12707443|PMID:12825077|PMID:12975295|PMID:14635118|PMID:15349879|PMID:1539879|PMID:15689359|PMID:16401742|PMID:16545482|PMID:16621917|PMID:17418573|PMID:18487244|PMID:18546365|PMID:18828154|PMID:19189930|PMID:19251978|PMID:19566497|PMID:19578034|PMID:20385918|PMID:20513108|PMID:21138766|PMID:21880868|PMID:22616202|PMID:23324391|PMID:23448099|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23921535|PMID:24122062|PMID:24265579|PMID:24508722|PMID:25585994|PMID:25660390|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26104464|PMID:26224072|PMID:26337858|PMID:26467025|PMID:26468652|PMID:26742794|PMID:27538604|PMID:28130605|PMID:28154168|PMID:28471437|PMID:28492532|PMID:28812649|PMID:29358615|PMID:29431110|PMID:29474836|PMID:30369941|PMID:30423451|PMID:30487145|PMID:30936349|PMID:31645654|PMID:32019516|PMID:33396418|PMID:33579567|PMID:33956154|PMID:34008892|PMID:34194468|PMID:34927673|PMID:35350396|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:732179 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29920680|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31571979|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32165824|PMID:32234506|PMID:32445240|PMID:32567010|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33600046|PMID:33726816|PMID:34008892|PMID:34782754|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:11431686|PMID:11555352|PMID:11571332|PMID:12210792|PMID:12297582|PMID:12565911|PMID:12707443|PMID:12825077|PMID:12872260|PMID:12975295|PMID:14557557|PMID:14635118|PMID:14694057|PMID:14745080|PMID:15122711|PMID:15181170|PMID:15349879|PMID:15351195|PMID:1539879|PMID:15477547|PMID:15689359|PMID:15689448|PMID:15824347|PMID:15917273|PMID:15929042|PMID:16024923|PMID:16080118|PMID:16130100|PMID:16177225|PMID:16368709|PMID:16401742|PMID:16545482|PMID:16621917|PMID:16634032|PMID:16638794|PMID:16639411|PMID:16896309|PMID:16940310|PMID:17088268|PMID:17418573|PMID:17426723|PMID:17438011|PMID:17452231|PMID:17846414|PMID:17894835|PMID:17950645|PMID:17980715|PMID:18156159|PMID:18195149|PMID:18195151|PMID:18294203|PMID:18321754|PMID:18414213|PMID:18484607|PMID:18487244|PMID:18500570|PMID:18546343|PMID:18546365|PMID:18585914|PMID:1858914|PMID:18716558|PMID:18783964|PMID:18828154|PMID:18991199|PMID:19010300|PMID:19103152|PMID:19125351|PMID:19189930|PMID:19251978|PMID:19307547|PMID:19344718|PMID:19478085|PMID:19501198|PMID:19538466|PMID:19566497|PMID:19578034|PMID:19629138|PMID:19752458|PMID:19766516|PMID:19813183|PMID:19815814|PMID:19862739|PMID:19881469|PMID:20138553|PMID:20142534|PMID:20153822|PMID:20185557|PMID:20227526|PMID:20301515|PMID:20301791|PMID:20385918|PMID:20434700|PMID:20438629|PMID:20513108|PMID:20513922|PMID:20576279|PMID:20601675|PMID:20691285|PMID:20803511|PMID:20818383|PMID:20837861|PMID:20837862|PMID:20843780|PMID:21038416|PMID:21138766|PMID:21228000|PMID:21228398|PMID:21235791|PMID:21236670|PMID:21259344|PMID:21276947|PMID:21282586|PMID:21357833|PMID:21455106|PMID:21484424|PMID:21515089|PMID:21647632|PMID:21654874|PMID:21670405|PMID:21686371|PMID:21824913|PMID:21856450|PMID:21880868|PMID:21943391|PMID:21956653|PMID:21993618|PMID:22006280|PMID:22166854|PMID:22189570|PMID:22342071|PMID:22494076|PMID:22616202|PMID:22647225|PMID:22711370|PMID:22727047|PMID:22863191|PMID:22931735|PMID:22987704|PMID:22995991|PMID:23084792|PMID:23212759|PMID:23248042|PMID:23250882|PMID:23251356|PMID:23299917|PMID:23324391|PMID:23426270|PMID:23430834|PMID:23446635|PMID:23446645|PMID:23448099|PMID:23524600|PMID:23665194|PMID:23783014|PMID:23804100|PMID:23808377|PMID:23811324|PMID:23921535|PMID:24033266|PMID:24122062|PMID:24259288|PMID:24265579|PMID:24272679|PMID:24288107|PMID:24331360|PMID:24508722|PMID:24642831|PMID:24725338|PMID:25025039|PMID:25118206|PMID:25193669|PMID:25286830|PMID:25356970|PMID:25462018|PMID:25497598|PMID:25585994|PMID:25660390|PMID:25713120|PMID:25741868|PMID:25742477|PMID:25850945|PMID:25940035|PMID:26077851|PMID:26095671|PMID:26104464|PMID:26169155|PMID:26224072|PMID:26337858|PMID:26357557|PMID:26467025|PMID:26468652|PMID:26557169|PMID:26607151|PMID:26735972|PMID:26742794|PMID:26755490|PMID:26942291|PMID:26942292|PMID:27016405|PMID:27119776|PMID:27185166|PMID:27271921|PMID:27290639|PMID:27422324|PMID:27450679|PMID:27538604|PMID:27538665|PMID:27822509|PMID:27838477|PMID:27987238|PMID:28128857|PMID:28130605|PMID:28154168|PMID:28206745|PMID:28337550|PMID:28444220|PMID:28471437|PMID:28480171|PMID:28492532|PMID:28634151|PMID:28771251|PMID:28776642|PMID:28812649|PMID:28837072|PMID:28865037|PMID:29029963|PMID:29272804|PMID:29341116|PMID:29358615|PMID:29423831|PMID:29431110|PMID:29474836|PMID:29482223|PMID:29574624|PMID:29588995|PMID:29655203|PMID:29712893|PMID:29913018|PMID:29920680|PMID:29997391|PMID:30021052|PMID:30167885|PMID:30255931|PMID:30290626|PMID:30306720|PMID:30369941|PMID:30373890|PMID:30404819|PMID:30423451|PMID:30487145|PMID:30637288|PMID:30818899|PMID:30843307|PMID:30860128|PMID:30936349|PMID:31085725|PMID:31164858|PMID:31475037|PMID:31521625|PMID:31589614|PMID:31645654|PMID:31658717|PMID:31669236|PMID:31980526|PMID:32042919|PMID:32234506|PMID:32305867|PMID:32391929|PMID:32445240|PMID:32567010|PMID:32613234|PMID:33233646|PMID:33396418|PMID:33434755|PMID:33469851|PMID:33473333|PMID:33486010|PMID:33513296|PMID:33579567|PMID:33600046|PMID:33683010|PMID:33726816|PMID:33956154|PMID:34008892|PMID:34052969 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:732179 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:34062649|PMID:34194468|PMID:34426522|PMID:34670123|PMID:34782754|PMID:34927673|PMID:35114397|PMID:35307828|PMID:35350396|PMID:35699875|PMID:35799515|PMID:35861376|PMID:36325100|PMID:36332611|PMID:36703223|PMID:36987741|PMID:37184518|PMID:37189790|PMID:632821|PMID:7847370 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9009021 Plagiocephaly ISO RGD:732179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:21550804|PMID:21880868|PMID:25741868|PMID:28492532|PMID:30755392 8834238 Polg DNA polymerase gamma, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:732179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8834285 Yjefn3 YjeF N-terminal domain containing 3 gene DOID:11054 urinary bladder cancer ISO RGD:1605797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8834285 Yjefn3 YjeF N-terminal domain containing 3 gene DOID:630 genetic disease ISO RGD:1605797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834371 Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:0080600 COVID-19 ISO RGD:1323550 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8834371 Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1323550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8834371 Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:2843 long QT syndrome ISO RGD:1323550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8834371 Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:630 genetic disease ISO RGD:1323550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834371 Smarcd3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1311869 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:heart left ventricle PMID:23702776|REF_RGD_ID:9586349 8834386 Txndc17 thioredoxin domain containing 17 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1318890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 8834386 Txndc17 thioredoxin domain containing 17 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1318890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8834386 Txndc17 thioredoxin domain containing 17 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1318890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8834386 Txndc17 thioredoxin domain containing 17 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1318890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8834386 Txndc17 thioredoxin domain containing 17 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1318890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8834386 Txndc17 thioredoxin domain containing 17 gene DOID:630 genetic disease ISO RGD:1318890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834409 Prr34 PRR34 long non-coding RNA gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8834409 Prr34 PRR34 long non-coding RNA gene DOID:1059 intellectual disability ISO RGD:1602476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8834417 Fut10 fucosyltransferase 10 gene DOID:630 genetic disease ISO RGD:1354084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834427 Znrd2 zinc ribbon domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1323499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8834427 Znrd2 zinc ribbon domain containing 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8834427 Znrd2 zinc ribbon domain containing 2 gene DOID:2746 glycogen storage disease V ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8834427 Znrd2 zinc ribbon domain containing 2 gene DOID:3070 high grade glioma ISO RGD:1323499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8834427 Znrd2 zinc ribbon domain containing 2 gene DOID:630 genetic disease ISO RGD:1323499 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834427 Znrd2 zinc ribbon domain containing 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323499 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8834427 Znrd2 zinc ribbon domain containing 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:0111278 histiocytosis-lymphadenopathy plus syndrome ISO RGD:1351725 D RGD:7240710 20180130 OMIM 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:0111278 histiocytosis-lymphadenopathy plus syndrome ISO RGD:1351725 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome PMID:16118898|PMID:16155931|PMID:16199547|PMID:16650224|PMID:17461801|PMID:17576681|PMID:18414213|PMID:18940313|PMID:18947330|PMID:19175903|PMID:19336477|PMID:19889517|PMID:20140240|PMID:20199539|PMID:20595384|PMID:20619369|PMID:21178579|PMID:21888995|PMID:22238637|PMID:22653152|PMID:22679148|PMID:22875837|PMID:23406517|PMID:23530176|PMID:23789599|PMID:24172204|PMID:24894595|PMID:25741868|PMID:25963354|PMID:25967258|PMID:26074390|PMID:27143505|PMID:27215564|PMID:27364927|PMID:28492532|PMID:28554179|PMID:29041934|PMID:29751792|PMID:29808591|PMID:30537558|PMID:30783801|PMID:31276222|PMID:31464584|PMID:32151906|PMID:33837634|PMID:33947670|PMID:9536098|PMID:9545394 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:1682 congenital heart disease ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:1924 hypogonadism ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:3138 acanthosis nigricans ISO RGD:1351725 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:25741868|PMID:28492532|PMID:29751792|PMID:31464584 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:3405 histiocytosis ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22238637 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:420 hypertrichosis ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336477|PMID:20140240 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:630 genetic disease ISO RGD:1351725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:9000755 Asrar Facharzt Haque Syndrome ISO RGD:1351725 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome PMID:19175903|PMID:19336477|PMID:19889517|PMID:20595384|PMID:21888995|PMID:22875837|PMID:23530176|PMID:25741868|PMID:27143505|PMID:27364927|PMID:28492532|PMID:29041934|PMID:29751792|PMID:29808591|PMID:31464584 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:9001904 Sinus Histiocytosis ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:9003984 Hyperpigmentation ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336477|PMID:20140240 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:9004538 Hearing Loss ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:9005369 Hepatomegaly ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140240 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:9006667 Dysosteosclerosis ISO RGD:1351725 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Dysosteosclerosis PMID:25741868|PMID:28492532|PMID:33837634 8834435 Slc29a3 solute carrier family 29 member 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336477|PMID:20140240 8834448 Praf2 PRA1 domain family member 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:26173968 8834448 Praf2 PRA1 domain family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8834448 Praf2 PRA1 domain family member 2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8834448 Praf2 PRA1 domain family member 2 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8834448 Praf2 PRA1 domain family member 2 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8834448 Praf2 PRA1 domain family member 2 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8834448 Praf2 PRA1 domain family member 2 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8834448 Praf2 PRA1 domain family member 2 gene DOID:12849 autistic disorder ISO RGD:1350856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8834448 Praf2 PRA1 domain family member 2 gene DOID:630 genetic disease ISO RGD:1350856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834448 Praf2 PRA1 domain family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8834455 Pip5k1b phosphatidylinositol-4-phosphate 5-kinase type 1 beta gene DOID:630 genetic disease ISO RGD:1322093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834479 Cbx7 chromobox 7 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353483 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8834479 Cbx7 chromobox 7 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression::colorectum: PMID:22041561|REF_RGD_ID:9587355 8834479 Cbx7 chromobox 7 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland: PMID:18701502|REF_RGD_ID:9587357 8834479 Cbx7 chromobox 7 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:thyroid gland: PMID:19706751|REF_RGD_ID:9586729 8834479 Cbx7 chromobox 7 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:1550491 D RGD:9068941 20200609 RGD mRNA:decreased expression:thyroid gland: PMID:18701502|REF_RGD_ID:9587357 8834479 Cbx7 chromobox 7 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:17374722|REF_RGD_ID:11352707 8834479 Cbx7 chromobox 7 gene DOID:10283 prostate cancer ISO RGD:1353483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8834479 Cbx7 chromobox 7 gene DOID:10534 stomach cancer disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:increased expression:stomach: PMID:20723236|REF_RGD_ID:9587358 8834479 Cbx7 chromobox 7 gene DOID:11054 urinary bladder cancer severity ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder (human) PMID:18984978|REF_RGD_ID:9587361 8834479 Cbx7 chromobox 7 gene DOID:1612 breast cancer severity ISO RGD:1353483 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:25351982|REF_RGD_ID:11352704 8834479 Cbx7 chromobox 7 gene DOID:2671 transitional cell carcinoma severity ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder: PMID:18984978|REF_RGD_ID:9587361 8834479 Cbx7 chromobox 7 gene DOID:3068 glioblastoma disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:astrocyte: PMID:24260522|REF_RGD_ID:9587354 8834479 Cbx7 chromobox 7 gene DOID:3459 breast carcinoma severity ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:breast (human) PMID:21779448|REF_RGD_ID:11352698 8834479 Cbx7 chromobox 7 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:20185297|REF_RGD_ID:9587360 8834479 Cbx7 chromobox 7 gene DOID:3910 lung adenocarcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,DNA:decreased expression, loss of heterozygosity:lung: PMID:22214847|REF_RGD_ID:9587356 8834479 Cbx7 chromobox 7 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland: PMID:18701502|REF_RGD_ID:9587357 8834479 Cbx7 chromobox 7 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1550491 D RGD:9068941 20200609 RGD mRNA:decreased expression:thyroid gland (mouse) PMID:18701502|REF_RGD_ID:9587357 8834479 Cbx7 chromobox 7 gene DOID:4468 clear cell adenocarcinoma disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD PMID:24375438|REF_RGD_ID:9587359 8834479 Cbx7 chromobox 7 gene DOID:5517 stomach carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach: PMID:22041561|REF_RGD_ID:9587355 8834479 Cbx7 chromobox 7 gene DOID:630 genetic disease ISO RGD:1353483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834479 Cbx7 chromobox 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:22041561|REF_RGD_ID:9587355 8834479 Cbx7 chromobox 7 gene DOID:707 B-cell lymphoma ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:17374722|REF_RGD_ID:11352707 8834479 Cbx7 chromobox 7 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid Human) PMID:25759796|REF_RGD_ID:11352710 8834479 Cbx7 chromobox 7 gene DOID:8692 myeloid leukemia treatment ISO RGD:1353483 D RGD:9068941 20200609 RGD PMID:26343356|REF_RGD_ID:11352715 8834479 Cbx7 chromobox 7 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:20185297|REF_RGD_ID:9587360 8834479 Cbx7 chromobox 7 gene DOID:9004441 Experimental Leukemia ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:25434821|REF_RGD_ID:11352713 8834479 Cbx7 chromobox 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:lung (human) PMID:22214847|REF_RGD_ID:9587356 8834479 Cbx7 chromobox 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:22214847|REF_RGD_ID:9587356 8834479 Cbx7 chromobox 7 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1353483 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland: PMID:18701502|REF_RGD_ID:9587357 8834479 Cbx7 chromobox 7 gene DOID:916 liver benign neoplasm ISO RGD:1550491 D RGD:9068941 20200609 RGD PMID:22214847|REF_RGD_ID:9587356 8834479 Cbx7 chromobox 7 gene DOID:9538 multiple myeloma ISO RGD:1353483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955597 8834479 Cbx7 chromobox 7 gene DOID:9538 multiple myeloma susceptibility ISO RGD:1353483 D RGD:9068941 20200609 RGD DNA:snp:intron:c.113+3502C>T (human) (rs877529) PMID:23955597|REF_RGD_ID:11352716 8834490 LOC102011130 chromosome unknown open reading frame, human C20orf173 gene DOID:630 genetic disease ISO RGD:1351674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834502 Upk3b uroplakin 3B gene DOID:0080600 COVID-19 ISO RGD:1320049 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8834502 Upk3b uroplakin 3B gene DOID:630 genetic disease ISO RGD:1320049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834502 Upk3b uroplakin 3B gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1320049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8834519 Foxp3 forkhead box P3 gene DOID:0050200 Korean hemorrhagic fever ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA:increased expression:lung PMID:17878294|REF_RGD_ID:2325989 8834519 Foxp3 forkhead box P3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 8834519 Foxp3 forkhead box P3 gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1348507 D RGD:9068941 20200813 RGD PMID:23797717|REF_RGD_ID:38456007 8834519 Foxp3 forkhead box P3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8834519 Foxp3 forkhead box P3 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:24258212|PMID:25741868|PMID:28492532 8834519 Foxp3 forkhead box P3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8834519 Foxp3 forkhead box P3 gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1562112 D RGD:9068941 20200910 RGD PMID:22344929|REF_RGD_ID:38599140 8834519 Foxp3 forkhead box P3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348507 D RGD:7240710 20180130 OMIM 8834519 Foxp3 forkhead box P3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348507 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:10706361|PMID:11120765|PMID:11137992|PMID:11137993|PMID:11295725|PMID:11768393|PMID:12161590|PMID:14671208|PMID:15096376|PMID:16199547|PMID:16630773|PMID:16741580|PMID:16920951|PMID:17576681|PMID:17586580|PMID:17635943|PMID:18414213|PMID:18795917|PMID:18820676|PMID:18931102|PMID:18951619|PMID:19189134|PMID:19471859|PMID:19633572|PMID:20537998|PMID:20650610|PMID:21036387|PMID:22000569|PMID:22581967|PMID:22590469|PMID:23313429|PMID:23534934|PMID:24033266|PMID:24250806|PMID:24258212|PMID:24792626|PMID:24916357|PMID:24982679|PMID:25326164|PMID:25363768|PMID:25546394|PMID:25741868|PMID:25911531|PMID:26467025|PMID:26661331|PMID:26748374|PMID:26748735|PMID:27167055|PMID:28289675|PMID:28492532|PMID:28778586|PMID:28783662|PMID:28993341|PMID:29193502|PMID:29241729|PMID:29312905|PMID:29896738|PMID:29907148|PMID:30191644|PMID:30293990|PMID:30385752|PMID:30443250|PMID:30510991|PMID:30805323|PMID:30894704|PMID:31027649|PMID:31130284|PMID:31990476|PMID:32279225|PMID:32531870|PMID:33046911|PMID:33194927|PMID:33523441|PMID:33637067|PMID:3375136|PMID:33751536|PMID:33833438|PMID:34216291|PMID:9536098 8834519 Foxp3 forkhead box P3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8834519 Foxp3 forkhead box P3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8834519 Foxp3 forkhead box P3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8834519 Foxp3 forkhead box P3 gene DOID:106 pleural tuberculosis disease_progression ISO RGD:1348507 D RGD:9068941 20200806 RGD associated with human immunodeficiency virus infectious disease; PMID:21303360|REF_RGD_ID:36947878 8834519 Foxp3 forkhead box P3 gene DOID:10763 hypertension treatment ISO RGD:1562112 D RGD:9068941 20200831 RGD PMID:24420551|REF_RGD_ID:38549366 8834519 Foxp3 forkhead box P3 gene DOID:11166 papillomavirus infectious disease susceptibility ISO RGD:1348507 D RGD:9068941 20200820 RGD DNA:SNP::rs3761548(human) PMID:31177386|REF_RGD_ID:38501104 8834519 Foxp3 forkhead box P3 gene DOID:11168 anogenital venereal wart ISO RGD:1348507 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 8834519 Foxp3 forkhead box P3 gene DOID:11263 chlamydia treatment ISO RGD:1348507 D RGD:9068941 20200807 RGD PMID:30832593|REF_RGD_ID:38455984 8834519 Foxp3 forkhead box P3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8834519 Foxp3 forkhead box P3 gene DOID:1205 allergic disease ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27965764 8834519 Foxp3 forkhead box P3 gene DOID:12236 primary biliary cholangitis ISO RGD:1348507 D RGD:9068941 20200820 RGD mRNA:increased expression:liver PMID:17158635|REF_RGD_ID:38501106 8834519 Foxp3 forkhead box P3 gene DOID:12365 malaria ISO RGD:1348507 D RGD:9068941 20200807 RGD PMID:19338000|REF_RGD_ID:38455985 8834519 Foxp3 forkhead box P3 gene DOID:12365 malaria disease_progression ISO RGD:1348507 D RGD:9068941 20200807 RGD PMID:16169501|REF_RGD_ID:38455992 8834519 Foxp3 forkhead box P3 gene DOID:12849 autistic disorder ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8834519 Foxp3 forkhead box P3 gene DOID:1459 hypothyroidism treatment ISO RGD:1562112 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 8834519 Foxp3 forkhead box P3 gene DOID:1883 hepatitis C ISO RGD:1348507 D RGD:9068941 20200813 RGD mRNA:increased expression:liver PMID:17414718|REF_RGD_ID:38456005 8834519 Foxp3 forkhead box P3 gene DOID:2043 hepatitis B ISO RGD:1348507 D RGD:9068941 20200827 RGD associated with hepatocellular carcinoma; protein:increased expression:liver PMID:21086571|REF_RGD_ID:38548919 8834519 Foxp3 forkhead box P3 gene DOID:2355 anemia ISO RGD:1348507 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Anemia PMID:11137992|PMID:11295725|PMID:20650610|PMID:23534934|PMID:25546394|PMID:25741868|PMID:28492532|PMID:29312905 8834519 Foxp3 forkhead box P3 gene DOID:2723 dermatitis ISO RGD:1557838 D RGD:9068941 20200831 RGD PMID:22466646|REF_RGD_ID:38549359 8834519 Foxp3 forkhead box P3 gene DOID:2799 bronchiolitis obliterans ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA:increased expression:lung PMID:19840961|REF_RGD_ID:4889978 8834519 Foxp3 forkhead box P3 gene DOID:2841 asthma ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27965764|PMID:29317916 8834519 Foxp3 forkhead box P3 gene DOID:2841 asthma treatment ISO RGD:1557838 D RGD:9068941 20200827 RGD PMID:27633092|REF_RGD_ID:38548920 8834519 Foxp3 forkhead box P3 gene DOID:2841 asthma treatment ISO RGD:1562112 D RGD:9068941 20200831 RGD PMID:28944907|REF_RGD_ID:38549365 8834519 Foxp3 forkhead box P3 gene DOID:289 endometriosis severity ISO RGD:1348507 D RGD:9068941 20200820 RGD PMID:22541024|REF_RGD_ID:38501099 8834519 Foxp3 forkhead box P3 gene DOID:2938 Epstein-Barr virus infectious disease susceptibility ISO RGD:1348507 D RGD:9068941 20200827 RGD associated with adult T-cell leukemia; PMID:18246047|REF_RGD_ID:38548918 8834519 Foxp3 forkhead box P3 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1348507 D RGD:9068941 20200820 RGD DNA:polymorphism:promoter:-924A>G(human) PMID:29020928|REF_RGD_ID:38501101 8834519 Foxp3 forkhead box P3 gene DOID:321 tropical spastic paraparesis ISO RGD:1348507 D RGD:9068941 20200831 RGD mRNA:decreased expression: T cell PMID:20945034|REF_RGD_ID:38549361 8834519 Foxp3 forkhead box P3 gene DOID:321 tropical spastic paraparesis disease_progression ISO RGD:1348507 D RGD:9068941 20200813 RGD PMID:28101786|REF_RGD_ID:38456004 8834519 Foxp3 forkhead box P3 gene DOID:3298 vaccinia ISO RGD:1557838 D RGD:9068941 20200806 RGD PMID:20548030|REF_RGD_ID:36947870 8834519 Foxp3 forkhead box P3 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1348507 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 8834519 Foxp3 forkhead box P3 gene DOID:401 multidrug-resistant tuberculosis ISO RGD:1348507 D RGD:9068941 20200813 RGD mRNA:increased expression:peripheral blood: PMID:25483347|REF_RGD_ID:38456003 8834519 Foxp3 forkhead box P3 gene DOID:4166 syphilis treatment ISO RGD:1348507 D RGD:9068941 20200813 RGD PMID:27284313|REF_RGD_ID:38456006 8834519 Foxp3 forkhead box P3 gene DOID:4404 occupational dermatitis ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29477354 8834519 Foxp3 forkhead box P3 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1562112 D RGD:9068941 20200910 RGD DNA:hypomethylation:liver PMID:24291052|REF_RGD_ID:38599002 8834519 Foxp3 forkhead box P3 gene DOID:630 genetic disease ISO RGD:1348507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8834519 Foxp3 forkhead box P3 gene DOID:684 hepatocellular carcinoma ISO RGD:1348507 D RGD:9068941 20200827 RGD protein:increased expression:liver PMID:21086571|REF_RGD_ID:38548919 8834519 Foxp3 forkhead box P3 gene DOID:7148 rheumatoid arthritis ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20476861 8834519 Foxp3 forkhead box P3 gene DOID:8568 infectious mononucleosis disease_progression ISO RGD:1348507 D RGD:9068941 20200820 RGD PMID:23628056|REF_RGD_ID:38501103 8834519 Foxp3 forkhead box P3 gene DOID:874 bacterial pneumonia severity ISO RGD:1557838 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 8834519 Foxp3 forkhead box P3 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1562112 D RGD:9068941 20200903 RGD PMID:30287503|REF_RGD_ID:38549580 8834519 Foxp3 forkhead box P3 gene DOID:9000099 Experimental Colitis ISO RGD:1557838 D RGD:9068941 20200807 RGD protein:increased expression:colon: PMID:17229795|REF_RGD_ID:38455995 8834519 Foxp3 forkhead box P3 gene DOID:9000099 Experimental Colitis ISO RGD:1557838 D RGD:9068941 20200831 RGD mRNA:increased expression:mucosa: PMID:27498708|REF_RGD_ID:14975101 8834519 Foxp3 forkhead box P3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1557838 D RGD:9068941 20200807 RGD PMID:26925602|REF_RGD_ID:38455994 8834519 Foxp3 forkhead box P3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1562112 D RGD:9068941 20200831 RGD PMID:28733028|REF_RGD_ID:38549362 8834519 Foxp3 forkhead box P3 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1348507 D RGD:9068941 20200831 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: PMID:21489307|REF_RGD_ID:38549358 8834519 Foxp3 forkhead box P3 gene DOID:9000310 Lung Injury ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28630656 8834519 Foxp3 forkhead box P3 gene DOID:9001099 Hydranencephaly with Renal Aplasia-Dysplasia ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia PMID:25741868 8834519 Foxp3 forkhead box P3 gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:1562112 D RGD:9068941 20200903 RGD PMID:28892130|REF_RGD_ID:38549573 8834519 Foxp3 forkhead box P3 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:1562112 D RGD:9068941 20200910 RGD PMID:19907173|REF_RGD_ID:13702882 8834519 Foxp3 forkhead box P3 gene DOID:9002457 Experimental Arthritis ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA,protein:decreased expression:lung PMID:23643080|REF_RGD_ID:38599003 8834519 Foxp3 forkhead box P3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1562112 D RGD:9068941 20200831 RGD PMID:29264841|REF_RGD_ID:38549364 8834519 Foxp3 forkhead box P3 gene DOID:9002780 Recurrent Respiratory Papillomatosis susceptibility ISO RGD:1348507 D RGD:9068941 20200831 RGD DNA:SNPs:promoter:rs5902434,rs2232365 (human) PMID:28298239|REF_RGD_ID:38549360 8834519 Foxp3 forkhead box P3 gene DOID:9003040 Squamous Intraepithelial Lesions of the Cervix severity ISO RGD:1348507 D RGD:9068941 20200820 RGD DNA:SNP::rs3761548(human) PMID:31177386|REF_RGD_ID:38501104 8834519 Foxp3 forkhead box P3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1348507 D RGD:9068941 20200827 RGD PMID:18673437|REF_RGD_ID:38548921 8834519 Foxp3 forkhead box P3 gene DOID:9004283 Transplant Rejection ISO RGD:1348507 D RGD:9068941 20200813 RGD mRNA:increased expression:liver PMID:17414718|REF_RGD_ID:38456005 8834519 Foxp3 forkhead box P3 gene DOID:9004283 Transplant Rejection ISO RGD:1557838 D RGD:9068941 20200910 RGD PMID:21199671|REF_RGD_ID:38599144 8834519 Foxp3 forkhead box P3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1557838 D RGD:9068941 20200903 RGD PMID:28457422|REF_RGD_ID:38549577 8834519 Foxp3 forkhead box P3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348507 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11137993|PMID:18931102|PMID:23313429|PMID:24982679|PMID:25741868|PMID:25911531|PMID:26467025|PMID:27167055|PMID:28289675|PMID:28492532|PMID:29193502|PMID:30443250|PMID:32531870|PMID:33194927|PMID:33523441 8834519 Foxp3 forkhead box P3 gene DOID:9004484 Sepsis severity ISO RGD:1348507 D RGD:9068941 20200806 RGD PMID:25403265|REF_RGD_ID:38455982 8834519 Foxp3 forkhead box P3 gene DOID:9004656 Airway Remodeling treatment ISO RGD:1557838 D RGD:9068941 20200827 RGD PMID:27633092|REF_RGD_ID:38548920 8834519 Foxp3 forkhead box P3 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1557838 D RGD:9068941 20200820 RGD mRNA:decreased expression:placenta: PMID:21923716|REF_RGD_ID:38501105 8834519 Foxp3 forkhead box P3 gene DOID:9005172 Lung Neoplasms ISO RGD:1348507 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34166680 8834519 Foxp3 forkhead box P3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA,protein:increased expression: peripheral blood, spleen, lymphoid node PMID:18328191|REF_RGD_ID:38599142 8834519 Foxp3 forkhead box P3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1562112 D RGD:9068941 20200910 RGD PMID:32341701|REF_RGD_ID:38599143 8834519 Foxp3 forkhead box P3 gene DOID:9005930 Endotoxemia ISO RGD:1562112 D RGD:9068941 20200806 RGD protein:increased expression:intestinal mucosa PMID:19998507|REF_RGD_ID:38455980 8834519 Foxp3 forkhead box P3 gene DOID:9005968 Neuralgia ISO RGD:1562112 D RGD:9068941 20200910 RGD mRNA:increased expression: L4-L5 of the spinal cord PMID:30858084|REF_RGD_ID:38599004 8834519 Foxp3 forkhead box P3 gene DOID:9005968 Neuralgia treatment ISO RGD:1557838 D RGD:9068941 20200910 RGD PMID:30858084|REF_RGD_ID:38599004 8834519 Foxp3 forkhead box P3 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:1562112 D RGD:9068941 20200903 RGD protein:decreased expression:sciatic nerve PMID:30464413|REF_RGD_ID:38549576 8834519 Foxp3 forkhead box P3 gene DOID:9007204 Dysbiosis treatment ISO RGD:1562112 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 8834519 Foxp3 forkhead box P3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1348507 D RGD:9068941 20200827 RGD PMID:18673437|REF_RGD_ID:38548921 8834519 Foxp3 forkhead box P3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1348507 D RGD:9068941 20200831 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell, liver: PMID:21489307|REF_RGD_ID:38549358 8834519 Foxp3 forkhead box P3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1348507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:11137992|PMID:11295725|PMID:16920951|PMID:22590469|PMID:25546394|PMID:25741868|PMID:28492532|PMID:28778586|PMID:28783662|PMID:30293990|PMID:30443250|PMID:31130284|PMID:33637067 8834519 Foxp3 forkhead box P3 gene DOID:9008861 Wound Infection severity ISO RGD:1562112 D RGD:9068941 20200910 RGD associated with Pseudomonas aeruginosa infection;mRNA:increased expression:wound fluid: PMID:22141756|REF_RGD_ID:38599139 8834519 Foxp3 forkhead box P3 gene DOID:9008939 Breast Neoplasms ISO RGD:1348507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17570480 8834519 Foxp3 forkhead box P3 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1348507 D RGD:9068941 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: PMID:29205403|REF_RGD_ID:38455981 8834519 Foxp3 forkhead box P3 gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1557838 D RGD:9068941 20220825 MouseDO OMIM:301000 | OMIM:614493 8834519 Foxp3 forkhead box P3 gene DOID:9256 colorectal cancer ISO RGD:1348507 D RGD:9068941 20200910 RGD DNA:hypomethylation:colorectum PMID:24291052|REF_RGD_ID:38599002 8834519 Foxp3 forkhead box P3 gene DOID:9351 diabetes mellitus ISO RGD:1348507 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:11137993|PMID:23313429|PMID:25741868|PMID:28492532|PMID:29193502|PMID:33194927|PMID:33523441 8834519 Foxp3 forkhead box P3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:25741868 8834519 Foxp3 forkhead box P3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1348507 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;DNA:mutations: :multiple (human) PMID:11137992|REF_RGD_ID:1598959 8834570 Tent2 terminal nucleotidyltransferase 2 gene DOID:630 genetic disease ISO RGD:1315054 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834570 Tent2 terminal nucleotidyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:0050328 congenital hypothyroidism ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:10487695|PMID:3998954 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:28492532 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:0112183 familial thyroid dyshormonogenesis ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid Hormonogenesis Defect 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:0112185 thyroid dyshormonogenesis 1 ISO RGD:731751 D RGD:7240710 20180130 OMIM 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:0112185 thyroid dyshormonogenesis 1 ISO RGD:731751 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 PMID:10487695|PMID:10902780|PMID:21565787|PMID:25525159|PMID:25741868|PMID:28492532|PMID:32805706|PMID:3998954|PMID:9171822|PMID:9388506|PMID:9398697|PMID:9486973|PMID:9657379|PMID:9709973|PMID:9745458|PMID:9814502 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:13938 amenorrhea ISO RGD:731751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:14566 disease of cellular proliferation ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15522214 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:1909 melanoma ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:3070 high grade glioma ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:4947 cholangiocarcinoma ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17408651 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:630 genetic disease ISO RGD:731751 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15347726|PMID:15520214 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:9002265 Kidney Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024|PMID:14633711 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:731751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:28492532 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:9004547 Thyroid Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16954431|PMID:17045167 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:731751 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12489024 8834591 Slc5a5 solute carrier family 5 member 5 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:731751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8834610 Pcbp2 poly(rC) binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:733213 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ISO RGD:733213 D RGD:7240710 20180130 OMIM 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ISO RGD:733213 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome PMID:10636977|PMID:10871207|PMID:11214910|PMID:17576681|PMID:18414213|PMID:18928469|PMID:19046187|PMID:19344873|PMID:19690084|PMID:22730017|PMID:23506826|PMID:23869231|PMID:25008049|PMID:25741868|PMID:26467025|PMID:26759084|PMID:26839063|PMID:27188453|PMID:28165182|PMID:28492532|PMID:30252420|PMID:30306091|PMID:30352420|PMID:30425915|PMID:31119523|PMID:34992182|PMID:35951311|PMID:36239000|PMID:9469993|PMID:9536098|PMID:9571225|PMID:9571255|PMID:9843361 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:733213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:1059 intellectual disability ISO RGD:733213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:733213 D RGD:9068941 20200609 RGD protein:increased expression, decreased oxidation:brain PMID:16298240|REF_RGD_ID:6484556 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:10652 Alzheimer's disease ISO RGD:733213 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16341942|REF_RGD_ID:6484555 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:11832 visual epilepsy ISO RGD:2708 D RGD:9068941 20200609 RGD PMID:11240587|REF_RGD_ID:6484589 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:2708 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:2903433|REF_RGD_ID:6484661 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:1825 childhood absence epilepsy ISO RGD:2708 D RGD:9068941 20200609 RGD protein:increased expression:thalamus PMID:10975907|REF_RGD_ID:6484590 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:2018 hyperinsulinism ISO RGD:733213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:25741868|PMID:26467025|PMID:28492532 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:2316 brain ischemia ISO RGD:2708 D RGD:9068941 20200609 RGD protein:decreased activity:brain PMID:7808037|REF_RGD_ID:6484655 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:2708 D RGD:9068941 20200609 RGD PMID:18381650|REF_RGD_ID:6484554 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:3613 Canavan disease ISO RGD:1551567 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum, brain stem PMID:15016427|REF_RGD_ID:6484588 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:733213 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:885 fascioliasis ISO RGD:2708 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10431747|REF_RGD_ID:6484593 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:733213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19500843 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1551567 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:spinal cord PMID:9145307|REF_RGD_ID:6484657 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2708 D RGD:9068941 20200609 RGD protein:decreased activity:brain PMID:7808037|REF_RGD_ID:6484655 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733213 D RGD:9068941 20200609 RGD DNA:missense mutations: : PMID:9571255|REF_RGD_ID:1302513 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733213 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33483742 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:9008972 Hyperammonemia ISO RGD:733213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9571255 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:9351 diabetes mellitus ISO RGD:733213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 8834640 Glud1 glutamate dehydrogenase 1 gene DOID:9993 hypoglycemia ISO RGD:733213 D RGD:9068941 20200609 RGD familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A PMID:10636977|REF_RGD_ID:1601353 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0050902 medulloblastoma ISO RGD:1346700 D RGD:7240710 20240308 OMIM 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0050902 medulloblastoma ISO RGD:1346700 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:12068298|PMID:17102621|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:24651015|PMID:24728327|PMID:25326637|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:28717660|PMID:28873162|PMID:29186568|PMID:29641532|PMID:29753700|PMID:33024317|PMID:34056767|PMID:34675124|PMID:35768194|PMID:36825822 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0060071 pre-malignant neoplasm ISO RGD:1559462 D RGD:9068941 20220114 RGD mRNA:decreased expression:stomach mucosa (rat) PMID:30537251|REF_RGD_ID:150520178 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0070366 nevoid basal cell carcinoma syndrome 2 ISO RGD:1346700 D RGD:7240710 20240308 OMIM 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0070366 nevoid basal cell carcinoma syndrome 2 ISO RGD:1346700 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 PMID:12068298|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:25403219|PMID:25741868|PMID:28492532|PMID:29186568|PMID:29753700|PMID:33024317|PMID:34675124|PMID:35768194|PMID:36825822 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0080278 Joubert syndrome 32 ISO RGD:1346700 D RGD:7240710 20240308 OMIM 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0080278 Joubert syndrome 32 ISO RGD:1346700 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Joubert syndrome 32 PMID:16199547|PMID:22508808|PMID:25741868|PMID:27930734|PMID:28492532|PMID:28965847 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1346700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:10283 prostate cancer ISO RGD:1346700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:2120 focal dermal hypoplasia ISO RGD:1346700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gorlin-Goltz Syndrome PMID:12068298|PMID:19533801|PMID:21188540|PMID:25741868|PMID:28492532 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1346700 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:32278351|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:36825822|PMID:9536098 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1346700 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:32278351|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:9536098 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1346700 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:16199547|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:23265383|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25403219|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29356994|PMID:29489754|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:31639285|PMID:32278351|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:9536098 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:2513 basal cell carcinoma ISO RGD:1346700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme ISO RGD:1346700 D RGD:9068941 20220114 RGD human, rat, and/or mouse glioma cells in a mouse model PMID:30790292|REF_RGD_ID:150573813 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme ISO RGD:1556878 D RGD:9068941 20220114 RGD human, rat, and/or mouse glioma cells in a mouse model PMID:30790292|REF_RGD_ID:150573813 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:3073 brain glioblastoma multiforme ISO RGD:1559462 D RGD:9068941 20220114 RGD human, rat, and/or mouse glioma cells in a mouse model PMID:30790292|REF_RGD_ID:150573813 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:3840 craniopharyngioma ISO RGD:1346700 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:28492532|PMID:29641532 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:1346700 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma PMID:12068298 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:4586 familial meningioma ISO RGD:1346700 D RGD:7240710 20240308 OMIM 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:4586 familial meningioma ISO RGD:1346700 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27930734|PMID:28492532|PMID:28965847|PMID:29641532|PMID:29654263 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:4621 holoprosencephaly ISO RGD:1346700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microform holoprosencephaly PMID:24728327|PMID:27363716|PMID:28492532 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:630 genetic disease ISO RGD:1346700 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:8418 congenital fibrosarcoma ISO RGD:1346700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital fibrosarcoma 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346700 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346700 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12068298|PMID:17102621|PMID:17576681|PMID:21188540|PMID:22508808|PMID:23826113|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26184317|PMID:26467025|PMID:26580448|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28166811|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:9536098 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346700 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12068298|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:9536098 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346700 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12068298|PMID:17102621|PMID:17576681|PMID:19533801|PMID:19833601|PMID:21188540|PMID:22508808|PMID:22958902|PMID:23826113|PMID:24651015|PMID:24728327|PMID:25287320|PMID:25403219|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26677030|PMID:27363716|PMID:27793025|PMID:27930734|PMID:28050010|PMID:28492532|PMID:28717660|PMID:28873162|PMID:28965847|PMID:29186568|PMID:29641532|PMID:29654263|PMID:29753700|PMID:30256826|PMID:32295625|PMID:33024317|PMID:34056767|PMID:34589056|PMID:34675124|PMID:35768194|PMID:36825822|PMID:9536098 8834662 Sufu SUFU negative regulator of hedgehog signaling gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8834702 Ctsk cathepsin K gene DOID:0080038 pycnodysostosis ISO RGD:734172 D RGD:7240710 20180130 OMIM 8834702 Ctsk cathepsin K gene DOID:0080038 pycnodysostosis ISO RGD:734172 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pyknodysostosis PMID:10074491|PMID:10491211|PMID:10571690|PMID:10634420|PMID:10878663|PMID:11181082|PMID:12125807|PMID:12874701|PMID:15070910|PMID:16199547|PMID:17206399|PMID:17397052|PMID:19674475|PMID:20044043|PMID:20814951|PMID:21099701|PMID:21217630|PMID:21569238|PMID:22822386|PMID:23506830|PMID:23786531|PMID:24057333|PMID:24269275|PMID:24767306|PMID:25725806|PMID:25741868|PMID:26892377|PMID:27092432|PMID:27558267|PMID:28492532|PMID:29441215|PMID:29620724|PMID:29796728|PMID:30199612|PMID:31237352|PMID:31944631|PMID:33945887|PMID:33963797|PMID:7663522|PMID:8703060|PMID:8938428|PMID:9529353 8834702 Ctsk cathepsin K gene DOID:0111940 immunodeficiency 42 ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8834702 Ctsk cathepsin K gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8834702 Ctsk cathepsin K gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:734172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8834702 Ctsk cathepsin K gene DOID:10754 otitis media ISO RGD:61810 D RGD:9068941 20200609 RGD mRNA:decreased expression:middle ear PMID:15179208|REF_RGD_ID:1342442 8834702 Ctsk cathepsin K gene DOID:10941 intracranial aneurysm ISO RGD:61810 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 8834702 Ctsk cathepsin K gene DOID:10941 intracranial aneurysm ISO RGD:734172 D RGD:9068941 20200609 RGD protein:increased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 8834702 Ctsk cathepsin K gene DOID:11476 osteoporosis ISO RGD:62102 D RGD:9068941 20200609 RGD PMID:10469835|REF_RGD_ID:734856 8834702 Ctsk cathepsin K gene DOID:13533 osteopetrosis ISO RGD:62102 D RGD:9068941 20200609 RGD PMID:10469835|REF_RGD_ID:734856 8834702 Ctsk cathepsin K gene DOID:1540 parathyroid carcinoma ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8834702 Ctsk cathepsin K gene DOID:2256 osteochondrodysplasia ISO RGD:734172 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:24767306|PMID:25741868|PMID:28492532|PMID:31944631 8834702 Ctsk cathepsin K gene DOID:3068 glioblastoma ISO RGD:734172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25356585 8834702 Ctsk cathepsin K gene DOID:5812 MHC class II deficiency ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8834702 Ctsk cathepsin K gene DOID:630 genetic disease ISO RGD:734172 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10074491|PMID:17397052|PMID:20044043|PMID:20814951|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:8703060|PMID:9529353 8834702 Ctsk cathepsin K gene DOID:8398 osteoarthritis ISO RGD:734172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 8834702 Ctsk cathepsin K gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:61810 D RGD:9068941 20230720 RGD associated with hypertension, periodontal disease PMID:33364953|REF_RGD_ID:329956421 8834702 Ctsk cathepsin K gene DOID:9002457 Experimental Arthritis ISO RGD:61810 D RGD:9068941 20200609 RGD mRNA:increased expression:synovium, bone marrow PMID:15353610|REF_RGD_ID:1601025 8834702 Ctsk cathepsin K gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8834714 Cpa2 carboxypeptidase A2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8834714 Cpa2 carboxypeptidase A2 gene DOID:630 genetic disease ISO RGD:1313664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834714 Cpa2 carboxypeptidase A2 gene DOID:9002669 Hypoxia ISO RGD:1313664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 8834743 Hlf HLF transcription factor, PAR bZIP family member gene DOID:10283 prostate cancer ISO RGD:1347027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8834743 Hlf HLF transcription factor, PAR bZIP family member gene DOID:10534 stomach cancer severity ISO RGD:1347027 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 8834743 Hlf HLF transcription factor, PAR bZIP family member gene DOID:630 genetic disease ISO RGD:1347027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834743 Hlf HLF transcription factor, PAR bZIP family member gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214592 8834753 Dgkk diacylglycerol kinase kappa gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8834753 Dgkk diacylglycerol kinase kappa gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8834753 Dgkk diacylglycerol kinase kappa gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8834753 Dgkk diacylglycerol kinase kappa gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8834753 Dgkk diacylglycerol kinase kappa gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8834753 Dgkk diacylglycerol kinase kappa gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1603361 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 8834753 Dgkk diacylglycerol kinase kappa gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1603361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8834753 Dgkk diacylglycerol kinase kappa gene DOID:10892 hypospadias ISO RGD:1603361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21113153|PMID:27098078 8834753 Dgkk diacylglycerol kinase kappa gene DOID:12849 autistic disorder ISO RGD:1603361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8834753 Dgkk diacylglycerol kinase kappa gene DOID:630 genetic disease ISO RGD:1603361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834784 Mia3 MIA SH3 domain ER export factor 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8834784 Mia3 MIA SH3 domain ER export factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1605216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8834784 Mia3 MIA SH3 domain ER export factor 3 gene DOID:3393 coronary artery disease ISO RGD:1605216 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868 8834784 Mia3 MIA SH3 domain ER export factor 3 gene DOID:5844 myocardial infarction ISO RGD:1605216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198609 8834784 Mia3 MIA SH3 domain ER export factor 3 gene DOID:630 genetic disease ISO RGD:1605216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834784 Mia3 MIA SH3 domain ER export factor 3 gene DOID:9002545 Odontochondrodysplasia 2 with Hearing Loss and Diabetes ISO RGD:1605216 D RGD:7240710 20210414 OMIM 8834784 Mia3 MIA SH3 domain ER export factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia ISO RGD:69084 D RGD:7240710 20180130 OMIM 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia ISO RGD:69084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia PMID:12161499|PMID:20488225|PMID:22791757|PMID:25052309|PMID:25741868|PMID:28392474|PMID:28492532|PMID:32242295|PMID:4344039|PMID:8220432|PMID:9271483|PMID:9280841|PMID:9624193|PMID:9806482 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:1059 intellectual disability ISO RGD:69084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:12336 male infertility ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:387166 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:13938 amenorrhea ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8220432 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:13938 amenorrhea ISO RGD:69084 D RGD:9068941 20200609 RGD follicle-stimulating hormone deficiency,OMIM:229070;DNA:frameshift PMID:8220432|REF_RGD_ID:1601221 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:14228 oligospermia ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4607150 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:1574 alcohol use disorder ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8590623 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:1924 hypogonadism ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18449926|PMID:24739304|PMID:8263139 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:69084 D RGD:9068941 20200609 RGD protein:increased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:3522 lateral medullary syndrome ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17344003 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:630 genetic disease ISO RGD:69084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:9000972 Fever ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8834818 Fshb follicle stimulating hormone subunit beta gene DOID:9007456 Female Infertility ISO RGD:69084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8220432 8834822 Slc16a5 solute carrier family 16 member 5 gene DOID:630 genetic disease ISO RGD:1351583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834839 Ppp1r14a protein phosphatase 1 regulatory inhibitor subunit 14A gene DOID:10534 stomach cancer severity ISO RGD:733523 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 8834839 Ppp1r14a protein phosphatase 1 regulatory inhibitor subunit 14A gene DOID:630 genetic disease ISO RGD:733523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834839 Ppp1r14a protein phosphatase 1 regulatory inhibitor subunit 14A gene DOID:9003566 Mesothelioma ISO RGD:733523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18835652 8834839 Ppp1r14a protein phosphatase 1 regulatory inhibitor subunit 14A gene DOID:9008443 Colorectal Neoplasms ISO RGD:733523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1347407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1347407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:10283 prostate cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:10534 stomach cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:11054 urinary bladder cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:1107 esophageal carcinoma exacerbates ISO RGD:1347407 D RGD:9068941 20221020 RGD mRNA:decreased expression:espohagus (human) PMID:32831056|REF_RGD_ID:155630592 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:1612 breast cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:1612 breast cancer exacerbates ISO RGD:1557151 D RGD:9068941 20220923 RGD PMID:21317887|REF_RGD_ID:155249848 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:219 colon cancer ISO RGD:1347407 D RGD:9068941 20220922 RGD mRNA:splice variant:exon 2: (human) PMID:32601196|REF_RGD_ID:155230826 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:234 colon adenocarcinoma ISO RGD:1347407 D RGD:9068941 20221020 RGD human cell line and gene in a mouse model PMID:18436711|REF_RGD_ID:155630593 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:2596 larynx cancer ameliorates ISO RGD:1347407 D RGD:9068941 20220923 RGD mRNA:increased expression:larynx (human) PMID:32791689|REF_RGD_ID:155256869 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:3905 lung carcinoma exacerbates ISO RGD:1347407 D RGD:9068941 20220923 RGD DNA:missense mutation:CDS:p.E116K (human) PMID:27028764|REF_RGD_ID:11529413 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1557151 D RGD:9068941 20220923 RGD mRNA:decreased expression:lung (human) PMID:31089135|REF_RGD_ID:155253742 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1557151 D RGD:9068941 20220923 RGD PMID:21317887|REF_RGD_ID:155249848 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1347407 D RGD:9068941 20220922 RGD DNA:SNP:3' utr: (rs3679) (human) PMID:27861856|REF_RGD_ID:155230827 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1347407 D RGD:9068941 20220922 RGD human gene in a mouse model PMID:34236045|REF_RGD_ID:155230828 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:5419 schizophrenia ISO RGD:1557151 D RGD:9068941 20220825 MouseDO OMIM:181500 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:6000 congestive heart failure ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21284947 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:630 genetic disease ISO RGD:1347407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:769 neuroblastoma ISO RGD:1347407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:8634 prostate carcinoma in situ disease_progression ISO RGD:1347407 D RGD:9068941 20200609 RGD protein:increased expression PMID:17577251|REF_RGD_ID:2293334 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:9000784 Fibrosis ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21284947 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347407 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1557151 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001) PMID:17577251|REF_RGD_ID:2293334 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1557151 D RGD:9068941 20200609 RGD expression inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system PMID:16322247|REF_RGD_ID:2293337 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:9002762 Ovarian Neoplasms no_association ISO RGD:1557151 D RGD:9068941 20200609 RGD expression has no effect on metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system PMID:16489030|REF_RGD_ID:2293338 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:9006618 Liver Metastasis ISO RGD:1347407 D RGD:9068941 20220923 RGD associated with colon cancer;protein:increased expression:colon (human) PMID:24533778|REF_RGD_ID:155259116 8834847 Map2k7 mitogen-activated protein kinase kinase 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1347407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 8834866 Ivd isovaleryl-CoA dehydrogenase gene DOID:14753 isovaleric acidemia ISO RGD:735606 D RGD:7240710 20180130 OMIM 8834866 Ivd isovaleryl-CoA dehydrogenase gene DOID:14753 isovaleric acidemia ISO RGD:735606 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Isovaleric acidemia, type I | ClinVar Annotator: match by term: Isovaleric acidemia, type II | ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:10677295|PMID:10713113|PMID:110677295|PMID:12767731|PMID:1310317|PMID:15337167|PMID:15486829|PMID:16199547|PMID:16602101|PMID:16825284|PMID:17001642|PMID:17027310|PMID:17576084|PMID:17576681|PMID:19089597|PMID:19099814|PMID:20519759|PMID:2063866|PMID:22004070|PMID:22350545|PMID:22960500|PMID:2318964|PMID:24019846|PMID:24059531|PMID:24516753|PMID:24637313|PMID:25220015|PMID:25741868|PMID:26018748|PMID:26589311|PMID:26937393|PMID:26990548|PMID:27629047|PMID:27904153|PMID:28492532|PMID:28535199|PMID:28631226|PMID:29402417|PMID:30159853|PMID:30838026|PMID:30904546|PMID:31442447|PMID:31589614|PMID:31707166|PMID:32505769|PMID:32778825|PMID:32977617|PMID:33123633|PMID:33496032|PMID:33521113|PMID:33565069|PMID:34394177|PMID:34535384|PMID:35095998|PMID:35782626|PMID:9536098|PMID:9665741 8834866 Ivd isovaleryl-CoA dehydrogenase gene DOID:2717 Bloom syndrome ISO RGD:735606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8834866 Ivd isovaleryl-CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:735606 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10677295|PMID:15337167|PMID:15486829|PMID:16199547|PMID:16602101|PMID:17027310|PMID:17576084|PMID:19099814|PMID:22960500|PMID:24059531|PMID:24516753|PMID:25220015|PMID:25741868|PMID:26589311|PMID:26937393|PMID:27904153|PMID:28492532|PMID:28535199|PMID:31442447|PMID:31707166|PMID:32778825|PMID:32977617|PMID:33123633|PMID:33496032|PMID:33521113|PMID:9665741 8834866 Ivd isovaleryl-CoA dehydrogenase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8834866 Ivd isovaleryl-CoA dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:735606 D RGD:9068941 20200609 RGD isovaleric acidemia, OMIM:243500 PMID:2063866|REF_RGD_ID:1600039 8834866 Ivd isovaleryl-CoA dehydrogenase gene DOID:9256 colorectal cancer ISO RGD:735606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8834882 Ptpn4 protein tyrosine phosphatase non-receptor type 4 gene DOID:1059 intellectual disability ISO RGD:1316480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8834882 Ptpn4 protein tyrosine phosphatase non-receptor type 4 gene DOID:12849 autistic disorder ISO RGD:1316480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8834882 Ptpn4 protein tyrosine phosphatase non-receptor type 4 gene DOID:630 genetic disease ISO RGD:1316480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834882 Ptpn4 protein tyrosine phosphatase non-receptor type 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316480 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34527963 8834918 Nanos1 nanos C2HC-type zinc finger 1 gene DOID:0070171 spermatogenic failure 12 ISO RGD:1317831 D RGD:7240710 20180130 OMIM 8834918 Nanos1 nanos C2HC-type zinc finger 1 gene DOID:1790 malignant mesothelioma ISO RGD:1317831 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8834918 Nanos1 nanos C2HC-type zinc finger 1 gene DOID:630 genetic disease ISO RGD:1317831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834922 Dmpk DM1 protein kinase gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1320371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 8834922 Dmpk DM1 protein kinase gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1320371 D RGD:7240710 20180130 OMIM 8834922 Dmpk DM1 protein kinase gene DOID:11722 myotonic dystrophy type 1 ISO RGD:1320371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myotonia atrophica | ClinVar Annotator: match by term: Steinert myotonic dystrophy syndrome PMID:18414213|PMID:25637381|PMID:25741868 8834922 Dmpk DM1 protein kinase gene DOID:3490 Noonan syndrome ISO RGD:1320371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8834922 Dmpk DM1 protein kinase gene DOID:450 myotonic disease ISO RGD:1320371 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:24039817|PMID:27030674 8834922 Dmpk DM1 protein kinase gene DOID:630 genetic disease ISO RGD:1320371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8834922 Dmpk DM1 protein kinase gene DOID:9008993 Myotonia ISO RGD:1320371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039817 8834957 Bnc2 basonuclin zinc finger protein 2 gene DOID:2187 amelogenesis imperfecta ISO RGD:1321747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 8834957 Bnc2 basonuclin zinc finger protein 2 gene DOID:630 genetic disease ISO RGD:1321747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8834957 Bnc2 basonuclin zinc finger protein 2 gene DOID:674 cleft palate ISO RGD:1321747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706529 8834957 Bnc2 basonuclin zinc finger protein 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 8834957 Bnc2 basonuclin zinc finger protein 2 gene DOID:9006024 Hypotension ISO RGD:1321747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotension PMID:24033266|PMID:28492532 8834957 Bnc2 basonuclin zinc finger protein 2 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1321747 D RGD:7240710 20191113 OMIM 8834957 Bnc2 basonuclin zinc finger protein 2 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1321747 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:25741868|PMID:28492532|PMID:31051115 8834957 Bnc2 basonuclin zinc finger protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706529 8834985 Ppil1 peptidylprolyl isomerase like 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1319281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8834985 Ppil1 peptidylprolyl isomerase like 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1319281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia PMID:24033266|PMID:33220177 8834985 Ppil1 peptidylprolyl isomerase like 1 gene DOID:0112325 pontocerebellar hypoplasia type 14 ISO RGD:1319281 D RGD:7240710 20210505 OMIM 8834985 Ppil1 peptidylprolyl isomerase like 1 gene DOID:0112325 pontocerebellar hypoplasia type 14 ISO RGD:1319281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 14 PMID:24033266|PMID:25741868|PMID:33220177 8834985 Ppil1 peptidylprolyl isomerase like 1 gene DOID:10907 microcephaly ISO RGD:1319282 D RGD:9068941 20220825 MouseDO 8834985 Ppil1 peptidylprolyl isomerase like 1 gene DOID:630 genetic disease ISO RGD:1319281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8834985 Ppil1 peptidylprolyl isomerase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24033266|PMID:33220177 8835000 Eno1 enolase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:735808 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8835000 Eno1 enolase 1 gene DOID:0080600 COVID-19 ISO RGD:735808 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8835000 Eno1 enolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 8835000 Eno1 enolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735808 D RGD:9068941 20200609 RGD protein:increased S-glutathionylation, decreased activity:inferior parietal cortex PMID:17387692|REF_RGD_ID:13792613 8835000 Eno1 enolase 1 gene DOID:10763 hypertension ISO RGD:2553 D RGD:9068941 20200609 RGD PMID:16485256|REF_RGD_ID:1598909 8835000 Eno1 enolase 1 gene DOID:11476 osteoporosis ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8835000 Eno1 enolase 1 gene DOID:12336 male infertility ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27460355 8835000 Eno1 enolase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8835000 Eno1 enolase 1 gene DOID:299 adenocarcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8835000 Eno1 enolase 1 gene DOID:305 carcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8835000 Eno1 enolase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 8835000 Eno1 enolase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893|PMID:27602772 8835000 Eno1 enolase 1 gene DOID:630 genetic disease ISO RGD:735808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835000 Eno1 enolase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8835000 Eno1 enolase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898480 8835000 Eno1 enolase 1 gene DOID:8398 osteoarthritis ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8835000 Eno1 enolase 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 8835000 Eno1 enolase 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8835000 Eno1 enolase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8835000 Eno1 enolase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8835000 Eno1 enolase 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8835000 Eno1 enolase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8835000 Eno1 enolase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 8835000 Eno1 enolase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8835000 Eno1 enolase 1 gene DOID:9006205 Animal Disease Models ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8835000 Eno1 enolase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8835000 Eno1 enolase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942|PMID:25231249 8835000 Eno1 enolase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19655245 8835037 Efl1 elongation factor like GTPase 1 gene DOID:2717 Bloom syndrome ISO RGD:1352796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8835037 Efl1 elongation factor like GTPase 1 gene DOID:3070 high grade glioma ISO RGD:1352796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25015090 8835037 Efl1 elongation factor like GTPase 1 gene DOID:630 genetic disease ISO RGD:1352796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31151987 8835037 Efl1 elongation factor like GTPase 1 gene DOID:9009168 Shwachman-Diamond Syndrome 2 ISO RGD:1352796 D RGD:7240710 20190315 OMIM 8835037 Efl1 elongation factor like GTPase 1 gene DOID:9009168 Shwachman-Diamond Syndrome 2 ISO RGD:1352796 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 2 PMID:25741868|PMID:28331068|PMID:28492532|PMID:29970384|PMID:31151987|PMID:34115847 8835037 Efl1 elongation factor like GTPase 1 gene DOID:9256 colorectal cancer ISO RGD:1352796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8835072 Chga chromogranin A gene DOID:0050771 pheochromocytoma ISO RGD:730836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11116123 8835072 Chga chromogranin A gene DOID:0050771 pheochromocytoma disease_progression ISO RGD:730836 D RGD:9068941 20200609 RGD PMID:2189303|REF_RGD_ID:6906907 8835072 Chga chromogranin A gene DOID:0080054 achondrogenesis type IA ISO RGD:730836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8835072 Chga chromogranin A gene DOID:10283 prostate cancer susceptibility ISO RGD:730836 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E264D (human) PMID:20663522|REF_RGD_ID:6906901 8835072 Chga chromogranin A gene DOID:10763 hypertension ISO RGD:10339 D RGD:9068941 20200609 RGD PMID:20729505|REF_RGD_ID:6906900 8835072 Chga chromogranin A gene DOID:10763 hypertension ISO RGD:10339 D RGD:9068941 20200609 RGD protein:creased expression:adrenal gland PMID:10803489|REF_RGD_ID:6907055 8835072 Chga chromogranin A gene DOID:10763 hypertension ISO RGD:2338 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adrenal gland medulla, plasma PMID:10803489|REF_RGD_ID:6907055 8835072 Chga chromogranin A gene DOID:10763 hypertension ISO RGD:730836 D RGD:9068941 20200609 RGD PMID:21061160|REF_RGD_ID:6906897 8835072 Chga chromogranin A gene DOID:10763 hypertension no_association ISO RGD:730836 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter PMID:20113265|REF_RGD_ID:6906902 8835072 Chga chromogranin A gene DOID:2986 IgA glomerulonephritis ISO RGD:730836 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human) PMID:20113265|REF_RGD_ID:6906902 8835072 Chga chromogranin A gene DOID:3908 lung non-small cell carcinoma ISO RGD:730836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21595568 8835072 Chga chromogranin A gene DOID:630 genetic disease ISO RGD:730836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835072 Chga chromogranin A gene DOID:783 end stage renal disease ISO RGD:730836 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphisms, haplotypes:promoter, 3' utr:multiple PMID:18235090|REF_RGD_ID:6906903 8835072 Chga chromogranin A gene DOID:783 end stage renal disease ISO RGD:730836 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20730520|REF_RGD_ID:6906898 8835092 Slc25a3 solute carrier family 25 member 3 gene DOID:630 genetic disease ISO RGD:732727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8835092 Slc25a3 solute carrier family 25 member 3 gene DOID:9006387 Mitochondrial Phosphate Carrier Deficiency ISO RGD:732727 D RGD:7240710 20180130 OMIM 8835092 Slc25a3 solute carrier family 25 member 3 gene DOID:9006387 Mitochondrial Phosphate Carrier Deficiency ISO RGD:732727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial phosphate carrier deficiency PMID:17273968|PMID:17576681|PMID:21763135|PMID:25681081|PMID:25741868|PMID:28492532|PMID:9536098 8835135 Atf4 activating transcription factor 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8835135 Atf4 activating transcription factor 4 gene DOID:0060478 Zika fever ISO RGD:733713 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 8835135 Atf4 activating transcription factor 4 gene DOID:10286 prostate carcinoma treatment ISO RGD:733712 D RGD:9068941 20200609 RGD PMID:25680860|REF_RGD_ID:13504680 8835135 Atf4 activating transcription factor 4 gene DOID:11132 prostatic hypertrophy ISO RGD:733713 D RGD:9068941 20200609 RGD PMID:28988820|REF_RGD_ID:13504679 8835135 Atf4 activating transcription factor 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 8835135 Atf4 activating transcription factor 4 gene DOID:5154 borna disease ISO RGD:621863 D RGD:9068941 20200702 RGD protein:increased expression:cerebellum PMID:16912310|REF_RGD_ID:32733622 8835135 Atf4 activating transcription factor 4 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:621863 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 8835135 Atf4 activating transcription factor 4 gene DOID:630 genetic disease ISO RGD:733712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835135 Atf4 activating transcription factor 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 8835135 Atf4 activating transcription factor 4 gene DOID:9002669 Hypoxia ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 8835135 Atf4 activating transcription factor 4 gene DOID:9005749 Necrosis ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 8835135 Atf4 activating transcription factor 4 gene DOID:9452 steatotic liver disease ISO RGD:733712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 8835147 Trpv6 transient receptor potential cation channel subfamily V member 6 gene DOID:10591 pre-eclampsia ISO RGD:731367 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8835147 Trpv6 transient receptor potential cation channel subfamily V member 6 gene DOID:11612 polycystic ovary syndrome ISO RGD:731367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8835147 Trpv6 transient receptor potential cation channel subfamily V member 6 gene DOID:11714 gestational diabetes ISO RGD:731367 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8835147 Trpv6 transient receptor potential cation channel subfamily V member 6 gene DOID:13543 hyperparathyroidism ISO RGD:731367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:25741868|PMID:30144375 8835147 Trpv6 transient receptor potential cation channel subfamily V member 6 gene DOID:630 genetic disease ISO RGD:731367 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31930989|PMID:34923708 8835147 Trpv6 transient receptor potential cation channel subfamily V member 6 gene DOID:9004047 Transient Neonatal Hyperparathyroidism ISO RGD:731367 D RGD:7240710 20190315 OMIM 8835147 Trpv6 transient receptor potential cation channel subfamily V member 6 gene DOID:9004047 Transient Neonatal Hyperparathyroidism ISO RGD:731367 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism, transient neonatal PMID:25741868|PMID:25741888|PMID:27296226|PMID:28492532|PMID:28878326|PMID:29068549|PMID:29258289|PMID:29861107|PMID:30820485|PMID:31930989|PMID:32383311|PMID:36599151 8835166 Krtcap3 keratinocyte associated protein 3 gene DOID:0081009 Bardet-Biedl syndrome 20 ISO RGD:1342898 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 PMID:25168386|PMID:25741868|PMID:28492532 8835166 Krtcap3 keratinocyte associated protein 3 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:1342898 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:11030072|PMID:16199547|PMID:17576681|PMID:24140113|PMID:25664603|PMID:25741868|PMID:28492532|PMID:33393400|PMID:34906470|PMID:9536098 8835166 Krtcap3 keratinocyte associated protein 3 gene DOID:0110363 retinitis pigmentosa 71 ISO RGD:1342898 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 71 PMID:17576681|PMID:25168386|PMID:25741868|PMID:28492532|PMID:9536098 8835166 Krtcap3 keratinocyte associated protein 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1342898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8835166 Krtcap3 keratinocyte associated protein 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1342898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8835166 Krtcap3 keratinocyte associated protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1342898 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11030072|PMID:24140113|PMID:25664603|PMID:25741868|PMID:28492532|PMID:34906470 8835166 Krtcap3 keratinocyte associated protein 3 gene DOID:630 genetic disease ISO RGD:1342898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8835181 Cenpb centromere protein B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1312443 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8835181 Cenpb centromere protein B gene DOID:12236 primary biliary cholangitis ISO RGD:1312443 D RGD:9068941 20200609 RGD PMID:8911074|REF_RGD_ID:27226708 8835181 Cenpb centromere protein B gene DOID:2952 inner ear disease ISO RGD:1312443 D RGD:9068941 20200609 RGD associated with limited scleroderma PMID:18520322|REF_RGD_ID:27226707 8835181 Cenpb centromere protein B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1312443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8835181 Cenpb centromere protein B gene DOID:630 genetic disease ISO RGD:1312443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835181 Cenpb centromere protein B gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1312443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8835185 Azin2 antizyme inhibitor 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8835185 Azin2 antizyme inhibitor 2 gene DOID:630 genetic disease ISO RGD:1606188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835204 Efnb3 ephrin B3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8835204 Efnb3 ephrin B3 gene DOID:12177 common variable immunodeficiency ISO RGD:1346330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8835204 Efnb3 ephrin B3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346330 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8835204 Efnb3 ephrin B3 gene DOID:2729 dyskeratosis congenita ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8835204 Efnb3 ephrin B3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1346330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8835204 Efnb3 ephrin B3 gene DOID:480 movement disease ISO RGD:10509 D RGD:9068941 20220825 MouseDO 8835204 Efnb3 ephrin B3 gene DOID:630 genetic disease ISO RGD:1346330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835217 Th tyrosine hydroxylase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:733897 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:27635400|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:33953728|PMID:35083481 8835217 Th tyrosine hydroxylase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8835217 Th tyrosine hydroxylase gene DOID:0050771 pheochromocytoma ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 8835217 Th tyrosine hydroxylase gene DOID:0050835 generalized dystonia ISO RGD:733897 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized dystonia PMID:22572540|PMID:24275212|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30455893|PMID:35083481 8835217 Th tyrosine hydroxylase gene DOID:0060001 withdrawal disorder ISO RGD:3853 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:brainstem (rat) PMID:20973778|REF_RGD_ID:5128830 8835217 Th tyrosine hydroxylase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733897 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:22572540|PMID:24275212|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:27635400|PMID:28492532|PMID:30455893|PMID:30456822|PMID:33206859|PMID:33953728|PMID:35083481 8835217 Th tyrosine hydroxylase gene DOID:0080773 delta beta-thalassemia ISO RGD:733897 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8835217 Th tyrosine hydroxylase gene DOID:0080855 Parkinsonism ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:20561938|REF_RGD_ID:13524532 8835217 Th tyrosine hydroxylase gene DOID:0080855 Parkinsonism ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11246459|PMID:8817341 8835217 Th tyrosine hydroxylase gene DOID:0080855 Parkinsonism susceptibility ISO RGD:733897 D RGD:9068941 20200609 RGD Segawa syndrome,autosomal recessive, OMIM:605407;DNA:missense mutation:exon:p.Q381L PMID:7814018|REF_RGD_ID:1601634 8835217 Th tyrosine hydroxylase gene DOID:0080855 Parkinsonism treatment ISO RGD:733897 D RGD:9068941 20230803 RGD PMID:23831692|REF_RGD_ID:401700381 8835217 Th tyrosine hydroxylase gene DOID:0090043 dystonia 5 ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:18554280|PMID:20056467|PMID:24753243|PMID:25741868|PMID:28087438|PMID:28492532|PMID:29405179|PMID:32185155 8835217 Th tyrosine hydroxylase gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:733897 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:18162506|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822|PMID:33953728 8835217 Th tyrosine hydroxylase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733897 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 8835217 Th tyrosine hydroxylase gene DOID:0111108 maturity-onset diabetes of the young type 10 ISO RGD:733897 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 PMID:11921414|PMID:12610512|PMID:18162506|PMID:18171712|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:27635400|PMID:28492532|PMID:30456822|PMID:33206859|PMID:33953728 8835217 Th tyrosine hydroxylase gene DOID:0111969 immunodeficiency 39 ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8835217 Th tyrosine hydroxylase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8835217 Th tyrosine hydroxylase gene DOID:1059 intellectual disability ISO RGD:11414 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cerebral cortex (mouse) PMID:18823370|REF_RGD_ID:2311578 8835217 Th tyrosine hydroxylase gene DOID:1059 intellectual disability ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8835217 Th tyrosine hydroxylase gene DOID:10762 portal hypertension ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:19968782|REF_RGD_ID:5129480 8835217 Th tyrosine hydroxylase gene DOID:10763 hypertension ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16650497|REF_RGD_ID:1601630 8835217 Th tyrosine hydroxylase gene DOID:10763 hypertension ISO RGD:733897 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:32147540|PMID:32165127 8835217 Th tyrosine hydroxylase gene DOID:10763 hypertension susceptibility ISO RGD:733897 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.1090T>C rs2070762 (human) PMID:16636198|REF_RGD_ID:1601631 8835217 Th tyrosine hydroxylase gene DOID:10825 essential hypertension ISO RGD:733897 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 8835217 Th tyrosine hydroxylase gene DOID:114 heart disease ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9822156 8835217 Th tyrosine hydroxylase gene DOID:11612 polycystic ovary syndrome ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 8835217 Th tyrosine hydroxylase gene DOID:11717 neonatal diabetes ISO RGD:733897 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:25741868|PMID:27635400 8835217 Th tyrosine hydroxylase gene DOID:12217 Lewy body dementia ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 8835217 Th tyrosine hydroxylase gene DOID:12700 hyperprolactinemia ISO RGD:3853 D RGD:9068941 20200609 RGD protein:increased tyrosine nitration:hypothalamus, median eminence (rat) PMID:21178126|REF_RGD_ID:5128768 8835217 Th tyrosine hydroxylase gene DOID:12700 hyperprolactinemia treatment ISO RGD:3853 D RGD:9068941 20200609 RGD PMID:26297122|REF_RGD_ID:13506955 8835217 Th tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:11414 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra (mouse) PMID:21323909|REF_RGD_ID:5128616 8835217 Th tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:3853 D RGD:9068941 20200609 RGD PMID:2573072|REF_RGD_ID:5129120 8835217 Th tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:midbrain, neuron (rat) PMID:21376343|REF_RGD_ID:5128607 8835217 Th tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 8835217 Th tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:733897 D RGD:9068941 20200609 RGD human gene in a rat model PMID:9853519|REF_RGD_ID:5129121 8835217 Th tyrosine hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:733897 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (human) PMID:15857400|REF_RGD_ID:2289955 8835217 Th tyrosine hydroxylase gene DOID:1440 Machado-Joseph disease ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra (rat) PMID:18385100|REF_RGD_ID:5131159 8835217 Th tyrosine hydroxylase gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:733897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8835217 Th tyrosine hydroxylase gene DOID:1596 depressive disorder ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:24495952|REF_RGD_ID:9681459 8835217 Th tyrosine hydroxylase gene DOID:1826 epilepsy ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased activity:cerebral cortex (rat) PMID:19605093|REF_RGD_ID:5128800 8835217 Th tyrosine hydroxylase gene DOID:2316 brain ischemia ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:solitary tract nucleus, medulla oblongata, locus coeruleus (rat) PMID:18356740|REF_RGD_ID:5129691 8835217 Th tyrosine hydroxylase gene DOID:3525 middle cerebral artery infarction ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra pars compacta, neuron (rat) PMID:21366664|REF_RGD_ID:5128609 8835217 Th tyrosine hydroxylase gene DOID:4676 uremia ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased activity:brain (rat) PMID:2875142|REF_RGD_ID:5128603 8835217 Th tyrosine hydroxylase gene DOID:543 dystonia ISO RGD:733897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder PMID:10407773|PMID:11160968|PMID:11246459|PMID:15468323|PMID:16199547|PMID:17576681|PMID:17696123|PMID:20399390|PMID:20430833|PMID:20823027|PMID:21465550|PMID:21940685|PMID:22264700|PMID:23939262|PMID:24753243|PMID:25741868|PMID:26220941|PMID:26276013|PMID:26467025|PMID:27185167|PMID:27619486|PMID:28492532|PMID:29225908|PMID:29724574|PMID:29801903|PMID:32185155|PMID:33072517|PMID:34054692|PMID:7814018|PMID:8528210|PMID:8817341|PMID:9235905|PMID:9536098|PMID:9703425 8835217 Th tyrosine hydroxylase gene DOID:543 dystonia ISO RGD:733897 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:10407773|PMID:11160968|PMID:11246459|PMID:15468323|PMID:16199547|PMID:17576681|PMID:17696123|PMID:20399390|PMID:20430833|PMID:20823027|PMID:22264700|PMID:24753243|PMID:25741868|PMID:26220941|PMID:27185167|PMID:28492532|PMID:29225908|PMID:29724574|PMID:32185155|PMID:33072517|PMID:34054692|PMID:7814018|PMID:8528210|PMID:8817341|PMID:9536098|PMID:9703425 8835217 Th tyrosine hydroxylase gene DOID:5844 myocardial infarction no_association ISO RGD:733897 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.1170_1173dupTCAT (human) PMID:16139102|REF_RGD_ID:1580048 8835217 Th tyrosine hydroxylase gene DOID:6000 congestive heart failure ISO RGD:11414 D RGD:9068941 20200609 RGD PMID:7715703|REF_RGD_ID:737737 8835217 Th tyrosine hydroxylase gene DOID:6000 congestive heart failure ISO RGD:3853 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular thalamic nucleus (rat) PMID:21287352|REF_RGD_ID:5128674 8835217 Th tyrosine hydroxylase gene DOID:630 genetic disease ISO RGD:733897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11160968|PMID:11246459|PMID:15468323|PMID:17696123|PMID:20399390|PMID:20430833|PMID:22264700|PMID:24753243|PMID:25741868|PMID:28492532|PMID:29225908|PMID:29724574|PMID:33072517|PMID:34054692 8835217 Th tyrosine hydroxylase gene DOID:684 hepatocellular carcinoma ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8835217 Th tyrosine hydroxylase gene DOID:769 neuroblastoma ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 8835217 Th tyrosine hydroxylase gene DOID:8927 learning disability ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10984662|PMID:9822156 8835217 Th tyrosine hydroxylase gene DOID:9000998 Brain Injuries ISO RGD:3853 D RGD:9068941 20200609 RGD protein:decreased activity:striatum (rat) PMID:21047500|REF_RGD_ID:5128822 8835217 Th tyrosine hydroxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:18457899|REF_RGD_ID:5129683 8835217 Th tyrosine hydroxylase gene DOID:9002188 Hypoinsulinemia ISO RGD:733897 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12610512|PMID:25741868|PMID:26467025|PMID:33206859 8835217 Th tyrosine hydroxylase gene DOID:9002362 Hyperkinesis ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9822156 8835217 Th tyrosine hydroxylase gene DOID:9002955 Nerve Degeneration ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12871582 8835217 Th tyrosine hydroxylase gene DOID:9003282 Hyperproinsulinemia ISO RGD:733897 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hyperproinsulinemia PMID:25741868|PMID:33953728 8835217 Th tyrosine hydroxylase gene DOID:9003805 Catalepsy ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10984662|PMID:9822156 8835217 Th tyrosine hydroxylase gene DOID:9004009 Reperfusion Injury ISO RGD:733897 D RGD:9068941 20200609 RGD protein:increased expression:medulla oblongata (human) PMID:21061149|REF_RGD_ID:5128821 8835217 Th tyrosine hydroxylase gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733897 D RGD:7240710 20180130 OMIM 8835217 Th tyrosine hydroxylase gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:733897 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:10407773|PMID:10585338|PMID:10753262|PMID:11160968|PMID:11246459|PMID:11281275|PMID:11921414|PMID:12610512|PMID:12891655|PMID:15468323|PMID:15505183|PMID:15747353|PMID:16049992|PMID:16199547|PMID:16376043|PMID:16643317|PMID:17576681|PMID:17696123|PMID:17698383|PMID:17698732|PMID:18058633|PMID:18162506|PMID:18171712|PMID:18554280|PMID:19120120|PMID:19224593|PMID:19282209|PMID:19491146|PMID:20056467|PMID:2019643|PMID:20198643|PMID:20301610|PMID:20399390|PMID:20430833|PMID:20492352|PMID:20809526|PMID:20823027|PMID:21465550|PMID:21937992|PMID:22264700|PMID:22572540|PMID:22583432|PMID:22815559|PMID:23480488|PMID:23762320|PMID:23939262|PMID:24033266|PMID:24275212|PMID:24753243|PMID:25181484|PMID:25224241|PMID:25542748|PMID:25741868|PMID:25758715|PMID:25910213|PMID:26101329|PMID:26220941|PMID:26276013|PMID:26467025|PMID:26686676|PMID:27165006|PMID:27185167|PMID:27619486|PMID:27635400|PMID:27934587|PMID:27973928|PMID:28087438|PMID:28186668|PMID:28492532|PMID:28667724|PMID:28726809|PMID:29126763|PMID:29225908|PMID:29405179|PMID:29724574|PMID:29801903|PMID:30109838|PMID:30455893|PMID:30456822|PMID:31130284|PMID:31273557|PMID:31392251|PMID:32005694|PMID:32018151|PMID:32185155|PMID:32395404|PMID:32872068|PMID:33072517|PMID:33206859|PMID:33233562|PMID:33742171|PMID:33953728|PMID:34054692|PMID:35083481|PMID:7789962|PMID:7814018|PMID:7910484|PMID:7964718|PMID:8528210|PMID:8817341|PMID:9235905|PMID:9536098|PMID:9703425|PMID:9732974|PMID:9754624 8835217 Th tyrosine hydroxylase gene DOID:9004407 Permanent Neonatal Diabetes Mellitus 4 ISO RGD:733897 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4 PMID:25741868|PMID:27635400|PMID:33953728 8835217 Th tyrosine hydroxylase gene DOID:9005166 Contusions ISO RGD:3853 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:18987458|REF_RGD_ID:5129532 8835217 Th tyrosine hydroxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3853 D RGD:9068941 20200609 RGD protein:increased expression:seminal vesicle PMID:17151307|REF_RGD_ID:1601629 8835217 Th tyrosine hydroxylase gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:733897 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:18162506|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822|PMID:33953728 8835217 Th tyrosine hydroxylase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15659429 8835217 Th tyrosine hydroxylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:733897 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:26467025|PMID:28492532|PMID:30456822 8835217 Th tyrosine hydroxylase gene DOID:936 brain disease ISO RGD:733897 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7842013 8835217 Th tyrosine hydroxylase gene DOID:9744 type 1 diabetes mellitus ISO RGD:733897 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:11921414|PMID:18162506|PMID:18171712|PMID:25542748|PMID:25741868|PMID:26101329|PMID:26467025|PMID:28492532|PMID:33953728 8835217 Th tyrosine hydroxylase gene DOID:9970 obesity resistance ISO RGD:733897 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.1170_1173dupTCAT (human) PMID:16251897|REF_RGD_ID:1601632 8835217 Th tyrosine hydroxylase gene DOID:9993 hypoglycemia ISO RGD:3853 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:adrenal gland (rat) PMID:16396986|REF_RGD_ID:5130724 8835247 Ca4 carbonic anhydrase 4 gene DOID:0110404 retinitis pigmentosa 17 ISO RGD:1353429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 17 PMID:15090652|PMID:15295099|PMID:15563508|PMID:17652713|PMID:19211803|PMID:20238024|PMID:20450258|PMID:20626030|PMID:25741868|PMID:28492532|PMID:33022222|PMID:7581389|PMID:9385361 8835247 Ca4 carbonic anhydrase 4 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1353429 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8835247 Ca4 carbonic anhydrase 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1353429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15090652|PMID:15295099|PMID:15563508|PMID:17576681|PMID:20238024|PMID:20626030|PMID:28492532|PMID:29343940|PMID:33022222|PMID:7581389|PMID:9385361|PMID:9536098 8835247 Ca4 carbonic anhydrase 4 gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1353429 D RGD:9068941 20200609 RGD PMID:15090652|REF_RGD_ID:1600730 8835247 Ca4 carbonic anhydrase 4 gene DOID:11372 megacolon ISO RGD:1353429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8835247 Ca4 carbonic anhydrase 4 gene DOID:630 genetic disease ISO RGD:1353429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8835247 Ca4 carbonic anhydrase 4 gene DOID:8501 fundus dystrophy ISO RGD:1353429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:30718709 8835247 Ca4 carbonic anhydrase 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:1332428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8835274 Ube2e2 ubiquitin conjugating enzyme E2 E2 gene DOID:0050868 hepatocellular adenoma ISO RGD:1346022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 8835274 Ube2e2 ubiquitin conjugating enzyme E2 E2 gene DOID:630 genetic disease ISO RGD:1346022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835274 Ube2e2 ubiquitin conjugating enzyme E2 E2 gene DOID:684 hepatocellular carcinoma ISO RGD:1346022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27914986 8835274 Ube2e2 ubiquitin conjugating enzyme E2 E2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346022 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20818381 8835274 Ube2e2 ubiquitin conjugating enzyme E2 E2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1346022 D RGD:9068941 20231026 RGD associated with Environmental Illness; DNA:SNP:: (rs1496653) (human) PMID:27281273|REF_RGD_ID:401850598 8835286 Atl2 atlastin GTPase 2 gene DOID:0080690 RASopathy ISO RGD:1312973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8835286 Atl2 atlastin GTPase 2 gene DOID:11211 buphthalmos ISO RGD:1312973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:19234632|PMID:28492532|PMID:31251480|PMID:9097971|PMID:9497261 8835286 Atl2 atlastin GTPase 2 gene DOID:3883 Lynch syndrome ISO RGD:1312973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8835286 Atl2 atlastin GTPase 2 gene DOID:630 genetic disease ISO RGD:1312973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835320 Dpp3 dipeptidyl peptidase 3 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 8835320 Dpp3 dipeptidyl peptidase 3 gene DOID:1059 intellectual disability ISO RGD:736150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8835320 Dpp3 dipeptidyl peptidase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8835320 Dpp3 dipeptidyl peptidase 3 gene DOID:2746 glycogen storage disease V ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8835320 Dpp3 dipeptidyl peptidase 3 gene DOID:630 genetic disease ISO RGD:736150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835320 Dpp3 dipeptidyl peptidase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736150 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8835320 Dpp3 dipeptidyl peptidase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8835349 Lats1 large tumor suppressor kinase 1 gene DOID:1788 peritoneal mesothelioma ISO RGD:1349703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma 8835349 Lats1 large tumor suppressor kinase 1 gene DOID:2513 basal cell carcinoma ISO RGD:1349703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 8835349 Lats1 large tumor suppressor kinase 1 gene DOID:2661 myoepithelioma ISO RGD:1349703 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8835349 Lats1 large tumor suppressor kinase 1 gene DOID:3069 malignant astrocytoma ISO RGD:1349703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17049657 8835349 Lats1 large tumor suppressor kinase 1 gene DOID:3070 high grade glioma ISO RGD:1349703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8835349 Lats1 large tumor suppressor kinase 1 gene DOID:3307 teratoma ISO RGD:1349703 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8835349 Lats1 large tumor suppressor kinase 1 gene DOID:630 genetic disease ISO RGD:1349703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835349 Lats1 large tumor suppressor kinase 1 gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1349703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21447609 8835349 Lats1 large tumor suppressor kinase 1 gene DOID:9538 multiple myeloma ISO RGD:1349703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8835364 Alpk2 alpha kinase 2 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1343226 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8835364 Alpk2 alpha kinase 2 gene DOID:0111988 immunodeficiency 12 ISO RGD:1343226 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8835364 Alpk2 alpha kinase 2 gene DOID:630 genetic disease ISO RGD:1343226 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8835388 Phb2 prohibitin 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8835388 Phb2 prohibitin 2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8835388 Phb2 prohibitin 2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8835388 Phb2 prohibitin 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8835388 Phb2 prohibitin 2 gene DOID:0111621 Temtamy syndrome ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8835388 Phb2 prohibitin 2 gene DOID:630 genetic disease ISO RGD:1604641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835388 Phb2 prohibitin 2 gene DOID:9000998 Brain Injuries ISO RGD:620203 D RGD:9068941 20200609 RGD PMID:24566151|REF_RGD_ID:12903261 8835388 Phb2 prohibitin 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8835404 Creb3l2 cAMP responsive element binding protein 3 like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8835404 Creb3l2 cAMP responsive element binding protein 3 like 2 gene DOID:630 genetic disease ISO RGD:1314429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835426 Mical2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1602728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8835426 Mical2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1602728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8835426 Mical2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:5082 liver cirrhosis ISO RGD:1602728 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 8835426 Mical2 microtubule associated monooxygenase, calponin and LIM domain containing 2 gene DOID:630 genetic disease ISO RGD:1602728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835485 Muc15 mucin 15, cell surface associated gene DOID:1059 intellectual disability ISO RGD:1351658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8835485 Muc15 mucin 15, cell surface associated gene DOID:543 dystonia ISO RGD:1351658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17576681|PMID:28492532|PMID:9536098 8835485 Muc15 mucin 15, cell surface associated gene DOID:630 genetic disease ISO RGD:1351658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835501 Hspb9 heat shock protein family B (small) member 9 gene DOID:630 genetic disease ISO RGD:1319285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835501 Hspb9 heat shock protein family B (small) member 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1319285 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31546644 8835507 Surf1 surfeit 1 gene DOID:0050753 cerebellar ataxia ISO RGD:732036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:17576681|PMID:22488715|PMID:23829769|PMID:25741868|PMID:28492532|PMID:32445240|PMID:9536098 8835507 Surf1 surfeit 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8835507 Surf1 surfeit 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8835507 Surf1 surfeit 1 gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:732036 D RGD:7240710 20201111 OMIM 8835507 Surf1 surfeit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8835507 Surf1 surfeit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8835507 Surf1 surfeit 1 gene DOID:0081097 Rafiq syndrome ISO RGD:732036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8835507 Surf1 surfeit 1 gene DOID:0110187 Charcot-Marie-Tooth disease type 4K ISO RGD:732036 D RGD:7240710 20180130 OMIM 8835507 Surf1 surfeit 1 gene DOID:0110187 Charcot-Marie-Tooth disease type 4K ISO RGD:732036 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4K PMID:10443880|PMID:12026244|PMID:12515039|PMID:12943968|PMID:16326995|PMID:16542579|PMID:19780766|PMID:22488715|PMID:23829769|PMID:24027061|PMID:24262866|PMID:24462369|PMID:25741868|PMID:27896082|PMID:28492532|PMID:29933018|PMID:32445240 8835507 Surf1 surfeit 1 gene DOID:0111180 French Canadian Leigh disease ISO RGD:732036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16326995 8835507 Surf1 surfeit 1 gene DOID:1059 intellectual disability ISO RGD:732036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8835507 Surf1 surfeit 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:732036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8835507 Surf1 surfeit 1 gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:28429146|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:9536098|PMID:9837813|PMID:9843204 8835507 Surf1 surfeit 1 gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:28429146|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204 8835507 Surf1 surfeit 1 gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12515039|PMID:12812953|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33134083|PMID:34052969|PMID:34868319|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204 8835507 Surf1 surfeit 1 gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12515039|PMID:12812953|PMID:12943968|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:22700954|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33134083|PMID:34052969|PMID:34868319|PMID:34943053|PMID:9536098|PMID:9837813|PMID:9843204 8835507 Surf1 surfeit 1 gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:12026244|PMID:12515039|PMID:12812953|PMID:12943968|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:22700954|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33134083|PMID:34052969|PMID:34302356|PMID:34868319|PMID:34943053|PMID:35094435|PMID:9536098|PMID:9837813|PMID:9843204 8835507 Surf1 surfeit 1 gene DOID:3652 Leigh disease ISO RGD:732036 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10443880|PMID:10556302|PMID:10558868|PMID:10636738|PMID:10746561|PMID:11279059|PMID:11288709|PMID:11317352|PMID:11423010|PMID:11955926|PMID:12026244|PMID:12515039|PMID:12812953|PMID:12943968|PMID:14557577|PMID:15214016|PMID:16199547|PMID:16225813|PMID:16326995|PMID:16542579|PMID:16773507|PMID:17576681|PMID:17908801|PMID:18583168|PMID:18804471|PMID:19780766|PMID:20624914|PMID:20843780|PMID:21937992|PMID:22488715|PMID:22700954|PMID:23806086|PMID:23829769|PMID:24027061|PMID:24088041|PMID:24262866|PMID:24462369|PMID:25111564|PMID:25326637|PMID:25741868|PMID:26257172|PMID:26944241|PMID:27475922|PMID:27756633|PMID:27826120|PMID:27848944|PMID:27896082|PMID:28429146|PMID:28492532|PMID:28639102|PMID:2933018|PMID:29715184|PMID:29933018|PMID:30872186|PMID:31589614|PMID:31967322|PMID:32380162|PMID:32445240|PMID:33013660|PMID:33101984|PMID:33134083|PMID:34052969|PMID:34302356|PMID:34868319|PMID:34943053|PMID:35094435|PMID:36675121|PMID:9536098|PMID:9837813|PMID:9843204 8835507 Surf1 surfeit 1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:732036 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:10443880|PMID:10636738|PMID:10647889|PMID:10746561|PMID:11317352|PMID:15214016|PMID:16199547|PMID:16542579|PMID:21937992|PMID:22488715|PMID:23829769|PMID:24027061|PMID:24462369|PMID:25111564|PMID:25741868|PMID:27756633|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:32445240|PMID:9837813|PMID:9843204 8835507 Surf1 surfeit 1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:732036 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:10443880|PMID:10636738|PMID:10647889|PMID:10746561|PMID:11317352|PMID:12515039|PMID:12943968|PMID:15214016|PMID:16199547|PMID:16326995|PMID:16542579|PMID:17576681|PMID:18583168|PMID:19780766|PMID:20624914|PMID:21937992|PMID:22488715|PMID:23829769|PMID:24027061|PMID:24462369|PMID:25111564|PMID:25741868|PMID:27756633|PMID:27896082|PMID:28492532|PMID:28639102|PMID:29933018|PMID:30872186|PMID:32445240|PMID:33134083|PMID:34302356|PMID:35693685|PMID:36675121|PMID:9536098|PMID:9837813|PMID:9843204 8835507 Surf1 surfeit 1 gene DOID:630 genetic disease ISO RGD:732036 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10443880|PMID:25111564|PMID:25741868|PMID:26944241|PMID:27756633|PMID:28492532|PMID:29933018|PMID:33134083|PMID:9837813|PMID:9843204 8835507 Surf1 surfeit 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:732036 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:10443880|PMID:10636738|PMID:12515039|PMID:12943968|PMID:16326995|PMID:16542579|PMID:19780766|PMID:22488715|PMID:23829769|PMID:24027061|PMID:25741868|PMID:27896082|PMID:28492532|PMID:28639102|PMID:32445240|PMID:34302356|PMID:9837813|PMID:9843204 8835507 Surf1 surfeit 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16765830 8835525 Ankdd1a ankyrin repeat and death domain containing 1A gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8835525 Ankdd1a ankyrin repeat and death domain containing 1A gene DOID:2717 Bloom syndrome ISO RGD:1604469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8835525 Ankdd1a ankyrin repeat and death domain containing 1A gene DOID:630 genetic disease ISO RGD:1604469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835525 Ankdd1a ankyrin repeat and death domain containing 1A gene DOID:9256 colorectal cancer ISO RGD:1604469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8835549 Tbc1d22a TBC1 domain family member 22A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8835549 Tbc1d22a TBC1 domain family member 22A gene DOID:1059 intellectual disability ISO RGD:1602007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8835549 Tbc1d22a TBC1 domain family member 22A gene DOID:630 genetic disease ISO RGD:1602007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835566 Nhlrc4 NHL repeat containing 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602637 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8835566 Nhlrc4 NHL repeat containing 4 gene DOID:1826 epilepsy ISO RGD:1602637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 8835566 Nhlrc4 NHL repeat containing 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8835566 Nhlrc4 NHL repeat containing 4 gene DOID:630 genetic disease ISO RGD:1602637 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835571 Larp4 La ribonucleoprotein 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8835571 Larp4 La ribonucleoprotein 4 gene DOID:630 genetic disease ISO RGD:1603283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835598 Paxip1 PAX interacting protein 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1316804 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 8835598 Paxip1 PAX interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1316804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8835598 Paxip1 PAX interacting protein 1 gene DOID:630 genetic disease ISO RGD:1316804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835637 Strn4 striatin 4 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 8835637 Strn4 striatin 4 gene DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I PMID:25741868 8835637 Strn4 striatin 4 gene DOID:0110644 long QT syndrome 1 ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 8835637 Strn4 striatin 4 gene DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 ISO RGD:1315983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 PMID:25741868 8835637 Strn4 striatin 4 gene DOID:630 genetic disease ISO RGD:1315983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835666 CUNH12orf75 chromosome unknown C12orf75 homolog gene DOID:630 genetic disease ISO RGD:2303668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835678 Tldc2 TBC/LysM-associated domain containing 2 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1348581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:28492532 8835678 Tldc2 TBC/LysM-associated domain containing 2 gene DOID:2234 focal epilepsy ISO RGD:1348581 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8835678 Tldc2 TBC/LysM-associated domain containing 2 gene DOID:630 genetic disease ISO RGD:1348581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8835678 Tldc2 TBC/LysM-associated domain containing 2 gene DOID:9004067 Chilblain Lupus 2 ISO RGD:1348581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus 2 PMID:25741868 8835678 Tldc2 TBC/LysM-associated domain containing 2 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1348581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:25741868|PMID:28492532 8835693 Bltp3b bridge-like lipid transfer protein family member 3B gene DOID:630 genetic disease ISO RGD:1604632 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835693 Bltp3b bridge-like lipid transfer protein family member 3B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1604632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8835740 Notum notum, palmitoleoyl-protein carboxylesterase gene DOID:0060041 autism spectrum disorder ISO RGD:1606450 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8835740 Notum notum, palmitoleoyl-protein carboxylesterase gene DOID:630 genetic disease ISO RGD:1606450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835773 Cept1 choline/ethanolamine phosphotransferase 1 gene DOID:12849 autistic disorder ISO RGD:1345389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8835773 Cept1 choline/ethanolamine phosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1345389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835788 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8835788 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8835788 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8835788 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8835788 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:5812 MHC class II deficiency ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8835788 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:630 genetic disease ISO RGD:1602655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835788 Gabpb2 GA binding protein transcription factor subunit beta 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8835804 Gmcl1 germ cell-less 1, spermatogenesis associated gene DOID:630 genetic disease ISO RGD:1605349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835831 Zdhhc16 zinc finger DHHC-type palmitoyltransferase 16 gene DOID:630 genetic disease ISO RGD:1604262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1314253 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1314253 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1314253 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1314253 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1314253 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:3652 Leigh disease ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:630 genetic disease ISO RGD:1314253 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:9005249 Immunodeficiency 103 ISO RGD:1314253 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 8835860 Entr1 endosome associated trafficking regulator 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1314253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8835872 Gla galactosidase alpha gene DOID:0050700 cardiomyopathy ISO RGD:1344140 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10666480|PMID:11531969|PMID:11668641|PMID:11828341|PMID:11889412|PMID:11914245|PMID:12175777|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15091117|PMID:15702404|PMID:15712228|PMID:15776423|PMID:15806320|PMID:16232095|PMID:16533976|PMID:16595074|PMID:16754800|PMID:1677356|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17555407|PMID:17804462|PMID:18003767|PMID:18057066|PMID:18154965|PMID:18205205|PMID:18297328|PMID:18596132|PMID:18830871|PMID:18849176|PMID:19373884|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:20716442|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21229318|PMID:21517827|PMID:21549080|PMID:21598360|PMID:21683120|PMID:21890869|PMID:21946453|PMID:21972175|PMID:22205110|PMID:22226368|PMID:22336178|PMID:22437327|PMID:22551898|PMID:22682330|PMID:22805550|PMID:22905681|PMID:23109060|PMID:23219219|PMID:23306324|PMID:23332617|PMID:23393592|PMID:23430502|PMID:23430526|PMID:23465405|PMID:23568732|PMID:23608164|PMID:23677059|PMID:23818648|PMID:23922385|PMID:2393552|PMID:23935525|PMID:24015197|PMID:24033266|PMID:24082139|PMID:24365053|PMID:24380807|PMID:24386359|PMID:24395922|PMID:24582695|PMID:24661928|PMID:24784157|PMID:24829596|PMID:24980630|PMID:25040344|PMID:25078086|PMID:25179549|PMID:25382311|PMID:25468652|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26047621|PMID:26070511|PMID:26252393|PMID:26305465|PMID:26384850|PMID:26415523|PMID:26866599|PMID:26869469|PMID:26990548|PMID:27142856|PMID:27532257|PMID:27554049|PMID:27595546|PMID:27657681|PMID:27832731|PMID:27916943|PMID:27931613|PMID:28082092|PMID:28253518|PMID:28276057|PMID:28299312|PMID:28332257|PMID:28340804|PMID:2836863|PMID:28377241|PMID:28409012|PMID:28430823|PMID:28492532|PMID:28596458|PMID:28646478|PMID:28728877|PMID:28799081|PMID:28892806|PMID:28941980|PMID:28943383|PMID:28988177|PMID:29018006|PMID:29037082|PMID:29044343|PMID:29132836|PMID:29143201|PMID:29215092|PMID:29227985|PMID:29305833|PMID:29330335|PMID:29530533|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29867742|PMID:29875425|PMID:29982630|PMID:30023289|PMID:30246259|PMID:30380558|PMID:30386727|PMID:30477121|PMID:30569317|PMID:30662066|PMID:30731207|PMID:30739116|PMID:30773290|PMID:30902821|PMID:31020198|PMID:31028938|PMID:31036492|PMID:31291414|PMID:31449323|PMID:31566927|PMID:31613176|PMID:31650418|PMID:31654629|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32042454|PMID:32109691|PMID:32150461|PMID:32246049|PMID:32246457|PMID:32281532|PMID:32418857|PMID:32432376|PMID:32435590|PMID:32531501|PMID:32843101|PMID:32963035|PMID:33036343|PMID:33335842|PMID:33527381|PMID:33543778|PMID:33617311|PMID:33712733|PMID:33807900|PMID:35035949|PMID:35743592|PMID:35743707|PMID:35971858|PMID:36013057|PMID:36087038|PMID:36156392|PMID:36564230|PMID:37205992|PMID:37480128|PMID:38002959|PMID:6379599|PMID:7504405|PMID:7911050|PMID:8395937|PMID:8411052|PMID:8807334|PMID:8875188|PMID:8878432|PMID:9100224|PMID:9452111|PMID:9620884 8835872 Gla galactosidase alpha gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8835872 Gla galactosidase alpha gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1344140 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8835872 Gla galactosidase alpha gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1344140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8835872 Gla galactosidase alpha gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1344140 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11668641|PMID:11688386|PMID:12428061|PMID:15702404|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:20505683|PMID:21549080|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22805550|PMID:23219219|PMID:23378663|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24386359|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:27142856|PMID:27356758|PMID:27560961|PMID:27832731|PMID:28382085|PMID:28492532|PMID:28799081|PMID:29121657|PMID:29867742|PMID:29982630|PMID:30804731|PMID:30902821|PMID:31613176|PMID:31650418|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32281532|PMID:32418857|PMID:32531501|PMID:33617311|PMID:35743707|PMID:36156392|PMID:8738659|PMID:8878432|PMID:9100224|PMID:9395081|PMID:9883849 8835872 Gla galactosidase alpha gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344140 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11668641|PMID:11688386|PMID:12428061|PMID:15702404|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:20505683|PMID:21549080|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22805550|PMID:23219219|PMID:23378663|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24386359|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:26415523|PMID:27142856|PMID:27356758|PMID:27560961|PMID:27832731|PMID:27916943|PMID:28253518|PMID:28382085|PMID:28492532|PMID:28728877|PMID:28799081|PMID:29121657|PMID:29794742|PMID:29867742|PMID:29982630|PMID:30804731|PMID:30902821|PMID:31613176|PMID:31650418|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32281532|PMID:32418857|PMID:32531501|PMID:33495303|PMID:33617311|PMID:35743707|PMID:36156392|PMID:8738659|PMID:8878432|PMID:9100224|PMID:9395081|PMID:9883849 8835872 Gla galactosidase alpha gene DOID:1184 nephrotic syndrome ISO RGD:1344140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 8835872 Gla galactosidase alpha gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344140 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10208848|PMID:10666480|PMID:11531969|PMID:11668641|PMID:11828341|PMID:11914245|PMID:12175777|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15091117|PMID:15702404|PMID:15712228|PMID:15806320|PMID:16232095|PMID:16754800|PMID:16773563|PMID:17555407|PMID:18057066|PMID:18154965|PMID:18297328|PMID:18849176|PMID:19373884|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:20821055|PMID:21062768|PMID:21092187|PMID:21229318|PMID:21517827|PMID:21598360|PMID:21683120|PMID:21972175|PMID:22226368|PMID:22437327|PMID:22682330|PMID:23109060|PMID:23219219|PMID:23332617|PMID:23393592|PMID:23430502|PMID:23568732|PMID:23677059|PMID:23818648|PMID:23935525|PMID:24033266|PMID:24386359|PMID:24582695|PMID:24829596|PMID:24980630|PMID:25078086|PMID:25611685|PMID:25637381|PMID:25741868|PMID:26047621|PMID:26384850|PMID:26415523|PMID:26866599|PMID:26869469|PMID:27532257|PMID:27554049|PMID:27595546|PMID:27832731|PMID:27931613|PMID:28082092|PMID:28276057|PMID:28377241|PMID:28430823|PMID:28492532|PMID:28943383|PMID:28988177|PMID:29018006|PMID:29037082|PMID:29044343|PMID:29215092|PMID:29530533|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29875425|PMID:30023289|PMID:30380558|PMID:30386727|PMID:30477121|PMID:30662066|PMID:30731207|PMID:31020198|PMID:31028938|PMID:31613176|PMID:31996269|PMID:32042454|PMID:32109691|PMID:32150461|PMID:32246049|PMID:32246457|PMID:32432376|PMID:32435590|PMID:32963035|PMID:33335842|PMID:33543778|PMID:33807900|PMID:35035949|PMID:35743592|PMID:35971858|PMID:36013057|PMID:36087038|PMID:37205992|PMID:37480128|PMID:38002959|PMID:7504405|PMID:7911050|PMID:8395937|PMID:8411052|PMID:8878432|PMID:9452111|PMID:9620884 8835872 Gla galactosidase alpha gene DOID:12849 autistic disorder ISO RGD:1344140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8835872 Gla galactosidase alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:7240710 20180130 OMIM 8835872 Gla galactosidase alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease PMID:10090526|PMID:10200059|PMID:10208848|PMID:10360396|PMID:105759|PMID:10649504|PMID:10666480|PMID:10838196|PMID:10916280|PMID:11076046|PMID:11137837|PMID:11145098|PMID:11179018|PMID:11295840|PMID:11322659|PMID:11531969|PMID:11531972|PMID:11668641|PMID:11688386|PMID:11804208|PMID:11828341|PMID:11889412|PMID:11914245|PMID:12068026|PMID:12175777|PMID:12207598|PMID:12359124|PMID:12428061|PMID:12429061|PMID:12480979|PMID:12512750|PMID:12668521|PMID:12694230|PMID:12778775|PMID:12786754|PMID:12796853|PMID:12911529|PMID:12920095|PMID:12938095|PMID:1315304|PMID:1315715|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15086478|PMID:15091117|PMID:15100373|PMID:15162124|PMID:15339079|PMID:15353880|PMID:15492942|PMID:15611419|PMID:15695328|PMID:15702403|PMID:15702404|PMID:15712228|PMID:15713906|PMID:15776423|PMID:15806320|PMID:15861341|PMID:15924232|PMID:15947062|PMID:16148726|PMID:16199547|PMID:16215932|PMID:16224739|PMID:16232095|PMID:1650161|PMID:16533976|PMID:16595074|PMID:16626582|PMID:1668641|PMID:16720462|PMID:16754800|PMID:1677356|PMID:16773563|PMID:17040996|PMID:17057070|PMID:17206462|PMID:17224688|PMID:17437606|PMID:17452128|PMID:17532296|PMID:1753437|PMID:17555407|PMID:17576681|PMID:17656478|PMID:17713670|PMID:17804462|PMID:18003767|PMID:18023222|PMID:18046674|PMID:18057066|PMID:18154965|PMID:18154966|PMID:18205205|PMID:18287059|PMID:18297328|PMID:18387337|PMID:18424138|PMID:1846223|PMID:18472290|PMID:18555667|PMID:18560446|PMID:18596132|PMID:18633574|PMID:18698230|PMID:18724168|PMID:18784903|PMID:18830871|PMID:18849176|PMID:18974770|PMID:19265719|PMID:19285316|PMID:19287194|PMID:19320660|PMID:19373884|PMID:19387866|PMID:19621417|PMID:19763152|PMID:19823873|PMID:19941952|PMID:20022777|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20139917|PMID:20300124|PMID:20307669|PMID:20360539|PMID:20367968|PMID:20464614|PMID:20498269|PMID:20505683|PMID:20615758|PMID:20628902|PMID:20629180|PMID:20716442|PMID:20821055|PMID:20864368|PMID:21062768|PMID:21092187|PMID:21138548|PMID:21229318|PMID:21305660|PMID:21333496|PMID:21353612|PMID:21420783|PMID:21517827|PMID:2152885|PMID:21549080|PMID:21587323|PMID:21598360|PMID:2160973|PMID:21683120|PMID:21700093|PMID:2171331|PMID:21804088|PMID:21890869|PMID:21896204|PMID:21946453|PMID:21972175|PMID:22004918|PMID:22063097|PMID:22078290|PMID:22176145|PMID:22205110|PMID:22226368|PMID:22227322|PMID:22241068|PMID:22305854|PMID:22336178|PMID:22378313|PMID:22406018|PMID:22437327|PMID:22472932|PMID:22498845|PMID:22551898|PMID:22563919|PMID:22682330|PMID:22695894|PMID:22773828|PMID:22805550|PMID:22874111|PMID:22880956|PMID:22905681|PMID:23109060|PMID:23146289|PMID:23210910|PMID:23219219|PMID:23248976|PMID:23305247|PMID:23306324|PMID:23307880|PMID:23332617|PMID:23378663|PMID:23387234|PMID:23393592|PMID:23430502|PMID:23430526|PMID:23430848|PMID:23430946|PMID:23465405|PMID:23474038|PMID:23537685|PMID:23566439|PMID:23568732|PMID:23591357|PMID:23608164|PMID:23677059|PMID:23691425|PMID:23724928|PMID:23756194|PMID:23818648|PMID:23826564|PMID:23867994|PMID:23913314|PMID:23922385|PMID:2393552|PMID:23935525|PMID:23980562|PMID:24015197|PMID:24033266|PMID:24082139|PMID:24094560|PMID:24236025|PMID:24334114|PMID:24365053|PMID:24380807|PMID:24386359|PMID:24395922|PMID:24503780|PMID:24582695|PMID:24613481|PMID:24626231|PMID:24626659|PMID:24661928|PMID:24718812|PMID:24784157|PMID:24829596|PMID:24830310|PMID:24980630|PMID:25026990|PMID:25040344|PMID:25078086|PMID:25086909|PMID:25149322|PMID:25179549|PMID:25319043|PMID:25382311|PMID:25386848|PMID:2539398|PMID:25409744|PMID:25439755|PMID:25468650|PMID:25468652|PMID:25487570|PMID:25511234|PMID:25525159|PMID:25531941|PMID:25596309|PMID:25611685|PMID:25619383|PMID:25637381|PMID:25640679|PMID:25655062|PMID:25663229|PMID:25666440|PMID:25741868|PMID:25750198|PMID:25762495|PMID:25772321|PMID:25795794|PMID:25835592|PMID:25865499|PMID:25896551|PMID:25900714|PMID:25949379|PMID:25955246|PMID:25965380|PMID:25974833|PMID:25977923|PMID:26044846|PMID:26047621|PMID:26070511|PMID:26083343 8835872 Gla galactosidase alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease PMID:26179544|PMID:26238931|PMID:26252393|PMID:26272908|PMID:26297554|PMID:26298600|PMID:26305465|PMID:26333625|PMID:26384850|PMID:26415523|PMID:26424312|PMID:26456105|PMID:26490103|PMID:26563328|PMID:26593248|PMID:26629990|PMID:26631895|PMID:26652600|PMID:26691501|PMID:26866599|PMID:26869469|PMID:26880903|PMID:26937405|PMID:26990548|PMID:27081853|PMID:27083555|PMID:27129690|PMID:27142856|PMID:27160240|PMID:27211852|PMID:27225851|PMID:27238910|PMID:27356758|PMID:27431810|PMID:2744760|PMID:27531472|PMID:27532257|PMID:27554049|PMID:27560961|PMID:27576502|PMID:27585509|PMID:27595546|PMID:27629047|PMID:27657681|PMID:27773586|PMID:27825144|PMID:27831900|PMID:27832731|PMID:27834756|PMID:27896102|PMID:27896103|PMID:27916943|PMID:27931613|PMID:27979989|PMID:27992580|PMID:28069318|PMID:28082092|PMID:28253518|PMID:28275245|PMID:28276057|PMID:28299312|PMID:28302345|PMID:28332257|PMID:28340691|PMID:28340804|PMID:28360401|PMID:2836863|PMID:28377241|PMID:28382085|PMID:28389313|PMID:28409012|PMID:28430823|PMID:28492532|PMID:28496025|PMID:28500230|PMID:28596458|PMID:28615118|PMID:28625968|PMID:28646478|PMID:28649509|PMID:28672034|PMID:28682471|PMID:28717668|PMID:28723748|PMID:28728877|PMID:28736719|PMID:28749998|PMID:28756410|PMID:28768754|PMID:28771489|PMID:28798024|PMID:28799081|PMID:28877708|PMID:28892806|PMID:28941980|PMID:28943383|PMID:28964554|PMID:28977874|PMID:28988177|PMID:29018006|PMID:29019163|PMID:29037082|PMID:29044343|PMID:29079200|PMID:29121657|PMID:29132836|PMID:29143201|PMID:29186537|PMID:29203563|PMID:29204651|PMID:29215092|PMID:29227985|PMID:29247119|PMID:29305833|PMID:29307789|PMID:29326878|PMID:29330335|PMID:29361493|PMID:29437868|PMID:29476735|PMID:29487688|PMID:29491734|PMID:29530533|PMID:29543226|PMID:29621274|PMID:29631605|PMID:29649853|PMID:29661900|PMID:29688992|PMID:29688998|PMID:29770213|PMID:29794742|PMID:29853467|PMID:29867742|PMID:29875425|PMID:29982630|PMID:30023289|PMID:30038331|PMID:30064518|PMID:30085001|PMID:30093709|PMID:30103270|PMID:30201457|PMID:30246259|PMID:30261035|PMID:30380558|PMID:30385651|PMID:30386727|PMID:30474596|PMID:30477121|PMID:30497360|PMID:30568064|PMID:30569317|PMID:30571380|PMID:30594474|PMID:30644091|PMID:30658922|PMID:30662066|PMID:30677769|PMID:30715505|PMID:30731207|PMID:30739116|PMID:30762167|PMID:30773290|PMID:30804731|PMID:30834538|PMID:30853972|PMID:30890379|PMID:30902821|PMID:30972193|PMID:30985853|PMID:30988410|PMID:31010832|PMID:31020198|PMID:31028938|PMID:31036492|PMID:31065389|PMID:31200018|PMID:31213654|PMID:31243236|PMID:31291414|PMID:31319156|PMID:31321922|PMID:31367522|PMID:31372342|PMID:31392112|PMID:31446751|PMID:31449323|PMID:31519519|PMID:31566927|PMID:31613176|PMID:31620600|PMID:31634893|PMID:31649303|PMID:31650418|PMID:31654629|PMID:31664448|PMID:31798221|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32023956|PMID:32036093|PMID:32042454|PMID:32099817|PMID:32109691|PMID:32127409|PMID:32150461|PMID:32161151|PMID:32198894|PMID:32203225|PMID:32246049|PMID:32246457|PMID:32281532|PMID:32306159|PMID:32418857|PMID:32432376|PMID:32435590|PMID:32442237|PMID:32486191|PMID:32531501|PMID:32583479|PMID:32699723|PMID:32714835|PMID:32719972|PMID:32789421|PMID:32793709|PMID:32797665|PMID:32802993|PMID:32813676|PMID:32843101|PMID:32860008|PMID:32901917|PMID:32963035|PMID:32995357|PMID:33016649|PMID:33022387|PMID:33036343|PMID:33040545|PMID:33072983|PMID:33073010|PMID:33163363|PMID:33179747|PMID:33204599|PMID:33301762|PMID:33335842|PMID:33437642|PMID:33495303|PMID:33527381|PMID:33543778|PMID:33545641|PMID:33617311|PMID:33673806|PMID:33712733|PMID:33807900|PMID:33835496|PMID:33907643|PMID:34199132|PMID:34205365|PMID:34270679|PMID:34401344|PMID:34545322|PMID:34679477|PMID:34803097|PMID:34905550|PMID:35035949|PMID:35548424|PMID:35743592|PMID:35743707|PMID:35870541|PMID:35971858|PMID:35977816|PMID:36013057|PMID:36087038|PMID:36140787|PMID:36156392|PMID:36292965|PMID:36564230|PMID:36745055|PMID:37205992|PMID:37480128|PMID:38002959|PMID:6379599 8835872 Gla galactosidase alpha gene DOID:14499 Fabry disease ISO RGD:1344140 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease PMID:7504405|PMID:7531540|PMID:7575533|PMID:7596372|PMID:7599642|PMID:7759078|PMID:7911050|PMID:7951217|PMID:8012363|PMID:8069316|PMID:8395937|PMID:8411052|PMID:8738659|PMID:8768754|PMID:8807334|PMID:8834244|PMID:8863162|PMID:8875188|PMID:8878432|PMID:8931708|PMID:8996967|PMID:9100224|PMID:9105656|PMID:9116979|PMID:9268104|PMID:9395081|PMID:9452068|PMID:9452090|PMID:9452111|PMID:9536098|PMID:9554750|PMID:9620884|PMID:9883849 8835872 Gla galactosidase alpha gene DOID:3211 lysosomal storage disease ISO RGD:1589721 D RGD:9068941 20211022 RGD PMID:29563343|REF_RGD_ID:150429980 8835872 Gla galactosidase alpha gene DOID:479 angiokeratoma ISO RGD:1344140 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19925601 8835872 Gla galactosidase alpha gene DOID:9000020 Fabry Disease, Cardiac Variant ISO RGD:1344140 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fabry disease, cardiac variant PMID:10208848|PMID:105759|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11688386|PMID:11828341|PMID:12428061|PMID:1315715|PMID:15702404|PMID:16773563|PMID:17532296|PMID:17555407|PMID:1846223|PMID:19287194|PMID:19621417|PMID:19823873|PMID:20031620|PMID:20505683|PMID:20821055|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22437327|PMID:23109060|PMID:23378663|PMID:23935525|PMID:24033266|PMID:24386359|PMID:24980630|PMID:25382311|PMID:25611685|PMID:25741868|PMID:26869469|PMID:27356758|PMID:27554049|PMID:27560961|PMID:27585509|PMID:27595546|PMID:27931613|PMID:28082092|PMID:28377241|PMID:28430823|PMID:28492532|PMID:28728877|PMID:29204651|PMID:29215092|PMID:29875425|PMID:30380558|PMID:30386727|PMID:30662066|PMID:30731207|PMID:30804731|PMID:30890379|PMID:31028938|PMID:31200018|PMID:31519519|PMID:31798221|PMID:32099817|PMID:32246049|PMID:35743592|PMID:36013057|PMID:7596372|PMID:8738659|PMID:9100224|PMID:9395081|PMID:9883849 8835872 Gla galactosidase alpha gene DOID:9000641 Pain ISO RGD:1589721 D RGD:9068941 20211022 RGD compared to wild type PMID:29563343|REF_RGD_ID:150429980 8835872 Gla galactosidase alpha gene DOID:9000641 Pain treatment ISO RGD:1589721 D RGD:9068941 20211022 RGD Allyl isothiocyanate (XCO:0000608) PMID:29563343|REF_RGD_ID:150429980 8835872 Gla galactosidase alpha gene DOID:9007096 Stroke ISO RGD:1344140 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:26415523|PMID:27916943|PMID:28253518|PMID:28492532|PMID:28728877|PMID:29794742|PMID:33495303 8835872 Gla galactosidase alpha gene DOID:9007820 Sudden Death ISO RGD:1344140 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:11668641|PMID:11914245|PMID:14635108|PMID:14680977|PMID:15806320|PMID:16232095|PMID:16754800|PMID:18057066|PMID:18154965|PMID:18297328|PMID:19373884|PMID:20110537|PMID:20122163|PMID:20360539|PMID:20464614|PMID:21229318|PMID:21517827|PMID:22226368|PMID:23219219|PMID:23393592|PMID:23430502|PMID:24033266|PMID:24829596|PMID:25078086|PMID:25637381|PMID:25741868|PMID:26415523|PMID:27832731|PMID:28276057|PMID:28492532|PMID:28988177|PMID:29037082|PMID:29044343|PMID:29530533|PMID:29631605|PMID:32109691|PMID:32246457|PMID:33543778|PMID:35971858|PMID:7504405|PMID:9452111 8835872 Gla galactosidase alpha gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1344140 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 8835897 Srsf3 serine and arginine rich splicing factor 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1319459 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8835897 Srsf3 serine and arginine rich splicing factor 3 gene DOID:2152 ovary epithelial cancer ISO RGD:1319459 D RGD:9068941 20200609 RGD mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 8835897 Srsf3 serine and arginine rich splicing factor 3 gene DOID:3312 bipolar disorder ISO RGD:1319459 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:18281098|REF_RGD_ID:11039413 8835897 Srsf3 serine and arginine rich splicing factor 3 gene DOID:630 genetic disease ISO RGD:1319459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835897 Srsf3 serine and arginine rich splicing factor 3 gene DOID:9002498 Wallerian Degeneration ISO RGD:1309233 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:8568916|REF_RGD_ID:10059662 8835907 Il26 interleukin 26 gene DOID:630 genetic disease ISO RGD:1346180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835927 Gipc3 GIPC PDZ domain containing family member 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1606469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 8835927 Gipc3 GIPC PDZ domain containing family member 3 gene DOID:0110470 autosomal recessive nonsyndromic deafness 15 ISO RGD:1606469 D RGD:7240710 20180130 OMIM 8835927 Gipc3 GIPC PDZ domain containing family member 3 gene DOID:0110470 autosomal recessive nonsyndromic deafness 15 ISO RGD:1606469 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 PMID:17690910|PMID:21326233|PMID:21660509|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32682410|PMID:9286457 8835927 Gipc3 GIPC PDZ domain containing family member 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1606469 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:23510777|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32747562|PMID:32864763 8835927 Gipc3 GIPC PDZ domain containing family member 3 gene DOID:630 genetic disease ISO RGD:1606469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8835927 Gipc3 GIPC PDZ domain containing family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8835927 Gipc3 GIPC PDZ domain containing family member 3 gene DOID:9004538 Hearing Loss ISO RGD:1606469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386|PMID:32682410 8835937 Asgr1 asialoglycoprotein receptor 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:737103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8835937 Asgr1 asialoglycoprotein receptor 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:737103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8835937 Asgr1 asialoglycoprotein receptor 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:737103 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8835937 Asgr1 asialoglycoprotein receptor 1 gene DOID:12177 common variable immunodeficiency ISO RGD:737103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8835937 Asgr1 asialoglycoprotein receptor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:737103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8835937 Asgr1 asialoglycoprotein receptor 1 gene DOID:630 genetic disease ISO RGD:737103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835950 Stk40 serine/threonine kinase 40 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8835950 Stk40 serine/threonine kinase 40 gene DOID:630 genetic disease ISO RGD:1605028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835970 Nfe2 nuclear factor, erythroid 2 gene DOID:630 genetic disease ISO RGD:1315759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835970 Nfe2 nuclear factor, erythroid 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8835980 Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 gene DOID:630 genetic disease ISO RGD:1344643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835980 Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8835980 Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1344643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8835999 Bbc3 BCL2 binding component 3 gene DOID:224 transient cerebral ischemia ISO RGD:631434 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, pyramidal cell PMID:12913114|REF_RGD_ID:634629 8835999 Bbc3 BCL2 binding component 3 gene DOID:2316 brain ischemia ISO RGD:735389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19095966 8835999 Bbc3 BCL2 binding component 3 gene DOID:3669 intermittent claudication ISO RGD:631434 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 8835999 Bbc3 BCL2 binding component 3 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735389 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 8835999 Bbc3 BCL2 binding component 3 gene DOID:630 genetic disease ISO RGD:735389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8835999 Bbc3 BCL2 binding component 3 gene DOID:8584 Burkitt lymphoma ISO RGD:735389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18573879 8835999 Bbc3 BCL2 binding component 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735389 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16481741 8835999 Bbc3 BCL2 binding component 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 8836033 Pax2 paired box 2 gene DOID:0080204 renal hypoplasia ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868|PMID:35005812 8836033 Pax2 paired box 2 gene DOID:0080205 CAKUT ISO RGD:1313673 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:35444690|PMID:8589702|PMID:9106533 8836033 Pax2 paired box 2 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1313673 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:35444690|PMID:8589702|PMID:9106533 8836033 Pax2 paired box 2 gene DOID:0090006 renal coloboma syndrome ISO RGD:1313673 D RGD:7240710 20180130 OMIM 8836033 Pax2 paired box 2 gene DOID:0090006 renal coloboma syndrome ISO RGD:1313673 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PAX2-related condition | ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome PMID:10466411|PMID:10533062|PMID:11093271|PMID:11241473|PMID:11461952|PMID:15652857|PMID:16199547|PMID:17576681|PMID:20221250|PMID:20358591|PMID:21108633|PMID:21654726|PMID:22213154|PMID:22350371|PMID:23539225|PMID:24033266|PMID:24429398|PMID:24676634|PMID:25640679|PMID:25741868|PMID:2644560|PMID:27226968|PMID:27657687|PMID:28041643|PMID:28492532|PMID:28566479|PMID:29054766|PMID:29973660|PMID:30076350|PMID:30241513|PMID:30773290|PMID:31001663|PMID:31060108|PMID:31576025|PMID:31692565|PMID:32203253|PMID:32604935|PMID:32776440|PMID:33532864|PMID:3377002|PMID:34031707|PMID:34059960|PMID:34696790|PMID:34979951|PMID:35444690|PMID:36549658|PMID:7795640|PMID:8589702|PMID:8943028|PMID:9106533|PMID:9536098|PMID:9760197 8836033 Pax2 paired box 2 gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:27657687 8836033 Pax2 paired box 2 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1313673 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:35444690|PMID:8589702|PMID:9106533 8836033 Pax2 paired box 2 gene DOID:0111132 focal segmental glomerulosclerosis 7 ISO RGD:1313673 D RGD:7240710 20180130 OMIM 8836033 Pax2 paired box 2 gene DOID:0111132 focal segmental glomerulosclerosis 7 ISO RGD:1313673 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 PMID:10466411|PMID:10533062|PMID:11093271|PMID:11241473|PMID:11461952|PMID:21108633|PMID:21654726|PMID:22213154|PMID:22350371|PMID:23539225|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:27657687|PMID:28492532|PMID:28566479|PMID:31001663|PMID:32203253|PMID:32604935|PMID:32776440|PMID:33532864|PMID:3377002|PMID:34696790|PMID:35444690|PMID:36549658|PMID:8589702|PMID:9106533 8836033 Pax2 paired box 2 gene DOID:1184 nephrotic syndrome ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 8836033 Pax2 paired box 2 gene DOID:12270 coloboma ISO RGD:1313673 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 8836033 Pax2 paired box 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313673 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:11093271|PMID:11241473|PMID:11461952|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:28492532|PMID:31001663|PMID:33532864|PMID:3377002|PMID:35444690|PMID:8589702|PMID:9106533 8836033 Pax2 paired box 2 gene DOID:1826 epilepsy ISO RGD:1313673 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8836033 Pax2 paired box 2 gene DOID:2154 nephroblastoma ISO RGD:1305568 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:7937920|REF_RGD_ID:2316757 8836033 Pax2 paired box 2 gene DOID:2154 nephroblastoma ISO RGD:1313673 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12057921|REF_RGD_ID:2316755 8836033 Pax2 paired box 2 gene DOID:289 endometriosis ISO RGD:1313673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22473392 8836033 Pax2 paired box 2 gene DOID:2975 cystic kidney disease ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cyst 8836033 Pax2 paired box 2 gene DOID:5176 renal Wilms' tumor ISO RGD:1313673 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 8836033 Pax2 paired box 2 gene DOID:630 genetic disease ISO RGD:1313673 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21380624|PMID:25741868|PMID:28492532|PMID:30348286|PMID:31937884|PMID:34059960|PMID:34696790 8836033 Pax2 paired box 2 gene DOID:783 end stage renal disease ISO RGD:1313673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16631587 8836033 Pax2 paired box 2 gene DOID:784 chronic kidney disease treatment ISO RGD:1313673 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 8836033 Pax2 paired box 2 gene DOID:8501 fundus dystrophy ISO RGD:1313673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28041643|PMID:28492532 8836033 Pax2 paired box 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1305568 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney cortex PMID:15149326|REF_RGD_ID:2316747 8836033 Pax2 paired box 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1313673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8836033 Pax2 paired box 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1305568 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:12444203|REF_RGD_ID:727468 8836055 Pgr progesterone receptor gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:731081 D RGD:9068941 20200609 RGD PMID:12628841|REF_RGD_ID:2289659 8836055 Pgr progesterone receptor gene DOID:1059 intellectual disability ISO RGD:731081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8836055 Pgr progesterone receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:3317 D RGD:9068941 20200609 RGD protein:decreased expression:ovary: PMID:19698287|REF_RGD_ID:4145934 8836055 Pgr progesterone receptor gene DOID:127 leiomyoma no_association ISO RGD:731081 D RGD:9068941 20200609 RGD PMID:15807882|REF_RGD_ID:1601278 8836055 Pgr progesterone receptor gene DOID:12700 hyperprolactinemia susceptibility ISO RGD:731081 D RGD:9068941 20200609 RGD PMID:15807882|REF_RGD_ID:1601278 8836055 Pgr progesterone receptor gene DOID:12704 ataxia telangiectasia ISO RGD:731081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8836055 Pgr progesterone receptor gene DOID:289 endometriosis ISO RGD:3317 D RGD:9068941 20200609 RGD PMID:21166214|REF_RGD_ID:7248704 8836055 Pgr progesterone receptor gene DOID:289 endometriosis ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21232532 8836055 Pgr progesterone receptor gene DOID:289 endometriosis ISO RGD:731081 D RGD:9068941 20200609 RGD PMID:16126772|REF_RGD_ID:1601277 8836055 Pgr progesterone receptor gene DOID:299 adenocarcinoma ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 8836055 Pgr progesterone receptor gene DOID:305 carcinoma ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 8836055 Pgr progesterone receptor gene DOID:3565 meningioma ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731987|PMID:19747051|PMID:8008172 8836055 Pgr progesterone receptor gene DOID:630 genetic disease ISO RGD:731081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836055 Pgr progesterone receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 8836055 Pgr progesterone receptor gene DOID:9000998 Brain Injuries ISO RGD:3317 D RGD:9068941 20200609 RGD PMID:23211561|REF_RGD_ID:7248711 8836055 Pgr progesterone receptor gene DOID:9002801 Recurrence ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 8836055 Pgr progesterone receptor gene DOID:9003566 Mesothelioma ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 8836055 Pgr progesterone receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 8836055 Pgr progesterone receptor gene DOID:9006882 Progesterone Resistance ISO RGD:731081 D RGD:7240710 20180130 OMIM 8836055 Pgr progesterone receptor gene DOID:9007715 Endometrial Neoplasms ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 8836055 Pgr progesterone receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19436038|PMID:21501481 8836055 Pgr progesterone receptor gene DOID:9970 obesity ISO RGD:731081 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:PROGINS polymorphism, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 PGR PROGINS genotype associated with obesity in 301 postmenopausal women with breast cancer PMID:14557830|REF_RGD_ID:1642050 8836070 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8836070 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1318271 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8836070 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8836070 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1318271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8836070 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8836070 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1318271 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8836070 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:1826 epilepsy ISO RGD:1318271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8836070 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:630 genetic disease ISO RGD:1318271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836070 Ndor1 NADPH dependent diflavin oxidoreductase 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1318271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8836109 Matn2 matrilin 2 gene DOID:630 genetic disease ISO RGD:1313328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1354502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:16199547|PMID:16644682|PMID:17187067|PMID:17576681|PMID:18445597|PMID:20370797|PMID:21170305|PMID:21544567|PMID:22832386|PMID:22990388|PMID:23232698|PMID:23449549|PMID:25287355|PMID:25741868|PMID:26922712|PMID:27869069|PMID:28391974|PMID:28492532|PMID:28499397|PMID:30738494|PMID:31525260|PMID:32041611|PMID:35460704|PMID:9536098 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1354502 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:114 heart disease ISO RGD:1354502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21585347|PMID:23867907 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1354502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:1354502 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:423 myopathy ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:6000 congestive heart failure ISO RGD:1354502 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:630 genetic disease ISO RGD:1354502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17187067|PMID:21073837|PMID:21544567|PMID:25363365|PMID:25741868|PMID:28492532 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1354502 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1354502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:9004438 Neutral Lipid Storage Disease with Myopathy ISO RGD:1354502 D RGD:7240710 20180130 OMIM 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:9004438 Neutral Lipid Storage Disease with Myopathy ISO RGD:1354502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis PMID:25741868|PMID:28492532|PMID:35460704 8836136 Pnpla2 patatin like phospholipase domain containing 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1354502 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35218467 8836173 Dab2 DAB adaptor protein 2 gene DOID:0050758 metabolic acidosis ISO RGD:621007 D RGD:9068941 20220421 RGD protein:decreased expression:brush border membrane PMID:22357915|REF_RGD_ID:7243154 8836173 Dab2 DAB adaptor protein 2 gene DOID:5844 myocardial infarction ISO RGD:621007 D RGD:9068941 20220421 RGD PMID:20666606|REF_RGD_ID:7243158 8836173 Dab2 DAB adaptor protein 2 gene DOID:5844 myocardial infarction ISO RGD:621007 D RGD:9068941 20220421 RGD protein:increased expression:cardiomyocyte PMID:21762377|REF_RGD_ID:7243156 8836173 Dab2 DAB adaptor protein 2 gene DOID:630 genetic disease ISO RGD:30302009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836173 Dab2 DAB adaptor protein 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621007 D RGD:9068941 20220421 RGD protein:increased expression:spinal cord PMID:17317100|REF_RGD_ID:7243246 8836173 Dab2 DAB adaptor protein 2 gene DOID:9000998 Brain Injuries ISO RGD:621007 D RGD:9068941 20220421 RGD PMID:15774263|REF_RGD_ID:7243841 8836173 Dab2 DAB adaptor protein 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:621007 D RGD:9068941 20220421 RGD PMID:21890121|REF_RGD_ID:7243155 8836173 Dab2 DAB adaptor protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:30302009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8836200 Depdc1 DEP domain containing 1 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1315914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 2 PMID:18632300|PMID:28492532|PMID:9326941|PMID:9501220|PMID:9843205 8836200 Depdc1 DEP domain containing 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1315914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8836200 Depdc1 DEP domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1315914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8836200 Depdc1 DEP domain containing 1 gene DOID:630 genetic disease ISO RGD:1315914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836200 Depdc1 DEP domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1315914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0050765 neuroacanthocytosis ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11761473|PMID:8619554 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1351512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:20729109|PMID:22929960|PMID:27701760|PMID:28492532|PMID:8634410|PMID:9585602 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1351512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0112107 McLeod syndrome ISO RGD:1351512 D RGD:7240710 20180130 OMIM 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:0112107 McLeod syndrome ISO RGD:1351512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: McLeod neuroacanthocytosis syndrome PMID:10426139|PMID:11261514|PMID:11703337|PMID:11761473|PMID:11961232|PMID:13860532|PMID:17133513|PMID:17302777|PMID:25741868|PMID:28492532|PMID:30800707|PMID:8004674|PMID:8619554 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:12849 autistic disorder ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:150 disease of mental health ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11261514 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:440 neuromuscular disease ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8004674|PMID:8619554 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:480 movement disease ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11261514 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:574 peripheral nervous system disease ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11761473 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:630 genetic disease ISO RGD:1351512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:74 hematopoietic system disease ISO RGD:1351512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8004674|PMID:8619554 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:74 hematopoietic system disease ISO RGD:1351512 D RGD:9068941 20200609 RGD McLeod syndrome, OMIM:314850 PMID:8004674|REF_RGD_ID:1354522 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1351512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8836229 Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351512 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8836236 Dmrtc2 DMRT like family C2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8836236 Dmrtc2 DMRT like family C2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8836236 Dmrtc2 DMRT like family C2 gene DOID:2340 craniosynostosis ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8836236 Dmrtc2 DMRT like family C2 gene DOID:5419 schizophrenia ISO RGD:1345316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8836236 Dmrtc2 DMRT like family C2 gene DOID:630 genetic disease ISO RGD:1345316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836236 Dmrtc2 DMRT like family C2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8836236 Dmrtc2 DMRT like family C2 gene DOID:9269 maple syrup urine disease ISO RGD:1345316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8836267 Czib CXXC motif containing zinc binding protein gene DOID:0060235 carnitine palmitoyltransferase II deficiency ISO RGD:1603028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency 8836279 Spaca5 sperm acrosome associated 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8836279 Spaca5 sperm acrosome associated 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8836279 Spaca5 sperm acrosome associated 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8836279 Spaca5 sperm acrosome associated 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8836279 Spaca5 sperm acrosome associated 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1346531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8836279 Spaca5 sperm acrosome associated 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1346531 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8836279 Spaca5 sperm acrosome associated 5 gene DOID:12849 autistic disorder ISO RGD:1346531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8836279 Spaca5 sperm acrosome associated 5 gene DOID:630 genetic disease ISO RGD:1346531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836287 Pdik1l PDLIM1 interacting kinase 1 like gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1352576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8836287 Pdik1l PDLIM1 interacting kinase 1 like gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1352576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8836287 Pdik1l PDLIM1 interacting kinase 1 like gene DOID:630 genetic disease ISO RGD:1352576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836296 Mettl1 methyltransferase 1, tRNA methylguanosine gene DOID:630 genetic disease ISO RGD:1352209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8836296 Mettl1 methyltransferase 1, tRNA methylguanosine gene DOID:6846 familial melanoma ISO RGD:1352209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8836306 Ltb lymphotoxin beta gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8836306 Ltb lymphotoxin beta gene DOID:11372 megacolon ISO RGD:1353964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8836306 Ltb lymphotoxin beta gene DOID:2773 contact dermatitis ISO RGD:1551006 D RGD:9068941 20200609 RGD PMID:11390430|REF_RGD_ID:8548819 8836306 Ltb lymphotoxin beta gene DOID:630 genetic disease ISO RGD:1353964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836306 Ltb lymphotoxin beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8836306 Ltb lymphotoxin beta gene DOID:9111 cutaneous leishmaniasis ISO RGD:1551006 D RGD:9068941 20200609 RGD PMID:17911622|REF_RGD_ID:8548820 8836306 Ltb lymphotoxin beta gene DOID:9146 visceral leishmaniasis ISO RGD:1551006 D RGD:9068941 20200609 RGD PMID:12115620|REF_RGD_ID:8548822 8836320 Glis2 GLIS family zinc finger 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8836320 Glis2 GLIS family zinc finger 2 gene DOID:0111112 nephronophthisis 1 ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 8836320 Glis2 GLIS family zinc finger 2 gene DOID:0111116 nephronophthisis 7 ISO RGD:1345602 D RGD:7240710 20180130 OMIM 8836320 Glis2 GLIS family zinc finger 2 gene DOID:0111116 nephronophthisis 7 ISO RGD:1345602 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Nephronophthisis 7 PMID:17618285|PMID:23559409|PMID:25741868|PMID:26374130|PMID:28492532|PMID:34917135 8836320 Glis2 GLIS family zinc finger 2 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8836320 Glis2 GLIS family zinc finger 2 gene DOID:1059 intellectual disability ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8836320 Glis2 GLIS family zinc finger 2 gene DOID:12712 nephronophthisis ISO RGD:1345602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17618285|PMID:23559409|PMID:25741868|PMID:26374130|PMID:28492532 8836320 Glis2 GLIS family zinc finger 2 gene DOID:1826 epilepsy ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8836320 Glis2 GLIS family zinc finger 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345602 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8836320 Glis2 GLIS family zinc finger 2 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1345602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8836320 Glis2 GLIS family zinc finger 2 gene DOID:557 kidney disease ISO RGD:1345602 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 8836320 Glis2 GLIS family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1345602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8836320 Glis2 GLIS family zinc finger 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8836335 Me1 malic enzyme 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:736133 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 8836335 Me1 malic enzyme 1 gene DOID:0080600 COVID-19 ISO RGD:736133 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8836335 Me1 malic enzyme 1 gene DOID:0111953 immunodeficiency 23 ISO RGD:736133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 8836335 Me1 malic enzyme 1 gene DOID:630 genetic disease ISO RGD:736133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836335 Me1 malic enzyme 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 8836335 Me1 malic enzyme 1 gene DOID:9004657 Weight Gain ISO RGD:736133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8836335 Me1 malic enzyme 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3074 D RGD:9068941 20220224 RGD mRNA:increased expression:right ventricle PMID:23794090|REF_RGD_ID:151361111 8836335 Me1 malic enzyme 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8836335 Me1 malic enzyme 1 gene DOID:9970 obesity ISO RGD:736133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270708 8836357 Ptp4a3 protein tyrosine phosphatase 4A3 gene DOID:630 genetic disease ISO RGD:1318604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836357 Ptp4a3 protein tyrosine phosphatase 4A3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1318604 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23555575 8836376 Cfd complement factor D gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:736531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8836376 Cfd complement factor D gene DOID:10320 asbestosis ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22832039 8836376 Cfd complement factor D gene DOID:1556 arthus reaction ISO RGD:2498 D RGD:9068941 20200609 RGD PMID:10605043|REF_RGD_ID:1624328 8836376 Cfd complement factor D gene DOID:289 endometriosis ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8836376 Cfd complement factor D gene DOID:2921 glomerulonephritis ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14675043 8836376 Cfd complement factor D gene DOID:3770 pulmonary fibrosis ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22832039 8836376 Cfd complement factor D gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:736531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 8836376 Cfd complement factor D gene DOID:5119 ovarian cyst ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8836376 Cfd complement factor D gene DOID:5339 cyclic hematopoiesis ISO RGD:736531 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8836376 Cfd complement factor D gene DOID:6000 congestive heart failure ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8836376 Cfd complement factor D gene DOID:612 primary immunodeficiency disease ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11457876|PMID:16527897 8836376 Cfd complement factor D gene DOID:630 genetic disease ISO RGD:736531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8836376 Cfd complement factor D gene DOID:9001385 Complement Factor D Deficiency ISO RGD:736531 D RGD:7240710 20180130 OMIM 8836376 Cfd complement factor D gene DOID:9001385 Complement Factor D Deficiency ISO RGD:736531 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: CFD-related condition | ClinVar Annotator: match by term: Complement factor d deficiency PMID:11457876|PMID:25741868|PMID:28492532 8836376 Cfd complement factor D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8836376 Cfd complement factor D gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2498 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:8372111|REF_RGD_ID:1624344 8836376 Cfd complement factor D gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:736531 D RGD:9068941 20230831 RGD mRNA:decreased expression:leg blood vessel (human) PMID:22721676|REF_RGD_ID:401793723 8836376 Cfd complement factor D gene DOID:9008366 Meningococcal Infections ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16527897 8836376 Cfd complement factor D gene DOID:9008538 Neisseriaceae Infections ISO RGD:736531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11457876 8836376 Cfd complement factor D gene DOID:9970 obesity ISO RGD:2498 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:adipocyte, serum PMID:2197880|REF_RGD_ID:1624327 8836376 Cfd complement factor D gene DOID:9970 obesity ISO RGD:736531 D RGD:9068941 20200609 RGD PMID:14564690|REF_RGD_ID:1624324 8836391 Tbx19 T-box transcription factor 19 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1320875 D RGD:9068941 20231102 RGD DNA:SNP:: (rs1003502) (human) PMID:18438686|REF_RGD_ID:401851917 8836391 Tbx19 T-box transcription factor 19 gene DOID:0080150 adrenocorticotropic hormone deficiency ISO RGD:1320875 D RGD:7240710 20180130 OMIM 8836391 Tbx19 T-box transcription factor 19 gene DOID:0080150 adrenocorticotropic hormone deficiency ISO RGD:1320875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACTH deficiency PMID:11290323|PMID:12651888|PMID:15476446|PMID:15613420|PMID:17576681|PMID:17652218|PMID:22170728|PMID:25326635|PMID:25741868|PMID:2830787|PMID:28492532|PMID:33423260|PMID:9536098 8836391 Tbx19 T-box transcription factor 19 gene DOID:0111942 immunodeficiency 25 ISO RGD:1320875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 8836391 Tbx19 T-box transcription factor 19 gene DOID:1540 parathyroid carcinoma ISO RGD:1320875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8836391 Tbx19 T-box transcription factor 19 gene DOID:1574 alcohol use disorder ISO RGD:1320875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8836391 Tbx19 T-box transcription factor 19 gene DOID:630 genetic disease ISO RGD:1320875 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8836391 Tbx19 T-box transcription factor 19 gene DOID:655 inherited metabolic disorder ISO RGD:1320875 D RGD:9068941 20200609 RGD ACTH deficiency, OMIM:201400 PMID:11290323|REF_RGD_ID:1599334 8836391 Tbx19 T-box transcription factor 19 gene DOID:9000957 lymphatic malformation 6 ISO RGD:1320875 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 6 PMID:25741868 8836391 Tbx19 T-box transcription factor 19 gene DOID:9008622 Adrenal Insufficiency ISO RGD:1320875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal insufficiency 8836391 Tbx19 T-box transcription factor 19 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8836409 Guca1a guanylate cyclase activator 1A gene DOID:0050439 Usher syndrome ISO RGD:30301436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:11146732|PMID:28492532|PMID:30718709 8836409 Guca1a guanylate cyclase activator 1A gene DOID:0050444 infantile Refsum disease ISO RGD:30301436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8836409 Guca1a guanylate cyclase activator 1A gene DOID:0050572 cone-rod dystrophy ISO RGD:30301436 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:24352742|PMID:25741868|PMID:28492532|PMID:36909829 8836409 Guca1a guanylate cyclase activator 1A gene DOID:0050795 cone dystrophy ISO RGD:30301436 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY PMID:15505030|PMID:25741868|PMID:28492532 8836409 Guca1a guanylate cyclase activator 1A gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:30301436 D RGD:7240710 20200708 OMIM 8836409 Guca1a guanylate cyclase activator 1A gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:30301436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:11146732|PMID:11484154|PMID:15505030|PMID:15735604|PMID:15790869|PMID:15953638|PMID:18706439|PMID:19459154|PMID:23472098|PMID:24024198|PMID:24352742|PMID:24875811|PMID:25741868|PMID:26358777|PMID:26766544|PMID:28025326|PMID:28041643|PMID:28442884|PMID:28492532|PMID:28559085|PMID:29555955|PMID:30184081|PMID:30622141|PMID:30718709|PMID:31728034|PMID:31882816|PMID:31979372|PMID:32025184|PMID:33546218|PMID:9425045|PMID:9425234|PMID:9651312|PMID:9702199 8836409 Guca1a guanylate cyclase activator 1A gene DOID:10584 retinitis pigmentosa ISO RGD:30301436 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15505030|PMID:15953638|PMID:25741868|PMID:28041643|PMID:28492532|PMID:32025184|PMID:9425234|PMID:9651312|PMID:9702199 8836409 Guca1a guanylate cyclase activator 1A gene DOID:4448 macular degeneration ISO RGD:30301436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:11146732|PMID:15953638|PMID:28041643|PMID:28492532|PMID:30718709|PMID:9425234|PMID:9651312|PMID:9702199 8836409 Guca1a guanylate cyclase activator 1A gene DOID:630 genetic disease ISO RGD:30301436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8836409 Guca1a guanylate cyclase activator 1A gene DOID:8501 fundus dystrophy ISO RGD:30301436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15735604|PMID:15790869|PMID:15953638|PMID:23472098|PMID:24352742|PMID:24875811|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29555955|PMID:9425234|PMID:9651312|PMID:9702199 8836409 Guca1a guanylate cyclase activator 1A gene DOID:905 Zellweger syndrome ISO RGD:30301436 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8836421 Cst6 cystatin E/M gene DOID:0060713 autosomal recessive congenital ichthyosis 4B ISO RGD:733622 D RGD:9068941 20220825 MouseDO OMIM:242500 8836421 Cst6 cystatin E/M gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1352727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8836421 Cst6 cystatin E/M gene DOID:0111651 ectodermal dysplasia 15 ISO RGD:1352727 D RGD:7240710 20190904 OMIM 8836421 Cst6 cystatin E/M gene DOID:0111651 ectodermal dysplasia 15 ISO RGD:1352727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type PMID:25741868|PMID:30425301 8836421 Cst6 cystatin E/M gene DOID:1059 intellectual disability ISO RGD:1352727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8836421 Cst6 cystatin E/M gene DOID:1909 melanoma ISO RGD:1352727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8836421 Cst6 cystatin E/M gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8836421 Cst6 cystatin E/M gene DOID:2746 glycogen storage disease V ISO RGD:1352727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8836421 Cst6 cystatin E/M gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 8836421 Cst6 cystatin E/M gene DOID:630 genetic disease ISO RGD:1352727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836421 Cst6 cystatin E/M gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19503093 8836421 Cst6 cystatin E/M gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8836421 Cst6 cystatin E/M gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8836421 Cst6 cystatin E/M gene DOID:9008939 Breast Neoplasms ISO RGD:1352727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043665 8836432 Pvalb parvalbumin gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8836432 Pvalb parvalbumin gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735961 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8836432 Pvalb parvalbumin gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8836432 Pvalb parvalbumin gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8836432 Pvalb parvalbumin gene DOID:2468 psychotic disorder ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8836432 Pvalb parvalbumin gene DOID:3312 bipolar disorder ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8836432 Pvalb parvalbumin gene DOID:4450 renal cell carcinoma ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16927643 8836432 Pvalb parvalbumin gene DOID:5389 oxyphilic adenoma ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16927643 8836432 Pvalb parvalbumin gene DOID:5419 schizophrenia ISO RGD:735961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8836432 Pvalb parvalbumin gene DOID:630 genetic disease ISO RGD:735961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836441 Sub1 SUB1 regulator of transcription gene DOID:630 genetic disease ISO RGD:1605698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836441 Sub1 SUB1 regulator of transcription gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8836456 Ago1 argonaute RISC component 1 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1312163 D RGD:9068941 20231116 RGD DNA:SNP:intron:A>G(rs595961)(human) PMID:25495208|REF_RGD_ID:401900681 8836456 Ago1 argonaute RISC component 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8836456 Ago1 argonaute RISC component 1 gene DOID:1059 intellectual disability ISO RGD:1312163 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25356899|PMID:25741868|PMID:27620904|PMID:28492532|PMID:30213762|PMID:34930816 8836456 Ago1 argonaute RISC component 1 gene DOID:1790 malignant mesothelioma ISO RGD:1312163 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8836456 Ago1 argonaute RISC component 1 gene DOID:630 genetic disease ISO RGD:1312163 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836456 Ago1 argonaute RISC component 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312163 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23020937|PMID:25741868|PMID:30213762|PMID:34930816 8836456 Ago1 argonaute RISC component 1 gene DOID:9006049 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1312163 D RGD:7240710 20230505 OMIM 8836456 Ago1 argonaute RISC component 1 gene DOID:9006049 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES ISO RGD:1312163 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures PMID:23020937|PMID:25356899|PMID:25741868|PMID:27620904|PMID:28492532|PMID:30213762|PMID:34930816 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:731036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:33200460 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:0050700 cardiomyopathy ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17008600 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:0050852 limb ischemia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:26604244|REF_RGD_ID:13514042 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:1059 intellectual disability ISO RGD:731036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:10762 portal hypertension ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell, liver sinusoid PMID:16142243|REF_RGD_ID:1580269 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:10762 portal hypertension treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:25469036|REF_RGD_ID:13514048 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:10763 hypertension ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte, vascular associated smooth muscle cell PMID:10642272|REF_RGD_ID:1625788 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:10763 hypertension ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11901213 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:10763 hypertension treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:23913704|REF_RGD_ID:13792716 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:1287 cardiovascular system disease ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26032411 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:14115 toxic shock syndrome ISO RGD:731036 D RGD:9068941 20210507 RGD mRNA:decreased expression:polymorphonuclear leukocyte PMID:24465168|REF_RGD_ID:126848796 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:2062 D RGD:9068941 20200609 RGD Protein: decreased expression: brain PMID:17996024|REF_RGD_ID:5685370 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:1875 impotence ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:30226217|REF_RGD_ID:13792691 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:2559 opiate dependence ISO RGD:731036 D RGD:9068941 20231214 RGD protein:decreased expression:pre-frontal cortex PMID:14969742|REF_RGD_ID:401901596 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:3042 allergic contact dermatitis ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:3829 pituitary adenoma ISO RGD:731036 D RGD:9068941 20200609 RGD mRNA:altered expression:pituitary gland (human) PMID:24169548|REF_RGD_ID:13792706 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:4195 hyperglycemia ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16478977|REF_RGD_ID:1625789 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:5082 liver cirrhosis ISO RGD:731036 D RGD:9068941 20200609 RGD associated with hepatitis B;protein:increased expression:mesenteric artery (human) PMID:23742775|REF_RGD_ID:13792718 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:5082 liver cirrhosis ISO RGD:731036 D RGD:9068941 20231214 RGD protein:increased expression:hepatic artery PMID:17256744|REF_RGD_ID:1625784 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:11331748|REF_RGD_ID:737776 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Hypertrophy, Left Ventricular and Hypertension;protein:increased expression, increased activity:heart left ventricle, cytosol (rat) PMID:9931137|REF_RGD_ID:1625790 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure ISO RGD:731036 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:26248277|REF_RGD_ID:11535540 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:6000 congestive heart failure treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:29247373|REF_RGD_ID:13506830 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:630 genetic disease ISO RGD:731036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:10111 D RGD:9068941 20200609 RGD DNA: deletion: : heterozygous PMID:18662895|REF_RGD_ID:5688373 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10094932 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731036 D RGD:9068941 20200609 RGD protein: decreased expression: mononuclear leukocytes PMID:10094932|REF_RGD_ID:5688380 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:874 bacterial pneumonia ISO RGD:731036 D RGD:9068941 20210507 RGD mRNA:decreased expression:polymorphonuclear leukocyte PMID:24465168|REF_RGD_ID:126848796 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9000352 Vascular System Injuries ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:28653218|REF_RGD_ID:13513975 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:17256744|REF_RGD_ID:1625784 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:23196710|REF_RGD_ID:13792785 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia severity ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:22796071|REF_RGD_ID:13792780 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:26064176|REF_RGD_ID:13514046 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Complex Regional Pain Syndromes PMID:25466829|REF_RGD_ID:13514049 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD associated with bone cancer PMID:26935064|REF_RGD_ID:13513996 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:30024944|REF_RGD_ID:13792695 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:28653218|REF_RGD_ID:13513975 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002457 Experimental Arthritis disease_progression ISO RGD:2062 D RGD:9068941 20200609 RGD protein:altered expression:T cell (rat) PMID:28349925|REF_RGD_ID:13513979 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:28631356|REF_RGD_ID:13513976 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:731036 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9003936 Cardiomegaly ISO RGD:10111 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (mouse) PMID:23969695|REF_RGD_ID:13792712 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9003936 Cardiomegaly ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11901213 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9003936 Cardiomegaly severity ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:25982117|REF_RGD_ID:11052788 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9004484 Sepsis ISO RGD:731036 D RGD:9068941 20200609 RGD protein: increased expression: neutrophils PMID:16849637|REF_RGD_ID:5688378 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:9618528|REF_RGD_ID:737775 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731036 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:lymphocyte PMID:15097244|REF_RGD_ID:1625786 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy severity ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:28759639|REF_RGD_ID:13513977 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:26224342|REF_RGD_ID:11534182 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9004994 Embryo Loss ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17008600 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731036 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:23727505|REF_RGD_ID:13792719 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9005835 Congenital Abnormalities ISO RGD:731036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17008600 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9005968 Neuralgia treatment ISO RGD:2062 D RGD:9068941 20200609 RGD PMID:24216329|REF_RGD_ID:13792703 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:2062 D RGD:9068941 20200609 RGD protein:increased activity:heart right ventricel (rat) PMID:23124027|REF_RGD_ID:13792786 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9006202 Pruritus severity ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:29530536|REF_RGD_ID:13513974 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007692 Insulin Resistance ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:15994203|REF_RGD_ID:1625791 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007730 Burns ISO RGD:2062 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (rat) PMID:29232706|REF_RGD_ID:13506829 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10111 D RGD:9068941 20200609 RGD protein:increased expression:heart, mitochondrion (mouse) PMID:23467820|REF_RGD_ID:13792779 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury severity ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:24170934|REF_RGD_ID:13792704 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury susceptibility ISO RGD:10111 D RGD:9068941 20200609 RGD PMID:27601479|REF_RGD_ID:13513993 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:27865836|REF_RGD_ID:13513990 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2062 D RGD:9068941 20200609 RGD associated with Hypertension PMID:27296507|REF_RGD_ID:13513995 8836503 Grk2 G protein-coupled receptor kinase 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731036 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8836538 Fbxl17 F-box and leucine rich repeat protein 17 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8836538 Fbxl17 F-box and leucine rich repeat protein 17 gene DOID:630 genetic disease ISO RGD:1348950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836538 Fbxl17 F-box and leucine rich repeat protein 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8836538 Fbxl17 F-box and leucine rich repeat protein 17 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8836538 Fbxl17 F-box and leucine rich repeat protein 17 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8836559 Ugdh UDP-glucose 6-dehydrogenase gene DOID:0112219 developmental and epileptic encephalopathy 84 ISO RGD:734073 D RGD:7240710 20200318 OMIM 8836559 Ugdh UDP-glucose 6-dehydrogenase gene DOID:0112219 developmental and epileptic encephalopathy 84 ISO RGD:734073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 84 PMID:25741868|PMID:32001716|PMID:32860008 8836559 Ugdh UDP-glucose 6-dehydrogenase gene DOID:630 genetic disease ISO RGD:734073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836559 Ugdh UDP-glucose 6-dehydrogenase gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:734073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency PMID:28492532 8836559 Ugdh UDP-glucose 6-dehydrogenase gene DOID:9001793 Generalized Epilepsy ISO RGD:734073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32001716|PMID:32860008 8836559 Ugdh UDP-glucose 6-dehydrogenase gene DOID:9007188 Liver Neoplasms ISO RGD:734073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 8836577 Scly selenocysteine lyase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1343598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8836577 Scly selenocysteine lyase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1343598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8836577 Scly selenocysteine lyase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1343598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8836577 Scly selenocysteine lyase gene DOID:1059 intellectual disability ISO RGD:1343598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8836577 Scly selenocysteine lyase gene DOID:630 genetic disease ISO RGD:1343598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836577 Scly selenocysteine lyase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1343598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8836594 Rab9b RAB9B, member RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8836594 Rab9b RAB9B, member RAS oncogene family gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1353231 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10319897|PMID:10417279|PMID:11093273|PMID:12601703|PMID:12910435|PMID:1384324|PMID:14452137|PMID:14745569|PMID:15450775|PMID:15712223|PMID:16199547|PMID:16287154|PMID:16380909|PMID:16844304|PMID:17438221|PMID:17576681|PMID:18160035|PMID:18414213|PMID:18470932|PMID:19328639|PMID:19825935|PMID:19955111|PMID:20022439|PMID:21679407|PMID:22016529|PMID:22101368|PMID:22343157|PMID:22695888|PMID:23344956|PMID:23347225|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:24890387|PMID:24936452|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26786043|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28366443|PMID:28492532|PMID:29451896|PMID:30314286|PMID:30337681|PMID:33504798|PMID:34782662|PMID:35012964|PMID:3827224|PMID:7488049|PMID:7522741|PMID:7531827|PMID:7539212|PMID:7679906|PMID:8012387|PMID:8320699|PMID:8723686|PMID:8786077|PMID:8956049|PMID:9056547|PMID:9106132|PMID:9247276|PMID:9427151|PMID:9489796|PMID:9536098|PMID:9634530|PMID:9934976 8836594 Rab9b RAB9B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8836594 Rab9b RAB9B, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8836594 Rab9b RAB9B, member RAS oncogene family gene DOID:2476 hereditary spastic paraplegia ISO RGD:1353231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10319897|PMID:15712223|PMID:25741868|PMID:26467025|PMID:28492532 8836594 Rab9b RAB9B, member RAS oncogene family gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1353231 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild PMID:10319897|PMID:10417279|PMID:11071483|PMID:11093273|PMID:12297985|PMID:12605435|PMID:12910435|PMID:1376966|PMID:1384324|PMID:15712223|PMID:1605230|PMID:16380909|PMID:16778599|PMID:1707231|PMID:1715570|PMID:1720927|PMID:18414213|PMID:18470932|PMID:18835559|PMID:19396823|PMID:20022439|PMID:20301361|PMID:21679407|PMID:22016529|PMID:22343157|PMID:22695888|PMID:23347225|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:25326635|PMID:25491635|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26786043|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28286750|PMID:28492532|PMID:29451896|PMID:31690835|PMID:3827224|PMID:7488049|PMID:7573159|PMID:7574457|PMID:7683951|PMID:8696336|PMID:8723686|PMID:8786077|PMID:9056547|PMID:9482656|PMID:9633722|PMID:9634530 8836594 Rab9b RAB9B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1353231 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10401787|PMID:10417279|PMID:12910435|PMID:17576681|PMID:17962415|PMID:18414213|PMID:18470932|PMID:20022439|PMID:22343157|PMID:23347225|PMID:23771846|PMID:25491635|PMID:25741868|PMID:26467025|PMID:26786043|PMID:26795593|PMID:28492532|PMID:29451896|PMID:30337681|PMID:8786077|PMID:9536098 8836594 Rab9b RAB9B, member RAS oncogene family gene DOID:9007428 Muscle Spasticity ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity 8836594 Rab9b RAB9B, member RAS oncogene family gene DOID:9008086 Developmental Disabilities ISO RGD:1353231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8836600 Rfc4 replication factor C subunit 4 gene DOID:0060575 3MC syndrome 1 ISO RGD:1320871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 8836600 Rfc4 replication factor C subunit 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1320871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8836600 Rfc4 replication factor C subunit 4 gene DOID:630 genetic disease ISO RGD:1320871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836600 Rfc4 replication factor C subunit 4 gene DOID:9006205 Animal Disease Models ISO RGD:1320871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8836628 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8836628 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1604617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8836628 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:1380 endometrial cancer ISO RGD:1332254 D RGD:9068941 20220825 MouseDO OMIM:608089 8836628 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:289 endometriosis ISO RGD:1604617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8836628 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:630 genetic disease ISO RGD:1604617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836628 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:8398 osteoarthritis ISO RGD:1332254 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 8836628 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1307599 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney: PMID:10749885|REF_RGD_ID:9685546 8836628 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:9003936 Cardiomegaly ISO RGD:1332254 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:19204184|REF_RGD_ID:9685562 8836628 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1307599 D RGD:9068941 20200609 RGD PMID:19204184|REF_RGD_ID:9685562 8836628 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8836628 Errfi1 ERBB receptor feedback inhibitor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28688920 8836636 Acad8 acyl-CoA dehydrogenase family member 8 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1344764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8836636 Acad8 acyl-CoA dehydrogenase family member 8 gene DOID:5419 schizophrenia ISO RGD:1344764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8836636 Acad8 acyl-CoA dehydrogenase family member 8 gene DOID:630 genetic disease ISO RGD:1344764 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16857760|PMID:17304052|PMID:17576681|PMID:24635911|PMID:25741868|PMID:28492532|PMID:32778825|PMID:33432785|PMID:9536098 8836636 Acad8 acyl-CoA dehydrogenase family member 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8836636 Acad8 acyl-CoA dehydrogenase family member 8 gene DOID:9000918 Disease Progression ISO RGD:1344764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8836636 Acad8 acyl-CoA dehydrogenase family member 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8836636 Acad8 acyl-CoA dehydrogenase family member 8 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1344764 D RGD:7240710 20180130 OMIM 8836636 Acad8 acyl-CoA dehydrogenase family member 8 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1344764 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:12359132|PMID:15505379|PMID:16199547|PMID:16857760|PMID:17304052|PMID:17576681|PMID:17924841|PMID:21109224|PMID:23255084|PMID:24635911|PMID:25333069|PMID:25689098|PMID:25741868|PMID:28053874|PMID:28492532|PMID:30253142|PMID:30626930|PMID:31813752|PMID:32778825|PMID:33432785|PMID:34544473|PMID:35154245|PMID:9536098|PMID:9889013 8836666 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:0080237 autosomal dominant intellectual developmental disorder 46 ISO RGD:1351630 D RGD:7240710 20190315 OMIM 8836666 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:0080237 autosomal dominant intellectual developmental disorder 46 ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 46 | ClinVar Annotator: match by term: KCNQ5-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 PMID:25741868|PMID:28492532|PMID:28669405 8836666 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:10283 prostate cancer ISO RGD:1351630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 8836666 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:1059 intellectual disability ISO RGD:1351630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8836666 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:11830 myopia ISO RGD:1351630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 8836666 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:1826 epilepsy ISO RGD:1351630 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8836666 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:3659 sialuria ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 8836666 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1351630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28189443 8836666 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:630 genetic disease ISO RGD:1351630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18004376|PMID:25741868|PMID:25741879|PMID:27602407|PMID:28492532|PMID:28669405 8836666 Kcnq5 potassium voltage-gated channel subfamily Q member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1351630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741879 8836685 CUNH5orf34 chromosome unknown C5orf34 homolog gene DOID:630 genetic disease ISO RGD:1601916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836685 CUNH5orf34 chromosome unknown C5orf34 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8836704 St8sia3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 gene DOID:630 genetic disease ISO RGD:1606293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836714 Ak4 adenylate kinase 4 gene DOID:0080600 COVID-19 ISO RGD:1606591 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8836714 Ak4 adenylate kinase 4 gene DOID:1059 intellectual disability ISO RGD:1606591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8836714 Ak4 adenylate kinase 4 gene DOID:12556 acute kidney tubular necrosis ISO RGD:2078 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:21152904|REF_RGD_ID:5134352 8836714 Ak4 adenylate kinase 4 gene DOID:630 genetic disease ISO RGD:1606591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836714 Ak4 adenylate kinase 4 gene DOID:8398 osteoarthritis ISO RGD:1606591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8836714 Ak4 adenylate kinase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2078 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:16538043|REF_RGD_ID:2301096 8836725 Bcan brevican gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8836725 Bcan brevican gene DOID:0111940 immunodeficiency 42 ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8836725 Bcan brevican gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8836725 Bcan brevican gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736888 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8836725 Bcan brevican gene DOID:10584 retinitis pigmentosa severity ISO RGD:736888 D RGD:9068941 20200609 RGD PMID:29150673|REF_RGD_ID:14392802 8836725 Bcan brevican gene DOID:10652 Alzheimer's disease ISO RGD:10227 D RGD:9068941 20200609 RGD protein:altered modification:brain PMID:20180882|REF_RGD_ID:14392785 8836725 Bcan brevican gene DOID:1540 parathyroid carcinoma ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8836725 Bcan brevican gene DOID:3070 high grade glioma ISO RGD:2194 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:12799382|REF_RGD_ID:14392782 8836725 Bcan brevican gene DOID:3070 high grade glioma ISO RGD:736888 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:16061654|REF_RGD_ID:14392797 8836725 Bcan brevican gene DOID:3070 high grade glioma severity ISO RGD:2194 D RGD:9068941 20200609 RGD PMID:11585735|REF_RGD_ID:14392783 8836725 Bcan brevican gene DOID:3070 high grade glioma severity ISO RGD:736888 D RGD:9068941 20200609 RGD PMID:23253190|REF_RGD_ID:14392804 8836725 Bcan brevican gene DOID:3525 middle cerebral artery infarction ISO RGD:2194 D RGD:9068941 20200609 RGD PMID:15869933|REF_RGD_ID:9590118 8836725 Bcan brevican gene DOID:5812 MHC class II deficiency ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8836725 Bcan brevican gene DOID:630 genetic disease ISO RGD:736888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836725 Bcan brevican gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2194 D RGD:9068941 20200609 RGD PMID:15016081|REF_RGD_ID:9589823 8836725 Bcan brevican gene DOID:9000115 Posthemorrhagic Hydrocephalus treatment ISO RGD:736888 D RGD:9068941 20200609 RGD PMID:22186713|REF_RGD_ID:6483013 8836725 Bcan brevican gene DOID:9002189 High Myopia ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8836725 Bcan brevican gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2194 D RGD:9068941 20200609 RGD PMID:15817274|REF_RGD_ID:14392799 8836725 Bcan brevican gene DOID:9008941 Muscle Hypertonia ISO RGD:12122555 D RGD:9068941 20230128 OMIA Episodic falling PMID:15971896|PMID:21821125|PMID:22253609|PMID:25441627|PMID:30650096|PMID:36086931|PMID:3680644|PMID:3716135|PMID:6868317 8836725 Bcan brevican gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8836750 Sh3bp1 SH3 domain binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8836750 Sh3bp1 SH3 domain binding protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1314801 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8836750 Sh3bp1 SH3 domain binding protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1314801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8836750 Sh3bp1 SH3 domain binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1314801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8836750 Sh3bp1 SH3 domain binding protein 1 gene DOID:630 genetic disease ISO RGD:1314801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836777 Nacad NAC alpha domain containing gene DOID:0060670 cerebral cavernous malformation 2 ISO RGD:1625090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 2 PMID:17160895|PMID:28492532 8836777 Nacad NAC alpha domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1625090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8836777 Nacad NAC alpha domain containing gene DOID:630 genetic disease ISO RGD:1625090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836794 Purb purine rich element binding protein B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8836794 Purb purine rich element binding protein B gene DOID:630 genetic disease ISO RGD:1353565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836799 Pdzd9 PDZ domain containing 9 gene DOID:0060399 chromosome 16p12.1 deletion syndrome ISO RGD:1604496 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb PMID:25741868 8836799 Pdzd9 PDZ domain containing 9 gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1604496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:23281071|PMID:25741868|PMID:28275242|PMID:28492532 8836799 Pdzd9 PDZ domain containing 9 gene DOID:12849 autistic disorder ISO RGD:1604496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8836799 Pdzd9 PDZ domain containing 9 gene DOID:5419 schizophrenia ISO RGD:1604496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8836799 Pdzd9 PDZ domain containing 9 gene DOID:630 genetic disease ISO RGD:1604496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836808 Znf827 zinc finger protein 827 gene DOID:0060041 autism spectrum disorder ISO RGD:1606144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8836808 Znf827 zinc finger protein 827 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1606144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 8836808 Znf827 zinc finger protein 827 gene DOID:630 genetic disease ISO RGD:1606144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836832 Fgb fibrinogen beta chain gene DOID:0060903 thrombosis ISO RGD:734251 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Thrombus PMID:10688828|PMID:19420351|PMID:20978265|PMID:24033266|PMID:25741868|PMID:26105150|PMID:26561523|PMID:28492532|PMID:31064749|PMID:32935436|PMID:33477601 8836832 Fgb fibrinogen beta chain gene DOID:0060903 thrombosis susceptibility ISO RGD:734251 D RGD:9068941 20200609 RGD associated with Lupus Nephritis;;DNA:polymorphism: :-455G>A (human) PMID:17469143|REF_RGD_ID:7175506 8836832 Fgb fibrinogen beta chain gene DOID:11476 osteoporosis ISO RGD:734251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8836832 Fgb fibrinogen beta chain gene DOID:1287 cardiovascular system disease disease_progression ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:18278190|REF_RGD_ID:5688760 8836832 Fgb fibrinogen beta chain gene DOID:14330 Parkinson's disease ISO RGD:734251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23233872 8836832 Fgb fibrinogen beta chain gene DOID:1588 thrombocytopenia ISO RGD:734251 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10688828|PMID:19420351|PMID:20978265|PMID:24033266|PMID:25741868|PMID:26105150|PMID:26561523|PMID:28492532|PMID:31064749|PMID:32935436|PMID:33477601 8836832 Fgb fibrinogen beta chain gene DOID:2213 hemorrhagic disease ISO RGD:734251 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10688828|PMID:19420351|PMID:20978265|PMID:24033266|PMID:25741868|PMID:26105150|PMID:26561523|PMID:28492532|PMID:31064749|PMID:32935436|PMID:33477601 8836832 Fgb fibrinogen beta chain gene DOID:2236 congenital afibrinogenemia ISO RGD:734251 D RGD:7240710 20180130 OMIM 8836832 Fgb fibrinogen beta chain gene DOID:2236 congenital afibrinogenemia ISO RGD:734251 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: FGB-related condition | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10666208|PMID:10688828|PMID:11468164|PMID:12161363|PMID:12393540|PMID:12573244|PMID:15070683|PMID:1565641|PMID:15795540|PMID:19420351|PMID:20978265|PMID:21713329|PMID:22273812|PMID:22353194|PMID:22836883|PMID:23061815|PMID:24033266|PMID:24679643|PMID:25320241|PMID:25592583|PMID:25741868|PMID:26105150|PMID:26561523|PMID:27164460|PMID:28492532|PMID:30349899|PMID:31064749|PMID:31314131|PMID:3194892|PMID:32935436|PMID:33477601|PMID:34355501 8836832 Fgb fibrinogen beta chain gene DOID:2945 severe acute respiratory syndrome ISO RGD:734252 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 8836832 Fgb fibrinogen beta chain gene DOID:3393 coronary artery disease ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:8565160|REF_RGD_ID:1580382 8836832 Fgb fibrinogen beta chain gene DOID:3407 carotid artery disease ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:9514419|REF_RGD_ID:1580383 8836832 Fgb fibrinogen beta chain gene DOID:4989 pancreatitis ISO RGD:2604 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, rough endoplasmic reticulum PMID:19954227|REF_RGD_ID:5688770 8836832 Fgb fibrinogen beta chain gene DOID:5844 myocardial infarction ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:9437197|REF_RGD_ID:1580381 8836832 Fgb fibrinogen beta chain gene DOID:630 genetic disease ISO RGD:734251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8836832 Fgb fibrinogen beta chain gene DOID:783 end stage renal disease treatment ISO RGD:734251 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism: :-455G>A (human) PMID:19352213|REF_RGD_ID:7175505 8836832 Fgb fibrinogen beta chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:734251 D RGD:7240710 20180130 OMIM 8836832 Fgb fibrinogen beta chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:734251 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dysfibrinogenemia, congenital PMID:10688828|PMID:19229055|PMID:19420351|PMID:20978265|PMID:21959590|PMID:24033266|PMID:25741868|PMID:26105150|PMID:26561523|PMID:28492532|PMID:31064749|PMID:32935436|PMID:33477601 8836832 Fgb fibrinogen beta chain gene DOID:9003871 Venous Thrombosis ISO RGD:734251 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:12573244|PMID:15795540|PMID:25741868|PMID:28492532|PMID:31064749 8836832 Fgb fibrinogen beta chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:734251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 2 | ClinVar Annotator: match by term: FIBRINOGEN CHRISTCHURCH 2 | ClinVar Annotator: match by term: FIBRINOGEN LONGMONT PMID:11468164|PMID:1565641|PMID:23061815|PMID:24679643|PMID:25320241|PMID:25741868|PMID:28492532|PMID:31064749|PMID:31314131|PMID:3194892 8836832 Fgb fibrinogen beta chain gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2604 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:21685370|REF_RGD_ID:7175292 8836832 Fgb fibrinogen beta chain gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:734251 D RGD:9068941 20200609 RGD PMID:21685370|REF_RGD_ID:7175292 8836832 Fgb fibrinogen beta chain gene DOID:9007096 Stroke ISO RGD:734251 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:1565641|PMID:23061815|PMID:24679643|PMID:25320241|PMID:25741868|PMID:31064749|PMID:31314131 8836832 Fgb fibrinogen beta chain gene DOID:9007096 Stroke susceptibility ISO RGD:734251 D RGD:9068941 20200609 RGD DNA:SNP:promoter:1038G>A (rs1800791) (human) PMID:18278190|REF_RGD_ID:5688760 8836832 Fgb fibrinogen beta chain gene DOID:9007096 Stroke susceptibility ISO RGD:734251 D RGD:9068941 20200609 RGD DNA:polymorphism: :-455G>A(human) PMID:24107890|REF_RGD_ID:10450767 8836832 Fgb fibrinogen beta chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:734251 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:7974333|REF_RGD_ID:2312416 8836832 Fgb fibrinogen beta chain gene DOID:9477 pulmonary embolism ISO RGD:2604 D RGD:9068941 20200609 RGD protein:increased expression:blood microparticle PMID:22014850|REF_RGD_ID:5688769 8836856 Rergl RERG like gene DOID:10283 prostate cancer ISO RGD:1602860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8836856 Rergl RERG like gene DOID:630 genetic disease ISO RGD:1602860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836866 Cst11 cystatin 11 gene DOID:630 genetic disease ISO RGD:735574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836874 Heca hdc homolog, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1312483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836874 Heca hdc homolog, cell cycle regulator gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1312483 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8836892 Kank3 KN motif and ankyrin repeat domains 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1602171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 8836892 Kank3 KN motif and ankyrin repeat domains 3 gene DOID:0080600 COVID-19 ISO RGD:1602171 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8836892 Kank3 KN motif and ankyrin repeat domains 3 gene DOID:12849 autistic disorder ISO RGD:1602171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8836892 Kank3 KN motif and ankyrin repeat domains 3 gene DOID:630 genetic disease ISO RGD:1602171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836933 Dlgap2 DLG associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1345358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531469 8836933 Dlgap2 DLG associated protein 2 gene DOID:5419 schizophrenia ISO RGD:1345358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8836933 Dlgap2 DLG associated protein 2 gene DOID:630 genetic disease ISO RGD:1345358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8836967 Tmem231 transmembrane protein 231 gene DOID:0050777 Joubert syndrome ISO RGD:3008206 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:23012439|PMID:23169490|PMID:23349226|PMID:25741868|PMID:25869670|PMID:26123494|PMID:26489029|PMID:27449316|PMID:27711071|PMID:28492532|PMID:32055034|PMID:32386258|PMID:32552793|PMID:34354814 8836967 Tmem231 transmembrane protein 231 gene DOID:0050778 Meckel syndrome ISO RGD:3008206 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17576681|PMID:23349226|PMID:25558065|PMID:25741868|PMID:25869670|PMID:28492532|PMID:9536098 8836967 Tmem231 transmembrane protein 231 gene DOID:0060340 ciliopathy ISO RGD:3008206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliopathy PMID:25741868|PMID:25869670|PMID:28492532 8836967 Tmem231 transmembrane protein 231 gene DOID:0060373 orofaciodigital syndrome III ISO RGD:3008206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III PMID:25741868|PMID:25869670|PMID:26489029|PMID:28492532|PMID:34354814 8836967 Tmem231 transmembrane protein 231 gene DOID:0080205 CAKUT ISO RGD:3008206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:30143558 8836967 Tmem231 transmembrane protein 231 gene DOID:0110980 Joubert syndrome 1 ISO RGD:3008206 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868|PMID:28492532 8836967 Tmem231 transmembrane protein 231 gene DOID:0110989 Joubert syndrome 20 ISO RGD:3008206 D RGD:7240710 20180130 OMIM 8836967 Tmem231 transmembrane protein 231 gene DOID:0110989 Joubert syndrome 20 ISO RGD:3008206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:16199547|PMID:17576681|PMID:23012439|PMID:23349226|PMID:25640679|PMID:25741868|PMID:25869670|PMID:26477546|PMID:26489029|PMID:26982032|PMID:27449316|PMID:27894351|PMID:28289185|PMID:28492532|PMID:31054281|PMID:32055034|PMID:32386258|PMID:34354814|PMID:9536098 8836967 Tmem231 transmembrane protein 231 gene DOID:630 genetic disease ISO RGD:3008206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23012439|PMID:23349226|PMID:25741868|PMID:25869670|PMID:26489029|PMID:27449316|PMID:28492532|PMID:34354814 8836967 Tmem231 transmembrane protein 231 gene DOID:9007120 Meckel Syndrome 11 ISO RGD:3008206 D RGD:7240710 20180130 OMIM 8836967 Tmem231 transmembrane protein 231 gene DOID:9007120 Meckel Syndrome 11 ISO RGD:3008206 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 11 PMID:16199547|PMID:17576681|PMID:23012439|PMID:23169490|PMID:23349226|PMID:25558065|PMID:25741868|PMID:25869670|PMID:26123494|PMID:26489029|PMID:27711071|PMID:28492532|PMID:30143558|PMID:32055034|PMID:32386258|PMID:32552793|PMID:34354814|PMID:9536098 8836967 Tmem231 transmembrane protein 231 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3008206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8836978 Klhl32 kelch like family member 32 gene DOID:630 genetic disease ISO RGD:1321228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837022 Cdk2ap1 cyclin dependent kinase 2 associated protein 1 gene DOID:630 genetic disease ISO RGD:1318567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837033 Stoml1 stomatin like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8837033 Stoml1 stomatin like 1 gene DOID:2717 Bloom syndrome ISO RGD:1347763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8837033 Stoml1 stomatin like 1 gene DOID:5419 schizophrenia ISO RGD:1347763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8837033 Stoml1 stomatin like 1 gene DOID:630 genetic disease ISO RGD:1347763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837033 Stoml1 stomatin like 1 gene DOID:9256 colorectal cancer ISO RGD:1347763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8837055 Ublcp1 ubiquitin like domain containing CTD phosphatase 1 gene DOID:630 genetic disease ISO RGD:1605293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837055 Ublcp1 ubiquitin like domain containing CTD phosphatase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8837074 Ei24 EI24 autophagy associated transmembrane protein gene DOID:0110877 holoprosencephaly 11 ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8837074 Ei24 EI24 autophagy associated transmembrane protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8837074 Ei24 EI24 autophagy associated transmembrane protein gene DOID:1059 intellectual disability ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8837074 Ei24 EI24 autophagy associated transmembrane protein gene DOID:5419 schizophrenia ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8837074 Ei24 EI24 autophagy associated transmembrane protein gene DOID:630 genetic disease ISO RGD:1320441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837074 Ei24 EI24 autophagy associated transmembrane protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8837074 Ei24 EI24 autophagy associated transmembrane protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8837074 Ei24 EI24 autophagy associated transmembrane protein gene DOID:9007661 Dwarfism ISO RGD:1320441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8837098 Gpn3 GPN-loop GTPase 3 gene DOID:630 genetic disease ISO RGD:1606002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837114 Nkx2-2 NK2 homeobox 2 gene DOID:3213 demyelinating disease ISO RGD:1308443 D RGD:9068941 20200609 RGD protein:increased expression:oligodendrocyte PMID:15048854|REF_RGD_ID:2306244 8837114 Nkx2-2 NK2 homeobox 2 gene DOID:630 genetic disease ISO RGD:1318213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837124 Ahcy adenosylhomocysteinase gene DOID:0050544 hypermethioninemia ISO RGD:731745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypermethioninemia PMID:25741868 8837124 Ahcy adenosylhomocysteinase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29127188 8837124 Ahcy adenosylhomocysteinase gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:731745 D RGD:7240710 20180130 OMIM 8837124 Ahcy adenosylhomocysteinase gene DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ISO RGD:731745 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase PMID:15024124|PMID:16435181|PMID:16736098|PMID:16872278|PMID:17576681|PMID:18211827|PMID:19177456|PMID:19619139|PMID:20385918|PMID:20852937|PMID:22959829|PMID:24033266|PMID:25473036|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:29205322|PMID:31957987|PMID:33072517|PMID:9536098 8837124 Ahcy adenosylhomocysteinase gene DOID:10763 hypertension ISO RGD:736014 D RGD:9068941 20200609 RGD associated with hyperhomocysteinemia PMID:16815886|REF_RGD_ID:1601153 8837124 Ahcy adenosylhomocysteinase gene DOID:2843 long QT syndrome ISO RGD:731745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8837124 Ahcy adenosylhomocysteinase gene DOID:3910 lung adenocarcinoma ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8837124 Ahcy adenosylhomocysteinase gene DOID:630 genetic disease ISO RGD:731745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15024124|PMID:16435181|PMID:16736098|PMID:16872278|PMID:18211827|PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:24033266|PMID:25473036|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:29205322|PMID:33072517 8837124 Ahcy adenosylhomocysteinase gene DOID:7693 abdominal aortic aneurysm susceptibility ISO RGD:731745 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes:intron: (rs819146, rs7271501) (human) PMID:18635682|REF_RGD_ID:329853746 8837124 Ahcy adenosylhomocysteinase gene DOID:8455 pyridoxine deficiency anemia ISO RGD:69260 D RGD:9068941 20200609 RGD PMID:11575573|REF_RGD_ID:1598897 8837124 Ahcy adenosylhomocysteinase gene DOID:893 Wilson disease ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8837124 Ahcy adenosylhomocysteinase gene DOID:9000884 Rhabdomyolysis ISO RGD:731745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:15024124|PMID:16435181|PMID:16736098|PMID:16872278|PMID:18211827|PMID:25473036|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:33072517 8837124 Ahcy adenosylhomocysteinase gene DOID:9002457 Experimental Arthritis ISO RGD:69260 D RGD:9068941 20200609 RGD PMID:11123369|REF_RGD_ID:1598898 8837124 Ahcy adenosylhomocysteinase gene DOID:9002669 Hypoxia ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 8837124 Ahcy adenosylhomocysteinase gene DOID:9003386 Sunburn ISO RGD:731745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR PMID:11833005|PMID:18488028 8837124 Ahcy adenosylhomocysteinase gene DOID:9003687 Multisystem Autoimmune Disease with Facial Dysmorphism ISO RGD:731745 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM PMID:28492532 8837124 Ahcy adenosylhomocysteinase gene DOID:9006205 Animal Disease Models ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8837124 Ahcy adenosylhomocysteinase gene DOID:9252 amino acid metabolic disorder ISO RGD:731745 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15024124 8837124 Ahcy adenosylhomocysteinase gene DOID:9279 hyperhomocysteinemia ISO RGD:69260 D RGD:9068941 20200609 RGD PMID:12208805|REF_RGD_ID:1598896 8837143 Raly RALY heterogeneous nuclear ribonucleoprotein gene DOID:2843 long QT syndrome ISO RGD:1316295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8837143 Raly RALY heterogeneous nuclear ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1316295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837143 Raly RALY heterogeneous nuclear ribonucleoprotein gene DOID:670 amphetamine abuse ISO RGD:1316295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8837161 Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1323046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8837161 Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:630 genetic disease ISO RGD:1323046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837161 Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1323046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8837161 Ralgps2 Ral GEF with PH domain and SH3 binding motif 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8837185 Gemin4 gem nuclear organelle associated protein 4 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1344278 D RGD:9068941 20231116 RGD DNA:SNP:Promoter:C>T(rs910924)(human) PMID:25495208|REF_RGD_ID:401900681 8837185 Gemin4 gem nuclear organelle associated protein 4 gene DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities ISO RGD:1344278 D RGD:7240710 20190918 OMIM 8837185 Gemin4 gem nuclear organelle associated protein 4 gene DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities ISO RGD:1344278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities PMID:25558065|PMID:25741868|PMID:27878435|PMID:30237576 8837185 Gemin4 gem nuclear organelle associated protein 4 gene DOID:10907 microcephaly ISO RGD:1344278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25558065|PMID:25741868|PMID:27878435 8837185 Gemin4 gem nuclear organelle associated protein 4 gene DOID:630 genetic disease ISO RGD:1344278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8837185 Gemin4 gem nuclear organelle associated protein 4 gene DOID:83 cataract ISO RGD:1344278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25558065|PMID:25741868|PMID:27878435 8837185 Gemin4 gem nuclear organelle associated protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1344278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:27878435 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908157|PMID:17261581 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:737226 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:737226 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:0081267 graft-versus-host disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15322151 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:10283 prostate cancer ISO RGD:737226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:12361 Graves' disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:1790 malignant mesothelioma ISO RGD:737226 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29984229 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:3087 gingivitis ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9379333 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:3308 embryonal carcinoma ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9111512 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8811349 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:630 genetic disease ISO RGD:737226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:820 myocarditis ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:8567 Hodgkin's lymphoma ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908157|PMID:12358914|PMID:12453859|PMID:16879607|PMID:17261581|PMID:7621881|PMID:8701986 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9000571 AIDS-Related Opportunistic Infections ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9379333 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9001415 Mycobacterium Infections ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15316035 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9002137 Infectious Ectromelia ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12235215 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9002884 Emphysema ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29984229 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9007355 Hashimoto Disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9008217 Hemorrhage ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29984229 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:934 viral infectious disease ISO RGD:737226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769|PMID:9826579 8837191 Tnfrsf8 TNF receptor superfamily member 8 gene DOID:9351 diabetes mellitus ISO RGD:737227 D RGD:9068941 20200609 RGD PMID:10192335|REF_RGD_ID:2312735 8837215 Csn3 casein kappa gene DOID:305 carcinoma ISO RGD:1349233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8837215 Csn3 casein kappa gene DOID:630 genetic disease ISO RGD:1349233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837215 Csn3 casein kappa gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1349233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8837215 Csn3 casein kappa gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1349233 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8837215 Csn3 casein kappa gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:61990 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 8837222 Lrrc19 leucine rich repeat containing 19 gene DOID:630 genetic disease ISO RGD:1350270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837231 Rcan3 RCAN family member 3 gene DOID:630 genetic disease ISO RGD:1323485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837252 Dnai7 dynein axonemal intermediate chain 7 gene DOID:1324 lung cancer ameliorates ISO RGD:1617228 D RGD:9068941 20220701 RGD DNA:missense mutation:CDS:p.N60S (mouse) PMID:14583591|REF_RGD_ID:152998907 8837252 Dnai7 dynein axonemal intermediate chain 7 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1617228 D RGD:9068941 20220701 RGD PMID:24860162|REF_RGD_ID:152998908 8837252 Dnai7 dynein axonemal intermediate chain 7 gene DOID:630 genetic disease ISO RGD:1322554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837252 Dnai7 dynein axonemal intermediate chain 7 gene DOID:9005172 Lung Neoplasms ISO RGD:1322554 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:15064703 8837252 Dnai7 dynein axonemal intermediate chain 7 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1617228 D RGD:9068941 20220630 RGD PMID:16862160|REF_RGD_ID:11340955 8837272 Hoxc8 homeobox C8 gene DOID:630 genetic disease ISO RGD:1353627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837272 Hoxc8 homeobox C8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8837278 Cplane2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:0050545 visceral heterotaxy ISO RGD:1618278 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8837278 Cplane2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603381 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8837278 Cplane2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:14679 VACTERL association ISO RGD:1618278 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 8837278 Cplane2 ciliogenesis and planar polarity effector complex subunit 2 gene DOID:630 genetic disease ISO RGD:1603381 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837287 Zcchc18 zinc finger CCHC-type containing 18 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2291777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8837287 Zcchc18 zinc finger CCHC-type containing 18 gene DOID:12849 autistic disorder ISO RGD:2291777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8837287 Zcchc18 zinc finger CCHC-type containing 18 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:2291777 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 8837287 Zcchc18 zinc finger CCHC-type containing 18 gene DOID:630 genetic disease ISO RGD:2291777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837302 Atg9b autophagy related 9B gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1352218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8837302 Atg9b autophagy related 9B gene DOID:2843 long QT syndrome ISO RGD:1352218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8837302 Atg9b autophagy related 9B gene DOID:5426 primary ovarian insufficiency ISO RGD:1352218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8837302 Atg9b autophagy related 9B gene DOID:630 genetic disease ISO RGD:1352218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837322 Gsg1 germ cell associated 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1315222 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8837322 Gsg1 germ cell associated 1 gene DOID:630 genetic disease ISO RGD:1315222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837334 Chac1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 gene DOID:10283 prostate cancer ISO RGD:1604291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8837334 Chac1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 gene DOID:2717 Bloom syndrome ISO RGD:1604291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8837334 Chac1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 gene DOID:630 genetic disease ISO RGD:1604291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837334 Chac1 ChaC glutathione specific gamma-glutamylcyclotransferase 1 gene DOID:9256 colorectal cancer ISO RGD:1604291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8837354 Hpse heparanase gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:736250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8837354 Hpse heparanase gene DOID:1909 melanoma ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22240343 8837354 Hpse heparanase gene DOID:2527 nephrosis ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16899518 8837354 Hpse heparanase gene DOID:2986 IgA glomerulonephritis ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8837354 Hpse heparanase gene DOID:630 genetic disease ISO RGD:736250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837354 Hpse heparanase gene DOID:9000965 Neoplasm Metastasis ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22240343 8837354 Hpse heparanase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15095483|PMID:18458672 8837354 Hpse heparanase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22240343 8837354 Hpse heparanase gene DOID:9008939 Breast Neoplasms ISO RGD:736250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391819 8837371 Zacn zinc activated ion channel gene DOID:630 genetic disease ISO RGD:1604695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837371 Zacn zinc activated ion channel gene DOID:9009012 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY ISO RGD:1604695 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy 8837390 Plk4 polo like kinase 4 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1313392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8837390 Plk4 polo like kinase 4 gene DOID:0080106 microcephaly and chorioretinopathy 2 ISO RGD:1313392 D RGD:7240710 20180130 OMIM 8837390 Plk4 polo like kinase 4 gene DOID:0080106 microcephaly and chorioretinopathy 2 ISO RGD:1313392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 PMID:17576681|PMID:25320347|PMID:25344692|PMID:25741868|PMID:28492532|PMID:30842647|PMID:9536098 8837390 Plk4 polo like kinase 4 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1313392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 8837390 Plk4 polo like kinase 4 gene DOID:10907 microcephaly ISO RGD:1313392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8837390 Plk4 polo like kinase 4 gene DOID:219 colon cancer ISO RGD:1313392 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:26439168|REF_RGD_ID:11075990 8837390 Plk4 polo like kinase 4 gene DOID:3007 breast ductal carcinoma ISO RGD:1313392 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:26439168|REF_RGD_ID:11075990 8837390 Plk4 polo like kinase 4 gene DOID:630 genetic disease ISO RGD:1313392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8837390 Plk4 polo like kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1313392 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:21324136|REF_RGD_ID:27226690 8837390 Plk4 polo like kinase 4 gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1313393 D RGD:9068941 20200609 RGD PMID:21324136|REF_RGD_ID:27226690 8837390 Plk4 polo like kinase 4 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1305390 D RGD:9068941 20231019 RGD PMID:33416109|REF_RGD_ID:401850543 8837390 Plk4 polo like kinase 4 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1313392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344692 8837390 Plk4 polo like kinase 4 gene DOID:9007661 Dwarfism ISO RGD:1313392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344692 8837421 Tmem199 transmembrane protein 199 gene DOID:0070268 congenital disorder of glycosylation type IIp ISO RGD:1348837 D RGD:7240710 20190315 OMIM 8837421 Tmem199 transmembrane protein 199 gene DOID:0070268 congenital disorder of glycosylation type IIp ISO RGD:1348837 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | ClinVar Annotator: match by term: TMEM199-CDG PMID:19067230|PMID:25741868|PMID:26639818|PMID:26833330|PMID:28492532|PMID:29321044 8837421 Tmem199 transmembrane protein 199 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1348837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation type II PMID:25741868|PMID:26833330|PMID:28492532|PMID:29321044 8837421 Tmem199 transmembrane protein 199 gene DOID:630 genetic disease ISO RGD:1348837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8837438 Dbp D-box binding PAR bZIP transcription factor gene DOID:11476 osteoporosis ISO RGD:733159 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 8837438 Dbp D-box binding PAR bZIP transcription factor gene DOID:630 genetic disease ISO RGD:733159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837453 Fkbp3 FKBP prolyl isomerase 3 gene DOID:13636 Fanconi anemia ISO RGD:1312751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 8837453 Fkbp3 FKBP prolyl isomerase 3 gene DOID:630 genetic disease ISO RGD:1312751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837453 Fkbp3 FKBP prolyl isomerase 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8837464 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1350541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8837464 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1350541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8837464 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:1324 lung cancer severity ISO RGD:1350541 D RGD:9068941 20230105 RGD PMID:33573689|REF_RGD_ID:155791670 8837464 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1350541 D RGD:9068941 20230105 RGD PMID:33573689|REF_RGD_ID:155791670 8837464 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5325 Roberts syndrome ISO RGD:1350541 D RGD:7240710 20180130 OMIM 8837464 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5325 Roberts syndrome ISO RGD:1350541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome PMID:15821733|PMID:16199547|PMID:16380922|PMID:1642282|PMID:16775838|PMID:18411254|PMID:18414213|PMID:19574259|PMID:20101700|PMID:20301332|PMID:24864645|PMID:25741868|PMID:26710928|PMID:28492532|PMID:30508616|PMID:30590172|PMID:31192177|PMID:31976146|PMID:3740099|PMID:495649 8837464 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 8837464 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:630 genetic disease ISO RGD:1350541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15821733|PMID:16380922|PMID:18414213|PMID:20101700|PMID:28492532 8837464 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1350541 D RGD:9068941 20230105 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:36104638|REF_RGD_ID:155791669 8837464 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1350541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 8837464 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1350541 D RGD:7240710 20210324 OMIM 8837464 Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1350541 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Juberg-Hayward syndrome PMID:18414213|PMID:20301332|PMID:25741868|PMID:28492532|PMID:32255174|PMID:32977150 8837483 Cpsf6 cleavage and polyadenylation specific factor 6 gene DOID:630 genetic disease ISO RGD:1312196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837505 Setd6 SET domain containing 6, protein lysine methyltransferase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605343 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8837505 Setd6 SET domain containing 6, protein lysine methyltransferase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605343 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8837505 Setd6 SET domain containing 6, protein lysine methyltransferase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8837505 Setd6 SET domain containing 6, protein lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1605343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837520 Zar1l zygote arrest 1 like gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:2311474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:29766361|PMID:31843900 8837520 Zar1l zygote arrest 1 like gene DOID:630 genetic disease ISO RGD:2311474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837526 Sgcz sarcoglycan zeta gene DOID:37 skin disease ISO RGD:1317183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 8837526 Sgcz sarcoglycan zeta gene DOID:630 genetic disease ISO RGD:1317183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837526 Sgcz sarcoglycan zeta gene DOID:670 amphetamine abuse ISO RGD:1317183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8837536 Ramp3 receptor activity modifying protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8837536 Ramp3 receptor activity modifying protein 3 gene DOID:630 genetic disease ISO RGD:737378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837536 Ramp3 receptor activity modifying protein 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737378 D RGD:9068941 20220421 RGD associated with colorectal cancer; protein:increased expression:lymph node (human) PMID:23634287|REF_RGD_ID:151708733 8837536 Ramp3 receptor activity modifying protein 3 gene DOID:9256 colorectal cancer ISO RGD:737378 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 8837543 Cldnd1 claudin domain containing 1 gene DOID:630 genetic disease ISO RGD:1349033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837581 Amh anti-Mullerian hormone gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:736161 D RGD:7240710 20180130 OMIM 8837581 Amh anti-Mullerian hormone gene DOID:0050791 persistent Mullerian duct syndrome ISO RGD:736161 D RGD:8554872 20240102 ClinVar ClinVar Annotator: match by term: AMH-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I PMID:11760020|PMID:1483695|PMID:1809231|PMID:2023927|PMID:24033266|PMID:2562843|PMID:25741868|PMID:28492532|PMID:28505284|PMID:28528332|PMID:30668521|PMID:30786001|PMID:31277073|PMID:31291191|PMID:32172781 8837581 Amh anti-Mullerian hormone gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:736161 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8837581 Amh anti-Mullerian hormone gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:736161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8837581 Amh anti-Mullerian hormone gene DOID:11612 polycystic ovary syndrome ISO RGD:736161 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17224152|REF_RGD_ID:1601181 8837581 Amh anti-Mullerian hormone gene DOID:13501 Moebius syndrome ISO RGD:736161 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:25741868|PMID:28492532 8837581 Amh anti-Mullerian hormone gene DOID:1612 breast cancer onset ISO RGD:736161 D RGD:9068941 20200609 RGD PMID:19820206|REF_RGD_ID:2315637 8837581 Amh anti-Mullerian hormone gene DOID:1923 disorder of sexual development susceptibility ISO RGD:736161 D RGD:9068941 20200609 RGD Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon PMID:1483695|REF_RGD_ID:1601180 8837581 Amh anti-Mullerian hormone gene DOID:2999 granulosa cell tumor disease_progression ISO RGD:736161 D RGD:9068941 20200609 RGD PMID:19359032|REF_RGD_ID:2315639 8837581 Amh anti-Mullerian hormone gene DOID:4001 ovarian carcinoma treatment ISO RGD:736161 D RGD:9068941 20200626 RGD PMID:16533786|REF_RGD_ID:2315652 8837581 Amh anti-Mullerian hormone gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8837581 Amh anti-Mullerian hormone gene DOID:630 genetic disease ISO RGD:736161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8837581 Amh anti-Mullerian hormone gene DOID:9002739 Female Urogenital Diseases ISO RGD:736161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8837581 Amh anti-Mullerian hormone gene DOID:9002762 Ovarian Neoplasms ISO RGD:736161 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:19424576|REF_RGD_ID:2315638 8837581 Amh anti-Mullerian hormone gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8837581 Amh anti-Mullerian hormone gene DOID:9970 obesity ISO RGD:736161 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17109858|REF_RGD_ID:1601182 8837597 Panx1 pannexin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:735204 D RGD:9068941 20200609 RGD PMID:31630543|REF_RGD_ID:14995937 8837597 Panx1 pannexin 1 gene DOID:1059 intellectual disability ISO RGD:1347653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8837597 Panx1 pannexin 1 gene DOID:1596 depressive disorder ISO RGD:1347653 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8837597 Panx1 pannexin 1 gene DOID:630 genetic disease ISO RGD:1347653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837597 Panx1 pannexin 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1347653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29246445 8837597 Panx1 pannexin 1 gene DOID:9004707 Massive Hepatic Necrosis ISO RGD:1347653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29246445 8837597 Panx1 pannexin 1 gene DOID:9005028 Oocyte/Zygote/Embryo Maturation Arrest 7 ISO RGD:1347653 D RGD:7240710 20190911 OMIM 8837597 Panx1 pannexin 1 gene DOID:9005028 Oocyte/Zygote/Embryo Maturation Arrest 7 ISO RGD:1347653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 7 PMID:25741868|PMID:30918116 8837597 Panx1 pannexin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29246445 8837606 Tnmd tenomodulin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8837606 Tnmd tenomodulin gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:731806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 8837606 Tnmd tenomodulin gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:731806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8837606 Tnmd tenomodulin gene DOID:12849 autistic disorder ISO RGD:731806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8837606 Tnmd tenomodulin gene DOID:630 genetic disease ISO RGD:731806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8837623 Atp7a ATPase copper transporting alpha gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:10216 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:20170900|PMID:25741868|PMID:28389643|PMID:32294113 8837623 Atp7a ATPase copper transporting alpha gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:10216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8837623 Atp7a ATPase copper transporting alpha gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:10216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:24550228|PMID:28492532 8837623 Atp7a ATPase copper transporting alpha gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:10216 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 8837623 Atp7a ATPase copper transporting alpha gene DOID:0111196 X-linked distal spinal muscular atrophy 3 ISO RGD:10216 D RGD:7240710 20180130 OMIM 8837623 Atp7a ATPase copper transporting alpha gene DOID:0111196 X-linked distal spinal muscular atrophy 3 ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE PMID:14985388|PMID:18414213|PMID:19153371|PMID:20170900|PMID:22210628|PMID:24033266|PMID:25428120|PMID:25741868|PMID:28119449|PMID:28492532 8837623 Atp7a ATPase copper transporting alpha gene DOID:0111272 occipital horn syndrome ISO RGD:10216 D RGD:7240710 20180130 OMIM 8837623 Atp7a ATPase copper transporting alpha gene DOID:0111272 occipital horn syndrome ISO RGD:10216 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome PMID:10319589|PMID:10739752|PMID:11241493|PMID:11350187|PMID:11431706|PMID:15596607|PMID:15981243|PMID:16199547|PMID:17108763|PMID:18414213|PMID:19153371|PMID:20170900|PMID:20652413|PMID:20799318|PMID:21208200|PMID:21494555|PMID:21716286|PMID:22210628|PMID:22552817|PMID:23281160|PMID:24033266|PMID:24919650|PMID:25741868|PMID:28119449|PMID:28492532|PMID:7842019|PMID:8149649|PMID:8981948|PMID:9246006 8837623 Atp7a ATPase copper transporting alpha gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:10216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992 8837623 Atp7a ATPase copper transporting alpha gene DOID:1059 intellectual disability ISO RGD:10216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8837623 Atp7a ATPase copper transporting alpha gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:10216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14985388|PMID:19153371|PMID:20170900|PMID:22210628|PMID:28119449|PMID:28492532 8837623 Atp7a ATPase copper transporting alpha gene DOID:10652 Alzheimer's disease ISO RGD:2179 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland, vascular plexus (rat) PMID:20027333|REF_RGD_ID:8657017 8837623 Atp7a ATPase copper transporting alpha gene DOID:11758 iron deficiency anemia ISO RGD:10215 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum (mouse) PMID:23776592|REF_RGD_ID:11252172 8837623 Atp7a ATPase copper transporting alpha gene DOID:11758 iron deficiency anemia ISO RGD:2179 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine mucosa (rat) PMID:15637178|REF_RGD_ID:2315589 8837623 Atp7a ATPase copper transporting alpha gene DOID:11758 iron deficiency anemia severity ISO RGD:10215 D RGD:9068941 20200609 RGD DNA:deletion:cds:p.A799_L800del (mouse) PMID:23776592|REF_RGD_ID:11252172 8837623 Atp7a ATPase copper transporting alpha gene DOID:12849 autistic disorder ISO RGD:10216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8837623 Atp7a ATPase copper transporting alpha gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:10216 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10570920|PMID:11241493|PMID:18414213|PMID:20045993|PMID:23281160|PMID:25741868|PMID:28492532 8837623 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:7240710 20180130 OMIM 8837623 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:10319589|PMID:10570920|PMID:10739752|PMID:11241493|PMID:11350187|PMID:12221109|PMID:12676902|PMID:14635105|PMID:14985388|PMID:15372525|PMID:16083905|PMID:16199547|PMID:16826513|PMID:17108763|PMID:17496194|PMID:17576681|PMID:18414213|PMID:18752978|PMID:19153371|PMID:19194885|PMID:20045993|PMID:20170900|PMID:20301586|PMID:20652413|PMID:21208200|PMID:21494555|PMID:21716286|PMID:22361452|PMID:23281160|PMID:24033266|PMID:25150085|PMID:25428120|PMID:25640679|PMID:25741868|PMID:26117549|PMID:27878136|PMID:28251916|PMID:28389643|PMID:28397151|PMID:28492532|PMID:29653220|PMID:30809870|PMID:31124329|PMID:31319225|PMID:32005694|PMID:32293788|PMID:33999244|PMID:34008892|PMID:7842019|PMID:7977350|PMID:8812725|PMID:8981948|PMID:9246006|PMID:9536098|PMID:9894833 8837623 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease ISO RGD:10216 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:10319589|PMID:10393914|PMID:10401004|PMID:10463276|PMID:10570920|PMID:10739752|PMID:11043517|PMID:11241493|PMID:11350187|PMID:11431706|PMID:11472597|PMID:11936860|PMID:12088078|PMID:12221109|PMID:12427520|PMID:12499504|PMID:12537648|PMID:12676902|PMID:12939451|PMID:14635105|PMID:14985388|PMID:15106121|PMID:15184642|PMID:15238919|PMID:15372525|PMID:15517445|PMID:15596607|PMID:15693857|PMID:15981243|PMID:16083905|PMID:16098018|PMID:16199547|PMID:16826513|PMID:17108763|PMID:17427918|PMID:17483305|PMID:17502470|PMID:17576681|PMID:18256395|PMID:18272047|PMID:18414213|PMID:18664244|PMID:18752978|PMID:19153371|PMID:19194885|PMID:19735987|PMID:19768483|PMID:20045102|PMID:20045993|PMID:20170900|PMID:20301586|PMID:20497190|PMID:20652413|PMID:20799318|PMID:20818383|PMID:20932283|PMID:21194679|PMID:21208200|PMID:21321493|PMID:21494555|PMID:21716286|PMID:21738351|PMID:22019070|PMID:22074552|PMID:22206013|PMID:22210628|PMID:22264391|PMID:22361452|PMID:22378671|PMID:22552817|PMID:22573628|PMID:23035047|PMID:23108492|PMID:23217327|PMID:23281160|PMID:24033266|PMID:24630286|PMID:24919650|PMID:25025039|PMID:25150085|PMID:25428120|PMID:25583628|PMID:25640679|PMID:25741868|PMID:25817015|PMID:26117549|PMID:26467025|PMID:27878136|PMID:28119449|PMID:28389643|PMID:28397151|PMID:28451781|PMID:28492532|PMID:29499166|PMID:29653220|PMID:30809870|PMID:31124329|PMID:31319225|PMID:32005694|PMID:32293788|PMID:33999244|PMID:34008892|PMID:34440436|PMID:7842019|PMID:7977350|PMID:8528242|PMID:8812725|PMID:8981948|PMID:9166584|PMID:9246006|PMID:9385451|PMID:9467005|PMID:9536098|PMID:9668166|PMID:9894833 8837623 Atp7a ATPase copper transporting alpha gene DOID:1838 Menkes disease severity ISO RGD:10216 D RGD:9068941 20200609 RGD DNA:duplication:exon: PMID:22074552|REF_RGD_ID:12879459 8837623 Atp7a ATPase copper transporting alpha gene DOID:2355 anemia ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23776592 8837623 Atp7a ATPase copper transporting alpha gene DOID:3144 cutis laxa susceptibility ISO RGD:10216 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:10739752|REF_RGD_ID:734621 8837623 Atp7a ATPase copper transporting alpha gene DOID:3627 aortic aneurysm ISO RGD:10215 D RGD:9068941 20220825 MouseDO 8837623 Atp7a ATPase copper transporting alpha gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2179 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:diaphragm (rat) PMID:25319798|REF_RGD_ID:11341670 8837623 Atp7a ATPase copper transporting alpha gene DOID:630 genetic disease ISO RGD:10216 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10570920|PMID:11241493|PMID:16083905|PMID:18414213|PMID:18752978|PMID:20045993|PMID:21716286|PMID:22264391|PMID:23281160|PMID:24033266|PMID:25741868|PMID:27878136|PMID:28389643|PMID:28397151|PMID:28492532|PMID:29653220|PMID:8981948 8837623 Atp7a ATPase copper transporting alpha gene DOID:6432 pulmonary hypertension ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614111 8837623 Atp7a ATPase copper transporting alpha gene DOID:8398 osteoarthritis ISO RGD:10215 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400 8837623 Atp7a ATPase copper transporting alpha gene DOID:893 Wilson disease ISO RGD:2179 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:27331785|REF_RGD_ID:11340212 8837623 Atp7a ATPase copper transporting alpha gene DOID:9000352 Vascular System Injuries ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20671235 8837623 Atp7a ATPase copper transporting alpha gene DOID:9000495 Tremor ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22815746 8837623 Atp7a ATPase copper transporting alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 8837623 Atp7a ATPase copper transporting alpha gene DOID:9002514 Neointima ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20671235 8837623 Atp7a ATPase copper transporting alpha gene DOID:9002801 Recurrence ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22304828 8837623 Atp7a ATPase copper transporting alpha gene DOID:9002928 Colonic Neoplasms ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17510416 8837623 Atp7a ATPase copper transporting alpha gene DOID:9003603 Hemolysis ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 8837623 Atp7a ATPase copper transporting alpha gene DOID:9003814 Neurologic Manifestations ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22815746|PMID:23064757 8837623 Atp7a ATPase copper transporting alpha gene DOID:9003837 Au-Kline Syndrome ISO RGD:10216 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Au-Kline syndrome PMID:25741868|PMID:28492532 8837623 Atp7a ATPase copper transporting alpha gene DOID:9004080 Aortic Rupture ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2346371|PMID:25449986 8837623 Atp7a ATPase copper transporting alpha gene DOID:9004866 Ataxia ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22815746 8837623 Atp7a ATPase copper transporting alpha gene DOID:9005246 Paralysis ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22815746 8837623 Atp7a ATPase copper transporting alpha gene DOID:9006205 Animal Disease Models ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17483305 8837623 Atp7a ATPase copper transporting alpha gene DOID:9006257 Growth Disorders ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23064757 8837623 Atp7a ATPase copper transporting alpha gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2179 D RGD:9068941 20200609 RGD PMID:24927960|REF_RGD_ID:11341676 8837623 Atp7a ATPase copper transporting alpha gene DOID:9007023 Prenatal Injuries ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25456742 8837623 Atp7a ATPase copper transporting alpha gene DOID:9008510 Chronic Hepatitis ISO RGD:10216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 8837653 Tbk1 TANK binding kinase 1 gene DOID:0081013 severe COVID-19 ISO RGD:1313752 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 8837653 Tbk1 TANK binding kinase 1 gene DOID:0081390 progressive non-fluent aphasia ISO RGD:1313752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary progressive non fluent aphasia 8837653 Tbk1 TANK binding kinase 1 gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ISO RGD:1313752 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:16199547|PMID:17576681|PMID:21447600|PMID:23453972|PMID:24033266|PMID:25700176|PMID:25741868|PMID:25803835|PMID:25943890|PMID:26476236|PMID:26581300|PMID:26804609|PMID:27156075|PMID:27892983|PMID:28008748|PMID:28089114|PMID:28365590|PMID:28492532|PMID:28822984|PMID:29146049|PMID:29398122|PMID:30033073|PMID:30739198|PMID:31000212|PMID:31244341|PMID:31475037|PMID:31498468|PMID:31748271|PMID:31914217|PMID:31996268|PMID:32317127|PMID:32409511|PMID:32447396|PMID:32579787|PMID:32638105|PMID:32772249|PMID:32980182|PMID:33208543|PMID:33245169|PMID:34363755|PMID:35260199|PMID:9536098 8837653 Tbk1 TANK binding kinase 1 gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 susceptibility ISO RGD:1313752 D RGD:7240710 20240320 OMIM 8837653 Tbk1 TANK binding kinase 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1313752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 8837653 Tbk1 TANK binding kinase 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532 8837653 Tbk1 TANK binding kinase 1 gene DOID:231 motor neuron disease ISO RGD:1313752 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:21447600|PMID:25700176|PMID:25803835|PMID:26476236|PMID:26581300|PMID:26804609|PMID:28089114|PMID:28492532|PMID:31748271|PMID:31996268|PMID:32317127 8837653 Tbk1 TANK binding kinase 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1313752 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 8837653 Tbk1 TANK binding kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1313752 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:16199547|PMID:25741868|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532|PMID:30033073|PMID:31244341|PMID:33245169 8837653 Tbk1 TANK binding kinase 1 gene DOID:630 genetic disease ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8837653 Tbk1 TANK binding kinase 1 gene DOID:9000417 Glaucoma 1, Open Angle, P ISO RGD:1313752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, P PMID:24033266|PMID:25741868|PMID:28492532 8837653 Tbk1 TANK binding kinase 1 gene DOID:9009143 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8 ISO RGD:1313752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 PMID:22851595|PMID:25741868|PMID:26513235|PMID:28492532|PMID:30033073|PMID:31244341 8837653 Tbk1 TANK binding kinase 1 gene DOID:9009143 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8 susceptibility ISO RGD:1313752 D RGD:7240710 20240320 OMIM 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1318735 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10447254|PMID:10862089|PMID:12509227|PMID:1352672|PMID:1372102|PMID:1372103|PMID:15214909|PMID:15661657|PMID:1601884|PMID:16491090|PMID:16792756|PMID:16905156|PMID:1702221|PMID:17576681|PMID:20054342|PMID:20199544|PMID:20534089|PMID:20574439|PMID:21148310|PMID:22081045|PMID:2234061|PMID:23194742|PMID:24135642|PMID:24728327|PMID:24757057|PMID:25256075|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26659639|PMID:26743599|PMID:26884178|PMID:27413738|PMID:27607234|PMID:27982466|PMID:28492532|PMID:29208038|PMID:30077970|PMID:31478152|PMID:35687855|PMID:7577588|PMID:7876263|PMID:8105686|PMID:8541864|PMID:8765158|PMID:8825598|PMID:9536098|PMID:9671271 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:0110843 xeroderma pigmentosum group A ISO RGD:1318735 D RGD:7240710 20180418 OMIM 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:0110843 xeroderma pigmentosum group A ISO RGD:1318735 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group A PMID:10447254|PMID:10862089|PMID:12509227|PMID:1339397|PMID:1352672|PMID:1372102|PMID:1372103|PMID:15214909|PMID:15661657|PMID:1601884|PMID:16098033|PMID:16199547|PMID:16491090|PMID:16792756|PMID:16905156|PMID:1702221|PMID:17576681|PMID:18414213|PMID:20054342|PMID:20199544|PMID:20534089|PMID:20574439|PMID:22081045|PMID:22190868|PMID:2234061|PMID:23194742|PMID:24063568|PMID:24135642|PMID:24704021|PMID:24728327|PMID:24757057|PMID:25256075|PMID:25326635|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26659639|PMID:26743599|PMID:26884178|PMID:27413738|PMID:27607234|PMID:27982466|PMID:28492532|PMID:29208038|PMID:30077970|PMID:31478152|PMID:34234304|PMID:35178751|PMID:35197637|PMID:35687855|PMID:7577588|PMID:7876263|PMID:8105686|PMID:8541864|PMID:8765158|PMID:8825598|PMID:9536098|PMID:9671271|PMID:9753735 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:1059 intellectual disability ISO RGD:1318735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:12712 nephronophthisis ISO RGD:1318735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:14004 thoracic aortic aneurysm ISO RGD:1318735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:2394 ovarian cancer ISO RGD:1318735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:2513 basal cell carcinoma ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17687452 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:2962 Cockayne syndrome ISO RGD:1316157 D RGD:9068941 20200609 RGD PMID:19114557|REF_RGD_ID:10401087 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:630 genetic disease ISO RGD:1318735 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16792756|PMID:25741868|PMID:26659639|PMID:26743599|PMID:26884178|PMID:28492532 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:9001793 Generalized Epilepsy ISO RGD:1318735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:9002245 Intestinal Neoplasms ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16962818 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:9004464 Skin Neoplasms ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10755388|PMID:16962818 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216194|PMID:9885240 8837689 Xpa XPA, DNA damage recognition and repair factor gene DOID:9007188 Liver Neoplasms ISO RGD:1318735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24084170 8837703 Saraf store-operated calcium entry associated regulatory factor gene DOID:630 genetic disease ISO RGD:1604621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837713 Usp26 ubiquitin specific peptidase 26 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8837713 Usp26 ubiquitin specific peptidase 26 gene DOID:12849 autistic disorder ISO RGD:1354275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8837713 Usp26 ubiquitin specific peptidase 26 gene DOID:630 genetic disease ISO RGD:1354275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837713 Usp26 ubiquitin specific peptidase 26 gene DOID:9005967 X-Linked Spermatogenic Failure 6 ISO RGD:1354275 D RGD:7240710 20230505 OMIM 8837713 Usp26 ubiquitin specific peptidase 26 gene DOID:9005967 X-Linked Spermatogenic Failure 6 ISO RGD:1354275 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 6 PMID:34202084 8837733 Col9a2 collagen type IX alpha 2 chain gene DOID:0070298 multiple epiphyseal dysplasia 2 ISO RGD:1315981 D RGD:7240710 20180130 OMIM 8837733 Col9a2 collagen type IX alpha 2 chain gene DOID:0070298 multiple epiphyseal dysplasia 2 ISO RGD:1315981 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2 PMID:10364514|PMID:11565064|PMID:12244547|PMID:15633184|PMID:17576681|PMID:20358595|PMID:21671392|PMID:21922596|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29026132|PMID:30311386|PMID:3238439|PMID:33356723|PMID:35250876|PMID:8528240|PMID:9536098 8837733 Col9a2 collagen type IX alpha 2 chain gene DOID:0080046 Stickler syndrome ISO RGD:1315981 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:21671392|PMID:28492532|PMID:30311386|PMID:31896775|PMID:33356723 8837733 Col9a2 collagen type IX alpha 2 chain gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8837733 Col9a2 collagen type IX alpha 2 chain gene DOID:1059 intellectual disability ISO RGD:1315981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8837733 Col9a2 collagen type IX alpha 2 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1315981 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:8528240|REF_RGD_ID:1600952 8837733 Col9a2 collagen type IX alpha 2 chain gene DOID:630 genetic disease ISO RGD:1315981 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8837733 Col9a2 collagen type IX alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:1315981 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11565064|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29026132 8837733 Col9a2 collagen type IX alpha 2 chain gene DOID:9002691 Stickler Syndrome, Type V ISO RGD:1315981 D RGD:7240710 20180130 OMIM 8837733 Col9a2 collagen type IX alpha 2 chain gene DOID:9002691 Stickler Syndrome, Type V ISO RGD:1315981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COL9A2-related condition | ClinVar Annotator: match by term: Stickler syndrome, type 5 PMID:20301479|PMID:21671392|PMID:25741868|PMID:28492532|PMID:30311386|PMID:33356723 8837733 Col9a2 collagen type IX alpha 2 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1315981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8837782 Pla2g12b phospholipase A2 group XIIB gene DOID:630 genetic disease ISO RGD:1351879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837795 Tlcd3b TLC domain containing 3B gene DOID:0050572 cone-rod dystrophy ISO RGD:1332551 D RGD:9068941 20220825 MouseDO 8837795 Tlcd3b TLC domain containing 3B gene DOID:0060019 coronin-1A deficiency ISO RGD:1605610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8837795 Tlcd3b TLC domain containing 3B gene DOID:0060041 autism spectrum disorder ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8837795 Tlcd3b TLC domain containing 3B gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605610 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8837795 Tlcd3b TLC domain containing 3B gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1605610 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8837795 Tlcd3b TLC domain containing 3B gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1605610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8837795 Tlcd3b TLC domain containing 3B gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605610 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8837795 Tlcd3b TLC domain containing 3B gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605610 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8837795 Tlcd3b TLC domain containing 3B gene DOID:12849 autistic disorder ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8837795 Tlcd3b TLC domain containing 3B gene DOID:5419 schizophrenia ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8837795 Tlcd3b TLC domain containing 3B gene DOID:630 genetic disease ISO RGD:1605610 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837795 Tlcd3b TLC domain containing 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8837795 Tlcd3b TLC domain containing 3B gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1605610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8837795 Tlcd3b TLC domain containing 3B gene DOID:9007876 Cone-Rod Dystrophy 22 ISO RGD:1605610 D RGD:7240710 20210929 OMIM 8837795 Tlcd3b TLC domain containing 3B gene DOID:9007876 Cone-Rod Dystrophy 22 ISO RGD:1605610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 22 PMID:33077892 8837814 Aknad1 AKNA domain containing 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604964 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8837814 Aknad1 AKNA domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1604964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8837814 Aknad1 AKNA domain containing 1 gene DOID:630 genetic disease ISO RGD:1604964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837841 Gin1 gypsy retrotransposon integrase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8837841 Gin1 gypsy retrotransposon integrase 1 gene DOID:630 genetic disease ISO RGD:1603218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837841 Gin1 gypsy retrotransposon integrase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1603218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8837841 Gin1 gypsy retrotransposon integrase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8837841 Gin1 gypsy retrotransposon integrase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8837863 Neurl1b neuralized E3 ubiquitin protein ligase 1B gene DOID:0110112 atrial heart septal defect 7 ISO RGD:2303667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8837863 Neurl1b neuralized E3 ubiquitin protein ligase 1B gene DOID:10908 hydrocephalus ISO RGD:2303667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 8837863 Neurl1b neuralized E3 ubiquitin protein ligase 1B gene DOID:630 genetic disease ISO RGD:2303667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837863 Neurl1b neuralized E3 ubiquitin protein ligase 1B gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:2303667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8837874 Kcnmb4 potassium calcium-activated channel subfamily M regulatory beta subunit 4 gene DOID:630 genetic disease ISO RGD:1343155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837881 Muc19 mucin 19, oligomeric gene DOID:0050589 inflammatory bowel disease ISO RGD:1343631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 8837881 Muc19 mucin 19, oligomeric gene DOID:12894 Sjogren's syndrome ISO RGD:1320940 D RGD:9068941 20220825 MouseDO OMIM:270150 8837881 Muc19 mucin 19, oligomeric gene DOID:12894 Sjogren's syndrome ISO RGD:1343631 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctival epithelial cell PMID:18184611|REF_RGD_ID:7364736 8837887 Rhov ras homolog family member V gene DOID:2717 Bloom syndrome ISO RGD:1604729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8837887 Rhov ras homolog family member V gene DOID:630 genetic disease ISO RGD:1604729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837887 Rhov ras homolog family member V gene DOID:9256 colorectal cancer ISO RGD:1604729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8837894 Trim40 tripartite motif containing 40 gene DOID:11372 megacolon ISO RGD:1346356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8837894 Trim40 tripartite motif containing 40 gene DOID:2772 irritant dermatitis ISO RGD:1346356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 8837894 Trim40 tripartite motif containing 40 gene DOID:630 genetic disease ISO RGD:1346356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837903 P2ry14 purinergic receptor P2Y14 gene DOID:0050579 glycogen storage disease XV ISO RGD:1347256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8837903 P2ry14 purinergic receptor P2Y14 gene DOID:0080600 COVID-19 ISO RGD:1347256 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8837903 P2ry14 purinergic receptor P2Y14 gene DOID:630 genetic disease ISO RGD:1347256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837929 Ramac RNA guanine-7 methyltransferase activating subunit gene DOID:13938 amenorrhea ISO RGD:1320685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8837929 Ramac RNA guanine-7 methyltransferase activating subunit gene DOID:2717 Bloom syndrome ISO RGD:1320685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8837929 Ramac RNA guanine-7 methyltransferase activating subunit gene DOID:630 genetic disease ISO RGD:1320685 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837929 Ramac RNA guanine-7 methyltransferase activating subunit gene DOID:9256 colorectal cancer ISO RGD:1320685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8837936 Sgms2 sphingomyelin synthase 2 gene DOID:0080721 calvarial doughnut lesions with bone fragility ISO RGD:1605563 D RGD:7240710 20190731 OMIM 8837936 Sgms2 sphingomyelin synthase 2 gene DOID:0080721 calvarial doughnut lesions with bone fragility ISO RGD:1605563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | ClinVar Annotator: match by term: Doughnut lesions of skull, familial PMID:19839042|PMID:25741868|PMID:28492532|PMID:30779713|PMID:32028018 8837936 Sgms2 sphingomyelin synthase 2 gene DOID:630 genetic disease ISO RGD:1605563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19839042|PMID:25741868|PMID:28492532|PMID:30779713|PMID:32028018 8837936 Sgms2 sphingomyelin synthase 2 gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1605563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:28492532 8837964 Cstf2t cleavage stimulation factor subunit 2 tau variant gene DOID:630 genetic disease ISO RGD:1320690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8837964 Cstf2t cleavage stimulation factor subunit 2 tau variant gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1320690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:25640679|PMID:28492532 8837974 Gusb glucuronidase beta gene DOID:0060041 autism spectrum disorder ISO RGD:737258 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8837974 Gusb glucuronidase beta gene DOID:10283 prostate cancer ISO RGD:737258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8837974 Gusb glucuronidase beta gene DOID:1059 intellectual disability ISO RGD:737258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:19224584|PMID:21504867|PMID:23777470|PMID:25741868|PMID:28492532|PMID:7573038|PMID:9490302 8837974 Gusb glucuronidase beta gene DOID:12798 mucopolysaccharidosis disease_progression ISO RGD:2772 D RGD:9068941 20210312 RGD protein:decreases activity:spleen, kidney, lung (rat) PMID:2879381|REF_RGD_ID:42724461 8837974 Gusb glucuronidase beta gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maroteaux Lamy syndrome PMID:12403825|PMID:12859417|PMID:19224584|PMID:25741868|PMID:26908836|PMID:28124119|PMID:28492532|PMID:28884947|PMID:29698805|PMID:30413728|PMID:30838730|PMID:7573038|PMID:8089138|PMID:8644704|PMID:9490302|PMID:9921904 8837974 Gusb glucuronidase beta gene DOID:12803 Sly syndrome ISO RGD:737258 D RGD:7240710 20180130 OMIM 8837974 Gusb glucuronidase beta gene DOID:12803 Sly syndrome ISO RGD:737258 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MPS VII | ClinVar Annotator: match by term: Mucopolysaccharidosis type VII | ClinVar Annotator: match by term: Sly syndrome PMID:11226217|PMID:12403825|PMID:12522561|PMID:12859417|PMID:144057|PMID:14711113|PMID:16199547|PMID:16546179|PMID:1702266|PMID:17576681|PMID:1779626|PMID:1833732|PMID:19224584|PMID:1992472|PMID:2115490|PMID:21504867|PMID:23777470|PMID:24033266|PMID:24260279|PMID:25741868|PMID:26036949|PMID:26415878|PMID:26908836|PMID:28124119|PMID:28492532|PMID:28595941|PMID:28884947|PMID:29620724|PMID:29698805|PMID:30076350|PMID:30410095|PMID:30413728|PMID:30442200|PMID:30653816|PMID:30838730|PMID:31130284|PMID:31497474|PMID:33686258|PMID:33897756|PMID:34302381|PMID:6811712|PMID:7573038|PMID:7633414|PMID:7633417|PMID:7680524|PMID:8089138|PMID:8111412|PMID:8111413|PMID:8644704|PMID:8707294|PMID:9099834|PMID:9224584|PMID:9490302|PMID:9536098|PMID:9742570|PMID:9921904 8837974 Gusb glucuronidase beta gene DOID:14755 argininosuccinic aciduria ISO RGD:737258 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:19224584|PMID:28492532 8837974 Gusb glucuronidase beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8837974 Gusb glucuronidase beta gene DOID:576 proteinuria ISO RGD:737258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2880436 8837974 Gusb glucuronidase beta gene DOID:630 genetic disease ISO RGD:737258 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8837974 Gusb glucuronidase beta gene DOID:8283 peritonitis ISO RGD:2772 D RGD:9068941 20210305 RGD protein:altered expression:peritoneal cells (rat) PMID:185091|REF_RGD_ID:42722008 8837974 Gusb glucuronidase beta gene DOID:863 nervous system disease ISO RGD:737258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7073948|PMID:7107415 8837974 Gusb glucuronidase beta gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2772 D RGD:9068941 20210312 RGD PMID:827200|REF_RGD_ID:42724460 8837974 Gusb glucuronidase beta gene DOID:9008386 Hydrops Fetalis ISO RGD:737258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:1702266|PMID:1779626|PMID:19224584|PMID:25741868|PMID:26036949|PMID:28492532|PMID:29620724|PMID:31130284|PMID:31497474|PMID:7573038|PMID:7680524|PMID:8644704|PMID:9099834 8837974 Gusb glucuronidase beta gene DOID:9008821 Otitis Media with Effusion IEP D RGD:11557999|PMID:2837976 20161104 RGD 8837995 Gpr84 G protein-coupled receptor 84 gene DOID:630 genetic disease ISO RGD:1323208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838001 Homer2 homer scaffold protein 2 gene DOID:0110589 autosomal dominant nonsyndromic deafness 68 ISO RGD:1354175 D RGD:7240710 20180130 OMIM 8838001 Homer2 homer scaffold protein 2 gene DOID:0110589 autosomal dominant nonsyndromic deafness 68 ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 68 PMID:25741868|PMID:25816005|PMID:30047143 8838001 Homer2 homer scaffold protein 2 gene DOID:13938 amenorrhea ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8838001 Homer2 homer scaffold protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8838001 Homer2 homer scaffold protein 2 gene DOID:630 genetic disease ISO RGD:1354175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8838001 Homer2 homer scaffold protein 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1354175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545022 8838001 Homer2 homer scaffold protein 2 gene DOID:9256 colorectal cancer ISO RGD:1354175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8838023 Sema6b semaphorin 6B gene DOID:0070338 cerebellar hypoplasia ISO RGD:731900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 8838023 Sema6b semaphorin 6B gene DOID:0080600 COVID-19 ISO RGD:731900 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8838023 Sema6b semaphorin 6B gene DOID:1059 intellectual disability ISO RGD:731900 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8838023 Sema6b semaphorin 6B gene DOID:12849 autistic disorder ISO RGD:731900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8838023 Sema6b semaphorin 6B gene DOID:13938 amenorrhea ISO RGD:731900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8838023 Sema6b semaphorin 6B gene DOID:630 genetic disease ISO RGD:731900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8838023 Sema6b semaphorin 6B gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:731900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Grade I preterm intraventricular hemorrhage PMID:31474318 8838023 Sema6b semaphorin 6B gene DOID:9003902 Progressive Myoclonus Epilepsy 11 ISO RGD:731900 D RGD:7240710 20200520 OMIM 8838023 Sema6b semaphorin 6B gene DOID:9003902 Progressive Myoclonus Epilepsy 11 ISO RGD:731900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 11 PMID:25741868|PMID:28492532|PMID:32169168|PMID:35604360 8838023 Sema6b semaphorin 6B gene DOID:9005154 Myoclonic Epilepsies ISO RGD:731900 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25741868 8838056 Slc25a34 solute carrier family 25 member 34 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606920 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8838056 Slc25a34 solute carrier family 25 member 34 gene DOID:630 genetic disease ISO RGD:1606920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838056 Slc25a34 solute carrier family 25 member 34 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1606920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 8838068 LOC102010018 chromosome unknown open reading frame, human C12orf50 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605567 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 8838068 LOC102010018 chromosome unknown open reading frame, human C12orf50 gene DOID:630 genetic disease ISO RGD:1605567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838103 Wwc1 WW and C2 domain containing 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1601880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 8838103 Wwc1 WW and C2 domain containing 1 gene DOID:1790 malignant mesothelioma ISO RGD:1601880 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8838103 Wwc1 WW and C2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1601880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838142 Cd9 CD9 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:732702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8838142 Cd9 CD9 molecule gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD PMID:14534881|REF_RGD_ID:2326207 8838142 Cd9 CD9 molecule gene DOID:1380 endometrial cancer ISO RGD:732702 D RGD:9068941 20200609 RGD PMID:11505398|REF_RGD_ID:2326208 8838142 Cd9 CD9 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:ovary PMID:12079303|REF_RGD_ID:2289405 8838142 Cd9 CD9 molecule gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD DNA, mRNA:deletion, point mutation, decreased expression:prostate gland PMID:17406028|REF_RGD_ID:2326197 8838142 Cd9 CD9 molecule gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:17393117|REF_RGD_ID:2289390 8838142 Cd9 CD9 molecule gene DOID:2893 cervix carcinoma disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD PMID:14695144|REF_RGD_ID:2326206 8838142 Cd9 CD9 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8838142 Cd9 CD9 molecule gene DOID:3068 glioblastoma ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26573230 8838142 Cd9 CD9 molecule gene DOID:3459 breast carcinoma disease_progression ISO RGD:732702 D RGD:9068941 20200609 RGD PMID:16132579|REF_RGD_ID:2326200 8838142 Cd9 CD9 molecule gene DOID:3908 lung non-small cell carcinoma ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 8838142 Cd9 CD9 molecule gene DOID:5082 liver cirrhosis ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8838142 Cd9 CD9 molecule gene DOID:630 genetic disease ISO RGD:732702 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838142 Cd9 CD9 molecule gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 8838142 Cd9 CD9 molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8838142 Cd9 CD9 molecule gene DOID:9002955 Nerve Degeneration ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 8838142 Cd9 CD9 molecule gene DOID:9007456 Female Infertility ISO RGD:732703 D RGD:9068941 20200609 RGD PMID:10634790|REF_RGD_ID:734730 8838142 Cd9 CD9 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8838142 Cd9 CD9 molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 8838142 Cd9 CD9 molecule gene DOID:9119 acute myeloid leukemia ISO RGD:732702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8838154 Dzip1l DAZ interacting zinc finger protein 1 like gene DOID:0080273 polycystic kidney disease 5 ISO RGD:1344571 D RGD:7240710 20190315 OMIM 8838154 Dzip1l DAZ interacting zinc finger protein 1 like gene DOID:0080273 polycystic kidney disease 5 ISO RGD:1344571 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 5 PMID:25741868|PMID:28492532|PMID:28530676 8838154 Dzip1l DAZ interacting zinc finger protein 1 like gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1344571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530676 8838154 Dzip1l DAZ interacting zinc finger protein 1 like gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1549981 D RGD:9068941 20220825 MouseDO OMIM:263200 8838154 Dzip1l DAZ interacting zinc finger protein 1 like gene DOID:630 genetic disease ISO RGD:1344571 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8838227 Slc10a4 solute carrier family 10 member 4 gene DOID:630 genetic disease ISO RGD:1319926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:0050860 colorectal adenoma ameliorates ISO RGD:1312524 D RGD:9068941 20220204 RGD protein:increased expression:colorectal mucosa (human) PMID:19156145|REF_RGD_ID:151347861 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1312524 D RGD:9068941 20220204 RGD protein:increased expression:colorectum (human) PMID:30144500|REF_RGD_ID:151347859 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:10908 hydrocephalus ISO RGD:1312524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:299 adenocarcinoma ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1312524 D RGD:9068941 20210625 RGD PMID:33532313|REF_RGD_ID:127285652 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:630 genetic disease ISO RGD:1312524 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1312524 D RGD:9068941 20220204 RGD mRNA, protein:increased expression:liver (human) PMID:32514535|REF_RGD_ID:151347860 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9002758 Congenital Hydrocephalus 5 ISO RGD:1312524 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Hydrocephalus, congenital, 5, susceptibility to | ClinVar Annotator: match by term: SMARCC1-associated developmental dysgenesis syndrome PMID:25741868|PMID:29983323|PMID:33077954 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9002758 Congenital Hydrocephalus 5 susceptibility ISO RGD:1312524 D RGD:7240710 20230505 OMIM 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1312524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9006205 Animal Disease Models ISO RGD:1312524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1312524 D RGD:9068941 20220204 RGD associated with gastric carcinoma;protein:decreased expression:stomach (human) PMID:31922331|REF_RGD_ID:126848759 8838233 Smarcc1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 gene DOID:9256 colorectal cancer ISO RGD:1312524 D RGD:9068941 20220204 RGD RNA:increased expression:colorectum (human) PMID:32606978|REF_RGD_ID:151347862 8838271 Nudt15 nudix hydrolase 15 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1317982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8838271 Nudt15 nudix hydrolase 15 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1317982 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 8838271 Nudt15 nudix hydrolase 15 gene DOID:1059 intellectual disability ISO RGD:1317982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8838271 Nudt15 nudix hydrolase 15 gene DOID:1227 neutropenia ISO RGD:1317983 D RGD:9068941 20240307 MouseDO 8838271 Nudt15 nudix hydrolase 15 gene DOID:12450 pancytopenia ISO RGD:1317983 D RGD:9068941 20240307 MouseDO 8838271 Nudt15 nudix hydrolase 15 gene DOID:615 leukopenia ISO RGD:1317983 D RGD:9068941 20240307 MouseDO 8838271 Nudt15 nudix hydrolase 15 gene DOID:630 genetic disease ISO RGD:1317982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838271 Nudt15 nudix hydrolase 15 gene DOID:768 retinoblastoma ISO RGD:1317982 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 8838271 Nudt15 nudix hydrolase 15 gene DOID:9002041 Poor Metabolism of Thiopurines, 2 ISO RGD:1317982 D RGD:7240710 20190315 OMIM 8838271 Nudt15 nudix hydrolase 15 gene DOID:9002041 Poor Metabolism of Thiopurines, 2 ISO RGD:1317982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thiopurines, poor metabolism of, 2 PMID:22992668|PMID:25108385|PMID:25624441|PMID:26033531|PMID:26076924|PMID:26405151|PMID:26503813|PMID:26590936|PMID:26735160|PMID:26878724|PMID:27095468|PMID:27193222|PMID:27416873|PMID:27558924|PMID:27577869|PMID:27604507|PMID:28088792|PMID:28146264|PMID:28418010|PMID:28445187|PMID:28659275|PMID:29702976|PMID:29704867|PMID:29720126|PMID:29867468|PMID:29923122|PMID:29967377|PMID:30035323|PMID:30048756|PMID:30101994|PMID:30728528|PMID:31024313 8838317 P3h1 prolyl 3-hydroxylase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8838317 P3h1 prolyl 3-hydroxylase 1 gene DOID:0110336 osteogenesis imperfecta type 8 ISO RGD:1602868 D RGD:7240710 20180130 OMIM 8838317 P3h1 prolyl 3-hydroxylase 1 gene DOID:0110336 osteogenesis imperfecta type 8 ISO RGD:1602868 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: OI type VIII | ClinVar Annotator: match by term: Osteogenesis imperfecta type 8 PMID:16199547|PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:21667357|PMID:22281939|PMID:22344438|PMID:22615817|PMID:23613367|PMID:24498616|PMID:25741868|PMID:26634552|PMID:27383115|PMID:27509835|PMID:27545679|PMID:27864101|PMID:28492532|PMID:29150909|PMID:29329516|PMID:29499418|PMID:29595812|PMID:29620724|PMID:32123938|PMID:32770541|PMID:33093841|PMID:35052464|PMID:35327962|PMID:3545499|PMID:36963805|PMID:9536098 8838317 P3h1 prolyl 3-hydroxylase 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1602868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:22615817|PMID:25741868|PMID:27864101|PMID:28492532|PMID:32770541 8838317 P3h1 prolyl 3-hydroxylase 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1602868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:22281939|PMID:24498616|PMID:25741868|PMID:26634552|PMID:28492532|PMID:31319225|PMID:9536098 8838317 P3h1 prolyl 3-hydroxylase 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1602868 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16199547|PMID:17277775|PMID:17576681|PMID:18566967|PMID:19088120|PMID:22281939|PMID:24498616|PMID:25741868|PMID:26634552|PMID:27509835|PMID:28492532|PMID:29150909|PMID:29595812|PMID:31319225|PMID:3545499|PMID:9536098 8838317 P3h1 prolyl 3-hydroxylase 1 gene DOID:630 genetic disease ISO RGD:1602868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8838344 Ncstn nicastrin gene DOID:0060178 familial hemiplegic migraine ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 8838344 Ncstn nicastrin gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 8838344 Ncstn nicastrin gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8838344 Ncstn nicastrin gene DOID:0081292 traumatic brain injury ISO RGD:1551174 D RGD:9068941 20200609 RGD PMID:18240300|REF_RGD_ID:13801189 8838344 Ncstn nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 8838344 Ncstn nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 RGD PMID:23595812|REF_RGD_ID:13801187 8838344 Ncstn nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-922G>T (rs10752637) (human) PMID:19840113|REF_RGD_ID:13801048 8838344 Ncstn nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-796T>G, -1216C>A (human) PMID:19394408|REF_RGD_ID:13801050 8838344 Ncstn nicastrin gene DOID:10652 Alzheimer's disease ISO RGD:1351739 D RGD:9068941 20200609 RGD protein:increased modification:brain PMID:22404891|REF_RGD_ID:13801051 8838344 Ncstn nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-436C>T (human) PMID:19394408|REF_RGD_ID:13801050 8838344 Ncstn nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-796T>G, -1216C>A (human) PMID:15157994|REF_RGD_ID:13801049 8838344 Ncstn nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:missense mutation, SNPs:exon, intron, 3' utr:multiple PMID:14642438|REF_RGD_ID:13801188 8838344 Ncstn nicastrin gene DOID:10652 Alzheimer's disease no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:missense mutation: :417N>Y (human) PMID:11992262|REF_RGD_ID:13801052 8838344 Ncstn nicastrin gene DOID:10652 Alzheimer's disease onset ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:introns:multiple PMID:11992262|REF_RGD_ID:13801052 8838344 Ncstn nicastrin gene DOID:11054 urinary bladder cancer ISO RGD:1551174 D RGD:9068941 20220825 MouseDO OMIM:109800 8838344 Ncstn nicastrin gene DOID:1540 parathyroid carcinoma ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8838344 Ncstn nicastrin gene DOID:5419 schizophrenia ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:rs1802778 (human) PMID:27008863|REF_RGD_ID:11536124 8838344 Ncstn nicastrin gene DOID:5419 schizophrenia ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:missense mutation: :417N>Y (human) PMID:21364883|REF_RGD_ID:13801053 8838344 Ncstn nicastrin gene DOID:5419 schizophrenia ISO RGD:1551174 D RGD:9068941 20200609 RGD PMID:27008863|REF_RGD_ID:11536124 8838344 Ncstn nicastrin gene DOID:5419 schizophrenia ISO RGD:1551174 D RGD:9068941 20220825 MouseDO OMIM:181500 8838344 Ncstn nicastrin gene DOID:5419 schizophrenia no_association ISO RGD:1351739 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:21364883|PMID:27008863|REF_RGD_ID:11536124|REF_RGD_ID:13801053 8838344 Ncstn nicastrin gene DOID:630 genetic disease ISO RGD:1351739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8838344 Ncstn nicastrin gene DOID:8552 chronic myeloid leukemia ISO RGD:1551174 D RGD:9068941 20220825 MouseDO OMIM:608232 8838344 Ncstn nicastrin gene DOID:9003136 Familial Acne Inversa 1 ISO RGD:1351739 D RGD:7240710 20210721 OMIM 8838344 Ncstn nicastrin gene DOID:9003136 Familial Acne Inversa 1 ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition PMID:20929727|PMID:21412258|PMID:22358060|PMID:25693063|PMID:25741868|PMID:28492532|PMID:32926179 8838344 Ncstn nicastrin gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:1351739 D RGD:9068941 20210723 CTD CTD Direct Evidence: marker/mechanism PMID:20929727 8838344 Ncstn nicastrin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050741 alcohol dependence ISO RGD:619864 D RGD:9068941 20231228 RGD mRNA:decreased expression:hippocampus (rat) PMID:22253714|REF_RGD_ID:401900163 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050742 nicotine dependence ISO RGD:731754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tobacco addiction, susceptibility to PMID:25741868|PMID:28492532 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:731754 D RGD:7240710 20240320 OMIM 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0080291 developmental and epileptic encephalopathy 59 ISO RGD:731754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 59 PMID:25262651|PMID:25741868|PMID:28492532|PMID:28856709|PMID:29100083|PMID:29369404|PMID:32860008|PMID:34008892 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0080291 developmental and epileptic encephalopathy 59 susceptibility ISO RGD:731754 D RGD:7240710 20240320 OMIM 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1059 intellectual disability ISO RGD:731754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1206 Rett syndrome ISO RGD:731754 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28590052|PMID:28856709|PMID:29100083 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:12712 nephronophthisis ISO RGD:731754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:12849 autistic disorder ISO RGD:731754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19002745 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:731754 D RGD:9068941 20231228 RGD DNA:SNP:intron: (rs2900512) (human) PMID:28118741|REF_RGD_ID:401940105 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:1826 epilepsy ISO RGD:731754 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:630 genetic disease ISO RGD:731754 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28590052|PMID:28856709|PMID:29100083 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:731754 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28590052|PMID:28856709|PMID:29100083|PMID:34055682|PMID:9536098 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:9009154 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills ISO RGD:731754 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills PMID:25262651|PMID:25741868|PMID:26740508|PMID:27541642|PMID:28492532|PMID:28590052|PMID:28856709|PMID:29100083|PMID:29369404|PMID:34008892|PMID:35414446 8838365 Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 gene DOID:9009154 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills susceptibility ISO RGD:731754 D RGD:7240710 20240320 OMIM 8838389 Nhlrc3 NHL repeat containing 3 gene DOID:630 genetic disease ISO RGD:1605503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838413 Cdx1 caudal type homeobox 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321203 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8838413 Cdx1 caudal type homeobox 1 gene DOID:630 genetic disease ISO RGD:1321203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838413 Cdx1 caudal type homeobox 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321203 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8838420 Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1343133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8838420 Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:0080233 autosomal dominant intellectual developmental disorder 50 ISO RGD:1343133 D RGD:7240710 20190315 OMIM 8838420 Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:0080233 autosomal dominant intellectual developmental disorder 50 ISO RGD:1343133 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 | ClinVar Annotator: match by term: NAA15-related syndrome PMID:23665959|PMID:25363760|PMID:25741868|PMID:26785492|PMID:27824329|PMID:28191889|PMID:28303347|PMID:28492532|PMID:28714951|PMID:28990276|PMID:29656860|PMID:29758562|PMID:30792901|PMID:31127942|PMID:35982160|PMID:37130971 8838420 Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:1059 intellectual disability ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 8838420 Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:12849 autistic disorder ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder 8838420 Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:2234 focal epilepsy ISO RGD:1343133 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure 8838420 Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:630 genetic disease ISO RGD:1343133 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191889|PMID:28303347|PMID:28492532|PMID:29656860|PMID:30564305|PMID:30792901|PMID:37130971 8838420 Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8838420 Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1343133 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28191889|PMID:28303347|PMID:29656860 8838420 Naa15 N-alpha-acetyltransferase 15, NatA auxiliary subunit gene DOID:9008582 Developmental Disease ISO RGD:1343133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8838452 Ipmk inositol polyphosphate multikinase gene DOID:630 genetic disease ISO RGD:737355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838468 RICTOR RPTOR independent companion of MTOR complex 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1604194 D RGD:9068941 20220623 RGD associated with lymphatic metastasis; protein:increased expression:breast tumor, lymph node (human) PMID:20978191|REF_RGD_ID:152995469 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1604194 D RGD:9068941 20220630 RGD protein:increased expression:colon (human) PMID:27729429|REF_RGD_ID:152995521 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:10534 stomach cancer severity ISO RGD:1604194 D RGD:9068941 20220623 RGD associated with Lymphatic Metastasis;protein:increased expression:gastric tumor, lymph node (human) PMID:32588907|REF_RGD_ID:152995444 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:10534 stomach cancer severity ISO RGD:1604194 D RGD:9068941 20220623 RGD protein:increased expression:gastric tumor (human) PMID:26159923|REF_RGD_ID:152995448 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:1324 lung cancer ISO RGD:1604194 D RGD:9068941 20220630 RGD DNA:amplification: :lung (human) PMID:26370156|REF_RGD_ID:11535413 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:219 colon cancer ISO RGD:1604194 D RGD:9068941 20220623 RGD protein:increased expression:colon (human) PMID:24244675|REF_RGD_ID:152995458 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:219 colon cancer ISO RGD:1604194 D RGD:9068941 20220630 RGD human cells in mouse model PMID:20226010|REF_RGD_ID:152995494 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:219 colon cancer severity ISO RGD:1604194 D RGD:9068941 20220623 RGD mRNA:increased expression:colon (human) PMID:31932471|REF_RGD_ID:152995462 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:3121 gallbladder cancer ISO RGD:1604194 D RGD:9068941 20220630 RGD DNA:CNV, amplification:exon (human) PMID:24508317|REF_RGD_ID:152995522 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1604194 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1604194 D RGD:9068941 20220623 RGD human cells in mouse model PMID:30119206|REF_RGD_ID:152995460 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1604194 D RGD:9068941 20220630 RGD protein:increased expression:esophagus (human) PMID:32642408|REF_RGD_ID:152995512 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1604194 D RGD:9068941 20220623 RGD protein:increased expression:esophagus (human) PMID:28132115|REF_RGD_ID:152995470 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:5409 lung small cell carcinoma severity ISO RGD:1604194 D RGD:9068941 20220623 RGD associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human) PMID:31454632|REF_RGD_ID:152995447 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:5409 lung small cell carcinoma severity ISO RGD:1604194 D RGD:9068941 20220630 RGD DNA:CNV, amplification:exon (human) PMID:27863413|REF_RGD_ID:152995517 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:630 genetic disease ISO RGD:1604194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1556939 D RGD:9068941 20220630 RGD PMID:29303510|REF_RGD_ID:152995524 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1604194 D RGD:9068941 20220623 RGD mRNA, protein:increased expression:liver (human) PMID:25371154|REF_RGD_ID:152995471 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:8649 tongue cancer disease_progression ISO RGD:1604194 D RGD:9068941 20220630 RGD protein:increased expression:tongue (human) PMID:25749387|REF_RGD_ID:152995520 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1604194 D RGD:9068941 20220623 RGD associated with breast ductal carcinoma; protein:increased expression:breast tumor, lymph node (human) PMID:20978191|REF_RGD_ID:152995469 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:9002170 Experimental Neoplasms disease_progression ISO RGD:1556939 D RGD:9068941 20220623 RGD PMID:24244675|REF_RGD_ID:152995458 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:9006618 Liver Metastasis ISO RGD:1556939 D RGD:9068941 20220623 RGD PMID:30404068|REF_RGD_ID:152995463 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1604194 D RGD:9068941 20220623 RGD mRNA:increased expression:liver (human) PMID:30404068|REF_RGD_ID:152995463 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:9009121 lung metastasis ISO RGD:1556939 D RGD:9068941 20220630 RGD PMID:29809146|REF_RGD_ID:152995516 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:9009121 lung metastasis ISO RGD:1604194 D RGD:9068941 20220623 RGD human cells in mouse model PMID:20978191|REF_RGD_ID:152995469 8838468 Rictor RPTOR independent companion of MTOR complex 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1604194 D RGD:9068941 20220630 RGD associated with Lymphatic Metastasis; protein:increased expression:colon (human) PMID:27063170|REF_RGD_ID:152995519 8838524 Ckap4 cytoskeleton associated protein 4 gene DOID:630 genetic disease ISO RGD:1323735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838524 Ckap4 cytoskeleton associated protein 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323735 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:increased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 8838530 Tert telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16627250|PMID:16990594|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20502709|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25365545|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:2602487|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27836952|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495692|PMID:28677271|PMID:28813500|PMID:28873162|PMID:29036293|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31265491|PMID:31268371|PMID:31395865|PMID:32150348|PMID:32315675|PMID:33709208|PMID:33718801|PMID:34019641|PMID:9536098 8838530 Tert telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16627250|PMID:16990594|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20502709|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25365545|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:2602487|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27836952|PMID:27848944|PMID:27854218|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495692|PMID:28677271|PMID:28813500|PMID:28873162|PMID:29036293|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31268371|PMID:31395865|PMID:32150348|PMID:32315675|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34890115|PMID:9536098 8838530 Tert telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial idiopathic pulmonary fibrosis | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:16990594|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21543794|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23066086|PMID:23258901|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25346280|PMID:25365545|PMID:25393420|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:2602487|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26329388|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26887940|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27836952|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495683|PMID:28495692|PMID:28677271|PMID:28813500|PMID:28818973|PMID:28873162|PMID:29036293|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30426156|PMID:30523342|PMID:30603600|PMID:30791107|PMID:30995915|PMID:31268371|PMID:31395865|PMID:32150348|PMID:32315675|PMID:33035329|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34890115|PMID:9536098 8838530 Tert telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:15814878|PMID:16199547|PMID:16247010|PMID:17392301|PMID:17460043|PMID:17785587|PMID:18302718|PMID:18460650|PMID:19561322|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20301779|PMID:20502709|PMID:21436073|PMID:21520174|PMID:21543794|PMID:22364217|PMID:22853774|PMID:22863003|PMID:23335200|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24833766|PMID:25271372|PMID:25365545|PMID:25741868|PMID:26024875|PMID:26136524|PMID:26365799|PMID:27192671|PMID:27540018|PMID:27622320|PMID:27836952|PMID:28102861|PMID:28154186|PMID:28492532|PMID:28495683|PMID:28677271|PMID:28813500|PMID:29036293|PMID:29483670|PMID:30523342|PMID:30603600|PMID:31268371|PMID:34890115 8838530 Tert telomerase reverse transcriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis | ClinVar Annotator: match by term: Idiopathic fibrosing alveolitis, chronic form | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:15814878|PMID:16199547|PMID:16247010|PMID:17392301|PMID:17460043|PMID:17785587|PMID:18302718|PMID:18460650|PMID:18635888|PMID:19561322|PMID:19760749|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:21436073|PMID:21520174|PMID:22364217|PMID:22853774|PMID:22863003|PMID:23335200|PMID:23901009|PMID:24033266|PMID:24833766|PMID:25271372|PMID:25365545|PMID:25741868|PMID:26024875|PMID:26136524|PMID:26365799|PMID:27192671|PMID:27540018|PMID:27622320|PMID:27836952|PMID:28102861|PMID:28154186|PMID:28492532|PMID:28495683|PMID:28677271|PMID:28813500|PMID:29036293|PMID:29483670|PMID:30426156|PMID:30523342|PMID:30603600|PMID:31268371|PMID:34019641|PMID:34890115|PMID:35776903 8838530 Tert telomerase reverse transcriptase gene DOID:0050685 small cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP: :rs2736098(human) PMID:24761905|REF_RGD_ID:150530628 8838530 Tert telomerase reverse transcriptase gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNPs: :rs2736100,rs2736098(human) PMID:28025427|REF_RGD_ID:150530487 8838530 Tert telomerase reverse transcriptase gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplasia PMID:25741868|PMID:28492532|PMID:29463756|PMID:33718801 8838530 Tert telomerase reverse transcriptase gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:19270495|REF_RGD_ID:11038661 8838530 Tert telomerase reverse transcriptase gene DOID:0060074 ductal carcinoma in situ ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:15010825|REF_RGD_ID:2291992 8838530 Tert telomerase reverse transcriptase gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis PMID:16890917|PMID:28492532 8838530 Tert telomerase reverse transcriptase gene DOID:0070004 myeloid neoplasm ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 8838530 Tert telomerase reverse transcriptase gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1353510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:12167716|PMID:15885610|PMID:16247010|PMID:18042801|PMID:18635888|PMID:18931339|PMID:20301779|PMID:21436073|PMID:21602826|PMID:23901009|PMID:24033266|PMID:24833766|PMID:25365545|PMID:25741868|PMID:26360549|PMID:27418648|PMID:28154186|PMID:28492532|PMID:29483670|PMID:30523342|PMID:35776903 8838530 Tert telomerase reverse transcriptase gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:17785587|PMID:20301779|PMID:25741868|PMID:26887940|PMID:28192371|PMID:28492532|PMID:30603600 8838530 Tert telomerase reverse transcriptase gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1353510 D RGD:7240710 20180919 OMIM 8838530 Tert telomerase reverse transcriptase gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1353510 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12167716|PMID:12629597|PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:17264120|PMID:17392301|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21349926|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21520174|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23000435|PMID:23066086|PMID:23258901|PMID:23279657|PMID:23335200|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25244922|PMID:25271372|PMID:25365545|PMID:25393420|PMID:25562321|PMID:25612863|PMID:25640679|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26360549|PMID:26365799|PMID:26433962|PMID:26580448|PMID:26859482|PMID:26887940|PMID:27159321|PMID:27192671|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27622320|PMID:27824607|PMID:27836952|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28192371|PMID:28492532|PMID:28495683|PMID:28677271|PMID:28767289|PMID:28813500|PMID:28818973|PMID:28873162|PMID:29036293|PMID:29146883|PMID:29382801|PMID:29463756|PMID:29483670|PMID:29625052|PMID:29749397|PMID:30203795|PMID:30426156|PMID:30523342|PMID:30791107|PMID:30995915|PMID:31119896|PMID:31268371|PMID:31395865|PMID:32076714|PMID:32315675|PMID:33035329|PMID:33709208|PMID:33718801|PMID:34019641|PMID:34565437|PMID:34890115|PMID:35171259|PMID:35776903|PMID:37359275|PMID:9536098 8838530 Tert telomerase reverse transcriptase gene DOID:0070021 autosomal recessive dyskeratosis congenita 4 ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4 PMID:15814878|PMID:17785587|PMID:18042801|PMID:18635888|PMID:18753630|PMID:18931339|PMID:20301779|PMID:20502709|PMID:21258621|PMID:21602826|PMID:23901009|PMID:23905534|PMID:24033266|PMID:25365545|PMID:25741868|PMID:26887940|PMID:27418648|PMID:28192371|PMID:28492532|PMID:30523342|PMID:30603600|PMID:34890115 8838530 Tert telomerase reverse transcriptase gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1353510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8838530 Tert telomerase reverse transcriptase gene DOID:0080777 lung sarcomatoid carcinoma ISO RGD:1353510 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lung sarcomatoid carcinoma PMID:32923861 8838530 Tert telomerase reverse transcriptase gene DOID:10283 prostate cancer ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:plasma PMID:17108213|REF_RGD_ID:2291990 8838530 Tert telomerase reverse transcriptase gene DOID:10325 silicosis ISO RGD:70494 D RGD:9068941 20220609 RGD mRNA:increased expression:lung (rat) PMID:29230030|REF_RGD_ID:152977761 8838530 Tert telomerase reverse transcriptase gene DOID:1037 lymphoid leukemia ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 8838530 Tert telomerase reverse transcriptase gene DOID:10485 esophageal atresia ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8838530 Tert telomerase reverse transcriptase gene DOID:10534 stomach cancer ISO RGD:1353510 D RGD:9068941 20220602 RGD mRNA:increased expression:mucosa of stomach PMID:16696344|REF_RGD_ID:152977754 8838530 Tert telomerase reverse transcriptase gene DOID:10907 microcephaly ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8838530 Tert telomerase reverse transcriptase gene DOID:11054 urinary bladder cancer ISO RGD:1353510 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:20871597|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:25741868|PMID:26194807|PMID:26433962|PMID:28492532|PMID:28818973|PMID:31395865 8838530 Tert telomerase reverse transcriptase gene DOID:12241 beta thalassemia ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:18466174|REF_RGD_ID:11038664 8838530 Tert telomerase reverse transcriptase gene DOID:12449 aplastic anemia ISO RGD:1353510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:12167716|PMID:15814878|PMID:15885610|PMID:16332973|PMID:16627250|PMID:17460043|PMID:18042801|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21520173|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22424236|PMID:22476886|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26360549|PMID:26365799|PMID:26580448|PMID:27354474|PMID:27540018|PMID:27848944|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28677271|PMID:28813500|PMID:29146883|PMID:29483670|PMID:29625052|PMID:30203795|PMID:30523342|PMID:30791107|PMID:35776903 8838530 Tert telomerase reverse transcriptase gene DOID:12580 Cri-du-Chat syndrome ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12629597 8838530 Tert telomerase reverse transcriptase gene DOID:1319 brain cancer ameliorates ISO RGD:1353510 D RGD:9068941 20220609 RGD DNA:SNP:cds:rs2736100 (human) PMID:26014354|REF_RGD_ID:152985535 8838530 Tert telomerase reverse transcriptase gene DOID:1324 lung cancer ISO RGD:1353510 D RGD:9068941 20220603 RGD mRNA:increased expression:lung PMID:10969652|REF_RGD_ID:152977758 8838530 Tert telomerase reverse transcriptase gene DOID:14566 disease of cellular proliferation ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 8838530 Tert telomerase reverse transcriptase gene DOID:1612 breast cancer ISO RGD:1353510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:20301779|PMID:24033266|PMID:25741868|PMID:28492532 8838530 Tert telomerase reverse transcriptase gene DOID:1793 pancreatic cancer ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086665|PMID:26098869 8838530 Tert telomerase reverse transcriptase gene DOID:1883 hepatitis C disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:24634940|REF_RGD_ID:14696782 8838530 Tert telomerase reverse transcriptase gene DOID:1884 viral hepatitis disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:17212643|REF_RGD_ID:14696781 8838530 Tert telomerase reverse transcriptase gene DOID:1909 melanoma ISO RGD:1353510 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:20856939 8838530 Tert telomerase reverse transcriptase gene DOID:1909 melanoma ISO RGD:1353510 D RGD:9068941 20220512 RGD mRNA:increased expression:plasma PMID:14654933|REF_RGD_ID:2291969 8838530 Tert telomerase reverse transcriptase gene DOID:1909 melanoma ISO RGD:1353510 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs455433|rs2736100 (human) PMID:25231748|REF_RGD_ID:152995261 8838530 Tert telomerase reverse transcriptase gene DOID:1967 leiomyosarcoma ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:myometrium PMID:10652422|REF_RGD_ID:2298564 8838530 Tert telomerase reverse transcriptase gene DOID:2154 nephroblastoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:16172460|REF_RGD_ID:2291966 8838530 Tert telomerase reverse transcriptase gene DOID:224 transient cerebral ischemia treatment ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:21914402|REF_RGD_ID:11038669 8838530 Tert telomerase reverse transcriptase gene DOID:234 colon adenocarcinoma treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 8838530 Tert telomerase reverse transcriptase gene DOID:2361 macrocytic anemia ISO RGD:1353510 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Macrocytic anemia PMID:25741868|PMID:28099038|PMID:28492532|PMID:33035329 8838530 Tert telomerase reverse transcriptase gene DOID:2513 basal cell carcinoma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 8838530 Tert telomerase reverse transcriptase gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 8838530 Tert telomerase reverse transcriptase gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:urine, urothelial cell PMID:17961306|REF_RGD_ID:2291982 8838530 Tert telomerase reverse transcriptase gene DOID:2729 dyskeratosis congenita ISO RGD:1353510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:17460043|PMID:17576681|PMID:17785587|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20871597|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21520174|PMID:21602826|PMID:21635204|PMID:21931702|PMID:22037553|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22853774|PMID:23066086|PMID:23348503|PMID:23535731|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25365545|PMID:25393420|PMID:25562321|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26194807|PMID:26433962|PMID:26580448|PMID:26859482|PMID:27159321|PMID:27354474|PMID:27418648|PMID:27540018|PMID:27848944|PMID:28099038|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28495683|PMID:28818973|PMID:28873162|PMID:29146883|PMID:29483670|PMID:29625052|PMID:30203795|PMID:30523342|PMID:30603600|PMID:30791107|PMID:30995915|PMID:31119896|PMID:31395865|PMID:33035329|PMID:33718801|PMID:34019641|PMID:9536098 8838530 Tert telomerase reverse transcriptase gene DOID:3070 high grade glioma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18021753|PMID:19578367 8838530 Tert telomerase reverse transcriptase gene DOID:3082 interstitial lung disease ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:25741868|PMID:28492532|PMID:31268371 8838530 Tert telomerase reverse transcriptase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease PMID:25741868|PMID:28492532 8838530 Tert telomerase reverse transcriptase gene DOID:3307 teratoma ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:12168080|REF_RGD_ID:2298558 8838530 Tert telomerase reverse transcriptase gene DOID:3355 fibrosarcoma treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 8838530 Tert telomerase reverse transcriptase gene DOID:3393 coronary artery disease ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16890917 8838530 Tert telomerase reverse transcriptase gene DOID:3459 breast carcinoma ISO RGD:1353510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:15814878|PMID:17460043|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:28154186|PMID:28492532 8838530 Tert telomerase reverse transcriptase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353510 D RGD:9068941 20220603 RGD mRNA:increased expression:esophagus squamous epithelium: PMID:15112252|REF_RGD_ID:152977757 8838530 Tert telomerase reverse transcriptase gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP: :rs2736098(human) PMID:25007268|REF_RGD_ID:150530488 8838530 Tert telomerase reverse transcriptase gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNPs: : rs2853691,rs2736100(human) PMID:26716642|REF_RGD_ID:11572962 8838530 Tert telomerase reverse transcriptase gene DOID:3770 pulmonary fibrosis ISO RGD:1353510 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:12167716|PMID:15814878|PMID:15885610|PMID:16247010|PMID:17264120|PMID:17392301|PMID:17460043|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18931339|PMID:19760749|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:21349926|PMID:21483807|PMID:21602826|PMID:21931702|PMID:22364217|PMID:22664374|PMID:22853774|PMID:22863003|PMID:23901009|PMID:24033266|PMID:25271372|PMID:25365545|PMID:25562321|PMID:25741868|PMID:26024875|PMID:26360549|PMID:26859482|PMID:27418648|PMID:27540018|PMID:28099038|PMID:28102861|PMID:28154186|PMID:28192371|PMID:28492532|PMID:29483670|PMID:30523342|PMID:30995915|PMID:31268371|PMID:33035329|PMID:33718801|PMID:34890115 8838530 Tert telomerase reverse transcriptase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP:: rs2853669(human) PMID:23908149|REF_RGD_ID:150530498 8838530 Tert telomerase reverse transcriptase gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211224 RGD DNA:SNP::rs33963617(human) PMID:31935503|REF_RGD_ID:150530635 8838530 Tert telomerase reverse transcriptase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252717 8838530 Tert telomerase reverse transcriptase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20211224 RGD DNA:SNP: :rs2736098(human) PMID:24679952|REF_RGD_ID:150530644 8838530 Tert telomerase reverse transcriptase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20211224 RGD DNA:SNPs, haplotype: :rs2853669,rs2736108(human) PMID:27982019|REF_RGD_ID:150530632 8838530 Tert telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP: :rs2736098(human) PMID:23738012|PMID:24761905|REF_RGD_ID:150530485|REF_RGD_ID:150530628 8838530 Tert telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP:: rs2736100(human) PMID:19955392|REF_RGD_ID:150530502 8838530 Tert telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNPs:: rs2853669,rs2736108(human) PMID:23908149|REF_RGD_ID:150530498 8838530 Tert telomerase reverse transcriptase gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211224 RGD DNA:SNP::rs33963617(human) PMID:31935503|REF_RGD_ID:150530635 8838530 Tert telomerase reverse transcriptase gene DOID:3948 adrenocortical carcinoma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 8838530 Tert telomerase reverse transcriptase gene DOID:4450 renal cell carcinoma ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18250061|REF_RGD_ID:2291980 8838530 Tert telomerase reverse transcriptase gene DOID:4948 gallbladder carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP, haplotype: :rs2736100(human) PMID:29450669|REF_RGD_ID:150530629 8838530 Tert telomerase reverse transcriptase gene DOID:5016 hepatocellular clear cell carcinoma ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:20723213|REF_RGD_ID:14696785 8838530 Tert telomerase reverse transcriptase gene DOID:5016 hepatocellular clear cell carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:28460432|REF_RGD_ID:14696783 8838530 Tert telomerase reverse transcriptase gene DOID:557 kidney disease ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 8838530 Tert telomerase reverse transcriptase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 8838530 Tert telomerase reverse transcriptase gene DOID:612 primary immunodeficiency disease ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8838530 Tert telomerase reverse transcriptase gene DOID:630 genetic disease ISO RGD:1353510 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8838530 Tert telomerase reverse transcriptase gene DOID:6432 pulmonary hypertension ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:24376652|REF_RGD_ID:11038675 8838530 Tert telomerase reverse transcriptase gene DOID:6432 pulmonary hypertension treatment ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:24376652|REF_RGD_ID:11038675 8838530 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:23000435|PMID:25741868|PMID:28492532|PMID:28677271 8838530 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:SNP,mutations:promoter:rs2853669 (-245T >C), (-124C > T),(-146C > T)human PMID:26575952|REF_RGD_ID:11564803 8838530 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:mutations:promoter: PMID:25123086|REF_RGD_ID:14696767 8838530 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353510 D RGD:9068941 20220602 RGD associated with hepatitis B;DNA:SNP: :rs13167280 (human) PMID:23907815|REF_RGD_ID:152975963 8838530 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma no_association ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:19184104|REF_RGD_ID:14696769 8838530 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:mutations, polymorphisms:promoter,intron, exon:rs2736100,rs2736098(human) PMID:28416747|REF_RGD_ID:14696770 8838530 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNPs::rs2736098(human) PMID:25339005|REF_RGD_ID:150530496 8838530 Tert telomerase reverse transcriptase gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:17175353|REF_RGD_ID:14696768 8838530 Tert telomerase reverse transcriptase gene DOID:6846 familial melanoma ISO RGD:1353510 D RGD:7240710 20180130 OMIM 8838530 Tert telomerase reverse transcriptase gene DOID:6846 familial melanoma ISO RGD:1353510 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 PMID:20871597|PMID:21436073|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:24833766|PMID:25741868|PMID:26194807|PMID:26433962|PMID:28492532|PMID:28818973|PMID:29483670|PMID:31395865 8838530 Tert telomerase reverse transcriptase gene DOID:6846 familial melanoma ISO RGD:1353510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 PMID:20871597|PMID:21436073|PMID:22037553|PMID:23066086|PMID:23348503|PMID:23535731|PMID:24833766|PMID:25741868|PMID:26194807|PMID:26433962|PMID:28492532|PMID:28818973|PMID:29483670|PMID:31395865|PMID:35776903 8838530 Tert telomerase reverse transcriptase gene DOID:769 neuroblastoma ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26523776 8838530 Tert telomerase reverse transcriptase gene DOID:784 chronic kidney disease treatment ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:23013219|REF_RGD_ID:11038770 8838530 Tert telomerase reverse transcriptase gene DOID:8552 chronic myeloid leukemia ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 8838530 Tert telomerase reverse transcriptase gene DOID:8552 chronic myeloid leukemia ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:15068898|REF_RGD_ID:11038663 8838530 Tert telomerase reverse transcriptase gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17644806|REF_RGD_ID:2291985 8838530 Tert telomerase reverse transcriptase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:15798365|REF_RGD_ID:2291993 8838530 Tert telomerase reverse transcriptase gene DOID:9000039 Spinal Cord Injuries ISO RGD:70494 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:23793903|REF_RGD_ID:11038671 8838530 Tert telomerase reverse transcriptase gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1353510 D RGD:9068941 20220603 RGD associated with lung non-small cell carcinoma; PMID:11679180|REF_RGD_ID:152977755 8838530 Tert telomerase reverse transcriptase gene DOID:9000300 Refractory Anemia ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:18426652|REF_RGD_ID:11038658 8838530 Tert telomerase reverse transcriptase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 8838530 Tert telomerase reverse transcriptase gene DOID:9000528 Coronary Disease ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, susceptibility to PMID:16890917 8838530 Tert telomerase reverse transcriptase gene DOID:9000918 Disease Progression ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252717 8838530 Tert telomerase reverse transcriptase gene DOID:9000981 Autosomal Dominant Dyskeratosis Congenita ISO RGD:1353510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita autosomal dominant PMID:20301779|PMID:21436073|PMID:24833766|PMID:25741868|PMID:28492532|PMID:29483670|PMID:35776903 8838530 Tert telomerase reverse transcriptase gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1353510 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia PMID:20502709|PMID:25741868|PMID:28492532|PMID:34890115 8838530 Tert telomerase reverse transcriptase gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:70505 D RGD:9068941 20200609 RGD mRNA,protein,activity:increased expression, increased activity:kupffer cell: PMID:26725521|REF_RGD_ID:11574970 8838530 Tert telomerase reverse transcriptase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70494 D RGD:9068941 20200609 RGD protein:increased expression, increased localization:nucleus PMID:20353272|REF_RGD_ID:11038673 8838530 Tert telomerase reverse transcriptase gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:19545665|REF_RGD_ID:11038676 8838530 Tert telomerase reverse transcriptase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:17344921|REF_RGD_ID:11038662 8838530 Tert telomerase reverse transcriptase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717|PMID:21743467 8838530 Tert telomerase reverse transcriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535731 8838530 Tert telomerase reverse transcriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:serum PMID:17273731|REF_RGD_ID:2291989 8838530 Tert telomerase reverse transcriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD protein:increased activity:ovary PMID:10652422|REF_RGD_ID:2298564 8838530 Tert telomerase reverse transcriptase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19151717 8838530 Tert telomerase reverse transcriptase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17644806|REF_RGD_ID:2291985 8838530 Tert telomerase reverse transcriptase gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:21940960|REF_RGD_ID:11038672 8838530 Tert telomerase reverse transcriptase gene DOID:9004009 Reperfusion Injury ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16968891 8838530 Tert telomerase reverse transcriptase gene DOID:9004118 Experimental Melanoma treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 8838530 Tert telomerase reverse transcriptase gene DOID:9004268 Uterine Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:serum PMID:17273731|REF_RGD_ID:2291989 8838530 Tert telomerase reverse transcriptase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25383969 8838530 Tert telomerase reverse transcriptase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:12915632|REF_RGD_ID:2291994 8838530 Tert telomerase reverse transcriptase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:plasma PMID:14654933|REF_RGD_ID:2291969 8838530 Tert telomerase reverse transcriptase gene DOID:9005172 Lung Neoplasms ISO RGD:1353510 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:11323394|PMID:19151717|PMID:23433592 8838530 Tert telomerase reverse transcriptase gene DOID:9005172 Lung Neoplasms treatment ISO RGD:70505 D RGD:9068941 20200609 RGD PMID:19903903|REF_RGD_ID:11038656 8838530 Tert telomerase reverse transcriptase gene DOID:9005221 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 ISO RGD:1353510 D RGD:7240710 20180130 OMIM 8838530 Tert telomerase reverse transcriptase gene DOID:9005221 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 ISO RGD:1353510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 PMID:15814878|PMID:15885610|PMID:16199547|PMID:16247010|PMID:16332973|PMID:16627250|PMID:17264120|PMID:17392301|PMID:17460043|PMID:18042801|PMID:18302718|PMID:18460650|PMID:18635888|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19489057|PMID:19561322|PMID:19674077|PMID:19760749|PMID:19796246|PMID:20022961|PMID:20044353|PMID:20301779|PMID:20502709|PMID:20858879|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21483807|PMID:21520173|PMID:21635204|PMID:21931702|PMID:22364217|PMID:22424236|PMID:22476886|PMID:22512499|PMID:22664374|PMID:22853774|PMID:23335200|PMID:23538340|PMID:23716176|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25365545|PMID:25393420|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26136524|PMID:26158642|PMID:26365799|PMID:27354474|PMID:27540018|PMID:27622320|PMID:27836952|PMID:27848944|PMID:28102861|PMID:28104920|PMID:28154186|PMID:28492532|PMID:28677271|PMID:28813500|PMID:29146883|PMID:29483670|PMID:29625052|PMID:30203795|PMID:30523342|PMID:31268371|PMID:35776903 8838530 Tert telomerase reverse transcriptase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70494 D RGD:9068941 20200609 RGD PMID:20031167|REF_RGD_ID:2316310 8838530 Tert telomerase reverse transcriptase gene DOID:9005969 Refractory Anemia with Excess of Blasts ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:18426652|REF_RGD_ID:11038658 8838530 Tert telomerase reverse transcriptase gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:70494 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21264070|REF_RGD_ID:11038677 8838530 Tert telomerase reverse transcriptase gene DOID:9006946 Nonimmune Chronic Idiopathic Neutropenia, Adult ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:22133767|REF_RGD_ID:11038657 8838530 Tert telomerase reverse transcriptase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353510 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15814878|PMID:18302718|PMID:18460650|PMID:19561322|PMID:19760749|PMID:20301779|PMID:20502709|PMID:22853774|PMID:23901009|PMID:25741868|PMID:26024875|PMID:26365799|PMID:28154186|PMID:28492532|PMID:28813500|PMID:29483670 8838530 Tert telomerase reverse transcriptase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353510 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15814878|PMID:18302718|PMID:18460650|PMID:18635888|PMID:19561322|PMID:19760749|PMID:20044353|PMID:20301779|PMID:20502709|PMID:22853774|PMID:23901009|PMID:25741868|PMID:26024875|PMID:26365799|PMID:28154186|PMID:28492532|PMID:28495683|PMID:28813500|PMID:29483670 8838530 Tert telomerase reverse transcriptase gene DOID:9007188 Liver Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 8838530 Tert telomerase reverse transcriptase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:11078809|REF_RGD_ID:2298562 8838530 Tert telomerase reverse transcriptase gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs10069690,rs2242652(human) PMID:29507683|REF_RGD_ID:14696786 8838530 Tert telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535731 8838530 Tert telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:plasma PMID:14654933|REF_RGD_ID:2291969 8838530 Tert telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:17974999|REF_RGD_ID:2291981 8838530 Tert telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17616810|REF_RGD_ID:2291987 8838530 Tert telomerase reverse transcriptase gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-1381C>T,-659G>A,-244C>T (human) PMID:17848914|REF_RGD_ID:2291983 8838530 Tert telomerase reverse transcriptase gene DOID:9074 systemic lupus erythematosus ISO RGD:1353510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 8838530 Tert telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:7240710 20180130 OMIM 8838530 Tert telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26859482|PMID:28154186|PMID:28492532 8838530 Tert telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:23538340|PMID:23901009|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26859482|PMID:28154186|PMID:28492532 8838530 Tert telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21520173|PMID:21635204|PMID:22476886|PMID:22853774|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24983628|PMID:25108601|PMID:25741868|PMID:26024875|PMID:26859482|PMID:28154186|PMID:28492532 8838530 Tert telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia ISO RGD:1353510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to PMID:15814878|PMID:16332973|PMID:17460043|PMID:18042801|PMID:18460650|PMID:18753630|PMID:18931339|PMID:19147845|PMID:19760749|PMID:19796246|PMID:20301779|PMID:20966039|PMID:21258621|PMID:21436073|PMID:21520173|PMID:21635204|PMID:22476886|PMID:22853774|PMID:23538340|PMID:23901009|PMID:23905534|PMID:24033266|PMID:24833766|PMID:24983628|PMID:25108601|PMID:25741868|PMID:25785092|PMID:26024875|PMID:26859482|PMID:28154186|PMID:28492532|PMID:28873162|PMID:29483670|PMID:35776903 8838530 Tert telomerase reverse transcriptase gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:23826993|REF_RGD_ID:11038655 8838530 Tert telomerase reverse transcriptase gene DOID:9253 gastrointestinal stromal tumor susceptibility ISO RGD:1353510 D RGD:9068941 20211217 RGD DNA:SNP: :rs2736098(human) PMID:26372813|REF_RGD_ID:11531869 8838530 Tert telomerase reverse transcriptase gene DOID:9261 nasopharynx carcinoma ISO RGD:1353510 D RGD:9068941 20211217 RGD protein:increased expression:nasopharynx PMID:26621837|REF_RGD_ID:11564613 8838530 Tert telomerase reverse transcriptase gene DOID:9513 plasma cell leukemia ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:11237381|REF_RGD_ID:11038665 8838530 Tert telomerase reverse transcriptase gene DOID:9538 multiple myeloma ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:11237381|REF_RGD_ID:11038665 8838530 Tert telomerase reverse transcriptase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353510 D RGD:9068941 20200609 RGD PMID:15621763|REF_RGD_ID:11038667 8838530 Tert telomerase reverse transcriptase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1353510 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) PMID:23066086|REF_RGD_ID:11038654 8838553 Polr3a RNA polymerase III subunit A gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1351863 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:21855841|PMID:25339210|PMID:25741868|PMID:27612211|PMID:28459997|PMID:28492532|PMID:30414627|PMID:30450527 8838553 Polr3a RNA polymerase III subunit A gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:1351863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 PMID:29389947 8838553 Polr3a RNA polymerase III subunit A gene DOID:0060794 hypomyelinating leukodystrophy 7 ISO RGD:1351863 D RGD:7240710 20180130 OMIM 8838553 Polr3a RNA polymerase III subunit A gene DOID:0060794 hypomyelinating leukodystrophy 7 ISO RGD:1351863 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy PMID:12605447|PMID:16199547|PMID:17159124|PMID:17576681|PMID:20640464|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22819058|PMID:22855961|PMID:23355746|PMID:23694757|PMID:23965854|PMID:25339210|PMID:25741868|PMID:26096995|PMID:26752647|PMID:27029625|PMID:27506977|PMID:27521716|PMID:27535217|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29618326|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30847471|PMID:30898877|PMID:31069529|PMID:31438894|PMID:31637490|PMID:31932101|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32483275|PMID:32555393|PMID:32582862|PMID:32597037|PMID:32860008|PMID:33134517|PMID:33491183|PMID:33644862|PMID:34284285|PMID:34395528|PMID:34583988|PMID:34589056|PMID:36344503|PMID:37077564|PMID:614258|PMID:9536098 8838553 Polr3a RNA polymerase III subunit A gene DOID:0060797 hypomyelinating leukodystrophy 8 ISO RGD:1351863 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome PMID:21855841|PMID:22855961|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33491183|PMID:36344503 8838553 Polr3a RNA polymerase III subunit A gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1351863 D RGD:7240710 20190612 OMIM 8838553 Polr3a RNA polymerase III subunit A gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:1351863 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:12605447|PMID:16007586|PMID:16199547|PMID:19938095|PMID:21855841|PMID:22036171|PMID:22451160|PMID:22855961|PMID:23355746|PMID:23965854|PMID:25339210|PMID:25741868|PMID:25898808|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30847471|PMID:31637490|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32555393|PMID:32582862|PMID:32597037|PMID:32860008|PMID:33491183|PMID:36344503|PMID:614258 8838553 Polr3a RNA polymerase III subunit A gene DOID:0111887 Diamond-Blackfan anemia 3 ISO RGD:1351863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 PMID:25741868 8838553 Polr3a RNA polymerase III subunit A gene DOID:10579 leukodystrophy ISO RGD:1351863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:16199547|PMID:21855841|PMID:22855961|PMID:25339210|PMID:25741868|PMID:27612211|PMID:28459997|PMID:28492532|PMID:30414627|PMID:30450527|PMID:30847471 8838553 Polr3a RNA polymerase III subunit A gene DOID:10581 metachromatic leukodystrophy ISO RGD:1351863 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:21855841|PMID:25339210|PMID:25741868|PMID:27612211|PMID:28459997|PMID:28492532|PMID:30414627|PMID:30450527 8838553 Polr3a RNA polymerase III subunit A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351863 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:22855961|PMID:25741868|PMID:27029625 8838553 Polr3a RNA polymerase III subunit A gene DOID:630 genetic disease ISO RGD:1351863 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21855841|PMID:22855961|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26752647|PMID:27029625|PMID:27612211|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30414627|PMID:30450527|PMID:30847471|PMID:31637490|PMID:32373668|PMID:32597037|PMID:33491183|PMID:36344503|PMID:36530930|PMID:9536098 8838553 Polr3a RNA polymerase III subunit A gene DOID:9005213 Dysmyelinating Leukodystrophy with Oligodontia ISO RGD:1351863 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Dentoleukoencephalopathy PMID:21855841|PMID:22855961|PMID:25741868|PMID:27029625|PMID:28447407|PMID:28459997|PMID:28492532|PMID:29691679|PMID:30323018|PMID:30847471|PMID:31637490|PMID:31940116|PMID:32214227|PMID:32373668|PMID:32582862|PMID:32597037|PMID:32860008|PMID:33491183|PMID:34589056|PMID:36344503|PMID:614258 8838553 Polr3a RNA polymerase III subunit A gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1351863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 8838588 Gpr6 G protein-coupled receptor 6 gene DOID:630 genetic disease ISO RGD:737528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838597 Ipcef1 interaction protein for cytohesin exchange factors 1 gene DOID:1037 lymphoid leukemia ISO RGD:1603404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24292274 8838597 Ipcef1 interaction protein for cytohesin exchange factors 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1603404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8838597 Ipcef1 interaction protein for cytohesin exchange factors 1 gene DOID:630 genetic disease ISO RGD:1603404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838666 Fa2h fatty acid 2-hydroxylase gene DOID:0050952 spastic ataxia ISO RGD:1318772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:34445196 8838666 Fa2h fatty acid 2-hydroxylase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1318772 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:20853438|PMID:25741868|PMID:27217339|PMID:27316240|PMID:28492532|PMID:29423566|PMID:30713878|PMID:31130284|PMID:31135052|PMID:32907636|PMID:33059505|PMID:33083013|PMID:34852264 8838666 Fa2h fatty acid 2-hydroxylase gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1318772 D RGD:7240710 20180130 OMIM 8838666 Fa2h fatty acid 2-hydroxylase gene DOID:0110786 hereditary spastic paraplegia 35 ISO RGD:1318772 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19068277|PMID:20104589|PMID:20853438|PMID:22146942|PMID:22965561|PMID:23745665|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25326637|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26467025|PMID:27217339|PMID:27316240|PMID:27957547|PMID:28017243|PMID:28492532|PMID:29423566|PMID:30446360|PMID:30532373|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31407473|PMID:31429931|PMID:31690835|PMID:32624042|PMID:32907636|PMID:33083013|PMID:33144682|PMID:33246395|PMID:34445196|PMID:34852264|PMID:35578252|PMID:35872528|PMID:9536098 8838666 Fa2h fatty acid 2-hydroxylase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318772 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25741868|PMID:26467025|PMID:27217339|PMID:27957547|PMID:28017243|PMID:28492532|PMID:30713878|PMID:31135052|PMID:31429931|PMID:32624042|PMID:33144682|PMID:35578252 8838666 Fa2h fatty acid 2-hydroxylase gene DOID:2565 macular corneal dystrophy ISO RGD:1318772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 8838666 Fa2h fatty acid 2-hydroxylase gene DOID:607 paraplegia ISO RGD:1318772 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:20104589|PMID:20853438|PMID:23745665|PMID:24033266|PMID:24299421|PMID:24833714|PMID:25496456|PMID:25732363|PMID:25741868|PMID:26344562|PMID:26467025|PMID:27165006|PMID:27217339|PMID:27316240|PMID:27957547|PMID:28017243|PMID:28492532|PMID:29423566|PMID:29980238|PMID:30713878|PMID:31130284|PMID:31135052|PMID:31227335|PMID:31407473|PMID:31429931|PMID:31628766|PMID:32624042|PMID:32907636|PMID:33059505|PMID:33083013|PMID:33144682|PMID:33246395|PMID:34445196|PMID:34852264|PMID:35578252|PMID:9536098 8838666 Fa2h fatty acid 2-hydroxylase gene DOID:630 genetic disease ISO RGD:1318772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24299421|PMID:25741868|PMID:28492532|PMID:29980238|PMID:31135052|PMID:31227335|PMID:31429931|PMID:31628766|PMID:33144682 8838666 Fa2h fatty acid 2-hydroxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8838677 LOC102026412 olfactory receptor 6X1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8838677 LOC102026412 olfactory receptor 6X1 gene DOID:5419 schizophrenia ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8838677 LOC102026412 olfactory receptor 6X1 gene DOID:630 genetic disease ISO RGD:1349187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838677 LOC102026412 olfactory receptor 6X1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8838677 LOC102026412 olfactory receptor 6X1 gene DOID:9007661 Dwarfism ISO RGD:1349187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8838681 Erf ETS2 repressor factor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8838681 Erf ETS2 repressor factor gene DOID:1342 congenital hypoplastic anemia ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8838681 Erf ETS2 repressor factor gene DOID:1882 atrial heart septal defect ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 8838681 Erf ETS2 repressor factor gene DOID:2340 craniosynostosis ISO RGD:1323738 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:25741868|PMID:26097063|PMID:28492532|PMID:28808027|PMID:30758909|PMID:31785789 8838681 Erf ETS2 repressor factor gene DOID:2340 craniosynostosis ISO RGD:1323738 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:17576681|PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:29758562|PMID:30758909|PMID:31754721|PMID:31785789|PMID:32370745|PMID:9536098 8838681 Erf ETS2 repressor factor gene DOID:5419 schizophrenia ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8838681 Erf ETS2 repressor factor gene DOID:630 genetic disease ISO RGD:1323738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:30569521|PMID:30728880|PMID:30758909|PMID:31837199|PMID:32370745|PMID:32592542|PMID:8418638 8838681 Erf ETS2 repressor factor gene DOID:9001260 CHITAYAT SYNDROME ISO RGD:1323738 D RGD:7240710 20190315 OMIM 8838681 Erf ETS2 repressor factor gene DOID:9001260 CHITAYAT SYNDROME ISO RGD:1323738 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Chitayat syndrome PMID:23354439|PMID:25741868|PMID:27738187|PMID:28492532|PMID:29758562|PMID:30569521|PMID:30728880|PMID:30758909|PMID:32370745|PMID:32592542|PMID:8418638 8838681 Erf ETS2 repressor factor gene DOID:9001900 Arnold-Chiari Malformation ISO RGD:1323738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 8838681 Erf ETS2 repressor factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8838681 Erf ETS2 repressor factor gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8838681 Erf ETS2 repressor factor gene DOID:9003816 Macrocephaly ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 8838681 Erf ETS2 repressor factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323738 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23354439|PMID:25741868|PMID:27738187|PMID:28492532|PMID:29758562|PMID:30758909|PMID:32370745 8838681 Erf ETS2 repressor factor gene DOID:9004470 Craniosynostosis 4 ISO RGD:1323738 D RGD:7240710 20190327 OMIM 8838681 Erf ETS2 repressor factor gene DOID:9004470 Craniosynostosis 4 ISO RGD:1323738 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Craniosynostosis 4 PMID:23354439|PMID:25741868|PMID:26097063|PMID:27738187|PMID:28492532|PMID:28808027|PMID:29215649|PMID:29758562|PMID:30758909|PMID:32370745 8838681 Erf ETS2 repressor factor gene DOID:9005466 Language Development Disorders ISO RGD:1323738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 8838681 Erf ETS2 repressor factor gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 8838681 Erf ETS2 repressor factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354439 8838681 Erf ETS2 repressor factor gene DOID:9269 maple syrup urine disease ISO RGD:1323738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8838681 Erf ETS2 repressor factor gene DOID:936 brain disease ISO RGD:1323738 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8838681 Erf ETS2 repressor factor gene DOID:9538 multiple myeloma ISO RGD:1323738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8838696 Lpar3 lysophosphatidic acid receptor 3 gene DOID:630 genetic disease ISO RGD:1323219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838703 Nr2f6 nuclear receptor subfamily 2 group F member 6 gene DOID:289 endometriosis ISO RGD:733507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8838703 Nr2f6 nuclear receptor subfamily 2 group F member 6 gene DOID:630 genetic disease ISO RGD:733507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838703 Nr2f6 nuclear receptor subfamily 2 group F member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:733507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11850205 8838711 Erich3 glutamate rich 3 gene DOID:630 genetic disease ISO RGD:1603912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838738 Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:0111471 combined oxidative phosphorylation deficiency 30 ISO RGD:1314894 D RGD:7240710 20190315 OMIM 8838738 Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:0111471 combined oxidative phosphorylation deficiency 30 ISO RGD:1314894 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30 PMID:25741868|PMID:27132592 8838738 Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:630 genetic disease ISO RGD:1314894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8838738 Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit gene DOID:700 mitochondrial metabolism disease ISO RGD:1314894 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:27132592 8838746 Bivm basic, immunoglobulin-like variable motif containing gene DOID:0110878 holoprosencephaly 5 ISO RGD:1323580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 8838746 Bivm basic, immunoglobulin-like variable motif containing gene DOID:14701 propionic acidemia ISO RGD:1323580 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8838746 Bivm basic, immunoglobulin-like variable motif containing gene DOID:630 genetic disease ISO RGD:1323580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838746 Bivm basic, immunoglobulin-like variable motif containing gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1323580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8838746 Bivm basic, immunoglobulin-like variable motif containing gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1323580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 8838773 Nucb1 nucleobindin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:734023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8838773 Nucb1 nucleobindin 1 gene DOID:630 genetic disease ISO RGD:734023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838790 Ccdc190 coiled-coil domain containing 190 gene DOID:1540 parathyroid carcinoma ISO RGD:1606402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8838790 Ccdc190 coiled-coil domain containing 190 gene DOID:630 genetic disease ISO RGD:1606402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838790 Ccdc190 coiled-coil domain containing 190 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8838815 Mcts1 MCTS1 re-initiation and release factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8838815 Mcts1 MCTS1 re-initiation and release factor gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1351081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8838815 Mcts1 MCTS1 re-initiation and release factor gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1351081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8838815 Mcts1 MCTS1 re-initiation and release factor gene DOID:12849 autistic disorder ISO RGD:1351081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8838815 Mcts1 MCTS1 re-initiation and release factor gene DOID:9007628 Immunodeficiency 118 ISO RGD:1351081 D RGD:7240710 20240131 OMIM 8838815 Mcts1 MCTS1 re-initiation and release factor gene DOID:9007628 Immunodeficiency 118 ISO RGD:1351081 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Immunodeficiency 118 PMID:37875108 8838835 Scamp3 secretory carrier membrane protein 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8838835 Scamp3 secretory carrier membrane protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8838835 Scamp3 secretory carrier membrane protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8838835 Scamp3 secretory carrier membrane protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:68495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8838835 Scamp3 secretory carrier membrane protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8838835 Scamp3 secretory carrier membrane protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8838835 Scamp3 secretory carrier membrane protein 3 gene DOID:630 genetic disease ISO RGD:68495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838835 Scamp3 secretory carrier membrane protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8838849 Tnfsf18 TNF superfamily member 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8838849 Tnfsf18 TNF superfamily member 18 gene DOID:3755 antithrombin III deficiency ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8838849 Tnfsf18 TNF superfamily member 18 gene DOID:630 genetic disease ISO RGD:1312875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838849 Tnfsf18 TNF superfamily member 18 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8838849 Tnfsf18 TNF superfamily member 18 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8838849 Tnfsf18 TNF superfamily member 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8838854 Lrfn2 leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1323494 D RGD:9068941 20220825 MouseDO 8838854 Lrfn2 leucine rich repeat and fibronectin type III domain containing 2 gene DOID:630 genetic disease ISO RGD:1323493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838861 Ptgis prostaglandin I2 synthase gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8838861 Ptgis prostaglandin I2 synthase gene DOID:0050852 limb ischemia treatment ISO RGD:3438 D RGD:9068941 20240201 RGD rat gene in human cells in a mouse model PMID:19344900|REF_RGD_ID:401960096 8838861 Ptgis prostaglandin I2 synthase gene DOID:0050852 limb ischemia treatment ISO RGD:736622 D RGD:9068941 20240201 RGD human gene in a mouse model PMID:12586736|PMID:14568901|REF_RGD_ID:401959585|REF_RGD_ID:401960079 8838861 Ptgis prostaglandin I2 synthase gene DOID:0050860 colorectal adenoma susceptibility ISO RGD:736622 D RGD:9068941 20220204 RGD DNA:repeats:promoter: PMID:16537708|REF_RGD_ID:151347835 8838861 Ptgis prostaglandin I2 synthase gene DOID:0050866 oral squamous cell carcinoma ISO RGD:736622 D RGD:9068941 20220204 RGD mRNA,protein:decreased expression:mouth mucosa (human) PMID:30532780|REF_RGD_ID:151347832 8838861 Ptgis prostaglandin I2 synthase gene DOID:0060041 autism spectrum disorder ISO RGD:736622 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8838861 Ptgis prostaglandin I2 synthase gene DOID:0080491 cerebral cavernous malformation 1 exacerbates ISO RGD:736622 D RGD:9068941 20240201 RGD DNA:silent mutation:CDS:p.L256L (rs5628) (human) PMID:26795600|REF_RGD_ID:401960081 8838861 Ptgis prostaglandin I2 synthase gene DOID:10763 hypertension ISO RGD:3438 D RGD:9068941 20240201 RGD mRNA:increased expression:aortic endothelial cell (rat) PMID:18056786|REF_RGD_ID:401960082 8838861 Ptgis prostaglandin I2 synthase gene DOID:10763 hypertension ISO RGD:736622 D RGD:9068941 20200609 RGD PMID:12372404|REF_RGD_ID:1298040 8838861 Ptgis prostaglandin I2 synthase gene DOID:10763 hypertension ISO RGD:736622 D RGD:9068941 20240125 RGD DNA:repeat:promoter:g.-6(CCGCCAGCC)3-4 (human) PMID:10577996|REF_RGD_ID:401959586 8838861 Ptgis prostaglandin I2 synthase gene DOID:10763 hypertension susceptibility ISO RGD:736622 D RGD:9068941 20240125 RGD DNA:SNP:exon 8:g.1117C>A (rs6095558) (human) PMID:17070428|REF_RGD_ID:401959383 8838861 Ptgis prostaglandin I2 synthase gene DOID:10825 essential hypertension ISO RGD:736622 D RGD:7240710 20180130 OMIM 8838861 Ptgis prostaglandin I2 synthase gene DOID:10825 essential hypertension ISO RGD:736622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential hypertension PMID:12372404|PMID:25741868 8838861 Ptgis prostaglandin I2 synthase gene DOID:13001 carotid stenosis ISO RGD:736622 D RGD:9068941 20240125 RGD associated with cerebral infarction;DNA:SNP:3' utr: (rs5602) (human) PMID:28704403|REF_RGD_ID:401959402 8838861 Ptgis prostaglandin I2 synthase gene DOID:13832 patent ductus arteriosus ISO RGD:736622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336370 8838861 Ptgis prostaglandin I2 synthase gene DOID:13832 patent ductus arteriosus susceptibility ISO RGD:736622 D RGD:9068941 20240125 RGD DNA:SNP, haplotype:intron: (rs493694) (human) PMID:19336370|REF_RGD_ID:401959325 8838861 Ptgis prostaglandin I2 synthase gene DOID:14330 Parkinson's disease treatment ISO RGD:736622 D RGD:9068941 20240201 RGD human gene in a rat model PMID:23691265|REF_RGD_ID:401959749 8838861 Ptgis prostaglandin I2 synthase gene DOID:14557 primary pulmonary hypertension ISO RGD:736622 D RGD:9068941 20231130 RGD DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327) (human) PMID:32236489|REF_RGD_ID:401901150 8838861 Ptgis prostaglandin I2 synthase gene DOID:1936 atherosclerosis ISO RGD:736622 D RGD:9068941 20240125 RGD mRNA:decreased expression:artery (human) PMID:22112851|REF_RGD_ID:401959395 8838861 Ptgis prostaglandin I2 synthase gene DOID:219 colon cancer exacerbates ISO RGD:11183 D RGD:9068941 20220204 RGD PMID:26611322|REF_RGD_ID:11536046 8838861 Ptgis prostaglandin I2 synthase gene DOID:224 transient cerebral ischemia treatment ISO RGD:3438 D RGD:9068941 20240201 RGD PMID:27834752|REF_RGD_ID:401960086 8838861 Ptgis prostaglandin I2 synthase gene DOID:2316 brain ischemia ISO RGD:3438 D RGD:9068941 20200609 RGD PMID:16094316|REF_RGD_ID:8693629 8838861 Ptgis prostaglandin I2 synthase gene DOID:3526 cerebral infarction ISO RGD:736622 D RGD:9068941 20231130 RGD DNA:SNP, haplotype:3' utr: (rs5602) (human) PMID:28478978|REF_RGD_ID:401901149 8838861 Ptgis prostaglandin I2 synthase gene DOID:3526 cerebral infarction ISO RGD:736622 D RGD:9068941 20231207 RGD DNA:repeat:promoter:g.-6(CCGCCAGCC)3-7 (human) PMID:11130769|REF_RGD_ID:401901269 8838861 Ptgis prostaglandin I2 synthase gene DOID:3526 cerebral infarction exacerbates ISO RGD:736622 D RGD:9068941 20240125 RGD DNA:SNPs:exon, 3' utr: (rs5629, rs5602) (human) PMID:28108096|REF_RGD_ID:401959400 8838861 Ptgis prostaglandin I2 synthase gene DOID:3526 cerebral infarction treatment ISO RGD:3438 D RGD:9068941 20231207 RGD PMID:11997284|REF_RGD_ID:401901194 8838861 Ptgis prostaglandin I2 synthase gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:736622 D RGD:9068941 20220204 RGD protein:decreased expression:lung (human) PMID:16314486|REF_RGD_ID:151347842 8838861 Ptgis prostaglandin I2 synthase gene DOID:5844 myocardial infarction ISO RGD:736622 D RGD:9068941 20231130 RGD DNA:SNP::1117C>A (human) PMID:19040046|PMID:19327107|REF_RGD_ID:401901147|REF_RGD_ID:401901155 8838861 Ptgis prostaglandin I2 synthase gene DOID:5844 myocardial infarction ISO RGD:736622 D RGD:9068941 20231207 RGD DNA:silent mutation:exon 8:1117C>A (human) PMID:12040339|REF_RGD_ID:401901268 8838861 Ptgis prostaglandin I2 synthase gene DOID:5844 myocardial infarction susceptibility ISO RGD:736622 D RGD:9068941 20231130 RGD DNA:SNP:CDS: (rs5629) (human) PMID:19046748|REF_RGD_ID:2313891 8838861 Ptgis prostaglandin I2 synthase gene DOID:6000 congestive heart failure treatment ISO RGD:3438 D RGD:9068941 20240201 RGD PMID:27802898|REF_RGD_ID:401960097 8838861 Ptgis prostaglandin I2 synthase gene DOID:630 genetic disease ISO RGD:736622 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8838861 Ptgis prostaglandin I2 synthase gene DOID:6432 pulmonary hypertension ISO RGD:736622 D RGD:9068941 20240201 RGD protein:decreased expression:pulmonary artery (human) PMID:32673988|REF_RGD_ID:401960100 8838861 Ptgis prostaglandin I2 synthase gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:3438 D RGD:9068941 20200609 RGD rat gene in a mouse model PMID:10359560|REF_RGD_ID:727270 8838861 Ptgis prostaglandin I2 synthase gene DOID:6432 pulmonary hypertension treatment ISO RGD:3438 D RGD:9068941 20231130 RGD PMID:15684702|REF_RGD_ID:1580695 8838861 Ptgis prostaglandin I2 synthase gene DOID:6432 pulmonary hypertension treatment ISO RGD:736622 D RGD:9068941 20240125 RGD human gene in a rat model PMID:12019369|REF_RGD_ID:401959405 8838861 Ptgis prostaglandin I2 synthase gene DOID:8283 peritonitis ameliorates ISO RGD:11183 D RGD:9068941 20220204 RGD PMID:26611322|REF_RGD_ID:11536046 8838861 Ptgis prostaglandin I2 synthase gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:736622 D RGD:9068941 20220204 RGD associated with colorectal cancer; protein:increased expression:colorectum (human) PMID:22109564|REF_RGD_ID:151347833 8838861 Ptgis prostaglandin I2 synthase gene DOID:9001048 Nociceptive Pain ameliorates ISO RGD:11183 D RGD:9068941 20220204 RGD PMID:26611322|REF_RGD_ID:11536046 8838861 Ptgis prostaglandin I2 synthase gene DOID:9001820 Pulmonary Arterial Hypertension susceptibility ISO RGD:736622 D RGD:9068941 20240125 RGD DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356) (human) PMID:24605778|REF_RGD_ID:401959406 8838861 Ptgis prostaglandin I2 synthase gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:3438 D RGD:9068941 20231207 RGD PMID:18612919|REF_RGD_ID:401901264 8838861 Ptgis prostaglandin I2 synthase gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:736622 D RGD:9068941 20240201 RGD human gene in a rat model PMID:11034952|PMID:17635855|PMID:23841984|REF_RGD_ID:401901195|REF_RGD_ID:401959335|REF_RGD_ID:401959742 8838861 Ptgis prostaglandin I2 synthase gene DOID:9003281 Spontaneous Abortions ISO RGD:736622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8838861 Ptgis prostaglandin I2 synthase gene DOID:9005172 Lung Neoplasms ISO RGD:736622 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11830527 8838861 Ptgis prostaglandin I2 synthase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3438 D RGD:9068941 20240201 RGD PMID:8888351|REF_RGD_ID:401960094 8838861 Ptgis prostaglandin I2 synthase gene DOID:9005930 Endotoxemia treatment ISO RGD:3438 D RGD:9068941 20240201 RGD PMID:11076704|REF_RGD_ID:401960076 8838861 Ptgis prostaglandin I2 synthase gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced treatment ISO RGD:3438 D RGD:9068941 20240125 RGD PMID:12062720|REF_RGD_ID:401959327 8838861 Ptgis prostaglandin I2 synthase gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:3438 D RGD:9068941 20240201 RGD PMID:10073980|PMID:10536678|PMID:17303142|REF_RGD_ID:401959382|REF_RGD_ID:401959739|REF_RGD_ID:401960092 8838861 Ptgis prostaglandin I2 synthase gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:736622 D RGD:9068941 20231207 RGD human gene in a rat model PMID:9933282|REF_RGD_ID:401901254 8838861 Ptgis prostaglandin I2 synthase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:11183 D RGD:9068941 20240201 RGD mRNA:increased expression:kidney (mouse) PMID:30413885|REF_RGD_ID:401959745 8838861 Ptgis prostaglandin I2 synthase gene DOID:9006474 Arterial Occlusive Diseases exacerbates ISO RGD:736622 D RGD:9068941 20240125 RGD associated with cerebral infarction;DNA:SNPs:exon, 3' utr: (rs5629, rs5602) (human) PMID:28108096|REF_RGD_ID:401959400 8838861 Ptgis prostaglandin I2 synthase gene DOID:9007491 Childhood Schizophrenia ISO RGD:736622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8838861 Ptgis prostaglandin I2 synthase gene DOID:9007692 Insulin Resistance ISO RGD:3438 D RGD:9068941 20240201 RGD protein:decreased activity:aorta (rat) PMID:16528409|REF_RGD_ID:401960098 8838861 Ptgis prostaglandin I2 synthase gene DOID:9352 type 2 diabetes mellitus ISO RGD:736622 D RGD:9068941 20231130 RGD protein:decreased expression:hypodermis (human) PMID:24225501|REF_RGD_ID:401901153 8838874 LOC102006165 cytochrome c-type heme lyase gene DOID:0080600 COVID-19 ISO RGD:1352684 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8838874 LOC102006165 cytochrome c-type heme lyase gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1352684 D RGD:7240710 20180130 OMIM 8838874 LOC102006165 cytochrome c-type heme lyase gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1352684 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 PMID:16059943|PMID:17033964|PMID:17893649|PMID:25741868 8838874 LOC102006165 cytochrome c-type heme lyase gene DOID:0111875 MLS syndrome ISO RGD:1352684 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MLS syndrome PMID:17033964|PMID:25741868 8838874 LOC102006165 cytochrome c-type heme lyase gene DOID:1059 intellectual disability ISO RGD:1352684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 8838874 LOC102006165 cytochrome c-type heme lyase gene DOID:10629 microphthalmia ISO RGD:1352684 D RGD:9068941 20200609 RGD microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C PMID:17033964|REF_RGD_ID:1600417 8838874 LOC102006165 cytochrome c-type heme lyase gene DOID:10629 microphthalmia ISO RGD:1558032 D RGD:9068941 20220825 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 8838874 LOC102006165 cytochrome c-type heme lyase gene DOID:12849 autistic disorder ISO RGD:1352684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8838874 LOC102006165 cytochrome c-type heme lyase gene DOID:630 genetic disease ISO RGD:1352684 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 8838874 LOC102006165 cytochrome c-type heme lyase gene DOID:9001946 Skin Abnormalities ISO RGD:1352684 D RGD:9068941 20200609 RGD microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C PMID:17033964|REF_RGD_ID:1600417 8838874 LOC102006165 cytochrome c-type heme lyase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8838893 Parm1 prostate androgen-regulated mucin-like protein 1 gene DOID:630 genetic disease ISO RGD:1604031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838902 Clec1a C-type lectin domain family 1 member A gene DOID:13564 aspergillosis ISO RGD:1343742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aspergillosis, susceptibility to PMID:29489751 8838902 Clec1a C-type lectin domain family 1 member A gene DOID:13564 aspergillosis susceptibility ISO RGD:1343742 D RGD:7240710 20190502 OMIM 8838902 Clec1a C-type lectin domain family 1 member A gene DOID:630 genetic disease ISO RGD:1343742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838920 Xaf1 XIAP associated factor 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8838920 Xaf1 XIAP associated factor 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1606793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8838920 Xaf1 XIAP associated factor 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606793 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8838920 Xaf1 XIAP associated factor 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1606793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8838920 Xaf1 XIAP associated factor 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1606793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8838920 Xaf1 XIAP associated factor 1 gene DOID:3070 high grade glioma ISO RGD:1606793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28122345 8838920 Xaf1 XIAP associated factor 1 gene DOID:6000 congestive heart failure ISO RGD:1606793 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8838920 Xaf1 XIAP associated factor 1 gene DOID:630 genetic disease ISO RGD:1606793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838920 Xaf1 XIAP associated factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17087954 8838920 Xaf1 XIAP associated factor 1 gene DOID:9001488 Human Influenza ISO RGD:1606793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8838920 Xaf1 XIAP associated factor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1606793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15843754|PMID:17087954 8838920 Xaf1 XIAP associated factor 1 gene DOID:9006205 Animal Disease Models ISO RGD:1606793 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8838920 Xaf1 XIAP associated factor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17570219 8838953 Prf1 perforin 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:1553597 D RGD:9068941 20200609 RGD associated with Lymphocytic Choriomeningitis PMID:20049711|REF_RGD_ID:6482810 8838953 Prf1 perforin 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350272 D RGD:7240710 20180130 OMIM 8838953 Prf1 perforin 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350272 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial PMID:10583959|PMID:1156555|PMID:14757862|PMID:16860143|PMID:17873118|PMID:21674762|PMID:22437823|PMID:23255033|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25741868|PMID:28492532|PMID:31395954 8838953 Prf1 perforin 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1350272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 8838953 Prf1 perforin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1350272 D RGD:7240710 20180130 OMIM 8838953 Prf1 perforin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1350272 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11756153|PMID:11841437|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14576041|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15205266|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15609274|PMID:15632205|PMID:15659737|PMID:15718147|PMID:15728124|PMID:15755277|PMID:15755897|PMID:15924140|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17266056|PMID:17311987|PMID:17328077|PMID:17356398|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17576681|PMID:17601962|PMID:17606450|PMID:17627755|PMID:17674359|PMID:17873118|PMID:18074390|PMID:18190960|PMID:18496551|PMID:18710388|PMID:18799942|PMID:18927437|PMID:19484379|PMID:19487666|PMID:19595804|PMID:19639728|PMID:20015888|PMID:20019066|PMID:20055781|PMID:20092789|PMID:20197201|PMID:20638125|PMID:21152410|PMID:21157294|PMID:21234777|PMID:21674762|PMID:21881043|PMID:21931115|PMID:21959744|PMID:22186995|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23073044|PMID:23073290|PMID:23160464|PMID:23180437|PMID:23255033|PMID:23264592|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24215106|PMID:24309606|PMID:24390453|PMID:24578718|PMID:24744671|PMID:24916509|PMID:25047945|PMID:25215106|PMID:25233452|PMID:25297583|PMID:25326635|PMID:25326637|PMID:25354579|PMID:25577959|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26199792|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:26903364|PMID:27033761|PMID:27209435|PMID:27271812|PMID:27290639|PMID:27391055|PMID:27535533|PMID:27577878|PMID:27622035|PMID:27896523|PMID:28353193|PMID:28492532|PMID:28750028|PMID:28936583|PMID:29095814|PMID:29113160|PMID:29152263|PMID:29239076|PMID:29263817|PMID:29357941|PMID:29665027|PMID:30104219|PMID:30539918|PMID:30697212|PMID:30849948|PMID:30899265|PMID:31055813|PMID:31388699|PMID:31395954|PMID:31664448|PMID:31789783|PMID:32150605|PMID:32356861|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32696691|PMID:32963807|PMID:33225392|PMID:33258288|PMID:33365035|PMID:33658321|PMID:33746956|PMID:33822359|PMID:33869605|PMID:33942430|PMID:34170459|PMID:34677667|PMID:34938098|PMID:7851014|PMID:9536098 8838953 Prf1 perforin 1 gene DOID:10113 trypanosomiasis ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:19651871|REF_RGD_ID:6482814 8838953 Prf1 perforin 1 gene DOID:12365 malaria ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:21525386|REF_RGD_ID:6482803 8838953 Prf1 perforin 1 gene DOID:12449 aplastic anemia ISO RGD:1350272 D RGD:7240710 20180130 OMIM 8838953 Prf1 perforin 1 gene DOID:12449 aplastic anemia ISO RGD:1350272 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11756153|PMID:11841437|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:12725560|PMID:14576041|PMID:14739222|PMID:14757862|PMID:15205266|PMID:15365097|PMID:15632205|PMID:15728124|PMID:15755897|PMID:15924140|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16860143|PMID:17164654|PMID:17266056|PMID:17311987|PMID:17356398|PMID:17477373|PMID:17525286|PMID:17576681|PMID:17601962|PMID:17606450|PMID:17627755|PMID:17674359|PMID:17873118|PMID:18074390|PMID:18190960|PMID:18710388|PMID:18927437|PMID:19487666|PMID:19595804|PMID:19639728|PMID:20015888|PMID:20092789|PMID:20197201|PMID:21152410|PMID:21234777|PMID:21674762|PMID:21881043|PMID:21931115|PMID:21959744|PMID:22186995|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23073044|PMID:23073290|PMID:23160464|PMID:23180437|PMID:23255033|PMID:23264592|PMID:23443029|PMID:23592409|PMID:24309606|PMID:24390453|PMID:24578718|PMID:24744671|PMID:24916509|PMID:25047945|PMID:25215106|PMID:25233452|PMID:25297583|PMID:25326637|PMID:25354579|PMID:25577959|PMID:25741868|PMID:26184781|PMID:26199792|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:26903364|PMID:27033761|PMID:27209435|PMID:27271812|PMID:27391055|PMID:27577878|PMID:27622035|PMID:27896523|PMID:28492532|PMID:29113160|PMID:29239076|PMID:29357941|PMID:29665027|PMID:30697212|PMID:30849948|PMID:30899265|PMID:31388699|PMID:31395954|PMID:31789783|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32696691|PMID:33225392|PMID:33365035|PMID:33746956|PMID:33822359|PMID:34170459|PMID:34677667|PMID:7851014|PMID:9536098 8838953 Prf1 perforin 1 gene DOID:12849 autistic disorder ISO RGD:1350272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18762240 8838953 Prf1 perforin 1 gene DOID:13636 Fanconi anemia ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:21542827|REF_RGD_ID:6482802 8838953 Prf1 perforin 1 gene DOID:1520 colon carcinoma ISO RGD:708463 D RGD:9068941 20200609 RGD PMID:22420317|REF_RGD_ID:6482822 8838953 Prf1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1350272 D RGD:9068941 20200609 RGD DNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human) PMID:20921521|REF_RGD_ID:6482820 8838953 Prf1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1350272 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:22001684|REF_RGD_ID:6482817 8838953 Prf1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:19680139|REF_RGD_ID:6482805 8838953 Prf1 perforin 1 gene DOID:2377 multiple sclerosis ISO RGD:1553597 D RGD:9068941 20220825 MouseDO OMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 8838953 Prf1 perforin 1 gene DOID:2841 asthma ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:22250087|REF_RGD_ID:6482815 8838953 Prf1 perforin 1 gene DOID:2841 asthma ISO RGD:708463 D RGD:9068941 20200609 RGD PMID:21426642|REF_RGD_ID:6482818 8838953 Prf1 perforin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:708463 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:10886554|REF_RGD_ID:1599935 8838953 Prf1 perforin 1 gene DOID:2921 glomerulonephritis ISO RGD:708463 D RGD:9068941 20200609 RGD PMID:17622272|REF_RGD_ID:6482824 8838953 Prf1 perforin 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350272 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:12060139|PMID:12229880|PMID:12599189|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26450956|PMID:26684649|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014 8838953 Prf1 perforin 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17606450|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20092789|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:29665027|PMID:31388699|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33225392|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014 8838953 Prf1 perforin 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350272 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11841437|PMID:12060139|PMID:12229880|PMID:12599189|PMID:12716377|PMID:14739222|PMID:14757862|PMID:15077010|PMID:15342365|PMID:15365097|PMID:15459303|PMID:15659737|PMID:15728124|PMID:15755277|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16720836|PMID:16860143|PMID:17164654|PMID:17311987|PMID:17475905|PMID:17477373|PMID:17525286|PMID:17606450|PMID:17674359|PMID:17873118|PMID:18496551|PMID:18799942|PMID:18927437|PMID:19487666|PMID:20019066|PMID:20092789|PMID:20197201|PMID:21234777|PMID:21674762|PMID:21881043|PMID:22249210|PMID:22437823|PMID:22970278|PMID:23255033|PMID:23287865|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24309606|PMID:24916509|PMID:25047945|PMID:25233452|PMID:25741868|PMID:25776844|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26342526|PMID:26450956|PMID:26684649|PMID:26739415|PMID:27271812|PMID:27391055|PMID:27535533|PMID:28492532|PMID:29263817|PMID:29357941|PMID:29665027|PMID:31388699|PMID:31395954|PMID:31664448|PMID:32150605|PMID:32356861|PMID:32542393|PMID:32638196|PMID:33225392|PMID:33658321|PMID:33746956|PMID:34938098|PMID:7851014 8838953 Prf1 perforin 1 gene DOID:4330 non-Langerhans-cell histiocytosis ISO RGD:1350272 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutation, missense mutations: ; Lymphohistiocytosis, Hemophagocytic, OMIM:603553 PMID:11179007|REF_RGD_ID:1599929 8838953 Prf1 perforin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:20523897|REF_RGD_ID:6482808 8838953 Prf1 perforin 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1350272 D RGD:9068941 20200609 RGD DNA:SNP: :rs885822 (human) PMID:21157294|REF_RGD_ID:6482819 8838953 Prf1 perforin 1 gene DOID:630 genetic disease ISO RGD:1350272 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10583959|PMID:11179007|PMID:11565555|PMID:11756153|PMID:11841437|PMID:12060139|PMID:12229880|PMID:14757862|PMID:15365097|PMID:15728124|PMID:15755897|PMID:16278825|PMID:16374518|PMID:17164654|PMID:17674359|PMID:17873118|PMID:19487666|PMID:20197201|PMID:21234777|PMID:21881043|PMID:21959744|PMID:23073290|PMID:23160464|PMID:23443029|PMID:23592409|PMID:24916509|PMID:25741868|PMID:25845254|PMID:25937001|PMID:26184781|PMID:26221353|PMID:26684649|PMID:27271812|PMID:27577878|PMID:28492532|PMID:29263817|PMID:29357941|PMID:32542393|PMID:32638196|PMID:34938098 8838953 Prf1 perforin 1 gene DOID:820 myocarditis ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:21993400|REF_RGD_ID:6482790 8838953 Prf1 perforin 1 gene DOID:8544 chronic fatigue syndrome ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:21619669|REF_RGD_ID:6482801 8838953 Prf1 perforin 1 gene DOID:8729 milker's nodule ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:22396645|REF_RGD_ID:6482788 8838953 Prf1 perforin 1 gene DOID:8778 Crohn's disease ISO RGD:1350272 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:22021194|REF_RGD_ID:6482789 8838953 Prf1 perforin 1 gene DOID:9000998 Brain Injuries ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:20537642|REF_RGD_ID:6482807 8838953 Prf1 perforin 1 gene DOID:9001488 Human Influenza ISO RGD:1350272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26597256 8838953 Prf1 perforin 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1553597 D RGD:9068941 20200609 RGD PMID:20708278|REF_RGD_ID:6482806 8838953 Prf1 perforin 1 gene DOID:9002798 Macrophage Activation Syndrome ISO RGD:1350272 D RGD:9068941 20200609 RGD associated with Arthritis, Juvenile Rheumatoid;DNA:missense mutation:cds:p.A91V (human) PMID:20019066|REF_RGD_ID:6482811 8838953 Prf1 perforin 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1553597 D RGD:9068941 20200609 RGD associated with Colitis PMID:19785028|REF_RGD_ID:6482812 8838953 Prf1 perforin 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1350272 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell (human) PMID:25148254|REF_RGD_ID:40813739 8838953 Prf1 perforin 1 gene DOID:9004146 Flavivirus Infections ISO RGD:1553597 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, spleen PMID:21908734|REF_RGD_ID:6482795 8838953 Prf1 perforin 1 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1350272 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis PMID:10583959|PMID:11179007|PMID:1156555|PMID:11565555|PMID:11756153|PMID:12060139|PMID:12716377|PMID:14576041|PMID:14757862|PMID:15205266|PMID:15365097|PMID:15632205|PMID:15755897|PMID:16278825|PMID:16374518|PMID:16443553|PMID:16860143|PMID:17164654|PMID:17266056|PMID:17525286|PMID:17674359|PMID:17873118|PMID:18190960|PMID:18710388|PMID:19487666|PMID:19595804|PMID:19639728|PMID:21234777|PMID:21881043|PMID:21959744|PMID:22186995|PMID:22437823|PMID:23073290|PMID:23255033|PMID:23264592|PMID:23443029|PMID:23592409|PMID:24033266|PMID:24390453|PMID:24744671|PMID:24916509|PMID:25577959|PMID:25741868|PMID:26184781|PMID:26199792|PMID:26684649|PMID:27209435|PMID:27271812|PMID:27577878|PMID:27622035|PMID:27896523|PMID:28492532|PMID:28757574|PMID:29095814|PMID:29152263|PMID:29239076|PMID:29357941|PMID:29665027|PMID:30849948|PMID:31388699|PMID:31395954|PMID:31789783|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32696691|PMID:32963807|PMID:33365035|PMID:33658321|PMID:33746956 8838953 Prf1 perforin 1 gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1350272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal PMID:28492532 8838953 Prf1 perforin 1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1350272 D RGD:9068941 20200609 RGD PMID:21906646|REF_RGD_ID:6482798 8838953 Prf1 perforin 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1553597 D RGD:9068941 20220825 MouseDO OMIM:222100 8838960 Filip1 filamin A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1347231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838960 Filip1 filamin A interacting protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8838960 Filip1 filamin A interacting protein 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1347231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8838973 Fahd2a fumarylacetoacetate hydrolase domain containing 2A gene DOID:630 genetic disease ISO RGD:1345912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8838993 Scarb2 scavenger receptor class B member 2 gene DOID:0080600 COVID-19 ISO RGD:732465 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8838993 Scarb2 scavenger receptor class B member 2 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:732465 D RGD:7240710 20180130 OMIM 8838993 Scarb2 scavenger receptor class B member 2 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:732465 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure PMID:15364701|PMID:16199547|PMID:17576681|PMID:18308289|PMID:18424452|PMID:19454373|PMID:19597094|PMID:19847901|PMID:19933215|PMID:21670406|PMID:21796727|PMID:22032306|PMID:22767442|PMID:23225201|PMID:23515316|PMID:23659519|PMID:24339182|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:35478072|PMID:9536098 8838993 Scarb2 scavenger receptor class B member 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732465 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25088547|PMID:25741868|PMID:26467025|PMID:28492532 8838993 Scarb2 scavenger receptor class B member 2 gene DOID:1826 epilepsy ISO RGD:732465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8838993 Scarb2 scavenger receptor class B member 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:732465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 8838993 Scarb2 scavenger receptor class B member 2 gene DOID:630 genetic disease ISO RGD:732465 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18308289|PMID:19847901|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:9536098 8838993 Scarb2 scavenger receptor class B member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732465 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:15364701|PMID:16199547|PMID:17576681|PMID:18308289|PMID:19597094|PMID:19847901|PMID:19933215|PMID:21670406|PMID:22767442|PMID:23515316|PMID:23659519|PMID:24339182|PMID:24485911|PMID:24620919|PMID:25088547|PMID:25741868|PMID:26467025|PMID:26836416|PMID:28222800|PMID:28492532|PMID:29261713|PMID:29358611|PMID:35478072|PMID:9536098 8838993 Scarb2 scavenger receptor class B member 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:732465 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:25741868|PMID:28492532|PMID:29358611 8839010 Cdh4 cadherin 4 gene DOID:630 genetic disease ISO RGD:1343938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839010 Cdh4 cadherin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 8839010 Cdh4 cadherin 4 gene DOID:9007097 Microcephaly with Simplified Gyral Pattern ISO RGD:1343938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Simplified gyral pattern PMID:29706646 8839026 Msrb1 methionine sulfoxide reductase B1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8839026 Msrb1 methionine sulfoxide reductase B1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8839026 Msrb1 methionine sulfoxide reductase B1 gene DOID:1826 epilepsy ISO RGD:1312916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8839026 Msrb1 methionine sulfoxide reductase B1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8839026 Msrb1 methionine sulfoxide reductase B1 gene DOID:630 genetic disease ISO RGD:1312916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839034 Amn amnion associated transmembrane protein gene DOID:0050731 vitamin B12 deficiency ISO RGD:1318522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin B12 deficiency PMID:25741868 8839034 Amn amnion associated transmembrane protein gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1318522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 8839034 Amn amnion associated transmembrane protein gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1318522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8839034 Amn amnion associated transmembrane protein gene DOID:13382 megaloblastic anemia ISO RGD:1318522 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia | ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22929189|PMID:24044590|PMID:24156255|PMID:25741868|PMID:28492532|PMID:30523278|PMID:32045704|PMID:6741523|PMID:9536098 8839034 Amn amnion associated transmembrane protein gene DOID:13382 megaloblastic anemia susceptibility ISO RGD:1318522 D RGD:9068941 20200609 RGD PMID:12590260|REF_RGD_ID:1599101 8839034 Amn amnion associated transmembrane protein gene DOID:3021 acute kidney failure ISO RGD:1318522 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20514524 8839034 Amn amnion associated transmembrane protein gene DOID:630 genetic disease ISO RGD:1318522 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8839034 Amn amnion associated transmembrane protein gene DOID:9000197 Edema ISO RGD:1318522 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17698245 8839034 Amn amnion associated transmembrane protein gene DOID:9001392 Herpes Simplex Encephalitis 3 ISO RGD:1318522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 PMID:28492532 8839034 Amn amnion associated transmembrane protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:1318522 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16938409|PMID:17698245 8839034 Amn amnion associated transmembrane protein gene DOID:9006481 Imerslund-Grasbeck Syndrome 1 ISO RGD:1318522 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22929189|PMID:24044590|PMID:24156255|PMID:25741868|PMID:28492532|PMID:30523278|PMID:32045704|PMID:6741523|PMID:9536098 8839034 Amn amnion associated transmembrane protein gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1318522 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:18181028|PMID:21750092|PMID:22078000|PMID:22631584|PMID:22929189|PMID:24044590|PMID:24156255|PMID:25741868|PMID:28492532|PMID:30523278|PMID:30691194|PMID:32045704|PMID:33491342|PMID:6741523|PMID:9536098 8839034 Amn amnion associated transmembrane protein gene DOID:9007240 Imerslund-Grasbeck Syndrome 2 ISO RGD:1318522 D RGD:7240710 20200610 OMIM 8839034 Amn amnion associated transmembrane protein gene DOID:9007240 Imerslund-Grasbeck Syndrome 2 ISO RGD:1318522 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17114957|PMID:17285242|PMID:17576681|PMID:22078000|PMID:22929189|PMID:24044590|PMID:24156255|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:32045704|PMID:6741523|PMID:9536098 8839034 Amn amnion associated transmembrane protein gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:1318522 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17698245 8839041 Hsd17b11 hydroxysteroid 17-beta dehydrogenase 11 gene DOID:630 genetic disease ISO RGD:1352920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839041 Hsd17b11 hydroxysteroid 17-beta dehydrogenase 11 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8839057 Rcc1 regulator of chromosome condensation 1 gene DOID:630 genetic disease ISO RGD:1343250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839081 Znf276 zinc finger protein 276 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8839081 Znf276 zinc finger protein 276 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316682 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8839081 Znf276 zinc finger protein 276 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1316682 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12955722|PMID:15059067|PMID:15522956|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19109555|PMID:19139070|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25168418|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28873162|PMID:29098742|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31586946|PMID:31698007|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:34585473|PMID:9371798|PMID:9399890|PMID:9536098 8839081 Znf276 zinc finger protein 276 gene DOID:10907 microcephaly ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26689913|PMID:28202063|PMID:28492532|PMID:30032139 8839081 Znf276 zinc finger protein 276 gene DOID:13636 Fanconi anemia ISO RGD:1316682 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219 8839081 Znf276 zinc finger protein 276 gene DOID:13636 Fanconi anemia ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219 8839081 Znf276 zinc finger protein 276 gene DOID:13636 Fanconi anemia ISO RGD:1316682 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:27854218|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:9371798|PMID:9536098|PMID:9721219 8839081 Znf276 zinc finger protein 276 gene DOID:13636 Fanconi anemia ISO RGD:1316682 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:10090479|PMID:10094191|PMID:10521298|PMID:11091222|PMID:12444097|PMID:12697994|PMID:15059067|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:17327415|PMID:17576681|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:21273304|PMID:21659346|PMID:22178060|PMID:22778927|PMID:23021409|PMID:23613520|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24584348|PMID:24728327|PMID:24793135|PMID:25640679|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27041517|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28623394|PMID:28717661|PMID:28767289|PMID:29098742|PMID:29779353|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30792206|PMID:30919572|PMID:31248416|PMID:31586946|PMID:31613886|PMID:31698007|PMID:32546565|PMID:33172906|PMID:33686268|PMID:33718801|PMID:34512202|PMID:37349538|PMID:9371798|PMID:9536098|PMID:9721219 8839081 Znf276 zinc finger protein 276 gene DOID:14780 KBG syndrome ISO RGD:1316682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 8839081 Znf276 zinc finger protein 276 gene DOID:2394 ovarian cancer ISO RGD:1316682 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:26467025|PMID:28202063|PMID:28492532|PMID:30032139|PMID:9371798 8839081 Znf276 zinc finger protein 276 gene DOID:630 genetic disease ISO RGD:1316682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8839081 Znf276 zinc finger protein 276 gene DOID:769 neuroblastoma ISO RGD:1316682 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:15059067|PMID:17576681|PMID:24584348|PMID:25741868|PMID:27041517|PMID:28060124|PMID:28492532|PMID:29098742|PMID:9536098 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:18774170|REF_RGD_ID:11075096 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:15159311|REF_RGD_ID:11531140 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0060668 anencephaly susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:point mutation:intron:c.-26+755C>A (rs326119) (human) PMID:26045171|REF_RGD_ID:11098877 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0080016 spina bifida ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:12375236|REF_RGD_ID:1302512 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0080016 spina bifida susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:12590188|REF_RGD_ID:5508199 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0112255 homocystinuria-megaloblastic anemia cblE type ISO RGD:1318580 D RGD:7240710 20240320 OMIM 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:0112255 homocystinuria-megaloblastic anemia cblE type ISO RGD:1318580 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE PMID:10444342|PMID:10484769|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12555939|PMID:12923861|PMID:12971424|PMID:15292234|PMID:15494741|PMID:15714522|PMID:15979034|PMID:16199547|PMID:17576681|PMID:20120036|PMID:22887477|PMID:24033266|PMID:25227144|PMID:25526710|PMID:25741868|PMID:25978498|PMID:28492532|PMID:2860337|PMID:30041674|PMID:31063268|PMID:33980297|PMID:6700644|PMID:9501215|PMID:9536098 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:114 heart disease ISO RGD:1318580 D RGD:9068941 20200609 RGD PMID:15612980|REF_RGD_ID:1581051 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:12336 male infertility ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:14250 Down syndrome ISO RGD:1318580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Down syndrome, susceptibility to PMID:10444342|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12923861|PMID:15979034|PMID:25227144|PMID:25741868|PMID:28492532|PMID:9501215 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:14330 Parkinson's disease susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :1049A>G (human) PMID:21070756|REF_RGD_ID:5508183 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:1681 heart septal defect ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs326119(human) PMID:22179537|REF_RGD_ID:7244247 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:1793 pancreatic cancer ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G (human) PMID:18843018|REF_RGD_ID:2317118 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNPs:intron, exon:rs162049, p.H595Y (rs10380) (human) PMID:18515090|REF_RGD_ID:2325772 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:3565 meningioma susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNP: :66A>G, (rs1801394) (human) PMID:18483342|REF_RGD_ID:5508186 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:630 genetic disease ISO RGD:1318580 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10484769|PMID:12555939|PMID:15714522|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:655 inherited metabolic disorder ISO RGD:1318580 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:10444342|PMID:10484769|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12555939|PMID:12923861|PMID:12971424|PMID:15292234|PMID:15494741|PMID:15714522|PMID:15979034|PMID:20120036|PMID:22887477|PMID:25227144|PMID:25741868|PMID:25978498|PMID:28492532|PMID:33980297|PMID:9501215 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:657 adenoma ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389618 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNP: :66A>G(human) PMID:19035314|REF_RGD_ID:14696707 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:7693 abdominal aortic aneurysm susceptibility ISO RGD:1318580 D RGD:9068941 20230831 RGD DNA:SNP: (rs326118) (human) PMID:18635682|REF_RGD_ID:329853746 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G (human) PMID:21947961|REF_RGD_ID:5508217 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:863 nervous system disease ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:1318580 D RGD:7240710 20240320 OMIM 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:1318580 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to PMID:10444342|PMID:10484769|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12555939|PMID:12923861|PMID:12971424|PMID:15714522|PMID:15979034|PMID:16199547|PMID:20120036|PMID:22887477|PMID:24033266|PMID:25227144|PMID:25526710|PMID:25741868|PMID:25978498|PMID:28492532|PMID:30041674|PMID:33980297|PMID:9501215 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9002165 Diabetic Nephropathies ISO RGD:1318580 D RGD:9068941 20200609 RGD Associated with Diabetes Mellitus, Type 1;DNA:SNP:cds:66A>G, (rs1801394) (human) PMID:18774994|REF_RGD_ID:6893652 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9006281 Temporomandibular Joint Disorders susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I22M (rs1801394)(human) PMID:21615938|REF_RGD_ID:5490535 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16985020|PMID:17389618 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:18774170|REF_RGD_ID:11075096 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10444342|PMID:10500018|PMID:10930360|PMID:12375236|PMID:12923861|PMID:15979034|PMID:25227144|PMID:25741868|PMID:28492532|PMID:9501215 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9263 homocystinuria ISO RGD:1318580 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria PMID:10484769|PMID:15714522|PMID:24033266|PMID:25741868|PMID:28492532 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9279 hyperhomocysteinemia ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16575899|PMID:17369066 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9538 multiple myeloma susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:polymorphism: :66G>A(human) PMID:17655928|REF_RGD_ID:11075095 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1318580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17136115 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:SNP: :rs3776455(human) PMID:23940529|REF_RGD_ID:11531135 8839096 Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1318580 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:17136115|REF_RGD_ID:11531133 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1349414 D RGD:7240710 20180130 OMIM 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1349414 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:10464620|PMID:10694919|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12712061|PMID:1301192|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15612058|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17876723|PMID:18052040|PMID:1840600|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:21502868|PMID:21621718|PMID:22367733|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23535491|PMID:23618813|PMID:23757202|PMID:23871123|PMID:24033266|PMID:24446175|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25301364|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26169295|PMID:26169695|PMID:26320887|PMID:26377108|PMID:26499107|PMID:26550340|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27814975|PMID:27865842|PMID:27884455|PMID:28255779|PMID:28259515|PMID:28302345|PMID:28475290|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29556840|PMID:29966168|PMID:29995201|PMID:30153451|PMID:30788890|PMID:30795770|PMID:30912297|PMID:31122880|PMID:31139477|PMID:31941852|PMID:31965297|PMID:31980526|PMID:32005694|PMID:32036093|PMID:32071839|PMID:32280632|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32778503|PMID:32860008|PMID:33083013|PMID:33100332|PMID:33675270|PMID:34273913|PMID:34554397|PMID:34867278|PMID:35342016|PMID:35747619|PMID:35883096|PMID:36195244|PMID:7762557|PMID:8051942|PMID:8053910|PMID:8401540|PMID:8407868|PMID:8499909|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1349414 D RGD:7240710 20180130 OMIM 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1349414 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:10464620|PMID:10694919|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12694237|PMID:12712061|PMID:1301192|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17576681|PMID:17876723|PMID:18052040|PMID:1840600|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:21502868|PMID:21621718|PMID:22367733|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23535491|PMID:23618813|PMID:23724191|PMID:23757202|PMID:23871123|PMID:24033266|PMID:24446175|PMID:24643943|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26084044|PMID:26169295|PMID:26169695|PMID:26320887|PMID:26377108|PMID:26499107|PMID:26550340|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27814975|PMID:27865842|PMID:27884455|PMID:28255779|PMID:28259515|PMID:28302345|PMID:28475290|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29556840|PMID:29966168|PMID:29995201|PMID:30153451|PMID:30788890|PMID:30795770|PMID:30912297|PMID:31122880|PMID:31139477|PMID:31941852|PMID:31965297|PMID:31980526|PMID:32005694|PMID:32036093|PMID:32071839|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32860008|PMID:33083013|PMID:33100332|PMID:33675270|PMID:34273913|PMID:34554397|PMID:34660203|PMID:34867278|PMID:35747619|PMID:7762557|PMID:8051942|PMID:8053910|PMID:8225311|PMID:8401540|PMID:8407868|PMID:8499909|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408|PMID:9536098 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1349414 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:12369017|PMID:1391960|PMID:15221801|PMID:18815062|PMID:1885770|PMID:2023926|PMID:25741868|PMID:26499107|PMID:27243974|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31965297|PMID:32292456 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A PMID:12369017|PMID:15221801|PMID:15234149|PMID:15241805|PMID:19405096|PMID:23252888|PMID:23430884|PMID:24767253|PMID:25741868|PMID:26499107|PMID:28492532 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:1059 intellectual disability ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:14504 Niemann-Pick disease ISO RGD:1349414 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease PMID:1391960|PMID:15221801|PMID:18815062|PMID:1885770|PMID:2023926|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31965297|PMID:32292456 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:14504 Niemann-Pick disease susceptibility ISO RGD:1349414 D RGD:9068941 20200609 RGD Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple PMID:12556236|REF_RGD_ID:1601336 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:1926 Gaucher's disease ISO RGD:1349414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:25741868|PMID:28492532 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:557 kidney disease ISO RGD:1349414 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26980705 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1349414 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12369017|PMID:14681755|PMID:15234149|PMID:15241805|PMID:15877209|PMID:17011332|PMID:20111001|PMID:22367733|PMID:23252888|PMID:23412609|PMID:23420949|PMID:23430949|PMID:23871123|PMID:25741868|PMID:26499107|PMID:26550340|PMID:26981555|PMID:28255779|PMID:28259515|PMID:28492532|PMID:28590786|PMID:28703315|PMID:29556840|PMID:30788890|PMID:30795770|PMID:31941852|PMID:9266408 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:893 Wilson disease severity ISO RGD:1549719 D RGD:9068941 20200609 RGD PMID:17259995|REF_RGD_ID:1601345 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24951586 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:9004942 Niemann-Pick Disease, Intermediate, Protracted Neurovisceral ISO RGD:1349414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral PMID:14681755|PMID:15234149|PMID:15241805|PMID:15877209|PMID:17011332|PMID:17360762|PMID:23412609|PMID:23420949|PMID:23430949|PMID:25741868|PMID:26981555|PMID:28492532|PMID:28703315|PMID:7762557|PMID:8051942|PMID:9266408 8839115 Smpd1 sphingomyelin phosphodiesterase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1549719 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:14983401|REF_RGD_ID:1601347 8839133 Rgs3 regulator of G protein signaling 3 gene DOID:12528 lesion of sciatic nerve ISO RGD:3566 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:14550772|REF_RGD_ID:13524539 8839133 Rgs3 regulator of G protein signaling 3 gene DOID:365 bladder disease treatment ISO RGD:3566 D RGD:9068941 20200609 RGD associated with hypertension PMID:19689474|REF_RGD_ID:9684972 8839133 Rgs3 regulator of G protein signaling 3 gene DOID:630 genetic disease ISO RGD:731031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839133 Rgs3 regulator of G protein signaling 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8839203 Taf4b TATA-box binding protein associated factor 4b gene DOID:0070182 spermatogenic failure 13 ISO RGD:1319196 D RGD:7240710 20180130 OMIM 8839203 Taf4b TATA-box binding protein associated factor 4b gene DOID:0070182 spermatogenic failure 13 ISO RGD:1319196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 13 PMID:24431330 8839203 Taf4b TATA-box binding protein associated factor 4b gene DOID:1059 intellectual disability ISO RGD:1319196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8839203 Taf4b TATA-box binding protein associated factor 4b gene DOID:630 genetic disease ISO RGD:1319196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839223 Ppp1ca protein phosphatase 1 catalytic subunit alpha gene DOID:1059 intellectual disability ISO RGD:732541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8839223 Ppp1ca protein phosphatase 1 catalytic subunit alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:11132 D RGD:9068941 20200609 RGD PMID:12024026|REF_RGD_ID:737728 8839223 Ppp1ca protein phosphatase 1 catalytic subunit alpha gene DOID:6000 congestive heart failure ISO RGD:11132 D RGD:9068941 20200609 RGD PMID:12024026|REF_RGD_ID:737728 8839223 Ppp1ca protein phosphatase 1 catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:732541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839223 Ppp1ca protein phosphatase 1 catalytic subunit alpha gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732541 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8839223 Ppp1ca protein phosphatase 1 catalytic subunit alpha gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8839235 Hspb6 heat shock protein family B (small) member 6 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8839235 Hspb6 heat shock protein family B (small) member 6 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8839235 Hspb6 heat shock protein family B (small) member 6 gene DOID:114 heart disease ISO RGD:1343256 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18948619 8839235 Hspb6 heat shock protein family B (small) member 6 gene DOID:543 dystonia ISO RGD:1343256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8839235 Hspb6 heat shock protein family B (small) member 6 gene DOID:630 genetic disease ISO RGD:1343256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839235 Hspb6 heat shock protein family B (small) member 6 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343256 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18948619 8839242 CUNH2orf76 chromosome unknown C2orf76 homolog gene DOID:630 genetic disease ISO RGD:1606162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839266 Tut7 terminal uridylyl transferase 7 gene DOID:630 genetic disease ISO RGD:1344359 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839304 Cdk14 cyclin dependent kinase 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8839304 Cdk14 cyclin dependent kinase 14 gene DOID:630 genetic disease ISO RGD:1313632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839304 Cdk14 cyclin dependent kinase 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1313632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922871 8839345 Znf462 zinc finger protein 462 gene DOID:0060224 atrial fibrillation ISO RGD:1352850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8839345 Znf462 zinc finger protein 462 gene DOID:1059 intellectual disability ISO RGD:1352850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8839345 Znf462 zinc finger protein 462 gene DOID:14320 generalized anxiety disorder ISO RGD:1318312 D RGD:9068941 20220825 MouseDO 8839345 Znf462 zinc finger protein 462 gene DOID:1826 epilepsy ISO RGD:1352850 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8839345 Znf462 zinc finger protein 462 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29059373 8839345 Znf462 zinc finger protein 462 gene DOID:5426 primary ovarian insufficiency ISO RGD:1352850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8839345 Znf462 zinc finger protein 462 gene DOID:630 genetic disease ISO RGD:1352850 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31616000 8839345 Znf462 zinc finger protein 462 gene DOID:9005848 WEISS-KRUSZKA SYNDROME ISO RGD:1352850 D RGD:7240710 20191127 OMIM 8839345 Znf462 zinc finger protein 462 gene DOID:9005848 WEISS-KRUSZKA SYNDROME ISO RGD:1352850 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Metopic ridging-ptosis-facial dysmorphism syndrome | ClinVar Annotator: match by term: Weiss-kruszka syndrome PMID:25741868|PMID:28492532|PMID:28513610|PMID:31361404 8839345 Znf462 zinc finger protein 462 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1352850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:28513610 8839415 Glg1 golgi glycoprotein 1 gene DOID:607 paraplegia ISO RGD:734388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8839415 Glg1 golgi glycoprotein 1 gene DOID:630 genetic disease ISO RGD:734388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839415 Glg1 golgi glycoprotein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8839459 Csn1s1 casein alpha s1 gene DOID:630 genetic disease ISO RGD:1606842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839483 Prps2 phosphoribosyl pyrophosphate synthetase 2 gene DOID:12849 autistic disorder ISO RGD:737326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8839483 Prps2 phosphoribosyl pyrophosphate synthetase 2 gene DOID:630 genetic disease ISO RGD:737326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839483 Prps2 phosphoribosyl pyrophosphate synthetase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8839501 Dhrs9 dehydrogenase/reductase 9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736293 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8839501 Dhrs9 dehydrogenase/reductase 9 gene DOID:630 genetic disease ISO RGD:736293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839501 Dhrs9 dehydrogenase/reductase 9 gene DOID:9003996 Birth Weight ISO RGD:736293 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34200176 8839520 Lpcat4 lysophosphatidylcholine acyltransferase 4 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1604192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 8839520 Lpcat4 lysophosphatidylcholine acyltransferase 4 gene DOID:2717 Bloom syndrome ISO RGD:1604192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8839520 Lpcat4 lysophosphatidylcholine acyltransferase 4 gene DOID:630 genetic disease ISO RGD:1604192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839520 Lpcat4 lysophosphatidylcholine acyltransferase 4 gene DOID:9256 colorectal cancer ISO RGD:1604192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8839537 Selenbp1 selenium binding protein 1 gene DOID:0080422 Dravet syndrome ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8839537 Selenbp1 selenium binding protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8839537 Selenbp1 selenium binding protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8839537 Selenbp1 selenium binding protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733754 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8839537 Selenbp1 selenium binding protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8839537 Selenbp1 selenium binding protein 1 gene DOID:1686 glaucoma ISO RGD:733754 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 8839537 Selenbp1 selenium binding protein 1 gene DOID:2468 psychotic disorder ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18163446 8839537 Selenbp1 selenium binding protein 1 gene DOID:299 adenocarcinoma ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991897|PMID:15378696 8839537 Selenbp1 selenium binding protein 1 gene DOID:5419 schizophrenia ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16223876|PMID:18163446 8839537 Selenbp1 selenium binding protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8839537 Selenbp1 selenium binding protein 1 gene DOID:630 genetic disease ISO RGD:733754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839537 Selenbp1 selenium binding protein 1 gene DOID:655 inherited metabolic disorder ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255262 8839537 Selenbp1 selenium binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 8839537 Selenbp1 selenium binding protein 1 gene DOID:9000977 Halitosis ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255262 8839537 Selenbp1 selenium binding protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16380993|PMID:18272210 8839537 Selenbp1 selenium binding protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991897 8839537 Selenbp1 selenium binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 8839537 Selenbp1 selenium binding protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18435490 8839537 Selenbp1 selenium binding protein 1 gene DOID:9009235 Extraoral Halitosis due to Methanethiol Oxidase Deficiency ISO RGD:733754 D RGD:7240710 20190315 OMIM 8839537 Selenbp1 selenium binding protein 1 gene DOID:9009235 Extraoral Halitosis due to Methanethiol Oxidase Deficiency ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Extraoral halitosis due to methanethiol oxidase deficiency PMID:25741868|PMID:29255262 8839537 Selenbp1 selenium binding protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8839559 Abcf1 ATP binding cassette subfamily F member 1 gene DOID:11372 megacolon ISO RGD:734018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8839559 Abcf1 ATP binding cassette subfamily F member 1 gene DOID:1205 allergic disease ISO RGD:734018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8839559 Abcf1 ATP binding cassette subfamily F member 1 gene DOID:2843 long QT syndrome ISO RGD:734018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8839559 Abcf1 ATP binding cassette subfamily F member 1 gene DOID:552 pneumonia ISO RGD:734018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8839559 Abcf1 ATP binding cassette subfamily F member 1 gene DOID:630 genetic disease ISO RGD:734018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839559 Abcf1 ATP binding cassette subfamily F member 1 gene DOID:9000918 Disease Progression ISO RGD:734018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8839589 Atat1 alpha tubulin acetyltransferase 1 gene DOID:11372 megacolon ISO RGD:1347627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8839589 Atat1 alpha tubulin acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1347627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839589 Atat1 alpha tubulin acetyltransferase 1 gene DOID:9002189 High Myopia ISO RGD:1347627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8839589 Atat1 alpha tubulin acetyltransferase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1347627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8839605 Srp54 signal recognition particle 54 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1350478 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:25741868|PMID:28492532|PMID:28972538|PMID:29914977 8839605 Srp54 signal recognition particle 54 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1350478 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 8839605 Srp54 signal recognition particle 54 gene DOID:0112135 severe congenital neutropenia 8 ISO RGD:1350478 D RGD:7240710 20200226 OMIM 8839605 Srp54 signal recognition particle 54 gene DOID:0112135 severe congenital neutropenia 8 ISO RGD:1350478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant PMID:28492532|PMID:28972538|PMID:29914977 8839605 Srp54 signal recognition particle 54 gene DOID:630 genetic disease ISO RGD:1350478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28972538|PMID:29914977|PMID:34549814 8839605 Srp54 signal recognition particle 54 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350478 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8839633 Hoxb6 homeobox B6 gene DOID:630 genetic disease ISO RGD:1602502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839648 Thrsp thyroid hormone responsive gene DOID:1059 intellectual disability ISO RGD:734265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8839648 Thrsp thyroid hormone responsive gene DOID:305 carcinoma ISO RGD:734265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8839648 Thrsp thyroid hormone responsive gene DOID:630 genetic disease ISO RGD:734265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839648 Thrsp thyroid hormone responsive gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8839648 Thrsp thyroid hormone responsive gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8839654 F13a1 coagulation factor XIII A chain gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:732286 D RGD:9068941 20200609 RGD protein:increased expression:B lymphoblast: PMID:16894461|REF_RGD_ID:11041855 8839654 F13a1 coagulation factor XIII A chain gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:732286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:22833457|PMID:28492532 8839654 F13a1 coagulation factor XIII A chain gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:732286 D RGD:7240710 20200729 OMIM 8839654 F13a1 coagulation factor XIII A chain gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:732286 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:22995991|PMID:9531026 8839654 F13a1 coagulation factor XIII A chain gene DOID:10808 gastric ulcer ISO RGD:621495 D RGD:9068941 20200609 RGD PMID:11435721|REF_RGD_ID:708325 8839654 F13a1 coagulation factor XIII A chain gene DOID:11247 disseminated intravascular coagulation ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:16642548|REF_RGD_ID:1581020 8839654 F13a1 coagulation factor XIII A chain gene DOID:2211 factor XIII deficiency ISO RGD:732286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease PMID:31136071 8839654 F13a1 coagulation factor XIII A chain gene DOID:2213 hemorrhagic disease ISO RGD:732286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8839654 F13a1 coagulation factor XIII A chain gene DOID:2349 arteriosclerosis ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:11941274|REF_RGD_ID:1581023 8839654 F13a1 coagulation factor XIII A chain gene DOID:2452 thrombophilia ISO RGD:732286 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8839654 F13a1 coagulation factor XIII A chain gene DOID:3042 allergic contact dermatitis ISO RGD:732286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8839654 F13a1 coagulation factor XIII A chain gene DOID:5844 myocardial infarction ISO RGD:732286 D RGD:7240710 20230505 OMIM 8839654 F13a1 coagulation factor XIII A chain gene DOID:5844 myocardial infarction ISO RGD:732286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, protection against PMID:10365735|PMID:10910914|PMID:12072871|PMID:12456499|PMID:17393027|PMID:25741868|PMID:8025280|PMID:9459313|PMID:9550516 8839654 F13a1 coagulation factor XIII A chain gene DOID:630 genetic disease ISO RGD:732286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8839654 F13a1 coagulation factor XIII A chain gene DOID:8778 Crohn's disease ISO RGD:732286 D RGD:9068941 20200609 RGD associated with Fistula;protein:decreased activity:plasma: PMID:7611208|REF_RGD_ID:10450739 8839654 F13a1 coagulation factor XIII A chain gene DOID:8947 diabetic retinopathy ISO RGD:732286 D RGD:9068941 20200609 RGD protein:increased expression:optic choroid vascular plexus: PMID:11375345|REF_RGD_ID:8693344 8839654 F13a1 coagulation factor XIII A chain gene DOID:9000528 Coronary Disease ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:11391716|REF_RGD_ID:1581030 8839654 F13a1 coagulation factor XIII A chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:9550516|REF_RGD_ID:1581027 8839654 F13a1 coagulation factor XIII A chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1550288 D RGD:9068941 20200609 RGD PMID:12933578|REF_RGD_ID:10450744 8839654 F13a1 coagulation factor XIII A chain gene DOID:9003871 Venous Thrombosis ISO RGD:732286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10365735 8839654 F13a1 coagulation factor XIII A chain gene DOID:9003871 Venous Thrombosis ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:9920839|REF_RGD_ID:1581032 8839654 F13a1 coagulation factor XIII A chain gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:732286 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V34L(human) PMID:12358922|REF_RGD_ID:10450745 8839654 F13a1 coagulation factor XIII A chain gene DOID:9005854 Factor XIII, A Subunit, Deficiency Of ISO RGD:732286 D RGD:7240710 20180130 OMIM 8839654 F13a1 coagulation factor XIII A chain gene DOID:9005854 Factor XIII, A Subunit, Deficiency Of ISO RGD:732286 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Factor XIII subunit A deficiency | ClinVar Annotator: match by term: Factor XIII, A subunit, deficiency of PMID:10027709|PMID:10365735|PMID:10910914|PMID:11167856|PMID:11380452|PMID:11692020|PMID:12072871|PMID:12100162|PMID:12456499|PMID:12801297|PMID:1353995|PMID:14695539|PMID:16543965|PMID:16763156|PMID:17393027|PMID:17549292|PMID:17880458|PMID:19438481|PMID:20179087|PMID:21512576|PMID:21633364|PMID:21812861|PMID:22995991|PMID:24118344|PMID:24194833|PMID:25741868|PMID:26467025|PMID:26503545|PMID:26852661|PMID:28492532|PMID:28520207|PMID:31064749|PMID:33114181|PMID:33587123|PMID:7236530|PMID:7727776|PMID:7918041|PMID:8025280|PMID:8130686|PMID:8547636|PMID:8584988|PMID:9459313|PMID:9531026|PMID:9531593|PMID:9550516|PMID:9657440|PMID:9712293|PMID:9827915|PMID:9920838 8839654 F13a1 coagulation factor XIII A chain gene DOID:9006889 Uterine Hemorrhage ISO RGD:1550288 D RGD:9068941 20200609 RGD PMID:12933578|REF_RGD_ID:10450744 8839654 F13a1 coagulation factor XIII A chain gene DOID:9007096 Stroke ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:11692020|REF_RGD_ID:1581026 8839654 F13a1 coagulation factor XIII A chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1550288 D RGD:9068941 20200609 RGD PMID:22019897|REF_RGD_ID:11041813 8839654 F13a1 coagulation factor XIII A chain gene DOID:9008217 Hemorrhage ISO RGD:1550288 D RGD:9068941 20200609 RGD PMID:12529747|REF_RGD_ID:11041809 8839654 F13a1 coagulation factor XIII A chain gene DOID:9286 priapism susceptibility ISO RGD:732286 D RGD:9068941 20200609 RGD associated with sickle cell anemia;DNA:SNPs::multiple(human) PMID:17408468|REF_RGD_ID:10450728 8839654 F13a1 coagulation factor XIII A chain gene DOID:9477 pulmonary embolism ISO RGD:732286 D RGD:9068941 20200609 RGD PMID:12958612|REF_RGD_ID:1581021 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:0080690 RASopathy ISO RGD:731337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:731337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:5419 schizophrenia ISO RGD:731337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:630 genetic disease ISO RGD:731337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:731337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:731337 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Facial hypotonia 8839673 Usp2 ubiquitin specific peptidase 2 gene DOID:9007661 Dwarfism ISO RGD:731337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8839720 Igdcc3 immunoglobulin superfamily DCC subclass member 3 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1316476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8839720 Igdcc3 immunoglobulin superfamily DCC subclass member 3 gene DOID:2717 Bloom syndrome ISO RGD:1316476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8839720 Igdcc3 immunoglobulin superfamily DCC subclass member 3 gene DOID:630 genetic disease ISO RGD:1316476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839720 Igdcc3 immunoglobulin superfamily DCC subclass member 3 gene DOID:9256 colorectal cancer ISO RGD:1316476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8839738 Pabir1 PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 gene DOID:630 genetic disease ISO RGD:1321149 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839748 En1 engrailed homeobox 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1351603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8839748 En1 engrailed homeobox 1 gene DOID:0080855 Parkinsonism ISO RGD:1557783 D RGD:9068941 20200609 RGD PMID:17015829|REF_RGD_ID:5687199 8839748 En1 engrailed homeobox 1 gene DOID:14330 Parkinson's disease ISO RGD:1351603 D RGD:9068941 20200609 RGD DNA:SNP:enhancer: (rs1438852) (human) PMID:19345444|REF_RGD_ID:5687197 8839748 En1 engrailed homeobox 1 gene DOID:14330 Parkinson's disease ISO RGD:1618434 D RGD:9068941 20220825 MouseDO 8839748 En1 engrailed homeobox 1 gene DOID:630 genetic disease ISO RGD:1351603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839748 En1 engrailed homeobox 1 gene DOID:863 nervous system disease ISO RGD:1351603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892157 8839748 En1 engrailed homeobox 1 gene DOID:9000530 ENDOVE SYNDROME, LIMB-BRAIN TYPE ISO RGD:1351603 D RGD:7240710 20210414 OMIM 8839748 En1 engrailed homeobox 1 gene DOID:9000530 ENDOVE SYNDROME, LIMB-BRAIN TYPE ISO RGD:1351603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endove syndrome, limb-brain type PMID:33568816 8839748 En1 engrailed homeobox 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1351603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8839748 En1 engrailed homeobox 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1351603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8839762 Zcchc7 zinc finger CCHC-type containing 7 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8839762 Zcchc7 zinc finger CCHC-type containing 7 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321384 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8839762 Zcchc7 zinc finger CCHC-type containing 7 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8839762 Zcchc7 zinc finger CCHC-type containing 7 gene DOID:630 genetic disease ISO RGD:1321384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839762 Zcchc7 zinc finger CCHC-type containing 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321384 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8839762 Zcchc7 zinc finger CCHC-type containing 7 gene DOID:9870 galactosemia ISO RGD:1321384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8839780 Agfg1 ArfGAP with FG repeats 1 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1321482 D RGD:9068941 20220825 MouseDO 8839780 Agfg1 ArfGAP with FG repeats 1 gene DOID:630 genetic disease ISO RGD:1321481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839780 Agfg1 ArfGAP with FG repeats 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8839807 Pds5b PDS5 cohesin associated factor B gene DOID:630 genetic disease ISO RGD:1321969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839853 Msl1 MSL complex subunit 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:2307385 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8839853 Msl1 MSL complex subunit 1 gene DOID:630 genetic disease ISO RGD:2307385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839867 Ccdc30 coiled-coil domain containing 30 gene DOID:0081159 dilated cardiomyopathy 2C ISO RGD:1605139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c PMID:25741868|PMID:28492532|PMID:29754768 8839867 Ccdc30 coiled-coil domain containing 30 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8839867 Ccdc30 coiled-coil domain containing 30 gene DOID:630 genetic disease ISO RGD:1605139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8839929 Tnrc6c trinucleotide repeat containing adaptor 6C gene DOID:0080600 COVID-19 ISO RGD:1349772 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8839929 Tnrc6c trinucleotide repeat containing adaptor 6C gene DOID:1059 intellectual disability ISO RGD:1349772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8839929 Tnrc6c trinucleotide repeat containing adaptor 6C gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1349772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis PMID:28492532 8839929 Tnrc6c trinucleotide repeat containing adaptor 6C gene DOID:630 genetic disease ISO RGD:1349772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8839960 Gnb4 G protein subunit beta 4 gene DOID:0060224 atrial fibrillation ISO RGD:1348614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8839960 Gnb4 G protein subunit beta 4 gene DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F ISO RGD:1348614 D RGD:7240710 20180130 OMIM 8839960 Gnb4 G protein subunit beta 4 gene DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F ISO RGD:1348614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate F PMID:16199547|PMID:17576681|PMID:23434117|PMID:25741868|PMID:27549087|PMID:27908631|PMID:28166811|PMID:28492532|PMID:28642160|PMID:31211173|PMID:34071515|PMID:9536098 8839960 Gnb4 G protein subunit beta 4 gene DOID:0111546 Currarino syndrome ISO RGD:1348614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8839960 Gnb4 G protein subunit beta 4 gene DOID:1389 polyneuropathy ISO RGD:1348614 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 8839960 Gnb4 G protein subunit beta 4 gene DOID:630 genetic disease ISO RGD:1348614 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8839960 Gnb4 G protein subunit beta 4 gene DOID:6457 Cowden syndrome ISO RGD:1348614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 8839960 Gnb4 G protein subunit beta 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 8839973 Lama2 laminin subunit alpha 2 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy 8839973 Lama2 laminin subunit alpha 2 gene DOID:0080600 COVID-19 ISO RGD:1318918 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8839973 Lama2 laminin subunit alpha 2 gene DOID:0080918 polymicrogyria ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:20207543|PMID:25741868|PMID:28492532|PMID:29706646 8839973 Lama2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:7240710 20180130 OMIM 8839973 Lama2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31066047|PMID:31066050|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:34103343|PMID:34281576|PMID:34528292|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 8839973 Lama2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:33762593|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34925456|PMID:35734998|PMID:35902733|PMID:37526466|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 8839973 Lama2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A ISO RGD:1318918 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative PMID:10022829|PMID:10611118|PMID:1061118|PMID:10619025|PMID:10694916|PMID:10747011|PMID:10852549|PMID:11071490|PMID:11287370|PMID:11369186|PMID:11591858|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:16216942|PMID:16770791|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19294599|PMID:19388593|PMID:19763152|PMID:20207543|PMID:20307669|PMID:2152033|PMID:21520333|PMID:21896784|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22406018|PMID:22426012|PMID:22675738|PMID:23326386|PMID:23757202|PMID:23911319|PMID:24033266|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25326637|PMID:25332755|PMID:25525159|PMID:25640679|PMID:25663498|PMID:25741868|PMID:26104111|PMID:26304763|PMID:26436962|PMID:26467025|PMID:26607181|PMID:26633542|PMID:26962340|PMID:27159402|PMID:27234031|PMID:27353517|PMID:27357428|PMID:27447704|PMID:27708273|PMID:27854218|PMID:27858741|PMID:27858771|PMID:27896284|PMID:27932089|PMID:28182637|PMID:28445022|PMID:28492532|PMID:28554332|PMID:28688748|PMID:28877744|PMID:29172004|PMID:29212164|PMID:29376585|PMID:29382405|PMID:29465610|PMID:29706646|PMID:29707938|PMID:29773157|PMID:30055037|PMID:30147969|PMID:30293248|PMID:30301903|PMID:30373198|PMID:30827497|PMID:31040037|PMID:31066047|PMID:31066050|PMID:31069529|PMID:31130284|PMID:31309178|PMID:31395899|PMID:31694722|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32444167|PMID:32509318|PMID:32528171|PMID:32827036|PMID:32860008|PMID:32904964|PMID:32910545|PMID:32936536|PMID:33077954|PMID:33219631|PMID:33442022|PMID:33762593|PMID:34103343|PMID:34281576|PMID:34528292|PMID:34559299|PMID:34777456|PMID:34925456|PMID:35734998|PMID:35902733|PMID:36860576|PMID:37526466|PMID:7550355|PMID:8957020|PMID:9158149|PMID:9185182|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 8839973 Lama2 laminin subunit alpha 2 gene DOID:0110636 congenital merosin-deficient muscular dystrophy 1A treatment ISO RGD:1318919 D RGD:9068941 20200609 RGD PMID:28714989|REF_RGD_ID:13605609 8839973 Lama2 laminin subunit alpha 2 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786 8839973 Lama2 laminin subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24082139|PMID:24611677|PMID:25741868|PMID:26467025|PMID:27896284|PMID:28492532 8839973 Lama2 laminin subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1318918 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24082139|PMID:24611677|PMID:25741868|PMID:26467025|PMID:27896284|PMID:28492532|PMID:31066047|PMID:31395899|PMID:33442022|PMID:34281576 8839973 Lama2 laminin subunit alpha 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 8839973 Lama2 laminin subunit alpha 2 gene DOID:11054 urinary bladder cancer ISO RGD:1318918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8839973 Lama2 laminin subunit alpha 2 gene DOID:11830 myopia ISO RGD:1318918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 8839973 Lama2 laminin subunit alpha 2 gene DOID:11830 myopia susceptibility ISO RGD:1318918 D RGD:9068941 20200609 RGD DNA:SNP: :rs12205363(human) PMID:27611182|REF_RGD_ID:13605610 8839973 Lama2 laminin subunit alpha 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318918 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 8839973 Lama2 laminin subunit alpha 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 8839973 Lama2 laminin subunit alpha 2 gene DOID:1591 renovascular hypertension ISO RGD:1308889 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:10773239|REF_RGD_ID:1600206 8839973 Lama2 laminin subunit alpha 2 gene DOID:5419 schizophrenia ISO RGD:1318918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115 8839973 Lama2 laminin subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1318918 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10611118|PMID:11938437|PMID:12552556|PMID:12601554|PMID:16199547|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:20207543|PMID:21520333|PMID:21953594|PMID:22426012|PMID:22675738|PMID:24223650|PMID:24225367|PMID:24534542|PMID:24611677|PMID:25214167|PMID:25525159|PMID:25741868|PMID:26304763|PMID:26467025|PMID:26962340|PMID:28492532|PMID:29376585|PMID:30055037|PMID:30827497|PMID:31069529|PMID:32266982|PMID:32827036|PMID:32904964|PMID:32936536|PMID:33077954|PMID:33219631|PMID:34528292|PMID:35902733|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 8839973 Lama2 laminin subunit alpha 2 gene DOID:9003760 Myalgia ISO RGD:1318918 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myalgia PMID:18700894|PMID:25741868|PMID:28445022|PMID:28492532|PMID:30055037|PMID:32904964|PMID:9674786 8839973 Lama2 laminin subunit alpha 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1308889 D RGD:9068941 20200609 RGD PMID:10335943|REF_RGD_ID:1600207 8839973 Lama2 laminin subunit alpha 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1318918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 8839973 Lama2 laminin subunit alpha 2 gene DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency ISO RGD:1318918 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:10611118|PMID:10852549|PMID:11071490|PMID:12100448|PMID:12552556|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18700894|PMID:20207543|PMID:21520333|PMID:21896784|PMID:21953594|PMID:22166137|PMID:22426012|PMID:23326386|PMID:24082139|PMID:24223650|PMID:24225367|PMID:24611677|PMID:24957499|PMID:25525159|PMID:25587058|PMID:25741868|PMID:26467025|PMID:26607181|PMID:27159402|PMID:27353517|PMID:27854218|PMID:27896284|PMID:28182637|PMID:28492532|PMID:28688748|PMID:29706646|PMID:30055037|PMID:30301903|PMID:30827497|PMID:31066047|PMID:31395899|PMID:31983221|PMID:32154989|PMID:32266982|PMID:32904964|PMID:33442022|PMID:33762593|PMID:34281576|PMID:34528292|PMID:34925456|PMID:35902733|PMID:8957020|PMID:9158149|PMID:9536098|PMID:9541105|PMID:9674786 8839973 Lama2 laminin subunit alpha 2 gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1318918 D RGD:7240710 20190315 OMIM 8839973 Lama2 laminin subunit alpha 2 gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1318918 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:10611118|PMID:11071490|PMID:11369186|PMID:11938437|PMID:12100448|PMID:12552556|PMID:12601554|PMID:16199547|PMID:17576681|PMID:17949279|PMID:18414213|PMID:18700894|PMID:19388593|PMID:20207543|PMID:21520333|PMID:21922472|PMID:21953594|PMID:22166137|PMID:22426012|PMID:22675738|PMID:24223650|PMID:24225367|PMID:24611677|PMID:24957499|PMID:25124546|PMID:25214167|PMID:25332755|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26607181|PMID:26962340|PMID:27159402|PMID:27353517|PMID:27708273|PMID:27854218|PMID:27932089|PMID:28492532|PMID:28554332|PMID:28688748|PMID:29212164|PMID:29376585|PMID:29706646|PMID:29773157|PMID:30055037|PMID:30373198|PMID:30827497|PMID:31309178|PMID:31983221|PMID:32266982|PMID:32444167|PMID:32827036|PMID:32904964|PMID:32936536|PMID:33077954|PMID:35239206|PMID:8957020|PMID:9158149|PMID:9536098|PMID:9541105|PMID:9674786|PMID:9829280 8839973 Lama2 laminin subunit alpha 2 gene DOID:9884 muscular dystrophy ISO RGD:1318918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868|PMID:28492532 8839973 Lama2 laminin subunit alpha 2 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1318918 D RGD:9068941 20200609 RGD DNA:splice-site mutation, nonsense mutation PMID:7550355|REF_RGD_ID:1600200 8840050 Tgm2 transglutaminase 2 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:732488 D RGD:9068941 20220825 MouseDO OMIM:606391 8840050 Tgm2 transglutaminase 2 gene DOID:10608 celiac disease ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17190764 8840050 Tgm2 transglutaminase 2 gene DOID:10763 hypertension ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17898543 8840050 Tgm2 transglutaminase 2 gene DOID:1793 pancreatic cancer ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30108682 8840050 Tgm2 transglutaminase 2 gene DOID:2234 focal epilepsy ISO RGD:732487 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8840050 Tgm2 transglutaminase 2 gene DOID:3068 glioblastoma ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16170020|PMID:17099729 8840050 Tgm2 transglutaminase 2 gene DOID:4450 renal cell carcinoma ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8840050 Tgm2 transglutaminase 2 gene DOID:5082 liver cirrhosis severity ISO RGD:732488 D RGD:9068941 20201015 RGD associated with Schistosomiasis Japonica PMID:31200771|REF_RGD_ID:39938956 8840050 Tgm2 transglutaminase 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:732488 D RGD:9068941 20201015 RGD associated with Schistosomiasis Japonica PMID:31200771|REF_RGD_ID:39938956 8840050 Tgm2 transglutaminase 2 gene DOID:630 genetic disease ISO RGD:732487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840050 Tgm2 transglutaminase 2 gene DOID:8398 osteoarthritis ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8840050 Tgm2 transglutaminase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 8840050 Tgm2 transglutaminase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621081 D RGD:9068941 20200609 RGD PMID:12702643|REF_RGD_ID:1302539 8840050 Tgm2 transglutaminase 2 gene DOID:9007502 Brain Neoplasms ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16170020 8840050 Tgm2 transglutaminase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579870 8840067 Fbxo22 F-box protein 22 gene DOID:2717 Bloom syndrome ISO RGD:1315406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8840067 Fbxo22 F-box protein 22 gene DOID:5419 schizophrenia ISO RGD:1315406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8840067 Fbxo22 F-box protein 22 gene DOID:630 genetic disease ISO RGD:1315406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840067 Fbxo22 F-box protein 22 gene DOID:9256 colorectal cancer ISO RGD:1315406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8840078 Sv2b synaptic vesicle glycoprotein 2B gene DOID:10283 prostate cancer ISO RGD:1343420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8840078 Sv2b synaptic vesicle glycoprotein 2B gene DOID:12377 spinal muscular atrophy ISO RGD:1332062 D RGD:9068941 20211203 RGD protein:decreased expression:multiple (mouse) PMID:28173138|REF_RGD_ID:11535337 8840078 Sv2b synaptic vesicle glycoprotein 2B gene DOID:557 kidney disease ISO RGD:1343420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16943307 8840078 Sv2b synaptic vesicle glycoprotein 2B gene DOID:630 genetic disease ISO RGD:1343420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840111 Znf608 zinc finger protein 608 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8840111 Znf608 zinc finger protein 608 gene DOID:630 genetic disease ISO RGD:1315658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840111 Znf608 zinc finger protein 608 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8840111 Znf608 zinc finger protein 608 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8840137 Adad1 adenosine deaminase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840137 Adad1 adenosine deaminase domain containing 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1606972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8840137 Adad1 adenosine deaminase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8840159 Hoxb4 homeobox B4 gene DOID:630 genetic disease ISO RGD:1344417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840166 Lrrc24 leucine rich repeat containing 24 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1605162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 8840166 Lrrc24 leucine rich repeat containing 24 gene DOID:630 genetic disease ISO RGD:1605162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840191 Arg1 arginase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8840191 Arg1 arginase 1 gene DOID:0060180 colitis severity ISO RGD:1353986 D RGD:9068941 20201023 RGD PMID:28423665|REF_RGD_ID:39939041 8840191 Arg1 arginase 1 gene DOID:0080000 muscular disease ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 8840191 Arg1 arginase 1 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:736430 D RGD:9068941 20200619 RGD mRNA:increased expression:lung PMID:31838832|REF_RGD_ID:30309204 8840191 Arg1 arginase 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2150 D RGD:9068941 20200609 RGD PMID:20697209|REF_RGD_ID:4142795 8840191 Arg1 arginase 1 gene DOID:0081190 autosomal recessive intellectual developmental disorder 18 ISO RGD:1353986 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 18 PMID:25741868|PMID:28492532 8840191 Arg1 arginase 1 gene DOID:10320 asbestosis ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26699812 8840191 Arg1 arginase 1 gene DOID:10325 silicosis ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292275 8840191 Arg1 arginase 1 gene DOID:10325 silicosis ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:17365572|REF_RGD_ID:4143368 8840191 Arg1 arginase 1 gene DOID:10763 hypertension ISO RGD:2150 D RGD:9068941 20200609 RGD PMID:18475148|REF_RGD_ID:4142834 8840191 Arg1 arginase 1 gene DOID:10763 hypertension ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:17223136|REF_RGD_ID:1626296 8840191 Arg1 arginase 1 gene DOID:13141 uveitis ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye (rat) PMID:12470967|REF_RGD_ID:631755 8840191 Arg1 arginase 1 gene DOID:13580 cholestasis ISO RGD:2150 D RGD:9068941 20200609 RGD protein:altered activity:liver (rat) PMID:15916970|REF_RGD_ID:4143230 8840191 Arg1 arginase 1 gene DOID:2841 asthma ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19281908|PMID:19800904 8840191 Arg1 arginase 1 gene DOID:2841 asthma ISO RGD:1353986 D RGD:9068941 20200609 RGD DNA:SNP: :rs2781667 (human) PMID:20124949|REF_RGD_ID:5129205 8840191 Arg1 arginase 1 gene DOID:2841 asthma ISO RGD:1353986 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, mononuclear cell (human) PMID:12813022|REF_RGD_ID:4143187 8840191 Arg1 arginase 1 gene DOID:2841 asthma ISO RGD:736430 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:12813022|REF_RGD_ID:4143187 8840191 Arg1 arginase 1 gene DOID:2914 immune system disease ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 8840191 Arg1 arginase 1 gene DOID:3021 acute kidney failure ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal tubule (rat) PMID:12371970|REF_RGD_ID:631989 8840191 Arg1 arginase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8840191 Arg1 arginase 1 gene DOID:409 liver disease ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:16872590|REF_RGD_ID:1599211 8840191 Arg1 arginase 1 gene DOID:421 hair disease ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 8840191 Arg1 arginase 1 gene DOID:5199 ureteral obstruction ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, glomerulus (rat) PMID:18552509|REF_RGD_ID:4143282 8840191 Arg1 arginase 1 gene DOID:630 genetic disease ISO RGD:1353986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10502833|PMID:12052859|PMID:21802329|PMID:25741868|PMID:28492532|PMID:29726057|PMID:7649538 8840191 Arg1 arginase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1353986 D RGD:9068941 20200609 RGD PMID:17210712|REF_RGD_ID:4140476 8840191 Arg1 arginase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353986 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 8840191 Arg1 arginase 1 gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:736430 D RGD:9068941 20230831 RGD PMID:28062499|REF_RGD_ID:329955458 8840191 Arg1 arginase 1 gene DOID:9001015 Intestinal Fistula ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon (rat) PMID:12654563|REF_RGD_ID:4144044 8840191 Arg1 arginase 1 gene DOID:9001443 Hypercapnia ISO RGD:2150 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:19666777|REF_RGD_ID:4143279 8840191 Arg1 arginase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:11931836|REF_RGD_ID:1626298 8840191 Arg1 arginase 1 gene DOID:9001600 Wounds and Injuries ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:wound, fibroblast (rat) PMID:12069499|REF_RGD_ID:634666 8840191 Arg1 arginase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2150 D RGD:9068941 20200609 RGD RNA:increased expression:thoracic aorta: PMID:29741931|REF_RGD_ID:13792602 8840191 Arg1 arginase 1 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1353986 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:16387594|REF_RGD_ID:5129207 8840191 Arg1 arginase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:17023552|REF_RGD_ID:4143185 8840191 Arg1 arginase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:aorta, liver (rat) PMID:17967788|REF_RGD_ID:4142848 8840191 Arg1 arginase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8840191 Arg1 arginase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22872058 8840191 Arg1 arginase 1 gene DOID:9007480 Hyperoxia ISO RGD:2150 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:9688940|REF_RGD_ID:4144054 8840191 Arg1 arginase 1 gene DOID:9007692 Insulin Resistance ISO RGD:2150 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:20593143|REF_RGD_ID:4142796 8840191 Arg1 arginase 1 gene DOID:9007874 Liver Failure ISO RGD:2150 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 8840191 Arg1 arginase 1 gene DOID:9009138 Citrullinemia Type 2 ISO RGD:1353986 D RGD:9068941 20200609 RGD protein:altered expression:liver PMID:3369364|REF_RGD_ID:13628398 8840191 Arg1 arginase 1 gene DOID:9065 leishmaniasis ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21232540 8840191 Arg1 arginase 1 gene DOID:9252 amino acid metabolic disorder ISO RGD:1353986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239484 8840191 Arg1 arginase 1 gene DOID:9278 hyperargininemia ISO RGD:1353986 D RGD:7240710 20180130 OMIM 8840191 Arg1 arginase 1 gene DOID:9278 hyperargininemia ISO RGD:1353986 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arginase deficiency PMID:10502833|PMID:11883902|PMID:12052859|PMID:1463019|PMID:15565656|PMID:1598908|PMID:16199547|PMID:17576681|PMID:18666241|PMID:18957279|PMID:19052914|PMID:19562505|PMID:19936428|PMID:21310339|PMID:21802329|PMID:22959135|PMID:22964440|PMID:2365823|PMID:23859858|PMID:24103480|PMID:24482476|PMID:24814679|PMID:25741868|PMID:26169240|PMID:26310552|PMID:27038030|PMID:27898091|PMID:28089752|PMID:28492532|PMID:29443755|PMID:29726057|PMID:30285816|PMID:31130284|PMID:32450233|PMID:32769929|PMID:32778825|PMID:33193012|PMID:34419780|PMID:34782662|PMID:3658675|PMID:480013|PMID:624188|PMID:7649538|PMID:7981719|PMID:8902193|PMID:9536098 8840191 Arg1 arginase 1 gene DOID:9278 hyperargininemia susceptibility ISO RGD:1353986 D RGD:9068941 20200609 RGD PMID:7649538|REF_RGD_ID:1599208 8840212 Dcdc2b doublecortin domain containing 2B gene DOID:630 genetic disease ISO RGD:1604739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840223 Igflr1 IGF like family receptor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8840223 Igflr1 IGF like family receptor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8840223 Igflr1 IGF like family receptor 1 gene DOID:543 dystonia ISO RGD:1605956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8840223 Igflr1 IGF like family receptor 1 gene DOID:630 genetic disease ISO RGD:1605956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840224 Bloc1s1 biogenesis of lysosomal organelles complex 1 subunit 1 gene DOID:630 genetic disease ISO RGD:1316833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:0080195 Marinesco-Sjogren syndrome ISO RGD:1605350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marinesco-Sjögren syndrome PMID:10665502|PMID:12692552|PMID:16199547|PMID:16282977|PMID:16282978|PMID:17026626|PMID:17309654|PMID:17576681|PMID:18285827|PMID:19471582|PMID:20111056|PMID:21873089|PMID:22995991|PMID:23062754|PMID:23829326|PMID:24176978|PMID:24473200|PMID:24631270|PMID:24755310|PMID:25741868|PMID:26467025|PMID:26733775|PMID:28492532|PMID:31130284|PMID:31258504|PMID:32502767|PMID:32552793|PMID:33250842|PMID:9536098 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:0080600 COVID-19 ISO RGD:1605350 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1605350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome PMID:19471582|PMID:22995991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31258504|PMID:33250842 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1605350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:83 cataract ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:32581362 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:9008086 Developmental Disabilities ISO RGD:1605350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 8840237 Sil1 SIL1 nucleotide exchange factor gene DOID:9277 primary cerebellar degeneration ISO RGD:1605350 D RGD:7240710 20180130 OMIM 8840264 Mageh1 MAGE family member H1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8840264 Mageh1 MAGE family member H1 gene DOID:12849 autistic disorder ISO RGD:1349577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8840264 Mageh1 MAGE family member H1 gene DOID:630 genetic disease ISO RGD:1349577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840265 Emc7 ER membrane protein complex subunit 7 gene DOID:2717 Bloom syndrome ISO RGD:1312839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8840265 Emc7 ER membrane protein complex subunit 7 gene DOID:630 genetic disease ISO RGD:1312839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840265 Emc7 ER membrane protein complex subunit 7 gene DOID:9256 colorectal cancer ISO RGD:1312839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8840284 Prrc2c proline rich coiled-coil 2C gene DOID:1540 parathyroid carcinoma ISO RGD:1351775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8840284 Prrc2c proline rich coiled-coil 2C gene DOID:630 genetic disease ISO RGD:1351775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840284 Prrc2c proline rich coiled-coil 2C gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1351775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8840284 Prrc2c proline rich coiled-coil 2C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8840342 Sycp1 synaptonemal complex protein 1 gene DOID:0080690 RASopathy ISO RGD:1347800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8840342 Sycp1 synaptonemal complex protein 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1347800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8840342 Sycp1 synaptonemal complex protein 1 gene DOID:10941 intracranial aneurysm ISO RGD:1347800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial PMID:25741868|PMID:28492532 8840342 Sycp1 synaptonemal complex protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1347800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991579 8840342 Sycp1 synaptonemal complex protein 1 gene DOID:299 adenocarcinoma ISO RGD:1347800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14991579 8840342 Sycp1 synaptonemal complex protein 1 gene DOID:630 genetic disease ISO RGD:1347800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840378 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1354388 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8840378 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:2213 hemorrhagic disease ISO RGD:1354388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8840378 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:9002422 Thrombocytopenia, Anemia, and Myelofibrosis ISO RGD:1354388 D RGD:7240710 20190315 OMIM 8840378 Mpig6b megakaryocyte and platelet inhibitory receptor G6b gene DOID:9002422 Thrombocytopenia, Anemia, and Myelofibrosis ISO RGD:1354388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis PMID:25741868|PMID:27743390 8840430 Sphk1 sphingosine kinase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 8840430 Sphk1 sphingosine kinase 1 gene DOID:1240 leukemia ISO RGD:1346404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 8840430 Sphk1 sphingosine kinase 1 gene DOID:299 adenocarcinoma ISO RGD:620048 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:colon mucosa (rat) PMID:16319132|REF_RGD_ID:2311380 8840430 Sphk1 sphingosine kinase 1 gene DOID:3070 high grade glioma ISO RGD:620048 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell (rat) PMID:17316399|REF_RGD_ID:2311379 8840430 Sphk1 sphingosine kinase 1 gene DOID:630 genetic disease ISO RGD:1346404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840430 Sphk1 sphingosine kinase 1 gene DOID:8577 ulcerative colitis ISO RGD:1346404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24055189 8840430 Sphk1 sphingosine kinase 1 gene DOID:9000784 Fibrosis ISO RGD:1346404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19657322 8840430 Sphk1 sphingosine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346404 D RGD:9068941 20200609 RGD PMID:17265031|REF_RGD_ID:2311390 8840440 Kif25 kinesin family member 25 gene DOID:630 genetic disease ISO RGD:1345652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840460 Zap70 zeta-chain (TCR) associated protein kinase 70kDa gene DOID:0111943 immunodeficiency 48 ISO RGD:1349191 D RGD:7240710 20180130 OMIM 8840460 Zap70 zeta-chain (TCR) associated protein kinase 70kDa gene DOID:0111943 immunodeficiency 48 ISO RGD:1349191 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: Immunodeficiency 48 | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency PMID:10574909|PMID:11412303|PMID:16199547|PMID:17576681|PMID:20301777|PMID:21441961|PMID:24033266|PMID:24164480|PMID:25627829|PMID:25741868|PMID:26783323|PMID:27448562|PMID:28124082|PMID:28216435|PMID:28492532|PMID:29684201|PMID:30778343|PMID:33184721|PMID:35503492|PMID:8124727|PMID:8202712|PMID:8202713|PMID:9536098 8840460 Zap70 zeta-chain (TCR) associated protein kinase 70kDa gene DOID:0111962 combined immunodeficiency ISO RGD:1349191 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:20301777|PMID:25627829|PMID:25741868|PMID:26783323|PMID:28492532 8840460 Zap70 zeta-chain (TCR) associated protein kinase 70kDa gene DOID:612 primary immunodeficiency disease ISO RGD:1349191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17767948 8840460 Zap70 zeta-chain (TCR) associated protein kinase 70kDa gene DOID:627 severe combined immunodeficiency ISO RGD:1349191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:28492532 8840460 Zap70 zeta-chain (TCR) associated protein kinase 70kDa gene DOID:630 genetic disease ISO RGD:1349191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8840460 Zap70 zeta-chain (TCR) associated protein kinase 70kDa gene DOID:7148 rheumatoid arthritis ISO RGD:11501 D RGD:9068941 20220825 MouseDO OMIM:180300 8840460 Zap70 zeta-chain (TCR) associated protein kinase 70kDa gene DOID:9003794 T Cell Immunodeficiency Primary ISO RGD:1349191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8124727 8840460 Zap70 zeta-chain (TCR) associated protein kinase 70kDa gene DOID:9005984 Multisystem Autoimmune Disease, Infantile-Onset, 2 ISO RGD:1349191 D RGD:7240710 20190315 OMIM 8840460 Zap70 zeta-chain (TCR) associated protein kinase 70kDa gene DOID:9005984 Multisystem Autoimmune Disease, Infantile-Onset, 2 ISO RGD:1349191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune disease, multisystem, infantile-onset, 2 PMID:20301777|PMID:25627829|PMID:25741868|PMID:26783323|PMID:28492532 8840460 Zap70 zeta-chain (TCR) associated protein kinase 70kDa gene DOID:9008181 Severe Combined Immunodeficiency, Atypical ISO RGD:1349191 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, atypical PMID:20301777|PMID:25741868|PMID:27448562|PMID:28492532|PMID:8124727 8840490 Aph1b aph-1 homolog B, gamma-secretase subunit gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8840490 Aph1b aph-1 homolog B, gamma-secretase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1344589 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 8840490 Aph1b aph-1 homolog B, gamma-secretase subunit gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8840490 Aph1b aph-1 homolog B, gamma-secretase subunit gene DOID:2717 Bloom syndrome ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8840490 Aph1b aph-1 homolog B, gamma-secretase subunit gene DOID:3393 coronary artery disease ISO RGD:1344589 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.F217L (rs1047552) (human) PMID:18987747|REF_RGD_ID:13703124 8840490 Aph1b aph-1 homolog B, gamma-secretase subunit gene DOID:630 genetic disease ISO RGD:1344589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840490 Aph1b aph-1 homolog B, gamma-secretase subunit gene DOID:9003284 HIV Seropositivity susceptibility ISO RGD:1344589 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.F217L (rs1047552) (human) PMID:19774691|REF_RGD_ID:13703126 8840490 Aph1b aph-1 homolog B, gamma-secretase subunit gene DOID:9256 colorectal cancer ISO RGD:1344589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8840509 Colgalt2 collagen beta(1-O)galactosyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1602008 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8840509 Colgalt2 collagen beta(1-O)galactosyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1602008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8840509 Colgalt2 collagen beta(1-O)galactosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1602008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840509 Colgalt2 collagen beta(1-O)galactosyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8840538 Fbln1 fibulin 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1318572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8840538 Fbln1 fibulin 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1318572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8840538 Fbln1 fibulin 1 gene DOID:1059 intellectual disability ISO RGD:1318572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8840538 Fbln1 fibulin 1 gene DOID:289 endometriosis ISO RGD:1318572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8840538 Fbln1 fibulin 1 gene DOID:630 genetic disease ISO RGD:1318572 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8840538 Fbln1 fibulin 1 gene DOID:9001994 Synpolydactyly 2 ISO RGD:1318572 D RGD:7240710 20180130 OMIM 8840538 Fbln1 fibulin 1 gene DOID:9001994 Synpolydactyly 2 ISO RGD:1318572 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES PMID:25741868|PMID:28492532 8840538 Fbln1 fibulin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 8840538 Fbln1 fibulin 1 gene DOID:9004662 Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects ISO RGD:1318572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects PMID:24084572 8840562 Gpr155 G protein-coupled receptor 155 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319348 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8840562 Gpr155 G protein-coupled receptor 155 gene DOID:12849 autistic disorder ISO RGD:1319348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17519220 8840562 Gpr155 G protein-coupled receptor 155 gene DOID:630 genetic disease ISO RGD:1319348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840562 Gpr155 G protein-coupled receptor 155 gene DOID:9005369 Hepatomegaly ISO RGD:1319348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8840593 Narf nuclear prelamin A recognition factor gene DOID:630 genetic disease ISO RGD:1605690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840618 Fabp9 fatty acid binding protein 9 gene DOID:630 genetic disease ISO RGD:1343200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:0060041 autism spectrum disorder ISO RGD:730960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:1059 intellectual disability ISO RGD:730960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19546859|PMID:22138692 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:12858 Huntington's disease disease_progression ISO RGD:736778 D RGD:9068941 20200609 RGD PMID:15306259|REF_RGD_ID:13432562 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:12858 Huntington's disease treatment ISO RGD:736778 D RGD:9068941 20200609 RGD PMID:23489026|PMID:24282028|PMID:25160573|REF_RGD_ID:13432158|REF_RGD_ID:13432558|REF_RGD_ID:13432561 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:1824 status epilepticus ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634364|PMID:18774262 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:303 substance-related disorder ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15694259 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:5419 schizophrenia ISO RGD:736778 D RGD:9068941 20220825 MouseDO OMIM:181500 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:630 genetic disease ISO RGD:730960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:730960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:28492532 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20826661 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:9005968 Neuralgia ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19840219 8840625 Grm5 glutamate metabotropic receptor 5 gene DOID:9743 diabetic neuropathy ISO RGD:730960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19840219 8840638 Adck2 aarF domain containing kinase 2 gene DOID:0080690 RASopathy ISO RGD:1322312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8840638 Adck2 aarF domain containing kinase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8840638 Adck2 aarF domain containing kinase 2 gene DOID:630 genetic disease ISO RGD:1322312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840638 Adck2 aarF domain containing kinase 2 gene DOID:699 mitochondrial myopathy ISO RGD:1322313 D RGD:9068941 20220825 MouseDO OMIM:251900 8840656 Zc3hav1l zinc finger CCCH-type containing, antiviral 1 like gene DOID:0080690 RASopathy ISO RGD:1601938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8840656 Zc3hav1l zinc finger CCCH-type containing, antiviral 1 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8840656 Zc3hav1l zinc finger CCCH-type containing, antiviral 1 like gene DOID:630 genetic disease ISO RGD:1601938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840664 Dhx32 DEAH-box helicase 32 (putative) gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1323353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8840664 Dhx32 DEAH-box helicase 32 (putative) gene DOID:630 genetic disease ISO RGD:1323353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8840664 Dhx32 DEAH-box helicase 32 (putative) gene DOID:9004547 Thyroid Neoplasms ISO RGD:1323353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:32989326 8840680 Ctdspl CTD small phosphatase like gene DOID:0050451 Brugada syndrome ISO RGD:1345284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 8840680 Ctdspl CTD small phosphatase like gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345284 D RGD:9068941 20220908 RGD mRNA:decreased expression:lung (human) PMID:22491060|REF_RGD_ID:153350086 8840680 Ctdspl CTD small phosphatase like gene DOID:630 genetic disease ISO RGD:1345284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840680 Ctdspl CTD small phosphatase like gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1345284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8840693 Sh2d2a SH2 domain containing 2A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8840693 Sh2d2a SH2 domain containing 2A gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1345635 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Duncan disease PMID:25741868 8840693 Sh2d2a SH2 domain containing 2A gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1345635 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked PMID:25741868 8840693 Sh2d2a SH2 domain containing 2A gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:25741868 8840693 Sh2d2a SH2 domain containing 2A gene DOID:0080600 COVID-19 ISO RGD:1345635 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8840693 Sh2d2a SH2 domain containing 2A gene DOID:0111940 immunodeficiency 42 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8840693 Sh2d2a SH2 domain containing 2A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8840693 Sh2d2a SH2 domain containing 2A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1345635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8840693 Sh2d2a SH2 domain containing 2A gene DOID:1540 parathyroid carcinoma ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8840693 Sh2d2a SH2 domain containing 2A gene DOID:2377 multiple sclerosis ISO RGD:1345635 D RGD:9068941 20200609 RGD DNA:repeat:promoter:-341(GA)13-33 (human) PMID:11528519|REF_RGD_ID:1358573 8840693 Sh2d2a SH2 domain containing 2A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1345635 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:18554728|REF_RGD_ID:2298871 8840693 Sh2d2a SH2 domain containing 2A gene DOID:5812 MHC class II deficiency ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8840693 Sh2d2a SH2 domain containing 2A gene DOID:630 genetic disease ISO RGD:1345635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840693 Sh2d2a SH2 domain containing 2A gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345635 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:15129233|REF_RGD_ID:2298870 8840693 Sh2d2a SH2 domain containing 2A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:0050795 cone dystrophy ISO RGD:1550378 D RGD:9068941 20220825 MouseDO OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability ISO RGD:1314421 D RGD:7240710 20180130 OMIM 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability ISO RGD:1314421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability PMID:24462371|PMID:25741868|PMID:28492532|PMID:4997531 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:12270 coloboma ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:24462371 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:12704 ataxia telangiectasia ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:255 hemangioma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31351048 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31494105 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729916 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:630 genetic disease ISO RGD:1314421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29698666 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:769 neuroblastoma ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1314421 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:9000918 Disease Progression ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30703373 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20947521 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:9002801 Recurrence ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314421 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34351699 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30703373 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:9007502 Brain Neoplasms ISO RGD:1314421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314421 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:30510241|PMID:34351699 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:9008939 Breast Neoplasms ISO RGD:1314421 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:28114269|PMID:28524356 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:9256 colorectal cancer treatment ISO RGD:1314421 D RGD:9068941 20220728 RGD human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 8840724 Yap1 Yes1 associated transcriptional regulator gene DOID:9538 multiple myeloma ISO RGD:1314421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8840746 Plcz1 phospholipase C zeta 1 gene DOID:0070174 spermatogenic failure 17 ISO RGD:1347399 D RGD:7240710 20190315 OMIM 8840746 Plcz1 phospholipase C zeta 1 gene DOID:0070174 spermatogenic failure 17 ISO RGD:1347399 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 17 PMID:25741868|PMID:26721930|PMID:31463947|PMID:36593593|PMID:37004249 8840746 Plcz1 phospholipase C zeta 1 gene DOID:630 genetic disease ISO RGD:1347399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2225 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, kidney, pancreas PMID:9712737|REF_RGD_ID:2289078 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:69157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:69157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:1612 breast cancer ISO RGD:69157 D RGD:9068941 20200609 RGD protein:decreased expression:breast, nucleus PMID:16849553|REF_RGD_ID:2289068 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:2316 brain ischemia ISO RGD:2225 D RGD:9068941 20200609 RGD mRNA:increased expression:forebrain (rat) PMID:7684483|REF_RGD_ID:2289081 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:69157 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:14996721|REF_RGD_ID:2289069 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:630 genetic disease ISO RGD:69157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:69157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18393292 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:69157 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:11470758|REF_RGD_ID:2289070 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:9001341 Chloracne ISO RGD:69157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69157 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:11470758|REF_RGD_ID:2289070 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2225 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9712737|REF_RGD_ID:2289078 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:69157 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:9004922 Spinal Cord Ischemia ISO RGD:2225 D RGD:9068941 20200609 RGD PMID:14697320|REF_RGD_ID:2289074 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2225 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:12909328|REF_RGD_ID:2289075 8840768 Btg2 BTG anti-proliferation factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:731475 D RGD:9068941 20231228 RGD DNA:insertion:promoter:: (human) PMID:26727527|REF_RGD_ID:11552767 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:0060001 withdrawal disorder ISO RGD:620533 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:15976529|REF_RGD_ID:1643202 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:0060001 withdrawal disorder ISO RGD:731475 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14598306 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731475 D RGD:7240710 20180130 OMIM 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731475 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder PMID:14744863|PMID:17576681|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:28492532|PMID:28856709|PMID:29315614|PMID:29358611|PMID:31302675|PMID:31785789|PMID:32398021|PMID:32581362|PMID:34006619|PMID:34120799|PMID:35701389|PMID:9536098 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:731475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:25865495|PMID:27959697|PMID:28191889|PMID:28492532|PMID:34006619 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:1059 intellectual disability ISO RGD:731475 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:32581362 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:1826 epilepsy ISO RGD:731475 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:32581362 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:2316 brain ischemia ISO RGD:620533 D RGD:9068941 20200609 RGD PMID:15084665|REF_RGD_ID:1643209 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20132478 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:620533 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:15248296|REF_RGD_ID:1643206 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:731475 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:15248296|REF_RGD_ID:1643206 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:731476 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:15248296|REF_RGD_ID:1643206 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:731475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:3526 cerebral infarction ISO RGD:620533 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, neuron PMID:15349978|REF_RGD_ID:1643205 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:5419 schizophrenia ISO RGD:731475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:5419 schizophrenia ISO RGD:731476 D RGD:9068941 20220825 MouseDO OMIM:181500 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:630 genetic disease ISO RGD:731475 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12451126|PMID:17576681|PMID:22495306|PMID:23020937|PMID:24859339|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:28492532|PMID:29315614|PMID:30132828|PMID:9536098|PMID:9623887 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:9000641 Pain ISO RGD:731476 D RGD:9068941 20200609 RGD PMID:17918738|REF_RGD_ID:1643217 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:9004012 Nervous System Lead Poisoning, Adult ISO RGD:620533 D RGD:9068941 20200609 RGD protein:increased expression:brain, synaptosome PMID:15149801|REF_RGD_ID:1643208 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731475 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27541642|PMID:28492532 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:731475 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy | ClinVar Annotator: match by term: Myoclonus epilepsy PMID:14744863|PMID:15496410|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:27959697|PMID:28135719|PMID:28191889|PMID:28213519|PMID:28492532|PMID:28708303|PMID:28856709|PMID:29315614|PMID:29358611|PMID:29933521|PMID:29961511|PMID:30132828|PMID:30525188|PMID:31031587|PMID:31176687|PMID:31273778|PMID:31302675|PMID:31332282|PMID:31401500|PMID:31780880|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32581362|PMID:32660967|PMID:32913952|PMID:33004838|PMID:33961861|PMID:34006619|PMID:34489640|PMID:9536098 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:731475 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:14744863|PMID:15496410|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:22235131|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:27959697|PMID:28135719|PMID:28191889|PMID:28213519|PMID:28492532|PMID:28708303|PMID:28856709|PMID:29315614|PMID:29358611|PMID:29933521|PMID:29961511|PMID:30132828|PMID:30525188|PMID:31031587|PMID:31176687|PMID:31273778|PMID:31302675|PMID:31332282|PMID:31401500|PMID:31780880|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32469098|PMID:32581362|PMID:32660967|PMID:32913952|PMID:33004838|PMID:33961861|PMID:34006619|PMID:34028503|PMID:34489640|PMID:34653234|PMID:35701389|PMID:35761184|PMID:36674476|PMID:9536098 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731475 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25363768|PMID:25741868|PMID:27824329|PMID:28492532|PMID:30132828|PMID:31332282|PMID:31981491|PMID:32581362|PMID:34028503|PMID:36674476 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:731475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8840792 Slc6a1 solute carrier family 6 member 1 gene DOID:9970 obesity ISO RGD:731476 D RGD:9068941 20200609 RGD PMID:11191352|REF_RGD_ID:1643191 8840820 Pced1b PC-esterase domain containing 1B gene DOID:630 genetic disease ISO RGD:1602665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840846 Rims4 regulating synaptic membrane exocytosis 4 gene DOID:2234 focal epilepsy ISO RGD:1350639 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8840846 Rims4 regulating synaptic membrane exocytosis 4 gene DOID:630 genetic disease ISO RGD:1350639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840846 Rims4 regulating synaptic membrane exocytosis 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350639 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8840858 Jph4 junctophilin 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1315305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8840858 Jph4 junctophilin 4 gene DOID:0080600 COVID-19 ISO RGD:1315305 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8840858 Jph4 junctophilin 4 gene DOID:630 genetic disease ISO RGD:1315305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840858 Jph4 junctophilin 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1315305 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8840858 Jph4 junctophilin 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315305 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8840868 Foxi3 forkhead box I3 gene DOID:14693 Clouston syndrome ISO RGD:12293264 D RGD:9068941 20230525 OMIA Ectodermal dysplasia PMID:15771734|PMID:15958791|PMID:18787161|PMID:23413772|PMID:23441037|PMID:27994129|PMID:28710361|PMID:37191329|PMID:3998444|PMID:8437436 8840868 Foxi3 forkhead box I3 gene DOID:2907 Goldenhar syndrome ISO RGD:2302532 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Craniofacial microsomia | ClinVar Annotator: match by term: Goldenhar syndrome PMID:28492532|PMID:36260083|PMID:37041148 8840868 Foxi3 forkhead box I3 gene DOID:630 genetic disease ISO RGD:2302532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8840868 Foxi3 forkhead box I3 gene DOID:9007962 Craniofacial Microsomia 2 ISO RGD:2302532 D RGD:7240710 20230726 OMIM 8840868 Foxi3 forkhead box I3 gene DOID:9007962 Craniofacial Microsomia 2 ISO RGD:2302532 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Craniofacial microsomia 2 | ClinVar Annotator: match by term: FOXI3-related condition PMID:25741868|PMID:28492532|PMID:36260083|PMID:37041148 8840875 Rnaseh1 ribonuclease H1 gene DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:1319116 D RGD:7240710 20180130 OMIM 8840875 Rnaseh1 ribonuclease H1 gene DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:1319116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 PMID:25741868|PMID:26094573|PMID:28492532|PMID:28508084 8840875 Rnaseh1 ribonuclease H1 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1319116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 8840875 Rnaseh1 ribonuclease H1 gene DOID:630 genetic disease ISO RGD:1319116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0050572 cone-rod dystrophy ISO RGD:1345435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:1345435 D RGD:7240710 20180130 OMIM 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:1345435 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease PMID:10332042|PMID:10749980|PMID:10924275|PMID:11339651|PMID:11589014|PMID:12189165|PMID:14699076|PMID:16199547|PMID:16291725|PMID:17475770|PMID:17576681|PMID:17868323|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19135632|PMID:19489875|PMID:20187884|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:22748208|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23847139|PMID:24154662|PMID:24271013|PMID:24625443|PMID:24827497|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26633542|PMID:26766544|PMID:27104957|PMID:27290639|PMID:27486012|PMID:27533158|PMID:27843123|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:28792770|PMID:29049447|PMID:29053603|PMID:29343940|PMID:29753273|PMID:30446867|PMID:30769084|PMID:31568712|PMID:31736247|PMID:32037395|PMID:32154056|PMID:32441891|PMID:32581362|PMID:32685355|PMID:33497524|PMID:33507216|PMID:33921607|PMID:34906470|PMID:35929194|PMID:36139381|PMID:36909829|PMID:7553855|PMID:7887420|PMID:9004140|PMID:9311735|PMID:9392580|PMID:9450775|PMID:9536098|PMID:9618513|PMID:9932957 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:0111446 progressive myoclonus epilepsy 3 ISO RGD:1345435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 PMID:25741868|PMID:28492532 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:10584 retinitis pigmentosa ISO RGD:1345435 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10332042|PMID:17576681|PMID:17947292|PMID:19132115|PMID:21990111|PMID:22013180|PMID:24154662|PMID:25741868|PMID:26766544|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:31568712|PMID:32581362|PMID:32685355|PMID:33507216|PMID:34906470|PMID:7553855|PMID:9311735|PMID:9536098 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:10584 retinitis pigmentosa ISO RGD:1345435 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10332042|PMID:17576681|PMID:17947292|PMID:19132115|PMID:20301601|PMID:21990111|PMID:22013180|PMID:24154662|PMID:25741868|PMID:26766544|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:31568712|PMID:32581362|PMID:32685355|PMID:33507216|PMID:34906470|PMID:36909829|PMID:7553855|PMID:9004140|PMID:9311735|PMID:9392580|PMID:9536098 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:1059 intellectual disability ISO RGD:1345435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:33507216 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345435 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10332042|PMID:10749980|PMID:10924275|PMID:11339651|PMID:11589014|PMID:12189165|PMID:15818814|PMID:16199547|PMID:16291725|PMID:17475770|PMID:17576681|PMID:17868323|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19135632|PMID:19489875|PMID:20187884|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:22748208|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23847139|PMID:24154662|PMID:24271013|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26633542|PMID:26766544|PMID:27104957|PMID:27290639|PMID:27486012|PMID:27533158|PMID:27843123|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:28792770|PMID:29049447|PMID:29053603|PMID:29343940|PMID:29753273|PMID:30446867|PMID:30769084|PMID:31568712|PMID:31736247|PMID:32037395|PMID:32154056|PMID:32441891|PMID:32581362|PMID:32631363|PMID:32685355|PMID:33497524|PMID:33507216|PMID:33921607|PMID:34906470|PMID:35929194|PMID:36139381|PMID:36909829|PMID:7553855|PMID:9311735|PMID:9450775|PMID:9536098|PMID:9618513|PMID:9932957 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:1826 epilepsy ISO RGD:1345435 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532|PMID:32037395 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:5419 schizophrenia ISO RGD:1345435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:630 genetic disease ISO RGD:1345435 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10332042|PMID:16199547|PMID:16291725|PMID:17576681|PMID:18414213|PMID:19132115|PMID:19135632|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:23142271|PMID:24154662|PMID:24271013|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27104957|PMID:27290639|PMID:27486012|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676|PMID:29753273|PMID:30446867|PMID:31568712|PMID:32037395|PMID:33497524|PMID:33507216|PMID:9311735|PMID:9450775|PMID:9536098 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:8501 fundus dystrophy ISO RGD:1345435 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10332042|PMID:16291725|PMID:18414213|PMID:19132115|PMID:19135632|PMID:21499717|PMID:21990111|PMID:22545070|PMID:24154662|PMID:25741868|PMID:26766544|PMID:27486012|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:32581362|PMID:32685355|PMID:33507216|PMID:34906470|PMID:36909829|PMID:9311735|PMID:9450775 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive PMID:25741868|PMID:26467025|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive PMID:17576681|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676|PMID:9536098 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:9000217 Stomach Neoplasms ISO RGD:1345435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:9000343 Vision Disorders ISO RGD:1345435 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:24804307 8840889 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin gene DOID:9000918 Disease Progression ISO RGD:1345435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8840915 Ldah lipid droplet associated hydrolase gene DOID:630 genetic disease ISO RGD:1605056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840915 Ldah lipid droplet associated hydrolase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20676098 8840939 Gcg glucagon gene DOID:0060180 colitis ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22323126 8840939 Gcg glucagon gene DOID:10652 Alzheimer's disease ISO RGD:68970 D RGD:9068941 20200609 RGD PMID:23035082|REF_RGD_ID:10402366 8840939 Gcg glucagon gene DOID:10763 hypertension ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8840939 Gcg glucagon gene DOID:114 heart disease ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3277781 8840939 Gcg glucagon gene DOID:1168 familial hyperlipidemia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:69995 8840939 Gcg glucagon gene DOID:11716 prediabetes syndrome ISO RGD:68970 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19654434|REF_RGD_ID:2313224 8840939 Gcg glucagon gene DOID:12849 autistic disorder ISO RGD:68970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 8840939 Gcg glucagon gene DOID:178 vascular disease ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10464538 8840939 Gcg glucagon gene DOID:2018 hyperinsulinism ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3019152 8840939 Gcg glucagon gene DOID:4195 hyperglycemia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18669601|PMID:3019152 8840939 Gcg glucagon gene DOID:6000 congestive heart failure ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7608802 8840939 Gcg glucagon gene DOID:630 genetic disease ISO RGD:68970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840939 Gcg glucagon gene DOID:76 stomach disease ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17891687 8840939 Gcg glucagon gene DOID:9000046 Poisoning ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7629900 8840939 Gcg glucagon gene DOID:9001109 Anorexia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21824258|PMID:28633506 8840939 Gcg glucagon gene DOID:9001581 Constipation ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12107204 8840939 Gcg glucagon gene DOID:9001661 Taste Disorders ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21824258 8840939 Gcg glucagon gene DOID:9002362 Hyperkinesis ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9798264 8840939 Gcg glucagon gene DOID:9002395 Hypothermia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10464538 8840939 Gcg glucagon gene DOID:9002554 Tachycardia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7629900 8840939 Gcg glucagon gene DOID:9002928 Colonic Neoplasms ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22323126 8840939 Gcg glucagon gene DOID:9003805 Catalepsy ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9798264 8840939 Gcg glucagon gene DOID:9005100 Aberrant Crypt Foci ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22323126 8840939 Gcg glucagon gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2668 D RGD:9068941 20200609 RGD PMID:18996945|REF_RGD_ID:10402370 8840939 Gcg glucagon gene DOID:9006024 Hypotension ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3277781|PMID:8517581 8840939 Gcg glucagon gene DOID:9006462 Coma ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10464538 8840939 Gcg glucagon gene DOID:9006638 Sinus Tachycardia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7359351 8840939 Gcg glucagon gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:10626 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8840939 Gcg glucagon gene DOID:9006743 Spasm ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7192515 8840939 Gcg glucagon gene DOID:9007001 Bradycardia ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3277781|PMID:3736332|PMID:6542785|PMID:7787496|PMID:9674488 8840939 Gcg glucagon gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:68970 D RGD:9068941 20200609 RGD PMID:24125539|REF_RGD_ID:10402369 8840939 Gcg glucagon gene DOID:9352 type 2 diabetes mellitus ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23466488 8840939 Gcg glucagon gene DOID:9970 obesity ISO RGD:68970 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20065960 8840955 Plxdc1 plexin domain containing 1 gene DOID:630 genetic disease ISO RGD:1352937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840955 Plxdc1 plexin domain containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8840972 Zic5 Zic family member 5 gene DOID:0080074 neural tube defect ISO RGD:1320899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15136147 8840972 Zic5 Zic family member 5 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1320899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 8840972 Zic5 Zic family member 5 gene DOID:14701 propionic acidemia ISO RGD:1320899 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8840972 Zic5 Zic family member 5 gene DOID:4621 holoprosencephaly ISO RGD:1320899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 8840972 Zic5 Zic family member 5 gene DOID:630 genetic disease ISO RGD:1320899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840972 Zic5 Zic family member 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1320899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8840972 Zic5 Zic family member 5 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1320899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8840972 Zic5 Zic family member 5 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15136147 8840983 Tmem87a transmembrane protein 87A gene DOID:2717 Bloom syndrome ISO RGD:1603672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8840983 Tmem87a transmembrane protein 87A gene DOID:630 genetic disease ISO RGD:1603672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8840983 Tmem87a transmembrane protein 87A gene DOID:9256 colorectal cancer ISO RGD:1603672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8841017 Uba7 ubiquitin like modifier activating enzyme 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8841017 Uba7 ubiquitin like modifier activating enzyme 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8841017 Uba7 ubiquitin like modifier activating enzyme 7 gene DOID:1059 intellectual disability ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8841017 Uba7 ubiquitin like modifier activating enzyme 7 gene DOID:1749 squamous cell carcinoma ISO RGD:1318027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19014429 8841017 Uba7 ubiquitin like modifier activating enzyme 7 gene DOID:630 genetic disease ISO RGD:1318027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841017 Uba7 ubiquitin like modifier activating enzyme 7 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1318027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8841048 Dgat2l6 diacylglycerol O-acyltransferase 2 like 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8841048 Dgat2l6 diacylglycerol O-acyltransferase 2 like 6 gene DOID:10283 prostate cancer ISO RGD:1602812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8841048 Dgat2l6 diacylglycerol O-acyltransferase 2 like 6 gene DOID:12849 autistic disorder ISO RGD:1602812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8841048 Dgat2l6 diacylglycerol O-acyltransferase 2 like 6 gene DOID:630 genetic disease ISO RGD:1602812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841062 Dip2a disco interacting protein 2 homolog A gene DOID:0060041 autism spectrum disorder ISO RGD:1319135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8841062 Dip2a disco interacting protein 2 homolog A gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1319135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8841062 Dip2a disco interacting protein 2 homolog A gene DOID:12849 autistic disorder ISO RGD:1319135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8841062 Dip2a disco interacting protein 2 homolog A gene DOID:2843 long QT syndrome ISO RGD:1319135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8841062 Dip2a disco interacting protein 2 homolog A gene DOID:630 genetic disease ISO RGD:1319135 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8841114 Dus3l dihydrouridine synthase 3 like gene DOID:630 genetic disease ISO RGD:1604330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841146 Ier5 immediate early response 5 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8841146 Ier5 immediate early response 5 gene DOID:1540 parathyroid carcinoma ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8841146 Ier5 immediate early response 5 gene DOID:630 genetic disease ISO RGD:737469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841146 Ier5 immediate early response 5 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8841146 Ier5 immediate early response 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:1318463 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:19802898|PMID:20923864|PMID:21979946|PMID:23072324|PMID:23512077|PMID:25694510|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30152102 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050771 pheochromocytoma ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30694796|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34309460|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050771 pheochromocytoma ISO RGD:1318463 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30694796|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35460558|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050771 pheochromocytoma ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30694796|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35441217|PMID:35460558 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050771 pheochromocytoma ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:35546442|PMID:35870552|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32741965|PMID:32863293|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34439168|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0050773 paraganglioma ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25405498|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35870552|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318463 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0060537 mitochondrial complex II deficiency ISO RGD:1318463 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency PMID:17634472|PMID:22972948|PMID:25741868|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27604842|PMID:28492532|PMID:34052969 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:11404820|PMID:14985401|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17376234|PMID:17639058|PMID:17987308|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19454582|PMID:19802898|PMID:21979946|PMID:22517554|PMID:22703879|PMID:22995128|PMID:22995991|PMID:23072324|PMID:23666964|PMID:24033266|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:27604842|PMID:28492532|PMID:30155846|PMID:30877234|PMID:34490615 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1318463 D RGD:7240710 20180130 OMIM 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1318463 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:11404820|PMID:11897817|PMID:12362046|PMID:12364472|PMID:12618761|PMID:14500403|PMID:14715873|PMID:14985401|PMID:15328326|PMID:15383933|PMID:16199547|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17200167|PMID:17298551|PMID:17376234|PMID:17487275|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19368708|PMID:19399650|PMID:19411806|PMID:19454582|PMID:19576851|PMID:19694205|PMID:19802898|PMID:19825962|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20540712|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21348866|PMID:21565294|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22270996|PMID:22517554|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22995991|PMID:23072324|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23660872|PMID:23666964|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24466223|PMID:24509376|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24939699|PMID:25047027|PMID:25326637|PMID:25333069|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25972245|PMID:26092435|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26719882|PMID:27011036|PMID:27171833|PMID:27539324|PMID:27573198|PMID:27604842|PMID:28070496|PMID:28324028|PMID:28374168|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30152102|PMID:30201732|PMID:30877234|PMID:31365623|PMID:31492822|PMID:31666924|PMID:32741965|PMID:32963463|PMID:33300499|PMID:33362715|PMID:34439168|PMID:34466344|PMID:34906457|PMID:35441217|PMID:9509062 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:14175 von Hippel-Lindau disease ISO RGD:1318463 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:11404820|PMID:12618761|PMID:163114641|PMID:16314641|PMID:16317055|PMID:18419787|PMID:19454582|PMID:19802898|PMID:21348866|PMID:21909610|PMID:21934479|PMID:23083876|PMID:24033266|PMID:24466223|PMID:25326637|PMID:25741868|PMID:25972245|PMID:26467025|PMID:27171833|PMID:27573198|PMID:28324028|PMID:28374168|PMID:28492532|PMID:29386252|PMID:9509062 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:1612 breast cancer ISO RGD:1318463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:14985401|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17639058|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19802898|PMID:21979946|PMID:22703879|PMID:22995991|PMID:23666964|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:28492532 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:2394 ovarian cancer ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23780556|PMID:25741868|PMID:28492532 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:4450 renal cell carcinoma ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:630 genetic disease ISO RGD:1318463 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14685938|PMID:15987702|PMID:17634472|PMID:28492532|PMID:30087776 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:6457 Cowden syndrome ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome PMID:11404820|PMID:14985401|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17376234|PMID:17639058|PMID:17987308|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19454582|PMID:19802898|PMID:21979946|PMID:22517554|PMID:22703879|PMID:22995128|PMID:22995991|PMID:23072324|PMID:23660872|PMID:23666964|PMID:24033266|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:26269449|PMID:26729832|PMID:27604842|PMID:28229225|PMID:28492532|PMID:30155846|PMID:30877234|PMID:34309460|PMID:34490615|PMID:34906457 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:6741 bilateral breast cancer ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:17102082|PMID:19351833|PMID:20208144|PMID:21520333|PMID:23175444|PMID:25741868|PMID:26102504|PMID:26269449|PMID:28492532|PMID:31216007|PMID:33558524|PMID:34906457 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1318463 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ataxia telangiectasia variant V1 PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:25371406|PMID:25677497|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9002162 Carotid Body Tumor ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carotid body tumor PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9002265 Kidney Neoplasms ISO RGD:1318463 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Renal neoplasm PMID:19261679|PMID:22241717|PMID:25720320|PMID:25741868|PMID:28179334|PMID:28492532|PMID:30050099 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003055 Mitochondrial Complex II Deficiency Nuclear Type 1 ISO RGD:1318463 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1 PMID:17634472|PMID:22972948|PMID:25741868|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27604842|PMID:28492532|PMID:34052969 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25677497|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32124427|PMID:32741965|PMID:32863293|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34439168|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34377882|PMID:34439168|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35460558|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9003626 Paragangliomas 3 ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35870552|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9004224 Mitochondrial Complex II Deficiency Nuclear Type 4 ISO RGD:1318463 D RGD:7240710 20210324 OMIM 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9004224 Mitochondrial Complex II Deficiency Nuclear Type 4 ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 PMID:11897817|PMID:14500403|PMID:16314641|PMID:16912137|PMID:17200167|PMID:17634472|PMID:17652212|PMID:17848412|PMID:18382370|PMID:18551016|PMID:18678321|PMID:18728283|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19368708|PMID:19454582|PMID:19576851|PMID:20208144|PMID:20592014|PMID:20614293|PMID:22703879|PMID:22835832|PMID:22972948|PMID:23083876|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24509376|PMID:24728327|PMID:24939699|PMID:25637381|PMID:25695889|PMID:25741868|PMID:26259135|PMID:26332594|PMID:26467025|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27539324|PMID:27604842|PMID:28374168|PMID:28492532|PMID:30050099|PMID:30877234|PMID:31365623|PMID:31666924|PMID:32124427|PMID:32741965|PMID:34052969|PMID:34466344|PMID:34490615|PMID:34906457|PMID:36200007 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35870552|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32460727|PMID:32462735|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35060925|PMID:35441217|PMID:35546442|PMID:35870552|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1318463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25677497|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34309460|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:34906457|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:32971818|PMID:33300499|PMID:33362715|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35060925|PMID:35171114|PMID:36200007|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34466344|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35870552|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9007167 Carney Triad ISO RGD:1318463 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:25371406|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9008037 Paragangliomas 4 ISO RGD:1318463 D RGD:7240710 20180130 OMIM 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9008037 Paragangliomas 4 ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 | ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25827221|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34377882 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9008037 Paragangliomas 4 ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 | ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35870552|PMID:36200007|PMID:37529773|PMID:490809|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:7240710 20180130 OMIM 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:30487145|PMID:30549360|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35060925|PMID:35171114|PMID:36200007|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:30487145|PMID:30549360|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35460558|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763152|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20307669|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24859990|PMID:24939699|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27896548|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29292578|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318463 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35870552|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318464 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8841157 Sdhb succinate dehydrogenase complex iron sulfur subunit B gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:1308598 D RGD:9068941 20230831 RGD associated with obesity PMID:35257523|REF_RGD_ID:401794445 8841178 Spata32 spermatogenesis associated 32 gene DOID:630 genetic disease ISO RGD:1603588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841195 Lypd1 LY6/PLAUR domain containing 1 gene DOID:630 genetic disease ISO RGD:1349683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841203 Gp5 glycoprotein V platelet gene DOID:630 genetic disease ISO RGD:736629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841209 Ctxn3 cortexin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8841209 Ctxn3 cortexin 3 gene DOID:630 genetic disease ISO RGD:1604412 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841209 Ctxn3 cortexin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8841209 Ctxn3 cortexin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8841218 Carf calcium responsive transcription factor gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1315654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8841218 Carf calcium responsive transcription factor gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1315654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8841218 Carf calcium responsive transcription factor gene DOID:14557 primary pulmonary hypertension ISO RGD:1315654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8841218 Carf calcium responsive transcription factor gene DOID:3393 coronary artery disease ISO RGD:1315654 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8841218 Carf calcium responsive transcription factor gene DOID:630 genetic disease ISO RGD:1315654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841218 Carf calcium responsive transcription factor gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8841218 Carf calcium responsive transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8841218 Carf calcium responsive transcription factor gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1315654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8841218 Carf calcium responsive transcription factor gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1315654 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8841268 Svopl SVOP like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8841268 Svopl SVOP like gene DOID:630 genetic disease ISO RGD:1603906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841268 Svopl SVOP like gene DOID:9008386 Hydrops Fetalis ISO RGD:1603906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 8841304 Enc1 ectodermal-neural cortex 1 gene DOID:630 genetic disease ISO RGD:1352868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841304 Enc1 ectodermal-neural cortex 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8841304 Enc1 ectodermal-neural cortex 1 gene DOID:9003926 Sandhoff Disease, Infantile Type ISO RGD:1352868 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Sandhoff disease, infantile type PMID:7633435 8841304 Enc1 ectodermal-neural cortex 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8841311 Fam170a family with sequence similarity 170 member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602273 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8841311 Fam170a family with sequence similarity 170 member A gene DOID:630 genetic disease ISO RGD:1602273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841311 Fam170a family with sequence similarity 170 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8841311 Fam170a family with sequence similarity 170 member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602273 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8841331 Crygs crystallin gamma S gene DOID:0060575 3MC syndrome 1 ISO RGD:1320030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 8841331 Crygs crystallin gamma S gene DOID:0110240 cataract 20 multiple types ISO RGD:1320030 D RGD:7240710 20180130 OMIM 8841331 Crygs crystallin gamma S gene DOID:0110240 cataract 20 multiple types ISO RGD:1320030 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cataract 20 multiple types PMID:16141006|PMID:17576681|PMID:18587492|PMID:19262743|PMID:25741868|PMID:28166811|PMID:28450710|PMID:28492532|PMID:29964096|PMID:9536098 8841331 Crygs crystallin gamma S gene DOID:10584 retinitis pigmentosa ISO RGD:1320030 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16141006|PMID:25741868 8841331 Crygs crystallin gamma S gene DOID:630 genetic disease ISO RGD:1320030 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 8841331 Crygs crystallin gamma S gene DOID:83 cataract ISO RGD:1320030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141006 8841362 Vac14 VAC14 component of PIKFYVE complex gene DOID:0060589 Yunis-Varon syndrome ISO RGD:1347283 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Yunis-Varon syndrome PMID:17956977|PMID:28492532|PMID:28635952 8841362 Vac14 VAC14 component of PIKFYVE complex gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8841362 Vac14 VAC14 component of PIKFYVE complex gene DOID:1289 neurodegenerative disease ISO RGD:1347283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder 8841362 Vac14 VAC14 component of PIKFYVE complex gene DOID:2661 myoepithelioma ISO RGD:1347283 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8841362 Vac14 VAC14 component of PIKFYVE complex gene DOID:630 genetic disease ISO RGD:1347283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27292112|PMID:28492532|PMID:9536098 8841362 Vac14 VAC14 component of PIKFYVE complex gene DOID:9000686 Striatonigral Degeneration, Childhood-Onset ISO RGD:1347283 D RGD:7240710 20190315 OMIM 8841362 Vac14 VAC14 component of PIKFYVE complex gene DOID:9000686 Striatonigral Degeneration, Childhood-Onset ISO RGD:1347283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Striatonigral degeneration, childhood-onset PMID:25741868|PMID:27292112|PMID:28492532 8841398 Dusp23 dual specificity phosphatase 23 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8841398 Dusp23 dual specificity phosphatase 23 gene DOID:1540 parathyroid carcinoma ISO RGD:1319412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8841398 Dusp23 dual specificity phosphatase 23 gene DOID:630 genetic disease ISO RGD:1319412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841398 Dusp23 dual specificity phosphatase 23 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8841404 Tmem235 transmembrane protein 235 gene DOID:630 genetic disease ISO RGD:4892151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841411 Deptor DEP domain containing MTOR interacting protein gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1344261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8841411 Deptor DEP domain containing MTOR interacting protein gene DOID:630 genetic disease ISO RGD:1344261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841433 Nfyb nuclear transcription factor Y subunit beta gene DOID:630 genetic disease ISO RGD:1352074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841448 Ptgfr prostaglandin F receptor gene DOID:2661 myoepithelioma ISO RGD:737369 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8841448 Ptgfr prostaglandin F receptor gene DOID:289 endometriosis ISO RGD:737369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446850 8841448 Ptgfr prostaglandin F receptor gene DOID:630 genetic disease ISO RGD:737369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841448 Ptgfr prostaglandin F receptor gene DOID:9005700 Airway Obstruction ISO RGD:737369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1219628 8841458 Ccdc179 coiled-coil domain containing 179 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:7205404 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868 8841458 Ccdc179 coiled-coil domain containing 179 gene DOID:1059 intellectual disability ISO RGD:7205404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8841458 Ccdc179 coiled-coil domain containing 179 gene DOID:630 genetic disease ISO RGD:7205404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841466 Tm4sf19 transmembrane 4 L six family member 19 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1605592 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8841466 Tm4sf19 transmembrane 4 L six family member 19 gene DOID:12849 autistic disorder ISO RGD:1605592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8841466 Tm4sf19 transmembrane 4 L six family member 19 gene DOID:5419 schizophrenia ISO RGD:1605592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8841466 Tm4sf19 transmembrane 4 L six family member 19 gene DOID:630 genetic disease ISO RGD:1605592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841477 Gjb3 gap junction protein beta 3 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9843210 8841477 Gjb3 gap junction protein beta 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:1347813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:25741868|PMID:28492532 8841477 Gjb3 gap junction protein beta 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1347813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10587579 8841477 Gjb3 gap junction protein beta 3 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1347813 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs9118) C>G (human) PMID:27354594|REF_RGD_ID:152177496 8841477 Gjb3 gap junction protein beta 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8841477 Gjb3 gap junction protein beta 3 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532 8841477 Gjb3 gap junction protein beta 3 gene DOID:0110559 autosomal dominant nonsyndromic deafness 2B ISO RGD:1347813 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 2b PMID:16077902|PMID:19050930|PMID:21204020|PMID:23638949|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29106878|PMID:31564438|PMID:32645618|PMID:9843210 8841477 Gjb3 gap junction protein beta 3 gene DOID:0111195 erythrokeratodermia variabilis et progressiva 1 ISO RGD:1347813 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 PMID:10587579|PMID:10594760|PMID:10798362|PMID:10888284|PMID:11175305|PMID:12019212|PMID:12165562|PMID:12648223|PMID:12702148|PMID:15131355|PMID:17567887|PMID:19050930|PMID:19755382|PMID:20981092|PMID:22617145|PMID:24033266|PMID:24498627|PMID:25262649|PMID:25741868|PMID:26467025|PMID:27068579|PMID:27884173|PMID:28492532|PMID:35677558|PMID:9843209|PMID:9843210 8841477 Gjb3 gap junction protein beta 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1347813 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy PMID:11309368|PMID:12165562|PMID:15276679|PMID:19050930|PMID:19197336|PMID:19755382|PMID:21204020|PMID:22681493|PMID:24913888|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29044474|PMID:35580552 8841477 Gjb3 gap junction protein beta 3 gene DOID:37 skin disease ISO RGD:1347813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372802 8841477 Gjb3 gap junction protein beta 3 gene DOID:3891 placental insufficiency ISO RGD:735535 D RGD:9068941 20200609 RGD PMID:11237463|REF_RGD_ID:12436730 8841477 Gjb3 gap junction protein beta 3 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1347813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16297190 8841477 Gjb3 gap junction protein beta 3 gene DOID:574 peripheral nervous system disease ISO RGD:1347813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11309368 8841477 Gjb3 gap junction protein beta 3 gene DOID:630 genetic disease ISO RGD:1347813 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:35677558 8841477 Gjb3 gap junction protein beta 3 gene DOID:9002062 Erythrokeratodermia Variabilis, Autosomal Recessive ISO RGD:1347813 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.L34P (101T>C) (human) PMID:12019212|REF_RGD_ID:12050155 8841477 Gjb3 gap junction protein beta 3 gene DOID:9002062 Erythrokeratodermia Variabilis, Autosomal Recessive ISO RGD:1347813 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.V30I (c.G88A) (human) PMID:21564177|REF_RGD_ID:12436733 8841477 Gjb3 gap junction protein beta 3 gene DOID:9004538 Hearing Loss ISO RGD:1347813 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11309368|PMID:12165562|PMID:15276679|PMID:19050930|PMID:19197336|PMID:19755382|PMID:21204020|PMID:22681493|PMID:24913888|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29044474|PMID:35580552 8841477 Gjb3 gap junction protein beta 3 gene DOID:9005662 Keratoderma Palmoplantaris Transgrediens ISO RGD:1347813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9843210 8841477 Gjb3 gap junction protein beta 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1347813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 8841477 Gjb3 gap junction protein beta 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss no_association ISO RGD:1347813 D RGD:9068941 20200609 RGD DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human) PMID:15276679|REF_RGD_ID:12050154 8841477 Gjb3 gap junction protein beta 3 gene DOID:9008681 Deafness ISO RGD:1347813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9843210 8841500 Zc3h15 zinc finger CCCH-type containing 15 gene DOID:630 genetic disease ISO RGD:1601751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841500 Zc3h15 zinc finger CCCH-type containing 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8841514 Tmtc1 transmembrane O-mannosyltransferase targeting cadherins 1 gene DOID:0080600 COVID-19 ISO RGD:1605326 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8841514 Tmtc1 transmembrane O-mannosyltransferase targeting cadherins 1 gene DOID:630 genetic disease ISO RGD:1605326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841564 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:0050568 spondylocostal dysostosis ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis PMID:25741868 8841564 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8841564 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1606451 D RGD:7240710 20180130 OMIM 8841564 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:15122512|PMID:18485326|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9242490 8841564 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8841564 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:1606451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8841564 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1606451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8841564 Mesp2 mesoderm posterior bHLH transcription factor 2 gene DOID:9256 colorectal cancer ISO RGD:1606451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8841570 Acer1 alkaline ceramidase 1 gene DOID:630 genetic disease ISO RGD:1344470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841591 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606809 D RGD:7240710 20180130 OMIM 8841591 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:11897284|PMID:12016260|PMID:12464675|PMID:12535754|PMID:12788851|PMID:12958143|PMID:14717060|PMID:15485476|PMID:15599766|PMID:16199547|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:24448499|PMID:25647241|PMID:25670367|PMID:25741868|PMID:25911074|PMID:26723464|PMID:27247956|PMID:28353356|PMID:28492532|PMID:28958330|PMID:28964736|PMID:28965616|PMID:29153781|PMID:29245109|PMID:29396260|PMID:30318064|PMID:31589614|PMID:32041611|PMID:32636080|PMID:32770674|PMID:32878475|PMID:33111339|PMID:33116287|PMID:34037665|PMID:34389451|PMID:34756585|PMID:35047021|PMID:4351242|PMID:7628519|PMID:9536098 8841591 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal recessive | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:11897284|PMID:12016260|PMID:12464675|PMID:12535754|PMID:12788851|PMID:12958143|PMID:14717060|PMID:15485476|PMID:15599766|PMID:16199547|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:24448499|PMID:25647241|PMID:25670367|PMID:25741868|PMID:25911074|PMID:26723464|PMID:27247956|PMID:28353356|PMID:28492532|PMID:28958330|PMID:28964736|PMID:28965616|PMID:29153781|PMID:29245109|PMID:29396260|PMID:30318064|PMID:31589614|PMID:32041611|PMID:32636080|PMID:32770674|PMID:32878475|PMID:33111339|PMID:33116287|PMID:33994332|PMID:34037665|PMID:34389451|PMID:34756585|PMID:35047021|PMID:4351242|PMID:7628519|PMID:9536098 8841591 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1606809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8841591 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1606809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:21131290|PMID:21670436|PMID:28492532 8841591 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:11326085|PMID:12016260|PMID:12464675|PMID:12788851|PMID:12958143|PMID:15485476|PMID:16199547|PMID:17576681|PMID:20124734|PMID:21872251|PMID:22157599|PMID:23510778|PMID:24033266|PMID:25647241|PMID:25741868|PMID:25911074|PMID:27247956|PMID:28353356|PMID:28492532|PMID:28965616|PMID:29245109|PMID:30318064|PMID:32041611|PMID:32770674|PMID:33116287|PMID:34037665|PMID:34389451|PMID:4351242|PMID:9536098 8841591 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:3145 hyperlipoproteinemia type III ISO RGD:1606809 D RGD:9068941 20240307 CTD CTD Direct Evidence: marker/mechanism 8841591 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1606809 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32041611 8841591 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1606809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:11326085|PMID:12464675|PMID:16199547|PMID:25741868|PMID:28492532 8841591 Ldlrap1 low density lipoprotein receptor adaptor protein 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1606809 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:25741868|PMID:28492532 8841607 Ntmt1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8841607 Ntmt1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841629 Eif4e eukaryotic translation initiation factor 4E gene DOID:0050746 mantle cell lymphoma ISO RGD:732833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17148679 8841629 Eif4e eukaryotic translation initiation factor 4E gene DOID:12849 autistic disorder ISO RGD:732833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 19 PMID:19556253 8841629 Eif4e eukaryotic translation initiation factor 4E gene DOID:12849 autistic disorder susceptibility ISO RGD:732833 D RGD:7240710 20190502 OMIM 8841629 Eif4e eukaryotic translation initiation factor 4E gene DOID:630 genetic disease ISO RGD:732833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841629 Eif4e eukaryotic translation initiation factor 4E gene DOID:8725 vascular dementia ISO RGD:69647 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:23053837|REF_RGD_ID:10401142 8841629 Eif4e eukaryotic translation initiation factor 4E gene DOID:9004484 Sepsis ISO RGD:69647 D RGD:9068941 20200609 RGD PMID:17709445|REF_RGD_ID:10401144 8841629 Eif4e eukaryotic translation initiation factor 4E gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 8841629 Eif4e eukaryotic translation initiation factor 4E gene DOID:9007102 Myocardial Ischemia ISO RGD:69647 D RGD:9068941 20200609 RGD PMID:16439989|REF_RGD_ID:10401145 8841640 LOC102021703 IQ domain-containing protein F1 gene DOID:630 genetic disease ISO RGD:1348129 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841646 Rab5if RAB5 interacting factor gene DOID:0060249 scoliosis ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:24194475|PMID:35614220 8841646 Rab5if RAB5 interacting factor gene DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome ISO RGD:1317125 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome PMID:24194475|PMID:35614220 8841646 Rab5if RAB5 interacting factor gene DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 ISO RGD:1317125 D RGD:7240710 20220810 OMIM 8841646 Rab5if RAB5 interacting factor gene DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 ISO RGD:1317125 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 PMID:24194475|PMID:35614220 8841646 Rab5if RAB5 interacting factor gene DOID:1059 intellectual disability ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:24194475|PMID:35614220 8841646 Rab5if RAB5 interacting factor gene DOID:2234 focal epilepsy ISO RGD:1317125 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8841646 Rab5if RAB5 interacting factor gene DOID:9003133 Hypertelorism ISO RGD:1317125 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:24194475|PMID:35614220 8841646 Rab5if RAB5 interacting factor gene DOID:9003816 Macrocephaly ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:24194475|PMID:35614220 8841646 Rab5if RAB5 interacting factor gene DOID:9005616 Micrognathism ISO RGD:1317125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:24194475|PMID:35614220 8841659 R3hdm2 R3H domain containing 2 gene DOID:630 genetic disease ISO RGD:1605089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841659 R3hdm2 R3H domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1605089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8841659 R3hdm2 R3H domain containing 2 gene DOID:6846 familial melanoma ISO RGD:1605089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8841659 R3hdm2 R3H domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8841728 Ccl15 C-C motif chemokine ligand 15 gene DOID:0060496 respiratory allergy ISO RGD:1553178 D RGD:9068941 20210625 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 8841728 Ccl15 C-C motif chemokine ligand 15 gene DOID:182 calcinosis ISO RGD:1553178 D RGD:9068941 20210625 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8841728 Ccl15 C-C motif chemokine ligand 15 gene DOID:4079 heart valve disease ISO RGD:1553178 D RGD:9068941 20210625 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8841728 Ccl15 C-C motif chemokine ligand 15 gene DOID:630 genetic disease ISO RGD:1321539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841728 Ccl15 C-C motif chemokine ligand 15 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1553178 D RGD:9068941 20210625 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8841742 Rgs14 regulator of G protein signaling 14 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8841742 Rgs14 regulator of G protein signaling 14 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8841742 Rgs14 regulator of G protein signaling 14 gene DOID:14748 Sotos syndrome ISO RGD:733515 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8841742 Rgs14 regulator of G protein signaling 14 gene DOID:585 nephrolithiasis ISO RGD:733515 D RGD:9068941 20200609 RGD DNA:SNP: :rs11746443 (human) PMID:22396660|REF_RGD_ID:7242927 8841742 Rgs14 regulator of G protein signaling 14 gene DOID:630 genetic disease ISO RGD:733515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841742 Rgs14 regulator of G protein signaling 14 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8841742 Rgs14 regulator of G protein signaling 14 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:733515 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8841763 Rnf4 ring finger protein 4 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:737478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8841763 Rnf4 ring finger protein 4 gene DOID:1856 cherubism ISO RGD:737478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8841763 Rnf4 ring finger protein 4 gene DOID:1932 Angelman syndrome ISO RGD:737478 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:15014980|REF_RGD_ID:9831454 8841763 Rnf4 ring finger protein 4 gene DOID:630 genetic disease ISO RGD:737478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841763 Rnf4 ring finger protein 4 gene DOID:9004207 Testicular Neoplasms ISO RGD:737478 D RGD:9068941 20200609 RGD mRNA:decreased expression:testes (human) PMID:14644130|REF_RGD_ID:9831408 8841786 Rpl36 ribosomal protein L36 gene DOID:2661 myoepithelioma ISO RGD:736673 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8841786 Rpl36 ribosomal protein L36 gene DOID:630 genetic disease ISO RGD:736673 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841805 Nkain3 sodium/potassium transporting ATPase interacting 3 gene DOID:630 genetic disease ISO RGD:1606659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841814 Eps15 epidermal growth factor receptor pathway substrate 15 gene DOID:630 genetic disease ISO RGD:1313642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:0070004 myeloid neoplasm ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22875613 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1615754 D RGD:9068941 20210129 RGD BCR/ABL fusion PMID:9310467|REF_RGD_ID:41404633 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1317506 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:25741868|PMID:28492532 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:11198 DiGeorge syndrome ISO RGD:1317506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:1240 leukemia ISO RGD:1317506 D RGD:9068941 20200609 RGD PMID:11313935|REF_RGD_ID:11038780 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:5419 schizophrenia ISO RGD:1317506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:630 genetic disease ISO RGD:1317506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:1317506 D RGD:7240710 20180130 OMIM 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1317506 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:7683349|REF_RGD_ID:11038783 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1317506 D RGD:9068941 20200609 RGD DNA:translocations:cds: PMID:2683759|REF_RGD_ID:11038776 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1317506 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:3101769|REF_RGD_ID:1600510 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1317506 D RGD:9068941 20210129 RGD BCR/ABL fusion PMID:12613514|REF_RGD_ID:41404631 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:8692 myeloid leukemia ISO RGD:12120212 D RGD:9068941 20230406 OMIA Leukaemia, chronic monocytic PMID:21143615|PMID:37009802 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878872 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:9002473 Blast Crisis ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570118 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:9002867 Myeloid Leukemia, Chronic-Phase disease_progression ISO RGD:1317506 D RGD:9068941 20200609 RGD PMID:19344397|REF_RGD_ID:11038809 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:9005749 Necrosis ISO RGD:1317506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23211037 8841831 Bcr BCR activator of RhoGEF and GTPase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317506 D RGD:7240710 20230505 OMIM 8841859 Rnase10 ribonuclease A family member 10 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1347818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8841859 Rnase10 ribonuclease A family member 10 (inactive) gene DOID:630 genetic disease ISO RGD:1347818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841870 Mcm3 minichromosome maintenance complex component 3 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1313036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:33654309 8841870 Mcm3 minichromosome maintenance complex component 3 gene DOID:630 genetic disease ISO RGD:1313036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841891 Rrp1b ribosomal RNA processing 1B gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 8841891 Rrp1b ribosomal RNA processing 1B gene DOID:0110266 cataract 9 multiple types ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8841891 Rrp1b ribosomal RNA processing 1B gene DOID:12849 autistic disorder ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8841891 Rrp1b ribosomal RNA processing 1B gene DOID:630 genetic disease ISO RGD:1313777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841891 Rrp1b ribosomal RNA processing 1B gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8841891 Rrp1b ribosomal RNA processing 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8841891 Rrp1b ribosomal RNA processing 1B gene DOID:9263 homocystinuria ISO RGD:1313777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8841891 Rrp1b ribosomal RNA processing 1B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313777 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8841914 Dcaf10 DDB1 and CUL4 associated factor 10 gene DOID:630 genetic disease ISO RGD:1352348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841928 Slc1a5 solute carrier family 1 member 5 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1347799 D RGD:9068941 20220225 RGD PMID:24762957|REF_RGD_ID:151361157 8841928 Slc1a5 solute carrier family 1 member 5 gene DOID:0080600 COVID-19 ISO RGD:1347799 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8841928 Slc1a5 solute carrier family 1 member 5 gene DOID:1793 pancreatic cancer ISO RGD:1347799 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:35929395 8841928 Slc1a5 solute carrier family 1 member 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8841928 Slc1a5 solute carrier family 1 member 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347799 D RGD:9068941 20220224 RGD protein:increased expression:esophagus PMID:33609949|REF_RGD_ID:151361149 8841928 Slc1a5 solute carrier family 1 member 5 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1347799 D RGD:9068941 20220303 RGD PMID:26936531|REF_RGD_ID:11532833 8841928 Slc1a5 solute carrier family 1 member 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1347799 D RGD:9068941 20220224 RGD PMID:26279756|REF_RGD_ID:151361150 8841928 Slc1a5 solute carrier family 1 member 5 gene DOID:630 genetic disease ISO RGD:1347799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841928 Slc1a5 solute carrier family 1 member 5 gene DOID:6432 pulmonary hypertension ISO RGD:1347799 D RGD:9068941 20220224 RGD protein:increased expression:myocytes plasma membrane, right ventricle PMID:23794090|REF_RGD_ID:151361111 8841928 Slc1a5 solute carrier family 1 member 5 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:708512 D RGD:9068941 20220224 RGD mRNA:increased expression:right ventricle PMID:23794090|REF_RGD_ID:151361111 8841941 Stmn4 stathmin 4 gene DOID:630 genetic disease ISO RGD:733859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841957 Rabif RAB interacting factor gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1344362 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8841957 Rabif RAB interacting factor gene DOID:1540 parathyroid carcinoma ISO RGD:1344362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8841957 Rabif RAB interacting factor gene DOID:630 genetic disease ISO RGD:1344362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8841957 Rabif RAB interacting factor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1344362 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8841957 Rabif RAB interacting factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8841963 Fcho1 FCH and mu domain containing endocytic adaptor 1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1317013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:30822429|PMID:32098969 8841963 Fcho1 FCH and mu domain containing endocytic adaptor 1 gene DOID:10316 pneumoconiosis ISO RGD:1317013 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8841963 Fcho1 FCH and mu domain containing endocytic adaptor 1 gene DOID:630 genetic disease ISO RGD:1317013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8841963 Fcho1 FCH and mu domain containing endocytic adaptor 1 gene DOID:9003039 Immunodeficiency 76 ISO RGD:1317013 D RGD:7240710 20210303 OMIM 8841963 Fcho1 FCH and mu domain containing endocytic adaptor 1 gene DOID:9003039 Immunodeficiency 76 ISO RGD:1317013 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 76 PMID:25741868|PMID:28492532|PMID:30822429|PMID:32098969 8842008 Atp11c ATPase phospholipid transporting 11C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8842008 Atp11c ATPase phospholipid transporting 11C gene DOID:0111846 X-linked congenital hemolytic anemia ISO RGD:1351598 D RGD:7240710 20190315 OMIM 8842008 Atp11c ATPase phospholipid transporting 11C gene DOID:0111846 X-linked congenital hemolytic anemia ISO RGD:1351598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked congenital hemolytic anemia PMID:25741868|PMID:26944472 8842008 Atp11c ATPase phospholipid transporting 11C gene DOID:12259 hemophilia B ISO RGD:1351598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 8842008 Atp11c ATPase phospholipid transporting 11C gene DOID:12849 autistic disorder ISO RGD:1351598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8842008 Atp11c ATPase phospholipid transporting 11C gene DOID:630 genetic disease ISO RGD:1351598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8842067 Gnb1l G protein subunit beta 1 like gene DOID:0060041 autism spectrum disorder ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8842067 Gnb1l G protein subunit beta 1 like gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1322292 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8842067 Gnb1l G protein subunit beta 1 like gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1322292 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8842067 Gnb1l G protein subunit beta 1 like gene DOID:0111996 immunodeficiency 51 ISO RGD:1322292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8842067 Gnb1l G protein subunit beta 1 like gene DOID:1059 intellectual disability ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8842067 Gnb1l G protein subunit beta 1 like gene DOID:11198 DiGeorge syndrome ISO RGD:1322292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8842067 Gnb1l G protein subunit beta 1 like gene DOID:11372 megacolon ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8842067 Gnb1l G protein subunit beta 1 like gene DOID:12583 velocardiofacial syndrome ISO RGD:1322292 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8842067 Gnb1l G protein subunit beta 1 like gene DOID:12849 autistic disorder ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8842067 Gnb1l G protein subunit beta 1 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8842067 Gnb1l G protein subunit beta 1 like gene DOID:1826 epilepsy ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8842067 Gnb1l G protein subunit beta 1 like gene DOID:2213 hemorrhagic disease ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8842067 Gnb1l G protein subunit beta 1 like gene DOID:5419 schizophrenia ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8842067 Gnb1l G protein subunit beta 1 like gene DOID:612 primary immunodeficiency disease ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8842067 Gnb1l G protein subunit beta 1 like gene DOID:630 genetic disease ISO RGD:1322292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842067 Gnb1l G protein subunit beta 1 like gene DOID:9003871 Venous Thrombosis ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8842067 Gnb1l G protein subunit beta 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8842067 Gnb1l G protein subunit beta 1 like gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1322292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8842087 Mbd2 methyl-CpG binding domain protein 2 gene DOID:1059 intellectual disability ISO RGD:1312368 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8842087 Mbd2 methyl-CpG binding domain protein 2 gene DOID:11832 visual epilepsy ISO RGD:1595452 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12123686|REF_RGD_ID:9587847 8842087 Mbd2 methyl-CpG binding domain protein 2 gene DOID:224 transient cerebral ischemia ISO RGD:1595452 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 8842087 Mbd2 methyl-CpG binding domain protein 2 gene DOID:4448 macular degeneration ISO RGD:1312369 D RGD:9068941 20200609 RGD PMID:24939308|REF_RGD_ID:9588663 8842087 Mbd2 methyl-CpG binding domain protein 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1312368 D RGD:9068941 20200609 RGD DNA:snps, haplotype:intron, 3' utr:c.1109+1001T>C (rs1145317), c.*450A>G (rs7614) (human) PMID:24849540|REF_RGD_ID:9588659 8842087 Mbd2 methyl-CpG binding domain protein 2 gene DOID:630 genetic disease ISO RGD:1312368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842087 Mbd2 methyl-CpG binding domain protein 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1312368 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:20937307|REF_RGD_ID:9588623 8842087 Mbd2 methyl-CpG binding domain protein 2 gene DOID:8456 choline deficiency disease ISO RGD:1595452 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:17724018|REF_RGD_ID:9588267 8842087 Mbd2 methyl-CpG binding domain protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8842087 Mbd2 methyl-CpG binding domain protein 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1595452 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:23716065|REF_RGD_ID:9588620 8842087 Mbd2 methyl-CpG binding domain protein 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1312368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8842087 Mbd2 methyl-CpG binding domain protein 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1312369 D RGD:9068941 20220825 MouseDO OMIM:222100 8842102 LOC102003853 myosin-3 gene DOID:0050646 distal arthrogryposis ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868|PMID:28492532 8842102 LOC102003853 myosin-3 gene DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome ISO RGD:731491 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: PTERYGIUM SYNDROME, MULTIPLE PMID:17576681|PMID:25741868|PMID:28492532|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 8842102 LOC102003853 myosin-3 gene DOID:0080719 congenital myopathy 6 ISO RGD:731491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 8842102 LOC102003853 myosin-3 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:731491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 8842102 LOC102003853 myosin-3 gene DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A ISO RGD:731491 D RGD:7240710 20180221 OMIM 8842102 LOC102003853 myosin-3 gene DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A PMID:17576681|PMID:18414213|PMID:18470895|PMID:25741868|PMID:25957469|PMID:27381093|PMID:28492532|PMID:29314551|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 8842102 LOC102003853 myosin-3 gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:731491 D RGD:7240710 20190911 OMIM 8842102 LOC102003853 myosin-3 gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1B PMID:17576681|PMID:18414213|PMID:25741868|PMID:25741870|PMID:28492532|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 8842102 LOC102003853 myosin-3 gene DOID:0090116 spondylocarpotarsal synostosis syndrome ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:29805041|PMID:32902138|PMID:33726816|PMID:34204301|PMID:34440395|PMID:35169139|PMID:9536098 8842102 LOC102003853 myosin-3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:731491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:25741868 8842102 LOC102003853 myosin-3 gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:731491 D RGD:8554872 20231017 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities PMID:25741868|PMID:28492532 8842102 LOC102003853 myosin-3 gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:731491 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:16642020|PMID:17576681|PMID:18414213|PMID:19142688|PMID:25741868|PMID:28492532|PMID:28779239|PMID:35169139|PMID:9536098 8842102 LOC102003853 myosin-3 gene DOID:0111602 distal arthrogryposis type 2B3 ISO RGD:731491 D RGD:7240710 20190626 OMIM 8842102 LOC102003853 myosin-3 gene DOID:0111602 distal arthrogryposis type 2B3 ISO RGD:731491 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall) PMID:16642020|PMID:18414213|PMID:18695058|PMID:25256237|PMID:25741868|PMID:26578207|PMID:28492532|PMID:29625835|PMID:29805041|PMID:30826400|PMID:31030430|PMID:34136434 8842102 LOC102003853 myosin-3 gene DOID:0111604 Freeman-Sheldon syndrome ISO RGD:731491 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome PMID:16642020|PMID:17576681|PMID:18414213|PMID:18695058|PMID:19142688|PMID:20924721|PMID:23265383|PMID:25256237|PMID:25740846|PMID:25741868|PMID:26945064|PMID:26996280|PMID:28492532|PMID:28584669|PMID:30379605|PMID:30826400|PMID:31030430|PMID:32732226|PMID:34136434|PMID:35169139|PMID:9536098 8842102 LOC102003853 myosin-3 gene DOID:0111605 distal arthrogryposis type 2A ISO RGD:731491 D RGD:7240710 20200205 OMIM 8842102 LOC102003853 myosin-3 gene DOID:0111605 distal arthrogryposis type 2A ISO RGD:731491 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon) PMID:16642020|PMID:18695058|PMID:25256237|PMID:25741868|PMID:28492532|PMID:30826400|PMID:34136434 8842102 LOC102003853 myosin-3 gene DOID:10283 prostate cancer ISO RGD:731491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868|PMID:28492532|PMID:31030430 8842102 LOC102003853 myosin-3 gene DOID:1826 epilepsy ISO RGD:731491 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8842102 LOC102003853 myosin-3 gene DOID:630 genetic disease ISO RGD:731491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16642020|PMID:18695058|PMID:23401156|PMID:25741868|PMID:25957469|PMID:27381093|PMID:28205584|PMID:28492532|PMID:291935|PMID:29805041|PMID:30008475 8842102 LOC102003853 myosin-3 gene DOID:9000884 Rhabdomyolysis ISO RGD:731491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:16642020|PMID:25741868|PMID:28492532|PMID:28779239 8842155 CUNH15orf40 chromosome unknown C15orf40 homolog gene DOID:13938 amenorrhea ISO RGD:1604247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8842155 CUNH15orf40 chromosome unknown C15orf40 homolog gene DOID:2717 Bloom syndrome ISO RGD:1604247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8842155 CUNH15orf40 chromosome unknown C15orf40 homolog gene DOID:630 genetic disease ISO RGD:1604247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842155 CUNH15orf40 chromosome unknown C15orf40 homolog gene DOID:9256 colorectal cancer ISO RGD:1604247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8842163 Rpl24 ribosomal protein L24 gene DOID:5723 optic atrophy ISO RGD:731427 D RGD:9068941 20220825 MouseDO OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708 8842163 Rpl24 ribosomal protein L24 gene DOID:630 genetic disease ISO RGD:731426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842163 Rpl24 ribosomal protein L24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8842167 Rassf8 Ras association domain family member 8 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1318811 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 8842167 Rassf8 Ras association domain family member 8 gene DOID:5409 lung small cell carcinoma ISO RGD:1318811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8842167 Rassf8 Ras association domain family member 8 gene DOID:630 genetic disease ISO RGD:1318811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1316156 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:16199547|PMID:16550608|PMID:16947863|PMID:17576681|PMID:24728327|PMID:25741868|PMID:25910212|PMID:26023681|PMID:26556299|PMID:27004399|PMID:27153395|PMID:27356891|PMID:27655433|PMID:28259476|PMID:28423363|PMID:28492532|PMID:28873162|PMID:29478780|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30414346|PMID:30787465|PMID:31664448|PMID:31681265|PMID:31874108|PMID:32183364|PMID:32295625|PMID:32427313|PMID:32496904|PMID:33332384|PMID:33780288|PMID:34308104|PMID:8304337|PMID:9536098 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1316156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0110850 xeroderma pigmentosum group B ISO RGD:1316156 D RGD:7240710 20180130 OMIM 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0110850 xeroderma pigmentosum group B ISO RGD:1316156 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group B PMID:16947863|PMID:2167179|PMID:24728327|PMID:25741868|PMID:26023681|PMID:26467025|PMID:26556299|PMID:26884178|PMID:27004399|PMID:27153395|PMID:27356891|PMID:27655433|PMID:28259476|PMID:28423363|PMID:28492532|PMID:28873162|PMID:29376097|PMID:29478780|PMID:29625052|PMID:30256826|PMID:30306255|PMID:30414346|PMID:30787465|PMID:31541171|PMID:31664448|PMID:31681265|PMID:31874108|PMID:32183364|PMID:32295625|PMID:32496904|PMID:33332384|PMID:34308104|PMID:4811796|PMID:8304337|PMID:8408834|PMID:8663148 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1316156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111866 trichothiodystrophy ISO RGD:1316156 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T119P (human) PMID:9012405|REF_RGD_ID:13207496 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111869 photosensitive trichothiodystrophy 2 ISO RGD:1316156 D RGD:7240710 20180130 OMIM 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111869 photosensitive trichothiodystrophy 2 ISO RGD:1316156 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive PMID:16947863|PMID:24728327|PMID:25741868|PMID:26556299|PMID:27153395|PMID:27356891|PMID:28259476|PMID:28423363|PMID:28492532|PMID:29625052|PMID:30306255|PMID:30414346|PMID:31664448|PMID:31874108|PMID:32183364|PMID:32295625|PMID:32496904|PMID:9012405 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1316156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1316156 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:9714461|REF_RGD_ID:5688738 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:11088 asphyxia neonatorum ISO RGD:1307139 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:9763211|REF_RGD_ID:2302855 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:14250 Down syndrome ISO RGD:1316156 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:10328528|REF_RGD_ID:13207452 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:2394 ovarian cancer ISO RGD:1316156 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:2962 Cockayne syndrome ISO RGD:1318736 D RGD:9068941 20200609 RGD PMID:19114557|REF_RGD_ID:10401087 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1316156 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2064+741T>C (rs3738948) (human) PMID:25069034|REF_RGD_ID:11098167 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:574 peripheral nervous system disease ISO RGD:1316156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:630 genetic disease ISO RGD:1316156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16550608|PMID:16947863|PMID:24728327|PMID:25741868|PMID:25910212|PMID:26884178|PMID:28492532|PMID:29376097 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1316156 D RGD:9068941 20200609 RGD DNA:snps, haplotype:introns:c.43-61A>G, c.1151-2708A>G, (rs2271026, rs4150441) (human) PMID:16835333|REF_RGD_ID:13207447 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1316156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12569548 8842198 Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit gene DOID:9256 colorectal cancer ISO RGD:1316156 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 8842222 Gad2 glutamate decarboxylase 2 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:733945 D RGD:9068941 20231109 RGD DNA:SNP::-243A>G (rs2236418) PMID:17034009|REF_RGD_ID:401900120 8842222 Gad2 glutamate decarboxylase 2 gene DOID:0060001 withdrawal disorder ISO RGD:2653 D RGD:9068941 20231109 RGD associated with alcohol dependence:protein:increased expression:cerebral cortex PMID:15976529|REF_RGD_ID:1643202 8842222 Gad2 glutamate decarboxylase 2 gene DOID:0060041 autism spectrum disorder sexual_dimorphism ISO RGD:2653 D RGD:9068941 20231116 RGD PMID:27353514|REF_RGD_ID:401900600 8842222 Gad2 glutamate decarboxylase 2 gene DOID:11714 gestational diabetes ISO RGD:733945 D RGD:9068941 20200609 RGD PMID:18588707|REF_RGD_ID:2313295 8842222 Gad2 glutamate decarboxylase 2 gene DOID:11832 visual epilepsy susceptibility ISO RGD:10616 D RGD:9068941 20200609 RGD PMID:8954991|REF_RGD_ID:1302511 8842222 Gad2 glutamate decarboxylase 2 gene DOID:1470 major depressive disorder ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 8842222 Gad2 glutamate decarboxylase 2 gene DOID:1742 drug psychosis susceptibility ISO RGD:733945 D RGD:9068941 20231109 RGD associated with amphetamine abuse; DNA:SNP: :rs2236418(human) PMID:27967329|REF_RGD_ID:401900122 8842222 Gad2 glutamate decarboxylase 2 gene DOID:1826 epilepsy ISO RGD:10616 D RGD:9068941 20220825 MouseDO 8842222 Gad2 glutamate decarboxylase 2 gene DOID:1826 epilepsy ISO RGD:2653 D RGD:9068941 20231116 RGD PMID:14620876|REF_RGD_ID:401900594 8842222 Gad2 glutamate decarboxylase 2 gene DOID:224 transient cerebral ischemia disease_progression ISO RGD:2653 D RGD:9068941 20231116 RGD PMID:20659561|REF_RGD_ID:401900597 8842222 Gad2 glutamate decarboxylase 2 gene DOID:3312 bipolar disorder ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956 8842222 Gad2 glutamate decarboxylase 2 gene DOID:5419 schizophrenia ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15560956|PMID:18923069 8842222 Gad2 glutamate decarboxylase 2 gene DOID:5419 schizophrenia ISO RGD:733945 D RGD:9068941 20200609 RGD protein:increased expression:posterior subiculum, parahippocampal gyrus PMID:21250934|REF_RGD_ID:6480427 8842222 Gad2 glutamate decarboxylase 2 gene DOID:630 genetic disease ISO RGD:733945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842222 Gad2 glutamate decarboxylase 2 gene DOID:670 amphetamine abuse susceptibility ISO RGD:733945 D RGD:9068941 20231109 RGD DNA:SNP: :rs2236418(human) PMID:27967329|REF_RGD_ID:401900122 8842222 Gad2 glutamate decarboxylase 2 gene DOID:8947 diabetic retinopathy ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21412422 8842222 Gad2 glutamate decarboxylase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:733945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 8842222 Gad2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10616 D RGD:9068941 20200609 RGD PMID:19188044|REF_RGD_ID:2313292 8842222 Gad2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10616 D RGD:9068941 20220825 MouseDO OMIM:222100 8842222 Gad2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733945 D RGD:9068941 20200609 RGD PMID:19085183|REF_RGD_ID:2313294 8842222 Gad2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:10616 D RGD:9068941 20200609 RGD PMID:18005036|REF_RGD_ID:2313296 8842222 Gad2 glutamate decarboxylase 2 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:733945 D RGD:9068941 20200609 RGD PMID:19741189|REF_RGD_ID:2313289 8842222 Gad2 glutamate decarboxylase 2 gene DOID:9975 cocaine dependence ISO RGD:733945 D RGD:9068941 20231109 RGD mRNA:decreased expression:hippocampus PMID:22253714|REF_RGD_ID:401900163 8842222 Gad2 glutamate decarboxylase 2 gene DOID:9976 heroin dependence susceptibility ISO RGD:733945 D RGD:9068941 20231109 RGD DNA:SNP: ::rs8190646(human) PMID:19500151|REF_RGD_ID:5509583 8842242 Spred1 sprouty related EVH1 domain containing 1 gene DOID:0050469 Costello syndrome ISO RGD:1318683 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Costello syndrome PMID:28492532 8842242 Spred1 sprouty related EVH1 domain containing 1 gene DOID:0070484 Legius syndrome ISO RGD:1318683 D RGD:7240710 20180130 OMIM 8842242 Spred1 sprouty related EVH1 domain containing 1 gene DOID:0070484 Legius syndrome ISO RGD:1318683 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Legius syndrome | ClinVar Annotator: match by term: Neurofibromatosis type 1 like syndrome PMID:15683364|PMID:16199547|PMID:17576681|PMID:17704776|PMID:19366998|PMID:19443465|PMID:19920235|PMID:20179001|PMID:20571013|PMID:20945555|PMID:21089071|PMID:21520333|PMID:21548021|PMID:21649642|PMID:22751498|PMID:2275304|PMID:22753041|PMID:24033266|PMID:24334617|PMID:24469042|PMID:25074460|PMID:25741868|PMID:25883013|PMID:25981987|PMID:26084686|PMID:26214305|PMID:26635368|PMID:27081556|PMID:27763634|PMID:28150585|PMID:28492532|PMID:28747691|PMID:29758562|PMID:31370276|PMID:31401120|PMID:31443423|PMID:31573083|PMID:31629629|PMID:32107864|PMID:32396270|PMID:32575496|PMID:32806529|PMID:35418823|PMID:35904599|PMID:9536098 8842242 Spred1 sprouty related EVH1 domain containing 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1318683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704776 8842242 Spred1 sprouty related EVH1 domain containing 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:1318683 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:25741868|PMID:28492532 8842242 Spred1 sprouty related EVH1 domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8842242 Spred1 sprouty related EVH1 domain containing 1 gene DOID:3490 Noonan syndrome ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:28492532 8842242 Spred1 sprouty related EVH1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1318683 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:17704776|PMID:19920235|PMID:21089071|PMID:21548021|PMID:22751498|PMID:2275304|PMID:22753041|PMID:24033266|PMID:24334617|PMID:25741868|PMID:26214305|PMID:26635368|PMID:27763634|PMID:28492532|PMID:31401120|PMID:31443423|PMID:9536098 8842242 Spred1 sprouty related EVH1 domain containing 1 gene DOID:8712 neurofibromatosis ISO RGD:1318683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis PMID:17704776|PMID:24469042|PMID:25741868|PMID:28492532 8842242 Spred1 sprouty related EVH1 domain containing 1 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:1318683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704776 8842242 Spred1 sprouty related EVH1 domain containing 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1318683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704776 8842242 Spred1 sprouty related EVH1 domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1318683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8842262 Pyurf PIGY upstream open reading frame gene DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 ISO RGD:6893022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 PMID:25741868|PMID:26293662|PMID:28492532 8842262 Pyurf PIGY upstream open reading frame gene DOID:630 genetic disease ISO RGD:6893022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842262 Pyurf PIGY upstream open reading frame gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:6893022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8842271 Pop5 POP5 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1323474 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842280 Vwa3a von Willebrand factor A domain containing 3A gene DOID:0060399 chromosome 16p12.1 deletion syndrome ISO RGD:1641961 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb PMID:25741868 8842280 Vwa3a von Willebrand factor A domain containing 3A gene DOID:11054 urinary bladder cancer ISO RGD:1641961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8842280 Vwa3a von Willebrand factor A domain containing 3A gene DOID:12849 autistic disorder ISO RGD:1641961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8842280 Vwa3a von Willebrand factor A domain containing 3A gene DOID:5419 schizophrenia ISO RGD:1641961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8842280 Vwa3a von Willebrand factor A domain containing 3A gene DOID:630 genetic disease ISO RGD:1641961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842371 Zfp92 ZFP92 zinc finger protein gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8842371 Zfp92 ZFP92 zinc finger protein gene DOID:0050476 Barth syndrome ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8842371 Zfp92 ZFP92 zinc finger protein gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8842371 Zfp92 ZFP92 zinc finger protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8842371 Zfp92 ZFP92 zinc finger protein gene DOID:10588 adrenoleukodystrophy ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8842371 Zfp92 ZFP92 zinc finger protein gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8842371 Zfp92 ZFP92 zinc finger protein gene DOID:12849 autistic disorder ISO RGD:1344727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8842371 Zfp92 ZFP92 zinc finger protein gene DOID:13628 favism ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8842371 Zfp92 ZFP92 zinc finger protein gene DOID:2729 dyskeratosis congenita ISO RGD:1344727 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8842371 Zfp92 ZFP92 zinc finger protein gene DOID:607 paraplegia ISO RGD:1344727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8842371 Zfp92 ZFP92 zinc finger protein gene DOID:630 genetic disease ISO RGD:1344727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842380 Gpt glutamic--pyruvic transaminase gene DOID:0050654 Baller-Gerold syndrome ISO RGD:734191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:28492532 8842380 Gpt glutamic--pyruvic transaminase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:734191 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:22922605|REF_RGD_ID:14975251 8842380 Gpt glutamic--pyruvic transaminase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:734191 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 8842380 Gpt glutamic--pyruvic transaminase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:734191 D RGD:9068941 20200609 RGD PMID:24768200|REF_RGD_ID:14975160 8842380 Gpt glutamic--pyruvic transaminase gene DOID:0080546 non-alcoholic fatty liver ISO RGD:734192 D RGD:9068941 20200609 RGD protein:increased expression:liver,serum PMID:18710424|REF_RGD_ID:14975250 8842380 Gpt glutamic--pyruvic transaminase gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:734191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 8842380 Gpt glutamic--pyruvic transaminase gene DOID:0111670 primary hyperoxaluria type 1 treatment ISO RGD:734192 D RGD:9068941 20200609 RGD PMID:27239044|REF_RGD_ID:13782155 8842380 Gpt glutamic--pyruvic transaminase gene DOID:13603 obstructive jaundice ISO RGD:621720 D RGD:9068941 20230803 RGD PMID:9161836|REF_RGD_ID:11036102 8842380 Gpt glutamic--pyruvic transaminase gene DOID:3021 acute kidney failure treatment ISO RGD:621720 D RGD:9068941 20230803 RGD PMID:22209169|REF_RGD_ID:10400913 8842380 Gpt glutamic--pyruvic transaminase gene DOID:3571 liver cancer treatment ISO RGD:734191 D RGD:9068941 20200609 RGD PMID:22922605|REF_RGD_ID:14975251 8842380 Gpt glutamic--pyruvic transaminase gene DOID:409 liver disease ISO RGD:734191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25455894 8842380 Gpt glutamic--pyruvic transaminase gene DOID:4621 holoprosencephaly ISO RGD:734191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8842380 Gpt glutamic--pyruvic transaminase gene DOID:5082 liver cirrhosis severity ISO RGD:734191 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic; PMID:30665287|REF_RGD_ID:14975252 8842380 Gpt glutamic--pyruvic transaminase gene DOID:5844 myocardial infarction treatment ISO RGD:621720 D RGD:9068941 20230812 RGD PMID:32026788|REF_RGD_ID:401793703 8842380 Gpt glutamic--pyruvic transaminase gene DOID:630 genetic disease ISO RGD:734191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:621720 D RGD:9068941 20200609 RGD PMID:22706148|REF_RGD_ID:8552768 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9001659 limb reperfusion injury treatment ISO RGD:621720 D RGD:9068941 20230803 RGD PMID:36495512|REF_RGD_ID:401717522 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:621720 D RGD:9068941 20230803 RGD PMID:16141011|REF_RGD_ID:401717565 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:621720 D RGD:9068941 20230729 RGD PMID:13678701|PMID:22564598|REF_RGD_ID:329970282|REF_RGD_ID:329970285 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9002589 Bone Fractures ISO RGD:621720 D RGD:9068941 20230803 RGD protein:increased expression:serum PMID:6140133|REF_RGD_ID:401717526 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9003018 Halothane Hepatitis treatment ISO RGD:621720 D RGD:9068941 20200609 RGD PMID:28921207|REF_RGD_ID:14975164 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9004009 Reperfusion Injury ISO RGD:734191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8215636 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9004017 Chronic Hepatitis C ISO RGD:734191 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:22922605|REF_RGD_ID:14975251 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9004484 Sepsis treatment ISO RGD:621720 D RGD:9068941 20230803 RGD PMID:25243423|PMID:26814114|REF_RGD_ID:14975161|REF_RGD_ID:401717564 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9004590 Acute Liver Failure ISO RGD:734191 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:28513770|REF_RGD_ID:14975169 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9004649 Heat Stroke treatment ISO RGD:621720 D RGD:9068941 20230803 RGD PMID:25411796|REF_RGD_ID:401717524 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9005930 Endotoxemia treatment ISO RGD:621720 D RGD:9068941 20230803 RGD PMID:25514429|REF_RGD_ID:401717525 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9007102 Myocardial Ischemia ISO RGD:621720 D RGD:9068941 20230803 RGD PMID:30841448|REF_RGD_ID:401717562 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:621720 D RGD:9068941 20200609 RGD protein:increased expression, activity:serum: PMID:19085960|REF_RGD_ID:14975249 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:145039|PMID:19481104 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734192 D RGD:9068941 20200609 RGD protein:increased expression, activity:serum: PMID:19085960|REF_RGD_ID:14975249 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:621720 D RGD:9068941 20200609 RGD PMID:21772750|PMID:27293452|REF_RGD_ID:14975166|REF_RGD_ID:14975168 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:734192 D RGD:9068941 20200609 RGD PMID:28487901|REF_RGD_ID:14975162 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:621720 D RGD:9068941 20230803 RGD protein:increased expression:serum PMID:16557159|REF_RGD_ID:401717563 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:734191 D RGD:9068941 20200609 RGD PMID:28007350|REF_RGD_ID:14975240 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:734191 D RGD:9068941 20200609 RGD PMID:29279233|REF_RGD_ID:14975159 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9352 type 2 diabetes mellitus ISO RGD:621720 D RGD:9068941 20200609 RGD protein:increased expression, activity:liver: PMID:25865565|REF_RGD_ID:11342811 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9452 steatotic liver disease ISO RGD:734191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19481104 8842380 Gpt glutamic--pyruvic transaminase gene DOID:9452 steatotic liver disease ISO RGD:734191 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:30185098|REF_RGD_ID:14975167 8842406 Tsr1 TSR1 ribosome maturation factor gene DOID:0070297 primary microcephaly ISO RGD:1603994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 8842406 Tsr1 TSR1 ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1603994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8842406 Tsr1 TSR1 ribosome maturation factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8842428 Sephs1 selenophosphate synthetase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8842428 Sephs1 selenophosphate synthetase 1 gene DOID:630 genetic disease ISO RGD:1322506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842459 Morn3 MORN repeat containing 3 gene DOID:630 genetic disease ISO RGD:1603521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842478 Trmt112 tRNA methyltransferase activator subunit 11-2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8842478 Trmt112 tRNA methyltransferase activator subunit 11-2 gene DOID:1059 intellectual disability ISO RGD:1604820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8842478 Trmt112 tRNA methyltransferase activator subunit 11-2 gene DOID:3070 high grade glioma ISO RGD:1604820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8842478 Trmt112 tRNA methyltransferase activator subunit 11-2 gene DOID:630 genetic disease ISO RGD:1604820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842487 Minar1 membrane integral NOTCH2 associated receptor 1 gene DOID:2717 Bloom syndrome ISO RGD:1604043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8842487 Minar1 membrane integral NOTCH2 associated receptor 1 gene DOID:630 genetic disease ISO RGD:1604043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842487 Minar1 membrane integral NOTCH2 associated receptor 1 gene DOID:9256 colorectal cancer ISO RGD:1604043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8842502 Gmip GEM interacting protein gene DOID:630 genetic disease ISO RGD:1344953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842535 Tmem151a transmembrane protein 151A gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1606118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8842535 Tmem151a transmembrane protein 151A gene DOID:1059 intellectual disability ISO RGD:1606118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8842535 Tmem151a transmembrane protein 151A gene DOID:11612 polycystic ovary syndrome ISO RGD:1606118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8842535 Tmem151a transmembrane protein 151A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8842535 Tmem151a transmembrane protein 151A gene DOID:2746 glycogen storage disease V ISO RGD:1606118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8842535 Tmem151a transmembrane protein 151A gene DOID:630 genetic disease ISO RGD:1606118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842535 Tmem151a transmembrane protein 151A gene DOID:9002567 Episodic Kinesigenic Dyskinesia 3 ISO RGD:1606118 D RGD:7240710 20230505 OMIM 8842535 Tmem151a transmembrane protein 151A gene DOID:9002567 Episodic Kinesigenic Dyskinesia 3 ISO RGD:1606118 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 3 PMID:34518509|PMID:34820915|PMID:34970790|PMID:35587630|PMID:35727387|PMID:36856871 8842535 Tmem151a transmembrane protein 151A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606118 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8842535 Tmem151a transmembrane protein 151A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606118 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8842544 Znf891 zinc finger protein 891 gene DOID:630 genetic disease ISO RGD:7242309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842550 Otp orthopedia homeobox gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1345021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 8842550 Otp orthopedia homeobox gene DOID:630 genetic disease ISO RGD:1345021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842550 Otp orthopedia homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8842557 Ufl1 UFM1 specific ligase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8842557 Ufl1 UFM1 specific ligase 1 gene DOID:630 genetic disease ISO RGD:1319587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842591 Chm CHM Rab escort protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8842591 Chm CHM Rab escort protein gene DOID:10584 retinitis pigmentosa ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19422966|PMID:23811034|PMID:25741868|PMID:28492532|PMID:28559085|PMID:30718709|PMID:9067750 8842591 Chm CHM Rab escort protein gene DOID:12849 autistic disorder ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8842591 Chm CHM Rab escort protein gene DOID:630 genetic disease ISO RGD:732475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8842591 Chm CHM Rab escort protein gene DOID:8499 night blindness ISO RGD:732475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Night blindness PMID:25741868 8842591 Chm CHM Rab escort protein gene DOID:8501 fundus dystrophy ISO RGD:732475 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10447648|PMID:11139690|PMID:12203991|PMID:12827496|PMID:1598901|PMID:16199547|PMID:16936131|PMID:19427510|PMID:21905166|PMID:23811034|PMID:25741868|PMID:26133251|PMID:27247961|PMID:28041643|PMID:28098911|PMID:28112135|PMID:28492532|PMID:28752371|PMID:29555028|PMID:30297895|PMID:30541579|PMID:36909829|PMID:9067750|PMID:9175730 8842591 Chm CHM Rab escort protein gene DOID:9008296 Eye Abnormalities ISO RGD:732475 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 8842591 Chm CHM Rab escort protein gene DOID:9821 Choroideremia ISO RGD:732475 D RGD:7240710 20180130 OMIM 8842591 Chm CHM Rab escort protein gene DOID:9821 Choroideremia ISO RGD:732475 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CHM-related condition | ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type PMID:1044764|PMID:10447648|PMID:11139690|PMID:12203991|PMID:12827496|PMID:1302003|PMID:1598901|PMID:16087855|PMID:16199547|PMID:16936131|PMID:17576681|PMID:18766988|PMID:19427510|PMID:21905166|PMID:22957832|PMID:23811034|PMID:25741868|PMID:25744334|PMID:25912515|PMID:26133251|PMID:27247961|PMID:28041643|PMID:28098911|PMID:28492532|PMID:28559085|PMID:29045269|PMID:29555028|PMID:30541579|PMID:30995293|PMID:31054281|PMID:32097478|PMID:32364220|PMID:32487042|PMID:32531858|PMID:36909829|PMID:7981670|PMID:8477262|PMID:8832720|PMID:9067750|PMID:9175730|PMID:9536098 8842619 Ly6g5c lymphocyte antigen 6 family member G5C gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8842619 Ly6g5c lymphocyte antigen 6 family member G5C gene DOID:11372 megacolon ISO RGD:1346509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8842619 Ly6g5c lymphocyte antigen 6 family member G5C gene DOID:630 genetic disease ISO RGD:1346509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842626 Lin7b lin-7 homolog B, crumbs cell polarity complex component gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:734321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8842626 Lin7b lin-7 homolog B, crumbs cell polarity complex component gene DOID:0111076 progressive familial heart block type IB ISO RGD:734321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 8842626 Lin7b lin-7 homolog B, crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:734321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842634 Kctd12 potassium channel tetramerization domain containing 12 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8842634 Kctd12 potassium channel tetramerization domain containing 12 gene DOID:630 genetic disease ISO RGD:1319755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060001 withdrawal disorder ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18184829 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060041 autism spectrum disorder ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:20506139|PMID:20506140|PMID:21844811|PMID:22420048|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060321 umbilical hernia ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22473653 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:736847 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:25741868|PMID:31690835 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0080600 COVID-19 ISO RGD:736847 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:0111321 idiopathic generalized epilepsy 7 ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 PMID:25326635|PMID:25741868 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:10652 Alzheimer's disease ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18071042 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:10652 Alzheimer's disease ISO RGD:736847 D RGD:9068941 20200609 RGD PMID:15465084|REF_RGD_ID:1358509 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:10357 D RGD:9068941 20220414 RGD PMID:14970827|REF_RGD_ID:151708703 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:12217 Lewy body dementia ISO RGD:736847 D RGD:9068941 20200609 RGD PMID:15465084|REF_RGD_ID:1358509 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:12849 autistic disorder ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:1324 lung cancer disease_progression ISO RGD:736847 D RGD:9068941 20220414 RGD DNA:CNV:: CNV-3956(human) PMID:25407004|REF_RGD_ID:11074492 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:1561 cognitive disorder ameliorates ISO RGD:2348 D RGD:9068941 20220414 RGD PMID:19158670|REF_RGD_ID:151708702 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:736847 D RGD:9068941 20220414 RGD DNA:CNV:: CNV-3956(human) PMID:25407004|REF_RGD_ID:11074492 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736847 D RGD:9068941 20220224 RGD mRNA:increased expression:esophagus (human) PMID:27610024|REF_RGD_ID:151361143 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:736847 D RGD:9068941 20220414 RGD PMID:33603170|REF_RGD_ID:151667905 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:736847 D RGD:9068941 20220414 RGD PMID:33603170|REF_RGD_ID:151667905 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:736847 D RGD:9068941 20220414 RGD PMID:19151195|PMID:19326440|REF_RGD_ID:151667906|REF_RGD_ID:151667908 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:5419 schizophrenia ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:630 genetic disease ISO RGD:736847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:7148 rheumatoid arthritis ISO RGD:2348 D RGD:9068941 20220414 RGD mRNA,protein:increased expression:joint, spleen: PMID:31279484|REF_RGD_ID:151676715 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:736847 D RGD:9068941 20220414 RGD PMID:18722110|REF_RGD_ID:151667912 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:8577 ulcerative colitis ISO RGD:736847 D RGD:9068941 20220414 RGD mRNA:increased expression:intestine: PMID:27051591|REF_RGD_ID:151667910 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:8778 Crohn's disease ISO RGD:736847 D RGD:9068941 20220414 RGD mRNA:increased expression:colon: PMID:27051591|REF_RGD_ID:151667910 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9000099 Experimental Colitis treatment ISO RGD:2348 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9000998 Brain Injuries ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24289814 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9001793 Generalized Epilepsy ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19136953 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002211 Hyperalgesia ameliorates ISO RGD:2348 D RGD:9068941 20220414 RGD associated with sciatic neuropathy; PMID:20619541|REF_RGD_ID:151708701 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898479 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002886 Auditory Perceptual Disorders ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10578459 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9002955 Nerve Degeneration ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21715663 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18844224 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24089524 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9007 sudden infant death syndrome ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000980 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9007921 Spina Bifida Cystica ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22473653 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9008023 Memory Disorders ISO RGD:736847 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18848931 8842640 Chrna7 cholinergic receptor nicotinic alpha 7 subunit gene DOID:9256 colorectal cancer ISO RGD:736847 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 8842657 Copb1 COPI coat complex subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:731922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8842657 Copb1 COPI coat complex subunit beta 1 gene DOID:2256 osteochondrodysplasia ISO RGD:731922 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia 8842657 Copb1 COPI coat complex subunit beta 1 gene DOID:630 genetic disease ISO RGD:731922 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8842657 Copb1 COPI coat complex subunit beta 1 gene DOID:83 cataract ISO RGD:731922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:33632302 8842657 Copb1 COPI coat complex subunit beta 1 gene DOID:9005123 Baralle-Macken Syndrome ISO RGD:731922 D RGD:7240710 20210414 OMIM 8842657 Copb1 COPI coat complex subunit beta 1 gene DOID:9005123 Baralle-Macken Syndrome ISO RGD:731922 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Baralle-Macken syndrome PMID:25741868|PMID:33632302 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:0060041 autism spectrum disorder ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604368 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1604368 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:1059 intellectual disability ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:11198 DiGeorge syndrome ISO RGD:1604368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:11372 megacolon ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:12583 velocardiofacial syndrome ISO RGD:1604368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:12849 autistic disorder ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:1826 epilepsy ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:2213 hemorrhagic disease ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:5419 schizophrenia ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:612 primary immunodeficiency disease ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:630 genetic disease ISO RGD:1604368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:9003871 Venous Thrombosis ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8842683 Trmt2a tRNA methyltransferase 2 homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0060163 body dysmorphic disorder ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080227 autosomal dominant intellectual developmental disorder 55 ISO RGD:1317328 D RGD:7240710 20190315 OMIM 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080227 autosomal dominant intellectual developmental disorder 55 ISO RGD:1317328 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES PMID:16199547|PMID:25066056|PMID:25741868|PMID:28492532|PMID:29100083|PMID:31656175|PMID:32485575 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1317328 D RGD:7240710 20190315 OMIM 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1317328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:16199547|PMID:17576681|PMID:25066056|PMID:25741868|PMID:28492532|PMID:29100083|PMID:30348779|PMID:31273557|PMID:9536098 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:1317328 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome PMID:25741868 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:1059 intellectual disability ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:10603 glucose intolerance ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:10907 microcephaly ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130|PMID:25741868 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:12849 autistic disorder ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:24824130 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:1826 epilepsy ISO RGD:1317328 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:1909 melanoma ISO RGD:1317328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:4195 hyperglycemia ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25066056|PMID:25741868|PMID:28492532 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:630 genetic disease ISO RGD:1317328 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9000495 Tremor ISO RGD:1317328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9004657 Weight Gain ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33812996 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9006205 Animal Disease Models ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33812996 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9007692 Insulin Resistance ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:30718926|PMID:33812996 8842706 Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit gene DOID:9452 steatotic liver disease ISO RGD:1317328 D RGD:9068941 20211112 CTD CTD Direct Evidence: therapeutic PMID:33812996 8842722 Tbcc tubulin folding cofactor C gene DOID:0050444 infantile Refsum disease ISO RGD:1315555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8842722 Tbcc tubulin folding cofactor C gene DOID:630 genetic disease ISO RGD:1315555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842722 Tbcc tubulin folding cofactor C gene DOID:905 Zellweger syndrome ISO RGD:1315555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8842726 Letm2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1322565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8842726 Letm2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1322565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8842726 Letm2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:607 paraplegia ISO RGD:1322565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8842726 Letm2 leucine zipper and EF-hand containing transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1322565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842746 Tec tec protein tyrosine kinase gene DOID:630 genetic disease ISO RGD:732236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842768 Gadd45gip1 GADD45G interacting protein 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1319487 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8842768 Gadd45gip1 GADD45G interacting protein 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1319487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8842768 Gadd45gip1 GADD45G interacting protein 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1319487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8842768 Gadd45gip1 GADD45G interacting protein 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1319487 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8842768 Gadd45gip1 GADD45G interacting protein 1 gene DOID:630 genetic disease ISO RGD:1319487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842768 Gadd45gip1 GADD45G interacting protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319488 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8842774 Cfap77 cilia and flagella associated protein 77 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8842774 Cfap77 cilia and flagella associated protein 77 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604151 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8842774 Cfap77 cilia and flagella associated protein 77 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8842774 Cfap77 cilia and flagella associated protein 77 gene DOID:0081097 Rafiq syndrome ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8842774 Cfap77 cilia and flagella associated protein 77 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1604151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8842774 Cfap77 cilia and flagella associated protein 77 gene DOID:3652 Leigh disease ISO RGD:1604151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8842774 Cfap77 cilia and flagella associated protein 77 gene DOID:630 genetic disease ISO RGD:1604151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842784 Kpna3 karyopherin subunit alpha 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1322742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8842784 Kpna3 karyopherin subunit alpha 3 gene DOID:0070457 hereditary spastic paraplegia 88 ISO RGD:1322742 D RGD:7240710 20221123 OMIM 8842784 Kpna3 karyopherin subunit alpha 3 gene DOID:0070457 hereditary spastic paraplegia 88 ISO RGD:1322742 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 88, autosomal dominant PMID:25741868|PMID:34564892|PMID:34825409|PMID:34981581 8842784 Kpna3 karyopherin subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:1322742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8842784 Kpna3 karyopherin subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1322742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842804 Slc35a2 solute carrier family 35 member A2 gene DOID:0060179 Renpenning syndrome ISO RGD:1353471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renpenning syndrome PMID:25741868|PMID:28492532|PMID:32903913 8842804 Slc35a2 solute carrier family 35 member A2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8842804 Slc35a2 solute carrier family 35 member A2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1353471 D RGD:7240710 20180130 OMIM 8842804 Slc35a2 solute carrier family 35 member A2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1353471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:23561849|PMID:24115232|PMID:25262651|PMID:25741868|PMID:25877686|PMID:26350515|PMID:26467025|PMID:28492532|PMID:28771251|PMID:29907092|PMID:30194038|PMID:30653653|PMID:30746764|PMID:30817854|PMID:34161696 8842804 Slc35a2 solute carrier family 35 member A2 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1353471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8842804 Slc35a2 solute carrier family 35 member A2 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1353471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8842804 Slc35a2 solute carrier family 35 member A2 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1353471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8842804 Slc35a2 solute carrier family 35 member A2 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1353471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8842804 Slc35a2 solute carrier family 35 member A2 gene DOID:12849 autistic disorder ISO RGD:1353471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:28492532|PMID:30208311 8842804 Slc35a2 solute carrier family 35 member A2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1353471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868 8842804 Slc35a2 solute carrier family 35 member A2 gene DOID:630 genetic disease ISO RGD:1353471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 8842804 Slc35a2 solute carrier family 35 member A2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:731305 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:21330466|REF_RGD_ID:5684550 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:731305 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:0060180 colitis ISO RGD:3213 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:20638179|REF_RGD_ID:5684542 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:0080285 developmental and epileptic encephalopathy 58 ISO RGD:731305 D RGD:7240710 20190315 OMIM 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:0080285 developmental and epileptic encephalopathy 58 ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 PMID:25741868|PMID:28492532|PMID:29100083 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:11023 D RGD:9068941 20200609 RGD PMID:20553714|REF_RGD_ID:5684901 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:11023 D RGD:9068941 20200609 RGD PMID:21900882|REF_RGD_ID:5684548 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:731305 D RGD:9068941 20200609 RGD sporadic AD; DNA:SNP:intron:rs2289656 PMID:18780967|REF_RGD_ID:5508228 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:10652 Alzheimer's disease treatment ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:24877042|REF_RGD_ID:10059402 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:25061595|REF_RGD_ID:10059388 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:11981 morbid obesity onset ISO RGD:731305 D RGD:9068941 20200609 RGD protein:substitution:Y722C;severe early-onset PMID:16702999|REF_RGD_ID:1626135 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:12217 Lewy body dementia ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20662941 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:12849 autistic disorder ISO RGD:731305 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:20662941|REF_RGD_ID:5684891 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1470 major depressive disorder ISO RGD:731305 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2289657, rs56142442 (human) PMID:19844206|REF_RGD_ID:5684911 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1470 major depressive disorder ISO RGD:731305 D RGD:9068941 20200609 RGD mRNA:decreased expression:depression PMID:21223646|REF_RGD_ID:5684778 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1470 major depressive disorder severity ISO RGD:731305 D RGD:9068941 20200609 RGD DNA:SNPs: : (human) PMID:20124106|REF_RGD_ID:5684909 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1574 alcohol use disorder ISO RGD:11023 D RGD:9068941 20240127 RGD associated with Prenatal Exposure Delayed Effects and anxiety disorder:protein:decreased acetylation:brain PMID:30016666|REF_RGD_ID:401959614 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1574 alcohol use disorder ISO RGD:3213 D RGD:9068941 20240208 RGD PMID:8840027|REF_RGD_ID:401965407 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1596 depressive disorder ISO RGD:1552406 D RGD:9068941 20200609 RGD PMID:20956301|REF_RGD_ID:5684782 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1596 depressive disorder ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:22097208|REF_RGD_ID:5684923 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1686 glaucoma ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:20357199|REF_RGD_ID:5684908 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1686 glaucoma ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:eye: PMID:10711692|REF_RGD_ID:8655608 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1824 status epilepticus ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431|PMID:8821376 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:1826 epilepsy ISO RGD:731305 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:2030 anxiety disorder ameliorates ISO RGD:3213 D RGD:9068941 20231221 RGD associated with alcohol use disorder PMID:18322102|REF_RGD_ID:401938616 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:2055 post-traumatic stress disorder ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:20863519|REF_RGD_ID:5684783 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:3069 malignant astrocytoma ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:3070 high grade glioma ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:3312 bipolar disorder ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19018715 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:3312 bipolar disorder ISO RGD:731305 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum PMID:21612826|REF_RGD_ID:5684549 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:11023 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21330466|REF_RGD_ID:5684550 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:5154 borna disease ISO RGD:3213 D RGD:9068941 20240222 RGD mRNA:decreased expression:cerebellum,hippocampus PMID:11175319|REF_RGD_ID:2325644 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:5419 schizophrenia ISO RGD:731305 D RGD:9068941 20200609 RGD mRNA:decreased expression:depression PMID:21223646|REF_RGD_ID:5684778 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29100083 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:769 neuroblastoma ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:20597685|PMID:22027236|REF_RGD_ID:5684547|REF_RGD_ID:5684898 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000106 Oculomotor Nerve Injuries ISO RGD:3213 D RGD:9068941 20200609 RGD mRNA:increased expression:motor neuron PMID:21456016|REF_RGD_ID:5684341 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:3213 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21603940|REF_RGD_ID:5684913 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:21193742|REF_RGD_ID:5684779 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:20557422|REF_RGD_ID:4891134 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002211 Hyperalgesia ISO RGD:11023 D RGD:9068941 20200609 RGD PMID:12470870|REF_RGD_ID:8657091 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002211 Hyperalgesia ISO RGD:3213 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: PMID:21958434|REF_RGD_ID:8657122 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002362 Hyperkinesis ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20826313|PMID:20947769 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002916 Hyperphagia ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15494731 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9002953 Escherichia Coli Infections onset ISO RGD:3213 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21411668|REF_RGD_ID:5684914 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9004354 Alcohol-Related Disorders ISO RGD:3213 D RGD:9068941 20240229 RGD protein:altered expression:brain PMID:15188276|PMID:15188277|REF_RGD_ID:401976554|REF_RGD_ID:401976555 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9005372 Inflammation ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:hindpaw: PMID:21958434|REF_RGD_ID:8657122 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20826313|PMID:20947769 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:731305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15494731 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:3213 D RGD:9068941 20200609 RGD PMID:20357199|REF_RGD_ID:5684908 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008520 Chronic Pain ISO RGD:3213 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, neuron PMID:11360665|REF_RGD_ID:5684922 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008582 Developmental Disease ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008733 Obesity, Hyperphagia, and Developmental Delay ISO RGD:731305 D RGD:7240710 20180130 OMIM 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9008733 Obesity, Hyperphagia, and Developmental Delay ISO RGD:731305 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NTRK2-related condition | ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay PMID:15494731|PMID:25741868|PMID:27884935|PMID:28492532|PMID:29100083 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9470 bacterial meningitis ISO RGD:11023 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:16141791|REF_RGD_ID:5684920 8842814 Ntrk2 neurotrophic receptor tyrosine kinase 2 gene DOID:9970 obesity ISO RGD:731305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 8842841 Ddx41 DEAD-box helicase 41 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1323380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8842841 Ddx41 DEAD-box helicase 41 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:25741868|PMID:26712909|PMID:27133828|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30963592|PMID:31484648|PMID:32098966|PMID:33585199 8842841 Ddx41 DEAD-box helicase 41 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1323380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8842841 Ddx41 DEAD-box helicase 41 gene DOID:12449 aplastic anemia ISO RGD:1323380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia 8842841 Ddx41 DEAD-box helicase 41 gene DOID:14748 Sotos syndrome ISO RGD:1323380 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8842841 Ddx41 DEAD-box helicase 41 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1323380 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DDX41-related condition | ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to PMID:17576681|PMID:25741868|PMID:25920683|PMID:26712909|PMID:27133828|PMID:27174803|PMID:27721487|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30407884|PMID:30963592|PMID:31256854|PMID:31470354|PMID:31484648|PMID:31713024|PMID:32054657|PMID:32098966|PMID:33585199|PMID:33626862|PMID:33850299|PMID:34492705|PMID:34671111|PMID:35443031|PMID:35671390|PMID:35844724|PMID:36322930|PMID:37199125|PMID:9536098 8842841 Ddx41 DEAD-box helicase 41 gene DOID:2226 myeloproliferative neoplasm susceptibility ISO RGD:1323380 D RGD:7240710 20230118 OMIM 8842841 Ddx41 DEAD-box helicase 41 gene DOID:4961 bone marrow disease ISO RGD:1323380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868|PMID:26712909|PMID:27133828|PMID:27795557|PMID:28492532|PMID:28547672|PMID:30963592|PMID:31484648|PMID:32054657|PMID:32098966|PMID:33585199 8842841 Ddx41 DEAD-box helicase 41 gene DOID:630 genetic disease ISO RGD:1323380 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26712909|PMID:27133828|PMID:28492532 8842841 Ddx41 DEAD-box helicase 41 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1323380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 8842841 Ddx41 DEAD-box helicase 41 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8842841 Ddx41 DEAD-box helicase 41 gene DOID:9119 acute myeloid leukemia ISO RGD:1323380 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Inherited acute myeloid leukemia PMID:25741868|PMID:25920683|PMID:26712909|PMID:27133828|PMID:28492532|PMID:28547672|PMID:30963592|PMID:33585199|PMID:35671390 8842862 Ncmap non-compact myelin associated protein gene DOID:630 genetic disease ISO RGD:1606072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842883 Gatd3 glutamine amidotransferase class 1 domain containing 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 8842883 Gatd3 glutamine amidotransferase class 1 domain containing 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8842883 Gatd3 glutamine amidotransferase class 1 domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8842883 Gatd3 glutamine amidotransferase class 1 domain containing 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343023 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8842883 Gatd3 glutamine amidotransferase class 1 domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8842883 Gatd3 glutamine amidotransferase class 1 domain containing 3 gene DOID:9263 homocystinuria ISO RGD:1343023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8842883 Gatd3 glutamine amidotransferase class 1 domain containing 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343023 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8842899 Babam1 BRISC and BRCA1 A complex member 1 gene DOID:630 genetic disease ISO RGD:1602893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842899 Babam1 BRISC and BRCA1 A complex member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852633 8842927 Grap2 GRB2 related adaptor protein 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8842927 Grap2 GRB2 related adaptor protein 2 gene DOID:1883 hepatitis C severity ISO RGD:1316895 D RGD:9068941 20210423 RGD DNA:SNP:intron: (human) PMID:15063762|REF_RGD_ID:126790487 8842927 Grap2 GRB2 related adaptor protein 2 gene DOID:630 genetic disease ISO RGD:1316895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842927 Grap2 GRB2 related adaptor protein 2 gene DOID:9007278 Anaphylaxis ameliorates ISO RGD:1552736 D RGD:9068941 20210423 RGD PMID:18664516|REF_RGD_ID:126790488 8842945 Abraxas2 abraxas 2, BRISC complex subunit gene DOID:630 genetic disease ISO RGD:1318962 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842992 Nol6 nucleolar protein 6 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8842992 Nol6 nucleolar protein 6 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317567 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8842992 Nol6 nucleolar protein 6 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8842992 Nol6 nucleolar protein 6 gene DOID:630 genetic disease ISO RGD:1317567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8842992 Nol6 nucleolar protein 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317567 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8842992 Nol6 nucleolar protein 6 gene DOID:9870 galactosemia ISO RGD:1317567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8843029 Nos2 nitric oxide synthase 2 gene DOID:0050152 aspiration pneumonia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15607125 8843029 Nos2 nitric oxide synthase 2 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10620138 8843029 Nos2 nitric oxide synthase 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:colon (rat) PMID:21958875|REF_RGD_ID:5508753 8843029 Nos2 nitric oxide synthase 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:730951 D RGD:9068941 20200609 RGD associated with obesity; protein:increased expression:sputum PMID:18098375|REF_RGD_ID:4891935 8843029 Nos2 nitric oxide synthase 2 gene DOID:0050848 obstructive sleep apnea severity ISO RGD:730951 D RGD:9068941 20200609 RGD protein:decreased expression, decreased phosphorylation:endothelial cell PMID:18413499|REF_RGD_ID:4891909 8843029 Nos2 nitric oxide synthase 2 gene DOID:0060001 withdrawal disorder ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19751225 8843029 Nos2 nitric oxide synthase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:730951 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8843029 Nos2 nitric oxide synthase 2 gene DOID:0060180 colitis ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:colon (mouse) PMID:21930116|REF_RGD_ID:5509045 8843029 Nos2 nitric oxide synthase 2 gene DOID:0060180 colitis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:16866779|REF_RGD_ID:4891411 8843029 Nos2 nitric oxide synthase 2 gene DOID:0060180 colitis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17449036|PMID:8698225 8843029 Nos2 nitric oxide synthase 2 gene DOID:0060496 respiratory allergy ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:19800904|REF_RGD_ID:4891497 8843029 Nos2 nitric oxide synthase 2 gene DOID:0060496 respiratory allergy treatment ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:21983654|REF_RGD_ID:8549812 8843029 Nos2 nitric oxide synthase 2 gene DOID:0080178 mucositis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:jejunum (rat) PMID:21846355|REF_RGD_ID:5509078 8843029 Nos2 nitric oxide synthase 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (mouse) PMID:21948338|REF_RGD_ID:5509578 8843029 Nos2 nitric oxide synthase 2 gene DOID:0080784 urinary tract infection ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9011564 8843029 Nos2 nitric oxide synthase 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased enzyme activity:pancreas PMID:15257108|REF_RGD_ID:2325241 8843029 Nos2 nitric oxide synthase 2 gene DOID:0081292 traumatic brain injury ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 8843029 Nos2 nitric oxide synthase 2 gene DOID:10112 sleeping sickness ISO RGD:3185 D RGD:9068941 20200609 RGD protein:altered activity:brain, peritoneal macrophage PMID:20169057|REF_RGD_ID:4891375 8843029 Nos2 nitric oxide synthase 2 gene DOID:10247 pleurisy ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:20141620|REF_RGD_ID:4142808 8843029 Nos2 nitric oxide synthase 2 gene DOID:10247 pleurisy ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:pleural cavity (rat) PMID:21898269|REF_RGD_ID:7175307 8843029 Nos2 nitric oxide synthase 2 gene DOID:10320 asbestosis ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:12160931|REF_RGD_ID:4891441 8843029 Nos2 nitric oxide synthase 2 gene DOID:10320 asbestosis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:12051993|REF_RGD_ID:4891438 8843029 Nos2 nitric oxide synthase 2 gene DOID:10320 asbestosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12160931 8843029 Nos2 nitric oxide synthase 2 gene DOID:10325 silicosis ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:15205031|REF_RGD_ID:4891445 8843029 Nos2 nitric oxide synthase 2 gene DOID:10325 silicosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292275 8843029 Nos2 nitric oxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:16908860|REF_RGD_ID:5508721 8843029 Nos2 nitric oxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:21163295|REF_RGD_ID:4891161 8843029 Nos2 nitric oxide synthase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730951 D RGD:9068941 20200609 RGD PMID:12384247|REF_RGD_ID:13824978 8843029 Nos2 nitric oxide synthase 2 gene DOID:1073 renal hypertension ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:20360752|REF_RGD_ID:4891374 8843029 Nos2 nitric oxide synthase 2 gene DOID:10754 otitis media ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Haemophilus Infections; mRNA, protein:increased expression:middle ear PMID:18524391|REF_RGD_ID:4891398 8843029 Nos2 nitric oxide synthase 2 gene DOID:10763 hypertension ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:kidney PMID:15773227|REF_RGD_ID:1580264 8843029 Nos2 nitric oxide synthase 2 gene DOID:10763 hypertension ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18605955|PMID:25101153|PMID:27292124 8843029 Nos2 nitric oxide synthase 2 gene DOID:10763 hypertension ISO RGD:730951 D RGD:9068941 20200609 RGD PMID:11702222|REF_RGD_ID:1298023 8843029 Nos2 nitric oxide synthase 2 gene DOID:10808 gastric ulcer ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12481160|PMID:15138204|PMID:19066340 8843029 Nos2 nitric oxide synthase 2 gene DOID:11044 gastroschisis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:intestine (rat) PMID:21960425|REF_RGD_ID:5508749 8843029 Nos2 nitric oxide synthase 2 gene DOID:11339 pneumocystosis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:alveolar macrophage PMID:20377877|REF_RGD_ID:4144112 8843029 Nos2 nitric oxide synthase 2 gene DOID:11339 pneumocystosis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:decreased dimerization:alveolar macrophage PMID:20558778|REF_RGD_ID:4891486 8843029 Nos2 nitric oxide synthase 2 gene DOID:11396 pulmonary edema ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:alveolus PMID:16256382|REF_RGD_ID:4891463 8843029 Nos2 nitric oxide synthase 2 gene DOID:11396 pulmonary edema ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:14767587|REF_RGD_ID:5132626 8843029 Nos2 nitric oxide synthase 2 gene DOID:11713 diabetic angiopathy ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19587355|REF_RGD_ID:2313210 8843029 Nos2 nitric oxide synthase 2 gene DOID:11713 diabetic angiopathy ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea PMID:19241604|REF_RGD_ID:4891384 8843029 Nos2 nitric oxide synthase 2 gene DOID:1176 bronchial disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15774269 8843029 Nos2 nitric oxide synthase 2 gene DOID:12217 Lewy body dementia ISO RGD:730951 D RGD:9068941 20200609 RGD PMID:10674474|REF_RGD_ID:1358529 8843029 Nos2 nitric oxide synthase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:brain (rat) PMID:21903766|REF_RGD_ID:5509055 8843029 Nos2 nitric oxide synthase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8843029 Nos2 nitric oxide synthase 2 gene DOID:12365 malaria ISO RGD:730951 D RGD:7240710 20230505 OMIM 8843029 Nos2 nitric oxide synthase 2 gene DOID:12365 malaria ISO RGD:730951 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, severe, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:12433515|PMID:31995689|PMID:9457101 8843029 Nos2 nitric oxide synthase 2 gene DOID:12849 autistic disorder ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18563708 8843029 Nos2 nitric oxide synthase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730951 D RGD:9068941 20230729 RGD mRNA:increased expression:endocardium PMID:15698596|REF_RGD_ID:329970287 8843029 Nos2 nitric oxide synthase 2 gene DOID:13025 retinopathy of prematurity ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:23204802|REF_RGD_ID:7257667 8843029 Nos2 nitric oxide synthase 2 gene DOID:1307 dementia ISO RGD:730951 D RGD:9068941 20200609 RGD PMID:10674474|REF_RGD_ID:1358529 8843029 Nos2 nitric oxide synthase 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423 8843029 Nos2 nitric oxide synthase 2 gene DOID:13141 uveitis ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:eye (mouse) PMID:21911582|REF_RGD_ID:5509582 8843029 Nos2 nitric oxide synthase 2 gene DOID:13406 pulmonary sarcoidosis ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11789718|REF_RGD_ID:4891449 8843029 Nos2 nitric oxide synthase 2 gene DOID:13413 hepatic encephalopathy ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19763802|REF_RGD_ID:5132590 8843029 Nos2 nitric oxide synthase 2 gene DOID:13548 secondary Parkinson disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25634431 8843029 Nos2 nitric oxide synthase 2 gene DOID:13580 cholestasis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12612912|PMID:20626112 8843029 Nos2 nitric oxide synthase 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8843029 Nos2 nitric oxide synthase 2 gene DOID:13949 interstitial cystitis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:bladder PMID:21179332|REF_RGD_ID:4891153 8843029 Nos2 nitric oxide synthase 2 gene DOID:1407 anterior uveitis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:eye (rat) PMID:21976127|REF_RGD_ID:5508734 8843029 Nos2 nitric oxide synthase 2 gene DOID:14115 toxic shock syndrome ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:16601845|REF_RGD_ID:1580268 8843029 Nos2 nitric oxide synthase 2 gene DOID:14115 toxic shock syndrome ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8745224 8843029 Nos2 nitric oxide synthase 2 gene DOID:14268 sclerosing cholangitis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12612912 8843029 Nos2 nitric oxide synthase 2 gene DOID:14323 Marfan syndrome ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 8843029 Nos2 nitric oxide synthase 2 gene DOID:14330 Parkinson's disease ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:striatum (mouse) PMID:21970803|REF_RGD_ID:5509573 8843029 Nos2 nitric oxide synthase 2 gene DOID:1459 hypothyroidism ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:cerebral cortex PMID:21196918|REF_RGD_ID:4891143 8843029 Nos2 nitric oxide synthase 2 gene DOID:1485 cystic fibrosis ISO RGD:730951 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:respiratory mucosa PMID:16517573|REF_RGD_ID:4891958 8843029 Nos2 nitric oxide synthase 2 gene DOID:1724 duodenal ulcer ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12481160|PMID:17045617 8843029 Nos2 nitric oxide synthase 2 gene DOID:1793 pancreatic cancer ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:15165031|REF_RGD_ID:2325248 8843029 Nos2 nitric oxide synthase 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:11196200|PMID:11687972|REF_RGD_ID:2325257|REF_RGD_ID:2325262 8843029 Nos2 nitric oxide synthase 2 gene DOID:1824 status epilepticus ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20149694 8843029 Nos2 nitric oxide synthase 2 gene DOID:1875 impotence ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:penis PMID:19554009|REF_RGD_ID:2313212 8843029 Nos2 nitric oxide synthase 2 gene DOID:1936 atherosclerosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 8843029 Nos2 nitric oxide synthase 2 gene DOID:2237 hepatitis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:21913985|REF_RGD_ID:6906896 8843029 Nos2 nitric oxide synthase 2 gene DOID:2316 brain ischemia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460|PMID:9778187 8843029 Nos2 nitric oxide synthase 2 gene DOID:234 colon adenocarcinoma ISO RGD:730951 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 8843029 Nos2 nitric oxide synthase 2 gene DOID:2508 Takayasu's arteritis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 8843029 Nos2 nitric oxide synthase 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:730951 D RGD:9068941 20200609 RGD associated with lung transplantation; protein:increased expression:lung PMID:11112135|REF_RGD_ID:4892082 8843029 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:16540403|REF_RGD_ID:4891957 8843029 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:lung (rat) PMID:21847581|REF_RGD_ID:5509073 8843029 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19800904 8843029 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:repeats:promoter PMID:18714530|REF_RGD_ID:4891508 8843029 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Rhinitis, Allergic, Seasonal; protein:increased expression:nasal mucosa PMID:18254476|REF_RGD_ID:4891910 8843029 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma ISO RGD:730951 D RGD:9068941 20200609 RGD mRNA:increased expression:monocyte PMID:20842520|REF_RGD_ID:4891419 8843029 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma disease_progression ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:lung, bronchoalveolar lavage fluid PMID:17161822|REF_RGD_ID:4891927 8843029 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma no_association ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:16703578|REF_RGD_ID:4891953 8843029 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma severity ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:20841959|REF_RGD_ID:4891480 8843029 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma severity ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.S608L (human) PMID:17177683|REF_RGD_ID:4891925 8843029 Nos2 nitric oxide synthase 2 gene DOID:2841 asthma severity ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:repeats:promoter, introns (human) PMID:17189532|REF_RGD_ID:4891924 8843029 Nos2 nitric oxide synthase 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:SNPs:multiple (human) PMID:19575238|REF_RGD_ID:4144122 8843029 Nos2 nitric oxide synthase 2 gene DOID:3021 acute kidney failure ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9810145 8843029 Nos2 nitric oxide synthase 2 gene DOID:3082 interstitial lung disease ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11789718|REF_RGD_ID:4891449 8843029 Nos2 nitric oxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21843929 8843029 Nos2 nitric oxide synthase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12797490|REF_RGD_ID:4891444 8843029 Nos2 nitric oxide synthase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (mouse) PMID:21867702|REF_RGD_ID:5509065 8843029 Nos2 nitric oxide synthase 2 gene DOID:3393 coronary artery disease ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome; protein:increased expression:neutrophil, monocyte PMID:14764920|REF_RGD_ID:1580941 8843029 Nos2 nitric oxide synthase 2 gene DOID:3491 Turner syndrome ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 8843029 Nos2 nitric oxide synthase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (mouse) PMID:22020035|REF_RGD_ID:5509037 8843029 Nos2 nitric oxide synthase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:21959178|REF_RGD_ID:5508751 8843029 Nos2 nitric oxide synthase 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:12660813|REF_RGD_ID:2325254 8843029 Nos2 nitric oxide synthase 2 gene DOID:3770 pulmonary fibrosis ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:20668217|REF_RGD_ID:4891482 8843029 Nos2 nitric oxide synthase 2 gene DOID:409 liver disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8843029 Nos2 nitric oxide synthase 2 gene DOID:4483 rhinitis ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:18254476|REF_RGD_ID:4891910 8843029 Nos2 nitric oxide synthase 2 gene DOID:4676 uremia ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:21957179|REF_RGD_ID:5508758 8843029 Nos2 nitric oxide synthase 2 gene DOID:4724 brain edema ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374494 8843029 Nos2 nitric oxide synthase 2 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 8843029 Nos2 nitric oxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 8843029 Nos2 nitric oxide synthase 2 gene DOID:4947 cholangiocarcinoma ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:16094703|REF_RGD_ID:2325280 8843029 Nos2 nitric oxide synthase 2 gene DOID:5199 ureteral obstruction ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 8843029 Nos2 nitric oxide synthase 2 gene DOID:5295 intestinal disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11713966 8843029 Nos2 nitric oxide synthase 2 gene DOID:557 kidney disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18441258 8843029 Nos2 nitric oxide synthase 2 gene DOID:5679 retinal disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 8843029 Nos2 nitric oxide synthase 2 gene DOID:5844 myocardial infarction ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10090345|PMID:11489778 8843029 Nos2 nitric oxide synthase 2 gene DOID:5844 myocardial infarction treatment ISO RGD:3185 D RGD:9068941 20230729 RGD PMID:26192027|REF_RGD_ID:329970290 8843029 Nos2 nitric oxide synthase 2 gene DOID:6000 congestive heart failure ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19168511 8843029 Nos2 nitric oxide synthase 2 gene DOID:607 paraplegia ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:Lumbar segment of spinal cord, bone marrow-derived macrophage (rat) PMID:21959174|REF_RGD_ID:5509577 8843029 Nos2 nitric oxide synthase 2 gene DOID:630 genetic disease ISO RGD:730951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843029 Nos2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:10996 D RGD:9068941 20200609 RGD associated with Anoxia; mouse gene in rat model PMID:11104748|REF_RGD_ID:4891468 8843029 Nos2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium PMID:16456243|REF_RGD_ID:1580940 8843029 Nos2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human) PMID:16813666|REF_RGD_ID:4891462 8843029 Nos2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730951 D RGD:9068941 20200609 RGD associated with heart disease; protein:increased expression:endothelial cell PMID:19912632|REF_RGD_ID:5132602 8843029 Nos2 nitric oxide synthase 2 gene DOID:6432 pulmonary hypertension onset ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Anoxia; protein:increased expression:pulmonary artery PMID:16113050|REF_RGD_ID:1580936 8843029 Nos2 nitric oxide synthase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3185 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 8843029 Nos2 nitric oxide synthase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16157314 8843029 Nos2 nitric oxide synthase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:aorta tunica media PMID:15800493|REF_RGD_ID:1580261 8843029 Nos2 nitric oxide synthase 2 gene DOID:841 extrinsic allergic alveolitis ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11789718|REF_RGD_ID:4891449 8843029 Nos2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:10996 D RGD:9068941 20200609 RGD lung injury associated with hyperoxia PMID:20497690|REF_RGD_ID:4891426 8843029 Nos2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:3185 D RGD:9068941 20200609 RGD acute lung injury associated with endotoxemia PMID:17324147|REF_RGD_ID:4891465 8843029 Nos2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Granuloma; protein:increased expression:lung PMID:8952535|REF_RGD_ID:4891457 8843029 Nos2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Hypertension, Portal; mRNA,protein:increased expression:lung PMID:11258566|REF_RGD_ID:4891454 8843029 Nos2 nitric oxide synthase 2 gene DOID:850 lung disease ISO RGD:3185 D RGD:9068941 20200609 RGD lung injury associated with Pancreatitis, Acute Necrotizing; mRNA:increased expression:lung PMID:20144956|REF_RGD_ID:4891432 8843029 Nos2 nitric oxide synthase 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923197 8843029 Nos2 nitric oxide synthase 2 gene DOID:8893 psoriasis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Gallbladder Diseases; protein:decreased expression:gllbladder PMID:14704000|REF_RGD_ID:2325251 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:14991947|REF_RGD_ID:2325250 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:altered expression:thoracic aorta PMID:17287083|REF_RGD_ID:4891407 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15264214 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:ileum, liver (rat) PMID:21975127|REF_RGD_ID:5508740 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000197 Edema ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased activity:serum (rat) PMID:22019508|REF_RGD_ID:5509038 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000304 Manganese Poisoning ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15010209|PMID:22174044 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:3185 D RGD:9068941 20200609 RGD protein:Increased expression:kidney:neutrophil, endothelial cell, kidney: PMID:10908153|REF_RGD_ID:11533936 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:brainstem, basilar artery (mouse) PMID:21915076|REF_RGD_ID:5509046 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17053178 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:17607157|REF_RGD_ID:4891947 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3185 D RGD:9068941 20200609 RGD associated with reperfusion injury; mRNA:increased expression:lung PMID:20430162|REF_RGD_ID:4891490 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:lung, respiratory tract PMID:11076311|REF_RGD_ID:4892083 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19286931|REF_RGD_ID:5132864 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10996 D RGD:9068941 20200609 RGD associated with Carcinoma, Pancreatic Ductal PMID:12660813|REF_RGD_ID:2325254 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Carcinoma, Pancreatic Ductal; protein:increased expression:pancreas PMID:15222037|REF_RGD_ID:2325242 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:730951 D RGD:9068941 20200609 RGD associated with Gallbladder Neoplasms: protein:increased expression:gallbladder PMID:14991947|REF_RGD_ID:2325250 8843029 Nos2 nitric oxide synthase 2 gene DOID:9000998 Brain Injuries ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:11526986|REF_RGD_ID:10395358 8843029 Nos2 nitric oxide synthase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:repeats:promoter PMID:18714530|REF_RGD_ID:4891508 8843029 Nos2 nitric oxide synthase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730951 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa PMID:20554417|REF_RGD_ID:5509597 8843029 Nos2 nitric oxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:17030871|REF_RGD_ID:4891952 8843029 Nos2 nitric oxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain PMID:18080188|REF_RGD_ID:4891937 8843029 Nos2 nitric oxide synthase 2 gene DOID:9001488 Human Influenza ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:olfactory epithelium PMID:17674769|REF_RGD_ID:4891919 8843029 Nos2 nitric oxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:10353629|REF_RGD_ID:2325278 8843029 Nos2 nitric oxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:10784593|REF_RGD_ID:2325265 8843029 Nos2 nitric oxide synthase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18380797 8843029 Nos2 nitric oxide synthase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:10383909|REF_RGD_ID:2325277 8843029 Nos2 nitric oxide synthase 2 gene DOID:9001708 Hemorrhagic Shock ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple PMID:15854664|REF_RGD_ID:1580937 8843029 Nos2 nitric oxide synthase 2 gene DOID:9001984 Fetal Diseases ISO RGD:10996 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19283362|REF_RGD_ID:2313217 8843029 Nos2 nitric oxide synthase 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:17056580|REF_RGD_ID:4891950 8843029 Nos2 nitric oxide synthase 2 gene DOID:9002211 Hyperalgesia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989504|PMID:19300402 8843029 Nos2 nitric oxide synthase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3185 D RGD:9068941 20200609 RGD associated with hyperinsulinemia; protein:increased expression:placenta PMID:19709742|REF_RGD_ID:5132592 8843029 Nos2 nitric oxide synthase 2 gene DOID:9002395 Hypothermia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24675228 8843029 Nos2 nitric oxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:ankle joint (mouse) PMID:21880869|REF_RGD_ID:5509060 8843029 Nos2 nitric oxide synthase 2 gene DOID:9002457 Experimental Arthritis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:12826065|REF_RGD_ID:1358527 8843029 Nos2 nitric oxide synthase 2 gene DOID:9002467 Mycoplasma Infections ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179380 8843029 Nos2 nitric oxide synthase 2 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19587355 8843029 Nos2 nitric oxide synthase 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:21857957|REF_RGD_ID:5509069 8843029 Nos2 nitric oxide synthase 2 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9673227 8843029 Nos2 nitric oxide synthase 2 gene DOID:9002884 Emphysema ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24465666 8843029 Nos2 nitric oxide synthase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16105666|PMID:21081470 8843029 Nos2 nitric oxide synthase 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:14587983|REF_RGD_ID:4892078 8843029 Nos2 nitric oxide synthase 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23694759 8843029 Nos2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:venule, arteriole, endothelium (mouse) PMID:22019501|REF_RGD_ID:5509100 8843029 Nos2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:14599979|REF_RGD_ID:1580938 8843029 Nos2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11592783|REF_RGD_ID:2325259 8843029 Nos2 nitric oxide synthase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10383581|PMID:19673871|PMID:23061969|PMID:23075401 8843029 Nos2 nitric oxide synthase 2 gene DOID:9004250 Hepatic Insufficiency ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8843029 Nos2 nitric oxide synthase 2 gene DOID:9004484 Sepsis ISO RGD:10996 D RGD:9068941 20200609 RGD associated with lung injury PMID:21184738|REF_RGD_ID:4891414 8843029 Nos2 nitric oxide synthase 2 gene DOID:9004484 Sepsis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:15665729|REF_RGD_ID:5147745 8843029 Nos2 nitric oxide synthase 2 gene DOID:9004484 Sepsis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17138957|PMID:20035746 8843029 Nos2 nitric oxide synthase 2 gene DOID:9004590 Acute Liver Failure ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:22001939|REF_RGD_ID:5509102 8843029 Nos2 nitric oxide synthase 2 gene DOID:9004610 Acute Lung Injury ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:16882535|REF_RGD_ID:5147744 8843029 Nos2 nitric oxide synthase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12460898|PMID:22369883 8843029 Nos2 nitric oxide synthase 2 gene DOID:9005369 Hepatomegaly ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8843029 Nos2 nitric oxide synthase 2 gene DOID:9005372 Inflammation ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11289658|PMID:24465666 8843029 Nos2 nitric oxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3185 D RGD:9068941 20200609 RGD associated with Infarction, Middle Cerebral Artery; protein:increased expression:brain (rat) PMID:21993016|REF_RGD_ID:5509105 8843029 Nos2 nitric oxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16380483|PMID:16959961 8843029 Nos2 nitric oxide synthase 2 gene DOID:9005643 Experimental Diabetes Mellitus no_association ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:9349594|REF_RGD_ID:5509107 8843029 Nos2 nitric oxide synthase 2 gene DOID:9005724 Fungal Lung Diseases ISO RGD:3185 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10639453|REF_RGD_ID:4891455 8843029 Nos2 nitric oxide synthase 2 gene DOID:9005749 Necrosis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10620138|PMID:10909967 8843029 Nos2 nitric oxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:20519137|REF_RGD_ID:5147779 8843029 Nos2 nitric oxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:intestine PMID:16787348|REF_RGD_ID:4891470 8843029 Nos2 nitric oxide synthase 2 gene DOID:9005930 Endotoxemia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12620498 8843029 Nos2 nitric oxide synthase 2 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3185 D RGD:9068941 20230727 RGD PMID:18408363|REF_RGD_ID:11040540 8843029 Nos2 nitric oxide synthase 2 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:nerve root, leukocyte, Schwann cell (rat) PMID:15144861|REF_RGD_ID:1580265 8843029 Nos2 nitric oxide synthase 2 gene DOID:9006741 Acute Hepatitis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:21913985|REF_RGD_ID:6906896 8843029 Nos2 nitric oxide synthase 2 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:SNP: :rs1060826(human) PMID:17703412|REF_RGD_ID:4889847 8843029 Nos2 nitric oxide synthase 2 gene DOID:9006956 nephrotoxicity treatment ISO RGD:3185 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8843029 Nos2 nitric oxide synthase 2 gene DOID:9007096 Stroke ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:21171972|REF_RGD_ID:4891154 8843029 Nos2 nitric oxide synthase 2 gene DOID:9007096 Stroke ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 8843029 Nos2 nitric oxide synthase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14700523 8843029 Nos2 nitric oxide synthase 2 gene DOID:9007651 Chronic Bronchitis ISO RGD:3185 D RGD:9068941 20200609 RGD PMID:19938219|REF_RGD_ID:4891494 8843029 Nos2 nitric oxide synthase 2 gene DOID:9007692 Insulin Resistance ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:21846719|REF_RGD_ID:5509075 8843029 Nos2 nitric oxide synthase 2 gene DOID:9007692 Insulin Resistance ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat) PMID:22023455|REF_RGD_ID:5509041 8843029 Nos2 nitric oxide synthase 2 gene DOID:9007730 Burns ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650120 8843029 Nos2 nitric oxide synthase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3185 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (rat) PMID:21844074|REF_RGD_ID:5509098 8843029 Nos2 nitric oxide synthase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12003803|PMID:12087064|PMID:14990356|PMID:19207477|PMID:20828608 8843029 Nos2 nitric oxide synthase 2 gene DOID:9008 psoriatic arthritis ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 8843029 Nos2 nitric oxide synthase 2 gene DOID:9008510 Chronic Hepatitis ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:21947361|REF_RGD_ID:5509580 8843029 Nos2 nitric oxide synthase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15631943 8843029 Nos2 nitric oxide synthase 2 gene DOID:9009039 Hyperemia ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12646421 8843029 Nos2 nitric oxide synthase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow macrophage (mouse) PMID:22011580|REF_RGD_ID:5508848 8843029 Nos2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:liver (mouse) PMID:21963495|REF_RGD_ID:5508747 8843029 Nos2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18773271|REF_RGD_ID:2313220 8843029 Nos2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961 8843029 Nos2 nitric oxide synthase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730951 D RGD:9068941 20200609 RGD DNA:insertion/deletion, repeat:promoter (human) PMID:19395279|REF_RGD_ID:2312484 8843029 Nos2 nitric oxide synthase 2 gene DOID:9498 pulmonary eosinophilia ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:18829681|REF_RGD_ID:4891506 8843029 Nos2 nitric oxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:22000010|REF_RGD_ID:5509103 8843029 Nos2 nitric oxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:10996 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:20956973|REF_RGD_ID:4891415 8843029 Nos2 nitric oxide synthase 2 gene DOID:9675 pulmonary emphysema ISO RGD:3185 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20472710|REF_RGD_ID:4891488 8843029 Nos2 nitric oxide synthase 2 gene DOID:9743 diabetic neuropathy ISO RGD:10996 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18802679|REF_RGD_ID:2313218 8843029 Nos2 nitric oxide synthase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10996 D RGD:9068941 20200609 RGD PMID:19535454|REF_RGD_ID:2313214 8843029 Nos2 nitric oxide synthase 2 gene DOID:9767 myocardial stunning ISO RGD:730951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11927517 8843029 Nos2 nitric oxide synthase 2 gene DOID:9970 obesity ISO RGD:10996 D RGD:9068941 20200609 RGD protein:increased expression:liver, gastrocnemius muscle, adipose tissue (mouse) PMID:21896669|REF_RGD_ID:5509059 8843029 Nos2 nitric oxide synthase 2 gene DOID:9970 obesity ISO RGD:730951 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:18098375|REF_RGD_ID:4891935 8843061 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1316979 D RGD:9068941 20240321 RGD DNA:mutations:multiple (human) PMID:17033622|REF_RGD_ID:11252107 8843061 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1316979 D RGD:9068941 20240321 RGD DNA:snp:3' utr:C>A (rs7220740) (human) PMID:19536649|REF_RGD_ID:11252100 8843061 BRIP1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1316979 D RGD:9068941 20240321 RGD DNA:snps, haplotype:introns:c.1935+977T>C, c.1473+3729A>G, c.1340+109G>A (rs11871753, rs16945628, rs2191248) (human) PMID:23357080|REF_RGD_ID:11252109 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1316979 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B PMID:25741868|PMID:28492532|PMID:29485843 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:1316979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32068069|PMID:32359370|PMID:32885271|PMID:33471991|PMID:3375802|PMID:34026625|PMID:34585738|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1316979 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:28492532|PMID:32091409|PMID:33471991 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1316979 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:7240710 20240320 OMIM 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group J PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28640387|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28991257|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29485843|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30716324|PMID:30728895|PMID:30833958|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31794323|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32371905|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33028645|PMID:33115781|PMID:33120919|PMID:33134171|PMID:33224012|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:3375802|PMID:33804961|PMID:33840814|PMID:33842585|PMID:33980423|PMID:34011307 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:0111097 Fanconi anemia complementation group J ISO RGD:1316979 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group J PMID:34026625|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34503154|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34607609|PMID:34646395|PMID:34887416|PMID:35022142|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35739278|PMID:35957908|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36243179|PMID:36315513|PMID:36338706|PMID:36627197|PMID:36845387|PMID:36896836|PMID:36988593|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:10534 stomach cancer ISO RGD:1316979 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19339519|PMID:19763819|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:22792074|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25646469|PMID:25741868|PMID:25877891|PMID:25980754|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:27498913|PMID:28492532|PMID:28495237|PMID:28888541|PMID:29338689|PMID:29368626|PMID:29752822|PMID:29922827|PMID:30792206|PMID:30982232|PMID:31214711|PMID:31742824|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32885271|PMID:32980694|PMID:33313162|PMID:33413596|PMID:33471991|PMID:33619228|PMID:34026625|PMID:34308104|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35118230|PMID:35171259|PMID:35273153|PMID:35986085|PMID:36243179|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:10534 stomach cancer ISO RGD:1316979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:11301010|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19339519|PMID:19763819|PMID:20068231|PMID:20159562|PMID:20173781|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:22792074|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25646469|PMID:25741868|PMID:25877891|PMID:25980754|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:27498913|PMID:28492532|PMID:28495237|PMID:28888541|PMID:29338689|PMID:29368626|PMID:29752822|PMID:29922827|PMID:30792206|PMID:30982232|PMID:31214711|PMID:31742824|PMID:32068069|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32885271|PMID:32980694|PMID:33313162|PMID:33413596|PMID:33471991|PMID:33619228|PMID:3375802|PMID:33842585|PMID:34026625|PMID:34308104|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35118230|PMID:35171259|PMID:35273153|PMID:35986085|PMID:36243179|PMID:36627197|PMID:36630951|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1316979 D RGD:9068941 20200609 RGD associated with Down Syndrome;protein:increased ubiquitination:frontal cortex (human) PMID:25391381|REF_RGD_ID:11252150 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:11372 megacolon ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:13636 Fanconi anemia ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:13636 Fanconi anemia ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:13636 Fanconi anemia ISO RGD:1316979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32068069|PMID:32359370|PMID:32885271|PMID:33471991|PMID:3375802|PMID:34026625|PMID:34585738|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:14250 Down syndrome ISO RGD:1316979 D RGD:9068941 20200609 RGD protein:increased ubiquitination:frontal cortex (human) PMID:25391381|REF_RGD_ID:11252150 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:1520 colon carcinoma ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:16116423|PMID:16280053|PMID:17033622|PMID:18483852|PMID:21964575|PMID:22264603|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26709662|PMID:26790966|PMID:27107905|PMID:27165003|PMID:27471560|PMID:28492532|PMID:30256826|PMID:30306255|PMID:31214711|PMID:31366178|PMID:31786208 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:1588 thrombocytopenia ISO RGD:1316979 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:15613547|REF_RGD_ID:11252148 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:7240710 20240320 OMIM 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23644138|PMID:23935105|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27378695|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29625052|PMID:29641532|PMID:29922827|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31214711|PMID:31265121|PMID:31300551|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32959997|PMID:33471991|PMID:33619228|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27378695|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33619228|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27378695|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:34026625|PMID:34284872|PMID:34585738|PMID:35467778|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33980423|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:34646395|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36988593|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30613976|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33980423|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:34646395|PMID:35118230|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36243179|PMID:36988593|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer ISO RGD:1316979 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20173781|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23555315|PMID:23644138|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25722345|PMID:25741868|PMID:25980754|PMID:26140431|PMID:26206375|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28202063|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29335925|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30230034|PMID:30254378|PMID:30262796|PMID:30264118|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31300551|PMID:31422574|PMID:31512090|PMID:31589614|PMID:31642931|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32068069|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33115781|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:3375802|PMID:33980423|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34326862|PMID:34585738|PMID:34646395|PMID:35118230|PMID:35205822|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35986085|PMID:36035419|PMID:36243179|PMID:36315513|PMID:36623239|PMID:36896836|PMID:36988593|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:1612 breast cancer onset ISO RGD:1316979 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.P47A, p.M299I (human) PMID:11301010|REF_RGD_ID:1600525 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:2394 ovarian cancer ISO RGD:1316979 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian Cancers | ClinVar Annotator: match by term: Ovarian cancer PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21964575|PMID:22006311|PMID:23555315|PMID:24240112|PMID:2455662|PMID:24556621|PMID:24728327|PMID:25186627|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26968956|PMID:27179029|PMID:27498913|PMID:28492532|PMID:28495237|PMID:28888541|PMID:29368626|PMID:29470806|PMID:29922827|PMID:29929473|PMID:29958926|PMID:30093976|PMID:30322717|PMID:30982232|PMID:31214711|PMID:31341520|PMID:31666926|PMID:32068069|PMID:32091409|PMID:32295079|PMID:32359370|PMID:32566746|PMID:32885271|PMID:33313162|PMID:33471991|PMID:33619228|PMID:3375802|PMID:33842585|PMID:34026625|PMID:34326862|PMID:34585738|PMID:36627197|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:3459 breast carcinoma ISO RGD:1316979 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:11301010|PMID:12872252|PMID:14983014|PMID:16116423|PMID:16199547|PMID:17033622|PMID:18628483|PMID:19935797|PMID:20159562|PMID:20173781|PMID:21127055|PMID:21345144|PMID:21964575|PMID:22792074|PMID:23555315|PMID:24728327|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26921362|PMID:28135145|PMID:28423363|PMID:28492532|PMID:28767289|PMID:28961279|PMID:29368626|PMID:29566657|PMID:29641532|PMID:30322717|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31300551|PMID:31325073|PMID:31742824|PMID:32283892|PMID:32658311|PMID:32659497|PMID:32885271|PMID:33471991|PMID:33840814|PMID:34284872|PMID:35467778 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1316979 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix, nucleus (human) PMID:24708616|REF_RGD_ID:11252104 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:4362 cervical cancer ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cervical cancer PMID:18483852|PMID:25741868|PMID:26467025|PMID:26790966|PMID:28492532|PMID:31214711|PMID:32566746 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:4905 pancreatic carcinoma ISO RGD:1316979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:16116423|PMID:17033622|PMID:21964575|PMID:25330149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28888541|PMID:29961768|PMID:30680046|PMID:31173646|PMID:31512090|PMID:31589614|PMID:32295079|PMID:32885271|PMID:33471991 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29368626|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31558676|PMID:31666926|PMID:31822495|PMID:31844177|PMID:31871109|PMID:32019284|PMID:32295079|PMID:32359370|PMID:32566746|PMID:32959997|PMID:33309985|PMID:33471991 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29368626|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31558676|PMID:31586946|PMID:31666926|PMID:31822495|PMID:31844177|PMID:31871109|PMID:32019284|PMID:32295079|PMID:32359370|PMID:32566746|PMID:32959997|PMID:33309985|PMID:33471991|PMID:33619228|PMID:35039564 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33619228|PMID:35039564 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18628483|PMID:19127258|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23613520|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25452441|PMID:25503501|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31325073|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33840814|PMID:35039564 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33840814|PMID:34585738|PMID:35039564 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33840814|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33840814|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12565990|PMID:12569564|PMID:12872252|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17342202|PMID:18414782|PMID:18483852|PMID:18510924|PMID:18628483|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26207792|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26824983|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30728895|PMID:30792206|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35205822|PMID:35467778|PMID:35734982 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30728895|PMID:30792206|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30728895|PMID:30792206|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30651582|PMID:30728895|PMID:30792206|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35118230|PMID:35205822|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36243179|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30612635|PMID:30651582|PMID:30728895|PMID:30792206|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33115781|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34570441|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35467778|PMID:35734982|PMID:35957908|PMID:35986085|PMID:36243179|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316979 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20177395|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23276657|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24763289|PMID:24895130|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28888541|PMID:28911102|PMID:29053726|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30254378|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30612635|PMID:30651582|PMID:30680046|PMID:30728895|PMID:30792206|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31325073|PMID:31341520|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31822495|PMID:31844177|PMID:31871109|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32885271|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33008098|PMID:33028645|PMID:33115781|PMID:33120919|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:3375802|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34072463|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34570441|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35957908|PMID:35986085|PMID:36011273|PMID:36243179|PMID:36451132|PMID:36630951|PMID:36896836|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:630 genetic disease ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1316979 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18628483|PMID:18978354|PMID:19127258|PMID:19197335|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20177395|PMID:20639400|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22792074|PMID:23161009|PMID:23555315|PMID:23644138|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24448499|PMID:2455662|PMID:24556621|PMID:24584348|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25452441|PMID:25722345|PMID:25741868|PMID:25807282|PMID:25980754|PMID:25981591|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26845104|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27153395|PMID:27179029|PMID:27443514|PMID:27462233|PMID:27498913|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28767289|PMID:28796317|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28991257|PMID:29053726|PMID:29368626|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29788478|PMID:29922827|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30295334|PMID:30322717|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30612635|PMID:30651582|PMID:30680046|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31589614|PMID:31742824|PMID:31822495|PMID:31843900|PMID:31871109|PMID:31980526|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32866190|PMID:32885271|PMID:32959997|PMID:33028645|PMID:33115781|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:3375802|PMID:33804961|PMID:33842585|PMID:33980423|PMID:34026625|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34570441|PMID:34585738|PMID:34646395|PMID:34887416|PMID:35022142|PMID:35118230|PMID:35205822|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35986085|PMID:36243179|PMID:36315513|PMID:36627197|PMID:36845387|PMID:36896836|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:1316979 D RGD:9068941 20200609 RGD DNA:snps:introns:c.2158-13912A>C, c.508-31C>G (rs2191249,rs4988344) (human) PMID:17342202|REF_RGD_ID:11251782 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:1316979 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:16116424|PMID:16116426|PMID:16973432|PMID:18510924|PMID:19099189|PMID:19150983|PMID:19379763|PMID:19442249|PMID:19519404|PMID:20639400|PMID:20980836|PMID:21345144|PMID:22024395|PMID:22287629|PMID:22582397|PMID:23161009|PMID:23276657|PMID:23644138|PMID:23935105|PMID:24448499|PMID:24487782|PMID:24573678|PMID:24728327|PMID:24895130|PMID:25374583|PMID:25583461|PMID:25741868|PMID:26315354|PMID:26596371|PMID:26689913|PMID:26790966|PMID:26921362|PMID:27107905|PMID:28492532|PMID:28911102|PMID:29922827|PMID:30322717|PMID:31265121|PMID:31341520|PMID:31822495|PMID:32427313|PMID:32542039|PMID:33028645|PMID:33471991|PMID:33619228|PMID:34585738 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1307659 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:24748974|REF_RGD_ID:10755718 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29020732|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29515789|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30230034|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30651582|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31666926|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32231423|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32959997|PMID:33309985|PMID:33471991|PMID:33804961|PMID:34204722|PMID:34299313|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25846551|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28888541|PMID:28911102|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30230034|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30651582|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31666926|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:32019284|PMID:32091409|PMID:32231423|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32659497|PMID:32959997|PMID:33028645|PMID:33309985|PMID:33471991|PMID:33619228|PMID:33804961|PMID:34011307|PMID:34204722|PMID:34299313|PMID:35039564|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25846551|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32659497|PMID:32866190|PMID:32885271|PMID:32959997|PMID:32980694|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33359728|PMID:33471991|PMID:33552952|PMID:33619228|PMID:33804961|PMID:34011307|PMID:34034685|PMID:34204722|PMID:34299313|PMID:35039564|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27378695|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29485843|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33804961|PMID:33840814|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35402282|PMID:35467778|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27854218|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34607609|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35402282|PMID:35467778|PMID:35734982|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34284872|PMID:34299313|PMID:34585738|PMID:34607609|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35402282|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36200007|PMID:36988593|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34250417|PMID:34284872|PMID:34299313|PMID:34585473|PMID:34585738|PMID:34607609|PMID:34646395|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34897210|PMID:35039564|PMID:35118230|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35734982|PMID:35986085|PMID:36169650|PMID:36200007|PMID:36243179|PMID:36988593|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569743|PMID:28640387|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29485843|PMID:29515789|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31794323|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32371905|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32542039|PMID:32566746|PMID:32658311 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:33008098|PMID:33028645|PMID:33115781|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33606809|PMID:33619228|PMID:33646313|PMID:33804961|PMID:33840814|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34250417|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34607609|PMID:34646395|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35734982|PMID:35739278|PMID:35957908|PMID:35986085|PMID:36169650|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36845387|PMID:36988593|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11301010|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20177395|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569743|PMID:28640387|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29485843|PMID:29507082|PMID:29515789|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30833958|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31794323|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32371905|PMID:32426482|PMID:32427313 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316979 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32522261|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33008098|PMID:33028645|PMID:33115781|PMID:33120919|PMID:33134171|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33619228|PMID:33646313|PMID:3375802|PMID:33804961|PMID:33840814|PMID:33842585|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34250417|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34503154|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34607609|PMID:34646395|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35739278|PMID:35957908|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36169650|PMID:36200007|PMID:36243179|PMID:36315097|PMID:36315513|PMID:36338706|PMID:36451132|PMID:36623239|PMID:36627197|PMID:36630951|PMID:36833355|PMID:36845387|PMID:36896836|PMID:36988593|PMID:37306523|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007480 Hyperoxia ISO RGD:1550783 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:18948842|REF_RGD_ID:11252154 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9007482 Bone Metastasis ISO RGD:1316979 D RGD:9068941 20200609 RGD associated with Breast Neoplasms; human gene in a mouse model PMID:22875853|REF_RGD_ID:11252149 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1316979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:29368626|PMID:32068069|PMID:32359370|PMID:32885271|PMID:33471991|PMID:3375802|PMID:34026625|PMID:34585738|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316979 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:28961279|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:28961279|PMID:29368626|PMID:32359370|PMID:32885271|PMID:33471991|PMID:34026625|PMID:34585738|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:16116421|PMID:16116423|PMID:16116424|PMID:16153896|PMID:17033622|PMID:18978354|PMID:19127258|PMID:19763819|PMID:20177395|PMID:20639400|PMID:21165771|PMID:21345144|PMID:21964575|PMID:22006311|PMID:24240112|PMID:2455662|PMID:24556621|PMID:25741868|PMID:25980754|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26822949|PMID:26845104|PMID:26921362|PMID:26968956|PMID:27179029|PMID:28492532|PMID:28961279|PMID:29368626|PMID:29566657|PMID:31742824|PMID:32068069|PMID:32359370|PMID:32885271|PMID:33471991|PMID:3375802|PMID:34026625|PMID:34585738|PMID:36988593 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:11301010|PMID:11865300|PMID:12565990|PMID:12569564|PMID:12872252|PMID:14576433|PMID:14983014|PMID:15125843|PMID:15285897|PMID:16116421|PMID:16116423|PMID:16116424|PMID:16116426|PMID:16153896|PMID:16199547|PMID:16280053|PMID:16430786|PMID:16973432|PMID:17033622|PMID:17145708|PMID:17342202|PMID:17576681|PMID:17596542|PMID:18414782|PMID:18426915|PMID:18483852|PMID:18510924|PMID:18628483|PMID:18978354|PMID:19099189|PMID:19127258|PMID:19150983|PMID:19197335|PMID:19339519|PMID:19379763|PMID:19442249|PMID:19519404|PMID:19584272|PMID:19763152|PMID:19763819|PMID:19935797|PMID:20068231|PMID:20159562|PMID:20168331|PMID:20173781|PMID:20177395|PMID:20307669|PMID:20346647|PMID:20616022|PMID:20639400|PMID:20980836|PMID:21127055|PMID:21165771|PMID:21279724|PMID:21345144|PMID:21356067|PMID:21398687|PMID:21409391|PMID:21964575|PMID:22006311|PMID:22024395|PMID:22264603|PMID:22287629|PMID:22406018|PMID:22582397|PMID:22692731|PMID:22792074|PMID:23161009|PMID:23242139|PMID:23276657|PMID:23285130|PMID:23320739|PMID:23555315|PMID:23613520|PMID:23644138|PMID:23935105|PMID:24033266|PMID:24123366|PMID:24240112|PMID:24376576|PMID:24448499|PMID:24487782|PMID:2455662|PMID:24556621|PMID:24573678|PMID:24584348|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24895130|PMID:25058500|PMID:25186627|PMID:25256751|PMID:25318351|PMID:25330149|PMID:25374583|PMID:25401301|PMID:25452441|PMID:25503501|PMID:25583461|PMID:25589621|PMID:25640679|PMID:25646469|PMID:25722345|PMID:25741868|PMID:25783483|PMID:25807282|PMID:25846551|PMID:25877891|PMID:25980754|PMID:25981591|PMID:26140431|PMID:26206375|PMID:26207792|PMID:26264438|PMID:26270727|PMID:26296696|PMID:26315354|PMID:26416542|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26596371|PMID:26635394|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26691941|PMID:26709662|PMID:26720728|PMID:26757417|PMID:26786923|PMID:26790966|PMID:26822149|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26901136|PMID:26911350|PMID:26921362|PMID:26968956|PMID:26976419|PMID:27074266|PMID:27107905|PMID:27150160|PMID:27153395|PMID:27165003|PMID:27179029|PMID:27193682|PMID:27427815|PMID:27433846|PMID:27443514|PMID:27458550|PMID:27462233|PMID:27471560|PMID:27498913|PMID:27527004|PMID:27547810|PMID:27553368|PMID:27621404|PMID:27701467|PMID:27878467|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28195569|PMID:28202063|PMID:28300276|PMID:28423363|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569743|PMID:28640387|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28767289|PMID:28783718|PMID:28796317|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28911102|PMID:28961279|PMID:28991257|PMID:29020732|PMID:29053726|PMID:29263802|PMID:29335925|PMID:29338072|PMID:29338689|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29368626|PMID:29470806|PMID:29478780|PMID:29485843|PMID:29507082|PMID:29515789|PMID:29566657|PMID:29596542|PMID:29625052|PMID:29636988|PMID:29641532|PMID:29667044|PMID:29752822|PMID:29788478|PMID:29922827|PMID:29929473|PMID:29958926|PMID:29961768|PMID:30031030|PMID:30086788|PMID:30093976|PMID:30130155|PMID:30154229|PMID:30230034|PMID:30254378|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30267214|PMID:30295334|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30414346|PMID:30426508|PMID:30441849|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30716324|PMID:30728895|PMID:30792206|PMID:30809968|PMID:30833958|PMID:30914433|PMID:30982232|PMID:30998136|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31269945|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31366178|PMID:31422574|PMID:31512090|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31742824|PMID:31786208|PMID:31794323|PMID:31822495|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31970404|PMID:31980526|PMID:32019284|PMID:32068069 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316979 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:32091409|PMID:32231423|PMID:32242007|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32371905|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32542039|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33008098|PMID:33028645|PMID:33115781|PMID:33120919|PMID:33134171|PMID:33224012|PMID:33309985|PMID:33313162|PMID:33359728|PMID:33413596|PMID:33471991|PMID:33546375|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33619228|PMID:33646313|PMID:3375802|PMID:33804961|PMID:33840814|PMID:33842585|PMID:33980423|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072463|PMID:34204722|PMID:34250417|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34503154|PMID:34570441|PMID:34585473|PMID:34585738|PMID:34607609|PMID:34646395|PMID:34653963|PMID:34754157|PMID:34793666|PMID:34887416|PMID:34897210|PMID:35022142|PMID:35039564|PMID:35118230|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35205822|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35534704|PMID:35734982|PMID:35739278|PMID:35957908|PMID:35986085|PMID:36011273|PMID:36035419|PMID:36169650|PMID:36200007|PMID:36243179|PMID:36315097|PMID:36315513|PMID:36338706|PMID:36451132|PMID:36623239|PMID:36627197|PMID:36630951|PMID:36833355|PMID:36845387|PMID:36896836|PMID:36988593|PMID:37306523|PMID:9536098 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9256 colorectal cancer ISO RGD:1316979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:30809968 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9256 colorectal cancer severity ISO RGD:1316979 D RGD:9068941 20200609 RGD mRNA:increased expression:colon epithelium (human) PMID:22526901|REF_RGD_ID:11252117 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1316979 D RGD:9068941 20200609 RGD DNA:frameshift mutation:cds:p.N568fsX9 (human) PMID:27165003|REF_RGD_ID:11252105 8843061 Brip1 BRCA1 interacting helicase 1 gene DOID:9460 uterine corpus cancer ISO RGD:1316979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:16116423|PMID:17033622|PMID:21964575|PMID:24728327|PMID:25452441|PMID:25741868|PMID:25807282|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26845104|PMID:26921362|PMID:28492532|PMID:30254378|PMID:32295079|PMID:33471991 8843091 Rnf44 ring finger protein 44 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1316271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8843091 Rnf44 ring finger protein 44 gene DOID:14748 Sotos syndrome ISO RGD:1316271 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8843091 Rnf44 ring finger protein 44 gene DOID:630 genetic disease ISO RGD:1316271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843091 Rnf44 ring finger protein 44 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8843091 Rnf44 ring finger protein 44 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1316271 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8843136 Lst1 leukocyte specific transcript 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8843136 Lst1 leukocyte specific transcript 1 gene DOID:0081267 graft-versus-host disease ISO RGD:1350273 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS3dupGA (human) PMID:9808588|REF_RGD_ID:2316565 8843136 Lst1 leukocyte specific transcript 1 gene DOID:11372 megacolon ISO RGD:1350273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8843136 Lst1 leukocyte specific transcript 1 gene DOID:630 genetic disease ISO RGD:1350273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843136 Lst1 leukocyte specific transcript 1 gene DOID:9005372 Inflammation severity ISO RGD:1350273 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid; mRNA:increased expression:synovium (human) PMID:16362817|REF_RGD_ID:2316570 8843145 Marchf1 membrane associated ring-CH-type finger 1 gene DOID:0080600 COVID-19 ISO RGD:1354489 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8843145 Marchf1 membrane associated ring-CH-type finger 1 gene DOID:630 genetic disease ISO RGD:1354489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843157 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:0050949 autosomal recessive hypophosphatemic rickets ISO RGD:736576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive 8843157 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:736576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8843157 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8843157 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:736576 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:24033266|PMID:25741868|PMID:35738466 8843157 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:9001514 Hypophosphatemic Rickets, Autosomal Recessive, 1 ISO RGD:736576 D RGD:7240710 20180130 OMIM 8843157 Dmp1 dentin matrix acidic phosphoprotein 1 gene DOID:9001514 Hypophosphatemic Rickets, Autosomal Recessive, 1 ISO RGD:736576 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 PMID:16199547|PMID:16294270|PMID:17033621|PMID:17033625|PMID:17576681|PMID:19007919|PMID:21050253|PMID:25741868|PMID:25741895|PMID:28492532|PMID:9536098 8843167 Tcerg1 transcription elongation regulator 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323365 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8843167 Tcerg1 transcription elongation regulator 1 gene DOID:630 genetic disease ISO RGD:1323365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843167 Tcerg1 transcription elongation regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8843167 Tcerg1 transcription elongation regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323365 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8843167 Tcerg1 transcription elongation regulator 1 gene DOID:9256 colorectal cancer ISO RGD:1323365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8843210 Lima1 LIM domain and actin binding 1 gene DOID:630 genetic disease ISO RGD:1602328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843225 Sorl1 sortilin related receptor 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8843225 Sorl1 sortilin related receptor 1 gene DOID:0060224 atrial fibrillation ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8843225 Sorl1 sortilin related receptor 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8843225 Sorl1 sortilin related receptor 1 gene DOID:0080690 RASopathy ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8843225 Sorl1 sortilin related receptor 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8843225 Sorl1 sortilin related receptor 1 gene DOID:0111364 Alzheimer's disease 9 ISO RGD:1322123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease 9 PMID:28789839 8843225 Sorl1 sortilin related receptor 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8843225 Sorl1 sortilin related receptor 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8843225 Sorl1 sortilin related receptor 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1322123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8843225 Sorl1 sortilin related receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:1322123 D RGD:9068941 20200609 RGD PMID:15313836|REF_RGD_ID:1581303 8843225 Sorl1 sortilin related receptor 1 gene DOID:13580 cholestasis ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8843225 Sorl1 sortilin related receptor 1 gene DOID:5419 schizophrenia ISO RGD:1322123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8843225 Sorl1 sortilin related receptor 1 gene DOID:630 genetic disease ISO RGD:1322123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8843225 Sorl1 sortilin related receptor 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 8843225 Sorl1 sortilin related receptor 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8843225 Sorl1 sortilin related receptor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8843225 Sorl1 sortilin related receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1322123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8843225 Sorl1 sortilin related receptor 1 gene DOID:9007661 Dwarfism ISO RGD:1322123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8843280 Rsrp1 arginine and serine rich protein 1 gene DOID:0050641 Rh deficiency syndrome ISO RGD:1603978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RhD negative 8843280 Rsrp1 arginine and serine rich protein 1 gene DOID:4175 Rh isoimmunization ISO RGD:1603978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic disease of fetus OR newborn due to RhD isoimmunization PMID:28639307 8843280 Rsrp1 arginine and serine rich protein 1 gene DOID:630 genetic disease ISO RGD:1603978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843280 Rsrp1 arginine and serine rich protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8843290 Cfap144 cilia and flagella associated protein 144 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:2299984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8843290 Cfap144 cilia and flagella associated protein 144 gene DOID:630 genetic disease ISO RGD:2299984 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843290 Cfap144 cilia and flagella associated protein 144 gene DOID:9007802 GLUT1 Deficiency Syndrome ISO RGD:2299984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 8843298 Ccdc89 coiled-coil domain containing 89 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1602421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 8843298 Ccdc89 coiled-coil domain containing 89 gene DOID:1059 intellectual disability ISO RGD:1602421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8843298 Ccdc89 coiled-coil domain containing 89 gene DOID:630 genetic disease ISO RGD:1602421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843304 Trim55 tripartite motif containing 55 gene DOID:630 genetic disease ISO RGD:1603290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843356 Ppwd1 peptidylprolyl isomerase domain and WD repeat containing 1 gene DOID:630 genetic disease ISO RGD:1601770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843356 Ppwd1 peptidylprolyl isomerase domain and WD repeat containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:0050424 familial adenomatous polyposis ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis PMID:25741868|PMID:26467025|PMID:28492532 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:734076 D RGD:9068941 20220812 RGD protein:decreased expression:colorectum (human) PMID:32567205|REF_RGD_ID:151347643 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:1059 intellectual disability ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:734076 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:15322521|PMID:15766587|PMID:19966286|PMID:25032700|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26467025|PMID:26648449|PMID:26811195|PMID:27435373|PMID:28125075|PMID:28492532|PMID:29120461|PMID:30680046|PMID:30827058|PMID:33144657|PMID:33193653|PMID:33332384|PMID:35264596 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:1612 breast cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:23376243|PMID:24033266|PMID:24123366|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27535533|PMID:28492532 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:1924 hypogonadism ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:219 colon cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:25741868|PMID:26467025|PMID:28492532 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:2394 ovarian cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:2871 endometrial carcinoma ISO RGD:734076 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12376507|PMID:17145065|PMID:25741868|PMID:26467025|PMID:28492532 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:734076 D RGD:9068941 20220818 RGD protein:increased expression:lung (human) PMID:33442399|REF_RGD_ID:153323317 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:4606 bile duct cancer ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:26467025|PMID:28492532 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:4905 pancreatic carcinoma ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:630 genetic disease ISO RGD:734076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:811 lipodystrophy ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9000066 Jaw Abnormalities ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9003949 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome ISO RGD:734076 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome PMID:17576681|PMID:23770608|PMID:24033266|PMID:25583476|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29056344|PMID:30093976|PMID:31780696|PMID:32792570|PMID:32885271|PMID:35264596|PMID:9536098 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9003949 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome susceptibility ISO RGD:734076 D RGD:7240710 20240320 OMIM 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:734076 D RGD:9068941 20220812 RGD associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) PMID:28924235|REF_RGD_ID:153323316 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28166811|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30267214|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32792570|PMID:7704014|PMID:9536098 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30267214|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32792570|PMID:7704014|PMID:9536098 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32792570|PMID:33144657|PMID:33193653|PMID:33332384|PMID:7704014|PMID:9536098 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:16741161|PMID:17067213|PMID:17145065|PMID:17576681|PMID:17855454|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:27854218|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32792570|PMID:33144657|PMID:33193653|PMID:33332384|PMID:7704014|PMID:9536098 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:27854218|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:7704014|PMID:9536098 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:32359129|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:7704014|PMID:9536098 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:27854218|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28577310|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:32041611|PMID:32359129|PMID:32424176|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:34897210|PMID:35128723|PMID:35264596|PMID:36291559|PMID:7704014|PMID:9536098 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734076 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10074927|PMID:12376507|PMID:15322521|PMID:15766587|PMID:16699561|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21636617|PMID:23263490|PMID:23376243|PMID:23447401|PMID:23528559|PMID:24033266|PMID:24123366|PMID:24501277|PMID:25032700|PMID:25228659|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26206375|PMID:26344056|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27435373|PMID:27535533|PMID:27854218|PMID:28125075|PMID:28306219|PMID:28423643|PMID:28492532|PMID:28577310|PMID:28608266|PMID:28687338|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31297992|PMID:31422818|PMID:31449058|PMID:32041611|PMID:32191290|PMID:32359129|PMID:32424176|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:34326862|PMID:34646395|PMID:34897210|PMID:34954152|PMID:35128723|PMID:35264596|PMID:36291559|PMID:7704014|PMID:9536098 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007653 Multiple Abnormalities ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9007715 Endometrial Neoplasms ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263490 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263490 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:734076 D RGD:9068941 20220812 RGD DNA:nonsense mutation, missense mutation:CDS:p.195*, p.V759I (human) PMID:30086056|REF_RGD_ID:151347647 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9008681 Deafness ISO RGD:734076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770608 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9009054 Colorectal Cancer 10 ISO RGD:734076 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q | ClinVar Annotator: match by term: Colorectal cancer 10 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10 PMID:10074927|PMID:10541966|PMID:12376507|PMID:14767555|PMID:15322521|PMID:15766587|PMID:16199547|PMID:16699561|PMID:17121822|PMID:17145065|PMID:17576681|PMID:19282447|PMID:19718023|PMID:19966286|PMID:20951805|PMID:21157497|PMID:21258395|PMID:21636617|PMID:23065663|PMID:23245697|PMID:23263490|PMID:23283971|PMID:23376243|PMID:23447401|PMID:23528559|PMID:23770608|PMID:24033266|PMID:24123366|PMID:24501277|PMID:24861832|PMID:25032700|PMID:25131834|PMID:25202305|PMID:25217194|PMID:25228659|PMID:25370038|PMID:25529843|PMID:25559809|PMID:25583476|PMID:25625332|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25741868|PMID:25827231|PMID:25938944|PMID:26133394|PMID:26172944|PMID:26206375|PMID:26344056|PMID:26438511|PMID:26467025|PMID:26580448|PMID:26648449|PMID:26648538|PMID:26689913|PMID:26748215|PMID:26811195|PMID:27153395|PMID:27161865|PMID:27320729|PMID:27435373|PMID:27535533|PMID:27854218|PMID:28125075|PMID:28202063|PMID:28306219|PMID:28368425|PMID:28423643|PMID:28492532|PMID:28577310|PMID:28608266|PMID:28687338|PMID:28717660|PMID:28790115|PMID:28912153|PMID:29056344|PMID:29120461|PMID:29212164|PMID:29406563|PMID:29717118|PMID:29880869|PMID:29917049|PMID:29987844|PMID:30083234|PMID:30086056|PMID:30093976|PMID:30185652|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31422818|PMID:31449058|PMID:31629014|PMID:31750734|PMID:31780696|PMID:31866764|PMID:31944473|PMID:32041611|PMID:32191290|PMID:32255556|PMID:32265515|PMID:32359129|PMID:32424176|PMID:32567205|PMID:32634176|PMID:32792570|PMID:32885271|PMID:32984025|PMID:33144657|PMID:33193653|PMID:33332384|PMID:33436027|PMID:34130653|PMID:34326862|PMID:34646395|PMID:34897210|PMID:34954152|PMID:35128723|PMID:35264596|PMID:36291559|PMID:7704014|PMID:9536098 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9009054 Colorectal Cancer 10 susceptibility ISO RGD:734076 D RGD:7240710 20240320 OMIM 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:734076 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:24033266|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26467025|PMID:26648449|PMID:26648538|PMID:28125075|PMID:28492532|PMID:28608266|PMID:29212164|PMID:29987844|PMID:30083234|PMID:30374176|PMID:30827058|PMID:31285513|PMID:31449058 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:734076 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:21157497|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26467025|PMID:26648449|PMID:26648538|PMID:28125075|PMID:28492532|PMID:28608266|PMID:29212164|PMID:29987844|PMID:30083234|PMID:30374176|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32792570|PMID:33193653|PMID:33332384|PMID:35264596 8843378 Pold1 DNA polymerase delta 1, catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:734076 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:21157497|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25938944|PMID:26133394|PMID:26467025|PMID:26648449|PMID:26648538|PMID:28125075|PMID:28492532|PMID:28608266|PMID:29212164|PMID:29987844|PMID:30083234|PMID:30374176|PMID:30680046|PMID:30827058|PMID:31285513|PMID:31449058|PMID:32792570|PMID:33193653|PMID:33332384|PMID:34326862|PMID:35264596 8843430 B3galt2 beta-1,3-galactosyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:12434154|PMID:25444225|PMID:28492532|PMID:29040582 8843430 B3galt2 beta-1,3-galactosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1347261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843430 B3galt2 beta-1,3-galactosyltransferase 2 gene DOID:9002327 Hyperparathyroidism 2 ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors PMID:25637381 8843430 B3galt2 beta-1,3-galactosyltransferase 2 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:25741868|PMID:28774260 8843430 B3galt2 beta-1,3-galactosyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8843458 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:0081225 autosomal recessive intellectual developmental disorder 64 ISO RGD:1318574 D RGD:7240710 20190315 OMIM 8843458 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:0081225 autosomal recessive intellectual developmental disorder 64 ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 64 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 64 PMID:25741868|PMID:28837161 8843458 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:1686 glaucoma treatment ISO RGD:1318574 D RGD:9068941 20200609 RGD PMID:19422885|REF_RGD_ID:8655601 8843458 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8843458 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:4990 essential tremor ISO RGD:1318574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19182806 8843458 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8843458 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:630 genetic disease ISO RGD:1318574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843458 Lingo1 leucine rich repeat and Ig domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1318574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8843480 Yeats4 YEATS domain containing 4 gene DOID:3070 high grade glioma ISO RGD:1305741 D RGD:9068941 20200609 RGD PMID:11521196|REF_RGD_ID:1598696 8843480 Yeats4 YEATS domain containing 4 gene DOID:3382 liposarcoma ISO RGD:1353043 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20601955 8843491 Anpep alanyl aminopeptidase, membrane gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:737099 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8843491 Anpep alanyl aminopeptidase, membrane gene DOID:11054 urinary bladder cancer ISO RGD:737099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8843491 Anpep alanyl aminopeptidase, membrane gene DOID:2717 Bloom syndrome ISO RGD:737099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8843491 Anpep alanyl aminopeptidase, membrane gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:737099 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8843491 Anpep alanyl aminopeptidase, membrane gene DOID:630 genetic disease ISO RGD:737099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843491 Anpep alanyl aminopeptidase, membrane gene DOID:9256 colorectal cancer ISO RGD:737099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8843524 Ankrd28 ankyrin repeat domain 28 gene DOID:0060417 3p deletion syndrome ISO RGD:1343361 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8843524 Ankrd28 ankyrin repeat domain 28 gene DOID:630 genetic disease ISO RGD:1343361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843566 Amtn amelotin gene DOID:0080243 amelogenesis imperfecta type 3B ISO RGD:1604908 D RGD:7240710 20190315 OMIM 8843566 Amtn amelotin gene DOID:630 genetic disease ISO RGD:1604908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843577 Tprg1l tumor protein p63 regulated 1 like gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8843577 Tprg1l tumor protein p63 regulated 1 like gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1601827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8843577 Tprg1l tumor protein p63 regulated 1 like gene DOID:0110994 Joubert syndrome 25 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8843577 Tprg1l tumor protein p63 regulated 1 like gene DOID:0111934 immunodeficiency 38 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8843577 Tprg1l tumor protein p63 regulated 1 like gene DOID:0111935 immunodeficiency 16 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8843577 Tprg1l tumor protein p63 regulated 1 like gene DOID:630 genetic disease ISO RGD:1601827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843577 Tprg1l tumor protein p63 regulated 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8843577 Tprg1l tumor protein p63 regulated 1 like gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1601827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8843586 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:733613 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 8843586 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:4450 renal cell carcinoma ISO RGD:620237 D RGD:9068941 20200609 RGD protein:increased activity:tumor (rat) PMID:476627|REF_RGD_ID:5135050 8843586 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:630 genetic disease ISO RGD:733613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843586 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:684 hepatocellular carcinoma ISO RGD:620237 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6327016|REF_RGD_ID:5135035 8843586 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:761203 8843586 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620237 D RGD:9068941 20200609 RGD protein:increased activity:kidney (rat) PMID:2451505|REF_RGD_ID:5135016 8843586 Ppat phosphoribosyl pyrophosphate amidotransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:733613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8843604 Haus1 HAUS augmin like complex subunit 1 gene DOID:0060356 Vici syndrome ISO RGD:1346730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8843604 Haus1 HAUS augmin like complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1346730 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8843604 Haus1 HAUS augmin like complex subunit 1 gene DOID:630 genetic disease ISO RGD:1346730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843604 Haus1 HAUS augmin like complex subunit 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1346730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8843633 LOC102029536 cytochrome c oxidase subunit 7A2, mitochondrial gene DOID:630 genetic disease ISO RGD:1342607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843634 Trmt1 tRNA methyltransferase 1 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1601995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 8843634 Trmt1 tRNA methyltransferase 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601995 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 8843634 Trmt1 tRNA methyltransferase 1 gene DOID:0081229 autosomal recessive intellectual developmental disorder 68 ISO RGD:1601995 D RGD:7240710 20190315 OMIM 8843634 Trmt1 tRNA methyltransferase 1 gene DOID:0081229 autosomal recessive intellectual developmental disorder 68 ISO RGD:1601995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 68 PMID:21937992|PMID:25741868|PMID:26308914|PMID:30289604 8843634 Trmt1 tRNA methyltransferase 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8843634 Trmt1 tRNA methyltransferase 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1601995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8843634 Trmt1 tRNA methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1601995 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8843634 Trmt1 tRNA methyltransferase 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1601995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8843634 Trmt1 tRNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1601995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8843660 Rpl18a ribosomal protein L18a gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1345925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:28492532 8843660 Rpl18a ribosomal protein L18a gene DOID:1574 alcohol use disorder ISO RGD:1302976 D RGD:9068941 20200609 RGD mRNA:decreased expression:parietal cortex PMID:11244494|REF_RGD_ID:11038708 8843660 Rpl18a ribosomal protein L18a gene DOID:630 genetic disease ISO RGD:1345925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843660 Rpl18a ribosomal protein L18a gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:1345925 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:28492532 8843660 Rpl18a ribosomal protein L18a gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1345925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8843675 Wnt7a Wnt family member 7A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:69159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8843675 Wnt7a Wnt family member 7A gene DOID:0060417 3p deletion syndrome ISO RGD:69159 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8843675 Wnt7a Wnt family member 7A gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:69159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 8843675 Wnt7a Wnt family member 7A gene DOID:0090067 Fuhrmann syndrome ISO RGD:69159 D RGD:7240710 20180130 OMIM 8843675 Wnt7a Wnt family member 7A gene DOID:0090067 Fuhrmann syndrome ISO RGD:69159 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fuhrmann syndrome PMID:16826533|PMID:25741868|PMID:28492532|PMID:9128926 8843675 Wnt7a Wnt family member 7A gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:69159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8843675 Wnt7a Wnt family member 7A gene DOID:0112181 Schinzel type phocomelia ISO RGD:69159 D RGD:7240710 20180130 OMIM 8843675 Wnt7a Wnt family member 7A gene DOID:0112181 Schinzel type phocomelia ISO RGD:69159 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Schinzel phocomelia syndrome PMID:16826533|PMID:20949531|PMID:21271649|PMID:21344627|PMID:25741868 8843675 Wnt7a Wnt family member 7A gene DOID:127 leiomyoma ISO RGD:69159 D RGD:9068941 20200609 RGD Uterine Leiomyoma; mRNA:decreased expression,increased expression:tumor:decreased in 20/30, increased in 9/30 tumors vs paired adjacent myometria PMID:11232041|REF_RGD_ID:2298847 8843675 Wnt7a Wnt family member 7A gene DOID:630 genetic disease ISO RGD:69159 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8843675 Wnt7a Wnt family member 7A gene DOID:9002739 Female Urogenital Diseases ISO RGD:69159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8843675 Wnt7a Wnt family member 7A gene DOID:9002762 Ovarian Neoplasms ISO RGD:69159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174399 8843675 Wnt7a Wnt family member 7A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69160 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863 8843675 Wnt7a Wnt family member 7A gene DOID:9007150 Urogenital Neoplasms ISO RGD:69159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15751030 8843695 Tnfsf15 TNF superfamily member 15 gene DOID:0050589 inflammatory bowel disease ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192919 8843695 Tnfsf15 TNF superfamily member 15 gene DOID:1024 leprosy ISO RGD:737096 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 8843695 Tnfsf15 TNF superfamily member 15 gene DOID:630 genetic disease ISO RGD:737096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843695 Tnfsf15 TNF superfamily member 15 gene DOID:8398 osteoarthritis ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 8843695 Tnfsf15 TNF superfamily member 15 gene DOID:8577 ulcerative colitis ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 8843695 Tnfsf15 TNF superfamily member 15 gene DOID:8778 Crohn's disease ISO RGD:737096 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:37156999 8843695 Tnfsf15 TNF superfamily member 15 gene DOID:9005372 Inflammation ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20980995 8843695 Tnfsf15 TNF superfamily member 15 gene DOID:9007156 Enteritis ISO RGD:737096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20980995 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:1351565 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203|PMID:34906470|PMID:36909829 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:0050633 ocular albinism 1 ISO RGD:1351565 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203|PMID:34906470|PMID:36909829 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:0090059 enhanced S-cone syndrome ISO RGD:1351565 D RGD:7240710 20180130 OMIM 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:0090059 enhanced S-cone syndrome ISO RGD:1351565 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Enhanced S-cone syndrome | ClinVar Annotator: match by term: Goldmann-Favre syndrome | ClinVar Annotator: match by term: NR2E3-Related Disorders PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15453866|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17576681|PMID:17601449|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:20212206|PMID:20725840|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23039133|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23604511|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24265693|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25356976|PMID:25703721|PMID:25741868|PMID:25999674|PMID:26229699|PMID:26355662|PMID:26667666|PMID:26894784|PMID:27013732|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28418496|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:28981474|PMID:29193891|PMID:29343940|PMID:29431110|PMID:29785639|PMID:30054919|PMID:30285900|PMID:30324420|PMID:30543658|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31213501|PMID:31370859|PMID:32037395|PMID:32581362|PMID:32679203|PMID:32901917|PMID:33138239|PMID:33781268|PMID:34906470|PMID:36909829|PMID:9536098 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:0110399 retinitis pigmentosa 37 ISO RGD:1351565 D RGD:7240710 20180130 OMIM 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:0110399 retinitis pigmentosa 37 ISO RGD:1351565 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: NR2E3-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 37 PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17601449|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:22711506|PMID:23039133|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24265693|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28492532|PMID:28559085|PMID:28771251|PMID:28944237|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30543658|PMID:30718709|PMID:31213501|PMID:32679203|PMID:33781268|PMID:34906470|PMID:36909829 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15453866|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23039133|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:28981474|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30718709|PMID:31054281 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1351565 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17576681|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:28981474|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30718709|PMID:32037395|PMID:32679203|PMID:32901917|PMID:34906470|PMID:9536098 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1351565 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17576681|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:19933183|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23105016|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25703721|PMID:25741868|PMID:26355662|PMID:26667666|PMID:26894784|PMID:26910043|PMID:27013732|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28418496|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:28981474|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30718709|PMID:32037395|PMID:32679203|PMID:32901917|PMID:33138239|PMID:34906470|PMID:36909829|PMID:9536098 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:14791 Leber congenital amaurosis ISO RGD:1351565 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10655056|PMID:19898638|PMID:24069298|PMID:24891813|PMID:25703721|PMID:28300834|PMID:28492532|PMID:34440443 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:2717 Bloom syndrome ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:3320 Tay-Sachs disease ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:630 genetic disease ISO RGD:1351565 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203|PMID:34906470|PMID:36909829 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:8501 fundus dystrophy ISO RGD:1351565 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10655056|PMID:11071390|PMID:11773633|PMID:12963616|PMID:15459973|PMID:15689355|PMID:16024868|PMID:16199547|PMID:16225923|PMID:17438525|PMID:17564971|PMID:17982421|PMID:18294254|PMID:18436841|PMID:18835469|PMID:19006237|PMID:19139342|PMID:19273793|PMID:19718767|PMID:19823680|PMID:19898638|PMID:21217109|PMID:21364904|PMID:22711506|PMID:23374571|PMID:23591405|PMID:23989059|PMID:24033266|PMID:24069298|PMID:24339724|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25326637|PMID:25356976|PMID:25703721|PMID:25741868|PMID:25999674|PMID:26229699|PMID:26355662|PMID:26894784|PMID:26910043|PMID:27013732|PMID:27032803|PMID:27522502|PMID:27573156|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28300834|PMID:28418496|PMID:28492532|PMID:28541266|PMID:28559085|PMID:28771251|PMID:28944237|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30054919|PMID:30324420|PMID:30543658|PMID:30718709|PMID:32037395|PMID:32581362|PMID:32679203|PMID:32901917|PMID:34906470|PMID:36909829 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:9000343 Vision Disorders ISO RGD:1351565 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:32679203|PMID:34906470|PMID:36909829 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:9008296 Eye Abnormalities ISO RGD:1351565 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25079116|PMID:25741868|PMID:26894784|PMID:28041643|PMID:28492532|PMID:28559085|PMID:32581362|PMID:32679203 8843711 Nr2e3 nuclear receptor subfamily 2 group E member 3 gene DOID:9256 colorectal cancer ISO RGD:1351565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8843723 Artn artemin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 8843723 Artn artemin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8843723 Artn artemin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 8843723 Artn artemin gene DOID:12689 acoustic neuroma ISO RGD:1347630 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral nerve: PMID:19937367|REF_RGD_ID:8655552 8843723 Artn artemin gene DOID:1793 pancreatic cancer ISO RGD:1347630 D RGD:9068941 20200609 RGD PMID:20395845|REF_RGD_ID:2325815 8843723 Artn artemin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1347630 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:19304517|REF_RGD_ID:2325817 8843723 Artn artemin gene DOID:3310 atopic dermatitis ISO RGD:1347630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 8843723 Artn artemin gene DOID:574 peripheral nervous system disease ISO RGD:621427 D RGD:9068941 20200609 RGD PMID:18344995|PMID:20302919|REF_RGD_ID:2325819|REF_RGD_ID:2325821 8843723 Artn artemin gene DOID:630 genetic disease ISO RGD:1347630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843723 Artn artemin gene DOID:9006202 Pruritus ISO RGD:1347630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 8843723 Artn artemin gene DOID:9006205 Animal Disease Models ISO RGD:1347630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 8843723 Artn artemin gene DOID:9008939 Breast Neoplasms ISO RGD:1347630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20305694 8843732 Egln3 egl-9 family hypoxia inducible factor 3 gene DOID:3021 acute kidney failure ISO RGD:71019 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19349364|REF_RGD_ID:11252083 8843732 Egln3 egl-9 family hypoxia inducible factor 3 gene DOID:4450 renal cell carcinoma ISO RGD:732652 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20676679|REF_RGD_ID:13506732 8843732 Egln3 egl-9 family hypoxia inducible factor 3 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:732652 D RGD:9068941 20200609 RGD PMID:23788753|REF_RGD_ID:13506731 8843732 Egln3 egl-9 family hypoxia inducible factor 3 gene DOID:5844 myocardial infarction ISO RGD:71019 D RGD:9068941 20200609 RGD PMID:16765982|REF_RGD_ID:11252084 8843732 Egln3 egl-9 family hypoxia inducible factor 3 gene DOID:630 genetic disease ISO RGD:732652 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843732 Egln3 egl-9 family hypoxia inducible factor 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8843732 Egln3 egl-9 family hypoxia inducible factor 3 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:71019 D RGD:9068941 20200609 RGD PMID:16761101|REF_RGD_ID:11252085 8843732 Egln3 egl-9 family hypoxia inducible factor 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:71019 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19349364|REF_RGD_ID:11252083 8843732 Egln3 egl-9 family hypoxia inducible factor 3 gene DOID:9007188 Liver Neoplasms ISO RGD:732652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8843741 Arhgap22 Rho GTPase activating protein 22 gene DOID:10316 pneumoconiosis ISO RGD:1316310 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8843741 Arhgap22 Rho GTPase activating protein 22 gene DOID:11372 megacolon ISO RGD:1316310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8843741 Arhgap22 Rho GTPase activating protein 22 gene DOID:2843 long QT syndrome ISO RGD:1316310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8843741 Arhgap22 Rho GTPase activating protein 22 gene DOID:5419 schizophrenia ISO RGD:1316310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8843741 Arhgap22 Rho GTPase activating protein 22 gene DOID:630 genetic disease ISO RGD:1316310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0050545 visceral heterotaxy ISO RGD:1622226 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080322 polycystic kidney disease ISO RGD:3334 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R823W(rat) PMID:21119215|REF_RGD_ID:7207426 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080322 polycystic kidney disease ISO RGD:3334 D RGD:9068941 20210212 RGD PMID:16207829|PMID:7933831|REF_RGD_ID:11534987|REF_RGD_ID:1300446 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0111124 nephronophthisis 16 ISO RGD:1319654 D RGD:7240710 20180130 OMIM 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:0111124 nephronophthisis 16 ISO RGD:1319654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 16 PMID:17576681|PMID:23793029|PMID:24610927|PMID:25599650|PMID:25741868|PMID:28492532|PMID:9536098 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1319654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:12712 nephronophthisis ISO RGD:1319654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1319654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:2975 cystic kidney disease ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:4676 uremia ISO RGD:3334 D RGD:9068941 20210212 RGD PMID:7933831|REF_RGD_ID:1300446 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:5082 liver cirrhosis ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:576 proteinuria ISO RGD:3334 D RGD:9068941 20210212 RGD PMID:7933831|REF_RGD_ID:1300446 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:630 genetic disease ISO RGD:1319654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:758 situs inversus ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12089381 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:9001793 Generalized Epilepsy ISO RGD:1319654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8843769 Anks6 ankyrin repeat and sterile alpha motif domain containing 6 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1319654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793029 8843790 Mtx2 metaxin 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1315110 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8843790 Mtx2 metaxin 2 gene DOID:11372 megacolon ISO RGD:1315110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8843790 Mtx2 metaxin 2 gene DOID:630 genetic disease ISO RGD:1315110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843790 Mtx2 metaxin 2 gene DOID:9007744 Mandibuloacral Dysplasia Progeroid Syndrome ISO RGD:1315110 D RGD:7240710 20201223 OMIM 8843790 Mtx2 metaxin 2 gene DOID:9007744 Mandibuloacral Dysplasia Progeroid Syndrome ISO RGD:1315110 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia progeroid syndrome | ClinVar Annotator: match by term: Progeroid mandibuloacral dysplasia PMID:25741868|PMID:32917887 8843827 Gdf5 growth differentiation factor 5 gene DOID:0050581 brachydactyly ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:17384641|PMID:25741868|PMID:28492532 8843827 Gdf5 growth differentiation factor 5 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1345266 D RGD:7240710 20180130 OMIM 8843827 Gdf5 growth differentiation factor 5 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1345266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2B PMID:12121354|PMID:16014698|PMID:16127465|PMID:17384641|PMID:18629880|PMID:25741868|PMID:28492532 8843827 Gdf5 growth differentiation factor 5 gene DOID:0050794 multiple synostoses syndrome ISO RGD:1622400 D RGD:9068941 20220825 MouseDO OMIM:186500 | OMIM:610017 | OMIM:612961 8843827 Gdf5 growth differentiation factor 5 gene DOID:0060931 developmental dysplasia of the hip 1 ISO RGD:1345266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18947434 8843827 Gdf5 growth differentiation factor 5 gene DOID:0060931 developmental dysplasia of the hip 1 susceptibility ISO RGD:1345266 D RGD:9068941 20200609 RGD DNA:SNP::rs143383(human) PMID:18947434|REF_RGD_ID:12738201 8843827 Gdf5 growth differentiation factor 5 gene DOID:0080049 acromesomelic dysplasia ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 8843827 Gdf5 growth differentiation factor 5 gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1345266 D RGD:7240710 20180130 OMIM 8843827 Gdf5 growth differentiation factor 5 gene DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type PMID:17384641|PMID:25741868|PMID:2703235|PMID:28492532|PMID:8589725|PMID:964999 8843827 Gdf5 growth differentiation factor 5 gene DOID:0080052 acromesomelic dysplasia, Grebe type ISO RGD:1345266 D RGD:7240710 20180130 OMIM 8843827 Gdf5 growth differentiation factor 5 gene DOID:0080052 acromesomelic dysplasia, Grebe type ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Grebe syndrome PMID:12124730|PMID:12900894|PMID:17384641|PMID:25741868|PMID:28492532|PMID:9288098 8843827 Gdf5 growth differentiation factor 5 gene DOID:0080788 proximal symphalangism 2 ISO RGD:1345266 D RGD:7240710 20201021 OMIM 8843827 Gdf5 growth differentiation factor 5 gene DOID:0080788 proximal symphalangism 2 ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism, proximal, 1B PMID:12121354|PMID:16014698|PMID:16127465|PMID:16532400|PMID:16892395|PMID:18283415 8843827 Gdf5 growth differentiation factor 5 gene DOID:0081317 multiple synostoses syndrome 1 ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome 8843827 Gdf5 growth differentiation factor 5 gene DOID:0081318 multiple synostoses syndrome 2 ISO RGD:1345266 D RGD:7240710 20180130 OMIM 8843827 Gdf5 growth differentiation factor 5 gene DOID:0081318 multiple synostoses syndrome 2 ISO RGD:1345266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 2 PMID:16127465|PMID:16532400|PMID:17384641|PMID:18203755|PMID:25741868|PMID:28492532|PMID:9024575|PMID:9288091 8843827 Gdf5 growth differentiation factor 5 gene DOID:0110964 brachydactyly type A1 ISO RGD:1345266 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1195C>T(human) PMID:20683927|REF_RGD_ID:12437076 8843827 Gdf5 growth differentiation factor 5 gene DOID:0110965 brachydactyly type A2 ISO RGD:1345266 D RGD:7240710 20180130 OMIM 8843827 Gdf5 growth differentiation factor 5 gene DOID:0110965 brachydactyly type A2 ISO RGD:1345266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type A2 PMID:12121354|PMID:12357473|PMID:16014698|PMID:16127465|PMID:18203755|PMID:25741868|PMID:27577507|PMID:28492532|PMID:8589725|PMID:9288091 8843827 Gdf5 growth differentiation factor 5 gene DOID:0110970 brachydactyly type C ISO RGD:1345266 D RGD:7240710 20180130 OMIM 8843827 Gdf5 growth differentiation factor 5 gene DOID:0110970 brachydactyly type C ISO RGD:1345266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brachydactyly type C PMID:12357473|PMID:12567410|PMID:13953230|PMID:14735582|PMID:16957682|PMID:18203755|PMID:18283415|PMID:25741868|PMID:28492532|PMID:9024575|PMID:9288091 8843827 Gdf5 growth differentiation factor 5 gene DOID:0110977 brachydactyly type A1C ISO RGD:1345266 D RGD:7240710 20180130 OMIM 8843827 Gdf5 growth differentiation factor 5 gene DOID:0110977 brachydactyly type A1C ISO RGD:1345266 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brachydactyly type A1C PMID:20683927|PMID:25741868|PMID:9288098 8843827 Gdf5 growth differentiation factor 5 gene DOID:11193 syndactyly ISO RGD:1622400 D RGD:9068941 20200609 RGD DNA:insertion:cds: PMID:18984342|REF_RGD_ID:12738203 8843827 Gdf5 growth differentiation factor 5 gene DOID:14330 Parkinson's disease ISO RGD:620102 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum: PMID:24373993|REF_RGD_ID:12738228 8843827 Gdf5 growth differentiation factor 5 gene DOID:14330 Parkinson's disease treatment ISO RGD:1345266 D RGD:9068941 20200609 RGD PMID:22436046|REF_RGD_ID:12738227 8843827 Gdf5 growth differentiation factor 5 gene DOID:2256 osteochondrodysplasia ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia 8843827 Gdf5 growth differentiation factor 5 gene DOID:630 genetic disease ISO RGD:1345266 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14735582|PMID:28492532 8843827 Gdf5 growth differentiation factor 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1345266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18830904 8843827 Gdf5 growth differentiation factor 5 gene DOID:8398 osteoarthritis ISO RGD:1345266 D RGD:7240710 20180130 OMIM 8843827 Gdf5 growth differentiation factor 5 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1345266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8843827 Gdf5 growth differentiation factor 5 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis, hip PMID:17384641|PMID:28492532 8843827 Gdf5 growth differentiation factor 5 gene DOID:9008331 Tendon Injuries treatment ISO RGD:1345266 D RGD:9068941 20200609 RGD PMID:17507245|REF_RGD_ID:12738226 8843827 Gdf5 growth differentiation factor 5 gene DOID:9008331 Tendon Injuries treatment ISO RGD:1622400 D RGD:9068941 20200609 RGD PMID:16419971|REF_RGD_ID:12738229 8843827 Gdf5 growth differentiation factor 5 gene DOID:9008763 Femoral Fractures treatment ISO RGD:1345266 D RGD:9068941 20200609 RGD PMID:25543012|REF_RGD_ID:12738204 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:0001816 angiosarcoma ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:0060680 pigment dispersion syndrome ISO RGD:736033 D RGD:9068941 20220825 MouseDO OMIM:600510 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:0080600 COVID-19 ISO RGD:736032 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:10584 retinitis pigmentosa ISO RGD:736032 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:34828430 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:10808 gastric ulcer ISO RGD:70936 D RGD:9068941 20200609 RGD Protein:decreased expression:serum PMID:11353854|REF_RGD_ID:1600910 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:1289 neurodegenerative disease ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive neurodegenerative disease PMID:25741868|PMID:28492532|PMID:31623504 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:13550 angle-closure glaucoma ISO RGD:736032 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Glaucoma, primary closed-angle PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29977801|PMID:30007336|PMID:31623504|PMID:34828430 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:1405 primary angle-closure glaucoma ISO RGD:736032 D RGD:7240710 20200715 OMIM 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:182 calcinosis ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:1826 epilepsy ISO RGD:736032 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:4079 heart valve disease ISO RGD:736032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:4448 macular degeneration ISO RGD:736032 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:34828430 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:736032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28714951|PMID:29738522|PMID:9536098 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:684 hepatocellular carcinoma severity ISO RGD:70936 D RGD:9068941 20200609 RGD Protein:increased expression PMID:15739185|REF_RGD_ID:1600906 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:83 cataract ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:12415512|PMID:16199547|PMID:19390655|PMID:25456301|PMID:28492532 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:8501 fundus dystrophy ISO RGD:736032 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12415512|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29977801|PMID:32581362|PMID:34828430 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:8577 ulcerative colitis ISO RGD:70936 D RGD:9068941 20200609 RGD Protein:increased expression:large intestine mucosa PMID:17011522|REF_RGD_ID:1600887 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:736032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9000784 Fibrosis ISO RGD:70936 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11592600|REF_RGD_ID:632362 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9002033 Knobloch Syndrome ISO RGD:736032 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:10942434|PMID:12415512|PMID:14695535|PMID:1554013|PMID:16199547|PMID:17546652|PMID:17576681|PMID:17975799|PMID:19160445|PMID:19390655|PMID:20799329|PMID:20979194|PMID:21862674|PMID:21937992|PMID:23667181|PMID:24033266|PMID:25456301|PMID:25741868|PMID:26467025|PMID:27259167|PMID:28041643|PMID:28144890|PMID:28492532|PMID:29977801|PMID:30007336|PMID:31415705|PMID:32581362|PMID:32860008|PMID:34828430|PMID:9536098 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9002525 Hereditary Eye Diseases susceptibility ISO RGD:736032 D RGD:9068941 20200609 RGD Knobloch syndrome, OMIM:267750;DNA:deletion: :c.3514delCT PMID:12415512|REF_RGD_ID:1600885 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:736032 D RGD:7240710 20220727 OMIM 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9002766 Knobloch Syndrome Type I ISO RGD:736032 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: COL18A1-related condition | ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:12415512|PMID:16199547|PMID:19160445|PMID:19390655|PMID:20799329|PMID:21862674|PMID:23667181|PMID:25456301|PMID:25741868|PMID:26467025|PMID:27259167|PMID:28041643|PMID:28144890|PMID:28492532|PMID:29977801|PMID:31415705|PMID:34828430 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9002928 Colonic Neoplasms severity ISO RGD:70936 D RGD:9068941 20200609 RGD PMID:16437622|REF_RGD_ID:1600901 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:70936 D RGD:9068941 20200609 RGD PMID:10766159|REF_RGD_ID:70690 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9263 homocystinuria ISO RGD:736032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8843833 Col18a1 collagen type XVIII alpha 1 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:736032 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8843904 Adgre5 adhesion G protein-coupled receptor E5 gene DOID:1793 pancreatic cancer ISO RGD:1313717 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12428789|REF_RGD_ID:2317573 8843904 Adgre5 adhesion G protein-coupled receptor E5 gene DOID:630 genetic disease ISO RGD:1313717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843904 Adgre5 adhesion G protein-coupled receptor E5 gene DOID:850 lung disease ISO RGD:1313717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:28492532|PMID:28545593 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 PMID:25741868 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1319869 D RGD:7240710 20180130 OMIM 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1319869 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 PMID:16199547|PMID:17576681|PMID:22683086|PMID:24033266|PMID:24049131|PMID:24417746|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28337824|PMID:28492532|PMID:28545593|PMID:28900819|PMID:30109123|PMID:9536098 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319869 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0080942 anauxetic dysplasia ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:10487 Hirschsprung's disease ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:25741868 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:1059 intellectual disability ISO RGD:1319869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:630 genetic disease ISO RGD:1319869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22683086|PMID:24033266|PMID:24417746|PMID:25741868|PMID:28492532|PMID:28545593 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319869 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8843933 Pigo phosphatidylinositol glycan anchor biosynthesis class O gene DOID:9870 galactosemia ISO RGD:1319869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8843955 Tradd TNFRSF1A associated via death domain gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1350695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8843955 Tradd TNFRSF1A associated via death domain gene DOID:0110255 cataract 5 multiple types ISO RGD:1350695 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8843955 Tradd TNFRSF1A associated via death domain gene DOID:630 genetic disease ISO RGD:1350695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8843955 Tradd TNFRSF1A associated via death domain gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:621313 D RGD:9068941 20200609 RGD PMID:23423194|REF_RGD_ID:8661760 8843955 Tradd TNFRSF1A associated via death domain gene DOID:9008091 Optic Nerve Injuries ISO RGD:621313 D RGD:9068941 20200609 RGD protein:increased expression: retina PMID:18552980|REF_RGD_ID:7794683 8843964 Svep1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1350967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532 8843964 Svep1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 gene DOID:630 genetic disease ISO RGD:1350967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844016 Btbd9 BTB domain containing 9 gene DOID:0050425 restless legs syndrome ISO RGD:1315893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17637780 8844016 Btbd9 BTB domain containing 9 gene DOID:0050425 restless legs syndrome ISO RGD:1315894 D RGD:9068941 20220825 MouseDO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 8844016 Btbd9 BTB domain containing 9 gene DOID:1059 intellectual disability ISO RGD:1315893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8844016 Btbd9 BTB domain containing 9 gene DOID:630 genetic disease ISO RGD:1315893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844030 Pla2g5 phospholipase A2 group V gene DOID:0060369 Parkinson's disease 6 ISO RGD:735328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8844030 Pla2g5 phospholipase A2 group V gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:735328 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8844030 Pla2g5 phospholipase A2 group V gene DOID:0060869 late-onset retinal degeneration ISO RGD:735328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration 8844030 Pla2g5 phospholipase A2 group V gene DOID:0080543 hyperprolinemia type 2 ISO RGD:735328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8844030 Pla2g5 phospholipase A2 group V gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:735328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8844030 Pla2g5 phospholipase A2 group V gene DOID:0111677 familial benign fleck retina ISO RGD:735328 D RGD:7240710 20180130 OMIM 8844030 Pla2g5 phospholipase A2 group V gene DOID:0111677 familial benign fleck retina ISO RGD:735328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fleck retina, familial benign PMID:17502520|PMID:22137173|PMID:25549071|PMID:28492532 8844030 Pla2g5 phospholipase A2 group V gene DOID:630 genetic disease ISO RGD:735328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8844030 Pla2g5 phospholipase A2 group V gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:735328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8844051 Znf333 zinc finger protein 333 gene DOID:630 genetic disease ISO RGD:1352601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844075 Spata2l spermatogenesis associated 2 like gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1605588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8844075 Spata2l spermatogenesis associated 2 like gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1605588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8844075 Spata2l spermatogenesis associated 2 like gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1605588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 8844075 Spata2l spermatogenesis associated 2 like gene DOID:13636 Fanconi anemia ISO RGD:1605588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8844075 Spata2l spermatogenesis associated 2 like gene DOID:14780 KBG syndrome ISO RGD:1605588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 8844075 Spata2l spermatogenesis associated 2 like gene DOID:630 genetic disease ISO RGD:1605588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844099 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1323347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8844099 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1323347 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8844099 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:1059 intellectual disability ISO RGD:1323347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8844099 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1323347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8844099 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:630 genetic disease ISO RGD:1323347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844099 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8844099 Pou2af1 POU class 2 homeobox associating factor 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1323347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8844121 Mtmr10 myotubularin related protein 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 8844121 Mtmr10 myotubularin related protein 10 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1606536 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 8844121 Mtmr10 myotubularin related protein 10 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1606536 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Karyomegalic interstitial nephritis PMID:16678356|PMID:17304531|PMID:20621605|PMID:22772369|PMID:25741868|PMID:27196444|PMID:28492532|PMID:30773290|PMID:32111193|PMID:32220227|PMID:7847351 8844121 Mtmr10 myotubularin related protein 10 gene DOID:12849 autistic disorder ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8844121 Mtmr10 myotubularin related protein 10 gene DOID:5419 schizophrenia ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8844121 Mtmr10 myotubularin related protein 10 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8844121 Mtmr10 myotubularin related protein 10 gene DOID:630 genetic disease ISO RGD:1606536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8844121 Mtmr10 myotubularin related protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8844121 Mtmr10 myotubularin related protein 10 gene DOID:9256 colorectal cancer ISO RGD:1606536 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 8844144 Krt222 keratin 222 gene DOID:630 genetic disease ISO RGD:1606170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:70498 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:0081154 common variable immunodeficiency 12 ISO RGD:730892 D RGD:7240710 20180130 OMIM 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:0081154 common variable immunodeficiency 12 ISO RGD:730892 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 | ClinVar Annotator: match by term: NFKB1-related condition PMID:11583829|PMID:16199547|PMID:16639407|PMID:25741868|PMID:26279205|PMID:27365489|PMID:28492532|PMID:29077208|PMID:29477724|PMID:31803180|PMID:32278790|PMID:32499645|PMID:32581362|PMID:32918165|PMID:34447408|PMID:36105815|PMID:9383370 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:730892 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:730892 D RGD:9068941 20200609 RGD PMID:26068031|REF_RGD_ID:11054182 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:indel:promoter PMID:26788504|REF_RGD_ID:11554936 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:10283 prostate cancer treatment ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:28797847|REF_RGD_ID:13506729 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:10534 stomach cancer ISO RGD:730892 D RGD:9068941 20210528 RGD human cells in mouse model; associated with mental depression; protein:increased phosphorylation:stomach (human) PMID:31396300|REF_RGD_ID:126908003 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:12155 lymphocytic choriomeningitis severity ISO RGD:730893 D RGD:9068941 20201218 RGD PMID:20565293|REF_RGD_ID:40902858 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:12177 common variable immunodeficiency ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:25741868|PMID:26279205|PMID:28492532|PMID:29477724|PMID:32278790|PMID:32499645|PMID:32581362|PMID:32918165 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:12236 primary biliary cholangitis ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:70498 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:12858 Huntington's disease severity ISO RGD:730893 D RGD:9068941 20200609 RGD PMID:11211235|REF_RGD_ID:10045663 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:1324 lung cancer disease_progression ISO RGD:730892 D RGD:9068941 20220224 RGD PMID:26300007|REF_RGD_ID:11535492 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:1324 lung cancer exacerbates ISO RGD:730893 D RGD:9068941 20220224 RGD PMID:26300007|REF_RGD_ID:11535492 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:1596 depressive disorder ISO RGD:730893 D RGD:9068941 20210528 RGD protein:increased phosphorylation:hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:1612 breast cancer treatment ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:28797847|REF_RGD_ID:13506729 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:1909 melanoma ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:insertion(s) PMID:17492467|REF_RGD_ID:2298900 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:224 transient cerebral ischemia ISO RGD:70498 D RGD:9068941 20200609 RGD protein:increased expression:hippocampal pyramidal neuron, nucleus (rat) PMID:9158652|REF_RGD_ID:10045943 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:2316 brain ischemia ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18628779 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:299 adenocarcinoma ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:3021 acute kidney failure ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:321 tropical spastic paraparesis susceptibility ISO RGD:730892 D RGD:9068941 20201218 RGD DNA:SNP:5'utr: (rs3138045) (human) PMID:22170554|REF_RGD_ID:39018559 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:3633 beta-mannosidosis ISO RGD:730892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730892 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:17899287|REF_RGD_ID:13793391 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:730892 D RGD:9068941 20200609 RGD DNA:polymorphism:rs28362491(human) PMID:26221384|REF_RGD_ID:13793390 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:730892 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:27919956|REF_RGD_ID:13451128 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:409 liver disease ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15743782 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:5119 ovarian cyst ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:612 primary immunodeficiency disease ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:26279205|PMID:28492532|PMID:29077208|PMID:29403474|PMID:29477724|PMID:31803180|PMID:32499645|PMID:32581362|PMID:32918165 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:630 genetic disease ISO RGD:730892 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:35003082|PMID:36105815 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:649 prion disease severity ISO RGD:730893 D RGD:9068941 20201218 RGD PMID:17573907|REF_RGD_ID:40902830 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730892 D RGD:9068941 20201211 RGD associated with Chronic Hepatitis B;DNA:insertion/deletion:3'utr: -94ins/delATTG (rs28720239) (human) PMID:19797428|REF_RGD_ID:40400751 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:70498 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:783 end stage renal disease ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:8929 atrophic gastritis severity ISO RGD:730893 D RGD:9068941 20201218 RGD associated with Helicobacter Infections PMID:23975431|REF_RGD_ID:40902973 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730892 D RGD:9068941 20200609 RGD associated with prostate cancer PMID:17974971|REF_RGD_ID:13506764 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9001455 Intestinal Helminthiasis disease_progression ISO RGD:730893 D RGD:9068941 20201225 RGD PMID:12370384|REF_RGD_ID:40902988 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9001479 Cerebral Toxoplasmosis severity ISO RGD:730893 D RGD:9068941 20201218 RGD PMID:20156658|REF_RGD_ID:40902838 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9002189 High Myopia ISO RGD:730892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:70498 D RGD:9068941 20200609 RGD protein:increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472|PMID:20715105 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:730892 D RGD:9068941 20201225 RGD DNA:insertion:promoter: -94insATTG (rs28362491) (human) PMID:26827631|REF_RGD_ID:11572306 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9004649 Heat Stroke ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9004912 Hyperoxaluria ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284884 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:730892 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:730892 D RGD:9068941 20201225 RGD associated with tuberculosis ;DNA:SNPs,haplotypes: 3'utr,5'utr: (rs78872571,rs4647992) (human) PMID:31490979|REF_RGD_ID:40902984 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:70498 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:730893 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20516118|PMID:28823542 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9008865 Entamoebiasis severity ISO RGD:730893 D RGD:9068941 20201218 RGD PMID:20086086|REF_RGD_ID:40902842 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9256 colorectal cancer ISO RGD:730893 D RGD:9068941 20201218 RGD associated with Experimental Colitis PMID:25727407|REF_RGD_ID:40902978 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17107852 8844173 Nfkb1 nuclear factor kappa B subunit 1 gene DOID:9452 steatotic liver disease ISO RGD:70498 D RGD:9068941 20200609 RGD PMID:21643627|REF_RGD_ID:5135028 8844207 Rala RAS like proto-oncogene A gene DOID:1059 intellectual disability ISO RGD:1354223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11701921|PMID:15950903|PMID:15980073|PMID:25741868|PMID:28492532|PMID:30500825|PMID:30761613 8844207 Rala RAS like proto-oncogene A gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1354223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 8844207 Rala RAS like proto-oncogene A gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1354223 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:29113235|REF_RGD_ID:14394418 8844207 Rala RAS like proto-oncogene A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1354223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8844207 Rala RAS like proto-oncogene A gene DOID:630 genetic disease ISO RGD:1354223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11701921|PMID:15950903|PMID:15980073|PMID:25741868|PMID:28492532|PMID:30500825|PMID:30761613 8844207 Rala RAS like proto-oncogene A gene DOID:9008002 HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME ISO RGD:1354223 D RGD:7240710 20210623 OMIM 8844207 Rala RAS like proto-oncogene A gene DOID:9008002 HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME ISO RGD:1354223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hiatt-Neu-Cooper neurodevelopmental syndrome | ClinVar Annotator: match by term: RALA-related condition PMID:11701921|PMID:15950903|PMID:15980073|PMID:25741868|PMID:28492532|PMID:30500825|PMID:30761613 8844232 Cops3 COP9 signalosome subunit 3 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1350505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8844232 Cops3 COP9 signalosome subunit 3 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1350505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8844232 Cops3 COP9 signalosome subunit 3 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1350505 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8844232 Cops3 COP9 signalosome subunit 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350505 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8844232 Cops3 COP9 signalosome subunit 3 gene DOID:12849 autistic disorder ISO RGD:1350505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8844232 Cops3 COP9 signalosome subunit 3 gene DOID:630 genetic disease ISO RGD:1350505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844232 Cops3 COP9 signalosome subunit 3 gene DOID:9005369 Hepatomegaly ISO RGD:1350505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8844256 Crocc ciliary rootlet coiled-coil, rootletin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1313346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8844256 Crocc ciliary rootlet coiled-coil, rootletin gene DOID:5426 primary ovarian insufficiency ISO RGD:1313346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8844256 Crocc ciliary rootlet coiled-coil, rootletin gene DOID:630 genetic disease ISO RGD:1313346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8844299 Gpank1 G-patch domain and ankyrin repeats 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1321766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8844299 Gpank1 G-patch domain and ankyrin repeats 1 gene DOID:11372 megacolon ISO RGD:1321766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8844299 Gpank1 G-patch domain and ankyrin repeats 1 gene DOID:630 genetic disease ISO RGD:1321766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0080205 CAKUT ISO RGD:1347992 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:24700879|PMID:25741868|PMID:28492532|PMID:30143558 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0090001 Fraser syndrome ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:25741868 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1347992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:17576681|PMID:18203166|PMID:25741868|PMID:26275891|PMID:26552811|PMID:28492532|PMID:9536098 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111407 Fraser syndrome 2 ISO RGD:1347992 D RGD:7240710 20190315 OMIM 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111407 Fraser syndrome 2 ISO RGD:1347992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2 PMID:15838507|PMID:18203166|PMID:18671281|PMID:24115501|PMID:24700879|PMID:25741868|PMID:26275891|PMID:26489029|PMID:26552811|PMID:28492532|PMID:29618029|PMID:29688405|PMID:30143558|PMID:30773290|PMID:30802441|PMID:30838450|PMID:34837691|PMID:36360262 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111716 cryptophthalmia ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptophthalmia PMID:25741868 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1347992 D RGD:7240710 20200325 OMIM 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1347992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:17576681|PMID:18203166|PMID:24115501|PMID:25741868|PMID:26275891|PMID:26552811|PMID:28492532|PMID:29618029|PMID:29688405|PMID:30143558|PMID:30802441|PMID:30838450|PMID:9536098 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:10283 prostate cancer ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:10907 microcephaly ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:1923 disorder of sexual development ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:25741868 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532|PMID:30143558 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:5419 schizophrenia ISO RGD:1347992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:630 genetic disease ISO RGD:1347992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1347992 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:28492532 8844310 Frem2 FRAS1 related extracellular matrix 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1347992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8844338 Meox2 mesenchyme homeobox 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8844338 Meox2 mesenchyme homeobox 2 gene DOID:5844 myocardial infarction ISO RGD:3079 D RGD:9068941 20230128 RGD protein:decreased expression:heart (rat) PMID:24155330|REF_RGD_ID:155882536 8844338 Meox2 mesenchyme homeobox 2 gene DOID:630 genetic disease ISO RGD:733480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844338 Meox2 mesenchyme homeobox 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8844338 Meox2 mesenchyme homeobox 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:733480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8844354 Ppfia2 PTPRF interacting protein alpha 2 gene DOID:630 genetic disease ISO RGD:1312803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844429 Mrpl53 mitochondrial ribosomal protein L53 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8844429 Mrpl53 mitochondrial ribosomal protein L53 gene DOID:543 dystonia ISO RGD:1315480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8844429 Mrpl53 mitochondrial ribosomal protein L53 gene DOID:630 genetic disease ISO RGD:1315480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844429 Mrpl53 mitochondrial ribosomal protein L53 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8844441 Ccdc68 coiled-coil domain containing 68 gene DOID:1059 intellectual disability ISO RGD:1601959 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8844441 Ccdc68 coiled-coil domain containing 68 gene DOID:630 genetic disease ISO RGD:1601959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844441 Ccdc68 coiled-coil domain containing 68 gene DOID:9007479 Habitual Abortions ISO RGD:1601959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 8844456 Rnd1 Rho family GTPase 1 gene DOID:630 genetic disease ISO RGD:1314903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844471 Hpcal4 hippocalcin like 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1348718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8844471 Hpcal4 hippocalcin like 4 gene DOID:630 genetic disease ISO RGD:1348718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:731052 D RGD:9068941 20200609 RGD PMID:21220706|REF_RGD_ID:10400890 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:0060778 congenital diarrhea 7 with exudative enteropathy ISO RGD:731052 D RGD:7240710 20190904 OMIM 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:0060778 congenital diarrhea 7 with exudative enteropathy ISO RGD:731052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy PMID:16199547|PMID:23114594|PMID:25326635|PMID:25741868|PMID:26883093|PMID:28373485|PMID:28492532|PMID:29604290|PMID:30237576|PMID:31778854|PMID:33607125 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:1184 nephrotic syndrome ISO RGD:628673 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:15200432|REF_RGD_ID:10400845 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:13250 diarrhea ISO RGD:731052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:4621 holoprosencephaly ISO RGD:731052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:731053 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease; PMID:18000880|REF_RGD_ID:10400849 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:731052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23114594|PMID:25326635|PMID:25741868|PMID:26883093|PMID:28492532 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:784 chronic kidney disease ISO RGD:628673 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:23045433|REF_RGD_ID:10400847 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:731053 D RGD:9068941 20200609 RGD PMID:18183944|REF_RGD_ID:10401058 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:731053 D RGD:9068941 20200609 RGD PMID:21990351|REF_RGD_ID:10401057 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:628673 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:17047345|REF_RGD_ID:13782261 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:9970 obesity ISO RGD:731053 D RGD:9068941 20200609 RGD PMID:10802663|REF_RGD_ID:734536 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:9970 obesity no_association ISO RGD:731052 D RGD:9068941 20200609 RGD DNA:polymorphism:C97T PMID:14569040|REF_RGD_ID:1625597 8844479 Dgat1 diacylglycerol O-acyltransferase 1 gene DOID:9970 obesity treatment ISO RGD:731053 D RGD:9068941 20200609 RGD PMID:18183944|REF_RGD_ID:10401058 8844512 Brd3 bromodomain containing 3 gene DOID:0050902 medulloblastoma ISO RGD:1318974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24231268 8844512 Brd3 bromodomain containing 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8844512 Brd3 bromodomain containing 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8844512 Brd3 bromodomain containing 3 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1318974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8844512 Brd3 bromodomain containing 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8844512 Brd3 bromodomain containing 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8844512 Brd3 bromodomain containing 3 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1318974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8844512 Brd3 bromodomain containing 3 gene DOID:3652 Leigh disease ISO RGD:1318974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8844512 Brd3 bromodomain containing 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1318974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8844512 Brd3 bromodomain containing 3 gene DOID:630 genetic disease ISO RGD:1318974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733597 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733597 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0081097 Rafiq syndrome ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:733597 D RGD:9068941 20200609 RGD DNA:deletion:intron:c.1159-14_-22del (human) PMID:17235395|REF_RGD_ID:11567265 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia ISO RGD:733597 D RGD:7240710 20180130 OMIM 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia ISO RGD:733597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia | ClinVar Annotator: match by term: NSMF-related condition PMID:15362570|PMID:17235395|PMID:21700882|PMID:25741868 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:0110980 Joubert syndrome 1 ISO RGD:733597 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:1826 epilepsy ISO RGD:733597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:305 carcinoma ISO RGD:733597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:630 genetic disease ISO RGD:733597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:733597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8844528 Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8844557 Epb41l4b erythrocyte membrane protein band 4.1 like 4B gene DOID:630 genetic disease ISO RGD:1320612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1551787 D RGD:9068941 20220825 MouseDO 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1346592 D RGD:7240710 20180130 OMIM 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:0070052 autosomal dominant intellectual developmental disorder 22 ISO RGD:1346592 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder | ClinVar Annotator: match by term: ZBTB18-related condition PMID:24193349|PMID:25741868|PMID:26740508|PMID:27598823|PMID:28135719|PMID:28283832|PMID:28492532|PMID:29158550|PMID:29573576|PMID:31238879|PMID:33608456 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1346592 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:1059 intellectual disability ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:27598823|PMID:28135719|PMID:28283832|PMID:29573576 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:630 genetic disease ISO RGD:1346592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:26740508|PMID:27598823|PMID:28135719|PMID:28283832|PMID:28492532 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1346592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:25087610 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:9008086 Developmental Disabilities ISO RGD:1346592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 8844648 Zbtb18 zinc finger and BTB domain containing 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8844665 Dap death associated protein gene DOID:630 genetic disease ISO RGD:737267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844665 Dap death associated protein gene DOID:8577 ulcerative colitis ISO RGD:737267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:0050328 congenital hypothyroidism ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:736428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10700480|PMID:10874637|PMID:10902795|PMID:11317356|PMID:11502831|PMID:11748854|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12676893|PMID:12974744|PMID:14508505|PMID:14679580|PMID:15355436|PMID:15574297|PMID:15679828|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16283880|PMID:16460646|PMID:16570074|PMID:16711435|PMID:16924389|PMID:16950989|PMID:17309986|PMID:17443271|PMID:17576681|PMID:17718863|PMID:17766716|PMID:18167283|PMID:18285825|PMID:18641518|PMID:18813951|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19287372|PMID:19426954|PMID:19509082|PMID:19608655|PMID:19786220|PMID:20137612|PMID:20597900|PMID:20668687|PMID:20842945|PMID:21154317|PMID:21366435|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116360|PMID:22903915|PMID:23151025|PMID:23185506|PMID:23273637|PMID:23296490|PMID:23336812|PMID:23504402|PMID:23638949|PMID:23718755|PMID:23770805|PMID:23918157|PMID:23958391|PMID:23965030|PMID:24007330|PMID:24033266|PMID:24105851|PMID:24224479|PMID:24248179|PMID:24338212|PMID:24949729|PMID:25015771|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25372295|PMID:25394566|PMID:25468468|PMID:25491636|PMID:25525159|PMID:25741868|PMID:26100058|PMID:26226137|PMID:26252218|PMID:26445815|PMID:26683941|PMID:26752218|PMID:26763877|PMID:27541434|PMID:27573290|PMID:27771369|PMID:28444304|PMID:28492532|PMID:28604962|PMID:28941661|PMID:28964290|PMID:29372807|PMID:30077349|PMID:30303587|PMID:30311386|PMID:30622556|PMID:30693673|PMID:30760291|PMID:31581539|PMID:31599023|PMID:31700827|PMID:31971949|PMID:32417962|PMID:32447495|PMID:32747562|PMID:34170635|PMID:34599368|PMID:9398842|PMID:9536098|PMID:9618166|PMID:9618167 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:7240710 20180130 OMIM 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition PMID:10190331|PMID:10571950|PMID:10602116|PMID:10700480|PMID:10718825|PMID:10861298|PMID:10874637|PMID:10878664|PMID:10902795|PMID:11317356|PMID:11375792|PMID:11405873|PMID:11502831|PMID:11700190|PMID:11716048|PMID:11748854|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12354788|PMID:12642503|PMID:12676893|PMID:12788906|PMID:12920581|PMID:12974744|PMID:14508505|PMID:14679580|PMID:14715652|PMID:15099345|PMID:15279074|PMID:15355436|PMID:15531480|PMID:15574297|PMID:15611902|PMID:15679828|PMID:15689455|PMID:15720248|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16199547|PMID:16275403|PMID:16283880|PMID:16460646|PMID:16482981|PMID:16570074|PMID:16684826|PMID:16711435|PMID:16773579|PMID:16791000|PMID:16914891|PMID:16924389|PMID:16950989|PMID:16952406|PMID:17125574|PMID:17146393|PMID:17309986|PMID:17322586|PMID:17357124|PMID:17443271|PMID:17503324|PMID:17576681|PMID:17697873|PMID:17718863|PMID:17766716|PMID:17851929|PMID:17876604|PMID:17940114|PMID:18075246|PMID:18167283|PMID:18250610|PMID:18274916|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:18381613|PMID:18427006|PMID:18585793|PMID:18641518|PMID:18665027|PMID:18813951|PMID:18988928|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19189692|PMID:19199245|PMID:1920407|PMID:19204907|PMID:19287372|PMID:19318451|PMID:19426954|PMID:19429184|PMID:19509082|PMID:19565036|PMID:19578036|PMID:19608655|PMID:19615760|PMID:19620588|PMID:19645628|PMID:19648736|PMID:19718752|PMID:19744334|PMID:19786220|PMID:19787632|PMID:19888295|PMID:20128824|PMID:20137612|PMID:20146813|PMID:20301640|PMID:20483489|PMID:20553101|PMID:20583162|PMID:20597900|PMID:20601923|PMID:20621367|PMID:20623167|PMID:20668687|PMID:20826203|PMID:20842945|PMID:20981092|PMID:21045265|PMID:21154317|PMID:21366435|PMID:21416585|PMID:21551164|PMID:21557232|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116359|PMID:22116360|PMID:22285650|PMID:22289209|PMID:22384008|PMID:22389666|PMID:22412181|PMID:22717225|PMID:22796198|PMID:22884721|PMID:22903915|PMID:22975760|PMID:23151025|PMID:23151031|PMID:23185506|PMID:23208854|PMID:23266159|PMID:23273637|PMID:23280318|PMID:23296490|PMID:23336812|PMID:23385134|PMID:23401162|PMID:23504402|PMID:23555729|PMID:23617710|PMID:23638949|PMID:23705809|PMID:23718755|PMID:23755160|PMID:23770805|PMID:23804846|PMID:23838540|PMID:23918157|PMID:23958391|PMID:23965030|PMID:23967202|PMID:23980138|PMID:24007330|PMID:24033266|PMID:24051746|PMID:24105851|PMID:24156272|PMID:24222258|PMID:2422447|PMID:24224479|PMID:24245694|PMID:24248179|PMID:24338212|PMID:24341454|PMID:24599119|PMID:24612839|PMID:24804242|PMID:24853665|PMID:24860705|PMID:24875928|PMID:24913939|PMID:24949729|PMID:25015771|PMID:25149764|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25358692|PMID:25372295|PMID:25373420|PMID:25394566|PMID:25468468|PMID:25488846|PMID:25491636|PMID:25525159|PMID:25528277|PMID:25587757|PMID:25724631|PMID:25741868|PMID:25761933|PMID:25788563|PMID:25830873|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26022370|PMID:26035154|PMID:26100058|PMID:26188157|PMID:26226137|PMID:26252218|PMID:26346818|PMID:26397989|PMID:26445815|PMID:26467025|PMID:26485571|PMID:26549381|PMID:26683941|PMID:26744121|PMID:26752218|PMID:26763877|PMID:26764160|PMID:26886069|PMID:26886089|PMID:26894580|PMID:26900070|PMID:26969326|PMID:27068579|PMID:27090054|PMID:27214836|PMID:27240500|PMID:27246798|PMID:27247933|PMID:27344577|PMID:27373559|PMID:27466889|PMID:27541434|PMID:27573290|PMID:27610647|PMID:27771369|PMID:27792752|PMID:27861301|PMID:27863619|PMID:27884173|PMID:27997596|PMID:28000701|PMID:28215547|PMID:28273078|PMID:28281779|PMID:28341401|PMID:28389359|PMID:28444304|PMID:28492532|PMID:28576516|PMID:28604962|PMID:28717060|PMID:28786104|PMID:28901477|PMID:28941661|PMID:28964290|PMID:28984810|PMID:29048421|PMID:29196752|PMID:29293505|PMID:29320412|PMID:29372807|PMID:29501320|PMID:29546359|PMID:29605365|PMID:29739340|PMID:29907799|PMID:30068397|PMID:30077349|PMID:30086623|PMID:30113565 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:0060744 Pendred syndrome ISO RGD:736428 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition PMID:30139988|PMID:30154845|PMID:30240412|PMID:30245029|PMID:30268946|PMID:30303587|PMID:30311386|PMID:30484383|PMID:30622556|PMID:30693673|PMID:30760291|PMID:30842343|PMID:30896630|PMID:31020658|PMID:31033086|PMID:31035178|PMID:31095577|PMID:31107121|PMID:31124793|PMID:31387071|PMID:31427586|PMID:31541171|PMID:31581539|PMID:31589614|PMID:31599023|PMID:31633822|PMID:31656273|PMID:31700827|PMID:31971949|PMID:32165640|PMID:32417962|PMID:32447495|PMID:32459320|PMID:32645618|PMID:32658404|PMID:32681043|PMID:32747562|PMID:32770655|PMID:33111345|PMID:33152970|PMID:33199029|PMID:33502066|PMID:33528103|PMID:33597575|PMID:33614372|PMID:33801843|PMID:34161886|PMID:34170635|PMID:34171171|PMID:34410491|PMID:34426522|PMID:34539567|PMID:34545167|PMID:34599368|PMID:34632506|PMID:34680964|PMID:34752165|PMID:34801268|PMID:35249537|PMID:35276235|PMID:35802133|PMID:35816303|PMID:35982127|PMID:36633841|PMID:8285825|PMID:8541853|PMID:8630498|PMID:9070918|PMID:9398842|PMID:9500541|PMID:9536098|PMID:9604973|PMID:9618166|PMID:9618167|PMID:9920104 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:12676893|PMID:19287372|PMID:24033266|PMID:25741868|PMID:28492532 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:7240710 20180130 OMIM 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:10190331|PMID:10602116|PMID:10700480|PMID:10718825|PMID:10861298|PMID:10874637|PMID:10878664|PMID:10902795|PMID:11317356|PMID:11375792|PMID:11405873|PMID:11502831|PMID:11558900|PMID:11700190|PMID:11748854|PMID:11905055|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12354788|PMID:12642503|PMID:12676893|PMID:12788906|PMID:12974744|PMID:14508505|PMID:14679580|PMID:14715652|PMID:15099345|PMID:15279074|PMID:15355436|PMID:15531480|PMID:15574297|PMID:15679828|PMID:15689455|PMID:15720248|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16199547|PMID:16283880|PMID:16460646|PMID:16570074|PMID:16684826|PMID:16711435|PMID:16773579|PMID:16791000|PMID:16914891|PMID:16924389|PMID:16950989|PMID:16952406|PMID:17146393|PMID:17309986|PMID:17322586|PMID:17357124|PMID:17443271|PMID:17503324|PMID:17576681|PMID:17697873|PMID:17718863|PMID:17766716|PMID:17851929|PMID:17876604|PMID:17940114|PMID:18167283|PMID:18274916|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:18381613|PMID:18427006|PMID:18585793|PMID:18641518|PMID:18813951|PMID:18988928|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19204907|PMID:19287372|PMID:19426954|PMID:19429184|PMID:19509082|PMID:19565036|PMID:19578036|PMID:19608655|PMID:19615760|PMID:19620588|PMID:19645628|PMID:19648736|PMID:19718752|PMID:19744334|PMID:19786220|PMID:19787632|PMID:19888295|PMID:20128824|PMID:20301640|PMID:20553101|PMID:20583162|PMID:20597900|PMID:20601923|PMID:20621367|PMID:20668687|PMID:20826203|PMID:20842945|PMID:20981092|PMID:21045265|PMID:21154317|PMID:21366435|PMID:21416585|PMID:21551164|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116359|PMID:22116360|PMID:22285650|PMID:22289209|PMID:22384008|PMID:22389666|PMID:22412181|PMID:22717225|PMID:22796198|PMID:22884721|PMID:22903915|PMID:22975760|PMID:23151025|PMID:23151031|PMID:23185506|PMID:23208854|PMID:23266159|PMID:23273637|PMID:23280318|PMID:23296490|PMID:23336812|PMID:23385134|PMID:23401162|PMID:23504402|PMID:23555729|PMID:23638949|PMID:23705809|PMID:23718755|PMID:23770805|PMID:23804846|PMID:23838540|PMID:23918157|PMID:23958391|PMID:23965030|PMID:23967202|PMID:23980138|PMID:24007330|PMID:24033266|PMID:24051746|PMID:24105851|PMID:24156272|PMID:24224479|PMID:24245694|PMID:24248179|PMID:24338212|PMID:24341454|PMID:24599119|PMID:24612839|PMID:24853665|PMID:24860705|PMID:24875928|PMID:24913939|PMID:24949729|PMID:24989646|PMID:25149764|PMID:25262649|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25372295|PMID:25373420|PMID:25394566|PMID:25468468|PMID:25491636|PMID:25525159|PMID:25572613|PMID:25587757|PMID:25741868|PMID:25761933|PMID:25788563|PMID:25830873|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26022370|PMID:26035154|PMID:26100058|PMID:26188157|PMID:26226137|PMID:26252218|PMID:26346818|PMID:26397989|PMID:26445815|PMID:26467025|PMID:26485571|PMID:26549381|PMID:26683941|PMID:26744121|PMID:26752218|PMID:26763877|PMID:26764160|PMID:26886089|PMID:26894580|PMID:26900070|PMID:26969326|PMID:27214836|PMID:27246798|PMID:27344577|PMID:27373559|PMID:27541434|PMID:27573290|PMID:27771369|PMID:27861301|PMID:27884173|PMID:27997596|PMID:28000701|PMID:28273078|PMID:28281779|PMID:28341401|PMID:28444304|PMID:28492532|PMID:28604962|PMID:28717060|PMID:28786104|PMID:28941661|PMID:28964290|PMID:28984810|PMID:29048421|PMID:29196752|PMID:29293505|PMID:29372807|PMID:29546359|PMID:29739340|PMID:29907799|PMID:30068397|PMID:30077349|PMID:30086623|PMID:30139988|PMID:30240412|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30484383|PMID:30622556|PMID:30693673|PMID:30760291|PMID:31020658|PMID:31033086|PMID:31035178|PMID:31095577|PMID:31124793|PMID:31387071|PMID:31427586|PMID:31581539|PMID:31589614|PMID:31599023|PMID:31633822|PMID:31700827|PMID:31971949|PMID:32165640|PMID:32447495|PMID:32645618|PMID:32747562|PMID:33111345|PMID:33152970|PMID:33597575|PMID:33614372|PMID:34171171|PMID:34545167|PMID:34599368|PMID:8285825|PMID:8541853|PMID:8630498|PMID:9070918|PMID:9398842|PMID:9500541|PMID:9536098|PMID:9604973|PMID:9618166|PMID:9618167 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder PMID:10190331|PMID:10571950|PMID:10602116|PMID:10700480|PMID:10718825|PMID:10861298|PMID:10874637|PMID:10878664|PMID:10902795|PMID:11317356|PMID:11375792|PMID:11405873|PMID:11502831|PMID:11558900|PMID:11700190|PMID:11716048|PMID:11748854|PMID:11905055|PMID:11919333|PMID:11932316|PMID:12112665|PMID:12354788|PMID:12642503|PMID:12676893|PMID:12788906|PMID:12920581|PMID:12974744|PMID:14508505|PMID:14679580|PMID:14715652|PMID:15099345|PMID:15279074|PMID:15355436|PMID:15531480|PMID:15574297|PMID:15611902|PMID:15679828|PMID:15689455|PMID:15720248|PMID:15747138|PMID:15811013|PMID:15933521|PMID:16053392|PMID:16086271|PMID:16199547|PMID:16283880|PMID:16460646|PMID:16570074|PMID:16684826|PMID:16711435|PMID:16773579|PMID:16791000|PMID:16914891|PMID:16924389|PMID:16950989|PMID:16952406|PMID:17125574|PMID:17146393|PMID:17309986|PMID:17322586|PMID:17357124|PMID:17443271|PMID:17503324|PMID:17576681|PMID:17697873|PMID:17718863|PMID:17766716|PMID:17851929|PMID:17876604|PMID:17940114|PMID:18167283|PMID:18250610|PMID:18274916|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:18381613|PMID:18427006|PMID:18585793|PMID:18641518|PMID:18665027|PMID:18813951|PMID:18988928|PMID:19017801|PMID:19040761|PMID:19169484|PMID:19189692|PMID:1920407|PMID:19204907|PMID:19287372|PMID:19318451|PMID:19426954|PMID:19429184|PMID:19509082|PMID:19565036|PMID:19578036|PMID:19608655|PMID:19615760|PMID:19620588|PMID:19645628|PMID:19648736|PMID:19718752|PMID:19744334|PMID:19786220|PMID:19787632|PMID:19888295|PMID:20128824|PMID:20146813|PMID:20301640|PMID:20553101|PMID:20583162|PMID:20597900|PMID:20601923|PMID:20621367|PMID:20623167|PMID:20668687|PMID:20826203|PMID:20842945|PMID:20981092|PMID:21045265|PMID:21154317|PMID:21366435|PMID:21416585|PMID:21551164|PMID:21557232|PMID:21704276|PMID:21961810|PMID:22116358|PMID:22116359|PMID:22116360|PMID:22285650|PMID:22289209|PMID:22384008|PMID:22389666|PMID:22412181|PMID:22717225|PMID:22796198|PMID:22884721|PMID:22903915|PMID:22975760|PMID:23151025|PMID:23151031|PMID:23185506|PMID:23208854|PMID:23266159|PMID:23273637|PMID:23280318|PMID:23296490|PMID:23336812|PMID:23385134|PMID:23401162|PMID:23504402|PMID:23555729|PMID:23617710|PMID:23638949|PMID:23705809|PMID:23718755|PMID:23755160|PMID:23770805|PMID:23804846|PMID:23838540|PMID:23918157|PMID:23958391|PMID:23965030|PMID:23967202|PMID:23980138|PMID:24007330|PMID:24033266|PMID:24051746|PMID:24105851|PMID:24156272|PMID:24222258|PMID:2422447|PMID:24224479|PMID:24245694|PMID:24248179|PMID:24338212|PMID:24341454|PMID:24599119|PMID:24612839|PMID:24853665|PMID:24860705|PMID:24875928|PMID:24913939|PMID:24949729|PMID:24989646|PMID:25149764|PMID:25262649|PMID:25266519|PMID:25290043|PMID:25317404|PMID:25372295|PMID:25373420|PMID:25394566|PMID:25468468|PMID:25488846|PMID:25491636|PMID:25525159|PMID:25572613|PMID:25587757|PMID:25724631|PMID:25741868|PMID:25761933|PMID:25788563|PMID:25830873|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26022370|PMID:26035154|PMID:26100058|PMID:26188157|PMID:26226137|PMID:26252218|PMID:26346818|PMID:26397989|PMID:26445815|PMID:26467025|PMID:26485571|PMID:26549381|PMID:26683941|PMID:26744121|PMID:26752218|PMID:26763877|PMID:26764160|PMID:26886069|PMID:26886089|PMID:26894580|PMID:26900070|PMID:26969326|PMID:27090054|PMID:27214836|PMID:27240500|PMID:27246798|PMID:27247933|PMID:27344577|PMID:27373559|PMID:27541434|PMID:27573290|PMID:27610647|PMID:27771369|PMID:27792752|PMID:27861301|PMID:27863619|PMID:27884173|PMID:27997596|PMID:28000701|PMID:28215547|PMID:28273078|PMID:28281779|PMID:28341401|PMID:28389359|PMID:28444304|PMID:28492532|PMID:28576516|PMID:28604962|PMID:28717060|PMID:28786104|PMID:28901477|PMID:28941661|PMID:28964290|PMID:28984810|PMID:29048421|PMID:29196752|PMID:29293505|PMID:29320412|PMID:29372807|PMID:29501320|PMID:29546359|PMID:29605365|PMID:29739340|PMID:29907799|PMID:30068397|PMID:30077349|PMID:30086623|PMID:30139988|PMID:30154845|PMID:30240412|PMID:30245029|PMID:30268946|PMID:30303587|PMID:30311386|PMID:30484383|PMID:30554688 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:736428 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder PMID:30622556|PMID:30693673|PMID:30760291|PMID:30842343|PMID:30896630|PMID:31020658|PMID:31033086|PMID:31035178|PMID:31095577|PMID:31107121|PMID:31124793|PMID:31387071|PMID:31427586|PMID:31541171|PMID:31581539|PMID:31589614|PMID:31599023|PMID:31633822|PMID:31656273|PMID:31700827|PMID:31971949|PMID:32165640|PMID:32251972|PMID:32417962|PMID:32447495|PMID:32459320|PMID:32645618|PMID:32658404|PMID:32681043|PMID:32747562|PMID:33111345|PMID:33152970|PMID:33199029|PMID:33502066|PMID:33528103|PMID:33597575|PMID:33614372|PMID:33801843|PMID:34161886|PMID:34170635|PMID:34171171|PMID:34410491|PMID:34426522|PMID:34539567|PMID:34545167|PMID:34599368|PMID:34680964|PMID:34752165|PMID:34801268|PMID:35249537|PMID:35276235|PMID:35802133|PMID:35816303|PMID:36633841|PMID:8285825|PMID:8541853|PMID:8630498|PMID:8964290|PMID:9070918|PMID:9398842|PMID:9500541|PMID:9536098|PMID:9604973|PMID:9618166|PMID:9618167|PMID:9920104 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:736428 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 7 PMID:10700480|PMID:11932316|PMID:14508505|PMID:16570074|PMID:16950989|PMID:18381613|PMID:23555729|PMID:24033266|PMID:25262649|PMID:25741868|PMID:26969326|PMID:27771369|PMID:28492532|PMID:30245029|PMID:31599023|PMID:32165640|PMID:33111345|PMID:34410491 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:736428 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:10700480|PMID:11932316|PMID:14508505|PMID:16570074|PMID:16950989|PMID:18381613|PMID:23555729|PMID:24033266|PMID:25262649|PMID:25741868|PMID:26969326|PMID:27771369|PMID:28492532|PMID:30245029|PMID:31599023|PMID:32165640|PMID:33111345|PMID:34410491 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:736428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15279074|PMID:16053392|PMID:17322586 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:10763 hypertension ISO RGD:736429 D RGD:9068941 20200609 RGD PMID:17120771|REF_RGD_ID:7411553 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:12176 goiter ISO RGD:736428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15279074|PMID:16053392|PMID:17322586 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:12176 goiter ISO RGD:736428 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human) PMID:12974744|REF_RGD_ID:1599217 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:1459 hypothyroidism ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:736428 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:11317356|PMID:12642503|PMID:14679580|PMID:15099345|PMID:15355436|PMID:16570074|PMID:16950989|PMID:17503324|PMID:18285825|PMID:19017801|PMID:20597900|PMID:22285650|PMID:23336812|PMID:24033266|PMID:24224479|PMID:25372295|PMID:25394566|PMID:25741868|PMID:28492532|PMID:31541171|PMID:31589614|PMID:34426522 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:630 genetic disease ISO RGD:736428 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15355436|PMID:23185506|PMID:24033266|PMID:25741868|PMID:25788563|PMID:26467025|PMID:28492532|PMID:30311386|PMID:33152970 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:9002802 Acidoses ISO RGD:3293 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal cortex (rat) PMID:12388388|REF_RGD_ID:634144 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:9004538 Hearing Loss ISO RGD:736428 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10700480|PMID:10861298|PMID:11317356|PMID:11375792|PMID:11932316|PMID:12354788|PMID:12788906|PMID:14679580|PMID:15279074|PMID:15355436|PMID:15679828|PMID:15689455|PMID:16570074|PMID:16950989|PMID:17503324|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:19017801|PMID:19204907|PMID:19509082|PMID:19787632|PMID:20301640|PMID:20553101|PMID:20597900|PMID:20842945|PMID:21045265|PMID:21551164|PMID:22717225|PMID:23185506|PMID:23208854|PMID:23273637|PMID:23336812|PMID:23401162|PMID:23555729|PMID:23804846|PMID:23918157|PMID:23965030|PMID:24033266|PMID:24156272|PMID:24224479|PMID:25290043|PMID:25372295|PMID:25373420|PMID:25741868|PMID:25788563|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26445815|PMID:26683941|PMID:26752218|PMID:26763877|PMID:26969326|PMID:27771369|PMID:28273078|PMID:28492532|PMID:28964290|PMID:29196752|PMID:29546359|PMID:30068397|PMID:30139988|PMID:30240412|PMID:30245029|PMID:30311386|PMID:31599023|PMID:31633822|PMID:32747562|PMID:33152970|PMID:34599368|PMID:9070918|PMID:9500541|PMID:9618166|PMID:9618167 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:9004538 Hearing Loss ISO RGD:736428 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10700480|PMID:10861298|PMID:11317356|PMID:11375792|PMID:11932316|PMID:12354788|PMID:12788906|PMID:14679580|PMID:15279074|PMID:15355436|PMID:15679828|PMID:15689455|PMID:16570074|PMID:16950989|PMID:17503324|PMID:18283249|PMID:18285825|PMID:18310264|PMID:18322141|PMID:19017801|PMID:19204907|PMID:19509082|PMID:19787632|PMID:20301640|PMID:20553101|PMID:20597900|PMID:20842945|PMID:21045265|PMID:21551164|PMID:22717225|PMID:23185506|PMID:23208854|PMID:23273637|PMID:23336812|PMID:23401162|PMID:23555729|PMID:23804846|PMID:23918157|PMID:23965030|PMID:24033266|PMID:24156272|PMID:24224479|PMID:25290043|PMID:25372295|PMID:25373420|PMID:25741868|PMID:25788563|PMID:25910213|PMID:25991456|PMID:25999548|PMID:26445815|PMID:26683941|PMID:26752218|PMID:26763877|PMID:26969326|PMID:27771369|PMID:28273078|PMID:28492532|PMID:28964290|PMID:29196752|PMID:29293505|PMID:29320412|PMID:29546359|PMID:30068397|PMID:30139988|PMID:30240412|PMID:30245029|PMID:30311386|PMID:31599023|PMID:31633822|PMID:32747562|PMID:33152970|PMID:34599368|PMID:34680964|PMID:9070918|PMID:9500541|PMID:9618166|PMID:9618167 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:9005954 Mondini Dysplasia ISO RGD:736428 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:11317356|REF_RGD_ID:7421508 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:9006380 Bilateral Hearing Loss ISO RGD:736428 D RGD:9068941 20200609 RGD associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) PMID:19645628|REF_RGD_ID:7411669 8844704 Slc26a4 solute carrier family 26 member 4 gene DOID:9008681 Deafness ISO RGD:736428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness PMID:11317356|PMID:28492532|PMID:29372807|PMID:30303587|PMID:34170635 8844752 Sh3rf3 SH3 domain containing ring finger 3 gene DOID:630 genetic disease ISO RGD:1344960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844752 Sh3rf3 SH3 domain containing ring finger 3 gene DOID:670 amphetamine abuse ISO RGD:1344960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8844787 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8844787 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:735289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8844787 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735289 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8844787 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:0111969 immunodeficiency 39 ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8844787 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8844787 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8844787 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:630 genetic disease ISO RGD:735289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844787 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8844787 Rplp2 ribosomal protein lateral stalk subunit P2 gene DOID:9008939 Breast Neoplasms ISO RGD:735289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1604614 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:0050476 Barth syndrome ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:0112003 immunodeficiency 33 ISO RGD:1604614 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:10588 adrenoleukodystrophy ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:12849 autistic disorder ISO RGD:1604614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:13628 favism ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:2729 dyskeratosis congenita ISO RGD:1604614 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:607 paraplegia ISO RGD:1604614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:630 genetic disease ISO RGD:1604614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844796 Haus7 HAUS augmin like complex subunit 7 gene DOID:9002720 Splenomegaly ISO RGD:1604614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8844817 Trim24 tripartite motif containing 24 gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1350727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27238081 8844817 Trim24 tripartite motif containing 24 gene DOID:2394 ovarian cancer ISO RGD:1350727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8844817 Trim24 tripartite motif containing 24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8844817 Trim24 tripartite motif containing 24 gene DOID:630 genetic disease ISO RGD:1350727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844817 Trim24 tripartite motif containing 24 gene DOID:684 hepatocellular carcinoma ISO RGD:1350727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18026104 8844817 Trim24 tripartite motif containing 24 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8844839 Znf592 zinc finger protein 592 gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 PMID:12030328|PMID:20531441|PMID:25741868|PMID:26123727 8844839 Znf592 zinc finger protein 592 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1318632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531441 8844839 Znf592 zinc finger protein 592 gene DOID:10487 Hirschsprung's disease ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8844839 Znf592 zinc finger protein 592 gene DOID:2717 Bloom syndrome ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8844839 Znf592 zinc finger protein 592 gene DOID:3312 bipolar disorder ISO RGD:1318632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8844839 Znf592 zinc finger protein 592 gene DOID:630 genetic disease ISO RGD:1318632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844839 Znf592 zinc finger protein 592 gene DOID:9256 colorectal cancer ISO RGD:1318632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8844858 Eci2 enoyl-CoA delta isomerase 2 gene DOID:630 genetic disease ISO RGD:1607074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0060224 atrial fibrillation ISO RGD:1351428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1351428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1558001 D RGD:9068941 20220825 MouseDO 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1351428 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1351428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:1351428 D RGD:7240710 20180704 OMIM 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:1351428 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 PMID:11038441|PMID:11101850|PMID:11279527|PMID:11941538|PMID:16199547|PMID:16927315|PMID:17213231|PMID:20080505|PMID:20542149|PMID:20644199|PMID:21228398|PMID:23836246|PMID:24088041|PMID:24781210|PMID:24912484|PMID:25504735|PMID:25741868|PMID:25803036|PMID:26467025|PMID:26508570|PMID:26633545|PMID:27268795|PMID:27521129|PMID:27766954|PMID:28242392|PMID:28492532|PMID:29271572|PMID:29302074|PMID:29901129|PMID:30362252|PMID:35982159 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ISO RGD:1351428 D RGD:7240710 20180130 OMIM 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ISO RGD:1351428 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Dyssegmental Dysplasia | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan PMID:25741868|PMID:28492532 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:10763 hypertension ISO RGD:621770 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:8225534|REF_RGD_ID:1624258 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:10907 microcephaly ISO RGD:1351428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:13481 thanatophoric dysplasia ISO RGD:1558001 D RGD:9068941 20220825 MouseDO OMIM:187600 | OMIM:187601 | OMIM:273680 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1351428 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities PMID:25741868|PMID:28492532 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1351428 D RGD:9068941 20200609 RGD Schwartz-Jampel syndrome, OMIM:255800;DNA:missense mutations, splice-site mutations PMID:11101850|REF_RGD_ID:1624267 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:3407 carotid artery disease ISO RGD:1351428 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:carotid artery PMID:16620836|REF_RGD_ID:1624254 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:4195 hyperglycemia ISO RGD:1351428 D RGD:9068941 20200609 RGD protein:decreased expression:endothelial cell PMID:15056491|REF_RGD_ID:1624255 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:630 genetic disease ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30362252|PMID:30871259|PMID:9536098 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:65 connective tissue disease ISO RGD:1351428 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16927315|PMID:17576681|PMID:21228398|PMID:24088041|PMID:24781210|PMID:25504735|PMID:25741868|PMID:25803036|PMID:26467025|PMID:26633545|PMID:28492532|PMID:29271572|PMID:9536098 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9004577 Stuve-Wiedemann Syndrome ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:25741868|PMID:28492532 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9005084 Kniest Like Dysplasia Lethal ISO RGD:1351428 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:11279527|PMID:17576681|PMID:24088041|PMID:24781210|PMID:25504735|PMID:25741868|PMID:25741881|PMID:25803036|PMID:26467025|PMID:26508570|PMID:26633545|PMID:28242392|PMID:28492532|PMID:29271572|PMID:29620724|PMID:29901129|PMID:30362252|PMID:34244600|PMID:34906502|PMID:35982159|PMID:9536098 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621770 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:9068943|REF_RGD_ID:1624265 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1351428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1351428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545953 8844879 Hspg2 heparan sulfate proteoglycan 2 gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1351428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome PMID:25741868|PMID:28492532 8844986 Psmg4 proteasome assembly chaperone 4 gene DOID:630 genetic disease ISO RGD:1347146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844995 Crem cAMP responsive element modulator gene DOID:11713 diabetic angiopathy ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 8844995 Crem cAMP responsive element modulator gene DOID:224 transient cerebral ischemia ISO RGD:2402 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:12437578|REF_RGD_ID:632385 8844995 Crem cAMP responsive element modulator gene DOID:3042 allergic contact dermatitis ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8844995 Crem cAMP responsive element modulator gene DOID:5844 myocardial infarction ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 8844995 Crem cAMP responsive element modulator gene DOID:630 genetic disease ISO RGD:735941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8844995 Crem cAMP responsive element modulator gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8844995 Crem cAMP responsive element modulator gene DOID:9000040 Hypertrophy ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12791704 8844995 Crem cAMP responsive element modulator gene DOID:9001341 Chloracne ISO RGD:735941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8844995 Crem cAMP responsive element modulator gene DOID:9003936 Cardiomegaly ISO RGD:735941 D RGD:9068941 20200609 RGD PMID:15569686|REF_RGD_ID:1581291 8845035 Irgq immunity related GTPase Q gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1606733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8845035 Irgq immunity related GTPase Q gene DOID:10283 prostate cancer ISO RGD:1606733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8845035 Irgq immunity related GTPase Q gene DOID:5419 schizophrenia ISO RGD:1606733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8845035 Irgq immunity related GTPase Q gene DOID:630 genetic disease ISO RGD:1606733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845043 Dlx3 distal-less homeobox 3 gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1312567 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant PMID:28492532 8845043 Dlx3 distal-less homeobox 3 gene DOID:0110053 amelogenesis imperfecta type 4 ISO RGD:1312567 D RGD:7240710 20180130 OMIM 8845043 Dlx3 distal-less homeobox 3 gene DOID:0110053 amelogenesis imperfecta type 4 ISO RGD:1312567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV PMID:25741868|PMID:28492532 8845043 Dlx3 distal-less homeobox 3 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1312567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 8845043 Dlx3 distal-less homeobox 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1312567 D RGD:7240710 20180130 OMIM 8845043 Dlx3 distal-less homeobox 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1312567 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: TDO syndrome | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:17950683|PMID:18492670|PMID:20510228|PMID:21520071|PMID:25741868|PMID:26104267|PMID:27924851|PMID:28492532|PMID:35714441|PMID:9467018|PMID:9783705 8845043 Dlx3 distal-less homeobox 3 gene DOID:13223 uterine fibroid ISO RGD:1312567 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:25741868 8845043 Dlx3 distal-less homeobox 3 gene DOID:2187 amelogenesis imperfecta ISO RGD:1312567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital enamel hypoplasia PMID:25741868 8845043 Dlx3 distal-less homeobox 3 gene DOID:630 genetic disease ISO RGD:1312567 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26104267|PMID:28492532|PMID:35714441 8845050 Fn1 fibronectin 1 gene DOID:0050855 renal fibrosis ISO RGD:10594 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:22052058|REF_RGD_ID:9068421 8845050 Fn1 fibronectin 1 gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:33605604 8845050 Fn1 fibronectin 1 gene DOID:0080600 COVID-19 ISO RGD:736627 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8845050 Fn1 fibronectin 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11025758|REF_RGD_ID:7206846 8845050 Fn1 fibronectin 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736627 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:19616291|REF_RGD_ID:7206842 8845050 Fn1 fibronectin 1 gene DOID:0110034 X-linked Alport syndrome ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:25741868|PMID:28492532 8845050 Fn1 fibronectin 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:736627 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:12621118|REF_RGD_ID:1358624 8845050 Fn1 fibronectin 1 gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:33605604 8845050 Fn1 fibronectin 1 gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:736627 D RGD:7240710 20190315 OMIM 8845050 Fn1 fibronectin 1 gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FN1-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:15666313|PMID:1677003|PMID:25741868|PMID:28492532|PMID:29100092|PMID:32200603|PMID:33605604 8845050 Fn1 fibronectin 1 gene DOID:10763 hypertension ISO RGD:2624 D RGD:9068941 20200903 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) PMID:11682445|PMID:11907153|REF_RGD_ID:28912746|REF_RGD_ID:30296650 8845050 Fn1 fibronectin 1 gene DOID:10763 hypertension ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11682445|PMID:17324946 8845050 Fn1 fibronectin 1 gene DOID:11054 urinary bladder cancer ISO RGD:736627 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:20012564|REF_RGD_ID:7205680 8845050 Fn1 fibronectin 1 gene DOID:11372 megacolon ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8845050 Fn1 fibronectin 1 gene DOID:11713 diabetic angiopathy ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12716757|REF_RGD_ID:1601179 8845050 Fn1 fibronectin 1 gene DOID:11758 iron deficiency anemia ISO RGD:2624 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:18723004|REF_RGD_ID:2301196 8845050 Fn1 fibronectin 1 gene DOID:1184 nephrotic syndrome ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 8845050 Fn1 fibronectin 1 gene DOID:12897 submandibular gland disease ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:19097859|REF_RGD_ID:7205460 8845050 Fn1 fibronectin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423 8845050 Fn1 fibronectin 1 gene DOID:14679 VACTERL association ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:embryo PMID:14986037|REF_RGD_ID:7205466 8845050 Fn1 fibronectin 1 gene DOID:1591 renovascular hypertension ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:17324142|REF_RGD_ID:7205461 8845050 Fn1 fibronectin 1 gene DOID:1790 malignant mesothelioma ISO RGD:736627 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 8845050 Fn1 fibronectin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:10082755|REF_RGD_ID:7206847 8845050 Fn1 fibronectin 1 gene DOID:2921 glomerulonephritis disease_progression ISO RGD:736627 D RGD:9068941 20200609 RGD PMID:20484935|REF_RGD_ID:7206839 8845050 Fn1 fibronectin 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:10594 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 8845050 Fn1 fibronectin 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:736627 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15925904|REF_RGD_ID:7206844 8845050 Fn1 fibronectin 1 gene DOID:3021 acute kidney failure ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12884040|REF_RGD_ID:7205684 8845050 Fn1 fibronectin 1 gene DOID:3021 acute kidney failure ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11768240|REF_RGD_ID:729934 8845050 Fn1 fibronectin 1 gene DOID:305 carcinoma ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8845050 Fn1 fibronectin 1 gene DOID:3068 glioblastoma ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17099729 8845050 Fn1 fibronectin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26817844 8845050 Fn1 fibronectin 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:736627 D RGD:9068941 20200609 RGD PMID:20860816|REF_RGD_ID:7205637 8845050 Fn1 fibronectin 1 gene DOID:5199 ureteral obstruction ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12218318|REF_RGD_ID:7205473 8845050 Fn1 fibronectin 1 gene DOID:5199 ureteral obstruction ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 8845050 Fn1 fibronectin 1 gene DOID:57 aortic valve insufficiency ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 8845050 Fn1 fibronectin 1 gene DOID:5844 myocardial infarction ISO RGD:2624 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:19695229|REF_RGD_ID:2325720 8845050 Fn1 fibronectin 1 gene DOID:630 genetic disease ISO RGD:736627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532|PMID:29100092 8845050 Fn1 fibronectin 1 gene DOID:783 end stage renal disease ISO RGD:736627 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:6665521|REF_RGD_ID:7205701 8845050 Fn1 fibronectin 1 gene DOID:784 chronic kidney disease ISO RGD:736627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 8845050 Fn1 fibronectin 1 gene DOID:8398 osteoarthritis ISO RGD:736627 D RGD:9068941 20200609 RGD protein:increased expression:cartilage: PMID:8646429|REF_RGD_ID:10402156 8845050 Fn1 fibronectin 1 gene DOID:8778 Crohn's disease ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19751734 8845050 Fn1 fibronectin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736627 D RGD:9068941 20200609 RGD PMID:20347014|REF_RGD_ID:7205459 8845050 Fn1 fibronectin 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2624 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney cortex (rat) PMID:32416216|REF_RGD_ID:401793731 8845050 Fn1 fibronectin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8845050 Fn1 fibronectin 1 gene DOID:9000955 Acute Otitis Media IEP D RGD:11556224|PMID:10453785 20161028 RGD 8845050 Fn1 fibronectin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:736627 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 8845050 Fn1 fibronectin 1 gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12065530|REF_RGD_ID:7205474 8845050 Fn1 fibronectin 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2624 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:15980055|REF_RGD_ID:1625201 8845050 Fn1 fibronectin 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2624 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:19914391|REF_RGD_ID:4140452 8845050 Fn1 fibronectin 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:12651615|REF_RGD_ID:7205470 8845050 Fn1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10594 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:kidney PMID:16301823|REF_RGD_ID:7206843 8845050 Fn1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413998 8845050 Fn1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736627 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8845050 Fn1 fibronectin 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex: PMID:22736507|REF_RGD_ID:10402169 8845050 Fn1 fibronectin 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:2624 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart: PMID:23383330|REF_RGD_ID:10402158 8845050 Fn1 fibronectin 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8845050 Fn1 fibronectin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8845050 Fn1 fibronectin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 8845050 Fn1 fibronectin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181017 8845050 Fn1 fibronectin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8845050 Fn1 fibronectin 1 gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:736627 D RGD:7240710 20180130 OMIM 8845050 Fn1 fibronectin 1 gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:736627 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 PMID:12042895|PMID:1544672|PMID:17576681|PMID:18268355|PMID:25741868|PMID:28492532|PMID:29100092|PMID:30599297|PMID:32200603|PMID:36774238|PMID:7747733|PMID:9536098 8845050 Fn1 fibronectin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2624 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:22937115|REF_RGD_ID:7206838 8845050 Fn1 fibronectin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:22228707|REF_RGD_ID:7296926 8845050 Fn1 fibronectin 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:11352844|REF_RGD_ID:7205629 8845050 Fn1 fibronectin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 8845050 Fn1 fibronectin 1 gene DOID:9008691 Liver Injury ISO RGD:2624 D RGD:9068941 20200609 RGD PMID:7806580|REF_RGD_ID:7205469 8845050 Fn1 fibronectin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 8845050 Fn1 fibronectin 1 gene DOID:9351 diabetes mellitus ISO RGD:736627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20551625 8845050 Fn1 fibronectin 1 gene DOID:9351 diabetes mellitus ISO RGD:736627 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11213886|REF_RGD_ID:7206845 8845050 Fn1 fibronectin 1 gene DOID:936 brain disease ISO RGD:736627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 8845126 Rac3 Rac family small GTPase 3 gene DOID:1059 intellectual disability ISO RGD:1344542 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30293988 8845126 Rac3 Rac family small GTPase 3 gene DOID:630 genetic disease ISO RGD:1344542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845126 Rac3 Rac family small GTPase 3 gene DOID:9002267 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies ISO RGD:1344542 D RGD:7240710 20191016 OMIM 8845126 Rac3 Rac family small GTPase 3 gene DOID:9002267 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies ISO RGD:1344542 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies PMID:25741868|PMID:29276006|PMID:30293988|PMID:35851598|PMID:38214746 8845126 Rac3 Rac family small GTPase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1344542 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35331739 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:0110214 cleft soft palate ISO RGD:1606836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft soft palate PMID:22689593|PMID:25238597|PMID:25741868|PMID:28492532|PMID:29177700|PMID:29178448 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:12347 osteogenesis imperfecta ISO RGD:1606836 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22689593|PMID:25086671|PMID:25238597|PMID:25741868|PMID:28492532|PMID:29178448|PMID:32655337 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:1459 hypothyroidism ISO RGD:3353 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple organs PMID:15817667|REF_RGD_ID:2314536 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1606836 D RGD:9068941 20220407 RGD PMID:29072684|REF_RGD_ID:151665822 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:5082 liver cirrhosis ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:630 genetic disease ISO RGD:1606836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:8398 osteoarthritis ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1606836 D RGD:9068941 20220407 RGD associated with lung non-small cell carcinoma PMID:29072684|REF_RGD_ID:151665822 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9002665 Bruck Syndrome 2 ISO RGD:1606836 D RGD:7240710 20180130 OMIM 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9002665 Bruck Syndrome 2 ISO RGD:1606836 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Bruck syndrome 2 | ClinVar Annotator: match by term: PLOD2-related condition PMID:12881513|PMID:15523624|PMID:22689593|PMID:25086671|PMID:25238597|PMID:25741868|PMID:28116328|PMID:28492532|PMID:29177700|PMID:29178448|PMID:31472299|PMID:31785789|PMID:32655337|PMID:33664768|PMID:35278031|PMID:9927692 8845135 Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 gene DOID:9004389 Bone Neoplasms ISO RGD:1606836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15865105 8845168 Tcf12 transcription factor 12 gene DOID:2340 craniosynostosis ISO RGD:731955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354436 8845168 Tcf12 transcription factor 12 gene DOID:2717 Bloom syndrome ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8845168 Tcf12 transcription factor 12 gene DOID:3614 Kallmann syndrome ISO RGD:731955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:25741868|PMID:32629054 8845168 Tcf12 transcription factor 12 gene DOID:630 genetic disease ISO RGD:731955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31754721 8845168 Tcf12 transcription factor 12 gene DOID:9002666 Hypogonadotropic Hypogonadism 26 with or without Anosmia ISO RGD:731955 D RGD:7240710 20220202 OMIM 8845168 Tcf12 transcription factor 12 gene DOID:9002666 Hypogonadotropic Hypogonadism 26 with or without Anosmia ISO RGD:731955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 26 with or without anosmia PMID:23354436|PMID:25741868|PMID:28492532|PMID:32620954 8845168 Tcf12 transcription factor 12 gene DOID:9002862 Craniosynostosis 3 ISO RGD:731955 D RGD:7240710 20180130 OMIM 8845168 Tcf12 transcription factor 12 gene DOID:9002862 Craniosynostosis 3 ISO RGD:731955 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Coronal craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 3 PMID:23354436|PMID:24736737|PMID:25271085|PMID:25741868|PMID:28492532|PMID:28808027|PMID:29215649|PMID:30038786|PMID:32620954|PMID:33547006|PMID:34906502 8845168 Tcf12 transcription factor 12 gene DOID:9008086 Developmental Disabilities ISO RGD:731955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:36937954 8845168 Tcf12 transcription factor 12 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731955 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:23354436|PMID:25741868|PMID:28492532|PMID:30038786|PMID:31837199|PMID:32620954 8845168 Tcf12 transcription factor 12 gene DOID:9008582 Developmental Disease ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8845168 Tcf12 transcription factor 12 gene DOID:9256 colorectal cancer ISO RGD:731955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8845212 Amdhd2 amidohydrolase domain containing 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8845212 Amdhd2 amidohydrolase domain containing 2 gene DOID:1826 epilepsy ISO RGD:1603049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8845212 Amdhd2 amidohydrolase domain containing 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8845212 Amdhd2 amidohydrolase domain containing 2 gene DOID:630 genetic disease ISO RGD:1603049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845227 Trip11 thyroid hormone receptor interactor 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1318006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8845227 Trip11 thyroid hormone receptor interactor 11 gene DOID:0080043 achondrogenesis ISO RGD:1318006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achondrogenesis 8845227 Trip11 thyroid hormone receptor interactor 11 gene DOID:0080054 achondrogenesis type IA ISO RGD:1318006 D RGD:7240710 20180130 OMIM 8845227 Trip11 thyroid hormone receptor interactor 11 gene DOID:0080054 achondrogenesis type IA ISO RGD:1318006 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:16199547|PMID:17576681|PMID:19763152|PMID:200899|PMID:2008997|PMID:20089971|PMID:20307669|PMID:22406018|PMID:23956106|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29620724|PMID:29872333|PMID:30609409|PMID:30728324|PMID:31903676|PMID:33578785|PMID:34057271|PMID:9536098 8845227 Trip11 thyroid hormone receptor interactor 11 gene DOID:1591 renovascular hypertension ISO RGD:1318006 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Goldblatt syndrome PMID:20089971|PMID:23956106|PMID:25741868|PMID:28492532|PMID:29872333|PMID:30728324 8845227 Trip11 thyroid hormone receptor interactor 11 gene DOID:630 genetic disease ISO RGD:1318006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8845227 Trip11 thyroid hormone receptor interactor 11 gene DOID:65 connective tissue disease ISO RGD:1318006 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:200899|PMID:2008997|PMID:20089971|PMID:25741868|PMID:28492532 8845227 Trip11 thyroid hormone receptor interactor 11 gene DOID:9003459 Odontochondrodysplasia 1 ISO RGD:1318006 D RGD:7240710 20210414 OMIM 8845227 Trip11 thyroid hormone receptor interactor 11 gene DOID:9003459 Odontochondrodysplasia 1 ISO RGD:1318006 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Goldblatt syndrome PMID:20089971|PMID:23956106|PMID:25741868|PMID:28492532|PMID:29872333|PMID:30728324 8845315 Ripor3 RIPOR family member 3 gene DOID:10283 prostate cancer ISO RGD:1313101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8845315 Ripor3 RIPOR family member 3 gene DOID:630 genetic disease ISO RGD:1313101 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383 8845347 Add1 adducin 1 gene DOID:10591 pre-eclampsia ISO RGD:733925 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:19731222|REF_RGD_ID:5147993 8845347 Add1 adducin 1 gene DOID:10763 hypertension ISO RGD:2041 D RGD:9068941 20200609 RGD PMID:15474463|PMID:8543181|REF_RGD_ID:1302895|REF_RGD_ID:631736 8845347 Add1 adducin 1 gene DOID:10763 hypertension ISO RGD:733925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15773232|PMID:19199261 8845347 Add1 adducin 1 gene DOID:10763 hypertension ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.G460W (human) PMID:9149697|REF_RGD_ID:1624953 8845347 Add1 adducin 1 gene DOID:10825 essential hypertension ISO RGD:733925 D RGD:7240710 20180130 OMIM 8845347 Add1 adducin 1 gene DOID:10825 essential hypertension ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, salt-sensitive essential, susceptibility to PMID:10024330|PMID:10523341|PMID:11882573|PMID:12623934|PMID:14553962|PMID:18591455|PMID:19057513|PMID:22992668|PMID:23863317|PMID:9149697|PMID:9607177 8845347 Add1 adducin 1 gene DOID:10908 hydrocephalus ISO RGD:10086 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8845347 Add1 adducin 1 gene DOID:11044 gastroschisis ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:SNP: :p.G460W (human) PMID:17051589|REF_RGD_ID:5148000 8845347 Add1 adducin 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8845347 Add1 adducin 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Gly460Trp (human) PMID:11775124|REF_RGD_ID:1559299 8845347 Add1 adducin 1 gene DOID:1856 cherubism ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8845347 Add1 adducin 1 gene DOID:1936 atherosclerosis ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G460W (human) PMID:17082469|REF_RGD_ID:5147995 8845347 Add1 adducin 1 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:rs4961(human) PMID:19838659|REF_RGD_ID:7174725 8845347 Add1 adducin 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:2041 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 8845347 Add1 adducin 1 gene DOID:5844 myocardial infarction ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G460W (human) PMID:17082469|REF_RGD_ID:5147995 8845347 Add1 adducin 1 gene DOID:5844 myocardial infarction no_association ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G460W (human) PMID:16420563|REF_RGD_ID:5148001 8845347 Add1 adducin 1 gene DOID:630 genetic disease ISO RGD:733925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845347 Add1 adducin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 8845347 Add1 adducin 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:SNP: :p.G460W (human) PMID:16100725|REF_RGD_ID:5147996 8845347 Add1 adducin 1 gene DOID:9008366 Meningococcal Infections ISO RGD:733925 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G460W (human) PMID:18679149|REF_RGD_ID:5147999 8845347 Add1 adducin 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:733925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8845380 Fastkd1 FAST kinase domains 1 gene DOID:630 genetic disease ISO RGD:1606223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845380 Fastkd1 FAST kinase domains 1 gene DOID:9003605 Glaucoma 1, Open Angle, B ISO RGD:1606223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, B 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:cds:p.V64I(human) PMID:21883707|REF_RGD_ID:8661694 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:0060189 ileitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:22848538|REF_RGD_ID:8661712 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism: :190A>G(human) PMID:26591766|REF_RGD_ID:14995492 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1552061 D RGD:9068941 20220825 MouseDO 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1603716 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1603716 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:33307546 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:0080745 polymyositis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:limb muscle: PMID:15772970|REF_RGD_ID:8661727 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:10140 dry eye syndrome ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:19597109|REF_RGD_ID:8661637 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:10223 dermatomyositis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:limb muscle: PMID:15772970|REF_RGD_ID:8661727 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:10303 sialadenitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:17284325|REF_RGD_ID:8661704 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:106 pleural tuberculosis ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:19159432|REF_RGD_ID:4145106 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:10871 age related macular degeneration ISO RGD:1552061 D RGD:9068941 20220825 MouseDO 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:monocyte: PMID:22789920|REF_RGD_ID:8661669 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:11335 sarcoidosis ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:18513341|REF_RGD_ID:4144898 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:11382 corneal neovascularization ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:12827053|PMID:19421039|REF_RGD_ID:8657360|REF_RGD_ID:9491750 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:11446 sciatic neuropathy ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:24907405|REF_RGD_ID:8661781 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:1552061 D RGD:9068941 20200609 RGD protein:increased expression:liver,serum: PMID:19277603|REF_RGD_ID:8657358 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:11716 prediabetes syndrome ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-960T>A (rs3918359) (human) PMID:18096169|REF_RGD_ID:2313557 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:1205 allergic disease ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:12574 posterior uveitis ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V64I(human) PMID:17417600|REF_RGD_ID:8551817 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:12732 intermediate uveitis susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V64I(human) PMID:17417600|REF_RGD_ID:8551817 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:10946288|REF_RGD_ID:8661731 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:cds:p.V64I(human) PMID:17672867|REF_RGD_ID:8551811 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:1474 aggressive periodontitis susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:cds:p.V64I(human) PMID:21264360|REF_RGD_ID:8661707 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:1555 urticaria susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype::190G>A(human) PMID:23727176|REF_RGD_ID:8551831 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:1564 fungal infectious disease ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:22287435|REF_RGD_ID:7483612 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:1577 limited scleroderma ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:12925209|REF_RGD_ID:8661733 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:1824 status epilepticus ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19490431|PMID:20034406 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:2030 anxiety disorder ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:24907405|REF_RGD_ID:8661781 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA:increased expression:trachea: PMID:11518728|REF_RGD_ID:4145124 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:2841 asthma ISO RGD:1552061 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:19917684|REF_RGD_ID:8549811 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:2841 asthma ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:haplotype:cds:p.V64I(human) PMID:23454776|REF_RGD_ID:8551842 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:2841 asthma susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.V64I (human) PMID:17298432|REF_RGD_ID:4145110 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:2957 pulmonary tuberculosis disease_progression ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:11438742|REF_RGD_ID:734715 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:10899907|REF_RGD_ID:8661227 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:3082 interstitial lung disease severity ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression: T cell PMID:16095529|REF_RGD_ID:4145064 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:3213 demyelinating disease ISO RGD:620876 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dorsal root ganglion: PMID:18076762|REF_RGD_ID:4890034 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:3310 atopic dermatitis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:skin,monocyte: PMID:15370700|REF_RGD_ID:8661734 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:16857270|REF_RGD_ID:8657363 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:decreased expression:monocyte: PMID:16857270|REF_RGD_ID:8657363 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:3393 coronary artery disease ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:12426226|REF_RGD_ID:1581178 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:3429 inclusion body myositis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:limb muscle: PMID:15772970|REF_RGD_ID:8661727 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:3612 retinitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:24142887|REF_RGD_ID:8661224 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:15743780|REF_RGD_ID:4145065 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14609568 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:409 liver disease ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12845637 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:418 systemic scleroderma ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:23142052|REF_RGD_ID:9479741 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:4448 macular degeneration ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:16857270|REF_RGD_ID:8657363 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:4448 macular degeneration no_association ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:18172114|REF_RGD_ID:7794843 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:4483 rhinitis susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD Rhinitis, Allergic, Seasonal; DNA:SNP:cds:p.V64I (human) PMID:17135764|REF_RGD_ID:4145111 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:4617 periapical granuloma ISO RGD:1603716 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva: PMID:16101967|REF_RGD_ID:8661719 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1603716 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:25741868|PMID:9252328|PMID:9662369 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1603716 D RGD:7240710 20230125 OMIM 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:552 pneumonia ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:14615370|PMID:17284325|REF_RGD_ID:4145068|REF_RGD_ID:8661704 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:552 pneumonia ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:5844 myocardial infarction ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:12719858|PMID:12853162|REF_RGD_ID:1581174|REF_RGD_ID:1581177 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:6000 congestive heart failure ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:12719858|REF_RGD_ID:1581177 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:630 genetic disease ISO RGD:1603716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:823 periapical periodontitis ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:24631631|REF_RGD_ID:8661717 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:8466 retinal degeneration ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:23022404|REF_RGD_ID:8657362 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:1552061 D RGD:9068941 20200609 RGD acute lung injury PMID:20152938|REF_RGD_ID:4144896 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:1552061 D RGD:9068941 20200609 RGD acute lung injury associated with anoxia PMID:17222215|REF_RGD_ID:4145002 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:850 lung disease ISO RGD:1603716 D RGD:9068941 20200609 RGD lung injury associated with sepsis; protein:increased expression:macrophage alveolar PMID:19733456|REF_RGD_ID:4144897 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:865 vasculitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:23074996|REF_RGD_ID:8661749 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:8683 myeloid sarcoma ISO RGD:1603716 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;protein:increased expression:blood, leukocyte PMID:20582977|REF_RGD_ID:8661751 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:874 bacterial pneumonia ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:20042590|REF_RGD_ID:4891443 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:8893 psoriasis ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:skin,monocyte: PMID:15370700|REF_RGD_ID:8661734 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620876 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18338959|REF_RGD_ID:4144888 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000226 Periodontal Cyst ISO RGD:1603716 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva: PMID:16101967|REF_RGD_ID:8661719 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000585 Intervertebral Disc Disease ISO RGD:620876 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron,macrophage: PMID:24462503|REF_RGD_ID:8661788 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000641 Pain ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Osteoarthritis, Knee; PMID:23185004|REF_RGD_ID:8661785 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000641 Pain ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:18419759|REF_RGD_ID:2307043 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:10438957|REF_RGD_ID:4145126 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9000927 Alveolar Bone Loss ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Periodontitis; PMID:21241302|REF_RGD_ID:8661687 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9001004 Chronic Periodontitis ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:20059422|REF_RGD_ID:8661721 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:22205983|REF_RGD_ID:8657364 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9001427 Geographic Atrophy ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:24142887|REF_RGD_ID:8661224 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9001472 Nasal Polyps ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:22287435|REF_RGD_ID:7483612 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9001954 Thoracic Injuries ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:20543668|REF_RGD_ID:4144894 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:27229110|REF_RGD_ID:14995460 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:17631861|REF_RGD_ID:2313558 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1603716 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.V64I (human) PMID:11756347|REF_RGD_ID:2313563 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:24907405|REF_RGD_ID:8661781 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:18419759|REF_RGD_ID:2307043 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD associated with Bone Neoplasms;protein:increased expression:spinal cord: PMID:23511129|REF_RGD_ID:8661772 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD associated with Demyelinating Diseases; PMID:18076762|REF_RGD_ID:4890034 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD associated with Intervertebral disc disease; PMID:24462503|REF_RGD_ID:8661788 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:620876 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn of spinal cord: PMID:22721162|REF_RGD_ID:8548831 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dorsal root ganglion: PMID:23185004|REF_RGD_ID:8661785 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:620876 D RGD:9068941 20200609 RGD PMID:16320322|REF_RGD_ID:4144893 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002699 Periapical Diseases ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:20113782|REF_RGD_ID:8661683 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620876 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:9655467|REF_RGD_ID:632391 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1603716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002834 Herpesviridae Infections ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with pulmonary fibrosis PMID:18187693|REF_RGD_ID:4144903 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:17075702|REF_RGD_ID:8657356 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1603716 D RGD:9068941 20200609 RGD mRNA:increased expression:Nasal Mucosa PMID:17982926|REF_RGD_ID:4145109 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620876 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:18095591|REF_RGD_ID:4144890 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:22377584|REF_RGD_ID:8661752 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9003969 Peri-Implantitis ISO RGD:1603716 D RGD:9068941 20200609 RGD PMID:20059422|REF_RGD_ID:8661721 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9004283 Transplant Rejection ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:14662900|REF_RGD_ID:8657367 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:19741601|REF_RGD_ID:8661685 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9005396 Intimal Hyperplasia ISO RGD:1552061 D RGD:9068941 20200609 RGD associated with Vascular System Injuries; PMID:20836883|REF_RGD_ID:8661636 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:24736166|REF_RGD_ID:8657357 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9005647 Experimental Autoimmune Uveitis no_association ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:19357362|REF_RGD_ID:8657383 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA:increased expression:eye: PMID:12605265|REF_RGD_ID:8661671 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:25557254|REF_RGD_ID:14995489 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9006998 Cystic Disease of Lung susceptibility ISO RGD:1603716 D RGD:7240710 20240320 OMIM 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:pV64I(human) PMID:21570337|REF_RGD_ID:8661698 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:decreased expression:monocyte: PMID:15786508|REF_RGD_ID:4892017 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1603716 D RGD:9068941 20200609 RGD associated with Psoriasis;DNA:SNP:p.V64I(rs1799864)(human) PMID:20153665|REF_RGD_ID:8661745 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9065 leishmaniasis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:10899907|REF_RGD_ID:8661227 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9111 cutaneous leishmaniasis ISO RGD:1552061 D RGD:9068941 20200609 RGD mRNA:increased expression:foot, lymph node PMID:12874303|REF_RGD_ID:5688168 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9146 visceral leishmaniasis ISO RGD:1552061 D RGD:9068941 20200609 RGD PMID:24818662|REF_RGD_ID:8661728 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603716 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:16631114|REF_RGD_ID:2313561 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.V64I (human) PMID:10400139|REF_RGD_ID:2313564 8845405 Ccr2 C-C motif chemokine receptor 2 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:1603716 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:12770795|REF_RGD_ID:2313562 8845424 Cdyl2 chromodomain Y like 2 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1319946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 8845424 Cdyl2 chromodomain Y like 2 gene DOID:630 genetic disease ISO RGD:1319946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845435 Gmds GDP-mannose 4,6-dehydratase gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1322234 D RGD:9068941 20200609 RGD DNA:SNPs: :rs11969985,rs2761233(human) PMID:25173105|REF_RGD_ID:13673886 8845435 Gmds GDP-mannose 4,6-dehydratase gene DOID:12271 aniridia ISO RGD:1322234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 8845435 Gmds GDP-mannose 4,6-dehydratase gene DOID:630 genetic disease ISO RGD:1322234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845450 Tipin TIMELESS interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8845450 Tipin TIMELESS interacting protein gene DOID:2717 Bloom syndrome ISO RGD:1606275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8845450 Tipin TIMELESS interacting protein gene DOID:630 genetic disease ISO RGD:1606275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845450 Tipin TIMELESS interacting protein gene DOID:9256 colorectal cancer ISO RGD:1606275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8845463 Nupr2 nuclear protein 2, transcriptional regulator gene DOID:12849 autistic disorder ISO RGD:6770124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8845463 Nupr2 nuclear protein 2, transcriptional regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:6770124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8845463 Nupr2 nuclear protein 2, transcriptional regulator gene DOID:630 genetic disease ISO RGD:6770124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845470 Tspan10 tetraspanin 10 gene DOID:630 genetic disease ISO RGD:1602455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845480 Tmem71 transmembrane protein 71 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1606965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 8845480 Tmem71 transmembrane protein 71 gene DOID:14264 benign neonatal seizures ISO RGD:1606965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 8845480 Tmem71 transmembrane protein 71 gene DOID:6000 congestive heart failure ISO RGD:1606965 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8845480 Tmem71 transmembrane protein 71 gene DOID:630 genetic disease ISO RGD:1606965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845489 Moxd1 monooxygenase DBH like 1 gene DOID:630 genetic disease ISO RGD:1320700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845505 Senp8 SUMO peptidase family member, NEDD8 specific gene DOID:2717 Bloom syndrome ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8845505 Senp8 SUMO peptidase family member, NEDD8 specific gene DOID:3320 Tay-Sachs disease ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8845505 Senp8 SUMO peptidase family member, NEDD8 specific gene DOID:630 genetic disease ISO RGD:1320576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845505 Senp8 SUMO peptidase family member, NEDD8 specific gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8845505 Senp8 SUMO peptidase family member, NEDD8 specific gene DOID:9256 colorectal cancer ISO RGD:1320576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8845527 Samd9l sterile alpha motif domain containing 9 like gene DOID:0050908 myelodysplastic syndrome ISO RGD:1557974 D RGD:9068941 20220825 MouseDO OMIM:614286 8845527 Samd9l sterile alpha motif domain containing 9 like gene DOID:1059 intellectual disability ISO RGD:1353410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8845527 Samd9l sterile alpha motif domain containing 9 like gene DOID:10907 microcephaly ISO RGD:1353410 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8845527 Samd9l sterile alpha motif domain containing 9 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8845527 Samd9l sterile alpha motif domain containing 9 like gene DOID:630 genetic disease ISO RGD:1353410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532|PMID:29146900|PMID:35310830 8845527 Samd9l sterile alpha motif domain containing 9 like gene DOID:630 genetic disease ISO RGD:1353410 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830 8845527 Samd9l sterile alpha motif domain containing 9 like gene DOID:9000617 Myelocerebellar Disorder ISO RGD:1353410 D RGD:7240710 20190315 OMIM 8845527 Samd9l sterile alpha motif domain containing 9 like gene DOID:9000617 Myelocerebellar Disorder ISO RGD:1353410 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ataxia-pancytopenia syndrome | ClinVar Annotator: match by term: Myelocerebellar disorder PMID:2569483|PMID:25741868|PMID:27259050|PMID:28202457|PMID:283689|PMID:28492532|PMID:28570036|PMID:29146883|PMID:29217778|PMID:30046003|PMID:30322869|PMID:31692161|PMID:33884299|PMID:34621053|PMID:35295078|PMID:35310830 8845527 Samd9l sterile alpha motif domain containing 9 like gene DOID:9000646 Spinocerebellar Ataxia 49 ISO RGD:1353410 D RGD:7240710 20220427 OMIM 8845527 Samd9l sterile alpha motif domain containing 9 like gene DOID:9000646 Spinocerebellar Ataxia 49 ISO RGD:1353410 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 49 PMID:25741868|PMID:28492532|PMID:29146900|PMID:35310830 8845527 Samd9l sterile alpha motif domain containing 9 like gene DOID:9007085 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 ISO RGD:1353410 D RGD:7240710 20201223 OMIM 8845527 Samd9l sterile alpha motif domain containing 9 like gene DOID:9007085 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 ISO RGD:1353410 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 | ClinVar Annotator: match by term: Monosomy 7 of bone marrow PMID:2569483|PMID:25741868|PMID:27259050|PMID:28202457|PMID:28492532|PMID:28570036|PMID:29146883|PMID:30046003|PMID:33884299|PMID:34621053 8845544 Krt4 keratin 4 gene DOID:0050448 white sponge nevus ISO RGD:1342912 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism 8845544 Krt4 keratin 4 gene DOID:0050448 white sponge nevus ISO RGD:1553546 D RGD:9068941 20230202 MouseDO OMIM:193900 | OMIM:615785 8845544 Krt4 keratin 4 gene DOID:0081287 white sponge nevus 1 ISO RGD:1342912 D RGD:7240710 20230201 OMIM 8845544 Krt4 keratin 4 gene DOID:0081287 white sponge nevus 1 ISO RGD:1342912 D RGD:8554872 20230131 ClinVar ClinVar Annotator: match by term: White sponge nevus 1 PMID:10652003|PMID:12828738|PMID:28492532 8845544 Krt4 keratin 4 gene DOID:2773 contact dermatitis ISO RGD:1342912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8845544 Krt4 keratin 4 gene DOID:630 genetic disease ISO RGD:1342912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8845544 Krt4 keratin 4 gene DOID:9007168 Genetic Skin Diseases susceptibility ISO RGD:1342912 D RGD:9068941 20200609 RGD DNA:deletion: ; white sponge nevus, OMIM:193900 PMID:7493030|REF_RGD_ID:1600193 8845562 Trim6 tripartite motif containing 6 gene DOID:630 genetic disease ISO RGD:1316640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845578 Glipr1l2 GLIPR1 like 2 gene DOID:630 genetic disease ISO RGD:1606963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845591 Rps19 ribosomal protein S19 gene DOID:0081137 agammaglobulinemia 3 ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive PMID:28492532 8845591 Rps19 ribosomal protein S19 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:68661 D RGD:7240710 20180606 OMIM 8845591 Rps19 ribosomal protein S19 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:68661 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:10590074|PMID:10598818|PMID:10753603|PMID:11112378|PMID:12586610|PMID:12750732|PMID:15384984|PMID:16159874|PMID:17053056|PMID:17082006|PMID:17517689|PMID:17726054|PMID:18412286|PMID:18768533|PMID:20378560|PMID:20395159|PMID:20606162|PMID:20960466|PMID:23812780|PMID:24033266|PMID:24675553|PMID:24952648|PMID:25741868|PMID:27329125|PMID:28102861|PMID:28376382|PMID:28492532|PMID:31574871|PMID:33718801|PMID:9988267 8845591 Rps19 ribosomal protein S19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:68661 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:10590074|PMID:10598818|PMID:10753603|PMID:11112378|PMID:12586610|PMID:12750732|PMID:15059149|PMID:15075082|PMID:15384984|PMID:15523650|PMID:16159874|PMID:16199547|PMID:17053056|PMID:17082006|PMID:17376718|PMID:17517689|PMID:17576681|PMID:17726054|PMID:18217898|PMID:18412286|PMID:18768533|PMID:19689926|PMID:20378560|PMID:20395159|PMID:20603584|PMID:20606162|PMID:20960466|PMID:22045982|PMID:22262766|PMID:22381658|PMID:22783360|PMID:23349008|PMID:24033266|PMID:24675553|PMID:24952648|PMID:25042156|PMID:25132370|PMID:25381059|PMID:25703294|PMID:25741868|PMID:25946618|PMID:26136524|PMID:26604301|PMID:27329125|PMID:27882484|PMID:28102861|PMID:28376382|PMID:28492532|PMID:29114930|PMID:29766597|PMID:30503522|PMID:31574871|PMID:33718801|PMID:35923690|PMID:36321656|PMID:3769971|PMID:9536098|PMID:9988267 8845591 Rps19 ribosomal protein S19 gene DOID:1342 congenital hypoplastic anemia ISO RGD:68661 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:10753603|PMID:12586610|PMID:12750732|PMID:15384984|PMID:16159874|PMID:17053056|PMID:17082006|PMID:17517689|PMID:17726054|PMID:18412286|PMID:20378560|PMID:20395159|PMID:20606162|PMID:24952648|PMID:25741868|PMID:28102861|PMID:28492532|PMID:9988267 8845591 Rps19 ribosomal protein S19 gene DOID:2340 craniosynostosis ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8845591 Rps19 ribosomal protein S19 gene DOID:5419 schizophrenia ISO RGD:68661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8845591 Rps19 ribosomal protein S19 gene DOID:687 hepatoblastoma ISO RGD:68661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12586610|PMID:25741868|PMID:28492532 8845591 Rps19 ribosomal protein S19 gene DOID:9000217 Stomach Neoplasms ISO RGD:68661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8845591 Rps19 ribosomal protein S19 gene DOID:9000918 Disease Progression ISO RGD:68661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8845591 Rps19 ribosomal protein S19 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8845591 Rps19 ribosomal protein S19 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8845591 Rps19 ribosomal protein S19 gene DOID:9269 maple syrup urine disease ISO RGD:68661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8845608 Txndc16 thioredoxin domain containing 16 gene DOID:630 genetic disease ISO RGD:1315553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845634 Tmc8 transmembrane channel like 8 gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1353841 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis PMID:10084299|PMID:12426567|PMID:16045695|PMID:16199547|PMID:17368633|PMID:17576681|PMID:22158547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 8845634 Tmc8 transmembrane channel like 8 gene DOID:630 genetic disease ISO RGD:1353841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8845634 Tmc8 transmembrane channel like 8 gene DOID:9004020 Epidermodysplasia Verruciformis 1 ISO RGD:1353841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 PMID:12426567|PMID:17576681|PMID:22158547|PMID:25741868|PMID:28492532|PMID:9536098 8845634 Tmc8 transmembrane channel like 8 gene DOID:9006415 Epidermodysplasia Verruciformis 2 ISO RGD:1353841 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 PMID:10084299|PMID:12426567|PMID:17576681|PMID:22158547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28646613|PMID:9536098 8845634 Tmc8 transmembrane channel like 8 gene DOID:9006415 Epidermodysplasia Verruciformis 2 susceptibility ISO RGD:1353841 D RGD:7240710 20240320 OMIM 8845654 Chst4 carbohydrate sulfotransferase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1321907 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8845654 Chst4 carbohydrate sulfotransferase 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8845654 Chst4 carbohydrate sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1321907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845675 Caln1 calneuron 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8845675 Caln1 calneuron 1 gene DOID:630 genetic disease ISO RGD:1314120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845675 Caln1 calneuron 1 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1314120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 8845698 Plekhn1 pleckstrin homology domain containing N1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8845698 Plekhn1 pleckstrin homology domain containing N1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604774 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8845698 Plekhn1 pleckstrin homology domain containing N1 gene DOID:0080600 COVID-19 ISO RGD:1604774 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8845698 Plekhn1 pleckstrin homology domain containing N1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8845698 Plekhn1 pleckstrin homology domain containing N1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8845698 Plekhn1 pleckstrin homology domain containing N1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8845698 Plekhn1 pleckstrin homology domain containing N1 gene DOID:630 genetic disease ISO RGD:1604774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845698 Plekhn1 pleckstrin homology domain containing N1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8845698 Plekhn1 pleckstrin homology domain containing N1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8845720 Ift88 intraflagellar transport 88 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 8845720 Ift88 intraflagellar transport 88 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 8845720 Ift88 intraflagellar transport 88 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9362446 8845720 Ift88 intraflagellar transport 88 gene DOID:0110253 cataract 14 multiple types ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 8845720 Ift88 intraflagellar transport 88 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1320207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 8845720 Ift88 intraflagellar transport 88 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 8845720 Ift88 intraflagellar transport 88 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 8845720 Ift88 intraflagellar transport 88 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8191288|PMID:8608416 8845720 Ift88 intraflagellar transport 88 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1551338 D RGD:9068941 20220825 MouseDO OMIM:263200 8845720 Ift88 intraflagellar transport 88 gene DOID:10325 silicosis ISO RGD:1309717 D RGD:9068941 20230105 RGD protein:decreased expression:lung PMID:32042332|REF_RGD_ID:155791682 8845720 Ift88 intraflagellar transport 88 gene DOID:1148 polydactyly ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12701101 8845720 Ift88 intraflagellar transport 88 gene DOID:12858 Huntington's disease ISO RGD:1551338 D RGD:9068941 20200609 RGD protein:altered localization:cilia PMID:25989602|REF_RGD_ID:13432581 8845720 Ift88 intraflagellar transport 88 gene DOID:14693 Clouston syndrome ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia PMID:28492532 8845720 Ift88 intraflagellar transport 88 gene DOID:2121 ectodermal dysplasia ISO RGD:1320207 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 8845720 Ift88 intraflagellar transport 88 gene DOID:4297 scimitar syndrome ISO RGD:1551338 D RGD:9068941 20240125 MouseDO OMIM:106700 8845720 Ift88 intraflagellar transport 88 gene DOID:61 mitral valve disease ISO RGD:1551338 D RGD:9068941 20220825 MouseDO 8845720 Ift88 intraflagellar transport 88 gene DOID:630 genetic disease ISO RGD:1320207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8845720 Ift88 intraflagellar transport 88 gene DOID:9007188 Liver Neoplasms ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9362446 8845720 Ift88 intraflagellar transport 88 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8845762 Zscan2 zinc finger and SCAN domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1606268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8845762 Zscan2 zinc finger and SCAN domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1606268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8845762 Zscan2 zinc finger and SCAN domain containing 2 gene DOID:630 genetic disease ISO RGD:1606268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845762 Zscan2 zinc finger and SCAN domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1606268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8845795 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8845795 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321029 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8845795 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8845795 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8845795 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:0081097 Rafiq syndrome ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8845795 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1321029 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8845795 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:1826 epilepsy ISO RGD:1321029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8845795 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:630 genetic disease ISO RGD:1321029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845795 Mrpl41 mitochondrial ribosomal protein L41 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8845802 Tmem247 transmembrane protein 247 gene DOID:3883 Lynch syndrome ISO RGD:6482527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8845802 Tmem247 transmembrane protein 247 gene DOID:630 genetic disease ISO RGD:6482527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845808 Abhd12b abhydrolase domain containing 12B gene DOID:630 genetic disease ISO RGD:1349841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845836 CD79B CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:9068941 20220311 RGD DNA:mutation:multiple (human) PMID:10753858|REF_RGD_ID:151665152 8845836 Cd79b CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730908 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:11160144|PMID:31402495 8845836 Cd79b CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma severity ISO RGD:730908 D RGD:9068941 20220317 RGD DNA:missense mutation:multiple, exon 5 (human) PMID:31609782|REF_RGD_ID:151665203 8845836 Cd79b CD79b molecule gene DOID:0050745 diffuse large B-cell lymphoma treatment ISO RGD:730908 D RGD:9068941 20220311 RGD PMID:25708834|REF_RGD_ID:151665133 8845836 Cd79b CD79b molecule gene DOID:0050746 mantle cell lymphoma ISO RGD:730908 D RGD:9068941 20200609 RGD protein:decreased expression:blood, B cell (human) PMID:10329919|REF_RGD_ID:11531139 8845836 Cd79b CD79b molecule gene DOID:0050746 mantle cell lymphoma treatment ISO RGD:730908 D RGD:9068941 20220317 RGD human cells in mouse model PMID:17374736|REF_RGD_ID:151665154 8845836 Cd79b CD79b molecule gene DOID:0050750 splenic marginal zone lymphoma ISO RGD:730908 D RGD:9068941 20200609 RGD protein:decreased expression:blood, B cell (human) PMID:10329919|REF_RGD_ID:11531139 8845836 Cd79b CD79b molecule gene DOID:0050873 follicular lymphoma treatment ISO RGD:730908 D RGD:9068941 20220317 RGD human cells in mouse model PMID:17374736|REF_RGD_ID:151665154 8845836 Cd79b CD79b molecule gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:730908 D RGD:9068941 20220311 RGD human cells in mouse model PMID:19633198|REF_RGD_ID:151665149 8845836 Cd79b CD79b molecule gene DOID:0081138 agammaglobulinemia 6 ISO RGD:730908 D RGD:7240710 20180130 OMIM 8845836 Cd79b CD79b molecule gene DOID:0081138 agammaglobulinemia 6 ISO RGD:730908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive PMID:17576681|PMID:17675462|PMID:17709424|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098 8845836 Cd79b CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:9068941 20220311 RGD protein:decreased expression:peripheral blood cells (human) PMID:10516749|REF_RGD_ID:151665125 8845836 Cd79b CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:9068941 20220317 RGD mRNA, protein:splice variants, alternative forms:exon 3 (human) PMID:10090943|REF_RGD_ID:151665190 8845836 Cd79b CD79b molecule gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730908 D RGD:9068941 20220317 RGD protein:decreased expression:blood, B cell (human) PMID:10329919|REF_RGD_ID:11531139 8845836 Cd79b CD79b molecule gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:730908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 8845836 Cd79b CD79b molecule gene DOID:2583 agammaglobulinemia ISO RGD:730908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8845836 Cd79b CD79b molecule gene DOID:3234 central nervous system lymphoma treatment ISO RGD:730908 D RGD:9068941 20220317 RGD PMID:28619981|REF_RGD_ID:151665208 8845836 Cd79b CD79b molecule gene DOID:409 liver disease ISO RGD:730908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8845836 Cd79b CD79b molecule gene DOID:630 genetic disease ISO RGD:730908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8845836 Cd79b CD79b molecule gene DOID:8584 Burkitt lymphoma treatment ISO RGD:730908 D RGD:9068941 20220317 RGD human cells in mouse model PMID:17374736|REF_RGD_ID:151665154 8845836 Cd79b CD79b molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730908 D RGD:9068941 20200609 RGD protein:decreased expression:B lymphocyte, cell surface (human) PMID:9269755|REF_RGD_ID:11250403 8845836 Cd79b CD79b molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730908 D RGD:9068941 20220317 RGD DNA:polymorphism:multiple (human) PMID:10552962|REF_RGD_ID:151665202 8845836 Cd79b CD79b molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730908 D RGD:9068941 20220317 RGD mRNA, protein:splice variants, alternative forms:exon 3 (human) PMID:10090943|REF_RGD_ID:151665190 8845836 Cd79b CD79b molecule gene DOID:9952 acute lymphoblastic leukemia ISO RGD:730908 D RGD:9068941 20200609 RGD protein:decreased expression:bone marrow, mononuclear cell (human) PMID:21487112|REF_RGD_ID:11250414 8845849 Tmem26 transmembrane protein 26 gene DOID:630 genetic disease ISO RGD:1319527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845859 Lhfpl3 LHFPL tetraspan subfamily member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8845859 Lhfpl3 LHFPL tetraspan subfamily member 3 gene DOID:630 genetic disease ISO RGD:1349891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845871 Spmip10 sperm microtubule inner protein 10 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:1605198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy PMID:25741868 8845871 Spmip10 sperm microtubule inner protein 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605198 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8845871 Spmip10 sperm microtubule inner protein 10 gene DOID:630 genetic disease ISO RGD:1605198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845871 Spmip10 sperm microtubule inner protein 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8845871 Spmip10 sperm microtubule inner protein 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605198 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8845886 Haus3 HAUS augmin like complex subunit 3 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1312658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8845886 Haus3 HAUS augmin like complex subunit 3 gene DOID:1856 cherubism ISO RGD:1312658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8845886 Haus3 HAUS augmin like complex subunit 3 gene DOID:630 genetic disease ISO RGD:1312658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845911 Slc9a2 solute carrier family 9 member A2 gene DOID:0080685 aortic dissection ISO RGD:730959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 8845911 Slc9a2 solute carrier family 9 member A2 gene DOID:630 genetic disease ISO RGD:730959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845911 Slc9a2 solute carrier family 9 member A2 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:730959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 8845911 Slc9a2 solute carrier family 9 member A2 gene DOID:9000197 Edema ISO RGD:730959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20553904 8845926 Net1 neuroepithelial cell transforming 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1312823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8845926 Net1 neuroepithelial cell transforming 1 gene DOID:0080600 COVID-19 ISO RGD:1312823 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8845926 Net1 neuroepithelial cell transforming 1 gene DOID:2843 long QT syndrome ISO RGD:1312823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8845926 Net1 neuroepithelial cell transforming 1 gene DOID:3070 high grade glioma ISO RGD:1312823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8845926 Net1 neuroepithelial cell transforming 1 gene DOID:5419 schizophrenia ISO RGD:1312823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8845926 Net1 neuroepithelial cell transforming 1 gene DOID:630 genetic disease ISO RGD:1312823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845945 Rnf212b ring finger protein 212B gene DOID:0060439 lysinuric protein intolerance ISO RGD:1347248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8845945 Rnf212b ring finger protein 212B gene DOID:9000265 Specific Granule Deficiency ISO RGD:1347248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 8845945 Rnf212b ring finger protein 212B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1347248 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8845963 Prss48 serine protease 48 gene DOID:4990 essential tremor ISO RGD:1605534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 8845963 Prss48 serine protease 48 gene DOID:630 genetic disease ISO RGD:1605534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845975 Wdr5 WD repeat domain 5 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8845975 Wdr5 WD repeat domain 5 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8845975 Wdr5 WD repeat domain 5 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8845975 Wdr5 WD repeat domain 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8845975 Wdr5 WD repeat domain 5 gene DOID:0081097 Rafiq syndrome ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8845975 Wdr5 WD repeat domain 5 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8845975 Wdr5 WD repeat domain 5 gene DOID:1682 congenital heart disease ISO RGD:1349800 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Congenital heart disease 8845975 Wdr5 WD repeat domain 5 gene DOID:3652 Leigh disease ISO RGD:1349800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8845975 Wdr5 WD repeat domain 5 gene DOID:630 genetic disease ISO RGD:1349800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845998 Il17b interleukin 17B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8845998 Il17b interleukin 17B gene DOID:630 genetic disease ISO RGD:1352071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8845998 Il17b interleukin 17B gene DOID:9003318 Keratoconus 1 ISO RGD:1352071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 8845998 Il17b interleukin 17B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8845998 Il17b interleukin 17B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352071 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8846021 Ropn1 rhophilin associated tail protein 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8846021 Ropn1 rhophilin associated tail protein 1 gene DOID:630 genetic disease ISO RGD:1344223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846021 Ropn1 rhophilin associated tail protein 1 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1344223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 8846021 Ropn1 rhophilin associated tail protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8846021 Ropn1 rhophilin associated tail protein 1 gene DOID:9270 alkaptonuria ISO RGD:1344223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1350353 D RGD:7240710 20180613 OMIM 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:0050757 deafness-dystonia-optic neuronopathy syndrome ISO RGD:1350353 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness dystonia syndrome PMID:10878669|PMID:11405816|PMID:11601506|PMID:11803487|PMID:15037720|PMID:15710860|PMID:16411215|PMID:17851739|PMID:17936919|PMID:17999202|PMID:20301395|PMID:24033266|PMID:25741868|PMID:8841189 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350353 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:11956200|PMID:21984432|PMID:22736418|PMID:28492532|PMID:7711734|PMID:9445504|PMID:9545398 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:12849 autistic disorder ISO RGD:1350353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:14499 Fabry disease ISO RGD:1350353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:3910 lung adenocarcinoma ISO RGD:1551300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:543 dystonia ISO RGD:1350353 D RGD:9068941 20200609 RGD DNA:deletion:cds:108delG(human) PMID:11601506|REF_RGD_ID:13209134 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:543 dystonia susceptibility ISO RGD:1350353 D RGD:9068941 20200609 RGD DNA:mutation:exon; associated with deafness PMID:11405816|REF_RGD_ID:1600152 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:630 genetic disease ISO RGD:1350353 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:9001890 Auditory Neuropathy ISO RGD:1350353 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy PMID:30634948 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:9006205 Animal Disease Models ISO RGD:1551300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8846032 Timm8a translocase of inner mitochondrial membrane 8A gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 8846038 Fance FA complementation group E gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1354425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8846038 Fance FA complementation group E gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1354425 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex PMID:24728327|PMID:25741868|PMID:28492532 8846038 Fance FA complementation group E gene DOID:0111084 Fanconi anemia complementation group E ISO RGD:1354425 D RGD:7240710 20180130 OMIM 8846038 Fance FA complementation group E gene DOID:0111084 Fanconi anemia complementation group E ISO RGD:1354425 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group E PMID:10205272|PMID:11001585|PMID:14695169|PMID:15609317|PMID:16199547|PMID:16774934|PMID:17308347|PMID:17576681|PMID:17924555|PMID:18271933|PMID:21279724|PMID:22778927|PMID:24033266|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26689913|PMID:26822949|PMID:27165003|PMID:27913932|PMID:28492532|PMID:29625052|PMID:30609409|PMID:31102422|PMID:32487094|PMID:32546565|PMID:32947577|PMID:33084842|PMID:33270637|PMID:33326660|PMID:34687117|PMID:35295078|PMID:36463940|PMID:7662964|PMID:9382107|PMID:9536098 8846038 Fance FA complementation group E gene DOID:10907 microcephaly ISO RGD:1354425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8846038 Fance FA complementation group E gene DOID:13636 Fanconi anemia ISO RGD:1354425 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11001585|PMID:17924555|PMID:24728327|PMID:25741868|PMID:28492532|PMID:32546565|PMID:33084842|PMID:33326660 8846038 Fance FA complementation group E gene DOID:1520 colon carcinoma ISO RGD:1354425 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003|PMID:28492532|PMID:34687117 8846038 Fance FA complementation group E gene DOID:1612 breast cancer ISO RGD:1354425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 8846038 Fance FA complementation group E gene DOID:2394 ovarian cancer ISO RGD:1354425 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 8846038 Fance FA complementation group E gene DOID:4905 pancreatic carcinoma ISO RGD:1354425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:11001585|PMID:17924555|PMID:21279724|PMID:25741868|PMID:26822949|PMID:28492532 8846038 Fance FA complementation group E gene DOID:5426 primary ovarian insufficiency ISO RGD:1614308 D RGD:9068941 20200609 RGD PMID:26939056|REF_RGD_ID:11344915 8846038 Fance FA complementation group E gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354425 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:33326660 8846038 Fance FA complementation group E gene DOID:630 genetic disease ISO RGD:1354425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8846061 Mogs mannosyl-oligosaccharide glucosidase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:732423 D RGD:7240710 20180130 OMIM 8846061 Mogs mannosyl-oligosaccharide glucosidase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:732423 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CDG IIb | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIb | ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY PMID:10788335|PMID:12145188|PMID:16199547|PMID:24716661|PMID:25531304|PMID:25741868|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532|PMID:29235540|PMID:30587846|PMID:31925597|PMID:32246563|PMID:32860008|PMID:33058492|PMID:33261925|PMID:35790351 8846061 Mogs mannosyl-oligosaccharide glucosidase gene DOID:543 dystonia ISO RGD:732423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8846061 Mogs mannosyl-oligosaccharide glucosidase gene DOID:630 genetic disease ISO RGD:732423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8846061 Mogs mannosyl-oligosaccharide glucosidase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:732423 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8846079 LOC102027959 olfactory receptor 6M1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1344052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8846079 LOC102027959 olfactory receptor 6M1 gene DOID:5419 schizophrenia ISO RGD:1344052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8846079 LOC102027959 olfactory receptor 6M1 gene DOID:630 genetic disease ISO RGD:1344052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846079 LOC102027959 olfactory receptor 6M1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8846079 LOC102027959 olfactory receptor 6M1 gene DOID:9007661 Dwarfism ISO RGD:1344052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8846088 Chst15 carbohydrate sulfotransferase 15 gene DOID:630 genetic disease ISO RGD:1602484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846088 Chst15 carbohydrate sulfotransferase 15 gene DOID:9005172 Lung Neoplasms ISO RGD:1602484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:0050830 peripheral artery disease treatment ISO RGD:1551245 D RGD:9068941 20230722 RGD associated with Experimental Diabetes Mellitus PMID:31623833|REF_RGD_ID:329961326 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:0080600 COVID-19 ISO RGD:1345739 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:1345739 D RGD:9068941 20230803 RGD PMID:12451130|PMID:15684695|PMID:23831692|REF_RGD_ID:1580026|REF_RGD_ID:401700381|REF_RGD_ID:628489 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:61992 D RGD:9068941 20230803 RGD PMID:16708545|PMID:25592335|REF_RGD_ID:329970292|REF_RGD_ID:401700385 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:0090043 dystonia 5 ISO RGD:1345739 D RGD:7240710 20180130 OMIM 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:0090043 dystonia 5 ISO RGD:1345739 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dopa-responsive dystonia | ClinVar Annotator: match by term: Dystonia 5 | ClinVar Annotator: match by term: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | ClinVar Annotator: match by term: Dystonia, Dopa-responsive, autosomal dominant PMID:10078749|PMID:10208576|PMID:10457396|PMID:10496263|PMID:10732814|PMID:10825351|PMID:10984670|PMID:10987649|PMID:11026444|PMID:11113234|PMID:11359069|PMID:11486899|PMID:12112113|PMID:12391354|PMID:12473771|PMID:12707079|PMID:12874420|PMID:1449240|PMID:15303002|PMID:15389992|PMID:15753436|PMID:15852365|PMID:16199547|PMID:16289769|PMID:16917893|PMID:17044972|PMID:17101830|PMID:17111153|PMID:17557242|PMID:17576681|PMID:17804835|PMID:17898029|PMID:18044725|PMID:18276179|PMID:18554280|PMID:18587264|PMID:18752196|PMID:19234759|PMID:19332422|PMID:19491146|PMID:19566901|PMID:20082337|PMID:20108370|PMID:20187889|PMID:20437540|PMID:20491893|PMID:20818608|PMID:20842687|PMID:20937667|PMID:21412842|PMID:21674621|PMID:21935284|PMID:22373569|PMID:23211702|PMID:23430498|PMID:23762320|PMID:23942198|PMID:24033266|PMID:24124602|PMID:24255805|PMID:24474670|PMID:24509643|PMID:24993959|PMID:25125585|PMID:25150291|PMID:25181484|PMID:25398234|PMID:25416181|PMID:25497597|PMID:25557619|PMID:25640679|PMID:25741868|PMID:26230973|PMID:26400349|PMID:26467025|PMID:27185167|PMID:27217339|PMID:27313105|PMID:27619486|PMID:27666935|PMID:28397219|PMID:28492532|PMID:28582483|PMID:28958832|PMID:29290055|PMID:29470312|PMID:29471552|PMID:29948246|PMID:30314816|PMID:30894892|PMID:30911941|PMID:31130284|PMID:31178337|PMID:31213404|PMID:33713342|PMID:33875303|PMID:34054692|PMID:34426522|PMID:34997870|PMID:35083481|PMID:7544125|PMID:7730309|PMID:7869202|PMID:7874165|PMID:8298648|PMID:8619546|PMID:8852666|PMID:9120469|PMID:9328244|PMID:9536098|PMID:9566388|PMID:9576537|PMID:9585358|PMID:9626769|PMID:9667588|PMID:9749603|PMID:9778264|PMID:9886460 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:25741868 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1345739 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:0112225 BH4-deficient hyperphenylalaninemia B ISO RGD:1345739 D RGD:7240710 20180130 OMIM 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:0112225 BH4-deficient hyperphenylalaninemia B ISO RGD:1345739 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B PMID:10496263|PMID:10582612|PMID:12391354|PMID:12707079|PMID:12874420|PMID:15133828|PMID:15303002|PMID:15389992|PMID:15753436|PMID:15852365|PMID:17044972|PMID:17101830|PMID:17576681|PMID:17898029|PMID:18044725|PMID:19234759|PMID:19332422|PMID:19491146|PMID:20842687|PMID:22373569|PMID:23430498|PMID:23942198|PMID:24033266|PMID:24509643|PMID:24993959|PMID:25125585|PMID:25150291|PMID:25398234|PMID:25416181|PMID:25497597|PMID:25741868|PMID:26230973|PMID:26467025|PMID:27185167|PMID:27217339|PMID:27246466|PMID:27313105|PMID:28397219|PMID:28492532|PMID:28958832|PMID:29471552|PMID:29948246|PMID:30314816|PMID:30894892|PMID:30911941|PMID:31213404|PMID:33713342|PMID:34054692|PMID:35083481|PMID:7730309|PMID:7869202|PMID:8852666|PMID:9328244|PMID:9536098|PMID:9667588|PMID:9886460 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:1059 intellectual disability ISO RGD:1345739 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30314816|PMID:34426522|PMID:9667588 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:10762 portal hypertension treatment ISO RGD:61992 D RGD:9068941 20230722 RGD associated with liver cirrhosis PMID:35004731|REF_RGD_ID:329961333 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:10763 hypertension ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12855421 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:10763 hypertension ISO RGD:61992 D RGD:9068941 20230722 RGD mRNA:decreased expression:aorta PMID:12623977|REF_RGD_ID:329961330 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:10763 hypertension ISO RGD:61992 D RGD:9068941 20230729 RGD PMID:15167268|REF_RGD_ID:329970288 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:10763 hypertension sexual_dimorphism ISO RGD:1345739 D RGD:9068941 20230722 RGD DNA:SNV:3' UTR: 59038C>T (rs841, +243C>T) (human) PMID:17717598|REF_RGD_ID:329961329 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:10763 hypertension treatment ISO RGD:1345739 D RGD:9068941 20230803 RGD PMID:12925450|REF_RGD_ID:401700397 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:10763 hypertension treatment ISO RGD:61992 D RGD:9068941 20230803 RGD PMID:33857222|REF_RGD_ID:401700394 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:10923 sickle cell anemia sexual_dimorphism ISO RGD:1345739 D RGD:9068941 20230727 RGD DNA:SNP, haplotype:rs8007267 (human) PMID:24136375|REF_RGD_ID:329961567 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:11446 sciatic neuropathy ISO RGD:61992 D RGD:9068941 20230803 RGD protein:increased expression:dorsal horn of spinal cord PMID:23515624|REF_RGD_ID:401700393 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:11713 diabetic angiopathy ISO RGD:1345739 D RGD:9068941 20230722 RGD associated with type 2 diabetes mellitus;DNA:SNV: :C59038T (human) PMID:19515581|REF_RGD_ID:329961327 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:61992 D RGD:9068941 20230729 RGD PMID:20132096|REF_RGD_ID:329970291 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1345739 D RGD:9068941 20230729 RGD mRNA:decreased expression:endocardium PMID:15698596|REF_RGD_ID:329970287 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:1826 epilepsy ISO RGD:1345739 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:61992 D RGD:9068941 20230727 RGD PMID:9920651|REF_RGD_ID:329961573 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:3312 bipolar disorder ISO RGD:1345739 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15909293|REF_RGD_ID:1601281 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:61992 D RGD:9068941 20230805 RGD PMID:24956890|REF_RGD_ID:401717568 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:3526 cerebral infarction ISO RGD:1345739 D RGD:9068941 20230727 RGD DNA:SNP, haplotype:rs841 (human) PMID:21963893|REF_RGD_ID:329961572 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:3526 cerebral infarction exacerbates ISO RGD:1345739 D RGD:9068941 20230722 RGD DNA:SNP:3' UTR:+243C>T (human) PMID:21181356|REF_RGD_ID:329961322 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:3526 cerebral infarction treatment ISO RGD:61992 D RGD:9068941 20230727 RGD PMID:16282548|REF_RGD_ID:329961574 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:61992 D RGD:9068941 20230803 RGD PMID:23739137|REF_RGD_ID:401700390 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:5082 liver cirrhosis ISO RGD:61992 D RGD:9068941 20230729 RGD mRNA, protein:decreased expression:liver PMID:16799985|REF_RGD_ID:329970289 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:5295 intestinal disease treatment ISO RGD:61992 D RGD:9068941 20230722 RGD associated with Experimental Radiation Injuries PMID:33967762|REF_RGD_ID:329961325 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:535 sleep disorder ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:543 dystonia ISO RGD:1345739 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:16199547|PMID:19332422|PMID:19491146|PMID:25557619|PMID:25741868|PMID:28492532|PMID:8619546|PMID:9667588 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:5844 myocardial infarction treatment ISO RGD:61992 D RGD:9068941 20230729 RGD PMID:26192027|PMID:32782412|REF_RGD_ID:329961570|REF_RGD_ID:329970290 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:6000 congestive heart failure treatment ISO RGD:61992 D RGD:9068941 20230722 RGD PMID:30878404|REF_RGD_ID:329961332 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:630 genetic disease ISO RGD:1345739 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12391354|PMID:15303002|PMID:17044972|PMID:17576681|PMID:18044725|PMID:19234759|PMID:19332422|PMID:19491146|PMID:23430498|PMID:23942198|PMID:24993959|PMID:25181484|PMID:25497597|PMID:25741868|PMID:26467025|PMID:27313105|PMID:28492532|PMID:29471552|PMID:30314816|PMID:30894892|PMID:35083481|PMID:8852666|PMID:9536098|PMID:9566388|PMID:9667588|PMID:9778264|PMID:9886460 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9000641 Pain ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19081190 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9000831 Hypokinesia ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17368676 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9001480 Muscle Rigidity ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17368676 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345739 D RGD:9068941 20230727 RGD DNa:SNP: :rs3783637 (human) PMID:26232608|REF_RGD_ID:329961571 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9002563 Gait Ataxia ISO RGD:1345739 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Gait ataxia PMID:25741868 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1345739 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive PMID:10987649|PMID:12112113|PMID:12391354|PMID:12552057|PMID:1449240|PMID:15303002|PMID:15753436|PMID:16917893|PMID:17044972|PMID:17898029|PMID:18044725|PMID:19234759|PMID:19332422|PMID:21412842|PMID:23430498|PMID:23942198|PMID:24993959|PMID:25497597|PMID:25741868|PMID:26467025|PMID:27313105|PMID:28492532|PMID:29471552|PMID:30314816|PMID:30894892|PMID:34426522|PMID:35083481|PMID:8298648|PMID:8852666|PMID:9667588|PMID:9886460 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9004484 Sepsis treatment ISO RGD:61992 D RGD:9068941 20230803 RGD associated with Staphylococcal Infections PMID:12441764|REF_RGD_ID:401700401 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9004484 Sepsis treatment ISO RGD:61992 D RGD:9068941 20230805 RGD PMID:29428597|REF_RGD_ID:401717570 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9004663 Intestinal Ischemia ISO RGD:61992 D RGD:9068941 20230722 RGD associated with Experimental Radiation Injuries;mRNA,protein:decreased expression:mesenteric artery PMID:32562786|REF_RGD_ID:329961328 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9005228 Musculoskeletal Pain ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9005532 Muscle Weakness ISO RGD:1345739 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1551245 D RGD:9068941 20230722 RGD protein:increased degradation:heart PMID:27295516|REF_RGD_ID:329961323 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:61992 D RGD:9068941 20230803 RGD PMID:18061195|REF_RGD_ID:2314434 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:61992 D RGD:9068941 20230803 RGD associated with type 1 diabetes mellitus PMID:18596126|REF_RGD_ID:401700392 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9005930 Endotoxemia ISO RGD:61992 D RGD:9068941 20230727 RGD mRNA:increased expression:lung PMID:9388472|REF_RGD_ID:329961576 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9005930 Endotoxemia ISO RGD:61992 D RGD:9068941 20230803 RGD associated with liver cirrhosis PMID:14647062|REF_RGD_ID:401700399 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:61992 D RGD:9068941 20230824 RGD PMID:16845913|REF_RGD_ID:401793756 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9005968 Neuralgia treatment ISO RGD:61992 D RGD:9068941 20230803 RGD PMID:19922668|REF_RGD_ID:401700384 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:61992 D RGD:9068941 20230729 RGD PMID:34200262|REF_RGD_ID:329970293 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9007601 endotoxin shock treatment ISO RGD:61992 D RGD:9068941 20230727 RGD PMID:8602831|REF_RGD_ID:329961578 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1345739 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15659429 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9008820 Visceral Pain treatment ISO RGD:1345739 D RGD:9068941 20230803 RGD DNA:haplotype PMID:25783971|REF_RGD_ID:401700391 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9008820 Visceral Pain treatment ISO RGD:61992 D RGD:9068941 20230803 RGD PMID:25783971|REF_RGD_ID:401700391 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9281 phenylketonuria ISO RGD:1345739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric PMID:15389992|PMID:19491146|PMID:24993959|PMID:25125585|PMID:25398234|PMID:25497597|PMID:25741868|PMID:26230973|PMID:26467025|PMID:27185167|PMID:27217339|PMID:28492532|PMID:30314816 8846111 Gch1 GTP cyclohydrolase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345739 D RGD:9068941 20230722 RGD DNA:SNPs,haplotypes: :multiple PMID:25369080|REF_RGD_ID:329961331 8846121 Clip1 CAP-Gly domain containing linker protein 1 gene DOID:1059 intellectual disability ISO RGD:69221 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: CLIP1-related intellectual disability 8846121 Clip1 CAP-Gly domain containing linker protein 1 gene DOID:630 genetic disease ISO RGD:69221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8846121 Clip1 CAP-Gly domain containing linker protein 1 gene DOID:9007661 Dwarfism ISO RGD:69221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8846121 Clip1 CAP-Gly domain containing linker protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:69221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8846193 Vax2 ventral anterior homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8846193 Vax2 ventral anterior homeobox 2 gene DOID:543 dystonia ISO RGD:731657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8846193 Vax2 ventral anterior homeobox 2 gene DOID:630 genetic disease ISO RGD:731657 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8846193 Vax2 ventral anterior homeobox 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:731657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8846200 Thyn1 thymocyte nuclear protein 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8846200 Thyn1 thymocyte nuclear protein 1 gene DOID:5419 schizophrenia ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8846200 Thyn1 thymocyte nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1606014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846200 Thyn1 thymocyte nuclear protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8846200 Thyn1 thymocyte nuclear protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8846200 Thyn1 thymocyte nuclear protein 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8846200 Thyn1 thymocyte nuclear protein 1 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1606014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 8846217 Samd13 sterile alpha motif domain containing 13 gene DOID:630 genetic disease ISO RGD:1606448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846231 Tdrd3 tudor domain containing 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1320851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8846231 Tdrd3 tudor domain containing 3 gene DOID:630 genetic disease ISO RGD:1320851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846268 Sik1 salt inducible kinase 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:69451 D RGD:7240710 20180130 OMIM 8846268 Sik1 salt inducible kinase 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:69451 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:15511237|PMID:17576681|PMID:25741868|PMID:25839329|PMID:26467025|PMID:26567857|PMID:27966542|PMID:28492532|PMID:31780880|PMID:36703223|PMID:8596935|PMID:9536098 8846268 Sik1 salt inducible kinase 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8846268 Sik1 salt inducible kinase 1 gene DOID:12849 autistic disorder ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8846268 Sik1 salt inducible kinase 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:69451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16243910 8846268 Sik1 salt inducible kinase 1 gene DOID:1826 epilepsy ISO RGD:69451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8846268 Sik1 salt inducible kinase 1 gene DOID:630 genetic disease ISO RGD:69451 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15511237|PMID:25741868|PMID:26467025|PMID:26567857|PMID:28492532|PMID:36703223 8846268 Sik1 salt inducible kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8846268 Sik1 salt inducible kinase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:69451 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8846268 Sik1 salt inducible kinase 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8846268 Sik1 salt inducible kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8846268 Sik1 salt inducible kinase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8846268 Sik1 salt inducible kinase 1 gene DOID:9263 homocystinuria ISO RGD:69451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8846268 Sik1 salt inducible kinase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:69451 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8846286 Eif3a eukaryotic translation initiation factor 3 subunit A gene DOID:630 genetic disease ISO RGD:1316362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846286 Eif3a eukaryotic translation initiation factor 3 subunit A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316362 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8846316 Dtymk deoxythymidylate kinase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1320047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8846316 Dtymk deoxythymidylate kinase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1320047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8846316 Dtymk deoxythymidylate kinase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1320047 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8846316 Dtymk deoxythymidylate kinase gene DOID:1059 intellectual disability ISO RGD:1320047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8846316 Dtymk deoxythymidylate kinase gene DOID:630 genetic disease ISO RGD:1320047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846316 Dtymk deoxythymidylate kinase gene DOID:9000359 NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY ISO RGD:1320047 D RGD:7240710 20220629 OMIM 8846316 Dtymk deoxythymidylate kinase gene DOID:9000359 NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY ISO RGD:1320047 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly PMID:31271740|PMID:34918187|PMID:34926941 8846316 Dtymk deoxythymidylate kinase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1320047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8846316 Dtymk deoxythymidylate kinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1309614 D RGD:9068941 20200609 RGD protein:increased activity:tumor (rat) PMID:6244089|REF_RGD_ID:5133686 8846362 Pcdh8 protocadherin 8 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:735353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8846362 Pcdh8 protocadherin 8 gene DOID:1059 intellectual disability ISO RGD:735353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8846362 Pcdh8 protocadherin 8 gene DOID:630 genetic disease ISO RGD:735353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846362 Pcdh8 protocadherin 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8846363 Timeless timeless circadian regulator gene DOID:1574 alcohol use disorder susceptibility ISO RGD:731567 D RGD:9068941 20240229 RGD DNA:SNP:: (rs2291738) (human) PMID:20554694|REF_RGD_ID:401976551 8846363 Timeless timeless circadian regulator gene DOID:630 genetic disease ISO RGD:731567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846363 Timeless timeless circadian regulator gene DOID:9004338 Advanced Sleep Phase Syndrome 4, Familial ISO RGD:731567 D RGD:7240710 20220831 OMIM 8846363 Timeless timeless circadian regulator gene DOID:9004338 Advanced Sleep Phase Syndrome 4, Familial ISO RGD:731567 D RGD:8554872 20240123 ClinVar ClinVar Annotator: match by term: Advance sleep phase syndrome, familial, 4 PMID:25741868 8846397 Ints2 integrator complex subunit 2 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1606257 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex PMID:25741868 8846397 Ints2 integrator complex subunit 2 gene DOID:11372 megacolon ISO RGD:1606257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8846397 Ints2 integrator complex subunit 2 gene DOID:630 genetic disease ISO RGD:1606257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846457 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:1602427 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:23348741|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28958982 8846457 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1602427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8846457 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110524 autosomal recessive nonsyndromic deafness 76 ISO RGD:1602427 D RGD:7240710 20180130 OMIM 8846457 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110524 autosomal recessive nonsyndromic deafness 76 ISO RGD:1602427 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 76 PMID:23348741|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28958982|PMID:35802133|PMID:36633841 8846457 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8846457 Syne4 spectrin repeat containing nuclear envelope family member 4 gene DOID:630 genetic disease ISO RGD:1602427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8846512 Hmga1 high mobility group AT-hook 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1345409 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8846512 Hmga1 high mobility group AT-hook 1 gene DOID:1967 leiomyosarcoma ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645019 8846512 Hmga1 high mobility group AT-hook 1 gene DOID:4195 hyperglycemia ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 8846512 Hmga1 high mobility group AT-hook 1 gene DOID:630 genetic disease ISO RGD:1345409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846512 Hmga1 high mobility group AT-hook 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645019 8846512 Hmga1 high mobility group AT-hook 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 8846512 Hmga1 high mobility group AT-hook 1 gene DOID:9007692 Insulin Resistance ISO RGD:1345409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23512162 8846512 Hmga1 high mobility group AT-hook 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to PMID:15924147|PMID:21364139 8846512 Hmga1 high mobility group AT-hook 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1345409 D RGD:7240710 20230505 OMIM 8846529 Cilp2 cartilage intermediate layer protein 2 gene DOID:630 genetic disease ISO RGD:1322465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846551 Hat1 histone acetyltransferase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1313912 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8846551 Hat1 histone acetyltransferase 1 gene DOID:630 genetic disease ISO RGD:1313912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846551 Hat1 histone acetyltransferase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1305716 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17182829|REF_RGD_ID:2316578 8846566 Bcl2a1 BCL2 related protein A1 gene DOID:0080600 COVID-19 ISO RGD:733985 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8846566 Bcl2a1 BCL2 related protein A1 gene DOID:1205 allergic disease ISO RGD:1621639 D RGD:9068941 20200609 RGD PMID:11733571|REF_RGD_ID:734640 8846566 Bcl2a1 BCL2 related protein A1 gene DOID:2717 Bloom syndrome ISO RGD:733985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8846566 Bcl2a1 BCL2 related protein A1 gene DOID:630 genetic disease ISO RGD:733985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846566 Bcl2a1 BCL2 related protein A1 gene DOID:7148 rheumatoid arthritis ISO RGD:733985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8846566 Bcl2a1 BCL2 related protein A1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634542 8846566 Bcl2a1 BCL2 related protein A1 gene DOID:9008939 Breast Neoplasms ISO RGD:733985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17659439 8846566 Bcl2a1 BCL2 related protein A1 gene DOID:9256 colorectal cancer ISO RGD:733985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8846577 Gemin2 gem nuclear organelle associated protein 2 gene DOID:630 genetic disease ISO RGD:1351557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846577 Gemin2 gem nuclear organelle associated protein 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351557 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8846616 Ldha lactate dehydrogenase A gene DOID:0050700 cardiomyopathy ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15231041 8846616 Ldha lactate dehydrogenase A gene DOID:0080108 myoglobinuria ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21332213 8846616 Ldha lactate dehydrogenase A gene DOID:0080600 COVID-19 ISO RGD:736025 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8846616 Ldha lactate dehydrogenase A gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:736025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 8846616 Ldha lactate dehydrogenase A gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:736025 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8846616 Ldha lactate dehydrogenase A gene DOID:1059 intellectual disability ISO RGD:736025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8846616 Ldha lactate dehydrogenase A gene DOID:1062 Fanconi syndrome ISO RGD:736025 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI PMID:16199547|PMID:17576681|PMID:1953713|PMID:1959923|PMID:2334430|PMID:25741868|PMID:26838040|PMID:28492532|PMID:3092644|PMID:36292720|PMID:7603529|PMID:7944300|PMID:8327147|PMID:9536098 8846616 Ldha lactate dehydrogenase A gene DOID:10763 hypertension treatment ISO RGD:2996 D RGD:9068941 20230720 RGD PMID:31572179|REF_RGD_ID:329956417 8846616 Ldha lactate dehydrogenase A gene DOID:1793 pancreatic cancer ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29384525 8846616 Ldha lactate dehydrogenase A gene DOID:3910 lung adenocarcinoma ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8846616 Ldha lactate dehydrogenase A gene DOID:4195 hyperglycemia ISO RGD:2996 D RGD:9068941 20200609 RGD mRNA:increased expression:beta cell PMID:12438314|REF_RGD_ID:1600277 8846616 Ldha lactate dehydrogenase A gene DOID:5844 myocardial infarction ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3279722 8846616 Ldha lactate dehydrogenase A gene DOID:630 genetic disease ISO RGD:736025 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8846616 Ldha lactate dehydrogenase A gene DOID:9002170 Experimental Neoplasms ISO RGD:2996 D RGD:9068941 20200609 RGD PMID:11085542|REF_RGD_ID:1600281 8846616 Ldha lactate dehydrogenase A gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:736025 D RGD:7240710 20180130 OMIM 8846616 Ldha lactate dehydrogenase A gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:736025 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI | ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A PMID:16199547|PMID:17576681|PMID:1953713|PMID:1959923|PMID:2334430|PMID:25741868|PMID:26838040|PMID:28492532|PMID:3092644|PMID:36292720|PMID:7603529|PMID:7944300|PMID:8327147|PMID:9536098 8846616 Ldha lactate dehydrogenase A gene DOID:9004590 Acute Liver Failure ISO RGD:736025 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 8846616 Ldha lactate dehydrogenase A gene DOID:9006205 Animal Disease Models ISO RGD:736025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8846637 Cars2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:0111489 combined oxidative phosphorylation deficiency 27 ISO RGD:1606504 D RGD:7240710 20180130 OMIM 8846637 Cars2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:0111489 combined oxidative phosphorylation deficiency 27 ISO RGD:1606504 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 PMID:16199547|PMID:17576681|PMID:25361775|PMID:25640679|PMID:25741868|PMID:25787132|PMID:26257172|PMID:28492532|PMID:30139652|PMID:32571458|PMID:34426522|PMID:34690748|PMID:34704010|PMID:36360262|PMID:9536098 8846637 Cars2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:10907 microcephaly ISO RGD:1606504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8846637 Cars2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:2222 factor X deficiency ISO RGD:1606504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8846637 Cars2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1606504 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30139652|PMID:34426522|PMID:34690748|PMID:36360262 8846637 Cars2 cysteinyl-tRNA synthetase 2, mitochondrial gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1606504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8846662 Csrnp2 cysteine and serine rich nuclear protein 2 gene DOID:630 genetic disease ISO RGD:1318958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846681 Znf280d zinc finger protein 280D gene DOID:2717 Bloom syndrome ISO RGD:1323434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8846681 Znf280d zinc finger protein 280D gene DOID:630 genetic disease ISO RGD:1323434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846681 Znf280d zinc finger protein 280D gene DOID:9256 colorectal cancer ISO RGD:1323434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8846721 Vamp3 vesicle associated membrane protein 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736779 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8846721 Vamp3 vesicle associated membrane protein 3 gene DOID:630 genetic disease ISO RGD:736779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846721 Vamp3 vesicle associated membrane protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8846731 Srprb SRP receptor subunit beta gene DOID:630 genetic disease ISO RGD:1312294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846731 Srprb SRP receptor subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8846753 Map7d1 MAP7 domain containing 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8846753 Map7d1 MAP7 domain containing 1 gene DOID:630 genetic disease ISO RGD:1603999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846827 Mcm7 minichromosome maintenance complex component 7 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1347363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:33654309 8846827 Mcm7 minichromosome maintenance complex component 7 gene DOID:11782 astigmatism ISO RGD:1347363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868|PMID:33654309 8846827 Mcm7 minichromosome maintenance complex component 7 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347363 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreatic duct PMID:15548371|REF_RGD_ID:2317697 8846827 Mcm7 minichromosome maintenance complex component 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8846827 Mcm7 minichromosome maintenance complex component 7 gene DOID:630 genetic disease ISO RGD:1347363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846827 Mcm7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1303018 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 8846827 Mcm7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1347363 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 8846827 Mcm7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1557018 D RGD:9068941 20200609 RGD associated with hepatitis B;miRNA:increased expression:liver (human) PMID:27298561|REF_RGD_ID:15042853 8846827 Mcm7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1303018 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human) PMID:24416400|REF_RGD_ID:15042885 8846827 Mcm7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1347363 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human) PMID:24416400|REF_RGD_ID:15042885 8846827 Mcm7 minichromosome maintenance complex component 7 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1557018 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human) PMID:24416400|REF_RGD_ID:15042885 8846827 Mcm7 minichromosome maintenance complex component 7 gene DOID:7998 hyperthyroidism ISO RGD:1303018 D RGD:9068941 20200609 RGD PMID:17394799|REF_RGD_ID:2317698 8846876 B3gat2 beta-1,3-glucuronyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348026 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8846876 B3gat2 beta-1,3-glucuronyltransferase 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1348026 D RGD:9068941 20200609 RGD DNA:SNP: :rs2460691, rrs1094527(human) PMID:20950796|REF_RGD_ID:14390078 8846876 B3gat2 beta-1,3-glucuronyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846876 B3gat2 beta-1,3-glucuronyltransferase 2 gene DOID:9003505 Venous Thromboembolism ISO RGD:1348026 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1304029,rs2748331(human) PMID:28011674|REF_RGD_ID:14390077 8846876 B3gat2 beta-1,3-glucuronyltransferase 2 gene DOID:9206 Barrett's esophagus ISO RGD:1348026 D RGD:9068941 20200609 RGD DNA:hypermethylation:esophageal squamous epithelium PMID:26545406|REF_RGD_ID:11552890 8846884 Usp8 ubiquitin specific peptidase 8 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8846884 Usp8 ubiquitin specific peptidase 8 gene DOID:2717 Bloom syndrome ISO RGD:1312730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8846884 Usp8 ubiquitin specific peptidase 8 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312730 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35022897 8846884 Usp8 ubiquitin specific peptidase 8 gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1312730 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:25675982|PMID:25741868|PMID:25942478|PMID:28492532 8846884 Usp8 ubiquitin specific peptidase 8 gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:1312730 D RGD:7240710 20190315 OMIM 8846884 Usp8 ubiquitin specific peptidase 8 gene DOID:9256 colorectal cancer ISO RGD:1312730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8846916 Spock2 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 gene DOID:0111330 combined saposin deficiency ISO RGD:1318416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 8846916 Spock2 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 gene DOID:630 genetic disease ISO RGD:1318416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846931 Kif24 kinesin family member 24 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8846931 Kif24 kinesin family member 24 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1317081 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8846931 Kif24 kinesin family member 24 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1317081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 8846931 Kif24 kinesin family member 24 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8846931 Kif24 kinesin family member 24 gene DOID:574 peripheral nervous system disease ISO RGD:1317081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:26378787 8846931 Kif24 kinesin family member 24 gene DOID:630 genetic disease ISO RGD:1317081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8846931 Kif24 kinesin family member 24 gene DOID:870 neuropathy ISO RGD:1317081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:26378787 8846931 Kif24 kinesin family member 24 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317081 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8846931 Kif24 kinesin family member 24 gene DOID:9870 galactosemia ISO RGD:1317081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8846969 Fam91a1 family with sequence similarity 91 member A1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1605857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8846969 Fam91a1 family with sequence similarity 91 member A1 gene DOID:630 genetic disease ISO RGD:1605857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847005 Mthfd2l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like gene DOID:630 genetic disease ISO RGD:1345478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:0050700 cardiomyopathy treatment ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:17363697|REF_RGD_ID:11040927 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:0050827 rheumatic heart disease ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, mononuclear cell PMID:16741676|REF_RGD_ID:6893529 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:0060180 colitis ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:19117124|REF_RGD_ID:6893503 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:0060224 atrial fibrillation disease_progression ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:blood, leukocyte PMID:21195211|REF_RGD_ID:6893544 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:0070004 myeloid neoplasm ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:platelet, plasma membrane PMID:12479587|REF_RGD_ID:11040908 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:24280415|REF_RGD_ID:11041117 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:619555 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21216282|REF_RGD_ID:6893543 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:0111046 platelet-type bleeding disorder 10 ISO RGD:619554 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 10 PMID:10890433|PMID:10946357|PMID:11019968|PMID:11352982|PMID:11499670|PMID:11718687|PMID:11950861|PMID:12031598|PMID:15282206|PMID:15671915|PMID:16493488|PMID:18305138|PMID:19403559|PMID:20722468|PMID:22993001|PMID:23649248|PMID:23856131|PMID:23966019|PMID:24033266|PMID:24917573|PMID:24960640|PMID:25330908|PMID:25741868|PMID:25798958|PMID:25995486|PMID:26528880|PMID:28137300|PMID:28492532|PMID:28960434|PMID:33116287|PMID:33942430|PMID:7533783|PMID:7686693|PMID:8696942 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:0111046 platelet-type bleeding disorder 10 susceptibility ISO RGD:619554 D RGD:7240710 20240306 OMIM 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:619554 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16911630|PMID:16952981|PMID:25741868|PMID:32347024|PMID:32796572 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:10223 dermatomyositis ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:17572512|REF_RGD_ID:6893508 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:10325 silicosis treatment ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:24053919|REF_RGD_ID:11041147 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:10603 glucose intolerance ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14640889 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:10608 celiac disease ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:10652 Alzheimer's disease ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:16563568|REF_RGD_ID:6893531 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:10763 hypertension ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:18587397|REF_RGD_ID:2300254 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:10763 hypertension ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18587397 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:7529543|REF_RGD_ID:11041104 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:10923 sickle cell anemia ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:erythrocyte PMID:18322255|REF_RGD_ID:6893506 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:10923 sickle cell anemia treatment ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:20015873|REF_RGD_ID:11041114 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:11382 corneal neovascularization ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:17003426|REF_RGD_ID:6893528 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:11612 polycystic ovary syndrome ISO RGD:2301 D RGD:9068941 20200609 RGD protein:decreased expression:cardiac muscle cell PMID:25702158|REF_RGD_ID:11041149 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2301 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:19189074|REF_RGD_ID:2307222 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:12132 granulomatosis with polyangiitis ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:21412229|REF_RGD_ID:6893495 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:12365 malaria ISO RGD:619554 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10890433|PMID:18305138|PMID:19403559|PMID:25741868|PMID:28960434|PMID:33116287 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:12365 malaria susceptibility ISO RGD:619554 D RGD:7240710 20240306 OMIM 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:12554 hemolytic-uremic syndrome ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:16197457|REF_RGD_ID:6893534 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:12930 dilated cardiomyopathy ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10981864 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:14069 cerebral malaria ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:17367535|REF_RGD_ID:6893527 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:1826 epilepsy ISO RGD:619554 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:1936 atherosclerosis ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:19264766|PMID:20037584|REF_RGD_ID:6893502|REF_RGD_ID:6893559 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:1936 atherosclerosis treatment ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:26003171|REF_RGD_ID:11041151 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:2218 blood platelet disease ISO RGD:619554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Platelet disorder PMID:10946357|PMID:11019968|PMID:11718687|PMID:11950861|PMID:15282206|PMID:24033266|PMID:24917573|PMID:24960640|PMID:25741868|PMID:25798958|PMID:7533783|PMID:7686693 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:2224 essential thrombocythemia ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:platelet, cell surface PMID:8555064|REF_RGD_ID:11041099 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:2316 brain ischemia ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:20360550|REF_RGD_ID:6893498 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:2349 arteriosclerosis severity ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18723424|REF_RGD_ID:2307207 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:20855355|REF_RGD_ID:6893496 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:2527 nephrosis ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:19147991|REF_RGD_ID:2307223 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:289 endometriosis ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:macrophage PMID:19606481|REF_RGD_ID:6893501 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619554 D RGD:9068941 20210226 RGD DNA:SNPs: :rs1194182, rs10499859(human) PMID:28693442|REF_RGD_ID:41412192 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:3042 allergic contact dermatitis ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:3393 coronary artery disease ISO RGD:619554 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Premature coronary artery atherosclerosis PMID:25741868 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:3429 inclusion body myositis ISO RGD:619554 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:17572512|REF_RGD_ID:6893508 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:25216018|REF_RGD_ID:11041113 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:3526 cerebral infarction ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Hyperlipidemias PMID:22718544|REF_RGD_ID:6893487 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:3770 pulmonary fibrosis ISO RGD:2301 D RGD:9068941 20200609 RGD associated with Silicosis PMID:19439069|REF_RGD_ID:2307220 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:3770 pulmonary fibrosis severity ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Silicosis PMID:20056742|REF_RGD_ID:6893557 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:4448 macular degeneration ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:18288886|REF_RGD_ID:2307226 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:4448 macular degeneration ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:18288886|REF_RGD_ID:2307226 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:5082 liver cirrhosis ISO RGD:619554 D RGD:9068941 20200609 RGD associated with Hypertension, Portal PMID:22648712|REF_RGD_ID:6893541 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:5844 myocardial infarction severity ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:22128087|REF_RGD_ID:6893560 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:612 primary immunodeficiency disease ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15690042 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:630 genetic disease ISO RGD:619554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:8398 osteoarthritis susceptibility ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:8552 chronic myeloid leukemia ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:platelet, cell surface PMID:8555064|REF_RGD_ID:11041099 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:8997 polycythemia vera ISO RGD:619554 D RGD:9068941 20200609 RGD protein:increased expression:platelet, cell surface PMID:8555064|REF_RGD_ID:11041099 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9000064 Cardiac Arrhythmias severity ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:22128087|REF_RGD_ID:6893560 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:619555 D RGD:9068941 20230831 RGD PMID:28062499|REF_RGD_ID:329955458 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9000528 Coronary Disease ISO RGD:619554 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7 PMID:25741868|PMID:28960434|PMID:33116287 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9000528 Coronary Disease susceptibility ISO RGD:619554 D RGD:7240710 20240306 OMIM 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9000656 Penetrating Wounds ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:macrophage PMID:21803601|REF_RGD_ID:6893492 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9000808 Hypercholesterolemia ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:10946357|REF_RGD_ID:11040931 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9001415 Mycobacterium Infections ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:20950462|REF_RGD_ID:6893545 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9002165 Diabetic Nephropathies ISO RGD:2301 D RGD:9068941 20200609 RGD protein:increased expression:renal proximal tubule, endothelial cell PMID:15737001|REF_RGD_ID:2307215 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9002331 Knee Osteoarthritis ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:19342682|REF_RGD_ID:6893565 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:21765106|REF_RGD_ID:6893494 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9002554 Tachycardia ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:26579575|REF_RGD_ID:11041119 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9002676 Cerebral Hemorrhage ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:19064796|REF_RGD_ID:6893504 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9003936 Cardiomegaly treatment ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Obesity PMID:26036798|REF_RGD_ID:11040928 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9004484 Sepsis ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:22327076|REF_RGD_ID:6893490 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9004610 Acute Lung Injury ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Malaria PMID:18483551|REF_RGD_ID:6893505 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9004657 Weight Gain ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9005176 Retroperitoneal Fibrosis ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:16014033|REF_RGD_ID:6893538 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9005372 Inflammation ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Fatty Liver PMID:22470565|REF_RGD_ID:6893488 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2301 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs PMID:16838191|REF_RGD_ID:2307214 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:23691525|REF_RGD_ID:11041145 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9006013 Hematoma ISO RGD:619554 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:24808360|REF_RGD_ID:11040930 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9006013 Hematoma treatment ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:24808360|REF_RGD_ID:11040930 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9006646 Metabolic Syndrome ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:9916795|REF_RGD_ID:619666 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9006646 Metabolic Syndrome ISO RGD:619554 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18305138|REF_RGD_ID:2307208 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:24280415|REF_RGD_ID:11041117 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9007096 Stroke ISO RGD:619554 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9007102 Myocardial Ischemia ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9007692 Insulin Resistance ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:11175782|PMID:25477422|REF_RGD_ID:11041132|REF_RGD_ID:68930 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9007692 Insulin Resistance ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14640889 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9007692 Insulin Resistance ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:12923231|REF_RGD_ID:11040926 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9007692 Insulin Resistance ISO RGD:619555 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:15231693|REF_RGD_ID:2307217 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9008885 Staphylococcal Infections ISO RGD:619554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15690042 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9182 pemphigus ISO RGD:619554 D RGD:9068941 20200609 RGD PMID:21255096|REF_RGD_ID:5490304 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9351 diabetes mellitus ISO RGD:619555 D RGD:9068941 20200609 RGD protein:increased expression:macrophage PMID:17551591|REF_RGD_ID:2307209 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9352 type 2 diabetes mellitus ISO RGD:619554 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16911630|PMID:16952981|PMID:25741868|PMID:32347024|PMID:32796572 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:619554 D RGD:9068941 20200609 RGD DNA:SNP:promoter, rs1527479 (human) PMID:16911630|REF_RGD_ID:2307213 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9452 steatotic liver disease ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:19788606|REF_RGD_ID:6893500 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9744 type 1 diabetes mellitus ISO RGD:619555 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:7544802|REF_RGD_ID:2307219 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9970 obesity ISO RGD:2301 D RGD:9068941 20200609 RGD PMID:25477422|REF_RGD_ID:11041132 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9970 obesity ISO RGD:2301 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, gastrocnemius PMID:20435456|REF_RGD_ID:6893497 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9970 obesity ISO RGD:2301 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle, T-tubule PMID:23743348|REF_RGD_ID:11041118 8847035 Cd36 CD36 molecule (CD36 blood group) gene DOID:9970 obesity ISO RGD:619555 D RGD:9068941 20200609 RGD PMID:22615812|REF_RGD_ID:6893542 8847062 Tex22 testis expressed 22 gene DOID:630 genetic disease ISO RGD:5132216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847074 Cplx2 complexin 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:732283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8847074 Cplx2 complexin 2 gene DOID:14748 Sotos syndrome ISO RGD:732283 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8847074 Cplx2 complexin 2 gene DOID:2468 psychotic disorder ISO RGD:732283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8847074 Cplx2 complexin 2 gene DOID:3312 bipolar disorder ISO RGD:732283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8847074 Cplx2 complexin 2 gene DOID:5419 schizophrenia ISO RGD:732283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11483314|PMID:14708030 8847074 Cplx2 complexin 2 gene DOID:5419 schizophrenia ISO RGD:732284 D RGD:9068941 20220825 MouseDO OMIM:181500 8847074 Cplx2 complexin 2 gene DOID:630 genetic disease ISO RGD:732283 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847089 Fxyd4 FXYD domain containing ion transport regulator 4 gene DOID:630 genetic disease ISO RGD:735874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847101 Thap9 THAP domain containing 9 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1349156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8847101 Thap9 THAP domain containing 9 gene DOID:630 genetic disease ISO RGD:1349156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0050770 polycystic liver disease ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0070480 schwannomatosis 1 ISO RGD:731858 D RGD:8554872 20231024 ClinVar ClinVar Annotator: match by term: Schwannomatosis 1 PMID:25741868|PMID:7798645|PMID:9399891 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111252 vestibular schwannomatosis ISO RGD:731858 D RGD:7240710 20180130 OMIM 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111252 vestibular schwannomatosis ISO RGD:731858 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:10691417|PMID:10712203|PMID:10777666|PMID:10970839|PMID:11085592|PMID:11129337|PMID:11448944|PMID:11535133|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11809806|PMID:12118253|PMID:12217955|PMID:12566519|PMID:12695331|PMID:12807969|PMID:1479598|PMID:15598747|PMID:15635074|PMID:15645494|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16509493|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17330926|PMID:17576681|PMID:17607601|PMID:18033041|PMID:18173316|PMID:18554169|PMID:18670066|PMID:18766994|PMID:19234911|PMID:19249154|PMID:19451225|PMID:19924781|PMID:19968670|PMID:20553997|PMID:20831745|PMID:21294614|PMID:21563229|PMID:21671232|PMID:21906157|PMID:22012890|PMID:22081132|PMID:22295085|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:23348505|PMID:24030433|PMID:24033266|PMID:24309211|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25326635|PMID:2543905|PMID:25525159|PMID:25567352|PMID:25640679|PMID:25741868|PMID:25798586|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26407091|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:28737257|PMID:28873162|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29685074|PMID:29761250|PMID:29781505|PMID:30306255|PMID:30594554|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31370276|PMID:32191290|PMID:32724039|PMID:33058421|PMID:33067351|PMID:33606809|PMID:35264596|PMID:4000972|PMID:7535084|PMID:7666400|PMID:7711726|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8230593|PMID:8379998|PMID:8566958|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8757035|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9391890|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9817921|PMID:9817927|PMID:9884492|PMID:9931334 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:0111253 neurofibromatosis 1 ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:10754 otitis media ISO RGD:731859 D RGD:9068941 20220825 MouseDO OMIM:166760 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:12270 coloboma ISO RGD:731859 D RGD:9068941 20220825 MouseDO OMIM:120200 | OMIM:120300 | OMIM:216820 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:12689 acoustic neuroma ISO RGD:731858 D RGD:9068941 20200609 RGD protein:decreased expression:myelinated nerve: PMID:20600642|REF_RGD_ID:8661792 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1612 breast cancer ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1790 malignant mesothelioma ISO RGD:10322,RGD:731792 D RGD:9068941 20211224 RGD PMID:32271879|REF_RGD_ID:150530636 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1790 malignant mesothelioma ISO RGD:731858 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23435014|PMID:26463840|PMID:26678224|PMID:26928227|PMID:29112861 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1790 malignant mesothelioma disease_progression ISO RGD:731859 D RGD:9068941 20211224 RGD PMID:16166281|REF_RGD_ID:150530640 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:1826 epilepsy ISO RGD:3169 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus PMID:16468657|REF_RGD_ID:2315002 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3070 high grade glioma ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3192 neurilemmoma ISO RGD:731858 D RGD:9068941 20211217 RGD DNA:loss of heterozygosity PMID:7669741|REF_RGD_ID:150530508 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3565 meningioma ISO RGD:731858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meningioma PMID:16983642|PMID:18033041|PMID:21294614|PMID:22711605|PMID:23196945|PMID:25741868|PMID:26073919|PMID:28492532|PMID:29781505|PMID:31273341|PMID:33067351|PMID:7868131|PMID:8162072|PMID:8379998|PMID:8882871|PMID:9643284|PMID:9718334|PMID:9884492 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:3908 lung non-small cell carcinoma ISO RGD:731858 D RGD:9068941 20211224 RGD PMID:21743150|REF_RGD_ID:150530639 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4235 spindle cell sarcoma ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spindle cell sarcoma PMID:28890946 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:731858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:731859 D RGD:9068941 20200609 RGD PMID:19487675|REF_RGD_ID:2315000 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:731859 D RGD:9068941 20220825 MouseDO OMIM:300854 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4586 familial meningioma ISO RGD:731858 D RGD:7240710 20230505 OMIM 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:4586 familial meningioma ISO RGD:731858 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:11535133|PMID:16983642|PMID:17576681|PMID:20553997|PMID:22081132|PMID:24309211|PMID:24595234|PMID:25741868|PMID:26045165|PMID:26332594|PMID:27930734|PMID:28492532|PMID:29316957|PMID:29409008|PMID:29641532|PMID:30306255|PMID:33058421|PMID:35264596|PMID:7759081|PMID:8012353|PMID:9466988|PMID:9536098|PMID:9931334 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:5648 choroid plexus carcinoma ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:26822237 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:630 genetic disease ISO RGD:731858 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1484939|PMID:15684865|PMID:28492532|PMID:7535084 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:684 hepatocellular carcinoma ISO RGD:731858 D RGD:9068941 20211217 RGD PMID:27289045|REF_RGD_ID:150530504 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:684 hepatocellular carcinoma ISO RGD:731858 D RGD:9068941 20211217 RGD DNA, protein:SNP, increased expression:intron, liver PMID:29130106|REF_RGD_ID:150530489 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731858 D RGD:9068941 20211217 RGD protein:decreased expression:liver PMID:26443326|REF_RGD_ID:11076529 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:7474 malignant pleural mesothelioma ISO RGD:731858 D RGD:9068941 20211224 RGD PMID:26928227|REF_RGD_ID:150429647 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:731858 D RGD:9068941 20211224 RGD PMID:27378628|REF_RGD_ID:150530638 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:731858 D RGD:9068941 20211224 RGD DNA:loss of heterozygosity PMID:26493618|REF_RGD_ID:11553131 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9000315 Pleural Neoplasms ISO RGD:731858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23435014 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:731858 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9003566 Mesothelioma ISO RGD:731858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12136076|PMID:12168054|PMID:12802287|PMID:16166281|PMID:16319530|PMID:18835652 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731858 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:20553997|PMID:20831745|PMID:21294614|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32716568|PMID:33067351|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:20553997|PMID:20831745|PMID:21294614|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32716568|PMID:33067351|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731858 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11809806|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17330926|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:19249154|PMID:20553997|PMID:20831745|PMID:21294614|PMID:21563229|PMID:21671232|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32716568|PMID:32724039|PMID:33067351|PMID:33606809|PMID:7535084|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731858 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11809806|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17330926|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:19249154|PMID:20553997|PMID:20831745|PMID:21294614|PMID:21563229|PMID:21671232|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32191290|PMID:32716568|PMID:32724039|PMID:33058421|PMID:33067351|PMID:33606809|PMID:35264596|PMID:7535084|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9008952 Breast Cancer, Familial ISO RGD:731858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9009121 lung metastasis ISO RGD:731858 D RGD:9068941 20211217 RGD associated with hepatocellular carcinoma PMID:26443326|REF_RGD_ID:11076529 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731858 D RGD:9068941 20211217 RGD DNA:loss of heterozygosity PMID:11123422|REF_RGD_ID:150530507 8847131 Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor gene DOID:9256 colorectal cancer ISO RGD:731858 D RGD:9068941 20211217 RGD DNA:loss of heterozygosity PMID:24323642|REF_RGD_ID:150530506 8847161 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8847161 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:0080600 COVID-19 ISO RGD:1354021 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8847161 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1354021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8847161 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:2986 IgA glomerulonephritis ISO RGD:1354021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8847161 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:630 genetic disease ISO RGD:1354021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847161 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1354021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8847161 Vsig4 V-set and immunoglobulin domain containing 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1354021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 8847179 Ubtf upstream binding transcription factor gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:734082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 8847179 Ubtf upstream binding transcription factor gene DOID:0070474 childhood-onset neurodegeneration with brain atrophy ISO RGD:734082 D RGD:7240710 20190315 OMIM 8847179 Ubtf upstream binding transcription factor gene DOID:0070474 childhood-onset neurodegeneration with brain atrophy ISO RGD:734082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | ClinVar Annotator: match by term: UBTF-Related Disorder | ClinVar Annotator: match by term: UBTF-related condition PMID:24033266|PMID:25741868|PMID:28191890|PMID:28777933|PMID:29300972|PMID:30517966|PMID:31931739|PMID:33026538 8847179 Ubtf upstream binding transcription factor gene DOID:630 genetic disease ISO RGD:734082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28191890|PMID:28777933|PMID:29300972|PMID:30517966|PMID:31931739|PMID:33026538 8847179 Ubtf upstream binding transcription factor gene DOID:9003936 Cardiomegaly ISO RGD:737074 D RGD:9068941 20200609 RGD PMID:12885411|REF_RGD_ID:1580791 8847202 Lta lymphotoxin alpha gene DOID:0050127 sinusitis susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:11037831|REF_RGD_ID:4143260 8847202 Lta lymphotoxin alpha gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1345394 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8847202 Lta lymphotoxin alpha gene DOID:0050697 chorioamnionitis severity ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:SNP:promoter:250G>A (human) PMID:15128916|REF_RGD_ID:12904055 8847202 Lta lymphotoxin alpha gene DOID:0080750 erythema nodosum ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Sarcoidosis;DNA:polymorphism:intron PMID:19225544|REF_RGD_ID:8548773 8847202 Lta lymphotoxin alpha gene DOID:1024 leprosy ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to PMID:15052269|PMID:17353895 8847202 Lta lymphotoxin alpha gene DOID:1024 leprosy susceptibility ISO RGD:1345394 D RGD:7240710 20190502 OMIM 8847202 Lta lymphotoxin alpha gene DOID:10763 hypertension no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:15533732|REF_RGD_ID:1580415 8847202 Lta lymphotoxin alpha gene DOID:11372 megacolon ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8847202 Lta lymphotoxin alpha gene DOID:11394 adult respiratory distress syndrome ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorhpism:blood: PMID:16135717|REF_RGD_ID:4143247 8847202 Lta lymphotoxin alpha gene DOID:1205 allergic disease ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype PMID:11591192|REF_RGD_ID:8548785 8847202 Lta lymphotoxin alpha gene DOID:1205 allergic disease ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Nasal Polyps PMID:22545387|REF_RGD_ID:8548802 8847202 Lta lymphotoxin alpha gene DOID:12361 Graves' disease ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:1346144|REF_RGD_ID:8548778 8847202 Lta lymphotoxin alpha gene DOID:12361 Graves' disease no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7928443|REF_RGD_ID:8548790 8847202 Lta lymphotoxin alpha gene DOID:12894 Sjogren's syndrome ISO RGD:1345394 D RGD:9068941 20200609 RGD protein:increased expression:saliva, serum PMID:20952683|REF_RGD_ID:8548776 8847202 Lta lymphotoxin alpha gene DOID:12894 Sjogren's syndrome ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:20952683|REF_RGD_ID:8548776 8847202 Lta lymphotoxin alpha gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:22294627|REF_RGD_ID:8548787 8847202 Lta lymphotoxin alpha gene DOID:12894 Sjogren's syndrome susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron: (rs909253) (human) PMID:22294627|REF_RGD_ID:8548787 8847202 Lta lymphotoxin alpha gene DOID:13258 typhoid fever susceptibility ISO RGD:1345394 D RGD:9068941 20200716 RGD DNA:SNP:: PMID:11120931|REF_RGD_ID:36049756 8847202 Lta lymphotoxin alpha gene DOID:13406 pulmonary sarcoidosis susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron: PMID:15713215|REF_RGD_ID:4143248 8847202 Lta lymphotoxin alpha gene DOID:13413 hepatic encephalopathy ISO RGD:1345394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9696492 8847202 Lta lymphotoxin alpha gene DOID:1380 endometrial cancer susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :252A>G, 804C>A (human) PMID:17045328|REF_RGD_ID:2313259 8847202 Lta lymphotoxin alpha gene DOID:14069 cerebral malaria ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:12021316|REF_RGD_ID:10449455 8847202 Lta lymphotoxin alpha gene DOID:1485 cystic fibrosis severity ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :252A>G (human) PMID:21993476|REF_RGD_ID:6767553 8847202 Lta lymphotoxin alpha gene DOID:1612 breast cancer susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:11841482|REF_RGD_ID:8548791 8847202 Lta lymphotoxin alpha gene DOID:1612 breast cancer susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :252A>G (human) PMID:18409070|REF_RGD_ID:8548786 8847202 Lta lymphotoxin alpha gene DOID:1679 cystitis ISO RGD:3020 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:11948286|REF_RGD_ID:6907118 8847202 Lta lymphotoxin alpha gene DOID:1790 malignant mesothelioma ISO RGD:1345394 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8847202 Lta lymphotoxin alpha gene DOID:1909 melanoma disease_progression ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:9182821|REF_RGD_ID:8548801 8847202 Lta lymphotoxin alpha gene DOID:2018 hyperinsulinism ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Coronary Arteriosclerosis PMID:9726033|REF_RGD_ID:1625034 8847202 Lta lymphotoxin alpha gene DOID:2349 arteriosclerosis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:11809756|REF_RGD_ID:1581936 8847202 Lta lymphotoxin alpha gene DOID:2773 contact dermatitis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:11390430|REF_RGD_ID:8548819 8847202 Lta lymphotoxin alpha gene DOID:2841 asthma ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:17536219|REF_RGD_ID:4143371 8847202 Lta lymphotoxin alpha gene DOID:2841 asthma no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:12530118|REF_RGD_ID:4143254 8847202 Lta lymphotoxin alpha gene DOID:2841 asthma susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:18947013|REF_RGD_ID:4143370 8847202 Lta lymphotoxin alpha gene DOID:2841 asthma susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter PMID:15969671|REF_RGD_ID:4143373 8847202 Lta lymphotoxin alpha gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:252G>A (human) PMID:20180006|REF_RGD_ID:4143234 8847202 Lta lymphotoxin alpha gene DOID:3070 high grade glioma treatment ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:1883913|REF_RGD_ID:1625042 8847202 Lta lymphotoxin alpha gene DOID:3393 coronary artery disease ISO RGD:1345394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15266304 8847202 Lta lymphotoxin alpha gene DOID:3393 coronary artery disease ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:15973460|REF_RGD_ID:1580414 8847202 Lta lymphotoxin alpha gene DOID:3407 carotid artery disease susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :252A>G (human) PMID:17065682|REF_RGD_ID:1581937 8847202 Lta lymphotoxin alpha gene DOID:3526 cerebral infarction ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:14593215|REF_RGD_ID:1580416 8847202 Lta lymphotoxin alpha gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 8847202 Lta lymphotoxin alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345394 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9669810|REF_RGD_ID:4143264 8847202 Lta lymphotoxin alpha gene DOID:418 systemic scleroderma susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron:252A>G (human) PMID:10600011|REF_RGD_ID:8548796 8847202 Lta lymphotoxin alpha gene DOID:4398 pustulosis of palm and sole ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1 (human) PMID:12691703|REF_RGD_ID:8548804 8847202 Lta lymphotoxin alpha gene DOID:5844 myocardial infarction ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12426569|PMID:12746914|PMID:14681301|PMID:15266304 8847202 Lta lymphotoxin alpha gene DOID:5844 myocardial infarction no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:15175864|REF_RGD_ID:1581940 8847202 Lta lymphotoxin alpha gene DOID:5844 myocardial infarction severity ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:exon:804C>A (p.T26N) (human) PMID:23398946|REF_RGD_ID:8548841 8847202 Lta lymphotoxin alpha gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345394 D RGD:7240710 20190502 OMIM 8847202 Lta lymphotoxin alpha gene DOID:630 genetic disease ISO RGD:1345394 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847202 Lta lymphotoxin alpha gene DOID:8505 dermatitis herpetiformis ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:7914110|REF_RGD_ID:8548777 8847202 Lta lymphotoxin alpha gene DOID:8893 psoriasis susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1 (human) PMID:12709814|REF_RGD_ID:8548775 8847202 Lta lymphotoxin alpha gene DOID:8947 diabetic retinopathy no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism:intron, exon:252A>G, 804C>A (human) PMID:16979413|REF_RGD_ID:8548772 8847202 Lta lymphotoxin alpha gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: PMID:11399938|REF_RGD_ID:8548797 8847202 Lta lymphotoxin alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:18575614|REF_RGD_ID:2313255 8847202 Lta lymphotoxin alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3020 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:9184655|REF_RGD_ID:4143220 8847202 Lta lymphotoxin alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3020 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:7593556|REF_RGD_ID:1625038 8847202 Lta lymphotoxin alpha gene DOID:9003817 Sudden Hearing Loss ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:252A>G (human) PMID:19833626|REF_RGD_ID:8548795 8847202 Lta lymphotoxin alpha gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:11145686|REF_RGD_ID:8548806 8847202 Lta lymphotoxin alpha gene DOID:9004283 Transplant Rejection ISO RGD:3020 D RGD:9068941 20200609 RGD PMID:8356596|REF_RGD_ID:8548835 8847202 Lta lymphotoxin alpha gene DOID:9004283 Transplant Rejection treatment ISO RGD:3020 D RGD:9068941 20200609 RGD PMID:2338821|REF_RGD_ID:8548836 8847202 Lta lymphotoxin alpha gene DOID:9004484 Sepsis ISO RGD:1345394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22977509 8847202 Lta lymphotoxin alpha gene DOID:9006599 Hypertriglyceridemia no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9245742|REF_RGD_ID:1625035 8847202 Lta lymphotoxin alpha gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:7783649|REF_RGD_ID:1625036 8847202 Lta lymphotoxin alpha gene DOID:9007346 Cachexia susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:polymorphism:intron:252G>A (human) PMID:18953879|REF_RGD_ID:8548798 8847202 Lta lymphotoxin alpha gene DOID:9007692 Insulin Resistance no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9245742|REF_RGD_ID:1625035 8847202 Lta lymphotoxin alpha gene DOID:9008 psoriatic arthritis ISO RGD:1345394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to PMID:12426569|PMID:12746914|PMID:14681301 8847202 Lta lymphotoxin alpha gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1345394 D RGD:7240710 20190502 OMIM 8847202 Lta lymphotoxin alpha gene DOID:9008 psoriatic arthritis treatment ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:22480318|REF_RGD_ID:8548821 8847202 Lta lymphotoxin alpha gene DOID:9111 cutaneous leishmaniasis no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP:intron:252A>G (human) PMID:16950634|REF_RGD_ID:8548800 8847202 Lta lymphotoxin alpha gene DOID:9146 visceral leishmaniasis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:15579454|REF_RGD_ID:8548789 8847202 Lta lymphotoxin alpha gene DOID:9146 visceral leishmaniasis severity ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:12438370|REF_RGD_ID:8548784 8847202 Lta lymphotoxin alpha gene DOID:9155 mucocutaneous leishmaniasis ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:7595196|REF_RGD_ID:8548799 8847202 Lta lymphotoxin alpha gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T60N (human) PMID:16132956|REF_RGD_ID:2313261 8847202 Lta lymphotoxin alpha gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T60N (human) PMID:15729581|REF_RGD_ID:1625033 8847202 Lta lymphotoxin alpha gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:CDS:rs2229094 (human) PMID:20663564|REF_RGD_ID:8548782 8847202 Lta lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:11141334|REF_RGD_ID:2313263 8847202 Lta lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :252A>G (human) PMID:12622777|REF_RGD_ID:2313262 8847202 Lta lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1345394 D RGD:9068941 20200609 RGD protein:decreased expression:mononuclear cell PMID:9342542|REF_RGD_ID:2313264 8847202 Lta lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:19120272|REF_RGD_ID:2313253 8847202 Lta lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1345394 D RGD:9068941 20200609 RGD DNA:polymorphism: :249A>G (human) PMID:17989340|REF_RGD_ID:2313257 8847202 Lta lymphotoxin alpha gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1345394 D RGD:9068941 20200609 RGD PMID:8242903|REF_RGD_ID:8548842 8847202 Lta lymphotoxin alpha gene DOID:9784 trichinosis ISO RGD:733657 D RGD:9068941 20200609 RGD PMID:19564380|REF_RGD_ID:8548805 8847213 Kcnk13 potassium two pore domain channel subfamily K member 13 gene DOID:0080054 achondrogenesis type IA ISO RGD:68985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8847213 Kcnk13 potassium two pore domain channel subfamily K member 13 gene DOID:0080600 COVID-19 ISO RGD:68985 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8847213 Kcnk13 potassium two pore domain channel subfamily K member 13 gene DOID:630 genetic disease ISO RGD:68985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847220 Tmc4 transmembrane channel like 4 gene DOID:630 genetic disease ISO RGD:1312473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847239 Zmynd12 zinc finger MYND-type containing 12 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8847239 Zmynd12 zinc finger MYND-type containing 12 gene DOID:630 genetic disease ISO RGD:1316209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847257 Strip1 striatin interacting protein 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1352338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8847257 Strip1 striatin interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1352338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8847257 Strip1 striatin interacting protein 1 gene DOID:630 genetic disease ISO RGD:1352338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847297 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:0060857 septooptic dysplasia ISO RGD:1607055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 8847297 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:0111111 maturity-onset diabetes of the young type 14 ISO RGD:1607055 D RGD:7240710 20180130 OMIM 8847297 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:0111111 maturity-onset diabetes of the young type 14 ISO RGD:1607055 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14 PMID:25741868|PMID:26073777|PMID:28492532 8847297 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:630 genetic disease ISO RGD:1607055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8847297 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8847297 Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1607055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8847320 Vmo1 vitelline membrane outer layer 1 homolog gene DOID:4450 renal cell carcinoma ISO RGD:1605251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8847320 Vmo1 vitelline membrane outer layer 1 homolog gene DOID:630 genetic disease ISO RGD:1605251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847332 Slc26a9 solute carrier family 26 member 9 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8847332 Slc26a9 solute carrier family 26 member 9 gene DOID:12849 autistic disorder ISO RGD:1321344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8847332 Slc26a9 solute carrier family 26 member 9 gene DOID:1485 cystic fibrosis ISO RGD:1321344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 8847332 Slc26a9 solute carrier family 26 member 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1321344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8847332 Slc26a9 solute carrier family 26 member 9 gene DOID:630 genetic disease ISO RGD:1321344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847332 Slc26a9 solute carrier family 26 member 9 gene DOID:8437 intestinal obstruction ISO RGD:1321344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 8847332 Slc26a9 solute carrier family 26 member 9 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321344 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8847332 Slc26a9 solute carrier family 26 member 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8847357 Eef2k eukaryotic elongation factor 2 kinase gene DOID:0060399 chromosome 16p12.1 deletion syndrome ISO RGD:1351780 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb PMID:25741868 8847357 Eef2k eukaryotic elongation factor 2 kinase gene DOID:10652 Alzheimer's disease ISO RGD:1351780 D RGD:9068941 20200609 RGD PMID:16098202|REF_RGD_ID:10401651 8847357 Eef2k eukaryotic elongation factor 2 kinase gene DOID:12849 autistic disorder ISO RGD:1351780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8847357 Eef2k eukaryotic elongation factor 2 kinase gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1351780 D RGD:9068941 20220804 RGD Human cells in mouse model PMID:30522114|REF_RGD_ID:153298964 8847357 Eef2k eukaryotic elongation factor 2 kinase gene DOID:5419 schizophrenia ISO RGD:1351780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8847357 Eef2k eukaryotic elongation factor 2 kinase gene DOID:630 genetic disease ISO RGD:1351780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847392 Arhgef4 Rho guanine nucleotide exchange factor 4 gene DOID:5419 schizophrenia ISO RGD:1312054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8847392 Arhgef4 Rho guanine nucleotide exchange factor 4 gene DOID:630 genetic disease ISO RGD:1312054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847425 Tbp TATA-box binding protein gene DOID:0050847 sleep apnea ISO RGD:68980 D RGD:9068941 20200609 RGD associated with Sudden Infant Death; protein:altered expression:brainstem (human) PMID:14693397|REF_RGD_ID:5684350 8847425 Tbp TATA-box binding protein gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:68980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 PMID:25741868 8847425 Tbp TATA-box binding protein gene DOID:0050967 spinocerebellar ataxia type 17 susceptibility ISO RGD:68980 D RGD:7240710 20240313 OMIM 8847425 Tbp TATA-box binding protein gene DOID:0060892 late onset Parkinson's disease ISO RGD:68980 D RGD:9068941 20240314 CTD CTD Direct Evidence: marker/mechanism 8847425 Tbp TATA-box binding protein gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:68980 D RGD:7240710 20240313 OMIM 8847425 Tbp TATA-box binding protein gene DOID:10652 Alzheimer's disease ISO RGD:68980 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, entorhinal cortex (human) PMID:15193429|REF_RGD_ID:5684338 8847425 Tbp TATA-box binding protein gene DOID:12858 Huntington's disease severity ISO RGD:68980 D RGD:9068941 20200609 RGD protein:increased expression:middle frontal gyrus (human) PMID:12531510|REF_RGD_ID:5684339 8847425 Tbp TATA-box binding protein gene DOID:13938 amenorrhea ISO RGD:68980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8847425 Tbp TATA-box binding protein gene DOID:5419 schizophrenia ISO RGD:68980 D RGD:9068941 20200609 RGD DNA:repeat:cds:g.172(CAG/CAA)36 (human) PMID:16054804|REF_RGD_ID:5684344 8847425 Tbp TATA-box binding protein gene DOID:630 genetic disease ISO RGD:68980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847425 Tbp TATA-box binding protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:67398 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, astrocyte, microglial cell PMID:24710803|REF_RGD_ID:9681729 8847425 Tbp TATA-box binding protein gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68981 D RGD:9068941 20200609 RGD PMID:21705419|REF_RGD_ID:5684014 8847425 Tbp TATA-box binding protein gene DOID:9002121 Spinocerebellar Ataxias onset ISO RGD:68980 D RGD:9068941 20200609 RGD DNA:repeat:cds:g.172(CAG/CAA)47-55 (human) PMID:11448935|REF_RGD_ID:5684015 8847425 Tbp TATA-box binding protein gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:68980 D RGD:9068941 20200609 RGD DNA:repeat:cds:g.172(CAG/CAA)38 (human) PMID:15850778|REF_RGD_ID:5684349 8847425 Tbp TATA-box binding protein gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68980 D RGD:9068941 20200609 RGD DNA:repeat:cds:g.172(CAG/CAA)38 (human) PMID:15381080|REF_RGD_ID:5684348 8847449 Fam53a family with sequence similarity 53 member A gene DOID:1856 cherubism ISO RGD:1604984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8847449 Fam53a family with sequence similarity 53 member A gene DOID:630 genetic disease ISO RGD:1604984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847465 Stk16 serine/threonine kinase 16 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8847465 Stk16 serine/threonine kinase 16 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8847465 Stk16 serine/threonine kinase 16 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8847465 Stk16 serine/threonine kinase 16 gene DOID:1148 polydactyly ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8847465 Stk16 serine/threonine kinase 16 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8847465 Stk16 serine/threonine kinase 16 gene DOID:630 genetic disease ISO RGD:1342506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847465 Stk16 serine/threonine kinase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8847509 Trim37 tripartite motif containing 37 gene DOID:0050436 mulibrey nanism ISO RGD:1318066 D RGD:7240710 20180130 OMIM 8847509 Trim37 tripartite motif containing 37 gene DOID:0050436 mulibrey nanism ISO RGD:1318066 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome | ClinVar Annotator: match by term: Perheentupa syndrome PMID:10888877|PMID:12754710|PMID:15108285|PMID:15885686|PMID:16199547|PMID:17100991|PMID:17551331|PMID:21681106|PMID:25741868|PMID:28492532|PMID:33042106 8847509 Trim37 tripartite motif containing 37 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1318066 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8847509 Trim37 tripartite motif containing 37 gene DOID:630 genetic disease ISO RGD:1318066 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8847509 Trim37 tripartite motif containing 37 gene DOID:9005369 Hepatomegaly ISO RGD:1318066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 8847509 Trim37 tripartite motif containing 37 gene DOID:9007661 Dwarfism ISO RGD:1318066 D RGD:9068941 20200609 RGD Mulibrey Nanism, OMIM:253250 PMID:10888877|REF_RGD_ID:1599667 8847509 Trim37 tripartite motif containing 37 gene DOID:9008267 Fibrous Dysplasia of Bone ISO RGD:1318066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 8847509 Trim37 tripartite motif containing 37 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1318066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14757854 8847560 Tex47 testis expressed 47 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8847566 Tk2 thymidine kinase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1319538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8847566 Tk2 thymidine kinase 2 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1319538 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:12655576|PMID:12682338|PMID:15907288|PMID:16504786|PMID:18819985|PMID:19154348|PMID:19265691|PMID:21937588|PMID:24033266|PMID:25326635|PMID:25446393|PMID:25741868|PMID:25948719|PMID:26224072|PMID:27839525|PMID:28492532|PMID:29602790|PMID:29735374|PMID:30831263|PMID:31060578 8847566 Tk2 thymidine kinase 2 gene DOID:0080120 mitochondrial DNA depletion syndrome 2 ISO RGD:1319538 D RGD:7240710 20180130 OMIM 8847566 Tk2 thymidine kinase 2 gene DOID:0080120 mitochondrial DNA depletion syndrome 2 ISO RGD:1319538 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 2 PMID:25741868|PMID:28492532|PMID:29783828|PMID:33013660|PMID:35289132 8847566 Tk2 thymidine kinase 2 gene DOID:0080600 COVID-19 ISO RGD:1319538 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8847566 Tk2 thymidine kinase 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1319538 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8847566 Tk2 thymidine kinase 2 gene DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1319538 D RGD:7240710 20190315 OMIM 8847566 Tk2 thymidine kinase 2 gene DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1319538 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 PMID:12655576|PMID:12682338|PMID:15907288|PMID:18819985|PMID:19265691|PMID:21937588|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29602790 8847566 Tk2 thymidine kinase 2 gene DOID:423 myopathy ISO RGD:1319538 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myopathy PMID:22345218|PMID:26224072|PMID:31125140 8847566 Tk2 thymidine kinase 2 gene DOID:630 genetic disease ISO RGD:1319538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8847566 Tk2 thymidine kinase 2 gene DOID:699 mitochondrial myopathy ISO RGD:1319538 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:28492532|PMID:29783828|PMID:33013660|PMID:35289132 8847566 Tk2 thymidine kinase 2 gene DOID:9002774 Mitochondrial DNA Depletion Syndrome, Myopathic Form ISO RGD:1319538 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, myopathic form PMID:11687801|PMID:12391347|PMID:12493767|PMID:12655576|PMID:12682338|PMID:12873860|PMID:15639197|PMID:15907288|PMID:16504786|PMID:16908738|PMID:1734306|PMID:17576681|PMID:18508266|PMID:18819985|PMID:19154348|PMID:19265691|PMID:19736010|PMID:20083405|PMID:20421844|PMID:21937588|PMID:22345218|PMID:23303857|PMID:23932787|PMID:23963299|PMID:24033266|PMID:24484525|PMID:25326635|PMID:25446393|PMID:25741868|PMID:25948719|PMID:26224072|PMID:26467025|PMID:26925861|PMID:27660820|PMID:27839525|PMID:28492532|PMID:28812460|PMID:29602790|PMID:29735374|PMID:29783828|PMID:31060578|PMID:31125140|PMID:33013660|PMID:33486010|PMID:35289132|PMID:9536098 8847591 Cblc Cbl proto-oncogene C gene DOID:630 genetic disease ISO RGD:1316966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847609 Dact1 dishevelled binding antagonist of beta catenin 1 gene DOID:0050887 Townes-Brocks syndrome ISO RGD:1348421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8847609 Dact1 dishevelled binding antagonist of beta catenin 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1348421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459 8847609 Dact1 dishevelled binding antagonist of beta catenin 1 gene DOID:630 genetic disease ISO RGD:1348421 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:36066768 8847609 Dact1 dishevelled binding antagonist of beta catenin 1 gene DOID:9004070 Townes-Brocks Syndrome 2 ISO RGD:1348421 D RGD:7240710 20190315 OMIM 8847609 Dact1 dishevelled binding antagonist of beta catenin 1 gene DOID:9004070 Townes-Brocks Syndrome 2 ISO RGD:1348421 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Townes-Brocks syndrome 2 PMID:25741868|PMID:28054444|PMID:28492532|PMID:36066768 8847609 Dact1 dishevelled binding antagonist of beta catenin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8847617 Cfap99 cilia and flagella associated protein 99 gene DOID:630 genetic disease ISO RGD:8695362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847647 Bclaf1 BCL2 associated transcription factor 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1320189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 8847647 Bclaf1 BCL2 associated transcription factor 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1320189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 8847647 Bclaf1 BCL2 associated transcription factor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1320189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8847647 Bclaf1 BCL2 associated transcription factor 1 gene DOID:630 genetic disease ISO RGD:1320189 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 8847647 Bclaf1 BCL2 associated transcription factor 1 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1320189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 8847647 Bclaf1 BCL2 associated transcription factor 1 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1320189 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8847647 Bclaf1 BCL2 associated transcription factor 1 gene DOID:9007098 Pulmonary Atresia ISO RGD:1320189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 8847679 Cdk19 cyclin dependent kinase 19 gene DOID:0112221 developmental and epileptic encephalopathy 87 ISO RGD:1343762 D RGD:7240710 20200701 OMIM 8847679 Cdk19 cyclin dependent kinase 19 gene DOID:0112221 developmental and epileptic encephalopathy 87 ISO RGD:1343762 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 PMID:25741868|PMID:32330417|PMID:33134521|PMID:33495529|PMID:33568421 8847679 Cdk19 cyclin dependent kinase 19 gene DOID:10907 microcephaly ISO RGD:1343762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8847679 Cdk19 cyclin dependent kinase 19 gene DOID:630 genetic disease ISO RGD:1343762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32330417 8847679 Cdk19 cyclin dependent kinase 19 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1305435 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:18008145|REF_RGD_ID:2316019 8847679 Cdk19 cyclin dependent kinase 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8847705 Cimap1c ciliary microtubule associated protein 1C gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 8847705 Cimap1c ciliary microtubule associated protein 1C gene DOID:1826 epilepsy ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8847705 Cimap1c ciliary microtubule associated protein 1C gene DOID:2717 Bloom syndrome ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8847705 Cimap1c ciliary microtubule associated protein 1C gene DOID:5419 schizophrenia ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8847705 Cimap1c ciliary microtubule associated protein 1C gene DOID:630 genetic disease ISO RGD:1348133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847705 Cimap1c ciliary microtubule associated protein 1C gene DOID:9256 colorectal cancer ISO RGD:1348133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8847718 Fcn1 ficolin 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8847718 Fcn1 ficolin 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8847718 Fcn1 ficolin 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1351597 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8847718 Fcn1 ficolin 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8847718 Fcn1 ficolin 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8847718 Fcn1 ficolin 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8847718 Fcn1 ficolin 1 gene DOID:3652 Leigh disease ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8847718 Fcn1 ficolin 1 gene DOID:630 genetic disease ISO RGD:1351597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847718 Fcn1 ficolin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351597 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8847718 Fcn1 ficolin 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1351597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 8847718 Fcn1 ficolin 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1351597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 8847745 Snupn snurportin 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 8847745 Snupn snurportin 1 gene DOID:1826 epilepsy ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8847745 Snupn snurportin 1 gene DOID:2717 Bloom syndrome ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8847745 Snupn snurportin 1 gene DOID:5419 schizophrenia ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8847745 Snupn snurportin 1 gene DOID:630 genetic disease ISO RGD:1353124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847745 Snupn snurportin 1 gene DOID:9256 colorectal cancer ISO RGD:1353124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8847762 Wdr93 WD repeat domain 93 gene DOID:0060041 autism spectrum disorder ISO RGD:1604328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic spectrum disorder with isolated skills PMID:25558065 8847762 Wdr93 WD repeat domain 93 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1604328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8847762 Wdr93 WD repeat domain 93 gene DOID:2717 Bloom syndrome ISO RGD:1604328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8847762 Wdr93 WD repeat domain 93 gene DOID:630 genetic disease ISO RGD:1604328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847762 Wdr93 WD repeat domain 93 gene DOID:9256 colorectal cancer ISO RGD:1604328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8847787 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:0112367 Coffin-Siris syndrome 8 ISO RGD:1315563 D RGD:7240710 20190424 OMIM 8847787 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:0112367 Coffin-Siris syndrome 8 ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition PMID:23556151|PMID:25590979|PMID:25741868|PMID:27620904|PMID:30580808 8847787 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:10283 prostate cancer ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8847787 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:1059 intellectual disability ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8847787 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:630 genetic disease ISO RGD:1315563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30580808 8847787 Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8847820 Fam171b family with sequence similarity 171 member B gene DOID:630 genetic disease ISO RGD:1354368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847820 Fam171b family with sequence similarity 171 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8847831 Rpl3 ribosomal protein L3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8847831 Rpl3 ribosomal protein L3 gene DOID:305 carcinoma ISO RGD:1345939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8847831 Rpl3 ribosomal protein L3 gene DOID:630 genetic disease ISO RGD:1345939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847831 Rpl3 ribosomal protein L3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8847831 Rpl3 ribosomal protein L3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:732554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:732554 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080718 GNE myopathy ISO RGD:732554 D RGD:7240710 20180130 OMIM 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080718 GNE myopathy ISO RGD:732554 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GNE myopathy | ClinVar Annotator: match by term: Inclusion body myopathy 2 | ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:11916006|PMID:12177386|PMID:12325084|PMID:12409274|PMID:12473753|PMID:12473769|PMID:12473780|PMID:12497639|PMID:12743242|PMID:12811782|PMID:12913203|PMID:14678807|PMID:14707127|PMID:14733962|PMID:14733963|PMID:14972325|PMID:15136692|PMID:15146476|PMID:15147877|PMID:15330759|PMID:15670773|PMID:15793292|PMID:15834044|PMID:15987957|PMID:16112887|PMID:16199547|PMID:16372135|PMID:16503389|PMID:16503651|PMID:16810679|PMID:17098358|PMID:17164266|PMID:17261181|PMID:17576681|PMID:17698786|PMID:17704511|PMID:17706199|PMID:17718674|PMID:18383535|PMID:18555875|PMID:19078806|PMID:19596068|PMID:19841673|PMID:19917666|PMID:20030229|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:20346669|PMID:21131200|PMID:21294420|PMID:21307865|PMID:21436238|PMID:21517694|PMID:21708040|PMID:21868336|PMID:21873062|PMID:21910480|PMID:22194990|PMID:22196754|PMID:22231866|PMID:22322304|PMID:22343627|PMID:22507750|PMID:22855677|PMID:22883483|PMID:23127962|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23549799|PMID:23558691|PMID:23806237|PMID:24005727|PMID:24027297|PMID:2402797|PMID:24033266|PMID:24136589|PMID:24474513|PMID:24695763|PMID:24707269|PMID:24737350|PMID:2473753|PMID:24796702|PMID:25046369|PMID:25061177|PMID:25123033|PMID:25182749|PMID:25257349|PMID:25303967|PMID:25422667|PMID:25590979|PMID:25617006|PMID:25640679|PMID:25741868|PMID:25966635|PMID:25978849|PMID:25986339|PMID:26053703|PMID:26161358|PMID:26231298|PMID:26467025|PMID:26627873|PMID:26968811|PMID:26980148|PMID:27363342|PMID:27457812|PMID:27479822|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:27966821|PMID:2808337|PMID:28099567|PMID:28320138|PMID:28403181|PMID:28492532|PMID:28641925|PMID:28717665|PMID:28895049|PMID:29305133|PMID:29307446|PMID:29406958|PMID:29480215|PMID:29941673|PMID:29997562|PMID:30112071|PMID:30160005|PMID:30390020|PMID:30467490|PMID:30564623|PMID:30842975|PMID:30990900|PMID:31064749|PMID:31167812|PMID:31286697|PMID:32053088|PMID:32505938|PMID:32935436|PMID:33031330|PMID:33214394|PMID:33250842|PMID:34676965|PMID:35138478|PMID:35438352|PMID:36360228|PMID:5182749|PMID:9536098 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0080942 anauxetic dysplasia ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0081363 distal myopathy with rimmed vacuoles ISO RGD:732554 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES PMID:11528398|PMID:12497639|PMID:12743242|PMID:14972325|PMID:16810679|PMID:17576681|PMID:18555875|PMID:20059379|PMID:20175955|PMID:20301439|PMID:21294420|PMID:21708040|PMID:22196754|PMID:23437777|PMID:23806237|PMID:24005727|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:9536098 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:1588 thrombocytopenia ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24796702|PMID:25741868|PMID:26980148|PMID:28320138|PMID:28492532|PMID:31064749 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:1826 epilepsy ISO RGD:732554 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3429 inclusion body myositis ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inclusion body myositis PMID:25741868 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:7240710 20180130 OMIM 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:22507750|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23549799|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:22507750|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:3659 sialuria ISO RGD:732554 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:630 genetic disease ISO RGD:732554 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330343|PMID:11326336|PMID:17576681|PMID:19917666|PMID:20301343|PMID:2443758|PMID:25741868|PMID:28492532|PMID:9536098 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9001727 French Type Sialuria ISO RGD:732554 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Sialuria, French type PMID:11528398|PMID:12497639|PMID:12743242|PMID:14972325|PMID:16810679|PMID:17576681|PMID:18555875|PMID:20059379|PMID:20175955|PMID:20301439|PMID:21294420|PMID:21708040|PMID:22196754|PMID:23437777|PMID:23806237|PMID:24005727|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:9536098 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9562 primary ciliary dyskinesia ISO RGD:732554 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8847849 Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene DOID:9870 galactosemia ISO RGD:732554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8847881 IER2 immediate early response 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1343257 D RGD:9068941 20220818 RGD mRNA, protein:decreased expression:liver (human) PMID:32009420|REF_RGD_ID:153323326 8847881 Ier2 immediate early response 2 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:1343257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 8847881 Ier2 immediate early response 2 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1343257 D RGD:9068941 20220818 RGD protein:increased expression:colon (human) PMID:22120713|REF_RGD_ID:153323322 8847881 Ier2 immediate early response 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343257 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 8847881 Ier2 immediate early response 2 gene DOID:0070323 childhood acute myeloid leukemia ISO RGD:1343257 D RGD:9068941 20220818 RGD mRNA:increased expression:bone marrow (human) PMID:34702297|REF_RGD_ID:153323323 8847881 Ier2 immediate early response 2 gene DOID:0080600 COVID-19 ISO RGD:1343257 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8847881 Ier2 immediate early response 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8847881 Ier2 immediate early response 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1343257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8847881 Ier2 immediate early response 2 gene DOID:1909 melanoma disease_progression ISO RGD:1343257 D RGD:9068941 20220818 RGD mRNA:increased expression:skin (human) PMID:34611309|REF_RGD_ID:153323325 8847881 Ier2 immediate early response 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1343257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8847881 Ier2 immediate early response 2 gene DOID:630 genetic disease ISO RGD:1343257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847881 Ier2 immediate early response 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1359581 D RGD:9068941 20220818 RGD PMID:22120713|REF_RGD_ID:153323322 8847881 Ier2 immediate early response 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1343257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8847881 Ier2 immediate early response 2 gene DOID:9256 colorectal cancer ISO RGD:1343257 D RGD:9068941 20220818 RGD DNA:hypomethylation:promoter (human) PMID:34311674|REF_RGD_ID:153323328 8847891 Myl6b myosin light chain 6B gene DOID:630 genetic disease ISO RGD:1606964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847891 Myl6b myosin light chain 6B gene DOID:9000058 Keloid ISO RGD:1606964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8847913 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:0050328 congenital hypothyroidism ISO RGD:620083 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex (rat) PMID:21575372|REF_RGD_ID:11049155 8847913 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:1596 depressive disorder treatment ISO RGD:620083 D RGD:9068941 20200609 RGD PMID:25641667|REF_RGD_ID:13800885 8847913 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:3910 lung adenocarcinoma ISO RGD:1351705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8847913 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:630 genetic disease ISO RGD:1351705 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847913 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:684 hepatocellular carcinoma ISO RGD:1351705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8847913 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:9000998 Brain Injuries treatment ISO RGD:620083 D RGD:9068941 20200609 RGD PMID:26813465|REF_RGD_ID:13800884 8847913 Atp5pd ATP synthase peripheral stalk subunit d gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620083 D RGD:9068941 20200609 RGD protein:decreased expression:retina (rat) PMID:17465459|REF_RGD_ID:5147874 8847922 LOC102003136 histone H2A type 1-A gene DOID:630 genetic disease ISO RGD:1349225 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847933 CUNH6orf118 chromosome unknown C6orf118 homolog gene DOID:630 genetic disease ISO RGD:1349789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847952 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 8847952 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:0050891 adrenal cortical adenoma ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669941 8847952 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:2316 brain ischemia ISO RGD:1310574 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, cerebral cortex, cytosol, nucleus PMID:12150772|REF_RGD_ID:7327190 8847952 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:4947 cholangiocarcinoma ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 8847952 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:630 genetic disease ISO RGD:1321558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847952 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:1310574 D RGD:9068941 20200609 RGD PMID:7769990|REF_RGD_ID:7327191 8847952 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16949795 8847952 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:9003250 Cardioacrofacial Dysplasia 2 ISO RGD:1321558 D RGD:7240710 20210113 OMIM 8847952 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:9003250 Cardioacrofacial Dysplasia 2 ISO RGD:1321558 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2 PMID:25741868|PMID:33058759 8847952 Prkacb protein kinase cAMP-activated catalytic subunit beta gene DOID:9005158 Cushing Syndrome ISO RGD:1321558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669941 8847982 Pde11a phosphodiesterase 11A gene DOID:0090022 split hand-foot malformation 5 ISO RGD:737612 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8847982 Pde11a phosphodiesterase 11A gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:737612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:16767104|PMID:19671705|PMID:20351491|PMID:21047926|PMID:24033266|PMID:25741868|PMID:27535533|PMID:28492532 8847982 Pde11a phosphodiesterase 11A gene DOID:5419 schizophrenia ISO RGD:737612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8847982 Pde11a phosphodiesterase 11A gene DOID:630 genetic disease ISO RGD:737612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8847982 Pde11a phosphodiesterase 11A gene DOID:9002348 Primary Pigmented Nodular Adrenocortical Disease, 2 ISO RGD:737612 D RGD:7240710 20180130 OMIM 8847982 Pde11a phosphodiesterase 11A gene DOID:9002348 Primary Pigmented Nodular Adrenocortical Disease, 2 ISO RGD:737612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PDE11A-related condition | ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 PMID:16767104|PMID:19671705|PMID:20351491|PMID:21047926|PMID:21681106|PMID:24033266|PMID:25741868|PMID:27535533|PMID:28492532 8848014 Calhm1 calcium homeostasis modulator 1 gene DOID:11054 urinary bladder cancer ISO RGD:1603161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8848014 Calhm1 calcium homeostasis modulator 1 gene DOID:630 genetic disease ISO RGD:1603161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848019 Faxdc2 fatty acid hydroxylase domain containing 2 gene DOID:630 genetic disease ISO RGD:1319694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848019 Faxdc2 fatty acid hydroxylase domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1319694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8848038 LOC102006164 24-hydroxycholesterol 7-alpha-hydroxylase gene DOID:0060041 autism spectrum disorder ISO RGD:1316685 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8848038 LOC102006164 24-hydroxycholesterol 7-alpha-hydroxylase gene DOID:630 genetic disease ISO RGD:1316685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848038 LOC102006164 24-hydroxycholesterol 7-alpha-hydroxylase gene DOID:684 hepatocellular carcinoma ISO RGD:1316685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8848056 Enthd1 ENTH domain containing 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8848056 Enthd1 ENTH domain containing 1 gene DOID:630 genetic disease ISO RGD:1602180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848071 Rhag Rh associated glycoprotein gene DOID:0050641 Rh deficiency syndrome ISO RGD:731598 D RGD:7240710 20180130 OMIM 8848071 Rhag Rh associated glycoprotein gene DOID:0050641 Rh deficiency syndrome ISO RGD:731598 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Rh-null, regulator type PMID:10467273|PMID:25741868|PMID:28492532|PMID:32036089|PMID:9442063 8848071 Rhag Rh associated glycoprotein gene DOID:0111562 overhydrated hereditary stomatocytosis ISO RGD:731598 D RGD:7240710 20180130 OMIM 8848071 Rhag Rh associated glycoprotein gene DOID:0111562 overhydrated hereditary stomatocytosis ISO RGD:731598 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis | ClinVar Annotator: match by term: RHAG-related condition PMID:19831342|PMID:21859730|PMID:23967154|PMID:25741868 8848071 Rhag Rh associated glycoprotein gene DOID:583 hemolytic anemia ISO RGD:731598 D RGD:9068941 20200609 RGD Rh(null) syndrome, OMIM:180297 PMID:10467273|REF_RGD_ID:1599622 8848071 Rhag Rh associated glycoprotein gene DOID:630 genetic disease ISO RGD:731598 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737318 D RGD:7240710 20180130 OMIM 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:737318 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Infantile visceral myopathy | ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:11474115|PMID:21681106|PMID:22960657|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:24777424|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:26938784|PMID:27481187|PMID:28422808|PMID:29387497|PMID:29608093|PMID:29781137|PMID:30019982|PMID:31769566|PMID:32814715|PMID:33294969 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:737318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:737318 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Intestinal pseudo-obstruction | ClinVar Annotator: match by term: Visceral myopathy PMID:11474115|PMID:21681106|PMID:22960657|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:24777424|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:26938784|PMID:27481187|PMID:28422808|PMID:29387497|PMID:29608093|PMID:29781137|PMID:31769566|PMID:32814715|PMID:33294969 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:0080682 autosomal dominant familial visceral neuropathy ISO RGD:737318 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal | ClinVar Annotator: match by term: Visceral neuropathy, familial, autosomal dominant PMID:11474115|PMID:21681106|PMID:22960657|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:24777424|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:26938784|PMID:27481187|PMID:28422808|PMID:29387497|PMID:29608093|PMID:29781137|PMID:31769566|PMID:32814715|PMID:33294969 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:543 dystonia ISO RGD:737318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:630 genetic disease ISO RGD:737318 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11474115|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27481187|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:8437 intestinal obstruction ISO RGD:737318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal obstruction PMID:22960657|PMID:24777424|PMID:25741868|PMID:29781137 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:737318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:9000803 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 ISO RGD:737318 D RGD:7240710 20210728 OMIM 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:9000803 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 ISO RGD:737318 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 PMID:11474115|PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25326635|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26647307|PMID:26813947|PMID:27481187|PMID:28422808|PMID:29608093|PMID:29781137|PMID:31769566|PMID:33294969 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:9000807 Megaduodenum ISO RGD:737318 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Megacystis PMID:23806086|PMID:24088041|PMID:24337657|PMID:24676022|PMID:25741868|PMID:25998219|PMID:26072522|PMID:26813947|PMID:27481187|PMID:28422808|PMID:29781137|PMID:31769566|PMID:33294969 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:9002025 Familial Visceral Myopathy ISO RGD:737318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22960657 8848088 Actg2 actin gamma 2, smooth muscle gene DOID:9002928 Colonic Neoplasms ISO RGD:737318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8848103 Ten1 TEN1 subunit of CST complex gene DOID:0050797 peroxisomal acyl-CoA oxidase deficiency ISO RGD:2801979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency 8848104 Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:0081131 BH4-deficient hyperphenylalaninemia D ISO RGD:1604063 D RGD:7240710 20180130 OMIM 8848104 Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:0081131 BH4-deficient hyperphenylalaninemia D ISO RGD:1604063 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-deficient, D | ClinVar Annotator: match by term: Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency PMID:24133926|PMID:24204001|PMID:24848070|PMID:25333069|PMID:25741868|PMID:27246466|PMID:28492532|PMID:36313470|PMID:8352282|PMID:8618906|PMID:9585615|PMID:958615|PMID:9760199 8848104 Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1604063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8848104 Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:630 genetic disease ISO RGD:1604063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8848104 Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1604063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8848104 Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 gene DOID:9281 phenylketonuria ISO RGD:1604063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia 8848112 Fam217a family with sequence similarity 217 member A gene DOID:630 genetic disease ISO RGD:1345120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848133 Zim2 zinc finger imprinted 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1349311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8848133 Zim2 zinc finger imprinted 2 gene DOID:630 genetic disease ISO RGD:1349311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848133 Zim2 zinc finger imprinted 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1349311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8848143 Mau2 MAU2 sister chromatid cohesion factor gene DOID:0060041 autism spectrum disorder ISO RGD:1318717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8848143 Mau2 MAU2 sister chromatid cohesion factor gene DOID:630 genetic disease ISO RGD:1318717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848182 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1349194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:19460324|PMID:24033266|PMID:25741868|PMID:28492532 8848182 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:0111990 immunodeficiency 30 ISO RGD:1349194 D RGD:7240710 20180130 OMIM 8848182 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:0111990 immunodeficiency 30 ISO RGD:1349194 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency PMID:11313259|PMID:11368122|PMID:11424023|PMID:11992283|PMID:12591909|PMID:12594833|PMID:12830418|PMID:15178580|PMID:15736007|PMID:16088278|PMID:16199547|PMID:16293671|PMID:16418797|PMID:16531420|PMID:17392024|PMID:17576681|PMID:19379268|PMID:19460324|PMID:20213287|PMID:21057261|PMID:21812800|PMID:21905505|PMID:24033266|PMID:24186907|PMID:24678409|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26343451|PMID:26621323|PMID:27141500|PMID:27329137|PMID:28492532|PMID:29025965|PMID:29256176|PMID:29995221|PMID:30715640|PMID:30740107|PMID:30998751|PMID:31158284|PMID:31367980|PMID:31951326|PMID:32221732|PMID:32888943|PMID:33732252|PMID:34060650|PMID:9536098|PMID:9603732|PMID:9603733 8848182 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1349194 D RGD:9068941 20200609 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:23910013|REF_RGD_ID:14700865 8848182 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1550152 D RGD:9068941 20200609 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:23910013|REF_RGD_ID:14700865 8848182 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:620025 D RGD:9068941 20200609 RGD RNA:increased expression:peripheral blood mononuclear cell (human) PMID:23910013|REF_RGD_ID:14700865 8848182 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:2316 brain ischemia ISO RGD:1349194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 8848182 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:399 tuberculosis ISO RGD:1349194 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:12591909|PMID:28492532|PMID:9603733 8848182 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11368122|PMID:12591909|PMID:16293671|PMID:16418797|PMID:20213287|PMID:25741868|PMID:28492532 8848182 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:630 genetic disease ISO RGD:1349194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11313259|PMID:11424023|PMID:12591909|PMID:16293671|PMID:21057261|PMID:28492532|PMID:31367980 8848182 Il12rb1 interleukin 12 receptor subunit beta 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1349194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050771 pheochromocytoma ISO RGD:1606278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:28492532 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050773 paraganglioma ISO RGD:1606278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:31687641|PMID:6264239|PMID:6286462|PMID:9536098 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050773 paraganglioma ISO RGD:1606278 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:35668420|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:0050773 paraganglioma ISO RGD:1606278 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32830346|PMID:32887801|PMID:33748650|PMID:35668420|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606278 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:1059 intellectual disability ISO RGD:1606278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:2394 ovarian cancer ISO RGD:1606278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26016412|PMID:28492532|PMID:30050099 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:893 Wilson disease ISO RGD:1606278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:1606278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:28492532 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:1606278 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32830346|PMID:32887801|PMID:33748650|PMID:35668420|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9005655 Paragangliomas 2 ISO RGD:1606278 D RGD:7240710 20180130 OMIM 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9005655 Paragangliomas 2 ISO RGD:1606278 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 2 | ClinVar Annotator: match by term: Paragangliomas 2 PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:24033266|PMID:24414418|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32830346|PMID:32887801|PMID:35668420|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19628817|PMID:20071235|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:31687641|PMID:6286462|PMID:9536098 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:19628817|PMID:20071235|PMID:20301715|PMID:21348866|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26467025|PMID:28099933|PMID:28492532|PMID:30050099|PMID:31687641|PMID:6286462|PMID:9536098 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:28099933|PMID:28492532|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32887801|PMID:33748650|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 8848208 Sdhaf2 succinate dehydrogenase complex assembly factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606278 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:16199547|PMID:17576681|PMID:19628817|PMID:20071235|PMID:21224366|PMID:21348866|PMID:21752896|PMID:22241717|PMID:22703879|PMID:23062074|PMID:23666964|PMID:24033266|PMID:24414418|PMID:24712571|PMID:25394176|PMID:25741868|PMID:26016412|PMID:26096992|PMID:26269449|PMID:26467025|PMID:27600092|PMID:28099933|PMID:28492532|PMID:28892078|PMID:29641532|PMID:30050099|PMID:30306255|PMID:31687641|PMID:32741965|PMID:32830346|PMID:32887801|PMID:33748650|PMID:35668420|PMID:36597280|PMID:6264239|PMID:6286462|PMID:9536098 8848221 Nenf neudesin neurotrophic factor gene DOID:1540 parathyroid carcinoma ISO RGD:1603399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8848221 Nenf neudesin neurotrophic factor gene DOID:630 genetic disease ISO RGD:1603399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848221 Nenf neudesin neurotrophic factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8848229 Siglecl1 SIGLEC family like 1 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1602049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 8848229 Siglecl1 SIGLEC family like 1 gene DOID:630 genetic disease ISO RGD:1602049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848247 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:0060366 Hennekam syndrome ISO RGD:1349047 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED PMID:19935664|PMID:25741868|PMID:25814692|PMID:28492532|PMID:28985353|PMID:32472549|PMID:32629717 8848247 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1349047 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8848247 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1349047 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8848247 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:1059 intellectual disability ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19935664 8848247 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:630 genetic disease ISO RGD:1349047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19935664|PMID:21778431|PMID:25741868|PMID:26686525|PMID:28492532|PMID:28985353|PMID:31453292 8848247 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8848247 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:9001487 Facies ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19935664 8848247 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:9003821 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 ISO RGD:1349047 D RGD:7240710 20190320 OMIM 8848247 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:9003821 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 ISO RGD:1349047 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 PMID:16199547|PMID:17576681|PMID:19911200|PMID:19935664|PMID:21778431|PMID:22239599|PMID:23653581|PMID:24033266|PMID:24167460|PMID:25741868|PMID:25814692|PMID:26686525|PMID:27323140|PMID:28073151|PMID:28492532|PMID:28985353|PMID:31453292|PMID:32472549|PMID:32629717|PMID:9536098 8848247 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:9007818 Distal Renal Tubular Acidosis 4 with Hemolytic Anemia ISO RGD:1349047 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia PMID:25741868 8848247 Ccbe1 collagen and calcium binding EGF domains 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1349047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911200 8848266 Hsf4 heat shock transcription factor 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8848266 Hsf4 heat shock transcription factor 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1321924 D RGD:7240710 20180130 OMIM 8848266 Hsf4 heat shock transcription factor 4 gene DOID:0110255 cataract 5 multiple types ISO RGD:1321924 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CATARACT, MARNER TYPE | ClinVar Annotator: match by term: Cataract 5 multiple types PMID:12089525|PMID:15959809|PMID:16199547|PMID:16876512|PMID:17576681|PMID:18941546|PMID:20421844|PMID:20670914|PMID:23329665|PMID:24045990|PMID:24637349|PMID:24975927|PMID:25741868|PMID:28492532|PMID:30078984|PMID:3233780|PMID:9536098 8848266 Hsf4 heat shock transcription factor 4 gene DOID:630 genetic disease ISO RGD:1321924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8848266 Hsf4 heat shock transcription factor 4 gene DOID:83 cataract ISO RGD:1321924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25741868 8848300 Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:0050857 Perrault syndrome ISO RGD:1343928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:17690910|PMID:21660509|PMID:22037954|PMID:23541340|PMID:24824130 8848300 Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:0080490 mucolipidosis type IV ISO RGD:1343928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8848300 Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:630 genetic disease ISO RGD:1343928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8848300 Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:9002757 Perrault Syndrome 3 ISO RGD:1343928 D RGD:7240710 20180130 OMIM 8848300 Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:9002757 Perrault Syndrome 3 ISO RGD:1343928 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Perrault syndrome 3 PMID:17690910|PMID:21660509|PMID:22037954|PMID:23541340|PMID:24033266|PMID:24824130|PMID:25741868|PMID:26467025|PMID:27087618|PMID:28492532 8848300 Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit gene DOID:9003326 Perrault Syndrome 1 ISO RGD:1343928 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 PMID:30311386 8848333 Pja1 praja ring finger ubiquitin ligase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8848333 Pja1 praja ring finger ubiquitin ligase 1 gene DOID:12849 autistic disorder ISO RGD:1353522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8848333 Pja1 praja ring finger ubiquitin ligase 1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:1353522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 8848333 Pja1 praja ring finger ubiquitin ligase 1 gene DOID:630 genetic disease ISO RGD:1353522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848343 Zmat4 zinc finger matrin-type 4 gene DOID:630 genetic disease ISO RGD:1606216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848356 Secisbp2 SECIS binding protein 2 gene DOID:630 genetic disease ISO RGD:1343356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848356 Secisbp2 SECIS binding protein 2 gene DOID:9002068 Abnormal Thyroid Hormone Metabolism 1 ISO RGD:1343356 D RGD:7240710 20180130 OMIM 8848356 Secisbp2 SECIS binding protein 2 gene DOID:9002068 Abnormal Thyroid Hormone Metabolism 1 ISO RGD:1343356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid hormone metabolism, abnormal 1 PMID:16228000|PMID:24033266|PMID:25741868|PMID:29882503 8848356 Secisbp2 SECIS binding protein 2 gene DOID:9006257 Growth Disorders ISO RGD:1343356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19602558 8848356 Secisbp2 SECIS binding protein 2 gene DOID:9252 amino acid metabolic disorder ISO RGD:1343356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16228000 8848384 Nbeal2 neurobeachin like 2 gene DOID:0111044 gray platelet syndrome ISO RGD:1604049 D RGD:7240710 20180130 OMIM 8848384 Nbeal2 neurobeachin like 2 gene DOID:0111044 gray platelet syndrome ISO RGD:1604049 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Gray platelet syndrome | ClinVar Annotator: match by term: NBEAL2-related condition PMID:21765411|PMID:21765412|PMID:21765413|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362|PMID:32693407|PMID:36430862 8848384 Nbeal2 neurobeachin like 2 gene DOID:10126 keratoconus ISO RGD:1604049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 8848384 Nbeal2 neurobeachin like 2 gene DOID:2213 hemorrhagic disease ISO RGD:1604049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532 8848384 Nbeal2 neurobeachin like 2 gene DOID:630 genetic disease ISO RGD:1604049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8848384 Nbeal2 neurobeachin like 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1604049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8848448 Ccdc157 coiled-coil domain containing 157 gene DOID:630 genetic disease ISO RGD:1604878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848473 Caps calcyphosine gene DOID:630 genetic disease ISO RGD:1348480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848489 Dcn decorin gene DOID:0060445 congenital stromal corneal dystrophy ISO RGD:1346102 D RGD:7240710 20180130 OMIM 8848489 Dcn decorin gene DOID:0060445 congenital stromal corneal dystrophy ISO RGD:1346102 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Congenital stromal corneal dystrophy PMID:11805522|PMID:15671264|PMID:16935612|PMID:21993463|PMID:24413633|PMID:28492532|PMID:5304426 8848489 Dcn decorin gene DOID:1063 interstitial nephritis ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 8848489 Dcn decorin gene DOID:11714 gestational diabetes ISO RGD:1346102 D RGD:9068941 20200609 RGD PMID:16630654|REF_RGD_ID:2311413 8848489 Dcn decorin gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 8848489 Dcn decorin gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:62188 D RGD:9068941 20220825 MouseDO OMIM:225400 8848489 Dcn decorin gene DOID:2841 asthma ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:16387756|REF_RGD_ID:2311423 8848489 Dcn decorin gene DOID:3070 high grade glioma disease_progression ISO RGD:1346102 D RGD:9068941 20200609 RGD PMID:15475879|REF_RGD_ID:2311425 8848489 Dcn decorin gene DOID:3459 breast carcinoma ISO RGD:1346102 D RGD:9068941 20200609 RGD PMID:18688028|REF_RGD_ID:2311418 8848489 Dcn decorin gene DOID:5844 myocardial infarction ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:16311904|REF_RGD_ID:1598497 8848489 Dcn decorin gene DOID:630 genetic disease ISO RGD:1346102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848489 Dcn decorin gene DOID:684 hepatocellular carcinoma ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8848489 Dcn decorin gene DOID:9000784 Fibrosis ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 8848489 Dcn decorin gene DOID:9000784 Fibrosis ISO RGD:61895 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:16005714|REF_RGD_ID:2311424 8848489 Dcn decorin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346102 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18688028|REF_RGD_ID:2311418 8848489 Dcn decorin gene DOID:9001600 Wounds and Injuries ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:19393425|REF_RGD_ID:2311417 8848489 Dcn decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346102 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:12187087|REF_RGD_ID:2311415 8848489 Dcn decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346102 D RGD:9068941 20200609 RGD protein:increased expression:plasma, urine PMID:11259366|REF_RGD_ID:2311416 8848489 Dcn decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:62188 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17884968|REF_RGD_ID:2311411 8848489 Dcn decorin gene DOID:9002165 Diabetic Nephropathies ISO RGD:62188 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA, protein:decreased expression:kidney cortex, glomerulus PMID:16868749|REF_RGD_ID:2311412 8848489 Dcn decorin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:15713786|REF_RGD_ID:2311414 8848489 Dcn decorin gene DOID:9007102 Myocardial Ischemia ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8848489 Dcn decorin gene DOID:9007715 Endometrial Neoplasms ISO RGD:1346102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 8848489 Dcn decorin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346102 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18414424|REF_RGD_ID:2311410 8848489 Dcn decorin gene DOID:9970 obesity ISO RGD:61895 D RGD:9068941 20200609 RGD PMID:17244723|REF_RGD_ID:1600551 8848489 Dcn decorin gene DOID:9970 obesity ISO RGD:62188 D RGD:9068941 20200609 RGD PMID:17244723|REF_RGD_ID:1600551 8848508 Coro2b coronin 2B gene DOID:0080600 COVID-19 ISO RGD:1352370 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8848508 Coro2b coronin 2B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8848508 Coro2b coronin 2B gene DOID:2717 Bloom syndrome ISO RGD:1352370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8848508 Coro2b coronin 2B gene DOID:630 genetic disease ISO RGD:1352370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848508 Coro2b coronin 2B gene DOID:9256 colorectal cancer ISO RGD:1352370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8848533 Sec61g SEC61 translocon subunit gamma gene DOID:12849 autistic disorder ISO RGD:1314869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8848533 Sec61g SEC61 translocon subunit gamma gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8848533 Sec61g SEC61 translocon subunit gamma gene DOID:630 genetic disease ISO RGD:1314869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848541 Slc7a8 solute carrier family 7 member 8 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8848541 Slc7a8 solute carrier family 7 member 8 gene DOID:10003 sensorineural hearing loss ISO RGD:733687 D RGD:9068941 20220825 MouseDO OMIM:304400 8848541 Slc7a8 solute carrier family 7 member 8 gene DOID:289 endometriosis ISO RGD:1345085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8848541 Slc7a8 solute carrier family 7 member 8 gene DOID:630 genetic disease ISO RGD:1345085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848541 Slc7a8 solute carrier family 7 member 8 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 8848541 Slc7a8 solute carrier family 7 member 8 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345085 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8848541 Slc7a8 solute carrier family 7 member 8 gene DOID:9007661 Dwarfism ISO RGD:1345085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8848557 Gal3st1 galactose-3-O-sulfotransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1350287 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8848557 Gal3st1 galactose-3-O-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1350287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848573 Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:1320840 D RGD:7240710 20180130 OMIM 8848573 Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:1320840 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E PMID:10642597|PMID:10642602|PMID:15669674|PMID:15771971|PMID:16199547|PMID:16641202|PMID:17576681|PMID:21315133|PMID:23856421|PMID:25640679|PMID:25741868|PMID:26729507|PMID:27481510|PMID:28139241|PMID:28492532|PMID:28743912|PMID:30653653|PMID:31003021|PMID:34015165|PMID:9536098 8848573 Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:1059 intellectual disability ISO RGD:1320840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8848573 Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:5212 congenital disorder of glycosylation ISO RGD:1320840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 8848573 Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic gene DOID:630 genetic disease ISO RGD:1320840 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10642597|PMID:10642602|PMID:21315133|PMID:23856421|PMID:25741868|PMID:28492532 8848590 Cstf3 cleavage stimulation factor subunit 3 gene DOID:1059 intellectual disability ISO RGD:1314208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8848590 Cstf3 cleavage stimulation factor subunit 3 gene DOID:630 genetic disease ISO RGD:1314208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848615 Psrc1 proline and serine rich coiled-coil 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8848615 Psrc1 proline and serine rich coiled-coil 1 gene DOID:12849 autistic disorder ISO RGD:1606488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8848615 Psrc1 proline and serine rich coiled-coil 1 gene DOID:3393 coronary artery disease ISO RGD:1606488 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8848615 Psrc1 proline and serine rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1606488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848632 Lmcd1 LIM and cysteine rich domains 1 gene DOID:11502 mitral valve insufficiency ISO RGD:1319043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26301497 8848632 Lmcd1 LIM and cysteine rich domains 1 gene DOID:4248 coronary stenosis ISO RGD:1319043 D RGD:9068941 20230413 RGD protein:increased expression:coronary artery PMID:32160773|REF_RGD_ID:243065232 8848632 Lmcd1 LIM and cysteine rich domains 1 gene DOID:630 genetic disease ISO RGD:1319043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848632 Lmcd1 LIM and cysteine rich domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8848632 Lmcd1 LIM and cysteine rich domains 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8848632 Lmcd1 LIM and cysteine rich domains 1 gene DOID:988 mitral valve prolapse ISO RGD:1319043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26301497 8848646 Zswim6 zinc finger SWIM-type containing 6 gene DOID:0060342 acromelic frontonasal dysostosis ISO RGD:1352510 D RGD:7240710 20180130 OMIM 8848646 Zswim6 zinc finger SWIM-type containing 6 gene DOID:0060342 acromelic frontonasal dysostosis ISO RGD:1352510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromelic frontonasal dysostosis PMID:25105228|PMID:25741868|PMID:26706854|PMID:28492532 8848646 Zswim6 zinc finger SWIM-type containing 6 gene DOID:1826 epilepsy ISO RGD:1352510 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8848646 Zswim6 zinc finger SWIM-type containing 6 gene DOID:630 genetic disease ISO RGD:1352510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25105228|PMID:25741868|PMID:26706854|PMID:28492532 8848646 Zswim6 zinc finger SWIM-type containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8848646 Zswim6 zinc finger SWIM-type containing 6 gene DOID:9009123 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features ISO RGD:1352510 D RGD:7240710 20190315 OMIM 8848646 Zswim6 zinc finger SWIM-type containing 6 gene DOID:9009123 Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features ISO RGD:1352510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | ClinVar Annotator: match by term: ZSWIM6-related condition PMID:16199547|PMID:25741868|PMID:28492532|PMID:29198722|PMID:31042466 8848689 Pcdh9 protocadherin 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1314916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252227 8848689 Pcdh9 protocadherin 9 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1314916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8848689 Pcdh9 protocadherin 9 gene DOID:630 genetic disease ISO RGD:1314916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848705 Lactb2 lactamase beta 2 gene DOID:630 genetic disease ISO RGD:1317324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848731 Helq helicase, POLQ like gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1605893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8848731 Helq helicase, POLQ like gene DOID:630 genetic disease ISO RGD:1605893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848760 Zbp1 Z-DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1351033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848780 Pgm1 phosphoglucomutase 1 gene DOID:0080570 congenital disorder of glycosylation It ISO RGD:734179 D RGD:7240710 20180130 OMIM 8848780 Pgm1 phosphoglucomutase 1 gene DOID:0080570 congenital disorder of glycosylation It ISO RGD:734179 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t | ClinVar Annotator: match by term: Glycogen storage disease XIV PMID:16199547|PMID:17576681|PMID:19625727|PMID:22492991|PMID:22976764|PMID:24499211|PMID:25288802|PMID:25741868|PMID:26768186|PMID:27206562|PMID:28117557|PMID:28492532|PMID:28617415|PMID:29858906|PMID:30122451|PMID:33342467|PMID:33413482|PMID:33473337|PMID:34782754|PMID:9536098 8848780 Pgm1 phosphoglucomutase 1 gene DOID:1059 intellectual disability ISO RGD:734179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8848780 Pgm1 phosphoglucomutase 1 gene DOID:1380 endometrial cancer ISO RGD:734179 D RGD:9068941 20200609 RGD PMID:508567|REF_RGD_ID:2299870 8848780 Pgm1 phosphoglucomutase 1 gene DOID:3307 teratoma ISO RGD:734179 D RGD:9068941 20200609 RGD PMID:5259759|REF_RGD_ID:2299871 8848780 Pgm1 phosphoglucomutase 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:734179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:25741868|PMID:28492532 8848780 Pgm1 phosphoglucomutase 1 gene DOID:630 genetic disease ISO RGD:734179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24499211|PMID:25741868|PMID:28117557|PMID:28492532|PMID:30122451 8848780 Pgm1 phosphoglucomutase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:734179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8848780 Pgm1 phosphoglucomutase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8848780 Pgm1 phosphoglucomutase 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:734179 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 8848780 Pgm1 phosphoglucomutase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:734179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8848795 Galr2 galanin receptor 2 gene DOID:1470 major depressive disorder ISO RGD:733781 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 8848795 Galr2 galanin receptor 2 gene DOID:630 genetic disease ISO RGD:733781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848795 Galr2 galanin receptor 2 gene DOID:9008627 Severe Congenital Neutropenia 10 ISO RGD:733781 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive PMID:32273475 8848807 Sys1 SYS1 golgi trafficking protein gene DOID:2234 focal epilepsy ISO RGD:1602841 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8848807 Sys1 SYS1 golgi trafficking protein gene DOID:2377 multiple sclerosis ISO RGD:1602841 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8848807 Sys1 SYS1 golgi trafficking protein gene DOID:630 genetic disease ISO RGD:1602841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848807 Sys1 SYS1 golgi trafficking protein gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1602841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8848820 Dnm1l dynamin 1 like gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 8848820 Dnm1l dynamin 1 like gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:733618 D RGD:7240710 20180130 OMIM 8848820 Dnm1l dynamin 1 like gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:733618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DNM1L-related disorders | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:17460227|PMID:18414213|PMID:20696759|PMID:25326635|PMID:25741868|PMID:26604000|PMID:26825290|PMID:26931468|PMID:26992161|PMID:27145208|PMID:27328748|PMID:28492532|PMID:29877124|PMID:30801875|PMID:30850373|PMID:31475481|PMID:31587467 8848820 Dnm1l dynamin 1 like gene DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia PMID:25741868|PMID:28492532 8848820 Dnm1l dynamin 1 like gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:733618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:27066507|PMID:28492532 8848820 Dnm1l dynamin 1 like gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 8848820 Dnm1l dynamin 1 like gene DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 ISO RGD:733618 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 PMID:25741868|PMID:28492532 8848820 Dnm1l dynamin 1 like gene DOID:0111438 optic atrophy 5 ISO RGD:733618 D RGD:7240710 20190315 OMIM 8848820 Dnm1l dynamin 1 like gene DOID:0111438 optic atrophy 5 ISO RGD:733618 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Optic atrophy 5 PMID:15635063|PMID:16199547|PMID:20696759|PMID:25741868|PMID:26604000|PMID:26825290|PMID:27145208|PMID:27328748|PMID:28492532|PMID:28969390|PMID:29110115|PMID:29877124|PMID:30850373|PMID:34356170 8848820 Dnm1l dynamin 1 like gene DOID:10652 Alzheimer's disease ISO RGD:733618 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (human) PMID:19605646|REF_RGD_ID:7800727 8848820 Dnm1l dynamin 1 like gene DOID:10907 microcephaly ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 8848820 Dnm1l dynamin 1 like gene DOID:12930 dilated cardiomyopathy ISO RGD:733619 D RGD:9068941 20220825 MouseDO 8848820 Dnm1l dynamin 1 like gene DOID:13711 dental fluorosis ISO RGD:620416 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:frontal cortex (rat) PMID:23007560|REF_RGD_ID:12738230 8848820 Dnm1l dynamin 1 like gene DOID:14330 Parkinson's disease ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28215578 8848820 Dnm1l dynamin 1 like gene DOID:3650 lactic acidosis ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 8848820 Dnm1l dynamin 1 like gene DOID:3770 pulmonary fibrosis ISO RGD:620416 D RGD:9068941 20200710 RGD mRNA,protein:increased expression:lung,mitochondrion PMID:25284615|REF_RGD_ID:35673291 8848820 Dnm1l dynamin 1 like gene DOID:3770 pulmonary fibrosis ISO RGD:733618 D RGD:9068941 20200710 RGD protein:increased expression:lung PMID:25284615|REF_RGD_ID:35673291 8848820 Dnm1l dynamin 1 like gene DOID:5723 optic atrophy ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 8848820 Dnm1l dynamin 1 like gene DOID:630 genetic disease ISO RGD:733618 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20696759|PMID:25741868|PMID:26604000|PMID:26931468|PMID:27145208|PMID:28492532|PMID:29110115|PMID:29877124|PMID:31587467|PMID:34356170 8848820 Dnm1l dynamin 1 like gene DOID:700 mitochondrial metabolism disease ISO RGD:733618 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868 8848820 Dnm1l dynamin 1 like gene DOID:784 chronic kidney disease treatment ISO RGD:620416 D RGD:9068941 20200609 RGD PMID:27801955|REF_RGD_ID:12738369 8848820 Dnm1l dynamin 1 like gene DOID:820 myocarditis ISO RGD:733618 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34365571 8848820 Dnm1l dynamin 1 like gene DOID:890 mitochondrial encephalomyopathy ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17460227 8848820 Dnm1l dynamin 1 like gene DOID:9000220 Coxsackievirus Infections ISO RGD:733618 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34365571 8848820 Dnm1l dynamin 1 like gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:620416 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:23517027|REF_RGD_ID:12738217 8848820 Dnm1l dynamin 1 like gene DOID:9007102 Myocardial Ischemia ISO RGD:733618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8848820 Dnm1l dynamin 1 like gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:733619 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 8848820 Dnm1l dynamin 1 like gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620416 D RGD:9068941 20200609 RGD PMID:21820301|REF_RGD_ID:11561956 8848820 Dnm1l dynamin 1 like gene DOID:9970 obesity ISO RGD:733618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:26825290|PMID:27328748|PMID:28492532 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1318284 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070221 progressive familial intrahepatic cholestasis ISO RGD:1318284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis PMID:14988830|PMID:15239083|PMID:19731236|PMID:19918981|PMID:20232290|PMID:22525741|PMID:25741868|PMID:26382629|PMID:26858187|PMID:26879107|PMID:28492532|PMID:31450232|PMID:33437900|PMID:33666275|PMID:34016879|PMID:34543749|PMID:5807632|PMID:9500542|PMID:9918928 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:1318284 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:15239083|PMID:15888793|PMID:19731236|PMID:20981092|PMID:22995991|PMID:25741868|PMID:28492532 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:7240710 20180130 OMIM 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: Byler's disease PMID:11093741|PMID:12149765|PMID:14976163|PMID:14988830|PMID:15239083|PMID:15317749|PMID:15657619|PMID:15888793|PMID:16374853|PMID:17576681|PMID:1774530|PMID:18937870|PMID:19260995|PMID:19381753|PMID:19731236|PMID:19918981|PMID:20038848|PMID:20232290|PMID:20414253|PMID:20683201|PMID:20852622|PMID:20981092|PMID:22525741|PMID:22995991|PMID:24033266|PMID:24260417|PMID:25741868|PMID:26126923|PMID:26594346|PMID:26756876|PMID:26879107|PMID:27050426|PMID:28045770|PMID:28492532|PMID:28733223|PMID:28776642|PMID:28924228|PMID:29238877|PMID:30366773|PMID:31555573|PMID:32650689|PMID:32695736|PMID:33223529|PMID:33666275|PMID:34016879|PMID:34543749|PMID:35894240|PMID:5762004|PMID:5807632|PMID:9500542|PMID:9536098|PMID:9918928 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:1318284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070228 intrahepatic cholestasis of pregnancy 1 ISO RGD:1318284 D RGD:7240710 20180912 OMIM 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070228 intrahepatic cholestasis of pregnancy 1 ISO RGD:1318284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1 PMID:15239083|PMID:15657619|PMID:15888793|PMID:19731236|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24260417|PMID:25741868|PMID:26126923|PMID:28492532|PMID:28924228|PMID:29238877|PMID:32650689|PMID:32695736|PMID:33223529|PMID:35894240 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070231 benign recurrent intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:7240710 20180912 OMIM 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0070231 benign recurrent intrahepatic cholestasis 1 ISO RGD:1318284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Summerskill syndrome PMID:14988830|PMID:15239083|PMID:15317749|PMID:15657619|PMID:15888793|PMID:19260995|PMID:19731236|PMID:19918981|PMID:20232290|PMID:20414253|PMID:20981092|PMID:22525741|PMID:22995991|PMID:24033266|PMID:24260417|PMID:25741868|PMID:26126923|PMID:26382629|PMID:26858187|PMID:26879107|PMID:27050426|PMID:28492532|PMID:28924228|PMID:29238877|PMID:30366773|PMID:31450232|PMID:32650689|PMID:32695736|PMID:33437900|PMID:33666275|PMID:34016879|PMID:35431768|PMID:35894240|PMID:5807632|PMID:7894490|PMID:9500542|PMID:9918928 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:0111988 immunodeficiency 12 ISO RGD:1318284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:1852 intrahepatic cholestasis ISO RGD:1318284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Progressive intrahepatic cholestasis PMID:14988830|PMID:15239083|PMID:19731236|PMID:19918981|PMID:20232290|PMID:22525741|PMID:25741868|PMID:26382629|PMID:26858187|PMID:26879107|PMID:28492532|PMID:31450232|PMID:33437900|PMID:33666275|PMID:34016879|PMID:5807632|PMID:9500542|PMID:9918928 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:1852 intrahepatic cholestasis susceptibility ISO RGD:1318284 D RGD:9068941 20200609 RGD DNA:mutation PMID:9500542|REF_RGD_ID:1599397 8848891 Atp8b1 ATPase phospholipid transporting 8B1 gene DOID:630 genetic disease ISO RGD:1318284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14988830|PMID:15239083|PMID:20232290|PMID:22525741|PMID:25741868|PMID:28492532|PMID:33666275 8848923 Stox2 storkhead box 2 gene DOID:630 genetic disease ISO RGD:1601982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848941 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:1826 epilepsy ISO RGD:1351476 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8848941 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1351476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8848941 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:630 genetic disease ISO RGD:1351476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848941 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:9004890 Paranoid Disorders ISO RGD:1351476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8848941 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:9004890 Paranoid Disorders susceptibility ISO RGD:1351476 D RGD:9068941 20231102 RGD associated with cocaine dependence;DNA:SNP:: (rs936013) (human) PMID:18438686|REF_RGD_ID:401851917 8848941 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1351476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8848941 Ice2 interactor of little elongation complex ELL subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1351476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8848991 Slc10a7 solute carrier family 10 member 7 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1351041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 8848991 Slc10a7 solute carrier family 10 member 7 gene DOID:13580 cholestasis ISO RGD:1351041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8848991 Slc10a7 solute carrier family 10 member 7 gene DOID:225 syndrome ISO RGD:1316406 D RGD:9068941 20220825 MouseDO 8848991 Slc10a7 solute carrier family 10 member 7 gene DOID:630 genetic disease ISO RGD:1351041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8848991 Slc10a7 solute carrier family 10 member 7 gene DOID:9000420 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis ISO RGD:1351041 D RGD:7240710 20190424 OMIM 8848991 Slc10a7 solute carrier family 10 member 7 gene DOID:9000420 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis ISO RGD:1351041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis PMID:25741868|PMID:29878199|PMID:30082715 8848991 Slc10a7 solute carrier family 10 member 7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8849007 Kiaa0319 KIAA0319 ortholog gene DOID:630 genetic disease ISO RGD:1348294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849035 Stk35 serine/threonine kinase 35 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1321037 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8849035 Stk35 serine/threonine kinase 35 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1321037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8849035 Stk35 serine/threonine kinase 35 gene DOID:630 genetic disease ISO RGD:1321037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849045 Leng8 leukocyte receptor cluster member 8 gene DOID:630 genetic disease ISO RGD:1314652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849085 Cdh10 cadherin 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1350088 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8849085 Cdh10 cadherin 10 gene DOID:12849 autistic disorder ISO RGD:1350088 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404256 8849085 Cdh10 cadherin 10 gene DOID:630 genetic disease ISO RGD:1350088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849085 Cdh10 cadherin 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8849141 Nck1 NCK adaptor protein 1 gene DOID:1184 nephrotic syndrome ISO RGD:1321736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 8849141 Nck1 NCK adaptor protein 1 gene DOID:576 proteinuria ISO RGD:1321736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 8849141 Nck1 NCK adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1321736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849141 Nck1 NCK adaptor protein 1 gene DOID:9001542 Albuminuria ISO RGD:1321736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19443634 8849141 Nck1 NCK adaptor protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8849161 Anxa6 annexin A6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8849161 Anxa6 annexin A6 gene DOID:630 genetic disease ISO RGD:733718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849161 Anxa6 annexin A6 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733718 D RGD:9068941 20220616 RGD associated with tumor vascularization; protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 8849161 Anxa6 annexin A6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733718 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8849161 Anxa6 annexin A6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8849161 Anxa6 annexin A6 gene DOID:9119 acute myeloid leukemia ISO RGD:733718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8849195 Zcchc24 zinc finger CCHC-type containing 24 gene DOID:630 genetic disease ISO RGD:1314625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849203 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:0050439 Usher syndrome ISO RGD:1313879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 8849203 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1313879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8849203 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:12930 dilated cardiomyopathy ISO RGD:1313879 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 8849203 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:1540 parathyroid carcinoma ISO RGD:1313879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8849203 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:630 genetic disease ISO RGD:1313879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849203 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:9000303 Familial Restrictive Cardiomyopathy 6 ISO RGD:1313879 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 6 PMID:25741868 8849203 Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:736644 D RGD:9068941 20211029 RGD DNA:SNP:exon 9: p.G388R (human) PMID:20127014|REF_RGD_ID:150520164 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:10283 prostate cancer disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD DNA:SNP:exon 9: 288G>A, p.G388R (human) PMID:15448004|REF_RGD_ID:150429969 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer ameliorates ISO RGD:736644 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer severity ISO RGD:736644 D RGD:9068941 20211022 RGD DNA:SNP:exon 9: p.G388R (human) PMID:20844967|REF_RGD_ID:150520039 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer severity ISO RGD:736644 D RGD:9068941 20211022 RGD protein:increased expression:stomach, cytoplasm (human) PMID:21567388|REF_RGD_ID:150520025 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:10534 stomach cancer treatment ISO RGD:736644 D RGD:9068941 20211029 RGD PMID:32973082|REF_RGD_ID:150520068 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:14748 Sotos syndrome ISO RGD:736644 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:219 colon cancer treatment ISO RGD:736644 D RGD:9068941 20211029 RGD human cells in mouse model PMID:17599042|REF_RGD_ID:150520062 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3247 rhabdomyosarcoma ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:19809159|PMID:24124571 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:736644 D RGD:9068941 20211022 RGD PMID:25989802|REF_RGD_ID:150520041 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD human cells in mouse model PMID:29402970|REF_RGD_ID:150429984 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD mRNA, protein:increased expression:lung (human) PMID:26045670|REF_RGD_ID:150429970 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:736644 D RGD:9068941 20211008 RGD DNA:SNP:exon 9: p.G3888R (rs351855) (human) PMID:23524567|REF_RGD_ID:150429982 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD DNA:SNP:exon 9: p.G388R (human) PMID:16061909|REF_RGD_ID:150429976 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:736644 D RGD:9068941 20211008 RGD human cells in mouse model PMID:29402970|REF_RGD_ID:150429984 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:736644 D RGD:9068941 20220520 RGD DNA:SNP:exon 9: p.G388R (rs351855)(human) PMID:19296538|REF_RGD_ID:150429981 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:5082 liver cirrhosis ISO RGD:736644 D RGD:9068941 20211022 RGD associated with hepatocellular carcinoma; DNA:SNP:cds: p.G388R (rs351855) (human) PMID:25860955|REF_RGD_ID:11057080 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:736644 D RGD:9068941 20211022 RGD DNA:SNP:exon 9: p.G388R (human) PMID:17084840|REF_RGD_ID:150520023 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:630 genetic disease ISO RGD:736644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:736644 D RGD:9068941 20211029 RGD PMID:32677805|REF_RGD_ID:150520166 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:8567 Hodgkin's lymphoma ISO RGD:736644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:32934698 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15448004 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer progression and tumor cell motility PMID:11830541|PMID:25741868|PMID:26675719|PMID:33116287 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:736644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:19946327 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9256 colorectal cancer ISO RGD:736644 D RGD:9068941 20211029 RGD protein:increased expression:colorectum (human) PMID:24503538|REF_RGD_ID:150520155 8849227 Fgfr4 fibroblast growth factor receptor 4 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:736644 D RGD:9068941 20211029 RGD protein:increased expression:nasopharynx (human) PMID:26535066|REF_RGD_ID:150520063 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220225 RGD PMID:24762957|REF_RGD_ID:151361157 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:735716 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220303 RGD PMID:23516127|REF_RGD_ID:151361211 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:0080899 lung pleomorphic carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220303 RGD PMID:30300664|REF_RGD_ID:151361288 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:10534 stomach cancer ISO RGD:735716 D RGD:9068941 20220623 RGD protein:increased expression:stomach (human) PMID:23116296|REF_RGD_ID:152995461 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:1059 intellectual disability ISO RGD:735716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:2671 transitional cell carcinoma ISO RGD:3073 D RGD:9068941 20220224 RGD protein:increased expression:bladder PMID:28339760|REF_RGD_ID:151361118 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220303 RGD PMID:22110199|REF_RGD_ID:151361206 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735716 D RGD:9068941 20220623 RGD DNA:SNP:5'utr: (rs105929) (human) PMID:24782339|REF_RGD_ID:152995443 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:3908 lung non-small cell carcinoma sexual_dimorphism ISO RGD:735716 D RGD:9068941 20220623 RGD protein:increased expression:lung (human) PMID:25084765|REF_RGD_ID:152995442 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220225 RGD PMID:19171406|REF_RGD_ID:151361151 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:735716 D RGD:9068941 20220623 RGD mRNA:increased expression:stomach (human) PMID:29179459|REF_RGD_ID:152995459 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:630 genetic disease ISO RGD:735716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735716 D RGD:9068941 20220303 RGD PMID:19018776|REF_RGD_ID:151361278 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:735716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26621329 8849262 Slc3a2 solute carrier family 3 member 2 gene DOID:9006618 Liver Metastasis severity ISO RGD:3073 D RGD:9068941 20220224 RGD associated with colon adenocarcinoma PMID:11745822|REF_RGD_ID:151361130 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0050700 cardiomyopathy ameliorates ISO RGD:735347 D RGD:9068941 20231118 RGD PMID:30629164|REF_RGD_ID:401900736 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0050700 cardiomyopathy severity ISO RGD:735346 D RGD:9068941 20231118 RGD associated with obesity; PMID:30629164|REF_RGD_ID:401900736 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735346 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:13139 crescentic glomerulonephritis ISO RGD:2945 D RGD:9068941 20210108 RGD PMID:18443593|REF_RGD_ID:2293336 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:2921 glomerulonephritis ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18443593 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2945 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:5082 liver cirrhosis ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133482 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:735346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:735346 D RGD:9068941 20220728 RGD associated with HBV;protein:increased expression:liver (human) PMID:15927205|REF_RGD_ID:153297768 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17898221 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:735346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8849285 Jund JunD proto-oncogene, AP-1 transcription factor subunit gene DOID:9970 obesity ISO RGD:735347 D RGD:9068941 20231118 RGD mRNA,protein:increased expression:heart PMID:30629164|REF_RGD_ID:401900736 8849290 Arl2bp ADP ribosylation factor like GTPase 2 binding protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344137 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8849290 Arl2bp ADP ribosylation factor like GTPase 2 binding protein gene DOID:0110419 retinitis pigmentosa with or without situs inversus ISO RGD:1344137 D RGD:7240710 20180130 OMIM 8849290 Arl2bp ADP ribosylation factor like GTPase 2 binding protein gene DOID:0110419 retinitis pigmentosa with or without situs inversus ISO RGD:1344137 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: ARL2BP-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus PMID:17576681|PMID:23849777|PMID:25741868|PMID:27790702|PMID:28041643|PMID:28492532|PMID:30210231|PMID:32581362|PMID:34906502|PMID:9536098 8849290 Arl2bp ADP ribosylation factor like GTPase 2 binding protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344137 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8849290 Arl2bp ADP ribosylation factor like GTPase 2 binding protein gene DOID:10584 retinitis pigmentosa ISO RGD:1344137 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:23849777|PMID:25741868|PMID:27790702|PMID:36909829 8849290 Arl2bp ADP ribosylation factor like GTPase 2 binding protein gene DOID:12336 male infertility ISO RGD:1616652 D RGD:9068941 20220825 MouseDO 8849290 Arl2bp ADP ribosylation factor like GTPase 2 binding protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8849290 Arl2bp ADP ribosylation factor like GTPase 2 binding protein gene DOID:630 genetic disease ISO RGD:1344137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8849290 Arl2bp ADP ribosylation factor like GTPase 2 binding protein gene DOID:8501 fundus dystrophy ISO RGD:1344137 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:27790702|PMID:28041643|PMID:28492532|PMID:30210231|PMID:32581362 8849300 Lrrc25 leucine rich repeat containing 25 gene DOID:630 genetic disease ISO RGD:1352396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849300 Lrrc25 leucine rich repeat containing 25 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1352396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8849354 Sik3 SIK family kinase 3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8849354 Sik3 SIK family kinase 3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8849354 Sik3 SIK family kinase 3 gene DOID:0080690 RASopathy ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8849354 Sik3 SIK family kinase 3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8849354 Sik3 SIK family kinase 3 gene DOID:0111123 nephronophthisis 15 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8849354 Sik3 SIK family kinase 3 gene DOID:0111971 immunodeficiency 18 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8849354 Sik3 SIK family kinase 3 gene DOID:0111972 immunodeficiency 19 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8849354 Sik3 SIK family kinase 3 gene DOID:0111973 immunodeficiency 17 ISO RGD:1603681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8849354 Sik3 SIK family kinase 3 gene DOID:1059 intellectual disability ISO RGD:1603681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8849354 Sik3 SIK family kinase 3 gene DOID:630 genetic disease ISO RGD:1603681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849354 Sik3 SIK family kinase 3 gene DOID:9000975 Spondyloepimetaphyseal Dysplasia, Krakow Type ISO RGD:1603681 D RGD:7240710 20190315 OMIM 8849354 Sik3 SIK family kinase 3 gene DOID:9000975 Spondyloepimetaphyseal Dysplasia, Krakow Type ISO RGD:1603681 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Krakow type PMID:25741868|PMID:28492532|PMID:30232230 8849354 Sik3 SIK family kinase 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8849354 Sik3 SIK family kinase 3 gene DOID:9007661 Dwarfism ISO RGD:1603681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8849381 Znf292 zinc finger protein 292 gene DOID:1059 intellectual disability ISO RGD:1354082 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25363760|PMID:25741868|PMID:28492532|PMID:31723249|PMID:35322241 8849381 Znf292 zinc finger protein 292 gene DOID:12849 autistic disorder ISO RGD:1354082 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868 8849381 Znf292 zinc finger protein 292 gene DOID:1826 epilepsy ISO RGD:1354082 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8849381 Znf292 zinc finger protein 292 gene DOID:630 genetic disease ISO RGD:1354082 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31723249|PMID:35322241 8849381 Znf292 zinc finger protein 292 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 8849381 Znf292 zinc finger protein 292 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354082 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: ZNF292-related neurodevelopmental condition PMID:25363760|PMID:25741868|PMID:27824329|PMID:28492532|PMID:30564305|PMID:31723249|PMID:35322241 8849381 Znf292 zinc finger protein 292 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:1354082 D RGD:7240710 20210303 OMIM 8849381 Znf292 zinc finger protein 292 gene DOID:9005687 Autosomal Dominant Intellectual Developmental Disorder 64 ISO RGD:1354082 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 64 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 64 | ClinVar Annotator: match by term: ZNF292-related condition PMID:25363760|PMID:25741868|PMID:27824329|PMID:28492532|PMID:28808027|PMID:29758562|PMID:30564305|PMID:31723249|PMID:35322241 8849381 Znf292 zinc finger protein 292 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1354082 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868 8849381 Znf292 zinc finger protein 292 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25559195 8849398 Rlim ring finger protein, LIM domain interacting gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1352466 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25735484|PMID:25741868 8849398 Rlim ring finger protein, LIM domain interacting gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8849398 Rlim ring finger protein, LIM domain interacting gene DOID:0112042 Tonne-Kalscheuer syndrome ISO RGD:1352466 D RGD:7240710 20190315 OMIM 8849398 Rlim ring finger protein, LIM domain interacting gene DOID:0112042 Tonne-Kalscheuer syndrome ISO RGD:1352466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RLIM-related syndromic intellectual disability | ClinVar Annotator: match by term: TONNE-KALSCHEUER SYNDROME PMID:25644381|PMID:25735484|PMID:25741868|PMID:29728705|PMID:29742418 8849398 Rlim ring finger protein, LIM domain interacting gene DOID:10283 prostate cancer ISO RGD:1352466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8849398 Rlim ring finger protein, LIM domain interacting gene DOID:12849 autistic disorder ISO RGD:1352466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8849398 Rlim ring finger protein, LIM domain interacting gene DOID:630 genetic disease ISO RGD:1352466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25644381|PMID:25735484|PMID:29728705|PMID:29742418|PMID:33255631 8849398 Rlim ring finger protein, LIM domain interacting gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8849398 Rlim ring finger protein, LIM domain interacting gene DOID:9008086 Developmental Disabilities ISO RGD:1352466 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25735484|PMID:25741868 8849411 Tspan1 tetraspanin 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:30961548|PMID:34324503|PMID:9536098 8849411 Tspan1 tetraspanin 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:17878207|PMID:18195152|PMID:18691338|PMID:19067344|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:27493216|PMID:27884173|PMID:28492532|PMID:28688748|PMID:30961548|PMID:34324503 8849411 Tspan1 tetraspanin 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 8849411 Tspan1 tetraspanin 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 8849411 Tspan1 tetraspanin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8849411 Tspan1 tetraspanin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8849411 Tspan1 tetraspanin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8849411 Tspan1 tetraspanin 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18330676|PMID:19299310|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:22323514|PMID:22522420|PMID:23326386|PMID:23689641|PMID:23894383|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:29302074|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426 8849411 Tspan1 tetraspanin 1 gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1354320 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31872526|PMID:32115343|PMID:32404165|PMID:33077954|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:36819107|PMID:9536098 8849411 Tspan1 tetraspanin 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1354320 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:17878207|PMID:25741868|PMID:28492532 8849411 Tspan1 tetraspanin 1 gene DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A ISO RGD:1354320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies PMID:11709191|PMID:12588800|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17559086|PMID:17878207|PMID:17881266|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:23326386|PMID:25741868|PMID:26013959|PMID:26908613|PMID:27391550|PMID:28492532 8849411 Tspan1 tetraspanin 1 gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1354320 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:34324503|PMID:9536098 8849411 Tspan1 tetraspanin 1 gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1354320 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:34324503|PMID:36819107|PMID:9536098 8849411 Tspan1 tetraspanin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8849411 Tspan1 tetraspanin 1 gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1354320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24282183|PMID:24731844|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 8849411 Tspan1 tetraspanin 1 gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1354320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 8849411 Tspan1 tetraspanin 1 gene DOID:1059 intellectual disability ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:25741868|PMID:28492532 8849411 Tspan1 tetraspanin 1 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy 8849411 Tspan1 tetraspanin 1 gene DOID:630 genetic disease ISO RGD:1354320 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466003|PMID:17576681|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:22554691|PMID:22819665|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29096039|PMID:29555514|PMID:9536098 8849411 Tspan1 tetraspanin 1 gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1354320 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 76 PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28832562|PMID:36819107|PMID:9536098 8849411 Tspan1 tetraspanin 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1354320 D RGD:9068941 20200609 RGD PMID:12115476|REF_RGD_ID:1331679 8849411 Tspan1 tetraspanin 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 8849411 Tspan1 tetraspanin 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1354320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8849411 Tspan1 tetraspanin 1 gene DOID:9281 phenylketonuria ISO RGD:1354320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 8849424 Jmy junction mediating and regulatory protein, p53 cofactor gene DOID:630 genetic disease ISO RGD:1603907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849424 Jmy junction mediating and regulatory protein, p53 cofactor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8849439 Fbxo31 F-box protein 31 gene DOID:0050669 spastic cerebral palsy ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic cerebral palsy PMID:32989326|PMID:33675180 8849439 Fbxo31 F-box protein 31 gene DOID:0070124 congenital nongoitrous hypothyroidism 2 ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopic thyroid PMID:32989326|PMID:33675180 8849439 Fbxo31 F-box protein 31 gene DOID:0081209 autosomal recessive intellectual developmental disorder 45 ISO RGD:1351564 D RGD:7240710 20180130 OMIM 8849439 Fbxo31 F-box protein 31 gene DOID:0081209 autosomal recessive intellectual developmental disorder 45 ISO RGD:1351564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 45 PMID:25741868|PMID:32989326|PMID:33675180 8849439 Fbxo31 F-box protein 31 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8849439 Fbxo31 F-box protein 31 gene DOID:14780 KBG syndrome ISO RGD:1351564 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8849439 Fbxo31 F-box protein 31 gene DOID:630 genetic disease ISO RGD:1351564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849439 Fbxo31 F-box protein 31 gene DOID:8433 thyroid malformation ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopic thyroid PMID:32989326|PMID:33675180 8849439 Fbxo31 F-box protein 31 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1351564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8849452 Naa35 N-alpha-acetyltransferase 35, NatC auxiliary subunit gene DOID:630 genetic disease ISO RGD:1347911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8849488 Cbx6 chromobox 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8849488 Cbx6 chromobox 6 gene DOID:3068 glioblastoma disease_progression ISO RGD:1316437 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:astrocyte: PMID:24260522|REF_RGD_ID:9587354 8849488 Cbx6 chromobox 6 gene DOID:630 genetic disease ISO RGD:1316437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157164 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1347335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1347335 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:23948885|REF_RGD_ID:10413860 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:10762 portal hypertension ISO RGD:631409 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach (rat) PMID:19383083|REF_RGD_ID:5686823 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:219 colon cancer ISO RGD:1347335 D RGD:9068941 20220811 RGD protein:increased expression:colon (human) PMID:16774932|REF_RGD_ID:153305944 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:2773 contact dermatitis ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1347335 D RGD:9068941 20220519 RGD protein:increased expression:liver (human) PMID:24796583|REF_RGD_ID:152177907 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:630 genetic disease ISO RGD:1347335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1347335 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood leukocyte: PMID:21417552|REF_RGD_ID:10402843 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1347335 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:frontal cortex (human) PMID:20886841|REF_RGD_ID:10412651 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1347335 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood (human) PMID:16139532|REF_RGD_ID:10429075 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1553279 D RGD:9068941 20200609 RGD mRNA:increased expression:tibial plateaux (mouse) PMID:9497939|REF_RGD_ID:10412655 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1347335 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:23948885|REF_RGD_ID:10413860 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:631409 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (rat) PMID:21104931|REF_RGD_ID:5686396 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9008138 Ductal Carcinoma ISO RGD:631409 D RGD:9068941 20200609 RGD PMID:19322027|REF_RGD_ID:5686847 8849507 Hsp90aa1 heat shock protein 90 alpha family class A member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347335 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:0050742 nicotine dependence treatment ISO RGD:2848 D RGD:9068941 20231207 RGD PMID:22342986|REF_RGD_ID:401901205 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:0060001 withdrawal disorder ISO RGD:2848 D RGD:9068941 20231130 RGD mRNA:decreased editing:hippocampus PMID:26031442|REF_RGD_ID:401901090 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:0060001 withdrawal disorder ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17105947 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:10283 prostate cancer ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:11983 Prader-Willi syndrome ISO RGD:10748 D RGD:9068941 20220825 MouseDO OMIM:176270 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:12849 autistic disorder ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:1470 major depressive disorder treatment ISO RGD:2848 D RGD:9068941 20200609 RGD mRNA:increased editing PMID:16005997|REF_RGD_ID:1624993 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:1574 alcohol use disorder treatment ISO RGD:2848 D RGD:9068941 20231123 RGD PMID:24041931|REF_RGD_ID:401900761 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:2030 anxiety disorder ISO RGD:2848 D RGD:9068941 20200609 RGD PMID:17074317|REF_RGD_ID:1625000 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:303 substance-related disorder ISO RGD:2848 D RGD:9068941 20200609 RGD PMID:16474401|REF_RGD_ID:2292548 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:3312 bipolar disorder ISO RGD:736842 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C23S (human) PMID:8823764|REF_RGD_ID:1358737 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:5419 schizophrenia ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:5419 schizophrenia treatment ISO RGD:736842 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C23S (human) PMID:8742444|REF_RGD_ID:1358736 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:630 genetic disease ISO RGD:736842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:809 cocaine abuse treatment ISO RGD:2848 D RGD:9068941 20231130 RGD PMID:20814782|REF_RGD_ID:401901179 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9000641 Pain ISO RGD:2848 D RGD:9068941 20200609 RGD PMID:17451674|REF_RGD_ID:1624996 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2848 D RGD:9068941 20200609 RGD protein:increased expression:brainstem, cerebral cortex PMID:17258772|REF_RGD_ID:1624998 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9002362 Hyperkinesis ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19347958 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9004657 Weight Gain ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19434072|PMID:19997080 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9005968 Neuralgia ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28011743 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9006646 Metabolic Syndrome ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632216|PMID:18515891|PMID:19142101 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9352 type 2 diabetes mellitus ISO RGD:10748 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9970 obesity ISO RGD:736842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17702092|PMID:19142110 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9970 obesity susceptibility ISO RGD:736842 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-759C>T PMID:15048662|REF_RGD_ID:1624991 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9970 obesity susceptibility ISO RGD:736842 D RGD:9068941 20200609 RGD associated with Schizophrenia and Psychotic Disorders;DNA:polymorphisms:promoter:multiple PMID:17016522|REF_RGD_ID:1624982 8849525 Htr2c 5-hydroxytryptamine receptor 2C gene DOID:9975 cocaine dependence treatment ISO RGD:2848 D RGD:9068941 20231118 RGD PMID:23336050|REF_RGD_ID:401900743 8849562 Enho energy homeostasis associated gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1603336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8849562 Enho energy homeostasis associated gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1603336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8849562 Enho energy homeostasis associated gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1603336 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8849562 Enho energy homeostasis associated gene DOID:0080942 anauxetic dysplasia ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8849562 Enho energy homeostasis associated gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1603336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8849562 Enho energy homeostasis associated gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8849562 Enho energy homeostasis associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603336 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8849562 Enho energy homeostasis associated gene DOID:9870 galactosemia ISO RGD:1603336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8849575 Adprm ADP-ribose/CDP-alcohol diphosphatase, manganese dependent gene DOID:630 genetic disease ISO RGD:1604325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080016 spina bifida ISO RGD:732147 D RGD:9068941 20200609 RGD PMID:9611072|REF_RGD_ID:1600190 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080074 neural tube defect ISO RGD:732147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12384833|PMID:16552426 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080074 neural tube defect ISO RGD:732147 D RGD:9068941 20200609 RGD PMID:16315005|REF_RGD_ID:1600189 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080074 neural tube defect susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A (rs2236225)(human) PMID:25524527|REF_RGD_ID:11086705 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:0080633 developmental cardiac valvular defect susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R653Q(c.1958G>A)(human) PMID:18767138|REF_RGD_ID:12910957 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:14250 Down syndrome ISO RGD:732147 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15068241|REF_RGD_ID:12914150 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:14250 Down syndrome no_association ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A(human) PMID:22339736|REF_RGD_ID:12910960 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:14250 Down syndrome susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958 G>A (rs2236225)(human) PMID:25671679|REF_RGD_ID:12910959 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:627 severe combined immunodeficiency ISO RGD:732147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:21813566|PMID:23296427|PMID:23402911|PMID:25548164|PMID:25633902|PMID:25741868|PMID:27707659|PMID:28492532|PMID:31203817|PMID:31589614|PMID:32414565 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:630 genetic disease ISO RGD:732147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.R653Q(c.1958G>A)(human) PMID:18767138|REF_RGD_ID:12910957 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:674 cleft palate susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958 G>A (rs2236225)(human) PMID:18661527|REF_RGD_ID:12914151 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:7693 abdominal aortic aneurysm susceptibility ISO RGD:732147 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes:intron: (rs8003379) (human) PMID:18635682|REF_RGD_ID:329853746 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:732147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MTHFD1-related condition | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to | ClinVar Annotator: match by term: Spina bifida, folate-sensitive, susceptibility to PMID:15633187|PMID:16315005|PMID:16552426|PMID:17894836|PMID:18277167|PMID:24033266|PMID:25741868|PMID:28492532 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9001989 Folate-Sensitive Neural Tube Defects susceptibility ISO RGD:732147 D RGD:7240710 20240313 OMIM 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:732148 D RGD:9068941 20200609 RGD PMID:22378735|REF_RGD_ID:12910955 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP: :401A>G(human) PMID:25118499|REF_RGD_ID:12910958 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A(human) PMID:18771981|REF_RGD_ID:12914148 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9009055 Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia ISO RGD:732147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia PMID:11004530|PMID:15633187|PMID:16199547|PMID:16315005|PMID:16552426|PMID:17894836|PMID:18277167|PMID:21813566|PMID:23296427|PMID:23402911|PMID:24033266|PMID:25548164|PMID:25633902|PMID:25741868|PMID:27707659|PMID:28492532|PMID:31203817|PMID:31589614|PMID:32414565 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9009055 Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia susceptibility ISO RGD:732147 D RGD:7240710 20240313 OMIM 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9296 cleft lip no_association ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A(human) PMID:18261183|REF_RGD_ID:12910962 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9296 cleft lip susceptibility ISO RGD:732147 D RGD:9068941 20200609 RGD DNA:SNP:cds:1958G>A(human) PMID:25129243|REF_RGD_ID:12910961 8849587 Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 gene DOID:9667 placental abruption ISO RGD:732147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15633187 8849622 Selenok selenoprotein K gene DOID:630 genetic disease ISO RGD:1603383 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849623 Tasp1 taspase 1 gene DOID:630 genetic disease ISO RGD:1318453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849623 Tasp1 taspase 1 gene DOID:9000991 SULEIMAN-EL-HATTAB SYNDROME ISO RGD:1318453 D RGD:7240710 20201118 OMIM 8849623 Tasp1 taspase 1 gene DOID:9000991 SULEIMAN-EL-HATTAB SYNDROME ISO RGD:1318453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Suleiman-El-Hattab syndrome PMID:25741868|PMID:29633245|PMID:31209944 8849623 Tasp1 taspase 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1318453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:25741868|PMID:29633245|PMID:31209944 8849623 Tasp1 taspase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:31209944 8849641 Atg13 autophagy related 13 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1602498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8849641 Atg13 autophagy related 13 gene DOID:10283 prostate cancer ISO RGD:1602498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8849641 Atg13 autophagy related 13 gene DOID:1059 intellectual disability ISO RGD:1602498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8849641 Atg13 autophagy related 13 gene DOID:630 genetic disease ISO RGD:1602498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849641 Atg13 autophagy related 13 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1332180 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 8849692 Tmc5 transmembrane channel like 5 gene DOID:630 genetic disease ISO RGD:1315994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849732 Msi2 musashi RNA binding protein 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352746 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8849732 Msi2 musashi RNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1352746 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8849732 Msi2 musashi RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1352746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849789 Ano5 anoctamin 5 gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Miyoshi myopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32367299 8849789 Ano5 anoctamin 5 gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1342534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Miyoshi myopathy PMID:17576681|PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32367299|PMID:9536098 8849789 Ano5 anoctamin 5 gene DOID:0070201 Miyoshi muscular dystrophy 3 ISO RGD:1342534 D RGD:7240710 20180130 OMIM 8849789 Ano5 anoctamin 5 gene DOID:0070201 Miyoshi muscular dystrophy 3 ISO RGD:1342534 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3 PMID:17132147|PMID:18414213|PMID:20096397|PMID:20692837|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:26810512|PMID:26838040|PMID:26886200|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28489263|PMID:28492532|PMID:28888072|PMID:29431110|PMID:30564623|PMID:30919934|PMID:31341644|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31561939|PMID:31589614|PMID:31931849|PMID:32112655|PMID:32367299|PMID:32403337|PMID:32528171|PMID:32925086|PMID:33496727|PMID:33963534|PMID:34008892|PMID:36913258|PMID:9673985 8849789 Ano5 anoctamin 5 gene DOID:0080000 muscular disease ISO RGD:1342534 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655|PMID:9673985 8849789 Ano5 anoctamin 5 gene DOID:0080322 polycystic kidney disease ISO RGD:1342534 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Kidney, Polycystic PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:9673985 8849789 Ano5 anoctamin 5 gene DOID:0080600 COVID-19 ISO RGD:1342534 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8849789 Ano5 anoctamin 5 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1342534 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:17008331|PMID:17576681|PMID:18414213|PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23606453|PMID:23607914|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24843231|PMID:24889862|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:26809617|PMID:26886200|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31350120|PMID:31353849|PMID:31395899|PMID:32112655|PMID:32367299|PMID:32399949|PMID:32403337|PMID:32528171|PMID:32925086|PMID:33496727|PMID:36913258|PMID:9536098|PMID:9673985 8849789 Ano5 anoctamin 5 gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1342534 D RGD:7240710 20180130 OMIM 8849789 Ano5 anoctamin 5 gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1342534 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L PMID:16199547|PMID:17008331|PMID:17132147|PMID:17576681|PMID:18414213|PMID:20096397|PMID:20692837|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23169617|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25326637|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:26809617|PMID:26810512|PMID:26838040|PMID:26886200|PMID:26911675|PMID:27066573|PMID:27447704|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27884173|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28489263|PMID:28492532|PMID:28888072|PMID:29382405|PMID:29431110|PMID:30564623|PMID:30919934|PMID:31341644|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31517061|PMID:31561939|PMID:31589614|PMID:31791368|PMID:31862442|PMID:31931849|PMID:32112655|PMID:32367299|PMID:32399949|PMID:32403337|PMID:32419263|PMID:32528171|PMID:32819793|PMID:32925086|PMID:33023636|PMID:33400223|PMID:33496727|PMID:34008892|PMID:35239206|PMID:35563815|PMID:36157496|PMID:36352632|PMID:36913258|PMID:9536098|PMID:9673985 8849789 Ano5 anoctamin 5 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1342534 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27447704|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655|PMID:9673985 8849789 Ano5 anoctamin 5 gene DOID:0111533 gnathodiaphyseal dysplasia ISO RGD:1342534 D RGD:7240710 20180130 OMIM 8849789 Ano5 anoctamin 5 gene DOID:0111533 gnathodiaphyseal dysplasia ISO RGD:1342534 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions PMID:15124103|PMID:16199547|PMID:17008331|PMID:17132147|PMID:17576681|PMID:18414213|PMID:20096397|PMID:20692837|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23047743|PMID:23169617|PMID:23193613|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:23757202|PMID:24022920|PMID:24033266|PMID:24232312|PMID:24239059|PMID:24803842|PMID:24843231|PMID:25046369|PMID:25135358|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26404900|PMID:26436962|PMID:26467025|PMID:26809617|PMID:26810512|PMID:26838040|PMID:26886200|PMID:26911675|PMID:27066573|PMID:27447704|PMID:27541832|PMID:27671536|PMID:27708273|PMID:27854218|PMID:27862037|PMID:27884173|PMID:27911336|PMID:28176803|PMID:28187523|PMID:28489263|PMID:28492532|PMID:28888072|PMID:29124309|PMID:29382405|PMID:29431110|PMID:29792937|PMID:30564623|PMID:30919934|PMID:31127727|PMID:31341644|PMID:31350120|PMID:31353849|PMID:31395899|PMID:31517061|PMID:31561939|PMID:31589614|PMID:31791368|PMID:31862442|PMID:31931849|PMID:32112655|PMID:32367299|PMID:32399949|PMID:32403337|PMID:32419263|PMID:32528171|PMID:32819793|PMID:32925086|PMID:33023636|PMID:33400223|PMID:33496727|PMID:33963534|PMID:34008892|PMID:34440373|PMID:35239206|PMID:3530687|PMID:35563815|PMID:35741838|PMID:36157496|PMID:36352632|PMID:36913258|PMID:5816667|PMID:9536098|PMID:9673985 8849789 Ano5 anoctamin 5 gene DOID:1059 intellectual disability ISO RGD:1342534 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30919934|PMID:9673985 8849789 Ano5 anoctamin 5 gene DOID:11720 distal myopathy ISO RGD:1342534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:22499103|PMID:25741868|PMID:25891276|PMID:26886200|PMID:27447704|PMID:27911336|PMID:28492532|PMID:30564623|PMID:30919934 8849789 Ano5 anoctamin 5 gene DOID:11720 distal myopathy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:22499103|PMID:25741868|PMID:26886200|PMID:27447704|PMID:27911336|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655 8849789 Ano5 anoctamin 5 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1342534 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:23606453|PMID:24022920|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31395899|PMID:32399949|PMID:32403337|PMID:32528171 8849789 Ano5 anoctamin 5 gene DOID:423 myopathy ISO RGD:1342534 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Myopathy PMID:20096397|PMID:21186264|PMID:21739273|PMID:21820307|PMID:22194990|PMID:22336395|PMID:22402862|PMID:22499103|PMID:22742934|PMID:22980763|PMID:23041008|PMID:23606453|PMID:23607914|PMID:23757202|PMID:24022920|PMID:24232312|PMID:24843231|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26886200|PMID:27708273|PMID:27911336|PMID:28187523|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31395899|PMID:32112655|PMID:9673985 8849789 Ano5 anoctamin 5 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1342534 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:20096397|PMID:22402862|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23606453|PMID:23663589|PMID:23670307|PMID:24033266|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26810512|PMID:28176803|PMID:28492532|PMID:30919934|PMID:31353849|PMID:31931849|PMID:32367299|PMID:32403337|PMID:32528171 8849789 Ano5 anoctamin 5 gene DOID:630 genetic disease ISO RGD:1342534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23606453|PMID:25741868|PMID:28492532 8849789 Ano5 anoctamin 5 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1342534 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency PMID:20096397|PMID:22402862|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23606453|PMID:23663589|PMID:23670307|PMID:24033266|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26810512|PMID:28176803|PMID:28492532|PMID:30919934|PMID:31353849|PMID:31931849|PMID:32367299|PMID:32403337|PMID:32528171 8849789 Ano5 anoctamin 5 gene DOID:9884 muscular dystrophy ISO RGD:1342534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934 8849822 Kif3b kinesin family member 3B gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1315643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 8849822 Kif3b kinesin family member 3B gene DOID:0112146 retinitis pigmentosa 89 ISO RGD:1315643 D RGD:7240710 20200722 OMIM 8849822 Kif3b kinesin family member 3B gene DOID:0112146 retinitis pigmentosa 89 ISO RGD:1315643 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 89 PMID:25741868|PMID:32386558 8849822 Kif3b kinesin family member 3B gene DOID:14228 oligospermia ISO RGD:1315643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligospermia 8849822 Kif3b kinesin family member 3B gene DOID:5419 schizophrenia ISO RGD:1315644 D RGD:9068941 20220825 MouseDO OMIM:181500 8849822 Kif3b kinesin family member 3B gene DOID:630 genetic disease ISO RGD:1315643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849822 Kif3b kinesin family member 3B gene DOID:9000039 Spinal Cord Injuries ISO RGD:1306815 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23093447|REF_RGD_ID:11049594 8849840 Prkcz protein kinase C zeta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8849840 Prkcz protein kinase C zeta gene DOID:0060041 autism spectrum disorder ISO RGD:736361 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8849840 Prkcz protein kinase C zeta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8849840 Prkcz protein kinase C zeta gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8849840 Prkcz protein kinase C zeta gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8849840 Prkcz protein kinase C zeta gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8849840 Prkcz protein kinase C zeta gene DOID:0110994 Joubert syndrome 25 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8849840 Prkcz protein kinase C zeta gene DOID:0111934 immunodeficiency 38 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8849840 Prkcz protein kinase C zeta gene DOID:0111935 immunodeficiency 16 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8849840 Prkcz protein kinase C zeta gene DOID:1240 leukemia ISO RGD:736361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 8849840 Prkcz protein kinase C zeta gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8849840 Prkcz protein kinase C zeta gene DOID:4195 hyperglycemia ISO RGD:3399 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation, increased activity:soleus muscle PMID:12960081|REF_RGD_ID:1642528 8849840 Prkcz protein kinase C zeta gene DOID:630 genetic disease ISO RGD:736361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849840 Prkcz protein kinase C zeta gene DOID:9002211 Hyperalgesia ISO RGD:736361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27899695 8849840 Prkcz protein kinase C zeta gene DOID:9002304 Prostatic Neoplasms ISO RGD:736361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16931574 8849840 Prkcz protein kinase C zeta gene DOID:9003936 Cardiomegaly ISO RGD:736361 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27094369 8849840 Prkcz protein kinase C zeta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8849840 Prkcz protein kinase C zeta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3399 D RGD:9068941 20200609 RGD PMID:16900949|REF_RGD_ID:1581275 8849840 Prkcz protein kinase C zeta gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:736361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8849840 Prkcz protein kinase C zeta gene DOID:9007692 Insulin Resistance ISO RGD:736361 D RGD:9068941 20200609 RGD protein::skeletal muscle:reduced response to insulin in obese and diabetic subjects PMID:12882908|REF_RGD_ID:1642650 8849840 Prkcz protein kinase C zeta gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:736361 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8849840 Prkcz protein kinase C zeta gene DOID:9352 type 2 diabetes mellitus ISO RGD:3399 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver,pancreas: PMID:26398746|REF_RGD_ID:13506804 8849871 Pdzk1ip1 PDZK1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:737282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849871 Pdzk1ip1 PDZK1 interacting protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8849891 Nyap2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 gene DOID:630 genetic disease ISO RGD:2311477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849891 Nyap2 neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2311477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8849903 Cldn18 claudin 18 gene DOID:11372 megacolon ISO RGD:1351425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8849903 Cldn18 claudin 18 gene DOID:2841 asthma ISO RGD:1351425 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:27215490 8849903 Cldn18 claudin 18 gene DOID:630 genetic disease ISO RGD:1351425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849921 Ing1 inhibitor of growth family member 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1314890 D RGD:9068941 20200609 RGD squamous cell carcinoma of the head and neck, OMIM:275355 DNA:point_mutation:CDS:G->C in exon 2, amino acid cys215ser PMID:10866301|REF_RGD_ID:1600155 8849921 Ing1 inhibitor of growth family member 1 gene DOID:2222 factor X deficiency ISO RGD:1314890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8849921 Ing1 inhibitor of growth family member 1 gene DOID:2773 contact dermatitis ISO RGD:1314890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8849921 Ing1 inhibitor of growth family member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314890 D RGD:7240710 20180130 OMIM 8849921 Ing1 inhibitor of growth family member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1314890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10866301 8849921 Ing1 inhibitor of growth family member 1 gene DOID:630 genetic disease ISO RGD:1314890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849921 Ing1 inhibitor of growth family member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8849921 Ing1 inhibitor of growth family member 1 gene DOID:9000918 Disease Progression ISO RGD:1314890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8849921 Ing1 inhibitor of growth family member 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1314890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8849926 Agt angiotensinogen gene DOID:0050589 inflammatory bowel disease ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T (human) PMID:20717043|REF_RGD_ID:11039049 8849926 Agt angiotensinogen gene DOID:0050700 cardiomyopathy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 8849926 Agt angiotensinogen gene DOID:0060224 atrial fibrillation ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:promoter:multiple PMID:18239384|REF_RGD_ID:8548862 8849926 Agt angiotensinogen gene DOID:0060903 thrombosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11881036|PMID:21501650 8849926 Agt angiotensinogen gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:731070 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 8849926 Agt angiotensinogen gene DOID:0080322 polycystic kidney disease ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:20798958|REF_RGD_ID:12879406 8849926 Agt angiotensinogen gene DOID:0080600 COVID-19 ISO RGD:731070 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32048163 8849926 Agt angiotensinogen gene DOID:10591 pre-eclampsia ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Preeclampsia, susceptibility to PMID:1394429|PMID:16059745|PMID:25741868|PMID:28492532|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9259580|PMID:9421481|PMID:9831339 8849926 Agt angiotensinogen gene DOID:10603 glucose intolerance ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26704350 8849926 Agt angiotensinogen gene DOID:10652 Alzheimer's disease ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:21297254|REF_RGD_ID:5129180 8849926 Agt angiotensinogen gene DOID:1073 renal hypertension ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8763405 8849926 Agt angiotensinogen gene DOID:1074 kidney failure ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9259580 8849926 Agt angiotensinogen gene DOID:10763 hypertension ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertension PMID:1394429|PMID:16059745|PMID:25741868|PMID:28492532|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9259580|PMID:9421481|PMID:9831339 8849926 Agt angiotensinogen gene DOID:10763 hypertension no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-6G>A, p.M235T, p.T174M PMID:16514903|REF_RGD_ID:1601143 8849926 Agt angiotensinogen gene DOID:10763 hypertension susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T PMID:17334527|REF_RGD_ID:1601130 8849926 Agt angiotensinogen gene DOID:10763 hypertension susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-20C>A (human) PMID:17161775|REF_RGD_ID:1601139 8849926 Agt angiotensinogen gene DOID:10763 hypertension susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) PMID:16739866|REF_RGD_ID:1601141 8849926 Agt angiotensinogen gene DOID:10763 hypertension treatment ISO RGD:2069 D RGD:9068941 20230720 RGD PMID:19932924|PMID:33364953|REF_RGD_ID:329956421|REF_RGD_ID:8549469 8849926 Agt angiotensinogen gene DOID:10808 gastric ulcer treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:24231511|REF_RGD_ID:11039418 8849926 Agt angiotensinogen gene DOID:10824 malignant hypertension ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2493837|PMID:27428043 8849926 Agt angiotensinogen gene DOID:10825 essential hypertension ISO RGD:731070 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:12743009|PMID:13937884|PMID:1394429|PMID:15077204|PMID:16059745|PMID:17047091|PMID:20978123|PMID:24452034|PMID:25278896|PMID:25741868|PMID:28492532|PMID:35005812|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9120024|PMID:9259580|PMID:9421481|PMID:9831339|PMID:9894356 8849926 Agt angiotensinogen gene DOID:10907 microcephaly ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8849926 Agt angiotensinogen gene DOID:11049 meconium aspiration syndrome ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:14605247|REF_RGD_ID:11039054 8849926 Agt angiotensinogen gene DOID:11111 hydronephrosis ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:12399452|REF_RGD_ID:1300273 8849926 Agt angiotensinogen gene DOID:11111 hydronephrosis treatment ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:12399452|REF_RGD_ID:1300273 8849926 Agt angiotensinogen gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M235T (human) PMID:16521052|REF_RGD_ID:11039045 8849926 Agt angiotensinogen gene DOID:11123 Henoch-Schoenlein purpura severity ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T174M (human) PMID:20702504|REF_RGD_ID:11039055 8849926 Agt angiotensinogen gene DOID:11382 corneal neovascularization ISO RGD:10118 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cornea PMID:18829859|REF_RGD_ID:8548897 8849926 Agt angiotensinogen gene DOID:11396 pulmonary edema ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T (human) PMID:21393362|REF_RGD_ID:5129160 8849926 Agt angiotensinogen gene DOID:114 heart disease ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19373235 8849926 Agt angiotensinogen gene DOID:11446 sciatic neuropathy ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:20886512|REF_RGD_ID:5129198 8849926 Agt angiotensinogen gene DOID:11563 retinal vasculitis ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:19834028|REF_RGD_ID:11039401 8849926 Agt angiotensinogen gene DOID:11716 prediabetes syndrome ISO RGD:2069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA, protein:increased expression:kidney PMID:23322513|REF_RGD_ID:8549461 8849926 Agt angiotensinogen gene DOID:11984 hypertrophic cardiomyopathy no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) PMID:9270088|REF_RGD_ID:1566491 8849926 Agt angiotensinogen gene DOID:11984 hypertrophic cardiomyopathy susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.M235T(human) PMID:9023164|REF_RGD_ID:13432163 8849926 Agt angiotensinogen gene DOID:1205 allergic disease susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T (human) PMID:10200023|REF_RGD_ID:8142344 8849926 Agt angiotensinogen gene DOID:12185 otosclerosis ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M235T (human) PMID:18491423|REF_RGD_ID:8548860 8849926 Agt angiotensinogen gene DOID:12185 otosclerosis no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M235T (rs699) (human) PMID:19503013|REF_RGD_ID:8548871 8849926 Agt angiotensinogen gene DOID:12215 oligohydramnios ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anhydramnios PMID:25741868|PMID:35005812 8849926 Agt angiotensinogen gene DOID:12236 primary biliary cholangitis ISO RGD:2069 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17532087|REF_RGD_ID:9685452 8849926 Agt angiotensinogen gene DOID:12351 alcoholic hepatitis ISO RGD:731070 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:17258719|REF_RGD_ID:1601135 8849926 Agt angiotensinogen gene DOID:1287 cardiovascular system disease ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 8849926 Agt angiotensinogen gene DOID:1287 cardiovascular system disease no_association ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:8523390|REF_RGD_ID:1566492 8849926 Agt angiotensinogen gene DOID:12930 dilated cardiomyopathy no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.T174M, p.M235T (human) PMID:9270088|REF_RGD_ID:1566491 8849926 Agt angiotensinogen gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:22120037|REF_RGD_ID:8549486 8849926 Agt angiotensinogen gene DOID:12932 endomyocardial fibrosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20837116|PMID:25139994|PMID:25488910|PMID:27099261|PMID:30703374 8849926 Agt angiotensinogen gene DOID:12935 alcoholic cardiomyopathy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22497828 8849926 Agt angiotensinogen gene DOID:13025 retinopathy of prematurity ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387897 8849926 Agt angiotensinogen gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21357516|REF_RGD_ID:5129175 8849926 Agt angiotensinogen gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19858406 8849926 Agt angiotensinogen gene DOID:13580 cholestasis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8849926 Agt angiotensinogen gene DOID:13884 sick sinus syndrome ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-6G>A (human) PMID:22242192|REF_RGD_ID:8548870 8849926 Agt angiotensinogen gene DOID:13994 cleidocranial dysplasia ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Large fontanelles PMID:25741868|PMID:35005812 8849926 Agt angiotensinogen gene DOID:14499 Fabry disease severity ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:24020479|REF_RGD_ID:13432161 8849926 Agt angiotensinogen gene DOID:1540 parathyroid carcinoma ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8849926 Agt angiotensinogen gene DOID:1561 cognitive disorder ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22982863 8849926 Agt angiotensinogen gene DOID:1580 diffuse scleroderma ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14730619|REF_RGD_ID:8548886 8849926 Agt angiotensinogen gene DOID:1612 breast cancer ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes: :p.T174M, p.M235T (human) PMID:23828384|REF_RGD_ID:8548866 8849926 Agt angiotensinogen gene DOID:1612 breast cancer ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23374911|REF_RGD_ID:8548901 8849926 Agt angiotensinogen gene DOID:1612 breast cancer susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T (human) PMID:16823505|REF_RGD_ID:8548861 8849926 Agt angiotensinogen gene DOID:178 vascular disease ISO RGD:731070 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:29706566 8849926 Agt angiotensinogen gene DOID:1875 impotence treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:17616753|REF_RGD_ID:8548892 8849926 Agt angiotensinogen gene DOID:1936 atherosclerosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21925196|PMID:22539767 8849926 Agt angiotensinogen gene DOID:1936 atherosclerosis treatment ISO RGD:2069 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22977667|REF_RGD_ID:8549467 8849926 Agt angiotensinogen gene DOID:2018 hyperinsulinism ISO RGD:731070 D RGD:9068941 20200609 RGD associated with obesity;DNA:polymorphism: :p.M235T PMID:16713443|REF_RGD_ID:1601142 8849926 Agt angiotensinogen gene DOID:224 transient cerebral ischemia ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21934531|REF_RGD_ID:8549480 8849926 Agt angiotensinogen gene DOID:2355 anemia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3524928 8849926 Agt angiotensinogen gene DOID:2377 multiple sclerosis ISO RGD:731070 D RGD:9068941 20200609 RGD protein:decreased expression:brain,astrocyte: PMID:17715340|REF_RGD_ID:13432361 8849926 Agt angiotensinogen gene DOID:2527 nephrosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2046802 8849926 Agt angiotensinogen gene DOID:2921 glomerulonephritis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11459117 8849926 Agt angiotensinogen gene DOID:2921 glomerulonephritis disease_progression ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:15888567|REF_RGD_ID:13432360 8849926 Agt angiotensinogen gene DOID:2983 anuria ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8527259 8849926 Agt angiotensinogen gene DOID:2986 IgA glomerulonephritis ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy PMID:1394429|PMID:16059745|PMID:25741868|PMID:28492532|PMID:7649545|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9259580|PMID:9421481|PMID:9831339 8849926 Agt angiotensinogen gene DOID:3328 temporal lobe epilepsy ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:22542773|REF_RGD_ID:8549466 8849926 Agt angiotensinogen gene DOID:3407 carotid artery disease ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12911327 8849926 Agt angiotensinogen gene DOID:3407 carotid artery disease susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T PMID:17220293|REF_RGD_ID:1601136 8849926 Agt angiotensinogen gene DOID:3525 middle cerebral artery infarction ISO RGD:2069 D RGD:9068941 20200609 RGD protein:increased expression:brain, serum PMID:24090950|REF_RGD_ID:9685436 8849926 Agt angiotensinogen gene DOID:3627 aortic aneurysm ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21925196 8849926 Agt angiotensinogen gene DOID:3770 pulmonary fibrosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28960804|PMID:31181250 8849926 Agt angiotensinogen gene DOID:3770 pulmonary fibrosis treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:24168260|REF_RGD_ID:11039408 8849926 Agt angiotensinogen gene DOID:418 systemic scleroderma ISO RGD:731070 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17360781|REF_RGD_ID:8548889 8849926 Agt angiotensinogen gene DOID:4500 hypokalemia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7182184 8849926 Agt angiotensinogen gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, plasma PMID:7550093|REF_RGD_ID:11039051 8849926 Agt angiotensinogen gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2069 D RGD:9068941 20200609 RGD protein:increased expression:kidney, urine PMID:21282555|REF_RGD_ID:5129185 8849926 Agt angiotensinogen gene DOID:5082 liver cirrhosis ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21873937|REF_RGD_ID:8549465 8849926 Agt angiotensinogen gene DOID:5082 liver cirrhosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15613622 8849926 Agt angiotensinogen gene DOID:5199 ureteral obstruction ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 8849926 Agt angiotensinogen gene DOID:552 pneumonia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28960804 8849926 Agt angiotensinogen gene DOID:557 kidney disease ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:15213268|PMID:17989111|PMID:21896938|PMID:31098697 8849926 Agt angiotensinogen gene DOID:576 proteinuria ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12937228|PMID:17890855|PMID:2046802|PMID:25398788|PMID:464098|PMID:9259580 8849926 Agt angiotensinogen gene DOID:5844 myocardial infarction ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21167013|REF_RGD_ID:5129191 8849926 Agt angiotensinogen gene DOID:5844 myocardial infarction ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16413583|PMID:1668233 8849926 Agt angiotensinogen gene DOID:5844 myocardial infarction ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease;DNA:polymorphism: :p.M235T (human) PMID:11393670|REF_RGD_ID:1566452 8849926 Agt angiotensinogen gene DOID:5844 myocardial infarction susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism: :p.M235T PMID:17299437|REF_RGD_ID:1601132 8849926 Agt angiotensinogen gene DOID:6000 congestive heart failure ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12025466|PMID:1330361|PMID:20811386 8849926 Agt angiotensinogen gene DOID:6000 congestive heart failure onset ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.M235T, p.T174M (human) PMID:17145981|REF_RGD_ID:1601140 8849926 Agt angiotensinogen gene DOID:6000 congestive heart failure severity ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:24465706|REF_RGD_ID:11039412 8849926 Agt angiotensinogen gene DOID:6000 congestive heart failure treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21963897|REF_RGD_ID:8549482 8849926 Agt angiotensinogen gene DOID:630 genetic disease ISO RGD:731070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849926 Agt angiotensinogen gene DOID:6432 pulmonary hypertension ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21381494|REF_RGD_ID:5129162 8849926 Agt angiotensinogen gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T PMID:17220293|REF_RGD_ID:1601136 8849926 Agt angiotensinogen gene DOID:7693 abdominal aortic aneurysm ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16514081|PMID:20937366|PMID:22539767|PMID:25301841|PMID:30354818 8849926 Agt angiotensinogen gene DOID:8552 chronic myeloid leukemia ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:19761684|REF_RGD_ID:11039056 8849926 Agt angiotensinogen gene DOID:8778 Crohn's disease ISO RGD:731070 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Crohn disease, association with PMID:12743009|PMID:13937884|PMID:15077204|PMID:17047091|PMID:20978123|PMID:9120024|PMID:9894356 8849926 Agt angiotensinogen gene DOID:8805 intermediate coronary syndrome ISO RGD:731070 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:11451295|REF_RGD_ID:8548894 8849926 Agt angiotensinogen gene DOID:8923 skin melanoma ISO RGD:731070 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19394758|REF_RGD_ID:8548874 8849926 Agt angiotensinogen gene DOID:8947 diabetic retinopathy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387897 8849926 Agt angiotensinogen gene DOID:8947 diabetic retinopathy ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human) PMID:10862638|REF_RGD_ID:8548872 8849926 Agt angiotensinogen gene DOID:8947 diabetic retinopathy treatment ISO RGD:10118 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21792177|REF_RGD_ID:8548900 8849926 Agt angiotensinogen gene DOID:8947 diabetic retinopathy treatment ISO RGD:2069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21792177|REF_RGD_ID:8548900 8849926 Agt angiotensinogen gene DOID:9000040 Hypertrophy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12054679|PMID:12237323|PMID:18785976|PMID:21071431|PMID:24039778|PMID:26955731 8849926 Agt angiotensinogen gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1654493|PMID:2535056 8849926 Agt angiotensinogen gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:type I cell of carotid body PMID:24036592|REF_RGD_ID:11039031 8849926 Agt angiotensinogen gene DOID:9000784 Fibrosis ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21367774|REF_RGD_ID:5129174 8849926 Agt angiotensinogen gene DOID:9000784 Fibrosis ISO RGD:731070 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:18785976|PMID:19373235|PMID:25398788|PMID:25807386|PMID:26648693|PMID:30634441|PMID:33676887 8849926 Agt angiotensinogen gene DOID:9000815 Aortic Calcification ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:23291307|REF_RGD_ID:8549476 8849926 Agt angiotensinogen gene DOID:9001189 Drug Overdose ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8527259 8849926 Agt angiotensinogen gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:2069 D RGD:9068941 20230817 RGD associated with maternal adenine induced chronic kidney disease PMID:32604820|REF_RGD_ID:401793718 8849926 Agt angiotensinogen gene DOID:9001542 Albuminuria ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:18679781|PMID:21896938 8849926 Agt angiotensinogen gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12667390 8849926 Agt angiotensinogen gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:17977916|REF_RGD_ID:8548898 8849926 Agt angiotensinogen gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24688123|PMID:29353218|PMID:30703374 8849926 Agt angiotensinogen gene DOID:9002165 Diabetic Nephropathies ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17890855|PMID:20383342 8849926 Agt angiotensinogen gene DOID:9002165 Diabetic Nephropathies ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human) PMID:10862638|PMID:8772723|REF_RGD_ID:8548868|REF_RGD_ID:8548872 8849926 Agt angiotensinogen gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :p.M235T (human) PMID:19014923|REF_RGD_ID:11039058 8849926 Agt angiotensinogen gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :p.M235T (human) PMID:11938025|REF_RGD_ID:8548885 8849926 Agt angiotensinogen gene DOID:9002211 Hyperalgesia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9613798 8849926 Agt angiotensinogen gene DOID:9002231 Fetal Growth Retardation ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney,urine: PMID:26270574|REF_RGD_ID:11538508 8849926 Agt angiotensinogen gene DOID:9002231 Fetal Growth Retardation ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17537837 8849926 Agt angiotensinogen gene DOID:9002231 Fetal Growth Retardation ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:20530295|REF_RGD_ID:13432363 8849926 Agt angiotensinogen gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26954031 8849926 Agt angiotensinogen gene DOID:9002371 Cardiotoxicity ISO RGD:731070 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33676887 8849926 Agt angiotensinogen gene DOID:9002514 Neointima ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19258495|PMID:29609002 8849926 Agt angiotensinogen gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25807386 8849926 Agt angiotensinogen gene DOID:9003191 Vascular Malformations ISO RGD:731070 D RGD:9068941 20221111 RGD protein:increased expression:intestine: PMID:24219762|REF_RGD_ID:155663361 8849926 Agt angiotensinogen gene DOID:9003191 Vascular Malformations ISO RGD:731070 D RGD:9068941 20221111 RGD protein:increased expression:serum: PMID:21955427|REF_RGD_ID:155663363 8849926 Agt angiotensinogen gene DOID:9003234 Hypertensive Nephropathy treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:22089474|REF_RGD_ID:8548895 8849926 Agt angiotensinogen gene DOID:9003805 Catalepsy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1034924 8849926 Agt angiotensinogen gene DOID:9003936 Cardiomegaly ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:19779471|REF_RGD_ID:8548902 8849926 Agt angiotensinogen gene DOID:9003936 Cardiomegaly ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:21367774|PMID:24342267|REF_RGD_ID:11039415|REF_RGD_ID:5129174 8849926 Agt angiotensinogen gene DOID:9003936 Cardiomegaly ISO RGD:731070 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11403367|PMID:15226216|PMID:15851630|PMID:15870116|PMID:17124262|PMID:18400235|PMID:19794523|PMID:20190099|PMID:20409916|PMID:20429690|PMID:20616315|PMID:20811386|PMID:22291909|PMID:22335191|PMID:24342267|PMID:25139994|PMID:25488910|PMID:27099261|PMID:29353218|PMID:30634441|PMID:30703374|PMID:31016362|PMID:35510648 8849926 Agt angiotensinogen gene DOID:9003936 Cardiomegaly treatment ISO RGD:10118 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 8849926 Agt angiotensinogen gene DOID:9004009 Reperfusion Injury ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 8849926 Agt angiotensinogen gene DOID:9004306 Peptic Ulcer Hemorrhage ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20824505 8849926 Agt angiotensinogen gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10805403|PMID:14644620|PMID:14751847|PMID:18679781|PMID:20837116|PMID:24688123|PMID:31016362 8849926 Agt angiotensinogen gene DOID:9004771 Vascular Remodeling ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25259750|PMID:27678262 8849926 Agt angiotensinogen gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:20837666|REF_RGD_ID:5129167 8849926 Agt angiotensinogen gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:20837666|REF_RGD_ID:5129167 8849926 Agt angiotensinogen gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:20837666|REF_RGD_ID:5129167 8849926 Agt angiotensinogen gene DOID:9005372 Inflammation ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15944212|PMID:16868307|PMID:27436852|PMID:29353218 8849926 Agt angiotensinogen gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15831366|PMID:17177138|PMID:18829990 8849926 Agt angiotensinogen gene DOID:9005749 Necrosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606818|PMID:1535655 8849926 Agt angiotensinogen gene DOID:9006024 Hypotension ISO RGD:10118 D RGD:9068941 20200609 RGD PMID:9466969|REF_RGD_ID:737778 8849926 Agt angiotensinogen gene DOID:9006024 Hypotension ISO RGD:731070 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:30634441|PMID:3078272|PMID:8527259|PMID:9323291 8849926 Agt angiotensinogen gene DOID:9006045 Dissecting Aneurysm ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17502491 8849926 Agt angiotensinogen gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:731070 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis PMID:11770813|PMID:12743009|PMID:13937884|PMID:1394429|PMID:15077204|PMID:16059745|PMID:16116425|PMID:17036344|PMID:17047091|PMID:20978123|PMID:22095942|PMID:23497386|PMID:24452034|PMID:25278896|PMID:25741868|PMID:28492532|PMID:7607642|PMID:7649545|PMID:7744780|PMID:7883995|PMID:8348146|PMID:8513325|PMID:8518804|PMID:9120024|PMID:9259580|PMID:9403548|PMID:9421481|PMID:9831339|PMID:9894356 8849926 Agt angiotensinogen gene DOID:9006646 Metabolic Syndrome ISO RGD:2069 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue PMID:17260464|REF_RGD_ID:1601134 8849926 Agt angiotensinogen gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:2069 D RGD:9068941 20200609 RGD PMID:8446257|REF_RGD_ID:11039400 8849926 Agt angiotensinogen gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29353218 8849926 Agt angiotensinogen gene DOID:9007001 Bradycardia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9519251 8849926 Agt angiotensinogen gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:731070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8849926 Agt angiotensinogen gene DOID:9007096 Stroke susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism: :p.M235T PMID:17299437|REF_RGD_ID:1601132 8849926 Agt angiotensinogen gene DOID:9007096 Stroke susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD associated with sickle cell anemia;DNA:repeat:exon: PMID:11754397|REF_RGD_ID:11039048 8849926 Agt angiotensinogen gene DOID:9007102 Myocardial Ischemia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16775501 8849926 Agt angiotensinogen gene DOID:9007174 Ventricular Remodeling ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29353218 8849926 Agt angiotensinogen gene DOID:9007278 Anaphylaxis ISO RGD:731070 D RGD:9068941 20200609 RGD PMID:1422942|REF_RGD_ID:8548893 8849926 Agt angiotensinogen gene DOID:9007331 Alkalosis ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7182184 8849926 Agt angiotensinogen gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29499335 8849926 Agt angiotensinogen gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2069 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15001561|REF_RGD_ID:13515113 8849926 Agt angiotensinogen gene DOID:9007820 Sudden Death ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17502491 8849926 Agt angiotensinogen gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19166939|PMID:2535056 8849926 Agt angiotensinogen gene DOID:9007908 Aortic Coarctation treatment ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.704T>C (human) PMID:21450583|REF_RGD_ID:13432358 8849926 Agt angiotensinogen gene DOID:9008217 Hemorrhage ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:promoter:-6G>A (human) PMID:19733287|REF_RGD_ID:11039046 8849926 Agt angiotensinogen gene DOID:9009039 Hyperemia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15815331 8849926 Agt angiotensinogen gene DOID:9009073 Diaphragmatic Hernia ISO RGD:731070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16292651 8849926 Agt angiotensinogen gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8849926 Agt angiotensinogen gene DOID:9279 hyperhomocysteinemia ISO RGD:731070 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:24386282 8849926 Agt angiotensinogen gene DOID:9352 type 2 diabetes mellitus ISO RGD:731070 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:smooth muscle cell, carotid artery PMID:17170378|REF_RGD_ID:1601138 8849926 Agt angiotensinogen gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T174M, p.M235T (human) PMID:9258285|REF_RGD_ID:8548863 8849926 Agt angiotensinogen gene DOID:988 mitral valve prolapse severity ISO RGD:731070 D RGD:9068941 20200609 RGD associated with Marfan Syndrome;DNA:haplotype:cds: p.M235T(human) PMID:17379330|REF_RGD_ID:13432357 8849926 Agt angiotensinogen gene DOID:9970 obesity ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M235T PMID:16713443|REF_RGD_ID:1601142 8849926 Agt angiotensinogen gene DOID:9970 obesity susceptibility ISO RGD:731070 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.T174M PMID:16514903|REF_RGD_ID:1601143 8849935 Nrsn1 neurensin 1 gene DOID:11054 urinary bladder cancer ISO RGD:1317257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8849935 Nrsn1 neurensin 1 gene DOID:630 genetic disease ISO RGD:1317257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849945 Pxdc1 PX domain containing 1 gene DOID:630 genetic disease ISO RGD:1322692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849954 Sesn2 sestrin 2 gene DOID:630 genetic disease ISO RGD:1346813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849954 Sesn2 sestrin 2 gene DOID:9005369 Hepatomegaly ISO RGD:1346813 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28209544 8849954 Sesn2 sestrin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346813 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28209544 8849954 Sesn2 sestrin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31054940 8849967 Vsig1 V-set and immunoglobulin domain containing 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1347101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8849967 Vsig1 V-set and immunoglobulin domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8849967 Vsig1 V-set and immunoglobulin domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1347101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8849967 Vsig1 V-set and immunoglobulin domain containing 1 gene DOID:630 genetic disease ISO RGD:1347101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8849995 Nek10 NIMA related kinase 10 gene DOID:0111851 primary ciliary dyskinesia 44 ISO RGD:1350326 D RGD:7240710 20200318 OMIM 8849995 Nek10 NIMA related kinase 10 gene DOID:0111851 primary ciliary dyskinesia 44 ISO RGD:1350326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 44 PMID:25741868 8849995 Nek10 NIMA related kinase 10 gene DOID:630 genetic disease ISO RGD:1350326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850047 Scin scinderin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8850047 Scin scinderin gene DOID:630 genetic disease ISO RGD:1350815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0050214 Lambert-Eaton myasthenic syndrome ISO RGD:1347795 D RGD:9068941 20200609 RGD PMID:16289869|REF_RGD_ID:1626312 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:28492532|PMID:30982612|PMID:31209758 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1347795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0081097 Rafiq syndrome ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0090051 dystonia 23 ISO RGD:1347795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 23 PMID:21370267|PMID:25296916|PMID:25741868|PMID:26157024|PMID:28492532 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1347795 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:1826 epilepsy ISO RGD:1347795 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:2377 multiple sclerosis ISO RGD:1347795 D RGD:9068941 20200609 RGD PMID:11353727|REF_RGD_ID:1580151 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:4724 brain edema ISO RGD:1347795 D RGD:9068941 20230727 RGD mRNA:decreased expression:neocortex,Pyramidal cells (human) PMID:27487831|REF_RGD_ID:329969876 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:574 peripheral nervous system disease ISO RGD:1347795 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22891239 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:630 genetic disease ISO RGD:1347795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:9001474 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements ISO RGD:1347795 D RGD:7240710 20190918 OMIM 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:9001474 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements ISO RGD:1347795 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CACNA1B-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30982612|PMID:9536098 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:735793 D RGD:9068941 20200609 RGD PMID:27273361|REF_RGD_ID:13506726 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:9002211 Hyperalgesia ISO RGD:628852 D RGD:9068941 20200609 RGD PMID:17567797|REF_RGD_ID:1626313 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:628852 D RGD:9068941 20200609 RGD PMID:11353727|REF_RGD_ID:1580151 8850081 Cacna1b calcium voltage-gated channel subunit alpha1 B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8850125 LOC102019713 olfactory receptor 24 gene DOID:12849 autistic disorder ISO RGD:1350413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8850125 LOC102019713 olfactory receptor 24 gene DOID:630 genetic disease ISO RGD:1350413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850129 Rapgef2 Rap guanine nucleotide exchange factor 2 gene DOID:0111694 familial adult myoclonic epilepsy 7 ISO RGD:1315047 D RGD:7240710 20190315 OMIM 8850129 Rapgef2 Rap guanine nucleotide exchange factor 2 gene DOID:0111694 familial adult myoclonic epilepsy 7 ISO RGD:1315047 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 PMID:25741868 8850129 Rapgef2 Rap guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1315047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850129 Rapgef2 Rap guanine nucleotide exchange factor 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1315047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507423 8850169 Kirrel1 kirre like nephrin family adhesion molecule 1 gene DOID:0112266 nephrotic syndrome type 23 ISO RGD:1349040 D RGD:7240710 20210324 OMIM 8850169 Kirrel1 kirre like nephrin family adhesion molecule 1 gene DOID:0112266 nephrotic syndrome type 23 ISO RGD:1349040 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: KIRREL1-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 23 PMID:25741868|PMID:31472902 8850169 Kirrel1 kirre like nephrin family adhesion molecule 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8850169 Kirrel1 kirre like nephrin family adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1349040 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8850169 Kirrel1 kirre like nephrin family adhesion molecule 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8850193 Padi4 peptidyl arginine deiminase 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348860 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8850193 Padi4 peptidyl arginine deiminase 4 gene DOID:305 carcinoma ISO RGD:1348860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8850193 Padi4 peptidyl arginine deiminase 4 gene DOID:630 genetic disease ISO RGD:1348860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850193 Padi4 peptidyl arginine deiminase 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1348860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis 8850193 Padi4 peptidyl arginine deiminase 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8850193 Padi4 peptidyl arginine deiminase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8850220 Mrps7 mitochondrial ribosomal protein S7 gene DOID:0111497 combined oxidative phosphorylation deficiency 34 ISO RGD:1319351 D RGD:7240710 20190315 OMIM 8850220 Mrps7 mitochondrial ribosomal protein S7 gene DOID:0111497 combined oxidative phosphorylation deficiency 34 ISO RGD:1319351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 PMID:25556185|PMID:25741868|PMID:28492532|PMID:9063420 8850220 Mrps7 mitochondrial ribosomal protein S7 gene DOID:10003 sensorineural hearing loss ISO RGD:1319351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 8850220 Mrps7 mitochondrial ribosomal protein S7 gene DOID:630 genetic disease ISO RGD:1319351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8850220 Mrps7 mitochondrial ribosomal protein S7 gene DOID:9008939 Breast Neoplasms ISO RGD:1319351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8850229 Marchf4 membrane associated ring-CH-type finger 4 gene DOID:630 genetic disease ISO RGD:1353584 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850229 Marchf4 membrane associated ring-CH-type finger 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8850229 Marchf4 membrane associated ring-CH-type finger 4 gene DOID:9255 frontotemporal dementia ISO RGD:1353584 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:29476165 8850238 Osbpl10 oxysterol binding protein like 10 gene DOID:630 genetic disease ISO RGD:1350183 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320 8850257 Calcoco1 calcium binding and coiled-coil domain 1 gene DOID:630 genetic disease ISO RGD:731717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850257 Calcoco1 calcium binding and coiled-coil domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8850279 Fbxl20 F-box and leucine rich repeat protein 20 gene DOID:630 genetic disease ISO RGD:1345687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850307 Tekt2 tektin 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8850307 Tekt2 tektin 2 gene DOID:630 genetic disease ISO RGD:1322323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850321 Synpo2 synaptopodin 2 gene DOID:4001 ovarian carcinoma ISO RGD:1344756 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 8850321 Synpo2 synaptopodin 2 gene DOID:630 genetic disease ISO RGD:1344756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850321 Synpo2 synaptopodin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8850335 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1318252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8850335 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1318252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:27486781|PMID:28492532 8850335 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:1059 intellectual disability ISO RGD:1318252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8850335 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:630 genetic disease ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8850335 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:7736 retinal telangiectasia ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal telangiectasis PMID:25741868|PMID:26908610|PMID:28492532|PMID:31494449 8850335 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:7765 Coats disease ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coats disease | ClinVar Annotator: match by term: Exudative retinopathy PMID:25741868|PMID:26908610|PMID:28492532|PMID:31494449 8850335 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:9002248 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES ISO RGD:1318252 D RGD:7240710 20190315 OMIM 8850335 Rcbtb1 RCC1 and BTB domain containing protein 1 gene DOID:9002248 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES ISO RGD:1318252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES | ClinVar Annotator: match by term: Retinal dystrophy with or without extraocular anomalies PMID:25741868|PMID:26908610|PMID:27486781|PMID:28492532|PMID:31494449 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:0050554 X-linked sideroblastic anemia with ataxia ISO RGD:736755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:736755 D RGD:7240710 20180130 OMIM 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:736755 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia PMID:10029606|PMID:10444183|PMID:11110715|PMID:12031592|PMID:12531813|PMID:12663458|PMID:1570328|PMID:16121195|PMID:16446107|PMID:18823803|PMID:20848343|PMID:21309041|PMID:21653323|PMID:22269113|PMID:22740690|PMID:22778251|PMID:22995991|PMID:23315997|PMID:23409301|PMID:24166784|PMID:25741868|PMID:28492532|PMID:28840292|PMID:30678654|PMID:32297424|PMID:7560104|PMID:7592563|PMID:7705839|PMID:7949148|PMID:8107717|PMID:9226183|PMID:9488633|PMID:9858242 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 onset ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:mutation:exon: 1236 G> A, p.C395Y (human) PMID:11110715|REF_RGD_ID:11035243 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:0060063 sideroblastic anemia 1 onset ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:mutations:exons:p.K299Q,A172T(human) PMID:7560104|REF_RGD_ID:11035241 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:736755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:12849 autistic disorder ISO RGD:736755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:13271 cutaneous porphyria severity ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:mutation:exon: c.1757 A > T, p.Y586F (human) PMID:21653323|REF_RGD_ID:11035240 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:2352 hemochromatosis severity ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.15599C>T,p.520L(human) PMID:16446107|REF_RGD_ID:11035246 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:2355 anemia ISO RGD:2084 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:21296123|REF_RGD_ID:10449049 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:2084 D RGD:9068941 20200609 RGD protein:decreased activity:liver: PMID:8351413|REF_RGD_ID:11035235 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:3890 acute intermittent porphyria ISO RGD:736755 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:23650938|REF_RGD_ID:18337288 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:583 hemolytic anemia ISO RGD:2084 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:17082564|REF_RGD_ID:1599038 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:630 genetic disease ISO RGD:736755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:8955 sideroblastic anemia ISO RGD:736755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16716198|PMID:16892088 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:8955 sideroblastic anemia susceptibility ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:transversion:cds:p.F165L (human) PMID:7949148|REF_RGD_ID:1599037 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant ISO RGD:736755 D RGD:7240710 20180130 OMIM 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant ISO RGD:736755 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant PMID:18760763|PMID:21653323|PMID:23263862|PMID:23409301|PMID:25741868|PMID:28492532|PMID:30678654 8850365 Alas2 5'-aminolevulinate synthase 2 gene DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant disease_progression ISO RGD:736755 D RGD:9068941 20200609 RGD DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human) PMID:18760763|REF_RGD_ID:18337287 8850381 Alg5 ALG5 dolichyl-phosphate beta-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1318934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850381 Alg5 ALG5 dolichyl-phosphate beta-glucosyltransferase gene DOID:9006011 Polycystic Kidney Disease 7 ISO RGD:1318934 D RGD:7240710 20221012 OMIM 8850381 Alg5 ALG5 dolichyl-phosphate beta-glucosyltransferase gene DOID:9006011 Polycystic Kidney Disease 7 ISO RGD:1318934 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 7 PMID:35896117 8850410 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:0080600 COVID-19 ISO RGD:736539 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8850410 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:10283 prostate cancer ISO RGD:736539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8850410 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:736539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 8850410 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:2870 endometrial adenocarcinoma ISO RGD:736539 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15745937|REF_RGD_ID:1579943 8850410 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:5223 infertility ISO RGD:736539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:23265383 8850410 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:630 genetic disease ISO RGD:736539 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383|PMID:25741868 8850410 Tgfbr3 transforming growth factor beta receptor 3 gene DOID:65 connective tissue disease ISO RGD:736539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8850442 Kcnk1 potassium two pore domain channel subfamily K member 1 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:731790 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 8850442 Kcnk1 potassium two pore domain channel subfamily K member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:731790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8850442 Kcnk1 potassium two pore domain channel subfamily K member 1 gene DOID:630 genetic disease ISO RGD:731790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850442 Kcnk1 potassium two pore domain channel subfamily K member 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:731790 D RGD:9068941 20231221 RGD DNA:SNP:CDS:rs11800854 (human) PMID:25056994|REF_RGD_ID:401938645 8850442 Kcnk1 potassium two pore domain channel subfamily K member 1 gene DOID:9002221 Hyperplasia ISO RGD:731790 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23291559 8850442 Kcnk1 potassium two pore domain channel subfamily K member 1 gene DOID:9008681 Deafness ISO RGD:621447 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, neuron PMID:17884299|REF_RGD_ID:2316516 8850442 Kcnk1 potassium two pore domain channel subfamily K member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8850450 Cds1 CDP-diacylglycerol synthase 1 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:734044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8850450 Cds1 CDP-diacylglycerol synthase 1 gene DOID:305 carcinoma ISO RGD:734044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8850450 Cds1 CDP-diacylglycerol synthase 1 gene DOID:630 genetic disease ISO RGD:734044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850450 Cds1 CDP-diacylglycerol synthase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8850450 Cds1 CDP-diacylglycerol synthase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8850450 Cds1 CDP-diacylglycerol synthase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8850469 Vbp1 VHL binding protein 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8850469 Vbp1 VHL binding protein 1 gene DOID:0050476 Barth syndrome ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8850469 Vbp1 VHL binding protein 1 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8850469 Vbp1 VHL binding protein 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1352433 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8850469 Vbp1 VHL binding protein 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8850469 Vbp1 VHL binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8850469 Vbp1 VHL binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1352433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8850469 Vbp1 VHL binding protein 1 gene DOID:13628 favism ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8850469 Vbp1 VHL binding protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1352433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8850469 Vbp1 VHL binding protein 1 gene DOID:3070 high grade glioma ISO RGD:1352433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8850469 Vbp1 VHL binding protein 1 gene DOID:607 paraplegia ISO RGD:1352433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8850469 Vbp1 VHL binding protein 1 gene DOID:630 genetic disease ISO RGD:1352433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850469 Vbp1 VHL binding protein 1 gene DOID:9002720 Splenomegaly ISO RGD:1352433 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1344590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:22539854|PMID:22750526|PMID:24407264|PMID:25741868|PMID:27066572|PMID:28492532 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:61966 D RGD:9068941 20240314 RGD mRNA:increased expression:posterior hypothalamic region (rat) PMID:18514412|REF_RGD_ID:402528884 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0050741 alcohol dependence ISO RGD:1344590 D RGD:9068941 20240309 RGD DNA:SNPs, haplotype:introns:IVS9+99C>A, IVS10+3145A>G (rs211014, rs211013) (human) PMID:15630072|REF_RGD_ID:402463959 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0050741 alcohol dependence ISO RGD:1344590 D RGD:9068941 20240314 RGD mRNA:decreased expression:hippocampus (human) PMID:22253714|REF_RGD_ID:401900163 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0050741 alcohol dependence ISO RGD:61966 D RGD:9068941 20240314 RGD mRNA:increased expression:hippocampus (rat) PMID:22253714|REF_RGD_ID:401900163 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:28492532|PMID:33391346 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0080422 Dravet syndrome ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344590 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:28492532|PMID:33391346 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0111298 familial febrile seizures 8 ISO RGD:1344590 D RGD:7240710 20190605 OMIM 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0111298 familial febrile seizures 8 ISO RGD:1344590 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 8 | ClinVar Annotator: match by term: Febrile seizures, familial, 8 | ClinVar Annotator: match by term: GABRG2-related condition PMID:11326274|PMID:11326275|PMID:11748509|PMID:12097483|PMID:12117362|PMID:15342642|PMID:15470132|PMID:15866052|PMID:16510738|PMID:16924025|PMID:17148443|PMID:17576681|PMID:18094250|PMID:18414213|PMID:21714819|PMID:22539854|PMID:22750526|PMID:23708187|PMID:23935098|PMID:24407264|PMID:25726841|PMID:25730860|PMID:25731747|PMID:25741868|PMID:26467025|PMID:27730413|PMID:27864268|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:31175295|PMID:31216405|PMID:33391346|PMID:35359574|PMID:9536098|PMID:9894880 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0112210 developmental and epileptic encephalopathy 74 ISO RGD:1344590 D RGD:7240710 20190515 OMIM 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:0112210 developmental and epileptic encephalopathy 74 ISO RGD:1344590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 74 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74 PMID:22539854|PMID:22750526|PMID:23708187|PMID:24407264|PMID:25726841|PMID:25730860|PMID:25741868|PMID:26467025|PMID:27730413|PMID:27864268|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29778030|PMID:31216405|PMID:31785789|PMID:32371413 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:10485 esophageal atresia ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1059 intellectual disability ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23708187|PMID:25741868|PMID:27864268|PMID:28492532 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:13413 hepatic encephalopathy ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15929193 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:13413 hepatic encephalopathy ISO RGD:61966 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:15929193|REF_RGD_ID:6480237 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:1344590 D RGD:9068941 20240307 RGD DNA:SNP:intron 8:84435G>A (human) PMID:19428381|REF_RGD_ID:402463950 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1574 alcohol use disorder ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1825 childhood absence epilepsy ISO RGD:1344590 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS6+2T>G (human) PMID:12117362|REF_RGD_ID:1358631 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1826 epilepsy ISO RGD:1344590 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16718694|PMID:22190369|PMID:24811917|PMID:28492532 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1344590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:17576681|PMID:23708187|PMID:25726841|PMID:25730860|PMID:27864268|PMID:28492532|PMID:29100083|PMID:29358611|PMID:9536098 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:630 genetic disease ISO RGD:1344590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326274|PMID:11326275|PMID:11748509|PMID:12097483|PMID:12477709|PMID:15470132|PMID:16924025|PMID:17947380|PMID:20485450|PMID:20551311|PMID:22539854|PMID:22750526|PMID:23708187|PMID:24407264|PMID:24480790|PMID:24798517|PMID:25726841|PMID:25730860|PMID:25731747|PMID:25741868|PMID:26467025|PMID:27066572|PMID:27340224|PMID:27367160|PMID:27622563|PMID:27730413|PMID:27864268|PMID:27899622|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29950725|PMID:30660939|PMID:31216405|PMID:32086284 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:670 amphetamine abuse ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15772696 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:670 amphetamine abuse sexual_dimorphism ISO RGD:1344590 D RGD:9068941 20240314 RGD DNA:missense mutation:exon 8:p.K289M (rs4480617) (human) PMID:14569258|REF_RGD_ID:402528887 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9002735 alcohol withdrawal syndrome ISO RGD:61966 D RGD:9068941 20240314 RGD mRNA, protein:increased expression:hippocampus (rat) PMID:12488536|REF_RGD_ID:402528882 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9002914 Familial Sudden Death ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9005485 Generalized Epilepsy with Febrile Seizures Plus, Type 3 ISO RGD:1344590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 3 PMID:23708187|PMID:25726841|PMID:25730860|PMID:27864268|PMID:28492532|PMID:29100083|PMID:29358611 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9007956 Febrile Seizures ISO RGD:1344590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9009061 Childhood Absence Epilepsy 2 ISO RGD:1344590 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 2 | ClinVar Annotator: match by term: GABRG2-Related Disorder PMID:11326274|PMID:11326275|PMID:11748509|PMID:12097483|PMID:12117362|PMID:12477709|PMID:15342642|PMID:15470132|PMID:15866052|PMID:16199547|PMID:16510738|PMID:16924025|PMID:17148443|PMID:17576681|PMID:17947380|PMID:18094250|PMID:18414213|PMID:18566737|PMID:19261880|PMID:20485450|PMID:20551311|PMID:21714819|PMID:22190369|PMID:22539854|PMID:22750526|PMID:23069679|PMID:23408872|PMID:23708187|PMID:23720301|PMID:23935098|PMID:24407264|PMID:24480790|PMID:24798517|PMID:24811917|PMID:24848745|PMID:24874541|PMID:25640679|PMID:25726841|PMID:25730860|PMID:25731747|PMID:25741868|PMID:26005849|PMID:26467025|PMID:26633542|PMID:27066572|PMID:27334371|PMID:27340224|PMID:27367160|PMID:27622563|PMID:27730413|PMID:27762395|PMID:27864268|PMID:27899622|PMID:28460589|PMID:28492532|PMID:29100083|PMID:29358611|PMID:29655203|PMID:29778030|PMID:29950725|PMID:30557390|PMID:30660939|PMID:31004928|PMID:31175295|PMID:31216405|PMID:31471553|PMID:31785789|PMID:32086284|PMID:32371413|PMID:33004838|PMID:33391346|PMID:35359574|PMID:35718920|PMID:36979350|PMID:9536098 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9975 cocaine dependence ISO RGD:1344590 D RGD:9068941 20240314 RGD mRNA:decreased expression:hippocampus (human) PMID:22253714|REF_RGD_ID:401900163 8850483 Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 gene DOID:9976 heroin dependence ISO RGD:1344590 D RGD:9068941 20240314 RGD DNA:SNP:intron: (rs211014) (human) PMID:17440936|REF_RGD_ID:402525444 8850500 Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0060417 3p deletion syndrome ISO RGD:1314318 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8850500 Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1314318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850508 Aqr aquarius intron-binding spliceosomal factor gene DOID:2717 Bloom syndrome ISO RGD:1314717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8850508 Aqr aquarius intron-binding spliceosomal factor gene DOID:630 genetic disease ISO RGD:1314717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850508 Aqr aquarius intron-binding spliceosomal factor gene DOID:9256 colorectal cancer ISO RGD:1314717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8850551 Tmem38b transmembrane protein 38B gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1347417 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:27065010|PMID:28492532 8850551 Tmem38b transmembrane protein 38B gene DOID:0110343 osteogenesis imperfecta type 14 ISO RGD:1347417 D RGD:7240710 20180130 OMIM 8850551 Tmem38b transmembrane protein 38B gene DOID:0110343 osteogenesis imperfecta type 14 ISO RGD:1347417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 14 PMID:17611541|PMID:23054245|PMID:25741868|PMID:26911354|PMID:28492532 8850551 Tmem38b transmembrane protein 38B gene DOID:12347 osteogenesis imperfecta ISO RGD:1347417 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24835313|PMID:25741868|PMID:27441836|PMID:28492532|PMID:32123938 8850551 Tmem38b transmembrane protein 38B gene DOID:630 genetic disease ISO RGD:1347417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8850551 Tmem38b transmembrane protein 38B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:10763 hypertension ISO RGD:1587390 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, alternative form:basilar artery PMID:14512447|REF_RGD_ID:7775067 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322442 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16646045|PMID:23910461|PMID:25741868|PMID:27442293|PMID:27879251|PMID:28166811|PMID:28492532|PMID:29510914|PMID:29907982 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322442 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16646045|PMID:17576681|PMID:23910461|PMID:25741868|PMID:26188975|PMID:27442293|PMID:27879251|PMID:28492532|PMID:29510914|PMID:29907982|PMID:9536098 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322442 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16646045|PMID:17576681|PMID:23910461|PMID:24667040|PMID:25741868|PMID:26188975|PMID:27442293|PMID:27879251|PMID:28492532|PMID:29510914|PMID:29907982|PMID:9536098 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:1875 impotence ISO RGD:1587390 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:penis erectile tissue PMID:17355372|REF_RGD_ID:7775062 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:1924 hypogonadism ISO RGD:1587390 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:Leydig cell PMID:20463352|REF_RGD_ID:7775065 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:4481 allergic rhinitis ISO RGD:1587390 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:24012634|REF_RGD_ID:7775060 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:5419 schizophrenia ISO RGD:1322442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:630 genetic disease ISO RGD:1322442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:6432 pulmonary hypertension ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21351102 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:65 connective tissue disease ISO RGD:1322442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:670 amphetamine abuse ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:8541 Sezary's disease ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9000641 Pain ISO RGD:1587390 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:12384231|REF_RGD_ID:7775057 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:1617610 D RGD:9068941 20200609 RGD PMID:14973199|REF_RGD_ID:7775058 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1322442 D RGD:7240710 20180130 OMIM 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1322442 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 | ClinVar Annotator: match by term: PRKG1-related condition PMID:16199547|PMID:16646045|PMID:17576681|PMID:23910461|PMID:24667040|PMID:25640679|PMID:25741868|PMID:26188975|PMID:27442293|PMID:27879251|PMID:28492532|PMID:29510914|PMID:29907982|PMID:9536098 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9004538 Hearing Loss ISO RGD:1617610 D RGD:9068941 20200609 RGD PMID:22270721|REF_RGD_ID:7775056 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1587390 D RGD:9068941 20200609 RGD PMID:20186099|REF_RGD_ID:7775064 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1587390 D RGD:9068941 20200609 RGD protein:decreased expression:aorta PMID:15939056|REF_RGD_ID:7777110 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9005968 Neuralgia ISO RGD:1322442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30152261 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1587390 D RGD:9068941 20200609 RGD PMID:18332860|PMID:19845676|REF_RGD_ID:7777120|REF_RGD_ID:7777130 8850563 Prkg1 protein kinase cGMP-dependent 1 gene DOID:9970 obesity ISO RGD:1587390 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus PMID:23454089|REF_RGD_ID:7777114 8850595 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8850595 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1316424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8850595 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0081341 congenital myopathy 5 ISO RGD:1316424 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25326637|PMID:25741868|PMID:28492532 8850595 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1316424 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25326637|PMID:25741868|PMID:28492532 8850595 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0112086 nuclear type mitochondrial complex I deficiency 26 ISO RGD:1316424 D RGD:7240710 20190315 OMIM 8850595 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:0112086 nuclear type mitochondrial complex I deficiency 26 ISO RGD:1316424 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | ClinVar Annotator: match by term: NDUFA9-related condition PMID:22114105|PMID:25741868|PMID:28492532|PMID:28671271 8850595 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:3652 Leigh disease ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 8850595 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:630 genetic disease ISO RGD:1316424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8850595 Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1316424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8850610 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8850610 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8850610 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1603039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8850610 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1603039 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8850610 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8850610 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8850610 Lime1 Lck interacting transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1603039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1321144 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:0080600 COVID-19 ISO RGD:1321144 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:0110994 Joubert syndrome 25 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:0111934 immunodeficiency 38 ISO RGD:1321144 D RGD:7240710 20180130 OMIM 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:0111934 immunodeficiency 38 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:17576681|PMID:19492091|PMID:21031596|PMID:22859821|PMID:24033266|PMID:25307056|PMID:25741868|PMID:26477546|PMID:28492532|PMID:31674007|PMID:32402279|PMID:9536098|PMID:9683594 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:0111935 immunodeficiency 16 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:1470 major depressive disorder ISO RGD:1321144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:3070 high grade glioma ISO RGD:1321144 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35506701 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:630 genetic disease ISO RGD:1321144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:684 hepatocellular carcinoma ISO RGD:1321144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28919514 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:9001488 Human Influenza ISO RGD:1321144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:9002170 Experimental Neoplasms ISO RGD:1321144 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35506701 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1321144 D RGD:9068941 20201106 RGD PMID:28036111|REF_RGD_ID:40400915 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310312 D RGD:9068941 20200609 RGD PMID:20973890|REF_RGD_ID:5490977 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:9007702 Carcinogenesis ISO RGD:1321144 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35506701 8850631 Isg15 ISG15 ubiquitin like modifier gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1321144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8850642 Golga4 golgin A4 gene DOID:37 skin disease ISO RGD:1352947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8850642 Golga4 golgin A4 gene DOID:630 genetic disease ISO RGD:1352947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850642 Golga4 golgin A4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8850642 Golga4 golgin A4 gene DOID:9007964 Arsenic Poisoning ISO RGD:1352947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8850642 Golga4 golgin A4 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1352947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8850681 Fbxo6 F-box protein 6 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1352122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8850681 Fbxo6 F-box protein 6 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1352122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8850681 Fbxo6 F-box protein 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1352122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8850681 Fbxo6 F-box protein 6 gene DOID:630 genetic disease ISO RGD:1352122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850681 Fbxo6 F-box protein 6 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1352122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8850697 Zp3 zona pellucida glycoprotein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8850697 Zp3 zona pellucida glycoprotein 3 gene DOID:630 genetic disease ISO RGD:1352592 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8850697 Zp3 zona pellucida glycoprotein 3 gene DOID:9005770 Oocyte Maturation Defect 3 ISO RGD:1352592 D RGD:7240710 20190315 OMIM 8850697 Zp3 zona pellucida glycoprotein 3 gene DOID:9005770 Oocyte Maturation Defect 3 ISO RGD:1352592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 3 PMID:25741868|PMID:28886344|PMID:30810869 8850697 Zp3 zona pellucida glycoprotein 3 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1352592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8850709 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1320619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:28492532 8850709 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:1936 atherosclerosis ISO RGD:1320619 D RGD:9068941 20200609 RGD protein:increased expression:internal carotid artery, smooth muscle cell (human) PMID:18508286|REF_RGD_ID:10054381 8850709 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:4362 cervical cancer ISO RGD:1320619 D RGD:9068941 20200609 RGD protein:increased expression:cervical epithelium (human) PMID:19319956|REF_RGD_ID:10054394 8850709 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1320619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8850709 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:630 genetic disease ISO RGD:1320619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850709 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:9004610 Acute Lung Injury ISO RGD:1320620 D RGD:9068941 20200609 RGD protein:altered localization:lung (mouse) PMID:19029002|REF_RGD_ID:10054390 8850709 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320619 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8850709 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:9007587 Autosomal Dominant Intellectual Developmental Disorder 74 ISO RGD:1320619 D RGD:7240710 20240207 OMIM 8850709 Hnrnpc heterogeneous nuclear ribonucleoprotein C gene DOID:9007587 Autosomal Dominant Intellectual Developmental Disorder 74 ISO RGD:1320619 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 74 PMID:37541189 8850755 Ergic3 ERGIC and golgi 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 8850755 Ergic3 ERGIC and golgi 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 8850755 Ergic3 ERGIC and golgi 3 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1317747 D RGD:9068941 20220812 RGD PMID:27588471|REF_RGD_ID:153323314 8850755 Ergic3 ERGIC and golgi 3 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1317746 D RGD:9068941 20220812 RGD mRNA,protein:increased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 8850755 Ergic3 ERGIC and golgi 3 gene DOID:630 genetic disease ISO RGD:1317746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850755 Ergic3 ERGIC and golgi 3 gene DOID:9002170 Experimental Neoplasms ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 8850755 Ergic3 ERGIC and golgi 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1317746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27588471 8850755 Ergic3 ERGIC and golgi 3 gene DOID:9008582 Developmental Disease ISO RGD:1317746 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Developmental disorder 8850818 Chtf18 chromosome transmission fidelity factor 18 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1321395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8850818 Chtf18 chromosome transmission fidelity factor 18 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321395 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8850818 Chtf18 chromosome transmission fidelity factor 18 gene DOID:1826 epilepsy ISO RGD:1321395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8850818 Chtf18 chromosome transmission fidelity factor 18 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8850818 Chtf18 chromosome transmission fidelity factor 18 gene DOID:630 genetic disease ISO RGD:1321395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850879 Samd3 sterile alpha motif domain containing 3 gene DOID:630 genetic disease ISO RGD:1322660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737311 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:10102622|PMID:10364675|PMID:10766184|PMID:10900011|PMID:11987242|PMID:12000816|PMID:12393546|PMID:12415268|PMID:12702509|PMID:12844285|PMID:14604959|PMID:14722919|PMID:14726398|PMID:14973063|PMID:15300849|PMID:15574766|PMID:15642664|PMID:16210343|PMID:17102069|PMID:17264095|PMID:17992257|PMID:18836774|PMID:19030229|PMID:19304954|PMID:19464396|PMID:19494350|PMID:19574279|PMID:19602254|PMID:20351605|PMID:20660572|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21876117|PMID:21993671|PMID:22393103|PMID:22799452|PMID:23015148|PMID:23403324|PMID:23512077|PMID:23541568|PMID:24033266|PMID:24583008|PMID:24728327|PMID:25119015|PMID:25157968|PMID:25371412|PMID:25563310|PMID:25583177|PMID:25637381|PMID:25741868|PMID:25966224|PMID:26211615|PMID:26467025|PMID:26681312|PMID:26822237|PMID:27539324|PMID:27651169|PMID:28454591|PMID:28492532|PMID:28873162|PMID:28944243|PMID:29616089|PMID:29790589|PMID:29978187|PMID:30042107|PMID:31132167|PMID:31368132|PMID:34566400|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7987306|PMID:8270255|PMID:8592333|PMID:8956040|PMID:9058738|PMID:9156047|PMID:9399847|PMID:9671762|PMID:9751722|PMID:9829911|PMID:9829912 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:0050771 pheochromocytoma ISO RGD:737311 D RGD:7240710 20180130 OMIM 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:0050771 pheochromocytoma ISO RGD:737311 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10102622|PMID:10408776|PMID:10567493|PMID:10766184|PMID:10900011|PMID:11331612|PMID:11483638|PMID:12000816|PMID:12114495|PMID:12393546|PMID:12414898|PMID:12624160|PMID:12844285|PMID:14722919|PMID:14973063|PMID:15300849|PMID:15574766|PMID:15611064|PMID:15642680|PMID:16452184|PMID:17024664|PMID:17102069|PMID:17102080|PMID:17102083|PMID:17661816|PMID:17922902|PMID:18567581|PMID:18836774|PMID:19030229|PMID:19228690|PMID:19252526|PMID:19336503|PMID:19464396|PMID:19574279|PMID:19602254|PMID:19763184|PMID:19808854|PMID:20151405|PMID:20351605|PMID:20518900|PMID:20660572|PMID:20846682|PMID:21204227|PMID:21463266|PMID:22145147|PMID:22438210|PMID:22799452|PMID:23397066|PMID:23512077|PMID:23541568|PMID:23772956|PMID:24033266|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24977658|PMID:25119015|PMID:25157968|PMID:25371412|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25741868|PMID:25966224|PMID:26211615|PMID:26323595|PMID:26467025|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27439424|PMID:27527340|PMID:27539324|PMID:27651169|PMID:28388566|PMID:28432847|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28873162|PMID:28944243|PMID:29124493|PMID:29616089|PMID:29790589|PMID:29891534|PMID:29978187|PMID:30042107|PMID:31368132|PMID:31779674|PMID:34566400|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7987306|PMID:8270255|PMID:8592333|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8956040|PMID:9156047|PMID:9329368|PMID:9663592|PMID:9671762|PMID:9751722|PMID:9829911|PMID:9829912 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:0060221 Maffucci syndrome ISO RGD:737311 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:16884327|PMID:20151405|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36480544|PMID:9067265|PMID:9663592 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:0060474 familial erythrocytosis 2 ISO RGD:737311 D RGD:7240710 20180130 OMIM 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:0060474 familial erythrocytosis 2 ISO RGD:737311 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 | ClinVar Annotator: match by term: POLYCYTHEMIA, VHL-DEPENDENT PMID:10088816|PMID:10102622|PMID:10205047|PMID:10326868|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10587522|PMID:10612827|PMID:10612832|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10830910|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11024059|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11148816|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11536052|PMID:11688393|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11835384|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11986208|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12081237|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12853836|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14691445|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:14987375|PMID:15002726|PMID:15109448|PMID:15177666|PMID:15241800|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15709172|PMID:15881703|PMID:15918937|PMID:15921368|PMID:15921386|PMID:15932632|PMID:16103922|PMID:16142346|PMID:16199547|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16572651|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16884328|PMID:16952288|PMID:16969113|PMID:17001110|PMID:17006605|PMID:17024664|PMID:17060462|PMID:17102069|PMID:17102080|PMID:17102082|PMID:17102083|PMID:17102087|PMID:17102088|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17407064|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17919893|PMID:17922902|PMID:17967880|PMID:17992257|PMID:17997830|PMID:18031321|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19258401|PMID:19270817|PMID:19280651|PMID:19293973|PMID:19304954|PMID:19309509|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19558618|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19764026|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20300531|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20844582|PMID:20846682|PMID:20850701|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21258414|PMID:21362373|PMID:21384277|PMID:21389259|PMID:21449869|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22703879|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23036577|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23224817|PMID:23298237|PMID:23315997|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407287|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23538339|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23632291|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23788753|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:0060474 familial erythrocytosis 2 ISO RGD:737311 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 | ClinVar Annotator: match by term: POLYCYTHEMIA, VHL-DEPENDENT PMID:24446253|PMID:24466223|PMID:24518179|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24678776|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24779271|PMID:24969085|PMID:24977658|PMID:25069792|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25557216|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25640679|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25825477|PMID:25867206|PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26206375|PMID:26211615|PMID:26224408|PMID:26228213|PMID:26230854|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27578599|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28379443|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29758562|PMID:29790589|PMID:29871882|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30477447|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30900640|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31317677|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31515488|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:31996412|PMID:32101665|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32420132|PMID:32561571|PMID:32671223|PMID:32869749|PMID:33004005|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33745191|PMID:33777662|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35448166|PMID:35734542|PMID:35938916|PMID:36281577|PMID:36384467|PMID:36401171|PMID:36480544|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8069305|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8641695|PMID:8641976|PMID:8700833|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9067265|PMID:9156047|PMID:9209471|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9447969|PMID:9452032|PMID:9463336|PMID:9523203|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:982991|PMID:9829911|PMID:9829912|PMID:9880225 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:737311 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Congenital Erythrocytosis PMID:15642664|PMID:25741868|PMID:28492532|PMID:29891534 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:0080777 lung sarcomatoid carcinoma ISO RGD:737311 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lung sarcomatoid carcinoma PMID:17006605|PMID:28492532|PMID:9829912 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:0080855 Parkinsonism ISO RGD:3960 D RGD:9068941 20200609 RGD PMID:20302395|REF_RGD_ID:2325190 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:737311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC PMID:10567493|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:15300849|PMID:18446368|PMID:19270817|PMID:20120764|PMID:21362373|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25157968|PMID:25720320|PMID:25741868|PMID:25867206|PMID:27527340|PMID:27617348|PMID:28492532|PMID:7728151|PMID:7784063|PMID:7987306|PMID:7987327|PMID:8522307|PMID:8730290|PMID:8956040|PMID:9452032|PMID:9829911|PMID:9829912 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:10763 hypertension ISO RGD:737311 D RGD:9068941 20200609 RGD PMID:12500216|REF_RGD_ID:1580371 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:11054 urinary bladder cancer ISO RGD:3960 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:19399409|REF_RGD_ID:2325183 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:13636 Fanconi anemia ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17436244|PMID:28492532 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:7240710 20180130 OMIM 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:10088816|PMID:10102622|PMID:10205047|PMID:10326868|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:10955664|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11148816|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11536052|PMID:11688393|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11835384|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12056827|PMID:12081237|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12853836|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14636579|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:14987375|PMID:15109448|PMID:15177666|PMID:15300849|PMID:15574766|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15881703|PMID:15918937|PMID:15932632|PMID:16142346|PMID:16199547|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16572651|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17001110|PMID:17024664|PMID:17060462|PMID:17102069|PMID:17102082|PMID:17102083|PMID:17102087|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17407064|PMID:17526729|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17919893|PMID:17922902|PMID:17967880|PMID:17992257|PMID:17997830|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19096585|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19258401|PMID:19270817|PMID:19293973|PMID:19304954|PMID:19309509|PMID:19333546|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19734639|PMID:19763184|PMID:19764026|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20850701|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21258414|PMID:21362373|PMID:21384277|PMID:21389259|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22145147|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22265326|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23036577|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23224817|PMID:23298237|PMID:23315997|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:2362675|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23788753|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24112165|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24147197|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24446253|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24678776|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24779271|PMID:24969085|PMID:24977658|PMID:24986515|PMID:25078357 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:14175 von Hippel-Lindau disease ISO RGD:737311 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25081542|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25557216|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25741896|PMID:25825477|PMID:25867206|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26206375|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26308528|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27730413|PMID:27785399|PMID:28052007|PMID:28202063|PMID:28349240|PMID:28379443|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28775317|PMID:28781534|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29437867|PMID:29595810|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29758562|PMID:29789510|PMID:29790589|PMID:29871882|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30522901|PMID:30877234|PMID:30900640|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31278746|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32869749|PMID:33004005|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33618821|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34122352|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35448166|PMID:35734542|PMID:36384467|PMID:36480544|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8069849|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8641695|PMID:8641976|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9067265|PMID:9143408|PMID:9156047|PMID:9209471|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9447969|PMID:9452032|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:982991|PMID:9829911|PMID:9829912|PMID:9880225 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:14566 disease of cellular proliferation ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:10567493|PMID:10761708|PMID:11106358|PMID:11309459|PMID:11409863|PMID:11739384|PMID:12414898|PMID:16809612|PMID:17024664|PMID:17661816|PMID:18676741|PMID:19228690|PMID:19408298|PMID:19906784|PMID:20054297|PMID:20151405|PMID:20447124|PMID:21715564|PMID:22234250|PMID:22357542|PMID:23990664|PMID:23990666|PMID:24033266|PMID:25078357|PMID:25157968|PMID:25637381|PMID:25741868|PMID:27527340|PMID:28469506|PMID:28492532|PMID:28503092|PMID:29748190|PMID:29790589|PMID:29949369|PMID:30877234|PMID:7563486|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9829911 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:1793 pancreatic cancer ISO RGD:737311 D RGD:9068941 20200609 RGD DNA:hypermethylation, deletion:promoter (human) PMID:19690016|REF_RGD_ID:2325169 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:1793 pancreatic cancer ISO RGD:737311 D RGD:9068941 20200609 RGD associated with Hippel-Lindau Disease;DNA:missense mutation:exon:p.R238Q (human) PMID:9488521|REF_RGD_ID:2325176 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:2154 nephroblastoma ISO RGD:3960 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:11880179|REF_RGD_ID:625549 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:2154 nephroblastoma ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11880179 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:2256 osteochondrodysplasia ISO RGD:737311 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dyschondroplasia PMID:10612827|PMID:11257211|PMID:12202531|PMID:15300849|PMID:19574279|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26211615|PMID:28492532|PMID:9829912 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:2377 multiple sclerosis ISO RGD:737311 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:2394 ovarian cancer ISO RGD:737311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24727139|PMID:24728327|PMID:25741868|PMID:27498913|PMID:28492532 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:2975 cystic kidney disease ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:25741868 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:305 carcinoma ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737311 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:19065635|REF_RGD_ID:2325022 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:737311 D RGD:7240710 20180130 OMIM 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:4450 renal cell carcinoma ISO RGD:737311 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma with paraneoplastic erythrocytosis PMID:10567493|PMID:10900011|PMID:11309459|PMID:11331612|PMID:11921283|PMID:11986208|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:14973063|PMID:15300849|PMID:15607616|PMID:16452184|PMID:17102069|PMID:17102088|PMID:17661816|PMID:18446368|PMID:18567581|PMID:18836774|PMID:19270817|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20120764|PMID:20660572|PMID:21362373|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23772956|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27527340|PMID:27539324|PMID:27617348|PMID:27811160|PMID:28492532|PMID:28944243|PMID:29124493|PMID:29616089|PMID:30042107|PMID:32671223|PMID:33720516|PMID:35008334|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8956040|PMID:9156047|PMID:9452032|PMID:9829911|PMID:9829912 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:4465 papillary renal cell carcinoma ISO RGD:737311 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:10567493|PMID:10900011|PMID:11921283|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:14973063|PMID:15300849|PMID:17102069|PMID:18446368|PMID:18836774|PMID:19270817|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20120764|PMID:20660572|PMID:21362373|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28944243|PMID:29616089|PMID:30042107|PMID:33720516|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8730290|PMID:8956040|PMID:9156047|PMID:9452032|PMID:9829911|PMID:9829912 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:4624 Ollier disease ISO RGD:737311 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Enchondromatosis | ClinVar Annotator: match by term: Multiple enchondromatosis PMID:10088816|PMID:10567493|PMID:10612827|PMID:10761708|PMID:11106358|PMID:11257211|PMID:11739384|PMID:12202531|PMID:12414898|PMID:15300849|PMID:17024664|PMID:19228690|PMID:19408298|PMID:19574279|PMID:19906784|PMID:20151405|PMID:20447124|PMID:21715564|PMID:22234250|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24055113|PMID:24969085|PMID:25157968|PMID:25637381|PMID:25741868|PMID:26211615|PMID:27527340|PMID:28492532|PMID:28503092|PMID:29790589|PMID:30877234|PMID:36480544|PMID:7563486|PMID:7987306|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9681856|PMID:9829911|PMID:9829912 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:5119 ovarian cyst susceptibility ISO RGD:1318722 D RGD:9068941 20230128 RGD PMID:29684361|REF_RGD_ID:155804292 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:630 genetic disease ISO RGD:737311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12202531|PMID:16199547|PMID:20233476|PMID:20518900|PMID:20850701|PMID:27527340|PMID:28492532|PMID:29891534|PMID:30900640|PMID:31350093|PMID:8956040|PMID:9829912 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:6500 cerebellar angioblastoma ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar hemangioblastoma PMID:10567493|PMID:12114495|PMID:15611064|PMID:22799452|PMID:23384228|PMID:25741868|PMID:28492532|PMID:7728151|PMID:7987306 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:657 adenoma ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737311 D RGD:9068941 20230202 RGD PMID:31321740|REF_RGD_ID:155882550 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:687 hepatoblastoma ISO RGD:737311 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:10567493|PMID:10612827|PMID:10761708|PMID:11106358|PMID:11257211|PMID:11739384|PMID:12202531|PMID:12414898|PMID:15300849|PMID:19228690|PMID:19574279|PMID:19906784|PMID:20447124|PMID:22234250|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24055113|PMID:25157968|PMID:25637381|PMID:25741868|PMID:26211615|PMID:27527340|PMID:28492532|PMID:28503092|PMID:29790589|PMID:30877234|PMID:7563486|PMID:8634692|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9829911|PMID:9829912 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:8432 polycythemia ISO RGD:737311 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Polycythemia PMID:15642680|PMID:25637381|PMID:25741868|PMID:28492532 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9000039 Spinal Cord Injuries ISO RGD:3960 D RGD:9068941 20200609 RGD PMID:20125055|REF_RGD_ID:2325181 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9002265 Kidney Neoplasms ISO RGD:3960 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:11880179|REF_RGD_ID:625549 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9002265 Kidney Neoplasms ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11880179 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9003837 Au-Kline Syndrome ISO RGD:737311 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Au-Kline syndrome PMID:11331612|PMID:12000816|PMID:12393546|PMID:12414898|PMID:12844285|PMID:15642680|PMID:16452184|PMID:18567581|PMID:18836774|PMID:19030229|PMID:19228690|PMID:19602254|PMID:23772956|PMID:24033266|PMID:25741868|PMID:26845104|PMID:28492532|PMID:28873162|PMID:7563486|PMID:7987306|PMID:8707293|PMID:8772572|PMID:8956040|PMID:9829911 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:737311 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:10102622|PMID:10766184|PMID:10900011|PMID:12000816|PMID:14722919|PMID:14973063|PMID:15300849|PMID:17102069|PMID:18836774|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20351605|PMID:20660572|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23541568|PMID:24033266|PMID:24583008|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25583177|PMID:25741868|PMID:25966224|PMID:26211615|PMID:26467025|PMID:26681312|PMID:26822237|PMID:27539324|PMID:27651169|PMID:28454591|PMID:28492532|PMID:28873162|PMID:28944243|PMID:29616089|PMID:29790589|PMID:29978187|PMID:30042107|PMID:31368132|PMID:34566400|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7987306|PMID:8270255|PMID:8592333|PMID:8956040|PMID:9156047|PMID:9671762|PMID:9751722|PMID:9829911|PMID:9829912 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9005154 Myoclonic Epilepsies ISO RGD:737311 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9005172 Lung Neoplasms ISO RGD:737311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:737311 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10567493|PMID:10900011|PMID:11309459|PMID:11331612|PMID:11921283|PMID:12000816|PMID:12114495|PMID:14722919|PMID:14767570|PMID:14973063|PMID:15300849|PMID:16452184|PMID:17102069|PMID:17661816|PMID:18446368|PMID:18567581|PMID:18836774|PMID:19270817|PMID:19464396|PMID:19574279|PMID:19602254|PMID:20120764|PMID:20660572|PMID:21362373|PMID:21463266|PMID:22799452|PMID:23512077|PMID:23772956|PMID:23842656|PMID:24206762|PMID:24301059|PMID:24707167|PMID:25119015|PMID:25157968|PMID:25563310|PMID:25720320|PMID:25741868|PMID:25867206|PMID:26822237|PMID:27527340|PMID:27539324|PMID:27617348|PMID:28492532|PMID:28944243|PMID:29616089|PMID:30042107|PMID:33720516|PMID:35008334|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7784063|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8270255|PMID:8522307|PMID:8592333|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8956040|PMID:9156047|PMID:9452032|PMID:9829911|PMID:9829912 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007 sudden infant death syndrome ISO RGD:11485 D RGD:9068941 20220825 MouseDO OMIM:272120 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28643803|PMID:28724667|PMID:28775317|PMID:28873162|PMID:28944243|PMID:29124493|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29748190|PMID:29790589|PMID:29891534|PMID:29949369|PMID:29978187|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30338240|PMID:30877234|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31383958|PMID:31397861|PMID:31528828|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32671223|PMID:33362715|PMID:34439168|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10088816|PMID:10102622|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11058902|PMID:11106358|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11793370|PMID:11921283|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12114495|PMID:12202531|PMID:12351569|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12510195|PMID:12538644|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12912922|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14636579|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:15109448|PMID:15177666|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15824109|PMID:15932632|PMID:16142346|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16595991|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17024664|PMID:17102069|PMID:17102082|PMID:17102088|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17406817|PMID:17407064|PMID:17526729|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17992257|PMID:17997830|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19270817|PMID:19280651|PMID:19304954|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19808854|PMID:19906784|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20120764|PMID:20145706|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21362373|PMID:21389259|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21715564|PMID:21784903|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22145147|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23298237|PMID:23318261|PMID:23397066|PMID:23403324|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24206762|PMID:24301059|PMID:24466223|PMID:24518179|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24969085|PMID:24977658|PMID:25078357|PMID:25119015|PMID:25157968|PMID:25371412|PMID:25405498|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25637381|PMID:25661653|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25825477|PMID:25867206|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28388566|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28724667|PMID:28775317|PMID:28873162|PMID:28944243|PMID:29124493|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29748190|PMID:29790589 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29891534|PMID:29949369|PMID:29978187|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30338240|PMID:30877234|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31528828|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32671223|PMID:33362715|PMID:33720516|PMID:34439168|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29790589|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30338240|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31453227|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32671223|PMID:32869749|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35734542|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10088816|PMID:10102622|PMID:10205047|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10612832|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11793370|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11986208|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14636579|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:15109448|PMID:15177666|PMID:15241800|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15709172|PMID:15824109|PMID:15881703|PMID:15921368|PMID:15921386|PMID:15932632|PMID:16142346|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17024664|PMID:17102069|PMID:17102080|PMID:17102082|PMID:17102087|PMID:17102088|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17407064|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17922902|PMID:17992257|PMID:17997830|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19270817|PMID:19304954|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19558618|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20145706|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21362373|PMID:21389259|PMID:21449869|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22145147|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22703879|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23056405|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23298237|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24147197|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24466223|PMID:24518179|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24969085|PMID:24977658|PMID:24986515|PMID:25069792|PMID:25078357|PMID:25081542|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25661653|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25825477|PMID:25867206|PMID:25885250 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26224408|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26639818|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27578599|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29790589|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31453227|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32671223|PMID:32869749|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35734542|PMID:36281577|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8700833|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9106522|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25825477|PMID:25867206|PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26224408|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26639818|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27578599|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29790589|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31453227|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32671223|PMID:32869749|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33745191|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35734542|PMID:35938916|PMID:36281577|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8700833|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9106522|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10088816|PMID:10102622|PMID:10205047|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10612832|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11148816|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11793370|PMID:11835384|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11986208|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14636579|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:15002726|PMID:15109448|PMID:15177666|PMID:15241800|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15709172|PMID:15824109|PMID:15881703|PMID:15921368|PMID:15921386|PMID:15932632|PMID:16142346|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17024664|PMID:17102069|PMID:17102080|PMID:17102082|PMID:17102087|PMID:17102088|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17407064|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17922902|PMID:17992257|PMID:17997830|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19270817|PMID:19304954|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19558618|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20145706|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21362373|PMID:21389259|PMID:21449869|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22145147|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22703879|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23056405|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23298237|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407287|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24112165|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24147197|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24466223|PMID:24518179|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24969085|PMID:24977658|PMID:24986515|PMID:25069792|PMID:25078357|PMID:25081542|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25661653|PMID:25715769 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:25720320|PMID:25741868|PMID:25825477|PMID:25867206|PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26224408|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27578599|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29790589|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31453227|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32671223|PMID:32869749|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33745191|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35734542|PMID:35938916|PMID:36281577|PMID:36384467|PMID:36480544|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8700833|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9106522|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10088816|PMID:10102622|PMID:10205047|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10612832|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11148816|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11793370|PMID:11835384|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11986208|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14636579|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:15002726|PMID:15109448|PMID:15177666|PMID:15241800|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15709172|PMID:15824109|PMID:15881703|PMID:15918937|PMID:15921368|PMID:15921386|PMID:15932632|PMID:16142346|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17024664|PMID:17102069|PMID:17102080|PMID:17102082|PMID:17102087|PMID:17102088|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17407064|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17922902|PMID:17992257|PMID:17997830|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19270817|PMID:19304954|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19558618|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20145706|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21362373|PMID:21389259|PMID:21449869|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22145147|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22703879|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23056405|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23298237|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407287|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24112165|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24147197|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24466223|PMID:24518179|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24969085|PMID:24977658|PMID:24986515|PMID:25069792|PMID:25078357|PMID:25081542|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25562111|PMID:25563310|PMID:25583177|PMID:25586603|PMID:25637381|PMID:25661653 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25715769|PMID:25720320|PMID:25741868|PMID:25825477|PMID:25867206|PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26224408|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27578599|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29790589|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31453227|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32671223|PMID:32869749|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33745191|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35734542|PMID:35938916|PMID:36281577|PMID:36384467|PMID:36480544|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8700833|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9067265|PMID:9106522|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10088816|PMID:10102622|PMID:10205047|PMID:10340905|PMID:10364675|PMID:10408776|PMID:10458336|PMID:10533030|PMID:1056348|PMID:10563480|PMID:10567493|PMID:10570625|PMID:10581162|PMID:10587522|PMID:10612827|PMID:10612832|PMID:10627136|PMID:10697963|PMID:10761708|PMID:10766184|PMID:10823831|PMID:10862095|PMID:10878807|PMID:10900011|PMID:11058902|PMID:11106358|PMID:11114638|PMID:11148816|PMID:11160785|PMID:11257211|PMID:11309459|PMID:11331612|PMID:11331613|PMID:11409863|PMID:11483638|PMID:11505222|PMID:11688398|PMID:11709017|PMID:11739384|PMID:11793370|PMID:11835384|PMID:11865071|PMID:11896624|PMID:11921283|PMID:11986208|PMID:11987242|PMID:12000816|PMID:12004076|PMID:12050673|PMID:12114475|PMID:12114495|PMID:12202531|PMID:12393546|PMID:12414898|PMID:12415268|PMID:12500216|PMID:12510195|PMID:12538644|PMID:12603429|PMID:12624160|PMID:12629069|PMID:12702509|PMID:12807974|PMID:12844285|PMID:12912922|PMID:13985160|PMID:14500403|PMID:14556007|PMID:14604959|PMID:14636579|PMID:14691445|PMID:14722919|PMID:14726398|PMID:14767570|PMID:14965365|PMID:14973063|PMID:14987375|PMID:15002726|PMID:15109448|PMID:15177666|PMID:15241800|PMID:15300849|PMID:15574766|PMID:15607616|PMID:15611064|PMID:15642664|PMID:15642680|PMID:15709172|PMID:15824109|PMID:15881703|PMID:15918937|PMID:15921368|PMID:15921386|PMID:15932632|PMID:16142346|PMID:16210343|PMID:16261165|PMID:16314641|PMID:16452184|PMID:16488999|PMID:16502427|PMID:16505488|PMID:16595991|PMID:16669786|PMID:16775032|PMID:16809612|PMID:16847331|PMID:16868829|PMID:16884327|PMID:16952288|PMID:16969113|PMID:17024664|PMID:17102069|PMID:17102080|PMID:17102082|PMID:17102083|PMID:17102087|PMID:17102088|PMID:17159241|PMID:17264095|PMID:17350623|PMID:17392848|PMID:17407064|PMID:17537157|PMID:17576681|PMID:17640059|PMID:17661816|PMID:17688370|PMID:17906660|PMID:17922902|PMID:17992257|PMID:17997830|PMID:18067796|PMID:18195360|PMID:18205710|PMID:18209888|PMID:18446368|PMID:18544564|PMID:18551016|PMID:18567581|PMID:18580449|PMID:18584357|PMID:18676741|PMID:18685280|PMID:18836774|PMID:18928468|PMID:19009041|PMID:19029228|PMID:19030229|PMID:19215943|PMID:19228690|PMID:19252526|PMID:19270817|PMID:19304954|PMID:19336503|PMID:19408298|PMID:19464396|PMID:19494350|PMID:19558618|PMID:19574279|PMID:19576851|PMID:19602254|PMID:19620968|PMID:19694021|PMID:19763184|PMID:19808854|PMID:19906784|PMID:19949673|PMID:19958924|PMID:19996202|PMID:20034980|PMID:20054297|PMID:20064270|PMID:20120764|PMID:20145706|PMID:20151405|PMID:20223044|PMID:20233476|PMID:20351605|PMID:20388653|PMID:20447124|PMID:20518900|PMID:20560986|PMID:20567917|PMID:20583150|PMID:20660572|PMID:20846682|PMID:20855504|PMID:20952280|PMID:21204227|PMID:21362373|PMID:21389259|PMID:21449869|PMID:21454469|PMID:21463266|PMID:21606165|PMID:21685897|PMID:21713522|PMID:21715564|PMID:21784903|PMID:21791076|PMID:21876117|PMID:21972040|PMID:21993671|PMID:22071692|PMID:22105611|PMID:22105711|PMID:22145147|PMID:22156657|PMID:22234250|PMID:22241717|PMID:22357542|PMID:22393103|PMID:22438210|PMID:22462637|PMID:22517557|PMID:22649785|PMID:22683710|PMID:22703879|PMID:22799452|PMID:22825683|PMID:23015148|PMID:23056405|PMID:23070752|PMID:23102223|PMID:23143947|PMID:23298237|PMID:23318261|PMID:23327821|PMID:23384228|PMID:23397066|PMID:23403324|PMID:23407287|PMID:23407919|PMID:23434161|PMID:23512077|PMID:23541568|PMID:23606570|PMID:23626751|PMID:23632291|PMID:23660872|PMID:23673869|PMID:23772956|PMID:23840444|PMID:23842656|PMID:23845641|PMID:23859443|PMID:23990664|PMID:23990666|PMID:24002598|PMID:24033266|PMID:24055113|PMID:24102379|PMID:24112165|PMID:24115288|PMID:24132471|PMID:24134185|PMID:24147197|PMID:24206762|PMID:24301059|PMID:24335534|PMID:24339559|PMID:24466223|PMID:24518179|PMID:24555745|PMID:24581539|PMID:24583008|PMID:24707167|PMID:24727139|PMID:24728327|PMID:24729484|PMID:24969085|PMID:24977658|PMID:24986515|PMID:25069792|PMID:25078357|PMID:25081542|PMID:25119015|PMID:25157968|PMID:25282218|PMID:25310726|PMID:25371412|PMID:25405498|PMID:25562111|PMID:25563310 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737311 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25583177|PMID:25586603|PMID:25637381|PMID:25661653|PMID:25715769|PMID:25720320|PMID:25741868|PMID:25825477|PMID:25867206|PMID:25885250|PMID:25952756|PMID:25966224|PMID:25985138|PMID:26211615|PMID:26224408|PMID:26228213|PMID:26268347|PMID:26323595|PMID:26332594|PMID:26467025|PMID:26503325|PMID:26580448|PMID:26622630|PMID:26681312|PMID:26763786|PMID:26822237|PMID:26845104|PMID:26920352|PMID:26934580|PMID:26957611|PMID:26973240|PMID:27034144|PMID:27057652|PMID:27146957|PMID:27179072|PMID:27311873|PMID:27439424|PMID:27498913|PMID:27527340|PMID:27530247|PMID:27539324|PMID:27578599|PMID:27617348|PMID:27651169|PMID:27682873|PMID:27730413|PMID:27785399|PMID:27811160|PMID:28052007|PMID:28202063|PMID:28288108|PMID:28388566|PMID:28432847|PMID:2844285|PMID:28454591|PMID:28469506|PMID:28492532|PMID:28503092|PMID:28643803|PMID:28650583|PMID:28724667|PMID:28775317|PMID:28849724|PMID:28873162|PMID:28944243|PMID:28951115|PMID:28973655|PMID:29022557|PMID:29124493|PMID:29294023|PMID:29595810|PMID:29607586|PMID:29616089|PMID:29625052|PMID:29662268|PMID:29684080|PMID:29748190|PMID:29749453|PMID:29790589|PMID:29891534|PMID:29946849|PMID:29949369|PMID:29978187|PMID:30006056|PMID:30042107|PMID:30093976|PMID:30105105|PMID:30185211|PMID:30194449|PMID:30278534|PMID:30338240|PMID:30522901|PMID:30548481|PMID:30877234|PMID:30902965|PMID:30943211|PMID:30946460|PMID:31034483|PMID:31087189|PMID:31132167|PMID:31149315|PMID:31159747|PMID:31337753|PMID:31350093|PMID:31368132|PMID:31383958|PMID:31397861|PMID:31447099|PMID:31453227|PMID:31528828|PMID:31538058|PMID:31620170|PMID:31666924|PMID:31779674|PMID:32106822|PMID:32238909|PMID:32303605|PMID:32671223|PMID:32869749|PMID:33151962|PMID:33219105|PMID:33362715|PMID:33720516|PMID:33745191|PMID:33840814|PMID:33938902|PMID:34036514|PMID:34109129|PMID:34122352|PMID:34416425|PMID:34439168|PMID:34566400|PMID:35008334|PMID:35734542|PMID:35938916|PMID:36281577|PMID:36384467|PMID:36480544|PMID:7553625|PMID:7563486|PMID:7660122|PMID:7728151|PMID:7759077|PMID:7784063|PMID:7915601|PMID:7977367|PMID:7987306|PMID:7987327|PMID:8187067|PMID:8239848|PMID:8270255|PMID:8493574|PMID:8522307|PMID:8550742|PMID:8592333|PMID:8634692|PMID:8700833|PMID:8707293|PMID:8730290|PMID:8772572|PMID:8825918|PMID:8825919|PMID:8829648|PMID:8863170|PMID:8956040|PMID:9058738|PMID:9067265|PMID:9106522|PMID:9143408|PMID:9156047|PMID:9215674|PMID:9329368|PMID:9398721|PMID:9399847|PMID:9435426|PMID:9452032|PMID:9452106|PMID:9463336|PMID:9536098|PMID:9663592|PMID:9671762|PMID:9681856|PMID:9681858|PMID:9751722|PMID:9770531|PMID:9829911|PMID:9829912|PMID:9880225 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:737311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 8850892 Vhl von Hippel-Lindau tumor suppressor gene DOID:9970 obesity ISO RGD:737311 D RGD:9068941 20230202 RGD associated with hepatocellular carcinoma;RNA:decreased expression:liver: PMID:31321740|REF_RGD_ID:155882550 8850899 Ybey ybeY metalloendoribonuclease gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1318661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8850899 Ybey ybeY metalloendoribonuclease gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8850899 Ybey ybeY metalloendoribonuclease gene DOID:0110266 cataract 9 multiple types ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8850899 Ybey ybeY metalloendoribonuclease gene DOID:12849 autistic disorder ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8850899 Ybey ybeY metalloendoribonuclease gene DOID:630 genetic disease ISO RGD:1318661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850899 Ybey ybeY metalloendoribonuclease gene DOID:891 progressive myoclonus epilepsy ISO RGD:1318661 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8850899 Ybey ybeY metalloendoribonuclease gene DOID:9263 homocystinuria ISO RGD:1318661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8850899 Ybey ybeY metalloendoribonuclease gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318661 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8850923 Ffar3 free fatty acid receptor 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1322276 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8850923 Ffar3 free fatty acid receptor 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1322276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8850923 Ffar3 free fatty acid receptor 3 gene DOID:10825 essential hypertension ISO RGD:1322276 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 8850923 Ffar3 free fatty acid receptor 3 gene DOID:543 dystonia ISO RGD:1322276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8850923 Ffar3 free fatty acid receptor 3 gene DOID:630 genetic disease ISO RGD:1322276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:0050557 congenital muscular dystrophy ISO RGD:1319699 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:19556464|PMID:25741868|PMID:26925222|PMID:27854218 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1319699 D RGD:9068941 20210716 RGD PMID:25195038|REF_RGD_ID:149735347 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:0050902 medulloblastoma ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:0060852 Pierson syndrome ISO RGD:1319699 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME PMID:19556464|PMID:21266384|PMID:24839956|PMID:25741868|PMID:26925222|PMID:28492532|PMID:28862265|PMID:33372952 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:0080615 nephroma ISO RGD:1319699 D RGD:9068941 20210716 RGD DNA:mutations: : PMID:24481001|REF_RGD_ID:149735348 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:0081063 DICER1 syndrome ISO RGD:1319699 D RGD:7240710 20220406 OMIM 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:0081063 DICER1 syndrome ISO RGD:1319699 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:18570301|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:22717647|PMID:23068969|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23622242|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24628552|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24823459|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25190313|PMID:25231023|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25525159|PMID:25526195|PMID:25670082|PMID:25670083|PMID:25741868|PMID:25803323|PMID:25836323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26556299|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27854218|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28459098|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29276006|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29469200|PMID:29474644|PMID:29538609|PMID:29625052|PMID:29633305|PMID:29641532|PMID:29660837|PMID:29698806|PMID:29706542|PMID:29708584|PMID:29726952|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29938629|PMID:29943907|PMID:29945567|PMID:30014022|PMID:30072170|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31278746|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31417090|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32371905|PMID:32692439|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33208384|PMID:33372952|PMID:33484847|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33767345|PMID:33782093|PMID:34291157|PMID:34313605|PMID:34913555|PMID:35194848|PMID:9295070|PMID:9345104|PMID:9536098 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:0110464 autosomal recessive nonsyndromic deafness 103 ISO RGD:1319699 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 103 PMID:25741868|PMID:28492532 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:0111640 autosomal recessive nonsyndromic deafness 111 ISO RGD:1319699 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 111 PMID:28492532 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1319699 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:10534 stomach cancer disease_progression ISO RGD:1319699 D RGD:9068941 20210716 RGD PMID:18167183|REF_RGD_ID:149735323 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:10629 microphthalmia ISO RGD:1319699 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:25741868|PMID:26893459|PMID:28492532 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:11198 DiGeorge syndrome ISO RGD:1319700 D RGD:9068941 20220825 MouseDO OMIM:188400 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:12930 dilated cardiomyopathy ISO RGD:1319700 D RGD:9068941 20220825 MouseDO 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:1324 lung cancer exacerbates ISO RGD:1319700 D RGD:9068941 20210716 RGD PMID:19903759|REF_RGD_ID:149735199 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:14228 oligospermia ISO RGD:1319699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22381205 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:1612 breast cancer ISO RGD:1319699 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:32714280 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:1664 pineoblastoma ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pineoblastoma PMID:16199547|PMID:19556464|PMID:21266384|PMID:21882293|PMID:24909177|PMID:25022261|PMID:25118636|PMID:25741868|PMID:26925222|PMID:27459524|PMID:28492532|PMID:28960912|PMID:30097050 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:2154 nephroblastoma ISO RGD:1319699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:2394 ovarian cancer ISO RGD:1319699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:289 endometriosis ISO RGD:1319699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:3247 rhabdomyosarcoma ISO RGD:1319699 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:19556464|PMID:21266384|PMID:24839956|PMID:25741868|PMID:26925222|PMID:28492532|PMID:28624956|PMID:28862265|PMID:30266945|PMID:33372952 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:3525 middle cerebral artery infarction ISO RGD:1309381 D RGD:9068941 20210723 RGD mRNA:decreased expression:brain: PMID:26294080|REF_RGD_ID:11553310 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:4769 pleuropulmonary blastoma ISO RGD:1319699 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | ClinVar Annotator: match by term: Pleuropulmonary blastoma PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:18570301|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:22717647|PMID:23068969|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23622242|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24151152|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24628552|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24823459|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25190313|PMID:25231023|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25525159|PMID:25526195|PMID:25670082|PMID:25670083|PMID:25741868|PMID:25803323|PMID:25836323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26556299|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27854218|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28459098|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28834809|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29276006|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29469200|PMID:29474644|PMID:29538609|PMID:29625052|PMID:29633305|PMID:29641532|PMID:29660837|PMID:29698806|PMID:29706542|PMID:29708584|PMID:29726952|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29938629|PMID:29943907|PMID:29945567|PMID:30014022|PMID:30072170|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31278746|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31417090|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32371905|PMID:32692439|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33208384|PMID:33372952|PMID:33484847|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33767345|PMID:33782093|PMID:34291157|PMID:34313605|PMID:34913555|PMID:35194848|PMID:9295070|PMID:9345104|PMID:9536098 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:4791 supratentorial primitive neuroectodermal tumor ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Supratentorial primitive neuroectodermal tumor PMID:21882293|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24675358|PMID:24909177|PMID:25190313|PMID:25356068|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26475046|PMID:26555935|PMID:26556299|PMID:26841698|PMID:26925222|PMID:26928971|PMID:27126690|PMID:27459524|PMID:28177962|PMID:28222777|PMID:28492532|PMID:28862265|PMID:29315962|PMID:29881993|PMID:30014022|PMID:30266945|PMID:30649606 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:5223 infertility ISO RGD:1319700 D RGD:9068941 20210820 RGD PMID:25525274|REF_RGD_ID:150340620 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:630 genetic disease ISO RGD:1319699 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319699 D RGD:9068941 20210716 RGD associated with hepatitis B; DNA:SNP: :rs1057035 T>C (human) PMID:23868705|REF_RGD_ID:149735346 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:768 retinoblastoma exacerbates ISO RGD:1319700 D RGD:9068941 20210716 RGD DNA:deletion:haploinsufficiency PMID:20019750|REF_RGD_ID:149735324 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:1319699 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 PMID:19556464|PMID:25741868|PMID:26925222 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9004454 Multinodular Goiter 1 ISO RGD:1319699 D RGD:7240710 20220216 OMIM 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9004454 Multinodular Goiter 1 ISO RGD:1319699 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Euthyroid goiter | ClinVar Annotator: match by term: Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors PMID:16199547|PMID:18570301|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21882293|PMID:22187960|PMID:24708902|PMID:24728327|PMID:24909177|PMID:25741868|PMID:26033159|PMID:26467025|PMID:26475046|PMID:26545620|PMID:26555935|PMID:26577641|PMID:26925222|PMID:27459524|PMID:28323992|PMID:28492532|PMID:28524158|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29881993|PMID:30178239|PMID:30989777|PMID:32291395|PMID:32714280|PMID:33484847|PMID:33767345|PMID:34291157|PMID:34313605|PMID:34913555|PMID:6261577|PMID:9295070|PMID:9345104 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9005606 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor ISO RGD:1319699 D RGD:7240710 20190315 OMIM 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9005606 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor ISO RGD:1319699 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GLOW SYNDROME PMID:16199547|PMID:17576681|PMID:19556464|PMID:21205968|PMID:21266384|PMID:21882293|PMID:23728841|PMID:24481001|PMID:24513630|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24728327|PMID:24839956|PMID:24909177|PMID:25022261|PMID:25190313|PMID:25356068|PMID:25451712|PMID:25525159|PMID:25670082|PMID:25741868|PMID:25836323|PMID:26033159|PMID:26467025|PMID:26475046|PMID:26555935|PMID:26556299|PMID:26577641|PMID:26580448|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:27126690|PMID:27459524|PMID:27819237|PMID:27930734|PMID:28177962|PMID:28222777|PMID:28492532|PMID:28524158|PMID:28624956|PMID:28748527|PMID:28825729|PMID:28862265|PMID:29315962|PMID:29399970|PMID:29881993|PMID:29883781|PMID:29945567|PMID:30014022|PMID:30178239|PMID:30266945|PMID:30649606|PMID:30672147|PMID:31820118|PMID:31838154|PMID:31911633|PMID:32714280|PMID:32832834|PMID:33630087|PMID:33729574|PMID:33782093|PMID:34291157|PMID:9536098 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22180160|PMID:22187960|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25348012|PMID:25451712|PMID:25670082|PMID:25741868|PMID:26241669|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26628006|PMID:26666178|PMID:26822237|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:27050224|PMID:27459524|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28012864|PMID:28097783|PMID:28166811|PMID:28202063|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28748527|PMID:28825729|PMID:28862265|PMID:29037807|PMID:29187512|PMID:29351919|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29762508|PMID:29881993|PMID:29883781|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31342592|PMID:33718253|PMID:9536098 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22180160|PMID:22187960|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25348012|PMID:25451712|PMID:25670082|PMID:25741868|PMID:26241669|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26628006|PMID:26666178|PMID:26822237|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:27050224|PMID:27459524|PMID:27819237|PMID:27896549|PMID:27930734|PMID:28012864|PMID:28097783|PMID:28202063|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28748527|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29351919|PMID:29399970|PMID:29474644|PMID:29641532|PMID:29708584|PMID:29762508|PMID:29881993|PMID:29883781|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31342592|PMID:31820118|PMID:32714280|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34313605|PMID:9536098 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33372952|PMID:33630087|PMID:33718253|PMID:33729574|PMID:34291157|PMID:34313605|PMID:9345104|PMID:9536098 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25525159|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32371905|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33484847|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33767345|PMID:34291157|PMID:34313605|PMID:34913555|PMID:35194848|PMID:9345104|PMID:9536098 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319699 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15242644|PMID:15987463|PMID:16095561|PMID:16199547|PMID:17576681|PMID:17920623|PMID:17923214|PMID:18453628|PMID:19556464|PMID:21036787|PMID:21205968|PMID:21266384|PMID:21346072|PMID:21501861|PMID:21882293|PMID:22157934|PMID:22180160|PMID:22187960|PMID:22546613|PMID:23132766|PMID:23418872|PMID:23547758|PMID:23620094|PMID:23728841|PMID:23868280|PMID:24033266|PMID:24065110|PMID:24136150|PMID:24481001|PMID:24617712|PMID:24675358|PMID:24676357|PMID:24708902|PMID:24728327|PMID:24839956|PMID:24909177|PMID:24909261|PMID:25022261|PMID:25118636|PMID:25176334|PMID:25348012|PMID:25356068|PMID:25451712|PMID:25525159|PMID:25670082|PMID:25741868|PMID:25803323|PMID:25998712|PMID:26033159|PMID:26033501|PMID:26241669|PMID:26289771|PMID:26408257|PMID:26428316|PMID:26461232|PMID:26467025|PMID:26475046|PMID:26517685|PMID:26526666|PMID:26545620|PMID:26555935|PMID:26566882|PMID:26577641|PMID:26580448|PMID:26592504|PMID:26666178|PMID:26822237|PMID:26841698|PMID:26886166|PMID:26893459|PMID:26925222|PMID:26928971|PMID:26983701|PMID:27036314|PMID:27050224|PMID:27126690|PMID:27459524|PMID:27494611|PMID:27664536|PMID:27697588|PMID:27784193|PMID:27819237|PMID:27830405|PMID:27854218|PMID:27896549|PMID:27930734|PMID:28007021|PMID:28012864|PMID:28097783|PMID:28177962|PMID:28202063|PMID:28222777|PMID:28323992|PMID:28492532|PMID:28502826|PMID:28524158|PMID:28562508|PMID:28624956|PMID:28654427|PMID:28688118|PMID:28748527|PMID:28766837|PMID:28825729|PMID:28862265|PMID:28873162|PMID:28960912|PMID:29037807|PMID:29187512|PMID:29276006|PMID:29315962|PMID:29351919|PMID:29395683|PMID:29399970|PMID:29459759|PMID:29474644|PMID:29538609|PMID:29641532|PMID:29660837|PMID:29708584|PMID:29753010|PMID:29762508|PMID:29881993|PMID:29883781|PMID:29943907|PMID:29945567|PMID:30093976|PMID:30097050|PMID:30178239|PMID:30260442|PMID:30266945|PMID:30339877|PMID:30446821|PMID:30585947|PMID:30597651|PMID:30649606|PMID:30665929|PMID:30672147|PMID:30989777|PMID:31067372|PMID:31285663|PMID:31300551|PMID:31342592|PMID:31820118|PMID:31838154|PMID:31883967|PMID:31900434|PMID:31911633|PMID:32291395|PMID:32371905|PMID:32714280|PMID:32832834|PMID:32973888|PMID:33158809|PMID:33372952|PMID:33484847|PMID:33630087|PMID:33718253|PMID:33729574|PMID:33767345|PMID:33782093|PMID:34291157|PMID:34313605|PMID:34913555|PMID:35194848|PMID:9345104|PMID:9536098 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9007188 Liver Neoplasms ISO RGD:1319699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478143 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9008053 Embryonal Rhabdomyosarcoma 2 ISO RGD:1319699 D RGD:7240710 20180130 OMIM 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9008053 Embryonal Rhabdomyosarcoma 2 ISO RGD:1319699 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2 PMID:16199547|PMID:19556464|PMID:21266384|PMID:21882293|PMID:24728327|PMID:24909177|PMID:25022261|PMID:25118636|PMID:25741868|PMID:26467025|PMID:26475046|PMID:26545620|PMID:26555935|PMID:26577641|PMID:26925222|PMID:27459524|PMID:28492532|PMID:28524158|PMID:28873162|PMID:29399970|PMID:30097050|PMID:30446821|PMID:32714280|PMID:34291157|PMID:34313605 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9008939 Breast Neoplasms ISO RGD:1319699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:21266384|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29474644|PMID:32714280 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9256 colorectal cancer disease_progression ISO RGD:1319699 D RGD:9068941 20210716 RGD PMID:24649159|REF_RGD_ID:149735326 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9256 colorectal cancer susceptibility ISO RGD:1319699 D RGD:9068941 20210716 RGD DNA:SNP: :rs3742330 A>G (human) PMID:30833603|REF_RGD_ID:149735345 8850929 Dicer1 dicer 1, ribonuclease III gene DOID:9351 diabetes mellitus ISO RGD:1319700 D RGD:9068941 20210723 RGD PMID:22216196|REF_RGD_ID:149735536 8850963 Mansc4 MANSC domain containing 4 gene DOID:630 genetic disease ISO RGD:5132067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0050860 colorectal adenoma ISO RGD:737596 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0050861 colorectal adenocarcinoma ISO RGD:737596 D RGD:9068941 20200609 RGD PMID:21122381|REF_RGD_ID:13217408 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060578 Noonan syndrome 1 ISO RGD:737596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:10064593|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603487|PMID:19020799|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20683980|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22781091|PMID:22821648|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26266034|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30384889|PMID:30417923|PMID:30732632|PMID:31145547|PMID:31324109|PMID:31395954|PMID:31560489|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34006472|PMID:34136434|PMID:35050212 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060581 Noonan syndrome 3 ISO RGD:737596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:17603482|PMID:22821648|PMID:25741868|PMID:28492532|PMID:30157809|PMID:30732632 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060583 Noonan syndrome 5 ISO RGD:737596 D RGD:7240710 20180130 OMIM 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0060583 Noonan syndrome 5 ISO RGD:737596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Noonan syndrome 5 PMID:10064593|PMID:10497893|PMID:14701845|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603485|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27631234|PMID:27753652|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29907801|PMID:29948256|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30384889|PMID:30417923|PMID:30732632|PMID:31324109|PMID:31395954|PMID:31560489|PMID:31589614|PMID:32269299|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34006472|PMID:34136434|PMID:35050212|PMID:9536098 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737596 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12077328|PMID:17603482|PMID:17603483|PMID:17603486|PMID:17603487|PMID:20052757|PMID:20679480|PMID:20683980|PMID:21784453|PMID:22465605|PMID:22781091|PMID:23737487|PMID:23885229|PMID:24033266|PMID:24803665|PMID:25741868|PMID:26266034|PMID:26580448|PMID:28492532|PMID:28750076|PMID:29493581|PMID:29522511 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:737596 D RGD:7240710 20180130 OMIM 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:737596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 PMID:10064593|PMID:10497893|PMID:14701845|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603486|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22558107|PMID:22821648|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29907801|PMID:29948256|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30384889|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31324109|PMID:31395954|PMID:31560489|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34006472|PMID:34136434|PMID:35050212|PMID:9536098 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27040691|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28777121|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30157809|PMID:30204961|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31560489|PMID:31589614|PMID:8601312|PMID:9536098 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27040691|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28777121|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30157809|PMID:30204961|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:8601312|PMID:9536098 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26918529|PMID:27040691|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28777121|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30157809|PMID:30204961|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:8601312|PMID:9536098 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:32573669|PMID:33240318|PMID:8601312|PMID:9536098|PMID:9705288 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467025|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27763634|PMID:28069802|PMID:28166811|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:32573669|PMID:33240318|PMID:33318624|PMID:8601312|PMID:9536098|PMID:9705288 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:12925535|PMID:14701845|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22810696|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24451042|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25640679|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467025|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26656175|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28069802|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29696744|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30359267|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:31983221|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33111339|PMID:33240318|PMID:33318624|PMID:33673806|PMID:8601312|PMID:9536098|PMID:9705288 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:12925535|PMID:14701845|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22810696|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24451042|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25394791|PMID:25640679|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467025|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26656175|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28069802|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29643510|PMID:29696744|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30359267|PMID:30384889|PMID:30417923|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31589614|PMID:31983221|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33111339|PMID:33240318|PMID:33318624|PMID:33673806|PMID:8601312|PMID:9536098|PMID:9705288 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:12925535|PMID:14701845|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22810696|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24451042|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25394791|PMID:25640679|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467025|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26656175|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28069802|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29643510|PMID:29696744|PMID:29907801|PMID:29948256|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30359267|PMID:30384889|PMID:30417923|PMID:30531895|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31040167|PMID:31145547|PMID:31292302|PMID:31560489|PMID:31573083|PMID:31589614|PMID:31983221|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33111339|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34935411|PMID:8601312|PMID:9536098|PMID:9705288 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0080690 RASopathy ISO RGD:737596 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10064593|PMID:10497893|PMID:11447113|PMID:12077328|PMID:12675918|PMID:12925535|PMID:14701845|PMID:16585161|PMID:17576681|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:18553519|PMID:19020799|PMID:19357705|PMID:19568997|PMID:19723757|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22786616|PMID:22810696|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23391722|PMID:23529931|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24451042|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25394791|PMID:25640679|PMID:25706034|PMID:25741868|PMID:25862627|PMID:25974318|PMID:26266034|PMID:26467025|PMID:26467173|PMID:26580448|PMID:26619011|PMID:26656175|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28069802|PMID:28492532|PMID:28750076|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29232918|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29532030|PMID:29643510|PMID:29696744|PMID:29907801|PMID:29948256|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30204961|PMID:30359267|PMID:30384889|PMID:30417923|PMID:30531895|PMID:30548201|PMID:30732632|PMID:30904638|PMID:31030682|PMID:31040167|PMID:31145547|PMID:31292302|PMID:31324109|PMID:31395954|PMID:31560489|PMID:31573083|PMID:31589614|PMID:31983221|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33111339|PMID:33240318|PMID:33318624|PMID:33673806|PMID:33789662|PMID:34006472|PMID:34136434|PMID:34411415|PMID:34935411|PMID:35050212|PMID:35418823|PMID:9536098|PMID:9705288 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737596 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17603482|PMID:17603483|PMID:17603487|PMID:17603489|PMID:18241070|PMID:18505544|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21784453|PMID:22465605|PMID:22781091|PMID:22826437|PMID:23321623|PMID:24033266|PMID:24803665|PMID:25741868|PMID:26266034|PMID:26580448|PMID:26918529|PMID:28492532|PMID:28750076|PMID:29493581|PMID:29522511|PMID:29948256 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110432 dilated cardiomyopathy 1NN ISO RGD:737596 D RGD:7240710 20180130 OMIM 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110432 dilated cardiomyopathy 1NN ISO RGD:737596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1NN PMID:10064593|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603485|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:23312806|PMID:23321623|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26467173|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30384889|PMID:30417923|PMID:30732632|PMID:31324109|PMID:31395954|PMID:31560489|PMID:31589614|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34006472|PMID:34136434|PMID:35050212 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:737596 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:22558107|PMID:24033266|PMID:25741868|PMID:28492532 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:737596 D RGD:9068941 20200609 RGD PMID:15666389|REF_RGD_ID:13506811 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17603482|PMID:17603483 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24777450|PMID:25741868|PMID:28492532 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:737596 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24777450|PMID:25741868|PMID:28492532|PMID:29493581 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:737596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:10064593|PMID:11447113|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603489|PMID:18241070|PMID:18505544|PMID:19568997|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29907801|PMID:29948256|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30384889|PMID:30417923|PMID:30732632|PMID:31324109|PMID:31395954|PMID:31560489|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34006472|PMID:34136434|PMID:35050212 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:1790 malignant mesothelioma ISO RGD:737596 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:1909 melanoma ISO RGD:737596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30384889|PMID:30417923|PMID:30732632|PMID:31324109|PMID:31395954|PMID:31560489|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34006472|PMID:34136434|PMID:35050212 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:737596 D RGD:9068941 20200609 RGD PMID:15754006|REF_RGD_ID:13506897 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioma 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:326 ischemia ISO RGD:11215 D RGD:9068941 20200609 RGD PMID:16172266|REF_RGD_ID:1580696 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3490 Noonan syndrome ISO RGD:737596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10064593|PMID:11447113|PMID:11933072|PMID:12077328|PMID:12675918|PMID:14701845|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603484|PMID:17603485|PMID:17603486|PMID:17603487|PMID:17603488|PMID:17603489|PMID:18241070|PMID:18505544|PMID:19020799|PMID:19568997|PMID:19933846|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20679480|PMID:20683980|PMID:21339642|PMID:21440552|PMID:21784453|PMID:22190897|PMID:22389993|PMID:22465605|PMID:22558107|PMID:22781091|PMID:22821648|PMID:22824796|PMID:22826437|PMID:23312806|PMID:23321623|PMID:23737487|PMID:23877478|PMID:23885229|PMID:24033266|PMID:24732797|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:25862627|PMID:26266034|PMID:26467025|PMID:26580448|PMID:26619011|PMID:26659599|PMID:26918529|PMID:27040691|PMID:27631234|PMID:27753652|PMID:27763634|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29271604|PMID:29493581|PMID:29522511|PMID:29907801|PMID:29948256|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30157809|PMID:30384889|PMID:30417923|PMID:30732632|PMID:31030682|PMID:31145547|PMID:31292302|PMID:31324109|PMID:31395954|PMID:31560489|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34006472|PMID:34136434|PMID:34935411|PMID:35050212 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:737596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10064593|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30384889|PMID:30417923|PMID:30732632|PMID:31324109|PMID:31395954|PMID:31560489|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34006472|PMID:34136434|PMID:35050212 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16862215 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:737596 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10064593|PMID:12077328|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:30105547|PMID:30138938|PMID:30384889|PMID:31560489|PMID:32573669|PMID:33240318|PMID:8601312 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:737596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10064593|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30384889|PMID:30417923|PMID:30732632|PMID:31324109|PMID:31395954|PMID:31560489|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34006472|PMID:34136434|PMID:35050212 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:4001 ovarian carcinoma ISO RGD:737596 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:737596 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:15014358|REF_RGD_ID:14392893 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:4905 pancreatic carcinoma ISO RGD:3531 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (rat) PMID:2278633|REF_RGD_ID:14392892 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:737596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10064593|PMID:1760348|PMID:17603482|PMID:17603483|PMID:17603487|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:20683980|PMID:21440552|PMID:21784453|PMID:22389993|PMID:22465605|PMID:22781091|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24777450|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26266034|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30384889|PMID:30417923|PMID:30732632|PMID:31324109|PMID:31395954|PMID:31560489|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34006472|PMID:34136434|PMID:35050212 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:737596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:10064593|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30384889|PMID:30417923|PMID:30732632|PMID:31324109|PMID:31395954|PMID:31560489|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34006472|PMID:34136434|PMID:35050212 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737596 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:34540771 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002211 Hyperalgesia ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18976650 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002265 Kidney Neoplasms ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737596 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9002335 Lymphangiectasis ISO RGD:11215 D RGD:9068941 20200609 RGD DNA:point mutation:exon :p.S259A (mouse) PMID:23391722|REF_RGD_ID:12910710 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9003936 Cardiomegaly ISO RGD:11215 D RGD:9068941 20200609 RGD DNA:point mutation:exon:p.D486N (mouse) PMID:22826437|REF_RGD_ID:12910709 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9005141 Ventricular Tachycardia ISO RGD:737596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9005172 Lung Neoplasms ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884234 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9007096 Stroke ISO RGD:737596 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9007188 Liver Neoplasms ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499222 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:737596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10064593|PMID:1760348|PMID:17603482|PMID:17603483|PMID:19568997|PMID:19953625|PMID:20052757|PMID:20301557|PMID:21440552|PMID:21784453|PMID:22389993|PMID:23312806|PMID:23321623|PMID:23877478|PMID:24033266|PMID:24775816|PMID:24803665|PMID:25706034|PMID:25741868|PMID:26619011|PMID:26918529|PMID:27631234|PMID:28492532|PMID:28777121|PMID:28973083|PMID:28991257|PMID:29084544|PMID:29493581|PMID:29907801|PMID:30055033|PMID:30105547|PMID:30138938|PMID:30384889|PMID:30417923|PMID:30732632|PMID:31324109|PMID:31395954|PMID:31560489|PMID:32410215|PMID:32506814|PMID:32573669|PMID:32668055|PMID:32981126|PMID:33240318|PMID:33318624|PMID:33673806|PMID:34006472|PMID:34136434|PMID:35050212 8850973 Raf1 Raf-1 proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:737596 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12432273 8851001 Fbxw9 F-box and WD repeat domain containing 9 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1315938 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8851001 Fbxw9 F-box and WD repeat domain containing 9 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1315938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8851001 Fbxw9 F-box and WD repeat domain containing 9 gene DOID:0111254 glutaric acidemia I ISO RGD:1315938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8851001 Fbxw9 F-box and WD repeat domain containing 9 gene DOID:3413 alpha-mannosidosis ISO RGD:1315938 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8851001 Fbxw9 F-box and WD repeat domain containing 9 gene DOID:630 genetic disease ISO RGD:1315938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851020 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:0111942 immunodeficiency 25 ISO RGD:1350946 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 8851020 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:12336 male infertility ISO RGD:1350946 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Male infertility 8851020 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1350946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8851020 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:630 genetic disease ISO RGD:1350946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8851020 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8851020 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:9005047 Hypercalciuria, Absorptive, 2 ISO RGD:1350946 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial idiopathic hypercalciuria PMID:11932268|PMID:17576681|PMID:25741868|PMID:26787776|PMID:28492532|PMID:9536098 8851020 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1350946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 8851020 Dcaf6 DDB1 and CUL4 associated factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8851049 Cmtm3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8851049 Cmtm3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:0110255 cataract 5 multiple types ISO RGD:1318724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8851049 Cmtm3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:630 genetic disease ISO RGD:1318724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851049 Cmtm3 CKLF like MARVEL transmembrane domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8851058 Chek2 checkpoint kinase 2 gene DOID:0050671 female breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 8851058 Chek2 checkpoint kinase 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732861 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:16199547|PMID:21876083|PMID:24713400|PMID:28492532 8851058 Chek2 checkpoint kinase 2 gene DOID:0050922 gastrointestinal carcinoma ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastrointestinal carcinoma PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31409080|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034|PMID:34903604|PMID:36222830|PMID:37490054 8851058 Chek2 checkpoint kinase 2 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26506619 8851058 Chek2 checkpoint kinase 2 gene DOID:0060180 colitis ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colitis PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27711073|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:36222830|PMID:37055167|PMID:37149759 8851058 Chek2 checkpoint kinase 2 gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, mut type PMID:25085752|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27720647|PMID:28492532|PMID:30851065|PMID:32658311|PMID:32885271|PMID:33471991|PMID:35264596|PMID:35534704|PMID:35643632|PMID:37449874 8851058 Chek2 checkpoint kinase 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 8851058 Chek2 checkpoint kinase 2 gene DOID:0111252 vestibular schwannomatosis ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8851058 Chek2 checkpoint kinase 2 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27711073|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29758562|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30676620|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31447099|PMID:31589614|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32885271|PMID:32906215|PMID:32923877|PMID:33471991|PMID:33789101|PMID:34903604|PMID:35264596|PMID:35314380|PMID:35626031|PMID:35643632|PMID:36222830|PMID:36551643|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874 8851058 Chek2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:7240710 20231004 OMIM 8851058 Chek2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: CANCER PREDISPOSITION SYNDROME, CHEK2-RELATED | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26580448|PMID:26641009|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267 8851058 Chek2 checkpoint kinase 2 gene DOID:0111504 Li-Fraumeni syndrome 2 ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: CANCER PREDISPOSITION SYNDROME, CHEK2-RELATED | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30980208|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32029870|PMID:32039725|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32443704|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32975687|PMID:32980694|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34630562|PMID:34637943|PMID:34903604|PMID:34992046|PMID:35053600|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35886069|PMID:36003761|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37490054|PMID:37628581|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:7240710 20231004 OMIM 8851058 Chek2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29700698|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32090079|PMID:32119081|PMID:32183364|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162 8851058 Chek2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34072659|PMID:34130653|PMID:34299313|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:34991090|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36222830|PMID:36360192|PMID:36988593|PMID:37449874|PMID:37490054|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26580448|PMID:26641009|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29700698|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551 8851058 Chek2 checkpoint kinase 2 gene DOID:10283 prostate cancer ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32029870|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33030641|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34130653|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34622392|PMID:34630562|PMID:34903604|PMID:34991090|PMID:34992046|PMID:35220195|PMID:35264596|PMID:35350808|PMID:35402282|PMID:35441217|PMID:35495172|PMID:35534704|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:732861 D RGD:9068941 20231005 RGD DNA:mutations: :multiple PMID:17085682|REF_RGD_ID:2289707 8851058 Chek2 checkpoint kinase 2 gene DOID:10534 stomach cancer ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12610780|PMID:12909615|PMID:15239132|PMID:15535844|PMID:16199547|PMID:16982735|PMID:17721994|PMID:18004398|PMID:18725978|PMID:21244692|PMID:21876083|PMID:22114986|PMID:22419737|PMID:23334666|PMID:24506336|PMID:24549055|PMID:24713400|PMID:24728327|PMID:24879340|PMID:25186627|PMID:25318351|PMID:25503501|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27067391|PMID:27708748|PMID:27751358|PMID:28152038|PMID:28492532|PMID:28724667|PMID:28779002|PMID:28783718|PMID:28888541|PMID:28944238|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29356917|PMID:29470806|PMID:29479983|PMID:29520813|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30967556|PMID:31056428|PMID:31214711|PMID:31263054|PMID:31360903|PMID:31447099|PMID:31497750|PMID:31589614|PMID:31650100|PMID:32029870|PMID:32091409|PMID:32295079|PMID:32427313|PMID:32658311|PMID:32761968|PMID:32805687|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32980694|PMID:33471991|PMID:33558524|PMID:33789101|PMID:34299313|PMID:34903604|PMID:35118230|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35626031|PMID:35643632|PMID:36551643|PMID:36988593|PMID:37449874 8851058 Chek2 checkpoint kinase 2 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:17918154|REF_RGD_ID:2289704 8851058 Chek2 checkpoint kinase 2 gene DOID:11054 urinary bladder cancer treatment ISO RGD:621543 D RGD:9068941 20200609 RGD PMID:21396995|REF_RGD_ID:10401655 8851058 Chek2 checkpoint kinase 2 gene DOID:1115 sarcoma ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:15145354|PMID:21876083|PMID:24713400|PMID:25741868|PMID:28492532 8851058 Chek2 checkpoint kinase 2 gene DOID:1324 lung cancer ISO RGD:732861 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:16883537|PMID:18484200|PMID:21244692|PMID:21618645|PMID:23318652|PMID:23806170|PMID:23960188|PMID:24390236|PMID:25629968|PMID:25741868|PMID:25884806|PMID:26467025|PMID:26787654|PMID:27442652|PMID:27621404|PMID:27751358|PMID:28492532|PMID:28580595|PMID:28961279|PMID:29020732|PMID:29338689|PMID:29470806|PMID:29506128|PMID:29667044|PMID:30287823|PMID:30851065|PMID:31472684|PMID:31742824|PMID:32091409|PMID:32521533|PMID:32566746 8851058 Chek2 checkpoint kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to | ClinVar Annotator: match by term: Neoplasms PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034 8851058 Chek2 checkpoint kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to | ClinVar Annotator: match by term: Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29902706|PMID:29958926|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31843900|PMID:31844177|PMID:32243226|PMID:32255556|PMID:32295079|PMID:33670479|PMID:33986034 8851058 Chek2 checkpoint kinase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732861 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to | ClinVar Annotator: match by term: Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22058216|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25085752|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29902706|PMID:29958926|PMID:29978187|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31409080|PMID:31447099|PMID:31843900|PMID:31844177|PMID:32243226|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32885271|PMID:33077847|PMID:33670479|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182 8851058 Chek2 checkpoint kinase 2 gene DOID:1520 colon carcinoma ISO RGD:732861 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:14612911|PMID:15087378|PMID:17721994|PMID:18571837|PMID:21244692|PMID:23960188|PMID:24390236|PMID:25085752|PMID:25186627|PMID:25231023|PMID:25741868|PMID:26467025|PMID:26787654|PMID:27153395|PMID:27443514|PMID:27595995|PMID:27779110|PMID:27878467|PMID:28492532|PMID:28779002|PMID:28828701|PMID:29335925|PMID:29484706|PMID:29522266|PMID:29875428|PMID:29987844|PMID:30303537|PMID:30322893|PMID:30613976|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31214250|PMID:31220302|PMID:31409080|PMID:31512090|PMID:31811167|PMID:33134171|PMID:33471991|PMID:33558524|PMID:34903604|PMID:35886069|PMID:36653541 8851058 Chek2 checkpoint kinase 2 gene DOID:1588 thrombocytopenia ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27711073|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:36222830|PMID:37055167|PMID:37149759 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31159747 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32906215|PMID:32923877|PMID:32957588|PMID:3313277|PMID:33134171|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27854218|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30976395|PMID:31050813|PMID:31090900 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32830346|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34903604|PMID:35264596|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34072659|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35264596|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25326637|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34072659|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36988593|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:34991090|PMID:35127508|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35626031|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36360192|PMID:36551643|PMID:36988593|PMID:37449874|PMID:37490054|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17922014|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25417114|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34903604|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35127508|PMID:35128723|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35314380|PMID:35402282|PMID:35441217|PMID:35475445|PMID:35495172|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36360192|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37628581|PMID:37725924|PMID:37842866|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20231005 RGD DNA:deletion: ;1100delC PMID:11967536|REF_RGD_ID:1599601 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20231005 RGD DNA:loss of heterozygosity PMID:17145815|REF_RGD_ID:2289706 8851058 Chek2 checkpoint kinase 2 gene DOID:1612 breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20231005 RGD DNA:missense mutations:p.I157T and p.S428F PMID:18085035|REF_RGD_ID:2289703 8851058 Chek2 checkpoint kinase 2 gene DOID:1614 male breast cancer no_association ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:deletion: :1100delC PMID:17661168|REF_RGD_ID:2289705 8851058 Chek2 checkpoint kinase 2 gene DOID:1614 male breast cancer susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:deletion: :1100delC PMID:11967536|REF_RGD_ID:1599601 8851058 Chek2 checkpoint kinase 2 gene DOID:1909 melanoma ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Melanoma PMID:12533788|PMID:15087378|PMID:15095295|PMID:15492928|PMID:15810020|PMID:17085682|PMID:19030985|PMID:20417869|PMID:21876083|PMID:22058216|PMID:23296741|PMID:24713400|PMID:25085752|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27616075|PMID:27751358|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29902706|PMID:29958926|PMID:30322717|PMID:30426508|PMID:30676620|PMID:30927251|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31447099|PMID:31843900|PMID:32295079|PMID:32338768|PMID:32546565|PMID:32875559|PMID:32885271|PMID:33030641|PMID:33077847|PMID:33726816|PMID:33804961|PMID:34308366|PMID:34570182|PMID:34992046 8851058 Chek2 checkpoint kinase 2 gene DOID:1967 leiomyosarcoma ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leiomyosarcoma PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27711073|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:36222830|PMID:37055167|PMID:37149759 8851058 Chek2 checkpoint kinase 2 gene DOID:2154 nephroblastoma ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:10617473|PMID:11719428|PMID:11967536|PMID:15492928|PMID:18759107|PMID:19030985|PMID:20722467|PMID:21244692|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22520019|PMID:22691310|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23409019|PMID:23415889|PMID:24723567|PMID:26822237 8851058 Chek2 checkpoint kinase 2 gene DOID:219 colon cancer ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:15095295|PMID:21244692|PMID:22114986|PMID:22419737|PMID:22862163|PMID:23552953|PMID:24595525|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26787654|PMID:26845104|PMID:27443514|PMID:27621404|PMID:27751358|PMID:27779110|PMID:28008555|PMID:28135145|PMID:28492532|PMID:28495237|PMID:28944238|PMID:29368341|PMID:29520813|PMID:29922827|PMID:29945567|PMID:30128536|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31341520|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31948886|PMID:32227564|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32881420|PMID:32885271|PMID:32906215|PMID:33030641|PMID:33193653|PMID:33471991|PMID:34072659|PMID:34271781|PMID:34637943|PMID:35128723|PMID:35245693|PMID:35643632|PMID:36136322|PMID:36315097|PMID:37449874|PMID:37628581 8851058 Chek2 checkpoint kinase 2 gene DOID:2394 ovarian cancer ISO RGD:732861 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:17145815|PMID:21153778|PMID:21681852|PMID:21876083|PMID:24713400|PMID:24728327|PMID:25741868|PMID:26023681|PMID:26467025|PMID:27039729|PMID:27510020|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29356917|PMID:30851065|PMID:31398194|PMID:31589614|PMID:32658311|PMID:32885271|PMID:32923906|PMID:33471991|PMID:34371384|PMID:34903604|PMID:35264596|PMID:35886069|PMID:35896598 8851058 Chek2 checkpoint kinase 2 gene DOID:2871 endometrial carcinoma ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12533788|PMID:15087378|PMID:15095295|PMID:15492928|PMID:15810020|PMID:17085682|PMID:17576681|PMID:19030985|PMID:20417869|PMID:21876083|PMID:22058216|PMID:22114986|PMID:23296741|PMID:24713400|PMID:25085752|PMID:25186627|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26084796|PMID:26094658|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27616075|PMID:27751358|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29785007|PMID:29902706|PMID:29958926|PMID:30264118|PMID:30303537|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30676620|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31422574|PMID:31447099|PMID:31843900|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32546565|PMID:32875559|PMID:32885271|PMID:32906215|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33726816|PMID:33804961|PMID:34308366|PMID:34570182|PMID:34903604|PMID:34992046|PMID:35155181|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:19338683|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32906215 8851058 Chek2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26506619|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32906215|PMID:33471991 8851058 Chek2 checkpoint kinase 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26506619|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27711073|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29758562|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30676620|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31447099|PMID:31589614|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32885271|PMID:32906215|PMID:32923877|PMID:33471991|PMID:33789101|PMID:34903604|PMID:35264596|PMID:35314380|PMID:35626031|PMID:35643632|PMID:36222830|PMID:36551643|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874 8851058 Chek2 checkpoint kinase 2 gene DOID:3070 high grade glioma ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27711073|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:36222830|PMID:37055167|PMID:37149759 8851058 Chek2 checkpoint kinase 2 gene DOID:3168 squamous cell neoplasm ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 8851058 Chek2 checkpoint kinase 2 gene DOID:3308 embryonal carcinoma ISO RGD:732861 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:11593395|REF_RGD_ID:2298484 8851058 Chek2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:7240710 20231004 OMIM 8851058 Chek2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26580448|PMID:26641009|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886 8851058 Chek2 checkpoint kinase 2 gene DOID:3347 osteosarcoma ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:31980526|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33030641|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33803639|PMID:33804961|PMID:33986034|PMID:34008015|PMID:34130653|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34622392|PMID:34630562|PMID:34903604|PMID:34992046|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35495172|PMID:35534704|PMID:35643632|PMID:35886069|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054 8851058 Chek2 checkpoint kinase 2 gene DOID:3376 bone osteosarcoma ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26580448|PMID:26641009|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900 8851058 Chek2 checkpoint kinase 2 gene DOID:3376 bone osteosarcoma ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:31844177|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33030641|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33803639|PMID:33804961|PMID:33986034|PMID:34008015|PMID:34130653|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34622392|PMID:34630562|PMID:34903604|PMID:34992046|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35495172|PMID:35534704|PMID:35643632|PMID:35886069|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054 8851058 Chek2 checkpoint kinase 2 gene DOID:3459 breast carcinoma ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15810020|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:17576681|PMID:18172190|PMID:18759107|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19805189|PMID:20417869|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22862163|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24595525|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26023681|PMID:26084796|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27039729|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27443514|PMID:27510020|PMID:27616075|PMID:27621404|PMID:27711073|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29758562|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:30128536|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30580288|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30858171|PMID:30927251|PMID:30980208|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31843900|PMID:31948886|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32531112|PMID:32546565|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:33030641|PMID:33077847|PMID:33193653|PMID:33471991|PMID:33558524|PMID:33726816|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34433815|PMID:34570182|PMID:34637943|PMID:34903604|PMID:34992046|PMID:35127508|PMID:35128723|PMID:35220195|PMID:35245693|PMID:35350808|PMID:35418818|PMID:35643632|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36468172|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37628581|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:3948 adrenocortical carcinoma ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31409080|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034|PMID:34903604|PMID:36222830|PMID:37490054 8851058 Chek2 checkpoint kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:16199547|PMID:21876083|PMID:24713400|PMID:28492532 8851058 Chek2 checkpoint kinase 2 gene DOID:4440 seminoma ISO RGD:732861 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:11593395|REF_RGD_ID:2298484 8851058 Chek2 checkpoint kinase 2 gene DOID:4905 pancreatic carcinoma ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16794575|PMID:16880452|PMID:17085682|PMID:17576681|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27711073|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29785007|PMID:29909568|PMID:30128536|PMID:30264118|PMID:30303537|PMID:30322717|PMID:30851065|PMID:31050813|PMID:31118792|PMID:31300551|PMID:31422574|PMID:31843900|PMID:31993860|PMID:32068069|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32658311|PMID:32805687|PMID:32860008|PMID:32906215|PMID:33050356|PMID:33471991|PMID:34606182|PMID:35155181|PMID:36222830|PMID:36521553|PMID:37055167|PMID:37149759|PMID:37239058|PMID:37449874|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:20713355|PMID:22114986|PMID:25503501|PMID:25619829|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27553368|PMID:27751358|PMID:28492532|PMID:29522266|PMID:29761796|PMID:29922827|PMID:30441849|PMID:30613976|PMID:30851065|PMID:31398194|PMID:32090079|PMID:32183364|PMID:32957588|PMID:33471991|PMID:33919281|PMID:33925588|PMID:34072659|PMID:34903604|PMID:35220195|PMID:35643632|PMID:36360192 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30851065|PMID:30975761|PMID:30976395|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:35155181|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:35264596|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34404389|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:35402282|PMID:36136322|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30927251|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:36136322|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36136322|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36988593|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32975687|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35467778|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36988593|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32975687|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35467778|PMID:35626031|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36551643|PMID:36988593|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32975687|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35467778|PMID:35626031|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36360192|PMID:36551643|PMID:36988593|PMID:37449874|PMID:37490054|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32975687|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35467778|PMID:35626031|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36360192|PMID:36551643|PMID:36988593|PMID:37449874|PMID:37490054|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32975687|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35467778|PMID:35626031|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36360192|PMID:36551643|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34637943|PMID:34903604|PMID:34991090|PMID:34992046|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35626031|PMID:35643632|PMID:35886069|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36360192|PMID:36551643|PMID:36653541|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827 8851058 Chek2 checkpoint kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34732190|PMID:34903604|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35534218|PMID:35626031|PMID:35643632|PMID:35886069|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36315097|PMID:36360192|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36988593|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37842866|PMID:9536098 8851058 Chek2 checkpoint kinase 2 gene DOID:6000 congestive heart failure ISO RGD:732861 D RGD:9068941 20200609 RGD protein:increased phosphorylation:heart myocardium PMID:12702777|REF_RGD_ID:2289708 8851058 Chek2 checkpoint kinase 2 gene DOID:630 genetic disease ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12052256|PMID:16199547|PMID:21876083|PMID:22419737|PMID:24713400|PMID:25741868|PMID:26206375|PMID:26467025|PMID:28492532|PMID:28779002 8851058 Chek2 checkpoint kinase 2 gene DOID:769 neuroblastoma ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334666 8851058 Chek2 checkpoint kinase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8851058 Chek2 checkpoint kinase 2 gene DOID:9000357 Male Breast Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11967536 8851058 Chek2 checkpoint kinase 2 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:12533788|PMID:16835864|PMID:16941491|PMID:18058223|PMID:18996005|PMID:19782031|PMID:22419737|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28125078|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29520813|PMID:29522266|PMID:30287823|PMID:30851065|PMID:31050813|PMID:32906206|PMID:32923877|PMID:32980694|PMID:33471991|PMID:34711244|PMID:36468172 8851058 Chek2 checkpoint kinase 2 gene DOID:9000918 Disease Progression ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8851058 Chek2 checkpoint kinase 2 gene DOID:9002265 Kidney Neoplasms onset ISO RGD:621543 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney outer medulla outer stripe (rat) PMID:22411272|REF_RGD_ID:10401643 8851058 Chek2 checkpoint kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12533788 8851058 Chek2 checkpoint kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16883537|PMID:17085682|PMID:18172190|PMID:18484200|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21618645|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23318652|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24390236|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25884806|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27442652|PMID:27621404|PMID:27711073|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28961279|PMID:29020732|PMID:29146883|PMID:29338689|PMID:29351919|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29522266|PMID:29667044|PMID:29909568|PMID:30287823|PMID:30851065|PMID:31300551|PMID:31472684|PMID:31742824|PMID:31993860|PMID:32091409|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32805687|PMID:36222830|PMID:37055167|PMID:37149759 8851058 Chek2 checkpoint kinase 2 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:17145815|REF_RGD_ID:2289706 8851058 Chek2 checkpoint kinase 2 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I157T PMID:16828850|REF_RGD_ID:2298482 8851058 Chek2 checkpoint kinase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:16794575|PMID:21244692|PMID:22419737|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26822949|PMID:27751358|PMID:28486781|PMID:28492532|PMID:28580595|PMID:30128536|PMID:30303537|PMID:30322717|PMID:30851065|PMID:31050813|PMID:31118792|PMID:32068069|PMID:32658311|PMID:32860008|PMID:33050356|PMID:33471991|PMID:34606182|PMID:36521553|PMID:37239058|PMID:37449874 8851058 Chek2 checkpoint kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732861 D RGD:9068941 20200609 RGD PMID:18299147|REF_RGD_ID:2296067 8851058 Chek2 checkpoint kinase 2 gene DOID:9004265 Endometrioid Carcinomas susceptibility ISO RGD:732861 D RGD:9068941 20200609 RGD PMID:17164260|REF_RGD_ID:2293868 8851058 Chek2 checkpoint kinase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 8851058 Chek2 checkpoint kinase 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:21876083|PMID:24713400|PMID:25741868|PMID:26467025|PMID:27083775|PMID:28492532|PMID:30128536|PMID:31844177|PMID:32805687|PMID:33471991 8851058 Chek2 checkpoint kinase 2 gene DOID:9005804 Vulvar Neoplasms ISO RGD:732861 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:252A>G PMID:11875739|REF_RGD_ID:2298483 8851058 Chek2 checkpoint kinase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:621543 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (rat) PMID:25129990|REF_RGD_ID:10400905 8851058 Chek2 checkpoint kinase 2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Triple-negative breast cancer PMID:26328243|PMID:28492532 8851058 Chek2 checkpoint kinase 2 gene DOID:9006911 Congenital Heart Defects, Multiple Types, 3 ISO RGD:732861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 3 PMID:21876083|PMID:24713400|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27751358|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29356917|PMID:29922827|PMID:30287823|PMID:30303537|PMID:32658311|PMID:33558524|PMID:34299313|PMID:36988593 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:3313277|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33986034|PMID:34008015|PMID:34371384|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34903604|PMID:35155181|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34903604|PMID:35155181|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34771502|PMID:34884835|PMID:34903604|PMID:34991090|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35467778|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36315513|PMID:36988593|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34282249|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34771502|PMID:34884835|PMID:34903604|PMID:34991090|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35441217|PMID:35467778|PMID:35475445|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36136322|PMID:36139606|PMID:36243179 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:36288950|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36551643|PMID:36988593|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:35980532|PMID:36003761|PMID:36011273|PMID:36136322|PMID:36139606|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36551643|PMID:36845387|PMID:36988593|PMID:37449874|PMID:37490054|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14681223|PMID:14687034|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17698850|PMID:17721994|PMID:17918214|PMID:17922014|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:2797856|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29731985|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30687805|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33594163|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34282249|PMID:34299313 8851058 Chek2 checkpoint kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732861 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34308104|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34630562|PMID:34637943|PMID:34711244|PMID:34732190|PMID:34771502|PMID:34884835|PMID:34903604|PMID:34907112|PMID:34926252|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35475445|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35896598|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36136322|PMID:36139606|PMID:36222830|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36468172|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37306523|PMID:37373225|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37507074|PMID:37628581|PMID:37725924|PMID:37842866|PMID:914197|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy PMID:28492532 8851058 Chek2 checkpoint kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12690581 8851058 Chek2 checkpoint kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16880452|PMID:16883537|PMID:16914568|PMID:17085682|PMID:17721994|PMID:18085035|PMID:18172190|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21618645|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22862163|PMID:22994785|PMID:23109706|PMID:23318652|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24390236|PMID:24506336|PMID:24595525|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25884806|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27621404|PMID:27711073|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27806230|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29667044|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31472684|PMID:31742824|PMID:31784482|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32881420|PMID:32885271|PMID:32906215|PMID:33030641|PMID:33193653|PMID:33471974|PMID:33471991|PMID:34072659|PMID:34271781|PMID:34622392|PMID:34637943|PMID:35128723|PMID:35245693|PMID:35264596|PMID:35643632|PMID:36136322|PMID:36222830|PMID:36315097|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054|PMID:37628581 8851058 Chek2 checkpoint kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11733767|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15239132|PMID:15279791|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16897426|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17698850|PMID:17721994|PMID:17918214|PMID:17922014|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19763152|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20307669|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22406018|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25640679|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:2797856|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075 8851058 Chek2 checkpoint kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29731985|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30687805|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33260537|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781 8851058 Chek2 checkpoint kinase 2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732861 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:34282249|PMID:34299313|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34630562|PMID:34637943|PMID:34711244|PMID:34732190|PMID:34771502|PMID:34884835|PMID:34903604|PMID:34907112|PMID:34926252|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35475445|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35896598|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36136322|PMID:36139606|PMID:36222830|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36468172|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37306523|PMID:37373225|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37507074|PMID:37628581|PMID:37725924|PMID:37842866|PMID:914197|PMID:9536098|PMID:9836640 8851058 Chek2 checkpoint kinase 2 gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hematochezia PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24723567|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27711073|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:36222830|PMID:37055167|PMID:37149759 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:33670479|PMID:33986034 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30976395|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:33670479|PMID:33986034 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034|PMID:35264596 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034|PMID:35264596 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:35643632|PMID:36136322 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:35643632|PMID:36136322|PMID:36222830|PMID:37449874|PMID:37490054 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26641009|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31614935|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32875559|PMID:32881420 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:32885271|PMID:32906215|PMID:32957588|PMID:33030641|PMID:33077847|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33804961|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34637943|PMID:34903604|PMID:34992046|PMID:35128723|PMID:35245693|PMID:35264596|PMID:35643632|PMID:36136322|PMID:36222830|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26641009|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31614935|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer ISO RGD:732861 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:32805687|PMID:32830346|PMID:32832836|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33030641|PMID:33077847|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33803639|PMID:33804961|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34622392|PMID:34630562|PMID:34637943|PMID:34903604|PMID:34992046|PMID:35128723|PMID:35245693|PMID:35264596|PMID:35643632|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36468172|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054|PMID:37628581 8851058 Chek2 checkpoint kinase 2 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732861 D RGD:9068941 20231005 RGD DNA:loss of heterozygosity PMID:17145815|REF_RGD_ID:2289706 8851058 Chek2 checkpoint kinase 2 gene DOID:9460 uterine corpus cancer ISO RGD:732861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:21876083|PMID:24713400|PMID:28492532 8851084 Traf3ip3 TRAF3 interacting protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1604284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8851084 Traf3ip3 TRAF3 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1604284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851084 Traf3ip3 TRAF3 interacting protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8851104 Cnr2 cannabinoid receptor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:732246 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:30102254 8851104 Cnr2 cannabinoid receptor 2 gene DOID:11446 sciatic neuropathy treatment ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:19345493|REF_RGD_ID:2316195 8851104 Cnr2 cannabinoid receptor 2 gene DOID:12858 Huntington's disease ISO RGD:1553231 D RGD:9068941 20200609 RGD PMID:19115380|REF_RGD_ID:2316196 8851104 Cnr2 cannabinoid receptor 2 gene DOID:12858 Huntington's disease ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:19115380|REF_RGD_ID:2316196 8851104 Cnr2 cannabinoid receptor 2 gene DOID:13250 diarrhea ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:27611972 8851104 Cnr2 cannabinoid receptor 2 gene DOID:13548 secondary Parkinson disease ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27317300 8851104 Cnr2 cannabinoid receptor 2 gene DOID:13580 cholestasis ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:26884397 8851104 Cnr2 cannabinoid receptor 2 gene DOID:1596 depressive disorder ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18286196 8851104 Cnr2 cannabinoid receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818650 8851104 Cnr2 cannabinoid receptor 2 gene DOID:1936 atherosclerosis ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15815632 8851104 Cnr2 cannabinoid receptor 2 gene DOID:2055 post-traumatic stress disorder ISO RGD:732246 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34262461 8851104 Cnr2 cannabinoid receptor 2 gene DOID:2914 immune system disease ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16924491 8851104 Cnr2 cannabinoid receptor 2 gene DOID:418 systemic scleroderma ISO RGD:732246 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 8851104 Cnr2 cannabinoid receptor 2 gene DOID:4195 hyperglycemia ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:32365865 8851104 Cnr2 cannabinoid receptor 2 gene DOID:4989 pancreatitis ISO RGD:619713 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas, acinar cell PMID:19070664|REF_RGD_ID:2316197 8851104 Cnr2 cannabinoid receptor 2 gene DOID:4989 pancreatitis ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17484889 8851104 Cnr2 cannabinoid receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15765409 8851104 Cnr2 cannabinoid receptor 2 gene DOID:630 genetic disease ISO RGD:732246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851104 Cnr2 cannabinoid receptor 2 gene DOID:848 arthritis ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:18075852|REF_RGD_ID:2316223 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:18930143|REF_RGD_ID:2316199 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9000641 Pain ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:19409856|REF_RGD_ID:2316193 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9000920 Anterior Cruciate Ligament Injuries ISO RGD:732246 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34537380 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9001981 Weight Loss ISO RGD:732246 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27611972|PMID:30102254 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17572696|PMID:18664590 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9003805 Catalepsy ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:31877572 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9006205 Animal Disease Models ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27317300 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:732246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732246 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:29805589 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619713 D RGD:9068941 20200609 RGD PMID:17950273|REF_RGD_ID:2316224 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818634 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9009039 Hyperemia ISO RGD:732246 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:27611972 8851104 Cnr2 cannabinoid receptor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15039279 8851127 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8851127 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:0080279 Joubert syndrome 33 ISO RGD:1312894 D RGD:7240710 20190315 OMIM 8851127 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:0080279 Joubert syndrome 33 ISO RGD:1312894 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome 33 PMID:25741868|PMID:26167768|PMID:28492532|PMID:29695797|PMID:30858804|PMID:31474318 8851127 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1312894 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868|PMID:26167768|PMID:28492532 8851127 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1312894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868|PMID:26167768|PMID:30858804|PMID:31474318 8851127 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:630 genetic disease ISO RGD:1312894 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8851127 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:9000983 Encephalocele ISO RGD:1312894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cephalocele PMID:25741868|PMID:26167768|PMID:30858804|PMID:31474318 8851127 Pibf1 progesterone immunomodulatory binding factor 1 gene DOID:9004410 Threatened Abortion ISO RGD:1312894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15760377 8851158 Gpat3 glycerol-3-phosphate acyltransferase 3 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1606210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8851158 Gpat3 glycerol-3-phosphate acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1606210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851175 Gfra4 GDNF family receptor alpha 4 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343287 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8851175 Gfra4 GDNF family receptor alpha 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1343287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8851175 Gfra4 GDNF family receptor alpha 4 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8851175 Gfra4 GDNF family receptor alpha 4 gene DOID:630 genetic disease ISO RGD:1343287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851175 Gfra4 GDNF family receptor alpha 4 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1343287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8851192 Exoc2 exocyst complex component 2 gene DOID:10283 prostate cancer ISO RGD:1348584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8851192 Exoc2 exocyst complex component 2 gene DOID:630 genetic disease ISO RGD:1348584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851192 Exoc2 exocyst complex component 2 gene DOID:9007202 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA ISO RGD:1348584 D RGD:7240710 20210623 OMIM 8851192 Exoc2 exocyst complex component 2 gene DOID:9007202 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA ISO RGD:1348584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia PMID:32639540 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0080690 RASopathy ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1348843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:5419 schizophrenia ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:630 genetic disease ISO RGD:1348843 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8851229 Nherf4 NHERF family PDZ scaffold protein 4 gene DOID:9007661 Dwarfism ISO RGD:1348843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:733162 D RGD:9068941 20220825 MouseDO OMIM:302950 | OMIM:302960 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:0080352 X-linked chondrodysplasia punctata 2 ISO RGD:1345811 D RGD:7240710 20180130 OMIM 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:0080352 X-linked chondrodysplasia punctata 2 ISO RGD:1345811 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant | ClinVar Annotator: match by term: Chondrodysplasia punctata 2, X-linked dominant, atypical PMID:10391218|PMID:10391219|PMID:10710233|PMID:10942423|PMID:11038443|PMID:11493318|PMID:11982764|PMID:12483303|PMID:12503102|PMID:12509714|PMID:1355069|PMID:15368506|PMID:17625999|PMID:17949453|PMID:18414213|PMID:20949533|PMID:22121851|PMID:22229330|PMID:24726177|PMID:24915996|PMID:25741868|PMID:26075358|PMID:28492532|PMID:29851033|PMID:30098249|PMID:7677157 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:0111865 MEND syndrome ISO RGD:1345811 D RGD:7240710 20180130 OMIM 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:0111865 MEND syndrome ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEND syndrome PMID:11038443|PMID:12503101|PMID:12966533|PMID:18414213|PMID:20949533|PMID:23307567|PMID:24459067|PMID:24700572|PMID:25741868|PMID:28492532 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345811 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:12849 autistic disorder ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:2581 chondrodysplasia punctata ISO RGD:1345811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18176751 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:2581 chondrodysplasia punctata ISO RGD:1345811 D RGD:9068941 20200609 RGD CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X PMID:10391218|REF_RGD_ID:734908 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:2581 chondrodysplasia punctata ISO RGD:733162 D RGD:9068941 20200609 RGD PMID:10391218|REF_RGD_ID:734908 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:630 genetic disease ISO RGD:1345811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12509714|PMID:25741868|PMID:28492532 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:65 connective tissue disease ISO RGD:1345811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:10391219|PMID:11038443|PMID:12503102|PMID:12509714|PMID:18414213|PMID:25741868|PMID:28492532 8851291 Ebp EBP cholestenol delta-isomerase gene DOID:9008582 Developmental Disease ISO RGD:1345811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8851300 Clic2 chloride intracellular channel 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1315278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8851300 Clic2 chloride intracellular channel 2 gene DOID:0050476 Barth syndrome ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8851300 Clic2 chloride intracellular channel 2 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8851300 Clic2 chloride intracellular channel 2 gene DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ISO RGD:1315278 D RGD:7240710 20180130 OMIM 8851300 Clic2 chloride intracellular channel 2 gene DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome ISO RGD:1315278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome PMID:21630357|PMID:22814392|PMID:25741868 8851300 Clic2 chloride intracellular channel 2 gene DOID:0111781 Waisman syndrome ISO RGD:1315278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset parkinsonism-intellectual disability syndrome PMID:25434005 8851300 Clic2 chloride intracellular channel 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1315278 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8851300 Clic2 chloride intracellular channel 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8851300 Clic2 chloride intracellular channel 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8851300 Clic2 chloride intracellular channel 2 gene DOID:12849 autistic disorder ISO RGD:1315278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8851300 Clic2 chloride intracellular channel 2 gene DOID:13628 favism ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8851300 Clic2 chloride intracellular channel 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1315278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8851300 Clic2 chloride intracellular channel 2 gene DOID:607 paraplegia ISO RGD:1315278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8851300 Clic2 chloride intracellular channel 2 gene DOID:630 genetic disease ISO RGD:1315278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8851300 Clic2 chloride intracellular channel 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8851300 Clic2 chloride intracellular channel 2 gene DOID:9002720 Splenomegaly ISO RGD:1315278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8851316 Faah fatty acid amide hydrolase gene DOID:0060001 withdrawal disorder ISO RGD:737052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18705688|PMID:19002671 8851316 Faah fatty acid amide hydrolase gene DOID:12858 Huntington's disease ISO RGD:737052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20929960 8851316 Faah fatty acid amide hydrolase gene DOID:303 substance-related disorder ISO RGD:737052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polysubstance abuse, susceptibility to PMID:12060782|PMID:15254019|PMID:16972078|PMID:23556448|PMID:25741868 8851316 Faah fatty acid amide hydrolase gene DOID:303 substance-related disorder susceptibility ISO RGD:737052 D RGD:7240710 20190502 OMIM 8851316 Faah fatty acid amide hydrolase gene DOID:630 genetic disease ISO RGD:737052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851316 Faah fatty acid amide hydrolase gene DOID:9004702 Pregnancy Complications ISO RGD:737052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16886060 8851316 Faah fatty acid amide hydrolase gene DOID:9970 obesity ISO RGD:737052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19103437|PMID:20716455 8851316 Faah fatty acid amide hydrolase gene DOID:9970 obesity ISO RGD:737052 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15809662|REF_RGD_ID:1625726 8851316 Faah fatty acid amide hydrolase gene DOID:9974 drug dependence ISO RGD:737052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Drug addiction, susceptibility to PMID:12060782|PMID:15254019|PMID:16972078|PMID:23556448|PMID:25741868 8851335 Dcp1a decapping mRNA 1A gene DOID:630 genetic disease ISO RGD:1350050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851349 Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif 20 gene DOID:1909 melanoma ISO RGD:1317084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21559390 8851349 Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif 20 gene DOID:630 genetic disease ISO RGD:1317084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851349 Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif 20 gene DOID:9296 cleft lip ISO RGD:12133751 D RGD:9068941 20230511 OMIA Cleft lip with or without cleft palate, ADAMTS20-related PMID:13875838|PMID:25798845|PMID:28738009|PMID:28887848|PMID:34838248 8851393 Lrrfip2 LRR binding FLII interacting protein 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1314733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome II PMID:21785361 8851393 Lrrfip2 LRR binding FLII interacting protein 2 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:1314733 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:21785361|PMID:25741868 8851393 Lrrfip2 LRR binding FLII interacting protein 2 gene DOID:3883 Lynch syndrome ISO RGD:1314733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:10422993|PMID:28492532 8851393 Lrrfip2 LRR binding FLII interacting protein 2 gene DOID:630 genetic disease ISO RGD:1314733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851393 Lrrfip2 LRR binding FLII interacting protein 2 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1314733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8851458 Atp1b4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0050437 Danon disease ISO RGD:736275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 8851458 Atp1b4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8851458 Atp1b4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:736275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8851458 Atp1b4 ATPase Na+/K+ transporting family member beta 4 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:736275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8851458 Atp1b4 ATPase Na+/K+ transporting family member beta 4 gene DOID:12849 autistic disorder ISO RGD:736275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8851458 Atp1b4 ATPase Na+/K+ transporting family member beta 4 gene DOID:630 genetic disease ISO RGD:736275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851476 Hspa4l heat shock protein family A (Hsp70) member 4 like gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1350877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 8851476 Hspa4l heat shock protein family A (Hsp70) member 4 like gene DOID:630 genetic disease ISO RGD:1350877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851512 Ier3ip1 immediate early response 3 interacting protein 1 gene DOID:0060356 Vici syndrome ISO RGD:1352833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8851512 Ier3ip1 immediate early response 3 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1352833 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8851512 Ier3ip1 immediate early response 3 interacting protein 1 gene DOID:1826 epilepsy ISO RGD:1352833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:29358611 8851512 Ier3ip1 immediate early response 3 interacting protein 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1352833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 8851512 Ier3ip1 immediate early response 3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1352833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8851512 Ier3ip1 immediate early response 3 interacting protein 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1352833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:16972080|PMID:17576681|PMID:21835305|PMID:22991235|PMID:23771172|PMID:24138066|PMID:25741868|PMID:28492532|PMID:28711742|PMID:31264968|PMID:9536098 8851512 Ier3ip1 immediate early response 3 interacting protein 1 gene DOID:9004175 Microcephaly, Epilepsy, and Diabetes Syndrome 1 ISO RGD:1352833 D RGD:7240710 20210421 OMIM 8851512 Ier3ip1 immediate early response 3 interacting protein 1 gene DOID:9004175 Microcephaly, Epilepsy, and Diabetes Syndrome 1 ISO RGD:1352833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1 PMID:16972080|PMID:21835305|PMID:22991235|PMID:23771172|PMID:24138066|PMID:25741868|PMID:28492532|PMID:28711742 8851530 Camk1d calcium/calmodulin dependent protein kinase ID gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1603628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8851530 Camk1d calcium/calmodulin dependent protein kinase ID gene DOID:1070 primary open angle glaucoma ISO RGD:1603628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 8851530 Camk1d calcium/calmodulin dependent protein kinase ID gene DOID:630 genetic disease ISO RGD:1603628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851554 Copz2 COPI coat complex subunit zeta 2 gene DOID:630 genetic disease ISO RGD:1315851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851567 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1603338 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8851567 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:0110610 primary ciliary dyskinesia 34 ISO RGD:1603338 D RGD:7240710 20190315 OMIM 8851567 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:0110610 primary ciliary dyskinesia 34 ISO RGD:1603338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 34 PMID:25741868|PMID:27486783|PMID:28492532 8851567 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:1059 intellectual disability ISO RGD:1603338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8851567 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:630 genetic disease ISO RGD:1603338 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8851567 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:9007073 Cough ISO RGD:1603338 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28492532 8851567 Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603338 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 8851579 Hes2 hes family bHLH transcription factor 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736308 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8851579 Hes2 hes family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:736308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851579 Hes2 hes family bHLH transcription factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8851594 Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8851594 Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1319461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8851594 Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:630 genetic disease ISO RGD:1319461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851594 Uap1 UDP-N-acetylglucosamine pyrophosphorylase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8851620 Kank4 KN motif and ankyrin repeat domains 4 gene DOID:1059 intellectual disability ISO RGD:1603552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8851620 Kank4 KN motif and ankyrin repeat domains 4 gene DOID:1184 nephrotic syndrome ISO RGD:1603552 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25961457|PMID:28492532|PMID:29127259 8851620 Kank4 KN motif and ankyrin repeat domains 4 gene DOID:630 genetic disease ISO RGD:1603552 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8851654 Dok5 docking protein 5 gene DOID:630 genetic disease ISO RGD:1343098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851668 Asb15 ankyrin repeat and SOCS box containing 15 gene DOID:4450 renal cell carcinoma ISO RGD:1346506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8851668 Asb15 ankyrin repeat and SOCS box containing 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8851668 Asb15 ankyrin repeat and SOCS box containing 15 gene DOID:630 genetic disease ISO RGD:1346506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851707 Itk IL2 inducible T cell kinase gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1323169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoproliferative disorder 8851707 Itk IL2 inducible T cell kinase gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1323169 D RGD:7240710 20180130 OMIM 8851707 Itk IL2 inducible T cell kinase gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1323169 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16199547|PMID:16860760|PMID:17412921|PMID:17576681|PMID:19425169|PMID:19535334|PMID:19701889|PMID:19717557|PMID:2018|PMID:21109689|PMID:22289921|PMID:25339095|PMID:25741868|PMID:26056787|PMID:27454071|PMID:28492532|PMID:31388699|PMID:32150605|PMID:32628964|PMID:32888943|PMID:34170459|PMID:8985255|PMID:9536098 8851707 Itk IL2 inducible T cell kinase gene DOID:12306 vitiligo ISO RGD:1323169 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Vitiligo-associated multiple autoimmune disease susceptibility 1 PMID:28492532|PMID:32628964|PMID:32888943 8851707 Itk IL2 inducible T cell kinase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1323169 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:17576681|PMID:22289921|PMID:25741868|PMID:28492532|PMID:9536098 8851707 Itk IL2 inducible T cell kinase gene DOID:630 genetic disease ISO RGD:1323169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8851735 Rasal1 RAS protein activator like 1 gene DOID:557 kidney disease ISO RGD:1323476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665422 8851735 Rasal1 RAS protein activator like 1 gene DOID:630 genetic disease ISO RGD:1323476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851735 Rasal1 RAS protein activator like 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323476 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary cancer PMID:25741868 8851772 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8851772 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:0111555 Alkuraya-Kucinskas syndrome ISO RGD:1344341 D RGD:7240710 20190315 OMIM 8851772 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:0111555 Alkuraya-Kucinskas syndrome ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkuraya-Kucinskas syndrome PMID:25558065|PMID:25741868|PMID:29290337 8851772 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:11836 clubfoot ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868|PMID:29290337|PMID:31680349 8851772 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:14766 renal agenesis ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:29290337|PMID:31680349 8851772 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25558065 8851772 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:630 genetic disease ISO RGD:1344341 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8851772 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1344341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8851772 Bltp1 bridge-like lipid transfer protein family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8851871 Mroh5 maestro heat like repeat family member 5 gene DOID:630 genetic disease ISO RGD:1602032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851907 Nsmaf neutral sphingomyelinase activation associated factor gene DOID:630 genetic disease ISO RGD:1352100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851968 Nt5dc2 5'-nucleotidase domain containing 2 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1601740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8851968 Nt5dc2 5'-nucleotidase domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1601740 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8851968 Nt5dc2 5'-nucleotidase domain containing 2 gene DOID:630 genetic disease ISO RGD:1601740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851991 Psip1 PC4 and SRSF1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1350264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8851991 Psip1 PC4 and SRSF1 interacting protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1350264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8852013 Galr1 galanin receptor 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:735654 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8852013 Galr1 galanin receptor 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:735654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8852013 Galr1 galanin receptor 1 gene DOID:1470 major depressive disorder ISO RGD:735654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 8852013 Galr1 galanin receptor 1 gene DOID:630 genetic disease ISO RGD:735654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852013 Galr1 galanin receptor 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:735654 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8852013 Galr1 galanin receptor 1 gene DOID:8445 intestinal volvulus ISO RGD:735654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8852013 Galr1 galanin receptor 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:735654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8852013 Galr1 galanin receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8852013 Galr1 galanin receptor 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:735654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8852013 Galr1 galanin receptor 1 gene DOID:9970 obesity no_association ISO RGD:735654 D RGD:9068941 20200609 RGD PMID:15930442|REF_RGD_ID:1625748 8852042 Spast spastin gene DOID:0050952 spastic ataxia ISO RGD:1318293 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:16055926|PMID:16240363|PMID:25741868|PMID:28492532|PMID:28572275|PMID:30476002|PMID:34445196 8852042 Spast spastin gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1318293 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 8852042 Spast spastin gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:26467025|PMID:28492532 8852042 Spast spastin gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1318293 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:25741868 8852042 Spast spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:7240710 20180130 OMIM 8852042 Spast spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17560499|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18410514|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19423133|PMID:19438933|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24451228|PMID:24478365|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30476002|PMID:30520996|PMID:30564185|PMID:30780198|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32989326|PMID:33098801|PMID:33624935|PMID:34008892|PMID:9536098|PMID:9695811 8852042 Spast spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598599|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19494379|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23238845|PMID:23252998|PMID:23264559|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24417445|PMID:24451228|PMID:24478365|PMID:24648003|PMID:24690193|PMID:24731568|PMID:24824479|PMID:25045380|PMID:25065914|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27077743|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29907907|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30375765|PMID:30476002|PMID:30489674|PMID:30520996|PMID:30528841|PMID:30564185|PMID:30747022|PMID:30778698|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31692161|PMID:31751864|PMID:31851166|PMID:32092540|PMID:32522921|PMID:32650125|PMID:32655478|PMID:32908740|PMID:32989326|PMID:33098801|PMID:33446253|PMID:33624935|PMID:33638609|PMID:34008892|PMID:34114234|PMID:34507445|PMID:34753439|PMID:35303589|PMID:9536098 8852042 Spast spastin gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1318293 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of PMID:10493830|PMID:10610178|PMID:10699187|PMID:10980739|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11134375|PMID:11309678|PMID:11359470|PMID:11704932|PMID:11809724|PMID:11843700|PMID:11985387|PMID:12023066|PMID:12124993|PMID:12161613|PMID:12163196|PMID:12202986|PMID:12471215|PMID:12552568|PMID:12736085|PMID:12939659|PMID:14732620|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15637712|PMID:15667412|PMID:15716377|PMID:15841487|PMID:16009377|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16684598|PMID:16788734|PMID:16832076|PMID:17035675|PMID:17098887|PMID:17100993|PMID:17345589|PMID:17560499|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598599|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18410514|PMID:18608088|PMID:18613979|PMID:18664244|PMID:18701882|PMID:18975132|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19494379|PMID:19763152|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20307669|PMID:20430936|PMID:20491894|PMID:20550563|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20843780|PMID:20932283|PMID:21546041|PMID:21659953|PMID:21834905|PMID:21888932|PMID:21896784|PMID:22203332|PMID:22406018|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23238845|PMID:23252998|PMID:23264559|PMID:23279441|PMID:23400676|PMID:23833562|PMID:24033003|PMID:24033266|PMID:24215330|PMID:24381312|PMID:24417445|PMID:24451228|PMID:24478365|PMID:24648003|PMID:24690193|PMID:24731568|PMID:24824479|PMID:2504538|PMID:25045380|PMID:25065914|PMID:25131622|PMID:25326635|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25640679|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26086985|PMID:26094131|PMID:26165777|PMID:26208798|PMID:26297558|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27077743|PMID:27084228|PMID:27108959|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27942873|PMID:27957547|PMID:28160950|PMID:28492532|PMID:28495799|PMID:28572275|PMID:29112992|PMID:29246610|PMID:29389947|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29907907|PMID:29908077|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30375765|PMID:30476002|PMID:30489674|PMID:30520996|PMID:30528841|PMID:30564185|PMID:30747022|PMID:30778698|PMID:31134136|PMID:31157359|PMID:31227335|PMID:31407473|PMID:31594988|PMID:31630374|PMID:31692161|PMID:31751864|PMID:31851166|PMID:32092540|PMID:32522921|PMID:32650125|PMID:32655478|PMID:32908740|PMID:32989326|PMID:33098801|PMID:33179235|PMID:33446253|PMID:33480217|PMID:33624935|PMID:33638609|PMID:33770234|PMID:34008892|PMID:34114234|PMID:34353391|PMID:34445196|PMID:34507445|PMID:34531397|PMID:34715294|PMID:34753439|PMID:34983064|PMID:35020098|PMID:35303589|PMID:35896380|PMID:38272032|PMID:9536098|PMID:9695811 8852042 Spast spastin gene DOID:1826 epilepsy ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:16832076|PMID:20932283|PMID:25741868|PMID:26467025|PMID:28492532 8852042 Spast spastin gene DOID:1969 cerebral palsy ISO RGD:1318293 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:11015453|PMID:11809724|PMID:15248095|PMID:15326248|PMID:16240363|PMID:16832076|PMID:17594340|PMID:17895902|PMID:17916079|PMID:17971434|PMID:18608088|PMID:18613979|PMID:18701882|PMID:18975132|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20562464|PMID:20665701|PMID:20718791|PMID:22817815|PMID:23252998|PMID:24215330|PMID:25326637|PMID:25341883|PMID:25741868|PMID:26467025|PMID:27084228|PMID:27334366|PMID:28492532|PMID:28572275|PMID:29908077|PMID:30476002|PMID:30564185|PMID:31134136|PMID:33770234|PMID:34008892|PMID:34531397|PMID:35896380 8852042 Spast spastin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318293 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:10610178|PMID:10699187|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11309678|PMID:11809724|PMID:11843700|PMID:12124993|PMID:12161613|PMID:12552568|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15716377|PMID:15841487|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23264559|PMID:24033003|PMID:24033266|PMID:24381312|PMID:24451228|PMID:24857849|PMID:25045380|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27229699|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27957547|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29112992|PMID:29246610|PMID:29421991|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30778698|PMID:31157359|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32092540|PMID:33624935|PMID:34008892|PMID:34753439|PMID:9536098 8852042 Spast spastin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610178|PMID:10699187|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11309678|PMID:11809724|PMID:11843700|PMID:12124993|PMID:12161613|PMID:12552568|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15716377|PMID:15841487|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23264559|PMID:23400676|PMID:24033003|PMID:24033266|PMID:24381312|PMID:24451228|PMID:24857849|PMID:25045380|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27229699|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27957547|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29112992|PMID:29246610|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30778698|PMID:31157359|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32092540|PMID:33624935|PMID:34008892|PMID:34753439|PMID:9536098 8852042 Spast spastin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318293 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610178|PMID:10699187|PMID:11015453|PMID:11039577|PMID:11087788|PMID:11309678|PMID:11809724|PMID:11843700|PMID:12124993|PMID:12161613|PMID:12552568|PMID:15095758|PMID:15159500|PMID:15210521|PMID:15248095|PMID:15326248|PMID:15482961|PMID:15716377|PMID:15841487|PMID:16009769|PMID:16055926|PMID:16199547|PMID:16240363|PMID:16476945|PMID:16682546|PMID:16832076|PMID:17576681|PMID:17594340|PMID:17597328|PMID:17598600|PMID:17690846|PMID:17895902|PMID:17916079|PMID:17957230|PMID:17971434|PMID:18202664|PMID:18608088|PMID:18613979|PMID:18701882|PMID:19289482|PMID:19423133|PMID:19438933|PMID:19875132|PMID:20214791|PMID:20301339|PMID:20430936|PMID:20559269|PMID:20562464|PMID:20665701|PMID:20718791|PMID:20932283|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22817815|PMID:22960362|PMID:23252998|PMID:23264559|PMID:23400676|PMID:24033003|PMID:24033266|PMID:24381312|PMID:24451228|PMID:24857849|PMID:25045380|PMID:25326637|PMID:25341883|PMID:25421405|PMID:25454648|PMID:25525159|PMID:25658484|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26671083|PMID:27084228|PMID:27108959|PMID:27229699|PMID:27260292|PMID:27276562|PMID:27334366|PMID:27688599|PMID:27871443|PMID:27957547|PMID:28492532|PMID:28572275|PMID:28832565|PMID:29112992|PMID:29246610|PMID:29421991|PMID:29691679|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30528841|PMID:30564185|PMID:30778698|PMID:31157359|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31751864|PMID:31851166|PMID:32092540|PMID:33624935|PMID:34008892|PMID:34445196|PMID:34753439|PMID:34983064|PMID:9536098 8852042 Spast spastin gene DOID:607 paraplegia ISO RGD:1318293 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16055926|PMID:16199547|PMID:16240363|PMID:17100993|PMID:20718791|PMID:20932283|PMID:23833562|PMID:24824479|PMID:25341883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28572275|PMID:30476002|PMID:32581362|PMID:34445196 8852042 Spast spastin gene DOID:630 genetic disease ISO RGD:1318293 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10610178|PMID:10699187|PMID:11309678|PMID:11809724|PMID:12161613|PMID:12202986|PMID:14732620|PMID:15095758|PMID:15716377|PMID:16009769|PMID:16055926|PMID:16240363|PMID:16682546|PMID:18202664|PMID:18701882|PMID:19875132|PMID:20562464|PMID:20932283|PMID:21834905|PMID:21888932|PMID:22552817|PMID:22960362|PMID:25045380|PMID:25131622|PMID:25741868|PMID:25741869|PMID:26208798|PMID:26467025|PMID:26600529|PMID:27084228|PMID:27260292|PMID:27334366|PMID:27871443|PMID:28492532|PMID:29112992|PMID:29421991|PMID:29761117|PMID:29934652|PMID:29980238|PMID:30006150|PMID:30476002|PMID:30564185|PMID:31227335|PMID:31594988|PMID:31630374|PMID:33084218|PMID:33624935|PMID:34753439 8852042 Spast spastin gene DOID:9002598 Spastic Paraparesis ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:10610178|PMID:11309678|PMID:12161613|PMID:15716377|PMID:16009769|PMID:16055926|PMID:16682546|PMID:17594340|PMID:17957230|PMID:18701882|PMID:19438933|PMID:20562464|PMID:20718791|PMID:25658484|PMID:25741868|PMID:26208798|PMID:27334366|PMID:28492532 8852042 Spast spastin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318293 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8852042 Spast spastin gene DOID:9007428 Muscle Spasticity ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spasticity PMID:10699187|PMID:11809724|PMID:11843700|PMID:15841487|PMID:20214791|PMID:20718791|PMID:20932283|PMID:22960362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29761117|PMID:29934652 8852042 Spast spastin gene DOID:9007892 Tics ISO RGD:1318293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor tics | ClinVar Annotator: match by term: Tics PMID:10493830|PMID:11039577|PMID:16788734|PMID:17100993|PMID:17971434|PMID:25741868|PMID:28492532|PMID:32989326 8852042 Spast spastin gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1318293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:0050336 hypophosphatemia ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898264 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:13580 cholestasis disease_progression ISO RGD:69057 D RGD:9068941 20200609 RGD PMID:29204052|REF_RGD_ID:13782189 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:182 calcinosis ISO RGD:69105 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30963258 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:1826 epilepsy treatment ISO RGD:69057 D RGD:9068941 20200609 RGD PMID:28303499|REF_RGD_ID:13524859 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:2383 neonatal jaundice ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22371261 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:299 adenocarcinoma ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21977915 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:3347 osteosarcoma ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17279585 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:630 genetic disease ISO RGD:69105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21977915 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29425287 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:9005369 Hepatomegaly ISO RGD:69105 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:23607986|PMID:32320717|PMID:36030841 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19797606|PMID:28058446 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:69105 D RGD:9068941 20201225 RGD associated with tuberculosis ;DNA:SNP,haplotypes:promoter: (rs3814055) (human) PMID:31490979|REF_RGD_ID:40902984 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:9007456 Female Infertility ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:9206 Barrett's esophagus ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21977915 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:9351 diabetes mellitus ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:9452 steatotic liver disease ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25182422 8852080 Nr1i2 nuclear receptor subfamily 1 group I member 2 gene DOID:9970 obesity ISO RGD:69105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 8852104 Hvcn1 hydrogen voltage gated channel 1 gene DOID:0080600 COVID-19 ISO RGD:1603943 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8852104 Hvcn1 hydrogen voltage gated channel 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:1310788 D RGD:9068941 20200609 RGD PMID:31250553|REF_RGD_ID:14985213 8852104 Hvcn1 hydrogen voltage gated channel 1 gene DOID:630 genetic disease ISO RGD:1603943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852135 Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:0111947 immunodeficiency 21 ISO RGD:1343992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 8852135 Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:630 genetic disease ISO RGD:1343992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852135 Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:2322343|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:29146883|PMID:29724903|PMID:31710708 8852135 Dnajb8 DnaJ heat shock protein family (Hsp40) member B8 gene DOID:9270 alkaptonuria ISO RGD:1343992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8852141 Slc16a10 solute carrier family 16 member 10 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731538 D RGD:9068941 20220224 RGD protein:increased expression:esophagus PMID:33609949|REF_RGD_ID:151361149 8852141 Slc16a10 solute carrier family 16 member 10 gene DOID:630 genetic disease ISO RGD:731538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852156 Gxylt2 glucoside xylosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1625085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852177 Mat2a methionine adenosyltransferase 2A gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:619985 D RGD:9068941 20240210 RGD mRNA:decreased expression:brain (rat) PMID:26180184|REF_RGD_ID:11074449 8852177 Mat2a methionine adenosyltransferase 2A gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:737506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8852177 Mat2a methionine adenosyltransferase 2A gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:737506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT 8852177 Mat2a methionine adenosyltransferase 2A gene DOID:1324 lung cancer treatment ISO RGD:737506 D RGD:9068941 20220915 RGD human cells in mouse model PMID:34258296|REF_RGD_ID:153350142 8852177 Mat2a methionine adenosyltransferase 2A gene DOID:14004 thoracic aortic aneurysm ISO RGD:737506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:28166811|PMID:28492532|PMID:9536098 8852177 Mat2a methionine adenosyltransferase 2A gene DOID:14004 thoracic aortic aneurysm ISO RGD:737506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:28492532|PMID:9536098 8852177 Mat2a methionine adenosyltransferase 2A gene DOID:3393 coronary artery disease ISO RGD:737506 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8852177 Mat2a methionine adenosyltransferase 2A gene DOID:630 genetic disease ISO RGD:737506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852177 Mat2a methionine adenosyltransferase 2A gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:619985 D RGD:9068941 20240210 RGD mRNA:altered expression:hippocampus|hypothalamus (rat) PMID:26180184|REF_RGD_ID:11074449 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:732737 D RGD:9068941 20220721 RGD protein:increased expression:colorectal mucosa (human) PMID:19198856|REF_RGD_ID:153002579 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:732737 D RGD:9068941 20220721 RGD human gene and cell line in a mouse model PMID:25823027|REF_RGD_ID:11085507 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:732737 D RGD:9068941 20220721 RGD protein:increased expression:colorectum, myofibroblast cell, cytoplasm (human) PMID:19277704|REF_RGD_ID:153002577 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:10283 prostate cancer ISO RGD:732737 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:20166126|REF_RGD_ID:5688351 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:10534 stomach cancer ISO RGD:732737 D RGD:9068941 20220721 RGD protein:increased expression:stomach (human) PMID:32489143|REF_RGD_ID:153002574 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:620108 D RGD:9068941 20220609 RGD PMID:29535146|REF_RGD_ID:152985548 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:2526 prostate adenocarcinoma ameliorates ISO RGD:732737 D RGD:9068941 20220721 RGD human cells in mouse model PMID:25664849|REF_RGD_ID:153002575 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732737 D RGD:9068941 20220721 RGD DNA:SNPs:introns: (rs2926702, rs11993276) (human) PMID:23144319|REF_RGD_ID:153002581 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:630 genetic disease ISO RGD:732737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732738 D RGD:9068941 20220721 RGD PMID:28273073|REF_RGD_ID:153002573 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732738 D RGD:9068941 20220721 RGD PMID:22556267|REF_RGD_ID:153002576 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:732737 D RGD:9068941 20220721 RGD protein:increased expression:mesothelium of pleural cavity (human) PMID:22011668|REF_RGD_ID:153002578 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12237244 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:9004702 Pregnancy Complications ISO RGD:620108 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterus (rat) PMID:20660062|REF_RGD_ID:5688349 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:9004980 Chronobiology Disorders ISO RGD:732738 D RGD:9068941 20220721 RGD PMID:27432117|REF_RGD_ID:153002580 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 8852191 Ncoa2 nuclear receptor coactivator 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732737 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:translocation:exon PMID:12676584|REF_RGD_ID:9590334 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050534 congenital stationary night blindness ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:12515255|PMID:28041643 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1319792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29207047 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1319792 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10090887|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15192030|PMID:15516930|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27535533|PMID:27628848|PMID:27739528|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29310964|PMID:29555955|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30718709|PMID:31212395|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31736247|PMID:31814694|PMID:31964843|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32717343|PMID:32783370|PMID:33223529|PMID:33546218|PMID:33841504|PMID:34008892|PMID:34906470|PMID:35886001|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1319792 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10090887|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15192030|PMID:15516930|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24677105|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27535533|PMID:27628848|PMID:27739528|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29555955|PMID:29706639|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30718709|PMID:31212395|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31736247|PMID:31814694|PMID:31964843|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32717343|PMID:32783370|PMID:33223529|PMID:33546218|PMID:33841504|PMID:34008892|PMID:34906470|PMID:35886001|PMID:35903041|PMID:36909829|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1319792 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10090887|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11444963|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15192030|PMID:15516930|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24677105|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26720470|PMID:26780318|PMID:26872967|PMID:27014590|PMID:27535533|PMID:27628848|PMID:27739528|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29555955|PMID:29706639|PMID:29847635|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30718709|PMID:31212395|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31736247|PMID:31814694|PMID:31964843|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32717343|PMID:32783370|PMID:33223529|PMID:33546218|PMID:33841504|PMID:34008892|PMID:34906470|PMID:35886001|PMID:35903041|PMID:36909829|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy | ClinVar Annotator: match by term: Bietti tapetoretinal degeneration with marginal corneal dystrophy PMID:10958761|PMID:23755871|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:29186038|PMID:30718709|PMID:33546218|PMID:9054934 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050795 cone dystrophy ISO RGD:1319792 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10880298|PMID:10958761|PMID:16103129|PMID:20335603|PMID:22427542|PMID:22968130|PMID:23134348|PMID:23755871|PMID:23940504|PMID:24265693|PMID:24938718|PMID:25312043|PMID:25346251|PMID:25474345|PMID:25525159|PMID:25698705|PMID:25741868|PMID:26593885|PMID:26780318|PMID:28041643|PMID:28118664|PMID:28224992|PMID:28341476|PMID:28492532|PMID:30060493|PMID:30190494|PMID:30718709|PMID:31522899|PMID:31736247|PMID:32531858|PMID:32783370|PMID:33546218|PMID:9054934|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25326637|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26764160|PMID:26766544|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28130426|PMID:28166811|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31129250|PMID:31144483|PMID:31456290|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31814693|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:32783370|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33301772|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:32036094|PMID:32037395|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32627976|PMID:32717343|PMID:32783370|PMID:32821503|PMID:32845050|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33261146|PMID:33301772|PMID:33369172|PMID:33375396|PMID:33546218|PMID:33691693|PMID:33732702|PMID:33841504|PMID:34008892|PMID:34214897|PMID:34321860|PMID:34906470|PMID:35119454|PMID:35260635|PMID:35608843|PMID:35886001|PMID:35903041|PMID:36209838|PMID:36284670|PMID:36909829|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0050817 Stargardt disease ISO RGD:1319792 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17562343|PMID:17576681|PMID:17724221|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20801516|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22334370|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:25999674|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26764160|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28248825|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29625472|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30578500|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:30945053|PMID:31129250|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31736247|PMID:31766579|PMID:31814693|PMID:31814694|PMID:31884623|PMID:31934596|PMID:31964843|PMID:31968401 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0110015 age related macular degeneration 2 ISO RGD:1319792 D RGD:7240710 20180130 OMIM 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0110015 age related macular degeneration 2 ISO RGD:1319792 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 2 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17562343|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20404325|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:25999674|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27032803|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28355279|PMID:28365912|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29706639|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31212395|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31766579|PMID:31964843|PMID:32036094|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32821503|PMID:33223529|PMID:33369172|PMID:33375396|PMID:33546218|PMID:33841504|PMID:34008892|PMID:34214897|PMID:34321860|PMID:34906470|PMID:35119454|PMID:35886001|PMID:35903041|PMID:36909829|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0110026 age related macular degeneration 14 ISO RGD:1319792 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:11017087|PMID:11444963|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:15516930|PMID:16400609|PMID:18285826|PMID:18977788|PMID:19217903|PMID:20981092|PMID:22264887|PMID:22589445|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24409374|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28446513|PMID:28492532|PMID:29925512|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:34906470|PMID:9054934|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0110188 Leber congenital amaurosis 14 ISO RGD:1319792 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 14 PMID:10958761|PMID:16546111|PMID:24938718|PMID:25312043|PMID:25544989|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:28947085|PMID:30718709|PMID:33546218|PMID:36909829|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0110354 retinitis pigmentosa 19 ISO RGD:1319792 D RGD:7240710 20180130 OMIM 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0110354 retinitis pigmentosa 19 ISO RGD:1319792 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 19 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17576681|PMID:17724221|PMID:18024811|PMID:18285826|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19265867|PMID:19365591|PMID:20128570|PMID:20554613|PMID:20696155|PMID:20981092|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24585425|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27032803|PMID:27353947|PMID:27535533|PMID:27583828|PMID:27775217|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28341476|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29854428|PMID:29925512|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30576320|PMID:30578500|PMID:30670881|PMID:30718709|PMID:30834176|PMID:31212395|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31766579|PMID:31964843|PMID:32235935|PMID:32278709|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32821503|PMID:33223529|PMID:33546218|PMID:33841504|PMID:34008892|PMID:34214897|PMID:34906470|PMID:35886001|PMID:35903041|PMID:36909829|PMID:9054934|PMID:9070931|PMID:9295268|PMID:92952680|PMID:9425888|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0110390 retinitis pigmentosa 1 ISO RGD:1319792 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 1 PMID:17325179|PMID:20029649|PMID:23419329|PMID:23769331|PMID:23982839|PMID:25444351|PMID:25741868|PMID:28492532|PMID:32307445 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:1319792 D RGD:7240710 20180130 OMIM 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:0111013 cone-rod dystrophy 3 ISO RGD:1319792 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 3 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24632595|PMID:24713488|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25356976|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27032803|PMID:27535533|PMID:27583828|PMID:27596865|PMID:27775217|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28355279|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29114839|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30820146|PMID:30834176|PMID:30902645|PMID:31129250|PMID:31212395|PMID:31318848|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31766579|PMID:31964843|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32483926|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32821503|PMID:32845050|PMID:33090715|PMID:33223529|PMID:33375396|PMID:33546218|PMID:33841504|PMID:34008892|PMID:34214897|PMID:34906470|PMID:35886001|PMID:36460718|PMID:36672815|PMID:36909829|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28118664|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32307445|PMID:32531858|PMID:32619608|PMID:33223529|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:14971589|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23949494|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31015497|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31736247|PMID:31814694|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:33223529|PMID:33375396|PMID:33546218|PMID:34008892|PMID:34906470|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1319792 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090887|PMID:10206579|PMID:10396622|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11702214|PMID:11726554|PMID:11846518|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16917483|PMID:17325136|PMID:17325179|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22334370|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26497376|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27030965|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30902645|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31736247|PMID:31814694|PMID:31964843|PMID:31968401|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32413971|PMID:32531858|PMID:32619608|PMID:32783370|PMID:32845050|PMID:32856788|PMID:33223529|PMID:33375396|PMID:33546218|PMID:33691693|PMID:34008892|PMID:34906470|PMID:35260635|PMID:35903041|PMID:36909829|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1319792 D RGD:9068941 20200609 RGD PMID:9466990|REF_RGD_ID:1598552 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:10871 age related macular degeneration ISO RGD:1319792 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration | ClinVar Annotator: match by term: MACULAR DEGENERATION, SENILE | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17562343|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19365591|PMID:20029649|PMID:20128570|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23953153|PMID:23982839|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:25999674|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27032803|PMID:27367509|PMID:27535533|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28355279|PMID:28365912|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29422768|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30834176|PMID:30945053|PMID:31212395|PMID:31456290|PMID:31522899|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31766579|PMID:31964843|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32619608|PMID:32821503|PMID:33223529|PMID:33375396|PMID:33546218|PMID:33841504|PMID:34008892|PMID:34214897|PMID:34321860|PMID:34906470|PMID:35886001|PMID:35903041|PMID:36909829|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:1242 globe disease ISO RGD:1319792 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:11527935|PMID:24265693|PMID:25741868|PMID:28118664|PMID:28492532|PMID:29925512|PMID:33546218 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:1432 blindness ISO RGD:1319792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:10958761|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:14791 Leber congenital amaurosis ISO RGD:1319792 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness PMID:10090887|PMID:10711710|PMID:10958761|PMID:11527935|PMID:11687513|PMID:19074458|PMID:21873672|PMID:23755871|PMID:23769331|PMID:24342785|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082885|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:25922843|PMID:26103963|PMID:26780318|PMID:26872967|PMID:28041643|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29854428|PMID:29925512|PMID:30060493|PMID:30718709|PMID:30834176|PMID:31522899|PMID:31766579|PMID:33546218|PMID:36909829|PMID:9781034 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:4448 macular degeneration ISO RGD:1319792 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy PMID:10090887|PMID:10206579|PMID:10458172|PMID:10634594|PMID:10711710|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11527935|PMID:11702214|PMID:11726554|PMID:11857735|PMID:11919200|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:17576681|PMID:17724221|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19365591|PMID:20335603|PMID:20647261|PMID:20696155|PMID:20960624|PMID:20981092|PMID:21330655|PMID:21786275|PMID:21911583|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22334370|PMID:22427542|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23143460|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24033266|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24453473|PMID:24509150|PMID:24713488|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25346251|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25921964|PMID:26103963|PMID:26229699|PMID:26261413|PMID:26527198|PMID:26593885|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27014590|PMID:27367509|PMID:27535533|PMID:27628848|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28327576|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28559085|PMID:28947085|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29186038|PMID:29310964|PMID:29461686|PMID:29555955|PMID:29847635|PMID:29925512|PMID:29971439|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30480703|PMID:30576320|PMID:30670881|PMID:30718709|PMID:31213501|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31736247|PMID:32036094|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32619608|PMID:32783370|PMID:33223529|PMID:33546218|PMID:33691693|PMID:34008892|PMID:34906470|PMID:35260635|PMID:35903041|PMID:36909829|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9536098|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:4448 macular degeneration susceptibility ISO RGD:1319792 D RGD:9068941 20200609 RGD PMID:9295268|REF_RGD_ID:1598551 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:574 peripheral nervous system disease ISO RGD:1319792 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:10958763|PMID:11017087|PMID:11444963|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:15516930|PMID:16400609|PMID:18285826|PMID:18977788|PMID:19265867|PMID:20981092|PMID:22247458|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28446513|PMID:28492532|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:34906470|PMID:9054934 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:630 genetic disease ISO RGD:1319792 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11328725|PMID:11444963|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12796258|PMID:14517951|PMID:15108289|PMID:15516930|PMID:15579991|PMID:16103129|PMID:16400609|PMID:17562343|PMID:17576681|PMID:18285826|PMID:18977788|PMID:19074458|PMID:19217903|PMID:20029649|PMID:20696155|PMID:20981092|PMID:21293320|PMID:21786275|PMID:22025579|PMID:22229821|PMID:22264887|PMID:22312191|PMID:22427542|PMID:22449572|PMID:22661473|PMID:23144455|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23953153|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24265693|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25312043|PMID:25333069|PMID:25474345|PMID:25640233|PMID:25712131|PMID:25741868|PMID:25921964|PMID:25999674|PMID:26103963|PMID:26247787|PMID:26527198|PMID:26593885|PMID:26743751|PMID:26780318|PMID:26872967|PMID:27535533|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28327576|PMID:28446513|PMID:28492532|PMID:28559085|PMID:29162642|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30060493|PMID:30718709|PMID:31456290|PMID:31522899|PMID:31964843|PMID:32278709|PMID:32531858|PMID:33223529|PMID:33375396|PMID:33546218|PMID:33841504|PMID:34008892|PMID:34321860|PMID:34906470|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9536098|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:8466 retinal degeneration ISO RGD:1319792 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.G1961E PMID:22661473|REF_RGD_ID:7829712 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:8466 retinal degeneration ISO RGD:1616873 D RGD:9068941 20200609 RGD PMID:19553623|REF_RGD_ID:7829710 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:8501 fundus dystrophy ISO RGD:1319792 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11594993|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16896346|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17562343|PMID:17576681|PMID:17893657|PMID:17932850|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19352439|PMID:19365591|PMID:20029649|PMID:20335603|PMID:20404325|PMID:20554613|PMID:20647261|PMID:20696155|PMID:20852892|PMID:20960624|PMID:20981092|PMID:21293320|PMID:21296825|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22334370|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23143460|PMID:23144455|PMID:23341817|PMID:23419329|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24632595|PMID:24677105|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25681002|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25910913|PMID:25921964|PMID:25922843|PMID:25999674|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26230768|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27583828|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28147405|PMID:28181551|PMID:28224992|PMID:28248825|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29641573|PMID:29847635|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30337596|PMID:30576320|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:31015497|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31397521|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31736247|PMID:31766579|PMID:31790517|PMID:31884623|PMID:31934596|PMID:31964843|PMID:31968401|PMID:32016942|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32619608 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:8501 fundus dystrophy ISO RGD:1319792 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:32627976|PMID:32783370|PMID:32821503|PMID:32893963|PMID:33090715|PMID:33129279|PMID:33223529|PMID:33261146|PMID:33301772|PMID:33375396|PMID:33546218|PMID:33691693|PMID:33732702|PMID:33841504|PMID:34008892|PMID:34073554|PMID:34321860|PMID:34906470|PMID:35260635|PMID:35886001|PMID:35903041|PMID:36209838|PMID:36284670|PMID:36460718|PMID:36672815|PMID:36909829|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:870 neuropathy ISO RGD:1319792 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10090887|PMID:10612508|PMID:10634594|PMID:10880298|PMID:10958763|PMID:11017087|PMID:11444963|PMID:11726554|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:15516930|PMID:16400609|PMID:18285826|PMID:18977788|PMID:19265867|PMID:20981092|PMID:22247458|PMID:22264887|PMID:23144455|PMID:23695285|PMID:24033266|PMID:24082139|PMID:24154662|PMID:24713488|PMID:25082885|PMID:25097241|PMID:25283059|PMID:25333069|PMID:25741868|PMID:26247787|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28446513|PMID:28492532|PMID:30718709|PMID:31522899|PMID:32278709|PMID:32531858|PMID:34906470|PMID:9054934 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9000290 Stargardt Disease 3 ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease 3 PMID:25741868|PMID:28492532 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1319792 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Macular dystrophy, concentric annular PMID:10090887|PMID:10958761|PMID:10958763|PMID:15614537|PMID:18285826|PMID:19074458|PMID:20696155|PMID:22264887|PMID:22328824|PMID:23443024|PMID:23591405|PMID:23695285|PMID:24342785|PMID:24713488|PMID:24938718|PMID:25082885|PMID:25097241|PMID:25312043|PMID:25525159|PMID:25544989|PMID:25741868|PMID:26261413|PMID:26780318|PMID:26872967|PMID:26976702|PMID:27775217|PMID:28041643|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29310964|PMID:29461686|PMID:29925512|PMID:30576320|PMID:30718709|PMID:32235935|PMID:33546218|PMID:36909829 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9000343 Vision Disorders ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10958761|PMID:10958763|PMID:11702214|PMID:15192030|PMID:16199547|PMID:24550365|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28118664|PMID:28492532|PMID:28559085|PMID:31212395 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9005690 Mandibulofacial Dysostosis with Mental Deficiency ISO RGD:1319792 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis with mental deficiency PMID:10396622|PMID:11017087|PMID:11527935|PMID:11726554|PMID:15579991|PMID:16682602|PMID:18854780|PMID:19074458|PMID:23419329|PMID:25283059|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30718709|PMID:33546218|PMID:36909829|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319792 D RGD:7240710 20180130 OMIM 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319792 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10090887|PMID:10206579|PMID:10396622|PMID:10413692|PMID:10458172|PMID:10509673|PMID:10612508|PMID:10634594|PMID:10634626|PMID:10711710|PMID:10746567|PMID:10874631|PMID:10880298|PMID:10958761|PMID:10958763|PMID:11017087|PMID:11123914|PMID:11328725|PMID:11346402|PMID:11379881|PMID:11385708|PMID:11444963|PMID:11527935|PMID:11673412|PMID:11687513|PMID:11702214|PMID:11726554|PMID:11818392|PMID:11846518|PMID:11857735|PMID:11919200|PMID:11973624|PMID:12037008|PMID:12192456|PMID:12202497|PMID:12515255|PMID:12592048|PMID:12796258|PMID:12962493|PMID:14517951|PMID:14709597|PMID:15108289|PMID:15161829|PMID:15192030|PMID:15494742|PMID:15516930|PMID:15579991|PMID:15614537|PMID:16103129|PMID:16123440|PMID:16199547|PMID:16303926|PMID:16400609|PMID:16533065|PMID:16546111|PMID:16682602|PMID:16703556|PMID:16917483|PMID:17277736|PMID:17296903|PMID:17325136|PMID:17325179|PMID:17562343|PMID:17576681|PMID:17724221|PMID:17893657|PMID:17982420|PMID:18024811|PMID:18285826|PMID:18334942|PMID:18414213|PMID:18652558|PMID:18854780|PMID:18977788|PMID:19028736|PMID:19074458|PMID:19217903|PMID:19243736|PMID:19265867|PMID:19339744|PMID:19365591|PMID:20029649|PMID:20108432|PMID:20128570|PMID:20335603|PMID:20404325|PMID:20647261|PMID:20696155|PMID:20801516|PMID:20981092|PMID:21293320|PMID:21330655|PMID:21786275|PMID:21873672|PMID:21911583|PMID:22025579|PMID:22076985|PMID:22229821|PMID:22247458|PMID:22264887|PMID:22312191|PMID:22328824|PMID:22334370|PMID:22395892|PMID:22427542|PMID:22449572|PMID:22589445|PMID:22661472|PMID:22661473|PMID:22735453|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23096905|PMID:23105016|PMID:23134348|PMID:23143460|PMID:23144455|PMID:23419329|PMID:23424971|PMID:23443024|PMID:23499370|PMID:23591405|PMID:23695285|PMID:23755871|PMID:23769331|PMID:23776498|PMID:23918662|PMID:23940504|PMID:23953153|PMID:23982839|PMID:24011517|PMID:24020726|PMID:24033266|PMID:24082139|PMID:24097981|PMID:24154662|PMID:24265693|PMID:24273789|PMID:24342785|PMID:24409374|PMID:24444108|PMID:24453473|PMID:24509150|PMID:24550365|PMID:24585425|PMID:24632595|PMID:24713488|PMID:24743636|PMID:24763286|PMID:24938718|PMID:25066811|PMID:25082829|PMID:25082885|PMID:25087612|PMID:25097154|PMID:25097241|PMID:25283059|PMID:25301883|PMID:25312043|PMID:25333069|PMID:25346251|PMID:25356976|PMID:25412400|PMID:25444351|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25544989|PMID:25640233|PMID:25698705|PMID:25712131|PMID:25741868|PMID:25884411|PMID:25910913|PMID:25921964|PMID:25922843|PMID:25999674|PMID:26024099|PMID:26047050|PMID:26092729|PMID:26103963|PMID:26161775|PMID:26229699|PMID:26247787|PMID:26261413|PMID:26355662|PMID:26377081|PMID:26527198|PMID:26551331|PMID:26593885|PMID:26720470|PMID:26743751|PMID:26764160|PMID:26780318|PMID:26872967|PMID:26976702|PMID:26992781|PMID:27014590|PMID:27030965|PMID:27032803|PMID:27353947|PMID:27367509|PMID:27535533|PMID:27628848|PMID:27699414|PMID:27739528|PMID:27775217|PMID:27820952|PMID:27939946|PMID:28041643|PMID:28044389|PMID:28118664|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28248825|PMID:28327576|PMID:28341476|PMID:28355279|PMID:28365912|PMID:28430335|PMID:28446513|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28771251|PMID:28947085|PMID:29099798|PMID:29114839|PMID:29145636|PMID:29162642|PMID:29178665|PMID:29186038|PMID:29310964|PMID:29343940|PMID:29422768|PMID:29461686|PMID:29526278|PMID:29555955|PMID:29625472|PMID:29641573|PMID:29847635|PMID:29847639|PMID:29847651|PMID:29848554|PMID:29854428|PMID:29925512|PMID:29971439|PMID:29975949|PMID:30029497|PMID:30054919|PMID:30060493|PMID:30093795|PMID:30190494|PMID:30337596|PMID:30480703|PMID:30576320|PMID:30643219|PMID:30670881|PMID:30718709|PMID:30798147|PMID:30820146|PMID:30834176|PMID:30903310|PMID:30945053|PMID:31129250|PMID:31144483|PMID:31212395|PMID:31213501|PMID:31318848|PMID:31429209|PMID:31456290|PMID:31522899|PMID:31543898|PMID:31576780|PMID:31614660|PMID:31618761|PMID:31630094|PMID:31736247|PMID:31766579|PMID:31814693|PMID:31814694|PMID:31884623|PMID:31934596 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319792 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:31964843|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32235935|PMID:32278709|PMID:32307445|PMID:32531858|PMID:32581362|PMID:32619608|PMID:32627976|PMID:32717343|PMID:32783370|PMID:32821503|PMID:32845050|PMID:32845068|PMID:33090715|PMID:33223529|PMID:33261146|PMID:33301772|PMID:33375396|PMID:33546218|PMID:33691693|PMID:33732702|PMID:33841504|PMID:34008892|PMID:34214897|PMID:34321860|PMID:34906470|PMID:35260635|PMID:35608843|PMID:35886001|PMID:35903041|PMID:36209838|PMID:36284670|PMID:36909829|PMID:8533764|PMID:9054934|PMID:9295268|PMID:92952680|PMID:9466990|PMID:9490294|PMID:9503029|PMID:9536098|PMID:9666097|PMID:9781034|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 susceptibility ISO RGD:1319792 D RGD:9068941 20200609 RGD DNA:mutation:exon:c.2041C>T(human) PMID:24342785|REF_RGD_ID:7829716 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 susceptibility ISO RGD:1319792 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:22328824|REF_RGD_ID:7815045 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9006630 Stargardt Disease 1 treatment ISO RGD:1319792 D RGD:9068941 20200609 RGD PMID:18463687|REF_RGD_ID:7815046 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9008296 Eye Abnormalities ISO RGD:1319792 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:11017087|PMID:11527935|PMID:19265867|PMID:22264887|PMID:24265693|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29925512|PMID:30576320|PMID:33546218|PMID:9054934 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9008818 Retinal Dystrophy, Early Onset Severe ISO RGD:1319792 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe PMID:10958761|PMID:16546111|PMID:24938718|PMID:25312043|PMID:25544989|PMID:25741868|PMID:26780318|PMID:28041643|PMID:28492532|PMID:28947085|PMID:30718709|PMID:33546218|PMID:36909829|PMID:9973280 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9296 cleft lip ISO RGD:1319792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436469 8852225 Abca4 ATP binding cassette subfamily A member 4 gene DOID:9335 scotoma ISO RGD:1319792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Central scotoma PMID:10958761|PMID:16199547|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28118664|PMID:28492532|PMID:28559085 8852282 CUNH15orf39 chromosome unknown C15orf39 homolog gene DOID:2717 Bloom syndrome ISO RGD:1604333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8852282 CUNH15orf39 chromosome unknown C15orf39 homolog gene DOID:5419 schizophrenia ISO RGD:1604333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8852282 CUNH15orf39 chromosome unknown C15orf39 homolog gene DOID:630 genetic disease ISO RGD:1604333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852282 CUNH15orf39 chromosome unknown C15orf39 homolog gene DOID:9256 colorectal cancer ISO RGD:1604333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8852299 Lhpp phospholysine phosphohistidine inorganic pyrophosphate phosphatase gene DOID:630 genetic disease ISO RGD:1606248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1347467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1347467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1347467 D RGD:7240710 20180130 OMIM 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1347467 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MAN1B1-CDG | ClinVar Annotator: match by term: Rafiq syndrome PMID:17576681|PMID:18414213|PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:28492532|PMID:28940310|PMID:29908352|PMID:30982612|PMID:31785789|PMID:9536098 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1347467 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:1059 intellectual disability ISO RGD:1347467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:1826 epilepsy ISO RGD:1347467 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:3652 Leigh disease ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:630 genetic disease ISO RGD:1347467 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:28492532|PMID:29908352 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8852311 Man1b1 mannosidase alpha class 1B member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1347467 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21763484|PMID:21937992|PMID:24348268|PMID:24566669|PMID:25741868|PMID:26279649|PMID:27148587|PMID:29908352 8852371 Pitpnm3 PITPNM family member 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant PMID:28492532 8852371 Pitpnm3 PITPNM family member 3 gene DOID:0050795 cone dystrophy ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868 8852371 Pitpnm3 PITPNM family member 3 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 8852371 Pitpnm3 PITPNM family member 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 8852371 Pitpnm3 PITPNM family member 3 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8852371 Pitpnm3 PITPNM family member 3 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8852371 Pitpnm3 PITPNM family member 3 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317841 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8852371 Pitpnm3 PITPNM family member 3 gene DOID:0111010 cone-rod dystrophy 5 ISO RGD:1317841 D RGD:7240710 20180130 OMIM 8852371 Pitpnm3 PITPNM family member 3 gene DOID:0111010 cone-rod dystrophy 5 ISO RGD:1317841 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 PMID:17377520|PMID:22405330|PMID:25472526|PMID:25741868|PMID:27160483|PMID:28492532|PMID:30718709|PMID:32483926|PMID:8586428 8852371 Pitpnm3 PITPNM family member 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1317841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17377520|PMID:22405330|PMID:25472526|PMID:25741868|PMID:27160483|PMID:28492532|PMID:30718709|PMID:8586428 8852371 Pitpnm3 PITPNM family member 3 gene DOID:630 genetic disease ISO RGD:1317841 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32483926 8852371 Pitpnm3 PITPNM family member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1317841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8852371 Pitpnm3 PITPNM family member 3 gene DOID:8501 fundus dystrophy ISO RGD:1317841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 8852406 Tpst1 tyrosylprotein sulfotransferase 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1318261 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs3757417) G>T (human) PMID:27354594|REF_RGD_ID:152177496 8852406 Tpst1 tyrosylprotein sulfotransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318261 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8852406 Tpst1 tyrosylprotein sulfotransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1318261 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8852406 Tpst1 tyrosylprotein sulfotransferase 1 gene DOID:14755 argininosuccinic aciduria ISO RGD:1318261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 8852406 Tpst1 tyrosylprotein sulfotransferase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8852406 Tpst1 tyrosylprotein sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1318261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:0050144 Kartagener syndrome ISO RGD:1620923 D RGD:9068941 20220825 MouseDO 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:0050144 Kartagener syndrome susceptibility ISO RGD:1348566 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutation:R2852X, R3004Q PMID:12142464|REF_RGD_ID:734893 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:0050545 visceral heterotaxy ISO RGD:1620923 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:0050651 atrioventricular septal defect ISO RGD:1620923 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1348566 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1348566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1348566 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:0110605 primary ciliary dyskinesia 7 ISO RGD:1348566 D RGD:7240710 20180130 OMIM 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:0110605 primary ciliary dyskinesia 7 ISO RGD:1348566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DNAH11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 PMID:12142464|PMID:16199547|PMID:17576681|PMID:18022865|PMID:20301301|PMID:20513915|PMID:22102620|PMID:22184204|PMID:24033266|PMID:24450482|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26729821|PMID:2690980|PMID:26909801|PMID:27637300|PMID:27637763|PMID:28492532|PMID:29467202|PMID:29997923|PMID:30067075|PMID:30919572|PMID:31040315|PMID:31507630|PMID:31607746|PMID:31765523|PMID:31772028|PMID:31879361|PMID:32253119|PMID:32367404|PMID:32502479|PMID:32622824|PMID:32633470|PMID:32860008|PMID:33447612|PMID:33608380|PMID:34008892|PMID:34298581|PMID:34513534|PMID:36003331|PMID:9536098|PMID:9585585 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:12336 male infertility ISO RGD:1348566 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Male infertility PMID:22184204|PMID:25741868 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:13088 periventricular leukomalacia ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:24033266|PMID:25741868|PMID:28492532 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:5223 infertility ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:28492532 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:630 genetic disease ISO RGD:1348566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:674 cleft palate ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:24033266|PMID:25741868|PMID:28492532 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:9000528 Coronary Disease ISO RGD:1348566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1348566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:24033266|PMID:25741868|PMID:28492532 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:9003370 Dyslipidemias ISO RGD:1348566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19060911 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:9004657 Weight Gain ISO RGD:1348566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8852424 Dnah11 dynein axonemal heavy chain 11 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18022865|PMID:20513915|PMID:21270641|PMID:21911699|PMID:22102620|PMID:22184204|PMID:22499950|PMID:22749724|PMID:23891469|PMID:23998934|PMID:24033266|PMID:24450482|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26729821|PMID:2690980|PMID:26909801|PMID:27637300|PMID:27637763|PMID:27854218|PMID:28492532|PMID:28976722|PMID:29363216|PMID:29467202|PMID:29997923|PMID:30067075|PMID:30359267|PMID:30919572|PMID:31040315|PMID:31213628|PMID:31507630|PMID:31607746|PMID:31633846|PMID:31650533|PMID:31772028|PMID:31879361|PMID:32253119|PMID:32367404|PMID:32502479|PMID:32622824|PMID:33240318|PMID:33447612|PMID:33577779|PMID:33608380|PMID:33715250|PMID:34008892|PMID:34210339|PMID:34513534|PMID:34556108|PMID:35440622|PMID:36003331|PMID:9536098 8852521 Wdsub1 WD repeat, sterile alpha motif and U-box domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1346298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 8852521 Wdsub1 WD repeat, sterile alpha motif and U-box domain containing 1 gene DOID:630 genetic disease ISO RGD:1346298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852551 Slc16a11 solute carrier family 16 member 11 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8852551 Slc16a11 solute carrier family 16 member 11 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8852551 Slc16a11 solute carrier family 16 member 11 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1322416 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8852551 Slc16a11 solute carrier family 16 member 11 gene DOID:12177 common variable immunodeficiency ISO RGD:1322416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8852551 Slc16a11 solute carrier family 16 member 11 gene DOID:2729 dyskeratosis congenita ISO RGD:1322416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8852551 Slc16a11 solute carrier family 16 member 11 gene DOID:630 genetic disease ISO RGD:1322416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852568 Fam107b family with sequence similarity 107 member B gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1346416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8852568 Fam107b family with sequence similarity 107 member B gene DOID:630 genetic disease ISO RGD:1346416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852583 Btbd17 BTB domain containing 17 gene DOID:630 genetic disease ISO RGD:2301265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732137 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:127 leiomyoma disease_progression ISO RGD:732137 D RGD:9068941 20200609 RGD associated with Uterine Neoplasms;protein:increased expression:serum PMID:7446622|REF_RGD_ID:2314924 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:13129 severe pre-eclampsia severity ISO RGD:732137 D RGD:9068941 20230525 RGD mRNA:increased expression:decidua basalis (human) PMID:24331737|REF_RGD_ID:329845529 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:1612 breast cancer ISO RGD:732137 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10508127|REF_RGD_ID:2314923 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:4450 renal cell carcinoma ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:17692401|REF_RGD_ID:2314919 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:630 genetic disease ISO RGD:732137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:8488 polyhydramnios ISO RGD:732137 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:1789335|REF_RGD_ID:2311543 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9002165 Diabetic Nephropathies ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:1789335|REF_RGD_ID:2311543 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732137 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15907336|REF_RGD_ID:2314920 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:7446622|REF_RGD_ID:2314924 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732137 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms PMID:15218296|REF_RGD_ID:2314922 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621752 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16619500|REF_RGD_ID:1582109 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16619500 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732137 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9007715 Endometrial Neoplasms ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:15491750|REF_RGD_ID:2314921 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9008023 Memory Disorders ISO RGD:732137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11730987 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9352 type 2 diabetes mellitus ISO RGD:621752 D RGD:9068941 20200609 RGD PMID:16967782|REF_RGD_ID:2306436 8852591 Lnpep leucyl and cystinyl aminopeptidase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732137 D RGD:9068941 20200609 RGD PMID:11701721|REF_RGD_ID:2311542 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:0111723 Jacobsen Syndrome ISO RGD:737031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:10608 celiac disease ISO RGD:737031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:5419 schizophrenia ISO RGD:737031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:630 genetic disease ISO RGD:737031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9004009 Reperfusion Injury ISO RGD:737031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2583 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:17622743|REF_RGD_ID:2313849 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9007364 Mouth Neoplasms disease_progression ISO RGD:2583 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression: PMID:17708355|REF_RGD_ID:2303822 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9007661 Dwarfism ISO RGD:737031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9074 systemic lupus erythematosus ISO RGD:737031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:10554 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:19225563|REF_RGD_ID:2313847 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737031 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:19225563|REF_RGD_ID:2313847 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737031 D RGD:9068941 20200609 RGD PMID:1982251|REF_RGD_ID:2313850 8852638 Ets1 ETS proto-oncogene 1, transcription factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737031 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:1686010|REF_RGD_ID:2313901 8852667 Vwf von Willebrand factor gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1347936 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8852667 Vwf von Willebrand factor gene DOID:0050486 exanthem ISO RGD:1347936 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8852667 Vwf von Willebrand factor gene DOID:0050989 episodic ataxia type 1 ISO RGD:1347936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8852667 Vwf von Willebrand factor gene DOID:0060041 autism spectrum disorder ISO RGD:1347936 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8852667 Vwf von Willebrand factor gene DOID:0060224 atrial fibrillation ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17890461 8852667 Vwf von Willebrand factor gene DOID:0060224 atrial fibrillation treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:21497043|REF_RGD_ID:7205648 8852667 Vwf von Willebrand factor gene DOID:0060573 von Willebrand's disease 1 ISO RGD:1347936 D RGD:7240710 20180130 OMIM 8852667 Vwf von Willebrand factor gene DOID:0060573 von Willebrand's disease 1 ISO RGD:1347936 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: VWD, TYPE 1 | ClinVar Annotator: match by term: von Willebrand disease type 1 | ClinVar Annotator: match by term: von Willebrand disease, type 1, susceptibility to PMID:10669167|PMID:10845912|PMID:10887119|PMID:10959712|PMID:11057846|PMID:11159522|PMID:11325649|PMID:11529461|PMID:11686103|PMID:11698279|PMID:11756169|PMID:11776047|PMID:12043692|PMID:12176890|PMID:12211196|PMID:12353070|PMID:12353087|PMID:12551832|PMID:12588349|PMID:12649144|PMID:12737944|PMID:1301136|PMID:1302613|PMID:1373334|PMID:1415226|PMID:14525793|PMID:14613933|PMID:15461624|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16321553|PMID:16706266|PMID:1672694|PMID:16870550|PMID:16889557|PMID:16894469|PMID:16925796|PMID:16953269|PMID:16985174|PMID:17080221|PMID:17087728|PMID:17090649|PMID:17119126|PMID:17155947|PMID:17190853|PMID:17200787|PMID:17296575|PMID:1729889|PMID:17488667|PMID:18094571|PMID:18162126|PMID:18230755|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18344424|PMID:18384353|PMID:18485763|PMID:18510569|PMID:18647226|PMID:18712522|PMID:18805962|PMID:18841300|PMID:19060241|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19372260|PMID:19404524|PMID:19431182|PMID:19453940|PMID:19506353|PMID:19506354|PMID:19506361|PMID:19506362|PMID:19566550|PMID:19624459|PMID:19687512|PMID:19943880|PMID:19951969|PMID:2010538|PMID:20118404|PMID:20147343|PMID:20231421|PMID:20301765|PMID:20305138|PMID:20317142|PMID:20351307|PMID:20371742|PMID:20409624|PMID:20418283|PMID:20492463|PMID:20586924|PMID:20590881|PMID:20682599|PMID:20801902|PMID:20838735|PMID:20851871|PMID:20981092|PMID:21251206|PMID:21346256|PMID:21362127|PMID:21371195|PMID:21410641|PMID:21429375|PMID:21534937|PMID:21632843|PMID:21711445|PMID:21794096|PMID:22102201|PMID:22102202|PMID:22102206|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22431572|PMID:22507569|PMID:22578129|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23179108|PMID:23216583|PMID:23340442|PMID:23349392|PMID:23354996|PMID:23355534|PMID:23407766|PMID:23426949|PMID:23520336|PMID:23621778|PMID:23636243|PMID:23648131|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23777763|PMID:23834637|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24270421|PMID:24337418|PMID:24482836|PMID:24598842|PMID:24675615|PMID:24712919|PMID:24928861|PMID:24954083|PMID:25103891|PMID:25185554|PMID:25564403|PMID:25662333|PMID:25689060|PMID:25696906|PMID:25741868|PMID:25741869|PMID:25753785|PMID:25779970|PMID:25780857|PMID:26200876|PMID:26206100|PMID:26207643|PMID:26245874|PMID:26270243|PMID:26345337|PMID:26420797|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26879396|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27007659|PMID:27320760|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27483487|PMID:27532107|PMID:27533707|PMID:27535533|PMID:27596108|PMID:27683759|PMID:27785872|PMID:27885890|PMID:27889474|PMID:27913545|PMID:27978591|PMID:28060120|PMID:28083987|PMID:28091443|PMID:28436749|PMID:28492532|PMID:28497886|PMID:28536718|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28916584|PMID:28924049|PMID:28971901|PMID:28987708|PMID:29220693|PMID:29388750|PMID:29423401|PMID:29427305|PMID:29590070|PMID:29742318|PMID:29893454|PMID:29924855|PMID:29984440|PMID:30046704|PMID:30349898|PMID:30358069|PMID:30361419|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:30817071|PMID:31026269|PMID:31035301|PMID:31064749|PMID:31249928|PMID:31349985|PMID:31532876|PMID:31589614|PMID:31605304|PMID:31618753|PMID:31887760|PMID:31968368|PMID:32108991|PMID:32224444|PMID:3257148|PMID:32573891|PMID:32581362|PMID:3259690|PMID:32609846|PMID:32640909|PMID:32722784|PMID:32803740|PMID:32935436|PMID:33113216|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:33587123|PMID:33711653|PMID:33807613|PMID:33942438|PMID:34272389|PMID:34355501|PMID:34426522|PMID:34494337|PMID:34532631|PMID:34596727|PMID:34662354|PMID:34697415|PMID:34708896|PMID:34758185|PMID:34807970|PMID:34828413|PMID:3487353|PMID:3488775|PMID:35343054|PMID:35452508|PMID:35505650|PMID:35552711|PMID:36299619|PMID:36580664|PMID:6696046|PMID:7620154|PMID:7734373|PMID:7989040|PMID:8088787|PMID:8096943|PMID:8134377|PMID:8165603|PMID:8367445|PMID:8456430 8852667 Vwf von Willebrand factor gene DOID:0060573 von Willebrand's disease 1 ISO RGD:1347936 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: VWD, TYPE 1 | ClinVar Annotator: match by term: von Willebrand disease type 1 | ClinVar Annotator: match by term: von Willebrand disease, type 1, susceptibility to PMID:8456432|PMID:8486782|PMID:8500791|PMID:8562925|PMID:8839833|PMID:8865544|PMID:9198195|PMID:9253800|PMID:9473222|PMID:9684781|PMID:9723578 8852667 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:7240710 20180130 OMIM 8852667 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: VWD, TYPE 2 | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N PMID:10233434|PMID:10792299|PMID:10845912|PMID:10959712|PMID:11150026|PMID:11159522|PMID:11325649|PMID:11583318|PMID:11686103|PMID:11686104|PMID:11698279|PMID:11776047|PMID:12080112|PMID:12176890|PMID:12211196|PMID:12353087|PMID:12393698|PMID:12406074|PMID:12588349|PMID:12588351|PMID:12649144|PMID:12737944|PMID:1324533|PMID:1373334|PMID:1380739|PMID:1409710|PMID:1415226|PMID:1419803|PMID:1419804|PMID:14525793|PMID:14755371|PMID:15041272|PMID:15226181|PMID:15249683|PMID:15297300|PMID:1537829|PMID:15461624|PMID:1557393|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16221672|PMID:16246252|PMID:16247740|PMID:16321553|PMID:16322474|PMID:16704443|PMID:16706266|PMID:1672694|PMID:1673047|PMID:16870550|PMID:16889557|PMID:16894469|PMID:16953269|PMID:16985174|PMID:17000885|PMID:17080221|PMID:17087728|PMID:17090649|PMID:17119126|PMID:17155947|PMID:17190853|PMID:17296575|PMID:1729889|PMID:17408416|PMID:17598021|PMID:1761120|PMID:17681836|PMID:18036186|PMID:18094571|PMID:18162126|PMID:18230755|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18344424|PMID:18384353|PMID:18485763|PMID:18510569|PMID:18647226|PMID:18712522|PMID:18725999|PMID:18805962|PMID:18841300|PMID:18986390|PMID:19060241|PMID:1906179|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19404524|PMID:19431182|PMID:19453940|PMID:19506354|PMID:19506361|PMID:19506362|PMID:19566550|PMID:19624459|PMID:19630771|PMID:19687512|PMID:19740526|PMID:19943880|PMID:19951969|PMID:2010538|PMID:2011604|PMID:20118404|PMID:2018834|PMID:20200350|PMID:20231421|PMID:20301765|PMID:20303469|PMID:20305138|PMID:20317142|PMID:20335223|PMID:20345715|PMID:20351307|PMID:20371742|PMID:20409624|PMID:20492463|PMID:20586924|PMID:20682599|PMID:20713003|PMID:20801902|PMID:20838735|PMID:20851871|PMID:20981092|PMID:2104761|PMID:21251206|PMID:21346256|PMID:21371195|PMID:21410641|PMID:21429375|PMID:21534937|PMID:21711445|PMID:21794096|PMID:21967679|PMID:22077376|PMID:22102198|PMID:22102201|PMID:22102202|PMID:22197721|PMID:22207689|PMID:22315491|PMID:22329792|PMID:22371917|PMID:22372972|PMID:22431572|PMID:22473027|PMID:22507569|PMID:22537243|PMID:22578129|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23110044|PMID:23179108|PMID:23216583|PMID:23311757|PMID:23322777|PMID:23340442|PMID:23349392|PMID:23354996|PMID:23355534|PMID:23406206|PMID:23407766|PMID:23426949|PMID:23520336|PMID:23621778|PMID:23636243|PMID:23648131|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23777763|PMID:23819767|PMID:2385594|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24270421|PMID:24337418|PMID:24351655|PMID:24385719|PMID:24598842|PMID:24675615|PMID:24712919|PMID:24928861|PMID:25051961|PMID:25103891|PMID:25185554|PMID:25293780|PMID:25431025|PMID:25477497|PMID:2557900|PMID:25662333|PMID:25689060|PMID:25696906|PMID:25728415|PMID:25741868|PMID:25753785|PMID:25779970|PMID:25780857|PMID:25851809|PMID:26200876|PMID:26206100|PMID:26207643|PMID:26210168|PMID:26270243|PMID:26345337|PMID:26420797|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26879396|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27007659|PMID:27029718|PMID:27214365|PMID:27292226|PMID:27317792|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27483487|PMID:27532107|PMID:27533707|PMID:27535533|PMID:27596108|PMID:27683759|PMID:27761512|PMID:27766062|PMID:27785872|PMID:2786201|PMID:27885890|PMID:27889474|PMID:27913545|PMID:27978591|PMID:28060120|PMID:28083987|PMID:28091443|PMID:28436749|PMID:28492532|PMID:28497886|PMID:28533135|PMID:28536718|PMID:28544236|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28748566|PMID:28916584|PMID:28924049|PMID:28971901|PMID:28987708|PMID:29186156|PMID:29220693|PMID:29341351|PMID:29388750|PMID:29590070|PMID:29604837|PMID:29742318|PMID:29893454|PMID:29924503|PMID:29924855|PMID:29984440|PMID:30046704|PMID:30046717|PMID:30358069|PMID:30361419|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:30792900|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31240882|PMID:31249928|PMID:3132965|PMID:31349985|PMID:31423628 8852667 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 ISO RGD:1347936 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: VWD, TYPE 2 | ClinVar Annotator: match by term: Von Willebrand disease type 2A | ClinVar Annotator: match by term: Von Willebrand disease type 2B | ClinVar Annotator: match by term: von Willebrand disease type 2 | ClinVar Annotator: match by term: von Willebrand disease type 2M | ClinVar Annotator: match by term: von Willebrand disease type 2N PMID:31464689|PMID:31532876|PMID:31618753|PMID:31887760|PMID:31939074|PMID:31968368|PMID:32108991|PMID:32224444|PMID:32573891|PMID:32581362|PMID:3259690|PMID:32609846|PMID:32640909|PMID:32722784|PMID:32803740|PMID:33113216|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:33570651|PMID:33587123|PMID:33711653|PMID:33807613|PMID:33942438|PMID:34272389|PMID:34355501|PMID:34426522|PMID:34494337|PMID:34532631|PMID:34596727|PMID:34662354|PMID:34697415|PMID:34708896|PMID:34758185|PMID:34803902|PMID:34807970|PMID:34828413|PMID:3487353|PMID:3488775|PMID:35307943|PMID:35343054|PMID:35452508|PMID:36226571|PMID:36580664|PMID:6426499|PMID:6696046|PMID:6767976|PMID:6773982|PMID:7620154|PMID:7734373|PMID:7789955|PMID:7906590|PMID:8088787|PMID:8096943|PMID:8134377|PMID:8348943|PMID:8435341|PMID:8456431|PMID:8456432|PMID:8486782|PMID:8500791|PMID:8562925|PMID:8621553|PMID:8622978|PMID:8630394|PMID:8839833|PMID:8865541|PMID:8865544|PMID:9058716|PMID:9108394|PMID:9198195|PMID:9308766|PMID:9569179|PMID:9608359|PMID:9684781|PMID:9723578|PMID:9858249 8852667 Vwf von Willebrand factor gene DOID:0060574 von Willebrand's disease 2 treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:20589313|REF_RGD_ID:11079203 8852667 Vwf von Willebrand factor gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347936 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8852667 Vwf von Willebrand factor gene DOID:0060903 thrombosis ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombus PMID:12649144|PMID:14525793|PMID:15755288|PMID:15842375|PMID:16985174|PMID:17080221|PMID:17119126|PMID:17190853|PMID:18162126|PMID:18510569|PMID:19506354|PMID:20409624|PMID:20682599|PMID:21346256|PMID:22197721|PMID:23355534|PMID:23426949|PMID:24033266|PMID:24928861|PMID:25103891|PMID:25741868|PMID:25780857|PMID:26467025|PMID:27380589|PMID:27596108|PMID:28091443|PMID:28971901|PMID:30722078|PMID:30817071|PMID:31887760|PMID:31968368|PMID:32108991|PMID:32609846|PMID:33113216|PMID:33477601|PMID:33536631|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34828413 8852667 Vwf von Willebrand factor gene DOID:0111054 von Willebrand's disease 3 ISO RGD:1347936 D RGD:7240710 20180130 OMIM 8852667 Vwf von Willebrand factor gene DOID:0111054 von Willebrand's disease 3 ISO RGD:1347936 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: VON WILLEBRAND DISEASE, TYPE III | ClinVar Annotator: match by term: von Willebrand disease type 3 PMID:10959712|PMID:11057846|PMID:11122100|PMID:11529461|PMID:11686103|PMID:12008946|PMID:12176890|PMID:12211196|PMID:12353070|PMID:12353087|PMID:12588349|PMID:12737944|PMID:1301136|PMID:1302613|PMID:1415226|PMID:15461624|PMID:15670054|PMID:1581215|PMID:16115133|PMID:16321553|PMID:16643449|PMID:16706266|PMID:16894469|PMID:16953269|PMID:16985174|PMID:17080221|PMID:17190853|PMID:17296575|PMID:18315546|PMID:1832934|PMID:18344424|PMID:18485763|PMID:18712522|PMID:18805962|PMID:18841300|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19372260|PMID:19404524|PMID:19431182|PMID:19500169|PMID:19506361|PMID:19566550|PMID:19601990|PMID:19624459|PMID:20147343|PMID:20231421|PMID:20301765|PMID:20371742|PMID:20409624|PMID:20492463|PMID:20586924|PMID:20801902|PMID:20851871|PMID:20981092|PMID:21251206|PMID:21362127|PMID:21371195|PMID:21410641|PMID:21534937|PMID:21711445|PMID:22102201|PMID:22102202|PMID:22102206|PMID:22197721|PMID:22315491|PMID:22431572|PMID:22507569|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23179108|PMID:23216583|PMID:23311757|PMID:23340442|PMID:23354996|PMID:23407766|PMID:23426949|PMID:23636243|PMID:23647798|PMID:23648131|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23777763|PMID:23834637|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24675615|PMID:24712919|PMID:24928861|PMID:24954083|PMID:25741868|PMID:25779970|PMID:26207643|PMID:26270243|PMID:26420797|PMID:26467025|PMID:26764160|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27007659|PMID:27532107|PMID:27533707|PMID:27766062|PMID:28492532|PMID:28497886|PMID:28581694|PMID:28640903|PMID:28971901|PMID:29220693|PMID:29423401|PMID:29427305|PMID:29590070|PMID:30361419|PMID:30488424|PMID:30690834|PMID:31026269|PMID:31064749|PMID:31349985|PMID:31352677|PMID:31532876|PMID:32224444|PMID:32581362|PMID:32722784|PMID:33113216|PMID:33550700|PMID:33556167|PMID:33711653|PMID:33807613|PMID:34272389|PMID:34298581|PMID:34351388|PMID:34355501|PMID:34426522|PMID:34494337|PMID:34662354|PMID:34697415|PMID:34758185|PMID:34807970|PMID:35343054|PMID:35505650|PMID:7989040|PMID:8134377|PMID:8165603|PMID:8367445|PMID:8500791|PMID:8562925|PMID:8865544|PMID:9569178|PMID:9684781 8852667 Vwf von Willebrand factor gene DOID:10159 osteonecrosis ISO RGD:1347936 D RGD:9068941 20200625 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) PMID:16547717|REF_RGD_ID:30309948 8852667 Vwf von Willebrand factor gene DOID:10763 hypertension ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12149661|PMID:12425201|PMID:22352330 8852667 Vwf von Willebrand factor gene DOID:10763 hypertension treatment ISO RGD:621759 D RGD:9068941 20200609 RGD associated with Experimental Diabetes Mellitus PMID:14737039|REF_RGD_ID:1601646 8852667 Vwf von Willebrand factor gene DOID:10941 intracranial aneurysm ISO RGD:1347936 D RGD:9068941 20230202 RGD protein:increased expression:serum, artery PMID:32602008|REF_RGD_ID:155882593 8852667 Vwf von Willebrand factor gene DOID:12134 factor VIII deficiency ISO RGD:1347936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:25741868 8852667 Vwf von Willebrand factor gene DOID:12134 factor VIII deficiency treatment ISO RGD:1553644 D RGD:9068941 20200609 RGD PMID:25955153|REF_RGD_ID:11073776 8852667 Vwf von Willebrand factor gene DOID:1247 blood coagulation disease ISO RGD:1347936 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:11686103|PMID:12176890|PMID:12211196|PMID:12353087|PMID:1419803|PMID:15041272|PMID:15461624|PMID:1557393|PMID:15670054|PMID:1581215|PMID:16115133|PMID:16321553|PMID:16706266|PMID:1672694|PMID:16953269|PMID:16985174|PMID:17190853|PMID:1832934|PMID:18712522|PMID:1906877|PMID:1918030|PMID:19506353|PMID:19740526|PMID:2010538|PMID:20301765|PMID:20409624|PMID:20586924|PMID:20981092|PMID:21371195|PMID:21534937|PMID:22077376|PMID:22197721|PMID:22507569|PMID:22875612|PMID:23179108|PMID:23426949|PMID:23636243|PMID:23648131|PMID:23819767|PMID:24029428|PMID:24033266|PMID:24928861|PMID:25662333|PMID:25741868|PMID:26207643|PMID:26467025|PMID:26764160|PMID:27029718|PMID:27320760|PMID:27913545|PMID:28581694|PMID:28916584|PMID:28971901|PMID:29590070|PMID:29924855|PMID:30046704|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:31064749|PMID:31249928|PMID:31349985|PMID:31464689|PMID:32935436|PMID:33556167|PMID:33711653|PMID:34355501|PMID:34708896|PMID:36299619|PMID:6773982|PMID:8456432|PMID:8500791|PMID:8630394|PMID:8865544|PMID:9684781|PMID:9723578 8852667 Vwf von Willebrand factor gene DOID:12531 von Willebrand's disease ISO RGD:1347936 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Von Willebrand disease, recessive form | ClinVar Annotator: match by term: von Willebrand disorder PMID:10233434|PMID:10669167|PMID:10845912|PMID:10887119|PMID:10959712|PMID:11057846|PMID:11122100|PMID:11150026|PMID:11159522|PMID:11325649|PMID:11529461|PMID:11583318|PMID:11686103|PMID:11686104|PMID:11756169|PMID:11776047|PMID:12008946|PMID:12043692|PMID:12080112|PMID:12176890|PMID:12211196|PMID:12353070|PMID:12353087|PMID:12551832|PMID:12588349|PMID:12649144|PMID:12737944|PMID:1301136|PMID:1302613|PMID:1324533|PMID:1380739|PMID:1415226|PMID:1419803|PMID:14525793|PMID:14613933|PMID:15041272|PMID:15226181|PMID:15249683|PMID:15297300|PMID:1537829|PMID:15461624|PMID:1557393|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16221672|PMID:16246252|PMID:16247740|PMID:16321553|PMID:16322474|PMID:16704443|PMID:16706266|PMID:1672694|PMID:1673047|PMID:16870550|PMID:16889557|PMID:16894469|PMID:16925796|PMID:16953269|PMID:16985174|PMID:17000885|PMID:17080221|PMID:17087728|PMID:17119126|PMID:17155947|PMID:17190853|PMID:17200787|PMID:17296575|PMID:1729889|PMID:17408416|PMID:1761120|PMID:17681836|PMID:18036186|PMID:18094571|PMID:18162126|PMID:18230755|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18344424|PMID:18384353|PMID:18449422|PMID:18485763|PMID:18510569|PMID:18712522|PMID:18805962|PMID:18841300|PMID:18986390|PMID:19060241|PMID:1906179|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19372260|PMID:19404524|PMID:19431182|PMID:19453940|PMID:19470641|PMID:19506353|PMID:19506354|PMID:19506361|PMID:19566550|PMID:19624459|PMID:19630771|PMID:19630772|PMID:19687512|PMID:19740526|PMID:19943880|PMID:19951969|PMID:2010538|PMID:20118404|PMID:20147343|PMID:2018834|PMID:20230424|PMID:20231421|PMID:20301765|PMID:20305138|PMID:20317142|PMID:20345715|PMID:20351307|PMID:20371742|PMID:20409624|PMID:20418283|PMID:20492463|PMID:20586924|PMID:20590881|PMID:20682599|PMID:20713003|PMID:20801902|PMID:20838735|PMID:20851871|PMID:20981092|PMID:2104761|PMID:21251206|PMID:21346256|PMID:21362127|PMID:21371195|PMID:21393328|PMID:21410641|PMID:21429375|PMID:21534937|PMID:21711445|PMID:21794096|PMID:21967679|PMID:22077376|PMID:22102201|PMID:22102202|PMID:22102206|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22371917|PMID:22372972|PMID:22431572|PMID:22473027|PMID:22507569|PMID:22537243|PMID:22578129|PMID:22871923|PMID:22875612|PMID:22995991|PMID:23110044|PMID:23179108|PMID:23216583|PMID:23311757|PMID:23322777|PMID:23335371|PMID:23340442|PMID:23349392|PMID:23354996|PMID:23355534|PMID:23406206|PMID:23407766|PMID:23426949|PMID:23520336|PMID:23636243|PMID:23647798|PMID:23648131|PMID:23690449|PMID:23702511|PMID:23775583|PMID:23819767|PMID:23834637|PMID:2385594|PMID:23886775|PMID:24029428|PMID:24033266|PMID:24270421|PMID:24337418|PMID:24351655|PMID:24385719|PMID:24482836|PMID:24598842|PMID:24675615|PMID:24712919|PMID:24800796|PMID:24928861|PMID:24954083|PMID:25051961|PMID:25103891|PMID:25185554|PMID:25293780|PMID:25431025|PMID:25477497|PMID:25662333|PMID:25689060|PMID:25690668|PMID:25696906|PMID:25741868|PMID:25753785|PMID:25779970|PMID:25780857|PMID:25851809|PMID:26046366|PMID:26200876|PMID:26206100|PMID:26207643|PMID:26210168|PMID:26245874|PMID:26270243|PMID:26345337|PMID:26420797|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26879396|PMID:26917779|PMID:26986123|PMID:26988807|PMID:27007659|PMID:27029718|PMID:27214365|PMID:27317792|PMID:27320760|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27483487|PMID:27532107|PMID:27533707|PMID:27596108|PMID:27683759|PMID:27766062|PMID:27785872|PMID:2786201|PMID:27885890|PMID:27889474|PMID:27913545|PMID:27978591|PMID:28060120|PMID:28083987|PMID:28091443|PMID:28492532|PMID:28497886|PMID:28536718|PMID:28544236|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28748566|PMID:28916584|PMID:28924049|PMID:28971901|PMID:29186156|PMID:29220693|PMID:29388750|PMID:29423401|PMID:29427305|PMID:29604837|PMID:29742318|PMID:29924503|PMID:29924855|PMID:29984440|PMID:30046704|PMID:30046717|PMID:30349898|PMID:30358069|PMID:30361419|PMID:30488424|PMID:30565388|PMID:30690834|PMID:30722078|PMID:30792900|PMID:30817071 8852667 Vwf von Willebrand factor gene DOID:12531 von Willebrand's disease ISO RGD:1347936 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Von Willebrand disease, recessive form | ClinVar Annotator: match by term: von Willebrand disorder PMID:31026269|PMID:31064749|PMID:31240882|PMID:31249928|PMID:31349985|PMID:31464689|PMID:31532876|PMID:31589614|PMID:31618753|PMID:31887760|PMID:31939074|PMID:31968368|PMID:32108991|PMID:32224444|PMID:3257148|PMID:32573891|PMID:32581362|PMID:3259690|PMID:32609846|PMID:32722784|PMID:32935436|PMID:33113216|PMID:33341070|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:33570651|PMID:33587123|PMID:33618961|PMID:33711653|PMID:33763999|PMID:33807613|PMID:33942438|PMID:34272389|PMID:34355501|PMID:34411772|PMID:34426522|PMID:34494337|PMID:34596727|PMID:34662354|PMID:34697415|PMID:34708896|PMID:34714369|PMID:34758185|PMID:34803902|PMID:34807970|PMID:34828413|PMID:3487353|PMID:3488775|PMID:35307943|PMID:35343054|PMID:35505650|PMID:35552711|PMID:36226571|PMID:36299619|PMID:36580664|PMID:6696046|PMID:6773982|PMID:7620154|PMID:7734373|PMID:7906590|PMID:7989040|PMID:8088787|PMID:8096943|PMID:8134377|PMID:8165603|PMID:8348943|PMID:8367445|PMID:8456430|PMID:8456431|PMID:8456432|PMID:8486782|PMID:8500791|PMID:8562925|PMID:8621553|PMID:8630394|PMID:8865541|PMID:8865544|PMID:9058716|PMID:9198195|PMID:9253800|PMID:9308766|PMID:9473222|PMID:9608359|PMID:9684781|PMID:9723578 8852667 Vwf von Willebrand factor gene DOID:12531 von Willebrand's disease treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:26239086|REF_RGD_ID:11079196 8852667 Vwf von Willebrand factor gene DOID:1287 cardiovascular system disease ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659 8852667 Vwf von Willebrand factor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:22295953|REF_RGD_ID:7207031 8852667 Vwf von Willebrand factor gene DOID:13241 Behcet's disease ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:15849757|REF_RGD_ID:1580642 8852667 Vwf von Willebrand factor gene DOID:13809 familial combined hyperlipidemia ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18417194|REF_RGD_ID:13207412 8852667 Vwf von Willebrand factor gene DOID:1588 thrombocytopenia ISO RGD:1347936 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11122100|PMID:11325649|PMID:11686103|PMID:12176890|PMID:12211196|PMID:12353087|PMID:12649144|PMID:12737944|PMID:14525793|PMID:15461624|PMID:15670054|PMID:15755288|PMID:1581215|PMID:15842375|PMID:16115133|PMID:16706266|PMID:16889557|PMID:16953269|PMID:16985174|PMID:17080221|PMID:17119126|PMID:17190853|PMID:18094571|PMID:18162126|PMID:18315546|PMID:18315556|PMID:1832934|PMID:18485763|PMID:18510569|PMID:18712522|PMID:18805962|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19431182|PMID:19453940|PMID:19506354|PMID:19506361|PMID:20118404|PMID:20301765|PMID:20409624|PMID:20586924|PMID:20682599|PMID:20981092|PMID:21346256|PMID:21371195|PMID:22197721|PMID:22315491|PMID:22875612|PMID:23355534|PMID:23426949|PMID:23636243|PMID:24029428|PMID:24033266|PMID:24675615|PMID:24712919|PMID:24928861|PMID:25103891|PMID:25689060|PMID:25741868|PMID:25753785|PMID:25780857|PMID:26206100|PMID:26207643|PMID:26456374|PMID:26467025|PMID:26764160|PMID:26827609|PMID:26986123|PMID:27353798|PMID:27380589|PMID:27443694|PMID:27596108|PMID:27683759|PMID:27785872|PMID:27978591|PMID:28091443|PMID:28581694|PMID:28640903|PMID:28692141|PMID:28916584|PMID:28924049|PMID:28971901|PMID:29984440|PMID:30722078|PMID:30817071|PMID:31064749|PMID:31349985|PMID:31532876|PMID:31618753|PMID:31887760|PMID:31968368|PMID:32108991|PMID:32573891|PMID:3259690|PMID:32609846|PMID:33113216|PMID:33477601|PMID:33536631|PMID:33550700|PMID:33556167|PMID:33587123|PMID:33942438|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34828413|PMID:3487353|PMID:3488775|PMID:36580664|PMID:8096943|PMID:8134377|PMID:8486782|PMID:8500791|PMID:8865544|PMID:9684781 8852667 Vwf von Willebrand factor gene DOID:2213 hemorrhagic disease ISO RGD:1347936 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10845912|PMID:11686103|PMID:11776047|PMID:12176890|PMID:12211196|PMID:12353087|PMID:1301136|PMID:1302613|PMID:15461624|PMID:15670054|PMID:1581215|PMID:16706266|PMID:16953269|PMID:16985174|PMID:17087728|PMID:17190853|PMID:17200787|PMID:17681836|PMID:18230755|PMID:18315556|PMID:1832934|PMID:18384353|PMID:18712522|PMID:18805962|PMID:1906179|PMID:1906877|PMID:1918030|PMID:19277422|PMID:19404524|PMID:19566550|PMID:19951969|PMID:2018834|PMID:20301765|PMID:20409624|PMID:20586924|PMID:20851871|PMID:20981092|PMID:2104761|PMID:21362127|PMID:21371195|PMID:21429375|PMID:22197721|PMID:22315491|PMID:22329792|PMID:22507569|PMID:22578129|PMID:22875612|PMID:23340442|PMID:23349392|PMID:23426949|PMID:23636243|PMID:23648131|PMID:23834637|PMID:24029428|PMID:24033266|PMID:24700780|PMID:24928861|PMID:25185554|PMID:25696906|PMID:25741868|PMID:26200876|PMID:26207643|PMID:26467025|PMID:26764160|PMID:26879396|PMID:26986123|PMID:26988807|PMID:27320760|PMID:27443694|PMID:27483487|PMID:28581694|PMID:28971901|PMID:29427305|PMID:29924855|PMID:30358069|PMID:31064749|PMID:31249928|PMID:31349985|PMID:31589614|PMID:32935436|PMID:33556167|PMID:34272389|PMID:34355501|PMID:34662354|PMID:34708896|PMID:35343054|PMID:36299619|PMID:7620154|PMID:7734373|PMID:7989040|PMID:8165603|PMID:8367445|PMID:8500791|PMID:8865544|PMID:9684781 8852667 Vwf von Willebrand factor gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:14717981|REF_RGD_ID:1580643 8852667 Vwf von Willebrand factor gene DOID:2224 essential thrombocythemia ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:25876231|REF_RGD_ID:11073823 8852667 Vwf von Willebrand factor gene DOID:224 transient cerebral ischemia treatment ISO RGD:621759 D RGD:9068941 20200609 RGD PMID:22771326|REF_RGD_ID:7207039 8852667 Vwf von Willebrand factor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1553644 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 8852667 Vwf von Willebrand factor gene DOID:3312 bipolar disorder ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19839997|REF_RGD_ID:7207027 8852667 Vwf von Willebrand factor gene DOID:3407 carotid artery disease ISO RGD:1347936 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:20439183|REF_RGD_ID:7207026 8852667 Vwf von Willebrand factor gene DOID:3770 pulmonary fibrosis ISO RGD:621759 D RGD:9068941 20200609 RGD associated with Radiation Injuries;protein:increased expression:lung parenchyma PMID:8811296|REF_RGD_ID:11079207 8852667 Vwf von Willebrand factor gene DOID:418 systemic scleroderma severity ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:22596213|REF_RGD_ID:7205639 8852667 Vwf von Willebrand factor gene DOID:4193 intracranial thrombosis ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3111251 8852667 Vwf von Willebrand factor gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21953673|REF_RGD_ID:7207032 8852667 Vwf von Willebrand factor gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus: PMID:10450036|REF_RGD_ID:11079208 8852667 Vwf von Willebrand factor gene DOID:5419 schizophrenia ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19839997|REF_RGD_ID:7207027 8852667 Vwf von Willebrand factor gene DOID:5844 myocardial infarction ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:19435557|REF_RGD_ID:11080745 8852667 Vwf von Willebrand factor gene DOID:6000 congestive heart failure ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 8852667 Vwf von Willebrand factor gene DOID:630 genetic disease ISO RGD:1347936 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12649144|PMID:1324533|PMID:14525793|PMID:15755288|PMID:15842375|PMID:16322474|PMID:16985174|PMID:17080221|PMID:17119126|PMID:17190853|PMID:18162126|PMID:18510569|PMID:18986390|PMID:19277422|PMID:19506354|PMID:20409624|PMID:20492463|PMID:20682599|PMID:21346256|PMID:22197721|PMID:22372972|PMID:22871923|PMID:23322777|PMID:23355534|PMID:23426949|PMID:24033266|PMID:24928861|PMID:25103891|PMID:25741868|PMID:25780857|PMID:26467025|PMID:27214365|PMID:27380589|PMID:27596108|PMID:27766062|PMID:2786201|PMID:28091443|PMID:28971901|PMID:29186156|PMID:30722078|PMID:30817071|PMID:31026269|PMID:31064749|PMID:31249928|PMID:31887760|PMID:31968368|PMID:32108991|PMID:32609846|PMID:33113216|PMID:33477601|PMID:33536631|PMID:34355501|PMID:34596727|PMID:34708896|PMID:34828413|PMID:8456431 8852667 Vwf von Willebrand factor gene DOID:6432 pulmonary hypertension ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:14507115|REF_RGD_ID:1580645 8852667 Vwf von Willebrand factor gene DOID:783 end stage renal disease ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased oxidation:plasma PMID:22091998|REF_RGD_ID:7205646 8852667 Vwf von Willebrand factor gene DOID:783 end stage renal disease disease_progression ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:22189209|REF_RGD_ID:7205641 8852667 Vwf von Willebrand factor gene DOID:783 end stage renal disease treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:21378155|REF_RGD_ID:7205649 8852667 Vwf von Willebrand factor gene DOID:8947 diabetic retinopathy ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:10077454|REF_RGD_ID:1580648 8852667 Vwf von Willebrand factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:621759 D RGD:9068941 20200609 RGD PMID:25771801|REF_RGD_ID:13673888 8852667 Vwf von Willebrand factor gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:20439183|REF_RGD_ID:7207026 8852667 Vwf von Willebrand factor gene DOID:9000326 Thrombotic Microangiopathies disease_progression ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21153061|REF_RGD_ID:7205650 8852667 Vwf von Willebrand factor gene DOID:9000528 Coronary Disease ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:11864703|REF_RGD_ID:1580647 8852667 Vwf von Willebrand factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28527913 8852667 Vwf von Willebrand factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:7531171|REF_RGD_ID:11079232 8852667 Vwf von Willebrand factor gene DOID:9001708 Hemorrhagic Shock ISO RGD:621759 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:15748447|REF_RGD_ID:10450768 8852667 Vwf von Willebrand factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347936 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8852667 Vwf von Willebrand factor gene DOID:9002395 Hypothermia ISO RGD:1553644 D RGD:9068941 20230831 RGD mRNA,protein:increased expression:spleen PMID:31237986|REF_RGD_ID:401794437 8852667 Vwf von Willebrand factor gene DOID:9002448 Thrombotic Thrombocytopenic Purpura, Acquired treatment ISO RGD:1347936 D RGD:9068941 20200609 RGD PMID:26863353|REF_RGD_ID:11079195 8852667 Vwf von Willebrand factor gene DOID:9003505 Venous Thromboembolism ISO RGD:1347936 D RGD:9068941 20200609 RGD associated with Glomerulosclerosis, Focal Segmental PMID:22295953|REF_RGD_ID:7207031 8852667 Vwf von Willebrand factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17546272|REF_RGD_ID:1625712 8852667 Vwf von Willebrand factor gene DOID:9005930 Endotoxemia ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:2650559|REF_RGD_ID:11079230 8852667 Vwf von Willebrand factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:12684225|REF_RGD_ID:11080744 8852667 Vwf von Willebrand factor gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1347936 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 8852667 Vwf von Willebrand factor gene DOID:9006646 Metabolic Syndrome ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16764036|REF_RGD_ID:1625709 8852667 Vwf von Willebrand factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28527913 8852667 Vwf von Willebrand factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:7531171|REF_RGD_ID:11079232 8852667 Vwf von Willebrand factor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:17708840|REF_RGD_ID:11079229 8852667 Vwf von Willebrand factor gene DOID:9007584 Von Willebrand Factor, Deficiency ISO RGD:1347936 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Reduced von Willebrand factor activity PMID:10669167|PMID:11756169|PMID:12043692|PMID:14613933|PMID:16870550|PMID:16889557|PMID:16925796|PMID:17080221|PMID:17190853|PMID:18230755|PMID:20351307|PMID:21346256|PMID:21711445|PMID:23647798|PMID:25741868|PMID:26467025|PMID:26917779|PMID:26986123|PMID:30349898|PMID:31064749|PMID:3257148|PMID:32581362|PMID:32803740|PMID:33556167|PMID:34355501|PMID:34532631|PMID:8456430|PMID:9253800 8852667 Vwf von Willebrand factor gene DOID:9007692 Insulin Resistance ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16631442|REF_RGD_ID:1625711 8852667 Vwf von Willebrand factor gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10365842|REF_RGD_ID:11080742 8852667 Vwf von Willebrand factor gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1347936 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8852667 Vwf von Willebrand factor gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8852667 Vwf von Willebrand factor gene DOID:9008217 Hemorrhage ISO RGD:1347936 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:16985174|PMID:18230755|PMID:18344424|PMID:19506353|PMID:22995991|PMID:25741868|PMID:26467025|PMID:31064749|PMID:33556167 8852667 Vwf von Willebrand factor gene DOID:9008752 Aortic Injuries ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:2650559|REF_RGD_ID:11079230 8852667 Vwf von Willebrand factor gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:621759 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:9790822|REF_RGD_ID:11080743 8852667 Vwf von Willebrand factor gene DOID:9351 diabetes mellitus treatment ISO RGD:1553644 D RGD:9068941 20200609 RGD PMID:19722571|REF_RGD_ID:7207029 8852667 Vwf von Willebrand factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:621759 D RGD:9068941 20200609 RGD PMID:10729383|REF_RGD_ID:13673887 8852667 Vwf von Willebrand factor gene DOID:9970 obesity ISO RGD:1347936 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:16739871|REF_RGD_ID:1625710 8852667 Vwf von Willebrand factor gene DOID:9970 obesity ISO RGD:1347936 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16631442|REF_RGD_ID:1625711 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1346483 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25741868 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:0050877 pancreatic agenesis ISO RGD:1346483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15543146|PMID:22158542|PMID:24212882 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:1346483 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:18591390|PMID:25741868|PMID:28492532 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1346483 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:2786 cerebellar disease ISO RGD:1346483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15543146|PMID:19650412 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:630 genetic disease ISO RGD:1346483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:9004915 Decreased Urinary Activity of Kallikrein ISO RGD:1346483 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Kallikrein, decreased urinary activity of PMID:25741868 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:9005970 Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis ISO RGD:1346483 D RGD:7240710 20180130 OMIM 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:9005970 Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis ISO RGD:1346483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS PMID:10507728|PMID:15543146|PMID:18591390|PMID:20065546|PMID:21749365|PMID:25741868|PMID:25775927|PMID:28492532 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346483 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21182459 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:9007770 Pancreatic Agenesis 2 ISO RGD:1346483 D RGD:7240710 20200226 OMIM 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:9007770 Pancreatic Agenesis 2 ISO RGD:1346483 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 PMID:18591390|PMID:25741868|PMID:25775927|PMID:28492532 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:9008816 Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus ISO RGD:1346483 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital absence of insulin-producing beta cells with diabetes mellitus PMID:18591390|PMID:25741868|PMID:28492532 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:9351 diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:25775927|PMID:28492532 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 8852726 Ptf1a pancreas associated transcription factor 1a gene DOID:9744 type 1 diabetes mellitus ISO RGD:1346483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:18591390|PMID:28492532 8852732 Slc30a2 solute carrier family 30 member 2 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:733874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8852732 Slc30a2 solute carrier family 30 member 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:733874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8852732 Slc30a2 solute carrier family 30 member 2 gene DOID:10283 prostate cancer ISO RGD:733874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8852732 Slc30a2 solute carrier family 30 member 2 gene DOID:630 genetic disease ISO RGD:733874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852732 Slc30a2 solute carrier family 30 member 2 gene DOID:9003336 Neonatal Zinc Deficiency due to Low Breast Milk Zinc ISO RGD:733874 D RGD:7240710 20180130 OMIM 8852732 Slc30a2 solute carrier family 30 member 2 gene DOID:9003336 Neonatal Zinc Deficiency due to Low Breast Milk Zinc ISO RGD:733874 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Zinc deficiency, transient neonatal PMID:17065149|PMID:22733820|PMID:24456035|PMID:25741868|PMID:28665435 8852745 Tor1a torsin family 1 member A gene DOID:0050836 focal dystonia ISO RGD:1615931 D RGD:9068941 20220825 MouseDO 8852745 Tor1a torsin family 1 member A gene DOID:0060730 torsion dystonia 1 ISO RGD:1345813 D RGD:7240710 20180130 OMIM 8852745 Tor1a torsin family 1 member A gene DOID:0060730 torsion dystonia 1 ISO RGD:1345813 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dystonia 1, torsion, autosomal dominant | ClinVar Annotator: match by term: Dystonia-1, torsion PMID:11523564|PMID:12391338|PMID:12391355|PMID:12402271|PMID:17503336|PMID:18477710|PMID:18519876|PMID:19955557|PMID:24033266|PMID:24930953|PMID:24931141|PMID:25741868|PMID:27168150|PMID:27477622|PMID:28492532|PMID:30244176|PMID:31321303|PMID:32243914|PMID:34008892|PMID:34298581|PMID:9288096 8852745 Tor1a torsin family 1 member A gene DOID:0070073 autosomal dominant intellectual developmental disorder 43 ISO RGD:1345813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43 PMID:25741868|PMID:30244176|PMID:34008892 8852745 Tor1a torsin family 1 member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8852745 Tor1a torsin family 1 member A gene DOID:0080981 arthrogryposis multiplex congenita-5 ISO RGD:1345813 D RGD:7240710 20200812 OMIM 8852745 Tor1a torsin family 1 member A gene DOID:0080981 arthrogryposis multiplex congenita-5 ISO RGD:1345813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 PMID:11523564|PMID:17503336|PMID:18519876|PMID:18827015|PMID:25741868|PMID:28492532|PMID:28516161|PMID:29053766|PMID:30244176|PMID:34008892|PMID:9288096 8852745 Tor1a torsin family 1 member A gene DOID:543 dystonia ISO RGD:1345813 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonia 1 | ClinVar Annotator: match by term: Dystonic disorder PMID:11523564|PMID:12391338|PMID:12391355|PMID:12402271|PMID:17503336|PMID:17576681|PMID:18477710|PMID:18519876|PMID:19955557|PMID:24033266|PMID:24930953|PMID:24931141|PMID:25741868|PMID:27168150|PMID:27477622|PMID:28166811|PMID:28492532|PMID:30244176|PMID:31321303|PMID:32243914|PMID:34008892|PMID:34298581|PMID:9288096|PMID:9536098 8852745 Tor1a torsin family 1 member A gene DOID:630 genetic disease ISO RGD:1345813 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18827015|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28516161|PMID:9536098 8852745 Tor1a torsin family 1 member A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1345813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8852745 Tor1a torsin family 1 member A gene DOID:9006836 Contracture ISO RGD:1345813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8852754 Cdc42bpa CDC42 binding protein kinase alpha gene DOID:0070241 primary coenzyme Q10 deficiency 4 ISO RGD:1351605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 PMID:24164873 8852754 Cdc42bpa CDC42 binding protein kinase alpha gene DOID:0080600 COVID-19 ISO RGD:1351605 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8852754 Cdc42bpa CDC42 binding protein kinase alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1351605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8852754 Cdc42bpa CDC42 binding protein kinase alpha gene DOID:630 genetic disease ISO RGD:1351605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852754 Cdc42bpa CDC42 binding protein kinase alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8852822 Fdx1 ferredoxin 1 gene DOID:1059 intellectual disability ISO RGD:1347130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8852822 Fdx1 ferredoxin 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1347130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8852822 Fdx1 ferredoxin 1 gene DOID:4989 pancreatitis ISO RGD:62036 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic acinar cell (rat) PMID:12709512|REF_RGD_ID:4145666 8852822 Fdx1 ferredoxin 1 gene DOID:630 genetic disease ISO RGD:1347130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852822 Fdx1 ferredoxin 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8852833 Tent4b terminal nucleotidyltransferase 4B gene DOID:0111122 nephronophthisis 14 ISO RGD:1320003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 8852833 Tent4b terminal nucleotidyltransferase 4B gene DOID:630 genetic disease ISO RGD:1320003 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852868 Tspo translocator protein gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:737564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8852868 Tspo translocator protein gene DOID:0080600 COVID-19 ISO RGD:737564 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8852868 Tspo translocator protein gene DOID:1059 intellectual disability ISO RGD:737564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8852868 Tspo translocator protein gene DOID:13413 hepatic encephalopathy ISO RGD:737564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10206825|PMID:10564534 8852868 Tspo translocator protein gene DOID:14502 cholesterol ester storage disease ISO RGD:2228 D RGD:9068941 20211008 RGD PMID:29074640|REF_RGD_ID:150429771 8852868 Tspo translocator protein gene DOID:630 genetic disease ISO RGD:737564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852868 Tspo translocator protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8852868 Tspo translocator protein gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:737564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8852868 Tspo translocator protein gene DOID:9007996 End Stage Liver Disease ISO RGD:737564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15025246 8852888 Sugct succinyl-CoA:glutarate-CoA transferase gene DOID:0112246 glutaric acidemia type 3 ISO RGD:1317700 D RGD:7240710 20190315 OMIM 8852888 Sugct succinyl-CoA:glutarate-CoA transferase gene DOID:0112246 glutaric acidemia type 3 ISO RGD:1317700 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: GA III | ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency PMID:12555941|PMID:18926513|PMID:1909402|PMID:20818383|PMID:23893049|PMID:25741868|PMID:28492532|PMID:31980526 8852888 Sugct succinyl-CoA:glutarate-CoA transferase gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1317700 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 8852888 Sugct succinyl-CoA:glutarate-CoA transferase gene DOID:1793 pancreatic cancer ISO RGD:1317700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 8852888 Sugct succinyl-CoA:glutarate-CoA transferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8852888 Sugct succinyl-CoA:glutarate-CoA transferase gene DOID:630 genetic disease ISO RGD:1317700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8852888 Sugct succinyl-CoA:glutarate-CoA transferase gene DOID:6364 migraine ISO RGD:1317700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23793025 8852888 Sugct succinyl-CoA:glutarate-CoA transferase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1317700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8852913 Stag1 STAG1 cohesin complex component gene DOID:0080238 autosomal dominant intellectual developmental disorder 47 ISO RGD:1321827 D RGD:7240710 20190315 OMIM 8852913 Stag1 STAG1 cohesin complex component gene DOID:0080238 autosomal dominant intellectual developmental disorder 47 ISO RGD:1321827 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 | ClinVar Annotator: match by term: STAG1-Related Disorders | ClinVar Annotator: match by term: STAG1-related disorder PMID:25741868|PMID:25748820|PMID:28119487|PMID:28492532|PMID:30158690|PMID:34440290 8852913 Stag1 STAG1 cohesin complex component gene DOID:1059 intellectual disability ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28119487 8852913 Stag1 STAG1 cohesin complex component gene DOID:5426 primary ovarian insufficiency ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8852913 Stag1 STAG1 cohesin complex component gene DOID:630 genetic disease ISO RGD:1321827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25748820|PMID:28119487|PMID:28492532 8852913 Stag1 STAG1 cohesin complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8852913 Stag1 STAG1 cohesin complex component gene DOID:9008086 Developmental Disabilities ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741896 8852913 Stag1 STAG1 cohesin complex component gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8852951 Rilp Rab interacting lysosomal protein gene DOID:630 genetic disease ISO RGD:1317025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852971 Hic2 HIC ZBTB transcriptional repressor 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1313307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:25741868 8852971 Hic2 HIC ZBTB transcriptional repressor 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1313307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8852971 Hic2 HIC ZBTB transcriptional repressor 2 gene DOID:11372 megacolon ISO RGD:1313307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8852971 Hic2 HIC ZBTB transcriptional repressor 2 gene DOID:12849 autistic disorder ISO RGD:1313307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8852971 Hic2 HIC ZBTB transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1313307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8852997 Cux1 cut like homeobox 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD protein:decreased activity:stomach (human) PMID:23255599|REF_RGD_ID:152985542 8852997 Cux1 cut like homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1319831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8852997 Cux1 cut like homeobox 1 gene DOID:12557 Duane retraction syndrome ISO RGD:1319831 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome PMID:25741868 8852997 Cux1 cut like homeobox 1 gene DOID:1798 pancreatic endocrine carcinoma exacerbates ISO RGD:1319831 D RGD:9068941 20220728 RGD protein:increased expression:pancreas (human) PMID:32707646|REF_RGD_ID:153297777 8852997 Cux1 cut like homeobox 1 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1319831 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:25741868 8852997 Cux1 cut like homeobox 1 gene DOID:3892 insulinoma disease_progression ISO RGD:733203 D RGD:9068941 20220609 RGD mRNA:increased expression:pancreas (mouse) PMID:25248790|REF_RGD_ID:152985543 8852997 Cux1 cut like homeobox 1 gene DOID:3892 insulinoma exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD protein:increased expression:pancreas (human) PMID:25248790|REF_RGD_ID:152985543 8852997 Cux1 cut like homeobox 1 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD mRNA:increased expression:lung (human) PMID:28405678|REF_RGD_ID:152985544 8852997 Cux1 cut like homeobox 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8852997 Cux1 cut like homeobox 1 gene DOID:630 genetic disease ISO RGD:1319831 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8852997 Cux1 cut like homeobox 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319831 D RGD:9068941 20220609 RGD mRNA:increased expression:liver (human) PMID:30561038|REF_RGD_ID:152985541 8852997 Cux1 cut like homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8852997 Cux1 cut like homeobox 1 gene DOID:9007702 Carcinogenesis ISO RGD:1319831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24316979 8852997 Cux1 cut like homeobox 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1319831 D RGD:7240710 20190710 OMIM 8852997 Cux1 cut like homeobox 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1319831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868|PMID:30014507 8852997 Cux1 cut like homeobox 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1319831 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:33014778|REF_RGD_ID:152985540 8853036 Cavin3 caveolae associated protein 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8853036 Cavin3 caveolae associated protein 3 gene DOID:630 genetic disease ISO RGD:1353748 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853049 Rhot2 ras homolog family member T2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8853049 Rhot2 ras homolog family member T2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347429 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8853049 Rhot2 ras homolog family member T2 gene DOID:1826 epilepsy ISO RGD:1347429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8853049 Rhot2 ras homolog family member T2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8853049 Rhot2 ras homolog family member T2 gene DOID:630 genetic disease ISO RGD:1347429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853073 Tmem229a transmembrane protein 229A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3102903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8853073 Tmem229a transmembrane protein 229A gene DOID:630 genetic disease ISO RGD:3102903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853081 Phf2 PHD finger protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8853081 Phf2 PHD finger protein 2 gene DOID:10283 prostate cancer ISO RGD:1313130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8853081 Phf2 PHD finger protein 2 gene DOID:12642 hiatus hernia ISO RGD:1313130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 8853081 Phf2 PHD finger protein 2 gene DOID:630 genetic disease ISO RGD:1313130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383 8853081 Phf2 PHD finger protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313130 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8853150 Gpr82 G protein-coupled receptor 82 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8853150 Gpr82 G protein-coupled receptor 82 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1354119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 8853150 Gpr82 G protein-coupled receptor 82 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1354119 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:19165920|PMID:20029458|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23901204|PMID:28492532 8853150 Gpr82 G protein-coupled receptor 82 gene DOID:10283 prostate cancer ISO RGD:1354119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8853150 Gpr82 G protein-coupled receptor 82 gene DOID:12849 autistic disorder ISO RGD:1354119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8853150 Gpr82 G protein-coupled receptor 82 gene DOID:630 genetic disease ISO RGD:1354119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853150 Gpr82 G protein-coupled receptor 82 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:731480 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:0110938 autosomal dominant osteopetrosis 2 ISO RGD:731480 D RGD:7240710 20180130 OMIM 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:0110938 autosomal dominant osteopetrosis 2 ISO RGD:731480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 PMID:11468688|PMID:11741829|PMID:14584882|PMID:15111300|PMID:1516225|PMID:16118345|PMID:17164308|PMID:17576681|PMID:19238435|PMID:19543743|PMID:19953639|PMID:20301306|PMID:21527911|PMID:21947783|PMID:21962762|PMID:23296056|PMID:23983121|PMID:25741868|PMID:26056022|PMID:26365571|PMID:28492532|PMID:29620724|PMID:30229577|PMID:30942407|PMID:31412925|PMID:32369273|PMID:32552793|PMID:32860008|PMID:9536098 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:0110944 autosomal recessive osteopetrosis 4 ISO RGD:731480 D RGD:7240710 20180130 OMIM 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:0110944 autosomal recessive osteopetrosis 4 ISO RGD:731480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2 PMID:11207362|PMID:11468688|PMID:11741829|PMID:1516225|PMID:16118345|PMID:16234969|PMID:17033731|PMID:19953639|PMID:199553639|PMID:20301306|PMID:21947783|PMID:23296056|PMID:25741868|PMID:26056022|PMID:28492532|PMID:30229577 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:13533 osteopetrosis ISO RGD:731480 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Albers-Schoenberg disease | ClinVar Annotator: match by term: Osteopetrosis PMID:11741829|PMID:14584882|PMID:15111300|PMID:16234969|PMID:17164308|PMID:19543743|PMID:20301306|PMID:21527911|PMID:21962762|PMID:23983121|PMID:25410126|PMID:25741868|PMID:26365571|PMID:28492532|PMID:29595814|PMID:30942407|PMID:31412925|PMID:32369273 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:1826 epilepsy ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:4254 osteosclerosis ISO RGD:731480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:11741829|PMID:14584882|PMID:16234969|PMID:17164308|PMID:19543743|PMID:20301306|PMID:21527911|PMID:21962762|PMID:23983121|PMID:25741868|PMID:26365571|PMID:28492532|PMID:30942407|PMID:31085352|PMID:31412925|PMID:32369273 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:630 genetic disease ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11741829|PMID:14584882|PMID:17164308|PMID:19543743|PMID:20424301|PMID:21527911|PMID:21962762|PMID:23983121|PMID:25741868|PMID:26365571|PMID:28492532|PMID:30942407|PMID:31412925|PMID:32369273 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:65 connective tissue disease ISO RGD:731480 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:8466 retinal degeneration ISO RGD:62127 D RGD:9068941 20200609 RGD PMID:11207362|REF_RGD_ID:737783 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:9000641 Pain ISO RGD:61836 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord dorsal horn PMID:11846422|REF_RGD_ID:1600865 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:9004721 HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT ISO RGD:731480 D RGD:7240710 20191009 OMIM 8853156 Clcn7 chloride voltage-gated channel 7 gene DOID:9004721 HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT ISO RGD:731480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypopigmentation, organomegaly, and delayed myelination and development PMID:25741868|PMID:28492532|PMID:31155284 8853190 Cbx3 chromobox 3 gene DOID:10283 prostate cancer ISO RGD:1352044 D RGD:9068941 20200609 RGD protein:increased expression:prostate: PMID:18436254|REF_RGD_ID:9586744 8853190 Cbx3 chromobox 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8853190 Cbx3 chromobox 3 gene DOID:630 genetic disease ISO RGD:1352044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853190 Cbx3 chromobox 3 gene DOID:9007479 Habitual Abortions ISO RGD:1352044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 8853203 Rtn4rl2 reticulon 4 receptor like 2 gene DOID:1059 intellectual disability ISO RGD:1344970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8853203 Rtn4rl2 reticulon 4 receptor like 2 gene DOID:630 genetic disease ISO RGD:1344970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1618248 D RGD:9068941 20220825 MouseDO 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1618248 D RGD:9068941 20220825 MouseDO OMIM:268310 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1346789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:0111448 progressive myoclonus epilepsy 1B ISO RGD:1346789 D RGD:7240710 20180130 OMIM 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:0111448 progressive myoclonus epilepsy 1B ISO RGD:1346789 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia PMID:17576681|PMID:18414213|PMID:18976727|PMID:20301774|PMID:21276947|PMID:21901791|PMID:24689077|PMID:25741868|PMID:26378787|PMID:26467025|PMID:28106320|PMID:28492532|PMID:29358611|PMID:29790814|PMID:30564977|PMID:31035234|PMID:31875159|PMID:32214227|PMID:35040250|PMID:9536098 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:1059 intellectual disability ISO RGD:1346789 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21901791|PMID:25741868|PMID:26467025|PMID:28106320|PMID:28492532|PMID:29358611 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:11832 visual epilepsy ISO RGD:735090 D RGD:9068941 20220728 RGD protein:increased expression:hippocampus: PMID:21905079|REF_RGD_ID:9686146 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1618248 D RGD:9068941 20220825 MouseDO OMIM:192430 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:1826 epilepsy ISO RGD:1346789 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:1826 epilepsy ISO RGD:1346789 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:2234 focal epilepsy ISO RGD:1346789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:3328 temporal lobe epilepsy treatment ISO RGD:735090 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:21905079|REF_RGD_ID:9686146 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1346789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:630 genetic disease ISO RGD:1346789 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:20301774|PMID:21901791|PMID:25741868|PMID:26467025|PMID:28106320|PMID:28492532|PMID:29358611|PMID:30564977|PMID:9536098 8853213 Prickle1 prickle planar cell polarity protein 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1346789 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: PME PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 8853230 Lrrc45 leucine rich repeat containing 45 gene DOID:630 genetic disease ISO RGD:1604206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853277 Tmigd1 transmembrane and immunoglobulin domain containing 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1604448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8853277 Tmigd1 transmembrane and immunoglobulin domain containing 1 gene DOID:630 genetic disease ISO RGD:1604448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853285 Dnph1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1603316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8853285 Dnph1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 gene DOID:630 genetic disease ISO RGD:1603316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853285 Dnph1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 gene DOID:905 Zellweger syndrome ISO RGD:1603316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8853293 Qki QKI, KH domain containing RNA binding gene DOID:3070 high grade glioma ISO RGD:1319346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26829751 8853293 Qki QKI, KH domain containing RNA binding gene DOID:3213 demyelinating disease ISO RGD:1319346 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:16245024 8853293 Qki QKI, KH domain containing RNA binding gene DOID:630 genetic disease ISO RGD:1319346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853293 Qki QKI, KH domain containing RNA binding gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1584886 D RGD:9068941 20200609 RGD PMID:22740327|REF_RGD_ID:10045997 8853318 Dpp8 dipeptidyl peptidase 8 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1322072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8853318 Dpp8 dipeptidyl peptidase 8 gene DOID:2717 Bloom syndrome ISO RGD:1322072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8853318 Dpp8 dipeptidyl peptidase 8 gene DOID:630 genetic disease ISO RGD:1322072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853318 Dpp8 dipeptidyl peptidase 8 gene DOID:9256 colorectal cancer ISO RGD:1322072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8853352 Hmgn3 high mobility group nucleosomal binding domain 3 gene DOID:630 genetic disease ISO RGD:1352330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853352 Hmgn3 high mobility group nucleosomal binding domain 3 gene DOID:9269 maple syrup urine disease ISO RGD:1352330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 8853376 Map1a microtubule associated protein 1A gene DOID:1459 hypothyroidism ISO RGD:3042 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum PMID:3252178|REF_RGD_ID:2304042 8853376 Map1a microtubule associated protein 1A gene DOID:2717 Bloom syndrome ISO RGD:736437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8853376 Map1a microtubule associated protein 1A gene DOID:630 genetic disease ISO RGD:736437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853376 Map1a microtubule associated protein 1A gene DOID:9256 colorectal cancer ISO RGD:736437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8853396 CUNH11orf87 chromosome unknown C11orf87 homolog gene DOID:1059 intellectual disability ISO RGD:1604683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8853396 CUNH11orf87 chromosome unknown C11orf87 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1604683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8853396 CUNH11orf87 chromosome unknown C11orf87 homolog gene DOID:630 genetic disease ISO RGD:1604683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853396 CUNH11orf87 chromosome unknown C11orf87 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8853412 Olfm4 olfactomedin 4 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8853412 Olfm4 olfactomedin 4 gene DOID:1059 intellectual disability ISO RGD:1323306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8853412 Olfm4 olfactomedin 4 gene DOID:289 endometriosis ISO RGD:1323306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21048224 8853412 Olfm4 olfactomedin 4 gene DOID:630 genetic disease ISO RGD:1323306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853422 Fgf20 fibroblast growth factor 20 gene DOID:0060892 late onset Parkinson's disease ISO RGD:731457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:18252210|PMID:19133659 8853422 Fgf20 fibroblast growth factor 20 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:731457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8853422 Fgf20 fibroblast growth factor 20 gene DOID:630 genetic disease ISO RGD:731457 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8853422 Fgf20 fibroblast growth factor 20 gene DOID:9005509 Renal Hypodysplasia/Aplasia 2 ISO RGD:731457 D RGD:7240710 20180130 OMIM 8853422 Fgf20 fibroblast growth factor 20 gene DOID:9005509 Renal Hypodysplasia/Aplasia 2 ISO RGD:731457 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 2 PMID:22698282|PMID:25741868|PMID:28492532 8853429 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:0050741 alcohol dependence ISO RGD:731037 D RGD:9068941 20240321 RGD DNA:SNPs, haplotype:multiple (human) PMID:24590108|REF_RGD_ID:404976878 8853429 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:0050741 alcohol dependence exacerbates ISO RGD:731037 D RGD:9068941 20240321 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:27144979|REF_RGD_ID:404976874 8853429 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:0050741 alcohol dependence susceptibility ISO RGD:731037 D RGD:9068941 20240321 RGD DNA:SNP:exon 1: (rs33940208) (human) PMID:23757001|REF_RGD_ID:404976875 8853429 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:0050741 alcohol dependence treatment ISO RGD:731037 D RGD:9068941 20240321 RGD DNA:SNPs:enhancer, exon: (rs1150226, rs1176713) (human) PMID:23897038|REF_RGD_ID:405096433 8853429 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:0050742 nicotine dependence ISO RGD:731037 D RGD:9068941 20240321 RGD DNA:SNP, haplotype:enhancer: (rs897685) (human) PMID:24590108|REF_RGD_ID:404976878 8853429 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:0050742 nicotine dependence ISO RGD:731037 D RGD:9068941 20240321 RGD DNA:SNP, haplotype:intron: (rs10160548) (human) PMID:30405098|REF_RGD_ID:405096439 8853429 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:0050742 nicotine dependence ISO RGD:731037 D RGD:9068941 20240321 RGD DNA:SNP:intron: (rs1985242) (human) PMID:35457612|REF_RGD_ID:405096438 8853429 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:0050742 nicotine dependence ISO RGD:731037 D RGD:9068941 20240321 RGD DNA:SNPs, haplotype:multiple (human) PMID:23290502|REF_RGD_ID:405096435 8853429 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:9975 cocaine dependence ISO RGD:731037 D RGD:9068941 20240321 RGD DNA:SNPs, haplotype:exon, intron: (rs1985242, rs2276302, rs4938066) (human) PMID:24590108|REF_RGD_ID:404976878 8853429 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:9975 cocaine dependence ISO RGD:731037 D RGD:9068941 20240321 RGD DSNA:SNP:intron:g.113985089A>G (rs897687) (human) PMID:26227246|REF_RGD_ID:405096480 8853429 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:9976 heroin dependence ISO RGD:731037 D RGD:9068941 20240321 RGD DNA:SNPs, haplotype:multiple (human) PMID:19500151|REF_RGD_ID:5509583 8853429 HTR3A 5-hydroxytryptamine receptor 3A gene DOID:9976 heroin dependence ISO RGD:731037 D RGD:9068941 20240321 RGD DSNA:SNPs:promoter, intron, CDS:g.113974819C>T, g.113985089A>G, g.113989703A>G (rs1150226, rs897687, rs1176713) (human) PMID:26227246|REF_RGD_ID:405096480 8853429 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:0050741 alcohol dependence ISO RGD:61818 D RGD:9068941 20240321 RGD mRNA:increased expression:prefrontal cortex (rat) PMID:25722691|REF_RGD_ID:404976876 8853429 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:1059 intellectual disability ISO RGD:731037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8853429 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:12849 autistic disorder ISO RGD:731037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19184136 8853429 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:630 genetic disease ISO RGD:731037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853429 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:670 amphetamine abuse ISO RGD:731037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 8853429 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:9001204 Dyspepsia ISO RGD:731037 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-42C>T(human) PMID:22014438|REF_RGD_ID:6480658 8853429 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8853429 Htr3a 5-hydroxytryptamine receptor 3A gene DOID:9778 irritable bowel syndrome severity ISO RGD:731037 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-42C>T(human) PMID:21420406|REF_RGD_ID:6480659 8853448 Qprt quinolinate phosphoribosyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8853448 Qprt quinolinate phosphoribosyltransferase gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1321139 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8853448 Qprt quinolinate phosphoribosyltransferase gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1321139 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8853448 Qprt quinolinate phosphoribosyltransferase gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1321139 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8853448 Qprt quinolinate phosphoribosyltransferase gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1321139 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8853448 Qprt quinolinate phosphoribosyltransferase gene DOID:12849 autistic disorder ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8853448 Qprt quinolinate phosphoribosyltransferase gene DOID:12858 Huntington's disease ISO RGD:1310309 D RGD:9068941 20200609 RGD PMID:2527078|REF_RGD_ID:13524507 8853448 Qprt quinolinate phosphoribosyltransferase gene DOID:5419 schizophrenia ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8853448 Qprt quinolinate phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1321139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853448 Qprt quinolinate phosphoribosyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8853456 Rap2b RAP2B, member of RAS oncogene family gene DOID:630 genetic disease ISO RGD:736861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:730984 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: EDS II | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE II PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:2010058|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21912751|PMID:22206639|PMID:22589248|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:34422331|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A PMID:25441681|PMID:28492532 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:730984 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:31414283|PMID:31794058|PMID:33110269|PMID:36896471|PMID:37079061|PMID:7695699|PMID:8218237|PMID:9016532 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ISO RGD:730984 D RGD:7240710 20200318 OMIM 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ISO RGD:730984 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 PMID:10976985|PMID:11288717|PMID:11317364|PMID:15077201|PMID:15172002|PMID:1556139|PMID:1577745|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:1712342|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18996919|PMID:19344236|PMID:1978725|PMID:1990839|PMID:21520333|PMID:21530898|PMID:21801164|PMID:21884818|PMID:22589248|PMID:23158907|PMID:23869235|PMID:24033266|PMID:2454224|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27011056|PMID:27056980|PMID:27519266|PMID:2777808|PMID:28017821|PMID:28346524|PMID:28492532|PMID:28725987|PMID:29150909|PMID:2985635|PMID:2993307|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30984112|PMID:31319225|PMID:31414283|PMID:31447884|PMID:32659730|PMID:33939306|PMID:34422331|PMID:3621666|PMID:3680255|PMID:3733683|PMID:4742738|PMID:6773953|PMID:7695699|PMID:7860070|PMID:7864655|PMID:8081389|PMID:8094076|PMID:8218237|PMID:8456808|PMID:9016532|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:730984 D RGD:7240710 20180130 OMIM 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:730984 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type PMID:15077201|PMID:16705691|PMID:16786509|PMID:16816023|PMID:17078022|PMID:17576681|PMID:19344236|PMID:21520333|PMID:22589248|PMID:25326637|PMID:25441681|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27519266|PMID:28492532|PMID:29150909|PMID:3049731|PMID:30821104|PMID:31414283|PMID:31794058|PMID:32659730|PMID:33110269|PMID:3383844|PMID:36896471|PMID:37079061|PMID:7695699|PMID:7860070|PMID:8094076|PMID:8218237|PMID:9016532|PMID:9272740|PMID:9295084|PMID:9536098|PMID:9594376 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0090034 myoclonic dystonia 11 ISO RGD:730984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:12821748|PMID:15389977|PMID:17853490|PMID:23677909|PMID:24297365|PMID:28492532 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:730984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth PMID:10027910|PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:1642148|PMID:16705691|PMID:16786509|PMID:16816023|PMID:16879195|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19344236|PMID:19594296|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23158907|PMID:23227268|PMID:23443412|PMID:23548243|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24342908|PMID:24501682|PMID:2454224|PMID:24668929|PMID:25146735|PMID:25289482|PMID:25326637|PMID:25441681|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:26788535|PMID:27011056|PMID:27056980|PMID:27264419|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2777808|PMID:2824475|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29656858|PMID:29669177|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30311386|PMID:30715774|PMID:30886339|PMID:31039433|PMID:31141158|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32770541|PMID:33070251|PMID:3372533|PMID:3680255|PMID:458828|PMID:4742738|PMID:6092353|PMID:6773953|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8081389|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9099837|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:730984 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth PMID:10027910|PMID:10408781|PMID:10627137|PMID:10807697|PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:1634225|PMID:1642148|PMID:16705691|PMID:16786509|PMID:16816023|PMID:16879195|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18798308|PMID:18996919|PMID:19208385|PMID:19317096|PMID:19344236|PMID:19594296|PMID:1978725|PMID:1990009|PMID:2010058|PMID:2052622|PMID:21239989|PMID:21344539|PMID:21488231|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23158907|PMID:23227268|PMID:23443412|PMID:23548243|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24296239|PMID:24342908|PMID:24501682|PMID:2454224|PMID:24668929|PMID:24863959|PMID:25086671|PMID:25146735|PMID:25289482|PMID:25326637|PMID:25436829|PMID:25441681|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25858481|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26551090|PMID:26604951|PMID:26627451|PMID:26788535|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27264419|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:27761249|PMID:2777808|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29620724|PMID:29656858|PMID:29669177|PMID:29807018|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30311386|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31566912|PMID:31737030|PMID:31794058|PMID:31829210|PMID:32123938|PMID:32659730|PMID:32667677|PMID:32770541|PMID:32920552|PMID:33070251|PMID:33110269|PMID:3372533|PMID:33939306|PMID:33942288|PMID:34306033|PMID:34422331|PMID:35052464|PMID:35723357|PMID:35855989|PMID:35909573|PMID:36140746|PMID:3680255|PMID:36896471|PMID:37079061|PMID:37270749|PMID:458828|PMID:4742738|PMID:6092353|PMID:6773953|PMID:7695699|PMID:7860070|PMID:7891382|PMID:7959683|PMID:8005592|PMID:8071956|PMID:8081389|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8456807|PMID:8456808|PMID:8800927|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9099837|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:730984 D RGD:7240710 20180130 OMIM 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:730984 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:10807697|PMID:15241796|PMID:16705691|PMID:16786509|PMID:17078022|PMID:19208385|PMID:19344236|PMID:2052622|PMID:2064612|PMID:21488294|PMID:21520333|PMID:21667357|PMID:22206639|PMID:22589248|PMID:23934635|PMID:24033266|PMID:24501682|PMID:24668929|PMID:24863959|PMID:25326635|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:26627451|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2824475|PMID:28492532|PMID:28498836|PMID:28810924|PMID:29150909|PMID:3023615|PMID:30715774|PMID:30821104|PMID:31447884|PMID:31794058|PMID:32659730|PMID:32770541|PMID:3995789|PMID:6092353|PMID:7695699|PMID:7749416|PMID:7860070|PMID:7881420|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8728690|PMID:8829649|PMID:9016532|PMID:9099837|PMID:9143923|PMID:9272740|PMID:9594376 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:730984 D RGD:7240710 20180130 OMIM 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:730984 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:19344236|PMID:20301472|PMID:2064612|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:22206639|PMID:22589248|PMID:23227268|PMID:23934635|PMID:24033266|PMID:24501682|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28492532|PMID:28498836|PMID:28810924|PMID:2897363|PMID:29150909|PMID:29595812|PMID:29669177|PMID:30152103|PMID:30715774|PMID:30821104|PMID:30886339|PMID:32659730|PMID:32667677|PMID:7695699|PMID:7860070|PMID:7881420|PMID:8094076|PMID:8218237|PMID:8456807|PMID:8786065|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9143923|PMID:9240878|PMID:9268111|PMID:9272740|PMID:9536098|PMID:9594376 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:730984 D RGD:7240710 20180130 OMIM 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:730984 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta PMID:10027910|PMID:11288717|PMID:11317364|PMID:12362985|PMID:1301191|PMID:1385413|PMID:15077201|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:1711048|PMID:17576681|PMID:1874719|PMID:18996919|PMID:19344236|PMID:21488294|PMID:21520333|PMID:21667357|PMID:21829228|PMID:22206639|PMID:22589248|PMID:22753364|PMID:24033266|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:26627451|PMID:26938784|PMID:27509835|PMID:27519266|PMID:27748872|PMID:2777764|PMID:2839839|PMID:28492532|PMID:2914942|PMID:29150909|PMID:2952379|PMID:29656858|PMID:30715774|PMID:30821104|PMID:32659730|PMID:3372533|PMID:3383844|PMID:6191221|PMID:7695699|PMID:7860070|PMID:7959683|PMID:8094076|PMID:8218237|PMID:8482361|PMID:8829649|PMID:9016532|PMID:9272740|PMID:9536098|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:10941 intracranial aneurysm ISO RGD:730984 D RGD:9068941 20200609 RGD PMID:14739420|REF_RGD_ID:1581199 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:11476 osteoporosis ISO RGD:730984 D RGD:7240710 20180130 OMIM 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:11476 osteoporosis ISO RGD:730984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:15172002|PMID:16705691|PMID:16786509|PMID:17078022|PMID:18028452|PMID:19344236|PMID:1978725|PMID:21520333|PMID:22589248|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27011056|PMID:27519266|PMID:28017821|PMID:28492532|PMID:29150909|PMID:2985635|PMID:30283887|PMID:30821104|PMID:32659730|PMID:7695699|PMID:7860070|PMID:8094076|PMID:8218237|PMID:9016532|PMID:9272740|PMID:9399846|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16705691|PMID:16816023|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26432670|PMID:26467025|PMID:26604951|PMID:27056980|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2824475|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28810924|PMID:28916840|PMID:29595812|PMID:29656858|PMID:2985635|PMID:2993307|PMID:30152103|PMID:30886339|PMID:31039433|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3372533|PMID:3403536|PMID:458828|PMID:6092353|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:27056980|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2824475|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28810924|PMID:28916840|PMID:29595812|PMID:29656858|PMID:2985635|PMID:30152103|PMID:30886339|PMID:31039433|PMID:31141158|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3403536|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3403536|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:21344539|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3403536|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:20301472|PMID:21344539|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32920552|PMID:3403536|PMID:34422331|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:20301472|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32920552|PMID:3403536|PMID:34422331|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:20301472|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24863959|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:3023615|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32920552|PMID:3403536|PMID:34422331|PMID:36896471|PMID:3995789|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:730984 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta with blue sclerae | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild PMID:10976985|PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:1990009|PMID:2010058|PMID:20301472|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21530898|PMID:21667357|PMID:21801164|PMID:21884818|PMID:21912751|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23692737|PMID:23869235|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24863959|PMID:25146735|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25742658|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28396251|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29225276|PMID:29595812|PMID:29656858|PMID:2985635|PMID:29947050|PMID:30152103|PMID:3023615|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31737030|PMID:31794058|PMID:32659730|PMID:32667677|PMID:32920552|PMID:33110269|PMID:33939306|PMID:3403536|PMID:34098919|PMID:34422331|PMID:36896471|PMID:37079061|PMID:37270749|PMID:3995789|PMID:458828|PMID:7695699|PMID:7860070|PMID:8071956|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:730984 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11288717|PMID:15077201|PMID:1577745|PMID:16199547|PMID:1634225|PMID:16786509|PMID:17078022|PMID:1712342|PMID:17576681|PMID:18996919|PMID:19344236|PMID:1990839|PMID:21520333|PMID:21801164|PMID:24033266|PMID:25741868|PMID:25944380|PMID:26402641|PMID:26467025|PMID:27056980|PMID:28346524|PMID:28492532|PMID:3049731|PMID:31039433|PMID:31794058|PMID:3383844|PMID:3621666|PMID:36896471|PMID:3733683|PMID:7695699|PMID:7864655|PMID:8218237|PMID:9016532|PMID:9272740|PMID:9295084|PMID:9536098 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:14323 Marfan syndrome ISO RGD:730984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome, atypical PMID:15172002|PMID:18028452|PMID:1978725|PMID:25741868|PMID:26264438|PMID:26432670|PMID:27011056|PMID:28017821|PMID:28492532|PMID:2985635|PMID:30283887|PMID:9399846|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:1459 hypothyroidism ISO RGD:621351 D RGD:9068941 20200609 RGD mRNA:increased expression:heart ventricle PMID:8745212|REF_RGD_ID:7257542 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10027910|PMID:11288717|PMID:11317364|PMID:11359465|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16816023|PMID:16879195|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18311573|PMID:18996919|PMID:19344236|PMID:19594296|PMID:1978725|PMID:1990009|PMID:2052622|PMID:21520333|PMID:21667357|PMID:22206639|PMID:22589248|PMID:22753364|PMID:23227268|PMID:23548243|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24342908|PMID:24501682|PMID:2454224|PMID:24668929|PMID:25146735|PMID:25289482|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26551090|PMID:26604951|PMID:26627451|PMID:27056980|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2777808|PMID:2824475|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28810924|PMID:29595812|PMID:29620724|PMID:29656858|PMID:29807018|PMID:2985635|PMID:2993307|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30886339|PMID:31039433|PMID:31363794|PMID:31414283|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3372533|PMID:3680255|PMID:4742738|PMID:6092353|PMID:6773953|PMID:7693712|PMID:7695699|PMID:7749416|PMID:7860070|PMID:7891382|PMID:8081389|PMID:8081394|PMID:8094076|PMID:8218237|PMID:8829649|PMID:9016532|PMID:9099837|PMID:9240878|PMID:9272740|PMID:9399846|PMID:9536098|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:730984 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16816023|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:2010058|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21912751|PMID:22206639|PMID:22589248|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:3372533|PMID:34422331|PMID:458828|PMID:6092353|PMID:7695699|PMID:7749416|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:730984 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:11288717|PMID:11317364|PMID:11836364|PMID:15077201|PMID:15172002|PMID:15241796|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16816023|PMID:17078022|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18996919|PMID:19317096|PMID:19344236|PMID:1978725|PMID:2010058|PMID:21344539|PMID:21488275|PMID:21488294|PMID:21520333|PMID:21667357|PMID:21801164|PMID:21912751|PMID:22206639|PMID:22589248|PMID:23227268|PMID:23692737|PMID:23934635|PMID:24033266|PMID:24140640|PMID:24501682|PMID:24668929|PMID:25326637|PMID:25450603|PMID:25633413|PMID:25741868|PMID:25835785|PMID:25944380|PMID:26138843|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26471105|PMID:26604951|PMID:26627451|PMID:27011056|PMID:27056980|PMID:27090748|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28017821|PMID:2824475|PMID:28346524|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28625337|PMID:28725987|PMID:28810924|PMID:28916840|PMID:29150909|PMID:29595812|PMID:2985635|PMID:2993307|PMID:29947050|PMID:30152103|PMID:30283887|PMID:30715774|PMID:30821104|PMID:30886339|PMID:30984112|PMID:31039433|PMID:31141158|PMID:31414283|PMID:31566912|PMID:31794058|PMID:32659730|PMID:32667677|PMID:33110269|PMID:3372533|PMID:34422331|PMID:36896471|PMID:37079061|PMID:37270749|PMID:458828|PMID:6092353|PMID:7695699|PMID:7749416|PMID:7860070|PMID:8071956|PMID:8094076|PMID:8218237|PMID:8456808|PMID:8829649|PMID:8829655|PMID:9016532|PMID:9240878|PMID:9272740|PMID:9295084|PMID:9399846|PMID:9536098|PMID:9557891|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:2256 osteochondrodysplasia ISO RGD:730984 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:17078022|PMID:19344236|PMID:25741868|PMID:27519266|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:3770 pulmonary fibrosis ISO RGD:621351 D RGD:9068941 20200609 RGD PMID:7511187|REF_RGD_ID:7257543 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:4079 heart valve disease ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15077201 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:4079 heart valve disease ISO RGD:730984 D RGD:9068941 20200609 RGD PMID:15077201|PMID:16816023|REF_RGD_ID:1581196|REF_RGD_ID:1581198 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:4154 dentinogenesis imperfecta ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dentinogenesis imperfecta PMID:16705691|PMID:17078022|PMID:19344236|PMID:23227268|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26788535|PMID:27510842|PMID:28492532|PMID:30152103|PMID:30715774|PMID:30886339|PMID:31429852|PMID:7695699|PMID:8218237|PMID:9016532 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:418 systemic scleroderma ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24706986 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:5082 liver cirrhosis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:5199 ureteral obstruction ISO RGD:621351 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20660018|REF_RGD_ID:5688341 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:5773 oral submucous fibrosis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:630 genetic disease ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10027910|PMID:11288717|PMID:11317364|PMID:15077201|PMID:16199547|PMID:17078022|PMID:18996919|PMID:19344236|PMID:2010058|PMID:21344539|PMID:21667357|PMID:21801164|PMID:21912751|PMID:24140640|PMID:24668929|PMID:25741868|PMID:25944380|PMID:2824475|PMID:28492532|PMID:28625337|PMID:28916840|PMID:458828|PMID:7695699|PMID:8071956|PMID:8218237|PMID:9016532|PMID:9268111|PMID:9295084|PMID:9557891 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:730984 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15172002|PMID:17576681|PMID:18028452|PMID:1978725|PMID:25741868|PMID:25944380|PMID:26264438|PMID:26432670|PMID:26467025|PMID:27011056|PMID:27056980|PMID:28017821|PMID:28492532|PMID:2985635|PMID:30283887|PMID:31363794|PMID:9399846|PMID:9536098|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:767 muscular atrophy ISO RGD:621351 D RGD:9068941 20200609 RGD PMID:17916675|REF_RGD_ID:7257536 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:8398 osteoarthritis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9000784 Fibrosis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388698 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:730984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Predisposition to dissection PMID:25741868|PMID:28492532 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621351 D RGD:9068941 20200609 RGD PMID:7512265|REF_RGD_ID:7257544 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:730984 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:730984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9004283 Transplant Rejection ISO RGD:730984 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20150539|REF_RGD_ID:7248773 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9004590 Acute Liver Failure ISO RGD:621351 D RGD:9068941 20200609 RGD PMID:11786959|REF_RGD_ID:7257539 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:621351 D RGD:9068941 20230202 RGD associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) PMID:23977013|REF_RGD_ID:155882570 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:1463018|PMID:15172002|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:18028452|PMID:19344236|PMID:1978725|PMID:2052622|PMID:21520333|PMID:22589248|PMID:22753364|PMID:25326637|PMID:25450603|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26264438|PMID:26307460|PMID:26432670|PMID:26604951|PMID:27011056|PMID:27519266|PMID:28017821|PMID:28492532|PMID:2985635|PMID:30283887|PMID:32659730|PMID:7695699|PMID:7860070|PMID:8094076|PMID:8218237|PMID:8786074|PMID:9016532|PMID:9272740|PMID:9399846|PMID:9594376|PMID:9923651 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9005950 Orthostatic Hypotension ISO RGD:730984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orthostatic hypotension 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9007227 Bruck Syndrome 1 ISO RGD:730984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bruck syndrome 1 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9007779 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 ISO RGD:730984 D RGD:7240710 20201223 OMIM 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9007779 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 ISO RGD:730984 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2 PMID:10027910|PMID:10694924|PMID:10982177|PMID:11288717|PMID:11317364|PMID:16705691|PMID:17078022|PMID:17576681|PMID:18311573|PMID:18996919|PMID:19344236|PMID:21520333|PMID:21667357|PMID:22589248|PMID:23692737|PMID:25146735|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26371943|PMID:26432670|PMID:26467025|PMID:27510842|PMID:28378289|PMID:28492532|PMID:29150909|PMID:30715774|PMID:30821104|PMID:31794058|PMID:34422331|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098 8853461 Col1a2 collagen type I alpha 2 chain gene DOID:9008086 Developmental Disabilities ISO RGD:730984 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532|PMID:30311386 8853528 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8853528 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0060586 Noonan syndrome 8 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 8853528 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0111940 immunodeficiency 42 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8853528 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8853528 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8853528 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:1540 parathyroid carcinoma ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8853528 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:5812 MHC class II deficiency ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8853528 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1605086 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853528 Khdc4 KH domain containing 4, pre-mRNA splicing factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11528500|PMID:16272259|PMID:23105016|PMID:25741868|PMID:28492532|PMID:30072743 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:0050795 cone dystrophy ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:28492532 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1321922 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:11283794|PMID:11528500|PMID:12920076|PMID:16123401|PMID:16199547|PMID:16374347|PMID:17576681|PMID:20301475|PMID:21224891|PMID:21857984|PMID:22277662|PMID:23105016|PMID:25741868|PMID:27884173|PMID:28041643|PMID:28492532|PMID:30576320|PMID:32865313|PMID:36909829|PMID:9536098 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1321922 D RGD:7240710 20180130 OMIM 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:0110329 Leber congenital amaurosis 6 ISO RGD:1321922 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:11283794|PMID:11528500|PMID:12920076|PMID:14971589|PMID:15024725|PMID:15800011|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16339905|PMID:16374347|PMID:17576681|PMID:17964524|PMID:18055816|PMID:20079931|PMID:20301475|PMID:21153841|PMID:21224891|PMID:21602930|PMID:21857984|PMID:22025579|PMID:22277662|PMID:23105016|PMID:23213406|PMID:23505306|PMID:23776498|PMID:23847139|PMID:24123792|PMID:24265693|PMID:24516651|PMID:24997176|PMID:25097241|PMID:25412400|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26667666|PMID:26764160|PMID:26893459|PMID:27353947|PMID:27884173|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28559085|PMID:28679690|PMID:28714225|PMID:28838317|PMID:29178642|PMID:29844330|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30718709|PMID:31429209|PMID:31630094|PMID:31736247|PMID:31816670|PMID:32165824|PMID:32531858|PMID:32860008|PMID:32865313|PMID:33670832|PMID:36909829|PMID:9536098 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:0111002 Joubert syndrome 7 ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1321922 D RGD:7240710 20180130 OMIM 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1321922 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11283794|PMID:11528500|PMID:12920076|PMID:14971589|PMID:15024725|PMID:15800011|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16339905|PMID:16374347|PMID:17525851|PMID:17576681|PMID:17964524|PMID:18055816|PMID:18682808|PMID:20079931|PMID:20301475|PMID:21153841|PMID:21224891|PMID:21602930|PMID:21857984|PMID:22025579|PMID:22261762|PMID:22277662|PMID:23105016|PMID:23213406|PMID:23505306|PMID:23661368|PMID:23776498|PMID:23847139|PMID:24123792|PMID:24265693|PMID:24997176|PMID:25097241|PMID:25326637|PMID:25412400|PMID:25445212|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26667666|PMID:26764160|PMID:26872967|PMID:26893459|PMID:26992781|PMID:27208204|PMID:27353947|PMID:27422788|PMID:27884173|PMID:28041643|PMID:28157192|PMID:28378820|PMID:28453600|PMID:28456785|PMID:28492532|PMID:28559085|PMID:28679690|PMID:28714225|PMID:28838317|PMID:29178642|PMID:29343940|PMID:29754767|PMID:29844330|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30902645|PMID:31429209|PMID:31456290|PMID:31630094|PMID:31736247|PMID:32581362|PMID:32860008|PMID:32865313|PMID:33670832|PMID:34722527|PMID:36909829|PMID:9536098 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1321922 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11528500|PMID:23105016|PMID:24516651|PMID:25741868|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:29178642|PMID:30072743|PMID:31456290|PMID:31816670|PMID:32531858|PMID:34722527|PMID:34906470|PMID:36909829 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:10907 microcephaly ISO RGD:1321922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321922 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:11283794|PMID:11528500|PMID:16199547|PMID:16272259|PMID:20065226|PMID:20079931|PMID:21602930|PMID:23105016|PMID:24123792|PMID:24516651|PMID:24997176|PMID:25741868|PMID:26047050|PMID:27422788|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28714225|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30718709|PMID:31630094|PMID:31816670|PMID:32165824|PMID:32531858|PMID:32581362|PMID:32860008|PMID:33670832|PMID:36909829 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1321922 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:11283794|PMID:11528500|PMID:16199547|PMID:16272259|PMID:20065226|PMID:20079931|PMID:21602930|PMID:23105016|PMID:24123792|PMID:24516651|PMID:24997176|PMID:25741868|PMID:26047050|PMID:27422788|PMID:28041643|PMID:28181551|PMID:28456785|PMID:28492532|PMID:28714225|PMID:30072743|PMID:30202406|PMID:30576320|PMID:30718709|PMID:31630094|PMID:31816670|PMID:32165824|PMID:32531858|PMID:32581362|PMID:32860008|PMID:33308271|PMID:33670832|PMID:36909829 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321922 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1321922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:630 genetic disease ISO RGD:1321922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1321922 D RGD:9068941 20200609 RGD PMID:11283794|REF_RGD_ID:1599580 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1321922 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11528500|PMID:15024725|PMID:16199547|PMID:23105016|PMID:25445212|PMID:25741868|PMID:26047050|PMID:27208204|PMID:28492532|PMID:28559085|PMID:28714225|PMID:30072743|PMID:30576320|PMID:31429209 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:9000343 Vision Disorders ISO RGD:1321922 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:11528500|PMID:25741868 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321922 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1321922 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:24123792|PMID:26047050|PMID:27422788|PMID:28041643|PMID:28492532|PMID:32581362 8853554 Rpgrip1 RPGR interacting protein 1 gene DOID:9650 pathologic nystagmus ISO RGD:1321922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11283794 8853582 Pdhx pyruvate dehydrogenase complex component X gene DOID:1059 intellectual disability ISO RGD:1352009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8853582 Pdhx pyruvate dehydrogenase complex component X gene DOID:1115 sarcoma treatment ISO RGD:1352009 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 8853582 Pdhx pyruvate dehydrogenase complex component X gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1352009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency 8853582 Pdhx pyruvate dehydrogenase complex component X gene DOID:630 genetic disease ISO RGD:1352009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8853582 Pdhx pyruvate dehydrogenase complex component X gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1352009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:25741868|PMID:28492532 8853582 Pdhx pyruvate dehydrogenase complex component X gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1352009 D RGD:7240710 20190315 OMIM 8853582 Pdhx pyruvate dehydrogenase complex component X gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1352009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency PMID:11935326|PMID:12557299|PMID:16566017|PMID:16904023|PMID:17152059|PMID:21914562|PMID:21937992|PMID:25087164|PMID:25326635|PMID:25741868|PMID:28492532|PMID:8229524|PMID:8584393|PMID:9399911|PMID:9467010 8853612 Aak1 AP2 associated kinase 1 gene DOID:0050591 tooth agenesis ISO RGD:1313595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 8853612 Aak1 AP2 associated kinase 1 gene DOID:630 genetic disease ISO RGD:1313595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853652 Wee2 WEE2 oocyte meiosis inhibiting kinase gene DOID:0080690 RASopathy ISO RGD:1352233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8853652 Wee2 WEE2 oocyte meiosis inhibiting kinase gene DOID:630 genetic disease ISO RGD:1352233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853652 Wee2 WEE2 oocyte meiosis inhibiting kinase gene DOID:9009251 Oocyte Maturation Defect 5 ISO RGD:1352233 D RGD:7240710 20190315 OMIM 8853652 Wee2 WEE2 oocyte meiosis inhibiting kinase gene DOID:9009251 Oocyte Maturation Defect 5 ISO RGD:1352233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 5 PMID:29606300|PMID:30628060 8853668 Trappc6b trafficking protein particle complex subunit 6B gene DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy ISO RGD:1319611 D RGD:7240710 20190315 OMIM 8853668 Trappc6b trafficking protein particle complex subunit 6B gene DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy ISO RGD:1319611 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | ClinVar Annotator: match by term: TRAPPC6B-related neurodevelopmental disorder PMID:25741868|PMID:25954003|PMID:27618451|PMID:28397838|PMID:28490743|PMID:28492532|PMID:28626029|PMID:31687267|PMID:32860008|PMID:35887114 8853668 Trappc6b trafficking protein particle complex subunit 6B gene DOID:630 genetic disease ISO RGD:1319611 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28397838|PMID:28490743|PMID:28492532|PMID:28626029|PMID:31687267 8853668 Trappc6b trafficking protein particle complex subunit 6B gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319611 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8853686 Synj1 synaptojanin 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:69491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8853686 Synj1 synaptojanin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:69491 D RGD:7240710 20180130 OMIM 8853686 Synj1 synaptojanin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:69491 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:11413010|PMID:16199547|PMID:17576681|PMID:23804563|PMID:23804577|PMID:24609975|PMID:24816432|PMID:25316601|PMID:25741868|PMID:26046367|PMID:26467025|PMID:27393345|PMID:27435091|PMID:27496670|PMID:27869329|PMID:28135719|PMID:28421333|PMID:28492532|PMID:29163333|PMID:31440721|PMID:32707456|PMID:9536098 8853686 Synj1 synaptojanin 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:69491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8853686 Synj1 synaptojanin 1 gene DOID:0080464 developmental and epileptic encephalopathy 53 ISO RGD:69491 D RGD:7240710 20190315 OMIM 8853686 Synj1 synaptojanin 1 gene DOID:0080464 developmental and epileptic encephalopathy 53 ISO RGD:69491 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 53 PMID:23804563|PMID:23804577|PMID:24816432|PMID:25741868|PMID:26467025|PMID:27435091|PMID:27869329|PMID:28421333|PMID:28492532|PMID:32214227 8853686 Synj1 synaptojanin 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:69491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 8853686 Synj1 synaptojanin 1 gene DOID:14330 Parkinson's disease ISO RGD:69491 D RGD:9068941 20200609 RGD PMID:25639775|REF_RGD_ID:10450521 8853686 Synj1 synaptojanin 1 gene DOID:630 genetic disease ISO RGD:69491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11413010|PMID:25741868|PMID:26467025|PMID:27435091|PMID:28421333|PMID:28492532 8853686 Synj1 synaptojanin 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:69491 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:0050440 familial partial lipodystrophy ISO RGD:732407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19793595 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732407 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15166380|PMID:17327441|PMID:17576681|PMID:19164855|PMID:21479466|PMID:25157968|PMID:25741868|PMID:28166811|PMID:28341696|PMID:28492532|PMID:32041611|PMID:9536098 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy ISO RGD:732407 D RGD:7240710 20180130 OMIM 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy | ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy PMID:21979934|PMID:25741868|PMID:28166811|PMID:28492532 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:10283 prostate cancer ISO RGD:732407 D RGD:9068941 20200609 RGD DNA:SNP: :rs7254617 (human) PMID:22815832|REF_RGD_ID:13504675 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:10286 prostate carcinoma treatment ISO RGD:732407 D RGD:9068941 20200609 RGD PMID:24838891|REF_RGD_ID:13504674 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:10763 hypertension ISO RGD:2082 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:12902546|REF_RGD_ID:2313350 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:10132 D RGD:9068941 20220825 MouseDO OMIM:184700 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:1380 endometrial cancer severity ISO RGD:732407 D RGD:9068941 20200609 RGD DNA:snp:intron:c.287+993G>A (rs892119) (human) PMID:22146979|REF_RGD_ID:13432140 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:2340 craniosynostosis ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732407 D RGD:9068941 20200609 RGD PMID:20638364|REF_RGD_ID:13504677 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:299 adenocarcinoma ISO RGD:732407 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:3069 malignant astrocytoma severity ISO RGD:732407 D RGD:9068941 20200609 RGD PMID:20167810|REF_RGD_ID:13674163 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:3070 high grade glioma ISO RGD:2082 D RGD:9068941 20200609 RGD PMID:19330838|REF_RGD_ID:2313297 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:3070 high grade glioma ISO RGD:732407 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm (human) PMID:19330838|REF_RGD_ID:2313297 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:326 ischemia ISO RGD:2082 D RGD:9068941 20200609 RGD PMID:19084003|REF_RGD_ID:2313316 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:21479466|PMID:25157968|PMID:28492532 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:4001 ovarian carcinoma ISO RGD:732407 D RGD:9068941 20200609 RGD DNA:amplification (human) PMID:16721043|REF_RGD_ID:2315603 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:732407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17327441|PMID:17576681|PMID:28341696|PMID:28492532|PMID:9536098 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:10132 D RGD:9068941 20210702 RGD protein:increased phosphorylation:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:2082 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver cancer cell (rat) PMID:19309364|REF_RGD_ID:2313299 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732407 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:19491266|REF_RGD_ID:2315599 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732407 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:10132 D RGD:9068941 20200609 RGD PMID:21743498|REF_RGD_ID:13504676 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10132 D RGD:9068941 20200609 RGD PMID:17210696|REF_RGD_ID:2315600 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9006009 Neonatal Hypoglycemia, Simulating Foetopathia Diabetica ISO RGD:732407 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypoglycemia, neonatal, simulating foetopathia diabetica PMID:25741868|PMID:28492532 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9007692 Insulin Resistance no_association ISO RGD:732407 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17327441|REF_RGD_ID:1601155 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2082 D RGD:9068941 20200609 RGD PMID:16418318|REF_RGD_ID:2313347 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:16094359|PMID:25157968 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9256 colorectal cancer onset ISO RGD:2082 D RGD:9068941 20200609 RGD protein:increased expression:colon (rat) PMID:11756242|REF_RGD_ID:2313394 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9256 colorectal cancer onset ISO RGD:732407 D RGD:9068941 20200609 RGD protein:increased expression:colon (human) PMID:11756242|REF_RGD_ID:2313394 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9269 maple syrup urine disease ISO RGD:732407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:7240710 20180130 OMIM 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15166380|PMID:17327441|PMID:17576681|PMID:19164855|PMID:25741868|PMID:28166811|PMID:28341696|PMID:28492532|PMID:9536098 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732407 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15166380|PMID:17327441|PMID:17576681|PMID:19164855|PMID:21479466|PMID:25157968|PMID:25741868|PMID:28166811|PMID:28341696|PMID:28492532|PMID:32041611|PMID:9536098 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9970 obesity ISO RGD:10132 D RGD:9068941 20200609 RGD PMID:17923673|REF_RGD_ID:2313406 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9970 obesity ISO RGD:2082 D RGD:9068941 20200609 RGD protein:decreased expression:plantaris (rat) PMID:18508911|REF_RGD_ID:2313320 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9970 obesity ISO RGD:732407 D RGD:9068941 20200609 RGD protein:decreased activity:rectus abdominis (human) PMID:12663464|REF_RGD_ID:2313409 8853723 Akt2 AKT serine/threonine kinase 2 gene DOID:9993 hypoglycemia ISO RGD:732407 D RGD:9068941 20200609 RGD PMID:21979934|REF_RGD_ID:7248543 8853750 Clip4 CAP-Gly domain containing linker protein family member 4 gene DOID:630 genetic disease ISO RGD:1350068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853750 Clip4 CAP-Gly domain containing linker protein family member 4 gene DOID:9009095 Neuroblastoma 3 ISO RGD:1350068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 8853779 Ddx6 DEAD-box helicase 6 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8853779 Ddx6 DEAD-box helicase 6 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1349712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8853779 Ddx6 DEAD-box helicase 6 gene DOID:0080690 RASopathy ISO RGD:1349712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8853779 Ddx6 DEAD-box helicase 6 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8853779 Ddx6 DEAD-box helicase 6 gene DOID:0110651 long QT syndrome 10 ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8853779 Ddx6 DEAD-box helicase 6 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8853779 Ddx6 DEAD-box helicase 6 gene DOID:0111971 immunodeficiency 18 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8853779 Ddx6 DEAD-box helicase 6 gene DOID:0111972 immunodeficiency 19 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8853779 Ddx6 DEAD-box helicase 6 gene DOID:0111973 immunodeficiency 17 ISO RGD:1349712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8853779 Ddx6 DEAD-box helicase 6 gene DOID:3307 teratoma ISO RGD:1349712 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8853779 Ddx6 DEAD-box helicase 6 gene DOID:630 genetic disease ISO RGD:1349712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853779 Ddx6 DEAD-box helicase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1349712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8853779 Ddx6 DEAD-box helicase 6 gene DOID:9001091 INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES ISO RGD:1349712 D RGD:7240710 20200115 OMIM 8853779 Ddx6 DEAD-box helicase 6 gene DOID:9001091 INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with impaired language and dysmorphic facies PMID:25741868|PMID:31422817 8853779 Ddx6 DEAD-box helicase 6 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8853779 Ddx6 DEAD-box helicase 6 gene DOID:9007661 Dwarfism ISO RGD:1349712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8853797 Sgf29 SAGA complex associated factor 29 gene DOID:0060041 autism spectrum disorder ISO RGD:1604249 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8853797 Sgf29 SAGA complex associated factor 29 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8853797 Sgf29 SAGA complex associated factor 29 gene DOID:5419 schizophrenia ISO RGD:1604249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8853797 Sgf29 SAGA complex associated factor 29 gene DOID:630 genetic disease ISO RGD:1604249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853797 Sgf29 SAGA complex associated factor 29 gene DOID:8947 diabetic retinopathy severity ISO RGD:1604249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; DNA:SNP:intron: rs10521145(human) PMID:21441570|REF_RGD_ID:9587455 8853797 Sgf29 SAGA complex associated factor 29 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8853816 Naaladl1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8853816 Naaladl1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:1059 intellectual disability ISO RGD:732561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8853816 Naaladl1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8853816 Naaladl1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:2746 glycogen storage disease V ISO RGD:732561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8853816 Naaladl1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:3070 high grade glioma ISO RGD:732561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8853816 Naaladl1 N-acetylated alpha-linked acidic dipeptidase like 1 gene DOID:630 genetic disease ISO RGD:732561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853842 Zfand4 zinc finger AN1-type containing 4 gene DOID:630 genetic disease ISO RGD:1347960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853880 CUNH11orf91 chromosome unknown C11orf91 homolog gene DOID:1059 intellectual disability ISO RGD:2301118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8853880 CUNH11orf91 chromosome unknown C11orf91 homolog gene DOID:630 genetic disease ISO RGD:2301118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853886 Ints7 integrator complex subunit 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1604023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8853886 Ints7 integrator complex subunit 7 gene DOID:630 genetic disease ISO RGD:1604023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853886 Ints7 integrator complex subunit 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8853927 Clstn2 calsyntenin 2 gene DOID:630 genetic disease ISO RGD:1350123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8853927 Clstn2 calsyntenin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1350123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8853961 Txk TXK tyrosine kinase gene DOID:630 genetic disease ISO RGD:1315122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854013 Ttbk2 tau tubulin kinase 2 gene DOID:0050952 spastic ataxia ISO RGD:1347811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 8854013 Ttbk2 tau tubulin kinase 2 gene DOID:0050961 spinocerebellar ataxia type 11 ISO RGD:1347811 D RGD:7240710 20180130 OMIM 8854013 Ttbk2 tau tubulin kinase 2 gene DOID:0050961 spinocerebellar ataxia type 11 ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 PMID:18037885|PMID:19533200|PMID:20301723|PMID:22073189|PMID:24808823|PMID:25741868|PMID:26063658|PMID:26467025|PMID:27744525|PMID:28492532 8854013 Ttbk2 tau tubulin kinase 2 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 8854013 Ttbk2 tau tubulin kinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8854013 Ttbk2 tau tubulin kinase 2 gene DOID:630 genetic disease ISO RGD:1347811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8854013 Ttbk2 tau tubulin kinase 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1347811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18037885 8854013 Ttbk2 tau tubulin kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1347811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8854048 Rab5b RAB5B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1315136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854048 Rab5b RAB5B, member RAS oncogene family gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:1315136 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RAB5B-associated surfactant dysfunction disorder PMID:25741868|PMID:35121658 8854057 Sptb spectrin beta, erythrocytic gene DOID:0110917 hereditary spherocytosis type 2 ISO RGD:1349727 D RGD:7240710 20180130 OMIM 8854057 Sptb spectrin beta, erythrocytic gene DOID:0110917 hereditary spherocytosis type 2 ISO RGD:1349727 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition PMID:11703334|PMID:1391962|PMID:1498324|PMID:17576681|PMID:19538529|PMID:25525159|PMID:25741868|PMID:26830532|PMID:27292444|PMID:28102861|PMID:28492532|PMID:29572776|PMID:29758562|PMID:30198572|PMID:30486584|PMID:31122244|PMID:31126250|PMID:31602632|PMID:31807509|PMID:32436265|PMID:32641076|PMID:33074480|PMID:6426236|PMID:7883966|PMID:8018926|PMID:8667615|PMID:8844207|PMID:9536098|PMID:9714702 8854057 Sptb spectrin beta, erythrocytic gene DOID:11244 neonatal anemia ISO RGD:1349727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9005995 8854057 Sptb spectrin beta, erythrocytic gene DOID:12971 hereditary spherocytosis ISO RGD:1349727 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant PMID:19538529|PMID:25741868|PMID:28492532|PMID:29396846|PMID:34201899 8854057 Sptb spectrin beta, erythrocytic gene DOID:2373 hereditary elliptocytosis ISO RGD:1349727 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Elliptocytosis PMID:19538529|PMID:25741868|PMID:28492532|PMID:29396846|PMID:34201899 8854057 Sptb spectrin beta, erythrocytic gene DOID:583 hemolytic anemia ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868 8854057 Sptb spectrin beta, erythrocytic gene DOID:589 congenital hemolytic anemia ISO RGD:1349727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 8854057 Sptb spectrin beta, erythrocytic gene DOID:630 genetic disease ISO RGD:1349727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8854057 Sptb spectrin beta, erythrocytic gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1349727 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary PMID:25741868|PMID:28492532 8854057 Sptb spectrin beta, erythrocytic gene DOID:9003801 Elliptocytosis 3 ISO RGD:1349727 D RGD:7240710 20190315 OMIM 8854057 Sptb spectrin beta, erythrocytic gene DOID:9003801 Elliptocytosis 3 ISO RGD:1349727 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL | ClinVar Annotator: match by term: Elliptocytosis 3 PMID:25741868|PMID:28492532|PMID:29396846|PMID:30198572|PMID:34201899|PMID:7883966|PMID:8667615|PMID:8844207 8854107 Rgl1 ral guanine nucleotide dissociation stimulator like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1319015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8854107 Rgl1 ral guanine nucleotide dissociation stimulator like 1 gene DOID:630 genetic disease ISO RGD:1319015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854107 Rgl1 ral guanine nucleotide dissociation stimulator like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8854175 Ptprr protein tyrosine phosphatase receptor type R gene DOID:630 genetic disease ISO RGD:1348456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854196 Gosr1 golgi SNAP receptor complex member 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737606 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8854196 Gosr1 golgi SNAP receptor complex member 1 gene DOID:630 genetic disease ISO RGD:737606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854232 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8854232 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8854232 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:4621 holoprosencephaly ISO RGD:1315001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8854232 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:630 genetic disease ISO RGD:1315001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854232 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8854232 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:9000382 Myopia 27 ISO RGD:1315001 D RGD:7240710 20200408 OMIM 8854232 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:9000382 Myopia 27 ISO RGD:1315001 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myopia 27 PMID:25741868|PMID:28492532|PMID:30689892 8854232 Cpsf1 cleavage and polyadenylation specific factor 1 gene DOID:9000918 Disease Progression ISO RGD:1315001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8854279 Fam110c family with sequence similarity 110 member C gene DOID:630 genetic disease ISO RGD:1606851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854285 Fam199x family with sequence similarity 199, X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8854285 Fam199x family with sequence similarity 199, X-linked gene DOID:12849 autistic disorder ISO RGD:1348985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8854285 Fam199x family with sequence similarity 199, X-linked gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1348985 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 8854285 Fam199x family with sequence similarity 199, X-linked gene DOID:630 genetic disease ISO RGD:1348985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854298 Mroh6 maestro heat like repeat family member 6 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1603139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8854298 Mroh6 maestro heat like repeat family member 6 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1603139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8854298 Mroh6 maestro heat like repeat family member 6 gene DOID:1059 intellectual disability ISO RGD:1603139 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 8854298 Mroh6 maestro heat like repeat family member 6 gene DOID:4621 holoprosencephaly ISO RGD:1603139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8854298 Mroh6 maestro heat like repeat family member 6 gene DOID:630 genetic disease ISO RGD:1603139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854321 Cap1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1349457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8854321 Cap1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:11476 osteoporosis ISO RGD:1349457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8854321 Cap1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1349457 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:19188911|REF_RGD_ID:2326238 8854321 Cap1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:630 genetic disease ISO RGD:1349457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854321 Cap1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349457 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms; mRNA, protein:increased expression:pancreas PMID:19188911|REF_RGD_ID:2326238 8854321 Cap1 cyclase associated actin cytoskeleton regulatory protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8854344 Fgf21 fibroblast growth factor 21 gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1344631 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles PMID:25741868 8854344 Fgf21 fibroblast growth factor 21 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26797127|PMID:29289645 8854344 Fgf21 fibroblast growth factor 21 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 8854344 Fgf21 fibroblast growth factor 21 gene DOID:10763 hypertension ISO RGD:1344631 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:29706566 8854344 Fgf21 fibroblast growth factor 21 gene DOID:178 vascular disease ISO RGD:1344631 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:29706566 8854344 Fgf21 fibroblast growth factor 21 gene DOID:1936 atherosclerosis ISO RGD:1344631 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum: PMID:26047614|REF_RGD_ID:10401919 8854344 Fgf21 fibroblast growth factor 21 gene DOID:3525 middle cerebral artery infarction ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 8854344 Fgf21 fibroblast growth factor 21 gene DOID:630 genetic disease ISO RGD:1344631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854344 Fgf21 fibroblast growth factor 21 gene DOID:784 chronic kidney disease ISO RGD:1344631 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22494291|REF_RGD_ID:10401925 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344631 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:25625802|REF_RGD_ID:10401920 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9003936 Cardiomegaly ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:23771152|REF_RGD_ID:10401893 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23499715 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620175 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:23262585|REF_RGD_ID:10401916 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732404 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:23262585|REF_RGD_ID:10401916 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:25359298|REF_RGD_ID:10401921 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9006263 Experimental Pancreatitis ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:19664632|REF_RGD_ID:10401870 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:1344631 D RGD:9068941 20200609 RGD PMID:19664632|REF_RGD_ID:10401870 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:25306889|REF_RGD_ID:10401890 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1344631 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23887638|REF_RGD_ID:10401924 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:620175 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:29883717|REF_RGD_ID:15045603 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26797127 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:732404 D RGD:9068941 20200609 RGD PMID:21293445|REF_RGD_ID:10401914 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9452 steatotic liver disease ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24184811 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9452 steatotic liver disease severity ISO RGD:1344631 D RGD:9068941 20200609 RGD PMID:32195457|REF_RGD_ID:25330354 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23499715 8854344 Fgf21 fibroblast growth factor 21 gene DOID:9970 obesity ISO RGD:1344631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24184811|PMID:26797127 8854352 Slitrk6 SLIT and NTRK like family member 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8854352 Slitrk6 SLIT and NTRK like family member 6 gene DOID:0111628 high myopia-sensorineural deafness syndrome ISO RGD:1315229 D RGD:7240710 20180130 OMIM 8854352 Slitrk6 SLIT and NTRK like family member 6 gene DOID:0111628 high myopia-sensorineural deafness syndrome ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome PMID:23543054|PMID:23946138|PMID:24033266|PMID:25363768|PMID:25741868|PMID:28407358|PMID:28492532|PMID:30311386 8854352 Slitrk6 SLIT and NTRK like family member 6 gene DOID:10003 sensorineural hearing loss ISO RGD:1315230 D RGD:9068941 20220825 MouseDO OMIM:304400 8854352 Slitrk6 SLIT and NTRK like family member 6 gene DOID:3007 breast ductal carcinoma ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8854352 Slitrk6 SLIT and NTRK like family member 6 gene DOID:630 genetic disease ISO RGD:1315229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 8854352 Slitrk6 SLIT and NTRK like family member 6 gene DOID:9004538 Hearing Loss ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 8854352 Slitrk6 SLIT and NTRK like family member 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1315229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741897 8854386 Myo3a myosin IIIA gene DOID:0050563 nonsyndromic deafness ISO RGD:1349635 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:25741868|PMID:29880844|PMID:34788109 8854386 Myo3a myosin IIIA gene DOID:0110489 autosomal recessive nonsyndromic deafness 30 ISO RGD:1349635 D RGD:7240710 20180130 OMIM 8854386 Myo3a myosin IIIA gene DOID:0110489 autosomal recessive nonsyndromic deafness 30 ISO RGD:1349635 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 30 | ClinVar Annotator: match by term: MYO3A-related condition PMID:12032315|PMID:17344846|PMID:17576681|PMID:21165622|PMID:23967202|PMID:23990876|PMID:24033266|PMID:24214986|PMID:25741868|PMID:26166082|PMID:26467025|PMID:26841241|PMID:27068579|PMID:28492532|PMID:30245029|PMID:30311386|PMID:32006683|PMID:32519820|PMID:32747562|PMID:9536098 8854386 Myo3a myosin IIIA gene DOID:10003 sensorineural hearing loss ISO RGD:1349635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12032315|PMID:23990876|PMID:25741868|PMID:28492532|PMID:32006683|PMID:32747562 8854386 Myo3a myosin IIIA gene DOID:630 genetic disease ISO RGD:1349635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 8854386 Myo3a myosin IIIA gene DOID:9004538 Hearing Loss ISO RGD:1349635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 8854386 Myo3a myosin IIIA gene DOID:9005157 Autosomal Dominant Nonsyndromic Deafness 90 ISO RGD:1349635 D RGD:7240710 20240221 OMIM 8854386 Myo3a myosin IIIA gene DOID:9006380 Bilateral Hearing Loss ISO RGD:1349635 D RGD:9068941 20200609 RGD DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X PMID:12032315|REF_RGD_ID:1600555 8854386 Myo3a myosin IIIA gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349635 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss PMID:25741868|PMID:29880844|PMID:34788109 8854423 Poldip2 DNA polymerase delta interacting protein 2 gene DOID:11574 streptococcal meningitis treatment ISO RGD:1315968 D RGD:9068941 20210326 RGD PMID:32790044|REF_RGD_ID:124713556 8854423 Poldip2 DNA polymerase delta interacting protein 2 gene DOID:9002514 Neointima ISO RGD:1315968 D RGD:9068941 20210326 RGD PMID:30237457|REF_RGD_ID:124713557 8854438 Scara3 scavenger receptor class A member 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1319520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8854438 Scara3 scavenger receptor class A member 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1319520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8854438 Scara3 scavenger receptor class A member 3 gene DOID:630 genetic disease ISO RGD:1319520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854456 Trh thyrotropin releasing hormone gene DOID:0111947 immunodeficiency 21 ISO RGD:69154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8854456 Trh thyrotropin releasing hormone gene DOID:10763 hypertension ISO RGD:3903 D RGD:9068941 20200609 RGD protein:decreased expression:diencephalon PMID:17227965|REF_RGD_ID:1600406 8854456 Trh thyrotropin releasing hormone gene DOID:10763 hypertension ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8854456 Trh thyrotropin releasing hormone gene DOID:10914 amnestic disorder ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7562510|PMID:7617693|PMID:8405091 8854456 Trh thyrotropin releasing hormone gene DOID:11162 respiratory failure ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1305443|PMID:1833029 8854456 Trh thyrotropin releasing hormone gene DOID:1459 hypothyroidism ISO RGD:3903 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus, neuron PMID:16926379|REF_RGD_ID:1600414 8854456 Trh thyrotropin releasing hormone gene DOID:2303 stereotypic movement disorder ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8736133 8854456 Trh thyrotropin releasing hormone gene DOID:289 endometriosis ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8854456 Trh thyrotropin releasing hormone gene DOID:630 genetic disease ISO RGD:69154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854456 Trh thyrotropin releasing hormone gene DOID:8927 learning disability ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8405091 8854456 Trh thyrotropin releasing hormone gene DOID:8986 narcolepsy ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2845442 8854456 Trh thyrotropin releasing hormone gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6813757 8854456 Trh thyrotropin releasing hormone gene DOID:9000495 Tremor ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:103733|PMID:416961 8854456 Trh thyrotropin releasing hormone gene DOID:9000641 Pain ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6409194 8854456 Trh thyrotropin releasing hormone gene DOID:9002395 Hypothermia ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8854456 Trh thyrotropin releasing hormone gene DOID:9002554 Tachycardia ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8854456 Trh thyrotropin releasing hormone gene DOID:9003416 Post-Head Injury Coma ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8690305 8854456 Trh thyrotropin releasing hormone gene DOID:9003805 Catalepsy ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2547386 8854456 Trh thyrotropin releasing hormone gene DOID:9006315 Stupor ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:416961|PMID:8690305 8854456 Trh thyrotropin releasing hormone gene DOID:9006335 Thyrotropin-Releasing Hormone Deficiency ISO RGD:69154 D RGD:7240710 20180130 OMIM 8854456 Trh thyrotropin releasing hormone gene DOID:9006335 Thyrotropin-Releasing Hormone Deficiency ISO RGD:69154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothalamic hypothyroidism PMID:25741868 8854456 Trh thyrotropin releasing hormone gene DOID:9007001 Bradycardia ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6350720|PMID:6813757 8854456 Trh thyrotropin releasing hormone gene DOID:9007650 Unconsciousness ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6281507 8854456 Trh thyrotropin releasing hormone gene DOID:9008086 Developmental Disabilities ISO RGD:69154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8854456 Trh thyrotropin releasing hormone gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:69154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8854456 Trh thyrotropin releasing hormone gene DOID:9119 acute myeloid leukemia ISO RGD:69154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 8854456 Trh thyrotropin releasing hormone gene DOID:9270 alkaptonuria ISO RGD:69154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1349768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:10652 Alzheimer's disease ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:15621212|REF_RGD_ID:5688745 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:10652 Alzheimer's disease ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA:SNP:cds: rs7483 (human) PMID:18423940|REF_RGD_ID:5688729 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:12849 autistic disorder ISO RGD:1349768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:1485 cystic fibrosis ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:15115915|REF_RGD_ID:5135040 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:10680782|REF_RGD_ID:5490267 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:2596 larynx cancer ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:10067818|REF_RGD_ID:5135043 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:2841 asthma ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:17550934|REF_RGD_ID:5135038 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:2841 asthma ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:11470996|REF_RGD_ID:5135039 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:3070 high grade glioma ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA: deletion: intron 6 PMID:16598069|REF_RGD_ID:5688743 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:3347 osteosarcoma ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:20577141|REF_RGD_ID:5135042 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:3565 meningioma ISO RGD:1349768 D RGD:9068941 20200609 RGD DNA: deletion: intron 6 PMID:16598069|REF_RGD_ID:5688743 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:4448 macular degeneration ISO RGD:1349768 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pigmented layer of retina (human) PMID:22410570|REF_RGD_ID:12792247 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:630 genetic disease ISO RGD:1349768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:9001341 Chloracne ISO RGD:1349768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14968442 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349768 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25743375 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 8854463 Gstm3 glutathione S-transferase mu 3 gene DOID:9675 pulmonary emphysema ISO RGD:1349768 D RGD:9068941 20200609 RGD PMID:19723343|REF_RGD_ID:5135041 8854478 Ucma upper zone of growth plate and cartilage matrix associated gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8854478 Ucma upper zone of growth plate and cartilage matrix associated gene DOID:10126 keratoconus ISO RGD:1350104 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Keratoconus 8854478 Ucma upper zone of growth plate and cartilage matrix associated gene DOID:12849 autistic disorder ISO RGD:1350104 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism 8854478 Ucma upper zone of growth plate and cartilage matrix associated gene DOID:630 genetic disease ISO RGD:1350104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854497 Ska3 spindle and kinetochore associated complex subunit 3 gene DOID:630 genetic disease ISO RGD:1316254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854497 Ska3 spindle and kinetochore associated complex subunit 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1316254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8854509 Trim17 tripartite motif containing 17 gene DOID:1540 parathyroid carcinoma ISO RGD:736909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8854509 Trim17 tripartite motif containing 17 gene DOID:630 genetic disease ISO RGD:736909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854509 Trim17 tripartite motif containing 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8854523 Scp2 sterol carrier protein 2 gene DOID:10003 sensorineural hearing loss ISO RGD:733061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:33713422 8854523 Scp2 sterol carrier protein 2 gene DOID:10579 leukodystrophy ISO RGD:733061 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868 8854523 Scp2 sterol carrier protein 2 gene DOID:1389 polyneuropathy ISO RGD:733061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685654 8854523 Scp2 sterol carrier protein 2 gene DOID:543 dystonia ISO RGD:733061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685654 8854523 Scp2 sterol carrier protein 2 gene DOID:630 genetic disease ISO RGD:733061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8854523 Scp2 sterol carrier protein 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:733061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685654 8854523 Scp2 sterol carrier protein 2 gene DOID:9004065 Leukoencephalopathy with Dystonia and Motor Neuropathy ISO RGD:733061 D RGD:7240710 20180130 OMIM 8854523 Scp2 sterol carrier protein 2 gene DOID:9004065 Leukoencephalopathy with Dystonia and Motor Neuropathy ISO RGD:733061 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SCP2-related condition | ClinVar Annotator: match by term: Sterol carrier protein 2 deficiency PMID:16199547|PMID:16685654|PMID:25741868|PMID:26497993|PMID:28492532|PMID:33098801|PMID:35872528 8854523 Scp2 sterol carrier protein 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3642 D RGD:9068941 20200609 RGD PMID:7628371|REF_RGD_ID:9850252 8854523 Scp2 sterol carrier protein 2 gene DOID:905 Zellweger syndrome ISO RGD:733061 D RGD:9068941 20200609 RGD PMID:3555624|REF_RGD_ID:13782196 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:0070288 primary autosomal recessive microcephaly 17 ISO RGD:731048 D RGD:7240710 20190315 OMIM 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:0070288 primary autosomal recessive microcephaly 17 ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive PMID:25741868|PMID:27453578|PMID:27453579|PMID:27503289|PMID:27519304|PMID:28492532 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:27453579|PMID:27503289 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:0080600 COVID-19 ISO RGD:731048 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:1059 intellectual disability ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:10907 microcephaly ISO RGD:70878 D RGD:9068941 20200609 RGD PMID:10219263|REF_RGD_ID:13204836 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:11832 visual epilepsy ISO RGD:70878 D RGD:9068941 20200609 RGD PMID:10219263|REF_RGD_ID:13204836 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:11832 visual epilepsy ISO RGD:731049 D RGD:9068941 20200609 RGD PMID:11086988|REF_RGD_ID:734780 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:1826 epilepsy ISO RGD:70878 D RGD:9068941 20201211 RGD PMID:10219263|REF_RGD_ID:13204836 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:2843 long QT syndrome ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:630 genetic disease ISO RGD:731048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27453579|PMID:28492532 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:9004866 Ataxia ISO RGD:731049 D RGD:9068941 20200609 RGD PMID:11086988|REF_RGD_ID:734780 8854546 Cit citron rho-interacting serine/threonine kinase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8854610 Bean1 brain expressed associated with NEDD4 1 gene DOID:0050980 spinocerebellar ataxia type 31 ISO RGD:4144982 D RGD:7240710 20190315 OMIM 8854610 Bean1 brain expressed associated with NEDD4 1 gene DOID:0050980 spinocerebellar ataxia type 31 ISO RGD:4144982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 PMID:19878914 8854610 Bean1 brain expressed associated with NEDD4 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:4144982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8854610 Bean1 brain expressed associated with NEDD4 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:4144982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8854610 Bean1 brain expressed associated with NEDD4 1 gene DOID:630 genetic disease ISO RGD:4144982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854618 Wasl WASP like actin nucleation promoting factor gene DOID:3310 atopic dermatitis ISO RGD:1553011 D RGD:9068941 20220825 MouseDO OMIM:603165 8854618 Wasl WASP like actin nucleation promoting factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8854618 Wasl WASP like actin nucleation promoting factor gene DOID:630 genetic disease ISO RGD:1347655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854618 Wasl WASP like actin nucleation promoting factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8854654 Pmm2 phosphomannomutase 2 gene DOID:0050570 congenital disorder of glycosylation type I ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type I PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 8854654 Pmm2 phosphomannomutase 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1319677 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 8854654 Pmm2 phosphomannomutase 2 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1319677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 8854654 Pmm2 phosphomannomutase 2 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:10386614|PMID:10527672|PMID:10571956|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11156536|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16376131|PMID:16540464|PMID:16825284|PMID:17166182|PMID:17451957|PMID:18948042|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 8854654 Pmm2 phosphomannomutase 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1319677 D RGD:7240710 20180130 OMIM 8854654 Pmm2 phosphomannomutase 2 gene DOID:0080552 congenital disorder of glycosylation Ia ISO RGD:1319677 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia | ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation | ClinVar Annotator: match by term: Phosphomannomutase 2 deficiency PMID:10066032|PMID:10386614|PMID:10392743|PMID:10527672|PMID:10571009|PMID:10571956|PMID:10602363|PMID:10700701|PMID:10801058|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11058896|PMID:11134235|PMID:11148191|PMID:11156536|PMID:11350185|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11715002|PMID:11875054|PMID:11891694|PMID:11916319|PMID:12244009|PMID:12297897|PMID:12357336|PMID:12529711|PMID:12607543|PMID:12626389|PMID:12705494|PMID:12905014|PMID:13129599|PMID:15272470|PMID:15277997|PMID:15520415|PMID:15645285|PMID:15714316|PMID:15844218|PMID:16085795|PMID:16199547|PMID:16376131|PMID:16435227|PMID:16540464|PMID:16825284|PMID:16941129|PMID:17158594|PMID:17166182|PMID:17186415|PMID:17307006|PMID:17308246|PMID:17451957|PMID:17576681|PMID:17920054|PMID:18093857|PMID:18203160|PMID:18485644|PMID:18571450|PMID:18629883|PMID:18948042|PMID:19101518|PMID:19165618|PMID:19168813|PMID:19235233|PMID:19357119|PMID:19396570|PMID:19862844|PMID:20301289|PMID:20638314|PMID:21228398|PMID:21541725|PMID:21937992|PMID:21949237|PMID:22012410|PMID:22223895|PMID:22649348|PMID:22801829|PMID:22814378|PMID:22975760|PMID:23045520|PMID:23430838|PMID:23430905|PMID:23430927|PMID:23757202|PMID:23806237|PMID:23988505|PMID:24033266|PMID:24037084|PMID:24139637|PMID:24493206|PMID:24498599|PMID:24739649|PMID:25167861|PMID:25192236|PMID:25326635|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25525159|PMID:25640679|PMID:25681648|PMID:25741868|PMID:26014514|PMID:26206375|PMID:26425584|PMID:26488408|PMID:26502900|PMID:26629787|PMID:26633542|PMID:26805780|PMID:26887550|PMID:27053713|PMID:27231023|PMID:27415628|PMID:28122681|PMID:28139241|PMID:28373276|PMID:28425223|PMID:28454995|PMID:28492532|PMID:28566178|PMID:28807751|PMID:28820871|PMID:28915903|PMID:28940310|PMID:28954837|PMID:29361989|PMID:29470411|PMID:29701302|PMID:30061496|PMID:30397276|PMID:30406445|PMID:30530630|PMID:30687093|PMID:30740725|PMID:30991241|PMID:31115488|PMID:31117816|PMID:31391289|PMID:31474318|PMID:31902100|PMID:31980526|PMID:32457805|PMID:32581362|PMID:32635232|PMID:32860008|PMID:32874916|PMID:33101984|PMID:33176815|PMID:33209585|PMID:33340551|PMID:33413482|PMID:33532864|PMID:33583911|PMID:33643843|PMID:33960646|PMID:34132027|PMID:34277356|PMID:34420056|PMID:34440401|PMID:34652821|PMID:34859900|PMID:35281664|PMID:35789514|PMID:9140401|PMID:9497260|PMID:9536098|PMID:9710598|PMID:9781039 8854654 Pmm2 phosphomannomutase 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1319677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8854654 Pmm2 phosphomannomutase 2 gene DOID:1059 intellectual disability ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10527672|PMID:10801058|PMID:11156536|PMID:11589167|PMID:11891694|PMID:12705494|PMID:15714316|PMID:15844218|PMID:16199547|PMID:18948042|PMID:19862844|PMID:20301289|PMID:21541725|PMID:23430838|PMID:23806237|PMID:23988505|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28139241|PMID:28492532|PMID:9140401 8854654 Pmm2 phosphomannomutase 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8854654 Pmm2 phosphomannomutase 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 8854654 Pmm2 phosphomannomutase 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:15844218|PMID:25355454|PMID:25497157|PMID:25741868|PMID:28492532|PMID:32635232|PMID:9140401 8854654 Pmm2 phosphomannomutase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8854654 Pmm2 phosphomannomutase 2 gene DOID:630 genetic disease ISO RGD:1319677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10801058|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11156536|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11715002|PMID:11891694|PMID:11916319|PMID:12244009|PMID:15645285|PMID:15714316|PMID:15844218|PMID:16435227|PMID:16540464|PMID:17166182|PMID:17186415|PMID:17451957|PMID:17920054|PMID:18203160|PMID:19357119|PMID:19862844|PMID:20301289|PMID:21228398|PMID:21541725|PMID:21949237|PMID:22012410|PMID:22975760|PMID:23430838|PMID:23430905|PMID:23988505|PMID:24033266|PMID:24498599|PMID:25326635|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:26206375|PMID:26488408|PMID:27053713|PMID:27415628|PMID:28122681|PMID:28139241|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28566178|PMID:28940310|PMID:28954837|PMID:30740725|PMID:31117816|PMID:31474318|PMID:32581362|PMID:32635232|PMID:32860008|PMID:33413482|PMID:33532864|PMID:9140401|PMID:9497260|PMID:9781039 8854654 Pmm2 phosphomannomutase 2 gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:1319677 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hao-Fountain syndrome 8854654 Pmm2 phosphomannomutase 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1319677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8854654 Pmm2 phosphomannomutase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8854654 Pmm2 phosphomannomutase 2 gene DOID:9351 diabetes mellitus ISO RGD:1319677 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10386614|PMID:10527672|PMID:10602363|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24033266|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28492532|PMID:28940310|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039 8854689 Tbx1 T-box transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8854689 Tbx1 T-box transcription factor 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1317100 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8854689 Tbx1 T-box transcription factor 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1317100 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8854689 Tbx1 T-box transcription factor 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1317100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8854689 Tbx1 T-box transcription factor 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) PMID:32110744|REF_RGD_ID:155641234 8854689 Tbx1 T-box transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8854689 Tbx1 T-box transcription factor 1 gene DOID:10754 otitis media ISO RGD:1317101 D RGD:9068941 20220825 MouseDO OMIM:166760 8854689 Tbx1 T-box transcription factor 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1317100 D RGD:7240710 20180130 OMIM 8854689 Tbx1 T-box transcription factor 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1317100 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Catch22 | ClinVar Annotator: match by term: DiGeorge Syndrome | ClinVar Annotator: match by term: DiGeorge sequence | ClinVar Annotator: match by term: DiGeorge syndrome | ClinVar Annotator: match by term: Familial third and fourth pharyngeal pouch syndrome PMID:11239417|PMID:11242049|PMID:11748311|PMID:14585638|PMID:15060116|PMID:15355425|PMID:15703190|PMID:16199547|PMID:17273972|PMID:17576681|PMID:18375573|PMID:19948535|PMID:20937753|PMID:21921585|PMID:24033266|PMID:24637876|PMID:24826987|PMID:24998776|PMID:25205790|PMID:25516202|PMID:25741868|PMID:25860641|PMID:26467025|PMID:26805781|PMID:26805782|PMID:27879657|PMID:28272434|PMID:28492532|PMID:29250159|PMID:29500247|PMID:30007050|PMID:30245509|PMID:30773290|PMID:31690835|PMID:32045288|PMID:32110744|PMID:32185379|PMID:32581362|PMID:33995479|PMID:34374102|PMID:9536098 8854689 Tbx1 T-box transcription factor 1 gene DOID:11199 hypoparathyroidism ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) PMID:32110744|REF_RGD_ID:155641234 8854689 Tbx1 T-box transcription factor 1 gene DOID:11372 megacolon ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8854689 Tbx1 T-box transcription factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1317100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8854689 Tbx1 T-box transcription factor 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317100 D RGD:7240710 20180418 OMIM 8854689 Tbx1 T-box transcription factor 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317100 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:11748311|PMID:15355425|PMID:16684884|PMID:17273972|PMID:18375573|PMID:25741868|PMID:25860641|PMID:28492532|PMID:29250159|PMID:29500247|PMID:33995479 8854689 Tbx1 T-box transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8854689 Tbx1 T-box transcription factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8854689 Tbx1 T-box transcription factor 1 gene DOID:13994 cleidocranial dysplasia ISO RGD:1317101 D RGD:9068941 20221103 RGD PMID:25209980|REF_RGD_ID:155641242 8854689 Tbx1 T-box transcription factor 1 gene DOID:14780 KBG syndrome ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KBG syndrome 8854689 Tbx1 T-box transcription factor 1 gene DOID:1657 ventricular septal defect ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:SNP:promoter:g.4199C>T (human) PMID:22801995|REF_RGD_ID:155631302 8854689 Tbx1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17000704 8854689 Tbx1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:nonsense mutation:CDS:p.Q277X (human) PMID:25860641|REF_RGD_ID:11342394 8854689 Tbx1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20221103 RGD mRNA, protein:decreased expression:blood (human) PMID:29568912|REF_RGD_ID:155631308 8854689 Tbx1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20221110 RGD DNA:SNPs:intron 1: (rs5748417, rs5748418) (human) PMID:22185286|REF_RGD_ID:155663347 8854689 Tbx1 T-box transcription factor 1 gene DOID:1682 congenital heart disease ISO RGD:1317100 D RGD:9068941 20221110 RGD DNA:missense mutation:CDS:p.P190Q (human) PMID:29596833|REF_RGD_ID:155663346 8854689 Tbx1 T-box transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1317100 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532|PMID:30773290 8854689 Tbx1 T-box transcription factor 1 gene DOID:2213 hemorrhagic disease ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8854689 Tbx1 T-box transcription factor 1 gene DOID:3021 acute kidney failure ISO RGD:1307734 D RGD:9068941 20230128 RGD mRNA:increased expression:kidney (rat) PMID:24817956|REF_RGD_ID:155882498 8854689 Tbx1 T-box transcription factor 1 gene DOID:5419 schizophrenia ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8854689 Tbx1 T-box transcription factor 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8854689 Tbx1 T-box transcription factor 1 gene DOID:630 genetic disease ISO RGD:1317100 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8854689 Tbx1 T-box transcription factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1317100 D RGD:7240710 20180130 OMIM 8854689 Tbx1 T-box transcription factor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1317100 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:11748311|PMID:15355425|PMID:18375573|PMID:19948535|PMID:24998776|PMID:25741868|PMID:28272434|PMID:28492532|PMID:29250159|PMID:29500247|PMID:33995479 8854689 Tbx1 T-box transcription factor 1 gene DOID:674 cleft palate ISO RGD:1317101 D RGD:9068941 20221103 RGD PMID:25556186|PMID:30121012|REF_RGD_ID:155631306|REF_RGD_ID:155641231 8854689 Tbx1 T-box transcription factor 1 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:1317101 D RGD:9068941 20221111 RGD PMID:16452092|REF_RGD_ID:155663362 8854689 Tbx1 T-box transcription factor 1 gene DOID:9002156 Takao VCF Syndrome ISO RGD:1317100 D RGD:8554872 20220913 ClinVar ClinVar Annotator: match by term: Conotruncal anomaly face syndrome PMID:14585638|PMID:15703190|PMID:17273972 8854689 Tbx1 T-box transcription factor 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1317055 D RGD:9068941 20221103 RGD PMID:21364285|REF_RGD_ID:11561941 8854689 Tbx1 T-box transcription factor 1 gene DOID:9003483 Conductive Hearing Loss ISO RGD:1317101 D RGD:9068941 20221110 RGD DNA:missense mutation:CDS:p.W118R (mouse) PMID:28105375|REF_RGD_ID:155663349 8854689 Tbx1 T-box transcription factor 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8854689 Tbx1 T-box transcription factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8854689 Tbx1 T-box transcription factor 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317100 D RGD:7240710 20180530 OMIM 8854689 Tbx1 T-box transcription factor 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1317100 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations PMID:11748311|PMID:14585638|PMID:15355425|PMID:15703190|PMID:17273972|PMID:17576681|PMID:18375573|PMID:25741868|PMID:28492532|PMID:29250159|PMID:29500247|PMID:33995479|PMID:9536098 8854689 Tbx1 T-box transcription factor 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1317100 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8854689 Tbx1 T-box transcription factor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15190012|PMID:17000704 8854689 Tbx1 T-box transcription factor 1 gene DOID:9009050 Hypocalcemia ISO RGD:1317100 D RGD:9068941 20221103 RGD DNA:frameshift mutation:CDS:p.G387AfsX73 (human) PMID:32110744|REF_RGD_ID:155641234 8854689 Tbx1 T-box transcription factor 1 gene DOID:9408 acute myocardial infarction treatment ISO RGD:1307734 D RGD:9068941 20230128 RGD PMID:27422448|REF_RGD_ID:155882497 8854689 Tbx1 T-box transcription factor 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1317100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:28492532 8854701 Arl4a ADP ribosylation factor like GTPase 4A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8854701 Arl4a ADP ribosylation factor like GTPase 4A gene DOID:630 genetic disease ISO RGD:1604399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854707 Mfsd11 major facilitator superfamily domain containing 11 gene DOID:0060597 atypical chronic myeloid leukemia ISO RGD:1603960 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative 8854707 Mfsd11 major facilitator superfamily domain containing 11 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1603960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 8854707 Mfsd11 major facilitator superfamily domain containing 11 gene DOID:630 genetic disease ISO RGD:1603960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854707 Mfsd11 major facilitator superfamily domain containing 11 gene DOID:9119 acute myeloid leukemia ISO RGD:1603960 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8854725 Castor1 cytosolic arginine sensor for mTORC1 subunit 1 gene DOID:630 genetic disease ISO RGD:2306475 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854738 Nin ninein gene DOID:0050569 Seckel syndrome ISO RGD:1315140 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:28492532 8854738 Nin ninein gene DOID:0070011 Seckel syndrome 7 ISO RGD:1315140 D RGD:7240710 20180130 OMIM 8854738 Nin ninein gene DOID:0070011 Seckel syndrome 7 ISO RGD:1315140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 7 PMID:22933543|PMID:25741868|PMID:28492532 8854738 Nin ninein gene DOID:630 genetic disease ISO RGD:1315140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1321181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321181 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:0080942 anauxetic dysplasia ISO RGD:1321181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1321181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:1205 allergic disease ISO RGD:1321181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1321181 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:12626344|REF_RGD_ID:5130912 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:13564 aspergillosis ISO RGD:1321182 D RGD:9068941 20200609 RGD associated with Neutropenia;mRNA:increased expression:lung PMID:19783686|REF_RGD_ID:5130908 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:2841 asthma ISO RGD:1321181 D RGD:9068941 20200609 RGD protein:increased expression:bronchus submucosa, mast cell PMID:16959919|REF_RGD_ID:5130911 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:2957 pulmonary tuberculosis ISO RGD:1321182 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19933855|REF_RGD_ID:5130906 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:3042 allergic contact dermatitis ISO RGD:1321181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:3770 pulmonary fibrosis ISO RGD:1321181 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17717200|REF_RGD_ID:5130910 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:4483 rhinitis ISO RGD:1321182 D RGD:9068941 20200609 RGD PMID:17947663|REF_RGD_ID:5130909 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:552 pneumonia ISO RGD:1321181 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:630 genetic disease ISO RGD:1321181 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:874 bacterial pneumonia ISO RGD:1321182 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20176793|REF_RGD_ID:5130918 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321181 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8854801 Ccl19 C-C motif chemokine ligand 19 gene DOID:9870 galactosemia ISO RGD:1321181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8854809 Rasl10b RAS like family 10 member B gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1322024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 8854809 Rasl10b RAS like family 10 member B gene DOID:11612 polycystic ovary syndrome ISO RGD:1322024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8854809 Rasl10b RAS like family 10 member B gene DOID:630 genetic disease ISO RGD:1322024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854816 Sp1 Sp1 transcription factor gene DOID:4195 hyperglycemia ISO RGD:732035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11696579 8854816 Sp1 Sp1 transcription factor gene DOID:630 genetic disease ISO RGD:732035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854816 Sp1 Sp1 transcription factor gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:732035 D RGD:9068941 20200609 RGD protein:increased phosphorylation:smooth muscle cell: PMID:18258854|REF_RGD_ID:9854624 8854816 Sp1 Sp1 transcription factor gene DOID:9000918 Disease Progression ISO RGD:732035 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 8854816 Sp1 Sp1 transcription factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:732035 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:12538496|PMID:35072892 8854816 Sp1 Sp1 transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8854816 Sp1 Sp1 transcription factor gene DOID:9004464 Skin Neoplasms ISO RGD:732035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531 8854816 Sp1 Sp1 transcription factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732035 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:26317792|PMID:35072892 8854816 Sp1 Sp1 transcription factor gene DOID:9006182 Carotid Artery Injuries ISO RGD:3738 D RGD:9068941 20200609 RGD protein:increased phosphorylation:smooth muscle cell: PMID:18258854|REF_RGD_ID:9854624 8854816 Sp1 Sp1 transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531 8854816 Sp1 Sp1 transcription factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:732035 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35072892 8854830 Tfpt TCF3 fusion partner gene DOID:10584 retinitis pigmentosa ISO RGD:733579 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 8854830 Tfpt TCF3 fusion partner gene DOID:630 genetic disease ISO RGD:733579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854842 S100b S100 calcium binding protein B gene DOID:0050073 invasive aspergillosis ISO RGD:11252 D RGD:9068941 20200609 RGD PMID:21423669|REF_RGD_ID:5508765 8854842 S100b S100 calcium binding protein B gene DOID:0050847 sleep apnea ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus, astrocyte PMID:20002528|REF_RGD_ID:5508790 8854842 S100b S100 calcium binding protein B gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:737117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8854842 S100b S100 calcium binding protein B gene DOID:10652 Alzheimer's disease ISO RGD:11252 D RGD:9068941 20200609 RGD PMID:21080947|REF_RGD_ID:5508775 8854842 S100b S100 calcium binding protein B gene DOID:10652 Alzheimer's disease ISO RGD:3615 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:20953641|REF_RGD_ID:5508780 8854842 S100b S100 calcium binding protein B gene DOID:10652 Alzheimer's disease severity ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19705461|PMID:20105309|REF_RGD_ID:5508787|REF_RGD_ID:5508798 8854842 S100b S100 calcium binding protein B gene DOID:10763 hypertension ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21130083|REF_RGD_ID:5508770 8854842 S100b S100 calcium binding protein B gene DOID:11054 urinary bladder cancer ISO RGD:11252 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder urothelium PMID:17970044|REF_RGD_ID:2316906 8854842 S100b S100 calcium binding protein B gene DOID:11054 urinary bladder cancer ISO RGD:3615 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder urothelium PMID:17970044|REF_RGD_ID:2316906 8854842 S100b S100 calcium binding protein B gene DOID:11054 urinary bladder cancer ISO RGD:737117 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder urothelium PMID:17970044|REF_RGD_ID:2316906 8854842 S100b S100 calcium binding protein B gene DOID:11088 asphyxia neonatorum ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:14707571|REF_RGD_ID:5508819 8854842 S100b S100 calcium binding protein B gene DOID:11832 visual epilepsy ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:15464860|REF_RGD_ID:5509052 8854842 S100b S100 calcium binding protein B gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:20855493|REF_RGD_ID:5508781 8854842 S100b S100 calcium binding protein B gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737117 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:27929120|REF_RGD_ID:127284887 8854842 S100b S100 calcium binding protein B gene DOID:12783 migraine without aura ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21293918|REF_RGD_ID:5508769 8854842 S100b S100 calcium binding protein B gene DOID:12849 autistic disorder ISO RGD:737117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8854842 S100b S100 calcium binding protein B gene DOID:12930 dilated cardiomyopathy ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18068619|REF_RGD_ID:2324684 8854842 S100b S100 calcium binding protein B gene DOID:13100 intracranial vasospasm ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 8854842 S100b S100 calcium binding protein B gene DOID:13413 hepatic encephalopathy ISO RGD:737117 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34792689 8854842 S100b S100 calcium binding protein B gene DOID:13564 aspergillosis ISO RGD:737117 D RGD:9068941 20200609 RGD DNA:SNP: :427C>T (human) PMID:22114731|REF_RGD_ID:8695981 8854842 S100b S100 calcium binding protein B gene DOID:14250 Down syndrome ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12888777 8854842 S100b S100 calcium binding protein B gene DOID:14330 Parkinson's disease ISO RGD:11252 D RGD:9068941 20200609 RGD PMID:21725169|REF_RGD_ID:5508763 8854842 S100b S100 calcium binding protein B gene DOID:14330 Parkinson's disease ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:21402140|REF_RGD_ID:5508766 8854842 S100b S100 calcium binding protein B gene DOID:1440 Machado-Joseph disease ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21743141|REF_RGD_ID:5508762 8854842 S100b S100 calcium binding protein B gene DOID:1596 depressive disorder ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:21843601|REF_RGD_ID:5508824 8854842 S100b S100 calcium binding protein B gene DOID:1790 malignant mesothelioma ISO RGD:737117 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 8854842 S100b S100 calcium binding protein B gene DOID:1826 epilepsy ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:21402140|REF_RGD_ID:5508766 8854842 S100b S100 calcium binding protein B gene DOID:2316 brain ischemia ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21695352|REF_RGD_ID:5508764 8854842 S100b S100 calcium binding protein B gene DOID:2366 West Nile fever ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19790244|REF_RGD_ID:5508797 8854842 S100b S100 calcium binding protein B gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:brain, cerebrospinal fluid PMID:12076997|REF_RGD_ID:5508822 8854842 S100b S100 calcium binding protein B gene DOID:3213 demyelinating disease ISO RGD:3615 D RGD:9068941 20200609 RGD PMID:21885671|REF_RGD_ID:5508823 8854842 S100b S100 calcium binding protein B gene DOID:3312 bipolar disorder ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:15581912|REF_RGD_ID:5508853 8854842 S100b S100 calcium binding protein B gene DOID:3312 bipolar disorder ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15581912|PMID:16476148 8854842 S100b S100 calcium binding protein B gene DOID:3525 middle cerebral artery infarction ISO RGD:3615 D RGD:9068941 20230921 RGD protein:increased expression:cerebrum, astrocyte PMID:23595285|REF_RGD_ID:401794586 8854842 S100b S100 calcium binding protein B gene DOID:4724 brain edema ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19147496|REF_RGD_ID:5508832 8854842 S100b S100 calcium binding protein B gene DOID:4724 brain edema ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027832 8854842 S100b S100 calcium binding protein B gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:737117 D RGD:9068941 20220708 RGD protein:increased expression:intrahepatic bile duct (human) PMID:30377796|REF_RGD_ID:152998946 8854842 S100b S100 calcium binding protein B gene DOID:5154 borna disease ISO RGD:3615 D RGD:9068941 20200609 RGD protein:decreased expression:cerebellum, cerebral cortex PMID:17376896|REF_RGD_ID:5508841 8854842 S100b S100 calcium binding protein B gene DOID:5419 schizophrenia ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19539717|REF_RGD_ID:5508799 8854842 S100b S100 calcium binding protein B gene DOID:5419 schizophrenia susceptibility ISO RGD:737117 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:3' utr, cds:5748C>T, 2757C>G (rs9722, rs1051169) (human) PMID:15670788|REF_RGD_ID:14696780 8854842 S100b S100 calcium binding protein B gene DOID:5844 myocardial infarction ISO RGD:3615 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle myocardium, plasma PMID:19910580|REF_RGD_ID:2325647 8854842 S100b S100 calcium binding protein B gene DOID:5844 myocardial infarction ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9788975 8854842 S100b S100 calcium binding protein B gene DOID:630 genetic disease ISO RGD:737117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854842 S100b S100 calcium binding protein B gene DOID:8869 neuromyelitis optica ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:21371524|REF_RGD_ID:5508767 8854842 S100b S100 calcium binding protein B gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:737117 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:27929120|REF_RGD_ID:127284887 8854842 S100b S100 calcium binding protein B gene DOID:9000930 Dental Pulp Exposure ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:20043976|REF_RGD_ID:5508788 8854842 S100b S100 calcium binding protein B gene DOID:9000998 Brain Injuries ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11520488|PMID:21783483 8854842 S100b S100 calcium binding protein B gene DOID:9000998 Brain Injuries severity ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:21976236|REF_RGD_ID:5508761 8854842 S100b S100 calcium binding protein B gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21663912|REF_RGD_ID:5508825 8854842 S100b S100 calcium binding protein B gene DOID:9002407 Spinal Fractures ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20304889|REF_RGD_ID:5508786 8854842 S100b S100 calcium binding protein B gene DOID:9002676 Cerebral Hemorrhage ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027832 8854842 S100b S100 calcium binding protein B gene DOID:9002676 Cerebral Hemorrhage disease_progression ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19505208|REF_RGD_ID:5508801 8854842 S100b S100 calcium binding protein B gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:737117 D RGD:9068941 20200609 RGD associated with Asphyxia Neonatorum;protein:increased expression:urine PMID:14707571|REF_RGD_ID:5508819 8854842 S100b S100 calcium binding protein B gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:737117 D RGD:9068941 20221020 RGD protein:increased expression:blood serum (human) PMID:29568675|REF_RGD_ID:155598592 8854842 S100b S100 calcium binding protein B gene DOID:9004009 Reperfusion Injury ISO RGD:3615 D RGD:9068941 20200609 RGD PMID:18840784|REF_RGD_ID:5508834 8854842 S100b S100 calcium binding protein B gene DOID:9004442 Diffuse Brain Injuries ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30076900 8854842 S100b S100 calcium binding protein B gene DOID:9004484 Sepsis ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19809934|REF_RGD_ID:5508796 8854842 S100b S100 calcium binding protein B gene DOID:9004871 Mercury Poisoning, Nervous System ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30076900 8854842 S100b S100 calcium binding protein B gene DOID:9005372 Inflammation ISO RGD:737117 D RGD:9068941 20200609 RGD associated with Stroke PMID:21034449|REF_RGD_ID:5508779 8854842 S100b S100 calcium binding protein B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3615 D RGD:9068941 20200609 RGD protein:altered expression:hippocampus, astrocyte PMID:18708122|REF_RGD_ID:5508836 8854842 S100b S100 calcium binding protein B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum, cerebral cortex, hippocampus PMID:14583344|REF_RGD_ID:5508821 8854842 S100b S100 calcium binding protein B gene DOID:9006013 Hematoma ISO RGD:3615 D RGD:9068941 20200609 RGD associated with Stroke;protein:increased expression:serum PMID:19147496|REF_RGD_ID:5508832 8854842 S100b S100 calcium binding protein B gene DOID:9006013 Hematoma ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027832 8854842 S100b S100 calcium binding protein B gene DOID:9006024 Hypotension ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17944636|REF_RGD_ID:5508837 8854842 S100b S100 calcium binding protein B gene DOID:9006205 Animal Disease Models ISO RGD:737117 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:12888777|PMID:34792689 8854842 S100b S100 calcium binding protein B gene DOID:9006956 nephrotoxicity treatment ISO RGD:3615 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8854842 S100b S100 calcium binding protein B gene DOID:9007096 Stroke severity ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17706250|REF_RGD_ID:5508838 8854842 S100b S100 calcium binding protein B gene DOID:9007096 Stroke severity ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:19959621|REF_RGD_ID:5508793 8854842 S100b S100 calcium binding protein B gene DOID:9007502 Brain Neoplasms ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 8854842 S100b S100 calcium binding protein B gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3615 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:21663912|REF_RGD_ID:5508825 8854842 S100b S100 calcium binding protein B gene DOID:9008763 Femoral Fractures ISO RGD:3615 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:14504167|REF_RGD_ID:5509053 8854842 S100b S100 calcium binding protein B gene DOID:9009161 Attention Deficit and Disruptive Behavior Disorders ISO RGD:737117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25451971 8854842 S100b S100 calcium binding protein B gene DOID:936 brain disease disease_progression ISO RGD:737117 D RGD:9068941 20200609 RGD PMID:20847541|REF_RGD_ID:5508782 8854842 S100b S100 calcium binding protein B gene DOID:9470 bacterial meningitis ISO RGD:737117 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:15105355|REF_RGD_ID:5508818 8854849 Hpx hemopexin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8854849 Hpx hemopexin gene DOID:3021 acute kidney failure ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8854849 Hpx hemopexin gene DOID:417 autoimmune disease ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18641331 8854849 Hpx hemopexin gene DOID:630 genetic disease ISO RGD:737150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854849 Hpx hemopexin gene DOID:682 compartment syndrome ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14500188 8854849 Hpx hemopexin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8854849 Hpx hemopexin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8854849 Hpx hemopexin gene DOID:9352 type 2 diabetes mellitus ISO RGD:737150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16506275 8854866 Kcp kielin cysteine rich BMP regulator gene DOID:0080096 myofibrillar myopathy 5 ISO RGD:1601689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:28492532 8854866 Kcp kielin cysteine rich BMP regulator gene DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 ISO RGD:1601689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F PMID:28492532 8854866 Kcp kielin cysteine rich BMP regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8854866 Kcp kielin cysteine rich BMP regulator gene DOID:630 genetic disease ISO RGD:1601689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854911 Klhl33 kelch like family member 33 gene DOID:630 genetic disease ISO RGD:1642111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0060041 autism spectrum disorder ISO RGD:1313295 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1313295 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:16116617|PMID:16199547|PMID:17576681|PMID:18347291|PMID:19131948|PMID:19890349|PMID:23083690|PMID:23621129|PMID:24033266|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29687370|PMID:31046801|PMID:31168818|PMID:31642606|PMID:31953843|PMID:33255364|PMID:33435499|PMID:33726816|PMID:34008892|PMID:34379964|PMID:9536098 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21739938 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1313295 D RGD:7240710 20180130 OMIM 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1313295 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 PMID:11773004|PMID:16116617|PMID:16199547|PMID:17139268|PMID:17576681|PMID:18347291|PMID:18414213|PMID:19131948|PMID:19890349|PMID:20222929|PMID:22622417|PMID:23083690|PMID:23621129|PMID:24033266|PMID:25524567|PMID:25741868|PMID:25998749|PMID:26762237|PMID:26863999|PMID:27025581|PMID:28492532|PMID:29687370|PMID:31046801|PMID:31168818|PMID:31642606|PMID:31953843|PMID:32253496|PMID:33435499|PMID:33726816|PMID:34008892|PMID:34379964|PMID:35052464|PMID:36003334|PMID:9536098 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:12177 common variable immunodeficiency ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1313295 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:1697 ichthyosis ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:16116617|PMID:19131948|PMID:19890349|PMID:24033266|PMID:25741868|PMID:27025581|PMID:28492532|PMID:31168818|PMID:34008892 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:1793 pancreatic cancer ISO RGD:1313295 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:2729 dyskeratosis congenita ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:299 adenocarcinoma ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1313295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:3910 lung adenocarcinoma ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:4450 renal cell carcinoma ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:630 genetic disease ISO RGD:1313295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:9002928 Colonic Neoplasms ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:9003124 Labrune Syndrome ISO RGD:1313295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts 8854923 Alox12b arachidonate 12-lipoxygenase, 12R type gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1313295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 8854942 Mcoln3 mucolipin TRP cation channel 3 gene DOID:630 genetic disease ISO RGD:1318177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854969 Scgb3a1 secretoglobin family 3A member 1 gene DOID:289 endometriosis ISO RGD:1343531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8854969 Scgb3a1 secretoglobin family 3A member 1 gene DOID:630 genetic disease ISO RGD:1343531 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854976 LOC102027285 histone H2A.J gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1343634 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8854976 LOC102027285 histone H2A.J gene DOID:630 genetic disease ISO RGD:1343634 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8854981 Tmem41b transmembrane protein 41B gene DOID:630 genetic disease ISO RGD:1347999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855012 Bri3 brain protein I3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8855012 Bri3 brain protein I3 gene DOID:630 genetic disease ISO RGD:1319388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855019 Selenop selenoprotein P gene DOID:0050860 colorectal adenoma ISO RGD:737591 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 8855019 Selenop selenoprotein P gene DOID:0080199 colorectal carcinoma ISO RGD:737591 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 8855019 Selenop selenoprotein P gene DOID:12336 male infertility ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961124 8855019 Selenop selenoprotein P gene DOID:1289 neurodegenerative disease ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 8855019 Selenop selenoprotein P gene DOID:289 endometriosis ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8855019 Selenop selenoprotein P gene DOID:305 carcinoma ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8855019 Selenop selenoprotein P gene DOID:418 systemic scleroderma ISO RGD:737591 D RGD:9068941 20230923 RGD protein:decreased expression:serum PMID:32630589|REF_RGD_ID:401827129 8855019 Selenop selenoprotein P gene DOID:630 genetic disease ISO RGD:737591 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855019 Selenop selenoprotein P gene DOID:657 adenoma ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 8855019 Selenop selenoprotein P gene DOID:863 nervous system disease ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14704310|PMID:17961124 8855019 Selenop selenoprotein P gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8855019 Selenop selenoprotein P gene DOID:9001191 Cadmium Poisoning ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643113 8855019 Selenop selenoprotein P gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8855019 Selenop selenoprotein P gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737591 D RGD:9068941 20230923 RGD associated with systemic scleroderma;protein:decreased expression:serum PMID:32630589|REF_RGD_ID:401827129 8855019 Selenop selenoprotein P gene DOID:9002304 Prostatic Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12235003 8855019 Selenop selenoprotein P gene DOID:9002955 Nerve Degeneration ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18172410 8855019 Selenop selenoprotein P gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8855019 Selenop selenoprotein P gene DOID:9005172 Lung Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19058871 8855019 Selenop selenoprotein P gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8855019 Selenop selenoprotein P gene DOID:9007692 Insulin Resistance ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14714311 8855019 Selenop selenoprotein P gene DOID:9008443 Colorectal Neoplasms ISO RGD:737591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 8855033 Hyal2 hyaluronidase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8855033 Hyal2 hyaluronidase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8855033 Hyal2 hyaluronidase 2 gene DOID:630 genetic disease ISO RGD:733698 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8855033 Hyal2 hyaluronidase 2 gene DOID:6432 pulmonary hypertension ISO RGD:620321 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19915162|REF_RGD_ID:9588633 8855033 Hyal2 hyaluronidase 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620321 D RGD:9068941 20200609 RGD PMID:22529164|REF_RGD_ID:9588636 8855033 Hyal2 hyaluronidase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:733698 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8855045 Lrp4 LDL receptor related protein 4 gene DOID:0060251 sclerosteosis ISO RGD:731744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8855045 Lrp4 LDL receptor related protein 4 gene DOID:0060757 sclerosteosis 2 ISO RGD:731744 D RGD:7240710 20180130 OMIM 8855045 Lrp4 LDL receptor related protein 4 gene DOID:0060757 sclerosteosis 2 ISO RGD:731744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sclerosteosis 2 PMID:11385236|PMID:21471202|PMID:24234652|PMID:25741868|PMID:28492532|PMID:7891385 8855045 Lrp4 LDL receptor related protein 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:731744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8855045 Lrp4 LDL receptor related protein 4 gene DOID:0090015 Cenani-Lenz syndactyly syndrome ISO RGD:731744 D RGD:7240710 20180130 OMIM 8855045 Lrp4 LDL receptor related protein 4 gene DOID:0090015 Cenani-Lenz syndactyly syndrome ISO RGD:731744 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7 PMID:10756427|PMID:11260233|PMID:12868467|PMID:14577675|PMID:16199547|PMID:17576681|PMID:18978656|PMID:20381006|PMID:21471202|PMID:23636941|PMID:24234652|PMID:24924585|PMID:25119311|PMID:25741868|PMID:26751728|PMID:28492532|PMID:28559208|PMID:7891385|PMID:9182770|PMID:9536098 8855045 Lrp4 LDL receptor related protein 4 gene DOID:0090015 Cenani-Lenz syndactyly syndrome ISO RGD:731744 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII | ClinVar Annotator: match by term: Syndactyly type 7 PMID:10756427|PMID:11260233|PMID:12868467|PMID:14577675|PMID:16199547|PMID:17576681|PMID:18978656|PMID:20381006|PMID:21471202|PMID:23636941|PMID:24234652|PMID:24924585|PMID:25119311|PMID:25741868|PMID:26751728|PMID:28492532|PMID:28559208|PMID:34857885|PMID:7891385|PMID:9182770|PMID:9536098 8855045 Lrp4 LDL receptor related protein 4 gene DOID:0110674 congenital myasthenic syndrome 17 ISO RGD:731744 D RGD:7240710 20180130 OMIM 8855045 Lrp4 LDL receptor related protein 4 gene DOID:0110674 congenital myasthenic syndrome 17 ISO RGD:731744 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 17 PMID:24234652|PMID:25741868|PMID:28492532 8855045 Lrp4 LDL receptor related protein 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 8855045 Lrp4 LDL receptor related protein 4 gene DOID:1059 intellectual disability ISO RGD:731744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8855045 Lrp4 LDL receptor related protein 4 gene DOID:11193 syndactyly ISO RGD:731744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16207730 8855045 Lrp4 LDL receptor related protein 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731744 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8855045 Lrp4 LDL receptor related protein 4 gene DOID:3635 congenital myasthenic syndrome ISO RGD:731744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8855045 Lrp4 LDL receptor related protein 4 gene DOID:630 genetic disease ISO RGD:731744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8855045 Lrp4 LDL receptor related protein 4 gene DOID:9009007 Tooth Abnormalities ISO RGD:731744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16207730 8855073 Msh5 mutS homolog 5 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1343663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8855073 Msh5 mutS homolog 5 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1343663 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:34755185 8855073 Msh5 mutS homolog 5 gene DOID:0080870 primary ovarian insufficiency 13 ISO RGD:1343663 D RGD:7240710 20190315 OMIM 8855073 Msh5 mutS homolog 5 gene DOID:0080870 primary ovarian insufficiency 13 ISO RGD:1343663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 13 PMID:28175301 8855073 Msh5 mutS homolog 5 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1343663 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 8855073 Msh5 mutS homolog 5 gene DOID:14227 azoospermia ISO RGD:1343663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8855073 Msh5 mutS homolog 5 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1343663 D RGD:9068941 20210430 RGD DNA:SNPs: :rs805304, rs707939 (human) PMID:28093084|REF_RGD_ID:126848786 8855073 Msh5 mutS homolog 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8855073 Msh5 mutS homolog 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1343663 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 8855073 Msh5 mutS homolog 5 gene DOID:630 genetic disease ISO RGD:1343663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855073 Msh5 mutS homolog 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1343663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8855073 Msh5 mutS homolog 5 gene DOID:9002151 Spermatogenic Failure 74 ISO RGD:1343663 D RGD:7240710 20220720 OMIM 8855073 Msh5 mutS homolog 5 gene DOID:9002151 Spermatogenic Failure 74 ISO RGD:1343663 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 74 PMID:25741868|PMID:34755185 8855100 Nek1 NIMA related kinase 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:23757202|PMID:28492532|PMID:29068549 8855100 Nek1 NIMA related kinase 1 gene DOID:0081378 amyotrophic lateral sclerosis type 24 ISO RGD:1319690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24 PMID:21211617|PMID:22499340|PMID:24033266|PMID:25741868|PMID:26945885|PMID:27455347|PMID:28089114|PMID:28123176|PMID:28492532|PMID:28935222|PMID:29068549|PMID:30408610 8855100 Nek1 NIMA related kinase 1 gene DOID:0081378 amyotrophic lateral sclerosis type 24 susceptibility ISO RGD:1319690 D RGD:7240710 20240320 OMIM 8855100 Nek1 NIMA related kinase 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:25741868 8855100 Nek1 NIMA related kinase 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:21211617|PMID:25741868 8855100 Nek1 NIMA related kinase 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1319690 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: NEK1-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21211617|PMID:22406018|PMID:22499340|PMID:23757202|PMID:24033266|PMID:25492405|PMID:25741868|PMID:26945885|PMID:27455347|PMID:27530628|PMID:28089114|PMID:28123176|PMID:28492532|PMID:28710492|PMID:28935222|PMID:29068549|PMID:29431110|PMID:29650794|PMID:30093141|PMID:3014367|PMID:30408610|PMID:32462798|PMID:32920598|PMID:33445179|PMID:35495032|PMID:36443167|PMID:9536098 8855100 Nek1 NIMA related kinase 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly susceptibility ISO RGD:1319690 D RGD:7240710 20240320 OMIM 8855100 Nek1 NIMA related kinase 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1319691 D RGD:9068941 20220825 MouseDO OMIM:263200 8855100 Nek1 NIMA related kinase 1 gene DOID:231 motor neuron disease ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:16199547|PMID:22499340|PMID:25741868|PMID:27455347|PMID:28089114|PMID:28492532|PMID:29068549|PMID:29431110 8855100 Nek1 NIMA related kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8855100 Nek1 NIMA related kinase 1 gene DOID:614 lymphopenia ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphopenia PMID:25741868|PMID:28089114|PMID:28492532 8855100 Nek1 NIMA related kinase 1 gene DOID:630 genetic disease ISO RGD:1319690 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:36443167 8855100 Nek1 NIMA related kinase 1 gene DOID:65 connective tissue disease ISO RGD:1319690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16199547|PMID:22499340|PMID:25741868|PMID:28089114|PMID:28492532|PMID:29068549 8855100 Nek1 NIMA related kinase 1 gene DOID:9003244 Mohr Syndrome ISO RGD:1319690 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mohr syndrome PMID:27530628 8855100 Nek1 NIMA related kinase 1 gene DOID:9003244 Mohr Syndrome susceptibility ISO RGD:1319690 D RGD:7240710 20240320 OMIM 8855100 Nek1 NIMA related kinase 1 gene DOID:9007073 Cough ISO RGD:1319690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28089114|PMID:28492532 8855100 Nek1 NIMA related kinase 1 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1319690 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:25741868|PMID:29068549 8855148 Elovl7 ELOVL fatty acid elongase 7 gene DOID:0080907 Cockayne syndrome A ISO RGD:1321534 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type 1 8855148 Elovl7 ELOVL fatty acid elongase 7 gene DOID:630 genetic disease ISO RGD:1321534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855148 Elovl7 ELOVL fatty acid elongase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8855161 Mtap methylthioadenosine phosphorylase gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1320830 D RGD:9068941 20200609 RGD PMID:16373701|REF_RGD_ID:2317953 8855161 Mtap methylthioadenosine phosphorylase gene DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma ISO RGD:1320830 D RGD:7240710 20180130 OMIM 8855161 Mtap methylthioadenosine phosphorylase gene DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma ISO RGD:1320830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY PMID:13511301|PMID:16244874|PMID:16419137|PMID:22464254|PMID:25741868|PMID:28492532|PMID:3745248|PMID:4713573|PMID:8781110 8855161 Mtap methylthioadenosine phosphorylase gene DOID:1793 pancreatic cancer ISO RGD:1320830 D RGD:9068941 20200609 RGD DNA, protein:deletion, decreased activity:pancreas: PMID:15534104|REF_RGD_ID:2317952 8855161 Mtap methylthioadenosine phosphorylase gene DOID:1909 melanoma ISO RGD:1320830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578364 8855161 Mtap methylthioadenosine phosphorylase gene DOID:4608 common bile duct neoplasm ISO RGD:1320830 D RGD:9068941 20200609 RGD DNA, protein:deletion, decreased expression:common bile duct: PMID:15662124|REF_RGD_ID:2317954 8855161 Mtap methylthioadenosine phosphorylase gene DOID:5419 schizophrenia ISO RGD:1320830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8855161 Mtap methylthioadenosine phosphorylase gene DOID:630 genetic disease ISO RGD:1320830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855161 Mtap methylthioadenosine phosphorylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 8855161 Mtap methylthioadenosine phosphorylase gene DOID:9002969 Nevus ISO RGD:1320830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578365 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:0060224 atrial fibrillation ISO RGD:1352542 D RGD:9068941 20230722 RGD DNA:missense mutation:cds:V498L (rs16899974) (human) PMID:26984639|REF_RGD_ID:329961314 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1352542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:0080832 mild cognitive impairment ISO RGD:1352542 D RGD:9068941 20230727 RGD DNA:SNP:cds:rs16899972|rs37369 (human) PMID:37120436|REF_RGD_ID:329961564 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:10763 hypertension ISO RGD:1352542 D RGD:9068941 20230727 RGD DNA:SNP, haplotype:exon:multiple (human) PMID:33879046|REF_RGD_ID:329961321 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:3393 coronary artery disease ISO RGD:1352542 D RGD:9068941 20230722 RGD DNA:missense mutation:cds:rs37369, rs16899974 (human) PMID:30284143|REF_RGD_ID:329961317 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:3526 cerebral infarction onset ISO RGD:1352542 D RGD:9068941 20230722 RGD DNA:missense mutation:cds:V498L (rs16899974) (human) PMID:26984639|REF_RGD_ID:329961314 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:3669 intermittent claudication ISO RGD:1352542 D RGD:9068941 20230727 RGD associated with type 2 diabetes mellitus;DNA:SNP:cds:rs2830 (human) PMID:24186881|REF_RGD_ID:329969899 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:6000 congestive heart failure ISO RGD:1352542 D RGD:9068941 20230720 RGD DNA:SNP:CDS:V140I (rs37369) (human) PMID:27423328|REF_RGD_ID:329961308 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:630 genetic disease ISO RGD:1352542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:655 inherited metabolic disorder ISO RGD:1352542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572414 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:9000528 Coronary Disease ISO RGD:1352542 D RGD:9068941 20230722 RGD DNA:missense mutation:cds:V140I (rs37369)(human) PMID:24834905|REF_RGD_ID:329961320 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1352542 D RGD:9068941 20230722 RGD DNA:missense mutations:cds:multiple (human) PMID:25620171|REF_RGD_ID:329961318 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:9007096 Stroke ISO RGD:1352542 D RGD:9068941 20230727 RGD DNA:SNP:cds:rs40200 (human) PMID:25245031|REF_RGD_ID:329970278 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:9008474 Beta-Aminoisobutyric Acid, Urinary Excretion of ISO RGD:1352542 D RGD:7240710 20200304 OMIM 8855176 Agxt2 alanine--glyoxylate aminotransferase 2 gene DOID:9008474 Beta-Aminoisobutyric Acid, Urinary Excretion of ISO RGD:1352542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-aminoisobutyric acid, urinary excretion of PMID:21572414 8855196 Mid1 midline 1 gene DOID:0080697 Opitz GBBB syndrome ISO RGD:732275 D RGD:7240710 20180130 OMIM 8855196 Mid1 midline 1 gene DOID:0080697 Opitz GBBB syndrome ISO RGD:732275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I PMID:11030761|PMID:12545276|PMID:15121778|PMID:15558842|PMID:17221865|PMID:18360914|PMID:18949047|PMID:20671548|PMID:21326312|PMID:23757202|PMID:25207814|PMID:25304119|PMID:25741868|PMID:25874572|PMID:27749392|PMID:28492532|PMID:29456483|PMID:32926417|PMID:9354791 8855196 Mid1 midline 1 gene DOID:0080698 Teebi hypertelorism syndrome 1 ISO RGD:732275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Opitz-Frias syndrome PMID:11030761|PMID:12545276|PMID:15121778|PMID:15558842|PMID:17221865|PMID:18360914|PMID:18949047|PMID:20671548|PMID:21326312|PMID:23757202|PMID:25207814|PMID:25304119|PMID:25741868|PMID:25874572|PMID:27749392|PMID:28492532|PMID:29456483|PMID:32926417|PMID:9354791 8855196 Mid1 midline 1 gene DOID:10629 microphthalmia ISO RGD:732276 D RGD:9068941 20220825 MouseDO OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 8855196 Mid1 midline 1 gene DOID:12849 autistic disorder ISO RGD:732275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8855196 Mid1 midline 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:732275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:15121778|PMID:15558842|PMID:25741868 8855196 Mid1 midline 1 gene DOID:630 genetic disease ISO RGD:732275 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18360914|PMID:18414213|PMID:25741868|PMID:28492532 8855196 Mid1 midline 1 gene DOID:9003133 Hypertelorism ISO RGD:732275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 8855196 Mid1 midline 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8855238 Prpsap2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:732905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8855238 Prpsap2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:732905 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8855238 Prpsap2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:732905 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8855238 Prpsap2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:12849 autistic disorder ISO RGD:732905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8855238 Prpsap2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:630 genetic disease ISO RGD:732905 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855238 Prpsap2 phosphoribosyl pyrophosphate synthetase associated protein 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:732905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 8855266 Pnn pinin, desmosome associated protein gene DOID:630 genetic disease ISO RGD:1313105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855266 Pnn pinin, desmosome associated protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313105 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8855293 Fga fibrinogen alpha chain gene DOID:0050636 familial visceral amyloidosis ISO RGD:737209 D RGD:7240710 20180130 OMIM 8855293 Fga fibrinogen alpha chain gene DOID:0050636 familial visceral amyloidosis ISO RGD:737209 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: AFib amyloidosis | ClinVar Annotator: match by term: Amyloidosis 8 | ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:10887149|PMID:10891444|PMID:10910940|PMID:12050338|PMID:12871326|PMID:14615374|PMID:16362348|PMID:16651864|PMID:17576681|PMID:17982313|PMID:19109585|PMID:19420351|PMID:19468208|PMID:22880226|PMID:25741868|PMID:25816717|PMID:26763372|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28492532|PMID:28912669|PMID:30332696|PMID:30349899|PMID:31064749|PMID:32166693|PMID:32660897|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34275736|PMID:34355501|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640|PMID:8097946|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8639778|PMID:8944230|PMID:9389696|PMID:9536098 8855293 Fga fibrinogen alpha chain gene DOID:0060903 thrombosis ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8473507 8855293 Fga fibrinogen alpha chain gene DOID:0112313 brain small vessel disease ISO RGD:737209 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes PMID:17951283|REF_RGD_ID:5688761 8855293 Fga fibrinogen alpha chain gene DOID:10126 keratoconus ISO RGD:737209 D RGD:9068941 20200609 RGD protein:decreased expression:tear (human) PMID:24194634|REF_RGD_ID:11040557 8855293 Fga fibrinogen alpha chain gene DOID:11247 disseminated intravascular coagulation ISO RGD:2603 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:23538169|REF_RGD_ID:10755508 8855293 Fga fibrinogen alpha chain gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:22800895|REF_RGD_ID:10755509 8855293 Fga fibrinogen alpha chain gene DOID:11476 osteoporosis ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8855293 Fga fibrinogen alpha chain gene DOID:13580 cholestasis ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 8855293 Fga fibrinogen alpha chain gene DOID:1588 thrombocytopenia ISO RGD:737209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:28492532 8855293 Fga fibrinogen alpha chain gene DOID:1588 thrombocytopenia treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:2005585|REF_RGD_ID:10755505 8855293 Fga fibrinogen alpha chain gene DOID:2213 hemorrhagic disease ISO RGD:737209 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:17982313|PMID:22880226|PMID:25741868|PMID:25816717|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28492532|PMID:30332696|PMID:31064749|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34275736|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640 8855293 Fga fibrinogen alpha chain gene DOID:2236 congenital afibrinogenemia ISO RGD:737209 D RGD:7240710 20180130 OMIM 8855293 Fga fibrinogen alpha chain gene DOID:2236 congenital afibrinogenemia ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10602365|PMID:10605955|PMID:10887149|PMID:10891444|PMID:10910940|PMID:12050338|PMID:12358944|PMID:12871326|PMID:14615374|PMID:16362348|PMID:16651864|PMID:17576681|PMID:17982313|PMID:19109585|PMID:19420351|PMID:19468208|PMID:22880226|PMID:237956|PMID:23852822|PMID:25320241|PMID:25741868|PMID:25816717|PMID:26006300|PMID:26577257|PMID:26763372|PMID:27164460|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34355501|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098 8855293 Fga fibrinogen alpha chain gene DOID:2236 congenital afibrinogenemia ISO RGD:737209 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia PMID:10602365|PMID:10605955|PMID:10887149|PMID:10891444|PMID:10910940|PMID:12050338|PMID:12358944|PMID:12871326|PMID:14615374|PMID:16362348|PMID:16651864|PMID:17576681|PMID:17982313|PMID:19109585|PMID:19420351|PMID:19468208|PMID:22880226|PMID:23852822|PMID:25320241|PMID:25741868|PMID:25816717|PMID:26006300|PMID:26577257|PMID:26763372|PMID:27164460|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28492532|PMID:28912669|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:32166693|PMID:32660897|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34275736|PMID:34355501|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098 8855293 Fga fibrinogen alpha chain gene DOID:2316 brain ischemia treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:22737923|REF_RGD_ID:11040923 8855293 Fga fibrinogen alpha chain gene DOID:2452 thrombophilia ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8473507 8855293 Fga fibrinogen alpha chain gene DOID:2452 thrombophilia ISO RGD:737209 D RGD:9068941 20200609 RGD DNA:polymorphism:p.T312A (human) PMID:10910940|REF_RGD_ID:1601167 8855293 Fga fibrinogen alpha chain gene DOID:2841 asthma treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:24523826|REF_RGD_ID:11040539 8855293 Fga fibrinogen alpha chain gene DOID:3021 acute kidney failure ISO RGD:2603 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:15805072|REF_RGD_ID:9685024 8855293 Fga fibrinogen alpha chain gene DOID:4989 pancreatitis ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, rough endoplasmic reticulum PMID:19954227|REF_RGD_ID:5688770 8855293 Fga fibrinogen alpha chain gene DOID:557 kidney disease ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8097946|PMID:8639778 8855293 Fga fibrinogen alpha chain gene DOID:630 genetic disease ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8855293 Fga fibrinogen alpha chain gene DOID:8778 Crohn's disease ISO RGD:737209 D RGD:9068941 20200609 RGD PMID:19683480|REF_RGD_ID:5688758 8855293 Fga fibrinogen alpha chain gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2603 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23503399|REF_RGD_ID:9685021 8855293 Fga fibrinogen alpha chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:737209 D RGD:7240710 20180130 OMIM 8855293 Fga fibrinogen alpha chain gene DOID:9003464 Congenital Dysfibrinogenemia ISO RGD:737209 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN AARHUS 1 | ClinVar Annotator: match by term: FIBRINOGEN CARACAS 2 PMID:10605955|PMID:10887149|PMID:10891444|PMID:11435303|PMID:11460527|PMID:12050338|PMID:14615374|PMID:15009465|PMID:15795544|PMID:16651864|PMID:1675636|PMID:16846481|PMID:17576681|PMID:17982313|PMID:19109585|PMID:1912564|PMID:19468208|PMID:19923982|PMID:22880226|PMID:22967385|PMID:23852822|PMID:25320241|PMID:25741868|PMID:25816717|PMID:25981141|PMID:26006300|PMID:26577257|PMID:26676819|PMID:26763372|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28492532|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:31924745|PMID:32166693|PMID:32660897|PMID:32877852|PMID:3345340|PMID:33477601|PMID:33668986|PMID:33807613|PMID:34275736|PMID:34355501|PMID:3590111|PMID:3618591|PMID:3667568|PMID:4052020|PMID:4082078|PMID:6191801|PMID:6667926|PMID:7298640|PMID:8113408|PMID:8140431|PMID:8457654|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098|PMID:9916133 8855293 Fga fibrinogen alpha chain gene DOID:9003505 Venous Thromboembolism ISO RGD:737209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to PMID:10910940|PMID:16362348|PMID:25741868 8855293 Fga fibrinogen alpha chain gene DOID:9003871 Venous Thrombosis ISO RGD:737209 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deep vein thrombosis PMID:25741868|PMID:34355501|PMID:8473507|PMID:8636415 8855293 Fga fibrinogen alpha chain gene DOID:9004484 Sepsis ISO RGD:2603 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:24667622|REF_RGD_ID:9685020 8855293 Fga fibrinogen alpha chain gene DOID:9004492 Familial Amyloidosis ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8097946|PMID:8639778 8855293 Fga fibrinogen alpha chain gene DOID:9004492 Familial Amyloidosis ISO RGD:737209 D RGD:9068941 20200609 RGD renal amyloidosis,OMIM:105200;DNA:point mutation:exon:p.R554L (human) PMID:8097946|REF_RGD_ID:1601166 8855293 Fga fibrinogen alpha chain gene DOID:9004590 Acute Liver Failure treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:24799907|REF_RGD_ID:11040538 8855293 Fga fibrinogen alpha chain gene DOID:9004610 Acute Lung Injury ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:blood (rat) PMID:22804886|REF_RGD_ID:7387313 8855293 Fga fibrinogen alpha chain gene DOID:9004929 Congenital Hypodysfibrinogenemia ISO RGD:737209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FIBRINOGEN ROUEN 1 | ClinVar Annotator: match by term: Hypodysfibrinogenemia, congenital PMID:10891444|PMID:11914657|PMID:14615374|PMID:17576681|PMID:25320241|PMID:25741868|PMID:2742828|PMID:28492532|PMID:30349899|PMID:31064749|PMID:31583746|PMID:4084461|PMID:6575689|PMID:9536098 8855293 Fga fibrinogen alpha chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:23086277|REF_RGD_ID:9684989 8855293 Fga fibrinogen alpha chain gene DOID:9005930 Endotoxemia treatment ISO RGD:2603 D RGD:9068941 20200609 RGD PMID:19295478|REF_RGD_ID:11040925 8855293 Fga fibrinogen alpha chain gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2603 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:21685370|REF_RGD_ID:7175292 8855293 Fga fibrinogen alpha chain gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 8855293 Fga fibrinogen alpha chain gene DOID:9007096 Stroke ISO RGD:737209 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 8855293 Fga fibrinogen alpha chain gene DOID:9007364 Mouth Neoplasms ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16239339 8855293 Fga fibrinogen alpha chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974703 8855293 Fga fibrinogen alpha chain gene DOID:9007730 Burns ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20664819|REF_RGD_ID:5131457 8855293 Fga fibrinogen alpha chain gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:737209 D RGD:9068941 20200609 RGD PMID:21887273|REF_RGD_ID:5688767 8855293 Fga fibrinogen alpha chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:737209 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 8855293 Fga fibrinogen alpha chain gene DOID:9477 pulmonary embolism ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:blood microparticle PMID:22014850|REF_RGD_ID:5688769 8855293 Fga fibrinogen alpha chain gene DOID:9477 pulmonary embolism ISO RGD:737209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910940 8855293 Fga fibrinogen alpha chain gene DOID:9675 pulmonary emphysema ISO RGD:2603 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20949089|REF_RGD_ID:11040553 8855293 Fga fibrinogen alpha chain gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737209 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:25317080|REF_RGD_ID:11040558 8855312 Crygn crystallin gamma N gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1318382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8855312 Crygn crystallin gamma N gene DOID:2843 long QT syndrome ISO RGD:1318382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8855312 Crygn crystallin gamma N gene DOID:630 genetic disease ISO RGD:1318382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855321 Pgm5 phosphoglucomutase 5 gene DOID:630 genetic disease ISO RGD:1346061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855321 Pgm5 phosphoglucomutase 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8855336 Dynll1 dynein light chain LC8-type 1 gene DOID:0060319 cardiac arrest ISO RGD:619866 D RGD:9068941 20200609 RGD PMID:9522364|REF_RGD_ID:13208524 8855336 Dynll1 dynein light chain LC8-type 1 gene DOID:0080600 COVID-19 ISO RGD:731010 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8855336 Dynll1 dynein light chain LC8-type 1 gene DOID:10763 hypertension treatment ISO RGD:619866 D RGD:9068941 20200609 RGD PMID:24035314|REF_RGD_ID:13207430 8855336 Dynll1 dynein light chain LC8-type 1 gene DOID:1875 impotence treatment ISO RGD:619866 D RGD:9068941 20200609 RGD PMID:17433082|REF_RGD_ID:13207433 8855336 Dynll1 dynein light chain LC8-type 1 gene DOID:2316 brain ischemia ISO RGD:731010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9522364 8855336 Dynll1 dynein light chain LC8-type 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:619866 D RGD:9068941 20200609 RGD PMID:9522364|REF_RGD_ID:13208524 8855336 Dynll1 dynein light chain LC8-type 1 gene DOID:6000 congestive heart failure ISO RGD:619866 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus PMID:23832698|REF_RGD_ID:7257598 8855358 Nucks1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:0060224 atrial fibrillation ISO RGD:736162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8855358 Nucks1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8855358 Nucks1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:12849 autistic disorder ISO RGD:736162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8855358 Nucks1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8855358 Nucks1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:630 genetic disease ISO RGD:736162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855358 Nucks1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8855358 Nucks1 nuclear casein kinase and cyclin dependent kinase substrate 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350455 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:19073330|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23562761|PMID:24642831|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27290639|PMID:27344648|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:31019026|PMID:31589614|PMID:31665838|PMID:31687339|PMID:32020600|PMID:32123317|PMID:32180488|PMID:32348839|PMID:33083013|PMID:33182419|PMID:34134969|PMID:34645491|PMID:34716721|PMID:34740920|PMID:34807224|PMID:35482023|PMID:35482246|PMID:35586607|PMID:36462614|PMID:36757698|PMID:9536098 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1350455 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:10080174|PMID:11349233|PMID:11494300|PMID:17576681|PMID:19073330|PMID:20818383|PMID:22644603|PMID:23562761|PMID:24642831|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27344648|PMID:28492532|PMID:29948731|PMID:30090137|PMID:31589614|PMID:31665838|PMID:32180488|PMID:33083013|PMID:33182419|PMID:34134969|PMID:34645491|PMID:34716721|PMID:35482023|PMID:35482246|PMID:9536098 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0112082 nuclear type mitochondrial complex I deficiency 4 ISO RGD:1350455 D RGD:7240710 20190315 OMIM 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:0112082 nuclear type mitochondrial complex I deficiency 4 ISO RGD:1350455 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | ClinVar Annotator: match by term: NDUFV1-Related Disorders | ClinVar Annotator: match by term: NDUFV1-related condition PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:19073330|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23266820|PMID:23334465|PMID:23562761|PMID:23631824|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28454995|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:30770271|PMID:31589614|PMID:31665838|PMID:32180488|PMID:32445240|PMID:33083013|PMID:33182419|PMID:33258288|PMID:34134969|PMID:34645491|PMID:34716721|PMID:34807224|PMID:34906502|PMID:35482023|PMID:35482246|PMID:35586607|PMID:9536098 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:1059 intellectual disability ISO RGD:1350455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:3652 Leigh disease ISO RGD:1350455 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23334465|PMID:23562761|PMID:23596069|PMID:23631824|PMID:24642831|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:31589614|PMID:31665838|PMID:31687339|PMID:32123317|PMID:32348839|PMID:33083013|PMID:33258288|PMID:34134969|PMID:34716721|PMID:34740920|PMID:34807224|PMID:35482246|PMID:35586607|PMID:9536098 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:630 genetic disease ISO RGD:1350455 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10080174|PMID:11349233|PMID:20153825|PMID:25741868|PMID:28454995|PMID:28492532|PMID:34906502 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:8398 osteoarthritis ISO RGD:1350455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1350455 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:10080174|PMID:11349233|PMID:11494300|PMID:14662656|PMID:15576045|PMID:17576681|PMID:20818383|PMID:21364701|PMID:21696386|PMID:22644603|PMID:23334465|PMID:23562761|PMID:23631824|PMID:25615419|PMID:25741868|PMID:26024641|PMID:26345448|PMID:27126960|PMID:27344648|PMID:28492532|PMID:29353736|PMID:29948731|PMID:29976978|PMID:30090137|PMID:31589614|PMID:31665838|PMID:33083013|PMID:33258288|PMID:34134969|PMID:34716721|PMID:34807224|PMID:35482246|PMID:35586607|PMID:9536098 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9000918 Disease Progression ISO RGD:1350455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1350455 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8855373 Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1350455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8855390 Arsl arylsulfatase L gene DOID:0060041 autism spectrum disorder ISO RGD:14265589 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8855390 Arsl arylsulfatase L gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1312633 D RGD:7240710 20181017 OMIM 8855390 Arsl arylsulfatase L gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1312633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 PMID:12567415|PMID:1557308|PMID:16199547|PMID:16937129|PMID:17576681|PMID:18348268|PMID:18414213|PMID:20301713|PMID:20523025|PMID:20598055|PMID:23462608|PMID:23470839|PMID:24033266|PMID:25741868|PMID:2722194|PMID:28257906|PMID:28492532|PMID:29565423|PMID:32860008|PMID:7720070|PMID:9409863|PMID:9497243|PMID:9536098|PMID:9863597 8855390 Arsl arylsulfatase L gene DOID:12849 autistic disorder ISO RGD:1312633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8855390 Arsl arylsulfatase L gene DOID:2581 chondrodysplasia punctata susceptibility ISO RGD:1312633 D RGD:9068941 20200609 RGD PMID:9409863|REF_RGD_ID:1599238 8855390 Arsl arylsulfatase L gene DOID:630 genetic disease ISO RGD:1312633 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8855390 Arsl arylsulfatase L gene DOID:65 connective tissue disease ISO RGD:1312633 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:25741868|PMID:28492532 8855390 Arsl arylsulfatase L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8855409 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 8855409 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0110137 Bardet-Biedl syndrome 15 ISO RGD:1603046 D RGD:7240710 20180130 OMIM 8855409 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0110137 Bardet-Biedl syndrome 15 ISO RGD:1603046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 PMID:16199547|PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:32860008|PMID:9536098 8855409 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603046 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868|PMID:27158779|PMID:28492532 8855409 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly ISO RGD:1603046 D RGD:7240710 20180130 OMIM 8855409 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly ISO RGD:1603046 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome | ClinVar Annotator: match by term: WDPCP-related condition PMID:16199547|PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:29588463|PMID:33046855|PMID:9536098 8855409 Wdpcp WD repeat containing planar cell polarity effector gene DOID:0112222 developmental and epileptic encephalopathy 88 ISO RGD:1603046 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 PMID:31538237 8855409 Wdpcp WD repeat containing planar cell polarity effector gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603046 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16199547|PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25640679|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:29588463|PMID:32483926|PMID:33046855|PMID:9536098 8855409 Wdpcp WD repeat containing planar cell polarity effector gene DOID:4501 orofaciodigital syndrome ISO RGD:1603046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome PMID:17576681|PMID:20671153|PMID:25326635|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28289185|PMID:28492532|PMID:9536098 8855409 Wdpcp WD repeat containing planar cell polarity effector gene DOID:630 genetic disease ISO RGD:1603046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20671153|PMID:25427950|PMID:25741868|PMID:27158779|PMID:28492532|PMID:33046855 8855451 Psma8 proteasome 20S subunit alpha 8 gene DOID:1059 intellectual disability ISO RGD:1349882 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: intellectual disabilities 8855451 Psma8 proteasome 20S subunit alpha 8 gene DOID:630 genetic disease ISO RGD:1349882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855464 Ube2q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1605308 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia PMID:25741868 8855464 Ube2q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:2717 Bloom syndrome ISO RGD:1605308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8855464 Ube2q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:5419 schizophrenia ISO RGD:1605308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8855464 Ube2q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:630 genetic disease ISO RGD:1605308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855464 Ube2q2 ubiquitin conjugating enzyme E2 Q2 gene DOID:9256 colorectal cancer ISO RGD:1605308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8855487 Cmpk2 cytidine/uridine monophosphate kinase 2 gene DOID:2377 multiple sclerosis ISO RGD:1602074 D RGD:9068941 20200609 RGD mRNA:altered expression:PMN cell (human) PMID:20136355|REF_RGD_ID:5133255 8855487 Cmpk2 cytidine/uridine monophosphate kinase 2 gene DOID:630 genetic disease ISO RGD:1602074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855500 Bag6 BAG cochaperone 6 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:733092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia PMID:31474318 8855500 Bag6 BAG cochaperone 6 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:733092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8855500 Bag6 BAG cochaperone 6 gene DOID:11372 megacolon ISO RGD:733092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8855500 Bag6 BAG cochaperone 6 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:733092 D RGD:9068941 20200609 RGD DNA:SNP: :rs3117582(human) PMID:25884493|REF_RGD_ID:14390136 8855500 Bag6 BAG cochaperone 6 gene DOID:630 genetic disease ISO RGD:733092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855500 Bag6 BAG cochaperone 6 gene DOID:8398 osteoarthritis susceptibility ISO RGD:733092 D RGD:9068941 20200609 RGD DNA:SNP: :rs3117582(human) PMID:25231575|REF_RGD_ID:14390133 8855500 Bag6 BAG cochaperone 6 gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:733092 D RGD:9068941 20200609 RGD DNA:haplotype: :rs10484558(human) PMID:25111513|REF_RGD_ID:14390152 8855500 Bag6 BAG cochaperone 6 gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:733092 D RGD:9068941 20200609 RGD PMID:28197361|REF_RGD_ID:14390153 8855559 Sbno2 strawberry notch homolog 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8855559 Sbno2 strawberry notch homolog 2 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1316240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 8855559 Sbno2 strawberry notch homolog 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8855559 Sbno2 strawberry notch homolog 2 gene DOID:630 genetic disease ISO RGD:1316240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:0060825 Christianson syndrome ISO RGD:1352693 D RGD:7240710 20180130 OMIM 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:0060825 Christianson syndrome ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type PMID:15319456|PMID:15358621|PMID:16019685|PMID:16199547|PMID:17576681|PMID:18342287|PMID:18414213|PMID:19471312|PMID:19619532|PMID:20395263|PMID:21465648|PMID:24123876|PMID:24123890|PMID:25044251|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:28492532|PMID:29588952|PMID:32581362|PMID:32776513|PMID:32860008|PMID:9536098 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:0060825 Christianson syndrome ISO RGD:1352693 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE PMID:15319456|PMID:15358621|PMID:16019685|PMID:16199547|PMID:17576681|PMID:18342287|PMID:18414213|PMID:19471312|PMID:19619532|PMID:20395263|PMID:21465648|PMID:24123876|PMID:24123890|PMID:25044251|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:27854218|PMID:28492532|PMID:29588952|PMID:32581362|PMID:32776513|PMID:32860008|PMID:9536098 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:0060825 Christianson syndrome ISO RGD:1352693 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE PMID:15319456|PMID:15358621|PMID:16019685|PMID:16199547|PMID:17576681|PMID:18342287|PMID:18414213|PMID:19471312|PMID:19619532|PMID:20395263|PMID:21465648|PMID:24123876|PMID:24123890|PMID:25044251|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:27854218|PMID:28492532|PMID:29275387|PMID:29588952|PMID:32581362|PMID:32776513|PMID:32860008|PMID:34797406|PMID:35032046|PMID:35334527|PMID:9536098 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:1059 intellectual disability ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:27256868|PMID:28492532 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:11782 astigmatism ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:12849 autistic disorder ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:630 genetic disease ISO RGD:1352693 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19471312|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27256868|PMID:27854218|PMID:28492532 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1352693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8855587 Slc9a6 solute carrier family 9 member A6 gene DOID:9008086 Developmental Disabilities ISO RGD:1352693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32581362|PMID:32860008 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:0080600 COVID-19 ISO RGD:1351878 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of the membranes PMID:15367487 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:1059 intellectual disability ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:12704 ataxia telangiectasia ISO RGD:1351878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1351878 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:1612 breast cancer disease_progression ISO RGD:1351878 D RGD:9068941 20200609 RGD DNA:SNP:promoter:minor (T) allele of rs11225395 associated with reduced lymph node metastasis, reduced relapse and greater disease-free survival (p=0.02) PMID:17974962|REF_RGD_ID:2298553 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:1612 breast cancer disease_progression ISO RGD:1351878 D RGD:9068941 20200609 RGD protein:increased expression:plasma:levels higher in patients with moderate lymph node involvement relative to controls and patients with no involvement (p=0.001) PMID:18366705|REF_RGD_ID:2298552 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:1909 melanoma ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19330028 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:14602136|REF_RGD_ID:2306084 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:2773 contact dermatitis ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:2871 endometrial carcinoma ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:10502722|REF_RGD_ID:2306086 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:2957 pulmonary tuberculosis ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24890593 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:3407 carotid artery disease ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:16339461|REF_RGD_ID:1582626 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:3454 brain infarction ISO RGD:631408 D RGD:9068941 20230527 RGD mRNA:increased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:6000 congestive heart failure disease_progression ISO RGD:631408 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle (rat) PMID:10773235|REF_RGD_ID:1582587 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:630 genetic disease ISO RGD:1351878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1351878 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, serum (human) PMID:15194590|REF_RGD_ID:7207131 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:7693 abdominal aortic aneurysm severity ISO RGD:1351878 D RGD:9068941 20200609 RGD PMID:16432074|REF_RGD_ID:1582641 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:8398 osteoarthritis ISO RGD:1351878 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, serum (human) PMID:15194590|REF_RGD_ID:7207131 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:850 lung disease ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15057751 8855615 Mmp8 matrix metallopeptidase 8 gene DOID:9001600 Wounds and Injuries ISO RGD:1351878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11172683 8855631 Ccdc60 coiled-coil domain containing 60 gene DOID:630 genetic disease ISO RGD:1602176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855668 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1317371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8855668 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1317371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8855668 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:0111254 glutaric acidemia I ISO RGD:1317371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8855668 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:10283 prostate cancer ISO RGD:1317371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8855668 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:3413 alpha-mannosidosis ISO RGD:1317371 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8855668 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:630 genetic disease ISO RGD:1317371 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855668 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:9008315 Dilated Cardiomyopathy 2H ISO RGD:1317371 D RGD:7240710 20230125 OMIM 8855668 Get3 guided entry of tail-anchored proteins factor 3, ATPase gene DOID:9008315 Dilated Cardiomyopathy 2H ISO RGD:1317371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2H PMID:31461301 8855679 Lrrc74b leucine rich repeat containing 74B gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602795 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8855679 Lrrc74b leucine rich repeat containing 74B gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1602795 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8855679 Lrrc74b leucine rich repeat containing 74B gene DOID:11198 DiGeorge syndrome ISO RGD:1602795 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 8855679 Lrrc74b leucine rich repeat containing 74B gene DOID:12583 velocardiofacial syndrome ISO RGD:1602795 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8855679 Lrrc74b leucine rich repeat containing 74B gene DOID:12849 autistic disorder ISO RGD:1602795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8855679 Lrrc74b leucine rich repeat containing 74B gene DOID:5419 schizophrenia ISO RGD:1602795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8855693 Tcf23 transcription factor 23 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8855693 Tcf23 transcription factor 23 gene DOID:630 genetic disease ISO RGD:1606698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855712 Slc7a2 solute carrier family 7 member 2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:68562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8855712 Slc7a2 solute carrier family 7 member 2 gene DOID:2661 myoepithelioma ISO RGD:68562 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8855712 Slc7a2 solute carrier family 7 member 2 gene DOID:630 genetic disease ISO RGD:68562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855738 LOC102025166 HLA class II histocompatibility antigen, DO alpha chain gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1342704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8855738 LOC102025166 HLA class II histocompatibility antigen, DO alpha chain gene DOID:0080820 occupational asthma treatment ISO RGD:1342704 D RGD:9068941 20200609 RGD DNA:SNP: :rs3128935(human) PMID:24709764|REF_RGD_ID:13506912 8855738 LOC102025166 HLA class II histocompatibility antigen, DO alpha chain gene DOID:409 liver disease ISO RGD:3477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8855738 LOC102025166 HLA class II histocompatibility antigen, DO alpha chain gene DOID:9005539 Familial Prostate Cancer ISO RGD:1342704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8855751 Ppp1r27 protein phosphatase 1 regulatory subunit 27 gene DOID:630 genetic disease ISO RGD:1346366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855770 Mroh7 maestro heat like repeat family member 7 gene DOID:630 genetic disease ISO RGD:1605524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:736402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:14701 propionic acidemia ISO RGD:736402 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:1561 cognitive disorder ISO RGD:736402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:303 substance-related disorder ISO RGD:736402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:5295 intestinal disease ISO RGD:736402 D RGD:9068941 20200609 RGD primary bile acid malabsorption; DNA:point mutation:exon:L243P, T262M PMID:9109432|REF_RGD_ID:1624186 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:630 genetic disease ISO RGD:736402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:863 nervous system disease ISO RGD:736402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:9002661 Diabetes Complications ISO RGD:736402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:9003880 Primary Bile Acid Malabsorption ISO RGD:736402 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary PMID:28492532 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:9007940 Primary Bile Acid Malabsorption 1 ISO RGD:736402 D RGD:7240710 20210825 OMIM 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:9007940 Primary Bile Acid Malabsorption 1 ISO RGD:736402 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bile acid malabsorption, primary, 1 | ClinVar Annotator: match by term: SLC10A2-related condition PMID:19823678|PMID:25741868|PMID:28492532|PMID:30919572|PMID:34192422 8855798 Slc10a2 solute carrier family 10 member 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:736402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 8855809 Tmem38a transmembrane protein 38A gene DOID:0080600 COVID-19 ISO RGD:1351909 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8855809 Tmem38a transmembrane protein 38A gene DOID:630 genetic disease ISO RGD:1351909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855819 Lcnl1 lipocalin like 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8855819 Lcnl1 lipocalin like 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1601788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8855819 Lcnl1 lipocalin like 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1601788 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8855819 Lcnl1 lipocalin like 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8855819 Lcnl1 lipocalin like 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1601788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8855819 Lcnl1 lipocalin like 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1601788 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8855819 Lcnl1 lipocalin like 1 gene DOID:0080600 COVID-19 ISO RGD:1601788 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8855819 Lcnl1 lipocalin like 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8855819 Lcnl1 lipocalin like 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1601788 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8855819 Lcnl1 lipocalin like 1 gene DOID:1826 epilepsy ISO RGD:1601788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8855819 Lcnl1 lipocalin like 1 gene DOID:3652 Leigh disease ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8855819 Lcnl1 lipocalin like 1 gene DOID:630 genetic disease ISO RGD:1601788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855819 Lcnl1 lipocalin like 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1601788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8855845 Neu1 neuraminidase 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:735984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8855845 Neu1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISO RGD:735984 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis PMID:10767332|PMID:10944856|PMID:11063730|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:28492532|PMID:30941624|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 8855845 Neu1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISO RGD:735984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:19568825|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:26141460|PMID:28492532|PMID:29018767|PMID:29414417|PMID:30023283|PMID:30941624|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098 8855845 Neu1 neuraminidase 1 gene DOID:3343 glycoproteinosis ISO RGD:735984 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16361247|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:19568825|PMID:20706754|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25600812|PMID:25741868|PMID:26141460|PMID:28492532|PMID:29018767|PMID:29414417|PMID:30023283|PMID:30548430|PMID:30941624|PMID:31711734|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33121223|PMID:33502066|PMID:34421504|PMID:34992946|PMID:35036219|PMID:9054950|PMID:9536098 8855845 Neu1 neuraminidase 1 gene DOID:630 genetic disease ISO RGD:735984 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21214877|PMID:24767253|PMID:25153125|PMID:25323282|PMID:25741868|PMID:27848944|PMID:27942463|PMID:28492532 8855845 Neu1 neuraminidase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:735984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 8855845 Neu1 neuraminidase 1 gene DOID:9008118 Neuraminidase Deficiency ISO RGD:735984 D RGD:7240710 20180130 OMIM 8855845 Neu1 neuraminidase 1 gene DOID:9008118 Neuraminidase Deficiency ISO RGD:735984 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16361247|PMID:16538002|PMID:17576681|PMID:19415310|PMID:19568825|PMID:20706754|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25600812|PMID:25741868|PMID:26141460|PMID:28492532|PMID:32453490|PMID:32485644|PMID:33121223|PMID:33502066|PMID:34421504|PMID:34992946|PMID:35036219|PMID:9054950|PMID:9536098 8855845 Neu1 neuraminidase 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:735984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal edema 8855856 Gnpda2 glucosamine-6-phosphate deaminase 2 gene DOID:630 genetic disease ISO RGD:1313596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855856 Gnpda2 glucosamine-6-phosphate deaminase 2 gene DOID:9007633 Body Weight ISO RGD:1313596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 8855856 Gnpda2 glucosamine-6-phosphate deaminase 2 gene DOID:9970 obesity ISO RGD:1313596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 8855875 Card10 caspase recruitment domain family member 10 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1312685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8855875 Card10 caspase recruitment domain family member 10 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1312685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8855875 Card10 caspase recruitment domain family member 10 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1312685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8855875 Card10 caspase recruitment domain family member 10 gene DOID:1070 primary open angle glaucoma ISO RGD:1312685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:27896285 8855875 Card10 caspase recruitment domain family member 10 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8855875 Card10 caspase recruitment domain family member 10 gene DOID:630 genetic disease ISO RGD:1312685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855875 Card10 caspase recruitment domain family member 10 gene DOID:9006139 Immunodeficiency 89 and Autoimmunity ISO RGD:1312685 D RGD:7240710 20211201 OMIM 8855875 Card10 caspase recruitment domain family member 10 gene DOID:9006139 Immunodeficiency 89 and Autoimmunity ISO RGD:1312685 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Immunodeficiency 89 and autoimmunity PMID:25741868|PMID:32238915 8855899 Rell2 RELT like 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313209 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8855899 Rell2 RELT like 2 gene DOID:630 genetic disease ISO RGD:1313209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855899 Rell2 RELT like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8855899 Rell2 RELT like 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313209 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8855920 Sgo2 shugoshin 2 gene DOID:630 genetic disease ISO RGD:1318224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855920 Sgo2 shugoshin 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1318224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8855920 Sgo2 shugoshin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8855920 Sgo2 shugoshin 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1318224 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8855937 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:10652 Alzheimer's disease ISO RGD:1316600 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (human) PMID:24023061|REF_RGD_ID:10448959 8855937 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8855937 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8855937 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:2340 craniosynostosis ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8855937 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:630 genetic disease ISO RGD:1316600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8855937 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:65 connective tissue disease ISO RGD:1316600 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 8855937 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8855937 Snrpa small nuclear ribonucleoprotein polypeptide A gene DOID:9269 maple syrup urine disease ISO RGD:1316600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8855956 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:24218364|PMID:25118025|PMID:27270108 8855956 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:0111251 Parkinson's disease 21 ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 21 PMID:24218364|PMID:25118025|PMID:27270108|PMID:28492532 8855956 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:12712 nephronophthisis ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 8855956 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:14330 Parkinson's disease ISO RGD:1317589 D RGD:9068941 20200609 RGD PMID:25701813|REF_RGD_ID:10450845 8855956 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:4990 essential tremor ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:24218364|PMID:25118025|PMID:27270108 8855956 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:630 genetic disease ISO RGD:1317589 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8855956 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:8725 vascular dementia ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 8855956 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8855956 Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 gene DOID:9270 alkaptonuria ISO RGD:1317589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8856017 Nucb2 nucleobindin 2 gene DOID:0050741 alcohol dependence ISO RGD:620888 D RGD:9068941 20240127 RGD mRNA,protein:decreased expression:hippocampus PMID:37031608|REF_RGD_ID:401959603 8856017 Nucb2 nucleobindin 2 gene DOID:1059 intellectual disability ISO RGD:734220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8856017 Nucb2 nucleobindin 2 gene DOID:630 genetic disease ISO RGD:734220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856017 Nucb2 nucleobindin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8856017 Nucb2 nucleobindin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620888 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas: PMID:20032201|REF_RGD_ID:9831177 8856017 Nucb2 nucleobindin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734220 D RGD:9068941 20200609 RGD mRNA:decreased expression:islet of Langerhans: PMID:22108805|REF_RGD_ID:9831161 8856017 Nucb2 nucleobindin 2 gene DOID:9970 obesity ISO RGD:620888 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue: PMID:22641054|REF_RGD_ID:9831187 8856041 Ptprn protein tyrosine phosphatase receptor type N gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8856041 Ptprn protein tyrosine phosphatase receptor type N gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8856041 Ptprn protein tyrosine phosphatase receptor type N gene DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 PMID:28492532 8856041 Ptprn protein tyrosine phosphatase receptor type N gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8856041 Ptprn protein tyrosine phosphatase receptor type N gene DOID:1148 polydactyly ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8856041 Ptprn protein tyrosine phosphatase receptor type N gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8856041 Ptprn protein tyrosine phosphatase receptor type N gene DOID:630 genetic disease ISO RGD:734153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856041 Ptprn protein tyrosine phosphatase receptor type N gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8856041 Ptprn protein tyrosine phosphatase receptor type N gene DOID:9005643 Experimental Diabetes Mellitus severity ISO RGD:734154 D RGD:9068941 20200609 RGD PMID:19513530|REF_RGD_ID:2313594 8856041 Ptprn protein tyrosine phosphatase receptor type N gene DOID:9744 type 1 diabetes mellitus ISO RGD:620777 D RGD:9068941 20200609 RGD PMID:7568143|REF_RGD_ID:729710 8856041 Ptprn protein tyrosine phosphatase receptor type N gene DOID:9744 type 1 diabetes mellitus ISO RGD:734153 D RGD:9068941 20200609 RGD PMID:19741189|REF_RGD_ID:2313289 8856090 Plat plasminogen activator, tissue type gene DOID:0060046 aphasia ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12690208 8856090 Plat plasminogen activator, tissue type gene DOID:0060318 acute promyelocytic leukemia ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:leukocyte (human) PMID:10861807|REF_RGD_ID:11541060 8856090 Plat plasminogen activator, tissue type gene DOID:0060573 von Willebrand's disease 1 treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:1419807|REF_RGD_ID:11552591 8856090 Plat plasminogen activator, tissue type gene DOID:0060903 thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12677255|PMID:19348381|PMID:2123154|PMID:22352330 8856090 Plat plasminogen activator, tissue type gene DOID:0090039 torsion dystonia 6 ISO RGD:736468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 8856090 Plat plasminogen activator, tissue type gene DOID:0111959 immunodeficiency 15B ISO RGD:736468 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8856090 Plat plasminogen activator, tissue type gene DOID:10554 meningoencephalitis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1430592 8856090 Plat plasminogen activator, tissue type gene DOID:10763 hypertension ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 8856090 Plat plasminogen activator, tissue type gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9543574|REF_RGD_ID:11541055 8856090 Plat plasminogen activator, tissue type gene DOID:11162 respiratory failure ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25331496 8856090 Plat plasminogen activator, tissue type gene DOID:11247 disseminated intravascular coagulation ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23726093|REF_RGD_ID:11541052 8856090 Plat plasminogen activator, tissue type gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:3342 D RGD:9068941 20200609 RGD associated with Jaundice, Obstructive PMID:1425827|REF_RGD_ID:11541087 8856090 Plat plasminogen activator, tissue type gene DOID:11446 sciatic neuropathy ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:18716863|REF_RGD_ID:6483827 8856090 Plat plasminogen activator, tissue type gene DOID:115 cardiac tamponade ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9633741 8856090 Plat plasminogen activator, tissue type gene DOID:11713 diabetic angiopathy ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18945481|REF_RGD_ID:2311663 8856090 Plat plasminogen activator, tissue type gene DOID:11714 gestational diabetes ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:17259140|REF_RGD_ID:2311668 8856090 Plat plasminogen activator, tissue type gene DOID:118 pericardial effusion ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9633741 8856090 Plat plasminogen activator, tissue type gene DOID:11847 coronary thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1452937|PMID:15301905|PMID:8172379 8856090 Plat plasminogen activator, tissue type gene DOID:12134 factor VIII deficiency treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:1419807|REF_RGD_ID:11552591 8856090 Plat plasminogen activator, tissue type gene DOID:1247 blood coagulation disease ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:1420814|REF_RGD_ID:11541080 8856090 Plat plasminogen activator, tissue type gene DOID:12554 hemolytic-uremic syndrome ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Escherichia coli Infections;protein:increased expression:plasma (human) PMID:11777999|REF_RGD_ID:11541069 8856090 Plat plasminogen activator, tissue type gene DOID:13100 intracranial vasospasm ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19057314|PMID:29651748 8856090 Plat plasminogen activator, tissue type gene DOID:1461 cholesterol embolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7939511 8856090 Plat plasminogen activator, tissue type gene DOID:1558 angioedema ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16184341|PMID:18453163|PMID:20547619 8856090 Plat plasminogen activator, tissue type gene DOID:1824 status epilepticus ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:17040480|REF_RGD_ID:6484215 8856090 Plat plasminogen activator, tissue type gene DOID:1936 atherosclerosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12677255 8856090 Plat plasminogen activator, tissue type gene DOID:2213 hemorrhagic disease ISO RGD:736468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8856090 Plat plasminogen activator, tissue type gene DOID:224 transient cerebral ischemia ISO RGD:3342 D RGD:9068941 20200609 RGD Protein:increased expression, increased activity:hippocampus (rat) PMID:15882815|REF_RGD_ID:1580875 8856090 Plat plasminogen activator, tissue type gene DOID:2316 brain ischemia ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10572812|PMID:11108748|PMID:11940547|PMID:12221155|PMID:12511774|PMID:14986460|PMID:15017018|PMID:15087567|PMID:16126134|PMID:16763187|PMID:16809570|PMID:17086147|PMID:17525387|PMID:17903870|PMID:20123226|PMID:20212195|PMID:20488584|PMID:20536612|PMID:21037505|PMID:23876515|PMID:7477192|PMID:9259745|PMID:9400355|PMID:9479658|PMID:9566367|PMID:9633741 8856090 Plat plasminogen activator, tissue type gene DOID:2316 brain ischemia no_association ISO RGD:736468 D RGD:9068941 20200609 RGD DNA:polymorphism:-7351C>T (human) PMID:16179568|REF_RGD_ID:1580879 8856090 Plat plasminogen activator, tissue type gene DOID:2945 severe acute respiratory syndrome ISO RGD:736468 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:16274108|REF_RGD_ID:30309949 8856090 Plat plasminogen activator, tissue type gene DOID:2988 antiphospholipid syndrome ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:16320350|REF_RGD_ID:1580877 8856090 Plat plasminogen activator, tissue type gene DOID:3021 acute kidney failure ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9767551|REF_RGD_ID:11541071 8856090 Plat plasminogen activator, tissue type gene DOID:3042 allergic contact dermatitis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8856090 Plat plasminogen activator, tissue type gene DOID:3454 brain infarction ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16190367 8856090 Plat plasminogen activator, tissue type gene DOID:3490 Noonan syndrome ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:20686427|REF_RGD_ID:13207331 8856090 Plat plasminogen activator, tissue type gene DOID:3525 middle cerebral artery infarction ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:14512838|REF_RGD_ID:1580876 8856090 Plat plasminogen activator, tissue type gene DOID:3525 middle cerebral artery infarction ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12297567|PMID:17690543|PMID:18453163|PMID:20547619|PMID:29651748 8856090 Plat plasminogen activator, tissue type gene DOID:3526 cerebral infarction ISO RGD:736468 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1579960|PMID:16148626|PMID:18195371|PMID:18544249|PMID:1899364|PMID:9183334 8856090 Plat plasminogen activator, tissue type gene DOID:3602 toxic encephalopathy ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19442825 8856090 Plat plasminogen activator, tissue type gene DOID:3650 lactic acidosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25331496 8856090 Plat plasminogen activator, tissue type gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736468 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:16733850|REF_RGD_ID:11541045 8856090 Plat plasminogen activator, tissue type gene DOID:4193 intracranial thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8678742 8856090 Plat plasminogen activator, tissue type gene DOID:4724 brain edema ISO RGD:3342 D RGD:9068941 20200609 RGD associated with Burns;mRNA:increased expression:brain PMID:18718505|REF_RGD_ID:6483826 8856090 Plat plasminogen activator, tissue type gene DOID:4724 brain edema ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29651748 8856090 Plat plasminogen activator, tissue type gene DOID:5844 myocardial infarction ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10171637|PMID:10505926|PMID:10645301|PMID:10914357|PMID:11382373|PMID:11489769|PMID:12074692|PMID:12227717|PMID:12848087|PMID:1430592|PMID:1492007|PMID:15215796|PMID:15301905|PMID:18195371|PMID:1898952|PMID:1899364|PMID:1900011|PMID:19341228|PMID:20122609|PMID:2104561|PMID:2105625|PMID:2494454|PMID:2505604|PMID:2521976|PMID:3089627|PMID:3121335|PMID:7488445|PMID:7723950|PMID:7775709|PMID:7902905|PMID:8328192|PMID:8554022|PMID:8598594|PMID:9183334 8856090 Plat plasminogen activator, tissue type gene DOID:5844 myocardial infarction ISO RGD:736468 D RGD:9068941 20200609 RGD DNA:snp:enhancer:g.-7351C>T (human) PMID:11848437|REF_RGD_ID:1580881 8856090 Plat plasminogen activator, tissue type gene DOID:5844 myocardial infarction treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:7994806|REF_RGD_ID:11541077 8856090 Plat plasminogen activator, tissue type gene DOID:6000 congestive heart failure ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 8856090 Plat plasminogen activator, tissue type gene DOID:615 leukopenia ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Sepsis;protein:decreased expression:plasma (human) PMID:7646991|REF_RGD_ID:11552575 8856090 Plat plasminogen activator, tissue type gene DOID:630 genetic disease ISO RGD:736468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856090 Plat plasminogen activator, tissue type gene DOID:670 amphetamine abuse ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15659235 8856090 Plat plasminogen activator, tissue type gene DOID:8283 peritonitis ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:18571586|REF_RGD_ID:6484139 8856090 Plat plasminogen activator, tissue type gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:2129164|REF_RGD_ID:11541072 8856090 Plat plasminogen activator, tissue type gene DOID:9000158 Spinal Epidural Hematoma ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10914357|PMID:12227717 8856090 Plat plasminogen activator, tissue type gene DOID:9001268 Embolism and Thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9684808 8856090 Plat plasminogen activator, tissue type gene DOID:9001521 Subdural Hematoma ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1899364 8856090 Plat plasminogen activator, tissue type gene DOID:9001553 Spinal Cord Compression ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12227717 8856090 Plat plasminogen activator, tissue type gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:20035854|REF_RGD_ID:6484134 8856090 Plat plasminogen activator, tissue type gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8856090 Plat plasminogen activator, tissue type gene DOID:9001600 Wounds and Injuries ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:25423126|REF_RGD_ID:11541076 8856090 Plat plasminogen activator, tissue type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8763515 8856090 Plat plasminogen activator, tissue type gene DOID:9002079 Paresis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12690208 8856090 Plat plasminogen activator, tissue type gene DOID:9002165 Diabetic Nephropathies ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16598198|REF_RGD_ID:2311671 8856090 Plat plasminogen activator, tissue type gene DOID:9002314 Acute Traumatic Coagulopathy ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:25676919|REF_RGD_ID:11554180 8856090 Plat plasminogen activator, tissue type gene DOID:9002314 Acute Traumatic Coagulopathy treatment ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:25325345|REF_RGD_ID:11554179 8856090 Plat plasminogen activator, tissue type gene DOID:9002522 Embolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16148626 8856090 Plat plasminogen activator, tissue type gene DOID:9002669 Hypoxia ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25331496 8856090 Plat plasminogen activator, tissue type gene DOID:9002676 Cerebral Hemorrhage ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10501537|PMID:11113218|PMID:11940547|PMID:1430592|PMID:14630814|PMID:1579960|PMID:16126134|PMID:16190367|PMID:16908730|PMID:17690543|PMID:18346647|PMID:18369171|PMID:18753474|PMID:1899364|PMID:19095969|PMID:20212195|PMID:21088392|PMID:22436003|PMID:23876515|PMID:29651748|PMID:7477192|PMID:7723950|PMID:8969996|PMID:9836764 8856090 Plat plasminogen activator, tissue type gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:732079 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:25673638|REF_RGD_ID:11541064 8856090 Plat plasminogen activator, tissue type gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:3342 D RGD:9068941 20200609 RGD human protein in a rat model PMID:12220690|REF_RGD_ID:11537477 8856090 Plat plasminogen activator, tissue type gene DOID:9002906 Multiple Organ Failure ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:16977483|REF_RGD_ID:11081009 8856090 Plat plasminogen activator, tissue type gene DOID:9002955 Nerve Degeneration ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 8856090 Plat plasminogen activator, tissue type gene DOID:9003049 Femur Head Necrosis ISO RGD:736468 D RGD:9068941 20200609 RGD DNA:insertion:intron:IVS8 (human) PMID:24025446|REF_RGD_ID:11541046 8856090 Plat plasminogen activator, tissue type gene DOID:9003104 Intracranial Hemorrhages ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11320361|PMID:12230423|PMID:15017018|PMID:15215796|PMID:15557913|PMID:17612434|PMID:17687131|PMID:17903947|PMID:20123226|PMID:20536612|PMID:2104561|PMID:3168586|PMID:7902905|PMID:8961984 8856090 Plat plasminogen activator, tissue type gene DOID:9003121 Thromboembolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8451030 8856090 Plat plasminogen activator, tissue type gene DOID:9003505 Venous Thromboembolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16167916 8856090 Plat plasminogen activator, tissue type gene DOID:9003646 Arterial Thrombosis ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Antiphospholipid Syndrome PMID:14630788|REF_RGD_ID:11541057 8856090 Plat plasminogen activator, tissue type gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:24806322|REF_RGD_ID:11541078 8856090 Plat plasminogen activator, tissue type gene DOID:9003669 Low Back Pain ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7888893 8856090 Plat plasminogen activator, tissue type gene DOID:9003676 Brain Hypoxia-Ischemia onset ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:18467699|REF_RGD_ID:6483831 8856090 Plat plasminogen activator, tissue type gene DOID:9003736 Central Nervous System Viral Diseases ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum (rat) PMID:19279110|REF_RGD_ID:11537478 8856090 Plat plasminogen activator, tissue type gene DOID:9003814 Neurologic Manifestations ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22436003|PMID:23876515|PMID:29651748 8856090 Plat plasminogen activator, tissue type gene DOID:9003871 Venous Thrombosis ISO RGD:736468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8856090 Plat plasminogen activator, tissue type gene DOID:9004009 Reperfusion Injury ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:15223382|REF_RGD_ID:2311674 8856090 Plat plasminogen activator, tissue type gene DOID:9004009 Reperfusion Injury ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9472885 8856090 Plat plasminogen activator, tissue type gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:11423054|REF_RGD_ID:11541079 8856090 Plat plasminogen activator, tissue type gene DOID:9004484 Sepsis treatment ISO RGD:3342 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 8856090 Plat plasminogen activator, tissue type gene DOID:9005036 Bacteremia ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1430592 8856090 Plat plasminogen activator, tissue type gene DOID:9005700 Airway Obstruction ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25331496 8856090 Plat plasminogen activator, tissue type gene DOID:9005741 Intracranial Embolism and Thrombosis ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7482654|PMID:8427107 8856090 Plat plasminogen activator, tissue type gene DOID:9005930 Endotoxemia treatment ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:9091588|REF_RGD_ID:11541073 8856090 Plat plasminogen activator, tissue type gene DOID:9006024 Hypotension ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1492007 8856090 Plat plasminogen activator, tissue type gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3342 D RGD:9068941 20200609 RGD protein:increased expression:heart right ventricle, heart left ventricle (rat) PMID:9405184|REF_RGD_ID:11080746 8856090 Plat plasminogen activator, tissue type gene DOID:9006182 Carotid Artery Injuries ISO RGD:3342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:carotid artery (rat) PMID:8343497|REF_RGD_ID:11537479 8856090 Plat plasminogen activator, tissue type gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15557913 8856090 Plat plasminogen activator, tissue type gene DOID:9006646 Metabolic Syndrome ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18249307|REF_RGD_ID:2311664 8856090 Plat plasminogen activator, tissue type gene DOID:9006924 Cardiogenic Shock ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1430592 8856090 Plat plasminogen activator, tissue type gene DOID:9007096 Stroke ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10171637|PMID:10346413|PMID:10436095|PMID:10572812|PMID:11061250|PMID:11108748|PMID:11113218|PMID:11239184|PMID:11739841|PMID:11940547|PMID:12221155|PMID:12230423|PMID:12384244|PMID:12511774|PMID:14581697|PMID:14657446|PMID:14986460|PMID:15016487|PMID:15017018|PMID:15087567|PMID:1598096|PMID:16126134|PMID:16184341|PMID:16763187|PMID:16809570|PMID:16908730|PMID:17086147|PMID:17525387|PMID:17612434|PMID:17903870|PMID:17903947|PMID:18346647|PMID:18369171|PMID:18560214|PMID:18753472|PMID:18753474|PMID:19286598|PMID:20123226|PMID:20212195|PMID:20488584|PMID:20536612|PMID:20705933|PMID:2124386|PMID:23876515|PMID:2514002|PMID:25245553|PMID:7477192|PMID:8427107|PMID:8598594|PMID:9056608|PMID:9259745|PMID:9400355|PMID:9472885|PMID:9479657|PMID:9479658|PMID:9566367|PMID:9633741|PMID:9707184|PMID:9836764|PMID:9933289 8856090 Plat plasminogen activator, tissue type gene DOID:9007096 Stroke ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:17689411|PMID:7477192|REF_RGD_ID:2311666|REF_RGD_ID:9698433 8856090 Plat plasminogen activator, tissue type gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22507835 8856090 Plat plasminogen activator, tissue type gene DOID:9007730 Burns ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:11525850|REF_RGD_ID:11541048 8856090 Plat plasminogen activator, tissue type gene DOID:9007923 Back Pain ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12227717 8856090 Plat plasminogen activator, tissue type gene DOID:9008212 Diabetic Foot ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:17275886|REF_RGD_ID:2311669 8856090 Plat plasminogen activator, tissue type gene DOID:9008217 Hemorrhage ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15016487|PMID:15502123|PMID:22507835|PMID:2514002|PMID:8082347|PMID:8427107|PMID:9199818|PMID:9266785 8856090 Plat plasminogen activator, tissue type gene DOID:9008510 Chronic Hepatitis ISO RGD:736468 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:1909901|REF_RGD_ID:11541068 8856090 Plat plasminogen activator, tissue type gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:736468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8856090 Plat plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:3342 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:14693179|REF_RGD_ID:2311675 8856090 Plat plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:3342 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:10899350|REF_RGD_ID:1598920 8856090 Plat plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:732079 D RGD:9068941 20200609 RGD PMID:16038272|REF_RGD_ID:2311672 8856090 Plat plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:16724515|PMID:18235054|REF_RGD_ID:2311665|REF_RGD_ID:2311670 8856090 Plat plasminogen activator, tissue type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736468 D RGD:9068941 20200609 RGD associated with Obesity PMID:15901895|REF_RGD_ID:2311673 8856090 Plat plasminogen activator, tissue type gene DOID:9477 pulmonary embolism ISO RGD:736468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1899825|PMID:19415734|PMID:2123154|PMID:3105914|PMID:3122266|PMID:8082347|PMID:8451030|PMID:9199818|PMID:9266785 8856090 Plat plasminogen activator, tissue type gene DOID:9743 diabetic neuropathy ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:17636064|REF_RGD_ID:2311667 8856090 Plat plasminogen activator, tissue type gene DOID:9744 type 1 diabetes mellitus ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:14652638|REF_RGD_ID:2311676 8856090 Plat plasminogen activator, tissue type gene DOID:9970 obesity ISO RGD:736468 D RGD:9068941 20200609 RGD PMID:12818410|REF_RGD_ID:2311677 8856115 Mmp11 matrix metallopeptidase 11 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:735298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 8856115 Mmp11 matrix metallopeptidase 11 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:735298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 8856115 Mmp11 matrix metallopeptidase 11 gene DOID:1826 epilepsy ISO RGD:735298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8856115 Mmp11 matrix metallopeptidase 11 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10741738 8856115 Mmp11 matrix metallopeptidase 11 gene DOID:5419 schizophrenia ISO RGD:735298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8856115 Mmp11 matrix metallopeptidase 11 gene DOID:630 genetic disease ISO RGD:735298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856115 Mmp11 matrix metallopeptidase 11 gene DOID:9003281 Spontaneous Abortions ISO RGD:735298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8856133 Capn12 calpain 12 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316482 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8856133 Capn12 calpain 12 gene DOID:630 genetic disease ISO RGD:1316482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856133 Capn12 calpain 12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8856184 Kl klotho gene DOID:0050459 hyperphosphatemia ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 8856184 Kl klotho gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:732783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 8856184 Kl klotho gene DOID:10003 sensorineural hearing loss ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:21167925|REF_RGD_ID:10403058 8856184 Kl klotho gene DOID:10584 retinitis pigmentosa ISO RGD:620396 D RGD:9068941 20200609 RGD protein:increased expression:retina,photoreceptor,nucleus: PMID:23796581|REF_RGD_ID:10403060 8856184 Kl klotho gene DOID:10584 retinitis pigmentosa ISO RGD:732784 D RGD:9068941 20200609 RGD protein:increased expression:retina,photoreceptor,nucleus: PMID:23796581|REF_RGD_ID:10403060 8856184 Kl klotho gene DOID:10652 Alzheimer's disease treatment ISO RGD:732784 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:cerebral choroid,serum: PMID:23973442|REF_RGD_ID:10403049 8856184 Kl klotho gene DOID:1074 kidney failure ISO RGD:620396 D RGD:9068941 20200609 RGD PMID:10892340|REF_RGD_ID:1581732 8856184 Kl klotho gene DOID:10763 hypertension ISO RGD:620396 D RGD:9068941 20200609 RGD PMID:10892340|REF_RGD_ID:1581732 8856184 Kl klotho gene DOID:10763 hypertension treatment ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney: PMID:21051829|REF_RGD_ID:10403063 8856184 Kl klotho gene DOID:10763 hypertension treatment ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:23225045|REF_RGD_ID:10403062 8856184 Kl klotho gene DOID:11476 osteoporosis ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 8856184 Kl klotho gene DOID:11476 osteoporosis ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 8856184 Kl klotho gene DOID:1168 familial hyperlipidemia ISO RGD:620396 D RGD:9068941 20200609 RGD PMID:10892340|REF_RGD_ID:1581732 8856184 Kl klotho gene DOID:12466 secondary hyperparathyroidism ISO RGD:620396 D RGD:9068941 20200609 RGD associated with Uremia;mRNA,protein:increased expression:parathyroid gland: PMID:20631679|REF_RGD_ID:10403078 8856184 Kl klotho gene DOID:12678 hypercalcemia ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 8856184 Kl klotho gene DOID:13938 amenorrhea ISO RGD:732783 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:32870266 8856184 Kl klotho gene DOID:182 calcinosis ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 8856184 Kl klotho gene DOID:1936 atherosclerosis ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:11027545|REF_RGD_ID:10403056 8856184 Kl klotho gene DOID:2247 spondylosis susceptibility ISO RGD:732783 D RGD:9068941 20200609 RGD PMID:12110410|REF_RGD_ID:10403053 8856184 Kl klotho gene DOID:2277 gonadal disease ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 8856184 Kl klotho gene DOID:2349 arteriosclerosis ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 8856184 Kl klotho gene DOID:2349 arteriosclerosis ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 8856184 Kl klotho gene DOID:3393 coronary artery disease ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12669274 8856184 Kl klotho gene DOID:3393 coronary artery disease ISO RGD:732783 D RGD:9068941 20200609 RGD PMID:16979405|REF_RGD_ID:1581721 8856184 Kl klotho gene DOID:3393 coronary artery disease ISO RGD:732783 D RGD:9068941 20200806 RGD DNA:SNP:promoter: -G395>A (human) PMID:16579981|REF_RGD_ID:1581723 8856184 Kl klotho gene DOID:37 skin disease ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 8856184 Kl klotho gene DOID:4372 intracranial embolism susceptibility ISO RGD:732783 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-395G>A(human) PMID:16973281|REF_RGD_ID:10403059 8856184 Kl klotho gene DOID:5223 infertility ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 8856184 Kl klotho gene DOID:557 kidney disease ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665422 8856184 Kl klotho gene DOID:630 genetic disease ISO RGD:732783 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32870266|PMID:34906475 8856184 Kl klotho gene DOID:783 end stage renal disease ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:9731228|REF_RGD_ID:10403067 8856184 Kl klotho gene DOID:783 end stage renal disease ISO RGD:732783 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney: PMID:11162628|REF_RGD_ID:10403042 8856184 Kl klotho gene DOID:784 chronic kidney disease ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:renal tubule, epithelial cell: PMID:11967236|REF_RGD_ID:70544 8856184 Kl klotho gene DOID:784 chronic kidney disease ISO RGD:732784 D RGD:9068941 20200609 RGD protein:decreased expression:urine,plasma,kidney: PMID:21115613|REF_RGD_ID:10403077 8856184 Kl klotho gene DOID:784 chronic kidney disease disease_progression ISO RGD:732783 D RGD:9068941 20200609 RGD protein:decreased expression:urine: PMID:21115613|REF_RGD_ID:10403077 8856184 Kl klotho gene DOID:784 chronic kidney disease treatment ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:11967236|REF_RGD_ID:70544 8856184 Kl klotho gene DOID:8927 learning disability ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25309793 8856184 Kl klotho gene DOID:9000099 Experimental Colitis ISO RGD:732784 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:20004202|REF_RGD_ID:10403055 8856184 Kl klotho gene DOID:9001035 Hypercalciuria, Childhood Idiopathic ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20394945 8856184 Kl klotho gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620396 D RGD:9068941 20200609 RGD protein:decreased expression:kidney: PMID:24136780|REF_RGD_ID:10403079 8856184 Kl klotho gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:732783 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,exon:395G>A,2998C>T(human) PMID:18465812|REF_RGD_ID:10403041 8856184 Kl klotho gene DOID:9002644 Premature Aging ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25550330|PMID:9363890 8856184 Kl klotho gene DOID:9002644 Premature Aging ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 8856184 Kl klotho gene DOID:9002884 Emphysema ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9363890 8856184 Kl klotho gene DOID:9002884 Emphysema ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:9363890|REF_RGD_ID:10403047 8856184 Kl klotho gene DOID:9003846 Sinoatrial Block ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:15037532|REF_RGD_ID:1581730 8856184 Kl klotho gene DOID:9003936 Cardiomegaly treatment ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:23225045|REF_RGD_ID:10403062 8856184 Kl klotho gene DOID:9005366 Hyperphosphatemic Familial Tumoral Calcinosis 3 ISO RGD:732783 D RGD:7240710 20190315 OMIM 8856184 Kl klotho gene DOID:9005366 Hyperphosphatemic Familial Tumoral Calcinosis 3 ISO RGD:732783 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 3 PMID:17576681|PMID:17710231|PMID:25741868|PMID:28492532|PMID:29389098|PMID:32870266|PMID:34906475|PMID:9536098 8856184 Kl klotho gene DOID:9006205 Animal Disease Models ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25550330 8856184 Kl klotho gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:renal tubule: PMID:16204278|REF_RGD_ID:10403064 8856184 Kl klotho gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:16204278|REF_RGD_ID:10403064 8856184 Kl klotho gene DOID:9006332 Vascular Calcification ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:21115613|REF_RGD_ID:10403077 8856184 Kl klotho gene DOID:9006646 Metabolic Syndrome ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:11027545|REF_RGD_ID:10403056 8856184 Kl klotho gene DOID:9006646 Metabolic Syndrome ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:11027545|REF_RGD_ID:10403056 8856184 Kl klotho gene DOID:9007094 Hypercalcemia, Infantile, 1 ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20394945 8856184 Kl klotho gene DOID:9007096 Stroke ISO RGD:732783 D RGD:9068941 20200609 RGD PMID:15677572|REF_RGD_ID:1581727 8856184 Kl klotho gene DOID:9007367 Septic Peritonitis disease_progression ISO RGD:732784 D RGD:9068941 20200609 RGD PMID:23364432|REF_RGD_ID:10403048 8856184 Kl klotho gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:732783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:17710231|PMID:25741868|PMID:29389098 8856184 Kl klotho gene DOID:9008023 Memory Disorders ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25309793|PMID:25550330 8856184 Kl klotho gene DOID:9352 type 2 diabetes mellitus ISO RGD:620396 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:23967103|REF_RGD_ID:10044235 8856184 Kl klotho gene DOID:9352 type 2 diabetes mellitus ISO RGD:732783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8856184 Kl klotho gene DOID:9675 pulmonary emphysema ISO RGD:732784 D RGD:9068941 20220825 MouseDO OMIM:130700 8856194 Tmem63b transmembrane protein 63B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314147 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: TMEM63B-associated disorder PMID:25741868|PMID:37421948 8856194 Tmem63b transmembrane protein 63B gene DOID:630 genetic disease ISO RGD:1314147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856231 Rxfp2 relaxin family peptide receptor 2 gene DOID:11383 cryptorchidism ISO RGD:1319797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism PMID:12217959|PMID:12970298|PMID:20636340|PMID:25741868 8856231 Rxfp2 relaxin family peptide receptor 2 gene DOID:1923 disorder of sexual development ISO RGD:1319797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8856231 Rxfp2 relaxin family peptide receptor 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 8856231 Rxfp2 relaxin family peptide receptor 2 gene DOID:630 genetic disease ISO RGD:1319797 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8856266 Lipa lipase A, lysosomal acid type gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:736562 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20557099 8856266 Lipa lipase A, lysosomal acid type gene DOID:0080217 lysosomal acid lipase deficiency ISO RGD:736562 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency PMID:10562460|PMID:10627498|PMID:10746035|PMID:11441129|PMID:16199547|PMID:16255772|PMID:17576681|PMID:18775687|PMID:2129132|PMID:21291321|PMID:21757691|PMID:21963785|PMID:22138108|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23430518|PMID:23485521|PMID:23583223|PMID:24033266|PMID:24048164|PMID:24072694|PMID:24792990|PMID:24832708|PMID:24993530|PMID:25525159|PMID:25620107|PMID:25624737|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:26913919|PMID:27423329|PMID:27624512|PMID:28179030|PMID:28220406|PMID:28374935|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29196158|PMID:29958253|PMID:30270055|PMID:30684275|PMID:31113597|PMID:31131398|PMID:31180157|PMID:3118057|PMID:31182375|PMID:31230978|PMID:31392116|PMID:32041611|PMID:32382506|PMID:7499245|PMID:7751811|PMID:7759067|PMID:7773732|PMID:7833918|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:8864960|PMID:8894696|PMID:9367797|PMID:9536098|PMID:9554751|PMID:9633819|PMID:9684740|PMID:9925650 8856266 Lipa lipase A, lysosomal acid type gene DOID:0080600 COVID-19 ISO RGD:736562 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8856266 Lipa lipase A, lysosomal acid type gene DOID:14497 Wolman disease ISO RGD:736562 D RGD:7240710 20230607 OMIM 8856266 Lipa lipase A, lysosomal acid type gene DOID:14497 Wolman disease ISO RGD:736562 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: CHOLESTEROL ESTER HYDROLASE DEFICIENCY, COMPLETE | ClinVar Annotator: match by term: Wolman disease PMID:1056246|PMID:10562460|PMID:10627498|PMID:10746035|PMID:11441129|PMID:16199547|PMID:16255772|PMID:17576681|PMID:2129132|PMID:21291321|PMID:21757691|PMID:21963785|PMID:22138108|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23430518|PMID:23485521|PMID:23583223|PMID:24048164|PMID:24072694|PMID:24792990|PMID:24832708|PMID:24993530|PMID:25620107|PMID:25624737|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:26913919|PMID:27423329|PMID:27624512|PMID:28179030|PMID:28220406|PMID:28374935|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29196158|PMID:29958253|PMID:30249571|PMID:30270055|PMID:30665623|PMID:30684275|PMID:31113597|PMID:31131398|PMID:31180157|PMID:3118057|PMID:31182375|PMID:31230978|PMID:31392116|PMID:31412917|PMID:32041611|PMID:32382506|PMID:7499245|PMID:7751811|PMID:7759067|PMID:7773732|PMID:7833918|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:8894696|PMID:8956047|PMID:9367797|PMID:9536098|PMID:9554751|PMID:9633819|PMID:9684740|PMID:9925650 8856266 Lipa lipase A, lysosomal acid type gene DOID:14502 cholesterol ester storage disease ISO RGD:736562 D RGD:7240710 20240228 OMIM 8856266 Lipa lipase A, lysosomal acid type gene DOID:14502 cholesterol ester storage disease ISO RGD:736562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cholesteryl ester storage disease PMID:10562460|PMID:16255772|PMID:17576681|PMID:21757691|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23485521|PMID:24072694|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29958253|PMID:30684275|PMID:31182375|PMID:31230978|PMID:31392116|PMID:7499245|PMID:7751811|PMID:7759067|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:9536098|PMID:9684740 8856266 Lipa lipase A, lysosomal acid type gene DOID:3393 coronary artery disease ISO RGD:736562 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:21378988|PMID:34961328|PMID:35590109 8856266 Lipa lipase A, lysosomal acid type gene DOID:630 genetic disease ISO RGD:736562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8856266 Lipa lipase A, lysosomal acid type gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:736562 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 8856266 Lipa lipase A, lysosomal acid type gene DOID:9000784 Fibrosis ISO RGD:736562 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35679793 8856266 Lipa lipase A, lysosomal acid type gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:736562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 8856266 Lipa lipase A, lysosomal acid type gene DOID:9004186 Wolman Disease with Hypolipoproteinemia and Acanthocytosis ISO RGD:736562 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis PMID:10562460|PMID:16255772|PMID:17576681|PMID:21757691|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23485521|PMID:24072694|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26350820|PMID:28492532|PMID:28502505|PMID:28502515|PMID:29196158|PMID:29958253|PMID:31182375|PMID:31392116|PMID:32041611|PMID:7751811|PMID:7759067|PMID:8254026|PMID:8598644|PMID:8617513|PMID:9536098|PMID:9684740 8856282 Tnip1 TNFAIP3 interacting protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8856282 Tnip1 TNFAIP3 interacting protein 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 8856282 Tnip1 TNFAIP3 interacting protein 1 gene DOID:2841 asthma ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 8856282 Tnip1 TNFAIP3 interacting protein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1319697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8856282 Tnip1 TNFAIP3 interacting protein 1 gene DOID:418 systemic scleroderma ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750679 8856282 Tnip1 TNFAIP3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1319697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856282 Tnip1 TNFAIP3 interacting protein 1 gene DOID:8893 psoriasis ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 8856282 Tnip1 TNFAIP3 interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8856282 Tnip1 TNFAIP3 interacting protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8856282 Tnip1 TNFAIP3 interacting protein 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1319697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193|PMID:19838195 8856318 Rwdd3 RWD domain containing 3 gene DOID:630 genetic disease ISO RGD:1314557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856337 Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1604315 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8856337 Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1604315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:25741868|PMID:28492532 8856337 Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 ISO RGD:1604315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 PMID:28492532 8856337 Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:630 genetic disease ISO RGD:1604315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8856337 Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 gene DOID:9004342 Familial Temporal Epilepsy ISO RGD:1604315 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: MICAL1-related Lateral temporal epilepsy PMID:17576681|PMID:28492532|PMID:9536098 8856369 Pold4 DNA polymerase delta 4, accessory subunit gene DOID:1059 intellectual disability ISO RGD:1318336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8856369 Pold4 DNA polymerase delta 4, accessory subunit gene DOID:630 genetic disease ISO RGD:1318336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856369 Pold4 DNA polymerase delta 4, accessory subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1318336 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8856369 Pold4 DNA polymerase delta 4, accessory subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1318336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8856386 Pard3b par-3 family cell polarity regulator beta gene DOID:14557 primary pulmonary hypertension ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8856386 Pard3b par-3 family cell polarity regulator beta gene DOID:5419 schizophrenia ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8856386 Pard3b par-3 family cell polarity regulator beta gene DOID:630 genetic disease ISO RGD:1312545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856386 Pard3b par-3 family cell polarity regulator beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8856428 Rbm23 RNA binding motif protein 23 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1352302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8856428 Rbm23 RNA binding motif protein 23 gene DOID:630 genetic disease ISO RGD:1352302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856428 Rbm23 RNA binding motif protein 23 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1352302 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8856428 Rbm23 RNA binding motif protein 23 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352302 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8856439 Slc28a2 solute carrier family 28 member 2 gene DOID:0050712 AGAT deficiency ISO RGD:732572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8856439 Slc28a2 solute carrier family 28 member 2 gene DOID:2717 Bloom syndrome ISO RGD:732572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8856439 Slc28a2 solute carrier family 28 member 2 gene DOID:630 genetic disease ISO RGD:732572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856439 Slc28a2 solute carrier family 28 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61840 D RGD:9068941 20200609 RGD PMID:16014043|REF_RGD_ID:2317455 8856439 Slc28a2 solute carrier family 28 member 2 gene DOID:9256 colorectal cancer ISO RGD:732572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8856463 Sh3gl2 SH3 domain containing GRB2 like 2, endophilin A1 gene DOID:11832 visual epilepsy ISO RGD:620276 D RGD:9068941 20200609 RGD PMID:14751282|REF_RGD_ID:13464355 8856463 Sh3gl2 SH3 domain containing GRB2 like 2, endophilin A1 gene DOID:630 genetic disease ISO RGD:1343139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856478 Aspa aspartoacylase gene DOID:0111406 Fraser syndrome 3 ISO RGD:1350952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 8856478 Aspa aspartoacylase gene DOID:1059 intellectual disability ISO RGD:1350952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28101991|PMID:28492532|PMID:29453510 8856478 Aspa aspartoacylase gene DOID:3613 Canavan disease ISO RGD:1350952 D RGD:7240710 20180130 OMIM 8856478 Aspa aspartoacylase gene DOID:3613 Canavan disease ISO RGD:1350952 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10407784|PMID:10564886|PMID:10701101|PMID:10704428|PMID:10724099|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:14567959|PMID:15243987|PMID:16138249|PMID:16199547|PMID:16217711|PMID:16437572|PMID:16802711|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:17576681|PMID:17999961|PMID:18070137|PMID:18280251|PMID:18978679|PMID:19685155|PMID:19932039|PMID:20129749|PMID:20301412|PMID:21228398|PMID:21520333|PMID:21907889|PMID:22019069|PMID:22219087|PMID:22468686|PMID:22611636|PMID:22750302|PMID:22850825|PMID:22878930|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:24036223|PMID:25003821|PMID:25107638|PMID:25497124|PMID:25668701|PMID:25741868|PMID:26586007|PMID:26992473|PMID:27102039|PMID:27457812|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:29453510|PMID:31839386|PMID:32403196|PMID:33547378|PMID:34011350|PMID:34316023|PMID:34446995|PMID:7599639|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9452117|PMID:9536098|PMID:9537412|PMID:9887384 8856478 Aspa aspartoacylase gene DOID:3613 Canavan disease susceptibility ISO RGD:1350952 D RGD:9068941 20200609 RGD PMID:8252036|REF_RGD_ID:1599291 8856478 Aspa aspartoacylase gene DOID:630 genetic disease ISO RGD:1350952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10407784|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:16217711|PMID:16437572|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:18070137|PMID:18293939|PMID:20301412|PMID:21228398|PMID:22750302|PMID:22850825|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:27102039|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:34011350|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9537412|PMID:9887384 8856478 Aspa aspartoacylase gene DOID:9000495 Tremor ISO RGD:621693 D RGD:9068941 20200609 RGD associated with Hcn1A354V allele PMID:27026062|REF_RGD_ID:13464274 8856478 Aspa aspartoacylase gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1350952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8856478 Aspa aspartoacylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733059 D RGD:9068941 20200609 RGD protein:increased expression:duodenum, brain PMID:16707098|REF_RGD_ID:1601247 8856478 Aspa aspartoacylase gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1350952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8856500 Mns1 meiosis specific nuclear structural 1 gene DOID:2717 Bloom syndrome ISO RGD:1605067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8856500 Mns1 meiosis specific nuclear structural 1 gene DOID:630 genetic disease ISO RGD:1605067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856500 Mns1 meiosis specific nuclear structural 1 gene DOID:9003544 Visceral Heterotaxy 9, Autosomal ISO RGD:1605067 D RGD:7240710 20200812 OMIM 8856500 Mns1 meiosis specific nuclear structural 1 gene DOID:9003544 Visceral Heterotaxy 9, Autosomal ISO RGD:1605067 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 9, autosomal, with male infertility | ClinVar Annotator: match by term: MNS1-related condition PMID:25741868|PMID:28492532|PMID:30148830|PMID:31534215 8856500 Mns1 meiosis specific nuclear structural 1 gene DOID:9256 colorectal cancer ISO RGD:1605067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8856531 Acoxl acyl-CoA oxidase like gene DOID:630 genetic disease ISO RGD:1315641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856531 Acoxl acyl-CoA oxidase like gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1315641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:0080600 COVID-19 ISO RGD:736125 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:11054 urinary bladder cancer ISO RGD:11248 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder (mouse) PMID:21139803|REF_RGD_ID:5133688 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:11054 urinary bladder cancer ISO RGD:1598310 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder (rat) PMID:21139803|REF_RGD_ID:5133688 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:11054 urinary bladder cancer ISO RGD:736125 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder (human) PMID:21139803|REF_RGD_ID:5133688 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:11612 polycystic ovary syndrome ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:1793 pancreatic cancer ISO RGD:736125 D RGD:9068941 20200609 RGD PMID:19568409|REF_RGD_ID:2324950 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:2870 endometrial adenocarcinoma ISO RGD:1598310 D RGD:9068941 20200609 RGD DNA:amplification (rat) PMID:15942940|REF_RGD_ID:2324953 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:3459 breast carcinoma ISO RGD:736125 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:21556566|REF_RGD_ID:5133696 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:736125 D RGD:9068941 20210604 RGD PMID:19002265|REF_RGD_ID:127229933 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:3910 lung adenocarcinoma ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:630 genetic disease ISO RGD:736125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:684 hepatocellular carcinoma ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230555|PMID:28284560 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:9006205 Animal Disease Models ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8856559 Rrm2 ribonucleotide reductase regulatory subunit M2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 8856572 Aff3 ALF transcription elongation factor 3 gene DOID:0112383 KINSSHIP syndrome ISO RGD:1318349 D RGD:7240710 20210623 OMIM 8856572 Aff3 ALF transcription elongation factor 3 gene DOID:0112383 KINSSHIP syndrome ISO RGD:1318349 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: KINSSHIP syndrome PMID:25741868|PMID:31388108|PMID:33961779 8856572 Aff3 ALF transcription elongation factor 3 gene DOID:303 substance-related disorder ISO RGD:1318349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8856572 Aff3 ALF transcription elongation factor 3 gene DOID:630 genetic disease ISO RGD:1318349 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31388108|PMID:33961779 8856572 Aff3 ALF transcription elongation factor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1318349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 8856621 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1317924 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32215045 8856621 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1317924 D RGD:9068941 20200609 RGD PMID:12907594|REF_RGD_ID:2315107 8856621 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:1612 breast cancer ISO RGD:1317924 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:14639658|REF_RGD_ID:2315106 8856621 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:1984 rectal benign neoplasm ISO RGD:1317924 D RGD:9068941 20200609 RGD mRNA:increased expression:rectum PMID:11568975|REF_RGD_ID:2315108 8856621 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:1317924 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:11568975|REF_RGD_ID:2315108 8856621 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:4450 renal cell carcinoma ISO RGD:1317924 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11568975|REF_RGD_ID:2315108 8856621 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:630 genetic disease ISO RGD:1317924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856621 Pmepa1 prostate transmembrane protein, androgen induced 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8856628 Rbm44 RNA binding motif protein 44 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1625816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8856628 Rbm44 RNA binding motif protein 44 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1625816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8856628 Rbm44 RNA binding motif protein 44 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1625816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8856628 Rbm44 RNA binding motif protein 44 gene DOID:1059 intellectual disability ISO RGD:1625816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8856628 Rbm44 RNA binding motif protein 44 gene DOID:630 genetic disease ISO RGD:1625816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856628 Rbm44 RNA binding motif protein 44 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1625816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8856664 Sh3yl1 SH3 and SYLF domain containing 1 gene DOID:630 genetic disease ISO RGD:1315058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856685 Prkcq protein kinase C theta gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1350580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8856685 Prkcq protein kinase C theta gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8856685 Prkcq protein kinase C theta gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1350580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 8856685 Prkcq protein kinase C theta gene DOID:2018 hyperinsulinism ISO RGD:620968 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:soleus PMID:8826977|REF_RGD_ID:1625605 8856685 Prkcq protein kinase C theta gene DOID:2526 prostate adenocarcinoma ISO RGD:620968 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate PMID:8180127|REF_RGD_ID:1625625 8856685 Prkcq protein kinase C theta gene DOID:5327 retinal detachment ISO RGD:1350580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26978024 8856685 Prkcq protein kinase C theta gene DOID:5327 retinal detachment ISO RGD:1551360 D RGD:9068941 20220825 MouseDO 8856685 Prkcq protein kinase C theta gene DOID:630 genetic disease ISO RGD:1350580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856685 Prkcq protein kinase C theta gene DOID:7148 rheumatoid arthritis ISO RGD:1350580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 8856685 Prkcq protein kinase C theta gene DOID:8778 Crohn's disease ISO RGD:1350580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 8856685 Prkcq protein kinase C theta gene DOID:9004484 Sepsis ISO RGD:620968 D RGD:9068941 20200609 RGD protein:decreased expression:lymphocyte PMID:11735277|REF_RGD_ID:1625613 8856685 Prkcq protein kinase C theta gene DOID:9007692 Insulin Resistance ISO RGD:620968 D RGD:9068941 20200609 RGD associated with Obesity;protein:decreased expression:skeletal muscle PMID:10923637|REF_RGD_ID:1625603 8856685 Prkcq protein kinase C theta gene DOID:9007692 Insulin Resistance ISO RGD:620968 D RGD:9068941 20200609 RGD protein:altered localization:skeletal muscle PMID:9000691|REF_RGD_ID:1625604 8856685 Prkcq protein kinase C theta gene DOID:9008972 Hyperammonemia ISO RGD:620968 D RGD:9068941 20200609 RGD protein:altered localization:neuron PMID:15606904|REF_RGD_ID:1625610 8856685 Prkcq protein kinase C theta gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 8856710 Kdm8 lysine demethylase 8 gene DOID:1612 breast cancer ISO RGD:1602684 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:20457893|REF_RGD_ID:9587844 8856710 Kdm8 lysine demethylase 8 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1602684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:25741868 8856710 Kdm8 lysine demethylase 8 gene DOID:630 genetic disease ISO RGD:1602684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856710 Kdm8 lysine demethylase 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1602684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8856729 Hapln3 hyaluronan and proteoglycan link protein 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1317673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8856729 Hapln3 hyaluronan and proteoglycan link protein 3 gene DOID:2717 Bloom syndrome ISO RGD:1317673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8856729 Hapln3 hyaluronan and proteoglycan link protein 3 gene DOID:630 genetic disease ISO RGD:1317673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856729 Hapln3 hyaluronan and proteoglycan link protein 3 gene DOID:9256 colorectal cancer ISO RGD:1317673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8856738 Upf1 UPF1 RNA helicase and ATPase gene DOID:0050545 visceral heterotaxy ISO RGD:1313946 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: GDF1-related condition PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 8856738 Upf1 UPF1 RNA helicase and ATPase gene DOID:0060772 multiple types of congenital heart defects 6 ISO RGD:1313946 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 8856738 Upf1 UPF1 RNA helicase and ATPase gene DOID:0060856 right atrial isomerism ISO RGD:1313946 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Right atrial isomerism PMID:14648004|PMID:1792434|PMID:17924340|PMID:17936261|PMID:20413652|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32144877 8856738 Upf1 UPF1 RNA helicase and ATPase gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1313946 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 8856738 Upf1 UPF1 RNA helicase and ATPase gene DOID:1059 intellectual disability ISO RGD:1313946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8856738 Upf1 UPF1 RNA helicase and ATPase gene DOID:12849 autistic disorder ISO RGD:1313946 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 8856738 Upf1 UPF1 RNA helicase and ATPase gene DOID:630 genetic disease ISO RGD:1313946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856738 Upf1 UPF1 RNA helicase and ATPase gene DOID:9008582 Developmental Disease ISO RGD:1313946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8856738 Upf1 UPF1 RNA helicase and ATPase gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1313946 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8856765 Kif27 kinesin family member 27 gene DOID:10908 hydrocephalus ISO RGD:1553484 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8856765 Kif27 kinesin family member 27 gene DOID:630 genetic disease ISO RGD:1344489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856806 Tas1r1 taste 1 receptor member 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732021 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8856806 Tas1r1 taste 1 receptor member 1 gene DOID:630 genetic disease ISO RGD:732021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856806 Tas1r1 taste 1 receptor member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8856819 Lyve1 lymphatic vessel endothelial hyaluronan receptor 1 gene DOID:630 genetic disease ISO RGD:1322012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856819 Lyve1 lymphatic vessel endothelial hyaluronan receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8856829 Cd81 CD81 molecule gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8856829 Cd81 CD81 molecule gene DOID:0080773 delta beta-thalassemia ISO RGD:731700 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8856829 Cd81 CD81 molecule gene DOID:0081149 common variable immunodeficiency 6 ISO RGD:731700 D RGD:7240710 20190327 OMIM 8856829 Cd81 CD81 molecule gene DOID:0081149 common variable immunodeficiency 6 ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 PMID:20237408|PMID:25741868|PMID:28492532 8856829 Cd81 CD81 molecule gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8856829 Cd81 CD81 molecule gene DOID:12177 common variable immunodeficiency ISO RGD:731700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8856829 Cd81 CD81 molecule gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8856829 Cd81 CD81 molecule gene DOID:1883 hepatitis C ISO RGD:731700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17517063 8856829 Cd81 CD81 molecule gene DOID:630 genetic disease ISO RGD:731700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8856829 Cd81 CD81 molecule gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8856841 Taf3 TATA-box binding protein associated factor 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1323524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8856841 Taf3 TATA-box binding protein associated factor 3 gene DOID:630 genetic disease ISO RGD:1323524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856865 Rhog ras homolog family member G gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8856865 Rhog ras homolog family member G gene DOID:0060354 Stormorken syndrome ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:28492532 8856865 Rhog ras homolog family member G gene DOID:0080773 delta beta-thalassemia ISO RGD:1316030 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8856865 Rhog ras homolog family member G gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8856865 Rhog ras homolog family member G gene DOID:630 genetic disease ISO RGD:1316030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:9614181 8856874 Tfb2m transcription factor B2, mitochondrial gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1316077 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8856874 Tfb2m transcription factor B2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1316077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8856874 Tfb2m transcription factor B2, mitochondrial gene DOID:630 genetic disease ISO RGD:1316077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856874 Tfb2m transcription factor B2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8856885 Dnaja2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:0111041 glycogen storage disease IXB ISO RGD:732533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 8856885 Dnaja2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:409 liver disease ISO RGD:71001 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:15270078|REF_RGD_ID:4891447 8856885 Dnaja2 DnaJ heat shock protein family (Hsp40) member A2 gene DOID:630 genetic disease ISO RGD:732533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856931 Caprin2 caprin family member 2 gene DOID:630 genetic disease ISO RGD:1604605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856953 Sgce sarcoglycan epsilon gene DOID:0090033 myoclonic dystonia ISO RGD:1352882 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism 8856953 Sgce sarcoglycan epsilon gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1352882 D RGD:7240710 20220629 OMIM 8856953 Sgce sarcoglycan epsilon gene DOID:0090034 myoclonic dystonia 11 ISO RGD:1352882 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:10220438|PMID:10716258|PMID:11022010|PMID:11523564|PMID:11528394|PMID:12325078|PMID:12391338|PMID:12391355|PMID:12402271|PMID:12743249|PMID:12821748|PMID:12874409|PMID:15079037|PMID:15389977|PMID:15728306|PMID:16199547|PMID:16227522|PMID:16240355|PMID:17101905|PMID:17296918|PMID:17576681|PMID:17853490|PMID:18175340|PMID:18205193|PMID:18349702|PMID:18355305|PMID:18362280|PMID:19066193|PMID:19117362|PMID:19133653|PMID:19147379|PMID:21796726|PMID:22026499|PMID:22259621|PMID:23365103|PMID:2367709|PMID:23677909|PMID:23748201|PMID:24297365|PMID:24759409|PMID:25034659|PMID:25150291|PMID:25401298|PMID:25406829|PMID:25741868|PMID:26046366|PMID:26467025|PMID:27441098|PMID:28155872|PMID:28492532|PMID:29607243|PMID:30849405|PMID:31186545|PMID:32927286|PMID:33200041|PMID:9536098|PMID:9750929 8856953 Sgce sarcoglycan epsilon gene DOID:10534 stomach cancer severity ISO RGD:1352882 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 8856953 Sgce sarcoglycan epsilon gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8856953 Sgce sarcoglycan epsilon gene DOID:480 movement disease ISO RGD:1352882 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:25741868|PMID:28492532 8856953 Sgce sarcoglycan epsilon gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8856953 Sgce sarcoglycan epsilon gene DOID:630 genetic disease ISO RGD:1352882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11528394|PMID:12821748|PMID:15389977|PMID:15728306|PMID:17296918|PMID:17853490|PMID:18205193|PMID:23748201|PMID:24297365|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9750929 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:0050722 PHGDH deficiency ISO RGD:1318588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1318588 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:10599696|PMID:10651755|PMID:10656999|PMID:10770215|PMID:10973654|PMID:11196452|PMID:12050213|PMID:12050224|PMID:15585552|PMID:18252794|PMID:21340167|PMID:22579964|PMID:24033266|PMID:25211449|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30029738|PMID:30668521|PMID:30719691|PMID:31006099|PMID:31533357|PMID:31950145|PMID:34055358|PMID:34628416|PMID:7626445|PMID:7633460|PMID:7651769|PMID:7962268|PMID:8004103|PMID:8060486|PMID:8316254 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1318588 D RGD:9068941 20200609 RGD mRNA:altered expression:cerebellum, hippocampus (human) PMID:18180323|REF_RGD_ID:4889108 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:10763 hypertension ISO RGD:67377 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus (rat) PMID:16116051|REF_RGD_ID:1599701 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:10892 hypospadias ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14764821 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:10892 hypospadias ISO RGD:1318588 D RGD:9068941 20200609 RGD DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity PMID:14764821|REF_RGD_ID:1625114 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:11383 cryptorchidism ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22381227 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1318588 D RGD:9068941 20200609 RGD protein:increased activity:ovary follicle, theca cell (human) PMID:11739466|REF_RGD_ID:4888511 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:12700 hyperprolactinemia ISO RGD:67377 D RGD:9068941 20200609 RGD mRNA:increased expression:skin (rat) PMID:8027581|REF_RGD_ID:4889559 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1318588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:3070 high grade glioma ISO RGD:1318588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:630 genetic disease ISO RGD:1318588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9000779 Hypospadias 1, X-Linked ISO RGD:1318588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypospadias 1, X-linked 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17823934 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9004890 Paranoid Disorders ISO RGD:1318588 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22356824 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9005105 Adrenal Hyperplasia 2 ISO RGD:1318588 D RGD:7240710 20180130 OMIM 8856988 Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 gene DOID:9005105 Adrenal Hyperplasia 2 ISO RGD:1318588 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY PMID:10486704|PMID:10599696|PMID:10651755|PMID:10656999|PMID:10770215|PMID:10843183|PMID:10973654|PMID:11196452|PMID:11287026|PMID:1196451|PMID:12050213|PMID:12050224|PMID:1363812|PMID:14966389|PMID:15585552|PMID:16648810|PMID:17689071|PMID:1825279|PMID:18252794|PMID:22343390|PMID:22579964|PMID:24033266|PMID:25741868|PMID:26021573|PMID:26288759|PMID:26467025|PMID:2755580|PMID:27626911|PMID:27796263|PMID:27899157|PMID:28207417|PMID:28492532|PMID:28870780|PMID:295036|PMID:30029738|PMID:30668521|PMID:30719691|PMID:31006099|PMID:31533357|PMID:31611844|PMID:31950145|PMID:32506065|PMID:34055358|PMID:34628416|PMID:4539073|PMID:7633460|PMID:7651769|PMID:7962268|PMID:8004103|PMID:8060486|PMID:8185809|PMID:8316254|PMID:9719627 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1322573 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:15632290|PMID:22512864|PMID:25741868|PMID:25741869|PMID:27479907|PMID:28135719|PMID:28492532|PMID:29021403|PMID:29222009 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ISO RGD:1322573 D RGD:7240710 20190315 OMIM 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder ISO RGD:1322573 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: CDK13-Related Disorder | ClinVar Annotator: match by term: CDK13-related condition | ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder PMID:15632290|PMID:22512864|PMID:25741868|PMID:25741869|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28554332|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30525188|PMID:30702837|PMID:30904094|PMID:31238879|PMID:31607746|PMID:33004838 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:10283 prostate cancer ISO RGD:1322573 D RGD:9068941 20221103 RGD mRNA,protein:increased expression:prostate: PMID:33390186|REF_RGD_ID:155641232 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:10286 prostate carcinoma ameliorates ISO RGD:1322573 D RGD:9068941 20221103 RGD PMID:33390186|REF_RGD_ID:155641232 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:1059 intellectual disability ISO RGD:1322573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:13938 amenorrhea ISO RGD:1322573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1322573 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:1612 breast cancer severity ISO RGD:1322573 D RGD:9068941 20221103 RGD PMID:33292020|REF_RGD_ID:155641236 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:1826 epilepsy ISO RGD:1322573 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:630 genetic disease ISO RGD:1322573 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15632290|PMID:17576681|PMID:22512864|PMID:25741868|PMID:25741869|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094|PMID:31607746|PMID:33004838|PMID:9536098 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:684 hepatocellular carcinoma onset ISO RGD:1322573 D RGD:9068941 20221103 RGD DNA:amplification: : PMID:22912832|REF_RGD_ID:155641228 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322573 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1322573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094 8856999 Cdk13 cyclin dependent kinase 13 gene DOID:9008086 Developmental Disabilities ISO RGD:1322573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741891|PMID:27479907|PMID:28135719|PMID:28492532|PMID:28807008|PMID:29021403|PMID:29222009|PMID:29393965|PMID:30702837|PMID:30904094 8857018 Clec17a C-type lectin domain containing 17A gene DOID:630 genetic disease ISO RGD:1601795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:2102 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15533056|REF_RGD_ID:6904219 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:16622176|REF_RGD_ID:6904147 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:1074 kidney failure ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:18046670|REF_RGD_ID:6904142 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:11394 adult respiratory distress syndrome ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:15710155|REF_RGD_ID:6904148 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:11400 pyelonephritis ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:19205372|REF_RGD_ID:6904156 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:2671 transitional cell carcinoma ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14644129 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:2841 asthma ISO RGD:735479 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14621078|REF_RGD_ID:6904149 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:3021 acute kidney failure ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:28885000|PMID:8963945 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:3021 acute kidney failure ISO RGD:735479 D RGD:9068941 20200609 RGD PMID:8963945|REF_RGD_ID:6904218 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:3324 mood disorder ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29987918 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:630 genetic disease ISO RGD:735479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:9000998 Brain Injuries ISO RGD:735479 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:14592616|REF_RGD_ID:6904155 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14644129 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:9005372 Inflammation ISO RGD:735479 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17765145|REF_RGD_ID:6904143 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8857044 Ambp alpha-1-microglobulin/bikunin precursor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18779383 8857087 Cops9 COP9 signalosome subunit 9 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1601821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8857087 Cops9 COP9 signalosome subunit 9 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1601821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8857087 Cops9 COP9 signalosome subunit 9 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1601821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8857087 Cops9 COP9 signalosome subunit 9 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1601821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8857087 Cops9 COP9 signalosome subunit 9 gene DOID:1059 intellectual disability ISO RGD:1601821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8857087 Cops9 COP9 signalosome subunit 9 gene DOID:630 genetic disease ISO RGD:1601821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857087 Cops9 COP9 signalosome subunit 9 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1601821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8857094 Ccnd3 cyclin D3 gene DOID:0050444 infantile Refsum disease ISO RGD:736176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8857094 Ccnd3 cyclin D3 gene DOID:10283 prostate cancer disease_progression ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:18317945|REF_RGD_ID:2316009 8857094 Ccnd3 cyclin D3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:16482499|REF_RGD_ID:2316012 8857094 Ccnd3 cyclin D3 gene DOID:2893 cervix carcinoma ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:14751136|REF_RGD_ID:2316013 8857094 Ccnd3 cyclin D3 gene DOID:3008 invasive ductal carcinoma severity ISO RGD:736176 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11329139|REF_RGD_ID:2316016 8857094 Ccnd3 cyclin D3 gene DOID:3713 ovary adenocarcinoma disease_progression ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:17885491|REF_RGD_ID:2316011 8857094 Ccnd3 cyclin D3 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:18679818|REF_RGD_ID:2316007 8857094 Ccnd3 cyclin D3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:736176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 8857094 Ccnd3 cyclin D3 gene DOID:630 genetic disease ISO RGD:736176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857094 Ccnd3 cyclin D3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2293 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18008145|REF_RGD_ID:2316019 8857094 Ccnd3 cyclin D3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2293 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mammary gland PMID:16311245|REF_RGD_ID:2316020 8857094 Ccnd3 cyclin D3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733443 D RGD:9068941 20200609 RGD PMID:12853979|REF_RGD_ID:2316015 8857094 Ccnd3 cyclin D3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2293 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus PMID:19276076|REF_RGD_ID:2316018 8857094 Ccnd3 cyclin D3 gene DOID:9008939 Breast Neoplasms ISO RGD:736176 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-677C>T (human) PMID:19142864|REF_RGD_ID:2316005 8857094 Ccnd3 cyclin D3 gene DOID:905 Zellweger syndrome ISO RGD:736176 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8857094 Ccnd3 cyclin D3 gene DOID:9538 multiple myeloma ISO RGD:736176 D RGD:9068941 20200609 RGD PMID:15755896|REF_RGD_ID:1581171 8857109 Psmc5 proteasome 26S subunit, ATPase 5 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:732741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8857109 Psmc5 proteasome 26S subunit, ATPase 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8857109 Psmc5 proteasome 26S subunit, ATPase 5 gene DOID:630 genetic disease ISO RGD:732741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857125 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:2349 arteriosclerosis ISO RGD:1615659 D RGD:9068941 20200609 RGD PMID:17218600|REF_RGD_ID:1642183 8857125 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8857125 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:630 genetic disease ISO RGD:1345181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857125 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1615659 D RGD:9068941 20200609 RGD PMID:15671032|REF_RGD_ID:1642184 8857125 Npc1l1 NPC1 like intracellular cholesterol transporter 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1303135 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine, liver PMID:17292734|REF_RGD_ID:1642185 8857153 Pierce2 piercer of microtubule wall 2 gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:7245658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:28492532 8857153 Pierce2 piercer of microtubule wall 2 gene DOID:2717 Bloom syndrome ISO RGD:7245658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8857153 Pierce2 piercer of microtubule wall 2 gene DOID:9256 colorectal cancer ISO RGD:7245658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8857165 Trhr thyrotropin releasing hormone receptor gene DOID:0050328 congenital hypothyroidism ISO RGD:11453 D RGD:9068941 20220825 MouseDO 8857165 Trhr thyrotropin releasing hormone receptor gene DOID:0111836 congenital nongoitrous hypothyroidism 7 ISO RGD:737056 D RGD:7240710 20190911 OMIM 8857165 Trhr thyrotropin releasing hormone receptor gene DOID:0111836 congenital nongoitrous hypothyroidism 7 ISO RGD:737056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 7 PMID:19213692|PMID:25741868|PMID:26735259|PMID:28419241|PMID:9141550 8857165 Trhr thyrotropin releasing hormone receptor gene DOID:10763 hypertension ISO RGD:3904 D RGD:9068941 20200609 RGD PMID:7554113|REF_RGD_ID:1580745 8857165 Trhr thyrotropin releasing hormone receptor gene DOID:10763 hypertension ISO RGD:737056 D RGD:9068941 20200609 RGD PMID:11566956|REF_RGD_ID:1580744 8857165 Trhr thyrotropin releasing hormone receptor gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:737056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9141550 8857165 Trhr thyrotropin releasing hormone receptor gene DOID:1459 hypothyroidism ISO RGD:737056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9141550 8857165 Trhr thyrotropin releasing hormone receptor gene DOID:630 genetic disease ISO RGD:737056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857177 Apool apolipoprotein O like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8857177 Apool apolipoprotein O like gene DOID:12849 autistic disorder ISO RGD:1351827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8857177 Apool apolipoprotein O like gene DOID:630 genetic disease ISO RGD:1351827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857193 Ptgr2 prostaglandin reductase 2 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1321465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 8857193 Ptgr2 prostaglandin reductase 2 gene DOID:1059 intellectual disability ISO RGD:1321465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8857193 Ptgr2 prostaglandin reductase 2 gene DOID:630 genetic disease ISO RGD:1321465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857212 Iscu iron-sulfur cluster assembly enzyme gene DOID:10591 pre-eclampsia ISO RGD:1607067 D RGD:9068941 20221103 RGD mRNA:decreased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 8857212 Iscu iron-sulfur cluster assembly enzyme gene DOID:423 myopathy ISO RGD:1607067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:28492532 8857212 Iscu iron-sulfur cluster assembly enzyme gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1607067 D RGD:9068941 20220930 RGD mRNA,protein:decreased expression:kidney (human) PMID:23449350|REF_RGD_ID:155260320 8857212 Iscu iron-sulfur cluster assembly enzyme gene DOID:630 genetic disease ISO RGD:1607067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8857212 Iscu iron-sulfur cluster assembly enzyme gene DOID:9006323 Myopathy with Lactic Acidosis, Hereditary ISO RGD:1607067 D RGD:7240710 20180130 OMIM 8857212 Iscu iron-sulfur cluster assembly enzyme gene DOID:9006323 Myopathy with Lactic Acidosis, Hereditary ISO RGD:1607067 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary PMID:18296749|PMID:18304497|PMID:19567699|PMID:19846308|PMID:20206689|PMID:21165651|PMID:22125086|PMID:24573684|PMID:25741868|PMID:28492532|PMID:30209894 8857242 Cetn1 centrin 1 gene DOID:12849 autistic disorder ISO RGD:1344937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8857242 Cetn1 centrin 1 gene DOID:630 genetic disease ISO RGD:1344937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857242 Cetn1 centrin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8857247 Kdf1 keratinocyte differentiation factor 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1602654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8857247 Kdf1 keratinocyte differentiation factor 1 gene DOID:0111652 ectodermal dysplasia 12 ISO RGD:1602654 D RGD:7240710 20190315 OMIM 8857247 Kdf1 keratinocyte differentiation factor 1 gene DOID:0111652 ectodermal dysplasia 12 ISO RGD:1602654 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type PMID:25741868|PMID:27838789|PMID:28492532 8857247 Kdf1 keratinocyte differentiation factor 1 gene DOID:13714 anodontia ISO RGD:1602654 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:25741868 8857247 Kdf1 keratinocyte differentiation factor 1 gene DOID:630 genetic disease ISO RGD:1602654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8857278 Acot11 acyl-CoA thioesterase 11 gene DOID:630 genetic disease ISO RGD:1317612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857313 Bend2 BEN domain containing 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1350095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8857313 Bend2 BEN domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8857313 Bend2 BEN domain containing 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1350095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 8857313 Bend2 BEN domain containing 2 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1350095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8857313 Bend2 BEN domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1350095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8857313 Bend2 BEN domain containing 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1350095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8857313 Bend2 BEN domain containing 2 gene DOID:630 genetic disease ISO RGD:1350095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857313 Bend2 BEN domain containing 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8857313 Bend2 BEN domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8857332 Pcp2 Purkinje cell protein 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1314709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8857332 Pcp2 Purkinje cell protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1314709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8857332 Pcp2 Purkinje cell protein 2 gene DOID:630 genetic disease ISO RGD:1314709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857340 Igsf1 immunoglobulin superfamily member 1 gene DOID:0050328 congenital hypothyroidism ISO RGD:1353839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143598 8857340 Igsf1 immunoglobulin superfamily member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8857340 Igsf1 immunoglobulin superfamily member 1 gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:1353839 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:25741868|PMID:28492532 8857340 Igsf1 immunoglobulin superfamily member 1 gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1353839 D RGD:7240710 20180130 OMIM 8857340 Igsf1 immunoglobulin superfamily member 1 gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1353839 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement PMID:23143598|PMID:23966245|PMID:25741868|PMID:27310681|PMID:28492532|PMID:30086211 8857340 Igsf1 immunoglobulin superfamily member 1 gene DOID:12849 autistic disorder ISO RGD:1353839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8857340 Igsf1 immunoglobulin superfamily member 1 gene DOID:2519 testicular disease ISO RGD:1353839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143598 8857340 Igsf1 immunoglobulin superfamily member 1 gene DOID:630 genetic disease ISO RGD:1353839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8857340 Igsf1 immunoglobulin superfamily member 1 gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:1353839 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: TSH RESISTANCE PMID:25741868|PMID:28492532 8857378 E2f1 E2F transcription factor 1 gene DOID:0080600 COVID-19 ISO RGD:730923 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8857378 E2f1 E2F transcription factor 1 gene DOID:10283 prostate cancer ISO RGD:730923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8857378 E2f1 E2F transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:730923 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex,cytoplasm: PMID:11939591|REF_RGD_ID:10401093 8857378 E2f1 E2F transcription factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730923 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder PMID:20421545|REF_RGD_ID:13602004 8857378 E2f1 E2F transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:728892 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18768156|REF_RGD_ID:2316262 8857378 E2f1 E2F transcription factor 1 gene DOID:12858 Huntington's disease ISO RGD:730923 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18768156|REF_RGD_ID:2316262 8857378 E2f1 E2F transcription factor 1 gene DOID:12894 Sjogren's syndrome ISO RGD:730924 D RGD:9068941 20220825 MouseDO OMIM:270150 8857378 E2f1 E2F transcription factor 1 gene DOID:1307 dementia ISO RGD:730923 D RGD:9068941 20200609 RGD associated with Down Syndrome;protein:increased expression:frontal cortex; PMID:11423103|REF_RGD_ID:10401091 8857378 E2f1 E2F transcription factor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464002 8857378 E2f1 E2F transcription factor 1 gene DOID:1793 pancreatic cancer treatment ISO RGD:728892 D RGD:9068941 20200609 RGD PMID:28344092|REF_RGD_ID:13838737 8857378 E2f1 E2F transcription factor 1 gene DOID:1909 melanoma ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15574415|PMID:16827129 8857378 E2f1 E2F transcription factor 1 gene DOID:2843 long QT syndrome ISO RGD:730923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8857378 E2f1 E2F transcription factor 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:16264179|REF_RGD_ID:13702471 8857378 E2f1 E2F transcription factor 1 gene DOID:3070 high grade glioma severity ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:28042322|REF_RGD_ID:13702468 8857378 E2f1 E2F transcription factor 1 gene DOID:3347 osteosarcoma ISO RGD:730923 D RGD:9068941 20220128 RGD human cells in mouse model PMID:29039472|REF_RGD_ID:151347601 8857378 E2f1 E2F transcription factor 1 gene DOID:3347 osteosarcoma severity ISO RGD:730923 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 8857378 E2f1 E2F transcription factor 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:730923 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic ductal cell, nucleus (human) PMID:27573434|REF_RGD_ID:13838738 8857378 E2f1 E2F transcription factor 1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:730923 D RGD:9068941 20200609 RGD DNA:amplification: : (human) PMID:17233815|REF_RGD_ID:13838739 8857378 E2f1 E2F transcription factor 1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:730923 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic ductal cell, nucleus (human) PMID:12650514|REF_RGD_ID:13838735 8857378 E2f1 E2F transcription factor 1 gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:28927142|REF_RGD_ID:13464332 8857378 E2f1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 8857378 E2f1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:12237873|REF_RGD_ID:13464342 8857378 E2f1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:23543735|REF_RGD_ID:9590260 8857378 E2f1 E2F transcription factor 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:12358350|PMID:28498400|REF_RGD_ID:13464333|REF_RGD_ID:13464343 8857378 E2f1 E2F transcription factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:730923 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:26695082|REF_RGD_ID:13464334 8857378 E2f1 E2F transcription factor 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:730923 D RGD:9068941 20200609 RGD Human cells in a mouse model PMID:28797284|REF_RGD_ID:13838736 8857378 E2f1 E2F transcription factor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:730923 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11313916|REF_RGD_ID:13464344 8857378 E2f1 E2F transcription factor 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:24755270|REF_RGD_ID:13464335 8857378 E2f1 E2F transcription factor 1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:730923 D RGD:9068941 20200609 RGD PMID:23792570|REF_RGD_ID:13464337 8857378 E2f1 E2F transcription factor 1 gene DOID:630 genetic disease ISO RGD:730923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857378 E2f1 E2F transcription factor 1 gene DOID:646 viral encephalitis ISO RGD:730923 D RGD:9068941 20200609 RGD associated with HIV Infections; protein:increased expression:brain, neuron, cytoplasm: PMID:11896158|REF_RGD_ID:10401094 8857378 E2f1 E2F transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:15565109|PMID:28284560 8857378 E2f1 E2F transcription factor 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:730923 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:26460262|REF_RGD_ID:13674165 8857378 E2f1 E2F transcription factor 1 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:730923 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 8857378 E2f1 E2F transcription factor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 8857378 E2f1 E2F transcription factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14672398 8857378 E2f1 E2F transcription factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730924 D RGD:9068941 20200609 RGD E2f1/E2f2 double knockout PMID:15146237|REF_RGD_ID:1300306 8857378 E2f1 E2F transcription factor 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730924 D RGD:9068941 20220825 MouseDO OMIM:222100 8857389 Sdk2 sidekick cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1321280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857438 Ip6k2 inositol hexakisphosphate kinase 2 gene DOID:12858 Huntington's disease ISO RGD:731328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21652713 8857438 Ip6k2 inositol hexakisphosphate kinase 2 gene DOID:630 genetic disease ISO RGD:731328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857438 Ip6k2 inositol hexakisphosphate kinase 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:731328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8857438 Ip6k2 inositol hexakisphosphate kinase 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:731328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8857471 Ints14 integrator complex subunit 14 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8857471 Ints14 integrator complex subunit 14 gene DOID:2717 Bloom syndrome ISO RGD:1604589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8857471 Ints14 integrator complex subunit 14 gene DOID:630 genetic disease ISO RGD:1604589 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857471 Ints14 integrator complex subunit 14 gene DOID:9256 colorectal cancer ISO RGD:1604589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8857503 Mlip muscular LMNA interacting protein gene DOID:630 genetic disease ISO RGD:1315218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857503 Mlip muscular LMNA interacting protein gene DOID:9001244 Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis ISO RGD:1315218 D RGD:7240710 20221214 OMIM 8857503 Mlip muscular LMNA interacting protein gene DOID:9001244 Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis ISO RGD:1315218 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis PMID:34581780|PMID:34935254|PMID:35672413|PMID:35915960 8857531 Fam83d family with sequence similarity 83 member D gene DOID:2234 focal epilepsy ISO RGD:1347604 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8857531 Fam83d family with sequence similarity 83 member D gene DOID:3068 glioblastoma ISO RGD:1347604 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35150198 8857531 Fam83d family with sequence similarity 83 member D gene DOID:630 genetic disease ISO RGD:1347604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857531 Fam83d family with sequence similarity 83 member D gene DOID:684 hepatocellular carcinoma ISO RGD:1347604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8857549 Usp28 ubiquitin specific peptidase 28 gene DOID:10283 prostate cancer ISO RGD:1323075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8857549 Usp28 ubiquitin specific peptidase 28 gene DOID:1059 intellectual disability ISO RGD:1323075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8857549 Usp28 ubiquitin specific peptidase 28 gene DOID:630 genetic disease ISO RGD:1323075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857549 Usp28 ubiquitin specific peptidase 28 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 8857549 Usp28 ubiquitin specific peptidase 28 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8857576 Hoxd8 homeobox D8 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1351859 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8857576 Hoxd8 homeobox D8 gene DOID:630 genetic disease ISO RGD:1351859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857582 Gpx4 glutathione peroxidase 4 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:736049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8857582 Gpx4 glutathione peroxidase 4 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:736049 D RGD:9068941 20220630 RGD DNA:SNP:3' utr:c.718T>C (human) PMID:18850177|REF_RGD_ID:152998895 8857582 Gpx4 glutathione peroxidase 4 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:736049 D RGD:9068941 20220623 RGD protein:increased expression:oral cavity (human) PMID:28653098|REF_RGD_ID:152995473 8857582 Gpx4 glutathione peroxidase 4 gene DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type ISO RGD:736049 D RGD:7240710 20190315 OMIM 8857582 Gpx4 glutathione peroxidase 4 gene DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type ISO RGD:736049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GPX4-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Sedaghatian type PMID:22529034|PMID:24706940|PMID:25741868|PMID:28492532 8857582 Gpx4 glutathione peroxidase 4 gene DOID:10591 pre-eclampsia ISO RGD:736049 D RGD:9068941 20230928 RGD protein:decreased expression:placenta PMID:20303587|REF_RGD_ID:401827170 8857582 Gpx4 glutathione peroxidase 4 gene DOID:10591 pre-eclampsia ISO RGD:736049 D RGD:9068941 20230930 RGD mRNA:decreased expression:placenta PMID:18852388|REF_RGD_ID:401827849 8857582 Gpx4 glutathione peroxidase 4 gene DOID:10603 glucose intolerance ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26042203 8857582 Gpx4 glutathione peroxidase 4 gene DOID:11383 cryptorchidism ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 8857582 Gpx4 glutathione peroxidase 4 gene DOID:1184 nephrotic syndrome ISO RGD:736049 D RGD:9068941 20231005 RGD mRNA:decreased expression:kidney PMID:20685819|REF_RGD_ID:7205671 8857582 Gpx4 glutathione peroxidase 4 gene DOID:12336 male infertility ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19417079|PMID:19744930 8857582 Gpx4 glutathione peroxidase 4 gene DOID:219 colon cancer disease_progression ISO RGD:736049 D RGD:9068941 20220630 RGD mRNA, protein:increased expression:colon (human) PMID:21868509|REF_RGD_ID:152995496 8857582 Gpx4 glutathione peroxidase 4 gene DOID:3021 acute kidney failure treatment ISO RGD:69226 D RGD:9068941 20231005 RGD PMID:29548851|REF_RGD_ID:401827911 8857582 Gpx4 glutathione peroxidase 4 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:736049 D RGD:9068941 20220630 RGD mRNA:decreased expression:stomach, erythrocyte, lymphocyte (human) PMID:27957666|REF_RGD_ID:152998894 8857582 Gpx4 glutathione peroxidase 4 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:736049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 8857582 Gpx4 glutathione peroxidase 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:736049 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8857582 Gpx4 glutathione peroxidase 4 gene DOID:6000 congestive heart failure ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 8857582 Gpx4 glutathione peroxidase 4 gene DOID:630 genetic disease ISO RGD:736049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8857582 Gpx4 glutathione peroxidase 4 gene DOID:9000784 Fibrosis ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26042203 8857582 Gpx4 glutathione peroxidase 4 gene DOID:9001191 Cadmium Poisoning ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643113 8857582 Gpx4 glutathione peroxidase 4 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:736049 D RGD:9068941 20230928 RGD mRNA, protein:increased expression:blood, plasma PMID:28298473|REF_RGD_ID:401827171 8857582 Gpx4 glutathione peroxidase 4 gene DOID:9004994 Embryo Loss ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12566075 8857582 Gpx4 glutathione peroxidase 4 gene DOID:9006302 Binge Drinking ISO RGD:69226 D RGD:9068941 20231005 RGD protein:decreased expression:liver PMID:25864381|REF_RGD_ID:401827870 8857582 Gpx4 glutathione peroxidase 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18850177 8857582 Gpx4 glutathione peroxidase 4 gene DOID:9008939 Breast Neoplasms ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634480 8857582 Gpx4 glutathione peroxidase 4 gene DOID:9256 colorectal cancer susceptibility ISO RGD:736049 D RGD:9068941 20220623 RGD DNA:silent mutation:CDS: (rs713041) (human) PMID:20378690|REF_RGD_ID:152995451 8857582 Gpx4 glutathione peroxidase 4 gene DOID:9452 steatotic liver disease ISO RGD:736049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26042203 8857612 Cobll1 cordon-bleu WH2 repeat protein like 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1319028 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 8857612 Cobll1 cordon-bleu WH2 repeat protein like 1 gene DOID:1826 epilepsy ISO RGD:1319028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 8857612 Cobll1 cordon-bleu WH2 repeat protein like 1 gene DOID:630 genetic disease ISO RGD:1319028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857612 Cobll1 cordon-bleu WH2 repeat protein like 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1319028 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34355838 8857631 Ehf ETS homologous factor gene DOID:1059 intellectual disability ISO RGD:1321091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8857631 Ehf ETS homologous factor gene DOID:630 genetic disease ISO RGD:1321091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857631 Ehf ETS homologous factor gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:1310282 D RGD:9068941 20200609 RGD PMID:14662712|REF_RGD_ID:1581123 8857631 Ehf ETS homologous factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8857645 Foxg1 forkhead box G1 gene DOID:0060041 autism spectrum disorder ISO RGD:737514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8857645 Foxg1 forkhead box G1 gene DOID:0070297 primary microcephaly ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 8857645 Foxg1 forkhead box G1 gene DOID:1059 intellectual disability ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:18414213|PMID:25741868|PMID:28492532|PMID:28661489|PMID:28708303 8857645 Foxg1 forkhead box G1 gene DOID:10907 microcephaly ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:25741868 8857645 Foxg1 forkhead box G1 gene DOID:1206 Rett syndrome ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868 8857645 Foxg1 forkhead box G1 gene DOID:1826 epilepsy ISO RGD:737514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8857645 Foxg1 forkhead box G1 gene DOID:630 genetic disease ISO RGD:737514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1356269|PMID:18414213|PMID:19564653|PMID:19578037|PMID:19806373|PMID:21280142|PMID:21441262|PMID:21488007|PMID:22190898|PMID:23757202|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26344814|PMID:26467025|PMID:26633542|PMID:26845707|PMID:27029630|PMID:28492532|PMID:28628100|PMID:28661489|PMID:28851325|PMID:29655203|PMID:30533527|PMID:30792901|PMID:8332212 8857645 Foxg1 forkhead box G1 gene DOID:863 nervous system disease ISO RGD:737514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 8857645 Foxg1 forkhead box G1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:737514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:19806373|PMID:21441262|PMID:22190898|PMID:23757202|PMID:24836831|PMID:25741868|PMID:26344814|PMID:28492532|PMID:28661489|PMID:28851325|PMID:30533527 8857645 Foxg1 forkhead box G1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8857645 Foxg1 forkhead box G1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737514 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8857645 Foxg1 forkhead box G1 gene DOID:9006534 Nervous System Malformations ISO RGD:737514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20734096|PMID:22129046|PMID:22739344|PMID:22968132|PMID:25741868|PMID:28492532|PMID:28661489 8857645 Foxg1 forkhead box G1 gene DOID:9008086 Developmental Disabilities ISO RGD:737514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362 8857645 Foxg1 forkhead box G1 gene DOID:9008979 Rett Syndrome, Congenital Variant ISO RGD:737514 D RGD:7240710 20180130 OMIM 8857645 Foxg1 forkhead box G1 gene DOID:9008979 Rett Syndrome, Congenital Variant ISO RGD:737514 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:18414213|PMID:18571142|PMID:19564653|PMID:19578037|PMID:19623215|PMID:19806373|PMID:20734096|PMID:21270142|PMID:21280142|PMID:21441262|PMID:21488007|PMID:21694734|PMID:22091895|PMID:22129046|PMID:22190898|PMID:22258524|PMID:22739344|PMID:22968132|PMID:23757202|PMID:23838309|PMID:24412290|PMID:24731847|PMID:24836831|PMID:24901346|PMID:25326635|PMID:25356899|PMID:25741868|PMID:25914188|PMID:26344814|PMID:26364767|PMID:26467025|PMID:26633542|PMID:26938784|PMID:26993267|PMID:27001178|PMID:27029630|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28661489|PMID:28708303|PMID:28781028|PMID:28851325|PMID:28947817|PMID:29389947|PMID:29611406|PMID:29655203|PMID:29852413|PMID:30525188|PMID:30533527|PMID:30792901|PMID:30842224|PMID:30866059|PMID:31780880|PMID:32581362|PMID:34284163|PMID:34837432 8857645 Foxg1 forkhead box G1 gene DOID:9008979 Rett Syndrome, Congenital Variant ISO RGD:737514 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FOXG1 disorder | ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:18414213|PMID:18571142|PMID:19564653|PMID:19578037|PMID:19623215|PMID:19806373|PMID:20734096|PMID:21270142|PMID:21280142|PMID:21441262|PMID:21488007|PMID:21694734|PMID:22091895|PMID:22129046|PMID:22190898|PMID:22258524|PMID:22739344|PMID:22968132|PMID:23757202|PMID:23838309|PMID:24412290|PMID:24731847|PMID:24836831|PMID:24901346|PMID:25326635|PMID:25356899|PMID:25741868|PMID:25914188|PMID:26344814|PMID:26364767|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26938784|PMID:26993267|PMID:27001178|PMID:27029630|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28661489|PMID:28708303|PMID:28781028|PMID:28851325|PMID:28947817|PMID:29389947|PMID:29611406|PMID:29655203|PMID:29852413|PMID:30525188|PMID:30533527|PMID:30792901|PMID:30842224|PMID:30866059|PMID:31199603|PMID:31780880|PMID:32581362|PMID:34284163|PMID:34837432|PMID:35163265 8857645 Foxg1 forkhead box G1 gene DOID:9250 acrocallosal syndrome ISO RGD:737514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18627055 8857651 Recql5 RecQ like helicase 5 gene DOID:2661 myoepithelioma ISO RGD:1321946 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8857651 Recql5 RecQ like helicase 5 gene DOID:630 genetic disease ISO RGD:1321946 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1343402 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25927852|PMID:28492532|PMID:32719396 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1343402 D RGD:7240710 20190315 OMIM 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1343402 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 PMID:16199547|PMID:17576681|PMID:24033266|PMID:24360805|PMID:25741868|PMID:27573432|PMID:27798045|PMID:28492532|PMID:28577616|PMID:29449551|PMID:30686508|PMID:30811583|PMID:31507630|PMID:31676830|PMID:31765523|PMID:32124190|PMID:33929677|PMID:33968654|PMID:34089056|PMID:34791246|PMID:34867808|PMID:9536098 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1343402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:25741868|PMID:28492532 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:0080266 primary ciliary dyskinesia 37 ISO RGD:1343402 D RGD:7240710 20190315 OMIM 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:0080266 primary ciliary dyskinesia 37 ISO RGD:1343402 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 37 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 37 PMID:16199547|PMID:24033266|PMID:24360805|PMID:25741868|PMID:25927852|PMID:27573432|PMID:27798045|PMID:28492532|PMID:32719396|PMID:33577779 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1343402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:0111915 spermatogenic failure 33 ISO RGD:1343402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic male infertility due to sperm motility disorder PMID:24033266 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:28492532 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:630 genetic disease ISO RGD:1343402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:6846 familial melanoma ISO RGD:1343402 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:21874000|PMID:23684012|PMID:25741868|PMID:28492532 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1343402 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:21874000|PMID:23684012|PMID:25741868|PMID:28492532 8857676 Dnah1 dynein axonemal heavy chain 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343402 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:27573432|PMID:27798045|PMID:28492532 8857761 Txlna taxilin alpha gene DOID:630 genetic disease ISO RGD:1603882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857789 Adhfe1 alcohol dehydrogenase iron containing 1 gene DOID:630 genetic disease ISO RGD:1318880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857789 Adhfe1 alcohol dehydrogenase iron containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8857812 Wdr17 WD repeat domain 17 gene DOID:630 genetic disease ISO RGD:1349408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857812 Wdr17 WD repeat domain 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8857812 Wdr17 WD repeat domain 17 gene DOID:9007188 Liver Neoplasms ISO RGD:1349408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8857853 Prkcg protein kinase C gamma gene DOID:0050753 cerebellar ataxia ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 8857853 Prkcg protein kinase C gamma gene DOID:0050951 hereditary ataxia ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:25741868 8857853 Prkcg protein kinase C gamma gene DOID:0050964 spinocerebellar ataxia type 14 ISO RGD:732858 D RGD:7240710 20180130 OMIM 8857853 Prkcg protein kinase C gamma gene DOID:0050964 spinocerebellar ataxia type 14 ISO RGD:732858 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 14 PMID:12164726|PMID:12644968|PMID:14676051|PMID:14694043|PMID:15313841|PMID:15618281|PMID:15824357|PMID:15841389|PMID:15964845|PMID:16189624|PMID:16193476|PMID:16547918|PMID:16649092|PMID:16763984|PMID:17024314|PMID:17344846|PMID:17562946|PMID:17659643|PMID:18005063|PMID:18499672|PMID:18577575|PMID:19561170|PMID:20301573|PMID:21434874|PMID:21666345|PMID:21937992|PMID:24134140|PMID:24744737|PMID:24937631|PMID:25217572|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28738819|PMID:30093405|PMID:30363848|PMID:9545390 8857853 Prkcg protein kinase C gamma gene DOID:0080058 autosomal recessive spinocerebellar ataxia 14 ISO RGD:732858 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 PMID:25741868 8857853 Prkcg protein kinase C gamma gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:28492532 8857853 Prkcg protein kinase C gamma gene DOID:10584 retinitis pigmentosa ISO RGD:11147 D RGD:9068941 20200609 RGD PMID:9545390|REF_RGD_ID:737791 8857853 Prkcg protein kinase C gamma gene DOID:1059 intellectual disability ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8857853 Prkcg protein kinase C gamma gene DOID:12098 trigeminal neuralgia ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8857853 Prkcg protein kinase C gamma gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 8857853 Prkcg protein kinase C gamma gene DOID:3525 middle cerebral artery infarction ISO RGD:732858 D RGD:9068941 20200609 RGD PMID:14688616|REF_RGD_ID:1358416 8857853 Prkcg protein kinase C gamma gene DOID:630 genetic disease ISO RGD:732858 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8857853 Prkcg protein kinase C gamma gene DOID:9000039 Spinal Cord Injuries ISO RGD:11147 D RGD:9068941 20200813 RGD protein:decreased expression:spinal cord (mouse) PMID:10501452|REF_RGD_ID:28867228 8857853 Prkcg protein kinase C gamma gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20398063 8857853 Prkcg protein kinase C gamma gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:732858 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: (human) PMID:12644968|REF_RGD_ID:737790 8857853 Prkcg protein kinase C gamma gene DOID:9002211 Hyperalgesia ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19955894|PMID:27093858 8857853 Prkcg protein kinase C gamma gene DOID:9002211 Hyperalgesia treatment ISO RGD:732858 D RGD:9068941 20200813 RGD PMID:12560106|REF_RGD_ID:28867224 8857853 Prkcg protein kinase C gamma gene DOID:9006205 Animal Disease Models ISO RGD:732858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8857853 Prkcg protein kinase C gamma gene DOID:9277 primary cerebellar degeneration ISO RGD:732858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:25741868 8857889 Grpel2 GrpE like 2, mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1342740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8857889 Grpel2 GrpE like 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1342740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857889 Grpel2 GrpE like 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8857889 Grpel2 GrpE like 2, mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1317121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1317121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0110872 holoprosencephaly 2 ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:25741868|PMID:34008892 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1317121 D RGD:7240710 20190320 OMIM 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:0112103 Sotos syndrome 1 ISO RGD:1317121 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: NSD1-related condition PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:28475857|PMID:28492532 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:10591 pre-eclampsia ISO RGD:1317121 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Preeclampsia PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:10907 microcephaly ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:12849 autistic disorder ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:18414213|PMID:25741868|PMID:28492532 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:14731 Weaver syndrome ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:18414213|PMID:25741868|PMID:28492532 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:14748 Sotos syndrome ISO RGD:1317121 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:11896389|PMID:12464997|PMID:12525543|PMID:12676901|PMID:12807965|PMID:14517949|PMID:14571271|PMID:14627693|PMID:14997421|PMID:15452385|PMID:15580547|PMID:15720303|PMID:15742365|PMID:15942875|PMID:16199547|PMID:16222665|PMID:16232326|PMID:16247291|PMID:16329110|PMID:16770806|PMID:17090394|PMID:17561922|PMID:17565728|PMID:17565729|PMID:17576681|PMID:18001468|PMID:18414213|PMID:18505455|PMID:19545651|PMID:19763152|PMID:19876911|PMID:20018718|PMID:20307669|PMID:21196496|PMID:21567906|PMID:21597970|PMID:21738022|PMID:21834047|PMID:21972110|PMID:22406018|PMID:22924495|PMID:23190751|PMID:23333153|PMID:23592277|PMID:23599694|PMID:23806086|PMID:23913520|PMID:24088041|PMID:24412544|PMID:24819041|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25608832|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25852445|PMID:26043501|PMID:26047794|PMID:26257172|PMID:26613968|PMID:26633545|PMID:26690673|PMID:26896805|PMID:26938784|PMID:27604501|PMID:27834868|PMID:28128410|PMID:28475857|PMID:28492532|PMID:29264563|PMID:29276005|PMID:30029678|PMID:30719864|PMID:31147750|PMID:31981491|PMID:32170002|PMID:32277047|PMID:33389145|PMID:34008892|PMID:34033256|PMID:36919607|PMID:9536098 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:1826 epilepsy ISO RGD:1317121 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1317121 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome PMID:12464997|PMID:12807965|PMID:14571271|PMID:15452385|PMID:15742365|PMID:15942875|PMID:16232326|PMID:16247291|PMID:17561922|PMID:17565729|PMID:18414213|PMID:18505455|PMID:19545651|PMID:19876911|PMID:21196496|PMID:21597970|PMID:21972110|PMID:22924495|PMID:23190751|PMID:24412544|PMID:25326635|PMID:25326637|PMID:25608832|PMID:25741868|PMID:25741869|PMID:25852445|PMID:26690673|PMID:26896805|PMID:27834868|PMID:28475857|PMID:28492532|PMID:30719864 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:5648 choroid plexus carcinoma ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:26822237 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:630 genetic disease ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11226167|PMID:12464997|PMID:12807965|PMID:14517949|PMID:14571271|PMID:15452385|PMID:15720303|PMID:15942875|PMID:16222665|PMID:16232326|PMID:16247291|PMID:17565729|PMID:18001468|PMID:18414213|PMID:21972110|PMID:23592277|PMID:24412544|PMID:25741868|PMID:25741869|PMID:26613968|PMID:26690673|PMID:26876097|PMID:28475857|PMID:28492532 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:769 neuroblastoma severity ISO RGD:1317121 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:CpG islands (human) PMID:20018718|REF_RGD_ID:9590155 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9003133 Hypertelorism ISO RGD:1317121 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:12464997|PMID:12807965|PMID:15942875|PMID:17565729|PMID:18414213|PMID:21196496|PMID:24412544|PMID:25741868|PMID:26690673|PMID:27834868|PMID:28492532|PMID:30719864 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317121 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16247291|PMID:18414213|PMID:25741868|PMID:28475857|PMID:28492532 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1614441 D RGD:9068941 20200609 RGD PMID:22832494|REF_RGD_ID:9590156 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9006084 Gigantism ISO RGD:1317121 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) PMID:16222665|REF_RGD_ID:11568154 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1317121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532|PMID:32277047 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1317121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1317121 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:17565729|PMID:18414213|PMID:23190751|PMID:25741868|PMID:28492532 8857905 Nsd1 nuclear receptor binding SET domain protein 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1317121 D RGD:9068941 20200609 RGD DNA:translocations:multiple (human) PMID:23630019|REF_RGD_ID:9590149 8857945 Anapc13 anaphase promoting complex subunit 13 gene DOID:630 genetic disease ISO RGD:1346286 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8857945 Anapc13 anaphase promoting complex subunit 13 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1346286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1319073 D RGD:9068941 20220825 MouseDO OMIM:601457 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:0111961 immunodeficiency 26 ISO RGD:1319072 D RGD:7240710 20180130 OMIM 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:0111961 immunodeficiency 26 ISO RGD:1319072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:16199547|PMID:17576681|PMID:19075392|PMID:23722905|PMID:25640679|PMID:25741868|PMID:25842288|PMID:26122175|PMID:28492532|PMID:29987844|PMID:30121298|PMID:30778343|PMID:9536098 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:10907 microcephaly ISO RGD:1319072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:13413 hepatic encephalopathy ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224054 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:1612 breast cancer ISO RGD:1319072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:28492532 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:627 severe combined immunodeficiency ISO RGD:12330988 D RGD:9068941 20230608 OMIA Severe combined immunodeficiency disease, autosomal, PRKDC-related PMID:11489998|PMID:11867233|PMID:12033674|PMID:15017021|PMID:19635917 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:627 severe combined immunodeficiency ISO RGD:1308982 D RGD:9068941 20200609 RGD PMID:22981234|REF_RGD_ID:8696027 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:627 severe combined immunodeficiency ISO RGD:1319073 D RGD:9068941 20200609 RGD PMID:9122213|REF_RGD_ID:1599202 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:630 genetic disease ISO RGD:1319072 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:850 lung disease ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17200189 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:9000046 Poisoning ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20036648 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196815|PMID:25415046 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:1308982 D RGD:9068941 20220121 RGD PMID:30485360|REF_RGD_ID:39938998 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:9004707 Massive Hepatic Necrosis ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224054 8857967 Prkdc protein kinase, DNA-activated, catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1319072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224054 8858068 Il6r interleukin 6 receptor gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21859801|REF_RGD_ID:10402826 8858068 Il6r interleukin 6 receptor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8858068 Il6r interleukin 6 receptor gene DOID:0050847 sleep apnea ISO RGD:736525 D RGD:9068941 20200609 RGD PMID:16983050|REF_RGD_ID:5128666 8858068 Il6r interleukin 6 receptor gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 8858068 Il6r interleukin 6 receptor gene DOID:0111940 immunodeficiency 42 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8858068 Il6r interleukin 6 receptor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8858068 Il6r interleukin 6 receptor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8858068 Il6r interleukin 6 receptor gene DOID:10534 stomach cancer ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228145 (human) PMID:28442395|REF_RGD_ID:14975291 8858068 Il6r interleukin 6 receptor gene DOID:10652 Alzheimer's disease ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-530G>T, 48867A/>C (p.D358A, rs8192284) (human) PMID:20197062|REF_RGD_ID:10402810 8858068 Il6r interleukin 6 receptor gene DOID:10652 Alzheimer's disease ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, plasma PMID:12664314|REF_RGD_ID:10402808 8858068 Il6r interleukin 6 receptor gene DOID:10652 Alzheimer's disease no_association ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-208G>A (rs4845617) (human) PMID:20197062|REF_RGD_ID:10402810 8858068 Il6r interleukin 6 receptor gene DOID:10763 hypertension severity ISO RGD:736525 D RGD:9068941 20200609 RGD Hypertension, Pregnancy-Induced;protein:increased expression:serum PMID:11778537|REF_RGD_ID:1625432 8858068 Il6r interleukin 6 receptor gene DOID:11446 sciatic neuropathy ISO RGD:2902 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion PMID:20519054|REF_RGD_ID:5128675 8858068 Il6r interleukin 6 receptor gene DOID:11476 osteoporosis ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15995586 8858068 Il6r interleukin 6 receptor gene DOID:11832 visual epilepsy ISO RGD:2902 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12591161|REF_RGD_ID:1625441 8858068 Il6r interleukin 6 receptor gene DOID:12361 Graves' disease ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 8858068 Il6r interleukin 6 receptor gene DOID:12361 Graves' disease disease_progression ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:12818091|REF_RGD_ID:7829750 8858068 Il6r interleukin 6 receptor gene DOID:12858 Huntington's disease treatment ISO RGD:736525 D RGD:9068941 20200609 RGD PMID:11860469|REF_RGD_ID:10402809 8858068 Il6r interleukin 6 receptor gene DOID:13141 uveitis ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor: PMID:10420202|REF_RGD_ID:7829723 8858068 Il6r interleukin 6 receptor gene DOID:13207 proliferative diabetic retinopathy ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17401618|REF_RGD_ID:10402814 8858068 Il6r interleukin 6 receptor gene DOID:1540 parathyroid carcinoma ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8858068 Il6r interleukin 6 receptor gene DOID:1596 depressive disorder ISO RGD:2902 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:23589140|REF_RGD_ID:10402829 8858068 Il6r interleukin 6 receptor gene DOID:2518 orchitis ISO RGD:2902 D RGD:9068941 20200609 RGD protein:increased expression:male germ cell PMID:16458979|REF_RGD_ID:1625434 8858068 Il6r interleukin 6 receptor gene DOID:2841 asthma ISO RGD:10803 D RGD:9068941 20200609 RGD PMID:17496315|PMID:21115736|REF_RGD_ID:5128630|REF_RGD_ID:5128662 8858068 Il6r interleukin 6 receptor gene DOID:2841 asthma ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29902480 8858068 Il6r interleukin 6 receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:736525 D RGD:9068941 20200609 RGD protein:decreased expression:T cell PMID:20019339|REF_RGD_ID:5128632 8858068 Il6r interleukin 6 receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:10803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 8858068 Il6r interleukin 6 receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22552503 8858068 Il6r interleukin 6 receptor gene DOID:4450 renal cell carcinoma ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7834629 8858068 Il6r interleukin 6 receptor gene DOID:5419 schizophrenia ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8067274 8858068 Il6r interleukin 6 receptor gene DOID:5812 MHC class II deficiency ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8858068 Il6r interleukin 6 receptor gene DOID:5844 myocardial infarction ISO RGD:2902 D RGD:9068941 20200609 RGD PMID:12123772|REF_RGD_ID:1625444 8858068 Il6r interleukin 6 receptor gene DOID:6000 congestive heart failure ISO RGD:2902 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular hypothalamic nucleus PMID:17095650|REF_RGD_ID:1625433 8858068 Il6r interleukin 6 receptor gene DOID:630 genetic disease ISO RGD:736525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8858068 Il6r interleukin 6 receptor gene DOID:7148 rheumatoid arthritis ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16729287|PMID:23143596 8858068 Il6r interleukin 6 receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8858068 Il6r interleukin 6 receptor gene DOID:9000230 Hyper-IgE Recurrent Infection Syndrome 5 ISO RGD:736525 D RGD:7240710 20200812 OMIM 8858068 Il6r interleukin 6 receptor gene DOID:9000230 Hyper-IgE Recurrent Infection Syndrome 5 ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive PMID:25741868|PMID:28492532|PMID:31235509|PMID:8467812 8858068 Il6r interleukin 6 receptor gene DOID:9000972 Fever ISO RGD:10803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25429137 8858068 Il6r interleukin 6 receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2902 D RGD:9068941 20200609 RGD PMID:21492407|REF_RGD_ID:10402827 8858068 Il6r interleukin 6 receptor gene DOID:9002211 Hyperalgesia ISO RGD:2902 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:23953943|REF_RGD_ID:10402830 8858068 Il6r interleukin 6 receptor gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis treatment ISO RGD:736525 D RGD:9068941 20200609 RGD PMID:18358927|REF_RGD_ID:10402823 8858068 Il6r interleukin 6 receptor gene DOID:9004009 Reperfusion Injury ISO RGD:10803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 8858068 Il6r interleukin 6 receptor gene DOID:9004649 Heat Stroke ISO RGD:10803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8858068 Il6r interleukin 6 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:2902 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:2174054|REF_RGD_ID:729416 8858068 Il6r interleukin 6 receptor gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D358A PMID:16817825|REF_RGD_ID:1625430 8858068 Il6r interleukin 6 receptor gene DOID:9007355 Hashimoto Disease ISO RGD:736525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 8858068 Il6r interleukin 6 receptor gene DOID:9007692 Insulin Resistance ISO RGD:736525 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:14962155|REF_RGD_ID:1625431 8858068 Il6r interleukin 6 receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736525 D RGD:9068941 20200609 RGD PMID:16056242|REF_RGD_ID:1625435 8858068 Il6r interleukin 6 receptor gene DOID:9008523 Subretinal Fibrosis treatment ISO RGD:10803 D RGD:9068941 20200609 RGD PMID:24790857|REF_RGD_ID:10402815 8858068 Il6r interleukin 6 receptor gene DOID:9008680 Respiratory Tract Infections ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon:-183G>A (human) PMID:20951753|REF_RGD_ID:5128631 8858068 Il6r interleukin 6 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8858068 Il6r interleukin 6 receptor gene DOID:9970 obesity ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes:promoter:-208G>A (rs4845617) (human) PMID:17984249|REF_RGD_ID:10402807 8858068 Il6r interleukin 6 receptor gene DOID:9970 obesity ISO RGD:736525 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17434052|REF_RGD_ID:1625429 8858068 Il6r interleukin 6 receptor gene DOID:9970 obesity susceptibility ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:duplication PMID:12917504|REF_RGD_ID:1625428 8858068 Il6r interleukin 6 receptor gene DOID:9970 obesity susceptibility ISO RGD:736525 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D358A PMID:16817825|REF_RGD_ID:1625430 8858084 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1346484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8858084 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1346484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8858084 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:1909 melanoma ISO RGD:1346484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8858084 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8858084 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:2746 glycogen storage disease V ISO RGD:1346484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8858084 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:3070 high grade glioma ISO RGD:1346484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8858084 Gpha2 glycoprotein hormone subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1346484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858107 Pkib cAMP-dependent protein kinase inhibitor beta gene DOID:1826 epilepsy ISO RGD:736855 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8858107 Pkib cAMP-dependent protein kinase inhibitor beta gene DOID:630 genetic disease ISO RGD:736855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858150 Rab36 RAB36, member RAS oncogene family gene DOID:11198 DiGeorge syndrome ISO RGD:1347973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8858150 Rab36 RAB36, member RAS oncogene family gene DOID:5419 schizophrenia ISO RGD:1347973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8858150 Rab36 RAB36, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1347973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858183 Slc16a2 solute carrier family 16 member 2 gene DOID:0050631 Allan-Herndon-Dudley syndrome ISO RGD:737451 D RGD:7240710 20180130 OMIM 8858183 Slc16a2 solute carrier family 16 member 2 gene DOID:0050631 Allan-Herndon-Dudley syndrome ISO RGD:737451 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy PMID:12871948|PMID:14661163|PMID:15488219|PMID:15889350|PMID:15980113|PMID:1605231|PMID:16417886|PMID:17356046|PMID:18187543|PMID:18398436|PMID:18414213|PMID:18636565|PMID:20083155|PMID:20301789|PMID:23568789|PMID:23744248|PMID:24265446|PMID:24721225|PMID:25167861|PMID:25517855|PMID:25527620|PMID:25741868|PMID:27081503|PMID:27212794|PMID:27805744|PMID:28492532|PMID:30369548|PMID:31410843|PMID:31585110|PMID:31690835|PMID:32277047|PMID:32559475|PMID:33847015|PMID:8484404 8858183 Slc16a2 solute carrier family 16 member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 8858183 Slc16a2 solute carrier family 16 member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8858183 Slc16a2 solute carrier family 16 member 2 gene DOID:10283 prostate cancer ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8858183 Slc16a2 solute carrier family 16 member 2 gene DOID:1059 intellectual disability ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:28492532 8858183 Slc16a2 solute carrier family 16 member 2 gene DOID:12849 autistic disorder ISO RGD:737451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8858183 Slc16a2 solute carrier family 16 member 2 gene DOID:13580 cholestasis ISO RGD:737451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8858183 Slc16a2 solute carrier family 16 member 2 gene DOID:1459 hypothyroidism ISO RGD:737451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31121238 8858183 Slc16a2 solute carrier family 16 member 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:737451 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:20301789|PMID:23568789|PMID:24265446|PMID:24721225|PMID:25527620|PMID:25741868|PMID:27212794|PMID:28492532|PMID:28832565 8858183 Slc16a2 solute carrier family 16 member 2 gene DOID:607 paraplegia ISO RGD:737451 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15488219|PMID:15889350|PMID:15980113|PMID:16199547|PMID:16957765|PMID:17576681|PMID:17899191|PMID:18187543|PMID:18398436|PMID:18414213|PMID:19648159|PMID:19936787|PMID:20083155|PMID:20301789|PMID:21835051|PMID:23568789|PMID:23744248|PMID:24265446|PMID:24721225|PMID:25222753|PMID:25527620|PMID:25741868|PMID:27212794|PMID:27805744|PMID:27977298|PMID:28492532|PMID:29714107|PMID:30369548|PMID:31410843|PMID:32559475|PMID:9536098 8858183 Slc16a2 solute carrier family 16 member 2 gene DOID:630 genetic disease ISO RGD:737451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15980113|PMID:16974106|PMID:18398436|PMID:18414213|PMID:18636565|PMID:19194886|PMID:20301789|PMID:21835051|PMID:23568789|PMID:24265446|PMID:24721225|PMID:25527620|PMID:25741868|PMID:27212794|PMID:27805744|PMID:28492532 8858193 Rpl7 ribosomal protein L7 gene DOID:630 genetic disease ISO RGD:1350931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858226 Mfap5 microfibril associated protein 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1317391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8858226 Mfap5 microfibril associated protein 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8858226 Mfap5 microfibril associated protein 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8858226 Mfap5 microfibril associated protein 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8858226 Mfap5 microfibril associated protein 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8858226 Mfap5 microfibril associated protein 5 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25434006|PMID:25741868 8858226 Mfap5 microfibril associated protein 5 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1317391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25434006|PMID:25741868|PMID:28492532|PMID:33824467 8858226 Mfap5 microfibril associated protein 5 gene DOID:630 genetic disease ISO RGD:1317391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8858226 Mfap5 microfibril associated protein 5 gene DOID:65 connective tissue disease ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 8858226 Mfap5 microfibril associated protein 5 gene DOID:9006654 Familial Thoracic Aortic Aneurysm 9 ISO RGD:1317391 D RGD:7240710 20180130 OMIM 8858226 Mfap5 microfibril associated protein 5 gene DOID:9006654 Familial Thoracic Aortic Aneurysm 9 ISO RGD:1317391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 | ClinVar Annotator: match by term: MFAP5-related condition PMID:25434006|PMID:25741868|PMID:28492532|PMID:33824467 8858226 Mfap5 microfibril associated protein 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8858240 Slc5a3 solute carrier family 5 member 3 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:734339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8858240 Slc5a3 solute carrier family 5 member 3 gene DOID:0060898 Parkinson's disease 20 ISO RGD:734339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8858240 Slc5a3 solute carrier family 5 member 3 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:734339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8858240 Slc5a3 solute carrier family 5 member 3 gene DOID:1588 thrombocytopenia ISO RGD:734339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 8858240 Slc5a3 solute carrier family 5 member 3 gene DOID:3312 bipolar disorder ISO RGD:734339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16420717 8858240 Slc5a3 solute carrier family 5 member 3 gene DOID:3393 coronary artery disease ISO RGD:734339 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8858240 Slc5a3 solute carrier family 5 member 3 gene DOID:4450 renal cell carcinoma ISO RGD:734339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 8858240 Slc5a3 solute carrier family 5 member 3 gene DOID:630 genetic disease ISO RGD:734339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858240 Slc5a3 solute carrier family 5 member 3 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:734339 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome PMID:32581362 8858240 Slc5a3 solute carrier family 5 member 3 gene DOID:9005698 ZTTK Syndrome ISO RGD:734339 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1320014 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320014 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:27596865|PMID:28492532|PMID:31456290 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:0050795 cone dystrophy ISO RGD:1320014 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:26167768|PMID:26974433|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:34906470 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:0112299 axial spondylometaphyseal dysplasia ISO RGD:1320014 D RGD:7240710 20200506 OMIM 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:0112299 axial spondylometaphyseal dysplasia ISO RGD:1320014 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia PMID:11702989|PMID:20503334|PMID:21910225|PMID:23105016|PMID:25741868|PMID:26167768|PMID:26974433|PMID:27548899|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:33307614|PMID:34906470 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:10584 retinitis pigmentosa ISO RGD:1320014 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:23105016|PMID:25741868|PMID:26167768|PMID:26974433|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:34906470|PMID:36909829 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:12849 autistic disorder ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:8501 fundus dystrophy ISO RGD:1320014 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:23105016|PMID:25741868|PMID:26167768|PMID:26974433|PMID:26992781|PMID:27548899|PMID:27596865|PMID:28041643|PMID:28422394|PMID:28492532|PMID:30029497|PMID:32036094|PMID:33307614|PMID:34906470|PMID:36909829|PMID:9536098 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:9007941 Retinal Dystrophy with or without Macular Staphyloma ISO RGD:1320014 D RGD:7240710 20190315 OMIM 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:9007941 Retinal Dystrophy with or without Macular Staphyloma ISO RGD:1320014 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CFAP410-related condition | ClinVar Annotator: match by term: Retinal dystrophy with or without macular staphyloma PMID:11702989|PMID:16199547|PMID:17576681|PMID:21910225|PMID:23105016|PMID:25741868|PMID:26167768|PMID:26294103|PMID:26974433|PMID:26992781|PMID:27548899|PMID:27596865|PMID:28005958|PMID:28041643|PMID:28422394|PMID:28492532|PMID:32036094|PMID:34906470|PMID:34915818|PMID:9536098 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:9263 homocystinuria ISO RGD:1320014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8858256 Cfap410 cilia and flagella associated protein 410 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320014 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8858267 Wipi2 WD repeat domain, phosphoinositide interacting 2 gene DOID:11372 megacolon ISO RGD:1606810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8858267 Wipi2 WD repeat domain, phosphoinositide interacting 2 gene DOID:630 genetic disease ISO RGD:1606810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858267 Wipi2 WD repeat domain, phosphoinositide interacting 2 gene DOID:9007433 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES ISO RGD:1606810 D RGD:7240710 20190918 OMIM 8858267 Wipi2 WD repeat domain, phosphoinositide interacting 2 gene DOID:9007433 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES ISO RGD:1606810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and variable skeletal anomalies PMID:25741868|PMID:30968111 8858319 Tigar TP53 induced glycolysis regulatory phosphatase gene DOID:0050989 episodic ataxia type 1 ISO RGD:1317526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8858319 Tigar TP53 induced glycolysis regulatory phosphatase gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1317526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8858319 Tigar TP53 induced glycolysis regulatory phosphatase gene DOID:630 genetic disease ISO RGD:1317526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858319 Tigar TP53 induced glycolysis regulatory phosphatase gene DOID:9002955 Nerve Degeneration ISO RGD:1317526 D RGD:9068941 20210604 CTD CTD Direct Evidence: therapeutic PMID:33359019 8858319 Tigar TP53 induced glycolysis regulatory phosphatase gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8858332 Ptprs protein tyrosine phosphatase receptor type S gene DOID:0080600 COVID-19 ISO RGD:734357 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8858332 Ptprs protein tyrosine phosphatase receptor type S gene DOID:630 genetic disease ISO RGD:734357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858332 Ptprs protein tyrosine phosphatase receptor type S gene DOID:9004538 Hearing Loss ISO RGD:734357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 8858332 Ptprs protein tyrosine phosphatase receptor type S gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:734357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 8858369 Ildr2 immunoglobulin like domain containing receptor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8858369 Ildr2 immunoglobulin like domain containing receptor 2 gene DOID:630 genetic disease ISO RGD:1345788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858369 Ildr2 immunoglobulin like domain containing receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8858383 Nxph1 neurexophilin 1 gene DOID:630 genetic disease ISO RGD:737134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858390 Adgrg3 adhesion G protein-coupled receptor G3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313843 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8858390 Adgrg3 adhesion G protein-coupled receptor G3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313843 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8858390 Adgrg3 adhesion G protein-coupled receptor G3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8858390 Adgrg3 adhesion G protein-coupled receptor G3 gene DOID:630 genetic disease ISO RGD:1313843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858406 Septin8 septin 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8858406 Septin8 septin 8 gene DOID:630 genetic disease ISO RGD:1318222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858406 Septin8 septin 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8858406 Septin8 septin 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318222 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8858436 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1322701 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8858436 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:0080600 COVID-19 ISO RGD:1322701 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8858436 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:543 dystonia ISO RGD:1322701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8858436 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:6000 congestive heart failure ISO RGD:1322701 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8858436 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:630 genetic disease ISO RGD:1322701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858436 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:684 hepatocellular carcinoma ISO RGD:1311313 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:3878730|REF_RGD_ID:2302305 8858436 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:8567 Hodgkin's lymphoma ISO RGD:1322701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24688052 8858436 Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1322701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8858448 Slf2 SMC5-SMC6 complex localization factor 2 gene DOID:630 genetic disease ISO RGD:1349080 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8858448 Slf2 SMC5-SMC6 complex localization factor 2 gene DOID:9006377 Mosaic Variegated Aneuploidy Syndrome 5 ISO RGD:1349080 D RGD:7240710 20230125 OMIM 8858448 Slf2 SMC5-SMC6 complex localization factor 2 gene DOID:9006377 Mosaic Variegated Aneuploidy Syndrome 5 ISO RGD:1349080 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atelis syndrome 1 PMID:36333305 8858480 Fam219b family with sequence similarity 219 member B gene DOID:0080554 congenital disorder of glycosylation Ib ISO RGD:1321800 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome 8858480 Fam219b family with sequence similarity 219 member B gene DOID:2717 Bloom syndrome ISO RGD:1321800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8858480 Fam219b family with sequence similarity 219 member B gene DOID:5419 schizophrenia ISO RGD:1321800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8858480 Fam219b family with sequence similarity 219 member B gene DOID:630 genetic disease ISO RGD:1321800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858480 Fam219b family with sequence similarity 219 member B gene DOID:9256 colorectal cancer ISO RGD:1321800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8858489 Hbq1 hemoglobin subunit theta 1 gene DOID:1099 alpha thalassemia ISO RGD:1313995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: alpha Thalassemia PMID:10602170|PMID:11017952|PMID:12393486|PMID:1553958|PMID:15650030|PMID:20154289|PMID:21599435|PMID:2318293|PMID:23590659|PMID:24025420|PMID:28791910|PMID:30864493|PMID:3191033|PMID:538560|PMID:7910813|PMID:8781536 8858489 Hbq1 hemoglobin subunit theta 1 gene DOID:630 genetic disease ISO RGD:1313995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858498 Art5 ADP-ribosyltransferase 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8858498 Art5 ADP-ribosyltransferase 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347628 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8858498 Art5 ADP-ribosyltransferase 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8858498 Art5 ADP-ribosyltransferase 5 gene DOID:630 genetic disease ISO RGD:1347628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858507 Ift20 intraflagellar transport 20 gene DOID:630 genetic disease ISO RGD:1605017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858533 Cdk17 cyclin dependent kinase 17 gene DOID:2377 multiple sclerosis ISO RGD:1343326 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8858533 Cdk17 cyclin dependent kinase 17 gene DOID:630 genetic disease ISO RGD:1343326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858559 Minar2 membrane integral NOTCH2 associated receptor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2291767 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8858559 Minar2 membrane integral NOTCH2 associated receptor 2 gene DOID:14330 Parkinson's disease ISO RGD:1323760 D RGD:9068941 20220825 MouseDO 8858559 Minar2 membrane integral NOTCH2 associated receptor 2 gene DOID:9000161 Autosomal Recessive Nonsyndromic Deafness 120 ISO RGD:2291767 D RGD:7240710 20230215 OMIM 8858559 Minar2 membrane integral NOTCH2 associated receptor 2 gene DOID:9000161 Autosomal Recessive Nonsyndromic Deafness 120 ISO RGD:2291767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 120 PMID:35727972 8858559 Minar2 membrane integral NOTCH2 associated receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2291767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8858559 Minar2 membrane integral NOTCH2 associated receptor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2291767 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8858566 Vps37a VPS37A subunit of ESCRT-I gene DOID:0080743 transverse myelitis ISO RGD:1604528 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic transverse myelitis PMID:25741868|PMID:28492532|PMID:29473047 8858566 Vps37a VPS37A subunit of ESCRT-I gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1604528 D RGD:7240710 20180130 OMIM 8858566 Vps37a VPS37A subunit of ESCRT-I gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1604528 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:16199547|PMID:17576681|PMID:22717650|PMID:25741868|PMID:28492532|PMID:29473047|PMID:34779508|PMID:9536098 8858566 Vps37a VPS37A subunit of ESCRT-I gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 8858566 Vps37a VPS37A subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1604528 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34779508 8858584 Cystm1 cysteine rich transmembrane module containing 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1603605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8858584 Cystm1 cysteine rich transmembrane module containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8858584 Cystm1 cysteine rich transmembrane module containing 1 gene DOID:630 genetic disease ISO RGD:1603605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858584 Cystm1 cysteine rich transmembrane module containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8858584 Cystm1 cysteine rich transmembrane module containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8858584 Cystm1 cysteine rich transmembrane module containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1346589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:0111841 Shukla-Vernon syndrome ISO RGD:1346589 D RGD:7240710 20190821 OMIM 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:0111841 Shukla-Vernon syndrome ISO RGD:1346589 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Shukla-Vernon syndrome PMID:24047651|PMID:24896186|PMID:25596268|PMID:25741868|PMID:26132940|PMID:26879601|PMID:26980726|PMID:27470916|PMID:28492532|PMID:29692343|PMID:30941876|PMID:33810051|PMID:34716235|PMID:35178361 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:1059 intellectual disability ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:12849 autistic disorder ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:1826 epilepsy ISO RGD:1346589 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:2154 nephroblastoma ISO RGD:1346589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1346589 D RGD:9068941 20210903 RGD PMID:26648304|REF_RGD_ID:11342082 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:630 genetic disease ISO RGD:1346589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346589 D RGD:9068941 20210903 RGD PMID:26879601|PMID:29679906|REF_RGD_ID:11556159|REF_RGD_ID:150340705 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346589 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8858591 Bcorl1 BCL6 corepressor like 1 gene DOID:9538 multiple myeloma ISO RGD:1346589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8858621 Cast calpastatin gene DOID:0070526 PLACK syndrome ISO RGD:737362 D RGD:7240710 20180130 OMIM 8858621 Cast calpastatin gene DOID:0070526 PLACK syndrome ISO RGD:737362 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PMID:25683118|PMID:25741868|PMID:28492532|PMID:3527073 8858621 Cast calpastatin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737362 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8858621 Cast calpastatin gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:17853947|REF_RGD_ID:5509810 8858621 Cast calpastatin gene DOID:0111698 proprotein convertase 1/3 deficiency ISO RGD:737362 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Obesity due to prohormone convertase I deficiency | ClinVar Annotator: match by term: PCSK1-related condition | ClinVar Annotator: match by term: Proprotein convertase 1/3 deficiency PMID:14617756|PMID:17595246|PMID:22210313|PMID:23383060|PMID:23562752|PMID:24041679|PMID:24135795|PMID:24932808|PMID:25272002|PMID:25741868|PMID:26786350|PMID:27187081|PMID:28377240|PMID:28492532|PMID:30383237|PMID:9207799 8858621 Cast calpastatin gene DOID:10652 Alzheimer's disease ISO RGD:10292 D RGD:9068941 20200609 RGD PMID:20595388|REF_RGD_ID:5509799 8858621 Cast calpastatin gene DOID:10652 Alzheimer's disease ISO RGD:737362 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:19020018|REF_RGD_ID:5509809 8858621 Cast calpastatin gene DOID:12894 Sjogren's syndrome ISO RGD:737362 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:15540513|REF_RGD_ID:5683622 8858621 Cast calpastatin gene DOID:14067 Plasmodium falciparum malaria ISO RGD:737362 D RGD:9068941 20200609 RGD protein:alter localization:erythrocyte PMID:17359359|REF_RGD_ID:5509812 8858621 Cast calpastatin gene DOID:14069 cerebral malaria ISO RGD:10292 D RGD:9068941 20200609 RGD protein:increased express:brain PMID:16236382|REF_RGD_ID:5509817 8858621 Cast calpastatin gene DOID:14330 Parkinson's disease ISO RGD:737362 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1559085) (human) PMID:20127884|REF_RGD_ID:5509800 8858621 Cast calpastatin gene DOID:14330 Parkinson's disease ISO RGD:737362 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra, dopaminergic neuron PMID:10722997|REF_RGD_ID:5683320 8858621 Cast calpastatin gene DOID:2316 brain ischemia ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:16467455|REF_RGD_ID:5509813 8858621 Cast calpastatin gene DOID:630 genetic disease ISO RGD:737362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8858621 Cast calpastatin gene DOID:7148 rheumatoid arthritis ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:7706496|REF_RGD_ID:5683620 8858621 Cast calpastatin gene DOID:820 myocarditis ISO RGD:737362 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34365571 8858621 Cast calpastatin gene DOID:865 vasculitis ISO RGD:737362 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:12367559|REF_RGD_ID:5683623 8858621 Cast calpastatin gene DOID:8893 psoriasis ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:15654835|REF_RGD_ID:5509819 8858621 Cast calpastatin gene DOID:9000220 Coxsackievirus Infections ISO RGD:737362 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34365571 8858621 Cast calpastatin gene DOID:9000998 Brain Injuries severity ISO RGD:2278 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15307896|REF_RGD_ID:5509821 8858621 Cast calpastatin gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737362 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34365571 8858621 Cast calpastatin gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:10318818|REF_RGD_ID:5683321 8858621 Cast calpastatin gene DOID:9004009 Reperfusion Injury ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:11035539|REF_RGD_ID:5509823 8858621 Cast calpastatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8858621 Cast calpastatin gene DOID:9004484 Sepsis ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:15563579|REF_RGD_ID:5683871 8858621 Cast calpastatin gene DOID:9004590 Acute Liver Failure ISO RGD:737362 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16871587 8858621 Cast calpastatin gene DOID:9005749 Necrosis ISO RGD:737362 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17323976 8858621 Cast calpastatin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737362 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8858621 Cast calpastatin gene DOID:9007096 Stroke ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:20116408|REF_RGD_ID:5509801 8858621 Cast calpastatin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:16871587|REF_RGD_ID:5683869 8858621 Cast calpastatin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2278 D RGD:9068941 20200609 RGD PMID:12482022|REF_RGD_ID:5683872 8858621 Cast calpastatin gene DOID:9074 systemic lupus erythematosus ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:12367559|REF_RGD_ID:5683623 8858621 Cast calpastatin gene DOID:9182 pemphigus ISO RGD:737362 D RGD:9068941 20200609 RGD PMID:16314468|REF_RGD_ID:5509814 8858621 Cast calpastatin gene DOID:9281 phenylketonuria ISO RGD:10292 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:15863237|REF_RGD_ID:5509818 8858621 Cast calpastatin gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737362 D RGD:9068941 20200609 RGD protein:increased expresssion:B cell PMID:11264179|REF_RGD_ID:5509822 8858621 Cast calpastatin gene DOID:9970 obesity ISO RGD:737362 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Body mass index quantitative trait locus 12 | ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency PMID:18604207|PMID:22210313|PMID:23383060|PMID:25741868|PMID:28492532 8858621 Cast calpastatin gene DOID:9970 obesity ISO RGD:737362 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity PMID:25741868|PMID:28492532 8858668 LOC102011844 cytochrome c oxidase assembly factor 1 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8858668 LOC102011844 cytochrome c oxidase assembly factor 1 homolog gene DOID:630 genetic disease ISO RGD:1601863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858683 Cdk5r2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8858683 Cdk5r2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8858683 Cdk5r2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8858683 Cdk5r2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8858683 Cdk5r2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1349470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858683 Cdk5r2 cyclin dependent kinase 5 regulatory subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8858689 Tafa1 TAFA chemokine like family member 1 gene DOID:630 genetic disease ISO RGD:1347131 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858720 Cuedc2 CUE domain containing 2 gene DOID:630 genetic disease ISO RGD:1317669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858743 Lrrn4 leucine rich repeat neuronal 4 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313178 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8858743 Lrrn4 leucine rich repeat neuronal 4 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8858743 Lrrn4 leucine rich repeat neuronal 4 gene DOID:630 genetic disease ISO RGD:1313178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:0111590 Cohen syndrome ISO RGD:1605385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:10534 stomach cancer exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD mRNA:increased expression:stomach (human) PMID:32934672|REF_RGD_ID:151665189 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:1612 breast cancer exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD human gene in a mouse cell line and mouse model PMID:28330927|REF_RGD_ID:151665194 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:219 colon cancer exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD mRNA:increased expression:colon (human) PMID:29441938|REF_RGD_ID:151665201 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:29296225|REF_RGD_ID:151665195 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:234 colon adenocarcinoma severity ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:28856538|REF_RGD_ID:151665199 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:2600 laryngeal carcinoma exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD mRNA, protein:increased expression:larynx (human) PMID:32468011|REF_RGD_ID:151665191 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:2843 long QT syndrome ISO RGD:1605385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3008 invasive ductal carcinoma ISO RGD:1605385 D RGD:9068941 20200609 RGD DNA:mutation:CDS:multiple nonsynonymous mutations PMID:14871824|REF_RGD_ID:2306813 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:27590582|REF_RGD_ID:151665193 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1605385 D RGD:9068941 20220317 RGD circRNA:decreased expression:lung (human) PMID:29944885|REF_RGD_ID:151665198 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:32867711|REF_RGD_ID:151665200 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:4948 gallbladder carcinoma ameliorates ISO RGD:1605385 D RGD:9068941 20220317 RGD human cell line in a mouse model PMID:30775814|REF_RGD_ID:151665192 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:630 genetic disease ISO RGD:1605385 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8858755 Ubr5 ubiquitin protein ligase E3 component n-recognin 5 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1552737 D RGD:9068941 20220324 RGD PMID:32087767|REF_RGD_ID:151665344 8858835 Mzb1 marginal zone B and B1 cell specific protein gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8858835 Mzb1 marginal zone B and B1 cell specific protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8858835 Mzb1 marginal zone B and B1 cell specific protein gene DOID:0080600 COVID-19 ISO RGD:1605681 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8858835 Mzb1 marginal zone B and B1 cell specific protein gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1605681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8858835 Mzb1 marginal zone B and B1 cell specific protein gene DOID:630 genetic disease ISO RGD:1605681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858835 Mzb1 marginal zone B and B1 cell specific protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8858835 Mzb1 marginal zone B and B1 cell specific protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8858855 Uchl3 ubiquitin C-terminal hydrolase L3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:731673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8858855 Uchl3 ubiquitin C-terminal hydrolase L3 gene DOID:2367 neuroaxonal dystrophy ISO RGD:736277 D RGD:9068941 20200609 RGD PMID:11555633|REF_RGD_ID:1302546 8858855 Uchl3 ubiquitin C-terminal hydrolase L3 gene DOID:630 genetic disease ISO RGD:731673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858855 Uchl3 ubiquitin C-terminal hydrolase L3 gene DOID:9000123 Deglutition Disorders ISO RGD:731674 D RGD:9068941 20200609 RGD PMID:11555633|REF_RGD_ID:1302546 8858855 Uchl3 ubiquitin C-terminal hydrolase L3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 8858855 Uchl3 ubiquitin C-terminal hydrolase L3 gene DOID:9002955 Nerve Degeneration ISO RGD:731674 D RGD:9068941 20200609 RGD PMID:11555633|REF_RGD_ID:1302546 8858887 Gcc1 GRIP and coiled-coil domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8858887 Gcc1 GRIP and coiled-coil domain containing 1 gene DOID:5062 phencyclidine abuse ISO RGD:1352654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8858887 Gcc1 GRIP and coiled-coil domain containing 1 gene DOID:630 genetic disease ISO RGD:1352654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858887 Gcc1 GRIP and coiled-coil domain containing 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8858887 Gcc1 GRIP and coiled-coil domain containing 1 gene DOID:9505 cannabis abuse ISO RGD:1352654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8858913 LOC102023301 olfactory receptor 4Q3 gene DOID:630 genetic disease ISO RGD:1344620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858917 Znrf1 zinc and ring finger 1 gene DOID:2565 macular corneal dystrophy ISO RGD:1349961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 8858917 Znrf1 zinc and ring finger 1 gene DOID:607 paraplegia ISO RGD:1349961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8858917 Znrf1 zinc and ring finger 1 gene DOID:630 genetic disease ISO RGD:1349961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858917 Znrf1 zinc and ring finger 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8858932 Sf3b6 splicing factor 3b subunit 6 gene DOID:630 genetic disease ISO RGD:1602118 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858947 Mzt1 mitotic spindle organizing protein 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2300357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8858947 Mzt1 mitotic spindle organizing protein 1 gene DOID:630 genetic disease ISO RGD:2300357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858955 Gkn1 gastrokine 1 gene DOID:299 adenocarcinoma ISO RGD:1351595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8858955 Gkn1 gastrokine 1 gene DOID:5119 ovarian cyst ISO RGD:1351595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8858955 Gkn1 gastrokine 1 gene DOID:630 genetic disease ISO RGD:1351595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858955 Gkn1 gastrokine 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8858964 Ifitm5 interferon induced transmembrane protein 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8858964 Ifitm5 interferon induced transmembrane protein 5 gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1606092 D RGD:7240710 20180130 OMIM 8858964 Ifitm5 interferon induced transmembrane protein 5 gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1606092 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 PMID:22863190|PMID:22863195|PMID:23977282|PMID:24478195|PMID:24519609|PMID:25251575|PMID:25741868|PMID:28492532|PMID:28725987|PMID:29595812|PMID:30985308|PMID:31099171|PMID:31159867|PMID:32383316|PMID:34567078 8858964 Ifitm5 interferon induced transmembrane protein 5 gene DOID:0111969 immunodeficiency 39 ISO RGD:1606092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8858964 Ifitm5 interferon induced transmembrane protein 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8858964 Ifitm5 interferon induced transmembrane protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1606092 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:31099171|PMID:31159867|PMID:32383316 8858964 Ifitm5 interferon induced transmembrane protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1606092 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:28725987|PMID:31099171|PMID:31159867|PMID:32383316 8858964 Ifitm5 interferon induced transmembrane protein 5 gene DOID:630 genetic disease ISO RGD:1606092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8858964 Ifitm5 interferon induced transmembrane protein 5 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1606092 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:28725987|PMID:31099171|PMID:31159867|PMID:32383316 8858971 Sema3b semaphorin 3B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8858971 Sema3b semaphorin 3B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8858971 Sema3b semaphorin 3B gene DOID:630 genetic disease ISO RGD:1320778 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8858971 Sema3b semaphorin 3B gene DOID:769 neuroblastoma ISO RGD:1320778 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17452250 8858971 Sema3b semaphorin 3B gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8858971 Sema3b semaphorin 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8858971 Sema3b semaphorin 3B gene DOID:9007715 Endometrial Neoplasms ISO RGD:1320778 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21933904 8858971 Sema3b semaphorin 3B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320778 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8858992 Tspoap1 TSPO associated protein 1 gene DOID:0080600 COVID-19 ISO RGD:1346920 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8858992 Tspoap1 TSPO associated protein 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1346920 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8858992 Tspoap1 TSPO associated protein 1 gene DOID:1059 intellectual disability ISO RGD:1346920 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33539324|PMID:37071997 8858992 Tspoap1 TSPO associated protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346920 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 8858992 Tspoap1 TSPO associated protein 1 gene DOID:543 dystonia ISO RGD:1346920 D RGD:8554872 20230523 ClinVar ClinVar Annotator: match by term: TSPOAP1-related Dystonia 8858992 Tspoap1 TSPO associated protein 1 gene DOID:630 genetic disease ISO RGD:1346920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8858992 Tspoap1 TSPO associated protein 1 gene DOID:9000446 Dystonia 22, Juvenile-Onset ISO RGD:1346920 D RGD:7240710 20230726 OMIM 8858992 Tspoap1 TSPO associated protein 1 gene DOID:9000446 Dystonia 22, Juvenile-Onset ISO RGD:1346920 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Dystonia 22, juvenile-onset PMID:33539324 8858992 Tspoap1 TSPO associated protein 1 gene DOID:9004025 Dystonia 22, Adult-Onset ISO RGD:1346920 D RGD:7240710 20230809 OMIM 8858992 Tspoap1 TSPO associated protein 1 gene DOID:9004025 Dystonia 22, Adult-Onset ISO RGD:1346920 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Dystonia 22, adult-onset PMID:33539324 8858992 Tspoap1 TSPO associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346920 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33539324 8859033 Sema3d semaphorin 3D gene DOID:0050834 CHARGE syndrome ISO RGD:1348225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 8859033 Sema3d semaphorin 3D gene DOID:10003 sensorineural hearing loss ISO RGD:1348225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 8859033 Sema3d semaphorin 3D gene DOID:10487 Hirschsprung's disease ISO RGD:1348225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 8859033 Sema3d semaphorin 3D gene DOID:1826 epilepsy ISO RGD:1348225 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 8859033 Sema3d semaphorin 3D gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8859033 Sema3d semaphorin 3D gene DOID:630 genetic disease ISO RGD:1348225 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8859052 Mef2d myocyte enhancer factor 2D gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8859052 Mef2d myocyte enhancer factor 2D gene DOID:0111940 immunodeficiency 42 ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8859052 Mef2d myocyte enhancer factor 2D gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8859052 Mef2d myocyte enhancer factor 2D gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8859052 Mef2d myocyte enhancer factor 2D gene DOID:12783 migraine without aura ISO RGD:733415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 8859052 Mef2d myocyte enhancer factor 2D gene DOID:1324 lung cancer treatment ISO RGD:733415 D RGD:9068941 20220224 RGD human cells in mouse model PMID:25472877|REF_RGD_ID:151361106 8859052 Mef2d myocyte enhancer factor 2D gene DOID:1540 parathyroid carcinoma ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8859052 Mef2d myocyte enhancer factor 2D gene DOID:5812 MHC class II deficiency ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8859052 Mef2d myocyte enhancer factor 2D gene DOID:630 genetic disease ISO RGD:733415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859052 Mef2d myocyte enhancer factor 2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8859072 Bank1 B cell scaffold protein with ankyrin repeats 1 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10516487,rs17266594,rs3733197(human) PMID:19815934|REF_RGD_ID:9684975 8859072 Bank1 B cell scaffold protein with ankyrin repeats 1 gene DOID:3633 beta-mannosidosis ISO RGD:1342509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 8859072 Bank1 B cell scaffold protein with ankyrin repeats 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10516487,rs17266594(human) PMID:19815934|REF_RGD_ID:9684975 8859072 Bank1 B cell scaffold protein with ankyrin repeats 1 gene DOID:630 genetic disease ISO RGD:1342509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859072 Bank1 B cell scaffold protein with ankyrin repeats 1 gene DOID:7188 autoimmune thyroiditis onset ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNP: :rs3733197(human) PMID:24127308|REF_RGD_ID:9684981 8859072 Bank1 B cell scaffold protein with ankyrin repeats 1 gene DOID:8893 psoriasis susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:haplotype: : rs10516487, rs3733197, rs17266594(human) PMID:21989138|REF_RGD_ID:9684977 8859072 Bank1 B cell scaffold protein with ankyrin repeats 1 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNP: :rs3733197(human) PMID:24127308|REF_RGD_ID:9684981 8859072 Bank1 B cell scaffold protein with ankyrin repeats 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1342509 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 8859072 Bank1 B cell scaffold protein with ankyrin repeats 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNPs:introns: PMID:18204447|REF_RGD_ID:9684976 8859072 Bank1 B cell scaffold protein with ankyrin repeats 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1342509 D RGD:9068941 20200609 RGD DNA:SNP: :rs3733197(human) PMID:24342660|REF_RGD_ID:9684973 8859092 Stx11 syntaxin 11 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1312365 D RGD:7240710 20180130 OMIM 8859092 Stx11 syntaxin 11 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1312365 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:15703195|PMID:16582076|PMID:17525286|PMID:19967551|PMID:20486178|PMID:24033266|PMID:24459464|PMID:24524345|PMID:24916509|PMID:25741868|PMID:26004995|PMID:26176172|PMID:28492532|PMID:28750028|PMID:29113160|PMID:29665027|PMID:30899265 8859092 Stx11 syntaxin 11 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1312365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:15703195 8859092 Stx11 syntaxin 11 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1312365 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24524345|PMID:25741868|PMID:28492532 8859092 Stx11 syntaxin 11 gene DOID:630 genetic disease ISO RGD:1312365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8859092 Stx11 syntaxin 11 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1312365 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis PMID:20486178|PMID:24033266|PMID:25741868|PMID:28492532 8859097 Slc27a2 solute carrier family 27 member 2 gene DOID:2717 Bloom syndrome ISO RGD:1346073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8859097 Slc27a2 solute carrier family 27 member 2 gene DOID:630 genetic disease ISO RGD:1346073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859097 Slc27a2 solute carrier family 27 member 2 gene DOID:9000784 Fibrosis ISO RGD:1346073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28871336 8859097 Slc27a2 solute carrier family 27 member 2 gene DOID:9256 colorectal cancer ISO RGD:1346073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8859111 Smim19 small integral membrane protein 19 gene DOID:0090039 torsion dystonia 6 ISO RGD:1602660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 8859111 Smim19 small integral membrane protein 19 gene DOID:0111959 immunodeficiency 15B ISO RGD:1602660 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8859111 Smim19 small integral membrane protein 19 gene DOID:630 genetic disease ISO RGD:1602660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859111 Smim19 small integral membrane protein 19 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1602660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 8859111 Smim19 small integral membrane protein 19 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1602660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8859128 Penk proenkephalin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8859128 Penk proenkephalin gene DOID:0060564 spinal disease ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus: PMID:11501038|REF_RGD_ID:10003114 8859128 Penk proenkephalin gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:68998 D RGD:9068941 20200609 RGD PMID:23316929|REF_RGD_ID:10003040 8859128 Penk proenkephalin gene DOID:14330 Parkinson's disease ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum: PMID:11501038|REF_RGD_ID:10003114 8859128 Penk proenkephalin gene DOID:1574 alcohol use disorder ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal lobe: PMID:22703995|REF_RGD_ID:10003152 8859128 Penk proenkephalin gene DOID:1826 epilepsy ISO RGD:68946 D RGD:9068941 20231026 RGD mRNA:increased expression:striatum PMID:7898641|REF_RGD_ID:401851050 8859128 Penk proenkephalin gene DOID:2559 opiate dependence ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10321497 8859128 Penk proenkephalin gene DOID:543 dystonia ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum: PMID:22595488|REF_RGD_ID:10003100 8859128 Penk proenkephalin gene DOID:630 genetic disease ISO RGD:68998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859128 Penk proenkephalin gene DOID:863 nervous system disease ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12030189 8859128 Penk proenkephalin gene DOID:8986 narcolepsy ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 8859128 Penk proenkephalin gene DOID:9000641 Pain ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15833551 8859128 Penk proenkephalin gene DOID:9002211 Hyperalgesia treatment ISO RGD:68998 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:23235561|REF_RGD_ID:10003116 8859128 Penk proenkephalin gene DOID:9002304 Prostatic Neoplasms ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8859128 Penk proenkephalin gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:21928671|REF_RGD_ID:10003115 8859128 Penk proenkephalin gene DOID:9002916 Hyperphagia ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:20603139|REF_RGD_ID:10003144 8859128 Penk proenkephalin gene DOID:9003805 Catalepsy treatment ISO RGD:68946 D RGD:9068941 20231026 RGD PMID:17224239|REF_RGD_ID:401851052 8859128 Penk proenkephalin gene DOID:9006604 Anhedonia ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:24090157|REF_RGD_ID:10003087 8859128 Penk proenkephalin gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:21247719|REF_RGD_ID:10003103 8859128 Penk proenkephalin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:68946 D RGD:9068941 20200609 RGD mRNA:increased expression:brain:striatum: PMID:20456008|REF_RGD_ID:10003039 8859128 Penk proenkephalin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:68998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9767399 8859128 Penk proenkephalin gene DOID:9008394 Drug-Induced Dyskinesia disease_progression ISO RGD:68946 D RGD:9068941 20231026 RGD associated with Parkinsonism;mRNA:increased expression:striatum PMID:26113400|REF_RGD_ID:401851054 8859128 Penk proenkephalin gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:68946 D RGD:9068941 20231109 RGD associated with Parkinsonism PMID:10869049|REF_RGD_ID:401900134 8859128 Penk proenkephalin gene DOID:9008820 Visceral Pain treatment ISO RGD:68998 D RGD:9068941 20200609 RGD PMID:23316929|REF_RGD_ID:10003040 8859128 Penk proenkephalin gene DOID:9976 heroin dependence ISO RGD:68946 D RGD:9068941 20200609 RGD PMID:22683090|REF_RGD_ID:10003025 8859132 Las1l LAS1 like ribosome biogenesis factor gene DOID:0060041 autism spectrum disorder ISO RGD:1354295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8859132 Las1l LAS1 like ribosome biogenesis factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8859132 Las1l LAS1 like ribosome biogenesis factor gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1354295 D RGD:7240710 20190315 OMIM 8859132 Las1l LAS1 like ribosome biogenesis factor gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1354295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wilson-Turner syndrome PMID:1746601|PMID:24647030|PMID:25644381|PMID:25741868|PMID:28492532 8859132 Las1l LAS1 like ribosome biogenesis factor gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1354295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 8859132 Las1l LAS1 like ribosome biogenesis factor gene DOID:1059 intellectual disability ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8859132 Las1l LAS1 like ribosome biogenesis factor gene DOID:12849 autistic disorder ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8859132 Las1l LAS1 like ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1354295 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8859132 Las1l LAS1 like ribosome biogenesis factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8859132 Las1l LAS1 like ribosome biogenesis factor gene DOID:9008086 Developmental Disabilities ISO RGD:1354295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25644381|PMID:28492532 8859166 Crnn cornulin gene DOID:0111940 immunodeficiency 42 ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8859166 Crnn cornulin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8859166 Crnn cornulin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8859166 Crnn cornulin gene DOID:1540 parathyroid carcinoma ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8859166 Crnn cornulin gene DOID:5812 MHC class II deficiency ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8859166 Crnn cornulin gene DOID:630 genetic disease ISO RGD:1323410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859166 Crnn cornulin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8859173 Atp13a5 ATPase 13A5 gene DOID:5419 schizophrenia ISO RGD:1343803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8859173 Atp13a5 ATPase 13A5 gene DOID:630 genetic disease ISO RGD:1343803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859207 Ptpn2 protein tyrosine phosphatase non-receptor type 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:733575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8859207 Ptpn2 protein tyrosine phosphatase non-receptor type 2 gene DOID:1059 intellectual disability ISO RGD:733575 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8859207 Ptpn2 protein tyrosine phosphatase non-receptor type 2 gene DOID:10591 pre-eclampsia disease_progression ISO RGD:733575 D RGD:9068941 20220930 RGD mRNA:decreased expression:placenta (human) PMID:27746364|REF_RGD_ID:155260325 8859207 Ptpn2 protein tyrosine phosphatase non-receptor type 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:733575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20473312 8859207 Ptpn2 protein tyrosine phosphatase non-receptor type 2 gene DOID:630 genetic disease ISO RGD:733575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859207 Ptpn2 protein tyrosine phosphatase non-receptor type 2 gene DOID:7148 rheumatoid arthritis ISO RGD:733575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 8859207 Ptpn2 protein tyrosine phosphatase non-receptor type 2 gene DOID:8577 ulcerative colitis ISO RGD:733575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 8859207 Ptpn2 protein tyrosine phosphatase non-receptor type 2 gene DOID:8778 Crohn's disease ISO RGD:733575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17554261 8859232 Exoc8 exocyst complex component 8 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343470 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:22700954 8859232 Exoc8 exocyst complex component 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1343470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8859232 Exoc8 exocyst complex component 8 gene DOID:630 genetic disease ISO RGD:1343470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859232 Exoc8 exocyst complex component 8 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1343470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8859232 Exoc8 exocyst complex component 8 gene DOID:9007897 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY ISO RGD:1343470 D RGD:7240710 20210120 OMIM 8859232 Exoc8 exocyst complex component 8 gene DOID:9007897 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY ISO RGD:1343470 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy PMID:25741868|PMID:28492532|PMID:32103185 8859232 Exoc8 exocyst complex component 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1350719 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:10283 prostate cancer severity ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland, serum PMID:17306443|REF_RGD_ID:2300382 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:urinary bladder PMID:16327984|REF_RGD_ID:2300384 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:1793 pancreatic cancer ISO RGD:1350719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19896093 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD PMID:15269150|REF_RGD_ID:2300386 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15963628|REF_RGD_ID:2300385 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:289 endometriosis disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8988701|REF_RGD_ID:2300390 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:3702 cervical adenocarcinoma ISO RGD:1350719 D RGD:9068941 20200609 RGD PMID:2258083|REF_RGD_ID:2300391 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:4450 renal cell carcinoma ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:10508484|REF_RGD_ID:2300388 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1350719 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11176522|REF_RGD_ID:2300387 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:4989 pancreatitis ISO RGD:1350719 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pancreatitis PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9001027 Tropical Calcific Pancreatitis ISO RGD:1350719 D RGD:7240710 20240313 OMIM 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9001027 Tropical Calcific Pancreatitis ISO RGD:1350719 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Tropical calcific pancreatitis PMID:10691414|PMID:10835640|PMID:11265669|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:15980664|PMID:16849362|PMID:16885867|PMID:17003641|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:18978175|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:21610753|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23017645|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:24909264|PMID:25010710|PMID:25206283|PMID:25741868|PMID:25792561|PMID:25927356|PMID:26632706|PMID:26719302|PMID:27535533|PMID:27578509|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28687971|PMID:28984793|PMID:29521951|PMID:31401021|PMID:34828289 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25735316 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9005372 Inflammation ISO RGD:3749 D RGD:9068941 20200609 RGD protein:increased expression,increased secretion:liver,serum PMID:7526044|REF_RGD_ID:10043093 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:3749 D RGD:9068941 20200609 RGD protein:increased secretion:pancreatic juice: PMID:12123090|REF_RGD_ID:10044261 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9005729 Chronic Experimental Pancreatitis treatment ISO RGD:3749 D RGD:9068941 20200609 RGD PMID:19904222|PMID:22173919|REF_RGD_ID:10043091|REF_RGD_ID:10044253 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9006190 Chronic Pancreatitis ISO RGD:1350719 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:15980664|PMID:16849362|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:18978175|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23017645|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:24909264|PMID:25010710|PMID:25206283|PMID:25741868|PMID:25927356|PMID:26632706|PMID:26719302|PMID:27535533|PMID:27578509|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:29521951|PMID:31401021|PMID:34828289 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:3749 D RGD:9068941 20200609 RGD PMID:15765407|REF_RGD_ID:10043090 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1350719 D RGD:9068941 20200609 RGD PMID:9891532|REF_RGD_ID:2300389 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1350719 D RGD:7240710 20240313 OMIM 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1350719 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10691414|PMID:10835640|PMID:10982753|PMID:11265669|PMID:11355022|PMID:11368029|PMID:11578065|PMID:11950815|PMID:120111|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12651880|PMID:12658397|PMID:12743777|PMID:12825076|PMID:12853682|PMID:12939655|PMID:14526128|PMID:14722925|PMID:15800694|PMID:15980664|PMID:1613792|PMID:16823394|PMID:16849362|PMID:16885867|PMID:17003641|PMID:17048046|PMID:17204147|PMID:17274009|PMID:17466744|PMID:17525091|PMID:17568390|PMID:17576681|PMID:17681820|PMID:18172691|PMID:18182741|PMID:18206809|PMID:18206817|PMID:18286680|PMID:18414673|PMID:18570327|PMID:18580441|PMID:18617776|PMID:1870127|PMID:18978175|PMID:19299380|PMID:19372376|PMID:19453252|PMID:19565042|PMID:19888199|PMID:20510827|PMID:21303407|PMID:21375584|PMID:21610753|PMID:21952138|PMID:22094894|PMID:22228370|PMID:22343980|PMID:22343981|PMID:22427236|PMID:22526274|PMID:22572128|PMID:22577471|PMID:22749696|PMID:22995991|PMID:23017645|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24052272|PMID:24522117|PMID:24795752|PMID:24844923|PMID:24909264|PMID:25010710|PMID:25206283|PMID:25383785|PMID:25741868|PMID:25792561|PMID:25927356|PMID:26228362|PMID:26348468|PMID:26632706|PMID:26719302|PMID:27171515|PMID:27535533|PMID:27578509|PMID:28320769|PMID:28440306|PMID:28472998|PMID:28492532|PMID:28502372|PMID:28536777|PMID:28546060|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28687971|PMID:28984793|PMID:28994706|PMID:29521951|PMID:30420730|PMID:31391146|PMID:31401021|PMID:31628023|PMID:32948427|PMID:33097431|PMID:33515547|PMID:33534223|PMID:34828289|PMID:3501289|PMID:35974416|PMID:9536098 8859249 Spink1 serine peptidase inhibitor Kazal type 1 gene DOID:9351 diabetes mellitus ISO RGD:1350719 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Diabetes mellitus PMID:10835640|PMID:15980664|PMID:16849362|PMID:18978175|PMID:23017645|PMID:23741238|PMID:24909264|PMID:25741868|PMID:25927356|PMID:26632706|PMID:26719302|PMID:27578509|PMID:28492532|PMID:29521951|PMID:31401021 8859263 Lgals9 galectin 9 gene DOID:0060041 autism spectrum disorder ISO RGD:736794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 8859263 Lgals9 galectin 9 gene DOID:10952 nephritis ISO RGD:736794 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11044214 8859263 Lgals9 galectin 9 gene DOID:630 genetic disease ISO RGD:736794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859263 Lgals9 galectin 9 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:3005 D RGD:9068941 20200609 RGD PMID:17706429|REF_RGD_ID:9685206 8859285 Stk3 serine/threonine kinase 3 gene DOID:0111590 Cohen syndrome ISO RGD:732933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8859285 Stk3 serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:732933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859311 Nwd2 NACHT and WD repeat domain containing 2 gene DOID:630 genetic disease ISO RGD:1603203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859347 Baz2a bromodomain adjacent to zinc finger domain 2A gene DOID:630 genetic disease ISO RGD:1312828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859347 Baz2a bromodomain adjacent to zinc finger domain 2A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25485837 8859414 Mxd1 MAX dimerization protein 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1353608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8859414 Mxd1 MAX dimerization protein 1 gene DOID:630 genetic disease ISO RGD:1353608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859430 Galnt17 polypeptide N-acetylgalactosaminyltransferase 17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8859430 Galnt17 polypeptide N-acetylgalactosaminyltransferase 17 gene DOID:630 genetic disease ISO RGD:1342451 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859430 Galnt17 polypeptide N-acetylgalactosaminyltransferase 17 gene DOID:9005747 Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability ISO RGD:1342451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability PMID:23332918 8859453 Gtf2f2 general transcription factor IIF subunit 2 gene DOID:630 genetic disease ISO RGD:733447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859465 Btaf1 B-TFIID TATA-box binding protein associated factor 1 gene DOID:630 genetic disease ISO RGD:1352187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859506 Mcmdc2 minichromosome maintenance domain containing 2 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1605856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 8859506 Mcmdc2 minichromosome maintenance domain containing 2 gene DOID:14227 azoospermia ISO RGD:1605856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8859506 Mcmdc2 minichromosome maintenance domain containing 2 gene DOID:630 genetic disease ISO RGD:1605856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859537 Ctse cathepsin E gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8859537 Ctse cathepsin E gene DOID:10283 prostate cancer ISO RGD:736046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8859537 Ctse cathepsin E gene DOID:12849 autistic disorder ISO RGD:736046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8859537 Ctse cathepsin E gene DOID:1540 parathyroid carcinoma ISO RGD:736046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8859537 Ctse cathepsin E gene DOID:3310 atopic dermatitis ISO RGD:10422 D RGD:9068941 20220825 MouseDO OMIM:603165 8859537 Ctse cathepsin E gene DOID:630 genetic disease ISO RGD:736046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859537 Ctse cathepsin E gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8859537 Ctse cathepsin E gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8859537 Ctse cathepsin E gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8859537 Ctse cathepsin E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8859552 Man2b1 mannosidase alpha class 2B member 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1348586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8859552 Man2b1 mannosidase alpha class 2B member 1 gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 8859552 Man2b1 mannosidase alpha class 2B member 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1348586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8859552 Man2b1 mannosidase alpha class 2B member 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8859552 Man2b1 mannosidase alpha class 2B member 1 gene DOID:1059 intellectual disability ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8859552 Man2b1 mannosidase alpha class 2B member 1 gene DOID:2661 myoepithelioma ISO RGD:1348586 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8859552 Man2b1 mannosidase alpha class 2B member 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1348586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8859552 Man2b1 mannosidase alpha class 2B member 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1348586 D RGD:7240710 20180130 OMIM 8859552 Man2b1 mannosidase alpha class 2B member 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1348586 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase | ClinVar Annotator: match by term: Mannosidosis, alpha B lysosomal PMID:10071201|PMID:11959458|PMID:12634058|PMID:12718372|PMID:1472354|PMID:14765545|PMID:15035660|PMID:15712269|PMID:16199547|PMID:16919251|PMID:17404523|PMID:17576681|PMID:17979865|PMID:18414213|PMID:19958498|PMID:20165920|PMID:20301570|PMID:21505070|PMID:22161967|PMID:22700954|PMID:23596069|PMID:23613340|PMID:24033266|PMID:24353136|PMID:24767253|PMID:25640679|PMID:25741868|PMID:25762455|PMID:26048034|PMID:26633542|PMID:26633546|PMID:26817023|PMID:27149842|PMID:27959697|PMID:28492532|PMID:28559085|PMID:28714951|PMID:29859105|PMID:30091983|PMID:30548430|PMID:31241255|PMID:31785789|PMID:32331969|PMID:32860008|PMID:34011629|PMID:34234304|PMID:34614013|PMID:4358183|PMID:724292|PMID:9158146|PMID:9370301|PMID:9536098|PMID:9758606|PMID:9915946 8859552 Man2b1 mannosidase alpha class 2B member 1 gene DOID:630 genetic disease ISO RGD:1348586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15035660|PMID:16199547|PMID:17576681|PMID:19958498|PMID:20301570|PMID:21505070|PMID:22161967|PMID:23613340|PMID:24033266|PMID:25741868|PMID:25762455|PMID:26048034|PMID:28492532|PMID:29859105|PMID:30548430|PMID:31241255|PMID:9536098|PMID:9758606|PMID:9915946 8859552 Man2b1 mannosidase alpha class 2B member 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1348586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 8859598 Nptx1 neuronal pentraxin 1 gene DOID:630 genetic disease ISO RGD:1321571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859598 Nptx1 neuronal pentraxin 1 gene DOID:9002396 Spinocerebellar Ataxia 50 ISO RGD:1321571 D RGD:7240710 20230104 OMIM 8859598 Nptx1 neuronal pentraxin 1 gene DOID:9002396 Spinocerebellar Ataxia 50 ISO RGD:1321571 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 50 PMID:25741868|PMID:34788392|PMID:35285082|PMID:35560436 8859607 Kash5 KASH domain containing 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8859607 Kash5 KASH domain containing 5 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1602065 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:35708642 8859607 Kash5 KASH domain containing 5 gene DOID:14227 azoospermia ISO RGD:1602065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8859607 Kash5 KASH domain containing 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1602065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 8859607 Kash5 KASH domain containing 5 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1602065 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868|PMID:35708642 8859607 Kash5 KASH domain containing 5 gene DOID:630 genetic disease ISO RGD:1602065 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859607 Kash5 KASH domain containing 5 gene DOID:9003682 Spermatogenic Failure 88 ISO RGD:1602065 D RGD:7240710 20231101 OMIM 8859607 Kash5 KASH domain containing 5 gene DOID:9003682 Spermatogenic Failure 88 ISO RGD:1602065 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 88 PMID:29790874|PMID:35587281|PMID:35674372|PMID:36864840 8859607 Kash5 KASH domain containing 5 gene DOID:9008187 Primary Ovarian Insufficiency 22 ISO RGD:1602065 D RGD:7240710 20231025 OMIM 8859607 Kash5 KASH domain containing 5 gene DOID:9008187 Primary Ovarian Insufficiency 22 ISO RGD:1602065 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 22 PMID:25741868|PMID:35587281|PMID:35708642|PMID:36864840 8859632 Znf800 zinc finger protein 800 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8859632 Znf800 zinc finger protein 800 gene DOID:630 genetic disease ISO RGD:1603887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859650 Mtmr11 myotubularin related protein 11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8859650 Mtmr11 myotubularin related protein 11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8859650 Mtmr11 myotubularin related protein 11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8859650 Mtmr11 myotubularin related protein 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8859650 Mtmr11 myotubularin related protein 11 gene DOID:5812 MHC class II deficiency ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8859650 Mtmr11 myotubularin related protein 11 gene DOID:630 genetic disease ISO RGD:1605703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859650 Mtmr11 myotubularin related protein 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8859677 Vstm1 V-set and transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1604181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859690 Tmem106c transmembrane protein 106C gene DOID:630 genetic disease ISO RGD:1601972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859713 Cmklr1 chemerin chemokine-like receptor 1 gene DOID:10591 pre-eclampsia ISO RGD:1348723 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34398343 8859713 Cmklr1 chemerin chemokine-like receptor 1 gene DOID:2999 granulosa cell tumor ISO RGD:1348723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29653259 8859713 Cmklr1 chemerin chemokine-like receptor 1 gene DOID:630 genetic disease ISO RGD:1348723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859718 Dnaaf10 dynein axonemal assembly factor 10 gene DOID:630 genetic disease ISO RGD:1605887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859730 LOC102023843 HLA class II histocompatibility antigen, DM alpha chain gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8859730 LOC102023843 HLA class II histocompatibility antigen, DM alpha chain gene DOID:13241 Behcet's disease no_association ISO RGD:1346716 D RGD:9068941 20200609 RGD PMID:10375868|REF_RGD_ID:1582700 8859730 LOC102023843 HLA class II histocompatibility antigen, DM alpha chain gene DOID:2773 contact dermatitis ISO RGD:1346716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348411 8859730 LOC102023843 HLA class II histocompatibility antigen, DM alpha chain gene DOID:4404 occupational dermatitis ISO RGD:1346716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16737583 8859730 LOC102023843 HLA class II histocompatibility antigen, DM alpha chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735053 D RGD:9068941 20230610 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8859730 LOC102023843 HLA class II histocompatibility antigen, DM alpha chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346716 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8859754 Tfg trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:9536098 8859754 Tfg trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:9536098 8859754 Tfg trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:9536098 8859754 Tfg trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:33726816|PMID:9536098 8859754 Tfg trafficking from ER to golgi regulator gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1320255 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:33726816|PMID:35642252|PMID:9536098 8859754 Tfg trafficking from ER to golgi regulator gene DOID:0110809 hereditary spastic paraplegia 57 ISO RGD:1320255 D RGD:7240710 20180130 OMIM 8859754 Tfg trafficking from ER to golgi regulator gene DOID:0110809 hereditary spastic paraplegia 57 ISO RGD:1320255 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:33726816 8859754 Tfg trafficking from ER to golgi regulator gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1320255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:28492532 8859754 Tfg trafficking from ER to golgi regulator gene DOID:630 genetic disease ISO RGD:1320255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23479643|PMID:25741868|PMID:27492651|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:33726816|PMID:35642252|PMID:9536098 8859754 Tfg trafficking from ER to golgi regulator gene DOID:9001905 Hereditary Motor and Sensory Neuropathy, Okinawa Type ISO RGD:1320255 D RGD:7240710 20180130 OMIM 8859754 Tfg trafficking from ER to golgi regulator gene DOID:9001905 Hereditary Motor and Sensory Neuropathy, Okinawa Type ISO RGD:1320255 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:22883144|PMID:23479643|PMID:23553329|PMID:23806086|PMID:24088041|PMID:24613659|PMID:25098539|PMID:25725944|PMID:25741868|PMID:26257172|PMID:27492651|PMID:27601211|PMID:28124177|PMID:28166811|PMID:28196470|PMID:28492532|PMID:29971521|PMID:30157421|PMID:30221345|PMID:30467354|PMID:33726816|PMID:35642252|PMID:9536098 8859774 Foxf2 forkhead box F2 gene DOID:630 genetic disease ISO RGD:1352114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859774 Foxf2 forkhead box F2 gene DOID:9007096 Stroke ISO RGD:1352114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8859786 Egr1 early growth response 1 gene DOID:0050328 congenital hypothyroidism ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23079472|REF_RGD_ID:10395304 8859786 Egr1 early growth response 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:10512 D RGD:9068941 20220825 MouseDO OMIM:614286 8859786 Egr1 early growth response 1 gene DOID:0070004 myeloid neoplasm ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:17420284|REF_RGD_ID:5131859 8859786 Egr1 early growth response 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:737111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8859786 Egr1 early growth response 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8859786 Egr1 early growth response 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:10512 D RGD:9068941 20200626 RGD PMID:17420284|REF_RGD_ID:5131859 8859786 Egr1 early growth response 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:737111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8859786 Egr1 early growth response 1 gene DOID:10325 silicosis ISO RGD:2544 D RGD:9068941 20200609 RGD protein:increased expression:lung, epithelial cell, macrophage (rat) PMID:15033019|REF_RGD_ID:5131937 8859786 Egr1 early growth response 1 gene DOID:10652 Alzheimer's disease ISO RGD:737111 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, hippocampus (human) PMID:21489990|REF_RGD_ID:5131647 8859786 Egr1 early growth response 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:21969301|PMID:23642031|REF_RGD_ID:10395277|REF_RGD_ID:10395279 8859786 Egr1 early growth response 1 gene DOID:11111 hydronephrosis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25015655 8859786 Egr1 early growth response 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:10512 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:16713977|REF_RGD_ID:5131902 8859786 Egr1 early growth response 1 gene DOID:11832 visual epilepsy ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23744421|REF_RGD_ID:10395306 8859786 Egr1 early growth response 1 gene DOID:12858 Huntington's disease ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:12191502|REF_RGD_ID:10395281 8859786 Egr1 early growth response 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:737111 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:16933469|REF_RGD_ID:5131899 8859786 Egr1 early growth response 1 gene DOID:13580 cholestasis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 8859786 Egr1 early growth response 1 gene DOID:1612 breast cancer ISO RGD:2544 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (rat) PMID:9212230|REF_RGD_ID:5131943 8859786 Egr1 early growth response 1 gene DOID:1612 breast cancer ISO RGD:737111 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:9212230|REF_RGD_ID:5131943 8859786 Egr1 early growth response 1 gene DOID:1712 aortic valve stenosis ISO RGD:737111 D RGD:9068941 20200609 RGD protein:increased expression:aortic valve cusp PMID:15597579|REF_RGD_ID:1626496 8859786 Egr1 early growth response 1 gene DOID:1724 duodenal ulcer ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:24385009|REF_RGD_ID:8694318 8859786 Egr1 early growth response 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737111 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8859786 Egr1 early growth response 1 gene DOID:1826 epilepsy ISO RGD:10512 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (mouse) PMID:21559295|REF_RGD_ID:5131860 8859786 Egr1 early growth response 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18364083|PMID:22094456 8859786 Egr1 early growth response 1 gene DOID:2316 brain ischemia ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 8859786 Egr1 early growth response 1 gene DOID:2349 arteriosclerosis ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:14670837|REF_RGD_ID:5131652 8859786 Egr1 early growth response 1 gene DOID:2349 arteriosclerosis ISO RGD:10512 D RGD:9068941 20200609 RGD protein:increased expression:atherosclerotic lesions, vascular associated smooth muscle cell, nucleus (mouse) PMID:21099169|REF_RGD_ID:5131874 8859786 Egr1 early growth response 1 gene DOID:2349 arteriosclerosis ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid artery, plaque (human) PMID:10712437|REF_RGD_ID:5131645 8859786 Egr1 early growth response 1 gene DOID:2841 asthma ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:11254538|REF_RGD_ID:5131985 8859786 Egr1 early growth response 1 gene DOID:2841 asthma ISO RGD:737111 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-4071A>G rs7729723 (human) PMID:18507785|REF_RGD_ID:5131993 8859786 Egr1 early growth response 1 gene DOID:2841 asthma ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchoalveolar lavage cell (human) PMID:18774390|REF_RGD_ID:5130915 8859786 Egr1 early growth response 1 gene DOID:289 endometriosis ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:23427178|REF_RGD_ID:10395305 8859786 Egr1 early growth response 1 gene DOID:305 carcinoma disease_progression ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:19200397|REF_RGD_ID:5131888 8859786 Egr1 early growth response 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10512 D RGD:9068941 20200609 RGD associated with Tobacco Use Disorder PMID:20417178|REF_RGD_ID:5131878 8859786 Egr1 early growth response 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737111 D RGD:9068941 20200609 RGD associated with Tobacco Use Disorder;mRNA:increased expression:lung (human) PMID:15469929|REF_RGD_ID:5131854 8859786 Egr1 early growth response 1 gene DOID:326 ischemia ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 8859786 Egr1 early growth response 1 gene DOID:3347 osteosarcoma ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor (human) PMID:21283769|REF_RGD_ID:5131662 8859786 Egr1 early growth response 1 gene DOID:3355 fibrosarcoma ISO RGD:10512 D RGD:9068941 20200609 RGD human tumor line expressing mouse gene in mouse model PMID:7585551|REF_RGD_ID:5131944 8859786 Egr1 early growth response 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:22645329|REF_RGD_ID:10395314 8859786 Egr1 early growth response 1 gene DOID:3770 pulmonary fibrosis ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:19679873|REF_RGD_ID:5131644 8859786 Egr1 early growth response 1 gene DOID:3770 pulmonary fibrosis ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:20539010|REF_RGD_ID:5131877 8859786 Egr1 early growth response 1 gene DOID:3770 pulmonary fibrosis disease_progression ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19347046|REF_RGD_ID:4144870 8859786 Egr1 early growth response 1 gene DOID:3908 lung non-small cell carcinoma resistance ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:15774784|REF_RGD_ID:5131925 8859786 Egr1 early growth response 1 gene DOID:417 autoimmune disease ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 8859786 Egr1 early growth response 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor (human) PMID:11948124|REF_RGD_ID:5131942 8859786 Egr1 early growth response 1 gene DOID:4989 pancreatitis ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (rat) PMID:16124058|REF_RGD_ID:5131939 8859786 Egr1 early growth response 1 gene DOID:5082 liver cirrhosis ISO RGD:2544 D RGD:9068941 20200609 RGD protein:increased expression:liver, nucleus PMID:22292946|REF_RGD_ID:10395298 8859786 Egr1 early growth response 1 gene DOID:552 pneumonia ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29787794 8859786 Egr1 early growth response 1 gene DOID:6132 bronchitis ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:17384085|REF_RGD_ID:5132266 8859786 Egr1 early growth response 1 gene DOID:630 genetic disease ISO RGD:737111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859786 Egr1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:20889906|REF_RGD_ID:5131875 8859786 Egr1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:18599502|REF_RGD_ID:5131890 8859786 Egr1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:21924231|REF_RGD_ID:10395308 8859786 Egr1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:20023177|REF_RGD_ID:5131883 8859786 Egr1 early growth response 1 gene DOID:6432 pulmonary hypertension ISO RGD:737111 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:20889906|REF_RGD_ID:5131875 8859786 Egr1 early growth response 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8859786 Egr1 early growth response 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8859786 Egr1 early growth response 1 gene DOID:8398 osteoarthritis ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA, protein: decreased expression PMID:10806043|REF_RGD_ID:1626498 8859786 Egr1 early growth response 1 gene DOID:850 lung disease ISO RGD:10512 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury PMID:20110555|REF_RGD_ID:5131881 8859786 Egr1 early growth response 1 gene DOID:850 lung disease ISO RGD:10512 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury; protein:increased expression:lung (mouse) PMID:18356564|REF_RGD_ID:5131893 8859786 Egr1 early growth response 1 gene DOID:850 lung disease ISO RGD:2544 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury; mRNA:increased expression:lung (rat) PMID:12816737|REF_RGD_ID:5131898 8859786 Egr1 early growth response 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:2544 D RGD:9068941 20240210 RGD protein:decreased expression:hippocampus (rat) PMID:26180184|REF_RGD_ID:11074449 8859786 Egr1 early growth response 1 gene DOID:9001472 Nasal Polyps ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal polyp (human) PMID:19158123|REF_RGD_ID:4890001 8859786 Egr1 early growth response 1 gene DOID:9001488 Human Influenza ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex (mouse) PMID:21289196|REF_RGD_ID:5131660 8859786 Egr1 early growth response 1 gene DOID:9001553 Spinal Cord Compression ISO RGD:2544 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:20675054|REF_RGD_ID:5131876 8859786 Egr1 early growth response 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16552752 8859786 Egr1 early growth response 1 gene DOID:9002669 Hypoxia ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 8859786 Egr1 early growth response 1 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:19188657|REF_RGD_ID:5131872 8859786 Egr1 early growth response 1 gene DOID:9003163 Heart Block ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (mouse) PMID:15809371|REF_RGD_ID:5131924 8859786 Egr1 early growth response 1 gene DOID:9003230 Graft Occlusion, Vascular treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23586030|REF_RGD_ID:10395312 8859786 Egr1 early growth response 1 gene DOID:9003566 Mesothelioma ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878867 8859786 Egr1 early growth response 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:737111 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-4071A>G rs7729723 (human) PMID:19833116|REF_RGD_ID:5131984 8859786 Egr1 early growth response 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA:increased expression:forebrain (rat) PMID:7684483|REF_RGD_ID:2289081 8859786 Egr1 early growth response 1 gene DOID:9003936 Cardiomegaly ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:16025126|REF_RGD_ID:5131654 8859786 Egr1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10512 D RGD:9068941 20200609 RGD Lung Reperfusion Injury PMID:16551742|REF_RGD_ID:5131903 8859786 Egr1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:10512 D RGD:9068941 20200609 RGD Lung Reperfusion Injury; protein:increased expression:lung, nucleus (mouse) PMID:19342415|REF_RGD_ID:5131887 8859786 Egr1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2544 D RGD:9068941 20200609 RGD Lung Reperfusion Injury; protein:increased expression:lung, nucleus (rat) PMID:16488723|REF_RGD_ID:5131904 8859786 Egr1 early growth response 1 gene DOID:9004009 Reperfusion Injury ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12468449 8859786 Egr1 early growth response 1 gene DOID:9004118 Experimental Melanoma ISO RGD:10512 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:salivary gland (mouse) PMID:19517020|REF_RGD_ID:5131885 8859786 Egr1 early growth response 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8859786 Egr1 early growth response 1 gene DOID:9005111 morphine withdrawal syndrome treatment ISO RGD:2544 D RGD:9068941 20240201 RGD PMID:30550948|REF_RGD_ID:401959617 8859786 Egr1 early growth response 1 gene DOID:9005172 Lung Neoplasms ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8859786 Egr1 early growth response 1 gene DOID:9005372 Inflammation ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22094456 8859786 Egr1 early growth response 1 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23774133|REF_RGD_ID:10395302 8859786 Egr1 early growth response 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16157275|PMID:16738229|PMID:18311559 8859786 Egr1 early growth response 1 gene DOID:9005632 Cocaine-Related Disorders treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:21309948|PMID:25309368|REF_RGD_ID:10395309|REF_RGD_ID:10400880 8859786 Egr1 early growth response 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23232597|REF_RGD_ID:10395299 8859786 Egr1 early growth response 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:22878149|REF_RGD_ID:10395282 8859786 Egr1 early growth response 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8859786 Egr1 early growth response 1 gene DOID:9007877 Fetal Hypoxia ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23427086|REF_RGD_ID:10395301 8859786 Egr1 early growth response 1 gene DOID:9008023 Memory Disorders treatment ISO RGD:2544 D RGD:9068941 20200609 RGD associated with Congenital Hypothyroidism PMID:22192600|REF_RGD_ID:10395310 8859786 Egr1 early growth response 1 gene DOID:9008113 Tissue Adhesions ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:peritoneum, adhesion (rat) PMID:14961185|REF_RGD_ID:5131938 8859786 Egr1 early growth response 1 gene DOID:9008331 Tendon Injuries treatment ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 8859786 Egr1 early growth response 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2544 D RGD:9068941 20200609 RGD PMID:22153973|REF_RGD_ID:10395307 8859786 Egr1 early growth response 1 gene DOID:9008884 Decompression Sickness ISO RGD:2544 D RGD:9068941 20200609 RGD mRNA:increased expression:lungs (rat) PMID:17310878|REF_RGD_ID:5131894 8859786 Egr1 early growth response 1 gene DOID:9446 cholangitis ISO RGD:737111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 8859786 Egr1 early growth response 1 gene DOID:9675 pulmonary emphysema ISO RGD:10512 D RGD:9068941 20200609 RGD associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse) PMID:16601242|REF_RGD_ID:5131892 8859786 Egr1 early growth response 1 gene DOID:9675 pulmonary emphysema ISO RGD:737111 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:11021835|REF_RGD_ID:5131973 8859786 Egr1 early growth response 1 gene DOID:9675 pulmonary emphysema resistance ISO RGD:10512 D RGD:9068941 20200609 RGD PMID:18830406|REF_RGD_ID:5131853 8859792 Znf572 zinc finger protein 572 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1353007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8859792 Znf572 zinc finger protein 572 gene DOID:630 genetic disease ISO RGD:1353007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859818 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318821 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 8859818 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1318821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 8859818 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8859818 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:1826 epilepsy ISO RGD:1318821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8859818 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8859818 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:2871 endometrial carcinoma ISO RGD:1318821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8859818 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:630 genetic disease ISO RGD:1318821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859818 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1318821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8859818 Dnase1l2 deoxyribonuclease 1 like 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8859831 Ddc dopa decarboxylase gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734177 D RGD:9068941 20240229 RGD DNA:SNPs,haplotypes:: PMID:17184203|REF_RGD_ID:401976473 8859831 Ddc dopa decarboxylase gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734177 D RGD:9068941 20240229 RGD DNA:SNPs,haplotypes:introns:multiple (human) PMID:16740595|REF_RGD_ID:401976474 8859831 Ddc dopa decarboxylase gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734177 D RGD:9068941 20240229 RGD DNA:SNPs,haplotypes:multiple PMID:15879433|REF_RGD_ID:401976477 8859831 Ddc dopa decarboxylase gene DOID:0050771 pheochromocytoma ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 8859831 Ddc dopa decarboxylase gene DOID:0080855 Parkinsonism ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16269145 8859831 Ddc dopa decarboxylase gene DOID:0090123 aromatic L-amino acid decarboxylase deficiency ISO RGD:734177 D RGD:7240710 20180130 OMIM 8859831 Ddc dopa decarboxylase gene DOID:0090123 aromatic L-amino acid decarboxylase deficiency ISO RGD:734177 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase PMID:1357595|PMID:14991824|PMID:15079002|PMID:16199547|PMID:16783378|PMID:17240182|PMID:17533144|PMID:17576681|PMID:18567514|PMID:20301718|PMID:20505134|PMID:21541720|PMID:22143761|PMID:23321058|PMID:23430870|PMID:24037885|PMID:24788355|PMID:24865461|PMID:25001633|PMID:25597765|PMID:25741868|PMID:25956449|PMID:26994895|PMID:27147232|PMID:27243974|PMID:28492532|PMID:28556607|PMID:28856607|PMID:28924877|PMID:28973165|PMID:29356298|PMID:29851841|PMID:30144970|PMID:30260058|PMID:30952622|PMID:31104889|PMID:31130284|PMID:31607746|PMID:31703131|PMID:31849064|PMID:31918669|PMID:31953134|PMID:31975548|PMID:32111562|PMID:32369189|PMID:32409695|PMID:33734312|PMID:33808712|PMID:33996177|PMID:34763085|PMID:35531120|PMID:36427457|PMID:9536098|PMID:9789536 8859831 Ddc dopa decarboxylase gene DOID:10762 portal hypertension ISO RGD:2494 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:18457899|REF_RGD_ID:5129683 8859831 Ddc dopa decarboxylase gene DOID:1184 nephrotic syndrome ISO RGD:2494 D RGD:9068941 20200609 RGD protein:decreased activity:renal cortex (rat) PMID:16204272|REF_RGD_ID:5129145 8859831 Ddc dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:2494 D RGD:9068941 20200609 RGD PMID:12703659|REF_RGD_ID:4139893 8859831 Ddc dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:2494 D RGD:9068941 20200609 RGD protein:altered expression:arcuate nucleus ((rat) PMID:15935614|REF_RGD_ID:5129231 8859831 Ddc dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11445284|PMID:2969953 8859831 Ddc dopa decarboxylase gene DOID:14330 Parkinson's disease ISO RGD:734177 D RGD:9068941 20200609 RGD human gene in a rat model PMID:9853519|REF_RGD_ID:5129121 8859831 Ddc dopa decarboxylase gene DOID:150 disease of mental health ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2969953 8859831 Ddc dopa decarboxylase gene DOID:2018 hyperinsulinism ISO RGD:734177 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic beta cell (human) PMID:16403819|REF_RGD_ID:5129140 8859831 Ddc dopa decarboxylase gene DOID:3312 bipolar disorder ISO RGD:734177 D RGD:9068941 20200609 RGD DNA:deletions:5' utr, intron:g.-601delG, g.722_725delGAGA (human) PMID:12555230|REF_RGD_ID:1358586 8859831 Ddc dopa decarboxylase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8859831 Ddc dopa decarboxylase gene DOID:630 genetic disease ISO RGD:734177 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15079002|PMID:17576681|PMID:24788355|PMID:28492532|PMID:32111562|PMID:9536098 8859831 Ddc dopa decarboxylase gene DOID:655 inherited metabolic disorder ISO RGD:734177 D RGD:9068941 20200609 RGD AADC deficiency, OMIM:608643; DNA:point mutations:cds:multiple (human) PMID:20505134|REF_RGD_ID:5128849 8859831 Ddc dopa decarboxylase gene DOID:783 end stage renal disease ISO RGD:2494 D RGD:9068941 20200609 RGD protein:altered activity:renal cortex (rat) PMID:19167406|REF_RGD_ID:5128880 8859831 Ddc dopa decarboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2494 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:18457899|REF_RGD_ID:5129683 8859831 Ddc dopa decarboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8859831 Ddc dopa decarboxylase gene DOID:9002955 Nerve Degeneration ISO RGD:734177 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 8859831 Ddc dopa decarboxylase gene DOID:9008086 Developmental Disabilities ISO RGD:734177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 8859831 Ddc dopa decarboxylase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2494 D RGD:9068941 20200609 RGD associated with Parkinson Disease; protein:decreased expression:striatum (rat) PMID:20232137|REF_RGD_ID:5128860 8859862 Sdf2 stromal cell derived factor 2 gene DOID:630 genetic disease ISO RGD:1316372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859869 Trim56 tripartite motif containing 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8859869 Trim56 tripartite motif containing 56 gene DOID:630 genetic disease ISO RGD:1342742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859869 Trim56 tripartite motif containing 56 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1342742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 8859876 Gpr87 G protein-coupled receptor 87 gene DOID:0050579 glycogen storage disease XV ISO RGD:1317287 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8859876 Gpr87 G protein-coupled receptor 87 gene DOID:630 genetic disease ISO RGD:1317287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859885 Rnf225 ring finger protein 225 gene DOID:630 genetic disease ISO RGD:9587522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859902 Ventx VENT homeobox gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1354153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8859902 Ventx VENT homeobox gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 8859902 Ventx VENT homeobox gene DOID:630 genetic disease ISO RGD:1354153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859914 Smim22 small integral membrane protein 22 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:7247217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8859914 Smim22 small integral membrane protein 22 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:7247217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8859914 Smim22 small integral membrane protein 22 gene DOID:1826 epilepsy ISO RGD:7247217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8859914 Smim22 small integral membrane protein 22 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:7247217 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8859914 Smim22 small integral membrane protein 22 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:7247217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8859926 Ccl28 C-C motif chemokine ligand 28 gene DOID:10763 hypertension ISO RGD:619937 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney (rat) PMID:19829664|REF_RGD_ID:4892132 8859926 Ccl28 C-C motif chemokine ligand 28 gene DOID:10763 hypertension no_association ISO RGD:619937 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:16840655|REF_RGD_ID:2298761 8859926 Ccl28 C-C motif chemokine ligand 28 gene DOID:1176 bronchial disease ISO RGD:1552437 D RGD:9068941 20200609 RGD Allergic Airway Disease PMID:15681819|REF_RGD_ID:4892197 8859926 Ccl28 C-C motif chemokine ligand 28 gene DOID:2841 asthma ISO RGD:1552437 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:16290206|REF_RGD_ID:4892195 8859926 Ccl28 C-C motif chemokine ligand 28 gene DOID:3310 atopic dermatitis severity ISO RGD:1349737 D RGD:9068941 20200609 RGD associated with Asthma; protein: increased secretion:serum (human) PMID:20161852|REF_RGD_ID:4892193 8859926 Ccl28 C-C motif chemokine ligand 28 gene DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ISO RGD:1552437 D RGD:9068941 20200609 RGD PMID:19050296|REF_RGD_ID:4890012 8859926 Ccl28 C-C motif chemokine ligand 28 gene DOID:614 lymphopenia ISO RGD:619937 D RGD:9068941 20200609 RGD protein:decreased expression:small intestine villus (rat) PMID:19393265|REF_RGD_ID:4892224 8859926 Ccl28 C-C motif chemokine ligand 28 gene DOID:630 genetic disease ISO RGD:1349737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859926 Ccl28 C-C motif chemokine ligand 28 gene DOID:9001488 Human Influenza resistance ISO RGD:1552437 D RGD:9068941 20200609 RGD PMID:19847203|REF_RGD_ID:4892196 8859926 Ccl28 C-C motif chemokine ligand 28 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8859926 Ccl28 C-C motif chemokine ligand 28 gene DOID:9008225 Respirovirus Infections ISO RGD:1552437 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:17954569|REF_RGD_ID:4892194 8859934 Znf396 zinc finger protein 396 gene DOID:1059 intellectual disability ISO RGD:1347461 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8859934 Znf396 zinc finger protein 396 gene DOID:630 genetic disease ISO RGD:1347461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859943 Lrtm1 leucine rich repeats and transmembrane domains 1 gene DOID:630 genetic disease ISO RGD:1606530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859950 Utp15 UTP15 small subunit processome component gene DOID:630 genetic disease ISO RGD:1604578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859950 Utp15 UTP15 small subunit processome component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8859967 Inava innate immunity activator gene DOID:0050589 inflammatory bowel disease ISO RGD:1601862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 8859967 Inava innate immunity activator gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1601862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8859967 Inava innate immunity activator gene DOID:0112155 inflammatory bowel disease 29 ISO RGD:1601862 D RGD:7240710 20200311 OMIM 8859967 Inava innate immunity activator gene DOID:0112155 inflammatory bowel disease 29 ISO RGD:1601862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 29 PMID:21983784|PMID:25741868|PMID:29420262 8859967 Inava innate immunity activator gene DOID:1540 parathyroid carcinoma ISO RGD:1601862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8859967 Inava innate immunity activator gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1601862 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8859967 Inava innate immunity activator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8859989 Slc27a6 solute carrier family 27 member 6 gene DOID:0060224 atrial fibrillation ISO RGD:1323714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8859989 Slc27a6 solute carrier family 27 member 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8859989 Slc27a6 solute carrier family 27 member 6 gene DOID:5844 myocardial infarction ISO RGD:1311977 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:17034771|REF_RGD_ID:1642800 8859989 Slc27a6 solute carrier family 27 member 6 gene DOID:630 genetic disease ISO RGD:1323714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8859989 Slc27a6 solute carrier family 27 member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8859989 Slc27a6 solute carrier family 27 member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8860018 Gab1 GRB2 associated binding protein 1 gene DOID:0110484 autosomal recessive nonsyndromic deafness 26 ISO RGD:1322354 D RGD:7240710 20190315 OMIM 8860018 Gab1 GRB2 associated binding protein 1 gene DOID:0110484 autosomal recessive nonsyndromic deafness 26 ISO RGD:1322354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 26 PMID:11101839|PMID:25741868|PMID:29408807 8860018 Gab1 GRB2 associated binding protein 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1322354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 8860018 Gab1 GRB2 associated binding protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1322354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8860018 Gab1 GRB2 associated binding protein 1 gene DOID:630 genetic disease ISO RGD:1322354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860018 Gab1 GRB2 associated binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322355 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation: : PMID:25617348|REF_RGD_ID:14995329 8860018 Gab1 GRB2 associated binding protein 1 gene DOID:9008114 Helicobacter Infections susceptibility ISO RGD:1322354 D RGD:9068941 20200925 RGD DNA:SNP:intron: PMID:17211494|REF_RGD_ID:39128202 8860040 Rbpjl recombination signal binding protein for immunoglobulin kappa J region like gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1312429 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 8860040 Rbpjl recombination signal binding protein for immunoglobulin kappa J region like gene DOID:2234 focal epilepsy ISO RGD:1312429 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8860040 Rbpjl recombination signal binding protein for immunoglobulin kappa J region like gene DOID:630 genetic disease ISO RGD:1312429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860040 Rbpjl recombination signal binding protein for immunoglobulin kappa J region like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1312429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8860040 Rbpjl recombination signal binding protein for immunoglobulin kappa J region like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 8860065 Mmrn1 multimerin 1 gene DOID:0060367 Parkinson's disease 1 ISO RGD:1352887 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 1 PMID:14593171|PMID:14755720|PMID:15451224|PMID:15451225|PMID:16358335|PMID:17251522|PMID:17625105|PMID:18195271|PMID:18852445|PMID:18852448|PMID:18852449 8860065 Mmrn1 multimerin 1 gene DOID:12217 Lewy body dementia ISO RGD:1352887 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:14593171|PMID:14755720|PMID:15451224|PMID:15451225|PMID:16358335|PMID:17251522|PMID:17625105|PMID:18195271|PMID:18852445|PMID:18852448|PMID:18852449 8860065 Mmrn1 multimerin 1 gene DOID:630 genetic disease ISO RGD:1352887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860081 Rchy1 ring finger and CHY zinc finger domain containing 1 gene DOID:11446 sciatic neuropathy ISO RGD:1359180 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve PMID:21959983|REF_RGD_ID:10045367 8860081 Rchy1 ring finger and CHY zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1353437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860081 Rchy1 ring finger and CHY zinc finger domain containing 1 gene DOID:9000918 Disease Progression ISO RGD:1353437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191284 8860081 Rchy1 ring finger and CHY zinc finger domain containing 1 gene DOID:9000998 Brain Injuries ISO RGD:1359180 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:21728064|REF_RGD_ID:10045359 8860081 Rchy1 ring finger and CHY zinc finger domain containing 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1353437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191284 8860106 Shd Src homology 2 domain containing transforming protein D gene DOID:13938 amenorrhea ISO RGD:1601984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8860106 Shd Src homology 2 domain containing transforming protein D gene DOID:630 genetic disease ISO RGD:1601984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860117 Slc35e3 solute carrier family 35 member E3 gene DOID:630 genetic disease ISO RGD:1352847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860125 Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:0111643 autosomal recessive nonsyndromic deafness 115 ISO RGD:1625643 D RGD:7240710 20190626 OMIM 8860125 Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:0111643 autosomal recessive nonsyndromic deafness 115 ISO RGD:1625643 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 115 PMID:25741868|PMID:28492532 8860125 Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:10003 sensorineural hearing loss ISO RGD:1625643 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8860125 Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:630 genetic disease ISO RGD:1625643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860125 Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate gene DOID:9004538 Hearing Loss ISO RGD:1625643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8860144 Cd180 CD180 molecule gene DOID:0080600 COVID-19 ISO RGD:1317791 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8860144 Cd180 CD180 molecule gene DOID:630 genetic disease ISO RGD:1317791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860144 Cd180 CD180 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:0080074 neural tube defect ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716750 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:0080773 delta beta-thalassemia ISO RGD:737409 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:11832 visual epilepsy ISO RGD:1592569 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (rat) PMID:15725396|REF_RGD_ID:5133692 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21496433 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:737409 D RGD:9068941 20210604 RGD PMID:19002265|REF_RGD_ID:127229933 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:3910 lung adenocarcinoma ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:3948 adrenocortical carcinoma ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22547773 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:630 genetic disease ISO RGD:737409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:684 hepatocellular carcinoma ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230555 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:9000918 Disease Progression ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21496433 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1592569 D RGD:9068941 20200609 RGD PMID:15224347|REF_RGD_ID:2316863 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:9002313 Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6 ISO RGD:737409 D RGD:7240710 20231220 OMIM 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:9002313 Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6 ISO RGD:737409 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 | ClinVar Annotator: match by term: RRM1-related disorder PMID:25741868 8860154 Rrm1 ribonucleotide reductase catalytic subunit M1 gene DOID:9006205 Animal Disease Models ISO RGD:737409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8860177 Tcaim T cell activation inhibitor, mitochondrial gene DOID:630 genetic disease ISO RGD:1605240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860192 Ovca2 OVCA2 serine hydrolase domain containing gene DOID:2394 ovarian cancer ISO RGD:1603916 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:8616839|REF_RGD_ID:2302168 8860192 Ovca2 OVCA2 serine hydrolase domain containing gene DOID:630 genetic disease ISO RGD:1603916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860199 Pgbd5 piggyBac transposable element derived 5 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1321950 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 8860199 Pgbd5 piggyBac transposable element derived 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1321950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8860199 Pgbd5 piggyBac transposable element derived 5 gene DOID:3672 rhabdoid cancer ISO RGD:1321950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28504702 8860199 Pgbd5 piggyBac transposable element derived 5 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1321950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8860199 Pgbd5 piggyBac transposable element derived 5 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1321950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28504702 8860199 Pgbd5 piggyBac transposable element derived 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8860224 Oaz1 ornithine decarboxylase antizyme 1 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:733111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8860224 Oaz1 ornithine decarboxylase antizyme 1 gene DOID:2316 brain ischemia ISO RGD:3219 D RGD:9068941 20231026 RGD mRNA:altered expression:cerebral cortex (rat) PMID:19531214|REF_RGD_ID:401851038 8860224 Oaz1 ornithine decarboxylase antizyme 1 gene DOID:4247 coronary restenosis susceptibility ISO RGD:733111 D RGD:9068941 20231026 RGD DNA:SNP:intron:c.2222A>G (rs2074458) (human) PMID:17761941|REF_RGD_ID:401851037 8860224 Oaz1 ornithine decarboxylase antizyme 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:733111 D RGD:9068941 20231026 RGD DNA:SNP:intron:c.2222A>G (rs2074458) (human) PMID:17761941|REF_RGD_ID:401851037 8860224 Oaz1 ornithine decarboxylase antizyme 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8860233 Ccn4 cellular communication network factor 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:69487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:12872253|PMID:23996628|PMID:28492532 8860233 Ccn4 cellular communication network factor 4 gene DOID:14264 benign neonatal seizures ISO RGD:69487 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 8860233 Ccn4 cellular communication network factor 4 gene DOID:630 genetic disease ISO RGD:69487 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860233 Ccn4 cellular communication network factor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30723155 8860233 Ccn4 cellular communication network factor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69431 D RGD:9068941 20200609 RGD PMID:24600972|REF_RGD_ID:10003105 8860233 Ccn4 cellular communication network factor 4 gene DOID:9004018 Paraquat Lung ISO RGD:69487 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:35387687 8860233 Ccn4 cellular communication network factor 4 gene DOID:9004656 Airway Remodeling treatment ISO RGD:69431 D RGD:9068941 20200609 RGD associated with Asthma PMID:23845395|REF_RGD_ID:10003106 8860233 Ccn4 cellular communication network factor 4 gene DOID:9007480 Hyperoxia treatment ISO RGD:69431 D RGD:9068941 20200609 RGD PMID:23481549|REF_RGD_ID:10003108 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0060476 Perlman syndrome ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:733359 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:25741868 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110664 congenital myasthenic syndrome 3C ISO RGD:733359 D RGD:7240710 20180130 OMIM 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110664 congenital myasthenic syndrome 3C ISO RGD:733359 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3C PMID:11435464|PMID:16199547|PMID:16916845|PMID:23108489|PMID:25264167|PMID:25741868|PMID:28492532|PMID:32070632 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110665 congenital myasthenic syndrome 3B ISO RGD:733359 D RGD:7240710 20180214 OMIM 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110665 congenital myasthenic syndrome 3B ISO RGD:733359 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3B PMID:11435464|PMID:12499478|PMID:16199547|PMID:16916845|PMID:18252226|PMID:18398509|PMID:25264167|PMID:25741868|PMID:28492532|PMID:29399782|PMID:34791078 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110666 congenital myasthenic syndrome 3A ISO RGD:733359 D RGD:7240710 20181024 OMIM 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110666 congenital myasthenic syndrome 3A ISO RGD:733359 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3A PMID:11782989|PMID:25264167|PMID:25741868|PMID:28492532|PMID:32528171 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0110991 Joubert syndrome 22 ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:733359 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31560172|PMID:32528171|PMID:8872460 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:630 genetic disease ISO RGD:733359 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34791078 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:9005246 Paralysis ISO RGD:733359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18694773 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:9005532 Muscle Weakness ISO RGD:733359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:733359 D RGD:7240710 20180130 OMIM 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:733359 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:11435464|PMID:11782989|PMID:16199547|PMID:16916845|PMID:17576681|PMID:18252226|PMID:18414213|PMID:23108489|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26578207|PMID:28024842|PMID:28492532|PMID:28518170|PMID:29382405|PMID:29390429|PMID:29399782|PMID:30467950|PMID:31560172|PMID:32070632|PMID:32360402|PMID:32403337|PMID:32528171|PMID:34791078|PMID:8872460|PMID:9536098 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:733359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8860249 Chrnd cholinergic receptor nicotinic delta subunit gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:733359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8860280 Fam131a family with sequence similarity 131 member A gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1606725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8860280 Fam131a family with sequence similarity 131 member A gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1606725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8860280 Fam131a family with sequence similarity 131 member A gene DOID:0111546 Currarino syndrome ISO RGD:1606725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8860280 Fam131a family with sequence similarity 131 member A gene DOID:630 genetic disease ISO RGD:1606725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860303 Gpr137b G protein-coupled receptor 137B gene DOID:1540 parathyroid carcinoma ISO RGD:1316484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8860303 Gpr137b G protein-coupled receptor 137B gene DOID:630 genetic disease ISO RGD:1316484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860303 Gpr137b G protein-coupled receptor 137B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8860313 Gnl3l G protein nucleolar 3 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8860313 Gnl3l G protein nucleolar 3 like gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1346519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8860313 Gnl3l G protein nucleolar 3 like gene DOID:12849 autistic disorder ISO RGD:1346519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8860313 Gnl3l G protein nucleolar 3 like gene DOID:630 genetic disease ISO RGD:1346519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860335 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1353015 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8860335 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1353015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8860335 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:630 genetic disease ISO RGD:1353015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860335 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:6420 pulmonary valve stenosis ISO RGD:1353015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8860335 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:8445 intestinal volvulus ISO RGD:1353015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8860335 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1353015 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8860335 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8860335 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1353015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8860335 Atp9b ATPase phospholipid transporting 9B (putative) gene DOID:9008419 Volvulus Of Midgut ISO RGD:1353015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8860373 Hk1 hexokinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532|PMID:30778173 8860373 Hk1 hexokinase 1 gene DOID:0080600 COVID-19 ISO RGD:737450 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8860373 Hk1 hexokinase 1 gene DOID:0110196 Charcot-Marie-Tooth disease type 4G ISO RGD:737450 D RGD:7240710 20180130 OMIM 8860373 Hk1 hexokinase 1 gene DOID:0110196 Charcot-Marie-Tooth disease type 4G ISO RGD:737450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4G | ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, Russe type PMID:10915613|PMID:11601496|PMID:17576681|PMID:19536174|PMID:22978647|PMID:23996628|PMID:25741868|PMID:28492532|PMID:30778173|PMID:9536098 8860373 Hk1 hexokinase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30778173 8860373 Hk1 hexokinase 1 gene DOID:10923 sickle cell anemia ISO RGD:737450 D RGD:9068941 20200609 RGD protein:alternative form:erythrocyte PMID:5686464|REF_RGD_ID:11353884 8860373 Hk1 hexokinase 1 gene DOID:11054 urinary bladder cancer treatment ISO RGD:2796 D RGD:9068941 20200609 RGD PMID:23893687|REF_RGD_ID:11353960 8860373 Hk1 hexokinase 1 gene DOID:1826 epilepsy ISO RGD:737450 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8860373 Hk1 hexokinase 1 gene DOID:2355 anemia ISO RGD:737450 D RGD:9068941 20200609 RGD DNA:SNP: :rs7072268 (human) PMID:19651813|REF_RGD_ID:11353879 8860373 Hk1 hexokinase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:10710 D RGD:9068941 20200609 RGD DNA, protein:insertion, decreased activity:intron, kidney, spleen, erythrocyte PMID:11783948|REF_RGD_ID:11353878 8860373 Hk1 hexokinase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737450 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation:CDS:577_672del, 1677T>C (p.L529S) (human) PMID:7655856|REF_RGD_ID:1601519 8860373 Hk1 hexokinase 1 gene DOID:3612 retinitis ISO RGD:737450 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Retinitis PMID:25741868|PMID:28492532 8860373 Hk1 hexokinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8860373 Hk1 hexokinase 1 gene DOID:4448 macular degeneration ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868|PMID:28492532 8860373 Hk1 hexokinase 1 gene DOID:630 genetic disease ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30778173 8860373 Hk1 hexokinase 1 gene DOID:6432 pulmonary hypertension ISO RGD:2796 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:25767292|REF_RGD_ID:11353880 8860373 Hk1 hexokinase 1 gene DOID:8501 fundus dystrophy ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25190649|PMID:25316723|PMID:25741868|PMID:26427411|PMID:28492532|PMID:28765615 8860373 Hk1 hexokinase 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2796 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cardiac ventricle PMID:24525799|REF_RGD_ID:11353961 8860373 Hk1 hexokinase 1 gene DOID:9000780 Hexokinase Deficiency Hemolytic Anemia ISO RGD:737450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hexokinase deficiency hemolytic anemia PMID:11783948|PMID:12211198|PMID:12393545|PMID:19536174|PMID:19608687|PMID:22978647|PMID:25741868|PMID:27282571|PMID:28492532|PMID:30778173|PMID:31119733|PMID:34532855|PMID:6848140|PMID:7655856 8860373 Hk1 hexokinase 1 gene DOID:9003818 NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES ISO RGD:737450 D RGD:7240710 20191016 OMIM 8860373 Hk1 hexokinase 1 gene DOID:9003818 NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with visual defects and brain anomalies PMID:25741868|PMID:28492532|PMID:30778173 8860373 Hk1 hexokinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:30778173 8860373 Hk1 hexokinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8860373 Hk1 hexokinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8860373 Hk1 hexokinase 1 gene DOID:9006276 Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency ISO RGD:737450 D RGD:7240710 20180130 OMIM 8860373 Hk1 hexokinase 1 gene DOID:9006276 Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency ISO RGD:737450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY PMID:11783948|PMID:12211198|PMID:12393545|PMID:19536174|PMID:19608687|PMID:22978647|PMID:25741868|PMID:27282571|PMID:28492532|PMID:30778173|PMID:31119733|PMID:34532855|PMID:6848140|PMID:7655856 8860373 Hk1 hexokinase 1 gene DOID:9006996 Retinitis Pigmentosa 79 ISO RGD:737450 D RGD:7240710 20190315 OMIM 8860373 Hk1 hexokinase 1 gene DOID:9006996 Retinitis Pigmentosa 79 ISO RGD:737450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 79 PMID:25190649|PMID:25316723|PMID:25741868|PMID:26427411|PMID:28492532|PMID:28765615|PMID:30778173 8860373 Hk1 hexokinase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8860373 Hk1 hexokinase 1 gene DOID:9256 colorectal cancer ISO RGD:2796 D RGD:9068941 20200609 RGD PMID:19877886|REF_RGD_ID:11353883 8860373 Hk1 hexokinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8860373 Hk1 hexokinase 1 gene DOID:9538 multiple myeloma ISO RGD:737450 D RGD:9068941 20200609 RGD PMID:19996089|REF_RGD_ID:11353882 8860373 Hk1 hexokinase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737450 D RGD:9068941 20200609 RGD protein:decreased activity:platelet PMID:21921332|REF_RGD_ID:11353881 8860373 Hk1 hexokinase 1 gene DOID:9970 obesity ISO RGD:737450 D RGD:9068941 20200609 RGD PMID:131232|REF_RGD_ID:1601527 8860373 Hk1 hexokinase 1 gene DOID:9970 obesity susceptibility ISO RGD:2796 D RGD:9068941 20200609 RGD PMID:12524468|REF_RGD_ID:1601528 8860404 Reep5 receptor accessory protein 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314440 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:12136240|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8860404 Reep5 receptor accessory protein 5 gene DOID:13580 cholestasis ISO RGD:1314440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8860404 Reep5 receptor accessory protein 5 gene DOID:630 genetic disease ISO RGD:1314440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860404 Reep5 receptor accessory protein 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8860404 Reep5 receptor accessory protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8860404 Reep5 receptor accessory protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8860404 Reep5 receptor accessory protein 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314440 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8860404 Reep5 receptor accessory protein 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8860411 Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:14330 Parkinson's disease ISO RGD:732808 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 8860411 Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:630 genetic disease ISO RGD:737541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860411 Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:9000117 Esophageal Neoplasms ISO RGD:737541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 8860411 Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:9002346 Pharyngeal Neoplasms ISO RGD:737541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 8860411 Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:9003613 Laryngeal Neoplasms ISO RGD:737541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 8860411 Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide gene DOID:9007364 Mouth Neoplasms ISO RGD:737541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18500343 8860435 Defb129 defensin beta 129 gene DOID:630 genetic disease ISO RGD:1347595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860435 Defb129 defensin beta 129 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8860439 Fmnl1 formin like 1 gene DOID:630 genetic disease ISO RGD:1322289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860439 Fmnl1 formin like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8860481 Satb1 SATB homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1313660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8860481 Satb1 SATB homeobox 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1313660 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8860481 Satb1 SATB homeobox 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1313661 D RGD:9068941 20220825 MouseDO OMIM:270150 8860481 Satb1 SATB homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1313660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8860481 Satb1 SATB homeobox 1 gene DOID:630 genetic disease ISO RGD:1313660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16371359|PMID:17652321|PMID:27462121|PMID:33513338 8860481 Satb1 SATB homeobox 1 gene DOID:9000289 DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES ISO RGD:1313660 D RGD:7240710 20210414 OMIM 8860481 Satb1 SATB homeobox 1 gene DOID:9000289 DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES ISO RGD:1313660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies | ClinVar Annotator: match by term: SATB1-related condition PMID:25741868|PMID:28492532|PMID:33513338|PMID:34782754 8860481 Satb1 SATB homeobox 1 gene DOID:9003563 KOHLSCHUTTER-TONZ SYNDROME-LIKE ISO RGD:1313660 D RGD:7240710 20210414 OMIM 8860481 Satb1 SATB homeobox 1 gene DOID:9003563 KOHLSCHUTTER-TONZ SYNDROME-LIKE ISO RGD:1313660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kohlschutter-Tonz syndrome-like PMID:15930900|PMID:16371359|PMID:17652321|PMID:25741868|PMID:27462121|PMID:28492532|PMID:33513338|PMID:34782754 8860481 Satb1 SATB homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8860481 Satb1 SATB homeobox 1 gene DOID:9006205 Animal Disease Models ISO RGD:1313660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8860481 Satb1 SATB homeobox 1 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:1313660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism type II PMID:29403011 8860508 Wscd1 WSC domain containing 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8860508 Wscd1 WSC domain containing 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1603698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8860508 Wscd1 WSC domain containing 1 gene DOID:630 genetic disease ISO RGD:1603698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860508 Wscd1 WSC domain containing 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1603698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:736866 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:71101 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:22112382|REF_RGD_ID:11040992 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:736866 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:71101 D RGD:9068941 20200609 RGD PMID:14731123|REF_RGD_ID:1598620 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:12700 hyperprolactinemia ISO RGD:71101 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:23486593|REF_RGD_ID:11535162 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:13580 cholestasis ISO RGD:71101 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18096675|PMID:23486593|REF_RGD_ID:11535162|REF_RGD_ID:2301060 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:13580 cholestasis ISO RGD:736866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:1793 pancreatic cancer severity ISO RGD:736866 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:15688370|REF_RGD_ID:2325200 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:2741 bilirubin metabolic disorder ISO RGD:71101 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16543292|REF_RGD_ID:2301069 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:557 kidney disease severity ISO RGD:71101 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:17855625|REF_RGD_ID:2301062 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:630 genetic disease ISO RGD:736866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:71101 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:25842354|REF_RGD_ID:11535155 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:7148 rheumatoid arthritis ISO RGD:736866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:783 end stage renal disease ISO RGD:71101 D RGD:9068941 20200609 RGD protein:decreased expression:intestine PMID:17135344|REF_RGD_ID:2301067 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:9005369 Hepatomegaly ISO RGD:736866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:71101 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:20487213|REF_RGD_ID:11541075 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736866 D RGD:9068941 20200609 RGD PMID:26512967|REF_RGD_ID:11081145 8860548 Abcc3 ATP binding cassette subfamily C member 3 gene DOID:9452 steatotic liver disease ISO RGD:71101 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:17640958|REF_RGD_ID:2301064 8860588 Nop9 NOP9 nucleolar protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8860588 Nop9 NOP9 nucleolar protein gene DOID:630 genetic disease ISO RGD:1318142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860588 Nop9 NOP9 nucleolar protein gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318142 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8860588 Nop9 NOP9 nucleolar protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318142 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8860588 Nop9 NOP9 nucleolar protein gene DOID:9008939 Breast Neoplasms ISO RGD:1318142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8860607 Fcsk fucose kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8860607 Fcsk fucose kinase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1315934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8860607 Fcsk fucose kinase gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1315934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG4-CDG PMID:19494034 8860607 Fcsk fucose kinase gene DOID:630 genetic disease ISO RGD:1315934 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8860607 Fcsk fucose kinase gene DOID:9001022 Congenital Disorder of Glycosylation with Defective Fucosylation ISO RGD:1315934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation PMID:28492532 8860607 Fcsk fucose kinase gene DOID:9001746 Congenital Disorder of Glycosylation with Defective Fucosylation 2 ISO RGD:1315934 D RGD:7240710 20190315 OMIM 8860607 Fcsk fucose kinase gene DOID:9001746 Congenital Disorder of Glycosylation with Defective Fucosylation 2 ISO RGD:1315934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 2 | ClinVar Annotator: match by term: FCSK-related condition PMID:16199547|PMID:25741868|PMID:28492532|PMID:30503518 8860607 Fcsk fucose kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315934 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8860643 Capns2 calpain small subunit 2 gene DOID:630 genetic disease ISO RGD:1345503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860648 Atg4b autophagy related 4B cysteine peptidase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1320126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8860648 Atg4b autophagy related 4B cysteine peptidase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1320126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8860648 Atg4b autophagy related 4B cysteine peptidase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1320126 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8860648 Atg4b autophagy related 4B cysteine peptidase gene DOID:1059 intellectual disability ISO RGD:1320126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8860648 Atg4b autophagy related 4B cysteine peptidase gene DOID:630 genetic disease ISO RGD:1320126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860648 Atg4b autophagy related 4B cysteine peptidase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1320126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:630 genetic disease ISO RGD:1353774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:863 nervous system disease ISO RGD:1353774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1353774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:9007502 Brain Neoplasms ISO RGD:1353774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8860668 Hes5 hes family bHLH transcription factor 5 gene DOID:9351 diabetes mellitus ISO RGD:621340 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 8860680 Zbtb9 zinc finger and BTB domain containing 9 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1354226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8860680 Zbtb9 zinc finger and BTB domain containing 9 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1354226 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8860680 Zbtb9 zinc finger and BTB domain containing 9 gene DOID:630 genetic disease ISO RGD:1354226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860696 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:10126 keratoconus ISO RGD:1347828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 8860696 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:11054 urinary bladder cancer ISO RGD:1347828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29275364 8860696 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:5419 schizophrenia ISO RGD:1347828 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:12851458|REF_RGD_ID:1358563 8860696 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:5419 schizophrenia ISO RGD:1347828 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:15820226|REF_RGD_ID:13515121 8860696 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:1347828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860696 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1347828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29275364 8860696 Ppp3cc protein phosphatase 3 catalytic subunit gamma gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1347828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:1793 pancreatic cancer ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16965396 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:1909 melanoma ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17372906 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:630 genetic disease ISO RGD:736798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17464989|PMID:28284560 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528|PMID:17379860 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:8398 osteoarthritis ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:8466 retinal degeneration ISO RGD:736798 D RGD:9068941 20200609 RGD PMID:15184935|REF_RGD_ID:11060273 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17372906 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736798 D RGD:9068941 20200609 RGD PMID:11687973|REF_RGD_ID:11060269 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:628629 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:carotid artery: PMID:20537494|REF_RGD_ID:11060271 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19435926 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:736798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8860735 Tfpi2 tissue factor pathway inhibitor 2 gene DOID:9119 acute myeloid leukemia ISO RGD:736798 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:22052167|REF_RGD_ID:11060127 8860777 Ppp1r42 protein phosphatase 1 regulatory subunit 42 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1606658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 8860777 Ppp1r42 protein phosphatase 1 regulatory subunit 42 gene DOID:630 genetic disease ISO RGD:1606658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0080763 diffuse gastric cancer severity ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:enhancer: (rs889312) (human) PMID:24759887|REF_RGD_ID:150573718 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0111769 46,XY sex reversal 6 ISO RGD:733801 D RGD:7240710 20180130 OMIM 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0111769 46,XY sex reversal 6 ISO RGD:733801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 6 PMID:11242112|PMID:12476449|PMID:20301714|PMID:21129722|PMID:24135036|PMID:24497709|PMID:25326637|PMID:25383892|PMID:25741868|PMID:27899157|PMID:28492532|PMID:28504475|PMID:30608580|PMID:30872814|PMID:32985417|PMID:5419329 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:enhancer: (rs889312) (human) PMID:31686841|REF_RGD_ID:150573716 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:intron:g.56206570C>G (rs16886448) (human) PMID:23042672|REF_RGD_ID:150573715 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1612 breast cancer ISO RGD:733801 D RGD:9068941 20200609 RGD DNA:SNP:linkage disequilibrium block:minor allele of SNP rs889312, p=7x10e-20 PMID:17529967|REF_RGD_ID:2289657 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1612 breast cancer ISO RGD:733801 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:increased expression in luminal A and normal-like vs other molecular subtypes, (p=5.2x10e-5) PMID:18036273|REF_RGD_ID:2293356 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:733801 D RGD:9068941 20200609 RGD DNA:SNP:linkage disequilibrium block:minor allele associated with reduced risk of lymph node involvement at diagnosis (p=0.044) PMID:17997823|REF_RGD_ID:2293357 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1923 disorder of sexual development ISO RGD:733801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1993 rectum cancer susceptibility ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:intron: (rs43184) (human) PMID:23859041|REF_RGD_ID:150573807 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:1993 rectum cancer treatment ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNP:intron: (rs2548663) (human) PMID:23027623|REF_RGD_ID:13217411 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:3748 esophagus squamous cell carcinoma sexual_dimorphism ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human) PMID:32753933|REF_RGD_ID:150573717 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:733801 D RGD:9068941 20220114 RGD DNA:SNPs:5'-UTR, intron 1: (rs17661089, rs16886403, rs726501) (human) PMID:21636554|REF_RGD_ID:150573805 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:630 genetic disease ISO RGD:733801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28504475 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733801 D RGD:9068941 20220114 RGD mRNA:decreased expression:liver (human) PMID:31310010|REF_RGD_ID:150573714 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9004538 Hearing Loss ISO RGD:733801 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:28492532|PMID:30311386|PMID:30872814 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17529967 8860800 Map3k1 mitogen-activated protein kinase kinase kinase 1 gene DOID:9009121 lung metastasis ameliorates ISO RGD:733802 D RGD:9068941 20220114 RGD associated with breast carcinoma PMID:16568086|REF_RGD_ID:150573808 8860824 Slc38a4 solute carrier family 38 member 4 gene DOID:630 genetic disease ISO RGD:1347009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860849 Tmem30b transmembrane protein 30B gene DOID:1909 melanoma ISO RGD:1318678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8860849 Tmem30b transmembrane protein 30B gene DOID:630 genetic disease ISO RGD:1318678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860869 Tufm Tu translation elongation factor, mitochondrial gene DOID:0050692 Brody myopathy ISO RGD:1313566 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:17882224|PMID:24707176|PMID:28492532 8860869 Tufm Tu translation elongation factor, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:17576681|PMID:28492532|PMID:9536098 8860869 Tufm Tu translation elongation factor, mitochondrial gene DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb ISO RGD:1313566 D RGD:8554872 20231226 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 8860869 Tufm Tu translation elongation factor, mitochondrial gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 8860869 Tufm Tu translation elongation factor, mitochondrial gene DOID:0111494 combined oxidative phosphorylation deficiency 4 ISO RGD:1313566 D RGD:7240710 20180130 OMIM 8860869 Tufm Tu translation elongation factor, mitochondrial gene DOID:0111494 combined oxidative phosphorylation deficiency 4 ISO RGD:1313566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4 PMID:17160893|PMID:19524667|PMID:20435138|PMID:25741868|PMID:26741492|PMID:28492532 8860869 Tufm Tu translation elongation factor, mitochondrial gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8860869 Tufm Tu translation elongation factor, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1313566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8860869 Tufm Tu translation elongation factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1313566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8860869 Tufm Tu translation elongation factor, mitochondrial gene DOID:9000117 Esophageal Neoplasms ISO RGD:1313566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8860883 Znf862 zinc finger protein 862 gene DOID:0060466 gingival fibromatosis ISO RGD:2299992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gingival fibromatosis PMID:25741868 8860883 Znf862 zinc finger protein 862 gene DOID:2843 long QT syndrome ISO RGD:2299992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8860883 Znf862 zinc finger protein 862 gene DOID:630 genetic disease ISO RGD:2299992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860903 Rpl31 ribosomal protein L31 gene DOID:630 genetic disease ISO RGD:734080 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8860903 Rpl31 ribosomal protein L31 gene DOID:9008939 Breast Neoplasms ISO RGD:734080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8860912 Hebp2 heme binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1323071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8860912 Hebp2 heme binding protein 2 gene DOID:630 genetic disease ISO RGD:1323071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860912 Hebp2 heme binding protein 2 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1323071 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8860912 Hebp2 heme binding protein 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1323071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 8860921 Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 gene DOID:0050562 West syndrome ISO RGD:1317115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:9536098 8860921 Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1317115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8860945 Smtnl1 smoothelin like 1 gene DOID:1059 intellectual disability ISO RGD:1601815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8860945 Smtnl1 smoothelin like 1 gene DOID:630 genetic disease ISO RGD:1601815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8860960 Polr3h RNA polymerase III subunit H gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8860960 Polr3h RNA polymerase III subunit H gene DOID:0050883 infantile cerebellar-retinal degeneration ISO RGD:1314191 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:24088041|PMID:25351951|PMID:25741868|PMID:26992325|PMID:28492532|PMID:29564393|PMID:30689204|PMID:31130284|PMID:32519519 8860960 Polr3h RNA polymerase III subunit H gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1314191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8860960 Polr3h RNA polymerase III subunit H gene DOID:0111442 optic atrophy 9 ISO RGD:1314191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 PMID:25351951|PMID:25741868|PMID:28492532|PMID:32449285|PMID:34056600 8860960 Polr3h RNA polymerase III subunit H gene DOID:5426 primary ovarian insufficiency ISO RGD:1314192 D RGD:9068941 20220825 MouseDO 8860960 Polr3h RNA polymerase III subunit H gene DOID:630 genetic disease ISO RGD:1314191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:30689204|PMID:32519519|PMID:9536098 8860979 Ubp1 upstream binding protein 1 gene DOID:630 genetic disease ISO RGD:1345367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861009 Ccdc103 coiled-coil domain containing 103 gene DOID:0050144 Kartagener syndrome ISO RGD:1602038 D RGD:9068941 20221013 CTD CTD Direct Evidence: marker/mechanism PMID:22581229 8861009 Ccdc103 coiled-coil domain containing 103 gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:1602038 D RGD:7240710 20180130 OMIM 8861009 Ccdc103 coiled-coil domain containing 103 gene DOID:0110621 primary ciliary dyskinesia 17 ISO RGD:1602038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25326635|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075 8861009 Ccdc103 coiled-coil domain containing 103 gene DOID:5223 infertility ISO RGD:1602038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25326635|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075 8861009 Ccdc103 coiled-coil domain containing 103 gene DOID:630 genetic disease ISO RGD:1602038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861009 Ccdc103 coiled-coil domain containing 103 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602038 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:22581229|PMID:23891469|PMID:24033266|PMID:24357714|PMID:25326635|PMID:25741868|PMID:26123568|PMID:27637300|PMID:28492532|PMID:28790179|PMID:30067075|PMID:35626283|PMID:9536098 8861049 Dennd2c DENN domain containing 2C gene DOID:0080690 RASopathy ISO RGD:1604979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8861049 Dennd2c DENN domain containing 2C gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1604979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8861049 Dennd2c DENN domain containing 2C gene DOID:630 genetic disease ISO RGD:1604979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861078 Cdk16 cyclin dependent kinase 16 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8861078 Cdk16 cyclin dependent kinase 16 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8861078 Cdk16 cyclin dependent kinase 16 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8861078 Cdk16 cyclin dependent kinase 16 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8861078 Cdk16 cyclin dependent kinase 16 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:734014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 8861078 Cdk16 cyclin dependent kinase 16 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:734014 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8861078 Cdk16 cyclin dependent kinase 16 gene DOID:1059 intellectual disability ISO RGD:734014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8861078 Cdk16 cyclin dependent kinase 16 gene DOID:12849 autistic disorder ISO RGD:734014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8861078 Cdk16 cyclin dependent kinase 16 gene DOID:630 genetic disease ISO RGD:734014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861078 Cdk16 cyclin dependent kinase 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8861143 Ykt6 YKT6 v-SNARE homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8861143 Ykt6 YKT6 v-SNARE homolog gene DOID:630 genetic disease ISO RGD:735770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861164 Ncoa5 nuclear receptor coactivator 5 gene DOID:2234 focal epilepsy ISO RGD:1317043 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8861164 Ncoa5 nuclear receptor coactivator 5 gene DOID:630 genetic disease ISO RGD:1317043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861185 LOC102023109 cytochrome c1, heme protein, mitochondrial gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1315303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8861185 LOC102023109 cytochrome c1, heme protein, mitochondrial gene DOID:0080115 mitochondrial complex III deficiency nuclear type 6 ISO RGD:1315303 D RGD:7240710 20180130 OMIM 8861185 LOC102023109 cytochrome c1, heme protein, mitochondrial gene DOID:0080115 mitochondrial complex III deficiency nuclear type 6 ISO RGD:1315303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 6 PMID:23910460|PMID:25741868|PMID:28492532 8861185 LOC102023109 cytochrome c1, heme protein, mitochondrial gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8861185 LOC102023109 cytochrome c1, heme protein, mitochondrial gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8861185 LOC102023109 cytochrome c1, heme protein, mitochondrial gene DOID:4621 holoprosencephaly ISO RGD:1315303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8861185 LOC102023109 cytochrome c1, heme protein, mitochondrial gene DOID:630 genetic disease ISO RGD:1315303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8861210 Eeig2 EEIG family member 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8861210 Eeig2 EEIG family member 2 gene DOID:12849 autistic disorder ISO RGD:1603518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8861210 Eeig2 EEIG family member 2 gene DOID:630 genetic disease ISO RGD:1603518 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861210 Eeig2 EEIG family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603518 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8861228 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1602120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8861228 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0090019 sitosterolemia ISO RGD:1602120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Plant sterol storage disease | ClinVar Annotator: match by term: Sitosterolemia PMID:11138003|PMID:11452359|PMID:11668628|PMID:11855938|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16029460|PMID:16199547|PMID:17228349|PMID:17576681|PMID:17976197|PMID:19111681|PMID:19667188|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21576934|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:26892138|PMID:27170062|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28748566|PMID:28771437|PMID:29055934|PMID:29066094|PMID:29304564|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31392106|PMID:31589614|PMID:31795497|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34268478|PMID:34304999|PMID:34505049|PMID:34615826|PMID:34887220|PMID:34969652|PMID:34998859|PMID:35741760|PMID:36229885|PMID:9536098 8861228 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:17576681|PMID:26077881|PMID:26130459|PMID:28492532|PMID:32815859|PMID:9536098 8861228 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1602120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:29068549 8861228 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:1588 thrombocytopenia ISO RGD:1602120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749|PMID:32088153 8861228 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:2213 hemorrhagic disease ISO RGD:1602120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8861228 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:3883 Lynch syndrome ISO RGD:1602120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8861228 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1602120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11138003|PMID:17228349|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20719861|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28492532|PMID:28521186|PMID:29055934|PMID:29353225|PMID:29886606|PMID:30528907|PMID:30697800|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31392106|PMID:31589614|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32862661|PMID:33217533|PMID:33269076|PMID:34268478|PMID:34304999|PMID:34615826|PMID:34887220|PMID:34969652|PMID:36229885 8861228 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9001723 Sitosterolemia 2 ISO RGD:1602120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11099417|PMID:11138003|PMID:11668628|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16029460|PMID:17228349|PMID:17976197|PMID:19111681|PMID:19667188|PMID:20521169|PMID:20543520|PMID:20719861|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28748566|PMID:28771437|PMID:29055934|PMID:29066094|PMID:29304564|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31392106|PMID:31589614|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34093240|PMID:34268478|PMID:34304999|PMID:34355501|PMID:34505049|PMID:34615826|PMID:34887220|PMID:34969652|PMID:34998859|PMID:35741760|PMID:36229885 8861228 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9002547 Sitosterolemia 1 ISO RGD:1602120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11138003|PMID:11668628|PMID:16029460|PMID:17228349|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20719861|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28748566|PMID:29055934|PMID:29066094|PMID:29304564|PMID:29353225|PMID:29886606|PMID:30528907|PMID:30697800|PMID:30833958|PMID:31060161|PMID:31064749|PMID:31392106|PMID:31589614|PMID:32041611|PMID:32088153|PMID:32862661|PMID:33217533|PMID:33269076|PMID:34268478|PMID:34304999|PMID:34887220|PMID:34969652|PMID:34998859|PMID:35741760|PMID:36229885 8861228 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9004314 Short-Rib Thoracic Dysplasia 15 with Polydactyly ISO RGD:1602120 D RGD:7240710 20190315 OMIM 8861228 Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 gene DOID:9004314 Short-Rib Thoracic Dysplasia 15 with Polydactyly ISO RGD:1602120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly PMID:17576681|PMID:25741868|PMID:26077881|PMID:26130459|PMID:28492532|PMID:28857138|PMID:32815859|PMID:8960501|PMID:9536098 8861245 Gpr137c G protein-coupled receptor 137C gene DOID:630 genetic disease ISO RGD:1603253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861264 Zbtb2 zinc finger and BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1315344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861276 Rmi1 RecQ mediated genome instability 1 gene DOID:0080600 COVID-19 ISO RGD:1321710 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8861276 Rmi1 RecQ mediated genome instability 1 gene DOID:630 genetic disease ISO RGD:1321710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861276 Rmi1 RecQ mediated genome instability 1 gene DOID:9256 colorectal cancer ISO RGD:1321710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8861293 Ctnnd2 catenin delta 2 gene DOID:1470 major depressive disorder susceptibility ISO RGD:1353744 D RGD:9068941 20201218 RGD DNA:polymorphism:multiple (human) PMID:24256404|REF_RGD_ID:40902831 8861293 Ctnnd2 catenin delta 2 gene DOID:2030 anxiety disorder susceptibility ISO RGD:1353744 D RGD:9068941 20201218 RGD DNA:polymorphism:multiple (human) PMID:24256404|REF_RGD_ID:40902831 8861293 Ctnnd2 catenin delta 2 gene DOID:3068 glioblastoma ISO RGD:1353744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 8861293 Ctnnd2 catenin delta 2 gene DOID:5419 schizophrenia ISO RGD:1353744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8861293 Ctnnd2 catenin delta 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1353744 D RGD:9068941 20201218 RGD DNA:polymorphism:multiple (human) PMID:24256404|REF_RGD_ID:40902831 8861293 Ctnnd2 catenin delta 2 gene DOID:630 genetic disease ISO RGD:1353744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12835311|PMID:15733271|PMID:25106414|PMID:25473103|PMID:25741868|PMID:25807484|PMID:25839933|PMID:26601658|PMID:29127138 8861293 Ctnnd2 catenin delta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353744 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8861293 Ctnnd2 catenin delta 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1353744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:0060041 autism spectrum disorder ISO RGD:1346613 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1346613 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28774887|REF_RGD_ID:15045601 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1346613 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10775536|PMID:11181744|PMID:12933951|PMID:14741198|PMID:16157755|PMID:16278884|PMID:16816916|PMID:17697869|PMID:18227423|PMID:19092443|PMID:2019602|PMID:20402754|PMID:21073839|PMID:21645175|PMID:21955034|PMID:21958693|PMID:22878431|PMID:24002088|PMID:24033266|PMID:24584636|PMID:24746394|PMID:25447658|PMID:25741868|PMID:25862734|PMID:25941960|PMID:25983621|PMID:26156051|PMID:26206375|PMID:26861945|PMID:26906304|PMID:28324197|PMID:28492532|PMID:28623566|PMID:28894950|PMID:29095540|PMID:29260356|PMID:29321515|PMID:32523054|PMID:33414089|PMID:33659184|PMID:33977023|PMID:34234304|PMID:8950197|PMID:9186905|PMID:9790667 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:13580 cholestasis ISO RGD:1346613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15795599 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:727915 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:1936 atherosclerosis ISO RGD:1346613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11166758|PMID:19801147 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:3393 coronary artery disease ISO RGD:1346613 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Premature coronary artery atherosclerosis PMID:25741868|PMID:28492532 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346613 D RGD:7240710 20180130 OMIM 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1346613 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis | ClinVar Annotator: match by term: Cholestanol storage disease PMID:10206677|PMID:10406988|PMID:10430841|PMID:10519880|PMID:10741487|PMID:10775536|PMID:11181744|PMID:11313766|PMID:11737215|PMID:11903362|PMID:12000359|PMID:12270007|PMID:12555943|PMID:12933951|PMID:14741198|PMID:14999499|PMID:15795599|PMID:16157755|PMID:16199547|PMID:16278884|PMID:16372260|PMID:16816916|PMID:17030721|PMID:17319284|PMID:17444890|PMID:17576681|PMID:17697869|PMID:18227423|PMID:18414213|PMID:19092443|PMID:19204079|PMID:19373932|PMID:2019602|PMID:20301583|PMID:20402754|PMID:20450308|PMID:20558929|PMID:20602799|PMID:20925952|PMID:20981092|PMID:21073839|PMID:21228398|PMID:21345536|PMID:21404287|PMID:21553098|PMID:21627786|PMID:21645175|PMID:21764626|PMID:21955034|PMID:21958693|PMID:21966169|PMID:22197981|PMID:22336472|PMID:22849591|PMID:22878431|PMID:23212406|PMID:23287330|PMID:23659550|PMID:24002088|PMID:24033266|PMID:24080357|PMID:24174808|PMID:24584636|PMID:24627108|PMID:24746394|PMID:25112387|PMID:25447658|PMID:25525159|PMID:25558065|PMID:25741868|PMID:25862734|PMID:25941960|PMID:25983621|PMID:26156051|PMID:26206375|PMID:26467025|PMID:26519892|PMID:26622071|PMID:26643207|PMID:26861945|PMID:26906304|PMID:26937392|PMID:27084087|PMID:27142713|PMID:27225395|PMID:27455001|PMID:27535533|PMID:27678445|PMID:27680221|PMID:27858369|PMID:27878435|PMID:27879219|PMID:27884173|PMID:28229379|PMID:28324197|PMID:28337550|PMID:28492532|PMID:28590052|PMID:28623566|PMID:28749476|PMID:28894950|PMID:28937538|PMID:29095540|PMID:29242796|PMID:29260356|PMID:29269672|PMID:29321515|PMID:29434128|PMID:30366773|PMID:31384146|PMID:31450232|PMID:31743419|PMID:31796091|PMID:32523054|PMID:32581172|PMID:32714376|PMID:32793533|PMID:33020668|PMID:33313117|PMID:33400472|PMID:33414089|PMID:33624863|PMID:33659184|PMID:33830582|PMID:33977023|PMID:34012265|PMID:34103343|PMID:34145886|PMID:34234304|PMID:34689324|PMID:34930075|PMID:35949830|PMID:36628393|PMID:7697869|PMID:7860076|PMID:7915755|PMID:8006521|PMID:8014582|PMID:8309576|PMID:8514861|PMID:8730343|PMID:8827518|PMID:8931710|PMID:8950197|PMID:9008528|PMID:9186905|PMID:9254865|PMID:9392430|PMID:9521761|PMID:9536098|PMID:9548584|PMID:9654207|PMID:9790667 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:5082 liver cirrhosis ISO RGD:1346613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:543 dystonia ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Regression of motor development with severe dystonia and corresponding basal ganglia lesions PMID:25558065|PMID:25741868|PMID:26643207|PMID:28492532 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:630 genetic disease ISO RGD:1346613 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10775536|PMID:12000359|PMID:17576681|PMID:25558065|PMID:25741868|PMID:26467025|PMID:26643207|PMID:26937392|PMID:28492532|PMID:28623566|PMID:30366773|PMID:32581172|PMID:33020668|PMID:33414089|PMID:9392430|PMID:9536098 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1346613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8861327 LOC102004889 sterol 26-hydroxylase, mitochondrial gene DOID:905 Zellweger syndrome ISO RGD:1550475 D RGD:9068941 20200609 RGD PMID:14673138|REF_RGD_ID:13782195 8861341 Lrrc52 leucine rich repeat containing 52 gene DOID:1540 parathyroid carcinoma ISO RGD:1603449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8861341 Lrrc52 leucine rich repeat containing 52 gene DOID:630 genetic disease ISO RGD:1603449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861341 Lrrc52 leucine rich repeat containing 52 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:733765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:0070316 Miura type epiphyseal chondrodysplasia ISO RGD:733765 D RGD:7240710 20180130 OMIM 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:0070316 Miura type epiphyseal chondrodysplasia ISO RGD:733765 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epiphyseal chondrodysplasia, miura type | ClinVar Annotator: match by term: Tall stature-scoliosis-macrodactyly of the great toes syndrome PMID:22870295|PMID:23827346|PMID:24057292|PMID:24259409|PMID:25387261|PMID:25741868|PMID:26633542|PMID:28492532|PMID:30359775|PMID:30544148|PMID:32282051|PMID:32720985 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:0080049 acromesomelic dysplasia ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia PMID:28492532 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733765 D RGD:7240710 20180130 OMIM 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:733765 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:15146390|PMID:15572448|PMID:16199547|PMID:16384845|PMID:17576681|PMID:18945719|PMID:22691581|PMID:23065701|PMID:24001744|PMID:24259409|PMID:24471569|PMID:25387261|PMID:25703509|PMID:25741868|PMID:25959430|PMID:26075495|PMID:26284228|PMID:26349192|PMID:26567084|PMID:26633542|PMID:26980729|PMID:27994189|PMID:28492532|PMID:30359775|PMID:30408610|PMID:30602027|PMID:30622824|PMID:31960617|PMID:31990356|PMID:32506268|PMID:32694885|PMID:32720985|PMID:33205215|PMID:33288834|PMID:34006472|PMID:34008892|PMID:34162036|PMID:34217350|PMID:35368703|PMID:35455946|PMID:9536098 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:0081422 familial focal epilepsy with variable foci 2 ISO RGD:733765 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 PMID:25387261|PMID:25741868|PMID:26633542|PMID:28492532|PMID:30359775|PMID:30408610|PMID:32720985 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:1059 intellectual disability ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:10825 essential hypertension ISO RGD:733765 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS2+150(GT)10-11 (human) PMID:10082481|REF_RGD_ID:1580772 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:4480 achondroplasia ISO RGD:736630 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L885R (mouse) PMID:15722353|REF_RGD_ID:1580771 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:4480 achondroplasia ISO RGD:736630 D RGD:9068941 20220825 MouseDO OMIM:100800 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:630 genetic disease ISO RGD:733765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:9001915 Short Stature with Nonspecific Skeletal Abnormalities ISO RGD:733765 D RGD:7240710 20180130 OMIM 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:9001915 Short Stature with Nonspecific Skeletal Abnormalities ISO RGD:733765 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities PMID:15146390|PMID:15572448|PMID:16384845|PMID:22691581|PMID:24001744|PMID:24471569|PMID:25741868|PMID:25959430|PMID:26075495|PMID:26349192|PMID:27994189|PMID:28492532|PMID:30602027|PMID:31960617|PMID:31990356|PMID:33288834|PMID:34006472|PMID:35368703 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:9005396 Intimal Hyperplasia ameliorates ISO RGD:620851 D RGD:9068941 20231130 RGD PMID:26410366|REF_RGD_ID:11528696 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:9007661 Dwarfism ISO RGD:733765 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:35741827 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:733765 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8861347 Npr2 natriuretic peptide receptor 2 gene DOID:9870 galactosemia ISO RGD:733765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8861375 Kbtbd2 kelch repeat and BTB domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8861375 Kbtbd2 kelch repeat and BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:1321151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861391 Areg amphiregulin gene DOID:0060074 ductal carcinoma in situ ISO RGD:1345760 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:8543395|REF_RGD_ID:2292664 8861391 Areg amphiregulin gene DOID:0080600 COVID-19 ISO RGD:1345760 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8861391 Areg amphiregulin gene DOID:11054 urinary bladder cancer ISO RGD:736382 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:11133810|REF_RGD_ID:2292662 8861391 Areg amphiregulin gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1345760 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:11507076|REF_RGD_ID:2292661 8861391 Areg amphiregulin gene DOID:13270 erythropoietic protoporphyria ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19267999 8861391 Areg amphiregulin gene DOID:1612 breast cancer ISO RGD:1345760 D RGD:9068941 20200609 RGD PMID:16438846|REF_RGD_ID:2292658 8861391 Areg amphiregulin gene DOID:1749 squamous cell carcinoma ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11237771 8861391 Areg amphiregulin gene DOID:2671 transitional cell carcinoma ISO RGD:1345760 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:16469638|REF_RGD_ID:2289980 8861391 Areg amphiregulin gene DOID:2841 asthma ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15696081 8861391 Areg amphiregulin gene DOID:289 endometriosis ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8861391 Areg amphiregulin gene DOID:3008 invasive ductal carcinoma ISO RGD:1345760 D RGD:9068941 20200609 RGD PMID:11523048|REF_RGD_ID:2292660 8861391 Areg amphiregulin gene DOID:3070 high grade glioma ISO RGD:2149 D RGD:9068941 20200609 RGD PMID:8621257|REF_RGD_ID:2292668 8861391 Areg amphiregulin gene DOID:3770 pulmonary fibrosis ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26817844 8861391 Areg amphiregulin gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427|PMID:16230376 8861391 Areg amphiregulin gene DOID:630 genetic disease ISO RGD:1345760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861391 Areg amphiregulin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8861391 Areg amphiregulin gene DOID:8634 prostate carcinoma in situ ISO RGD:1345760 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14716741|REF_RGD_ID:2292659 8861391 Areg amphiregulin gene DOID:9000217 Stomach Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15723263|PMID:15940630|PMID:16367923 8861391 Areg amphiregulin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:2149 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18421211|REF_RGD_ID:2292665 8861391 Areg amphiregulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:14716741|REF_RGD_ID:2292659 8861391 Areg amphiregulin gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15313392 8861391 Areg amphiregulin gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1345760 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:endometrium PMID:16962163|REF_RGD_ID:2289950 8861391 Areg amphiregulin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2149 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18421211|REF_RGD_ID:2292665 8861391 Areg amphiregulin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736382 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:10225449|REF_RGD_ID:2292663 8861391 Areg amphiregulin gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 8861391 Areg amphiregulin gene DOID:9007102 Myocardial Ischemia ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8861391 Areg amphiregulin gene DOID:9008939 Breast Neoplasms ISO RGD:1345760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11237771 8861401 Cst3 cystatin C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8861401 Cst3 cystatin C gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736914 D RGD:7240710 20180130 OMIM 8861401 Cst3 cystatin C gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type PMID:11815350|PMID:2363674|PMID:2567273|PMID:25741868|PMID:25893795|PMID:28492532|PMID:2900981|PMID:33116287|PMID:8108423 8861401 Cst3 cystatin C gene DOID:0110023 age related macular degeneration 11 ISO RGD:736914 D RGD:7240710 20180130 OMIM 8861401 Cst3 cystatin C gene DOID:0110023 age related macular degeneration 11 ISO RGD:736914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 11 PMID:11815350|PMID:25741868|PMID:25893795|PMID:28492532|PMID:33116287 8861401 Cst3 cystatin C gene DOID:10579 leukodystrophy ISO RGD:736914 D RGD:8554872 20231017 ClinVar ClinVar Annotator: match by term: CST3-related Leukodystrophy PMID:25741868 8861401 Cst3 cystatin C gene DOID:10591 pre-eclampsia ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:18197549|REF_RGD_ID:2314350 8861401 Cst3 cystatin C gene DOID:10652 Alzheimer's disease ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17192785|PMID:18026100 8861401 Cst3 cystatin C gene DOID:10652 Alzheimer's disease ISO RGD:736914 D RGD:9068941 20200806 RGD protein:increased expression:plasma PMID:15907478|REF_RGD_ID:1358533 8861401 Cst3 cystatin C gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:18824671|REF_RGD_ID:2314333 8861401 Cst3 cystatin C gene DOID:10941 intracranial aneurysm ISO RGD:2432 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 8861401 Cst3 cystatin C gene DOID:10941 intracranial aneurysm ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 8861401 Cst3 cystatin C gene DOID:11758 iron deficiency anemia ISO RGD:2432 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:18723004|REF_RGD_ID:2301196 8861401 Cst3 cystatin C gene DOID:12842 Guillain-Barre syndrome ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:11134381|REF_RGD_ID:5686395 8861401 Cst3 cystatin C gene DOID:1287 cardiovascular system disease ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21356263 8861401 Cst3 cystatin C gene DOID:1389 polyneuropathy ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:11134381|REF_RGD_ID:5686395 8861401 Cst3 cystatin C gene DOID:2316 brain ischemia ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:18261165|REF_RGD_ID:2314349 8861401 Cst3 cystatin C gene DOID:2377 multiple sclerosis ISO RGD:10415 D RGD:9068941 20200609 RGD PMID:17086443|REF_RGD_ID:5686392 8861401 Cst3 cystatin C gene DOID:2377 multiple sclerosis ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:12589965|REF_RGD_ID:5686394 8861401 Cst3 cystatin C gene DOID:3021 acute kidney failure ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22005293|PMID:28885000 8861401 Cst3 cystatin C gene DOID:3393 coronary artery disease ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:17983622|REF_RGD_ID:2314352 8861401 Cst3 cystatin C gene DOID:341 peripheral vascular disease ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19761940|REF_RGD_ID:2314304 8861401 Cst3 cystatin C gene DOID:3565 meningioma ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 8861401 Cst3 cystatin C gene DOID:557 kidney disease ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22525860|PMID:24863737 8861401 Cst3 cystatin C gene DOID:557 kidney disease onset ISO RGD:736914 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) PMID:19291539|REF_RGD_ID:2314320 8861401 Cst3 cystatin C gene DOID:5773 oral submucous fibrosis ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 8861401 Cst3 cystatin C gene DOID:6000 congestive heart failure susceptibility ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19539088|REF_RGD_ID:2314311 8861401 Cst3 cystatin C gene DOID:630 genetic disease ISO RGD:736914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861401 Cst3 cystatin C gene DOID:9000046 Poisoning ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22525860 8861401 Cst3 cystatin C gene DOID:9000965 Neoplasm Metastasis ISO RGD:736914 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:12589965|REF_RGD_ID:5686394 8861401 Cst3 cystatin C gene DOID:9001542 Albuminuria ISO RGD:736914 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) PMID:19596469|REF_RGD_ID:2314309 8861401 Cst3 cystatin C gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736914 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:increased expression:serum (human) PMID:19741512|REF_RGD_ID:2314308 8861401 Cst3 cystatin C gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:10415 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 8861401 Cst3 cystatin C gene DOID:9002165 Diabetic Nephropathies ISO RGD:2432 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:18946178|REF_RGD_ID:2314297 8861401 Cst3 cystatin C gene DOID:9002165 Diabetic Nephropathies ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19132849|REF_RGD_ID:2314328 8861401 Cst3 cystatin C gene DOID:9002801 Recurrence ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 8861401 Cst3 cystatin C gene DOID:9004492 Familial Amyloidosis ISO RGD:736914 D RGD:9068941 20200609 RGD protein:missense mutation:cds:p.L68Q (human) PMID:3517880|REF_RGD_ID:2314354 8861401 Cst3 cystatin C gene DOID:9006646 Metabolic Syndrome ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19887833|REF_RGD_ID:2314295 8861401 Cst3 cystatin C gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8861401 Cst3 cystatin C gene DOID:9007692 Insulin Resistance ISO RGD:736914 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) PMID:19765773|REF_RGD_ID:2314305 8861401 Cst3 cystatin C gene DOID:9007980 Sleep Deprivation ISO RGD:2432 D RGD:9068941 20200609 RGD PMID:17027151|REF_RGD_ID:2306498 8861401 Cst3 cystatin C gene DOID:9119 acute myeloid leukemia ISO RGD:736914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8861401 Cst3 cystatin C gene DOID:9352 type 2 diabetes mellitus ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19887833|REF_RGD_ID:2314295 8861401 Cst3 cystatin C gene DOID:9970 obesity ISO RGD:2432 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:18946178|REF_RGD_ID:2314297 8861401 Cst3 cystatin C gene DOID:9970 obesity ISO RGD:736914 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:18374694|REF_RGD_ID:2314346 8861419 Fcrl6 Fc receptor like 6 gene DOID:0080600 COVID-19 ISO RGD:1606397 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8861419 Fcrl6 Fc receptor like 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8861419 Fcrl6 Fc receptor like 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1606397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8861419 Fcrl6 Fc receptor like 6 gene DOID:630 genetic disease ISO RGD:1606397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861419 Fcrl6 Fc receptor like 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8861434 Wdr86 WD repeat domain 86 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1604947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8861434 Wdr86 WD repeat domain 86 gene DOID:2843 long QT syndrome ISO RGD:1604947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8861434 Wdr86 WD repeat domain 86 gene DOID:630 genetic disease ISO RGD:1604947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861449 Tyw5 tRNA-yW synthesizing protein 5 gene DOID:630 genetic disease ISO RGD:1604998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861449 Tyw5 tRNA-yW synthesizing protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8861464 Dhx37 DEAH-box helicase 37 gene DOID:1059 intellectual disability ISO RGD:1315679 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:26539891|PMID:28492532|PMID:31256877 8861464 Dhx37 DEAH-box helicase 37 gene DOID:11975 coloboma of optic nerve ISO RGD:1315679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve PMID:31256877 8861464 Dhx37 DEAH-box helicase 37 gene DOID:1826 epilepsy ISO RGD:1315679 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532|PMID:31256877|PMID:35134971|PMID:37240737 8861464 Dhx37 DEAH-box helicase 37 gene DOID:630 genetic disease ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8861464 Dhx37 DEAH-box helicase 37 gene DOID:9002794 NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES ISO RGD:1315679 D RGD:7240710 20200226 OMIM 8861464 Dhx37 DEAH-box helicase 37 gene DOID:9002794 NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES ISO RGD:1315679 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: DHX37-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies PMID:25741868|PMID:26539891|PMID:28492532|PMID:31256877|PMID:31287541 8861464 Dhx37 DEAH-box helicase 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:26539891|PMID:28492532|PMID:31256877 8861464 Dhx37 DEAH-box helicase 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315679 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:26539891|PMID:28492532|PMID:31256877|PMID:35134971|PMID:37240737 8861464 Dhx37 DEAH-box helicase 37 gene DOID:9008502 Anorchia ISO RGD:1315679 D RGD:7240710 20200429 OMIM 8861464 Dhx37 DEAH-box helicase 37 gene DOID:9008502 Anorchia ISO RGD:1315679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital absence of testes | ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC PMID:25741868|PMID:26539891|PMID:28492532|PMID:31287541|PMID:31337883 8861500 Rdh14 retinol dehydrogenase 14 gene DOID:1059 intellectual disability ISO RGD:1320191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8861500 Rdh14 retinol dehydrogenase 14 gene DOID:630 genetic disease ISO RGD:1320191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:1352344 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:23805033|PMID:24033266|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218|PMID:36909829 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0050817 Stargardt disease ISO RGD:1352344 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: STGD PMID:15161866|PMID:15223812|PMID:15657609|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25616768|PMID:25741868|PMID:26106334|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:32869108 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0050817 Stargardt disease ISO RGD:1352344 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: STGD PMID:15161866|PMID:15223812|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25474149|PMID:25741868|PMID:26106334|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:32869108 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0050817 Stargardt disease ISO RGD:1352344 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease PMID:15161866|PMID:15223812|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25474149|PMID:25741868|PMID:26106334|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:31544997|PMID:32869108|PMID:32913385|PMID:35672425 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0110008 achromatopsia 3 ISO RGD:1352344 D RGD:7240710 20180130 OMIM 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:0110008 achromatopsia 3 ISO RGD:1352344 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopia PMID:10888875|PMID:10958649|PMID:12187429|PMID:12357335|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15223812|PMID:15459792|PMID:15657609|PMID:15712225|PMID:1572225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:20574029|PMID:22264887|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24148654|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25525159|PMID:25558076|PMID:25558176|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:26992781|PMID:27479814|PMID:27874104|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28341476|PMID:28418496|PMID:28492532|PMID:28795510|PMID:29053603|PMID:29186038|PMID:29769798|PMID:30337596|PMID:30418171|PMID:30718709|PMID:31544997|PMID:32581362|PMID:32860008|PMID:32869108|PMID:32913385|PMID:33546218|PMID:34703197|PMID:35119454|PMID:35672425|PMID:36909829|PMID:9536098 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:11124331|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28166811|PMID:28224992|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:20301591|PMID:21270786|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:25974703|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1352344 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218|PMID:36909829 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:1242 globe disease ISO RGD:1352344 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Globe disease PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218|PMID:36909829 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:13399 color blindness ISO RGD:1352344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30418171 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:13399 color blindness susceptibility ISO RGD:1352344 D RGD:9068941 20200609 RGD DNA:mutations PMID:10958649|REF_RGD_ID:1600870 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:13911 achromatopsia ISO RGD:1352344 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:10888875|PMID:10958649|PMID:12187429|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:1572225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:22264887|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24148654|PMID:24504161|PMID:25205868|PMID:25326637|PMID:25474149|PMID:25525159|PMID:25558176|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:26992781|PMID:27479814|PMID:27874104|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:29186038|PMID:29769798|PMID:30418171|PMID:30718709|PMID:31456290|PMID:31544997|PMID:32860008|PMID:32869108|PMID:32913385|PMID:33546218|PMID:34703197|PMID:35119454|PMID:35672425|PMID:36909829|PMID:9536098 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:14791 Leber congenital amaurosis ISO RGD:1352344 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:20574029|PMID:23805033|PMID:24033266|PMID:25558176|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28492532|PMID:28795510|PMID:29769798|PMID:30718709|PMID:32860008|PMID:33546218|PMID:36909829|PMID:9536098 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:4448 macular degeneration ISO RGD:1352344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:17576681|PMID:28041643|PMID:28492532|PMID:28795510|PMID:9536098 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:630 genetic disease ISO RGD:1352344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15657609|PMID:25741868|PMID:26106334|PMID:28492532 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:8501 fundus dystrophy ISO RGD:1352344 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:20574029|PMID:23805033|PMID:24033266|PMID:24148654|PMID:25205868|PMID:25525159|PMID:25558176|PMID:25741868|PMID:25770143|PMID:27479814|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28795510|PMID:29186038|PMID:29769798|PMID:30718709|PMID:32860008|PMID:33546218|PMID:35119454|PMID:36909829|PMID:9536098 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9003656 Achromatopsia 1 ISO RGD:1352344 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Rod monochromatism PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25474149|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:31544997|PMID:32860008|PMID:32869108|PMID:32913385|PMID:33546218|PMID:35672425|PMID:36909829 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9003656 Achromatopsia 1 treatment ISO RGD:1352344 D RGD:9068941 20200609 RGD PMID:21576125|REF_RGD_ID:9068450 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1352344 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15223812|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23776498|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25474149|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:31544997|PMID:32860008|PMID:32869108|PMID:32913385|PMID:33546218|PMID:35672425|PMID:36909829 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9008296 Eye Abnormalities ISO RGD:1352344 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28795510|PMID:29053603|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218|PMID:36909829 8861506 Cngb3 cyclic nucleotide gated channel subunit beta 3 gene DOID:9650 pathologic nystagmus ISO RGD:1352344 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:10888875|PMID:10958649|PMID:15657609|PMID:15712225|PMID:17652762|PMID:20079539|PMID:25558176|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28795510|PMID:29769798 8861530 Htra4 HtrA serine peptidase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1350689 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8861530 Htra4 HtrA serine peptidase 4 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1350689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8861530 Htra4 HtrA serine peptidase 4 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1350689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8861530 Htra4 HtrA serine peptidase 4 gene DOID:607 paraplegia ISO RGD:1350689 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8861530 Htra4 HtrA serine peptidase 4 gene DOID:630 genetic disease ISO RGD:1350689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0060581 Noonan syndrome 3 ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:25741868|PMID:28492532 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:34008892 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1317750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080690 RASopathy ISO RGD:1317750 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28166811|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892|PMID:9536098 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080690 RASopathy ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28166811|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892|PMID:9536098 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080690 RASopathy ISO RGD:1317750 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:17576681|PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22670144|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:27763634|PMID:28074886|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:33673806|PMID:34008892|PMID:9536098 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080691 Noonan syndrome-like disorder with loose anagen hair ISO RGD:1317750 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22670144|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:34008892 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ISO RGD:1317750 D RGD:7240710 20180130 OMIM 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 ISO RGD:1317750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22670144|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28074886|PMID:28301460|PMID:28492532|PMID:29907801|PMID:30348783|PMID:33673806|PMID:34008892 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1317750 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: PKD3 PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:34008892 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1317750 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:34008892 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:1059 intellectual disability ISO RGD:1317750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:3310 atopic dermatitis ISO RGD:1317750 D RGD:9068941 20230112 RGD associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human) PMID:20882035|REF_RGD_ID:11071178 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:3490 Noonan syndrome ISO RGD:1317750 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:29907801|PMID:30348783|PMID:30417923|PMID:33673806|PMID:34008892 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:421 hair disease ISO RGD:1317750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19684605 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:630 genetic disease ISO RGD:1317750 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22670144|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25137548|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:29907801|PMID:30348783|PMID:34008892 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:9001510 Funnel Chest ISO RGD:1317750 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:18414213|PMID:19684605|PMID:20882035|PMID:21396583|PMID:21548061|PMID:21784453|PMID:22253195|PMID:22419608|PMID:22528146|PMID:22606262|PMID:22995099|PMID:23756559|PMID:23786871|PMID:23885229|PMID:23918763|PMID:24033266|PMID:24458587|PMID:24458596|PMID:25123707|PMID:25326635|PMID:25326637|PMID:25331583|PMID:25563136|PMID:25741868|PMID:26467025|PMID:26519477|PMID:27466182|PMID:28492532|PMID:30348783|PMID:34008892 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1308146 D RGD:9068941 20230112 RGD mRNA:decreased expression:brain: PMID:34368865|REF_RGD_ID:155804268 8861544 Shoc2 SHOC2 leucine rich repeat scaffold protein gene DOID:9008386 Hydrops Fetalis ISO RGD:1317750 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:22670144|PMID:25137548|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30348783 8861568 Mrpl32 mitochondrial ribosomal protein L32 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8861568 Mrpl32 mitochondrial ribosomal protein L32 gene DOID:630 genetic disease ISO RGD:1321503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861586 Cdkl3 cyclin dependent kinase like 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731372 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8861586 Cdkl3 cyclin dependent kinase like 3 gene DOID:630 genetic disease ISO RGD:731372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861586 Cdkl3 cyclin dependent kinase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8861586 Cdkl3 cyclin dependent kinase like 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731372 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8861613 Fut9 fucosyltransferase 9 gene DOID:630 genetic disease ISO RGD:732098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861628 Sbk1 SH3 domain binding kinase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344532 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8861628 Sbk1 SH3 domain binding kinase 1 gene DOID:630 genetic disease ISO RGD:1344532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861639 Ccnb3 cyclin B3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8861639 Ccnb3 cyclin B3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8861639 Ccnb3 cyclin B3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8861639 Ccnb3 cyclin B3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8861639 Ccnb3 cyclin B3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8861639 Ccnb3 cyclin B3 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1352366 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 8861639 Ccnb3 cyclin B3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1352366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8861639 Ccnb3 cyclin B3 gene DOID:12849 autistic disorder ISO RGD:1352366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8861639 Ccnb3 cyclin B3 gene DOID:3347 osteosarcoma ISO RGD:1352366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387997 8861639 Ccnb3 cyclin B3 gene DOID:630 genetic disease ISO RGD:1352366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861639 Ccnb3 cyclin B3 gene DOID:9007479 Habitual Abortions ISO RGD:1352366 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 1 8861657 Dock11 dedicator of cytokinesis 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8861657 Dock11 dedicator of cytokinesis 11 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1348616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8861657 Dock11 dedicator of cytokinesis 11 gene DOID:12849 autistic disorder ISO RGD:1348616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8861657 Dock11 dedicator of cytokinesis 11 gene DOID:630 genetic disease ISO RGD:1348616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861657 Dock11 dedicator of cytokinesis 11 gene DOID:9006328 AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED ISO RGD:1348616 D RGD:7240710 20230809 OMIM 8861657 Dock11 dedicator of cytokinesis 11 gene DOID:9006328 AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED ISO RGD:1348616 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: DOCK11 deficiency | ClinVar Annotator: match by term: Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia PMID:25741868|PMID:36952639|PMID:37342957 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:10459 common cold ISO RGD:736460 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:11865407|REF_RGD_ID:4890421 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:1612 breast cancer ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:polymorphism:g.-4800A>G (human) PMID:18843019|REF_RGD_ID:2313902 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:1936 atherosclerosis ISO RGD:736460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16698924 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:1969 cerebral palsy ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:SNP(human) PMID:18977990|REF_RGD_ID:2313892 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2349 arteriosclerosis ISO RGD:736460 D RGD:9068941 20200609 RGD mRNA:increased expression:atherosclerotic lesions (human) PMID:18258817|REF_RGD_ID:2313905 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2349 arteriosclerosis ISO RGD:736461 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta, adipose tissue (mouse) PMID:17379835|REF_RGD_ID:2313913 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:repeat:promoter:-169(A)21 (human) PMID:10527888|REF_RGD_ID:5147466 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736460 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, leukocyte PMID:9642160|REF_RGD_ID:5147467 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736461 D RGD:9068941 20200609 RGD PMID:8879219|REF_RGD_ID:5147462 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma ISO RGD:736461 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11035107|REF_RGD_ID:4890422 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma no_association ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:20128419|REF_RGD_ID:4890407 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma no_association ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human) PMID:15784112|REF_RGD_ID:5147464 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma no_association ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human) PMID:12911785|REF_RGD_ID:5147465 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma susceptibility ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:SNP: :rs10507391 (human) PMID:20067482|REF_RGD_ID:4890405 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2841 asthma susceptibility ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:18547289|REF_RGD_ID:4890409 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:2921 glomerulonephritis onset ISO RGD:2097 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, endothelial cell, cytoplasm (rat) PMID:14733414|REF_RGD_ID:2313931 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:3393 coronary artery disease ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19596330|REF_RGD_ID:2313883 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:3454 brain infarction ISO RGD:736460 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; DNA:polymorphism:g.162A>C rs4769055 (human) PMID:18506375|REF_RGD_ID:2311309 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:3526 cerebral infarction susceptibility ISO RGD:736460 D RGD:7240710 20230505 OMIM 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:3602 toxic encephalopathy ISO RGD:736460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:409 liver disease ISO RGD:736460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:557 kidney disease ISO RGD:736460 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:g.8733T>C (rs3803278) (human) PMID:19288030|REF_RGD_ID:2313888 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:576 proteinuria ISO RGD:736460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12649539 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:5844 myocardial infarction ISO RGD:736460 D RGD:9068941 20200609 RGD PMID:14770184|REF_RGD_ID:1578317 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:5844 myocardial infarction no_association ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19046748|REF_RGD_ID:2313891 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:630 genetic disease ISO RGD:736460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:6432 pulmonary hypertension ISO RGD:2097 D RGD:9068941 20200609 RGD PMID:8647941|REF_RGD_ID:734558 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:6432 pulmonary hypertension ISO RGD:736460 D RGD:9068941 20200609 RGD protein:increased expression:artery PMID:9445303|REF_RGD_ID:1626154 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:769 neuroblastoma ISO RGD:736460 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neuroblastoma (human) PMID:18591367|REF_RGD_ID:2313903 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736460 D RGD:9068941 20200609 RGD protein:increased expression:nasal turbinate PMID:19364335|REF_RGD_ID:5147461 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2097 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland tumor (rat) PMID:18959458|REF_RGD_ID:2313895 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9005372 Inflammation ISO RGD:2097 D RGD:9068941 20200609 RGD PMID:19749079|REF_RGD_ID:5147469 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9005372 Inflammation ISO RGD:736461 D RGD:9068941 20200609 RGD PMID:19749079|REF_RGD_ID:5147469 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9007096 Stroke ISO RGD:2097 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte (rat) PMID:17922411|REF_RGD_ID:2313907 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9007096 Stroke ISO RGD:736460 D RGD:9068941 20200609 RGD DNA:polymorphism: :2354T>A (human) PMID:19373490|REF_RGD_ID:2313886 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9007480 Hyperoxia ISO RGD:2097 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12490039|REF_RGD_ID:4890420 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9970 obesity ISO RGD:736460 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:19596146|REF_RGD_ID:2313884 8861739 Alox5ap arachidonate 5-lipoxygenase activating protein gene DOID:9970 obesity ISO RGD:736461 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue (mouse) PMID:17379835|REF_RGD_ID:2313913 8861748 Metrnl meteorin like, glial cell differentiation regulator gene DOID:10603 glucose intolerance ISO RGD:1348183 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30213948 8861748 Metrnl meteorin like, glial cell differentiation regulator gene DOID:630 genetic disease ISO RGD:1348183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861748 Metrnl meteorin like, glial cell differentiation regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8861748 Metrnl meteorin like, glial cell differentiation regulator gene DOID:9004657 Weight Gain ISO RGD:1348183 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30213948 8861748 Metrnl meteorin like, glial cell differentiation regulator gene DOID:9007692 Insulin Resistance ISO RGD:1348183 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30213948 8861761 Iqcn IQ motif containing N gene DOID:630 genetic disease ISO RGD:1353790 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861761 Iqcn IQ motif containing N gene DOID:9006326 Spermatogenic Failure 78 ISO RGD:1353790 D RGD:7240710 20221221 OMIM 8861761 Iqcn IQ motif containing N gene DOID:9006326 Spermatogenic Failure 78 ISO RGD:1353790 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 78 PMID:36321563 8861761 Iqcn IQ motif containing N gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1353790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8861832 Rgs19 regulator of G protein signaling 19 gene DOID:630 genetic disease ISO RGD:1353904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861842 Chrm5 cholinergic receptor muscarinic 5 gene DOID:0060001 withdrawal disorder ISO RGD:1350007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12154229 8861842 Chrm5 cholinergic receptor muscarinic 5 gene DOID:2717 Bloom syndrome ISO RGD:1350007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8861842 Chrm5 cholinergic receptor muscarinic 5 gene DOID:630 genetic disease ISO RGD:1350007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861842 Chrm5 cholinergic receptor muscarinic 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1350007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13130510 8861842 Chrm5 cholinergic receptor muscarinic 5 gene DOID:9256 colorectal cancer ISO RGD:1350007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8861847 C8b complement C8 beta chain gene DOID:0060299 complement component 6 deficiency ISO RGD:1352674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Complement component 6 deficiency PMID:14767900|PMID:19434484|PMID:24033266|PMID:25525159|PMID:25741868|PMID:27183977|PMID:28368462|PMID:28492532|PMID:30609409|PMID:31980526|PMID:7594510|PMID:8098723|PMID:8365729 8861847 C8b complement C8 beta chain gene DOID:0060302 type II complement component 8 deficiency ISO RGD:1352674 D RGD:7240710 20180130 OMIM 8861847 C8b complement C8 beta chain gene DOID:0060302 type II complement component 8 deficiency ISO RGD:1352674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: C8B-related condition | ClinVar Annotator: match by term: Type II complement component 8 deficiency PMID:14767900|PMID:19434484|PMID:24033266|PMID:25525159|PMID:25741868|PMID:27183977|PMID:28368462|PMID:28492532|PMID:30609409|PMID:31440263|PMID:31980526|PMID:7594510|PMID:8098723|PMID:8365729 8861847 C8b complement C8 beta chain gene DOID:5844 myocardial infarction ISO RGD:2239 D RGD:9068941 20200609 RGD PMID:7515561|REF_RGD_ID:1600501 8861847 C8b complement C8 beta chain gene DOID:612 primary immunodeficiency disease ISO RGD:1352674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8098723 8861847 C8b complement C8 beta chain gene DOID:630 genetic disease ISO RGD:1352674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8861847 C8b complement C8 beta chain gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7980680 8861847 C8b complement C8 beta chain gene DOID:9008538 Neisseriaceae Infections ISO RGD:1352674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8098723 8861847 C8b complement C8 beta chain gene DOID:9471 meningitis ISO RGD:1352674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8098723 8861867 Sema4c semaphorin 4C gene DOID:0080600 COVID-19 ISO RGD:1354487 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8861867 Sema4c semaphorin 4C gene DOID:1059 intellectual disability ISO RGD:1354487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8861867 Sema4c semaphorin 4C gene DOID:5419 schizophrenia ISO RGD:1354487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8861867 Sema4c semaphorin 4C gene DOID:630 genetic disease ISO RGD:1354487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861892 Rbm5 RNA binding motif protein 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8861892 Rbm5 RNA binding motif protein 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8861892 Rbm5 RNA binding motif protein 5 gene DOID:630 genetic disease ISO RGD:1312863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861892 Rbm5 RNA binding motif protein 5 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1312863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8861892 Rbm5 RNA binding motif protein 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312863 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8861930 Phb1 prohibitin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8861930 Phb1 prohibitin 1 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:736948 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8861930 Phb1 prohibitin 1 gene DOID:11054 urinary bladder cancer ISO RGD:3322 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:8062216|REF_RGD_ID:2292407 8861930 Phb1 prohibitin 1 gene DOID:1612 breast cancer ISO RGD:736948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:11377649|PMID:8809404 8861930 Phb1 prohibitin 1 gene DOID:1612 breast cancer no_association ISO RGD:736948 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1703C>T PMID:14652295|REF_RGD_ID:2292402 8861930 Phb1 prohibitin 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736948 D RGD:7240710 20230505 OMIM 8861930 Phb1 prohibitin 1 gene DOID:2394 ovarian cancer ISO RGD:736948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8861930 Phb1 prohibitin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:17465217|REF_RGD_ID:2292396 8861930 Phb1 prohibitin 1 gene DOID:299 adenocarcinoma ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8861930 Phb1 prohibitin 1 gene DOID:305 carcinoma ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8861930 Phb1 prohibitin 1 gene DOID:5419 schizophrenia ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18504422 8861930 Phb1 prohibitin 1 gene DOID:630 genetic disease ISO RGD:736948 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861930 Phb1 prohibitin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8861930 Phb1 prohibitin 1 gene DOID:8029 sporadic breast cancer ISO RGD:736948 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations: :multiple PMID:1540973|REF_RGD_ID:2292408 8861930 Phb1 prohibitin 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736948 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:18384941|REF_RGD_ID:2292382 8861930 Phb1 prohibitin 1 gene DOID:8646 substance-induced psychosis ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18504422 8861930 Phb1 prohibitin 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16426920|REF_RGD_ID:2292398 8861930 Phb1 prohibitin 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8861930 Phb1 prohibitin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:21364753 8861930 Phb1 prohibitin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8861930 Phb1 prohibitin 1 gene DOID:9000784 Fibrosis ISO RGD:736948 D RGD:9068941 20200609 RGD associated with Glomerulonephritis;protein:decreased expression:kidney, epithelial cell PMID:17043753|REF_RGD_ID:2292410 8861930 Phb1 prohibitin 1 gene DOID:9000918 Disease Progression ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8861930 Phb1 prohibitin 1 gene DOID:9000998 Brain Injuries ISO RGD:3322 D RGD:9068941 20200609 RGD protein:increased oxidation:cerebral cortex PMID:17518533|REF_RGD_ID:2292409 8861930 Phb1 prohibitin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736948 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:18384941|REF_RGD_ID:2292382 8861930 Phb1 prohibitin 1 gene DOID:9002762 Ovarian Neoplasms no_association ISO RGD:736948 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1703C>T PMID:12821355|REF_RGD_ID:2292403 8861930 Phb1 prohibitin 1 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16426920|REF_RGD_ID:2292398 8861930 Phb1 prohibitin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3322 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mammary gland PMID:12376462|REF_RGD_ID:2292404 8861930 Phb1 prohibitin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8861930 Phb1 prohibitin 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736948 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10421803|REF_RGD_ID:2292406 8861930 Phb1 prohibitin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8861943 Mtrf1l mitochondrial translation release factor 1 like gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1316759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 8861943 Mtrf1l mitochondrial translation release factor 1 like gene DOID:630 genetic disease ISO RGD:1316759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861954 Fignl1 fidgetin like 1 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1316113 D RGD:9068941 20240229 RGD DNA:SNP,haplotype:: (rs10230343) (human) PMID:16740595|REF_RGD_ID:401976474 8861954 Fignl1 fidgetin like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8861954 Fignl1 fidgetin like 1 gene DOID:630 genetic disease ISO RGD:1316113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861954 Fignl1 fidgetin like 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1316113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 8861967 Amn1 antagonist of mitotic exit network 1 homolog gene DOID:630 genetic disease ISO RGD:1606942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861992 Crot carnitine O-octanoyltransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8861992 Crot carnitine O-octanoyltransferase gene DOID:630 genetic disease ISO RGD:732197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8861992 Crot carnitine O-octanoyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8861992 Crot carnitine O-octanoyltransferase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:70908 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, cardiac muscle cell PMID:14618266|REF_RGD_ID:1599987 8862020 Fgd6 FYVE, RhoGEF and PH domain containing 6 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1319292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27089177 8862020 Fgd6 FYVE, RhoGEF and PH domain containing 6 gene DOID:1790 malignant mesothelioma ISO RGD:1319292 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8862020 Fgd6 FYVE, RhoGEF and PH domain containing 6 gene DOID:630 genetic disease ISO RGD:1319292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862045 Adck5 aarF domain containing kinase 5 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1313570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8862045 Adck5 aarF domain containing kinase 5 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1313570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8862045 Adck5 aarF domain containing kinase 5 gene DOID:4621 holoprosencephaly ISO RGD:1313570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8862045 Adck5 aarF domain containing kinase 5 gene DOID:630 genetic disease ISO RGD:1313570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862072 Nkap NFKB activating protein gene DOID:0050437 Danon disease ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 8862072 Nkap NFKB activating protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8862072 Nkap NFKB activating protein gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1606506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8862072 Nkap NFKB activating protein gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1606506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8862072 Nkap NFKB activating protein gene DOID:12849 autistic disorder ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8862072 Nkap NFKB activating protein gene DOID:630 genetic disease ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:31587868 8862072 Nkap NFKB activating protein gene DOID:9001354 DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY ISO RGD:1606506 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy PMID:25741868 8862072 Nkap NFKB activating protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606506 D RGD:9068941 20221110 RGD DNA:missense mutations:exon 8-9:multiple (human) PMID:31587868|REF_RGD_ID:155641252 8862072 Nkap NFKB activating protein gene DOID:9007858 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE ISO RGD:1606506 D RGD:7240710 20200722 OMIM 8862072 Nkap NFKB activating protein gene DOID:9007858 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type PMID:25741868|PMID:26358559|PMID:31587868 8862072 Nkap NFKB activating protein gene DOID:9008086 Developmental Disabilities ISO RGD:1606506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8862090 Harbi1 harbinger transposase derived 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1601808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8862090 Harbi1 harbinger transposase derived 1 gene DOID:1059 intellectual disability ISO RGD:1601808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8862090 Harbi1 harbinger transposase derived 1 gene DOID:630 genetic disease ISO RGD:1601808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862090 Harbi1 harbinger transposase derived 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1601808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8862100 Zc3h14 zinc finger CCCH-type containing 14 gene DOID:0081217 autosomal recessive intellectual developmental disorder 56 ISO RGD:732811 D RGD:7240710 20190315 OMIM 8862100 Zc3h14 zinc finger CCCH-type containing 14 gene DOID:0081217 autosomal recessive intellectual developmental disorder 56 ISO RGD:732811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56 PMID:21734151|PMID:25741868|PMID:28492532 8862100 Zc3h14 zinc finger CCCH-type containing 14 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:732811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 8862100 Zc3h14 zinc finger CCCH-type containing 14 gene DOID:1059 intellectual disability ISO RGD:732811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8862100 Zc3h14 zinc finger CCCH-type containing 14 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8862100 Zc3h14 zinc finger CCCH-type containing 14 gene DOID:630 genetic disease ISO RGD:732811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8862135 Fxn frataxin gene DOID:0111218 Friedreich ataxia 1 ISO RGD:1604403 D RGD:7240710 20180130 OMIM 8862135 Fxn frataxin gene DOID:0111218 Friedreich ataxia 1 ISO RGD:1604403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Friedreich ataxia 1 PMID:25741868|PMID:26467025|PMID:34906502 8862135 Fxn frataxin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1604403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15936968|PMID:25741868 8862135 Fxn frataxin gene DOID:12705 Friedreich ataxia ISO RGD:1604403 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Friedreich ataxia PMID:10543403|PMID:10732799|PMID:11020385|PMID:11030757|PMID:11843702|PMID:12019217|PMID:17331979|PMID:17703324|PMID:18537827|PMID:19494730|PMID:19629184|PMID:19775837|PMID:20162437|PMID:21298097|PMID:25566998|PMID:25741868|PMID:26301374|PMID:26339677|PMID:26467025|PMID:26704351|PMID:28812047|PMID:31980526|PMID:34747814|PMID:8596916|PMID:9090376|PMID:9150176|PMID:9700204|PMID:9737785|PMID:9989622 8862135 Fxn frataxin gene DOID:12705 Friedreich ataxia onset ISO RGD:1604403 D RGD:9068941 20230817 RGD DNA:repeat,deletion:intron,exon:GAA(human) PMID:22409940|REF_RGD_ID:401793711 8862135 Fxn frataxin gene DOID:12705 Friedreich ataxia treatment ISO RGD:1604403 D RGD:9068941 20230817 RGD PMID:22113996|PMID:32646255|PMID:37166361|REF_RGD_ID:401793707|REF_RGD_ID:401793708|REF_RGD_ID:401793713 8862135 Fxn frataxin gene DOID:3068 glioblastoma ISO RGD:1604403 D RGD:9068941 20230817 RGD PMID:21863062|REF_RGD_ID:401793715 8862135 Fxn frataxin gene DOID:630 genetic disease ISO RGD:1604403 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15936968|PMID:19852779|PMID:25741868|PMID:26467025|PMID:28492532 8862135 Fxn frataxin gene DOID:9000777 Mitochondrial Cardiomyopathy treatment ISO RGD:1604403 D RGD:9068941 20230817 RGD associated with Friedreich ataxia PMID:24705334|REF_RGD_ID:401793714 8862135 Fxn frataxin gene DOID:9001725 Retina Reperfusion Injury ISO RGD:1551716 D RGD:9068941 20230812 RGD PMID:27537261|REF_RGD_ID:401793704 8862135 Fxn frataxin gene DOID:9001725 Retina Reperfusion Injury ameliorates ISO RGD:1604403 D RGD:9068941 20230812 RGD PMID:27537261|REF_RGD_ID:401793704 8862135 Fxn frataxin gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1604403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26954031 8862135 Fxn frataxin gene DOID:9007692 Insulin Resistance ISO RGD:1604403 D RGD:9068941 20200609 RGD DNA:repeats:intron:GAA (human) PMID:10969848|REF_RGD_ID:2307049 8862135 Fxn frataxin gene DOID:9351 diabetes mellitus ISO RGD:1551716 D RGD:9068941 20200609 RGD DNA:deletion:exon (mouse) PMID:12925693|REF_RGD_ID:2307048 8862135 Fxn frataxin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604403 D RGD:9068941 20200609 RGD DNA:repeats:intron:GAA (human) PMID:9588463|REF_RGD_ID:2307050 8862135 Fxn frataxin gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1604403 D RGD:9068941 20200609 RGD DNA:repeats:intron:GAA (human) PMID:10102715|REF_RGD_ID:2307051 8862135 Fxn frataxin gene DOID:9970 obesity ISO RGD:1551716 D RGD:9068941 20200609 RGD DNA:deletion:exon (mouse) PMID:17404227|REF_RGD_ID:2307045 8862144 Nell2 neural EGFL like 2 gene DOID:630 genetic disease ISO RGD:732316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862173 Mmaa metabolism of cobalamin associated A gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1312825 D RGD:7240710 20180130 OMIM 8862173 Mmaa metabolism of cobalamin associated A gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1312825 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:12438653|PMID:15308131|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16247646|PMID:17576681|PMID:17728257|PMID:17957493|PMID:20549364|PMID:21048060|PMID:21114891|PMID:21545677|PMID:22614770|PMID:22661206|PMID:23026888|PMID:23711287|PMID:23716945|PMID:24033266|PMID:24059531|PMID:24095221|PMID:25525159|PMID:25636100|PMID:25741868|PMID:25748407|PMID:25959030|PMID:26270765|PMID:26370686|PMID:27591164|PMID:27858373|PMID:28492532|PMID:28497574|PMID:29996803|PMID:31497484|PMID:31622506|PMID:32034731|PMID:32754920|PMID:33029243|PMID:33453710|PMID:33726816|PMID:34915869|PMID:35618652|PMID:9536098 8862173 Mmaa metabolism of cobalamin associated A gene DOID:14749 methylmalonic acidemia ISO RGD:1312825 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:12438653|PMID:15308131|PMID:15523652|PMID:15781192|PMID:16247646|PMID:17728257|PMID:17957493|PMID:20549364|PMID:21048060|PMID:21114891|PMID:21545677|PMID:22614770|PMID:22661206|PMID:23026888|PMID:23711287|PMID:24033266|PMID:24059531|PMID:24095221|PMID:25525159|PMID:25636100|PMID:25741868|PMID:25748407|PMID:25959030|PMID:26270765|PMID:26370686|PMID:27591164|PMID:28492532|PMID:28497574|PMID:32754920|PMID:33029243|PMID:33726816|PMID:35618652 8862173 Mmaa metabolism of cobalamin associated A gene DOID:630 genetic disease ISO RGD:1312825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8862173 Mmaa metabolism of cobalamin associated A gene DOID:83 cataract ISO RGD:1312825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 8862173 Mmaa metabolism of cobalamin associated A gene DOID:9005835 Congenital Abnormalities ISO RGD:1312825 D RGD:9068941 20200609 RGD methylmalonic aciduria, OMIM:251100 PMID:15523652|REF_RGD_ID:1600803 8862197 Gpatch2 G-patch domain containing 2 gene DOID:0050439 Usher syndrome ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 8862197 Gpatch2 G-patch domain containing 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8862197 Gpatch2 G-patch domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8862197 Gpatch2 G-patch domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8862197 Gpatch2 G-patch domain containing 2 gene DOID:630 genetic disease ISO RGD:1318884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862197 Gpatch2 G-patch domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8862217 Usp25 ubiquitin specific peptidase 25 gene DOID:10652 Alzheimer's disease ISO RGD:1319103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8862217 Usp25 ubiquitin specific peptidase 25 gene DOID:630 genetic disease ISO RGD:1319103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862217 Usp25 ubiquitin specific peptidase 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:0070526 PLACK syndrome ISO RGD:732566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PMID:25683118|PMID:3527073 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:10763 hypertension ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13678427 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:13129 severe pre-eclampsia severity ISO RGD:732566 D RGD:9068941 20230525 RGD mRNA:increased expression:decidua basalis (human) PMID:24331737|REF_RGD_ID:329845529 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:13241 Behcet's disease ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291587 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:2843 long QT syndrome ISO RGD:732566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:732566 D RGD:9068941 20200609 RGD PMID:15741767|REF_RGD_ID:2315693 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:2893 cervix carcinoma ISO RGD:732566 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19202550|REF_RGD_ID:2315691 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:630 genetic disease ISO RGD:732566 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:7147 ankylosing spondylitis ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952073|PMID:20062062|PMID:21743469|PMID:23291587 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:8893 psoriasis ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187|PMID:20953190|PMID:23291587|PMID:24212883 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8862260 Erap1 endoplasmic reticulum aminopeptidase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8862293 Kcns2 potassium voltage-gated channel modifier subfamily S member 2 gene DOID:0111590 Cohen syndrome ISO RGD:1342899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8862293 Kcns2 potassium voltage-gated channel modifier subfamily S member 2 gene DOID:630 genetic disease ISO RGD:1342899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862298 F7 coagulation factor VII gene DOID:0080941 acquired angioedema disease_progression ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:9129025|REF_RGD_ID:11565081 8862298 F7 coagulation factor VII gene DOID:10763 hypertension ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:10450539|REF_RGD_ID:2312402 8862298 F7 coagulation factor VII gene DOID:10763 hypertension ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:8123879|REF_RGD_ID:2312412 8862298 F7 coagulation factor VII gene DOID:10763 hypertension ISO RGD:628678 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:812575|REF_RGD_ID:2312323 8862298 F7 coagulation factor VII gene DOID:11247 disseminated intravascular coagulation ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16159073 8862298 F7 coagulation factor VII gene DOID:1168 familial hyperlipidemia ISO RGD:628678 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:11776312|REF_RGD_ID:2312300 8862298 F7 coagulation factor VII gene DOID:12134 factor VIII deficiency ISO RGD:1345586 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hemophilia PMID:25741868 8862298 F7 coagulation factor VII gene DOID:1247 blood coagulation disease ISO RGD:1345586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:25741868|PMID:28492532|PMID:31064749|PMID:8844208 8862298 F7 coagulation factor VII gene DOID:1459 hypothyroidism ISO RGD:628678 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:989968|REF_RGD_ID:2312322 8862298 F7 coagulation factor VII gene DOID:14735 hereditary angioedema disease_progression ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:9129025|REF_RGD_ID:11565081 8862298 F7 coagulation factor VII gene DOID:1588 thrombocytopenia treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:19175492|REF_RGD_ID:11049531 8862298 F7 coagulation factor VII gene DOID:1612 breast cancer ISO RGD:1345586 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:19996301|REF_RGD_ID:11049547 8862298 F7 coagulation factor VII gene DOID:2213 hemorrhagic disease ISO RGD:1345586 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10862079|PMID:11931672|PMID:15456489|PMID:15735798|PMID:18282149|PMID:22180436|PMID:25582404|PMID:25741868|PMID:28492532|PMID:31064749|PMID:7919338|PMID:7981691 8862298 F7 coagulation factor VII gene DOID:2215 factor VII deficiency ISO RGD:1345586 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: Factor VII deficiency PMID:10554827|PMID:10739380|PMID:10862079|PMID:10959697|PMID:10984565|PMID:11091194|PMID:11110717|PMID:11129332|PMID:11139238|PMID:11225604|PMID:11260055|PMID:11313743|PMID:11529858|PMID:11931672|PMID:12181036|PMID:12472587|PMID:12632035|PMID:12903033|PMID:12935978|PMID:14717781|PMID:15142120|PMID:15456489|PMID:15735798|PMID:15741795|PMID:1634227|PMID:18180623|PMID:18282149|PMID:18669152|PMID:18976247|PMID:19751712|PMID:20040857|PMID:2070047|PMID:20735728|PMID:20958793|PMID:21206266|PMID:21287501|PMID:21902896|PMID:22180436|PMID:22327826|PMID:22873696|PMID:23358202|PMID:24033266|PMID:25582404|PMID:25741868|PMID:25828579|PMID:25863091|PMID:25952977|PMID:26105150|PMID:27227566|PMID:27848944|PMID:28447100|PMID:28492532|PMID:29318701|PMID:30208845|PMID:31064749|PMID:31273093|PMID:32333443|PMID:33587484|PMID:34355501|PMID:35349734|PMID:35867939|PMID:36572978|PMID:36760778|PMID:6812354|PMID:7919338|PMID:7974346|PMID:7981691|PMID:8242057|PMID:8244334|PMID:8364544|PMID:8652821|PMID:8883260|PMID:8940045|PMID:8978290|PMID:9414278|PMID:9576180|PMID:9716591 8862298 F7 coagulation factor VII gene DOID:2215 factor VII deficiency susceptibility ISO RGD:1345586 D RGD:7240710 20240320 OMIM 8862298 F7 coagulation factor VII gene DOID:2222 factor X deficiency ISO RGD:1345586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:10984565|PMID:12181036|PMID:25741868|PMID:34355501 8862298 F7 coagulation factor VII gene DOID:2235 prothrombin deficiency ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:2810399|REF_RGD_ID:2312318 8862298 F7 coagulation factor VII gene DOID:2349 arteriosclerosis severity ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:9569183|REF_RGD_ID:2312403 8862298 F7 coagulation factor VII gene DOID:2394 ovarian cancer ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased expression:ovarian surface epithelium (human) PMID:19904262|REF_RGD_ID:11049516 8862298 F7 coagulation factor VII gene DOID:2741 bilirubin metabolic disorder ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:14724430|REF_RGD_ID:1304286 8862298 F7 coagulation factor VII gene DOID:2841 asthma treatment ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:24523826|REF_RGD_ID:11040539 8862298 F7 coagulation factor VII gene DOID:2913 acute pancreatitis treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:17506000|REF_RGD_ID:11049543 8862298 F7 coagulation factor VII gene DOID:3393 coronary artery disease ISO RGD:1345586 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:R353Q (human) PMID:11334615|REF_RGD_ID:2312397 8862298 F7 coagulation factor VII gene DOID:3393 coronary artery disease ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:10599031|REF_RGD_ID:2312400 8862298 F7 coagulation factor VII gene DOID:3393 coronary artery disease ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:8522401|REF_RGD_ID:2312408 8862298 F7 coagulation factor VII gene DOID:3526 cerebral infarction ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:plasma (human) PMID:14733777|REF_RGD_ID:11049518 8862298 F7 coagulation factor VII gene DOID:3526 cerebral infarction treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:21998055|REF_RGD_ID:11049520 8862298 F7 coagulation factor VII gene DOID:4195 hyperglycemia ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) PMID:3240844|REF_RGD_ID:2312413 8862298 F7 coagulation factor VII gene DOID:557 kidney disease ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:15608477|REF_RGD_ID:2312390 8862298 F7 coagulation factor VII gene DOID:576 proteinuria ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:increased activity:plasma (human) PMID:509177|REF_RGD_ID:2312414 8862298 F7 coagulation factor VII gene DOID:5844 myocardial infarction ISO RGD:1345586 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: F7-related condition | ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to | ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:10554827|PMID:10862079|PMID:10984565|PMID:11129332|PMID:11931672|PMID:12181036|PMID:12903033|PMID:12935978|PMID:15142120|PMID:15456489|PMID:15735798|PMID:1634227|PMID:18282149|PMID:18669152|PMID:18976247|PMID:20040857|PMID:2070047|PMID:20735728|PMID:20958793|PMID:21902896|PMID:22180436|PMID:25582404|PMID:25741868|PMID:25828579|PMID:25952977|PMID:26105150|PMID:28492532|PMID:31064749|PMID:34355501|PMID:6812354|PMID:7919338|PMID:7981691|PMID:8242057|PMID:8883260 8862298 F7 coagulation factor VII gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345586 D RGD:7240710 20240320 OMIM 8862298 F7 coagulation factor VII gene DOID:630 genetic disease ISO RGD:1345586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8862298 F7 coagulation factor VII gene DOID:8805 intermediate coronary syndrome ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:10653827|REF_RGD_ID:2312399 8862298 F7 coagulation factor VII gene DOID:8947 diabetic retinopathy ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) PMID:10837382|REF_RGD_ID:2312398 8862298 F7 coagulation factor VII gene DOID:9000363 Hematuria ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17133240 8862298 F7 coagulation factor VII gene DOID:9000790 Postoperative Complications ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12707733 8862298 F7 coagulation factor VII gene DOID:9001044 Choroidal Neovascularization ISO RGD:731512 D RGD:9068941 20200609 RGD mouse protein in a rat model PMID:19357351|REF_RGD_ID:2312299 8862298 F7 coagulation factor VII gene DOID:9001542 Albuminuria ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) PMID:8458188|REF_RGD_ID:2312410 8862298 F7 coagulation factor VII gene DOID:9001542 Albuminuria no_association ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:8250495|REF_RGD_ID:2312407 8862298 F7 coagulation factor VII gene DOID:9001542 Albuminuria severity ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:9187410|REF_RGD_ID:2312406 8862298 F7 coagulation factor VII gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:12095034|REF_RGD_ID:11049508 8862298 F7 coagulation factor VII gene DOID:9002557 Inherited Blood Coagulation Disease treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:10469179|REF_RGD_ID:11041654 8862298 F7 coagulation factor VII gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16671457|PMID:21127298 8862298 F7 coagulation factor VII gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:16671457|REF_RGD_ID:11049545 8862298 F7 coagulation factor VII gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15595332|PMID:16159073|PMID:18617125|PMID:20172985|PMID:20522813 8862298 F7 coagulation factor VII gene DOID:9003121 Thromboembolism ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20172985 8862298 F7 coagulation factor VII gene DOID:9003356 Extrahepatic Portal Vein Obstruction ISO RGD:628678 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:17660074|REF_RGD_ID:2312312 8862298 F7 coagulation factor VII gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:11167855|REF_RGD_ID:11049507 8862298 F7 coagulation factor VII gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:12714830|REF_RGD_ID:11041657 8862298 F7 coagulation factor VII gene DOID:9003871 Venous Thrombosis ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14967414 8862298 F7 coagulation factor VII gene DOID:9003871 Venous Thrombosis treatment ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:16378835|REF_RGD_ID:11041650 8862298 F7 coagulation factor VII gene DOID:9004484 Sepsis ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (rat) PMID:3660344|REF_RGD_ID:2312320 8862298 F7 coagulation factor VII gene DOID:9004484 Sepsis treatment ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 8862298 F7 coagulation factor VII gene DOID:9004562 Smoke Inhalation Injury ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:15204765|REF_RGD_ID:2312315 8862298 F7 coagulation factor VII gene DOID:9004590 Acute Liver Failure ISO RGD:1345586 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 8862298 F7 coagulation factor VII gene DOID:9005269 Stable Angina ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:17357481|REF_RGD_ID:11049525 8862298 F7 coagulation factor VII gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:11474472|REF_RGD_ID:2312396 8862298 F7 coagulation factor VII gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (rat) PMID:16779662|REF_RGD_ID:2312313 8862298 F7 coagulation factor VII gene DOID:9005930 Endotoxemia ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:11092686|REF_RGD_ID:7394782 8862298 F7 coagulation factor VII gene DOID:9005930 Endotoxemia treatment ISO RGD:731512 D RGD:9068941 20200609 RGD PMID:16378835|REF_RGD_ID:11041650 8862298 F7 coagulation factor VII gene DOID:9006205 Animal Disease Models ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21127298 8862298 F7 coagulation factor VII gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:628678 D RGD:9068941 20200609 RGD protein:altered activity:plasma (rat) PMID:2716922|REF_RGD_ID:2312392 8862298 F7 coagulation factor VII gene DOID:9006599 Hypertriglyceridemia ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:19329212|REF_RGD_ID:2312379 8862298 F7 coagulation factor VII gene DOID:9007622 Acute Subdural Hematoma ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12503044 8862298 F7 coagulation factor VII gene DOID:9007692 Insulin Resistance severity ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:9187410|REF_RGD_ID:2312406 8862298 F7 coagulation factor VII gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:22920553|REF_RGD_ID:11041662 8862298 F7 coagulation factor VII gene DOID:9008217 Hemorrhage ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12707733|PMID:12851533|PMID:16553518 8862298 F7 coagulation factor VII gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased expression:colorectal mucosa (human) PMID:22166631|REF_RGD_ID:11049522 8862298 F7 coagulation factor VII gene DOID:9008598 Traumatic Intracranial Hemorrhage ISO RGD:1345586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20370756 8862298 F7 coagulation factor VII gene DOID:9256 colorectal cancer ISO RGD:1345586 D RGD:9068941 20200609 RGD human protein in a rat model PMID:19062044|REF_RGD_ID:11049532 8862298 F7 coagulation factor VII gene DOID:9351 diabetes mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:10910004|REF_RGD_ID:2312393 8862298 F7 coagulation factor VII gene DOID:9351 diabetes mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:10899350|REF_RGD_ID:1598920 8862298 F7 coagulation factor VII gene DOID:9351 diabetes mellitus no_association ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:15258325|REF_RGD_ID:2312391 8862298 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:11689270|REF_RGD_ID:2312382 8862298 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Brain Infarction; protein:increased activity:plasma (human) PMID:18000605|REF_RGD_ID:2312380 8862298 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Kidney Failure; protein:increased expression:plasma (human) PMID:15860378|REF_RGD_ID:2312383 8862298 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:17785358|REF_RGD_ID:2312381 8862298 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus ISO RGD:628678 D RGD:9068941 20200609 RGD PMID:14614217|REF_RGD_ID:2312394 8862298 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:11137328|REF_RGD_ID:2312386 8862298 F7 coagulation factor VII gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:10332679|REF_RGD_ID:2312388 8862298 F7 coagulation factor VII gene DOID:9743 diabetic neuropathy ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:plasma (human) PMID:10468085|REF_RGD_ID:2312401 8862298 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:11146704|REF_RGD_ID:2312385 8862298 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:R353Q (human) PMID:9686915|REF_RGD_ID:2312389 8862298 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Kidney Failure; protein:increased expression:plasma (human) PMID:15860378|REF_RGD_ID:2312383 8862298 F7 coagulation factor VII gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity, expression:plasma (human) PMID:11297753|REF_RGD_ID:2312384 8862298 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:9068941 20200609 RGD PMID:14513073|REF_RGD_ID:2312395 8862298 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:9258277|REF_RGD_ID:2312404 8862298 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) PMID:16739871|REF_RGD_ID:1625710 8862298 F7 coagulation factor VII gene DOID:9970 obesity ISO RGD:1345586 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:19329212|REF_RGD_ID:2312379 8862318 Pum2 pumilio RNA binding family member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1322257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8862318 Pum2 pumilio RNA binding family member 2 gene DOID:630 genetic disease ISO RGD:1322257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862373 Otud3 OTU deubiquitinase 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8862373 Otud3 OTU deubiquitinase 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604042 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8862373 Otud3 OTU deubiquitinase 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1604042 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8862373 Otud3 OTU deubiquitinase 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1604042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8862373 Otud3 OTU deubiquitinase 3 gene DOID:630 genetic disease ISO RGD:1604042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862373 Otud3 OTU deubiquitinase 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8862386 Grb14 growth factor receptor bound protein 14 gene DOID:630 genetic disease ISO RGD:732013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862386 Grb14 growth factor receptor bound protein 14 gene DOID:9004657 Weight Gain ISO RGD:732013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8862386 Grb14 growth factor receptor bound protein 14 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 8862386 Grb14 growth factor receptor bound protein 14 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732013 D RGD:9068941 20231026 RGD associated with Environmental Illness; DNA:SNP:: (rs13389219) (Human) PMID:27281273|REF_RGD_ID:401850598 8862413 Ddx39a DExD-box helicase 39A gene DOID:630 genetic disease ISO RGD:1350107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862434 Tbc1d14 TBC1 domain family member 14 gene DOID:630 genetic disease ISO RGD:1320638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862477 Crat carnitine O-acetyltransferase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8862477 Crat carnitine O-acetyltransferase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1350289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:25741868|PMID:28492532|PMID:29395073 8862477 Crat carnitine O-acetyltransferase gene DOID:630 genetic disease ISO RGD:1350289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8862477 Crat carnitine O-acetyltransferase gene DOID:9008371 Carnitine Acetyltransferase Deficiency ISO RGD:1350289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY PMID:28492532|PMID:31448845 8862477 Crat carnitine O-acetyltransferase gene DOID:9009153 Neurodegeneration with Brain Iron Accumulation 8 ISO RGD:1350289 D RGD:7240710 20190315 OMIM 8862477 Crat carnitine O-acetyltransferase gene DOID:9009153 Neurodegeneration with Brain Iron Accumulation 8 ISO RGD:1350289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 8 PMID:25741868|PMID:28492532|PMID:29395073 8862503 Pcdhac1 protocadherin alpha subfamily C, 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8862503 Pcdhac1 protocadherin alpha subfamily C, 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8862503 Pcdhac1 protocadherin alpha subfamily C, 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1353050 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8862503 Pcdhac1 protocadherin alpha subfamily C, 1 gene DOID:630 genetic disease ISO RGD:1353050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862503 Pcdhac1 protocadherin alpha subfamily C, 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8862503 Pcdhac1 protocadherin alpha subfamily C, 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353050 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8862512 Wdr83 WD repeat domain 83 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8862512 Wdr83 WD repeat domain 83 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8862512 Wdr83 WD repeat domain 83 gene DOID:0111254 glutaric acidemia I ISO RGD:1601942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8862512 Wdr83 WD repeat domain 83 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1601942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 8862512 Wdr83 WD repeat domain 83 gene DOID:3413 alpha-mannosidosis ISO RGD:1601942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:22161967|PMID:28492532|PMID:32331969|PMID:9915946 8862512 Wdr83 WD repeat domain 83 gene DOID:630 genetic disease ISO RGD:1601942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862530 Lyrm7 LYR motif containing 7 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1602082 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 PMID:25741868|PMID:36757047 8862530 Lyrm7 LYR motif containing 7 gene DOID:0080117 mitochondrial complex III deficiency nuclear type 8 ISO RGD:1602082 D RGD:7240710 20180130 OMIM 8862530 Lyrm7 LYR motif containing 7 gene DOID:0080117 mitochondrial complex III deficiency nuclear type 8 ISO RGD:1602082 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 8 PMID:24014394|PMID:25741868|PMID:26912632|PMID:28492532|PMID:34919756|PMID:36757047 8862530 Lyrm7 LYR motif containing 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8862530 Lyrm7 LYR motif containing 7 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1602082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 8862530 Lyrm7 LYR motif containing 7 gene DOID:630 genetic disease ISO RGD:1602082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8862530 Lyrm7 LYR motif containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8862530 Lyrm7 LYR motif containing 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8862592 Irf6 interferon regulatory factor 6 gene DOID:0060055 popliteal pterygium syndrome ISO RGD:1320095 D RGD:7240710 20180130 OMIM 8862592 Irf6 interferon regulatory factor 6 gene DOID:0060055 popliteal pterygium syndrome ISO RGD:1320095 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome PMID:12219090|PMID:14757865|PMID:15558496|PMID:16096995|PMID:17551329|PMID:18209213|PMID:18478600|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19734457|PMID:20803643|PMID:22440537|PMID:22488974|PMID:23949966|PMID:24936515|PMID:25547932|PMID:25548624|PMID:25691407|PMID:25741868|PMID:28492532|PMID:29453417 8862592 Irf6 interferon regulatory factor 6 gene DOID:0060239 Van der Woude syndrome ISO RGD:1320095 D RGD:7240710 20180130 OMIM 8862592 Irf6 interferon regulatory factor 6 gene DOID:0060239 Van der Woude syndrome ISO RGD:1320095 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cleft lip and/or palate with mucous cysts of lower lip | ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:12219090|PMID:12920575|PMID:14618417|PMID:14640121|PMID:14757865|PMID:15317890|PMID:15472655|PMID:15558496|PMID:16096995|PMID:16160700|PMID:16199547|PMID:16211254|PMID:17551329|PMID:18209213|PMID:18478600|PMID:18506368|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19449419|PMID:19623037|PMID:19734457|PMID:19842205|PMID:20184620|PMID:20301581|PMID:21045959|PMID:21468557|PMID:22440537|PMID:22488974|PMID:23154523|PMID:23949966|PMID:24936515|PMID:25326635|PMID:25547932|PMID:25548624|PMID:25579819|PMID:25741868|PMID:25784454|PMID:27243668|PMID:28492532|PMID:28945736|PMID:29115498|PMID:29453417|PMID:30689861|PMID:31468312|PMID:36901693 8862592 Irf6 interferon regulatory factor 6 gene DOID:0080403 orofacial cleft 10 ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 10 PMID:26346622|PMID:27834299|PMID:28762674|PMID:28762675|PMID:28762676 8862592 Irf6 interferon regulatory factor 6 gene DOID:0080593 orofacial cleft 6 ISO RGD:1320095 D RGD:7240710 20191127 OMIM 8862592 Irf6 interferon regulatory factor 6 gene DOID:0080593 orofacial cleft 6 ISO RGD:1320095 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to PMID:12219090|PMID:12920575|PMID:15317890|PMID:15472655|PMID:15558496|PMID:16096995|PMID:16160700|PMID:16199547|PMID:16211254|PMID:16998136|PMID:17551329|PMID:17576681|PMID:18209213|PMID:18617879|PMID:19036739|PMID:19282774|PMID:19449419|PMID:19536562|PMID:19623037|PMID:19734457|PMID:19842205|PMID:20184620|PMID:20301581|PMID:21045959|PMID:21468557|PMID:21739575|PMID:22440537|PMID:22488974|PMID:23154523|PMID:23394314|PMID:23713753|PMID:23949966|PMID:24936515|PMID:25326635|PMID:25547932|PMID:25548624|PMID:25579819|PMID:25741868|PMID:25784454|PMID:26346622|PMID:28361103|PMID:28492532|PMID:28945736|PMID:29115498|PMID:29453417|PMID:30982524|PMID:31468312|PMID:31901040|PMID:32108996|PMID:32558391|PMID:36901693|PMID:9536098 8862592 Irf6 interferon regulatory factor 6 gene DOID:11193 syndactyly ISO RGD:1320095 D RGD:9068941 20200609 RGD popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X PMID:12219090|REF_RGD_ID:1600214 8862592 Irf6 interferon regulatory factor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8862592 Irf6 interferon regulatory factor 6 gene DOID:630 genetic disease ISO RGD:1320095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12219090|PMID:16199547|PMID:19282774|PMID:19623037|PMID:21468557|PMID:25579819|PMID:28492532 8862592 Irf6 interferon regulatory factor 6 gene DOID:674 cleft palate ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:12920575|PMID:25741868 8862592 Irf6 interferon regulatory factor 6 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1320095 D RGD:9068941 20200609 RGD popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X PMID:12219090|REF_RGD_ID:1600214 8862592 Irf6 interferon regulatory factor 6 gene DOID:9001946 Skin Abnormalities ISO RGD:1320095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 8862592 Irf6 interferon regulatory factor 6 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 8862592 Irf6 interferon regulatory factor 6 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320095 D RGD:9068941 20200609 RGD popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X PMID:12219090|REF_RGD_ID:1600214 8862592 Irf6 interferon regulatory factor 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17041601 8862592 Irf6 interferon regulatory factor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8862592 Irf6 interferon regulatory factor 6 gene DOID:9296 cleft lip ISO RGD:1320095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant PMID:28492532 8862647 Snx29 sorting nexin 29 gene DOID:5419 schizophrenia ISO RGD:1604256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8862647 Snx29 sorting nexin 29 gene DOID:630 genetic disease ISO RGD:1604256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862672 Cep152 centrosomal protein 152 gene DOID:0050569 Seckel syndrome ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:24033266|PMID:25741868 8862672 Cep152 centrosomal protein 152 gene DOID:0070007 Seckel syndrome 1 ISO RGD:1604825 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131973 8862672 Cep152 centrosomal protein 152 gene DOID:0070012 Seckel syndrome 5 ISO RGD:1604825 D RGD:7240710 20180130 OMIM 8862672 Cep152 centrosomal protein 152 gene DOID:0070012 Seckel syndrome 5 ISO RGD:1604825 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CEP152-Related Disorders | ClinVar Annotator: match by term: Seckel syndrome 5 PMID:16199547|PMID:17576681|PMID:18414213|PMID:20598275|PMID:21131973|PMID:25741868|PMID:25996639|PMID:28492532|PMID:9536098 8862672 Cep152 centrosomal protein 152 gene DOID:0070292 primary autosomal recessive microcephaly 9 ISO RGD:1604825 D RGD:7240710 20180130 OMIM 8862672 Cep152 centrosomal protein 152 gene DOID:0070292 primary autosomal recessive microcephaly 9 ISO RGD:1604825 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: CEP152-related condition | ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive PMID:16199547|PMID:18414213|PMID:20598275|PMID:21131973|PMID:24033266|PMID:25741868|PMID:25996639|PMID:28454995|PMID:28492532|PMID:34402213 8862672 Cep152 centrosomal protein 152 gene DOID:10907 microcephaly ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive 8862672 Cep152 centrosomal protein 152 gene DOID:14323 Marfan syndrome ISO RGD:1604825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17492313|PMID:17657824|PMID:19293843|PMID:28492532 8862672 Cep152 centrosomal protein 152 gene DOID:2717 Bloom syndrome ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8862672 Cep152 centrosomal protein 152 gene DOID:630 genetic disease ISO RGD:1604825 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:21131973|PMID:25741868|PMID:28492532 8862672 Cep152 centrosomal protein 152 gene DOID:9256 colorectal cancer ISO RGD:1604825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8862710 Cenpm centromere protein M gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8862710 Cenpm centromere protein M gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1316428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8862710 Cenpm centromere protein M gene DOID:1059 intellectual disability ISO RGD:1316428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8862710 Cenpm centromere protein M gene DOID:630 genetic disease ISO RGD:1316428 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862710 Cenpm centromere protein M gene DOID:684 hepatocellular carcinoma ISO RGD:1316428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8862732 Dnm3 dynamin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8862732 Dnm3 dynamin 3 gene DOID:630 genetic disease ISO RGD:1354127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862732 Dnm3 dynamin 3 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8862732 Dnm3 dynamin 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:1354127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 8862732 Dnm3 dynamin 3 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8862732 Dnm3 dynamin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8862766 Trim13 tripartite motif containing 13 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8862766 Trim13 tripartite motif containing 13 gene DOID:1059 intellectual disability ISO RGD:1316901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8862766 Trim13 tripartite motif containing 13 gene DOID:630 genetic disease ISO RGD:1316901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862774 Klhdc3 kelch domain containing 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1316101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8862774 Klhdc3 kelch domain containing 3 gene DOID:630 genetic disease ISO RGD:1316101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862774 Klhdc3 kelch domain containing 3 gene DOID:905 Zellweger syndrome ISO RGD:1316101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8862798 Kcnh3 potassium voltage-gated channel subfamily H member 3 gene DOID:630 genetic disease ISO RGD:733984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862821 Axin1 axin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:736564 D RGD:9068941 20211217 RGD mRNA:increased expression:oral epithelium (human) PMID:21393552|REF_RGD_ID:150530486 8862821 Axin1 axin 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD protein:decreased expression:oral epithelium (human) PMID:17143481|REF_RGD_ID:150530474 8862821 Axin1 axin 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736564 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8862821 Axin1 axin 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:736564 D RGD:9068941 20211210 RGD DNA:SNPs:5'utr: (rs12921862, rs1805105, rs370681) (human) PMID:31143301|REF_RGD_ID:150527861 8862821 Axin1 axin 1 gene DOID:1324 lung cancer disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD DNA:hypermethylation PMID:23192643|REF_RGD_ID:150527862 8862821 Axin1 axin 1 gene DOID:1324 lung cancer disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD protein:decreased expression:lung (human) PMID:21496867|REF_RGD_ID:150530293 8862821 Axin1 axin 1 gene DOID:1324 lung cancer treatment ISO RGD:736564 D RGD:9068941 20211210 RGD human cells in mouse model PMID:23915259|PMID:32051824|REF_RGD_ID:150530274|REF_RGD_ID:150530284 8862821 Axin1 axin 1 gene DOID:1826 epilepsy ISO RGD:736564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 8862821 Axin1 axin 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8862821 Axin1 axin 1 gene DOID:219 colon cancer treatment ISO RGD:620859 D RGD:9068941 20211210 RGD PMID:28032729|REF_RGD_ID:150530464 8862821 Axin1 axin 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD protein:decreased expression:esophagus (human) PMID:12771989|REF_RGD_ID:150530473 8862821 Axin1 axin 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD protein:decreased expression:lung (human) PMID:19735876|REF_RGD_ID:150530290 8862821 Axin1 axin 1 gene DOID:5082 liver cirrhosis ISO RGD:736564 D RGD:9068941 20211217 RGD protein:decreased expression:liver (human) PMID:31514071|REF_RGD_ID:150530482 8862821 Axin1 axin 1 gene DOID:630 genetic disease ISO RGD:736564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862821 Axin1 axin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736564 D RGD:7240710 20180130 OMIM 8862821 Axin1 axin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10700176|PMID:25741868|PMID:28492532 8862821 Axin1 axin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211210 RGD associated with Hepatitis B, Chronic,DNA:SNP, haplotype:exon:(rs1805105) T>C (human) PMID:26968103|REF_RGD_ID:14402039 8862821 Axin1 axin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736564 D RGD:9068941 20211217 RGD protein:decreased expression:liver (human) PMID:31514071|REF_RGD_ID:150530482 8862821 Axin1 axin 1 gene DOID:9002004 Caudal Duplication Anomaly ISO RGD:736564 D RGD:7240710 20180130 OMIM 8862821 Axin1 axin 1 gene DOID:9002004 Caudal Duplication Anomaly ISO RGD:736564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Caudal duplication anomaly PMID:25741868|PMID:28492532 8862821 Axin1 axin 1 gene DOID:9007954 CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA ISO RGD:736564 D RGD:7240710 20240124 OMIM 8862821 Axin1 axin 1 gene DOID:9007954 CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA ISO RGD:736564 D RGD:8554872 20240123 ClinVar ClinVar Annotator: match by term: Craniometadiaphyseal osteosclerosis with hip dysplasia PMID:37582359 8862851 Tsnax translin associated factor X gene DOID:1540 parathyroid carcinoma ISO RGD:1346427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8862851 Tsnax translin associated factor X gene DOID:630 genetic disease ISO RGD:1346427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862851 Tsnax translin associated factor X gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1346427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8862851 Tsnax translin associated factor X gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8862861 Itgb8 integrin subunit beta 8 gene DOID:0050589 inflammatory bowel disease ISO RGD:1322799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 8862861 Itgb8 integrin subunit beta 8 gene DOID:0080600 COVID-19 ISO RGD:1322799 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8862861 Itgb8 integrin subunit beta 8 gene DOID:289 endometriosis ISO RGD:1322799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8862861 Itgb8 integrin subunit beta 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8862861 Itgb8 integrin subunit beta 8 gene DOID:630 genetic disease ISO RGD:1322799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8862861 Itgb8 integrin subunit beta 8 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8862933 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:1312719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obstructive sleep apnea syndrome PMID:25741868|PMID:28492532|PMID:30755392 8862933 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0050952 spastic ataxia ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 8862933 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0060224 atrial fibrillation ISO RGD:1312719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366|PMID:29892015 8862933 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 ISO RGD:1312719 D RGD:7240710 20180912 OMIM 8862933 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 ISO RGD:1312719 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar Annotator: match by term: SYNE2-related condition PMID:16199547|PMID:17576681|PMID:17761684|PMID:18414213|PMID:22995991|PMID:25179549|PMID:25214167|PMID:25587064|PMID:25741868|PMID:26094658|PMID:26467025|PMID:27632638|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28798025|PMID:30755392|PMID:9536098 8862933 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:11383 cryptorchidism ISO RGD:1305248 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:26502805|REF_RGD_ID:12911229 8862933 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:26467025|PMID:28492532 8862933 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1312719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 8862933 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:1969 cerebral palsy ISO RGD:1312719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8862933 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:28492532 8862933 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:4450 renal cell carcinoma ISO RGD:1312719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8862933 Syne2 spectrin repeat containing nuclear envelope protein 2 gene DOID:630 genetic disease ISO RGD:1312719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8863071 Tex13a testis expressed 13A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8863071 Tex13a testis expressed 13A gene DOID:12849 autistic disorder ISO RGD:1352852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8863071 Tex13a testis expressed 13A gene DOID:630 genetic disease ISO RGD:1352852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863078 Znf366 zinc finger protein 366 gene DOID:0080600 COVID-19 ISO RGD:1314635 D RGD:9068941 20220523 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8863078 Znf366 zinc finger protein 366 gene DOID:11198 DiGeorge syndrome ISO RGD:1616531 D RGD:9068941 20220825 MouseDO OMIM:188400 8863078 Znf366 zinc finger protein 366 gene DOID:303 substance-related disorder ISO RGD:1314635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8863078 Znf366 zinc finger protein 366 gene DOID:630 genetic disease ISO RGD:1314635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863078 Znf366 zinc finger protein 366 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8863078 Znf366 zinc finger protein 366 gene DOID:9008939 Breast Neoplasms ISO RGD:1314635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008677 8863078 Znf366 zinc finger protein 366 gene DOID:9008939 Breast Neoplasms ISO RGD:1616531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21122099 8863087 Daw1 dynein assembly factor with WD repeats 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1615857 D RGD:9068941 20220825 MouseDO 8863087 Daw1 dynein assembly factor with WD repeats 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1615857 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8863087 Daw1 dynein assembly factor with WD repeats 1 gene DOID:630 genetic disease ISO RGD:1602062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863087 Daw1 dynein assembly factor with WD repeats 1 gene DOID:9003681 Primary Ciliary Dyskinesia 52 ISO RGD:1602062 D RGD:7240710 20231115 OMIM 8863087 Daw1 dynein assembly factor with WD repeats 1 gene DOID:9003681 Primary Ciliary Dyskinesia 52 ISO RGD:1602062 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 52 PMID:28991257|PMID:36074124 8863087 Daw1 dynein assembly factor with WD repeats 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602062 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28991257|PMID:36074124 8863124 Mrps23 mitochondrial ribosomal protein S23 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315875 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8863124 Mrps23 mitochondrial ribosomal protein S23 gene DOID:0112115 combined oxidative phosphorylation deficiency 46 ISO RGD:1315875 D RGD:7240710 20200812 OMIM 8863124 Mrps23 mitochondrial ribosomal protein S23 gene DOID:0112115 combined oxidative phosphorylation deficiency 46 ISO RGD:1315875 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 46 PMID:25741868|PMID:26741492|PMID:28492532 8863124 Mrps23 mitochondrial ribosomal protein S23 gene DOID:1059 intellectual disability ISO RGD:1315875 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8863124 Mrps23 mitochondrial ribosomal protein S23 gene DOID:630 genetic disease ISO RGD:1315875 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26741492|PMID:28492532 8863124 Mrps23 mitochondrial ribosomal protein S23 gene DOID:9008939 Breast Neoplasms ISO RGD:1315875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 8863133 Rundc3a RUN domain containing 3A gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1605704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 8863133 Rundc3a RUN domain containing 3A gene DOID:630 genetic disease ISO RGD:1605704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863152 Has1 hyaluronan synthase 1 gene DOID:2661 myoepithelioma ISO RGD:1343910 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8863152 Has1 hyaluronan synthase 1 gene DOID:399 tuberculosis ISO RGD:1552209 D RGD:9068941 20200609 RGD PMID:19876387|REF_RGD_ID:9588638 8863152 Has1 hyaluronan synthase 1 gene DOID:630 genetic disease ISO RGD:1343910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863152 Has1 hyaluronan synthase 1 gene DOID:6432 pulmonary hypertension ISO RGD:708528 D RGD:9068941 20200609 RGD PMID:19915162|REF_RGD_ID:9588633 8863152 Has1 hyaluronan synthase 1 gene DOID:9003936 Cardiomegaly ISO RGD:708528 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18196276|REF_RGD_ID:2289364 8863152 Has1 hyaluronan synthase 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:708528 D RGD:9068941 20200609 RGD PMID:22529164|REF_RGD_ID:9588636 8863161 Otulinl OTU deubiquitinase with linear linkage specificity like gene DOID:630 genetic disease ISO RGD:1604002 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863161 Otulinl OTU deubiquitinase with linear linkage specificity like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:0050425 restless legs syndrome ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18660810 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:0050425 restless legs syndrome ISO RGD:1561090 D RGD:9068941 20240229 RGD protein:decreased expression:striatum (rat) PMID:36053904|REF_RGD_ID:401976457 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:0050425 restless legs syndrome treatment ISO RGD:1561090 D RGD:9068941 20240222 RGD PMID:37633178|REF_RGD_ID:401976430 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348083 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:10283 prostate cancer ISO RGD:1348083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:1059 intellectual disability ISO RGD:1348083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:10763 hypertension treatment ISO RGD:1348083 D RGD:9068941 20240222 RGD DNA:SNP:enhancer: (rs10739150) (human) PMID:26425837|REF_RGD_ID:11085524 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19546859 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:3393 coronary artery disease ISO RGD:1348083 D RGD:9068941 20240229 RGD DNA:SNP:intron: (rs10115782) (human) PMID:22216278|REF_RGD_ID:401976461 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:630 genetic disease ISO RGD:1348083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1348083 D RGD:9068941 20240222 RGD mRNA:decreased expression:blood, pulmonary artery (human) PMID:35848503|REF_RGD_ID:401976433 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:9003858 Environmental Illness susceptibility ISO RGD:1348083 D RGD:9068941 20231026 RGD PMID:27281273|REF_RGD_ID:401850598 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:1561090 D RGD:9068941 20240222 RGD mRNA, protein:decreased expression:pulmonary artery (rat) PMID:35848503|REF_RGD_ID:401976433 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:9006738 Hypertension Resistant to Conventional Therapy susceptibility ISO RGD:1348083 D RGD:9068941 20240222 RGD associated with coronary artery disease;DNA:SNP:intron: (rs324498) (human) PMID:30237584|REF_RGD_ID:401976431 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:9008939 Breast Neoplasms ISO RGD:1348083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:9351 diabetes mellitus disease_progression ISO RGD:1348083 D RGD:9068941 20240222 RGD DNA:SNP:intron: (rs17584499) (human) PMID:21767287|REF_RGD_ID:401976426 8863175 Ptprd protein tyrosine phosphatase receptor type D gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1348083 D RGD:9068941 20231026 RGD associated with Environmental Illness; DNA:SNP:intron: (rs16927668) (Human) PMID:27281273|REF_RGD_ID:401850598 8863249 Alpk3 alpha kinase 3 gene DOID:0050700 cardiomyopathy ISO RGD:1344760 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:21441111|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:32480058|PMID:33191771|PMID:34263907 8863249 Alpk3 alpha kinase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344760 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21441111|PMID:24033266|PMID:26846950|PMID:27106955|PMID:28492532|PMID:30847666|PMID:32480058|PMID:34263907 8863249 Alpk3 alpha kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1344760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8863249 Alpk3 alpha kinase 3 gene DOID:630 genetic disease ISO RGD:1344760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8863249 Alpk3 alpha kinase 3 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1344760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 8863249 Alpk3 alpha kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21441111|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:29661763|PMID:32480058|PMID:34263907 8863249 Alpk3 alpha kinase 3 gene DOID:9009188 Hypertrophic Cardiomyopathy 27 ISO RGD:1344760 D RGD:7240710 20190315 OMIM 8863249 Alpk3 alpha kinase 3 gene DOID:9009188 Hypertrophic Cardiomyopathy 27 ISO RGD:1344760 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: ALPK3-related condition | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic 27 PMID:17576681|PMID:21441111|PMID:24033266|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:29661763|PMID:30046096|PMID:30192042|PMID:30513141|PMID:30847666|PMID:31074094|PMID:32442321|PMID:32480058|PMID:32746448|PMID:33076350|PMID:34263907|PMID:34526680|PMID:34645221|PMID:9536098 8863249 Alpk3 alpha kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1344760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320170 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10398605|PMID:10871396|PMID:11121129|PMID:11773631|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:24130121|PMID:25256075|PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0050444 infantile Refsum disease ISO RGD:1320170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0060792 hypomyelinating leukodystrophy 11 ISO RGD:1320170 D RGD:7240710 20180130 OMIM 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0060792 hypomyelinating leukodystrophy 11 ISO RGD:1320170 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11 PMID:11013442|PMID:21131976|PMID:22563501|PMID:22855961|PMID:25741868|PMID:26151409|PMID:26467025|PMID:28327206|PMID:28492532|PMID:29567474|PMID:29644095|PMID:30311386|PMID:30505682|PMID:30957429|PMID:31019026|PMID:32042905|PMID:33597727|PMID:33804237|PMID:33888711|PMID:34645491|PMID:610060 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0070396 progressive leukoencephalopathy with ovarian failure ISO RGD:1320170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:28492532|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31885218|PMID:33972171|PMID:35084689|PMID:35305867 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0070403 hypomyelinating leukodystrophy 26 ISO RGD:1320170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia PMID:35325049 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0080205 CAKUT ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0080791 Treacher Collins syndrome 3 ISO RGD:1320170 D RGD:7240710 20180130 OMIM 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0080791 Treacher Collins syndrome 3 ISO RGD:1320170 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: POLR1C-Related Disorders | ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive | ClinVar Annotator: match by term: Treacher Collins syndrome 3 PMID:11013442|PMID:17576681|PMID:21131976|PMID:22563501|PMID:22855961|PMID:24942156|PMID:25741868|PMID:26151409|PMID:26467025|PMID:28327206|PMID:28492532|PMID:29567474|PMID:29644095|PMID:30311386|PMID:30957429|PMID:31019026|PMID:32042905|PMID:33597727|PMID:33804237|PMID:33888711|PMID:34645491|PMID:610060|PMID:9536098 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0110601 primary ciliary dyskinesia 12 ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 PMID:19200523|PMID:23993197|PMID:24033266|PMID:25741868|PMID:28492532 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain PMID:32581362 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0110847 xeroderma pigmentosum variant type ISO RGD:1320170 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum variant type PMID:10385124|PMID:10398605|PMID:10871396|PMID:11121129|PMID:11773631|PMID:16199547|PMID:17344931|PMID:17576681|PMID:18368133|PMID:18703314|PMID:20577208|PMID:24033266|PMID:24130121|PMID:25256075|PMID:25741868|PMID:26884178|PMID:27004399|PMID:27664908|PMID:28202063|PMID:28492532|PMID:28688171|PMID:30414346|PMID:32239545|PMID:33558524|PMID:35111200|PMID:36308448|PMID:38212351|PMID:9536098 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1320170 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30054184|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31106991|PMID:31885218|PMID:35305867|PMID:37377599 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity ISO RGD:1320170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations PMID:35325049 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320170 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: TMEM63B-associated disorder PMID:25741868|PMID:37421948 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:1098 fetal erythroblastosis ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal Erythroblastosis 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:11713 diabetic angiopathy ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1 PMID:11978667 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:1612 breast cancer ISO RGD:1320170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:1936 atherosclerosis ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atherosclerosis, susceptibility to PMID:15732116|PMID:15937083|PMID:18413368 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:4947 cholangiocarcinoma ISO RGD:1320170 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:18550579 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:630 genetic disease ISO RGD:1320170 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11013442|PMID:17576681|PMID:21131976|PMID:21549344|PMID:22277967|PMID:22855961|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:26151409|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29567474|PMID:29749055|PMID:29971983|PMID:30285085|PMID:30957429|PMID:31099476|PMID:31885218|PMID:32042905|PMID:32080176|PMID:32319008|PMID:32581362|PMID:33804237|PMID:35305867|PMID:610060|PMID:9536098 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:9000096 Lung Agenesis ISO RGD:1320170 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pulmonary hypoplasia PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31106991 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:9004538 Hearing Loss ISO RGD:1320170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:22855961|PMID:25741868|PMID:26151409|PMID:28492532|PMID:30311386|PMID:32042905|PMID:33804237|PMID:610060 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:9004768 Carey-Fineman-Ziter Syndrome 2 ISO RGD:1320170 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 PMID:35642635 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:9005019 JABERI-ELAHI SYNDROME ISO RGD:1320170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Jaberi-Elahi syndrome PMID:25741868|PMID:29449720|PMID:30790272|PMID:32860008 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1320170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131976 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:905 Zellweger syndrome ISO RGD:1320170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8863270 Polr1c RNA polymerase I and III subunit C gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320170 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:19200523|PMID:22384920|PMID:23993197|PMID:24033266|PMID:24307375|PMID:25741868|PMID:25789548|PMID:28492532|PMID:30067075 8863283 Cd72 CD72 molecule gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8863283 Cd72 CD72 molecule gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1320264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8863283 Cd72 CD72 molecule gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320264 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8863283 Cd72 CD72 molecule gene DOID:0080942 anauxetic dysplasia ISO RGD:1320264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8863283 Cd72 CD72 molecule gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1320264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8863283 Cd72 CD72 molecule gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8863283 Cd72 CD72 molecule gene DOID:630 genetic disease ISO RGD:1320264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863283 Cd72 CD72 molecule gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320264 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8863283 Cd72 CD72 molecule gene DOID:9870 galactosemia ISO RGD:1320264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8863296 LOC102012785 histone H1x gene DOID:0080600 COVID-19 ISO RGD:1354284 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8863296 LOC102012785 histone H1x gene DOID:0111947 immunodeficiency 21 ISO RGD:1354284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8863296 LOC102012785 histone H1x gene DOID:3910 lung adenocarcinoma ISO RGD:1620558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8863296 LOC102012785 histone H1x gene DOID:630 genetic disease ISO RGD:1354284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863296 LOC102012785 histone H1x gene DOID:9006205 Animal Disease Models ISO RGD:1620558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8863296 LOC102012785 histone H1x gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1354284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8863296 LOC102012785 histone H1x gene DOID:9270 alkaptonuria ISO RGD:1354284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8863321 Glrx5 glutaredoxin 5 gene DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ISO RGD:1318119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8863321 Glrx5 glutaredoxin 5 gene DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 ISO RGD:1318119 D RGD:7240710 20190315 OMIM 8863321 Glrx5 glutaredoxin 5 gene DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 ISO RGD:1318119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia 3 PMID:17485548|PMID:20364084|PMID:25342667|PMID:25741868|PMID:26100117|PMID:30660387 8863321 Glrx5 glutaredoxin 5 gene DOID:630 genetic disease ISO RGD:1318119 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8863321 Glrx5 glutaredoxin 5 gene DOID:8955 sideroblastic anemia ISO RGD:1318119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18637800 8863321 Glrx5 glutaredoxin 5 gene DOID:9001337 Childhood-Onset Spasticity with Hyperglycinemia ISO RGD:1318119 D RGD:7240710 20190315 OMIM 8863321 Glrx5 glutaredoxin 5 gene DOID:9001337 Childhood-Onset Spasticity with Hyperglycinemia ISO RGD:1318119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia PMID:24334290|PMID:25741868|PMID:28492532 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:1316162 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:21965755|REF_RGD_ID:9684941 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1316162 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:1316162 D RGD:9068941 20200609 RGD PMID:19528090|REF_RGD_ID:9684940 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:0112249 GAPO syndrome ISO RGD:1316162 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GAPO syndrome PMID:23602711|PMID:24033266|PMID:25045128|PMID:25741868|PMID:28492532|PMID:9180938|PMID:9298746 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:0112249 GAPO syndrome susceptibility ISO RGD:1316162 D RGD:7240710 20240306 OMIM 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1316162 D RGD:9068941 20200609 RGD mRNA:increased expression:breast: PMID:17016666|REF_RGD_ID:9684946 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:4948 gallbladder carcinoma severity ISO RGD:1316162 D RGD:9068941 20200609 RGD PMID:21545221|REF_RGD_ID:9684943 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1316162 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28655553|PMID:29436111 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1316163 D RGD:9068941 20200609 RGD PMID:20650339|REF_RGD_ID:9684932 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316162 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental; PMID:22085271|REF_RGD_ID:9684855 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9004118 Experimental Melanoma ISO RGD:1316163 D RGD:9068941 20200609 RGD PMID:19622764|REF_RGD_ID:9684925 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1316162 D RGD:9068941 20200609 RGD PMID:19609240|REF_RGD_ID:9684939 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1316162 D RGD:9068941 20200609 RGD PMID:22085271|REF_RGD_ID:9684855 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:1316162 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Capillary infantile hemangioma PMID:18931684|PMID:25741868|PMID:28492532 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9008660 Infantile Capillary Hemangioma susceptibility ISO RGD:1316162 D RGD:7240710 20240306 OMIM 8863341 Antxr1 ANTXR cell adhesion molecule 1 gene DOID:9256 colorectal cancer ISO RGD:1316162 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:21573768|REF_RGD_ID:9684945 8863377 Stxbp5 syntaxin binding protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1347913 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8863377 Stxbp5 syntaxin binding protein 5 gene DOID:630 genetic disease ISO RGD:1347913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863448 Serpina12 serpin family A member 12 gene DOID:0081063 DICER1 syndrome ISO RGD:1348482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 8863448 Serpina12 serpin family A member 12 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1348482 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 8863448 Serpina12 serpin family A member 12 gene DOID:630 genetic disease ISO RGD:1348482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863448 Serpina12 serpin family A member 12 gene DOID:9006003 Palmoplantar Keratoderma, Norrbotten Recessive Type ISO RGD:1348482 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Keratoderma, palmoplantar, Norrbotten recessive type PMID:32247861 8863448 Serpina12 serpin family A member 12 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:1348482 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:16030142|REF_RGD_ID:1547845 8863448 Serpina12 serpin family A member 12 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:708485 D RGD:9068941 20200609 RGD PMID:16030142|REF_RGD_ID:1547845 8863448 Serpina12 serpin family A member 12 gene DOID:9970 obesity treatment ISO RGD:708485 D RGD:9068941 20200609 RGD PMID:16030142|REF_RGD_ID:1547845 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:733374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26599507 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:0050474 Netherton syndrome ISO RGD:733374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657595 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:0060074 ductal carcinoma in situ ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17163404|REF_RGD_ID:2315089 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:0060720 autosomal recessive congenital ichthyosis 11 ISO RGD:733374 D RGD:7240710 20180130 OMIM 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:0060720 autosomal recessive congenital ichthyosis 11 ISO RGD:733374 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11 PMID:12207612|PMID:17273967|PMID:18445049|PMID:18843291|PMID:25741868|PMID:28492532|PMID:29611532|PMID:9450882 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:0080600 COVID-19 ISO RGD:733374 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:0111723 Jacobsen Syndrome ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:12894 Sjogren's syndrome ISO RGD:733375 D RGD:9068941 20220825 MouseDO OMIM:270150 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:2999 granulosa cell tumor ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16439987|REF_RGD_ID:2315091 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:4441 dysgerminoma ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16439987|REF_RGD_ID:2315091 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:4450 renal cell carcinoma ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16501837|REF_RGD_ID:2315090 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:5419 schizophrenia ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:630 genetic disease ISO RGD:733374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:8634 prostate carcinoma in situ ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18813126|REF_RGD_ID:2315088 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9000081 Lymphatic Metastasis ISO RGD:733374 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms PMID:19443387|REF_RGD_ID:2315087 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733374 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17456594|REF_RGD_ID:2315092 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733374 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18813126|REF_RGD_ID:2315088 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9002189 High Myopia ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9002304 Prostatic Neoplasms ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18813126|REF_RGD_ID:2315088 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9002762 Ovarian Neoplasms ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16439987|REF_RGD_ID:2315091 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9003373 Uterine Cervical Neoplasms severity ISO RGD:733374 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix PMID:16021568|REF_RGD_ID:2315093 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733374 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;protein:increased expression:ovary PMID:16439987|REF_RGD_ID:2315091 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9007661 Dwarfism ISO RGD:733374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:19443387|REF_RGD_ID:2315087 8863476 St14 ST14 transmembrane serine protease matriptase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:733374 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17163404|REF_RGD_ID:2315089 8863502 Cggbp1 CGG triplet repeat binding protein 1 gene DOID:630 genetic disease ISO RGD:1317722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863519 Slc22a23 solute carrier family 22 member 23 gene DOID:630 genetic disease ISO RGD:1347503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863519 Slc22a23 solute carrier family 22 member 23 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8863532 Serpinb13 serpin family B member 13 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312230 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8863532 Serpinb13 serpin family B member 13 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1312230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8863532 Serpinb13 serpin family B member 13 gene DOID:10283 prostate cancer ISO RGD:1312230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8863532 Serpinb13 serpin family B member 13 gene DOID:630 genetic disease ISO RGD:1312230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863548 Ccdc90b coiled-coil domain containing 90B gene DOID:1059 intellectual disability ISO RGD:1605354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8863548 Ccdc90b coiled-coil domain containing 90B gene DOID:630 genetic disease ISO RGD:1605354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050651 atrioventricular septal defect ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AVC DEFECT PMID:25741868|PMID:28492532 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:7240710 20180130 OMIM 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0050834 CHARGE syndrome ISO RGD:1323630 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CHARGE association | ClinVar Annotator: match by term: CHD7-related condition | ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16169932|PMID:16199547|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17253929|PMID:17299439|PMID:17334995|PMID:17576681|PMID:17661815|PMID:17684005|PMID:17937444|PMID:18073582|PMID:18074359|PMID:18089695|PMID:18413373|PMID:18414213|PMID:18445044|PMID:18484313|PMID:18505430|PMID:18834967|PMID:18978652|PMID:19021638|PMID:19112063|PMID:19763152|PMID:19772954|PMID:20130577|PMID:20186815|PMID:20301296|PMID:20307669|PMID:20453063|PMID:20624498|PMID:20884005|PMID:21041284|PMID:21158681|PMID:21196067|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21856375|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22035731|PMID:22258531|PMID:22399515|PMID:22406018|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:22902603|PMID:23024289|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23806086|PMID:23849776|PMID:23883829|PMID:23885230|PMID:23956205|PMID:24033266|PMID:24088041|PMID:24368733|PMID:24755471|PMID:24819706|PMID:24862881|PMID:24979395|PMID:25064402|PMID:25077900|PMID:25326635|PMID:25326637|PMID:25383892|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26141714|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26666243|PMID:26785492|PMID:26813943|PMID:26929907|PMID:26986878|PMID:27061523|PMID:27562378|PMID:27832265|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28166811|PMID:28191889|PMID:28475860|PMID:28492532|PMID:28554332|PMID:28832562|PMID:28991257|PMID:29152903|PMID:29178447|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:29355723|PMID:29419413|PMID:30029678|PMID:30293987|PMID:30311386|PMID:30653986|PMID:30733481|PMID:30828794|PMID:31019026|PMID:31042289|PMID:31043788|PMID:31130284|PMID:31146700|PMID:31289371|PMID:31395954|PMID:31501239|PMID:31564432|PMID:31689711|PMID:31729160|PMID:31965297|PMID:32185379|PMID:32804436|PMID:32851286|PMID:32870266|PMID:33142350|PMID:33184947|PMID:33502061|PMID:34202106|PMID:34837038|PMID:35047002|PMID:35904121|PMID:7651832|PMID:8073582|PMID:9536098 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1323630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0060225 3MC syndrome ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3MC syndrome PMID:21554267|PMID:28492532 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0060249 scoliosis ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0060250 idiopathic scoliosis ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 3 PMID:17436250|PMID:23883829|PMID:25741868 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:15300250|PMID:16155193|PMID:18073582|PMID:20884005|PMID:21158681|PMID:22539353|PMID:25472840|PMID:25741868|PMID:28492532 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia ISO RGD:1323630 D RGD:7240710 20180130 OMIM 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia ISO RGD:1323630 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:15300250|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17576681|PMID:18073582|PMID:18074359|PMID:18414213|PMID:18445044|PMID:18834967|PMID:20884005|PMID:21158681|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22539353|PMID:23378218|PMID:23533228|PMID:23885230|PMID:24033266|PMID:24862881|PMID:25077900|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26929907|PMID:27884173|PMID:27899157|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29304373|PMID:29419413|PMID:30311386|PMID:31042289|PMID:31965297|PMID:32870266|PMID:34837038|PMID:9536098 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:1059 intellectual disability ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25472840|PMID:25741868|PMID:28492532|PMID:30029678 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:10907 microcephaly ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:11830 myopia ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:1323630 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:13938 amenorrhea ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:18414213|PMID:21158681|PMID:22539353|PMID:24033266|PMID:25077900|PMID:25741868|PMID:28492532|PMID:32870266 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:14448 46,XY sex reversal ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY PMID:25741868|PMID:33189935 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:1459 hypothyroidism ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:1882 atrial heart septal defect ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:1921 Klinefelter syndrome ISO RGD:1323630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:15300250|PMID:16155193|PMID:18073582|PMID:20884005|PMID:21158681|PMID:22539353|PMID:25472840|PMID:25741868|PMID:28492532 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:3614 Kallmann syndrome ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:18414213|PMID:18445044|PMID:21158681|PMID:22461308|PMID:24033266|PMID:25077900|PMID:25741868|PMID:26467025|PMID:28475860|PMID:28492532|PMID:29304373 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:24033266|PMID:25741868|PMID:28492532|PMID:31042289 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:630 genetic disease ISO RGD:1323630 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17299439|PMID:17576681|PMID:17661815|PMID:17684005|PMID:18073582|PMID:18089695|PMID:18414213|PMID:18445044|PMID:18505430|PMID:18834967|PMID:19112063|PMID:20130577|PMID:20186815|PMID:20884005|PMID:21158681|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23849776|PMID:23883829|PMID:23885230|PMID:24033266|PMID:24840056|PMID:24862881|PMID:25077900|PMID:25356970|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26813943|PMID:27562378|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28475860|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:30311386|PMID:31042289|PMID:32870266|PMID:7651832|PMID:9326634|PMID:9536098 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:630 genetic disease ISO RGD:1323630 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10590394|PMID:14626219|PMID:15300250|PMID:15666308|PMID:16155193|PMID:16400610|PMID:16615981|PMID:16763960|PMID:17299439|PMID:17576681|PMID:17661815|PMID:17684005|PMID:18073582|PMID:18089695|PMID:18414213|PMID:18445044|PMID:18505430|PMID:18834967|PMID:19112063|PMID:20130577|PMID:20186815|PMID:20453063|PMID:20624498|PMID:20884005|PMID:21158681|PMID:21378379|PMID:21532573|PMID:21554267|PMID:21931733|PMID:21995344|PMID:22033296|PMID:22461308|PMID:22462537|PMID:22495309|PMID:22539353|PMID:23024289|PMID:23378218|PMID:23526466|PMID:23533228|PMID:23849776|PMID:23883829|PMID:23885230|PMID:24033266|PMID:24368733|PMID:24840056|PMID:24862881|PMID:25077900|PMID:25356970|PMID:25472840|PMID:25741868|PMID:25931334|PMID:26436962|PMID:26467025|PMID:26538304|PMID:26544072|PMID:26590800|PMID:26663670|PMID:26813943|PMID:27562378|PMID:27884173|PMID:27884859|PMID:27899157|PMID:28166811|PMID:28191889|PMID:28475860|PMID:28492532|PMID:29255181|PMID:29255276|PMID:29300383|PMID:29304373|PMID:29419413|PMID:30311386|PMID:30653986|PMID:31042289|PMID:31395954|PMID:31564432|PMID:31689711|PMID:31965297|PMID:32185379|PMID:32870266|PMID:34837038|PMID:35047002|PMID:7651832|PMID:9326634|PMID:9536098 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9001575 IRIS COLOBOMA ISO RGD:1323630 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:25741868 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9002112 Wiedemann-Steiner syndrome ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9003232 Kallmann Syndrome 5 ISO RGD:1323630 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Kallmann syndrome 5 PMID:17576681|PMID:18834967|PMID:22461308|PMID:25741868|PMID:28492532|PMID:29419413|PMID:30311386|PMID:34837038|PMID:9536098 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1323630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:1323630 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:17576681|PMID:17661815|PMID:18834967|PMID:22461308|PMID:25741868|PMID:28492532|PMID:29419413|PMID:30311386|PMID:34837038|PMID:9536098 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9004538 Hearing Loss ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 8863582 Chd7 chromodomain helicase DNA binding protein 7 gene DOID:9008582 Developmental Disease ISO RGD:1323630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8863634 Gpc6 glypican 6 gene DOID:0060288 omodysplasia ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Omodysplasia 8863634 Gpc6 glypican 6 gene DOID:0080844 omodysplasia 1 ISO RGD:1352914 D RGD:7240710 20180130 OMIM 8863634 Gpc6 glypican 6 gene DOID:0080844 omodysplasia 1 ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive omodysplasia PMID:19481194|PMID:25741868|PMID:28492532 8863634 Gpc6 glypican 6 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8863634 Gpc6 glypican 6 gene DOID:11476 osteoporosis ISO RGD:1352914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869591 8863634 Gpc6 glypican 6 gene DOID:630 genetic disease ISO RGD:1352914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8863634 Gpc6 glypican 6 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1352914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8863634 Gpc6 glypican 6 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1352914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19481194 8863634 Gpc6 glypican 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19481194 8863651 Amz2 archaelysin family metallopeptidase 2 gene DOID:630 genetic disease ISO RGD:1605392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863651 Amz2 archaelysin family metallopeptidase 2 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1605392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 8863689 Smtn smoothelin gene DOID:0080600 COVID-19 ISO RGD:1320987 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8863689 Smtn smoothelin gene DOID:630 genetic disease ISO RGD:1320987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863730 Xab2 XPA binding protein 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1342496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8863730 Xab2 XPA binding protein 2 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1342496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8863730 Xab2 XPA binding protein 2 gene DOID:630 genetic disease ISO RGD:1342496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863753 Stc2 stanniocalcin 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1352877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097666 8863753 Stc2 stanniocalcin 2 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1352877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8863753 Stc2 stanniocalcin 2 gene DOID:289 endometriosis ISO RGD:1352877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8863753 Stc2 stanniocalcin 2 gene DOID:630 genetic disease ISO RGD:1352877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863753 Stc2 stanniocalcin 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352877 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8863753 Stc2 stanniocalcin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:621777 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:15485913|REF_RGD_ID:2324700 8863753 Stc2 stanniocalcin 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621777 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18959458|REF_RGD_ID:2313895 8863753 Stc2 stanniocalcin 2 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1352877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8863753 Stc2 stanniocalcin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1352877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18492817 8863761 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:0060346 Native American myopathy ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy PMID:24033266|PMID:25741868|PMID:28492532 8863761 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:0080690 RASopathy ISO RGD:1312856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8863761 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:14219 renal tubular acidosis ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:12414817|PMID:25741868|PMID:29311258|PMID:31959358 8863761 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:14219 renal tubular acidosis susceptibility ISO RGD:1312856 D RGD:9068941 20200609 RGD DNA:nonsense,deletion,splice-site PMID:10973252|REF_RGD_ID:1599383 8863761 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8863761 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:630 genetic disease ISO RGD:1312856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8863761 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:1312856 D RGD:7240710 20180130 OMIM 8863761 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:1312856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive | ClinVar Annotator: match by term: RTA, distal, autosomal recessive | ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss PMID:10973252|PMID:12414817|PMID:16611712|PMID:17576681|PMID:18632794|PMID:19364879|PMID:23754897|PMID:24033266|PMID:24252324|PMID:25741868|PMID:26208211|PMID:27247958|PMID:28188436|PMID:28492532|PMID:29024829|PMID:29202719|PMID:29311258|PMID:29398133|PMID:29627839|PMID:30230413|PMID:31589614|PMID:31738409|PMID:31959358|PMID:32613277|PMID:34159584|PMID:35738466|PMID:9536098 8863761 Atp6v0a4 ATPase H+ transporting V0 subunit a4 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1312856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:12414817|PMID:25741868|PMID:29311258|PMID:31959358 8863795 Fam53b family with sequence similarity 53 member B gene DOID:630 genetic disease ISO RGD:1350576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863844 Pcnx1 pecanex 1 gene DOID:10283 prostate cancer ISO RGD:1352404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8863844 Pcnx1 pecanex 1 gene DOID:630 genetic disease ISO RGD:1352404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863893 Ythdc1 YTH N6-methyladenosine RNA binding protein C1 gene DOID:630 genetic disease ISO RGD:732940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863922 Dusp26 dual specificity phosphatase 26 gene DOID:630 genetic disease ISO RGD:1604602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863930 Fndc1 fibronectin type III domain containing 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1321663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8863930 Fndc1 fibronectin type III domain containing 1 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1321663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 8863930 Fndc1 fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1321663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863957 Atp6v0b ATPase H+ transporting V0 subunit b gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 8863957 Atp6v0b ATPase H+ transporting V0 subunit b gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1317997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8863957 Atp6v0b ATPase H+ transporting V0 subunit b gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 8863957 Atp6v0b ATPase H+ transporting V0 subunit b gene DOID:630 genetic disease ISO RGD:1317997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863978 CUNH3orf84 chromosome unknown C3orf84 homolog gene DOID:0060852 Pierson syndrome ISO RGD:7254257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 8863978 CUNH3orf84 chromosome unknown C3orf84 homolog gene DOID:630 genetic disease ISO RGD:7254257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863978 CUNH3orf84 chromosome unknown C3orf84 homolog gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:7254257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8863986 Frmd3 FERM domain containing 3 gene DOID:630 genetic disease ISO RGD:1312459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8863986 Frmd3 FERM domain containing 3 gene DOID:9001341 Chloracne ISO RGD:1312459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8864025 Vps36 vacuolar protein sorting 36 homolog gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1320260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8864025 Vps36 vacuolar protein sorting 36 homolog gene DOID:1059 intellectual disability ISO RGD:1320260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8864025 Vps36 vacuolar protein sorting 36 homolog gene DOID:630 genetic disease ISO RGD:1320260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864043 Fbxl8 F-box and leucine rich repeat protein 8 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1352579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8864043 Fbxl8 F-box and leucine rich repeat protein 8 gene DOID:0110255 cataract 5 multiple types ISO RGD:1352579 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8864043 Fbxl8 F-box and leucine rich repeat protein 8 gene DOID:630 genetic disease ISO RGD:1352579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864106 Nav1 neuron navigator 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1315590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8864106 Nav1 neuron navigator 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1315590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8864106 Nav1 neuron navigator 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8864106 Nav1 neuron navigator 1 gene DOID:630 genetic disease ISO RGD:1315590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864106 Nav1 neuron navigator 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315590 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8864106 Nav1 neuron navigator 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8864151 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:732798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8864151 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0111043 glycogen storage disease IXC ISO RGD:732798 D RGD:7240710 20180130 OMIM 8864151 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0111043 glycogen storage disease IXC ISO RGD:732798 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GSD IXc | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc PMID:10905889|PMID:12930917|PMID:16199547|PMID:17576681|PMID:17689125|PMID:21646031|PMID:22899091|PMID:24102521|PMID:24389071|PMID:25266922|PMID:2558039|PMID:25741868|PMID:27207549|PMID:28492532|PMID:29360628|PMID:31508908|PMID:32697758|PMID:35257483|PMID:35549678|PMID:35834487|PMID:6962066|PMID:7562285|PMID:8896567|PMID:9384616|PMID:9536098 8864151 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:732798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 8864151 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:2747 glycogen storage disease ISO RGD:620024 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D215N (rat) PMID:8896567|REF_RGD_ID:737724 8864151 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:2747 glycogen storage disease ISO RGD:732798 D RGD:9068941 20200609 RGD DNA:insertion, missense mutations:multiple (human) PMID:8896567|REF_RGD_ID:737724 8864151 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:5082 liver cirrhosis ISO RGD:732798 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutation (human) PMID:9384616|REF_RGD_ID:737725 8864151 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:630 genetic disease ISO RGD:732798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8864151 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:9000784 Fibrosis ISO RGD:732798 D RGD:9068941 20200609 RGD associated with Glycogen Storage Disease Type Ix;DNA:mutations:multiple (human) PMID:9384616|REF_RGD_ID:737725 8864151 Phkg2 phosphorylase kinase catalytic subunit gamma 2 gene DOID:9000866 Mauriac Syndrome ISO RGD:732798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mauriac syndrome PMID:27207549|PMID:28492532 8864176 Tmem239 transmembrane protein 239 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:5488169 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8864176 Tmem239 transmembrane protein 239 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:5488169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8864176 Tmem239 transmembrane protein 239 gene DOID:630 genetic disease ISO RGD:5488169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864182 Ppp1r21 protein phosphatase 1 regulatory subunit 21 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1605582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 8864182 Ppp1r21 protein phosphatase 1 regulatory subunit 21 gene DOID:630 genetic disease ISO RGD:1605582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864182 Ppp1r21 protein phosphatase 1 regulatory subunit 21 gene DOID:9002752 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES ISO RGD:1605582 D RGD:7240710 20210825 OMIM 8864182 Ppp1r21 protein phosphatase 1 regulatory subunit 21 gene DOID:9002752 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES ISO RGD:1605582 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities PMID:25741868|PMID:28940097|PMID:29808498|PMID:30520571|PMID:32985083 8864182 Ppp1r21 protein phosphatase 1 regulatory subunit 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 8864207 Klhl42 kelch like family member 42 gene DOID:630 genetic disease ISO RGD:1348247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864242 Srpx2 sushi repeat containing protein X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8864242 Srpx2 sushi repeat containing protein X-linked 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 8864242 Srpx2 sushi repeat containing protein X-linked 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8864242 Srpx2 sushi repeat containing protein X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1350450 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:28492532|PMID:30208311 8864242 Srpx2 sushi repeat containing protein X-linked 2 gene DOID:630 genetic disease ISO RGD:1350450 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8864242 Srpx2 sushi repeat containing protein X-linked 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350450 D RGD:7240710 20180130 OMIM 8864242 Srpx2 sushi repeat containing protein X-linked 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition PMID:16199547|PMID:16497722|PMID:18718938|PMID:23352160|PMID:23831613|PMID:23871722|PMID:23933820|PMID:24995671|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532 8864262 Gprc5d G protein-coupled receptor class C group 5 member D gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1344418 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8864262 Gprc5d G protein-coupled receptor class C group 5 member D gene DOID:630 genetic disease ISO RGD:1344418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864288 Ociad1 OCIA domain containing 1 gene DOID:630 genetic disease ISO RGD:1351024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864288 Ociad1 OCIA domain containing 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8864314 Usp22 ubiquitin specific peptidase 22 gene DOID:630 genetic disease ISO RGD:1321210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864349 Rhpn2 rhophilin Rho GTPase binding protein 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8864349 Rhpn2 rhophilin Rho GTPase binding protein 2 gene DOID:630 genetic disease ISO RGD:1318093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864349 Rhpn2 rhophilin Rho GTPase binding protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19011631 8864349 Rhpn2 rhophilin Rho GTPase binding protein 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1318093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 8864367 Ankrd23 ankyrin repeat domain 23 gene DOID:1059 intellectual disability ISO RGD:1321281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8864367 Ankrd23 ankyrin repeat domain 23 gene DOID:5419 schizophrenia ISO RGD:1321281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8864367 Ankrd23 ankyrin repeat domain 23 gene DOID:6000 congestive heart failure ISO RGD:1321281 D RGD:9068941 20200609 RGD associated with Cardiomyopathy, Congestive PMID:15238456|REF_RGD_ID:2314858 8864367 Ankrd23 ankyrin repeat domain 23 gene DOID:630 genetic disease ISO RGD:1321281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864367 Ankrd23 ankyrin repeat domain 23 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1310398 D RGD:9068941 20200609 RGD RNA:altered expression:heart, brown adipose tissue, skeletal muscle tissue PMID:12456686|REF_RGD_ID:2314859 8864367 Ankrd23 ankyrin repeat domain 23 gene DOID:9775 diastolic heart failure ISO RGD:1321281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8864384 C1d C1D nuclear receptor corepressor gene DOID:630 genetic disease ISO RGD:1607075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864397 Gnl3 G protein nucleolar 3 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1606313 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8864397 Gnl3 G protein nucleolar 3 gene DOID:630 genetic disease ISO RGD:1606313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864402 C1galt1c1l C1GALT1 specific chaperone 1 like gene DOID:630 genetic disease ISO RGD:9999358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864407 C1galt1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:732029 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8864407 C1galt1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:732029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864422 Safb scaffold attachment factor B gene DOID:630 genetic disease ISO RGD:733074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864466 Gpr17 G protein-coupled receptor 17 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1347471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:25741868|PMID:28492532 8864466 Gpr17 G protein-coupled receptor 17 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1347471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 8864466 Gpr17 G protein-coupled receptor 17 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1347471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8864466 Gpr17 G protein-coupled receptor 17 gene DOID:3454 brain infarction ISO RGD:1347471 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18974869 8864466 Gpr17 G protein-coupled receptor 17 gene DOID:630 genetic disease ISO RGD:1347471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864466 Gpr17 G protein-coupled receptor 17 gene DOID:9000808 Hypercholesterolemia ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 8864466 Gpr17 G protein-coupled receptor 17 gene DOID:9004581 Pediatric Obesity ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 8864466 Gpr17 G protein-coupled receptor 17 gene DOID:9006646 Metabolic Syndrome ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 8864466 Gpr17 G protein-coupled receptor 17 gene DOID:9007692 Insulin Resistance ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 8864466 Gpr17 G protein-coupled receptor 17 gene DOID:9970 obesity ISO RGD:1347471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34144038 8864479 Celf6 CUGBP Elav-like family member 6 gene DOID:2717 Bloom syndrome ISO RGD:1321359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8864479 Celf6 CUGBP Elav-like family member 6 gene DOID:3320 Tay-Sachs disease ISO RGD:1321359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8864479 Celf6 CUGBP Elav-like family member 6 gene DOID:630 genetic disease ISO RGD:1321359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864479 Celf6 CUGBP Elav-like family member 6 gene DOID:9256 colorectal cancer ISO RGD:1321359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8864507 Elmod1 ELMO domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1349956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8864507 Elmod1 ELMO domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1349956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8864507 Elmod1 ELMO domain containing 1 gene DOID:630 genetic disease ISO RGD:1349956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864507 Elmod1 ELMO domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8864543 Eif4a2 eukaryotic translation initiation factor 4A2 gene DOID:0060575 3MC syndrome 1 ISO RGD:1319448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 8864543 Eif4a2 eukaryotic translation initiation factor 4A2 gene DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay ISO RGD:1319448 D RGD:7240710 20230920 OMIM 8864543 Eif4a2 eukaryotic translation initiation factor 4A2 gene DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay ISO RGD:1319448 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures PMID:25741868|PMID:36528028 8864543 Eif4a2 eukaryotic translation initiation factor 4A2 gene DOID:630 genetic disease ISO RGD:1319448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864543 Eif4a2 eukaryotic translation initiation factor 4A2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 8864543 Eif4a2 eukaryotic translation initiation factor 4A2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319448 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:36528028 8864559 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1349418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 8864559 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8864559 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:0112278 primary ovarian insufficiency 19 ISO RGD:1349418 D RGD:7240710 20210414 OMIM 8864559 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:0112278 primary ovarian insufficiency 19 ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 19 PMID:25741868|PMID:32845237 8864559 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:12849 autistic disorder ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8864559 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:630 genetic disease ISO RGD:1349418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864559 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1349418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8864559 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8864559 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:9263 homocystinuria ISO RGD:1349418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8864559 Hsf2bp heat shock transcription factor 2 binding protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1349418 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8864604 Folh1b Putative N-acetylated-alpha-linked acidic dipeptidase gene DOID:1059 intellectual disability ISO RGD:1601813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8864604 Folh1b Putative N-acetylated-alpha-linked acidic dipeptidase gene DOID:630 genetic disease ISO RGD:1601813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864639 Eva1b eva-1 homolog B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8864639 Eva1b eva-1 homolog B gene DOID:630 genetic disease ISO RGD:1602695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864651 Rnf26 ring finger protein 26 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8864651 Rnf26 ring finger protein 26 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8864651 Rnf26 ring finger protein 26 gene DOID:0080690 RASopathy ISO RGD:1314288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8864651 Rnf26 ring finger protein 26 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8864651 Rnf26 ring finger protein 26 gene DOID:0111971 immunodeficiency 18 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8864651 Rnf26 ring finger protein 26 gene DOID:0111972 immunodeficiency 19 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8864651 Rnf26 ring finger protein 26 gene DOID:0111973 immunodeficiency 17 ISO RGD:1314288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8864651 Rnf26 ring finger protein 26 gene DOID:5419 schizophrenia ISO RGD:1314288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8864651 Rnf26 ring finger protein 26 gene DOID:630 genetic disease ISO RGD:1314288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864651 Rnf26 ring finger protein 26 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1314288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8864651 Rnf26 ring finger protein 26 gene DOID:9007661 Dwarfism ISO RGD:1314288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8864656 Ttll7 tubulin tyrosine ligase like 7 gene DOID:630 genetic disease ISO RGD:1605943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864705 Zbtb5 zinc finger and BTB domain containing 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8864705 Zbtb5 zinc finger and BTB domain containing 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8864705 Zbtb5 zinc finger and BTB domain containing 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8864705 Zbtb5 zinc finger and BTB domain containing 5 gene DOID:630 genetic disease ISO RGD:1316525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864705 Zbtb5 zinc finger and BTB domain containing 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316525 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8864705 Zbtb5 zinc finger and BTB domain containing 5 gene DOID:9870 galactosemia ISO RGD:1316525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8864723 Cct6b chaperonin containing TCP1 subunit 6B gene DOID:630 genetic disease ISO RGD:1345746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864723 Cct6b chaperonin containing TCP1 subunit 6B gene DOID:8584 Burkitt lymphoma ISO RGD:1345746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 8864723 Cct6b chaperonin containing TCP1 subunit 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8864750 Trappc11 trafficking protein particle complex subunit 11 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1604800 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:23830518|PMID:26322222|PMID:28327206|PMID:28492532|PMID:30105108 8864750 Trappc11 trafficking protein particle complex subunit 11 gene DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S ISO RGD:1604800 D RGD:7240710 20180130 OMIM 8864750 Trappc11 trafficking protein particle complex subunit 11 gene DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S ISO RGD:1604800 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2S | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2S | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18 PMID:16199547|PMID:17576681|PMID:23830518|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26322222|PMID:26467025|PMID:26912795|PMID:27707803|PMID:27862579|PMID:28327206|PMID:28482373|PMID:28492532|PMID:29158550|PMID:29590070|PMID:29855340|PMID:30105108|PMID:31575891|PMID:34648194|PMID:9536098 8864750 Trappc11 trafficking protein particle complex subunit 11 gene DOID:1059 intellectual disability ISO RGD:1604800 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:28492532 8864750 Trappc11 trafficking protein particle complex subunit 11 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1604800 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:23830518|PMID:24033266|PMID:26322222|PMID:27707803|PMID:28492532|PMID:30105108 8864750 Trappc11 trafficking protein particle complex subunit 11 gene DOID:423 myopathy ISO RGD:1604800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 8864750 Trappc11 trafficking protein particle complex subunit 11 gene DOID:630 genetic disease ISO RGD:1604800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8864750 Trappc11 trafficking protein particle complex subunit 11 gene DOID:9007661 Dwarfism ISO RGD:1604800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 8864750 Trappc11 trafficking protein particle complex subunit 11 gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1604800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:17576681|PMID:23830518|PMID:25741868|PMID:28492532|PMID:29158550|PMID:31575891|PMID:9536098 8864784 Mrpl3 mitochondrial ribosomal protein L3 gene DOID:0111472 combined oxidative phosphorylation deficiency 9 ISO RGD:1314981 D RGD:7240710 20180130 OMIM 8864784 Mrpl3 mitochondrial ribosomal protein L3 gene DOID:0111472 combined oxidative phosphorylation deficiency 9 ISO RGD:1314981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9 PMID:21786366|PMID:25741868|PMID:27815843|PMID:28492532 8864784 Mrpl3 mitochondrial ribosomal protein L3 gene DOID:630 genetic disease ISO RGD:1314981 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8864784 Mrpl3 mitochondrial ribosomal protein L3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1314981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8864784 Mrpl3 mitochondrial ribosomal protein L3 gene DOID:9270 alkaptonuria ISO RGD:1314981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8864784 Mrpl3 mitochondrial ribosomal protein L3 gene DOID:936 brain disease ISO RGD:1314981 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8864807 Dhx34 DExH-box helicase 34 gene DOID:0080322 polycystic kidney disease ISO RGD:1605422 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:31256877 8864807 Dhx34 DExH-box helicase 34 gene DOID:1059 intellectual disability ISO RGD:1605422 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual disability 8864807 Dhx34 DExH-box helicase 34 gene DOID:1826 epilepsy ISO RGD:1605422 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:31256877 8864807 Dhx34 DExH-box helicase 34 gene DOID:630 genetic disease ISO RGD:1605422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864807 Dhx34 DExH-box helicase 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605422 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877 8864807 Dhx34 DExH-box helicase 34 gene DOID:9007661 Dwarfism ISO RGD:1605422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:31256877 8864831 Stk38l serine/threonine kinase 38 like gene DOID:630 genetic disease ISO RGD:1353936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864831 Stk38l serine/threonine kinase 38 like gene DOID:8466 retinal degeneration ISO RGD:12346036 D RGD:9068941 20230622 OMIA Early retinal degeneration PMID:10409424|PMID:12909371|PMID:20887780|PMID:21980341|PMID:22065099|PMID:24367709|PMID:24581223|PMID:2558906|PMID:30050836|PMID:30135513|PMID:3496233|PMID:8603863|PMID:8654508 8864851 Rpia ribose 5-phosphate isomerase A gene DOID:630 genetic disease ISO RGD:1322805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8864851 Rpia ribose 5-phosphate isomerase A gene DOID:9005223 Ribose 5-Phosphate Isomerase Deficiency ISO RGD:1322805 D RGD:7240710 20180130 OMIM 8864851 Rpia ribose 5-phosphate isomerase A gene DOID:9005223 Ribose 5-Phosphate Isomerase Deficiency ISO RGD:1322805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of ribose-5-phosphate isomerase PMID:10589548|PMID:14988808|PMID:20499043|PMID:25741868|PMID:28492532|PMID:30088433|PMID:31056085 8864865 Zp2 zona pellucida glycoprotein 2 gene DOID:630 genetic disease ISO RGD:735363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864865 Zp2 zona pellucida glycoprotein 2 gene DOID:9001599 Oocyte/Zygote/Embryo Maturation Arrest 6 ISO RGD:735363 D RGD:7240710 20190315 OMIM 8864865 Zp2 zona pellucida glycoprotein 2 gene DOID:9001599 Oocyte/Zygote/Embryo Maturation Arrest 6 ISO RGD:735363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 6 PMID:25741868|PMID:28971300|PMID:29895852|PMID:30810869|PMID:35211729 8864890 Sned1 sushi, nidogen and EGF like domains 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1349916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8864890 Sned1 sushi, nidogen and EGF like domains 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1349916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8864890 Sned1 sushi, nidogen and EGF like domains 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1349916 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8864890 Sned1 sushi, nidogen and EGF like domains 1 gene DOID:1059 intellectual disability ISO RGD:1349916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8864890 Sned1 sushi, nidogen and EGF like domains 1 gene DOID:630 genetic disease ISO RGD:1349916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864890 Sned1 sushi, nidogen and EGF like domains 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1349916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8864924 Psmc1 proteasome 26S subunit, ATPase 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:734425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8864924 Psmc1 proteasome 26S subunit, ATPase 1 gene DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ISO RGD:734425 D RGD:7240710 20221221 OMIM 8864924 Psmc1 proteasome 26S subunit, ATPase 1 gene DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ISO RGD:734425 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss PMID:35861243 8864924 Psmc1 proteasome 26S subunit, ATPase 1 gene DOID:10283 prostate cancer ISO RGD:734425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8864924 Psmc1 proteasome 26S subunit, ATPase 1 gene DOID:630 genetic disease ISO RGD:734425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864939 CUNH8orf58 chromosome unknown C8orf58 homolog gene DOID:630 genetic disease ISO RGD:1604880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8864939 CUNH8orf58 chromosome unknown C8orf58 homolog gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1604880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8864949 Lmf1 lipase maturation factor 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1348602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8864949 Lmf1 lipase maturation factor 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1348602 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8864949 Lmf1 lipase maturation factor 1 gene DOID:0111422 familial lipase maturation factor 1 deficiency ISO RGD:1348602 D RGD:7240710 20180130 OMIM 8864949 Lmf1 lipase maturation factor 1 gene DOID:0111422 familial lipase maturation factor 1 deficiency ISO RGD:1348602 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: LMF1-related condition | ClinVar Annotator: match by term: Lipase deficiency, combined PMID:17994020|PMID:19820022|PMID:22135386|PMID:22239554|PMID:24909692|PMID:25741868|PMID:28492532|PMID:28991257|PMID:29910226|PMID:30037590|PMID:30172716|PMID:30337590|PMID:30420299|PMID:31619059|PMID:31980526|PMID:32041611|PMID:32190547|PMID:33303402 8864949 Lmf1 lipase maturation factor 1 gene DOID:1826 epilepsy ISO RGD:1348602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8864949 Lmf1 lipase maturation factor 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1348602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8864949 Lmf1 lipase maturation factor 1 gene DOID:630 genetic disease ISO RGD:1348602 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29214790|PMID:30037590|PMID:30420299|PMID:32115487|PMID:32190547|PMID:36613909 8864949 Lmf1 lipase maturation factor 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1348602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17994020 8864964 Tfap4 transcription factor AP-4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8864964 Tfap4 transcription factor AP-4 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1318080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8864964 Tfap4 transcription factor AP-4 gene DOID:1059 intellectual disability ISO RGD:1318080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8864964 Tfap4 transcription factor AP-4 gene DOID:1826 epilepsy ISO RGD:1318080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8864964 Tfap4 transcription factor AP-4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318080 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8864964 Tfap4 transcription factor AP-4 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1318080 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8864964 Tfap4 transcription factor AP-4 gene DOID:630 genetic disease ISO RGD:1318080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865005 Nrgn neurogranin gene DOID:0110877 holoprosencephaly 11 ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8865005 Nrgn neurogranin gene DOID:0111723 Jacobsen Syndrome ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8865005 Nrgn neurogranin gene DOID:10652 Alzheimer's disease ISO RGD:733655 D RGD:9068941 20200609 RGD PMID:9329454|REF_RGD_ID:9835394 8865005 Nrgn neurogranin gene DOID:11832 visual epilepsy ISO RGD:61833 D RGD:9068941 20200609 RGD PMID:11054811|REF_RGD_ID:9685329 8865005 Nrgn neurogranin gene DOID:1459 hypothyroidism ISO RGD:61833 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus of hippocampal formation, Ammon's horn PMID:20041985|REF_RGD_ID:9835423 8865005 Nrgn neurogranin gene DOID:1459 hypothyroidism treatment ISO RGD:61833 D RGD:9068941 20200609 RGD PMID:16004982|REF_RGD_ID:9835430 8865005 Nrgn neurogranin gene DOID:5419 schizophrenia ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8865005 Nrgn neurogranin gene DOID:630 genetic disease ISO RGD:733655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865005 Nrgn neurogranin gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:61833 D RGD:9068941 20200609 RGD PMID:17579784|REF_RGD_ID:9835426 8865005 Nrgn neurogranin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8865005 Nrgn neurogranin gene DOID:9007661 Dwarfism ISO RGD:733655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8865005 Nrgn neurogranin gene DOID:9007980 Sleep Deprivation ISO RGD:61833 D RGD:9068941 20200609 RGD PMID:7583240|REF_RGD_ID:9835425 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30165855 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:0080600 COVID-19 ISO RGD:735664 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:127 leiomyoma ISO RGD:735664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31468104 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:14320 generalized anxiety disorder severity ISO RGD:735664 D RGD:9068941 20201015 RGD protein:increased expression:serum (human) PMID:27512921|REF_RGD_ID:39938860 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:1909 melanoma severity ISO RGD:735664 D RGD:9068941 20201022 RGD protein:increased expression:skin (human) PMID:28467693|REF_RGD_ID:39939016 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:731530 D RGD:9068941 20201015 RGD protein:decreased expression:endometrium (mouse) PMID:32152908|REF_RGD_ID:39938861 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:735664 D RGD:9068941 20201029 RGD protein:increased expression:endometrium, cytoplasm (human) PMID:22520060|REF_RGD_ID:39939083 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:630 genetic disease ISO RGD:735664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:619845 D RGD:9068941 20200609 RGD PMID:22975889|REF_RGD_ID:8552988 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:735664 D RGD:9068941 20230803 CTD CTD Direct Evidence: therapeutic PMID:25280432 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9005369 Hepatomegaly ISO RGD:735664 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:30641053 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:735664 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:30641053 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9007204 Dysbiosis ameliorates ISO RGD:619845 D RGD:9068941 20220210 RGD PMID:30354811|REF_RGD_ID:39939000 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:735664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21984484 8865016 Gper1 G protein-coupled estrogen receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24440569 8865045 Actr1a actin related protein 1A gene DOID:14250 Down syndrome ISO RGD:1315973 D RGD:9068941 20200609 RGD protein:decreased expression:cortex PMID:11829462|REF_RGD_ID:13831340 8865045 Actr1a actin related protein 1A gene DOID:219 colon cancer ISO RGD:1315973 D RGD:9068941 20200609 RGD PMID:26422100|REF_RGD_ID:13831341 8865045 Actr1a actin related protein 1A gene DOID:630 genetic disease ISO RGD:1315973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865060 Wdr41 WD repeat domain 41 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1314938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 8865060 Wdr41 WD repeat domain 41 gene DOID:630 genetic disease ISO RGD:1314938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865060 Wdr41 WD repeat domain 41 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8865081 Insr insulin receptor gene DOID:0050470 Donohue syndrome ISO RGD:69029 D RGD:7240710 20180130 OMIM 8865081 Insr insulin receptor gene DOID:0050470 Donohue syndrome ISO RGD:69029 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Donohue syndrome | ClinVar Annotator: match by term: Leprechaunism | ClinVar Annotator: match by term: Leprechaunism syndrome PMID:10084586|PMID:10933564|PMID:11463381|PMID:12023989|PMID:12970295|PMID:1315125|PMID:1607067|PMID:1657953|PMID:1730625|PMID:19135752|PMID:2002058|PMID:2040394|PMID:2211730|PMID:22775283|PMID:2300553|PMID:2365819|PMID:24033266|PMID:24498630|PMID:2479553|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:2834824|PMID:28492532|PMID:28765322|PMID:29369573|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3280314|PMID:7042734|PMID:7657032|PMID:7693131|PMID:7815442|PMID:8101305|PMID:8188715|PMID:8257688|PMID:8314008|PMID:8326490|PMID:8419945|PMID:8432414|PMID:8900242 8865081 Insr insulin receptor gene DOID:0050700 cardiomyopathy ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:11877471|REF_RGD_ID:1302524 8865081 Insr insulin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:69029 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8865081 Insr insulin receptor gene DOID:0060071 pre-malignant neoplasm ISO RGD:2917 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular PMID:21411721|REF_RGD_ID:10403043 8865081 Insr insulin receptor gene DOID:0060346 Native American myopathy ISO RGD:69029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia PMID:10084586|PMID:11463381|PMID:2040394|PMID:25741868|PMID:27896077|PMID:28492532|PMID:8432414|PMID:8900242 8865081 Insr insulin receptor gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:69029 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:15161766|PMID:19135752|PMID:2002058|PMID:25741868|PMID:27896077|PMID:28492532|PMID:7042734|PMID:8288049 8865081 Insr insulin receptor gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:15161766|PMID:19135752|PMID:2002058|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:30663027|PMID:7042734|PMID:8288049 8865081 Insr insulin receptor gene DOID:0070220 familial hyperinsulinemic hypoglycemia 5 ISO RGD:69029 D RGD:7240710 20180130 OMIM 8865081 Insr insulin receptor gene DOID:0070220 familial hyperinsulinemic hypoglycemia 5 ISO RGD:69029 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 | ClinVar Annotator: match by term: Hyperinsulinism due to INSR deficiency PMID:15161766|PMID:19135752|PMID:2002058|PMID:2170418|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:30663027|PMID:7042734|PMID:8288049 8865081 Insr insulin receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:10813 D RGD:9068941 20200609 RGD DNA:deletion:cds: (codon 306, exon 4) (mouse) PMID:28468951|REF_RGD_ID:14700929 8865081 Insr insulin receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:2917 D RGD:9068941 20200609 RGD DNA:deletion:cds:codon 306 in exon 4 (mouse) PMID:28468951|REF_RGD_ID:14700929 8865081 Insr insulin receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:29325294|REF_RGD_ID:14700932 8865081 Insr insulin receptor gene DOID:0080490 mucolipidosis type IV ISO RGD:69029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8865081 Insr insulin receptor gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69029 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084586|PMID:11463381|PMID:1607076|PMID:2040394|PMID:25741868|PMID:27896077|PMID:28492532|PMID:31989990|PMID:7814014|PMID:8432414|PMID:8900242 8865081 Insr insulin receptor gene DOID:10485 esophageal atresia ISO RGD:69029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8865081 Insr insulin receptor gene DOID:10603 glucose intolerance ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:10949030|REF_RGD_ID:1302523 8865081 Insr insulin receptor gene DOID:10603 glucose intolerance ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10949030 8865081 Insr insulin receptor gene DOID:10605 short bowel syndrome treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:19847442|REF_RGD_ID:10403044 8865081 Insr insulin receptor gene DOID:10652 Alzheimer's disease ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:16627931|REF_RGD_ID:5509963 8865081 Insr insulin receptor gene DOID:10652 Alzheimer's disease ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24055495 8865081 Insr insulin receptor gene DOID:10652 Alzheimer's disease ISO RGD:69029 D RGD:9068941 20200609 RGD protein:altered localization:brain, neuron PMID:18479783|REF_RGD_ID:10045894 8865081 Insr insulin receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:23011726|REF_RGD_ID:10403036 8865081 Insr insulin receptor gene DOID:11712 lipoatrophic diabetes mellitus ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:14722613|REF_RGD_ID:1302525 8865081 Insr insulin receptor gene DOID:11714 gestational diabetes ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:22241286|REF_RGD_ID:10046048 8865081 Insr insulin receptor gene DOID:11714 gestational diabetes ISO RGD:69029 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta (human) PMID:19179458|REF_RGD_ID:2307336 8865081 Insr insulin receptor gene DOID:12217 Lewy body dementia ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8865081 Insr insulin receptor gene DOID:13413 hepatic encephalopathy ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, cerebral cortex (rat) PMID:28505381|REF_RGD_ID:14700777 8865081 Insr insulin receptor gene DOID:14330 Parkinson's disease ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8865081 Insr insulin receptor gene DOID:1612 breast cancer ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:tumor:four-fold higher vs normal breast tissue PMID:8518410|REF_RGD_ID:2290465 8865081 Insr insulin receptor gene DOID:1612 breast cancer severity ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:tumor:higher expression associated with favorable prognostic markers and increased disease-free survival (P=0.027) PMID:17221153|REF_RGD_ID:2290447 8865081 Insr insulin receptor gene DOID:1837 diabetic ketoacidosis ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:15254588|REF_RGD_ID:1302526 8865081 Insr insulin receptor gene DOID:2018 hyperinsulinism ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:10949030|REF_RGD_ID:1302523 8865081 Insr insulin receptor gene DOID:2018 hyperinsulinism ISO RGD:10813 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P1195L (mouse) PMID:21549686|REF_RGD_ID:10403034 8865081 Insr insulin receptor gene DOID:2018 hyperinsulinism ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10949030|PMID:18411068 8865081 Insr insulin receptor gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:69029 D RGD:9068941 20200609 RGD PMID:26452103|REF_RGD_ID:13504753 8865081 Insr insulin receptor gene DOID:303 substance-related disorder ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8865081 Insr insulin receptor gene DOID:3594 choriocarcinoma disease_progression ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR PMID:17556377|REF_RGD_ID:2290454 8865081 Insr insulin receptor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21433279 8865081 Insr insulin receptor gene DOID:4195 hyperglycemia ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056790 8865081 Insr insulin receptor gene DOID:4440 seminoma ISO RGD:69029 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:isoform B PMID:15967097|REF_RGD_ID:2290460 8865081 Insr insulin receptor gene DOID:4450 renal cell carcinoma ISO RGD:69029 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:isoform A PMID:15753986|REF_RGD_ID:2290462 8865081 Insr insulin receptor gene DOID:630 genetic disease ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:2211730|PMID:25741868|PMID:26874853|PMID:27840822|PMID:28492532|PMID:2983222|PMID:30663027|PMID:8257688 8865081 Insr insulin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:2917 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:29610518|REF_RGD_ID:14700930 8865081 Insr insulin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (human, rat) PMID:23633480|REF_RGD_ID:9685423 8865081 Insr insulin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:69029 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (human, rat) PMID:23633480|REF_RGD_ID:9685423 8865081 Insr insulin receptor gene DOID:784 chronic kidney disease ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:aorta PMID:22942179|REF_RGD_ID:7207055 8865081 Insr insulin receptor gene DOID:811 lipodystrophy ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:14722613|REF_RGD_ID:1302525 8865081 Insr insulin receptor gene DOID:850 lung disease ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20438933|PMID:21433279 8865081 Insr insulin receptor gene DOID:8947 diabetic retinopathy ISO RGD:10813 D RGD:9068941 20220825 MouseDO 8865081 Insr insulin receptor gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:2917 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:cytoplasm,liver (rat) PMID:15520221|REF_RGD_ID:2306052 8865081 Insr insulin receptor gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:69029 D RGD:7240710 20180130 OMIM 8865081 Insr insulin receptor gene DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans ISO RGD:69029 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A | ClinVar Annotator: match by term: IRAN, TYPE A PMID:10084586|PMID:10933564|PMID:11463381|PMID:13302174|PMID:15161766|PMID:1644241|PMID:19135752|PMID:1963473|PMID:1971035|PMID:2002058|PMID:2040394|PMID:2121734|PMID:2203761|PMID:2211730|PMID:22775283|PMID:2365819|PMID:24033266|PMID:2460770|PMID:2544997|PMID:2544998|PMID:25741868|PMID:2662406|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:2859121|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3283938|PMID:3384956|PMID:3510919|PMID:6339538|PMID:7042734|PMID:7657032|PMID:8096518|PMID:8257688|PMID:8288049|PMID:8314008|PMID:8432414|PMID:8900242 8865081 Insr insulin receptor gene DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES ISO RGD:69029 D RGD:7240710 20190918 OMIM 8865081 Insr insulin receptor gene DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mendenhall Syndrome | ClinVar Annotator: match by term: Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities | ClinVar Annotator: match by term: Rabson-Mendenhall syndrome PMID:10084586|PMID:10933564|PMID:11463381|PMID:19135752|PMID:2002058|PMID:2040394|PMID:2121734|PMID:2211730|PMID:2233914|PMID:22775283|PMID:2365819|PMID:23969187|PMID:24033266|PMID:25358339|PMID:25741868|PMID:26691667|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:29082893|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3721065|PMID:7042734|PMID:7657032|PMID:8257688|PMID:8314008|PMID:8432414|PMID:8900242|PMID:9249867|PMID:9449692 8865081 Insr insulin receptor gene DOID:9002211 Hyperalgesia ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18331706 8865081 Insr insulin receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:10813 D RGD:9068941 20200609 RGD associated with Diabetic Neuropathies PMID:23511693|REF_RGD_ID:10403050 8865081 Insr insulin receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:LNCaP tumors:increased tumor size and INSR levels in human tumor cells injected subcutaneously into mice on a high carbohydrate-high fat diet PMID:18042933|REF_RGD_ID:2290446 8865081 Insr insulin receptor gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:69029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 8865081 Insr insulin receptor gene DOID:9004086 AIDS Dementia Complex severity ISO RGD:69029 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, plasma PMID:22629383|REF_RGD_ID:10403033 8865081 Insr insulin receptor gene DOID:9004989 Protein Deficiency treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:19880292|REF_RGD_ID:4107735 8865081 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, adipose tissue (rat) PMID:18638371|REF_RGD_ID:2307025 8865081 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2917 D RGD:9068941 20200609 RGD protein:altered activity:liver plasma membrane PMID:2180315|REF_RGD_ID:14981592 8865081 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte (rat) PMID:18376071|REF_RGD_ID:2307339 8865081 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17855644|REF_RGD_ID:2290475 8865081 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138235|PMID:9243097 8865081 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus disease_progression ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA:increased expression:liver nuclei, liver cell membrane (rat) PMID:1280238|REF_RGD_ID:15036814 8865081 Insr insulin receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69029 D RGD:9068941 20200609 RGD PMID:23874448|REF_RGD_ID:10403045 8865081 Insr insulin receptor gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:10813 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8865081 Insr insulin receptor gene DOID:9007692 Insulin Resistance ISO RGD:69029 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Insulin resistance | ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:10084586|PMID:10933564|PMID:11463381|PMID:1314826|PMID:13302174|PMID:15161766|PMID:1644241|PMID:1890161|PMID:19135752|PMID:1963473|PMID:1971035|PMID:2002058|PMID:2040394|PMID:2121734|PMID:2203761|PMID:2211730|PMID:22775283|PMID:2365819|PMID:24033266|PMID:2460770|PMID:2544997|PMID:2544998|PMID:25741868|PMID:2662406|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:2859121|PMID:2983222|PMID:30663027|PMID:31989990|PMID:3283938|PMID:3384956|PMID:3510919|PMID:6339538|PMID:7042734|PMID:7657032|PMID:8096518|PMID:8202531|PMID:8257688|PMID:8288049|PMID:8314008|PMID:8432414|PMID:8900242 8865081 Insr insulin receptor gene DOID:9007692 Insulin Resistance disease_progression ISO RGD:2917 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:26300412|REF_RGD_ID:11529553 8865081 Insr insulin receptor gene DOID:9007692 Insulin Resistance treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:23538485|REF_RGD_ID:10403037 8865081 Insr insulin receptor gene DOID:9351 diabetes mellitus ISO RGD:69029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10084586|PMID:11463381|PMID:2040394|PMID:2211730|PMID:25741868|PMID:26874853|PMID:27840822|PMID:27896077|PMID:28492532|PMID:2983222|PMID:30663027|PMID:8257688|PMID:8432414|PMID:8900242 8865081 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69029 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084586|PMID:11463381|PMID:1607076|PMID:1845971|PMID:2040394|PMID:25741868|PMID:27896077|PMID:28492532|PMID:2884728|PMID:31989990|PMID:4413914|PMID:7814014|PMID:8432414|PMID:8900242 8865081 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:10813 D RGD:9068941 20200609 RGD PMID:19224872|REF_RGD_ID:2307335 8865081 Insr insulin receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:19251743|PMID:23700236|REF_RGD_ID:10403046|REF_RGD_ID:2307334 8865081 Insr insulin receptor gene DOID:9452 steatotic liver disease ISO RGD:2917 D RGD:9068941 20200609 RGD protein:decreased phosphorylation: liver (rat) PMID:22546076|REF_RGD_ID:14700935 8865081 Insr insulin receptor gene DOID:9452 steatotic liver disease treatment ISO RGD:2917 D RGD:9068941 20200609 RGD PMID:25160038|REF_RGD_ID:14700926 8865081 Insr insulin receptor gene DOID:9452 steatotic liver disease treatment ISO RGD:2917 D RGD:9068941 20200609 RGD associated with obesity;human gene in mouse model PMID:30642871|REF_RGD_ID:14701028 8865081 Insr insulin receptor gene DOID:9743 diabetic neuropathy ISO RGD:2917 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased phosphorylation:sciatic nerve PMID:18331706|REF_RGD_ID:2307344 8865081 Insr insulin receptor gene DOID:9743 diabetic neuropathy ISO RGD:69029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18331706 8865108 Sec23b SEC23 homolog B, COPII coat complex component gene DOID:0080600 COVID-19 ISO RGD:1321756 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8865108 Sec23b SEC23 homolog B, COPII coat complex component gene DOID:0081003 Cowden syndrome 7 ISO RGD:1321756 D RGD:7240710 20190315 OMIM 8865108 Sec23b SEC23 homolog B, COPII coat complex component gene DOID:0081003 Cowden syndrome 7 ISO RGD:1321756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cowden syndrome 7 PMID:16199547|PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:22208203|PMID:22428539|PMID:25044164|PMID:25741868|PMID:26522472|PMID:28492532 8865108 Sec23b SEC23 homolog B, COPII coat complex component gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1321756 D RGD:7240710 20191009 OMIM 8865108 Sec23b SEC23 homolog B, COPII coat complex component gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1321756 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II | ClinVar Annotator: match by term: HEMPAS anemia PMID:16199547|PMID:17576681|PMID:19561605|PMID:19621418|PMID:20015893|PMID:20381388|PMID:20941788|PMID:21252497|PMID:21850656|PMID:22208203|PMID:22428539|PMID:23453696|PMID:23935019|PMID:24196372|PMID:24724984|PMID:24801240|PMID:25044164|PMID:25251786|PMID:25418799|PMID:25741868|PMID:25912935|PMID:26522472|PMID:27471141|PMID:28492532|PMID:28879554|PMID:29031773|PMID:29846281|PMID:29901818|PMID:30747246|PMID:32581362|PMID:32641076|PMID:33159567|PMID:34093240|PMID:34201899|PMID:9536098 8865108 Sec23b SEC23 homolog B, COPII coat complex component gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1321756 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia PMID:19561605|PMID:24033266|PMID:25044164|PMID:25741868|PMID:28492532 8865108 Sec23b SEC23 homolog B, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1321756 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8865132 Tpp2 tripeptidyl peptidase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:734318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8865132 Tpp2 tripeptidyl peptidase 2 gene DOID:14701 propionic acidemia ISO RGD:734318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8865132 Tpp2 tripeptidyl peptidase 2 gene DOID:630 genetic disease ISO RGD:734318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8865132 Tpp2 tripeptidyl peptidase 2 gene DOID:9001840 Immunodeficiency 78 with Autoimmunity and Developmental Delay ISO RGD:734318 D RGD:7240710 20210324 OMIM 8865132 Tpp2 tripeptidyl peptidase 2 gene DOID:9001840 Immunodeficiency 78 with Autoimmunity and Developmental Delay ISO RGD:734318 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Immunodeficiency 78 with autoimmunity and developmental delay PMID:25414442|PMID:25525876|PMID:25741868|PMID:28492532|PMID:30533531|PMID:33586135 8865132 Tpp2 tripeptidyl peptidase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:734318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8865132 Tpp2 tripeptidyl peptidase 2 gene DOID:9004484 Sepsis ISO RGD:621584 D RGD:9068941 20211217 RGD mRNA, protein:increased expression, increased activity:extensor digitorum longus (rat) PMID:12147224|REF_RGD_ID:634435 8865132 Tpp2 tripeptidyl peptidase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:734318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:33586135 8865132 Tpp2 tripeptidyl peptidase 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:734318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:16199547|PMID:17576681|PMID:25414442|PMID:25640679|PMID:25741868|PMID:28492532|PMID:30533531|PMID:33583942|PMID:33586135|PMID:9536098 8865178 Tm4sf1 transmembrane 4 L six family member 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1320105 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8865178 Tm4sf1 transmembrane 4 L six family member 1 gene DOID:630 genetic disease ISO RGD:1320105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865198 Agmo alkylglycerol monooxygenase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8865198 Agmo alkylglycerol monooxygenase gene DOID:630 genetic disease ISO RGD:1606863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8865214 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:731676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8865214 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:0070040 autosomal dominant intellectual developmental disorder 10 ISO RGD:731676 D RGD:7240710 20180130 OMIM 8865214 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:0070040 autosomal dominant intellectual developmental disorder 10 ISO RGD:731676 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 10 PMID:21376300|PMID:25741868 8865214 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:1825 childhood absence epilepsy ISO RGD:71095 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:somatosensory cortex, primary motor cortex PMID:18556211|REF_RGD_ID:13524553 8865214 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:1826 epilepsy ISO RGD:731676 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8865214 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:3070 high grade glioma ISO RGD:731676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma 8865214 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:630 genetic disease ISO RGD:731676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8865214 Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731676 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:68519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0060207 amyotrophic lateral sclerosis type 16 ISO RGD:68519 D RGD:7240710 20180130 OMIM 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0060207 amyotrophic lateral sclerosis type 16 ISO RGD:68519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16 PMID:21842496|PMID:24088041|PMID:25175561|PMID:25704016|PMID:25741868|PMID:26078401|PMID:26205306|PMID:26633545|PMID:27042935|PMID:27402882|PMID:27629094|PMID:27821430|PMID:28492532|PMID:28622300|PMID:28708278|PMID:29115704|PMID:30079398|PMID:31511340|PMID:31696229|PMID:32055286|PMID:32579787|PMID:33020464|PMID:33618928 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:68519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:68519 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:68519 D RGD:7240710 20180130 OMIM 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:68519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:16199547|PMID:21031579|PMID:21842496|PMID:24088041|PMID:25175561|PMID:25261976|PMID:25704016|PMID:25741868|PMID:26078401|PMID:26205306|PMID:26366463|PMID:26467025|PMID:26633545|PMID:27042935|PMID:27402882|PMID:27629094|PMID:27821430|PMID:28160950|PMID:28492532|PMID:28622300|PMID:28708278|PMID:29115704|PMID:29411640|PMID:30079398|PMID:30266269|PMID:30311446|PMID:31324122|PMID:31511340|PMID:31696229|PMID:32055286|PMID:32579787|PMID:33020464|PMID:33369814|PMID:33618928 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:10914 amnestic disorder ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12028363 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:2055 post-traumatic stress disorder treatment ISO RGD:68364 D RGD:9068941 20240104 RGD PMID:28791385|REF_RGD_ID:401940159 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24885036 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16204638 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:630 genetic disease ISO RGD:68519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21842496|PMID:25175561|PMID:25704016|PMID:26078401|PMID:26467025|PMID:27042935|PMID:27402882|PMID:27821430|PMID:28492532|PMID:28622300|PMID:28708278|PMID:29115704|PMID:31696229|PMID:32055286|PMID:33020464|PMID:33369814 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:8927 learning disability ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15451042 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15451042 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24885036 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:68519 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30661753 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12736327|PMID:16132061 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9008023 Memory Disorders ISO RGD:68519 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15451042 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:68519 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8865229 Sigmar1 sigma non-opioid intracellular receptor 1 gene DOID:9870 galactosemia ISO RGD:68519 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8865248 Acsl6 acyl-CoA synthetase long chain family member 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8865248 Acsl6 acyl-CoA synthetase long chain family member 6 gene DOID:1240 leukemia ISO RGD:1349836 D RGD:9068941 20200609 RGD DNA:translocation: :t(5;12)(q31;p13) (human) PMID:10502316|REF_RGD_ID:1599805 8865248 Acsl6 acyl-CoA synthetase long chain family member 6 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 8865248 Acsl6 acyl-CoA synthetase long chain family member 6 gene DOID:5419 schizophrenia ISO RGD:1349836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8865248 Acsl6 acyl-CoA synthetase long chain family member 6 gene DOID:630 genetic disease ISO RGD:1349836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865248 Acsl6 acyl-CoA synthetase long chain family member 6 gene DOID:670 amphetamine abuse ISO RGD:1349836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8865248 Acsl6 acyl-CoA synthetase long chain family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8865248 Acsl6 acyl-CoA synthetase long chain family member 6 gene DOID:9005372 Inflammation ISO RGD:69403 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar spinal cord (rat) PMID:14622223|REF_RGD_ID:2315920 8865248 Acsl6 acyl-CoA synthetase long chain family member 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69403 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:16428347|REF_RGD_ID:1599808 8865248 Acsl6 acyl-CoA synthetase long chain family member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8865248 Acsl6 acyl-CoA synthetase long chain family member 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349836 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8865248 Acsl6 acyl-CoA synthetase long chain family member 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1349836 D RGD:9068941 20200609 RGD DNA:translocation: :t(5;12)(q31;p13) (human) PMID:10502316|REF_RGD_ID:1599805 8865300 Pcdh18 protocadherin 18 gene DOID:630 genetic disease ISO RGD:1314160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865312 Pou1f1 POU class 1 homeobox 1 gene DOID:0060870 isolated growth hormone deficiency ISO RGD:732450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9392392 8865312 Pou1f1 POU class 1 homeobox 1 gene DOID:0111227 chromosome 3-linked frontotemporal dementia ISO RGD:732450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 PMID:28492532 8865312 Pou1f1 POU class 1 homeobox 1 gene DOID:53 pituitary gland disease ISO RGD:732450 D RGD:9068941 20200609 RGD combined piuitary hormone deficiency;DNA:point mutation:exon:R172X PMID:1302000|REF_RGD_ID:1601432 8865312 Pou1f1 POU class 1 homeobox 1 gene DOID:630 genetic disease ISO RGD:732450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30266296 8865312 Pou1f1 POU class 1 homeobox 1 gene DOID:9003666 Combined Pituitary Hormone Deficiency ISO RGD:732450 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:15928241|PMID:25741868|PMID:27541381|PMID:28492532|PMID:30266296 8865312 Pou1f1 POU class 1 homeobox 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:732450 D RGD:7240710 20180130 OMIM 8865312 Pou1f1 POU class 1 homeobox 1 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:732450 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:11297581|PMID:11924936|PMID:12629113|PMID:1271194|PMID:12904605|PMID:1302000|PMID:1472057|PMID:1509262|PMID:1509263|PMID:15928241|PMID:16263824|PMID:16968807|PMID:25741868|PMID:2634610|PMID:26467025|PMID:27541381|PMID:28492532|PMID:31755341|PMID:34815942|PMID:7670563|PMID:7721104|PMID:7833912|PMID:8768831|PMID:9392392|PMID:9588494|PMID:9626142 8865312 Pou1f1 POU class 1 homeobox 1 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:732450 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive PMID:25741868|PMID:26467025|PMID:28492532|PMID:31755341 8865312 Pou1f1 POU class 1 homeobox 1 gene DOID:9255 frontotemporal dementia ISO RGD:732450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26467025|PMID:28492532 8865312 Pou1f1 POU class 1 homeobox 1 gene DOID:9410 panhypopituitarism ISO RGD:732450 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:15928241|PMID:25741868|PMID:27541381|PMID:28492532|PMID:30266296 8865325 Lcn12 lipocalin 12 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8865325 Lcn12 lipocalin 12 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1350830 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8865325 Lcn12 lipocalin 12 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1350830 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8865325 Lcn12 lipocalin 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8865325 Lcn12 lipocalin 12 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8865325 Lcn12 lipocalin 12 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8865325 Lcn12 lipocalin 12 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8865325 Lcn12 lipocalin 12 gene DOID:0081097 Rafiq syndrome ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8865325 Lcn12 lipocalin 12 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350830 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8865325 Lcn12 lipocalin 12 gene DOID:1826 epilepsy ISO RGD:1350830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8865325 Lcn12 lipocalin 12 gene DOID:3652 Leigh disease ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8865325 Lcn12 lipocalin 12 gene DOID:630 genetic disease ISO RGD:1350830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865325 Lcn12 lipocalin 12 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8865359 Otud5 OTU deubiquitinase 5 gene DOID:0060641 endocrine-cerebro-osteodysplasia syndrome ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysplastic corpus callosum PMID:25741868 8865359 Otud5 OTU deubiquitinase 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8865359 Otud5 OTU deubiquitinase 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8865359 Otud5 OTU deubiquitinase 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8865359 Otud5 OTU deubiquitinase 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 PMID:28492532 8865359 Otud5 OTU deubiquitinase 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8865359 Otud5 OTU deubiquitinase 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8865359 Otud5 OTU deubiquitinase 5 gene DOID:12849 autistic disorder ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8865359 Otud5 OTU deubiquitinase 5 gene DOID:3070 high grade glioma ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8865359 Otud5 OTU deubiquitinase 5 gene DOID:630 genetic disease ISO RGD:1604609 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33523931 8865359 Otud5 OTU deubiquitinase 5 gene DOID:9009180 MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED ISO RGD:1604609 D RGD:7240710 20210317 OMIM 8865359 Otud5 OTU deubiquitinase 5 gene DOID:9009180 MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED ISO RGD:1604609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked PMID:25741868|PMID:33131077|PMID:33523931 8865387 Kdm6a lysine demethylase 6A gene DOID:0050834 CHARGE syndrome ISO RGD:1354488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532|PMID:29300383 8865387 Kdm6a lysine demethylase 6A gene DOID:0060041 autism spectrum disorder ISO RGD:1354488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8865387 Kdm6a lysine demethylase 6A gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:mutations:multiple: (human) PMID:32923150|REF_RGD_ID:150429734 8865387 Kdm6a lysine demethylase 6A gene DOID:0060473 Kabuki syndrome ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8865387 Kdm6a lysine demethylase 6A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8865387 Kdm6a lysine demethylase 6A gene DOID:0080188 chronic myelomonocytic leukemia ISO RGD:1558450 D RGD:9068941 20220825 MouseDO 8865387 Kdm6a lysine demethylase 6A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8865387 Kdm6a lysine demethylase 6A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human) PMID:23685749|REF_RGD_ID:150429732 8865387 Kdm6a lysine demethylase 6A gene DOID:0080202 adenoid cystic carcinoma exacerbates ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:mutations:multiple: (human) PMID:31483290|REF_RGD_ID:150429736 8865387 Kdm6a lysine demethylase 6A gene DOID:10283 prostate cancer ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8865387 Kdm6a lysine demethylase 6A gene DOID:10534 stomach cancer exacerbates ISO RGD:1354488 D RGD:9068941 20211105 RGD DNA:mutations:multiple (human) PMID:32867456|REF_RGD_ID:150520203 8865387 Kdm6a lysine demethylase 6A gene DOID:1059 intellectual disability ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24728327|PMID:25741868|PMID:28492532 8865387 Kdm6a lysine demethylase 6A gene DOID:11054 urinary bladder cancer ISO RGD:1354488 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:23076834|PMID:23913813|PMID:25741868|PMID:27777708|PMID:28492532 8865387 Kdm6a lysine demethylase 6A gene DOID:12849 autistic disorder ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8865387 Kdm6a lysine demethylase 6A gene DOID:1324 lung cancer exacerbates ISO RGD:1558450 D RGD:9068941 20210924 RGD PMID:29632194|REF_RGD_ID:150429738 8865387 Kdm6a lysine demethylase 6A gene DOID:14566 disease of cellular proliferation ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330029 8865387 Kdm6a lysine demethylase 6A gene DOID:1612 breast cancer severity ISO RGD:1354488 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|PMID:23266085|REF_RGD_ID:9586031|REF_RGD_ID:9586731 8865387 Kdm6a lysine demethylase 6A gene DOID:1996 rectum adenocarcinoma exacerbates ISO RGD:1354488 D RGD:9068941 20210924 RGD mRNA:decreased expression:rectum (human) PMID:33174323|REF_RGD_ID:150429730 8865387 Kdm6a lysine demethylase 6A gene DOID:2256 osteochondrodysplasia ISO RGD:1354488 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 8865387 Kdm6a lysine demethylase 6A gene DOID:234 colon adenocarcinoma ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:hypermethylation PMID:33174323|REF_RGD_ID:150429730 8865387 Kdm6a lysine demethylase 6A gene DOID:2671 transitional cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 8865387 Kdm6a lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8865387 Kdm6a lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25151357|REF_RGD_ID:9588233 8865387 Kdm6a lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1354488 D RGD:9068941 20210924 RGD mRNA:increased expression:esophagus (human) PMID:31804468|REF_RGD_ID:150429742 8865387 Kdm6a lysine demethylase 6A gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:1354488 D RGD:9068941 20210924 RGD protein:increased expression:esophagus (human) PMID:29351209|REF_RGD_ID:150429739 8865387 Kdm6a lysine demethylase 6A gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1354488 D RGD:9068941 20210924 RGD human cells in a mouse model PMID:32879445|REF_RGD_ID:150429731 8865387 Kdm6a lysine demethylase 6A gene DOID:4006 bladder urothelial carcinoma susceptibility ISO RGD:1354488 D RGD:9068941 20210924 RGD associated with upper tract urothelial carcinoma; DNA:mutations:multiple: (human) PMID:30352907|REF_RGD_ID:150429735 8865387 Kdm6a lysine demethylase 6A gene DOID:4450 renal cell carcinoma ISO RGD:1354488 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:23057811|REF_RGD_ID:9587837 8865387 Kdm6a lysine demethylase 6A gene DOID:5409 lung small cell carcinoma ISO RGD:1354488 D RGD:9068941 20210924 RGD DNA:mutations:multiple: (human) PMID:31199602|REF_RGD_ID:150429733 8865387 Kdm6a lysine demethylase 6A gene DOID:5844 myocardial infarction ISO RGD:9275041 D RGD:9068941 20220311 RGD mRNA:increased expression:myocardium (rat) PMID:30887465|REF_RGD_ID:151665136 8865387 Kdm6a lysine demethylase 6A gene DOID:630 genetic disease ISO RGD:1354488 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21828135|PMID:22377896|PMID:23076834|PMID:23913813|PMID:24728327|PMID:25225064|PMID:25741868|PMID:27276561|PMID:27302555|PMID:28492532|PMID:29479066|PMID:29758562 8865387 Kdm6a lysine demethylase 6A gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1354488 D RGD:9068941 20210924 RGD human cells in a mouse model PMID:32765772|REF_RGD_ID:150429729 8865387 Kdm6a lysine demethylase 6A gene DOID:7474 malignant pleural mesothelioma ISO RGD:1354488 D RGD:9068941 20210924 RGD mRNA:increased expression:mesothelium of pleural cavity (human) PMID:28197626|REF_RGD_ID:150429737 8865387 Kdm6a lysine demethylase 6A gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1354488 D RGD:9068941 20210924 RGD associated with lung adenocarcinoma;protein:increased expression:brain (human) PMID:33291558|REF_RGD_ID:150429741 8865387 Kdm6a lysine demethylase 6A gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1354488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:11261516|PMID:19370762|PMID:23076834|PMID:23913813|PMID:24728327|PMID:25398587|PMID:25741868|PMID:27302555|PMID:28492532|PMID:29758562 8865387 Kdm6a lysine demethylase 6A gene DOID:9002165 Diabetic Nephropathies ISO RGD:1558450 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:kidney (mouse) PMID:23508046|REF_RGD_ID:9587808 8865387 Kdm6a lysine demethylase 6A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8865387 Kdm6a lysine demethylase 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354488 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23076834|PMID:23913813|PMID:25741868|PMID:28492532 8865387 Kdm6a lysine demethylase 6A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:9275041 D RGD:9068941 20220311 RGD PMID:31266808|REF_RGD_ID:151665138 8865387 Kdm6a lysine demethylase 6A gene DOID:9007284 Precocious Puberty ISO RGD:1354488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 8865387 Kdm6a lysine demethylase 6A gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1354488 D RGD:7240710 20180130 OMIM 8865387 Kdm6a lysine demethylase 6A gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1354488 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: KDM6A-related condition | ClinVar Annotator: match by term: Kabuki Syndrome - KDM6A | ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:11261516|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19370762|PMID:21828135|PMID:22197486|PMID:22377896|PMID:23076834|PMID:23354975|PMID:23913813|PMID:24527667|PMID:24664873|PMID:24728327|PMID:24759409|PMID:25225064|PMID:25326635|PMID:25326637|PMID:25398587|PMID:25741868|PMID:25972376|PMID:26467025|PMID:26633542|PMID:27276561|PMID:27302555|PMID:27777708|PMID:28492532|PMID:28708303|PMID:29300383|PMID:29302074|PMID:29479066|PMID:29758562|PMID:30107592|PMID:31883305|PMID:33742552|PMID:36672956|PMID:9536098 8865387 Kdm6a lysine demethylase 6A gene DOID:9008086 Developmental Disabilities ISO RGD:1354488 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8865387 Kdm6a lysine demethylase 6A gene DOID:9256 colorectal cancer ameliorates ISO RGD:1354488 D RGD:9068941 20210924 RGD human cells in a mouse model PMID:31139021|REF_RGD_ID:150429740 8865387 Kdm6a lysine demethylase 6A gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1354488 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:22377896|REF_RGD_ID:9684944 8865432 Rbm25 RNA binding motif protein 25 gene DOID:1059 intellectual disability ISO RGD:1318710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8865432 Rbm25 RNA binding motif protein 25 gene DOID:630 genetic disease ISO RGD:1318710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865462 Ror1 receptor tyrosine kinase like orphan receptor 1 gene DOID:0080263 autosomal recessive nonsyndromic deafness 108 ISO RGD:1352147 D RGD:7240710 20190315 OMIM 8865462 Ror1 receptor tyrosine kinase like orphan receptor 1 gene DOID:0080263 autosomal recessive nonsyndromic deafness 108 ISO RGD:1352147 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 108 PMID:25741868|PMID:27162350|PMID:28492532 8865462 Ror1 receptor tyrosine kinase like orphan receptor 1 gene DOID:1059 intellectual disability ISO RGD:1352147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8865462 Ror1 receptor tyrosine kinase like orphan receptor 1 gene DOID:630 genetic disease ISO RGD:1352147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8865462 Ror1 receptor tyrosine kinase like orphan receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 8865462 Ror1 receptor tyrosine kinase like orphan receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1352147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 8865513 Fn3k fructosamine 3 kinase gene DOID:630 genetic disease ISO RGD:1350348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865540 Prpf40a pre-mRNA processing factor 40 homolog A gene DOID:630 genetic disease ISO RGD:1322844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865576 Gba2 glucosylceramidase beta 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8865576 Gba2 glucosylceramidase beta 2 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8865576 Gba2 glucosylceramidase beta 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313721 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8865576 Gba2 glucosylceramidase beta 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8865576 Gba2 glucosylceramidase beta 2 gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1313721 D RGD:7240710 20180130 OMIM 8865576 Gba2 glucosylceramidase beta 2 gene DOID:0110798 hereditary spastic paraplegia 46 ISO RGD:1313721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 PMID:16199547|PMID:20593214|PMID:23332916|PMID:23332917|PMID:24252062|PMID:25741868|PMID:26220345|PMID:28492532|PMID:28832565|PMID:30308956 8865576 Gba2 glucosylceramidase beta 2 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868|PMID:28492532|PMID:29453417 8865576 Gba2 glucosylceramidase beta 2 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8865576 Gba2 glucosylceramidase beta 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8865576 Gba2 glucosylceramidase beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 8865576 Gba2 glucosylceramidase beta 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:20593214|PMID:23332916|PMID:23332917|PMID:25741868|PMID:26220345|PMID:28492532|PMID:28832565 8865576 Gba2 glucosylceramidase beta 2 gene DOID:607 paraplegia ISO RGD:1313721 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:23332916|PMID:23332917|PMID:25741868|PMID:26220345|PMID:28052128|PMID:28492532|PMID:29453417|PMID:29980238|PMID:32590105|PMID:34251556|PMID:34782662|PMID:9536098 8865576 Gba2 glucosylceramidase beta 2 gene DOID:630 genetic disease ISO RGD:1313721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23332916|PMID:23332917|PMID:25741868|PMID:28492532 8865576 Gba2 glucosylceramidase beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313721 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8865576 Gba2 glucosylceramidase beta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313721 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8865576 Gba2 glucosylceramidase beta 2 gene DOID:9870 galactosemia ISO RGD:1313721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8865603 Cep76 centrosomal protein 76 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8865603 Cep76 centrosomal protein 76 gene DOID:1059 intellectual disability ISO RGD:1313060 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8865603 Cep76 centrosomal protein 76 gene DOID:543 dystonia ISO RGD:1313060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8865603 Cep76 centrosomal protein 76 gene DOID:630 genetic disease ISO RGD:1313060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865603 Cep76 centrosomal protein 76 gene DOID:9007661 Dwarfism ISO RGD:1313060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8865621 Osr1 odd-skipped related transcription factor 1 gene DOID:630 genetic disease ISO RGD:1605876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865628 LOC102011120 filamin-interacting protein FAM101A gene DOID:630 genetic disease ISO RGD:1606962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865657 Dclre1a DNA cross-link repair 1A gene DOID:630 genetic disease ISO RGD:1314610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865675 Bcl2l14 BCL2 like 14 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1603380 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8865675 Bcl2l14 BCL2 like 14 gene DOID:10286 prostate carcinoma ISO RGD:1603380 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:14999772|REF_RGD_ID:2315712 8865675 Bcl2l14 BCL2 like 14 gene DOID:630 genetic disease ISO RGD:1603380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865708 Gstz1 glutathione S-transferase zeta 1 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1352057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 8865708 Gstz1 glutathione S-transferase zeta 1 gene DOID:0080600 COVID-19 ISO RGD:1352057 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8865708 Gstz1 glutathione S-transferase zeta 1 gene DOID:11054 urinary bladder cancer ISO RGD:1352057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22306368 8865708 Gstz1 glutathione S-transferase zeta 1 gene DOID:3426 vestibular disease ISO RGD:1352057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18776599 8865708 Gstz1 glutathione S-transferase zeta 1 gene DOID:630 genetic disease ISO RGD:1352057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865708 Gstz1 glutathione S-transferase zeta 1 gene DOID:9007857 Maleylacetoacetate Isomerase Deficiency ISO RGD:1352057 D RGD:7240710 20190315 OMIM 8865708 Gstz1 glutathione S-transferase zeta 1 gene DOID:9007857 Maleylacetoacetate Isomerase Deficiency ISO RGD:1352057 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Maleylacetoacetate isomerase deficiency PMID:25741868|PMID:27876694 8865728 Ssbp1 single stranded DNA binding protein 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:736464 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:31298765|PMID:31550237|PMID:36909829 8865728 Ssbp1 single stranded DNA binding protein 1 gene DOID:0080690 RASopathy ISO RGD:736464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8865728 Ssbp1 single stranded DNA binding protein 1 gene DOID:37 skin disease ISO RGD:736464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8865728 Ssbp1 single stranded DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:736464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865728 Ssbp1 single stranded DNA binding protein 1 gene DOID:9005656 Optic Atrophy 13 ISO RGD:736464 D RGD:7240710 20200930 OMIM 8865728 Ssbp1 single stranded DNA binding protein 1 gene DOID:9005656 Optic Atrophy 13 ISO RGD:736464 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Optic atrophy 13 with retinal and foveal abnormalities PMID:25741868|PMID:31298765|PMID:31550237|PMID:31550240|PMID:36909829 8865728 Ssbp1 single stranded DNA binding protein 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:736464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8865728 Ssbp1 single stranded DNA binding protein 1 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:736464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1323042 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:23542697|PMID:24283814|PMID:24814846|PMID:25366275|PMID:25741868|PMID:28492532|PMID:28549235|PMID:28717674|PMID:31639411 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1323042 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:24283814|PMID:25366275|PMID:25741868|PMID:28492532|PMID:28549235|PMID:28717674|PMID:31639411 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0081420 familial focal epilepsy with variable foci ISO RGD:1323042 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial focal epilepsy with variable foci PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:20864493|PMID:22406018|PMID:23542697|PMID:23542701|PMID:23609619|PMID:23869883|PMID:24283814|PMID:24585383|PMID:24591017|PMID:24814846|PMID:25366275|PMID:25599672|PMID:25623524|PMID:25640679|PMID:25741868|PMID:25989649|PMID:26000329|PMID:26467025|PMID:26505888|PMID:26704558|PMID:27066554|PMID:27173016|PMID:28102150|PMID:28166811|PMID:28170089|PMID:28199897|PMID:28492532|PMID:28549235|PMID:28717674|PMID:29057844|PMID:29356177|PMID:29358611|PMID:29761115|PMID:30093711|PMID:30166713|PMID:30427063|PMID:30525188|PMID:30767899|PMID:31139143|PMID:31440721|PMID:31594065|PMID:31639411|PMID:31875159|PMID:31957018|PMID:32086284|PMID:32848577|PMID:34239491|PMID:36067010|PMID:36539902|PMID:36703223|PMID:9536098 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0081421 familial focal epilepsy with variable foci 1 ISO RGD:1323042 D RGD:7240710 20180130 OMIM 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0081421 familial focal epilepsy with variable foci 1 ISO RGD:1323042 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DEPDC5-Related Disorder | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 PMID:16199547|PMID:17576681|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23609619|PMID:23869883|PMID:24283814|PMID:24585383|PMID:24591017|PMID:24814846|PMID:25366275|PMID:25599672|PMID:25623524|PMID:25741868|PMID:25741869|PMID:26000329|PMID:26216793|PMID:26467025|PMID:26505888|PMID:26704558|PMID:27066544|PMID:27066554|PMID:27066565|PMID:27159400|PMID:28102150|PMID:28166811|PMID:28199897|PMID:28492532|PMID:28549235|PMID:28677221|PMID:28717674|PMID:29057844|PMID:29356177|PMID:29358611|PMID:29761115|PMID:30093711|PMID:30767899|PMID:31139143|PMID:31440721|PMID:31594065|PMID:31639411|PMID:31875159|PMID:32086284|PMID:32848577|PMID:36539902|PMID:36703223|PMID:9536098 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:0112218 developmental and epileptic encephalopathy 83 ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83 PMID:25741868|PMID:28492532 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1059 intellectual disability ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23542697|PMID:23542701|PMID:25741868|PMID:26467025|PMID:28492532 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:11832 visual epilepsy ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28166811|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611|PMID:30093711 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:11832 visual epilepsy ISO RGD:1323042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1826 epilepsy ISO RGD:1323042 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1826 epilepsy ISO RGD:1323042 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10825362|PMID:14510823|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23869883|PMID:24283814|PMID:25366275|PMID:25599672|PMID:25623524|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:27066554|PMID:28102150|PMID:28492532|PMID:28717674|PMID:29356177|PMID:29358611|PMID:30767899|PMID:32848577 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:1826 epilepsy ISO RGD:1323042 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:16199547|PMID:23542697|PMID:23542701|PMID:25623524|PMID:25741868|PMID:28492532|PMID:30093711 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:3070 high grade glioma ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1323042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:24591017|PMID:25366275|PMID:25741868|PMID:26505888|PMID:28166811|PMID:28492532|PMID:29358611 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:630 genetic disease ISO RGD:1323042 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:20864493|PMID:23542697|PMID:23542701|PMID:23609619|PMID:23869883|PMID:24283814|PMID:24585383|PMID:25366275|PMID:25599672|PMID:25741868|PMID:26000329|PMID:26467025|PMID:26505888|PMID:26704558|PMID:27066554|PMID:28102150|PMID:28170089|PMID:28492532|PMID:28549235|PMID:28717674|PMID:29057844|PMID:29356177|PMID:29358611|PMID:30093711|PMID:30427063|PMID:30767899|PMID:31139143|PMID:31594065|PMID:31639411|PMID:32848577|PMID:36539902|PMID:36703223|PMID:9536098 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1323042 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21725309 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1323042 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9004554 Developmental and Epileptic Encephalopathy 111 ISO RGD:1323042 D RGD:7240710 20230927 OMIM 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9004554 Developmental and Epileptic Encephalopathy 111 ISO RGD:1323042 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DEPDC5-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 111 PMID:23542697|PMID:23542701|PMID:24283814|PMID:25741868|PMID:26467025|PMID:26505888|PMID:26704558|PMID:28492532|PMID:30093711|PMID:31639411 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9007 sudden infant death syndrome ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8865746 Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit gene DOID:9008582 Developmental Disease ISO RGD:1323042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8865810 Shisal2a shisa like 2A gene DOID:630 genetic disease ISO RGD:1601694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865820 Tm7sf2 transmembrane 7 superfamily member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1322541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8865820 Tm7sf2 transmembrane 7 superfamily member 2 gene DOID:1059 intellectual disability ISO RGD:1322541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8865820 Tm7sf2 transmembrane 7 superfamily member 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8865820 Tm7sf2 transmembrane 7 superfamily member 2 gene DOID:2746 glycogen storage disease V ISO RGD:1322541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8865820 Tm7sf2 transmembrane 7 superfamily member 2 gene DOID:3070 high grade glioma ISO RGD:1322541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8865820 Tm7sf2 transmembrane 7 superfamily member 2 gene DOID:630 genetic disease ISO RGD:1322541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:732968 D RGD:9068941 20220121 RGD associated with Neoplasm Metastasis; DNA:missense mutation:cds: p.R399Q, c.1196G>A (human) PMID:19908066|REF_RGD_ID:150573820 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R280H (human) PMID:26482462|REF_RGD_ID:11075607 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R194W, p.R399Q (human) PMID:26482462|REF_RGD_ID:11075607 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:0060108 brain glioma susceptibility ISO RGD:732968 D RGD:9068941 20230928 RGD DNA:SNP:exon 10: p.R399Q (human) PMID:18330515|REF_RGD_ID:401827274 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:732968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:0080199 colorectal carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNPs:exon 6, exon 10: p.R194W, p.R399Q (human) PMID:28638257|REF_RGD_ID:150539031 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:0080260 autosomal recessive spinocerebellar ataxia 26 ISO RGD:732968 D RGD:7240710 20190315 OMIM 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:0080260 autosomal recessive spinocerebellar ataxia 26 ISO RGD:732968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26 PMID:16875718|PMID:19362955|PMID:20530282|PMID:21057378|PMID:22026922|PMID:22188361|PMID:22761669|PMID:22992668|PMID:24224851|PMID:24446315|PMID:25025378|PMID:25232828|PMID:25741868|PMID:27248474|PMID:27636246|PMID:28002403|PMID:28422153|PMID:28743242|PMID:29662106 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:17491266|REF_RGD_ID:2302571 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer ameliorates ISO RGD:732968 D RGD:9068941 20220811 RGD DNA:missense mutation:CDS:p.R399Q (human) PMID:23604281|REF_RGD_ID:150530625 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:732968 D RGD:9068941 20220107 RGD DNA:SNP:exon 10: p.R399Q, 399G>A(human) PMID:21378360|REF_RGD_ID:150540335 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:: p.R194W (human) PMID:27706710|REF_RGD_ID:150530630 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNPs:exon 6, exon 10: C>T p.R194W, G>A p.R399Q (human) PMID:27221877|REF_RGD_ID:150537038 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNPs:exon 9, exon 17: c.910A>G, c.1804C>A (human) PMID:23983608|REF_RGD_ID:150530647 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer treatment ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP: 399A>G (human) PMID:26770441|REF_RGD_ID:150530623 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer treatment ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:cds: p.R399Q G>A (human) PMID:17593927|REF_RGD_ID:150573705 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:10534 stomach cancer treatment ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:cds: p.R194W (human) PMID:20331623|REF_RGD_ID:151232294 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:10763 hypertension susceptibility ISO RGD:732968 D RGD:9068941 20230928 RGD DNA:SNP,haplotypes: p.R194W, p.R399Q (rs1799782, rs25487) (human) PMID:25529925|REF_RGD_ID:401827819 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:11054 urinary bladder cancer no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:17425776|REF_RGD_ID:2302572 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:18765423|REF_RGD_ID:2302568 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP: p.R399Q (human) PMID:18272472|REF_RGD_ID:150530493 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:11088 asphyxia neonatorum ISO RGD:619823 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:9763211|REF_RGD_ID:2302855 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:11832 visual epilepsy ISO RGD:619823 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron PMID:15854596|REF_RGD_ID:2302852 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:12336 male infertility ISO RGD:732968 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30998386 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:12549 hepatitis A susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1001581) (human) PMID:29558945|REF_RGD_ID:15036793 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:12549 hepatitis A susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R194W (rs1799782) (human) PMID:22135187|REF_RGD_ID:15014793 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:127 leiomyoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:15760950|REF_RGD_ID:2302578 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer no_association ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:cds: p.R399Q (human) PMID:15705867|REF_RGD_ID:151347439 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer onset ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:exon 10: p.R399Q (human) PMID:25584213|REF_RGD_ID:151347407 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer severity ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:exon 10: p.R399Q, 28152G>A (human) PMID:17952468|REF_RGD_ID:151347172 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:SNP:exon 10: c.1178G>A, p.R393H (human) PMID:24935603|REF_RGD_ID:11056906 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:exon 17: c.1804C>A, p.P602T (human) PMID:27323144|REF_RGD_ID:151236316 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutations:cds: p.R399Q, p.R194W (human) PMID:17531525|REF_RGD_ID:151347426 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:SNP, haplotype:5'utr: 77T>C (rs3213245) (human) PMID:16652158|REF_RGD_ID:151232296 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:SNPs, haplotypes:exon 6, exon 7: p.R194W, p.P206P (rs179978, rs915927) (human) PMID:19061777|REF_RGD_ID:151347416 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:1324 lung cancer susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:exon 10: p.R399Q (rs25487) (human) PMID:25038912|REF_RGD_ID:151347450 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:1790 malignant mesothelioma treatment ISO RGD:732968 D RGD:9068941 20220121 RGD PMID:22982660|REF_RGD_ID:151347428 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:1793 pancreatic cancer ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1799782 (human) PMID:16520463|REF_RGD_ID:2317367 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:1875 impotence susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;DNA:polymorphism: :p.R280H PMID:18582155|REF_RGD_ID:2302570 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:2043 hepatitis B susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.R399Q (human) PMID:23454624|REF_RGD_ID:15036794 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:619823 D RGD:9068941 20200609 RGD PMID:19840223|REF_RGD_ID:2325713 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:2600 laryngeal carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:SNPs, haplotype:: (rs3213403, rs1799778, rs3213282) (human) PMID:24956286|REF_RGD_ID:151236314 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:2600 laryngeal carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:cds: p.R280H (human) PMID:27808358|REF_RGD_ID:151236313 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:2671 transitional cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R194W PMID:18199464|REF_RGD_ID:2293824 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:2773 contact dermatitis susceptibility ISO RGD:732968 D RGD:9068941 20211231 RGD associated with nasopharynx carcinoma;DNA:SNP:cds: p.R399Q (human) PMID:23375119|REF_RGD_ID:150539032 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:732968 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3008 invasive ductal carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:18752184|REF_RGD_ID:2302569 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3068 glioblastoma susceptibility ISO RGD:732968 D RGD:9068941 20230928 RGD DNA:SNP:exon 10: p.R399Q (human) PMID:18330515|REF_RGD_ID:401827274 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3070 high grade glioma ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25227852 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:732968 D RGD:9068941 20231026 RGD DNA:SNP:cd: p.Q399R (rs25487) (human) PMID:23534771|REF_RGD_ID:401850601 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3121 gallbladder cancer susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R194W, p.R399Q (human) PMID:19266243|REF_RGD_ID:2317128 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3393 coronary artery disease onset ISO RGD:732968 D RGD:9068941 20231026 RGD DNA:polymorphism:: (rs1799782) (human) PMID:24315498|REF_RGD_ID:401850782 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3565 meningioma susceptibility ISO RGD:732968 D RGD:9068941 20230928 RGD DNA:SNP:exon 10: p.R399Q (human) PMID:18330515|REF_RGD_ID:401827274 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3571 liver cancer severity ISO RGD:732968 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:30088263|REF_RGD_ID:15036795 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3620 central nervous system cancer susceptibility ISO RGD:732968 D RGD:9068941 20231026 RGD DNA:SNPs:cd: p.R194W, p.Q399R (rs1799782, rs25487) (human) PMID:23534771|REF_RGD_ID:401850601 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16639733 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma no_association ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:cds: p.R399Q (human) PMID:11400117|REF_RGD_ID:151347444 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:SNPs,haplotypes:multiple (human) PMID:25710005|REF_RGD_ID:150530501 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:732968 D RGD:9068941 20211217 RGD PMID:28356949|REF_RGD_ID:150530505 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNPs:exon 6, exon 9, exon 10:multiple (human) PMID:27123143|REF_RGD_ID:150530634 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer PMID:19157633 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:SNP:3'utr: (rs25487) (human) PMID:26345972|REF_RGD_ID:11251107 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:cds: p.R194W (human) PMID:26097609|REF_RGD_ID:11538163 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutations:cds:p.R194W, p.R399Q (human) PMID:25308691|REF_RGD_ID:151232295 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:9068941 20210604 RGD DNA:missense mutation:p.R399Q (human) PMID:23549037|REF_RGD_ID:127229950 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732968 D RGD:9068941 20220121 RGD PMID:15301704|PMID:19157633|PMID:19958624|PMID:22152690|PMID:24446315|PMID:24782167|REF_RGD_ID:11097268|REF_RGD_ID:151232297|REF_RGD_ID:151347175|REF_RGD_ID:151347402|REF_RGD_ID:151347410|REF_RGD_ID:151347427 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:exon 10: p.R399Q (rs25487) (human) PMID:20003463|REF_RGD_ID:151347422 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220121 RGD DNA:missense mutation:cds: p.R399Q (human) PMID:11104903|REF_RGD_ID:151347406 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:3969 thyroid gland papillary carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20231026 RGD DNA:SNP:exon 10: p.R399Q (rs25487) (Human) PMID:19286843|REF_RGD_ID:401850780 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:4362 cervical cancer ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R194W PMID:18851872|REF_RGD_ID:2302567 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:4440 seminoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:16596238|REF_RGD_ID:2302576 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R399Q PMID:16510122|REF_RGD_ID:2302577 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:5041 esophageal cancer susceptibility ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:exon 9: p.T304A, c.910A>G (human) PMID:24345911|REF_RGD_ID:150530620 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R194W (human) PMID:29935355|REF_RGD_ID:15036797 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Human Viral Hepatitis;DNA:missense mutation:cds:p.R399Q (rs25487) (human) PMID:24018491|REF_RGD_ID:14985244 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human) PMID:23454624|REF_RGD_ID:15036794 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:5419 schizophrenia ISO RGD:732968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:5517 stomach carcinoma onset ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP::p.R194W (human) PMID:20863780|REF_RGD_ID:150530627 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:6270 gastric cardia carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP::p.R194W (human) PMID:20863780|REF_RGD_ID:150530627 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:6271 gastric cardia adenocarcinoma susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:cds: p.R399Q (human) PMID:16890595|REF_RGD_ID:150530492 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:630 genetic disease ISO RGD:732968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNPs:cds: 194C>T, 280A>G (human) PMID:28927037|REF_RGD_ID:150530503 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R399Q (human) PMID:29935355|REF_RGD_ID:15036797 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R399Q (28152G>A) (rs25487) (human) PMID:26918371|REF_RGD_ID:14985240 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R399Q (rs25487) (human) PMID:23534753|REF_RGD_ID:15014791 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:732968 D RGD:9068941 20220107 RGD associated with Chronic Hepatitis C;DNA:SNP:exon 14: c.1517G>C, p.506G>A (human) PMID:32334466|REF_RGD_ID:150540333 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNPs:exons:c.1254C>T, c.1517G>C (human) PMID:23984316|REF_RGD_ID:15014789 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1804C>A (p.G506A) (human) PMID:24526467|REF_RGD_ID:14985242 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R399Q (human) PMID:22502666|REF_RGD_ID:14985243 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R399Q (rs25487) (human) PMID:28058700|PMID:29682247|REF_RGD_ID:14696702|REF_RGD_ID:14985238 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.482C>T, c.1178G>A (p.P161L, p.R393H) (human) PMID:24570146|REF_RGD_ID:14696772 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.R194W, p.R280H, p.R399Q (human) PMID:19194663|REF_RGD_ID:15014792 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:silent mutation, missense mutation:cds:c.1161G>A, c.1779C>G (p.L387L, p.S593R) (human) PMID:23493666|REF_RGD_ID:14696773 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R194W (human) PMID:29935355|REF_RGD_ID:15036797 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human) PMID:14519756|PMID:23454624|REF_RGD_ID:15014790|REF_RGD_ID:15036794 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:exon 13: c.1471G>A, p.E491K (human) PMID:24446299|REF_RGD_ID:150530624 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220107 RGD DNA:SNPs:exon 9, exon 15: c.910A>G, c.1686C>G (human) PMID:24634229|REF_RGD_ID:150540332 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:83 cataract ISO RGD:732969 D RGD:9068941 20200609 RGD associated with Radiation Injuries PMID:18334943|REF_RGD_ID:10401127 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP:cds :p.R194W(human) PMID:26250462|REF_RGD_ID:11081180 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:8719 in situ carcinoma ISO RGD:619823 D RGD:9068941 20200609 RGD associated with Lung Neoplasms PMID:21530494|REF_RGD_ID:10045659 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:732968 D RGD:9068941 20230928 RGD DNA:SNP:cd: p.R399Q G>A (rs25487) (human) PMID:30472145|REF_RGD_ID:401827275 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22452940 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD associated with Neoplasms, Germ Cell and Embryonal;DNA:polymorphism: :p.R399Q PMID:16596238|REF_RGD_ID:2302576 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9001629 5 Alpha Fluorouracil Toxicity susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:missense mutation:CDS:p.R399Q (human) PMID:23604281|REF_RGD_ID:150530625 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human) PMID:19484764|REF_RGD_ID:11252204 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:SNP: :p.R399Q (rs25487) (human) PMID:19484764|REF_RGD_ID:11252204 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16406883|PMID:17196815|PMID:17486273 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9003216 Salivary Gland Neoplasms severity ISO RGD:732968 D RGD:9068941 20211224 RGD protein:decreased expression:saliva-secreting gland (human) PMID:33202356|REF_RGD_ID:150530645 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9003566 Mesothelioma ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16564556|PMID:20705543 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9003996 Birth Weight ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27592400 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9004009 Reperfusion Injury ISO RGD:619823 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17412650|REF_RGD_ID:2302580 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R194W, p.R280H, p.R399Q (human) PMID:29935355|REF_RGD_ID:15036797 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9005463 Occupational Diseases ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15612468 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20223788|PMID:21351625 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9006976 Erythema ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24594932 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9007329 Human Viral Hepatitis susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R194W, p.R280H (human) PMID:19194663|REF_RGD_ID:15014792 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:haplotye:: PMID:17290401|REF_RGD_ID:8552678 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:732969 D RGD:9068941 20200609 RGD DNA:haploinsufficiency: : (mouse) PMID:21737425|REF_RGD_ID:15036796 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17381415|REF_RGD_ID:2302573 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R194W, p.R399Q PMID:16963196|REF_RGD_ID:2302574 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q PMID:19051060|REF_RGD_ID:2302566 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS10+141G>A PMID:16596326|REF_RGD_ID:2302575 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:exon 10: p.R399Q (human) PMID:27686263|REF_RGD_ID:150573803 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer severity ISO RGD:732968 D RGD:9068941 20220128 RGD DNA:missense mutation:cds: p.R399Q (human) PMID:22580644|REF_RGD_ID:150540339 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:: p.R194W (human) PMID:26434847|REF_RGD_ID:11353313 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNP:cds: p.R399Q (human) PMID:15800946|REF_RGD_ID:150537039 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNP:exon 6: C>T p.R194W (human) PMID:27221877|REF_RGD_ID:150537038 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20220107 RGD DNA:SNP:exon 10: p.R399Q G>A (human) PMID:22524842|REF_RGD_ID:150540340 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:exon 10: p.R399Q (rs25487) (human) PMID:25227862|REF_RGD_ID:150573806 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer treatment ISO RGD:732968 D RGD:9068941 20211224 RGD DNA:SNP:exon 10: p.R399Q (human) PMID:17009149|REF_RGD_ID:150530641 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer treatment ISO RGD:732968 D RGD:9068941 20211231 RGD DNA:SNP:3'utr: (rs1799782) (human) PMID:33765714|REF_RGD_ID:150539454 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9256 colorectal cancer treatment ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:cds: p.R399Q G>A (human) PMID:22549274|REF_RGD_ID:150573706 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma sexual_dimorphism ISO RGD:732968 D RGD:9068941 20220107 RGD DNA:missense mutation:cds: p.R194W (human) PMID:16796765|REF_RGD_ID:150573694 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:cds: p.R194W (human) PMID:17630853|REF_RGD_ID:150573708 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220114 RGD DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human) PMID:24175791|REF_RGD_ID:150573698 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:732968 D RGD:9068941 20220114 RGD associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human) PMID:27356695|REF_RGD_ID:150573697 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:732968 D RGD:9068941 20211217 RGD DNA:SNP:3'utr: (rs25489) (human) PMID:29108254|REF_RGD_ID:150530619 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732968 D RGD:9068941 20230928 RGD DNA:SNP:cd: p.R399Q G>A (rs25487) (human) PMID:30472145|REF_RGD_ID:401827275 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9637 stomatitis ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24594932 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotye:cds:p.R399Q(human) PMID:17290401|REF_RGD_ID:8552678 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9669 senile cataract susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G399A (human) PMID:21599457|REF_RGD_ID:10401083 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983886 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R194W (human) PMID:19101034|REF_RGD_ID:11252192 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R399Q (human) PMID:19101034|REF_RGD_ID:11252192 8865835 Xrcc1 X-ray repair cross complementing 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:732968 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype: :p.R399Q (human) PMID:21983886|REF_RGD_ID:11252110 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:12894 Sjogren's syndrome ISO RGD:1553777 D RGD:9068941 20220825 MouseDO OMIM:270150 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:299 adenocarcinoma ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:305 carcinoma ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:50 thyroid gland disease ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:630 genetic disease ISO RGD:734069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:8584 Burkitt lymphoma ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143595|PMID:23143597 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:863 nervous system disease ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:9000039 Spinal Cord Injuries ISO RGD:2860 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:11746449|REF_RGD_ID:9686138 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:9002928 Colonic Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:9004009 Reperfusion Injury ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:9005172 Lung Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:734069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8865858 Id3 inhibitor of DNA binding 3, HLH protein gene DOID:9007102 Myocardial Ischemia ISO RGD:734069 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8865866 Nmur2 neuromedin U receptor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343070 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8865866 Nmur2 neuromedin U receptor 2 gene DOID:630 genetic disease ISO RGD:1343070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8865866 Nmur2 neuromedin U receptor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343070 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8865878 Dync1i2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732025 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8865878 Dync1i2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:630 genetic disease ISO RGD:732025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865878 Dync1i2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:732025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies PMID:25741868|PMID:31079899 8865878 Dync1i2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:9006351 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES ISO RGD:732025 D RGD:7240710 20190918 OMIM 8865878 Dync1i2 dynein cytoplasmic 1 intermediate chain 2 gene DOID:9006351 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES ISO RGD:732025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and structural brain anomalies PMID:25741868|PMID:31079899 8865912 LOC102018145 cytochrome P450 4V2 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:1312886 D RGD:7240710 20180130 OMIM 8865912 LOC102018145 cytochrome P450 4V2 gene DOID:0050664 Bietti crystalline corneoretinal dystrophy ISO RGD:1312886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy PMID:15042513|PMID:15937078|PMID:16088246|PMID:16179904|PMID:16199547|PMID:17962476|PMID:18398705|PMID:21385027|PMID:21565171|PMID:22087103|PMID:22497028|PMID:22693542|PMID:22772592|PMID:23221965|PMID:23538635|PMID:23661369|PMID:24033266|PMID:24480711|PMID:24739949|PMID:25118264|PMID:25356976|PMID:25593508|PMID:25611614|PMID:25741868|PMID:26971461|PMID:27658286|PMID:28051075|PMID:28492532|PMID:28512305|PMID:28698241|PMID:28763560|PMID:28848678|PMID:29691984|PMID:29785639|PMID:30429639|PMID:31512983|PMID:31960602|PMID:33090715|PMID:33546218 8865912 LOC102018145 cytochrome P450 4V2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 8865912 LOC102018145 cytochrome P450 4V2 gene DOID:10584 retinitis pigmentosa ISO RGD:1312886 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24480711|PMID:28041643|PMID:28492532 8865912 LOC102018145 cytochrome P450 4V2 gene DOID:10584 retinitis pigmentosa ISO RGD:1312886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24480711|PMID:28041643|PMID:28051075|PMID:28492532|PMID:33090715 8865912 LOC102018145 cytochrome P450 4V2 gene DOID:12849 autistic disorder ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8865912 LOC102018145 cytochrome P450 4V2 gene DOID:2229 factor XI deficiency ISO RGD:1312886 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:32581362|PMID:34355501 8865912 LOC102018145 cytochrome P450 4V2 gene DOID:2566 corneal dystrophy ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive | ClinVar Annotator: match by term: Corneal dystrophy PMID:15042513|PMID:15937078|PMID:23221965|PMID:24480711|PMID:25741868|PMID:28492532 8865912 LOC102018145 cytochrome P450 4V2 gene DOID:630 genetic disease ISO RGD:1312886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8865912 LOC102018145 cytochrome P450 4V2 gene DOID:8501 fundus dystrophy ISO RGD:1312886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15042513|PMID:15937078|PMID:22772592|PMID:23221965|PMID:24033266|PMID:25118264|PMID:25356976|PMID:25593508|PMID:25611614|PMID:25741868|PMID:26971461|PMID:28051075|PMID:28492532|PMID:28848678 8865912 LOC102018145 cytochrome P450 4V2 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1312886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8865927 Rps6kb2 ribosomal protein S6 kinase B2 gene DOID:1059 intellectual disability ISO RGD:1313003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8865927 Rps6kb2 ribosomal protein S6 kinase B2 gene DOID:630 genetic disease ISO RGD:1313003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865927 Rps6kb2 ribosomal protein S6 kinase B2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1313003 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8865927 Rps6kb2 ribosomal protein S6 kinase B2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1313003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8865927 Rps6kb2 ribosomal protein S6 kinase B2 gene DOID:9008939 Breast Neoplasms ISO RGD:1313003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953835 8865960 Krt23 keratin 23 gene DOID:630 genetic disease ISO RGD:1318841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8865972 Tmie transmembrane inner ear gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1343102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615 8865972 Tmie transmembrane inner ear gene DOID:0110512 autosomal recessive nonsyndromic deafness 6 ISO RGD:1343102 D RGD:7240710 20180130 OMIM 8865972 Tmie transmembrane inner ear gene DOID:0110512 autosomal recessive nonsyndromic deafness 6 ISO RGD:1343102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 | ClinVar Annotator: match by term: TMIE-related condition PMID:12145746|PMID:16389551|PMID:19438934|PMID:24033266|PMID:24416283|PMID:24875298|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:35710363|PMID:8593615 8865972 Tmie transmembrane inner ear gene DOID:10003 sensorineural hearing loss ISO RGD:1343102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615 8865972 Tmie transmembrane inner ear gene DOID:630 genetic disease ISO RGD:1343102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 8865972 Tmie transmembrane inner ear gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8865972 Tmie transmembrane inner ear gene DOID:9004538 Hearing Loss ISO RGD:1343102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:12145746|PMID:19438934|PMID:25741868|PMID:30303587|PMID:30311386|PMID:8593615 8865972 Tmie transmembrane inner ear gene DOID:9004538 Hearing Loss ISO RGD:1343102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:12145746|PMID:19438934|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:8593615 8866003 Hspa6 heat shock protein family A (Hsp70) member 6 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1346401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 8866003 Hspa6 heat shock protein family A (Hsp70) member 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8866003 Hspa6 heat shock protein family A (Hsp70) member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1346401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8866003 Hspa6 heat shock protein family A (Hsp70) member 6 gene DOID:630 genetic disease ISO RGD:1346401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866003 Hspa6 heat shock protein family A (Hsp70) member 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8866003 Hspa6 heat shock protein family A (Hsp70) member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8866009 Slc14a2 solute carrier family 14 member 2 gene DOID:0060356 Vici syndrome ISO RGD:731952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8866009 Slc14a2 solute carrier family 14 member 2 gene DOID:1059 intellectual disability ISO RGD:731952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8866009 Slc14a2 solute carrier family 14 member 2 gene DOID:630 genetic disease ISO RGD:731952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866009 Slc14a2 solute carrier family 14 member 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:731952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8866049 Gpr55 G protein-coupled receptor 55 gene DOID:0060476 Perlman syndrome ISO RGD:1348516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8866049 Gpr55 G protein-coupled receptor 55 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8866049 Gpr55 G protein-coupled receptor 55 gene DOID:10283 prostate cancer ISO RGD:1348516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8866049 Gpr55 G protein-coupled receptor 55 gene DOID:14566 disease of cellular proliferation ISO RGD:1348516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27423937 8866049 Gpr55 G protein-coupled receptor 55 gene DOID:4195 hyperglycemia ISO RGD:1348516 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30148676 8866049 Gpr55 G protein-coupled receptor 55 gene DOID:630 genetic disease ISO RGD:1348516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866049 Gpr55 G protein-coupled receptor 55 gene DOID:9004657 Weight Gain ISO RGD:1348516 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30148676 8866049 Gpr55 G protein-coupled receptor 55 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1348516 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30148676 8866063 Klhl40 kelch like family member 40 gene DOID:0110930 nemaline myopathy 8 ISO RGD:1313352 D RGD:7240710 20180130 OMIM 8866063 Klhl40 kelch like family member 40 gene DOID:0110930 nemaline myopathy 8 ISO RGD:1313352 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 8 PMID:16199547|PMID:17576681|PMID:23746549|PMID:24033266|PMID:24960163|PMID:25721947|PMID:25741868|PMID:26467025|PMID:26578207|PMID:27528495|PMID:27762439|PMID:28492532|PMID:28973083|PMID:31360996|PMID:32352246|PMID:32403337|PMID:34930662|PMID:9536098 8866063 Klhl40 kelch like family member 40 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1313352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8866063 Klhl40 kelch like family member 40 gene DOID:630 genetic disease ISO RGD:1313352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1352041 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Recessive PMID:21208200|PMID:25741868|PMID:27751653|PMID:28635954 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1352041 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1352041 D RGD:7240710 20180130 OMIM 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1352041 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:11241493|PMID:17576681|PMID:21208200|PMID:21494555|PMID:22628388|PMID:23664116|PMID:23664119|PMID:23664120|PMID:24002164|PMID:24336790|PMID:25326635|PMID:25497877|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752647|PMID:26998597|PMID:27549087|PMID:27751653|PMID:27784775|PMID:28251916|PMID:28335620|PMID:28492532|PMID:28635954|PMID:28832565|PMID:28883039|PMID:29273277|PMID:29528393|PMID:30373780|PMID:31561939|PMID:31692161|PMID:32056343|PMID:32057122|PMID:32581362|PMID:33060286|PMID:7887410|PMID:8114789|PMID:8981948|PMID:9536098|PMID:9713859 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0070350 spinal muscular atrophy with predominant lower extremity 2B ISO RGD:1352041 D RGD:7240710 20200325 OMIM 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0070350 spinal muscular atrophy with predominant lower extremity 2B ISO RGD:1352041 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant PMID:21208200|PMID:25741868|PMID:27751653|PMID:28492532|PMID:28635954|PMID:30054298 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0070351 spinal muscular atrophy with predominant lower extremity 1 ISO RGD:1352041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant PMID:28492532 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0080000 muscular disease ISO RGD:1352041 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:24336790|PMID:25741868|PMID:28492532|PMID:32581362 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias ISO RGD:1352041 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION PMID:25741868|PMID:28492532 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1352041 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A PMID:11241493|PMID:21208200|PMID:23664120|PMID:28492532 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1352041 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant PMID:22628388|PMID:23664116|PMID:23664119|PMID:23664120|PMID:24336790|PMID:25497877|PMID:25741868|PMID:26467025|PMID:27549087|PMID:27784775|PMID:28251916|PMID:28492532|PMID:28832565|PMID:28883039|PMID:32581362|PMID:8114789 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:0111205 autosomal dominant distal hereditary motor neuronopathy 12 ISO RGD:1352041 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B PMID:24002164|PMID:28492532 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25802885|PMID:28492532 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1352041 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:22628388|PMID:23664116|PMID:23664119|PMID:23664120|PMID:25497877|PMID:25741868|PMID:27784775|PMID:28251916|PMID:28492532|PMID:8114789 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:1826 epilepsy ISO RGD:1352041 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:30054298 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23664116|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28492532|PMID:28832565 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:423 myopathy ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:24336790|PMID:25741868|PMID:28492532|PMID:32581362 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:607 paraplegia ISO RGD:1352041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26998597|PMID:28492532 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:630 genetic disease ISO RGD:1352041 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23664116|PMID:23664120|PMID:25741868|PMID:25802885|PMID:26467025|PMID:26752647|PMID:26998597|PMID:27549087|PMID:27751653|PMID:27784775|PMID:28335620|PMID:28492532|PMID:28635954|PMID:28832565|PMID:29528393|PMID:30054298|PMID:30373780|PMID:32056343|PMID:8981948|PMID:9536098|PMID:9713859 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8866073 Bicd2 BICD cargo adaptor 2 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:1352041 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 PMID:21208200|PMID:25741868|PMID:27751653|PMID:28635954 8866090 Rab13 RAB13, member RAS oncogene family gene DOID:0070048 GAND syndrome ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 8866090 Rab13 RAB13, member RAS oncogene family gene DOID:0080600 COVID-19 ISO RGD:733233 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8866090 Rab13 RAB13, member RAS oncogene family gene DOID:0111940 immunodeficiency 42 ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8866090 Rab13 RAB13, member RAS oncogene family gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8866090 Rab13 RAB13, member RAS oncogene family gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8866090 Rab13 RAB13, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8866090 Rab13 RAB13, member RAS oncogene family gene DOID:5812 MHC class II deficiency ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8866090 Rab13 RAB13, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:733233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866090 Rab13 RAB13, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8866111 Plpp2 phospholipid phosphatase 2 gene DOID:630 genetic disease ISO RGD:734254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866111 Plpp2 phospholipid phosphatase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8866129 Inka2 inka box actin regulator 2 gene DOID:630 genetic disease ISO RGD:1603392 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866135 Tmem98 transmembrane protein 98 gene DOID:630 genetic disease ISO RGD:1607062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866135 Tmem98 transmembrane protein 98 gene DOID:9008422 Nanophthalmos 4 ISO RGD:1607062 D RGD:7240710 20180130 OMIM 8866135 Tmem98 transmembrane protein 98 gene DOID:9008422 Nanophthalmos 4 ISO RGD:1607062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nanophthalmos 4 PMID:24852644|PMID:26392740 8866145 Esrrb estrogen related receptor beta gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1342767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:23967202|PMID:24033266|PMID:30303587|PMID:33524517 8866145 Esrrb estrogen related receptor beta gene DOID:0110493 autosomal recessive nonsyndromic deafness 35 ISO RGD:1342767 D RGD:7240710 20180130 OMIM 8866145 Esrrb estrogen related receptor beta gene DOID:0110493 autosomal recessive nonsyndromic deafness 35 ISO RGD:1342767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 35 PMID:12529709|PMID:18179891|PMID:22951369|PMID:23767834|PMID:24033266|PMID:25342930|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29636544|PMID:30828346|PMID:31389194 8866145 Esrrb estrogen related receptor beta gene DOID:1059 intellectual disability ISO RGD:1342767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8866145 Esrrb estrogen related receptor beta gene DOID:12930 dilated cardiomyopathy ISO RGD:1621573 D RGD:9068941 20220825 MouseDO 8866145 Esrrb estrogen related receptor beta gene DOID:5426 primary ovarian insufficiency ISO RGD:1342767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8866145 Esrrb estrogen related receptor beta gene DOID:630 genetic disease ISO RGD:1342767 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:30311386 8866145 Esrrb estrogen related receptor beta gene DOID:9004538 Hearing Loss ISO RGD:1342767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:23967202|PMID:24033266|PMID:28492532|PMID:30303587|PMID:30311386|PMID:33524517 8866156 Cep97 centrosomal protein 97 gene DOID:630 genetic disease ISO RGD:1343045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8866156 Cep97 centrosomal protein 97 gene DOID:9008086 Developmental Disabilities ISO RGD:1343045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:1351201 D RGD:7240710 20190315 OMIM 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:1351201 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:11489939|PMID:14693719|PMID:16725361|PMID:18414213|PMID:19318379|PMID:21252247|PMID:21347589|PMID:22579592|PMID:22662265|PMID:23273570|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:904979 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:0070215 familial hyperinsulinemic hypoglycemia 4 ISO RGD:1351201 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 PMID:11489939|PMID:14693719|PMID:16725361|PMID:18414213|PMID:19318379|PMID:19417036|PMID:21252247|PMID:21347589|PMID:22579592|PMID:22662265|PMID:23273570|PMID:23275527|PMID:24686051|PMID:25741868|PMID:27104957|PMID:27771675|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408|PMID:904979 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:1351201 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:25741868|PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:1351201 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy PMID:16725361|PMID:21347589|PMID:25741868|PMID:27104957|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:1351201 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia PMID:16725361|PMID:19417036|PMID:21347589|PMID:23275527|PMID:25741868|PMID:27104957|PMID:27771675|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:2018 hyperinsulinism ISO RGD:1351201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:25741868|PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:5844 myocardial infarction ISO RGD:69321 D RGD:9068941 20200609 RGD PMID:11481570|REF_RGD_ID:2302229 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:1351201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1351201 D RGD:7240710 20190315 OMIM 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:1351201 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:16199547|PMID:16725361|PMID:18414213|PMID:19318379|PMID:19417036|PMID:21252247|PMID:21347589|PMID:22579592|PMID:22662265|PMID:23275527|PMID:24686051|PMID:25741868|PMID:27104957|PMID:27771675|PMID:28492532|PMID:29280746|PMID:32876354|PMID:34055426|PMID:34547194|PMID:8825408 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69321 D RGD:9068941 20200609 RGD PMID:7050060|REF_RGD_ID:2302232 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1351201 D RGD:9068941 20200609 RGD DNA:deletion:cds (human) PMID:14693719|REF_RGD_ID:2306664 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9351 diabetes mellitus ISO RGD:1351201 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:19417036|PMID:21347589|PMID:22662265|PMID:25741868|PMID:27104957|PMID:27771675|PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9970 obesity ISO RGD:1351201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8866197 Hadh hydroxyacyl-CoA dehydrogenase gene DOID:9970 obesity ISO RGD:69321 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:16088331|REF_RGD_ID:2302228 8866224 Mri1 methylthioribose-1-phosphate isomerase 1 gene DOID:1289 neurodegenerative disease ISO RGD:1604271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe cystic degeneration of the brain PMID:25558065 8866224 Mri1 methylthioribose-1-phosphate isomerase 1 gene DOID:630 genetic disease ISO RGD:1604271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866233 Rgs20 regulator of G protein signaling 20 gene DOID:630 genetic disease ISO RGD:1312560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866248 Tbpl1 TATA-box binding protein like 1 gene DOID:630 genetic disease ISO RGD:1315592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866262 Bcdin3d BCDIN3 domain containing RNA methyltransferase gene DOID:13501 Moebius syndrome ISO RGD:1601723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:28492532 8866262 Bcdin3d BCDIN3 domain containing RNA methyltransferase gene DOID:630 genetic disease ISO RGD:1601723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866268 Gabarapl1 GABA type A receptor associated protein like 1 gene DOID:0080600 COVID-19 ISO RGD:1317596 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8866268 Gabarapl1 GABA type A receptor associated protein like 1 gene DOID:630 genetic disease ISO RGD:1317596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866276 Cabin1 calcineurin binding protein 1 gene DOID:10283 prostate cancer ISO RGD:732324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8866276 Cabin1 calcineurin binding protein 1 gene DOID:1826 epilepsy ISO RGD:732324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8866276 Cabin1 calcineurin binding protein 1 gene DOID:4001 ovarian carcinoma ISO RGD:732324 D RGD:9068941 20200609 RGD DNA:hypermethylation: : PMID:18757082|REF_RGD_ID:10054392 8866276 Cabin1 calcineurin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:732324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8866276 Cabin1 calcineurin binding protein 1 gene DOID:630 genetic disease ISO RGD:732324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866276 Cabin1 calcineurin binding protein 1 gene DOID:9002457 Experimental Arthritis ISO RGD:732324 D RGD:9068941 20200609 RGD PMID:22275266|REF_RGD_ID:10054391 8866276 Cabin1 calcineurin binding protein 1 gene DOID:9003936 Cardiomegaly ISO RGD:732324 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11248077 8866316 Fermt2 FERM domain containing kindlin 2 gene DOID:11054 urinary bladder cancer ISO RGD:1323441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21624607 8866316 Fermt2 FERM domain containing kindlin 2 gene DOID:13550 angle-closure glaucoma ISO RGD:1323441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 8866316 Fermt2 FERM domain containing kindlin 2 gene DOID:630 genetic disease ISO RGD:1323441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866316 Fermt2 FERM domain containing kindlin 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1323441 D RGD:9068941 20200609 RGD PMID:22391155|REF_RGD_ID:11352307 8866344 Aqp2 aquaporin 2 gene DOID:0050700 cardiomyopathy ISO RGD:70370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12145768 8866344 Aqp2 aquaporin 2 gene DOID:0081061 nephrogenic diabetes insipidus type 2 ISO RGD:70370 D RGD:7240710 20210630 OMIM 8866344 Aqp2 aquaporin 2 gene DOID:0081061 nephrogenic diabetes insipidus type 2 ISO RGD:70370 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diabetes insipidus, nephrogenic, autosomal PMID:10228154|PMID:10564236|PMID:10574954|PMID:10770218|PMID:10997928|PMID:11035038|PMID:11076974|PMID:11143979|PMID:11374071|PMID:11536078|PMID:11853799|PMID:11929850|PMID:12050236|PMID:12191971|PMID:14593099|PMID:14599123|PMID:15509592|PMID:16120822|PMID:16199547|PMID:17192724|PMID:18431594|PMID:18854434|PMID:19147915|PMID:19293543|PMID:19458121|PMID:20403973|PMID:20711567|PMID:22498392|PMID:22644838|PMID:22778181|PMID:23950570|PMID:24033266|PMID:25741868|PMID:26069764|PMID:26442203|PMID:26467025|PMID:27151922|PMID:27156763|PMID:27641679|PMID:28492532|PMID:30773290|PMID:30784238|PMID:33532864|PMID:7512890|PMID:7524315|PMID:7537761|PMID:8793791|PMID:9024277|PMID:9048343|PMID:9302264|PMID:9550615|PMID:9593782|PMID:9649557|PMID:9745427 8866344 Aqp2 aquaporin 2 gene DOID:10763 hypertension ISO RGD:2142 D RGD:9068941 20200609 RGD protein:decreased expression:kidney medulla PMID:16788141|REF_RGD_ID:1601242 8866344 Aqp2 aquaporin 2 gene DOID:10763 hypertension ISO RGD:2142 D RGD:9068941 20200609 RGD protein:increased expression:kidney medulla PMID:16582573|REF_RGD_ID:1601243 8866344 Aqp2 aquaporin 2 gene DOID:11111 hydronephrosis ISO RGD:10182 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, altered localization:kidney:p.S256L PMID:16641094|REF_RGD_ID:2314310 8866344 Aqp2 aquaporin 2 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:70370 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Nephrogenic diabetes insipidus PMID:10228154|PMID:10564236|PMID:10574954|PMID:10770218|PMID:10997928|PMID:11076974|PMID:11143979|PMID:11374071|PMID:14593099|PMID:15509592|PMID:16120822|PMID:16361827|PMID:17192724|PMID:18431594|PMID:18470935|PMID:18473191|PMID:19458121|PMID:20403973|PMID:22644838|PMID:23150186|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27156763|PMID:27641679|PMID:28492532|PMID:7524315|PMID:7537761|PMID:8793791|PMID:9024277|PMID:9048343|PMID:9550615|PMID:9593782 8866344 Aqp2 aquaporin 2 gene DOID:1837 diabetic ketoacidosis ISO RGD:70370 D RGD:9068941 20200609 RGD PMID:12021537|REF_RGD_ID:2314345 8866344 Aqp2 aquaporin 2 gene DOID:630 genetic disease ISO RGD:70370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8866344 Aqp2 aquaporin 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:70370 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased secretion:urine PMID:12218327|REF_RGD_ID:2314343 8866344 Aqp2 aquaporin 2 gene DOID:9005274 Polyuria ISO RGD:2142 D RGD:9068941 20201211 RGD protein:decreased expression:total kidney membrane fraction (rat) PMID:10919858|REF_RGD_ID:2314654 8866344 Aqp2 aquaporin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10182 D RGD:9068941 20200609 RGD protein:decreased expression:kidney collecting duct PMID:15705184|REF_RGD_ID:2314326 8866344 Aqp2 aquaporin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2142 D RGD:9068941 20200609 RGD protein:increased expression:Kidney Medulla PMID:11380083|REF_RGD_ID:2314347 8866344 Aqp2 aquaporin 2 gene DOID:9409 diabetes insipidus ISO RGD:2142 D RGD:9068941 20201211 RGD protein:decreased expression:total kidney membrane fraction (rat) PMID:10919858|REF_RGD_ID:2314654 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:0080490 mucolipidosis type IV ISO RGD:1343892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:2377 multiple sclerosis ISO RGD:1343892 D RGD:9068941 20200609 RGD protein:increased expression:plasma, monocyte (human) PMID:16970683|REF_RGD_ID:2317352 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:2773 contact dermatitis ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:630 genetic disease ISO RGD:1343892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1615149 D RGD:9068941 20200609 RGD PMID:17325342|REF_RGD_ID:2317348 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:707 B-cell lymphoma ISO RGD:1615149 D RGD:9068941 20200609 RGD PMID:10202049|REF_RGD_ID:2317349 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:820 myocarditis ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745696|PMID:12031769 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745696 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:9119 acute myeloid leukemia ISO RGD:1343892 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:11564827|REF_RGD_ID:2317350 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:9256 colorectal cancer ISO RGD:1343892 D RGD:9068941 20200609 RGD protein:decreased expression:colon, rectum, mucosa (human) PMID:16596186|REF_RGD_ID:2317353 8866356 Tnfsf9 TNF superfamily member 9 gene DOID:934 viral infectious disease ISO RGD:1343892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 8866363 Nmbr neuromedin B receptor gene DOID:630 genetic disease ISO RGD:731785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866363 Nmbr neuromedin B receptor gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:731785 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8866363 Nmbr neuromedin B receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24349381 8866371 CUNH11orf71 chromosome unknown C11orf71 homolog gene DOID:1059 intellectual disability ISO RGD:1604001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8866371 CUNH11orf71 chromosome unknown C11orf71 homolog gene DOID:630 genetic disease ISO RGD:1604001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866371 CUNH11orf71 chromosome unknown C11orf71 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8866380 Lsamp limbic system associated membrane protein gene DOID:630 genetic disease ISO RGD:1347242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866399 CUNH3orf18 chromosome unknown C3orf18 homolog gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8866399 CUNH3orf18 chromosome unknown C3orf18 homolog gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8866399 CUNH3orf18 chromosome unknown C3orf18 homolog gene DOID:630 genetic disease ISO RGD:1343802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866413 Asphd2 aspartate beta-hydroxylase domain containing 2 gene DOID:0110271 cataract 23 ISO RGD:1601744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 8866413 Asphd2 aspartate beta-hydroxylase domain containing 2 gene DOID:630 genetic disease ISO RGD:1601744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050214 Lambert-Eaton myasthenic syndrome ISO RGD:10265 D RGD:9068941 20220825 MouseDO 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050704 childhood electroclinical syndrome ISO RGD:10265 D RGD:9068941 20220825 MouseDO 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050753 cerebellar ataxia ISO RGD:735950 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:10371528|PMID:15173248|PMID:19486177|PMID:25735478|PMID:25741868|PMID:26467025|PMID:27066515|PMID:27250579|PMID:27400454|PMID:28252636|PMID:28492532|PMID:31440721|PMID:31719132|PMID:35401678 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050835 generalized dystonia ISO RGD:10265 D RGD:9068941 20220825 MouseDO 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050858 Marshall-Smith syndrome ISO RGD:735950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050952 spastic ataxia ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050956 spinocerebellar ataxia type 6 ISO RGD:735950 D RGD:7240710 20180130 OMIM 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050956 spinocerebellar ataxia type 6 ISO RGD:735950 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 6 PMID:10371528|PMID:10408534|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11439943|PMID:11742003|PMID:12056940|PMID:12707077|PMID:14718690|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15985579|PMID:16306128|PMID:16325861|PMID:16787562|PMID:17142831|PMID:18056581|PMID:18354422|PMID:18434528|PMID:18437043|PMID:18597946|PMID:19344873|PMID:19486177|PMID:19624685|PMID:19811514|PMID:20097664|PMID:20301562|PMID:20301674|PMID:20837964|PMID:21183743|PMID:22249839|PMID:22527033|PMID:23407676|PMID:23831250|PMID:24486772|PMID:24498617|PMID:25326635|PMID:25481746|PMID:25596066|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25969684|PMID:26467025|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27250579|PMID:27400454|PMID:27959697|PMID:28007337|PMID:28252636|PMID:28444220|PMID:28492532|PMID:28742085|PMID:28900389|PMID:28978442|PMID:29053796|PMID:29056246|PMID:29062094|PMID:29100083|PMID:29165669|PMID:29444203|PMID:29482223|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30283815|PMID:31115040|PMID:31139143|PMID:31468518|PMID:31487502|PMID:31719132|PMID:32170034|PMID:33084218|PMID:33163565|PMID:33425808|PMID:33737904|PMID:33790770|PMID:34102571|PMID:34356170|PMID:35401678|PMID:36530930|PMID:9345107 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:7240710 20180130 OMIM 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia with nystagmus | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408533|PMID:10408534|PMID:10699052|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11179022|PMID:11370629|PMID:11409427|PMID:11439943|PMID:11564488|PMID:11723274|PMID:11742003|PMID:11809294|PMID:11814735|PMID:11854167|PMID:11971066|PMID:12056940|PMID:12235360|PMID:12420090|PMID:12707077|PMID:12756131|PMID:14530926|PMID:14718690|PMID:15003170|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15483044|PMID:15622542|PMID:15795222|PMID:15985579|PMID:16043807|PMID:16199547|PMID:16325861|PMID:16602100|PMID:16787562|PMID:16866717|PMID:17119788|PMID:17142831|PMID:17292920|PMID:17495624|PMID:17576681|PMID:17588611|PMID:18056581|PMID:18313928|PMID:18354422|PMID:18434528|PMID:1849839|PMID:18513263|PMID:18541804|PMID:18606230|PMID:18644040|PMID:18940563|PMID:19232643|PMID:19344873|PMID:19484318|PMID:19486177|PMID:19520699|PMID:19586927|PMID:19624685|PMID:19633872|PMID:19811514|PMID:19864665|PMID:20080591|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20396531|PMID:20663518|PMID:20682717|PMID:20837964|PMID:21183743|PMID:21431381|PMID:21454563|PMID:21703448|PMID:21734179|PMID:21927611|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22527033|PMID:22784462|PMID:22942164|PMID:22969264|PMID:23038654|PMID:23071170|PMID:23103419|PMID:23183922|PMID:23344743|PMID:23397224|PMID:23407676|PMID:23831250|PMID:23869231|PMID:23934111|PMID:24033266|PMID:24091540|PMID:24108129|PMID:24270521|PMID:24420976|PMID:24486772|PMID:24498617|PMID:24658662|PMID:24664531|PMID:24996492|PMID:25266619|PMID:25274239|PMID:25274781|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25481746|PMID:25596066|PMID:25640679|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25819952|PMID:25851414|PMID:25969684|PMID:26423924|PMID:26467025|PMID:26633542|PMID:26716990|PMID:26795593|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27165006|PMID:27250579|PMID:27290639|PMID:27400454|PMID:27476654|PMID:27667184|PMID:27871455|PMID:27959697|PMID:28007337|PMID:28166811|PMID:28169007|PMID:28431595|PMID:28444220|PMID:28455667|PMID:28492532|PMID:28540055|PMID:28566750|PMID:28742085|PMID:28900389|PMID:28978442|PMID:29056246|PMID:29100083|PMID:29165669|PMID:29186148|PMID:29343472|PMID:29389947|PMID:29444203|PMID:29482223|PMID:29908077|PMID:29915382|PMID:29924869|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30185235|PMID:30283815|PMID:30692599|PMID:30891074|PMID:31015257|PMID:31139143|PMID:31288946|PMID:31468518|PMID:31487502|PMID:31618753|PMID:31719132|PMID:32238909|PMID:32581362|PMID:33349592|PMID:8734765|PMID:8898206|PMID:9005860|PMID:9329229|PMID:9345107|PMID:9488686|PMID:9536098|PMID:9600739|PMID:97053792|PMID:9915947 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0050990 episodic ataxia type 2 ISO RGD:735950 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408533|PMID:10408534|PMID:10699052|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11179022|PMID:11370629|PMID:11409427|PMID:11439943|PMID:11564488|PMID:11723274|PMID:11742003|PMID:11809294|PMID:11814735|PMID:11854167|PMID:11971066|PMID:12056940|PMID:12235360|PMID:12420090|PMID:12707077|PMID:12736095|PMID:12756131|PMID:14530926|PMID:14592859|PMID:14694040|PMID:14718690|PMID:15003170|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15483044|PMID:15622542|PMID:15743764|PMID:15795222|PMID:15985579|PMID:16043807|PMID:16186543|PMID:16199547|PMID:16306128|PMID:16325861|PMID:16508934|PMID:16583725|PMID:16602100|PMID:16787562|PMID:16866717|PMID:17119788|PMID:17142831|PMID:17292920|PMID:17495624|PMID:17576681|PMID:17588611|PMID:18056581|PMID:18279427|PMID:18313928|PMID:18354422|PMID:18434528|PMID:18437043|PMID:1849839|PMID:18498393|PMID:18513263|PMID:18541804|PMID:18581134|PMID:18597946|PMID:18606230|PMID:18644040|PMID:18940563|PMID:19232643|PMID:19242091|PMID:19344873|PMID:19484318|PMID:19486177|PMID:19520699|PMID:19586927|PMID:19624685|PMID:19633872|PMID:19811514|PMID:19864665|PMID:20080591|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20396531|PMID:20663518|PMID:20682717|PMID:20837964|PMID:21183743|PMID:21431381|PMID:21703448|PMID:21734179|PMID:21768184|PMID:21927611|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22527033|PMID:22784462|PMID:22942164|PMID:22969264|PMID:23038654|PMID:23071170|PMID:23103419|PMID:23183922|PMID:23344743|PMID:23397224|PMID:23407676|PMID:23831250|PMID:23869231|PMID:23934111|PMID:24033266|PMID:24046065|PMID:24091540|PMID:24108129|PMID:24270521|PMID:24420976|PMID:24445160|PMID:24486772|PMID:24498617|PMID:24658662|PMID:24664531|PMID:24996492|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25481746|PMID:25525159|PMID:25596066|PMID:25640679|PMID:25716839|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25784583|PMID:25819952|PMID:25851414|PMID:25969684|PMID:26423924|PMID:26467025|PMID:26633542|PMID:26716990|PMID:26795593|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27165006|PMID:27250579|PMID:27400454|PMID:27476654|PMID:27667184|PMID:27871455|PMID:27959697|PMID:27965395|PMID:28007337|PMID:28169007|PMID:28252636|PMID:28431595|PMID:28444220|PMID:28455667|PMID:28492532|PMID:28540055|PMID:28566750|PMID:28742085|PMID:28856914|PMID:28900389|PMID:28927557|PMID:28978442|PMID:29056246|PMID:29062094|PMID:29100083|PMID:29165669|PMID:29184170|PMID:29186148|PMID:29276004|PMID:29343472|PMID:29389947|PMID:29444203|PMID:29482223|PMID:29713557|PMID:29852413|PMID:29883219|PMID:29908077|PMID:29915382|PMID:29924869|PMID:29926469|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30185235|PMID:30283815|PMID:30301590|PMID:30692599|PMID:30852237|PMID:30891074|PMID:31015257|PMID:31115040|PMID:31139143|PMID:31164858|PMID:31171384|PMID:31288946|PMID:31302675|PMID:31440721|PMID:31447099|PMID:31468518|PMID:31475473|PMID:31487502|PMID:31506931|PMID:31618753|PMID:31692161|PMID:31719132|PMID:31810576|PMID:31824404|PMID:31915071|PMID:32116539|PMID:32170034|PMID:32238909|PMID:32581362|PMID:32910250|PMID:33084218|PMID:33098801|PMID:33121221|PMID:33144682|PMID:33163565|PMID:33233562|PMID:33278787|PMID:33349592|PMID:33425808|PMID:33790770|PMID:33879512|PMID:34085110|PMID:34102571|PMID:34320921|PMID:34356170|PMID:34426522|PMID:34436362|PMID:34631621|PMID:34806130|PMID:35217970|PMID:35401678|PMID:35600082|PMID:35722745|PMID:35837781|PMID:36353133|PMID:36530930|PMID:8734765|PMID:8898206|PMID:9005860|PMID:9329229|PMID:9345107|PMID:9488686|PMID:9536098|PMID:9600739|PMID:97053792|PMID:9915947 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0060041 autism spectrum disorder ISO RGD:735950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0060178 familial hemiplegic migraine ISO RGD:735950 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:10024348|PMID:10408532|PMID:10408534|PMID:10734061|PMID:10987655|PMID:11176968|PMID:11409427|PMID:11439943|PMID:11814735|PMID:11971066|PMID:12056940|PMID:12235360|PMID:12707077|PMID:12756131|PMID:14718690|PMID:15743764|PMID:15795222|PMID:16508934|PMID:17142831|PMID:18056581|PMID:18279427|PMID:18313928|PMID:18581134|PMID:19242091|PMID:19520699|PMID:19624685|PMID:20301562|PMID:20837964|PMID:22000314|PMID:22190617|PMID:22527033|PMID:22969264|PMID:23407676|PMID:23934111|PMID:24270521|PMID:24486772|PMID:24498617|PMID:25266619|PMID:25274239|PMID:25716839|PMID:25735478|PMID:25741868|PMID:25969684|PMID:26467025|PMID:26814174|PMID:27066515|PMID:28169007|PMID:28492532|PMID:28856914|PMID:28900389|PMID:29444203|PMID:29915382|PMID:31692161|PMID:31824404|PMID:33084218|PMID:33098801|PMID:35401678|PMID:36530930|PMID:8734765|PMID:8898206|PMID:9488686|PMID:9566402|PMID:97053792|PMID:9915947 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:735950 D RGD:7240710 20190315 OMIM 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0080454 developmental and epileptic encephalopathy 42 ISO RGD:735950 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 PMID:10024348|PMID:10371528|PMID:10408533|PMID:10455105|PMID:10987655|PMID:11409427|PMID:11439943|PMID:11814735|PMID:11971066|PMID:12056940|PMID:12420090|PMID:12756131|PMID:14718690|PMID:15136697|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15743764|PMID:15795222|PMID:16043807|PMID:16199547|PMID:16325861|PMID:16508934|PMID:16787562|PMID:17576681|PMID:18279427|PMID:18313928|PMID:18354422|PMID:18437043|PMID:18581134|PMID:18597946|PMID:18606230|PMID:19486177|PMID:19520699|PMID:19811514|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20396531|PMID:20682717|PMID:20837964|PMID:21183743|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22969264|PMID:23831250|PMID:23934111|PMID:24091540|PMID:24108129|PMID:24270521|PMID:24486772|PMID:24498617|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25356970|PMID:25481746|PMID:25596066|PMID:25735478|PMID:25741868|PMID:25758715|PMID:26467025|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27165006|PMID:27250579|PMID:27400454|PMID:27476654|PMID:27959697|PMID:28007337|PMID:28169007|PMID:28252636|PMID:28444220|PMID:28455667|PMID:28492532|PMID:28540055|PMID:28566750|PMID:28742085|PMID:28856914|PMID:29056246|PMID:29100083|PMID:29186148|PMID:29486580|PMID:29758562|PMID:29915382|PMID:29926469|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30283815|PMID:30852237|PMID:31015257|PMID:31115040|PMID:31139143|PMID:31440721|PMID:31468518|PMID:31487502|PMID:31506931|PMID:31618753|PMID:31692161|PMID:31719132|PMID:31824404|PMID:32116539|PMID:32170034|PMID:32238909|PMID:32581362|PMID:32860008|PMID:32901917|PMID:32910250|PMID:33098801|PMID:33144682|PMID:33163565|PMID:33278787|PMID:33349592|PMID:33425808|PMID:33790770|PMID:34102571|PMID:34356170|PMID:34531397|PMID:35217970|PMID:35401678|PMID:35600082|PMID:35837781|PMID:36530930|PMID:8898206|PMID:9488686|PMID:9536098|PMID:97053792|PMID:9915947 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0080455 developmental and epileptic encephalopathy 52 ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:11439943|PMID:18437043|PMID:19344873|PMID:25741868|PMID:28492532|PMID:29165669|PMID:30063100|PMID:32170034 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:735950 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:735950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0111181 familial hemiplegic migraine 1 ISO RGD:735950 D RGD:7240710 20180130 OMIM 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0111181 familial hemiplegic migraine 1 ISO RGD:735950 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408534|PMID:10734061|PMID:10987655|PMID:11061267|PMID:11176968|PMID:11409427|PMID:11439943|PMID:11814735|PMID:11960817|PMID:11971066|PMID:12056940|PMID:12111613|PMID:12235360|PMID:12707077|PMID:12756131|PMID:14718690|PMID:15032980|PMID:15240985|PMID:15452324|PMID:15743764|PMID:15795222|PMID:16043807|PMID:16199547|PMID:16508934|PMID:17142831|PMID:18056581|PMID:18279427|PMID:18313928|PMID:18400034|PMID:18437043|PMID:18581134|PMID:19242091|PMID:19344873|PMID:19486177|PMID:19520699|PMID:19586927|PMID:19624685|PMID:20129625|PMID:20301562|PMID:20837964|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22527033|PMID:22969264|PMID:23407676|PMID:23934111|PMID:23961289|PMID:24270521|PMID:24486772|PMID:24498617|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25716839|PMID:25735478|PMID:25741868|PMID:25969684|PMID:26467025|PMID:26814174|PMID:26912519|PMID:27066515|PMID:27250579|PMID:27959697|PMID:28007337|PMID:28169007|PMID:28492532|PMID:28566750|PMID:28856914|PMID:28900389|PMID:28978442|PMID:29056246|PMID:29100083|PMID:29165669|PMID:29444203|PMID:29915382|PMID:30063100|PMID:30283815|PMID:31468518|PMID:31487502|PMID:31506931|PMID:31692161|PMID:31824404|PMID:32170034|PMID:33084218|PMID:33098801|PMID:33144682|PMID:33278787|PMID:34102571|PMID:34436362|PMID:35401678|PMID:35722745|PMID:36530930|PMID:7537420|PMID:8734765|PMID:8898206|PMID:9488686|PMID:9566402|PMID:97053792|PMID:9915947 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0111254 glutaric acidemia I ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:0111962 combined immunodeficiency ISO RGD:735950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:26467025|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:10024 migraine with aura ISO RGD:735950 D RGD:9068941 20200609 RGD DNA:mutation:cds:P.V1457L(human) PMID:10408532|REF_RGD_ID:10054422 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:10024 migraine with aura ISO RGD:735950 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1059 intellectual disability ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:20156848|PMID:24108129|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167989 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1059 intellectual disability ISO RGD:735950 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20129625|PMID:20156848|PMID:24108129|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167989|PMID:34085110 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:11832 visual epilepsy ISO RGD:10265 D RGD:9068941 20220728 RGD PMID:9060410|REF_RGD_ID:10054423 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:12143 neurogenic bladder ISO RGD:735950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurogenic bladder PMID:25741868|PMID:26467025|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:12849 autistic disorder ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:13641 exfoliation syndrome ISO RGD:735950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25706626 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1825 childhood absence epilepsy ISO RGD:2244 D RGD:9068941 20200609 RGD DNA:mutation:cds:752T>A (p.M251K)(rat) PMID:17196942|REF_RGD_ID:1598976 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1825 childhood absence epilepsy ISO RGD:735950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196942 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1826 epilepsy ISO RGD:735950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1923 disorder of sexual development ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:1969 cerebral palsy ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:322 myelitis ISO RGD:735950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myelitis PMID:25741868|PMID:26467025|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:3328 temporal lobe epilepsy ISO RGD:2244 D RGD:9068941 20200609 RGD PMID:10448056|REF_RGD_ID:10054441 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:3413 alpha-mannosidosis ISO RGD:735950 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:4961 bone marrow disease ISO RGD:735950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868|PMID:26467025|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:5077 subependymal giant cell astrocytoma ISO RGD:735950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma PMID:25741868|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:735950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:25741868|PMID:26467025|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:630 genetic disease ISO RGD:735950 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10024348|PMID:10371528|PMID:10408532|PMID:10408533|PMID:10734061|PMID:10987655|PMID:11439943|PMID:11564488|PMID:11723274|PMID:11814735|PMID:11971066|PMID:12056940|PMID:12707077|PMID:12756131|PMID:14592859|PMID:14694040|PMID:14718690|PMID:15003170|PMID:15173248|PMID:15240985|PMID:15452324|PMID:15483044|PMID:15710862|PMID:15795222|PMID:16043807|PMID:16199547|PMID:16306128|PMID:16325861|PMID:16508934|PMID:16787562|PMID:16866717|PMID:17292920|PMID:17495624|PMID:17576681|PMID:17588611|PMID:18279427|PMID:18354422|PMID:18437043|PMID:1849839|PMID:18513263|PMID:18597946|PMID:18644040|PMID:18940563|PMID:19344873|PMID:19484318|PMID:19486177|PMID:19811514|PMID:20080591|PMID:20097664|PMID:20129625|PMID:20156848|PMID:20301562|PMID:20301674|PMID:20837964|PMID:21183743|PMID:21703448|PMID:21734179|PMID:22000314|PMID:22190617|PMID:22249839|PMID:22784462|PMID:22969264|PMID:23103419|PMID:23183922|PMID:23397224|PMID:23831250|PMID:23869231|PMID:23934111|PMID:24033266|PMID:24046065|PMID:24108129|PMID:24270521|PMID:24486772|PMID:24498617|PMID:24996492|PMID:25266619|PMID:25274239|PMID:25326635|PMID:25356970|PMID:25481746|PMID:25525159|PMID:25596066|PMID:25735478|PMID:25741868|PMID:25758715|PMID:25819952|PMID:25851414|PMID:26467025|PMID:26716990|PMID:26795593|PMID:26814174|PMID:27066515|PMID:27250579|PMID:27400454|PMID:27476654|PMID:27580036|PMID:27959697|PMID:28007337|PMID:28169007|PMID:28252636|PMID:28455667|PMID:28492532|PMID:28540055|PMID:28566750|PMID:28742085|PMID:28856914|PMID:29056246|PMID:29062094|PMID:29100083|PMID:29165669|PMID:29186148|PMID:29276004|PMID:29713557|PMID:29852413|PMID:29883219|PMID:29908077|PMID:29915382|PMID:29924869|PMID:29997391|PMID:30011838|PMID:30063100|PMID:30142438|PMID:30167989|PMID:30283815|PMID:31115040|PMID:31139143|PMID:31302675|PMID:31447099|PMID:31468518|PMID:31487502|PMID:31618753|PMID:31692161|PMID:31719132|PMID:31824404|PMID:32170034|PMID:32910250|PMID:33098801|PMID:33163565|PMID:33425808|PMID:33790770|PMID:33879512|PMID:34102571|PMID:34356170|PMID:35401678|PMID:8898206|PMID:9329229|PMID:9488686|PMID:9536098|PMID:97053792|PMID:9915947 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:6364 migraine ISO RGD:735950 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Migraine PMID:22249839|PMID:25741868|PMID:27959697|PMID:28007337|PMID:28492532|PMID:29056246|PMID:29100083|PMID:30283815|PMID:31468518|PMID:31487502 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:681 progressive bulbar palsy ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bulbar palsy PMID:10371528|PMID:12420090|PMID:19486177|PMID:20129625|PMID:20396531|PMID:25735478|PMID:25741868|PMID:26467025|PMID:27250579|PMID:28492532|PMID:28566750|PMID:32581362|PMID:33425808|PMID:35837781 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:8725 vascular dementia ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:25741868|PMID:33268848 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9001211 cerebral venous thrombosis ISO RGD:735950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cerebral venous thrombosis PMID:25741868|PMID:26467025|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9001793 Generalized Epilepsy ISO RGD:735950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:10371528|PMID:12420090|PMID:19486177|PMID:20129625|PMID:20396531|PMID:25735478|PMID:25741868|PMID:26467025|PMID:27250579|PMID:28492532|PMID:28566750|PMID:32581362|PMID:33425808|PMID:35837781 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9001890 Auditory Neuropathy ISO RGD:735950 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:735950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11985388|PMID:16899342 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:735950 D RGD:9068941 20200609 RGD DNA:repeats:cds: PMID:8988170|REF_RGD_ID:10054466 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:735950 D RGD:9068941 20200609 RGD protein:altered expression:Purkinje cell: PMID:10369863|REF_RGD_ID:10054421 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9002121 Spinocerebellar Ataxias onset ISO RGD:735950 D RGD:9068941 20200609 RGD DNA:repeats:cds: PMID:10945665|REF_RGD_ID:1358570 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9004866 Ataxia ISO RGD:10265 D RGD:9068941 20200609 RGD PMID:9060410|REF_RGD_ID:10054423 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9004866 Ataxia ISO RGD:735950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376154 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9005532 Muscle Weakness ISO RGD:735950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:26467025|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9006230 Neurologic Gait Disorders ISO RGD:735950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spastic gait PMID:25741868|PMID:26467025|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9006534 Nervous System Malformations ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:23934111|PMID:25741868|PMID:27476654|PMID:28455667|PMID:28492532|PMID:29186148 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9007 sudden infant death syndrome ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9007428 Muscle Spasticity ISO RGD:735950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868|PMID:26467025|PMID:28492532 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9007552 Sporadic Hemiplegic Migraine ISO RGD:735950 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Sporadic hemiplegic migraine PMID:10408534|PMID:10734061|PMID:11176968|PMID:11439943|PMID:12056940|PMID:12707077|PMID:17142831|PMID:18056581|PMID:19624685|PMID:20301562|PMID:20837964|PMID:22527033|PMID:23407676|PMID:24486772|PMID:24498617|PMID:25741868|PMID:25969684|PMID:26467025|PMID:26814174|PMID:27066515|PMID:28492532|PMID:28900389|PMID:29444203|PMID:33084218|PMID:35401678|PMID:36530930 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:9008086 Developmental Disabilities ISO RGD:735950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16325861|PMID:16787562|PMID:18354422|PMID:20301674|PMID:24486772|PMID:25326635|PMID:25481746|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28742085|PMID:30011838 8866424 Cacna1a calcium voltage-gated channel subunit alpha1 A gene DOID:963 episodic ataxia ISO RGD:735950 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:20129625|PMID:24498617|PMID:26467025|PMID:28492532|PMID:28566750|PMID:34320921 8866487 Tfip11 tuftelin interacting protein 11 gene DOID:0110271 cataract 23 ISO RGD:1322916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 8866487 Tfip11 tuftelin interacting protein 11 gene DOID:630 genetic disease ISO RGD:1322916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866504 Tnni1 troponin I1, slow skeletal type gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732918 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8866504 Tnni1 troponin I1, slow skeletal type gene DOID:1540 parathyroid carcinoma ISO RGD:732918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8866504 Tnni1 troponin I1, slow skeletal type gene DOID:630 genetic disease ISO RGD:732918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866504 Tnni1 troponin I1, slow skeletal type gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732918 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8866504 Tnni1 troponin I1, slow skeletal type gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8866514 Ctdspl2 CTD small phosphatase like 2 gene DOID:2717 Bloom syndrome ISO RGD:1605073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8866514 Ctdspl2 CTD small phosphatase like 2 gene DOID:630 genetic disease ISO RGD:1605073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866514 Ctdspl2 CTD small phosphatase like 2 gene DOID:9256 colorectal cancer ISO RGD:1605073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8866538 Sf3a3 splicing factor 3a subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1318668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8866538 Sf3a3 splicing factor 3a subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1318668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8866538 Sf3a3 splicing factor 3a subunit 3 gene DOID:630 genetic disease ISO RGD:1318668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1313701 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:12840783|PMID:15689448|PMID:16130093|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20576434|PMID:20729548|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22992134|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24314752|PMID:24801232|PMID:25533456|PMID:25535305|PMID:25635128|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27159402|PMID:27447704|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28660205|PMID:29172004|PMID:29406609|PMID:29419890|PMID:30467950|PMID:30564623|PMID:31066050|PMID:31069529|PMID:31127727|PMID:32165824|PMID:32528171|PMID:34167565|PMID:7695699|PMID:8218237|PMID:9536098 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1313701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:0080600 COVID-19 ISO RGD:1313701 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:0111679 glutamate formiminotransferase deficiency ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency PMID:18414213|PMID:24801232|PMID:25741868|PMID:26467025|PMID:28492532 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:12849 autistic disorder ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1313701 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:14791 Leber congenital amaurosis ISO RGD:1313701 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:19884007|PMID:25741868|PMID:28492532|PMID:29419890|PMID:30564623|PMID:31127727|PMID:32165824|PMID:34167565 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:14791 Leber congenital amaurosis ISO RGD:1313701 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:25741868|PMID:28492532|PMID:32165824 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:423 myopathy ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:19884007|PMID:19949035|PMID:25741868|PMID:28492532|PMID:29419890|PMID:31127727|PMID:33481221 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:630 genetic disease ISO RGD:1313701 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15563506|PMID:15689448|PMID:17785673|PMID:17886299|PMID:19344236|PMID:20976770|PMID:24038877|PMID:24271325|PMID:25204870|PMID:25741868|PMID:27854218|PMID:28492532|PMID:30564623|PMID:34167565|PMID:7695699|PMID:8218237 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:8398 osteoarthritis ISO RGD:1313701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313701 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9000534 Ullrich Congenital Muscular Dystrophy 1 ISO RGD:1313701 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant PMID:11381124|PMID:11506412|PMID:12218063|PMID:15563506|PMID:15689448|PMID:16075202|PMID:16199547|PMID:16935502|PMID:17886299|PMID:18366090|PMID:18414213|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:20106987|PMID:20576434|PMID:20729548|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22075033|PMID:23040494|PMID:23757202|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:27854218|PMID:28492532|PMID:29419890|PMID:30467950|PMID:30564623|PMID:31127727|PMID:32528171|PMID:32860008|PMID:33481221|PMID:33537799|PMID:34167565|PMID:7695699|PMID:8218237 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9001550 Bethlem Myopathy 1 susceptibility ISO RGD:1313701 D RGD:9068941 20200609 RGD Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) PMID:8782832|REF_RGD_ID:1600934 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:1313701 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:11381124|PMID:11865138|PMID:12218063|PMID:12840783|PMID:15563506|PMID:15689448|PMID:16130093|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:1788629|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:18852439|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20106987|PMID:20301676|PMID:20576434|PMID:20729548|PMID:20976770|PMID:20981092|PMID:21280092|PMID:21520333|PMID:22075033|PMID:22992134|PMID:23040494|PMID:23170014|PMID:23326386|PMID:23757202|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24134684|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25204870|PMID:25211533|PMID:25326637|PMID:25380242|PMID:25533456|PMID:25535305|PMID:25635128|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27159402|PMID:27363342|PMID:27447704|PMID:27453230|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28600779|PMID:28660205|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:30467950|PMID:30564623|PMID:30755392|PMID:30963254|PMID:31066050|PMID:31069529|PMID:31127727|PMID:32053901|PMID:32065942|PMID:32165824|PMID:32403337|PMID:32528171|PMID:32860008|PMID:33146414|PMID:33250842|PMID:33481221|PMID:34167565|PMID:34440373|PMID:35387801|PMID:4793163|PMID:7695699|PMID:7785673|PMID:8218237|PMID:8782832|PMID:9334230|PMID:9536098 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1305585 D RGD:9068941 20200609 RGD Protein:increased expression:liver PMID:7791542|REF_RGD_ID:1600938 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9005532 Muscle Weakness ISO RGD:1313701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:30755392 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9005560 Congenital Hip Dislocation ISO RGD:1313701 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital hip dislocation PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9005971 Ullrich Congenital Muscular Dystrophy 1B ISO RGD:1313701 D RGD:7240710 20240320 OMIM 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9006719 Bethlem Myopathy 1B ISO RGD:1313701 D RGD:7240710 20240320 OMIM 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9007114 Mobility Limitation ISO RGD:1313701 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9007626 Myosclerosis, Autosomal Recessive ISO RGD:1313701 D RGD:7240710 20180130 OMIM 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9007626 Myosclerosis, Autosomal Recessive ISO RGD:1313701 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL | ClinVar Annotator: match by term: Myosclerosis | ClinVar Annotator: match by term: Myosclerosis, autosomal recessive PMID:12840783|PMID:15689448|PMID:16130093|PMID:16935502|PMID:17576681|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18852439|PMID:19309692|PMID:19564581|PMID:19949035|PMID:20301676|PMID:20576434|PMID:20729548|PMID:20981092|PMID:21280092|PMID:22992134|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24314752|PMID:24801232|PMID:25535305|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27447704|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:30467950|PMID:30564623|PMID:31069529|PMID:31127727|PMID:32165824|PMID:34167565|PMID:4793163|PMID:9536098 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:1313701 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:12840783|PMID:15689448|PMID:16130093|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19309692|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20301676|PMID:20576434|PMID:20729548|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22992134|PMID:23040494|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25533456|PMID:25535305|PMID:25635128|PMID:25741868|PMID:26467025|PMID:26752647|PMID:27159402|PMID:27447704|PMID:27456059|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28660205|PMID:29419890|PMID:30467950|PMID:30564623|PMID:31069529|PMID:31127727|PMID:32165824|PMID:34167565|PMID:9536098 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9263 homocystinuria ISO RGD:1313701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313701 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8866559 Col6a2 collagen type VI alpha 2 chain gene DOID:9884 muscular dystrophy ISO RGD:1313701 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:16199547|PMID:18366090|PMID:20976770|PMID:21280092|PMID:24801232|PMID:25535305|PMID:25741868|PMID:28492532|PMID:33537799 8866602 Cnpy1 canopy FGF signaling regulator 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1603862 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 8866602 Cnpy1 canopy FGF signaling regulator 1 gene DOID:12849 autistic disorder ISO RGD:1603862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8866602 Cnpy1 canopy FGF signaling regulator 1 gene DOID:630 genetic disease ISO RGD:1603862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866609 Aggf1 angiogenic factor with G-patch and FHA domains 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1350142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 8866609 Aggf1 angiogenic factor with G-patch and FHA domains 1 gene DOID:11193 syndactyly ISO RGD:1350142 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868 8866609 Aggf1 angiogenic factor with G-patch and FHA domains 1 gene DOID:630 genetic disease ISO RGD:1350142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866609 Aggf1 angiogenic factor with G-patch and FHA domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8866627 Miga1 mitoguardin 1 gene DOID:630 genetic disease ISO RGD:1605523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866675 Tmem151b transmembrane protein 151B gene DOID:11612 polycystic ovary syndrome ISO RGD:1350981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8866675 Tmem151b transmembrane protein 151B gene DOID:630 genetic disease ISO RGD:1350981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735921 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735921 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:1205 allergic disease ISO RGD:735921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735921 D RGD:9068941 20200609 RGD protein:decreased expression:blood, eosinophil PMID:16734609|REF_RGD_ID:5128618 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:9068941 20200609 RGD PMID:10224351|PMID:20513521|REF_RGD_ID:5128623|REF_RGD_ID:5128625 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:9068941 20200609 RGD DNA:SNP: :c.25091G>A (human) PMID:20592918|REF_RGD_ID:5128614 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735921 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:16217591|REF_RGD_ID:5128626 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735922 D RGD:9068941 20200609 RGD PMID:10848907|PMID:17276963|REF_RGD_ID:5128617|REF_RGD_ID:5128627 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735921 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15286446|REF_RGD_ID:5128619 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:350 mastocytosis ISO RGD:735921 D RGD:9068941 20200609 RGD PMID:21762978|REF_RGD_ID:11354970 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:552 pneumonia ISO RGD:735921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:735921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:9001371 Eosinophilia ISO RGD:735921 D RGD:9068941 20200609 RGD PMID:21762978|REF_RGD_ID:11354970 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:9001472 Nasal Polyps ISO RGD:735921 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus, serum PMID:12752323|REF_RGD_ID:5128621 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:735921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8866688 Il5ra interleukin 5 receptor subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8866716 Mtmr8 myotubularin related protein 8 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1347790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome 8866716 Mtmr8 myotubularin related protein 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8866716 Mtmr8 myotubularin related protein 8 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1347790 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:25741868|PMID:9383023 8866716 Mtmr8 myotubularin related protein 8 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1347790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 8866716 Mtmr8 myotubularin related protein 8 gene DOID:12849 autistic disorder ISO RGD:1347790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8866716 Mtmr8 myotubularin related protein 8 gene DOID:630 genetic disease ISO RGD:1347790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0060337 CEDNIK syndrome ISO RGD:736810 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CEDNIK syndrome PMID:25741868|PMID:26467025|PMID:28492532 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:736810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:736810 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0060903 thrombosis ISO RGD:736810 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0111901 heparin cofactor II deficiency ISO RGD:736810 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: Thrombotic stroke PMID:11204559|PMID:25741868|PMID:2647747|PMID:28492532|PMID:31064749|PMID:34355501|PMID:8562924|PMID:8902986 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0112347 hereditary spastic paraplegia 84 ISO RGD:736810 D RGD:7240710 20211201 OMIM 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:0112347 hereditary spastic paraplegia 84 ISO RGD:736810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 84, autosomal recessive PMID:25741868|PMID:28492532|PMID:34415322 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:1059 intellectual disability ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:11198 DiGeorge syndrome ISO RGD:736810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:11372 megacolon ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:12583 velocardiofacial syndrome ISO RGD:736810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:12849 autistic disorder ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:1826 epilepsy ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:2213 hemorrhagic disease ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:2843 long QT syndrome ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:5419 schizophrenia ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:612 primary immunodeficiency disease ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:630 genetic disease ISO RGD:736810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9002810 Gastrointestinal Defects and Immunodeficiency Syndrome 2 ISO RGD:736810 D RGD:7240710 20220202 OMIM 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9002810 Gastrointestinal Defects and Immunodeficiency Syndrome 2 ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 2 PMID:34415310 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9003871 Venous Thrombosis ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9008217 Hemorrhage ISO RGD:736810 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9008864 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS ISO RGD:736810 D RGD:7240710 20180130 OMIM 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9008864 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS ISO RGD:736810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PMID:25741868|PMID:25855803|PMID:26752647|PMID:28492532|PMID:34415310|PMID:34415322 8866730 Pi4ka phosphatidylinositol 4-kinase alpha gene DOID:9281 phenylketonuria ISO RGD:736810 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 8866796 Magee1 MAGE family member E1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8866796 Magee1 MAGE family member E1 gene DOID:0080600 COVID-19 ISO RGD:1349261 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8866796 Magee1 MAGE family member E1 gene DOID:12849 autistic disorder ISO RGD:1349261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8866796 Magee1 MAGE family member E1 gene DOID:4138 bile duct disease ISO RGD:1349261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30515189 8866796 Magee1 MAGE family member E1 gene DOID:630 genetic disease ISO RGD:1349261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866796 Magee1 MAGE family member E1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8866803 Tada1 transcriptional adaptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8866803 Tada1 transcriptional adaptor 1 gene DOID:630 genetic disease ISO RGD:1606748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866803 Tada1 transcriptional adaptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8866819 Iqsec3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1605175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8866819 Iqsec3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:630 genetic disease ISO RGD:1605175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866819 Iqsec3 IQ motif and Sec7 domain ArfGEF 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8866852 Arfgap2 ADP ribosylation factor GTPase activating protein 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8866852 Arfgap2 ADP ribosylation factor GTPase activating protein 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 8866852 Arfgap2 ADP ribosylation factor GTPase activating protein 2 gene DOID:1059 intellectual disability ISO RGD:1314646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8866852 Arfgap2 ADP ribosylation factor GTPase activating protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8866852 Arfgap2 ADP ribosylation factor GTPase activating protein 2 gene DOID:630 genetic disease ISO RGD:1314646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866852 Arfgap2 ADP ribosylation factor GTPase activating protein 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8866852 Arfgap2 ADP ribosylation factor GTPase activating protein 2 gene DOID:9000918 Disease Progression ISO RGD:1314646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8866879 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1605341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8866879 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1605341 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 8866879 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:1605341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 8866879 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1605341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8866879 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1605341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8866879 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1605341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866879 Mrm1 mitochondrial rRNA methyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8866887 Slc17a4 solute carrier family 17 member 4 gene DOID:630 genetic disease ISO RGD:1314119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866903 Arl6ip1 ADP ribosylation factor like GTPase 6 interacting protein 1 gene DOID:0110812 hereditary spastic paraplegia 61 ISO RGD:1345801 D RGD:7240710 20180130 OMIM 8866903 Arl6ip1 ADP ribosylation factor like GTPase 6 interacting protein 1 gene DOID:0110812 hereditary spastic paraplegia 61 ISO RGD:1345801 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 61 PMID:16199547|PMID:17576681|PMID:24482476|PMID:27848944|PMID:28471035|PMID:28492532|PMID:30237576|PMID:30980493|PMID:31272422|PMID:33188530|PMID:9536098 8866903 Arl6ip1 ADP ribosylation factor like GTPase 6 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1345801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8866903 Arl6ip1 ADP ribosylation factor like GTPase 6 interacting protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8866917 Nudt13 nudix hydrolase 13 gene DOID:630 genetic disease ISO RGD:1349007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866936 Utp4 UTP4 small subunit processome component gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1322745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8866936 Utp4 UTP4 small subunit processome component gene DOID:12236 primary biliary cholangitis ISO RGD:1322745 D RGD:9068941 20200609 RGD North American Indian childhood cirrhosis, OMIM:604901, R565W PMID:12417987|REF_RGD_ID:1600653 8866936 Utp4 UTP4 small subunit processome component gene DOID:13580 cholestasis ISO RGD:1322745 D RGD:9068941 20200609 RGD North American Indian childhood cirrhosis, OMIM:604901, R565W PMID:12417987|REF_RGD_ID:1600653 8866936 Utp4 UTP4 small subunit processome component gene DOID:630 genetic disease ISO RGD:1322745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866936 Utp4 UTP4 small subunit processome component gene DOID:9006899 North American Indian Childhood Cirrhosis ISO RGD:1322745 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary North American Indian childhood cirrhosis PMID:12417987|PMID:16225863|PMID:17576681|PMID:19732766|PMID:20385600|PMID:22916032|PMID:24123366|PMID:25741868|PMID:27535533|PMID:28492532|PMID:9536098 8866963 Tlr6 toll like receptor 6 gene DOID:0060000 infective endocarditis susceptibility ISO RGD:1344850 D RGD:9068941 20210604 RGD DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human) PMID:25213166|REF_RGD_ID:127229900 8866963 Tlr6 toll like receptor 6 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 8866963 Tlr6 toll like receptor 6 gene DOID:1024 leprosy ISO RGD:1344850 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 8866963 Tlr6 toll like receptor 6 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1552386 D RGD:9068941 20200609 RGD PMID:19019963|REF_RGD_ID:4889534 8866963 Tlr6 toll like receptor 6 gene DOID:13564 aspergillosis susceptibility ISO RGD:1344850 D RGD:9068941 20200609 RGD DNA:SNP: :p.S249P (human) PMID:16461792|REF_RGD_ID:4889535 8866963 Tlr6 toll like receptor 6 gene DOID:2841 asthma susceptibility ISO RGD:1344850 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18547625|REF_RGD_ID:4889528 8866963 Tlr6 toll like receptor 6 gene DOID:2841 asthma susceptibility ISO RGD:1344850 D RGD:9068941 20200609 RGD DNA:SNP: :p.S249P (human) PMID:15266299|REF_RGD_ID:4889538 8866963 Tlr6 toll like receptor 6 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1552386 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 8866963 Tlr6 toll like receptor 6 gene DOID:399 tuberculosis susceptibility ISO RGD:1344850 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:18091991|REF_RGD_ID:7246918 8866963 Tlr6 toll like receptor 6 gene DOID:4483 rhinitis ISO RGD:1344850 D RGD:9068941 20200609 RGD associated with Asthma;DNA:SNP: :rs2381289 (human) PMID:20815312|REF_RGD_ID:4145352 8866963 Tlr6 toll like receptor 6 gene DOID:630 genetic disease ISO RGD:1344850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866963 Tlr6 toll like receptor 6 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1552386 D RGD:9068941 20200609 RGD PMID:20070409|REF_RGD_ID:4889532 8866963 Tlr6 toll like receptor 6 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1303030 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 8866963 Tlr6 toll like receptor 6 gene DOID:874 bacterial pneumonia ISO RGD:1303030 D RGD:9068941 20200609 RGD PMID:19844782|REF_RGD_ID:4889533 8866963 Tlr6 toll like receptor 6 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1344850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8866963 Tlr6 toll like receptor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16537705 8866963 Tlr6 toll like receptor 6 gene DOID:9004484 Sepsis ISO RGD:1344850 D RGD:9068941 20230216 RGD mRNA:increased expression:plasma PMID:31002148|REF_RGD_ID:155900762 8866963 Tlr6 toll like receptor 6 gene DOID:9005372 Inflammation ISO RGD:1303030 D RGD:9068941 20200609 RGD PMID:16154916|REF_RGD_ID:4889539 8866963 Tlr6 toll like receptor 6 gene DOID:9005372 Inflammation ISO RGD:1552386 D RGD:9068941 20200609 RGD associated with Respiratory Hypersensitivity PMID:20016195|REF_RGD_ID:4889537 8866979 Styk1 serine/threonine/tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:1348462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8866999 Rae1 ribonucleic acid export 1 gene DOID:630 genetic disease ISO RGD:1323051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867015 Nalcn sodium leak channel, non-selective gene DOID:0060041 autism spectrum disorder ISO RGD:733715 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532|PMID:30504930 8867015 Nalcn sodium leak channel, non-selective gene DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome ISO RGD:733715 D RGD:7240710 20180130 OMIM 8867015 Nalcn sodium leak channel, non-selective gene DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome ISO RGD:733715 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:26938784|PMID:27473021|PMID:27633718|PMID:27681385|PMID:28327206|PMID:28333917|PMID:28454995|PMID:28492532|PMID:30167850|PMID:32698188 8867015 Nalcn sodium leak channel, non-selective gene DOID:0110878 holoprosencephaly 5 ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 8867015 Nalcn sodium leak channel, non-selective gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:27214504|PMID:31680123 8867015 Nalcn sodium leak channel, non-selective gene DOID:1059 intellectual disability ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8867015 Nalcn sodium leak channel, non-selective gene DOID:14701 propionic acidemia ISO RGD:733715 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8867015 Nalcn sodium leak channel, non-selective gene DOID:1826 epilepsy ISO RGD:733715 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26923739 8867015 Nalcn sodium leak channel, non-selective gene DOID:1909 melanoma ISO RGD:733715 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8867015 Nalcn sodium leak channel, non-selective gene DOID:630 genetic disease ISO RGD:733715 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23749988|PMID:24075186|PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:27214504|PMID:27473021|PMID:28133733|PMID:28327206|PMID:28454995|PMID:28492532|PMID:29610177|PMID:32618095|PMID:32668698 8867015 Nalcn sodium leak channel, non-selective gene DOID:9001769 Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability with episodic ataxia and congenital arthrogryposis PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:28454995|PMID:28492532 8867015 Nalcn sodium leak channel, non-selective gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8867015 Nalcn sodium leak channel, non-selective gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8867015 Nalcn sodium leak channel, non-selective gene DOID:9006534 Nervous System Malformations ISO RGD:733715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8867015 Nalcn sodium leak channel, non-selective gene DOID:9006603 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies ISO RGD:733715 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies PMID:25741868 8867015 Nalcn sodium leak channel, non-selective gene DOID:9008582 Developmental Disease ISO RGD:733715 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8867015 Nalcn sodium leak channel, non-selective gene DOID:9008988 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 ISO RGD:733715 D RGD:7240710 20180130 OMIM 8867015 Nalcn sodium leak channel, non-selective gene DOID:9008988 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 ISO RGD:733715 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | ClinVar Annotator: match by term: NALCN-related condition | ClinVar Annotator: match by term: NALCN-related disorders PMID:23749988|PMID:24075186|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29168298|PMID:29610177|PMID:30167850|PMID:30293248 8867065 Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8867065 Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1601929 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867065 Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8867065 Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1601929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8867065 Ntmt2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8867077 Ntn4 netrin 4 gene DOID:10283 prostate cancer ISO RGD:1348678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8867077 Ntn4 netrin 4 gene DOID:630 genetic disease ISO RGD:1348678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867094 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1350349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8867094 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:0060041 autism spectrum disorder ISO RGD:1350349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 8867094 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ISO RGD:1350349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868 8867094 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:11612 polycystic ovary syndrome ISO RGD:1350349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8867094 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:13223 uterine fibroid severity ISO RGD:1350349 D RGD:9068941 20200609 RGD DNA:SNP: :rs12484776(human) PMID:23892540|REF_RGD_ID:14394614 8867094 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:13560 subserous uterine fibroid severity ISO RGD:1350349 D RGD:9068941 20200609 RGD DNA:SNP: :rs12484776(human) PMID:23892540|REF_RGD_ID:14394614 8867094 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:630 genetic disease ISO RGD:1350349 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8867094 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32152250 8867094 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:9004585 GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES ISO RGD:1350349 D RGD:7240710 20210519 OMIM 8867094 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:9004585 GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES ISO RGD:1350349 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay with speech and behavioral abnormalities | ClinVar Annotator: match by term: TNRC6B-related condition PMID:25741868|PMID:29463886|PMID:32152250|PMID:33004838 8867094 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:9008086 Developmental Disabilities ISO RGD:1350349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8867094 Tnrc6b trinucleotide repeat containing adaptor 6B gene DOID:9008582 Developmental Disease ISO RGD:1350349 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8867141 Rasgef1c RasGEF domain family member 1C gene DOID:630 genetic disease ISO RGD:1323065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867158 Sec61b SEC61 translocon subunit beta gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8867158 Sec61b SEC61 translocon subunit beta gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8867158 Sec61b SEC61 translocon subunit beta gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8867158 Sec61b SEC61 translocon subunit beta gene DOID:1059 intellectual disability ISO RGD:1312761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8867158 Sec61b SEC61 translocon subunit beta gene DOID:12712 nephronophthisis ISO RGD:1312761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8867158 Sec61b SEC61 translocon subunit beta gene DOID:14004 thoracic aortic aneurysm ISO RGD:1312761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8867158 Sec61b SEC61 translocon subunit beta gene DOID:630 genetic disease ISO RGD:1312761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867165 Pgap4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:1059 intellectual disability ISO RGD:1316281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive 8867165 Pgap4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1316281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 8867165 Pgap4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:630 genetic disease ISO RGD:1316281 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867165 Pgap4 post-GPI attachment to proteins GalNAc transferase 4 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1316281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 8867176 G3bp2 G3BP stress granule assembly factor 2 gene DOID:630 genetic disease ISO RGD:1602228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867176 G3bp2 G3BP stress granule assembly factor 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1602228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8867214 Mrpl30 mitochondrial ribosomal protein L30 gene DOID:630 genetic disease ISO RGD:1317834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867228 Rps20 ribosomal protein S20 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:736603 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:25741868|PMID:32790018 8867228 Rps20 ribosomal protein S20 gene DOID:3883 Lynch syndrome ISO RGD:736603 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer PMID:25741868|PMID:28492532 8867228 Rps20 ribosomal protein S20 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736603 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24941021|PMID:25741868|PMID:28492532 8867245 Gjb4 gap junction protein beta 4 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1352157 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.F137L (human) PMID:11017804|REF_RGD_ID:1598971 8867245 Gjb4 gap junction protein beta 4 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1352157 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.C86S (c.256T>A) (human) PMID:23037955|REF_RGD_ID:12437072 8867245 Gjb4 gap junction protein beta 4 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:1352157 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:multiple PMID:12648223|REF_RGD_ID:1598970 8867245 Gjb4 gap junction protein beta 4 gene DOID:0080248 erythrokeratodermia variabilis et progressiva 2 ISO RGD:1352157 D RGD:7240710 20190315 OMIM 8867245 Gjb4 gap junction protein beta 4 gene DOID:0080248 erythrokeratodermia variabilis et progressiva 2 ISO RGD:1352157 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2 PMID:11017804|PMID:11933201|PMID:12648223|PMID:148984|PMID:25741868|PMID:28492532|PMID:6437964 8867245 Gjb4 gap junction protein beta 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8867245 Gjb4 gap junction protein beta 4 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1352157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:17259707|PMID:25333454|PMID:25741868|PMID:28492532 8867245 Gjb4 gap junction protein beta 4 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1352157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:17259707|PMID:25333454|PMID:25741868|PMID:28492532 8867245 Gjb4 gap junction protein beta 4 gene DOID:0111195 erythrokeratodermia variabilis et progressiva 1 ISO RGD:1352157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 PMID:25741868 8867245 Gjb4 gap junction protein beta 4 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1352157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16297190 8867245 Gjb4 gap junction protein beta 4 gene DOID:630 genetic disease ISO RGD:1352157 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8867251 Adar adenosine deaminase RNA specific gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8867251 Adar adenosine deaminase RNA specific gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:736989 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:19060901|PMID:20301648|PMID:23001123|PMID:24033266|PMID:24262145|PMID:25456137|PMID:25604658|PMID:25741868|PMID:26629815|PMID:28139822|PMID:28492532|PMID:28561207|PMID:29221912|PMID:29603717|PMID:31772029|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:35859177|PMID:9889202 8867251 Adar adenosine deaminase RNA specific gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736989 D RGD:7240710 20180130 OMIM 8867251 Adar adenosine deaminase RNA specific gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:736989 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:12916015|PMID:15102079|PMID:15146470|PMID:15347341|PMID:15489923|PMID:15659327|PMID:15955093|PMID:16199547|PMID:16536805|PMID:16817193|PMID:16917490|PMID:16935814|PMID:17225010|PMID:17569068|PMID:17576681|PMID:18705826|PMID:19017046|PMID:19060901|PMID:20069304|PMID:20186421|PMID:20301648|PMID:20439151|PMID:21182352|PMID:21211811|PMID:21924887|PMID:21933234|PMID:22336994|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:24950769|PMID:25243380|PMID:25326637|PMID:25456137|PMID:25468572|PMID:25604658|PMID:25640679|PMID:25741868|PMID:25982145|PMID:26372505|PMID:26629815|PMID:26802932|PMID:26892242|PMID:27937139|PMID:28139822|PMID:28492532|PMID:28502085|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29536976|PMID:29603717|PMID:29691679|PMID:29775506|PMID:29896739|PMID:29915444|PMID:30564185|PMID:30692772|PMID:30755392|PMID:31423758|PMID:31772029|PMID:32593192|PMID:32801363|PMID:32996714|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:35551623|PMID:35859177|PMID:8627722|PMID:9536098|PMID:9889202 8867251 Adar adenosine deaminase RNA specific gene DOID:0111940 immunodeficiency 42 ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8867251 Adar adenosine deaminase RNA specific gene DOID:0111962 combined immunodeficiency ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868 8867251 Adar adenosine deaminase RNA specific gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8867251 Adar adenosine deaminase RNA specific gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8867251 Adar adenosine deaminase RNA specific gene DOID:10534 stomach cancer exacerbates ISO RGD:736989 D RGD:9068941 20210402 RGD mRNA:increased expression:mucosa of stomach (human) PMID:30563560|REF_RGD_ID:14700703 8867251 Adar adenosine deaminase RNA specific gene DOID:10907 microcephaly ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8867251 Adar adenosine deaminase RNA specific gene DOID:11166 papillomavirus infectious disease exacerbates ISO RGD:736989 D RGD:9068941 20210402 RGD associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human) PMID:31882741|REF_RGD_ID:125097510 8867251 Adar adenosine deaminase RNA specific gene DOID:1540 parathyroid carcinoma ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8867251 Adar adenosine deaminase RNA specific gene DOID:2030 anxiety disorder ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anxiety PMID:25741868 8867251 Adar adenosine deaminase RNA specific gene DOID:2121 ectodermal dysplasia ISO RGD:736989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aplasia cutis congenita PMID:25741868|PMID:28492532|PMID:30755392 8867251 Adar adenosine deaminase RNA specific gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:736989 D RGD:9068941 20210402 RGD protein:increased expression:cervix squamous epithelium (human) PMID:28109322|REF_RGD_ID:125097518 8867251 Adar adenosine deaminase RNA specific gene DOID:5082 liver cirrhosis ameliorates ISO RGD:736989 D RGD:9068941 20210402 RGD associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNPs:exon 2, 3' utr:multiple (human) PMID:29018269|REF_RGD_ID:125097516 8867251 Adar adenosine deaminase RNA specific gene DOID:5812 MHC class II deficiency ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8867251 Adar adenosine deaminase RNA specific gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital combined immunodeficiency PMID:25741868 8867251 Adar adenosine deaminase RNA specific gene DOID:630 genetic disease ISO RGD:736989 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15146470|PMID:15659327|PMID:19060901|PMID:20186421|PMID:20300939|PMID:20301648|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:24950769|PMID:25456137|PMID:25468572|PMID:25604658|PMID:25741868|PMID:26629815|PMID:28139822|PMID:28492532|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29603717|PMID:29896739|PMID:29915444|PMID:31772029|PMID:32593192|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:35859177|PMID:9889202 8867251 Adar adenosine deaminase RNA specific gene DOID:8927 learning disability ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868 8867251 Adar adenosine deaminase RNA specific gene DOID:9000469 Viral Myocarditis ISO RGD:732453 D RGD:9068941 20210402 RGD associated with Coxsackievirus Infections PMID:27584568|REF_RGD_ID:125097517 8867251 Adar adenosine deaminase RNA specific gene DOID:9000469 Viral Myocarditis ISO RGD:732453 D RGD:9068941 20210402 RGD protein:alternative form:heart (mouse) PMID:30669342|REF_RGD_ID:125097512 8867251 Adar adenosine deaminase RNA specific gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:736989 D RGD:9068941 20210402 RGD associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human) PMID:29906476|REF_RGD_ID:125097514 8867251 Adar adenosine deaminase RNA specific gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:736989 D RGD:9068941 20210402 RGD DNA:SNP:exon: (rs1127309) (human) PMID:26911666|REF_RGD_ID:11554370 8867251 Adar adenosine deaminase RNA specific gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736989 D RGD:9068941 20210402 RGD DNA:silent mutation:CDS:p.V849V (rs1127309) (human) PMID:19434718|REF_RGD_ID:125097513 8867251 Adar adenosine deaminase RNA specific gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:736989 D RGD:9068941 20210402 RGD DNA:snps, haplotype: (rs7515339, rs903323) (human) PMID:17979507|REF_RGD_ID:38599150 8867251 Adar adenosine deaminase RNA specific gene DOID:9004610 Acute Lung Injury treatment ISO RGD:71099 D RGD:9068941 20200609 RGD PMID:18520702|REF_RGD_ID:10755331 8867251 Adar adenosine deaminase RNA specific gene DOID:9005099 Salmonella Infections, Animal ISO RGD:732453 D RGD:9068941 20210402 RGD mRNA:splice variant:liver (mouse) PMID:12228285|REF_RGD_ID:125097511 8867251 Adar adenosine deaminase RNA specific gene DOID:9007522 Aicardi-Goutieres Syndrome 6 ISO RGD:736989 D RGD:7240710 20180130 OMIM 8867251 Adar adenosine deaminase RNA specific gene DOID:9007522 Aicardi-Goutieres Syndrome 6 ISO RGD:736989 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 PMID:15146470|PMID:15955093|PMID:16817193|PMID:17576681|PMID:19017046|PMID:19060901|PMID:20301648|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:25243380|PMID:25326637|PMID:25456137|PMID:25468572|PMID:25604658|PMID:25741868|PMID:25982145|PMID:26372505|PMID:26629815|PMID:26802932|PMID:27937139|PMID:28139822|PMID:28492532|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29536976|PMID:29603717|PMID:29691679|PMID:29775506|PMID:29915444|PMID:30564185|PMID:30755392|PMID:31772029|PMID:32593192|PMID:32801363|PMID:32996714|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:35859177|PMID:9536098|PMID:9889202 8867251 Adar adenosine deaminase RNA specific gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:736989 D RGD:9068941 20210402 RGD DNA:SNP:enhancer: (rs4845384) (human) PMID:24351124|REF_RGD_ID:125097515 8867251 Adar adenosine deaminase RNA specific gene DOID:9008939 Breast Neoplasms ISO RGD:736989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28188287 8867251 Adar adenosine deaminase RNA specific gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8867251 Adar adenosine deaminase RNA specific gene DOID:9256 colorectal cancer ISO RGD:736989 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8867305 Nln neurolysin gene DOID:0080600 COVID-19 ISO RGD:731408 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8867305 Nln neurolysin gene DOID:630 genetic disease ISO RGD:731408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867305 Nln neurolysin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8867331 Plscr1 phospholipid scramblase 1 gene DOID:0080600 COVID-19 ISO RGD:1350472 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8867331 Plscr1 phospholipid scramblase 1 gene DOID:0080600 COVID-19 ISO RGD:1350472 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 8867331 Plscr1 phospholipid scramblase 1 gene DOID:630 genetic disease ISO RGD:1350472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867331 Plscr1 phospholipid scramblase 1 gene DOID:9001488 Human Influenza ISO RGD:1350472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8867331 Plscr1 phospholipid scramblase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8867349 Ccdc71l coiled-coil domain containing 71 like gene DOID:3007 breast ductal carcinoma ISO RGD:1602288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8867349 Ccdc71l coiled-coil domain containing 71 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8867349 Ccdc71l coiled-coil domain containing 71 like gene DOID:630 genetic disease ISO RGD:1602288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867356 Mrtfb myocardin related transcription factor B gene DOID:0060040 pervasive developmental disorder ISO RGD:1345947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20442744 8867356 Mrtfb myocardin related transcription factor B gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1345947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F PMID:28492532 8867356 Mrtfb myocardin related transcription factor B gene DOID:630 genetic disease ISO RGD:1345947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867395 Pnpla5 patatin like phospholipase domain containing 5 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1343707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8867395 Pnpla5 patatin like phospholipase domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1343707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8867395 Pnpla5 patatin like phospholipase domain containing 5 gene DOID:630 genetic disease ISO RGD:1343707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867425 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:0070111 Niemann-Pick disease type A ISO RGD:1349313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:1391960|PMID:15221801|PMID:17011332|PMID:18815062|PMID:1885770|PMID:2023926|PMID:21502868|PMID:25741868|PMID:27725636|PMID:28492532|PMID:29995201 8867425 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:0070112 Niemann-Pick disease type B ISO RGD:1349313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:1391960|PMID:15221801|PMID:17011332|PMID:18815062|PMID:1885770|PMID:2023926|PMID:21502868|PMID:25741868|PMID:27725636|PMID:28492532|PMID:29995201 8867425 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1349313 D RGD:9068941 20200609 RGD mRNA:altered expression:brain: PMID:10723070|REF_RGD_ID:10054036 8867425 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1349313 D RGD:9068941 20200609 RGD DNA:polymorphism:intron: PMID:11099823|REF_RGD_ID:10054028 8867425 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1349313 D RGD:9068941 20200609 RGD DNA:deletion:intron: PMID:12727304|REF_RGD_ID:10054031 8867425 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1349313 D RGD:9068941 20200609 RGD DNA:mutations::multiple PMID:9799084|REF_RGD_ID:2301212 8867425 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8867425 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:630 genetic disease ISO RGD:1349313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867425 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:9000998 Brain Injuries ISO RGD:2122 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:12707777|REF_RGD_ID:2301208 8867425 Apbb1 amyloid beta precursor protein binding family B member 1 gene DOID:9001310 Tobacco Use Disorder susceptibility ISO RGD:1349313 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:multiple: PMID:18777128|REF_RGD_ID:10054043 8867455 Znf106 zinc finger protein 106 gene DOID:2717 Bloom syndrome ISO RGD:1343281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8867455 Znf106 zinc finger protein 106 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1616834 D RGD:9068941 20220825 MouseDO 8867455 Znf106 zinc finger protein 106 gene DOID:630 genetic disease ISO RGD:1343281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867455 Znf106 zinc finger protein 106 gene DOID:9256 colorectal cancer ISO RGD:1343281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8867485 Steap2 STEAP2 metalloreductase gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1316016 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:19656261|REF_RGD_ID:13524567 8867485 Steap2 STEAP2 metalloreductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8867485 Steap2 STEAP2 metalloreductase gene DOID:630 genetic disease ISO RGD:1316015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867495 Gpsm2 G protein signaling modulator 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:20602914|PMID:22578326|PMID:30303587|PMID:32747562 8867495 Gpsm2 G protein signaling modulator 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1351498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8867495 Gpsm2 G protein signaling modulator 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351498 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds:p.R127X(human) PMID:20602914|REF_RGD_ID:11552577 8867495 Gpsm2 G protein signaling modulator 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351498 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human) PMID:21348867|REF_RGD_ID:11552574 8867495 Gpsm2 G protein signaling modulator 2 gene DOID:12849 autistic disorder ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8867495 Gpsm2 G protein signaling modulator 2 gene DOID:630 genetic disease ISO RGD:1351498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8867495 Gpsm2 G protein signaling modulator 2 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1351498 D RGD:7240710 20180130 OMIM 8867495 Gpsm2 G protein signaling modulator 2 gene DOID:9000177 Chudley-Mccullough syndrome ISO RGD:1351498 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction PMID:10449658|PMID:20602914|PMID:21348867|PMID:22578326|PMID:22987632|PMID:23208854|PMID:23494849|PMID:24033266|PMID:25741868|PMID:26445815|PMID:26467025|PMID:27312216|PMID:28492532|PMID:32747562 8867495 Gpsm2 G protein signaling modulator 2 gene DOID:9004538 Hearing Loss ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:30311386 8867495 Gpsm2 G protein signaling modulator 2 gene DOID:9008681 Deafness ISO RGD:1351498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 8867518 Zcchc2 zinc finger CCHC-type containing 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343061 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8867518 Zcchc2 zinc finger CCHC-type containing 2 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1343061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8867518 Zcchc2 zinc finger CCHC-type containing 2 gene DOID:3312 bipolar disorder ISO RGD:1343061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8867518 Zcchc2 zinc finger CCHC-type containing 2 gene DOID:630 genetic disease ISO RGD:1343061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867518 Zcchc2 zinc finger CCHC-type containing 2 gene DOID:9001488 Human Influenza ISO RGD:1343061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8867541 Als2cl ALS2 C-terminal like gene DOID:5419 schizophrenia ISO RGD:1605837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 8867541 Als2cl ALS2 C-terminal like gene DOID:630 genetic disease ISO RGD:1605837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867541 Als2cl ALS2 C-terminal like gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1605837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8867593 Gramd1b GRAM domain containing 1B gene DOID:1059 intellectual disability ISO RGD:1606522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8867593 Gramd1b GRAM domain containing 1B gene DOID:5419 schizophrenia ISO RGD:1606522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8867593 Gramd1b GRAM domain containing 1B gene DOID:630 genetic disease ISO RGD:1606522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867593 Gramd1b GRAM domain containing 1B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8867593 Gramd1b GRAM domain containing 1B gene DOID:9007661 Dwarfism ISO RGD:1606522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8867663 Masp1 MBL associated serine protease 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:733853 D RGD:7240710 20180130 OMIM 8867663 Masp1 MBL associated serine protease 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:733853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:17937425|PMID:18266249|PMID:21035106|PMID:21258343|PMID:22966085|PMID:25741868|PMID:28492532|PMID:28534045|PMID:28794230|PMID:29407414|PMID:30601195|PMID:33144682 8867663 Masp1 MBL associated serine protease 1 gene DOID:0060576 3MC syndrome 2 ISO RGD:733853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 8867663 Masp1 MBL associated serine protease 1 gene DOID:0060577 3MC syndrome 3 ISO RGD:733853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 8867663 Masp1 MBL associated serine protease 1 gene DOID:10123 pigmentation disease ISO RGD:733853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 8867663 Masp1 MBL associated serine protease 1 gene DOID:10907 microcephaly ISO RGD:733853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8867663 Masp1 MBL associated serine protease 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8867663 Masp1 MBL associated serine protease 1 gene DOID:5419 schizophrenia ISO RGD:733853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8867663 Masp1 MBL associated serine protease 1 gene DOID:630 genetic disease ISO RGD:733853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29168297|PMID:33144682 8867663 Masp1 MBL associated serine protease 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258343 8867700 Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8867700 Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:0070095 oculocutaneous albinism type IB ISO RGD:1345155 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 1B PMID:25741868 8867700 Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:0112043 non-syndromic X-linked intellectual disability 91 ISO RGD:1345155 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 91 PMID:15915161|PMID:25741868 8867700 Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:10965 spastic diplegia ISO RGD:1345155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic diplegia 8867700 Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:12849 autistic disorder ISO RGD:1345155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8867700 Zdhhc15 zinc finger DHHC-type palmitoyltransferase 15 gene DOID:630 genetic disease ISO RGD:1345155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867716 Gpatch1 G-patch domain containing 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8867716 Gpatch1 G-patch domain containing 1 gene DOID:630 genetic disease ISO RGD:1318991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867716 Gpatch1 G-patch domain containing 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1318991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 8867747 Stk11ip serine/threonine kinase 11 interacting protein gene DOID:1148 polydactyly ISO RGD:1312841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8867747 Stk11ip serine/threonine kinase 11 interacting protein gene DOID:630 genetic disease ISO RGD:1312841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867747 Stk11ip serine/threonine kinase 11 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8867776 Flrt2 fibronectin leucine rich transmembrane protein 2 gene DOID:1059 intellectual disability ISO RGD:1318426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8867776 Flrt2 fibronectin leucine rich transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1318426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867819 Cdkn3 cyclin dependent kinase inhibitor 3 gene DOID:0080600 COVID-19 ISO RGD:1317172 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8867819 Cdkn3 cyclin dependent kinase inhibitor 3 gene DOID:0090043 dystonia 5 ISO RGD:1317172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 8867819 Cdkn3 cyclin dependent kinase inhibitor 3 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1317172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 8867819 Cdkn3 cyclin dependent kinase inhibitor 3 gene DOID:630 genetic disease ISO RGD:1317172 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867819 Cdkn3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1317172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8867819 Cdkn3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1317172 D RGD:9068941 20200609 RGD associated with alcoholism; protein:increased expression:liver PMID:23292002|REF_RGD_ID:15090802 8867819 Cdkn3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1317172 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22390936|REF_RGD_ID:15090800 8867819 Cdkn3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1317172 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:27314282|REF_RGD_ID:15090801 8867819 Cdkn3 cyclin dependent kinase inhibitor 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1317172 D RGD:9068941 20200609 RGD PMID:23292002|REF_RGD_ID:15090802 8867819 Cdkn3 cyclin dependent kinase inhibitor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8867831 Cideb cell death inducing DFFA like effector b gene DOID:0060439 lysinuric protein intolerance ISO RGD:1320650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8867831 Cideb cell death inducing DFFA like effector b gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1310000 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 8867831 Cideb cell death inducing DFFA like effector b gene DOID:10787 premature menopause ISO RGD:1310000 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 8867831 Cideb cell death inducing DFFA like effector b gene DOID:630 genetic disease ISO RGD:1320650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867831 Cideb cell death inducing DFFA like effector b gene DOID:9000265 Specific Granule Deficiency ISO RGD:1320650 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8867831 Cideb cell death inducing DFFA like effector b gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8867840 Scamp5 secretory carrier membrane protein 5 gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1343509 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41 PMID:25741868|PMID:31439720|PMID:33390987 8867840 Scamp5 secretory carrier membrane protein 5 gene DOID:12849 autistic disorder ISO RGD:1343509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071347 8867840 Scamp5 secretory carrier membrane protein 5 gene DOID:1826 epilepsy ISO RGD:68504 D RGD:9068941 20220825 MouseDO 8867840 Scamp5 secretory carrier membrane protein 5 gene DOID:2717 Bloom syndrome ISO RGD:1343509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8867840 Scamp5 secretory carrier membrane protein 5 gene DOID:5419 schizophrenia ISO RGD:1343509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8867840 Scamp5 secretory carrier membrane protein 5 gene DOID:630 genetic disease ISO RGD:1343509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31439720|PMID:32020363|PMID:33390987 8867840 Scamp5 secretory carrier membrane protein 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1343509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:31439720|PMID:33390987 8867840 Scamp5 secretory carrier membrane protein 5 gene DOID:9256 colorectal cancer ISO RGD:1343509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8867854 Klhdc7b kelch domain containing 7B gene DOID:0060041 autism spectrum disorder ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8867854 Klhdc7b kelch domain containing 7B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1602443 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8867854 Klhdc7b kelch domain containing 7B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8867854 Klhdc7b kelch domain containing 7B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8867854 Klhdc7b kelch domain containing 7B gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1602443 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 8867854 Klhdc7b kelch domain containing 7B gene DOID:10581 metachromatic leukodystrophy ISO RGD:1602443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8867854 Klhdc7b kelch domain containing 7B gene DOID:1059 intellectual disability ISO RGD:1602443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8867854 Klhdc7b kelch domain containing 7B gene DOID:630 genetic disease ISO RGD:1602443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867892 Bend3 BEN domain containing 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1347685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8867892 Bend3 BEN domain containing 3 gene DOID:630 genetic disease ISO RGD:1347685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867908 Crip2 cysteine rich protein 2 gene DOID:0080600 COVID-19 ISO RGD:1351980 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8867908 Crip2 cysteine rich protein 2 gene DOID:630 genetic disease ISO RGD:1351980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867954 Ubqln1 ubiquilin 1 gene DOID:630 genetic disease ISO RGD:731465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867954 Ubqln1 ubiquilin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747970 8867970 Tor1b torsin family 1 member B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8867970 Tor1b torsin family 1 member B gene DOID:630 genetic disease ISO RGD:1318195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867970 Tor1b torsin family 1 member B gene DOID:9001488 Human Influenza ISO RGD:1318195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8867979 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1321690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8867979 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1321690 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25558065 8867979 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1321690 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8867979 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1321690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:21681106 8867979 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1321690 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8867979 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8867979 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:630 genetic disease ISO RGD:1321690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8867979 Kctd3 potassium channel tetramerization domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8868002 Dag1 dystroglycan 1 gene DOID:0050453 lissencephaly ISO RGD:1552006 D RGD:9068941 20220825 MouseDO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 8868002 Dag1 dystroglycan 1 gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1344302 D RGD:9068941 20200609 RGD protein:decreased expression:brain, heart, skeletal muscle PMID:11445638|REF_RGD_ID:11537476 8868002 Dag1 dystroglycan 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320792 D RGD:9068941 20200609 RGD PMID:24824861|REF_RGD_ID:11537406 8868002 Dag1 dystroglycan 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1344302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8868002 Dag1 dystroglycan 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1552006 D RGD:9068941 20200609 RGD PMID:18923033|REF_RGD_ID:11537405 8868002 Dag1 dystroglycan 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8868002 Dag1 dystroglycan 1 gene DOID:0060852 Pierson syndrome ISO RGD:1344302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 8868002 Dag1 dystroglycan 1 gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1344302 D RGD:9068941 20200609 RGD protein:increased degradation:skeletal muscle PMID:15833425|REF_RGD_ID:11073211 8868002 Dag1 dystroglycan 1 gene DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ISO RGD:1344302 D RGD:7240710 20180130 OMIM 8868002 Dag1 dystroglycan 1 gene DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P ISO RGD:1344302 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P PMID:10875918|PMID:14678799|PMID:17576681|PMID:21388311|PMID:22237435|PMID:24033266|PMID:24052401|PMID:25503980|PMID:25671699|PMID:25741868|PMID:25934851|PMID:26467025|PMID:28492532|PMID:29036200|PMID:29134705|PMID:29337005|PMID:30450679|PMID:30919572|PMID:31066050|PMID:31097590|PMID:33200426|PMID:9536098 8868002 Dag1 dystroglycan 1 gene DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 ISO RGD:1344302 D RGD:7240710 20180130 OMIM 8868002 Dag1 dystroglycan 1 gene DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 ISO RGD:1344302 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 PMID:24033266|PMID:24052401|PMID:25741868|PMID:25934851|PMID:26467025|PMID:28492532|PMID:29134705 8868002 Dag1 dystroglycan 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1344302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:25741868|PMID:28492532 8868002 Dag1 dystroglycan 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344302 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 8868002 Dag1 dystroglycan 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8868002 Dag1 dystroglycan 1 gene DOID:1059 intellectual disability ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8868002 Dag1 dystroglycan 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1344302 D RGD:9068941 20200609 RGD DNA:SNP: :p.N494H (human) PMID:17196572|REF_RGD_ID:11537474 8868002 Dag1 dystroglycan 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344302 D RGD:9068941 20200609 RGD PMID:7630355|REF_RGD_ID:11552581 8868002 Dag1 dystroglycan 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344302 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle PMID:11445638|REF_RGD_ID:11537476 8868002 Dag1 dystroglycan 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344302 D RGD:9068941 20200609 RGD protein:increased degradation:skeletal muscle PMID:15833425|REF_RGD_ID:11073211 8868002 Dag1 dystroglycan 1 gene DOID:12236 primary biliary cholangitis ISO RGD:621890 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:12177244|REF_RGD_ID:2314895 8868002 Dag1 dystroglycan 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1552006 D RGD:9068941 20220825 MouseDO 8868002 Dag1 dystroglycan 1 gene DOID:3429 inclusion body myositis ISO RGD:732554 D RGD:9068941 20200609 RGD PMID:14972325|REF_RGD_ID:11537409 8868002 Dag1 dystroglycan 1 gene DOID:423 myopathy ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:28492532 8868002 Dag1 dystroglycan 1 gene DOID:5844 myocardial infarction treatment ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:12034665|REF_RGD_ID:11541047 8868002 Dag1 dystroglycan 1 gene DOID:630 genetic disease ISO RGD:1344302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8868002 Dag1 dystroglycan 1 gene DOID:767 muscular atrophy ISO RGD:621890 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius PMID:12107060|REF_RGD_ID:625642 8868002 Dag1 dystroglycan 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:16254495|REF_RGD_ID:11541065 8868002 Dag1 dystroglycan 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8868002 Dag1 dystroglycan 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621890 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:12177244|REF_RGD_ID:2314895 8868002 Dag1 dystroglycan 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8868002 Dag1 dystroglycan 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:25545558|REF_RGD_ID:11541062 8868002 Dag1 dystroglycan 1 gene DOID:9002955 Nerve Degeneration ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:16228655|REF_RGD_ID:11537480 8868002 Dag1 dystroglycan 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:621890 D RGD:9068941 20200609 RGD PMID:21192954|REF_RGD_ID:11541061 8868002 Dag1 dystroglycan 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621890 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle PMID:16323284|REF_RGD_ID:1581689 8868002 Dag1 dystroglycan 1 gene DOID:9537 Lassa fever ISO RGD:1344302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17287727 8868002 Dag1 dystroglycan 1 gene DOID:9884 muscular dystrophy ISO RGD:1318928 D RGD:9068941 20200609 RGD protein:decreased glycosylation:skeletal muscle PMID:11381262|REF_RGD_ID:1358757 8868008 Clgn calmegin gene DOID:630 genetic disease ISO RGD:1343269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868008 Clgn calmegin gene DOID:9007661 Dwarfism ISO RGD:1343269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24571310 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:0080199 colorectal carcinoma ISO RGD:1348038 D RGD:9068941 20200609 RGD PMID:14732230|REF_RGD_ID:1580058 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:10487 Hirschsprung's disease ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29429387 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:2913 acute pancreatitis ISO RGD:1316582 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic acinar cell: PMID:19585519|REF_RGD_ID:9491843 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3068 glioblastoma ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19823589 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3070 high grade glioma ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23383216 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3347 osteosarcoma ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21311599 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1316582 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19585519|REF_RGD_ID:9491843 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1348038 D RGD:9068941 20200609 RGD protein:increased expression:exocrine pancreas: PMID:19585519|REF_RGD_ID:9491843 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348038 D RGD:9068941 20210416 RGD PMID:21165554|REF_RGD_ID:126781701 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:5176 renal Wilms' tumor ISO RGD:1348038 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1348038 D RGD:9068941 20200609 RGD PMID:26919246|REF_RGD_ID:14928318 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9000918 Disease Progression ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24571310 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9001865 Myeloid Leukemia, Accelerated Phase ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24571310 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9003204 Neovascularization, Pathologic ISO RGD:1348038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23383216 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1316582 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic acinar cell: PMID:19585519|REF_RGD_ID:9491843 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1348038 D RGD:9068941 20200609 RGD protein:increased expression:exocrine pancreas: PMID:19585519|REF_RGD_ID:9491843 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9006190 Chronic Pancreatitis ISO RGD:1316582 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic acinar cell: PMID:19585519|REF_RGD_ID:9491843 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9006190 Chronic Pancreatitis ISO RGD:1348038 D RGD:9068941 20200609 RGD protein:increased expression:exocrine pancreas: PMID:19585519|REF_RGD_ID:9491843 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1316582 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 8868043 Bmi1 BMI1 proto-oncogene, polycomb ring finger gene DOID:9119 acute myeloid leukemia ISO RGD:1348038 D RGD:9068941 20200609 RGD PMID:16105758|REF_RGD_ID:1580059 8868064 Alb albumin gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12239465 8868064 Alb albumin gene DOID:0050625 biliary tract benign neoplasm disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:20358256|REF_RGD_ID:2325676 8868064 Alb albumin gene DOID:0050782 Zollinger-Ellison syndrome ISO RGD:735404 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:908508|REF_RGD_ID:2325683 8868064 Alb albumin gene DOID:0080000 muscular disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4126124 8868064 Alb albumin gene DOID:0080600 COVID-19 severity ISO RGD:735404 D RGD:9068941 20200619 RGD PMID:32198776|PMID:32427582|REF_RGD_ID:30296673|REF_RGD_ID:30309200 8868064 Alb albumin gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:735404 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:2404284|PMID:8347685 8868064 Alb albumin gene DOID:10591 pre-eclampsia severity ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:21923989|REF_RGD_ID:11035264 8868064 Alb albumin gene DOID:1063 interstitial nephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10916085|PMID:12217854|PMID:18176075|PMID:23994741 8868064 Alb albumin gene DOID:10763 hypertension ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2526952 8868064 Alb albumin gene DOID:10952 nephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:161594|PMID:16326737|PMID:2945356|PMID:3656695|PMID:4065304|PMID:9380243 8868064 Alb albumin gene DOID:10976 membranous glomerulonephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11938814|PMID:12776520|PMID:1342223|PMID:15385633|PMID:17622271|PMID:9794552 8868064 Alb albumin gene DOID:112 esophageal varix ISO RGD:735404 D RGD:9068941 20200609 RGD associated with ascites PMID:8664482|REF_RGD_ID:1601159 8868064 Alb albumin gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:14555823|REF_RGD_ID:11035280 8868064 Alb albumin gene DOID:11394 adult respiratory distress syndrome ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12394941 8868064 Alb albumin gene DOID:114 heart disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24309158 8868064 Alb albumin gene DOID:114 heart disease disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:15850960|REF_RGD_ID:11036094 8868064 Alb albumin gene DOID:11506 suppurative otitis media IEP D RGD:11556250|PMID:1696441 20161101 RGD 8868064 Alb albumin gene DOID:1168 familial hyperlipidemia ISO RGD:2085 D RGD:9068941 20200609 RGD DNA:mutation PMID:6468510|REF_RGD_ID:1601160 8868064 Alb albumin gene DOID:11713 diabetic angiopathy ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19733855 8868064 Alb albumin gene DOID:11801 protein-energy malnutrition ISO RGD:2085 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:9235366|REF_RGD_ID:11036082 8868064 Alb albumin gene DOID:1184 nephrotic syndrome ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1556257|PMID:17178036 8868064 Alb albumin gene DOID:1184 nephrotic syndrome ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:22203175|REF_RGD_ID:11036090 8868064 Alb albumin gene DOID:1205 allergic disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8431628 8868064 Alb albumin gene DOID:12157 aseptic meningitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:5108595|PMID:5109917|PMID:5536438 8868064 Alb albumin gene DOID:12236 primary biliary cholangitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8868064 Alb albumin gene DOID:12351 alcoholic hepatitis severity ISO RGD:735404 D RGD:9068941 20200609 RGD protein:increased expression, modification:urine PMID:29369844|REF_RGD_ID:14694842 8868064 Alb albumin gene DOID:1240 leukemia disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:24182818|REF_RGD_ID:11035296 8868064 Alb albumin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6734075 8868064 Alb albumin gene DOID:1287 cardiovascular system disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8431628 8868064 Alb albumin gene DOID:13141 uveitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1556257 8868064 Alb albumin gene DOID:13576 twin-to-twin transfusion syndrome ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23208016|REF_RGD_ID:11035270 8868064 Alb albumin gene DOID:13580 cholestasis ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:6431134|REF_RGD_ID:11035297 8868064 Alb albumin gene DOID:13603 obstructive jaundice ISO RGD:2085 D RGD:9068941 20200609 RGD PMID:9161836|REF_RGD_ID:11036102 8868064 Alb albumin gene DOID:13619 extrahepatic cholestasis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8868064 Alb albumin gene DOID:14089 root caries susceptibility ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:17959907|REF_RGD_ID:11035291 8868064 Alb albumin gene DOID:14227 azoospermia ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27289041 8868064 Alb albumin gene DOID:14525 Reye syndrome treatment ISO RGD:2085 D RGD:9068941 20200609 RGD PMID:25162205|REF_RGD_ID:14694843 8868064 Alb albumin gene DOID:1496 echinococcosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24270252 8868064 Alb albumin gene DOID:1555 urticaria ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8458210 8868064 Alb albumin gene DOID:1558 angioedema ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8458210 8868064 Alb albumin gene DOID:1579 respiratory system disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8431628 8868064 Alb albumin gene DOID:1588 thrombocytopenia ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6734075 8868064 Alb albumin gene DOID:1596 depressive disorder ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029664 8868064 Alb albumin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:18154768|PMID:20508721|REF_RGD_ID:2325675|REF_RGD_ID:2325678 8868064 Alb albumin gene DOID:1826 epilepsy ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15356194|PMID:17121744 8868064 Alb albumin gene DOID:2237 hepatitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21851314 8868064 Alb albumin gene DOID:2316 brain ischemia ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16809570 8868064 Alb albumin gene DOID:2527 nephrosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3301049 8868064 Alb albumin gene DOID:26 pancreas disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17169978 8868064 Alb albumin gene DOID:2855 hyperthyroxinemia susceptibility ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:8048949|REF_RGD_ID:1599027 8868064 Alb albumin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1556257 8868064 Alb albumin gene DOID:2921 glomerulonephritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17161813|PMID:17464766|PMID:18462998|PMID:19524415|PMID:3160244|PMID:6343549|PMID:6769622|PMID:8501856 8868064 Alb albumin gene DOID:2983 anuria ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6734075 8868064 Alb albumin gene DOID:3021 acute kidney failure ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2048579|PMID:21259293|PMID:24361871|PMID:28885000 8868064 Alb albumin gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:22227456|REF_RGD_ID:11036100 8868064 Alb albumin gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:19011933|REF_RGD_ID:2325677 8868064 Alb albumin gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23778417|REF_RGD_ID:11036091 8868064 Alb albumin gene DOID:3910 lung adenocarcinoma ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8868064 Alb albumin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:10776430|PMID:17545000|PMID:20431764|REF_RGD_ID:2325679|REF_RGD_ID:2325680|REF_RGD_ID:2325682 8868064 Alb albumin gene DOID:4989 pancreatitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17169977 8868064 Alb albumin gene DOID:5082 liver cirrhosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17977396|PMID:21851314 8868064 Alb albumin gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD associated with Head and Neck Neoplasms; PMID:23285146|REF_RGD_ID:11035282 8868064 Alb albumin gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16903978 8868064 Alb albumin gene DOID:552 pneumonia disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23286966|REF_RGD_ID:11035283 8868064 Alb albumin gene DOID:557 kidney disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316336|PMID:17303580|PMID:20438795|PMID:21338618|PMID:2386429|PMID:24863737|PMID:350256|PMID:7297036 8868064 Alb albumin gene DOID:576 proteinuria ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1011057|PMID:10916085|PMID:12217854|PMID:14514721|PMID:16326737|PMID:18176075|PMID:7288527|PMID:7297036|PMID:839733 8868064 Alb albumin gene DOID:576 proteinuria ISO RGD:735404 D RGD:9068941 20200609 RGD associated with hypertension PMID:8677191|REF_RGD_ID:1601158 8868064 Alb albumin gene DOID:6000 congestive heart failure ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11771600 8868064 Alb albumin gene DOID:6000 congestive heart failure disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:22158777|REF_RGD_ID:11036096 8868064 Alb albumin gene DOID:620 blood protein disease ISO RGD:735404 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D293G,K198I(human) PMID:20603593|REF_RGD_ID:11035265 8868064 Alb albumin gene DOID:6271 gastric cardia adenocarcinoma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:15585392|REF_RGD_ID:11035298 8868064 Alb albumin gene DOID:630 genetic disease ISO RGD:735404 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8868064 Alb albumin gene DOID:684 hepatocellular carcinoma ISO RGD:735404 D RGD:9068941 20231109 RGD PMID:23892757|REF_RGD_ID:11035269 8868064 Alb albumin gene DOID:684 hepatocellular carcinoma ISO RGD:735404 D RGD:9068941 20231109 RGD protein:decreased expression:serum (human) PMID:22392353|REF_RGD_ID:125097525 8868064 Alb albumin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735404 D RGD:9068941 20200609 RGD associated with hepatitis C;protein:decreased expression:serum PMID:29040987|REF_RGD_ID:14694841 8868064 Alb albumin gene DOID:783 end stage renal disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11938814 8868064 Alb albumin gene DOID:783 end stage renal disease disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:11849406|REF_RGD_ID:11036089 8868064 Alb albumin gene DOID:8577 ulcerative colitis ISO RGD:735404 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 8868064 Alb albumin gene DOID:8893 psoriasis ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:22607558|REF_RGD_ID:6483512 8868064 Alb albumin gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:6683982|REF_RGD_ID:11036083 8868064 Alb albumin gene DOID:9000046 Poisoning ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10511253 8868064 Alb albumin gene DOID:9000058 Keloid ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8868064 Alb albumin gene DOID:9000217 Stomach Neoplasms ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 8868064 Alb albumin gene DOID:9000310 Lung Injury ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30953400 8868064 Alb albumin gene DOID:9000568 Analbuminemia ISO RGD:735404 D RGD:7240710 20180130 OMIM 8868064 Alb albumin gene DOID:9000568 Analbuminemia ISO RGD:735404 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Analbuminemia | ClinVar Annotator: match by term: Analbuminemia Baghdad PMID:11781148|PMID:12028999|PMID:15300429|PMID:15996651|PMID:16183048|PMID:17952464|PMID:18459107|PMID:18602380|PMID:18791744|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29981851|PMID:3353369|PMID:7937781|PMID:8134387|PMID:9266687 8868064 Alb albumin gene DOID:9000641 Pain ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4126124 8868064 Alb albumin gene DOID:9000784 Fibrosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24309158 8868064 Alb albumin gene DOID:9000790 Postoperative Complications spontaneous ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23225108|REF_RGD_ID:11035295 8868064 Alb albumin gene DOID:9000998 Brain Injuries ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17188501|PMID:7909931 8868064 Alb albumin gene DOID:9001361 Pancreatic Fistula spontaneous ISO RGD:735404 D RGD:9068941 20200609 RGD associated with Postoperative Complications; PMID:23225108|REF_RGD_ID:11035295 8868064 Alb albumin gene DOID:9001542 Albuminuria ISO RGD:2085 D RGD:9068941 20200609 RGD associated with hypertension PMID:15102963|REF_RGD_ID:1601157 8868064 Alb albumin gene DOID:9001542 Albuminuria ISO RGD:735404 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:19414946|REF_RGD_ID:2306884 8868064 Alb albumin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16642209|PMID:17963606|PMID:21163135 8868064 Alb albumin gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2085 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 8868064 Alb albumin gene DOID:9001686 Acute Coronary Syndrome treatment ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:20716836|REF_RGD_ID:11036086 8868064 Alb albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia ISO RGD:735404 D RGD:7240710 20180130 OMIM 8868064 Alb albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia ISO RGD:735404 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: EUTHYROID HYPERTHYROXINEMIA 1 | ClinVar Annotator: match by term: Hyperthyroxinemia, dysalbuminemic | ClinVar Annotator: match by term: Hyperthyroxinemia, familial dysalbuminemic PMID:12099390|PMID:12743361|PMID:15251607|PMID:18029235|PMID:1859851|PMID:19336879|PMID:1946412|PMID:2104980|PMID:22230555|PMID:2226433|PMID:2247440|PMID:2304452|PMID:2339130|PMID:24494774|PMID:25741868|PMID:26169058|PMID:27834068|PMID:28492532|PMID:2901102|PMID:29133890|PMID:29676214|PMID:3338164|PMID:33728390|PMID:3479777|PMID:3780972|PMID:5926635|PMID:683332|PMID:8022807|PMID:8048949|PMID:8064810|PMID:9329347|PMID:9589637 8868064 Alb albumin gene DOID:9001986 Familial Dysalbuminemic Hyperthyroxinemia severity ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:19844712|REF_RGD_ID:11035292 8868064 Alb albumin gene DOID:9002055 Chronic Allograft Nephropathy disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:24370342|REF_RGD_ID:11035281 8868064 Alb albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:2085 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19397971|REF_RGD_ID:2306885 8868064 Alb albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:2085 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:urine PMID:21441310|REF_RGD_ID:5135032 8868064 Alb albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:2085 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X;protein:increased expression:urine PMID:19424163|REF_RGD_ID:2306882 8868064 Alb albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16380483 8868064 Alb albumin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735404 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine PMID:19246226|REF_RGD_ID:2306886 8868064 Alb albumin gene DOID:9002457 Experimental Arthritis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20472598 8868064 Alb albumin gene DOID:9002513 Hypoproteinemia ISO RGD:2085 D RGD:9068941 20200609 RGD PMID:1690892|REF_RGD_ID:734959 8868064 Alb albumin gene DOID:9002513 Hypoproteinemia susceptibility ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:7937781|REF_RGD_ID:1599028 8868064 Alb albumin gene DOID:9002605 Delayed Hypersensitivity ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19376187 8868064 Alb albumin gene DOID:9003284 HIV Seropositivity ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17209195 8868064 Alb albumin gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19389874 8868064 Alb albumin gene DOID:9004009 Reperfusion Injury ISO RGD:2085 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:20193666|REF_RGD_ID:2325686 8868064 Alb albumin gene DOID:9004250 Hepatic Insufficiency ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8868064 Alb albumin gene DOID:9004484 Sepsis disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:22801198|REF_RGD_ID:11036079 8868064 Alb albumin gene DOID:9004590 Acute Liver Failure ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16750869|PMID:18609519 8868064 Alb albumin gene DOID:9004610 Acute Lung Injury ISO RGD:2085 D RGD:9068941 20200609 RGD PMID:22592748|REF_RGD_ID:6483494 8868064 Alb albumin gene DOID:9005369 Hepatomegaly ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8868064 Alb albumin gene DOID:9005463 Occupational Diseases ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23791970 8868064 Alb albumin gene DOID:9005474 Experimental Sarcoma ISO RGD:10136 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver,serum: PMID:1900492|REF_RGD_ID:11035284 8868064 Alb albumin gene DOID:9005818 Serum Sickness ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:350256|PMID:9380243 8868064 Alb albumin gene DOID:9006024 Hypotension ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11229087|PMID:4463119 8868064 Alb albumin gene DOID:9006205 Animal Disease Models ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16642209|PMID:17963606 8868064 Alb albumin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24361871|PMID:28885000 8868064 Alb albumin gene DOID:9007096 Stroke ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14514741|PMID:16174931|PMID:16809570|PMID:17270091 8868064 Alb albumin gene DOID:9007096 Stroke disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:8291969|REF_RGD_ID:11036080 8868064 Alb albumin gene DOID:9007271 Hypoalbuminemia ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10337936 8868064 Alb albumin gene DOID:9007271 Hypoalbuminemia treatment ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:9034259|REF_RGD_ID:11035279 8868064 Alb albumin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18779383|PMID:22310181 8868064 Alb albumin gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10136 D RGD:9068941 20200609 RGD PMID:27567545|REF_RGD_ID:14694844 8868064 Alb albumin gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:735404 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:16869456|REF_RGD_ID:11036095 8868064 Alb albumin gene DOID:9007730 Burns disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:23917657|REF_RGD_ID:11036092 8868064 Alb albumin gene DOID:9007787 Carcinoid Tumor ISO RGD:735404 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:975003|REF_RGD_ID:11036087 8868064 Alb albumin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9572063 8868064 Alb albumin gene DOID:9008261 Chemically-Induced Disorders ISO RGD:735404 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 8868064 Alb albumin gene DOID:9008386 Hydrops Fetalis disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:17195148|REF_RGD_ID:11036098 8868064 Alb albumin gene DOID:9008443 Colorectal Neoplasms disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:16965244|REF_RGD_ID:11035272 8868064 Alb albumin gene DOID:936 brain disease ISO RGD:735404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15923801 8868064 Alb albumin gene DOID:9538 multiple myeloma disease_progression ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:17096887|REF_RGD_ID:11035276 8868064 Alb albumin gene DOID:9675 pulmonary emphysema ISO RGD:735404 D RGD:9068941 20200609 RGD PMID:24365562|REF_RGD_ID:11035274 8868070 Bcas2 BCAS2 pre-mRNA processing factor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1315129 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 8868070 Bcas2 BCAS2 pre-mRNA processing factor gene DOID:0080690 RASopathy ISO RGD:1315129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8868070 Bcas2 BCAS2 pre-mRNA processing factor gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1315129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8868070 Bcas2 BCAS2 pre-mRNA processing factor gene DOID:1612 breast cancer ISO RGD:1315129 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:12169396|REF_RGD_ID:9850147 8868070 Bcas2 BCAS2 pre-mRNA processing factor gene DOID:630 genetic disease ISO RGD:1315129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868081 Tpmt thiopurine S-methyltransferase gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:1350168 D RGD:9068941 20200609 RGD PMID:17026564|REF_RGD_ID:11038726 8868081 Tpmt thiopurine S-methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1350168 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8868081 Tpmt thiopurine S-methyltransferase gene DOID:0080172 thiopurine S-methyltransferase deficiency ISO RGD:1350168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thiopurine methyltransferase deficiency PMID:10208641|PMID:10751626|PMID:15819814|PMID:16476125|PMID:17885628|PMID:1960624|PMID:7862671|PMID:8561894|PMID:8644731|PMID:9177237|PMID:9246020|PMID:9931345|PMID:9931346 8868081 Tpmt thiopurine S-methyltransferase gene DOID:1227 neutropenia ISO RGD:1350168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18662289 8868081 Tpmt thiopurine S-methyltransferase gene DOID:3534 Lafora disease ISO RGD:1350168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:15781812|PMID:17389303|PMID:23317923|PMID:28492532 8868081 Tpmt thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18662289|PMID:22535280|PMID:25108385 8868081 Tpmt thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:9068941 20200609 RGD PMID:16044099|PMID:24322830|REF_RGD_ID:11038721|REF_RGD_ID:11038725 8868081 Tpmt thiopurine S-methyltransferase gene DOID:615 leukopenia ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNP:exon:719A>G (human) PMID:20308917|REF_RGD_ID:11038727 8868081 Tpmt thiopurine S-methyltransferase gene DOID:615 leukopenia no_association ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:20308917|REF_RGD_ID:11038727 8868081 Tpmt thiopurine S-methyltransferase gene DOID:630 genetic disease ISO RGD:1350168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868081 Tpmt thiopurine S-methyltransferase gene DOID:9004283 Transplant Rejection ISO RGD:1350168 D RGD:9068941 20200609 RGD PMID:24121523|REF_RGD_ID:11038722 8868081 Tpmt thiopurine S-methyltransferase gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:1350168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19898482 8868081 Tpmt thiopurine S-methyltransferase gene DOID:9006969 Poor Metabolism of Thiopurines, 1 ISO RGD:1350168 D RGD:7240710 20190327 OMIM 8868081 Tpmt thiopurine S-methyltransferase gene DOID:987 alopecia ISO RGD:1350168 D RGD:9068941 20200609 RGD PMID:24322830|REF_RGD_ID:11038725 8868081 Tpmt thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:24499706|REF_RGD_ID:11038723 8868081 Tpmt thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human) PMID:22009189|REF_RGD_ID:10766474 8868081 Tpmt thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) PMID:22009189|REF_RGD_ID:10766474 8868081 Tpmt thiopurine S-methyltransferase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1350168 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:17164697|REF_RGD_ID:11038720 8868094 Sf3a1 splicing factor 3a subunit 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1322957 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:22037554|PMID:26498691|PMID:33563892 8868094 Sf3a1 splicing factor 3a subunit 1 gene DOID:630 genetic disease ISO RGD:1322957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868138 Rad9a RAD9 checkpoint clamp component A gene DOID:1059 intellectual disability ISO RGD:1321649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8868138 Rad9a RAD9 checkpoint clamp component A gene DOID:630 genetic disease ISO RGD:1321649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868138 Rad9a RAD9 checkpoint clamp component A gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321649 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8868138 Rad9a RAD9 checkpoint clamp component A gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1321649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21991345 8868138 Rad9a RAD9 checkpoint clamp component A gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8868170 Hebp1 heme binding protein 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1312101 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8868170 Hebp1 heme binding protein 1 gene DOID:0080600 COVID-19 ISO RGD:1312101 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8868170 Hebp1 heme binding protein 1 gene DOID:630 genetic disease ISO RGD:1312101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:0001816 angiosarcoma ISO RGD:732698 D RGD:9068941 20230720 RGD protein:increased expression:vasculature (human) PMID:27531900|REF_RGD_ID:329955561 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:0001816 angiosarcoma ameliorates ISO RGD:732698 D RGD:9068941 20230720 RGD human cells in mouse model PMID:27531900|REF_RGD_ID:329955561 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:732698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111575 dehydrated hereditary stomatocytosis ISO RGD:732698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111576 dehydrated hereditary stomatocytosis 1 ISO RGD:732698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema PMID:25741868 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111577 dehydrated hereditary stomatocytosis 2 ISO RGD:732698 D RGD:7240710 20180130 OMIM 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:0111577 dehydrated hereditary stomatocytosis 2 ISO RGD:732698 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 2 PMID:25741868|PMID:26148990|PMID:26178367|PMID:26198474|PMID:28492532|PMID:28496185|PMID:4851153|PMID:6473461|PMID:652816|PMID:687829 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:10591 pre-eclampsia ISO RGD:732698 D RGD:9068941 20230824 RGD protein:decreased expression:umbilical artery,umbilical vein (human) PMID:23261940|REF_RGD_ID:329955574 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:10763 hypertension ISO RGD:732698 D RGD:9068941 20230720 RGD mRNA, protein:increased expression:CD4-positive, alpha-beta T cell (human) PMID:26502942|REF_RGD_ID:329955577 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:10763 hypertension ISO RGD:732698 D RGD:9068941 20230831 RGD protein:increased activity:T cell (human) PMID:24524604|REF_RGD_ID:401794566 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:10763 hypertension ameliorates ISO RGD:621476 D RGD:9068941 20230831 RGD associated with Cardiac Fibrosis PMID:25715999|REF_RGD_ID:401794570 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:1936 atherosclerosis ameliorates ISO RGD:732699 D RGD:9068941 20230831 RGD ApoE knockout mouse PMID:18688283|REF_RGD_ID:329955454 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:621476 D RGD:9068941 20230803 RGD PMID:25016931|REF_RGD_ID:329969891 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:621476 D RGD:9068941 20230803 RGD PMID:21750563|PMID:25477223|REF_RGD_ID:329955444|REF_RGD_ID:401700383 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:732699 D RGD:9068941 20230720 RGD PMID:26661208|REF_RGD_ID:329955572 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:3526 cerebral infarction ameliorates ISO RGD:732698 D RGD:9068941 20230727 RGD PMID:29037241|REF_RGD_ID:329969881 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:4724 brain edema ISO RGD:732698 D RGD:9068941 20230727 RGD mRNA:increased expression:neocortex,Pyramidal cells (human) PMID:27487831|REF_RGD_ID:329969876 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:5419 schizophrenia ISO RGD:732698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:5844 myocardial infarction susceptibility ISO RGD:732698 D RGD:9068941 20230727 RGD DNA:SNPs,haplotypes:introns:multiple PMID:19644414|REF_RGD_ID:329969896 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:630 genetic disease ISO RGD:732698 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:732699 D RGD:9068941 20230803 RGD PMID:24606313|REF_RGD_ID:329955563 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732699 D RGD:9068941 20230720 RGD associated with myocardial infarction:mRNA,protein:increased expression:Peripheral blood mononuclear cells, macrophage (mouse) PMID:31588225|REF_RGD_ID:329955461 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:732699 D RGD:9068941 20230810 RGD associated with Experimental Diabetes Mellitus PMID:35149165|REF_RGD_ID:401784497 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:732699 D RGD:9068941 20230831 RGD ApoE knockout mouse PMID:28062499|REF_RGD_ID:329955458 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621476 D RGD:9068941 20230831 RGD mRNA:increased expression:liver (rat) PMID:27354175|REF_RGD_ID:329955558 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9001573 Experimental Liver Cirrhosis exacerbates ISO RGD:732699 D RGD:9068941 20230831 RGD PMID:27354175|REF_RGD_ID:329955558 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9001820 Pulmonary Arterial Hypertension ameliorates ISO RGD:621476 D RGD:9068941 20230720 RGD PMID:28679649|REF_RGD_ID:329955564 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9002153 Chronic Allograft Dysfunction ameliorates ISO RGD:621476 D RGD:9068941 20230831 RGD PMID:24312257|REF_RGD_ID:401700379 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9002165 Diabetic Nephropathies ameliorates ISO RGD:732699 D RGD:9068941 20230824 RGD PMID:24733189|PMID:29425253|REF_RGD_ID:329955448|REF_RGD_ID:329969879 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:732699 D RGD:9068941 20211112 RGD PMID:25131209|REF_RGD_ID:150521609 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO RGD:621476 D RGD:9068941 20230810 RGD PMID:30563389|REF_RGD_ID:401700380 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO RGD:732699 D RGD:9068941 20230831 RGD PMID:28455747|REF_RGD_ID:401700389 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9004927 Stomatocytosis II ISO RGD:732698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stomatocytosis II PMID:25741868 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621476 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta, smooth muscle PMID:24589593|REF_RGD_ID:10412030 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9005643 Experimental Diabetes Mellitus ameliorates ISO RGD:621476 D RGD:9068941 20230810 RGD PMID:29167619|REF_RGD_ID:401784495 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:621476 D RGD:9068941 20230803 RGD associated with Pulmonary Arterial Hypertension PMID:26959484|REF_RGD_ID:329969898 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:732699 D RGD:9068941 20230727 RGD associated with myocardial infarction PMID:26160442|REF_RGD_ID:329969895 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9007402 Gliosis ameliorates ISO RGD:621476 D RGD:9068941 20230831 RGD associated with diabetic ketoacidosis PMID:27174668|REF_RGD_ID:401784498 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9007622 Acute Subdural Hematoma treatment ISO RGD:621476 D RGD:9068941 20230803 RGD PMID:15379997|REF_RGD_ID:329969897 8868178 Kcnn4 potassium calcium-activated channel subfamily N member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621476 D RGD:9068941 20230831 RGD protein:increased expression:aorta (rat) PMID:21463632|REF_RGD_ID:401794561 8868197 Tyms thymidylate synthetase gene DOID:0050861 colorectal adenocarcinoma ISO RGD:3921 D RGD:9068941 20200609 RGD protein:increased activity:colon (rat) PMID:10226549|REF_RGD_ID:2317418 8868197 Tyms thymidylate synthetase gene DOID:0050873 follicular lymphoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 8868197 Tyms thymidylate synthetase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365025 8868197 Tyms thymidylate synthetase gene DOID:0080600 COVID-19 ISO RGD:732334 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8868197 Tyms thymidylate synthetase gene DOID:11054 urinary bladder cancer ISO RGD:3921 D RGD:9068941 20200609 RGD PMID:18463958|REF_RGD_ID:2317413 8868197 Tyms thymidylate synthetase gene DOID:12849 autistic disorder ISO RGD:732334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8868197 Tyms thymidylate synthetase gene DOID:1520 colon carcinoma ISO RGD:732334 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:17848948|REF_RGD_ID:5133430 8868197 Tyms thymidylate synthetase gene DOID:169 neuroendocrine tumor ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18281538 8868197 Tyms thymidylate synthetase gene DOID:1749 squamous cell carcinoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280240 8868197 Tyms thymidylate synthetase gene DOID:1793 pancreatic cancer ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 8868197 Tyms thymidylate synthetase gene DOID:1984 rectal benign neoplasm ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16931962 8868197 Tyms thymidylate synthetase gene DOID:2355 anemia ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163 8868197 Tyms thymidylate synthetase gene DOID:2729 dyskeratosis congenita ISO RGD:732334 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25741868|PMID:35931051 8868197 Tyms thymidylate synthetase gene DOID:3526 cerebral infarction susceptibility ISO RGD:732334 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes: (rs502396,rs16430,rs8423) PMID:20458436|REF_RGD_ID:401794454 8868197 Tyms thymidylate synthetase gene DOID:3910 lung adenocarcinoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8868197 Tyms thymidylate synthetase gene DOID:630 genetic disease ISO RGD:732334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868197 Tyms thymidylate synthetase gene DOID:674 cleft palate ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 8868197 Tyms thymidylate synthetase gene DOID:684 hepatocellular carcinoma ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18019677|PMID:18230555 8868197 Tyms thymidylate synthetase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:deletion:3'UTR:1494del6(human) PMID:17659576|REF_RGD_ID:14696708 8868197 Tyms thymidylate synthetase gene DOID:7148 rheumatoid arthritis treatment ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:22763757|REF_RGD_ID:11075093 8868197 Tyms thymidylate synthetase gene DOID:7693 abdominal aortic aneurysm susceptibility ISO RGD:732334 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes:intron, 3'utr: (rs502396,rs16430,rs8423) (human) PMID:18635682|REF_RGD_ID:329853746 8868197 Tyms thymidylate synthetase gene DOID:863 nervous system disease ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 8868197 Tyms thymidylate synthetase gene DOID:9000217 Stomach Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15837757|PMID:18505590|PMID:18652704|PMID:19020767 8868197 Tyms thymidylate synthetase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732334 D RGD:9068941 20200609 RGD associated with Gastrointestinal Neoplasms;DNA:SNPs: : PMID:25677447|REF_RGD_ID:11081002 8868197 Tyms thymidylate synthetase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15999119 8868197 Tyms thymidylate synthetase gene DOID:9002720 Splenomegaly ISO RGD:3921 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:spleen (rat) PMID:11554613|REF_RGD_ID:5133431 8868197 Tyms thymidylate synthetase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21795601 8868197 Tyms thymidylate synthetase gene DOID:9002928 Colonic Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15355913|PMID:16284371|PMID:16609021|PMID:18192902|PMID:18652704|PMID:19105824 8868197 Tyms thymidylate synthetase gene DOID:9004351 Digestive System Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18281538 8868197 Tyms thymidylate synthetase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8868197 Tyms thymidylate synthetase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18192902 8868197 Tyms thymidylate synthetase gene DOID:9005172 Lung Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18281538|PMID:19020767 8868197 Tyms thymidylate synthetase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3921 D RGD:9068941 20200609 RGD PMID:9635926|REF_RGD_ID:2315839 8868197 Tyms thymidylate synthetase gene DOID:9005873 Tongue Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280240 8868197 Tyms thymidylate synthetase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19020767 8868197 Tyms thymidylate synthetase gene DOID:9006205 Animal Disease Models ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8868197 Tyms thymidylate synthetase gene DOID:9006803 DYSKERATOSIS CONGENITA, DIGENIC ISO RGD:732334 D RGD:7240710 20221207 OMIM 8868197 Tyms thymidylate synthetase gene DOID:9006803 DYSKERATOSIS CONGENITA, DIGENIC ISO RGD:732334 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, digenic PMID:25741868|PMID:35931051 8868197 Tyms thymidylate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19648163|PMID:21064136|PMID:25007187|PMID:26077125 8868197 Tyms thymidylate synthetase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732334 D RGD:9068941 20220616 RGD DNA:SNP:cds:rs2853741 (human) PMID:28347776|REF_RGD_ID:152995291 8868197 Tyms thymidylate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:3921 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:adenocarcinoma (rat) PMID:10523711|REF_RGD_ID:5133433 8868197 Tyms thymidylate synthetase gene DOID:9008443 Colorectal Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15222106|PMID:15386371|PMID:15500737|PMID:16141798|PMID:16943523|PMID:17047489|PMID:17943475|PMID:18607850|PMID:18676755|PMID:19020767|PMID:25944804 8868197 Tyms thymidylate synthetase gene DOID:9008939 Breast Neoplasms ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16723031|PMID:19020767|PMID:21501481 8868197 Tyms thymidylate synthetase gene DOID:9008972 Hyperammonemia ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714149 8868197 Tyms thymidylate synthetase gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:repeats,insertion/deletion:5'UTR, 3'UTR: PMID:18774170|REF_RGD_ID:11075096 8868197 Tyms thymidylate synthetase gene DOID:9296 cleft lip ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 8868197 Tyms thymidylate synthetase gene DOID:936 brain disease ISO RGD:732334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20714149 8868197 Tyms thymidylate synthetase gene DOID:9538 multiple myeloma no_association ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:repeats:5'UTR: PMID:17655928|REF_RGD_ID:11075095 8868197 Tyms thymidylate synthetase gene DOID:9538 multiple myeloma treatment ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17512053|REF_RGD_ID:11075094 8868197 Tyms thymidylate synthetase gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:732334 D RGD:9068941 20200609 RGD DNA:repeats: : rs347430033(human) PMID:25007187|REF_RGD_ID:11080979 8868211 LOC102023047 chromosome unknown open reading frame, human C11orf68 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1602858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8868211 LOC102023047 chromosome unknown open reading frame, human C11orf68 gene DOID:1059 intellectual disability ISO RGD:1602858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8868211 LOC102023047 chromosome unknown open reading frame, human C11orf68 gene DOID:1909 melanoma ISO RGD:1602858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8868211 LOC102023047 chromosome unknown open reading frame, human C11orf68 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8868211 LOC102023047 chromosome unknown open reading frame, human C11orf68 gene DOID:2746 glycogen storage disease V ISO RGD:1602858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8868211 LOC102023047 chromosome unknown open reading frame, human C11orf68 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602858 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8868211 LOC102023047 chromosome unknown open reading frame, human C11orf68 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8868229 Abhd14b abhydrolase domain containing 14B gene DOID:630 genetic disease ISO RGD:1603002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868237 Cntfr ciliary neurotrophic factor receptor gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1344115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8868237 Cntfr ciliary neurotrophic factor receptor gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1344115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8868237 Cntfr ciliary neurotrophic factor receptor gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1344115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8868237 Cntfr ciliary neurotrophic factor receptor gene DOID:0080942 anauxetic dysplasia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8868237 Cntfr ciliary neurotrophic factor receptor gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1344115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8868237 Cntfr ciliary neurotrophic factor receptor gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8868237 Cntfr ciliary neurotrophic factor receptor gene DOID:10283 prostate cancer ISO RGD:1344115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8868237 Cntfr ciliary neurotrophic factor receptor gene DOID:630 genetic disease ISO RGD:1344115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868237 Cntfr ciliary neurotrophic factor receptor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344115 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8868237 Cntfr ciliary neurotrophic factor receptor gene DOID:9870 galactosemia ISO RGD:1344115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8868274 Pcnx2 pecanex 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8868274 Pcnx2 pecanex 2 gene DOID:630 genetic disease ISO RGD:1605048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868274 Pcnx2 pecanex 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8868311 Senp1 SUMO specific peptidase 1 gene DOID:2349 arteriosclerosis ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8868311 Senp1 SUMO specific peptidase 1 gene DOID:865 vasculitis ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8868311 Senp1 SUMO specific peptidase 1 gene DOID:9002514 Neointima ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8868311 Senp1 SUMO specific peptidase 1 gene DOID:9004771 Vascular Remodeling ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8868311 Senp1 SUMO specific peptidase 1 gene DOID:9006709 Primary Graft Dysfunction ISO RGD:1321080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8868311 Senp1 SUMO specific peptidase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1321081 D RGD:9068941 20220825 MouseDO OMIM:222100 8868342 Nek6 NIMA related kinase 6 gene DOID:630 genetic disease ISO RGD:1347059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868342 Nek6 NIMA related kinase 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8868369 Duox1 dual oxidase 1 gene DOID:0050712 AGAT deficiency ISO RGD:1345114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8868369 Duox1 dual oxidase 1 gene DOID:2717 Bloom syndrome ISO RGD:1345114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8868369 Duox1 dual oxidase 1 gene DOID:630 genetic disease ISO RGD:1345114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868369 Duox1 dual oxidase 1 gene DOID:9000371 influenza A ISO RGD:1345114 D RGD:9068941 20210122 RGD protein:decreased expression:blood plasma (human) PMID:24888898|REF_RGD_ID:40903071 8868369 Duox1 dual oxidase 1 gene DOID:9256 colorectal cancer ISO RGD:1345114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8868405 Tbca tubulin folding cofactor A gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1323048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 8868405 Tbca tubulin folding cofactor A gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1323048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 8868405 Tbca tubulin folding cofactor A gene DOID:630 genetic disease ISO RGD:1323048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868405 Tbca tubulin folding cofactor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8868414 Tle2 TLE family member 2, transcriptional corepressor gene DOID:1227 neutropenia ISO RGD:1315408 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 8868414 Tle2 TLE family member 2, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:1315408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868414 Tle2 TLE family member 2, transcriptional corepressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8868452 Cenpn centromere protein N gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1603636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 8868452 Cenpn centromere protein N gene DOID:630 genetic disease ISO RGD:1603636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868490 Gpr150 G protein-coupled receptor 150 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343055 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8868490 Gpr150 G protein-coupled receptor 150 gene DOID:630 genetic disease ISO RGD:1343055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868490 Gpr150 G protein-coupled receptor 150 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1343055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 8868490 Gpr150 G protein-coupled receptor 150 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8868490 Gpr150 G protein-coupled receptor 150 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8868490 Gpr150 G protein-coupled receptor 150 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343055 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8868496 Arsj arylsulfatase family member J gene DOID:12271 aniridia ISO RGD:1606235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 8868496 Arsj arylsulfatase family member J gene DOID:630 genetic disease ISO RGD:1606235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868502 Ostf1 osteoclast stimulating factor 1 gene DOID:630 genetic disease ISO RGD:733236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868529 Gmppa GDP-mannose pyrophosphorylase A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8868529 Gmppa GDP-mannose pyrophosphorylase A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1607034 D RGD:7240710 20180130 OMIM 8868529 Gmppa GDP-mannose pyrophosphorylase A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:24035193|PMID:25741868|PMID:28492532|PMID:28574218|PMID:29593478 8868529 Gmppa GDP-mannose pyrophosphorylase A gene DOID:1148 polydactyly ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8868529 Gmppa GDP-mannose pyrophosphorylase A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8868529 Gmppa GDP-mannose pyrophosphorylase A gene DOID:630 genetic disease ISO RGD:1607034 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8868529 Gmppa GDP-mannose pyrophosphorylase A gene DOID:8534 gastroesophageal reflux disease ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:24035193 8868529 Gmppa GDP-mannose pyrophosphorylase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8868529 Gmppa GDP-mannose pyrophosphorylase A gene DOID:9008086 Developmental Disabilities ISO RGD:1607034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24035193 8868575 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:0060041 autism spectrum disorder ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 8868575 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:733632 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 8868575 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:11983 Prader-Willi syndrome ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 8868575 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:12849 autistic disorder ISO RGD:733632 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 8868575 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:1932 Angelman syndrome ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:25741868|PMID:26633545 8868575 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:5419 schizophrenia ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8868575 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:630 genetic disease ISO RGD:733632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868575 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:9000998 Brain Injuries ISO RGD:733632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8868575 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8868575 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:9004864 Isodicentric Chromosome 15 Syndrome ISO RGD:733632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23663378 8868575 Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma3 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:733632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:11198279|PMID:26068938|PMID:26950270|PMID:28053010|PMID:28492532 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:68607 D RGD:7240710 20180130 OMIM 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15705783|PMID:20843259|PMID:25741868|PMID:27651169|PMID:28484264|PMID:29590070 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:68607 D RGD:9068941 20220728 RGD protein:decreased expression:colorectum (human) PMID:31706103|REF_RGD_ID:153297781 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 PMID:20404132|PMID:25741868 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:10763 hypertension ISO RGD:68411 D RGD:9068941 20200609 RGD PMID:25776069|REF_RGD_ID:13442483 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:12306 vitiligo ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:2224 essential thrombocythemia ISO RGD:68607 D RGD:7240710 20180130 OMIM 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:2224 essential thrombocythemia ISO RGD:68607 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 PMID:15705783|PMID:20404132|PMID:23812944|PMID:25741868|PMID:27651169|PMID:28484264|PMID:29590070|PMID:31298594 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:2228 thrombocytosis ISO RGD:68607 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:3393 coronary artery disease ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:4971 myelofibrosis ISO RGD:68607 D RGD:7240710 20180130 OMIM 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:4971 myelofibrosis ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis PMID:20404132|PMID:25741868 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:5844 myocardial infarction ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:630 genetic disease ISO RGD:68607 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:687 hepatoblastoma ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:20404132|PMID:25741868 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:8432 polycythemia ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15705783|PMID:20843259|PMID:25741868|PMID:27651169|PMID:28484264|PMID:29590070 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:68608 D RGD:9068941 20220825 MouseDO OMIM:608232 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:9001542 Albuminuria ISO RGD:68411 D RGD:9068941 20200609 RGD PMID:25776069|REF_RGD_ID:13442483 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:9005372 Inflammation ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21496118 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:9006561 Familial Myelofibrosis ISO RGD:68607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial myelofibrosis PMID:25741868 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:68607 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23908464|PMID:25741868|PMID:26457647|PMID:31102422|PMID:31173385 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:9007096 Stroke ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:68411 D RGD:9068941 20200609 RGD PMID:25628389|REF_RGD_ID:12904914 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:9256 colorectal cancer susceptibility ISO RGD:68607 D RGD:9068941 20220728 RGD DNA:missense mutation:CDS:p.W263R (rs3184504) (human) PMID:26553438|REF_RGD_ID:11041896 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:9538 multiple myeloma ISO RGD:68607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:68607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224649 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68607 D RGD:9068941 20220728 RGD DNA:SNP: : (rs3184504) (human) PMID:21873553|REF_RGD_ID:6484692 8868589 Sh2b3 SH2B adaptor protein 3 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:68607 D RGD:9068941 20220728 RGD DNA:missense mutation:exon: (rs3184504) (human) PMID:21829393|REF_RGD_ID:153297780 8868627 Kcmf1 potassium channel modulatory factor 1 gene DOID:630 genetic disease ISO RGD:1315004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868640 Acp3 acid phosphatase 3 gene DOID:10283 prostate cancer ISO RGD:736505 D RGD:9068941 20200609 RGD PMID:16024648|REF_RGD_ID:2301055 8868640 Acp3 acid phosphatase 3 gene DOID:10283 prostate cancer ISO RGD:736506 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 8868640 Acp3 acid phosphatase 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:736505 D RGD:9068941 20200609 RGD PSA/PAP (prostatic acid phosphatase) ratio - a valuable prognostic indicator in men with Stage IV prostate cancer PMID:17991541|REF_RGD_ID:2301054 8868640 Acp3 acid phosphatase 3 gene DOID:630 genetic disease ISO RGD:736505 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868640 Acp3 acid phosphatase 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8868640 Acp3 acid phosphatase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736505 D RGD:9068941 20200609 RGD a positive cis-element in the promoter involved in regulating prostate cell-specific expression of the gene PMID:15240830|REF_RGD_ID:2301052 8868640 Acp3 acid phosphatase 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8868640 Acp3 acid phosphatase 3 gene DOID:9270 alkaptonuria ISO RGD:736505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8868661 Btbd19 BTB domain containing 19 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:3031244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8868661 Btbd19 BTB domain containing 19 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:3031244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8868661 Btbd19 BTB domain containing 19 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:3031244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8868661 Btbd19 BTB domain containing 19 gene DOID:630 genetic disease ISO RGD:3031244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:0050753 cerebellar ataxia ISO RGD:1605663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dysmetria PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33977142|PMID:34426522|PMID:35379322 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:0050952 spastic ataxia ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:10763 hypertension ISO RGD:1605663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypertension PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33977142|PMID:34426522|PMID:35379322 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:11836 clubfoot ISO RGD:1605663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33977142|PMID:34426522|PMID:35379322 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:13189 gout ISO RGD:1605663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gout PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33977142|PMID:34426522|PMID:35379322 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:3755 antithrombin III deficiency ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1605663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25525159|PMID:25741868|PMID:26327357|PMID:28492532|PMID:31589614|PMID:33977142|PMID:34426522|PMID:35379322 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9002563 Gait Ataxia ISO RGD:1605663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gait ataxia PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33977142|PMID:34426522|PMID:35379322 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9007114 Mobility Limitation ISO RGD:1605663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Difficulty walking PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33977142|PMID:34426522|PMID:35379322 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605663 D RGD:7240710 20180130 OMIM 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9007747 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation ISO RGD:1605663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation PMID:16199547|PMID:17384640|PMID:17576681|PMID:19592391|PMID:21493805|PMID:21749991|PMID:21815884|PMID:22843165|PMID:23065766|PMID:23216004|PMID:23652419|PMID:24005482|PMID:24030952|PMID:24407472|PMID:24566671|PMID:25525159|PMID:25741868|PMID:26327357|PMID:26620921|PMID:28017220|PMID:28492532|PMID:30006346|PMID:30352563|PMID:31589614|PMID:32571458|PMID:33977142|PMID:34426522|PMID:35379322|PMID:9536098 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8868683 Dars2 aspartyl-tRNA synthetase 2, mitochondrial gene DOID:9277 primary cerebellar degeneration ISO RGD:1605663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:16199547|PMID:17384640|PMID:19592391|PMID:22843165|PMID:23065766|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33977142|PMID:34426522|PMID:35379322 8868713 Pfdn1 prefoldin subunit 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1313729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8868713 Pfdn1 prefoldin subunit 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8868713 Pfdn1 prefoldin subunit 1 gene DOID:630 genetic disease ISO RGD:1313729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868713 Pfdn1 prefoldin subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8868713 Pfdn1 prefoldin subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8868724 Kif26b kinesin family member 26B gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1605983 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8868724 Kif26b kinesin family member 26B gene DOID:10907 microcephaly ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 8868724 Kif26b kinesin family member 26B gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:29053796 8868724 Kif26b kinesin family member 26B gene DOID:1540 parathyroid carcinoma ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8868724 Kif26b kinesin family member 26B gene DOID:630 genetic disease ISO RGD:1605983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868724 Kif26b kinesin family member 26B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8868724 Kif26b kinesin family member 26B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8868743 Lrrk1 leucine rich repeat kinase 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1317516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8868743 Lrrk1 leucine rich repeat kinase 1 gene DOID:0081111 osteosclerotic metaphyseal dysplasia ISO RGD:1317516 D RGD:7240710 20211222 OMIM 8868743 Lrrk1 leucine rich repeat kinase 1 gene DOID:0081111 osteosclerotic metaphyseal dysplasia ISO RGD:1317516 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LRRK1-related condition | ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia PMID:25741868|PMID:27055475|PMID:27829680|PMID:28492532|PMID:31571209|PMID:32119750|PMID:8255649 8868743 Lrrk1 leucine rich repeat kinase 1 gene DOID:13533 osteopetrosis ISO RGD:1317517 D RGD:9068941 20220825 MouseDO 8868743 Lrrk1 leucine rich repeat kinase 1 gene DOID:630 genetic disease ISO RGD:1317516 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8868743 Lrrk1 leucine rich repeat kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8868781 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:0060857 septooptic dysplasia ISO RGD:1603624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:25741868 8868781 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:1059 intellectual disability ISO RGD:1603624 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 8868781 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:2234 focal epilepsy ISO RGD:1603624 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8868781 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:630 genetic disease ISO RGD:1603624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868781 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:9002189 High Myopia ISO RGD:1603624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8868781 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1603624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8868781 Ralgapb Ral GTPase activating protein non-catalytic subunit beta gene DOID:9008582 Developmental Disease ISO RGD:1603624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8868824 Uts2r urotensin 2 receptor gene DOID:0050700 cardiomyopathy ISO RGD:621884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium PMID:18280445|REF_RGD_ID:2306796 8868824 Uts2r urotensin 2 receptor gene DOID:10763 hypertension ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:14621188|REF_RGD_ID:1580812 8868824 Uts2r urotensin 2 receptor gene DOID:12932 endomyocardial fibrosis ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:16919371|REF_RGD_ID:2306833 8868824 Uts2r urotensin 2 receptor gene DOID:3021 acute kidney failure ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:15146030|REF_RGD_ID:2306847 8868824 Uts2r urotensin 2 receptor gene DOID:5844 myocardial infarction ISO RGD:621884 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive;mRNA:increased expression:heart ventricle PMID:15549273|REF_RGD_ID:2306846 8868824 Uts2r urotensin 2 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342744 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:15492948|REF_RGD_ID:2306805 8868824 Uts2r urotensin 2 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:621884 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney PMID:18796544|REF_RGD_ID:2306786 8868824 Uts2r urotensin 2 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:16267137|REF_RGD_ID:2306839 8868824 Uts2r urotensin 2 receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621884 D RGD:9068941 20200609 RGD PMID:17900760|REF_RGD_ID:2306836 8868824 Uts2r urotensin 2 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1332177 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:19323985|REF_RGD_ID:2306785 8868835 She Src homology 2 domain containing E gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8868835 She Src homology 2 domain containing E gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 8868835 She Src homology 2 domain containing E gene DOID:0111940 immunodeficiency 42 ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8868835 She Src homology 2 domain containing E gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8868835 She Src homology 2 domain containing E gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8868835 She Src homology 2 domain containing E gene DOID:1540 parathyroid carcinoma ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8868835 She Src homology 2 domain containing E gene DOID:5812 MHC class II deficiency ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8868835 She Src homology 2 domain containing E gene DOID:630 genetic disease ISO RGD:1605584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868835 She Src homology 2 domain containing E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8868845 Oas2 2'-5'-oligoadenylate synthetase 2 gene DOID:630 genetic disease ISO RGD:1348906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868845 Oas2 2'-5'-oligoadenylate synthetase 2 gene DOID:9001488 Human Influenza ISO RGD:1348906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8868865 Il7 interleukin 7 gene DOID:0080600 COVID-19 ISO RGD:737457 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 8868865 Il7 interleukin 7 gene DOID:0080600 COVID-19 severity ISO RGD:737457 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8868865 Il7 interleukin 7 gene DOID:0080642 Middle East respiratory syndrome onset ISO RGD:737458 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8868865 Il7 interleukin 7 gene DOID:10603 glucose intolerance ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 8868865 Il7 interleukin 7 gene DOID:10652 Alzheimer's disease ISO RGD:737457 D RGD:9068941 20200609 RGD PMID:22571981|REF_RGD_ID:10402933 8868865 Il7 interleukin 7 gene DOID:2377 multiple sclerosis ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17660816 8868865 Il7 interleukin 7 gene DOID:2945 severe acute respiratory syndrome ISO RGD:737458 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8868865 Il7 interleukin 7 gene DOID:3070 high grade glioma ISO RGD:2904 D RGD:9068941 20200609 RGD PMID:10078962|REF_RGD_ID:727266 8868865 Il7 interleukin 7 gene DOID:3388 periodontal disease ISO RGD:2904 D RGD:9068941 20200609 RGD PMID:20618701|REF_RGD_ID:5024938 8868865 Il7 interleukin 7 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737457 D RGD:9068941 20220204 RGD PMID:21159243|REF_RGD_ID:151347686 8868865 Il7 interleukin 7 gene DOID:4195 hyperglycemia ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 8868865 Il7 interleukin 7 gene DOID:614 lymphopenia ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17151827 8868865 Il7 interleukin 7 gene DOID:630 genetic disease ISO RGD:737457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868865 Il7 interleukin 7 gene DOID:9000998 Brain Injuries ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8868865 Il7 interleukin 7 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:737458 D RGD:9068941 20200609 RGD PMID:18992278|REF_RGD_ID:10402929 8868865 Il7 interleukin 7 gene DOID:9004283 Transplant Rejection ISO RGD:2904 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17532783|REF_RGD_ID:10402939 8868865 Il7 interleukin 7 gene DOID:9004313 Epidermodysplasia Verruciformis 5 ISO RGD:737457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 PMID:25981006 8868865 Il7 interleukin 7 gene DOID:9004313 Epidermodysplasia Verruciformis 5 susceptibility ISO RGD:737457 D RGD:7240710 20190502 OMIM 8868865 Il7 interleukin 7 gene DOID:9004657 Weight Gain ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 8868865 Il7 interleukin 7 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:737458 D RGD:9068941 20200609 RGD PMID:23662133|REF_RGD_ID:10402930 8868865 Il7 interleukin 7 gene DOID:9007692 Insulin Resistance ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 8868865 Il7 interleukin 7 gene DOID:9970 obesity ISO RGD:737457 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20376352 8868874 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 ISO RGD:1342625 D RGD:7240710 20180130 OMIM 8868874 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 ISO RGD:1342625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 PMID:18784102|PMID:24033266|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28893421 8868874 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:10763 hypertension ISO RGD:708538 D RGD:9068941 20200609 RGD PMID:15311100|REF_RGD_ID:1580741 8868874 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1342625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28235801 8868874 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:585 nephrolithiasis ISO RGD:1342625 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrolithiasis PMID:18784102|PMID:24033266|PMID:28492532|PMID:28893421 8868874 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1342625 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8868874 Nherf1 NHERF family PDZ scaffold protein 1 gene DOID:784 chronic kidney disease ISO RGD:1342625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:18784102|PMID:25741868|PMID:28492532 8868888 Baz1b bromodomain adjacent to zinc finger domain 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8868888 Baz1b bromodomain adjacent to zinc finger domain 1B gene DOID:12849 autistic disorder ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8868888 Baz1b bromodomain adjacent to zinc finger domain 1B gene DOID:1928 Williams-Beuren syndrome ISO RGD:1314248 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8868888 Baz1b bromodomain adjacent to zinc finger domain 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8868888 Baz1b bromodomain adjacent to zinc finger domain 1B gene DOID:5419 schizophrenia ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8868888 Baz1b bromodomain adjacent to zinc finger domain 1B gene DOID:630 genetic disease ISO RGD:1314248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8868888 Baz1b bromodomain adjacent to zinc finger domain 1B gene DOID:8445 intestinal volvulus ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8868888 Baz1b bromodomain adjacent to zinc finger domain 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8868888 Baz1b bromodomain adjacent to zinc finger domain 1B gene DOID:9008419 Volvulus Of Midgut ISO RGD:1314248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8868912 Gpat2 glycerol-3-phosphate acyltransferase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1601718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868943 Snx18 sorting nexin 18 gene DOID:630 genetic disease ISO RGD:1321231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868943 Snx18 sorting nexin 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8868943 Snx18 sorting nexin 18 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 8868948 Gpr4 G protein-coupled receptor 4 gene DOID:630 genetic disease ISO RGD:1323148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868953 Osbpl5 oxysterol binding protein like 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8868953 Osbpl5 oxysterol binding protein like 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1318150 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8868953 Osbpl5 oxysterol binding protein like 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8868953 Osbpl5 oxysterol binding protein like 5 gene DOID:630 genetic disease ISO RGD:1318150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868980 Kcnj15 potassium inwardly rectifying channel subfamily J member 15 gene DOID:1826 epilepsy ISO RGD:731050 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8868980 Kcnj15 potassium inwardly rectifying channel subfamily J member 15 gene DOID:630 genetic disease ISO RGD:731050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8868980 Kcnj15 potassium inwardly rectifying channel subfamily J member 15 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:731050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8869025 Cpne2 copine 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319355 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8869025 Cpne2 copine 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319355 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8869025 Cpne2 copine 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8869025 Cpne2 copine 2 gene DOID:630 genetic disease ISO RGD:1319355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869078 Alad aminolevulinate dehydratase gene DOID:0060041 autism spectrum disorder ISO RGD:736545 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8869078 Alad aminolevulinate dehydratase gene DOID:10763 hypertension ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20123609 8869078 Alad aminolevulinate dehydratase gene DOID:10763 hypertension no_association ISO RGD:736545 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:11335187|REF_RGD_ID:1601156 8869078 Alad aminolevulinate dehydratase gene DOID:10923 sickle cell anemia ISO RGD:736545 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte PMID:900140|REF_RGD_ID:12904674 8869078 Alad aminolevulinate dehydratase gene DOID:11394 adult respiratory distress syndrome ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8869078 Alad aminolevulinate dehydratase gene DOID:11832 visual epilepsy ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:brain, liver (rat) PMID:17320826|REF_RGD_ID:4144168 8869078 Alad aminolevulinate dehydratase gene DOID:1459 hypothyroidism ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:blood (rat) PMID:17720948|REF_RGD_ID:4144163 8869078 Alad aminolevulinate dehydratase gene DOID:1824 status epilepticus ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:hippocampus, frontal cortex (rat) PMID:20026167|REF_RGD_ID:4144137 8869078 Alad aminolevulinate dehydratase gene DOID:2352 hemochromatosis treatment ISO RGD:2083 D RGD:9068941 20200609 RGD PMID:3679087|REF_RGD_ID:12904688 8869078 Alad aminolevulinate dehydratase gene DOID:2355 anemia ISO RGD:2083 D RGD:9068941 20200609 RGD associated with Trypanosomiasis;protein:increased activity:erythrocyte PMID:21854703|REF_RGD_ID:12904694 8869078 Alad aminolevulinate dehydratase gene DOID:3021 acute kidney failure ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:19484701|REF_RGD_ID:4144146 8869078 Alad aminolevulinate dehydratase gene DOID:3132 porphyria cutanea tarda ISO RGD:736545 D RGD:9068941 20200609 RGD protein:decreased activity:blood, erythrocyte PMID:8100994|REF_RGD_ID:12904682 8869078 Alad aminolevulinate dehydratase gene DOID:3132 porphyria cutanea tarda treatment ISO RGD:736545 D RGD:9068941 20200609 RGD PMID:526041|REF_RGD_ID:12904671 8869078 Alad aminolevulinate dehydratase gene DOID:3565 meningioma ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16140629 8869078 Alad aminolevulinate dehydratase gene DOID:409 liver disease ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24631795 8869078 Alad aminolevulinate dehydratase gene DOID:4450 renal cell carcinoma ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21799727 8869078 Alad aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:10133 D RGD:9068941 20200609 RGD protein:decreased activity:liver (human) PMID:6848403|REF_RGD_ID:15042852 8869078 Alad aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:liver (human) PMID:6848403|REF_RGD_ID:15042852 8869078 Alad aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8869078 Alad aminolevulinate dehydratase gene DOID:5082 liver cirrhosis ISO RGD:736545 D RGD:9068941 20200609 RGD protein:decreased activity:liver (human) PMID:6848403|REF_RGD_ID:15042852 8869078 Alad aminolevulinate dehydratase gene DOID:557 kidney disease ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792432|PMID:24631795 8869078 Alad aminolevulinate dehydratase gene DOID:630 genetic disease ISO RGD:736545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8869078 Alad aminolevulinate dehydratase gene DOID:74 hematopoietic system disease ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24631795 8869078 Alad aminolevulinate dehydratase gene DOID:8955 sideroblastic anemia ISO RGD:10133 D RGD:9068941 20200609 RGD protein:decreased activity:kidney, liver, spleen PMID:5891055|REF_RGD_ID:12904678 8869078 Alad aminolevulinate dehydratase gene DOID:9000304 Manganese Poisoning ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:striatum (rat) PMID:18778733|REF_RGD_ID:4144152 8869078 Alad aminolevulinate dehydratase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20123609 8869078 Alad aminolevulinate dehydratase gene DOID:9002304 Prostatic Neoplasms ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24500903 8869078 Alad aminolevulinate dehydratase gene DOID:9005584 Hepatic Porphyrias ISO RGD:2083 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:6721832|REF_RGD_ID:4144806 8869078 Alad aminolevulinate dehydratase gene DOID:9005584 Hepatic Porphyrias ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1905639|PMID:3684400 8869078 Alad aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10133 D RGD:9068941 20200609 RGD protein:decreased activity:blood, liver PMID:7728901|REF_RGD_ID:12904683 8869078 Alad aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:liver, kidney (rat) PMID:19043199|REF_RGD_ID:4144150 8869078 Alad aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:10133 D RGD:9068941 20200609 RGD protein:decreased activity:liver, erythrocyte (rat) PMID:10224671|REF_RGD_ID:15039405 8869078 Alad aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:liver, erythrocyte (rat) PMID:10224671|REF_RGD_ID:15039405 8869078 Alad aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:736545 D RGD:9068941 20200609 RGD protein:decreased activity:liver, erythrocyte (rat) PMID:10224671|REF_RGD_ID:15039405 8869078 Alad aminolevulinate dehydratase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2083 D RGD:9068941 20200609 RGD PMID:18668330|PMID:21864646|PMID:24947461|REF_RGD_ID:12904692|REF_RGD_ID:12904702|REF_RGD_ID:12904704 8869078 Alad aminolevulinate dehydratase gene DOID:9006617 Fatigue ISO RGD:2083 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:17204241|REF_RGD_ID:1599013 8869078 Alad aminolevulinate dehydratase gene DOID:9006693 ALAD-Deficiency Porphyria ISO RGD:736545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Porphobilinogen synthase deficiency | ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic PMID:10519994|PMID:11071662|PMID:11342419|PMID:15303011|PMID:1569184|PMID:16398658|PMID:1716854|PMID:17236137|PMID:17576681|PMID:19015748|PMID:1905639|PMID:2063868|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33199206|PMID:3684400|PMID:513604|PMID:9536098 8869078 Alad aminolevulinate dehydratase gene DOID:9006693 ALAD-Deficiency Porphyria susceptibility ISO RGD:736545 D RGD:7240710 20240320 OMIM 8869078 Alad aminolevulinate dehydratase gene DOID:9007159 Nervous System Lead Poisoning ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21439310 8869078 Alad aminolevulinate dehydratase gene DOID:9007964 Arsenic Poisoning ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:blood (rat) PMID:19022878|REF_RGD_ID:4144202 8869078 Alad aminolevulinate dehydratase gene DOID:9008914 Lead Poisoning ISO RGD:2083 D RGD:9068941 20200609 RGD PMID:16597373|REF_RGD_ID:1599014 8869078 Alad aminolevulinate dehydratase gene DOID:9008914 Lead Poisoning ISO RGD:2083 D RGD:9068941 20200609 RGD protein:decreased activity:blood (rat) PMID:19647414|REF_RGD_ID:4144142 8869078 Alad aminolevulinate dehydratase gene DOID:9008914 Lead Poisoning ISO RGD:736545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21396434|PMID:23792432|PMID:24631795 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:0050328 congenital hypothyroidism ISO RGD:2206 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:skull, serum PMID:7920889|REF_RGD_ID:6483557 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:1621634 D RGD:9068941 20200609 RGD mRNA:increased expression:long bone PMID:22573557|REF_RGD_ID:7207229 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:0080322 polycystic kidney disease ISO RGD:2206 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12376805|REF_RGD_ID:7207414 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:619567 D RGD:9068941 20240314 RGD protein:increased expression:serum: PMID:21908029|REF_RGD_ID:7207408 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:2206 D RGD:9068941 20200609 RGD PMID:2106357|REF_RGD_ID:6483581 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:0111253 neurofibromatosis 1 ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:22120694|REF_RGD_ID:6483542 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:0111535 progressive osseous heteroplasia ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:0111940 immunodeficiency 42 ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:619567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:10283 prostate cancer ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:12565780|REF_RGD_ID:6483580 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:11249 vitamin K deficiency bleeding ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:16869104|REF_RGD_ID:6483568 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:11476 osteoporosis ISO RGD:2206 D RGD:9068941 20200609 RGD PMID:21550389|REF_RGD_ID:6483552 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:11476 osteoporosis ISO RGD:619567 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum PMID:15108065|REF_RGD_ID:6483579 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:11476 osteoporosis susceptibility ISO RGD:619567 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:g.-298C>T (human) PMID:23137636|REF_RGD_ID:10045665 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:1184 nephrotic syndrome ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22989431|REF_RGD_ID:7205481 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:14330 Parkinson's disease ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16114020|REF_RGD_ID:7207224 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:1485 cystic fibrosis ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16622660|REF_RGD_ID:6483578 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:1540 parathyroid carcinoma ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:182 calcinosis ISO RGD:619567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:182 calcinosis ISO RGD:619567 D RGD:9068941 20200609 RGD associated with hypertension;protein:undercarboxylated:serum PMID:20197689|REF_RGD_ID:6483566 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:182 calcinosis ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:2841 asthma ISO RGD:619567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8429434 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:4079 heart valve disease ISO RGD:619567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:5812 MHC class II deficiency ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:585 nephrolithiasis ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:630 genetic disease ISO RGD:619567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:7148 rheumatoid arthritis ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:22447331|REF_RGD_ID:6483593 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:7148 rheumatoid arthritis ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3488088|REF_RGD_ID:6483600 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:783 end stage renal disease ISO RGD:2206 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17365904|REF_RGD_ID:7207409 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:783 end stage renal disease ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20845051|REF_RGD_ID:7207235 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:8398 osteoarthritis disease_progression ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:20157712|REF_RGD_ID:6483599 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:8778 Crohn's disease ISO RGD:619567 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone PMID:22535626|REF_RGD_ID:6483321 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:8778 Crohn's disease ISO RGD:619567 D RGD:9068941 20200609 RGD protein:undercarboxylated:serum PMID:21482072|REF_RGD_ID:6483546 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9002165 Diabetic Nephropathies ISO RGD:619567 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type2; protein:increased expression:serum: PMID:9347246|REF_RGD_ID:7207424 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:619567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14666681 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9002315 Kidney Calculi ISO RGD:1621634 D RGD:9068941 20200609 RGD PMID:12674322|REF_RGD_ID:7207412 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9002331 Knee Osteoarthritis ISO RGD:2206 D RGD:9068941 20200609 RGD PMID:21387139|REF_RGD_ID:6483595 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9002331 Knee Osteoarthritis ISO RGD:619567 D RGD:9068941 20200609 RGD PMID:22294259|REF_RGD_ID:6483563 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9002407 Spinal Fractures ISO RGD:619567 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; PMID:19641839|REF_RGD_ID:7207248 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9002407 Spinal Fractures disease_progression ISO RGD:619567 D RGD:9068941 20200609 RGD associated with osteoporosis PMID:12697366|REF_RGD_ID:7207225 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9002457 Experimental Arthritis ISO RGD:1621634 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21406003|REF_RGD_ID:6483549 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9002589 Bone Fractures ISO RGD:619567 D RGD:9068941 20200609 RGD associated with kidney failure, chronic; PMID:21784896|REF_RGD_ID:7207231 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2206 D RGD:9068941 20200609 RGD protein:reduced expression:serum (rat) PMID:19494718|REF_RGD_ID:2316184 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9006359 Vitamin D Deficiency ISO RGD:2206 D RGD:9068941 20200609 RGD PMID:3105848|REF_RGD_ID:6483561 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9006646 Metabolic Syndrome ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21760737|REF_RGD_ID:6483594 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:619567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:15747054|REF_RGD_ID:7207410 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9409 diabetes insipidus ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:9661594|REF_RGD_ID:7207422 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:619567 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21041817|REF_RGD_ID:7207232 8869097 Bglap bone gamma-carboxyglutamate protein gene DOID:9744 type 1 diabetes mellitus ISO RGD:619567 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9850345|REF_RGD_ID:7207419 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:0050073 invasive aspergillosis disease_progression ISO RGD:1318407 D RGD:9068941 20200609 RGD PMID:17379855|REF_RGD_ID:7483617 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:0050486 exanthem ISO RGD:1318406 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin PMID:18384452|REF_RGD_ID:7483602 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1318406 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin PMID:22048239|REF_RGD_ID:7483601 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1318407 D RGD:9068941 20200609 RGD PMID:15287366|REF_RGD_ID:7483593 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:1205 allergic disease ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:12306 vitiligo ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526340 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:1564 fungal infectious disease ISO RGD:1318406 D RGD:9068941 20200609 RGD associated with Rhinosinusitis PMID:22287435|REF_RGD_ID:7483612 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:1612 breast cancer disease_progression ISO RGD:1318406 D RGD:9068941 20200609 RGD PMID:21624121|REF_RGD_ID:7483628 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:1936 atherosclerosis ISO RGD:1318407 D RGD:9068941 20200609 RGD PMID:24114205|REF_RGD_ID:7483610 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:224 transient cerebral ischemia ISO RGD:1308562 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19428685|REF_RGD_ID:7488896 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:2841 asthma ISO RGD:1318407 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:19917684|REF_RGD_ID:8549811 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:2920 membranoproliferative glomerulonephritis treatment ISO RGD:1308562 D RGD:9068941 20200609 RGD PMID:23192593|REF_RGD_ID:7483632 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1318406 D RGD:9068941 20200609 RGD PMID:23192593|REF_RGD_ID:7483632 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:418 systemic scleroderma ISO RGD:1318406 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:21742595|REF_RGD_ID:7483587 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:552 pneumonia ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:630 genetic disease ISO RGD:1318406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453841|PMID:20453842|PMID:23143596 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:8577 ulcerative colitis ISO RGD:1318406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16306769 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:8893 psoriasis ISO RGD:1318406 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:10843722|REF_RGD_ID:7483581 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:8893 psoriasis ISO RGD:1318407 D RGD:9068941 20200609 RGD PMID:19662682|REF_RGD_ID:7483598 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:9001472 Nasal Polyps ISO RGD:1318406 D RGD:9068941 20200609 RGD associated with Rhinosinusitis PMID:22287435|REF_RGD_ID:7483612 8869112 Ccr6 C-C motif chemokine receptor 6 gene DOID:9003036 Oral Lichen Planus ISO RGD:1318406 D RGD:9068941 20200609 RGD PMID:16454813|REF_RGD_ID:7483584 8869129 Pwwp2a PWWP domain containing 2A gene DOID:630 genetic disease ISO RGD:1642916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869137 Slc39a1 solute carrier family 39 member 1 gene DOID:0060496 respiratory allergy ISO RGD:1313154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 8869137 Slc39a1 solute carrier family 39 member 1 gene DOID:0070048 GAND syndrome ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 8869137 Slc39a1 solute carrier family 39 member 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8869137 Slc39a1 solute carrier family 39 member 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8869137 Slc39a1 solute carrier family 39 member 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8869137 Slc39a1 solute carrier family 39 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8869137 Slc39a1 solute carrier family 39 member 1 gene DOID:5812 MHC class II deficiency ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8869137 Slc39a1 solute carrier family 39 member 1 gene DOID:630 genetic disease ISO RGD:1313154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869137 Slc39a1 solute carrier family 39 member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16700911|PMID:19208208 8869137 Slc39a1 solute carrier family 39 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8869150 Mdm4 MDM4 regulator of p53 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1319584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8869150 Mdm4 MDM4 regulator of p53 gene DOID:10316 pneumoconiosis ISO RGD:1319584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 8869150 Mdm4 MDM4 regulator of p53 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1319584 D RGD:9068941 20200609 RGD PMID:23861893|REF_RGD_ID:10047419 8869150 Mdm4 MDM4 regulator of p53 gene DOID:12849 autistic disorder ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8869150 Mdm4 MDM4 regulator of p53 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319585 D RGD:9068941 20220825 MouseDO 8869150 Mdm4 MDM4 regulator of p53 gene DOID:1540 parathyroid carcinoma ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8869150 Mdm4 MDM4 regulator of p53 gene DOID:3068 glioblastoma ISO RGD:1319584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20472715 8869150 Mdm4 MDM4 regulator of p53 gene DOID:630 genetic disease ISO RGD:1319584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869150 Mdm4 MDM4 regulator of p53 gene DOID:9003643 Bone Marrow Failure Syndrome 6 ISO RGD:1319584 D RGD:7240710 20200429 OMIM 8869150 Mdm4 MDM4 regulator of p53 gene DOID:9003643 Bone Marrow Failure Syndrome 6 ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 6 PMID:25741868|PMID:32300648 8869150 Mdm4 MDM4 regulator of p53 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1319584 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8869150 Mdm4 MDM4 regulator of p53 gene DOID:9008939 Breast Neoplasms ISO RGD:1319584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535733 8869150 Mdm4 MDM4 regulator of p53 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8869182 Myct1 MYC target 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1322941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 8869182 Myct1 MYC target 1 gene DOID:630 genetic disease ISO RGD:1322941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869187 Szrd1 SUZ RNA binding domain containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1607050 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8869203 Nipal3 NIPA like domain containing 3 gene DOID:630 genetic disease ISO RGD:1603619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869203 Nipal3 NIPA like domain containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 8869203 Nipal3 NIPA like domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8869219 Ocel1 occludin/ELL domain containing 1 gene DOID:630 genetic disease ISO RGD:1603010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869230 Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:13580 cholestasis ISO RGD:1602472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8869230 Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:630 genetic disease ISO RGD:1602472 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30626930|PMID:32333439 8869230 Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:9004032 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT ISO RGD:1602472 D RGD:7240710 20190315 OMIM 8869230 Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:9004032 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT ISO RGD:1602472 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: DNAJC12-related condition | ClinVar Annotator: match by term: Hyperphenylalaninemia, mild, non-bh4-deficient PMID:25741868|PMID:28132689|PMID:28492532|PMID:28794131|PMID:28892570|PMID:30139987|PMID:30626930|PMID:32333439|PMID:9159748 8869230 Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1602472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8869252 Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 gene DOID:0060417 3p deletion syndrome ISO RGD:1321831 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8869252 Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 gene DOID:630 genetic disease ISO RGD:1321831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317786 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:10283 prostate cancer ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:SNP: :rs7903146 (human) PMID:24961829|REF_RGD_ID:13506825 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:SNPs: :rs7094463, rs10749127, rs11196224 (human) PMID:25678841|REF_RGD_ID:13506821 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:1059 intellectual disability ISO RGD:1317786 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:11714 gestational diabetes susceptibility ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18984664|REF_RGD_ID:2312455 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:12849 autistic disorder ISO RGD:1317786 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:34003604 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:1612 breast cancer susceptibility ISO RGD:1317786 D RGD:9068941 20220526 RGD DNA:SNP: :rs7003146(human) PMID:24338422|REF_RGD_ID:152599188 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:1793 pancreatic cancer ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:299 adenocarcinoma ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:630 genetic disease ISO RGD:1317786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9000528 Coronary Disease ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1317786 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP (human) PMID:19506043|REF_RGD_ID:6906926 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9002211 Hyperalgesia ISO RGD:1317786 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33607128 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9002221 Hyperplasia ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21383188 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21383188 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9006205 Animal Disease Models ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9007692 Insulin Resistance ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:19509102|REF_RGD_ID:2312433 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1317786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21892161|PMID:24836286 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9256 colorectal cancer ISO RGD:1317786 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25617745|REF_RGD_ID:13450926 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9351 diabetes mellitus ISO RGD:1317786 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNP (human) PMID:19585101|REF_RGD_ID:2312417 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16415884|PMID:17206141|PMID:17245407|PMID:17340123|PMID:17460697|PMID:17463248|PMID:17463249|PMID:17470138|PMID:17503332|PMID:17609304|PMID:17671651|PMID:18097733|PMID:19602480|PMID:20118932|PMID:21673050 8869259 Tcf7l2 transcription factor 7 like 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1317786 D RGD:7240710 20230505 OMIM 8869301 N4bp1 NEDD4 binding protein 1 gene DOID:630 genetic disease ISO RGD:1605706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869360 Prrt1 proline rich transmembrane protein 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1345386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8869360 Prrt1 proline rich transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1345386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:0081267 graft-versus-host disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15322151 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1351958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 PMID:21681106|PMID:23936043 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:1024 leprosy ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25320285 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:10247 pleurisy ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15380531 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:11573 listeriosis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16177108|PMID:21699557 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:12361 Graves' disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:1911 endodermal sinus tumor ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9111512 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:285 hairy cell leukemia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29984229 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:3308 embryonal carcinoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9111512 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:399 tuberculosis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30202016 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:630 genetic disease ISO RGD:1351958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:707 B-cell lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:820 myocarditis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745696|PMID:12031769 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908157|PMID:11552987|PMID:12358914|PMID:7621881|PMID:8656679|PMID:8701986|PMID:8896393|PMID:9058727 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9000220 Coxsackievirus Infections ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745696 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9000918 Disease Progression ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11552987 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9001274 Diabetes Mellitus, Congenital Autoimmune ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12930356 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9001415 Mycobacterium Infections ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15316035|PMID:18941223 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9002137 Infectious Ectromelia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12235215 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9002689 Spontaneous Neoplasm Regression ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9003867 Lymphomatoid Papulosis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11594583 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9005968 Neuralgia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9007355 Hashimoto Disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16372246 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9007702 Carcinogenesis ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11552987 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9119 acute myeloid leukemia ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10512160|PMID:11918534|PMID:9058727 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:934 viral infectious disease ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:9538 multiple myeloma ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9058727 8869393 Tnfsf8 TNF superfamily member 8 gene DOID:999 hypereosinophilic syndrome ISO RGD:1351958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8896393 8869407 Cpq carboxypeptidase Q gene DOID:4450 renal cell carcinoma ISO RGD:736012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 8869407 Cpq carboxypeptidase Q gene DOID:630 genetic disease ISO RGD:736012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869407 Cpq carboxypeptidase Q gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736012 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8869429 Mcf2l MCF.2 cell line derived transforming sequence like gene DOID:2222 factor X deficiency ISO RGD:737008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8869429 Mcf2l MCF.2 cell line derived transforming sequence like gene DOID:630 genetic disease ISO RGD:737008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:0050902 medulloblastoma ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:0050902 medulloblastoma severity ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:25576913|REF_RGD_ID:13702904 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:730916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:0080016 spina bifida ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:11069 D RGD:9068941 20200609 RGD PMID:22447844|REF_RGD_ID:11075097 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:0080777 lung sarcomatoid carcinoma ISO RGD:730916 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lung sarcomatoid carcinoma PMID:28492532 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:0110213 isolated cleft palate ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:22473090|PMID:24728327|PMID:25741868|PMID:27153395|PMID:28492532 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:10763 hypertension ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:1657776|REF_RGD_ID:11080972 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:11446 sciatic neuropathy ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:19909480|REF_RGD_ID:11080976 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:12215 oligohydramnios ISO RGD:3284 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17519529|REF_RGD_ID:2292203 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:1240 leukemia ISO RGD:730916 D RGD:9068941 20200609 RGD DNA:fusion protein, missense mutation: :p.H650Q, p.R748G (human) PMID:21224473|REF_RGD_ID:11075100 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:1520 colon carcinoma ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:24033266|PMID:25741868|PMID:28492532 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:1793 pancreatic cancer ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:14695158|REF_RGD_ID:2324850 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:1793 pancreatic cancer ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7665222|REF_RGD_ID:2324851 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:1909 melanoma ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma | ClinVar Annotator: match by term: Melanoma PMID:24132921|PMID:28492532 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:2226 myeloproliferative neoplasm ISO RGD:730916 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:22703879|PMID:22718859|PMID:24728327|PMID:25741868|PMID:28492532|PMID:35101336 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:2394 ovarian cancer ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22473090|PMID:24728327|PMID:25336117|PMID:25741868|PMID:27153395|PMID:28492532|PMID:30093976|PMID:30359545 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:7524068|REF_RGD_ID:2292156 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:2696 Leydig cell tumor ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:alternative form:testis PMID:11920744|REF_RGD_ID:2298580 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:2696 Leydig cell tumor ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:testis, leydig cell PMID:11994382|REF_RGD_ID:2298579 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:3459 breast carcinoma disease_progression ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16741576|REF_RGD_ID:2292178 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:16917016|REF_RGD_ID:11084934 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:3770 pulmonary fibrosis ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:9458803|REF_RGD_ID:11080970 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:3827 congenital diaphragmatic hernia ISO RGD:11069 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:3840 craniopharyngioma disease_progression ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:20190664|REF_RGD_ID:11080971 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:3907 lung squamous cell carcinoma ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:24033266|PMID:25741868|PMID:28492532 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:4202 brain stem glioma severity ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:20197468|REF_RGD_ID:13702892 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:4297 scimitar syndrome ISO RGD:11069 D RGD:9068941 20231109 MouseDO OMIM:106700 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:4440 seminoma ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:splice variant:testis PMID:8610136|REF_RGD_ID:2292154 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:12866380|REF_RGD_ID:2292157 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:24486648|REF_RGD_ID:11075087 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:6000 congestive heart failure ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28347583 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:630 genetic disease ISO RGD:730916 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:674 cleft palate ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264099 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:850 lung disease ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20920717 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:8549 chronic ulcer of skin ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:16383039|REF_RGD_ID:2292163 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:8683 myeloid sarcoma treatment ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:22348015|REF_RGD_ID:11075098 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:8692 myeloid leukemia ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:24486648|REF_RGD_ID:11075087 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:8719 in situ carcinoma ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:splice variant:testis PMID:8610136|REF_RGD_ID:2292154 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9000099 Experimental Colitis treatment ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:24115822|REF_RGD_ID:11080973 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:alternative form:testis PMID:11920744|REF_RGD_ID:2298580 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:730916 D RGD:9068941 20200609 RGD mRNA:splice variant:testis PMID:8610136|REF_RGD_ID:2292154 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9000998 Brain Injuries ISO RGD:3284 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, hippocampus PMID:9645955|REF_RGD_ID:11084932 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9001371 Eosinophilia ISO RGD:730916 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:23114151|REF_RGD_ID:11075088 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9001371 Eosinophilia ISO RGD:730916 D RGD:9068941 20200609 RGD DNA:translocation: (human) PMID:15284118|REF_RGD_ID:1580848 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:17382907|REF_RGD_ID:11080969 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9001916 Fetal Death ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9001997 Pdgfra-Associated Chronic Eosinophilic Leukemia ISO RGD:730916 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:22806436|REF_RGD_ID:11075089 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:11889420|REF_RGD_ID:11080974 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:730916 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9002514 Neointima treatment ISO RGD:3284 D RGD:9068941 20200609 RGD associated with Carotid Artery Injuries PMID:9323080|REF_RGD_ID:11087557 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:730916 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:15791568|REF_RGD_ID:2298578 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:730916 D RGD:9068941 20200609 RGD protein:increased expression:ovary, epithelial cell PMID:8402626|REF_RGD_ID:2292199 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:3284 D RGD:9068941 20200609 RGD PMID:16042218|REF_RGD_ID:11080975 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9004265 Endometrioid Carcinomas ISO RGD:730916 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:15791568|REF_RGD_ID:2298578 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9004268 Uterine Neoplasms ISO RGD:730916 D RGD:9068941 20200609 RGD PMID:17049587|REF_RGD_ID:2292177 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3284 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10550325|REF_RGD_ID:8554477 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17568391|PMID:17576681|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:23752188|PMID:24033266|PMID:24728327|PMID:25336117|PMID:25741868|PMID:26580448|PMID:26928227|PMID:27153395|PMID:28492532|PMID:28592523|PMID:29978744|PMID:30359545|PMID:30389923|PMID:9536098 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730916 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17568391|PMID:17576681|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25336117|PMID:25741868|PMID:26580448|PMID:26928227|PMID:27153395|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30359545|PMID:30389923|PMID:30761385|PMID:31173267|PMID:33332384|PMID:35101336|PMID:9536098 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9007096 Stroke ISO RGD:3284 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:15342968|REF_RGD_ID:2292165 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9007480 Hyperoxia ISO RGD:3284 D RGD:9068941 20200609 RGD protein:increased expression:vascular associated smooth muscle cell PMID:15722379|REF_RGD_ID:1580851 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9007870 Respiratory System Abnormalities ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9008257 Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal ISO RGD:730916 D RGD:7240710 20200304 OMIM 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9008257 Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal ISO RGD:730916 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal PMID:12522257|PMID:14645423|PMID:14699510|PMID:15928335|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:22473090|PMID:22703879|PMID:22745105|PMID:24728327|PMID:25157968|PMID:25741868|PMID:28492532|PMID:28592523|PMID:29486293|PMID:29978744|PMID:3152525|PMID:3152526|PMID:33332384 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11023856 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28166811|PMID:28492532|PMID:28592523|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:3152525|PMID:3152526|PMID:9536098 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:3152525|PMID:3152526|PMID:33332384|PMID:9536098 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:31173267|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24132921|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:30833958|PMID:31173267|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35101336|PMID:9536098 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730916 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:12522257|PMID:12949711|PMID:14645423|PMID:14699510|PMID:15146165|PMID:15685537|PMID:15928335|PMID:16199547|PMID:16638875|PMID:16954519|PMID:17087936|PMID:17087943|PMID:17566086|PMID:17568391|PMID:17576681|PMID:18794084|PMID:20071345|PMID:20169295|PMID:22473090|PMID:22703879|PMID:22718859|PMID:22745105|PMID:23752188|PMID:24033266|PMID:24132921|PMID:24728327|PMID:24969172|PMID:25107291|PMID:25157968|PMID:25336117|PMID:25640679|PMID:25741868|PMID:26130666|PMID:26580448|PMID:26928227|PMID:27153395|PMID:27701467|PMID:28492532|PMID:28592523|PMID:28873162|PMID:29978744|PMID:30093976|PMID:30359545|PMID:30389923|PMID:30761385|PMID:30833958|PMID:31173267|PMID:3152525|PMID:3152526|PMID:33332384|PMID:35075231|PMID:35101336|PMID:36113475|PMID:9536098 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:999 hypereosinophilic syndrome ISO RGD:730916 D RGD:7240710 20180130 OMIM 8869505 Pdgfra platelet derived growth factor receptor alpha gene DOID:999 hypereosinophilic syndrome ISO RGD:730916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypereosinophilic syndrome, idiopathic, resistant to imatinib | ClinVar Annotator: match by term: Idiopathic hypereosinophilic syndrome PMID:12660384|PMID:17576681|PMID:20071345|PMID:20169295|PMID:22703879|PMID:22718859|PMID:24033266|PMID:24728327|PMID:25336117|PMID:25741868|PMID:26928227|PMID:28492532|PMID:28873162|PMID:30093976|PMID:30359545|PMID:30389923|PMID:33332384|PMID:35101336|PMID:9536098 8869541 Liph lipase H gene DOID:0110698 hypotrichosis 1 ISO RGD:1320902 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypotrichosis simplex PMID:18830268|PMID:19892526|PMID:20213768|PMID:21352330|PMID:22449147|PMID:23590372|PMID:24033266|PMID:24722066|PMID:25201209|PMID:25271093|PMID:25741868|PMID:25899282 8869541 Liph lipase H gene DOID:0110704 hypotrichosis 7 ISO RGD:1320902 D RGD:7240710 20180130 OMIM 8869541 Liph lipase H gene DOID:0110704 hypotrichosis 7 ISO RGD:1320902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alopecia Universalis Congenita, Mari type | ClinVar Annotator: match by term: Hypotrichosis 7 PMID:17095700|PMID:17333281|PMID:18445047|PMID:18830268|PMID:19365138|PMID:19892526|PMID:20213768|PMID:21352330|PMID:21426374|PMID:22449147|PMID:23590372|PMID:24033266|PMID:24722066|PMID:25201209|PMID:25271093|PMID:25741868|PMID:25899282|PMID:28492532 8869541 Liph lipase H gene DOID:0111546 Currarino syndrome ISO RGD:1320902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8869541 Liph lipase H gene DOID:0111572 familial woolly hair syndrome ISO RGD:1320902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23066499 8869541 Liph lipase H gene DOID:4535 hypotrichosis ISO RGD:1320902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 2, with or without hypotrichosis PMID:17333281|PMID:18445047|PMID:18830268|PMID:19365138|PMID:19892526|PMID:20213768|PMID:21352330|PMID:21426374|PMID:22449147|PMID:23590372|PMID:24033266|PMID:24722066|PMID:25201209|PMID:25271093|PMID:25741868|PMID:25899282|PMID:28492532 8869541 Liph lipase H gene DOID:630 genetic disease ISO RGD:1320902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8869568 Myl4 myosin light chain 4 gene DOID:0050650 familial atrial fibrillation ISO RGD:1350723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:27066836|PMID:28492532|PMID:29080865 8869568 Myl4 myosin light chain 4 gene DOID:0050700 cardiomyopathy ISO RGD:1350723 D RGD:9068941 20210205 RGD human gene in rat model PMID:29080865|REF_RGD_ID:40902867 8869568 Myl4 myosin light chain 4 gene DOID:0050700 cardiomyopathy ISO RGD:1591197 D RGD:9068941 20210205 RGD PMID:29080865|REF_RGD_ID:40902867 8869568 Myl4 myosin light chain 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 8869568 Myl4 myosin light chain 4 gene DOID:630 genetic disease ISO RGD:1350723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8869568 Myl4 myosin light chain 4 gene DOID:9002195 Atrial Dilation and Standstill susceptibility ISO RGD:1350723 D RGD:9068941 20210205 RGD DNA:missense mutation:cds (c.31G>A, p.E11K) (human) PMID:29080865|REF_RGD_ID:40902867 8869568 Myl4 myosin light chain 4 gene DOID:9005256 Familial Atrial Fibrillation 18 ISO RGD:1350723 D RGD:7240710 20190315 OMIM 8869568 Myl4 myosin light chain 4 gene DOID:9005256 Familial Atrial Fibrillation 18 ISO RGD:1350723 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 18 | ClinVar Annotator: match by term: MYL4-related condition PMID:16199547|PMID:17576681|PMID:25741868|PMID:25807286|PMID:27066836|PMID:27742809|PMID:28492532|PMID:29080865|PMID:9536098 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:0050160 inhalation anthrax disease_progression ISO RGD:1316123 D RGD:9068941 20200609 RGD PMID:21124994|REF_RGD_ID:5135283 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:0080600 COVID-19 ISO RGD:1316122 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:0081267 graft-versus-host disease ISO RGD:1316123 D RGD:9068941 20200609 RGD protein:increased expression:intestine, liver, lung PMID:19218194|REF_RGD_ID:5135435 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:10608 celiac disease ISO RGD:1316122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1316122 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17550373|REF_RGD_ID:5135438 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:13949 interstitial cystitis ISO RGD:1316122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18957084 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:2799 bronchiolitis obliterans ISO RGD:1316122 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12097412|REF_RGD_ID:5135451 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:2799 bronchiolitis obliterans ISO RGD:1316123 D RGD:9068941 20200609 RGD PMID:12097412|REF_RGD_ID:5135451 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1316123 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1316122 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:17925429|REF_RGD_ID:5135436 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1316122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:630 genetic disease ISO RGD:1316122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1316123 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1316123 D RGD:9068941 20200609 RGD PMID:14991597|REF_RGD_ID:5135448 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:874 bacterial pneumonia ISO RGD:1316123 D RGD:9068941 20200609 RGD PMID:15618188|REF_RGD_ID:5135459 8869583 Cxcl11 C-X-C motif chemokine ligand 11 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8869592 Trip6 thyroid hormone receptor interactor 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8869592 Trip6 thyroid hormone receptor interactor 6 gene DOID:630 genetic disease ISO RGD:1353366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869605 Pnoc prepronociceptin gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:3362 D RGD:9068941 20231026 RGD mRNA:increased expression:nucleus accumbens PMID:29678771|REF_RGD_ID:401851055 8869605 Pnoc prepronociceptin gene DOID:0060001 withdrawal disorder ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10680585 8869605 Pnoc prepronociceptin gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8869605 Pnoc prepronociceptin gene DOID:0080855 Parkinsonism ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26687234 8869605 Pnoc prepronociceptin gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:733566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8869605 Pnoc prepronociceptin gene DOID:630 genetic disease ISO RGD:733566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869605 Pnoc prepronociceptin gene DOID:8927 learning disability ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401555 8869605 Pnoc prepronociceptin gene DOID:9000641 Pain ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19231294 8869605 Pnoc prepronociceptin gene DOID:9001579 Neurogenic Inflammation ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11973003 8869605 Pnoc prepronociceptin gene DOID:9001600 Wounds and Injuries ISO RGD:3362 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus: PMID:11931711|REF_RGD_ID:9835019 8869605 Pnoc prepronociceptin gene DOID:9002211 Hyperalgesia ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12665541|PMID:19231294 8869605 Pnoc prepronociceptin gene DOID:9006024 Hypotension ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10794074 8869605 Pnoc prepronociceptin gene DOID:9008023 Memory Disorders ISO RGD:733566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401555 8869605 Pnoc prepronociceptin gene DOID:9828 neonatal abstinence syndrome severity ISO RGD:733566 D RGD:9068941 20240314 RGD associated with maternal opioid abuse;DNA:SNP:intron (rs732636|rs351776|rs2614095 ) (human) PMID:26233486|REF_RGD_ID:11079504 8869620 Rps4x ribosomal protein S4 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8869620 Rps4x ribosomal protein S4 X-linked gene DOID:12849 autistic disorder ISO RGD:1353859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8869620 Rps4x ribosomal protein S4 X-linked gene DOID:630 genetic disease ISO RGD:1353859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869620 Rps4x ribosomal protein S4 X-linked gene DOID:9008939 Breast Neoplasms ISO RGD:1353859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8869638 Nipal4 NIPA like domain containing 4 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:2306343 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:15317751|PMID:17557927|PMID:19434086|PMID:20016120|PMID:20301593|PMID:22098531|PMID:22622417|PMID:24397709|PMID:25326635|PMID:25458912|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29444371|PMID:29453417|PMID:31046801|PMID:31168818|PMID:31347739|PMID:31532840|PMID:33786896 8869638 Nipal4 NIPA like domain containing 4 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:2306343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 8869638 Nipal4 NIPA like domain containing 4 gene DOID:0060715 autosomal recessive congenital ichthyosis 6 ISO RGD:2306343 D RGD:7240710 20180130 OMIM 8869638 Nipal4 NIPA like domain containing 4 gene DOID:0060715 autosomal recessive congenital ichthyosis 6 ISO RGD:2306343 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 PMID:15317751|PMID:17557927|PMID:19434086|PMID:20016120|PMID:20301593|PMID:22098531|PMID:22622417|PMID:24397709|PMID:25326635|PMID:25458912|PMID:25741868|PMID:26762237|PMID:27025581|PMID:28492532|PMID:29444371|PMID:29453417|PMID:31046801|PMID:31168818|PMID:31347739|PMID:31532840|PMID:33786896 8869638 Nipal4 NIPA like domain containing 4 gene DOID:0111195 erythrokeratodermia variabilis et progressiva 1 ISO RGD:2306343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 8869638 Nipal4 NIPA like domain containing 4 gene DOID:630 genetic disease ISO RGD:2306343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869648 Mrap2 melanocortin 2 receptor accessory protein 2 gene DOID:630 genetic disease ISO RGD:1320449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8869665 Ash2l ASH2 like, histone lysine methyltransferase complex subunit gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1313775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8869665 Ash2l ASH2 like, histone lysine methyltransferase complex subunit gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1313775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8869665 Ash2l ASH2 like, histone lysine methyltransferase complex subunit gene DOID:5419 schizophrenia ISO RGD:1305632 D RGD:9068941 20200609 RGD PMID:23932495|REF_RGD_ID:9586022 8869665 Ash2l ASH2 like, histone lysine methyltransferase complex subunit gene DOID:607 paraplegia ISO RGD:1313775 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8869665 Ash2l ASH2 like, histone lysine methyltransferase complex subunit gene DOID:630 genetic disease ISO RGD:1313775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869665 Ash2l ASH2 like, histone lysine methyltransferase complex subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1313775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 8869702 Nisch nischarin gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1315855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8869702 Nisch nischarin gene DOID:10754 otitis media ISO RGD:1616802 D RGD:9068941 20220825 MouseDO OMIM:166760 8869702 Nisch nischarin gene DOID:10763 hypertension ISO RGD:1306950 D RGD:9068941 20200609 RGD PMID:12021582|REF_RGD_ID:1581128 8869702 Nisch nischarin gene DOID:6000 congestive heart failure ISO RGD:1315855 D RGD:9068941 20200609 RGD PMID:12021582|REF_RGD_ID:1581128 8869702 Nisch nischarin gene DOID:630 genetic disease ISO RGD:1315855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869702 Nisch nischarin gene DOID:9006024 Hypotension ISO RGD:1315855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11486246|PMID:22613216 8869702 Nisch nischarin gene DOID:9007001 Bradycardia ISO RGD:1315855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11486246 8869702 Nisch nischarin gene DOID:9008939 Breast Neoplasms ISO RGD:1315855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29912916 8869745 Lmo4 LIM domain only 4 gene DOID:0060668 anencephaly ISO RGD:1313838 D RGD:9068941 20220825 MouseDO OMIM:206500 8869745 Lmo4 LIM domain only 4 gene DOID:630 genetic disease ISO RGD:1313837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869764 Fbxl2 F-box and leucine rich repeat protein 2 gene DOID:630 genetic disease ISO RGD:736852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:736749 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:0050476 Barth syndrome ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:736749 D RGD:7240710 20180130 OMIM 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:736749 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: CDG IY | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y PMID:24218363|PMID:25326635|PMID:25741868|PMID:26264460 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:736749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:736749 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:12849 autistic disorder ISO RGD:736749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:13628 favism ISO RGD:736749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:2729 dyskeratosis congenita ISO RGD:736749 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:607 paraplegia ISO RGD:736749 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:630 genetic disease ISO RGD:736749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8869791 Ssr4 signal sequence receptor subunit 4 gene DOID:9002720 Splenomegaly ISO RGD:736749 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8869807 Ranbp17 RAN binding protein 17 gene DOID:0060041 autism spectrum disorder ISO RGD:1345238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 8869807 Ranbp17 RAN binding protein 17 gene DOID:10908 hydrocephalus ISO RGD:1345238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 8869807 Ranbp17 RAN binding protein 17 gene DOID:630 genetic disease ISO RGD:1345238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:0060017 CD3epsilon deficiency ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1602413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:0080690 RASopathy ISO RGD:1602413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:0081330 glycogen storage disease Ib ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:0110651 long QT syndrome 10 ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:0111971 immunodeficiency 18 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:0111972 immunodeficiency 19 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:0111973 immunodeficiency 17 ISO RGD:1602413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:5419 schizophrenia ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:630 genetic disease ISO RGD:1602413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:9007661 Dwarfism ISO RGD:1602413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:9007689 Mosaic Variegated Aneuploidy Syndrome 4 ISO RGD:1602413 D RGD:7240710 20221228 OMIM 8869850 Cenatac centrosomal AT-AC splicing factor gene DOID:9007689 Mosaic Variegated Aneuploidy Syndrome 4 ISO RGD:1602413 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 4 PMID:34009673 8869879 Lamc2 laminin subunit gamma 2 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:1315384 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11231327|PMID:11564184|PMID:11907499|PMID:15373767|PMID:16199547|PMID:16473856|PMID:17916201|PMID:20301304|PMID:25741868|PMID:27696112|PMID:28492532|PMID:31395954|PMID:7849725|PMID:8012114|PMID:8012393|PMID:8012394|PMID:8824879|PMID:8983017|PMID:9085255 8869879 Lamc2 laminin subunit gamma 2 gene DOID:0060738 junctional epidermolysis bullosa non-Herlitz type ISO RGD:1315384 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:11564184|PMID:25741868|PMID:27375110|PMID:28492532 8869879 Lamc2 laminin subunit gamma 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8869879 Lamc2 laminin subunit gamma 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8869879 Lamc2 laminin subunit gamma 2 gene DOID:2187 amelogenesis imperfecta ISO RGD:1315384 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 PMID:25741868|PMID:28492532 8869879 Lamc2 laminin subunit gamma 2 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:1315384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:11231327|PMID:11810295|PMID:11907499|PMID:15370542|PMID:15373767|PMID:15538630|PMID:16473856|PMID:17916201|PMID:21198797|PMID:21801158|PMID:25741868|PMID:26739954|PMID:28492532|PMID:28830826|PMID:31395954|PMID:31980526|PMID:9856849 8869879 Lamc2 laminin subunit gamma 2 gene DOID:3209 junctional epidermolysis bullosa susceptibility ISO RGD:1315384 D RGD:9068941 20200609 RGD DNA:splice-site mutation, deletion-insertion PMID:8012393|REF_RGD_ID:1600210 8869879 Lamc2 laminin subunit gamma 2 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1315384 D RGD:9068941 20200609 RGD PMID:23124251|REF_RGD_ID:13793371 8869879 Lamc2 laminin subunit gamma 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 8869879 Lamc2 laminin subunit gamma 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315384 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:10964684|REF_RGD_ID:13793368 8869879 Lamc2 laminin subunit gamma 2 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315384 D RGD:9068941 20200609 RGD PMID:26180921|REF_RGD_ID:13793367 8869879 Lamc2 laminin subunit gamma 2 gene DOID:5082 liver cirrhosis ISO RGD:1315384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8869879 Lamc2 laminin subunit gamma 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1315384 D RGD:9068941 20200609 RGD DNA:hyper-methylation:promoter: PMID:12855645|REF_RGD_ID:13793369 8869879 Lamc2 laminin subunit gamma 2 gene DOID:630 genetic disease ISO RGD:1315384 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8869879 Lamc2 laminin subunit gamma 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1315384 D RGD:9068941 20200609 RGD associated with lung squamous cell carcinoma; PMID:23124251|REF_RGD_ID:13793371 8869879 Lamc2 laminin subunit gamma 2 gene DOID:9000918 Disease Progression ISO RGD:1315384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 8869879 Lamc2 laminin subunit gamma 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315384 D RGD:9068941 20200609 RGD associated with lung adenocarcinoma; PMID:25591736|REF_RGD_ID:11075980 8869879 Lamc2 laminin subunit gamma 2 gene DOID:9001145 Junctional Epidermolysis Bullosa 1B, Severe ISO RGD:1315384 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE PMID:11907499|PMID:16473856|PMID:25741868|PMID:28492532 8869879 Lamc2 laminin subunit gamma 2 gene DOID:9001267 Junctional Epidermolysis Bullosa 3A, Intermediate ISO RGD:1315384 D RGD:7240710 20220608 OMIM 8869879 Lamc2 laminin subunit gamma 2 gene DOID:9001267 Junctional Epidermolysis Bullosa 3A, Intermediate ISO RGD:1315384 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate PMID:11564184|PMID:11810295|PMID:11907499|PMID:15538630|PMID:16199547|PMID:16473856|PMID:28492532|PMID:28830826 8869879 Lamc2 laminin subunit gamma 2 gene DOID:9001600 Wounds and Injuries ISO RGD:1315384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15541073 8869879 Lamc2 laminin subunit gamma 2 gene DOID:9005152 Junctional Epidermolysis Bullosa 3B, Severe ISO RGD:1315384 D RGD:7240710 20220608 OMIM 8869879 Lamc2 laminin subunit gamma 2 gene DOID:9005152 Junctional Epidermolysis Bullosa 3B, Severe ISO RGD:1315384 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe PMID:10951251|PMID:11810295|PMID:11907499|PMID:15373767|PMID:16473856|PMID:17916201|PMID:20301304|PMID:25741868|PMID:28492532|PMID:7849725|PMID:8012114|PMID:8012393|PMID:8012394|PMID:8824879|PMID:8983017|PMID:9085255 8869879 Lamc2 laminin subunit gamma 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8869879 Lamc2 laminin subunit gamma 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8869911 Tsr2 TSR2 ribosome maturation factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8869911 Tsr2 TSR2 ribosome maturation factor gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1602842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8869911 Tsr2 TSR2 ribosome maturation factor gene DOID:0111824 Aarskog syndrome ISO RGD:1602842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aarskog syndrome PMID:25741868|PMID:28492532 8869911 Tsr2 TSR2 ribosome maturation factor gene DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:11424144|PMID:24942156 8869911 Tsr2 TSR2 ribosome maturation factor gene DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ISO RGD:1602842 D RGD:7240710 20180130 OMIM 8869911 Tsr2 TSR2 ribosome maturation factor gene DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis PMID:11424144|PMID:24942156|PMID:25741868|PMID:28492532 8869911 Tsr2 TSR2 ribosome maturation factor gene DOID:12849 autistic disorder ISO RGD:1602842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8869911 Tsr2 TSR2 ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1602842 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532 8869911 Tsr2 TSR2 ribosome maturation factor gene DOID:6683 X-linked Aarskog syndrome ISO RGD:1602842 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: FGD1-related condition PMID:25741868 8869929 Sun2 Sad1 and UNC84 domain containing 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8869929 Sun2 Sad1 and UNC84 domain containing 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1322098 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8869929 Sun2 Sad1 and UNC84 domain containing 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1322098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8869929 Sun2 Sad1 and UNC84 domain containing 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1322098 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:25741868|PMID:28492532|PMID:9536098 8869929 Sun2 Sad1 and UNC84 domain containing 2 gene DOID:630 genetic disease ISO RGD:1322098 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8869965 Acrbp acrosin binding protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8869965 Acrbp acrosin binding protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8869965 Acrbp acrosin binding protein gene DOID:0111621 Temtamy syndrome ISO RGD:1344974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8869965 Acrbp acrosin binding protein gene DOID:630 genetic disease ISO RGD:1344974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8869965 Acrbp acrosin binding protein gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8869965 Acrbp acrosin binding protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8869965 Acrbp acrosin binding protein gene DOID:9007502 Brain Neoplasms ISO RGD:1344974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of brain 8869965 Acrbp acrosin binding protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8869995 Deup1 deuterosome assembly protein 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1606948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 8869995 Deup1 deuterosome assembly protein 1 gene DOID:1059 intellectual disability ISO RGD:1606948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8869995 Deup1 deuterosome assembly protein 1 gene DOID:3068 glioblastoma ISO RGD:1606948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8869995 Deup1 deuterosome assembly protein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8869995 Deup1 deuterosome assembly protein 1 gene DOID:630 genetic disease ISO RGD:1606948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870031 Serpinb11 serpin family B member 11 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1315147 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8870031 Serpinb11 serpin family B member 11 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1315147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8870031 Serpinb11 serpin family B member 11 gene DOID:630 genetic disease ISO RGD:1315147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:10652 Alzheimer's disease ISO RGD:1321122 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:10763 hypertension ISO RGD:1321122 D RGD:9068941 20200609 RGD PMID:21810655|REF_RGD_ID:8693428 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:12466 secondary hyperparathyroidism ISO RGD:1310299 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:19770516|REF_RGD_ID:8693427 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:12849 autistic disorder ISO RGD:1321121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:2841 asthma ISO RGD:1310299 D RGD:9068941 20200609 RGD PMID:18188456|REF_RGD_ID:8693422 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:2841 asthma ISO RGD:1321122 D RGD:9068941 20200609 RGD PMID:18188456|REF_RGD_ID:8693422 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:630 genetic disease ISO RGD:1321121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9000918 Disease Progression ISO RGD:1321121 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32621833 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9002514 Neointima ISO RGD:1321122 D RGD:9068941 20200609 RGD PMID:20307651|REF_RGD_ID:8693429 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9003936 Cardiomegaly ISO RGD:1321122 D RGD:9068941 20200609 RGD PMID:23487407|REF_RGD_ID:8693424 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9004283 Transplant Rejection ISO RGD:1310299 D RGD:9068941 20200609 RGD PMID:17311089|REF_RGD_ID:8693431 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1310299 D RGD:9068941 20200609 RGD PMID:22064478|REF_RGD_ID:8693420 8870043 Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1321121 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:19671742|PMID:19681904|PMID:32621833 8870052 Snap29 synaptosome associated protein 29 gene DOID:0060337 CEDNIK syndrome ISO RGD:735746 D RGD:7240710 20180130 OMIM 8870052 Snap29 synaptosome associated protein 29 gene DOID:0060337 CEDNIK syndrome ISO RGD:735746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: CEDNIK syndrome PMID:15968592|PMID:19350501|PMID:19896110|PMID:21073448|PMID:23185475|PMID:23231787|PMID:25356970|PMID:25473036|PMID:25741868|PMID:25958742|PMID:26467025|PMID:28388629|PMID:28492532|PMID:31748968|PMID:33422265|PMID:33977139|PMID:35229899 8870052 Snap29 synaptosome associated protein 29 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:735746 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8870052 Snap29 synaptosome associated protein 29 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:735746 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8870052 Snap29 synaptosome associated protein 29 gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 PMID:15968592|PMID:21073448|PMID:25356970|PMID:25741868|PMID:28492532|PMID:31748968|PMID:33977139 8870052 Snap29 synaptosome associated protein 29 gene DOID:1059 intellectual disability ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8870052 Snap29 synaptosome associated protein 29 gene DOID:11198 DiGeorge syndrome ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8870052 Snap29 synaptosome associated protein 29 gene DOID:11372 megacolon ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8870052 Snap29 synaptosome associated protein 29 gene DOID:12583 velocardiofacial syndrome ISO RGD:735746 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8870052 Snap29 synaptosome associated protein 29 gene DOID:12849 autistic disorder ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8870052 Snap29 synaptosome associated protein 29 gene DOID:1826 epilepsy ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8870052 Snap29 synaptosome associated protein 29 gene DOID:5419 schizophrenia ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8870052 Snap29 synaptosome associated protein 29 gene DOID:612 primary immunodeficiency disease ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8870052 Snap29 synaptosome associated protein 29 gene DOID:630 genetic disease ISO RGD:735746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15968592|PMID:21073448|PMID:25356970|PMID:25741868|PMID:28492532|PMID:31748968|PMID:33977139 8870052 Snap29 synaptosome associated protein 29 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8870052 Snap29 synaptosome associated protein 29 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8870073 Slc39a7 solute carrier family 39 member 7 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1344767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8870073 Slc39a7 solute carrier family 39 member 7 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1344767 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8870073 Slc39a7 solute carrier family 39 member 7 gene DOID:0081141 agammaglobulinemia 9 ISO RGD:1344767 D RGD:7240710 20220112 OMIM 8870073 Slc39a7 solute carrier family 39 member 7 gene DOID:0081141 agammaglobulinemia 9 ISO RGD:1344767 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive PMID:25741868|PMID:28492532|PMID:30718914 8870073 Slc39a7 solute carrier family 39 member 7 gene DOID:630 genetic disease ISO RGD:1344767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8870085 Fmc1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:0050439 Usher syndrome ISO RGD:1606950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868 8870085 Fmc1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:0080690 RASopathy ISO RGD:1606950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8870085 Fmc1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:13548 secondary Parkinson disease ISO RGD:1606950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29371327 8870085 Fmc1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8870085 Fmc1 formation of mitochondrial complex V assembly factor 1 homolog gene DOID:9002877 Parkinson's Disease, Mitochondrial ISO RGD:1606950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29371327 8870099 Abtb1 ankyrin repeat and BTB domain containing 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1349137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8870099 Abtb1 ankyrin repeat and BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1349137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870099 Abtb1 ankyrin repeat and BTB domain containing 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8870099 Abtb1 ankyrin repeat and BTB domain containing 1 gene DOID:9270 alkaptonuria ISO RGD:1349137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8870123 Dele1 DAP3 binding cell death enhancer 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8870123 Dele1 DAP3 binding cell death enhancer 1 gene DOID:630 genetic disease ISO RGD:1353765 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870123 Dele1 DAP3 binding cell death enhancer 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8870123 Dele1 DAP3 binding cell death enhancer 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8870140 Daam2 dishevelled associated activator of morphogenesis 2 gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:1314563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A 8870140 Daam2 dishevelled associated activator of morphogenesis 2 gene DOID:0111165 molybdenum cofactor deficiency ISO RGD:1314563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency 8870140 Daam2 dishevelled associated activator of morphogenesis 2 gene DOID:11476 osteoporosis ISO RGD:1314563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30598549 8870140 Daam2 dishevelled associated activator of morphogenesis 2 gene DOID:630 genetic disease ISO RGD:1314563 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8870140 Daam2 dishevelled associated activator of morphogenesis 2 gene DOID:9003441 Nephrotic Syndrome Type 24 ISO RGD:1314563 D RGD:7240710 20210414 OMIM 8870140 Daam2 dishevelled associated activator of morphogenesis 2 gene DOID:9003441 Nephrotic Syndrome Type 24 ISO RGD:1314563 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: DAAM2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 24 PMID:25741868|PMID:33232676 8870173 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:1612 breast cancer severity ISO RGD:734116 D RGD:9068941 20200609 RGD protein:increased expression:breast, cytosol (human) PMID:15448007|REF_RGD_ID:8547748 8870173 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:1793 pancreatic cancer ISO RGD:734116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 8870173 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:2565 macular corneal dystrophy ISO RGD:734116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 8870173 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:3007 breast ductal carcinoma ISO RGD:734116 D RGD:9068941 20200609 RGD PMID:11605729|REF_RGD_ID:1579979 8870173 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8870173 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:607 paraplegia ISO RGD:734116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8870173 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:630 genetic disease ISO RGD:734116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870173 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:9002304 Prostatic Neoplasms ISO RGD:734116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 8870173 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21291860 8870173 Bcar1 BCAR1 scaffold protein, Cas family member gene DOID:9008138 Ductal Carcinoma ISO RGD:734116 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 8870183 Asb12 ankyrin repeat and SOCS box containing 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8870183 Asb12 ankyrin repeat and SOCS box containing 12 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1349928 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:25741868|PMID:9383023 8870183 Asb12 ankyrin repeat and SOCS box containing 12 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1349928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 8870183 Asb12 ankyrin repeat and SOCS box containing 12 gene DOID:12849 autistic disorder ISO RGD:1349928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8870183 Asb12 ankyrin repeat and SOCS box containing 12 gene DOID:630 genetic disease ISO RGD:1349928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:0050589 inflammatory bowel disease ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:0060017 CD3epsilon deficiency ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:0060837 isolated microphthalmia 5 ISO RGD:731000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:731000 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:0080690 RASopathy ISO RGD:731000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:0081330 glycogen storage disease Ib ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:731000 D RGD:7240710 20180130 OMIM 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:731000 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:17277165|PMID:17576681|PMID:19890111|PMID:21519361|PMID:22476154|PMID:22549091|PMID:23158016|PMID:24001973|PMID:24033266|PMID:24216686|PMID:24813381|PMID:24910257|PMID:25373860|PMID:25741868|PMID:26193622|PMID:26822028|PMID:27699570|PMID:27747465|PMID:28267044|PMID:28492532|PMID:28930861|PMID:29140941|PMID:29248579|PMID:29531467|PMID:30212871|PMID:30894704|PMID:33359885|PMID:8490660|PMID:9536098 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:0111123 nephronophthisis 15 ISO RGD:731000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:0111971 immunodeficiency 18 ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:0111972 immunodeficiency 19 ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:0111973 immunodeficiency 17 ISO RGD:731000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:1059 intellectual disability ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:731000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:8778 Crohn's disease ISO RGD:731000 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620138 D RGD:9068941 20200609 RGD PMID:12620647|REF_RGD_ID:2316323 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:9007661 Dwarfism ISO RGD:731000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8870193 Il10ra interleukin 10 receptor subunit alpha gene DOID:9146 visceral leishmaniasis ISO RGD:731000 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15716043 8870204 Cbl Cbl proto-oncogene gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1345184 D RGD:7240710 20190315 OMIM 8870204 Cbl Cbl proto-oncogene gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1345184 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:16199547|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22733026|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24728327|PMID:24803665|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25741868|PMID:25939664|PMID:25952305|PMID:27069254|PMID:27609087|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29296819|PMID:29696744|PMID:31057598|PMID:32933826|PMID:33337535|PMID:9536098 8870204 Cbl Cbl proto-oncogene gene DOID:0060017 CD3epsilon deficiency ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:0060578 Noonan syndrome 1 ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25741868 8870204 Cbl Cbl proto-oncogene gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:0070004 myeloid neoplasm ISO RGD:1345184 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:17446348|PMID:19387008|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20951944|PMID:21828135|PMID:22190897|PMID:22246246|PMID:22733026|PMID:23010802|PMID:23690417|PMID:25178484|PMID:25224413|PMID:25741868|PMID:27069254|PMID:28492532|PMID:29296819|PMID:33318624|PMID:33627783 8870204 Cbl Cbl proto-oncogene gene DOID:0070004 myeloid neoplasm disease_progression ISO RGD:1345184 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:19387008|REF_RGD_ID:11038808 8870204 Cbl Cbl proto-oncogene gene DOID:0070004 myeloid neoplasm disease_progression ISO RGD:1558608 D RGD:9068941 20200609 RGD PMID:20951944|REF_RGD_ID:11038798 8870204 Cbl Cbl proto-oncogene gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy PMID:24033266|PMID:25741868|PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26847329|PMID:27069254|PMID:27784745|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31970404|PMID:32933826|PMID:9536098 8870204 Cbl Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22246246|PMID:22266821|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27854218|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33550024|PMID:33627783|PMID:9536098 8870204 Cbl Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: RASopathy PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22190897|PMID:22246246|PMID:22266821|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27941868|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33550024|PMID:33627783|PMID:9536098 8870204 Cbl Cbl proto-oncogene gene DOID:0080690 RASopathy ISO RGD:1345184 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:14640702|PMID:15581361|PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22190897|PMID:22246246|PMID:22266821|PMID:22315494|PMID:22733026|PMID:22742743|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24493670|PMID:24728327|PMID:24801577|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25426838|PMID:25731833|PMID:25741868|PMID:25952305|PMID:26580448|PMID:26676746|PMID:26847329|PMID:27069254|PMID:27609087|PMID:27784745|PMID:27941868|PMID:28343148|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29177441|PMID:29296819|PMID:29696744|PMID:31057598|PMID:31101757|PMID:31102422|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33550024|PMID:33627783|PMID:9536098 8870204 Cbl Cbl proto-oncogene gene DOID:0110651 long QT syndrome 10 ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:0111971 immunodeficiency 18 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:0111972 immunodeficiency 19 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:0111973 immunodeficiency 17 ISO RGD:1345184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:10907 microcephaly ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8870204 Cbl Cbl proto-oncogene gene DOID:11383 cryptorchidism ISO RGD:1345184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 8870204 Cbl Cbl proto-oncogene gene DOID:12336 male infertility ISO RGD:1345184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16301331 8870204 Cbl Cbl proto-oncogene gene DOID:2155 malignant ovarian germ cell neoplasm ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant germ cell tumor of ovary PMID:16199547|PMID:19571318|PMID:20694012|PMID:20955399|PMID:21901340|PMID:24033266|PMID:25741868|PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:2156 ovarian germ cell cancer ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ovarian germ cell cancer PMID:16199547|PMID:19571318|PMID:20694012|PMID:20955399|PMID:21901340|PMID:24033266|PMID:25741868|PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:224 transient cerebral ischemia treatment ISO RGD:1561386 D RGD:9068941 20200609 RGD PMID:18773943|REF_RGD_ID:4108486 8870204 Cbl Cbl proto-oncogene gene DOID:2531 hematologic cancer ISO RGD:1345184 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hematological malignancies PMID:19571318|PMID:20543203|PMID:20694012|PMID:23696637|PMID:24803665|PMID:25283271|PMID:25741868|PMID:25952305|PMID:28414188|PMID:28492532|PMID:32933826 8870204 Cbl Cbl proto-oncogene gene DOID:3247 rhabdomyosarcoma ISO RGD:1345184 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:17446348|PMID:19387008|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20951944|PMID:21828135|PMID:22190897|PMID:22246246|PMID:22733026|PMID:23010802|PMID:23690417|PMID:25178484|PMID:25224413|PMID:25741868|PMID:27069254|PMID:28492532|PMID:29296819|PMID:33318624|PMID:33627783 8870204 Cbl Cbl proto-oncogene gene DOID:3347 osteosarcoma ISO RGD:1345184 D RGD:9068941 20210521 RGD protein:decreased expression:bone PMID:22623369|REF_RGD_ID:126925238 8870204 Cbl Cbl proto-oncogene gene DOID:3490 Noonan syndrome ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:16199547|PMID:18698078|PMID:19571318|PMID:19620960|PMID:20595524|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20955399|PMID:21901340|PMID:23823657|PMID:24033266|PMID:24458550|PMID:25358541|PMID:25741868|PMID:25952305|PMID:28492532|PMID:28589114 8870204 Cbl Cbl proto-oncogene gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1561386 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression, hypophosphorylation:lung, alveolar epithelium: PMID:23143077|REF_RGD_ID:11038813 8870204 Cbl Cbl proto-oncogene gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345184 D RGD:9068941 20200609 RGD DNA:missense mutations, loss of heterozygosity:multiple (human) PMID:20126411|REF_RGD_ID:11576301 8870204 Cbl Cbl proto-oncogene gene DOID:4195 hyperglycemia ISO RGD:1561386 D RGD:9068941 20200609 RGD mRNA:increased expression:islet of Langerhans (rat) PMID:16644676|REF_RGD_ID:11576321 8870204 Cbl Cbl proto-oncogene gene DOID:5419 schizophrenia ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8870204 Cbl Cbl proto-oncogene gene DOID:6000 congestive heart failure ISO RGD:1345184 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle myocardium, muscle cell (human) PMID:24583314|REF_RGD_ID:11251947 8870204 Cbl Cbl proto-oncogene gene DOID:6000 congestive heart failure disease_progression ISO RGD:1345184 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 8870204 Cbl Cbl proto-oncogene gene DOID:614 lymphopenia onset ISO RGD:1558608 D RGD:9068941 20200609 RGD PMID:20404156|REF_RGD_ID:11038797 8870204 Cbl Cbl proto-oncogene gene DOID:630 genetic disease ISO RGD:1345184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20619386|PMID:20644105|PMID:20694012|PMID:20951944|PMID:21828135|PMID:22733026|PMID:22817890|PMID:23010802|PMID:23690417|PMID:23823657|PMID:24033266|PMID:24458550|PMID:24728327|PMID:24801577|PMID:25224413|PMID:25358541|PMID:25426838|PMID:25741868|PMID:25952305|PMID:26847329|PMID:27069254|PMID:27941868|PMID:28492532|PMID:28589114|PMID:29296819|PMID:31664448|PMID:33550024 8870204 Cbl Cbl proto-oncogene gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1345184 D RGD:9068941 20210521 RGD PMID:26474280|REF_RGD_ID:11536137 8870204 Cbl Cbl proto-oncogene gene DOID:865 vasculitis ISO RGD:1345184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 8870204 Cbl Cbl proto-oncogene gene DOID:9000081 Lymphatic Metastasis ISO RGD:1345184 D RGD:9068941 20210521 RGD associated with stomach carcinoma;protein:increased expression:stomach PMID:31611438|REF_RGD_ID:126925223 8870204 Cbl Cbl proto-oncogene gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 8870204 Cbl Cbl proto-oncogene gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1561386 D RGD:9068941 20210521 RGD mRNA:increased expression:spinal cord PMID:30021515|REF_RGD_ID:126925240 8870204 Cbl Cbl proto-oncogene gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1345184 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:CD5+ B cell: PMID:17804547|REF_RGD_ID:11038803 8870204 Cbl Cbl proto-oncogene gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1345184 D RGD:9068941 20200609 RGD DNA:hypophosphorylation:CD5+ B cell: PMID:17804547|REF_RGD_ID:11038803 8870204 Cbl Cbl proto-oncogene gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1561386 D RGD:9068941 20200609 RGD PMID:16984225|REF_RGD_ID:2306289 8870204 Cbl Cbl proto-oncogene gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:1345184 D RGD:7240710 20180130 OMIM 8870204 Cbl Cbl proto-oncogene gene DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia ISO RGD:1345184 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia PMID:16199547|PMID:17446348|PMID:17576681|PMID:18698078|PMID:19387008|PMID:19571318|PMID:19620960|PMID:19901108|PMID:20543203|PMID:20595524|PMID:20619386|PMID:20694012|PMID:20951944|PMID:20955399|PMID:21828135|PMID:21901340|PMID:22190897|PMID:22246246|PMID:22733026|PMID:23010802|PMID:23690417|PMID:23696637|PMID:23823657|PMID:24033266|PMID:24451042|PMID:24458550|PMID:24463883|PMID:24493670|PMID:24728327|PMID:24803665|PMID:24896146|PMID:25178484|PMID:25224413|PMID:25283271|PMID:25358541|PMID:25731833|PMID:25741868|PMID:25939664|PMID:25952305|PMID:26580448|PMID:26676746|PMID:27069254|PMID:27609087|PMID:27784745|PMID:28343148|PMID:28414188|PMID:28492532|PMID:28589114|PMID:28957739|PMID:29296819|PMID:31101757|PMID:31333075|PMID:31568572|PMID:31664448|PMID:31970404|PMID:32533790|PMID:32933826|PMID:33318624|PMID:33337535|PMID:33550024|PMID:33627783|PMID:9536098 8870204 Cbl Cbl proto-oncogene gene DOID:9003091 Noonan Like Syndrome ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan-like syndrome PMID:19620960|PMID:20951944|PMID:24033266|PMID:25741868|PMID:27069254|PMID:28492532|PMID:29296819 8870204 Cbl Cbl proto-oncogene gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8870204 Cbl Cbl proto-oncogene gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345184 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8870204 Cbl Cbl proto-oncogene gene DOID:9004441 Experimental Leukemia treatment ISO RGD:1558608 D RGD:9068941 20200609 RGD PMID:20890046|REF_RGD_ID:11038805 8870204 Cbl Cbl proto-oncogene gene DOID:9006182 Carotid Artery Injuries ISO RGD:1561386 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:tyrosine: PMID:18663086|REF_RGD_ID:11038825 8870204 Cbl Cbl proto-oncogene gene DOID:9006257 Growth Disorders ISO RGD:1345184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694012 8870204 Cbl Cbl proto-oncogene gene DOID:9006532 Hematologic Neoplasms ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:19571318|PMID:20543203|PMID:20694012|PMID:23696637|PMID:24803665|PMID:25283271|PMID:25741868|PMID:25952305|PMID:28414188|PMID:28492532|PMID:32933826 8870204 Cbl Cbl proto-oncogene gene DOID:9007096 Stroke ISO RGD:1345184 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 8870204 Cbl Cbl proto-oncogene gene DOID:9007661 Dwarfism ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8870204 Cbl Cbl proto-oncogene gene DOID:9007838 Myocardial Reperfusion Injury severity ISO RGD:1558608 D RGD:9068941 20200609 RGD PMID:24583314|REF_RGD_ID:11251947 8870204 Cbl Cbl proto-oncogene gene DOID:9008086 Developmental Disabilities ISO RGD:1345184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8870204 Cbl Cbl proto-oncogene gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1345184 D RGD:9068941 20200609 RGD associated with Myelodysplastic Syndromes;DNA:mutations:exons: PMID:22131879|REF_RGD_ID:11038796 8870204 Cbl Cbl proto-oncogene gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345184 D RGD:9068941 20210521 RGD PMID:30029779|REF_RGD_ID:126925222 8870204 Cbl Cbl proto-oncogene gene DOID:9538 multiple myeloma ISO RGD:1345184 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell: PMID:23948411|REF_RGD_ID:11038794 8870204 Cbl Cbl proto-oncogene gene DOID:9744 type 1 diabetes mellitus ISO RGD:1561386 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic lymph node, mast cell (rat) PMID:17082646|REF_RGD_ID:1598972 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:735610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:735610 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10873396|PMID:14555765|PMID:15249368|PMID:15347646|PMID:16123401|PMID:18055820|PMID:20301475|PMID:22412862|PMID:23737531|PMID:25741868|PMID:26626312|PMID:28492532|PMID:29068479 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:735610 D RGD:7240710 20180130 OMIM 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:735610 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AIPL1-Related Disorders | ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:10873396|PMID:10927016|PMID:11139241|PMID:12573663|PMID:12881340|PMID:14555765|PMID:14611946|PMID:15024725|PMID:15249368|PMID:15347646|PMID:15469903|PMID:16052170|PMID:16123401|PMID:16199547|PMID:16205573|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18408180|PMID:18682808|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20702822|PMID:21474771|PMID:21900377|PMID:22347407|PMID:22412862|PMID:23418749|PMID:23737531|PMID:24093488|PMID:24426771|PMID:25148430|PMID:25356976|PMID:25596619|PMID:25741868|PMID:25799540|PMID:26047050|PMID:26306921|PMID:26626312|PMID:26650897|PMID:27268253|PMID:28041643|PMID:28492532|PMID:28739921|PMID:28973376|PMID:29068479|PMID:29178642|PMID:29641573|PMID:30029497|PMID:30576320|PMID:30718709|PMID:30910914|PMID:31054281|PMID:31360094|PMID:31630094|PMID:31703130|PMID:32483926|PMID:32531858|PMID:32817338|PMID:33067476|PMID:33623043|PMID:33938912|PMID:9536098 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:735610 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:735610 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 2 PMID:10615133|PMID:15249368|PMID:15347646|PMID:25741868|PMID:28492532 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:24426771|PMID:28492532 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:0112232 lissencephaly 3 ISO RGD:735610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation PMID:10873396|PMID:22412862|PMID:25741868|PMID:28492532 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:10584 retinitis pigmentosa ISO RGD:735610 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10873396|PMID:11139241|PMID:12881340|PMID:14611946|PMID:15249368|PMID:15469903|PMID:16052170|PMID:18408180|PMID:18682808|PMID:20301475|PMID:20683928|PMID:22412862|PMID:23737531|PMID:25741868|PMID:28492532|PMID:33938912 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:10584 retinitis pigmentosa ISO RGD:735610 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10615133|PMID:10873396|PMID:11139241|PMID:12881340|PMID:14611946|PMID:15249368|PMID:15347646|PMID:15469903|PMID:16052170|PMID:18408180|PMID:18682808|PMID:20301475|PMID:20683928|PMID:22412862|PMID:23737531|PMID:25741868|PMID:28492532|PMID:33938912 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:733112 D RGD:9068941 20200609 RGD PMID:19710705|REF_RGD_ID:8696011 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:735610 D RGD:9068941 20200609 RGD PMID:19710705|REF_RGD_ID:8696011 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:1432 blindness susceptibility ISO RGD:735610 D RGD:9068941 20200609 RGD PMID:10873396|REF_RGD_ID:1599003 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:735610 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:10615133|PMID:10873396|PMID:15024725|PMID:15249368|PMID:15347646|PMID:17576681|PMID:18408180|PMID:20079931|PMID:20301475|PMID:20702822|PMID:21474771|PMID:22412862|PMID:25596619|PMID:25741868|PMID:25799540|PMID:26306921|PMID:26650897|PMID:27268253|PMID:28041643|PMID:28492532|PMID:28739921|PMID:28973376|PMID:29641573|PMID:30718709|PMID:32531858|PMID:33067476|PMID:9536098 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:14791 Leber congenital amaurosis treatment ISO RGD:735610 D RGD:9068941 20200609 RGD PMID:19710705|REF_RGD_ID:8696011 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:630 genetic disease ISO RGD:735610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:8501 fundus dystrophy ISO RGD:735610 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10615133|PMID:10873396|PMID:15249368|PMID:15347646|PMID:20301475|PMID:21474771|PMID:22412862|PMID:25596619|PMID:25741868|PMID:25799540|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33067476|PMID:33938912 8870228 Aipl1 aryl hydrocarbon receptor interacting protein like 1 gene DOID:9008296 Eye Abnormalities ISO RGD:735610 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0060074 ductal carcinoma in situ severity ISO RGD:1350530 D RGD:9068941 20200609 RGD protein:increased activity:breast PMID:17060931|REF_RGD_ID:2315078 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0060180 colitis ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17551092 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0080199 colorectal carcinoma severity ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:11443610|REF_RGD_ID:150521545 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0080855 Parkinsonism ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:16529858|REF_RGD_ID:1581410 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18385429 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10003 sensorineural hearing loss treatment IMP D RGD:11554193|PMID:24472721 20161021 RGD 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:1350530 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:prostate gland, membrane PMID:19447874|REF_RGD_ID:2315077 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10534 stomach cancer treatment ISO RGD:1350530 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:10763 hypertension ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:16157790|REF_RGD_ID:1601372 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:11054 urinary bladder cancer ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11723127|PMID:17093206 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:1350530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:9988270 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1520 colon carcinoma ISO RGD:1350530 D RGD:9068941 20211112 RGD protein:increased phosphorylating activity:colon mucosa PMID:2436227|REF_RGD_ID:150521541 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1824 status epilepticus ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16600505 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1824 status epilepticus ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:16600505|REF_RGD_ID:1581409 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:1928 Williams-Beuren syndrome ISO RGD:733401 D RGD:9068941 20220825 MouseDO OMIM:194050 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:219 colon cancer ISO RGD:1350530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer, advanced PMID:25157968|PMID:9988270 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:219 colon cancer disease_progression ISO RGD:1350530 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:9988270|REF_RGD_ID:1601371 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:219 colon cancer disease_progression ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:7678609|REF_RGD_ID:150521542 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:2234 focal epilepsy ISO RGD:1350530 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:2316 brain ischemia ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:15854740|REF_RGD_ID:1581411 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:21282564|REF_RGD_ID:150520218 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:12826049|REF_RGD_ID:150521546 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma severity ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:12826049|REF_RGD_ID:150521546 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:4971 myelofibrosis ISO RGD:1350530 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis PMID:25741868|PMID:26936507|PMID:32581362 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:5742 pancreatic acinar cell adenocarcinoma disease_progression ISO RGD:620795 D RGD:9068941 20211126 RGD PMID:8569183|REF_RGD_ID:150523792 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1350530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1350530 D RGD:9068941 20211112 RGD PMID:9581679|REF_RGD_ID:150521543 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:620795 D RGD:9068941 20211112 RGD PMID:9581679|REF_RGD_ID:150521543 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with colon adenocarcinoma, PMID:21282564|REF_RGD_ID:150520218 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with colorectal carcinoma;protein:increased activity:colorectum: PMID:7687314|REF_RGD_ID:150521537 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:733401 D RGD:9068941 20200609 RGD PMID:15486073|REF_RGD_ID:1581401 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9002910 Hearing Loss, Noise-Induced treatment IDA D RGD:11554196|PMID:21840347 20161024 RGD 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569062 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9003936 Cardiomegaly ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18194989 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9004009 Reperfusion Injury ISO RGD:620795 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus CA1 (rat) PMID:20197063|REF_RGD_ID:2325012 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18844224|PMID:21291860 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9004763 Trauma and Stressor Related Disorders disease_progression ISO RGD:620795 D RGD:9068941 20220428 RGD PMID:22078298|REF_RGD_ID:152023731 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9005009 Thrombocytopenia 6 ISO RGD:1350530 D RGD:7240710 20190315 OMIM 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9005009 Thrombocytopenia 6 ISO RGD:1350530 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 6 PMID:25741868|PMID:26936507|PMID:32581362 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9005968 Neuralgia treatment ISO RGD:620795 D RGD:9068941 20211119 RGD PMID:33746000|REF_RGD_ID:150521727 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:12819032|REF_RGD_ID:1580850 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9006618 Liver Metastasis disease_progression ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with colon cancer;protein:increased activity:colon PMID:7678609|REF_RGD_ID:150521542 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9007096 Stroke ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:19741150|REF_RGD_ID:2315083 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1350530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350530 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1350530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357651 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1350530 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:19830888|REF_RGD_ID:2315076 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9009121 lung metastasis ameliorates ISO RGD:1350530 D RGD:9068941 20211119 RGD associated with nasopharynx carcinoma; PMID:27078847|REF_RGD_ID:150521726 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9009121 lung metastasis treatment ISO RGD:1350530 D RGD:9068941 20211112 RGD associated with breast cancer; PMID:15753384|REF_RGD_ID:1581400 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:1350530 D RGD:7240710 20200226 OMIM 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1350530 D RGD:9068941 20211119 RGD PMID:27078847|REF_RGD_ID:150521726 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350530 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:platelets PMID:15542065|REF_RGD_ID:1601373 8870238 Src SRC proto-oncogene, non-receptor tyrosine kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:620795 D RGD:9068941 20200609 RGD PMID:19230846|REF_RGD_ID:2307340 8870257 Slc25a42 solute carrier family 25 member 42 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1604178 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 8870257 Slc25a42 solute carrier family 25 member 42 gene DOID:630 genetic disease ISO RGD:1604178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8870257 Slc25a42 solute carrier family 25 member 42 gene DOID:699 mitochondrial myopathy ISO RGD:1604178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25741868|PMID:26541337|PMID:29327420|PMID:29923093|PMID:30237576 8870257 Slc25a42 solute carrier family 25 member 42 gene DOID:9007390 Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression ISO RGD:1604178 D RGD:7240710 20190612 OMIM 8870257 Slc25a42 solute carrier family 25 member 42 gene DOID:9007390 Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression ISO RGD:1604178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression PMID:25741868|PMID:26541337|PMID:29327420|PMID:29923093|PMID:30237576 8870257 Slc25a42 solute carrier family 25 member 42 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1604178 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8870275 Snrnp40 small nuclear ribonucleoprotein U5 subunit 40 gene DOID:630 genetic disease ISO RGD:1606327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870296 Ddx10 DEAD-box helicase 10 gene DOID:1059 intellectual disability ISO RGD:1319083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8870296 Ddx10 DEAD-box helicase 10 gene DOID:12704 ataxia telangiectasia ISO RGD:1319083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8870296 Ddx10 DEAD-box helicase 10 gene DOID:630 genetic disease ISO RGD:1319083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870296 Ddx10 DEAD-box helicase 10 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8870296 Ddx10 DEAD-box helicase 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319083 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 8870318 Zdhhc19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1346417 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8870318 Zdhhc19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:12849 autistic disorder ISO RGD:1346417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8870318 Zdhhc19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:5419 schizophrenia ISO RGD:1346417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8870318 Zdhhc19 zinc finger DHHC-type palmitoyltransferase 19 gene DOID:630 genetic disease ISO RGD:1346417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870339 Gyg2 glycogenin 2 gene DOID:12849 autistic disorder ISO RGD:1344312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8870339 Gyg2 glycogenin 2 gene DOID:630 genetic disease ISO RGD:1344312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8870339 Gyg2 glycogenin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8870365 Larp4b La ribonucleoprotein 4B gene DOID:2661 myoepithelioma ISO RGD:1321780 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8870365 Larp4b La ribonucleoprotein 4B gene DOID:630 genetic disease ISO RGD:1321780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870365 Larp4b La ribonucleoprotein 4B gene DOID:9005539 Familial Prostate Cancer ISO RGD:1321780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8870401 Srsf7 serine and arginine rich splicing factor 7 gene DOID:0080690 RASopathy ISO RGD:1316615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8870401 Srsf7 serine and arginine rich splicing factor 7 gene DOID:3883 Lynch syndrome ISO RGD:1316615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8870401 Srsf7 serine and arginine rich splicing factor 7 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1316615 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 8870401 Srsf7 serine and arginine rich splicing factor 7 gene DOID:630 genetic disease ISO RGD:1316615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870401 Srsf7 serine and arginine rich splicing factor 7 gene DOID:9002179 Glomerular Hyperfiltration ISO RGD:1316616 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:10432394|REF_RGD_ID:1299473 8870424 Tmem80 transmembrane protein 80 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8870424 Tmem80 transmembrane protein 80 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1603868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8870424 Tmem80 transmembrane protein 80 gene DOID:0080773 delta beta-thalassemia ISO RGD:1603868 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8870424 Tmem80 transmembrane protein 80 gene DOID:0111969 immunodeficiency 39 ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8870424 Tmem80 transmembrane protein 80 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8870424 Tmem80 transmembrane protein 80 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8870424 Tmem80 transmembrane protein 80 gene DOID:630 genetic disease ISO RGD:1603868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870424 Tmem80 transmembrane protein 80 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1603868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8870438 Polr1g RNA polymerase I subunit G gene DOID:0080914 cerebrooculofacioskeletal syndrome 4 ISO RGD:1606023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 PMID:25741868|PMID:28492532|PMID:33116287 8870438 Polr1g RNA polymerase I subunit G gene DOID:630 genetic disease ISO RGD:1606023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870438 Polr1g RNA polymerase I subunit G gene DOID:9538 multiple myeloma sexual_dimorphism ISO RGD:1606023 D RGD:9068941 20230928 RGD DNA:SNP:exon 1: p.G-21A (rs967591) (human) PMID:17131345|REF_RGD_ID:401827277 8870465 Ncbp2 nuclear cap binding protein subunit 2 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1313360 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8870465 Ncbp2 nuclear cap binding protein subunit 2 gene DOID:12849 autistic disorder ISO RGD:1313360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8870465 Ncbp2 nuclear cap binding protein subunit 2 gene DOID:5419 schizophrenia ISO RGD:1313360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8870465 Ncbp2 nuclear cap binding protein subunit 2 gene DOID:630 genetic disease ISO RGD:1313360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870492 Fcf1 FCF1 rRNA-processing protein gene DOID:1059 intellectual disability ISO RGD:1322068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8870492 Fcf1 FCF1 rRNA-processing protein gene DOID:630 genetic disease ISO RGD:1322068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870546 Atxn7 ataxin 7 gene DOID:0050958 spinocerebellar ataxia type 7 ISO RGD:1350255 D RGD:7240710 20180425 OMIM 8870546 Atxn7 ataxin 7 gene DOID:0050958 spinocerebellar ataxia type 7 ISO RGD:1350255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 7 PMID:25741868 8870546 Atxn7 ataxin 7 gene DOID:37 skin disease ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8870546 Atxn7 ataxin 7 gene DOID:480 movement disease ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 8870546 Atxn7 ataxin 7 gene DOID:630 genetic disease ISO RGD:1350255 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8870546 Atxn7 ataxin 7 gene DOID:9000343 Vision Disorders ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 8870546 Atxn7 ataxin 7 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 8870546 Atxn7 ataxin 7 gene DOID:9002563 Gait Ataxia ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 8870546 Atxn7 ataxin 7 gene DOID:9005219 Abnormal Reflexes ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25664129 8870546 Atxn7 ataxin 7 gene DOID:9007964 Arsenic Poisoning ISO RGD:1350255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:10763 hypertension ISO RGD:3195 D RGD:9068941 20200609 RGD DNA:repeat:promoter: (rat) PMID:12511524|REF_RGD_ID:628585 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:10763 hypertension ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:5199 ureteral obstruction ISO RGD:11007 D RGD:9068941 20200609 RGD PMID:19223006|REF_RGD_ID:7247722 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:557 kidney disease ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:5812 MHC class II deficiency ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:732882 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.M341I (human) PMID:14646971|REF_RGD_ID:1580174 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:6000 congestive heart failure ISO RGD:11007 D RGD:9068941 20200609 RGD associated with Hypertension PMID:9405681|REF_RGD_ID:737701 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:6000 congestive heart failure ISO RGD:11007 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17264312|REF_RGD_ID:7247730 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:6000 congestive heart failure ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:630 genetic disease ISO RGD:732882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:9000641 Pain ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27687165 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:9000784 Fibrosis ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:9003936 Cardiomegaly ISO RGD:11007 D RGD:9068941 20200609 RGD associated with Hypertension PMID:9405681|REF_RGD_ID:737701 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:9003936 Cardiomegaly ISO RGD:732882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20881240 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:9004080 Aortic Rupture ISO RGD:11007 D RGD:9068941 20200609 RGD associated with Hypertension PMID:9405681|REF_RGD_ID:737701 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3195 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:16272201|REF_RGD_ID:1580154 8870591 Npr1 natriuretic peptide receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8870629 Mapk10 mitogen-activated protein kinase 10 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:733441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly and epileptic encephalopathy PMID:16249883 8870629 Mapk10 mitogen-activated protein kinase 10 gene DOID:10283 prostate cancer ISO RGD:733441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8870629 Mapk10 mitogen-activated protein kinase 10 gene DOID:10652 Alzheimer's disease ISO RGD:733441 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:11208906|REF_RGD_ID:10412676 8870629 Mapk10 mitogen-activated protein kinase 10 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:733441 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs2589506) (human) 8870629 Mapk10 mitogen-activated protein kinase 10 gene DOID:6000 congestive heart failure ISO RGD:733441 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8870629 Mapk10 mitogen-activated protein kinase 10 gene DOID:630 genetic disease ISO RGD:733441 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870629 Mapk10 mitogen-activated protein kinase 10 gene DOID:9001793 Generalized Epilepsy ISO RGD:733441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 8870678 Psma1 proteasome 20S subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:733996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8870678 Psma1 proteasome 20S subunit alpha 1 gene DOID:630 genetic disease ISO RGD:733996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870692 Znf710 zinc finger protein 710 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8870692 Znf710 zinc finger protein 710 gene DOID:2717 Bloom syndrome ISO RGD:1606391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8870692 Znf710 zinc finger protein 710 gene DOID:630 genetic disease ISO RGD:1606391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870692 Znf710 zinc finger protein 710 gene DOID:9256 colorectal cancer ISO RGD:1606391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8870709 LOC102023759 chromosome unknown open reading frame, human C6orf15 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1348540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8870709 LOC102023759 chromosome unknown open reading frame, human C6orf15 gene DOID:0070520 peeling skin syndrome 1 ISO RGD:1348540 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:31690835 8870709 LOC102023759 chromosome unknown open reading frame, human C6orf15 gene DOID:11372 megacolon ISO RGD:1348540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8870709 LOC102023759 chromosome unknown open reading frame, human C6orf15 gene DOID:630 genetic disease ISO RGD:1348540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870715 G3bp1 G3BP stress granule assembly factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8870715 G3bp1 G3BP stress granule assembly factor 1 gene DOID:3069 malignant astrocytoma ISO RGD:1604397 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 8870715 G3bp1 G3BP stress granule assembly factor 1 gene DOID:630 genetic disease ISO RGD:1604397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870715 G3bp1 G3BP stress granule assembly factor 1 gene DOID:9000918 Disease Progression ISO RGD:1604397 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27106762 8870715 G3bp1 G3BP stress granule assembly factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8870715 G3bp1 G3BP stress granule assembly factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8870751 Gpc2 glypican 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8870751 Gpc2 glypican 2 gene DOID:630 genetic disease ISO RGD:731703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050453 lissencephaly ISO RGD:1351274 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:16199547|PMID:23603762|PMID:25140959|PMID:25326635|PMID:25609763|PMID:25741868|PMID:28135719|PMID:28196890|PMID:28492532|PMID:29671837|PMID:33818783|PMID:36175372 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25741868 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10862709|PMID:23664119|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25741868|PMID:26100331|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532|PMID:30504930 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0060160 childhood spinal muscular atrophy ISO RGD:1351274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:7240710 20180130 OMIM 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 PMID:10862709|PMID:17576681|PMID:18414213|PMID:21076407|PMID:22368300|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:25140959|PMID:25326635|PMID:25326637|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25700176|PMID:25741868|PMID:25741869|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28135719|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29314763|PMID:29671837|PMID:29706646|PMID:30687093|PMID:32238909|PMID:9536098 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070043 autosomal dominant intellectual developmental disorder 13 ISO RGD:1351274 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13 PMID:10862709|PMID:17576681|PMID:18414213|PMID:21076407|PMID:22368300|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:25140959|PMID:25326635|PMID:25326637|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25590979|PMID:25609763|PMID:25700176|PMID:25741868|PMID:25741869|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26467025|PMID:27331017|PMID:27549087|PMID:27754416|PMID:28135719|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29286531|PMID:29314763|PMID:29671837|PMID:29706646|PMID:30369941|PMID:30687093|PMID:32238909|PMID:32656949|PMID:35099838|PMID:9536098 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070348 spinal muscular atrophy with predominant lower extremity ISO RGD:1351274 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance PMID:23664120|PMID:25512093|PMID:25609763|PMID:25741868|PMID:26100331|PMID:27066557|PMID:28492532|PMID:29671837|PMID:32788638|PMID:36175372 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070351 spinal muscular atrophy with predominant lower extremity 1 ISO RGD:1351274 D RGD:7240710 20180704 OMIM 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0070351 spinal muscular atrophy with predominant lower extremity 1 ISO RGD:1351274 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant PMID:10862709|PMID:12730604|PMID:17576681|PMID:18414213|PMID:20697106|PMID:21102439|PMID:21820100|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:24033266|PMID:25326635|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26846447|PMID:27331017|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29314763|PMID:29379136|PMID:30122514|PMID:30168217|PMID:30687093|PMID:31364990|PMID:31618753|PMID:32656949|PMID:9536098 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0080000 muscular disease ISO RGD:1351274 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:25741868|PMID:26392352|PMID:26633542|PMID:28492532|PMID:30122514 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0080067 Charcot-Marie-Tooth disease type 5 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 5 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1351274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351274 D RGD:7240710 20180130 OMIM 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1351274 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:10862709|PMID:12730604|PMID:15826937|PMID:16199547|PMID:16519653|PMID:17576681|PMID:18414213|PMID:19074350|PMID:20301532|PMID:20697106|PMID:21076407|PMID:21102439|PMID:21820100|PMID:22368300|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:23664120|PMID:24033266|PMID:24136616|PMID:24307404|PMID:25025039|PMID:25140959|PMID:25326635|PMID:25363760|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25590979|PMID:25609763|PMID:25635128|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26395554|PMID:26467025|PMID:26633542|PMID:26795593|PMID:26846447|PMID:27066557|PMID:27331017|PMID:27549087|PMID:27754416|PMID:28135719|PMID:28193117|PMID:28196890|PMID:28263302|PMID:28325891|PMID:28492532|PMID:28554332|PMID:28554554|PMID:28602352|PMID:28783747|PMID:29243232|PMID:29286531|PMID:29314763|PMID:29379136|PMID:29653220|PMID:29671837|PMID:30031633|PMID:30122514|PMID:30168217|PMID:30504930|PMID:30687093|PMID:31127727|PMID:31164858|PMID:31278258|PMID:31364990|PMID:31372974|PMID:31618753|PMID:31680123|PMID:32238909|PMID:32376792|PMID:32397312|PMID:32656949|PMID:32788638|PMID:32947049|PMID:35099838|PMID:9536098|PMID:9781046 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant PMID:12730604|PMID:20697106|PMID:21102439|PMID:22459677|PMID:23664120|PMID:25326635|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25609763|PMID:25741868|PMID:26100331|PMID:27066557|PMID:27549087|PMID:28492532|PMID:28554554|PMID:29671837|PMID:32788638 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25635128 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23603762|PMID:25741868|PMID:26100331|PMID:26392352|PMID:26467025|PMID:28166811|PMID:28196890|PMID:28492532|PMID:29671837 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:23603762|PMID:25741868|PMID:26100331|PMID:26467025|PMID:28196890|PMID:28492532|PMID:29671837|PMID:31164858 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:17576681|PMID:18414213|PMID:21820100|PMID:22847149|PMID:24033266|PMID:24136616|PMID:25025039|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26467025|PMID:28492532|PMID:29379136|PMID:30504930|PMID:9536098 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10652 Alzheimer's disease ISO RGD:1351274 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:9402150|REF_RGD_ID:13207349 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:10907 microcephaly ISO RGD:1351274 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy PMID:25512093|PMID:28492532 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1389 polyneuropathy ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:28492532 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1351274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:17576681|PMID:18414213|PMID:24033266|PMID:24136616|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26467025|PMID:27066557|PMID:28492532|PMID:30031633|PMID:30504930|PMID:9536098 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:1826 epilepsy ISO RGD:1351274 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Seizure PMID:23603762|PMID:28196890|PMID:28492532|PMID:29671837|PMID:33818783 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:10862709|PMID:23664119|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25741868|PMID:26100331|PMID:27549087|PMID:28196890|PMID:28492532|PMID:28554554 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1351274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:423 myopathy ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:26392352|PMID:26633542|PMID:28492532|PMID:30122514 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:574 peripheral nervous system disease ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:630 genetic disease ISO RGD:1351274 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10862709|PMID:11250194|PMID:15826937|PMID:16519653|PMID:17576681|PMID:18414213|PMID:18466635|PMID:19074350|PMID:21076407|PMID:21820100|PMID:22368300|PMID:22398446|PMID:22426545|PMID:22459677|PMID:22847149|PMID:23603762|PMID:23664119|PMID:24033266|PMID:24136616|PMID:24307404|PMID:25363760|PMID:25417161|PMID:25470043|PMID:25484024|PMID:25497877|PMID:25512093|PMID:25533962|PMID:25590979|PMID:25609763|PMID:25700176|PMID:25741868|PMID:26100331|PMID:26344056|PMID:26378787|PMID:26392352|PMID:26395554|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27066557|PMID:27331017|PMID:27549087|PMID:27754416|PMID:28193117|PMID:28196890|PMID:28263302|PMID:28325891|PMID:28492532|PMID:28554554|PMID:28602352|PMID:29243232|PMID:29286531|PMID:29314763|PMID:29653220|PMID:30031633|PMID:301071|PMID:30122514|PMID:31164858|PMID:31372974|PMID:32238909|PMID:32376792|PMID:35099838|PMID:9536098|PMID:9781046 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:870 neuropathy ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1351274 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1351274 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:18414213|PMID:24033266|PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9005532 Muscle Weakness ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive muscle weakness PMID:25741868|PMID:28492532|PMID:32656949 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1351274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25590979|PMID:25741868|PMID:27754416|PMID:28492532|PMID:29286531 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:9008305 Talipes Cavus ISO RGD:1351274 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:25741868|PMID:26392352|PMID:26633542|PMID:28492532|PMID:30122514 8870766 Dync1h1 dynein cytoplasmic 1 heavy chain 1 gene DOID:913 atrophic muscular disease ISO RGD:1351274 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Distal lower limb amyotrophy PMID:25741868|PMID:26392352|PMID:26633542|PMID:28492532|PMID:30122514 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110714 congenital stationary night blindness 1G ISO RGD:1312271 D RGD:7240710 20180130 OMIM 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110714 congenital stationary night blindness 1G ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1G PMID:11095744|PMID:22190596|PMID:25741868|PMID:26472407|PMID:27624628|PMID:28492532|PMID:31736247 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110715 congenital stationary night blindness autosomal dominant 3 ISO RGD:1312271 D RGD:7240710 20180130 OMIM 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:0110715 congenital stationary night blindness autosomal dominant 3 ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 3 PMID:11095744|PMID:17584859|PMID:25741868|PMID:26472407|PMID:27624628|PMID:28492532|PMID:31736247|PMID:8673138 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1312271 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709|PMID:34906470 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:630 genetic disease ISO RGD:1312271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:8499 night blindness ISO RGD:1312271 D RGD:9068941 20200609 RGD PMID:8673138|REF_RGD_ID:1599006 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:8501 fundus dystrophy ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1312271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1304683 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:15939031|REF_RGD_ID:1600001 8870848 Gnat1 G protein subunit alpha transducin 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312271 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8870865 Btrc beta-transducin repeat containing E3 ubiquitin protein ligase gene DOID:0090020 split hand-foot malformation ISO RGD:1347748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:21681106 8870865 Btrc beta-transducin repeat containing E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1347748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8870892 Aktip AKT interacting protein gene DOID:630 genetic disease ISO RGD:1322487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870892 Aktip AKT interacting protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8870917 Atrn attractin gene DOID:0090103 Huntington's disease-like 1 ISO RGD:69117 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8870917 Atrn attractin gene DOID:12849 autistic disorder ISO RGD:69117 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8870917 Atrn attractin gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:69117 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8870917 Atrn attractin gene DOID:630 genetic disease ISO RGD:69117 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8870917 Atrn attractin gene DOID:9000495 Tremor ISO RGD:69063 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:12379762|REF_RGD_ID:1299186 8870917 Atrn attractin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8870917 Atrn attractin gene DOID:9002955 Nerve Degeneration ISO RGD:69117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16860906 8870917 Atrn attractin gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:69117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8870917 Atrn attractin gene DOID:9970 obesity ISO RGD:69118 D RGD:9068941 20200609 RGD PMID:10086355|REF_RGD_ID:734623 8870957 Krbox4 KRAB box domain containing 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8870957 Krbox4 KRAB box domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1601992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8870957 Krbox4 KRAB box domain containing 4 gene DOID:630 genetic disease ISO RGD:1601992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870957 Krbox4 KRAB box domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8870957 Krbox4 KRAB box domain containing 4 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1601992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 8870975 Sesn3 sestrin 3 gene DOID:1059 intellectual disability ISO RGD:1319828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8870975 Sesn3 sestrin 3 gene DOID:12704 ataxia telangiectasia ISO RGD:1319828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8870975 Sesn3 sestrin 3 gene DOID:630 genetic disease ISO RGD:1319828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8870975 Sesn3 sestrin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8871000 Nckap5 NCK associated protein 5 gene DOID:13938 amenorrhea ISO RGD:1625092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8871000 Nckap5 NCK associated protein 5 gene DOID:576 proteinuria ISO RGD:1564507 D RGD:9068941 20200609 RGD PMID:21257920|REF_RGD_ID:12798539 8871000 Nckap5 NCK associated protein 5 gene DOID:630 genetic disease ISO RGD:1625092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871021 Ankrd30a ankyrin repeat domain 30A gene DOID:630 genetic disease ISO RGD:1350593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871021 Ankrd30a ankyrin repeat domain 30A gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 8871023 Dsel dermatan sulfate epimerase like gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1317082 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8871023 Dsel dermatan sulfate epimerase like gene DOID:630 genetic disease ISO RGD:1317082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871023 Dsel dermatan sulfate epimerase like gene DOID:8445 intestinal volvulus ISO RGD:1317082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8871023 Dsel dermatan sulfate epimerase like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8871023 Dsel dermatan sulfate epimerase like gene DOID:9008419 Volvulus Of Midgut ISO RGD:1317082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8871029 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:15744041|PMID:16199547|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:25741868|PMID:26400421|PMID:26467025|PMID:26957070|PMID:28492532|PMID:28902413|PMID:32376792|PMID:9536098 8871029 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732078 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:15744041|PMID:16199547|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:25741868|PMID:26467025|PMID:26957070|PMID:28492532|PMID:28902413|PMID:32376792|PMID:9536098 8871029 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:15744041|PMID:16199547|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:20301641|PMID:25741868|PMID:26400421|PMID:26467025|PMID:26957070|PMID:28492532|PMID:28847448|PMID:28902413|PMID:31152969|PMID:32376792|PMID:9536098 8871029 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:732078 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:27066507|PMID:28492532 8871029 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0110192 Charcot-Marie-Tooth disease type 4H ISO RGD:732078 D RGD:7240710 20180130 OMIM 8871029 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:0110192 Charcot-Marie-Tooth disease type 4H ISO RGD:732078 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4H PMID:15744041|PMID:17564959|PMID:17564972|PMID:17576681|PMID:19221294|PMID:19332693|PMID:20301641|PMID:22734899|PMID:23466821|PMID:23550889|PMID:24078732|PMID:25231362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:9536098 8871029 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15744041|PMID:17564959|PMID:17564972|PMID:19332693|PMID:20301641|PMID:22734899|PMID:23466821|PMID:23550889|PMID:24078732|PMID:25231362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 8871029 Fgd4 FYVE, RhoGEF and PH domain containing 4 gene DOID:630 genetic disease ISO RGD:732078 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 8871064 Klrg1 killer cell lectin like receptor G1 gene DOID:0080600 COVID-19 ISO RGD:737284 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8871064 Klrg1 killer cell lectin like receptor G1 gene DOID:10652 Alzheimer's disease ISO RGD:737284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALPHA-2-MACROGLOBULIN POLYMORPHISM PMID:1370808|PMID:15023809|PMID:1717945|PMID:24033266|PMID:9697696|PMID:9811940 8871064 Klrg1 killer cell lectin like receptor G1 gene DOID:11372 megacolon ISO RGD:737284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8871064 Klrg1 killer cell lectin like receptor G1 gene DOID:630 genetic disease ISO RGD:737284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871064 Klrg1 killer cell lectin like receptor G1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8871078 Bet1l Bet1 golgi vesicular membrane trafficking protein like gene DOID:13223 uterine fibroid ISO RGD:1602713 D RGD:9068941 20200609 RGD DNA:SNP:rs2280543(human) PMID:23892540|REF_RGD_ID:14394614 8871078 Bet1l Bet1 golgi vesicular membrane trafficking protein like gene DOID:2870 endometrial adenocarcinoma disease_progression ISO RGD:1602713 D RGD:9068941 20200609 RGD PMID:28654152|REF_RGD_ID:14394612 8871078 Bet1l Bet1 golgi vesicular membrane trafficking protein like gene DOID:630 genetic disease ISO RGD:1602713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871086 Hs3st5 heparan sulfate-glucosamine 3-sulfotransferase 5 gene DOID:0060163 body dysmorphic disorder ISO RGD:1314962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8871086 Hs3st5 heparan sulfate-glucosamine 3-sulfotransferase 5 gene DOID:1909 melanoma ISO RGD:1314962 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8871086 Hs3st5 heparan sulfate-glucosamine 3-sulfotransferase 5 gene DOID:630 genetic disease ISO RGD:1314962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871103 Nfyc nuclear transcription factor Y subunit gamma gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8871103 Nfyc nuclear transcription factor Y subunit gamma gene DOID:630 genetic disease ISO RGD:731843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0080488 mucolipidosis ISO RGD:1319026 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:15523648|PMID:16287144|PMID:16645217|PMID:17384215|PMID:19815695|PMID:23555759|PMID:24033266|PMID:25741868|PMID:28492532 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319026 D RGD:7240710 20190227 OMIM 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1319026 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mucolipidosis type 4 | ClinVar Annotator: match by term: Mucolipidosis type IV PMID:10441585|PMID:10973263|PMID:11013137|PMID:11030752|PMID:11317355|PMID:11551108|PMID:11845410|PMID:12125810|PMID:12182165|PMID:14749347|PMID:15178326|PMID:15523648|PMID:16199547|PMID:16257972|PMID:16287144|PMID:16645217|PMID:16978393|PMID:17239335|PMID:17306511|PMID:17384215|PMID:17576681|PMID:18326692|PMID:18794901|PMID:19815695|PMID:20159435|PMID:21763169|PMID:22268962|PMID:22281206|PMID:23555759|PMID:23685283|PMID:24033266|PMID:25119295|PMID:25465891|PMID:25741868|PMID:25933391|PMID:26467025|PMID:27670435|PMID:28112729|PMID:28492532|PMID:28604674|PMID:28936784|PMID:29019983|PMID:30120981|PMID:31578829|PMID:31618753|PMID:31623504|PMID:31899079|PMID:32214227|PMID:32860008|PMID:33454187|PMID:33963976|PMID:35425852|PMID:36344503|PMID:37972748|PMID:9536098 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:25741868|PMID:26467025|PMID:28492532 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1319026 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome PMID:25741868|PMID:26467025|PMID:28492532 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:1059 intellectual disability ISO RGD:1319026 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:11030752|PMID:11317355|PMID:16199547|PMID:28492532|PMID:31623504 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1319026 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:11030752|PMID:11317355|PMID:16199547|PMID:28492532|PMID:31623504 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:25741868|PMID:26467025|PMID:28492532 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:3343 glycoproteinosis ISO RGD:1319026 D RGD:9068941 20200609 RGD PMID:10973263|REF_RGD_ID:1599926 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:630 genetic disease ISO RGD:1319026 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973263|PMID:11030752|PMID:11317355|PMID:14749347|PMID:15178326|PMID:16978393|PMID:17239335|PMID:17576681|PMID:18326692|PMID:18794901|PMID:21763169|PMID:25119295|PMID:25741868|PMID:25933391|PMID:27670435|PMID:28492532|PMID:31618753|PMID:31899079|PMID:37972748|PMID:9536098 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:9006257 Growth Disorders ISO RGD:1319026 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:11030752|PMID:11317355|PMID:16199547|PMID:28492532|PMID:31623504 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1319026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8871117 Mcoln1 mucolipin TRP cation channel 1 gene DOID:9008606 Corneal Opacity ISO RGD:1319026 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Corneal opacity PMID:11030752|PMID:11317355|PMID:16199547|PMID:28492532|PMID:31623504 8871136 Zbtb12 zinc finger and BTB domain containing 12 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1342499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8871136 Zbtb12 zinc finger and BTB domain containing 12 gene DOID:630 genetic disease ISO RGD:1342499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871146 Bid BH3 interacting domain death agonist gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:620160 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 8871146 Bid BH3 interacting domain death agonist gene DOID:0111996 immunodeficiency 51 ISO RGD:1346183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8871146 Bid BH3 interacting domain death agonist gene DOID:11650 bronchopulmonary dysplasia ISO RGD:620160 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 8871146 Bid BH3 interacting domain death agonist gene DOID:1793 pancreatic cancer ISO RGD:1346183 D RGD:9068941 20200609 RGD PMID:15943879|REF_RGD_ID:2317560 8871146 Bid BH3 interacting domain death agonist gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732539 D RGD:9068941 20200609 RGD PMID:29440992|REF_RGD_ID:13506949 8871146 Bid BH3 interacting domain death agonist gene DOID:630 genetic disease ISO RGD:1346183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871146 Bid BH3 interacting domain death agonist gene DOID:684 hepatocellular carcinoma ISO RGD:1346183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15289866 8871146 Bid BH3 interacting domain death agonist gene DOID:9000217 Stomach Neoplasms ISO RGD:1346183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15095271 8871146 Bid BH3 interacting domain death agonist gene DOID:9004009 Reperfusion Injury ISO RGD:620160 D RGD:9068941 20200609 RGD PMID:19888517|REF_RGD_ID:2317562 8871146 Bid BH3 interacting domain death agonist gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8871146 Bid BH3 interacting domain death agonist gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620160 D RGD:9068941 20200609 RGD PMID:19940077|REF_RGD_ID:2317561 8871146 Bid BH3 interacting domain death agonist gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620160 D RGD:9068941 20200609 RGD protein:increased cleavage:heart: PMID:11934844|REF_RGD_ID:13782263 8871146 Bid BH3 interacting domain death agonist gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1346183 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8871156 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060019 coronin-1A deficiency ISO RGD:1605839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8871156 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8871156 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605839 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8871156 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1605839 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8871156 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1605839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8871156 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605839 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8871156 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605839 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8871156 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8871156 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8871156 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:630 genetic disease ISO RGD:1605839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871156 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8871156 Asphd1 aspartate beta-hydroxylase domain containing 1 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1605839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23127599 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:1883 hepatitis C ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17517063 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:305 carcinoma ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:4450 renal cell carcinoma ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131975 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:5062 phencyclidine abuse ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:630 genetic disease ISO RGD:735633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:783 end stage renal disease ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:783 end stage renal disease ameliorates ISO RGD:2302 D RGD:9068941 20230914 RGD PMID:19878707|REF_RGD_ID:2326081 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:9000528 Coronary Disease ISO RGD:735634 D RGD:9068941 20200609 RGD PMID:15967843|REF_RGD_ID:1580004 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:735634 D RGD:9068941 20200609 RGD PMID:15967843|REF_RGD_ID:1580004 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:9006379 Follicular Cyst ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404351 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2302 D RGD:9068941 20230831 RGD mRNA:increased expression:liver (rat) PMID:28959666|REF_RGD_ID:401794432 8871182 Scarb1 scavenger receptor class B member 1 gene DOID:9505 cannabis abuse ISO RGD:735633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8871222 Sgcb sarcoglycan beta gene DOID:0050700 cardiomyopathy ISO RGD:1312050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 8871222 Sgcb sarcoglycan beta gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1312050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10993494|PMID:11369190|PMID:12746421|PMID:15032976|PMID:15938573|PMID:17994539|PMID:18285821|PMID:19770540|PMID:22095924|PMID:25741868|PMID:25862795|PMID:26206375|PMID:26404900|PMID:26467025|PMID:28492532|PMID:28889091|PMID:29797799|PMID:30838351|PMID:7581449|PMID:8968749|PMID:9032047|PMID:9565988|PMID:9631401 8871222 Sgcb sarcoglycan beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E ISO RGD:1312050 D RGD:7240710 20180130 OMIM 8871222 Sgcb sarcoglycan beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E ISO RGD:1312050 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E | ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Beta-sarcoglycanopathy | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 PMID:10660328|PMID:10662809|PMID:10874299|PMID:10942431|PMID:10993494|PMID:11166169|PMID:11369190|PMID:12566530|PMID:12746421|PMID:12868499|PMID:15032976|PMID:15938573|PMID:15938574|PMID:16199547|PMID:16524571|PMID:17576681|PMID:17994539|PMID:18285821|PMID:18996010|PMID:19763152|PMID:19770540|PMID:20071171|PMID:20307669|PMID:21480868|PMID:22095924|PMID:22406018|PMID:23349452|PMID:25135358|PMID:25337728|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25862795|PMID:26206375|PMID:26404900|PMID:26467025|PMID:26990548|PMID:27108072|PMID:27234031|PMID:27276190|PMID:27671536|PMID:28403181|PMID:28492532|PMID:28687063|PMID:28883879|PMID:28889091|PMID:29797799|PMID:29970176|PMID:30564623|PMID:30764848|PMID:30838351|PMID:30919934|PMID:31069529|PMID:31268554|PMID:31937337|PMID:31980526|PMID:32528171|PMID:32875335|PMID:33250842|PMID:34008892|PMID:34925456|PMID:35416532|PMID:7581448|PMID:7581449|PMID:8968749|PMID:9032047|PMID:9536098|PMID:9565988|PMID:9631401 8871222 Sgcb sarcoglycan beta gene DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E treatment ISO RGD:1312050 D RGD:9068941 20200609 RGD PMID:28284983|REF_RGD_ID:13605613 8871222 Sgcb sarcoglycan beta gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 8871222 Sgcb sarcoglycan beta gene DOID:12930 dilated cardiomyopathy ISO RGD:1312050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12566530|PMID:15938573|PMID:25135358|PMID:25741868|PMID:25862795|PMID:28492532 8871222 Sgcb sarcoglycan beta gene DOID:630 genetic disease ISO RGD:1312050 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10942431|PMID:10993494|PMID:11369190|PMID:17994539|PMID:18285821|PMID:18996010|PMID:20071171|PMID:22095924|PMID:23349452|PMID:25135358|PMID:25741868|PMID:25862795|PMID:26206375|PMID:26404900|PMID:26467025|PMID:26990548|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31980526|PMID:32528171|PMID:8968749|PMID:9032047|PMID:9565988|PMID:9631401 8871222 Sgcb sarcoglycan beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8871222 Sgcb sarcoglycan beta gene DOID:9884 muscular dystrophy ISO RGD:1312050 D RGD:9068941 20200609 RGD autosomal recessive limb-girdle muscular dystrophies (LGMD type 2C-F), OMIM:600900 PMID:9631401|REF_RGD_ID:1599343 8871234 Rnpc3 RNA binding region (RNP1, RRM) containing 3 gene DOID:0060870 isolated growth hormone deficiency ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:24480542|PMID:29255062 8871234 Rnpc3 RNA binding region (RNP1, RRM) containing 3 gene DOID:0111510 Marshall syndrome ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868 8871234 Rnpc3 RNA binding region (RNP1, RRM) containing 3 gene DOID:12849 autistic disorder ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8871234 Rnpc3 RNA binding region (RNP1, RRM) containing 3 gene DOID:1826 epilepsy ISO RGD:1350307 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8871234 Rnpc3 RNA binding region (RNP1, RRM) containing 3 gene DOID:630 genetic disease ISO RGD:1350307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871234 Rnpc3 RNA binding region (RNP1, RRM) containing 3 gene DOID:9009240 Isolated Growth Hormone Deficiency Type V ISO RGD:1350307 D RGD:7240710 20190315 OMIM 8871234 Rnpc3 RNA binding region (RNP1, RRM) containing 3 gene DOID:9009240 Isolated Growth Hormone Deficiency Type V ISO RGD:1350307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7 PMID:24480542|PMID:25741868|PMID:29255062|PMID:32462814|PMID:33650182 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:25741868|PMID:28492532 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050562 West syndrome ISO RGD:1354096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome PMID:18414213|PMID:19786696|PMID:20956790|PMID:23550958|PMID:23708187|PMID:23934111|PMID:23935176|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25741868|PMID:25772804|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26648591|PMID:26993267|PMID:27159988|PMID:27334371|PMID:27824329|PMID:27867041|PMID:28065826|PMID:28256214|PMID:28379373|PMID:28492532|PMID:28628100|PMID:28708303|PMID:28947817|PMID:29186148|PMID:29655203|PMID:29844171|PMID:30185235|PMID:30361185|PMID:30776697|PMID:30813884|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31332282|PMID:31558572|PMID:31785789|PMID:31957018|PMID:31981491|PMID:31995133|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32613771|PMID:32651551|PMID:32860008|PMID:33084218|PMID:33818783|PMID:34469436 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354096 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15048894|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479388|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20371507|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:23935176|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:26993267|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29068549|PMID:29100083|PMID:29655203|PMID:30619928|PMID:34782754 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354096 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15048894|PMID:15133511|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479388|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20371507|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:23935176|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:26993267|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28379373|PMID:28492532|PMID:28709814|PMID:29068549|PMID:29100083|PMID:29655203|PMID:30381472|PMID:30619928|PMID:31054490|PMID:31302675|PMID:31904120|PMID:32400968|PMID:34782754|PMID:35431799|PMID:37578743 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050889 non-syndromic intellectual disability ISO RGD:1354096 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:25741868 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0050952 spastic ataxia ISO RGD:1354096 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354096 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:22495306|PMID:23020937|PMID:24650168|PMID:25741868|PMID:26350204|PMID:28379373|PMID:28492532 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0060169 benign familial infantile epilepsy ISO RGD:1354096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Benign familial infantile convulsions syndrome | ClinVar Annotator: match by term: Benign familial infantile epilepsy | ClinVar Annotator: match by term: Benign infantile familial convulsions PMID:11326335|PMID:15048894|PMID:17021166|PMID:18479388|PMID:23360469|PMID:25741868|PMID:26132555|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29215089|PMID:37578743 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood | ClinVar Annotator: match by term: Infantile spasm PMID:18414213|PMID:20956790|PMID:23550958|PMID:25741868|PMID:26283219|PMID:26467025|PMID:26645390|PMID:27159988|PMID:27334371|PMID:28065826|PMID:28379373|PMID:28492532|PMID:30361185|PMID:30928199|PMID:31054490|PMID:31175295|PMID:32090326|PMID:32139178|PMID:32488064|PMID:32651551|PMID:32860008|PMID:33084218 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 ISO RGD:1354096 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT PMID:25741868|PMID:28492532 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1354096 D RGD:7240710 20180130 OMIM 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1354096 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus PMID:11326335|PMID:11738931|PMID:12037327|PMID:15028761|PMID:15048894|PMID:15133511|PMID:16199547|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18479388|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19786696|PMID:20358599|PMID:20371507|PMID:20522430|PMID:20956790|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21439835|PMID:21692795|PMID:21719429|PMID:22029951|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23360469|PMID:23550958|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23934111|PMID:23935176|PMID:24579881|PMID:24650168|PMID:24876116|PMID:25131622|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25492405|PMID:25533962|PMID:25741868|PMID:25772804|PMID:25937001|PMID:26068938|PMID:26132555|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26648591|PMID:26680202|PMID:26689363|PMID:26993267|PMID:27159988|PMID:27328862|PMID:27334371|PMID:27353043|PMID:27491411|PMID:27779742|PMID:27781031|PMID:27824329|PMID:27867041|PMID:28065826|PMID:28087622|PMID:28096396|PMID:28135719|PMID:28150151|PMID:28183995|PMID:28256214|PMID:28379373|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28708303|PMID:28709814|PMID:28947817|PMID:29068549|PMID:29100083|PMID:29186148|PMID:29215089|PMID:29358611|PMID:29389947|PMID:29635106|PMID:29655203|PMID:29691040|PMID:29720203|PMID:29844171|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30165711|PMID:30361185|PMID:30381472|PMID:30415926|PMID:30552426|PMID:30564305|PMID:30619928|PMID:30813884|PMID:30928199|PMID:31031587|PMID:31054490|PMID:31175295|PMID:31302675|PMID:31332282|PMID:31487502|PMID:31558572|PMID:31785789|PMID:31904120|PMID:31924505|PMID:31957018|PMID:31981491|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32651551|PMID:32750235|PMID:32845893|PMID:32860008|PMID:32893078|PMID:33000761|PMID:33004838|PMID:33084218|PMID:33278787|PMID:33731876|PMID:33818783|PMID:33851778|PMID:34055682|PMID:34156984|PMID:34469436|PMID:34782754|PMID:34894057|PMID:35431799|PMID:35571021|PMID:35715422|PMID:35887114|PMID:37578743|PMID:9536098 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0080422 Dravet syndrome ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy PMID:25741868 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:23935176|PMID:25741868|PMID:26648591|PMID:26993267|PMID:27867041|PMID:28379373|PMID:28492532|PMID:32400968 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868|PMID:28492532 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0081114 benign familial infantile seizures 1 ISO RGD:1354096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 1 PMID:26132555|PMID:37578743 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1354096 D RGD:7240710 20180130 OMIM 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1354096 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:11326335|PMID:11371648|PMID:11738931|PMID:12243921|PMID:12610651|PMID:15048894|PMID:15133511|PMID:15301839|PMID:15316014|PMID:16122630|PMID:16199547|PMID:16865694|PMID:16884893|PMID:17021166|PMID:17347258|PMID:17386050|PMID:17467289|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18379388|PMID:18414213|PMID:18479388|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19702560|PMID:19783390|PMID:19786696|PMID:20358599|PMID:20371507|PMID:20522430|PMID:20869590|PMID:20956790|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:21893419|PMID:22029951|PMID:22495306|PMID:22581653|PMID:22591750|PMID:22677033|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23360469|PMID:23550958|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23758435|PMID:23849776|PMID:23934111|PMID:23935176|PMID:24579881|PMID:24650168|PMID:24659627|PMID:24848745|PMID:24876116|PMID:25131622|PMID:25156649|PMID:25232683|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25473036|PMID:25492405|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25772804|PMID:25818041|PMID:25849321|PMID:25937001|PMID:25969726|PMID:25982755|PMID:26068938|PMID:26132555|PMID:26283219|PMID:26291284|PMID:26311622|PMID:2635020|PMID:26350204|PMID:26467025|PMID:26555645|PMID:26633542|PMID:26637798|PMID:26645390|PMID:26648591|PMID:26993267|PMID:27153334|PMID:27159988|PMID:27290639|PMID:27328862|PMID:27334371|PMID:27353043|PMID:27491411|PMID:27652284|PMID:27734276|PMID:27779742|PMID:27781028|PMID:27781031|PMID:27824329|PMID:27864847|PMID:27867041|PMID:28065826|PMID:28087622|PMID:28133863|PMID:28135719|PMID:28150151|PMID:28166811|PMID:28191889|PMID:28254201|PMID:28256214|PMID:28263302|PMID:28379373|PMID:28492532|PMID:28518218|PMID:28554332|PMID:28628100|PMID:28708303|PMID:28709814|PMID:28735751|PMID:28817111|PMID:28837158|PMID:28867142|PMID:28947817|PMID:29056246|PMID:29068549|PMID:29100083|PMID:29186148|PMID:29215089|PMID:29314583|PMID:29358611|PMID:29429461|PMID:29625812|PMID:29635106|PMID:29655203|PMID:29691040|PMID:29720203|PMID:29760947|PMID:29844171|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30185235|PMID:30314295|PMID:30361185|PMID:30381472|PMID:30415926|PMID:30552426|PMID:30564305|PMID:30619928|PMID:30776697|PMID:30859550|PMID:30928199|PMID:31054490|PMID:31144778|PMID:31175295|PMID:31302675|PMID:31332282|PMID:31487502|PMID:31526516|PMID:31558572|PMID:31904120|PMID:31957018|PMID:31995133|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32603808|PMID:32613771|PMID:32651551|PMID:32695065|PMID:32725632|PMID:32750235|PMID:32845893|PMID:32860008|PMID:33000761|PMID:33004838|PMID:33084218|PMID:33240318|PMID:33258288|PMID:33278787|PMID:33394222|PMID:33779092|PMID:33818783|PMID:34015165|PMID:34055682|PMID:34469436|PMID:34568804|PMID:34782754|PMID:34894057|PMID:3508699|PMID:35348308|PMID:35431799|PMID:35571021|PMID:35701389|PMID:35715422|PMID:36480001|PMID:37578743|PMID:6660252|PMID:9536098 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0090056 dystonia 12 ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 12 PMID:25741868 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0111112 nephronophthisis 1 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354096 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15048894|PMID:15133511|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479388|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20371507|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:23935176|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:26993267|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28379373|PMID:28492532|PMID:28709814|PMID:29068549|PMID:29100083|PMID:29655203|PMID:30381472|PMID:30619928|PMID:31054490|PMID:31302675|PMID:31904120|PMID:32400968|PMID:34782754|PMID:35431799|PMID:37578743 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:1059 intellectual disability ISO RGD:1354096 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:26993267|PMID:28379373|PMID:28492532 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:10969 hemiplegia ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemiplegia/hemiparesis PMID:25741868 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:12712 nephronophthisis ISO RGD:1354096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:12849 autistic disorder ISO RGD:1354096 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autism PMID:12610651|PMID:15316014|PMID:25232683|PMID:25741868|PMID:28191889|PMID:28492532|PMID:33394222 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:14264 benign neonatal seizures ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign Neonatal Epilepsy PMID:20371507|PMID:25741868|PMID:27779742|PMID:28379373|PMID:28492532|PMID:29100083|PMID:30619928|PMID:31904120|PMID:35431799 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures | ClinVar Annotator: match by term: Benign infantile familial convulsions PMID:15048894|PMID:18479388|PMID:23935176|PMID:25741868|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29215089|PMID:6660252 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1354096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15048894|PMID:15133511|PMID:16865694|PMID:17021166|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18414213|PMID:18479388|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20371507|PMID:20522430|PMID:20956790|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23550958|PMID:23559409|PMID:23662938|PMID:23708187|PMID:23935176|PMID:24579881|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:26132555|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26993267|PMID:27159988|PMID:27334371|PMID:27491411|PMID:27779742|PMID:27781031|PMID:28065826|PMID:28379373|PMID:28492532|PMID:28709814|PMID:29068549|PMID:29100083|PMID:29358611|PMID:29655203|PMID:30361185|PMID:30381472|PMID:30415926|PMID:30564305|PMID:30619928|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31302675|PMID:31904120|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32651551|PMID:32860008|PMID:33084218|PMID:33818783|PMID:34782754|PMID:35431799|PMID:37578743 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:1826 epilepsy ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:11326335|PMID:15048894|PMID:17021166|PMID:18414213|PMID:23360469|PMID:23708187|PMID:25326635|PMID:25741868|PMID:26291284|PMID:26645390|PMID:26993267|PMID:27781031|PMID:28379373|PMID:28492532|PMID:29215089|PMID:29844171|PMID:30859550|PMID:31558572|PMID:33818783 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:2234 focal epilepsy ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:2843 long QT syndrome ISO RGD:1354096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:37578743 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:3312 bipolar disorder ISO RGD:1354096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1354096 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:630 genetic disease ISO RGD:1354096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11371648|PMID:11738931|PMID:12037327|PMID:12620097|PMID:15048894|PMID:15301839|PMID:16122630|PMID:17576681|PMID:18414213|PMID:19702560|PMID:19783390|PMID:19786696|PMID:20869590|PMID:20956790|PMID:21439835|PMID:22029951|PMID:22495306|PMID:22581653|PMID:22591750|PMID:23020937|PMID:23195492|PMID:23603762|PMID:23708187|PMID:23849776|PMID:23935176|PMID:24579881|PMID:24650168|PMID:25131622|PMID:25156649|PMID:25326637|PMID:25473036|PMID:25741868|PMID:25818041|PMID:25937001|PMID:26291284|PMID:26416026|PMID:26467025|PMID:26555645|PMID:26645390|PMID:26680202|PMID:26689363|PMID:26993267|PMID:27328862|PMID:27353043|PMID:27824329|PMID:28087622|PMID:28096396|PMID:28150151|PMID:28183995|PMID:28191889|PMID:28256214|PMID:28263302|PMID:28379373|PMID:28492532|PMID:28518218|PMID:28617965|PMID:28735751|PMID:28947817|PMID:29100083|PMID:29597095|PMID:29691040|PMID:29852413|PMID:30415926|PMID:30564305|PMID:30619928|PMID:31054490|PMID:31302675|PMID:32090326|PMID:32400968|PMID:32845893|PMID:33000761|PMID:33004838|PMID:34156984|PMID:34469436|PMID:35715422|PMID:37578743|PMID:9536098 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1354096 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:20956790|PMID:23550958|PMID:23708187|PMID:25326635|PMID:25741868|PMID:26283219|PMID:26291284|PMID:26467025|PMID:26645390|PMID:26993267|PMID:27159988|PMID:27334371|PMID:27864847|PMID:28065826|PMID:28379373|PMID:28492532|PMID:29844171|PMID:30361185|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31558572|PMID:32090326|PMID:32139178|PMID:32488064|PMID:32651551|PMID:32860008|PMID:33084218|PMID:33818783 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1354096 D RGD:7240710 20200722 OMIM 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1354096 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Episodic ataxia, type 9 PMID:11326335|PMID:11371648|PMID:12243921|PMID:12620097|PMID:15028761|PMID:15048894|PMID:15301839|PMID:16199547|PMID:17021166|PMID:17467289|PMID:18379388|PMID:18414213|PMID:18479388|PMID:19783390|PMID:19786696|PMID:20371507|PMID:20869590|PMID:20956790|PMID:22677033|PMID:23020937|PMID:23360469|PMID:23550958|PMID:23662938|PMID:23708187|PMID:23758435|PMID:23849776|PMID:23934111|PMID:23935176|PMID:25326635|PMID:25326637|PMID:25459969|PMID:25533962|PMID:25741868|PMID:25772804|PMID:25849321|PMID:25937001|PMID:26132555|PMID:26283219|PMID:26291284|PMID:26416026|PMID:26467025|PMID:26645390|PMID:26648591|PMID:26993267|PMID:27159988|PMID:27328862|PMID:27334371|PMID:27779742|PMID:27781031|PMID:27824329|PMID:27867041|PMID:28065826|PMID:28135719|PMID:28256214|PMID:28263302|PMID:28379373|PMID:28492532|PMID:28617965|PMID:28628100|PMID:28708303|PMID:28947817|PMID:29100083|PMID:29186148|PMID:29215089|PMID:29358611|PMID:29597095|PMID:29655203|PMID:29691040|PMID:29844171|PMID:29852413|PMID:30144217|PMID:30165711|PMID:30185235|PMID:30361185|PMID:30552426|PMID:30564305|PMID:30619928|PMID:30776697|PMID:30813884|PMID:30859550|PMID:30928199|PMID:31054490|PMID:31175295|PMID:31302675|PMID:31332282|PMID:31558572|PMID:31785789|PMID:31904120|PMID:31924505|PMID:31957018|PMID:31981491|PMID:31995133|PMID:32090326|PMID:32139178|PMID:32400968|PMID:32488064|PMID:32613771|PMID:32651551|PMID:32750235|PMID:32860008|PMID:32893078|PMID:33084218|PMID:33818783|PMID:33851778|PMID:34055682|PMID:34114234|PMID:34469436|PMID:34894057|PMID:3508699|PMID:35431799|PMID:37578743 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1354096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9007722 Myoclonus ISO RGD:1354096 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Myoclonus 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9007956 Febrile Seizures ISO RGD:1354096 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Febrile seizures | ClinVar Annotator: match by term: febrile convulsion PMID:25741868|PMID:28492532 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1354096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532|PMID:32581362 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:9008582 Developmental Disease ISO RGD:1354096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28379373|PMID:28492532|PMID:29655203|PMID:29852413|PMID:30564305 8871258 Scn2a sodium voltage-gated channel alpha subunit 2 gene DOID:963 episodic ataxia ISO RGD:1354096 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:12037327|PMID:20956790|PMID:25326637|PMID:26993267|PMID:27353043 8871301 Efhc1 EF-hand domain containing 1 gene DOID:0070309 absence epilepsy ISO RGD:1317534 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Absence epilepsy | ClinVar Annotator: match by term: Absence seizure PMID:12439895|PMID:15258581|PMID:16839746|PMID:17054699|PMID:17159113|PMID:17576681|PMID:17634063|PMID:18414213|PMID:18823326|PMID:20981092|PMID:22226147|PMID:22690745|PMID:22727576|PMID:22926142|PMID:23527921|PMID:24033266|PMID:24965021|PMID:25108116|PMID:25489633|PMID:25625532|PMID:25741868|PMID:26467025|PMID:27467453|PMID:28166811|PMID:28370826|PMID:28492532|PMID:29750216|PMID:31875159|PMID:8737649|PMID:9536098 8871301 Efhc1 EF-hand domain containing 1 gene DOID:0111321 idiopathic generalized epilepsy 7 ISO RGD:1317534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EIG7 PMID:25741868|PMID:28166811|PMID:28492532 8871301 Efhc1 EF-hand domain containing 1 gene DOID:0111324 juvenile absence epilepsy 1 ISO RGD:1317534 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 PMID:25741868|PMID:28492532 8871301 Efhc1 EF-hand domain containing 1 gene DOID:0111324 juvenile absence epilepsy 1 susceptibility ISO RGD:1317534 D RGD:7240710 20190904 OMIM 8871301 Efhc1 EF-hand domain containing 1 gene DOID:1825 childhood absence epilepsy ISO RGD:1317534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8871301 Efhc1 EF-hand domain containing 1 gene DOID:1826 epilepsy ISO RGD:1317534 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532 8871301 Efhc1 EF-hand domain containing 1 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1317534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Janz syndrome | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 PMID:12439895|PMID:15258581|PMID:16199547|PMID:16839746|PMID:17054699|PMID:17159113|PMID:17576681|PMID:17634063|PMID:18414213|PMID:18505993|PMID:18823326|PMID:20981092|PMID:22226147|PMID:22690745|PMID:22727576|PMID:22926142|PMID:23527921|PMID:24033266|PMID:24965021|PMID:25108116|PMID:25326635|PMID:25489633|PMID:25625532|PMID:25741868|PMID:26467025|PMID:27467453|PMID:28166811|PMID:28370826|PMID:28492532|PMID:29750216|PMID:31875159|PMID:8737649|PMID:9536098 8871301 Efhc1 EF-hand domain containing 1 gene DOID:4890 juvenile myoclonic epilepsy susceptibility ISO RGD:1317534 D RGD:7240710 20190502 OMIM 8871301 Efhc1 EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1317534 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 8871315 Kat14 lysine acetyltransferase 14 gene DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 ISO RGD:1319928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 PMID:25741868|PMID:28386624 8871315 Kat14 lysine acetyltransferase 14 gene DOID:630 genetic disease ISO RGD:1319928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871315 Kat14 lysine acetyltransferase 14 gene DOID:9008086 Developmental Disabilities ISO RGD:1319928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 8871338 Fbxl13 F-box and leucine rich repeat protein 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8871338 Fbxl13 F-box and leucine rich repeat protein 13 gene DOID:630 genetic disease ISO RGD:1353687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871370 Sowaha sosondowah ankyrin repeat domain family member A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8871370 Sowaha sosondowah ankyrin repeat domain family member A gene DOID:630 genetic disease ISO RGD:1602435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871370 Sowaha sosondowah ankyrin repeat domain family member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8871370 Sowaha sosondowah ankyrin repeat domain family member A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8871379 Rbl1 RB transcriptional corepressor like 1 gene DOID:2234 focal epilepsy ISO RGD:1313374 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8871379 Rbl1 RB transcriptional corepressor like 1 gene DOID:630 genetic disease ISO RGD:1313374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871379 Rbl1 RB transcriptional corepressor like 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1313374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 8871419 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8871419 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:0110255 cataract 5 multiple types ISO RGD:736416 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8871419 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:3908 lung non-small cell carcinoma ISO RGD:736416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17195088 8871419 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:6000 congestive heart failure ISO RGD:736416 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:18056528|REF_RGD_ID:2311701 8871419 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:630 genetic disease ISO RGD:736416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871419 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736417 D RGD:9068941 20200609 RGD PMID:17525370|REF_RGD_ID:2311702 8871419 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9003936 Cardiomegaly ISO RGD:736416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056528 8871419 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9003936 Cardiomegaly ISO RGD:736417 D RGD:9068941 20200609 RGD PMID:18056528|REF_RGD_ID:2311701 8871419 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9007692 Insulin Resistance ISO RGD:736416 D RGD:9068941 20200609 RGD PMID:16537411|REF_RGD_ID:2311703 8871419 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9008939 Breast Neoplasms ISO RGD:736416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17195088 8871419 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:736416 D RGD:9068941 20200609 RGD DNA:repeat:intron (human) PMID:10024077|REF_RGD_ID:2311705 8871419 Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:736416 D RGD:9068941 20200609 RGD associated with Obesity;DNA:polymorphism:intron:4681C>T (human) PMID:15161552|REF_RGD_ID:2311704 8871431 B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8871431 B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8871431 B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:2340 craniosynostosis ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8871431 B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:630 genetic disease ISO RGD:1313364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871431 B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8871431 B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 gene DOID:9269 maple syrup urine disease ISO RGD:1313364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8871452 Reg4 regenerating family member 4 gene DOID:0050722 PHGDH deficiency ISO RGD:1352664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 8871452 Reg4 regenerating family member 4 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1352664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 8871452 Reg4 regenerating family member 4 gene DOID:630 genetic disease ISO RGD:1352664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871452 Reg4 regenerating family member 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17237819 8871459 Scp2d1 SCP2 sterol binding domain containing 1 gene DOID:630 genetic disease ISO RGD:1318122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871473 Taf1c TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:0110618 primary ciliary dyskinesia 13 ISO RGD:1313816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 PMID:25741868 8871473 Taf1c TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:12849 autistic disorder ISO RGD:1313816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 8871473 Taf1c TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1313816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8871473 Taf1c TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:630 genetic disease ISO RGD:1313816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871473 Taf1c TATA-box binding protein associated factor, RNA polymerase I subunit C gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313816 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:19944400|PMID:19944405|PMID:24033266|PMID:28492532 8871504 Clasp2 cytoplasmic linker associated protein 2 gene DOID:630 genetic disease ISO RGD:733933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871572 Pde6a phosphodiesterase 6A gene DOID:0050439 Usher syndrome ISO RGD:1315676 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24265693|PMID:25182519|PMID:25741868|PMID:28492532 8871572 Pde6a phosphodiesterase 6A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8871572 Pde6a phosphodiesterase 6A gene DOID:0110379 retinitis pigmentosa 43 ISO RGD:1315676 D RGD:7240710 20180130 OMIM 8871572 Pde6a phosphodiesterase 6A gene DOID:0110379 retinitis pigmentosa 43 ISO RGD:1315676 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 43 PMID:10393062|PMID:16199547|PMID:17110911|PMID:17576681|PMID:18849587|PMID:21039428|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25182519|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26321862|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28157543|PMID:28492532|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:31872526|PMID:33057649|PMID:33090715|PMID:33946315|PMID:34906470|PMID:34926197|PMID:35533076|PMID:36819107|PMID:7493036|PMID:9536098 8871572 Pde6a phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036 8871572 Pde6a phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:7493036 8871572 Pde6a phosphodiesterase 6A gene DOID:10584 retinitis pigmentosa ISO RGD:1315676 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:16199547|PMID:17110911|PMID:18723146|PMID:21147909|PMID:21151602|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24265693|PMID:24339724|PMID:24416769|PMID:24512775|PMID:25182519|PMID:25741868|PMID:25775262|PMID:25999674|PMID:26188004|PMID:26306921|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27820873|PMID:27917291|PMID:28041643|PMID:28492532|PMID:29118501|PMID:29343940|PMID:29693493|PMID:30029497|PMID:30337596|PMID:30619975|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31736247|PMID:33057649|PMID:33090715|PMID:34906470|PMID:35533076|PMID:36819107|PMID:36909829|PMID:7493036 8871572 Pde6a phosphodiesterase 6A gene DOID:14791 Leber congenital amaurosis ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 8871572 Pde6a phosphodiesterase 6A gene DOID:630 genetic disease ISO RGD:1315676 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22128245|PMID:23847139|PMID:25741868|PMID:26321862|PMID:26496393|PMID:26806561|PMID:28041643|PMID:28492532|PMID:29693493|PMID:30619975|PMID:36909829|PMID:7493036 8871572 Pde6a phosphodiesterase 6A gene DOID:8501 fundus dystrophy ISO RGD:1315676 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10393062|PMID:16199547|PMID:17110911|PMID:17576681|PMID:18849587|PMID:21039428|PMID:22128245|PMID:23105016|PMID:23134348|PMID:23847139|PMID:24339724|PMID:24416769|PMID:25741868|PMID:25775262|PMID:26188004|PMID:26806561|PMID:26868535|PMID:27208204|PMID:27551530|PMID:27917291|PMID:28041643|PMID:28157543|PMID:28492532|PMID:29343940|PMID:29693493|PMID:30543658|PMID:30718709|PMID:31872526|PMID:33057649|PMID:35533076|PMID:7493036|PMID:9536098 8871572 Pde6a phosphodiesterase 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8871572 Pde6a phosphodiesterase 6A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315676 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8871607 Dennd2b DENN domain containing 2B gene DOID:630 genetic disease ISO RGD:1319089 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871679 St6galnac2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1343813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17480010 8871679 St6galnac2 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1343813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871697 Scrib scribble planar cell polarity protein gene DOID:0080074 neural tube defect ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 8871697 Scrib scribble planar cell polarity protein gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8871697 Scrib scribble planar cell polarity protein gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8871697 Scrib scribble planar cell polarity protein gene DOID:10907 microcephaly ISO RGD:1321471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8871697 Scrib scribble planar cell polarity protein gene DOID:4621 holoprosencephaly ISO RGD:1321471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8871697 Scrib scribble planar cell polarity protein gene DOID:630 genetic disease ISO RGD:1321471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871740 Eif4g3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1322792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8871740 Eif4g3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1322792 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8871740 Eif4g3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1322792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8871740 Eif4g3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:10283 prostate cancer ISO RGD:1322792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8871740 Eif4g3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:630 genetic disease ISO RGD:1322792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871740 Eif4g3 eukaryotic translation initiation factor 4 gamma 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322792 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8871840 Prr7 proline rich 7, synaptic gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1345236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8871840 Prr7 proline rich 7, synaptic gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1345236 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8871840 Prr7 proline rich 7, synaptic gene DOID:14748 Sotos syndrome ISO RGD:1345236 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8871840 Prr7 proline rich 7, synaptic gene DOID:630 genetic disease ISO RGD:1345236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871840 Prr7 proline rich 7, synaptic gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8871847 Myo1d myosin ID gene DOID:12849 autistic disorder ISO RGD:1349117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17376794 8871847 Myo1d myosin ID gene DOID:630 genetic disease ISO RGD:1349117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:0111027 hemochromatosis type 2A ISO RGD:1320952 D RGD:7240710 20190315 OMIM 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:0111027 hemochromatosis type 2A ISO RGD:1320952 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:12482411|PMID:12891378|PMID:14647275|PMID:14982867|PMID:14982873|PMID:15138164|PMID:15194541|PMID:15254010|PMID:15461631|PMID:15610558|PMID:15710580|PMID:15775751|PMID:15811010|PMID:16103117|PMID:17339196|PMID:17490902|PMID:17726683|PMID:17938254|PMID:18492090|PMID:18827264|PMID:18976966|PMID:19796184|PMID:19907145|PMID:20301349|PMID:21411349|PMID:21901660|PMID:22408404|PMID:24033266|PMID:25741868|PMID:26151776|PMID:26633544|PMID:27753142|PMID:28363629|PMID:28492532|PMID:29764732|PMID:30166352|PMID:30195625|PMID:30389309|PMID:32824233|PMID:34946929 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:0111029 hemochromatosis type 1 ISO RGD:1320952 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:12891378|PMID:14647275|PMID:14982867|PMID:14982873|PMID:15138164|PMID:15254010|PMID:15610558|PMID:15811010|PMID:16103117|PMID:17339196|PMID:18827264|PMID:19796184|PMID:22408404|PMID:24033266|PMID:25741868|PMID:28492532 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:0111034 hemochromatosis type 2 ISO RGD:1320952 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2 | ClinVar Annotator: match by term: Juvenile hemochromatosis PMID:25741868|PMID:28492532|PMID:29764732 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:13580 cholestasis ISO RGD:1320952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1320952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1320952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:2352 hemochromatosis ISO RGD:1320952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16868025|PMID:17255318|PMID:19252486|PMID:21411349 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:2352 hemochromatosis ISO RGD:1320952 D RGD:9068941 20200609 RGD juvenile hemochromatosis, type 2A, OMIM:602390 protein:substitution:CDS:G320V PMID:14647275|REF_RGD_ID:1599478 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:5419 schizophrenia ISO RGD:1320952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:630 genetic disease ISO RGD:1320952 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8871876 Hjv hemojuvelin BMP co-receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8871884 Lag3 lymphocyte activating 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8871884 Lag3 lymphocyte activating 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8871884 Lag3 lymphocyte activating 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1344873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8871884 Lag3 lymphocyte activating 3 gene DOID:630 genetic disease ISO RGD:1344873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871884 Lag3 lymphocyte activating 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8871896 Mfsd6 major facilitator superfamily domain containing 6 gene DOID:0111944 immunodeficiency 31B ISO RGD:1603217 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 8871896 Mfsd6 major facilitator superfamily domain containing 6 gene DOID:630 genetic disease ISO RGD:1603217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871896 Mfsd6 major facilitator superfamily domain containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8871916 Cinp cyclin dependent kinase 2 interacting protein gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1602222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8871916 Cinp cyclin dependent kinase 2 interacting protein gene DOID:1826 epilepsy ISO RGD:1602222 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26539891 8871925 Lrp6 LDL receptor related protein 6 gene DOID:0050567 orofacial cleft ISO RGD:1312373 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:22813217|PMID:23806086|PMID:26963285 8871925 Lrp6 LDL receptor related protein 6 gene DOID:0050591 tooth agenesis ISO RGD:1312373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis PMID:22813217|PMID:23033978|PMID:25741868|PMID:26963285|PMID:28492532 8871925 Lrp6 LDL receptor related protein 6 gene DOID:0050770 polycystic liver disease ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:28492532 8871925 Lrp6 LDL receptor related protein 6 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1312373 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8871925 Lrp6 LDL receptor related protein 6 gene DOID:0080074 neural tube defect ISO RGD:1312374 D RGD:9068941 20220825 MouseDO OMIM:182940 | OMIM:301410 | OMIM:601634 8871925 Lrp6 LDL receptor related protein 6 gene DOID:10126 keratoconus ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 8871925 Lrp6 LDL receptor related protein 6 gene DOID:10283 prostate cancer ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8871925 Lrp6 LDL receptor related protein 6 gene DOID:3393 coronary artery disease ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:28492532 8871925 Lrp6 LDL receptor related protein 6 gene DOID:630 genetic disease ISO RGD:1312373 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33391533 8871925 Lrp6 LDL receptor related protein 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1312373 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868|PMID:28492532 8871925 Lrp6 LDL receptor related protein 6 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1312373 D RGD:9068941 20200609 RGD PMID:12660824|REF_RGD_ID:2298724 8871925 Lrp6 LDL receptor related protein 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312374 D RGD:9068941 20200609 RGD PMID:18006602|REF_RGD_ID:4110127 8871925 Lrp6 LDL receptor related protein 6 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1312373 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:28492532 8871925 Lrp6 LDL receptor related protein 6 gene DOID:9002374 Coronary Artery Disease, Autosomal Dominant 2 ISO RGD:1312373 D RGD:7240710 20180130 OMIM 8871925 Lrp6 LDL receptor related protein 6 gene DOID:9002374 Coronary Artery Disease, Autosomal Dominant 2 ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2 PMID:17332414|PMID:23703864|PMID:25741868|PMID:28492532 8871925 Lrp6 LDL receptor related protein 6 gene DOID:9006646 Metabolic Syndrome ISO RGD:1312373 D RGD:9068941 20200609 RGD DNA:missense mutation:cds PMID:17332414|REF_RGD_ID:2298725 8871925 Lrp6 LDL receptor related protein 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1312373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24552774 8871925 Lrp6 LDL receptor related protein 6 gene DOID:9007661 Dwarfism ISO RGD:1312373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 8871925 Lrp6 LDL receptor related protein 6 gene DOID:9008283 Selective Tooth Agenesis 7 ISO RGD:1312373 D RGD:7240710 20180130 OMIM 8871925 Lrp6 LDL receptor related protein 6 gene DOID:9008283 Selective Tooth Agenesis 7 ISO RGD:1312373 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: LRP6-related condition | ClinVar Annotator: match by term: Tooth agenesis, selective, 7 PMID:17332414|PMID:22813217|PMID:23033978|PMID:25741868|PMID:26387593|PMID:26963285|PMID:28492532|PMID:34306029 8871925 Lrp6 LDL receptor related protein 6 gene DOID:9452 steatotic liver disease ISO RGD:1312374 D RGD:9068941 20220825 MouseDO OMIM:228100 8871956 Tbc1d21 TBC1 domain family member 21 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8871956 Tbc1d21 TBC1 domain family member 21 gene DOID:2717 Bloom syndrome ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8871956 Tbc1d21 TBC1 domain family member 21 gene DOID:3320 Tay-Sachs disease ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8871956 Tbc1d21 TBC1 domain family member 21 gene DOID:5419 schizophrenia ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8871956 Tbc1d21 TBC1 domain family member 21 gene DOID:630 genetic disease ISO RGD:1353455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8871956 Tbc1d21 TBC1 domain family member 21 gene DOID:9256 colorectal cancer ISO RGD:1353455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8871971 Gzf1 GDNF inducible zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1318777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8871971 Gzf1 GDNF inducible zinc finger protein 1 gene DOID:9001623 JOINT LAXITY, SHORT STATURE, AND MYOPIA ISO RGD:1318777 D RGD:7240710 20190315 OMIM 8871971 Gzf1 GDNF inducible zinc finger protein 1 gene DOID:9001623 JOINT LAXITY, SHORT STATURE, AND MYOPIA ISO RGD:1318777 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GZF1-related condition | ClinVar Annotator: match by term: Joint laxity, short stature, and myopia PMID:25741868|PMID:28475863|PMID:28492532|PMID:35802133|PMID:36633841 8871993 Msl3 MSL complex subunit 3 gene DOID:0050735 X-linked monogenic disease ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 8871993 Msl3 MSL complex subunit 3 gene DOID:0111838 Basilicata-Akhtar syndrome ISO RGD:1605696 D RGD:7240710 20191002 OMIM 8871993 Msl3 MSL complex subunit 3 gene DOID:0111838 Basilicata-Akhtar syndrome ISO RGD:1605696 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Basilicata-Akhtar syndrome PMID:25741868|PMID:30224647|PMID:33173220 8871993 Msl3 MSL complex subunit 3 gene DOID:0112018 non-syndromic X-linked intellectual disability 104 ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 8871993 Msl3 MSL complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30224647 8871993 Msl3 MSL complex subunit 3 gene DOID:12849 autistic disorder ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8871993 Msl3 MSL complex subunit 3 gene DOID:13938 amenorrhea ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8871993 Msl3 MSL complex subunit 3 gene DOID:630 genetic disease ISO RGD:1605696 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16227571|PMID:25741868|PMID:30224647 8871993 Msl3 MSL complex subunit 3 gene DOID:9001487 Facies ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 8871993 Msl3 MSL complex subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8871993 Msl3 MSL complex subunit 3 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 8871993 Msl3 MSL complex subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 8871993 Msl3 MSL complex subunit 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1605696 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224647 8872022 Rnf215 ring finger protein 215 gene DOID:630 genetic disease ISO RGD:1606686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872046 Slc24a1 solute carrier family 24 member 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:28492532 8872046 Slc24a1 solute carrier family 24 member 1 gene DOID:0110868 congenital stationary night blindness 1D ISO RGD:736859 D RGD:7240710 20180130 OMIM 8872046 Slc24a1 solute carrier family 24 member 1 gene DOID:0110868 congenital stationary night blindness 1D ISO RGD:736859 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1D PMID:12037007|PMID:16199547|PMID:17576681|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532|PMID:30902645|PMID:9536098 8872046 Slc24a1 solute carrier family 24 member 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8872046 Slc24a1 solute carrier family 24 member 1 gene DOID:10584 retinitis pigmentosa ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:12037007|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532 8872046 Slc24a1 solute carrier family 24 member 1 gene DOID:2717 Bloom syndrome ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8872046 Slc24a1 solute carrier family 24 member 1 gene DOID:630 genetic disease ISO RGD:736859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8872046 Slc24a1 solute carrier family 24 member 1 gene DOID:8501 fundus dystrophy ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12037007|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532 8872046 Slc24a1 solute carrier family 24 member 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620080 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebrum PMID:23564126|REF_RGD_ID:9685494 8872046 Slc24a1 solute carrier family 24 member 1 gene DOID:9256 colorectal cancer ISO RGD:736859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8872093 Id2 inhibitor of DNA binding 2 gene DOID:37 skin disease ISO RGD:732001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8872093 Id2 inhibitor of DNA binding 2 gene DOID:50 thyroid gland disease ISO RGD:732001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 8872093 Id2 inhibitor of DNA binding 2 gene DOID:5409 lung small cell carcinoma ISO RGD:732001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23582323 8872093 Id2 inhibitor of DNA binding 2 gene DOID:630 genetic disease ISO RGD:732001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872093 Id2 inhibitor of DNA binding 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2859 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:11746449|REF_RGD_ID:9686138 8872093 Id2 inhibitor of DNA binding 2 gene DOID:9000352 Vascular System Injuries ISO RGD:2859 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery, blood vessel wall (rat) PMID:11706002|REF_RGD_ID:619536 8872093 Id2 inhibitor of DNA binding 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732001 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17127702 8872093 Id2 inhibitor of DNA binding 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:732001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8872093 Id2 inhibitor of DNA binding 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8872115 Gypc glycophorin C (Gerbich blood group) gene DOID:0060224 atrial fibrillation ISO RGD:1321115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8872115 Gypc glycophorin C (Gerbich blood group) gene DOID:12365 malaria ISO RGD:1321115 D RGD:7240710 20230505 OMIM 8872115 Gypc glycophorin C (Gerbich blood group) gene DOID:12365 malaria ISO RGD:1321115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, resistance to PMID:11719395|PMID:12469115|PMID:1991173|PMID:21061946|PMID:5011657|PMID:8157284 8872115 Gypc glycophorin C (Gerbich blood group) gene DOID:630 genetic disease ISO RGD:1321115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872126 Poldip3 DNA polymerase delta interacting protein 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1322337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 8872126 Poldip3 DNA polymerase delta interacting protein 3 gene DOID:1059 intellectual disability ISO RGD:1322337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8872126 Poldip3 DNA polymerase delta interacting protein 3 gene DOID:630 genetic disease ISO RGD:1322337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872126 Poldip3 DNA polymerase delta interacting protein 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1322337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8872143 Ror2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0050581 brachydactyly ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly 8872143 Ror2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1313207 D RGD:7240710 20180130 OMIM 8872143 Ror2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0060764 autosomal recessive Robinow syndrome ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly PMID:10932186|PMID:10932187|PMID:10986040|PMID:15952209|PMID:16049033|PMID:17665217|PMID:18252861|PMID:18414213|PMID:18831060|PMID:19640924|PMID:25741868|PMID:26284319|PMID:28492532 8872143 Ror2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:25741868|PMID:28492532 8872143 Ror2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1313207 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:28492532 8872143 Ror2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:7240710 20180130 OMIM 8872143 Ror2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0110969 brachydactyly type B1 ISO RGD:1313207 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 | ClinVar Annotator: match by term: ROR2-related condition PMID:10700182|PMID:10932186|PMID:10932187|PMID:10986040|PMID:12919145|PMID:16199547|PMID:17101003|PMID:17576681|PMID:17665217|PMID:18252861|PMID:18414213|PMID:19461659|PMID:19533773|PMID:25741868|PMID:26284319|PMID:28492532|PMID:33937263|PMID:641944|PMID:9536098 8872143 Ror2 receptor tyrosine kinase like orphan receptor 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1313207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 8872143 Ror2 receptor tyrosine kinase like orphan receptor 2 gene DOID:630 genetic disease ISO RGD:1313207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18252861|PMID:25741868|PMID:26284319|PMID:28492532|PMID:9536098 8872143 Ror2 receptor tyrosine kinase like orphan receptor 2 gene DOID:674 cleft palate susceptibility ISO RGD:1313207 D RGD:9068941 20200609 RGD DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) PMID:22490406|REF_RGD_ID:11535950 8872143 Ror2 receptor tyrosine kinase like orphan receptor 2 gene DOID:9007661 Dwarfism ISO RGD:1313207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532|PMID:31680123|PMID:33937263 8872159 Mrps31 mitochondrial ribosomal protein S31 gene DOID:630 genetic disease ISO RGD:1316990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872183 Kat2a lysine acetyltransferase 2A gene DOID:0080074 neural tube defect ISO RGD:1316320 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.E568A, p.D609A (mouse) PMID:17325035|REF_RGD_ID:9590240 8872183 Kat2a lysine acetyltransferase 2A gene DOID:2043 hepatitis B treatment ISO RGD:1316320 D RGD:9068941 20200609 RGD PMID:23913178|REF_RGD_ID:9590262 8872183 Kat2a lysine acetyltransferase 2A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1316319 D RGD:9068941 20200609 RGD PMID:23543735|REF_RGD_ID:9590260 8872183 Kat2a lysine acetyltransferase 2A gene DOID:630 genetic disease ISO RGD:1316319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872183 Kat2a lysine acetyltransferase 2A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1316320 D RGD:9068941 20200609 RGD protein:increased expression:retina (mouse) PMID:15932940|REF_RGD_ID:9590239 8872215 Wdr43 WD repeat domain 43 gene DOID:630 genetic disease ISO RGD:1344839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872215 Wdr43 WD repeat domain 43 gene DOID:9009095 Neuroblastoma 3 ISO RGD:1344839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 8872240 Arfgef3 ARFGEF family member 3 gene DOID:543 dystonia ISO RGD:1320499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:33098801 8872240 Arfgef3 ARFGEF family member 3 gene DOID:630 genetic disease ISO RGD:1320499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872240 Arfgef3 ARFGEF family member 3 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1320499 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8872240 Arfgef3 ARFGEF family member 3 gene DOID:9007956 Febrile Seizures ISO RGD:1320499 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868 8872281 Ccdc167 coiled-coil domain containing 167 gene DOID:630 genetic disease ISO RGD:1352845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872289 Pcgf2 polycomb group ring finger 2 gene DOID:1059 intellectual disability ISO RGD:1352511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 8872289 Pcgf2 polycomb group ring finger 2 gene DOID:630 genetic disease ISO RGD:1352511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 8872289 Pcgf2 polycomb group ring finger 2 gene DOID:9001203 Turnpenny-Fry Syndrome ISO RGD:1352511 D RGD:7240710 20190424 OMIM 8872289 Pcgf2 polycomb group ring finger 2 gene DOID:9001203 Turnpenny-Fry Syndrome ISO RGD:1352511 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Turnpenny-fry syndrome PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 8872289 Pcgf2 polycomb group ring finger 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1352511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15525528|PMID:25741868|PMID:25741869|PMID:25741894|PMID:28492532|PMID:30343942 8872317 Cttn cortactin gene DOID:1059 intellectual disability ISO RGD:1352162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8872317 Cttn cortactin gene DOID:1749 squamous cell carcinoma ISO RGD:1352162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27148699 8872317 Cttn cortactin gene DOID:630 genetic disease ISO RGD:1352162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872317 Cttn cortactin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1352162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8872317 Cttn cortactin gene DOID:9005065 Leukoplakia ISO RGD:1352162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27148699 8872341 Tmem114 transmembrane protein 114 gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:2292465 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hao-Fountain syndrome 8872349 Sox21 SRY-box transcription factor 21 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8872349 Sox21 SRY-box transcription factor 21 gene DOID:630 genetic disease ISO RGD:1312334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872349 Sox21 SRY-box transcription factor 21 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8872355 Fer FER tyrosine kinase gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314798 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8872355 Fer FER tyrosine kinase gene DOID:12557 Duane retraction syndrome ISO RGD:1314798 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome PMID:25741868 8872355 Fer FER tyrosine kinase gene DOID:630 genetic disease ISO RGD:1314798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872355 Fer FER tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8872355 Fer FER tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314798 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8872381 Arhgef10l Rho guanine nucleotide exchange factor 10 like gene DOID:0050933 ovarian serous carcinoma susceptibility ISO RGD:1605662 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs10788679(human) PMID:29979793|REF_RGD_ID:14348955 8872381 Arhgef10l Rho guanine nucleotide exchange factor 10 like gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605662 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8872381 Arhgef10l Rho guanine nucleotide exchange factor 10 like gene DOID:3307 teratoma ISO RGD:1605662 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8872381 Arhgef10l Rho guanine nucleotide exchange factor 10 like gene DOID:6212 ovarian endometrial cancer susceptibility ISO RGD:1605662 D RGD:9068941 20200609 RGD DNA:SNP: :rs2256787(human) PMID:29979793|REF_RGD_ID:14348955 8872381 Arhgef10l Rho guanine nucleotide exchange factor 10 like gene DOID:630 genetic disease ISO RGD:1605662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872381 Arhgef10l Rho guanine nucleotide exchange factor 10 like gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1605662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:732524 D RGD:9068941 20200609 RGD protein:increased expression:tonsil, T cell PMID:18490405|REF_RGD_ID:4888517 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:0060500 drug allergy ISO RGD:732524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16630147 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:732524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:17641958|PMID:20485159 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:10283 prostate cancer ISO RGD:732524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:1205 allergic disease severity ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNP: :927T>C (human) PMID:16776674|REF_RGD_ID:4782072 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:12849 autistic disorder ISO RGD:732524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:219 colon cancer ISO RGD:732525 D RGD:9068941 20210108 RGD associated with Experimental Colitis PMID:28410235|REF_RGD_ID:40903055 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:9068941 20200609 RGD PMID:11591188|PMID:8087328|REF_RGD_ID:4848936|REF_RGD_ID:4888514 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNP: :927T>C (human) PMID:17153879|REF_RGD_ID:4781742 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) PMID:16630147|REF_RGD_ID:4784257 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma ISO RGD:732525 D RGD:9068941 20200609 RGD PMID:16387808|PMID:17689528|REF_RGD_ID:4781449|REF_RGD_ID:4843543 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma no_association ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNP: :927T>C (human) PMID:16776674|REF_RGD_ID:4782072 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma no_association ISO RGD:732524 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:multiple (human) PMID:16771777|REF_RGD_ID:4889116 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2841 asthma severity ISO RGD:732524 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa PMID:16123393|REF_RGD_ID:4847129 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:2942 bronchiolitis ISO RGD:732525 D RGD:9068941 20200609 RGD associated with Pneumovirus Infections PMID:16337014|REF_RGD_ID:4843953 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:619796 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20959046|REF_RGD_ID:4781441 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:732525 D RGD:9068941 20200609 RGD associated with Pneumonia PMID:14970333|REF_RGD_ID:4847792 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732524 D RGD:9068941 20200609 RGD PMID:18946234|REF_RGD_ID:4888516 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732524 D RGD:9068941 20200609 RGD associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium PMID:16689996|REF_RGD_ID:4783198 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:4483 rhinitis ISO RGD:732525 D RGD:9068941 20200609 RGD PMID:15379985|PMID:17627772|REF_RGD_ID:4781451|REF_RGD_ID:4847512 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:630 genetic disease ISO RGD:732524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:619796 D RGD:9068941 20200609 RGD associated with Anoxia PMID:12910720|REF_RGD_ID:4848274 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:850 lung disease ISO RGD:732525 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:11325876|REF_RGD_ID:4888512 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9000076 Closed Fractures ISO RGD:732524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19544365 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9000113 Pneumococcal Meningitis disease_progression ISO RGD:619796 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:brain (rat) PMID:31933824|REF_RGD_ID:40903068 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9000590 Dyspnea ISO RGD:619796 D RGD:9068941 20200609 RGD PMID:2825489|REF_RGD_ID:4888515 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:732525 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:16238585|REF_RGD_ID:4846883 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9001472 Nasal Polyps ISO RGD:732524 D RGD:9068941 20200609 RGD associated with Asthma PMID:11591188|REF_RGD_ID:4848936 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9001472 Nasal Polyps ISO RGD:732524 D RGD:9068941 20200609 RGD associated with Rhinitis;mRNA:increased expression:nasal cavity epithelium PMID:16689996|REF_RGD_ID:4783198 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9001472 Nasal Polyps ISO RGD:732524 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:16739673|REF_RGD_ID:4889117 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:619796 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:17499745|REF_RGD_ID:4781453 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:619796 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18790177|REF_RGD_ID:4781446 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:732525 D RGD:9068941 20210108 RGD associated with Endotoxemia PMID:27703200|REF_RGD_ID:40903067 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9005372 Inflammation ISO RGD:732524 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:12487226|REF_RGD_ID:4848616 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:732524 D RGD:9068941 20210108 RGD PMID:18571838|REF_RGD_ID:40903061 8872427 Cysltr1 cysteinyl leukotriene receptor 1 gene DOID:9415 allergic asthma treatment ISO RGD:732525 D RGD:9068941 20210108 RGD PMID:23933317|REF_RGD_ID:40903070 8872437 Kpna4 karyopherin subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1322966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872468 Cntnap2 contactin associated protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:28492532|PMID:30763456 8872468 Cntnap2 contactin associated protein 2 gene DOID:0060243 stuttering ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21108403 8872468 Cntnap2 contactin associated protein 2 gene DOID:0060244 specific language impairment susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs: :(human) PMID:18987363|REF_RGD_ID:13450918 8872468 Cntnap2 contactin associated protein 2 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:18414213|PMID:25741868|PMID:26467025|PMID:27747449|PMID:28492532 8872468 Cntnap2 contactin associated protein 2 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1352756 D RGD:7240710 20240313 OMIM 8872468 Cntnap2 contactin associated protein 2 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1352756 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:11568923|PMID:16199547|PMID:16571880|PMID:17576681|PMID:18179895|PMID:18414213|PMID:19302947|PMID:19896112|PMID:20711234|PMID:21827697|PMID:22031302|PMID:22872700|PMID:23714751|PMID:24083349|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25640679|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26843181|PMID:27066544|PMID:27439707|PMID:27621318|PMID:27734276|PMID:27747449|PMID:28252636|PMID:28440294|PMID:28492532|PMID:28726809|PMID:29261713|PMID:29358611|PMID:29788201|PMID:31875159|PMID:32860008|PMID:33528079|PMID:33895390|PMID:34540591|PMID:34778490|PMID:34926809|PMID:36011376|PMID:37183190|PMID:6564677|PMID:9536098 8872468 Cntnap2 contactin associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1352756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18179895|PMID:20711234|PMID:22872700|PMID:24807205|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27439707|PMID:28492532 8872468 Cntnap2 contactin associated protein 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 8872468 Cntnap2 contactin associated protein 2 gene DOID:11257 social phobia susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNP: :rs2710102(human) PMID:21193173|REF_RGD_ID:13450911 8872468 Cntnap2 contactin associated protein 2 gene DOID:11832 visual epilepsy ISO RGD:1307076 D RGD:9068941 20230202 RGD PMID:28364455|REF_RGD_ID:12880397 8872468 Cntnap2 contactin associated protein 2 gene DOID:11832 visual epilepsy ISO RGD:1316053 D RGD:9068941 20230202 RGD PMID:28364455|REF_RGD_ID:12880397 8872468 Cntnap2 contactin associated protein 2 gene DOID:11832 visual epilepsy ISO RGD:1352756 D RGD:9068941 20230202 RGD DNA:deletions: PMID:19896112|REF_RGD_ID:13450912 8872468 Cntnap2 contactin associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1352756 D RGD:7240710 20240313 OMIM 8872468 Cntnap2 contactin associated protein 2 gene DOID:12849 autistic disorder ISO RGD:1352756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 15 PMID:17576681|PMID:18179893|PMID:18179894|PMID:18179895|PMID:18414213|PMID:19456320|PMID:20711234|PMID:21681106|PMID:22872700|PMID:24807205|PMID:25167861|PMID:25621974|PMID:25741868|PMID:26467025|PMID:27734276|PMID:27747449|PMID:28492532|PMID:29358611|PMID:29788201|PMID:30208311|PMID:31875159|PMID:9536098 8872468 Cntnap2 contactin associated protein 2 gene DOID:12849 autistic disorder no_association ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2710102,rs7794745(human) PMID:23277129|REF_RGD_ID:13450907 8872468 Cntnap2 contactin associated protein 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:1352756 D RGD:9068941 20240314 RGD DNA:SNP: :rs7794745(human) PMID:18179894|REF_RGD_ID:13450909 8872468 Cntnap2 contactin associated protein 2 gene DOID:13365 reading disorder susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:21165691|REF_RGD_ID:13450919 8872468 Cntnap2 contactin associated protein 2 gene DOID:14330 Parkinson's disease ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 8872468 Cntnap2 contactin associated protein 2 gene DOID:1470 major depressive disorder susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs: : rs2710102,rs2710117(human) PMID:23123147|REF_RGD_ID:13450917 8872468 Cntnap2 contactin associated protein 2 gene DOID:14731 Weaver syndrome ISO RGD:1352756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:28492532 8872468 Cntnap2 contactin associated protein 2 gene DOID:1826 epilepsy ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8872468 Cntnap2 contactin associated protein 2 gene DOID:2234 focal epilepsy ISO RGD:1352756 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:25741868 8872468 Cntnap2 contactin associated protein 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1352756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:18179895|PMID:22872700|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29788201 8872468 Cntnap2 contactin associated protein 2 gene DOID:4186 articulation disorder susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs253897(human) PMID:25895914|REF_RGD_ID:11529633 8872468 Cntnap2 contactin associated protein 2 gene DOID:4189 mutism susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs2710102,rs6944808(human) PMID:21193173|REF_RGD_ID:13450911 8872468 Cntnap2 contactin associated protein 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8872468 Cntnap2 contactin associated protein 2 gene DOID:5419 schizophrenia ISO RGD:1352756 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8872468 Cntnap2 contactin associated protein 2 gene DOID:5419 schizophrenia susceptibility ISO RGD:1352756 D RGD:9068941 20200609 RGD DNA:SNP: : rs17236239(human) PMID:23123147|REF_RGD_ID:13450917 8872468 Cntnap2 contactin associated protein 2 gene DOID:630 genetic disease ISO RGD:1352756 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18179895|PMID:18414213|PMID:19896112|PMID:20711234|PMID:21827697|PMID:22872700|PMID:23714751|PMID:24807205|PMID:25045150|PMID:25167861|PMID:25621974|PMID:25741868|PMID:26467025|PMID:26843181|PMID:27439707|PMID:27621318|PMID:27747449|PMID:28252636|PMID:28440294|PMID:28492532|PMID:29358611|PMID:29788201|PMID:31875159|PMID:37183190|PMID:6564677 8872468 Cntnap2 contactin associated protein 2 gene DOID:8927 learning disability ISO RGD:1316053 D RGD:9068941 20200609 RGD PMID:26873041|REF_RGD_ID:13450914 8872468 Cntnap2 contactin associated protein 2 gene DOID:9001846 Schizoaffective Disorder, Depressive Type ISO RGD:1352756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizoaffective disorder, depressive type PMID:26985448 8872468 Cntnap2 contactin associated protein 2 gene DOID:9002362 Hyperkinesis ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21962519 8872468 Cntnap2 contactin associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352756 D RGD:9068941 20200609 RGD PMID:28572274|REF_RGD_ID:13450910 8872468 Cntnap2 contactin associated protein 2 gene DOID:9005466 Language Development Disorders ISO RGD:1352756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20157312|PMID:21082657|PMID:21310003 8872496 Esyt1 extended synaptotagmin 1 gene DOID:630 genetic disease ISO RGD:733690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872531 LOC102026964 chromosome unknown open reading frame, human C2orf49 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 8872531 LOC102026964 chromosome unknown open reading frame, human C2orf49 gene DOID:0050700 cardiomyopathy ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 8872531 LOC102026964 chromosome unknown open reading frame, human C2orf49 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1604297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 8872531 LOC102026964 chromosome unknown open reading frame, human C2orf49 gene DOID:12930 dilated cardiomyopathy ISO RGD:1604297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:27532257|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 8872531 LOC102026964 chromosome unknown open reading frame, human C2orf49 gene DOID:12930 dilated cardiomyopathy ISO RGD:1604297 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:27532257|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:33932144|PMID:9536098 8872531 LOC102026964 chromosome unknown open reading frame, human C2orf49 gene DOID:630 genetic disease ISO RGD:1604297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8872531 LOC102026964 chromosome unknown open reading frame, human C2orf49 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1604297 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 8872539 Txndc5 thioredoxin domain containing 5 gene DOID:0080600 COVID-19 ISO RGD:1313292 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 8872539 Txndc5 thioredoxin domain containing 5 gene DOID:630 genetic disease ISO RGD:1313292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872539 Txndc5 thioredoxin domain containing 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1313292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326410 8872539 Txndc5 thioredoxin domain containing 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 8872539 Txndc5 thioredoxin domain containing 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8872539 Txndc5 thioredoxin domain containing 5 gene DOID:9002457 Experimental Arthritis ISO RGD:1313292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326410 8872556 CUNH15orf62 chromosome unknown C15orf62 homolog gene DOID:2717 Bloom syndrome ISO RGD:2299194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8872556 CUNH15orf62 chromosome unknown C15orf62 homolog gene DOID:9256 colorectal cancer ISO RGD:2299194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8872562 Znrf4 zinc and ring finger 4 gene DOID:630 genetic disease ISO RGD:1345671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872567 Ccna1 cyclin A1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1321661 D RGD:9068941 20200609 RGD human gene, mouse model PMID:18612129|REF_RGD_ID:2316302 8872567 Ccna1 cyclin A1 gene DOID:11166 papillomavirus infectious disease ISO RGD:1321661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896 8872567 Ccna1 cyclin A1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1321661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23358896|PMID:29464035 8872567 Ccna1 cyclin A1 gene DOID:630 genetic disease ISO RGD:1321661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872567 Ccna1 cyclin A1 gene DOID:684 hepatocellular carcinoma ISO RGD:1321661 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619 8872567 Ccna1 cyclin A1 gene DOID:9004207 Testicular Neoplasms ISO RGD:1321661 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis (human) PMID:15800920|REF_RGD_ID:2289152 8872567 Ccna1 cyclin A1 gene DOID:9119 acute myeloid leukemia ISO RGD:1321661 D RGD:9068941 20200609 RGD protein:increased expression:leukocyte (human) PMID:10068680|REF_RGD_ID:2316304 8872589 Cfap97 cilia and flagella associated protein 97 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8872589 Cfap97 cilia and flagella associated protein 97 gene DOID:630 genetic disease ISO RGD:1316452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872589 Cfap97 cilia and flagella associated protein 97 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1316452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8872616 Zhx1 zinc fingers and homeoboxes 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1346071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8872616 Zhx1 zinc fingers and homeoboxes 1 gene DOID:630 genetic disease ISO RGD:1346071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872636 Nol10 nucleolar protein 10 gene DOID:11372 megacolon ISO RGD:1602460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8872636 Nol10 nucleolar protein 10 gene DOID:630 genetic disease ISO RGD:1602460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872680 Eya3 EYA transcriptional coactivator and phosphatase 3 gene DOID:630 genetic disease ISO RGD:1320540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872707 Fcrla Fc receptor like A gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1606206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 8872707 Fcrla Fc receptor like A gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1606206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8872707 Fcrla Fc receptor like A gene DOID:1540 parathyroid carcinoma ISO RGD:1606206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8872707 Fcrla Fc receptor like A gene DOID:630 genetic disease ISO RGD:1606206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872707 Fcrla Fc receptor like A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8872734 Kctd21 potassium channel tetramerization domain containing 21 gene DOID:1059 intellectual disability ISO RGD:1603870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8872734 Kctd21 potassium channel tetramerization domain containing 21 gene DOID:630 genetic disease ISO RGD:1603870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872743 Skor1 SKI family transcriptional corepressor 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8872743 Skor1 SKI family transcriptional corepressor 1 gene DOID:2717 Bloom syndrome ISO RGD:1605497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8872743 Skor1 SKI family transcriptional corepressor 1 gene DOID:9256 colorectal cancer ISO RGD:1605497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8872761 Slc25a47 solute carrier family 25 member 47 gene DOID:10283 prostate cancer ISO RGD:1345966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8872761 Slc25a47 solute carrier family 25 member 47 gene DOID:630 genetic disease ISO RGD:1345966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872761 Slc25a47 solute carrier family 25 member 47 gene DOID:684 hepatocellular carcinoma ISO RGD:1345966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8872779 Avl9 AVL9 cell migration associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8872779 Avl9 AVL9 cell migration associated gene DOID:630 genetic disease ISO RGD:1604629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872779 Avl9 AVL9 cell migration associated gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1604629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8872807 Spink4 serine peptidase inhibitor Kazal type 4 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8872807 Spink4 serine peptidase inhibitor Kazal type 4 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8872807 Spink4 serine peptidase inhibitor Kazal type 4 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8872807 Spink4 serine peptidase inhibitor Kazal type 4 gene DOID:630 genetic disease ISO RGD:1342974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872807 Spink4 serine peptidase inhibitor Kazal type 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342974 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8872807 Spink4 serine peptidase inhibitor Kazal type 4 gene DOID:9870 galactosemia ISO RGD:1342974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8872815 Ppm1m protein phosphatase, Mg2+/Mn2+ dependent 1M gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1602186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8872815 Ppm1m protein phosphatase, Mg2+/Mn2+ dependent 1M gene DOID:630 genetic disease ISO RGD:1602186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872828 Plagl2 PLAG1 like zinc finger 2 gene DOID:630 genetic disease ISO RGD:1317514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872834 Adgra2 adhesion G protein-coupled receptor A2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1312494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8872834 Adgra2 adhesion G protein-coupled receptor A2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1312494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8872834 Adgra2 adhesion G protein-coupled receptor A2 gene DOID:3070 high grade glioma ISO RGD:1312494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8872834 Adgra2 adhesion G protein-coupled receptor A2 gene DOID:607 paraplegia ISO RGD:1312494 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8872834 Adgra2 adhesion G protein-coupled receptor A2 gene DOID:630 genetic disease ISO RGD:1312494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872856 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8872856 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:734413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8872856 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8872856 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:403 mouth disease ISO RGD:734413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 8872856 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:630 genetic disease ISO RGD:734413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872856 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:734413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8872856 Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 gene DOID:9870 galactosemia ISO RGD:734413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8872891 Mfsd3 major facilitator superfamily domain containing 3 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1605597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:28492532 8872891 Mfsd3 major facilitator superfamily domain containing 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1605597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 8872891 Mfsd3 major facilitator superfamily domain containing 3 gene DOID:4621 holoprosencephaly ISO RGD:1605597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8872891 Mfsd3 major facilitator superfamily domain containing 3 gene DOID:630 genetic disease ISO RGD:1605597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:0050830 peripheral artery disease ISO RGD:1348310 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:0060001 withdrawal disorder ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18828811 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:11981 morbid obesity ISO RGD:1348310 D RGD:9068941 20200609 RGD DNA:SNP:CDS:NCBI refSNP IDs=rs1047214, rs2880415 coding for silent Ile variants; Pima Indians, males only PMID:15855352|REF_RGD_ID:1642381 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:12858 Huntington's disease onset ISO RGD:1348310 D RGD:9068941 20200609 RGD DNA:SNP: :rs2234759 (human) PMID:24121255|REF_RGD_ID:10431606 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:1574 alcohol use disorder ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18828811 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:1596 depressive disorder treatment ISO RGD:620475 D RGD:9068941 20200609 RGD PMID:21803058|REF_RGD_ID:10448284 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:1825 childhood absence epilepsy treatment ISO RGD:620475 D RGD:9068941 20200609 RGD PMID:17331209|REF_RGD_ID:10448963 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:1826 epilepsy ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8868293 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:1936 atherosclerosis ISO RGD:1551786 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15716408 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348310 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15337376|REF_RGD_ID:1642609 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:630 genetic disease ISO RGD:1348310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18828811 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620475 D RGD:9068941 20200609 RGD PMID:18201831|REF_RGD_ID:10448967 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:9970 obesity ISO RGD:1348310 D RGD:9068941 20200609 RGD DNA:SNP:promoter:−4448C>A, NCBI refSNP ID=rs12649641; Danish white subjects PMID:17019604|REF_RGD_ID:1642379 8872928 Npy2r neuropeptide Y receptor Y2 gene DOID:9970 obesity ISO RGD:620475 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:17447163|REF_RGD_ID:10448938 8872948 S100a1 S100 calcium binding protein A1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8872948 S100a1 S100 calcium binding protein A1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8872948 S100a1 S100 calcium binding protein A1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8872948 S100a1 S100 calcium binding protein A1 gene DOID:13100 intracranial vasospasm ISO RGD:1349517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 8872948 S100a1 S100 calcium binding protein A1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8872948 S100a1 S100 calcium binding protein A1 gene DOID:5812 MHC class II deficiency ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8872948 S100a1 S100 calcium binding protein A1 gene DOID:630 genetic disease ISO RGD:1349517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872948 S100a1 S100 calcium binding protein A1 gene DOID:9003936 Cardiomegaly ISO RGD:3614 D RGD:9068941 20200609 RGD PMID:12619862|REF_RGD_ID:735233 8872948 S100a1 S100 calcium binding protein A1 gene DOID:9006956 nephrotoxicity treatment ISO RGD:3614 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8872948 S100a1 S100 calcium binding protein A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349517 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:10924368|REF_RGD_ID:1579977 8872948 S100a1 S100 calcium binding protein A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8872960 Cfap184 cilia and flagella associated protein 184 gene DOID:4501 orofaciodigital syndrome ISO RGD:1603873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome 8872960 Cfap184 cilia and flagella associated protein 184 gene DOID:630 genetic disease ISO RGD:1603873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872965 Urb2 URB2 ribosome biogenesis homolog gene DOID:10283 prostate cancer ISO RGD:1346688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8872965 Urb2 URB2 ribosome biogenesis homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1346688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8872965 Urb2 URB2 ribosome biogenesis homolog gene DOID:1826 epilepsy ISO RGD:1346688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 8872965 Urb2 URB2 ribosome biogenesis homolog gene DOID:630 genetic disease ISO RGD:1346688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872965 Urb2 URB2 ribosome biogenesis homolog gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1346688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8872965 Urb2 URB2 ribosome biogenesis homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8872991 Ermn ermin gene DOID:0060041 autism spectrum disorder ISO RGD:1318095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8872991 Ermn ermin gene DOID:630 genetic disease ISO RGD:1318095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872998 Ubac1 UBA domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 8872998 Ubac1 UBA domain containing 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1346576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8872998 Ubac1 UBA domain containing 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1346576 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8872998 Ubac1 UBA domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8872998 Ubac1 UBA domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1346576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8872998 Ubac1 UBA domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1346576 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8872998 Ubac1 UBA domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8872998 Ubac1 UBA domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1346576 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8872998 Ubac1 UBA domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8872998 Ubac1 UBA domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8872998 Ubac1 UBA domain containing 1 gene DOID:630 genetic disease ISO RGD:1346576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8872998 Ubac1 UBA domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1346576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:0080494 ovarian dysgenesis 2 ISO RGD:730933 D RGD:7240710 20180130 OMIM 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:0080494 ovarian dysgenesis 2 ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4 PMID:15136966|PMID:16464940|PMID:16508750|PMID:16645022|PMID:18614612|PMID:19263482|PMID:20364024|PMID:20547206|PMID:25741868|PMID:28492532|PMID:31957178 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:730933 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:730933 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:730933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:730933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22825968 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:12849 autistic disorder ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:13938 amenorrhea ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:730933 D RGD:9068941 20200609 RGD DNA:missense mutations: ;-9C>G, 308A>G, 852C>T PMID:16508750|REF_RGD_ID:1599496 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:730933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:630 genetic disease ISO RGD:730933 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8873020 Bmp15 bone morphogenetic protein 15 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:730933 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human) PMID:22335445|REF_RGD_ID:10045849 8873038 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:0111940 immunodeficiency 42 ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8873038 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8873038 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8873038 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:1540 parathyroid carcinoma ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8873038 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:5812 MHC class II deficiency ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8873038 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:630 genetic disease ISO RGD:1321615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873038 Anp32e acidic nuclear phosphoprotein 32 family member E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8873055 Abhd17c abhydrolase domain containing 17C, depalmitoylase gene DOID:0050726 tyrosinemia type I ISO RGD:1603613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 8873055 Abhd17c abhydrolase domain containing 17C, depalmitoylase gene DOID:2717 Bloom syndrome ISO RGD:1603613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8873055 Abhd17c abhydrolase domain containing 17C, depalmitoylase gene DOID:630 genetic disease ISO RGD:1603613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873055 Abhd17c abhydrolase domain containing 17C, depalmitoylase gene DOID:9256 colorectal cancer ISO RGD:1603613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8873066 Slc6a14 solute carrier family 6 member 14 gene DOID:0050589 inflammatory bowel disease ISO RGD:1561810 D RGD:9068941 20200609 RGD protein:decreased expression:epithelial cell, colon PMID:17065219|REF_RGD_ID:1625272 8873066 Slc6a14 solute carrier family 6 member 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8873066 Slc6a14 solute carrier family 6 member 14 gene DOID:10608 celiac disease ISO RGD:1347984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8873066 Slc6a14 solute carrier family 6 member 14 gene DOID:12849 autistic disorder ISO RGD:1347984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8873066 Slc6a14 solute carrier family 6 member 14 gene DOID:1485 cystic fibrosis ISO RGD:1347984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 8873066 Slc6a14 solute carrier family 6 member 14 gene DOID:630 genetic disease ISO RGD:1347984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873066 Slc6a14 solute carrier family 6 member 14 gene DOID:8437 intestinal obstruction ISO RGD:1347984 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 8873066 Slc6a14 solute carrier family 6 member 14 gene DOID:9002802 Acidoses ISO RGD:1561810 D RGD:9068941 20200609 RGD mRNA:increased expression:jejunum PMID:15300171|REF_RGD_ID:1625278 8873066 Slc6a14 solute carrier family 6 member 14 gene DOID:9005474 Experimental Sarcoma ISO RGD:1561810 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brush border epithelial cell PMID:17006743|REF_RGD_ID:1625275 8873066 Slc6a14 solute carrier family 6 member 14 gene DOID:9970 obesity susceptibility ISO RGD:1347984 D RGD:9068941 20200609 RGD DNA:SNPs PMID:15331564|REF_RGD_ID:1625271 8873090 Psmd7 proteasome 26S subunit, non-ATPase 7 gene DOID:630 genetic disease ISO RGD:1315780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873101 Znf148 zinc finger protein 148 gene DOID:0060041 autism spectrum disorder ISO RGD:732332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8873101 Znf148 zinc finger protein 148 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:732332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8873101 Znf148 zinc finger protein 148 gene DOID:630 genetic disease ISO RGD:732332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12840224|PMID:27964749|PMID:28492532 8873101 Znf148 zinc finger protein 148 gene DOID:9005641 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES ISO RGD:732332 D RGD:7240710 20190315 OMIM 8873101 Znf148 zinc finger protein 148 gene DOID:9005641 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES ISO RGD:732332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | ClinVar Annotator: match by term: ZNF148-related condition PMID:12840224|PMID:25741868|PMID:27964749 8873101 Znf148 zinc finger protein 148 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:732332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 8873101 Znf148 zinc finger protein 148 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:732332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8873101 Znf148 zinc finger protein 148 gene DOID:9270 alkaptonuria ISO RGD:732332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8873124 Cfap161 cilia and flagella associated protein 161 gene DOID:2717 Bloom syndrome ISO RGD:1321239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8873124 Cfap161 cilia and flagella associated protein 161 gene DOID:630 genetic disease ISO RGD:1321239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873124 Cfap161 cilia and flagella associated protein 161 gene DOID:9256 colorectal cancer ISO RGD:1321239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8873135 Itprip inositol 1,4,5-trisphosphate receptor interacting protein gene DOID:630 genetic disease ISO RGD:1344498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873158 Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 gene DOID:0070156 hereditary sensory neuropathy type 1D ISO RGD:1346481 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1D PMID:25741868|PMID:26467025|PMID:28492532 8873158 Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1346481 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8873158 Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 gene DOID:630 genetic disease ISO RGD:1346481 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8873193 Itsn1 intersectin 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8873193 Itsn1 intersectin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:737072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8873193 Itsn1 intersectin 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8873193 Itsn1 intersectin 1 gene DOID:0080600 COVID-19 ISO RGD:737072 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8873193 Itsn1 intersectin 1 gene DOID:1184 nephrotic syndrome ISO RGD:737072 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:29773874 8873193 Itsn1 intersectin 1 gene DOID:12849 autistic disorder ISO RGD:737072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 8873193 Itsn1 intersectin 1 gene DOID:1826 epilepsy ISO RGD:737072 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure PMID:25741868 8873193 Itsn1 intersectin 1 gene DOID:630 genetic disease ISO RGD:737072 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:34707297 8873193 Itsn1 intersectin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8873193 Itsn1 intersectin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8873193 Itsn1 intersectin 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:737072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8873193 Itsn1 intersectin 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:737072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8873255 Dnhd1 dynein heavy chain domain 1 gene DOID:0112354 spermatogenic failure 65 ISO RGD:1601824 D RGD:7240710 20220202 OMIM 8873255 Dnhd1 dynein heavy chain domain 1 gene DOID:0112354 spermatogenic failure 65 ISO RGD:1601824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DNHD1-related condition | ClinVar Annotator: match by term: Spermatogenic failure 65 PMID:25741868|PMID:28492532|PMID:33279834|PMID:34932939 8873255 Dnhd1 dynein heavy chain domain 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1601824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8873255 Dnhd1 dynein heavy chain domain 1 gene DOID:4450 renal cell carcinoma ISO RGD:1601824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8873255 Dnhd1 dynein heavy chain domain 1 gene DOID:4990 essential tremor ISO RGD:1601824 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:25741868|PMID:28492532|PMID:33279834 8873255 Dnhd1 dynein heavy chain domain 1 gene DOID:630 genetic disease ISO RGD:1601824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8873255 Dnhd1 dynein heavy chain domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601824 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: DNHD1-related Neurodevelopmental Disorder 8873255 Dnhd1 dynein heavy chain domain 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1601824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8873335 Dipk1b divergent protein kinase domain 1B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8873335 Dipk1b divergent protein kinase domain 1B gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8873335 Dipk1b divergent protein kinase domain 1B gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8873335 Dipk1b divergent protein kinase domain 1B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8873335 Dipk1b divergent protein kinase domain 1B gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602652 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8873335 Dipk1b divergent protein kinase domain 1B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602652 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8873335 Dipk1b divergent protein kinase domain 1B gene DOID:0081097 Rafiq syndrome ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8873335 Dipk1b divergent protein kinase domain 1B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602652 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8873335 Dipk1b divergent protein kinase domain 1B gene DOID:1826 epilepsy ISO RGD:1602652 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8873335 Dipk1b divergent protein kinase domain 1B gene DOID:3652 Leigh disease ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8873335 Dipk1b divergent protein kinase domain 1B gene DOID:630 genetic disease ISO RGD:1602652 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873335 Dipk1b divergent protein kinase domain 1B gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1323582 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1323582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:0080600 COVID-19 ISO RGD:1323582 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:12849 autistic disorder ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:14330 Parkinson's disease ISO RGD:1323582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27957685 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:224 transient cerebral ischemia ISO RGD:1311889 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:16777714|REF_RGD_ID:10003026 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:3312 bipolar disorder ISO RGD:1323582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23602965 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:630 genetic disease ISO RGD:1323582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1323582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:9000998 Brain Injuries ISO RGD:1311889 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex, hippocampus PMID:20309649|REF_RGD_ID:9999437 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1558477 D RGD:9068941 20200609 RGD PMID:24569808|REF_RGD_ID:9999438 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:9263 homocystinuria ISO RGD:1323582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8873342 Trpm2 transient receptor potential cation channel subfamily M member 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323582 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8873382 Dusp2 dual specificity phosphatase 2 gene DOID:0080600 COVID-19 ISO RGD:1314060 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8873382 Dusp2 dual specificity phosphatase 2 gene DOID:1059 intellectual disability ISO RGD:1314060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8873382 Dusp2 dual specificity phosphatase 2 gene DOID:5419 schizophrenia ISO RGD:1314060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8873382 Dusp2 dual specificity phosphatase 2 gene DOID:630 genetic disease ISO RGD:1314060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873382 Dusp2 dual specificity phosphatase 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314060 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8873400 Matn3 matrilin 3 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1312907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome PMID:25741868|PMID:28492532 8873400 Matn3 matrilin 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1312907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:25741868|PMID:28492532 8873400 Matn3 matrilin 3 gene DOID:0070299 multiple epiphyseal dysplasia 5 ISO RGD:1312907 D RGD:7240710 20240221 OMIM 8873400 Matn3 matrilin 3 gene DOID:0070299 multiple epiphyseal dysplasia 5 ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY | ClinVar Annotator: match by term: Microepiphyseal dysplasia, bilateral hereditary | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, MATN3-related PMID:11479597|PMID:12736871|PMID:12884427|PMID:13849708|PMID:14729835|PMID:15459972|PMID:15948199|PMID:16199550|PMID:16287128|PMID:17517694|PMID:18205203|PMID:18518980|PMID:20301302|PMID:20428984|PMID:21922596|PMID:21965141|PMID:25741868|PMID:28146470|PMID:28492532|PMID:30080953|PMID:31724101 8873400 Matn3 matrilin 3 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1312907 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 PMID:25741868|PMID:28492532 8873400 Matn3 matrilin 3 gene DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ISO RGD:1312907 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly PMID:25741868|PMID:28492532 8873400 Matn3 matrilin 3 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11479597|PMID:14729835|PMID:15459972|PMID:15948199|PMID:16199550|PMID:16287128|PMID:17517694|PMID:18205203|PMID:18518980|PMID:20301302|PMID:20428984|PMID:21922596|PMID:21965141|PMID:25741868|PMID:28492532|PMID:31724101|PMID:34092239 8873400 Matn3 matrilin 3 gene DOID:2256 osteochondrodysplasia ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:11479597|PMID:14729835|PMID:15459972|PMID:15948199|PMID:16199550|PMID:16287128|PMID:17517694|PMID:18205203|PMID:18518980|PMID:20301302|PMID:20428984|PMID:21922596|PMID:21965141|PMID:25741868|PMID:28492532|PMID:31724101|PMID:34092239 8873400 Matn3 matrilin 3 gene DOID:630 genetic disease ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8873400 Matn3 matrilin 3 gene DOID:65 connective tissue disease ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:12736871|PMID:14729835|PMID:25741868|PMID:28146470|PMID:28492532 8873400 Matn3 matrilin 3 gene DOID:8398 osteoarthritis ISO RGD:1312907 D RGD:7240710 20240221 OMIM 8873400 Matn3 matrilin 3 gene DOID:8398 osteoarthritis ISO RGD:1312907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis susceptibility 2 PMID:12736871|PMID:14729835|PMID:25741868|PMID:28492532 8873400 Matn3 matrilin 3 gene DOID:9007064 Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type ISO RGD:1312907 D RGD:7240710 20240221 OMIM 8873400 Matn3 matrilin 3 gene DOID:9007064 Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type ISO RGD:1312907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, MATN3-related PMID:14729835|PMID:15121775|PMID:15459972|PMID:20301302|PMID:21965141|PMID:25741868|PMID:28492532|PMID:31724101 8873421 Aldh1b1 aldehyde dehydrogenase 1 family member B1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 8873421 Aldh1b1 aldehyde dehydrogenase 1 family member B1 gene DOID:13580 cholestasis ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8873421 Aldh1b1 aldehyde dehydrogenase 1 family member B1 gene DOID:630 genetic disease ISO RGD:1315525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873421 Aldh1b1 aldehyde dehydrogenase 1 family member B1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968|PMID:25380136 8873421 Aldh1b1 aldehyde dehydrogenase 1 family member B1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25641190 8873421 Aldh1b1 aldehyde dehydrogenase 1 family member B1 gene DOID:9005369 Hepatomegaly ISO RGD:1315525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8873433 Ube2z ubiquitin conjugating enzyme E2 Z gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1606510 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8873433 Ube2z ubiquitin conjugating enzyme E2 Z gene DOID:630 genetic disease ISO RGD:1606510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873443 Inha inhibin subunit alpha gene DOID:0111545 familial male-limited precocious puberty ISO RGD:736727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16684832 8873443 Inha inhibin subunit alpha gene DOID:10283 prostate cancer ISO RGD:736727 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:malignant tumors PMID:9506758|REF_RGD_ID:2290384 8873443 Inha inhibin subunit alpha gene DOID:10286 prostate carcinoma ISO RGD:736727 D RGD:9068941 20200609 RGD DNA:hypermethylation,loss of heterozygosity:promoter,genomic region:significant hypermethylation (P<0.001) in tumors vs nonmalignant controls, LOH at 2q32-36 in 42% of cases PMID:11818495|REF_RGD_ID:2290381 8873443 Inha inhibin subunit alpha gene DOID:1148 polydactyly ISO RGD:736727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8873443 Inha inhibin subunit alpha gene DOID:192 sex cord-gonadal stromal tumor susceptibility ISO RGD:10808 D RGD:9068941 20200609 RGD PMID:8090730|REF_RGD_ID:2301690 8873443 Inha inhibin subunit alpha gene DOID:2696 Leydig cell tumor ISO RGD:2912 D RGD:9068941 20200609 RGD protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats PMID:11545298|REF_RGD_ID:2290379 8873443 Inha inhibin subunit alpha gene DOID:2997 Sertoli-Leydig cell tumor ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumor:focal expression in Sertoli cells, stronger diffuse expression in Leydig cells PMID:17414107|REF_RGD_ID:2290367 8873443 Inha inhibin subunit alpha gene DOID:3008 invasive ductal carcinoma ISO RGD:736727 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significantly lower in invasive, infiltrating and metastatic tumors than in ductal carcinoma in situ tumors PMID:15583806|REF_RGD_ID:2290390 8873443 Inha inhibin subunit alpha gene DOID:3308 embryonal carcinoma ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:11720904|REF_RGD_ID:2290380 8873443 Inha inhibin subunit alpha gene DOID:3577 Sertoli cell tumor ISO RGD:10808 D RGD:9068941 20200609 RGD reexpression in tumor derived cells eliminates the transformed phenotype PMID:10602485|REF_RGD_ID:2290369 8873443 Inha inhibin subunit alpha gene DOID:4440 seminoma ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:11720904|REF_RGD_ID:2290380 8873443 Inha inhibin subunit alpha gene DOID:4441 dysgerminoma ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumor PMID:11720904|REF_RGD_ID:2290380 8873443 Inha inhibin subunit alpha gene DOID:5426 primary ovarian insufficiency ISO RGD:736727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:24033266|PMID:25741868 8873443 Inha inhibin subunit alpha gene DOID:630 genetic disease ISO RGD:736727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873443 Inha inhibin subunit alpha gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:736727 D RGD:9068941 20200609 RGD DNA:SNP PMID:18413775|REF_RGD_ID:2301687 8873443 Inha inhibin subunit alpha gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:2912 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:11431143|REF_RGD_ID:8694089 8873443 Inha inhibin subunit alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:736727 D RGD:9068941 20200609 RGD protein:increased expression:tumors PMID:10435065|REF_RGD_ID:2290383 8873443 Inha inhibin subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:736727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8873443 Inha inhibin subunit alpha gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736727 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significantly higher in normal compared to malignant tissue PMID:17143484|REF_RGD_ID:2290368 8873443 Inha inhibin subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8873443 Inha inhibin subunit alpha gene DOID:9007715 Endometrial Neoplasms ISO RGD:736727 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15745937|REF_RGD_ID:1579943 8873474 Fes FES proto-oncogene, tyrosine kinase gene DOID:0050671 female breast cancer onset ISO RGD:1319653 D RGD:9068941 20220811 RGD PMID:15867340|REF_RGD_ID:153323296 8873474 Fes FES proto-oncogene, tyrosine kinase gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1319652 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8873474 Fes FES proto-oncogene, tyrosine kinase gene DOID:2717 Bloom syndrome ISO RGD:1319652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8873474 Fes FES proto-oncogene, tyrosine kinase gene DOID:3393 coronary artery disease ISO RGD:1319652 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8873474 Fes FES proto-oncogene, tyrosine kinase gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1319652 D RGD:9068941 20220811 RGD DNA:hypermethylation: (human) PMID:24936140|REF_RGD_ID:153323298 8873474 Fes FES proto-oncogene, tyrosine kinase gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1319652 D RGD:9068941 20220811 RGD human cells in a mouse model PMID:31573955|REF_RGD_ID:153323295 8873474 Fes FES proto-oncogene, tyrosine kinase gene DOID:630 genetic disease ISO RGD:1319652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873474 Fes FES proto-oncogene, tyrosine kinase gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1319652 D RGD:9068941 20220811 RGD DNA:hypermethylation:promoter (human) PMID:31038805|REF_RGD_ID:153323297 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0060538 purpura fulminans ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18376272 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0060903 thrombosis ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11132655|PMID:18376272|PMID:8967151|PMID:9164807 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0060903 thrombosis treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:8073406|REF_RGD_ID:11250413 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:737321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111220 centronuclear myopathy 2 ISO RGD:737321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:25196808|REF_RGD_ID:11099994 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:7240710 20180130 OMIM 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive PMID:10669160|PMID:10805275|PMID:10942114|PMID:11336399|PMID:1301954|PMID:1301959|PMID:1347608|PMID:1347706|PMID:1348046|PMID:14642106|PMID:1464619|PMID:1498334|PMID:1511988|PMID:1511989|PMID:1593215|PMID:1678832|PMID:17152060|PMID:17649706|PMID:1771629|PMID:18573519|PMID:1868249|PMID:18954896|PMID:19535131|PMID:20815936|PMID:21621249|PMID:21744130|PMID:21901152|PMID:22627591|PMID:23174622|PMID:24051141|PMID:24103874|PMID:24162787|PMID:24782131|PMID:24796542|PMID:24911457|PMID:25393254|PMID:25525159|PMID:25533856|PMID:25637381|PMID:25648792|PMID:25741868|PMID:25748729|PMID:2602169|PMID:27172833|PMID:27517348|PMID:28111891|PMID:28492532|PMID:28607330|PMID:31064749|PMID:31254973|PMID:31821907|PMID:3185623|PMID:31980526|PMID:32717757|PMID:34355501|PMID:35112923|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7740502|PMID:7792728|PMID:7795150|PMID:7865674|PMID:8128429|PMID:8136274|PMID:8165644|PMID:8324221|PMID:8446940|PMID:8477066|PMID:8499565|PMID:8499568|PMID:8505327|PMID:8807339|PMID:8845458|PMID:8883262|PMID:9798967 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:7240710 20180613 OMIM 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:737321 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:10669160|PMID:10805275|PMID:10942114|PMID:11336399|PMID:11380450|PMID:1301954|PMID:1301959|PMID:1347608|PMID:14642106|PMID:1464619|PMID:1469096|PMID:1498334|PMID:1511988|PMID:1511989|PMID:1593215|PMID:16199547|PMID:16867987|PMID:17152060|PMID:17576681|PMID:17635713|PMID:17649706|PMID:1771629|PMID:18573519|PMID:1868249|PMID:18954896|PMID:19535131|PMID:20815936|PMID:21621249|PMID:21744130|PMID:21901152|PMID:22353194|PMID:22425321|PMID:22545135|PMID:22576310|PMID:22627591|PMID:22817391|PMID:22944127|PMID:22951146|PMID:23174622|PMID:23332921|PMID:23389250|PMID:24028705|PMID:24051141|PMID:24103874|PMID:24122877|PMID:24162787|PMID:24300144|PMID:2437584|PMID:24782131|PMID:24911457|PMID:25039884|PMID:25393254|PMID:25525159|PMID:25533856|PMID:25637381|PMID:25648792|PMID:25712501|PMID:25741868|PMID:25748729|PMID:2602169|PMID:26250584|PMID:27081530|PMID:27172833|PMID:27517348|PMID:2783855|PMID:27838551|PMID:27995882|PMID:28111891|PMID:28174134|PMID:28468828|PMID:28492532|PMID:28607330|PMID:29356699|PMID:29536478|PMID:2991887|PMID:30439769|PMID:30632992|PMID:31064749|PMID:31254973|PMID:31295762|PMID:31521534|PMID:31592240|PMID:31821907|PMID:3185623|PMID:31980526|PMID:32717757|PMID:34355501|PMID:34650936|PMID:35026611|PMID:35112923|PMID:6589623|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7740502|PMID:7792728|PMID:7795150|PMID:7831652|PMID:7841324|PMID:7865674|PMID:7881411|PMID:7894031|PMID:7913773|PMID:7951255|PMID:8093743|PMID:8128429|PMID:8136274|PMID:8165644|PMID:8218861|PMID:8292730|PMID:8324221|PMID:8400292|PMID:8446940|PMID:8462980|PMID:8477066|PMID:8499565|PMID:8499568|PMID:8505327|PMID:8639775|PMID:8704244|PMID:8807339|PMID:8845458|PMID:8883262|PMID:8972002|PMID:9536098|PMID:9553065|PMID:9683579|PMID:9798967|PMID:9840027 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10159 osteonecrosis ISO RGD:737321 D RGD:9068941 20200625 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) PMID:16547717|PMID:16677567|REF_RGD_ID:30309948|REF_RGD_ID:30309951 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10591 pre-eclampsia ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:9065198|REF_RGD_ID:11564336 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10763 hypertension ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10936861|REF_RGD_ID:11100014 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:11247 disseminated intravascular coagulation ISO RGD:11161 D RGD:9068941 20200609 RGD PMID:9788960|REF_RGD_ID:11099993 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:11247 disseminated intravascular coagulation ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18376272 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10936861|REF_RGD_ID:11100014 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:1247 blood coagulation disease ISO RGD:11161 D RGD:9068941 20200609 RGD PMID:19333141|REF_RGD_ID:11100017 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:14115 toxic shock syndrome ISO RGD:11161 D RGD:9068941 20200609 RGD PMID:19320827|REF_RGD_ID:11100015 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:14115 toxic shock syndrome treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:21850534|REF_RGD_ID:11100041 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:1969 cerebral palsy ISO RGD:737321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:1347706|PMID:24796542|PMID:25741868|PMID:31064749 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2450 central retinal vein occlusion treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:20688738|REF_RGD_ID:11100028 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2452 thrombophilia ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:7881411|REF_RGD_ID:1581278 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2452 thrombophilia ISO RGD:737321 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutation:cds:p.R306X, p.W402C (human) PMID:2437584|REF_RGD_ID:1578514 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2452 thrombophilia ISO RGD:737321 D RGD:9068941 20200609 RGD associated with Infertility, Female PMID:24189967|REF_RGD_ID:11099991 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2841 asthma treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:26381519|REF_RGD_ID:11099992 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:2988 antiphospholipid syndrome ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:25196808|REF_RGD_ID:11099994 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3021 acute kidney failure treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:19092124|REF_RGD_ID:11250410 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:11161 D RGD:9068941 20200609 RGD PMID:24159062|REF_RGD_ID:11100027 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3526 cerebral infarction ISO RGD:737321 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33761690 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.A259T (8490G>A) (human) PMID:11434940|REF_RGD_ID:11099984 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R87H (3203G>A) (human) PMID:8845458|REF_RGD_ID:11099985 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L223F, p.I403M (human) PMID:8128429|REF_RGD_ID:1578392 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:3756 protein C deficiency ISO RGD:737321 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14707701|PMID:18376272|PMID:21445774|PMID:33761690 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:5844 myocardial infarction ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10936861|REF_RGD_ID:11100014 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:630 genetic disease ISO RGD:737321 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18954896|PMID:21621249|PMID:25712501|PMID:25741868|PMID:27081530|PMID:28111891|PMID:28492532|PMID:7670104|PMID:8218861 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10903607|REF_RGD_ID:11100044 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002159 Liver Reperfusion Injury ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:12605111|REF_RGD_ID:11100021 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:18507760|REF_RGD_ID:11100046 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002564 Arteritis ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17139375 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:25108045|REF_RGD_ID:11100045 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003121 Thromboembolism ISO RGD:737321 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:1868249|PMID:22627591|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32717757|PMID:35112923|PMID:7482420|PMID:8093743|PMID:8845458 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003505 Venous Thromboembolism ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21445774|PMID:9149031 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003505 Venous Thromboembolism ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:11434940|PMID:24162787|REF_RGD_ID:11099984|REF_RGD_ID:11099988 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9003871 Venous Thrombosis ISO RGD:737321 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Deep vein thrombosis | ClinVar Annotator: match by term: Deep venous thrombosis PMID:17152060|PMID:1868249|PMID:25741868|PMID:28492532|PMID:31064749|PMID:31254973|PMID:32717757|PMID:34355501|PMID:35112923|PMID:7482420|PMID:8128429|PMID:8499565|PMID:8845458 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004484 Sepsis ISO RGD:737321 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11820775|PMID:17556722 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004484 Sepsis disease_progression ISO RGD:3411 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver, plasma PMID:15241104|REF_RGD_ID:11250412 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004484 Sepsis treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:22940033|REF_RGD_ID:11100029 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004610 Acute Lung Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD associated with Intestinal Reperfusion Injury PMID:18367148|REF_RGD_ID:11250405 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004610 Acute Lung Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD associated with Pseudomonas Infections PMID:16553944|REF_RGD_ID:11100043 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9004649 Heat Stroke treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:16715032|REF_RGD_ID:11250411 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9005930 Endotoxemia treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:18205901|PMID:23170801|REF_RGD_ID:11100030|REF_RGD_ID:11100034 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9006363 Congenital Thrombotic Disease, due to Protein C Deficiency ISO RGD:737321 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Reduced protein C activity PMID:10805275|PMID:10942114|PMID:1301954|PMID:1301959|PMID:1511988|PMID:1511989|PMID:17152060|PMID:18573519|PMID:1868249|PMID:18954896|PMID:21621249|PMID:22545135|PMID:22627591|PMID:22817391|PMID:22944127|PMID:23332921|PMID:23389250|PMID:24028705|PMID:24162787|PMID:25637381|PMID:25741868|PMID:2602169|PMID:28111891|PMID:28492532|PMID:28607330|PMID:31064749|PMID:31254973|PMID:3185623|PMID:31980526|PMID:32717757|PMID:34355501|PMID:6589623|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7792728|PMID:7865674|PMID:8128429|PMID:8165644|PMID:8292730|PMID:8462980|PMID:8499565|PMID:8704244|PMID:8807339|PMID:9798967 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:19782612|REF_RGD_ID:11100035 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9007456 Female Infertility ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:24189967|REF_RGD_ID:11099991 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:19680809|REF_RGD_ID:11100040 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:15187522|REF_RGD_ID:11250409 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9477 pulmonary embolism ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:10936861|REF_RGD_ID:11100014 8873519 Proc protein C, inactivator of coagulation factors Va and VIIIa gene DOID:9667 placental abruption susceptibility ISO RGD:737321 D RGD:9068941 20200609 RGD PMID:9855597|REF_RGD_ID:11564329 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:0050589 inflammatory bowel disease ISO RGD:734174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very early onset inflammatory bowel disease PMID:10440830|PMID:19388116|PMID:25741868|PMID:28492532|PMID:30709874|PMID:3368442|PMID:9445163 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:0050848 obstructive sleep apnea severity ISO RGD:734174 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:sputum, macrophage, neutrophil PMID:20367952|REF_RGD_ID:4266589 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:734174 D RGD:7240710 20180130 OMIM 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:734174 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10440830|PMID:10759707|PMID:10910929|PMID:10914676|PMID:12073015|PMID:1415254|PMID:16199547|PMID:16937026|PMID:17576681|PMID:1763037|PMID:18422995|PMID:18546332|PMID:19292887|PMID:19388116|PMID:19949658|PMID:20167518|PMID:20674832|PMID:21190454|PMID:22336310|PMID:2243141|PMID:22562447|PMID:22876374|PMID:22924696|PMID:23002911|PMID:23910690|PMID:25741868|PMID:26185101|PMID:26915675|PMID:26936803|PMID:27537055|PMID:27701760|PMID:27980538|PMID:28251166|PMID:28341171|PMID:28492532|PMID:28941186|PMID:29454792|PMID:29560547|PMID:30470980|PMID:30709874|PMID:30716179|PMID:31364312|PMID:31375816|PMID:31456102|PMID:32040803|PMID:32081864|PMID:3368442|PMID:33717137|PMID:34547651|PMID:3571224|PMID:36606663|PMID:4384563|PMID:8168815|PMID:9445163|PMID:9536098 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:734174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:28492532 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:734174 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:0111922 spermatogenic failure 31 ISO RGD:734174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYBA DEFICIENCY PMID:10440830|PMID:19388116|PMID:25741868|PMID:28492532|PMID:30709874|PMID:3368442|PMID:9445163 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:1074 kidney failure ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23325087 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:10763 hypertension ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:17109653|REF_RGD_ID:4775206 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:10763 hypertension ISO RGD:620573 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:20018820|REF_RGD_ID:2317853 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:10763 hypertension ISO RGD:734174 D RGD:9068941 20200609 RGD PMID:12729892|REF_RGD_ID:1580276 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:10763 hypertension ISO RGD:734174 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:16685210|PMID:17324946|PMID:20505675|PMID:32147540 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:10825 essential hypertension ISO RGD:734174 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:114 heart disease ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:13406 pulmonary sarcoidosis no_association ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) PMID:16608528|REF_RGD_ID:4780358 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:14780 KBG syndrome ISO RGD:734174 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:1936 atherosclerosis ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:2841 asthma susceptibility ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:SNPs: :-930A>G, 242C>T, 640A>G (human) PMID:18716406|REF_RGD_ID:4772770 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:2841 asthma susceptibility ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:polymorphism: :-930A>G (human) PMID:19459419|REF_RGD_ID:4311041 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:2957 pulmonary tuberculosis no_association ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human) PMID:16608528|REF_RGD_ID:4780358 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.H72Y (human) PMID:19567155|REF_RGD_ID:4304108 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-930A>G, 242C>T (human) PMID:20080081|REF_RGD_ID:4293707 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:3262 phagocyte bactericidal dysfunction ISO RGD:734174 D RGD:9068941 20200609 RGD DNA:mutations: :multiple (human) PMID:18422995|REF_RGD_ID:4779762 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:3265 chronic granulomatous disease ISO RGD:734174 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:10440830|PMID:10759707|PMID:10910929|PMID:1415254|PMID:16199547|PMID:17576681|PMID:1763037|PMID:19292887|PMID:19388116|PMID:19949658|PMID:20167518|PMID:20674832|PMID:21190454|PMID:22336310|PMID:2243141|PMID:22876374|PMID:22924696|PMID:25741868|PMID:26185101|PMID:26936803|PMID:27537055|PMID:27701760|PMID:28341171|PMID:28492532|PMID:29454792|PMID:30709874|PMID:31456102|PMID:32040803|PMID:32081864|PMID:3368442|PMID:33717137|PMID:34547651|PMID:36606663|PMID:8168815|PMID:9445163|PMID:9536098 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:3393 coronary artery disease ISO RGD:734174 D RGD:9068941 20200609 RGD PMID:14709372|REF_RGD_ID:1578443 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:5082 liver cirrhosis ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:5844 myocardial infarction ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA:increase expression:ventricle myocardium: PMID:11243862|REF_RGD_ID:1599690 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:5844 myocardial infarction ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:18762777|REF_RGD_ID:2317860 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:630 genetic disease ISO RGD:734174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:6432 pulmonary hypertension ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:18424632|REF_RGD_ID:4773907 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:6432 pulmonary hypertension ISO RGD:734175 D RGD:9068941 20200609 RGD associated with Anoxia;mRNA, protein:increased expression:lung PMID:18952568|REF_RGD_ID:4762683 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:783 end stage renal disease ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:19420110|REF_RGD_ID:2306994 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:783 end stage renal disease ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:8947 diabetic retinopathy ISO RGD:620573 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19685553|REF_RGD_ID:2317854 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9000039 Spinal Cord Injuries ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:16345062|REF_RGD_ID:1599510 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9000528 Coronary Disease ISO RGD:734174 D RGD:9068941 20200609 RGD PMID:10488959|REF_RGD_ID:1580275 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9001371 Eosinophilia ISO RGD:620573 D RGD:9068941 20200609 RGD DNA:deletion:splice junction: PMID:19406829|REF_RGD_ID:11040542 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9001371 Eosinophilia ISO RGD:620573 D RGD:9068941 20201211 RGD PMID:20660993|PMID:21512270|REF_RGD_ID:5134976|REF_RGD_ID:5134988 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:734174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :242C>T (human) PMID:14747204|REF_RGD_ID:8695982 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:734174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9004009 Reperfusion Injury ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:15148062|REF_RGD_ID:1599683 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9005369 Hepatomegaly ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:20226688|REF_RGD_ID:2317852 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620573 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas: PMID:23905384|REF_RGD_ID:11040693 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11812764|PMID:12967931 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9006646 Metabolic Syndrome ISO RGD:620573 D RGD:9068941 20200609 RGD PMID:16741160|REF_RGD_ID:2317864 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9352 type 2 diabetes mellitus ISO RGD:734174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 8873541 LOC102004641 cytochrome b-245 light chain gene DOID:9952 acute lymphoblastic leukemia ISO RGD:734174 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell: PMID:19222940|REF_RGD_ID:11040545 8873551 Slc39a14 solute carrier family 39 member 14 gene DOID:0060496 respiratory allergy ISO RGD:1315975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085522 8873551 Slc39a14 solute carrier family 39 member 14 gene DOID:0060900 Parkinson's disease 14 ISO RGD:1315975 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36152728 8873551 Slc39a14 solute carrier family 39 member 14 gene DOID:0080537 hypermanganesemia with dystonia 2 ISO RGD:1315975 D RGD:7240710 20190315 OMIM 8873551 Slc39a14 solute carrier family 39 member 14 gene DOID:0080537 hypermanganesemia with dystonia 2 ISO RGD:1315975 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypermanganesemia with dystonia 2 | ClinVar Annotator: match by term: SLC39A14-related condition PMID:25741868|PMID:27431290|PMID:28492532|PMID:28541650|PMID:29498153|PMID:29685658|PMID:30232769|PMID:32626807 8873551 Slc39a14 solute carrier family 39 member 14 gene DOID:630 genetic disease ISO RGD:1315975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29498153 8873551 Slc39a14 solute carrier family 39 member 14 gene DOID:9000304 Manganese Poisoning ISO RGD:1315975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28860195 8873551 Slc39a14 solute carrier family 39 member 14 gene DOID:9000831 Hypokinesia ISO RGD:1315975 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36152728 8873551 Slc39a14 solute carrier family 39 member 14 gene DOID:9005053 Hyperostosis Cranialis Interna ISO RGD:1315975 D RGD:7240710 20200624 OMIM 8873551 Slc39a14 solute carrier family 39 member 14 gene DOID:9005053 Hyperostosis Cranialis Interna ISO RGD:1315975 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperostosis cranialis interna PMID:2300107|PMID:25741868|PMID:28492532|PMID:29621230 8873551 Slc39a14 solute carrier family 39 member 14 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1315975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8873585 Triml2 tripartite motif family like 2 gene DOID:12849 autistic disorder ISO RGD:1602827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8873585 Triml2 tripartite motif family like 2 gene DOID:2229 factor XI deficiency ISO RGD:1602827 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 8873585 Triml2 tripartite motif family like 2 gene DOID:630 genetic disease ISO RGD:1602827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873585 Triml2 tripartite motif family like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8873594 Znf397 zinc finger protein 397 gene DOID:1059 intellectual disability ISO RGD:1314512 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8873594 Znf397 zinc finger protein 397 gene DOID:630 genetic disease ISO RGD:1314512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873626 Tbx2 T-box transcription factor 2 gene DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction ISO RGD:1322243 D RGD:7240710 20190626 OMIM 8873626 Tbx2 T-box transcription factor 2 gene DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction ISO RGD:1322243 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vertebral anomalies and variable endocrine and T-cell dysfunction PMID:25741868|PMID:28492532|PMID:29726930 8873626 Tbx2 T-box transcription factor 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1322243 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8873626 Tbx2 T-box transcription factor 2 gene DOID:10907 microcephaly ISO RGD:1322243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8873626 Tbx2 T-box transcription factor 2 gene DOID:11372 megacolon ISO RGD:1322243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8873626 Tbx2 T-box transcription factor 2 gene DOID:1681 heart septal defect ISO RGD:1322243 D RGD:9068941 20230824 RGD DNA:SNP:promoter:rs4455026(c.‐1028G>C)(human) PMID:30525309|REF_RGD_ID:401794416 8873626 Tbx2 T-box transcription factor 2 gene DOID:1681 heart septal defect susceptibility ISO RGD:1322243 D RGD:9068941 20230824 RGD DNA:SNP:3'UTR:rs59382073(human) PMID:30262811|REF_RGD_ID:401794414 8873626 Tbx2 T-box transcription factor 2 gene DOID:1882 atrial heart septal defect ISO RGD:1322243 D RGD:9068941 20230824 RGD DNA:SNP:promoter:rs4455026(c.‐1028G>C)(human) PMID:30525309|REF_RGD_ID:401794416 8873626 Tbx2 T-box transcription factor 2 gene DOID:3393 coronary artery disease ISO RGD:1322243 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35590109 8873626 Tbx2 T-box transcription factor 2 gene DOID:630 genetic disease ISO RGD:1322243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29726930 8873626 Tbx2 T-box transcription factor 2 gene DOID:769 neuroblastoma ISO RGD:1322243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 8873626 Tbx2 T-box transcription factor 2 gene DOID:9007182 Right Ventricular Outflow Obstruction ISO RGD:1322243 D RGD:9068941 20230824 RGD DNA:SNP:promoter:rs4455026(c.‐1028G>C)(human) PMID:30525309|REF_RGD_ID:401794416 8873626 Tbx2 T-box transcription factor 2 gene DOID:9007182 Right Ventricular Outflow Obstruction susceptibility ISO RGD:1322243 D RGD:9068941 20230824 RGD DNA:SNP:3'UTR:rs59382073(human) PMID:30262811|REF_RGD_ID:401794414 8873626 Tbx2 T-box transcription factor 2 gene DOID:9007373 Left Ventricular Outflow Obstruction susceptibility ISO RGD:1322243 D RGD:9068941 20230824 RGD DNA:SNP:3'UTR:rs59382073(human) PMID:30262811|REF_RGD_ID:401794414 8873626 Tbx2 T-box transcription factor 2 gene DOID:9007617 Conotruncal Cardiac Defects susceptibility ISO RGD:1322243 D RGD:9068941 20230824 RGD DNA:SNP:3'UTR:rs59382073(human) PMID:30262811|REF_RGD_ID:401794414 8873637 Dock7 dedicator of cytokinesis 7 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1352133 D RGD:7240710 20180130 OMIM 8873637 Dock7 dedicator of cytokinesis 7 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1352133 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:16199547|PMID:17576681|PMID:22247256|PMID:24814191|PMID:25363768|PMID:25741868|PMID:26467025|PMID:28385496|PMID:28492532|PMID:31175295|PMID:31785789|PMID:9536098 8873637 Dock7 dedicator of cytokinesis 7 gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:1352133 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 PMID:19075393|PMID:20942659|PMID:22062970|PMID:22247256|PMID:25741868|PMID:28492532|PMID:32041611 8873637 Dock7 dedicator of cytokinesis 7 gene DOID:0111376 fetal akinesia deformation sequence syndrome 3 ISO RGD:1352133 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 PMID:25741868 8873637 Dock7 dedicator of cytokinesis 7 gene DOID:1059 intellectual disability ISO RGD:1352133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8873637 Dock7 dedicator of cytokinesis 7 gene DOID:1826 epilepsy ISO RGD:1352133 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8873637 Dock7 dedicator of cytokinesis 7 gene DOID:2223 platelet storage pool deficiency ISO RGD:1320319 D RGD:9068941 20220825 MouseDO OMIM:185050 8873637 Dock7 dedicator of cytokinesis 7 gene DOID:630 genetic disease ISO RGD:1352133 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32041611|PMID:9536098 8873637 Dock7 dedicator of cytokinesis 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8873700 Ccdc115 coiled-coil domain containing 115 gene DOID:0070267 congenital disorder of glycosylation type IIo ISO RGD:1603946 D RGD:7240710 20190315 OMIM 8873700 Ccdc115 coiled-coil domain containing 115 gene DOID:0070267 congenital disorder of glycosylation type IIo ISO RGD:1603946 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CCDC115-CDG PMID:24033266|PMID:25741868|PMID:26833332|PMID:28492532|PMID:29759592|PMID:33413482 8873700 Ccdc115 coiled-coil domain containing 115 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1603946 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital disorders of glycosylation type II PMID:24033266|PMID:25741868|PMID:26833332|PMID:28492532|PMID:29759592|PMID:33413482 8873700 Ccdc115 coiled-coil domain containing 115 gene DOID:630 genetic disease ISO RGD:1603946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8873709 Txlnb taxilin beta gene DOID:630 genetic disease ISO RGD:1317484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873709 Txlnb taxilin beta gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1317484 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8873723 Elob elongin B gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:734149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8873723 Elob elongin B gene DOID:1826 epilepsy ISO RGD:734149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8873723 Elob elongin B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:734149 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8873723 Elob elongin B gene DOID:630 genetic disease ISO RGD:734149 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873730 Irs2 insulin receptor substrate 2 gene DOID:0050902 medulloblastoma ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8873730 Irs2 insulin receptor substrate 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69316 D RGD:9068941 20200609 RGD PMID:20846698|REF_RGD_ID:6483014 8873730 Irs2 insulin receptor substrate 2 gene DOID:10652 Alzheimer's disease ISO RGD:736205 D RGD:9068941 20200609 RGD PMID:19487308|REF_RGD_ID:10045878 8873730 Irs2 insulin receptor substrate 2 gene DOID:10652 Alzheimer's disease ISO RGD:736205 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus: PMID:24887203|REF_RGD_ID:10045934 8873730 Irs2 insulin receptor substrate 2 gene DOID:10652 Alzheimer's disease severity ISO RGD:736204 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex: PMID:18479783|REF_RGD_ID:10045894 8873730 Irs2 insulin receptor substrate 2 gene DOID:11476 osteoporosis ISO RGD:69316 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle: PMID:22820932|REF_RGD_ID:7207063 8873730 Irs2 insulin receptor substrate 2 gene DOID:2222 factor X deficiency ISO RGD:736204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8873730 Irs2 insulin receptor substrate 2 gene DOID:4195 hyperglycemia ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20028942|PMID:25808216 8873730 Irs2 insulin receptor substrate 2 gene DOID:630 genetic disease ISO RGD:736204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873730 Irs2 insulin receptor substrate 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16127164 8873730 Irs2 insulin receptor substrate 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8873730 Irs2 insulin receptor substrate 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736204 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney tubule: PMID:23617393|REF_RGD_ID:7257702 8873730 Irs2 insulin receptor substrate 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69316 D RGD:9068941 20200609 RGD PMID:20720385|REF_RGD_ID:7257699 8873730 Irs2 insulin receptor substrate 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:736204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8873730 Irs2 insulin receptor substrate 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69316 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:heart PMID:20555424|REF_RGD_ID:4142788 8873730 Irs2 insulin receptor substrate 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25808216 8873730 Irs2 insulin receptor substrate 2 gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:736205 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8873730 Irs2 insulin receptor substrate 2 gene DOID:9007692 Insulin Resistance ISO RGD:736204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25808216 8873730 Irs2 insulin receptor substrate 2 gene DOID:9007692 Insulin Resistance ISO RGD:736204 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:G1057D PMID:15811564|REF_RGD_ID:1625025 8873730 Irs2 insulin receptor substrate 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736204 D RGD:7240710 20180130 OMIM 8873745 Hspb8 heat shock protein family B (small) member 8 gene DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L ISO RGD:1346187 D RGD:7240710 20180130 OMIM 8873745 Hspb8 heat shock protein family B (small) member 8 gene DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L ISO RGD:1346187 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2L PMID:15021985|PMID:15122253|PMID:15565283|PMID:17344846|PMID:18832141|PMID:20157854|PMID:20538880|PMID:20858900|PMID:21985219|PMID:22176143|PMID:23389032|PMID:25206829|PMID:25741868|PMID:25965061|PMID:26467025|PMID:26718575|PMID:26986878|PMID:28251916|PMID:28492532|PMID:28501893|PMID:28747872|PMID:28780615|PMID:32376792 8873745 Hspb8 heat shock protein family B (small) member 8 gene DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 ISO RGD:1346187 D RGD:7240710 20180130 OMIM 8873745 Hspb8 heat shock protein family B (small) member 8 gene DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 ISO RGD:1346187 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A PMID:15122253|PMID:1517763|PMID:17344846|PMID:20538880|PMID:21985219|PMID:25741868|PMID:26467025|PMID:26718575|PMID:26986878|PMID:28251916|PMID:28492532|PMID:32376792 8873745 Hspb8 heat shock protein family B (small) member 8 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1346187 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15021985|PMID:15122253|PMID:15565283|PMID:20157854|PMID:20538880|PMID:20858900|PMID:21985219|PMID:23389032|PMID:23796487|PMID:25206829|PMID:26467025|PMID:28492532|PMID:28747872|PMID:28780615 8873745 Hspb8 heat shock protein family B (small) member 8 gene DOID:11720 distal myopathy ISO RGD:1346187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal myopathy PMID:25741868|PMID:26976520|PMID:28501893|PMID:29029362 8873745 Hspb8 heat shock protein family B (small) member 8 gene DOID:574 peripheral nervous system disease ISO RGD:1346187 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 8873745 Hspb8 heat shock protein family B (small) member 8 gene DOID:630 genetic disease ISO RGD:1346187 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17344846|PMID:18832141|PMID:22176143|PMID:25741868|PMID:25965061|PMID:26467025|PMID:26718575|PMID:28492532|PMID:32376792 8873745 Hspb8 heat shock protein family B (small) member 8 gene DOID:870 neuropathy ISO RGD:1346187 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 8873755 Kiaa0825 KIAA0825 ortholog gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8873755 Kiaa0825 KIAA0825 ortholog gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:1604483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:24462372 8873755 Kiaa0825 KIAA0825 ortholog gene DOID:630 genetic disease ISO RGD:1604483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873755 Kiaa0825 KIAA0825 ortholog gene DOID:9003071 Postaxial Polydactyly ISO RGD:1604483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly PMID:30982135 8873755 Kiaa0825 KIAA0825 ortholog gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1604483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:30982135 8873755 Kiaa0825 KIAA0825 ortholog gene DOID:9003540 Postaxial Polydactyly, Type A10 ISO RGD:1604483 D RGD:7240710 20190731 OMIM 8873755 Kiaa0825 KIAA0825 ortholog gene DOID:9003540 Postaxial Polydactyly, Type A10 ISO RGD:1604483 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type a10 PMID:25741868|PMID:30982135|PMID:32147526 8873755 Kiaa0825 KIAA0825 ortholog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8873755 Kiaa0825 KIAA0825 ortholog gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604483 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8873810 Ttc39b tetratricopeptide repeat domain 39B gene DOID:1936 atherosclerosis treatment ISO RGD:1314049 D RGD:9068941 20230930 RGD PMID:29593532|REF_RGD_ID:401827839 8873810 Ttc39b tetratricopeptide repeat domain 39B gene DOID:630 genetic disease ISO RGD:1314048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873850 Rbm33 RNA binding motif protein 33 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1604982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 8873850 Rbm33 RNA binding motif protein 33 gene DOID:12849 autistic disorder ISO RGD:1604982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8873850 Rbm33 RNA binding motif protein 33 gene DOID:630 genetic disease ISO RGD:1604982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873880 Dync1i1 dynein cytoplasmic 1 intermediate chain 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8873880 Dync1i1 dynein cytoplasmic 1 intermediate chain 1 gene DOID:574 peripheral nervous system disease ISO RGD:734329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 8873880 Dync1i1 dynein cytoplasmic 1 intermediate chain 1 gene DOID:630 genetic disease ISO RGD:734329 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8873931 Tmem14c transmembrane protein 14C gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1313920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 8873931 Tmem14c transmembrane protein 14C gene DOID:630 genetic disease ISO RGD:1313920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873942 Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8873942 Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733943 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8873942 Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8873942 Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8873942 Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:630 genetic disease ISO RGD:733943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8873942 Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733943 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8873966 Mphosph9 M-phase phosphoprotein 9 gene DOID:0111487 combined oxidative phosphorylation deficiency 7 ISO RGD:1313543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 8873966 Mphosph9 M-phase phosphoprotein 9 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1313543 D RGD:9068941 20200609 RGD DNA:snp:intron:122222678G>T rs1790100 (human) PMID:19879194|REF_RGD_ID:2316985 8873966 Mphosph9 M-phase phosphoprotein 9 gene DOID:630 genetic disease ISO RGD:1313543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874000 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:0050439 Usher syndrome ISO RGD:1350405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 8874000 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1350405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8874000 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8874000 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:630 genetic disease ISO RGD:1350405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874000 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1350405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 8874000 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8874000 Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8874029 Usp27x ubiquitin specific peptidase 27 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8874029 Usp27x ubiquitin specific peptidase 27 X-linked gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8874029 Usp27x ubiquitin specific peptidase 27 X-linked gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8874029 Usp27x ubiquitin specific peptidase 27 X-linked gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8874029 Usp27x ubiquitin specific peptidase 27 X-linked gene DOID:0112036 non-syndromic X-linked intellectual disability 105 ISO RGD:1350698 D RGD:7240710 20190315 OMIM 8874029 Usp27x ubiquitin specific peptidase 27 X-linked gene DOID:0112036 non-syndromic X-linked intellectual disability 105 ISO RGD:1350698 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 PMID:25644381|PMID:25741868|PMID:38182161 8874029 Usp27x ubiquitin specific peptidase 27 X-linked gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8874029 Usp27x ubiquitin specific peptidase 27 X-linked gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1350698 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 8874029 Usp27x ubiquitin specific peptidase 27 X-linked gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8874029 Usp27x ubiquitin specific peptidase 27 X-linked gene DOID:12849 autistic disorder ISO RGD:1350698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8874029 Usp27x ubiquitin specific peptidase 27 X-linked gene DOID:630 genetic disease ISO RGD:1350698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874029 Usp27x ubiquitin specific peptidase 27 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350698 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:38182161 8874040 Psat1 phosphoserine aminotransferase 1 gene DOID:0050723 PSAT deficiency ISO RGD:1607031 D RGD:7240710 20180130 OMIM 8874040 Psat1 phosphoserine aminotransferase 1 gene DOID:0050723 PSAT deficiency ISO RGD:1607031 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PSAT deficiency PMID:17436247|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29269105|PMID:32077105|PMID:34077496|PMID:34089226|PMID:9536098 8874040 Psat1 phosphoserine aminotransferase 1 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1607031 D RGD:7240710 20180130 OMIM 8874040 Psat1 phosphoserine aminotransferase 1 gene DOID:0080075 Neu-Laxova syndrome 2 ISO RGD:1607031 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neu-Laxova syndrome 2 PMID:16199547|PMID:17436247|PMID:17576681|PMID:25152457|PMID:25741868|PMID:26960553|PMID:28492532|PMID:30293248|PMID:31903955|PMID:32077105|PMID:32579715|PMID:34077496|PMID:34089226|PMID:9536098 8874040 Psat1 phosphoserine aminotransferase 1 gene DOID:0080076 Neu-Laxova syndrome 1 ISO RGD:1607031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8874040 Psat1 phosphoserine aminotransferase 1 gene DOID:10907 microcephaly ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:32077105|PMID:34089226 8874040 Psat1 phosphoserine aminotransferase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1607031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482881 8874040 Psat1 phosphoserine aminotransferase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1607031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8874040 Psat1 phosphoserine aminotransferase 1 gene DOID:630 genetic disease ISO RGD:1607031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874040 Psat1 phosphoserine aminotransferase 1 gene DOID:9002189 High Myopia ISO RGD:1607031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532|PMID:32077105 8874040 Psat1 phosphoserine aminotransferase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1607031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8874054 Tmem263 transmembrane protein 263 gene DOID:630 genetic disease ISO RGD:1602311 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874082 Etv2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1351650 D RGD:9068941 20230323 RGD PMID:28424975|PMID:28466428|REF_RGD_ID:156451664|REF_RGD_ID:192379484 8874082 Etv2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia ameliorates ISO RGD:1616004 D RGD:9068941 20230323 RGD PMID:32075417|REF_RGD_ID:192186227 8874082 Etv2 ETS variant transcription factor 2 gene DOID:0050852 limb ischemia exacerbates ISO RGD:1616004 D RGD:9068941 20230316 RGD PMID:26586661|PMID:28424975|REF_RGD_ID:11076207|REF_RGD_ID:156451664 8874082 Etv2 ETS variant transcription factor 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1351650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8874082 Etv2 ETS variant transcription factor 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1351650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8874082 Etv2 ETS variant transcription factor 2 gene DOID:1148 polydactyly ISO RGD:1351650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:33359164 8874082 Etv2 ETS variant transcription factor 2 gene DOID:543 dystonia ISO RGD:1351650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8874082 Etv2 ETS variant transcription factor 2 gene DOID:630 genetic disease ISO RGD:1351650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874082 Etv2 ETS variant transcription factor 2 gene DOID:9009023 Aortic Remodeling ameliorates ISO RGD:1616004 D RGD:9068941 20230316 RGD PMID:29191922|REF_RGD_ID:156451665 8874092 Clvs2 clavesin 2 gene DOID:1826 epilepsy ISO RGD:1604529 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8874092 Clvs2 clavesin 2 gene DOID:630 genetic disease ISO RGD:1604529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874101 Lmtk2 lemur tyrosine kinase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8874101 Lmtk2 lemur tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:1315801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874101 Lmtk2 lemur tyrosine kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264097 8874124 Ilk integrin linked kinase gene DOID:0050700 cardiomyopathy ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8874124 Ilk integrin linked kinase gene DOID:0060118 thoracic disease ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23045294 8874124 Ilk integrin linked kinase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098 8874124 Ilk integrin linked kinase gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:28492532 8874124 Ilk integrin linked kinase gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732855 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:29915097|PMID:33874732 8874124 Ilk integrin linked kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:732855 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 8874124 Ilk integrin linked kinase gene DOID:10283 prostate cancer disease_progression ISO RGD:732855 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:significantly lower in benign prostatic hyperplasia then any prostate cancer (p<0.01), gradient of expression from BPH to poorly differentiated C+D stage neoplasms PMID:15704679|REF_RGD_ID:2301731 8874124 Ilk integrin linked kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 8874124 Ilk integrin linked kinase gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8874124 Ilk integrin linked kinase gene DOID:1790 malignant mesothelioma ISO RGD:732855 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23045294 8874124 Ilk integrin linked kinase gene DOID:1793 pancreatic cancer ISO RGD:732855 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 8874124 Ilk integrin linked kinase gene DOID:1826 epilepsy ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20064661 8874124 Ilk integrin linked kinase gene DOID:224 transient cerebral ischemia ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15472100 8874124 Ilk integrin linked kinase gene DOID:2394 ovarian cancer severity ISO RGD:732855 D RGD:9068941 20200609 RGD protein:increased expression:ovary, surface of epithelium (human) PMID:14517840|REF_RGD_ID:13441558 8874124 Ilk integrin linked kinase gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:732855 D RGD:9068941 20200609 RGD protein:increased expression:tumor: high-grade tumors versus adjacent BHP (P<0.001), BHP from cancer-free patients (P<0.002), or low-grade tumors (P=0.003), also associated with proliferative index (P=0.001), but inversely related to 5-year survival (p=0.004) PMID:11448915|REF_RGD_ID:2301734 8874124 Ilk integrin linked kinase gene DOID:2843 long QT syndrome ISO RGD:732855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8874124 Ilk integrin linked kinase gene DOID:630 genetic disease ISO RGD:732855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:34935411 8874124 Ilk integrin linked kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16941698 8874124 Ilk integrin linked kinase gene DOID:9004271 Colonic Polyps ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11593435 8874124 Ilk integrin linked kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732855 D RGD:9068941 20200609 RGD late onset development of tumors in transgenic mice overexpressing human ILK in mammary glands PMID:11704830|REF_RGD_ID:2301733 8874124 Ilk integrin linked kinase gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18702665|PMID:19629758 8874168 Ube3c ubiquitin protein ligase E3C gene DOID:0110875 holoprosencephaly 3 ISO RGD:1348358 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 8874168 Ube3c ubiquitin protein ligase E3C gene DOID:12849 autistic disorder ISO RGD:1348358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8874168 Ube3c ubiquitin protein ligase E3C gene DOID:630 genetic disease ISO RGD:1348358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874168 Ube3c ubiquitin protein ligase E3C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348358 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8874168 Ube3c ubiquitin protein ligase E3C gene DOID:9006574 NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:1348358 D RGD:7240710 20230505 OMIM 8874168 Ube3c ubiquitin protein ligase E3C gene DOID:9006574 NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:1348358 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities PMID:25741868|PMID:36401616 8874194 Tmem238 transmembrane protein 238 gene DOID:630 genetic disease ISO RGD:5488447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874200 Gpc5 glypican 5 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1318835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8874200 Gpc5 glypican 5 gene DOID:1184 nephrotic syndrome ISO RGD:1318835 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21441931 8874200 Gpc5 glypican 5 gene DOID:630 genetic disease ISO RGD:1318835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874200 Gpc5 glypican 5 gene DOID:9001542 Albuminuria ISO RGD:1318835 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21441931 8874215 Actrt2 actin related protein T2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8874215 Actrt2 actin related protein T2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8874215 Actrt2 actin related protein T2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8874215 Actrt2 actin related protein T2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8874215 Actrt2 actin related protein T2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8874215 Actrt2 actin related protein T2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8874215 Actrt2 actin related protein T2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8874215 Actrt2 actin related protein T2 gene DOID:630 genetic disease ISO RGD:1606455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874215 Actrt2 actin related protein T2 gene DOID:9000058 Keloid ISO RGD:1606455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8874215 Actrt2 actin related protein T2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8874215 Actrt2 actin related protein T2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8874215 Actrt2 actin related protein T2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8874220 Erfl ETS repressor factor like gene DOID:5419 schizophrenia ISO RGD:14696661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8874236 Dnah2 dynein axonemal heavy chain 2 gene DOID:0070297 primary microcephaly ISO RGD:1343596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 8874236 Dnah2 dynein axonemal heavy chain 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8874236 Dnah2 dynein axonemal heavy chain 2 gene DOID:0112163 spermatogenic failure 45 ISO RGD:1343596 D RGD:7240710 20201202 OMIM 8874236 Dnah2 dynein axonemal heavy chain 2 gene DOID:0112163 spermatogenic failure 45 ISO RGD:1343596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 45 PMID:25741868|PMID:30811583 8874236 Dnah2 dynein axonemal heavy chain 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1343596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8874236 Dnah2 dynein axonemal heavy chain 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1343596 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8874236 Dnah2 dynein axonemal heavy chain 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8874236 Dnah2 dynein axonemal heavy chain 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1343596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8874236 Dnah2 dynein axonemal heavy chain 2 gene DOID:630 genetic disease ISO RGD:1343596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874348 Npas1 neuronal PAS domain protein 1 gene DOID:630 genetic disease ISO RGD:1320711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874366 Nr2c1 nuclear receptor subfamily 2 group C member 1 gene DOID:289 endometriosis ISO RGD:1344559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8874366 Nr2c1 nuclear receptor subfamily 2 group C member 1 gene DOID:630 genetic disease ISO RGD:1344559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874366 Nr2c1 nuclear receptor subfamily 2 group C member 1 gene DOID:9006836 Contracture ISO RGD:1344559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8874406 Tmprss6 transmembrane serine protease 6 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8874406 Tmprss6 transmembrane serine protease 6 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316154 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8874406 Tmprss6 transmembrane serine protease 6 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8874406 Tmprss6 transmembrane serine protease 6 gene DOID:11252 microcytic anemia ISO RGD:1316154 D RGD:7240710 20180130 OMIM 8874406 Tmprss6 transmembrane serine protease 6 gene DOID:11252 microcytic anemia ISO RGD:1316154 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Iron-refractory iron deficiency anemia | ClinVar Annotator: match by term: Microcytic anemia | ClinVar Annotator: match by term: TMPRSS6-related condition PMID:18408718|PMID:18596229|PMID:19357398|PMID:19592582|PMID:19818657|PMID:20719010|PMID:23319530|PMID:25156943|PMID:25588876|PMID:25741868|PMID:25873000|PMID:27365303|PMID:27643674|PMID:28460265|PMID:28492532|PMID:30135444|PMID:32581362 8874406 Tmprss6 transmembrane serine protease 6 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8874406 Tmprss6 transmembrane serine protease 6 gene DOID:11758 iron deficiency anemia ISO RGD:1316154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18408718|PMID:22169218 8874406 Tmprss6 transmembrane serine protease 6 gene DOID:630 genetic disease ISO RGD:1316154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8874428 Rusf1 RUS family member 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1601979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8874428 Rusf1 RUS family member 1 gene DOID:630 genetic disease ISO RGD:1601979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874428 Rusf1 RUS family member 1 gene DOID:9432 renal glycosuria ISO RGD:1601979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial renal glucosuria PMID:14569097|PMID:14614622|PMID:15110322|PMID:18622023|PMID:25741868|PMID:28492532 8874445 Wwc3 WWC family member 3 gene DOID:10283 prostate cancer ISO RGD:1601752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8874445 Wwc3 WWC family member 3 gene DOID:12849 autistic disorder ISO RGD:1601752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8874445 Wwc3 WWC family member 3 gene DOID:630 genetic disease ISO RGD:1601752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874445 Wwc3 WWC family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601752 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8874476 LOC102009926 chromosome unknown open reading frame, human C12orf57 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606749 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8874476 LOC102009926 chromosome unknown open reading frame, human C12orf57 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8874476 LOC102009926 chromosome unknown open reading frame, human C12orf57 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8874476 LOC102009926 chromosome unknown open reading frame, human C12orf57 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8874476 LOC102009926 chromosome unknown open reading frame, human C12orf57 gene DOID:0111621 Temtamy syndrome ISO RGD:1606749 D RGD:7240710 20180130 OMIM 8874476 LOC102009926 chromosome unknown open reading frame, human C12orf57 gene DOID:0111621 Temtamy syndrome ISO RGD:1606749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:16199547|PMID:17576681|PMID:21937992|PMID:23453665|PMID:23453666|PMID:23633300|PMID:24798461|PMID:25326635|PMID:25558065|PMID:25741868|PMID:28097321|PMID:28454995|PMID:28492532|PMID:28600779|PMID:29269699|PMID:29383837|PMID:9536098 8874476 LOC102009926 chromosome unknown open reading frame, human C12orf57 gene DOID:1059 intellectual disability ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8874476 LOC102009926 chromosome unknown open reading frame, human C12orf57 gene DOID:630 genetic disease ISO RGD:1606749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8874476 LOC102009926 chromosome unknown open reading frame, human C12orf57 gene DOID:9002947 Aicardi-Goutieres Syndrome 9 ISO RGD:1606749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 PMID:16547514|PMID:25741868|PMID:33230297|PMID:7667090 8874476 LOC102009926 chromosome unknown open reading frame, human C12orf57 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8874476 LOC102009926 chromosome unknown open reading frame, human C12orf57 gene DOID:9008086 Developmental Disabilities ISO RGD:1606749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21937992|PMID:23453665|PMID:23453666|PMID:23633300|PMID:24798461|PMID:25326635|PMID:25558065|PMID:25741868|PMID:28097321|PMID:28454995|PMID:28492532|PMID:28600779|PMID:29383837 8874483 Meaf6 MYST/Esa1 associated factor 6 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8874483 Meaf6 MYST/Esa1 associated factor 6 gene DOID:630 genetic disease ISO RGD:1604318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874529 Adgrf1 adhesion G protein-coupled receptor F1 gene DOID:630 genetic disease ISO RGD:1321097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:630 genetic disease ISO RGD:1604563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:9005405 Primary Ciliary Dyskinesia 49 ISO RGD:1604563 D RGD:7240710 20230201 OMIM 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:9005405 Primary Ciliary Dyskinesia 49 ISO RGD:1604563 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 49, without situs inversus PMID:25741868|PMID:32555313|PMID:36047773 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8874550 Cfap74 cilia and flagella associated protein 74 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8874612 Kcnk5 potassium two pore domain channel subfamily K member 5 gene DOID:1824 status epilepticus ISO RGD:1345390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19220408 8874612 Kcnk5 potassium two pore domain channel subfamily K member 5 gene DOID:630 genetic disease ISO RGD:1345390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874633 Tex10 testis expressed 10 gene DOID:1059 intellectual disability ISO RGD:1323824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8874633 Tex10 testis expressed 10 gene DOID:630 genetic disease ISO RGD:1323824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874663 Ngb neuroglobin gene DOID:10652 Alzheimer's disease treatment ISO RGD:621461 D RGD:9068941 20200609 RGD PMID:23428737|REF_RGD_ID:9743955 8874663 Ngb neuroglobin gene DOID:12510 retinal ischemia ISO RGD:621461 D RGD:9068941 20200609 RGD associated with Ocular Hypertension;protein:increased expression:retina PMID:22553688|REF_RGD_ID:9854634 8874663 Ngb neuroglobin gene DOID:224 transient cerebral ischemia ISO RGD:621461 D RGD:9068941 20200609 RGD PMID:12621155|REF_RGD_ID:9743964 8874663 Ngb neuroglobin gene DOID:224 transient cerebral ischemia ISO RGD:621461 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:decreased expression:brain PMID:16647691|REF_RGD_ID:9743952 8874663 Ngb neuroglobin gene DOID:224 transient cerebral ischemia treatment ISO RGD:1553611 D RGD:9068941 20200609 RGD PMID:12621155|REF_RGD_ID:9743964 8874663 Ngb neuroglobin gene DOID:224 transient cerebral ischemia treatment ISO RGD:621461 D RGD:9068941 20200609 RGD PMID:23342777|REF_RGD_ID:9743965 8874663 Ngb neuroglobin gene DOID:630 genetic disease ISO RGD:1352460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874663 Ngb neuroglobin gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621461 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:24281943|REF_RGD_ID:9743950 8874663 Ngb neuroglobin gene DOID:9000998 Brain Injuries severity ISO RGD:621461 D RGD:9068941 20200609 RGD PMID:21915648|REF_RGD_ID:9743963 8874663 Ngb neuroglobin gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1352460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16825958 8874663 Ngb neuroglobin gene DOID:9007980 Sleep Deprivation ISO RGD:621461 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:23262504|REF_RGD_ID:9743966 8874663 Ngb neuroglobin gene DOID:9588 encephalitis ISO RGD:621461 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, frontal cortex, serum PMID:19842562|REF_RGD_ID:9743961 8874671 Lama1 laminin subunit alpha 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1316264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8874671 Lama1 laminin subunit alpha 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1316264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 8874671 Lama1 laminin subunit alpha 1 gene DOID:0081292 traumatic brain injury ISO RGD:1316264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 8874671 Lama1 laminin subunit alpha 1 gene DOID:1059 intellectual disability ISO RGD:1316264 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8874671 Lama1 laminin subunit alpha 1 gene DOID:5419 schizophrenia ISO RGD:1316264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 8874671 Lama1 laminin subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1316264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25105227|PMID:25741868|PMID:26350204|PMID:26932191|PMID:28492532|PMID:32590954|PMID:34423300 8874671 Lama1 laminin subunit alpha 1 gene DOID:9008073 PORETTI-BOLTSHAUSER SYNDROME ISO RGD:1316264 D RGD:7240710 20180130 OMIM 8874671 Lama1 laminin subunit alpha 1 gene DOID:9008073 PORETTI-BOLTSHAUSER SYNDROME ISO RGD:1316264 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: LAMA1-related condition | ClinVar Annotator: match by term: Poretti-Boltshauser syndrome PMID:16199547|PMID:17576681|PMID:24033266|PMID:25105227|PMID:25741868|PMID:26932191|PMID:28283601|PMID:28492532|PMID:33101984|PMID:33767182|PMID:34423300|PMID:9536098 8874671 Lama1 laminin subunit alpha 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 8874737 Ccdc43 coiled-coil domain containing 43 gene DOID:630 genetic disease ISO RGD:1606980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874749 Ghr growth hormone receptor gene DOID:0050328 congenital hypothyroidism treatment ISO RGD:2687 D RGD:9068941 20200609 RGD PMID:21162131|REF_RGD_ID:10003146 8874749 Ghr growth hormone receptor gene DOID:0060870 isolated growth hormone deficiency ISO RGD:69149 D RGD:9068941 20200609 RGD Laron syndrome,OMIM:262500;DNA:deletion PMID:2813379|REF_RGD_ID:1601315 8874749 Ghr growth hormone receptor gene DOID:11476 osteoporosis ISO RGD:2687 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:19424739|REF_RGD_ID:10003131 8874749 Ghr growth hormone receptor gene DOID:11476 osteoporosis treatment ISO RGD:2687 D RGD:9068941 20200609 RGD associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast PMID:17647196|REF_RGD_ID:10003128 8874749 Ghr growth hormone receptor gene DOID:12849 autistic disorder ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17547689 8874749 Ghr growth hormone receptor gene DOID:13533 osteopetrosis ISO RGD:2687 D RGD:9068941 20200609 RGD protein:decreased expression:osteoclast PMID:14632687|REF_RGD_ID:2307374 8874749 Ghr growth hormone receptor gene DOID:13580 cholestasis ISO RGD:10644 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver, skeletal muscle: PMID:15604202|REF_RGD_ID:11567216 8874749 Ghr growth hormone receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:69149 D RGD:7240710 20180130 OMIM 8874749 Ghr growth hormone receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:69149 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia PMID:12910492|PMID:17462934|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7565946|PMID:8504296 8874749 Ghr growth hormone receptor gene DOID:13810 familial hypercholesterolemia ISO RGD:69149 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:11502828|PMID:12910492|PMID:17462934|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7565946|PMID:8504296|PMID:9360502 8874749 Ghr growth hormone receptor gene DOID:1612 breast cancer ISO RGD:69149 D RGD:9068941 20200609 RGD protein:increased expression:serum:cases versus controls (p<0.01) PMID:17287408|REF_RGD_ID:2301716 8874749 Ghr growth hormone receptor gene DOID:1826 epilepsy ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizures PMID:10984309|PMID:25741868|PMID:28492532 8874749 Ghr growth hormone receptor gene DOID:2962 Cockayne syndrome ISO RGD:10644 D RGD:9068941 20200609 RGD PMID:17326724|REF_RGD_ID:10003139 8874749 Ghr growth hormone receptor gene DOID:5353 colonic disease ISO RGD:69149 D RGD:9068941 20200609 RGD associated with Acromegaly;DNA:deletion:exon PMID:19864451|REF_RGD_ID:10003142 8874749 Ghr growth hormone receptor gene DOID:630 genetic disease ISO RGD:69149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8874749 Ghr growth hormone receptor gene DOID:684 hepatocellular carcinoma ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8874749 Ghr growth hormone receptor gene DOID:767 muscular atrophy ISO RGD:2687 D RGD:9068941 20200609 RGD mRNA:increased expression:soleus PMID:12865352|REF_RGD_ID:2307376 8874749 Ghr growth hormone receptor gene DOID:767 muscular atrophy ISO RGD:2687 D RGD:9068941 20220224 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) PMID:14638460|REF_RGD_ID:151361116 8874749 Ghr growth hormone receptor gene DOID:8398 osteoarthritis ISO RGD:69149 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:23740230|REF_RGD_ID:10003113 8874749 Ghr growth hormone receptor gene DOID:8927 learning disability ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:10984309|PMID:25741868|PMID:28492532 8874749 Ghr growth hormone receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2687 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:12679928|REF_RGD_ID:2307378 8874749 Ghr growth hormone receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8874749 Ghr growth hormone receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:10644 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:10541297|REF_RGD_ID:2307370 8874749 Ghr growth hormone receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2687 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15066219|REF_RGD_ID:2307364 8874749 Ghr growth hormone receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2687 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney PMID:10990443|REF_RGD_ID:2307368 8874749 Ghr growth hormone receptor gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:10644 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:10614635|REF_RGD_ID:2307369 8874749 Ghr growth hormone receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17220348 8874749 Ghr growth hormone receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2687 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19524466|REF_RGD_ID:2315620 8874749 Ghr growth hormone receptor gene DOID:9004271 Colonic Polyps ISO RGD:69149 D RGD:9068941 20200609 RGD associated with Acromegaly;DNA:deletion:exon PMID:19864451|REF_RGD_ID:10003142 8874749 Ghr growth hormone receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8874749 Ghr growth hormone receptor gene DOID:9004484 Sepsis ISO RGD:2687 D RGD:9068941 20200609 RGD PMID:11126270|REF_RGD_ID:2307382 8874749 Ghr growth hormone receptor gene DOID:9004552 Genu Varum ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genu varum PMID:10984309|PMID:25741868|PMID:28492532 8874749 Ghr growth hormone receptor gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:69149 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:11502828|PMID:12910492|PMID:17462934|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7565946|PMID:8504296|PMID:9360502 8874749 Ghr growth hormone receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10644 D RGD:9068941 20200609 RGD PMID:12529387|REF_RGD_ID:2307365 8874749 Ghr growth hormone receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2687 D RGD:9068941 20200609 RGD PMID:7964296|REF_RGD_ID:11567222 8874749 Ghr growth hormone receptor gene DOID:9005930 Endotoxemia ISO RGD:2687 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 8874749 Ghr growth hormone receptor gene DOID:9005930 Endotoxemia ISO RGD:2687 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:12654216|REF_RGD_ID:2307380 8874749 Ghr growth hormone receptor gene DOID:9006041 Osteoarthritis, Hip ISO RGD:69149 D RGD:9068941 20200609 RGD associated with Acromegaly;DNA:deletion:exon: PMID:19864451|REF_RGD_ID:10003142 8874749 Ghr growth hormone receptor gene DOID:9006324 Isolated Growth Hormone Deficiency, Partial ISO RGD:69149 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency PMID:10984309|PMID:11502828|PMID:12217488|PMID:12910492|PMID:17274879|PMID:17462934|PMID:21525302|PMID:21846964|PMID:21900382|PMID:24150201|PMID:25741868|PMID:26467025|PMID:27408750|PMID:28492532|PMID:28498917|PMID:7565946|PMID:8504296|PMID:9140387|PMID:9360502|PMID:9814495 8874749 Ghr growth hormone receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:69149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8874749 Ghr growth hormone receptor gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:69149 D RGD:7240710 20180130 OMIM 8874749 Ghr growth hormone receptor gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:69149 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial | ClinVar Annotator: match by term: Short stature, idiopathic, autosomal PMID:10984309|PMID:11502828|PMID:12217488|PMID:12910492|PMID:17274879|PMID:17462934|PMID:21525302|PMID:21846964|PMID:21900382|PMID:24150201|PMID:25741868|PMID:26467025|PMID:27408750|PMID:28492532|PMID:28498917|PMID:7565946|PMID:8504296|PMID:9140387|PMID:9360502|PMID:9814495 8874749 Ghr growth hormone receptor gene DOID:9007661 Dwarfism ISO RGD:69149 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short stature PMID:10984309|PMID:25741868|PMID:28492532 8874749 Ghr growth hormone receptor gene DOID:9007661 Dwarfism treatment ISO RGD:69149 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:22026923|REF_RGD_ID:11566042 8874749 Ghr growth hormone receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69149 D RGD:9068941 20200609 RGD DNA:deletion:exon (human) PMID:17537658|REF_RGD_ID:2307363 8874749 Ghr growth hormone receptor gene DOID:9521 Laron syndrome ISO RGD:69149 D RGD:7240710 20180130 OMIM 8874749 Ghr growth hormone receptor gene DOID:9521 Laron syndrome ISO RGD:69149 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Laron dwarfism | ClinVar Annotator: match by term: Laron syndrome with elevated serum GH-binding protein | ClinVar Annotator: match by term: Laron syndrome with undetectable serum GH-binding protein | ClinVar Annotator: match by term: Laron-type isolated somatotropin defect PMID:10084588|PMID:10984309|PMID:11395710|PMID:11468686|PMID:11502828|PMID:11785980|PMID:11836282|PMID:12181638|PMID:12217488|PMID:12423626|PMID:12679461|PMID:1284474|PMID:12910492|PMID:15001620|PMID:15055350|PMID:15536163|PMID:16199547|PMID:16213173|PMID:16381017|PMID:17148568|PMID:1719554|PMID:17405847|PMID:17462934|PMID:17547682|PMID:19344888|PMID:19447840|PMID:19815155|PMID:1999489|PMID:20962506|PMID:21525302|PMID:21846964|PMID:21900382|PMID:2233903|PMID:24150201|PMID:24335149|PMID:24664892|PMID:25101218|PMID:25411237|PMID:25741868|PMID:26467025|PMID:27408750|PMID:2779634|PMID:2813379|PMID:28492532|PMID:28498917|PMID:28870985|PMID:31690835|PMID:36110220|PMID:7565946|PMID:8137822|PMID:8421103|PMID:8450064|PMID:8488849|PMID:8504296|PMID:8521189|PMID:8626815|PMID:8664975|PMID:9360502|PMID:9360529|PMID:9467570|PMID:9626125|PMID:9661611|PMID:9661642|PMID:9814495|PMID:9851797 8874749 Ghr growth hormone receptor gene DOID:9669 senile cataract ISO RGD:10644 D RGD:9068941 20200609 RGD PMID:16129095|REF_RGD_ID:10003112 8874749 Ghr growth hormone receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:10644 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney, liver PMID:11469393|REF_RGD_ID:2307367 8874749 Ghr growth hormone receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:69149 D RGD:9068941 20200609 RGD PMID:12054124|REF_RGD_ID:2307366 8874762 Hrh1 histamine receptor H1 gene DOID:0060001 withdrawal disorder ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8870037 8874762 Hrh1 histamine receptor H1 gene DOID:0060496 respiratory allergy ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12095164 8874762 Hrh1 histamine receptor H1 gene DOID:1272 telangiectasis ISO RGD:736085 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:32061592 8874762 Hrh1 histamine receptor H1 gene DOID:1936 atherosclerosis ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25020133 8874762 Hrh1 histamine receptor H1 gene DOID:4481 allergic rhinitis ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23333628 8874762 Hrh1 histamine receptor H1 gene DOID:4483 rhinitis ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12167471 8874762 Hrh1 histamine receptor H1 gene DOID:5419 schizophrenia ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1912125 8874762 Hrh1 histamine receptor H1 gene DOID:630 genetic disease ISO RGD:736085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874762 Hrh1 histamine receptor H1 gene DOID:9000641 Pain ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12128009|PMID:14569158 8874762 Hrh1 histamine receptor H1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8874762 Hrh1 histamine receptor H1 gene DOID:9006024 Hypotension ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2105067 8874762 Hrh1 histamine receptor H1 gene DOID:9006202 Pruritus ISO RGD:736085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652466 8874762 Hrh1 histamine receptor H1 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:736085 D RGD:9068941 20200702 CTD CTD Direct Evidence: therapeutic PMID:32061592 8874783 LOC102015999 chromosome unknown open reading frame, human C3orf33 gene DOID:630 genetic disease ISO RGD:1605242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874795 Zfyve16 zinc finger FYVE-type containing 16 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1348980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 8874795 Zfyve16 zinc finger FYVE-type containing 16 gene DOID:630 genetic disease ISO RGD:1348980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874795 Zfyve16 zinc finger FYVE-type containing 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8874795 Zfyve16 zinc finger FYVE-type containing 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8874795 Zfyve16 zinc finger FYVE-type containing 16 gene DOID:9565 dextrocardia ISO RGD:1348980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia 8874828 Col15a1 collagen type XV alpha 1 chain gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8874828 Col15a1 collagen type XV alpha 1 chain gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8874828 Col15a1 collagen type XV alpha 1 chain gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8874828 Col15a1 collagen type XV alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:1321941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8874828 Col15a1 collagen type XV alpha 1 chain gene DOID:12712 nephronophthisis ISO RGD:1321941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8874828 Col15a1 collagen type XV alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:1321941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8874828 Col15a1 collagen type XV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1321941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874828 Col15a1 collagen type XV alpha 1 chain gene DOID:684 hepatocellular carcinoma ISO RGD:1321941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8874828 Col15a1 collagen type XV alpha 1 chain gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8874873 Lzic leucine zipper and CTNNBIP1 domain containing gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1319494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8874873 Lzic leucine zipper and CTNNBIP1 domain containing gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319494 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8874873 Lzic leucine zipper and CTNNBIP1 domain containing gene DOID:0111936 immunodeficiency 14 ISO RGD:1319494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8874873 Lzic leucine zipper and CTNNBIP1 domain containing gene DOID:3347 osteosarcoma ISO RGD:1309253 D RGD:9068941 20200609 RGD PMID:19444910|REF_RGD_ID:2314410 8874873 Lzic leucine zipper and CTNNBIP1 domain containing gene DOID:630 genetic disease ISO RGD:1319494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874933 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0050712 AGAT deficiency ISO RGD:1320975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8874933 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1320975 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells PMID:25741868|PMID:28492532|PMID:33543539 8874933 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0060547 Hermansky-Pudlak syndrome 9 ISO RGD:1320975 D RGD:7240710 20180130 OMIM 8874933 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:0060547 Hermansky-Pudlak syndrome 9 ISO RGD:1320975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 PMID:10610180|PMID:16199547|PMID:17576681|PMID:21665000|PMID:22461475|PMID:25741868|PMID:26575419|PMID:28492532|PMID:32245340|PMID:33543539|PMID:9536098 8874933 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:2223 platelet storage pool deficiency ISO RGD:1320976 D RGD:9068941 20220825 MouseDO OMIM:185050 8874933 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:2717 Bloom syndrome ISO RGD:1320975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8874933 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1320975 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28492532 8874933 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1320975 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:10610180|PMID:21665000|PMID:22461475|PMID:25741868|PMID:26575419|PMID:28492532|PMID:33543539 8874933 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:630 genetic disease ISO RGD:1320975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8874933 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:9256 colorectal cancer ISO RGD:1320975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8874933 Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 gene DOID:9675 pulmonary emphysema ISO RGD:1320976 D RGD:9068941 20220825 MouseDO OMIM:130700 8874968 Sap25 Sin3A associated protein 25 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5132311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8874968 Sap25 Sin3A associated protein 25 gene DOID:630 genetic disease ISO RGD:5132311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8874983 Ptpdc1 protein tyrosine phosphatase domain containing 1 gene DOID:12642 hiatus hernia ISO RGD:1317037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 8874983 Ptpdc1 protein tyrosine phosphatase domain containing 1 gene DOID:630 genetic disease ISO RGD:1317037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875025 Btd biotinidase gene DOID:0050810 biotin deficiency ISO RGD:1313273 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Biotin deficiency PMID:11668630|PMID:12359137|PMID:15060693|PMID:17185019|PMID:19757147|PMID:20301497|PMID:22698809|PMID:22975760|PMID:24033266|PMID:25144890|PMID:25174816|PMID:25741868|PMID:25795614|PMID:25967232|PMID:26467025|PMID:26810761|PMID:27207447|PMID:27329734|PMID:27657684|PMID:28492532|PMID:28498829|PMID:29359854|PMID:29728376|PMID:30551056|PMID:34136440|PMID:35195902|PMID:88555|PMID:9099842|PMID:9158148 8875025 Btd biotinidase gene DOID:0060417 3p deletion syndrome ISO RGD:1313273 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8875025 Btd biotinidase gene DOID:1059 intellectual disability ISO RGD:1313273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:14707518|PMID:17185019|PMID:20224900|PMID:20301497|PMID:22698809|PMID:23644139|PMID:24797656|PMID:25174816|PMID:25423671|PMID:25741868|PMID:25754625|PMID:26361991|PMID:26467025|PMID:26810761|PMID:27329734|PMID:27378695|PMID:27657684|PMID:28492532|PMID:28498829|PMID:28971021|PMID:29359854|PMID:31337602|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9654207 8875025 Btd biotinidase gene DOID:11383 cryptorchidism ISO RGD:1313273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism 8875025 Btd biotinidase gene DOID:12849 autistic disorder ISO RGD:1313273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13680408 8875025 Btd biotinidase gene DOID:630 genetic disease ISO RGD:1313273 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10206677|PMID:10400129|PMID:10801053|PMID:11313766|PMID:11668630|PMID:12227467|PMID:12618081|PMID:14628140|PMID:15776412|PMID:1668630|PMID:17185019|PMID:18845537|PMID:19757147|PMID:20083419|PMID:20224900|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:21752405|PMID:22698809|PMID:22975760|PMID:22995991|PMID:23644139|PMID:23971085|PMID:24033266|PMID:24066991|PMID:24525934|PMID:24797656|PMID:25087612|PMID:25174816|PMID:25333069|PMID:25741868|PMID:25754625|PMID:25967232|PMID:26334177|PMID:26361991|PMID:26467025|PMID:26589311|PMID:26810761|PMID:27207447|PMID:27329734|PMID:27535533|PMID:27625817|PMID:27657684|PMID:27760515|PMID:27845546|PMID:28281033|PMID:28492532|PMID:28498829|PMID:28682309|PMID:28971021|PMID:29353266|PMID:29359854|PMID:29728376|PMID:29995633|PMID:30551056|PMID:30912303|PMID:31208052|PMID:31337602|PMID:31801038|PMID:32300527|PMID:33123633|PMID:33189081|PMID:33217065|PMID:33312878|PMID:34136440|PMID:35195902|PMID:7509806|PMID:88555|PMID:9099842|PMID:9158148|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9654207 8875025 Btd biotinidase gene DOID:856 biotinidase deficiency ISO RGD:1313273 D RGD:7240710 20180130 OMIM 8875025 Btd biotinidase gene DOID:856 biotinidase deficiency ISO RGD:1313273 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency | ClinVar Annotator: match by term: Late-onset biotin-responsive multiple carboxylase deficiency PMID:10206677|PMID:10394193|PMID:10400129|PMID:10655158|PMID:10801053|PMID:10801060|PMID:11313766|PMID:11380987|PMID:11668630|PMID:11865279|PMID:12227467|PMID:12359137|PMID:12618081|PMID:14628140|PMID:14707518|PMID:15059618|PMID:15060693|PMID:15776412|PMID:16199547|PMID:16435182|PMID:1668630|PMID:17185019|PMID:17382128|PMID:17576681|PMID:18645204|PMID:18845537|PMID:19728141|PMID:19757147|PMID:20083419|PMID:20224900|PMID:20301497|PMID:20539236|PMID:20549359|PMID:20556795|PMID:20981092|PMID:21228398|PMID:21752405|PMID:21907891|PMID:22011816|PMID:22106832|PMID:22698809|PMID:22863189|PMID:22975760|PMID:22995991|PMID:23644139|PMID:23971085|PMID:24033266|PMID:24066991|PMID:24123366|PMID:24516753|PMID:24525934|PMID:24797656|PMID:24932929|PMID:25087612|PMID:25144890|PMID:25174816|PMID:25333069|PMID:25423671|PMID:25741868|PMID:25754625|PMID:25795614|PMID:25967232|PMID:25972378|PMID:26117549|PMID:26203071|PMID:26334177|PMID:26361991|PMID:26467025|PMID:26589311|PMID:26635394|PMID:26656798|PMID:26810761|PMID:26990548|PMID:27207447|PMID:27329734|PMID:27378695|PMID:27533158|PMID:27535533|PMID:27625817|PMID:27629047|PMID:27657684|PMID:27760515|PMID:27845546|PMID:28220409|PMID:28281033|PMID:28492532|PMID:28498829|PMID:28649532|PMID:28649539|PMID:28682309|PMID:28971021|PMID:29353266|PMID:29359854|PMID:29728376|PMID:29995633|PMID:30551056|PMID:30616616|PMID:30912303|PMID:31035122|PMID:31208052|PMID:31337602|PMID:31618753|PMID:31801038|PMID:31973013|PMID:31980526|PMID:32300527|PMID:33016994|PMID:33123633|PMID:33189081|PMID:33217065|PMID:33223529|PMID:33312878|PMID:34136440|PMID:34166817|PMID:34374989|PMID:34448386|PMID:35195902|PMID:35627187|PMID:36684547|PMID:7509806|PMID:7550325|PMID:88555|PMID:9099842|PMID:9158148|PMID:9232193|PMID:9375914|PMID:9396567|PMID:9506660|PMID:9536098|PMID:9654207|PMID:9705240 8875025 Btd biotinidase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15469856 8875025 Btd biotinidase gene DOID:9008086 Developmental Disabilities ISO RGD:1313273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:0050127 sinusitis ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:18396779|REF_RGD_ID:4892328 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:0050696 fetal alcohol spectrum disorder sexual_dimorphism ISO RGD:2741 D RGD:9068941 20240215 RGD associated with adrenalectomy, chronic stress, female; mRNA:increased expression:prefrontal cortex (rat) PMID:30367959|REF_RGD_ID:401966864 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:0050696 fetal alcohol spectrum disorder sexual_dimorphism ISO RGD:2741 D RGD:9068941 20240215 RGD associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) PMID:29251811|REF_RGD_ID:401965484 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:732227 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lymphoid tissue: PMID:15611350|REF_RGD_ID:4892608 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:0060224 atrial fibrillation ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:0080162 lupus nephritis ISO RGD:10691 D RGD:9068941 20200609 RGD PMID:21509671|REF_RGD_ID:7174713 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:0080162 lupus nephritis ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:17880936|REF_RGD_ID:7174734 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:732227 D RGD:9068941 20200609 RGD mRNA:alternative form:blood, mononuclear cell PMID:20419394|REF_RGD_ID:7174729 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732227 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:10283 prostate cancer ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:10763 hypertension ISO RGD:10691 D RGD:9068941 20200609 RGD PMID:20659135|REF_RGD_ID:7174714 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:10763 hypertension ISO RGD:2741 D RGD:9068941 20200609 RGD associated with fetal nutrition disorder PMID:20674672|REF_RGD_ID:4892208 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:10763 hypertension ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18434569|PMID:20659135 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:10966 lipoid nephrosis disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:17890747|REF_RGD_ID:7174718 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:11206 opioid abuse treatment ISO RGD:2741 D RGD:9068941 20240208 RGD PMID:9636221|REF_RGD_ID:401965473 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:22176470|REF_RGD_ID:7174741 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:11832 visual epilepsy ISO RGD:2741 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:20113635|REF_RGD_ID:4892123 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:1184 nephrotic syndrome treatment ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:15833166|REF_RGD_ID:7174719 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:12236 primary biliary cholangitis ISO RGD:732227 D RGD:9068941 20200609 RGD mRNA:altered expression:leukocyte, mononuclear PMID:15635817|REF_RGD_ID:4892607 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:13141 uveitis ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ciliary body, iris PMID:23152847|REF_RGD_ID:7174735 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:13141 uveitis ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (rat) PMID:21724913|REF_RGD_ID:5490118 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:2255800|REF_RGD_ID:4892566 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:1470 major depressive disorder ISO RGD:732227 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS2+646C>G (human) PMID:18246526|REF_RGD_ID:7174717 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:1596 depressive disorder ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:21837980|REF_RGD_ID:5686290 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:1596 depressive disorder ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:1824 status epilepticus ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:22050960|REF_RGD_ID:5686281 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:2055 post-traumatic stress disorder ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:locus coeruleus (rat) PMID:21584742|REF_RGD_ID:5686336 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:2316 brain ischemia ISO RGD:2741 D RGD:9068941 20200609 RGD protein:decreased expression:brain cortex PMID:17344647|REF_RGD_ID:4892115 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:2320 obstructive lung disease ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9926163 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:2468 psychotic disorder ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:2841 asthma ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:15295049|PMID:18396779|REF_RGD_ID:4892328|REF_RGD_ID:4892609 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:2841 asthma severity ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression, decreased activity:leukocyte, mononuclear PMID:18799869|REF_RGD_ID:4892594 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:2841 asthma susceptibility ISO RGD:732227 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:21113676|REF_RGD_ID:4892568 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:2841 asthma treatment ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:20727335|REF_RGD_ID:7174728 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:289 endometriosis ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:3082 interstitial lung disease disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:4028852|REF_RGD_ID:4892567 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:9926163|REF_RGD_ID:4892564 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732227 D RGD:9068941 20200609 RGD protein:decreased expression:lung, lymphocyte PMID:20450542|REF_RGD_ID:4892318 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:3312 bipolar disorder ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:3324 mood disorder ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29921868 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:3393 coronary artery disease ISO RGD:732227 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N363S (human) PMID:12623935|REF_RGD_ID:1580790 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16806572|REF_RGD_ID:4892333 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:4194 glucose metabolism disease ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29802709 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:21531004|REF_RGD_ID:7174727 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:4450 renal cell carcinoma treatment ISO RGD:732227 D RGD:9068941 20200609 RGD PMID:18181043|REF_RGD_ID:7174733 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:446 primary hyperaldosteronism ISO RGD:10691 D RGD:9068941 20220825 MouseDO OMIM:605635 | OMIM:613677 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:4500 hypokalemia ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11932321 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:5419 schizophrenia ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030|PMID:21647420 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:21737535|REF_RGD_ID:7174712 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:630 genetic disease ISO RGD:732227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:2741 D RGD:9068941 20200609 RGD mRNA:increased expression:paw PMID:18448865|REF_RGD_ID:4892311 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:767 muscular atrophy ISO RGD:2741 D RGD:9068941 20200609 RGD protein:altered expression:nucleus PMID:17622304|REF_RGD_ID:4892297 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:783 end stage renal disease ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:18591458|REF_RGD_ID:7174716 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:809 cocaine abuse treatment ISO RGD:2741 D RGD:9068941 20240222 RGD PMID:12805318|PMID:9765324|REF_RGD_ID:401976288|REF_RGD_ID:401976376 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:83 cataract ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:12714641|REF_RGD_ID:4892118 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:850 lung disease ISO RGD:2741 D RGD:9068941 20200609 RGD Acute lung injury;protein:increased expression:lung PMID:17467318|REF_RGD_ID:4892201 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:850 lung disease disease_progression ISO RGD:732227 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:polymorphism:intron PMID:18047640|REF_RGD_ID:4892330 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:8689 anorexia nervosa ISO RGD:732227 D RGD:9068941 20200609 RGD protein:decreased activity:blood, mononuclear leukocyte PMID:10356629|REF_RGD_ID:7174723 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9000121 Malocclusion ISO RGD:2741 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:21751079|REF_RGD_ID:5686299 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9000197 Edema ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:19396522|REF_RGD_ID:4892316 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:2741 D RGD:9068941 20240215 RGD associated with adrenalectomy, female; mRNA:decreased expression:prefrontal cortex (rat) PMID:30367959|REF_RGD_ID:401966864 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:2741 D RGD:9068941 20240215 RGD associated with prenatal exposure delayed effects; mRNA:altered expression: hippocampus (rat) PMID:29251811|REF_RGD_ID:401965484 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:2741 D RGD:9068941 20240222 RGD mRNA:altered expr:brain (rat) PMID:29990678|REF_RGD_ID:401976282 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:2741 D RGD:9068941 20240222 RGD protein:altered expression:hippocampus (rat) PMID:10399770|REF_RGD_ID:401976290 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:2741 D RGD:9068941 20240222 RGD associated with stress-related disorder; mRNA:decreased expression:hippocampus (rat) PMID:16925589|REF_RGD_ID:401976289 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:2741 D RGD:9068941 20240210 RGD mRNA:altered expression:hippocampus|hypothalamus (rat) PMID:26180184|REF_RGD_ID:11074449 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:2741 D RGD:9068941 20240215 RGD associated with chronic stress, female fetus; protein:decreased expression:prefrontal cortex (rat) PMID:26342748|REF_RGD_ID:401965481 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:2741 D RGD:9068941 20240215 RGD associated with prenatal alcohol exposure, female; mRNA:decreased expression:hippocampus (rat) PMID:30367959|REF_RGD_ID:401966864 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:2741 D RGD:9068941 20240222 RGD mRNA:altered expr:brain (rat) PMID:29990678|REF_RGD_ID:401976282 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:20388836|REF_RGD_ID:4892120 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2741 D RGD:9068941 20200609 RGD associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney PMID:17272666|REF_RGD_ID:2308941 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10691 D RGD:9068941 20200609 RGD PMID:17322387|REF_RGD_ID:4892331 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:732227 D RGD:9068941 20200609 RGD protein:altered expression:nasal mucosa PMID:20185258|REF_RGD_ID:4892593 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9004283 Transplant Rejection ISO RGD:732227 D RGD:9068941 20200609 RGD protein:decreased activity:blood, mononuclear cell PMID:10959477|REF_RGD_ID:7174721 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9004484 Sepsis ISO RGD:10691 D RGD:9068941 20200609 RGD protein:decreased expression:alveolar macrophage PMID:21057058|REF_RGD_ID:4892317 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9004484 Sepsis treatment ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:21787473|REF_RGD_ID:7174711 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005158 Cushing Syndrome ISO RGD:10691 D RGD:9068941 20200609 RGD PMID:10471508|PMID:19635986|REF_RGD_ID:7174715|REF_RGD_ID:7174722 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005158 Cushing Syndrome ISO RGD:732227 D RGD:9068941 20200609 RGD protein:decreased activity:blood, mononuclear leukocyte PMID:10356629|REF_RGD_ID:7174723 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12805318|PMID:19234455 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2741 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:21744335|REF_RGD_ID:12879479 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005851 46, XX Disorders of Sex Development ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11932321 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9005930 Endotoxemia ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:15640646|REF_RGD_ID:4892561 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29802709 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732227 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007096 Stroke ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:20858282|REF_RGD_ID:4892205 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007730 Burns ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:11990926|REF_RGD_ID:7174720 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9007730 Burns treatment ISO RGD:2741 D RGD:9068941 20200609 RGD protein:decreased activity:liver, lung, kidney PMID:19216853|REF_RGD_ID:4892319 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9008669 Glucocorticoid Receptor Deficiency ISO RGD:732227 D RGD:7240710 20180130 OMIM 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9008669 Glucocorticoid Receptor Deficiency ISO RGD:732227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucocorticoid resistance | ClinVar Annotator: match by term: Glucocorticoid resistance, cellular | ClinVar Annotator: match by term: Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance PMID:11344238|PMID:11589680|PMID:11701741|PMID:11932321|PMID:12351458|PMID:14715855|PMID:15276593|PMID:15292341|PMID:15497438|PMID:16030164|PMID:16449337|PMID:16636127|PMID:1704018|PMID:17535992|PMID:17848410|PMID:186477|PMID:18854398|PMID:19435830|PMID:21912096|PMID:22445700|PMID:25741868|PMID:28492532|PMID:2996089|PMID:6282933|PMID:6841559|PMID:8316249|PMID:8445027|PMID:9150737|PMID:9435432 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9282 ocular hypertension ISO RGD:732227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17563720 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:17292727|REF_RGD_ID:4892117 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9970 obesity ISO RGD:2741 D RGD:9068941 20200609 RGD PMID:20723946|REF_RGD_ID:4892206 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9970 obesity ISO RGD:732227 D RGD:9068941 20200609 RGD associated with Depressive Disorder, Major;DNA:SNP:intron:IVS2+646C>G (human) PMID:18246526|REF_RGD_ID:7174717 8875061 Nr3c1 nuclear receptor subfamily 3 group C member 1 gene DOID:9970 obesity no_association ISO RGD:732227 D RGD:9068941 20200609 RGD protein:polymorphism:N363S PMID:16725041|REF_RGD_ID:1601498 8875084 Ntf4 neurotrophin 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8875084 Ntf4 neurotrophin 4 gene DOID:0111076 progressive familial heart block type IB ISO RGD:733149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 8875084 Ntf4 neurotrophin 4 gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:733149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 PMID:19765683|PMID:20215012|PMID:20463313|PMID:25741868|PMID:27535533 8875084 Ntf4 neurotrophin 4 gene DOID:1059 intellectual disability ISO RGD:733149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11357950 8875084 Ntf4 neurotrophin 4 gene DOID:12849 autistic disorder ISO RGD:733149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11357950|PMID:16289943 8875084 Ntf4 neurotrophin 4 gene DOID:2841 asthma ISO RGD:1553502 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:17497413|REF_RGD_ID:4891068 8875084 Ntf4 neurotrophin 4 gene DOID:630 genetic disease ISO RGD:733149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875084 Ntf4 neurotrophin 4 gene DOID:8927 learning disability ISO RGD:1553502 D RGD:9068941 20200609 RGD PMID:10869436|REF_RGD_ID:737722 8875084 Ntf4 neurotrophin 4 gene DOID:9002955 Nerve Degeneration ISO RGD:1553502 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8921280 8875084 Ntf4 neurotrophin 4 gene DOID:9002955 Nerve Degeneration ISO RGD:733149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8921280 8875084 Ntf4 neurotrophin 4 gene DOID:9007746 Glaucoma 1, Open Angle, O ISO RGD:733149 D RGD:7240710 20180130 OMIM 8875084 Ntf4 neurotrophin 4 gene DOID:9007746 Glaucoma 1, Open Angle, O ISO RGD:733149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, O PMID:19765683|PMID:20215012|PMID:20463313|PMID:25741868|PMID:27535533 8875084 Ntf4 neurotrophin 4 gene DOID:9008023 Memory Disorders ISO RGD:1553502 D RGD:9068941 20200609 RGD PMID:10869436|REF_RGD_ID:737722 8875091 Camk1g calcium/calmodulin dependent protein kinase IG gene DOID:1540 parathyroid carcinoma ISO RGD:732495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8875091 Camk1g calcium/calmodulin dependent protein kinase IG gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624525 8875091 Camk1g calcium/calmodulin dependent protein kinase IG gene DOID:630 genetic disease ISO RGD:732495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875091 Camk1g calcium/calmodulin dependent protein kinase IG gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8875108 Tada2a transcriptional adaptor 2A gene DOID:0060041 autism spectrum disorder ISO RGD:1320582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8875108 Tada2a transcriptional adaptor 2A gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1320582 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 8875108 Tada2a transcriptional adaptor 2A gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:1320582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 8875108 Tada2a transcriptional adaptor 2A gene DOID:12849 autistic disorder ISO RGD:1320582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8875108 Tada2a transcriptional adaptor 2A gene DOID:5419 schizophrenia ISO RGD:1320582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8875108 Tada2a transcriptional adaptor 2A gene DOID:630 genetic disease ISO RGD:1320582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875108 Tada2a transcriptional adaptor 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8875141 Rnf14 ring finger protein 14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8875141 Rnf14 ring finger protein 14 gene DOID:0111510 Marshall syndrome ISO RGD:1605715 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868|PMID:28492532 8875141 Rnf14 ring finger protein 14 gene DOID:630 genetic disease ISO RGD:1605715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28804758 8875141 Rnf14 ring finger protein 14 gene DOID:7765 Coats disease ISO RGD:1605715 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:25741868|PMID:30459466 8875141 Rnf14 ring finger protein 14 gene DOID:9002171 Diencephalic-Mesencephalic Junction Dysplasia Syndromes ISO RGD:1605715 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia PMID:22822038|PMID:25741868|PMID:30178464 8875141 Rnf14 ring finger protein 14 gene DOID:9002568 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 ISO RGD:1605715 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 PMID:22822038|PMID:25741868|PMID:27164683|PMID:28492532|PMID:29556033|PMID:30178464|PMID:33527719|PMID:7774041 8875141 Rnf14 ring finger protein 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8875141 Rnf14 ring finger protein 14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:0060669 cerebral cavernous malformation ISO RGD:1314251 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:10508515|PMID:10545614|PMID:10814716|PMID:11161805|PMID:11222804|PMID:11914398|PMID:11941540|PMID:11959162|PMID:12404106|PMID:12810002|PMID:12854741|PMID:14755725|PMID:15079030|PMID:16199547|PMID:16321204|PMID:16571644|PMID:17277691|PMID:17440989|PMID:17576681|PMID:18300272|PMID:18380023|PMID:18383588|PMID:19088123|PMID:19099113|PMID:19454328|PMID:19763152|PMID:20301470|PMID:20306072|PMID:20307669|PMID:20419355|PMID:21029238|PMID:22406018|PMID:23584803|PMID:23595507|PMID:24401931|PMID:24466005|PMID:24689081|PMID:24721395|PMID:25525159|PMID:25525273|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26682556|PMID:27766163|PMID:27790124|PMID:27792856|PMID:28000143|PMID:28492532|PMID:28645800|PMID:28745674|PMID:28867399|PMID:29593473|PMID:30161288|PMID:31124307|PMID:31254430|PMID:33651268|PMID:33891857|PMID:33911302|PMID:3393196|PMID:34558799|PMID:34634677|PMID:34964173|PMID:7898703|PMID:9065560|PMID:9536098 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:0060669 cerebral cavernous malformation susceptibility ISO RGD:1314251 D RGD:9068941 20200609 RGD PMID:15079030|REF_RGD_ID:1598379 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:0080491 cerebral cavernous malformation 1 ISO RGD:1314251 D RGD:7240710 20190227 OMIM 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:0080491 cerebral cavernous malformation 1 ISO RGD:1314251 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: Cerebral cavernous malformations 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders PMID:10508515|PMID:10545614|PMID:10814716|PMID:11222804|PMID:11914398|PMID:11941540|PMID:12404106|PMID:12854741|PMID:14755725|PMID:16571644|PMID:17562932|PMID:19088123|PMID:19454328|PMID:20301470|PMID:24007869|PMID:24401931|PMID:24689081|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29593473|PMID:3393196|PMID:7898703|PMID:9065560 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:1826 epilepsy ISO RGD:1314251 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:2843 long QT syndrome ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:483 cavernous hemangioma ISO RGD:1314251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cavernous hemangioma PMID:10508515|PMID:10545614|PMID:11222804|PMID:12404106|PMID:23595507|PMID:24466005|PMID:24689081|PMID:25741868|PMID:28492532 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:630 genetic disease ISO RGD:1314251 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25525273|PMID:25741868|PMID:28492532|PMID:9536098 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:8725 vascular dementia ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:9000043 Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas PMID:20419355|PMID:25525273|PMID:25741868|PMID:26467025|PMID:28492532 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:9002924 Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations PMID:10814716 8875157 Krit1 KRIT1 ankyrin repeat containing gene DOID:9008078 Cavernous Malformations of CNS and Retina ISO RGD:1314251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cavernous malformations of CNS and retina PMID:11831930 8875185 Megf11 multiple EGF like domains 11 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1603600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8875185 Megf11 multiple EGF like domains 11 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8875185 Megf11 multiple EGF like domains 11 gene DOID:2717 Bloom syndrome ISO RGD:1603600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8875185 Megf11 multiple EGF like domains 11 gene DOID:630 genetic disease ISO RGD:1603600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875185 Megf11 multiple EGF like domains 11 gene DOID:9256 colorectal cancer ISO RGD:1603600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8875214 Mef2c myocyte enhancer factor 2C gene DOID:0060041 autism spectrum disorder ISO RGD:1349172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:20513142|PMID:25741868|PMID:26633542|PMID:28492532|PMID:29468350|PMID:29720203|PMID:30376817|PMID:30504930|PMID:30763456|PMID:33994118|PMID:34055696 8875214 Mef2c myocyte enhancer factor 2C gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1349172 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy 8875214 Mef2c myocyte enhancer factor 2C gene DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ISO RGD:1349172 D RGD:7240710 20180130 OMIM 8875214 Mef2c myocyte enhancer factor 2C gene DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language ISO RGD:1349172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE PMID:16199547|PMID:17576681|PMID:18414213|PMID:19592390|PMID:19876902|PMID:20333642|PMID:20513142|PMID:20674574|PMID:22031302|PMID:22498567|PMID:23001426|PMID:23389741|PMID:24088041|PMID:25131622|PMID:25741868|PMID:25741869|PMID:26633542|PMID:26633545|PMID:27255693|PMID:27748065|PMID:28492532|PMID:28554332|PMID:28794905|PMID:29159939|PMID:29468350|PMID:29706646|PMID:29720203|PMID:29863696|PMID:30376817|PMID:30504930|PMID:30763456|PMID:31512412|PMID:32123317|PMID:33994118|PMID:34022131|PMID:34055696|PMID:7679508|PMID:9384584|PMID:9536098 8875214 Mef2c myocyte enhancer factor 2C gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8875214 Mef2c myocyte enhancer factor 2C gene DOID:1059 intellectual disability ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:20513142|PMID:25741868|PMID:28492532|PMID:29720203|PMID:30376817|PMID:30763456 8875214 Mef2c myocyte enhancer factor 2C gene DOID:12849 autistic disorder ISO RGD:1349172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131610 8875214 Mef2c myocyte enhancer factor 2C gene DOID:12930 dilated cardiomyopathy ISO RGD:1621607 D RGD:9068941 20200609 RGD PMID:16469744|REF_RGD_ID:1580546 8875214 Mef2c myocyte enhancer factor 2C gene DOID:1824 status epilepticus ISO RGD:1349172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949272 8875214 Mef2c myocyte enhancer factor 2C gene DOID:1824 status epilepticus ISO RGD:1563119 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:18949272|REF_RGD_ID:5131610 8875214 Mef2c myocyte enhancer factor 2C gene DOID:1826 epilepsy ISO RGD:1349172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 8875214 Mef2c myocyte enhancer factor 2C gene DOID:2303 stereotypic movement disorder ISO RGD:1349172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20412115 8875214 Mef2c myocyte enhancer factor 2C gene DOID:5844 myocardial infarction treatment ISO RGD:1563119 D RGD:9068941 20200609 RGD PMID:23948075|REF_RGD_ID:7327215 8875214 Mef2c myocyte enhancer factor 2C gene DOID:630 genetic disease ISO RGD:1349172 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20513142|PMID:20674574|PMID:22498567|PMID:25741868|PMID:28492532|PMID:30376817|PMID:31512412|PMID:9384584 8875214 Mef2c myocyte enhancer factor 2C gene DOID:630 genetic disease ISO RGD:1349172 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:20513142|PMID:20674574|PMID:22498567|PMID:25741868|PMID:28492532|PMID:30376817|PMID:31512412|PMID:32123317|PMID:34022131|PMID:9384584 8875214 Mef2c myocyte enhancer factor 2C gene DOID:9001793 Generalized Epilepsy ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:32581362 8875214 Mef2c myocyte enhancer factor 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34022131 8875214 Mef2c myocyte enhancer factor 2C gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1621607 D RGD:9068941 20200609 RGD PMID:20041152|REF_RGD_ID:5131608 8875214 Mef2c myocyte enhancer factor 2C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1563119 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:18413674|REF_RGD_ID:2312263 8875214 Mef2c myocyte enhancer factor 2C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8875214 Mef2c myocyte enhancer factor 2C gene DOID:9255 frontotemporal dementia ISO RGD:1349172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 8875263 Catsper2 cation channel sperm associated 2 gene DOID:0070173 spermatogenic failure 7 ISO RGD:1316921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8875263 Catsper2 cation channel sperm associated 2 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:11687802|PMID:21681106|PMID:25741868|PMID:26011646 8875263 Catsper2 cation channel sperm associated 2 gene DOID:12336 male infertility ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 8875263 Catsper2 cation channel sperm associated 2 gene DOID:2717 Bloom syndrome ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8875263 Catsper2 cation channel sperm associated 2 gene DOID:5223 infertility ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility 8875263 Catsper2 cation channel sperm associated 2 gene DOID:630 genetic disease ISO RGD:1316921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875263 Catsper2 cation channel sperm associated 2 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:19344877|PMID:24033266|PMID:25741868 8875263 Catsper2 cation channel sperm associated 2 gene DOID:9004538 Hearing Loss ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment 8875263 Catsper2 cation channel sperm associated 2 gene DOID:9256 colorectal cancer ISO RGD:1316921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0050451 Brugada syndrome ISO RGD:1345144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345144 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0050745 diffuse large B-cell lymphoma severity ISO RGD:1345144 D RGD:9068941 20220317 RGD DNA:missense mutation:L265P (human) PMID:31609782|REF_RGD_ID:151665203 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0050860 colorectal adenoma ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:30063920|REF_RGD_ID:150519915 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211231 RGD RNA:decreased expression:colon (human) PMID:28533893|REF_RGD_ID:150540307 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0050873 follicular lymphoma ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0060058 lymphoma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1345144 D RGD:7240710 20200701 OMIM 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:1345144 D RGD:9068941 20211105 RGD human cell line in a mouse model PMID:31746347|REF_RGD_ID:150520167 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211022 RGD mRNA:increased expression:colon (human) PMID:30221070|REF_RGD_ID:150519917 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:25790822|REF_RGD_ID:150519907 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:0080599 Coronavirus infectious disease ISO RGD:1551097 D RGD:9068941 20220825 MouseDO 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:10534 stomach cancer ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:23728346|REF_RGD_ID:150519918 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:10534 stomach cancer onset ISO RGD:1551097 D RGD:9068941 20211022 RGD associated with Helicobacter Infections PMID:24166959|REF_RGD_ID:150519913 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:10763 hypertension ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27292124 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:11168 anogenital venereal wart ISO RGD:1345144 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:12253 testicular lymphoma ISO RGD:730908 D RGD:9068941 20211203 RGD associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human) PMID:28868954|REF_RGD_ID:150524335 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:1324 lung cancer exacerbates ISO RGD:1345144 D RGD:9068941 20211112 RGD human cell line in a mouse model PMID:22938463|REF_RGD_ID:150521529 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:13250 diarrhea ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:20624890|REF_RGD_ID:150520020 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:13619 extrahepatic cholestasis ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:1520 colon carcinoma treatment ISO RGD:1551097 D RGD:9068941 20211105 RGD mouse cell line in a mouse model PMID:20823152|REF_RGD_ID:150520170 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:1612 breast cancer exacerbates ISO RGD:1345144 D RGD:9068941 20211203 RGD RNA:increased expression:breast (human) PMID:26596839|REF_RGD_ID:150524333 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:1909 melanoma treatment ISO RGD:1551097 D RGD:9068941 20211105 RGD mouse cell line in a mouse model PMID:20823152|REF_RGD_ID:150520170 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:2043 hepatitis B ISO RGD:1345144 D RGD:9068941 20211105 RGD associated with hepatocellular carcinoma;protein:decreased expression:liver (human) PMID:28370778|REF_RGD_ID:150520169 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:219 colon cancer ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:23184679|REF_RGD_ID:150520021 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:2326 gastroenteritis treatment ISO RGD:1551097 D RGD:9068941 20211231 RGD associated with colorectal adenocarcinoma; mouse cell line in a mouse model PMID:31936237|REF_RGD_ID:150540308 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:234 colon adenocarcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211112 RGD human cell line in a mouse model PMID:18538140|REF_RGD_ID:150521533 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:2355 anemia ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:17615359|REF_RGD_ID:150519908 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:2841 asthma ameliorates ISO RGD:1551097 D RGD:9068941 20211112 RGD PMID:26882889|REF_RGD_ID:11531666 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:2945 severe acute respiratory syndrome ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:3234 central nervous system lymphoma treatment ISO RGD:1345144 D RGD:9068941 20220317 RGD PMID:28619981|REF_RGD_ID:151665208 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:3459 breast carcinoma ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:22088941|REF_RGD_ID:150519914 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:3459 breast carcinoma treatment ISO RGD:1551097 D RGD:9068941 20211105 RGD mouse cell line in a mouse model PMID:20823152|REF_RGD_ID:150520170 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345144 D RGD:9068941 20211022 RGD protein:increased expression:lung (human) PMID:31432177|REF_RGD_ID:150519919 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1345144 D RGD:9068941 20211203 RGD DNA:hypomethylation:promoter (human) PMID:32010578|REF_RGD_ID:150524328 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1551097 D RGD:9068941 20211231 RGD PMID:30712876|REF_RGD_ID:150540309 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1551097 D RGD:9068941 20211105 RGD mouse cell line in a mouse model PMID:32140881|REF_RGD_ID:150520172 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:5041 esophageal cancer ISO RGD:1345144 D RGD:9068941 20211022 RGD mRNA:splice variants:esophagus (human) PMID:24527027|REF_RGD_ID:150519911 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:552 pneumonia ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:630 genetic disease ISO RGD:1345144 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:6536 plasma cell neoplasm ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma ISO RGD:1345144 D RGD:9068941 20211022 RGD mRNA:increased expression:liver (human) PMID:29022910|REF_RGD_ID:150520022 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma ISO RGD:1345144 D RGD:9068941 20211203 RGD protein:increased expression:liver (human) PMID:26985932|REF_RGD_ID:150524330 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1551097 D RGD:9068941 20211112 RGD PMID:17615358|REF_RGD_ID:150521532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211105 RGD protein, mRNA:decreased expression:liver (human) PMID:28370778|REF_RGD_ID:150520169 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1345144 D RGD:9068941 20211210 RGD human gene and cell in a mouse model PMID:24603331|REF_RGD_ID:150530285 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1345144 D RGD:9068941 20211203 RGD human cell line in a mouse model PMID:32144747|REF_RGD_ID:150524327 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1551097 D RGD:9068941 20211203 RGD mouse cell line in a mouse model PMID:31074165|REF_RGD_ID:150524334 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:735043 D RGD:9068941 20211203 RGD PMID:31068809|PMID:33575076|REF_RGD_ID:150521534|REF_RGD_ID:150524329 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:7442 monoclonal gammopathy of uncertain significance ISO RGD:1551097 D RGD:9068941 20220825 MouseDO 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:1551097 D RGD:9068941 20211112 RGD PMID:25362351|REF_RGD_ID:150521530 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9000217 Stomach Neoplasms ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:26888865|REF_RGD_ID:150519909 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9001371 Eosinophilia ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9001436 Immunodeficiency 68 ISO RGD:1345144 D RGD:7240710 20180130 OMIM 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9001436 Immunodeficiency 68 ISO RGD:1345144 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:16199547|PMID:17576681|PMID:18669862|PMID:19506249|PMID:20538326|PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:24316379|PMID:24728327|PMID:25741868|PMID:26619011|PMID:28492532|PMID:31301515|PMID:9536098 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9001642 Intestinal Polyps ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:17615359|REF_RGD_ID:150519908 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9002457 Experimental Arthritis ISO RGD:1551097 D RGD:9068941 20200609 RGD PMID:20131263|REF_RGD_ID:8552884 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9003321 Bacterial Keratitis ISO RGD:1551097 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9003321 Bacterial Keratitis ISO RGD:1551097 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections; PMID:16926427|REF_RGD_ID:8552819 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9003571 Paraproteinemias ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:1551097 D RGD:9068941 20211112 RGD mouse cell line in a mouse model PMID:26111447|REF_RGD_ID:150521531 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9004009 Reperfusion Injury ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25780291 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9004271 Colonic Polyps ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:20624890|REF_RGD_ID:150520020 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21473897 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:1551097 D RGD:9068941 20211210 RGD PMID:21519141|PMID:26712311|REF_RGD_ID:150520168|REF_RGD_ID:150530283 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9004831 Colitis-Associated Neoplasms exacerbates ISO RGD:1551097 D RGD:9068941 20211210 RGD PMID:29960049|PMID:30650348|REF_RGD_ID:150521528|REF_RGD_ID:150530281 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9005372 Inflammation ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22053092 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9007346 Cachexia ameliorates ISO RGD:1551097 D RGD:9068941 20211210 RGD associated with Carcinoma, Lewis Lung PMID:31138662|REF_RGD_ID:150530282 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ameliorates ISO RGD:1551097 D RGD:9068941 20211112 RGD PMID:17615358|REF_RGD_ID:150521532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735043 D RGD:9068941 20200609 RGD PMID:14962484|REF_RGD_ID:1302746 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9008114 Helicobacter Infections ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:28201999|REF_RGD_ID:150519916 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1345144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9008691 Liver Injury disease_progression ISO RGD:1620111 D RGD:9068941 20211203 RGD PMID:30770929|REF_RGD_ID:150524332 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9009054 Colorectal Cancer 10 ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:33177648|REF_RGD_ID:150519912 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9256 colorectal cancer ameliorates ISO RGD:1551097 D RGD:9068941 20211022 RGD PMID:30221070|REF_RGD_ID:150519917 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345144 D RGD:9068941 20211105 RGD mRNA:decreased expression:colon (human) PMID:24887488|REF_RGD_ID:150520171 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9256 colorectal cancer severity ISO RGD:1345144 D RGD:9068941 20211203 RGD DNA:SNP:promoter: (rs4988453) (human) PMID:24154872|REF_RGD_ID:150524331 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9256 colorectal cancer severity ISO RGD:1345144 D RGD:9068941 20211203 RGD protein:increased expression:colonic mucosa (human) PMID:20145615|REF_RGD_ID:150524336 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9498 pulmonary eosinophilia ISO RGD:1345144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29067999 8875280 Myd88 MYD88 innate immune signal transduction adaptor gene DOID:9538 multiple myeloma ISO RGD:1345144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:21179087|PMID:22931316|PMID:23215570|PMID:23355535|PMID:26619011|PMID:28492532 8875293 Bmp5 bone morphogenetic protein 5 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1314331 D RGD:9068941 20220825 MouseDO OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 8875293 Bmp5 bone morphogenetic protein 5 gene DOID:630 genetic disease ISO RGD:1314330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875310 Rad51ap1 RAD51 associated protein 1 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1353541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8875310 Rad51ap1 RAD51 associated protein 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8875310 Rad51ap1 RAD51 associated protein 1 gene DOID:630 genetic disease ISO RGD:1353541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875310 Rad51ap1 RAD51 associated protein 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1353541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8875344 LOC102004294 cytochrome P450 4F22 gene DOID:0060041 autism spectrum disorder ISO RGD:1606166 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8875344 LOC102004294 cytochrome P450 4F22 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1606166 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:16436457|PMID:23621129|PMID:25741868|PMID:25998749|PMID:26056268|PMID:26646773|PMID:27025581|PMID:28492532|PMID:30011118|PMID:31625567|PMID:31876103|PMID:32069299|PMID:33067036|PMID:33786896 8875344 LOC102004294 cytochrome P450 4F22 gene DOID:0060714 autosomal recessive congenital ichthyosis 5 ISO RGD:1606166 D RGD:7240710 20180130 OMIM 8875344 LOC102004294 cytochrome P450 4F22 gene DOID:0060714 autosomal recessive congenital ichthyosis 5 ISO RGD:1606166 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 PMID:16436457|PMID:18034255|PMID:22992804|PMID:23621129|PMID:23871423|PMID:24397709|PMID:25741868|PMID:25998749|PMID:26056268|PMID:26646773|PMID:26762237|PMID:27025581|PMID:27449533|PMID:27735052|PMID:28492532|PMID:30011118|PMID:31625567|PMID:31876103|PMID:32069299|PMID:33067036|PMID:33223529|PMID:33786896 8875344 LOC102004294 cytochrome P450 4F22 gene DOID:3310 atopic dermatitis ISO RGD:1606166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atopic eczema PMID:25741868 8875344 LOC102004294 cytochrome P450 4F22 gene DOID:630 genetic disease ISO RGD:1606166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875362 Tox thymocyte selection associated high mobility group box gene DOID:630 genetic disease ISO RGD:1605410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875385 Trmt11 tRNA methyltransferase 11 homolog gene DOID:3068 glioblastoma ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8875385 Trmt11 tRNA methyltransferase 11 homolog gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8875385 Trmt11 tRNA methyltransferase 11 homolog gene DOID:630 genetic disease ISO RGD:1314969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875385 Trmt11 tRNA methyltransferase 11 homolog gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8875385 Trmt11 tRNA methyltransferase 11 homolog gene DOID:9000117 Esophageal Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8875385 Trmt11 tRNA methyltransferase 11 homolog gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8875385 Trmt11 tRNA methyltransferase 11 homolog gene DOID:9002928 Colonic Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8875385 Trmt11 tRNA methyltransferase 11 homolog gene DOID:9007188 Liver Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8875385 Trmt11 tRNA methyltransferase 11 homolog gene DOID:9008939 Breast Neoplasms ISO RGD:1314969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8875416 Mkrn1 makorin ring finger protein 1 gene DOID:0080690 RASopathy ISO RGD:1347564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8875416 Mkrn1 makorin ring finger protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8875416 Mkrn1 makorin ring finger protein 1 gene DOID:630 genetic disease ISO RGD:1347564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875429 Helz2 helicase with zinc finger 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8875429 Helz2 helicase with zinc finger 2 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1604565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8875429 Helz2 helicase with zinc finger 2 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1604565 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8875429 Helz2 helicase with zinc finger 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8875429 Helz2 helicase with zinc finger 2 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1604565 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8875429 Helz2 helicase with zinc finger 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 8875429 Helz2 helicase with zinc finger 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8875429 Helz2 helicase with zinc finger 2 gene DOID:630 genetic disease ISO RGD:1604565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875429 Helz2 helicase with zinc finger 2 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1604565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 8875456 Pif1 PIF1 5'-to-3' DNA helicase gene DOID:0110935 nemaline myopathy 6 ISO RGD:1316743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8875456 Pif1 PIF1 5'-to-3' DNA helicase gene DOID:2717 Bloom syndrome ISO RGD:1316743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8875456 Pif1 PIF1 5'-to-3' DNA helicase gene DOID:630 genetic disease ISO RGD:1316743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875456 Pif1 PIF1 5'-to-3' DNA helicase gene DOID:9007479 Habitual Abortions ISO RGD:1316743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 8875456 Pif1 PIF1 5'-to-3' DNA helicase gene DOID:9256 colorectal cancer ISO RGD:1316743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8875475 Wdr5b WD repeat domain 5B gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1318414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8875475 Wdr5b WD repeat domain 5B gene DOID:630 genetic disease ISO RGD:1318414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875475 Wdr5b WD repeat domain 5B gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8875475 Wdr5b WD repeat domain 5B gene DOID:9270 alkaptonuria ISO RGD:1318414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8875480 Tgm4 transglutaminase 4 gene DOID:4990 essential tremor ISO RGD:1343082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 8875480 Tgm4 transglutaminase 4 gene DOID:630 genetic disease ISO RGD:1343082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875499 Tdp2 tyrosyl-DNA phosphodiesterase 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1348894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 8875499 Tdp2 tyrosyl-DNA phosphodiesterase 2 gene DOID:0111613 autosomal recessive spinocerebellar ataxia 23 ISO RGD:1348894 D RGD:7240710 20190315 OMIM 8875499 Tdp2 tyrosyl-DNA phosphodiesterase 2 gene DOID:0111613 autosomal recessive spinocerebellar ataxia 23 ISO RGD:1348894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23 PMID:24658003|PMID:25741868|PMID:30109272 8875499 Tdp2 tyrosyl-DNA phosphodiesterase 2 gene DOID:630 genetic disease ISO RGD:1348894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875499 Tdp2 tyrosyl-DNA phosphodiesterase 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1348894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8875513 Rnf144a ring finger protein 144A gene DOID:630 genetic disease ISO RGD:1343789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875561 Yipf3 Yip1 domain family member 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1317816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8875561 Yipf3 Yip1 domain family member 3 gene DOID:4450 renal cell carcinoma ISO RGD:1317816 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8875561 Yipf3 Yip1 domain family member 3 gene DOID:630 genetic disease ISO RGD:1317816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875561 Yipf3 Yip1 domain family member 3 gene DOID:905 Zellweger syndrome ISO RGD:1317816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8875574 Il17rc interleukin 17 receptor C gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 8875574 Il17rc interleukin 17 receptor C gene DOID:2843 long QT syndrome ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8875574 Il17rc interleukin 17 receptor C gene DOID:630 genetic disease ISO RGD:1314983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8875574 Il17rc interleukin 17 receptor C gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1306392 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 8875574 Il17rc interleukin 17 receptor C gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17603628 8875574 Il17rc interleukin 17 receptor C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8875574 Il17rc interleukin 17 receptor C gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1314983 D RGD:7240710 20180130 OMIM 8875574 Il17rc interleukin 17 receptor C gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1314983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition PMID:16199547|PMID:17576681|PMID:25741868|PMID:25918342|PMID:28492532|PMID:9536098 8875574 Il17rc interleukin 17 receptor C gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1314983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:0050632 oculocutaneous albinism ISO RGD:1351708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:0050633 ocular albinism 1 ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:25741868|PMID:28492532 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1351708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF PMID:18680187|PMID:28492532|PMID:8651291|PMID:9345097 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:0070097 oculocutaneous albinism type III ISO RGD:1351708 D RGD:7240710 20180130 OMIM 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:0070097 oculocutaneous albinism type III ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 3 | ClinVar Annotator: match by term: TYRP1-related condition PMID:15996218|PMID:16199547|PMID:16704458|PMID:17576681|PMID:18326704|PMID:18680187|PMID:18821858|PMID:19533799|PMID:21739261|PMID:23504663|PMID:23862152|PMID:24033266|PMID:25741868|PMID:27734839|PMID:28041643|PMID:28266639|PMID:28492532|PMID:28976636|PMID:29345414|PMID:31233279|PMID:31719542|PMID:8651291|PMID:9345097|PMID:9536098 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:1909 melanoma ISO RGD:1351708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:299 adenocarcinoma ISO RGD:1351708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:630 genetic disease ISO RGD:1351708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:9001386 Albinism ISO RGD:1351708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Albinism PMID:16199547|PMID:25741868|PMID:28041643|PMID:28492532|PMID:8651291|PMID:9345097 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:9003119 Nonsyndromic Oculocutaneous Albinism ISO RGD:1351708 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism PMID:16704458|PMID:21739261|PMID:25741868|PMID:28266639|PMID:28492532 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:9003127 Skin/Hair/Eye Pigmentation, Variation In, 11 ISO RGD:1351708 D RGD:7240710 20180130 OMIM 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:9003127 Skin/Hair/Eye Pigmentation, Variation In, 11 ISO RGD:1351708 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 11 PMID:22556244|PMID:24449225|PMID:28492532 8875618 Tyrp1 tyrosinase related protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1351708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8875630 Dock1 dedicator of cytokinesis 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1315227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8875630 Dock1 dedicator of cytokinesis 1 gene DOID:0080600 COVID-19 ISO RGD:1315227 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8875630 Dock1 dedicator of cytokinesis 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1315228 D RGD:9068941 20220825 MouseDO OMIM:188400 8875630 Dock1 dedicator of cytokinesis 1 gene DOID:303 substance-related disorder ISO RGD:1315227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8875630 Dock1 dedicator of cytokinesis 1 gene DOID:630 genetic disease ISO RGD:1315227 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17670792|PMID:17765544|PMID:18332221|PMID:18591431|PMID:18820033|PMID:20829512|PMID:25022758|PMID:25741868|PMID:26527617|PMID:27662902|PMID:3372592 8875630 Dock1 dedicator of cytokinesis 1 gene DOID:6419 tetralogy of Fallot ISO RGD:1315228 D RGD:9068941 20220825 MouseDO OMIM:187500 8875630 Dock1 dedicator of cytokinesis 1 gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:1315227 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Temporomandibular joint disorder PMID:25741868 8875688 Gja4 gap junction protein alpha 4 gene DOID:0001816 angiosarcoma ISO RGD:731518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 8875688 Gja4 gap junction protein alpha 4 gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous venous malformation PMID:33912852 8875688 Gja4 gap junction protein alpha 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8875688 Gja4 gap junction protein alpha 4 gene DOID:10763 hypertension ISO RGD:731518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16448880 8875688 Gja4 gap junction protein alpha 4 gene DOID:271 hemangioma of liver ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatic hemangioma PMID:33912852 8875688 Gja4 gap junction protein alpha 4 gene DOID:3393 coronary artery disease ISO RGD:731518 D RGD:9068941 20200609 RGD DNA:SNP:CDS:1019C>T, amino acid P319S, in men both with and without Diabetes Mellitus, Type 2 (MeSH:D003924) PMID:15059615|REF_RGD_ID:1626412 8875688 Gja4 gap junction protein alpha 4 gene DOID:3393 coronary artery disease ISO RGD:731518 D RGD:9068941 20200609 RGD DNA:SNP:CDS:C allele of 1019C>T, amino acid P319S in men only (p = 0.0047) in a Swiss population PMID:16677656|REF_RGD_ID:1626615 8875688 Gja4 gap junction protein alpha 4 gene DOID:471 skin hemangioma ISO RGD:731518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin hemangioma PMID:33912852 8875688 Gja4 gap junction protein alpha 4 gene DOID:5199 ureteral obstruction ISO RGD:2691 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:12644912|REF_RGD_ID:7207847 8875688 Gja4 gap junction protein alpha 4 gene DOID:5844 myocardial infarction ISO RGD:731518 D RGD:9068941 20200609 RGD PMID:15982495|REF_RGD_ID:1580400 8875688 Gja4 gap junction protein alpha 4 gene DOID:5844 myocardial infarction ISO RGD:731518 D RGD:9068941 20200609 RGD DNA:SNP:CDS:T allele of 1019C>T in Japanese men (p<0.001) PMID:12477941|REF_RGD_ID:1626626 8875688 Gja4 gap junction protein alpha 4 gene DOID:5844 myocardial infarction ISO RGD:731518 D RGD:9068941 20200609 RGD associated with coronary artery disease; DNA:SNP:CDS:C allele of 1019C>T, amino acid P319S (p = 0.0026) in a Swiss population PMID:16677656|REF_RGD_ID:1626615 8875688 Gja4 gap junction protein alpha 4 gene DOID:630 genetic disease ISO RGD:731518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875688 Gja4 gap junction protein alpha 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8875694 Tma16 translation machinery associated 16 homolog gene DOID:630 genetic disease ISO RGD:1605071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875708 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0050763 ARC syndrome ISO RGD:1351893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190753 8875708 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0050763 ARC syndrome ISO RGD:1618250 D RGD:9068941 20220825 MouseDO OMIM:208085 | OMIM:613404 8875708 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1351893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 8875708 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:1351893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868|PMID:31319225 8875708 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 ISO RGD:1351893 D RGD:7240710 20190918 OMIM 8875708 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 ISO RGD:1351893 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 PMID:20190753|PMID:25741868|PMID:28492532|PMID:31479177 8875708 Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog gene DOID:630 genetic disease ISO RGD:1351893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8875735 Sec23a SEC23 homolog A, COPII coat complex component gene DOID:0070307 craniolenticulosutural dysplasia ISO RGD:1354109 D RGD:7240710 20180130 OMIM 8875735 Sec23a SEC23 homolog A, COPII coat complex component gene DOID:0070307 craniolenticulosutural dysplasia ISO RGD:1354109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniolenticulosutural dysplasia PMID:16980979|PMID:17576681|PMID:17981132|PMID:21039434|PMID:22298774|PMID:25741868|PMID:28492532|PMID:34580982|PMID:9536098 8875735 Sec23a SEC23 homolog A, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1354109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8875735 Sec23a SEC23 homolog A, COPII coat complex component gene DOID:8398 osteoarthritis ISO RGD:1354109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8875735 Sec23a SEC23 homolog A, COPII coat complex component gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1354109 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8875775 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8875775 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:0111940 immunodeficiency 42 ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8875775 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8875775 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8875775 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:1540 parathyroid carcinoma ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8875775 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:5812 MHC class II deficiency ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8875775 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8875775 Zbtb7b zinc finger and BTB domain containing 7B gene DOID:9970 obesity ISO RGD:1314302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 8875785 Slc37a2 solute carrier family 37 member 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8875785 Slc37a2 solute carrier family 37 member 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8875785 Slc37a2 solute carrier family 37 member 2 gene DOID:5419 schizophrenia ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8875785 Slc37a2 solute carrier family 37 member 2 gene DOID:630 genetic disease ISO RGD:1313712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875785 Slc37a2 solute carrier family 37 member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8875785 Slc37a2 solute carrier family 37 member 2 gene DOID:9007661 Dwarfism ISO RGD:1313712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8875818 Cdc42se2 CDC42 small effector 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8875818 Cdc42se2 CDC42 small effector 2 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1343863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 8875818 Cdc42se2 CDC42 small effector 2 gene DOID:630 genetic disease ISO RGD:1343863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875818 Cdc42se2 CDC42 small effector 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8875818 Cdc42se2 CDC42 small effector 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343863 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8875834 Znf318 zinc finger protein 318 gene DOID:0050444 infantile Refsum disease ISO RGD:1318587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8875834 Znf318 zinc finger protein 318 gene DOID:630 genetic disease ISO RGD:1318587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875834 Znf318 zinc finger protein 318 gene DOID:905 Zellweger syndrome ISO RGD:1318587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8875854 Tbc1d22b TBC1 domain family member 22B gene DOID:630 genetic disease ISO RGD:1353872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875871 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8875871 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 8875871 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:1059 intellectual disability ISO RGD:1606794 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:35887114 8875871 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:12849 autistic disorder ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8875871 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606794 D RGD:9068941 20230608 RGD mRNA:decreased expression:heart (human) PMID:28949795|REF_RGD_ID:329849000 8875871 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:17576681|PMID:23286373|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28346479|PMID:28492532|PMID:29358611|PMID:31602316|PMID:31780880|PMID:9536098 8875871 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:26467025|PMID:28346479|PMID:28492532|PMID:29358611 8875871 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:5419 schizophrenia ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8875871 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:630 genetic disease ISO RGD:1606794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8875871 Rbfox1 RNA binding fox-1 homolog 1 gene DOID:9256 colorectal cancer ISO RGD:1606794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8875947 Elf3 E74 like ETS transcription factor 3 gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1321734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 8875947 Elf3 E74 like ETS transcription factor 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8875947 Elf3 E74 like ETS transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8875947 Elf3 E74 like ETS transcription factor 3 gene DOID:630 genetic disease ISO RGD:1321734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875947 Elf3 E74 like ETS transcription factor 3 gene DOID:9000310 Lung Injury ISO RGD:1321734 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21709667 8875947 Elf3 E74 like ETS transcription factor 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321734 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8875947 Elf3 E74 like ETS transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8875960 Lurap1 leucine rich adaptor protein 1 gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1605156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O PMID:19299310|PMID:20816175|PMID:21447391|PMID:26908613|PMID:27391550|PMID:28492532 8875960 Lurap1 leucine rich adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1605156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875978 Krt40 keratin 40 gene DOID:630 genetic disease ISO RGD:1606169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8875990 Rhno1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1602857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8876005 Luzp4 leucine zipper protein 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8876005 Luzp4 leucine zipper protein 4 gene DOID:12849 autistic disorder ISO RGD:1352485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8876005 Luzp4 leucine zipper protein 4 gene DOID:630 genetic disease ISO RGD:1352485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876021 Ccdc13 coiled-coil domain containing 13 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1350707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8876021 Ccdc13 coiled-coil domain containing 13 gene DOID:630 genetic disease ISO RGD:1350707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876044 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1317745 D RGD:9068941 20220825 MouseDO 8876044 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8876044 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0111638 autosomal recessive nonsyndromic deafness 100 ISO RGD:1604040 D RGD:7240710 20190605 OMIM 8876044 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:0111638 autosomal recessive nonsyndromic deafness 100 ISO RGD:1604040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 100 PMID:15538632|PMID:25741868|PMID:29590114 8876044 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:10283 prostate cancer ISO RGD:1604040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8876044 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:630 genetic disease ISO RGD:1604040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876044 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8876044 Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8876101 Psmd11 proteasome 26S subunit, non-ATPase 11 gene DOID:630 genetic disease ISO RGD:1315074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876101 Psmd11 proteasome 26S subunit, non-ATPase 11 gene DOID:9004590 Acute Liver Failure ISO RGD:1315074 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 8876120 Rnf149 ring finger protein 149 gene DOID:630 genetic disease ISO RGD:1318240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876132 Il22 interleukin 22 gene DOID:2048 autoimmune hepatitis ISO RGD:1344987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 8876132 Il22 interleukin 22 gene DOID:2841 asthma ISO RGD:1344987 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21297073|REF_RGD_ID:5147403 8876132 Il22 interleukin 22 gene DOID:2841 asthma severity ISO RGD:1344987 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:21535180|REF_RGD_ID:5147409 8876132 Il22 interleukin 22 gene DOID:2841 asthma treatment ISO RGD:1561292 D RGD:9068941 20200609 RGD PMID:21998459|REF_RGD_ID:11046261 8876132 Il22 interleukin 22 gene DOID:3525 middle cerebral artery infarction ISO RGD:1344987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 8876132 Il22 interleukin 22 gene DOID:399 tuberculosis ISO RGD:1344987 D RGD:9068941 20200609 RGD PMID:21767990|REF_RGD_ID:5147402 8876132 Il22 interleukin 22 gene DOID:4483 rhinitis severity ISO RGD:1344987 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:21535180|REF_RGD_ID:5147409 8876132 Il22 interleukin 22 gene DOID:630 genetic disease ISO RGD:1344987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876132 Il22 interleukin 22 gene DOID:820 myocarditis ISO RGD:1561292 D RGD:9068941 20200609 RGD PMID:16951323|REF_RGD_ID:5147414 8876132 Il22 interleukin 22 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1344987 D RGD:9068941 20200609 RGD PMID:20463292|REF_RGD_ID:5147406 8876132 Il22 interleukin 22 gene DOID:9000955 Acute Otitis Media disease_progression ISO RGD:1561292 D RGD:9068941 20201118 RGD protein:increased expression:serum (rat) PMID:27497403|REF_RGD_ID:40818299 8876132 Il22 interleukin 22 gene DOID:9001415 Mycobacterium Infections ISO RGD:1344987 D RGD:9068941 20200609 RGD PMID:19864591|REF_RGD_ID:5147407 8876132 Il22 interleukin 22 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1561292 D RGD:9068941 20200609 RGD PMID:19269041|REF_RGD_ID:2311529 8876132 Il22 interleukin 22 gene DOID:9004484 Sepsis ISO RGD:1561292 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19664145|REF_RGD_ID:5147412 8876132 Il22 interleukin 22 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344987 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15122762|PMID:16212920|PMID:23375450 8876147 Magee2 MAGE family member E2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8876147 Magee2 MAGE family member E2 gene DOID:12849 autistic disorder ISO RGD:1346034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8876147 Magee2 MAGE family member E2 gene DOID:630 genetic disease ISO RGD:1346034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876158 Zscan26 zinc finger and SCAN domain containing 26 gene DOID:11372 megacolon ISO RGD:1345585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8876158 Zscan26 zinc finger and SCAN domain containing 26 gene DOID:630 genetic disease ISO RGD:1345585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:0050741 alcohol dependence ISO RGD:2683 D RGD:9068941 20200609 RGD protein:increased activity:plasma,liver,intestine: PMID:6113606|REF_RGD_ID:14701046 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:0080546 non-alcoholic fatty liver ISO RGD:735681 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23730648|REF_RGD_ID:14747013 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:0111257 gamma-glutamyl transpeptidase deficiency ISO RGD:735681 D RGD:7240710 20190315 OMIM 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:0111257 gamma-glutamyl transpeptidase deficiency ISO RGD:735681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: gamma-Glutamyltransferase deficiency PMID:25741868 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:11714 gestational diabetes ISO RGD:735681 D RGD:9068941 20200609 RGD protein:increased activity:blood PMID:18937705|REF_RGD_ID:2315598 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:13608 biliary atresia disease_progression ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:29056230|REF_RGD_ID:14701039 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:1574 alcohol use disorder ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12747453 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:1826 epilepsy ISO RGD:735681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:1909 melanoma disease_progression ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:6120756|REF_RGD_ID:14747014 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:305 carcinoma ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:409 liver disease ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:5022 aflatoxins-related hepatocellular carcinoma ISO RGD:2683 D RGD:9068941 20220707 RGD associated with estrogen excess;protein:increased activity;liver (rat) PMID:6133380|REF_RGD_ID:152998935 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:5082 liver cirrhosis ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic; PMID:15997630|REF_RGD_ID:14747030 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:27793641|REF_RGD_ID:14701041 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:5082 liver cirrhosis severity ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic; PMID:25254524|REF_RGD_ID:14747031 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:735681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:5844 myocardial infarction ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19419996 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:630 genetic disease ISO RGD:735681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735681 D RGD:9068941 20200609 RGD RNA,protein:increased expression, activity:liver: PMID:10572675|REF_RGD_ID:14701048 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:11940314|REF_RGD_ID:14701040 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735681 D RGD:9068941 20200609 RGD HBV associated PMID:27793641|REF_RGD_ID:14701041 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:824 periodontitis ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12747453 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:8947 diabetic retinopathy ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum PMID:11311965|REF_RGD_ID:2315614 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9000528 Coronary Disease ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:serum PMID:16772340|REF_RGD_ID:2315604 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9001542 Albuminuria ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:increased activity:serum PMID:15890893|REF_RGD_ID:2315606 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9001594 Paucibacillary Leprosy ISO RGD:735681 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:1680936|REF_RGD_ID:14747017 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:10934805|REF_RGD_ID:14747019 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2683 D RGD:9068941 20200609 RGD protein:increased activity:serum PMID:18291430|REF_RGD_ID:2315577 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9005723 Multibacillary Leprosy ISO RGD:735681 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:1680936|REF_RGD_ID:14747017 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9005725 Iron Overload ISO RGD:2683 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:9559866|REF_RGD_ID:14747018 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:24847614|REF_RGD_ID:14747015 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:17095717|REF_RGD_ID:1601300 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2683 D RGD:9068941 20200609 RGD PMID:10934156|REF_RGD_ID:14701049 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9351 diabetes mellitus ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; protein:increased activity:plasma PMID:17888134|REF_RGD_ID:2315601 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:19936701|REF_RGD_ID:2315593 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9452 steatotic liver disease disease_progression ISO RGD:735681 D RGD:9068941 20200609 RGD PMID:19670414|REF_RGD_ID:14747016 8876176 Ggt1 gamma-glutamyltransferase 1 gene DOID:9743 diabetic neuropathy ISO RGD:735681 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum PMID:11311965|REF_RGD_ID:2315614 8876213 Inpp5j inositol polyphosphate-5-phosphatase J gene DOID:630 genetic disease ISO RGD:1349321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876231 Tmem210 transmembrane protein 210 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8876231 Tmem210 transmembrane protein 210 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:2292188 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8876231 Tmem210 transmembrane protein 210 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8876231 Tmem210 transmembrane protein 210 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:2292188 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8876231 Tmem210 transmembrane protein 210 gene DOID:0081097 Rafiq syndrome ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8876231 Tmem210 transmembrane protein 210 gene DOID:0110980 Joubert syndrome 1 ISO RGD:2292188 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8876231 Tmem210 transmembrane protein 210 gene DOID:1826 epilepsy ISO RGD:2292188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8876231 Tmem210 transmembrane protein 210 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:2292188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8876248 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:734312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8876248 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:3652 Leigh disease ISO RGD:734312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25393721|PMID:25741868|PMID:28492532|PMID:32677908|PMID:33139125|PMID:33163364 8876248 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:630 genetic disease ISO RGD:734312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25393721|PMID:25741868|PMID:26000322|PMID:26081110|PMID:26099313|PMID:26467025|PMID:27090768|PMID:28039521|PMID:28492532|PMID:30008475|PMID:31216405|PMID:31219693|PMID:32677093|PMID:32677908|PMID:32858208 8876248 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:734312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 8876248 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:9003746 MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY ISO RGD:734312 D RGD:7240710 20180130 OMIM 8876248 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:9003746 MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY ISO RGD:734312 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency PMID:17576681|PMID:25125611|PMID:25393721|PMID:25741868|PMID:26000322|PMID:26081110|PMID:26099313|PMID:26251176|PMID:26467025|PMID:26938784|PMID:27090768|PMID:27905109|PMID:28039521|PMID:28202214|PMID:28409271|PMID:28429146|PMID:28492532|PMID:29575569|PMID:30008475|PMID:30029642|PMID:30634555|PMID:31216405|PMID:31219693|PMID:32013919|PMID:32313153|PMID:32642440|PMID:32677093|PMID:32677908|PMID:32858208|PMID:33112498|PMID:33139125|PMID:33163364|PMID:35856138|PMID:36200804|PMID:37377599|PMID:9536098 8876248 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8876248 Echs1 enoyl-CoA hydratase, short chain 1 gene DOID:9970 obesity ISO RGD:734312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8876263 Copz1 COPI coat complex subunit zeta 1 gene DOID:630 genetic disease ISO RGD:1314607 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876263 Copz1 COPI coat complex subunit zeta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8876276 Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:11612 polycystic ovary syndrome ISO RGD:1315487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8876276 Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:2717 Bloom syndrome ISO RGD:1315487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8876276 Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:3393 coronary artery disease ISO RGD:1315487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 8876276 Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:630 genetic disease ISO RGD:1315487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876276 Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:9000528 Coronary Disease ISO RGD:1315487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 8876276 Adamts7 ADAM metallopeptidase with thrombospondin type 1 motif 7 gene DOID:9256 colorectal cancer ISO RGD:1315487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0111042 glycogen storage disease IXA ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0111862 congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:9068941 20200619 CTD CTD Direct Evidence: marker/mechanism 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0111863 X-linked congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:7240710 20200619 OMIM 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0111863 X-linked congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vas deferens, congenital bilateral aplasia of, X-linked PMID:25741868|PMID:27476656 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:25741868|PMID:27476656 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:12849 autistic disorder ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:735317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:630 genetic disease ISO RGD:735317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:8398 osteoarthritis ISO RGD:735317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 8876304 Adgrg2 adhesion G protein-coupled receptor G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8876337 Krt77 keratin 77 gene DOID:630 genetic disease ISO RGD:1352886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876359 Ggact gamma-glutamylamine cyclotransferase gene DOID:0110878 holoprosencephaly 5 ISO RGD:2299985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 8876359 Ggact gamma-glutamylamine cyclotransferase gene DOID:14701 propionic acidemia ISO RGD:2299985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:19157943|PMID:22033733|PMID:28492532 8876359 Ggact gamma-glutamylamine cyclotransferase gene DOID:4621 holoprosencephaly ISO RGD:2299985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 8876359 Ggact gamma-glutamylamine cyclotransferase gene DOID:630 genetic disease ISO RGD:2299985 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876359 Ggact gamma-glutamylamine cyclotransferase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:2299985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8876388 Coq8b coenzyme Q8B gene DOID:0080391 nephrotic syndrome type 9 ISO RGD:1322771 D RGD:7240710 20180130 OMIM 8876388 Coq8b coenzyme Q8B gene DOID:0080391 nephrotic syndrome type 9 ISO RGD:1322771 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 9 PMID:17576681|PMID:24270420|PMID:25741868|PMID:28204945|PMID:28337616|PMID:28405841|PMID:28454995|PMID:28492532|PMID:29194833|PMID:29382012|PMID:30076350|PMID:31130284|PMID:31937884|PMID:32543055|PMID:32604935|PMID:32859164|PMID:32957916|PMID:33084234|PMID:33413146|PMID:33532864|PMID:34172776|PMID:9536098 8876388 Coq8b coenzyme Q8B gene DOID:1074 kidney failure ISO RGD:1322771 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Renal failure PMID:25741868 8876388 Coq8b coenzyme Q8B gene DOID:1184 nephrotic syndrome ISO RGD:1322771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:33532864 8876388 Coq8b coenzyme Q8B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8876388 Coq8b coenzyme Q8B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8876388 Coq8b coenzyme Q8B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8876388 Coq8b coenzyme Q8B gene DOID:2340 craniosynostosis ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8876388 Coq8b coenzyme Q8B gene DOID:557 kidney disease ISO RGD:1322771 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 8876388 Coq8b coenzyme Q8B gene DOID:630 genetic disease ISO RGD:1322771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33084234 8876388 Coq8b coenzyme Q8B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8876388 Coq8b coenzyme Q8B gene DOID:9269 maple syrup urine disease ISO RGD:1322771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8876425 Tti2 TELO2 interacting protein 2 gene DOID:0081204 autosomal recessive intellectual developmental disorder 39 ISO RGD:1604785 D RGD:7240710 20180130 OMIM 8876425 Tti2 TELO2 interacting protein 2 gene DOID:0081204 autosomal recessive intellectual developmental disorder 39 ISO RGD:1604785 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome PMID:21937992|PMID:23956177|PMID:25741868|PMID:31290144|PMID:31737043|PMID:32061250 8876425 Tti2 TELO2 interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1604785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8876425 Tti2 TELO2 interacting protein 2 gene DOID:10907 microcephaly ISO RGD:1604785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8876425 Tti2 TELO2 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1604785 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8876471 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1351918 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8876471 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:1749 squamous cell carcinoma ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8876471 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:630 genetic disease ISO RGD:1351918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876471 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8876471 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:9000918 Disease Progression ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8876471 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:9007364 Mouth Neoplasms ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8876471 Mrpl13 mitochondrial ribosomal protein L13 gene DOID:9008939 Breast Neoplasms ISO RGD:1351918 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8876482 Maff MAF bZIP transcription factor F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1319919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8876482 Maff MAF bZIP transcription factor F gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1319919 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8876482 Maff MAF bZIP transcription factor F gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1319919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8876482 Maff MAF bZIP transcription factor F gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1319919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8876482 Maff MAF bZIP transcription factor F gene DOID:630 genetic disease ISO RGD:1319919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876482 Maff MAF bZIP transcription factor F gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1319919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8876498 Cldn14 claudin 14 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1319353 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11163249|PMID:15880785|PMID:22246673|PMID:25741868|PMID:30303587 8876498 Cldn14 claudin 14 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1319353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8876498 Cldn14 claudin 14 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1319353 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8876498 Cldn14 claudin 14 gene DOID:0110487 autosomal recessive nonsyndromic deafness 29 ISO RGD:1319353 D RGD:7240710 20180130 OMIM 8876498 Cldn14 claudin 14 gene DOID:0110487 autosomal recessive nonsyndromic deafness 29 ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 29 PMID:11163249|PMID:15880785|PMID:22246673|PMID:23235333|PMID:23590985|PMID:23991001|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27838790|PMID:28492532|PMID:30303587|PMID:30311386|PMID:33105617 8876498 Cldn14 claudin 14 gene DOID:10003 sensorineural hearing loss ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8876498 Cldn14 claudin 14 gene DOID:10983 Alport syndrome ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:30311386 8876498 Cldn14 claudin 14 gene DOID:630 genetic disease ISO RGD:1319353 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8876498 Cldn14 claudin 14 gene DOID:859 holocarboxylase synthetase deficiency ISO RGD:1319353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 8876498 Cldn14 claudin 14 gene DOID:9002315 Kidney Calculi ISO RGD:1319353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19561606 8876498 Cldn14 claudin 14 gene DOID:9002802 Acidoses ISO RGD:1309165 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenum PMID:17383680|REF_RGD_ID:1600867 8876498 Cldn14 claudin 14 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1319353 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:23991001|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30578106 8876498 Cldn14 claudin 14 gene DOID:9004538 Hearing Loss ISO RGD:1319353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11163249|PMID:15880785|PMID:22246673|PMID:23235333|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386 8876498 Cldn14 claudin 14 gene DOID:9008681 Deafness ISO RGD:1319353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11163249 8876498 Cldn14 claudin 14 gene DOID:9008681 Deafness susceptibility ISO RGD:1319353 D RGD:9068941 20200609 RGD DNA:deletion, missense mutation: :398delT, p.V85D PMID:11163249|REF_RGD_ID:1600866 8876507 Neurod4 neuronal differentiation 4 gene DOID:630 genetic disease ISO RGD:1321332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876513 Them4 thioesterase superfamily member 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8876513 Them4 thioesterase superfamily member 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8876513 Them4 thioesterase superfamily member 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8876513 Them4 thioesterase superfamily member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8876513 Them4 thioesterase superfamily member 4 gene DOID:5812 MHC class II deficiency ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8876513 Them4 thioesterase superfamily member 4 gene DOID:630 genetic disease ISO RGD:1603281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876513 Them4 thioesterase superfamily member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1603281 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23392203 8876513 Them4 thioesterase superfamily member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8876523 Ecm1 extracellular matrix protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8876523 Ecm1 extracellular matrix protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8876523 Ecm1 extracellular matrix protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8876523 Ecm1 extracellular matrix protein 1 gene DOID:14498 lipoid proteinosis ISO RGD:1605731 D RGD:7240710 20180130 OMIM 8876523 Ecm1 extracellular matrix protein 1 gene DOID:14498 lipoid proteinosis ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lipid proteinosis PMID:11929856|PMID:12472532|PMID:12603844|PMID:15327549|PMID:16172042|PMID:17063986|PMID:17199583|PMID:17927570|PMID:24413997|PMID:24708644|PMID:25529926|PMID:25741868|PMID:26803878|PMID:28492532|PMID:28720532 8876523 Ecm1 extracellular matrix protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8876523 Ecm1 extracellular matrix protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8876523 Ecm1 extracellular matrix protein 1 gene DOID:630 genetic disease ISO RGD:1605731 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8876523 Ecm1 extracellular matrix protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8876523 Ecm1 extracellular matrix protein 1 gene DOID:8577 ulcerative colitis ISO RGD:1605731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406 8876523 Ecm1 extracellular matrix protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1605731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31472228 8876523 Ecm1 extracellular matrix protein 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:1605731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8876523 Ecm1 extracellular matrix protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8876558 Cabp2 calcium binding protein 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348224 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:17576681|PMID:22981119|PMID:25741868|PMID:28492532|PMID:30303587|PMID:9536098 8876558 Cabp2 calcium binding protein 2 gene DOID:0110537 autosomal recessive nonsyndromic deafness 93 ISO RGD:1348224 D RGD:7240710 20180130 OMIM 8876558 Cabp2 calcium binding protein 2 gene DOID:0110537 autosomal recessive nonsyndromic deafness 93 ISO RGD:1348224 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 93 PMID:17576681|PMID:22981119|PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:30303587|PMID:9536098 8876558 Cabp2 calcium binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1348224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8876558 Cabp2 calcium binding protein 2 gene DOID:630 genetic disease ISO RGD:1348224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8876558 Cabp2 calcium binding protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1348224 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8876558 Cabp2 calcium binding protein 2 gene DOID:9004538 Hearing Loss ISO RGD:1348224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8876558 Cabp2 calcium binding protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1348224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8876574 LOC102014028 NXPE family member 1 gene DOID:1059 intellectual disability ISO RGD:1352335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability 8876574 LOC102014028 NXPE family member 1 gene DOID:630 genetic disease ISO RGD:1352335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876574 LOC102014028 NXPE family member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8876581 Cldn25 claudin 25 gene DOID:1059 intellectual disability ISO RGD:3436494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8876581 Cldn25 claudin 25 gene DOID:630 genetic disease ISO RGD:3436494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876581 Cldn25 claudin 25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:3436494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8876586 Arid3a AT-rich interaction domain 3A gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8876586 Arid3a AT-rich interaction domain 3A gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1313245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 8876586 Arid3a AT-rich interaction domain 3A gene DOID:5339 cyclic hematopoiesis ISO RGD:1313245 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8876586 Arid3a AT-rich interaction domain 3A gene DOID:630 genetic disease ISO RGD:1313245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876586 Arid3a AT-rich interaction domain 3A gene DOID:684 hepatocellular carcinoma ISO RGD:1313245 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35179300 8876614 LOC102015579 chromosome unknown open reading frame, human C1orf35 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1312112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 8876614 LOC102015579 chromosome unknown open reading frame, human C1orf35 gene DOID:1540 parathyroid carcinoma ISO RGD:1312112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8876614 LOC102015579 chromosome unknown open reading frame, human C1orf35 gene DOID:630 genetic disease ISO RGD:1312112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876614 LOC102015579 chromosome unknown open reading frame, human C1orf35 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8876626 Sts steroid sulfatase gene DOID:0060041 autism spectrum disorder ISO RGD:735809 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8876626 Sts steroid sulfatase gene DOID:0080600 COVID-19 ISO RGD:735809 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8876626 Sts steroid sulfatase gene DOID:10763 hypertension ISO RGD:3783 D RGD:9068941 20200609 RGD protein:increased expression:multiple organs PMID:8539776|REF_RGD_ID:1601393 8876626 Sts steroid sulfatase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413370 8876626 Sts steroid sulfatase gene DOID:11383 cryptorchidism ISO RGD:3783 D RGD:9068941 20200609 RGD protein:increased expression:scrotum, testis PMID:2576297|REF_RGD_ID:1601402 8876626 Sts steroid sulfatase gene DOID:12351 alcoholic hepatitis ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26220752 8876626 Sts steroid sulfatase gene DOID:12849 autistic disorder ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8876626 Sts steroid sulfatase gene DOID:13938 amenorrhea ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8876626 Sts steroid sulfatase gene DOID:1700 X-linked ichthyosis ISO RGD:735809 D RGD:7240710 20180130 OMIM 8876626 Sts steroid sulfatase gene DOID:1700 X-linked ichthyosis ISO RGD:735809 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis PMID:1539590|PMID:18413370|PMID:25741868|PMID:2668275|PMID:28492532|PMID:3007328|PMID:3032454|PMID:31690835|PMID:35822528|PMID:7208152|PMID:9252398 8876626 Sts steroid sulfatase gene DOID:1969 cerebral palsy ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8876626 Sts steroid sulfatase gene DOID:5419 schizophrenia ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8876626 Sts steroid sulfatase gene DOID:543 dystonia ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8876626 Sts steroid sulfatase gene DOID:630 genetic disease ISO RGD:735809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8876626 Sts steroid sulfatase gene DOID:7148 rheumatoid arthritis ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8876626 Sts steroid sulfatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8876626 Sts steroid sulfatase gene DOID:9004657 Weight Gain ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 8876626 Sts steroid sulfatase gene DOID:9005372 Inflammation ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 8876626 Sts steroid sulfatase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 8876626 Sts steroid sulfatase gene DOID:9007692 Insulin Resistance ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 8876626 Sts steroid sulfatase gene DOID:9452 steatotic liver disease ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 8876626 Sts steroid sulfatase gene DOID:9970 obesity ISO RGD:735809 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24497646 8876679 Ankrd63 ankyrin repeat domain 63 gene DOID:2717 Bloom syndrome ISO RGD:5132170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8876679 Ankrd63 ankyrin repeat domain 63 gene DOID:630 genetic disease ISO RGD:5132170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876679 Ankrd63 ankyrin repeat domain 63 gene DOID:9256 colorectal cancer ISO RGD:5132170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8876690 Zfand5 zinc finger AN1-type containing 5 gene DOID:630 genetic disease ISO RGD:1349305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876690 Zfand5 zinc finger AN1-type containing 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8876699 Spib Spi-B transcription factor gene DOID:12236 primary biliary cholangitis ISO RGD:1347644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 8876699 Spib Spi-B transcription factor gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1347644 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8876699 Spib Spi-B transcription factor gene DOID:630 genetic disease ISO RGD:1347644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0050464 Farber lipogranulomatosis ISO RGD:734135 D RGD:7240710 20180130 OMIM 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0050464 Farber lipogranulomatosis ISO RGD:734135 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency PMID:10610716|PMID:11241842|PMID:12638942|PMID:16199547|PMID:16951918|PMID:17576681|PMID:20560208|PMID:21893389|PMID:22565078|PMID:23681708|PMID:23707712|PMID:24033266|PMID:24164096|PMID:24355074|PMID:24614645|PMID:25741868|PMID:25847462|PMID:26075876|PMID:26467025|PMID:26526000|PMID:26945816|PMID:27411168|PMID:28251733|PMID:28492532|PMID:28733637|PMID:29140481|PMID:29358611|PMID:29379059|PMID:29692406|PMID:3037247|PMID:30525581|PMID:30815900|PMID:31680123|PMID:32449975|PMID:32627310|PMID:32706452|PMID:32875576|PMID:34240417|PMID:8955159|PMID:9128814|PMID:9536098 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0060224 atrial fibrillation ISO RGD:734135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:734135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:734135 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:29140481|PMID:31680123 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy ISO RGD:734135 D RGD:7240710 20180130 OMIM 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY PMID:16199547|PMID:22703880|PMID:24033266|PMID:24164096|PMID:24355074|PMID:25326635|PMID:25578555|PMID:25741868|PMID:25847462|PMID:26467025|PMID:26526000|PMID:27026573|PMID:27723502|PMID:28251733|PMID:28492532|PMID:28733637|PMID:29169047|PMID:29358611|PMID:30291339|PMID:32449975|PMID:34240417 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:10316 pneumoconiosis ISO RGD:734135 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:1927 sphingolipidosis susceptibility ISO RGD:734135 D RGD:9068941 20200609 RGD PMID:11241842|REF_RGD_ID:734977 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:734135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:26075876|PMID:26467025|PMID:28492532|PMID:29140481|PMID:29358611|PMID:29692406 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:630 genetic disease ISO RGD:734135 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22565078|PMID:24164096|PMID:24355074|PMID:25741868|PMID:25847462|PMID:26075876|PMID:26467025|PMID:26526000|PMID:28492532|PMID:29140481|PMID:29358611|PMID:29692406|PMID:3037247|PMID:30525581|PMID:9536098 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:9000058 Keloid ISO RGD:734135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keloid formation PMID:28492532|PMID:28905881 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:734135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8876743 Asah1 N-acylsphingosine amidohydrolase 1 gene DOID:9455 lipid storage disease ISO RGD:734135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 8876781 Insyn1 inhibitory synaptic factor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:2298735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8876781 Insyn1 inhibitory synaptic factor 1 gene DOID:2717 Bloom syndrome ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8876781 Insyn1 inhibitory synaptic factor 1 gene DOID:3320 Tay-Sachs disease ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8876781 Insyn1 inhibitory synaptic factor 1 gene DOID:5419 schizophrenia ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8876781 Insyn1 inhibitory synaptic factor 1 gene DOID:9256 colorectal cancer ISO RGD:2298735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8876808 Zhx2 zinc fingers and homeoboxes 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1342946 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8876808 Zhx2 zinc fingers and homeoboxes 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1342946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8876808 Zhx2 zinc fingers and homeoboxes 2 gene DOID:630 genetic disease ISO RGD:1342946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876829 Mettl13 methyltransferase 13, eEF1A N-terminus and K55 gene DOID:1540 parathyroid carcinoma ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8876829 Mettl13 methyltransferase 13, eEF1A N-terminus and K55 gene DOID:630 genetic disease ISO RGD:1604624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876829 Mettl13 methyltransferase 13, eEF1A N-terminus and K55 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8876829 Mettl13 methyltransferase 13, eEF1A N-terminus and K55 gene DOID:9003159 Nonsyndromic Deafness, Modifier 1 ISO RGD:1604624 D RGD:7240710 20190315 OMIM 8876829 Mettl13 methyltransferase 13, eEF1A N-terminus and K55 gene DOID:9003159 Nonsyndromic Deafness, Modifier 1 ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DFNM1 PMID:29408807 8876829 Mettl13 methyltransferase 13, eEF1A N-terminus and K55 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8876829 Mettl13 methyltransferase 13, eEF1A N-terminus and K55 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8876848 Oxtr oxytocin receptor gene DOID:0050700 cardiomyopathy ISO RGD:736017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15099591|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:9536092 8876848 Oxtr oxytocin receptor gene DOID:0060041 autism spectrum disorder ISO RGD:736017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20832055 8876848 Oxtr oxytocin receptor gene DOID:0060255 rippling muscle disease 2 ISO RGD:736017 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive PMID:09536092|PMID:09537420|PMID:10227634|PMID:10464299|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11884389|PMID:12666119|PMID:14600260|PMID:14663034|PMID:14672715|PMID:15580566|PMID:15668980|PMID:16247063|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:19380584|PMID:19697367|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:2705900|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:32419263|PMID:32528171|PMID:35026164|PMID:35027292|PMID:9536092|PMID:9537420 8876848 Oxtr oxytocin receptor gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:14672715|PMID:15580566 8876848 Oxtr oxytocin receptor gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736017 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:29961767|PMID:30055862|PMID:9536092 8876848 Oxtr oxytocin receptor gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736017 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:29961767|PMID:30055862|PMID:35026164|PMID:9536092 8876848 Oxtr oxytocin receptor gene DOID:0110644 long QT syndrome 1 ISO RGD:736017 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536092 8876848 Oxtr oxytocin receptor gene DOID:0110650 long QT syndrome 9 ISO RGD:736017 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28837624|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:31043699|PMID:35026164|PMID:9536092 8876848 Oxtr oxytocin receptor gene DOID:0111004 Joubert syndrome 9 ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 8876848 Oxtr oxytocin receptor gene DOID:0111191 distal myopathy Tateyama type ISO RGD:736017 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Distal myopathy, Tateyama type PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:29961767|PMID:30055862|PMID:35026164|PMID:9536092 8876848 Oxtr oxytocin receptor gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:736017 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:09536092|PMID:10227634|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11884389|PMID:12666119|PMID:14663034|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17994539|PMID:18509671|PMID:18583131|PMID:19380584|PMID:20229577|PMID:20472890|PMID:21660982|PMID:22976939|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:29961767|PMID:30055862|PMID:35026164|PMID:9536092 8876848 Oxtr oxytocin receptor gene DOID:10763 hypertension ISO RGD:3239 D RGD:9068941 20200609 RGD mRNA:decreased expression:brainstem PMID:16157794|REF_RGD_ID:2304174 8876848 Oxtr oxytocin receptor gene DOID:10808 gastric ulcer ISO RGD:3239 D RGD:9068941 20200609 RGD PMID:11764003|REF_RGD_ID:2304192 8876848 Oxtr oxytocin receptor gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17556197|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:29961767|PMID:30055862|PMID:9536092 8876848 Oxtr oxytocin receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8876848 Oxtr oxytocin receptor gene DOID:12849 autistic disorder ISO RGD:736017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15288368|PMID:15992526|PMID:17383819|PMID:17893705|PMID:18207134|PMID:21082655 8876848 Oxtr oxytocin receptor gene DOID:1561 cognitive disorder ISO RGD:736017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20347913 8876848 Oxtr oxytocin receptor gene DOID:2843 long QT syndrome ISO RGD:736017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:09536092|PMID:10227634|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11884389|PMID:12666119|PMID:14647208|PMID:14672715|PMID:15099591|PMID:15580566|PMID:15668980|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17405141|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:19238754|PMID:19380584|PMID:19697367|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21182936|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28232187|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28810874|PMID:28837624|PMID:28877744|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:29970176|PMID:30055862|PMID:30153853|PMID:30174172|PMID:30564623|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:32004987|PMID:32419263|PMID:32528171|PMID:9536092|PMID:9536098|PMID:9537420 8876848 Oxtr oxytocin receptor gene DOID:2843 long QT syndrome ISO RGD:736017 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:09536092|PMID:10227634|PMID:11001938|PMID:11251997|PMID:11431690|PMID:1146501|PMID:11532985|PMID:11884389|PMID:12666119|PMID:14647208|PMID:14672715|PMID:15099591|PMID:15580566|PMID:15668980|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17405141|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:19238754|PMID:19380584|PMID:19697367|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21182936|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25214167|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28232187|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28810874|PMID:28837624|PMID:28877744|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:29970176|PMID:30055862|PMID:30153853|PMID:30174172|PMID:30564623|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:32004987|PMID:32419263|PMID:32528171|PMID:35026164|PMID:35027292|PMID:9536092|PMID:9536098|PMID:9537420 8876848 Oxtr oxytocin receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:736017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 8876848 Oxtr oxytocin receptor gene DOID:5419 schizophrenia ISO RGD:736017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20196918 8876848 Oxtr oxytocin receptor gene DOID:630 genetic disease ISO RGD:736017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876848 Oxtr oxytocin receptor gene DOID:9002669 Hypoxia ISO RGD:3239 D RGD:9068941 20200609 RGD PMID:18655887|REF_RGD_ID:2304092 8876848 Oxtr oxytocin receptor gene DOID:9003129 Chromosome 3, Monosomy 3p25 ISO RGD:736017 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 8876848 Oxtr oxytocin receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8876848 Oxtr oxytocin receptor gene DOID:9004730 Romano-Ward Syndrome ISO RGD:736017 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:17556197|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8876848 Oxtr oxytocin receptor gene DOID:9007 sudden infant death syndrome ISO RGD:736017 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:12666119|PMID:15580566|PMID:25741868|PMID:28492532|PMID:35027292 8876848 Oxtr oxytocin receptor gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:736017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8876856 Sft2d1 SFT2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1343304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876868 C1qtnf12 C1q and TNF related 12 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8876868 C1qtnf12 C1q and TNF related 12 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603827 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8876868 C1qtnf12 C1q and TNF related 12 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8876868 C1qtnf12 C1q and TNF related 12 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8876868 C1qtnf12 C1q and TNF related 12 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8876868 C1qtnf12 C1q and TNF related 12 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8876868 C1qtnf12 C1q and TNF related 12 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8876868 C1qtnf12 C1q and TNF related 12 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8876868 C1qtnf12 C1q and TNF related 12 gene DOID:630 genetic disease ISO RGD:1603827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876868 C1qtnf12 C1q and TNF related 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8876868 C1qtnf12 C1q and TNF related 12 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8876868 C1qtnf12 C1q and TNF related 12 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8876881 Tmpo thymopoietin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 8876881 Tmpo thymopoietin gene DOID:0050700 cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:28492532 8876881 Tmpo thymopoietin gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:735785 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:16247757|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28798025|PMID:30327538|PMID:9536098 8876881 Tmpo thymopoietin gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:735785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:16247757|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28492532|PMID:28798025|PMID:30327538|PMID:9536098 8876881 Tmpo thymopoietin gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:735785 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:16247757|PMID:17576681|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28492532|PMID:28798025|PMID:29247119|PMID:30327538|PMID:30975432|PMID:31983221|PMID:9536098 8876881 Tmpo thymopoietin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 8876881 Tmpo thymopoietin gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:16247757|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8876881 Tmpo thymopoietin gene DOID:0110452 dilated cardiomyopathy 1T ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1T PMID:16247757|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 8876881 Tmpo thymopoietin gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8876881 Tmpo thymopoietin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735785 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 8876881 Tmpo thymopoietin gene DOID:12930 dilated cardiomyopathy ISO RGD:735785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16247757|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:28074886|PMID:28492532|PMID:30327538 8876881 Tmpo thymopoietin gene DOID:2843 long QT syndrome ISO RGD:735785 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:28492532 8876881 Tmpo thymopoietin gene DOID:630 genetic disease ISO RGD:735785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16247757|PMID:23861362|PMID:24033266|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27662471|PMID:28074886|PMID:28492532|PMID:28798025|PMID:30327538 8876881 Tmpo thymopoietin gene DOID:7148 rheumatoid arthritis ISO RGD:735785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 8876881 Tmpo thymopoietin gene DOID:9004039 Marfan Syndrome Type 2 ISO RGD:735785 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Marfan like connective tissue disorder PMID:25741868|PMID:28492532 8876881 Tmpo thymopoietin gene DOID:9006193 Loeys-Dietz Syndrome, Type 1b ISO RGD:735785 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B PMID:25741868|PMID:28492532 8876881 Tmpo thymopoietin gene DOID:9007102 Myocardial Ischemia ISO RGD:735785 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8876895 Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:1316946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 8876895 Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:630 genetic disease ISO RGD:1316946 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876895 Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:9002310 Split-Hand/Foot Malformation with Long Bone Deficiency 3 ISO RGD:1316946 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome PMID:25741868 8876895 Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 gene DOID:9002821 Bifid Femur with Monodactylous Ectrodactyly ISO RGD:1316946 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Gollop-Wolfgang complex PMID:25741868 8876902 Gins2 GINS complex subunit 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1602113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8876902 Gins2 GINS complex subunit 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1602113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8876902 Gins2 GINS complex subunit 2 gene DOID:630 genetic disease ISO RGD:1602113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876902 Gins2 GINS complex subunit 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1602113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8876913 Slc35b4 solute carrier family 35 member B4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8876913 Slc35b4 solute carrier family 35 member B4 gene DOID:630 genetic disease ISO RGD:1319077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876929 Irak4 interleukin 1 receptor associated kinase 4 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1313252 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia PMID:25741868 8876929 Irak4 interleukin 1 receptor associated kinase 4 gene DOID:2316 brain ischemia ISO RGD:1305303 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:21925238|REF_RGD_ID:7495802 8876929 Irak4 interleukin 1 receptor associated kinase 4 gene DOID:630 genetic disease ISO RGD:1313252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8876929 Irak4 interleukin 1 receptor associated kinase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16537705 8876929 Irak4 interleukin 1 receptor associated kinase 4 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1313252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21925238 8876929 Irak4 interleukin 1 receptor associated kinase 4 gene DOID:9003909 Immunodeficiency 67 ISO RGD:1313252 D RGD:7240710 20180130 OMIM 8876929 Irak4 interleukin 1 receptor associated kinase 4 gene DOID:9003909 Immunodeficiency 67 ISO RGD:1313252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 67 | ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated PMID:12637671|PMID:12925671|PMID:15520784|PMID:16199547|PMID:16647421|PMID:16950813|PMID:17114497|PMID:17312103|PMID:17544092|PMID:17576681|PMID:17878374|PMID:17893200|PMID:19663824|PMID:19814626|PMID:20621347|PMID:21057262|PMID:23538514|PMID:24033266|PMID:24316379|PMID:25344726|PMID:25741868|PMID:26472314|PMID:26698383|PMID:26825884|PMID:28492532|PMID:30073964|PMID:33083971|PMID:9536098|PMID:9789052 8876929 Irak4 interleukin 1 receptor associated kinase 4 gene DOID:9004384 Bacterial Infections and Mycoses susceptibility ISO RGD:1313252 D RGD:9068941 20200609 RGD deficiency of IRAK4/extracellular pyogenic bacterial and fungal infections, OMIM:607676 DNA:deletion:CDS:821delT PMID:12637671|REF_RGD_ID:1600199 8876929 Irak4 interleukin 1 receptor associated kinase 4 gene DOID:9004484 Sepsis ISO RGD:1305303 D RGD:9068941 20200609 RGD PMID:23073793|REF_RGD_ID:7495805 8876929 Irak4 interleukin 1 receptor associated kinase 4 gene DOID:9006205 Animal Disease Models ISO RGD:1313252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28003376 8876929 Irak4 interleukin 1 receptor associated kinase 4 gene DOID:9007480 Hyperoxia ISO RGD:1313253 D RGD:9068941 20200609 RGD PMID:15622543|REF_RGD_ID:7495804 8876929 Irak4 interleukin 1 receptor associated kinase 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28003376 8876955 Phf1 PHD finger protein 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1344150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8876955 Phf1 PHD finger protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1344150 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8876955 Phf1 PHD finger protein 1 gene DOID:630 genetic disease ISO RGD:1344150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8876979 Pex11g peroxisomal biogenesis factor 11 gamma gene DOID:0080490 mucolipidosis type IV ISO RGD:1316043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8876979 Pex11g peroxisomal biogenesis factor 11 gamma gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1316043 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 PMID:28492532 8876979 Pex11g peroxisomal biogenesis factor 11 gamma gene DOID:630 genetic disease ISO RGD:1316043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877003 Smad6 SMAD family member 6 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312880 D RGD:9068941 20220624 RGD mRNA:decreased expression:blood plasma (human) PMID:31874165|REF_RGD_ID:152995482 8877003 Smad6 SMAD family member 6 gene DOID:0060912 craniosynostosis 7 ISO RGD:1312880 D RGD:7240710 20240320 OMIM 8877003 Smad6 SMAD family member 6 gene DOID:0060912 craniosynostosis 7 ISO RGD:1312880 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: CRS7, DIGENIC | ClinVar Annotator: match by term: Craniosynostosis 7 PMID:17576681|PMID:22275001|PMID:25741868|PMID:27606499|PMID:28492532|PMID:28808027|PMID:32499606|PMID:9536098 8877003 Smad6 SMAD family member 6 gene DOID:0070237 Loeys-Dietz syndrome 3 ISO RGD:1312880 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 3 PMID:28492532|PMID:30796334 8877003 Smad6 SMAD family member 6 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bicuspid aortic valve PMID:25741868|PMID:28492532 8877003 Smad6 SMAD family member 6 gene DOID:0080333 aortic valve disease 1 ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:28492532|PMID:30796334 8877003 Smad6 SMAD family member 6 gene DOID:0080334 aortic valve disease 2 ISO RGD:1312880 D RGD:7240710 20240320 OMIM 8877003 Smad6 SMAD family member 6 gene DOID:0080334 aortic valve disease 2 ISO RGD:1312880 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:16199547|PMID:17576681|PMID:22275001|PMID:25741868|PMID:27606499|PMID:28492532|PMID:28659821|PMID:28808027|PMID:28991257|PMID:30056620|PMID:30796334|PMID:30848080|PMID:31138930|PMID:32005695|PMID:32499606|PMID:34953066|PMID:9536098 8877003 Smad6 SMAD family member 6 gene DOID:0111004 Joubert syndrome 9 ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 8877003 Smad6 SMAD family member 6 gene DOID:10952 nephritis ISO RGD:1305069 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11170839|REF_RGD_ID:2315074 8877003 Smad6 SMAD family member 6 gene DOID:1148 polydactyly ISO RGD:1312880 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:28492532|PMID:34953066 8877003 Smad6 SMAD family member 6 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532|PMID:32748548 8877003 Smad6 SMAD family member 6 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8877003 Smad6 SMAD family member 6 gene DOID:2340 craniosynostosis ISO RGD:1312880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8877003 Smad6 SMAD family member 6 gene DOID:2717 Bloom syndrome ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8877003 Smad6 SMAD family member 6 gene DOID:630 genetic disease ISO RGD:1312880 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11739411|PMID:25741868|PMID:27606499|PMID:28492532|PMID:28659821|PMID:30796334|PMID:30848080|PMID:34953066 8877003 Smad6 SMAD family member 6 gene DOID:6432 pulmonary hypertension ISO RGD:1305069 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17347486|REF_RGD_ID:1643222 8877003 Smad6 SMAD family member 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1305069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17437042|REF_RGD_ID:2289036 8877003 Smad6 SMAD family member 6 gene DOID:9002589 Bone Fractures ISO RGD:1305069 D RGD:9068941 20200609 RGD PMID:11920662|REF_RGD_ID:724455 8877003 Smad6 SMAD family member 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312880 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:11078792|REF_RGD_ID:2300008 8877003 Smad6 SMAD family member 6 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8877003 Smad6 SMAD family member 6 gene DOID:9256 colorectal cancer ISO RGD:1312880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8877003 Smad6 SMAD family member 6 gene DOID:9827 radioulnar synostosis ISO RGD:1312880 D RGD:7240710 20240320 OMIM 8877003 Smad6 SMAD family member 6 gene DOID:9827 radioulnar synostosis ISO RGD:1312880 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis | ClinVar Annotator: match by term: Radioulnar synostosis, nonsyndromic, susceptibility to PMID:25741868|PMID:27606499|PMID:28492532|PMID:28808027|PMID:28991257|PMID:30796334|PMID:30848080|PMID:31138930|PMID:32748548|PMID:34953066 8877016 Wnt4 Wnt family member 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:733867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8877016 Wnt4 Wnt family member 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:733867 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8877016 Wnt4 Wnt family member 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:733867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8877016 Wnt4 Wnt family member 4 gene DOID:0111526 Mullerian aplasia and hyperandrogenism ISO RGD:733867 D RGD:7240710 20180130 OMIM 8877016 Wnt4 Wnt family member 4 gene DOID:0111526 Mullerian aplasia and hyperandrogenism ISO RGD:733867 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism PMID:12016514|PMID:15317892|PMID:16959810|PMID:18182450|PMID:18987495|PMID:25741868|PMID:28492532 8877016 Wnt4 Wnt family member 4 gene DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome ISO RGD:733867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome PMID:25741868 8877016 Wnt4 Wnt family member 4 gene DOID:2871 endometrial carcinoma ISO RGD:733867 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:vs normal endometrium PMID:9099960|REF_RGD_ID:2291875 8877016 Wnt4 Wnt family member 4 gene DOID:3021 acute kidney failure ISO RGD:621348 D RGD:9068941 20200609 RGD PMID:12707392|REF_RGD_ID:727218 8877016 Wnt4 Wnt family member 4 gene DOID:4001 ovarian carcinoma ISO RGD:733867 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 8877016 Wnt4 Wnt family member 4 gene DOID:557 kidney disease ISO RGD:733867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11832423 8877016 Wnt4 Wnt family member 4 gene DOID:630 genetic disease ISO RGD:733867 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8877016 Wnt4 Wnt family member 4 gene DOID:9001611 Urogenital Abnormalities ISO RGD:733867 D RGD:9068941 20200609 RGD utero-vaginal atresia (MRKH), OMIM:277000 PMID:15317892|REF_RGD_ID:1599857 8877016 Wnt4 Wnt family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8877016 Wnt4 Wnt family member 4 gene DOID:9002739 Female Urogenital Diseases ISO RGD:733867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8877016 Wnt4 Wnt family member 4 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8877016 Wnt4 Wnt family member 4 gene DOID:9006947 Fibroadenoma ISO RGD:733867 D RGD:9068941 20200609 RGD breast fibroadenoma; mRNA:increased expression:tumor:increased vs normal and malignant breast tissue (p=0.001) PMID:8168088|REF_RGD_ID:2291878 8877016 Wnt4 Wnt family member 4 gene DOID:9007661 Dwarfism ISO RGD:733867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17505543 8877016 Wnt4 Wnt family member 4 gene DOID:9008540 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs ISO RGD:733867 D RGD:7240710 20180130 OMIM 8877016 Wnt4 Wnt family member 4 gene DOID:9008540 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs ISO RGD:733867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SERKAL syndrome PMID:18179883|PMID:25741868 8877031 Grip2 glutamate receptor interacting protein 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1354510 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8877031 Grip2 glutamate receptor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1354510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877060 Sptssa serine palmitoyltransferase small subunit A gene DOID:0070459 hereditary spastic paraplegia 90A ISO RGD:1350858 D RGD:7240710 20230726 OMIM 8877060 Sptssa serine palmitoyltransferase small subunit A gene DOID:0070459 hereditary spastic paraplegia 90A ISO RGD:1350858 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 90A, autosomal dominant PMID:36718090 8877060 Sptssa serine palmitoyltransferase small subunit A gene DOID:0070460 hereditary spastic paraplegia 90B ISO RGD:1350858 D RGD:7240710 20230726 OMIM 8877060 Sptssa serine palmitoyltransferase small subunit A gene DOID:0070460 hereditary spastic paraplegia 90B ISO RGD:1350858 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 90B, autosomal recessive 8877060 Sptssa serine palmitoyltransferase small subunit A gene DOID:630 genetic disease ISO RGD:1350858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877060 Sptssa serine palmitoyltransferase small subunit A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350858 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8877079 Cep290 centrosomal protein 290 gene DOID:0050545 visceral heterotaxy ISO RGD:1323204 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8877079 Cep290 centrosomal protein 290 gene DOID:0050572 cone-rod dystrophy ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532|PMID:29641573|PMID:30193310|PMID:30718709|PMID:32865313 8877079 Cep290 centrosomal protein 290 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:25741868|PMID:28492532 8877079 Cep290 centrosomal protein 290 gene DOID:0050777 Joubert syndrome ISO RGD:1604786 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29974258|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0050778 Meckel syndrome ISO RGD:1604786 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29974258|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0050952 spastic ataxia ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:16909394|PMID:17345604|PMID:17564974|PMID:20690115|PMID:21602930|PMID:23027964|PMID:25741868|PMID:28492532|PMID:29398085 8877079 Cep290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:16199547|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30718709|PMID:30902645|PMID:31630094|PMID:32865313|PMID:33546218 8877079 Cep290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1604786 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29974258|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 8877079 Cep290 centrosomal protein 290 gene DOID:0070118 Meckel syndrome 4 ISO RGD:1604786 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26667666|PMID:26673778|PMID:27353947|PMID:27375279|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29844330|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31680349|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34795310|PMID:35836572|PMID:36460718|PMID:37008293|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0070120 Meckel syndrome 6 ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18327255|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28492532|PMID:30718709 8877079 Cep290 centrosomal protein 290 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28492532|PMID:30718709 8877079 Cep290 centrosomal protein 290 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1604786 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25439097|PMID:25741868|PMID:28224992|PMID:28492532|PMID:29482223|PMID:31624253|PMID:33726816|PMID:34795310 8877079 Cep290 centrosomal protein 290 gene DOID:0080322 polycystic kidney disease ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:16909394|PMID:17345604|PMID:17564967|PMID:17705300|PMID:19466712|PMID:19764032|PMID:20683928|PMID:20690115|PMID:21245082|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31734136 8877079 Cep290 centrosomal protein 290 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 8877079 Cep290 centrosomal protein 290 gene DOID:0110136 Bardet-Biedl syndrome 14 ISO RGD:1604786 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28829391|PMID:28912962|PMID:28966547|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29217415|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31840411|PMID:31877679|PMID:31884610|PMID:31964843|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32619255|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34795310|PMID:34906470|PMID:35314707|PMID:35836572|PMID:36460718|PMID:36909829|PMID:37008293|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 8877079 Cep290 centrosomal protein 290 gene DOID:0110291 Leber congenital amaurosis 10 ISO RGD:1604786 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17554762|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28829391|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29217415|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33886416|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34795310|PMID:34906470|PMID:36909829|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0110873 holoprosencephaly 9 ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar cyst PMID:16909394|PMID:17345604|PMID:17564967|PMID:17705300|PMID:19466712|PMID:19764032|PMID:20683928|PMID:20690115|PMID:21245082|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31734136 8877079 Cep290 centrosomal protein 290 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604786 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34795310|PMID:34906470|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604786 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34321860|PMID:34795310|PMID:34906470|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604786 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34321860|PMID:34795310|PMID:34906470|PMID:36909829|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604786 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29217415|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34321860|PMID:34795310|PMID:34906470|PMID:35836572|PMID:36909829|PMID:37008293|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604786 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19763152|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20130272|PMID:20301475|PMID:20307669|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21786365|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22406018|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27821535|PMID:27848944|PMID:27894351|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28224992|PMID:28418496|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29053603|PMID:29146704|PMID:29178642|PMID:29186038|PMID:29217415|PMID:29261186|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29771326|PMID:29844330|PMID:29970488|PMID:29974258|PMID:30190494|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31054281|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32386258|PMID:32581362|PMID:32600475|PMID:32619255|PMID:32856788|PMID:32864857|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33576794|PMID:33726816|PMID:33886416|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34096792|PMID:34196655|PMID:34321860|PMID:34795310|PMID:34821546|PMID:34906470|PMID:35836572|PMID:36460718|PMID:36493848|PMID:36909829|PMID:37008293|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 8877079 Cep290 centrosomal protein 290 gene DOID:0111000 Joubert syndrome 5 ISO RGD:1604786 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18327255|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26673778|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27848944|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29217415|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29620724|PMID:29641573|PMID:29754767|PMID:29844330|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31734136|PMID:31816670|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33249554|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34795310|PMID:36909829|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0111112 nephronophthisis 1 ISO RGD:1604786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:16199547|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0111112 nephronophthisis 1 ISO RGD:1604786 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29974258|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0111112 nephronophthisis 1 ISO RGD:1604786 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29974258|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0111112 nephronophthisis 1 ISO RGD:1604786 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29974258|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1604786 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency PMID:16909394|PMID:17345604|PMID:20690115|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28497568 8877079 Cep290 centrosomal protein 290 gene DOID:10584 retinitis pigmentosa ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25377065|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29343940|PMID:29844330|PMID:30718709|PMID:33546218 8877079 Cep290 centrosomal protein 290 gene DOID:10584 retinitis pigmentosa ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29343940|PMID:29844330|PMID:30190494|PMID:30718709|PMID:33546218 8877079 Cep290 centrosomal protein 290 gene DOID:10584 retinitis pigmentosa ISO RGD:1604786 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29343940|PMID:29844330|PMID:30190494|PMID:30718709|PMID:33546218|PMID:34906470 8877079 Cep290 centrosomal protein 290 gene DOID:10584 retinitis pigmentosa ISO RGD:1604786 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29343940|PMID:29398085|PMID:29844330|PMID:30190494|PMID:30718709|PMID:31630094|PMID:32865313|PMID:33546218|PMID:33576794|PMID:34321860|PMID:34906470|PMID:36909829 8877079 Cep290 centrosomal protein 290 gene DOID:10584 retinitis pigmentosa ISO RGD:1604786 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23954617|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29343940|PMID:29398085|PMID:29844330|PMID:30190494|PMID:30718709|PMID:31630094|PMID:32865313|PMID:33546218|PMID:33576794|PMID:33924653|PMID:34321860|PMID:34906470|PMID:36909829 8877079 Cep290 centrosomal protein 290 gene DOID:1059 intellectual disability ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:16909394|PMID:17345604|PMID:17564967|PMID:17964524|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218 8877079 Cep290 centrosomal protein 290 gene DOID:1059 intellectual disability ISO RGD:1604786 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:16909394|PMID:17345604|PMID:17564967|PMID:17964524|PMID:20301475|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218 8877079 Cep290 centrosomal protein 290 gene DOID:1059 intellectual disability ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16909394|PMID:17345604|PMID:17564967|PMID:17576681|PMID:17964524|PMID:20301475|PMID:23343883|PMID:23344081|PMID:24265693|PMID:25097241|PMID:25741868|PMID:26477546|PMID:28492532|PMID:33546218|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:10907 microcephaly ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8877079 Cep290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:32037395|PMID:32581362|PMID:32865313|PMID:33105651|PMID:33546218|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:16199547|PMID:16682970|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17964524|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20690115|PMID:21153841|PMID:21602930|PMID:21866095|PMID:23027964|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23847139|PMID:25377065|PMID:25445212|PMID:25741868|PMID:26047050|PMID:26092869|PMID:26529047|PMID:26673778|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31630094|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:29146704|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32037395|PMID:32165824|PMID:32208788|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33970760|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:12712 nephronophthisis ISO RGD:1604786 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26062849|PMID:26092869|PMID:26467025|PMID:26529047|PMID:26673778|PMID:27353947|PMID:27422788|PMID:28041643|PMID:28157192|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28844315|PMID:29146704|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29974258|PMID:30193310|PMID:30559420|PMID:30718709|PMID:30902645|PMID:31091803|PMID:31630094|PMID:31734136|PMID:31877679|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32165824|PMID:32208788|PMID:32581362|PMID:32600475|PMID:32856788|PMID:32865313|PMID:33105651|PMID:33308271|PMID:33502066|PMID:33532864|PMID:33546218|PMID:33574314|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34906470|PMID:36909829|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:1432 blindness ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Blindness PMID:16909394|PMID:17345604|PMID:17564967|PMID:20683928|PMID:20690115|PMID:21866095|PMID:23188109|PMID:23847139|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:31091803|PMID:31734136 8877079 Cep290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29844330|PMID:30718709|PMID:31091803|PMID:31630094|PMID:31680349|PMID:31734136|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:34196655|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:29482223|PMID:29588463|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29398085|PMID:29482223|PMID:29588463|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31884610|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29771326|PMID:29844330|PMID:29974258|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22446187|PMID:22693042|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29771326|PMID:29844330|PMID:29974258|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33546218|PMID:33726816|PMID:34196655|PMID:34795310|PMID:34906470|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604786 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17617513|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:19959640|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22334370|PMID:22355252|PMID:22446187|PMID:22693042|PMID:22699515|PMID:23027964|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23661368|PMID:23847139|PMID:23954617|PMID:24265693|PMID:24474277|PMID:24850569|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26529047|PMID:26667666|PMID:26673778|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27422788|PMID:27434533|PMID:27491411|PMID:27894351|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28771248|PMID:28829391|PMID:28844315|PMID:28912962|PMID:28973549|PMID:29146704|PMID:29178642|PMID:29343940|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29771326|PMID:29844330|PMID:29974258|PMID:30718709|PMID:30776697|PMID:30879067|PMID:30897646|PMID:30902645|PMID:31091803|PMID:31411728|PMID:31624253|PMID:31630094|PMID:31680349|PMID:31734136|PMID:31816670|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32208788|PMID:32581362|PMID:32864857|PMID:32865313|PMID:33249554|PMID:33546218|PMID:33726816|PMID:33924653|PMID:34196655|PMID:34795310|PMID:34906470|PMID:35836572|PMID:36460718|PMID:36909829|PMID:37008293|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:18414213|PMID:25741868|PMID:28492532 8877079 Cep290 centrosomal protein 290 gene DOID:2975 cystic kidney disease ISO RGD:1323204 D RGD:9068941 20220825 MouseDO 8877079 Cep290 centrosomal protein 290 gene DOID:557 kidney disease ISO RGD:1604786 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:16909394|PMID:17345604|PMID:17564967|PMID:20690115|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31970223|PMID:32856788|PMID:33502066|PMID:33574314|PMID:33970760 8877079 Cep290 centrosomal protein 290 gene DOID:630 genetic disease ISO RGD:1604786 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17617513|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26467025|PMID:26673778|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29754767|PMID:29771326|PMID:31734136|PMID:31816670|PMID:32036094|PMID:32865313|PMID:33308271 8877079 Cep290 centrosomal protein 290 gene DOID:8466 retinal degeneration ISO RGD:1323204 D RGD:9068941 20200609 RGD PMID:16632484|REF_RGD_ID:8662295 8877079 Cep290 centrosomal protein 290 gene DOID:8466 retinal degeneration onset ISO RGD:1557212 D RGD:9068941 20200609 RGD PMID:26936822|REF_RGD_ID:11537380 8877079 Cep290 centrosomal protein 290 gene DOID:8499 night blindness ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Night blindness PMID:16909394|PMID:17345604|PMID:20683928|PMID:20690115|PMID:25741868|PMID:28492532 8877079 Cep290 centrosomal protein 290 gene DOID:8501 fundus dystrophy ISO RGD:1604786 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:22699515|PMID:23034536|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:25097241|PMID:25377065|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26673778|PMID:27032803|PMID:27208204|PMID:27353947|PMID:27375279|PMID:27434533|PMID:27491411|PMID:28041643|PMID:28418496|PMID:28492532|PMID:28497568|PMID:28510626|PMID:28559085|PMID:28660274|PMID:28829391|PMID:28966547|PMID:28973549|PMID:29178642|PMID:29398085|PMID:29771326|PMID:30718709|PMID:30897646|PMID:30902645|PMID:31091803|PMID:31734136|PMID:31884610|PMID:32036094|PMID:32037395|PMID:32865313|PMID:33546218|PMID:33576794|PMID:34321860|PMID:35836572|PMID:36460718|PMID:36909829|PMID:37008293 8877079 Cep290 centrosomal protein 290 gene DOID:9000378 Congenital Anosmia ISO RGD:1323204 D RGD:9068941 20200609 RGD PMID:17898177|REF_RGD_ID:8662303 8877079 Cep290 centrosomal protein 290 gene DOID:9000702 Stuve-Wiedemann Syndrome 2 ISO RGD:1604786 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 PMID:25741868|PMID:28492532 8877079 Cep290 centrosomal protein 290 gene DOID:9000983 Encephalocele ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalocele | ClinVar Annotator: match by term: Occipital encephalocele PMID:16909394|PMID:17345604|PMID:17564967|PMID:17564974|PMID:17705300|PMID:20683928|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25525159|PMID:25741868|PMID:26092869|PMID:27894351|PMID:28492532|PMID:28497568|PMID:29398085|PMID:31680349|PMID:31734136 8877079 Cep290 centrosomal protein 290 gene DOID:9006534 Nervous System Malformations ISO RGD:1604786 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:18414213|PMID:20690115|PMID:21068128|PMID:21245082|PMID:22355252|PMID:22693042|PMID:23591405|PMID:23954617|PMID:25377065|PMID:25741868|PMID:25818971|PMID:26092869|PMID:27353947|PMID:28492532|PMID:28559085|PMID:30718709 8877079 Cep290 centrosomal protein 290 gene DOID:9008086 Developmental Disabilities ISO RGD:1604786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16682973|PMID:16909394|PMID:17345604|PMID:17564967|PMID:20690115|PMID:21866095|PMID:23847139|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28497568|PMID:29588463|PMID:31734136 8877079 Cep290 centrosomal protein 290 gene DOID:9008709 Senior-Loken Syndrome 6 ISO RGD:1604786 D RGD:7240710 20180130 OMIM 8877079 Cep290 centrosomal protein 290 gene DOID:9008709 Senior-Loken Syndrome 6 ISO RGD:1604786 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:16199547|PMID:16682970|PMID:16682973|PMID:16909394|PMID:17345604|PMID:17409309|PMID:17564967|PMID:17564974|PMID:17576681|PMID:17705300|PMID:17964524|PMID:18414213|PMID:19466712|PMID:19764032|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20690115|PMID:21068128|PMID:21153841|PMID:21245082|PMID:21493627|PMID:21602930|PMID:21866095|PMID:22355252|PMID:22693042|PMID:23027964|PMID:23188109|PMID:23343883|PMID:23344081|PMID:23351400|PMID:23559409|PMID:23591405|PMID:23847139|PMID:23954617|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25377065|PMID:25439097|PMID:25445212|PMID:25525159|PMID:25741868|PMID:25818971|PMID:25920555|PMID:26047050|PMID:26092869|PMID:26467025|PMID:26477546|PMID:26673778|PMID:27353947|PMID:27375279|PMID:28041643|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:28912962|PMID:29217415|PMID:29398085|PMID:29482223|PMID:29588463|PMID:29641573|PMID:29754767|PMID:29844330|PMID:30718709|PMID:30776697|PMID:30902645|PMID:31091803|PMID:31624253|PMID:31734136|PMID:31884610|PMID:31970223|PMID:32036094|PMID:32037395|PMID:32139166|PMID:32208788|PMID:32856788|PMID:32865313|PMID:33308271|PMID:33502066|PMID:33546218|PMID:33574314|PMID:33726816|PMID:33924653|PMID:33946315|PMID:33970760|PMID:34196655|PMID:34795310|PMID:34906470|PMID:9536098 8877079 Cep290 centrosomal protein 290 gene DOID:9650 pathologic nystagmus ISO RGD:1604786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:16909394|PMID:17345604|PMID:17564967|PMID:20683928|PMID:20690115|PMID:23188109|PMID:25525159|PMID:25741868|PMID:25920555|PMID:26092869|PMID:28492532|PMID:28497568|PMID:28559085|PMID:28829391|PMID:29398085|PMID:31091803|PMID:31734136 8877139 Pdcd2 programmed cell death 2 gene DOID:630 genetic disease ISO RGD:733734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877151 Tat tyrosine aminotransferase gene DOID:0050725 tyrosinemia type II ISO RGD:736963 D RGD:7240710 20180214 OMIM 8877151 Tat tyrosine aminotransferase gene DOID:0050725 tyrosinemia type II ISO RGD:736963 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tyrosinemia type II PMID:1357662|PMID:16199547|PMID:16917729|PMID:17576681|PMID:18577048|PMID:21145993|PMID:25741868|PMID:25784227|PMID:27285949|PMID:27832414|PMID:28255985|PMID:28492532|PMID:31737040|PMID:36246604|PMID:9536098|PMID:9544843 8877151 Tat tyrosine aminotransferase gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8877151 Tat tyrosine aminotransferase gene DOID:10907 microcephaly ISO RGD:736963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8877151 Tat tyrosine aminotransferase gene DOID:630 genetic disease ISO RGD:736963 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8877151 Tat tyrosine aminotransferase gene DOID:9275 tyrosinemia ISO RGD:736963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertyrosinemia 8877151 Tat tyrosine aminotransferase gene DOID:9275 tyrosinemia susceptibility ISO RGD:736963 D RGD:9068941 20200609 RGD DNA:point mutations PMID:1357662|REF_RGD_ID:1600125 8877170 Mrpl16 mitochondrial ribosomal protein L16 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1354403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8877170 Mrpl16 mitochondrial ribosomal protein L16 gene DOID:1059 intellectual disability ISO RGD:1354403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8877170 Mrpl16 mitochondrial ribosomal protein L16 gene DOID:630 genetic disease ISO RGD:1354403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877178 Napa NSF attachment protein alpha gene DOID:630 genetic disease ISO RGD:733353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877199 Smco1 single-pass membrane protein with coiled-coil domains 1 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1604495 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8877199 Smco1 single-pass membrane protein with coiled-coil domains 1 gene DOID:12849 autistic disorder ISO RGD:1604495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8877199 Smco1 single-pass membrane protein with coiled-coil domains 1 gene DOID:5419 schizophrenia ISO RGD:1604495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8877199 Smco1 single-pass membrane protein with coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1604495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877206 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1623777 D RGD:9068941 20220825 MouseDO 8877206 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1346816 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10319589|PMID:24627108|PMID:25025039|PMID:25164601|PMID:25741868|PMID:26558264|PMID:28492532 8877206 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:15024724|PMID:28116333|PMID:28492532 8877206 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:423 myopathy ISO RGD:1346816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 8877206 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:630 genetic disease ISO RGD:1346816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8877206 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:7319 axonal neuropathy ISO RGD:1346816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868 8877206 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:9002402 Slowed Nerve Conduction Velocity, Autosomal Dominant ISO RGD:1346816 D RGD:7240710 20180130 OMIM 8877206 Arhgef10 Rho guanine nucleotide exchange factor 10 gene DOID:9002402 Slowed Nerve Conduction Velocity, Autosomal Dominant ISO RGD:1346816 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal dominant slowed nerve conduction velocity PMID:10319589|PMID:14508709|PMID:21719701|PMID:25025039|PMID:25164601|PMID:25741868|PMID:26558264|PMID:28492532|PMID:29653320|PMID:9678704 8877243 Pet117 PET117 homolog gene DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 ISO RGD:5688594 D RGD:7240710 20201111 OMIM 8877243 Pet117 PET117 homolog gene DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 ISO RGD:5688594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 PMID:25741868|PMID:28386624 8877243 Pet117 PET117 homolog gene DOID:630 genetic disease ISO RGD:5688594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877249 Lrrc20 leucine rich repeat containing 20 gene DOID:630 genetic disease ISO RGD:1602483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877264 Rgs22 regulator of G protein signaling 22 gene DOID:0111590 Cohen syndrome ISO RGD:1606803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8877264 Rgs22 regulator of G protein signaling 22 gene DOID:630 genetic disease ISO RGD:1606803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:0080322 polycystic kidney disease ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:12490538|REF_RGD_ID:1642471 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:0080820 occupational asthma ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27504716 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:11394 adult respiratory distress syndrome ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10881173 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:12849 autistic disorder ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15301788 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:1540 parathyroid carcinoma ISO RGD:735872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:1724 duodenal ulcer ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18451993 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:2218 blood platelet disease ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18451993 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:2316 brain ischemia ISO RGD:67366 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:15306117|REF_RGD_ID:1642465 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:2615 papilloma ISO RGD:67366 D RGD:9068941 20200609 RGD associated with Bladder Neoplasms;mRNA:increased expression:bladder PMID:16621493|REF_RGD_ID:1642457 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:2671 transitional cell carcinoma ISO RGD:67366 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder PMID:16621493|REF_RGD_ID:1642457 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:2723 dermatitis ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18287786 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:2841 asthma ISO RGD:67366 D RGD:9068941 20200609 RGD PMID:15557087|REF_RGD_ID:1642462 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15816863 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:4195 hyperglycemia ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased activity:vascular associated smooth muscle cell PMID:7635966|REF_RGD_ID:1642443 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:630 genetic disease ISO RGD:735872 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:655 inherited metabolic disorder ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18451993 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9000368 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets ISO RGD:735872 D RGD:7240710 20190424 OMIM 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9000368 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets ISO RGD:735872 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS PMID:18451993|PMID:23268370|PMID:25102815|PMID:25741868|PMID:28492532 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9000972 Fever ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased phosphorylation:lung PMID:16933973|REF_RGD_ID:1642453 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:17459512|REF_RGD_ID:1642445 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9002211 Hyperalgesia ISO RGD:67366 D RGD:9068941 20200609 RGD PMID:16203828|REF_RGD_ID:1642461 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9002498 Wallerian Degeneration ISO RGD:11116 D RGD:9068941 20200609 RGD PMID:18718965|REF_RGD_ID:6482738 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9002498 Wallerian Degeneration ISO RGD:67366 D RGD:9068941 20200609 RGD PMID:14664823|REF_RGD_ID:1642469 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9004009 Reperfusion Injury ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased activity:alveolar macrophage PMID:1642455|REF_RGD_ID:1642456 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9004484 Sepsis ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:9879654|REF_RGD_ID:1642481 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9005372 Inflammation ISO RGD:67366 D RGD:9068941 20200609 RGD PMID:17305324|REF_RGD_ID:1642446 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9006646 Metabolic Syndrome ISO RGD:67366 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:21172452|REF_RGD_ID:6482748 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9007730 Burns ISO RGD:67366 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:17483741|REF_RGD_ID:1642444 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9008939 Breast Neoplasms ISO RGD:735872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21119660 8877296 Pla2g4a phospholipase A2 group IVA gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8877326 Runx3 RUNX family transcription factor 3 gene DOID:0050589 inflammatory bowel disease ISO RGD:734144 D RGD:9068941 20220825 MouseDO 8877326 Runx3 RUNX family transcription factor 3 gene DOID:0060037 developmental disorder of mental health ISO RGD:1351530 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8877326 Runx3 RUNX family transcription factor 3 gene DOID:0060250 idiopathic scoliosis ISO RGD:734144 D RGD:9068941 20220825 MouseDO 8877326 Runx3 RUNX family transcription factor 3 gene DOID:0080600 COVID-19 ISO RGD:1351530 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8877326 Runx3 RUNX family transcription factor 3 gene DOID:10534 stomach cancer disease_progression ISO RGD:1351530 D RGD:9068941 20210409 RGD mRNA:decreased expression:stomach PMID:15386419|REF_RGD_ID:126775146 8877326 Runx3 RUNX family transcription factor 3 gene DOID:10608 celiac disease ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 8877326 Runx3 RUNX family transcription factor 3 gene DOID:11054 urinary bladder cancer ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:promoter:aberrant methylation PMID:16230397|REF_RGD_ID:2302553 8877326 Runx3 RUNX family transcription factor 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8877326 Runx3 RUNX family transcription factor 3 gene DOID:1612 breast cancer ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:promoter:hypermethylation protein:mislocalization PMID:16818622|REF_RGD_ID:2302554 8877326 Runx3 RUNX family transcription factor 3 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:hypermethylation, loss of heterozygosity (human) PMID:18475302|REF_RGD_ID:2324956 8877326 Runx3 RUNX family transcription factor 3 gene DOID:2152 ovary epithelial cancer ISO RGD:1351530 D RGD:9068941 20200609 RGD mRNA:expression:increased PMID:18937968|REF_RGD_ID:2302556 8877326 Runx3 RUNX family transcription factor 3 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1351530 D RGD:9068941 20200609 RGD PMID:26175272|REF_RGD_ID:18337279 8877326 Runx3 RUNX family transcription factor 3 gene DOID:2841 asthma ISO RGD:734144 D RGD:9068941 20220825 MouseDO OMIM:600807 8877326 Runx3 RUNX family transcription factor 3 gene DOID:2871 endometrial carcinoma ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:promoter:hypermethylated PMID:18572225|REF_RGD_ID:2302555 8877326 Runx3 RUNX family transcription factor 3 gene DOID:299 adenocarcinoma ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8877326 Runx3 RUNX family transcription factor 3 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:promoter:hypermethylation protein:mislocalization PMID:18256927|REF_RGD_ID:2302557 8877326 Runx3 RUNX family transcription factor 3 gene DOID:3068 glioblastoma ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16909125 8877326 Runx3 RUNX family transcription factor 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1351530 D RGD:9068941 20210409 RGD mRNA:decreased expression:esophagus mucosa PMID:18500170|REF_RGD_ID:126779568 8877326 Runx3 RUNX family transcription factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1351530 D RGD:9068941 20210409 RGD DNA:hypermethylation:promoter PMID:18349282|REF_RGD_ID:13503324 8877326 Runx3 RUNX family transcription factor 3 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:25520863|REF_RGD_ID:13792554 8877326 Runx3 RUNX family transcription factor 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1351530 D RGD:9068941 20200609 RGD protein:decreased expression:bile duct PMID:19827872|REF_RGD_ID:2324955 8877326 Runx3 RUNX family transcription factor 3 gene DOID:630 genetic disease ISO RGD:1351530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877326 Runx3 RUNX family transcription factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28458013 8877326 Runx3 RUNX family transcription factor 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351530 D RGD:9068941 20210409 RGD mRNA:decreased expression:liver PMID:17094378|REF_RGD_ID:126775147 8877326 Runx3 RUNX family transcription factor 3 gene DOID:7147 ankylosing spondylitis ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 8877326 Runx3 RUNX family transcription factor 3 gene DOID:8719 in situ carcinoma ISO RGD:1351530 D RGD:9068941 20200609 RGD associated with Biliary Tract Neoplasms; DNA:hypermethylation:promoter PMID:19763613|REF_RGD_ID:2324958 8877326 Runx3 RUNX family transcription factor 3 gene DOID:8893 psoriasis ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 8877326 Runx3 RUNX family transcription factor 3 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15471559|REF_RGD_ID:2324957 8877326 Runx3 RUNX family transcription factor 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18058463 8877326 Runx3 RUNX family transcription factor 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8877326 Runx3 RUNX family transcription factor 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:promoter:hypermethylation PMID:15386381|REF_RGD_ID:2302551 8877326 Runx3 RUNX family transcription factor 3 gene DOID:9002936 Bile Duct Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15471559|REF_RGD_ID:2324957 8877326 Runx3 RUNX family transcription factor 3 gene DOID:9004351 Digestive System Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15471559|REF_RGD_ID:2324957 8877326 Runx3 RUNX family transcription factor 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8877326 Runx3 RUNX family transcription factor 3 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 8877326 Runx3 RUNX family transcription factor 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351530 D RGD:9068941 20200609 RGD DNA:promoter:aberrant methylation PMID:16080503|REF_RGD_ID:2302552 8877326 Runx3 RUNX family transcription factor 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1351530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 8877326 Runx3 RUNX family transcription factor 3 gene DOID:9256 colorectal cancer ISO RGD:1351530 D RGD:9068941 20210409 RGD PMID:25925209|REF_RGD_ID:126779569 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0050469 Costello syndrome ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS syndrome PMID:10716188|PMID:11150980|PMID:12835555|PMID:1362901|PMID:15491620|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16199547|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16474405|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16921267|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19995790|PMID:20112233|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20949621|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22318994|PMID:22420426|PMID:22488832|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23321623|PMID:23335589|PMID:23406027|PMID:23412389|PMID:23429430|PMID:23487764|PMID:23548900|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24390138|PMID:24728327|PMID:24803665|PMID:25070542|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25668678|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26467218|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26633542|PMID:2674130|PMID:26778095|PMID:26806338|PMID:26888048|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27468687|PMID:27589201|PMID:28002430|PMID:28027064|PMID:28139825|PMID:28179458|PMID:28328122|PMID:28371260|PMID:28390077|PMID:28489335|PMID:28492532|PMID:29493581|PMID:2999610|PMID:3004741|PMID:30055033|PMID:30138938|PMID:3018526|PMID:30191474|PMID:30732632|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32313153|PMID:32371413|PMID:32499600|PMID:32732226|PMID:3283542|PMID:33027564|PMID:3304147|PMID:33372952|PMID:34008892|PMID:34618388|PMID:34958143|PMID:3537694|PMID:6092966|PMID:6287572|PMID:6287573|PMID:6288698|PMID:6330729|PMID:7177195|PMID:8605880|PMID:8626650|PMID:8960317|PMID:9536098 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1604547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1604547 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22683711|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0060581 Noonan syndrome 3 ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:12727991|PMID:1904555|PMID:19855393|PMID:25157968|PMID:26619011|PMID:31775759|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0080690 RASopathy ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604547 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0111162 epidermal nevus ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous | ClinVar Annotator: match by term: Woolly hair nevus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25742471|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33027564|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0111359 large congenital melanocytic nevus ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:32165824 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32165824|PMID:33027564 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0111854 primary ciliary dyskinesia 39 ISO RGD:1604547 D RGD:7240710 20190315 OMIM 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0111854 primary ciliary dyskinesia 39 ISO RGD:1604547 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 PMID:25741868|PMID:28492532|PMID:30388400 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1604547 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:20937837|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31775759|PMID:32732226|PMID:33027564|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:1059 intellectual disability ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:11054 urinary bladder cancer ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Urinary bladder cancer PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:32165824|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:1107 esophageal carcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:1107 esophageal carcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:14566 disease of cellular proliferation ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24006476|PMID:24033266|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:14791 Leber congenital amaurosis ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:17979197|PMID:18042262|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22317973|PMID:22420426|PMID:23093928|PMID:23751039|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25741868|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28492532|PMID:32165824 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:1909 melanoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:1909 melanoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:2394 ovarian cancer ISO RGD:1604547 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:2526 prostate adenocarcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:2671 transitional cell carcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3068 glioblastoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3247 rhabdomyosarcoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3275 thymoma ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Thymoma PMID:20859122|PMID:24224811|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27283355|PMID:31775759|PMID:32732226|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3490 Noonan syndrome ISO RGD:1604547 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26580448|PMID:26619011|PMID:26778095|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:363 uterine cancer ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3717 gastric adenocarcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:20937837|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31775759|PMID:32732226|PMID:33027564|PMID:34958143|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10716188|PMID:21779495|PMID:24033266|PMID:25741868|PMID:2674130|PMID:28492532|PMID:29493581|PMID:3004741|PMID:3283542|PMID:3304147|PMID:6287572|PMID:6287573|PMID:6288698 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:3910 lung adenocarcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:4007 bladder carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:18039947|PMID:18042262|PMID:19382114|PMID:21850009|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28027064|PMID:28492532|PMID:31394527 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:4465 papillary renal cell carcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:5834 spermatocytoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:12727991|PMID:19855393|PMID:25157968|PMID:31775759 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:6171 uterine carcinosarcoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:630 genetic disease ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17384584|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19255327|PMID:19371735|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23093928|PMID:23406027|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8605880|PMID:8960317|PMID:9536098 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:6420 pulmonary valve stenosis ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:6536 plasma cell neoplasm ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:684 hepatocellular carcinoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:684 hepatocellular carcinoma ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:684 hepatocellular carcinoma ISO RGD:1604547 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:684 hepatocellular carcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:7608 parathyroid adenoma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:25741868|PMID:35738466 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:8923 skin melanoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:25741868|PMID:35738466 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1604547 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:20937837|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31775759|PMID:32732226|PMID:33027564|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32165824|PMID:33027564 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salivary gland neoplasm PMID:17384584|PMID:19255327|PMID:19773371|PMID:23406027|PMID:24006476|PMID:25157968|PMID:25695684|PMID:25741868 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9003571 Paraproteinemias ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28489335|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:3018526|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33027564|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1604547 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9005120 Pigmented Nevus ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:32165824 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9005820 Congenital Myopathy with Excess of Muscle Spindles ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles PMID:11150980|PMID:1362901|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17384584|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19255327|PMID:19371735|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23406027|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25070542|PMID:25157968|PMID:25668678|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26619011|PMID:26778095|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8626650|PMID:8960317 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12727991|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:19855393|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:32165824 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:17576681|PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532|PMID:9536098 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9008386 Hydrops Fetalis ISO RGD:1604547 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:12835555|PMID:16170316|PMID:16329078|PMID:16443854|PMID:17384584|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18642361|PMID:19255327|PMID:19773371|PMID:20658932|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25741868|PMID:26561417|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27444071|PMID:28371260|PMID:28492532|PMID:30191474|PMID:31222966|PMID:31775759|PMID:33027564 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28371260|PMID:28489335|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:3018526|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9008939 Breast Neoplasms ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:32165824|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9119 acute myeloid leukemia ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143 8877342 Lrrc56 leucine rich repeat containing 56 gene DOID:9538 multiple myeloma ISO RGD:1604547 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8877378 Mroh8 maestro heat like repeat family member 8 gene DOID:2234 focal epilepsy ISO RGD:1352113 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8877378 Mroh8 maestro heat like repeat family member 8 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1352113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 8877378 Mroh8 maestro heat like repeat family member 8 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1352113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 8877409 Pi15 peptidase inhibitor 15 gene DOID:630 genetic disease ISO RGD:1319988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877419 Chrna10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8877419 Chrna10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:0080773 delta beta-thalassemia ISO RGD:735581 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8877419 Chrna10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8877419 Chrna10 cholinergic receptor nicotinic alpha 10 subunit gene DOID:630 genetic disease ISO RGD:735581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1605184 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1605184 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080497 ovarian dysgenesis 5 ISO RGD:1605184 D RGD:7240710 20190315 OMIM 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080497 ovarian dysgenesis 5 ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 5 PMID:17301727|PMID:25741868|PMID:25774885 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1605184 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605184 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0111910 spermatogenic failure ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic Failure PMID:20506135|PMID:28492532|PMID:28718531 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0111925 spermatogenic failure 32 ISO RGD:1605184 D RGD:7240710 20190315 OMIM 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:0111925 spermatogenic failure 32 ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 32 PMID:20506135|PMID:28492532|PMID:28718531 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:1924 hypogonadism ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hypergonadotropic hypogonadism PMID:17301727|PMID:25741868|PMID:25774885 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:3652 Leigh disease ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:630 genetic disease ISO RGD:1605184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877429 Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1605184 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8877441 Serpina9 serpin family A member 9 gene DOID:0081063 DICER1 syndrome ISO RGD:1312435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 8877441 Serpina9 serpin family A member 9 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1312435 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 8877441 Serpina9 serpin family A member 9 gene DOID:630 genetic disease ISO RGD:1312435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877455 F2rl2 coagulation factor II thrombin receptor like 2 gene DOID:630 genetic disease ISO RGD:1348825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877455 F2rl2 coagulation factor II thrombin receptor like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8877461 Slc7a14 solute carrier family 7 member 14 gene DOID:0110374 retinitis pigmentosa 68 ISO RGD:1605648 D RGD:7240710 20180130 OMIM 8877461 Slc7a14 solute carrier family 7 member 14 gene DOID:0110374 retinitis pigmentosa 68 ISO RGD:1605648 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 68 PMID:24670872|PMID:25741868|PMID:28492532|PMID:32036094 8877461 Slc7a14 solute carrier family 7 member 14 gene DOID:10003 sensorineural hearing loss ISO RGD:1622922 D RGD:9068941 20220825 MouseDO 8877461 Slc7a14 solute carrier family 7 member 14 gene DOID:1062 Fanconi syndrome ISO RGD:1605648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8877461 Slc7a14 solute carrier family 7 member 14 gene DOID:1432 blindness ISO RGD:1622922 D RGD:9068941 20220825 MouseDO 8877461 Slc7a14 solute carrier family 7 member 14 gene DOID:630 genetic disease ISO RGD:1605648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32036094 8877461 Slc7a14 solute carrier family 7 member 14 gene DOID:8501 fundus dystrophy ISO RGD:1605648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 8877551 Gna11 G protein subunit alpha 11 gene DOID:0060701 familial hypocalciuric hypercalcemia 2 ISO RGD:1342605 D RGD:7240710 20180130 OMIM 8877551 Gna11 G protein subunit alpha 11 gene DOID:0060701 familial hypocalciuric hypercalcemia 2 ISO RGD:1342605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 PMID:17576681|PMID:23802516|PMID:23802536|PMID:25741868|PMID:26729423|PMID:28194446|PMID:28492532|PMID:9536098 8877551 Gna11 G protein subunit alpha 11 gene DOID:0080351 CLOVES syndrome ISO RGD:1342605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi PMID:25741868|PMID:27476652 8877551 Gna11 G protein subunit alpha 11 gene DOID:0090108 autosomal dominant hypocalcemia 2 ISO RGD:1342605 D RGD:7240710 20180130 OMIM 8877551 Gna11 G protein subunit alpha 11 gene DOID:0090108 autosomal dominant hypocalcemia 2 ISO RGD:1342605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 PMID:23802516|PMID:23802536|PMID:24823460|PMID:25741868|PMID:26994139|PMID:28194446|PMID:28492532|PMID:6278146 8877551 Gna11 G protein subunit alpha 11 gene DOID:0111529 familial multiple nevi flammei ISO RGD:1342605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Capillary malformations, congenital PMID:25741868|PMID:27476652 8877551 Gna11 G protein subunit alpha 11 gene DOID:1682 congenital heart disease ISO RGD:1342605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9687499 8877551 Gna11 G protein subunit alpha 11 gene DOID:1909 melanoma ISO RGD:1342605 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Melanoma PMID:1328859|PMID:21083380|PMID:21444680|PMID:22733540|PMID:22808163|PMID:24141786|PMID:25157968|PMID:2549426|PMID:25741868|PMID:26619011 8877551 Gna11 G protein subunit alpha 11 gene DOID:6039 uveal melanoma ISO RGD:1342605 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:1328859|PMID:21083380|PMID:21444680|PMID:22733540|PMID:22808163|PMID:24141786|PMID:25157968|PMID:2549426|PMID:25741868|PMID:26619011 8877551 Gna11 G protein subunit alpha 11 gene DOID:630 genetic disease ISO RGD:1342605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8877551 Gna11 G protein subunit alpha 11 gene DOID:8923 skin melanoma ISO RGD:1342605 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:1328859|PMID:21083380|PMID:21444680|PMID:22733540|PMID:22808163|PMID:24141786|PMID:25157968|PMID:2549426|PMID:25741868|PMID:26619011 8877551 Gna11 G protein subunit alpha 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8877551 Gna11 G protein subunit alpha 11 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1551128 D RGD:9068941 20200609 RGD PMID:9687499|REF_RGD_ID:737757 8877567 Ccdc8 coiled-coil domain containing 8 gene DOID:630 genetic disease ISO RGD:1351060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8877567 Ccdc8 coiled-coil domain containing 8 gene DOID:9002003 Three M Syndrome 3 ISO RGD:1351060 D RGD:7240710 20180130 OMIM 8877567 Ccdc8 coiled-coil domain containing 8 gene DOID:9002003 Three M Syndrome 3 ISO RGD:1351060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3M syndrome 3 PMID:21737058|PMID:25741868|PMID:28492532|PMID:28675896 8877572 Mylip myosin regulatory light chain interacting protein gene DOID:1936 atherosclerosis treatment ISO RGD:1313989 D RGD:9068941 20230930 RGD PMID:29593532|REF_RGD_ID:401827839 8877572 Mylip myosin regulatory light chain interacting protein gene DOID:289 endometriosis ISO RGD:1313988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8877572 Mylip myosin regulatory light chain interacting protein gene DOID:3393 coronary artery disease ISO RGD:1313988 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Coronary atherosclerosis 8877572 Mylip myosin regulatory light chain interacting protein gene DOID:630 genetic disease ISO RGD:1313988 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320 8877583 Ccdc77 coiled-coil domain containing 77 gene DOID:630 genetic disease ISO RGD:1601842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877583 Ccdc77 coiled-coil domain containing 77 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1601842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8877596 Rnf112 ring finger protein 112 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:68995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8877596 Rnf112 ring finger protein 112 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:68995 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8877596 Rnf112 ring finger protein 112 gene DOID:0110980 Joubert syndrome 1 ISO RGD:68995 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8877596 Rnf112 ring finger protein 112 gene DOID:12849 autistic disorder ISO RGD:68995 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8877596 Rnf112 ring finger protein 112 gene DOID:630 genetic disease ISO RGD:68995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877596 Rnf112 ring finger protein 112 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:68995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:733255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:733255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733255 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733255 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0081097 Rafiq syndrome ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:733255 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:10763 hypertension ISO RGD:69266 D RGD:9068941 20200609 RGD PMID:20655932|REF_RGD_ID:9685529 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15651265 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733255 D RGD:9068941 20200609 RGD PMID:15651265|REF_RGD_ID:9685530 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:1826 epilepsy ISO RGD:733255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:3070 high grade glioma ISO RGD:733255 D RGD:9068941 20200609 RGD PMID:19558578|REF_RGD_ID:9685528 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:3652 Leigh disease ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:5082 liver cirrhosis ISO RGD:733255 D RGD:9068941 20200609 RGD associated with hepatitis C PMID:15651265|REF_RGD_ID:9685530 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:630 genetic disease ISO RGD:733255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69266 D RGD:9068941 20200609 RGD PMID:15651265|REF_RGD_ID:9685530 8877618 Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8877634 Tram1 translocation associated membrane protein 1 gene DOID:630 genetic disease ISO RGD:1346981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877649 Emx2 empty spiracles homeobox 2 gene DOID:0050861 colorectal adenocarcinoma exacerbates ISO RGD:1322367 D RGD:9068941 20220811 RGD mRNA:decreased expression:colorectal mucosa (human) PMID:28830374|REF_RGD_ID:153323301 8877649 Emx2 empty spiracles homeobox 2 gene DOID:10534 stomach cancer ameliorates ISO RGD:1322367 D RGD:9068941 20220811 RGD human cells in mouse model PMID:23029345|REF_RGD_ID:153323292 8877649 Emx2 empty spiracles homeobox 2 gene DOID:1826 epilepsy ISO RGD:1322367 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8877649 Emx2 empty spiracles homeobox 2 gene DOID:3907 lung squamous cell carcinoma exacerbates ISO RGD:1322367 D RGD:9068941 20220812 RGD protein:decreased expression:lung (human) PMID:26132438|REF_RGD_ID:11079903 8877649 Emx2 empty spiracles homeobox 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1322367 D RGD:9068941 20220812 RGD mRNA,protein:decreased expression:lung (human) PMID:21726823|REF_RGD_ID:153323303 8877649 Emx2 empty spiracles homeobox 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1322367 D RGD:9068941 20220812 RGD protein:decreased expression:esophagus (human) PMID:31432154|REF_RGD_ID:153323302 8877649 Emx2 empty spiracles homeobox 2 gene DOID:630 genetic disease ISO RGD:1322367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877649 Emx2 empty spiracles homeobox 2 gene DOID:7474 malignant pleural mesothelioma exacerbates ISO RGD:1322367 D RGD:9068941 20220812 RGD mRNA:decreased expression:mesothelium of pleural cavity (human) PMID:25023662|REF_RGD_ID:153323312 8877649 Emx2 empty spiracles homeobox 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1322367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8877649 Emx2 empty spiracles homeobox 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20697358 8877649 Emx2 empty spiracles homeobox 2 gene DOID:9006637 Schizencephaly ISO RGD:1322367 D RGD:7240710 20190327 OMIM 8877649 Emx2 empty spiracles homeobox 2 gene DOID:9006637 Schizencephaly ISO RGD:1322367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:8528262|PMID:9359037 8877649 Emx2 empty spiracles homeobox 2 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1322367 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27712600|REF_RGD_ID:153323291 8877656 Pomc proopiomelanocortin gene DOID:0050117 disease by infectious agent ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6088243|PMID:6254450 8877656 Pomc proopiomelanocortin gene DOID:0050425 restless legs syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18464280 8877656 Pomc proopiomelanocortin gene DOID:0050562 West syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10908253|PMID:11341487|PMID:1324751|PMID:1327015|PMID:1656808|PMID:17287597|PMID:19039989|PMID:1965992|PMID:20078871|PMID:2551692|PMID:2554740|PMID:2853496|PMID:2983143|PMID:6107850|PMID:6143199|PMID:6254450|PMID:6259007|PMID:8381257|PMID:8928979|PMID:8980841 8877656 Pomc proopiomelanocortin gene DOID:0050589 inflammatory bowel disease ISO RGD:1331975 D RGD:9068941 20200609 RGD PMID:9145424|REF_RGD_ID:5508804 8877656 Pomc proopiomelanocortin gene DOID:0050589 inflammatory bowel disease ISO RGD:1331975 D RGD:9068941 20200609 RGD protein:alternative form:large intestine epithelium: alphaMSH PMID:21741932|REF_RGD_ID:5508805 8877656 Pomc proopiomelanocortin gene DOID:0050700 cardiomyopathy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 8877656 Pomc proopiomelanocortin gene DOID:0050741 alcohol dependence no_association ISO RGD:1352097 D RGD:9068941 20231021 RGD DNA:SNP: :rs934778 (human) PMID:24035285|REF_RGD_ID:401850579 8877656 Pomc proopiomelanocortin gene DOID:0060001 withdrawal disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15689546|PMID:15714323|PMID:20738730|PMID:225122 8877656 Pomc proopiomelanocortin gene DOID:0080784 urinary tract infection ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 8877656 Pomc proopiomelanocortin gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1352097 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417|PMID:32435502 8877656 Pomc proopiomelanocortin gene DOID:10763 hypertension ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10100081|PMID:10474778|PMID:10513829|PMID:10658937|PMID:11071300|PMID:11071304|PMID:11132610|PMID:11193135|PMID:11518849|PMID:11560123|PMID:11703388|PMID:12872045|PMID:12887135|PMID:1316127|PMID:1321011|PMID:1321309|PMID:1327015|PMID:1330390|PMID:1334993|PMID:15110907|PMID:15132301|PMID:15554453|PMID:16053986|PMID:16243970|PMID:1649024|PMID:16546835|PMID:16620303|PMID:1664305|PMID:17324744|PMID:17954371|PMID:17994356|PMID:18067589|PMID:18487447|PMID:187612|PMID:19153526|PMID:19458537|PMID:20186125|PMID:20659135|PMID:2157753|PMID:216942|PMID:2455169|PMID:2551692|PMID:2821097|PMID:2822310|PMID:2849322|PMID:2992854|PMID:3001556|PMID:3015460|PMID:323586|PMID:4367732|PMID:6088243|PMID:6089027|PMID:6097376|PMID:6100240|PMID:6135010|PMID:6143199|PMID:6254450|PMID:6274577|PMID:6279500|PMID:6283272|PMID:76749|PMID:8136112|PMID:8261660|PMID:8279378|PMID:8713685|PMID:8800598|PMID:9056691|PMID:9535146 8877656 Pomc proopiomelanocortin gene DOID:10914 amnestic disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2841920 8877656 Pomc proopiomelanocortin gene DOID:11206 opioid abuse ISO RGD:1331975 D RGD:9068941 20231111 RGD mRNA:increased expression:ventral striatum PMID:30059705|REF_RGD_ID:401900306 8877656 Pomc proopiomelanocortin gene DOID:11476 osteoporosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19153526|PMID:3017235|PMID:4367732|PMID:6143199|PMID:6254450 8877656 Pomc proopiomelanocortin gene DOID:1156 chondrocalcinosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8035395 8877656 Pomc proopiomelanocortin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2536513|PMID:2831920|PMID:2853496|PMID:8381257|PMID:8928979 8877656 Pomc proopiomelanocortin gene DOID:12556 acute kidney tubular necrosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4358912|PMID:6254450 8877656 Pomc proopiomelanocortin gene DOID:12679 nephrocalcinosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3017235 8877656 Pomc proopiomelanocortin gene DOID:12849 autistic disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8570775 8877656 Pomc proopiomelanocortin gene DOID:13580 cholestasis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3421781 8877656 Pomc proopiomelanocortin gene DOID:13884 sick sinus syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19039989 8877656 Pomc proopiomelanocortin gene DOID:13934 facial paralysis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4327920 8877656 Pomc proopiomelanocortin gene DOID:150 disease of mental health ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056188 8877656 Pomc proopiomelanocortin gene DOID:1529 penile disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1358647|PMID:2825910|PMID:3033702 8877656 Pomc proopiomelanocortin gene DOID:1574 alcohol use disorder ISO RGD:3366 D RGD:9068941 20240222 RGD protein:decreased expression:brain (rat) PMID:18162070|REF_RGD_ID:401976284 8877656 Pomc proopiomelanocortin gene DOID:1596 depressive disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18201294 8877656 Pomc proopiomelanocortin gene DOID:1679 cystitis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1267567 8877656 Pomc proopiomelanocortin gene DOID:182 calcinosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 8877656 Pomc proopiomelanocortin gene DOID:1826 epilepsy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20708863 8877656 Pomc proopiomelanocortin gene DOID:1909 melanoma ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24412703 8877656 Pomc proopiomelanocortin gene DOID:1969 cerebral palsy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8980841 8877656 Pomc proopiomelanocortin gene DOID:2377 multiple sclerosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2843795|PMID:9664777 8877656 Pomc proopiomelanocortin gene DOID:26 pancreas disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 8877656 Pomc proopiomelanocortin gene DOID:2703 synovitis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8035395 8877656 Pomc proopiomelanocortin gene DOID:2843 long QT syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19931775 8877656 Pomc proopiomelanocortin gene DOID:2914 immune system disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6107850 8877656 Pomc proopiomelanocortin gene DOID:2921 glomerulonephritis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4368615|PMID:6300362 8877656 Pomc proopiomelanocortin gene DOID:2945 severe acute respiratory syndrome ISO RGD:1352097 D RGD:9068941 20200609 RGD protein:decreased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 8877656 Pomc proopiomelanocortin gene DOID:2987 familial mediterranean fever ISO RGD:1352097 D RGD:9068941 20200609 RGD protein: decreassed expression: plasma: ACTH PMID:21428190|REF_RGD_ID:5508806 8877656 Pomc proopiomelanocortin gene DOID:3021 acute kidney failure ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17216604 8877656 Pomc proopiomelanocortin gene DOID:3312 bipolar disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2843795|PMID:9664777 8877656 Pomc proopiomelanocortin gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16809932 8877656 Pomc proopiomelanocortin gene DOID:3952 adrenal cortex disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11370731 8877656 Pomc proopiomelanocortin gene DOID:437 myasthenia gravis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4323972 8877656 Pomc proopiomelanocortin gene DOID:4450 renal cell carcinoma ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2844640 8877656 Pomc proopiomelanocortin gene DOID:4500 hypokalemia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10100081|PMID:1327015|PMID:323586|PMID:4323972|PMID:6254450|PMID:6258369|PMID:6279499|PMID:8035395|PMID:8562174 8877656 Pomc proopiomelanocortin gene DOID:535 sleep disorder ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18464280 8877656 Pomc proopiomelanocortin gene DOID:552 pneumonia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 8877656 Pomc proopiomelanocortin gene DOID:557 kidney disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6143199 8877656 Pomc proopiomelanocortin gene DOID:5614 eye disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4340068 8877656 Pomc proopiomelanocortin gene DOID:576 proteinuria ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4368615 8877656 Pomc proopiomelanocortin gene DOID:5805 subvalvular aortic stenosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1965992 8877656 Pomc proopiomelanocortin gene DOID:6000 congestive heart failure ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3026683|PMID:8277081 8877656 Pomc proopiomelanocortin gene DOID:630 genetic disease ISO RGD:1352097 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868 8877656 Pomc proopiomelanocortin gene DOID:77 gastrointestinal system disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 8877656 Pomc proopiomelanocortin gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4371370 8877656 Pomc proopiomelanocortin gene DOID:8398 osteoarthritis ISO RGD:1352097 D RGD:9068941 20200609 RGD PMID:21378032|REF_RGD_ID:5508809 8877656 Pomc proopiomelanocortin gene DOID:9000197 Edema ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1459535|PMID:4327920|PMID:8562174 8877656 Pomc proopiomelanocortin gene DOID:9000363 Hematuria ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1267567|PMID:1324751 8877656 Pomc proopiomelanocortin gene DOID:9000641 Pain ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20084599|PMID:4345333|PMID:6094376 8877656 Pomc proopiomelanocortin gene DOID:9000790 Postoperative Complications ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4371370 8877656 Pomc proopiomelanocortin gene DOID:9000972 Fever ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8877656 Pomc proopiomelanocortin gene DOID:9001048 Nociceptive Pain ISO RGD:1331975 D RGD:9068941 20200609 RGD PMID:21380811|REF_RGD_ID:5508807 8877656 Pomc proopiomelanocortin gene DOID:9001087 Opsoclonus-Myoclonus Syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1318289 8877656 Pomc proopiomelanocortin gene DOID:9001131 stress-related disorder ISO RGD:3366 D RGD:9068941 20240222 RGD mRNA:increased expression:amygdala (rat) PMID:28511993|REF_RGD_ID:401976432 8877656 Pomc proopiomelanocortin gene DOID:9001173 ACTH Syndrome, Ectopic ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1459535|PMID:2844640|PMID:4367732|PMID:8562174 8877656 Pomc proopiomelanocortin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16508911|PMID:16511523 8877656 Pomc proopiomelanocortin gene DOID:9001579 Neurogenic Inflammation ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19333140 8877656 Pomc proopiomelanocortin gene DOID:9001581 Constipation ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3421781 8877656 Pomc proopiomelanocortin gene DOID:9001738 Hypercalciuria ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324751|PMID:3017235 8877656 Pomc proopiomelanocortin gene DOID:9001981 Weight Loss ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11193135|PMID:1459535 8877656 Pomc proopiomelanocortin gene DOID:9002315 Kidney Calculi ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324751 8877656 Pomc proopiomelanocortin gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3366 D RGD:9068941 20231102 RGD PMID:25102697|REF_RGD_ID:401851905 8877656 Pomc proopiomelanocortin gene DOID:9002669 Hypoxia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734|PMID:24412703 8877656 Pomc proopiomelanocortin gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 8877656 Pomc proopiomelanocortin gene DOID:9002801 Recurrence ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20078871 8877656 Pomc proopiomelanocortin gene DOID:9002916 Hyperphagia ISO RGD:1352097 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:15189116|REF_RGD_ID:1357925 8877656 Pomc proopiomelanocortin gene DOID:9003049 Femur Head Necrosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4326745 8877656 Pomc proopiomelanocortin gene DOID:9003122 Rhabdomyoma ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908253 8877656 Pomc proopiomelanocortin gene DOID:9003194 Eye Pain ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4327920 8877656 Pomc proopiomelanocortin gene DOID:9003805 Catalepsy ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2999739|PMID:6329457 8877656 Pomc proopiomelanocortin gene DOID:9003936 Cardiomegaly ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19039989|PMID:1965992|PMID:2821097|PMID:6088243|PMID:8279378|PMID:8381257 8877656 Pomc proopiomelanocortin gene DOID:9004507 Hirsutism ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1324751 8877656 Pomc proopiomelanocortin gene DOID:9004590 Acute Liver Failure ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15313186 8877656 Pomc proopiomelanocortin gene DOID:9004657 Weight Gain ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4367732|PMID:6143199 8877656 Pomc proopiomelanocortin gene DOID:9004751 Nausea ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11141589 8877656 Pomc proopiomelanocortin gene DOID:9005103 Proopiomelanocortin Deficiency ISO RGD:1352097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity, adrenal insufficiency, and red hair due to POMC deficiency | ClinVar Annotator: match by term: POMC-related condition | ClinVar Annotator: match by term: Proopiomelanocortin deficiency PMID:12165561|PMID:14557433|PMID:16459314|PMID:18091355|PMID:18697863|PMID:18765507|PMID:19221669|PMID:20349035|PMID:23293326|PMID:23649472|PMID:25741868|PMID:27906547|PMID:28492532|PMID:9620771 8877656 Pomc proopiomelanocortin gene DOID:9005103 Proopiomelanocortin Deficiency susceptibility ISO RGD:1352097 D RGD:7240710 20240320 OMIM 8877656 Pomc proopiomelanocortin gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6088243 8877656 Pomc proopiomelanocortin gene DOID:9005158 Cushing Syndrome ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19153526|PMID:6088243 8877656 Pomc proopiomelanocortin gene DOID:9005253 Hypernatremia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10100081|PMID:6279499 8877656 Pomc proopiomelanocortin gene DOID:9005372 Inflammation ISO RGD:1331975 D RGD:9068941 20200609 RGD Protein:::alphaMSH[11-13] PMID:2550304|REF_RGD_ID:5508803 8877656 Pomc proopiomelanocortin gene DOID:9005372 Inflammation ISO RGD:1331975 D RGD:9068941 20200609 RGD protein: increased expression PMID:21378282|REF_RGD_ID:5508808 8877656 Pomc proopiomelanocortin gene DOID:9005372 Inflammation ISO RGD:1352097 D RGD:9068941 20200609 RGD protein: increased expression PMID:21378282|REF_RGD_ID:5508808 8877656 Pomc proopiomelanocortin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11750770|PMID:16520439|PMID:18201294|PMID:19279569 8877656 Pomc proopiomelanocortin gene DOID:9005749 Necrosis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7608651 8877656 Pomc proopiomelanocortin gene DOID:9006024 Hypotension ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:2536002|PMID:2566129|PMID:2636709 8877656 Pomc proopiomelanocortin gene DOID:9006570 Sacroiliitis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19533139 8877656 Pomc proopiomelanocortin gene DOID:9007001 Bradycardia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:19039989|PMID:2636709 8877656 Pomc proopiomelanocortin gene DOID:9007102 Myocardial Ischemia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10908253 8877656 Pomc proopiomelanocortin gene DOID:9007590 Gouty Arthritis ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8035395 8877656 Pomc proopiomelanocortin gene DOID:9007633 Body Weight ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1316127 8877656 Pomc proopiomelanocortin gene DOID:9007730 Burns ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2968671 8877656 Pomc proopiomelanocortin gene DOID:9008217 Hemorrhage ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1267567|PMID:3014908 8877656 Pomc proopiomelanocortin gene DOID:9008760 Oliguria ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6254450 8877656 Pomc proopiomelanocortin gene DOID:9009050 Hypocalcemia ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3017235 8877656 Pomc proopiomelanocortin gene DOID:9351 diabetes mellitus ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19153526 8877656 Pomc proopiomelanocortin gene DOID:9409 diabetes insipidus ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6258694 8877656 Pomc proopiomelanocortin gene DOID:9452 steatotic liver disease ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:167377 8877656 Pomc proopiomelanocortin gene DOID:9970 obesity ISO RGD:1352097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, early-onset, susceptibility to PMID:10193875|PMID:11941477|PMID:12165561|PMID:14557433|PMID:16459314|PMID:18091355|PMID:18697863|PMID:19221669|PMID:20349035|PMID:23293326|PMID:25741868|PMID:28492532|PMID:29970488|PMID:8302318|PMID:9620771|PMID:9768693 8877656 Pomc proopiomelanocortin gene DOID:9970 obesity ISO RGD:1352097 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, early-onset, susceptibility to PMID:10193875|PMID:11941477|PMID:12165561|PMID:14557433|PMID:16459314|PMID:18091355|PMID:18697863|PMID:19221669|PMID:20349035|PMID:23293326|PMID:23649472|PMID:25741868|PMID:27906547|PMID:28492532|PMID:29970488|PMID:35574020|PMID:8302318|PMID:9620771|PMID:9768693 8877656 Pomc proopiomelanocortin gene DOID:9970 obesity susceptibility ISO RGD:1352097 D RGD:7240710 20240320 OMIM 8877656 Pomc proopiomelanocortin gene DOID:9976 heroin dependence ISO RGD:1352097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18201294 8877664 Maged2 MAGE family member D2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8877664 Maged2 MAGE family member D2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:734427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8877664 Maged2 MAGE family member D2 gene DOID:0110147 Bartter disease type 5 ISO RGD:734427 D RGD:7240710 20190315 OMIM 8877664 Maged2 MAGE family member D2 gene DOID:0110147 Bartter disease type 5 ISO RGD:734427 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Bartter disease type 5 PMID:25741868|PMID:27120771|PMID:28492532|PMID:29146702|PMID:29758562 8877664 Maged2 MAGE family member D2 gene DOID:12849 autistic disorder ISO RGD:734427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8877664 Maged2 MAGE family member D2 gene DOID:2785 Dandy-Walker syndrome ISO RGD:734427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome 8877664 Maged2 MAGE family member D2 gene DOID:630 genetic disease ISO RGD:734427 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8877694 Capg capping actin protein, gelsolin like gene DOID:0080600 COVID-19 ISO RGD:1323330 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8877694 Capg capping actin protein, gelsolin like gene DOID:3910 lung adenocarcinoma ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8877694 Capg capping actin protein, gelsolin like gene DOID:4450 renal cell carcinoma ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8877694 Capg capping actin protein, gelsolin like gene DOID:630 genetic disease ISO RGD:1323330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877694 Capg capping actin protein, gelsolin like gene DOID:9000058 Keloid ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8877694 Capg capping actin protein, gelsolin like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8877694 Capg capping actin protein, gelsolin like gene DOID:9119 acute myeloid leukemia ISO RGD:1323330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 8877719 Cdc23 cell division cycle 23 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1312484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8877719 Cdc23 cell division cycle 23 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312484 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8877719 Cdc23 cell division cycle 23 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1312484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8877719 Cdc23 cell division cycle 23 gene DOID:5223 infertility ISO RGD:1312485 D RGD:9068941 20240314 MouseDO 8877719 Cdc23 cell division cycle 23 gene DOID:630 genetic disease ISO RGD:1312484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877719 Cdc23 cell division cycle 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8877719 Cdc23 cell division cycle 23 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312484 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8877743 Edem3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1353394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8877743 Edem3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:630 genetic disease ISO RGD:1353394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877743 Edem3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9005531 Congenital Disorder of Glycosylation Type IIv ISO RGD:1353394 D RGD:7240710 20210908 OMIM 8877743 Edem3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9005531 Congenital Disorder of Glycosylation Type IIv ISO RGD:1353394 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 2v PMID:25741868|PMID:34143952 8877743 Edem3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9007661 Dwarfism ISO RGD:1353394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8877743 Edem3 ER degradation enhancing alpha-mannosidase like protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8877772 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8877772 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8877772 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8877772 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8877772 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:5812 MHC class II deficiency ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8877772 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:630 genetic disease ISO RGD:1318338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877772 Pglyrp4 peptidoglycan recognition protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8877786 Thoc5 THO complex subunit 5 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1349222 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8877786 Thoc5 THO complex subunit 5 gene DOID:2355 anemia ISO RGD:1312750 D RGD:9068941 20200609 RGD PMID:20051105|REF_RGD_ID:2317224 8877786 Thoc5 THO complex subunit 5 gene DOID:3459 breast carcinoma ISO RGD:1349222 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.1139C>A, c.1495G>A (human) PMID:16959974|REF_RGD_ID:2317225 8877786 Thoc5 THO complex subunit 5 gene DOID:615 leukopenia ISO RGD:1312750 D RGD:9068941 20200609 RGD PMID:20051105|REF_RGD_ID:2317224 8877786 Thoc5 THO complex subunit 5 gene DOID:630 genetic disease ISO RGD:1349222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877786 Thoc5 THO complex subunit 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8877832 Gpn1 GPN-loop GTPase 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8877832 Gpn1 GPN-loop GTPase 1 gene DOID:630 genetic disease ISO RGD:1319547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877832 Gpn1 GPN-loop GTPase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1319547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 8877860 Brd7 bromodomain containing 7 gene DOID:0080199 colorectal carcinoma severity ISO RGD:1320478 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:colon: PMID:23215825|REF_RGD_ID:9586444 8877860 Brd7 bromodomain containing 7 gene DOID:0111122 nephronophthisis 14 ISO RGD:1320478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 8877860 Brd7 bromodomain containing 7 gene DOID:2152 ovary epithelial cancer severity ISO RGD:1320478 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:24198243|REF_RGD_ID:9586445 8877860 Brd7 bromodomain containing 7 gene DOID:3068 glioblastoma ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24404152|REF_RGD_ID:9586441 8877860 Brd7 bromodomain containing 7 gene DOID:3069 malignant astrocytoma severity ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24404152|REF_RGD_ID:9586441 8877860 Brd7 bromodomain containing 7 gene DOID:3070 high grade glioma ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24404152|REF_RGD_ID:9586441 8877860 Brd7 bromodomain containing 7 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22008115|REF_RGD_ID:9586442 8877860 Brd7 bromodomain containing 7 gene DOID:630 genetic disease ISO RGD:1320478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877860 Brd7 bromodomain containing 7 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:1320478 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22008115|REF_RGD_ID:9586442 8877860 Brd7 bromodomain containing 7 gene DOID:9008863 Malignant Granular Cell Tumor ISO RGD:1320478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: malignant granular cell tumor 8877860 Brd7 bromodomain containing 7 gene DOID:9119 acute myeloid leukemia ISO RGD:1320478 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow: PMID:18772500|REF_RGD_ID:9586443 8877860 Brd7 bromodomain containing 7 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1320478 D RGD:9068941 20200609 RGD DNA:haplotype:cds:737A>G,495C>T(human) PMID:18772500|REF_RGD_ID:9586443 8877882 Tmprss5 transmembrane serine protease 5 gene DOID:1059 intellectual disability ISO RGD:732836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8877882 Tmprss5 transmembrane serine protease 5 gene DOID:630 genetic disease ISO RGD:732836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877882 Tmprss5 transmembrane serine protease 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8877899 Rptn repetin gene DOID:0111940 immunodeficiency 42 ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8877899 Rptn repetin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8877899 Rptn repetin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8877899 Rptn repetin gene DOID:1540 parathyroid carcinoma ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8877899 Rptn repetin gene DOID:5812 MHC class II deficiency ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8877899 Rptn repetin gene DOID:630 genetic disease ISO RGD:1605586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877899 Rptn repetin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8877928 Bnip2 BCL2 interacting protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1319009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8877928 Bnip2 BCL2 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1319009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877928 Bnip2 BCL2 interacting protein 2 gene DOID:9256 colorectal cancer ISO RGD:1319009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8877944 Triap1 TP53 regulated inhibitor of apoptosis 1 gene DOID:630 genetic disease ISO RGD:1602327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8877950 Ilvbl ilvB acetolactate synthase like gene DOID:630 genetic disease ISO RGD:1317496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878023 Nol3 nucleolar protein 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1352407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8878023 Nol3 nucleolar protein 3 gene DOID:0080600 COVID-19 ISO RGD:1352407 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8878023 Nol3 nucleolar protein 3 gene DOID:0110255 cataract 5 multiple types ISO RGD:1352407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8878023 Nol3 nucleolar protein 3 gene DOID:630 genetic disease ISO RGD:1352407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8878023 Nol3 nucleolar protein 3 gene DOID:700 mitochondrial metabolism disease ISO RGD:1352407 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19139834 8878023 Nol3 nucleolar protein 3 gene DOID:9009015 Familial Myoclonus 1 ISO RGD:1352407 D RGD:7240710 20180130 OMIM 8878023 Nol3 nucleolar protein 3 gene DOID:9009015 Familial Myoclonus 1 ISO RGD:1352407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myoclonus, familial, 1 PMID:22926851|PMID:25741868 8878040 Tfdp2 transcription factor Dp-2 gene DOID:0080600 COVID-19 ISO RGD:1314075 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8878040 Tfdp2 transcription factor Dp-2 gene DOID:1790 malignant mesothelioma ISO RGD:1314075 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8878040 Tfdp2 transcription factor Dp-2 gene DOID:630 genetic disease ISO RGD:1314075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878071 Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:14671 multiple intestinal atresia ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome | ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:23830146|PMID:24292712|PMID:25741868|PMID:28492532 8878071 Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:1588 thrombocytopenia ISO RGD:1350244 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 8878071 Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:2213 hemorrhagic disease ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8878071 Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:224 transient cerebral ischemia ISO RGD:628690 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17610559|REF_RGD_ID:11062141 8878071 Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:3883 Lynch syndrome ISO RGD:1350244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8878071 Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:627 severe combined immunodeficiency ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 8878071 Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:630 genetic disease ISO RGD:1350244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878071 Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:9000717 Familial Multiple Coagulation Factor Deficiency I ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FMFD I PMID:12717434|PMID:13229969|PMID:25741868|PMID:31064749 8878071 Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:9007584 Von Willebrand Factor, Deficiency ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Reduced von Willebrand factor activity PMID:32581362 8878071 Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:9008839 Factor V and Factor VIII, Combined Deficiency of, 2 ISO RGD:1350244 D RGD:7240710 20180130 OMIM 8878071 Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit gene DOID:9008839 Factor V and Factor VIII, Combined Deficiency of, 2 ISO RGD:1350244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2 PMID:12717434|PMID:13229969|PMID:18391077|PMID:25741868|PMID:31064749 8878086 Metap1d methionyl aminopeptidase type 1D, mitochondrial gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1605558 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8878086 Metap1d methionyl aminopeptidase type 1D, mitochondrial gene DOID:630 genetic disease ISO RGD:1605558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878111 Mst1 macrophage stimulating 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8878111 Mst1 macrophage stimulating 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8878111 Mst1 macrophage stimulating 1 gene DOID:14268 sclerosing cholangitis ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151127 8878111 Mst1 macrophage stimulating 1 gene DOID:630 genetic disease ISO RGD:736655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878111 Mst1 macrophage stimulating 1 gene DOID:8577 ulcerative colitis ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406|PMID:20228799 8878111 Mst1 macrophage stimulating 1 gene DOID:8778 Crohn's disease ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406 8878111 Mst1 macrophage stimulating 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 8878111 Mst1 macrophage stimulating 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:736655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8878111 Mst1 macrophage stimulating 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8878111 Mst1 macrophage stimulating 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 8878194 Taf8 TATA-box binding protein associated factor 8 gene DOID:0050444 infantile Refsum disease ISO RGD:1318181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8878194 Taf8 TATA-box binding protein associated factor 8 gene DOID:10907 microcephaly ISO RGD:1318181 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:29648665|PMID:35759269 8878194 Taf8 TATA-box binding protein associated factor 8 gene DOID:630 genetic disease ISO RGD:1318181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878194 Taf8 TATA-box binding protein associated factor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318181 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 8878194 Taf8 TATA-box binding protein associated factor 8 gene DOID:9007324 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY ISO RGD:1318181 D RGD:7240710 20221221 OMIM 8878194 Taf8 TATA-box binding protein associated factor 8 gene DOID:9007324 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY ISO RGD:1318181 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy PMID:25741868|PMID:29648665|PMID:35759269 8878194 Taf8 TATA-box binding protein associated factor 8 gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:1318181 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Partial agenesis of corpus callosum PMID:25741868|PMID:29648665|PMID:35759269 8878194 Taf8 TATA-box binding protein associated factor 8 gene DOID:905 Zellweger syndrome ISO RGD:1318181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8878216 Arl2 ADP ribosylation factor like GTPase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8878216 Arl2 ADP ribosylation factor like GTPase 2 gene DOID:1059 intellectual disability ISO RGD:735885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8878216 Arl2 ADP ribosylation factor like GTPase 2 gene DOID:1909 melanoma ISO RGD:735885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8878216 Arl2 ADP ribosylation factor like GTPase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8878216 Arl2 ADP ribosylation factor like GTPase 2 gene DOID:2746 glycogen storage disease V ISO RGD:735885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8878216 Arl2 ADP ribosylation factor like GTPase 2 gene DOID:3070 high grade glioma ISO RGD:735885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8878216 Arl2 ADP ribosylation factor like GTPase 2 gene DOID:630 genetic disease ISO RGD:735885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878216 Arl2 ADP ribosylation factor like GTPase 2 gene DOID:9008938 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 ISO RGD:735885 D RGD:7240710 20201111 OMIM 8878216 Arl2 ADP ribosylation factor like GTPase 2 gene DOID:9008938 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 ISO RGD:735885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 PMID:30945270 8878242 Tfb1m transcription factor B1, mitochondrial gene DOID:630 genetic disease ISO RGD:1351892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878256 Slc6a16 solute carrier family 6 member 16 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8878256 Slc6a16 solute carrier family 6 member 16 gene DOID:630 genetic disease ISO RGD:1353315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878281 Lypd5 LY6/PLAUR domain containing 5 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1604488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8878281 Lypd5 LY6/PLAUR domain containing 5 gene DOID:5419 schizophrenia ISO RGD:1604488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8878281 Lypd5 LY6/PLAUR domain containing 5 gene DOID:630 genetic disease ISO RGD:1604488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878298 Cygb cytoglobin gene DOID:0050855 renal fibrosis treatment ISO RGD:69415 D RGD:9068941 20200609 RGD PMID:20719976|REF_RGD_ID:9685174 8878298 Cygb cytoglobin gene DOID:0110405 retinitis pigmentosa 36 ISO RGD:1345183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 36 PMID:16938425|PMID:20507925|PMID:23661369|PMID:23805042|PMID:24992209|PMID:25741868|PMID:28181551|PMID:28492532|PMID:29785639 8878298 Cygb cytoglobin gene DOID:10584 retinitis pigmentosa ISO RGD:1345183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:16938425|PMID:17576681|PMID:20507925|PMID:23661369|PMID:23805042|PMID:25741868|PMID:26806561|PMID:28181551|PMID:28492532|PMID:29785639|PMID:9536098 8878298 Cygb cytoglobin gene DOID:10584 retinitis pigmentosa ISO RGD:1345183 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:16938425|PMID:17576681|PMID:20507925|PMID:23661369|PMID:23805042|PMID:25741868|PMID:26806561|PMID:28181551|PMID:28492532|PMID:29785639|PMID:32036094|PMID:36909829|PMID:9536098 8878298 Cygb cytoglobin gene DOID:12236 primary biliary cholangitis ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8878298 Cygb cytoglobin gene DOID:13619 extrahepatic cholestasis ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8878298 Cygb cytoglobin gene DOID:5082 liver cirrhosis ISO RGD:69415 D RGD:9068941 20200609 RGD PMID:11320098|PMID:16581302|REF_RGD_ID:68672|REF_RGD_ID:9685176 8878298 Cygb cytoglobin gene DOID:557 kidney disease ISO RGD:69415 D RGD:9068941 20200609 RGD PMID:14647402|REF_RGD_ID:9685173 8878298 Cygb cytoglobin gene DOID:630 genetic disease ISO RGD:1345183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8878298 Cygb cytoglobin gene DOID:8501 fundus dystrophy ISO RGD:1345183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16938425|PMID:20507925|PMID:23805042|PMID:25741868|PMID:28181551|PMID:28492532 8878298 Cygb cytoglobin gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16825958 8878298 Cygb cytoglobin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16581302 8878298 Cygb cytoglobin gene DOID:9004250 Hepatic Insufficiency ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8878298 Cygb cytoglobin gene DOID:9005369 Hepatomegaly ISO RGD:1345183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8878298 Cygb cytoglobin gene DOID:9006190 Chronic Pancreatitis ISO RGD:69415 D RGD:9068941 20200609 RGD PMID:14647402|REF_RGD_ID:9685173 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:2394 ovarian cancer ISO RGD:1317052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:28849184 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:4624 Ollier disease ISO RGD:1317052 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:25741868|PMID:28492532 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1317052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10679937|PMID:19810120|PMID:21520333|PMID:25741868|PMID:28492532|PMID:32293802 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:687 hepatoblastoma ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:9003050 Multiple Exostoses Type I ISO RGD:1317052 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I PMID:23262345|PMID:24728327|PMID:25741868|PMID:28492532 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:9003693 Multiple Exostoses Type II ISO RGD:1317052 D RGD:7240710 20180130 OMIM 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:9003693 Multiple Exostoses Type II ISO RGD:1317052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 PMID:10480354|PMID:10671060|PMID:10679937|PMID:10713884|PMID:10750558|PMID:11169766|PMID:11170095|PMID:11432960|PMID:11668521|PMID:12239711|PMID:12490068|PMID:15221792|PMID:15586175|PMID:15796962|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:17301954|PMID:17576681|PMID:17589361|PMID:18165274|PMID:18373409|PMID:18666861|PMID:18976157|PMID:19309273|PMID:19344451|PMID:19504431|PMID:19810120|PMID:19839753|PMID:20425833|PMID:21520333|PMID:21703028|PMID:22258776|PMID:22382802|PMID:22820392|PMID:23262345|PMID:23439489|PMID:23629877|PMID:24496678|PMID:24532482|PMID:24728327|PMID:24728384|PMID:25230886|PMID:25449079|PMID:25468659|PMID:25591329|PMID:25741868|PMID:25744876|PMID:26246518|PMID:26402641|PMID:26961984|PMID:28166811|PMID:28492532|PMID:28690282|PMID:28849184|PMID:29126381|PMID:29529714|PMID:29625052|PMID:30075207|PMID:30288735|PMID:30334991|PMID:30806661|PMID:30997052|PMID:31030431|PMID:31096510|PMID:32293802|PMID:34070849|PMID:34092239|PMID:8894688|PMID:9326317|PMID:9463333|PMID:9536098 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:9005285 Osteochondromatosis ISO RGD:1317052 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:25741868|PMID:28492532 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10679937|PMID:11432960|PMID:17589361|PMID:19344451|PMID:19810120|PMID:24496678|PMID:25741868|PMID:28492532|PMID:8894688|PMID:9463333 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:9009204 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME ISO RGD:1317052 D RGD:7240710 20180822 OMIM 8878308 Ext2 exostosin glycosyltransferase 2 gene DOID:9009204 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME ISO RGD:1317052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome PMID:10679937|PMID:10713884|PMID:10750558|PMID:11432960|PMID:16199547|PMID:16283885|PMID:17041877|PMID:19344451|PMID:19810120|PMID:23439489|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30075207|PMID:30288735|PMID:30997052|PMID:34092239|PMID:9326317 8878333 Lrmda leucine rich melanocyte differentiation associated gene DOID:0060224 atrial fibrillation ISO RGD:1321229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8878333 Lrmda leucine rich melanocyte differentiation associated gene DOID:0070100 oculocutaneous albinism type VII ISO RGD:1321229 D RGD:7240710 20180130 OMIM 8878333 Lrmda leucine rich melanocyte differentiation associated gene DOID:0070100 oculocutaneous albinism type VII ISO RGD:1321229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 7 PMID:23395477|PMID:25741868|PMID:26818737|PMID:28492532|PMID:29345414|PMID:31694064 8878333 Lrmda leucine rich melanocyte differentiation associated gene DOID:303 substance-related disorder ISO RGD:1321229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8878333 Lrmda leucine rich melanocyte differentiation associated gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1321229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 8878359 Hsd17b12 hydroxysteroid 17-beta dehydrogenase 12 gene DOID:1059 intellectual disability ISO RGD:1346748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8878359 Hsd17b12 hydroxysteroid 17-beta dehydrogenase 12 gene DOID:630 genetic disease ISO RGD:1346748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878375 Dlgap5 DLG associated protein 5 gene DOID:0080600 COVID-19 ISO RGD:1322602 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8878375 Dlgap5 DLG associated protein 5 gene DOID:630 genetic disease ISO RGD:1322602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878375 Dlgap5 DLG associated protein 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1322602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8878409 Best3 bestrophin 3 gene DOID:0060224 atrial fibrillation ISO RGD:1313470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8878409 Best3 bestrophin 3 gene DOID:0080685 aortic dissection ISO RGD:1550212 D RGD:9068941 20231019 MouseDO 8878409 Best3 bestrophin 3 gene DOID:630 genetic disease ISO RGD:1313470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878434 Gdi2 GDP dissociation inhibitor 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1346683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8878434 Gdi2 GDP dissociation inhibitor 2 gene DOID:14250 Down syndrome ISO RGD:1346683 D RGD:9068941 20200609 RGD protein:decreased expression:brain (human) PMID:11771757|REF_RGD_ID:13208830 8878434 Gdi2 GDP dissociation inhibitor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1346683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8878434 Gdi2 GDP dissociation inhibitor 2 gene DOID:5419 schizophrenia ISO RGD:1346683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8878434 Gdi2 GDP dissociation inhibitor 2 gene DOID:630 genetic disease ISO RGD:1346683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1313623 D RGD:9068941 20240118 RGD DNA:SNP,haplotype:exon:rs1800497(human) PMID:23443985|REF_RGD_ID:401959307 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1313623 D RGD:9068941 20240118 RGD DNA:polymorphism:exon: PMID:28574012|REF_RGD_ID:401959222 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:0050742 nicotine dependence ISO RGD:1313623 D RGD:9068941 20240118 RGD DNA:haplotype: :multiple PMID:25273375|REF_RGD_ID:401959295 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1313623 D RGD:9068941 20240118 RGD DNA:SNP:exon:rs2734849(human) PMID:18354387|REF_RGD_ID:401959232 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1313623 D RGD:9068941 20240118 RGD DNA:polymorphism:exon: PMID:28574012|REF_RGD_ID:401959222 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1313623 D RGD:9068941 20240120 RGD DNA:SNP, haplotype:exon:rs1800497(human) PMID:22382052|REF_RGD_ID:401959315 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1313623 D RGD:9068941 20240125 RGD DNA:SNPs,haplotype:introns,exons:multiple PMID:17085484|REF_RGD_ID:401959319 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:0050742 nicotine dependence treatment ISO RGD:1313623 D RGD:9068941 20240125 RGD associated with depressive disorder;DNA:SNP:exon:rs1800497(human) PMID:21540761|REF_RGD_ID:401959399 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:0060131 alexithymia ISO RGD:1313623 D RGD:9068941 20240125 RGD associated with Binge Drinking;DNA:SNP:exon:rs1800497(human) PMID:22728571|REF_RGD_ID:401959322 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:0080832 mild cognitive impairment susceptibility ISO RGD:1313623 D RGD:9068941 20240125 RGD associated with pathological gambling; DNA:SNP:exon:rs1800497(human) PMID:25237117|REF_RGD_ID:401959397 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1313623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:11206 opioid abuse susceptibility ISO RGD:1313623 D RGD:9068941 20240118 RGD associated with phlegm syndrome;DNA:polymorphism:exon: PMID:26138154|REF_RGD_ID:11065747 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:1574 alcohol use disorder ISO RGD:737102 D RGD:9068941 20240113 RGD DNA:polymorphism: :rs1800497(human) PMID:32889058|REF_RGD_ID:401940151 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:1574 alcohol use disorder severity ISO RGD:1313623 D RGD:9068941 20240118 RGD DNA:SNP,haplotype: :rs11604671, rs4938015 (human) PMID:21936764|REF_RGD_ID:401959296 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:251 alcohol-induced mental disorder ISO RGD:1313623 D RGD:9068941 20240125 RGD DNA:SNP:exon:rs1800497(human) PMID:18669994|REF_RGD_ID:401959336 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:2559 opiate dependence susceptibility ISO RGD:1313623 D RGD:9068941 20240118 RGD DNA:SNP,haplotype:exon:rs1800497(human) PMID:19373123|REF_RGD_ID:401959309 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:630 genetic disease ISO RGD:1313623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:9001310 Tobacco Use Disorder onset ISO RGD:1313623 D RGD:9068941 20240118 RGD DNA:SNP,haplotype: :rs11604671, rs4938015 (human) PMID:21936764|REF_RGD_ID:401959296 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1313623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:9005466 Language Development Disorders ISO RGD:1313623 D RGD:9068941 20240125 RGD DNA:SNPs,haplotype::rs11604671, rs2734849,rs1800497(human) PMID:23691092|REF_RGD_ID:401959324 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:93 language disorder ISO RGD:1313623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23691092 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:9974 drug dependence ISO RGD:1313623 D RGD:9068941 20240125 RGD associated with alcohol dependence;DNA:haplotype:exons: PMID:18828801|REF_RGD_ID:401959320 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:9975 cocaine dependence treatment ISO RGD:1313623 D RGD:9068941 20240113 RGD DNA:SNP: :rs1800497(human) PMID:23635803|REF_RGD_ID:401959203 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:9976 heroin dependence ISO RGD:1313623 D RGD:9068941 20240113 RGD DNA:SNPs, haplotypes:intron, 3'flanking:rs11214598, rs2859545(human) PMID:29550268|REF_RGD_ID:401959205 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:9976 heroin dependence onset ISO RGD:1313623 D RGD:9068941 20240113 RGD DNA:SNPS:exon:rs17115439, rs7118900, rs1800497 (human) PMID:28854834|REF_RGD_ID:401959202 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:9976 heroin dependence susceptibility ISO RGD:1313623 D RGD:9068941 20240118 RGD DNA:SNP:exon:rs1800497(human) PMID:23840506|REF_RGD_ID:401959223 8878455 Ankk1 ankyrin repeat and kinase domain containing 1 gene DOID:9976 heroin dependence susceptibility ISO RGD:1313623 D RGD:9068941 20240118 RGD DNA:SNPs:5'UTR,exon:rs877138, rs4938013(human) PMID:23303482|REF_RGD_ID:401959304 8878467 LOC102027885 olfactory receptor 5I1 gene DOID:1059 intellectual disability ISO RGD:1351255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8878467 LOC102027885 olfactory receptor 5I1 gene DOID:630 genetic disease ISO RGD:1351255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878486 Pias3 protein inhibitor of activated STAT 3 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1344818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 8878486 Pias3 protein inhibitor of activated STAT 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1344818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8878486 Pias3 protein inhibitor of activated STAT 3 gene DOID:5419 schizophrenia ISO RGD:1344818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8878486 Pias3 protein inhibitor of activated STAT 3 gene DOID:630 genetic disease ISO RGD:1344818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878486 Pias3 protein inhibitor of activated STAT 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 8878486 Pias3 protein inhibitor of activated STAT 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8878516 Kctd18 potassium channel tetramerization domain containing 18 gene DOID:630 genetic disease ISO RGD:1346294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878516 Kctd18 potassium channel tetramerization domain containing 18 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1346294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8878516 Kctd18 potassium channel tetramerization domain containing 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8878516 Kctd18 potassium channel tetramerization domain containing 18 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1346294 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8878547 Mdm2 MDM2 proto-oncogene gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1313299 D RGD:9068941 20200609 RGD protein:increased expression:biliary epithelium (human) PMID:16505435|REF_RGD_ID:2317415 8878547 Mdm2 MDM2 proto-oncogene gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:SNP:cds:309T>G(rs2279744)(human) PMID:22668018|REF_RGD_ID:11073731 8878547 Mdm2 MDM2 proto-oncogene gene DOID:0060071 pre-malignant neoplasm ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14555611 8878547 Mdm2 MDM2 proto-oncogene gene DOID:10923 sickle cell anemia ISO RGD:1313300 D RGD:9068941 20200609 RGD PMID:21085184|REF_RGD_ID:10412315 8878547 Mdm2 MDM2 proto-oncogene gene DOID:11054 urinary bladder cancer severity ISO RGD:1313299 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder PMID:27798881|REF_RGD_ID:13602098 8878547 Mdm2 MDM2 proto-oncogene gene DOID:1115 sarcoma ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:1614537|REF_RGD_ID:2317412 8878547 Mdm2 MDM2 proto-oncogene gene DOID:12336 male infertility ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22773013 8878547 Mdm2 MDM2 proto-oncogene gene DOID:13677 SAPHO syndrome ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19779722 8878547 Mdm2 MDM2 proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:1313299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to PMID:15550242|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:28492532|PMID:9536098 8878547 Mdm2 MDM2 proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:1313299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to PMID:15550242|PMID:16199547|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:23653682|PMID:28492532|PMID:9536098 8878547 Mdm2 MDM2 proto-oncogene gene DOID:1612 breast cancer ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:breast tumor (rat) PMID:15844214|REF_RGD_ID:2293626 8878547 Mdm2 MDM2 proto-oncogene gene DOID:1697 ichthyosis ISO RGD:1313299 D RGD:9068941 20200609 RGD PMID:24005053|REF_RGD_ID:10412066 8878547 Mdm2 MDM2 proto-oncogene gene DOID:1697 ichthyosis treatment ISO RGD:1305332 D RGD:9068941 20200609 RGD PMID:24005053|REF_RGD_ID:10412066 8878547 Mdm2 MDM2 proto-oncogene gene DOID:1909 melanoma ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17210701 8878547 Mdm2 MDM2 proto-oncogene gene DOID:2055 post-traumatic stress disorder ISO RGD:1305332 D RGD:9068941 20200609 RGD PMID:23174211|REF_RGD_ID:10412309 8878547 Mdm2 MDM2 proto-oncogene gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305332 D RGD:9068941 20200609 RGD PMID:24334056|REF_RGD_ID:10412310 8878547 Mdm2 MDM2 proto-oncogene gene DOID:3068 glioblastoma ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:amplication PMID:23796897|REF_RGD_ID:13702089 8878547 Mdm2 MDM2 proto-oncogene gene DOID:3587 pancreatic ductal carcinoma onset ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:snp:promoter, intron:IVS1+309T>G (human) PMID:19752772|REF_RGD_ID:2317414 8878547 Mdm2 MDM2 proto-oncogene gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1313299 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:15810085|REF_RGD_ID:2317416 8878547 Mdm2 MDM2 proto-oncogene gene DOID:3669 intermittent claudication treatment ISO RGD:1305332 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 8878547 Mdm2 MDM2 proto-oncogene gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19941079|PMID:21268124 8878547 Mdm2 MDM2 proto-oncogene gene DOID:409 liver disease onset ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:Enzyme altered focus (rat) PMID:14555611|REF_RGD_ID:2317409 8878547 Mdm2 MDM2 proto-oncogene gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1313299 D RGD:9068941 20200609 RGD protein:increased expression:intrahepatic bile duct (human) PMID:15619210|REF_RGD_ID:2317417 8878547 Mdm2 MDM2 proto-oncogene gene DOID:4989 pancreatitis ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:19850968|REF_RGD_ID:2317361 8878547 Mdm2 MDM2 proto-oncogene gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 8878547 Mdm2 MDM2 proto-oncogene gene DOID:630 genetic disease ISO RGD:1313299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8878547 Mdm2 MDM2 proto-oncogene gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:transversion:promoter:g.-309T>G (human) PMID:20019189|REF_RGD_ID:2317357 8878547 Mdm2 MDM2 proto-oncogene gene DOID:8552 chronic myeloid leukemia onset ISO RGD:1313299 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2279744(human) PMID:23818300|REF_RGD_ID:13703044 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9000039 Spinal Cord Injuries ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23595775|REF_RGD_ID:10412063 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9000217 Stomach Neoplasms ISO RGD:1313299 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:31945315 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9000998 Brain Injuries ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:brain cortex (rat) PMID:15165363|REF_RGD_ID:2317397 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9002231 Fetal Growth Retardation ISO RGD:1305332 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebrum (rat) PMID:15563574|REF_RGD_ID:2317395 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20875869 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9002395 Hypothermia ISO RGD:1305332 D RGD:9068941 20200609 RGD associated with Reperfusion Injury; protein:increased expression:hippocampus (rat) PMID:15777295|REF_RGD_ID:2317393 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9002644 Premature Aging ISO RGD:1313300 D RGD:9068941 20200609 RGD PMID:23766372|REF_RGD_ID:10412052 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:1313299 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) PMID:21706156|REF_RGD_ID:11073725 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9003292 Intracranial Subdural Hematoma treatment ISO RGD:1305332 D RGD:9068941 20230128 RGD PMID:34334113|REF_RGD_ID:155882538 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9004277 Lessel-Kubisch Syndrome ISO RGD:1313299 D RGD:7240710 20240313 OMIM 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9004277 Lessel-Kubisch Syndrome ISO RGD:1313299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lessel-kubisch syndrome PMID:28846075 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:1313299 D RGD:9068941 20200609 RGD associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) PMID:24732641|REF_RGD_ID:11073715 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:1313300 D RGD:9068941 20200609 RGD PMID:21498419|REF_RGD_ID:10412065 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased degradation:myocardium PMID:23530877|REF_RGD_ID:10412313 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1313299 D RGD:7240710 20240313 OMIM 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart ventricle (rat) PMID:14644432|REF_RGD_ID:2317401 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9008939 Breast Neoplasms ISO RGD:1313299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26229107 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1313299 D RGD:9068941 20200609 RGD PMID:11064355|REF_RGD_ID:11251749 8878547 Mdm2 MDM2 proto-oncogene gene DOID:9286 priapism ISO RGD:1305332 D RGD:9068941 20200609 RGD protein:increased expression:corpus cavernosum PMID:21085184|REF_RGD_ID:10412315 8878585 Loricrin loricrin cornified envelope precursor protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8878585 Loricrin loricrin cornified envelope precursor protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8878585 Loricrin loricrin cornified envelope precursor protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347914 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8878585 Loricrin loricrin cornified envelope precursor protein gene DOID:1540 parathyroid carcinoma ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8878585 Loricrin loricrin cornified envelope precursor protein gene DOID:1749 squamous cell carcinoma ISO RGD:1347914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8878585 Loricrin loricrin cornified envelope precursor protein gene DOID:5812 MHC class II deficiency ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8878585 Loricrin loricrin cornified envelope precursor protein gene DOID:630 genetic disease ISO RGD:1347914 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878585 Loricrin loricrin cornified envelope precursor protein gene DOID:9001125 Vohwinkel Syndrome, Variant Form ISO RGD:1347914 D RGD:7240710 20180130 OMIM 8878585 Loricrin loricrin cornified envelope precursor protein gene DOID:9001125 Vohwinkel Syndrome, Variant Form ISO RGD:1347914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Loricrin keratoderma PMID:10798362|PMID:11038186|PMID:11121146|PMID:11703298|PMID:25741868|PMID:31595526|PMID:8673107|PMID:9326323|PMID:9326398 8878585 Loricrin loricrin cornified envelope precursor protein gene DOID:9004464 Skin Neoplasms ISO RGD:1347914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8878585 Loricrin loricrin cornified envelope precursor protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8878598 Me3 malic enzyme 3 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1322332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 8878598 Me3 malic enzyme 3 gene DOID:1059 intellectual disability ISO RGD:1322332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8878598 Me3 malic enzyme 3 gene DOID:630 genetic disease ISO RGD:1322332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878633 Nlk nemo like kinase gene DOID:5844 myocardial infarction ISO RGD:1561602 D RGD:9068941 20230330 RGD mRNA, protein:decreased expression:heart PMID:26861724|REF_RGD_ID:242905213 8878633 Nlk nemo like kinase gene DOID:630 genetic disease ISO RGD:1321854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878633 Nlk nemo like kinase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1561602 D RGD:9068941 20200609 RGD protein:increased expression:grey matter: PMID:24395089|REF_RGD_ID:12791278 8878633 Nlk nemo like kinase gene DOID:9000438 Subarachnoid Hemorrhage disease_progression ISO RGD:1561602 D RGD:9068941 20200609 RGD PMID:23325309|REF_RGD_ID:12791279 8878648 LOC102009721 chromosome unknown open reading frame, human C6orf62 gene DOID:630 genetic disease ISO RGD:1347069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878660 COL6A3 collagen type VI alpha 3 chain gene DOID:13223 uterine fibroid ISO RGD:1318630 D RGD:9068941 20231102 RGD mRNA:increased expression:uterus (human) PMID:23818951|REF_RGD_ID:401851920 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:0050557 congenital muscular dystrophy ISO RGD:1318630 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:28492532 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1318631 D RGD:9068941 20230629 MouseDO OMIM:254090 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30487145|PMID:30564623|PMID:31731261|PMID:33964895|PMID:9536098 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1318630 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19344236|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31230720|PMID:31265121|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:35487415|PMID:7695699|PMID:8218237|PMID:9536098 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:0090050 dystonia 27 ISO RGD:1318630 D RGD:7240710 20180130 OMIM 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:0090050 dystonia 27 ISO RGD:1318630 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dystonia 27 PMID:15689448|PMID:18378883|PMID:18414213|PMID:20981092|PMID:23572247|PMID:24038877|PMID:25741868|PMID:26004199|PMID:26467025|PMID:26872670|PMID:28492532|PMID:30564623|PMID:30687093|PMID:31265121|PMID:33964895 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1318630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:0111197 autosomal recessive distal hereditary motor neuronopathy ISO RGD:1318630 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive PMID:17576681|PMID:28492532|PMID:9536098 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1318630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1318630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:10534 stomach cancer severity ISO RGD:1318630 D RGD:9068941 20231104 RGD mRNA, protein:increased expression:stomach (human) PMID:37483811|REF_RGD_ID:401854242 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:10534 stomach cancer severity ISO RGD:1318630 D RGD:9068941 20231109 RGD mRNA:increased expression:stomach (human) PMID:33470887|REF_RGD_ID:401854251 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:1059 intellectual disability ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:1070 primary open angle glaucoma ISO RGD:1318630 D RGD:9068941 20231026 RGD DNA:SNP:CDS:D563, rs112913396 (human) PMID:34143713|REF_RGD_ID:401851036 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:10763 hypertension ISO RGD:1318630 D RGD:9068941 20231028 RGD DNA:SNP:CDS:E1386K (rs146092501) (human) PMID:30226566|REF_RGD_ID:401851058 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:11054 urinary bladder cancer ISO RGD:1318630 D RGD:9068941 20231109 RGD mRNA, protein:increased expression:bladder (human) PMID:30066698|REF_RGD_ID:401900123 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1318630 D RGD:9068941 20231102 RGD mRNA:increased expression:retina (human) PMID:35692390|REF_RGD_ID:401851065 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:1318630 D RGD:9068941 20231102 RGD protein:increased expression:aorta (human) PMID:29137225|REF_RGD_ID:401851087 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:2033 communication disorder ISO RGD:1318630 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:2154 nephroblastoma ISO RGD:1318630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:219 colon cancer ISO RGD:1318630 D RGD:9068941 20231109 RGD protein:increased expression:serum (human) PMID:32245981|REF_RGD_ID:401900121 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:3652 Leigh disease ISO RGD:1318630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh syndrome 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:423 myopathy ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy PMID:18414213|PMID:25741868|PMID:28492532 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:543 dystonia ISO RGD:1318630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:5844 myocardial infarction ISO RGD:1318630 D RGD:9068941 20231028 RGD DNA:SNP:CDS:E1386K (rs146092501) (human) PMID:30226566|REF_RGD_ID:401851058 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:630 genetic disease ISO RGD:1318630 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15689448|PMID:16199547|PMID:18366090|PMID:19344236|PMID:20976770|PMID:21280092|PMID:24038877|PMID:25741868|PMID:26467025|PMID:27854213|PMID:28492532|PMID:28688748|PMID:34418069|PMID:7695699|PMID:8218237|PMID:9724608 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:767 muscular atrophy ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868|PMID:28492532 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:784 chronic kidney disease ISO RGD:1318630 D RGD:9068941 20231028 RGD DNA:SNP:CDS:E1386K (rs146092501) (human) PMID:30226566|REF_RGD_ID:401851058 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:8577 ulcerative colitis ISO RGD:1318630 D RGD:9068941 20231109 RGD protein:increased expression:serum (human) PMID:32245981|REF_RGD_ID:401900121 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:8778 Crohn's disease ISO RGD:1318630 D RGD:9068941 20231109 RGD protein:increased expression:serum (human) PMID:32245981|REF_RGD_ID:401900121 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9000534 Ullrich Congenital Muscular Dystrophy 1 ISO RGD:1318630 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant PMID:11992252|PMID:15563506|PMID:15689448|PMID:16199547|PMID:17576681|PMID:17886299|PMID:18366090|PMID:18378883|PMID:18414213|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:23040494|PMID:23572247|PMID:24038877|PMID:24271325|PMID:24518369|PMID:25326635|PMID:25635128|PMID:25741868|PMID:26004199|PMID:26436962|PMID:26467025|PMID:28492532|PMID:29419890|PMID:29970176|PMID:30564623|PMID:31044083|PMID:32528171|PMID:34167565|PMID:34720847|PMID:35723357|PMID:7695699|PMID:8218237|PMID:9536098 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:1318630 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:11992252|PMID:15563506|PMID:15689448|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22995991|PMID:23040494|PMID:23175733|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24332716|PMID:24518369|PMID:24907562|PMID:25211533|PMID:25214167|PMID:25224718|PMID:25326635|PMID:25380242|PMID:25535305|PMID:25635128|PMID:25741868|PMID:25987458|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26436962|PMID:26467025|PMID:26752647|PMID:26872670|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28660205|PMID:28688748|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29894794|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31044083|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31265121|PMID:32037012|PMID:32065942|PMID:32403337|PMID:32448721|PMID:32528171|PMID:3352914|PMID:33596003|PMID:33749658|PMID:33964895|PMID:34167565|PMID:35487415|PMID:7695699|PMID:8218237|PMID:8817344|PMID:9536084|PMID:9536098|PMID:9724608 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1318630 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1318630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9004866 Ataxia ISO RGD:1318630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensory ataxia PMID:25741868|PMID:28492532 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9005532 Muscle Weakness ISO RGD:1318630 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:28492532 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9005603 Muscle Hypotonia ISO RGD:1318630 D RGD:9068941 20231026 RGD Associated with Down syndrome; DNA:SNP:CDS:rs2270669 (human) PMID:23626599|REF_RGD_ID:401851041 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9006954 Ullrich Congenital Muscular Dystrophy 1C ISO RGD:1318630 D RGD:7240710 20240320 OMIM 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:1318630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31265121|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:9536098 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9008274 Bethlem Myopathy 1C ISO RGD:1318630 D RGD:7240710 20240320 OMIM 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9884 muscular dystrophy ISO RGD:1318630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:30564623|PMID:9536098 8878660 Col6a3 collagen type VI alpha 3 chain gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1318630 D RGD:9068941 20200609 RGD Bethlem myopathy, OMIM:158810;DNA:missense mutation PMID:9536084|REF_RGD_ID:1600940 8878724 Ttc9c tetratricopeptide repeat domain 9C gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8878724 Ttc9c tetratricopeptide repeat domain 9C gene DOID:1059 intellectual disability ISO RGD:1601809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8878724 Ttc9c tetratricopeptide repeat domain 9C gene DOID:630 genetic disease ISO RGD:1601809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878724 Ttc9c tetratricopeptide repeat domain 9C gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8878738 Nop16 NOP16 nucleolar protein gene DOID:0060071 pre-malignant neoplasm ISO RGD:1605076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8878738 Nop16 NOP16 nucleolar protein gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1605076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8878738 Nop16 NOP16 nucleolar protein gene DOID:14748 Sotos syndrome ISO RGD:1605076 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8878738 Nop16 NOP16 nucleolar protein gene DOID:630 genetic disease ISO RGD:1605076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878738 Nop16 NOP16 nucleolar protein gene DOID:9007188 Liver Neoplasms ISO RGD:1605076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8878747 Necab1 N-terminal EF-hand calcium binding protein 1 gene DOID:630 genetic disease ISO RGD:1342968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878784 Nifk nucleolar protein interacting with the FHA domain of MKI67 gene DOID:630 genetic disease ISO RGD:1345364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878794 Syk spleen associated tyrosine kinase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:736160 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 8878794 Syk spleen associated tyrosine kinase gene DOID:0060180 colitis ISO RGD:736160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colitis PMID:25741868|PMID:28492532|PMID:33782605 8878794 Syk spleen associated tyrosine kinase gene DOID:1909 melanoma ISO RGD:736160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 8878794 Syk spleen associated tyrosine kinase gene DOID:2723 dermatitis ISO RGD:736160 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 8878794 Syk spleen associated tyrosine kinase gene DOID:2843 long QT syndrome ISO RGD:736160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8878794 Syk spleen associated tyrosine kinase gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3796 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 8878794 Syk spleen associated tyrosine kinase gene DOID:630 genetic disease ISO RGD:736160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878794 Syk spleen associated tyrosine kinase gene DOID:848 arthritis ISO RGD:736160 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33782605 8878794 Syk spleen associated tyrosine kinase gene DOID:9003566 Mesothelioma ISO RGD:736160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659810 8878794 Syk spleen associated tyrosine kinase gene DOID:9004738 Immunodeficiency 82 ISO RGD:736160 D RGD:7240710 20210707 OMIM 8878794 Syk spleen associated tyrosine kinase gene DOID:9004738 Immunodeficiency 82 ISO RGD:736160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 82 with systemic inflammation PMID:25741868|PMID:28492532|PMID:33782605 8878820 Vmp1 vacuole membrane protein 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:731420 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8878820 Vmp1 vacuole membrane protein 1 gene DOID:630 genetic disease ISO RGD:731420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878820 Vmp1 vacuole membrane protein 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:731420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 8878836 Tmco4 transmembrane and coiled-coil domains 4 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8878836 Tmco4 transmembrane and coiled-coil domains 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606122 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8878836 Tmco4 transmembrane and coiled-coil domains 4 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606122 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8878836 Tmco4 transmembrane and coiled-coil domains 4 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8878836 Tmco4 transmembrane and coiled-coil domains 4 gene DOID:630 genetic disease ISO RGD:1606122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878836 Tmco4 transmembrane and coiled-coil domains 4 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8878857 Slfn11 schlafen family member 11 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1605312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 8878857 Slfn11 schlafen family member 11 gene DOID:0080600 COVID-19 ISO RGD:1605312 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8878857 Slfn11 schlafen family member 11 gene DOID:630 genetic disease ISO RGD:1605312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878865 Pbxip1 PBX homeobox interacting protein 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8878865 Pbxip1 PBX homeobox interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1313054 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8878865 Pbxip1 PBX homeobox interacting protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8878865 Pbxip1 PBX homeobox interacting protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8878865 Pbxip1 PBX homeobox interacting protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8878865 Pbxip1 PBX homeobox interacting protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8878865 Pbxip1 PBX homeobox interacting protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8878865 Pbxip1 PBX homeobox interacting protein 1 gene DOID:630 genetic disease ISO RGD:1313054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878865 Pbxip1 PBX homeobox interacting protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8878886 Gpr15 G protein-coupled receptor 15 gene DOID:630 genetic disease ISO RGD:1315368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878902 Npepps aminopeptidase puromycin sensitive gene DOID:630 genetic disease ISO RGD:1354170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878929 Atosa atos homolog A gene DOID:2717 Bloom syndrome ISO RGD:1606264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8878929 Atosa atos homolog A gene DOID:607 paraplegia ISO RGD:1606264 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 8878929 Atosa atos homolog A gene DOID:630 genetic disease ISO RGD:1606264 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878929 Atosa atos homolog A gene DOID:9256 colorectal cancer ISO RGD:1606264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8878951 Abhd3 abhydrolase domain containing 3, phospholipase gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1321686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 8878951 Abhd3 abhydrolase domain containing 3, phospholipase gene DOID:1059 intellectual disability ISO RGD:1321686 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8878951 Abhd3 abhydrolase domain containing 3, phospholipase gene DOID:630 genetic disease ISO RGD:1321686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878969 Tmem170a transmembrane protein 170A gene DOID:0110989 Joubert syndrome 20 ISO RGD:1604539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:27449316|PMID:28492532 8878969 Tmem170a transmembrane protein 170A gene DOID:2565 macular corneal dystrophy ISO RGD:1604539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 8878969 Tmem170a transmembrane protein 170A gene DOID:630 genetic disease ISO RGD:1604539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878980 LOC102022034 chromosome unknown open reading frame, human C1orf56 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8878980 LOC102022034 chromosome unknown open reading frame, human C1orf56 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8878980 LOC102022034 chromosome unknown open reading frame, human C1orf56 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8878980 LOC102022034 chromosome unknown open reading frame, human C1orf56 gene DOID:1540 parathyroid carcinoma ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8878980 LOC102022034 chromosome unknown open reading frame, human C1orf56 gene DOID:5812 MHC class II deficiency ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8878980 LOC102022034 chromosome unknown open reading frame, human C1orf56 gene DOID:630 genetic disease ISO RGD:1603033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878980 LOC102022034 chromosome unknown open reading frame, human C1orf56 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8878988 Lrrc58 leucine rich repeat containing 58 gene DOID:630 genetic disease ISO RGD:1606179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8878995 Mast1 microtubule associated serine/threonine kinase 1 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1354102 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 8878995 Mast1 microtubule associated serine/threonine kinase 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1354102 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8878995 Mast1 microtubule associated serine/threonine kinase 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1354102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8878995 Mast1 microtubule associated serine/threonine kinase 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1354102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8878995 Mast1 microtubule associated serine/threonine kinase 1 gene DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ISO RGD:1354102 D RGD:7240710 20190417 OMIM 8878995 Mast1 microtubule associated serine/threonine kinase 1 gene DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations ISO RGD:1354102 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MAST1-related condition | ClinVar Annotator: match by term: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations PMID:25741868|PMID:28492532|PMID:30449657|PMID:32198973|PMID:32901917 8878995 Mast1 microtubule associated serine/threonine kinase 1 gene DOID:1059 intellectual disability ISO RGD:1354102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8878995 Mast1 microtubule associated serine/threonine kinase 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1354102 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8878995 Mast1 microtubule associated serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1354102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12614677|PMID:25741868|PMID:28492532 8878995 Mast1 microtubule associated serine/threonine kinase 1 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1354102 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 8879030 Parp4 poly(ADP-ribose) polymerase family member 4 gene DOID:630 genetic disease ISO RGD:1606845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879030 Parp4 poly(ADP-ribose) polymerase family member 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:1606845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16204055 8879030 Parp4 poly(ADP-ribose) polymerase family member 4 gene DOID:9002928 Colonic Neoplasms exacerbates ISO RGD:1553510 D RGD:9068941 20220602 RGD PMID:16204055|REF_RGD_ID:152977751 8879066 Otx2 orthodenticle homeobox 2 gene DOID:0050902 medulloblastoma ISO RGD:1313892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8879066 Otx2 orthodenticle homeobox 2 gene DOID:0080636 syndromic microphthalmia ISO RGD:1313892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant PMID:25741868|PMID:28492532 8879066 Otx2 orthodenticle homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1313892 D RGD:7240710 20180130 OMIM 8879066 Otx2 orthodenticle homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1313892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar Annotator: match by term: OTX2-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Syndromic microphthalmia type 5 PMID:15846561|PMID:16607563|PMID:17541950|PMID:18628516|PMID:18781617|PMID:19956411|PMID:19965921|PMID:20396904|PMID:20486942|PMID:22577225|PMID:22715480|PMID:24033328|PMID:24167467|PMID:24498598|PMID:25293953|PMID:25326635|PMID:25741868|PMID:27299576|PMID:28492532|PMID:28518168|PMID:30268123|PMID:32461654|PMID:32796691|PMID:33296094 8879066 Otx2 orthodenticle homeobox 2 gene DOID:10629 microphthalmia ISO RGD:1313892 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094 8879066 Otx2 orthodenticle homeobox 2 gene DOID:10907 microcephaly ISO RGD:1313892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:19965921|PMID:25741868|PMID:28492532 8879066 Otx2 orthodenticle homeobox 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1313892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 8879066 Otx2 orthodenticle homeobox 2 gene DOID:630 genetic disease ISO RGD:1313892 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15846561|PMID:16607563|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 8879066 Otx2 orthodenticle homeobox 2 gene DOID:8501 fundus dystrophy ISO RGD:1313892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17541950|PMID:28492532 8879066 Otx2 orthodenticle homeobox 2 gene DOID:9000066 Jaw Abnormalities ISO RGD:1313892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12183386 8879066 Otx2 orthodenticle homeobox 2 gene DOID:9002049 Anophthalmia ISO RGD:1313892 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868|PMID:29178648 8879066 Otx2 orthodenticle homeobox 2 gene DOID:9002955 Nerve Degeneration ISO RGD:1313892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20573704 8879066 Otx2 orthodenticle homeobox 2 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1313892 D RGD:7240710 20180130 OMIM 8879066 Otx2 orthodenticle homeobox 2 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1313892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 6 PMID:17541950|PMID:18728160|PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094 8879066 Otx2 orthodenticle homeobox 2 gene DOID:9410 panhypopituitarism ISO RGD:1313892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8879083 Fstl1 follistatin like 1 gene DOID:3021 acute kidney failure ISO RGD:69033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20861081 8879083 Fstl1 follistatin like 1 gene DOID:418 systemic scleroderma ISO RGD:69033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 8879083 Fstl1 follistatin like 1 gene DOID:57 aortic valve insufficiency ISO RGD:69033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 8879083 Fstl1 follistatin like 1 gene DOID:630 genetic disease ISO RGD:69033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879083 Fstl1 follistatin like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8879083 Fstl1 follistatin like 1 gene DOID:9004657 Weight Gain ISO RGD:69033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8879083 Fstl1 follistatin like 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:69033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8879083 Fstl1 follistatin like 1 gene DOID:9675 pulmonary emphysema ISO RGD:1332393 D RGD:9068941 20220825 MouseDO OMIM:130700 8879106 Dnaaf1 dynein axonemal assembly factor 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1606172 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:19944400|PMID:19944405|PMID:28492532 8879106 Dnaaf1 dynein axonemal assembly factor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1606172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532 8879106 Dnaaf1 dynein axonemal assembly factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606172 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8879106 Dnaaf1 dynein axonemal assembly factor 1 gene DOID:0110618 primary ciliary dyskinesia 13 ISO RGD:1606172 D RGD:7240710 20190315 OMIM 8879106 Dnaaf1 dynein axonemal assembly factor 1 gene DOID:0110618 primary ciliary dyskinesia 13 ISO RGD:1606172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DNAAF1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 PMID:16199547|PMID:19944400|PMID:19944405|PMID:22499950|PMID:23599692|PMID:24033266|PMID:24498942|PMID:25158045|PMID:25741868|PMID:27543293|PMID:27884173|PMID:28492532 8879106 Dnaaf1 dynein axonemal assembly factor 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1606172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8879106 Dnaaf1 dynein axonemal assembly factor 1 gene DOID:630 genetic disease ISO RGD:1606172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8879106 Dnaaf1 dynein axonemal assembly factor 1 gene DOID:758 situs inversus ISO RGD:1606172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532 8879106 Dnaaf1 dynein axonemal assembly factor 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606172 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19944400|PMID:19944405|PMID:22499950|PMID:23599692|PMID:24033266|PMID:24307375|PMID:24498942|PMID:25158045|PMID:25741868|PMID:26633542|PMID:27543293|PMID:27884173|PMID:28492532|PMID:28991257|PMID:29228333|PMID:30067075|PMID:9536098 8879122 CUNH1orf53 chromosome unknown C1orf53 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1606868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8879122 CUNH1orf53 chromosome unknown C1orf53 homolog gene DOID:630 genetic disease ISO RGD:1606868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879122 CUNH1orf53 chromosome unknown C1orf53 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8879138 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:0050424 familial adenomatous polyposis ISO RGD:1346462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561515 8879138 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:0111684 hereditary mixed polyposis syndrome ISO RGD:1346462 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome PMID:33208383 8879138 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:2717 Bloom syndrome ISO RGD:1346462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8879138 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:3770 pulmonary fibrosis ISO RGD:1346462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17975199 8879138 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:5426 primary ovarian insufficiency ISO RGD:1346462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8879138 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:9000217 Stomach Neoplasms ISO RGD:1346462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8879138 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346462 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:25741868|PMID:26845104|PMID:28492532|PMID:33208383 8879138 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084292|PMID:30510241 8879138 Grem1 gremlin 1, DAN family BMP antagonist gene DOID:9256 colorectal cancer ISO RGD:1346462 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25741868|PMID:25992589|PMID:26493165|PMID:26947005|PMID:28492532|PMID:29804199 8879177 Spaca9 sperm acrosome associated 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8879177 Spaca9 sperm acrosome associated 9 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353846 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 8879177 Spaca9 sperm acrosome associated 9 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8879177 Spaca9 sperm acrosome associated 9 gene DOID:0081097 Rafiq syndrome ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8879177 Spaca9 sperm acrosome associated 9 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1353846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8879177 Spaca9 sperm acrosome associated 9 gene DOID:3652 Leigh disease ISO RGD:1353846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8879177 Spaca9 sperm acrosome associated 9 gene DOID:630 genetic disease ISO RGD:1353846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879203 Ttc16 tetratricopeptide repeat domain 16 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8879203 Ttc16 tetratricopeptide repeat domain 16 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8879203 Ttc16 tetratricopeptide repeat domain 16 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1321657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8879203 Ttc16 tetratricopeptide repeat domain 16 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1321657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8879203 Ttc16 tetratricopeptide repeat domain 16 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321657 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8879203 Ttc16 tetratricopeptide repeat domain 16 gene DOID:5426 primary ovarian insufficiency ISO RGD:1321657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8879203 Ttc16 tetratricopeptide repeat domain 16 gene DOID:630 genetic disease ISO RGD:1321657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879226 Ccdc73 coiled-coil domain containing 73 gene DOID:1059 intellectual disability ISO RGD:1601781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8879226 Ccdc73 coiled-coil domain containing 73 gene DOID:630 genetic disease ISO RGD:1601781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879248 Tulp2 TUB like protein 2 gene DOID:630 genetic disease ISO RGD:1321519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879273 Mrpl28 mitochondrial ribosomal protein L28 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349308 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8879273 Mrpl28 mitochondrial ribosomal protein L28 gene DOID:13501 Moebius syndrome ISO RGD:1349308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 8879273 Mrpl28 mitochondrial ribosomal protein L28 gene DOID:1826 epilepsy ISO RGD:1349308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 8879273 Mrpl28 mitochondrial ribosomal protein L28 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8879273 Mrpl28 mitochondrial ribosomal protein L28 gene DOID:630 genetic disease ISO RGD:1349308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879287 Stam2 signal transducing adaptor molecule 2 gene DOID:630 genetic disease ISO RGD:1322986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879328 Rock2 Rho associated coiled-coil containing protein kinase 2 gene DOID:5419 schizophrenia ISO RGD:731503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8879328 Rock2 Rho associated coiled-coil containing protein kinase 2 gene DOID:6000 congestive heart failure ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8879328 Rock2 Rho associated coiled-coil containing protein kinase 2 gene DOID:630 genetic disease ISO RGD:731503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879328 Rock2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9003936 Cardiomegaly ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8879328 Rock2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3590 D RGD:9068941 20200609 RGD PMID:17316608|REF_RGD_ID:1642807 8879328 Rock2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8879328 Rock2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9007023 Prenatal Injuries ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18956198 8879328 Rock2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:731503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8879328 Rock2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9008386 Hydrops Fetalis ISO RGD:731503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 8879328 Rock2 Rho associated coiled-coil containing protein kinase 2 gene DOID:9565 dextrocardia ISO RGD:731503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia 8879416 Cdc14b cell division cycle 14B gene DOID:1059 intellectual disability ISO RGD:1322476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8879416 Cdc14b cell division cycle 14B gene DOID:4450 renal cell carcinoma severity ISO RGD:1322476 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:24619757|REF_RGD_ID:10059341 8879416 Cdc14b cell division cycle 14B gene DOID:630 genetic disease ISO RGD:1322476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879416 Cdc14b cell division cycle 14B gene DOID:9002644 Premature Aging ISO RGD:1322477 D RGD:9068941 20200609 RGD PMID:21262768|REF_RGD_ID:10059338 8879447 Fam111a FAM111 trypsin like peptidase A gene DOID:0080723 Kenny-Caffey syndrome type 2 ISO RGD:1606517 D RGD:7240710 20180130 OMIM 8879447 Fam111a FAM111 trypsin like peptidase A gene DOID:0080723 Kenny-Caffey syndrome type 2 ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714 8879447 Fam111a FAM111 trypsin like peptidase A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606517 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8879447 Fam111a FAM111 trypsin like peptidase A gene DOID:1059 intellectual disability ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8879447 Fam111a FAM111 trypsin like peptidase A gene DOID:10907 microcephaly ISO RGD:1606517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8879447 Fam111a FAM111 trypsin like peptidase A gene DOID:630 genetic disease ISO RGD:1606517 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714 8879447 Fam111a FAM111 trypsin like peptidase A gene DOID:9007661 Dwarfism ISO RGD:1606517 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532 8879447 Fam111a FAM111 trypsin like peptidase A gene DOID:9008032 Gracile Bone Dysplasia ISO RGD:1606517 D RGD:7240710 20180130 OMIM 8879447 Fam111a FAM111 trypsin like peptidase A gene DOID:9008032 Gracile Bone Dysplasia ISO RGD:1606517 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: FAM111A-related condition | ClinVar Annotator: match by term: Osteocraniostenosis PMID:23684011|PMID:23996431|PMID:24635597|PMID:24970356|PMID:25741868|PMID:28492532|PMID:29073591|PMID:32996714 8879454 Rgs10 regulator of G protein signaling 10 gene DOID:11206 opioid abuse ISO RGD:3562 D RGD:9068941 20200609 RGD PMID:22056472|REF_RGD_ID:13524518 8879454 Rgs10 regulator of G protein signaling 10 gene DOID:630 genetic disease ISO RGD:737086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879454 Rgs10 regulator of G protein signaling 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8879454 Rgs10 regulator of G protein signaling 10 gene DOID:9007090 Experimental Seizures ISO RGD:3562 D RGD:9068941 20200609 RGD PMID:12358788|REF_RGD_ID:13524540 8879469 Pax5 paired box 5 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8879469 Pax5 paired box 5 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1352156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8879469 Pax5 paired box 5 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1352156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24013638|PMID:30643249 8879469 Pax5 paired box 5 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8879469 Pax5 paired box 5 gene DOID:630 genetic disease ISO RGD:1352156 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:35094443 8879469 Pax5 paired box 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:35094443 8879469 Pax5 paired box 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8879469 Pax5 paired box 5 gene DOID:9870 galactosemia ISO RGD:1352156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8879469 Pax5 paired box 5 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352156 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 PMID:24013638|PMID:24728327|PMID:25741868|PMID:27993330|PMID:28492532|PMID:30643249|PMID:35094443 8879469 Pax5 paired box 5 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1352156 D RGD:7240710 20200325 OMIM 8879516 Nol7 nucleolar protein 7 gene DOID:630 genetic disease ISO RGD:1343047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879528 Themis2 thymocyte selection associated family member 2 gene DOID:630 genetic disease ISO RGD:1353481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879528 Themis2 thymocyte selection associated family member 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1353481 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19942713 8879541 Pvrig PVR related immunoglobulin domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8879541 Pvrig PVR related immunoglobulin domain containing gene DOID:630 genetic disease ISO RGD:1604301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879551 Mybbp1a MYB binding protein 1a gene DOID:12849 autistic disorder ISO RGD:69133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8879551 Mybbp1a MYB binding protein 1a gene DOID:630 genetic disease ISO RGD:69133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879551 Mybbp1a MYB binding protein 1a gene DOID:9002304 Prostatic Neoplasms ISO RGD:69133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8879592 LOC102014040 olfactory receptor 2D2 gene DOID:630 genetic disease ISO RGD:1345086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879595 Atpaf1 ATP synthase mitochondrial F1 complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:1313436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879595 Atpaf1 ATP synthase mitochondrial F1 complex assembly factor 1 gene DOID:9970 obesity ISO RGD:1313436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8879634 Cenpa centromere protein A gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1349480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8879634 Cenpa centromere protein A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1349480 D RGD:9068941 20200730 RGD mRNA:increased expression:lung (human) PMID:30008938|REF_RGD_ID:36947379 8879634 Cenpa centromere protein A gene DOID:417 autoimmune disease ISO RGD:1349480 D RGD:9068941 20200730 RGD PMID:10759786|REF_RGD_ID:36947376 8879634 Cenpa centromere protein A gene DOID:630 genetic disease ISO RGD:1349480 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879634 Cenpa centromere protein A gene DOID:684 hepatocellular carcinoma ISO RGD:1349480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8879634 Cenpa centromere protein A gene DOID:684 hepatocellular carcinoma ISO RGD:1349480 D RGD:9068941 20200730 RGD protein:increased expression:liver (human) PMID:21956590|REF_RGD_ID:36947377 8879653 Tmem178b transmembrane protein 178B gene DOID:0080690 RASopathy ISO RGD:6767208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8879653 Tmem178b transmembrane protein 178B gene DOID:630 genetic disease ISO RGD:6767208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879662 Nedd9 neural precursor cell expressed, developmentally down-regulated 9 gene DOID:2377 multiple sclerosis ISO RGD:1314803 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8879662 Nedd9 neural precursor cell expressed, developmentally down-regulated 9 gene DOID:630 genetic disease ISO RGD:1314803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879707 Dmac2 distal membrane arm assembly component 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8879707 Dmac2 distal membrane arm assembly component 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8879707 Dmac2 distal membrane arm assembly component 2 gene DOID:2340 craniosynostosis ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8879707 Dmac2 distal membrane arm assembly component 2 gene DOID:630 genetic disease ISO RGD:1605674 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879707 Dmac2 distal membrane arm assembly component 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8879707 Dmac2 distal membrane arm assembly component 2 gene DOID:9269 maple syrup urine disease ISO RGD:1605674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8879723 Adgb androglobin gene DOID:14261 fragile X syndrome ISO RGD:1343309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome 8879723 Adgb androglobin gene DOID:630 genetic disease ISO RGD:1343309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879766 Gspt2 G1 to S phase transition 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8879766 Gspt2 G1 to S phase transition 2 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:1354196 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 8879766 Gspt2 G1 to S phase transition 2 gene DOID:12849 autistic disorder ISO RGD:1354196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8879766 Gspt2 G1 to S phase transition 2 gene DOID:630 genetic disease ISO RGD:1354196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879772 Ddx52 DExD-box helicase 52 gene DOID:0060041 autism spectrum disorder ISO RGD:1349454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8879772 Ddx52 DExD-box helicase 52 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1349454 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 8879772 Ddx52 DExD-box helicase 52 gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:1349454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 8879772 Ddx52 DExD-box helicase 52 gene DOID:12849 autistic disorder ISO RGD:1349454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8879772 Ddx52 DExD-box helicase 52 gene DOID:5419 schizophrenia ISO RGD:1349454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8879772 Ddx52 DExD-box helicase 52 gene DOID:630 genetic disease ISO RGD:1349454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879772 Ddx52 DExD-box helicase 52 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8879791 Camkv CaM kinase like vesicle associated gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8879791 Camkv CaM kinase like vesicle associated gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8879791 Camkv CaM kinase like vesicle associated gene DOID:630 genetic disease ISO RGD:1604302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879791 Camkv CaM kinase like vesicle associated gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1604302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8879791 Camkv CaM kinase like vesicle associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:1604302 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8879818 Pxdn peroxidasin gene DOID:0060648 anterior segment dysgenesis ISO RGD:1607083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES PMID:26694549|PMID:28492532|PMID:32499604 8879818 Pxdn peroxidasin gene DOID:0080612 anterior segment dysgenesis 7 ISO RGD:1607083 D RGD:7240710 20180130 OMIM 8879818 Pxdn peroxidasin gene DOID:0080612 anterior segment dysgenesis 7 ISO RGD:1607083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 7 | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES PMID:17576681|PMID:21474777|PMID:21907015|PMID:24939590|PMID:25741868|PMID:26694549|PMID:28492532|PMID:9536098 8879818 Pxdn peroxidasin gene DOID:11211 buphthalmos ISO RGD:1607083 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A PMID:25741868 8879818 Pxdn peroxidasin gene DOID:630 genetic disease ISO RGD:1607083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8879818 Pxdn peroxidasin gene DOID:83 cataract ISO RGD:1607083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:26694549|PMID:28492532 8879818 Pxdn peroxidasin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8879818 Pxdn peroxidasin gene DOID:9119 acute myeloid leukemia ISO RGD:1607083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8879849 Otogl otogelin like gene DOID:0110530 autosomal recessive nonsyndromic deafness 84B ISO RGD:1603526 D RGD:7240710 20180130 OMIM 8879849 Otogl otogelin like gene DOID:0110530 autosomal recessive nonsyndromic deafness 84B ISO RGD:1603526 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 84b PMID:16199547|PMID:17576681|PMID:23122586|PMID:23850727|PMID:24033266|PMID:25719458|PMID:25741868|PMID:26969326|PMID:28492532|PMID:35802133|PMID:36633841|PMID:9536098 8879849 Otogl otogelin like gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1603526 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:28492532 8879849 Otogl otogelin like gene DOID:11372 megacolon ISO RGD:1603526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8879849 Otogl otogelin like gene DOID:422 congenital structural myopathy ISO RGD:1603526 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:28492532 8879849 Otogl otogelin like gene DOID:630 genetic disease ISO RGD:1603526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:23122586|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8879849 Otogl otogelin like gene DOID:9004538 Hearing Loss ISO RGD:1603526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:28492532|PMID:30311386 8879916 Lrif1 ligand dependent nuclear receptor interacting factor 1 gene DOID:0060917 facioscapulohumeral muscular dystrophy 3 ISO RGD:1603986 D RGD:7240710 20210825 OMIM 8879916 Lrif1 ligand dependent nuclear receptor interacting factor 1 gene DOID:0060917 facioscapulohumeral muscular dystrophy 3 ISO RGD:1603986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 3, digenic PMID:32467133 8879916 Lrif1 ligand dependent nuclear receptor interacting factor 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8879916 Lrif1 ligand dependent nuclear receptor interacting factor 1 gene DOID:12849 autistic disorder ISO RGD:1603986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8879916 Lrif1 ligand dependent nuclear receptor interacting factor 1 gene DOID:630 genetic disease ISO RGD:1603986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879934 Samd4b sterile alpha motif domain containing 4B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1605980 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8879934 Samd4b sterile alpha motif domain containing 4B gene DOID:630 genetic disease ISO RGD:1605980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879934 Samd4b sterile alpha motif domain containing 4B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8879960 Sart3 spliceosome associated factor 3, U4/U6 recycling protein gene DOID:630 genetic disease ISO RGD:1323212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8879960 Sart3 spliceosome associated factor 3, U4/U6 recycling protein gene DOID:9000408 Porokeratosis 3, Multiple Types ISO RGD:1323212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 PMID:15840095|PMID:17392836 8879987 Ikzf5 IKAROS family zinc finger 5 gene DOID:2340 craniosynostosis ISO RGD:1322164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 8879987 Ikzf5 IKAROS family zinc finger 5 gene DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency ISO RGD:1322164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:28492532 8879987 Ikzf5 IKAROS family zinc finger 5 gene DOID:9008457 Thrombocytopenia 7 ISO RGD:1322164 D RGD:7240710 20210113 OMIM 8879987 Ikzf5 IKAROS family zinc finger 5 gene DOID:9008457 Thrombocytopenia 7 ISO RGD:1322164 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 7 PMID:25741868|PMID:31217188|PMID:32419556 8880004 Calr calreticulin gene DOID:0050731 vitamin B12 deficiency ISO RGD:620288 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:25982389|REF_RGD_ID:11352764 8880004 Calr calreticulin gene DOID:0050866 oral squamous cell carcinoma ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:mouth (human) PMID:23375593|REF_RGD_ID:150521688 8880004 Calr calreticulin gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:731575 D RGD:9068941 20211029 RGD protein:increased expression:oral epithelium (human) PMID:28599487|REF_RGD_ID:150520158 8880004 Calr calreticulin gene DOID:0050990 episodic ataxia type 2 ISO RGD:731575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8880004 Calr calreticulin gene DOID:0070004 myeloid neoplasm ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 8880004 Calr calreticulin gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:731575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8880004 Calr calreticulin gene DOID:0111254 glutaric acidemia I ISO RGD:731575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8880004 Calr calreticulin gene DOID:10534 stomach cancer disease_progression ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:stomach (human) PMID:31725767|REF_RGD_ID:150521680 8880004 Calr calreticulin gene DOID:10534 stomach cancer exacerbates ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:stomach (human) PMID:19050968|REF_RGD_ID:150521686 8880004 Calr calreticulin gene DOID:1324 lung cancer ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:blood serum (human) PMID:22083347|PMID:24111870|REF_RGD_ID:150521678|REF_RGD_ID:150521704 8880004 Calr calreticulin gene DOID:1324 lung cancer treatment ISO RGD:1550061 D RGD:9068941 20211119 RGD PMID:32161598|REF_RGD_ID:150521699 8880004 Calr calreticulin gene DOID:1324 lung cancer treatment ISO RGD:731575 D RGD:9068941 20211029 RGD PMID:26314964|REF_RGD_ID:150520159 8880004 Calr calreticulin gene DOID:1324 lung cancer treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant gene in a mouse model PMID:12215887|REF_RGD_ID:150521700 8880004 Calr calreticulin gene DOID:1520 colon carcinoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant protein in a mouse model PMID:9858521|REF_RGD_ID:150521687 8880004 Calr calreticulin gene DOID:169 neuroendocrine tumor exacerbates ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant protein in a mouse model PMID:16293970|REF_RGD_ID:150521697 8880004 Calr calreticulin gene DOID:219 colon cancer ameliorates ISO RGD:1550061 D RGD:9068941 20211119 RGD PMID:17187072|REF_RGD_ID:150521684 8880004 Calr calreticulin gene DOID:219 colon cancer ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:colon (human) PMID:20480531|REF_RGD_ID:150521693 8880004 Calr calreticulin gene DOID:219 colon cancer treatment ISO RGD:1550061 D RGD:9068941 20211119 RGD PMID:19881547|PMID:29573475|REF_RGD_ID:150521692|REF_RGD_ID:150521694 8880004 Calr calreticulin gene DOID:219 colon cancer treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cell line and recombinant gene in a mouse model PMID:19256344|REF_RGD_ID:150521701 8880004 Calr calreticulin gene DOID:2224 essential thrombocythemia ISO RGD:731575 D RGD:7240710 20180130 OMIM 8880004 Calr calreticulin gene DOID:2224 essential thrombocythemia ISO RGD:731575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:24325356|PMID:24325359|PMID:25741868 8880004 Calr calreticulin gene DOID:2224 essential thrombocythemia severity ISO RGD:731575 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:24496303|REF_RGD_ID:11352751 8880004 Calr calreticulin gene DOID:2228 thrombocytosis ISO RGD:731575 D RGD:9068941 20200609 RGD human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human) PMID:26608331|REF_RGD_ID:11352752 8880004 Calr calreticulin gene DOID:2228 thrombocytosis ISO RGD:731575 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism 8880004 Calr calreticulin gene DOID:234 colon adenocarcinoma ISO UniProtKB:Q76PP9 D RGD:9068941 20211119 RGD PMID:18812201|REF_RGD_ID:150521683 8880004 Calr calreticulin gene DOID:2394 ovarian cancer treatment ISO RGD:731575 D RGD:9068941 20211029 RGD PMID:26314964|REF_RGD_ID:150520159 8880004 Calr calreticulin gene DOID:3121 gallbladder cancer exacerbates ISO RGD:731575 D RGD:9068941 20211119 RGD mRNA, protein:increased expression:gall bladder (human) PMID:33591948|REF_RGD_ID:150521682 8880004 Calr calreticulin gene DOID:3413 alpha-mannosidosis ISO RGD:731575 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8880004 Calr calreticulin gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211029 RGD human cells in mouse model PMID:33028359|REF_RGD_ID:150520160 8880004 Calr calreticulin gene DOID:3498 pancreatic ductal adenocarcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD human cells in a mouse model PMID:29072694|REF_RGD_ID:150521706 8880004 Calr calreticulin gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731575 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct PMID:15289361|REF_RGD_ID:2326165 8880004 Calr calreticulin gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:1550061 D RGD:9068941 20211119 RGD human cell line and construct in a mouse model PMID:25619450|REF_RGD_ID:150521705 8880004 Calr calreticulin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8880004 Calr calreticulin gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD human cells in a mouse model PMID:19684620|PMID:23814025|REF_RGD_ID:150521679|REF_RGD_ID:150521703 8880004 Calr calreticulin gene DOID:3770 pulmonary fibrosis ISO RGD:1550061 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18563736|REF_RGD_ID:2326172 8880004 Calr calreticulin gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD mRNA, protein:increased expression:lung (human) PMID:29228584|REF_RGD_ID:150521696 8880004 Calr calreticulin gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:lung (human) PMID:26842877|REF_RGD_ID:150521685 8880004 Calr calreticulin gene DOID:3910 lung adenocarcinoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant gene in a mouse model PMID:18245558|REF_RGD_ID:150521698 8880004 Calr calreticulin gene DOID:4971 myelofibrosis ISO RGD:731575 D RGD:7240710 20180130 OMIM 8880004 Calr calreticulin gene DOID:4971 myelofibrosis ISO RGD:731575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis PMID:24325356|PMID:24325359|PMID:25741868 8880004 Calr calreticulin gene DOID:630 genetic disease ISO RGD:731575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880004 Calr calreticulin gene DOID:684 hepatocellular carcinoma ISO RGD:731575 D RGD:9068941 20211119 RGD PMID:12096119|REF_RGD_ID:150521690 8880004 Calr calreticulin gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:liver (human) PMID:27055635|REF_RGD_ID:150521681 8880004 Calr calreticulin gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant gene in a mouse model PMID:24997628|REF_RGD_ID:150521691 8880004 Calr calreticulin gene DOID:8584 Burkitt lymphoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cell line and recombinant protein in a mouse model PMID:10961892|REF_RGD_ID:150521702 8880004 Calr calreticulin gene DOID:8584 Burkitt lymphoma treatment ISO RGD:731575 D RGD:9068941 20211119 RGD human cells and recombinant protein in a mouse model PMID:9858521|REF_RGD_ID:150521687 8880004 Calr calreticulin gene DOID:8955 sideroblastic anemia ISO RGD:731575 D RGD:9068941 20200609 RGD DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) PMID:24325359|REF_RGD_ID:11352763 8880004 Calr calreticulin gene DOID:9000784 Fibrosis disease_progression ISO RGD:620288 D RGD:9068941 20200609 RGD associated with kidney disease; mRNA, protein:increased expression:kidney cortex PMID:18563736|REF_RGD_ID:2326172 8880004 Calr calreticulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 8880004 Calr calreticulin gene DOID:9002575 Myeloperoxidase Deficiency ISO RGD:731575 D RGD:9068941 20200609 RGD associated with Myelofibrosis;DNA:missense mutations:cds:multiple (human) PMID:27013444|REF_RGD_ID:11352758 8880004 Calr calreticulin gene DOID:9004118 Experimental Melanoma ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16388313 8880004 Calr calreticulin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 8880004 Calr calreticulin gene DOID:9007102 Myocardial Ischemia ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8880004 Calr calreticulin gene DOID:9008443 Colorectal Neoplasms ISO RGD:731575 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17187072 8880004 Calr calreticulin gene DOID:9119 acute myeloid leukemia ISO RGD:731575 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood (human) PMID:26640226|REF_RGD_ID:11076986 8880004 Calr calreticulin gene DOID:9256 colorectal cancer ISO RGD:731575 D RGD:9068941 20211119 RGD protein:decreased expression:colorectum (human) PMID:26913609|REF_RGD_ID:150521695 8880004 Calr calreticulin gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731575 D RGD:9068941 20211119 RGD protein:increased expression:epithelium of nasopharynx (human) PMID:31956372|REF_RGD_ID:150521689 8880004 Calr calreticulin gene DOID:9261 nasopharynx carcinoma exacerbates ISO RGD:731575 D RGD:9068941 20211029 RGD protein:increased expression:epithelium of nasopharynx (human) PMID:31632490|REF_RGD_ID:150520157 8880027 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9976 heroin dependence ISO RGD:731547 D RGD:9068941 20240321 RGD mRNA:increased expression:ventral striatum (human) PMID:27863698|REF_RGD_ID:405096665 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0050889 non-syndromic intellectual disability ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-syndromic intellectual disability PMID:30504930|PMID:35675825 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060001 withdrawal disorder ISO RGD:621531 D RGD:9068941 20240229 RGD heroin withdrawal disorder;protein:increased phosphorylation:multiple (rat) PMID:19084907|REF_RGD_ID:401976470 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060001 withdrawal disorder ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11404432|PMID:12511956 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930|PMID:35675825 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0060043 sexual health disorder ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0081235 autosomal recessive intellectual developmental disorder 76 ISO RGD:731547 D RGD:7240710 20220720 OMIM 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:0081235 autosomal recessive intellectual developmental disorder 76 ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 76 PMID:35675825 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1059 intellectual disability ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25363760|PMID:25741868|PMID:28628100|PMID:35675825 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:11832 visual epilepsy ISO RGD:621531 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:19666089|REF_RGD_ID:4107726 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:12849 autistic disorder ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11706102 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:13413 hepatic encephalopathy ISO RGD:621531 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, synaptosome (rat) PMID:19450629|REF_RGD_ID:4108489 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1824 status epilepticus ISO RGD:621531 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1824 status epilepticus ISO RGD:621531 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:19914343|REF_RGD_ID:4107719 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:1826 epilepsy ISO RGD:621531 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:19154779|REF_RGD_ID:2326034 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:2560 morphine dependence ISO RGD:621531 D RGD:9068941 20240229 RGD PMID:25716866|REF_RGD_ID:401976466 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:2560 morphine dependence ISO RGD:621531 D RGD:9068941 20240321 RGD protein:increased phosphorylation:nucleus accumbens (rat) PMID:24201449|REF_RGD_ID:405096668 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:2560 morphine dependence ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11404432 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:4481 allergic rhinitis ISO RGD:731547 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:5418 schizoaffective disorder ISO RGD:735685 D RGD:9068941 20220825 MouseDO 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:630 genetic disease ISO RGD:731547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:809 cocaine abuse sexual_dimorphism ISO RGD:735685 D RGD:9068941 20240229 RGD protein:increased expression:prefrontal cortex (mouse) PMID:33497752|REF_RGD_ID:401976469 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:8927 learning disability ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16495937 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:621531 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortical neuron (rat) PMID:20398734|REF_RGD_ID:4107070 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9002362 Hyperkinesis ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18171924|PMID:19036973 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9003736 Central Nervous System Viral Diseases ISO RGD:621531 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:19660546|REF_RGD_ID:2325963 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9004009 Reperfusion Injury ISO RGD:621531 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:20408958|REF_RGD_ID:4107069 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9004042 Olfaction Disorders ISO RGD:731547 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731547 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28628100 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9005111 morphine withdrawal syndrome ISO RGD:621531 D RGD:9068941 20240229 RGD associated with Pain;protein:increased expression:central amygdaloid nucleus (rat) PMID:25716866|REF_RGD_ID:401976466 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14684464|PMID:15764012|PMID:16495937|PMID:18430032|PMID:18486119 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9006024 Hypotension ISO RGD:731547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18639534 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9007677 Autosomal Dominant Intellectual Developmental Disorder 67 ISO RGD:731547 D RGD:7240710 20220720 OMIM 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9007677 Autosomal Dominant Intellectual Developmental Disorder 67 ISO RGD:731547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 67 PMID:23033978|PMID:25363760|PMID:25741868|PMID:28628100|PMID:30504930|PMID:35675825 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:621531 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 8880027 Gria1 glutamate ionotropic receptor AMPA type subunit 1 gene DOID:9975 cocaine dependence ISO RGD:621531 D RGD:9068941 20240321 RGD PMID:18430032|REF_RGD_ID:405096666 8880071 Ccdc152 coiled-coil domain containing 152 gene DOID:630 genetic disease ISO RGD:2298815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880071 Ccdc152 coiled-coil domain containing 152 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2298815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8880101 Hgs hepatocyte growth factor-regulated tyrosine kinase substrate gene DOID:630 genetic disease ISO RGD:733649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880141 Heatr5b HEAT repeat containing 5B gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1604000 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HEATR5B-associated Pontocerebellar hypoplasia PMID:25741868|PMID:33824466 8880141 Heatr5b HEAT repeat containing 5B gene DOID:630 genetic disease ISO RGD:1604000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880141 Heatr5b HEAT repeat containing 5B gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:1604000 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay 8880213 Cdc42ep4 CDC42 effector protein 4 gene DOID:630 genetic disease ISO RGD:1323093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880228 Mettl16 methyltransferase 16, RNA N6-adenosine gene DOID:630 genetic disease ISO RGD:1604299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880228 Mettl16 methyltransferase 16, RNA N6-adenosine gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:732444 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:0080942 anauxetic dysplasia ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:732444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:9001911 Craniosynostosis and Dental Anomalies ISO RGD:732444 D RGD:7240710 20180130 OMIM 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:9001911 Craniosynostosis and Dental Anomalies ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis and dental anomalies PMID:21741611|PMID:25741868|PMID:34906502 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:732444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11161848 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:9004649 Heat Stroke ISO RGD:1553290 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:9562 primary ciliary dyskinesia ISO RGD:732444 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8880245 Il11ra interleukin 11 receptor subunit alpha gene DOID:9870 galactosemia ISO RGD:732444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:11286505|PMID:15841485|PMID:17079880|PMID:22944367|PMID:28492532 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:0060903 thrombosis ISO RGD:1604306 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Thrombus PMID:17110455|PMID:18252229|PMID:20128861|PMID:22266406|PMID:22871975|PMID:22992668|PMID:23571513|PMID:25741868|PMID:28492532|PMID:31114289 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:0080665 warfarin resistance ISO RGD:1604306 D RGD:7240710 20180130 OMIM 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:0080665 warfarin resistance ISO RGD:1604306 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:15930419|PMID:15947090|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16580898|PMID:16611310|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:16890578|PMID:17031720|PMID:17049586|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17510308|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18305455|PMID:18322281|PMID:18466099|PMID:18535201|PMID:18542936|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19018719|PMID:19074728|PMID:19077919|PMID:19135231|PMID:19177029|PMID:19225451|PMID:19228618|PMID:19270263|PMID:19277427|PMID:19297219|PMID:19300499|PMID:19387626|PMID:19582440|PMID:19679631|PMID:19745563|PMID:19794411|PMID:19874474|PMID:19875892|PMID:20020283|PMID:20072124|PMID:20128861|PMID:20203262|PMID:20339978|PMID:20375999|PMID:20376629|PMID:20386359|PMID:20421126|PMID:20555338|PMID:20585834|PMID:20615525|PMID:20653676|PMID:20833655|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21110192|PMID:21148049|PMID:21174619|PMID:21176721|PMID:21185752|PMID:21228733|PMID:21273734|PMID:21318593|PMID:21320153|PMID:21326313|PMID:21636598|PMID:21747589|PMID:21981797|PMID:22010099|PMID:22040439|PMID:22075505|PMID:22130800|PMID:22158446|PMID:22248286|PMID:22266406|PMID:22274142|PMID:22349464|PMID:22486182|PMID:22528326|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22629463|PMID:22676192|PMID:22854539|PMID:22871975|PMID:22911785|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23061746|PMID:23104259|PMID:23159229|PMID:23159639|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23473641|PMID:23481074|PMID:23571513|PMID:23602689|PMID:23651023|PMID:23774101|PMID:23774941|PMID:23932037|PMID:23949431|PMID:23990957|PMID:24019055|PMID:24029542|PMID:24108193|PMID:24224579|PMID:24330000|PMID:24474498|PMID:24601977|PMID:24728385|PMID:24919870|PMID:24956252|PMID:25001883|PMID:25026456|PMID:25042728|PMID:25084205|PMID:25089947|PMID:25244877|PMID:25312789|PMID:25519826|PMID:25521356|PMID:25594941|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26024874|PMID:26219158|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26745506|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27335128|PMID:27488176|PMID:27511999|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28382498|PMID:28429387|PMID:28492532|PMID:28550460|PMID:28689179|PMID:29054760|PMID:29396738|PMID:29432897|PMID:29568565|PMID:29577257|PMID:29781049|PMID:30207196|PMID:30983536|PMID:31114289|PMID:31395958|PMID:31653973|PMID:31720756|PMID:31902949 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:0080666 warfarin sensitivity ISO RGD:1604306 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:15930419|PMID:15947090|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16580898|PMID:16611310|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:16890578|PMID:17031720|PMID:17049586|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17510308|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18305455|PMID:18322281|PMID:18466099|PMID:18535201|PMID:18542936|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19018719|PMID:19074728|PMID:19077919|PMID:19135231|PMID:19177029|PMID:19225451|PMID:19228618|PMID:19270263|PMID:19277427|PMID:19297219|PMID:19300499|PMID:19387626|PMID:19582440|PMID:19679631|PMID:19745563|PMID:19794411|PMID:19874474|PMID:19875892|PMID:20020283|PMID:20072124|PMID:20128861|PMID:20203262|PMID:20339978|PMID:20375999|PMID:20376629|PMID:20386359|PMID:20421126|PMID:20555338|PMID:20585834|PMID:20615525|PMID:20653676|PMID:20833655|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21110192|PMID:21148049|PMID:21174619|PMID:21176721|PMID:21185752|PMID:21228733|PMID:21273734|PMID:21318593|PMID:21320153|PMID:21326313|PMID:21636598|PMID:21747589|PMID:21981797|PMID:22010099|PMID:22040439|PMID:22075505|PMID:22130800|PMID:22158446|PMID:22248286|PMID:22266406|PMID:22274142|PMID:22349464|PMID:22486182|PMID:22528326|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22629463|PMID:22676192|PMID:22854539|PMID:22871975|PMID:22911785|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23061746|PMID:23104259|PMID:23159229|PMID:23159639|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23473641|PMID:23481074|PMID:23571513|PMID:23602689|PMID:23651023|PMID:23774101|PMID:23774941|PMID:23932037|PMID:23949431|PMID:23990957|PMID:24019055|PMID:24029542|PMID:24108193|PMID:24224579|PMID:24330000|PMID:24474498|PMID:24601977|PMID:24728385|PMID:24919870|PMID:24956252|PMID:25001883|PMID:25026456|PMID:25042728|PMID:25084205|PMID:25089947|PMID:25244877|PMID:25312789|PMID:25519826|PMID:25521356|PMID:25594941|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26024874|PMID:26219158|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26745506|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27335128|PMID:27488176|PMID:27511999|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28382498|PMID:28429387|PMID:28492532|PMID:28550460|PMID:28689179|PMID:29054760|PMID:29396738|PMID:29432897|PMID:29568565|PMID:29577257|PMID:29781049|PMID:30207196|PMID:30983536|PMID:31114289|PMID:31395958|PMID:31653973|PMID:31720756|PMID:31902949 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:7240710 20180130 OMIM 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 ISO RGD:1604306 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, type 2 PMID:11154138|PMID:14765194|PMID:15358623|PMID:15883587|PMID:16270629|PMID:16270630|PMID:16611750|PMID:16676068|PMID:16879214|PMID:16890578|PMID:17049586|PMID:17110455|PMID:17189218|PMID:18252229|PMID:18315553|PMID:18466099|PMID:19344422|PMID:20128861|PMID:20653676|PMID:21127708|PMID:21326313|PMID:21635147|PMID:22266406|PMID:22349464|PMID:22871975|PMID:22992668|PMID:23039877|PMID:23208322|PMID:23571513|PMID:23990957|PMID:24019055|PMID:24838629|PMID:25084205|PMID:25126975|PMID:25594941|PMID:25741868|PMID:28492532|PMID:31114289 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:1247 blood coagulation disease ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19141161 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:178 vascular disease ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1604306 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:9000185 Coumarin Sensitivity ISO RGD:1604306 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:14765194|PMID:15358623|PMID:15883587|PMID:15888487|PMID:15930419|PMID:15947090|PMID:16201835|PMID:16270629|PMID:16432637|PMID:16580898|PMID:16611310|PMID:16611750|PMID:16676068|PMID:16815313|PMID:16821005|PMID:16890578|PMID:17031720|PMID:17049586|PMID:17110455|PMID:17111199|PMID:17329985|PMID:17391071|PMID:17510308|PMID:17596133|PMID:17989110|PMID:18030307|PMID:18240904|PMID:18252229|PMID:18305455|PMID:18322281|PMID:18466099|PMID:18535201|PMID:18542936|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18781852|PMID:18855533|PMID:18950464|PMID:19018719|PMID:19074728|PMID:19077919|PMID:19135231|PMID:19177029|PMID:19225451|PMID:19228618|PMID:19270263|PMID:19277427|PMID:19297219|PMID:19300499|PMID:19387626|PMID:19582440|PMID:19679631|PMID:19745563|PMID:19794411|PMID:19874474|PMID:19875892|PMID:20020283|PMID:20072124|PMID:20128861|PMID:20203262|PMID:20339978|PMID:20375999|PMID:20376629|PMID:20386359|PMID:20421126|PMID:20555338|PMID:20585834|PMID:20615525|PMID:20653676|PMID:20833655|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21110192|PMID:21148049|PMID:21174619|PMID:21176721|PMID:21185752|PMID:21228733|PMID:21273734|PMID:21318593|PMID:21320153|PMID:21326313|PMID:21636598|PMID:21747589|PMID:21981797|PMID:22010099|PMID:22040439|PMID:22075505|PMID:22130800|PMID:22158446|PMID:22248286|PMID:22266406|PMID:22274142|PMID:22349464|PMID:22486182|PMID:22528326|PMID:22534826|PMID:22549502|PMID:22571356|PMID:22592842|PMID:22629463|PMID:22676192|PMID:22854539|PMID:22871975|PMID:22911785|PMID:22920394|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23061746|PMID:23104259|PMID:23159229|PMID:23159639|PMID:23183958|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23473641|PMID:23481074|PMID:23571513|PMID:23602689|PMID:23651023|PMID:23774101|PMID:23774941|PMID:23932037|PMID:23949431|PMID:23990957|PMID:24019055|PMID:24029542|PMID:24108193|PMID:24224579|PMID:24330000|PMID:24474498|PMID:24601977|PMID:24728385|PMID:24919870|PMID:24956252|PMID:25001883|PMID:25026456|PMID:25042728|PMID:25084205|PMID:25089947|PMID:25244877|PMID:25312789|PMID:25519826|PMID:25521356|PMID:25594941|PMID:25741868|PMID:25769357|PMID:25989350|PMID:26024874|PMID:26219158|PMID:26223945|PMID:26257249|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26745506|PMID:26777610|PMID:26984978|PMID:26996562|PMID:27121899|PMID:27262824|PMID:27335128|PMID:27488176|PMID:27511999|PMID:27581200|PMID:27617219|PMID:27703968|PMID:27938396|PMID:28033245|PMID:28049362|PMID:28262345|PMID:28382498|PMID:28429387|PMID:28492532|PMID:28550460|PMID:28689179|PMID:29054760|PMID:29396738|PMID:29432897|PMID:29568565|PMID:29577257|PMID:29781049|PMID:30207196|PMID:30983536|PMID:31114289|PMID:31395958|PMID:31653973|PMID:31720756|PMID:31902949 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:9000528 Coronary Disease ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:9000815 Aortic Calcification susceptibility ISO RGD:1303107 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.Y139C (416A>G) (rat) PMID:19884975|REF_RGD_ID:2315841 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:1604306 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Venous thromboembolism PMID:15883587|PMID:15888487|PMID:15930419|PMID:15947090|PMID:16580898|PMID:16611310|PMID:16890578|PMID:17049586|PMID:17510308|PMID:18030307|PMID:18252229|PMID:18305455|PMID:18322281|PMID:18535201|PMID:18542936|PMID:18574025|PMID:18629445|PMID:18690342|PMID:18855533|PMID:18950464|PMID:19018719|PMID:19135231|PMID:19228618|PMID:19277427|PMID:19300499|PMID:19387626|PMID:19582440|PMID:19679631|PMID:19745563|PMID:19794411|PMID:19874474|PMID:19875892|PMID:20072124|PMID:20128861|PMID:20203262|PMID:20339978|PMID:20375999|PMID:20376629|PMID:20386359|PMID:20421126|PMID:20555338|PMID:20615525|PMID:20653676|PMID:20833655|PMID:20833980|PMID:21057703|PMID:21110013|PMID:21110192|PMID:21148049|PMID:21174619|PMID:21176721|PMID:21185752|PMID:21228733|PMID:21318593|PMID:21320153|PMID:21636598|PMID:21747589|PMID:22010099|PMID:22040439|PMID:22130800|PMID:22158446|PMID:22274142|PMID:22349464|PMID:22486182|PMID:22528326|PMID:22571356|PMID:22592842|PMID:22629463|PMID:22676192|PMID:22854539|PMID:22911785|PMID:22990331|PMID:22992668|PMID:23016521|PMID:23061746|PMID:23104259|PMID:23159639|PMID:23279643|PMID:23299853|PMID:23423913|PMID:23473641|PMID:23481074|PMID:23602689|PMID:23651023|PMID:23774101|PMID:23774941|PMID:23932037|PMID:23949431|PMID:23990957|PMID:24019055|PMID:24029542|PMID:24108193|PMID:24224579|PMID:24330000|PMID:24474498|PMID:24601977|PMID:24919870|PMID:24956252|PMID:25001883|PMID:25042728|PMID:25084205|PMID:25089947|PMID:25244877|PMID:25312789|PMID:25519826|PMID:25521356|PMID:25594941|PMID:25769357|PMID:26024874|PMID:26219158|PMID:26433837|PMID:26445138|PMID:26739746|PMID:26745506|PMID:26777610|PMID:26984978|PMID:27262824|PMID:27335128|PMID:27488176|PMID:27511999|PMID:27581200|PMID:27617219|PMID:27703968|PMID:28033245|PMID:28049362|PMID:28382498|PMID:28429387|PMID:28550460|PMID:28689179|PMID:29396738|PMID:29432897|PMID:29568565|PMID:29577257|PMID:29781049|PMID:31114289|PMID:31395958|PMID:31720756|PMID:31902949 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:9004080 Aortic Rupture ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26445138 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:9007096 Stroke ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549638 8880262 Vkorc1 vitamin K epoxide reductase complex subunit 1 gene DOID:9008217 Hemorrhage ISO RGD:1604306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20597268|PMID:26445138 8880268 Brsk2 BR serine/threonine kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8880268 Brsk2 BR serine/threonine kinase 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8880268 Brsk2 BR serine/threonine kinase 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8880268 Brsk2 BR serine/threonine kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8880268 Brsk2 BR serine/threonine kinase 2 gene DOID:1059 intellectual disability ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8880268 Brsk2 BR serine/threonine kinase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8880268 Brsk2 BR serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1345228 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30879638 8880268 Brsk2 BR serine/threonine kinase 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1345228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8880268 Brsk2 BR serine/threonine kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345228 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8880309 Fcn3 ficolin 3 gene DOID:0050827 rheumatic heart disease ISO RGD:1348305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatic heart disease 8880309 Fcn3 ficolin 3 gene DOID:10907 microcephaly ISO RGD:1348305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8880309 Fcn3 ficolin 3 gene DOID:612 primary immunodeficiency disease ISO RGD:1348305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19535802 8880309 Fcn3 ficolin 3 gene DOID:630 genetic disease ISO RGD:1348305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8880309 Fcn3 ficolin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1348305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8880309 Fcn3 ficolin 3 gene DOID:9003220 Immunodeficiency due to Ficolin 3 Deficiency ISO RGD:1348305 D RGD:7240710 20180130 OMIM 8880309 Fcn3 ficolin 3 gene DOID:9003220 Immunodeficiency due to Ficolin 3 Deficiency ISO RGD:1348305 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to ficolin 3 deficiency | ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3 PMID:19535802|PMID:20971976|PMID:22226667|PMID:25662573|PMID:25741868|PMID:28492532 8880324 Aldh9a1 aldehyde dehydrogenase 9 family member A1 gene DOID:0080600 COVID-19 ISO RGD:68603 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8880324 Aldh9a1 aldehyde dehydrogenase 9 family member A1 gene DOID:10283 prostate cancer ISO RGD:68603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8880324 Aldh9a1 aldehyde dehydrogenase 9 family member A1 gene DOID:1540 parathyroid carcinoma ISO RGD:68603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8880324 Aldh9a1 aldehyde dehydrogenase 9 family member A1 gene DOID:630 genetic disease ISO RGD:68603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880324 Aldh9a1 aldehyde dehydrogenase 9 family member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8880324 Aldh9a1 aldehyde dehydrogenase 9 family member A1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:68603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8880345 Ints13 integrator complex subunit 13 gene DOID:630 genetic disease ISO RGD:1342865 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880345 Ints13 integrator complex subunit 13 gene DOID:9001341 Chloracne ISO RGD:1342865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8880364 Zfp90 ZFP90 zinc finger protein gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1350266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8880364 Zfp90 ZFP90 zinc finger protein gene DOID:630 genetic disease ISO RGD:1350266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880388 Acvr2b activin A receptor type 2B gene DOID:0050451 Brugada syndrome ISO RGD:737613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 8880388 Acvr2b activin A receptor type 2B gene DOID:0050545 visceral heterotaxy ISO RGD:737613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy 8880388 Acvr2b activin A receptor type 2B gene DOID:0060856 right atrial isomerism ISO RGD:10078 D RGD:9068941 20220825 MouseDO OMIM:208530 8880388 Acvr2b activin A receptor type 2B gene DOID:10591 pre-eclampsia ISO RGD:737613 D RGD:9068941 20230622 RGD protein:increased expression:placenta (human) PMID:27176145|REF_RGD_ID:329853749 8880388 Acvr2b activin A receptor type 2B gene DOID:12347 osteogenesis imperfecta treatment ISO RGD:10078 D RGD:9068941 20230622 RGD PMID:31419601|REF_RGD_ID:329853752 8880388 Acvr2b activin A receptor type 2B gene DOID:3525 middle cerebral artery infarction ISO RGD:10078 D RGD:9068941 20230615 RGD mRNA:increased expression:brain (mouse) PMID:33763412|REF_RGD_ID:329849104 8880388 Acvr2b activin A receptor type 2B gene DOID:5844 myocardial infarction ISO RGD:10078 D RGD:9068941 20230615 RGD mRNA:decreased expression:myocardium (mouse) PMID:32427381|REF_RGD_ID:329849118 8880388 Acvr2b activin A receptor type 2B gene DOID:630 genetic disease ISO RGD:737613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8880388 Acvr2b activin A receptor type 2B gene DOID:758 situs inversus ISO RGD:737613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9916847 8880388 Acvr2b activin A receptor type 2B gene DOID:9001436 Immunodeficiency 68 ISO RGD:737613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 8880388 Acvr2b activin A receptor type 2B gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:737613 D RGD:9068941 20230615 RGD mRNA, protein:increased expression:umbilical cord blood (human) PMID:27957679|REF_RGD_ID:329849106 8880388 Acvr2b activin A receptor type 2B gene DOID:9004205 Left-Right Axis Malformations ISO RGD:737613 D RGD:9068941 20230615 RGD DNA:missense mutation:exon 2:R40H (human) PMID:9916847|REF_RGD_ID:329849115 8880388 Acvr2b activin A receptor type 2B gene DOID:9004205 Left-Right Axis Malformations ISO RGD:737613 D RGD:9068941 20230615 RGD DNA:missense mutation:exon 2:c.119G>A,p.R40H (human) PMID:21864452|REF_RGD_ID:329849116 8880388 Acvr2b activin A receptor type 2B gene DOID:9004205 Left-Right Axis Malformations ISO RGD:737613 D RGD:9068941 20230622 RGD DNA:missense mutation:cds:p.R383C (human) PMID:30622330|REF_RGD_ID:329853750 8880388 Acvr2b activin A receptor type 2B gene DOID:9004283 Transplant Rejection treatment ISO RGD:737613 D RGD:9068941 20230427 RGD human construct in rat model PMID:27732750|REF_RGD_ID:329322881 8880388 Acvr2b activin A receptor type 2B gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:737613 D RGD:9068941 20230427 RGD human construct in rat model PMID:27732750|REF_RGD_ID:329322881 8880388 Acvr2b activin A receptor type 2B gene DOID:9007659 Anthracycline-induced Cardiotoxicity treatment ISO RGD:737613 D RGD:9068941 20230615 RGD human construct in mouse model PMID:30765322|REF_RGD_ID:329849112 8880388 Acvr2b activin A receptor type 2B gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10078 D RGD:9068941 20230615 RGD mRNA, protein:decreased expression:heart (mouse) PMID:30765322|REF_RGD_ID:329849112 8880388 Acvr2b activin A receptor type 2B gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:737613 D RGD:9068941 20230615 RGD human construct in mouse model PMID:30765322|REF_RGD_ID:329849112 8880388 Acvr2b activin A receptor type 2B gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:737613 D RGD:7240710 20180130 OMIM 8880388 Acvr2b activin A receptor type 2B gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:737613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:16199547|PMID:17576681|PMID:2049719|PMID:21864452|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30120289|PMID:30622330|PMID:9536098|PMID:9916847 8880409 Fcer1a Fc fragment of IgE receptor Ia gene DOID:0060500 drug allergy ISO RGD:736318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17125826|PMID:20485159 8880409 Fcer1a Fc fragment of IgE receptor Ia gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8880409 Fcer1a Fc fragment of IgE receptor Ia gene DOID:1540 parathyroid carcinoma ISO RGD:736318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8880409 Fcer1a Fc fragment of IgE receptor Ia gene DOID:1555 urticaria ISO RGD:736318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 8880409 Fcer1a Fc fragment of IgE receptor Ia gene DOID:2841 asthma ISO RGD:736318 D RGD:9068941 20200609 RGD Asthma symptoms persistent despite steroids PMID:21388666|REF_RGD_ID:5128711 8880409 Fcer1a Fc fragment of IgE receptor Ia gene DOID:2841 asthma severity ISO RGD:736318 D RGD:9068941 20200609 RGD Fatal asthma subjects PMID:20937062|REF_RGD_ID:5128717 8880409 Fcer1a Fc fragment of IgE receptor Ia gene DOID:4483 rhinitis ISO RGD:736318 D RGD:9068941 20200609 RGD PMID:20650300|REF_RGD_ID:5128714 8880409 Fcer1a Fc fragment of IgE receptor Ia gene DOID:630 genetic disease ISO RGD:736318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880409 Fcer1a Fc fragment of IgE receptor Ia gene DOID:9005236 Drug Eruptions ISO RGD:736318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 8880409 Fcer1a Fc fragment of IgE receptor Ia gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8880421 Ankar ankyrin and armadillo repeat containing gene DOID:0111944 immunodeficiency 31B ISO RGD:1603564 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 8880421 Ankar ankyrin and armadillo repeat containing gene DOID:630 genetic disease ISO RGD:1603564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880421 Ankar ankyrin and armadillo repeat containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8880456 Rab40b RAB40B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1313826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880456 Rab40b RAB40B, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8880470 Mpp3 MAGUK p55 scaffold protein 3 gene DOID:630 genetic disease ISO RGD:1343815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880492 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:0080446 developmental and epileptic encephalopathy 66 ISO RGD:1604046 D RGD:7240710 20190315 OMIM 8880492 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:0080446 developmental and epileptic encephalopathy 66 ISO RGD:1604046 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 | ClinVar Annotator: match by term: PACS2-related condition PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:32416568|PMID:32725632|PMID:33243487|PMID:34782754 8880492 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1604046 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:32416568|PMID:33243487|PMID:34782754 8880492 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1604046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8880492 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1604046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8880492 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:1059 intellectual disability ISO RGD:1604046 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:32416568|PMID:33243487|PMID:34782754|PMID:9536098 8880492 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:12849 autistic disorder ISO RGD:1604046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:28492532 8880492 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:1826 epilepsy ISO RGD:1604046 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Seizure PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:32416568|PMID:33243487|PMID:34782754 8880492 Pacs2 phosphofurin acidic cluster sorting protein 2 gene DOID:630 genetic disease ISO RGD:1604046 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:32416568|PMID:33243487|PMID:34782754 8880522 Scamp2 secretory carrier membrane protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:68490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8880522 Scamp2 secretory carrier membrane protein 2 gene DOID:2717 Bloom syndrome ISO RGD:68490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8880522 Scamp2 secretory carrier membrane protein 2 gene DOID:5419 schizophrenia ISO RGD:68490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8880522 Scamp2 secretory carrier membrane protein 2 gene DOID:630 genetic disease ISO RGD:68490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880522 Scamp2 secretory carrier membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:68490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8880539 Lonp2 lon peptidase 2, peroxisomal gene DOID:10283 prostate cancer ISO RGD:1605609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8880539 Lonp2 lon peptidase 2, peroxisomal gene DOID:630 genetic disease ISO RGD:1605609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880539 Lonp2 lon peptidase 2, peroxisomal gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32430360 8880539 Lonp2 lon peptidase 2, peroxisomal gene DOID:9006459 BURATTI-HAREL SYNDROME ISO RGD:1605609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Buratti-Harel syndrome PMID:25741868|PMID:32430360 8880568 Aimp1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:0060790 hypomyelinating leukodystrophy 3 ISO RGD:1344147 D RGD:7240710 20180130 OMIM 8880568 Aimp1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:0060790 hypomyelinating leukodystrophy 3 ISO RGD:1344147 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3 PMID:21092922|PMID:23806086|PMID:24088041|PMID:24958424|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30486714|PMID:30828585|PMID:30924036|PMID:31618474|PMID:32531460 8880568 Aimp1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:1289 neurodegenerative disease ISO RGD:620466 D RGD:9068941 20200609 RGD PMID:12429238|REF_RGD_ID:724676 8880568 Aimp1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:5844 myocardial infarction ISO RGD:620466 D RGD:9068941 20200609 RGD PMID:14732363|REF_RGD_ID:1580021 8880568 Aimp1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:630 genetic disease ISO RGD:1344147 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8880568 Aimp1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 8880586 Senp2 SUMO specific peptidase 2 gene DOID:0111546 Currarino syndrome ISO RGD:1351152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8880586 Senp2 SUMO specific peptidase 2 gene DOID:630 genetic disease ISO RGD:1351152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880586 Senp2 SUMO specific peptidase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29535048 8880586 Senp2 SUMO specific peptidase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351152 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29535048 8880619 Rtraf RNA transcription, translation and transport factor gene DOID:630 genetic disease ISO RGD:1312305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880631 Skp1 S-phase kinase associated protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8880631 Skp1 S-phase kinase associated protein 1 gene DOID:630 genetic disease ISO RGD:1347276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880631 Skp1 S-phase kinase associated protein 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1347276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 8880631 Skp1 S-phase kinase associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8880631 Skp1 S-phase kinase associated protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8880653 Cldn19 claudin 19 gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:1312766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive 8880653 Cldn19 claudin 19 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1312766 D RGD:7240710 20180130 OMIM 8880653 Cldn19 claudin 19 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1312766 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement PMID:17033971|PMID:18188451|PMID:22422540|PMID:23301036|PMID:25366522|PMID:25410674|PMID:25741868|PMID:27530400|PMID:28492532|PMID:28893421|PMID:33025205|PMID:33532864|PMID:34805638 8880653 Cldn19 claudin 19 gene DOID:0060882 renal hypomagnesemia 4 ISO RGD:1312766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive 8880653 Cldn19 claudin 19 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8880653 Cldn19 claudin 19 gene DOID:12679 nephrocalcinosis ISO RGD:1312766 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:25741868|PMID:28893421|PMID:33025205|PMID:34805638 8880653 Cldn19 claudin 19 gene DOID:630 genetic disease ISO RGD:1312766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8880676 Pank1 pantothenate kinase 1 gene DOID:630 genetic disease ISO RGD:1312259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880676 Pank1 pantothenate kinase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1312259 D RGD:9068941 20230907 CTD CTD Direct Evidence: therapeutic PMID:35589691 8880699 Clint1 clathrin interactor 1 gene DOID:630 genetic disease ISO RGD:1602726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880724 Plpp1 phospholipid phosphatase 1 gene DOID:630 genetic disease ISO RGD:1344834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880724 Plpp1 phospholipid phosphatase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8880724 Plpp1 phospholipid phosphatase 1 gene DOID:9000918 Disease Progression ISO RGD:1344834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8880724 Plpp1 phospholipid phosphatase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8880742 Sertad4 SERTA domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1351903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8880742 Sertad4 SERTA domain containing 4 gene DOID:630 genetic disease ISO RGD:1351903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880742 Sertad4 SERTA domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:0060041 autism spectrum disorder ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1343811 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1343811 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:10283 prostate cancer ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:1059 intellectual disability ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:11198 DiGeorge syndrome ISO RGD:1343811 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:11372 megacolon ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:12583 velocardiofacial syndrome ISO RGD:1343811 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:12849 autistic disorder ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:1826 epilepsy ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:2213 hemorrhagic disease ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:5419 schizophrenia ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:612 primary immunodeficiency disease ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:630 genetic disease ISO RGD:1343811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:9003871 Venous Thrombosis ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8880750 Dgcr6l DiGeorge syndrome critical region gene 6 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8880790 Il12a interleukin 12A gene DOID:12236 primary biliary cholangitis ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 8880790 Il12a interleukin 12A gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs6441286, rs574808(human) PMID:19458352|REF_RGD_ID:25440500 8880790 Il12a interleukin 12A gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNPs:enhancer:rs4679868, rs6441286, rs666251(human) PMID:27175695|REF_RGD_ID:25440489 8880790 Il12a interleukin 12A gene DOID:12236 primary biliary cholangitis treatment ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNP: :rs62270414(human) PMID:23433321|REF_RGD_ID:25440498 8880790 Il12a interleukin 12A gene DOID:12894 Sjogren's syndrome ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 8880790 Il12a interleukin 12A gene DOID:1883 hepatitis C disease_progression ISO RGD:1351047 D RGD:9068941 20200609 RGD associated with diabetes mellitus; PMID:30243010|REF_RGD_ID:25440502 8880790 Il12a interleukin 12A gene DOID:1883 hepatitis C susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR: rs568408( G>A)(human) PMID:27819525|REF_RGD_ID:25440490 8880790 Il12a interleukin 12A gene DOID:2377 multiple sclerosis ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 8880790 Il12a interleukin 12A gene DOID:2841 asthma ISO RGD:732140 D RGD:9068941 20200609 RGD PMID:17056578|PMID:17548618|REF_RGD_ID:4373570|REF_RGD_ID:4438438 8880790 Il12a interleukin 12A gene DOID:3070 high grade glioma ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18176109 8880790 Il12a interleukin 12A gene DOID:630 genetic disease ISO RGD:1351047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880790 Il12a interleukin 12A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR: rs568408( G>A)(human) PMID:20521253|REF_RGD_ID:25440491 8880790 Il12a interleukin 12A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD associated with hepatitis B; DNA:SNP, haplotype:3′UTR :rs568408(human) PMID:26631030|REF_RGD_ID:25440501 8880790 Il12a interleukin 12A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351047 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP:3'UTR: rs568408( G>A)(human) PMID:27819525|REF_RGD_ID:25440490 8880790 Il12a interleukin 12A gene DOID:9002170 Experimental Neoplasms ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17332360 8880790 Il12a interleukin 12A gene DOID:9002395 Hypothermia ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16369138 8880790 Il12a interleukin 12A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732140 D RGD:9068941 20200609 RGD PMID:12471147|REF_RGD_ID:724447 8880790 Il12a interleukin 12A gene DOID:9004009 Reperfusion Injury ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 8880790 Il12a interleukin 12A gene DOID:9007188 Liver Neoplasms ISO RGD:1351047 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17326190 8880790 Il12a interleukin 12A gene DOID:9008163 Chronic Hepatitis B ISO RGD:1351047 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:26062743|REF_RGD_ID:11097839 8880799 Ptpn7 protein tyrosine phosphatase non-receptor type 7 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8880799 Ptpn7 protein tyrosine phosphatase non-receptor type 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1605720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8880799 Ptpn7 protein tyrosine phosphatase non-receptor type 7 gene DOID:630 genetic disease ISO RGD:1605720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880799 Ptpn7 protein tyrosine phosphatase non-receptor type 7 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605720 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8880799 Ptpn7 protein tyrosine phosphatase non-receptor type 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8880824 Zmat2 zinc finger matrin-type 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1353598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8880824 Zmat2 zinc finger matrin-type 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8880824 Zmat2 zinc finger matrin-type 2 gene DOID:630 genetic disease ISO RGD:1353598 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880824 Zmat2 zinc finger matrin-type 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8880824 Zmat2 zinc finger matrin-type 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8880839 Plbd1 phospholipase B domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605619 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8880839 Plbd1 phospholipase B domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1605619 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8880839 Plbd1 phospholipase B domain containing 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 8880839 Plbd1 phospholipase B domain containing 1 gene DOID:630 genetic disease ISO RGD:1605619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880862 Klhdc4 kelch domain containing 4 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1322601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8880862 Klhdc4 kelch domain containing 4 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1322601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8880862 Klhdc4 kelch domain containing 4 gene DOID:14780 KBG syndrome ISO RGD:1322601 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8880862 Klhdc4 kelch domain containing 4 gene DOID:630 genetic disease ISO RGD:1322601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880862 Klhdc4 kelch domain containing 4 gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1322601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 8880862 Klhdc4 kelch domain containing 4 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1322601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8880886 Acvrl1 activin A receptor like type 1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:10079 D RGD:9068941 20220825 MouseDO OMIM:108010 8880886 Acvrl1 activin A receptor like type 1 gene DOID:0080600 COVID-19 ISO RGD:737253 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8880886 Acvrl1 activin A receptor like type 1 gene DOID:11294 arteriovenous malformation ISO RGD:10079 D RGD:9068941 20200609 RGD PMID:11062473|REF_RGD_ID:1300250 8880886 Acvrl1 activin A receptor like type 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:737253 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:16705692|PMID:21158752|PMID:25637381|PMID:25741868|PMID:26176610|PMID:28166811|PMID:28492532 8880886 Acvrl1 activin A receptor like type 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:737253 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:17576681|PMID:25741868|PMID:28492532|PMID:32165824|PMID:32573726|PMID:9536098 8880886 Acvrl1 activin A receptor like type 1 gene DOID:1588 thrombocytopenia ISO RGD:737253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:20501893|PMID:24033266|PMID:25741868|PMID:28492532 8880886 Acvrl1 activin A receptor like type 1 gene DOID:2213 hemorrhagic disease ISO RGD:737253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:20501893|PMID:24033266|PMID:25741868|PMID:28492532 8880886 Acvrl1 activin A receptor like type 1 gene DOID:224 transient cerebral ischemia ISO RGD:2029 D RGD:9068941 20200609 RGD PMID:15781474|REF_RGD_ID:1579751 8880886 Acvrl1 activin A receptor like type 1 gene DOID:5810 adenosine deaminase deficiency ISO RGD:737253 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency PMID:10187774|PMID:12114496|PMID:14684682|PMID:15880681|PMID:16429404|PMID:16706966|PMID:17786384|PMID:18285823|PMID:18498373|PMID:19508727|PMID:22377182|PMID:22553411|PMID:23722869|PMID:25326637|PMID:25741868|PMID:28492532|PMID:31400083|PMID:31450639|PMID:32503579|PMID:32573726|PMID:33919892|PMID:35628811|PMID:9245985 8880886 Acvrl1 activin A receptor like type 1 gene DOID:630 genetic disease ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880886 Acvrl1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension ISO RGD:2029 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17392319|REF_RGD_ID:1601116 8880886 Acvrl1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension ISO RGD:737253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26540443 8880886 Acvrl1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension disease_progression ISO RGD:737253 D RGD:9068941 20200609 RGD DNA:mutations (human) PMID:20056902|REF_RGD_ID:5128837 8880886 Acvrl1 activin A receptor like type 1 gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:737253 D RGD:9068941 20200609 RGD associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations PMID:14684682|REF_RGD_ID:1601117 8880886 Acvrl1 activin A receptor like type 1 gene DOID:9001227 Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related ISO RGD:737253 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PMID:10187774|PMID:10767348|PMID:11170071|PMID:11484689|PMID:12114496|PMID:12700602|PMID:12843319|PMID:14684682|PMID:15024723|PMID:15065824|PMID:15375013|PMID:15517393|PMID:15687131|PMID:15712271|PMID:15880681|PMID:16123970|PMID:16282348|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16540754|PMID:16542389|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16829353|PMID:17384219|PMID:17786384|PMID:18159113|PMID:18285823|PMID:18498373|PMID:18673552|PMID:19115559|PMID:19357124|PMID:19767588|PMID:20056902|PMID:20414677|PMID:20501893|PMID:20609011|PMID:21158752|PMID:21378382|PMID:21651515|PMID:22377182|PMID:22553411|PMID:22632830|PMID:22991266|PMID:23124896|PMID:23298310|PMID:23722869|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24196379|PMID:24603890|PMID:25318803|PMID:25326635|PMID:25741868|PMID:25970827|PMID:26176610|PMID:26387786|PMID:27316748|PMID:27587546|PMID:27613157|PMID:27869117|PMID:28492532|PMID:29449337|PMID:29631995|PMID:29650961|PMID:29743074|PMID:30260738|PMID:30303062|PMID:30578383|PMID:31019026|PMID:31400083|PMID:31455059|PMID:31511490|PMID:31630786|PMID:32300199|PMID:32503579|PMID:32573726|PMID:32581362|PMID:33201366|PMID:33919892|PMID:34008892|PMID:34872578|PMID:36993588|PMID:8640225|PMID:9245985 8880886 Acvrl1 activin A receptor like type 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:737253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:10767348|PMID:11484689|PMID:12114496|PMID:14684682|PMID:15024723|PMID:15517393|PMID:15687131|PMID:15880681|PMID:16429404|PMID:16470787|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:17786384|PMID:18159113|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19767588|PMID:20056902|PMID:20501893|PMID:21378382|PMID:22632830|PMID:23124896|PMID:23298310|PMID:23919827|PMID:24033266|PMID:24753439|PMID:25741868|PMID:25970827|PMID:26387786|PMID:27316748|PMID:27587546|PMID:28492532|PMID:29449337|PMID:29650961|PMID:29743074|PMID:30260738|PMID:30303062|PMID:30578383|PMID:31019026|PMID:32300199|PMID:32503579|PMID:32581362|PMID:32899377 8880886 Acvrl1 activin A receptor like type 1 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:737253 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 PMID:15024723|PMID:15065824|PMID:15517393|PMID:15712271|PMID:16282348|PMID:16429404|PMID:16470787|PMID:16540754|PMID:16705692|PMID:17219009|PMID:17384219|PMID:17576681|PMID:17786384|PMID:18673552|PMID:19767588|PMID:20414677|PMID:20501893|PMID:21158752|PMID:23722869|PMID:23919827|PMID:24196379|PMID:25741868|PMID:26176610|PMID:26387786|PMID:28492532|PMID:31220907|PMID:32300199|PMID:32503579|PMID:32573726|PMID:9536098 8880886 Acvrl1 activin A receptor like type 1 gene DOID:9004771 Vascular Remodeling ISO RGD:737253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26540443 8880886 Acvrl1 activin A receptor like type 1 gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:737253 D RGD:7240710 20180130 OMIM 8880886 Acvrl1 activin A receptor like type 1 gene DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 ISO RGD:737253 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type II PMID:10187774|PMID:10694922|PMID:10767348|PMID:10946360|PMID:11170071|PMID:11484689|PMID:11865300|PMID:12079393|PMID:12114496|PMID:12700602|PMID:12843319|PMID:14684682|PMID:15024723|PMID:15065824|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15521985|PMID:15687131|PMID:15712270|PMID:15712271|PMID:15879500|PMID:15880681|PMID:15993872|PMID:16123970|PMID:16199547|PMID:16282348|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16540754|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16829353|PMID:16861286|PMID:17219009|PMID:17384219|PMID:17425869|PMID:17576681|PMID:17786384|PMID:18159113|PMID:18285823|PMID:18312453|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19115559|PMID:19357124|PMID:19508727|PMID:19555857|PMID:19763152|PMID:19767588|PMID:20056902|PMID:20307669|PMID:20414677|PMID:20501893|PMID:20609011|PMID:21132305|PMID:21158752|PMID:21378382|PMID:21398687|PMID:21488239|PMID:21536610|PMID:21546842|PMID:22028876|PMID:22377182|PMID:22406018|PMID:22553411|PMID:22632830|PMID:22718755|PMID:22781769|PMID:22799562|PMID:22977237|PMID:22991266|PMID:23124896|PMID:23298310|PMID:23535011|PMID:23568730|PMID:23653583|PMID:23722869|PMID:23729109|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24055113|PMID:24196379|PMID:24603890|PMID:24753439|PMID:25312062|PMID:25318803|PMID:25326635|PMID:25326637|PMID:25557927|PMID:25637381|PMID:25741868|PMID:25778885|PMID:25970827|PMID:26176610|PMID:26245826|PMID:26387786|PMID:26401274|PMID:26986070|PMID:27077548|PMID:27081284|PMID:27291782|PMID:27316748|PMID:27587546|PMID:27613157|PMID:27630060|PMID:27869117|PMID:28166811|PMID:28492532|PMID:28655553|PMID:29171923|PMID:29398197|PMID:29449337|PMID:29515340|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29923633|PMID:30120215|PMID:30244195|PMID:30251589|PMID:30260738|PMID:30303062|PMID:30578383|PMID:30578397|PMID:31019026|PMID:31220907|PMID:31327192|PMID:31400083|PMID:31450639|PMID:31455059|PMID:31511490|PMID:31594285|PMID:31618753|PMID:31630786|PMID:31727138|PMID:31875044|PMID:32165824|PMID:32300199|PMID:32503579|PMID:32573726|PMID:32581362|PMID:32899377|PMID:33201366|PMID:33754658|PMID:33919892|PMID:34008892|PMID:34501220|PMID:34872578|PMID:34966542|PMID:35620871|PMID:35628811|PMID:36993588|PMID:6470589|PMID:8640225|PMID:9245985|PMID:9536098 8880886 Acvrl1 activin A receptor like type 1 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:737253 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 8880886 Acvrl1 activin A receptor like type 1 gene DOID:9008421 Epistaxis ISO RGD:737253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epistaxis PMID:11484689|PMID:15687131|PMID:16540754|PMID:17786384|PMID:18159113|PMID:18498373|PMID:20056902|PMID:20501893|PMID:21378382|PMID:22632830|PMID:23124896|PMID:23298310|PMID:23919827|PMID:25741868|PMID:26387786|PMID:27316748|PMID:28492532|PMID:30260738|PMID:32581362 8880886 Acvrl1 activin A receptor like type 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:737253 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:10767348|PMID:11484689|PMID:12114496|PMID:12700602|PMID:14684682|PMID:15024723|PMID:15517393|PMID:15687131|PMID:15712271|PMID:15879500|PMID:15880681|PMID:16429404|PMID:16470787|PMID:16540754|PMID:16542389|PMID:16690726|PMID:16705692|PMID:16752392|PMID:17384219|PMID:17786384|PMID:18159113|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19555857|PMID:19767588|PMID:20056902|PMID:20414677|PMID:20501893|PMID:21158752|PMID:21378382|PMID:22632830|PMID:22781769|PMID:23124896|PMID:23298310|PMID:23535011|PMID:23722869|PMID:23919827|PMID:24033266|PMID:24753439|PMID:25557927|PMID:25741868|PMID:25970827|PMID:26387786|PMID:27316748|PMID:27587546|PMID:28492532|PMID:28918311|PMID:29449337|PMID:29515340|PMID:29650961|PMID:29743074|PMID:30260738|PMID:30303062|PMID:30578383|PMID:31019026|PMID:31400083|PMID:31727138|PMID:32300199|PMID:32503579|PMID:32581362|PMID:32899377|PMID:34872578|PMID:9245985 8880910 Pcbd2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8880910 Pcbd2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:630 genetic disease ISO RGD:1353306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880910 Pcbd2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8880910 Pcbd2 pterin-4 alpha-carbinolamine dehydratase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353306 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8880918 Nacc1 nucleus accumbens associated 1 gene DOID:0050858 Marshall-Smith syndrome ISO RGD:732621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:20673863|PMID:23495138|PMID:25118028|PMID:25736188|PMID:26927468|PMID:27688808|PMID:28492532|PMID:29184170 8880918 Nacc1 nucleus accumbens associated 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:732621 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532|PMID:29184170 8880918 Nacc1 nucleus accumbens associated 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:732621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8880918 Nacc1 nucleus accumbens associated 1 gene DOID:0111254 glutaric acidemia I ISO RGD:732621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8880918 Nacc1 nucleus accumbens associated 1 gene DOID:1059 intellectual disability ISO RGD:732621 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 8880918 Nacc1 nucleus accumbens associated 1 gene DOID:10907 microcephaly ISO RGD:732621 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8880918 Nacc1 nucleus accumbens associated 1 gene DOID:14566 disease of cellular proliferation ISO RGD:732621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31101655 8880918 Nacc1 nucleus accumbens associated 1 gene DOID:3413 alpha-mannosidosis ISO RGD:732621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8880918 Nacc1 nucleus accumbens associated 1 gene DOID:630 genetic disease ISO RGD:732621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28132692|PMID:28492532|PMID:31618753 8880918 Nacc1 nucleus accumbens associated 1 gene DOID:9004290 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination ISO RGD:732621 D RGD:7240710 20190315 OMIM 8880918 Nacc1 nucleus accumbens associated 1 gene DOID:9004290 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination ISO RGD:732621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NACC1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination PMID:25741868|PMID:28132692|PMID:28492532 8880918 Nacc1 nucleus accumbens associated 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732621 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8880931 Bpifb1 BPI fold containing family B member 1 gene DOID:630 genetic disease ISO RGD:1343435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880958 Apold1 apolipoprotein L domain containing 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1604585 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8880958 Apold1 apolipoprotein L domain containing 1 gene DOID:630 genetic disease ISO RGD:1604585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880958 Apold1 apolipoprotein L domain containing 1 gene DOID:9008123 Bleeding Disorder, Vascular-Type ISO RGD:1604585 D RGD:7240710 20240221 OMIM 8880962 Asb3 ankyrin repeat and SOCS box containing 3 gene DOID:630 genetic disease ISO RGD:1318243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8880990 Rad21 RAD21 cohesin complex component gene DOID:0050866 oral squamous cell carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA:decreased expression:oral cavity (human) PMID:16416296|REF_RGD_ID:150520028 8880990 Rad21 RAD21 cohesin complex component gene DOID:0080199 colorectal carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA, protein:increased expression:colorectum (human) PMID:30546056|REF_RGD_ID:150520034 8880990 Rad21 RAD21 cohesin complex component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1317642 D RGD:7240710 20180130 OMIM 8880990 Rad21 RAD21 cohesin complex component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1317642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS | ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 | ClinVar Annotator: match by term: RAD21-related condition PMID:17576681|PMID:18414213|PMID:22633399|PMID:24378232|PMID:25326637|PMID:25741868|PMID:27620904|PMID:27882533|PMID:28492532|PMID:30125677|PMID:30158690|PMID:30716475|PMID:31173765|PMID:31334757|PMID:32193685|PMID:32696056|PMID:9536098 8880990 Rad21 RAD21 cohesin complex component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1317642 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS | ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 | ClinVar Annotator: match by term: RAD21-related condition PMID:17576681|PMID:18414213|PMID:22633399|PMID:24378232|PMID:25326637|PMID:25741868|PMID:27620904|PMID:27882533|PMID:28492532|PMID:30125677|PMID:30158690|PMID:30716475|PMID:31173765|PMID:31334757|PMID:32193685|PMID:32696056|PMID:33084842|PMID:9536098 8880990 Rad21 RAD21 cohesin complex component gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 8880990 Rad21 RAD21 cohesin complex component gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: De Lange syndrome 8880990 Rad21 RAD21 cohesin complex component gene DOID:1380 endometrial cancer onset ISO RGD:1317642 D RGD:9068941 20230427 RGD DNA:CNV: (human) PMID:25546926|REF_RGD_ID:329322876 8880990 Rad21 RAD21 cohesin complex component gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8880990 Rad21 RAD21 cohesin complex component gene DOID:206 hereditary multiple exostoses ISO RGD:1317642 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 8880990 Rad21 RAD21 cohesin complex component gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA:increased expression:lung (human) PMID:32178590|REF_RGD_ID:150520031 8880990 Rad21 RAD21 cohesin complex component gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1317642 D RGD:9068941 20211022 RGD DNA:SNP:intron: (rs1374297) (human) PMID:28977903|REF_RGD_ID:150520036 8880990 Rad21 RAD21 cohesin complex component gene DOID:630 genetic disease ISO RGD:1317642 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:22633399|PMID:24378232|PMID:25125236|PMID:25741868|PMID:27882533|PMID:28441377|PMID:28492532|PMID:31173765|PMID:9536098 8880990 Rad21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD mRNA:increased expression:liver (human) PMID:32596342|REF_RGD_ID:150520035 8880990 Rad21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1317642 D RGD:9068941 20211022 RGD protein:increased expression:liver (human) PMID:28434945|REF_RGD_ID:150520030 8880990 Rad21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1317642 D RGD:9068941 20211022 RGD associated with hepatitis c, liver cirrhosis;mRNA:increased expression:liver (human) PMID:30698808|REF_RGD_ID:150520029 8880990 Rad21 RAD21 cohesin complex component gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1317642 D RGD:9068941 20211022 RGD human cells in a mouse model PMID:33251678|REF_RGD_ID:150520026 8880990 Rad21 RAD21 cohesin complex component gene DOID:7474 malignant pleural mesothelioma ISO RGD:1317642 D RGD:9068941 20211022 RGD PMID:19380173|REF_RGD_ID:150520037 8880990 Rad21 RAD21 cohesin complex component gene DOID:8692 myeloid leukemia ISO RGD:1317642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 8880990 Rad21 RAD21 cohesin complex component gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1594529 D RGD:9068941 20230415 RGD PMID:33741460|REF_RGD_ID:243065262 8880990 Rad21 RAD21 cohesin complex component gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:1594529 D RGD:9068941 20230420 RGD PMID:36538854|REF_RGD_ID:243065265 8880990 Rad21 RAD21 cohesin complex component gene DOID:9003170 Mungan Syndrome ISO RGD:1317642 D RGD:7240710 20190315 OMIM 8880990 Rad21 RAD21 cohesin complex component gene DOID:9003170 Mungan Syndrome ISO RGD:1317642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mungan syndrome PMID:14638363|PMID:18414213|PMID:25575569|PMID:25741868|PMID:28492532 8880990 Rad21 RAD21 cohesin complex component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 8881044 Mrgbp MRG domain binding protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8881044 Mrgbp MRG domain binding protein gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1318486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8881044 Mrgbp MRG domain binding protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8881044 Mrgbp MRG domain binding protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8881044 Mrgbp MRG domain binding protein gene DOID:1826 epilepsy ISO RGD:1318486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 8881044 Mrgbp MRG domain binding protein gene DOID:630 genetic disease ISO RGD:1318486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881085 Itgad integrin subunit alpha D gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:731798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8881085 Itgad integrin subunit alpha D gene DOID:10283 prostate cancer ISO RGD:731798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8881085 Itgad integrin subunit alpha D gene DOID:630 genetic disease ISO RGD:731798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881137 Ola1 Obg like ATPase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1604016 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8881137 Ola1 Obg like ATPase 1 gene DOID:10283 prostate cancer ISO RGD:1604016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8881137 Ola1 Obg like ATPase 1 gene DOID:630 genetic disease ISO RGD:1604016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:0060041 autism spectrum disorder ISO RGD:69210 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:69210 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28774887|REF_RGD_ID:15045601 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:12351 alcoholic hepatitis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:13580 cholestasis ISO RGD:69210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449|PMID:9797378 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:13580 cholestasis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD PMID:29655695|REF_RGD_ID:15090803 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:13619 extrahepatic cholestasis ISO RGD:2482 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, nucleus (rat) PMID:28660384|REF_RGD_ID:21203516 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:630 genetic disease ISO RGD:69210 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:9000808 Hypercholesterolemia ISO RGD:2482 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:16472823|REF_RGD_ID:13782194 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:9000808 Hypercholesterolemia ISO RGD:69210 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8245718 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2482 D RGD:9068941 20200609 RGD PMID:15521018|REF_RGD_ID:15045602 8881152 LOC102008593 cholesterol 7-alpha-monooxygenase gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:10458 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8881173 Fstl5 follistatin like 5 gene DOID:3312 bipolar disorder ISO RGD:1315715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8881173 Fstl5 follistatin like 5 gene DOID:630 genetic disease ISO RGD:1315715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881196 Slc7a6 solute carrier family 7 member 6 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1319397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8881196 Slc7a6 solute carrier family 7 member 6 gene DOID:630 genetic disease ISO RGD:1319397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881211 Apbb1ip amyloid beta precursor protein binding family B member 1 interacting protein gene DOID:630 genetic disease ISO RGD:1312445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881211 Apbb1ip amyloid beta precursor protein binding family B member 1 interacting protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8881228 Zscan10 zinc finger and SCAN domain containing 10 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8881228 Zscan10 zinc finger and SCAN domain containing 10 gene DOID:10003 sensorineural hearing loss ISO RGD:1321829 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8881228 Zscan10 zinc finger and SCAN domain containing 10 gene DOID:1826 epilepsy ISO RGD:1321829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8881228 Zscan10 zinc finger and SCAN domain containing 10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8881228 Zscan10 zinc finger and SCAN domain containing 10 gene DOID:630 genetic disease ISO RGD:1321829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881236 Sult2b1 sulfotransferase family 2B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318906 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8881236 Sult2b1 sulfotransferase family 2B member 1 gene DOID:0060656 autosomal recessive congenital ichthyosis 1 ISO RGD:1318906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 PMID:28575648 8881236 Sult2b1 sulfotransferase family 2B member 1 gene DOID:0060710 autosomal recessive congenital ichthyosis 2 ISO RGD:1318906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 PMID:17496163|PMID:28575648 8881236 Sult2b1 sulfotransferase family 2B member 1 gene DOID:0080258 autosomal recessive congenital ichthyosis 14 ISO RGD:1318906 D RGD:7240710 20190315 OMIM 8881236 Sult2b1 sulfotransferase family 2B member 1 gene DOID:0080258 autosomal recessive congenital ichthyosis 14 ISO RGD:1318906 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14 PMID:17496163|PMID:25741868|PMID:28492532|PMID:28575648 8881236 Sult2b1 sulfotransferase family 2B member 1 gene DOID:13580 cholestasis ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27052460 8881236 Sult2b1 sulfotransferase family 2B member 1 gene DOID:630 genetic disease ISO RGD:1318906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8881236 Sult2b1 sulfotransferase family 2B member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 8881236 Sult2b1 sulfotransferase family 2B member 1 gene DOID:9005372 Inflammation ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27052460 8881236 Sult2b1 sulfotransferase family 2B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27052460 8881236 Sult2b1 sulfotransferase family 2B member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25437045 8881236 Sult2b1 sulfotransferase family 2B member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29766219 8881266 Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:1826 epilepsy ISO RGD:1349384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 8881266 Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1349384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8881266 Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8881266 Dnajc7 DnaJ heat shock protein family (Hsp40) member C7 gene DOID:630 genetic disease ISO RGD:1349384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881290 Hecw1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8881290 Hecw1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1352203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881327 Cog3 component of oligomeric golgi complex 3 gene DOID:630 genetic disease ISO RGD:1312059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881327 Cog3 component of oligomeric golgi complex 3 gene DOID:9006729 Congenital Disorder of Glycosylation Type IIbb ISO RGD:1312059 D RGD:7240710 20231025 OMIM 8881327 Cog3 component of oligomeric golgi complex 3 gene DOID:9006729 Congenital Disorder of Glycosylation Type IIbb ISO RGD:1312059 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIbb PMID:37711075 8881358 Trim9 tripartite motif containing 9 gene DOID:630 genetic disease ISO RGD:736868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881396 Tspan17 tetraspanin 17 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8881396 Tspan17 tetraspanin 17 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1346680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8881396 Tspan17 tetraspanin 17 gene DOID:14748 Sotos syndrome ISO RGD:1346680 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8881396 Tspan17 tetraspanin 17 gene DOID:630 genetic disease ISO RGD:1346680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881396 Tspan17 tetraspanin 17 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1346680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8881396 Tspan17 tetraspanin 17 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1346680 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8881412 Lipc lipase C, hepatic type gene DOID:0110741 type 1 diabetes mellitus 2 ISO RGD:736877 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782 8881412 Lipc lipase C, hepatic type gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:736877 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:32041611|PMID:8123642|PMID:8732782 8881412 Lipc lipase C, hepatic type gene DOID:10652 Alzheimer's disease ISO RGD:736877 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6084 (human) PMID:17175070|REF_RGD_ID:1600644 8881412 Lipc lipase C, hepatic type gene DOID:10652 Alzheimer's disease no_association ISO RGD:736877 D RGD:9068941 20200609 RGD DNA:SNPs: :rs6074, rs6083, rs6084 (human) PMID:17175070|REF_RGD_ID:1600644 8881412 Lipc lipase C, hepatic type gene DOID:1168 familial hyperlipidemia ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:12935429|REF_RGD_ID:1581787 8881412 Lipc lipase C, hepatic type gene DOID:1168 familial hyperlipidemia ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1883393 8881412 Lipc lipase C, hepatic type gene DOID:11801 protein-energy malnutrition ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:7666262|REF_RGD_ID:2308792 8881412 Lipc lipase C, hepatic type gene DOID:1184 nephrotic syndrome ISO RGD:3009 D RGD:9068941 20200609 RGD protein, mRNA:reduced expression:liver (rat) PMID:9186885|REF_RGD_ID:2308789 8881412 Lipc lipase C, hepatic type gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:serum (rat) PMID:14531811|REF_RGD_ID:2308781 8881412 Lipc lipase C, hepatic type gene DOID:13809 familial combined hyperlipidemia ISO RGD:736877 D RGD:9068941 20200609 RGD PMID:16338252|REF_RGD_ID:1580512 8881412 Lipc lipase C, hepatic type gene DOID:1459 hypothyroidism ISO RGD:3009 D RGD:9068941 20200609 RGD mRNA, protein:reduced expression:hepatocyte, extracellular space (rat) PMID:9106496|REF_RGD_ID:2308790 8881412 Lipc lipase C, hepatic type gene DOID:1459 hypothyroidism ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:12841343|REF_RGD_ID:2308783 8881412 Lipc lipase C, hepatic type gene DOID:2018 hyperinsulinism ISO RGD:3009 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) PMID:7047662|REF_RGD_ID:2308800 8881412 Lipc lipase C, hepatic type gene DOID:2018 hyperinsulinism ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) PMID:11095452|PMID:1592086|REF_RGD_ID:2308794|REF_RGD_ID:2308844 8881412 Lipc lipase C, hepatic type gene DOID:2237 hepatitis ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:7078435|REF_RGD_ID:2308799 8881412 Lipc lipase C, hepatic type gene DOID:2717 Bloom syndrome ISO RGD:736877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8881412 Lipc lipase C, hepatic type gene DOID:3146 lipid metabolism disorder ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292318|PMID:1671786|PMID:1883393 8881412 Lipc lipase C, hepatic type gene DOID:326 ischemia ISO RGD:3009 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:1918876|REF_RGD_ID:2308796 8881412 Lipc lipase C, hepatic type gene DOID:3393 coronary artery disease ISO RGD:736877 D RGD:9068941 20200609 RGD 250G/A PMID:15099346|REF_RGD_ID:1600663 8881412 Lipc lipase C, hepatic type gene DOID:3393 coronary artery disease ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-480C>T (human) PMID:11916946|REF_RGD_ID:2308839 8881412 Lipc lipase C, hepatic type gene DOID:3393 coronary artery disease no_association ISO RGD:736877 D RGD:9068941 20200609 RGD C514T PMID:12689525|REF_RGD_ID:1600664 8881412 Lipc lipase C, hepatic type gene DOID:3393 coronary artery disease susceptibility ISO RGD:736877 D RGD:9068941 20230629 RGD DNA:SNP,haplotypes: (rs17269397)A>G (human) PMID:33004870|REF_RGD_ID:329901841 8881412 Lipc lipase C, hepatic type gene DOID:341 peripheral vascular disease ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-250G>A (human) PMID:18413186|REF_RGD_ID:2308822 8881412 Lipc lipase C, hepatic type gene DOID:557 kidney disease resistance ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-514C>T (human) PMID:16928730|REF_RGD_ID:2308823 8881412 Lipc lipase C, hepatic type gene DOID:557 kidney disease susceptibility ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-514C>T (human) PMID:15983323|REF_RGD_ID:2308828 8881412 Lipc lipase C, hepatic type gene DOID:630 genetic disease ISO RGD:736877 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532|PMID:29084231 8881412 Lipc lipase C, hepatic type gene DOID:783 end stage renal disease ISO RGD:3009 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:hepatocytes, liver (rat) PMID:8636395|REF_RGD_ID:2308788 8881412 Lipc lipase C, hepatic type gene DOID:9000528 Coronary Disease susceptibility ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human) PMID:16570154|REF_RGD_ID:2308824 8881412 Lipc lipase C, hepatic type gene DOID:9000808 Hypercholesterolemia ISO RGD:10871 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse) PMID:11279518|REF_RGD_ID:2308841 8881412 Lipc lipase C, hepatic type gene DOID:9000808 Hypercholesterolemia ISO RGD:3009 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:plasma, liver (rat) PMID:7830494|REF_RGD_ID:2308793 8881412 Lipc lipase C, hepatic type gene DOID:9000808 Hypercholesterolemia ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; protein:decreased expression:plasma (human) PMID:6340423|REF_RGD_ID:2308850 8881412 Lipc lipase C, hepatic type gene DOID:9001542 Albuminuria ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) PMID:8666151|REF_RGD_ID:2308836 8881412 Lipc lipase C, hepatic type gene DOID:9002427 Fetal Macrosomia ISO RGD:3009 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat) PMID:10600655|REF_RGD_ID:2308786 8881412 Lipc lipase C, hepatic type gene DOID:9002513 Hypoproteinemia ISO RGD:3009 D RGD:9068941 20200609 RGD protein:reduced expression:plasma (rat) PMID:10844597|REF_RGD_ID:2308785 8881412 Lipc lipase C, hepatic type gene DOID:9003370 Dyslipidemias ISO RGD:736877 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Dyslipidemia 8881412 Lipc lipase C, hepatic type gene DOID:9004484 Sepsis ISO RGD:3009 D RGD:9068941 20200609 RGD protein:decreased expression:diaphragm, heart, adipose tissue (rat) PMID:2113037|REF_RGD_ID:2308797 8881412 Lipc lipase C, hepatic type gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 8881412 Lipc lipase C, hepatic type gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3009 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:1868959|PMID:18758746|REF_RGD_ID:2307432|REF_RGD_ID:2308849 8881412 Lipc lipase C, hepatic type gene DOID:9006599 Hypertriglyceridemia ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) PMID:187516|REF_RGD_ID:2308846 8881412 Lipc lipase C, hepatic type gene DOID:9007137 Hepatic Lipase Deficiency ISO RGD:736877 D RGD:7240710 20180130 OMIM 8881412 Lipc lipase C, hepatic type gene DOID:9007137 Hepatic Lipase Deficiency ISO RGD:736877 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hepatic lipase deficiency | ClinVar Annotator: match by term: LIPC DEFICIENCY PMID:10729390|PMID:12777476|PMID:1671786|PMID:17576681|PMID:1883393|PMID:19088157|PMID:21130455|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25361584|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:28951076|PMID:30333156|PMID:33339817|PMID:34662886|PMID:8123642|PMID:8732782|PMID:9536098 8881412 Lipc lipase C, hepatic type gene DOID:9007279 Type 2 Diabetes Mellitus 1 ISO RGD:736877 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782 8881412 Lipc lipase C, hepatic type gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:3009 D RGD:9068941 20230831 RGD mRNA:decreased expression:liver (rat) PMID:28959666|REF_RGD_ID:401794432 8881412 Lipc lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:3009 D RGD:9068941 20200609 RGD associated with Nephrosis; protein:decreased expression:plasma (rat) PMID:6480830|REF_RGD_ID:2308798 8881412 Lipc lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18160998 8881412 Lipc lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human) PMID:11427226|REF_RGD_ID:2308834 8881412 Lipc lipase C, hepatic type gene DOID:9007571 Hyperlipoproteinemias ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human) PMID:15941898|REF_RGD_ID:2308829 8881412 Lipc lipase C, hepatic type gene DOID:9007692 Insulin Resistance ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15504970 8881412 Lipc lipase C, hepatic type gene DOID:9009039 Hyperemia ISO RGD:736877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330034 8881412 Lipc lipase C, hepatic type gene DOID:9256 colorectal cancer ISO RGD:736877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8881412 Lipc lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736877 D RGD:7240710 20180130 OMIM 8881412 Lipc lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus ISO RGD:736877 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12777476|PMID:1671786|PMID:18364377|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:32041611|PMID:8123642|PMID:8732782 8881412 Lipc lipase C, hepatic type gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736877 D RGD:9068941 20200609 RGD DNA:transition:promoter:-250G>A (human) PMID:15656877|REF_RGD_ID:2308830 8881412 Lipc lipase C, hepatic type gene DOID:9744 type 1 diabetes mellitus ISO RGD:736877 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:9580247|REF_RGD_ID:2308845 8881412 Lipc lipase C, hepatic type gene DOID:9970 obesity ISO RGD:3009 D RGD:9068941 20200609 RGD protein:altered expression:liver, plasma (rat) PMID:11544558|REF_RGD_ID:2308784 8881412 Lipc lipase C, hepatic type gene DOID:9970 obesity ISO RGD:736877 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) PMID:12843191|REF_RGD_ID:2308835 8881448 Chmp7 charged multivesicular body protein 7 gene DOID:630 genetic disease ISO RGD:1602310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881448 Chmp7 charged multivesicular body protein 7 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1602310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8881476 Ceacam20 CEA cell adhesion molecule 20 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1601830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8881476 Ceacam20 CEA cell adhesion molecule 20 gene DOID:5050 Ehrlich tumor carcinoma ISO RGD:1601830 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34605108 8881476 Ceacam20 CEA cell adhesion molecule 20 gene DOID:630 genetic disease ISO RGD:1601830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:0090066 Fanconi-like syndrome ISO RGD:1557108 D RGD:9068941 20220825 MouseDO OMIM:227850 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:0111092 Fanconi anemia complementation group P ISO RGD:1347724 D RGD:7240710 20180130 OMIM 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:0111092 Fanconi anemia complementation group P ISO RGD:1347724 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group P PMID:17576681|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:36916425|PMID:9536098 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:21240277|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:25741868|PMID:26201965|PMID:28202063|PMID:28492532|PMID:28678401|PMID:30613976|PMID:32546565|PMID:33606809 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:10907 microcephaly ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29607586|PMID:29868112|PMID:29915322|PMID:30306255|PMID:30613976|PMID:31300551|PMID:32368696|PMID:33270637|PMID:9536098 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33606809|PMID:9536098 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24037726|PMID:24733792|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:33606809|PMID:9536098 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:13636 Fanconi anemia ISO RGD:1347724 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19596235|PMID:19596236|PMID:21240275|PMID:21240277|PMID:21805310|PMID:22383991|PMID:22401137|PMID:2291166|PMID:22911665|PMID:23211700|PMID:23840564|PMID:23994477|PMID:24037726|PMID:24733792|PMID:24763404|PMID:25288723|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26201965|PMID:26689913|PMID:26824983|PMID:27153395|PMID:27913932|PMID:28125078|PMID:28202063|PMID:28492532|PMID:28678401|PMID:29146900|PMID:29344583|PMID:29607586|PMID:29641532|PMID:29868112|PMID:29891941|PMID:29915322|PMID:30268473|PMID:30306255|PMID:30613976|PMID:30995915|PMID:31300551|PMID:31469826|PMID:32368696|PMID:32546565|PMID:33270637|PMID:33558524|PMID:33606809|PMID:36916425|PMID:9536098 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:1612 breast cancer ISO RGD:1347724 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:22401137|PMID:22911665|PMID:23211700|PMID:23840564|PMID:25741868|PMID:26201965|PMID:28202063|PMID:28492532 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:1826 epilepsy ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347724 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1347724 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:3068 glioblastoma ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma multiforme PMID:25741868 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:630 genetic disease ISO RGD:1347724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:687 hepatoblastoma ISO RGD:1347724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8881492 Slx4 SLX4 structure-specific endonuclease subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 8881541 Txnrd3 thioredoxin reductase 3 gene DOID:0050700 cardiomyopathy ISO RGD:1318088 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36421005 8881541 Txnrd3 thioredoxin reductase 3 gene DOID:0050860 colorectal adenoma ISO RGD:1318088 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 8881541 Txnrd3 thioredoxin reductase 3 gene DOID:0080199 colorectal carcinoma ISO RGD:1318088 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 8881541 Txnrd3 thioredoxin reductase 3 gene DOID:630 genetic disease ISO RGD:1318088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881541 Txnrd3 thioredoxin reductase 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8881541 Txnrd3 thioredoxin reductase 3 gene DOID:9270 alkaptonuria ISO RGD:1318088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8881578 Pax6 paired box 6 gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:11059 D RGD:9068941 20200609 RGD DNA:snp:cds:pN64K (mouse) PMID:19345209|REF_RGD_ID:8551891 8881578 Pax6 paired box 6 gene DOID:0060648 anterior segment dysgenesis ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:24281366|PMID:32499604 8881578 Pax6 paired box 6 gene DOID:0060673 Peters anomaly ISO RGD:737459 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:10234503|PMID:12015275|PMID:12552561|PMID:12634864|PMID:12721955|PMID:12868034|PMID:15086958|PMID:15579687|PMID:16199547|PMID:17417613|PMID:18483559|PMID:18776953|PMID:20577777|PMID:22361317|PMID:22692063|PMID:24281366|PMID:25741868|PMID:26604670|PMID:26661695|PMID:28321846|PMID:28488383|PMID:28492532|PMID:31161946|PMID:32499604|PMID:8364574|PMID:9727514|PMID:9792406 8881578 Pax6 paired box 6 gene DOID:0070530 foveal hypoplasia 1 ISO RGD:737459 D RGD:7240710 20180130 OMIM 8881578 Pax6 paired box 6 gene DOID:0070530 foveal hypoplasia 1 ISO RGD:737459 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome PMID:10234503|PMID:10441571|PMID:12634864|PMID:12868034|PMID:14744876|PMID:15086958|PMID:15629294|PMID:16407227|PMID:17417613|PMID:18332330|PMID:18483559|PMID:18776953|PMID:22361317|PMID:22692063|PMID:23404109|PMID:25741868|PMID:26604670|PMID:26661695|PMID:27013732|PMID:28321846|PMID:28492532|PMID:31161946|PMID:32360764|PMID:8364574|PMID:8640214|PMID:9727514|PMID:9931324 8881578 Pax6 paired box 6 gene DOID:0070532 aniridia 1 ISO RGD:737459 D RGD:7240710 20180130 OMIM 8881578 Pax6 paired box 6 gene DOID:0070532 aniridia 1 ISO RGD:737459 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aniridia 1 | ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy PMID:10234503|PMID:10477494|PMID:10694925|PMID:10737978|PMID:10887930|PMID:11284764|PMID:11309364|PMID:11431688|PMID:11479730|PMID:11553050|PMID:11826019|PMID:12015275|PMID:12388550|PMID:1251879|PMID:12552561|PMID:12634864|PMID:12721955|PMID:12731001|PMID:12782766|PMID:12868034|PMID:1302030|PMID:1345175|PMID:14561779|PMID:14744876|PMID:15020706|PMID:15086958|PMID:15150775|PMID:15579687|PMID:15846561|PMID:15889018|PMID:16098226|PMID:16199547|PMID:16493447|PMID:16617299|PMID:16712695|PMID:16785853|PMID:16803629|PMID:1684738|PMID:17148041|PMID:17406642|PMID:17417613|PMID:17568989|PMID:17576681|PMID:17595013|PMID:17630404|PMID:17893655|PMID:18241071|PMID:18332330|PMID:18483559|PMID:18776953|PMID:19218613|PMID:1954207|PMID:19862335|PMID:19876904|PMID:19898691|PMID:20054790|PMID:20577777|PMID:2080308|PMID:21397818|PMID:21423868|PMID:21848007|PMID:21850189|PMID:22171686|PMID:22361317|PMID:22393275|PMID:22509105|PMID:22692063|PMID:22893676|PMID:23404109|PMID:23517654|PMID:23734086|PMID:23761016|PMID:23942204|PMID:24138039|PMID:24266705|PMID:24281366|PMID:24390526|PMID:24623969|PMID:24737507|PMID:25678763|PMID:25741868|PMID:26535646|PMID:26604670|PMID:26661695|PMID:26694549|PMID:26849621|PMID:27013732|PMID:27081502|PMID:27081561|PMID:27124303|PMID:27307692|PMID:27381094|PMID:27431685|PMID:27455012|PMID:27463523|PMID:27878435|PMID:28231309|PMID:28321846|PMID:28488383|PMID:28492532|PMID:28559085|PMID:29145603|PMID:29217025|PMID:29618921|PMID:29780932|PMID:29914532|PMID:30167917|PMID:30291432|PMID:30315214|PMID:30986449|PMID:31161946|PMID:31700164|PMID:32080308|PMID:32214788|PMID:32360764|PMID:32467297|PMID:32857266|PMID:32860008|PMID:32883240|PMID:33169869|PMID:34101622|PMID:34174135|PMID:34415986|PMID:6988567|PMID:7550230|PMID:7666404|PMID:7951315|PMID:8111279|PMID:8111379|PMID:8364574|PMID:8640214|PMID:8689689|PMID:9138149|PMID:9279758|PMID:9281415|PMID:9452088|PMID:9482572|PMID:9536098|PMID:9727514|PMID:9792406|PMID:9931324 8881578 Pax6 paired box 6 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:737459 D RGD:7240710 20200226 OMIM 8881578 Pax6 paired box 6 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:737459 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE PMID:10234503|PMID:10441571|PMID:12015275|PMID:1251879|PMID:12634864|PMID:12721955|PMID:12868034|PMID:14561779|PMID:15086958|PMID:15579687|PMID:16199547|PMID:1684738|PMID:17417613|PMID:18483559|PMID:18776953|PMID:1954207|PMID:20577777|PMID:22361317|PMID:22692063|PMID:25741868|PMID:26604670|PMID:26661695|PMID:28321846|PMID:28488383|PMID:28492532|PMID:31161946|PMID:6988567|PMID:8364574|PMID:9727514|PMID:9792406 8881578 Pax6 paired box 6 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14630904 8881578 Pax6 paired box 6 gene DOID:0110233 cataract 27 ISO RGD:737459 D RGD:9068941 20200609 RGD associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) PMID:22393272|REF_RGD_ID:8552277 8881578 Pax6 paired box 6 gene DOID:0111383 autosomal dominant keratitis ISO RGD:737459 D RGD:7240710 20180130 OMIM 8881578 Pax6 paired box 6 gene DOID:0111383 autosomal dominant keratitis ISO RGD:737459 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: Dominantly inherited keratitis | ClinVar Annotator: match by term: Keratitis, hereditary PMID:10234503|PMID:12634864|PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18483559|PMID:18776953|PMID:22692063|PMID:25741868|PMID:26604670|PMID:26661695|PMID:28321846|PMID:28492532|PMID:31161946|PMID:7627897|PMID:7668281|PMID:9727514 8881578 Pax6 paired box 6 gene DOID:0111531 bilateral optic nerve hypoplasia ISO RGD:737459 D RGD:7240710 20180130 OMIM 8881578 Pax6 paired box 6 gene DOID:0111531 bilateral optic nerve hypoplasia ISO RGD:737459 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral PMID:10234503|PMID:12634864|PMID:12721955|PMID:18483559|PMID:22692063|PMID:25741868|PMID:26661695|PMID:28321846|PMID:28488383|PMID:28492532 8881578 Pax6 paired box 6 gene DOID:0111578 Gillespie syndrome ISO RGD:737459 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gillespie syndrome PMID:25741868|PMID:26899008 8881578 Pax6 paired box 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9727514 8881578 Pax6 paired box 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:26893459|PMID:28492532|PMID:9727514 8881578 Pax6 paired box 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:26893459|PMID:28492532|PMID:31161946|PMID:9727514 8881578 Pax6 paired box 6 gene DOID:1059 intellectual disability ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8881578 Pax6 paired box 6 gene DOID:10603 glucose intolerance ISO RGD:737459 D RGD:9068941 20200609 RGD associated with Aniridia;DNA:nonsense mutation:cds:p.R240X (human) PMID:19034419|REF_RGD_ID:2308929 8881578 Pax6 paired box 6 gene DOID:10629 microphthalmia ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:28492532|PMID:29178648|PMID:9727514 8881578 Pax6 paired box 6 gene DOID:10629 microphthalmia ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:28492532|PMID:29178648|PMID:31161946|PMID:9727514 8881578 Pax6 paired box 6 gene DOID:1068 juvenile glaucoma ISO RGD:11059 D RGD:9068941 20220825 MouseDO 8881578 Pax6 paired box 6 gene DOID:11975 coloboma of optic nerve ISO RGD:737459 D RGD:7240710 20180130 OMIM 8881578 Pax6 paired box 6 gene DOID:11975 coloboma of optic nerve ISO RGD:737459 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Coloboma of optic nerve | ClinVar Annotator: match by term: Congenital coloboma of the optic nerve PMID:10234503|PMID:12634864|PMID:12721955|PMID:18483559|PMID:22692063|PMID:25741868|PMID:26661695|PMID:28321846|PMID:28492532 8881578 Pax6 paired box 6 gene DOID:12270 coloboma ISO RGD:737459 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Coloboma | ClinVar Annotator: match by term: Coloboma, ocular, autosomal dominant | ClinVar Annotator: match by term: Congenital ocular coloboma PMID:10234503|PMID:12634864|PMID:12721955|PMID:18483559|PMID:22692063|PMID:25741868|PMID:26661695|PMID:28321846|PMID:28492532 8881578 Pax6 paired box 6 gene DOID:12271 aniridia ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aniridia, atypical | ClinVar Annotator: match by term: Congenital aniridia PMID:14744876|PMID:17417613|PMID:18776953|PMID:25741868|PMID:27013732|PMID:28492532|PMID:9931324 8881578 Pax6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human) PMID:23734086|REF_RGD_ID:8551856 8881578 Pax6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:deletion:cds:p.Q297HfsX68 (human) PMID:22171157|REF_RGD_ID:8551859 8881578 Pax6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:deletion:cds:p.R38PfsX12 (human) PMID:20664694|REF_RGD_ID:8551858 8881578 Pax6 paired box 6 gene DOID:12271 aniridia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds:p.R240X (human) PMID:22815628|REF_RGD_ID:8551860 8881578 Pax6 paired box 6 gene DOID:1229 paranoid schizophrenia ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:repeats:promoter: (human) PMID:10376119|REF_RGD_ID:1358554 8881578 Pax6 paired box 6 gene DOID:12849 autistic disorder ISO RGD:3258 D RGD:9068941 20200609 RGD PMID:21203536|REF_RGD_ID:8552339 8881578 Pax6 paired box 6 gene DOID:12849 autistic disorder ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18322702 8881578 Pax6 paired box 6 gene DOID:14515 WAGR syndrome ISO RGD:737459 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:10234503|PMID:12634864|PMID:12868034|PMID:15086958|PMID:17417613|PMID:18483559|PMID:18776953|PMID:22692063|PMID:25741868|PMID:26604670|PMID:26661695|PMID:28321846|PMID:28492532|PMID:31161946|PMID:9727514 8881578 Pax6 paired box 6 gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:3258 D RGD:9068941 20200609 RGD protein:altered expression:embryo, forebrain, hindbrain (rat) PMID:10564872|REF_RGD_ID:8552380 8881578 Pax6 paired box 6 gene DOID:1891 optic nerve disease ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721955 8881578 Pax6 paired box 6 gene DOID:1909 melanoma ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8881578 Pax6 paired box 6 gene DOID:224 transient cerebral ischemia ISO RGD:3258 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, striatum, astroglial cell (rat) PMID:24114637|REF_RGD_ID:8552354 8881578 Pax6 paired box 6 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737459 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct (human) PMID:17849422|REF_RGD_ID:8552381 8881578 Pax6 paired box 6 gene DOID:3764 Denys-Drash syndrome ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:15150775|PMID:17630404|PMID:24138039|PMID:26661695|PMID:27124303|PMID:28492532 8881578 Pax6 paired box 6 gene DOID:630 genetic disease ISO RGD:737459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12634864|PMID:25741868|PMID:28321846|PMID:28492532|PMID:28760551|PMID:32360764|PMID:34065151 8881578 Pax6 paired box 6 gene DOID:83 cataract ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549|PMID:29178648 8881578 Pax6 paired box 6 gene DOID:9000217 Stomach Neoplasms ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8881578 Pax6 paired box 6 gene DOID:9001098 Optic Nerve Aplasia, Bilateral ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic nerve aplasia, bilateral PMID:12721955 8881578 Pax6 paired box 6 gene DOID:9001575 IRIS COLOBOMA ISO RGD:737459 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:25741868 8881578 Pax6 paired box 6 gene DOID:9002049 Anophthalmia ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia 8881578 Pax6 paired box 6 gene DOID:9002189 High Myopia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:snp, haplotype:3' utr:c.*2160G>A (rs12421026) (human) PMID:21589860|REF_RGD_ID:8552263 8881578 Pax6 paired box 6 gene DOID:9002189 High Myopia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS11+393C>A (rs644242) (human) PMID:23213273|REF_RGD_ID:8552307 8881578 Pax6 paired box 6 gene DOID:9002189 High Myopia susceptibility ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:snps:intron:IVS13+43T>G, IVS13-1101A>G (rs3026393, rs3026390) (human) PMID:19124844|REF_RGD_ID:8552290 8881578 Pax6 paired box 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8881578 Pax6 paired box 6 gene DOID:9003133 Hypertelorism ISO RGD:737459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11309364|PMID:11431688|PMID:12552561|PMID:12731001|PMID:16098226|PMID:25741868|PMID:27431685|PMID:28321846|PMID:28492532|PMID:29618921 8881578 Pax6 paired box 6 gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:737459 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:10234503|PMID:12634864|PMID:12868034|PMID:15086958|PMID:17417613|PMID:18483559|PMID:18776953|PMID:22692063|PMID:25741868|PMID:26604670|PMID:26661695|PMID:28321846|PMID:28492532|PMID:31161946|PMID:9727514 8881578 Pax6 paired box 6 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8881578 Pax6 paired box 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8881578 Pax6 paired box 6 gene DOID:9006534 Nervous System Malformations ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19329571 8881578 Pax6 paired box 6 gene DOID:9007943 Microphthalmia/Coloboma 12 ISO RGD:737459 D RGD:7240710 20240320 OMIM 8881578 Pax6 paired box 6 gene DOID:9008091 Optic Nerve Injuries ISO RGD:3258 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:23297010|REF_RGD_ID:8552379 8881578 Pax6 paired box 6 gene DOID:9008296 Eye Abnormalities ISO RGD:3258 D RGD:9068941 20200609 RGD PMID:9247338|REF_RGD_ID:731242 8881578 Pax6 paired box 6 gene DOID:9008296 Eye Abnormalities ISO RGD:737459 D RGD:9068941 20200609 RGD PMID:10441571|PMID:12721955|REF_RGD_ID:1601210|REF_RGD_ID:1601211 8881578 Pax6 paired box 6 gene DOID:9008582 Developmental Disease ISO RGD:737459 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8881578 Pax6 paired box 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7559133|PMID:9079035|PMID:9363853 8881578 Pax6 paired box 6 gene DOID:9009007 Tooth Abnormalities ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7559133|PMID:9363853 8881578 Pax6 paired box 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8881578 Pax6 paired box 6 gene DOID:9649 congenital nystagmus ISO RGD:737459 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS4+5G>C (human) PMID:15629294|REF_RGD_ID:8552281 8881600 Slc7a11 solute carrier family 7 member 11 gene DOID:0050865 tongue squamous cell carcinoma severity ISO RGD:1319531 D RGD:9068941 20220225 RGD PMID:24762957|REF_RGD_ID:151361157 8881600 Slc7a11 solute carrier family 7 member 11 gene DOID:2223 platelet storage pool deficiency ISO RGD:1319532 D RGD:9068941 20220825 MouseDO OMIM:185050 8881600 Slc7a11 solute carrier family 7 member 11 gene DOID:2773 contact dermatitis ISO RGD:1319531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8881600 Slc7a11 solute carrier family 7 member 11 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1319532 D RGD:9068941 20220825 MouseDO 8881600 Slc7a11 solute carrier family 7 member 11 gene DOID:630 genetic disease ISO RGD:1319531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881600 Slc7a11 solute carrier family 7 member 11 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19015640 8881653 Itgb1 integrin subunit beta 1 gene DOID:0050700 cardiomyopathy ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18340010 8881653 Itgb1 integrin subunit beta 1 gene DOID:0080074 neural tube defect ISO RGD:736631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25741868 8881653 Itgb1 integrin subunit beta 1 gene DOID:0081292 traumatic brain injury ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 8881653 Itgb1 integrin subunit beta 1 gene DOID:10485 esophageal atresia ISO RGD:736631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8881653 Itgb1 integrin subunit beta 1 gene DOID:10487 Hirschsprung's disease ISO RGD:733764 D RGD:9068941 20220825 MouseDO OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712 8881653 Itgb1 integrin subunit beta 1 gene DOID:10908 hydrocephalus ISO RGD:2927 D RGD:9068941 20200609 RGD PMID:19726708|REF_RGD_ID:2325325 8881653 Itgb1 integrin subunit beta 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884376 8881653 Itgb1 integrin subunit beta 1 gene DOID:1749 squamous cell carcinoma ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 8881653 Itgb1 integrin subunit beta 1 gene DOID:182 calcinosis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18340010 8881653 Itgb1 integrin subunit beta 1 gene DOID:289 endometriosis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8881653 Itgb1 integrin subunit beta 1 gene DOID:2921 glomerulonephritis ISO RGD:2927 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus (rat) PMID:19662603|REF_RGD_ID:2325666 8881653 Itgb1 integrin subunit beta 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21478906 8881653 Itgb1 integrin subunit beta 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736631 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:28537888|REF_RGD_ID:13792830 8881653 Itgb1 integrin subunit beta 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:736631 D RGD:9068941 20200609 RGD PMID:21063403|REF_RGD_ID:13792831 8881653 Itgb1 integrin subunit beta 1 gene DOID:5409 lung small cell carcinoma treatment ISO RGD:736631 D RGD:9068941 20200609 RGD PMID:12168902|REF_RGD_ID:13792832 8881653 Itgb1 integrin subunit beta 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2927 D RGD:9068941 20200609 RGD PMID:28367125|REF_RGD_ID:13602094 8881653 Itgb1 integrin subunit beta 1 gene DOID:6000 congestive heart failure ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884376 8881653 Itgb1 integrin subunit beta 1 gene DOID:630 genetic disease ISO RGD:736631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881653 Itgb1 integrin subunit beta 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736631 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma, PMID:28537888|REF_RGD_ID:13792830 8881653 Itgb1 integrin subunit beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23562787 8881653 Itgb1 integrin subunit beta 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8881653 Itgb1 integrin subunit beta 1 gene DOID:9002211 Hyperalgesia ISO RGD:2927 D RGD:9068941 20200609 RGD PMID:14984413|REF_RGD_ID:2302389 8881653 Itgb1 integrin subunit beta 1 gene DOID:9002211 Hyperalgesia ISO RGD:2927 D RGD:9068941 20200609 RGD knock-down using a specific monoclonal antibody or RNAi PMID:15836982|REF_RGD_ID:2302139 8881653 Itgb1 integrin subunit beta 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224397 8881653 Itgb1 integrin subunit beta 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2927 D RGD:9068941 20200609 RGD protein:decreased expression:epidermal stem cell (rat) PMID:20187441|REF_RGD_ID:2325322 8881653 Itgb1 integrin subunit beta 1 gene DOID:9007402 Gliosis ISO RGD:736631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 8881677 Tp53i3 tumor protein p53 inducible protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1602900 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8881677 Tp53i3 tumor protein p53 inducible protein 3 gene DOID:0080600 COVID-19 ISO RGD:1602900 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8881677 Tp53i3 tumor protein p53 inducible protein 3 gene DOID:305 carcinoma ISO RGD:1602900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 8881677 Tp53i3 tumor protein p53 inducible protein 3 gene DOID:630 genetic disease ISO RGD:1602900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881677 Tp53i3 tumor protein p53 inducible protein 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1602900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:1059 intellectual disability ISO RGD:1349317 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28135719|PMID:28492532|PMID:29463886|PMID:30397230 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1349317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1349317 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349317 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:1826 epilepsy ISO RGD:1349317 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:4905 pancreatic carcinoma disease_progression ISO RGD:1311923 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:21472101|REF_RGD_ID:9587766 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:630 genetic disease ISO RGD:1349317 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15988005|PMID:25741868|PMID:28135719|PMID:28492532|PMID:28518168|PMID:29463886|PMID:30397230|PMID:32461654|PMID:32483341|PMID:33358638|PMID:35346573|PMID:36114283|PMID:8871545|PMID:9688266 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:8541 Sezary's disease ISO RGD:1349317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9001540 Snijders Blok-Campeau Syndrome ISO RGD:1349317 D RGD:7240710 20190329 OMIM 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9001540 Snijders Blok-Campeau Syndrome ISO RGD:1349317 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome PMID:22495309|PMID:25363768|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:29463886|PMID:29758562|PMID:30192042|PMID:30397230|PMID:32483341|PMID:33358638|PMID:35346573|PMID:36114283 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30397230 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1349317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1349317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:30397230 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1349317 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30397230 8881689 Chd3 chromodomain helicase DNA binding protein 3 gene DOID:9008582 Developmental Disease ISO RGD:1349317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8881740 Prok2 prokineticin 2 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1350776 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8881740 Prok2 prokineticin 2 gene DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia ISO RGD:1350776 D RGD:7240710 20190102 OMIM 8881740 Prok2 prokineticin 2 gene DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia ISO RGD:1350776 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia | ClinVar Annotator: match by term: PROK2-related condition PMID:17054399|PMID:17959774|PMID:18285834|PMID:18559922|PMID:18682503|PMID:20022991|PMID:23643382|PMID:24423319|PMID:25741868|PMID:26141714|PMID:26467025|PMID:28492532|PMID:31200363 8881740 Prok2 prokineticin 2 gene DOID:13938 amenorrhea ISO RGD:1350776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 8881740 Prok2 prokineticin 2 gene DOID:1921 Klinefelter syndrome ISO RGD:1350776 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8881740 Prok2 prokineticin 2 gene DOID:1923 disorder of sexual development ISO RGD:1350776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8881740 Prok2 prokineticin 2 gene DOID:3614 Kallmann syndrome ISO RGD:1350776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8881740 Prok2 prokineticin 2 gene DOID:630 genetic disease ISO RGD:1350776 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8881740 Prok2 prokineticin 2 gene DOID:9002211 Hyperalgesia ISO RGD:1350776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793879 8881749 Cd34 CD34 molecule gene DOID:0050589 inflammatory bowel disease ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8881749 Cd34 CD34 molecule gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8881749 Cd34 CD34 molecule gene DOID:12849 autistic disorder ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8881749 Cd34 CD34 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8881749 Cd34 CD34 molecule gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1315723 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 8881749 Cd34 CD34 molecule gene DOID:630 genetic disease ISO RGD:1315723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881749 Cd34 CD34 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1315723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8881749 Cd34 CD34 molecule gene DOID:8947 diabetic retinopathy ISO RGD:1306863 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 8881749 Cd34 CD34 molecule gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315723 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8881749 Cd34 CD34 molecule gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1315723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 8881749 Cd34 CD34 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8881765 Pla2g1b phospholipase A2 group IB gene DOID:630 genetic disease ISO RGD:735909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881765 Pla2g1b phospholipase A2 group IB gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:62242 D RGD:9068941 20200609 RGD PMID:12376327|REF_RGD_ID:1302550 8881773 Ncf4 neutrophil cytosolic factor 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8881773 Ncf4 neutrophil cytosolic factor 4 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1314271 D RGD:7240710 20180130 OMIM 8881773 Ncf4 neutrophil cytosolic factor 4 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1314271 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:16199547|PMID:16880254|PMID:17576681|PMID:19692703|PMID:20167518|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29431110|PMID:29454792|PMID:29969437|PMID:31027832|PMID:34547651|PMID:9536098 8881773 Ncf4 neutrophil cytosolic factor 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1314271 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8881773 Ncf4 neutrophil cytosolic factor 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1314271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8881773 Ncf4 neutrophil cytosolic factor 4 gene DOID:114 heart disease ISO RGD:1314271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 8881773 Ncf4 neutrophil cytosolic factor 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1314271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8881773 Ncf4 neutrophil cytosolic factor 4 gene DOID:3265 chronic granulomatous disease ISO RGD:1314271 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:16880254|PMID:19692703|PMID:20167518|PMID:28492532|PMID:29969437|PMID:34034819 8881773 Ncf4 neutrophil cytosolic factor 4 gene DOID:630 genetic disease ISO RGD:1314271 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8881773 Ncf4 neutrophil cytosolic factor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1314271 D RGD:9068941 20210205 RGD DNA:polymorphism, SNP:cds (rs729749) (human) PMID:17897462|REF_RGD_ID:41404710 8881773 Ncf4 neutrophil cytosolic factor 4 gene DOID:8778 Crohn's disease ISO RGD:1314271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756 8881787 Nceh1 neutral cholesterol ester hydrolase 1 gene DOID:1062 Fanconi syndrome ISO RGD:1606253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8881787 Nceh1 neutral cholesterol ester hydrolase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:1606253 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32171938 8881787 Nceh1 neutral cholesterol ester hydrolase 1 gene DOID:630 genetic disease ISO RGD:1606253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881843 Cacnb3 calcium voltage-gated channel auxiliary subunit beta 3 gene DOID:5119 ovarian cyst ISO RGD:735859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8881843 Cacnb3 calcium voltage-gated channel auxiliary subunit beta 3 gene DOID:630 genetic disease ISO RGD:735859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881843 Cacnb3 calcium voltage-gated channel auxiliary subunit beta 3 gene DOID:9003740 Nerve Injuries ISO RGD:2248 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dorsal root ganglion: PMID:22187436|REF_RGD_ID:13514092 8881870 Nubp1 NUBP iron-sulfur cluster assembly factor 1, cytosolic gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1321458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8881870 Nubp1 NUBP iron-sulfur cluster assembly factor 1, cytosolic gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1321458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8881870 Nubp1 NUBP iron-sulfur cluster assembly factor 1, cytosolic gene DOID:5812 MHC class II deficiency ISO RGD:1321458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 8881870 Nubp1 NUBP iron-sulfur cluster assembly factor 1, cytosolic gene DOID:630 genetic disease ISO RGD:1321458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:0050868 hepatocellular adenoma ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25656644 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:25656644 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22726846 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:13580 cholestasis disease_progression ISO RGD:621400 D RGD:9068941 20200609 RGD PMID:29204052|REF_RGD_ID:13782189 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:630 genetic disease ISO RGD:1344163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17172636|PMID:24769335|PMID:25656644 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:9005369 Hepatomegaly ISO RGD:1344163 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:23607986|PMID:23721867|PMID:25656644|PMID:32320717|PMID:32435917 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621400 D RGD:9068941 20200609 RGD PMID:20636876|REF_RGD_ID:9835393 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941|PMID:19482888|PMID:22293087|PMID:24449422|PMID:28218408 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14742670|PMID:25656644|PMID:28058446 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:9351 diabetes mellitus ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 8881903 Nr1i3 nuclear receptor subfamily 1 group I member 3 gene DOID:9970 obesity ISO RGD:1344163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20869355 8881916 Commd9 COMM domain containing 9 gene DOID:0080600 COVID-19 ISO RGD:1317050 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8881916 Commd9 COMM domain containing 9 gene DOID:1059 intellectual disability ISO RGD:1317050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8881916 Commd9 COMM domain containing 9 gene DOID:630 genetic disease ISO RGD:1317050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881933 Zftraf1 zinc finger TRAF-type containing 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1344193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8881933 Zftraf1 zinc finger TRAF-type containing 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1344193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8881933 Zftraf1 zinc finger TRAF-type containing 1 gene DOID:1059 intellectual disability ISO RGD:1344193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 8881933 Zftraf1 zinc finger TRAF-type containing 1 gene DOID:4621 holoprosencephaly ISO RGD:1344193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8881933 Zftraf1 zinc finger TRAF-type containing 1 gene DOID:630 genetic disease ISO RGD:1344193 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8881933 Zftraf1 zinc finger TRAF-type containing 1 gene DOID:9004263 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY ISO RGD:1344193 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay 8881983 Fhod3 formin homology 2 domain containing 3 gene DOID:0050700 cardiomyopathy ISO RGD:1314439 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24088304|PMID:25741868|PMID:32335906 8881983 Fhod3 formin homology 2 domain containing 3 gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:1314439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:30442288 8881983 Fhod3 formin homology 2 domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1314439 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8881983 Fhod3 formin homology 2 domain containing 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8881983 Fhod3 formin homology 2 domain containing 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24088304|PMID:25741868 8881983 Fhod3 formin homology 2 domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1314439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8881983 Fhod3 formin homology 2 domain containing 3 gene DOID:630 genetic disease ISO RGD:1314439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24088304|PMID:25741868 8881983 Fhod3 formin homology 2 domain containing 3 gene DOID:9005789 Hypertrophic Cardiomyopathy 28 ISO RGD:1314439 D RGD:7240710 20210707 OMIM 8881983 Fhod3 formin homology 2 domain containing 3 gene DOID:9005789 Hypertrophic Cardiomyopathy 28 ISO RGD:1314439 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 28 | ClinVar Annotator: match by term: FHOD3-related condition PMID:24088304|PMID:25741868|PMID:30442288|PMID:30898215|PMID:30898216|PMID:31742804|PMID:32335906|PMID:33586461 8882025 Kptn kaptin, actin binding protein gene DOID:0080600 COVID-19 ISO RGD:1321189 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8882025 Kptn kaptin, actin binding protein gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1321189 D RGD:7240710 20180130 OMIM 8882025 Kptn kaptin, actin binding protein gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1321189 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome PMID:17576681|PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:30008475|PMID:31345272|PMID:32238909|PMID:32358097|PMID:32808430|PMID:9536098 8882025 Kptn kaptin, actin binding protein gene DOID:1059 intellectual disability ISO RGD:1321189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:32238909|PMID:32808430 8882025 Kptn kaptin, actin binding protein gene DOID:630 genetic disease ISO RGD:1321189 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:30008475|PMID:32358097|PMID:9536098 8882041 Casp9 caspase 9 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:61867 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 8882041 Casp9 caspase 9 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:69147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8882041 Casp9 caspase 9 gene DOID:0080855 Parkinsonism treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26612350|REF_RGD_ID:13503344 8882041 Casp9 caspase 9 gene DOID:1002 endometritis treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26920733|REF_RGD_ID:13782281 8882041 Casp9 caspase 9 gene DOID:104 bacterial infectious disease ISO RGD:62159 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16443785|REF_RGD_ID:2311430 8882041 Casp9 caspase 9 gene DOID:10534 stomach cancer treatment ISO RGD:69147 D RGD:9068941 20210625 RGD human cells in mouse model PMID:29408335|PMID:32106377|REF_RGD_ID:127284846|REF_RGD_ID:127284886 8882041 Casp9 caspase 9 gene DOID:10652 Alzheimer's disease ISO RGD:69147 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 8882041 Casp9 caspase 9 gene DOID:10652 Alzheimer's disease treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29777699|REF_RGD_ID:13782186 8882041 Casp9 caspase 9 gene DOID:10763 hypertension ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:27929425|REF_RGD_ID:13782308 8882041 Casp9 caspase 9 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.Q221R (rs1052576) (human) PMID:19252927|REF_RGD_ID:2315930 8882041 Casp9 caspase 9 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:polymorphism, deletion: :1263A>G, 293del (human) PMID:19412632|REF_RGD_ID:2315929 8882041 Casp9 caspase 9 gene DOID:114 heart disease ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased activation:heart PMID:15805231|REF_RGD_ID:2311320 8882041 Casp9 caspase 9 gene DOID:114 heart disease ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Multiple Trauma PMID:28825094|REF_RGD_ID:13782301 8882041 Casp9 caspase 9 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 8882041 Casp9 caspase 9 gene DOID:12337 varicocele ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:19145435|REF_RGD_ID:2311432 8882041 Casp9 caspase 9 gene DOID:12858 Huntington's disease severity ISO RGD:62159 D RGD:9068941 20200609 RGD protein:increased expression:striatum: PMID:12095160|REF_RGD_ID:13432083 8882041 Casp9 caspase 9 gene DOID:12858 Huntington's disease severity ISO RGD:69147 D RGD:9068941 20200609 RGD protein:increased expression:caudate nucleus: PMID:12095160|REF_RGD_ID:13432083 8882041 Casp9 caspase 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 8882041 Casp9 caspase 9 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:28245472|REF_RGD_ID:13782344 8882041 Casp9 caspase 9 gene DOID:14330 Parkinson's disease ISO RGD:69147 D RGD:9068941 20200609 RGD protein:increased activity:blood, leukocyte PMID:16505307|REF_RGD_ID:13503345 8882041 Casp9 caspase 9 gene DOID:1612 breast cancer ISO RGD:69147 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:17011986|REF_RGD_ID:2290492 8882041 Casp9 caspase 9 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1263A>G (human) PMID:20357690|REF_RGD_ID:13451540 8882041 Casp9 caspase 9 gene DOID:1793 pancreatic cancer treatment ISO RGD:69147 D RGD:9068941 20200609 RGD PMID:19209030|REF_RGD_ID:13462046 8882041 Casp9 caspase 9 gene DOID:2055 post-traumatic stress disorder ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:25331812|REF_RGD_ID:13782181 8882041 Casp9 caspase 9 gene DOID:224 transient cerebral ischemia ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:21712070|REF_RGD_ID:10053706 8882041 Casp9 caspase 9 gene DOID:224 transient cerebral ischemia ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:neocortex PMID:15246841|REF_RGD_ID:2311321 8882041 Casp9 caspase 9 gene DOID:224 transient cerebral ischemia ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11333366 8882041 Casp9 caspase 9 gene DOID:2316 brain ischemia ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11756504 8882041 Casp9 caspase 9 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:69147 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8882041 Casp9 caspase 9 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased activity:spinal cord PMID:16847061|REF_RGD_ID:2311466 8882041 Casp9 caspase 9 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26868427|REF_RGD_ID:13782346 8882041 Casp9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9068941 20200609 RGD DNA, mRNA:SNP, decreased expression:exon, lung:rs1052576 (human) PMID:17285546|REF_RGD_ID:13434907 8882041 Casp9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP: :rs4645981 (human) PMID:20661084|REF_RGD_ID:13434908 8882041 Casp9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909 8882041 Casp9 caspase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:69147 D RGD:9068941 20200609 RGD mRNA:splice variant:lung PMID:20972334|REF_RGD_ID:9999427 8882041 Casp9 caspase 9 gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1052571 (human) PMID:17285546|REF_RGD_ID:13434907 8882041 Casp9 caspase 9 gene DOID:5082 liver cirrhosis ISO RGD:62159 D RGD:9068941 20200609 RGD associated with cholestasis PMID:29105510|REF_RGD_ID:13782297 8882041 Casp9 caspase 9 gene DOID:5199 ureteral obstruction treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29781318|REF_RGD_ID:13782341 8882041 Casp9 caspase 9 gene DOID:5327 retinal detachment ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 8882041 Casp9 caspase 9 gene DOID:5434 scrapie ISO RGD:62159 D RGD:9068941 20200609 RGD PMID:27921253|REF_RGD_ID:13782156 8882041 Casp9 caspase 9 gene DOID:557 kidney disease ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29257007|REF_RGD_ID:13782293 8882041 Casp9 caspase 9 gene DOID:574 peripheral nervous system disease ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 8882041 Casp9 caspase 9 gene DOID:630 genetic disease ISO RGD:69147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882041 Casp9 caspase 9 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29133031|REF_RGD_ID:13782296 8882041 Casp9 caspase 9 gene DOID:83 cataract treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23508955|REF_RGD_ID:13782357 8882041 Casp9 caspase 9 gene DOID:8398 osteoarthritis treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29138829|REF_RGD_ID:13782343 8882041 Casp9 caspase 9 gene DOID:863 nervous system disease ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11150333 8882041 Casp9 caspase 9 gene DOID:8947 diabetic retinopathy ISO RGD:69147 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activation:retina PMID:18369072|REF_RGD_ID:2311244 8882041 Casp9 caspase 9 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:21748659|REF_RGD_ID:10053608 8882041 Casp9 caspase 9 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:27339639|REF_RGD_ID:13782345 8882041 Casp9 caspase 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69147 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP:exon:rs1052576 (human) PMID:17285546|REF_RGD_ID:13434907 8882041 Casp9 caspase 9 gene DOID:9000197 Edema ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 8882041 Casp9 caspase 9 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26163325|REF_RGD_ID:13782347 8882041 Casp9 caspase 9 gene DOID:9000808 Hypercholesterolemia ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:24484682|REF_RGD_ID:13782354 8882041 Casp9 caspase 9 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:24939579|REF_RGD_ID:13782350 8882041 Casp9 caspase 9 gene DOID:9001390 Testis Reperfusion Injury ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26754107|REF_RGD_ID:11555349 8882041 Casp9 caspase 9 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:62159 D RGD:9068941 20230525 RGD PMID:34144219|REF_RGD_ID:329812011 8882041 Casp9 caspase 9 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23364428|REF_RGD_ID:13782358 8882041 Casp9 caspase 9 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29606028|PMID:30038056|REF_RGD_ID:13782342|REF_RGD_ID:13792586 8882041 Casp9 caspase 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8882041 Casp9 caspase 9 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:62159 D RGD:9068941 20200609 RGD PMID:23833961|REF_RGD_ID:13702874 8882041 Casp9 caspase 9 gene DOID:9002661 Diabetes Complications treatment ISO RGD:61867 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24252320|REF_RGD_ID:13782355 8882041 Casp9 caspase 9 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:28096675|REF_RGD_ID:13782306 8882041 Casp9 caspase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18521931|REF_RGD_ID:2311436 8882041 Casp9 caspase 9 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23046993|REF_RGD_ID:13782359 8882041 Casp9 caspase 9 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:61867 D RGD:9068941 20230128 RGD PMID:24089674|REF_RGD_ID:155882465 8882041 Casp9 caspase 9 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29568770|REF_RGD_ID:13792595 8882041 Casp9 caspase 9 gene DOID:9004484 Sepsis treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29180187|REF_RGD_ID:13782295 8882041 Casp9 caspase 9 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26238033|REF_RGD_ID:13782174 8882041 Casp9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:17297389|REF_RGD_ID:2315933 8882041 Casp9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:62159 D RGD:9068941 20200609 RGD PMID:20012353|REF_RGD_ID:2315928 8882041 Casp9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 8882041 Casp9 caspase 9 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:26699876|REF_RGD_ID:13782283 8882041 Casp9 caspase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:pituitary gland PMID:15976052|REF_RGD_ID:2311319 8882041 Casp9 caspase 9 gene DOID:9005930 Endotoxemia treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23214195|REF_RGD_ID:10400903 8882041 Casp9 caspase 9 gene DOID:9006937 NSAID-Enteropathy ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:25014874|REF_RGD_ID:13782349 8882041 Casp9 caspase 9 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:28992627|REF_RGD_ID:13782299 8882041 Casp9 caspase 9 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:23946597|REF_RGD_ID:13782356 8882041 Casp9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61867 D RGD:9068941 20200609 RGD protein:increased activity:cardiomyocyte,endothelial cell PMID:11934844|REF_RGD_ID:13782263 8882041 Casp9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 8882041 Casp9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:62159 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 8882041 Casp9 caspase 9 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:61867 D RGD:9068941 20200609 RGD PMID:29538428|REF_RGD_ID:13782276 8882041 Casp9 caspase 9 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:69147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 8882041 Casp9 caspase 9 gene DOID:9256 colorectal cancer ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1263A>G (human) PMID:21538054|REF_RGD_ID:13210582 8882041 Casp9 caspase 9 gene DOID:9256 colorectal cancer no_association ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNPs::rs4646077, rs4233532, rs2881930 (human) PMID:23303631|REF_RGD_ID:13210584 8882041 Casp9 caspase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69147 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:16038259|REF_RGD_ID:2311246 8882041 Casp9 caspase 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:62159 D RGD:9068941 20200609 RGD PMID:14617576|REF_RGD_ID:2311322 8882041 Casp9 caspase 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69147 D RGD:9068941 20200609 RGD PMID:17880769|REF_RGD_ID:2311245 8882055 Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:10652 Alzheimer's disease ISO RGD:731254 D RGD:9068941 20200609 RGD PMID:19760337|REF_RGD_ID:13801191 8882055 Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:10652 Alzheimer's disease ISO RGD:735249 D RGD:9068941 20200609 RGD PMID:19760337|REF_RGD_ID:13801191 8882055 Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8882055 Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:630 genetic disease ISO RGD:735249 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882055 Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 gene DOID:9004001 Facial Nerve Injuries ISO RGD:3155 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:8875451|REF_RGD_ID:2302319 8882072 Grtp1 growth hormone regulated TBC protein 1 gene DOID:2222 factor X deficiency ISO RGD:1319426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8882072 Grtp1 growth hormone regulated TBC protein 1 gene DOID:630 genetic disease ISO RGD:1319426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882099 Carhsp1 calcium regulated heat stable protein 1 gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:733909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25738457|PMID:28492532 8882099 Carhsp1 calcium regulated heat stable protein 1 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:733909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8882099 Carhsp1 calcium regulated heat stable protein 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:733909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8882099 Carhsp1 calcium regulated heat stable protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:733909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8882099 Carhsp1 calcium regulated heat stable protein 1 gene DOID:630 genetic disease ISO RGD:733909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882099 Carhsp1 calcium regulated heat stable protein 1 gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:733909 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hao-Fountain syndrome 8882099 Carhsp1 calcium regulated heat stable protein 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:708415 D RGD:9068941 20200925 RGD PMID:19997081|REF_RGD_ID:39128203 8882122 Rabepk Rab9 effector protein with kelch motifs gene DOID:630 genetic disease ISO RGD:1604052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882122 Rabepk Rab9 effector protein with kelch motifs gene DOID:9002189 High Myopia ISO RGD:1604052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8882160 Lypla2 lysophospholipase 2 gene DOID:630 genetic disease ISO RGD:733893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882160 Lypla2 lysophospholipase 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733893 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:0060041 autism spectrum disorder ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545|PMID:28492532|PMID:30504930 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:0070067 White-Sutton syndrome ISO RGD:1320615 D RGD:7240710 20180130 OMIM 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:0070067 White-Sutton syndrome ISO RGD:1320615 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar Annotator: match by term: POGZ-related condition PMID:22495311|PMID:22542183|PMID:23375656|PMID:24267886|PMID:24463507|PMID:24896178|PMID:25533962|PMID:25694107|PMID:25741868|PMID:26077850|PMID:26739615|PMID:26763879|PMID:26942287|PMID:27148570|PMID:28480548|PMID:28492532|PMID:28708303|PMID:29758562|PMID:31782611|PMID:31981491|PMID:33098347|PMID:33277917|PMID:34529370|PMID:35887114|PMID:9862965 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:0080422 Dravet syndrome ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:0111940 immunodeficiency 42 ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:1059 intellectual disability ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:26077850|PMID:27148570|PMID:31782611 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:1540 parathyroid carcinoma ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:5812 MHC class II deficiency ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:630 genetic disease ISO RGD:1320615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20562864|PMID:21518873|PMID:22495311|PMID:22542183|PMID:23375656|PMID:24267886|PMID:24463507|PMID:24896178|PMID:25533962|PMID:25694107|PMID:25741868|PMID:26077850|PMID:26739615|PMID:26942287|PMID:27148570|PMID:28480548|PMID:28492532|PMID:31782611|PMID:31981491|PMID:33277917|PMID:9862965 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:9003133 Hypertelorism ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320615 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26942287|PMID:28492532|PMID:31782611|PMID:31981491 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:9007661 Dwarfism ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:9008086 Developmental Disabilities ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26077850|PMID:27148570|PMID:31782611 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8882175 Pogz pogo transposable element derived with ZNF domain gene DOID:9970 obesity ISO RGD:1320615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 8882216 Lysmd2 LysM domain containing 2 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1605838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 8882216 Lysmd2 LysM domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1605838 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8882216 Lysmd2 LysM domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1605838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8882216 Lysmd2 LysM domain containing 2 gene DOID:607 paraplegia ISO RGD:1605838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 8882216 Lysmd2 LysM domain containing 2 gene DOID:630 genetic disease ISO RGD:1605838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882216 Lysmd2 LysM domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1605838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8882226 Klhl14 kelch like family member 14 gene DOID:1059 intellectual disability ISO RGD:1321388 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8882226 Klhl14 kelch like family member 14 gene DOID:630 genetic disease ISO RGD:1321388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short ribs PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:29620724|PMID:7695699|PMID:8218237|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0050817 Stargardt disease ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:16752401|PMID:20513134|PMID:28492532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0060221 Maffucci syndrome ISO RGD:734037 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maffucci syndrome PMID:25741868 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0060930 developmental dysplasia of the hip ISO RGD:734037 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Acetabular dysplasia PMID:16755660|PMID:17726487|PMID:18553548|PMID:19764028|PMID:25741868|PMID:28492532|PMID:32071555|PMID:8244341 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080011 bone resorption disease ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27028940 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:25326635|PMID:25741868 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:10373 D RGD:9068941 20220825 MouseDO 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:734037 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:15895462|PMID:16088915|PMID:17078022|PMID:17347327|PMID:17509551|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26377240|PMID:26467025|PMID:26626311|PMID:28492532|PMID:30138938|PMID:30792901|PMID:33249554|PMID:34008892|PMID:34394176|PMID:7550321|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8423604|PMID:8486375|PMID:8702139|PMID:8723096|PMID:8893763|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080044 hypochondrogenesis ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypochondrogenesis PMID:1429602|PMID:2572591|PMID:3195588 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080045 Kniest dysplasia ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080045 Kniest dysplasia ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kniest dysplasia PMID:10406661|PMID:12995812|PMID:17078022|PMID:17347327|PMID:17576681|PMID:18272325|PMID:18276201|PMID:19344236|PMID:22791362|PMID:23188137|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:28492532|PMID:29620724|PMID:29758562|PMID:30408610|PMID:4014370|PMID:4214536|PMID:7695699|PMID:7700721|PMID:7849719|PMID:7874117|PMID:7977371|PMID:7981752|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9066888|PMID:9468540|PMID:9536098 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080046 Stickler syndrome ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant | ClinVar Annotator: match by term: Stickler syndrome PMID:24033266|PMID:25741868|PMID:26443184|PMID:28492532|PMID:30311386 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080056 achondrogenesis type II ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080056 achondrogenesis type II ISO RGD:734037 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta PMID:10612821|PMID:10797431|PMID:10982970|PMID:11007540|PMID:12429249|PMID:12544472|PMID:12939326|PMID:15054848|PMID:15895462|PMID:16199547|PMID:16752401|PMID:16755660|PMID:17078022|PMID:17347327|PMID:17576681|PMID:17726487|PMID:17994563|PMID:18272325|PMID:18276201|PMID:18553548|PMID:19344236|PMID:19764028|PMID:20179744|PMID:20301479|PMID:20513134|PMID:21472893|PMID:21924244|PMID:22496037|PMID:22522174|PMID:23592912|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25735649|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26377240|PMID:26443184|PMID:26467025|PMID:26626311|PMID:26747767|PMID:27234559|PMID:27390512|PMID:28492532|PMID:28559085|PMID:29453956|PMID:29620724|PMID:30138938|PMID:30181686|PMID:30792901|PMID:31755234|PMID:32071555|PMID:32756486|PMID:33249554|PMID:34394176|PMID:34573377|PMID:7695699|PMID:7752132|PMID:7757081|PMID:7829510|PMID:7977371|PMID:8218237|PMID:8244341|PMID:8325895|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9101290|PMID:9536098 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080395 orofacial cleft 1 ISO RGD:734037 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Orofacial cleft 1 PMID:24664531|PMID:25741868|PMID:26467025|PMID:28492532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080676 Stickler syndrome 1 ISO RGD:734037 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive | ClinVar Annotator: match by term: Stickler syndrome type 1 PMID:10353778|PMID:10486316|PMID:10706362|PMID:10729292|PMID:10982970|PMID:11007540|PMID:12544472|PMID:12939326|PMID:14299791|PMID:1444917|PMID:15671297|PMID:15895462|PMID:16189708|PMID:16199547|PMID:16752401|PMID:16755660|PMID:1677770|PMID:17078022|PMID:17347327|PMID:17576681|PMID:17638425|PMID:17721977|PMID:17726487|PMID:18272325|PMID:18276201|PMID:18553548|PMID:1905723|PMID:19344236|PMID:19764028|PMID:20131279|PMID:20179744|PMID:20301479|PMID:20513134|PMID:22496037|PMID:22522174|PMID:22574936|PMID:22791362|PMID:23022073|PMID:24664531|PMID:25046119|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25809783|PMID:26037341|PMID:26467025|PMID:26626311|PMID:26709265|PMID:26747767|PMID:27183340|PMID:27234559|PMID:27390512|PMID:27408751|PMID:2803268|PMID:28492532|PMID:28559085|PMID:29095814|PMID:29453956|PMID:30181686|PMID:30311386|PMID:31736238|PMID:31872526|PMID:32071555|PMID:32510848|PMID:32756486|PMID:34008892|PMID:34529350|PMID:35052477|PMID:36400164|PMID:36901693|PMID:7487609|PMID:7695699|PMID:7849719|PMID:7977371|PMID:8218237|PMID:8244341|PMID:8406454|PMID:8423604|PMID:8434604|PMID:8702139|PMID:8737653|PMID:8893763|PMID:9016532|PMID:9536098 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant PMID:25741868 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:22496037|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:27390512|PMID:28018693|PMID:28492532|PMID:28983407|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9800905 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:734037 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant PMID:14729840|PMID:15266623|PMID:17078022|PMID:17347327|PMID:17726487|PMID:18272325|PMID:18276201|PMID:19344236|PMID:21442341|PMID:22791362|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26443184|PMID:26467025|PMID:26633542|PMID:28492532|PMID:35052477|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0112195 spondyloperipheral dysplasia ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0112195 spondyloperipheral dysplasia ISO RGD:734037 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spondyloperipheral dysplasia | ClinVar Annotator: match by term: Spondyloperipheral dysplasia with short ulna | ClinVar Annotator: match by term: Spondyloperipheral dysplasia-short ulna syndrome PMID:10612821|PMID:11746045|PMID:14729840|PMID:15266623|PMID:15316962|PMID:15895462|PMID:17078022|PMID:17347327|PMID:17509551|PMID:17726487|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:21472893|PMID:21924244|PMID:23079993|PMID:24033266|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25735649|PMID:25741868|PMID:25741869|PMID:25900302|PMID:26037341|PMID:26443184|PMID:26467025|PMID:26626311|PMID:28492532|PMID:32381255|PMID:34008892|PMID:7550321|PMID:7695699|PMID:7752132|PMID:7977371|PMID:8218237|PMID:8325895|PMID:8423604|PMID:8702139|PMID:8723097|PMID:8893763|PMID:9016532|PMID:9101290 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ISO RGD:734037 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SED, STANESCU TYPE | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Stanescu type | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, stanescu type PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26183434|PMID:26420734|PMID:26467025|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:25741868|PMID:28492532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:17078022|PMID:17163530|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:22791362|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26402641|PMID:26443184|PMID:26467025|PMID:26626311|PMID:27888646|PMID:28492532|PMID:32200603|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16189708 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:10584 retinitis pigmentosa ISO RGD:734037 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:1059 intellectual disability ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:1123 spondyloarthropathy ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.G274S(human) PMID:7866404|REF_RGD_ID:12108857 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:11830 myopia ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia PMID:22496037|PMID:25741868|PMID:27390512|PMID:28018693|PMID:28492532|PMID:28983407|PMID:9800905 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:11830 myopia susceptibility ISO RGD:734037 D RGD:9068941 20200609 RGD associated with Stickler Syndrome, Type 1; DNA:mutations: exons: PMID:18276201|REF_RGD_ID:12436723 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:1222 cartilage disease ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27028940 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:14415 Legg-Calve-Perthes disease ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:14415 Legg-Calve-Perthes disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coxa plana | ClinVar Annotator: match by term: Legg-Calve-Perthes disease | ClinVar Annotator: match by term: Osteochondritis deformans PMID:15930420|PMID:17078022|PMID:17347327|PMID:17394019|PMID:18272325|PMID:18276201|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25809783|PMID:26037341|PMID:26467025|PMID:28492532|PMID:29750297|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:1459 hypothyroidism treatment ISO RGD:2375 D RGD:9068941 20200609 RGD PMID:17310101|REF_RGD_ID:8661259 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:734037 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, congenital type PMID:10612821|PMID:10678662|PMID:11746045|PMID:15643621|PMID:15895462|PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:20179744|PMID:20513134|PMID:21472893|PMID:21924244|PMID:2339128|PMID:24033266|PMID:2543071|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25735649|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26380986|PMID:26443184|PMID:26467025|PMID:26626311|PMID:26985960|PMID:27234559|PMID:28492532|PMID:31019026|PMID:31755234|PMID:32381255|PMID:32860008|PMID:34008892|PMID:35052477|PMID:7695699|PMID:7752132|PMID:7977371|PMID:8218237|PMID:8325895|PMID:8423604|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9101290 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:1682 congenital heart disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:12544472|PMID:20179744|PMID:22496037|PMID:25741868|PMID:26747767|PMID:28492532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:1909 melanoma ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:734037 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:2703 synovitis ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194622 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:3371 chondrosarcoma ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770606 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:3371 chondrosarcoma ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:23770606|REF_RGD_ID:8657387 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:5327 retinal detachment ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal detachment 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:5614 eye disease ISO RGD:734037 D RGD:9068941 20200609 RGD associated with Toxoplasmosis, Congenital;DNA:snps:multiple (human) PMID:19430638|REF_RGD_ID:8657386 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:630 genetic disease ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10353778|PMID:10745044|PMID:12848929|PMID:12925722|PMID:15895462|PMID:17078022|PMID:17509551|PMID:19344236|PMID:1971141|PMID:20179744|PMID:20513134|PMID:22791362|PMID:23079993|PMID:24736929|PMID:25604898|PMID:25741868|PMID:25823796|PMID:25900302|PMID:26250472|PMID:26345137|PMID:26358419|PMID:26626311|PMID:28095098|PMID:28492532|PMID:28738883|PMID:30170566|PMID:31758797|PMID:7550321|PMID:7695699|PMID:7741714|PMID:8218237|PMID:8486375|PMID:9016532|PMID:9724608 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:734037 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:12205109|PMID:12544472|PMID:15895462|PMID:17078022|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:1975693|PMID:1985108|PMID:20179744|PMID:22496037|PMID:25504618|PMID:25604898|PMID:25741868|PMID:26443184|PMID:26467025|PMID:26626311|PMID:26747767|PMID:27183340|PMID:27234559|PMID:28492532|PMID:34008892|PMID:35052477|PMID:7695699|PMID:8218237|PMID:8423604|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:674 cleft palate ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15562585 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:674 cleft palate susceptibility ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:intron:rs1793949(human) PMID:20672350|REF_RGD_ID:12436724 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:7148 rheumatoid arthritis ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27028940|PMID:29935983 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:83 cataract ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8317498 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:8398 osteoarthritis ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16189708|PMID:9061443 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:8398 osteoarthritis onset ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R75C (human) PMID:16755660|REF_RGD_ID:8657384 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:8398 osteoarthritis treatment ISO RGD:2375 D RGD:9068941 20200609 RGD PMID:19216861|REF_RGD_ID:8661226 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:848 arthritis ISO RGD:734037 D RGD:9068941 20240307 CTD CTD Direct Evidence: marker/mechanism PMID:17299831|PMID:24144632|PMID:26640276|PMID:36121554|PMID:37358659 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:8501 fundus dystrophy ISO RGD:734037 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10706362|PMID:11007540|PMID:15895462|PMID:16199547|PMID:16752401|PMID:20179744|PMID:20513134|PMID:22496037|PMID:22522174|PMID:25741868|PMID:26747767|PMID:27234559|PMID:27390512|PMID:27408751|PMID:28492532|PMID:29453956|PMID:30181686|PMID:31736238 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:8886 chorioretinitis ISO RGD:734037 D RGD:9068941 20200609 RGD associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human) PMID:18523590|REF_RGD_ID:8657355 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:2375 D RGD:9068941 20200609 RGD PMID:24285589|REF_RGD_ID:11570539 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:2375 D RGD:9068941 20200609 RGD mRNA:decreased expression:intervertebral disc (rat) PMID:20948465|REF_RGD_ID:8661231 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:90 degenerative disc disease treatment ISO RGD:2375 D RGD:9068941 20200609 RGD associated with Renal Insufficiency PMID:19063844|REF_RGD_ID:10043178 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9000197 Edema ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194622|PMID:27028940|PMID:29908986|PMID:29935983 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9001210 Osteoarthritis with Mild Chondrodysplasia ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9001210 Osteoarthritis with Mild Chondrodysplasia ISO RGD:734037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Namaqualand hip dysplasia | ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia PMID:10372559|PMID:15895462|PMID:16155195|PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:1905723|PMID:19344236|PMID:1975693|PMID:1985108|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26443184|PMID:26467025|PMID:26626311|PMID:28492532|PMID:34008892|PMID:7695699|PMID:7757086|PMID:7977371|PMID:8218237|PMID:8423604|PMID:8507190|PMID:8702139|PMID:8893763|PMID:9016532|PMID:9711874 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9001679 Collagenopathy, Type 2 Alpha 1 ISO RGD:734037 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cartilage collagen PMID:10612821|PMID:15895462|PMID:17078022|PMID:17163530|PMID:17347327|PMID:1905723|PMID:19344236|PMID:20179744|PMID:20301479|PMID:22791362|PMID:25604898|PMID:25741868|PMID:26402641|PMID:26443184|PMID:26626311|PMID:27234559|PMID:27888646|PMID:28492532|PMID:32200603|PMID:34008892|PMID:7695699|PMID:8218237|PMID:8423604|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9001981 Weight Loss ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26070417|PMID:29908986 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9002189 High Myopia severity ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19387081|REF_RGD_ID:8657342 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9002221 Hyperplasia ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25481498 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9002231 Fetal Growth Retardation ISO RGD:2375 D RGD:9068941 20200609 RGD mRNA:decreased expression:distal epiphyseal plate of femur (rat) PMID:22995397|REF_RGD_ID:8661261 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9002457 Experimental Arthritis ISO RGD:734037 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:16200597|PMID:21188452|PMID:23326410|PMID:24709313|PMID:25194622|PMID:25481498|PMID:26070417|PMID:29908986|PMID:29935983|PMID:36181686 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9003049 Femur Head Necrosis ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9003049 Femur Head Necrosis ISO RGD:734037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary | ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 1 PMID:15930420|PMID:17078022|PMID:17347327|PMID:17394019|PMID:18272325|PMID:18276201|PMID:19344236|PMID:21671384|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25809783|PMID:26037341|PMID:26467025|PMID:28492532|PMID:29750297|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9003576 Prognathism susceptibility ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:SNP: : rs1793953(human) PMID:24386886|REF_RGD_ID:11667107 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9003716 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia ISO RGD:734037 D RGD:7240710 20210414 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9003716 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia ISO RGD:734037 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Vitreoretinopathy with phalangeal epiphyseal dysplasia PMID:12205109|PMID:17078022|PMID:17347327|PMID:18272325|PMID:18276201|PMID:19344236|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26467025|PMID:28492532|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8702139|PMID:8893763|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9003722 Bronchial Fistula treatment ISO RGD:2375 D RGD:9068941 20200609 RGD PMID:24647564|REF_RGD_ID:8661658 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9004538 Hearing Loss ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:26626311|PMID:28492532|PMID:30311386 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9005372 Inflammation ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24144632|PMID:27028940 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9005817 Czech Dysplasia, Metatarsal Type ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9005817 Czech Dysplasia, Metatarsal Type ISO RGD:734037 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Czech dysplasia, metatarsal type | ClinVar Annotator: match by term: Pseudorheumatoid dysplasia progressive, with hypoplastic toes | ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS PMID:16755660|PMID:17078022|PMID:17347327|PMID:17726487|PMID:18272325|PMID:18276201|PMID:18553548|PMID:19344236|PMID:19764028|PMID:22791362|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:25967556|PMID:26037341|PMID:26467025|PMID:26626311|PMID:28492532|PMID:32071555|PMID:7695699|PMID:7977371|PMID:8218237|PMID:8244341|PMID:8702139|PMID:8893763|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11812423 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:frameshift mutation:exon:p.C57X (human) PMID:11812423|REF_RGD_ID:8657385 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:734037 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.G67D (human) PMID:8317498|REF_RGD_ID:8657389 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9006205 Animal Disease Models ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17299831 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9006763 Stickler Syndrome, Type I, Nonsyndromic Ocular ISO RGD:734037 D RGD:7240710 20180130 OMIM 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9006763 Stickler Syndrome, Type I, Nonsyndromic Ocular ISO RGD:734037 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: STICKLER SYNDROME, ATYPICAL | ClinVar Annotator: match by term: Stickler syndrome, type I, nonsyndromic ocular PMID:11007540|PMID:11410667|PMID:15316962|PMID:15671297|PMID:15895462|PMID:16752401|PMID:17078022|PMID:17347327|PMID:17721977|PMID:18272325|PMID:18276201|PMID:19344236|PMID:20179744|PMID:20301479|PMID:20513134|PMID:22496037|PMID:22522174|PMID:22574936|PMID:22791362|PMID:25060605|PMID:25504618|PMID:25592122|PMID:25604898|PMID:25741868|PMID:25741869|PMID:26037341|PMID:26358419|PMID:26443184|PMID:26467025|PMID:26747767|PMID:27234559|PMID:27390512|PMID:27408751|PMID:28492532|PMID:29453956|PMID:30181686|PMID:7695699|PMID:7849719|PMID:7977371|PMID:8218237|PMID:8317498|PMID:8702139|PMID:8723097|PMID:8893763|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9006976 Erythema ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194622|PMID:27028940 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9007109 Rhegmatogenous Retinal Detachment, Autosomal Dominant ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant rhegmatogenous retinal detachment PMID:10982970|PMID:12544472|PMID:12939326|PMID:15671297|PMID:17078022|PMID:19344236|PMID:20179744|PMID:20301479|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9007661 Dwarfism ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9007706 MASS Syndrome ISO RGD:734037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MASS syndrome PMID:25741868|PMID:28492532 8882241 Col2a1 collagen type II alpha 1 chain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15562585|PMID:9061443 8882319 Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0060250 idiopathic scoliosis ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic scoliosis PMID:28492532|PMID:29240829 8882319 Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0060373 orofaciodigital syndrome III ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome III 8882319 Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:733345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 8882319 Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:733345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8882319 Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:10908 hydrocephalus ISO RGD:736028 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8882319 Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:12849 autistic disorder ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8882319 Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:3393 coronary artery disease ISO RGD:733345 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8882319 Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:630 genetic disease ISO RGD:733345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8882319 Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 8882319 Celsr2 cadherin EGF LAG seven-pass G-type receptor 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:733345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8882373 Pcmtd1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882384 Rxrb retinoid X receptor beta gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:735628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8882384 Rxrb retinoid X receptor beta gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:735628 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8882384 Rxrb retinoid X receptor beta gene DOID:630 genetic disease ISO RGD:735628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882384 Rxrb retinoid X receptor beta gene DOID:9000217 Stomach Neoplasms ISO RGD:735628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8882384 Rxrb retinoid X receptor beta gene DOID:9000918 Disease Progression ISO RGD:735628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8882384 Rxrb retinoid X receptor beta gene DOID:9008939 Breast Neoplasms ISO RGD:735628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22322885 8882409 Spryd7 SPRY domain containing 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8882409 Spryd7 SPRY domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1315052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8882409 Spryd7 SPRY domain containing 7 gene DOID:630 genetic disease ISO RGD:1315052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882421 Ptx4 pentraxin 4 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8882421 Ptx4 pentraxin 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605189 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532|PMID:29688594 8882421 Ptx4 pentraxin 4 gene DOID:1826 epilepsy ISO RGD:1605189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8882421 Ptx4 pentraxin 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8882421 Ptx4 pentraxin 4 gene DOID:630 genetic disease ISO RGD:1605189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882475 Tprn taperin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1352518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:20170899|PMID:30303587 8882475 Tprn taperin gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8882475 Tprn taperin gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1352518 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8882475 Tprn taperin gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8882475 Tprn taperin gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352518 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8882475 Tprn taperin gene DOID:0081097 Rafiq syndrome ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8882475 Tprn taperin gene DOID:0110526 autosomal recessive nonsyndromic deafness 79 ISO RGD:1352518 D RGD:7240710 20180130 OMIM 8882475 Tprn taperin gene DOID:0110526 autosomal recessive nonsyndromic deafness 79 ISO RGD:1352518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 79 PMID:20170898|PMID:20170899|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30303587 8882475 Tprn taperin gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352518 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8882475 Tprn taperin gene DOID:1826 epilepsy ISO RGD:1352518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8882475 Tprn taperin gene DOID:630 genetic disease ISO RGD:1352518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8882475 Tprn taperin gene DOID:9004538 Hearing Loss ISO RGD:1352518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 8882475 Tprn taperin gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1352518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8882482 Hdac2 histone deacetylase 2 gene DOID:0050424 familial adenomatous polyposis treatment ISO RGD:1312510 D RGD:9068941 20200609 RGD PMID:24218540|REF_RGD_ID:9590246 8882482 Hdac2 histone deacetylase 2 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:619976 D RGD:9068941 20240201 RGD mRNA,protein:increased expression:pituitary gland (rat) PMID:26509893|REF_RGD_ID:11344152 8882482 Hdac2 histone deacetylase 2 gene DOID:0060163 body dysmorphic disorder ISO RGD:1312509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8882482 Hdac2 histone deacetylase 2 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18212746|REF_RGD_ID:2306214 8882482 Hdac2 histone deacetylase 2 gene DOID:10534 stomach cancer ISO RGD:1312509 D RGD:9068941 20200609 RGD PMID:23175521|REF_RGD_ID:9590325 8882482 Hdac2 histone deacetylase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD PMID:15865607|REF_RGD_ID:9590322 8882482 Hdac2 histone deacetylase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:22388814|REF_RGD_ID:9590324 8882482 Hdac2 histone deacetylase 2 gene DOID:11832 visual epilepsy ISO RGD:619976 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus & cortex: PMID:21987499|REF_RGD_ID:9590259 8882482 Hdac2 histone deacetylase 2 gene DOID:1561 cognitive disorder ISO RGD:1312510 D RGD:9068941 20200609 RGD PMID:22388814|REF_RGD_ID:9590324 8882482 Hdac2 histone deacetylase 2 gene DOID:1574 alcohol use disorder ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:23485013|REF_RGD_ID:9590265 8882482 Hdac2 histone deacetylase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527555 8882482 Hdac2 histone deacetylase 2 gene DOID:1909 melanoma ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8882482 Hdac2 histone deacetylase 2 gene DOID:2030 anxiety disorder ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:23485013|REF_RGD_ID:9590265 8882482 Hdac2 histone deacetylase 2 gene DOID:2030 anxiety disorder ISO RGD:619976 D RGD:9068941 20231221 RGD associated with alcohol use disorder ;mRNA,protein:increased expression:amygdala (rat) PMID:25814047|REF_RGD_ID:401938652 8882482 Hdac2 histone deacetylase 2 gene DOID:2841 asthma ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:decreased expression:macrophage: PMID:20538962|REF_RGD_ID:9590321 8882482 Hdac2 histone deacetylase 2 gene DOID:289 endometriosis ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8882482 Hdac2 histone deacetylase 2 gene DOID:289 endometriosis treatment ISO RGD:619976 D RGD:9068941 20200609 RGD protein:decreased expression:ectopic endometrium, dorsal root ganglion: PMID:20884991|REF_RGD_ID:9590244 8882482 Hdac2 histone deacetylase 2 gene DOID:3021 acute kidney failure treatment ISO RGD:1312510 D RGD:9068941 20200609 RGD associated with sepsis; PMID:22933299|REF_RGD_ID:9590257 8882482 Hdac2 histone deacetylase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15337792|PMID:18421014 8882482 Hdac2 histone deacetylase 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:619976 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:22732689|REF_RGD_ID:7204496 8882482 Hdac2 histone deacetylase 2 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:24940433|REF_RGD_ID:9590287 8882482 Hdac2 histone deacetylase 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:timporal lobe: PMID:21987499|REF_RGD_ID:9590259 8882482 Hdac2 histone deacetylase 2 gene DOID:3525 middle cerebral artery infarction exacerbates ISO RGD:1312510 D RGD:9068941 20230209 RGD PMID:32239566|REF_RGD_ID:155883173 8882482 Hdac2 histone deacetylase 2 gene DOID:5082 liver cirrhosis ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27396813 8882482 Hdac2 histone deacetylase 2 gene DOID:6132 bronchitis treatment ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:22708526|REF_RGD_ID:9590258 8882482 Hdac2 histone deacetylase 2 gene DOID:630 genetic disease ISO RGD:1312509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11302704|PMID:19822520 8882482 Hdac2 histone deacetylase 2 gene DOID:6432 pulmonary hypertension ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:22711276|REF_RGD_ID:9590133 8882482 Hdac2 histone deacetylase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:24448241|REF_RGD_ID:9590206 8882482 Hdac2 histone deacetylase 2 gene DOID:8616 Peyronie's disease ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:24841412|REF_RGD_ID:9590209 8882482 Hdac2 histone deacetylase 2 gene DOID:8692 myeloid leukemia ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21535412 8882482 Hdac2 histone deacetylase 2 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 8882482 Hdac2 histone deacetylase 2 gene DOID:9000027 Microsatellite Instability ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 8882482 Hdac2 histone deacetylase 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:1312510 D RGD:9068941 20200609 RGD PMID:23696608|REF_RGD_ID:9590210 8882482 Hdac2 histone deacetylase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 8882482 Hdac2 histone deacetylase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 8882482 Hdac2 histone deacetylase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619976 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 8882482 Hdac2 histone deacetylase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:619976 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 8882482 Hdac2 histone deacetylase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17387270|REF_RGD_ID:2306215 8882482 Hdac2 histone deacetylase 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 8882482 Hdac2 histone deacetylase 2 gene DOID:9002884 Emphysema ISO RGD:1312509 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:24040961 8882482 Hdac2 histone deacetylase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1312509 D RGD:9068941 20200609 RGD DNA:mutations:colon: PMID:16642021|REF_RGD_ID:9590331 8882482 Hdac2 histone deacetylase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 8882482 Hdac2 histone deacetylase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 8882482 Hdac2 histone deacetylase 2 gene DOID:9003936 Cardiomegaly ISO RGD:1312509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18625706 8882482 Hdac2 histone deacetylase 2 gene DOID:9003936 Cardiomegaly ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased acetylation:heart: PMID:24526703|REF_RGD_ID:9590211 8882482 Hdac2 histone deacetylase 2 gene DOID:9003936 Cardiomegaly ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased activity:heart: PMID:18849323|REF_RGD_ID:2306446 8882482 Hdac2 histone deacetylase 2 gene DOID:9004271 Colonic Polyps ISO RGD:1312510 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:19010907|REF_RGD_ID:9590323 8882482 Hdac2 histone deacetylase 2 gene DOID:9004271 Colonic Polyps treatment ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:24218540|REF_RGD_ID:9590246 8882482 Hdac2 histone deacetylase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619976 D RGD:9068941 20200609 RGD protein:increased activity:renal cortex: PMID:19553350|REF_RGD_ID:9590229 8882482 Hdac2 histone deacetylase 2 gene DOID:9007096 Stroke ISO RGD:1312509 D RGD:9068941 20230225 RGD mRNA:decreased expression:lymphocyte PMID:31465536|REF_RGD_ID:156430320 8882482 Hdac2 histone deacetylase 2 gene DOID:9007096 Stroke ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:24657831|REF_RGD_ID:9590303 8882482 Hdac2 histone deacetylase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 8882482 Hdac2 histone deacetylase 2 gene DOID:9008023 Memory Disorders treatment ISO RGD:1312510 D RGD:9068941 20200609 RGD PMID:22388814|REF_RGD_ID:9590324 8882482 Hdac2 histone deacetylase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312510 D RGD:9068941 20200609 RGD protein:increased activity:kidney: PMID:19553350|REF_RGD_ID:9590229 8882482 Hdac2 histone deacetylase 2 gene DOID:9675 pulmonary emphysema ISO RGD:1312510 D RGD:9068941 20200609 RGD mRNA,proetin:increased expression,increased activity,hyperphosphorylation,hypercarbonylation:lung: PMID:24040961|REF_RGD_ID:9590320 8882482 Hdac2 histone deacetylase 2 gene DOID:9675 pulmonary emphysema treatment ISO RGD:619976 D RGD:9068941 20200609 RGD PMID:23326540|REF_RGD_ID:9590245 8882482 Hdac2 histone deacetylase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1312509 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic beta cell: PMID:22772764|REF_RGD_ID:9590127 8882482 Hdac2 histone deacetylase 2 gene DOID:986 alopecia areata ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 8882482 Hdac2 histone deacetylase 2 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1312509 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow,blood: PMID:23948281|REF_RGD_ID:9681454 8882503 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:12849 autistic disorder ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8882503 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:1826 epilepsy ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8882503 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:5419 schizophrenia ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8882503 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:630 genetic disease ISO RGD:1605711 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882503 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:8445 intestinal volvulus ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8882503 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 8882503 Marf1 meiosis regulator and mRNA stability factor 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1605711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8882542 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:0070277 primary autosomal recessive microcephaly 15 ISO RGD:1606200 D RGD:7240710 20180130 OMIM 8882542 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:0070277 primary autosomal recessive microcephaly 15 ISO RGD:1606200 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive PMID:25741868|PMID:26005865|PMID:26005868|PMID:28492532|PMID:30043326|PMID:32572202 8882542 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8882542 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:1059 intellectual disability ISO RGD:1606200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26005865 8882542 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:10907 microcephaly ISO RGD:1606200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8882542 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:11383 cryptorchidism ISO RGD:1606200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism 8882542 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:630 genetic disease ISO RGD:1606200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8882542 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:684 hepatocellular carcinoma ISO RGD:1606200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8882542 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid gene DOID:92 speech disorder ISO RGD:1606200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26005865 8882564 Mrnip MRN complex interacting protein gene DOID:0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset ISO RGD:1606005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset PMID:25741868 8882564 Mrnip MRN complex interacting protein gene DOID:0081366 Paget's disease of bone 3 ISO RGD:1606005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paget disease of bone 3 8882564 Mrnip MRN complex interacting protein gene DOID:5408 Paget's disease of bone ISO RGD:1606005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone Paget disease 8882573 Tnfaip8 TNF alpha induced protein 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8882573 Tnfaip8 TNF alpha induced protein 8 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21969086 8882573 Tnfaip8 TNF alpha induced protein 8 gene DOID:630 genetic disease ISO RGD:1314220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882573 Tnfaip8 TNF alpha induced protein 8 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8882573 Tnfaip8 TNF alpha induced protein 8 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21969086 8882573 Tnfaip8 TNF alpha induced protein 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8882573 Tnfaip8 TNF alpha induced protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8882573 Tnfaip8 TNF alpha induced protein 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8882591 Tfap2b transcription factor AP-2 beta gene DOID:0060563 Char syndrome ISO RGD:1314875 D RGD:7240710 20180130 OMIM 8882591 Tfap2b transcription factor AP-2 beta gene DOID:0060563 Char syndrome ISO RGD:1314875 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Char syndrome PMID:10368122|PMID:10802654|PMID:10955477|PMID:11505339|PMID:15684060|PMID:2010091|PMID:20301285|PMID:21643846|PMID:24507797|PMID:25741868|PMID:29555671|PMID:31012281|PMID:31292255|PMID:7645594|PMID:8326495 8882591 Tfap2b transcription factor AP-2 beta gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1314875 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction PMID:25741868 8882591 Tfap2b transcription factor AP-2 beta gene DOID:13550 angle-closure glaucoma ISO RGD:1314876 D RGD:9068941 20220825 MouseDO 8882591 Tfap2b transcription factor AP-2 beta gene DOID:13832 patent ductus arteriosus ISO RGD:1314875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10802654|PMID:19336370 8882591 Tfap2b transcription factor AP-2 beta gene DOID:13832 patent ductus arteriosus ISO RGD:1314876 D RGD:9068941 20220825 MouseDO OMIM:607411 8882591 Tfap2b transcription factor AP-2 beta gene DOID:13832 patent ductus arteriosus susceptibility ISO RGD:1314875 D RGD:9068941 20200609 RGD Char Syndrome, OMIM:169100;DNA:missense mutations:p.A264D, p.R289C PMID:10802654|REF_RGD_ID:1601543 8882591 Tfap2b transcription factor AP-2 beta gene DOID:630 genetic disease ISO RGD:1314875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15684060|PMID:28492532|PMID:31292255 8882591 Tfap2b transcription factor AP-2 beta gene DOID:9003133 Hypertelorism ISO RGD:1314875 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:10802654|PMID:11505339|PMID:2010091|PMID:25741868 8882591 Tfap2b transcription factor AP-2 beta gene DOID:9003602 Patent Ductus Arteriosus 2 ISO RGD:1314875 D RGD:7240710 20190315 OMIM 8882591 Tfap2b transcription factor AP-2 beta gene DOID:9003602 Patent Ductus Arteriosus 2 ISO RGD:1314875 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Patent ductus arteriosus 2 PMID:15684060|PMID:18752453|PMID:20301285|PMID:21643846 8882591 Tfap2b transcription factor AP-2 beta gene DOID:9004795 Congenital Hand Deformities ISO RGD:1314875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10802654 8882591 Tfap2b transcription factor AP-2 beta gene DOID:9007633 Body Weight ISO RGD:1314875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 8882591 Tfap2b transcription factor AP-2 beta gene DOID:9007692 Insulin Resistance ISO RGD:1314875 D RGD:9068941 20200609 RGD PMID:16373417|REF_RGD_ID:1601544 8882591 Tfap2b transcription factor AP-2 beta gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1314875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 8882591 Tfap2b transcription factor AP-2 beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1314875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10802654 8882614 Map1b microtubule associated protein 1B gene DOID:0050454 periventricular nodular heterotopia ISO RGD:733041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia PMID:25741868|PMID:29738522|PMID:30150678 8882614 Map1b microtubule associated protein 1B gene DOID:0060041 autism spectrum disorder ISO RGD:733041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30150678 8882614 Map1b microtubule associated protein 1B gene DOID:11832 visual epilepsy ISO RGD:3043 D RGD:9068941 20220728 RGD mRNA, protein:altered localization:brain PMID:11395167|REF_RGD_ID:2304062 8882614 Map1b microtubule associated protein 1B gene DOID:11832 visual epilepsy ISO RGD:3043 D RGD:9068941 20220728 RGD mRNA:increased expression:hippocampus PMID:12598335|REF_RGD_ID:2304015 8882614 Map1b microtubule associated protein 1B gene DOID:1459 hypothyroidism ISO RGD:3043 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum PMID:3252178|REF_RGD_ID:2304042 8882614 Map1b microtubule associated protein 1B gene DOID:1826 epilepsy ISO RGD:733041 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8882614 Map1b microtubule associated protein 1B gene DOID:630 genetic disease ISO RGD:733041 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8882614 Map1b microtubule associated protein 1B gene DOID:9000039 Spinal Cord Injuries ISO RGD:3043 D RGD:9068941 20200609 RGD protein:increased phosphorylation:spinal cord, neuron PMID:17880387|REF_RGD_ID:2304007 8882614 Map1b microtubule associated protein 1B gene DOID:9000998 Brain Injuries ISO RGD:3043 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:brain PMID:10906717|REF_RGD_ID:2304029 8882614 Map1b microtubule associated protein 1B gene DOID:9001401 Periventricular Nodular Heterotopia 9 ISO RGD:733041 D RGD:7240710 20200701 OMIM 8882614 Map1b microtubule associated protein 1B gene DOID:9001401 Periventricular Nodular Heterotopia 9 ISO RGD:733041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MAP1B-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 9 PMID:25741868|PMID:28492532|PMID:29738522|PMID:30150678|PMID:30979967|PMID:31317654|PMID:33268592 8882614 Map1b microtubule associated protein 1B gene DOID:9003741 Autosomal Dominant Nonsyndromic Deafness 83 ISO RGD:733041 D RGD:7240710 20220413 OMIM 8882614 Map1b microtubule associated protein 1B gene DOID:9003741 Autosomal Dominant Nonsyndromic Deafness 83 ISO RGD:733041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 83 PMID:25741868|PMID:33268592 8882614 Map1b microtubule associated protein 1B gene DOID:9003816 Macrocephaly ISO RGD:733041 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 8882614 Map1b microtubule associated protein 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30150678 8882614 Map1b microtubule associated protein 1B gene DOID:9008086 Developmental Disabilities ISO RGD:733041 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30979967 8882628 Il17rb interleukin 17 receptor B gene DOID:2841 asthma ISO RGD:1622351 D RGD:9068941 20201218 RGD associated with Picornaviridae Infections PMID:25273095|REF_RGD_ID:39128256 8882628 Il17rb interleukin 17 receptor B gene DOID:630 genetic disease ISO RGD:1322830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882643 Smdt1 single-pass membrane protein with aspartate rich tail 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602445 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8882643 Smdt1 single-pass membrane protein with aspartate rich tail 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1602445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 8882643 Smdt1 single-pass membrane protein with aspartate rich tail 1 gene DOID:1059 intellectual disability ISO RGD:1602445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8882643 Smdt1 single-pass membrane protein with aspartate rich tail 1 gene DOID:630 genetic disease ISO RGD:1602445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882643 Smdt1 single-pass membrane protein with aspartate rich tail 1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1602445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8882655 Itpripl2 ITPRIP like 2 gene DOID:630 genetic disease ISO RGD:1604732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882660 Rtca RNA 3'-terminal phosphate cyclase gene DOID:630 genetic disease ISO RGD:1344520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882660 Rtca RNA 3'-terminal phosphate cyclase gene DOID:9269 maple syrup urine disease ISO RGD:1344520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8882687 Lonrf1 LON peptidase N-terminal domain and ring finger 1 gene DOID:630 genetic disease ISO RGD:1605309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882702 Brd8 bromodomain containing 8 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1307003 D RGD:9068941 20200609 RGD PMID:19787264|REF_RGD_ID:9587763 8882702 Brd8 bromodomain containing 8 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1315939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8882702 Brd8 bromodomain containing 8 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8882702 Brd8 bromodomain containing 8 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1315939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8882702 Brd8 bromodomain containing 8 gene DOID:289 endometriosis ISO RGD:1315939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8882702 Brd8 bromodomain containing 8 gene DOID:630 genetic disease ISO RGD:1315939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882702 Brd8 bromodomain containing 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8882702 Brd8 bromodomain containing 8 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8882745 CDH1 cadherin 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:737413 D RGD:9068941 20240321 RGD DNA:polymorphism:promoter:-160C>A (human) PMID:17656222|REF_RGD_ID:2289493 8882745 Cdh1 cadherin 1 gene DOID:0050567 orofacial cleft ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft PMID:12800196|PMID:20921021|PMID:22470475|PMID:23197654|PMID:24033266|PMID:2449335|PMID:24493355|PMID:24728327|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26467025|PMID:26483394|PMID:26759166|PMID:27146957|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28640387|PMID:28944238|PMID:29348693|PMID:29589180|PMID:30311375|PMID:32260281|PMID:36436516 8882745 Cdh1 cadherin 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD PMID:26464646|REF_RGD_ID:11526681 8882745 Cdh1 cadherin 1 gene DOID:0050938 breast lobular carcinoma ISO RGD:737413 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast lobular carcinoma PMID:15235021|PMID:17660459|PMID:20373070|PMID:24763289|PMID:25186627|PMID:25741868|PMID:26270727|PMID:26467025|PMID:28492532|PMID:30311375|PMID:36436516|PMID:36988593|PMID:8557030|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19184424 8882745 Cdh1 cadherin 1 gene DOID:0060794 hypomyelinating leukodystrophy 7 ISO RGD:737413 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: 4h syndrome PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311375|PMID:36436516 8882745 Cdh1 cadherin 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8882745 Cdh1 cadherin 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682 8882745 Cdh1 cadherin 1 gene DOID:0080287 spinocerebellar ataxia 45 ISO RGD:737413 D RGD:8554872 20231017 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 45 PMID:25741868 8882745 Cdh1 cadherin 1 gene DOID:0080345 blepharocheilodontic syndrome 1 ISO RGD:737413 D RGD:7240710 20240320 OMIM 8882745 Cdh1 cadherin 1 gene DOID:0080345 blepharocheilodontic syndrome 1 ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27566442|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28301459|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28688938|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29470806|PMID:29492670|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:34471991|PMID:35089076|PMID:36436516|PMID:36605468|PMID:36988593|PMID:8075649|PMID:9537325|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:0080449 developmental and epileptic encephalopathy 16 ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16 PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31465090 8882745 Cdh1 cadherin 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:737413 D RGD:7240710 20240320 OMIM 8882745 Cdh1 cadherin 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:737413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CDH1-related diffuse gastric and lobular breast cancer syndrome | ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:10037790|PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10433926|PMID:10439038|PMID:10477433|PMID:10830618|PMID:10896919|PMID:10973239|PMID:11104024|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11434599|PMID:11443625|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:11996968|PMID:12096341|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14033926|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14961571|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15288293|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15780560|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16189707|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16571431|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:1722187|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:17726045|PMID:17955726|PMID:17979184|PMID:18035404|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18491227|PMID:18726070|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19168852|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19268662|PMID:19269290|PMID:19408054|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20471195|PMID:20616022|PMID:20624523|PMID:20719348|PMID:20824432|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21331337|PMID:21424370|PMID:21432908|PMID:21459793|PMID:21520333|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21853084|PMID:21876083|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22118538|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22799331|PMID:22850631|PMID:22875147|PMID:22901170|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23124477|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23713947|PMID:23752020|PMID:23812922|PMID:24033266|PMID:2403327|PMID:24037103|PMID:24055113|PMID:24113346|PMID:24204729|PMID:24326041|PMID:24333020|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24506336|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25326637|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25583476|PMID:25593300|PMID:25637381|PMID:25640679|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26437033|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26643573|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26901067|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27192129|PMID:27203386|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27512640|PMID:27566442|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27624909|PMID:27682646|PMID:27720647|PMID:27730413|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28061482|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815 8882745 Cdh1 cadherin 1 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:737413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CDH1-related diffuse gastric and lobular breast cancer syndrome | ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28460635|PMID:28487081|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28529006|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29231860|PMID:29263802|PMID:29295527|PMID:29307626|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29492670|PMID:29511593|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30007404|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30239046|PMID:30256826|PMID:30264118|PMID:3028782|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30466290|PMID:30542785|PMID:30563991|PMID:30613976|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:30982232|PMID:31054147|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31263571|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31589614|PMID:31600923|PMID:31638429|PMID:31642931|PMID:31742824|PMID:31780696|PMID:31783775|PMID:31784482|PMID:31815095|PMID:31841163|PMID:31843900|PMID:31871109|PMID:31942411|PMID:31986421|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32489267|PMID:32521533|PMID:32529019|PMID:32566746|PMID:32658311|PMID:32701958|PMID:32720237|PMID:32770675|PMID:32811340|PMID:32842532|PMID:32885271|PMID:32886433|PMID:32906206|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33268956|PMID:33309985|PMID:33322525|PMID:33332384|PMID:33365374|PMID:33436027|PMID:33471991|PMID:33619332|PMID:33809393|PMID:33929593|PMID:33980423|PMID:34130653|PMID:34201547|PMID:34250417|PMID:34267306|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34426522|PMID:34471991|PMID:34486077|PMID:34503169|PMID:34503274|PMID:34537906|PMID:34541275|PMID:34643667|PMID:34690920|PMID:3471991|PMID:34949788|PMID:35070997|PMID:35089076|PMID:35171259|PMID:35172483|PMID:35264596|PMID:35327954|PMID:35418818|PMID:35534704|PMID:36243179|PMID:36436516|PMID:36509094|PMID:36605468|PMID:36833207|PMID:36988593|PMID:8075649|PMID:8127895|PMID:8557030|PMID:8598933|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 8882745 Cdh1 cadherin 1 gene DOID:0111627 DOORS syndrome ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31465090 8882745 Cdh1 cadherin 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:21106365|PMID:24326041|PMID:24755471|PMID:25231023|PMID:25741868|PMID:25980754|PMID:26182300|PMID:26467025|PMID:26893459|PMID:27582386|PMID:27621404|PMID:28492532|PMID:29577179|PMID:30311375|PMID:34471991|PMID:36436516 8882745 Cdh1 cadherin 1 gene DOID:10283 prostate cancer ISO RGD:737413 D RGD:7240710 20240320 OMIM 8882745 Cdh1 cadherin 1 gene DOID:10283 prostate cancer ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:11968083|PMID:12588804|PMID:12800196|PMID:14500541|PMID:14961571|PMID:15235021|PMID:15322508|PMID:15750927|PMID:16061854|PMID:16189707|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:1722187|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:18788075|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23431106|PMID:23709761|PMID:24033266|PMID:2403327|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24817184|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135048|PMID:28135145|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28688938|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29492670|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31843900|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:34471991|PMID:35089076|PMID:36436516|PMID:36605468|PMID:36988593|PMID:8075649|PMID:9537325|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:18056176|REF_RGD_ID:2289487 8882745 Cdh1 cadherin 1 gene DOID:10534 stomach cancer ISO RGD:737413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Gastric cancer, familial diffuse, and cleft lip with or without cleft palate | ClinVar Annotator: match by term: Stomach cancer PMID:10072428|PMID:11948460|PMID:15235021|PMID:15831593|PMID:16061854|PMID:16199547|PMID:17221870|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17726045|PMID:18427545|PMID:18442100|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20373070|PMID:20719348|PMID:21271559|PMID:21424370|PMID:21681551|PMID:22723466|PMID:23264079|PMID:23709761|PMID:25741868|PMID:26025002|PMID:26072394|PMID:26182300|PMID:26467025|PMID:27682646|PMID:27880784|PMID:27995193|PMID:28492532|PMID:28688938|PMID:29025585|PMID:29769627|PMID:30287823|PMID:30311375|PMID:30426508|PMID:30745422|PMID:31514334|PMID:31589614|PMID:32362280|PMID:33268956|PMID:33471991|PMID:34949788|PMID:36436516|PMID:36988593|PMID:8557030|PMID:9536098|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:10629 microphthalmia ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:21106365|PMID:24326041|PMID:24755471|PMID:25231023|PMID:25741868|PMID:25980754|PMID:26182300|PMID:26467025|PMID:26893459|PMID:27582386|PMID:27621404|PMID:28492532|PMID:29577179|PMID:30311375|PMID:34471991|PMID:36436516 8882745 Cdh1 cadherin 1 gene DOID:11054 urinary bladder cancer ISO RGD:69279 D RGD:9068941 20200609 RGD Protein:increased expression:cytoplasm PMID:17167984|REF_RGD_ID:1599549 8882745 Cdh1 cadherin 1 gene DOID:11054 urinary bladder cancer ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682|PMID:26901067 8882745 Cdh1 cadherin 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:17760743|REF_RGD_ID:2289491 8882745 Cdh1 cadherin 1 gene DOID:1380 endometrial cancer ISO RGD:737413 D RGD:7240710 20240320 OMIM 8882745 Cdh1 cadherin 1 gene DOID:1520 colon carcinoma ISO RGD:737413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:25583476|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:34326862 8882745 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:7240710 20240320 OMIM 8882745 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32566746|PMID:32658311|PMID:33471991|PMID:8075649|PMID:8557030 8882745 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32426482|PMID:32566746|PMID:32658311|PMID:33471991|PMID:8075649|PMID:8557030 8882745 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30311375|PMID:30661051|PMID:30745422|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030 8882745 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030 8882745 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15735979|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23290073|PMID:23431106|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030 8882745 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:8075649|PMID:8557030|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34537906|PMID:36988593|PMID:8075649|PMID:8557030|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:1722187|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:2403327|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28529006|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34503274|PMID:34537906|PMID:34949788|PMID:36436516|PMID:36988593|PMID:8075649|PMID:8557030|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:1722187|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:2403327|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28529006|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34503274|PMID:34537906|PMID:34949788|PMID:36243179|PMID:36436516|PMID:36988593|PMID:8075649|PMID:8557030|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:1612 breast cancer ISO RGD:737413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:11196175|PMID:11241409|PMID:11598162|PMID:11857408|PMID:11968083|PMID:12096341|PMID:12588804|PMID:14500541|PMID:15235021|PMID:15288293|PMID:15735979|PMID:16199547|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:1722187|PMID:17221870|PMID:17224074|PMID:17510211|PMID:17545690|PMID:17660459|PMID:18772194|PMID:18788075|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21853084|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23124477|PMID:23197654|PMID:23290073|PMID:23431106|PMID:23709761|PMID:24033266|PMID:2403327|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24817184|PMID:25067988|PMID:25186627|PMID:25231023|PMID:25344691|PMID:25388006|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26270727|PMID:26467025|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26845104|PMID:26893459|PMID:26911350|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28352678|PMID:28492532|PMID:28522256|PMID:28529006|PMID:28767289|PMID:28873162|PMID:29131691|PMID:29263802|PMID:29368341|PMID:29454568|PMID:29522266|PMID:29577179|PMID:29926297|PMID:30014492|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30661051|PMID:30745422|PMID:30982232|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31638429|PMID:31843900|PMID:31986421|PMID:32241597|PMID:32260281|PMID:32283892|PMID:32426482|PMID:32566746|PMID:32658311|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33809393|PMID:34471991|PMID:34486077|PMID:34503274|PMID:34537906|PMID:34949788|PMID:36243179|PMID:36436516|PMID:36988593|PMID:8075649|PMID:8557030|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682 8882745 Cdh1 cadherin 1 gene DOID:1793 pancreatic cancer ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18223216 8882745 Cdh1 cadherin 1 gene DOID:219 colon cancer ISO RGD:737413 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Malignant tumor of colon PMID:15235021|PMID:16924464|PMID:17545690|PMID:19268661|PMID:20233471|PMID:22470475|PMID:22703879|PMID:24204729|PMID:24373500|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26486520|PMID:27153395|PMID:27582386|PMID:28492532|PMID:28767289|PMID:29131691|PMID:29926297|PMID:30311375|PMID:32906206|PMID:33471991|PMID:36436516 8882745 Cdh1 cadherin 1 gene DOID:2394 ovarian cancer ISO RGD:737413 D RGD:7240710 20240320 OMIM 8882745 Cdh1 cadherin 1 gene DOID:2394 ovarian cancer ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:17126523|PMID:17434710|PMID:19268661|PMID:23435907|PMID:24493355|PMID:25741868|PMID:25927356|PMID:26467025|PMID:27276934|PMID:27582386|PMID:28135048|PMID:28492532|PMID:28580595|PMID:28649662|PMID:28767289|PMID:28873162|PMID:30287823|PMID:30311375|PMID:31642931|PMID:31815095|PMID:32091409|PMID:32521533|PMID:33471991|PMID:36436516 8882745 Cdh1 cadherin 1 gene DOID:2841 asthma ISO RGD:737413 D RGD:9068941 20200609 RGD PMID:21540309|REF_RGD_ID:5132878 8882745 Cdh1 cadherin 1 gene DOID:2871 endometrial carcinoma ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28352678|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28688938|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29492670|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:34471991|PMID:35089076|PMID:36436516|PMID:36605468|PMID:36988593|PMID:8075649|PMID:9537325|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17660459|PMID:8557030 8882745 Cdh1 cadherin 1 gene DOID:305 carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:17520682|PMID:8075649 8882745 Cdh1 cadherin 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31465090 8882745 Cdh1 cadherin 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD PMID:18213475|REF_RGD_ID:2289450 8882745 Cdh1 cadherin 1 gene DOID:3457 invasive lobular carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:nonsense mutation: :517insA (human) PMID:17660459|REF_RGD_ID:2289492 8882745 Cdh1 cadherin 1 gene DOID:3459 breast carcinoma ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:25741868|PMID:28492532|PMID:29805042 8882745 Cdh1 cadherin 1 gene DOID:3571 liver cancer ISO RGD:737414 D RGD:9068941 20220623 RGD mRNA:increased expression:liver (mouse) PMID:25319454|REF_RGD_ID:152995431 8882745 Cdh1 cadherin 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:737413 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10896919|PMID:11968083|PMID:12588804|PMID:12944922|PMID:14500541|PMID:14562278|PMID:16112667|PMID:16527687|PMID:16929514|PMID:17510211|PMID:19247957|PMID:19268661|PMID:19269290|PMID:21989054|PMID:22850631|PMID:24690483|PMID:24784840|PMID:25180051|PMID:25187893|PMID:25388006|PMID:25741868|PMID:25856671|PMID:26072394|PMID:26467025|PMID:26822949|PMID:27121310|PMID:27582386|PMID:28492532|PMID:28503720|PMID:28580595|PMID:29752822|PMID:30287823|PMID:30311375|PMID:36436516 8882745 Cdh1 cadherin 1 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:737413 D RGD:9068941 20210409 RGD mRNA:decreased expression:mucosa of stomach (human) PMID:24293408|REF_RGD_ID:125097521 8882745 Cdh1 cadherin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69279 D RGD:9068941 20200609 RGD PMID:20495078|REF_RGD_ID:5132892 8882745 Cdh1 cadherin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:737413 D RGD:9068941 20200609 RGD PMID:20495078|REF_RGD_ID:5132892 8882745 Cdh1 cadherin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:737414 D RGD:9068941 20200609 RGD PMID:16924102|REF_RGD_ID:5132890 8882745 Cdh1 cadherin 1 gene DOID:3910 lung adenocarcinoma ISO RGD:69279 D RGD:9068941 20200609 RGD DNA:increased methylation PMID:16329148|REF_RGD_ID:1599556 8882745 Cdh1 cadherin 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:25520863|REF_RGD_ID:13792554 8882745 Cdh1 cadherin 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:kidney, nucleus PMID:17906660|REF_RGD_ID:2289489 8882745 Cdh1 cadherin 1 gene DOID:4450 renal cell carcinoma onset ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:LOH: : PMID:15203750|REF_RGD_ID:7242059 8882745 Cdh1 cadherin 1 gene DOID:4531 mucoepidermoid carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:15999364|REF_RGD_ID:9588574 8882745 Cdh1 cadherin 1 gene DOID:5082 liver cirrhosis ISO RGD:737413 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 8882745 Cdh1 cadherin 1 gene DOID:5199 ureteral obstruction ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 8882745 Cdh1 cadherin 1 gene DOID:557 kidney disease ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 8882745 Cdh1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:31600923|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:33471991|PMID:8075649|PMID:9537325|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33471991|PMID:8075649|PMID:9537325 8882745 Cdh1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33471991|PMID:33929593|PMID:8075649|PMID:9537325 8882745 Cdh1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15173255|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16801346|PMID:16924464|PMID:16929514|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:23435907|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33471991|PMID:33929593|PMID:8075649|PMID:9537325 8882745 Cdh1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15173255|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16801346|PMID:16924464|PMID:16929514|PMID:1722187|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:23435907|PMID:24033266|PMID:2403327|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32566746|PMID:32906206|PMID:33309985|PMID:33471991|PMID:33929593|PMID:34537906|PMID:36243179|PMID:36436516|PMID:8075649|PMID:9537325 8882745 Cdh1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15173255|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16801346|PMID:16924464|PMID:16929514|PMID:1722187|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:23435907|PMID:24033266|PMID:2403327|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29589180|PMID:29752822|PMID:29926297|PMID:30239046|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32295625|PMID:32566746|PMID:32906206|PMID:33309985|PMID:33471991|PMID:33929593|PMID:34471991|PMID:34537906|PMID:36243179|PMID:36436516|PMID:8075649|PMID:9537325|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10896919|PMID:11305955|PMID:11598162|PMID:11948460|PMID:11968083|PMID:12216071|PMID:12588804|PMID:12800196|PMID:12944922|PMID:14500541|PMID:14562278|PMID:15173255|PMID:15235021|PMID:15750927|PMID:16112667|PMID:16527687|PMID:16801346|PMID:16924464|PMID:16929514|PMID:1722187|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17545690|PMID:17668349|PMID:18788075|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20921021|PMID:21106365|PMID:21989054|PMID:22006311|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23197654|PMID:23431106|PMID:23435907|PMID:24033266|PMID:2403327|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24373500|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24784840|PMID:24817184|PMID:25067988|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25388006|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25856671|PMID:25862857|PMID:25980754|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26534844|PMID:26580448|PMID:26601054|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26976419|PMID:27121310|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29212164|PMID:29348693|PMID:29470806|PMID:29577179|PMID:29589180|PMID:29752822|PMID:29926297|PMID:30239046|PMID:30287823|PMID:30311375|PMID:30661051|PMID:31600923|PMID:31638429|PMID:31843900|PMID:31871109|PMID:32241597|PMID:32295625|PMID:32566746|PMID:32906206|PMID:33309985|PMID:33471991|PMID:33929593|PMID:34471991|PMID:34537906|PMID:35171259|PMID:36243179|PMID:36436516|PMID:8075649|PMID:9537325|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:630 genetic disease ISO RGD:737413 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32260281 8882745 Cdh1 cadherin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69279 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17295234|REF_RGD_ID:2289638 8882745 Cdh1 cadherin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:30697077|REF_RGD_ID:14402045 8882745 Cdh1 cadherin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737413 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:30697077|REF_RGD_ID:14402045 8882745 Cdh1 cadherin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:18837082|REF_RGD_ID:14402047 8882745 Cdh1 cadherin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737414 D RGD:9068941 20200609 RGD PMID:24840851|REF_RGD_ID:14402046 8882745 Cdh1 cadherin 1 gene DOID:687 hepatoblastoma ISO RGD:737413 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16465411|REF_RGD_ID:14402053 8882745 Cdh1 cadherin 1 gene DOID:8577 ulcerative colitis ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 8882745 Cdh1 cadherin 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 8882745 Cdh1 cadherin 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:uterine cervix PMID:17894941|REF_RGD_ID:2289490 8882745 Cdh1 cadherin 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737413 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17649807|REF_RGD_ID:2289498 8882745 Cdh1 cadherin 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737413 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:18097581|REF_RGD_ID:2296046 8882745 Cdh1 cadherin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric neoplasm | ClinVar Annotator: match by term: Neoplasm of stomach PMID:12216071|PMID:12944922|PMID:14500541|PMID:15235021|PMID:16112667|PMID:16924464|PMID:17261850|PMID:17668349|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:20921021|PMID:21989054|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23425907|PMID:23435907|PMID:24055113|PMID:24204729|PMID:24373500|PMID:24728327|PMID:25388006|PMID:25637381|PMID:25741868|PMID:25927356|PMID:25980754|PMID:26072394|PMID:26182300|PMID:26467025|PMID:26692440|PMID:26759166|PMID:27153395|PMID:27582386|PMID:28492532|PMID:28503720|PMID:28767289|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:32566746|PMID:33471991 8882745 Cdh1 cadherin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:737413 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:12216071|PMID:12944922|PMID:14500541|PMID:15235021|PMID:16112667|PMID:16924464|PMID:17261850|PMID:17545690|PMID:17668349|PMID:19017792|PMID:19247957|PMID:19268661|PMID:19269290|PMID:20233471|PMID:20921021|PMID:21989054|PMID:22470475|PMID:22703879|PMID:22850631|PMID:23435907|PMID:24055113|PMID:24204729|PMID:24373500|PMID:24728327|PMID:25388006|PMID:25637381|PMID:25741868|PMID:25927356|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26467025|PMID:26486520|PMID:26692440|PMID:26759166|PMID:27153395|PMID:27582386|PMID:28492532|PMID:28503720|PMID:28767289|PMID:28975465|PMID:29050249|PMID:29131691|PMID:29752822|PMID:29926297|PMID:30287823|PMID:30311375|PMID:31642931|PMID:32521533|PMID:32566746|PMID:32906206|PMID:33471991|PMID:36436516 8882745 Cdh1 cadherin 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8882745 Cdh1 cadherin 1 gene DOID:9000784 Fibrosis ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 8882745 Cdh1 cadherin 1 gene DOID:9000918 Disease Progression ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 8882745 Cdh1 cadherin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682|PMID:22580338 8882745 Cdh1 cadherin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737413 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18008331|REF_RGD_ID:2289488 8882745 Cdh1 cadherin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737413 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 8882745 Cdh1 cadherin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69279 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 8882745 Cdh1 cadherin 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118494|PMID:25319454 8882745 Cdh1 cadherin 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27224422 8882745 Cdh1 cadherin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16813949|PMID:22581815|PMID:29295717|PMID:29610475 8882745 Cdh1 cadherin 1 gene DOID:9002467 Mycoplasma Infections ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179380 8882745 Cdh1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11747475|PMID:15235021|PMID:19139070|PMID:20373070|PMID:22470475|PMID:23709761|PMID:24728327|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26467025|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28166811|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28961279|PMID:28993866|PMID:29522266|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:31159747|PMID:31871109|PMID:32566746|PMID:8075649 8882745 Cdh1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29522266|PMID:29577179|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:35089076|PMID:8075649|PMID:9537325 8882745 Cdh1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11305955|PMID:11332401|PMID:11598162|PMID:11747475|PMID:11948460|PMID:12588804|PMID:12800196|PMID:14500541|PMID:15235021|PMID:16061854|PMID:16501831|PMID:16787116|PMID:16801346|PMID:16924464|PMID:17221870|PMID:17522512|PMID:17545690|PMID:18442100|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:20233471|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:22470475|PMID:22703879|PMID:22723466|PMID:23197654|PMID:23264079|PMID:23709761|PMID:24033266|PMID:24204729|PMID:24326041|PMID:2449335|PMID:24493355|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27146957|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28608266|PMID:28640387|PMID:28688938|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29348693|PMID:29492670|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:30089731|PMID:30287823|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:31159747|PMID:31514334|PMID:31589614|PMID:31742824|PMID:31871109|PMID:32269045|PMID:32283892|PMID:32566746|PMID:32658311|PMID:32842532|PMID:33193653|PMID:33471991|PMID:33619332|PMID:33980423|PMID:34471991|PMID:35089076|PMID:36436516|PMID:36605468|PMID:36988593|PMID:8075649|PMID:9537325|PMID:9744472 8882745 Cdh1 cadherin 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:*54C>T (human) PMID:18035404|REF_RGD_ID:2289494 8882745 Cdh1 cadherin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12387456 8882745 Cdh1 cadherin 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520682 8882745 Cdh1 cadherin 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:uterine cervix PMID:17894941|REF_RGD_ID:2289490 8882745 Cdh1 cadherin 1 gene DOID:9003566 Mesothelioma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718 8882745 Cdh1 cadherin 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:737413 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:18295959|REF_RGD_ID:2296045 8882745 Cdh1 cadherin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19839049|PMID:22580338 8882745 Cdh1 cadherin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8882745 Cdh1 cadherin 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961571|PMID:16189707 8882745 Cdh1 cadherin 1 gene DOID:9007063 Myoclonic Epilepsy, Familial Infantile ISO RGD:737413 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31465090 8882745 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037790|PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11419427|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12096341|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14158754|PMID:14500541|PMID:14562278|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15288293|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18726070|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19408054|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21331337|PMID:21424370|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23124477|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23425907|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27730413|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28460635|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30264118 8882745 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30542785|PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32318955|PMID:32362280|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32957588|PMID:32980694|PMID:33471991|PMID:34299313|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 8882745 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14630673|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30542785 8882745 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33322525|PMID:33365374|PMID:33471991|PMID:34299313|PMID:34359559|PMID:34537906|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 8882745 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14630673|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24055113|PMID:24204729|PMID:24326041|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249|PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30239046|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508 8882745 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30542785|PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33322525|PMID:33365374|PMID:33471991|PMID:34299313|PMID:34359559|PMID:34537906|PMID:34690920|PMID:35172483|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 8882745 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30542785|PMID:30563991|PMID:30661051|PMID:30716324|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31600923|PMID:31642931|PMID:31780696|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32068069|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32770675|PMID:32885271|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33322525|PMID:33365374|PMID:33471991|PMID:33809393|PMID:34299313|PMID:34359559|PMID:34537906|PMID:34690920|PMID:35172483|PMID:8075649|PMID:8127895|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 8882745 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10037790|PMID:10072428|PMID:10094558|PMID:10211998|PMID:10319582|PMID:10357799|PMID:10433926|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11104024|PMID:11196175|PMID:11241409|PMID:11305955|PMID:11313896|PMID:11332401|PMID:11419427|PMID:11434599|PMID:11598162|PMID:11665720|PMID:11705864|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968083|PMID:11968084|PMID:12096341|PMID:12216071|PMID:12414534|PMID:12532420|PMID:12588804|PMID:12647996|PMID:12800196|PMID:12944922|PMID:14033926|PMID:14158754|PMID:14500541|PMID:14562278|PMID:14630673|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15288293|PMID:15313375|PMID:15322508|PMID:15457549|PMID:15735979|PMID:15750927|PMID:15780560|PMID:15831593|PMID:16061854|PMID:16112667|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16571431|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16929514|PMID:16997156|PMID:17126523|PMID:1722187|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17434710|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17634464|PMID:17660459|PMID:17668349|PMID:17726045|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18726070|PMID:18772194|PMID:18788075|PMID:19011631|PMID:19017792|PMID:19139070|PMID:19168852|PMID:19223545|PMID:19247957|PMID:19268661|PMID:19269290|PMID:19408054|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20719348|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21331337|PMID:21424370|PMID:21520333|PMID:21681551|PMID:21696387|PMID:21777349|PMID:21853084|PMID:21989054|PMID:22006311|PMID:22020549|PMID:22098830|PMID:22152101|PMID:22225527|PMID:22252131|PMID:22470475|PMID:22543498|PMID:22703879|PMID:22722829|PMID:22722839|PMID:22723466|PMID:22752307|PMID:22788692|PMID:22850631|PMID:22875147|PMID:22911296|PMID:22941188|PMID:23073328|PMID:23124477|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23290073|PMID:23431106|PMID:23435907|PMID:23555086|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:2403327|PMID:24055113|PMID:24113346|PMID:24204729|PMID:24326041|PMID:24333020|PMID:24366306|PMID:24373500|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24506336|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:24763289|PMID:24784840|PMID:24817184|PMID:24969172|PMID:25067988|PMID:25123297|PMID:25142776|PMID:25180051|PMID:25186627|PMID:25187893|PMID:25231023|PMID:25275298|PMID:25315765|PMID:25318351|PMID:25326637|PMID:25344691|PMID:25388006|PMID:25525159|PMID:25583476|PMID:25593300|PMID:25637381|PMID:25648022|PMID:25741868|PMID:25771876|PMID:25819062|PMID:25856671|PMID:25862857|PMID:25882375|PMID:25927356|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26025002|PMID:26072394|PMID:26086041|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26296696|PMID:26437033|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26486520|PMID:26517685|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26674224|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26707089|PMID:26757417|PMID:26759166|PMID:26822949|PMID:26845104|PMID:26893459|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27064202|PMID:27121310|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27203386|PMID:27227907|PMID:27276934|PMID:27284491|PMID:27392081|PMID:27443514|PMID:27477802|PMID:27498913|PMID:27499925|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27720647|PMID:27730413|PMID:27752808|PMID:27760322|PMID:27824116|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28061482|PMID:28125075|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28301460|PMID:28338653|PMID:28352678|PMID:28460635|PMID:28487081|PMID:28492532|PMID:28503720|PMID:28522256|PMID:28522829|PMID:28529006|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28640387|PMID:28649662|PMID:28688938|PMID:28699883|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28975465|PMID:28993866|PMID:29016666|PMID:29025585|PMID:29050249 8882745 Cdh1 cadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737413 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29131691|PMID:29156750|PMID:29212164|PMID:29263802|PMID:29295527|PMID:29307626|PMID:29338689|PMID:29348693|PMID:29368341|PMID:29371908|PMID:29416795|PMID:29431110|PMID:29454568|PMID:29470806|PMID:29492670|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29785153|PMID:29798843|PMID:29805042|PMID:29926297|PMID:29928469|PMID:30014492|PMID:30089731|PMID:30093976|PMID:30239046|PMID:30256826|PMID:30264118|PMID:3028782|PMID:30287823|PMID:30306255|PMID:30306390|PMID:30311375|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30466290|PMID:30542785|PMID:30563991|PMID:30613976|PMID:30661051|PMID:30716324|PMID:30730459|PMID:30745422|PMID:30895400|PMID:30935944|PMID:30982232|PMID:31054147|PMID:31077828|PMID:31159747|PMID:31206626|PMID:31246251|PMID:31263571|PMID:31296550|PMID:31422574|PMID:31465090|PMID:31511843|PMID:31514334|PMID:31589614|PMID:31600923|PMID:31638429|PMID:31642931|PMID:31742824|PMID:31780696|PMID:31783775|PMID:31784482|PMID:31815095|PMID:31841163|PMID:31843900|PMID:31871109|PMID:31942411|PMID:31986421|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32133419|PMID:32147272|PMID:32175104|PMID:32241597|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32426482|PMID:32427313|PMID:32489267|PMID:32521533|PMID:32529019|PMID:32566746|PMID:32658311|PMID:32701958|PMID:32720237|PMID:32770675|PMID:32811340|PMID:32842532|PMID:32885271|PMID:32886433|PMID:32906206|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32980694|PMID:33193653|PMID:33268956|PMID:33309985|PMID:33322525|PMID:33332384|PMID:33365374|PMID:33436027|PMID:33471991|PMID:33619332|PMID:33809393|PMID:33929593|PMID:33980423|PMID:34130653|PMID:34250417|PMID:34267306|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34426522|PMID:34471991|PMID:34486077|PMID:34503169|PMID:34503274|PMID:34537906|PMID:34541275|PMID:34643667|PMID:34690920|PMID:3471991|PMID:34949788|PMID:35070997|PMID:35089076|PMID:35171259|PMID:35172483|PMID:35264596|PMID:35327954|PMID:35418818|PMID:35534704|PMID:36243179|PMID:36436516|PMID:36509094|PMID:36605468|PMID:36833207|PMID:36988593|PMID:8075649|PMID:8127895|PMID:8557030|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 8882745 Cdh1 cadherin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 8882745 Cdh1 cadherin 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8075649 8882745 Cdh1 cadherin 1 gene DOID:9007809 Neoplasm Seeding ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27224422 8882745 Cdh1 cadherin 1 gene DOID:9008114 Helicobacter Infections ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19184424 8882745 Cdh1 cadherin 1 gene DOID:9008138 Ductal Carcinoma ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 8882745 Cdh1 cadherin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10072428|PMID:19011631 8882745 Cdh1 cadherin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:737413 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast tumor PMID:11305955|PMID:22703879|PMID:24728327|PMID:25741868|PMID:26072394|PMID:28492532|PMID:30311375|PMID:36436516 8882745 Cdh1 cadherin 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:737413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10037790|PMID:10072428|PMID:10094558|PMID:10319582|PMID:10477433|PMID:10896919|PMID:10973239|PMID:11305955|PMID:11332401|PMID:11419427|PMID:11443625|PMID:11598162|PMID:11665720|PMID:11747475|PMID:11857408|PMID:11948460|PMID:11968084|PMID:12588804|PMID:12647996|PMID:12800196|PMID:14500541|PMID:15138207|PMID:15173255|PMID:15235021|PMID:15457549|PMID:15780560|PMID:15831593|PMID:16061854|PMID:16199547|PMID:16501831|PMID:16527687|PMID:16787116|PMID:16801346|PMID:16924464|PMID:16997156|PMID:17221870|PMID:17224074|PMID:17261850|PMID:17510211|PMID:17522512|PMID:17545690|PMID:17576681|PMID:17726045|PMID:18046629|PMID:18391748|PMID:18427545|PMID:18442100|PMID:18726070|PMID:18788075|PMID:19139070|PMID:19268661|PMID:19269290|PMID:19725995|PMID:19965908|PMID:20066110|PMID:20233471|PMID:20371349|PMID:20373070|PMID:20471195|PMID:20624523|PMID:20719348|PMID:20824432|PMID:20921021|PMID:21106365|PMID:21271559|PMID:21424370|PMID:21520333|PMID:21681551|PMID:21696387|PMID:22020549|PMID:22098830|PMID:22118538|PMID:22225527|PMID:22470475|PMID:22703879|PMID:22723466|PMID:22788692|PMID:22850631|PMID:2317870|PMID:23197654|PMID:23264079|PMID:23575477|PMID:23709761|PMID:23752020|PMID:24033266|PMID:24204729|PMID:24326041|PMID:24333020|PMID:24389957|PMID:24424122|PMID:2449335|PMID:24493355|PMID:24506336|PMID:24556621|PMID:24690483|PMID:24728327|PMID:24755471|PMID:25067988|PMID:25123297|PMID:25186627|PMID:25231023|PMID:25315765|PMID:25388006|PMID:25525159|PMID:25593300|PMID:25637381|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25980754|PMID:26025002|PMID:26072394|PMID:26123647|PMID:26182300|PMID:26206375|PMID:26270727|PMID:26467025|PMID:26483394|PMID:26486520|PMID:26556299|PMID:26580448|PMID:26601054|PMID:26681312|PMID:26759166|PMID:26845104|PMID:26893459|PMID:27064202|PMID:27146957|PMID:27151223|PMID:27153395|PMID:27227907|PMID:27443514|PMID:27498913|PMID:27582386|PMID:27616075|PMID:27621404|PMID:27682646|PMID:27878467|PMID:27880784|PMID:27904775|PMID:27925203|PMID:27930734|PMID:27978560|PMID:27995193|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195815|PMID:28202063|PMID:28301459|PMID:28492532|PMID:28522829|PMID:28608266|PMID:28640387|PMID:28688938|PMID:28767289|PMID:28873162|PMID:28944238|PMID:28961279|PMID:28993866|PMID:29025585|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29348693|PMID:29470806|PMID:29492670|PMID:29522266|PMID:29577179|PMID:29589180|PMID:29641532|PMID:29752822|PMID:29769627|PMID:29798843|PMID:30089731|PMID:30239046|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30311375|PMID:30374176|PMID:30426508|PMID:30661051|PMID:30716324|PMID:30730459|PMID:30745422|PMID:30895400|PMID:30935944|PMID:31054147|PMID:31077828|PMID:31159747|PMID:31246251|PMID:31296550|PMID:31465090|PMID:31514334|PMID:31589614|PMID:31638429|PMID:31642931|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31986421|PMID:32260281|PMID:32269045|PMID:32283892|PMID:32295625|PMID:32318955|PMID:32362280|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32842532|PMID:32885271|PMID:32980694|PMID:33193653|PMID:33268956|PMID:33309985|PMID:33322525|PMID:33365374|PMID:33471991|PMID:33619332|PMID:33929593|PMID:33980423|PMID:34130653|PMID:34250417|PMID:34359559|PMID:34471991|PMID:34643667|PMID:34949788|PMID:35089076|PMID:35327954|PMID:35418818|PMID:35534704|PMID:36243179|PMID:36436516|PMID:36605468|PMID:36988593|PMID:8075649|PMID:9268661|PMID:9536098|PMID:9537325|PMID:9744472|PMID:9751616 8882745 Cdh1 cadherin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:15863205|REF_RGD_ID:11252161 8882745 Cdh1 cadherin 1 gene DOID:9256 colorectal cancer ISO RGD:737413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8882745 Cdh1 cadherin 1 gene DOID:9296 cleft lip ISO RGD:737413 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:25741868|PMID:26123647|PMID:28492532|PMID:29348693|PMID:29805042|PMID:30311375|PMID:36436516 8882745 Cdh1 cadherin 1 gene DOID:9296 cleft lip susceptibility ISO RGD:737413 D RGD:9068941 20200609 RGD DNA:splice-site mutation: :531+2T>A (human) PMID:15831593|REF_RGD_ID:1599548 8882745 Cdh1 cadherin 1 gene DOID:9351 diabetes mellitus ISO RGD:737413 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 8882765 Drd1 dopamine receptor D1 gene DOID:0060001 withdrawal disorder ISO RGD:2518 D RGD:9068941 20200609 RGD protein:increased expression:nucleus accumbens (rat) PMID:20435100|REF_RGD_ID:7248622 8882765 Drd1 dopamine receptor D1 gene DOID:0081292 traumatic brain injury treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:24047867|REF_RGD_ID:13506948 8882765 Drd1 dopamine receptor D1 gene DOID:10652 Alzheimer's disease ISO RGD:70828 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 8882765 Drd1 dopamine receptor D1 gene DOID:1074 kidney failure ISO RGD:70828 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-94G>A (human) PMID:19675531|REF_RGD_ID:7248447 8882765 Drd1 dopamine receptor D1 gene DOID:10763 hypertension ISO RGD:10485 D RGD:9068941 20200609 RGD PMID:8636408|REF_RGD_ID:1300303 8882765 Drd1 dopamine receptor D1 gene DOID:10763 hypertension ISO RGD:70828 D RGD:9068941 20200609 RGD PMID:10948075|REF_RGD_ID:1580869 8882765 Drd1 dopamine receptor D1 gene DOID:12849 autistic disorder ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18205172 8882765 Drd1 dopamine receptor D1 gene DOID:12858 Huntington's disease ISO RGD:10485 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (mouse) PMID:16905556|REF_RGD_ID:7248682 8882765 Drd1 dopamine receptor D1 gene DOID:12858 Huntington's disease ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:18815258|REF_RGD_ID:2302117 8882765 Drd1 dopamine receptor D1 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 8882765 Drd1 dopamine receptor D1 gene DOID:14330 Parkinson's disease ISO RGD:2518 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (rat) PMID:16365282|REF_RGD_ID:7248455 8882765 Drd1 dopamine receptor D1 gene DOID:14330 Parkinson's disease ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8558425 8882765 Drd1 dopamine receptor D1 gene DOID:14330 Parkinson's disease treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:23041629|REF_RGD_ID:7248595 8882765 Drd1 dopamine receptor D1 gene DOID:1596 depressive disorder ISO RGD:2518 D RGD:9068941 20200609 RGD mRNA:increased expression:caudate putamen (rat) PMID:17558292|REF_RGD_ID:2311588 8882765 Drd1 dopamine receptor D1 gene DOID:3227 tracheal stenosis ISO RGD:2518 D RGD:9068941 20200609 RGD mRNA:decreased expression:medial dorsal nucleus of thalamus (rat) PMID:21527662|REF_RGD_ID:7248613 8882765 Drd1 dopamine receptor D1 gene DOID:3312 bipolar disorder ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19153942 8882765 Drd1 dopamine receptor D1 gene DOID:4195 hyperglycemia ISO RGD:2518 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:decreased expression:renal cortex (rat) PMID:20339101|REF_RGD_ID:7248446 8882765 Drd1 dopamine receptor D1 gene DOID:480 movement disease ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6858777 8882765 Drd1 dopamine receptor D1 gene DOID:5199 ureteral obstruction ISO RGD:10485 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:14612384|REF_RGD_ID:7248457 8882765 Drd1 dopamine receptor D1 gene DOID:5199 ureteral obstruction ISO RGD:2518 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:14612384|REF_RGD_ID:7248457 8882765 Drd1 dopamine receptor D1 gene DOID:5419 schizophrenia ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 8882765 Drd1 dopamine receptor D1 gene DOID:630 genetic disease ISO RGD:70828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882765 Drd1 dopamine receptor D1 gene DOID:670 amphetamine abuse ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18363855|PMID:19444617 8882765 Drd1 dopamine receptor D1 gene DOID:783 end stage renal disease treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:18402547|REF_RGD_ID:7248448 8882765 Drd1 dopamine receptor D1 gene DOID:9000972 Fever ISO RGD:2518 D RGD:9068941 20200609 RGD mRNA:increased expression:brain meninges, brain vasculature (rat) PMID:19582783|REF_RGD_ID:2314489 8882765 Drd1 dopamine receptor D1 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:2518 D RGD:9068941 20240222 RGD mRNA:decreased expression:nucleus accumbens (rat) PMID:23579081|REF_RGD_ID:401976414 8882765 Drd1 dopamine receptor D1 gene DOID:9001542 Albuminuria ISO RGD:70828 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) PMID:17353515|REF_RGD_ID:7248452 8882765 Drd1 dopamine receptor D1 gene DOID:9002362 Hyperkinesis ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24418703 8882765 Drd1 dopamine receptor D1 gene DOID:9002457 Experimental Arthritis ISO RGD:2518 D RGD:9068941 20200609 RGD mRNA:increased expression:corpus striatum (rat) PMID:23762129|REF_RGD_ID:7248592 8882765 Drd1 dopamine receptor D1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:23762129|REF_RGD_ID:7248592 8882765 Drd1 dopamine receptor D1 gene DOID:9003805 Catalepsy ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1365866|PMID:3283778|PMID:7845605 8882765 Drd1 dopamine receptor D1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15295029|PMID:16014726|PMID:16541082|PMID:20456009 8882765 Drd1 dopamine receptor D1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2518 D RGD:9068941 20200609 RGD protein:decreased activity:striatum (rat) PMID:1386820|REF_RGD_ID:2311600 8882765 Drd1 dopamine receptor D1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:20513244|REF_RGD_ID:7248621 8882765 Drd1 dopamine receptor D1 gene DOID:9005968 Neuralgia ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:22171983|REF_RGD_ID:6907447 8882765 Drd1 dopamine receptor D1 gene DOID:9006024 Hypotension ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12946566|PMID:1724532 8882765 Drd1 dopamine receptor D1 gene DOID:9007692 Insulin Resistance ISO RGD:2518 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased serine phosphorylation:renal proximal tubule PMID:15798088|REF_RGD_ID:2302119 8882765 Drd1 dopamine receptor D1 gene DOID:9007980 Sleep Deprivation ISO RGD:2518 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:25433096|REF_RGD_ID:13506946 8882765 Drd1 dopamine receptor D1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:70828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10858612|PMID:16982285|PMID:19520364|PMID:7845605 8882765 Drd1 dopamine receptor D1 gene DOID:9008953 Binge-Eating Disorder ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:28821448|REF_RGD_ID:13506951 8882765 Drd1 dopamine receptor D1 gene DOID:9970 obesity ISO RGD:2518 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:renal proximal tubule, membrane (rat) PMID:15983225|REF_RGD_ID:7248449 8882765 Drd1 dopamine receptor D1 gene DOID:9970 obesity treatment ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:17191082|REF_RGD_ID:7248552 8882765 Drd1 dopamine receptor D1 gene DOID:9976 heroin dependence ISO RGD:2518 D RGD:9068941 20200609 RGD PMID:28598964|REF_RGD_ID:13506959 8882771 Naa50 N-alpha-acetyltransferase 50, NatE catalytic subunit gene DOID:630 genetic disease ISO RGD:1322131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882801 Slc6a5 solute carrier family 6 member 5 gene DOID:0060695 hyperekplexia ISO RGD:732915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperekplexia PMID:16884688|PMID:24033266|PMID:25741868|PMID:28492532 8882801 Slc6a5 solute carrier family 6 member 5 gene DOID:0060698 hyperekplexia 3 ISO RGD:732915 D RGD:7240710 20180130 OMIM 8882801 Slc6a5 solute carrier family 6 member 5 gene DOID:0060698 hyperekplexia 3 ISO RGD:732915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperekplexia 3 PMID:14622583|PMID:16199547|PMID:16751771|PMID:16884688|PMID:17576681|PMID:18707791|PMID:20301437|PMID:21515498|PMID:22114948|PMID:22700964|PMID:22753417|PMID:24033266|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29859229|PMID:31370103|PMID:31604777|PMID:32714574|PMID:33310157|PMID:33794243|PMID:9536098 8882801 Slc6a5 solute carrier family 6 member 5 gene DOID:1059 intellectual disability ISO RGD:732915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8882801 Slc6a5 solute carrier family 6 member 5 gene DOID:13366 Stiff-Person syndrome ISO RGD:732915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25480793 8882801 Slc6a5 solute carrier family 6 member 5 gene DOID:630 genetic disease ISO RGD:732915 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22700964|PMID:25741868|PMID:28492532|PMID:33794243 8882801 Slc6a5 solute carrier family 6 member 5 gene DOID:9004992 Apnea ISO RGD:732915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25480793 8882801 Slc6a5 solute carrier family 6 member 5 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:12158665 D RGD:9068941 20211105 OMIA Hyperekplexia (Startle disease) PMID:21420493|PMID:30847549|PMID:33769611|PMID:6524730 8882801 Slc6a5 solute carrier family 6 member 5 gene DOID:936 brain disease ISO RGD:732915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25480793 8882824 Prpf39 pre-mRNA processing factor 39 gene DOID:13636 Fanconi anemia ISO RGD:1318626 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 8882824 Prpf39 pre-mRNA processing factor 39 gene DOID:630 genetic disease ISO RGD:1318626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882824 Prpf39 pre-mRNA processing factor 39 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318626 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8882860 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:0111066 congenital bile acid synthesis defect 5 ISO RGD:736620 D RGD:7240710 20180130 OMIM 8882860 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:0111066 congenital bile acid synthesis defect 5 ISO RGD:736620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5 PMID:25168382|PMID:25741868|PMID:28492532 8882860 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:630 genetic disease ISO RGD:736620 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8882860 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8882860 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:905 Zellweger syndrome ISO RGD:736620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1301993 8882860 Abcd3 ATP binding cassette subfamily D member 3 gene DOID:905 Zellweger syndrome susceptibility ISO RGD:736620 D RGD:9068941 20200609 RGD PMID:1301993|REF_RGD_ID:1598658 8882892 Zbtb34 zinc finger and BTB domain containing 34 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8882892 Zbtb34 zinc finger and BTB domain containing 34 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1353753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8882892 Zbtb34 zinc finger and BTB domain containing 34 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8882892 Zbtb34 zinc finger and BTB domain containing 34 gene DOID:630 genetic disease ISO RGD:1353753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882910 LOC102009553 chromosome unknown open reading frame, human C16orf91 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8882910 LOC102009553 chromosome unknown open reading frame, human C16orf91 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605551 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8882910 LOC102009553 chromosome unknown open reading frame, human C16orf91 gene DOID:1826 epilepsy ISO RGD:1605551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8882910 LOC102009553 chromosome unknown open reading frame, human C16orf91 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8882916 Clec12b C-type lectin domain family 12 member B gene DOID:0080600 COVID-19 ISO RGD:1605796 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8882916 Clec12b C-type lectin domain family 12 member B gene DOID:630 genetic disease ISO RGD:1605796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882929 Bbx BBX high mobility group box domain containing gene DOID:630 genetic disease ISO RGD:1320282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882966 Elovl5 ELOVL fatty acid elongase 5 gene DOID:0050985 spinocerebellar ataxia type 38 ISO RGD:1353049 D RGD:7240710 20180130 OMIM 8882966 Elovl5 ELOVL fatty acid elongase 5 gene DOID:0050985 spinocerebellar ataxia type 38 ISO RGD:1353049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 38 PMID:25065913|PMID:25741868|PMID:28492532|PMID:31294938 8882966 Elovl5 ELOVL fatty acid elongase 5 gene DOID:1936 atherosclerosis treatment ISO RGD:1332308 D RGD:9068941 20230930 RGD PMID:29593532|REF_RGD_ID:401827839 8882966 Elovl5 ELOVL fatty acid elongase 5 gene DOID:2661 myoepithelioma ISO RGD:1353049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8882966 Elovl5 ELOVL fatty acid elongase 5 gene DOID:630 genetic disease ISO RGD:1353049 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8882966 Elovl5 ELOVL fatty acid elongase 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8882966 Elovl5 ELOVL fatty acid elongase 5 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8882978 Sec11a SEC11 homolog A, signal peptidase complex subunit gene DOID:0080600 COVID-19 ISO RGD:1344783 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8882978 Sec11a SEC11 homolog A, signal peptidase complex subunit gene DOID:2717 Bloom syndrome ISO RGD:1344783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8882978 Sec11a SEC11 homolog A, signal peptidase complex subunit gene DOID:630 genetic disease ISO RGD:1344783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882978 Sec11a SEC11 homolog A, signal peptidase complex subunit gene DOID:9256 colorectal cancer ISO RGD:1344783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8882996 P2ry1 purinergic receptor P2Y1 gene DOID:0060903 thrombosis ISO RGD:736104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17334511 8882996 P2ry1 purinergic receptor P2Y1 gene DOID:1875 impotence ISO RGD:3242 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19303093|REF_RGD_ID:2315809 8882996 P2ry1 purinergic receptor P2Y1 gene DOID:630 genetic disease ISO RGD:736104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8882996 P2ry1 purinergic receptor P2Y1 gene DOID:9000998 Brain Injuries ISO RGD:3242 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:19115395|REF_RGD_ID:2315811 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:0050758 metabolic acidosis ISO RGD:3710 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex, renal medulla (rat) PMID:19439519|REF_RGD_ID:7242944 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:737027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:0110919 hereditary spherocytosis type 4 ISO RGD:737027 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4 PMID:10403343|PMID:10580570|PMID:10745622|PMID:10766130|PMID:10926824|PMID:10942416|PMID:11155072|PMID:11208088|PMID:11380459|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:1419785|PMID:14618420|PMID:1520883|PMID:16107207|PMID:16227998|PMID:16420521|PMID:1678289|PMID:1696010|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19565014|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:21039340|PMID:2146504|PMID:2196932|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:23842529|PMID:24033266|PMID:24652967|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:27058983|PMID:27292444|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29572776|PMID:29627839|PMID:29725771|PMID:30192042|PMID:30230413|PMID:31122244|PMID:31126250|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:32266426|PMID:32641076|PMID:32926342|PMID:33532864|PMID:34093240|PMID:34746046|PMID:35738466|PMID:35845192|PMID:36203343|PMID:36231035|PMID:37353797|PMID:6338046|PMID:7530501|PMID:7689982|PMID:7812009|PMID:7919393|PMID:7949112|PMID:8011524|PMID:8206915|PMID:8282779|PMID:8343110|PMID:8434259|PMID:8471774|PMID:8547122|PMID:8567957|PMID:8608262|PMID:8640229|PMID:8704215|PMID:893429|PMID:8943874|PMID:9012689|PMID:9207478|PMID:9233560|PMID:9312167|PMID:9565662|PMID:9600966|PMID:9734643|PMID:9854053|PMID:9973643 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:11758 iron deficiency anemia ISO RGD:3710 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte, membrane (rat) PMID:1317772|REF_RGD_ID:10450513 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:12365 malaria ISO RGD:737027 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malaria, cerebral, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:34746046|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:8943874|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9854053 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:12971 hereditary spherocytosis ISO RGD:737027 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant PMID:25741868|PMID:36231035 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:1386 abetalipoproteinemia ISO RGD:737027 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acanthocytosis PMID:1696010|PMID:2527366|PMID:28492532|PMID:8343110 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:14219 renal tubular acidosis ISO RGD:737027 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis PMID:10403343|PMID:10926824|PMID:11934690|PMID:12750988|PMID:1378323|PMID:14618420|PMID:14734552|PMID:16107207|PMID:16420521|PMID:1722314|PMID:1737855|PMID:18524859|PMID:19229254|PMID:19289107|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:24652967|PMID:25741868|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:28638614|PMID:29627839|PMID:30230413|PMID:31672324|PMID:31959358|PMID:32154456|PMID:32632909|PMID:33532864|PMID:34159584|PMID:34746046|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8210309|PMID:8434259|PMID:9312167|PMID:9600966 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:1588 thrombocytopenia ISO RGD:11309 D RGD:9068941 20200609 RGD mRNA:decreased expression:erythrocyte (mouse) PMID:22279059|REF_RGD_ID:10450520 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:2373 hereditary elliptocytosis ISO RGD:737027 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:2146504|PMID:22126643|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:2373 hereditary elliptocytosis ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Elliptocytosis | ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:9207478|PMID:9312167|PMID:9854053 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:2373 hereditary elliptocytosis ISO RGD:737027 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Elliptocytosis | ClinVar Annotator: match by term: Stomatocytic elliptocytosis, hereditary PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:34746046|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:8943874|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9854053 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:2862 glucosephosphate dehydrogenase deficiency ISO RGD:737027 D RGD:9068941 20200609 RGD protein:increased phosphorylation:erythrocyte (human) PMID:21246053|REF_RGD_ID:10450516 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:583 hemolytic anemia ISO RGD:737027 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:11155072|PMID:1419785|PMID:1520883|PMID:1678289|PMID:1696010|PMID:19229254|PMID:21039340|PMID:2146504|PMID:2196932|PMID:23255290|PMID:24033266|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:28492532|PMID:29725771|PMID:32926342|PMID:35738466|PMID:35845192|PMID:36231035|PMID:37353797|PMID:7812009|PMID:8206915|PMID:8343110|PMID:8471774|PMID:8608262|PMID:8704215|PMID:893429 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:589 congenital hemolytic anemia ISO RGD:11309 D RGD:9068941 20200609 RGD PMID:8841202|REF_RGD_ID:10450509 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:589 congenital hemolytic anemia ISO RGD:737027 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:16227998|REF_RGD_ID:10450505 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:630 genetic disease ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11934690|PMID:16420521|PMID:25741868|PMID:28492532|PMID:29627839|PMID:30230413|PMID:31959358|PMID:32154456|PMID:35738466|PMID:4116984|PMID:8210309|PMID:9312167|PMID:9600966 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:718 autoimmune hemolytic anemia ISO RGD:11309 D RGD:9068941 20200609 RGD PMID:8325343|REF_RGD_ID:10450476 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:74 hematopoietic system disease ISO RGD:737027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8343110 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9001003 Distal Renal Tubular Acidosis, with Normal Red Cell Morphology ISO RGD:737027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, distal, with normal red cell morphology PMID:15211439 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9003197 Vaso-occlusive Crisis ISO RGD:737027 D RGD:9068941 20200609 RGD PMID:23643401|REF_RGD_ID:11100023 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9003936 Cardiomegaly ISO RGD:11309 D RGD:9068941 20200609 RGD associated with Anemia, Hemolytic PMID:17056673|REF_RGD_ID:10450496 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9004970 Distal Renal Tubular Acidosis 1 ISO RGD:737027 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis | ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant PMID:10403343|PMID:10926824|PMID:10942416|PMID:11155072|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:1419785|PMID:14618420|PMID:1520883|PMID:16107207|PMID:16420521|PMID:1678289|PMID:1696010|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:21039340|PMID:2146504|PMID:2196932|PMID:22126643|PMID:23255290|PMID:24033266|PMID:24652967|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:30256676|PMID:31147440|PMID:31672324|PMID:31959358|PMID:33532864|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7812009|PMID:7919393|PMID:7949112|PMID:8206915|PMID:8210309|PMID:8343110|PMID:8434259|PMID:8471774|PMID:8608262|PMID:8704215|PMID:893429|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9734643|PMID:9854053 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9004970 Distal Renal Tubular Acidosis 1 ISO RGD:737027 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis | ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant | ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I PMID:10403343|PMID:10926824|PMID:10942416|PMID:11155072|PMID:11934690|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:1419785|PMID:14618420|PMID:1520883|PMID:16107207|PMID:16420521|PMID:1678289|PMID:1696010|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:21039340|PMID:21209359|PMID:2146504|PMID:2196932|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:23842529|PMID:24033266|PMID:24652967|PMID:25111073|PMID:2527366|PMID:25296721|PMID:25741868|PMID:26571219|PMID:26879370|PMID:27058983|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:29725771|PMID:30192042|PMID:30230413|PMID:30256676|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:32154456|PMID:32926342|PMID:33532864|PMID:34746046|PMID:35738466|PMID:35845192|PMID:36231035|PMID:37353797|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7812009|PMID:7919393|PMID:7949112|PMID:8206915|PMID:8210309|PMID:8343110|PMID:8434259|PMID:8471774|PMID:8608262|PMID:8704215|PMID:893429|PMID:8943874|PMID:9042344|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9734643|PMID:9854053 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9005267 Potassium Deficiency ISO RGD:3710 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal cortex, renal medulla (rat) PMID:17804457|REF_RGD_ID:8554499 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9005808 Distal Renal Tubular Acidosis 3, Autosomal Recessive ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing PMID:25741868|PMID:28492532|PMID:35738466 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9006575 Vitamin E Deficiency ISO RGD:3710 D RGD:9068941 20200609 RGD protein:increased degradation:erythrocyte, membrane (rat) PMID:3458208|REF_RGD_ID:10450477 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9007331 Alkalosis ISO RGD:3710 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney: PMID:10600930|REF_RGD_ID:13208945 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:737027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:10403343|PMID:10926824|PMID:11934690|PMID:1378323|PMID:14618420|PMID:16107207|PMID:16420521|PMID:1722314|PMID:1737855|PMID:19229254|PMID:19289107|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:24652967|PMID:25741868|PMID:28188436|PMID:28492532|PMID:29627839|PMID:30230413|PMID:31672324|PMID:31959358|PMID:32154456|PMID:35738466|PMID:4116984|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8210309|PMID:8434259|PMID:9312167|PMID:9600966 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9007818 Distal Renal Tubular Acidosis 4 with Hemolytic Anemia ISO RGD:737027 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:15211439|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:34746046|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:8943874|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9854053 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:737027 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cryohydrocytosis | ClinVar Annotator: match by term: Stomatocytosis, cold-sensitive PMID:10050708|PMID:10403343|PMID:10554820|PMID:10926824|PMID:10942416|PMID:11442486|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:15142123|PMID:16107207|PMID:16227998|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:21039340|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:33532864|PMID:34746046|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7831176|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8471774|PMID:8704215|PMID:8943874|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9854053 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9008765 Malarial Anemia severity ISO RGD:737027 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-5699T>C (human) PMID:16960783|REF_RGD_ID:10450507 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9008912 Ovalocytosis, Malaysian-Melanesian-Filipino Type ISO RGD:737027 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Elliptocytosis 4 | ClinVar Annotator: match by term: Southeast Asian ovalocytosis PMID:10403343|PMID:10926824|PMID:10942416|PMID:12087557|PMID:12750988|PMID:12938018|PMID:1378323|PMID:14618420|PMID:14734552|PMID:16107207|PMID:16420521|PMID:17215882|PMID:1722314|PMID:1737855|PMID:18266205|PMID:18524859|PMID:19229254|PMID:19289107|PMID:19625994|PMID:20068363|PMID:20151848|PMID:20421175|PMID:20799361|PMID:2146504|PMID:22126643|PMID:22518001|PMID:22609520|PMID:23255290|PMID:24652967|PMID:25741868|PMID:28045035|PMID:28188436|PMID:28233610|PMID:28492532|PMID:28542241|PMID:28638614|PMID:29627839|PMID:30192042|PMID:30230413|PMID:31147440|PMID:31672324|PMID:31959358|PMID:32071839|PMID:32632909|PMID:33532864|PMID:34159584|PMID:34746046|PMID:35738466|PMID:6338046|PMID:7689982|PMID:7919393|PMID:7949112|PMID:8434259|PMID:8704215|PMID:8943874|PMID:9207478|PMID:9312167|PMID:9600966|PMID:9854053 8883002 Slc4a1 solute carrier family 4 member 1 (Diego blood group) gene DOID:9009133 ACANTHOCYTOSIS ISO RGD:737027 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acanthocytosis due to band 3 ht PMID:1696010|PMID:2527366|PMID:28492532|PMID:8343110 8883029 Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8883029 Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:12849 autistic disorder ISO RGD:1606557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8883029 Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1606557 D RGD:9068941 20221006 RGD mRNA:increased expression:lung (human) PMID:35150321|REF_RGD_ID:155260359 8883029 Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1606557 D RGD:9068941 20221006 RGD mRNA:increased expression:lung (human) PMID:35150321|REF_RGD_ID:155260359 8883029 Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:630 genetic disease ISO RGD:1606557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883029 Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase gene DOID:9256 colorectal cancer exacerbates ISO RGD:1606557 D RGD:9068941 20221020 RGD mRNA, protein:increased expression:colorectum (human) PMID:31289493|REF_RGD_ID:155598681 8883035 Uhmk1 U2AF homology motif kinase 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8883035 Uhmk1 U2AF homology motif kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8883035 Uhmk1 U2AF homology motif kinase 1 gene DOID:630 genetic disease ISO RGD:1344907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883035 Uhmk1 U2AF homology motif kinase 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 8883035 Uhmk1 U2AF homology motif kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8883071 Dennd6a DENN domain containing 6A gene DOID:13938 amenorrhea ISO RGD:1606682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8883071 Dennd6a DENN domain containing 6A gene DOID:630 genetic disease ISO RGD:1606682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883071 Dennd6a DENN domain containing 6A gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1606682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8883171 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:10003 sensorineural hearing loss ISO RGD:2170 D RGD:9068941 20200609 RGD protein:decreased expression:cochlea: PMID:23827367|REF_RGD_ID:7349365 8883171 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:10825 essential hypertension ISO RGD:735774 D RGD:7240710 20180130 OMIM 8883171 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:1540 parathyroid carcinoma ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8883171 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:303 substance-related disorder ISO RGD:735774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8883171 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:630 genetic disease ISO RGD:735774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883171 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 8883171 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8883171 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9008086 Developmental Disabilities ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8883171 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8883171 Atp1b1 ATPase Na+/K+ transporting subunit beta 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8883181 Ric3 RIC3 acetylcholine receptor chaperone gene DOID:630 genetic disease ISO RGD:1606245 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8883181 Ric3 RIC3 acetylcholine receptor chaperone gene DOID:8501 fundus dystrophy ISO RGD:1606245 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:36498982|PMID:9536098 8883181 Ric3 RIC3 acetylcholine receptor chaperone gene DOID:9009014 Retinal Dystrophy and Obesity ISO RGD:1606245 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and obesity | ClinVar Annotator: match by term: TUB-related condition PMID:16199547|PMID:17576681|PMID:24375934|PMID:25741868|PMID:28492532|PMID:31785789|PMID:36498982|PMID:9536098 8883199 Rps10 ribosomal protein S10 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:733640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8883199 Rps10 ribosomal protein S10 gene DOID:0111884 Diamond-Blackfan anemia 9 ISO RGD:733640 D RGD:7240710 20180130 OMIM 8883199 Rps10 ribosomal protein S10 gene DOID:0111884 Diamond-Blackfan anemia 9 ISO RGD:733640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 PMID:20116044|PMID:23718193|PMID:25741868|PMID:28492532 8883199 Rps10 ribosomal protein S10 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733640 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:20116044|PMID:20159986|PMID:23718193|PMID:25741868|PMID:28065601|PMID:28132843|PMID:28492532|PMID:9536098 8883199 Rps10 ribosomal protein S10 gene DOID:630 genetic disease ISO RGD:733640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20116044|PMID:25741868|PMID:28492532 8883199 Rps10 ribosomal protein S10 gene DOID:9007874 Liver Failure ISO RGD:621024 D RGD:9068941 20200609 RGD PMID:501300|REF_RGD_ID:11040911 8883210 Nppc natriuretic peptide C gene DOID:0060476 Perlman syndrome ISO RGD:1351265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8883210 Nppc natriuretic peptide C gene DOID:0080006 bone development disease ISO RGD:1351265 D RGD:9068941 20230615 CTD CTD Direct Evidence: marker/mechanism PMID:17676597 8883210 Nppc natriuretic peptide C gene DOID:0110991 Joubert syndrome 22 ISO RGD:1351265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8883210 Nppc natriuretic peptide C gene DOID:10763 hypertension ISO RGD:1351265 D RGD:9068941 20200609 RGD PMID:12452325|REF_RGD_ID:1580150 8883210 Nppc natriuretic peptide C gene DOID:10763 hypertension severity ISO RGD:1351265 D RGD:9068941 20200609 RGD associated with Pregnancy Complications;protein:increased expression:plasma PMID:11775888|REF_RGD_ID:1642292 8883210 Nppc natriuretic peptide C gene DOID:114 heart disease ISO RGD:620850 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart PMID:10828832|REF_RGD_ID:1642294 8883210 Nppc natriuretic peptide C gene DOID:1222 cartilage disease ISO RGD:1351265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676597 8883210 Nppc natriuretic peptide C gene DOID:14115 toxic shock syndrome ISO RGD:1351265 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8117275|REF_RGD_ID:1642297 8883210 Nppc natriuretic peptide C gene DOID:1596 depressive disorder ISO RGD:1351265 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8883210 Nppc natriuretic peptide C gene DOID:1712 aortic valve stenosis ISO RGD:620850 D RGD:9068941 20200609 RGD mRNA:decreased expression:aortic valve PMID:17709640|REF_RGD_ID:1642267 8883210 Nppc natriuretic peptide C gene DOID:2256 osteochondrodysplasia ISO RGD:1351265 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 8883210 Nppc natriuretic peptide C gene DOID:2349 arteriosclerosis ISO RGD:1351265 D RGD:9068941 20200609 RGD PMID:8989116|REF_RGD_ID:1642296 8883210 Nppc natriuretic peptide C gene DOID:4480 achondroplasia ISO RGD:1551929 D RGD:9068941 20220825 MouseDO OMIM:100800 8883210 Nppc natriuretic peptide C gene DOID:5199 ureteral obstruction ISO RGD:1351265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 8883210 Nppc natriuretic peptide C gene DOID:630 genetic disease ISO RGD:1351265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8883210 Nppc natriuretic peptide C gene DOID:783 end stage renal disease ISO RGD:1351265 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8117275|REF_RGD_ID:1642297 8883210 Nppc natriuretic peptide C gene DOID:783 end stage renal disease ISO RGD:1351265 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:8743538|REF_RGD_ID:1580770 8883210 Nppc natriuretic peptide C gene DOID:9001981 Weight Loss ISO RGD:1351265 D RGD:9068941 20231207 CTD CTD Direct Evidence: therapeutic PMID:37352108 8883210 Nppc natriuretic peptide C gene DOID:9002362 Hyperkinesis ISO RGD:1351265 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11860464 8883210 Nppc natriuretic peptide C gene DOID:9002669 Hypoxia ISO RGD:620850 D RGD:9068941 20200609 RGD protein:increased expression:lung, plasma PMID:16677483|REF_RGD_ID:1642268 8883210 Nppc natriuretic peptide C gene DOID:9004464 Skin Neoplasms ISO RGD:1351265 D RGD:9068941 20231207 CTD CTD Direct Evidence: therapeutic PMID:37352108 8883210 Nppc natriuretic peptide C gene DOID:9006257 Growth Disorders ISO RGD:1351265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676597 8883210 Nppc natriuretic peptide C gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620850 D RGD:9068941 20200609 RGD PMID:15337698|REF_RGD_ID:1580149 8883217 Sh3rf2 SH3 domain containing ring finger 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1318169 D RGD:9068941 20220825 MouseDO 8883217 Sh3rf2 SH3 domain containing ring finger 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8883217 Sh3rf2 SH3 domain containing ring finger 2 gene DOID:630 genetic disease ISO RGD:1318168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883217 Sh3rf2 SH3 domain containing ring finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8883217 Sh3rf2 SH3 domain containing ring finger 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:1321026 D RGD:7240710 20240320 OMIM 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy ISO RGD:1321026 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: OPTIC NEUROPATHY, ANTERIOR ISCHEMIC, SUSCEPTIBILITY TO PMID:25741868|PMID:28748566|PMID:29232918 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0050941 spastic ataxia 2 ISO RGD:1321026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0060903 thrombosis ISO RGD:1321026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17334511 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0081250 CIC-rearranged sarcoma ISO RGD:1321026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CIC-DUX Sarcoma PMID:25741868|PMID:28492532 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1321026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111056 platelet-type bleeding disorder 3 ISO RGD:1321026 D RGD:7240710 20240320 OMIM 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111056 platelet-type bleeding disorder 3 ISO RGD:1321026 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Platelet-type von Willebrand disease | ClinVar Annotator: match by term: Pseudo von Willebrand disease PMID:2052556|PMID:25741868|PMID:28748566|PMID:29232918|PMID:31064749|PMID:34355501|PMID:34619770|PMID:8384898|PMID:8486780 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111059 Bernard-Soulier syndrome type A2 ISO RGD:1321026 D RGD:7240710 20240320 OMIM 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:0111059 Bernard-Soulier syndrome type A2 ISO RGD:1321026 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A2, autosomal dominant PMID:10089893|PMID:10235425|PMID:10996832|PMID:11054083|PMID:11222377|PMID:1694864|PMID:1730088|PMID:18065693|PMID:19067792|PMID:21933849|PMID:25370924|PMID:25741868|PMID:28492532|PMID:28748566|PMID:28983057|PMID:29082515|PMID:29232918|PMID:30349881|PMID:30908598|PMID:31064749|PMID:32757236|PMID:34355501|PMID:7579348|PMID:7690774|PMID:7855797|PMID:9326229|PMID:9326230 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:10763 hypertension ISO RGD:1321026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:11713 diabetic angiopathy ISO RGD:1321026 D RGD:9068941 20200609 RGD PMID:21411989|REF_RGD_ID:7242686 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:1184 nephrotic syndrome ISO RGD:1321026 D RGD:9068941 20200609 RGD protein: reduced expression: : PMID:12185480|REF_RGD_ID:7242688 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:1588 thrombocytopenia ISO RGD:1321026 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:29082515|PMID:31064749|PMID:34355501|PMID:8384898 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:1725 peritoneum cancer sexual_dimorphism ISO RGD:1321026 D RGD:9068941 20210625 RGD associated with stomach cancer;protein:altered expression:peritoneum (human) PMID:32724431|REF_RGD_ID:42722625 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2213 hemorrhagic disease ISO RGD:1321026 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:7240710 20240320 OMIM 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1321026 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome PMID:10089893|PMID:10996832|PMID:11054083|PMID:12038791|PMID:18065693|PMID:18492106|PMID:25370924|PMID:25741868|PMID:28492532|PMID:28748566|PMID:28983057|PMID:29232918|PMID:30349881|PMID:32757236|PMID:34355501|PMID:7579348|PMID:7855797|PMID:8950770|PMID:9233564|PMID:9326229|PMID:9326230|PMID:9639514 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2217 Bernard-Soulier syndrome treatment ISO RGD:1321026 D RGD:9068941 20200609 RGD PMID:22044935|REF_RGD_ID:10450833 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:2316 brain ischemia exacerbates ISO RGD:1321027 D RGD:9068941 20210312 RGD associated with Pneumococcal Infections PMID:24644058|REF_RGD_ID:42722626 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:5082 liver cirrhosis treatment ISO RGD:1321026 D RGD:9068941 20210312 RGD PMID:31851564|REF_RGD_ID:42722628 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:5844 myocardial infarction ISO RGD:1321026 D RGD:9068941 20200609 RGD PMID:15269835|REF_RGD_ID:1580432 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:630 genetic disease ISO RGD:1321026 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:784 chronic kidney disease exacerbates ISO RGD:1321026 D RGD:9068941 20210312 RGD PMID:11314805|REF_RGD_ID:42722629 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:8283 peritonitis exacerbates ISO RGD:1321027 D RGD:9068941 20210312 RGD PMID:20716766|REF_RGD_ID:42722627 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:874 bacterial pneumonia exacerbates ISO RGD:1321027 D RGD:9068941 20210312 RGD associated with Escherichia Coli Infections PMID:27845343|REF_RGD_ID:42722624 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1321027 D RGD:9068941 20200609 RGD PMID:16861348|REF_RGD_ID:10450841 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9000528 Coronary Disease ISO RGD:1321026 D RGD:9068941 20200609 RGD PMID:14592833|REF_RGD_ID:1580433 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321027 D RGD:9068941 20200609 RGD associated with Melanoma, Experimental PMID:19727118|REF_RGD_ID:10450866 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9001249 Bernard-Soulier Syndrome Type A1 ISO RGD:1321026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type A1 PMID:10235425|PMID:11222377|PMID:1694864|PMID:1901273|PMID:19067792|PMID:21933849|PMID:2308962|PMID:25741868|PMID:28492532|PMID:28983057|PMID:34355501|PMID:7690774|PMID:7855797|PMID:9233564|PMID:9639514 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9002406 Bernard-Soulier Syndrome, Autosomal Dominant ISO RGD:1321026 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.A156V (515C>T) (human) PMID:11222377|REF_RGD_ID:10450832 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9002406 Bernard-Soulier Syndrome, Autosomal Dominant ISO RGD:1321026 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.N41H (169A>C) (human) PMID:18815197|REF_RGD_ID:10450842 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9002522 Embolism susceptibility ISO RGD:1321026 D RGD:9068941 20210312 RGD associated with infective endocarditis;DNA:repeat:CDS:(human) PMID:23611001|REF_RGD_ID:42722623 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9003168 Diarrhea prodrome + Hemolytic-Uremic Syndrome ISO RGD:1321026 D RGD:9068941 20210312 RGD associated with Escherichia Coli Infections;DNA:SNP:exon: (rs121908064) (human) PMID:29216383|REF_RGD_ID:42722620 8883236 Gp1ba glycoprotein Ib platelet subunit alpha gene DOID:9004484 Sepsis exacerbates ISO RGD:1321027 D RGD:9068941 20210312 RGD associated with thrombocytopenia PMID:24150174|REF_RGD_ID:42722621 8883243 Cemip cell migration inducing hyaluronidase 1 gene DOID:0050726 tyrosinemia type I ISO RGD:1313176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 8883243 Cemip cell migration inducing hyaluronidase 1 gene DOID:2717 Bloom syndrome ISO RGD:1313176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8883243 Cemip cell migration inducing hyaluronidase 1 gene DOID:630 genetic disease ISO RGD:1313176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883243 Cemip cell migration inducing hyaluronidase 1 gene DOID:9256 colorectal cancer ISO RGD:1313176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8883307 Znf280b zinc finger protein 280B gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1348223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 8883307 Znf280b zinc finger protein 280B gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1348223 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex PMID:25741868 8883307 Znf280b zinc finger protein 280B gene DOID:11198 DiGeorge syndrome ISO RGD:1348223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8883307 Znf280b zinc finger protein 280B gene DOID:630 genetic disease ISO RGD:1348223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883317 Max MYC associated factor X gene DOID:0050771 pheochromocytoma ISO RGD:731306 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:28552549|PMID:34130653|PMID:7630640|PMID:9536098 8883317 Max MYC associated factor X gene DOID:0050771 pheochromocytoma susceptibility ISO RGD:731306 D RGD:7240710 20240313 OMIM 8883317 Max MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:7630640|PMID:9536098 8883317 Max MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:28552549|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 8883317 Max MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:28552549|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 8883317 Max MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:33606809|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 8883317 Max MYC associated factor X gene DOID:0050773 paraganglioma ISO RGD:731306 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:33606809|PMID:34130653|PMID:34439168|PMID:38141607|PMID:7630640|PMID:9115440|PMID:9536098 8883317 Max MYC associated factor X gene DOID:2154 nephroblastoma ISO RGD:731306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8883317 Max MYC associated factor X gene DOID:5409 lung small cell carcinoma ISO RGD:731306 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:lung PMID:24362264|REF_RGD_ID:13793386 8883317 Max MYC associated factor X gene DOID:630 genetic disease ISO RGD:731306 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 8883317 Max MYC associated factor X gene DOID:768 retinoblastoma ISO RGD:731306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:28492532 8883317 Max MYC associated factor X gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:731306 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:21685915|PMID:22452945|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:28492532|PMID:28552549|PMID:34130653 8883317 Max MYC associated factor X gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:731306 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:33606809|PMID:34130653|PMID:34439168|PMID:38141607|PMID:7630640|PMID:9115440|PMID:9536098 8883317 Max MYC associated factor X gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731306 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:28552549|PMID:29264463|PMID:30455982|PMID:30877234|PMID:33367756|PMID:34130653|PMID:34169220|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 8883317 Max MYC associated factor X gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731306 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:28552549|PMID:29264463|PMID:29909963|PMID:30455982|PMID:30877234|PMID:33367756|PMID:33606809|PMID:34130653|PMID:34169220|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098 8883317 Max MYC associated factor X gene DOID:9007131 Polydactyly-Macrocephaly Syndrome susceptibility ISO RGD:731306 D RGD:7240710 20240313 OMIM 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:732196 D RGD:9068941 20220825 RGD protein:decreased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:0060074 ductal carcinoma in situ ISO RGD:732196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:17254320|REF_RGD_ID:2293756 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:732196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:10534 stomach cancer ISO RGD:732196 D RGD:9068941 20220826 RGD DNA:SNP:5' utr (human) PMID:28169308|REF_RGD_ID:153344570 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:1059 intellectual disability ISO RGD:732196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:11832 visual epilepsy ISO RGD:2627 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:11488404|REF_RGD_ID:2293787 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:13533 osteopetrosis ISO RGD:10597 D RGD:9068941 20200609 RGD PMID:10655067|REF_RGD_ID:737712 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:234 colon adenocarcinoma ISO RGD:732196 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:2746 glycogen storage disease V ISO RGD:732196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:3744 cervical squamous cell carcinoma ISO RGD:732196 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:15514944|REF_RGD_ID:2293757 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2627 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:6000 congestive heart failure ISO RGD:2627 D RGD:9068941 20200609 RGD PMID:15623567|REF_RGD_ID:2293777 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:732196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732196 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:2627 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:15306117|REF_RGD_ID:1642465 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:9006947 Fibroadenoma ISO RGD:732196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:17254320|REF_RGD_ID:2293756 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8883330 Fosl1 FOS like 1, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:732196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:17254320|REF_RGD_ID:2293756 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:0050990 episodic ataxia type 2 ISO RGD:10073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:10073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:0111254 glutaric acidemia I ISO RGD:10073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:12466 secondary hyperparathyroidism ISO RGD:10073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21985997|PMID:22373954 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:3413 alpha-mannosidosis ISO RGD:10073 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:630 genetic disease ISO RGD:10073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13524805|PMID:21217752|PMID:21217755|PMID:2363422|PMID:25741868|PMID:26951490|PMID:27125509|PMID:27390188|PMID:28492532|PMID:28740483 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:2022 D RGD:9068941 20230720 RGD associated with hypertension, periodontal disease PMID:33364953|REF_RGD_ID:329956421 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9003845 Stress Fractures ISO RGD:2022 D RGD:9068941 20200609 RGD protein:increased expression:tibia (rat) PMID:19821772|REF_RGD_ID:2315909 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9003917 Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia ISO RGD:10073 D RGD:7240710 20180130 OMIM 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9003917 Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia ISO RGD:10073 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation PMID:12786759|PMID:13524805|PMID:16470600|PMID:17576681|PMID:18924170|PMID:21217752|PMID:21217755|PMID:2363422|PMID:24033266|PMID:25741868|PMID:26346816|PMID:26789720|PMID:26951490|PMID:27125509|PMID:27390188|PMID:27718324|PMID:28492532|PMID:28740483|PMID:31286717|PMID:32214327|PMID:9536098 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:2022 D RGD:9068941 20200609 RGD protein:increased expression:femur (rat) PMID:19736603|REF_RGD_ID:2315910 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2022 D RGD:9068941 20200609 RGD protein:increased activity:femoral bone (rat) PMID:19699734|REF_RGD_ID:2315882 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9007945 Spondyloenchondrodysplasia ISO RGD:10073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21217752|PMID:21217755 8883340 Acp5 acid phosphatase 5, tartrate resistant gene DOID:9970 obesity ISO RGD:10073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8883353 Slc52a2 solute carrier family 52 member 2 gene DOID:0050694 Brown-Vialetto-Van Laere syndrome ISO RGD:1349767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8883353 Slc52a2 solute carrier family 52 member 2 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1349767 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:24253200|PMID:25741868|PMID:27148561|PMID:28492532 8883353 Slc52a2 solute carrier family 52 member 2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1349767 D RGD:7240710 20180130 OMIM 8883353 Slc52a2 solute carrier family 52 member 2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1349767 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 | ClinVar Annotator: match by term: Riboflavin transporter deficiency type 2 PMID:10797435|PMID:16199547|PMID:17576681|PMID:20301336|PMID:20447487|PMID:21109228|PMID:22740598|PMID:22824638|PMID:22864630|PMID:23107375|PMID:23243084|PMID:23289980|PMID:24033266|PMID:24253200|PMID:24616084|PMID:25133958|PMID:25356970|PMID:25741868|PMID:25798182|PMID:25807286|PMID:26633542|PMID:26669662|PMID:27148561|PMID:27518768|PMID:28116953|PMID:28251916|PMID:28492532|PMID:28781516|PMID:28824526|PMID:29053833|PMID:29287867|PMID:29858556|PMID:29913018|PMID:29915382|PMID:29961509|PMID:30343981|PMID:30377535|PMID:31064337|PMID:31152317|PMID:32827528|PMID:33036493|PMID:33201363|PMID:33258288|PMID:34428344|PMID:34602496|PMID:9536098 8883353 Slc52a2 solute carrier family 52 member 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1349767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8883353 Slc52a2 solute carrier family 52 member 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1349767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8883353 Slc52a2 solute carrier family 52 member 2 gene DOID:4621 holoprosencephaly ISO RGD:1349767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8883353 Slc52a2 solute carrier family 52 member 2 gene DOID:630 genetic disease ISO RGD:1349767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10797435|PMID:22740598|PMID:22864630|PMID:23107375|PMID:24033266|PMID:24253200|PMID:24616084|PMID:25133958|PMID:25356970|PMID:25741868|PMID:25798182|PMID:25807286|PMID:26669662|PMID:27148561|PMID:27518768|PMID:28116953|PMID:28251916|PMID:28492532|PMID:28781516|PMID:29053833|PMID:29858556|PMID:29913018|PMID:29915382|PMID:29961509|PMID:30343981|PMID:30377535|PMID:31152317|PMID:33036493|PMID:33201363|PMID:33258288|PMID:34428344|PMID:34602496 8883377 Vim vimentin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8883377 Vim vimentin gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8883377 Vim vimentin gene DOID:0080600 COVID-19 ISO RGD:733128 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 8883377 Vim vimentin gene DOID:0110248 cataract 30 ISO RGD:733128 D RGD:7240710 20180130 OMIM 8883377 Vim vimentin gene DOID:0110248 cataract 30 ISO RGD:733128 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CATARACT 30, PULVERULENT | ClinVar Annotator: match by term: Cataract 30 PMID:19126778|PMID:25741868|PMID:26694549|PMID:28450710|PMID:28492532 8883377 Vim vimentin gene DOID:10652 Alzheimer's disease ISO RGD:733128 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19728994|REF_RGD_ID:6480519 8883377 Vim vimentin gene DOID:10652 Alzheimer's disease ISO RGD:733129 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19728994|REF_RGD_ID:6480519 8883377 Vim vimentin gene DOID:12140 Chagas disease ISO RGD:621646 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22199233|REF_RGD_ID:6480538 8883377 Vim vimentin gene DOID:12140 Chagas disease severity ISO RGD:733128 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22199233|REF_RGD_ID:6480538 8883377 Vim vimentin gene DOID:1289 neurodegenerative disease ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831193 8883377 Vim vimentin gene DOID:12894 Sjogren's syndrome ISO RGD:733128 D RGD:9068941 20200609 RGD PMID:6352937|REF_RGD_ID:6480477 8883377 Vim vimentin gene DOID:13241 Behcet's disease ISO RGD:733128 D RGD:9068941 20200609 RGD PMID:3780056|REF_RGD_ID:6480476 8883377 Vim vimentin gene DOID:1790 malignant mesothelioma ISO RGD:733128 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8883377 Vim vimentin gene DOID:1936 atherosclerosis ISO RGD:733128 D RGD:9068941 20200609 RGD associated with arthritis,rheumatoid PMID:21362765|REF_RGD_ID:6480618 8883377 Vim vimentin gene DOID:231 motor neuron disease ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831193 8883377 Vim vimentin gene DOID:2527 nephrosis ISO RGD:621646 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:podocyte PMID:16418842|REF_RGD_ID:6480447 8883377 Vim vimentin gene DOID:2527 nephrosis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16418842 8883377 Vim vimentin gene DOID:2945 severe acute respiratory syndrome ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26801988 8883377 Vim vimentin gene DOID:3393 coronary artery disease ISO RGD:733128 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:21938407|REF_RGD_ID:6480617 8883377 Vim vimentin gene DOID:3526 cerebral infarction ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:18802758|REF_RGD_ID:6480442 8883377 Vim vimentin gene DOID:4236 carcinosarcoma ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15132766 8883377 Vim vimentin gene DOID:5082 liver cirrhosis ISO RGD:733128 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:25226513|PMID:26396155|PMID:32659284 8883377 Vim vimentin gene DOID:5485 synovial sarcoma ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15043115 8883377 Vim vimentin gene DOID:557 kidney disease ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 8883377 Vim vimentin gene DOID:5679 retinal disease ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 8883377 Vim vimentin gene DOID:630 genetic disease ISO RGD:733128 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8883377 Vim vimentin gene DOID:6432 pulmonary hypertension ISO RGD:621646 D RGD:9068941 20200924 RGD protein:increased expression, increased phosphorylation:lung PMID:25593290|REF_RGD_ID:38500244 8883377 Vim vimentin gene DOID:7148 rheumatoid arthritis ISO RGD:733128 D RGD:9068941 20200609 RGD PMID:21792832|REF_RGD_ID:6480508 8883377 Vim vimentin gene DOID:799 varicose veins ISO RGD:733128 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:vein: PMID:26808710|REF_RGD_ID:11529441 8883377 Vim vimentin gene DOID:7998 hyperthyroidism ISO RGD:621646 D RGD:9068941 20200609 RGD protein:increased expression, hyperphosphorylation:testis PMID:17306450|REF_RGD_ID:6480446 8883377 Vim vimentin gene DOID:83 cataract ISO RGD:733128 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:26694549 8883377 Vim vimentin gene DOID:8398 osteoarthritis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16876394|PMID:18784066 8883377 Vim vimentin gene DOID:9000039 Spinal Cord Injuries ISO RGD:621646 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21250919|REF_RGD_ID:6480511 8883377 Vim vimentin gene DOID:9000039 Spinal Cord Injuries ISO RGD:733129 D RGD:9068941 20200609 RGD PMID:10225952|REF_RGD_ID:6480471 8883377 Vim vimentin gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:621646 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney cortex, kidney medulla (rat) PMID:32416216|REF_RGD_ID:401793731 8883377 Vim vimentin gene DOID:9000784 Fibrosis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 8883377 Vim vimentin gene DOID:9000965 Neoplasm Metastasis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 8883377 Vim vimentin gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:733128 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 8883377 Vim vimentin gene DOID:9000972 Fever ISO RGD:621646 D RGD:9068941 20200609 RGD protein:increased expression:glial cell PMID:12834255|REF_RGD_ID:1304397 8883377 Vim vimentin gene DOID:9000998 Brain Injuries ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:15527750|REF_RGD_ID:6480527 8883377 Vim vimentin gene DOID:9000998 Brain Injuries ISO RGD:733129 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19728994|REF_RGD_ID:6480519 8883377 Vim vimentin gene DOID:9001036 Penetrating Head Injuries ISO RGD:733129 D RGD:9068941 20200609 RGD PMID:10225952|REF_RGD_ID:6480471 8883377 Vim vimentin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621646 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 8883377 Vim vimentin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8883377 Vim vimentin gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:19199359|REF_RGD_ID:6480440 8883377 Vim vimentin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8883377 Vim vimentin gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733128 D RGD:9068941 20200924 RGD protein:increased phosphorylation:lung PMID:25593290|REF_RGD_ID:38500244 8883377 Vim vimentin gene DOID:9001834 Peritoneal Neoplasms ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8883377 Vim vimentin gene DOID:9002304 Prostatic Neoplasms ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973|PMID:24763052 8883377 Vim vimentin gene DOID:9002457 Experimental Arthritis ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:7516431|REF_RGD_ID:6480480 8883377 Vim vimentin gene DOID:9003919 Urination Disorders ISO RGD:621646 D RGD:9068941 20200609 RGD associated with spinal cord injuries PMID:21250919|REF_RGD_ID:6480511 8883377 Vim vimentin gene DOID:9004009 Reperfusion Injury ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 8883377 Vim vimentin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 8883377 Vim vimentin gene DOID:9004657 Weight Gain ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8883377 Vim vimentin gene DOID:9004771 Vascular Remodeling ISO RGD:621646 D RGD:9068941 20200924 RGD protein:increased phosphorylation:lung PMID:25593290|REF_RGD_ID:38500244 8883377 Vim vimentin gene DOID:9006008 Closed Head Injuries ISO RGD:621646 D RGD:9068941 20200609 RGD PMID:8833197|REF_RGD_ID:6480531 8883377 Vim vimentin gene DOID:9006205 Animal Disease Models ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831193 8883377 Vim vimentin gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:733128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 8883377 Vim vimentin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8883377 Vim vimentin gene DOID:9007402 Gliosis ISO RGD:621646 D RGD:9068941 20200609 RGD associated with alcohol-induced disorders, nervous system;protein:increased expression:astrocyte PMID:21958862|REF_RGD_ID:6480622 8883377 Vim vimentin gene DOID:9007402 Gliosis ISO RGD:621646 D RGD:9068941 20200609 RGD associated with head injuries, penetrating PMID:15684657|REF_RGD_ID:6480626 8883377 Vim vimentin gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 8883377 Vim vimentin gene DOID:9008939 Breast Neoplasms ISO RGD:733128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21501481|PMID:24014025|PMID:25330770|PMID:27811057 8883377 Vim vimentin gene DOID:9074 systemic lupus erythematosus ISO RGD:733128 D RGD:9068941 20200609 RGD PMID:3780056|REF_RGD_ID:6480476 8883377 Vim vimentin gene DOID:9351 diabetes mellitus ISO RGD:733128 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 8883391 Vit vitrin gene DOID:630 genetic disease ISO RGD:1353199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1319338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:0050741 alcohol dependence ISO RGD:1309155 D RGD:9068941 20240229 RGD associated with stress-related disorder;mRNA:affects expression:ventral tegmental area,cingulate cortex, nucleus accumbens( rat) PMID:27709495|REF_RGD_ID:401976487 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:0050741 alcohol dependence ISO RGD:1319339 D RGD:9068941 20240229 RGD PMID:27527158|REF_RGD_ID:401976484 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1319338 D RGD:9068941 20240229 RGD DNA:SNPs:intron,3'utr: (rs1360780, rs3800373) PMID:27527158|REF_RGD_ID:401976484 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1319338 D RGD:9068941 20240229 RGD associated with stress-related disorder;DNA:SNP:: (rs1360780) (human) PMID:27709495|REF_RGD_ID:401976487 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:0080600 COVID-19 ISO RGD:1319338 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:1470 major depressive disorder ISO RGD:1319338 D RGD:7240710 20180130 OMIM 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:1470 major depressive disorder ISO RGD:1319338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Major depressive disorder, increased recurrence of depressive episodes in, susceptibility to PMID:15565110 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:1470 major depressive disorder susceptibility ISO RGD:1319338 D RGD:9068941 20240229 RGD associated with Trauma and Stressor Related Disorders; DNA:SNPs,haplotypes:multiple PMID:20090668|REF_RGD_ID:401976504 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:2055 post-traumatic stress disorder ISO RGD:1319338 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Post-traumatic stress disorder PMID:18349090 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:2841 asthma ISO RGD:1319338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:289 endometriosis ISO RGD:1319338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:630 genetic disease ISO RGD:1319338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:7148 rheumatoid arthritis ISO RGD:1319338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:809 cocaine abuse sexual_dimorphism ISO RGD:1309155 D RGD:9068941 20240229 RGD mRNA:increased expression:brain (rat) PMID:31029877|REF_RGD_ID:401976486 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1319338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25115650 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:9002735 alcohol withdrawal syndrome severity ISO RGD:1319338 D RGD:9068941 20240229 RGD DNA:SNPs,haplotypes:multiple PMID:24603855|REF_RGD_ID:401976481 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:9003548 Infant, Newborn, Diseases ISO RGD:1319338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25115650 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1319338 D RGD:9068941 20240229 RGD mRNA,protein:incrased expression:liver (human) PMID:33710653|REF_RGD_ID:401976495 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:9006944 Alcoholic Fatty Liver ameliorates ISO RGD:1319339 D RGD:9068941 20240229 RGD PMID:33710653|REF_RGD_ID:401976495 8883413 Fkbp5 FKBP prolyl isomerase 5 gene DOID:9976 heroin dependence susceptibility ISO RGD:1319338 D RGD:9068941 20240229 RGD DNA:SNPs:intron,3'utr: (rs1360780,rs3800373) (human) PMID:24845178|REF_RGD_ID:401976498 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:0050545 visceral heterotaxy ISO RGD:1552230 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:0060321 umbilical hernia ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:0080006 bone development disease ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:0080700 caudal regression syndrome ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:0111546 Currarino syndrome ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:10488 imperforate anus ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:11446 sciatic neuropathy ISO RGD:620326 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nerve: PMID:9729404|REF_RGD_ID:11556234 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:13938 amenorrhea ISO RGD:732125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:14679 VACTERL association ISO RGD:1552230 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.C470R(mouse) PMID:18519639|REF_RGD_ID:11556208 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:14679 VACTERL association ISO RGD:1552230 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:14679 VACTERL association ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:1657 ventricular septal defect ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:1681 heart septal defect ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:234 colon adenocarcinoma ISO RGD:732125 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon: PMID:19737405|REF_RGD_ID:11556207 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:557 kidney disease ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:630 genetic disease ISO RGD:732125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:850 lung disease ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9000066 Jaw Abnormalities ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9001018 Mouth Abnormalities ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9001471 Anorectal Malformations ISO RGD:1552230 D RGD:9068941 20200609 RGD protein:decreased expression:somite PMID:21480163|REF_RGD_ID:11556204 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9002245 Intestinal Neoplasms ISO RGD:1552230 D RGD:9068941 20200609 RGD PMID:19737405|REF_RGD_ID:11556207 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9006182 Carotid Artery Injuries ISO RGD:620326 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:artery: PMID:12649739|REF_RGD_ID:11556213 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:732125 D RGD:9068941 20200609 RGD protein:increased expression:myofibroblast: PMID:14970114|REF_RGD_ID:11556214 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9007794 Lower Extremity Deformities, Congenital ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:732125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18519639 8883433 Pcsk5 proprotein convertase subtilisin/kexin type 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1552230 D RGD:9068941 20220825 MouseDO 8883480 Trib1 tribbles pseudokinase 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1354037 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 8883480 Trib1 tribbles pseudokinase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1354037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8883480 Trib1 tribbles pseudokinase 1 gene DOID:3393 coronary artery disease ISO RGD:1354037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097064 8883480 Trib1 tribbles pseudokinase 1 gene DOID:630 genetic disease ISO RGD:1354037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883480 Trib1 tribbles pseudokinase 1 gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1354037 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes: (rs6982502) (human) PMID:27599772|REF_RGD_ID:401794577 8883518 Trim58 tripartite motif containing 58 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1349557 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8883518 Trim58 tripartite motif containing 58 gene DOID:1540 parathyroid carcinoma ISO RGD:1349557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8883518 Trim58 tripartite motif containing 58 gene DOID:630 genetic disease ISO RGD:1349557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883518 Trim58 tripartite motif containing 58 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8883518 Trim58 tripartite motif containing 58 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1349557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome PMID:28492532 8883518 Trim58 tripartite motif containing 58 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8883542 Prpf19 pre-mRNA processing factor 19 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8883542 Prpf19 pre-mRNA processing factor 19 gene DOID:1059 intellectual disability ISO RGD:1353674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8883542 Prpf19 pre-mRNA processing factor 19 gene DOID:630 genetic disease ISO RGD:1353674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883542 Prpf19 pre-mRNA processing factor 19 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8883542 Prpf19 pre-mRNA processing factor 19 gene DOID:9000918 Disease Progression ISO RGD:1353674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8883542 Prpf19 pre-mRNA processing factor 19 gene DOID:9008386 Hydrops Fetalis ISO RGD:1353674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070221 progressive familial intrahepatic cholestasis ISO RGD:730944 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis PMID:10579978|PMID:12370274|PMID:12717091|PMID:15300568|PMID:16039748|PMID:16290310|PMID:16641580|PMID:17855769|PMID:18395098|PMID:18692205|PMID:19101985|PMID:19750581|PMID:20232290|PMID:20414253|PMID:20683201|PMID:21404481|PMID:21490445|PMID:22364601|PMID:24339557|PMID:25741868|PMID:26382629|PMID:26678486|PMID:26858187|PMID:27050426|PMID:27114171|PMID:27239116|PMID:27426735|PMID:28027573|PMID:28492532|PMID:28733223|PMID:29104077|PMID:29412511|PMID:30210030|PMID:31745229|PMID:32087350|PMID:32309332|PMID:32508937|PMID:32581362|PMID:32808743|PMID:32860008|PMID:33215027|PMID:33915153|PMID:34016879|PMID:9806540 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:730944 D RGD:7240710 20180130 OMIM 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 ISO RGD:730944 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: ABCB11-related condition | ClinVar Annotator: match by term: Familial intrahepatic cholestasis type 2 | ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:10579978|PMID:12370274|PMID:12717091|PMID:14672610|PMID:14999697|PMID:15077010|PMID:15300568|PMID:15317749|PMID:15791618|PMID:16039748|PMID:16199547|PMID:16290310|PMID:16641580|PMID:16763017|PMID:16871584|PMID:17855769|PMID:17947449|PMID:18395098|PMID:18692205|PMID:18798335|PMID:18937870|PMID:19101985|PMID:19571440|PMID:19750581|PMID:19797282|PMID:19845854|PMID:20010382|PMID:20232290|PMID:20414253|PMID:20583290|PMID:20683201|PMID:20799350|PMID:21404481|PMID:21490445|PMID:22364601|PMID:22609309|PMID:22795478|PMID:23022423|PMID:23279303|PMID:23684896|PMID:23750872|PMID:24033266|PMID:24115678|PMID:24214725|PMID:24231640|PMID:24339557|PMID:24402531|PMID:24530123|PMID:24627769|PMID:24969679|PMID:24991443|PMID:25716872|PMID:25741868|PMID:25771912|PMID:25847299|PMID:26019043|PMID:26126923|PMID:26382629|PMID:26678486|PMID:26858187|PMID:27050426|PMID:27114171|PMID:27153395|PMID:27239116|PMID:27368585|PMID:27426735|PMID:28027573|PMID:28454995|PMID:28492532|PMID:28733223|PMID:28776642|PMID:29104077|PMID:29412511|PMID:30210030|PMID:31015375|PMID:31319225|PMID:31538484|PMID:31745229|PMID:32087350|PMID:32309332|PMID:32581362|PMID:32808743|PMID:32860008|PMID:33915153|PMID:34008892|PMID:34016879|PMID:35780807|PMID:9806540 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 disease_progression ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.D482G(human) PMID:20447715|REF_RGD_ID:14402418 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070222 progressive familial intrahepatic cholestasis 2 disease_progression ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:mutation:exon:c.1120G>A(p.Gly374Ser)human PMID:23758865|REF_RGD_ID:14688048 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070223 progressive familial intrahepatic cholestasis 3 ISO RGD:730944 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: MDR3 deficiency PMID:16641580|PMID:18395098|PMID:19101985|PMID:22364601|PMID:25741868|PMID:27114171|PMID:28492532|PMID:28733223|PMID:33915153 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:730944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21056966 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070229 intrahepatic cholestasis of pregnancy 3 ISO RGD:730944 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:10579978|PMID:12370274|PMID:12717091|PMID:15300568|PMID:16039748|PMID:16871584|PMID:17855769|PMID:18395098|PMID:18692205|PMID:19101985|PMID:19750581|PMID:20232290|PMID:20583290|PMID:20683201|PMID:23022423|PMID:23279303|PMID:23750872|PMID:24231640|PMID:24339557|PMID:24402531|PMID:25741868|PMID:26126923|PMID:26858187|PMID:27050426|PMID:27153395|PMID:27426735|PMID:28492532|PMID:28733223|PMID:29104077|PMID:29412511|PMID:29992621|PMID:30091450|PMID:30934130|PMID:31538484|PMID:31745229|PMID:32309332|PMID:32581362|PMID:32808743|PMID:34016879|PMID:9806540 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070232 benign recurrent intrahepatic cholestasis 2 ISO RGD:730944 D RGD:7240710 20180130 OMIM 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:0070232 benign recurrent intrahepatic cholestasis 2 ISO RGD:730944 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 PMID:10579978|PMID:12370274|PMID:12717091|PMID:14672610|PMID:15300568|PMID:15317749|PMID:15791618|PMID:16039748|PMID:16199547|PMID:16290310|PMID:16641580|PMID:16868810|PMID:16871584|PMID:17241866|PMID:17855769|PMID:17947449|PMID:18395098|PMID:18692205|PMID:18798335|PMID:19101985|PMID:19750581|PMID:19845854|PMID:20232290|PMID:20414253|PMID:20583290|PMID:20683201|PMID:21404481|PMID:21490445|PMID:22364601|PMID:22609309|PMID:22795478|PMID:23022423|PMID:23279303|PMID:23437912|PMID:23750872|PMID:24115678|PMID:24231640|PMID:24339557|PMID:24402531|PMID:24530123|PMID:24627769|PMID:24711118|PMID:24969679|PMID:24991443|PMID:25716872|PMID:25741868|PMID:25771912|PMID:25847299|PMID:26019043|PMID:26126923|PMID:26382629|PMID:26678486|PMID:26858187|PMID:27050426|PMID:27114171|PMID:27153395|PMID:27239116|PMID:27368585|PMID:27426735|PMID:28027573|PMID:28119944|PMID:28425419|PMID:28492532|PMID:28733223|PMID:28776642|PMID:29104077|PMID:29404523|PMID:29412511|PMID:29625052|PMID:29992621|PMID:30210030|PMID:30366773|PMID:31015375|PMID:31091858|PMID:31450232|PMID:31538484|PMID:31745229|PMID:32087350|PMID:32309332|PMID:32581362|PMID:32793533|PMID:32808743|PMID:32860008|PMID:32917322|PMID:32942997|PMID:33201677|PMID:33215027|PMID:33915153|PMID:34008892|PMID:34016879|PMID:34942279|PMID:9806540 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:619930 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis ISO RGD:619930 D RGD:9068941 20200609 RGD PMID:12702498|REF_RGD_ID:1598571 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis ISO RGD:619930 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:29087027|REF_RGD_ID:14402412 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis ISO RGD:730944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11179459|PMID:22461449|PMID:24713091 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis susceptibility ISO RGD:730945 D RGD:9068941 20200609 RGD PMID:27593105|REF_RGD_ID:14402414 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:13580 cholestasis treatment ISO RGD:619930 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:1852 intrahepatic cholestasis ISO RGD:730944 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Progressive intrahepatic cholestasis PMID:16641580|PMID:18395098|PMID:19101985|PMID:22364601|PMID:25741868|PMID:27114171|PMID:28492532|PMID:28733223|PMID:33915153 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:1852 intrahepatic cholestasis susceptibility ISO RGD:730944 D RGD:9068941 20200609 RGD PMID:9806540|REF_RGD_ID:1598583 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:730944 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:2236 congenital afibrinogenemia ISO RGD:730944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22120137 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:3571 liver cancer ISO RGD:730945 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:29651702|REF_RGD_ID:14402411 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:5082 liver cirrhosis severity ISO RGD:730944 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) PMID:29755014|REF_RGD_ID:14402415 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:630 genetic disease ISO RGD:730944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10579978|PMID:18395098|PMID:20232290|PMID:26516723|PMID:28492532 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9000808 Hypercholesterolemia ISO RGD:730945 D RGD:9068941 20200609 RGD PMID:21726512|REF_RGD_ID:14688050 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:619930 D RGD:9068941 20200609 RGD PMID:15853769|REF_RGD_ID:1598580 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.1331T>C (rs2287622)(human) PMID:22681771|REF_RGD_ID:14402416 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) PMID:29755014|REF_RGD_ID:14402415 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.1331T>C (rs2287622)(human) PMID:29091211|REF_RGD_ID:14402417 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9005930 Endotoxemia ISO RGD:619930 D RGD:9068941 20200609 RGD PMID:9828229|REF_RGD_ID:1598596 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9006202 Pruritus ISO RGD:730944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pruritus PMID:15300568|PMID:17855769|PMID:25741868|PMID:28492532|PMID:31015375 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:730944 D RGD:9068941 20200609 RGD DNA:SNP: :rs2287616(human) PMID:27293027|REF_RGD_ID:14402413 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8883561 Abcb11 ATP binding cassette subfamily B member 11 gene DOID:9970 obesity ISO RGD:730945 D RGD:9068941 20200609 RGD PMID:21726512|REF_RGD_ID:14688050 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:0060163 body dysmorphic disorder ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:25741868 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1606030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1606030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:7240710 20190315 OMIM 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted | ClinVar Annotator: match by term: USP9X-related condition PMID:25741868|PMID:26833328|PMID:28492532|PMID:31443933|PMID:34008892 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:7240710 20180130 OMIM 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1606030 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: USP9X-related neurodevelopmental disorder PMID:19377476|PMID:24607389|PMID:25741868|PMID:26833328|PMID:28492532|PMID:31443933|PMID:33298948 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:0112048 non-syndromic X-linked intellectual disability 101 ISO RGD:1606030 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 101 PMID:25741868 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:1059 intellectual disability ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:25741868 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:12849 autistic disorder ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:1826 epilepsy ISO RGD:1606030 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:630 genetic disease ISO RGD:1606030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24607389|PMID:24690944|PMID:25741868|PMID:25763846|PMID:26833328|PMID:28492532|PMID:28688840|PMID:31443933 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:9008086 Developmental Disabilities ISO RGD:1606030 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:36937954 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:9008582 Developmental Disease ISO RGD:1606030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8883599 Usp9x ubiquitin specific peptidase 9 X-linked gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1606030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8883652 Traf3ip2 TRAF3 interacting protein 2 gene DOID:0111287 psoriasis 13 ISO RGD:1312403 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Psoriasis 13, susceptibility to PMID:20953186|PMID:20953188|PMID:22581863|PMID:24033266|PMID:24120361|PMID:25741868|PMID:28492532 8883652 Traf3ip2 TRAF3 interacting protein 2 gene DOID:0111287 psoriasis 13 susceptibility ISO RGD:1312403 D RGD:7240710 20240313 OMIM 8883652 Traf3ip2 TRAF3 interacting protein 2 gene DOID:12894 Sjogren's syndrome ISO RGD:1312404 D RGD:9068941 20220825 MouseDO OMIM:270150 8883652 Traf3ip2 TRAF3 interacting protein 2 gene DOID:3310 atopic dermatitis ISO RGD:1312404 D RGD:9068941 20220825 MouseDO OMIM:603165 8883652 Traf3ip2 TRAF3 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312403 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8883652 Traf3ip2 TRAF3 interacting protein 2 gene DOID:8893 psoriasis ISO RGD:1312403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953186|PMID:20953188|PMID:20953190 8883652 Traf3ip2 TRAF3 interacting protein 2 gene DOID:9003552 Candidiasis, Familial, 8 ISO RGD:1312403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 8 PMID:16199547|PMID:17576681|PMID:20953186|PMID:20953188|PMID:22513239|PMID:22581863|PMID:24033266|PMID:24120361|PMID:25741868|PMID:28492532|PMID:9536098 8883652 Traf3ip2 TRAF3 interacting protein 2 gene DOID:9003552 Candidiasis, Familial, 8 susceptibility ISO RGD:1312403 D RGD:7240710 20240313 OMIM 8883652 Traf3ip2 TRAF3 interacting protein 2 gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1312403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Discoid lupus erythematosus PMID:25741868 8883652 Traf3ip2 TRAF3 interacting protein 2 gene DOID:9008 psoriatic arthritis ISO RGD:1312403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953186|PMID:20953188 8883652 Traf3ip2 TRAF3 interacting protein 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1312404 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8883673 Rragd Ras related GTP binding D gene DOID:630 genetic disease ISO RGD:1320660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883673 Rragd Ras related GTP binding D gene DOID:9005972 Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy ISO RGD:1320660 D RGD:7240710 20221214 OMIM 8883673 Rragd Ras related GTP binding D gene DOID:9005972 Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy ISO RGD:1320660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy | ClinVar Annotator: match by term: RRAGD-related condition PMID:34607910 8883687 Tuba8 tubulin alpha 8 gene DOID:0060224 atrial fibrillation ISO RGD:1352677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8883687 Tuba8 tubulin alpha 8 gene DOID:0080482 peroxisome biogenesis disorder 7A ISO RGD:1352677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:12851857|PMID:21031596|PMID:28492532 8883687 Tuba8 tubulin alpha 8 gene DOID:0111996 immunodeficiency 51 ISO RGD:1352677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8883687 Tuba8 tubulin alpha 8 gene DOID:10907 microcephaly ISO RGD:1352677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:31481326 8883687 Tuba8 tubulin alpha 8 gene DOID:11198 DiGeorge syndrome ISO RGD:1352677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8883687 Tuba8 tubulin alpha 8 gene DOID:630 genetic disease ISO RGD:1352677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8883687 Tuba8 tubulin alpha 8 gene DOID:9003883 Isolated Macrothrombocytopenia 2, Autosomal Dominant ISO RGD:1352677 D RGD:7240710 20220504 OMIM 8883687 Tuba8 tubulin alpha 8 gene DOID:9003883 Isolated Macrothrombocytopenia 2, Autosomal Dominant ISO RGD:1352677 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant PMID:25741868|PMID:28492532|PMID:34704371 8883687 Tuba8 tubulin alpha 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8883687 Tuba8 tubulin alpha 8 gene DOID:9006775 Polymicrogyria with Optic Nerve Hypoplasia ISO RGD:1352677 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Polymicrogyria with optic nerve hypoplasia PMID:18414213|PMID:19896110|PMID:20466094|PMID:25741868|PMID:26467025|PMID:28388629|PMID:28492532|PMID:34704371|PMID:34853893 8883687 Tuba8 tubulin alpha 8 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1352677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8883696 Znf362 zinc finger protein 362 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8883696 Znf362 zinc finger protein 362 gene DOID:630 genetic disease ISO RGD:1602182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883708 Mgst1 microsomal glutathione S-transferase 1 gene DOID:0080600 COVID-19 ISO RGD:737343 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8883708 Mgst1 microsomal glutathione S-transferase 1 gene DOID:1289 neurodegenerative disease ISO RGD:737343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 8883708 Mgst1 microsomal glutathione S-transferase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 8883708 Mgst1 microsomal glutathione S-transferase 1 gene DOID:630 genetic disease ISO RGD:737343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:0060041 autism spectrum disorder ISO RGD:730938 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:12973932|PMID:15642853|PMID:18554280|PMID:20399249|PMID:24831986|PMID:25045378|PMID:26161729|PMID:27177722|PMID:28492532 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:0060368 Parkinson's disease 2 ISO RGD:730938 D RGD:7240710 20180502 OMIM 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:0060368 Parkinson's disease 2 ISO RGD:730938 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:10072423|PMID:10319889|PMID:10824074|PMID:10894217|PMID:10939576|PMID:10983716|PMID:11009195|PMID:11163284|PMID:11179010|PMID:11222808|PMID:11402119|PMID:11405814|PMID:11487568|PMID:11558785|PMID:11889248|PMID:11971093|PMID:12056932|PMID:12114481|PMID:12116199|PMID:12397156|PMID:12629236|PMID:12707451|PMID:12707457|PMID:12730996|PMID:12764050|PMID:12764051|PMID:12781588|PMID:12891670|PMID:12973932|PMID:12975291|PMID:14519684|PMID:14639672|PMID:15090472|PMID:15193026|PMID:15197707|PMID:15254940|PMID:15266615|PMID:15390068|PMID:15606901|PMID:15642853|PMID:15729528|PMID:15816865|PMID:15823482|PMID:15970950|PMID:16049031|PMID:16086186|PMID:16130111|PMID:16227559|PMID:16269266|PMID:16328510|PMID:16339143|PMID:16367892|PMID:16476817|PMID:16500134|PMID:16606767|PMID:16643317|PMID:16714300|PMID:16769863|PMID:16793319|PMID:17095157|PMID:17187375|PMID:17415800|PMID:17766365|PMID:17914726|PMID:18211709|PMID:18413468|PMID:18485927|PMID:18486522|PMID:18514563|PMID:18519021|PMID:18554280|PMID:18685134|PMID:18785233|PMID:18927607|PMID:18951541|PMID:18973255|PMID:19006224|PMID:19087301|PMID:19162522|PMID:19205068|PMID:19351622|PMID:19405094|PMID:19636047|PMID:19715670|PMID:19801972|PMID:19891003|PMID:19922375|PMID:19946270|PMID:20301651|PMID:20399249|PMID:20404107|PMID:20457763|PMID:20558392|PMID:20604804|PMID:20643691|PMID:20798600|PMID:21215313|PMID:21322020|PMID:21348451|PMID:21534944|PMID:21625934|PMID:21681106|PMID:21694720|PMID:21993715|PMID:21996382|PMID:22118943|PMID:22233331|PMID:22243833|PMID:22302706|PMID:22523156|PMID:22555654|PMID:22766139|PMID:22777964|PMID:22956510|PMID:22995991|PMID:23275044|PMID:23531835|PMID:23727886|PMID:23751051|PMID:23770917|PMID:23818421|PMID:23835509|PMID:23880019|PMID:23986421|PMID:24033266|PMID:24082139|PMID:24167364|PMID:24375549|PMID:24647965|PMID:24677602|PMID:24816432|PMID:24831986|PMID:25045378|PMID:25174650|PMID:25238391|PMID:25284222|PMID:25558820|PMID:25591737|PMID:25640679|PMID:25741868|PMID:25815004|PMID:25833766|PMID:25877876|PMID:25907632|PMID:25939424|PMID:26116755|PMID:26161729|PMID:26188007|PMID:26274610|PMID:26467025|PMID:26556299|PMID:26631732|PMID:26683220|PMID:26764160|PMID:26830385|PMID:26836416|PMID:26855076|PMID:27094865|PMID:27177722|PMID:27182553|PMID:27206984|PMID:27294386|PMID:27534820|PMID:27776828|PMID:28492532|PMID:28862745|PMID:29353703|PMID:29530980|PMID:29606608|PMID:29910155|PMID:29967542|PMID:30099245|PMID:30200940|PMID:30502028|PMID:30537300|PMID:30609409|PMID:30994895|PMID:31147223|PMID:31182772|PMID:31217084|PMID:31285534|PMID:31324919|PMID:31409571|PMID:31429726|PMID:31660654|PMID:31695088|PMID:31929871|PMID:32214227|PMID:32442813|PMID:32870915|PMID:32970363|PMID:33045815|PMID:33150996|PMID:33166806|PMID:33497488|PMID:33845304|PMID:34426522|PMID:35640906|PMID:35954270|PMID:7565830|PMID:9560156|PMID:9634531|PMID:9731209|PMID:9802278|PMID:9851438 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:0080855 Parkinsonism ISO RGD:730938 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Juvenile parkinsonism | ClinVar Annotator: match by term: Parkinson Disease, Juvenile PMID:10072423|PMID:11558785|PMID:11889248|PMID:12114481|PMID:12629236|PMID:12730996|PMID:12764050|PMID:12764051|PMID:12891670|PMID:14519684|PMID:15390068|PMID:15970950|PMID:16049031|PMID:16227559|PMID:16367892|PMID:16476817|PMID:16714300|PMID:17766365|PMID:18211709|PMID:18519021|PMID:18973255|PMID:19162522|PMID:19205068|PMID:19636047|PMID:19801972|PMID:20457763|PMID:20558392|PMID:20798600|PMID:22118943|PMID:22555654|PMID:23275044|PMID:23531835|PMID:24033266|PMID:24082139|PMID:24167364|PMID:24647965|PMID:24831986|PMID:25591737|PMID:25741868|PMID:25815004|PMID:25877876|PMID:25907632|PMID:25939424|PMID:26188007|PMID:26274610|PMID:26467025|PMID:26556299|PMID:26683220|PMID:26764160|PMID:26836416|PMID:26855076|PMID:27182553|PMID:27294386|PMID:28492532|PMID:29353703|PMID:30200940|PMID:30537300|PMID:30609409|PMID:30994895|PMID:31409571|PMID:32870915|PMID:32970363|PMID:33045815|PMID:33497488|PMID:33845304|PMID:34426522|PMID:35640906|PMID:35954270 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:730938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:1024 leprosy ISO RGD:730938 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: LPRS2 PMID:10072423|PMID:11558785|PMID:11889248|PMID:12114481|PMID:12730996|PMID:12764051|PMID:12891670|PMID:14519684|PMID:15390068|PMID:15970950|PMID:16049031|PMID:16714300|PMID:17766365|PMID:19162522|PMID:19636047|PMID:19801972|PMID:20457763|PMID:20558392|PMID:20798600|PMID:22118943|PMID:22555654|PMID:23531835|PMID:24033266|PMID:24082139|PMID:24647965|PMID:24831986|PMID:25591737|PMID:25741868|PMID:25815004|PMID:25907632|PMID:25939424|PMID:26188007|PMID:26467025|PMID:26683220|PMID:26764160|PMID:26836416|PMID:26855076|PMID:27182553|PMID:27294386|PMID:28492532|PMID:29353703|PMID:30200940|PMID:30537300|PMID:30609409|PMID:30994895|PMID:31409571|PMID:32970363|PMID:33045815|PMID:33497488|PMID:33845304|PMID:35640906|PMID:35954270 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:10652 Alzheimer's disease ISO RGD:730938 D RGD:9068941 20200609 RGD protein:increased expression:vessel,astrocyte: PMID:19716418|REF_RGD_ID:10412736 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:10652 Alzheimer's disease treatment ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:24105468|REF_RGD_ID:10412735 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:12217 Lewy body dementia ISO RGD:730938 D RGD:9068941 20200609 RGD PMID:17467279|REF_RGD_ID:10412737 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:12849 autistic disorder ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:12858 Huntington's disease ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:19464273|REF_RGD_ID:10412729 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:1324 lung cancer ISO RGD:730938 D RGD:7240710 20240124 OMIM 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:13548 secondary Parkinson disease ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993444 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:28695462|REF_RGD_ID:13432207 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12588799|PMID:15198987|PMID:15882845|PMID:16573651|PMID:17010972|PMID:19946270|PMID:22043175|PMID:22841634|PMID:23628791|PMID:24582596|PMID:25149416|PMID:25631236|PMID:28284907 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 RGD PMID:25639775|PMID:26223426|REF_RGD_ID:10450518|REF_RGD_ID:10450521 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 RGD DNA:deletions:exons: (human) PMID:9560156|REF_RGD_ID:9693725 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:12629236|REF_RGD_ID:737763 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease ISO RGD:730938 D RGD:9068941 20200609 RGD protein:increased tyrosine-phosphorylation:substantia nigra, striatum, PMID:20823226|REF_RGD_ID:8693409 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease treatment ISO RGD:61797 D RGD:9068941 20200609 RGD PMID:28526446|REF_RGD_ID:13432567 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease treatment ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:28583715|REF_RGD_ID:13432563 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:14330 Parkinson's disease treatment ISO RGD:730938 D RGD:9068941 20200609 RGD PMID:16914382|REF_RGD_ID:10413859 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:1561 cognitive disorder treatment ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:28532818|REF_RGD_ID:13432566 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:224 transient cerebral ischemia ISO RGD:62089 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, striatum: PMID:12415119|REF_RGD_ID:10413862 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:2377 multiple sclerosis ISO RGD:730938 D RGD:9068941 20200609 RGD protein:increased expression:white matter,astrocyte: PMID:19716418|REF_RGD_ID:10412736 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:2394 ovarian cancer ISO RGD:730938 D RGD:7240710 20190213 OMIM 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:3068 glioblastoma ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19946270 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:3905 lung carcinoma ISO RGD:730938 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:10072423|PMID:11558785|PMID:11889248|PMID:12114481|PMID:12730996|PMID:12764051|PMID:12891670|PMID:14519684|PMID:15390068|PMID:15970950|PMID:16049031|PMID:16714300|PMID:17766365|PMID:19162522|PMID:19636047|PMID:19801972|PMID:20457763|PMID:20558392|PMID:20798600|PMID:22118943|PMID:22555654|PMID:23531835|PMID:24033266|PMID:24082139|PMID:24647965|PMID:24831986|PMID:25591737|PMID:25741868|PMID:25815004|PMID:25907632|PMID:25939424|PMID:26188007|PMID:26467025|PMID:26683220|PMID:26764160|PMID:26836416|PMID:26855076|PMID:27182553|PMID:27294386|PMID:28492532|PMID:29353703|PMID:30200940|PMID:30537300|PMID:30609409|PMID:30994895|PMID:31409571|PMID:32970363|PMID:33045815|PMID:33497488|PMID:33845304|PMID:35640906|PMID:35954270 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:3910 lung adenocarcinoma ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12719539 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:4362 cervical cancer disease_progression ISO RGD:730938 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix (human) PMID:28631565|REF_RGD_ID:13432557 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:5119 ovarian cyst ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:5419 schizophrenia ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:730938 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16500134|PMID:16769863|PMID:17187375|PMID:20558392|PMID:26467025|PMID:28492532 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:684 hepatocellular carcinoma severity ISO RGD:62089 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:28862485|REF_RGD_ID:13432206 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:8927 learning disability ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12915482 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9000304 Manganese Poisoning ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20089134 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:61797 D RGD:9068941 20200609 RGD PMID:28546552|REF_RGD_ID:13432565 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:62089 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:28663335|REF_RGD_ID:13432209 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:61797 D RGD:9068941 20200609 RGD PMID:26882442|REF_RGD_ID:12910839 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9002762 Ovarian Neoplasms ISO RGD:730938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10072423|PMID:11558785|PMID:11889248|PMID:11971093|PMID:12116199|PMID:12629236|PMID:12719539|PMID:12730996|PMID:12764050|PMID:12891670|PMID:14519684|PMID:15390068|PMID:15823482|PMID:15970950|PMID:16049031|PMID:16227559|PMID:16367892|PMID:16476817|PMID:16714300|PMID:17766365|PMID:18211709|PMID:18519021|PMID:18973255|PMID:19162522|PMID:19205068|PMID:19405094|PMID:19636047|PMID:19801972|PMID:20457763|PMID:20798600|PMID:22118943|PMID:22555654|PMID:23275044|PMID:23531835|PMID:24033266|PMID:24082139|PMID:24167364|PMID:24831986|PMID:25591737|PMID:25741868|PMID:25815004|PMID:25877876|PMID:25907632|PMID:25939424|PMID:26188007|PMID:26274610|PMID:26467025|PMID:26764160|PMID:26836416|PMID:26855076|PMID:27182553|PMID:27294386|PMID:28492532 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9002762 Ovarian Neoplasms ISO RGD:730938 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10072423|PMID:11558785|PMID:11889248|PMID:12114481|PMID:12629236|PMID:12719539|PMID:12730996|PMID:12764050|PMID:12764051|PMID:12891670|PMID:14519684|PMID:15390068|PMID:15970950|PMID:16049031|PMID:16227559|PMID:16367892|PMID:16476817|PMID:16714300|PMID:17766365|PMID:18211709|PMID:18519021|PMID:18973255|PMID:19162522|PMID:19205068|PMID:19636047|PMID:19801972|PMID:20457763|PMID:20558392|PMID:20798600|PMID:22118943|PMID:22555654|PMID:23275044|PMID:23531835|PMID:24033266|PMID:24082139|PMID:24167364|PMID:24647965|PMID:24831986|PMID:25591737|PMID:25741868|PMID:25815004|PMID:25877876|PMID:25907632|PMID:25939424|PMID:26188007|PMID:26274610|PMID:26467025|PMID:26556299|PMID:26683220|PMID:26764160|PMID:26836416|PMID:26855076|PMID:27182553|PMID:27294386|PMID:28492532|PMID:29353703|PMID:30200940|PMID:30537300|PMID:30609409|PMID:30994895|PMID:31409571|PMID:32870915|PMID:32970363|PMID:33045815|PMID:33497488|PMID:33845304|PMID:34426522|PMID:35640906|PMID:35954270 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9002928 Colonic Neoplasms ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19946270 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9002955 Nerve Degeneration ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17687034 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:28522833|REF_RGD_ID:13432569 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9005172 Lung Neoplasms ISO RGD:730938 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism PMID:19946270|PMID:25640678 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9005930 Endotoxemia ISO RGD:62089 D RGD:9068941 20200609 RGD protein:increased expression:liver, mitochondrion (mouse) PMID:28615325|REF_RGD_ID:13432559 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9006205 Animal Disease Models ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15882845 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9008023 Memory Disorders ISO RGD:730938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12915482 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9255 frontotemporal dementia disease_progression ISO RGD:62089 D RGD:9068941 20200609 RGD PMID:18817929|REF_RGD_ID:10412726 8883716 Prkn parkin RBR E3 ubiquitin protein ligase gene DOID:9352 type 2 diabetes mellitus ISO RGD:61797 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (rat) PMID:28573460|REF_RGD_ID:13432564 8883751 Scn7a sodium voltage-gated channel alpha subunit 7 gene DOID:12849 autistic disorder ISO RGD:1601888 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 8883751 Scn7a sodium voltage-gated channel alpha subunit 7 gene DOID:3454 brain infarction ISO RGD:61922 D RGD:9068941 20230527 RGD mRNA:increased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8883751 Scn7a sodium voltage-gated channel alpha subunit 7 gene DOID:630 genetic disease ISO RGD:1601888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8883780 Gramd1a GRAM domain containing 1A gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1322253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8883780 Gramd1a GRAM domain containing 1A gene DOID:630 genetic disease ISO RGD:1322253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:10283 prostate cancer ISO RGD:68478 D RGD:9068941 20200609 RGD PMID:26677064|REF_RGD_ID:11561757 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:1059 intellectual disability ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:1826 epilepsy ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:219 colon cancer ISO RGD:68478 D RGD:9068941 20200609 RGD PMID:18663744|REF_RGD_ID:13432043 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:68478 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:15591514|REF_RGD_ID:14390084 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:68341 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33818783 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:68479 D RGD:9068941 20200609 RGD PMID:22733740|REF_RGD_ID:13432042 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:68478 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:21984976|PMID:25741868 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9004356 Smith-Kingsmore Syndrome ISO RGD:68478 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Overgrowth syndrome PMID:25741868 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9008086 Developmental Disabilities ISO RGD:68478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68478 D RGD:7240710 20190327 OMIM 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:68478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:16357568|PMID:17576681|PMID:17675034|PMID:21984976|PMID:22729224|PMID:23745724|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28166811|PMID:28492532|PMID:28502725|PMID:33818783|PMID:34170046|PMID:9536098 8883847 Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 gene DOID:9538 multiple myeloma ISO RGD:68478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8883866 Nap1l4 nucleosome assembly protein 1 like 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8883866 Nap1l4 nucleosome assembly protein 1 like 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1313394 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8883866 Nap1l4 nucleosome assembly protein 1 like 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8883866 Nap1l4 nucleosome assembly protein 1 like 4 gene DOID:630 genetic disease ISO RGD:1313394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883866 Nap1l4 nucleosome assembly protein 1 like 4 gene DOID:9002669 Hypoxia ISO RGD:1305391 D RGD:9068941 20200609 RGD protein:decreased dimerization:hippocampus (rat) PMID:24893663|REF_RGD_ID:9590077 8883903 Znf580 zinc finger protein 580 gene DOID:630 genetic disease ISO RGD:1315767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883909 Foxb1 forkhead box B1 gene DOID:2717 Bloom syndrome ISO RGD:1313112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8883909 Foxb1 forkhead box B1 gene DOID:630 genetic disease ISO RGD:1313112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883909 Foxb1 forkhead box B1 gene DOID:9256 colorectal cancer ISO RGD:1313112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8883916 Ninl ninein like gene DOID:0060041 autism spectrum disorder ISO RGD:1604826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8883916 Ninl ninein like gene DOID:12849 autistic disorder ISO RGD:1604826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8883916 Ninl ninein like gene DOID:630 genetic disease ISO RGD:1604826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883968 Tafa4 TAFA chemokine like family member 4 gene DOID:630 genetic disease ISO RGD:1345564 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883968 Tafa4 TAFA chemokine like family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1345564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 8883978 Lrwd1 leucine rich repeats and WD repeat domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8883978 Lrwd1 leucine rich repeats and WD repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:1603534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8883997 LOC102015775 cytochrome c oxidase subunit 7A-related protein, mitochondrial gene DOID:3883 Lynch syndrome ISO RGD:1314534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8884018 Diras1 DIRAS family GTPase 1 gene DOID:308 early myoclonic encephalopathy ISO RGD:12107474 D RGD:9068941 20210604 OMIA Epilepsy, generalized myoclonic, with photosensitivity PMID:28223533|PMID:29194766 8884018 Diras1 DIRAS family GTPase 1 gene DOID:630 genetic disease ISO RGD:1321350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884018 Diras1 DIRAS family GTPase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8884023 Krt26 keratin 26 gene DOID:630 genetic disease ISO RGD:1343053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884037 Ermard ER membrane associated RNA degradation gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1319689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8884037 Ermard ER membrane associated RNA degradation gene DOID:1826 epilepsy ISO RGD:1319689 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8884037 Ermard ER membrane associated RNA degradation gene DOID:630 genetic disease ISO RGD:1319689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8884037 Ermard ER membrane associated RNA degradation gene DOID:9004295 Periventricular Nodular Heterotopia 6 ISO RGD:1319689 D RGD:7240710 20180130 OMIM 8884037 Ermard ER membrane associated RNA degradation gene DOID:9004295 Periventricular Nodular Heterotopia 6 ISO RGD:1319689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 PMID:24056535|PMID:25741868|PMID:28492532 8884105 Rasal3 RAS protein activator like 3 gene DOID:630 genetic disease ISO RGD:2302537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884105 Rasal3 RAS protein activator like 3 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:2302537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 8884128 M1ap meiosis 1 associated protein gene DOID:0070168 spermatogenic failure 3 ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:32673564 8884128 M1ap meiosis 1 associated protein gene DOID:0070176 spermatogenic failure 4 ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenesis maturation arrest PMID:32017041 8884128 M1ap meiosis 1 associated protein gene DOID:0112176 spermatogenic failure 48 ISO RGD:1604532 D RGD:7240710 20201209 OMIM 8884128 M1ap meiosis 1 associated protein gene DOID:0112176 spermatogenic failure 48 ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 48 PMID:25741868|PMID:32017041|PMID:32673564 8884128 M1ap meiosis 1 associated protein gene DOID:630 genetic disease ISO RGD:1604532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884128 M1ap meiosis 1 associated protein gene DOID:9003436 CRYPTOZOOSPERMIA ISO RGD:1604532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptozoospermia PMID:25741868|PMID:32673564 8884158 Rasal2 RAS protein activator like 2 gene DOID:10283 prostate cancer ISO RGD:1316836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8884158 Rasal2 RAS protein activator like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8884158 Rasal2 RAS protein activator like 2 gene DOID:630 genetic disease ISO RGD:1316836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884158 Rasal2 RAS protein activator like 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1316836 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 8884158 Rasal2 RAS protein activator like 2 gene DOID:9000918 Disease Progression ISO RGD:1316836 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 8884158 Rasal2 RAS protein activator like 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:1316836 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 8884158 Rasal2 RAS protein activator like 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316836 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34826200 8884158 Rasal2 RAS protein activator like 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8884158 Rasal2 RAS protein activator like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8884224 Poc5 POC5 centriolar protein gene DOID:0060249 scoliosis ISO RGD:1605874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25642776|PMID:25741868|PMID:28492532 8884224 Poc5 POC5 centriolar protein gene DOID:10584 retinitis pigmentosa ISO RGD:1605874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic retinitis pigmentosa PMID:29272404 8884224 Poc5 POC5 centriolar protein gene DOID:3323 Sandhoff disease ISO RGD:1605874 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 8884224 Poc5 POC5 centriolar protein gene DOID:630 genetic disease ISO RGD:1605874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8884224 Poc5 POC5 centriolar protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8884247 Bsg basigin (Ok blood group) gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:10249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8884247 Bsg basigin (Ok blood group) gene DOID:0080600 COVID-19 ISO RGD:10249 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:32307653 8884247 Bsg basigin (Ok blood group) gene DOID:14067 Plasmodium falciparum malaria ISO RGD:10249 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22080952|PMID:26195724 8884247 Bsg basigin (Ok blood group) gene DOID:1793 pancreatic cancer ISO RGD:10249 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36574092 8884247 Bsg basigin (Ok blood group) gene DOID:1909 melanoma ISO RGD:10249 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36574092 8884247 Bsg basigin (Ok blood group) gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:10249 D RGD:9068941 20200609 RGD PMID:17671123|REF_RGD_ID:2289051 8884247 Bsg basigin (Ok blood group) gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:10249 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17342307|REF_RGD_ID:2296029 8884247 Bsg basigin (Ok blood group) gene DOID:3007 breast ductal carcinoma ISO RGD:10249 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:9154157|REF_RGD_ID:2289059 8884247 Bsg basigin (Ok blood group) gene DOID:3275 thymoma ISO RGD:10249 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36574092 8884247 Bsg basigin (Ok blood group) gene DOID:3907 lung squamous cell carcinoma ISO RGD:10249 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:9154157|REF_RGD_ID:2289059 8884247 Bsg basigin (Ok blood group) gene DOID:3948 adrenocortical carcinoma ISO RGD:10249 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36574092 8884247 Bsg basigin (Ok blood group) gene DOID:4362 cervical cancer disease_progression ISO RGD:10249 D RGD:9068941 20200609 RGD PMID:18223224|REF_RGD_ID:2296028 8884247 Bsg basigin (Ok blood group) gene DOID:4450 renal cell carcinoma ISO RGD:10249 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36574092 8884247 Bsg basigin (Ok blood group) gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:10249 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17021824|REF_RGD_ID:2289052 8884247 Bsg basigin (Ok blood group) gene DOID:5744 ovary serous adenocarcinoma ISO RGD:10249 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16633062|REF_RGD_ID:2289053 8884247 Bsg basigin (Ok blood group) gene DOID:630 genetic disease ISO RGD:10249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884247 Bsg basigin (Ok blood group) gene DOID:684 hepatocellular carcinoma ISO RGD:10249 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36574092 8884247 Bsg basigin (Ok blood group) gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:10249 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:16004819|REF_RGD_ID:2289055 8884247 Bsg basigin (Ok blood group) gene DOID:9000117 Esophageal Neoplasms ISO RGD:10249 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36574092 8884247 Bsg basigin (Ok blood group) gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:10249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18647594 8884247 Bsg basigin (Ok blood group) gene DOID:9000965 Neoplasm Metastasis ISO RGD:10249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21956400 8884247 Bsg basigin (Ok blood group) gene DOID:9002170 Experimental Neoplasms ISO RGD:10249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21165561 8884247 Bsg basigin (Ok blood group) gene DOID:9002304 Prostatic Neoplasms ISO RGD:10249 D RGD:9068941 20200609 RGD PMID:16627983|REF_RGD_ID:2289054 8884247 Bsg basigin (Ok blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:2220 D RGD:9068941 20200609 RGD protein:increased expression:basal ganglia PMID:16029217|REF_RGD_ID:2289063 8884247 Bsg basigin (Ok blood group) gene DOID:9004575 Neoplasm Invasiveness ISO RGD:10249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21165561 8884247 Bsg basigin (Ok blood group) gene DOID:9007456 Female Infertility ISO RGD:10248 D RGD:9068941 20200609 RGD PMID:9559645|REF_RGD_ID:734663 8884264 Duoxa1 dual oxidase maturation factor 1 gene DOID:0050712 AGAT deficiency ISO RGD:1602196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8884264 Duoxa1 dual oxidase maturation factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1602196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8884264 Duoxa1 dual oxidase maturation factor 1 gene DOID:630 genetic disease ISO RGD:1602196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884264 Duoxa1 dual oxidase maturation factor 1 gene DOID:9256 colorectal cancer ISO RGD:1602196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8884281 Abhd13 abhydrolase domain containing 13 gene DOID:630 genetic disease ISO RGD:1318018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884281 Abhd13 abhydrolase domain containing 13 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1318018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8884290 Egf epidermal growth factor gene DOID:0050782 Zollinger-Ellison syndrome ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:saliva PMID:10811321|REF_RGD_ID:2317668 8884290 Egf epidermal growth factor gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24119107|REF_RGD_ID:10059681 8884290 Egf epidermal growth factor gene DOID:0060071 pre-malignant neoplasm ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26390243 8884290 Egf epidermal growth factor gene DOID:0060879 primary hypomagnesemia ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:17671655|REF_RGD_ID:6906911 8884290 Egf epidermal growth factor gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:736832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive PMID:28492532 8884290 Egf epidermal growth factor gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:736832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive PMID:28492532 8884290 Egf epidermal growth factor gene DOID:0060882 renal hypomagnesemia 4 ISO RGD:736832 D RGD:7240710 20180130 OMIM 8884290 Egf epidermal growth factor gene DOID:0060882 renal hypomagnesemia 4 ISO RGD:736832 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 4 PMID:17576681|PMID:17671655|PMID:18550579|PMID:25741868|PMID:28492532|PMID:9536098 8884290 Egf epidermal growth factor gene DOID:0080162 lupus nephritis ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:21354048|REF_RGD_ID:5688301 8884290 Egf epidermal growth factor gene DOID:10652 Alzheimer's disease ISO RGD:736832 D RGD:9068941 20200609 RGD protein:decreased expression:platelet PMID:21875409|REF_RGD_ID:10059680 8884290 Egf epidermal growth factor gene DOID:10808 gastric ulcer ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9324159|PMID:9479624 8884290 Egf epidermal growth factor gene DOID:12385 shigellosis treatment ISO RGD:10510 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 8884290 Egf epidermal growth factor gene DOID:12849 autistic disorder ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17626784 8884290 Egf epidermal growth factor gene DOID:1380 endometrial cancer severity ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:snps:5'utr:multiple (human) PMID:19319135|REF_RGD_ID:13673915 8884290 Egf epidermal growth factor gene DOID:14330 Parkinson's disease disease_progression ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:21520231|REF_RGD_ID:10059679 8884290 Egf epidermal growth factor gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:1347773|REF_RGD_ID:2317650 8884290 Egf epidermal growth factor gene DOID:2394 ovarian cancer ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22914212|REF_RGD_ID:13673914 8884290 Egf epidermal growth factor gene DOID:2723 dermatitis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 8884290 Egf epidermal growth factor gene DOID:299 adenocarcinoma ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23064031 8884290 Egf epidermal growth factor gene DOID:3021 acute kidney failure ISO RGD:2542 D RGD:9068941 20230610 RGD mRNA:decreased expression:kidney PMID:11340354|REF_RGD_ID:10395241 8884290 Egf epidermal growth factor gene DOID:3021 acute kidney failure ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:20482449|REF_RGD_ID:6906908 8884290 Egf epidermal growth factor gene DOID:3068 glioblastoma ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16598420 8884290 Egf epidermal growth factor gene DOID:3068 glioblastoma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:+61A>G(human) PMID:22481252|REF_RGD_ID:13702472 8884290 Egf epidermal growth factor gene DOID:3070 high grade glioma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:+61A>G(human) PMID:22106858|REF_RGD_ID:13702473 8884290 Egf epidermal growth factor gene DOID:3070 high grade glioma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:GG genotypes were associated with increased risk. PMID:17473192|REF_RGD_ID:13702474 8884290 Egf epidermal growth factor gene DOID:3121 gallbladder cancer ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:8093356|REF_RGD_ID:2317646 8884290 Egf epidermal growth factor gene DOID:3121 gallbladder cancer susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:SNP: :+61A>G (rs4444903)(human) PMID:18571008|REF_RGD_ID:2317641 8884290 Egf epidermal growth factor gene DOID:3181 oligodendroglioma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:GG genotypes were associated with increased risk. PMID:17473192|REF_RGD_ID:13702474 8884290 Egf epidermal growth factor gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:18505086|REF_RGD_ID:2317644 8884290 Egf epidermal growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17266442 8884290 Egf epidermal growth factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:25992884|REF_RGD_ID:13464350 8884290 Egf epidermal growth factor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:26927662|REF_RGD_ID:13464348 8884290 Egf epidermal growth factor gene DOID:3910 lung adenocarcinoma ISO RGD:736832 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A61G (human) PMID:26625757|REF_RGD_ID:11538684 8884290 Egf epidermal growth factor gene DOID:4455 hereditary renal cell carcinoma ISO RGD:736832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma 8884290 Egf epidermal growth factor gene DOID:4947 cholangiocarcinoma ISO RGD:736832 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:18550579|PMID:28492532 8884290 Egf epidermal growth factor gene DOID:4989 pancreatitis ISO RGD:736832 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20127414|REF_RGD_ID:2317638 8884290 Egf epidermal growth factor gene DOID:5419 schizophrenia ISO RGD:736832 D RGD:9068941 20200609 RGD protein:decreased expression:brain, serum PMID:12192610|REF_RGD_ID:5131451 8884290 Egf epidermal growth factor gene DOID:552 pneumonia resistance ISO RGD:10510 D RGD:9068941 20200609 RGD PMID:21701422|REF_RGD_ID:6906904 8884290 Egf epidermal growth factor gene DOID:557 kidney disease ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21865292 8884290 Egf epidermal growth factor gene DOID:630 genetic disease ISO RGD:736832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8884290 Egf epidermal growth factor gene DOID:674 cleft palate ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11399798 8884290 Egf epidermal growth factor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8884290 Egf epidermal growth factor gene DOID:684 hepatocellular carcinoma ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 8884290 Egf epidermal growth factor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:exon: (rs11569017) (human) PMID:23790025|REF_RGD_ID:14695014 8884290 Egf epidermal growth factor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:736832 D RGD:9068941 20200609 RGD associated with liver cirrhosis;DNA:SNP:5'UTR: (rs4444903) (human) PMID:18167406|REF_RGD_ID:14695013 8884290 Egf epidermal growth factor gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:2542 D RGD:9068941 20230610 RGD PMID:18607263|PMID:19390485|REF_RGD_ID:10395236|REF_RGD_ID:2317627 8884290 Egf epidermal growth factor gene DOID:9000156 Metaplasia ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26390243 8884290 Egf epidermal growth factor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14514962 8884290 Egf epidermal growth factor gene DOID:9000918 Disease Progression ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21794976 8884290 Egf epidermal growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21942447|PMID:23064031 8884290 Egf epidermal growth factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8884290 Egf epidermal growth factor gene DOID:9001600 Wounds and Injuries ISO RGD:2542 D RGD:9068941 20230610 RGD PMID:15885173|REF_RGD_ID:6906918 8884290 Egf epidermal growth factor gene DOID:9001600 Wounds and Injuries ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21967610 8884290 Egf epidermal growth factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:17475821|REF_RGD_ID:6906912 8884290 Egf epidermal growth factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16340751 8884290 Egf epidermal growth factor gene DOID:9004009 Reperfusion Injury ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 8884290 Egf epidermal growth factor gene DOID:9004009 Reperfusion Injury resistance ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:16417467|REF_RGD_ID:6906916 8884290 Egf epidermal growth factor gene DOID:9004210 Tympanic Membrane Perforation treatment ISS RGD:736832 D RGD:11556276|PMID:1437205 20161102 RGD 8884290 Egf epidermal growth factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15802018|PMID:22869556|PMID:23064031|PMID:24587105|PMID:27634460 8884290 Egf epidermal growth factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12687016|PMID:18245498|PMID:18995957 8884290 Egf epidermal growth factor gene DOID:9007715 Endometrial Neoplasms severity ISO RGD:736832 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:25416211|REF_RGD_ID:13432197 8884290 Egf epidermal growth factor gene DOID:9008114 Helicobacter Infections treatment ISO RGD:736832 D RGD:9068941 20200911 RGD associated with gastritis; PMID:25051417|REF_RGD_ID:38599160 8884290 Egf epidermal growth factor gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:736832 D RGD:9068941 20200609 RGD PMID:19357719|REF_RGD_ID:6906909 8884290 Egf epidermal growth factor gene DOID:9008939 Breast Neoplasms ISO RGD:736832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16175315|PMID:21942447|PMID:23064031 8884333 Gata1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:15572684|REF_RGD_ID:10450734 8884333 Gata1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:10621 D RGD:9068941 20220825 MouseDO OMIM:614286 8884333 Gata1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:731384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28963909 8884333 Gata1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:731384 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:17570514|REF_RGD_ID:10450752 8884333 Gata1 GATA binding protein 1 gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:731384 D RGD:9068941 20200609 RGD PMID:12145700|REF_RGD_ID:10450753 8884333 Gata1 GATA binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8884333 Gata1 GATA binding protein 1 gene DOID:0060888 transient myeloproliferative syndrome ISO RGD:731384 D RGD:7240710 20231025 OMIM 8884333 Gata1 GATA binding protein 1 gene DOID:0060888 transient myeloproliferative syndrome ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transient myeloproliferative syndrome PMID:27993330 8884333 Gata1 GATA binding protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8884333 Gata1 GATA binding protein 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:731384 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome | ClinVar Annotator: match by term: Leukemia, megakaryoblastic, of Down syndrome PMID:12172547|PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:27993330|PMID:28492532 8884333 Gata1 GATA binding protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8884333 Gata1 GATA binding protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8884333 Gata1 GATA binding protein 1 gene DOID:0111767 X-linked thrombocytopenia with beta-thalassemia ISO RGD:731384 D RGD:7240710 20180130 OMIM 8884333 Gata1 GATA binding protein 1 gene DOID:0111767 X-linked thrombocytopenia with beta-thalassemia ISO RGD:731384 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Beta-thalassemia-X-linked thrombocytopenia syndrome | ClinVar Annotator: match by term: Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis PMID:12200364|PMID:14691578|PMID:16783379|PMID:17148589|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:22706301|PMID:23704091|PMID:24453067|PMID:25741868|PMID:28492532|PMID:871527 8884333 Gata1 GATA binding protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8884333 Gata1 GATA binding protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:731384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8884333 Gata1 GATA binding protein 1 gene DOID:0112156 X-linked dyserythropoietic anemia ISO RGD:731384 D RGD:7240710 20180130 OMIM 8884333 Gata1 GATA binding protein 1 gene DOID:0112156 X-linked dyserythropoietic anemia ISO RGD:731384 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES PMID:12200364|PMID:14691578|PMID:15895080|PMID:16783379|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23704091|PMID:24453067|PMID:24766296|PMID:24952648|PMID:25741868|PMID:28492532|PMID:29146883|PMID:871527 8884333 Gata1 GATA binding protein 1 gene DOID:12241 beta thalassemia treatment ISO RGD:731384 D RGD:9068941 20200609 RGD PMID:16696909|REF_RGD_ID:10450613 8884333 Gata1 GATA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8884333 Gata1 GATA binding protein 1 gene DOID:1324 lung cancer ISO RGD:731384 D RGD:9068941 20210716 RGD mRNA:increased expression:regulatory T cell:lung associated T cell PMID:28814673|REF_RGD_ID:149735197 8884333 Gata1 GATA binding protein 1 gene DOID:13271 cutaneous porphyria ISO RGD:731384 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital erythropoietic porphyria PMID:12200364|PMID:17148589|PMID:20301538|PMID:25741868 8884333 Gata1 GATA binding protein 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731384 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:11566888|PMID:12200364|PMID:14691578|PMID:15070711|PMID:15895080|PMID:15920471|PMID:16095949|PMID:16199547|PMID:16783379|PMID:17209061|PMID:17576681|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23704091|PMID:24255919|PMID:24453067|PMID:24728327|PMID:24766296|PMID:24952648|PMID:25741868|PMID:27993330|PMID:28492532|PMID:29146883|PMID:3164080|PMID:35030251|PMID:8628290|PMID:871527|PMID:9536098 8884333 Gata1 GATA binding protein 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:731384 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:12200364|PMID:14691578|PMID:15895080|PMID:16783379|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23704091|PMID:24453067|PMID:24766296|PMID:24952648|PMID:25741868|PMID:28492532|PMID:29146883|PMID:3164080|PMID:35030251|PMID:871527 8884333 Gata1 GATA binding protein 1 gene DOID:14250 Down syndrome ISO RGD:731384 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome | ClinVar Annotator: match by term: Down syndrome PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:25741868|PMID:28492532 8884333 Gata1 GATA binding protein 1 gene DOID:1470 major depressive disorder ISO RGD:731384 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsolateral prefrontal cortex PMID:22885997|REF_RGD_ID:6892958 8884333 Gata1 GATA binding protein 1 gene DOID:1588 thrombocytopenia ISO RGD:731384 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11418466|PMID:20301538|PMID:23278136|PMID:25741868|PMID:31064749|PMID:32581362 8884333 Gata1 GATA binding protein 1 gene DOID:1596 depressive disorder ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:22885997|REF_RGD_ID:6892958 8884333 Gata1 GATA binding protein 1 gene DOID:1596 depressive disorder ISO RGD:2663 D RGD:9068941 20200609 RGD mRNA:increased expression:prefrontal cortex PMID:22885997|REF_RGD_ID:6892958 8884333 Gata1 GATA binding protein 1 gene DOID:1596 depressive disorder ISO RGD:731384 D RGD:9068941 20210716 RGD PMID:25340772|REF_RGD_ID:11049534 8884333 Gata1 GATA binding protein 1 gene DOID:234 colon adenocarcinoma ISO RGD:731384 D RGD:9068941 20210716 RGD PMID:31069596|REF_RGD_ID:149735196 8884333 Gata1 GATA binding protein 1 gene DOID:2355 anemia ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:32581362 8884333 Gata1 GATA binding protein 1 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:731384 D RGD:9068941 20210716 RGD PMID:25230694|REF_RGD_ID:149735195 8884333 Gata1 GATA binding protein 1 gene DOID:4971 myelofibrosis ISO RGD:10621 D RGD:9068941 20220825 MouseDO OMIM:254450 8884333 Gata1 GATA binding protein 1 gene DOID:4971 myelofibrosis ISO RGD:731384 D RGD:9068941 20200609 RGD PMID:16127162|REF_RGD_ID:10450748 8884333 Gata1 GATA binding protein 1 gene DOID:630 genetic disease ISO RGD:731384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8884333 Gata1 GATA binding protein 1 gene DOID:8432 polycythemia ISO RGD:2663 D RGD:9068941 20210716 RGD mRNA,protein:increased expression:CD71 positive bone marrow cell PMID:27587253|REF_RGD_ID:149735329 8884333 Gata1 GATA binding protein 1 gene DOID:8692 myeloid leukemia ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:23719302|REF_RGD_ID:10450751 8884333 Gata1 GATA binding protein 1 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:731384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia PMID:15070711|PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 8884333 Gata1 GATA binding protein 1 gene DOID:9000557 Thrombocytopenia 1 ISO RGD:731384 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human) PMID:12200364|REF_RGD_ID:10450747 8884333 Gata1 GATA binding protein 1 gene DOID:9000784 Fibrosis ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:15665119|REF_RGD_ID:10450614 8884333 Gata1 GATA binding protein 1 gene DOID:9001937 Hemolytic Anemia due to Elevated Adenosine Deaminase ISO RGD:731384 D RGD:7240710 20220629 OMIM 8884333 Gata1 GATA binding protein 1 gene DOID:9001937 Hemolytic Anemia due to Elevated Adenosine Deaminase ISO RGD:731384 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Adenosine deaminase, elevated, hemolytic anemia due to PMID:28492532|PMID:3164080|PMID:35030251 8884333 Gata1 GATA binding protein 1 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:731384 D RGD:7240710 20180130 OMIM 8884333 Gata1 GATA binding protein 1 gene DOID:9003890 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia ISO RGD:731384 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia PMID:10700180|PMID:11418466|PMID:11809723|PMID:12200364|PMID:14691578|PMID:15895080|PMID:16783379|PMID:17148589|PMID:17209061|PMID:17881640|PMID:19172521|PMID:20301538|PMID:20729467|PMID:22706301|PMID:23278136|PMID:23704091|PMID:24453067|PMID:24766296|PMID:24952648|PMID:25741868|PMID:28492532|PMID:29146883|PMID:31064749|PMID:3164080|PMID:32581362|PMID:35030251|PMID:36231035|PMID:871527 8884333 Gata1 GATA binding protein 1 gene DOID:9005785 Altitude Sickness ISO RGD:731384 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:bone marrow, mononuclear cell PMID:18078130|REF_RGD_ID:10450750 8884333 Gata1 GATA binding protein 1 gene DOID:9006561 Familial Myelofibrosis ISO RGD:10621 D RGD:9068941 20200609 RGD PMID:12149188|REF_RGD_ID:10450737 8884333 Gata1 GATA binding protein 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:731384 D RGD:9068941 20200609 RGD PMID:7579412|REF_RGD_ID:10450754 8884333 Gata1 GATA binding protein 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:731384 D RGD:9068941 20210716 RGD PMID:31069596|REF_RGD_ID:149735196 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:0050439 Usher syndrome ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:3652 Leigh disease ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25130867|PMID:25741868|PMID:28492532 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:5119 ovarian cyst ISO RGD:1604336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:574 peripheral nervous system disease ISO RGD:1604336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25130867|PMID:8409271 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604336 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29410512 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:83 cataract ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25130867|PMID:25741868|PMID:8409271 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:870 neuropathy ISO RGD:1604336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25130867|PMID:8409271 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25130867|PMID:25741868|PMID:28492532 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9004880 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA ISO RGD:1604336 D RGD:7240710 20180130 OMIM 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9004880 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia PMID:25130867|PMID:25741868|PMID:28328135|PMID:28492532|PMID:30041933|PMID:30419932|PMID:8409271 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9006949 Martsolf Syndrome ISO RGD:1604336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 8884349 Iars2 isoleucyl-tRNA synthetase 2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8884376 Mcu mitochondrial calcium uniporter gene DOID:630 genetic disease ISO RGD:1343502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884389 Siva1 SIVA1 apoptosis inducing factor gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1603317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8884389 Siva1 SIVA1 apoptosis inducing factor gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1603317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8884389 Siva1 SIVA1 apoptosis inducing factor gene DOID:630 genetic disease ISO RGD:1603317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884389 Siva1 SIVA1 apoptosis inducing factor gene DOID:9000220 Coxsackievirus Infections ISO RGD:1603317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16683188 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1314912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:1059 intellectual disability ISO RGD:1314912 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:10952 nephritis ISO RGD:1306345 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in humans PMID:11771960|REF_RGD_ID:10755697 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:10952 nephritis ISO RGD:1314912 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in humans PMID:11771960|REF_RGD_ID:10755697 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:10952 nephritis ISO RGD:1314913 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in humans PMID:11771960|REF_RGD_ID:10755697 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:576 proteinuria ISO RGD:1306345 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in a mouse model PMID:16418806|REF_RGD_ID:10755721 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:576 proteinuria ISO RGD:1314912 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in a mouse model PMID:16418806|REF_RGD_ID:10755721 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:576 proteinuria ISO RGD:1314913 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic in a mouse model PMID:16418806|REF_RGD_ID:10755721 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:630 genetic disease ISO RGD:1314912 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:65 connective tissue disease ISO RGD:1314912 D RGD:9068941 20200609 RGD PMID:2477448|REF_RGD_ID:10755695 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1306345 D RGD:9068941 20200609 RGD mouse model PMID:12571858|REF_RGD_ID:10755713 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1314912 D RGD:9068941 20200609 RGD mouse model PMID:12571858|REF_RGD_ID:10755713 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1314913 D RGD:9068941 20200609 RGD mouse model PMID:12571858|REF_RGD_ID:10755713 8884400 Snrpd1 small nuclear ribonucleoprotein D1 polypeptide gene DOID:9261 nasopharynx carcinoma ISO RGD:1314912 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:24080422|REF_RGD_ID:10755709 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0050691 branchiooculofacial syndrome ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome | ClinVar Annotator: match by term: Branchiooculofacial syndrome PMID:10464653|PMID:15146463|PMID:18220287|PMID:19951260|PMID:21280147|PMID:24033266|PMID:24489909|PMID:25741868|PMID:28492532|PMID:28832562|PMID:30655312 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0060232 branchiootic syndrome ISO RGD:1317054 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Branchiootic dysplasia PMID:10464653|PMID:10991693|PMID:11683347|PMID:15146463|PMID:18220287|PMID:19951260|PMID:21280147|PMID:23506628|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25741868|PMID:26489027|PMID:28492532|PMID:28832562|PMID:29966037|PMID:30655312|PMID:31049720|PMID:9361030 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anterior segment anomalies | ClinVar Annotator: match by term: Anterior segment anomalies and cataract PMID:10655545 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0080204 renal hypoplasia ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:28492532 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:10991693|PMID:24033266|PMID:25741868|PMID:31049720 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:1317054 D RGD:7240710 20191106 OMIM 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:0111423 branchiootorenal syndrome 1 ISO RGD:1317054 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Branchiootorenal syndrome 1 PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:15146463|PMID:15802522|PMID:16691597|PMID:16797546|PMID:17576681|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19206155|PMID:19951260|PMID:20848651|PMID:21280147|PMID:22340499|PMID:22382802|PMID:23435380|PMID:23506628|PMID:23967202|PMID:24033266|PMID:24489909|PMID:25107291|PMID:25741868|PMID:26969326|PMID:27657687|PMID:2773990|PMID:28492532|PMID:28832562|PMID:29500469|PMID:30655312|PMID:30937553|PMID:31049720|PMID:33532864|PMID:35982127|PMID:5365063|PMID:8566479|PMID:9020840|PMID:9361030|PMID:9536098|PMID:9603436 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:10283 prostate cancer ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:10991693|PMID:24033266|PMID:25741868|PMID:31049720 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:14702 branchiootorenal syndrome ISO RGD:1317054 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Branchiootorenal Spectrum Disorders | ClinVar Annotator: match by term: Branchiootorenal syndrome | ClinVar Annotator: match by term: Branchiootorenal syndrome with cataract | ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:10429368|PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:12404110|PMID:15146463|PMID:15802522|PMID:16199547|PMID:16441263|PMID:16491411|PMID:16691597|PMID:16797546|PMID:17364338|PMID:17576681|PMID:17637804|PMID:18065799|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19206155|PMID:19951260|PMID:20848651|PMID:21280147|PMID:22340499|PMID:22382802|PMID:22447252|PMID:23435380|PMID:23508780|PMID:23552953|PMID:23840632|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25107291|PMID:25741868|PMID:26310487|PMID:26467025|PMID:26489027|PMID:26667035|PMID:26969326|PMID:27657687|PMID:2773990|PMID:28289595|PMID:28492532|PMID:28832562|PMID:29500469|PMID:29966037|PMID:30268946|PMID:30311386|PMID:30655312|PMID:30937553|PMID:31427586|PMID:33240318|PMID:34031707|PMID:34160378|PMID:35046468|PMID:35982127|PMID:9020840|PMID:9361030|PMID:9536098|PMID:9603436 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:14766 renal agenesis ISO RGD:1317054 D RGD:8554872 20220531 ClinVar ClinVar Annotator: match by term: Bilateral renal agenesis PMID:25741868|PMID:35005812 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:1682 congenital heart disease ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15493068 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:630 genetic disease ISO RGD:1317054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10464653|PMID:16691597|PMID:18177466|PMID:18220287|PMID:21280147|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29500469|PMID:35982127|PMID:9603436 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:699 mitochondrial myopathy ISO RGD:1317054 D RGD:9068941 20200609 RGD mRNA:increased expression:muscle: PMID:23107834|REF_RGD_ID:8694159 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:83 cataract ISO RGD:1317054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:15146463|PMID:18220287|PMID:24033266|PMID:24123792|PMID:24429398|PMID:25741868|PMID:26489027|PMID:28492532|PMID:29966037|PMID:9361030 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9000096 Lung Agenesis ISO RGD:1584849 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung epithelium: PMID:24528972|REF_RGD_ID:8554873 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:1317054 D RGD:7240710 20200930 OMIM 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002083 Branchiootic Syndrome 1 ISO RGD:1317054 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: BO syndrome 1 | ClinVar Annotator: match by term: Branchiootic syndrome 1 PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:12701758|PMID:15146463|PMID:15493068|PMID:15802522|PMID:16199547|PMID:16691597|PMID:16797546|PMID:17576681|PMID:18177466|PMID:18220287|PMID:18678597|PMID:19951260|PMID:21280147|PMID:22340499|PMID:22447252|PMID:23435380|PMID:23506628|PMID:23552953|PMID:23840632|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25107291|PMID:25741868|PMID:26467025|PMID:26489027|PMID:26667035|PMID:26969326|PMID:27657687|PMID:28492532|PMID:28832562|PMID:29966037|PMID:30311386|PMID:30655312|PMID:31049720|PMID:33240318|PMID:9359046|PMID:9361030|PMID:9536098 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002601 Otofaciocervical Syndrome 1 ISO RGD:1317054 D RGD:7240710 20180130 OMIM 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002601 Otofaciocervical Syndrome 1 ISO RGD:1317054 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Otofaciocervical syndrome 1 PMID:10464653|PMID:10655545|PMID:10991693|PMID:11683347|PMID:11734542|PMID:12701758|PMID:15146463|PMID:15802522|PMID:16199547|PMID:16441263|PMID:16797546|PMID:18220287|PMID:18678597|PMID:19951260|PMID:22340499|PMID:22447252|PMID:23435380|PMID:23506628|PMID:23552953|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24429398|PMID:24489909|PMID:25741868|PMID:26310487|PMID:26467025|PMID:26489027|PMID:26667035|PMID:28492532|PMID:29966037|PMID:30311386|PMID:31049720|PMID:9361030 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1317101 D RGD:9068941 20221103 RGD PMID:21364285|REF_RGD_ID:11561941 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9003483 Conductive Hearing Loss ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10471511 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9004538 Hearing Loss ISO RGD:1317054 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:23552953|PMID:24033266|PMID:25741868|PMID:26667035|PMID:28492532|PMID:30311386 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10471511 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9006596 Cayler Cardiofacial Syndrome ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15493068 8884411 Eya1 EYA transcriptional coactivator and phosphatase 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10471511 8884434 Retn resistin gene DOID:0060180 colitis treatment ISO RGD:628781 D RGD:9068941 20200609 RGD PMID:22630819|REF_RGD_ID:7207222 8884434 Retn resistin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1349693 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 8884434 Retn resistin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:628781 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20560816|REF_RGD_ID:7207249 8884434 Retn resistin gene DOID:0080490 mucolipidosis type IV ISO RGD:1349693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8884434 Retn resistin gene DOID:0080600 COVID-19 ISO RGD:1349693 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8884434 Retn resistin gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1349693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8884434 Retn resistin gene DOID:10763 hypertension ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:*62A>G (human) PMID:12629116|REF_RGD_ID:1624968 8884434 Retn resistin gene DOID:11054 urinary bladder cancer ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18373357|REF_RGD_ID:7207154 8884434 Retn resistin gene DOID:114 heart disease ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;protein:increased expression:serum PMID:15670203|REF_RGD_ID:7207157 8884434 Retn resistin gene DOID:11400 pyelonephritis ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20178460|REF_RGD_ID:7207160 8884434 Retn resistin gene DOID:11714 gestational diabetes ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19408175|REF_RGD_ID:2307186 8884434 Retn resistin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA, protein:SNP, increased expression:promoter, serum:-420G>C (rs1862513) (human) PMID:20171599|REF_RGD_ID:7207251 8884434 Retn resistin gene DOID:4676 uremia ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue PMID:23058473|REF_RGD_ID:7207071 8884434 Retn resistin gene DOID:5844 myocardial infarction ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18997620|REF_RGD_ID:7207152 8884434 Retn resistin gene DOID:6000 congestive heart failure ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8884434 Retn resistin gene DOID:6000 congestive heart failure ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Coronary Disease PMID:22240747|REF_RGD_ID:7207075 8884434 Retn resistin gene DOID:630 genetic disease ISO RGD:1349693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884434 Retn resistin gene DOID:783 end stage renal disease ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 8884434 Retn resistin gene DOID:783 end stage renal disease severity ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22421264|REF_RGD_ID:7207074 8884434 Retn resistin gene DOID:784 chronic kidney disease ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22421264 8884434 Retn resistin gene DOID:8947 diabetic retinopathy ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17303077|REF_RGD_ID:7207162 8884434 Retn resistin gene DOID:9000528 Coronary Disease ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:17175295|REF_RGD_ID:7207156 8884434 Retn resistin gene DOID:9001542 Albuminuria ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:blood PMID:20203628|REF_RGD_ID:7207150 8884434 Retn resistin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349693 D RGD:9068941 20200609 RGD PMID:21425555|REF_RGD_ID:7207159 8884434 Retn resistin gene DOID:9004484 Sepsis ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19545363|REF_RGD_ID:7207151 8884434 Retn resistin gene DOID:9006359 Vitamin D Deficiency ISO RGD:628781 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21994008|REF_RGD_ID:7207230 8884434 Retn resistin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18328350 8884434 Retn resistin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-420C>G (human) PMID:17598818|REF_RGD_ID:7207155 8884434 Retn resistin gene DOID:9007096 Stroke ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:promoter:-420G>C (rs1862513) (human) PMID:19269054|REF_RGD_ID:2313497 8884434 Retn resistin gene DOID:9007692 Insulin Resistance ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16493877 8884434 Retn resistin gene DOID:9007692 Insulin Resistance ISO RGD:1349693 D RGD:9068941 20200609 RGD PMID:18789551|REF_RGD_ID:2313499 8884434 Retn resistin gene DOID:9074 systemic lupus erythematosus ISO RGD:1349693 D RGD:9068941 20200609 RGD PMID:21885493|REF_RGD_ID:7207148 8884434 Retn resistin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO PMID:11558907|PMID:12629116 8884434 Retn resistin gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-394C>G, -420G>C (rs1862513) (human) PMID:19381781|REF_RGD_ID:2313495 8884434 Retn resistin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1349693 D RGD:7240710 20230505 OMIM 8884434 Retn resistin gene DOID:9743 diabetic neuropathy ISO RGD:1349693 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17919381|REF_RGD_ID:7207161 8884434 Retn resistin gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349693 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15523596|REF_RGD_ID:7207163 8884434 Retn resistin gene DOID:9970 obesity ISO RGD:1349693 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-420C>G (human) PMID:17598818|REF_RGD_ID:7207155 8884434 Retn resistin gene DOID:9970 obesity ISO RGD:1349693 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:subcutaneous adipose tissue, serum PMID:22816026|REF_RGD_ID:7207072 8884434 Retn resistin gene DOID:9970 obesity ISO RGD:730829 D RGD:9068941 20200609 RGD PMID:11201732|REF_RGD_ID:7207158 8884434 Retn resistin gene DOID:9976 heroin dependence ISO RGD:1349693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 8884441 Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8884441 Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:12177 common variable immunodeficiency ISO RGD:1350747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8884441 Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350747 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8884441 Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8884441 Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1350747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8884441 Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 gene DOID:630 genetic disease ISO RGD:1350747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884462 Ms4a10 membrane spanning 4-domains A10 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1316696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8884462 Ms4a10 membrane spanning 4-domains A10 gene DOID:1059 intellectual disability ISO RGD:1316696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8884462 Ms4a10 membrane spanning 4-domains A10 gene DOID:630 genetic disease ISO RGD:1316696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884473 Lcmt1 leucine carboxyl methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1351587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884473 Lcmt1 leucine carboxyl methyltransferase 1 gene DOID:9004994 Embryo Loss ISO RGD:1351587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17724024 8884513 Pskh2 protein serine kinase H2 gene DOID:630 genetic disease ISO RGD:1345682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:20890277|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0050451 Brugada syndrome ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0050650 familial atrial fibrillation ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:24033266|PMID:25741868|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0050700 cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12166651|PMID:16563363|PMID:17245405|PMID:17576681|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23103869|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:24503780|PMID:25333069|PMID:25741868|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29030401|PMID:9536098 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0050700 cardiomyopathy ISO RGD:735726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12166651|PMID:16563363|PMID:17245405|PMID:17576681|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23103869|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:24503780|PMID:25333069|PMID:25741868|PMID:25979592|PMID:26498160|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28087566|PMID:28166811|PMID:28492532|PMID:29030401|PMID:32746448|PMID:9536098 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:735726 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:21344641|PMID:22610116|PMID:23307537|PMID:25590979|PMID:25741868|PMID:27247394|PMID:27316244|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:735726 D RGD:7240710 20180130 OMIM 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:735726 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:10398267|PMID:15034580|PMID:16199547|PMID:16835932|PMID:17576681|PMID:18414213|PMID:20474083|PMID:20890277|PMID:21344641|PMID:22608503|PMID:22610116|PMID:23307537|PMID:23861362|PMID:24033266|PMID:24352916|PMID:24439875|PMID:24503780|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25790160|PMID:25979592|PMID:26112015|PMID:26498160|PMID:26656175|PMID:26871653|PMID:26938784|PMID:27247394|PMID:27316244|PMID:27532257|PMID:27707468|PMID:28492532|PMID:29016939|PMID:30177324|PMID:30662450|PMID:30821013|PMID:30847666|PMID:31130284|PMID:31828977|PMID:31907964|PMID:31983221|PMID:32622958|PMID:32746448|PMID:33500567|PMID:34076677|PMID:9536098 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735726 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0080855 Parkinsonism ISO RGD:3787 D RGD:9068941 20200609 RGD PMID:15857625|REF_RGD_ID:1598645 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:24439875|PMID:25741868|PMID:27532257|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735726 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28074886|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:735726 D RGD:7240710 20180130 OMIM 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:735726 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:12166651|PMID:15034580|PMID:1575858|PMID:16199547|PMID:16563363|PMID:16835932|PMID:17245405|PMID:17576681|PMID:18239147|PMID:19763152|PMID:20307669|PMID:20474083|PMID:20890277|PMID:21344641|PMID:21846889|PMID:22406018|PMID:22608503|PMID:22610116|PMID:23103869|PMID:23307537|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24352916|PMID:24439875|PMID:24503780|PMID:25326635|PMID:25333069|PMID:25341504|PMID:25590979|PMID:25741868|PMID:25790160|PMID:25979592|PMID:26112015|PMID:26498160|PMID:26636822|PMID:26656175|PMID:26764160|PMID:26871653|PMID:27101133|PMID:27247394|PMID:27316244|PMID:27532257|PMID:27707468|PMID:28074886|PMID:28087566|PMID:28166811|PMID:28492532|PMID:28798025|PMID:29016939|PMID:29030401|PMID:29275331|PMID:30029678|PMID:30177324|PMID:30269836|PMID:30662066|PMID:30662450|PMID:30821013|PMID:30847666|PMID:30878466|PMID:30975432|PMID:31130284|PMID:31575858|PMID:31828977|PMID:31907964|PMID:31983221|PMID:32344918|PMID:32622958|PMID:32746448|PMID:32969603|PMID:33500567|PMID:34076677|PMID:35653365|PMID:9536098 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:10763 hypertension ISO RGD:3787 D RGD:9068941 20200609 RGD PMID:15964031|REF_RGD_ID:1598644 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:10763 hypertension ISO RGD:3787 D RGD:9068941 20200609 RGD protein:decreased expression:aorta PMID:18471810|REF_RGD_ID:2301909 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:11446 sciatic neuropathy ISO RGD:3787 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21907492|REF_RGD_ID:12791994 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17245405|PMID:25741868|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12166651|PMID:20474083|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735726 D RGD:9068941 20200609 RGD PMID:15034580|REF_RGD_ID:1300328 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:13832 patent ductus arteriosus ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:2843 long QT syndrome ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:289 endometriosis ISO RGD:735726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:3007 breast ductal carcinoma ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:5844 myocardial infarction ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction PMID:16563363|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:25333069|PMID:25741868|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:630 genetic disease ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31828977 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9000176 INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME ISO RGD:735726 D RGD:7240710 20220323 OMIM 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9000176 INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME ISO RGD:735726 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome PMID:15034580|PMID:1575858|PMID:17576681|PMID:24033266|PMID:24439875|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29016939|PMID:30177324|PMID:30662450|PMID:30821013|PMID:30975432|PMID:31130284|PMID:31575858|PMID:31983221|PMID:32622958|PMID:33500567|PMID:34076677|PMID:35653365|PMID:9536098 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9000184 Ventricular Fibrillation ISO RGD:3787 D RGD:9068941 20200609 RGD PMID:15115899|REF_RGD_ID:1598647 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:735726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9002065 Familial Atrial Fibrillation 12 ISO RGD:735726 D RGD:7240710 20180130 OMIM 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9002065 Familial Atrial Fibrillation 12 ISO RGD:735726 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 12 PMID:15034580|PMID:17245405|PMID:17576681|PMID:24033266|PMID:24439875|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29016939|PMID:30177324|PMID:30662450|PMID:30821013|PMID:31130284|PMID:31983221|PMID:32622958|PMID:33500567|PMID:34076677|PMID:9536098 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9003163 Heart Block ISO RGD:735726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9003816 Macrocephaly ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9005077 Joint Instability ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9005141 Ventricular Tachycardia ISO RGD:735726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:16563363|PMID:18239147|PMID:20474083|PMID:21846889|PMID:23739550|PMID:23861362|PMID:24033266|PMID:24439875|PMID:25333069|PMID:25741868|PMID:26636822|PMID:26656175|PMID:26764160|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9005616 Micrognathism ISO RGD:735726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:22608503|PMID:22610116|PMID:23307537|PMID:25741868|PMID:25790160|PMID:26656175|PMID:26871653|PMID:28492532 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3787 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:22257425|REF_RGD_ID:12792003 8884522 Abcc9 ATP binding cassette subfamily C member 9 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 8884576 A1cf APOBEC1 complementation factor gene DOID:13189 gout ISO RGD:733348 D RGD:9068941 20200609 RGD PMID:28252667|REF_RGD_ID:13831120 8884576 A1cf APOBEC1 complementation factor gene DOID:13189 gout ISO RGD:733348 D RGD:9068941 20200609 RGD DNA:SNP: :rs10821905 (human) PMID:28679452|REF_RGD_ID:13831119 8884576 A1cf APOBEC1 complementation factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8884576 A1cf APOBEC1 complementation factor gene DOID:630 genetic disease ISO RGD:733348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884607 Ap5s1 adaptor related protein complex 5 subunit sigma 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1345016 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8884607 Ap5s1 adaptor related protein complex 5 subunit sigma 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8884607 Ap5s1 adaptor related protein complex 5 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1345016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884607 Ap5s1 adaptor related protein complex 5 subunit sigma 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1345016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8884616 Acsbg1 acyl-CoA synthetase bubblegum family member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:733957 D RGD:9068941 20200609 RGD PMID:15800013|REF_RGD_ID:11065111 8884616 Acsbg1 acyl-CoA synthetase bubblegum family member 1 gene DOID:2717 Bloom syndrome ISO RGD:733957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8884616 Acsbg1 acyl-CoA synthetase bubblegum family member 1 gene DOID:3213 demyelinating disease ISO RGD:1557638 D RGD:9068941 20200609 RGD PMID:17722065|REF_RGD_ID:13831132 8884616 Acsbg1 acyl-CoA synthetase bubblegum family member 1 gene DOID:630 genetic disease ISO RGD:733957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884616 Acsbg1 acyl-CoA synthetase bubblegum family member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733957 D RGD:9068941 20200609 RGD associated with pheochromocytoma PMID:29067245|REF_RGD_ID:13831131 8884616 Acsbg1 acyl-CoA synthetase bubblegum family member 1 gene DOID:9256 colorectal cancer ISO RGD:733957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8884637 Il15ra interleukin 15 receptor subunit alpha gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8884637 Il15ra interleukin 15 receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:1313009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8884637 Il15ra interleukin 15 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1313009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884637 Il15ra interleukin 15 receptor subunit alpha gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313009 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8884637 Il15ra interleukin 15 receptor subunit alpha gene DOID:9001488 Human Influenza ISO RGD:1313010 D RGD:9068941 20200609 RGD PMID:21098221|REF_RGD_ID:4994196 8884637 Il15ra interleukin 15 receptor subunit alpha gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1313010 D RGD:9068941 20200609 RGD PMID:17611121|REF_RGD_ID:5000755 8884648 Simc1 SUMO interacting motifs containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8884648 Simc1 SUMO interacting motifs containing 1 gene DOID:14748 Sotos syndrome ISO RGD:1604161 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8884648 Simc1 SUMO interacting motifs containing 1 gene DOID:630 genetic disease ISO RGD:1604161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884664 Tchh trichohyalin gene DOID:0111940 immunodeficiency 42 ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8884664 Tchh trichohyalin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8884664 Tchh trichohyalin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8884664 Tchh trichohyalin gene DOID:1540 parathyroid carcinoma ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8884664 Tchh trichohyalin gene DOID:5812 MHC class II deficiency ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8884664 Tchh trichohyalin gene DOID:630 genetic disease ISO RGD:1320079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884664 Tchh trichohyalin gene DOID:9003784 Uncombable Hair Syndrome 3 ISO RGD:1320079 D RGD:7240710 20190315 OMIM 8884664 Tchh trichohyalin gene DOID:9003784 Uncombable Hair Syndrome 3 ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uncombable hair syndrome 3 PMID:25741868|PMID:27866708 8884664 Tchh trichohyalin gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:1320079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8884664 Tchh trichohyalin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8884673 Tgs1 trimethylguanosine synthase 1 gene DOID:630 genetic disease ISO RGD:1320573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884691 Gpr173 G protein-coupled receptor 173 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8884691 Gpr173 G protein-coupled receptor 173 gene DOID:12849 autistic disorder ISO RGD:1347737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8884691 Gpr173 G protein-coupled receptor 173 gene DOID:630 genetic disease ISO RGD:1347737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884705 Tfpi tissue factor pathway inhibitor gene DOID:0050156 idiopathic pulmonary fibrosis severity ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar lavage,epithelial cell: PMID:10946084|REF_RGD_ID:11060143 8884705 Tfpi tissue factor pathway inhibitor gene DOID:0060224 atrial fibrillation ISO RGD:61914 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:endocardium: PMID:14610015|REF_RGD_ID:1299121 8884705 Tfpi tissue factor pathway inhibitor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:19874310|REF_RGD_ID:11341694 8884705 Tfpi tissue factor pathway inhibitor gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:20037809|REF_RGD_ID:11340209 8884705 Tfpi tissue factor pathway inhibitor gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19012190|REF_RGD_ID:11340215 8884705 Tfpi tissue factor pathway inhibitor gene DOID:0111902 thrombophilia due to activated protein C resistance ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11703344 8884705 Tfpi tissue factor pathway inhibitor gene DOID:10591 pre-eclampsia ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10078579|REF_RGD_ID:11060132 8884705 Tfpi tissue factor pathway inhibitor gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740478 8884705 Tfpi tissue factor pathway inhibitor gene DOID:10772 thrombotic thrombocytopenic purpura treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:7740478|REF_RGD_ID:11340214 8884705 Tfpi tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:11074537|REF_RGD_ID:11060128 8884705 Tfpi tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:8914465|REF_RGD_ID:11060253 8884705 Tfpi tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation ISO RGD:61914 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, plasma PMID:9426395|REF_RGD_ID:11060265 8884705 Tfpi tissue factor pathway inhibitor gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:8292719|PMID:8929465|REF_RGD_ID:11062067|REF_RGD_ID:11341674 8884705 Tfpi tissue factor pathway inhibitor gene DOID:1168 familial hyperlipidemia ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:8914465|REF_RGD_ID:11060253 8884705 Tfpi tissue factor pathway inhibitor gene DOID:1184 nephrotic syndrome ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22319062|REF_RGD_ID:11341665 8884705 Tfpi tissue factor pathway inhibitor gene DOID:12134 factor VIII deficiency ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:24263002|REF_RGD_ID:11060141 8884705 Tfpi tissue factor pathway inhibitor gene DOID:12134 factor VIII deficiency ISO RGD:62207 D RGD:9068941 20200609 RGD PMID:22355108|REF_RGD_ID:11060147 8884705 Tfpi tissue factor pathway inhibitor gene DOID:12134 factor VIII deficiency treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:24687919|REF_RGD_ID:11060256 8884705 Tfpi tissue factor pathway inhibitor gene DOID:1240 leukemia treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:18549615|REF_RGD_ID:11060254 8884705 Tfpi tissue factor pathway inhibitor gene DOID:1240 leukemia treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:12206017|REF_RGD_ID:11060255 8884705 Tfpi tissue factor pathway inhibitor gene DOID:14115 toxic shock syndrome treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:11776329|REF_RGD_ID:11062085 8884705 Tfpi tissue factor pathway inhibitor gene DOID:14566 disease of cellular proliferation ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:11864704|REF_RGD_ID:11060133 8884705 Tfpi tissue factor pathway inhibitor gene DOID:2216 factor V deficiency ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:18695002|REF_RGD_ID:11060145 8884705 Tfpi tissue factor pathway inhibitor gene DOID:224 transient cerebral ischemia treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:18067952|REF_RGD_ID:11062087 8884705 Tfpi tissue factor pathway inhibitor gene DOID:2451 protein S deficiency ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:23079294|REF_RGD_ID:11060129 8884705 Tfpi tissue factor pathway inhibitor gene DOID:2451 protein S deficiency ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:20002538|REF_RGD_ID:11060140 8884705 Tfpi tissue factor pathway inhibitor gene DOID:3770 pulmonary fibrosis treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:16338226|REF_RGD_ID:11062084 8884705 Tfpi tissue factor pathway inhibitor gene DOID:5082 liver cirrhosis ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:23841464|REF_RGD_ID:11060135 8884705 Tfpi tissue factor pathway inhibitor gene DOID:5425 ovarian hyperstimulation syndrome severity ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12695751|REF_RGD_ID:11340210 8884705 Tfpi tissue factor pathway inhibitor gene DOID:5844 myocardial infarction ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:14656922|PMID:15630488|REF_RGD_ID:11060131|REF_RGD_ID:11060139 8884705 Tfpi tissue factor pathway inhibitor gene DOID:5844 myocardial infarction treatment ISO RGD:61914 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:21229253|REF_RGD_ID:11062083 8884705 Tfpi tissue factor pathway inhibitor gene DOID:630 genetic disease ISO RGD:1344546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884705 Tfpi tissue factor pathway inhibitor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9001268 Embolism and Thrombosis ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:15467899|REF_RGD_ID:11341677 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:61914 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta: PMID:26104991|REF_RGD_ID:11062065 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9001916 Fetal Death ISO RGD:62207 D RGD:9068941 20200609 RGD associated with Hemorrhage; PMID:9242522|REF_RGD_ID:11060259 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:9921794|REF_RGD_ID:11062061 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9002514 Neointima ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:10521388|REF_RGD_ID:11060274 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9002514 Neointima treatment ISO RGD:61914 D RGD:9068941 20200609 RGD PMID:22140576|REF_RGD_ID:11341672 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9002669 Hypoxia ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23727623 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9003049 Femur Head Necrosis ISO RGD:61914 D RGD:9068941 20200609 RGD protein:increased expression:femur head: PMID:23063054|REF_RGD_ID:11062059 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:1344546 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:18695356|REF_RGD_ID:11060260 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9003505 Venous Thromboembolism ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:14691572|REF_RGD_ID:11060266 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18480984 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:12560220|REF_RGD_ID:11060137 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18600090|REF_RGD_ID:11060130 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9003871 Venous Thrombosis ISO RGD:62207 D RGD:9068941 20200609 RGD PMID:17973652|REF_RGD_ID:11060257 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9004484 Sepsis ISO RGD:61914 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:15497025|REF_RGD_ID:2313648 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9005700 Airway Obstruction ISO RGD:1344546 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23727623 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9005700 Airway Obstruction treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:23727623|REF_RGD_ID:11062088 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9005930 Endotoxemia treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:17537762|REF_RGD_ID:11062086 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1344546 D RGD:9068941 20200609 RGD PMID:11796005|REF_RGD_ID:11062062 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9007730 Burns ISO RGD:61914 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:15497025|REF_RGD_ID:2313648 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9008691 Liver Injury treatment ISO RGD:1344546 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:10216139|REF_RGD_ID:11341667 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9074 systemic lupus erythematosus ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:11709459|REF_RGD_ID:11060258 8884705 Tfpi tissue factor pathway inhibitor gene DOID:9351 diabetes mellitus ISO RGD:1344546 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:8914465|REF_RGD_ID:11060253 8884717 Fip1l1 factor interacting with PAPOLA and CPSF1 gene DOID:6000 congestive heart failure ISO RGD:1319628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28347583 8884717 Fip1l1 factor interacting with PAPOLA and CPSF1 gene DOID:630 genetic disease ISO RGD:1319628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884717 Fip1l1 factor interacting with PAPOLA and CPSF1 gene DOID:9001371 Eosinophilia ISO RGD:1319628 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:23114151|REF_RGD_ID:11075088 8884717 Fip1l1 factor interacting with PAPOLA and CPSF1 gene DOID:9001997 Pdgfra-Associated Chronic Eosinophilic Leukemia ISO RGD:1319628 D RGD:9068941 20200609 RGD DNA:gene fusion PMID:22806436|REF_RGD_ID:11075089 8884717 Fip1l1 factor interacting with PAPOLA and CPSF1 gene DOID:999 hypereosinophilic syndrome ISO RGD:1319628 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:16778211|PMID:28347583|PMID:31036733 8884753 S100a4 S100 calcium binding protein A4 gene DOID:0050902 medulloblastoma ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17579622 8884753 S100a4 S100 calcium binding protein A4 gene DOID:0111940 immunodeficiency 42 ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8884753 S100a4 S100 calcium binding protein A4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8884753 S100a4 S100 calcium binding protein A4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8884753 S100a4 S100 calcium binding protein A4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8884753 S100a4 S100 calcium binding protein A4 gene DOID:11664 nephrosclerosis ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 8884753 S100a4 S100 calcium binding protein A4 gene DOID:13100 intracranial vasospasm ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12186470 8884753 S100a4 S100 calcium binding protein A4 gene DOID:1540 parathyroid carcinoma ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8884753 S100a4 S100 calcium binding protein A4 gene DOID:1909 melanoma ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 8884753 S100a4 S100 calcium binding protein A4 gene DOID:326 ischemia ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 8884753 S100a4 S100 calcium binding protein A4 gene DOID:5812 MHC class II deficiency ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8884753 S100a4 S100 calcium binding protein A4 gene DOID:630 genetic disease ISO RGD:69040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884753 S100a4 S100 calcium binding protein A4 gene DOID:8398 osteoarthritis ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16948116 8884753 S100a4 S100 calcium binding protein A4 gene DOID:9000058 Keloid ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8884753 S100a4 S100 calcium binding protein A4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69040 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:21636539|PMID:21685359|PMID:36008464 8884753 S100a4 S100 calcium binding protein A4 gene DOID:9002928 Colonic Neoplasms ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685359 8884753 S100a4 S100 calcium binding protein A4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:69040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 8884753 S100a4 S100 calcium binding protein A4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8884763 Etv6 ETS variant transcription factor 6 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1345405 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:35053500 8884763 Etv6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:9068941 20200609 RGD PMID:12203785|REF_RGD_ID:1581019 8884763 Etv6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:9171997|REF_RGD_ID:10450601 8884763 Etv6 ETS variant transcription factor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:18476590|REF_RGD_ID:10450605 8884763 Etv6 ETS variant transcription factor 6 gene DOID:0070004 myeloid neoplasm ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9044825|REF_RGD_ID:10450608 8884763 Etv6 ETS variant transcription factor 6 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1345405 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8884763 Etv6 ETS variant transcription factor 6 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1345405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15217836|PMID:24413735|PMID:25807284 8884763 Etv6 ETS variant transcription factor 6 gene DOID:1037 lymphoid leukemia ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9539781|REF_RGD_ID:10450724 8884763 Etv6 ETS variant transcription factor 6 gene DOID:1240 leukemia ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9326218|REF_RGD_ID:10450609 8884763 Etv6 ETS variant transcription factor 6 gene DOID:1588 thrombocytopenia ISO RGD:1345405 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25581430|PMID:25741868|PMID:26522332|PMID:27365488|PMID:28492532|PMID:31064749|PMID:32581362|PMID:32693409|PMID:35586967 8884763 Etv6 ETS variant transcription factor 6 gene DOID:2213 hemorrhagic disease ISO RGD:1345405 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868 8884763 Etv6 ETS variant transcription factor 6 gene DOID:2226 myeloproliferative neoplasm ISO RGD:1345405 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:12181402|REF_RGD_ID:10450606 8884763 Etv6 ETS variant transcription factor 6 gene DOID:303 substance-related disorder ISO RGD:1345405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8884763 Etv6 ETS variant transcription factor 6 gene DOID:630 genetic disease ISO RGD:1345405 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25581430|PMID:25741868|PMID:26102509|PMID:26522332|PMID:27365488|PMID:28492532|PMID:30908598|PMID:31064749|PMID:32693409|PMID:32841218|PMID:35537115 8884763 Etv6 ETS variant transcription factor 6 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8884763 Etv6 ETS variant transcription factor 6 gene DOID:9001067 Familial Macrocytosis ISO RGD:1345405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25807284 8884763 Etv6 ETS variant transcription factor 6 gene DOID:9005805 Thrombocytopenia 5 ISO RGD:1345405 D RGD:7240710 20180130 OMIM 8884763 Etv6 ETS variant transcription factor 6 gene DOID:9005805 Thrombocytopenia 5 ISO RGD:1345405 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 5 PMID:15806161|PMID:17988997|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27666367|PMID:27895058|PMID:28492532|PMID:29365323|PMID:30908598|PMID:31064749|PMID:31248877|PMID:31704777|PMID:32693409|PMID:32841218|PMID:33179473|PMID:33226740|PMID:33768492|PMID:34355501|PMID:35537115|PMID:35586967|PMID:9694803 8884763 Etv6 ETS variant transcription factor 6 gene DOID:9006532 Hematologic Neoplasms ISO RGD:1345405 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27666367|PMID:27895058|PMID:28492532|PMID:30908598|PMID:31064749|PMID:31248877|PMID:31704777|PMID:32693409|PMID:32841218|PMID:33226740|PMID:33768492|PMID:35537115|PMID:9694803 8884763 Etv6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:7240710 20180130 OMIM 8884763 Etv6 ETS variant transcription factor 6 gene DOID:9119 acute myeloid leukemia ISO RGD:1345405 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: ETV6-related condition PMID:15806161|PMID:18305557|PMID:21680795|PMID:21714648|PMID:24904105|PMID:24997145|PMID:25581430|PMID:25741868|PMID:25807284|PMID:26102509|PMID:26522332|PMID:27365488|PMID:27666367|PMID:27895058|PMID:28492532|PMID:30908598|PMID:31064749|PMID:31248877|PMID:31704777|PMID:32693409|PMID:32841218|PMID:33226740|PMID:33768492|PMID:35537115|PMID:9694803 8884763 Etv6 ETS variant transcription factor 6 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia 8884781 Socs7 suppressor of cytokine signaling 7 gene DOID:4001 ovarian carcinoma ISO RGD:1317076 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 8884781 Socs7 suppressor of cytokine signaling 7 gene DOID:630 genetic disease ISO RGD:1317076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884795 Gjc1 gap junction protein gamma 1 gene DOID:10763 hypertension ISO RGD:1350984 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19109587 8884795 Gjc1 gap junction protein gamma 1 gene DOID:630 genetic disease ISO RGD:1350984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:0050144 Kartagener syndrome ISO RGD:1332183 D RGD:9068941 20220825 MouseDO 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:0050545 visceral heterotaxy ISO RGD:1605540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:21131972|PMID:23255504|PMID:25741868|PMID:28492532 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1605540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1605540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 PMID:16055927|PMID:27928778|PMID:28492532 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:0110598 primary ciliary dyskinesia 14 ISO RGD:1605540 D RGD:7240710 20180130 OMIM 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:0110598 primary ciliary dyskinesia 14 ISO RGD:1605540 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: CCDC39-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 PMID:16199547|PMID:17576681|PMID:21131972|PMID:22499950|PMID:22693285|PMID:22693295|PMID:23255504|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25118008|PMID:25186273|PMID:25741868|PMID:27637300|PMID:28492532|PMID:29748307|PMID:30067075|PMID:31213628|PMID:31650533|PMID:31772028|PMID:31980526|PMID:33942430|PMID:34674941|PMID:34768622|PMID:9536098 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:0111546 Currarino syndrome ISO RGD:1605540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1605540 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:10908 hydrocephalus ISO RGD:1306277 D RGD:9068941 20211112 RGD PMID:31771992|REF_RGD_ID:150521527 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:10908 hydrocephalus ISO RGD:1332183 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1605540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:21131972|PMID:23255504|PMID:24498942|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31980526 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:5223 infertility ISO RGD:1605540 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infertility PMID:16199547|PMID:21131972|PMID:22693295|PMID:23255504|PMID:25741868|PMID:28492532 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:630 genetic disease ISO RGD:1605540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:758 situs inversus ISO RGD:1605540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:21131972|PMID:23255504|PMID:25741868|PMID:28492532 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:9004821 Fibrous Sheath Dysplasia ISO RGD:1605540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous Sheath Dysplasia 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:9009131 Ventriculomegaly ISO RGD:1306277 D RGD:9068941 20211112 RGD PMID:31771992|REF_RGD_ID:150521527 8884805 Ccdc39 coiled-coil domain 39 molecular ruler complex subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21131972|PMID:22406018|PMID:22499950|PMID:22693285|PMID:22693295|PMID:23255504|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25118008|PMID:25186273|PMID:25640679|PMID:25741868|PMID:27637300|PMID:28230599|PMID:28492532|PMID:29748307|PMID:30067075|PMID:31213628|PMID:31650533|PMID:31772028|PMID:31980526|PMID:32253119|PMID:33005176|PMID:33942430|PMID:34768622|PMID:9536098 8884829 Camkk2 calcium/calmodulin dependent protein kinase kinase 2 gene DOID:3070 high grade glioma disease_progression ISO RGD:737324 D RGD:9068941 20200609 RGD PMID:27012733|REF_RGD_ID:13674178 8884829 Camkk2 calcium/calmodulin dependent protein kinase kinase 2 gene DOID:630 genetic disease ISO RGD:737324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884829 Camkk2 calcium/calmodulin dependent protein kinase kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28634229 8884829 Camkk2 calcium/calmodulin dependent protein kinase kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28634229 8884893 Myo1a myosin IA gene DOID:0110571 autosomal dominant nonsyndromic deafness 48 ISO RGD:1345169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 48 PMID:12736868|PMID:24033266|PMID:24616153|PMID:25741868 8884893 Myo1a myosin IA gene DOID:10003 sensorineural hearing loss ISO RGD:1345169 D RGD:9068941 20200609 RGD DFNA48, OMIM:607841 PMID:12736868|REF_RGD_ID:1600218 8884893 Myo1a myosin IA gene DOID:10283 prostate cancer ISO RGD:1345169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8884893 Myo1a myosin IA gene DOID:630 genetic disease ISO RGD:1345169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868 8884893 Myo1a myosin IA gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1345169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266 8884925 Islr2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8884925 Islr2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:2717 Bloom syndrome ISO RGD:1605977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8884925 Islr2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:5419 schizophrenia ISO RGD:1605977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8884925 Islr2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:630 genetic disease ISO RGD:1605977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884925 Islr2 immunoglobulin superfamily containing leucine rich repeat 2 gene DOID:9256 colorectal cancer ISO RGD:1605977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8884942 Rassf5 Ras association domain family member 5 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8884942 Rassf5 Ras association domain family member 5 gene DOID:12849 autistic disorder ISO RGD:1606212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8884942 Rassf5 Ras association domain family member 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1606212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8884942 Rassf5 Ras association domain family member 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606212 D RGD:9068941 20200609 RGD PMID:20434789|REF_RGD_ID:13503325 8884942 Rassf5 Ras association domain family member 5 gene DOID:630 genetic disease ISO RGD:1606212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884942 Rassf5 Ras association domain family member 5 gene DOID:769 neuroblastoma ISO RGD:1606212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18452173 8884942 Rassf5 Ras association domain family member 5 gene DOID:9002265 Kidney Neoplasms ISO RGD:1606212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217643 8884942 Rassf5 Ras association domain family member 5 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8884942 Rassf5 Ras association domain family member 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:733134 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8884942 Rassf5 Ras association domain family member 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17119116 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1323770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1323770 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1323770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1323770 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1323770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:1612 breast cancer resistance ISO RGD:1323770 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs1979276, T allele associated with 0.56x reduction in risk PMID:17896178|REF_RGD_ID:2300321 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:2394 ovarian cancer ISO RGD:1323770 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17031801|REF_RGD_ID:2300329 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:863 nervous system disease ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:9006205 Animal Disease Models ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1323770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17595805 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:1323770 D RGD:9068941 20200609 RGD DNA:SNP:CDS:no association between SNP rs1979277, rs1979276 or rs3783 and susceptibility to breast cancer PMID:17311260|REF_RGD_ID:2300328 8884960 Shmt1 serine hydroxymethyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25227144 8884980 Rrn3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:12849 autistic disorder ISO RGD:1347637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8884980 Rrn3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:14330 Parkinson's disease ISO RGD:1553236 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 8884980 Rrn3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:1826 epilepsy ISO RGD:1347637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8884980 Rrn3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:5419 schizophrenia ISO RGD:1347637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8884980 Rrn3 RRN3 homolog, RNA polymerase I transcription factor gene DOID:630 genetic disease ISO RGD:1347637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885008 Chst1 carbohydrate sulfotransferase 1 gene DOID:1059 intellectual disability ISO RGD:1317743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8885008 Chst1 carbohydrate sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1317743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885025 Sarnp SAP domain containing ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1603945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885043 Irx1 iroquois homeobox 1 gene DOID:1682 congenital heart disease ISO RGD:1349465 D RGD:9068941 20230706 RGD DNA:missense mutations:CDS:p.Q240E, p.S298N, p.A381E ( , , rs530506520) (human) PMID:28358424|REF_RGD_ID:329950497 8885043 Irx1 iroquois homeobox 1 gene DOID:6000 congestive heart failure treatment ISO RGD:1309060 D RGD:9068941 20230706 RGD PMID:31640472|REF_RGD_ID:329950496 8885043 Irx1 iroquois homeobox 1 gene DOID:630 genetic disease ISO RGD:1349465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885043 Irx1 iroquois homeobox 1 gene DOID:850 lung disease ISO RGD:1349465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0002116 pterygium disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19420332|REF_RGD_ID:8657043 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0050127 sinusitis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:20392482|REF_RGD_ID:5130763 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0050697 chorioamnionitis severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12712078|REF_RGD_ID:13204828 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0050700 cardiomyopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16681691|REF_RGD_ID:1581215 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0050700 cardiomyopathy treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:21810612|REF_RGD_ID:13204757 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:14504963|REF_RGD_ID:13204808 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0050827 rheumatic heart disease ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16406300|REF_RGD_ID:1582623 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0050848 obstructive sleep apnea ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19652426|REF_RGD_ID:5130877 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0050848 obstructive sleep apnea disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:palatopharyngeal muscle PMID:20836084|REF_RGD_ID:5129212 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0050851 glomerulosclerosis ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Hyperhomocysteinemia PMID:20406136|REF_RGD_ID:7207203 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0050851 glomerulosclerosis ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Obesity;mRNA:decreased expression:glomerulus PMID:9300240|REF_RGD_ID:8547929 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0050855 renal fibrosis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23006043|REF_RGD_ID:13204847 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0060001 withdrawal disorder ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20519536 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:25466251|REF_RGD_ID:13204755 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0060041 autism spectrum disorder ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25466251|REF_RGD_ID:13204755 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14744773|REF_RGD_ID:2290436 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0060224 atrial fibrillation ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:18194448|REF_RGD_ID:8547896 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0060224 atrial fibrillation ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:papillary muscle of left ventricle PMID:19734590|REF_RGD_ID:8549736 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0060903 thrombosis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Arteriovenous Fistula;DNA:snp:promoter:g.-1562C>A (rs34016235) (human) PMID:20616161|REF_RGD_ID:7207048 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0080162 lupus nephritis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22479529 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0080176 meningococcal meningitis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:10430840|REF_RGD_ID:8547971 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:blood, liver, lung PMID:23303633|REF_RGD_ID:13204885 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0080207 CAKUT2 treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:27448803|REF_RGD_ID:13204792 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0080685 aortic dissection treatment ISO RGD:731911 D RGD:9068941 20230223 RGD Apolipoprotein E knockout PMID:33403385|REF_RGD_ID:156420156 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0080745 polymyositis ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:11157561|REF_RGD_ID:8547876 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0080746 Sweet syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21658319|REF_RGD_ID:8657060 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0080855 Parkinsonism treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:15075439|REF_RGD_ID:13204850 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0081128 mandibuloacral dysplasia type A lipodystrophy ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18554282 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0081292 traumatic brain injury ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:0111563 Sturge-Weber syndrome severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23720035|REF_RGD_ID:13204823 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10223 dermatomyositis ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:11157561|REF_RGD_ID:8547876 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10534 stomach cancer ameliorates ISO RGD:1348437 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:23185624|REF_RGD_ID:13204814 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10591 pre-eclampsia ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:placenta PMID:17083831|REF_RGD_ID:2290399 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10591 pre-eclampsia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23776237|REF_RGD_ID:13204787 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:106 pleural tuberculosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:pleura: PMID:18715875|REF_RGD_ID:5129700 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10652 Alzheimer's disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17697439|REF_RGD_ID:7207052 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:insertion: :p.Q279R (rs17576) (human) PMID:20808730|REF_RGD_ID:8549725 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1073 renal hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:12923405|REF_RGD_ID:1302333 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16840178|REF_RGD_ID:1582612 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:decreased expression:internal mammary artery PMID:15363819|REF_RGD_ID:1582532 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10763 hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:17977875|REF_RGD_ID:2290351 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10763 hypertension susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Aneurysm, Dissecting;DNA:polymorphism:promoter:-1562C>T PMID:16780738|REF_RGD_ID:1642029 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10808 gastric ulcer ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17603938 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10808 gastric ulcer ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:stomach secretion PMID:17603938|REF_RGD_ID:1642033 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:24633733|REF_RGD_ID:13204849 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:9310982|REF_RGD_ID:13204853 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:1348437 D RGD:9068941 20230202 RGD protein:increased expression:artery PMID:32602008|REF_RGD_ID:155882593 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23844137|REF_RGD_ID:8547935 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:artery PMID:17122420|REF_RGD_ID:1642055 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel PMID:17569872|REF_RGD_ID:2290352 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16961137|REF_RGD_ID:1582646 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10941 intracranial aneurysm treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:21937941|REF_RGD_ID:13204858 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10964 cholesteatoma of middle ear severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15620146|REF_RGD_ID:8547870 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:10976 membranous glomerulonephritis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:8613533|REF_RGD_ID:8547919 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:11054 urinary bladder cancer ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30548095 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:11054 urinary bladder cancer ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:17466450|REF_RGD_ID:2290395 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:11294 arteriovenous malformation ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16720380|REF_RGD_ID:1582655 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21211006|REF_RGD_ID:5129208 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:11446 sciatic neuropathy treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:25172308|REF_RGD_ID:13207330 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:11476 osteoporosis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with osteoporosis; protein:increased expression:serum PMID:19411568|REF_RGD_ID:5129553 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:19097983|REF_RGD_ID:5129685 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1168 familial hyperlipidemia ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:16490430|REF_RGD_ID:1642030 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:11723 Duchenne muscular dystrophy treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23977226|REF_RGD_ID:13204809 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18585501|REF_RGD_ID:5130889 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:12510 retinal ischemia treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:12662 paracoccidioidomycosis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:19765107|REF_RGD_ID:8657058 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:731911 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid PMID:17254480|REF_RGD_ID:5130726 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:12858 Huntington's disease ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:striatum PMID:21175737|REF_RGD_ID:13204827 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:12894 Sjogren's syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15316122|REF_RGD_ID:8547814 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:12894 Sjogren's syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased activity:saliva PMID:9923658|REF_RGD_ID:8547858 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:kidney PMID:19357873|REF_RGD_ID:2325738 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13139 crescentic glomerulonephritis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex (rat) PMID:16046515|REF_RGD_ID:2313720 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13241 Behcet's disease ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:17949555|REF_RGD_ID:8657044 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13241 Behcet's disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma, platelets PMID:22116092|REF_RGD_ID:8547820 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs2250889 (human) PMID:18512818|REF_RGD_ID:8547902 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased activity:temporal artery PMID:17502363|REF_RGD_ID:8657040 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8843867|REF_RGD_ID:8547826 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:temporal artery (human) PMID:15998676|REF_RGD_ID:1580575 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13375 temporal arteritis no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human) PMID:18512818|REF_RGD_ID:8547902 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13378 Kawasaki disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12626459|REF_RGD_ID:1580170 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13378 Kawasaki disease ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18311803|REF_RGD_ID:8547899 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13515 tuberous sclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:22459050|REF_RGD_ID:8547829 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP: :c.836A>G (rs17576) (human) PMID:23441116|REF_RGD_ID:8549724 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP: :rs2664538 (human) PMID:17110919|REF_RGD_ID:8547816 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs: :rs17576, rs3918249 (human) PMID:21655354|REF_RGD_ID:8547830 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13550 angle-closure glaucoma no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1562C>T (human) PMID:23441116|REF_RGD_ID:8549724 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13619 extrahepatic cholestasis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13641 exfoliation syndrome no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:insertion: :p.Q279R (rs17576) (human) PMID:20808730|REF_RGD_ID:8549725 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13714 anodontia ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP: :rs17576 (human) PMID:24351915|REF_RGD_ID:13204812 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:13934 facial paralysis ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus PMID:23817985|REF_RGD_ID:8547852 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16159824 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16678588|REF_RGD_ID:1580554 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:decreased activity:aorta (human) PMID:16820601|REF_RGD_ID:1582351 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:14004 thoracic aortic aneurysm ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:20621845|REF_RGD_ID:5129489 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:14250 Down syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:24519975|REF_RGD_ID:13204810 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:14261 fragile X syndrome ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25466251|REF_RGD_ID:13204755 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:14261 fragile X syndrome treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:26850918|REF_RGD_ID:11572344 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:14323 Marfan syndrome ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:14323 Marfan syndrome treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18178469|REF_RGD_ID:13204796 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1485 cystic fibrosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:17526676|REF_RGD_ID:5130723 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1485 cystic fibrosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:25545245|REF_RGD_ID:13204794 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1561 cognitive disorder ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22363061|REF_RGD_ID:8694114 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1574 alcohol use disorder ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:24966898|REF_RGD_ID:13207311 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1657 ventricular septal defect severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:21238444|REF_RGD_ID:13204804 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1686 glaucoma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16185954|REF_RGD_ID:8547817 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:tongue PMID:18254958|REF_RGD_ID:8547895 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:middle ear PMID:22178867|REF_RGD_ID:8547836 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:21624249|REF_RGD_ID:8657057 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1749 squamous cell carcinoma ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:11081634|REF_RGD_ID:8547854 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22952646 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7635566|REF_RGD_ID:2325766 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18030366|PMID:18445772|REF_RGD_ID:2325849|REF_RGD_ID:2325854 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19629003|REF_RGD_ID:2325831 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:182 calcinosis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545515|PMID:21193197 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1824 status epilepticus ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, astrocyte, dendrite PMID:17928157|REF_RGD_ID:8547922 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1825 childhood absence epilepsy ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:20303372|REF_RGD_ID:8547934 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:1826 epilepsy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus PMID:23182966|REF_RGD_ID:13204763 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2123 tularemia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:17202364|REF_RGD_ID:5130727 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2234 focal epilepsy ISO RGD:1348437 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:brain PMID:11592852|REF_RGD_ID:8547930 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16197500|REF_RGD_ID:8547921 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:224 transient cerebral ischemia treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23046750|PMID:24773551|REF_RGD_ID:13207320|REF_RGD_ID:13207323 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2316 brain ischemia ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15060315 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2316 brain ischemia ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16846501|REF_RGD_ID:1582611 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:234 colon adenocarcinoma ISO RGD:1348437 D RGD:9068941 20220826 RGD protein:increased expression:colon (human) PMID:22419013|REF_RGD_ID:153344572 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2349 arteriosclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15823277|REF_RGD_ID:1580550 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2349 arteriosclerosis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16317521|REF_RGD_ID:1582628 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP, repeat:promoter:-1562C>T (human) PMID:20471697|REF_RGD_ID:13204848 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:23401127|REF_RGD_ID:13204754 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:repeat, SNP:promoter PMID:10713364|REF_RGD_ID:13204826 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1562C>T (human) PMID:19628284|REF_RGD_ID:13204795 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2378 relapsing-remitting multiple sclerosis treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16412833|REF_RGD_ID:13204825 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2508 Takayasu's arteritis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:23100088|REF_RGD_ID:8693315 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2560 morphine dependence ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20519536 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:bronchoalveolar lavage fluid PMID:20417130|REF_RGD_ID:5130759 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11742282|PMID:15131573 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19940022|REF_RGD_ID:5129522 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP: : rs2664538(human) PMID:20181264|REF_RGD_ID:5130859 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19361849|REF_RGD_ID:5129687 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21439806|REF_RGD_ID:5129204 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2841 asthma ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:16191269|REF_RGD_ID:2325953 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12487935|REF_RGD_ID:2298523 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:289 endometriosis ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:20085636|REF_RGD_ID:2325792 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:2957 pulmonary tuberculosis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16982845|REF_RGD_ID:5130746 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3042 allergic contact dermatitis ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:skin, lymph node PMID:16977379|REF_RGD_ID:2325935 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3042 allergic contact dermatitis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:10359808|PMID:10415717|REF_RGD_ID:8547869|REF_RGD_ID:8693317 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3068 glioblastoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16598420 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3068 glioblastoma severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:7616276|REF_RGD_ID:7207145 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3068 glioblastoma treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:12439751|REF_RGD_ID:8547973 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3069 malignant astrocytoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20188714 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3082 interstitial lung disease ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:20185904|REF_RGD_ID:5130857 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3082 interstitial lung disease ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid PMID:17643278|REF_RGD_ID:5130207 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19299917 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19411568|REF_RGD_ID:5129553 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1562C-->T (human) PMID:18619044|REF_RGD_ID:5130149 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1562C-->T (human) PMID:20160424|REF_RGD_ID:5129494 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:25842729|REF_RGD_ID:13207319 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:326 ischemia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:15047130|REF_RGD_ID:1582640 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3310 atopic dermatitis treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:27776525|REF_RGD_ID:13204759 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum, plasma PMID:18760908|REF_RGD_ID:5129697 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:skin of body, spinal cord PMID:20441996|REF_RGD_ID:13204793 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebrospinal fluid (human) PMID:19796283|REF_RGD_ID:7207054 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:22459050|REF_RGD_ID:8547829 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15191941|REF_RGD_ID:1582644 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3393 coronary artery disease treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:26261622|REF_RGD_ID:11344965 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3407 carotid artery disease ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16339461|REF_RGD_ID:1582626 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3454 brain infarction ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16599837|REF_RGD_ID:1582617 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3525 middle cerebral artery infarction ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19309543 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:24842554|REF_RGD_ID:13204729 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3526 cerebral infarction ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16846501 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:20332475|REF_RGD_ID:2325830 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, serum PMID:18706098|REF_RGD_ID:2325844 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3627 aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10231640 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348437 D RGD:9068941 20220526 RGD protein:increased activity: esophagus PMID:24789592|REF_RGD_ID:152600903 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3770 pulmonary fibrosis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21468558 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3770 pulmonary fibrosis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:lung, plasma PMID:17121240|REF_RGD_ID:1642054 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23318412|REF_RGD_ID:13204970 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21789004 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20704821|REF_RGD_ID:5129215 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4079 heart valve disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:24093773|REF_RGD_ID:13204818 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:409 liver disease ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:418 systemic scleroderma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15642145|REF_RGD_ID:1580577 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4195 hyperglycemia ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Brain Ischemia PMID:17272778|REF_RGD_ID:1642027 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4250 conjunctivochalasis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva PMID:20019361|REF_RGD_ID:8693314 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4448 macular degeneration ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:22490043|REF_RGD_ID:7829793 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4448 macular degeneration severity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:22773904|REF_RGD_ID:10053644 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18035688|REF_RGD_ID:2290358 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:23894602|REF_RGD_ID:13204851 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4724 brain edema ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15529013 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4724 brain edema ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:20541575|REF_RGD_ID:5490126 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:25562781|REF_RGD_ID:13204790 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4947 cholangiocarcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:16463672|REF_RGD_ID:2325856 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4947 cholangiocarcinoma ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:15213623|REF_RGD_ID:2324667 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:4947 cholangiocarcinoma ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:15213623|REF_RGD_ID:2324667 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:520 aortic disease ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15545515 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:sural nerve PMID:10408538|REF_RGD_ID:13204856 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:5517 stomach carcinoma ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:stomach PMID:20434464|REF_RGD_ID:2325777 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:552 pneumonia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18007984|REF_RGD_ID:5130157 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:557 kidney disease ISO RGD:621320 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17392157|REF_RGD_ID:1642041 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:5679 retinal disease ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:5773 oral submucous fibrosis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16310260|PMID:24358288 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery, plasma (human) PMID:15118287|REF_RGD_ID:1582645 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16845718|REF_RGD_ID:1582653 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:heart left ventricle (rat) PMID:8531210|REF_RGD_ID:7207198 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:14729404|REF_RGD_ID:1582639 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:25520329|REF_RGD_ID:13204799 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:snps:promoter, exon:g.-1562C>T, p.R279Q (rs3918242, rs2664538) (human) PMID:17893005|REF_RGD_ID:7207049 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16952784|REF_RGD_ID:1582647 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle, plasma PMID:20606426|REF_RGD_ID:8694112 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:11342481|REF_RGD_ID:7207137 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:6000 congestive heart failure ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary; protein:increased expression:heart PMID:17913382|REF_RGD_ID:5130174 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:630 genetic disease ISO RGD:1348437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:21063214|REF_RGD_ID:5129210 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive;protein:decreased expression:monocyte PMID:16867026|REF_RGD_ID:1642028 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23087098|REF_RGD_ID:7207217 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Pulmonary Embolism;protein:increased expression:lung, plasma PMID:17133179|REF_RGD_ID:1642053 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:6432 pulmonary hypertension severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:18355767|REF_RGD_ID:5130155 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:646 viral encephalitis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with influenza; protein:increased expression:serum PMID:17529876|REF_RGD_ID:5130920 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:6688 autoimmune lymphoproliferative syndrome disease_progression ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:21376533|REF_RGD_ID:13204846 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20084675 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:21681821|REF_RGD_ID:8547864 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:7148 rheumatoid arthritis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16406300|REF_RGD_ID:1582623 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:769 neuroblastoma ISO RGD:1348437 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196988 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16432074|REF_RGD_ID:1582641 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:21256058|REF_RGD_ID:13207313 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:799 varicose veins ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16465063|REF_RGD_ID:1582620 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:820 myocarditis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16533694|REF_RGD_ID:1582352 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:824 periodontitis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22808498|PMID:24640096 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8398 osteoarthritis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, serum (human) PMID:15194590|REF_RGD_ID:7207131 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8440 ileus ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:jejunum, colon, peritoneal fluid PMID:23079570|REF_RGD_ID:8547906 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:20335295|REF_RGD_ID:5129490 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:621320 D RGD:9068941 20200609 RGD lung injury associated with pancreatitis, acute necrotizing PMID:19494493|REF_RGD_ID:5129548 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:621320 D RGD:9068941 20200609 RGD lung injury; mRNA, protein:increased expression:lung PMID:19545667|REF_RGD_ID:5129531 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:850 lung disease ISO RGD:731911 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury PMID:18223162|REF_RGD_ID:5130156 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8506 bullous pemphigoid ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:9687525|REF_RGD_ID:8547843 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8549 chronic ulcer of skin susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic in males;DNA:SNP:promoter:-1562C>T (rs3918242) (human) PMID:21455563|REF_RGD_ID:8547865 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8553 pyoderma gangrenosum ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:21658319|REF_RGD_ID:8657060 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8577 ulcerative colitis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22119283 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:869 cholesteatoma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19484988|REF_RGD_ID:8657059 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:874 bacterial pneumonia ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:19535150|REF_RGD_ID:5129533 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:874 bacterial pneumonia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:17202364|REF_RGD_ID:5130727 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8869 neuromyelitis optica ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21621856|REF_RGD_ID:8547883 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8881 rosacea ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:10509643|REF_RGD_ID:8547821 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8923 skin melanoma ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:12404291|REF_RGD_ID:13204786 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8923 skin melanoma disease progression ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) PMID:17346338|REF_RGD_ID:8547886 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8947 diabetic retinopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16643893|REF_RGD_ID:1582616 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8947 diabetic retinopathy ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21933988|REF_RGD_ID:8547857 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:10374894|REF_RGD_ID:8547815 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:10644865|REF_RGD_ID:7207194 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:25763638|REF_RGD_ID:12791993 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium PMID:12487935|REF_RGD_ID:2298523 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;protein:increased expression:serum PMID:20704821|REF_RGD_ID:5129215 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Tongue Neoplasms PMID:23107277|REF_RGD_ID:8547824 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000099 Experimental Colitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23323009|REF_RGD_ID:13207328 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:17371820|REF_RGD_ID:1642043 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:24419461|REF_RGD_ID:8657111 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1348437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000403 Animal Mammary Neoplasms treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23714264|REF_RGD_ID:8547831 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:17410600|REF_RGD_ID:1642039 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:19940022|REF_RGD_ID:5129522 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000784 Fibrosis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:20108118|REF_RGD_ID:2325790 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000787 Tachycardia, Atrioventricular Nodal Reentry treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15175065|REF_RGD_ID:13204852 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000806 Metaphyseal Anadysplasia 2 ISO RGD:1348437 D RGD:7240710 20180130 OMIM 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000806 Metaphyseal Anadysplasia 2 ISO RGD:1348437 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia 2 PMID:16631427|PMID:18035073|PMID:19615667|PMID:20605480|PMID:22942228|PMID:25741868|PMID:26207422|PMID:26489027|PMID:28492532|PMID:34407464 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000918 Disease Progression ISO RGD:1348437 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:621320 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000955 Acute Otitis Media ISO RGD:731911 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Melanoma PMID:16033831|REF_RGD_ID:8547861 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutation:cds:p.Q279R (human) PMID:17346338|REF_RGD_ID:8547886 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348437 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:15659795|PMID:16475674|PMID:18930813|PMID:21209944|PMID:21942447|PMID:34626302 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:8912869|REF_RGD_ID:8547928 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;protein:increased expression:brain PMID:16158251|REF_RGD_ID:8547884 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal PMID:18676849|REF_RGD_ID:8547878 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal; associated with Arthritis, Experimental PMID:21859454|REF_RGD_ID:5510000 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with carcinoma, pancreatic ductal; protein:increased expression:pancreas PMID:17378244|REF_RGD_ID:2325855 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with pancreatic cancer; protein:increased expression, increased activity:pancreas PMID:12173379|REF_RGD_ID:2325749 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:1348437 D RGD:9068941 20220428 RGD associated with osteosarcoma;protein:increased expression:bone (human) PMID:26546437|REF_RGD_ID:152023746 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000998 Brain Injuries ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19631748 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000998 Brain Injuries ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16671440|REF_RGD_ID:1582656 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9000998 Brain Injuries treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:24661104|REF_RGD_ID:13207312 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001004 Chronic Periodontitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Atherosclerosis PMID:24820783|REF_RGD_ID:13207324 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17304258|REF_RGD_ID:8657061 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001044 Choroidal Neovascularization ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:12368198|REF_RGD_ID:8547840 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:25314292|REF_RGD_ID:13207327 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001193 Metaphyseal Anadysplasia ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.M1K (c.21T>A)(human) PMID:19615667|REF_RGD_ID:13204811 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17374579|REF_RGD_ID:1642042 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001472 Nasal Polyps ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa PMID:23064462|REF_RGD_ID:8549735 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001472 Nasal Polyps disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:23987197|REF_RGD_ID:8657056 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Asthma, Aspirin-Induced; DNA:polymorphism:promoter: -1562C>T (human) PMID:19958602|REF_RGD_ID:5130861 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001488 Human Influenza ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased activity:lung, heart, brain PMID:20299740|REF_RGD_ID:5130855 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001542 Albuminuria onset ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human) PMID:9774113|REF_RGD_ID:7207214 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15095483 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:19528495|REF_RGD_ID:2325736 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver PMID:19539802|REF_RGD_ID:2325734 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001627 Pathologic Constriction susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16159601|REF_RGD_ID:1582642 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:621320 D RGD:9068941 20230803 RGD PMID:16141011|REF_RGD_ID:401717565 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002056 Arterial Injury treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:22552115|REF_RGD_ID:6484736 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Fatty Liver;mRNA, protein:decreased expression, decreased activity:liver PMID:17255325|REF_RGD_ID:8547976 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:repeat:promoter PMID:11576356|REF_RGD_ID:8547866 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23384615|REF_RGD_ID:13204971 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002221 Hyperplasia ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15728660 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16606632 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002457 Experimental Arthritis ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:cartilage, serum, synovial fluid PMID:17463159|REF_RGD_ID:1642035 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002467 Mycoplasma Infections ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:17217365|REF_RGD_ID:1642046 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002514 Neointima ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17964422 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002514 Neointima treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23344254|REF_RGD_ID:13207403 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002522 Embolism ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16720380|REF_RGD_ID:1582655 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14630814|PMID:15488484|PMID:15529013|PMID:16190367|PMID:19095969 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:17021183|REF_RGD_ID:1582637 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:9549496|REF_RGD_ID:8547909 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:multiple tissues PMID:20810258|REF_RGD_ID:13204762 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:22800566|REF_RGD_ID:8547936 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:24797785|REF_RGD_ID:13204801 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002884 Emphysema treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:22633097|REF_RGD_ID:13207325 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002906 Multiple Organ Failure ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15259001 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002906 Multiple Organ Failure ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:multiple tissues PMID:21964536|REF_RGD_ID:8547897 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002906 Multiple Organ Failure ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased activity:liver, lung, spleen (mouse) PMID:15259001|REF_RGD_ID:7207133 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002928 Colonic Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15725655 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002928 Colonic Neoplasms ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:large intestine mucosa PMID:21268133|REF_RGD_ID:5135051 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9002928 Colonic Neoplasms disease_progression ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:20428773|REF_RGD_ID:2325778 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003139 Cardiac Fibrosis ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:23905389|REF_RGD_ID:13204857 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003139 Cardiac Fibrosis ISO RGD:731911 D RGD:9068941 20200609 RGD associated with Cardiomegaly;mRNA:increased expression:heart PMID:23144938|REF_RGD_ID:13204817 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003157 Respiratory Sounds ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:brochoalveolar lavage fluid PMID:18391843|REF_RGD_ID:5130916 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003386 Sunburn susceptibility ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with skin melanoma;DNA:missense mutations:cds:p.Q279R, p.R668Q (human) PMID:17346338|REF_RGD_ID:8547886 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003507 Premature Birth ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24429678 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003613 Laryngeal Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:17786346|REF_RGD_ID:5130203 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa: PMID:19786210|REF_RGD_ID:5130872 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased activity:urine (human) PMID:17898039|REF_RGD_ID:7207083 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased activity:brain PMID:15364410|REF_RGD_ID:8547868 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003870 Herpes Simplex Encephalitis treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:20483026|REF_RGD_ID:8547867 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003871 Venous Thrombosis ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:femoral vein (rat) PMID:20515599|REF_RGD_ID:2325775 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003871 Venous Thrombosis ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16920980|REF_RGD_ID:1582648 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9003936 Cardiomegaly ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:17207419|REF_RGD_ID:1642047 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:621320 D RGD:9068941 20200609 RGD associated with lung injury; mRNA, protein:increased expression:lung PMID:19545667|REF_RGD_ID:5129531 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:731911 D RGD:9068941 20210924 RGD PMID:16551680|REF_RGD_ID:1582618 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:731911 D RGD:9068941 20210924 RGD protein:increased expression:limb muscle (mouse) PMID:16251419|REF_RGD_ID:1582631 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004080 Aortic Rupture ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:25760549|REF_RGD_ID:13204816 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004389 Bone Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16475674 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004464 Skin Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004484 Sepsis ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16003065 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004484 Sepsis treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23479197|REF_RGD_ID:8657110 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202|PMID:19700239|PMID:20188714|PMID:21187089|PMID:22503731|PMID:23867902|PMID:24333868 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004610 Acute Lung Injury ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23040778|REF_RGD_ID:13207316 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9004739 Cicatrix treatment ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Wounds, Penetrating PMID:23076999|REF_RGD_ID:13207326 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD Pulmonary Sclerosing Hemangioma; mRNA, protein:increased expression:lung PMID:17914564|REF_RGD_ID:5130173 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005172 Lung Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with lung disease; protein:decreased expression:pleural fluid PMID:20216542|REF_RGD_ID:5129491 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mammary gland PMID:19725228|REF_RGD_ID:2325823 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23359979|REF_RGD_ID:8657038 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005269 Stable Angina ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005372 Inflammation ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24429678|PMID:24795235 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005372 Inflammation ISO RGD:731911 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:16489579|REF_RGD_ID:8547835 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16280123|REF_RGD_ID:1642031 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005605 Arteriovenous Fistula ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:17398390|REF_RGD_ID:1642040 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005605 Arteriovenous Fistula treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23924957|REF_RGD_ID:13204800 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21963884|PMID:22191573 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:23423566|REF_RGD_ID:8547881 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17569353|REF_RGD_ID:2290354 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:23423566|REF_RGD_ID:8547881 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23089644|REF_RGD_ID:8547974 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9005941 Rhinosinusitis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:23401274|REF_RGD_ID:8547880 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:621320 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary; protein:increased expression:heart PMID:17913382|REF_RGD_ID:5130174 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:9327785|REF_RGD_ID:8547910 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9006205 Animal Disease Models ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:9546322|REF_RGD_ID:9685357 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9006778 Carotid Atherosclerosis disease_progression ISO RGD:1348437 D RGD:9068941 20230601 RGD protein:increased expression:carotid artery segment (human) PMID:16774841|REF_RGD_ID:329845567 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:18694576|REF_RGD_ID:5129703 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:16384971|REF_RGD_ID:8547891 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9007096 Stroke ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:16690896|REF_RGD_ID:1582615 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9007096 Stroke ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16051896|REF_RGD_ID:1582635 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9007096 Stroke ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:brain, plasma PMID:19556529|REF_RGD_ID:2325825 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22507835 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9007480 Hyperoxia ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression, decreased activity:lung PMID:15128910|REF_RGD_ID:8547972 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9007480 Hyperoxia ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:18658276|REF_RGD_ID:5130148 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9007590 Gouty Arthritis severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:14687896|REF_RGD_ID:8547877 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348437 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:14700523|PMID:19617202|PMID:22011395|PMID:30090327 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9007730 Burns ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17156757|REF_RGD_ID:1642051 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9007871 Malignant Pleural Effusions ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with pleurisy; protein:decreased activity:pleura PMID:17611666|REF_RGD_ID:5130711 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:skin (human) PMID:20708474|REF_RGD_ID:7207047 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9007956 Febrile Seizures ISO RGD:1348437 D RGD:9068941 20200609 RGD associated with influenza; protein:increased expression:serum PMID:17529876|REF_RGD_ID:5130920 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, intron, cds:-1590C>T, 2127G>T, p.R668Q (rs3918242, rs2274755, rs17577) (human) PMID:22237587|REF_RGD_ID:8547819 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008212 Diabetic Foot severity ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:22688339|REF_RGD_ID:8547813 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008225 Respirovirus Infections ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:lung PMID:16816895|REF_RGD_ID:5130923 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:22459050|REF_RGD_ID:8547829 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23149858|REF_RGD_ID:8657112 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23559867|REF_RGD_ID:8547885 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008691 Liver Injury ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:10933221|REF_RGD_ID:7207088 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008914 Lead Poisoning ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16700817 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617202 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:21159820|REF_RGD_ID:8547837 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:rs17577, rs3787268 (human) PMID:23570558|REF_RGD_ID:8547827 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:15538048|PMID:21151179|REF_RGD_ID:8547818|REF_RGD_ID:8547839 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18172859|REF_RGD_ID:2290343 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9008939 Breast Neoplasms no_association ISO RGD:1348437 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, CDS:rs3918241, rs2274756 (p.R668Q) (human) PMID:20725776|REF_RGD_ID:8547893 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9256 colorectal cancer ISO RGD:1348437 D RGD:9068941 20220609 RGD mRNA:increased expresion:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9256 colorectal cancer treatment ISO RGD:1348437 D RGD:9068941 20220728 RGD human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:731911 D RGD:9068941 20200609 RGD PMID:24739303|REF_RGD_ID:13204791 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9282 ocular hypertension ISO RGD:621320 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:eye PMID:19575923|REF_RGD_ID:2325732 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18552985|REF_RGD_ID:8547849 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17320450|REF_RGD_ID:7207195 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:23204894|REF_RGD_ID:8694120 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9470 bacterial meningitis ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:10430840|REF_RGD_ID:8547971 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9477 pulmonary embolism ISO RGD:621320 D RGD:9068941 20200609 RGD PMID:16304337|REF_RGD_ID:1582630 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9563 bronchiectasis ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:19725099|REF_RGD_ID:5129526 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:18408070|REF_RGD_ID:5130151 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema ISO RGD:621320 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:19897563|REF_RGD_ID:4892307 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9675 pulmonary emphysema treatment ISO RGD:1348437 D RGD:9068941 20200609 RGD PMID:14605041|REF_RGD_ID:8547887 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9743 diabetic neuropathy ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20213226 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731911 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23632630|REF_RGD_ID:13204760 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9970 obesity ISO RGD:1348437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21156398 8885064 Mmp9 matrix metallopeptidase 9 gene DOID:9970 obesity ISO RGD:1348437 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17512313|REF_RGD_ID:1642026 8885086 Lgsn lengsin, lens protein with glutamine synthetase domain gene DOID:630 genetic disease ISO RGD:1344000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885094 Herc5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:289 endometriosis ISO RGD:1346007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8885094 Herc5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:630 genetic disease ISO RGD:1346007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885094 Herc5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1346007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28919514 8885094 Herc5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1346007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8885094 Herc5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 gene DOID:9001488 Human Influenza ISO RGD:1346007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8885126 Ankrd13d ankyrin repeat domain 13D gene DOID:1059 intellectual disability ISO RGD:1605234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8885126 Ankrd13d ankyrin repeat domain 13D gene DOID:630 genetic disease ISO RGD:1605234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885126 Ankrd13d ankyrin repeat domain 13D gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605234 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8885126 Ankrd13d ankyrin repeat domain 13D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8885164 Nwd1 NACHT and WD repeat domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1604179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8885164 Nwd1 NACHT and WD repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:1604179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885187 Lpo lactoperoxidase gene DOID:0110980 Joubert syndrome 1 ISO RGD:1320729 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8885187 Lpo lactoperoxidase gene DOID:1059 intellectual disability ISO RGD:1320729 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:37071997 8885187 Lpo lactoperoxidase gene DOID:630 genetic disease ISO RGD:1320729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885207 Ift56 intraflagellar transport 56 gene DOID:0050876 Caroli disease ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Caroli disease PMID:31595528|PMID:32617964 8885207 Ift56 intraflagellar transport 56 gene DOID:0080690 RASopathy ISO RGD:1605330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8885207 Ift56 intraflagellar transport 56 gene DOID:10908 hydrocephalus ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:31595528|PMID:34177428 8885207 Ift56 intraflagellar transport 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8885207 Ift56 intraflagellar transport 56 gene DOID:630 genetic disease ISO RGD:1605330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885207 Ift56 intraflagellar transport 56 gene DOID:9003053 BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME ISO RGD:1605330 D RGD:7240710 20211208 OMIM 8885207 Ift56 intraflagellar transport 56 gene DOID:9003053 BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME ISO RGD:1605330 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Biliary, renal, neurologic, and skeletal syndrome PMID:25741868|PMID:31595528|PMID:32617964|PMID:34177428 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1347441 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:19734449|PMID:23296022|PMID:26336985|PMID:28302137|PMID:29625055 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:0050827 rheumatic heart disease treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:31894293|REF_RGD_ID:151347417 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:0050861 colorectal adenocarcinoma no_association ISO RGD:1347441 D RGD:9068941 20220107 RGD PMID:25339048|REF_RGD_ID:150573690 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1347441 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:0060180 colitis ISO RGD:737488 D RGD:9068941 20220114 RGD PMID:16717119|REF_RGD_ID:150573704 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:0080199 colorectal carcinoma ISO RGD:737488 D RGD:9068941 20220114 RGD PMID:16717119|REF_RGD_ID:150573704 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1347441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:10283 prostate cancer ISO RGD:1347441 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16458425|REF_RGD_ID:2290486 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:11054 urinary bladder cancer ISO RGD:1347441 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17522834|REF_RGD_ID:2298903 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1347441 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16242928|REF_RGD_ID:2298906 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:12351 alcoholic hepatitis ISO RGD:69272 D RGD:9068941 20220121 RGD mRNA:decreased expression:liver PMID:32317960|REF_RGD_ID:151347420 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:19469017|REF_RGD_ID:150573701 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:1587 thrombocytopenia due to platelet alloimmunization ISO RGD:1347441 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: IMMUNE THROMBOCYTOPENIA PMID:33087723 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:1909 melanoma ameliorates ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:19469017|REF_RGD_ID:150573701 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:219 colon cancer ameliorates ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:19469017|REF_RGD_ID:150573701 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:33081480|REF_RGD_ID:151347423 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1347441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:2600 laryngeal carcinoma severity ISO RGD:1347441 D RGD:9068941 20220114 RGD PMID:20164024|REF_RGD_ID:150573814 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1347441 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1347441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347441 D RGD:9068941 20220114 RGD mRNA:decreased expression:esophagus PMID:31728180|REF_RGD_ID:150573815 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1347441 D RGD:9068941 20220107 RGD PMID:21385099|REF_RGD_ID:150573691 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:28233302|REF_RGD_ID:150573812 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1347441 D RGD:9068941 20220114 RGD PMID:31910343|REF_RGD_ID:150573699 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:4001 ovarian carcinoma ISO RGD:1347441 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:15361843|REF_RGD_ID:2298907 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:409 liver disease ISO RGD:1347441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15197228 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:5041 esophageal cancer ISO RGD:1347441 D RGD:9068941 20220114 RGD mRNA,protein:decreased expression:esophagus: PMID:33862112|REF_RGD_ID:151232285 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:5082 liver cirrhosis exacerbates ISO RGD:732457 D RGD:9068941 20220114 RGD associated with Chemical and Drug Induced Liver Injury; PMID:30097285|REF_RGD_ID:150573810 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347441 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:16878360|REF_RGD_ID:2298904 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:5812 MHC class II deficiency ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:5844 myocardial infarction ISO RGD:69272 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:16377761|REF_RGD_ID:2298918 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:630 genetic disease ISO RGD:1347441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347441 D RGD:9068941 20220107 RGD associated with liver cirrhosis;DNA:altered methylation:liver: PMID:14614012|REF_RGD_ID:150573687 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347441 D RGD:9068941 20220114 RGD DNA:hypermethylation:CpG island, 5'untranslated region: PMID:15235874|REF_RGD_ID:150573700 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69272 D RGD:9068941 20220107 RGD PMID:18843197|REF_RGD_ID:150573689 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1347441 D RGD:9068941 20220114 RGD PMID:22318090|REF_RGD_ID:150573703 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:718 autoimmune hemolytic anemia ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic autoimmune hemolytic anemia PMID:32853638|PMID:33087723 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1347441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoimmune thrombocytopenia | ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura PMID:32853638|PMID:33087723 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15197228 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1347441 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15197228 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9002063 Familial Autoinflammatory Syndrome, with or without Immunodeficiency ISO RGD:1347441 D RGD:7240710 20210707 OMIM 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9002063 Familial Autoinflammatory Syndrome, with or without Immunodeficiency ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY PMID:25741868|PMID:32499645|PMID:32853638|PMID:33087723 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:31599432|REF_RGD_ID:151347182 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1347441 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25780291 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9004484 Sepsis ISO RGD:69272 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11312157|REF_RGD_ID:634751 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9004484 Sepsis ISO RGD:69272 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius PMID:12644450|REF_RGD_ID:2298924 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347441 D RGD:9068941 20200609 RGD PMID:20354188|REF_RGD_ID:21079418 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732457 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18381452|REF_RGD_ID:2298899 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9005647 Experimental Autoimmune Uveitis ameliorates ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:24993154|REF_RGD_ID:151232288 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9005930 Endotoxemia ISO RGD:732457 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, skeletal muscle PMID:15169905|REF_RGD_ID:2298923 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9005968 Neuralgia treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:27059231|REF_RGD_ID:151347419 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:732457 D RGD:9068941 20200609 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9007204 Dysbiosis ISO RGD:732457 D RGD:9068941 20220107 RGD PMID:30820436|REF_RGD_ID:150573685 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9007692 Insulin Resistance ISO RGD:732457 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:15240880|REF_RGD_ID:1625677 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:69272 D RGD:9068941 20220121 RGD PMID:27538408|REF_RGD_ID:151347179 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9008907 Immuno-Hemolytic Anemia ISO RGD:1347441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Immuno-hemolytic anemia PMID:32853638|PMID:33087723 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347441 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:15361843|REF_RGD_ID:2298907 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1347441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:33087723 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1347441 D RGD:9068941 20220114 RGD DNA:hypermethylation: : PMID:12759928|REF_RGD_ID:150573811 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1347441 D RGD:9068941 20220107 RGD PMID:27133036|REF_RGD_ID:150573688 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9351 diabetes mellitus ameliorates ISO RGD:732457 D RGD:9068941 20220114 RGD PMID:15100317|REF_RGD_ID:151232286 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9452 steatotic liver disease ISO RGD:732457 D RGD:9068941 20200609 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 8885269 Socs1 suppressor of cytokine signaling 1 gene DOID:9970 obesity ISO RGD:69272 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:white fat PMID:11027633|REF_RGD_ID:2298920 8885275 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1316735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8885275 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:0110801 hereditary spastic paraplegia 49 ISO RGD:1316735 D RGD:7240710 20180130 OMIM 8885275 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:0110801 hereditary spastic paraplegia 49 ISO RGD:1316735 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY PMID:16199547|PMID:17576681|PMID:23176824|PMID:25590979|PMID:25640679|PMID:25741868|PMID:26431026|PMID:26542466|PMID:27406698|PMID:28492532|PMID:28940097|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:34994087|PMID:9536098 8885275 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:10907 microcephaly ISO RGD:1316735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8885275 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:2367 neuroaxonal dystrophy ISO RGD:1316735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26555167 8885275 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:27406698|PMID:28492532|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098 8885275 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:17576681|PMID:23176824|PMID:25590979|PMID:25741868|PMID:27406698|PMID:28492532|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098 8885275 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316735 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:23176824|PMID:25590979|PMID:25741868|PMID:26542466|PMID:27406698|PMID:28492532|PMID:29908077|PMID:30681437|PMID:32209221|PMID:32657593|PMID:33847017|PMID:9536098 8885275 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:630 genetic disease ISO RGD:1316735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29908077|PMID:32657593 8885275 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:9002598 Spastic Paraparesis ISO RGD:1316735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23176824 8885275 Tecpr2 tectonin beta-propeller repeat containing 2 gene DOID:9005790 Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type ISO RGD:1316735 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, FRA12A type PMID:25741868|PMID:28492532 8885314 Anapc16 anaphase promoting complex subunit 16 gene DOID:630 genetic disease ISO RGD:1345646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885335 Rai2 retinoic acid induced 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1353493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8885335 Rai2 retinoic acid induced 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8885335 Rai2 retinoic acid induced 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1353493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 8885335 Rai2 retinoic acid induced 2 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1353493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8885335 Rai2 retinoic acid induced 2 gene DOID:12849 autistic disorder ISO RGD:1353493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8885335 Rai2 retinoic acid induced 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1353493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8885335 Rai2 retinoic acid induced 2 gene DOID:630 genetic disease ISO RGD:1353493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885335 Rai2 retinoic acid induced 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8885335 Rai2 retinoic acid induced 2 gene DOID:9565 dextrocardia ISO RGD:1353493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia 8885357 Ccdc154 coiled-coil domain containing 154 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:2299193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8885357 Ccdc154 coiled-coil domain containing 154 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:2299193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8885357 Ccdc154 coiled-coil domain containing 154 gene DOID:0110942 autosomal recessive osteopetrosis 1 ISO RGD:1619887 D RGD:9068941 20220825 MouseDO OMIM:259700 8885357 Ccdc154 coiled-coil domain containing 154 gene DOID:1826 epilepsy ISO RGD:2299193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8885357 Ccdc154 coiled-coil domain containing 154 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2299193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8885357 Ccdc154 coiled-coil domain containing 154 gene DOID:630 genetic disease ISO RGD:2299193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885405 Tmc1 transmembrane channel like 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:18616530|PMID:19187973|PMID:21917145|PMID:24033266 8885405 Tmc1 transmembrane channel like 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1318596 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:19187973|PMID:24033266|PMID:24416283|PMID:25741868|PMID:26467025|PMID:26969326|PMID:28492532|PMID:29654653|PMID:30303587|PMID:34416374|PMID:34523024 8885405 Tmc1 transmembrane channel like 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1318596 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11850618|PMID:16134132|PMID:17877751|PMID:18414213|PMID:18616530|PMID:19187973|PMID:20373850|PMID:21917145|PMID:22105175|PMID:24033266|PMID:24416283|PMID:24949729|PMID:25491636|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30303587|PMID:31854501|PMID:32747562|PMID:34523024 8885405 Tmc1 transmembrane channel like 1 gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1318596 D RGD:7240710 20180130 OMIM 8885405 Tmc1 transmembrane channel like 1 gene DOID:0110520 autosomal recessive nonsyndromic deafness 7 ISO RGD:1318596 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7 PMID:11850618|PMID:16134132|PMID:16199547|PMID:16287143|PMID:17576681|PMID:17877751|PMID:18414213|PMID:18616530|PMID:19187973|PMID:20373850|PMID:21250555|PMID:21252500|PMID:21917145|PMID:22105175|PMID:22607986|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24416283|PMID:24875298|PMID:24949729|PMID:25491636|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532|PMID:29654653|PMID:30303587|PMID:31028865|PMID:31541171|PMID:31814694|PMID:31854501|PMID:32747562|PMID:33724713|PMID:34416374|PMID:34523024|PMID:9536098 8885405 Tmc1 transmembrane channel like 1 gene DOID:0110563 autosomal dominant nonsyndromic deafness 36 ISO RGD:1318596 D RGD:7240710 20180130 OMIM 8885405 Tmc1 transmembrane channel like 1 gene DOID:0110563 autosomal dominant nonsyndromic deafness 36 ISO RGD:1318596 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition PMID:11850618|PMID:15354000|PMID:16134132|PMID:16199547|PMID:16287143|PMID:17250663|PMID:17576681|PMID:18616530|PMID:19180119|PMID:19187973|PMID:21250555|PMID:21252500|PMID:22105175|PMID:22607986|PMID:23208854|PMID:23767834|PMID:24033266|PMID:24416283|PMID:24827932|PMID:25388789|PMID:25741868|PMID:26011067|PMID:26467025|PMID:28492532|PMID:28501645|PMID:29533536|PMID:30303587|PMID:30896630|PMID:31028865|PMID:31541171|PMID:33095980|PMID:33168709|PMID:33524517|PMID:33724713|PMID:34523024|PMID:9536098 8885405 Tmc1 transmembrane channel like 1 gene DOID:0110909 inflammatory bowel disease 25 ISO RGD:1318596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 25, early onset, autosomal recessive PMID:25741868|PMID:26011067|PMID:28492532 8885405 Tmc1 transmembrane channel like 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 8885405 Tmc1 transmembrane channel like 1 gene DOID:630 genetic disease ISO RGD:1318596 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8885405 Tmc1 transmembrane channel like 1 gene DOID:9004538 Hearing Loss ISO RGD:1318596 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:11850618|PMID:16134132|PMID:16287143|PMID:22105175|PMID:23767834|PMID:25741868|PMID:28492532|PMID:28501645|PMID:30311386|PMID:33524517 8885405 Tmc1 transmembrane channel like 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1318596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:17576681|PMID:21252500|PMID:23208854|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 8885405 Tmc1 transmembrane channel like 1 gene DOID:9008681 Deafness ISO RGD:1318596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 8885428 Lgr6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1353750 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32215045 8885428 Lgr6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:0080600 COVID-19 ISO RGD:1353750 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8885428 Lgr6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:0111081 Fanconi anemia complementation group T ISO RGD:1353750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group T PMID:26046368 8885428 Lgr6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1353750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8885428 Lgr6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1353750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8885428 Lgr6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:1749 squamous cell carcinoma ISO RGD:1353750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28945253 8885428 Lgr6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:630 genetic disease ISO RGD:1353750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885428 Lgr6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353750 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8885428 Lgr6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 8885428 Lgr6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1353750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:23535733 8885428 Lgr6 leucine rich repeat containing G protein-coupled receptor 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8885455 CUNH17orf100 chromosome unknown C17orf100 homolog gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:2299982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 8885455 CUNH17orf100 chromosome unknown C17orf100 homolog gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:2299982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8885455 CUNH17orf100 chromosome unknown C17orf100 homolog gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:2299982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8885455 CUNH17orf100 chromosome unknown C17orf100 homolog gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:2299982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8885463 Appbp2 amyloid beta precursor protein binding protein 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315134 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8885463 Appbp2 amyloid beta precursor protein binding protein 2 gene DOID:11372 megacolon ISO RGD:1315134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8885463 Appbp2 amyloid beta precursor protein binding protein 2 gene DOID:630 genetic disease ISO RGD:1315134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885495 Selenon selenoprotein N gene DOID:0080102 congenital myopathy 4A ISO RGD:1603617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32746448|PMID:32796131|PMID:33652732|PMID:7224095 8885495 Selenon selenoprotein N gene DOID:0080102 congenital myopathy 4A ISO RGD:1603617 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion | ClinVar Annotator: match by term: SEPN1-Related Disorders PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16365872|PMID:17204937|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:20301436|PMID:20623375|PMID:21131290|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:28558865|PMID:28688748|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:32746448|PMID:32796131|PMID:33652732|PMID:7224095 8885495 Selenon selenoprotein N gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1603617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8885495 Selenon selenoprotein N gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1603617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8885495 Selenon selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:7240710 20180130 OMIM 8885495 Selenon selenoprotein N gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:1603617 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED PMID:11079538|PMID:11528383|PMID:1219264|PMID:12192640|PMID:12207930|PMID:15122708|PMID:15668457|PMID:15792869|PMID:16199547|PMID:16365872|PMID:16498447|PMID:16779558|PMID:17204937|PMID:17365175|PMID:17576681|PMID:17951086|PMID:18313359|PMID:18414213|PMID:18713863|PMID:19067361|PMID:19285539|PMID:19557870|PMID:19763152|PMID:20301436|PMID:20307669|PMID:20623375|PMID:20937510|PMID:21131290|PMID:21520333|PMID:21670436|PMID:22406018|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25182138|PMID:25525159|PMID:25635128|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066551|PMID:27447704|PMID:27863379|PMID:28357410|PMID:28492532|PMID:28558865|PMID:28688748|PMID:29172004|PMID:29382405|PMID:29669168|PMID:30612914|PMID:30642275|PMID:30921636|PMID:30932294|PMID:31127727|PMID:31321302|PMID:31847883|PMID:32154989|PMID:32528171|PMID:32746448|PMID:32796131|PMID:32860008|PMID:33184643|PMID:33333461|PMID:33652732|PMID:33762497|PMID:35368679|PMID:7224095|PMID:9536098|PMID:9585610 8885495 Selenon selenoprotein N gene DOID:0110926 nemaline myopathy 1 ISO RGD:1603617 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cap myopathy 1 PMID:25741868|PMID:30932294 8885495 Selenon selenoprotein N gene DOID:422 congenital structural myopathy ISO RGD:1603617 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:30932294 8885495 Selenon selenoprotein N gene DOID:630 genetic disease ISO RGD:1603617 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8885495 Selenon selenoprotein N gene DOID:9005077 Joint Instability ISO RGD:1603617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint laxity PMID:25741868|PMID:28492532 8885495 Selenon selenoprotein N gene DOID:9884 muscular dystrophy ISO RGD:1603617 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:11079538|PMID:11528383|PMID:12192640|PMID:12207930|PMID:17365175|PMID:17951086|PMID:18313359|PMID:18713863|PMID:19067361|PMID:21670436|PMID:23394784|PMID:24033266|PMID:24988964|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30921636|PMID:33652732 8885541 Zc3h12b zinc finger CCCH-type containing 12B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8885541 Zc3h12b zinc finger CCCH-type containing 12B gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1601698 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wilson-Turner syndrome 8885541 Zc3h12b zinc finger CCCH-type containing 12B gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1601698 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 8885541 Zc3h12b zinc finger CCCH-type containing 12B gene DOID:12849 autistic disorder ISO RGD:1601698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8885541 Zc3h12b zinc finger CCCH-type containing 12B gene DOID:630 genetic disease ISO RGD:1601698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8885541 Zc3h12b zinc finger CCCH-type containing 12B gene DOID:9008262 WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED ISO RGD:1601698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted PMID:25741868 8885558 Arhgap21 Rho GTPase activating protein 21 gene DOID:630 genetic disease ISO RGD:1322263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885600 Galm galactose mutarotase gene DOID:0080690 RASopathy ISO RGD:1350990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8885600 Galm galactose mutarotase gene DOID:11211 buphthalmos ISO RGD:1350990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:19234632|PMID:28492532|PMID:31251480|PMID:9097971|PMID:9497261 8885600 Galm galactose mutarotase gene DOID:3883 Lynch syndrome ISO RGD:1350990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8885600 Galm galactose mutarotase gene DOID:630 genetic disease ISO RGD:1350990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885600 Galm galactose mutarotase gene DOID:9004085 Galactosemia IV ISO RGD:1350990 D RGD:7240710 20200520 OMIM 8885600 Galm galactose mutarotase gene DOID:9004085 Galactosemia IV ISO RGD:1350990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GALACTOSE MUTAROTASE DEFICIENCY | ClinVar Annotator: match by term: GALACTOSEMIA IV | ClinVar Annotator: match by term: GALM-related condition PMID:25741868|PMID:28492532|PMID:30451973|PMID:30910422 8885611 LOC102010827 olfactory receptor 10V1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8885611 LOC102010827 olfactory receptor 10V1 gene DOID:1059 intellectual disability ISO RGD:1350461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8885611 LOC102010827 olfactory receptor 10V1 gene DOID:630 genetic disease ISO RGD:1350461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885615 Gprc5b G protein-coupled receptor class C group 5 member B gene DOID:630 genetic disease ISO RGD:1319887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885615 Gprc5b G protein-coupled receptor class C group 5 member B gene DOID:9001940 Megalencephalic Leukoencephalopathy with Subcortical Cysts 3 ISO RGD:1319887 D RGD:7240710 20230726 OMIM 8885615 Gprc5b G protein-coupled receptor class C group 5 member B gene DOID:9001940 Megalencephalic Leukoencephalopathy with Subcortical Cysts 3 ISO RGD:1319887 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 3 PMID:37143309 8885623 Gfod1 Gfo/Idh/MocA-like oxidoreductase domain containing 1 gene DOID:3393 coronary artery disease ISO RGD:1323002 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8885623 Gfod1 Gfo/Idh/MocA-like oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1323002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1317598 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant PMID:16648375|PMID:25741868|PMID:28492532 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:0111590 Cohen syndrome ISO RGD:1317598 D RGD:7240710 20180130 OMIM 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:0111590 Cohen syndrome ISO RGD:1317598 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition PMID:11169562|PMID:12730828|PMID:15141358|PMID:15154116|PMID:15173253|PMID:15211651|PMID:15498460|PMID:15691367|PMID:15918062|PMID:16199547|PMID:16648375|PMID:16917849|PMID:17383910|PMID:17576681|PMID:17786118|PMID:17990063|PMID:18414213|PMID:18655112|PMID:19006247|PMID:19190672|PMID:19533689|PMID:19763152|PMID:20307669|PMID:20461111|PMID:20656880|PMID:20683995|PMID:20921020|PMID:21330571|PMID:21659346|PMID:21865173|PMID:22382802|PMID:22406018|PMID:22527104|PMID:22700954|PMID:22855652|PMID:23033978|PMID:23188044|PMID:23352163|PMID:23757202|PMID:24033266|PMID:24311531|PMID:24334746|PMID:24334764|PMID:25060287|PMID:25326635|PMID:25356970|PMID:25472526|PMID:25502226|PMID:25525159|PMID:25533962|PMID:25640679|PMID:25741868|PMID:26104215|PMID:26133662|PMID:26395554|PMID:26443248|PMID:26467025|PMID:26539891|PMID:26938784|PMID:27175599|PMID:27353947|PMID:27380831|PMID:27533158|PMID:27829003|PMID:28041643|PMID:28057753|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28631888|PMID:28832562|PMID:29149870|PMID:29431110|PMID:29453417|PMID:29634382|PMID:29706646|PMID:29758347|PMID:30138938|PMID:30290665|PMID:30792901|PMID:30843084|PMID:31444703|PMID:31580008|PMID:31736247|PMID:31943017|PMID:31965297|PMID:32170714|PMID:32384097|PMID:32483926|PMID:32505691|PMID:32581362|PMID:32860008|PMID:32919079|PMID:32959227|PMID:33023636|PMID:33025479|PMID:33217554|PMID:33994118|PMID:34006472|PMID:34353225|PMID:34425733|PMID:9536098 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:10584 retinitis pigmentosa ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:26467025|PMID:28492532 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:1059 intellectual disability ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17990063|PMID:25741868|PMID:26467025|PMID:28492532 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:10907 microcephaly ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:11830 myopia ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:15141358|PMID:16199547|PMID:16648375|PMID:20461111|PMID:24334764|PMID:28492532|PMID:32581362 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:5419 schizophrenia ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:630 genetic disease ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15141358|PMID:15154116|PMID:15211651|PMID:15918062|PMID:16648375|PMID:17383910|PMID:17576681|PMID:17990063|PMID:18414213|PMID:19006247|PMID:20461111|PMID:20683995|PMID:20921020|PMID:21659346|PMID:22382802|PMID:22527104|PMID:23033978|PMID:23352163|PMID:23757202|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25472526|PMID:25502226|PMID:25525159|PMID:25741868|PMID:26133662|PMID:26443248|PMID:26467025|PMID:27175599|PMID:27353947|PMID:27380831|PMID:27829003|PMID:28057753|PMID:28492532|PMID:29758347|PMID:30792901|PMID:30843084|PMID:31736247|PMID:31943017|PMID:32384097|PMID:9536098 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:83 cataract ISO RGD:1322508 D RGD:9068941 20220825 MouseDO OMIM:601371 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:8501 fundus dystrophy ISO RGD:1317598 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness ISO RGD:1317598 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:26539891 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28492532 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9006534 Nervous System Malformations ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15141358|PMID:16648375|PMID:20461111|PMID:20656880|PMID:25741868|PMID:28492532 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1317598 D RGD:9068941 20200609 RGD Cohen syndrome, OMIM:216550:DNA:deletion mutation, nonsense mutation, missense mutation PMID:12730828|REF_RGD_ID:1357205 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9007661 Dwarfism ISO RGD:1317598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:15141358|PMID:15154116|PMID:16648375|PMID:17990063|PMID:20461111|PMID:25525159|PMID:25741868|PMID:28492532|PMID:34353225 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9008086 Developmental Disabilities ISO RGD:1317598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15141358|PMID:15173253|PMID:16199547|PMID:16648375|PMID:20461111|PMID:24334764|PMID:25741868|PMID:28492532|PMID:32581362 8885660 Vps13b vacuolar protein sorting 13 homolog B gene DOID:9008296 Eye Abnormalities ISO RGD:1317598 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15141358|PMID:16648375|PMID:20461111|PMID:25741868|PMID:26395554|PMID:28041643|PMID:28492532|PMID:29149870 8885737 Slc30a1 solute carrier family 30 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:731339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8885737 Slc30a1 solute carrier family 30 member 1 gene DOID:630 genetic disease ISO RGD:731339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885737 Slc30a1 solute carrier family 30 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8885744 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:733396 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 8885744 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:1059 intellectual disability ISO RGD:733396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8885744 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:12849 autistic disorder ISO RGD:733396 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 8885744 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:1932 Angelman syndrome ISO RGD:733396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 8885744 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:37 skin disease ISO RGD:733396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 8885744 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:5419 schizophrenia ISO RGD:733396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8885744 Apba2 amyloid beta precursor protein binding family A member 2 gene DOID:630 genetic disease ISO RGD:733396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885766 Wdr88 WD repeat domain 88 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1606735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8885766 Wdr88 WD repeat domain 88 gene DOID:630 genetic disease ISO RGD:1606735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885766 Wdr88 WD repeat domain 88 gene DOID:9119 acute myeloid leukemia ISO RGD:1606735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 8885783 Myo1g myosin IG gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8885783 Myo1g myosin IG gene DOID:630 genetic disease ISO RGD:1314390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885815 Rilpl1 Rab interacting lysosomal protein like 1 gene DOID:0081300 oculopharyngodistal myopathy 4 ISO RGD:1602163 D RGD:7240710 20220406 OMIM 8885815 Rilpl1 Rab interacting lysosomal protein like 1 gene DOID:630 genetic disease ISO RGD:1602163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885838 Mrps33 mitochondrial ribosomal protein S33 gene DOID:0080690 RASopathy ISO RGD:1319435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8885838 Mrps33 mitochondrial ribosomal protein S33 gene DOID:3312 bipolar disorder ISO RGD:1319435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8885838 Mrps33 mitochondrial ribosomal protein S33 gene DOID:630 genetic disease ISO RGD:1319435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885884 Hmgb1 high mobility group box 1 gene DOID:10652 Alzheimer's disease ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:23905994|REF_RGD_ID:10402058 8885884 Hmgb1 high mobility group box 1 gene DOID:10763 hypertension ISO RGD:1605729 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 8885884 Hmgb1 high mobility group box 1 gene DOID:10825 essential hypertension ISO RGD:1605729 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 8885884 Hmgb1 high mobility group box 1 gene DOID:10908 hydrocephalus ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22116431|REF_RGD_ID:10402405 8885884 Hmgb1 high mobility group box 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23991202|REF_RGD_ID:10402062 8885884 Hmgb1 high mobility group box 1 gene DOID:12986 leukostasis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28294475 8885884 Hmgb1 high mobility group box 1 gene DOID:13378 Kawasaki disease ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18720262|REF_RGD_ID:8695977 8885884 Hmgb1 high mobility group box 1 gene DOID:13603 obstructive jaundice ISO RGD:2802 D RGD:9068941 20210122 RGD protein:increased expression:liver, plasma PMID:21737101|REF_RGD_ID:10402168 8885884 Hmgb1 high mobility group box 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8885884 Hmgb1 high mobility group box 1 gene DOID:1936 atherosclerosis treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:20519084|REF_RGD_ID:10402182 8885884 Hmgb1 high mobility group box 1 gene DOID:224 transient cerebral ischemia ISO RGD:10711 D RGD:9068941 20200609 RGD protein:increased expression:brain, plasma PMID:23288172|REF_RGD_ID:8696004 8885884 Hmgb1 high mobility group box 1 gene DOID:234 colon adenocarcinoma ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:20616616|REF_RGD_ID:10402080 8885884 Hmgb1 high mobility group box 1 gene DOID:3070 high grade glioma treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:10830965|REF_RGD_ID:10402059 8885884 Hmgb1 high mobility group box 1 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1605729 D RGD:9068941 20200609 RGD PMID:23639787|REF_RGD_ID:10402056 8885884 Hmgb1 high mobility group box 1 gene DOID:3454 brain infarction ISO RGD:2802 D RGD:9068941 20230216 RGD PMID:19944723|REF_RGD_ID:2316741 8885884 Hmgb1 high mobility group box 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23480850|REF_RGD_ID:9681449 8885884 Hmgb1 high mobility group box 1 gene DOID:3526 cerebral infarction ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23288172|REF_RGD_ID:8696004 8885884 Hmgb1 high mobility group box 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8885884 Hmgb1 high mobility group box 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27616297 8885884 Hmgb1 high mobility group box 1 gene DOID:418 systemic scleroderma ISO RGD:10711 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18825489|REF_RGD_ID:8695973 8885884 Hmgb1 high mobility group box 1 gene DOID:418 systemic scleroderma ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18825489|REF_RGD_ID:8695973 8885884 Hmgb1 high mobility group box 1 gene DOID:5844 myocardial infarction ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21113057 8885884 Hmgb1 high mobility group box 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23188125|REF_RGD_ID:10402174 8885884 Hmgb1 high mobility group box 1 gene DOID:6000 congestive heart failure ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:23708738|REF_RGD_ID:10402070 8885884 Hmgb1 high mobility group box 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:24204700|REF_RGD_ID:10402081 8885884 Hmgb1 high mobility group box 1 gene DOID:630 genetic disease ISO RGD:1605729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885884 Hmgb1 high mobility group box 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:25032709|REF_RGD_ID:10402082 8885884 Hmgb1 high mobility group box 1 gene DOID:824 periodontitis ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression:gingiva PMID:24692854|REF_RGD_ID:10402172 8885884 Hmgb1 high mobility group box 1 gene DOID:8398 osteoarthritis ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:22330250|REF_RGD_ID:10401949 8885884 Hmgb1 high mobility group box 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2802 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:20195207|REF_RGD_ID:2325645 8885884 Hmgb1 high mobility group box 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Adenocarcinoma, Colon PMID:20616616|REF_RGD_ID:10402080 8885884 Hmgb1 high mobility group box 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2802 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 8885884 Hmgb1 high mobility group box 1 gene DOID:9000238 Acute-On-Chronic Liver Failure treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23591781|REF_RGD_ID:10402084 8885884 Hmgb1 high mobility group box 1 gene DOID:9000945 Ventilator-Induced Lung Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:24058610|REF_RGD_ID:10402091 8885884 Hmgb1 high mobility group box 1 gene DOID:9000972 Fever ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19265175 8885884 Hmgb1 high mobility group box 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22915134|REF_RGD_ID:7245513 8885884 Hmgb1 high mobility group box 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:21999229|REF_RGD_ID:10402064 8885884 Hmgb1 high mobility group box 1 gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22217518|REF_RGD_ID:7245568 8885884 Hmgb1 high mobility group box 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:serum, hepatocyte, cytoplasm PMID:21431875|REF_RGD_ID:10402078 8885884 Hmgb1 high mobility group box 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased oxidation:liver PMID:22514737|REF_RGD_ID:10402175 8885884 Hmgb1 high mobility group box 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:24578610|REF_RGD_ID:10402068 8885884 Hmgb1 high mobility group box 1 gene DOID:9002211 Hyperalgesia ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27474498 8885884 Hmgb1 high mobility group box 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:24077211|PMID:30142543|REF_RGD_ID:13838658|REF_RGD_ID:7364865 8885884 Hmgb1 high mobility group box 1 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression:heart, serum PMID:24599045|REF_RGD_ID:8696002 8885884 Hmgb1 high mobility group box 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1605729 D RGD:9068941 20200609 RGD mRNA:decreased expression:articular cartilage PMID:19139395|REF_RGD_ID:10402184 8885884 Hmgb1 high mobility group box 1 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:1605729 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid PMID:21968272|REF_RGD_ID:10402061 8885884 Hmgb1 high mobility group box 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2802 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm, extracellular matrix PMID:12384917|REF_RGD_ID:728698 8885884 Hmgb1 high mobility group box 1 gene DOID:9002644 Premature Aging ISO RGD:10711 D RGD:9068941 20200609 RGD protein:increased expression:adipose tissue PMID:21828285|REF_RGD_ID:10043099 8885884 Hmgb1 high mobility group box 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19265175 8885884 Hmgb1 high mobility group box 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:24371837|REF_RGD_ID:10402057 8885884 Hmgb1 high mobility group box 1 gene DOID:9003199 Systemic Vasculitis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146691 8885884 Hmgb1 high mobility group box 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1605729 D RGD:9068941 20200609 RGD PMID:23708738|REF_RGD_ID:10402070 8885884 Hmgb1 high mobility group box 1 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22392147|REF_RGD_ID:10402071 8885884 Hmgb1 high mobility group box 1 gene DOID:9004484 Sepsis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19265175|PMID:23146691 8885884 Hmgb1 high mobility group box 1 gene DOID:9004484 Sepsis treatment ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:20936717|REF_RGD_ID:10402173 8885884 Hmgb1 high mobility group box 1 gene DOID:9004484 Sepsis treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:19623040|REF_RGD_ID:10402067 8885884 Hmgb1 high mobility group box 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Burns PMID:23874764|REF_RGD_ID:10402098 8885884 Hmgb1 high mobility group box 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:19766246|REF_RGD_ID:4892587 8885884 Hmgb1 high mobility group box 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2802 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 8885884 Hmgb1 high mobility group box 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:20047080|REF_RGD_ID:10402179 8885884 Hmgb1 high mobility group box 1 gene DOID:9004974 Painful Neuropathy ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27474498 8885884 Hmgb1 high mobility group box 1 gene DOID:9005372 Inflammation ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21617575|PMID:22178603|PMID:22386814|PMID:22429818|PMID:23146691 8885884 Hmgb1 high mobility group box 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2802 D RGD:9068941 20200609 RGD associated with Endotoxemia;protein:increased expression:serum PMID:19959191|REF_RGD_ID:2316737 8885884 Hmgb1 high mobility group box 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:retina, cytoplasm PMID:23261684|REF_RGD_ID:10402069 8885884 Hmgb1 high mobility group box 1 gene DOID:9005749 Necrosis ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783637|PMID:22178603 8885884 Hmgb1 high mobility group box 1 gene DOID:9005930 Endotoxemia ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression:heart, serum PMID:18503231|REF_RGD_ID:10402065 8885884 Hmgb1 high mobility group box 1 gene DOID:9005968 Neuralgia ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 8885884 Hmgb1 high mobility group box 1 gene DOID:9006444 Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia ISO RGD:1605729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia PMID:20661588 8885884 Hmgb1 high mobility group box 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27474498 8885884 Hmgb1 high mobility group box 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:22115333|REF_RGD_ID:10402095 8885884 Hmgb1 high mobility group box 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8885884 Hmgb1 high mobility group box 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19783637 8885884 Hmgb1 high mobility group box 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10711 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8885884 Hmgb1 high mobility group box 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8885884 Hmgb1 high mobility group box 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:23706497|REF_RGD_ID:10402063 8885884 Hmgb1 high mobility group box 1 gene DOID:9007730 Burns treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:20723408|REF_RGD_ID:10402183 8885884 Hmgb1 high mobility group box 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:22093738|REF_RGD_ID:10402181 8885884 Hmgb1 high mobility group box 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1605729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21113057 8885884 Hmgb1 high mobility group box 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2802 D RGD:9068941 20200609 RGD PMID:19540007|PMID:23531454|REF_RGD_ID:10402066|REF_RGD_ID:10402170 8885898 Dapk2 death associated protein kinase 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1312311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28978663 8885898 Dapk2 death associated protein kinase 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8885898 Dapk2 death associated protein kinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1312311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8885898 Dapk2 death associated protein kinase 2 gene DOID:630 genetic disease ISO RGD:1312311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885898 Dapk2 death associated protein kinase 2 gene DOID:9005369 Hepatomegaly ISO RGD:1312311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8885898 Dapk2 death associated protein kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1312311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8885925 Ralgapa2 Ral GTPase activating protein catalytic subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1343955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8885985 Ints6l integrator complex subunit 6 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8885985 Ints6l integrator complex subunit 6 like gene DOID:12849 autistic disorder ISO RGD:1343446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8885985 Ints6l integrator complex subunit 6 like gene DOID:13501 Moebius syndrome ISO RGD:1343446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 8885985 Ints6l integrator complex subunit 6 like gene DOID:630 genetic disease ISO RGD:1343446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886008 Nfat5 nuclear factor of activated T cells 5 gene DOID:0060031 autoimmune disease of gastrointestinal tract ISO RGD:1319318 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Immunodeficiency and Autoimmune Enterocolopathy PMID:28492532 8886008 Nfat5 nuclear factor of activated T cells 5 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1319318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8886008 Nfat5 nuclear factor of activated T cells 5 gene DOID:630 genetic disease ISO RGD:1319318 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8886062 Klhl23 kelch like family member 23 gene DOID:630 genetic disease ISO RGD:1605864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886087 Rev3l REV3 like, DNA directed polymerase zeta catalytic subunit gene DOID:1520 colon carcinoma ISO RGD:1316069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003 8886087 Rev3l REV3 like, DNA directed polymerase zeta catalytic subunit gene DOID:630 genetic disease ISO RGD:1316069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8886137 Apbb3 amyloid beta precursor protein binding family B member 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:733384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8886137 Apbb3 amyloid beta precursor protein binding family B member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733384 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8886137 Apbb3 amyloid beta precursor protein binding family B member 3 gene DOID:630 genetic disease ISO RGD:733384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886137 Apbb3 amyloid beta precursor protein binding family B member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8886137 Apbb3 amyloid beta precursor protein binding family B member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733384 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8886162 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:0060245 MAST syndrome ISO RGD:1351182 D RGD:7240710 20180130 OMIM 8886162 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:0060245 MAST syndrome ISO RGD:1351182 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Mast syndrome PMID:14564668|PMID:16199547|PMID:17576681|PMID:24451228|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28752238|PMID:35111129|PMID:6024251|PMID:9536098 8886162 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:0110935 nemaline myopathy 6 ISO RGD:1351182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 8886162 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351182 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14564668|PMID:16199547|PMID:25741868|PMID:26467025|PMID:28492532 8886162 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:2476 hereditary spastic paraplegia susceptibility ISO RGD:1351182 D RGD:9068941 20200609 RGD PMID:14564668|REF_RGD_ID:1556574 8886162 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:2717 Bloom syndrome ISO RGD:1351182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8886162 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:630 genetic disease ISO RGD:1351182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8886162 Spg21 SPG21 abhydrolase domain containing, maspardin gene DOID:9256 colorectal cancer ISO RGD:1351182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8886183 Med12l mediator complex subunit 12L gene DOID:0050579 glycogen storage disease XV ISO RGD:1352033 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8886183 Med12l mediator complex subunit 12L gene DOID:0060692 platelet-type bleeding disorder 8 ISO RGD:1352033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation | ClinVar Annotator: match by term: Platelet-type bleeding disorder 8 PMID:11196645|PMID:12578987|PMID:20966167|PMID:25741868|PMID:28492532|PMID:29117459|PMID:31064749|PMID:32100410|PMID:7706468 8886183 Med12l mediator complex subunit 12L gene DOID:1059 intellectual disability ISO RGD:1352033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31155615 8886183 Med12l mediator complex subunit 12L gene DOID:2213 hemorrhagic disease ISO RGD:1352033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8886183 Med12l mediator complex subunit 12L gene DOID:630 genetic disease ISO RGD:1352033 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8886183 Med12l mediator complex subunit 12L gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1352033 D RGD:7240710 20200617 OMIM 8886183 Med12l mediator complex subunit 12L gene DOID:9000668 Nizon-Isidor Syndrome ISO RGD:1352033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nizon-Isidor syndrome PMID:25741868|PMID:31155615 8886183 Med12l mediator complex subunit 12L gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8886183 Med12l mediator complex subunit 12L gene DOID:9008582 Developmental Disease ISO RGD:1352033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8886233 Enox2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8886233 Enox2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:12849 autistic disorder ISO RGD:1345108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8886233 Enox2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1345108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20518072 8886233 Enox2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:1790 malignant mesothelioma ISO RGD:1345108 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26807072 8886233 Enox2 ecto-NOX disulfide-thiol exchanger 2 gene DOID:630 genetic disease ISO RGD:1345108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886265 Cstb cystatin B gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:735434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 8886265 Cstb cystatin B gene DOID:0110266 cataract 9 multiple types ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8886265 Cstb cystatin B gene DOID:0111452 progressive myoclonus epilepsy 1A ISO RGD:735434 D RGD:7240710 20191106 OMIM 8886265 Cstb cystatin B gene DOID:1059 intellectual disability ISO RGD:735434 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 8886265 Cstb cystatin B gene DOID:1059 intellectual disability ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 8886265 Cstb cystatin B gene DOID:10907 microcephaly ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639 8886265 Cstb cystatin B gene DOID:11832 visual epilepsy ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 8886265 Cstb cystatin B gene DOID:12849 autistic disorder ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8886265 Cstb cystatin B gene DOID:3068 glioblastoma ISO RGD:735434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 8886265 Cstb cystatin B gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 8886265 Cstb cystatin B gene DOID:3535 Unverricht-Lundborg syndrome ISO RGD:735434 D RGD:7240710 20191113 OMIM 8886265 Cstb cystatin B gene DOID:3535 Unverricht-Lundborg syndrome ISO RGD:735434 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Unverricht-Lundborg syndrome PMID:11814737|PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22154554|PMID:22936898|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639 8886265 Cstb cystatin B gene DOID:3565 meningioma ISO RGD:735434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 8886265 Cstb cystatin B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8886265 Cstb cystatin B gene DOID:543 dystonia ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 8886265 Cstb cystatin B gene DOID:630 genetic disease ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15483648|PMID:17003839|PMID:17217964|PMID:23091450|PMID:23205931|PMID:2347312|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9360639 8886265 Cstb cystatin B gene DOID:891 progressive myoclonus epilepsy ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17576681|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:23091450|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639|PMID:9536098 8886265 Cstb cystatin B gene DOID:9002801 Recurrence ISO RGD:735434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051 8886265 Cstb cystatin B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8886265 Cstb cystatin B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747051|PMID:22287159 8886265 Cstb cystatin B gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735434 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:15329070|PMID:15483648|PMID:16155205|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:8596935|PMID:9054946|PMID:9342192 8886265 Cstb cystatin B gene DOID:9008675 Dyskinesias ISO RGD:735434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskinesia PMID:15329070|PMID:15483648|PMID:16155205|PMID:17003839|PMID:17920138|PMID:18028412|PMID:18925453|PMID:20078424|PMID:21757863|PMID:22936898|PMID:23205931|PMID:25741868|PMID:26467025|PMID:26843564|PMID:28492532|PMID:29358611|PMID:32581362|PMID:8596935|PMID:9012407|PMID:9054946|PMID:9342192|PMID:9360639 8886265 Cstb cystatin B gene DOID:9263 homocystinuria ISO RGD:735434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8886265 Cstb cystatin B gene DOID:9562 primary ciliary dyskinesia ISO RGD:735434 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0050453 lissencephaly ISO RGD:1349260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly PMID:10441340|PMID:10583396|PMID:10727864|PMID:11115846|PMID:11502906|PMID:12885786|PMID:12885796|PMID:14581661|PMID:15007136|PMID:1671808|PMID:17576681|PMID:17664403|PMID:18414213|PMID:19667223|PMID:19808989|PMID:21410694|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26494205|PMID:26633545|PMID:27891766|PMID:28492532|PMID:29671837|PMID:32238909|PMID:33176815|PMID:9063735|PMID:9147889|PMID:9536098|PMID:9817918|PMID:9860301 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0050453 lissencephaly severity ISO RGD:1349260 D RGD:9068941 20200609 RGD DNA:mutations:: PMID:11115846|REF_RGD_ID:11073221 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:1622377 D RGD:9068941 20220825 MouseDO OMIM:247200 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0111169 subcortical band heterotopia ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10441340|PMID:11115846|PMID:11502906|PMID:14581661|PMID:1671808|PMID:18414213|PMID:25741868|PMID:28492532|PMID:29671837 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0112237 lissencephaly 1 ISO RGD:1349260 D RGD:7240710 20210331 OMIM 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:0112237 lissencephaly 1 ISO RGD:1349260 D RGD:8554872 20230905 ClinVar ClinVar Annotator: match by term: PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia | ClinVar Annotator: match by term: PAFAH1B1-related condition | ClinVar Annotator: match by term: Subcortical band heterotopia PMID:10441340|PMID:11115846|PMID:11502906|PMID:14581661|PMID:1671808|PMID:18414213|PMID:25741868|PMID:28492532|PMID:29671837 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:1059 intellectual disability ISO RGD:1349260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:11115846|PMID:14581661|PMID:1671808|PMID:18414213|PMID:25741868|PMID:28492532|PMID:29671837|PMID:9817918 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:11832 visual epilepsy disease_progression ISO RGD:620331 D RGD:9068941 20200609 RGD PMID:10398295|REF_RGD_ID:12790965 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:5419 schizophrenia ISO RGD:1349260 D RGD:9068941 20200609 RGD mRNA:decreased expression:hipocampus,dorsolateral prefrontal cortex: PMID:16510495|REF_RGD_ID:12790585 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:1349260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10583396|PMID:11115846|PMID:17664403|PMID:18414213|PMID:25741868|PMID:27891766|PMID:28492532|PMID:29671837 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349260 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:21569763|REF_RGD_ID:12790589 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:8927 learning disability ISO RGD:1622377 D RGD:9068941 20200609 RGD PMID:10541472|REF_RGD_ID:12790586 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1349260 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:28492532 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9005501 Abnormal Cortical Gyration ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal cortical gyration PMID:25741868 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1349260 D RGD:9068941 20200609 RGD PMID:1754098|REF_RGD_ID:1601499 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9007702 Carcinogenesis ISO RGD:1349260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24487275 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9008500 Classical Lissencephalies and Subcortical Band Heterotopias ISO RGD:1349260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia 8886319 Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 gene DOID:9923 developmental coordination disorder ISO RGD:1622377 D RGD:9068941 20200609 RGD PMID:10541472|REF_RGD_ID:12790586 8886352 Serinc2 serine incorporator 2 gene DOID:630 genetic disease ISO RGD:1322836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886378 Tmem68 transmembrane protein 68 gene DOID:630 genetic disease ISO RGD:1603902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886414 Znf300 zinc finger protein 300 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349700 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8886414 Znf300 zinc finger protein 300 gene DOID:630 genetic disease ISO RGD:1349700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886414 Znf300 zinc finger protein 300 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349700 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8886433 Apopt1 apoptogenic 1, mitochondrial gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:1312327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:25175347|PMID:25741868|PMID:28492532 8886433 Apopt1 apoptogenic 1, mitochondrial gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1312327 D RGD:7240710 20201111 OMIM 8886433 Apopt1 apoptogenic 1, mitochondrial gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1312327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:28492532|PMID:29577824|PMID:30724636 8886433 Apopt1 apoptogenic 1, mitochondrial gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8886433 Apopt1 apoptogenic 1, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1312327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25175347|PMID:25741868|PMID:28492532 8886433 Apopt1 apoptogenic 1, mitochondrial gene DOID:630 genetic disease ISO RGD:1312327 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8886442 Msantd3 Myb/SANT DNA binding domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1603187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8886442 Msantd3 Myb/SANT DNA binding domain containing 3 gene DOID:630 genetic disease ISO RGD:1603187 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886462 Tmem92 transmembrane protein 92 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1603555 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868 8886462 Tmem92 transmembrane protein 92 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1603555 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8886462 Tmem92 transmembrane protein 92 gene DOID:630 genetic disease ISO RGD:1603555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886462 Tmem92 transmembrane protein 92 gene DOID:9008086 Developmental Disabilities ISO RGD:1603555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 8886486 Polr2j RNA polymerase II subunit J gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8886486 Polr2j RNA polymerase II subunit J gene DOID:630 genetic disease ISO RGD:1320957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886494 Layn layilin gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1604525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8886494 Layn layilin gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1604525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8886494 Layn layilin gene DOID:1059 intellectual disability ISO RGD:1604525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8886494 Layn layilin gene DOID:12704 ataxia telangiectasia ISO RGD:1604525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8886494 Layn layilin gene DOID:630 genetic disease ISO RGD:1604525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886494 Layn layilin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8886494 Layn layilin gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1604525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8886505 Ehbp1 EH domain binding protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8886505 Ehbp1 EH domain binding protein 1 gene DOID:2661 myoepithelioma ISO RGD:1346487 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8886505 Ehbp1 EH domain binding protein 1 gene DOID:630 genetic disease ISO RGD:1346487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886505 Ehbp1 EH domain binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23593118 8886505 Ehbp1 EH domain binding protein 1 gene DOID:9007256 Prostate Cancer, Hereditary, 12 ISO RGD:1346487 D RGD:7240710 20180130 OMIM 8886505 Ehbp1 EH domain binding protein 1 gene DOID:9007256 Prostate Cancer, Hereditary, 12 ISO RGD:1346487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 12 PMID:18264098 8886556 Drgx dorsal root ganglia homeobox gene DOID:11372 megacolon ISO RGD:1353814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8886556 Drgx dorsal root ganglia homeobox gene DOID:5419 schizophrenia ISO RGD:1353814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8886566 Dusp16 dual specificity phosphatase 16 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1321793 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8886566 Dusp16 dual specificity phosphatase 16 gene DOID:224 transient cerebral ischemia ISO RGD:1310721 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:hippocampus, cytosol, nucleus PMID:23280045|REF_RGD_ID:7775014 8886566 Dusp16 dual specificity phosphatase 16 gene DOID:630 genetic disease ISO RGD:1321793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886566 Dusp16 dual specificity phosphatase 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8886577 Tlcd2 TLC domain containing 2 gene DOID:630 genetic disease ISO RGD:2292702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886585 Meltf melanotransferrin gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1317764 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8886585 Meltf melanotransferrin gene DOID:12849 autistic disorder ISO RGD:1317764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8886585 Meltf melanotransferrin gene DOID:1909 melanoma ISO RGD:1317764 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16704991 8886585 Meltf melanotransferrin gene DOID:5419 schizophrenia ISO RGD:1317764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8886585 Meltf melanotransferrin gene DOID:630 genetic disease ISO RGD:1317764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886609 Dmkn dermokine gene DOID:0110222 Brugada syndrome 5 ISO RGD:1605012 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8886609 Dmkn dermokine gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8886609 Dmkn dermokine gene DOID:543 dystonia ISO RGD:1605012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8886609 Dmkn dermokine gene DOID:630 genetic disease ISO RGD:1605012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886655 Fam135b family with sequence similarity 135 member B gene DOID:630 genetic disease ISO RGD:1606292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886702 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:736742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8886702 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:1059 intellectual disability ISO RGD:736742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8886702 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8886702 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:2746 glycogen storage disease V ISO RGD:736742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8886702 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:630 genetic disease ISO RGD:736742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886702 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736742 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8886702 Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8886726 Brwd1 bromodomain and WD repeat domain containing 1 gene DOID:12336 male infertility ISO RGD:1345101 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Male infertility PMID:33389130 8886726 Brwd1 bromodomain and WD repeat domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1345101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:22495309|PMID:25326635|PMID:25741868|PMID:30208311 8886726 Brwd1 bromodomain and WD repeat domain containing 1 gene DOID:14228 oligospermia ISO RGD:1345101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353305 8886726 Brwd1 bromodomain and WD repeat domain containing 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8886726 Brwd1 bromodomain and WD repeat domain containing 1 gene DOID:630 genetic disease ISO RGD:1345101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886726 Brwd1 bromodomain and WD repeat domain containing 1 gene DOID:9005960 Primary Ciliary Dyskinesia 51 ISO RGD:1345101 D RGD:7240710 20230712 OMIM 8886726 Brwd1 bromodomain and WD repeat domain containing 1 gene DOID:9005960 Primary Ciliary Dyskinesia 51 ISO RGD:1345101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 51 PMID:25741868|PMID:33389130 8886774 Myocd myocardin gene DOID:0060224 atrial fibrillation ISO RGD:1344327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8886774 Myocd myocardin gene DOID:0060889 prune belly syndrome ISO RGD:1344327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prune belly syndrome PMID:31513549 8886774 Myocd myocardin gene DOID:0112014 congenital megabladder ISO RGD:1344327 D RGD:7240710 20200101 OMIM 8886774 Myocd myocardin gene DOID:0112014 congenital megabladder ISO RGD:1344327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megabladder, congenital PMID:25741868|PMID:31513549 8886774 Myocd myocardin gene DOID:10230 aortic atherosclerosis ISO RGD:1344327 D RGD:9068941 20230824 RGD protein:decreased expression:aorta PMID:33035679|REF_RGD_ID:401793744 8886774 Myocd myocardin gene DOID:10230 aortic atherosclerosis exacerbates ISO RGD:1614957 D RGD:9068941 20230824 RGD PMID:33035679|REF_RGD_ID:401793744 8886774 Myocd myocardin gene DOID:10283 prostate cancer ISO RGD:1344327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8886774 Myocd myocardin gene DOID:10941 intracranial aneurysm ameliorates ISO RGD:1614957 D RGD:9068941 20230824 RGD PMID:25868147|REF_RGD_ID:401793751 8886774 Myocd myocardin gene DOID:12930 dilated cardiomyopathy ISO RGD:1344327 D RGD:9068941 20230824 RGD mRNA:increased expression:left ventricle PMID:12920479|REF_RGD_ID:401793745 8886774 Myocd myocardin gene DOID:12930 dilated cardiomyopathy ISO RGD:13867667 D RGD:9068941 20230824 RGD mRNA:increased expression:heart PMID:12920479|REF_RGD_ID:401793745 8886774 Myocd myocardin gene DOID:12930 dilated cardiomyopathy ISO RGD:1614957 D RGD:9068941 20220825 MouseDO 8886774 Myocd myocardin gene DOID:13832 patent ductus arteriosus ISO RGD:1614957 D RGD:9068941 20220825 MouseDO OMIM:607411 8886774 Myocd myocardin gene DOID:1682 congenital heart disease ISO RGD:631347 D RGD:9068941 20230824 RGD PMID:22996691|REF_RGD_ID:401793743 8886774 Myocd myocardin gene DOID:1826 epilepsy ISO RGD:1344327 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25558065 8886774 Myocd myocardin gene DOID:6000 congestive heart failure ISO RGD:1614957 D RGD:9068941 20230824 RGD PMID:19850880|REF_RGD_ID:11251948 8886774 Myocd myocardin gene DOID:630 genetic disease ISO RGD:1344327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8886774 Myocd myocardin gene DOID:9003936 Cardiomegaly ISO RGD:1344327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16556869 8886774 Myocd myocardin gene DOID:9007325 Cardio-Renal Syndrome ISO RGD:1344327 D RGD:9068941 20230824 RGD mRNA,protein:increased expression:left ventricle PMID:30971740|REF_RGD_ID:401793740 8886774 Myocd myocardin gene DOID:9007325 Cardio-Renal Syndrome ameliorates ISO RGD:631347 D RGD:9068941 20230824 RGD PMID:30971740|REF_RGD_ID:401793740 8886798 CUNH22orf31 chromosome unknown C22orf31 homolog gene DOID:0111252 vestibular schwannomatosis ISO RGD:1604374 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8886798 CUNH22orf31 chromosome unknown C22orf31 homolog gene DOID:0111650 ectodermal dysplasia 13 ISO RGD:1604374 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type PMID:25741868|PMID:28492532 8886798 CUNH22orf31 chromosome unknown C22orf31 homolog gene DOID:1059 intellectual disability ISO RGD:1604374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8886798 CUNH22orf31 chromosome unknown C22orf31 homolog gene DOID:630 genetic disease ISO RGD:1604374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886798 CUNH22orf31 chromosome unknown C22orf31 homolog gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8886810 Pde7b phosphodiesterase 7B gene DOID:0111955 immunodeficiency 27A ISO RGD:732248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 8886810 Pde7b phosphodiesterase 7B gene DOID:10283 prostate cancer ISO RGD:732248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8886810 Pde7b phosphodiesterase 7B gene DOID:630 genetic disease ISO RGD:732248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886810 Pde7b phosphodiesterase 7B gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:732248 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:0080006 bone development disease ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:0080600 COVID-19 ISO RGD:1349978 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:0111789 Frank-Ter Haar syndrome ISO RGD:1349978 D RGD:7240710 20180130 OMIM 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:0111789 Frank-Ter Haar syndrome ISO RGD:1349978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Frank-Ter Haar syndrome PMID:15523657|PMID:20137777|PMID:22509100|PMID:23140272|PMID:24105366|PMID:25741868|PMID:28492532|PMID:29276006|PMID:31931872|PMID:31978614|PMID:7158646|PMID:8484415 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:10754 otitis media ISO RGD:1320533 D RGD:9068941 20220825 MouseDO OMIM:166760 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:13550 angle-closure glaucoma ISO RGD:1349978 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28719234 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:1686 glaucoma ISO RGD:1320533 D RGD:9068941 20220825 MouseDO 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:630 genetic disease ISO RGD:1349978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29620724|PMID:35205281 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:9004538 Hearing Loss ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:9006205 Animal Disease Models ISO RGD:1349978 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28719234 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:9006257 Growth Disorders ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:9008296 Eye Abnormalities ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19669234 8886836 Sh3pxd2b SH3 and PX domains 2B gene DOID:9282 ocular hypertension ISO RGD:1349978 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28719234 8886854 Phospho2 phosphatase, orphan 2 gene DOID:630 genetic disease ISO RGD:1603445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886867 Spata25 spermatogenesis associated 25 gene DOID:0080540 galactosialidosis ISO RGD:1351206 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase 8886867 Spata25 spermatogenesis associated 25 gene DOID:2234 focal epilepsy ISO RGD:1351206 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8886867 Spata25 spermatogenesis associated 25 gene DOID:630 genetic disease ISO RGD:1351206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886867 Spata25 spermatogenesis associated 25 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1351206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8886889 Mfap3 microfibril associated protein 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8886889 Mfap3 microfibril associated protein 3 gene DOID:630 genetic disease ISO RGD:1350797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886889 Mfap3 microfibril associated protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350797 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8886905 Dok2 docking protein 2 gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1322166 D RGD:9068941 20220512 RGD mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human) PMID:27975172|REF_RGD_ID:152177494 8886905 Dok2 docking protein 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1322166 D RGD:9068941 20220519 RGD mRNA:decreased expression:lung (human) PMID:20139980|REF_RGD_ID:152177521 8886905 Dok2 docking protein 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1322167 D RGD:9068941 20220519 RGD PMID:20139980|REF_RGD_ID:152177521 8886905 Dok2 docking protein 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1332569 D RGD:9068941 20220512 RGD PMID:30475228|REF_RGD_ID:152177492 8886905 Dok2 docking protein 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1322167 D RGD:9068941 20220512 RGD PMID:24255704|REF_RGD_ID:152177493 8886905 Dok2 docking protein 2 gene DOID:630 genetic disease ISO RGD:1322166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886905 Dok2 docking protein 2 gene DOID:8778 Crohn's disease ISO RGD:1322166 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 8886905 Dok2 docking protein 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1322166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20139980 8886921 Tmem244 transmembrane protein 244 gene DOID:630 genetic disease ISO RGD:1606936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886932 Krt27 keratin 27 gene DOID:630 genetic disease ISO RGD:1345701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886949 Etaa1 ETAA1 activator of ATR kinase gene DOID:1793 pancreatic cancer ISO RGD:1604009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 8886949 Etaa1 ETAA1 activator of ATR kinase gene DOID:630 genetic disease ISO RGD:1604009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886977 Slitrk5 SLIT and NTRK like family member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1322151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8886977 Slitrk5 SLIT and NTRK like family member 5 gene DOID:10933 obsessive-compulsive disorder ISO RGD:1322151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418887 8886977 Slitrk5 SLIT and NTRK like family member 5 gene DOID:5419 schizophrenia ISO RGD:1322151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8886977 Slitrk5 SLIT and NTRK like family member 5 gene DOID:630 genetic disease ISO RGD:1322151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886986 Mab21l1 mab-21 like 1 gene DOID:12849 autistic disorder ISO RGD:1343203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8886986 Mab21l1 mab-21 like 1 gene DOID:630 genetic disease ISO RGD:1343203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8886986 Mab21l1 mab-21 like 1 gene DOID:9008126 Cerebellar, Ocular, Craniofacial, and Genital Syndrome ISO RGD:1343203 D RGD:7240710 20190911 OMIM 8886986 Mab21l1 mab-21 like 1 gene DOID:9008126 Cerebellar, Ocular, Craniofacial, and Genital Syndrome ISO RGD:1343203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar, ocular, craniofacial, and genital syndrome PMID:23374822|PMID:27075597|PMID:27103078|PMID:30487245 8886996 Sun5 Sad1 and UNC84 domain containing 5 gene DOID:0070184 spermatogenic failure 16 ISO RGD:1314928 D RGD:7240710 20190315 OMIM 8886996 Sun5 Sad1 and UNC84 domain containing 5 gene DOID:0070184 spermatogenic failure 16 ISO RGD:1314928 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 16 PMID:25741868|PMID:27640305|PMID:28492532|PMID:29331481 8886996 Sun5 Sad1 and UNC84 domain containing 5 gene DOID:630 genetic disease ISO RGD:1314928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887014 Ppp4r3b protein phosphatase 4 regulatory subunit 3B gene DOID:630 genetic disease ISO RGD:1603387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887073 Tm9sf2 transmembrane 9 superfamily member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1343017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 8887073 Tm9sf2 transmembrane 9 superfamily member 2 gene DOID:14701 propionic acidemia ISO RGD:1343017 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8887073 Tm9sf2 transmembrane 9 superfamily member 2 gene DOID:4621 holoprosencephaly ISO RGD:1343017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 8887073 Tm9sf2 transmembrane 9 superfamily member 2 gene DOID:630 genetic disease ISO RGD:1343017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887073 Tm9sf2 transmembrane 9 superfamily member 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1343017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8887073 Tm9sf2 transmembrane 9 superfamily member 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1343017 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cells (human) PMID:12730115|REF_RGD_ID:2317244 8887105 LOC102012060 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D ISO RGD:735899 D RGD:7240710 20180130 OMIM 8887105 LOC102012060 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D ISO RGD:735899 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate D PMID:25152455|PMID:25741868|PMID:26302975|PMID:28492532 8887105 LOC102012060 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:574 peripheral nervous system disease ISO RGD:735899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:16199547|PMID:28492532 8887105 LOC102012060 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:630 genetic disease ISO RGD:735899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8887105 LOC102012060 cytochrome c oxidase subunit 6A1, mitochondrial gene DOID:870 neuropathy ISO RGD:735899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:16199547|PMID:28492532 8887112 Saxo4 stabilizer of axonemal microtubules 4 gene DOID:0050773 paraganglioma ISO RGD:735928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 8887112 Saxo4 stabilizer of axonemal microtubules 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8887112 Saxo4 stabilizer of axonemal microtubules 4 gene DOID:1059 intellectual disability ISO RGD:735928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8887112 Saxo4 stabilizer of axonemal microtubules 4 gene DOID:630 genetic disease ISO RGD:735928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887112 Saxo4 stabilizer of axonemal microtubules 4 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:735928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 8887143 Ypel1 yippee like 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1351763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 8887143 Ypel1 yippee like 1 gene DOID:0080600 COVID-19 ISO RGD:1351763 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8887143 Ypel1 yippee like 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1351763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8887156 LOC102014046 cytochrome c oxidase subunit 6C gene DOID:0111590 Cohen syndrome ISO RGD:736850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8887156 LOC102014046 cytochrome c oxidase subunit 6C gene DOID:630 genetic disease ISO RGD:736850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887172 Nxph2 neurexophilin 2 gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1344701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 8887172 Nxph2 neurexophilin 2 gene DOID:5119 ovarian cyst ISO RGD:1344701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8887172 Nxph2 neurexophilin 2 gene DOID:630 genetic disease ISO RGD:1344701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887177 Tecrl trans-2,3-enoyl-CoA reductase like gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1604717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8887177 Tecrl trans-2,3-enoyl-CoA reductase like gene DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 ISO RGD:1604717 D RGD:7240710 20190315 OMIM 8887177 Tecrl trans-2,3-enoyl-CoA reductase like gene DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 ISO RGD:1604717 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 3 | ClinVar Annotator: match by term: TECRL-related condition PMID:17666061|PMID:25741868|PMID:27861123|PMID:30790670|PMID:31737537|PMID:32173957|PMID:33367594 8887177 Tecrl trans-2,3-enoyl-CoA reductase like gene DOID:2843 long QT syndrome ISO RGD:1604717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27861123|PMID:30790670 8887177 Tecrl trans-2,3-enoyl-CoA reductase like gene DOID:630 genetic disease ISO RGD:1604717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887177 Tecrl trans-2,3-enoyl-CoA reductase like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8887193 Dzank1 double zinc ribbon and ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:1322749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887235 Pcnt pericentrin gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317411 D RGD:7240710 20180130 OMIM 8887235 Pcnt pericentrin gene DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II ISO RGD:1317411 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: PCNT-related condition PMID:12210304|PMID:15372530|PMID:16199547|PMID:17576681|PMID:18157127|PMID:18174396|PMID:18414213|PMID:19448849|PMID:19643772|PMID:19839044|PMID:19937158|PMID:21195721|PMID:21270239|PMID:21567919|PMID:22821869|PMID:23033978|PMID:24033266|PMID:24928221|PMID:25326635|PMID:25363768|PMID:25741868|PMID:27124789|PMID:27323140|PMID:27900370|PMID:28492532|PMID:30214071|PMID:30922925|PMID:32267100|PMID:32818659|PMID:35568357|PMID:9536098 8887235 Pcnt pericentrin gene DOID:0070007 Seckel syndrome 1 ISO RGD:1317411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18157127 8887235 Pcnt pericentrin gene DOID:0070013 Seckel syndrome 2 ISO RGD:1317411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18174396 8887235 Pcnt pericentrin gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1317411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8887235 Pcnt pericentrin gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8887235 Pcnt pericentrin gene DOID:0110266 cataract 9 multiple types ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8887235 Pcnt pericentrin gene DOID:1059 intellectual disability ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23033978|PMID:25741868|PMID:28492532 8887235 Pcnt pericentrin gene DOID:10907 microcephaly ISO RGD:1317411 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8887235 Pcnt pericentrin gene DOID:11372 megacolon ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8887235 Pcnt pericentrin gene DOID:12849 autistic disorder ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8887235 Pcnt pericentrin gene DOID:14250 Down syndrome ISO RGD:1317411 D RGD:9068941 20200609 RGD PMID:22552340|PMID:23979692|REF_RGD_ID:11537399|REF_RGD_ID:11537404 8887235 Pcnt pericentrin gene DOID:630 genetic disease ISO RGD:1317411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 8887235 Pcnt pericentrin gene DOID:8725 vascular dementia ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 8887235 Pcnt pericentrin gene DOID:891 progressive myoclonus epilepsy ISO RGD:1317411 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8887235 Pcnt pericentrin gene DOID:9002954 Microcephalic Osteodysplastic Primordial Dwarfism ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism PMID:18414213|PMID:28492532 8887235 Pcnt pericentrin gene DOID:9008086 Developmental Disabilities ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8887235 Pcnt pericentrin gene DOID:9263 homocystinuria ISO RGD:1317411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8887235 Pcnt pericentrin gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317411 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8887285 Xpot exportin for tRNA gene DOID:630 genetic disease ISO RGD:1313662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887320 Gprc5a G protein-coupled receptor class C group 5 member A gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1603705 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8887320 Gprc5a G protein-coupled receptor class C group 5 member A gene DOID:630 genetic disease ISO RGD:1603705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887320 Gprc5a G protein-coupled receptor class C group 5 member A gene DOID:7148 rheumatoid arthritis ISO RGD:1603705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:1289 neurodegenerative disease ISO RGD:62199 D RGD:9068941 20200609 RGD DNA:deletion:exon: exons 5,6; males PMID:20467332|REF_RGD_ID:6482198 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:13580 cholestasis ISO RGD:1352469 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17256725 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:1936 atherosclerosis treatment ISO RGD:62199 D RGD:9068941 20231019 RGD PMID:29593532|PMID:33011372|REF_RGD_ID:401827839|REF_RGD_ID:401842381 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:409 liver disease ISO RGD:62199 D RGD:9068941 20200609 RGD PMID:21815813|REF_RGD_ID:6480869 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:630 genetic disease ISO RGD:1352469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:62199 D RGD:9068941 20200609 RGD DNA:deletion:exon:exons 5 and 6, estrogen dependent PMID:20679224|REF_RGD_ID:6482195 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:9002457 Experimental Arthritis ISO RGD:62199 D RGD:9068941 20200609 RGD PMID:21859686|REF_RGD_ID:6480864 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:62199 D RGD:9068941 20200609 RGD PMID:21266776|REF_RGD_ID:6480877 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:9005369 Hepatomegaly ISO RGD:1352469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1352469 D RGD:9068941 20200609 RGD PMID:20939869|REF_RGD_ID:13506790 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:9970 obesity ISO RGD:1352469 D RGD:9068941 20200609 RGD PMID:20939869|REF_RGD_ID:13506790 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:9970 obesity ISO RGD:1352469 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple PMID:17108812|REF_RGD_ID:1626248 8887353 Nr1h2 nuclear receptor subfamily 1 group H member 2 gene DOID:9970 obesity disease_progression ISO RGD:61906 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 8887376 Clcf1 cardiotrophin like cytokine factor 1 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1606817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8887376 Clcf1 cardiotrophin like cytokine factor 1 gene DOID:0080330 cold-induced sweating syndrome 2 ISO RGD:1606817 D RGD:7240710 20180130 OMIM 8887376 Clcf1 cardiotrophin like cytokine factor 1 gene DOID:0080330 cold-induced sweating syndrome 2 ISO RGD:1606817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 PMID:16782820|PMID:20400119|PMID:25741868 8887376 Clcf1 cardiotrophin like cytokine factor 1 gene DOID:0080600 COVID-19 ISO RGD:1606817 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8887376 Clcf1 cardiotrophin like cytokine factor 1 gene DOID:1059 intellectual disability ISO RGD:1606817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8887376 Clcf1 cardiotrophin like cytokine factor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1606817 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8887376 Clcf1 cardiotrophin like cytokine factor 1 gene DOID:630 genetic disease ISO RGD:1606817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8887376 Clcf1 cardiotrophin like cytokine factor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606817 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8887376 Clcf1 cardiotrophin like cytokine factor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8887386 Spocd1 SPOC domain containing 1 gene DOID:0112338 spermatogenic failure 57 ISO RGD:1345460 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation PMID:25741868|PMID:38359823 8887386 Spocd1 SPOC domain containing 1 gene DOID:630 genetic disease ISO RGD:1345460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887418 Mtmr6 myotubularin related protein 6 gene DOID:630 genetic disease ISO RGD:1313370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887450 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0050753 cerebellar ataxia ISO RGD:1606287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065 8887450 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0050952 spastic ataxia ISO RGD:1606287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25044680|PMID:25741868|PMID:28492532|PMID:34445196 8887450 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1606287 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:17576681|PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25741868|PMID:25880436|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29709707|PMID:31589614|PMID:31748115|PMID:32555262|PMID:33600046|PMID:34234304|PMID:35012964|PMID:35155316|PMID:36085396|PMID:9536098 8887450 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1606287 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:17576681|PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25741868|PMID:25880436|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29709707|PMID:31589614|PMID:31748115|PMID:32555262|PMID:33600046|PMID:34234304|PMID:35012964|PMID:35155316|PMID:36085396|PMID:9536098 8887450 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060270 pontocerebellar hypoplasia type 2D ISO RGD:1606287 D RGD:7240710 20180130 OMIM 8887450 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0060270 pontocerebellar hypoplasia type 2D ISO RGD:1606287 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D PMID:12920088|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25044680|PMID:25558065|PMID:25590979|PMID:25741868|PMID:25880436|PMID:26115735|PMID:26805434|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29709707|PMID:31130284|PMID:31589614|PMID:31607746|PMID:31748115|PMID:32214227|PMID:32555262|PMID:33600046|PMID:34234304|PMID:34445196|PMID:35012964|PMID:35091508|PMID:35155316|PMID:36085396|PMID:9536098 8887450 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:0070338 cerebellar hypoplasia ISO RGD:1606287 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 8887450 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:630 genetic disease ISO RGD:1606287 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25558065|PMID:25590979|PMID:25741868|PMID:26115735|PMID:28492532|PMID:31607746|PMID:9536098 8887450 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606287 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:17576681|PMID:25741868|PMID:28492532|PMID:31748115|PMID:32555262|PMID:34234304|PMID:35012964|PMID:35155316|PMID:36085396|PMID:9536098 8887450 Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase gene DOID:9004657 Weight Gain ISO RGD:1606287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:0070340 classic citrullinemia ISO RGD:731023 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: argininosuccinate synthetase deficiency PMID:11941481|PMID:15654334|PMID:16424354|PMID:16554528|PMID:16571601|PMID:18354102|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20031607|PMID:20579540|PMID:23743349|PMID:24507774|PMID:25278291|PMID:25412415|PMID:25741868|PMID:26049403|PMID:26467025|PMID:27135400|PMID:27218270|PMID:27280970|PMID:27765764|PMID:28492532|PMID:28768753|PMID:28965616|PMID:29083407|PMID:29261184|PMID:29997226|PMID:33091218 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:13810 familial hypercholesterolemia ISO RGD:731023 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition PMID:10357843|PMID:10764678|PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:14727179|PMID:15099351|PMID:15166014|PMID:15358785|PMID:15654334|PMID:15772090|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16224054|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16777760|PMID:16909389|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17435765|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17765246|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18028451|PMID:18039650|PMID:18197702|PMID:18250299|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18436227|PMID:18559913|PMID:18631360|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19571328|PMID:19762784|PMID:19768174|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20538126|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21147780|PMID:21376320|PMID:21502677|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22344438|PMID:22417841|PMID:22683120|PMID:22875854|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23298392|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23555291|PMID:23663650|PMID:23680767|PMID:23726366|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24115837|PMID:24252255|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24785115|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25525159|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:25985138|PMID:26020417|PMID:26036859|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26343872|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26586530|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26902539|PMID:26937405|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27422940|PMID:27516387|PMID:27765764|PMID:27896130|PMID:27919364|PMID:27998977|PMID:28008010|PMID:28166811|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28521186|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29192238|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29399563|PMID:29438441|PMID:29459468|PMID:29572815|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29982529|PMID:29997226|PMID:30146126|PMID:30241732|PMID:30270359|PMID:30293936|PMID:30487145|PMID:30526649|PMID:30710474|PMID:30726226|PMID:30779729|PMID:30795984|PMID:30899674|PMID:30971288|PMID:31106297|PMID:31217584|PMID:31353810|PMID:31386798|PMID:31419281|PMID:31491741|PMID:31518966|PMID:31589614|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32226016|PMID:32640185|PMID:32719484|PMID:33091218|PMID:33111339|PMID:33147992|PMID:33173529|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34297352|PMID:34341098|PMID:34407635|PMID:34521694|PMID:34526433|PMID:34573395|PMID:34739847|PMID:34782856|PMID:35177841|PMID:35910211|PMID:35929461|PMID:36187800|PMID:36499307|PMID:36752612 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:13810 familial hypercholesterolemia ISO RGD:731023 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10357843|PMID:10764678|PMID:11668641|PMID:11941481|PMID:12175777|PMID:12730697|PMID:14727156|PMID:14727179|PMID:15099351|PMID:15166014|PMID:15358785|PMID:15654334|PMID:15772090|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16224054|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16777760|PMID:16909389|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17435765|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17765246|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18028451|PMID:18039650|PMID:18197702|PMID:18250299|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18436227|PMID:18559913|PMID:18631360|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19571328|PMID:19762784|PMID:19768174|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20538126|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21147780|PMID:2120714|PMID:21376320|PMID:21502677|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22344438|PMID:22417841|PMID:2246507|PMID:22683120|PMID:22875854|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23283366|PMID:23298392|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23555291|PMID:23663650|PMID:23680767|PMID:23726366|PMID:23743349|PMID:23935525|PMID:23997648|PMID:24033266|PMID:24115837|PMID:24252255|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24785115|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25525159|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:25985138|PMID:26020417|PMID:26036859|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26343872|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26586530|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26902539|PMID:26911352|PMID:26937405|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27422940|PMID:27516387|PMID:27575716|PMID:27765764|PMID:27896130|PMID:27919364|PMID:27998977|PMID:28008010|PMID:28166811|PMID:28179607|PMID:28235710|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28521186|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29192238|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29399563|PMID:29438441|PMID:29459468|PMID:29572815|PMID:29593013|PMID:29724976|PMID:29728531|PMID:29748315|PMID:29802317|PMID:29982529|PMID:29997226|PMID:30146126|PMID:30241732|PMID:30270359|PMID:30293936|PMID:30487145|PMID:30526649|PMID:30710474|PMID:30726226|PMID:30779729|PMID:30795984|PMID:30827231|PMID:30899674|PMID:30971288|PMID:31106297|PMID:31217584|PMID:31353810|PMID:31386798|PMID:31419281|PMID:31491741|PMID:31518966|PMID:31553664|PMID:31589614|PMID:31893465|PMID:31949048|PMID:31993549|PMID:32009526|PMID:32044282|PMID:32058034|PMID:32226016|PMID:32640185|PMID:32660911|PMID:32719484|PMID:32770674|PMID:33091218|PMID:33111339|PMID:33147992|PMID:33173529|PMID:33217533|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33533259|PMID:33642439|PMID:33740630|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34135346|PMID:34297352|PMID:34341098|PMID:34407635|PMID:34456200|PMID:34521694|PMID:34526433|PMID:34573395|PMID:34739847|PMID:34782856|PMID:34948399|PMID:35047021|PMID:35137788|PMID:35177841|PMID:35470684|PMID:35910211|PMID:35913489|PMID:35929461|PMID:36087353|PMID:36142332|PMID:36187800|PMID:36329474|PMID:36499307|PMID:36752612|PMID:36834740|PMID:37469559 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:1390 hypobetalipoproteinemia ISO RGD:731023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18559913|PMID:18710658|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21943799|PMID:22095935|PMID:22923420|PMID:23095242|PMID:23105118|PMID:23375686|PMID:23386946|PMID:23663650|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24785115|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26802169|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29438441|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29997226|PMID:30241732|PMID:30270359|PMID:30293936|PMID:30971288|PMID:31106297|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35929461 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:1390 hypobetalipoproteinemia ISO RGD:731023 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18559913|PMID:18710658|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21943799|PMID:22095935|PMID:22923420|PMID:23095242|PMID:23105118|PMID:23375686|PMID:23386946|PMID:23663650|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24785115|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26802169|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29438441|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29997226|PMID:30241732|PMID:30270359|PMID:30293936|PMID:30971288|PMID:31106297|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35910211|PMID:35929461|PMID:36187800 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:1390 hypobetalipoproteinemia ISO RGD:731023 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18559913|PMID:18710658|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21943799|PMID:22095935|PMID:22923420|PMID:23105118|PMID:23375686|PMID:23386946|PMID:23663650|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24785115|PMID:24808179|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26802169|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28302345|PMID:28323660|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28965616|PMID:28994502|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29438441|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29748315|PMID:29997226|PMID:30270359|PMID:30293936|PMID:30971288|PMID:31106297|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35910211|PMID:35929461|PMID:36187800 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:1390 hypobetalipoproteinemia ISO RGD:731023 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:11668641|PMID:11941481|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18559913|PMID:18710658|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21943799|PMID:22095935|PMID:22923420|PMID:23105118|PMID:23375686|PMID:23386946|PMID:23663650|PMID:23726366|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24252255|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24785115|PMID:24808179|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26802169|PMID:26902539|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28302345|PMID:28323660|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28965616|PMID:28994502|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29438441|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29728531|PMID:29748315|PMID:29997226|PMID:30146126|PMID:30270359|PMID:30293936|PMID:30710474|PMID:30971288|PMID:31106297|PMID:31491741|PMID:31893465|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:32770674|PMID:33091218|PMID:33147992|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33533259|PMID:34074024|PMID:34297352|PMID:34341098|PMID:34521694|PMID:34526433|PMID:35047021|PMID:35910211|PMID:35913489|PMID:35929461|PMID:36087353|PMID:36187800|PMID:36834740|PMID:37469559 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:3393 coronary artery disease ISO RGD:731023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:27135400 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:630 genetic disease ISO RGD:731023 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20538126|PMID:22683120|PMID:24115837|PMID:25412415|PMID:25741868|PMID:26195630|PMID:26374825|PMID:27516387|PMID:27998977|PMID:28492532|PMID:29259136|PMID:30146126|PMID:30971288|PMID:34526433|PMID:34948399|PMID:36499307 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:731023 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutations:cds:p.R46L, p.Y142X, p.C679X (human) PMID:16554528|REF_RGD_ID:1581000 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9000808 Hypercholesterolemia ISO RGD:731023 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:16183066|PMID:16571601|PMID:16912035|PMID:17380167|PMID:17765244|PMID:19081568|PMID:19191301|PMID:23375686|PMID:24033266|PMID:24808179|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27206942|PMID:27280970|PMID:28008010|PMID:28492532|PMID:28777095|PMID:28994502|PMID:29259136|PMID:29724976|PMID:30293936|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33533259|PMID:34521694|PMID:34526433|PMID:35929461|PMID:36087353|PMID:37469559 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9002189 High Myopia ISO RGD:731023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:25741868 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:731023 D RGD:7240710 20180130 OMIM 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:731023 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 3 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:10357843|PMID:10764678|PMID:11668641|PMID:11941481|PMID:12175777|PMID:12730697|PMID:14727156|PMID:14727179|PMID:15099351|PMID:15166014|PMID:15358785|PMID:15654334|PMID:15772090|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16224054|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16777760|PMID:16909389|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17435765|PMID:17461796|PMID:17502126|PMID:17576681|PMID:17765244|PMID:17765246|PMID:17804797|PMID:17921436|PMID:17971861|PMID:18028451|PMID:18039650|PMID:18197702|PMID:18250299|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18436227|PMID:18559913|PMID:18631360|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19249440|PMID:19351729|PMID:19571328|PMID:19762784|PMID:19768174|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20538126|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21147780|PMID:2120714|PMID:21376320|PMID:21502677|PMID:21813713|PMID:21943799|PMID:22095935|PMID:22344438|PMID:22417841|PMID:2246507|PMID:22683120|PMID:22875854|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23283366|PMID:23298392|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23555291|PMID:23663650|PMID:23680767|PMID:23726366|PMID:23743349|PMID:23935525|PMID:23997648|PMID:24033266|PMID:24115837|PMID:24252255|PMID:24278757|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24785115|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25525159|PMID:25600226|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:25985138|PMID:26020417|PMID:26036859|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26343872|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26586530|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26902539|PMID:26911352|PMID:26937405|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27422940|PMID:27516387|PMID:27575716|PMID:27765764|PMID:27896130|PMID:27919364|PMID:27998977|PMID:28008010|PMID:28166811|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28521186|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29192238|PMID:29259136|PMID:29261184|PMID:29399563|PMID:29438441|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29728531|PMID:29748315|PMID:29802317|PMID:29982529|PMID:29997226|PMID:30146126|PMID:30241732|PMID:30269829|PMID:30270359|PMID:30293936|PMID:30487145|PMID:30526649|PMID:30710474|PMID:30726226|PMID:30779729|PMID:30795984|PMID:30899674|PMID:30971288|PMID:31106297|PMID:31217584|PMID:31353810|PMID:31386798|PMID:31419281|PMID:31491741|PMID:31518966|PMID:31553664|PMID:31589614|PMID:31893465|PMID:31949048|PMID:31993549|PMID:32009526|PMID:32044282|PMID:32058034|PMID:32226016|PMID:32640185|PMID:32660911|PMID:32719484|PMID:32770674|PMID:33091218|PMID:33147992|PMID:33173529|PMID:33211673|PMID:33217533|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33533259|PMID:33642439|PMID:33740630|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34135346|PMID:34297352|PMID:34341098|PMID:34407635|PMID:34456200|PMID:34521694|PMID:34526433|PMID:34573395|PMID:34739847|PMID:34782856|PMID:34948399|PMID:35047021|PMID:35137788|PMID:35177841|PMID:35910211|PMID:35913489|PMID:35929461|PMID:36087353|PMID:36142332|PMID:36187800|PMID:36499307|PMID:36752612|PMID:36834740|PMID:37469559|PMID:800756|PMID:9536098 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:11668641|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23663650|PMID:23680767|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24507774|PMID:24507775|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29982529|PMID:29997226|PMID:30241732|PMID:30293936|PMID:30526649|PMID:30779729|PMID:31106297|PMID:31491741|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34521694|PMID:34526433|PMID:35929461 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:731023 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:11668641|PMID:11941481|PMID:12175777|PMID:12730697|PMID:14727156|PMID:15358785|PMID:15654334|PMID:15893176|PMID:16183066|PMID:16211558|PMID:16314194|PMID:16424354|PMID:16465619|PMID:16554528|PMID:16571601|PMID:16912035|PMID:17094996|PMID:17140581|PMID:17170371|PMID:17316651|PMID:17380167|PMID:17461796|PMID:17502126|PMID:17765244|PMID:17804797|PMID:17971861|PMID:18197702|PMID:18262190|PMID:18266662|PMID:18300938|PMID:18354102|PMID:18710658|PMID:18718593|PMID:18799458|PMID:19001363|PMID:19022446|PMID:19081568|PMID:19191301|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20006333|PMID:20031607|PMID:20172854|PMID:20579540|PMID:20623344|PMID:20959675|PMID:21146822|PMID:21722902|PMID:21943799|PMID:22095935|PMID:22923420|PMID:22995991|PMID:23064986|PMID:23095242|PMID:23105118|PMID:23247049|PMID:23375686|PMID:23386946|PMID:23535506|PMID:23663650|PMID:23680767|PMID:23726366|PMID:23743349|PMID:23935525|PMID:24033266|PMID:24252255|PMID:24507774|PMID:24507775|PMID:24793346|PMID:24808179|PMID:24859021|PMID:25014035|PMID:25046268|PMID:25278291|PMID:25412415|PMID:25741868|PMID:25744035|PMID:25904937|PMID:25962062|PMID:26020417|PMID:26049403|PMID:26195630|PMID:26332594|PMID:26374825|PMID:26467025|PMID:26541928|PMID:26546829|PMID:26632531|PMID:26633542|PMID:26636822|PMID:26688439|PMID:26902539|PMID:26911352|PMID:26937405|PMID:27135400|PMID:27206942|PMID:27218270|PMID:27280970|PMID:27516387|PMID:27765764|PMID:27919364|PMID:28008010|PMID:28179607|PMID:28302345|PMID:28323660|PMID:28349888|PMID:28360401|PMID:28438747|PMID:28492532|PMID:28587771|PMID:28768753|PMID:28777095|PMID:28784313|PMID:28965616|PMID:28994502|PMID:29036232|PMID:29083407|PMID:29127338|PMID:29259136|PMID:29261184|PMID:29386597|PMID:29459468|PMID:29593013|PMID:29724976|PMID:29802317|PMID:29982529|PMID:29997226|PMID:30241732|PMID:30293936|PMID:30526649|PMID:30710474|PMID:30779729|PMID:30971288|PMID:31106297|PMID:31491741|PMID:31589614|PMID:31893465|PMID:31949048|PMID:31993549|PMID:32044282|PMID:32058034|PMID:32719484|PMID:32770674|PMID:33091218|PMID:33147992|PMID:33231818|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33533259|PMID:33955087|PMID:34037665|PMID:34074024|PMID:34297352|PMID:34407635|PMID:34521694|PMID:34526433|PMID:34948399|PMID:35047021|PMID:35910211|PMID:35929461|PMID:36087353|PMID:36499307|PMID:37469559 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9005519 Hyperlipoproteinemia Type II severity ISO RGD:731023 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D374Y (human) PMID:15772090|REF_RGD_ID:1581001 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:731024 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8887471 Pcsk9 proprotein convertase subtilisin/kexin type 9 gene DOID:9007751 Hypocholesterolemia ISO RGD:731023 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypocholesterolemia PMID:11941481|PMID:15654334|PMID:16424354|PMID:16554528|PMID:16571601|PMID:18354102|PMID:19351729|PMID:19797716|PMID:19917273|PMID:20031607|PMID:20579540|PMID:22875854|PMID:23743349|PMID:24507774|PMID:25278291|PMID:25412415|PMID:25741868|PMID:26049403|PMID:26467025|PMID:27135400|PMID:27218270|PMID:27280970|PMID:27765764|PMID:28492532|PMID:28768753|PMID:28965616|PMID:29083407|PMID:29261184|PMID:29997226|PMID:30726226|PMID:30899674|PMID:31217584|PMID:32226016|PMID:33091218 8887487 Trabd TraB domain containing gene DOID:0060041 autism spectrum disorder ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8887487 Trabd TraB domain containing gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1601961 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8887487 Trabd TraB domain containing gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8887487 Trabd TraB domain containing gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8887487 Trabd TraB domain containing gene DOID:10581 metachromatic leukodystrophy ISO RGD:1601961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8887487 Trabd TraB domain containing gene DOID:1059 intellectual disability ISO RGD:1601961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8887487 Trabd TraB domain containing gene DOID:630 genetic disease ISO RGD:1601961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887516 Plpp6 phospholipid phosphatase 6 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1606068 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8887516 Plpp6 phospholipid phosphatase 6 gene DOID:630 genetic disease ISO RGD:1606068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887520 Nt5m 5',3'-nucleotidase, mitochondrial gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1320058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8887520 Nt5m 5',3'-nucleotidase, mitochondrial gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1320058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8887520 Nt5m 5',3'-nucleotidase, mitochondrial gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1320058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8887520 Nt5m 5',3'-nucleotidase, mitochondrial gene DOID:0110980 Joubert syndrome 1 ISO RGD:1320058 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8887520 Nt5m 5',3'-nucleotidase, mitochondrial gene DOID:12849 autistic disorder ISO RGD:1320058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8887520 Nt5m 5',3'-nucleotidase, mitochondrial gene DOID:630 genetic disease ISO RGD:1320058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887529 Znf585a zinc finger protein 585A gene DOID:630 genetic disease ISO RGD:1604726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887541 Ctdp1 CTD phosphatase subunit 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323374 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8887541 Ctdp1 CTD phosphatase subunit 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1323374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8887541 Ctdp1 CTD phosphatase subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1323374 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14517542|PMID:15322984|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:28492532|PMID:29174527 8887541 Ctdp1 CTD phosphatase subunit 1 gene DOID:630 genetic disease ISO RGD:1323374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8887541 Ctdp1 CTD phosphatase subunit 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1323374 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8887541 Ctdp1 CTD phosphatase subunit 1 gene DOID:8445 intestinal volvulus ISO RGD:1323374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8887541 Ctdp1 CTD phosphatase subunit 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1323374 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8887541 Ctdp1 CTD phosphatase subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8887541 Ctdp1 CTD phosphatase subunit 1 gene DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy ISO RGD:1323374 D RGD:7240710 20180130 OMIM 8887541 Ctdp1 CTD phosphatase subunit 1 gene DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy ISO RGD:1323374 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy PMID:14517542|PMID:15322984|PMID:16194727|PMID:20301787|PMID:23408394|PMID:24690360|PMID:25741868|PMID:28492532|PMID:29174527 8887541 Ctdp1 CTD phosphatase subunit 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8887566 Dhx15 DEAH-box helicase 15 gene DOID:1826 epilepsy ISO RGD:1317633 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8887566 Dhx15 DEAH-box helicase 15 gene DOID:630 genetic disease ISO RGD:1317633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887566 Dhx15 DEAH-box helicase 15 gene DOID:9119 acute myeloid leukemia ISO RGD:1317633 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625|PMID:29163777 8887584 Lrtm2 leucine rich repeats and transmembrane domains 2 gene DOID:630 genetic disease ISO RGD:1605448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887584 Lrtm2 leucine rich repeats and transmembrane domains 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1605448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8887608 Hoxc4 homeobox C4 gene DOID:10485 esophageal atresia ISO RGD:1558279 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:17211587|REF_RGD_ID:10402180 8887608 Hoxc4 homeobox C4 gene DOID:630 genetic disease ISO RGD:1351931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887608 Hoxc4 homeobox C4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8887629 Tbc1d12 TBC1 domain family member 12 gene DOID:630 genetic disease ISO RGD:1343312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887647 Cul7 cullin 7 gene DOID:0050444 infantile Refsum disease ISO RGD:1314380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8887647 Cul7 cullin 7 gene DOID:0060241 3-M syndrome ISO RGD:1314380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: Yakut short stature syndrome PMID:16142236|PMID:17675530|PMID:19225462|PMID:21396581|PMID:21548126|PMID:23018678|PMID:23900270|PMID:24793695|PMID:24793696|PMID:25741868|PMID:28492532|PMID:28969986|PMID:31343991|PMID:31589614|PMID:34006472 8887647 Cul7 cullin 7 gene DOID:12849 autistic disorder ISO RGD:1314380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25961944 8887647 Cul7 cullin 7 gene DOID:4450 renal cell carcinoma ISO RGD:1314380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8887647 Cul7 cullin 7 gene DOID:630 genetic disease ISO RGD:1314380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16142236|PMID:16199547|PMID:17675530|PMID:19225462|PMID:21396581|PMID:25741868|PMID:28492532 8887647 Cul7 cullin 7 gene DOID:9005349 Three M Syndrome 1 ISO RGD:1314380 D RGD:7240710 20190327 OMIM 8887647 Cul7 cullin 7 gene DOID:9005349 Three M Syndrome 1 ISO RGD:1314380 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 | ClinVar Annotator: match by term: CUL7-related condition PMID:16142236|PMID:17675530|PMID:19225462|PMID:21383554|PMID:21396581|PMID:22325252|PMID:23018678|PMID:23900270|PMID:24793695|PMID:24793696|PMID:25741868|PMID:27182040|PMID:28492532|PMID:28969986|PMID:30980518|PMID:31343991|PMID:31589614|PMID:34006472 8887647 Cul7 cullin 7 gene DOID:9007661 Dwarfism ISO RGD:1314380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532 8887647 Cul7 cullin 7 gene DOID:905 Zellweger syndrome ISO RGD:1314380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8887681 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 8887681 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:1059 intellectual disability ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 8887681 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:10907 microcephaly ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8887681 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:736641 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 8887681 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9000345 Periventricular Laminar Heterotopia ISO RGD:736641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Periventricular laminar heterotopia PMID:28492532 8887681 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:736641 D RGD:7240710 20180130 OMIM 8887681 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive PMID:12682315|PMID:14647276|PMID:17576681|PMID:18414213|PMID:23812912|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:9536098 8887681 Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:0050473 Alstrom syndrome ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:25741868|PMID:28492532 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1606461 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1606461 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias ISO RGD:1606461 D RGD:7240710 20190315 OMIM 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias ISO RGD:1606461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION | ClinVar Annotator: match by term: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | ClinVar Annotator: match by term: TANGO2-related condition PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26805781|PMID:26805782|PMID:27711071|PMID:28492532|PMID:29369572|PMID:30245509|PMID:30650451|PMID:31276219|PMID:31339582|PMID:32573669|PMID:32576985|PMID:32929747|PMID:9536098 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:0111996 immunodeficiency 51 ISO RGD:1606461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:1059 intellectual disability ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:16199547|PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29369572|PMID:30650451|PMID:32576985 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1606461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:11372 megacolon ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:12583 velocardiofacial syndrome ISO RGD:1606461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:12849 autistic disorder ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:1826 epilepsy ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:16199547|PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29369572|PMID:30650451|PMID:32576985 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:2213 hemorrhagic disease ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:5419 schizophrenia ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:612 primary immunodeficiency disease ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:630 genetic disease ISO RGD:1606461 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26805781|PMID:28492532 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16199547|PMID:25741868|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29369572|PMID:30650451|PMID:32576985 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:9003871 Venous Thrombosis ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1606461 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8887735 Tango2 transport and golgi organization 2 homolog gene DOID:963 episodic ataxia ISO RGD:1606461 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia PMID:32581362 8887770 Kcnip4 potassium voltage-gated channel interacting protein 4 gene DOID:630 genetic disease ISO RGD:733209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:0060180 colitis ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:0090114 Sorsby's fundus dystrophy ISO RGD:735741 D RGD:7240710 20180130 OMIM 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:0090114 Sorsby's fundus dystrophy ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sorsby fundus dystrophy PMID:10854443|PMID:25741868|PMID:27601084|PMID:28492532|PMID:31415707|PMID:7148944|PMID:7894485|PMID:8634721|PMID:8639088|PMID:8919688|PMID:8981947 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:15928670|REF_RGD_ID:2290417 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:11054 urinary bladder cancer ISO RGD:735741 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18082200|REF_RGD_ID:2290411 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:11446 sciatic neuropathy ISO RGD:3865 D RGD:9068941 20220421 RGD RNA:decreased expression:dorsal root ganglion neuron PMID:25484256|REF_RGD_ID:151893491 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:11419 D RGD:9068941 20220825 MouseDO 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:1395 schistosomiasis ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:735741 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:1612 breast cancer disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD PMID:16256342|REF_RGD_ID:2290416 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:2006 preretinal fibrosis ISO RGD:735741 D RGD:9068941 20200609 RGD PMID:11004090|REF_RGD_ID:2312481 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:2841 asthma ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16926187 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:3459 breast carcinoma ISO RGD:735741 D RGD:9068941 20200609 RGD associated with Tumor Virus Infections;DNA:hypermethylation:promoter PMID:18205041|REF_RGD_ID:2290409 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17032447|REF_RGD_ID:2290413 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:3594 choriocarcinoma ISO RGD:735741 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, placenta PMID:15507671|REF_RGD_ID:2290418 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:3602 toxic encephalopathy ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:365 bladder disease ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23527093 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735741 D RGD:9068941 20220421 RGD PMID:30233216|REF_RGD_ID:151708743 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:735741 D RGD:9068941 20220812 RGD mRNA:decreased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:409 liver disease ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:4448 macular degeneration ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691988 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:4450 renal cell carcinoma ISO RGD:735741 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11576837|REF_RGD_ID:2290421 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:630 genetic disease ISO RGD:735741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:8501 fundus dystrophy ISO RGD:735741 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23023527|PMID:26493035|PMID:27601084|PMID:28492532|PMID:28559085|PMID:35679059 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735741 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:12828172|REF_RGD_ID:2290437 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:735741 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15217927|REF_RGD_ID:2290419 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9002498 Wallerian Degeneration ISO RGD:3865 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:16683235|REF_RGD_ID:1600154 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9002525 Hereditary Eye Diseases susceptibility ISO RGD:735741 D RGD:9068941 20200609 RGD protein:mutation: ; Y172C; Sorsby fundus dystrophy, OMIM:136900 PMID:9400791|REF_RGD_ID:1600153 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17009974|REF_RGD_ID:2290414 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3865 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:15878627|REF_RGD_ID:1559178 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735741 D RGD:9068941 20200609 RGD PMID:17976707|REF_RGD_ID:2290412 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735741 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16736496|REF_RGD_ID:2290415 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9003601 Pseudoinflammatory Fundus Dystrophy, Finnish Type ISO RGD:735741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form PMID:25741868|PMID:28492532 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9004009 Reperfusion Injury ISO RGD:3865 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:17551674|REF_RGD_ID:2290424 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735741 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23109338 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11419 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:8840279|REF_RGD_ID:2312482 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9005930 Endotoxemia ISO RGD:3865 D RGD:9068941 20200609 RGD PMID:17083784|REF_RGD_ID:2290426 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:735741 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12798711|REF_RGD_ID:2290420 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9008763 Femoral Fractures disease_progression ISO RGD:3865 D RGD:9068941 20220421 RGD PMID:31691506|REF_RGD_ID:151893486 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735741 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:19633828|REF_RGD_ID:2312470 8887793 Timp3 TIMP metallopeptidase inhibitor 3 gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:3865 D RGD:9068941 20220421 RGD associated with Femoral Fractures; PMID:31691506|REF_RGD_ID:151893486 8887810 Trrap transformation/transcription domain associated protein gene DOID:0112166 autosomal dominant nonsyndromic deafness 75 ISO RGD:1313479 D RGD:7240710 20200226 OMIM 8887810 Trrap transformation/transcription domain associated protein gene DOID:0112166 autosomal dominant nonsyndromic deafness 75 ISO RGD:1313479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 75 PMID:25741868|PMID:28492532|PMID:31231791 8887810 Trrap transformation/transcription domain associated protein gene DOID:10283 prostate cancer ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8887810 Trrap transformation/transcription domain associated protein gene DOID:12849 autistic disorder ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8887810 Trrap transformation/transcription domain associated protein gene DOID:1909 melanoma ISO RGD:1313479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 8887810 Trrap transformation/transcription domain associated protein gene DOID:3307 teratoma ISO RGD:1313479 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8887810 Trrap transformation/transcription domain associated protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8887810 Trrap transformation/transcription domain associated protein gene DOID:5419 schizophrenia ISO RGD:1313479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266|PMID:23042115 8887810 Trrap transformation/transcription domain associated protein gene DOID:630 genetic disease ISO RGD:1313479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30827496 8887810 Trrap transformation/transcription domain associated protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8887810 Trrap transformation/transcription domain associated protein gene DOID:9008086 Developmental Disabilities ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741898 8887810 Trrap transformation/transcription domain associated protein gene DOID:9008582 Developmental Disease ISO RGD:1313479 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 8887810 Trrap transformation/transcription domain associated protein gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:1313479 D RGD:7240710 20190911 OMIM 8887810 Trrap transformation/transcription domain associated protein gene DOID:9009182 Developmental Delay with or without Dysmorphic Facies and Autism ISO RGD:1313479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: TRRAP-Related Disorder | ClinVar Annotator: match by term: TRRAP-related condition PMID:25741868|PMID:28492532|PMID:30424743|PMID:30827496 8887911 Hlx H2.0 like homeobox gene DOID:0050439 Usher syndrome ISO RGD:1323685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 8887911 Hlx H2.0 like homeobox gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1323685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8887911 Hlx H2.0 like homeobox gene DOID:1540 parathyroid carcinoma ISO RGD:1323685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8887911 Hlx H2.0 like homeobox gene DOID:630 genetic disease ISO RGD:1323685 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8887911 Hlx H2.0 like homeobox gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8887929 Cd3e CD3e molecule gene DOID:0060017 CD3epsilon deficiency ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8887929 Cd3e CD3e molecule gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1319442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8887929 Cd3e CD3e molecule gene DOID:0080690 RASopathy ISO RGD:1319442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8887929 Cd3e CD3e molecule gene DOID:0081330 glycogen storage disease Ib ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8887929 Cd3e CD3e molecule gene DOID:0110651 long QT syndrome 10 ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8887929 Cd3e CD3e molecule gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8887929 Cd3e CD3e molecule gene DOID:0111971 immunodeficiency 18 ISO RGD:1319442 D RGD:7240710 20180130 OMIM 8887929 Cd3e CD3e molecule gene DOID:0111971 immunodeficiency 18 ISO RGD:1319442 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 | ClinVar Annotator: match by term: Immunodeficiency 18, scid variant PMID:1370449|PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:1676369|PMID:17277165|PMID:17576681|PMID:24033266|PMID:24216686|PMID:24515816|PMID:24910257|PMID:25373860|PMID:25741868|PMID:26822028|PMID:28492532|PMID:8490660|PMID:9536098|PMID:9843989 8887929 Cd3e CD3e molecule gene DOID:0111972 immunodeficiency 19 ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8887929 Cd3e CD3e molecule gene DOID:0111973 immunodeficiency 17 ISO RGD:1319442 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8887929 Cd3e CD3e molecule gene DOID:1059 intellectual disability ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8887929 Cd3e CD3e molecule gene DOID:2945 severe acute respiratory syndrome ISO RGD:1319442 D RGD:9068941 20200609 RGD protein:increased expression:Tcell, testis (human) PMID:16237152|REF_RGD_ID:27372876 8887929 Cd3e CD3e molecule gene DOID:612 primary immunodeficiency disease ISO RGD:1319442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8490660 8887929 Cd3e CD3e molecule gene DOID:627 severe combined immunodeficiency ISO RGD:1319442 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:15546002|PMID:25741868|PMID:28492532|PMID:33628209|PMID:8490660 8887929 Cd3e CD3e molecule gene DOID:630 genetic disease ISO RGD:1319442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8887929 Cd3e CD3e molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1319442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 8887929 Cd3e CD3e molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8887929 Cd3e CD3e molecule gene DOID:9005372 Inflammation ISO RGD:1319442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 8887929 Cd3e CD3e molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1319443 D RGD:9068941 20200609 RGD PMID:16628253|REF_RGD_ID:2314179 8887929 Cd3e CD3e molecule gene DOID:9007661 Dwarfism ISO RGD:1319442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8887929 Cd3e CD3e molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1321639 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:0080006 bone development disease ISO RGD:1321639 D RGD:9068941 20200609 RGD familial expansile osteolysis, OMIM:174810 PMID:10615125|REF_RGD_ID:1599463 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:0081365 Paget's disease of bone 2 ISO RGD:1321639 D RGD:7240710 20190327 OMIM 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:0081365 Paget's disease of bone 2 ISO RGD:1321639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paget disease of bone 2 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset PMID:10615125|PMID:11771666|PMID:12568416|PMID:17447113|PMID:17576681|PMID:21472776|PMID:25063546|PMID:25741868|PMID:28492532|PMID:31923705|PMID:9536098 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:0110946 autosomal recessive osteopetrosis 7 ISO RGD:1321639 D RGD:7240710 20180130 OMIM 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:0110946 autosomal recessive osteopetrosis 7 ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 PMID:15231021|PMID:17576681|PMID:18606301|PMID:19940926|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:0111542 familial expansile osteolysis ISO RGD:1321639 D RGD:7240710 20180130 OMIM 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:0111542 familial expansile osteolysis ISO RGD:1321639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial expansile osteolysis PMID:10615125|PMID:12362049|PMID:12568416|PMID:17447113|PMID:21472776|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7911698 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:10534 stomach cancer severity ISO RGD:1321639 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:11476 osteoporosis ISO RGD:1321639 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:13533 osteopetrosis ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:24033266|PMID:25741868|PMID:28492532 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:4254 osteosclerosis ISO RGD:1321639 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:24033266|PMID:25741868|PMID:28492532 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:5408 Paget's disease of bone ISO RGD:1321639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone Paget disease | ClinVar Annotator: match by term: Paget disease of bone PMID:24033266|PMID:25741868|PMID:28492532 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:630 genetic disease ISO RGD:1321639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:820 myocarditis ISO RGD:1563614 D RGD:9068941 20200609 RGD associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium PMID:18417124|REF_RGD_ID:2302361 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:1563614 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:9000965 Neoplasm Metastasis ISO RGD:1321639 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:increased expression:bone, lymph node PMID:16752412|REF_RGD_ID:2302322 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:9001547 Tibial Fractures ISO RGD:1563614 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18592139|REF_RGD_ID:2302324 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1321639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16270354 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321640 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18317887|REF_RGD_ID:2291908 8887943 Tnfrsf11a TNF receptor superfamily member 11a gene DOID:9005372 Inflammation ISO RGD:1321639 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:18248671|REF_RGD_ID:2302321 8887962 Dna2 DNA replication helicase/nuclease 2 gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1315606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:24389050|PMID:25558065 8887962 Dna2 DNA replication helicase/nuclease 2 gene DOID:0070009 Seckel syndrome 8 ISO RGD:1315606 D RGD:7240710 20180130 OMIM 8887962 Dna2 DNA replication helicase/nuclease 2 gene DOID:0070009 Seckel syndrome 8 ISO RGD:1315606 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seckel syndrome 8 PMID:24389050|PMID:25558065|PMID:25741868|PMID:28492532 8887962 Dna2 DNA replication helicase/nuclease 2 gene DOID:0081337 congenital myopathy ISO RGD:1315606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:25741868 8887962 Dna2 DNA replication helicase/nuclease 2 gene DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 ISO RGD:1315606 D RGD:7240710 20180130 OMIM 8887962 Dna2 DNA replication helicase/nuclease 2 gene DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 ISO RGD:1315606 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy PMID:23352259|PMID:25741868|PMID:28492532|PMID:31478350 8887962 Dna2 DNA replication helicase/nuclease 2 gene DOID:10907 microcephaly ISO RGD:1315606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8887962 Dna2 DNA replication helicase/nuclease 2 gene DOID:2732 Rothmund-Thomson syndrome ISO RGD:1315606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome PMID:25741868 8887962 Dna2 DNA replication helicase/nuclease 2 gene DOID:2843 long QT syndrome ISO RGD:1315606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8887962 Dna2 DNA replication helicase/nuclease 2 gene DOID:630 genetic disease ISO RGD:1315606 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25356970|PMID:25741868|PMID:28492532 8887962 Dna2 DNA replication helicase/nuclease 2 gene DOID:699 mitochondrial myopathy ISO RGD:1315606 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:23352259|REF_RGD_ID:10401079 8887992 Frmd4b FERM domain containing 4B gene DOID:0060224 atrial fibrillation ISO RGD:1348430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8887992 Frmd4b FERM domain containing 4B gene DOID:630 genetic disease ISO RGD:1348430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888036 Pofut1 protein O-fucosyltransferase 1 gene DOID:0060256 Dowling-Degos disease ISO RGD:1348314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8888036 Pofut1 protein O-fucosyltransferase 1 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1348314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 8888036 Pofut1 protein O-fucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888036 Pofut1 protein O-fucosyltransferase 1 gene DOID:9006393 Dowling-Degos Disease 2 ISO RGD:1348314 D RGD:7240710 20180130 OMIM 8888036 Pofut1 protein O-fucosyltransferase 1 gene DOID:9006393 Dowling-Degos Disease 2 ISO RGD:1348314 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 2 PMID:23684010|PMID:25229252|PMID:25741868|PMID:28492532|PMID:31566882 8888053 S100a5 S100 calcium binding protein A5 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8888053 S100a5 S100 calcium binding protein A5 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8888053 S100a5 S100 calcium binding protein A5 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8888053 S100a5 S100 calcium binding protein A5 gene DOID:1540 parathyroid carcinoma ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8888053 S100a5 S100 calcium binding protein A5 gene DOID:3525 middle cerebral artery infarction ISO RGD:1319090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 8888053 S100a5 S100 calcium binding protein A5 gene DOID:5812 MHC class II deficiency ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8888053 S100a5 S100 calcium binding protein A5 gene DOID:630 genetic disease ISO RGD:1319090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888053 S100a5 S100 calcium binding protein A5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8888068 Sccpdh saccharopine dehydrogenase (putative) gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8888068 Sccpdh saccharopine dehydrogenase (putative) gene DOID:1540 parathyroid carcinoma ISO RGD:1606286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8888068 Sccpdh saccharopine dehydrogenase (putative) gene DOID:630 genetic disease ISO RGD:1606286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888068 Sccpdh saccharopine dehydrogenase (putative) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8888084 Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1346736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 2 8888084 Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1346736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 8888084 Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:11372 megacolon ISO RGD:1346736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8888084 Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:2843 long QT syndrome ISO RGD:1346736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8888084 Galnt11 polypeptide N-acetylgalactosaminyltransferase 11 gene DOID:630 genetic disease ISO RGD:1346736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888099 Capza3 capping actin protein of muscle Z-line subunit alpha 3 gene DOID:12336 male infertility ISO RGD:1353508 D RGD:9068941 20200609 RGD mRNA:decreased expression:semen PMID:27114798|REF_RGD_ID:18899565 8888099 Capza3 capping actin protein of muscle Z-line subunit alpha 3 gene DOID:12336 male infertility ISO RGD:736848 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.M44K (human) PMID:19341723|REF_RGD_ID:19165126 8888099 Capza3 capping actin protein of muscle Z-line subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1353508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888104 Plxnd1 plexin D1 gene DOID:0060165 Kleine-Levin syndrome ISO RGD:1321904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleine-Levin syndrome PMID:28492532 8888104 Plxnd1 plexin D1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1321904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8888104 Plxnd1 plexin D1 gene DOID:11198 DiGeorge syndrome ISO RGD:1553585 D RGD:9068941 20220825 MouseDO OMIM:188400 8888104 Plxnd1 plexin D1 gene DOID:13501 Moebius syndrome ISO RGD:1321904 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum PMID:25741868 8888104 Plxnd1 plexin D1 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1310796 D RGD:9068941 20221117 RGD PMID:30653356|REF_RGD_ID:155663383 8888104 Plxnd1 plexin D1 gene DOID:630 genetic disease ISO RGD:1321904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888104 Plxnd1 plexin D1 gene DOID:9006145 Congenital Heart Defects, Multiple Types, 9 ISO RGD:1321904 D RGD:7240710 20230505 OMIM 8888104 Plxnd1 plexin D1 gene DOID:9006145 Congenital Heart Defects, Multiple Types, 9 ISO RGD:1321904 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 9 PMID:2194395|PMID:24254849|PMID:25741868|PMID:35396997|PMID:8042678 8888104 Plxnd1 plexin D1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8888104 Plxnd1 plexin D1 gene DOID:9270 alkaptonuria ISO RGD:1321904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8888104 Plxnd1 plexin D1 gene DOID:9775 diastolic heart failure ISO RGD:1321904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8888144 LOC102012695 olfactory receptor 2Z1 gene DOID:10283 prostate cancer ISO RGD:1347587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8888144 LOC102012695 olfactory receptor 2Z1 gene DOID:12849 autistic disorder ISO RGD:1347587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8888144 LOC102012695 olfactory receptor 2Z1 gene DOID:630 genetic disease ISO RGD:1347587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888147 U2af2 U2 small nuclear RNA auxiliary factor 2 gene DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies ISO RGD:1321740 D RGD:7240710 20240124 OMIM 8888147 U2af2 U2 small nuclear RNA auxiliary factor 2 gene DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies ISO RGD:1321740 D RGD:8554872 20240123 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES PMID:28492532|PMID:34112922|PMID:36747105|PMID:37092751 8888147 U2af2 U2 small nuclear RNA auxiliary factor 2 gene DOID:10579 leukodystrophy ISO RGD:1321740 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Leukodystrophy 8888147 U2af2 U2 small nuclear RNA auxiliary factor 2 gene DOID:630 genetic disease ISO RGD:1321740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888147 U2af2 U2 small nuclear RNA auxiliary factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321740 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 8888168 LOC102013363 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:2298819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8888168 LOC102013363 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:0080118 mitochondrial complex III deficiency nuclear type 9 ISO RGD:2298819 D RGD:7240710 20180130 OMIM 8888168 LOC102013363 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:0080118 mitochondrial complex III deficiency nuclear type 9 ISO RGD:2298819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 9 PMID:25008109|PMID:25741868|PMID:28492532 8888168 LOC102013363 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:2298819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 8888168 LOC102013363 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2298819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8888168 LOC102013363 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:1059 intellectual disability ISO RGD:2298819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8888168 LOC102013363 ubiquinol-cytochrome-c reductase complex assembly factor 3 gene DOID:630 genetic disease ISO RGD:2298819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888180 Tti1 TELO2 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1605708 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:36724785 8888180 Tti1 TELO2 interacting protein 1 gene DOID:2234 focal epilepsy ISO RGD:1605708 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8888180 Tti1 TELO2 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888180 Tti1 TELO2 interacting protein 1 gene DOID:9007570 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES ISO RGD:1605708 D RGD:7240710 20230830 OMIM 8888180 Tti1 TELO2 interacting protein 1 gene DOID:9007570 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES ISO RGD:1605708 D RGD:8554872 20230905 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and movement abnormalities PMID:26539891|PMID:36724785 8888205 Chp2 calcineurin like EF-hand protein 2 gene DOID:630 genetic disease ISO RGD:1606515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888219 Phc3 polyhomeotic homolog 3 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1317513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 8888219 Phc3 polyhomeotic homolog 3 gene DOID:1062 Fanconi syndrome ISO RGD:1317513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8888219 Phc3 polyhomeotic homolog 3 gene DOID:630 genetic disease ISO RGD:1317513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888264 Fas Fas cell surface death receptor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:15148335|REF_RGD_ID:11049166 8888264 Fas Fas cell surface death receptor gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell: PMID:7513372|REF_RGD_ID:11049453 8888264 Fas Fas cell surface death receptor gene DOID:0050523 adult T-cell leukemia/lymphoma susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: -670 G>A(human) PMID:17962369|REF_RGD_ID:11049147 8888264 Fas Fas cell surface death receptor gene DOID:0050697 chorioamnionitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:villous trophoblast PMID:12700199|REF_RGD_ID:12904022 8888264 Fas Fas cell surface death receptor gene DOID:0050700 cardiomyopathy ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473|PMID:10920071|PMID:17943461 8888264 Fas Fas cell surface death receptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8888264 Fas Fas cell surface death receptor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bone marrow: PMID:9557605|REF_RGD_ID:11049447 8888264 Fas Fas cell surface death receptor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood mononuclear cell: PMID:15686130|REF_RGD_ID:11049448 8888264 Fas Fas cell surface death receptor gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8888264 Fas Fas cell surface death receptor gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:619831 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 8888264 Fas Fas cell surface death receptor gene DOID:0060108 brain glioma treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29324390|REF_RGD_ID:13792598 8888264 Fas Fas cell surface death receptor gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:15148335|REF_RGD_ID:11049166 8888264 Fas Fas cell surface death receptor gene DOID:0060704 lymphoproliferative syndrome susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:deletions PMID:7539157|REF_RGD_ID:1600310 8888264 Fas Fas cell surface death receptor gene DOID:0080162 lupus nephritis ISO RGD:1346266 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:33632240 8888264 Fas Fas cell surface death receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23127599 8888264 Fas Fas cell surface death receptor gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:insertion, deletions:cds:multiple (human) PMID:12466128|REF_RGD_ID:8662407 8888264 Fas Fas cell surface death receptor gene DOID:0081267 graft-versus-host disease ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:9404931|REF_RGD_ID:11049160 8888264 Fas Fas cell surface death receptor gene DOID:10223 dermatomyositis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9182923|REF_RGD_ID:8662437 8888264 Fas Fas cell surface death receptor gene DOID:10283 prostate cancer disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17667965|REF_RGD_ID:2290050 8888264 Fas Fas cell surface death receptor gene DOID:10283 prostate cancer severity ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:18237448|REF_RGD_ID:2289639 8888264 Fas Fas cell surface death receptor gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-670A>G (human) PMID:15695771|REF_RGD_ID:12903973 8888264 Fas Fas cell surface death receptor gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-670A>G(rs1800682)(human) PMID:30066360|REF_RGD_ID:14700669 8888264 Fas Fas cell surface death receptor gene DOID:10652 Alzheimer's disease ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-670G>A (human) PMID:11129341|REF_RGD_ID:1358615 8888264 Fas Fas cell surface death receptor gene DOID:10652 Alzheimer's disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:brain, plaque (human) PMID:12742739|REF_RGD_ID:8663481 8888264 Fas Fas cell surface death receptor gene DOID:10808 gastric ulcer treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29339218|REF_RGD_ID:13792597 8888264 Fas Fas cell surface death receptor gene DOID:10952 nephritis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26590112 8888264 Fas Fas cell surface death receptor gene DOID:11054 urinary bladder cancer ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9070496 8888264 Fas Fas cell surface death receptor gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-1377G>A,-670A>G PMID:16538171|REF_RGD_ID:2290063 8888264 Fas Fas cell surface death receptor gene DOID:11382 corneal neovascularization treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:12506060|REF_RGD_ID:8662416 8888264 Fas Fas cell surface death receptor gene DOID:11383 cryptorchidism ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29606031|REF_RGD_ID:13792609 8888264 Fas Fas cell surface death receptor gene DOID:11446 sciatic neuropathy ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29970988|REF_RGD_ID:13792563 8888264 Fas Fas cell surface death receptor gene DOID:11713 diabetic angiopathy ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:15803113|REF_RGD_ID:2315753 8888264 Fas Fas cell surface death receptor gene DOID:11832 visual epilepsy ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus (rat) PMID:11435933|REF_RGD_ID:8662911 8888264 Fas Fas cell surface death receptor gene DOID:12236 primary biliary cholangitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte: PMID:26429926|REF_RGD_ID:14700711 8888264 Fas Fas cell surface death receptor gene DOID:12336 male infertility ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:testis (rat) PMID:23441449|REF_RGD_ID:8663476 8888264 Fas Fas cell surface death receptor gene DOID:12337 varicocele ISO RGD:619831 D RGD:9068941 20200609 RGD protein:decreased expression:Leydig cell, spermatid PMID:16616089|REF_RGD_ID:1600348 8888264 Fas Fas cell surface death receptor gene DOID:12351 alcoholic hepatitis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8888264 Fas Fas cell surface death receptor gene DOID:12361 Graves' disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland, thyrocyte (human) PMID:11422195|REF_RGD_ID:8662820 8888264 Fas Fas cell surface death receptor gene DOID:12449 aplastic anemia ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:11876982|REF_RGD_ID:11049449 8888264 Fas Fas cell surface death receptor gene DOID:12449 aplastic anemia ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:CD34+ bone marrow cell PMID:7577642|REF_RGD_ID:11049159 8888264 Fas Fas cell surface death receptor gene DOID:12858 Huntington's disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:putamen,caudate: PMID:11054182|REF_RGD_ID:12903948 8888264 Fas Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9890678|REF_RGD_ID:8662410 8888264 Fas Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:9870874|REF_RGD_ID:8662451 8888264 Fas Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1552455 D RGD:9068941 20200609 RGD protein:decreased expression:lacrimal gland, lymphocyte (mouse) PMID:11157873|REF_RGD_ID:8662436 8888264 Fas Fas cell surface death receptor gene DOID:12894 Sjogren's syndrome ISO RGD:1552455 D RGD:9068941 20220825 MouseDO OMIM:270150 8888264 Fas Fas cell surface death receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17943461 8888264 Fas Fas cell surface death receptor gene DOID:12930 dilated cardiomyopathy ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:cardiocyte PMID:16761189|REF_RGD_ID:1600334 8888264 Fas Fas cell surface death receptor gene DOID:13099 Moyamoya disease ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Moyamoya disease 8888264 Fas Fas cell surface death receptor gene DOID:13133 HELLP syndrome ISO RGD:619831 D RGD:9068941 20200609 RGD protein,mRNA:altered expression:placenta, liver: PMID:28501275|REF_RGD_ID:14700673 8888264 Fas Fas cell surface death receptor gene DOID:13133 HELLP syndrome susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-670A>G(rs1800682)(human) PMID:30066360|REF_RGD_ID:14700669 8888264 Fas Fas cell surface death receptor gene DOID:1324 lung cancer ISO RGD:1346266 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO PMID:15937082|PMID:25741868 8888264 Fas Fas cell surface death receptor gene DOID:13241 Behcet's disease severity ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9836498|REF_RGD_ID:8662438 8888264 Fas Fas cell surface death receptor gene DOID:13767 clonorchiasis ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18427836|REF_RGD_ID:2315733 8888264 Fas Fas cell surface death receptor gene DOID:13767 clonorchiasis ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18427836|REF_RGD_ID:2315733 8888264 Fas Fas cell surface death receptor gene DOID:14004 thoracic aortic aneurysm ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 8888264 Fas Fas cell surface death receptor gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625619 8888264 Fas Fas cell surface death receptor gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:30172001|REF_RGD_ID:13792561 8888264 Fas Fas cell surface death receptor gene DOID:14330 Parkinson's disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:neurones of the substantia nigra pars: PMID:11054182|REF_RGD_ID:12903948 8888264 Fas Fas cell surface death receptor gene DOID:1485 cystic fibrosis severity ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:18685642|REF_RGD_ID:12903971 8888264 Fas Fas cell surface death receptor gene DOID:1577 limited scleroderma ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:17102953|REF_RGD_ID:12903974 8888264 Fas Fas cell surface death receptor gene DOID:1612 breast cancer susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-1377G>A PMID:17183065|REF_RGD_ID:2290054 8888264 Fas Fas cell surface death receptor gene DOID:1686 glaucoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve head, axon (human) PMID:19043361|REF_RGD_ID:8662440 8888264 Fas Fas cell surface death receptor gene DOID:1749 squamous cell carcinoma ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC PMID:10620127 8888264 Fas Fas cell surface death receptor gene DOID:1909 melanoma susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-1377A>G,-670A>G(human) PMID:16538172|REF_RGD_ID:12903985 8888264 Fas Fas cell surface death receptor gene DOID:1936 atherosclerosis treatment ISO RGD:1552455 D RGD:9068941 20230930 RGD PMID:29593532|REF_RGD_ID:401827839 8888264 Fas Fas cell surface death receptor gene DOID:1936 atherosclerosis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:29213335|REF_RGD_ID:13792600 8888264 Fas Fas cell surface death receptor gene DOID:2043 hepatitis B ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:12526294|REF_RGD_ID:14700675 8888264 Fas Fas cell surface death receptor gene DOID:2048 autoimmune hepatitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte: PMID:26429926|REF_RGD_ID:14700711 8888264 Fas Fas cell surface death receptor gene DOID:2048 autoimmune hepatitis treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:28551553|REF_RGD_ID:14700710 8888264 Fas Fas cell surface death receptor gene DOID:224 transient cerebral ischemia ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:10972965|REF_RGD_ID:8662928 8888264 Fas Fas cell surface death receptor gene DOID:224 transient cerebral ischemia ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18410517|REF_RGD_ID:2311437 8888264 Fas Fas cell surface death receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:18981705|REF_RGD_ID:8686422 8888264 Fas Fas cell surface death receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:619831 D RGD:9068941 20220728 RGD protein:increased expression:brain (rat) PMID:30301943|REF_RGD_ID:153297779 8888264 Fas Fas cell surface death receptor gene DOID:2316 brain ischemia ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16796407|REF_RGD_ID:1600333 8888264 Fas Fas cell surface death receptor gene DOID:2377 multiple sclerosis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:white matter of brain: PMID:8879222|REF_RGD_ID:12903947 8888264 Fas Fas cell surface death receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-670A>G (human) PMID:12098516|REF_RGD_ID:12903986 8888264 Fas Fas cell surface death receptor gene DOID:2378 relapsing-remitting multiple sclerosis susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:735T>C(human) PMID:15218339|REF_RGD_ID:12903953 8888264 Fas Fas cell surface death receptor gene DOID:2394 ovarian cancer disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:blood, peritoneal fluid, T cell PMID:17565840|REF_RGD_ID:2290084 8888264 Fas Fas cell surface death receptor gene DOID:2475 chronic conjunctivitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:conjunctival epithelial cell (human) PMID:9990333|REF_RGD_ID:8662412 8888264 Fas Fas cell surface death receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:12470426|REF_RGD_ID:2290077 8888264 Fas Fas cell surface death receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression PMID:16091761|REF_RGD_ID:2290075 8888264 Fas Fas cell surface death receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:16541433|REF_RGD_ID:2290058 8888264 Fas Fas cell surface death receptor gene DOID:2841 asthma ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:eosinophil PMID:16337971|REF_RGD_ID:1600350 8888264 Fas Fas cell surface death receptor gene DOID:2921 glomerulonephritis ISO RGD:1346266 D RGD:9068941 20231207 CTD CTD Direct Evidence: marker/mechanism PMID:21880982|PMID:36999444 8888264 Fas Fas cell surface death receptor gene DOID:2921 glomerulonephritis treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:9466307|REF_RGD_ID:8686428 8888264 Fas Fas cell surface death receptor gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29844269|REF_RGD_ID:13792576 8888264 Fas Fas cell surface death receptor gene DOID:3021 acute kidney failure ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:renal tubule (rat) PMID:21374789|REF_RGD_ID:8663469 8888264 Fas Fas cell surface death receptor gene DOID:3070 high grade glioma severity ISO RGD:1552455 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:11440439|REF_RGD_ID:8663460 8888264 Fas Fas cell surface death receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29208459|REF_RGD_ID:13792601 8888264 Fas Fas cell surface death receptor gene DOID:341 peripheral vascular disease ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma PMID:17075777|REF_RGD_ID:2315707 8888264 Fas Fas cell surface death receptor gene DOID:3429 inclusion body myositis ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle PMID:9450780|REF_RGD_ID:12903959 8888264 Fas Fas cell surface death receptor gene DOID:3459 breast carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:15792116|REF_RGD_ID:2290130 8888264 Fas Fas cell surface death receptor gene DOID:3492 mixed connective tissue disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9182923|REF_RGD_ID:8662437 8888264 Fas Fas cell surface death receptor gene DOID:3910 lung adenocarcinoma ISO RGD:1346266 D RGD:9068941 20220310 RGD mRNA:decreased expression:lung (human) PMID:29254206|REF_RGD_ID:151665107 8888264 Fas Fas cell surface death receptor gene DOID:409 liver disease treatment ISO RGD:619831 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29852394|REF_RGD_ID:13792574 8888264 Fas Fas cell surface death receptor gene DOID:417 autoimmune disease ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22536412|PMID:2545777|PMID:26590112 8888264 Fas Fas cell surface death receptor gene DOID:437 myasthenia gravis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15169653 8888264 Fas Fas cell surface death receptor gene DOID:437 myasthenia gravis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, T lymphocyte (human) PMID:23043710|REF_RGD_ID:8662430 8888264 Fas Fas cell surface death receptor gene DOID:4440 seminoma ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:17916181|REF_RGD_ID:2290049 8888264 Fas Fas cell surface death receptor gene DOID:4448 macular degeneration severity ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:choroid, epithelioid cell (human) PMID:9488273|REF_RGD_ID:8662418 8888264 Fas Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:17031406|REF_RGD_ID:2290099 8888264 Fas Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:missense mutations:exon PMID:12460460|REF_RGD_ID:2290131 8888264 Fas Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10654915|REF_RGD_ID:2290133 8888264 Fas Fas cell surface death receptor gene DOID:4450 renal cell carcinoma ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:11435457|REF_RGD_ID:2290132 8888264 Fas Fas cell surface death receptor gene DOID:4692 endophthalmitis ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:retinal ganglion cell, bipolar cell of retina, photoreceptor (rat) PMID:19039600|REF_RGD_ID:8662445 8888264 Fas Fas cell surface death receptor gene DOID:4752 multiple system atrophy ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:precentral gyrus (human) PMID:23372841|REF_RGD_ID:8663486 8888264 Fas Fas cell surface death receptor gene DOID:4914 esophagus adenocarcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human) PMID:10340890|REF_RGD_ID:8662425 8888264 Fas Fas cell surface death receptor gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:11003620|REF_RGD_ID:14700701 8888264 Fas Fas cell surface death receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:10200468|REF_RGD_ID:11049451 8888264 Fas Fas cell surface death receptor gene DOID:5327 retinal detachment ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:15557468|REF_RGD_ID:1600357 8888264 Fas Fas cell surface death receptor gene DOID:5327 retinal detachment treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:17923548|REF_RGD_ID:8662409 8888264 Fas Fas cell surface death receptor gene DOID:576 proteinuria ISO RGD:1346266 D RGD:9068941 20231207 CTD CTD Direct Evidence: marker/mechanism PMID:26590112|PMID:33632240|PMID:36999444 8888264 Fas Fas cell surface death receptor gene DOID:6000 congestive heart failure ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA:splice variant:heart left ventricle (human) PMID:9367848|REF_RGD_ID:8686420 8888264 Fas Fas cell surface death receptor gene DOID:6000 congestive heart failure treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29746994|REF_RGD_ID:13792577 8888264 Fas Fas cell surface death receptor gene DOID:612 primary immunodeficiency disease ISO RGD:1346266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645 8888264 Fas Fas cell surface death receptor gene DOID:630 genetic disease ISO RGD:1346266 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10875918|PMID:16199547|PMID:18948840|PMID:21490157|PMID:22237435|PMID:25741868|PMID:28492532|PMID:31131953 8888264 Fas Fas cell surface death receptor gene DOID:6376 hypersplenism ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877736 8888264 Fas Fas cell surface death receptor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1346266 D RGD:7240710 20180130 OMIM 8888264 Fas Fas cell surface death receptor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1346266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10090885|PMID:10515860|PMID:10575548|PMID:10875918|PMID:1090885|PMID:11830507|PMID:12657942|PMID:15459302|PMID:15459303|PMID:16199547|PMID:16537120|PMID:17576681|PMID:17999750|PMID:18223337|PMID:18948840|PMID:20301287|PMID:20682655|PMID:20935634|PMID:21183795|PMID:2149015|PMID:21490157|PMID:21625619|PMID:22237435|PMID:22752343|PMID:22983577|PMID:22983578|PMID:23407489|PMID:24033266|PMID:24728327|PMID:25502423|PMID:25741868|PMID:26563159|PMID:26942442|PMID:27789675|PMID:28492532|PMID:28668589|PMID:31131953|PMID:32499645|PMID:32888943|PMID:33816397|PMID:34573280|PMID:4852259|PMID:7540117|PMID:9028321|PMID:9028957|PMID:9533447|PMID:9536098|PMID:9821419|PMID:9927496 8888264 Fas Fas cell surface death receptor gene DOID:684 hepatocellular carcinoma ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:11274632|REF_RGD_ID:14700677 8888264 Fas Fas cell surface death receptor gene DOID:684 hepatocellular carcinoma ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29634416|REF_RGD_ID:13792608 8888264 Fas Fas cell surface death receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:30737368|REF_RGD_ID:14700700 8888264 Fas Fas cell surface death receptor gene DOID:687 hepatoblastoma ISO RGD:1346266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 8888264 Fas Fas cell surface death receptor gene DOID:7148 rheumatoid arthritis ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:20875116|REF_RGD_ID:12903969 8888264 Fas Fas cell surface death receptor gene DOID:7148 rheumatoid arthritis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:12148596|REF_RGD_ID:8662455 8888264 Fas Fas cell surface death receptor gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-670A>G (human) PMID:23053964|REF_RGD_ID:8662433 8888264 Fas Fas cell surface death receptor gene DOID:74 hematopoietic system disease ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15877736 8888264 Fas Fas cell surface death receptor gene DOID:768 retinoblastoma severity ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:14533029|REF_RGD_ID:8662811 8888264 Fas Fas cell surface death receptor gene DOID:83 cataract ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Diabetic Retinopathy; mRNA,protein:increased expression:epithelial cell PMID:12658358|REF_RGD_ID:2315757 8888264 Fas Fas cell surface death receptor gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter: -670 G>A, -1377 G>A (human) PMID:26563376|REF_RGD_ID:11049146 8888264 Fas Fas cell surface death receptor gene DOID:8568 infectious mononucleosis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:monocyte, neutrophil, serum: PMID:11185989|REF_RGD_ID:11049152 8888264 Fas Fas cell surface death receptor gene DOID:8577 ulcerative colitis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:30122878|REF_RGD_ID:13792562 8888264 Fas Fas cell surface death receptor gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10776692|REF_RGD_ID:11049162 8888264 Fas Fas cell surface death receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:17703359|PMID:29738767|REF_RGD_ID:13792580|REF_RGD_ID:2290176 8888264 Fas Fas cell surface death receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:cervical spinal cord PMID:17518537|REF_RGD_ID:2290177 8888264 Fas Fas cell surface death receptor gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms;DNA:polymorphism:promoter:-1377G>A PMID:18068525|REF_RGD_ID:2298509 8888264 Fas Fas cell surface death receptor gene DOID:9000099 Experimental Colitis treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:22368862|REF_RGD_ID:10054108 8888264 Fas Fas cell surface death receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:esophageal mucosa: PMID:9605741|REF_RGD_ID:11049151 8888264 Fas Fas cell surface death receptor gene DOID:9000855 Experimental Radiation Injuries ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:testis (rat) PMID:9927315|REF_RGD_ID:8662886 8888264 Fas Fas cell surface death receptor gene DOID:9000918 Disease Progression ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 8888264 Fas Fas cell surface death receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:decreased expression:breast PMID:17352235|REF_RGD_ID:2290053 8888264 Fas Fas cell surface death receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1552455 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms;protein:decreased expression:lung PMID:17918178|REF_RGD_ID:2290048 8888264 Fas Fas cell surface death receptor gene DOID:9000996 Chest Trauma ISO RGD:619831 D RGD:9068941 20200609 RGD protein:decreased expression:alveolar macrophage (rat) PMID:21330946|REF_RGD_ID:8663480 8888264 Fas Fas cell surface death receptor gene DOID:9000998 Brain Injuries ISO RGD:1552455 D RGD:9068941 20200609 RGD associated with Hyperoxia PMID:19107989|REF_RGD_ID:8662854 8888264 Fas Fas cell surface death receptor gene DOID:9000998 Brain Injuries ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:16078565|REF_RGD_ID:1600354 8888264 Fas Fas cell surface death receptor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte: PMID:26429926|REF_RGD_ID:14700711 8888264 Fas Fas cell surface death receptor gene DOID:9001472 Nasal Polyps ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:decreased expression:nasal polyp (human) PMID:15283292|REF_RGD_ID:8662435 8888264 Fas Fas cell surface death receptor gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 8888264 Fas Fas cell surface death receptor gene DOID:9001553 Spinal Cord Compression ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:21490053|REF_RGD_ID:12904017 8888264 Fas Fas cell surface death receptor gene DOID:9001553 Spinal Cord Compression ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:16202410|REF_RGD_ID:8663485 8888264 Fas Fas cell surface death receptor gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1346266 D RGD:9068941 20200609 RGD human protein in a rat model PMID:16689665|REF_RGD_ID:1582444 8888264 Fas Fas cell surface death receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 8888264 Fas Fas cell surface death receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:17105443|REF_RGD_ID:2290284 8888264 Fas Fas cell surface death receptor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30737368 8888264 Fas Fas cell surface death receptor gene DOID:9001661 Taste Disorders ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22536412 8888264 Fas Fas cell surface death receptor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11809923 8888264 Fas Fas cell surface death receptor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:17235585|REF_RGD_ID:2290283 8888264 Fas Fas cell surface death receptor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16222447|REF_RGD_ID:1600351 8888264 Fas Fas cell surface death receptor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:18561025|REF_RGD_ID:14700680 8888264 Fas Fas cell surface death receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney PMID:17851466|REF_RGD_ID:2315705 8888264 Fas Fas cell surface death receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18287563|REF_RGD_ID:2312739 8888264 Fas Fas cell surface death receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:619831 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:renal distal tubule (rat) PMID:12861046|REF_RGD_ID:8686421 8888264 Fas Fas cell surface death receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:12901972|REF_RGD_ID:11049461 8888264 Fas Fas cell surface death receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with protein:increased expression:serum: PMID:16169656|REF_RGD_ID:12904025 8888264 Fas Fas cell surface death receptor gene DOID:9002231 Fetal Growth Retardation susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human) PMID:15695771|REF_RGD_ID:12903973 8888264 Fas Fas cell surface death receptor gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29713367|REF_RGD_ID:13792581 8888264 Fas Fas cell surface death receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:18265979|REF_RGD_ID:2290046 8888264 Fas Fas cell surface death receptor gene DOID:9002371 Cardiotoxicity ISO RGD:1346266 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34713381 8888264 Fas Fas cell surface death receptor gene DOID:9002395 Hypothermia ISO RGD:619831 D RGD:9068941 20200609 RGD associated with Ischemic Attack, Transient; protein:decreased expression:brain (rat) PMID:18410517|REF_RGD_ID:2311437 8888264 Fas Fas cell surface death receptor gene DOID:9002720 Splenomegaly ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868|PMID:28492532 8888264 Fas Fas cell surface death receptor gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1552455 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:17102953|REF_RGD_ID:12903974 8888264 Fas Fas cell surface death receptor gene DOID:9002928 Colonic Neoplasms resistance ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression PMID:15796164|REF_RGD_ID:1600355 8888264 Fas Fas cell surface death receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:21843499|REF_RGD_ID:9587791 8888264 Fas Fas cell surface death receptor gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:12148596|REF_RGD_ID:8662455 8888264 Fas Fas cell surface death receptor gene DOID:9003867 Lymphomatoid Papulosis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11594583 8888264 Fas Fas cell surface death receptor gene DOID:9004009 Reperfusion Injury treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29568770|REF_RGD_ID:13792595 8888264 Fas Fas cell surface death receptor gene DOID:9004038 Kashin-Beck Disease ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:articular cartilage, chondrocyte PMID:16511931|REF_RGD_ID:10054094 8888264 Fas Fas cell surface death receptor gene DOID:9004484 Sepsis ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17899301|REF_RGD_ID:2290175 8888264 Fas Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12828076 8888264 Fas Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:28060213|REF_RGD_ID:14700678 8888264 Fas Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:hepatocyte: PMID:10950056|REF_RGD_ID:14700697 8888264 Fas Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure ISO RGD:1552455 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:25601293|REF_RGD_ID:14700667 8888264 Fas Fas cell surface death receptor gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:25601293|REF_RGD_ID:14700667 8888264 Fas Fas cell surface death receptor gene DOID:9004610 Acute Lung Injury ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11778176 8888264 Fas Fas cell surface death receptor gene DOID:9005144 Autoimmune Lymphoproliferative Syndrome, Type IA ISO RGD:1346266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a PMID:10090885|PMID:10200300|PMID:10515860|PMID:10709732|PMID:15459302|PMID:15459303|PMID:17576681|PMID:18223337|PMID:18948840|PMID:20935634|PMID:21490157|PMID:22237435|PMID:23407489|PMID:26942442|PMID:28492532|PMID:4165068|PMID:4852259|PMID:7539157|PMID:7540117|PMID:8929361|PMID:9028321|PMID:9533447|PMID:9536098|PMID:9821419|PMID:9927496 8888264 Fas Fas cell surface death receptor gene DOID:9005172 Lung Neoplasms ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8888264 Fas Fas cell surface death receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:18094967|REF_RGD_ID:2290047 8888264 Fas Fas cell surface death receptor gene DOID:9005627 Metabolic Brain Diseases ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, neuron; associated with diabetes mellitus, insulin-dependent PMID:15777748|REF_RGD_ID:1600356 8888264 Fas Fas cell surface death receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8888264 Fas Fas cell surface death receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:heart ventricle PMID:19820199|REF_RGD_ID:2314021 8888264 Fas Fas cell surface death receptor gene DOID:9005643 Experimental Diabetes Mellitus onset ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:20004692|REF_RGD_ID:2315698 8888264 Fas Fas cell surface death receptor gene DOID:9005647 Experimental Autoimmune Uveitis susceptibility ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:11067900|REF_RGD_ID:8662852 8888264 Fas Fas cell surface death receptor gene DOID:9005749 Necrosis ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15664267 8888264 Fas Fas cell surface death receptor gene DOID:9005930 Endotoxemia ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen (rat) PMID:20428798|REF_RGD_ID:8662930 8888264 Fas Fas cell surface death receptor gene DOID:9006205 Animal Disease Models ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22536412|PMID:26590112 8888264 Fas Fas cell surface death receptor gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:29285062|REF_RGD_ID:13792599 8888264 Fas Fas cell surface death receptor gene DOID:9006411 Testicular Injury ISO RGD:1346266 D RGD:9068941 20200609 RGD mRNA:increased expression:testis (rat) PMID:9112408|REF_RGD_ID:8662900 8888264 Fas Fas cell surface death receptor gene DOID:9006646 Metabolic Syndrome ISO RGD:619831 D RGD:9068941 20231005 RGD mRNA:increased expression:liver (rat) PMID:11934685|REF_RGD_ID:628329 8888264 Fas Fas cell surface death receptor gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus, renal interstitium, renal tubule PMID:16152783|REF_RGD_ID:1600352 8888264 Fas Fas cell surface death receptor gene DOID:9006890 Chronic Uveitis severity ISO RGD:1346266 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) PMID:8814751|REF_RGD_ID:8662442 8888264 Fas Fas cell surface death receptor gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1346266 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 8888264 Fas Fas cell surface death receptor gene DOID:9007355 Hashimoto Disease severity ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human) PMID:15242568|REF_RGD_ID:8662824 8888264 Fas Fas cell surface death receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:16831245|REF_RGD_ID:8662853 8888264 Fas Fas cell surface death receptor gene DOID:9007480 Hyperoxia ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:thalamus, cerebral cortex (rat) PMID:19107989|REF_RGD_ID:8662854 8888264 Fas Fas cell surface death receptor gene DOID:9007480 Hyperoxia susceptibility ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:19107989|REF_RGD_ID:8662854 8888264 Fas Fas cell surface death receptor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1552455 D RGD:9068941 20200609 RGD protein:increased expression:Kupffer cell: PMID:15797225|REF_RGD_ID:14700708 8888264 Fas Fas cell surface death receptor gene DOID:9007558 Acute Experimental Pancreatitis severity ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:15797225|REF_RGD_ID:14700708 8888264 Fas Fas cell surface death receptor gene DOID:9007692 Insulin Resistance treatment ISO RGD:619831 D RGD:9068941 20200609 RGD associated with hypothalamic disease PMID:29522769|REF_RGD_ID:13792596 8888264 Fas Fas cell surface death receptor gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:619831 D RGD:9068941 20200609 RGD PMID:21316771|REF_RGD_ID:8686424 8888264 Fas Fas cell surface death receptor gene DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome ISO RGD:1346266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome 8888264 Fas Fas cell surface death receptor gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:619831 D RGD:9068941 20200609 RGD mRNA:increased expression:mandibular condyle, cartilage (rat) PMID:23934157|REF_RGD_ID:8663479 8888264 Fas Fas cell surface death receptor gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10716473 8888264 Fas Fas cell surface death receptor gene DOID:9008691 Liver Injury treatment ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:30737368|REF_RGD_ID:14700700 8888264 Fas Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:T lymphocyte: PMID:7531628|REF_RGD_ID:11049450 8888264 Fas Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9182923|REF_RGD_ID:8662437 8888264 Fas Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1346266 D RGD:9068941 20231207 CTD CTD Direct Evidence: marker/mechanism PMID:36999444 8888264 Fas Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1552455 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8888264 Fas Fas cell surface death receptor gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:snps:promoter:g.-1377G>A, g.-670A>G (human) PMID:23053964|REF_RGD_ID:8662433 8888264 Fas Fas cell surface death receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7579353 8888264 Fas Fas cell surface death receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:8870373|REF_RGD_ID:11049452 8888264 Fas Fas cell surface death receptor gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1346266 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:-1377 G>A, -670 G>A (human) PMID:12907599|REF_RGD_ID:11049150 8888264 Fas Fas cell surface death receptor gene DOID:9206 Barrett's esophagus severity ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:10821489|REF_RGD_ID:12903968 8888264 Fas Fas cell surface death receptor gene DOID:9282 ocular hypertension ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:retina, microglial cell PMID:17045251|REF_RGD_ID:1600312 8888264 Fas Fas cell surface death receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8888264 Fas Fas cell surface death receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:insulin-secreting cells PMID:19120316|REF_RGD_ID:2315742 8888264 Fas Fas cell surface death receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1552455 D RGD:9068941 20200609 RGD PMID:9254659|REF_RGD_ID:2315754 8888264 Fas Fas cell surface death receptor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1346266 D RGD:9068941 20200609 RGD protein:increased expression:CD34+ bone marrow cell PMID:9711907|REF_RGD_ID:11049157 8888264 Fas Fas cell surface death receptor gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1346266 D RGD:9068941 20200609 RGD PMID:10500800|REF_RGD_ID:11049148 8888264 Fas Fas cell surface death receptor gene DOID:9976 heroin dependence ISO RGD:619831 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:14530904|REF_RGD_ID:8686423 8888279 Pcyt1b phosphate cytidylyltransferase 1B, choline gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8888279 Pcyt1b phosphate cytidylyltransferase 1B, choline gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:19439424|PMID:19738637|PMID:24643514|PMID:26337422|PMID:28492532 8888279 Pcyt1b phosphate cytidylyltransferase 1B, choline gene DOID:12849 autistic disorder ISO RGD:1348765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8888279 Pcyt1b phosphate cytidylyltransferase 1B, choline gene DOID:630 genetic disease ISO RGD:1348765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888279 Pcyt1b phosphate cytidylyltransferase 1B, choline gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8888279 Pcyt1b phosphate cytidylyltransferase 1B, choline gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8888306 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1316370 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:22922874|PMID:23141461|PMID:25234635|PMID:25741868|PMID:28492532|PMID:28572511|PMID:30651581|PMID:33729671|PMID:33845046 8888306 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:0050731 vitamin B12 deficiency ISO RGD:1316370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922874 8888306 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:1059 intellectual disability ISO RGD:1316370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8888306 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:630 genetic disease ISO RGD:1316370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8888306 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:655 inherited metabolic disorder ISO RGD:1316370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922874 8888306 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:9000918 Disease Progression ISO RGD:1316370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8888306 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:9005863 Methylmalonic Aciduria and Homocystinuria, cblJ Type ISO RGD:1316370 D RGD:7240710 20180130 OMIM 8888306 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:9005863 Methylmalonic Aciduria and Homocystinuria, cblJ Type ISO RGD:1316370 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE PMID:16199547|PMID:17576681|PMID:22922874|PMID:25741868|PMID:28492532|PMID:30293248|PMID:33845046|PMID:9536098 8888306 Abcd4 ATP binding cassette subfamily D member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8888339 Pabpn1 poly(A) binding protein nuclear 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8888339 Pabpn1 poly(A) binding protein nuclear 1 gene DOID:11719 oculopharyngeal muscular dystrophy ISO RGD:1345820 D RGD:7240710 20180130 OMIM 8888339 Pabpn1 poly(A) binding protein nuclear 1 gene DOID:11719 oculopharyngeal muscular dystrophy ISO RGD:1345820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy PMID:16648376|PMID:25741868 8888339 Pabpn1 poly(A) binding protein nuclear 1 gene DOID:630 genetic disease ISO RGD:1345820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888339 Pabpn1 poly(A) binding protein nuclear 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:28492532 8888339 Pabpn1 poly(A) binding protein nuclear 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8888349 Kctd10 potassium channel tetramerization domain containing 10 gene DOID:630 genetic disease ISO RGD:1347079 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888367 Nlrp12 NLR family pyrin domain containing 12 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1319748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:25741868|PMID:28492532 8888367 Nlrp12 NLR family pyrin domain containing 12 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319748 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:25741868|PMID:28492532 8888367 Nlrp12 NLR family pyrin domain containing 12 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:1319748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:24033266|PMID:24064030|PMID:25741868|PMID:27314497|PMID:27633793|PMID:28492532 8888367 Nlrp12 NLR family pyrin domain containing 12 gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1319748 D RGD:7240710 20180130 OMIM 8888367 Nlrp12 NLR family pyrin domain containing 12 gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1319748 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 | ClinVar Annotator: match by term: NLRP12-related condition PMID:16199547|PMID:17576681|PMID:18230725|PMID:21360512|PMID:21538323|PMID:24033266|PMID:24064030|PMID:25064839|PMID:25640679|PMID:25741868|PMID:26508570|PMID:27314497|PMID:27633793|PMID:28166811|PMID:28492532|PMID:29500522|PMID:30783801|PMID:30788684|PMID:30858956|PMID:31155445|PMID:31820221|PMID:32888943|PMID:33042144|PMID:34975878|PMID:9536098 8888367 Nlrp12 NLR family pyrin domain containing 12 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1319748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:16199547|PMID:17576681|PMID:18230725|PMID:21360512|PMID:21538323|PMID:24033266|PMID:24064030|PMID:25741868|PMID:27314497|PMID:27633793|PMID:28492532|PMID:29500522|PMID:30788684|PMID:31820221|PMID:9536098 8888367 Nlrp12 NLR family pyrin domain containing 12 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1319748 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:16199547|PMID:17576681|PMID:18230725|PMID:21360512|PMID:21538323|PMID:24033266|PMID:24064030|PMID:25741868|PMID:27314497|PMID:27633793|PMID:28492532|PMID:29500522|PMID:30783801|PMID:30788684|PMID:30858956|PMID:31820221|PMID:34975878|PMID:9536098 8888367 Nlrp12 NLR family pyrin domain containing 12 gene DOID:2987 familial mediterranean fever ISO RGD:1319748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periodic fever syndrome PMID:28492532 8888367 Nlrp12 NLR family pyrin domain containing 12 gene DOID:4450 renal cell carcinoma ISO RGD:1319748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8888367 Nlrp12 NLR family pyrin domain containing 12 gene DOID:630 genetic disease ISO RGD:1319748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8888367 Nlrp12 NLR family pyrin domain containing 12 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1319748 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570|PMID:28492532 8888378 Slc44a3 solute carrier family 44 member 3 gene DOID:630 genetic disease ISO RGD:1602189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888424 Psmb7 proteasome 20S subunit beta 7 gene DOID:0060224 atrial fibrillation ISO RGD:732115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8888424 Psmb7 proteasome 20S subunit beta 7 gene DOID:0080600 COVID-19 ISO RGD:732115 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8888424 Psmb7 proteasome 20S subunit beta 7 gene DOID:630 genetic disease ISO RGD:732115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888436 Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta gene DOID:630 genetic disease ISO RGD:734393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888436 Ywhaq tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta gene DOID:8398 osteoarthritis ISO RGD:734393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8888443 Gcdh glutaryl-CoA dehydrogenase gene DOID:0050990 episodic ataxia type 2 ISO RGD:1318826 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8888443 Gcdh glutaryl-CoA dehydrogenase gene DOID:0060787 hypomyelinating leukodystrophy 2 ISO RGD:1318826 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2 PMID:10699052|PMID:11854167|PMID:15505393|PMID:16602100|PMID:17622945|PMID:25741868|PMID:28302372|PMID:28492532|PMID:8900227 8888443 Gcdh glutaryl-CoA dehydrogenase gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1318826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8888443 Gcdh glutaryl-CoA dehydrogenase gene DOID:0110600 primary ciliary dyskinesia 29 ISO RGD:1318826 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 29 PMID:10649503|PMID:10699052|PMID:10960496|PMID:11073722|PMID:18775954|PMID:20732827|PMID:24973495|PMID:25256449|PMID:25741868|PMID:25762492|PMID:28352331|PMID:28438223|PMID:28492532|PMID:28794906|PMID:30570710|PMID:31062211|PMID:31536184|PMID:8900227|PMID:9600243 8888443 Gcdh glutaryl-CoA dehydrogenase gene DOID:0111254 glutaric acidemia I ISO RGD:1318826 D RGD:7240710 20180130 OMIM 8888443 Gcdh glutaryl-CoA dehydrogenase gene DOID:0111254 glutaric acidemia I ISO RGD:1318826 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glutaric acidemia type I | ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10066389|PMID:10371528|PMID:10384381|PMID:10649503|PMID:10699052|PMID:10960496|PMID:11015709|PMID:11024031|PMID:11058907|PMID:11073722|PMID:11174631|PMID:11508549|PMID:11825066|PMID:11854167|PMID:12199454|PMID:12210585|PMID:12473778|PMID:12872844|PMID:12948740|PMID:14691600|PMID:14707522|PMID:15248096|PMID:15318278|PMID:15505393|PMID:15505400|PMID:15573311|PMID:15954035|PMID:16183314|PMID:16199547|PMID:16377226|PMID:16466958|PMID:16488172|PMID:16602100|PMID:16641220|PMID:17188916|PMID:17478444|PMID:17576681|PMID:17622945|PMID:17642054|PMID:17661081|PMID:18285246|PMID:18304851|PMID:18411069|PMID:18459892|PMID:18683078|PMID:18775954|PMID:18926513|PMID:19167251|PMID:19433275|PMID:19433437|PMID:19486177|PMID:1951469|PMID:19630565|PMID:20084589|PMID:20514322|PMID:20629163|PMID:20732827|PMID:20836999|PMID:20960650|PMID:20978942|PMID:21031586|PMID:21176883|PMID:21228398|PMID:21811973|PMID:21912879|PMID:22106832|PMID:22231382|PMID:22728054|PMID:23104440|PMID:23225040|PMID:23395213|PMID:23884036|PMID:24332224|PMID:24795062|PMID:24973495|PMID:25087612|PMID:25190159|PMID:25204480|PMID:25255367|PMID:25256449|PMID:25590979|PMID:25735478|PMID:25741868|PMID:25762492|PMID:25863083|PMID:26071121|PMID:26316201|PMID:26589311|PMID:26593172|PMID:26633542|PMID:26656312|PMID:26847429|PMID:27243974|PMID:27250579|PMID:27351573|PMID:27397597|PMID:27476540|PMID:27629047|PMID:27672653|PMID:27896087|PMID:28062662|PMID:28143689|PMID:28302372|PMID:28352331|PMID:28389991|PMID:28411331|PMID:28438223|PMID:28492532|PMID:28781846|PMID:28794906|PMID:28991257|PMID:29068549|PMID:29086383|PMID:29201125|PMID:29292490|PMID:29419857|PMID:29665094|PMID:30203563|PMID:30217722|PMID:30298489|PMID:30512148|PMID:30570710|PMID:30838298|PMID:31062211|PMID:31130284|PMID:31302874|PMID:31319225|PMID:31491587|PMID:31515781|PMID:31536184|PMID:31589614|PMID:31788423|PMID:31952437|PMID:32005694|PMID:32240488|PMID:32508882|PMID:32777384|PMID:32778825|PMID:32992790|PMID:33015233|PMID:33064266|PMID:33116287|PMID:33123633|PMID:33138774|PMID:33578440|PMID:33728242|PMID:34207159|PMID:34258142|PMID:34306040|PMID:34344405|PMID:34394177|PMID:34504725|PMID:35281663|PMID:35822093|PMID:36221165|PMID:37020324|PMID:6377226|PMID:7795610|PMID:8541831|PMID:8900227|PMID:8900228|PMID:9266361|PMID:9536098|PMID:9600243|PMID:9711871|PMID:9856558|PMID:9881681 8888443 Gcdh glutaryl-CoA dehydrogenase gene DOID:0111400 congenital dyserythropoietic anemia type IV ISO RGD:1318826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV PMID:11825066|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31536184|PMID:7795610|PMID:9536098 8888443 Gcdh glutaryl-CoA dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1318826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8888443 Gcdh glutaryl-CoA dehydrogenase gene DOID:3413 alpha-mannosidosis ISO RGD:1318826 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8888443 Gcdh glutaryl-CoA dehydrogenase gene DOID:630 genetic disease ISO RGD:1318826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10649503|PMID:10699052|PMID:10960496|PMID:11073722|PMID:15505393|PMID:18459892|PMID:18775954|PMID:19433275|PMID:20732827|PMID:21912879|PMID:24332224|PMID:24973495|PMID:25256449|PMID:25741868|PMID:25762492|PMID:26071121|PMID:26847429|PMID:27397597|PMID:28352331|PMID:28438223|PMID:28492532|PMID:28794906|PMID:30570710|PMID:31062211|PMID:31491587|PMID:31536184|PMID:32240488|PMID:32992790|PMID:35281663|PMID:8900227|PMID:9266361|PMID:9600243|PMID:9711871|PMID:9881681 8888443 Gcdh glutaryl-CoA dehydrogenase gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1318826 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 8888443 Gcdh glutaryl-CoA dehydrogenase gene DOID:9009132 Glutaric Aciduria ISO RGD:1318826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric acidemia PMID:25741868|PMID:28492532 8888458 Tst thiosulfate sulfurtransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8888458 Tst thiosulfate sulfurtransferase gene DOID:0060180 colitis ISO RGD:735470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19647029 8888458 Tst thiosulfate sulfurtransferase gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:735470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 8888458 Tst thiosulfate sulfurtransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735470 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8888458 Tst thiosulfate sulfurtransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8888458 Tst thiosulfate sulfurtransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8888458 Tst thiosulfate sulfurtransferase gene DOID:630 genetic disease ISO RGD:735470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888458 Tst thiosulfate sulfurtransferase gene DOID:684 hepatocellular carcinoma ISO RGD:735470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8888458 Tst thiosulfate sulfurtransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:735470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8888469 Espn espin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:731924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 8888469 Espn espin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731924 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8888469 Espn espin gene DOID:0110494 autosomal recessive nonsyndromic deafness 36 ISO RGD:731924 D RGD:7240710 20180130 OMIM 8888469 Espn espin gene DOID:0110494 autosomal recessive nonsyndromic deafness 36 ISO RGD:731924 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant PMID:15286153|PMID:15930085|PMID:18973245|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29572253|PMID:30303587|PMID:32747562|PMID:33297549|PMID:35802133|PMID:36633841|PMID:9763424 8888469 Espn espin gene DOID:0110826 Usher syndrome type 1 ISO RGD:731924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:29572253 8888469 Espn espin gene DOID:10003 sensorineural hearing loss ISO RGD:731924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8888469 Espn espin gene DOID:3426 vestibular disease ISO RGD:10825 D RGD:9068941 20200609 RGD PMID:10975527|REF_RGD_ID:734943 8888469 Espn espin gene DOID:3426 vestibular disease ISO RGD:731924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286153 8888469 Espn espin gene DOID:630 genetic disease ISO RGD:731924 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25356970|PMID:25741868|PMID:28492532 8888469 Espn espin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8888469 Espn espin gene DOID:9008222 Usher Syndrome Type 1M ISO RGD:731924 D RGD:7240710 20191030 OMIM 8888469 Espn espin gene DOID:9008222 Usher Syndrome Type 1M ISO RGD:731924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 1M PMID:15930085|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29572253|PMID:33297549 8888469 Espn espin gene DOID:9008681 Deafness ISO RGD:10825 D RGD:9068941 20200609 RGD PMID:10975527|REF_RGD_ID:734943 8888469 Espn espin gene DOID:9008681 Deafness ISO RGD:731924 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15286153|PMID:15930085 8888481 Pld6 phospholipase D family member 6 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1602058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:15852235|PMID:20188345|PMID:28492532 8888481 Pld6 phospholipase D family member 6 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1602058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8888481 Pld6 phospholipase D family member 6 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1602058 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8888481 Pld6 phospholipase D family member 6 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602058 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8888481 Pld6 phospholipase D family member 6 gene DOID:12849 autistic disorder ISO RGD:1602058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8888481 Pld6 phospholipase D family member 6 gene DOID:630 genetic disease ISO RGD:1602058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888486 Chchd5 coiled-coil-helix-coiled-coil-helix domain containing 5 gene DOID:630 genetic disease ISO RGD:1317218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888498 Elovl1 ELOVL fatty acid elongase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1349015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8888498 Elovl1 ELOVL fatty acid elongase 1 gene DOID:630 genetic disease ISO RGD:1349015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888498 Elovl1 ELOVL fatty acid elongase 1 gene DOID:9006712 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES ISO RGD:1349015 D RGD:7240710 20190918 OMIM 8888498 Elovl1 ELOVL fatty acid elongase 1 gene DOID:9006712 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES ISO RGD:1349015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features PMID:28492532|PMID:29496980|PMID:30487246|PMID:35379526 8888511 Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1606107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8888511 Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8888511 Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0111420 familial GPIHBP1 deficiency ISO RGD:1606107 D RGD:7240710 20180130 OMIM 8888511 Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:0111420 familial GPIHBP1 deficiency ISO RGD:1606107 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia, type 1D PMID:19304573|PMID:20026666|PMID:20124439|PMID:21478160|PMID:21816778|PMID:22239554|PMID:23806086|PMID:24088041|PMID:24614124|PMID:25387803|PMID:25741868|PMID:27185325|PMID:28492532|PMID:30352774|PMID:31153847|PMID:31589614|PMID:31785789|PMID:33223529|PMID:33303402|PMID:35770288|PMID:36978188 8888511 Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:4621 holoprosencephaly ISO RGD:1606107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8888511 Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene DOID:630 genetic disease ISO RGD:1606107 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8888524 Rpain RPA interacting protein gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8888524 Rpain RPA interacting protein gene DOID:630 genetic disease ISO RGD:1604268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888536 Syt2 synaptotagmin 2 gene DOID:0110659 congenital myasthenic syndrome 7 ISO RGD:735278 D RGD:7240710 20180130 OMIM 8888536 Syt2 synaptotagmin 2 gene DOID:0110659 congenital myasthenic syndrome 7 ISO RGD:735278 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 7 PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919|PMID:30533528|PMID:31230720|PMID:32403337|PMID:33320396|PMID:34037996 8888536 Syt2 synaptotagmin 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:735278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8888536 Syt2 synaptotagmin 2 gene DOID:12377 spinal muscular atrophy ISO RGD:731270 D RGD:9068941 20211203 RGD protein:decreased expression:multiple (mouse) PMID:28173138|REF_RGD_ID:11535337 8888536 Syt2 synaptotagmin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8888536 Syt2 synaptotagmin 2 gene DOID:3635 congenital myasthenic syndrome ISO RGD:735278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8888536 Syt2 synaptotagmin 2 gene DOID:630 genetic disease ISO RGD:735278 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919 8888536 Syt2 synaptotagmin 2 gene DOID:7319 axonal neuropathy ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868 8888536 Syt2 synaptotagmin 2 gene DOID:9001976 Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive ISO RGD:735278 D RGD:7240710 20211027 OMIM 8888536 Syt2 synaptotagmin 2 gene DOID:9001976 Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive ISO RGD:735278 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | ClinVar Annotator: match by term: SYT2-related condition PMID:25741868|PMID:28492532|PMID:32250532|PMID:32776697|PMID:33659639 8888536 Syt2 synaptotagmin 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:735278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8888536 Syt2 synaptotagmin 2 gene DOID:9005532 Muscle Weakness ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness 8888536 Syt2 synaptotagmin 2 gene DOID:9006836 Contracture ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8888536 Syt2 synaptotagmin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8888554 Kiaa0930 KIAA0930 ortholog gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1312287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8888554 Kiaa0930 KIAA0930 ortholog gene DOID:0080600 COVID-19 ISO RGD:1312287 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8888554 Kiaa0930 KIAA0930 ortholog gene DOID:1059 intellectual disability ISO RGD:1312287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8888554 Kiaa0930 KIAA0930 ortholog gene DOID:630 genetic disease ISO RGD:1312287 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8888554 Kiaa0930 KIAA0930 ortholog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312287 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8888593 Znf219 zinc finger protein 219 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1347695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8888593 Znf219 zinc finger protein 219 gene DOID:630 genetic disease ISO RGD:1347695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888593 Znf219 zinc finger protein 219 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1347695 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8888603 Nudt19 nudix hydrolase 19 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8888603 Nudt19 nudix hydrolase 19 gene DOID:630 genetic disease ISO RGD:1602031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888610 Fam50a family with sequence similarity 50 member A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8888610 Fam50a family with sequence similarity 50 member A gene DOID:0050476 Barth syndrome ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8888610 Fam50a family with sequence similarity 50 member A gene DOID:0050764 Armfield syndrome ISO RGD:1344714 D RGD:7240710 20200902 OMIM 8888610 Fam50a family with sequence similarity 50 member A gene DOID:0050764 Armfield syndrome ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Armfield syndrome | ClinVar Annotator: match by term: FAM50A-related condition PMID:10398235|PMID:25741868|PMID:32703943 8888610 Fam50a family with sequence similarity 50 member A gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1344714 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868 8888610 Fam50a family with sequence similarity 50 member A gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8888610 Fam50a family with sequence similarity 50 member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8888610 Fam50a family with sequence similarity 50 member A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 8888610 Fam50a family with sequence similarity 50 member A gene DOID:0112003 immunodeficiency 33 ISO RGD:1344714 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8888610 Fam50a family with sequence similarity 50 member A gene DOID:10588 adrenoleukodystrophy ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8888610 Fam50a family with sequence similarity 50 member A gene DOID:1059 intellectual disability ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10398235|PMID:25741868|PMID:32703943 8888610 Fam50a family with sequence similarity 50 member A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8888610 Fam50a family with sequence similarity 50 member A gene DOID:12849 autistic disorder ISO RGD:1344714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8888610 Fam50a family with sequence similarity 50 member A gene DOID:13628 favism ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8888610 Fam50a family with sequence similarity 50 member A gene DOID:2729 dyskeratosis congenita ISO RGD:1344714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8888610 Fam50a family with sequence similarity 50 member A gene DOID:607 paraplegia ISO RGD:1344714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8888610 Fam50a family with sequence similarity 50 member A gene DOID:630 genetic disease ISO RGD:1344714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888610 Fam50a family with sequence similarity 50 member A gene DOID:9002720 Splenomegaly ISO RGD:1344714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:15176425|PMID:16244680|PMID:22402334|PMID:22581653|PMID:25741868|PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050451 Brugada syndrome ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11997281|PMID:14661677|PMID:14760488|PMID:15840476|PMID:16043162|PMID:16487223|PMID:19172259|PMID:19841300|PMID:22581653|PMID:22584458|PMID:22949429|PMID:23861362|PMID:24223155|PMID:25417810|PMID:25741868|PMID:27711072|PMID:28492532|PMID:30662450|PMID:34135346 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050473 Alstrom syndrome ISO RGD:732101 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Alstrom's syndrome PMID:25741868|PMID:28492532|PMID:29255176|PMID:31696929 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0050793 short QT syndrome ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:11173780|PMID:12925462|PMID:14676148|PMID:15828882|PMID:18692916|PMID:19088443|PMID:19174314|PMID:19340359|PMID:19413965|PMID:19439805|PMID:19501051|PMID:19926013|PMID:21130771|PMID:21798421|PMID:22194679|PMID:22581653|PMID:23300672|PMID:23471968|PMID:24291113|PMID:25741868|PMID:25974115|PMID:28491588|PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0060224 atrial fibrillation ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:10807545|PMID:11997281|PMID:12402336|PMID:12829173|PMID:14661677|PMID:14760488|PMID:15599693|PMID:16116052|PMID:16132053|PMID:16487223|PMID:17161064|PMID:17210839|PMID:18060054|PMID:18222980|PMID:18808722|PMID:19841300|PMID:22581653|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11222472|PMID:11468227|PMID:11668638|PMID:14998624|PMID:20167303|PMID:22581653|PMID:24606995|PMID:25417810|PMID:25741868|PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110218 Brugada syndrome 1 ISO RGD:732101 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:19716085|PMID:22581653|PMID:23861362|PMID:25417810|PMID:25637381|PMID:25741868|PMID:26332594|PMID:28492532|PMID:29247119|PMID:29255176|PMID:29752375|PMID:31696929|PMID:32048431|PMID:32893267 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110218 Brugada syndrome 1 ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:19716085|PMID:22581653|PMID:23861362|PMID:25417810|PMID:25637381|PMID:25741868|PMID:26332594|PMID:28492532|PMID:29247119|PMID:29255176|PMID:29752375|PMID:31521807|PMID:31696929|PMID:32048431|PMID:32893267 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:1100946|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12062363|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12808265|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16166152|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17823114|PMID:17905336|PMID:18004376|PMID:18093521|PMID:1813917|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18791070|PMID:18808722|PMID:18955593|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19172259|PMID:19306396|PMID:19352046|PMID:19371231|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20386770|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20950623|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23266818|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24223155|PMID:24363352|PMID:24388587|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:260666|PMID:26129877|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26633542|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28012188|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30615648|PMID:30662450 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:30704477|PMID:30758498|PMID:30844837|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31358886|PMID:31493592|PMID:31521807|PMID:31557540|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:32011662|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558|PMID:32392813|PMID:32475984|PMID:32843460|PMID:32893267|PMID:32940533|PMID:33029862|PMID:33198487|PMID:33258288|PMID:34002542|PMID:34135346|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:34930020|PMID:35253369|PMID:35932045|PMID:36102233|PMID:36203036|PMID:36269083|PMID:36339618|PMID:7889573|PMID:8700910|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:7240710 20180130 OMIM 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10735633|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10996323|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12175777|PMID:12354768|PMID:12402336|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15466642|PMID:15522280|PMID:15599693|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16253915|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17576861|PMID:17597962|PMID:17905336|PMID:18060054|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19673885|PMID:19716085|PMID:19731233|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21490315|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21779290|PMID:21806934|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22378279|PMID:22382559|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22876326|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23935525|PMID:23936059|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24334129|PMID:24363352|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24687331|PMID:24973560|PMID:25028483|PMID:25119684|PMID:25348405|PMID:25417810|PMID:25447171|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25914329|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27650965|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28166811|PMID:28255936|PMID:28302345|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28704380|PMID:28807990|PMID:28988457|PMID:29247119|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:30041777|PMID:30086531|PMID:30246897|PMID:30276209|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30996762|PMID:31337358|PMID:31358886|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31737537|PMID:32009526|PMID:32048431|PMID:32238909|PMID:32475984|PMID:34008892|PMID:34135346|PMID:34906502|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8914737 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:8995352|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10735633|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12175777|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15242738|PMID:15466642|PMID:15522280|PMID:15572053|PMID:15599693|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253915|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17576681|PMID:17597962|PMID:17905336|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22378279|PMID:22382559|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22764740|PMID:22876326|PMID:22927196|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283|PMID:23546015|PMID:23631430|PMID:23861362|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24334129|PMID:24363352|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24687331|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25294783|PMID:25417810|PMID:25447171|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27761169|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28255936|PMID:28280240|PMID:28302345|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28798025|PMID:28807990|PMID:28861002|PMID:28988457|PMID:29016939|PMID:29192238|PMID:29247119|PMID:29331839|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29925740|PMID:29957233|PMID:30041777|PMID:30086531|PMID:30246897|PMID:30276209|PMID:30327538|PMID:30369311|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30847666|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31628797|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34008892|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34841674|PMID:34906502|PMID:35688147|PMID:36102233|PMID:36197721|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8914737|PMID:8995352|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to | ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10735633|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12175777|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15242738|PMID:15466642|PMID:15522280|PMID:15541256|PMID:15572053|PMID:15599693|PMID:15733182|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253915|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17905336|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19172259|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20386770|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20950623|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21070882|PMID:21109023|PMID:21130900|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22378279|PMID:22382559|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22764740|PMID:22876326|PMID:22882672|PMID:22927196|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23124029|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23266818|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23351921|PMID:23382499|PMID:23465283|PMID:23546015|PMID:23631430|PMID:23861362|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24204727|PMID:24217263|PMID:24223155|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24687331|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25294783|PMID:25417810|PMID:25447171|PMID:255267|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:260666|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26633542|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27041150|PMID:27153395 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 | ClinVar Annotator: match by term: Long QT syndrome 2, acquired, susceptibility to | ClinVar Annotator: match by term: Long QT syndrome, bradycardia-induced PMID:27231019|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27761169|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28003625|PMID:28012188|PMID:28049825|PMID:28082916|PMID:28255936|PMID:28280240|PMID:28302345|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28861002|PMID:28988457|PMID:29016939|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29925740|PMID:29957233|PMID:30041777|PMID:30086531|PMID:30246897|PMID:30276209|PMID:30327538|PMID:30369311|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31521807|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31628797|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32011662|PMID:32038248|PMID:32048431|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32383558|PMID:32392813|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32843460|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34008892|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:34841674|PMID:34906502|PMID:34930020|PMID:35091851|PMID:35253369|PMID:35688147|PMID:35911527|PMID:35932045|PMID:36102233|PMID:36138163|PMID:36197721|PMID:36269083|PMID:36303204|PMID:36339618|PMID:37589201|PMID:543451|PMID:680268|PMID:7889573|PMID:805146|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8914737|PMID:8995352|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:0110650 long QT syndrome 9 ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/9, digenic PMID:14661677|PMID:15840476|PMID:17060380|PMID:19716085|PMID:19862833|PMID:22245016|PMID:22581653|PMID:23139254|PMID:23174487|PMID:23631430|PMID:23936059|PMID:24021552|PMID:24606995|PMID:25417810|PMID:25741868|PMID:25967940|PMID:26213684|PMID:26383259|PMID:26746457|PMID:27231019|PMID:28492532|PMID:30327538|PMID:30369311|PMID:30704477|PMID:31737537|PMID:32048431 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19716085|PMID:22581653|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:15176425|PMID:16244680|PMID:22402334|PMID:22581653|PMID:25741868|PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24830940 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15475579|PMID:15500450|PMID:15522280|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16923798|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18774102|PMID:18776039|PMID:18808722|PMID:18848812|PMID:18955593|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19352046|PMID:19371231|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20876384|PMID:20931094|PMID:20960616|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185499|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21769575|PMID:21779290|PMID:21806934|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22359612|PMID:22373669|PMID:22378279|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22617876|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23631430|PMID:23721480|PMID:23861362|PMID:23935525|PMID:23936059|PMID:23980196|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25967940|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26189708|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27650965|PMID:27761169|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28166811|PMID:28255936|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28606196|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29117522|PMID:29214556|PMID:29247119|PMID:29330128|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31737537|PMID:31882846|PMID:32009526|PMID:32048431|PMID:32238909|PMID:32475984|PMID:33258288|PMID:34135346|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9806971|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27650965|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28255936|PMID:28280240|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28532774|PMID:28606196|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29117522|PMID:29247119|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30369311|PMID:30530868|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31696929|PMID:31737537|PMID:31882846|PMID:32009526|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32383558|PMID:32475984|PMID:33258288|PMID:33517668|PMID:34135346|PMID:34309407|PMID:34502138|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960616|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22373669|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283|PMID:23470493 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25967940|PMID:25974115|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34426522|PMID:34502138|PMID:34841674|PMID:36197721|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20931094|PMID:20960616|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22373669|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23382499|PMID:23465283 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25819988|PMID:25914329|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34841674|PMID:35688147|PMID:36197721|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23351921|PMID:23382499|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23721480|PMID:23861362|PMID:23890619|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24725272|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25140878|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173150|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26228265|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29396286|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30036649|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30481776|PMID:30530868|PMID:30533098|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30770456|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31114860|PMID:31137166|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32145446|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34716268|PMID:34841674|PMID:35688147|PMID:36197721|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12771194|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15181157|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15475579|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16923798|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18692916|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:18955593|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19139152|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19174314|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19340359|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20133899|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20876384|PMID:20931094|PMID:20950623|PMID:20960616|PMID:20960620|PMID:20975234|PMID:20979233|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22359612|PMID:22373669|PMID:22378279|PMID:22382559|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22407026|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22821100|PMID:22876326|PMID:22882672 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23351921|PMID:23382499|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23721480|PMID:23861362|PMID:23890619|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24725272|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25140878|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25640679|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173150|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26228265|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29331839|PMID:29396286|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30036649|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30481776|PMID:30530868|PMID:30533098|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30770456|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31114860|PMID:31137166|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32145446|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:34716268|PMID:34841674|PMID:35688147|PMID:36197721|PMID:36203036|PMID:5417810|PMID:7889573|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12771194|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15181157|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15466642|PMID:15475579|PMID:15500450|PMID:15522280|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16923798|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18692916|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:18955593|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19139152|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19174314|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19340359|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20133899|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20386770|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20876384|PMID:20931094|PMID:20950623|PMID:20960616|PMID:20960620|PMID:20975234|PMID:20979233|PMID:21063070|PMID:21109023|PMID:21130771|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22359612|PMID:22373669|PMID:22378279|PMID:22382559|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22407026|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22821100|PMID:22876326 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23022675|PMID:23098067|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23351921|PMID:23382499|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23721480|PMID:23861362|PMID:23890619|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606930|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24725272|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25074935|PMID:25119684|PMID:25140878|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25640679|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:25987402|PMID:26063740|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173150|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26228265|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26633542|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28012188|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29305421|PMID:29330128|PMID:29331839|PMID:29396286|PMID:29431731|PMID:29497013|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29881912|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30036649|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30481776|PMID:30530868|PMID:30533098|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30770456|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31114860|PMID:31137166|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32038248|PMID:32048431|PMID:32145446|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34546463|PMID:34712263|PMID:34716268|PMID:34801551|PMID:34841674|PMID:34930020|PMID:35091851|PMID:35688147|PMID:35932045|PMID:36102233|PMID:36197721|PMID:36203036|PMID:36269083|PMID:36339618|PMID:5417810|PMID:7889573|PMID:8635257 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10220146|PMID:10226095|PMID:10483966|PMID:10508236|PMID:10517660|PMID:10560244|PMID:10690305|PMID:10720411|PMID:10735633|PMID:10744792|PMID:10753933|PMID:10807545|PMID:10841244|PMID:10862094|PMID:10862104|PMID:10973849|PMID:10987356|PMID:10996323|PMID:1100946|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11668641|PMID:11741928|PMID:11802537|PMID:11854117|PMID:11997281|PMID:12021266|PMID:12062363|PMID:12175777|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12442276|PMID:12477631|PMID:12554641|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12771194|PMID:12775564|PMID:12775586|PMID:12808265|PMID:12829173|PMID:12837749|PMID:12877697|PMID:14642687|PMID:14661677|PMID:14714110|PMID:14720170|PMID:14760488|PMID:14975928|PMID:14998624|PMID:15028050|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15181157|PMID:15242738|PMID:15280442|PMID:15364333|PMID:15371638|PMID:15466642|PMID:15475579|PMID:15500450|PMID:15522280|PMID:15541256|PMID:15545400|PMID:15572050|PMID:15572053|PMID:15599693|PMID:15635208|PMID:15670565|PMID:15699249|PMID:15733182|PMID:15746444|PMID:15760896|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15851228|PMID:15851652|PMID:15913580|PMID:16029385|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16166152|PMID:16199547|PMID:16244680|PMID:16253912|PMID:16253915|PMID:16265869|PMID:16361248|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16470702|PMID:16487223|PMID:16720674|PMID:16754261|PMID:16818214|PMID:16831322|PMID:16842670|PMID:16922724|PMID:16923798|PMID:16937190|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17438606|PMID:17438609|PMID:17445409|PMID:17531263|PMID:17560885|PMID:17569659|PMID:17576681|PMID:17576861|PMID:17597962|PMID:17823114|PMID:17876385|PMID:17905336|PMID:17908752|PMID:18004376|PMID:18060054|PMID:18093521|PMID:1813917|PMID:18218237|PMID:18222468|PMID:18222980|PMID:18348270|PMID:18362022|PMID:18386051|PMID:18426444|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18551196|PMID:18593567|PMID:18596570|PMID:18675227|PMID:18690032|PMID:18692916|PMID:18752142|PMID:18776039|PMID:18791070|PMID:18808722|PMID:18848812|PMID:18955593|PMID:19019189|PMID:19038855|PMID:19057127|PMID:19065538|PMID:19070294|PMID:19100075|PMID:19136169|PMID:19139152|PMID:19160088|PMID:19165230|PMID:19169982|PMID:19172259|PMID:19174314|PMID:19184172|PMID:19187913|PMID:19215240|PMID:19305409|PMID:19306396|PMID:19322600|PMID:19324319|PMID:19340359|PMID:19352046|PMID:19371231|PMID:19413965|PMID:19419905|PMID:19443486|PMID:19490267|PMID:19490382|PMID:19597050|PMID:19668779|PMID:19673885|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841298|PMID:19841299|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20133899|PMID:20167303|PMID:20181576|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20386770|PMID:20486126|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20674198|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20876384|PMID:20931094|PMID:20950623|PMID:20960616|PMID:20960620|PMID:20975234|PMID:20979233|PMID:21035456|PMID:21063070|PMID:21070882|PMID:21109023|PMID:21130771|PMID:21130900|PMID:21185501|PMID:21215473|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21490315|PMID:21496174|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21661061|PMID:21703926|PMID:21737021|PMID:21769575|PMID:21777565|PMID:21779290|PMID:21798421|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22245016|PMID:22314138|PMID:22359612|PMID:22373669|PMID:22378279|PMID:22382559|PMID:22396785|PMID:22402074|PMID:22402334 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:22407026|PMID:22429796|PMID:22515331|PMID:22573844|PMID:22580281|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23010577|PMID:23022675|PMID:23098067|PMID:23124029|PMID:23136156|PMID:23139254|PMID:23158531|PMID:231588531|PMID:23174487|PMID:23207121|PMID:23266818|PMID:23300672|PMID:23303164|PMID:23304551|PMID:23316740|PMID:23338923|PMID:23347029|PMID:23351921|PMID:23382499|PMID:23465283|PMID:23470493|PMID:23471968|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23721480|PMID:23861362|PMID:23890619|PMID:23899126|PMID:23935525|PMID:23936059|PMID:23975098|PMID:23980196|PMID:23995044|PMID:24015048|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24103226|PMID:24204727|PMID:24217263|PMID:24223155|PMID:24291113|PMID:24322056|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24400717|PMID:24530480|PMID:24596401|PMID:24606930|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24679481|PMID:24725272|PMID:24973560|PMID:25008322|PMID:25028483|PMID:25063820|PMID:25074935|PMID:25119684|PMID:25140878|PMID:25158096|PMID:25254341|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25417810|PMID:25447171|PMID:255267|PMID:25576780|PMID:25606385|PMID:25608792|PMID:25626866|PMID:25637381|PMID:25640679|PMID:25649125|PMID:25741868|PMID:25809256|PMID:25819988|PMID:25914329|PMID:25923442|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:25974115|PMID:25987402|PMID:26063740|PMID:260666|PMID:26066609|PMID:26105569|PMID:26129877|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173150|PMID:26187847|PMID:26189708|PMID:26213684|PMID:26220970|PMID:26228265|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26403377|PMID:26467025|PMID:26496715|PMID:26633542|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26846766|PMID:26847485|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27059892|PMID:27064559|PMID:27153395|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27379800|PMID:27492745|PMID:27555138|PMID:27650965|PMID:27711072|PMID:27761169|PMID:27803431|PMID:27807201|PMID:27816319|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28003625|PMID:28012188|PMID:28049825|PMID:28082916|PMID:28087566|PMID:28212739|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28280240|PMID:28292826|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491588|PMID:28492532|PMID:28532774|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749187|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29016939|PMID:29117522|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29305421|PMID:29330128|PMID:29331839|PMID:29396286|PMID:29431731|PMID:29497013|PMID:29517769|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29725305|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766883|PMID:29766885|PMID:29881912|PMID:29884292|PMID:29904349|PMID:29925740|PMID:29957233|PMID:30012873|PMID:30036649|PMID:30041777|PMID:30086531|PMID:30123799|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30481776|PMID:30530868|PMID:30533098|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30770456|PMID:30844837|PMID:30847666|PMID:30988392|PMID:30996762|PMID:31114860|PMID:31137166|PMID:31320904|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31521807|PMID:31522018|PMID:31535183|PMID:31539150|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:31882846|PMID:32009526|PMID:32011662|PMID:32038248|PMID:32048431|PMID:32145446|PMID:32191791|PMID:32233023|PMID:32238909|PMID:32253972|PMID:32311972|PMID:32321643 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:2843 long QT syndrome ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:32383558|PMID:32392813|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32843460|PMID:32893267|PMID:32940533|PMID:33029862|PMID:33190517|PMID:33198487|PMID:33258288|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34309407|PMID:34319147|PMID:34426522|PMID:34495297|PMID:34502138|PMID:34546463|PMID:34712263|PMID:34716268|PMID:34801551|PMID:34841674|PMID:34930020|PMID:35091851|PMID:35253369|PMID:35688147|PMID:35688148|PMID:35911527|PMID:35932045|PMID:36102233|PMID:36138163|PMID:36197721|PMID:36203036|PMID:36269083|PMID:36303204|PMID:36339618|PMID:37449562|PMID:37589201|PMID:5417810|PMID:543451|PMID:680268|PMID:7889573|PMID:805146|PMID:8635257|PMID:8700910|PMID:8799887|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9536098|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:10753933|PMID:20301308|PMID:21777565|PMID:25741868|PMID:28280240|PMID:28492532|PMID:31696929|PMID:32233023|PMID:32383558|PMID:32893267|PMID:37589201 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:630 genetic disease ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10220144|PMID:10753933|PMID:10973849|PMID:11170080|PMID:11222472|PMID:11854117|PMID:12354768|PMID:12566525|PMID:14714110|PMID:14998624|PMID:15120823|PMID:15280442|PMID:15840476|PMID:16253912|PMID:16379539|PMID:16432067|PMID:17088455|PMID:17171344|PMID:17560885|PMID:18386051|PMID:18441445|PMID:18593567|PMID:18808722|PMID:19324319|PMID:19716085|PMID:19841300|PMID:19843919|PMID:19862833|PMID:20197117|PMID:20975234|PMID:21185501|PMID:21367833|PMID:22402334|PMID:22515331|PMID:22581653|PMID:22821100|PMID:22949429|PMID:23158531|PMID:23303164|PMID:23470493|PMID:24606930|PMID:24606995|PMID:24623279|PMID:25417810|PMID:25741868|PMID:26669661|PMID:27251404|PMID:28492532|PMID:28855170|PMID:30276209|PMID:31696929|PMID:7889573|PMID:8877771 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:767 muscular atrophy ISO RGD:732101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16723379 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000059 Long QT Syndrome 2/5 ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/5, digenic PMID:10973849|PMID:11854117|PMID:15051636|PMID:22581653|PMID:24204727|PMID:25417810|PMID:25741868|PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732101 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10187793|PMID:10220144|PMID:10483966|PMID:10753933|PMID:10807545|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668641|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12175777|PMID:12402336|PMID:12621127|PMID:12775564|PMID:12808265|PMID:12829173|PMID:14661677|PMID:14760488|PMID:14975928|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15522280|PMID:15572050|PMID:15599693|PMID:15635208|PMID:15746444|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16166152|PMID:16244680|PMID:16253915|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16831322|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17531263|PMID:17576681|PMID:17576861|PMID:17597962|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19184172|PMID:19305409|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19804510|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:20167303|PMID:20181576|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20850565|PMID:20876384|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21536673|PMID:21777565|PMID:21779290|PMID:21911102|PMID:22245016|PMID:22359612|PMID:22378279|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24223155|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24667783|PMID:25028483|PMID:25119684|PMID:25294783|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27153395|PMID:27231019|PMID:27711072|PMID:27816319|PMID:27920829|PMID:27930701|PMID:28049825|PMID:28280240|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28794082|PMID:28798025|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29650123|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32048431|PMID:32145446|PMID:32233023|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32893267|PMID:33258288|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34712263|PMID:35688147|PMID:36197721|PMID:36203036|PMID:9536098|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732101 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10187793|PMID:10220144|PMID:10483966|PMID:10753933|PMID:10807545|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668641|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12175777|PMID:12402336|PMID:12621127|PMID:12775564|PMID:12808265|PMID:12829173|PMID:14661677|PMID:14760488|PMID:14975928|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15522280|PMID:15572050|PMID:15599693|PMID:15635208|PMID:15746444|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16166152|PMID:16244680|PMID:16253915|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16831322|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17531263|PMID:17576681|PMID:17576861|PMID:17597962|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19184172|PMID:19305409|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19804510|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:20167303|PMID:20181576|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20850565|PMID:20876384|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21536673|PMID:21777565|PMID:21779290|PMID:21911102|PMID:22245016|PMID:22359612|PMID:22378279|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24223155|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24667783|PMID:25028483|PMID:25119684|PMID:25294783|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26633542|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27153395|PMID:27231019|PMID:27711072|PMID:27816319|PMID:27920829|PMID:27930701|PMID:28049825|PMID:28280240|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28794082|PMID:28798025|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29650123|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32048431|PMID:32145446|PMID:32233023|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32893267|PMID:33258288|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34712263|PMID:35688147|PMID:35932045|PMID:36102233|PMID:36197721|PMID:36203036|PMID:36269083|PMID:36339618|PMID:9536098|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732101 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10187793|PMID:10220144|PMID:10483966|PMID:10753933|PMID:10807545|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668641|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12175777|PMID:12402336|PMID:12621127|PMID:12775564|PMID:12808265|PMID:12829173|PMID:14661677|PMID:14760488|PMID:14975928|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15522280|PMID:15572050|PMID:15599693|PMID:15635208|PMID:15746444|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16166152|PMID:16244680|PMID:16253915|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16831322|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17531263|PMID:17576681|PMID:17576861|PMID:17597962|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19019189|PMID:19038855|PMID:19184172|PMID:19305409|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19804510|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:20167303|PMID:20181576|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20850565|PMID:20876384|PMID:20950623|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21215473|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21536673|PMID:21777565|PMID:21779290|PMID:21911102|PMID:22245016|PMID:22359612|PMID:22378279|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24223155|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24667783|PMID:25028483|PMID:25119684|PMID:25294783|PMID:25351510|PMID:25417810|PMID:25447171|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:26066609|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26633542|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27153395|PMID:27231019|PMID:27711072|PMID:27816319|PMID:27920829|PMID:27930701|PMID:28012188|PMID:28049825|PMID:28280240|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28794082|PMID:28798025|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29650123|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31522018|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32048431|PMID:32145446|PMID:32233023|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32893267|PMID:33258288|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34319147|PMID:34426522|PMID:34502138|PMID:34712263|PMID:35688147|PMID:35932045|PMID:36102233|PMID:36197721|PMID:36203036|PMID:36269083|PMID:36339618|PMID:9536098|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10187793|PMID:10220144|PMID:10483966|PMID:10753933|PMID:10807545|PMID:10862094|PMID:10973849|PMID:1100946|PMID:11009462|PMID:11278781|PMID:11334843|PMID:11468227|PMID:11524404|PMID:11668641|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12175777|PMID:12402336|PMID:12621127|PMID:12775564|PMID:12808265|PMID:12829173|PMID:14661677|PMID:14760488|PMID:14975928|PMID:15051636|PMID:15090700|PMID:15176425|PMID:15522280|PMID:15541256|PMID:15572050|PMID:15599693|PMID:15635208|PMID:15733182|PMID:15746444|PMID:15840476|PMID:15851119|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16166152|PMID:16244680|PMID:16253915|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16720674|PMID:16831322|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17275752|PMID:17531263|PMID:17576681|PMID:17576861|PMID:17597962|PMID:18060054|PMID:1813917|PMID:18222468|PMID:18222980|PMID:18426444|PMID:18441445|PMID:18596570|PMID:18675227|PMID:18752142|PMID:18776039|PMID:18808722|PMID:18984536|PMID:19019189|PMID:19038855|PMID:19172259|PMID:19184172|PMID:19305409|PMID:19322600|PMID:19490267|PMID:19490382|PMID:19597050|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19804510|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:20167303|PMID:20181576|PMID:20301308|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20674198|PMID:20850565|PMID:20876384|PMID:20950623|PMID:21063070|PMID:21070882|PMID:21109023|PMID:21130900|PMID:21185501|PMID:21215473|PMID:21376840|PMID:21410720|PMID:21419236|PMID:21440677|PMID:21483829|PMID:21536673|PMID:21777565|PMID:21779290|PMID:21911102|PMID:22245016|PMID:22314138|PMID:22359612|PMID:22378279|PMID:22396785|PMID:22402074|PMID:22402334|PMID:22429796|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22677073|PMID:22727609|PMID:22764740|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22995991|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23266818|PMID:23303164|PMID:23304551|PMID:23338923|PMID:23347029|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24223155|PMID:24334129|PMID:24363352|PMID:24388587|PMID:24530480|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24667783|PMID:25028483|PMID:25119684|PMID:25294783|PMID:25351510|PMID:25417810|PMID:25447171|PMID:255267|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25925977|PMID:25929701|PMID:25947924|PMID:25967940|PMID:26063740|PMID:260666|PMID:26066609|PMID:26129877|PMID:26159999|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26220970|PMID:26332594|PMID:26383259|PMID:26467025|PMID:26633542|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26937405|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27026747|PMID:27041096|PMID:27153395|PMID:27231019|PMID:27711072|PMID:27807201|PMID:27816319|PMID:27920829|PMID:27930701|PMID:28012188|PMID:28049825|PMID:28280240|PMID:28302345|PMID:28349240|PMID:28360401|PMID:28431243|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28549997|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28861002|PMID:28912206|PMID:28988457|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29431731|PMID:29517769|PMID:29544605|PMID:29555771|PMID:29622001|PMID:29650123|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29759541|PMID:29766885|PMID:29884292|PMID:29925740|PMID:29957233|PMID:30036649|PMID:30086531|PMID:30244407|PMID:30246897|PMID:30276209|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30403391|PMID:30530868|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31448785|PMID:31493592|PMID:31521807|PMID:31522018|PMID:31557540|PMID:31589614|PMID:31618753|PMID:31696929|PMID:31737537|PMID:32009526|PMID:32048431|PMID:32145446|PMID:32233023|PMID:32383558|PMID:32475984|PMID:32508047 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:32843460|PMID:32893267|PMID:33029862|PMID:33190517|PMID:33258288|PMID:33764691|PMID:34002542|PMID:34135346|PMID:34319147|PMID:34426522|PMID:34495297|PMID:34502138|PMID:34546463|PMID:34712263|PMID:34930020|PMID:35688147|PMID:35932045|PMID:36102233|PMID:36197721|PMID:36203036|PMID:36269083|PMID:36303204|PMID:36339618|PMID:37589201|PMID:680268|PMID:9536098|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9001790 Long QT Syndrome 1/2 ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic PMID:10086971|PMID:10973849|PMID:16199547|PMID:16922724|PMID:19862833|PMID:20181576|PMID:21057041|PMID:21419236|PMID:22581653|PMID:25741868|PMID:26669661|PMID:27000522|PMID:28492532|PMID:30369311|PMID:31521807|PMID:32383558 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:17088455|PMID:19322600|PMID:19841300|PMID:21410720|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24334129|PMID:25637381|PMID:25741868|PMID:26159999|PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9002081 Long QT Syndrome 2/3 ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic PMID:16922724|PMID:22581653|PMID:25417810 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:11997281|PMID:14661677|PMID:14760488|PMID:15840476|PMID:16043162|PMID:16487223|PMID:19172259|PMID:19841300|PMID:22581653|PMID:22584458|PMID:22949429|PMID:23861362|PMID:24223155|PMID:25417810|PMID:25741868|PMID:27711072|PMID:28492532|PMID:30662450|PMID:34135346 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16086867 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9003163 Heart Block ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:17088455|PMID:19322600|PMID:19841300|PMID:21410720|PMID:22581653|PMID:22677073|PMID:23465283|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24334129|PMID:25637381|PMID:25741868|PMID:26159999|PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:732101 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CYP21 deficiency PMID:10973849|PMID:12566525|PMID:14714110|PMID:15840476|PMID:19324319|PMID:19716085|PMID:19841300|PMID:19862833|PMID:21185501|PMID:22515331|PMID:25741868|PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11113008|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14998624|PMID:15051636|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15280442|PMID:15466642|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17905336|PMID:18004376|PMID:18441445|PMID:18468596|PMID:18593567|PMID:18752142|PMID:18808722|PMID:19038855|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19490267|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20348026|PMID:20541041|PMID:20659946|PMID:20960620|PMID:21063070|PMID:21185501|PMID:21244686|PMID:21350584|PMID:21367833|PMID:21440677|PMID:21490315|PMID:21573751|PMID:21737021|PMID:22245016|PMID:22402334|PMID:22581653|PMID:22727609|PMID:22949429|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23470493|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24217263|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24973560|PMID:25158096|PMID:25254353|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25637381|PMID:25741868|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26746457|PMID:26847485|PMID:26958806|PMID:27000522|PMID:27041096|PMID:27231019|PMID:27251404|PMID:27803431|PMID:27871843|PMID:28082916|PMID:28349240|PMID:28431243|PMID:28492532|PMID:28532774|PMID:28794082|PMID:28855170|PMID:28988457|PMID:29247119|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29884292|PMID:30246897|PMID:30291343|PMID:30369311|PMID:30704477|PMID:30847666|PMID:31358886|PMID:31557540|PMID:32048431|PMID:32475984|PMID:7889573|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9694858|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:11009462|PMID:11113008|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12477631|PMID:12566525|PMID:12690509|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14998624|PMID:15051636|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15280442|PMID:15466642|PMID:15670565|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17905336|PMID:18004376|PMID:18441445|PMID:18468596|PMID:18593567|PMID:18752142|PMID:18808722|PMID:19038855|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19419905|PMID:19490267|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20348026|PMID:20541041|PMID:20659946|PMID:20960620|PMID:21063070|PMID:21185501|PMID:21244686|PMID:21350584|PMID:21367833|PMID:21440677|PMID:21490315|PMID:21536673|PMID:21573751|PMID:21737021|PMID:22245016|PMID:22396785|PMID:22402334|PMID:22573844|PMID:22581653|PMID:22727609|PMID:22949429|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23470493|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:24021552|PMID:24033266|PMID:24217263|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24973560|PMID:25158096|PMID:25254353|PMID:25417810|PMID:25576780|PMID:25637381|PMID:25741868|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:27000522|PMID:27041096|PMID:27231019|PMID:27251404|PMID:27803431|PMID:27871843|PMID:28082916|PMID:28349240|PMID:28431243|PMID:28492532|PMID:28532774|PMID:28794082|PMID:28855170|PMID:28988457|PMID:29247119|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29884292|PMID:30246897|PMID:30291343|PMID:30369311|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31358886|PMID:31557540|PMID:31737537|PMID:32048431|PMID:32475984|PMID:34502138|PMID:7889573|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9694858|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14998624|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17905336|PMID:18004376|PMID:18093521|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18752142|PMID:18791070|PMID:18808722|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20833965|PMID:20850565|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21185501|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22581653|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22885918|PMID:22927196|PMID:22949429|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24217263|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27871843|PMID:27920829|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30704477|PMID:30847666|PMID:31358886|PMID:31493592|PMID:31557540|PMID:31628797|PMID:31737537|PMID:31844156|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32893267|PMID:32940533|PMID:33198487|PMID:34002542|PMID:34502138|PMID:7889573|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12062363|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17823114|PMID:17905336|PMID:18004376|PMID:18093521|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18675227|PMID:18752142|PMID:18791070|PMID:18808722|PMID:18955593|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19371231|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20950623|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22885918|PMID:22927196|PMID:22949429|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24217263|PMID:24223155|PMID:24363352|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27871843|PMID:27920829|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31358886|PMID:31493592|PMID:31557540|PMID:31628797|PMID:31737537|PMID:31844156|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558|PMID:32475984|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:34002542|PMID:34135346|PMID:34426522|PMID:34502138|PMID:34712263|PMID:36203036 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:7889573|PMID:8700910|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12062363|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17823114|PMID:17905336|PMID:18004376|PMID:18093521|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18675227|PMID:18752142|PMID:18791070|PMID:18808722|PMID:18955593|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19306396|PMID:19352046|PMID:19371231|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20386770|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20950623|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22949429|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24217263|PMID:24223155|PMID:24363352|PMID:24388587|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:26129877|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26633542|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27871843|PMID:27920829|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31358886|PMID:31493592|PMID:31557540|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558|PMID:32475984 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:32893267|PMID:32940533|PMID:33198487|PMID:33258288|PMID:34002542|PMID:34135346|PMID:34426522|PMID:34502138|PMID:34712263|PMID:34930020|PMID:35932045|PMID:36203036|PMID:36269083|PMID:36339618|PMID:7889573|PMID:8700910|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10086971|PMID:10187793|PMID:10220144|PMID:10226095|PMID:10483966|PMID:10560244|PMID:10690305|PMID:10753933|PMID:10841244|PMID:10862094|PMID:10973849|PMID:10987356|PMID:10996323|PMID:1100946|PMID:11009462|PMID:11113008|PMID:11170080|PMID:11222472|PMID:11278781|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11741928|PMID:11854117|PMID:11997281|PMID:12062363|PMID:12270925|PMID:12354768|PMID:12402336|PMID:12407082|PMID:12477631|PMID:12566525|PMID:12621127|PMID:12690509|PMID:12741719|PMID:12775586|PMID:12808265|PMID:12837749|PMID:12877697|PMID:14661677|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15043509|PMID:15051636|PMID:15090700|PMID:15120823|PMID:15159330|PMID:15176425|PMID:15242738|PMID:15280442|PMID:15466642|PMID:15500450|PMID:15545400|PMID:15635208|PMID:15840476|PMID:15851119|PMID:15851652|PMID:16155735|PMID:16244680|PMID:16253912|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16831322|PMID:16842670|PMID:16922724|PMID:17060380|PMID:17088455|PMID:17160940|PMID:17161064|PMID:17171344|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17445409|PMID:17569659|PMID:17823114|PMID:17905336|PMID:18004376|PMID:18093521|PMID:1813917|PMID:18222468|PMID:18386051|PMID:18441445|PMID:18464931|PMID:18468596|PMID:18508782|PMID:18593567|PMID:18675227|PMID:18752142|PMID:18791070|PMID:18808722|PMID:18955593|PMID:19038855|PMID:19057127|PMID:19070294|PMID:19160088|PMID:19169982|PMID:19172259|PMID:19306396|PMID:19352046|PMID:19371231|PMID:19490267|PMID:19694797|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20197117|PMID:20301308|PMID:20348026|PMID:20386770|PMID:20541041|PMID:20544339|PMID:20659946|PMID:20670193|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20950623|PMID:20960620|PMID:20975234|PMID:21063070|PMID:21109023|PMID:21185501|PMID:21216356|PMID:21240260|PMID:21244686|PMID:21295269|PMID:21308345|PMID:21350584|PMID:21367833|PMID:21376840|PMID:21440677|PMID:21490315|PMID:21499742|PMID:21536673|PMID:21573751|PMID:21703926|PMID:21737021|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:21960720|PMID:22245016|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22581653|PMID:22584458|PMID:22653970|PMID:22727609|PMID:22821100|PMID:22876326|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22949429|PMID:23022675|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23266818|PMID:23303164|PMID:23316740|PMID:23338923|PMID:23465283|PMID:23470493|PMID:23546015|PMID:23555008|PMID:23631430|PMID:23861362|PMID:23936059|PMID:23975098|PMID:23995044|PMID:24021552|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24217263|PMID:24223155|PMID:24363352|PMID:24388587|PMID:24606995|PMID:24623279|PMID:24631775|PMID:24667783|PMID:24973560|PMID:25119684|PMID:25158096|PMID:25254353|PMID:25294783|PMID:25348405|PMID:25417810|PMID:25576780|PMID:25608792|PMID:25637381|PMID:25741868|PMID:25819988|PMID:25925977|PMID:25967940|PMID:26063740|PMID:260666|PMID:26129877|PMID:26164358|PMID:26187847|PMID:26213684|PMID:26330336|PMID:26332594|PMID:26383259|PMID:26496715|PMID:26633542|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26847485|PMID:26958806|PMID:26986070|PMID:27000522|PMID:27025590|PMID:27041096|PMID:27059892|PMID:27064559|PMID:27231019|PMID:27251404|PMID:27261823|PMID:27492745|PMID:27555138|PMID:27803431|PMID:27816319|PMID:27871843|PMID:27920829|PMID:28012188|PMID:28082916|PMID:28292826|PMID:28349240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28855170|PMID:28861002|PMID:28988457|PMID:29247119|PMID:29330128|PMID:29331839|PMID:29431731|PMID:29544605|PMID:29622001|PMID:29661707|PMID:29672598|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29957233|PMID:30012873|PMID:30123799|PMID:30246897|PMID:30291343|PMID:30327538|PMID:30369311|PMID:30615648|PMID:30662450|PMID:30704477|PMID:30758498|PMID:30844837|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31358886|PMID:31493592 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:31521807|PMID:31557540|PMID:31628797|PMID:31696929|PMID:31737537|PMID:31844156|PMID:32011662|PMID:32038248|PMID:32048431|PMID:32311972|PMID:32383558|PMID:32392813|PMID:32475984|PMID:32843460|PMID:32893267|PMID:32940533|PMID:33029862|PMID:33198487|PMID:33258288|PMID:34002542|PMID:34135346|PMID:34426522|PMID:34502138|PMID:34712263|PMID:34930020|PMID:35253369|PMID:35932045|PMID:36102233|PMID:36203036|PMID:36269083|PMID:36339618|PMID:7889573|PMID:8700910|PMID:8877771|PMID:8914737|PMID:9024139|PMID:9452080|PMID:9544837|PMID:9600240|PMID:9693036|PMID:9694858|PMID:9721698|PMID:9927399 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005444 Torsades de Pointes ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:11468227|PMID:12775564|PMID:14661677|PMID:14975928|PMID:15522280|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17275752|PMID:19019189|PMID:19673885|PMID:19841300|PMID:20167303|PMID:22581653|PMID:23303164|PMID:23861362|PMID:24596401|PMID:25741868|PMID:26467025|PMID:26746457|PMID:27153395|PMID:28472724|PMID:28492532|PMID:29752375|PMID:29759541 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005764 Short QT Syndrome 1 ISO RGD:732101 D RGD:7240710 20180130 OMIM 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9005764 Short QT Syndrome 1 ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: KCNH2-related condition | ClinVar Annotator: match by term: KCNH2-related disorders | ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:10187793|PMID:10220144|PMID:10483966|PMID:10753933|PMID:10807545|PMID:10862094|PMID:10973849|PMID:11173780|PMID:11222472|PMID:11468227|PMID:11524404|PMID:11668638|PMID:11854117|PMID:11997281|PMID:12402336|PMID:12407082|PMID:12566525|PMID:12808265|PMID:12829173|PMID:12877697|PMID:12925462|PMID:14661677|PMID:14676148|PMID:14720170|PMID:14760488|PMID:14998624|PMID:15051636|PMID:15176425|PMID:15466642|PMID:15599693|PMID:15670565|PMID:15828882|PMID:15840476|PMID:15913580|PMID:16043162|PMID:16116052|PMID:16132053|PMID:16155735|PMID:16244680|PMID:16379539|PMID:16414944|PMID:16432067|PMID:16487223|PMID:16754261|PMID:16818214|PMID:16842670|PMID:16922724|PMID:17088455|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17576681|PMID:17905336|PMID:18060054|PMID:18222468|PMID:18222980|PMID:18441445|PMID:18464931|PMID:18593567|PMID:18675227|PMID:18690032|PMID:18752142|PMID:18776039|PMID:18808722|PMID:19088443|PMID:19160088|PMID:19419905|PMID:19439805|PMID:19490267|PMID:19501051|PMID:19597050|PMID:19673885|PMID:19695459|PMID:19716085|PMID:19731233|PMID:19804510|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19926013|PMID:19996378|PMID:20301308|PMID:20541041|PMID:20659946|PMID:20833965|PMID:20850565|PMID:20851114|PMID:20950623|PMID:21070882|PMID:21130900|PMID:21350584|PMID:21536673|PMID:21777565|PMID:21806934|PMID:21911102|PMID:21956039|PMID:22052944|PMID:22067087|PMID:22173492|PMID:22194679|PMID:22314138|PMID:22378279|PMID:22396785|PMID:22402334|PMID:22429796|PMID:22573844|PMID:22581653|PMID:22584458|PMID:22677073|PMID:22764740|PMID:22876326|PMID:22882672|PMID:2294929|PMID:22949429|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23303164|PMID:23338923|PMID:23465283|PMID:23631430|PMID:23861362|PMID:23995044|PMID:24033266|PMID:24055113|PMID:24057343|PMID:24204727|PMID:24363352|PMID:24388587|PMID:24606995|PMID:24631775|PMID:24973560|PMID:25140878|PMID:25348405|PMID:25417810|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25925977|PMID:25947924|PMID:25967940|PMID:26063740|PMID:260666|PMID:26066609|PMID:26105569|PMID:26164358|PMID:26187847|PMID:26467025|PMID:26496715|PMID:26633542|PMID:26669661|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26746457|PMID:26958806|PMID:27000522|PMID:27041096|PMID:27492745|PMID:27650965|PMID:27711072|PMID:27816319|PMID:27920829|PMID:28003625|PMID:28012188|PMID:28255936|PMID:28280240|PMID:28431243|PMID:28449774|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28589536|PMID:28606196|PMID:2870438|PMID:28704380|PMID:28807990|PMID:28861002|PMID:28988457|PMID:29016939|PMID:29192238|PMID:29247119|PMID:29255176|PMID:29331839|PMID:29544605|PMID:29622001|PMID:29672598|PMID:29727688|PMID:29752375|PMID:29766885|PMID:29884292|PMID:29925740|PMID:30086531|PMID:30246897|PMID:30327538|PMID:30369311|PMID:30530868|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30996762|PMID:31114860|PMID:31337358|PMID:31358886|PMID:31493592|PMID:31521807|PMID:31539150|PMID:31557540|PMID:31618753|PMID:31628797|PMID:31696929|PMID:31737537|PMID:32038248|PMID:32048431|PMID:32233023|PMID:32383558|PMID:32475984|PMID:32508047|PMID:32659924|PMID:32893267|PMID:32940533|PMID:33198487|PMID:33517668|PMID:33764691|PMID:34002542|PMID:34309407|PMID:34426522|PMID:34502138|PMID:34712263|PMID:34841674|PMID:34930020|PMID:35688147|PMID:35932045|PMID:36269083|PMID:36303204|PMID:36339618|PMID:37589201|PMID:7889573|PMID:8700910|PMID:9536098|PMID:9544837|PMID:9694858 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007 sudden infant death syndrome ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:15913580|PMID:17210839|PMID:18222468|PMID:18596570|PMID:18675227|PMID:20674198|PMID:21215473|PMID:22581653|PMID:22995991|PMID:23304551|PMID:24223155|PMID:25417810|PMID:25741868|PMID:26129877|PMID:26332594|PMID:27026747|PMID:27930701|PMID:28492532|PMID:29752375|PMID:30369311|PMID:31696929 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24830940 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007820 Sudden Death ISO RGD:732101 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:11468227|PMID:12775564|PMID:14661677|PMID:14975928|PMID:15522280|PMID:15840476|PMID:16487223|PMID:17161064|PMID:17210839|PMID:17275752|PMID:19019189|PMID:19673885|PMID:19841300|PMID:20167303|PMID:22581653|PMID:23303164|PMID:23861362|PMID:24596401|PMID:25741868|PMID:26467025|PMID:26746457|PMID:27153395|PMID:28472724|PMID:28492532|PMID:29752375|PMID:29759541|PMID:32893267 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:732101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:18508782|PMID:19716085|PMID:22581653|PMID:25417810|PMID:25741868|PMID:26704558|PMID:28492532|PMID:29725305|PMID:32475984 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:732101 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868|PMID:28492532 8888636 Kcnh2 potassium voltage-gated channel subfamily H member 2 gene DOID:9970 obesity ISO RGD:732101 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Obesity PMID:10753933|PMID:10973849|PMID:11113008|PMID:11468227|PMID:11668638|PMID:11854117|PMID:12354768|PMID:15051636|PMID:15840476|PMID:16432067|PMID:17160940|PMID:17445409|PMID:18441445|PMID:18593567|PMID:19716085|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23303164|PMID:24606995|PMID:24623279|PMID:24667783|PMID:25741868|PMID:26847485|PMID:28492532|PMID:29672598|PMID:30246897|PMID:7889573|PMID:9024139|PMID:9927399 8888662 Sdhaf4 succinate dehydrogenase complex assembly factor 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319486 D RGD:9068941 20240307 MouseDO 8888662 Sdhaf4 succinate dehydrogenase complex assembly factor 4 gene DOID:630 genetic disease ISO RGD:1319485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888670 Frat1 FRAT regulator of WNT signaling pathway 1 gene DOID:630 genetic disease ISO RGD:1604648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888683 Cbx5 chromobox 5 gene DOID:10283 prostate cancer ISO RGD:1315340 D RGD:9068941 20200609 RGD protein:increased expression:prostate: PMID:18436254|REF_RGD_ID:9586744 8888683 Cbx5 chromobox 5 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1315340 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung: PMID:22900142|REF_RGD_ID:9586743 8888683 Cbx5 chromobox 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315340 D RGD:9068941 20200609 RGD associated with Lung Neoplasms; PMID:22900142|REF_RGD_ID:9586743 8888683 Cbx5 chromobox 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8888683 Cbx5 chromobox 5 gene DOID:9005172 Lung Neoplasms ISO RGD:1315340 D RGD:9068941 20200609 RGD PMID:22900142|REF_RGD_ID:9586743 8888683 Cbx5 chromobox 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8888703 Cep68 centrosomal protein 68 gene DOID:0060224 atrial fibrillation ISO RGD:1319252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8888703 Cep68 centrosomal protein 68 gene DOID:630 genetic disease ISO RGD:1319252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888714 Pcdh17 protocadherin 17 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1312379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8888714 Pcdh17 protocadherin 17 gene DOID:630 genetic disease ISO RGD:1312379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888727 Shh sonic hedgehog signaling molecule gene DOID:0050651 atrioventricular septal defect ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:19538633|REF_RGD_ID:12801428 8888727 Shh sonic hedgehog signaling molecule gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:12926841|REF_RGD_ID:12801414 8888727 Shh sonic hedgehog signaling molecule gene DOID:0060041 autism spectrum disorder ISO RGD:736829 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26691363|REF_RGD_ID:11561296 8888727 Shh sonic hedgehog signaling molecule gene DOID:0060041 autism spectrum disorder severity ISO RGD:736829 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21984201|REF_RGD_ID:12801412 8888727 Shh sonic hedgehog signaling molecule gene DOID:0060071 pre-malignant neoplasm ISO RGD:3673 D RGD:9068941 20211105 RGD PMID:30537251|REF_RGD_ID:150520178 8888727 Shh sonic hedgehog signaling molecule gene DOID:0060857 septooptic dysplasia ISO RGD:736829 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:25741868|PMID:35885948 8888727 Shh sonic hedgehog signaling molecule gene DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:15292211|PMID:22897141|PMID:25741868|PMID:28492532|PMID:29205322|PMID:9302262 8888727 Shh sonic hedgehog signaling molecule gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:25003913|REF_RGD_ID:12801416 8888727 Shh sonic hedgehog signaling molecule gene DOID:0080855 Parkinsonism treatment ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:25030123|REF_RGD_ID:12859032 8888727 Shh sonic hedgehog signaling molecule gene DOID:0110875 holoprosencephaly 3 ISO RGD:736829 D RGD:7240710 20180130 OMIM 8888727 Shh sonic hedgehog signaling molecule gene DOID:0110875 holoprosencephaly 3 ISO RGD:736829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10479723|PMID:10556296|PMID:10631160|PMID:10749657|PMID:11471164|PMID:11479728|PMID:11857543|PMID:11919111|PMID:12503095|PMID:12567406|PMID:12709790|PMID:15107988|PMID:15292211|PMID:15942944|PMID:15942952|PMID:16199547|PMID:16254195|PMID:16282375|PMID:18655123|PMID:19057928|PMID:19478089|PMID:19533790|PMID:19561609|PMID:19603532|PMID:19920144|PMID:20157829|PMID:20425842|PMID:21416594|PMID:21940735|PMID:21976454|PMID:22354285|PMID:22683912|PMID:22791840|PMID:22859937|PMID:22897141|PMID:23370340|PMID:23476075|PMID:24033266|PMID:24095820|PMID:25569381|PMID:25741868|PMID:26467025|PMID:28127823|PMID:28284480|PMID:28492532|PMID:28518168|PMID:28588853|PMID:29205322|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32022405|PMID:32461654|PMID:32677110|PMID:32939873|PMID:8896572|PMID:9302262|PMID:9600232 8888727 Shh sonic hedgehog signaling molecule gene DOID:0110964 brachydactyly type A1 ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:15841179|REF_RGD_ID:12798572 8888727 Shh sonic hedgehog signaling molecule gene DOID:0111380 solitary median maxillary central incisor ISO RGD:736829 D RGD:7240710 20180130 OMIM 8888727 Shh sonic hedgehog signaling molecule gene DOID:0111380 solitary median maxillary central incisor ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome PMID:11471164|PMID:12567406|PMID:15103725|PMID:15292211|PMID:25741868|PMID:28492532|PMID:32939873|PMID:9302262 8888727 Shh sonic hedgehog signaling molecule gene DOID:0111564 hypoplastic or aplastic tibia with polydactyly ISO RGD:736829 D RGD:9068941 20200609 RGD DNA:point mutations:enhancer:404G>A, 404G>C (human) PMID:19847792|REF_RGD_ID:12801438 8888727 Shh sonic hedgehog signaling molecule gene DOID:0111818 syndactyly type 4 ISO RGD:736829 D RGD:9068941 20200609 RGD DNA:duplication:enhancer PMID:18417549|REF_RGD_ID:12801418 8888727 Shh sonic hedgehog signaling molecule gene DOID:10487 Hirschsprung's disease ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:20972907|REF_RGD_ID:12801434 8888727 Shh sonic hedgehog signaling molecule gene DOID:10534 stomach cancer disease_progression ISO RGD:736829 D RGD:9068941 20211126 RGD PMID:22456124|REF_RGD_ID:150523844 8888727 Shh sonic hedgehog signaling molecule gene DOID:10629 microphthalmia ISO RGD:736829 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:31690747|PMID:32472575 8888727 Shh sonic hedgehog signaling molecule gene DOID:10976 membranous glomerulonephritis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:24744439|REF_RGD_ID:12859042 8888727 Shh sonic hedgehog signaling molecule gene DOID:1148 polydactyly ISO RGD:736829 D RGD:9068941 20200609 RGD DNA:point mutation:enhancer:g.106954C>T (human) PMID:22903933|REF_RGD_ID:12801449 8888727 Shh sonic hedgehog signaling molecule gene DOID:1148 polydactyly ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:10021368|PMID:14597572|REF_RGD_ID:12801421|REF_RGD_ID:12801429 8888727 Shh sonic hedgehog signaling molecule gene DOID:12849 autistic disorder ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8888727 Shh sonic hedgehog signaling molecule gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:24744439|REF_RGD_ID:12859042 8888727 Shh sonic hedgehog signaling molecule gene DOID:13548 secondary Parkinson disease ISO RGD:736829 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11771942 8888727 Shh sonic hedgehog signaling molecule gene DOID:13608 biliary atresia disease_progression ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:25746691|REF_RGD_ID:12802349 8888727 Shh sonic hedgehog signaling molecule gene DOID:1459 hypothyroidism ISO RGD:3673 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum PMID:18827446|REF_RGD_ID:2306294 8888727 Shh sonic hedgehog signaling molecule gene DOID:14679 VACTERL association ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:12632369|REF_RGD_ID:12801426 8888727 Shh sonic hedgehog signaling molecule gene DOID:2377 multiple sclerosis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:18991353|REF_RGD_ID:12801440 8888727 Shh sonic hedgehog signaling molecule gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:9115210|REF_RGD_ID:12802345 8888727 Shh sonic hedgehog signaling molecule gene DOID:2513 basal cell carcinoma ISO RGD:736829 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:skin of body PMID:23284750|REF_RGD_ID:12801452 8888727 Shh sonic hedgehog signaling molecule gene DOID:2986 IgA glomerulonephritis ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:24744439|REF_RGD_ID:12859042 8888727 Shh sonic hedgehog signaling molecule gene DOID:3213 demyelinating disease treatment ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:15128833|REF_RGD_ID:12801445 8888727 Shh sonic hedgehog signaling molecule gene DOID:3328 temporal lobe epilepsy ISO RGD:3673 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, temporal cortex PMID:21376786|REF_RGD_ID:12859046 8888727 Shh sonic hedgehog signaling molecule gene DOID:3328 temporal lobe epilepsy ISO RGD:736829 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex PMID:21376786|REF_RGD_ID:12859046 8888727 Shh sonic hedgehog signaling molecule gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:22324418|REF_RGD_ID:12879461 8888727 Shh sonic hedgehog signaling molecule gene DOID:4621 holoprosencephaly ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:29584859 8888727 Shh sonic hedgehog signaling molecule gene DOID:4621 holoprosencephaly treatment ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:18338389|REF_RGD_ID:12801437 8888727 Shh sonic hedgehog signaling molecule gene DOID:5199 ureteral obstruction ISO RGD:736830 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nephron tubule epithelium PMID:22302193|REF_RGD_ID:12859047 8888727 Shh sonic hedgehog signaling molecule gene DOID:5844 myocardial infarction treatment ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:20052412|REF_RGD_ID:12879408 8888727 Shh sonic hedgehog signaling molecule gene DOID:630 genetic disease ISO RGD:736829 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479728|PMID:15292211|PMID:19603532|PMID:22897141|PMID:23476075|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28518168|PMID:32461654 8888727 Shh sonic hedgehog signaling molecule gene DOID:674 cleft palate ISO RGD:733158 D RGD:9068941 20200609 RGD PMID:17097601|REF_RGD_ID:12801424 8888727 Shh sonic hedgehog signaling molecule gene DOID:684 hepatocellular carcinoma ISO RGD:736829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 8888727 Shh sonic hedgehog signaling molecule gene DOID:784 chronic kidney disease ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:24744439|REF_RGD_ID:12859042 8888727 Shh sonic hedgehog signaling molecule gene DOID:784 chronic kidney disease ISO RGD:736830 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:24744439|REF_RGD_ID:12859042 8888727 Shh sonic hedgehog signaling molecule gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:24837681|REF_RGD_ID:12879409 8888727 Shh sonic hedgehog signaling molecule gene DOID:9000392 Fluoride Poisoning ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:25623978|REF_RGD_ID:12879410 8888727 Shh sonic hedgehog signaling molecule gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3673 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:23933201|REF_RGD_ID:12859044 8888727 Shh sonic hedgehog signaling molecule gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:22994531|REF_RGD_ID:12879407 8888727 Shh sonic hedgehog signaling molecule gene DOID:9001276 Failure to Thrive ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 8888727 Shh sonic hedgehog signaling molecule gene DOID:9001471 Anorectal Malformations ISO RGD:3673 D RGD:9068941 20200609 RGD mRNA:decreased expression:hindgut PMID:17161201|REF_RGD_ID:1599527 8888727 Shh sonic hedgehog signaling molecule gene DOID:9001471 Anorectal Malformations ISO RGD:736829 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, rectum PMID:25148746|REF_RGD_ID:12798569 8888727 Shh sonic hedgehog signaling molecule gene DOID:9001471 Anorectal Malformations severity ISO RGD:736829 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:rectum PMID:20146882|REF_RGD_ID:12798571 8888727 Shh sonic hedgehog signaling molecule gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:25821409|REF_RGD_ID:12879456 8888727 Shh sonic hedgehog signaling molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:15892298|REF_RGD_ID:12801423 8888727 Shh sonic hedgehog signaling molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:18991353|REF_RGD_ID:12801440 8888727 Shh sonic hedgehog signaling molecule gene DOID:9002811 Facial Dysmorphism with Multiple Malformations ISO RGD:736829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 8888727 Shh sonic hedgehog signaling molecule gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:736829 D RGD:9068941 20200609 RGD DNA:duplication:enhancer PMID:18417549|REF_RGD_ID:12801418 8888727 Shh sonic hedgehog signaling molecule gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:3673 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:22641469|REF_RGD_ID:12859031 8888727 Shh sonic hedgehog signaling molecule gene DOID:9004387 Isolated Microphthalmia with Coloboma 5 ISO RGD:736829 D RGD:7240710 20180130 OMIM 8888727 Shh sonic hedgehog signaling molecule gene DOID:9004387 Isolated Microphthalmia with Coloboma 5 ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5 PMID:10556296|PMID:12503095|PMID:15292211|PMID:18414213|PMID:20425842|PMID:25741868|PMID:28492532|PMID:32939873|PMID:9302262 8888727 Shh sonic hedgehog signaling molecule gene DOID:9005351 Persistent Cloaca ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:24524909|REF_RGD_ID:12801442 8888727 Shh sonic hedgehog signaling molecule gene DOID:9005351 Persistent Cloaca ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:24524909|REF_RGD_ID:12801442 8888727 Shh sonic hedgehog signaling molecule gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:736830 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:24744439|REF_RGD_ID:12859042 8888727 Shh sonic hedgehog signaling molecule gene DOID:9006294 Congenital Limb Deformities ISO RGD:736830 D RGD:9068941 20200609 RGD PMID:15677727|REF_RGD_ID:12801441 8888727 Shh sonic hedgehog signaling molecule gene DOID:9006637 Schizencephaly ISO RGD:736829 D RGD:7240710 20190327 OMIM 8888727 Shh sonic hedgehog signaling molecule gene DOID:9006637 Schizencephaly ISO RGD:736829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizencephaly PMID:10556296|PMID:12709790|PMID:15292211|PMID:18655123|PMID:19533790|PMID:19603532|PMID:19920144|PMID:20157829|PMID:20425842|PMID:21416594|PMID:25741868|PMID:26467025|PMID:28127823|PMID:28492532|PMID:32939873|PMID:9302262 8888727 Shh sonic hedgehog signaling molecule gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum 8888727 Shh sonic hedgehog signaling molecule gene DOID:9007798 Preaxial Polydactyly II ISO RGD:736829 D RGD:9068941 20200609 RGD PMID:18463159|PMID:20569257|REF_RGD_ID:12801447|REF_RGD_ID:12801448 8888727 Shh sonic hedgehog signaling molecule gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3673 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:18228117|REF_RGD_ID:2306299 8888727 Shh sonic hedgehog signaling molecule gene DOID:9008296 Eye Abnormalities ISO RGD:736829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24973920 8888727 Shh sonic hedgehog signaling molecule gene DOID:9250 acrocallosal syndrome ISO RGD:736829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:25741868|PMID:29321670 8888727 Shh sonic hedgehog signaling molecule gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:736829 D RGD:9068941 20211105 RGD PMID:17007023|REF_RGD_ID:150520173 8888727 Shh sonic hedgehog signaling molecule gene DOID:9256 colorectal cancer ISO RGD:736829 D RGD:9068941 20211105 RGD PMID:22901214|REF_RGD_ID:150520174 8888727 Shh sonic hedgehog signaling molecule gene DOID:9282 ocular hypertension ISO RGD:3673 D RGD:9068941 20200609 RGD PMID:20071678|REF_RGD_ID:2324982 8888737 Snrpb2 small nuclear ribonucleoprotein polypeptide B2 gene DOID:14566 disease of cellular proliferation ISO RGD:1320950 D RGD:9068941 20200609 RGD mRNA:altered expression:multiple (human) PMID:18519667|REF_RGD_ID:10755689 8888737 Snrpb2 small nuclear ribonucleoprotein polypeptide B2 gene DOID:630 genetic disease ISO RGD:1320950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888737 Snrpb2 small nuclear ribonucleoprotein polypeptide B2 gene DOID:65 connective tissue disease ISO RGD:1320950 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 8888748 Clns1a chloride nucleotide-sensitive channel 1A gene DOID:1059 intellectual disability ISO RGD:732210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8888748 Clns1a chloride nucleotide-sensitive channel 1A gene DOID:1909 melanoma ISO RGD:732210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8888748 Clns1a chloride nucleotide-sensitive channel 1A gene DOID:630 genetic disease ISO RGD:732210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888817 Capsl calcyphosine like gene DOID:630 genetic disease ISO RGD:1601932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888817 Capsl calcyphosine like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8888838 Ecpas Ecm29 proteasome adaptor and scaffold gene DOID:630 genetic disease ISO RGD:1314598 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888891 Prr12 proline rich 12 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8888891 Prr12 proline rich 12 gene DOID:1059 intellectual disability ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8888891 Prr12 proline rich 12 gene DOID:10629 microphthalmia ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: complex microphthalmia PMID:33314030 8888891 Prr12 proline rich 12 gene DOID:12849 autistic disorder ISO RGD:1320487 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:29556724|PMID:33824499 8888891 Prr12 proline rich 12 gene DOID:630 genetic disease ISO RGD:1320487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8888891 Prr12 proline rich 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320487 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27479843|PMID:28135719|PMID:29556724|PMID:33824499 8888891 Prr12 proline rich 12 gene DOID:9004543 NEUROOCULAR SYNDROME ISO RGD:1320487 D RGD:7240710 20211027 OMIM 8888891 Prr12 proline rich 12 gene DOID:9004543 NEUROOCULAR SYNDROME ISO RGD:1320487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroocular syndrome PMID:25741868|PMID:29556724|PMID:33314030|PMID:33824499 8888944 Tbc1d23 TBC1 domain family member 23 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1601860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:28823707 8888944 Tbc1d23 TBC1 domain family member 23 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1601860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:28823707 8888944 Tbc1d23 TBC1 domain family member 23 gene DOID:0112324 pontocerebellar hypoplasia type 11 ISO RGD:1601860 D RGD:7240710 20190315 OMIM 8888944 Tbc1d23 TBC1 domain family member 23 gene DOID:0112324 pontocerebellar hypoplasia type 11 ISO RGD:1601860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 11 PMID:25741868|PMID:28823706|PMID:28823707 8888944 Tbc1d23 TBC1 domain family member 23 gene DOID:630 genetic disease ISO RGD:1601860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888967 Lipg lipase G, endothelial type gene DOID:1059 intellectual disability ISO RGD:1321819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8888967 Lipg lipase G, endothelial type gene DOID:10763 hypertension ISO RGD:1310740 D RGD:9068941 20200609 RGD PMID:15914124|REF_RGD_ID:1581875 8888967 Lipg lipase G, endothelial type gene DOID:1287 cardiovascular system disease ISO RGD:1321819 D RGD:9068941 20200609 RGD PMID:16023652|REF_RGD_ID:1580864 8888967 Lipg lipase G, endothelial type gene DOID:2349 arteriosclerosis ISO RGD:1321820 D RGD:9068941 20200609 RGD PMID:15304490|REF_RGD_ID:1581874 8888967 Lipg lipase G, endothelial type gene DOID:3393 coronary artery disease ISO RGD:1321819 D RGD:9068941 20200609 RGD PMID:16354105|REF_RGD_ID:1580865 8888967 Lipg lipase G, endothelial type gene DOID:3526 cerebral infarction susceptibility ISO RGD:1321819 D RGD:9068941 20200609 RGD DNA:polymorphism: :584C>T (human) PMID:17016617|REF_RGD_ID:1601237 8888967 Lipg lipase G, endothelial type gene DOID:5844 myocardial infarction susceptibility ISO RGD:1321819 D RGD:9068941 20200609 RGD DNA:polymorphism: :584C>T (human) PMID:17526978|REF_RGD_ID:1641818 8888967 Lipg lipase G, endothelial type gene DOID:630 genetic disease ISO RGD:1321819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888967 Lipg lipase G, endothelial type gene DOID:9006646 Metabolic Syndrome ISO RGD:1321819 D RGD:9068941 20200609 RGD PMID:16354105|REF_RGD_ID:1580865 8888967 Lipg lipase G, endothelial type gene DOID:9970 obesity ISO RGD:1321819 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16772345|REF_RGD_ID:1641819 8888986 Cdhr5 cadherin related family member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8888986 Cdhr5 cadherin related family member 5 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1605676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8888986 Cdhr5 cadherin related family member 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1605676 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8888986 Cdhr5 cadherin related family member 5 gene DOID:0111969 immunodeficiency 39 ISO RGD:1605676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8888986 Cdhr5 cadherin related family member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8888986 Cdhr5 cadherin related family member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8888986 Cdhr5 cadherin related family member 5 gene DOID:630 genetic disease ISO RGD:1605676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8888986 Cdhr5 cadherin related family member 5 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1605676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8889012 Slc16a7 solute carrier family 16 member 7 gene DOID:630 genetic disease ISO RGD:1346247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889012 Slc16a7 solute carrier family 16 member 7 gene DOID:9970 obesity ISO RGD:1346247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8889035 Peg10 paternally expressed 10 gene DOID:10591 pre-eclampsia ISO RGD:1349907 D RGD:9068941 20231102 RGD mRNA, protein:decreased expression:placenta (human) PMID:25526181|REF_RGD_ID:401851074 8889035 Peg10 paternally expressed 10 gene DOID:10591 pre-eclampsia ISO RGD:1349907 D RGD:9068941 20231102 RGD mRNA, protein:increased expression:placenta (human) PMID:22137777|REF_RGD_ID:401851073 8889035 Peg10 paternally expressed 10 gene DOID:10591 pre-eclampsia onset ISO RGD:1349907 D RGD:9068941 20231102 RGD mRNA, protein:decreased expression:placenta (human) PMID:37464405|REF_RGD_ID:401851069 8889035 Peg10 paternally expressed 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8889035 Peg10 paternally expressed 10 gene DOID:630 genetic disease ISO RGD:1349907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889035 Peg10 paternally expressed 10 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1621381 D RGD:9068941 20231102 RGD mRNA:increased expression:kidney (mouse) PMID:16778176|REF_RGD_ID:401851077 8889042 Lrrc34 leucine rich repeat containing 34 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1604227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 8889042 Lrrc34 leucine rich repeat containing 34 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604227 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis 8889042 Lrrc34 leucine rich repeat containing 34 gene DOID:1062 Fanconi syndrome ISO RGD:1604227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8889042 Lrrc34 leucine rich repeat containing 34 gene DOID:630 genetic disease ISO RGD:1604227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889058 Insl3 insulin like 3 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:736797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:28492532 8889058 Insl3 insulin like 3 gene DOID:11383 cryptorchidism ISO RGD:736797 D RGD:7240710 20180130 OMIM 8889058 Insl3 insulin like 3 gene DOID:11383 cryptorchidism ISO RGD:736797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism PMID:11095425|PMID:11746019|PMID:12601553|PMID:12970298|PMID:25741868 8889058 Insl3 insulin like 3 gene DOID:630 genetic disease ISO RGD:736797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11095425 8889058 Insl3 insulin like 3 gene DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative ISO RGD:736797 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:28492532 8889058 Insl3 insulin like 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:736797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8889065 Psd pleckstrin and Sec7 domain containing gene DOID:630 genetic disease ISO RGD:733797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:0050696 fetal alcohol spectrum disorder sexual_dimorphism ISO RGD:3094 D RGD:9068941 20240215 RGD associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat) PMID:29251811|REF_RGD_ID:401965484 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:0050741 alcohol dependence ISO RGD:3094 D RGD:9068941 20240201 RGD mRNA:altered expression:central amygdaloid nucleus (rat) PMID:28461696|REF_RGD_ID:401960064 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456|PMID:9662404 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:733363 D RGD:7240710 20180307 OMIM 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:733363 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant PMID:11134129|PMID:11344206|PMID:12483305|PMID:12679457|PMID:12788847|PMID:14715854|PMID:15126534|PMID:16611713|PMID:16757525|PMID:16954160|PMID:19571553|PMID:20030467|PMID:22463955|PMID:24033266|PMID:24088041|PMID:25251996|PMID:25741868|PMID:26467025|PMID:27780983|PMID:28348114|PMID:28492532|PMID:28804203|PMID:30763456|PMID:31690835|PMID:9662404 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:11612 polycystic ovary syndrome treatment ISO RGD:3094 D RGD:9068941 20240222 RGD PMID:31925474|REF_RGD_ID:401976287 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:12849 autistic disorder ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21321305 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:1574 alcohol use disorder ISO RGD:3094 D RGD:9068941 20240215 RGD PMID:33007359|REF_RGD_ID:401966865 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:1574 alcohol use disorder sexual_dimorphism ISO RGD:3094 D RGD:9068941 20240222 RGD PMID:30171933|REF_RGD_ID:401976281 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:1574 alcohol use disorder treatment ISO RGD:3094 D RGD:9068941 20240208 RGD PMID:29437012|REF_RGD_ID:401965466 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:2560 morphine dependence treatment ISO RGD:3094 D RGD:9068941 20240208 RGD PMID:22304485|REF_RGD_ID:401965468 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:2661 myoepithelioma ISO RGD:733363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:289 endometriosis ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:4479 pseudohypoaldosteronism ISO RGD:733363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:5844 myocardial infarction ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16413583|PMID:17587755 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:6000 congestive heart failure ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15722665|PMID:21321305 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:630 genetic disease ISO RGD:733363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001131 stress-related disorder ISO RGD:3094 D RGD:9068941 20240222 RGD associated with prenatal alcohol exposure; mRNA:increased expression:hippocampus (rat) PMID:23579081|REF_RGD_ID:401976414 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:3094 D RGD:9068941 20240215 RGD associated with prenatal exposure delayed effects; mRNA:altered expression: hippocampus (rat) PMID:29251811|REF_RGD_ID:401965484 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:3094 D RGD:9068941 20240222 RGD associated with caloric restriction, males; mRNA:increased expression:hippocampus (rat) PMID:23579081|REF_RGD_ID:401976414 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:3094 D RGD:9068941 20240222 RGD mRNA:altered expr:brain (rat) PMID:29990678|REF_RGD_ID:401976282 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:3094 D RGD:9068941 20240222 RGD protein:altered expression:hippocampus (rat) PMID:10399770|REF_RGD_ID:401976290 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:3094 D RGD:9068941 20240222 RGD associated with stress-related disorder; mRNA:decreased expression:hippocampus (rat) PMID:16925589|REF_RGD_ID:401976289 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:3094 D RGD:9068941 20240210 RGD mRNA:altered expression:hippocampus|hypothalamus (rat) PMID:26180184|REF_RGD_ID:11074449 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:3094 D RGD:9068941 20240215 RGD associated with chronic stress, female fetus; protein:increased expression:hippocampus, amygdala (rat) PMID:26342748|REF_RGD_ID:401965481 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:3094 D RGD:9068941 20240222 RGD associated with females; mRNA:decreased expression:hippocampus (rat) PMID:23579081|REF_RGD_ID:401976414 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:3094 D RGD:9068941 20240222 RGD mRNA:altered expr:brain (rat) PMID:29990678|REF_RGD_ID:401976282 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:733363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21321305 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9002298 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy ISO RGD:733363 D RGD:7240710 20180130 OMIM 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9002298 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy ISO RGD:733363 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy PMID:10884226|PMID:15126534|PMID:16757525|PMID:22463955|PMID:25741868|PMID:28492532 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:3094 D RGD:9068941 20240208 RGD associated with morphine dependence PMID:22304485|REF_RGD_ID:401965468 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9005111 morphine withdrawal syndrome treatment ISO RGD:3094 D RGD:9068941 20240208 RGD PMID:25308750|REF_RGD_ID:401965469 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9452 steatotic liver disease treatment ISO RGD:3094 D RGD:9068941 20240201 RGD PMID:30298849|REF_RGD_ID:401960083 8889098 Nr3c2 nuclear receptor subfamily 3 group C member 2 gene DOID:9970 obesity treatment ISO RGD:3094 D RGD:9068941 20240201 RGD PMID:30298849|REF_RGD_ID:401960083 8889098 Nr3c2 nuclear receptor subfamily 3, group C, member 2 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:3094 D RGD:9068941 20240208 RGD PMID:33390808|REF_RGD_ID:401965467 8889115 LOC102018114 T-cell receptor-associated transmembrane adapter 1 gene DOID:11372 megacolon ISO RGD:1350612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8889115 LOC102018114 T-cell receptor-associated transmembrane adapter 1 gene DOID:630 genetic disease ISO RGD:1350612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889132 Tspan6 tetraspanin 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8889132 Tspan6 tetraspanin 6 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1347181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 8889132 Tspan6 tetraspanin 6 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1347181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8889132 Tspan6 tetraspanin 6 gene DOID:12849 autistic disorder ISO RGD:1347181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8889132 Tspan6 tetraspanin 6 gene DOID:630 genetic disease ISO RGD:1347181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889158 Gxylt1 glucoside xylosyltransferase 1 gene DOID:13938 amenorrhea ISO RGD:1606923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8889158 Gxylt1 glucoside xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889169 Spidr scaffold protein involved in DNA repair gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1603315 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8889169 Spidr scaffold protein involved in DNA repair gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8889169 Spidr scaffold protein involved in DNA repair gene DOID:630 genetic disease ISO RGD:1603315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889169 Spidr scaffold protein involved in DNA repair gene DOID:9000760 Ovarian Dysgenesis 9 ISO RGD:1603315 D RGD:7240710 20211222 OMIM 8889169 Spidr scaffold protein involved in DNA repair gene DOID:9000760 Ovarian Dysgenesis 9 ISO RGD:1603315 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 9 PMID:25741868|PMID:27967308|PMID:34697795 8889200 Desi1 desumoylating isopeptidase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1607044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8889200 Desi1 desumoylating isopeptidase 1 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1607044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8889200 Desi1 desumoylating isopeptidase 1 gene DOID:630 genetic disease ISO RGD:1607044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889235 Lrrc72 leucine rich repeat containing 72 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:5508492 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 PMID:23288328|PMID:28492532 8889235 Lrrc72 leucine rich repeat containing 72 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:5508492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8889235 Lrrc72 leucine rich repeat containing 72 gene DOID:630 genetic disease ISO RGD:5508492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889248 Pggt1b protein geranylgeranyltransferase type I subunit beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734288 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8889248 Pggt1b protein geranylgeranyltransferase type I subunit beta gene DOID:12849 autistic disorder ISO RGD:734288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8889248 Pggt1b protein geranylgeranyltransferase type I subunit beta gene DOID:630 genetic disease ISO RGD:734288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889248 Pggt1b protein geranylgeranyltransferase type I subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8889248 Pggt1b protein geranylgeranyltransferase type I subunit beta gene DOID:9005172 Lung Neoplasms ISO RGD:734288 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22028818 8889248 Pggt1b protein geranylgeranyltransferase type I subunit beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734288 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8889264 Cpsf3 cleavage and polyadenylation specific factor 3 gene DOID:630 genetic disease ISO RGD:1313998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889264 Cpsf3 cleavage and polyadenylation specific factor 3 gene DOID:9008601 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures ISO RGD:1313998 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures PMID:35121750 8889286 Fbxw11 F-box and WD repeat domain containing 11 gene DOID:630 genetic disease ISO RGD:1319284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889286 Fbxw11 F-box and WD repeat domain containing 11 gene DOID:9003225 NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME ISO RGD:1319284 D RGD:7240710 20201111 OMIM 8889286 Fbxw11 F-box and WD repeat domain containing 11 gene DOID:9003225 NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME ISO RGD:1319284 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome PMID:25741868|PMID:28492532|PMID:31402090 8889311 Ccn1 cellular communication network factor 1 gene DOID:0050651 atrioventricular septal defect ISO RGD:731721 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 8889311 Ccn1 cellular communication network factor 1 gene DOID:0050651 atrioventricular septal defect ISO RGD:731721 D RGD:9068941 20230525 RGD PMID:17023674|REF_RGD_ID:329845526 8889311 Ccn1 cellular communication network factor 1 gene DOID:0050700 cardiomyopathy ameliorates ISO RGD:731721 D RGD:9068941 20230601 RGD PMID:27167338|REF_RGD_ID:329845560 8889311 Ccn1 cellular communication network factor 1 gene DOID:0050830 peripheral artery disease severity ISO RGD:731720 D RGD:9068941 20230527 RGD associated with type 2 diabetes mellitus; protein:increased expression:blood serum (human) PMID:33222686|REF_RGD_ID:329845552 8889311 Ccn1 cellular communication network factor 1 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:731721 D RGD:9068941 20220825 MouseDO OMIM:108800 8889311 Ccn1 cellular communication network factor 1 gene DOID:10941 intracranial aneurysm disease_progression ISO RGD:620763 D RGD:9068941 20230525 RGD protein:increased expression:common carotid artery plus branches (Rat) PMID:33885814|REF_RGD_ID:329812012 8889311 Ccn1 cellular communication network factor 1 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:731720 D RGD:9068941 20230601 RGD protein:increased expression:vitreous body (human) PMID:22160564|REF_RGD_ID:329845551 8889311 Ccn1 cellular communication network factor 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:731721 D RGD:9068941 20230601 RGD ApoE knockout mouse PMID:30917686|REF_RGD_ID:329845559 8889311 Ccn1 cellular communication network factor 1 gene DOID:2725 capillary hemangioma disease_progression ISO RGD:731720 D RGD:9068941 20230525 RGD mRNA:increased expression:skin (human) PMID:33587560|REF_RGD_ID:329845523 8889311 Ccn1 cellular communication network factor 1 gene DOID:3070 high grade glioma exacerbates ISO RGD:731720 D RGD:9068941 20230527 RGD human cells in mouse model PMID:15026334|REF_RGD_ID:329845555 8889311 Ccn1 cellular communication network factor 1 gene DOID:418 systemic scleroderma ISO RGD:731720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 8889311 Ccn1 cellular communication network factor 1 gene DOID:5844 myocardial infarction ISO RGD:731721 D RGD:9068941 20230601 RGD mRNA,protein:increased expression:myocardium (mouse) PMID:15117851|REF_RGD_ID:329845570 8889311 Ccn1 cellular communication network factor 1 gene DOID:6000 congestive heart failure severity ISO RGD:731720 D RGD:9068941 20230525 RGD protein:increased expression:blood serum (human) PMID:30045012|REF_RGD_ID:329845515 8889311 Ccn1 cellular communication network factor 1 gene DOID:630 genetic disease ISO RGD:731720 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889311 Ccn1 cellular communication network factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17699798 8889311 Ccn1 cellular communication network factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:731720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8889311 Ccn1 cellular communication network factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:731720 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:34031328|REF_RGD_ID:329845561 8889311 Ccn1 cellular communication network factor 1 gene DOID:9000740 ST Elevation Myocardial Infarction sexual_dimorphism ISO RGD:731720 D RGD:9068941 20230525 RGD protein:increased expression:blood serum (human) PMID:34597881|REF_RGD_ID:329845519 8889311 Ccn1 cellular communication network factor 1 gene DOID:9001686 Acute Coronary Syndrome susceptibility ISO RGD:731720 D RGD:9068941 20230601 RGD DNA:SNP,haplotypes:5'utr: (rs6576776) (human) PMID:33906697|REF_RGD_ID:329845569 8889311 Ccn1 cellular communication network factor 1 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:731721 D RGD:9068941 20230525 RGD PMID:34144219|REF_RGD_ID:329812011 8889311 Ccn1 cellular communication network factor 1 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:620763 D RGD:9068941 20210924 RGD PMID:27653023|REF_RGD_ID:150429754 8889311 Ccn1 cellular communication network factor 1 gene DOID:9002909 Oxygen-Induced Retinopathy ameliorates ISO RGD:731721 D RGD:9068941 20230525 RGD PMID:35445044|REF_RGD_ID:329812014 8889311 Ccn1 cellular communication network factor 1 gene DOID:9003511 ischemic cardiomyopathy ISO RGD:731720 D RGD:9068941 20230601 RGD mRNA,protein:increased expression:left ventricle myocardium (human) PMID:15117851|REF_RGD_ID:329845570 8889311 Ccn1 cellular communication network factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:731720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8889311 Ccn1 cellular communication network factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731721 D RGD:9068941 20230601 RGD mRNA:increased expression:retina (mouse) PMID:22160564|REF_RGD_ID:329845551 8889311 Ccn1 cellular communication network factor 1 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:731721 D RGD:9068941 20230601 RGD PMID:24920753|REF_RGD_ID:329845564 8889311 Ccn1 cellular communication network factor 1 gene DOID:9006778 Carotid Atherosclerosis ISO RGD:731720 D RGD:9068941 20230601 RGD protein:increased expression:carotid artery segment (human) PMID:16774841|REF_RGD_ID:329845567 8889311 Ccn1 cellular communication network factor 1 gene DOID:9009106 Acute Heart Injury ameliorates ISO RGD:731721 D RGD:9068941 20230601 RGD PMID:23329650|REF_RGD_ID:329845572 8889311 Ccn1 cellular communication network factor 1 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:731721 D RGD:9068941 20230525 RGD PMID:30371213|REF_RGD_ID:329845516 8889311 Ccn1 cellular communication network factor 1 gene DOID:9538 multiple myeloma exacerbates ISO RGD:731720 D RGD:9068941 20230525 RGD mRNA, protein:increased expression:bone marrow (human) PMID:28035364|REF_RGD_ID:329845528 8889311 Ccn1 cellular communication network factor 1 gene DOID:9538 multiple myeloma exacerbates ISO RGD:731720 D RGD:9068941 20230525 RGD mRNA,protein:increased expression:bone marrow (human) PMID:25061178|REF_RGD_ID:329845546 8889321 Atg2a autophagy related 2A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8889321 Atg2a autophagy related 2A gene DOID:1059 intellectual disability ISO RGD:1604391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8889321 Atg2a autophagy related 2A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8889321 Atg2a autophagy related 2A gene DOID:2746 glycogen storage disease V ISO RGD:1604391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8889321 Atg2a autophagy related 2A gene DOID:3070 high grade glioma ISO RGD:1604391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8889321 Atg2a autophagy related 2A gene DOID:5426 primary ovarian insufficiency ISO RGD:1604391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8889321 Atg2a autophagy related 2A gene DOID:630 genetic disease ISO RGD:1604391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889380 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:0050439 Usher syndrome ISO RGD:1322145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 8889380 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1322145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8889380 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:0070398 hypomyelinating leukodystrophy 15 ISO RGD:1322145 D RGD:7240710 20190315 OMIM 8889380 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:0070398 hypomyelinating leukodystrophy 15 ISO RGD:1322145 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 15 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29576217|PMID:9536098 8889380 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1322145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability 8889380 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1322145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8889380 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1322145 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8889380 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1322145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 8889380 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1322145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8889380 Eprs1 glutamyl-prolyl-tRNA synthetase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8889416 Rbp2 retinol binding protein 2 gene DOID:630 genetic disease ISO RGD:734415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889435 Psmd13 proteasome 26S subunit, non-ATPase 13 gene DOID:0111969 immunodeficiency 39 ISO RGD:1313146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8889435 Psmd13 proteasome 26S subunit, non-ATPase 13 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8889435 Psmd13 proteasome 26S subunit, non-ATPase 13 gene DOID:630 genetic disease ISO RGD:1313146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889500 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:1826 epilepsy ISO RGD:1343920 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8889500 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:1343920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8889500 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:4450 renal cell carcinoma ISO RGD:1343920 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 8889500 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:630 genetic disease ISO RGD:1343920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8889500 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1343920 D RGD:7240710 20180130 OMIM 8889500 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1343920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:15138885|PMID:16199547|PMID:17576681|PMID:18164639|PMID:19924563|PMID:21914562|PMID:25356417|PMID:25741868|PMID:26014431|PMID:26865159|PMID:28492532|PMID:9536098 8889500 Pdhb pyruvate dehydrogenase E1 subunit beta gene DOID:9005740 Pyruvate Dehydrogenase Phosphatase Deficiency ISO RGD:1343920 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency PMID:25741868|PMID:28492532 8889519 Prss33 serine protease 33 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1323608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8889519 Prss33 serine protease 33 gene DOID:1826 epilepsy ISO RGD:1323608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8889519 Prss33 serine protease 33 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1323608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8889519 Prss33 serine protease 33 gene DOID:630 genetic disease ISO RGD:1323608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889531 Ift80 intraflagellar transport 80 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome PMID:16199547|PMID:16385454|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:9536098 8889531 Ift80 intraflagellar transport 80 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606252 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:11727201|PMID:12673792|PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20301601|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098 8889531 Ift80 intraflagellar transport 80 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606252 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098 8889531 Ift80 intraflagellar transport 80 gene DOID:0060118 thoracic disease ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 8889531 Ift80 intraflagellar transport 80 gene DOID:0080006 bone development disease ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 8889531 Ift80 intraflagellar transport 80 gene DOID:0110086 asphyxiating thoracic dystrophy 2 ISO RGD:1606252 D RGD:7240710 20180130 OMIM 8889531 Ift80 intraflagellar transport 80 gene DOID:0110086 asphyxiating thoracic dystrophy 2 ISO RGD:1606252 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:20301500|PMID:21227999|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:30266093|PMID:30767363|PMID:9536098 8889531 Ift80 intraflagellar transport 80 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1550300 D RGD:9068941 20220825 MouseDO OMIM:613091 8889531 Ift80 intraflagellar transport 80 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:1606252 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:25741868|PMID:28492532 8889531 Ift80 intraflagellar transport 80 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1606252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:19648123|PMID:28492532|PMID:29068549|PMID:30266093 8889531 Ift80 intraflagellar transport 80 gene DOID:11162 respiratory failure ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 8889531 Ift80 intraflagellar transport 80 gene DOID:1148 polydactyly ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 8889531 Ift80 intraflagellar transport 80 gene DOID:2975 cystic kidney disease ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 8889531 Ift80 intraflagellar transport 80 gene DOID:630 genetic disease ISO RGD:1606252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8889531 Ift80 intraflagellar transport 80 gene DOID:65 connective tissue disease ISO RGD:1606252 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8889531 Ift80 intraflagellar transport 80 gene DOID:8466 retinal degeneration ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 8889531 Ift80 intraflagellar transport 80 gene DOID:9001041 Asphyxia ISO RGD:1606252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468754 8889531 Ift80 intraflagellar transport 80 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1606252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:28492532|PMID:29068549 8889560 Rc3h2 ring finger and CCCH-type domains 2 gene DOID:630 genetic disease ISO RGD:1312502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889589 Akap12 A-kinase anchoring protein 12 gene DOID:0050458 juvenile myelomonocytic leukemia disease_progression ISO RGD:737243 D RGD:9068941 20200609 RGD PMID:26891149|REF_RGD_ID:14348967 8889589 Akap12 A-kinase anchoring protein 12 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:737243 D RGD:9068941 20200609 RGD PMID:21918680|REF_RGD_ID:14348959 8889589 Akap12 A-kinase anchoring protein 12 gene DOID:0080600 COVID-19 ISO RGD:737243 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8889589 Akap12 A-kinase anchoring protein 12 gene DOID:11446 sciatic neuropathy ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:19937403|REF_RGD_ID:14348968 8889589 Akap12 A-kinase anchoring protein 12 gene DOID:2316 brain ischemia ISO RGD:70988 D RGD:9068941 20200609 RGD PMID:21334414|REF_RGD_ID:14348963 8889589 Akap12 A-kinase anchoring protein 12 gene DOID:3347 osteosarcoma ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:osteoblast: PMID:19825367|REF_RGD_ID:5147850 8889589 Akap12 A-kinase anchoring protein 12 gene DOID:5082 liver cirrhosis ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:23925424|REF_RGD_ID:14348971 8889589 Akap12 A-kinase anchoring protein 12 gene DOID:630 genetic disease ISO RGD:737243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889589 Akap12 A-kinase anchoring protein 12 gene DOID:784 chronic kidney disease susceptibility ISO RGD:737243 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs756009(human) PMID:19724895|REF_RGD_ID:14349027 8889589 Akap12 A-kinase anchoring protein 12 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord PMID:20155814|REF_RGD_ID:14348972 8889589 Akap12 A-kinase anchoring protein 12 gene DOID:9004610 Acute Lung Injury ISO RGD:70988 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:23912647|REF_RGD_ID:14348970 8889589 Akap12 A-kinase anchoring protein 12 gene DOID:9008939 Breast Neoplasms ISO RGD:737243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8889595 Aldh8a1 aldehyde dehydrogenase 8 family member A1 gene DOID:13580 cholestasis ISO RGD:1319646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8889595 Aldh8a1 aldehyde dehydrogenase 8 family member A1 gene DOID:630 genetic disease ISO RGD:1319646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889595 Aldh8a1 aldehyde dehydrogenase 8 family member A1 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1319646 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8889608 Rxrg retinoid X receptor gamma gene DOID:1540 parathyroid carcinoma ISO RGD:733408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8889608 Rxrg retinoid X receptor gamma gene DOID:3908 lung non-small cell carcinoma ISO RGD:733408 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:20113835|REF_RGD_ID:13503326 8889608 Rxrg retinoid X receptor gamma gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:733408 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 8889608 Rxrg retinoid X receptor gamma gene DOID:630 genetic disease ISO RGD:733408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889608 Rxrg retinoid X receptor gamma gene DOID:9007102 Myocardial Ischemia ISO RGD:733408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8889608 Rxrg retinoid X receptor gamma gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8889623 Cpeb3 cytoplasmic polyadenylation element binding protein 3 gene DOID:630 genetic disease ISO RGD:1348549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889623 Cpeb3 cytoplasmic polyadenylation element binding protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1348549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8889639 B3galt1 beta-1,3-galactosyltransferase 1 gene DOID:10283 prostate cancer ISO RGD:1323596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8889639 B3galt1 beta-1,3-galactosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889659 Spink6 serine peptidase inhibitor Kazal type 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351307 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8889659 Spink6 serine peptidase inhibitor Kazal type 6 gene DOID:630 genetic disease ISO RGD:1351307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889659 Spink6 serine peptidase inhibitor Kazal type 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8889659 Spink6 serine peptidase inhibitor Kazal type 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351307 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8889668 Cldn6 claudin 6 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8889668 Cldn6 claudin 6 gene DOID:1826 epilepsy ISO RGD:1318839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8889668 Cldn6 claudin 6 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318839 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8889668 Cldn6 claudin 6 gene DOID:630 genetic disease ISO RGD:1318839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889673 Lrrc1 leucine rich repeat containing 1 gene DOID:630 genetic disease ISO RGD:1318108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889673 Lrrc1 leucine rich repeat containing 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1318108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8889751 Fitm1 fat storage inducing transmembrane protein 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1603355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8889751 Fitm1 fat storage inducing transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1603355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889751 Fitm1 fat storage inducing transmembrane protein 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1603355 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8889751 Fitm1 fat storage inducing transmembrane protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1603355 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8889757 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:0112372 Coffin-Siris syndrome 11 ISO RGD:1313419 D RGD:7240710 20200226 OMIM 8889757 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:0112372 Coffin-Siris syndrome 11 ISO RGD:1313419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 11 PMID:25741868|PMID:30879640 8889757 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1305406 D RGD:9068941 20200609 RGD mRNA:decreased expression:thoracic aorta PMID:24615205|REF_RGD_ID:9586357 8889757 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:630 genetic disease ISO RGD:1313419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8889757 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313419 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8889757 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1313419 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8889757 Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 gene DOID:987 alopecia ISO RGD:1313419 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alopecia, androgenetic, 1 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050944 spastic ataxia 5 ISO RGD:1313183 D RGD:7240710 20180130 OMIM 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050944 spastic ataxia 5 ISO RGD:1313183 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic ataxia 5 PMID:22022284|PMID:25401298|PMID:25741868|PMID:26454370|PMID:26467025|PMID:27165006|PMID:28492532|PMID:30773800|PMID:31111429|PMID:32219868|PMID:34333379 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050952 spastic ataxia ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050952 spastic ataxia onset ISO RGD:1313183 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) PMID:22022284|REF_RGD_ID:11532672 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:7240710 20180130 OMIM 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0050977 spinocerebellar ataxia type 28 ISO RGD:1313183 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 28 PMID:16251216|PMID:20208537|PMID:20354562|PMID:20725928|PMID:23777634|PMID:25401298|PMID:25741868|PMID:25741869|PMID:26454370|PMID:26467025|PMID:26633542|PMID:27165006|PMID:28444220|PMID:28492532|PMID:29053796|PMID:30773800|PMID:31111429|PMID:31327635|PMID:33956305|PMID:34333379 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0080840 optic atrophy 12 ISO RGD:1313183 D RGD:7240710 20200902 OMIM 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:0080840 optic atrophy 12 ISO RGD:1313183 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy 12 PMID:25741868|PMID:26467025|PMID:26539208|PMID:26633542|PMID:28492532|PMID:29181157|PMID:32219868|PMID:32600459 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:32219868 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:1059 intellectual disability ISO RGD:1313183 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:26467025|PMID:28492532 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:543 dystonia ISO RGD:1313183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:26467025|PMID:28492532|PMID:32219868 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:5723 optic atrophy ISO RGD:1313183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:26539208|PMID:29181157|PMID:32219868 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:630 genetic disease ISO RGD:1313183 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30773800|PMID:31111429|PMID:34333379|PMID:9536098 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1313183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 8889785 Afg3l2 AFG3 like matrix AAA peptidase subunit 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1313183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208537 8889813 Nhlrc2 NHL repeat containing 2 gene DOID:630 genetic disease ISO RGD:1316494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8889813 Nhlrc2 NHL repeat containing 2 gene DOID:9008399 FINCA Syndrome ISO RGD:1316494 D RGD:7240710 20190315 OMIM 8889813 Nhlrc2 NHL repeat containing 2 gene DOID:9008399 FINCA Syndrome ISO RGD:1316494 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Fibrosis, neurodegeneration, and cerebral angiomatosis PMID:25741868|PMID:29423877|PMID:30138417|PMID:30239752|PMID:32435055|PMID:34165204|PMID:37188825 8889844 Slc26a7 solute carrier family 26 member 7 gene DOID:0050328 congenital hypothyroidism ISO RGD:1321983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:31372509 8889844 Slc26a7 solute carrier family 26 member 7 gene DOID:5419 schizophrenia ISO RGD:1321983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8889844 Slc26a7 solute carrier family 26 member 7 gene DOID:630 genetic disease ISO RGD:1321983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889844 Slc26a7 solute carrier family 26 member 7 gene DOID:9004912 Hyperoxaluria ISO RGD:1321983 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hyperoxaluria PMID:25741868 8889880 Rcbtb2 RCC1 and BTB domain containing protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1351172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8889880 Rcbtb2 RCC1 and BTB domain containing protein 2 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1351172 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 8889880 Rcbtb2 RCC1 and BTB domain containing protein 2 gene DOID:1059 intellectual disability ISO RGD:1351172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8889880 Rcbtb2 RCC1 and BTB domain containing protein 2 gene DOID:2570 malignant histiocytic disease ISO RGD:1557599 D RGD:9068941 20220825 MouseDO 8889880 Rcbtb2 RCC1 and BTB domain containing protein 2 gene DOID:630 genetic disease ISO RGD:1351172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889919 Camk4 calcium/calmodulin dependent protein kinase IV gene DOID:0060001 withdrawal disorder ISO RGD:2264 D RGD:9068941 20240125 RGD associated with alcohol use disorder;protein:decreased expression:brain PMID:11181917|REF_RGD_ID:401959326 8889919 Camk4 calcium/calmodulin dependent protein kinase IV gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8889919 Camk4 calcium/calmodulin dependent protein kinase IV gene DOID:1059 intellectual disability ISO RGD:731356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30262571 8889919 Camk4 calcium/calmodulin dependent protein kinase IV gene DOID:12336 male infertility ISO RGD:735406 D RGD:9068941 20200609 RGD PMID:10932193|REF_RGD_ID:734683 8889919 Camk4 calcium/calmodulin dependent protein kinase IV gene DOID:1574 alcohol use disorder ISO RGD:2264 D RGD:9068941 20240125 RGD protein:decreased expression:brain, cingulate gyrus PMID:11181917|REF_RGD_ID:401959326 8889919 Camk4 calcium/calmodulin dependent protein kinase IV gene DOID:630 genetic disease ISO RGD:731356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889919 Camk4 calcium/calmodulin dependent protein kinase IV gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8889919 Camk4 calcium/calmodulin dependent protein kinase IV gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19001277 8889919 Camk4 calcium/calmodulin dependent protein kinase IV gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8889919 Camk4 calcium/calmodulin dependent protein kinase IV gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8889919 Camk4 calcium/calmodulin dependent protein kinase IV gene DOID:9975 cocaine dependence ISO RGD:731356 D RGD:9068941 20231216 RGD DNA:SNP: :rs919334 PMID:19001277|REF_RGD_ID:401938643 8889919 Camk4 calcium/calmodulin dependent protein kinase IV gene DOID:9975 cocaine dependence no_association ISO RGD:731356 D RGD:9068941 20231216 RGD DNA:SNPs: :rs1457115, rs9285875 PMID:19001277|REF_RGD_ID:401938643 8889940 Fkbp2 FKBP prolyl isomerase 2 gene DOID:630 genetic disease ISO RGD:1349147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889964 STK33 serine/threonine kinase 33 gene DOID:9256 colorectal cancer ISO RGD:1315072 D RGD:9068941 20240321 RGD PMID:30760631|REF_RGD_ID:405096660 8889964 Stk33 serine/threonine kinase 33 gene DOID:1596 depressive disorder ISO RGD:1315072 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8889964 Stk33 serine/threonine kinase 33 gene DOID:630 genetic disease ISO RGD:1315072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8889964 Stk33 serine/threonine kinase 33 gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1315072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:20581473 8889988 Krtdap keratinocyte differentiation associated protein gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603836 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8889988 Krtdap keratinocyte differentiation associated protein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8889988 Krtdap keratinocyte differentiation associated protein gene DOID:543 dystonia ISO RGD:1603836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8889988 Krtdap keratinocyte differentiation associated protein gene DOID:630 genetic disease ISO RGD:1603836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890021 Cdc73 cell division cycle 73 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1323393 D RGD:9068941 20211224 RGD mRNA:altered expression: tongue, oral cavity (human) PMID:24257751|REF_RGD_ID:150537040 8890021 Cdc73 cell division cycle 73 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:1323393 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:25741868 8890021 Cdc73 cell division cycle 73 gene DOID:10534 stomach cancer ameliorates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:mucosa of stomach (human) PMID:29221126|REF_RGD_ID:150539444 8890021 Cdc73 cell division cycle 73 gene DOID:1324 lung cancer exacerbates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:lung (human) PMID:29221126|REF_RGD_ID:150539444 8890021 Cdc73 cell division cycle 73 gene DOID:13543 hyperparathyroidism ISO RGD:1323393 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:20301744|PMID:25741868 8890021 Cdc73 cell division cycle 73 gene DOID:1540 parathyroid carcinoma ISO RGD:1323393 D RGD:7240710 20190315 OMIM 8890021 Cdc73 cell division cycle 73 gene DOID:1540 parathyroid carcinoma ISO RGD:1323393 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:12434154|PMID:12960210|PMID:14585940|PMID:14715834|PMID:14985403|PMID:15070940|PMID:15531515|PMID:15580289|PMID:15613436|PMID:15632063|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17314275|PMID:17468190|PMID:17576681|PMID:18755853|PMID:19017757|PMID:19332451|PMID:20052758|PMID:20301744|PMID:20304979|PMID:20979880|PMID:21360064|PMID:21652691|PMID:21732217|PMID:22187299|PMID:22703879|PMID:22987117|PMID:23029104|PMID:2329331|PMID:23293331|PMID:23757631|PMID:24121387|PMID:24340015|PMID:24716902|PMID:24728327|PMID:24823466|PMID:25388829|PMID:25444225|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25959515|PMID:26121439|PMID:26580448|PMID:26650250|PMID:27679651|PMID:28394026|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29142233|PMID:29225260|PMID:29324469|PMID:29641532|PMID:29755684|PMID:30262796|PMID:30885698|PMID:32590342|PMID:33150274|PMID:33332384|PMID:9536098 8890021 Cdc73 cell division cycle 73 gene DOID:1540 parathyroid carcinoma disease_progression ISO RGD:1323393 D RGD:9068941 20211231 RGD protein:decreased expression:parathyroid gland (human) PMID:27490759|REF_RGD_ID:150539446 8890021 Cdc73 cell division cycle 73 gene DOID:1612 breast cancer exacerbates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:breast (human) PMID:29221126|REF_RGD_ID:150539444 8890021 Cdc73 cell division cycle 73 gene DOID:180 ossifying fibroma ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ossifying fibroma of the jaw PMID:27658992 8890021 Cdc73 cell division cycle 73 gene DOID:2394 ovarian cancer ISO RGD:1323393 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22703879|PMID:25741868|PMID:28492532|PMID:30262796 8890021 Cdc73 cell division cycle 73 gene DOID:2394 ovarian cancer severity ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:ovary (human) PMID:29221126|REF_RGD_ID:150539444 8890021 Cdc73 cell division cycle 73 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:1323393 D RGD:9068941 20211231 RGD protein:decreased expression:larynx (human) PMID:27334641|REF_RGD_ID:150539447 8890021 Cdc73 cell division cycle 73 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1323393 D RGD:9068941 20211231 RGD protein:decreased expression:stomach (human) PMID:18080135|REF_RGD_ID:150539445 8890021 Cdc73 cell division cycle 73 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1323393 D RGD:9068941 20211224 RGD mRNA:decreased expression:lung (human) PMID:21692036|REF_RGD_ID:150537041 8890021 Cdc73 cell division cycle 73 gene DOID:5520 head and neck squamous cell carcinoma exacerbates ISO RGD:1323393 D RGD:9068941 20211224 RGD protein:increased expression:squamous epithelium (human) PMID:26124004|REF_RGD_ID:11065919 8890021 Cdc73 cell division cycle 73 gene DOID:630 genetic disease ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12434154 8890021 Cdc73 cell division cycle 73 gene DOID:7608 parathyroid adenoma ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma, somatic PMID:12434154|PMID:15531515|PMID:16061557|PMID:16199547|PMID:25741868|PMID:28492532 8890021 Cdc73 cell division cycle 73 gene DOID:9002327 Hyperparathyroidism 2 ISO RGD:1323393 D RGD:7240710 20190315 OMIM 8890021 Cdc73 cell division cycle 73 gene DOID:9002327 Hyperparathyroidism 2 ISO RGD:1323393 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors PMID:12434154|PMID:12960210|PMID:14585940|PMID:14715834|PMID:15070940|PMID:15613436|PMID:17065424|PMID:20052758|PMID:20301744|PMID:21652691|PMID:25637381|PMID:25741868|PMID:28492532|PMID:29641532 8890021 Cdc73 cell division cycle 73 gene DOID:9004331 Parathyroid Neoplasms ISO RGD:1323393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8890021 Cdc73 cell division cycle 73 gene DOID:9006156 Familial Cystic Parathyroid Adenomatosis ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic parathyroid adenoma PMID:12434154 8890021 Cdc73 cell division cycle 73 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1323393 D RGD:7240710 20190315 OMIM 8890021 Cdc73 cell division cycle 73 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1323393 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:12434154|PMID:12960210|PMID:14585940|PMID:14715834|PMID:14985403|PMID:15531515|PMID:15580289|PMID:15632063|PMID:16061557|PMID:16199547|PMID:16487440|PMID:17065424|PMID:17576681|PMID:19017757|PMID:20052758|PMID:20301744|PMID:20979880|PMID:21681106|PMID:22187299|PMID:22703879|PMID:23029104|PMID:23293331|PMID:24716902|PMID:25444225|PMID:25637381|PMID:25741868|PMID:25959515|PMID:26580448|PMID:28492532|PMID:28774260|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29641532|PMID:30262796|PMID:32590342|PMID:9536098 8890021 Cdc73 cell division cycle 73 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12960210|PMID:14985403|PMID:17065424|PMID:19332451|PMID:20052758|PMID:25741868|PMID:28166811|PMID:28492532 8890021 Cdc73 cell division cycle 73 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323393 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12434154|PMID:12960210|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17468190|PMID:17576681|PMID:19332451|PMID:20052758|PMID:20979880|PMID:22703879|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23709761|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:26580448|PMID:27679651|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:30262796|PMID:32590342|PMID:33332384|PMID:9536098 8890021 Cdc73 cell division cycle 73 gene DOID:9007696 Parathyroid Cancer ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid cancer PMID:25741868|PMID:28492532 8890021 Cdc73 cell division cycle 73 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1323393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12434154|PMID:22187299|PMID:23293331|PMID:25741868|PMID:25959515|PMID:28492532 8890021 Cdc73 cell division cycle 73 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8890021 Cdc73 cell division cycle 73 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1323393 D RGD:9068941 20211231 RGD mRNA:increased expression:colorectum (human) PMID:21315421|REF_RGD_ID:150539448 8890055 Nefm neurofilament medium chain gene DOID:0050328 congenital hypothyroidism ISO RGD:3160 D RGD:9068941 20200609 RGD protein:decreased expression, increased phosphorylation PMID:18845185|REF_RGD_ID:9693732 8890055 Nefm neurofilament medium chain gene DOID:10652 Alzheimer's disease ISO RGD:735476 D RGD:9068941 20200609 RGD protein:decreased glycosylation:cerebral cortex PMID:17687114|REF_RGD_ID:9743945 8890055 Nefm neurofilament medium chain gene DOID:11446 sciatic neuropathy ISO RGD:3160 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:12638730|REF_RGD_ID:9743948 8890055 Nefm neurofilament medium chain gene DOID:11446 sciatic neuropathy ISO RGD:3160 D RGD:9068941 20201211 RGD PMID:3135913|REF_RGD_ID:9693730 8890055 Nefm neurofilament medium chain gene DOID:11446 sciatic neuropathy treatment ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:12445968|REF_RGD_ID:9743941 8890055 Nefm neurofilament medium chain gene DOID:1459 hypothyroidism treatment ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:10439464|REF_RGD_ID:9743942 8890055 Nefm neurofilament medium chain gene DOID:224 transient cerebral ischemia ISO RGD:3160 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:8726968|REF_RGD_ID:9743938 8890055 Nefm neurofilament medium chain gene DOID:289 endometriosis ISO RGD:735476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8890055 Nefm neurofilament medium chain gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:16006557|REF_RGD_ID:9698444 8890055 Nefm neurofilament medium chain gene DOID:3525 middle cerebral artery infarction ISO RGD:10970 D RGD:9068941 20201211 RGD protein:altered expression:brain PMID:29967576|REF_RGD_ID:27226878 8890055 Nefm neurofilament medium chain gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735476 D RGD:9068941 20201211 RGD protein:increased serine/threonine phosphorylation:brain PMID:26033855|REF_RGD_ID:40886309 8890055 Nefm neurofilament medium chain gene DOID:630 genetic disease ISO RGD:735476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890055 Nefm neurofilament medium chain gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:18772508|REF_RGD_ID:9698443 8890055 Nefm neurofilament medium chain gene DOID:9002498 Wallerian Degeneration ISO RGD:3160 D RGD:9068941 20200609 RGD protein:decreased expression:neuron PMID:10646539|REF_RGD_ID:9698439 8890055 Nefm neurofilament medium chain gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:12941778|REF_RGD_ID:9698428 8890055 Nefm neurofilament medium chain gene DOID:9005695 Malnutrition ISO RGD:3160 D RGD:9068941 20201211 RGD protein:increased expression:cerebral cortex PMID:1908892|REF_RGD_ID:40902817 8890055 Nefm neurofilament medium chain gene DOID:9008091 Optic Nerve Injuries ISO RGD:3160 D RGD:9068941 20200609 RGD PMID:8501527|REF_RGD_ID:9743936 8890062 Ndufa4l2 NDUFA4 mitochondrial complex associated like 2 gene DOID:630 genetic disease ISO RGD:1601990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890062 Ndufa4l2 NDUFA4 mitochondrial complex associated like 2 gene DOID:6846 familial melanoma ISO RGD:1601990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8890062 Ndufa4l2 NDUFA4 mitochondrial complex associated like 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1601990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:11212236|PMID:12202987|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:19996017|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772377|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29543232|PMID:30158670|PMID:32560555|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:11212236|PMID:12202987|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772377|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29543232|PMID:30158670|PMID:30739908|PMID:32152251|PMID:32560555|PMID:32887874|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:734332 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A PMID:11212236|PMID:12202987|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772377|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:26948038|PMID:27100340|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28991257|PMID:29168297|PMID:29543232|PMID:29907982|PMID:30158670|PMID:30739908|PMID:32152251|PMID:32560555|PMID:32887874|PMID:8246946|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0060320 inguinal hernia ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:734332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 2 PMID:25326637|PMID:25741868 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:734332 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glutaric acidemia type 2 PMID:25326637|PMID:25741868|PMID:28492532 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:7240710 20180130 OMIM 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20358619|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30158670|PMID:30341550|PMID:34008892|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20358619|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:27100340|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30158670|PMID:30341550|PMID:31769227|PMID:32528524|PMID:33726816|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:33083483|PMID:33726816|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25786579|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:33083483|PMID:33726816|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28991257|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28991257|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28991257|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:30701076|PMID:31098894|PMID:31769227|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34008892|PMID:35535697|PMID:8246946|PMID:8317497|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:734332 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16333834|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19816028|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326635|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28344185|PMID:28492532|PMID:28659821|PMID:28679693|PMID:28991257|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:30701076|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33391346|PMID:33726816|PMID:33824467|PMID:34008892|PMID:34958866|PMID:35535697|PMID:35727495|PMID:8246946|PMID:8317497|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0070235 Loeys-Dietz syndrome 1 ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 PMID:16251899|PMID:16928994|PMID:18781618|PMID:18852674|PMID:19006214|PMID:21484991|PMID:22095581|PMID:22113417|PMID:22259224|PMID:23884466|PMID:24792536|PMID:25637381|PMID:25741868|PMID:28492532|PMID:30739908|PMID:32152251 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 ISO RGD:734332 D RGD:7240710 20180130 OMIM 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 ISO RGD:734332 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 | ClinVar Annotator: match by term: Colon cancer, hereditary nonpolyposis, type 6 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 6 PMID:11212236|PMID:12202987|PMID:12825850|PMID:15731757|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:19533785|PMID:19996017|PMID:20956634|PMID:21267002|PMID:21270064|PMID:21524434|PMID:22113417|PMID:22488992|PMID:23103230|PMID:23228659|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24941995|PMID:25116393|PMID:25741868|PMID:25944730|PMID:26017485|PMID:27139629|PMID:27879313|PMID:27930701|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:30341550|PMID:30701076|PMID:32528524|PMID:32897753|PMID:33726816|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0080001 bone disease ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20358619 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0110214 cleft soft palate ISO RGD:734333 D RGD:9068941 20220825 MouseDO OMIM:119570 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:734332 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:10283 prostate cancer ISO RGD:734333 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:11198 DiGeorge syndrome ISO RGD:734333 D RGD:9068941 20220825 MouseDO OMIM:188400 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:734332 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11212236|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17935258|PMID:18781618|PMID:21251594|PMID:21524434|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:32560555|PMID:8246946|PMID:9395234|PMID:9590282 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21324918|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22734312|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28166811|PMID:28225382|PMID:28492532|PMID:28659821|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30158670|PMID:30341550|PMID:30675029|PMID:31769227|PMID:32560555|PMID:33726816|PMID:35535697|PMID:7664267|PMID:7862150|PMID:8246946|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25786579|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27879313|PMID:27930701|PMID:28166811|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:33083483|PMID:33726816|PMID:35535697|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30701076|PMID:30739908|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:32897753|PMID:33083483|PMID:33726816|PMID:33824467|PMID:34422331|PMID:35535697|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:734332 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10789724|PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15299527|PMID:15731757|PMID:16027248|PMID:16199547|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17599521|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20358619|PMID:20628007|PMID:20681224|PMID:20829218|PMID:20838339|PMID:20956634|PMID:21098638|PMID:21251594|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:21949523|PMID:22001912|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22563345|PMID:22734312|PMID:22772368|PMID:22772377|PMID:23099432|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24146167|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25741868|PMID:25925954|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26301661|PMID:26848186|PMID:26877057|PMID:26948038|PMID:27017362|PMID:27100340|PMID:27112580|PMID:27125181|PMID:27139629|PMID:27146836|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28182693|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29907982|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675029|PMID:30675401|PMID:30701076|PMID:30739908|PMID:31098894|PMID:31569402|PMID:31769227|PMID:31915033|PMID:32152251|PMID:32420711|PMID:32528524|PMID:32560555|PMID:32887874|PMID:32897753|PMID:33083483|PMID:33391346|PMID:33726816|PMID:33824467|PMID:34422331|PMID:34498425|PMID:34958866|PMID:35535697|PMID:35727495|PMID:36007983|PMID:7664267|PMID:7862150|PMID:8246946|PMID:8555189|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndrome PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:25786579|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:14323 Marfan syndrome ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:29907982|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:14323 Marfan syndrome susceptibility ISO RGD:734332 D RGD:9068941 20200609 RGD DNA:point mutation, missense mutations: :multiple PMID:15235604|REF_RGD_ID:1579928 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:734332 D RGD:9068941 20200609 RGD DNA:deletion, frameshift mutations (human) PMID:9850059|REF_RGD_ID:2317501 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:734332 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:734332 D RGD:9068941 20200609 RGD protein:increased expresssion:pancreas PMID:11866987|REF_RGD_ID:2317499 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:734332 D RGD:9068941 20200609 RGD mRNA:increased expresssion:pancreas PMID:9365135|REF_RGD_ID:2317502 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:219 colon cancer ISO RGD:734332 D RGD:9068941 20200609 RGD DNA:mutation:polyadenine tract PMID:14988818|REF_RGD_ID:2301065 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:2349 arteriosclerosis ISO RGD:734332 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:16733295|REF_RGD_ID:1580959 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:11703592|REF_RGD_ID:1601601 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:305 carcinoma ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10789724 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:734333 D RGD:9068941 20200609 RGD PMID:17114585|REF_RGD_ID:2317498 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:734332 D RGD:9068941 20200609 RGD mRNA:increased expresssion:pancreas PMID:10547197|REF_RGD_ID:2317500 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:3627 aortic aneurysm ISO RGD:734332 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ascending aortic dilation PMID:16791849|PMID:17061023|PMID:18781618|PMID:24033266|PMID:24793577|PMID:25741868|PMID:28492532|PMID:32560555 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734332 D RGD:7240710 20240207 OMIM 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:17077588|REF_RGD_ID:1601591 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:18781618|PMID:27879313|PMID:28492532 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:3883 Lynch syndrome ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532|PMID:28659821 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:4762 vasculogenic impotence ISO RGD:734332 D RGD:9068941 20200609 RGD protein:increased expression:penis erectile tissue PMID:14718046|REF_RGD_ID:1601627 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:69651 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:12632524|REF_RGD_ID:1299231 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:5041 esophageal cancer ISO RGD:734332 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:10789724|PMID:11212236|PMID:12202987|PMID:12825850|PMID:15731757|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18339844|PMID:18781618|PMID:19533785|PMID:20358619|PMID:21267002|PMID:21270064|PMID:21524434|PMID:22113417|PMID:23228659|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24941995|PMID:25741868|PMID:25944730|PMID:26017485|PMID:27139629|PMID:27879313|PMID:27930701|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:30341550|PMID:30701076|PMID:32528524|PMID:32897753|PMID:33726816|PMID:7664267|PMID:9395234|PMID:9536098 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:557 kidney disease ISO RGD:69651 D RGD:9068941 20200609 RGD chronic nephrotoxicity;mRNA, protein:increased expression:kidney PMID:16980036|REF_RGD_ID:1601593 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:5844 myocardial infarction ISO RGD:69651 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:10198196|REF_RGD_ID:1601617 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:630 genetic disease ISO RGD:734332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15731757|PMID:16928994|PMID:18852674|PMID:20628007|PMID:22772377|PMID:23884466|PMID:25741868|PMID:27139629|PMID:27879313|PMID:28182693|PMID:28344185|PMID:28492532|PMID:28991257 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:6364 migraine ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:6432 pulmonary hypertension ISO RGD:69651 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:17392319|REF_RGD_ID:1601116 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:65 connective tissue disease ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:15235604|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17344846|PMID:18781618|PMID:19996017|PMID:24033266|PMID:24793577|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26133393|PMID:27100340|PMID:27879313|PMID:28225382|PMID:28492532|PMID:29543232|PMID:8246946|PMID:9395234 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:69651 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:14585397|REF_RGD_ID:1601598 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:687 hepatoblastoma ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9000027 Microsatellite Instability ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956|PMID:7761852 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9000111 Radiation Injuries ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:12957270|REF_RGD_ID:1601599 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10789724 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16489006 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:734332 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:12808151|REF_RGD_ID:737735 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:16627068|REF_RGD_ID:1579923 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15942678|PMID:16627068 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:69651 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496156 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9002221 Hyperplasia ISO RGD:69651 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct, duct epithelial cell PMID:12632524|REF_RGD_ID:1299231 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381416 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:69651 D RGD:9068941 20200609 RGD protein:increased expression:synovium PMID:9010265|REF_RGD_ID:1601623 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9002589 Bone Fractures ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20358619 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7761852 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:69651 D RGD:9068941 20200609 RGD PMID:15613744|REF_RGD_ID:1579926 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9004039 Marfan Syndrome Type 2 ISO RGD:734332 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan Syndrome type 2 | ClinVar Annotator: match by term: Marfan like connective tissue disorder PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:30701076|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33391346|PMID:33726816|PMID:33824467|PMID:34958866|PMID:35535697|PMID:35727495|PMID:8246946|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:734332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:11212236|PMID:12825850|PMID:16249459|PMID:16251899|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17345643|PMID:17470566|PMID:17935258|PMID:18781618|PMID:18852674|PMID:19006214|PMID:19875893|PMID:21251594|PMID:21524434|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:29907982|PMID:30158670|PMID:30739908|PMID:32152251|PMID:8246946|PMID:9395234|PMID:9590282|PMID:9771922 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9004389 Bone Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16489006 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11074608 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734332 D RGD:9068941 20200609 RGD PMID:12808151|REF_RGD_ID:737735 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9006045 Dissecting Aneurysm ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027248|PMID:16885183 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:69651 D RGD:9068941 20230527 RGD mRNA:increased expression:carotic artery (rat) PMID:9622270|REF_RGD_ID:329845558 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9006193 Loeys-Dietz Syndrome, Type 1b ISO RGD:734332 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1B PMID:11212236|PMID:12202987|PMID:12821554|PMID:12825850|PMID:15235604|PMID:15731757|PMID:16027248|PMID:16249459|PMID:16251899|PMID:16283890|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16885183|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17330129|PMID:17344846|PMID:17345643|PMID:17418587|PMID:17470566|PMID:17576681|PMID:17652900|PMID:17935258|PMID:18084123|PMID:18781618|PMID:18827873|PMID:18852674|PMID:19006214|PMID:19159394|PMID:19533785|PMID:19542084|PMID:19875893|PMID:19996017|PMID:20144264|PMID:20628007|PMID:20829218|PMID:20956634|PMID:21098638|PMID:21267002|PMID:21270064|PMID:21324918|PMID:21484991|PMID:21524434|PMID:22095581|PMID:22113417|PMID:22259224|PMID:22488992|PMID:22772368|PMID:23103230|PMID:23228659|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24199744|PMID:24220024|PMID:24792536|PMID:24793577|PMID:24941995|PMID:24983314|PMID:25116393|PMID:25203624|PMID:25326637|PMID:25637381|PMID:25644172|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26848186|PMID:26877057|PMID:27100340|PMID:27112580|PMID:27139629|PMID:27508510|PMID:27611364|PMID:27879313|PMID:27930701|PMID:28225382|PMID:28492532|PMID:28659821|PMID:28679693|PMID:29168297|PMID:29339704|PMID:29543232|PMID:30056620|PMID:30158670|PMID:30341550|PMID:30675401|PMID:30701076|PMID:31098894|PMID:31769227|PMID:31915033|PMID:32420711|PMID:32528524|PMID:32897753|PMID:33083483|PMID:33391346|PMID:33726816|PMID:33824467|PMID:34958866|PMID:35535697|PMID:35727495|PMID:8246946|PMID:9395234|PMID:9536098|PMID:9590282|PMID:9771922|PMID:9927040 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9006617 Fatigue ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9007502 Brain Neoplasms ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9008296 Eye Abnormalities ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16885183 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:734332 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Annuloaortic ectasia PMID:11212236|PMID:16791849|PMID:16928994|PMID:17061023|PMID:17319955|PMID:17344846|PMID:17935258|PMID:18781618|PMID:21270064|PMID:21524434|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24941995|PMID:25203624|PMID:25637381|PMID:25741868|PMID:26017485|PMID:26133393|PMID:27930701|PMID:28492532|PMID:8246946 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16368934|PMID:16885183 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9256 colorectal cancer ISO RGD:734332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:25741868|PMID:28492532|PMID:9590282 8890071 Tgfbr2 transforming growth factor beta receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69651 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:11947899|REF_RGD_ID:1601600 8890081 Rpl23a ribosomal protein L23a gene DOID:14330 Parkinson's disease ISO RGD:1312599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18353766 8890081 Rpl23a ribosomal protein L23a gene DOID:630 genetic disease ISO RGD:1312599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890081 Rpl23a ribosomal protein L23a gene DOID:9008939 Breast Neoplasms ISO RGD:1312599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8890093 Foxa3 forkhead box A3 gene DOID:630 genetic disease ISO RGD:1605725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890093 Foxa3 forkhead box A3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 8890093 Foxa3 forkhead box A3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2809 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11018767|REF_RGD_ID:2315085 8890108 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:0060041 autism spectrum disorder ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8890108 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:12849 autistic disorder ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8890108 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1348350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8890108 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8890108 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:5419 schizophrenia ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8890108 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:630 genetic disease ISO RGD:1348350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890108 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:8445 intestinal volvulus ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8890108 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9001885 Nuclear Type Mitochondrial Complex I Deficiency 38 ISO RGD:1348350 D RGD:7240710 20210707 OMIM 8890108 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9001885 Nuclear Type Mitochondrial Complex I Deficiency 38 ISO RGD:1348350 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive PMID:25741868|PMID:33465056|PMID:35091433|PMID:35148383|PMID:35861300|PMID:37579815 8890108 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9004196 Leber Optic Atrophy, Susceptibility To ISO RGD:1348350 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to PMID:25741868|PMID:33465056|PMID:35091433|PMID:35148383|PMID:35861300|PMID:37579815 8890108 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8890108 Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8890113 Nrp1 neuropilin 1 gene DOID:0080600 COVID-19 ISO RGD:733081 D RGD:9068941 20231130 RGD protein:increased expression: pancreatic beta cell PMID:34081912|REF_RGD_ID:401901164 8890113 Nrp1 neuropilin 1 gene DOID:0080600 COVID-19 ISO RGD:733081 D RGD:9068941 20231130 RGD protein:increased expression:olfactory epithelium PMID:33082293|REF_RGD_ID:401901165 8890113 Nrp1 neuropilin 1 gene DOID:10652 Alzheimer's disease ISO RGD:1552955 D RGD:9068941 20231130 RGD mRNA,protein:increased expression:brain PMID:34745215|REF_RGD_ID:401901163 8890113 Nrp1 neuropilin 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:733081 D RGD:9068941 20231130 RGD PMID:34745215|REF_RGD_ID:401901163 8890113 Nrp1 neuropilin 1 gene DOID:1727 retinal vein occlusion ISO RGD:1552955 D RGD:9068941 20220825 MouseDO 8890113 Nrp1 neuropilin 1 gene DOID:1793 pancreatic cancer ISO RGD:733081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956974 8890113 Nrp1 neuropilin 1 gene DOID:224 transient cerebral ischemia ISO RGD:621588 D RGD:9068941 20231130 RGD mRNA:increased expression:brain PMID:33675584|REF_RGD_ID:401901171 8890113 Nrp1 neuropilin 1 gene DOID:289 endometriosis ISO RGD:733081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8890113 Nrp1 neuropilin 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733081 D RGD:9068941 20210514 RGD DNA, protein:CNVs, increased expression:lung PMID:25561764|REF_RGD_ID:126925188 8890113 Nrp1 neuropilin 1 gene DOID:409 liver disease ISO RGD:733081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8890113 Nrp1 neuropilin 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733081 D RGD:9068941 20231130 RGD PMID:31880322|REF_RGD_ID:401901169 8890113 Nrp1 neuropilin 1 gene DOID:552 pneumonia treatment ISO RGD:1552955 D RGD:9068941 20231130 RGD PMID:36373992|REF_RGD_ID:401901166 8890113 Nrp1 neuropilin 1 gene DOID:630 genetic disease ISO RGD:733081 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8890113 Nrp1 neuropilin 1 gene DOID:6419 tetralogy of Fallot susceptibility ISO RGD:733081 D RGD:9068941 20231130 RGD DNA:SNP: :rs2228638(human) PMID:29432830|REF_RGD_ID:401901152 8890113 Nrp1 neuropilin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:733081 D RGD:9068941 20210507 RGD protein:decreased expression:liver PMID:25333267|REF_RGD_ID:126848812 8890113 Nrp1 neuropilin 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1552955 D RGD:9068941 20231130 RGD PMID:26554379|REF_RGD_ID:401901170 8890113 Nrp1 neuropilin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8890113 Nrp1 neuropilin 1 gene DOID:9005396 Intimal Hyperplasia ameliorates ISO RGD:621588 D RGD:9068941 20231130 RGD PMID:26410366|REF_RGD_ID:11528696 8890113 Nrp1 neuropilin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552955 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:10603 glucose intolerance ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:12858 Huntington's disease ISO RGD:1550489 D RGD:9068941 20200609 RGD protein:increased phosphorylation, altered localization:nucleus PMID:21768291|REF_RGD_ID:6484534 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:12858 Huntington's disease ISO RGD:732865 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:21768291|REF_RGD_ID:6484534 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:13580 cholestasis treatment ISO RGD:3387 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:13938 amenorrhea ISO RGD:732865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:1612 breast cancer ISO RGD:732865 D RGD:9068941 20200609 RGD DNA:SNP: :rs10074991 (human) PMID:22562547|REF_RGD_ID:6484541 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:219 colon cancer ISO RGD:732865 D RGD:9068941 20200609 RGD PMID:20622004|REF_RGD_ID:5685669 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732865 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:630 genetic disease ISO RGD:732865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9002661 Diabetes Complications ISO RGD:3387 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21548839|REF_RGD_ID:6484542 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:1550489 D RGD:9068941 20200609 RGD PMID:19486896|REF_RGD_ID:6484540 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9004610 Acute Lung Injury ISO RGD:1550489 D RGD:9068941 20200609 RGD PMID:21595935|REF_RGD_ID:6484539 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9005930 Endotoxemia ISO RGD:1550489 D RGD:9068941 20200609 RGD mRNA:decreased expression:epididymal fat pad PMID:20421294|REF_RGD_ID:6484543 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1550489 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:3387 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007692 Insulin Resistance ISO RGD:3387 D RGD:9068941 20200609 RGD associated with Obesity PMID:22231922|REF_RGD_ID:6484545 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9007692 Insulin Resistance ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934007 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9008114 Helicobacter Infections ISO RGD:732865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3387 D RGD:9068941 20200609 RGD PMID:20054491|REF_RGD_ID:2316808 8890141 Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 gene DOID:9452 steatotic liver disease ISO RGD:1550489 D RGD:9068941 20200609 RGD PMID:19162361|REF_RGD_ID:6484544 8890152 Ocln occludin gene DOID:0050656 pseudo-TORCH syndrome 1 ISO RGD:732985 D RGD:7240710 20180130 OMIM 8890152 Ocln occludin gene DOID:0050656 pseudo-TORCH syndrome 1 ISO RGD:732985 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 PMID:18414213|PMID:19012351|PMID:20727516|PMID:25741868|PMID:28492532 8890152 Ocln occludin gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17015055 8890152 Ocln occludin gene DOID:0081292 traumatic brain injury ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 8890152 Ocln occludin gene DOID:10825 essential hypertension ISO RGD:732985 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 8890152 Ocln occludin gene DOID:13938 amenorrhea ISO RGD:732985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8890152 Ocln occludin gene DOID:14566 disease of cellular proliferation ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982755 8890152 Ocln occludin gene DOID:3021 acute kidney failure ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19766176 8890152 Ocln occludin gene DOID:4481 allergic rhinitis ISO RGD:732985 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:33441633 8890152 Ocln occludin gene DOID:5679 retinal disease ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 8890152 Ocln occludin gene DOID:630 genetic disease ISO RGD:732985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28386946|PMID:28492532 8890152 Ocln occludin gene DOID:8778 Crohn's disease ISO RGD:732985 D RGD:9068941 20200609 RGD PMID:21748286|REF_RGD_ID:11341809 8890152 Ocln occludin gene DOID:8947 diabetic retinopathy treatment ISO RGD:620089 D RGD:9068941 20200609 RGD PMID:25685822|REF_RGD_ID:11341734 8890152 Ocln occludin gene DOID:9002720 Splenomegaly ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17015055 8890152 Ocln occludin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8890152 Ocln occludin gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 8890152 Ocln occludin gene DOID:9007730 Burns ISO RGD:620089 D RGD:9068941 20200609 RGD associated with Binge Drinking;protein:decreased expression, decreased tyrosine, threonine phosphorylation:intestine mucosa: PMID:22001439|REF_RGD_ID:8655996 8890152 Ocln occludin gene DOID:9008086 Developmental Disabilities ISO RGD:732985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 8890152 Ocln occludin gene DOID:9008939 Breast Neoplasms ISO RGD:732985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17459053|PMID:24014025 8890169 Tmem196 transmembrane protein 196 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8890169 Tmem196 transmembrane protein 196 gene DOID:630 genetic disease ISO RGD:1606932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890189 Sdf4 stromal cell derived factor 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8890189 Sdf4 stromal cell derived factor 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731601 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8890189 Sdf4 stromal cell derived factor 4 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8890189 Sdf4 stromal cell derived factor 4 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8890189 Sdf4 stromal cell derived factor 4 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8890189 Sdf4 stromal cell derived factor 4 gene DOID:0110994 Joubert syndrome 25 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8890189 Sdf4 stromal cell derived factor 4 gene DOID:0111934 immunodeficiency 38 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8890189 Sdf4 stromal cell derived factor 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8890189 Sdf4 stromal cell derived factor 4 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:28492532 8890189 Sdf4 stromal cell derived factor 4 gene DOID:5419 schizophrenia ISO RGD:731601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 8890189 Sdf4 stromal cell derived factor 4 gene DOID:630 genetic disease ISO RGD:731601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890189 Sdf4 stromal cell derived factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8890189 Sdf4 stromal cell derived factor 4 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:731601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8890189 Sdf4 stromal cell derived factor 4 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:731601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8890207 Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8890207 Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:12177 common variable immunodeficiency ISO RGD:1603947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8890207 Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603947 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8890207 Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:2729 dyskeratosis congenita ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8890207 Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8890207 Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:630 genetic disease ISO RGD:1603947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8890207 Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit gene DOID:9001540 Snijders Blok-Campeau Syndrome ISO RGD:1603947 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome PMID:25741868 8890208 Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:0080855 Parkinsonism ISO RGD:1606864 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:27134041|PMID:27753167 8890208 Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 8890208 Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1606864 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8890208 Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8890214 Slc30a8 solute carrier family 30 member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317968 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24584071|PMID:31676859 8890214 Slc30a8 solute carrier family 30 member 8 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1317968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8890214 Slc30a8 solute carrier family 30 member 8 gene DOID:206 hereditary multiple exostoses ISO RGD:1317968 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 8890214 Slc30a8 solute carrier family 30 member 8 gene DOID:630 genetic disease ISO RGD:1317968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8890214 Slc30a8 solute carrier family 30 member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17293876|PMID:17460697|PMID:17463246|PMID:17463248|PMID:17463249|PMID:24584071|PMID:31676859 8890214 Slc30a8 solute carrier family 30 member 8 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1317968 D RGD:7240710 20230505 OMIM 8890226 Trex2 three prime repair exonuclease 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354135 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8890226 Trex2 three prime repair exonuclease 2 gene DOID:0050476 Barth syndrome ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8890226 Trex2 three prime repair exonuclease 2 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8890226 Trex2 three prime repair exonuclease 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8890226 Trex2 three prime repair exonuclease 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1354135 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8890226 Trex2 three prime repair exonuclease 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8890226 Trex2 three prime repair exonuclease 2 gene DOID:1059 intellectual disability ISO RGD:1354135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8890226 Trex2 three prime repair exonuclease 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8890226 Trex2 three prime repair exonuclease 2 gene DOID:12849 autistic disorder ISO RGD:1354135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8890226 Trex2 three prime repair exonuclease 2 gene DOID:13628 favism ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8890226 Trex2 three prime repair exonuclease 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1354135 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8890226 Trex2 three prime repair exonuclease 2 gene DOID:607 paraplegia ISO RGD:1354135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8890226 Trex2 three prime repair exonuclease 2 gene DOID:630 genetic disease ISO RGD:1354135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890226 Trex2 three prime repair exonuclease 2 gene DOID:9002720 Splenomegaly ISO RGD:1354135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8890226 Trex2 three prime repair exonuclease 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1562245 D RGD:9068941 20200609 RGD PMID:20973890|REF_RGD_ID:5490977 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:0060074 ductal carcinoma in situ ISO RGD:69155 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14744773|REF_RGD_ID:2290436 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:0080600 COVID-19 ISO RGD:69155 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:1073 renal hypertension ISO RGD:69077 D RGD:9068941 20200609 RGD protein:increased expression:kidney medulla PMID:12923405|REF_RGD_ID:1302333 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:1380 endometrial cancer ISO RGD:69155 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15273280|REF_RGD_ID:2290435 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:2154 nephroblastoma ISO RGD:69155 D RGD:9068941 20200609 RGD PMID:11466614|REF_RGD_ID:2290439 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:69155 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12798711|REF_RGD_ID:2290420 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:69155 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17009974|REF_RGD_ID:2290414 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:4362 cervical cancer disease_progression ISO RGD:69155 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:15816637|REF_RGD_ID:2290434 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:4450 renal cell carcinoma ISO RGD:69155 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11576837|REF_RGD_ID:2290421 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:6000 congestive heart failure ISO RGD:69077 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:10773234|REF_RGD_ID:2290467 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:630 genetic disease ISO RGD:69155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:7693 abdominal aortic aneurysm ISO RGD:69077 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (rat) PMID:15238617|REF_RGD_ID:1302825 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:69155 D RGD:9068941 20200609 RGD PMID:16940965|REF_RGD_ID:2290433 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69155 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:12828172|REF_RGD_ID:2290437 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9001600 Wounds and Injuries ISO RGD:69077 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid artery PMID:10082471|REF_RGD_ID:2290470 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69155 D RGD:9068941 20200609 RGD PMID:16940965|REF_RGD_ID:2290433 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9002457 Experimental Arthritis ISO RGD:69077 D RGD:9068941 20200609 RGD PMID:12483743|REF_RGD_ID:2290463 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9003936 Cardiomegaly ISO RGD:69077 D RGD:9068941 20200609 RGD PMID:10067796|REF_RGD_ID:2290471 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9005605 Arteriovenous Fistula ISO RGD:69077 D RGD:9068941 20200609 RGD protein:decreased expression:ileal vein PMID:17398390|REF_RGD_ID:1642040 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69077 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:12707244|REF_RGD_ID:2290461 8890232 Timp4 TIMP metallopeptidase inhibitor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:69155 D RGD:9068941 20200609 RGD PMID:9190892|REF_RGD_ID:2290455 8890241 Rgs8 regulator of G protein signaling 8 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8890241 Rgs8 regulator of G protein signaling 8 gene DOID:1540 parathyroid carcinoma ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8890241 Rgs8 regulator of G protein signaling 8 gene DOID:630 genetic disease ISO RGD:737105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890241 Rgs8 regulator of G protein signaling 8 gene DOID:9007090 Experimental Seizures ISO RGD:3571 D RGD:9068941 20200609 RGD PMID:12358788|REF_RGD_ID:13524540 8890241 Rgs8 regulator of G protein signaling 8 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8890241 Rgs8 regulator of G protein signaling 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8890268 Arhgap44 Rho GTPase activating protein 44 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1604841 D RGD:9068941 20231207 RGD mRNA:increased expression: (human) PMID:36595475|REF_RGD_ID:401901275 8890268 Arhgap44 Rho GTPase activating protein 44 gene DOID:3905 lung carcinoma ISO RGD:1604841 D RGD:9068941 20231209 RGD mRNA:decreased expression:lung (human) PMID:28527113|REF_RGD_ID:401901290 8890268 Arhgap44 Rho GTPase activating protein 44 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1604841 D RGD:9068941 20231209 RGD mRNA:decreased expression:lung (human) PMID:28527113|REF_RGD_ID:401901290 8890268 Arhgap44 Rho GTPase activating protein 44 gene DOID:3910 lung adenocarcinoma ISO RGD:1604841 D RGD:9068941 20231209 RGD mRNA:decreased expression:lung (human) PMID:28527113|REF_RGD_ID:401901290 8890268 Arhgap44 Rho GTPase activating protein 44 gene DOID:4556 lung large cell carcinoma ISO RGD:1604841 D RGD:9068941 20231209 RGD mRNA:decreased expression:lung (human) PMID:28527113|REF_RGD_ID:401901290 8890268 Arhgap44 Rho GTPase activating protein 44 gene DOID:630 genetic disease ISO RGD:1604841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890268 Arhgap44 Rho GTPase activating protein 44 gene DOID:635 acquired immunodeficiency syndrome disease_progression ISO RGD:1604841 D RGD:9068941 20231209 RGD DNA:SNP:intron: (rs2072255) (human) PMID:21107268|REF_RGD_ID:401901289 8890268 Arhgap44 Rho GTPase activating protein 44 gene DOID:635 acquired immunodeficiency syndrome disease_progression ISO RGD:1604841 D RGD:9068941 20231209 RGD DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human) PMID:28069446|REF_RGD_ID:401901288 8890268 Arhgap44 Rho GTPase activating protein 44 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1604841 D RGD:9068941 20231207 RGD protein:decreased expression:liver (human) PMID:31136984|REF_RGD_ID:401901276 8890268 Arhgap44 Rho GTPase activating protein 44 gene DOID:8923 skin melanoma severity ISO RGD:1604841 D RGD:9068941 20231207 RGD DNA:SNP:intron: (rs72635537) (human) PMID:28510328|REF_RGD_ID:401901274 8890293 Cpt1c carnitine palmitoyltransferase 1C gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1313382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8890293 Cpt1c carnitine palmitoyltransferase 1C gene DOID:0110818 hereditary spastic paraplegia 73 ISO RGD:1313382 D RGD:7240710 20180130 OMIM 8890293 Cpt1c carnitine palmitoyltransferase 1C gene DOID:0110818 hereditary spastic paraplegia 73 ISO RGD:1313382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25751282|PMID:28492532|PMID:30564185|PMID:30911584|PMID:9536098 8890293 Cpt1c carnitine palmitoyltransferase 1C gene DOID:1909 melanoma ISO RGD:1313382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8890293 Cpt1c carnitine palmitoyltransferase 1C gene DOID:574 peripheral nervous system disease ISO RGD:1313382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 8890293 Cpt1c carnitine palmitoyltransferase 1C gene DOID:607 paraplegia ISO RGD:1313382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868 8890293 Cpt1c carnitine palmitoyltransferase 1C gene DOID:630 genetic disease ISO RGD:1313382 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8890336 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:10762 portal hypertension ISO RGD:1310421 D RGD:9068941 20200609 RGD protein:increased expression:mesentary PMID:26627607|REF_RGD_ID:11528851 8890336 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:10762 portal hypertension treatment ISO RGD:1321315 D RGD:9068941 20200609 RGD PMID:26627607|REF_RGD_ID:11528851 8890336 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1310421 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 8890336 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:13938 amenorrhea ISO RGD:1321314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8890336 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1321314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8890336 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:1310421 D RGD:9068941 20200609 RGD PMID:23360795|REF_RGD_ID:9685152 8890336 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1321314 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 8890336 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:630 genetic disease ISO RGD:1321314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890336 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1321314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062064 8890336 Cpeb1 cytoplasmic polyadenylation element binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1321314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8890366 Actn3 actinin alpha 3 gene DOID:1059 intellectual disability ISO RGD:734136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8890366 Actn3 actinin alpha 3 gene DOID:630 genetic disease ISO RGD:734136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890366 Actn3 actinin alpha 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:734136 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8890366 Actn3 actinin alpha 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:734136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8890396 Prr9 proline rich 9 gene DOID:0111940 immunodeficiency 42 ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8890396 Prr9 proline rich 9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8890396 Prr9 proline rich 9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:4143661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8890396 Prr9 proline rich 9 gene DOID:1540 parathyroid carcinoma ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8890396 Prr9 proline rich 9 gene DOID:5812 MHC class II deficiency ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8890396 Prr9 proline rich 9 gene DOID:630 genetic disease ISO RGD:4143661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890396 Prr9 proline rich 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:4143661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8890402 Maip1 matrix AAA peptidase interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8890414 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:0110264 cataract 33 ISO RGD:736345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 33 PMID:28492532 8890414 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:5844 myocardial infarction ISO RGD:736345 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs6080699) (human) PMID:20036365|REF_RGD_ID:6483554 8890414 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:630 genetic disease ISO RGD:736345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890414 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:784 chronic kidney disease ISO RGD:3273 D RGD:9068941 20200609 RGD PMID:18039782|REF_RGD_ID:6483556 8890414 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3273 D RGD:9068941 20200609 RGD PMID:19142196|REF_RGD_ID:6483555 8890414 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9004009 Reperfusion Injury ISO RGD:736346 D RGD:9068941 20200609 RGD PMID:19142196|REF_RGD_ID:6483555 8890414 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005372 Inflammation ISO RGD:3273 D RGD:9068941 20200609 RGD PMID:14630714|REF_RGD_ID:2308900 8890414 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3273 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen PMID:11730986|REF_RGD_ID:2308905 8890414 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8890414 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9005930 Endotoxemia ISO RGD:3273 D RGD:9068941 20200609 RGD PMID:16337011|REF_RGD_ID:6483567 8890414 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8890414 Pcsk2 proprotein convertase subtilisin/kexin type 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736345 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS2CA (human) PMID:7698505|REF_RGD_ID:2308936 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050534 congenital stationary night blindness ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28041643|PMID:28492532|PMID:30825406|PMID:9662399|PMID:9662400 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050572 cone-rod dystrophy ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:28492532|PMID:30718709 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050572 cone-rod dystrophy ISO RGD:731992 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532|PMID:30576320|PMID:30718709|PMID:36909829 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050630 Aland Island eye disease ISO RGD:731992 D RGD:7240710 20180130 OMIM 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0050630 Aland Island eye disease ISO RGD:731992 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:11281458|PMID:14230113|PMID:16199547|PMID:17525176|PMID:22183355|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26747767|PMID:26992781|PMID:28002560|PMID:28341476|PMID:28492532|PMID:28838317|PMID:30718709|PMID:30825406|PMID:9662399 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:731992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0110871 congenital stationary night blindness 2A ISO RGD:731992 D RGD:7240710 20180130 OMIM 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0110871 congenital stationary night blindness 2A ISO RGD:731992 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 PMID:10900517|PMID:11281458|PMID:12111638|PMID:12187427|PMID:12719097|PMID:15807819|PMID:15897456|PMID:16199547|PMID:17525176|PMID:17949918|PMID:19578023|PMID:22183355|PMID:22194652|PMID:23714322|PMID:24033266|PMID:24051672|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26747767|PMID:26992781|PMID:28002560|PMID:28041643|PMID:28492532|PMID:28838317|PMID:30576320|PMID:30718709|PMID:30825406|PMID:33037074|PMID:36909829|PMID:9529339|PMID:9662399|PMID:9662400 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0111007 X-linked cone-rod dystrophy 3 ISO RGD:731992 D RGD:7240710 20180130 OMIM 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0111007 X-linked cone-rod dystrophy 3 ISO RGD:731992 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: X-linked cone-rod dystrophy 3 PMID:11281458|PMID:15897456|PMID:16199547|PMID:17525176|PMID:22183355|PMID:22194652|PMID:23776498|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28492532|PMID:28838317|PMID:29127258|PMID:29854783|PMID:30718709|PMID:30825406|PMID:31651202|PMID:9662399 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:731992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:731992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:10584 retinitis pigmentosa ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:30718709 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:10584 retinitis pigmentosa ISO RGD:731992 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709|PMID:34906470 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:11830 myopia ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:12849 autistic disorder ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:4448 macular degeneration ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:17576681|PMID:28492532|PMID:30718709|PMID:9536098 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:630 genetic disease ISO RGD:731992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:8501 fundus dystrophy ISO RGD:731992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11281458|PMID:12552565|PMID:17525176|PMID:19578023|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28002560|PMID:28041643|PMID:28492532|PMID:30718709|PMID:9662399 8890431 Cacna1f calcium voltage-gated channel subunit alpha1 F gene DOID:9008296 Eye Abnormalities ISO RGD:731992 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868|PMID:28041643 8890490 Itgb3 integrin subunit beta 3 gene DOID:0050864 non-arteritic anterior ischemic optic neuropathy susceptibility ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:20162297|REF_RGD_ID:8693343 8890490 Itgb3 integrin subunit beta 3 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:16121636|REF_RGD_ID:10755468 8890490 Itgb3 integrin subunit beta 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254450 8890490 Itgb3 integrin subunit beta 3 gene DOID:0060691 platelet-type bleeding disorder 16 ISO RGD:1345363 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 16 PMID:1371279|PMID:19570064|PMID:19821948|PMID:20106508|PMID:20804530|PMID:21287507|PMID:21917754|PMID:22490273|PMID:22862885|PMID:24617330|PMID:25741868|PMID:28492532|PMID:9351872 8890490 Itgb3 integrin subunit beta 3 gene DOID:0080199 colorectal carcinoma severity ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:11299820|REF_RGD_ID:5112894 8890490 Itgb3 integrin subunit beta 3 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:1345363 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:18419255|REF_RGD_ID:6907404 8890490 Itgb3 integrin subunit beta 3 gene DOID:11847 coronary thrombosis ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8598867 8890490 Itgb3 integrin subunit beta 3 gene DOID:12361 Graves' disease ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:23109646|REF_RGD_ID:8693341 8890490 Itgb3 integrin subunit beta 3 gene DOID:12849 autistic disorder ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16721604|PMID:16724005|PMID:17203304 8890490 Itgb3 integrin subunit beta 3 gene DOID:13001 carotid stenosis ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:15007005|REF_RGD_ID:1582450 8890490 Itgb3 integrin subunit beta 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:733132 D RGD:9068941 20200609 RGD PMID:21804539|REF_RGD_ID:6907385 8890490 Itgb3 integrin subunit beta 3 gene DOID:1588 thrombocytopenia ISO RGD:1345363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362 8890490 Itgb3 integrin subunit beta 3 gene DOID:2213 hemorrhagic disease ISO RGD:1345363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:31064749 8890490 Itgb3 integrin subunit beta 3 gene DOID:2219 Glanzmann's thrombasthenia ISO RGD:1345363 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: Glanzmann thrombasthenia type A PMID:10233432|PMID:10583927|PMID:10727448|PMID:10891446|PMID:11507099|PMID:11723016|PMID:11776310|PMID:11806996|PMID:12083483|PMID:12152649|PMID:12353082|PMID:1371279|PMID:1430225|PMID:1438206|PMID:14516468|PMID:14690453|PMID:15583747|PMID:15634267|PMID:1602006|PMID:16199547|PMID:16463284|PMID:16722529|PMID:17264806|PMID:17576681|PMID:18832906|PMID:19570064|PMID:19691478|PMID:19821948|PMID:20020534|PMID:20106508|PMID:2014236|PMID:20438394|PMID:20804530|PMID:21113249|PMID:21287507|PMID:21658138|PMID:21917754|PMID:22250950|PMID:22490273|PMID:22862885|PMID:23300803|PMID:2392682|PMID:24236036|PMID:2428841|PMID:24617330|PMID:24685245|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25827233|PMID:26829726|PMID:27469266|PMID:28492532|PMID:28748566|PMID:28983057|PMID:30138987|PMID:30792900|PMID:30828542|PMID:31064749|PMID:31088191|PMID:31565851|PMID:31859394|PMID:32139434|PMID:32581362|PMID:32757236|PMID:34355501|PMID:36122578|PMID:7570918|PMID:7694683|PMID:8080992|PMID:8132570|PMID:8457479|PMID:8598867|PMID:8667943|PMID:8781422|PMID:8838346|PMID:8878424|PMID:9050889|PMID:9215749|PMID:9351872|PMID:9376589|PMID:9450787|PMID:9536098|PMID:9700201|PMID:9787162|PMID:9845537 8890490 Itgb3 integrin subunit beta 3 gene DOID:224 transient cerebral ischemia ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:18638458|REF_RGD_ID:6907424 8890490 Itgb3 integrin subunit beta 3 gene DOID:2349 arteriosclerosis ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:12746502|REF_RGD_ID:5100478 8890490 Itgb3 integrin subunit beta 3 gene DOID:2841 asthma ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:17556058|REF_RGD_ID:5037230 8890490 Itgb3 integrin subunit beta 3 gene DOID:2921 glomerulonephritis ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:11051455|REF_RGD_ID:6907411 8890490 Itgb3 integrin subunit beta 3 gene DOID:2921 glomerulonephritis ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:8083378|REF_RGD_ID:6907420 8890490 Itgb3 integrin subunit beta 3 gene DOID:3410 carotid artery thrombosis ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1605806 8890490 Itgb3 integrin subunit beta 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:19386436|REF_RGD_ID:5037228 8890490 Itgb3 integrin subunit beta 3 gene DOID:552 pneumonia disease_progression ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:12746502|REF_RGD_ID:5100478 8890490 Itgb3 integrin subunit beta 3 gene DOID:5844 myocardial infarction ISO RGD:1345363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:10583927|PMID:10727448|PMID:11723016|PMID:17264806|PMID:2014236|PMID:25728920|PMID:25741868|PMID:28492532|PMID:7570918|PMID:8598867|PMID:8667943|PMID:8838346|PMID:9700201 8890490 Itgb3 integrin subunit beta 3 gene DOID:5844 myocardial infarction no_association ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:9716140|REF_RGD_ID:5128498 8890490 Itgb3 integrin subunit beta 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345363 D RGD:7240710 20240320 OMIM 8890490 Itgb3 integrin subunit beta 3 gene DOID:630 genetic disease ISO RGD:1345363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8890490 Itgb3 integrin subunit beta 3 gene DOID:783 end stage renal disease ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:polymorphism PMID:19368146|REF_RGD_ID:6907396 8890490 Itgb3 integrin subunit beta 3 gene DOID:850 lung disease ISO RGD:737483 D RGD:9068941 20200609 RGD acute lung injury PMID:19272161|REF_RGD_ID:5037229 8890490 Itgb3 integrin subunit beta 3 gene DOID:874 bacterial pneumonia ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:lung, neutrophil PMID:15114484|REF_RGD_ID:4993468 8890490 Itgb3 integrin subunit beta 3 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:10936026|REF_RGD_ID:10755473 8890490 Itgb3 integrin subunit beta 3 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:24258817|REF_RGD_ID:10755475 8890490 Itgb3 integrin subunit beta 3 gene DOID:8947 diabetic retinopathy ISO RGD:1345363 D RGD:9068941 20200609 RGD protein:increased expression:optic choroid vascular plexus: PMID:11375345|REF_RGD_ID:8693344 8890490 Itgb3 integrin subunit beta 3 gene DOID:9000146 Plaque, Atherosclerotic severity ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:SNP: :rs5918(human) PMID:21353223|REF_RGD_ID:13602095 8890490 Itgb3 integrin subunit beta 3 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with Chronic Allograft Dysfunction;protein:increased expression:arteriole PMID:18234279|REF_RGD_ID:10755463 8890490 Itgb3 integrin subunit beta 3 gene DOID:9000430 Platelet-Type Bleeding Disorder 24 ISO RGD:1345363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 24 PMID:15583747|PMID:18065693|PMID:19336737|PMID:20081061|PMID:20804530|PMID:23253071|PMID:25741868|PMID:27469266|PMID:28492532|PMID:33276370 8890490 Itgb3 integrin subunit beta 3 gene DOID:9000430 Platelet-Type Bleeding Disorder 24 susceptibility ISO RGD:1345363 D RGD:7240710 20240320 OMIM 8890490 Itgb3 integrin subunit beta 3 gene DOID:9000528 Coronary Disease ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:10583927|REF_RGD_ID:5128478 8890490 Itgb3 integrin subunit beta 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:15817799|REF_RGD_ID:5037231 8890490 Itgb3 integrin subunit beta 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with renal cell carcinoma;DNA:missense mutation:cds:p.L33P (human) PMID:16831169|REF_RGD_ID:6907406 8890490 Itgb3 integrin subunit beta 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737483 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21107114|REF_RGD_ID:5037225 8890490 Itgb3 integrin subunit beta 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8890490 Itgb3 integrin subunit beta 3 gene DOID:9001627 Pathologic Constriction ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:9315527|REF_RGD_ID:5128501 8890490 Itgb3 integrin subunit beta 3 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15840736 8890490 Itgb3 integrin subunit beta 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16158739 8890490 Itgb3 integrin subunit beta 3 gene DOID:9002319 Glanzmann Thrombasthenia 1 ISO RGD:1345363 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 1 PMID:11776310|PMID:11806996|PMID:1371279|PMID:15583747|PMID:1602006|PMID:16463284|PMID:20106508|PMID:21917754|PMID:25728920|PMID:25741868|PMID:28492532|PMID:30138987|PMID:32757236|PMID:9050889|PMID:9215749|PMID:9351872|PMID:9376589 8890490 Itgb3 integrin subunit beta 3 gene DOID:9002457 Experimental Arthritis ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:16869003|REF_RGD_ID:2317300 8890490 Itgb3 integrin subunit beta 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 8890490 Itgb3 integrin subunit beta 3 gene DOID:9003340 Neonatal Alloimmune Thrombocytopenia ISO RGD:1345363 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ca/Tu ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia | ClinVar Annotator: match by term: Mo ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM PMID:1430225|PMID:14516468|PMID:21658138|PMID:2257303|PMID:25741868|PMID:25827233|PMID:28370162|PMID:28492532|PMID:7694683|PMID:8093349|PMID:8457479|PMID:9787162 8890490 Itgb3 integrin subunit beta 3 gene DOID:9003758 Banti's Syndrome ISO RGD:1345363 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.L33P (human) PMID:18685811|REF_RGD_ID:10755472 8890490 Itgb3 integrin subunit beta 3 gene DOID:9003790 Posttransfusion Purpura ISO RGD:1345363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM PMID:1430225|PMID:14516468|PMID:21658138|PMID:25741868|PMID:28492532|PMID:9787162 8890490 Itgb3 integrin subunit beta 3 gene DOID:9003790 Posttransfusion Purpura susceptibility ISO RGD:1345363 D RGD:7240710 20240320 OMIM 8890490 Itgb3 integrin subunit beta 3 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; DNA:polymorphism: : PMID:21813062|REF_RGD_ID:8693342 8890490 Itgb3 integrin subunit beta 3 gene DOID:9004009 Reperfusion Injury ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:11705748|REF_RGD_ID:2316361 8890490 Itgb3 integrin subunit beta 3 gene DOID:9005175 Ulcer susceptibility ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; DNA:polymorphism: : PMID:21813062|REF_RGD_ID:8693342 8890490 Itgb3 integrin subunit beta 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland: PMID:22022542|REF_RGD_ID:8693386 8890490 Itgb3 integrin subunit beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:aorta: PMID:12606526|REF_RGD_ID:8693385 8890490 Itgb3 integrin subunit beta 3 gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with HIV Infections PMID:8565280|REF_RGD_ID:10755471 8890490 Itgb3 integrin subunit beta 3 gene DOID:9005876 Thrombocytopenic Purpura ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:11493456|REF_RGD_ID:2316362 8890490 Itgb3 integrin subunit beta 3 gene DOID:9005930 Endotoxemia ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:15280099|REF_RGD_ID:2316360 8890490 Itgb3 integrin subunit beta 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:628868 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:17868879|REF_RGD_ID:4892652 8890490 Itgb3 integrin subunit beta 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:628868 D RGD:9068941 20230527 RGD mRNA:increased expression:carotic artery (rat) PMID:9622270|REF_RGD_ID:329845558 8890490 Itgb3 integrin subunit beta 3 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:628868 D RGD:9068941 20200609 RGD neointima PMID:16793666|REF_RGD_ID:4990460 8890490 Itgb3 integrin subunit beta 3 gene DOID:9007096 Stroke ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9445356 8890490 Itgb3 integrin subunit beta 3 gene DOID:9007096 Stroke ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with hypertension; DNA:polymorphism:exon PMID:20846430|REF_RGD_ID:5128476 8890490 Itgb3 integrin subunit beta 3 gene DOID:9007096 Stroke ISO RGD:628868 D RGD:9068941 20200609 RGD PMID:15678115|REF_RGD_ID:2316358 8890490 Itgb3 integrin subunit beta 3 gene DOID:9007265 Hip Fractures ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17264806 8890490 Itgb3 integrin subunit beta 3 gene DOID:9007402 Gliosis ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 8890490 Itgb3 integrin subunit beta 3 gene DOID:9007533 Hantavirus Infections ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:15886525|REF_RGD_ID:6907410 8890490 Itgb3 integrin subunit beta 3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1345363 D RGD:9068941 20200609 RGD associated with arteriosclerosis; DNA:polymorphism:exon PMID:20846430|REF_RGD_ID:5128476 8890490 Itgb3 integrin subunit beta 3 gene DOID:9008217 Hemorrhage ISO RGD:1345363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16153930 8890490 Itgb3 integrin subunit beta 3 gene DOID:9008438 Glanzmann Thrombasthenia 2 ISO RGD:1345363 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glanzmann thrombasthenia 2 PMID:11806996|PMID:1371279|PMID:1438206|PMID:15583747|PMID:1602006|PMID:16199547|PMID:16463284|PMID:18064323|PMID:18458089|PMID:20020534|PMID:20106508|PMID:2014236|PMID:21917754|PMID:2392682|PMID:2428841|PMID:25539746|PMID:25728920|PMID:25741868|PMID:28492532|PMID:28983057|PMID:30138987|PMID:30828542|PMID:32757236|PMID:34355501|PMID:8080992|PMID:8471765|PMID:8781422|PMID:9050889|PMID:9160670|PMID:9215749|PMID:9351872|PMID:9376589|PMID:9845537 8890490 Itgb3 integrin subunit beta 3 gene DOID:9008438 Glanzmann Thrombasthenia 2 susceptibility ISO RGD:1345363 D RGD:7240710 20240320 OMIM 8890490 Itgb3 integrin subunit beta 3 gene DOID:9119 acute myeloid leukemia ISO RGD:737483 D RGD:9068941 20200609 RGD PMID:23770013|REF_RGD_ID:10755448 8890490 Itgb3 integrin subunit beta 3 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1345363 D RGD:9068941 20200609 RGD PMID:23770013|REF_RGD_ID:10755448 8890510 Csf1 colony stimulating factor 1 gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:18981160|REF_RGD_ID:7257572 8890510 Csf1 colony stimulating factor 1 gene DOID:0080162 lupus nephritis ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:17659436|REF_RGD_ID:7257589 8890510 Csf1 colony stimulating factor 1 gene DOID:0080162 lupus nephritis ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:21885670|REF_RGD_ID:7257567 8890510 Csf1 colony stimulating factor 1 gene DOID:0080600 COVID-19 ISO RGD:731066 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8890510 Csf1 colony stimulating factor 1 gene DOID:0080600 COVID-19 severity ISO RGD:731066 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 8890510 Csf1 colony stimulating factor 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:731066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8890510 Csf1 colony stimulating factor 1 gene DOID:12849 autistic disorder ISO RGD:731066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8890510 Csf1 colony stimulating factor 1 gene DOID:13533 osteopetrosis ISO RGD:621063 D RGD:9068941 20200609 RGD DNA:insertion:cds (rat) PMID:12379742|REF_RGD_ID:628338 8890510 Csf1 colony stimulating factor 1 gene DOID:13533 osteopetrosis ISO RGD:731067 D RGD:9068941 20220825 MouseDO 8890510 Csf1 colony stimulating factor 1 gene DOID:13949 interstitial cystitis treatment ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:22441309|REF_RGD_ID:7241234 8890510 Csf1 colony stimulating factor 1 gene DOID:1612 breast cancer ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:18172291|REF_RGD_ID:2293639 8890510 Csf1 colony stimulating factor 1 gene DOID:1790 malignant mesothelioma ISO RGD:731066 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8890510 Csf1 colony stimulating factor 1 gene DOID:1936 atherosclerosis ISO RGD:731066 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:16166801|REF_RGD_ID:7257575 8890510 Csf1 colony stimulating factor 1 gene DOID:1936 atherosclerosis ISO RGD:731067 D RGD:9068941 20200609 RGD protein:increased expression:plasma (mouse) PMID:9637704|REF_RGD_ID:734837 8890510 Csf1 colony stimulating factor 1 gene DOID:289 endometriosis ISO RGD:731066 D RGD:9068941 20200813 RGD protein:increased expression:peritoneal fluid (human) PMID:22365076|REF_RGD_ID:38500240 8890510 Csf1 colony stimulating factor 1 gene DOID:2921 glomerulonephritis ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:11477167|REF_RGD_ID:7257579 8890510 Csf1 colony stimulating factor 1 gene DOID:3021 acute kidney failure ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:23143303|REF_RGD_ID:7257565 8890510 Csf1 colony stimulating factor 1 gene DOID:3070 high grade glioma ISO RGD:621063 D RGD:9068941 20200609 RGD PMID:15728459|REF_RGD_ID:2293641 8890510 Csf1 colony stimulating factor 1 gene DOID:418 systemic scleroderma ISO RGD:621063 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:22700848|REF_RGD_ID:7257593 8890510 Csf1 colony stimulating factor 1 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:621063 D RGD:9068941 20200609 RGD PMID:19242505|REF_RGD_ID:7257569 8890510 Csf1 colony stimulating factor 1 gene DOID:5199 ureteral obstruction ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:16951369|REF_RGD_ID:7257574 8890510 Csf1 colony stimulating factor 1 gene DOID:5199 ureteral obstruction ISO RGD:731067 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:23628901|REF_RGD_ID:7257564 8890510 Csf1 colony stimulating factor 1 gene DOID:5408 Paget's disease of bone ISO RGD:731066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436471 8890510 Csf1 colony stimulating factor 1 gene DOID:630 genetic disease ISO RGD:731066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890510 Csf1 colony stimulating factor 1 gene DOID:783 end stage renal disease ISO RGD:731066 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11340249|REF_RGD_ID:7257586 8890510 Csf1 colony stimulating factor 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:621063 D RGD:9068941 20200609 RGD PMID:9158105|REF_RGD_ID:1641957 8890510 Csf1 colony stimulating factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731066 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18510570|REF_RGD_ID:2293638 8890510 Csf1 colony stimulating factor 1 gene DOID:9001542 Albuminuria treatment ISO RGD:621063 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia and Diabetes Mellitus, Experimental PMID:8573750|REF_RGD_ID:7257591 8890510 Csf1 colony stimulating factor 1 gene DOID:9002371 Cardiotoxicity ISO RGD:731066 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32068018 8890510 Csf1 colony stimulating factor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:621063 D RGD:9068941 20210709 RGD protein:increased expression:dorsal root ganglion PMID:32510872|REF_RGD_ID:127338469 8890510 Csf1 colony stimulating factor 1 gene DOID:9004001 Facial Nerve Injuries ISO RGD:621063 D RGD:9068941 20200609 RGD protein:increased expression:facial VII nerve, microglial cell PMID:20831658|REF_RGD_ID:5131509 8890510 Csf1 colony stimulating factor 1 gene DOID:9004283 Transplant Rejection ISO RGD:621063 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11981428|REF_RGD_ID:7257590 8890510 Csf1 colony stimulating factor 1 gene DOID:9004283 Transplant Rejection ISO RGD:731066 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19196448|REF_RGD_ID:7257570 8890510 Csf1 colony stimulating factor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:15205327|REF_RGD_ID:2293710 8890510 Csf1 colony stimulating factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621063 D RGD:9068941 20220407 RGD mRNA,protein:increased expression:retina (rat) PMID:19219684|REF_RGD_ID:151665779 8890510 Csf1 colony stimulating factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:731066 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19196448|REF_RGD_ID:7257570 8890510 Csf1 colony stimulating factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:23143303|REF_RGD_ID:7257565 8890510 Csf1 colony stimulating factor 1 gene DOID:9007083 Edentulous Mouth ISO RGD:621063 D RGD:9068941 20210219 RGD PMID:12379742|REF_RGD_ID:628338 8890510 Csf1 colony stimulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16618760 8890510 Csf1 colony stimulating factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:16618760|REF_RGD_ID:2293640 8890510 Csf1 colony stimulating factor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:731067 D RGD:9068941 20200609 RGD PMID:15383612|REF_RGD_ID:7257578 8890510 Csf1 colony stimulating factor 1 gene DOID:9120 amyloidosis ISO RGD:731066 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:12038073|REF_RGD_ID:7257581 8890510 Csf1 colony stimulating factor 1 gene DOID:9620 vesicoureteral reflux ISO RGD:731066 D RGD:9068941 20200609 RGD PMID:12110011|REF_RGD_ID:7257580 8890548 Psapl1 prosaposin like 1 gene DOID:630 genetic disease ISO RGD:1603414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890556 Mapkapk3 MAPK activated protein kinase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8890556 Mapkapk3 MAPK activated protein kinase 3 gene DOID:0060863 patterned macular dystrophy ISO RGD:1312732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8890556 Mapkapk3 MAPK activated protein kinase 3 gene DOID:0060865 patterned macular dystrophy 3 ISO RGD:1312732 D RGD:7240710 20190315 OMIM 8890556 Mapkapk3 MAPK activated protein kinase 3 gene DOID:0060865 patterned macular dystrophy 3 ISO RGD:1312732 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: MAPKAPK3-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 3 PMID:25741868|PMID:26744326|PMID:28492532 8890556 Mapkapk3 MAPK activated protein kinase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8890556 Mapkapk3 MAPK activated protein kinase 3 gene DOID:12365 malaria ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:20484391 8890556 Mapkapk3 MAPK activated protein kinase 3 gene DOID:399 tuberculosis ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberculosis, susceptibility to PMID:20484391 8890556 Mapkapk3 MAPK activated protein kinase 3 gene DOID:630 genetic disease ISO RGD:1312732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8890556 Mapkapk3 MAPK activated protein kinase 3 gene DOID:9005036 Bacteremia ISO RGD:1312732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 PMID:20484391 8890584 Tmem39b transmembrane protein 39B gene DOID:630 genetic disease ISO RGD:1351966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890597 Mdh1b malate dehydrogenase 1B gene DOID:14557 primary pulmonary hypertension ISO RGD:1317321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8890597 Mdh1b malate dehydrogenase 1B gene DOID:630 genetic disease ISO RGD:1317321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890597 Mdh1b malate dehydrogenase 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8890632 Nlgn4x neuroligin 4 X-linked gene DOID:0050432 Asperger syndrome ISO RGD:1603020 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Asperger syndrome, X-linked, susceptibility to, 2 PMID:18189281|PMID:18231125|PMID:19726642|PMID:23468870|PMID:24570023|PMID:25675530|PMID:25741868|PMID:26055424|PMID:28492532|PMID:34963808 8890632 Nlgn4x neuroligin 4 X-linked gene DOID:0060041 autism spectrum disorder ISO RGD:1603020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8890632 Nlgn4x neuroligin 4 X-linked gene DOID:1059 intellectual disability ISO RGD:1603020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8890632 Nlgn4x neuroligin 4 X-linked gene DOID:12849 autistic disorder ISO RGD:1603020 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 2 PMID:11368788|PMID:12669065|PMID:14963808|PMID:15150161|PMID:18231125|PMID:19377476|PMID:21681106|PMID:23431752|PMID:25326635|PMID:25741868|PMID:28492532|PMID:30208311 8890632 Nlgn4x neuroligin 4 X-linked gene DOID:12849 autistic disorder susceptibility ISO RGD:1603020 D RGD:7240710 20240320 OMIM 8890632 Nlgn4x neuroligin 4 X-linked gene DOID:630 genetic disease ISO RGD:1603020 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15622415|PMID:18093521|PMID:19377476|PMID:19645625|PMID:23431752|PMID:23851596|PMID:24362370|PMID:25741868|PMID:28492532 8890632 Nlgn4x neuroligin 4 X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:0050127 sinusitis ISO RGD:733635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:0060058 lymphoma susceptibility ISO RGD:1552611 D RGD:9068941 20200609 RGD PMID:21670604|REF_RGD_ID:10043812 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:733635 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25741868|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:0111565 trichodontoosseous syndrome ISO RGD:733635 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:10652 Alzheimer's disease ISO RGD:1552611 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (mouse) PMID:23764848|REF_RGD_ID:10043802 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:10652 Alzheimer's disease severity ISO RGD:733635 D RGD:9068941 20200609 RGD protein:decreased expression:brain, synaptosome (human) PMID:23764848|REF_RGD_ID:10043802 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:14330 Parkinson's disease ISO RGD:632281 D RGD:9068941 20200609 RGD protein:altered localization:striate nucleus (rat) PMID:18372251|REF_RGD_ID:10043801 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:5419 schizophrenia ISO RGD:733635 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampal formation (human) PMID:15465982|REF_RGD_ID:9999381 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:630 genetic disease ISO RGD:733635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:684 hepatocellular carcinoma severity ISO RGD:733635 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (human) PMID:23591196|REF_RGD_ID:10043803 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:9001472 Nasal Polyps ISO RGD:733635 D RGD:9068941 20200609 RGD associated with Chronic Rhinosinusitis;mRNA:increased expression:mucosa of paranasal sinus (human) PMID:18391768|REF_RGD_ID:9999402 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:9002775 Cognitive Dysfunction ISO RGD:632281 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, insoluble fraction (rat) PMID:24069387|REF_RGD_ID:9999367 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:9005172 Lung Neoplasms severity ISO RGD:733635 D RGD:9068941 20200609 RGD protein:decreased expression:lung (human) PMID:21598252|REF_RGD_ID:10043809 8890650 Ppp1r9b protein phosphatase 1 regulatory subunit 9B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:733635 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colorectal carcinoma (human) PMID:23729363|REF_RGD_ID:9999401 8890664 Slc16a12 solute carrier family 16 member 12 gene DOID:0070353 cataract 47 ISO RGD:1606094 D RGD:7240710 20180130 OMIM 8890664 Slc16a12 solute carrier family 16 member 12 gene DOID:0070353 cataract 47 ISO RGD:1606094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria PMID:17458810|PMID:18304496|PMID:21778275|PMID:24281366|PMID:25741868|PMID:26376857|PMID:26694549|PMID:28492532 8890664 Slc16a12 solute carrier family 16 member 12 gene DOID:12270 coloboma ISO RGD:1606094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coloboma of eye PMID:24281366|PMID:25741868|PMID:28492532 8890664 Slc16a12 solute carrier family 16 member 12 gene DOID:14497 Wolman disease ISO RGD:1606094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 8890664 Slc16a12 solute carrier family 16 member 12 gene DOID:630 genetic disease ISO RGD:1606094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890664 Slc16a12 solute carrier family 16 member 12 gene DOID:83 cataract ISO RGD:1606094 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549 8890675 Sar1a secretion associated Ras related GTPase 1A gene DOID:630 genetic disease ISO RGD:1350460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890694 Rprd1b regulation of nuclear pre-mRNA domain containing 1B gene DOID:2234 focal epilepsy ISO RGD:1312424 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8890694 Rprd1b regulation of nuclear pre-mRNA domain containing 1B gene DOID:630 genetic disease ISO RGD:1312424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890717 Paqr5 progestin and adipoQ receptor family member 5 gene DOID:2717 Bloom syndrome ISO RGD:1606550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8890717 Paqr5 progestin and adipoQ receptor family member 5 gene DOID:630 genetic disease ISO RGD:1606550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890717 Paqr5 progestin and adipoQ receptor family member 5 gene DOID:9256 colorectal cancer ISO RGD:1606550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8890731 Tmem100 transmembrane protein 100 gene DOID:630 genetic disease ISO RGD:1602475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890738 Ttll12 tubulin tyrosine ligase like 12 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8890738 Ttll12 tubulin tyrosine ligase like 12 gene DOID:1059 intellectual disability ISO RGD:1604381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8890738 Ttll12 tubulin tyrosine ligase like 12 gene DOID:630 genetic disease ISO RGD:1604381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890738 Ttll12 tubulin tyrosine ligase like 12 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1604381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8890756 Slc43a1 solute carrier family 43 member 1 gene DOID:1059 intellectual disability ISO RGD:1317883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8890756 Slc43a1 solute carrier family 43 member 1 gene DOID:630 genetic disease ISO RGD:1317883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890774 Opn3 opsin 3 gene DOID:0080600 COVID-19 ISO RGD:1345705 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8890774 Opn3 opsin 3 gene DOID:0111261 fumarase deficiency ISO RGD:1345705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 8890774 Opn3 opsin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1345705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8890774 Opn3 opsin 3 gene DOID:630 genetic disease ISO RGD:1345705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890774 Opn3 opsin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8890774 Opn3 opsin 3 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345705 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 8890774 Opn3 opsin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8890808 Ly96 lymphocyte antigen 96 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1349135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:21147908|PMID:28492532 8890808 Ly96 lymphocyte antigen 96 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1349135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106 8890808 Ly96 lymphocyte antigen 96 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1349135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532 8890808 Ly96 lymphocyte antigen 96 gene DOID:13580 cholestasis ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8890808 Ly96 lymphocyte antigen 96 gene DOID:305 carcinoma ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 8890808 Ly96 lymphocyte antigen 96 gene DOID:630 genetic disease ISO RGD:1349135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890808 Ly96 lymphocyte antigen 96 gene DOID:7148 rheumatoid arthritis ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 8890808 Ly96 lymphocyte antigen 96 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 8890808 Ly96 lymphocyte antigen 96 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8890808 Ly96 lymphocyte antigen 96 gene DOID:9003321 Bacterial Keratitis ISO RGD:1623303 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 8890808 Ly96 lymphocyte antigen 96 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1349135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 8890822 Eln elastin gene DOID:0002116 pterygium ISO RGD:736469 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva: PMID:11021831|REF_RGD_ID:9585733 8890822 Eln elastin gene DOID:0050651 atrioventricular septal defect ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AVC DEFECT PMID:25741868|PMID:28492532 8890822 Eln elastin gene DOID:0050922 gastrointestinal carcinoma ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastrointestinal carcinoma PMID:25741868|PMID:28492532 8890822 Eln elastin gene DOID:0060041 autism spectrum disorder ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8890822 Eln elastin gene DOID:0060320 inguinal hernia ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868|PMID:28492532 8890822 Eln elastin gene DOID:0070130 autosomal dominant cutis laxa 1 ISO RGD:736469 D RGD:7240710 20180418 OMIM 8890822 Eln elastin gene DOID:0070130 autosomal dominant cutis laxa 1 ISO RGD:736469 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 PMID:10942104|PMID:11175284|PMID:12555228|PMID:15955094|PMID:16085695|PMID:16199547|PMID:17576681|PMID:18348261|PMID:19029017|PMID:19282817|PMID:19593948|PMID:19844261|PMID:20600892|PMID:21309044|PMID:23049958|PMID:23401415|PMID:24033266|PMID:25741868|PMID:26483232|PMID:28391405|PMID:28492532|PMID:29501665|PMID:29555671|PMID:29907982|PMID:31577255|PMID:31589614|PMID:5046633|PMID:7884000|PMID:8091333|PMID:9215670|PMID:9215671|PMID:9536098|PMID:9580666|PMID:9873040 8890822 Eln elastin gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant PMID:11175284|PMID:12555228|PMID:16894468|PMID:19029017|PMID:24033266|PMID:25741868|PMID:28492532 8890822 Eln elastin gene DOID:0080745 polymyositis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:12643515|REF_RGD_ID:9585739 8890822 Eln elastin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:67394 D RGD:9068941 20200609 RGD PMID:21478483|REF_RGD_ID:7207865 8890822 Eln elastin gene DOID:0111536 Buschke-Ollendorff syndrome ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:1629625|REF_RGD_ID:9585749 8890822 Eln elastin gene DOID:10325 silicosis ISO RGD:67394 D RGD:9068941 20200609 RGD protein:increased expression:lung connective tissue: PMID:7573374|REF_RGD_ID:9585691 8890822 Eln elastin gene DOID:1070 primary open angle glaucoma ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:1526740|REF_RGD_ID:9585735 8890822 Eln elastin gene DOID:10763 hypertension ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17039479 8890822 Eln elastin gene DOID:10825 essential hypertension ISO RGD:733666 D RGD:9068941 20220825 MouseDO OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014 8890822 Eln elastin gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:SNPintron: rs2301995(human) PMID:22065928|REF_RGD_ID:7387224 8890822 Eln elastin gene DOID:10873 Kuhnt-Junius degeneration no_association ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:18326737|REF_RGD_ID:9585729 8890822 Eln elastin gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 8890822 Eln elastin gene DOID:12849 autistic disorder ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8890822 Eln elastin gene DOID:12918 thromboangiitis obliterans ISO RGD:736469 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:8763587|REF_RGD_ID:9585753 8890822 Eln elastin gene DOID:13375 temporal arteritis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:9101501|REF_RGD_ID:9585754 8890822 Eln elastin gene DOID:13378 Kawasaki disease ISO RGD:733666 D RGD:9068941 20200609 RGD PMID:21356372|REF_RGD_ID:9585741 8890822 Eln elastin gene DOID:13641 exfoliation syndrome ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:7777294|REF_RGD_ID:9585736 8890822 Eln elastin gene DOID:13948 bladder neck obstruction treatment ISO RGD:67394 D RGD:9068941 20200609 RGD PMID:23313213|REF_RGD_ID:7257549 8890822 Eln elastin gene DOID:14004 thoracic aortic aneurysm ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11175284|PMID:16199547|PMID:25741868|PMID:28492532 8890822 Eln elastin gene DOID:14004 thoracic aortic aneurysm ISO RGD:736469 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11175284|PMID:16199547|PMID:25741868|PMID:28492532|PMID:30029678 8890822 Eln elastin gene DOID:1712 aortic valve stenosis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:11175284|REF_RGD_ID:1580327 8890822 Eln elastin gene DOID:1909 melanoma disease_progression ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:11979070|REF_RGD_ID:9585752 8890822 Eln elastin gene DOID:1909 melanoma disease_progression ISO RGD:736469 D RGD:9068941 20200609 RGD associated with Nevus, Pigmented; PMID:19032378|REF_RGD_ID:9585768 8890822 Eln elastin gene DOID:1928 Williams-Beuren syndrome ISO RGD:736469 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210 8890822 Eln elastin gene DOID:1929 supravalvular aortic stenosis ISO RGD:736469 D RGD:7240710 20180130 OMIM 8890822 Eln elastin gene DOID:1929 supravalvular aortic stenosis ISO RGD:736469 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ELN-related condition | ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10190324|PMID:10190538|PMID:10627943|PMID:10942104|PMID:11175284|PMID:12555228|PMID:16085695|PMID:16199547|PMID:16374472|PMID:16894468|PMID:17037986|PMID:17576681|PMID:18348261|PMID:19029017|PMID:19282817|PMID:19593948|PMID:19844261|PMID:20600892|PMID:21309044|PMID:22740173|PMID:23049958|PMID:23401415|PMID:23442826|PMID:24033266|PMID:25205790|PMID:25741868|PMID:26014430|PMID:26483232|PMID:27866049|PMID:28166811|PMID:28277377|PMID:28391405|PMID:28492532|PMID:29332214|PMID:29501665|PMID:29555671|PMID:29907982|PMID:30029678|PMID:30228022|PMID:31577255|PMID:31589614|PMID:31829210|PMID:34422331|PMID:7557968|PMID:7611295|PMID:7726172|PMID:7884000|PMID:8132745|PMID:8362925|PMID:8364568|PMID:8541862|PMID:8968740|PMID:9215670|PMID:9215671|PMID:9536098|PMID:9580666|PMID:9873040 8890822 Eln elastin gene DOID:2738 pseudoxanthoma elasticum ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:1936214|PMID:7524808|REF_RGD_ID:9585748|REF_RGD_ID:9585763 8890822 Eln elastin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 8890822 Eln elastin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:16081882|REF_RGD_ID:1580326 8890822 Eln elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189163 8890822 Eln elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:15381555|PMID:2745999|REF_RGD_ID:1580330|REF_RGD_ID:9585732 8890822 Eln elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:deletion mutations:cds: PMID:23442826|REF_RGD_ID:9585761 8890822 Eln elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:deletions:exon:2012del,2039del(human) PMID:9873040|REF_RGD_ID:9585738 8890822 Eln elastin gene DOID:3144 cutis laxa ISO RGD:736469 D RGD:9068941 20200609 RGD associated with lung diseases; DNA:duplication: : PMID:15955094|REF_RGD_ID:9585740 8890822 Eln elastin gene DOID:3159 photosensitivity disease ISO RGD:736469 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:18753059|REF_RGD_ID:9585765 8890822 Eln elastin gene DOID:3627 aortic aneurysm ISO RGD:736469 D RGD:9068941 20200609 RGD associated with Cutis Laxa; PMID:16085695|REF_RGD_ID:9585744 8890822 Eln elastin gene DOID:3770 pulmonary fibrosis ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10761639|PMID:26817844 8890822 Eln elastin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:67394 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung: PMID:12194112|REF_RGD_ID:9585688 8890822 Eln elastin gene DOID:418 systemic scleroderma ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:22563211|REF_RGD_ID:9585742 8890822 Eln elastin gene DOID:4448 macular degeneration ISO RGD:736469 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:16123400|REF_RGD_ID:9585737 8890822 Eln elastin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8890822 Eln elastin gene DOID:5082 liver cirrhosis severity ISO RGD:67394 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:22223197|REF_RGD_ID:9585666 8890822 Eln elastin gene DOID:5419 schizophrenia ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8890822 Eln elastin gene DOID:62 aortic valve disease ISO RGD:733666 D RGD:9068941 20220825 MouseDO 8890822 Eln elastin gene DOID:630 genetic disease ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10190324|PMID:10190538|PMID:10942104|PMID:11175284|PMID:17037986|PMID:17576681|PMID:19844261|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29501665|PMID:31577255|PMID:34422331|PMID:9215670|PMID:9215671|PMID:9536098 8890822 Eln elastin gene DOID:7148 rheumatoid arthritis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:12643515|REF_RGD_ID:9585739 8890822 Eln elastin gene DOID:7693 abdominal aortic aneurysm ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:15944607|REF_RGD_ID:1580157 8890822 Eln elastin gene DOID:7693 abdominal aortic aneurysm treatment ISO RGD:67394 D RGD:9068941 20200609 RGD PMID:18585885|REF_RGD_ID:9585668 8890822 Eln elastin gene DOID:799 varicose veins ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Varicose veins PMID:25741868|PMID:28492532 8890822 Eln elastin gene DOID:8445 intestinal volvulus ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8890822 Eln elastin gene DOID:8505 dermatitis herpetiformis ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:8256113|REF_RGD_ID:9585750 8890822 Eln elastin gene DOID:8893 psoriasis treatment ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:6893335|REF_RGD_ID:9585764 8890822 Eln elastin gene DOID:8947 diabetic retinopathy ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:11707314|REF_RGD_ID:9585734 8890822 Eln elastin gene DOID:9001330 Urinary Incontinence, Stress ISO RGD:67394 D RGD:9068941 20200609 RGD PMID:19878076|REF_RGD_ID:7207866 8890822 Eln elastin gene DOID:9001831 Lichen Sclerosus et Atrophicus ISO RGD:736469 D RGD:9068941 20200609 RGD protein:altered expression:vulva: PMID:11683283|REF_RGD_ID:9585756 8890822 Eln elastin gene DOID:9002377 Supravalvar Aortic Stenosis, Eisenberg Type ISO RGD:736469 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis, Eisenberg type PMID:11175284|PMID:16199547|PMID:25741868|PMID:28492532|PMID:30029678 8890822 Eln elastin gene DOID:9003133 Hypertelorism ISO RGD:736469 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11175284|PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29555671|PMID:29907982|PMID:31589614 8890822 Eln elastin gene DOID:9003386 Sunburn ISO RGD:736469 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:8040608|REF_RGD_ID:9585745 8890822 Eln elastin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8890822 Eln elastin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:67394 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder: PMID:18279932|REF_RGD_ID:9585725 8890822 Eln elastin gene DOID:9006392 Anetoderma ISO RGD:736469 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:6736354|REF_RGD_ID:9585766 8890822 Eln elastin gene DOID:9007096 Stroke ISO RGD:736469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 8890822 Eln elastin gene DOID:9007102 Myocardial Ischemia ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8890822 Eln elastin gene DOID:9008419 Volvulus Of Midgut ISO RGD:736469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8890822 Eln elastin gene DOID:9008537 Polypoidal Choroidal Vasculopathy no_association ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:SNP: :rs2301995(human) PMID:21391811|REF_RGD_ID:9585730 8890822 Eln elastin gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:736469 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs2301995(human) PMID:18326737|REF_RGD_ID:9585729 8890822 Eln elastin gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10359170 8890822 Eln elastin gene DOID:9074 systemic lupus erythematosus ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:12643515|REF_RGD_ID:9585739 8890822 Eln elastin gene DOID:9675 pulmonary emphysema ISO RGD:736469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25106431 8890822 Eln elastin gene DOID:9810 polyarteritis nodosa ISO RGD:736469 D RGD:9068941 20200609 RGD PMID:12643515|REF_RGD_ID:9585739 8890868 Nfkbie NFKB inhibitor epsilon gene DOID:1909 melanoma ISO RGD:1352834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26343386 8890868 Nfkbie NFKB inhibitor epsilon gene DOID:630 genetic disease ISO RGD:1352834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890868 Nfkbie NFKB inhibitor epsilon gene DOID:7148 rheumatoid arthritis ISO RGD:1352834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 8890868 Nfkbie NFKB inhibitor epsilon gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8890917 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8890917 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8890917 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1347463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8890917 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8890917 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:5812 MHC class II deficiency ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8890917 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:630 genetic disease ISO RGD:1347463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890917 Oaz3 ornithine decarboxylase antizyme 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8890926 Col19a1 collagen type XIX alpha 1 chain gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:1318965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF PMID:19136951|PMID:21303734|PMID:28492532 8890926 Col19a1 collagen type XIX alpha 1 chain gene DOID:14330 Parkinson's disease ISO RGD:1318965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 8890926 Col19a1 collagen type XIX alpha 1 chain gene DOID:630 genetic disease ISO RGD:1318965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890981 Tnrc6a trinucleotide repeat containing adaptor 6A gene DOID:0111696 familial adult myoclonic epilepsy 6 ISO RGD:1607049 D RGD:7240710 20190315 OMIM 8890981 Tnrc6a trinucleotide repeat containing adaptor 6A gene DOID:0111696 familial adult myoclonic epilepsy 6 ISO RGD:1607049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 PMID:25741868|PMID:28492532 8890981 Tnrc6a trinucleotide repeat containing adaptor 6A gene DOID:630 genetic disease ISO RGD:1607049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8890981 Tnrc6a trinucleotide repeat containing adaptor 6A gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1607049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507423 8891018 Sdr39u1 short chain dehydrogenase/reductase family 39U member 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319586 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8891018 Sdr39u1 short chain dehydrogenase/reductase family 39U member 1 gene DOID:630 genetic disease ISO RGD:1319586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891018 Sdr39u1 short chain dehydrogenase/reductase family 39U member 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319586 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8891018 Sdr39u1 short chain dehydrogenase/reductase family 39U member 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319586 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8891028 Slc7a3 solute carrier family 7 member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8891028 Slc7a3 solute carrier family 7 member 3 gene DOID:1059 intellectual disability ISO RGD:733970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 8891028 Slc7a3 solute carrier family 7 member 3 gene DOID:12849 autistic disorder ISO RGD:733970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8891028 Slc7a3 solute carrier family 7 member 3 gene DOID:630 genetic disease ISO RGD:733970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891028 Slc7a3 solute carrier family 7 member 3 gene DOID:9007898 FG Syndrome 1 ISO RGD:733970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 8891048 Lxn latexin gene DOID:1909 melanoma ISO RGD:737325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 8891048 Lxn latexin gene DOID:630 genetic disease ISO RGD:737325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891048 Lxn latexin gene DOID:9003882 Chromosomal Instability ISO RGD:737325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25341047 8891058 Spata19 spermatogenesis associated 19 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8891058 Spata19 spermatogenesis associated 19 gene DOID:5419 schizophrenia ISO RGD:1606425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8891058 Spata19 spermatogenesis associated 19 gene DOID:630 genetic disease ISO RGD:1606425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891058 Spata19 spermatogenesis associated 19 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8891070 Ankrd16 ankyrin repeat domain 16 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8891070 Ankrd16 ankyrin repeat domain 16 gene DOID:5419 schizophrenia ISO RGD:1322851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8891070 Ankrd16 ankyrin repeat domain 16 gene DOID:630 genetic disease ISO RGD:1322851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891083 Lctl lactase like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8891083 Lctl lactase like gene DOID:2717 Bloom syndrome ISO RGD:1602287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8891083 Lctl lactase like gene DOID:630 genetic disease ISO RGD:1602287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891083 Lctl lactase like gene DOID:9256 colorectal cancer ISO RGD:1602287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8891108 Nagk N-acetylglucosamine kinase gene DOID:543 dystonia ISO RGD:1312859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8891108 Nagk N-acetylglucosamine kinase gene DOID:630 genetic disease ISO RGD:1312859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891108 Nagk N-acetylglucosamine kinase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8891108 Nagk N-acetylglucosamine kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 8891108 Nagk N-acetylglucosamine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8891108 Nagk N-acetylglucosamine kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8891127 Txndc11 thioredoxin domain containing 11 gene DOID:5419 schizophrenia ISO RGD:1348266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8891127 Txndc11 thioredoxin domain containing 11 gene DOID:630 genetic disease ISO RGD:1348266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891144 Mrtfa myocardin related transcription factor A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1312564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8891144 Mrtfa myocardin related transcription factor A gene DOID:0111998 immunodeficiency 66 ISO RGD:1312564 D RGD:7240710 20200429 OMIM 8891144 Mrtfa myocardin related transcription factor A gene DOID:0111998 immunodeficiency 66 ISO RGD:1312564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 66 PMID:25741868|PMID:26224645|PMID:27479822|PMID:28492532 8891144 Mrtfa myocardin related transcription factor A gene DOID:630 genetic disease ISO RGD:1312564 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8891144 Mrtfa myocardin related transcription factor A gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1312564 D RGD:9068941 20200609 RGD PMID:11431691|REF_RGD_ID:1599948 8891162 Dok1 docking protein 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1319871 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8891162 Dok1 docking protein 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1319872 D RGD:9068941 20220519 RGD PMID:20139980|REF_RGD_ID:152177521 8891162 Dok1 docking protein 1 gene DOID:543 dystonia ISO RGD:1319871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8891162 Dok1 docking protein 1 gene DOID:630 genetic disease ISO RGD:1319871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8891162 Dok1 docking protein 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1319871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8891162 Dok1 docking protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319871 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21856257 8891162 Dok1 docking protein 1 gene DOID:9004584 Myopia 28 ISO RGD:1319871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 28, autosomal recessive PMID:26957899|PMID:28492532 8891162 Dok1 docking protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1319871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20139980 8891171 Bpifa3 BPI fold containing family A member 3 gene DOID:630 genetic disease ISO RGD:1347929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891192 Sptbn1 spectrin beta, non-erythrocytic 1 gene DOID:0060040 pervasive developmental disorder ISO RGD:1351608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pervasive developmental disorder PMID:25741868 8891192 Sptbn1 spectrin beta, non-erythrocytic 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1551425 D RGD:9068941 20220825 MouseDO OMIM:130650 8891192 Sptbn1 spectrin beta, non-erythrocytic 1 gene DOID:630 genetic disease ISO RGD:1351608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891192 Sptbn1 spectrin beta, non-erythrocytic 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1551425 D RGD:9068941 20200609 RGD PMID:16650383|REF_RGD_ID:1581318 8891192 Sptbn1 spectrin beta, non-erythrocytic 1 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:1351608 D RGD:7240710 20211020 OMIM 8891192 Sptbn1 spectrin beta, non-erythrocytic 1 gene DOID:9000526 DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:1351608 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities | ClinVar Annotator: match by term: SPTBN1-related condition PMID:25741868|PMID:33847457|PMID:34211179 8891192 Sptbn1 spectrin beta, non-erythrocytic 1 gene DOID:9002589 Bone Fractures ISO RGD:1351608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 8891192 Sptbn1 spectrin beta, non-erythrocytic 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351608 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33847457|PMID:34211179 8891192 Sptbn1 spectrin beta, non-erythrocytic 1 gene DOID:9004657 Weight Gain ISO RGD:1351608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8891192 Sptbn1 spectrin beta, non-erythrocytic 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1351608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:25741868 8891192 Sptbn1 spectrin beta, non-erythrocytic 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1551425 D RGD:9068941 20200609 RGD PMID:12543979|REF_RGD_ID:1581319 8891192 Sptbn1 spectrin beta, non-erythrocytic 1 gene DOID:9008582 Developmental Disease ISO RGD:1351608 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8891245 Tnfsf14 TNF superfamily member 14 gene DOID:0080490 mucolipidosis type IV ISO RGD:1352930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8891245 Tnfsf14 TNF superfamily member 14 gene DOID:2377 multiple sclerosis ISO RGD:1352930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 8891245 Tnfsf14 TNF superfamily member 14 gene DOID:630 genetic disease ISO RGD:1352930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891245 Tnfsf14 TNF superfamily member 14 gene DOID:7148 rheumatoid arthritis ISO RGD:1352930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 8891255 Apoa2 apolipoprotein A2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8891255 Apoa2 apolipoprotein A2 gene DOID:13809 familial combined hyperlipidemia ISO RGD:737360 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:12738753|REF_RGD_ID:1300287 8891255 Apoa2 apolipoprotein A2 gene DOID:13810 familial hypercholesterolemia ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:12522687 8891255 Apoa2 apolipoprotein A2 gene DOID:1540 parathyroid carcinoma ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8891255 Apoa2 apolipoprotein A2 gene DOID:3393 coronary artery disease ISO RGD:737360 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17923573|REF_RGD_ID:2313956 8891255 Apoa2 apolipoprotein A2 gene DOID:630 genetic disease ISO RGD:737360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891255 Apoa2 apolipoprotein A2 gene DOID:684 hepatocellular carcinoma ISO RGD:737360 D RGD:9068941 20220908 RGD associated with hepatitis B; mRNA:increased expression:liver PMID:31211449|REF_RGD_ID:153350082 8891255 Apoa2 apolipoprotein A2 gene DOID:7998 hyperthyroidism ISO RGD:2131 D RGD:9068941 20200609 RGD PMID:1466661|REF_RGD_ID:1599158 8891255 Apoa2 apolipoprotein A2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737360 D RGD:9068941 20200609 RGD PMID:9829487|REF_RGD_ID:2313960 8891255 Apoa2 apolipoprotein A2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737360 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum PMID:11126402|REF_RGD_ID:2313958 8891255 Apoa2 apolipoprotein A2 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:737360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12522687 8891255 Apoa2 apolipoprotein A2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:737360 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:9489233|REF_RGD_ID:1601190 8891255 Apoa2 apolipoprotein A2 gene DOID:9006646 Metabolic Syndrome ISO RGD:737360 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19817643|REF_RGD_ID:2313955 8891255 Apoa2 apolipoprotein A2 gene DOID:9006700 APOLIPOPROTEIN A-II DEFICIENCY ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Apolipoprotein A-II deficiency 8891255 Apoa2 apolipoprotein A2 gene DOID:9007692 Insulin Resistance ISO RGD:732677 D RGD:9068941 20200609 RGD PMID:11246886|REF_RGD_ID:2313957 8891255 Apoa2 apolipoprotein A2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8891255 Apoa2 apolipoprotein A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737360 D RGD:9068941 20200609 RGD protein:altered localization:plasma lipoprotein particle PMID:9649952|REF_RGD_ID:2313961 8891255 Apoa2 apolipoprotein A2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737360 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19817643|REF_RGD_ID:2313955 8891255 Apoa2 apolipoprotein A2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737360 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:9578960|REF_RGD_ID:2313962 8891255 Apoa2 apolipoprotein A2 gene DOID:9970 obesity ISO RGD:732677 D RGD:9068941 20200609 RGD PMID:9933608|REF_RGD_ID:2313959 8891255 Apoa2 apolipoprotein A2 gene DOID:9970 obesity ISO RGD:737360 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9002300|REF_RGD_ID:1601191 8891266 Zdhhc24 zinc finger DHHC-type containing 24 gene DOID:0050439 Usher syndrome ISO RGD:1602172 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21642631|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864|PMID:36909829 8891266 Zdhhc24 zinc finger DHHC-type containing 24 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1602172 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:10564830|PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16582908|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:19858128|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25741868|PMID:25982971|PMID:25988237|PMID:26467025|PMID:26518167|PMID:26566502|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27894351|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30484961|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31213501|PMID:31836858|PMID:32165824|PMID:32349990|PMID:32451492|PMID:32531858|PMID:32552793|PMID:33532864|PMID:33594065|PMID:34526762|PMID:34906470|PMID:34940782|PMID:35692835|PMID:35886001|PMID:36460718|PMID:36909829|PMID:9536098 8891266 Zdhhc24 zinc finger DHHC-type containing 24 gene DOID:10584 retinitis pigmentosa ISO RGD:1602172 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21517826|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864 8891266 Zdhhc24 zinc finger DHHC-type containing 24 gene DOID:10584 retinitis pigmentosa ISO RGD:1602172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34526762|PMID:9536098 8891266 Zdhhc24 zinc finger DHHC-type containing 24 gene DOID:10584 retinitis pigmentosa ISO RGD:1602172 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34526762|PMID:34906470|PMID:36909829|PMID:9536098 8891266 Zdhhc24 zinc finger DHHC-type containing 24 gene DOID:1059 intellectual disability ISO RGD:1602172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8891266 Zdhhc24 zinc finger DHHC-type containing 24 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602172 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10564830|PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:19858128|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25741868|PMID:25982971|PMID:25988237|PMID:26082521|PMID:26467025|PMID:26518167|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27486776|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27894351|PMID:28041643|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28991257|PMID:29099798|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31328266|PMID:31506453|PMID:31836858|PMID:32165824|PMID:32349990|PMID:32451492|PMID:32531858|PMID:32552793|PMID:33532864|PMID:33594065|PMID:34526762|PMID:34906470|PMID:35692835|PMID:35835773|PMID:35886001|PMID:36819107|PMID:36909829|PMID:9536098 8891266 Zdhhc24 zinc finger DHHC-type containing 24 gene DOID:630 genetic disease ISO RGD:1602172 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25074776|PMID:25326635|PMID:25741868|PMID:25988237|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:32349990|PMID:33532864|PMID:33594065|PMID:34526762|PMID:34906470|PMID:35692835|PMID:36909829|PMID:9536098 8891266 Zdhhc24 zinc finger DHHC-type containing 24 gene DOID:8501 fundus dystrophy ISO RGD:1602172 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:16199547|PMID:17065520|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20472660|PMID:20498079|PMID:21052717|PMID:21520335|PMID:21642631|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34940782|PMID:36909829 8891266 Zdhhc24 zinc finger DHHC-type containing 24 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602172 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8891266 Zdhhc24 zinc finger DHHC-type containing 24 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8891276 Gemin5 gem nuclear organelle associated protein 5 gene DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction ISO RGD:1321352 D RGD:7240710 20210818 OMIM 8891276 Gemin5 gem nuclear organelle associated protein 5 gene DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction ISO RGD:1321352 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction PMID:25741868|PMID:28492532|PMID:33963192 8891276 Gemin5 gem nuclear organelle associated protein 5 gene DOID:4990 essential tremor ISO RGD:1321352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 8891276 Gemin5 gem nuclear organelle associated protein 5 gene DOID:630 genetic disease ISO RGD:1321352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33963192|PMID:35295849 8891322 Snx11 sorting nexin 11 gene DOID:630 genetic disease ISO RGD:1316444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891333 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8891333 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:0080240 non-syndromic X-linked intellectual disability 106 ISO RGD:736466 D RGD:7240710 20190315 OMIM 8891333 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:0080240 non-syndromic X-linked intellectual disability 106 ISO RGD:736466 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 106 | ClinVar Annotator: match by term: Mental retardation, X-linked 106 PMID:12724313|PMID:18818698|PMID:21240259|PMID:24033266|PMID:25679214|PMID:25741868|PMID:26273451|PMID:27056667|PMID:28302723|PMID:28492532|PMID:28584052|PMID:29769320|PMID:31627256|PMID:9083067 8891333 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:12849 autistic disorder ISO RGD:736466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8891333 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:1712 aortic valve stenosis ISO RGD:736466 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (human) PMID:22128088|REF_RGD_ID:9590202 8891333 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:6000 congestive heart failure ISO RGD:62060 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:22128088|REF_RGD_ID:9590202 8891333 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:630 genetic disease ISO RGD:736466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12724313|PMID:21240259|PMID:25741868|PMID:28492532|PMID:29769320|PMID:9083067 8891333 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:9003936 Cardiomegaly ISO RGD:62060 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:22128088|REF_RGD_ID:9590202 8891333 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:62060 D RGD:9068941 20200609 RGD PMID:15561949|REF_RGD_ID:9590198 8891333 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase gene DOID:9008939 Breast Neoplasms severity ISO RGD:62352 D RGD:9068941 20200609 RGD PMID:24214978|REF_RGD_ID:9590192 8891369 Lamb2 laminin subunit beta 2 gene DOID:0060852 Pierson syndrome ISO RGD:733412 D RGD:7240710 20180130 OMIM 8891369 Lamb2 laminin subunit beta 2 gene DOID:0060852 Pierson syndrome ISO RGD:733412 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Pierson syndrome PMID:14136829|PMID:15367484|PMID:15372515|PMID:16097004|PMID:16199547|PMID:16898484|PMID:16912710|PMID:17256789|PMID:17576681|PMID:18594871|PMID:18672223|PMID:19251977|PMID:20507940|PMID:20556798|PMID:21236492|PMID:21763483|PMID:21910237|PMID:2206901|PMID:23349334|PMID:23595123|PMID:24033266|PMID:25349199|PMID:25741868|PMID:26108971|PMID:26239645|PMID:26248470|PMID:26467025|PMID:26467726|PMID:27004562|PMID:27858192|PMID:28188379|PMID:28476686|PMID:28492532|PMID:28780565|PMID:29127259|PMID:30013592|PMID:30295827|PMID:31959872|PMID:32295525|PMID:32860008|PMID:33749661|PMID:9536098 8891369 Lamb2 laminin subunit beta 2 gene DOID:0060852 Pierson syndrome ISO RGD:733412 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Pierson syndrome PMID:14136829|PMID:15367484|PMID:15372515|PMID:16097004|PMID:16199547|PMID:16898484|PMID:16912710|PMID:17256789|PMID:17576681|PMID:18594871|PMID:18672223|PMID:19251977|PMID:20507940|PMID:20556798|PMID:21236492|PMID:21763483|PMID:21910237|PMID:2206901|PMID:23349334|PMID:23595123|PMID:24033266|PMID:25349199|PMID:25741868|PMID:26108971|PMID:26239645|PMID:26248470|PMID:26467025|PMID:26467726|PMID:27004562|PMID:27858192|PMID:28188379|PMID:28476686|PMID:28492532|PMID:28780565|PMID:29127259|PMID:30013592|PMID:30295827|PMID:31831576|PMID:31959872|PMID:32295525|PMID:32860008|PMID:33749661|PMID:9536098 8891369 Lamb2 laminin subunit beta 2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 8891369 Lamb2 laminin subunit beta 2 gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:733412 D RGD:7240710 20180130 OMIM 8891369 Lamb2 laminin subunit beta 2 gene DOID:0080380 nephrotic syndrome type 5 ISO RGD:733412 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities | ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities PMID:14136829|PMID:15367484|PMID:16097004|PMID:16199547|PMID:16912710|PMID:17256789|PMID:17576681|PMID:18594871|PMID:18672223|PMID:19251977|PMID:20556798|PMID:21236492|PMID:21763483|PMID:2206901|PMID:23349334|PMID:23595123|PMID:25741868|PMID:26239645|PMID:26248470|PMID:26467025|PMID:26467726|PMID:27858192|PMID:28492532|PMID:28780565|PMID:29127259|PMID:30295827|PMID:7885444|PMID:9536098 8891369 Lamb2 laminin subunit beta 2 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:20556798|PMID:25741868|PMID:26467025|PMID:28492532 8891369 Lamb2 laminin subunit beta 2 gene DOID:1070 primary open angle glaucoma ISO RGD:733412 D RGD:9068941 20231026 RGD DNA:SNP:CDS:E987K, rs34759087 (human) PMID:34143713|REF_RGD_ID:401851036 8891369 Lamb2 laminin subunit beta 2 gene DOID:1184 nephrotic syndrome ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:15367484|PMID:17576681|PMID:18672223|PMID:2206901|PMID:25741868|PMID:28492532|PMID:29127259|PMID:30295827|PMID:33749661|PMID:9536098 8891369 Lamb2 laminin subunit beta 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:733412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:20556798|PMID:25741868|PMID:26467025|PMID:28492532 8891369 Lamb2 laminin subunit beta 2 gene DOID:1561 cognitive disorder ISO RGD:733412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30226399 8891369 Lamb2 laminin subunit beta 2 gene DOID:2527 nephrosis ISO RGD:10854 D RGD:9068941 20220825 MouseDO 8891369 Lamb2 laminin subunit beta 2 gene DOID:2921 glomerulonephritis ISO RGD:733412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868|PMID:28492532 8891369 Lamb2 laminin subunit beta 2 gene DOID:557 kidney disease ISO RGD:733412 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17576681|PMID:18594871|PMID:20556798|PMID:21763483|PMID:23349334|PMID:25741868|PMID:26239645|PMID:26248470|PMID:26467025|PMID:27858192|PMID:28492532|PMID:9536098 8891369 Lamb2 laminin subunit beta 2 gene DOID:576 proteinuria ISO RGD:2988 D RGD:9068941 20200609 RGD PMID:21511833|REF_RGD_ID:7207433 8891369 Lamb2 laminin subunit beta 2 gene DOID:630 genetic disease ISO RGD:733412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8891369 Lamb2 laminin subunit beta 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:733412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8891369 Lamb2 laminin subunit beta 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2988 D RGD:9068941 20200609 RGD PMID:19864299|REF_RGD_ID:7207449 8891369 Lamb2 laminin subunit beta 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8891369 Lamb2 laminin subunit beta 2 gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:733412 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diffuse mesangial sclerosis PMID:25741868|PMID:28492532 8891406 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090020 split hand-foot malformation ISO RGD:1601997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SPLIT-HAND DEFORMITY PMID:26755636 8891406 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:1601997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split-hand/foot malformation 1 PMID:26755636 8891406 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1601997 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8891406 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion ISO RGD:1601997 D RGD:7240710 20190315 OMIM 8891406 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion ISO RGD:1601997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 6, with fiber-type disproportion PMID:16760198|PMID:25741868|PMID:27816943|PMID:28492532 8891406 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:630 genetic disease ISO RGD:1601997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8891406 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:9008338 Split-Foot Malformation with Mesoaxial Polydactyly ISO RGD:1601997 D RGD:7240710 20190315 OMIM 8891406 Map3k20 mitogen-activated protein kinase kinase kinase 20 gene DOID:9008338 Split-Foot Malformation with Mesoaxial Polydactyly ISO RGD:1601997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly PMID:25741868|PMID:26755636|PMID:28492532 8891427 Rps9 ribosomal protein S9 gene DOID:630 genetic disease ISO RGD:734165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891427 Rps9 ribosomal protein S9 gene DOID:9007874 Liver Failure ISO RGD:619889 D RGD:9068941 20200609 RGD PMID:501300|REF_RGD_ID:11040911 8891437 Shkbp1 SH3KBP1 binding protein 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8891437 Shkbp1 SH3KBP1 binding protein 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8891437 Shkbp1 SH3KBP1 binding protein 1 gene DOID:2340 craniosynostosis ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8891437 Shkbp1 SH3KBP1 binding protein 1 gene DOID:630 genetic disease ISO RGD:1352927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891437 Shkbp1 SH3KBP1 binding protein 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8891437 Shkbp1 SH3KBP1 binding protein 1 gene DOID:9269 maple syrup urine disease ISO RGD:1352927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8891468 Rsl24d1 ribosomal L24 domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1320309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8891468 Rsl24d1 ribosomal L24 domain containing 1 gene DOID:630 genetic disease ISO RGD:1320309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891468 Rsl24d1 ribosomal L24 domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1320309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8891478 Rars1 arginyl-tRNA synthetase 1 gene DOID:0060791 hypomyelinating leukodystrophy 9 ISO RGD:1319432 D RGD:7240710 20180130 OMIM 8891478 Rars1 arginyl-tRNA synthetase 1 gene DOID:0060791 hypomyelinating leukodystrophy 9 ISO RGD:1319432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 9 PMID:24777941|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28905880|PMID:30791064|PMID:31737794|PMID:31814314|PMID:33515434 8891478 Rars1 arginyl-tRNA synthetase 1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1319432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 8891478 Rars1 arginyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1319432 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8891497 Rtn2 reticulon 2 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1351891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 8891497 Rtn2 reticulon 2 gene DOID:0110765 hereditary spastic paraplegia 12 ISO RGD:1351891 D RGD:7240710 20180130 OMIM 8891497 Rtn2 reticulon 2 gene DOID:0110765 hereditary spastic paraplegia 12 ISO RGD:1351891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 PMID:10677333|PMID:12427890|PMID:22232211|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532 8891497 Rtn2 reticulon 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351891 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 8891497 Rtn2 reticulon 2 gene DOID:607 paraplegia ISO RGD:1351891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:22232211|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28166811|PMID:28492532|PMID:9536098 8891497 Rtn2 reticulon 2 gene DOID:630 genetic disease ISO RGD:1351891 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8891514 Coq8a coenzyme Q8A gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type PMID:25741868|PMID:26467025|PMID:28492532 8891514 Coq8a coenzyme Q8A gene DOID:0050753 cerebellar ataxia ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065 8891514 Coq8a coenzyme Q8A gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1343862 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223 8891514 Coq8a coenzyme Q8A gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 PMID:24033266 8891514 Coq8a coenzyme Q8A gene DOID:0070241 primary coenzyme Q10 deficiency 4 ISO RGD:1343862 D RGD:7240710 20180130 OMIM 8891514 Coq8a coenzyme Q8A gene DOID:0070241 primary coenzyme Q10 deficiency 4 ISO RGD:1343862 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9 PMID:12682339|PMID:15326254|PMID:16199547|PMID:17576681|PMID:18319072|PMID:18319074|PMID:18414213|PMID:19440741|PMID:20495179|PMID:20580948|PMID:21873089|PMID:22036850|PMID:24033266|PMID:24048965|PMID:24164873|PMID:24218524|PMID:25131622|PMID:25280894|PMID:25356970|PMID:25498144|PMID:25525159|PMID:25558065|PMID:25741868|PMID:26467025|PMID:26640698|PMID:26757139|PMID:27106809|PMID:27142713|PMID:27848944|PMID:28492532|PMID:29159460|PMID:29255295|PMID:29482223|PMID:29915382|PMID:30548255|PMID:30637285|PMID:30850373|PMID:30968303|PMID:31589614|PMID:31621627|PMID:31890231|PMID:32337771|PMID:32637629|PMID:32685350|PMID:32743982|PMID:32771712|PMID:32830305|PMID:32961396|PMID:33098801|PMID:33622667|PMID:33949708|PMID:34445196|PMID:34663476|PMID:34712575|PMID:9536098 8891514 Coq8a coenzyme Q8A gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:18319074|PMID:24033266|PMID:25741868|PMID:28492532 8891514 Coq8a coenzyme Q8A gene DOID:1540 parathyroid carcinoma ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8891514 Coq8a coenzyme Q8A gene DOID:630 genetic disease ISO RGD:1343862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25131622|PMID:25280894|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29255295|PMID:29915382|PMID:30637285|PMID:30850373|PMID:30968303|PMID:31621627|PMID:31890231|PMID:32337771|PMID:32685350|PMID:32771712|PMID:9536098 8891514 Coq8a coenzyme Q8A gene DOID:700 mitochondrial metabolism disease ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25131622|PMID:25741868|PMID:28492532|PMID:32337771|PMID:32685350 8891514 Coq8a coenzyme Q8A gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1343862 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223 8891514 Coq8a coenzyme Q8A gene DOID:9006534 Nervous System Malformations ISO RGD:1343862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:18319072|PMID:25741868|PMID:27142713|PMID:28492532|PMID:29915382 8891514 Coq8a coenzyme Q8A gene DOID:9008086 Developmental Disabilities ISO RGD:1343862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18319074|PMID:20580948|PMID:24164873|PMID:28492532 8891514 Coq8a coenzyme Q8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8891514 Coq8a coenzyme Q8A gene DOID:9650 pathologic nystagmus ISO RGD:1343862 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25558065 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1345424 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:0050476 Barth syndrome ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:0112003 immunodeficiency 33 ISO RGD:1345424 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:10588 adrenoleukodystrophy ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:12849 autistic disorder ISO RGD:1345424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:13628 favism ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:2729 dyskeratosis congenita ISO RGD:1345424 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:607 paraplegia ISO RGD:1345424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:630 genetic disease ISO RGD:1345424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891548 Dusp9 dual specificity phosphatase 9 gene DOID:9002720 Splenomegaly ISO RGD:1345424 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8891557 LOC102013688 major histocompatibility complex class I-related gene protein gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8891557 LOC102013688 major histocompatibility complex class I-related gene protein gene DOID:1540 parathyroid carcinoma ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8891557 LOC102013688 major histocompatibility complex class I-related gene protein gene DOID:630 genetic disease ISO RGD:1343564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891557 LOC102013688 major histocompatibility complex class I-related gene protein gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8891557 LOC102013688 major histocompatibility complex class I-related gene protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:68977 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:0050851 glomerulosclerosis ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:12495295|REF_RGD_ID:6903859 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:0060224 atrial fibrillation ISO RGD:68977 D RGD:9068941 20200609 RGD associated with Mitral Valve Insufficiency PMID:20080265|REF_RGD_ID:5147453 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:68977 D RGD:9068941 20200702 RGD associated with hypertension PMID:32228222|REF_RGD_ID:30296671 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:0111682 diffuse cystic renal dysplasia ISO RGD:68977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to PMID:25741868|PMID:35005812 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10652 Alzheimer's disease ISO RGD:68977 D RGD:9068941 20200609 RGD protein:decreased expression:substantia nigra: PMID:8666063|REF_RGD_ID:10047397 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:21929736|REF_RGD_ID:10047395 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:1073 renal hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:7591011|REF_RGD_ID:10047107 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10763 hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:21346625|PMID:9622148|REF_RGD_ID:5129176|REF_RGD_ID:8549458 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10763 hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD associated with Sleep Apnea Syndromes PMID:21040717|REF_RGD_ID:5129169 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10763 hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:increased expression:aortic endothelial cell PMID:8181542|REF_RGD_ID:5147456 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10763 hypertension ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19047579|PMID:23603059|PMID:27292124|PMID:8952600 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10763 hypertension no_association ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C PMID:9456365|REF_RGD_ID:1601152 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10763 hypertension susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:g.1166A>C PMID:16519598|REF_RGD_ID:1601148 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10763 hypertension treatment ISO RGD:2070 D RGD:9068941 20230812 RGD PMID:30127255|REF_RGD_ID:401793709 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10825 essential hypertension ISO RGD:68977 D RGD:7240710 20180130 OMIM 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10825 essential hypertension ISO RGD:68977 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: Essential hypertension, genetic | ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:15042429|PMID:16116425|PMID:25741868|PMID:28492532|PMID:28973083|PMID:8021009|PMID:9084931 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10825 essential hypertension treatment ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:18604484|REF_RGD_ID:10047396 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:10952 nephritis ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:12077487|REF_RGD_ID:6903864 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:11335 sarcoidosis ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism: :1166A>C (human) PMID:20560294|REF_RGD_ID:5129165 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:11335 sarcoidosis no_association ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism: :1166A>C (human) PMID:21319597|REF_RGD_ID:5129164 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:12705 Friedreich ataxia ISO RGD:68977 D RGD:9068941 20230803 RGD DNA:SNP: :rs5186(human) PMID:21771600|REF_RGD_ID:401717567 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:12858 Huntington's disease ISO RGD:68977 D RGD:9068941 20200609 RGD protein:decreased expression:putamen: PMID:8666063|REF_RGD_ID:10047397 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:20886512|REF_RGD_ID:5129198 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:22120037|REF_RGD_ID:8549486 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:2070 D RGD:9068941 20200609 RGD protein:increased expression:kidney cortex PMID:21357516|REF_RGD_ID:5129175 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:13832 patent ductus arteriosus ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12904590|PMID:19336370 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:14330 Parkinson's disease ISO RGD:68977 D RGD:9068941 20200609 RGD protein:decreased expression:caudate nucleus,putamen,substantia nigra: PMID:8666063|REF_RGD_ID:10047397 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:1591 renovascular hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:16796846|PMID:21326341|REF_RGD_ID:5129177|REF_RGD_ID:5147455 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:1591 renovascular hypertension ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney: PMID:9644212|REF_RGD_ID:10047119 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:1612 breast cancer ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :1166A>C (human) PMID:23828384|REF_RGD_ID:8548866 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:2018 hyperinsulinism ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:16565309|REF_RGD_ID:1642975 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:2841 asthma ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:19080339|REF_RGD_ID:5147457 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:68977 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule PMID:15930094|REF_RGD_ID:6903851 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:3393 coronary artery disease ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:12975417|REF_RGD_ID:1566498 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:3407 carotid artery disease susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism:3' utr:g.1166A>C PMID:16519598|REF_RGD_ID:1601148 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17481528 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:3891 placental insufficiency ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:placenta PMID:20621762|REF_RGD_ID:5147460 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:68977 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:21102591|REF_RGD_ID:6903280 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2070 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:21282555|REF_RGD_ID:5129185 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:557 kidney disease ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15213268 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:576 proteinuria ISO RGD:2070 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:20042458|REF_RGD_ID:6903284 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:576 proteinuria ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17021606 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:5844 myocardial infarction ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:9652322|REF_RGD_ID:10047101 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:5844 myocardial infarction no_association ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C (human) PMID:9857918|REF_RGD_ID:1566499 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C PMID:16061119|REF_RGD_ID:1601150 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:6000 congestive heart failure ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17208988|PMID:18214293|PMID:18586661 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:6000 congestive heart failure treatment ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:21963897|REF_RGD_ID:8549482 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:630 genetic disease ISO RGD:68977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:6432 pulmonary hypertension onset ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C (human) PMID:19332265|REF_RGD_ID:5147450 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism:3' utr:1166A>C PMID:16109907|REF_RGD_ID:1601149 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22539767 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:784 chronic kidney disease ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:12089373|REF_RGD_ID:6903863 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:784 chronic kidney disease disease_progression ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C (human) PMID:12832734|REF_RGD_ID:8548869 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:68977 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:11451295|REF_RGD_ID:8548894 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:8947 diabetic retinopathy ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16601577 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:68977 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;DNA:polymorphism: :1166A>C (human PMID:16105049|REF_RGD_ID:8548864 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2070 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney cortex (rat) PMID:32416216|REF_RGD_ID:401793731 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9000528 Coronary Disease no_association ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C (human) PMID:9857918|REF_RGD_ID:1566499 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:1166A>C PMID:9456365|REF_RGD_ID:1601152 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9000784 Fibrosis ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:21367774|REF_RGD_ID:5129174 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:14982483|REF_RGD_ID:6903857 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:2070 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059164 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:2070 D RGD:9068941 20230812 RGD associated with hypertension PMID:30127255|REF_RGD_ID:401793709 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12172324|REF_RGD_ID:6903861 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:68977 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1166A>C (human) PMID:12476891|REF_RGD_ID:8548891 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:21303825|REF_RGD_ID:5129179 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16977796 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9003234 Hypertensive Nephropathy treatment ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:22089474|REF_RGD_ID:8548895 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:68977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9003936 Cardiomegaly ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:11324571|PMID:21367774|REF_RGD_ID:10047105|REF_RGD_ID:5129174 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9003936 Cardiomegaly ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:10639182|REF_RGD_ID:737777 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism:3' utr:1166A>C PMID:15612584|REF_RGD_ID:1601151 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:18421211|REF_RGD_ID:2292665 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:68977 D RGD:7240710 20180130 OMIM 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:68977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin PMID:15042429|PMID:16116425|PMID:18641512|PMID:20948563|PMID:21179236|PMID:22095942|PMID:22569962|PMID:24033266|PMID:25741868|PMID:26220970|PMID:28492532|PMID:35005812|PMID:8021009|PMID:9084931 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:2070 D RGD:9068941 20200609 RGD mRNA:increased expression:artery: PMID:9918604|REF_RGD_ID:10047106 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:24814703|REF_RGD_ID:10047100 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:68977 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.5186A>C PMID:17211857|REF_RGD_ID:1601146 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:2070 D RGD:9068941 20200609 RGD PMID:18252761|REF_RGD_ID:10047108 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2070 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:21078800|REF_RGD_ID:5129194 8891580 Agtr1 angiotensin II receptor type 1 gene DOID:9620 vesicoureteral reflux ISO RGD:68977 D RGD:9068941 20200609 RGD PMID:11819209|REF_RGD_ID:6903866 8891591 Mllt1 MLLT1 super elongation complex subunit gene DOID:2154 nephroblastoma ISO RGD:1345161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8891591 Mllt1 MLLT1 super elongation complex subunit gene DOID:630 genetic disease ISO RGD:1345161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891591 Mllt1 MLLT1 super elongation complex subunit gene DOID:9003133 Hypertelorism ISO RGD:1345161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism 8891615 Dkkl1 dickkopf like acrosomal protein 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1350645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8891615 Dkkl1 dickkopf like acrosomal protein 1 gene DOID:630 genetic disease ISO RGD:1350645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891653 Pdzd4 PDZ domain containing 4 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8891653 Pdzd4 PDZ domain containing 4 gene DOID:0050476 Barth syndrome ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8891653 Pdzd4 PDZ domain containing 4 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 8891653 Pdzd4 PDZ domain containing 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8891653 Pdzd4 PDZ domain containing 4 gene DOID:0080600 COVID-19 ISO RGD:1343770 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8891653 Pdzd4 PDZ domain containing 4 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1343770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 8891653 Pdzd4 PDZ domain containing 4 gene DOID:0112003 immunodeficiency 33 ISO RGD:1343770 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8891653 Pdzd4 PDZ domain containing 4 gene DOID:10588 adrenoleukodystrophy ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8891653 Pdzd4 PDZ domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1343770 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: intellectual disabilities 8891653 Pdzd4 PDZ domain containing 4 gene DOID:10907 microcephaly ISO RGD:1343770 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microcephaly 8891653 Pdzd4 PDZ domain containing 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8891653 Pdzd4 PDZ domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1343770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8891653 Pdzd4 PDZ domain containing 4 gene DOID:13628 favism ISO RGD:1343770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8891653 Pdzd4 PDZ domain containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1343770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8891653 Pdzd4 PDZ domain containing 4 gene DOID:480 movement disease ISO RGD:1343770 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Movement disorder 8891653 Pdzd4 PDZ domain containing 4 gene DOID:607 paraplegia ISO RGD:1343770 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8891653 Pdzd4 PDZ domain containing 4 gene DOID:630 genetic disease ISO RGD:1343770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891653 Pdzd4 PDZ domain containing 4 gene DOID:9002720 Splenomegaly ISO RGD:1343770 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8891668 Psd4 pleckstrin and Sec7 domain containing 4 gene DOID:630 genetic disease ISO RGD:1321104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891689 Lpp LIM domain containing preferred translocation partner in lipoma gene DOID:5419 schizophrenia ISO RGD:1321494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8891689 Lpp LIM domain containing preferred translocation partner in lipoma gene DOID:630 genetic disease ISO RGD:1321494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891689 Lpp LIM domain containing preferred translocation partner in lipoma gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8891689 Lpp LIM domain containing preferred translocation partner in lipoma gene DOID:9119 acute myeloid leukemia ISO RGD:1321494 D RGD:7240710 20180130 OMIM 8891689 Lpp LIM domain containing preferred translocation partner in lipoma gene DOID:9119 acute myeloid leukemia ISO RGD:1321494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 8891709 Hddc3 HD domain containing 3 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1606390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8891709 Hddc3 HD domain containing 3 gene DOID:2717 Bloom syndrome ISO RGD:1606390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8891709 Hddc3 HD domain containing 3 gene DOID:630 genetic disease ISO RGD:1606390 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21187176|PMID:21844811|PMID:23044707|PMID:23495136|PMID:25255310|PMID:25741868|PMID:27569545 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1606742 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:31690835 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:28492532 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1606742 D RGD:7240710 20180130 OMIM 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1606742 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition PMID:14508710|PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:17268193|PMID:17928003|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21419568|PMID:21599812|PMID:22302102|PMID:22378146|PMID:23032108|PMID:23850684|PMID:24075313|PMID:24128679|PMID:25341883|PMID:25689425|PMID:25741868|PMID:26467025|PMID:27084228|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362|PMID:7825577 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:0110811 hereditary spastic paraplegia 6 ISO RGD:1606742 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition PMID:14508710|PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:17268193|PMID:17928003|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21419568|PMID:21599812|PMID:22302102|PMID:22378146|PMID:23032108|PMID:23850684|PMID:24075313|PMID:24128679|PMID:25341883|PMID:25689425|PMID:25741868|PMID:26467025|PMID:27084228|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32501971|PMID:32581362|PMID:7825577 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:1059 intellectual disability ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:12849 autistic disorder ISO RGD:1606742 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:1932 Angelman syndrome ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1606742 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21599812|PMID:22302102|PMID:24075313|PMID:24128679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:5419 schizophrenia ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:607 paraplegia ISO RGD:1606742 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15643603|PMID:15711826|PMID:16267846|PMID:17092466|PMID:17166836|PMID:18191948|PMID:19091982|PMID:19620182|PMID:20816793|PMID:21599812|PMID:22302102|PMID:24075313|PMID:24128679|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29934652|PMID:31104286|PMID:31630374|PMID:32500351|PMID:32581362 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:630 genetic disease ISO RGD:1606742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 8891717 Nipa1 NIPA magnesium transporter 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 8891744 Cenpt centromere protein T gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8891744 Cenpt centromere protein T gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1604795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:25741868|PMID:28449119 8891744 Cenpt centromere protein T gene DOID:630 genetic disease ISO RGD:1604795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8891744 Cenpt centromere protein T gene DOID:655 inherited metabolic disorder ISO RGD:1604795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28449119 8891744 Cenpt centromere protein T gene DOID:9004567 Short Stature and Microcephaly with Genital Anomalies ISO RGD:1604795 D RGD:7240710 20200101 OMIM 8891744 Cenpt centromere protein T gene DOID:9004567 Short Stature and Microcephaly with Genital Anomalies ISO RGD:1604795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies PMID:25741868|PMID:29228025 8891771 Irf2bp1 interferon regulatory factor 2 binding protein 1 gene DOID:630 genetic disease ISO RGD:1318010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891788 Prph2 peripherin 2 gene DOID:0050439 Usher syndrome ISO RGD:735709 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868|PMID:28492532|PMID:32531846 8891788 Prph2 peripherin 2 gene DOID:0050444 infantile Refsum disease ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8891788 Prph2 peripherin 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10193525|PMID:10532447|PMID:11139241|PMID:11704030|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16113362|PMID:16799052|PMID:16885924|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22183351|PMID:22466463|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26667666|PMID:26842753|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32717343|PMID:33546218|PMID:7493155|PMID:8015786|PMID:8302543|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:735709 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10193525|PMID:10532447|PMID:11139241|PMID:11704030|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16113362|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22183351|PMID:22466463|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26667666|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32717343|PMID:33546218|PMID:34906470|PMID:7493155|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:735709 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:10193525|PMID:10532447|PMID:11139241|PMID:11704030|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16113362|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22183351|PMID:22466463|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26161267|PMID:26667666|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32717343|PMID:33546218|PMID:34240658|PMID:34906470|PMID:7493155|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitelliform dystrophy | ClinVar Annotator: match by term: Vitelliform macular dystrophy PMID:25741868|PMID:28492532|PMID:32531846 8891788 Prph2 peripherin 2 gene DOID:0050662 bestrophinopathy ISO RGD:735709 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:11139241|PMID:15370544|PMID:16113362|PMID:16799052|PMID:22466463|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25741868|PMID:28492532|PMID:28559085|PMID:32531846|PMID:33546218|PMID:34906470 8891788 Prph2 peripherin 2 gene DOID:0050795 cone dystrophy ISO RGD:735709 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:11139263|PMID:11801511|PMID:17653047|PMID:19038374|PMID:19243827|PMID:22003107|PMID:22334370|PMID:23950152|PMID:25741868|PMID:25999674|PMID:27813578|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29155698|PMID:29555955|PMID:30215852|PMID:30718709|PMID:31456290|PMID:32531846|PMID:33546218|PMID:34906036|PMID:8644804 8891788 Prph2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:0050817 Stargardt disease ISO RGD:735709 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34411390|PMID:34906036|PMID:34906470|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina PMID:11139241|PMID:11704030|PMID:16113362|PMID:16799052|PMID:17576681|PMID:23950152|PMID:25082885|PMID:25675413|PMID:25741868|PMID:26842753|PMID:28492532|PMID:28559085|PMID:32531846|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:0060863 patterned macular dystrophy ISO RGD:735709 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea PMID:10193525|PMID:10532447|PMID:10627133|PMID:10800708|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12925772|PMID:1427912|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22003107|PMID:22183351|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26355662|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31063015|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34240658|PMID:34906036|PMID:34906470|PMID:7493155|PMID:7825692|PMID:7880786|PMID:8015786|PMID:8045710|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8485574|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:0060866 patterned macular dystrophy 1 ISO RGD:735709 D RGD:7240710 20181219 OMIM 8891788 Prph2 peripherin 2 gene DOID:0060866 patterned macular dystrophy 1 ISO RGD:735709 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Patterned macular dystrophy 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:10800708|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12925772|PMID:1427912|PMID:14510799|PMID:14557183|PMID:15370544|PMID:15779916|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22003107|PMID:22183351|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26355662|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31063015|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34240658|PMID:34906036|PMID:34906470|PMID:34906502|PMID:7493155|PMID:7710395|PMID:7825692|PMID:7880786|PMID:8004111|PMID:8015786|PMID:8045710|PMID:8111389|PMID:8202715|PMID:8251014|PMID:8302543|PMID:8485574|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:0090059 enhanced S-cone syndrome ISO RGD:735710 D RGD:9068941 20200609 RGD PMID:23650562|REF_RGD_ID:8554862 8891788 Prph2 peripherin 2 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:735709 D RGD:7240710 20180130 OMIM 8891788 Prph2 peripherin 2 gene DOID:0110383 retinitis pigmentosa 7 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic PMID:10193525|PMID:10532447|PMID:10800708|PMID:11139241|PMID:11297544|PMID:11427722|PMID:11853584|PMID:11934323|PMID:12925772|PMID:14510799|PMID:16019073|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17148040|PMID:17504850|PMID:17653047|PMID:19038374|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22863181|PMID:23105016|PMID:23847139|PMID:23950152|PMID:24265693|PMID:24416769|PMID:24463884|PMID:24608669|PMID:24963162|PMID:25082885|PMID:25412400|PMID:25447119|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26321861|PMID:26355662|PMID:26667666|PMID:26720483|PMID:27365499|PMID:27813578|PMID:28041643|PMID:28045043|PMID:28076437|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29186038|PMID:29276052|PMID:29343940|PMID:29453956|PMID:29555955|PMID:31054281|PMID:31213501|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:33546218|PMID:7493155|PMID:7825692|PMID:7880786|PMID:7904791|PMID:8015786|PMID:8019570|PMID:8020945|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8740695|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872 8891788 Prph2 peripherin 2 gene DOID:10283 prostate cancer ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8891788 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 8891788 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 8891788 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9361310|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:33576794|PMID:33691693|PMID:34906036|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 8891788 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:33576794|PMID:33691693|PMID:34906036|PMID:34906470|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 8891788 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31877679|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:33576794|PMID:33691693|PMID:34906036|PMID:34906470|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 8891788 Prph2 peripherin 2 gene DOID:10584 retinitis pigmentosa ISO RGD:735709 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10193525|PMID:10532447|PMID:10747861|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:12045052|PMID:12925772|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16767206|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22842402|PMID:22863181|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:24938718|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25494902|PMID:25675413|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26061163|PMID:26103963|PMID:26161267|PMID:26667666|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27813578|PMID:27884173|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28838317|PMID:29155698|PMID:29276052|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30822235|PMID:30924848|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31877679|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:33576794|PMID:33691693|PMID:34240658|PMID:34906036|PMID:34906470|PMID:7493155|PMID:7754251|PMID:8015786|PMID:8019570|PMID:8058286|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8449524|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8943002|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9361310|PMID:9443872|PMID:9536098|PMID:9673478 8891788 Prph2 peripherin 2 gene DOID:11105 fundus albipunctatus ISO RGD:735709 D RGD:7240710 20180130 OMIM 8891788 Prph2 peripherin 2 gene DOID:11105 fundus albipunctatus ISO RGD:735709 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant PMID:10627133|PMID:11139241|PMID:12042139|PMID:14510799|PMID:15579992|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:20213611|PMID:21071739|PMID:22863181|PMID:24629188|PMID:25268133|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:26061163|PMID:26161267|PMID:27365499|PMID:27884173|PMID:28041643|PMID:28492530|PMID:28492532|PMID:29555955|PMID:29847639|PMID:30718709|PMID:30726412|PMID:31213501|PMID:31429209|PMID:32531846|PMID:32717343|PMID:33546218|PMID:34240658|PMID:8111389|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8994365|PMID:9279751|PMID:9331261 8891788 Prph2 peripherin 2 gene DOID:1417 choroid disease ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choroidal Dystrophy PMID:25741868|PMID:28492532|PMID:32531846 8891788 Prph2 peripherin 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:735709 D RGD:9068941 20231109 RGD DNA:polymorphism:cds:p.L185P(human) PMID:23847139|REF_RGD_ID:8553209 8891788 Prph2 peripherin 2 gene DOID:4448 macular degeneration ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy PMID:10532447|PMID:10627133|PMID:12042139|PMID:16916875|PMID:17504850|PMID:17653047|PMID:19038374|PMID:19243827|PMID:21071739|PMID:22003107|PMID:22863181|PMID:25082885|PMID:25447119|PMID:25675413|PMID:25741868|PMID:26061163|PMID:27365499|PMID:279751|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29453956|PMID:29555955|PMID:29847639|PMID:30718709|PMID:30726412|PMID:31213501|PMID:31429209|PMID:31618092|PMID:32531846|PMID:32717343|PMID:33546218|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8994365|PMID:9279751|PMID:9443872 8891788 Prph2 peripherin 2 gene DOID:5679 retinal disease ISO RGD:3549 D RGD:9068941 20200609 RGD PMID:8320859|REF_RGD_ID:8553226 8891788 Prph2 peripherin 2 gene DOID:630 genetic disease ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:9052636 8891788 Prph2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:874A>G(p.S212G)(human) PMID:18050133|REF_RGD_ID:8553215 8891788 Prph2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.P210R(human) PMID:7862413|REF_RGD_ID:8553219 8891788 Prph2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S27F(human) PMID:9052636|REF_RGD_ID:8553212 8891788 Prph2 peripherin 2 gene DOID:8466 retinal degeneration ISO RGD:735710 D RGD:9068941 20200609 RGD PMID:10888879|PMID:2918924|REF_RGD_ID:8553191|REF_RGD_ID:8553193 8891788 Prph2 peripherin 2 gene DOID:8501 fundus dystrophy ISO RGD:735709 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10532447|PMID:10627133|PMID:10800708|PMID:10862101|PMID:11139241|PMID:11139263|PMID:11297544|PMID:11427722|PMID:11704030|PMID:11801511|PMID:11853584|PMID:11934323|PMID:12042139|PMID:12045052|PMID:12566026|PMID:12925772|PMID:1427912|PMID:14510799|PMID:14557183|PMID:15370544|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16340530|PMID:16799052|PMID:1684223|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18050133|PMID:18310263|PMID:19038374|PMID:19243827|PMID:20213611|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23847139|PMID:23950152|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25390130|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25741868|PMID:25999674|PMID:26061163|PMID:26355662|PMID:26720483|PMID:26796962|PMID:26842753|PMID:27208204|PMID:27365499|PMID:27813578|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28761320|PMID:29155698|PMID:29186038|PMID:29276052|PMID:29343940|PMID:29453956|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30217183|PMID:30718709|PMID:30726412|PMID:30731082|PMID:30822235|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:34906470|PMID:35260635|PMID:36909829|PMID:4142662|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8111389|PMID:8202715|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8943002|PMID:8994365|PMID:9052636|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:8501 fundus dystrophy no_association ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.E304Q,G338D(human) PMID:9690896|REF_RGD_ID:8553224 8891788 Prph2 peripherin 2 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Best vitelliform macular dystrophy, multifocal | ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:10193525|PMID:10532447|PMID:11139241|PMID:11485765|PMID:11704030|PMID:12045052|PMID:1427912|PMID:16019073|PMID:16113362|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18050133|PMID:19038374|PMID:19262438|PMID:20640437|PMID:21071739|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25082885|PMID:25675413|PMID:25741868|PMID:25803555|PMID:26061163|PMID:26103963|PMID:26667666|PMID:26796962|PMID:26842753|PMID:27365499|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29343940|PMID:29555955|PMID:30718709|PMID:31213501|PMID:31456290|PMID:31574917|PMID:32531846|PMID:33546218|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7862413|PMID:8015786|PMID:8045710|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9338584|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:9003803 Retinitis Pigmentosa, Late-Onset Dominant ISO RGD:735709 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.C214S(human) PMID:8244346|REF_RGD_ID:8553240 8891788 Prph2 peripherin 2 gene DOID:9005836 Central Areolar Choroidal Dystrophy 2 ISO RGD:735709 D RGD:7240710 20180130 OMIM 8891788 Prph2 peripherin 2 gene DOID:9005836 Central Areolar Choroidal Dystrophy 2 ISO RGD:735709 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Choroidal dystrophy, central areolar 2 | ClinVar Annotator: match by term: MACULAR DYSTROPHY, PROGRESSIVE PMID:10193525|PMID:10532447|PMID:11139241|PMID:11139263|PMID:11801511|PMID:14510799|PMID:14557183|PMID:16019073|PMID:16767206|PMID:16799052|PMID:16832026|PMID:16885924|PMID:17653047|PMID:17698758|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:22003107|PMID:22334370|PMID:22863181|PMID:23950152|PMID:24463884|PMID:24608669|PMID:24629188|PMID:25082885|PMID:25268133|PMID:25474345|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26321861|PMID:26667666|PMID:26796962|PMID:27813578|PMID:27884173|PMID:28076437|PMID:28224992|PMID:28492530|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34240658|PMID:34906036|PMID:36909829|PMID:7493155|PMID:8015786|PMID:8302543|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872 8891788 Prph2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:735709 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1 PMID:10193525|PMID:10532447|PMID:10627133|PMID:11139241|PMID:11139263|PMID:11704030|PMID:11801511|PMID:11934323|PMID:12042139|PMID:12566026|PMID:14510799|PMID:15370544|PMID:16019073|PMID:16024869|PMID:16113362|PMID:16199547|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17296903|PMID:17504850|PMID:17576681|PMID:17653047|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:19262438|PMID:20213611|PMID:20640437|PMID:21071739|PMID:21269699|PMID:22003107|PMID:22334370|PMID:22466463|PMID:22581970|PMID:22863181|PMID:23105016|PMID:23591405|PMID:23950152|PMID:24463884|PMID:24608669|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25324289|PMID:25412400|PMID:25447119|PMID:25474345|PMID:25675413|PMID:25698705|PMID:25741868|PMID:25803555|PMID:25999674|PMID:26024099|PMID:26061163|PMID:26103963|PMID:26155838|PMID:26355662|PMID:26667666|PMID:26842753|PMID:27365499|PMID:27813578|PMID:279751|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29155698|PMID:29186038|PMID:29343940|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:30726412|PMID:30926958|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31574917|PMID:31618092|PMID:32037395|PMID:32531846|PMID:32581362|PMID:32660024|PMID:32717343|PMID:33546218|PMID:34906036|PMID:34906470|PMID:4142662|PMID:7493155|PMID:7519821|PMID:7825692|PMID:7862413|PMID:7880786|PMID:8015786|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8644804|PMID:8675410|PMID:8747448|PMID:8994365|PMID:9010868|PMID:9279751|PMID:9331261|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:9007965 Vitelliform Macular Dystrophy 3 ISO RGD:735709 D RGD:7240710 20190227 OMIM 8891788 Prph2 peripherin 2 gene DOID:9007965 Vitelliform Macular Dystrophy 3 ISO RGD:735709 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adult onset vitelliform dystrophy | ClinVar Annotator: match by term: FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION | ClinVar Annotator: match by term: Macular dystrophy, vitelliform, adult-onset | ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 PMID:10532447|PMID:11139241|PMID:12566026|PMID:1427912|PMID:14510799|PMID:15370544|PMID:16113362|PMID:16767206|PMID:16799052|PMID:16885924|PMID:16916875|PMID:17249552|PMID:17504850|PMID:17576681|PMID:17653047|PMID:17698758|PMID:18050133|PMID:18161617|PMID:18310263|PMID:19038374|PMID:19243827|PMID:20213611|PMID:21071739|PMID:22003107|PMID:22466463|PMID:22863181|PMID:24629188|PMID:25001182|PMID:25082885|PMID:25097241|PMID:25268133|PMID:25472526|PMID:25474345|PMID:25675413|PMID:25741868|PMID:26061163|PMID:26161267|PMID:26796962|PMID:27365499|PMID:27884173|PMID:28492530|PMID:28492532|PMID:28559085|PMID:29453956|PMID:29555955|PMID:30718709|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31618092|PMID:32531846|PMID:32717343|PMID:33546218|PMID:34240658|PMID:34906470|PMID:4142662|PMID:7519821|PMID:7862413|PMID:8111389|PMID:8302543|PMID:8485575|PMID:8485576|PMID:8675410|PMID:8994365|PMID:9279751|PMID:9331261|PMID:9338584|PMID:9443872|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:905 Zellweger syndrome ISO RGD:735709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8891788 Prph2 peripherin 2 gene DOID:980 choroidal sclerosis ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central areolar choroidal dystrophy PMID:25741868 8891788 Prph2 peripherin 2 gene DOID:9821 Choroideremia ISO RGD:735709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy PMID:11139241|PMID:11704030|PMID:16113362|PMID:16799052|PMID:17576681|PMID:23950152|PMID:25082885|PMID:25675413|PMID:25741868|PMID:26842753|PMID:28492532|PMID:28559085|PMID:32531846|PMID:9536098 8891788 Prph2 peripherin 2 gene DOID:9822 partial central choroid dystrophy ISO RGD:735710 D RGD:9068941 20240229 MouseDO OMIM:613105 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:0050328 congenital hypothyroidism ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum (rat) PMID:20515651|REF_RGD_ID:10059677 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:0050855 renal fibrosis ISO RGD:620925 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; mRNA:decreased expression:kidney (rat) PMID:21784897|REF_RGD_ID:7242027 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:0060180 colitis ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22126533|REF_RGD_ID:6484264 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius muscle (rat) PMID:23320128|REF_RGD_ID:7241841 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:21373642|REF_RGD_ID:6484527 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:1342674 D RGD:9068941 20200609 RGD associated with Obesity; DNA:missense mutation:cds:p.G482S rs8192678 (human) PMID:23269818|REF_RGD_ID:7241847 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:620925 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:0080855 Parkinsonism ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:21376232|PMID:22040668|PMID:22246294|REF_RGD_ID:6484262|REF_RGD_ID:6484267|REF_RGD_ID:6484271 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:10376 amblyopia ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:visual cortex (rat) PMID:20438809|REF_RGD_ID:10059668 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:10603 glucose intolerance ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:quadriceps muscle (mouse) PMID:19158402|REF_RGD_ID:7242049 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:10652 Alzheimer's disease ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:22540007|REF_RGD_ID:6484260 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:10652 Alzheimer's disease ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22510382|REF_RGD_ID:7242180 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampal formation (human) PMID:19273754|REF_RGD_ID:7242017 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:1074 kidney failure ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22076434|REF_RGD_ID:7242044 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:10871 age related macular degeneration ISO RGD:1332548 D RGD:9068941 20220825 MouseDO 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:114 heart disease ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:23533487|REF_RGD_ID:7242188 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:11446 sciatic neuropathy ISO RGD:620925 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22996345|REF_RGD_ID:7242051 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:11716 prediabetes syndrome ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:testis (rat) PMID:24361842|REF_RGD_ID:9586046 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:1184 nephrotic syndrome ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex (rat) PMID:22874759|REF_RGD_ID:7242024 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12217 Lewy body dementia ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12236 primary biliary cholangitis ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:21651979|REF_RGD_ID:6484269 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:medium spiny neuron (mouse) PMID:17018277|REF_RGD_ID:7242018 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human) PMID:22589246|REF_RGD_ID:6484259 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA:decreased expression:caudate nucleus (human) PMID:17018277|REF_RGD_ID:7242018 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease ISO RGD:620925 D RGD:9068941 20200609 RGD protein:increased expression:subthalamic nucleus (rat) PMID:22813864|REF_RGD_ID:10395291 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease no_association ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:pT612M (rs3736265) (human) PMID:19133136|REF_RGD_ID:10053656 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:pT612M (rs3736265) (human) PMID:24383721|REF_RGD_ID:10053663 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS2-19637A>G (rs7665116) (human) PMID:21595933|REF_RGD_ID:6770890 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1437T>C (rs2970870) (human) PMID:21211002|REF_RGD_ID:10395290 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:19133136|REF_RGD_ID:10053656 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease severity ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:17018277|REF_RGD_ID:7242018 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease severity ISO RGD:1342674 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:21757867|REF_RGD_ID:10395289 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:20736066|REF_RGD_ID:10053648 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12858 Huntington's disease treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:21493629|REF_RGD_ID:10053650 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snps:cds, 3' utr:p.T612M, *2380G>A (rs3736265, rs3774923) (human) PMID:18162502|REF_RGD_ID:7242032 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:19242323|REF_RGD_ID:2311057 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:12934 Kearns-Sayre syndrome ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23406886|REF_RGD_ID:7241824 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease ISO RGD:1332548 D RGD:9068941 20220825 MouseDO 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease ISO RGD:1342674 D RGD:9068941 20200609 RGD PMID:21376232|REF_RGD_ID:6484271 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:14330 Parkinson's disease onset ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr: (rs2970848, rs6821591) (human) PMID:21595954|REF_RGD_ID:6484270 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:1907 malignant fibrous histiocytoma treatment ISO RGD:1342674 D RGD:9068941 20200609 RGD human cell line in mouse model PMID:23166610|REF_RGD_ID:7242013 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:1909 melanoma severity ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:23416000|REF_RGD_ID:7241823 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:263 kidney cancer ISO RGD:1342674 D RGD:9068941 20200609 RGD associated with Birt-Hogg-Dube Syndrome; mRNA:increased expression:kidney (human) PMID:23150719|REF_RGD_ID:7242016 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1342674 D RGD:9068941 20200609 RGD PMID:20732852|REF_RGD_ID:6484530 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse) PMID:23147503|REF_RGD_ID:7242019 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342674 D RGD:9068941 20200609 RGD human gene in mouse model PMID:22102466|REF_RGD_ID:6484265 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA:decreased expression:motor cortex, muscle (human) PMID:23147503|REF_RGD_ID:7242019 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1342674 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:3891 placental insufficiency ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:gastrocnemius muscle (rat) PMID:18319353|REF_RGD_ID:10059693 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:4195 hyperglycemia ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22922125|REF_RGD_ID:7242061 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:4195 hyperglycemia ISO RGD:620925 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart left ventricle, myocardium (rat) PMID:19367030|REF_RGD_ID:10059674 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:4195 hyperglycemia treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD associated with Obesity PMID:23499865|REF_RGD_ID:7241854 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:4448 macular degeneration ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snps:exon, 3' utr:g.76874A>G, g.*2381A>G (rs3736265, rs3774923) (human) PMID:23335958|REF_RGD_ID:7241840 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:5419 schizophrenia ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23348010|REF_RGD_ID:7241837 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:5844 myocardial infarction ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22503866 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:5844 myocardial infarction ISO RGD:1342674 D RGD:9068941 20200609 RGD PMID:22087236|REF_RGD_ID:6484266 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:5844 myocardial infarction ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:heart (rat) PMID:22503866|REF_RGD_ID:7242181 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart (mouse) PMID:23297372|REF_RGD_ID:7241843 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808358|PMID:22503866 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:6000 congestive heart failure onset ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23342071|REF_RGD_ID:7241838 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:630 genetic disease ISO RGD:1342674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:784 chronic kidney disease ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:22648295|REF_RGD_ID:7242023 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:7998 hyperthyroidism ISO RGD:620925 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle (rat) PMID:18669938|REF_RGD_ID:10059691 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:8947 diabetic retinopathy ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:20566666|REF_RGD_ID:6484532 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:8947 diabetic retinopathy ISO RGD:620925 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) PMID:22003111|REF_RGD_ID:5686899 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22208735|REF_RGD_ID:6484263 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:1332548 D RGD:9068941 20230831 RGD PMID:28062499|REF_RGD_ID:329955458 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9000669 Ventricular Dysfunction, Right treatment ISO RGD:620925 D RGD:9068941 20220916 RGD PMID:22523357|REF_RGD_ID:155226858 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22795790 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9000998 Brain Injuries ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:22642418|REF_RGD_ID:6484257 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9000998 Brain Injuries treatment ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:24345766|REF_RGD_ID:10059630 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9001542 Albuminuria ISO RGD:1342674 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human) PMID:22684233|REF_RGD_ID:7242025 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.G482S (human) PMID:19900151|REF_RGD_ID:7242045 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:1342674 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (human) PMID:21784897|REF_RGD_ID:7242027 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:18433551|REF_RGD_ID:10059649 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9002399 Takotsubo Cardiomyopathy ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium (rat) PMID:23271280|REF_RGD_ID:7241846 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9002669 Hypoxia treatment ISO RGD:620925 D RGD:9068941 20230720 RGD mRNA:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9003936 Cardiomegaly ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:14726475|REF_RGD_ID:10053662 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9003936 Cardiomegaly ISO RGD:620925 D RGD:9068941 20200609 RGD protein:increased expression:myocardium of left ventricle (rat) PMID:22105890|REF_RGD_ID:7242192 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9004484 Sepsis ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:20647557|REF_RGD_ID:6484531 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9004484 Sepsis ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:20647557|REF_RGD_ID:6484531 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.G482S (rs8192678) (human) PMID:22392034|REF_RGD_ID:6484261 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (mouse) PMID:18802029|REF_RGD_ID:7297042 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1332548 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (mouse) PMID:22561641|REF_RGD_ID:7242175 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:18270681|REF_RGD_ID:2311391 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:19520786|PMID:23272147|REF_RGD_ID:2311445|REF_RGD_ID:7241845 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased expression:heart right ventricle (rat) PMID:23152488|REF_RGD_ID:7242015 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9006182 Carotid Artery Injuries ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22892143|REF_RGD_ID:7242065 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD mouse gene in a rat model PMID:19553562|REF_RGD_ID:2311405 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:24918615|REF_RGD_ID:10059636 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:620925 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9006646 Metabolic Syndrome ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius muscle (rat) PMID:20383225|REF_RGD_ID:10059661 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9007170 Bowen's Disease ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21514422 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9007692 Insulin Resistance ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G482S rs8192678 (human) PMID:23449621|REF_RGD_ID:7241821 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9007692 Insulin Resistance ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:22658649|REF_RGD_ID:7242170 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9007692 Insulin Resistance treatment ISO RGD:620925 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9007801 Diseases of the Aged ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:24336883|REF_RGD_ID:10401813 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:19096023|REF_RGD_ID:10059669 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9008824 Sarcopenia ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:altered expression:gastrocnemius muscle (rat) PMID:16870628|REF_RGD_ID:10053649 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1332548 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (mouse) PMID:22561641|REF_RGD_ID:7242175 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15592662|PMID:17317762 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:g.-383 (human) PMID:23251491|REF_RGD_ID:7241849 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.G482S (human) PMID:18270681|REF_RGD_ID:2311391 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1342674 D RGD:9068941 20200609 RGD protein:decreased expression:vastus lateralis (human) PMID:23210442|REF_RGD_ID:7242009 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:decreased expression:soleus muscle:type I muscle fiber (rat) PMID:17158179|REF_RGD_ID:10059689 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.G482S (human, Pima Indians) PMID:12606537|REF_RGD_ID:7242043 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1342674 D RGD:9068941 20200609 RGD DNA:snps:intron:IVS3+52T>G, IVS3+21963A>G (rs2946385, rs4235308) (human) PMID:18162502|REF_RGD_ID:7242032 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23250358|REF_RGD_ID:7241851 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:22824914|REF_RGD_ID:7242067 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9452 steatotic liver disease ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23174781|REF_RGD_ID:7242012 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9452 steatotic liver disease ISO RGD:620925 D RGD:9068941 20200609 RGD protein:decreased methylation:liver (rat) PMID:22521344|REF_RGD_ID:7242179 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9452 steatotic liver disease treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:23274094|REF_RGD_ID:7241844 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9675 pulmonary emphysema ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23144332|REF_RGD_ID:7242020 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:1332548 D RGD:9068941 20200609 RGD mRNA:altered expression:heart, brain, mitochondrion (mouse) PMID:19542201|REF_RGD_ID:7242046 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9970 obesity ISO RGD:620925 D RGD:9068941 20200609 RGD mRNA:increased expression:retroperitoneal fat pad (rat) PMID:22401878|REF_RGD_ID:7242183 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9970 obesity treatment ISO RGD:1332548 D RGD:9068941 20200609 RGD PMID:23180161|REF_RGD_ID:7242011 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9970 obesity treatment ISO RGD:620925 D RGD:9068941 20200609 RGD PMID:23256146|REF_RGD_ID:7241848 8891795 Ppargc1a PPARG coactivator 1 alpha gene DOID:9970 obesity treatment ISO RGD:620925 D RGD:9068941 20230720 RGD mRNA:decreased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8891795 Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha gene DOID:3021 acute kidney failure ISO RGD:1332548 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:21881206|REF_RGD_ID:7242026 8891827 LOC102027767 chromosome unknown open reading frame, human C4orf33 gene DOID:630 genetic disease ISO RGD:1601935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891858 Rtl4 retrotransposon Gag like 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8891858 Rtl4 retrotransposon Gag like 4 gene DOID:12849 autistic disorder ISO RGD:1603494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8891858 Rtl4 retrotransposon Gag like 4 gene DOID:5419 schizophrenia ISO RGD:1603494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8891858 Rtl4 retrotransposon Gag like 4 gene DOID:630 genetic disease ISO RGD:1603494 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891865 Hddc2 HD domain containing 2 gene DOID:630 genetic disease ISO RGD:1316830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891881 Vps26b VPS26, retromer complex component B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8891881 Vps26b VPS26, retromer complex component B gene DOID:5419 schizophrenia ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8891881 Vps26b VPS26, retromer complex component B gene DOID:630 genetic disease ISO RGD:1603929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891881 Vps26b VPS26, retromer complex component B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8891881 Vps26b VPS26, retromer complex component B gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1603929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 8891894 Dtwd2 DTW domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604482 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8891894 Dtwd2 DTW domain containing 2 gene DOID:630 genetic disease ISO RGD:1604482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891894 Dtwd2 DTW domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8891894 Dtwd2 DTW domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604482 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8891906 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:733295 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11536077|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30289319|PMID:36909829 8891906 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0050795 cone dystrophy ISO RGD:733295 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:18521937|PMID:25741868|PMID:26493561|PMID:28041643|PMID:28492532|PMID:30289319|PMID:32783370|PMID:32913385|PMID:35332618|PMID:36259723 8891906 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0110007 achromatopsia 2 ISO RGD:733295 D RGD:7240710 20180130 OMIM 8891906 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:0110007 achromatopsia 2 ISO RGD:733295 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Achromatopsia 2 | ClinVar Annotator: match by term: Rod monochromacy 2 PMID:11536077|PMID:14715947|PMID:14757870|PMID:15712225|PMID:15743887|PMID:15980212|PMID:16199547|PMID:16961972|PMID:17265047|PMID:17576681|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20079539|PMID:20088482|PMID:20238023|PMID:20506298|PMID:20549516|PMID:21268679|PMID:21778272|PMID:21901789|PMID:21912902|PMID:22995991|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24676353|PMID:24903488|PMID:24906859|PMID:25052312|PMID:25168900|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26036949|PMID:26106334|PMID:26355662|PMID:26407004|PMID:26493561|PMID:26992781|PMID:27208204|PMID:27535533|PMID:27820752|PMID:28041643|PMID:28159970|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29099798|PMID:29165669|PMID:29618791|PMID:30289319|PMID:30337596|PMID:30418171|PMID:30653986|PMID:30682209|PMID:30711023|PMID:31456290|PMID:32531858|PMID:32783370|PMID:32913385|PMID:33546218|PMID:35119454|PMID:35332618|PMID:36259723|PMID:36980963|PMID:9536098|PMID:9662398 8891906 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:13399 color blindness ISO RGD:733295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Color vision defect PMID:11536077|PMID:17693388|PMID:20238023|PMID:25741868|PMID:26992781|PMID:28492532 8891906 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:13911 achromatopsia ISO RGD:733295 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:11536077|PMID:14757870|PMID:15712225|PMID:16961972|PMID:17265047|PMID:17576681|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20079539|PMID:20088482|PMID:20238023|PMID:20506298|PMID:20549516|PMID:21778272|PMID:22995991|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24903488|PMID:25168900|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26036949|PMID:26992781|PMID:27535533|PMID:27820752|PMID:28159970|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29618791|PMID:30418171|PMID:30653986|PMID:30682209|PMID:30711023|PMID:31456290|PMID:32913385|PMID:35119454|PMID:36259723|PMID:36909829|PMID:9536098|PMID:9662398 8891906 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:4448 macular degeneration ISO RGD:733295 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:11536077|PMID:17693388|PMID:18445228|PMID:23972307|PMID:24033266|PMID:25741868|PMID:28341476|PMID:28492532|PMID:28559085|PMID:30653986|PMID:30682209 8891906 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:630 genetic disease ISO RGD:733295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11536077|PMID:17265047|PMID:17693388|PMID:18521937|PMID:23972307|PMID:24033266|PMID:24504161|PMID:24903488|PMID:25616768|PMID:28492532|PMID:29618791|PMID:31456290|PMID:9662398 8891906 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:8501 fundus dystrophy ISO RGD:733295 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11536077|PMID:14757870|PMID:15712225|PMID:15743887|PMID:15980212|PMID:16961972|PMID:17265047|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20088482|PMID:20238023|PMID:20506298|PMID:21268679|PMID:21778272|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24676353|PMID:24903488|PMID:24906859|PMID:25168900|PMID:25283059|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26407004|PMID:26493561|PMID:26992781|PMID:27208204|PMID:27820752|PMID:28041643|PMID:28159970|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29618791|PMID:30289319|PMID:30337596|PMID:30653986|PMID:30682209|PMID:30711023|PMID:31456290|PMID:32531858|PMID:32783370|PMID:32913385|PMID:33546218|PMID:35119454|PMID:35332618|PMID:36259723|PMID:36980963|PMID:9662398 8891906 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:9003656 Achromatopsia 1 ISO RGD:733295 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Rod monochromatism PMID:11536077|PMID:14757870|PMID:17693388|PMID:23972307|PMID:25741868|PMID:28492532|PMID:30418171|PMID:30682209|PMID:32913385|PMID:9662398 8891906 Cnga3 cyclic nucleotide gated channel subunit alpha 3 gene DOID:9008296 Eye Abnormalities ISO RGD:733295 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:11536077|PMID:14757870|PMID:15743887|PMID:17693388|PMID:18445228|PMID:23972307|PMID:24033266|PMID:24903488|PMID:25637600|PMID:25741868|PMID:27624628|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28559085|PMID:30653986|PMID:30682209|PMID:32531858|PMID:36980963 8891917 Utp23 UTP23 small subunit processome component gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1601941 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P215Q (rs16888728) (human) PMID:26553438|REF_RGD_ID:11041896 8891917 Utp23 UTP23 small subunit processome component gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1601941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 PMID:28492532 8891917 Utp23 UTP23 small subunit processome component gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1601941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8891917 Utp23 UTP23 small subunit processome component gene DOID:206 hereditary multiple exostoses ISO RGD:1601941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 8891917 Utp23 UTP23 small subunit processome component gene DOID:630 genetic disease ISO RGD:1601941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891924 Mapk7 mitogen-activated protein kinase 7 gene DOID:0060250 idiopathic scoliosis ISO RGD:1345735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:28714182 8891924 Mapk7 mitogen-activated protein kinase 7 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1345735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8891924 Mapk7 mitogen-activated protein kinase 7 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1345735 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8891924 Mapk7 mitogen-activated protein kinase 7 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1345735 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8891924 Mapk7 mitogen-activated protein kinase 7 gene DOID:10283 prostate cancer ISO RGD:1345735 D RGD:9068941 20200609 RGD PMID:18071319|REF_RGD_ID:2298796 8891924 Mapk7 mitogen-activated protein kinase 7 gene DOID:12849 autistic disorder ISO RGD:1345735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8891924 Mapk7 mitogen-activated protein kinase 7 gene DOID:630 genetic disease ISO RGD:1345735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891924 Mapk7 mitogen-activated protein kinase 7 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1345735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 8891924 Mapk7 mitogen-activated protein kinase 7 gene DOID:9002170 Experimental Neoplasms ISO RGD:1345735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507229 8891924 Mapk7 mitogen-activated protein kinase 7 gene DOID:9002211 Hyperalgesia ISO RGD:1345735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17237256 8891956 Scarf1 scavenger receptor class F member 1 gene DOID:630 genetic disease ISO RGD:1319619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8891971 Map3k6 mitogen-activated protein kinase kinase kinase 6 gene DOID:0080600 COVID-19 ISO RGD:1312170 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8891971 Map3k6 mitogen-activated protein kinase kinase kinase 6 gene DOID:630 genetic disease ISO RGD:1312170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892010 Ca5a carbonic anhydrase 5A gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1347153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8892010 Ca5a carbonic anhydrase 5A gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1347153 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8892010 Ca5a carbonic anhydrase 5A gene DOID:14780 KBG syndrome ISO RGD:1347153 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8892010 Ca5a carbonic anhydrase 5A gene DOID:630 genetic disease ISO RGD:1347153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8892010 Ca5a carbonic anhydrase 5A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8892010 Ca5a carbonic anhydrase 5A gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1347153 D RGD:7240710 20180130 OMIM 8892010 Ca5a carbonic anhydrase 5A gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1347153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:17576681|PMID:24530203|PMID:25640679|PMID:25741868|PMID:25834911|PMID:26913920|PMID:28492532|PMID:31641285|PMID:32381389|PMID:33473334|PMID:9536098 8892010 Ca5a carbonic anhydrase 5A gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1347153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8892021 Itga8 integrin subunit alpha 8 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:736147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8892021 Itga8 integrin subunit alpha 8 gene DOID:14766 renal agenesis ISO RGD:736147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8892021 Itga8 integrin subunit alpha 8 gene DOID:2394 ovarian cancer ISO RGD:736147 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17303177|REF_RGD_ID:2302241 8892021 Itga8 integrin subunit alpha 8 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:621634 D RGD:9068941 20200609 RGD mRNA:increased expression:cortex of kidney PMID:25482639|REF_RGD_ID:12910487 8892021 Itga8 integrin subunit alpha 8 gene DOID:5419 schizophrenia treatment ISO RGD:736147 D RGD:9068941 20200609 RGD DNA:SNP:cds: rs2298033(human) PMID:23153507|REF_RGD_ID:13601982 8892021 Itga8 integrin subunit alpha 8 gene DOID:630 genetic disease ISO RGD:736147 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8892021 Itga8 integrin subunit alpha 8 gene DOID:783 end stage renal disease ISO RGD:736147 D RGD:9068941 20200609 RGD associated with Polycystic Kidney, Autosomal Dominant;DNA:polymorphism: :-414T>C(human) PMID:18277079|REF_RGD_ID:7257723 8892021 Itga8 integrin subunit alpha 8 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736147 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18277079|REF_RGD_ID:7257723 8892021 Itga8 integrin subunit alpha 8 gene DOID:9000217 Stomach Neoplasms ISO RGD:736147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17786296 8892021 Itga8 integrin subunit alpha 8 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 8892021 Itga8 integrin subunit alpha 8 gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:736147 D RGD:7240710 20180711 OMIM 8892021 Itga8 integrin subunit alpha 8 gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:736147 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:24439109|PMID:24700879|PMID:25741868|PMID:28492532|PMID:33532864 8892055 Exd1 exonuclease 3'-5' domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1605271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8892055 Exd1 exonuclease 3'-5' domain containing 1 gene DOID:630 genetic disease ISO RGD:1605271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892055 Exd1 exonuclease 3'-5' domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1605271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8892070 Hoxd11 homeobox D11 gene DOID:0080006 bone development disease ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7925020 8892070 Hoxd11 homeobox D11 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1346896 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8892070 Hoxd11 homeobox D11 gene DOID:12336 male infertility ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7925020 8892070 Hoxd11 homeobox D11 gene DOID:12849 autistic disorder ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19540081 8892070 Hoxd11 homeobox D11 gene DOID:3070 high grade glioma ISO RGD:1346896 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33614284 8892070 Hoxd11 homeobox D11 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 8892070 Hoxd11 homeobox D11 gene DOID:557 kidney disease ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7596412 8892070 Hoxd11 homeobox D11 gene DOID:630 genetic disease ISO RGD:1346896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892070 Hoxd11 homeobox D11 gene DOID:7148 rheumatoid arthritis ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 8892070 Hoxd11 homeobox D11 gene DOID:9000918 Disease Progression ISO RGD:1346896 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33614284 8892070 Hoxd11 homeobox D11 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303177 8892070 Hoxd11 homeobox D11 gene DOID:9004998 Kyphoscoliosis ISO RGD:7730597 D RGD:9068941 20200609 RGD mRNA:decreased expression:verterbra PMID:18327665|REF_RGD_ID:11354896 8892070 Hoxd11 homeobox D11 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7596412|PMID:7925020|PMID:8620844 8892070 Hoxd11 homeobox D11 gene DOID:9007364 Mouth Neoplasms ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 8892070 Hoxd11 homeobox D11 gene DOID:9008939 Breast Neoplasms ISO RGD:1346896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15818620 8892082 Mpc1l mitochondrial pyruvate carrier 1 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:6892656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8892082 Mpc1l mitochondrial pyruvate carrier 1 like gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:6892656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 8892082 Mpc1l mitochondrial pyruvate carrier 1 like gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:6892656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 8892082 Mpc1l mitochondrial pyruvate carrier 1 like gene DOID:12849 autistic disorder ISO RGD:6892656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8892082 Mpc1l mitochondrial pyruvate carrier 1 like gene DOID:630 genetic disease ISO RGD:6892656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892082 Mpc1l mitochondrial pyruvate carrier 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6892656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8892082 Mpc1l mitochondrial pyruvate carrier 1 like gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:6892656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8892088 Fam117b family with sequence similarity 117 member B gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1317004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8892088 Fam117b family with sequence similarity 117 member B gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1317004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8892088 Fam117b family with sequence similarity 117 member B gene DOID:14557 primary pulmonary hypertension ISO RGD:1317004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8892088 Fam117b family with sequence similarity 117 member B gene DOID:630 genetic disease ISO RGD:1317004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892088 Fam117b family with sequence similarity 117 member B gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1317004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8892088 Fam117b family with sequence similarity 117 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8892088 Fam117b family with sequence similarity 117 member B gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1317004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8892088 Fam117b family with sequence similarity 117 member B gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1317004 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8892100 Ucn3 urocortin 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8892100 Ucn3 urocortin 3 gene DOID:5419 schizophrenia ISO RGD:1352070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8892100 Ucn3 urocortin 3 gene DOID:630 genetic disease ISO RGD:1352070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892100 Ucn3 urocortin 3 gene DOID:850 lung disease ISO RGD:1352070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16855006 8892100 Ucn3 urocortin 3 gene DOID:9005372 Inflammation ISO RGD:1352070 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16855006 8892103 Leprotl1 leptin receptor overlapping transcript like 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8892103 Leprotl1 leptin receptor overlapping transcript like 1 gene DOID:630 genetic disease ISO RGD:1316198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892110 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1607065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:26092869 8892110 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:0050777 Joubert syndrome ISO RGD:1607065 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:24997988|PMID:26092869 8892110 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1607065 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8892110 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:0110980 Joubert syndrome 1 ISO RGD:1607065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:24997988|PMID:25741868|PMID:26092869 8892110 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:1059 intellectual disability ISO RGD:1607065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8892110 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:4501 orofaciodigital syndrome ISO RGD:1607065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997988 8892110 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:630 genetic disease ISO RGD:1607065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8892110 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1607065 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 8892110 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:9002841 Orofaciodigital Syndrome XIV ISO RGD:1607065 D RGD:7240710 20180130 OMIM 8892110 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:9002841 Orofaciodigital Syndrome XIV ISO RGD:1607065 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: C2CD3-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome xiv PMID:16199547|PMID:17576681|PMID:24997988|PMID:25741868|PMID:26092869|PMID:26477546|PMID:28492532|PMID:30097616|PMID:9536098 8892110 C2cd3 C2 domain containing 3 centriole elongation regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8892147 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1323378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8892147 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1323378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8892147 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1323378 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8892147 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1323378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8892147 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1323378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8892147 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1323378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8892147 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:630 genetic disease ISO RGD:1323378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892147 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323378 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8892147 Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 gene DOID:9870 galactosemia ISO RGD:1323378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8892161 Chic2 cysteine rich hydrophobic domain 2 gene DOID:630 genetic disease ISO RGD:1319536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892161 Chic2 cysteine rich hydrophobic domain 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1319536 D RGD:7240710 20180130 OMIM 8892171 Ezr ezrin gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8892171 Ezr ezrin gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 8892171 Ezr ezrin gene DOID:305 carcinoma ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8892171 Ezr ezrin gene DOID:630 genetic disease ISO RGD:1350208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8892171 Ezr ezrin gene DOID:8398 osteoarthritis ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8892171 Ezr ezrin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8892171 Ezr ezrin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 8892171 Ezr ezrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8892171 Ezr ezrin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:17566973|PMID:24763052 8892171 Ezr ezrin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1350208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8892193 Sbspon somatomedin B and thrombospondin type 1 domain containing gene DOID:630 genetic disease ISO RGD:1602645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892193 Sbspon somatomedin B and thrombospondin type 1 domain containing gene DOID:9005369 Hepatomegaly ISO RGD:1602645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8892207 Jagn1 jagunal homolog 1 gene DOID:0050590 severe congenital neutropenia ISO RGD:1342770 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:25129144|PMID:25741868|PMID:25851723|PMID:28492532|PMID:30044346|PMID:30443436|PMID:31031743|PMID:32419428|PMID:32888943|PMID:33206996|PMID:33718801 8892207 Jagn1 jagunal homolog 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1342770 D RGD:7240710 20180130 OMIM 8892207 Jagn1 jagunal homolog 1 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1342770 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:17576681|PMID:25129144|PMID:25741868|PMID:25851723|PMID:28492532|PMID:30044346|PMID:30443436|PMID:31031743|PMID:32419428|PMID:32888943|PMID:33206996|PMID:33718801|PMID:9536098 8892207 Jagn1 jagunal homolog 1 gene DOID:1227 neutropenia ISO RGD:1342770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25129144|PMID:25129145 8892207 Jagn1 jagunal homolog 1 gene DOID:2843 long QT syndrome ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8892207 Jagn1 jagunal homolog 1 gene DOID:630 genetic disease ISO RGD:1342770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8892207 Jagn1 jagunal homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8892207 Jagn1 jagunal homolog 1 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 8892207 Jagn1 jagunal homolog 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1342770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1316618 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:23396983|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26498160|PMID:26656175|PMID:27296017|PMID:28492532|PMID:29892087|PMID:30775854 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0050700 cardiomyopathy ISO RGD:1316618 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:23396983|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26257771|PMID:26272908|PMID:26498160|PMID:26656175|PMID:27296017|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28074886|PMID:28087566|PMID:28301460|PMID:28492532|PMID:28798025|PMID:29247119|PMID:29517769|PMID:29540472|PMID:29628476|PMID:29650543|PMID:29892087|PMID:29895960|PMID:30012837|PMID:30547036|PMID:30775854|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31514951|PMID:31737537|PMID:31983221|PMID:32187365|PMID:32840935|PMID:32851336|PMID:32880476|PMID:33134301|PMID:34540771 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0060224 atrial fibrillation ISO RGD:1316618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0060224 atrial fibrillation ISO RGD:1616733 D RGD:9068941 20220825 MouseDO 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0060319 cardiac arrest ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:22004663|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25741868|PMID:27896284|PMID:28492532|PMID:28798025 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316618 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25163546|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666|PMID:30871351 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1316618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1316618 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25163546|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666|PMID:30871351 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1316618 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29650543|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32840935|PMID:32969603|PMID:35817949 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1316618 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25351510|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29650543|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32840935|PMID:32969603|PMID:35817949 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1316618 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:25448463|PMID:25741868|PMID:26084686|PMID:28492532|PMID:29247119|PMID:29895960|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31514951 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:1316618 D RGD:7240710 20180130 OMIM 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:1316618 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD | ClinVar Annotator: match by term: RBM20-related condition PMID:16199547|PMID:17576681|PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:21846512|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23396983|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:25979592|PMID:26084686|PMID:26257771|PMID:26272908|PMID:26383259|PMID:26458567|PMID:26498160|PMID:26604136|PMID:26656175|PMID:27105042|PMID:27296017|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28074886|PMID:28087566|PMID:28254188|PMID:28254189|PMID:28301460|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28704380|PMID:28798025|PMID:29029073|PMID:29247119|PMID:29253866|PMID:29343803|PMID:29367541|PMID:29447731|PMID:29517769|PMID:29540472|PMID:29628476|PMID:29650543|PMID:29892087|PMID:29895960|PMID:29915098|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30012837|PMID:30165862|PMID:30262924|PMID:30262925|PMID:30276801|PMID:30487145|PMID:30547036|PMID:30557877|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:30993396|PMID:31198128|PMID:31317183|PMID:31333075|PMID:31376648|PMID:31514951|PMID:31568572|PMID:31583969|PMID:31638414|PMID:31648988|PMID:31737537|PMID:31785789|PMID:31918855|PMID:31983221|PMID:32187365|PMID:32344918|PMID:32674065|PMID:32746448|PMID:32789579|PMID:32789749|PMID:32817827|PMID:32840935|PMID:32851336|PMID:32880476|PMID:32969603|PMID:33019804|PMID:33029862|PMID:33134301|PMID:33188278|PMID:33450993|PMID:33552729|PMID:33662488|PMID:33996946|PMID:34174465|PMID:34333030|PMID:34486814|PMID:34540771|PMID:34823266|PMID:35352813|PMID:35470680|PMID:35653365|PMID:35817949|PMID:35893073|PMID:36303204|PMID:36417486|PMID:9536098 8892214 Rbm20 RNA binding motif protein 20 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:19712804|PMID:20590677|PMID:22004663|PMID:22466703|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:29253866|PMID:29367541|PMID:29650543|PMID:30847666|PMID:30871348|PMID:31737537|PMID:32840935|PMID:32969603 8892214 Rbm20 RNA binding motif protein 20 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22004663|PMID:24033266|PMID:24503780|PMID:25637381|PMID:25741868|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29650543|PMID:29895960|PMID:30847666|PMID:30871348|PMID:32187365|PMID:32840935 8892214 Rbm20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29540472|PMID:29650543|PMID:30012837|PMID:30871348|PMID:30871351|PMID:31333075|PMID:31568572|PMID:32789749|PMID:32880476 8892214 Rbm20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29540472|PMID:29650543|PMID:30012837|PMID:30871348|PMID:30871351|PMID:31333075|PMID:31568572|PMID:32789749|PMID:32880476|PMID:34540771 8892214 Rbm20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29367541|PMID:29540472|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30487145|PMID:30547036|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789749|PMID:32840935|PMID:32880476|PMID:32969603|PMID:33134301|PMID:33662488|PMID:34174465|PMID:34540771|PMID:35817949 8892214 Rbm20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316618 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18585512|PMID:19712804|PMID:20590677|PMID:21483645|PMID:22004663|PMID:22466703|PMID:22561820|PMID:23861363|PMID:23886709|PMID:24033266|PMID:24503780|PMID:24584570|PMID:25163546|PMID:25351510|PMID:25448463|PMID:25637381|PMID:25741868|PMID:26084686|PMID:26458567|PMID:26604136|PMID:27105042|PMID:27496873|PMID:27531932|PMID:27532257|PMID:27650965|PMID:27896284|PMID:28492532|PMID:28798025|PMID:29029073|PMID:29253866|PMID:29343803|PMID:29367541|PMID:29540472|PMID:29650543|PMID:29895960|PMID:30012837|PMID:30165862|PMID:30487145|PMID:30547036|PMID:30847666|PMID:30871348|PMID:30871351|PMID:30972196|PMID:31317183|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31918855|PMID:32187365|PMID:32789749|PMID:32840935|PMID:32880476|PMID:32969603|PMID:33134301|PMID:33662488|PMID:34174465|PMID:34540771|PMID:35653365|PMID:35817949 8892214 Rbm20 RNA binding motif protein 20 gene DOID:12930 dilated cardiomyopathy severity ISO RGD:1316618 D RGD:9068941 20221110 RGD DNA:missense mutations:exon 9:multiple (human) PMID:19712804|REF_RGD_ID:11067476 8892214 Rbm20 RNA binding motif protein 20 gene DOID:2843 long QT syndrome ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:22004663|PMID:23396983|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26498160|PMID:26656175|PMID:27296017|PMID:28492532|PMID:30775854 8892214 Rbm20 RNA binding motif protein 20 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8892214 Rbm20 RNA binding motif protein 20 gene DOID:6000 congestive heart failure ISO RGD:1316618 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heart failure PMID:25741868|PMID:28492532|PMID:31376648 8892214 Rbm20 RNA binding motif protein 20 gene DOID:630 genetic disease ISO RGD:1316618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8892214 Rbm20 RNA binding motif protein 20 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1316618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:24503780|PMID:25741868|PMID:27496873|PMID:27531932|PMID:27532257|PMID:28492532|PMID:29650543|PMID:29895960|PMID:30547036|PMID:30871348|PMID:30871351|PMID:32187365|PMID:32840935|PMID:33134301|PMID:34540771 8892214 Rbm20 RNA binding motif protein 20 gene DOID:9003163 Heart Block ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:24033266|PMID:25741868|PMID:28492532 8892214 Rbm20 RNA binding motif protein 20 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1316618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:28492532 8892214 Rbm20 RNA binding motif protein 20 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1316618 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:24033266|PMID:25741868|PMID:28492532 8892238 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 8892238 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 8892238 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8892238 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:0090069 giant axonal neuropathy 2 ISO RGD:1349472 D RGD:7240710 20180130 OMIM 8892238 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:0090069 giant axonal neuropathy 2 ISO RGD:1349472 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 2 PMID:24500646|PMID:25741868|PMID:28492532|PMID:3859241 8892238 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8892238 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:630 genetic disease ISO RGD:1349472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892238 Dcaf8 DDB1 and CUL4 associated factor 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8892272 Brinp2 BMP/retinoic acid inducible neural specific 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1605645 D RGD:9068941 20200609 RGD DNA:amplication:oral epithelium PMID:21334929|REF_RGD_ID:14398483 8892272 Brinp2 BMP/retinoic acid inducible neural specific 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8892272 Brinp2 BMP/retinoic acid inducible neural specific 2 gene DOID:630 genetic disease ISO RGD:1605645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892272 Brinp2 BMP/retinoic acid inducible neural specific 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8892272 Brinp2 BMP/retinoic acid inducible neural specific 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8892287 Lcp1 lymphocyte cytosolic protein 1 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1317977 D RGD:9068941 20231102 RGD DNA:SNP:: (rs1886040) (human) PMID:18438686|REF_RGD_ID:401851917 8892287 Lcp1 lymphocyte cytosolic protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8892287 Lcp1 lymphocyte cytosolic protein 1 gene DOID:630 genetic disease ISO RGD:1317977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892287 Lcp1 lymphocyte cytosolic protein 1 gene DOID:9000955 Acute Otitis Media IEP D RGD:11553828|PMID:26711468 20161013 RGD mRNA, protein:increased expression:mucosa of middle ear 8892287 Lcp1 lymphocyte cytosolic protein 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1317977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8892287 Lcp1 lymphocyte cytosolic protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8892307 Slc25a11 solute carrier family 25 member 11 gene DOID:0050941 spastic ataxia 2 ISO RGD:732504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 8892307 Slc25a11 solute carrier family 25 member 11 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:732504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 8892307 Slc25a11 solute carrier family 25 member 11 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8892307 Slc25a11 solute carrier family 25 member 11 gene DOID:630 genetic disease ISO RGD:732504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8892307 Slc25a11 solute carrier family 25 member 11 gene DOID:9005512 Paragangliomas 6 ISO RGD:732504 D RGD:7240710 20190710 OMIM 8892307 Slc25a11 solute carrier family 25 member 11 gene DOID:9005512 Paragangliomas 6 ISO RGD:732504 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Paragangliomas 6 PMID:29431636 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:0110851 rhizomelic chondrodysplasia punctata type 1 ISO RGD:1318278 D RGD:7240710 20180130 OMIM 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:0110851 rhizomelic chondrodysplasia punctata type 1 ISO RGD:1318278 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 PMID:10083738|PMID:10527683|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17325280|PMID:17576681|PMID:1773541|PMID:20145307|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:22057399|PMID:23352163|PMID:23572185|PMID:24172221|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:31964843|PMID:31980526|PMID:34229749|PMID:34671977|PMID:8295403|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9472033|PMID:9536098|PMID:9686382 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:0111955 immunodeficiency 27A ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:10582 Refsum disease ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phytanic acid storage disease PMID:10083738|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:14974078|PMID:1773541|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26467025|PMID:26587300|PMID:28492532|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9686382 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:10582 Refsum disease ISO RGD:1318278 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Phytanic acid storage disease PMID:10083738|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17576681|PMID:1773541|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:31964843|PMID:31980526|PMID:32483926|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9536098|PMID:9686382 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:1059 intellectual disability ISO RGD:1318278 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:1318278 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:10083738|PMID:10527683|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:14974078|PMID:17325280|PMID:17576681|PMID:1773541|PMID:20145307|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:23572185|PMID:24172221|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:31964843|PMID:31980526|PMID:32483926|PMID:8295403|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9472033|PMID:9536098|PMID:9686382 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:630 genetic disease ISO RGD:1318278 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10527683|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:17576681|PMID:20145307|PMID:20301447|PMID:23572185|PMID:24172221|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32483926|PMID:9090381|PMID:9472033|PMID:9536098 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:65 connective tissue disease ISO RGD:1318278 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:12325024|PMID:12522768|PMID:20301447|PMID:25741868|PMID:26467025|PMID:28492532 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1318278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1318278 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:9006365 Adult Refsum Disease, 2 ISO RGD:1318278 D RGD:7240710 20180130 OMIM 8892327 Pex7 peroxisomal biogenesis factor 7 gene DOID:9006365 Adult Refsum Disease, 2 ISO RGD:1318278 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:10083738|PMID:10527683|PMID:10673331|PMID:11756410|PMID:11781871|PMID:12054588|PMID:12325024|PMID:12522768|PMID:14974078|PMID:16199547|PMID:17325280|PMID:17576681|PMID:1773541|PMID:20145307|PMID:20301447|PMID:21465523|PMID:21990100|PMID:22008564|PMID:22057399|PMID:23352163|PMID:23462609|PMID:23572185|PMID:24172221|PMID:25640679|PMID:25741868|PMID:25800479|PMID:25851898|PMID:26408048|PMID:26467025|PMID:26587300|PMID:28492532|PMID:31964843|PMID:31980526|PMID:32483926|PMID:34229749|PMID:34671977|PMID:8295403|PMID:9090381|PMID:9090382|PMID:9090383|PMID:9472033|PMID:9536098|PMID:9686382 8892349 Tsnare1 t-SNARE domain containing 1 gene DOID:630 genetic disease ISO RGD:1606429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0050120 hemophagocytic lymphohistiocytosis ISO RGD:734036 D RGD:9068941 20220825 MouseDO 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy PMID:26392352|PMID:28492532 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:7240710 20211020 OMIM 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:18303054|PMID:22975760|PMID:24173031|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29289840|PMID:32296180 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0050902 medulloblastoma ISO RGD:734035 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:24173031|PMID:25741868|PMID:26392352|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29762696|PMID:32296180|PMID:9536098 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0060249 scoliosis ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:11097445|REF_RGD_ID:5129159 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:734035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16964593|PMID:17206408|PMID:18091349|PMID:18197058|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29290691|PMID:9536098 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734035 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18091349|PMID:18197058|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29290691|PMID:29762696|PMID:9536098 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:11589 Riley-Day syndrome ISO RGD:734035 D RGD:7240710 20180130 OMIM 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:11589 Riley-Day syndrome ISO RGD:734035 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial dysautonomia PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16199547|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18091349|PMID:18197058|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:24173031|PMID:24995671|PMID:25741868|PMID:26264438|PMID:26392352|PMID:27065010|PMID:27104957|PMID:27582484|PMID:28492532|PMID:29289840|PMID:29290691|PMID:29762696|PMID:32296180|PMID:34687117|PMID:9536098 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:1926 Gaucher's disease ISO RGD:734035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:28492532 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:2841 asthma ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:11281413|REF_RGD_ID:5129157 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:2841 asthma no_association ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:12774215|REF_RGD_ID:5129158 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:4667 kyphosis ISO RGD:734035 D RGD:9068941 20200609 RGD PMID:11097445|REF_RGD_ID:5129159 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:630 genetic disease ISO RGD:734035 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11179008|PMID:11179021|PMID:12116234|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:23515154|PMID:24033266|PMID:24173031|PMID:24995671|PMID:25741868|PMID:26264438|PMID:26392352|PMID:27065010|PMID:27582484|PMID:28492532|PMID:29762696|PMID:34687117|PMID:9536098 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:734035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 8892359 Elp1 elongator acetyltransferase complex subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:734035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 8892407 Pigb phosphatidylinositol glycan anchor biosynthesis class B gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:10835631|PMID:23160464|PMID:28492532 8892407 Pigb phosphatidylinositol glycan anchor biosynthesis class B gene DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 PMID:25326635|PMID:25741868|PMID:31256876 8892407 Pigb phosphatidylinositol glycan anchor biosynthesis class B gene DOID:0112216 developmental and epileptic encephalopathy 80 ISO RGD:1316334 D RGD:7240710 20191002 OMIM 8892407 Pigb phosphatidylinositol glycan anchor biosynthesis class B gene DOID:0112216 developmental and epileptic encephalopathy 80 ISO RGD:1316334 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 PMID:16199547|PMID:17343268|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31256876|PMID:32123317|PMID:34400385 8892407 Pigb phosphatidylinositol glycan anchor biosynthesis class B gene DOID:2717 Bloom syndrome ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8892407 Pigb phosphatidylinositol glycan anchor biosynthesis class B gene DOID:630 genetic disease ISO RGD:1316334 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8892407 Pigb phosphatidylinositol glycan anchor biosynthesis class B gene DOID:9256 colorectal cancer ISO RGD:1316334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8892420 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1346289 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8892420 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8892420 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:1342 congenital hypoplastic anemia ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8892420 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:2340 craniosynostosis ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8892420 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:630 genetic disease ISO RGD:1346289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892420 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8892420 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:9269 maple syrup urine disease ISO RGD:1346289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8892420 Supt5h SPT5 homolog, DSIF elongation factor subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8892458 Aldh6a1 aldehyde dehydrogenase 6 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344188 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8892458 Aldh6a1 aldehyde dehydrogenase 6 family member A1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1344188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 8892458 Aldh6a1 aldehyde dehydrogenase 6 family member A1 gene DOID:1059 intellectual disability ISO RGD:1344188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8892458 Aldh6a1 aldehyde dehydrogenase 6 family member A1 gene DOID:630 genetic disease ISO RGD:1344188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8892458 Aldh6a1 aldehyde dehydrogenase 6 family member A1 gene DOID:9006567 Methylmalonate Semialdehyde Dehydrogenase Deficiency ISO RGD:1344188 D RGD:7240710 20180130 OMIM 8892458 Aldh6a1 aldehyde dehydrogenase 6 family member A1 gene DOID:9006567 Methylmalonate Semialdehyde Dehydrogenase Deficiency ISO RGD:1344188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency PMID:10947204|PMID:11446412|PMID:21863277|PMID:23835272|PMID:25741868|PMID:28492532|PMID:3117077|PMID:32151545|PMID:3939535 8892458 Aldh6a1 aldehyde dehydrogenase 6 family member A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1344188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8892458 Aldh6a1 aldehyde dehydrogenase 6 family member A1 gene DOID:9252 amino acid metabolic disorder ISO RGD:1344188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10947204 8892458 Aldh6a1 aldehyde dehydrogenase 6 family member A1 gene DOID:9970 obesity ISO RGD:1344188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8892486 Postn periostin gene DOID:0060500 drug allergy ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 8892486 Postn periostin gene DOID:0080010 bone structure disease ISO RGD:1313224 D RGD:9068941 20220825 MouseDO 8892486 Postn periostin gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 8892486 Postn periostin gene DOID:10763 hypertension ISO RGD:1305285 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:left ventricle: PMID:21712488|REF_RGD_ID:10041050 8892486 Postn periostin gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363622 8892486 Postn periostin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 8892486 Postn periostin gene DOID:1474 aggressive periodontitis ISO RGD:1313224 D RGD:9068941 20220825 MouseDO OMIM:170650 | OMIM:608526 8892486 Postn periostin gene DOID:5082 liver cirrhosis ISO RGD:1313223 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32344006 8892486 Postn periostin gene DOID:5199 ureteral obstruction ISO RGD:1313224 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:22167593|REF_RGD_ID:10040972 8892486 Postn periostin gene DOID:5844 myocardial infarction ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:24212842|REF_RGD_ID:10041024 8892486 Postn periostin gene DOID:6000 congestive heart failure treatment ISO RGD:1305285 D RGD:9068941 20200609 RGD PMID:15381649|REF_RGD_ID:10040999 8892486 Postn periostin gene DOID:6000 congestive heart failure treatment ISO RGD:1313223 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16414453|REF_RGD_ID:10040951 8892486 Postn periostin gene DOID:630 genetic disease ISO RGD:1313223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892486 Postn periostin gene DOID:7693 abdominal aortic aneurysm ISO RGD:1313223 D RGD:9068941 20200609 RGD protein:increased expression:aorta: PMID:24260297|REF_RGD_ID:10041046 8892486 Postn periostin gene DOID:7693 abdominal aortic aneurysm ISO RGD:1313224 D RGD:9068941 20200609 RGD protein:increased expression:aorta: PMID:24260297|REF_RGD_ID:10041046 8892486 Postn periostin gene DOID:783 end stage renal disease ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased secretion:kidney,urine: PMID:22167593|REF_RGD_ID:10040972 8892486 Postn periostin gene DOID:784 chronic kidney disease ISO RGD:1313223 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:22403621|REF_RGD_ID:10041032 8892486 Postn periostin gene DOID:784 chronic kidney disease ISO RGD:1313223 D RGD:9068941 20200609 RGD protein:increased secretion:urine: PMID:22167593|REF_RGD_ID:10040972 8892486 Postn periostin gene DOID:824 periodontitis ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:decreased expression:mandible: PMID:24212842|REF_RGD_ID:10041024 8892486 Postn periostin gene DOID:90 degenerative disc disease ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:tail intervertebral disc: PMID:23453657|REF_RGD_ID:10040995 8892486 Postn periostin gene DOID:90 degenerative disc disease ISO RGD:1313223 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nucleus pulposus: PMID:23453657|REF_RGD_ID:10040995 8892486 Postn periostin gene DOID:9001600 Wounds and Injuries ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:22681660|REF_RGD_ID:10040991 8892486 Postn periostin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1313224 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:22167593|REF_RGD_ID:10040972 8892486 Postn periostin gene DOID:9003234 Hypertensive Nephropathy disease_progression ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:22403621|REF_RGD_ID:10041032 8892486 Postn periostin gene DOID:9003936 Cardiomegaly severity ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:left ventricle: PMID:16414453|REF_RGD_ID:10040951 8892486 Postn periostin gene DOID:9004498 Cumulative Trauma Disorders ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:tendon,muscle,nerve: PMID:19620321|REF_RGD_ID:10040958 8892486 Postn periostin gene DOID:9006182 Carotid Artery Injuries ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:artery: PMID:15514205|REF_RGD_ID:10040973 8892486 Postn periostin gene DOID:9006928 Viral Bronchiolitis ISO RGD:1313223 D RGD:9068941 20201023 RGD mRNA,protein:increased expression:nasal mucus PMID:28471975|REF_RGD_ID:38596342 8892486 Postn periostin gene DOID:9007039 Ventricular Dysfunction ISO RGD:1305285 D RGD:9068941 20200609 RGD PMID:15381649|REF_RGD_ID:10040999 8892486 Postn periostin gene DOID:9007621 Craniocerebral Trauma ISO RGD:1305285 D RGD:9068941 20200609 RGD PMID:17878602|REF_RGD_ID:10041014 8892486 Postn periostin gene DOID:9008331 Tendon Injuries ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:achilles tendon: PMID:23149902|REF_RGD_ID:10041033 8892486 Postn periostin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15731169 8892486 Postn periostin gene DOID:9008763 Femoral Fractures ISO RGD:1305285 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bone: PMID:19006175|REF_RGD_ID:10040956 8892486 Postn periostin gene DOID:971 tendinitis ISO RGD:1305285 D RGD:9068941 20200609 RGD protein:increased expression:peritendon: PMID:19743505|REF_RGD_ID:2314473 8892522 Rab8a RAB8A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1354512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892522 Rab8a RAB8A, member RAS oncogene family gene DOID:7148 rheumatoid arthritis ISO RGD:1354512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 8892538 Dbi diazepam binding inhibitor, acyl-CoA binding protein gene DOID:305 carcinoma ISO RGD:736302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8892538 Dbi diazepam binding inhibitor, acyl-CoA binding protein gene DOID:630 genetic disease ISO RGD:736302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892538 Dbi diazepam binding inhibitor, acyl-CoA binding protein gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8892538 Dbi diazepam binding inhibitor, acyl-CoA binding protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732972 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:31209396|PMID:35663546 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:0060650 dicarboxylic aminoaciduria ISO RGD:732972 D RGD:7240710 20240313 OMIM 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:0060650 dicarboxylic aminoaciduria ISO RGD:732972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dicarboxylic aminoaciduria PMID:21123949|PMID:25741868|PMID:28492532 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:732972 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:0070093 schizophrenia 18 ISO RGD:732972 D RGD:7240710 20240313 OMIM 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:0070093 schizophrenia 18 ISO RGD:732972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia 18 PMID:23341099 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11906504 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:13544 low tension glaucoma ISO RGD:11301 D RGD:9068941 20220825 MouseDO OMIM:606657 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:13544 low tension glaucoma ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28703795 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:1561 cognitive disorder ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22575539 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:1826 epilepsy ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151515 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:289 endometriosis ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11906504 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:4752 multiple system atrophy ISO RGD:11301 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:4752 multiple system atrophy ISO RGD:732972 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:24304186|REF_RGD_ID:11553929 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:5419 schizophrenia ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:630 genetic disease ISO RGD:732972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:8466 retinal degeneration ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28703795 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:9002955 Nerve Degeneration ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28703795 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:9004462 Atrophy ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22575539 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:732972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 8892558 Slc1a1 solute carrier family 1 member 1 gene DOID:936 brain disease ISO RGD:732972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22575539 8892574 LOC102024671 translational activator of cytochrome c oxidase 1 gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:1602721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:19503089|PMID:20727754|PMID:25741868 8892574 LOC102024671 translational activator of cytochrome c oxidase 1 gene DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 ISO RGD:1602721 D RGD:7240710 20201111 OMIM 8892574 LOC102024671 translational activator of cytochrome c oxidase 1 gene DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 ISO RGD:1602721 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 PMID:16199547|PMID:19503089|PMID:20727754|PMID:25044680|PMID:25741868|PMID:28492532 8892574 LOC102024671 translational activator of cytochrome c oxidase 1 gene DOID:3652 Leigh disease ISO RGD:1602721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19503089 8892574 LOC102024671 translational activator of cytochrome c oxidase 1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1602721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:19503089|PMID:20727754|PMID:25741868|PMID:28492532 8892574 LOC102024671 translational activator of cytochrome c oxidase 1 gene DOID:630 genetic disease ISO RGD:1602721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0050585 congenital generalized lipodystrophy ISO RGD:1319453 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy PMID:19226263|PMID:24498038|PMID:25741868 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1319453 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1319453 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0111135 congenital generalized lipodystrophy type 1 ISO RGD:1319453 D RGD:7240710 20180314 OMIM 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:0111135 congenital generalized lipodystrophy type 1 ISO RGD:1319453 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 1 PMID:11967537|PMID:12765973|PMID:14557463|PMID:14715872|PMID:15181077|PMID:15629135|PMID:18414213|PMID:18640396|PMID:19026526|PMID:21744063|PMID:22831748|PMID:24498038|PMID:25195639|PMID:25741868|PMID:26072926|PMID:26336158|PMID:27144933|PMID:28492532|PMID:30319454|PMID:31416577|PMID:31778856|PMID:32041611|PMID:32117065|PMID:32280377|PMID:34318892 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:10283 prostate cancer ISO RGD:1319453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:1826 epilepsy ISO RGD:1319453 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:3652 Leigh disease ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:630 genetic disease ISO RGD:1319453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:811 lipodystrophy susceptibility ISO RGD:1319453 D RGD:9068941 20200609 RGD PMID:11967537|REF_RGD_ID:1598785 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8892606 Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 gene DOID:9351 diabetes mellitus ISO RGD:1319453 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:22831748|PMID:25741868|PMID:26336158|PMID:28492532|PMID:30319454|PMID:32041611 8892616 Hoxa4 homeobox A4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8892616 Hoxa4 homeobox A4 gene DOID:630 genetic disease ISO RGD:736245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892623 Rasa3 RAS p21 protein activator 3 gene DOID:12449 aplastic anemia ISO RGD:737295 D RGD:9068941 20220825 MouseDO OMIM:609135 8892623 Rasa3 RAS p21 protein activator 3 gene DOID:2222 factor X deficiency ISO RGD:1343935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8892623 Rasa3 RAS p21 protein activator 3 gene DOID:630 genetic disease ISO RGD:1343935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892623 Rasa3 RAS p21 protein activator 3 gene DOID:9007661 Dwarfism ISO RGD:1343935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8892681 Abhd8 abhydrolase domain containing 8 gene DOID:630 genetic disease ISO RGD:1313870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28659334 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:0080395 orofacial cleft 1 ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21637507 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:0080600 COVID-19 ISO RGD:1319880 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29107063|PMID:30319691|PMID:30320580 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319880 D RGD:9068941 20200609 RGD DNA:SNP: :rs6859 (human) PMID:22159054|REF_RGD_ID:6484658 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:11054 urinary bladder cancer ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29321541 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:14330 Parkinson's disease ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:1936 atherosclerosis ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28062492 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:1969 cerebral palsy ISO RGD:1319880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:2377 multiple sclerosis ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16738668 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:2377 multiple sclerosis no_association ISO RGD:1319880 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:17376543|REF_RGD_ID:6767565 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:2377 multiple sclerosis severity ISO RGD:1319880 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:c.89-104C>T (rs394221) (human) PMID:16738668|REF_RGD_ID:6767558 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:418 systemic scleroderma ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1319880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:8566 herpes simplex ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10729168|PMID:11602758|PMID:30319691 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29321541 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30614027 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:9002321 Teratozoospermia ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28689229 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23758976 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:9003370 Dyslipidemias ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29670124 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23758976 8892690 Nectin2 nectin cell adhesion molecule 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1319880 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29855615 8892715 Dus4l dihydrouridine synthase 4 like gene DOID:0070261 congenital disorder of glycosylation type IIi ISO RGD:1602492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG5-CDG PMID:23228021|PMID:25741868|PMID:28492532 8892715 Dus4l dihydrouridine synthase 4 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8892715 Dus4l dihydrouridine synthase 4 like gene DOID:5212 congenital disorder of glycosylation ISO RGD:1602492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 8892715 Dus4l dihydrouridine synthase 4 like gene DOID:630 genetic disease ISO RGD:1602492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892747 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8892747 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1319518 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8892747 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8892747 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:630 genetic disease ISO RGD:1319518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892747 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:8445 intestinal volvulus ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8892747 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8892747 Nsun5 NOP2/Sun RNA methyltransferase 5 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1319518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8892781 Prrg3 proline rich and Gla domain 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8892781 Prrg3 proline rich and Gla domain 3 gene DOID:12849 autistic disorder ISO RGD:1343058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8892781 Prrg3 proline rich and Gla domain 3 gene DOID:630 genetic disease ISO RGD:1343058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892796 Tnfaip8l3 TNF alpha induced protein 8 like 3 gene DOID:2717 Bloom syndrome ISO RGD:1604925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8892796 Tnfaip8l3 TNF alpha induced protein 8 like 3 gene DOID:607 paraplegia ISO RGD:1604925 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 8892796 Tnfaip8l3 TNF alpha induced protein 8 like 3 gene DOID:630 genetic disease ISO RGD:1604925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892796 Tnfaip8l3 TNF alpha induced protein 8 like 3 gene DOID:9256 colorectal cancer ISO RGD:1604925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8892808 Park7 Parkinsonism associated deglycase gene DOID:0060368 Parkinson's disease 2 ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:25741868 8892808 Park7 Parkinsonism associated deglycase gene DOID:0060369 Parkinson's disease 6 ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 PMID:16632486 8892808 Park7 Parkinsonism associated deglycase gene DOID:0060370 Parkinson's disease 7 ISO RGD:1344212 D RGD:7240710 20180130 OMIM 8892808 Park7 Parkinsonism associated deglycase gene DOID:0060370 Parkinson's disease 7 ISO RGD:1344212 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 7 PMID:12446870|PMID:12891675|PMID:12891685|PMID:12953260|PMID:14662519|PMID:14705128|PMID:14872018|PMID:15219840|PMID:15254937|PMID:15365989|PMID:15790532|PMID:15944198|PMID:16997464|PMID:17576681|PMID:18181649|PMID:1818649|PMID:18436956|PMID:18436965|PMID:18973254|PMID:19405094|PMID:19429112|PMID:20639397|PMID:20806408|PMID:20981092|PMID:21532868|PMID:22173095|PMID:22428580|PMID:22492997|PMID:22960331|PMID:22995991|PMID:23183826|PMID:23241025|PMID:23792957|PMID:23881933|PMID:25741868|PMID:26274610|PMID:26467025|PMID:27085187|PMID:27094865|PMID:27270837|PMID:27294386|PMID:27592010|PMID:27884173|PMID:28492532|PMID:28993701|PMID:29599708|PMID:29887346|PMID:31028127|PMID:31182772|PMID:32144268|PMID:33795807|PMID:35893043|PMID:36609826|PMID:9536098 8892808 Park7 Parkinsonism associated deglycase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344212 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8892808 Park7 Parkinsonism associated deglycase gene DOID:0060892 late onset Parkinson's disease ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset 8892808 Park7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Juvenile 8892808 Park7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism treatment ISO RGD:1344212 D RGD:9068941 20200609 RGD PMID:16860563|REF_RGD_ID:1601076 8892808 Park7 Parkinsonism associated deglycase gene DOID:0080855 Parkinsonism treatment ISO RGD:621808 D RGD:9068941 20200609 RGD PMID:18373560|PMID:22041943|REF_RGD_ID:13462067|REF_RGD_ID:13463452 8892808 Park7 Parkinsonism associated deglycase gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:12891685|PMID:14662519|PMID:14705128|PMID:14872018|PMID:15219840|PMID:15790532|PMID:16997464|PMID:19429112|PMID:22173095|PMID:22428580|PMID:22960331|PMID:22995991|PMID:25741868|PMID:26274610|PMID:26467025|PMID:27294386|PMID:27592010|PMID:28492532 8892808 Park7 Parkinsonism associated deglycase gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Guam disease PMID:25741868 8892808 Park7 Parkinsonism associated deglycase gene DOID:11476 osteoporosis ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8892808 Park7 Parkinsonism associated deglycase gene DOID:14330 Parkinson's disease ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive PMID:12953260|PMID:20981092|PMID:26467025|PMID:27884173|PMID:28492532 8892808 Park7 Parkinsonism associated deglycase gene DOID:14330 Parkinson's disease onset ISO RGD:1344212 D RGD:9068941 20200609 RGD DNA:missense mutation, deletion: :L166P PMID:12851414|REF_RGD_ID:1601073 8892808 Park7 Parkinsonism associated deglycase gene DOID:231 motor neuron disease ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:25741868 8892808 Park7 Parkinsonism associated deglycase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1344212 D RGD:9068941 20200609 RGD PMID:17882163|REF_RGD_ID:13463450 8892808 Park7 Parkinsonism associated deglycase gene DOID:3526 cerebral infarction ISO RGD:1552781 D RGD:9068941 20200609 RGD PMID:18003894|REF_RGD_ID:13462069 8892808 Park7 Parkinsonism associated deglycase gene DOID:3526 cerebral infarction treatment ISO RGD:1344212 D RGD:9068941 20200609 RGD PMID:18003894|REF_RGD_ID:13462069 8892808 Park7 Parkinsonism associated deglycase gene DOID:630 genetic disease ISO RGD:1344212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892808 Park7 Parkinsonism associated deglycase gene DOID:684 hepatocellular carcinoma ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8892808 Park7 Parkinsonism associated deglycase gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 8892808 Park7 Parkinsonism associated deglycase gene DOID:9000582 Reticulocytosis ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20800516 8892808 Park7 Parkinsonism associated deglycase gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates ISO RGD:621808 D RGD:9068941 20220128 RGD PMID:29069575|REF_RGD_ID:151347449 8892808 Park7 Parkinsonism associated deglycase gene DOID:9002955 Nerve Degeneration ISO RGD:1344212 D RGD:9068941 20201106 CTD CTD Direct Evidence: therapeutic PMID:29649621 8892808 Park7 Parkinsonism associated deglycase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8892808 Park7 Parkinsonism associated deglycase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8892831 Rack1 receptor for activated C kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8892831 Rack1 receptor for activated C kinase 1 gene DOID:224 transient cerebral ischemia ISO RGD:69229 D RGD:9068941 20200609 RGD PMID:24007266|REF_RGD_ID:9588303 8892831 Rack1 receptor for activated C kinase 1 gene DOID:2560 morphine dependence ISO RGD:735946 D RGD:9068941 20231228 RGD mRNA, protein:increased expression:hippocampus, prefrontal cortex PMID:19341783|REF_RGD_ID:401940119 8892831 Rack1 receptor for activated C kinase 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:733289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:0060017 CD3epsilon deficiency ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:0080690 RASopathy ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:0111123 nephronophthisis 15 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:0111971 immunodeficiency 18 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:0111972 immunodeficiency 19 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:0111973 immunodeficiency 17 ISO RGD:735925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:1059 intellectual disability ISO RGD:735925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:10652 Alzheimer's disease ISO RGD:735925 D RGD:9068941 20200609 RGD PMID:19760337|REF_RGD_ID:13801191 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:10652 Alzheimer's disease ISO RGD:735926 D RGD:9068941 20200609 RGD PMID:19760337|REF_RGD_ID:13801191 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:630 genetic disease ISO RGD:735925 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:9007661 Dwarfism ISO RGD:735925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8892843 Fxyd6 FXYD domain containing ion transport regulator 6 gene DOID:9119 acute myeloid leukemia ISO RGD:735925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8892859 Cck cholecystokinin gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:737505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8892859 Cck cholecystokinin gene DOID:10808 gastric ulcer ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10422768|PMID:10458643|PMID:11025360|PMID:11787760|PMID:15024038|PMID:9872509 8892859 Cck cholecystokinin gene DOID:11981 morbid obesity ISO RGD:737505 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:associated with Metabolic Syndrome X (MeSH:D024821) PMID:17443025|REF_RGD_ID:1625798 8892859 Cck cholecystokinin gene DOID:14330 Parkinson's disease no_association ISO RGD:737505 D RGD:9068941 20200609 RGD PMID:10668930|REF_RGD_ID:1626086 8892859 Cck cholecystokinin gene DOID:3602 toxic encephalopathy ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8892859 Cck cholecystokinin gene DOID:409 liver disease ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8892859 Cck cholecystokinin gene DOID:4989 pancreatitis ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16187300|PMID:16499907 8892859 Cck cholecystokinin gene DOID:630 genetic disease ISO RGD:737505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892859 Cck cholecystokinin gene DOID:77 gastrointestinal system disease ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7481522 8892859 Cck cholecystokinin gene DOID:83 cataract ISO RGD:2288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16989746|REF_RGD_ID:2313636 8892859 Cck cholecystokinin gene DOID:9000641 Pain ISO RGD:2288 D RGD:9068941 20200609 RGD PMID:17157334|REF_RGD_ID:2313635 8892859 Cck cholecystokinin gene DOID:9000972 Fever ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27565679 8892859 Cck cholecystokinin gene DOID:9001109 Anorexia ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22903826|PMID:24385417 8892859 Cck cholecystokinin gene DOID:9002211 Hyperalgesia ISO RGD:2288 D RGD:9068941 20200609 RGD PMID:15647484|REF_RGD_ID:1626108 8892859 Cck cholecystokinin gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27565679 8892859 Cck cholecystokinin gene DOID:9002362 Hyperkinesis ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3561887|PMID:3735805 8892859 Cck cholecystokinin gene DOID:9003126 Hallucinations ISO RGD:737505 D RGD:9068941 20200609 RGD associated with Parkinson Disease;DNA:polymorphism, haplogype:promoter:-45C>T (human) PMID:12777967|REF_RGD_ID:1625802 8892859 Cck cholecystokinin gene DOID:9003805 Catalepsy ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2862602|PMID:4040614 8892859 Cck cholecystokinin gene DOID:9004099 Bulimia ISO RGD:737505 D RGD:9068941 20200609 RGD protein:decreased expression:blood:decreased postprandial release PMID:8988922|REF_RGD_ID:1625799 8892859 Cck cholecystokinin gene DOID:9005372 Inflammation ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14599722 8892859 Cck cholecystokinin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2288 D RGD:9068941 20200609 RGD PMID:15536283|REF_RGD_ID:2313638 8892859 Cck cholecystokinin gene DOID:9006113 Gallstones ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1631261 8892859 Cck cholecystokinin gene DOID:9006646 Metabolic Syndrome ISO RGD:737505 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:associated with Obesity, Morbid (MeSH:D009767) PMID:17443025|REF_RGD_ID:1625798 8892859 Cck cholecystokinin gene DOID:9007650 Unconsciousness ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6281507 8892859 Cck cholecystokinin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:737505 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2320253 8892866 Telo2 telomere maintenance 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8892866 Telo2 telomere maintenance 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605097 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532|PMID:29688594 8892866 Telo2 telomere maintenance 2 gene DOID:10907 microcephaly ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8892866 Telo2 telomere maintenance 2 gene DOID:1826 epilepsy ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8892866 Telo2 telomere maintenance 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8892866 Telo2 telomere maintenance 2 gene DOID:630 genetic disease ISO RGD:1605097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8892866 Telo2 telomere maintenance 2 gene DOID:9008826 YOU-HOOVER-FONG SYNDROME ISO RGD:1605097 D RGD:7240710 20190315 OMIM 8892866 Telo2 telomere maintenance 2 gene DOID:9008826 YOU-HOOVER-FONG SYNDROME ISO RGD:1605097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder PMID:24033266|PMID:25741868|PMID:27132593|PMID:28492532|PMID:32940098 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:0080600 COVID-19 ISO RGD:1314403 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1314403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:0112317 Schindler disease ISO RGD:1314403 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:17171432|PMID:19683538|PMID:2243144|PMID:23045655|PMID:2372288|PMID:24033266|PMID:25741868|PMID:27138754|PMID:28492532|PMID:2889023|PMID:29431110|PMID:30487145|PMID:31980526|PMID:32860008|PMID:34670123|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:0112318 Schindler disease type 1 ISO RGD:1314403 D RGD:7240710 20180130 OMIM 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:0112318 Schindler disease type 1 ISO RGD:1314403 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:16199547|PMID:17171432|PMID:17576681|PMID:18414213|PMID:19683538|PMID:19763152|PMID:20307669|PMID:22406018|PMID:2243144|PMID:23045655|PMID:2372288|PMID:24033266|PMID:24767253|PMID:25741868|PMID:27138754|PMID:28252636|PMID:28492532|PMID:2889023|PMID:29431110|PMID:30487145|PMID:31980526|PMID:32860008|PMID:34670123|PMID:34867278|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044|PMID:9536098 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:0112319 Kanzaki disease ISO RGD:1314403 D RGD:7240710 20211013 OMIM 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:0112319 Kanzaki disease ISO RGD:1314403 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 | ClinVar Annotator: match by term: Schindler disease type 2 PMID:11251574|PMID:1131374|PMID:11313741|PMID:1313741|PMID:14685826|PMID:15619430|PMID:16199547|PMID:17171432|PMID:18414213|PMID:19683538|PMID:2243144|PMID:23045655|PMID:2372288|PMID:24033266|PMID:24767253|PMID:2564952|PMID:25741868|PMID:27138754|PMID:28252636|PMID:28492532|PMID:2889023|PMID:29431110|PMID:30487145|PMID:31980526|PMID:32860008|PMID:34670123|PMID:7707696|PMID:8040340|PMID:8071745|PMID:8782044 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:0112320 Schindler disease type 3 ISO RGD:1314403 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 3 PMID:11251574|PMID:11313741|PMID:23045655|PMID:2372288|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31980526|PMID:34670123|PMID:8071745|PMID:8782044 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:1059 intellectual disability ISO RGD:1314403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:2367 neuroaxonal dystrophy ISO RGD:1314403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2243144 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:2367 neuroaxonal dystrophy ISO RGD:1314403 D RGD:9068941 20200609 RGD Schindler disease, OMIM:609241, DNA:point mutation:exon:E325K PMID:2243144|REF_RGD_ID:1600557 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:479 angiokeratoma ISO RGD:1314403 D RGD:9068941 20200609 RGD Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W PMID:8040340|REF_RGD_ID:1600558 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:630 genetic disease ISO RGD:1314403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24767253|PMID:25741868|PMID:28252636|PMID:28492532 8892894 Naga alpha-N-acetylgalactosaminidase gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1314403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8892908 Tgfa transforming growth factor alpha gene DOID:0050563 nonsyndromic deafness ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356075 8892908 Tgfa transforming growth factor alpha gene DOID:0080178 mucositis ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18803016 8892908 Tgfa transforming growth factor alpha gene DOID:11396 pulmonary edema ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11919079 8892908 Tgfa transforming growth factor alpha gene DOID:1793 pancreatic cancer ISO RGD:3849 D RGD:9068941 20200609 RGD PMID:17785207|REF_RGD_ID:2317468 8892908 Tgfa transforming growth factor alpha gene DOID:1793 pancreatic cancer ISO RGD:736273 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:1401070|REF_RGD_ID:2317473 8892908 Tgfa transforming growth factor alpha gene DOID:2326 gastroenteritis ISO RGD:736273 D RGD:9068941 20200609 RGD PMID:18956197|REF_RGD_ID:2317483 8892908 Tgfa transforming growth factor alpha gene DOID:2615 papilloma ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 8892908 Tgfa transforming growth factor alpha gene DOID:3021 acute kidney failure ISO RGD:3849 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11340354|REF_RGD_ID:10395241 8892908 Tgfa transforming growth factor alpha gene DOID:3770 pulmonary fibrosis ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18424623 8892908 Tgfa transforming growth factor alpha gene DOID:3892 insulinoma ISO RGD:736273 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:8712689|REF_RGD_ID:2317472 8892908 Tgfa transforming growth factor alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16230376 8892908 Tgfa transforming growth factor alpha gene DOID:4948 gallbladder carcinoma ISO RGD:736273 D RGD:9068941 20200609 RGD PMID:9542514|REF_RGD_ID:2317470 8892908 Tgfa transforming growth factor alpha gene DOID:630 genetic disease ISO RGD:736273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892908 Tgfa transforming growth factor alpha gene DOID:6432 pulmonary hypertension ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18424623 8892908 Tgfa transforming growth factor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:3849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:9060843|REF_RGD_ID:2317471 8892908 Tgfa transforming growth factor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15565109|PMID:9029167 8892908 Tgfa transforming growth factor alpha gene DOID:687 hepatoblastoma ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11560253 8892908 Tgfa transforming growth factor alpha gene DOID:8893 psoriasis ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7519033 8892908 Tgfa transforming growth factor alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15723263 8892908 Tgfa transforming growth factor alpha gene DOID:9000310 Lung Injury ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11919079 8892908 Tgfa transforming growth factor alpha gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14514962 8892908 Tgfa transforming growth factor alpha gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 8892908 Tgfa transforming growth factor alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3849 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16734725|REF_RGD_ID:2317490 8892908 Tgfa transforming growth factor alpha gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9079223 8892908 Tgfa transforming growth factor alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17136230 8892908 Tgfa transforming growth factor alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:3849 D RGD:9068941 20200609 RGD protein:increased expression:cartilage PMID:17968906|REF_RGD_ID:2317486 8892908 Tgfa transforming growth factor alpha gene DOID:9002331 Knee Osteoarthritis ISO RGD:736273 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:17968906|REF_RGD_ID:2317486 8892908 Tgfa transforming growth factor alpha gene DOID:9002955 Nerve Degeneration ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9263032 8892908 Tgfa transforming growth factor alpha gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603490 8892908 Tgfa transforming growth factor alpha gene DOID:9005372 Inflammation ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11919079 8892908 Tgfa transforming growth factor alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18424623 8892908 Tgfa transforming growth factor alpha gene DOID:9006169 Head and Neck Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 8892908 Tgfa transforming growth factor alpha gene DOID:9007096 Stroke ISO RGD:3849 D RGD:9068941 20200609 RGD PMID:19248822|REF_RGD_ID:2317476 8892908 Tgfa transforming growth factor alpha gene DOID:9007188 Liver Neoplasms ISO RGD:736273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8807143 8892923 Tnp2 transition protein 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:736031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8892923 Tnp2 transition protein 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:736031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8892923 Tnp2 transition protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:736031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8892923 Tnp2 transition protein 2 gene DOID:630 genetic disease ISO RGD:736031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892934 Zxdc ZXD family zinc finger C gene DOID:630 genetic disease ISO RGD:1607003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8892934 Zxdc ZXD family zinc finger C gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1607003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8892934 Zxdc ZXD family zinc finger C gene DOID:9270 alkaptonuria ISO RGD:1607003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8892963 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1314467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:19836009|PMID:25741868|PMID:28492532 8892963 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:0050475 Weill-Marchesani syndrome susceptibility ISO RGD:1557306 D RGD:9068941 20230413 RGD DNA:SNP:cd: p.G661R (mouse) PMID:34424262|REF_RGD_ID:243065144 8892963 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:0080490 mucolipidosis type IV ISO RGD:1314467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 8892963 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:1070 primary open angle glaucoma ISO RGD:12096613 D RGD:9068941 20240111 OMIA Glaucoma, primary open angle, ADAMTS10-related PMID:1428571|PMID:18435660|PMID:21379321|PMID:22524196|PMID:23422823|PMID:23518772|PMID:25372548|PMID:26277300|PMID:26456751|PMID:27212875|PMID:27271467|PMID:2764345|PMID:2764346|PMID:27681326|PMID:2925324|PMID:29708978|PMID:36855027|PMID:3710885|PMID:37582787|PMID:38130820|PMID:7212410|PMID:7325430|PMID:7720807|PMID:924743 8892963 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:12849 autistic disorder ISO RGD:1314467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8892963 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:1891 optic nerve disease ISO RGD:1557306 D RGD:9068941 20230413 RGD DNA:SNP:cd: p.G661R (mouse) PMID:36216203|REF_RGD_ID:243065145 8892963 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:630 genetic disease ISO RGD:1314467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8892963 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:1314467 D RGD:7240710 20200101 OMIM 8892963 Adamts10 ADAM metallopeptidase with thrombospondin type 1 motif 10 gene DOID:9002998 Weill-Marchesani Syndrome 1 ISO RGD:1314467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 1 PMID:15368195|PMID:18567016|PMID:19836009|PMID:25741868|PMID:28492532 8892991 Pdxp pyridoxal phosphatase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1351799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8892991 Pdxp pyridoxal phosphatase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1351799 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8892991 Pdxp pyridoxal phosphatase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1351799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8892991 Pdxp pyridoxal phosphatase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8892991 Pdxp pyridoxal phosphatase gene DOID:630 genetic disease ISO RGD:1351799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893006 Morf4l1 mortality factor 4 like 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1317423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8893006 Morf4l1 mortality factor 4 like 1 gene DOID:2717 Bloom syndrome ISO RGD:1317423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8893006 Morf4l1 mortality factor 4 like 1 gene DOID:630 genetic disease ISO RGD:1317423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893006 Morf4l1 mortality factor 4 like 1 gene DOID:9256 colorectal cancer ISO RGD:1317423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8893022 Pnpla8 patatin like phospholipase domain containing 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8893022 Pnpla8 patatin like phospholipase domain containing 8 gene DOID:630 genetic disease ISO RGD:1603644 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8893022 Pnpla8 patatin like phospholipase domain containing 8 gene DOID:9002494 Mitochondrial Myopathy with Lactic Acidosis ISO RGD:1603644 D RGD:7240710 20180130 OMIM 8893022 Pnpla8 patatin like phospholipase domain containing 8 gene DOID:9002494 Mitochondrial Myopathy with Lactic Acidosis ISO RGD:1603644 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis PMID:19840936|PMID:25512002|PMID:25741868|PMID:28492532|PMID:29681094|PMID:34782754 8893043 Cenpf centromere protein F gene DOID:0080600 COVID-19 ISO RGD:1352971 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8893043 Cenpf centromere protein F gene DOID:0110595 Stromme syndrome ISO RGD:1352971 D RGD:7240710 20190315 OMIM 8893043 Cenpf centromere protein F gene DOID:0110595 Stromme syndrome ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stromme syndrome PMID:25564561|PMID:25741868|PMID:25741878|PMID:26820108|PMID:28407396|PMID:28492532|PMID:8261651 8893043 Cenpf centromere protein F gene DOID:10907 microcephaly ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8893043 Cenpf centromere protein F gene DOID:12930 dilated cardiomyopathy ISO RGD:1623040 D RGD:9068941 20220825 MouseDO 8893043 Cenpf centromere protein F gene DOID:1540 parathyroid carcinoma ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8893043 Cenpf centromere protein F gene DOID:630 genetic disease ISO RGD:1352971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8893043 Cenpf centromere protein F gene DOID:684 hepatocellular carcinoma ISO RGD:1352971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8893043 Cenpf centromere protein F gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 8893043 Cenpf centromere protein F gene DOID:9008939 Breast Neoplasms ISO RGD:1352971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 8893043 Cenpf centromere protein F gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8893043 Cenpf centromere protein F gene DOID:9266 cystinuria ISO RGD:1352971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:25741868 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1321007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:16244493|PMID:25601850 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:1321007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:28492532 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:0060357 chylomicron retention disease ISO RGD:1321007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chylomicron retention disease PMID:25741868|PMID:27469900 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:0110517 autosomal recessive nonsyndromic deafness 66 ISO RGD:1321007 D RGD:7240710 20180130 OMIM 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:0110517 autosomal recessive nonsyndromic deafness 66 ISO RGD:1321007 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 66 PMID:16199547|PMID:16244493|PMID:23677054|PMID:23746548|PMID:25557784|PMID:25601850|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28440294|PMID:28461130|PMID:28461131|PMID:28492532|PMID:31589614|PMID:31821705|PMID:32205117 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:0111126 nephronophthisis 19 ISO RGD:1321007 D RGD:7240710 20180130 OMIM 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:0111126 nephronophthisis 19 ISO RGD:1321007 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 19 PMID:25557784|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28492532|PMID:31589614|PMID:31821705 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:snp:intron:c.923-1870T>C (human) (rs793862) PMID:27501527|REF_RGD_ID:12910980 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:14268 sclerosing cholangitis ISO RGD:1321007 D RGD:7240710 20220420 OMIM 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:14268 sclerosing cholangitis ISO RGD:1321007 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Isolated neonatal sclerosing cholangitis PMID:16199547|PMID:23677054|PMID:23746548|PMID:25557784|PMID:25741868|PMID:26467025|PMID:27319779|PMID:27469900|PMID:28440294|PMID:28461130|PMID:28461131|PMID:28492532|PMID:31589614|PMID:31821705|PMID:32205117 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:4428 dyslexia ISO RGD:1622142 D RGD:9068941 20200609 RGD PMID:25130614|REF_RGD_ID:12910976 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:deletion, snps:introns:multiple (human) PMID:19238550|REF_RGD_ID:12910975 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:snp:intron:c.760-430G>A (human) (rs807724) PMID:27100778|REF_RGD_ID:11532935 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:snps:introns:c.558-3950G>C, c.1326+252C>T (human) (rs1091047, rs1419228) PMID:20068590|REF_RGD_ID:12910973 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:4428 dyslexia susceptibility ISO RGD:1321007 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:22750057|REF_RGD_ID:12910971 8893070 Dcdc2 doublecortin domain containing 2 gene DOID:630 genetic disease ISO RGD:1321007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8893105 Tra2a transformer 2 alpha homolog gene DOID:37 skin disease ISO RGD:1603645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8893105 Tra2a transformer 2 alpha homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8893105 Tra2a transformer 2 alpha homolog gene DOID:630 genetic disease ISO RGD:1603645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893105 Tra2a transformer 2 alpha homolog gene DOID:9007964 Arsenic Poisoning ISO RGD:1603645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8893117 Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8893117 Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 gene DOID:5419 schizophrenia ISO RGD:1351877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8893117 Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 gene DOID:630 genetic disease ISO RGD:1351877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893129 Mrpl9 mitochondrial ribosomal protein L9 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8893129 Mrpl9 mitochondrial ribosomal protein L9 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8893129 Mrpl9 mitochondrial ribosomal protein L9 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8893129 Mrpl9 mitochondrial ribosomal protein L9 gene DOID:1540 parathyroid carcinoma ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8893129 Mrpl9 mitochondrial ribosomal protein L9 gene DOID:5812 MHC class II deficiency ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8893129 Mrpl9 mitochondrial ribosomal protein L9 gene DOID:630 genetic disease ISO RGD:1350314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893129 Mrpl9 mitochondrial ribosomal protein L9 gene DOID:9008939 Breast Neoplasms ISO RGD:1350314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8893129 Mrpl9 mitochondrial ribosomal protein L9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8893141 Hoatz HOATZ cilia and flagella associated protein gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1602158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8893141 Hoatz HOATZ cilia and flagella associated protein gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1602158 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8893141 Hoatz HOATZ cilia and flagella associated protein gene DOID:1059 intellectual disability ISO RGD:1602158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8893141 Hoatz HOATZ cilia and flagella associated protein gene DOID:12704 ataxia telangiectasia ISO RGD:1602158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8893141 Hoatz HOATZ cilia and flagella associated protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8893141 Hoatz HOATZ cilia and flagella associated protein gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1602158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8893159 Cimap1d CIMAP1 family member D gene DOID:630 genetic disease ISO RGD:1321058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893173 Epcam epithelial cell adhesion molecule gene DOID:0060776 congenital diarrhea 5 with tufting enteropathy ISO RGD:1345999 D RGD:7240710 20180130 OMIM 8893173 Epcam epithelial cell adhesion molecule gene DOID:0060776 congenital diarrhea 5 with tufting enteropathy ISO RGD:1345999 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 5 with tufting enteropathy | ClinVar Annotator: match by term: Congenital tufting enteropathy | ClinVar Annotator: match by term: INTESTINAL EPITHELIAL CELL DYSPLASIA PMID:15849733|PMID:16199547|PMID:18572020|PMID:19098912|PMID:19455606|PMID:19820410|PMID:20034091|PMID:20981223|PMID:21315192|PMID:23264089|PMID:23462293|PMID:23938213|PMID:24033266|PMID:24142340|PMID:24337010|PMID:25637381|PMID:25741868|PMID:28361844|PMID:28492532|PMID:28701297|PMID:36988593 8893173 Epcam epithelial cell adhesion molecule gene DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 ISO RGD:1345999 D RGD:7240710 20180130 OMIM 8893173 Epcam epithelial cell adhesion molecule gene DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 ISO RGD:1345999 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 8 PMID:16951683|PMID:19098912|PMID:23462293|PMID:24033266|PMID:24142340|PMID:25741868|PMID:28492532|PMID:28701297 8893173 Epcam epithelial cell adhesion molecule gene DOID:0070271 Lynch syndrome 1 ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I PMID:24033266|PMID:25741868|PMID:28492532 8893173 Epcam epithelial cell adhesion molecule gene DOID:0080875 IDH-mutant anaplastic astrocytoma ISO RGD:1345999 D RGD:8554872 20240123 ClinVar ClinVar Annotator: match by term: Astrocytoma IDH-mutant PMID:25741868 8893173 Epcam epithelial cell adhesion molecule gene DOID:10534 stomach cancer ISO RGD:1345999 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:18572020|PMID:20034091|PMID:23462293|PMID:25741868|PMID:36988593 8893173 Epcam epithelial cell adhesion molecule gene DOID:1520 colon carcinoma ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 8893173 Epcam epithelial cell adhesion molecule gene DOID:1793 pancreatic cancer ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17446842 8893173 Epcam epithelial cell adhesion molecule gene DOID:2394 ovarian cancer ISO RGD:1345999 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8893173 Epcam epithelial cell adhesion molecule gene DOID:305 carcinoma ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8893173 Epcam epithelial cell adhesion molecule gene DOID:3525 middle cerebral artery infarction ISO RGD:621365 D RGD:9068941 20200609 RGD PMID:15950761|REF_RGD_ID:11038820 8893173 Epcam epithelial cell adhesion molecule gene DOID:3883 Lynch syndrome ISO RGD:1345999 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:11830542|PMID:11857745|PMID:12373605|PMID:12938096|PMID:14729822|PMID:14871915|PMID:15713769|PMID:15849733|PMID:15870828|PMID:15942939|PMID:16086322|PMID:16142001|PMID:16143124|PMID:16199547|PMID:16736289|PMID:16941473|PMID:17250661|PMID:17576681|PMID:18307539|PMID:18330910|PMID:18572020|PMID:19098912|PMID:19177550|PMID:19250818|PMID:19455606|PMID:19526325|PMID:19930554|PMID:20034091|PMID:20587412|PMID:20591884|PMID:20864635|PMID:20981223|PMID:21145788|PMID:21227399|PMID:21309036|PMID:21315192|PMID:21642682|PMID:21791569|PMID:22243433|PMID:22283331|PMID:22658618|PMID:22883484|PMID:23264089|PMID:23454724|PMID:23462293|PMID:23801599|PMID:23938213|PMID:24033266|PMID:24142340|PMID:24244552|PMID:24323032|PMID:24337010|PMID:24362816|PMID:25381466|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25759555|PMID:25980754|PMID:26530882|PMID:27064304|PMID:27144940|PMID:27717089|PMID:28361844|PMID:28492532|PMID:28701297|PMID:30374176|PMID:33309985|PMID:34503561|PMID:9536098|PMID:9843200 8893173 Epcam epithelial cell adhesion molecule gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:32566746 8893173 Epcam epithelial cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1345999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893173 Epcam epithelial cell adhesion molecule gene DOID:684 hepatocellular carcinoma severity ISO RGD:1345999 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:24616575|REF_RGD_ID:14695007 8893173 Epcam epithelial cell adhesion molecule gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8893173 Epcam epithelial cell adhesion molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:621365 D RGD:9068941 20200609 RGD PMID:23390083|REF_RGD_ID:9685143 8893173 Epcam epithelial cell adhesion molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8893173 Epcam epithelial cell adhesion molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8893173 Epcam epithelial cell adhesion molecule gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20870202 8893173 Epcam epithelial cell adhesion molecule gene DOID:9002928 Colonic Neoplasms ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic neoplasm 8893173 Epcam epithelial cell adhesion molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8893173 Epcam epithelial cell adhesion molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 8893185 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1602828 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 8893185 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602828 D RGD:7240710 20180130 OMIM 8893185 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:25741868|PMID:28492532 8893185 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1602828 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:25442110|PMID:27713094|PMID:28122516|PMID:28478440|PMID:28973294 8893185 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:417 autoimmune disease ISO RGD:1620759 D RGD:9068941 20220825 MouseDO OMIM:109100 | OMIM:607836 | OMIM:613551 8893185 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:5614 eye disease ISO RGD:1602828 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33661518 8893185 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602828 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8893185 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1602828 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:25442110|PMID:27713094 8893185 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:9002955 Nerve Degeneration ISO RGD:1602828 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33661518 8893185 C9orf72 C9orf72-SMCR8 complex subunit gene DOID:9003713 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis ISO RGD:1602828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia 8893210 Pced1a PC-esterase domain containing 1A gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1318837 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8893210 Pced1a PC-esterase domain containing 1A gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1318837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8893210 Pced1a PC-esterase domain containing 1A gene DOID:630 genetic disease ISO RGD:1318837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893222 Gale UDP-galactose-4-epimerase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733015 D RGD:7240710 20191106 OMIM 8893222 Gale UDP-galactose-4-epimerase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733015 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency PMID:10086948|PMID:11117433|PMID:11279193|PMID:11903335|PMID:15639193|PMID:16199547|PMID:16301867|PMID:16302980|PMID:16385452|PMID:17576681|PMID:18188677|PMID:19250319|PMID:21703329|PMID:23430501|PMID:23644136|PMID:23732289|PMID:24033266|PMID:24578239|PMID:25150110|PMID:25741868|PMID:26565537|PMID:27604308|PMID:28173647|PMID:28247339|PMID:28492532|PMID:30247636|PMID:33510604|PMID:33555556|PMID:34159722|PMID:34448047|PMID:36056436|PMID:36395340|PMID:6408303|PMID:7305435|PMID:9326324|PMID:9536098|PMID:9538513|PMID:9973283 8893222 Gale UDP-galactose-4-epimerase gene DOID:630 genetic disease ISO RGD:733015 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10086948|PMID:11117433|PMID:11279193|PMID:16302980|PMID:18188677|PMID:23644136|PMID:23732289|PMID:25741868|PMID:27604308|PMID:28247339|PMID:28492532|PMID:6408303|PMID:7305435|PMID:9973283 8893222 Gale UDP-galactose-4-epimerase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8893222 Gale UDP-galactose-4-epimerase gene DOID:9870 galactosemia ISO RGD:733015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 8893254 Nrsn2 neurensin 2 gene DOID:630 genetic disease ISO RGD:1313267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893254 Nrsn2 neurensin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8893272 Rnh1 ribonuclease/angiogenin inhibitor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8893272 Rnh1 ribonuclease/angiogenin inhibitor 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:735371 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8893272 Rnh1 ribonuclease/angiogenin inhibitor 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:735371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8893272 Rnh1 ribonuclease/angiogenin inhibitor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8893272 Rnh1 ribonuclease/angiogenin inhibitor 1 gene DOID:630 genetic disease ISO RGD:735371 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:37191094 8893272 Rnh1 ribonuclease/angiogenin inhibitor 1 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:735371 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO PMID:25741868|PMID:36935417|PMID:37191094 8893289 Atoh7 atonal bHLH transcription factor 7 gene DOID:630 genetic disease ISO RGD:1312698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8893289 Atoh7 atonal bHLH transcription factor 7 gene DOID:9001923 Foveal Hypoplasia ISO RGD:1312698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:28492532|PMID:31696227 8893289 Atoh7 atonal bHLH transcription factor 7 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1312698 D RGD:7240710 20180130 OMIM 8893289 Atoh7 atonal bHLH transcription factor 7 gene DOID:9005204 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive ISO RGD:1312698 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive PMID:11527934|PMID:21441919|PMID:21474777|PMID:22068589|PMID:22645276|PMID:25741868|PMID:28492532|PMID:9677055 8893293 Dnajc14 DnaJ heat shock protein family (Hsp40) member C14 gene DOID:630 genetic disease ISO RGD:1349604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893305 Mmp17 matrix metallopeptidase 17 gene DOID:630 genetic disease ISO RGD:1323053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893325 Iah1 isoamyl acetate hydrolyzing esterase 1 (putative) gene DOID:630 genetic disease ISO RGD:1605825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8893325 Iah1 isoamyl acetate hydrolyzing esterase 1 (putative) gene DOID:9001556 Neonatal Inflammatory Skin and Bowel Disease 1 ISO RGD:1605825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1 PMID:16199547|PMID:17576681|PMID:22010916|PMID:25741868|PMID:25804906|PMID:26683521|PMID:28492532|PMID:29560122|PMID:31060243|PMID:9536098 8893338 Tmprss7 transmembrane serine protease 7 gene DOID:303 substance-related disorder ISO RGD:1312220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8893338 Tmprss7 transmembrane serine protease 7 gene DOID:630 genetic disease ISO RGD:1312220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893361 Lrp3 LDL receptor related protein 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:733839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8893361 Lrp3 LDL receptor related protein 3 gene DOID:630 genetic disease ISO RGD:733839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893361 Lrp3 LDL receptor related protein 3 gene DOID:9119 acute myeloid leukemia ISO RGD:733839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:28492532 8893391 Znf770 zinc finger protein 770 gene DOID:2717 Bloom syndrome ISO RGD:1606270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8893391 Znf770 zinc finger protein 770 gene DOID:630 genetic disease ISO RGD:1606270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893391 Znf770 zinc finger protein 770 gene DOID:9256 colorectal cancer ISO RGD:1606270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8893417 Cd93 CD93 molecule gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1351917 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 8893417 Cd93 CD93 molecule gene DOID:630 genetic disease ISO RGD:1351917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893441 Slc37a1 solute carrier family 37 member 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1318445 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8893441 Slc37a1 solute carrier family 37 member 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1318445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8893441 Slc37a1 solute carrier family 37 member 1 gene DOID:630 genetic disease ISO RGD:1318445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893441 Slc37a1 solute carrier family 37 member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1318445 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8893441 Slc37a1 solute carrier family 37 member 1 gene DOID:9263 homocystinuria ISO RGD:1318445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8893441 Slc37a1 solute carrier family 37 member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318445 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8893488 Catip ciliogenesis associated TTC17 interacting protein gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8893488 Catip ciliogenesis associated TTC17 interacting protein gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8893488 Catip ciliogenesis associated TTC17 interacting protein gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8893488 Catip ciliogenesis associated TTC17 interacting protein gene DOID:0112335 spermatogenic failure 54 ISO RGD:1602043 D RGD:7240710 20210623 OMIM 8893488 Catip ciliogenesis associated TTC17 interacting protein gene DOID:0112335 spermatogenic failure 54 ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 54 PMID:32503832 8893488 Catip ciliogenesis associated TTC17 interacting protein gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8893488 Catip ciliogenesis associated TTC17 interacting protein gene DOID:630 genetic disease ISO RGD:1602043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893488 Catip ciliogenesis associated TTC17 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8893532 Septin5 septin 5 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1350777 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8893532 Septin5 septin 5 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1350777 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8893532 Septin5 septin 5 gene DOID:11198 DiGeorge syndrome ISO RGD:1350777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:25516202|PMID:28492532 8893532 Septin5 septin 5 gene DOID:12583 velocardiofacial syndrome ISO RGD:1350777 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8893532 Septin5 septin 5 gene DOID:12849 autistic disorder ISO RGD:1350777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8893532 Septin5 septin 5 gene DOID:1588 thrombocytopenia ISO RGD:1350777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10887115|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 8893532 Septin5 septin 5 gene DOID:2213 hemorrhagic disease ISO RGD:1350777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8893532 Septin5 septin 5 gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1350777 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome PMID:10887115|PMID:17109744|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362|PMID:34355501 8893532 Septin5 septin 5 gene DOID:5419 schizophrenia ISO RGD:1350777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8893532 Septin5 septin 5 gene DOID:630 genetic disease ISO RGD:1350777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893532 Septin5 septin 5 gene DOID:9006593 Bernard-Soulier Syndrome, Type B ISO RGD:1350777 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type PMID:10887115|PMID:18414213|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501|PMID:7633430|PMID:8703016|PMID:9116284 8893570 Mpzl3 myelin protein zero like 3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8893570 Mpzl3 myelin protein zero like 3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1601712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8893570 Mpzl3 myelin protein zero like 3 gene DOID:0080690 RASopathy ISO RGD:1601712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8893570 Mpzl3 myelin protein zero like 3 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8893570 Mpzl3 myelin protein zero like 3 gene DOID:0110651 long QT syndrome 10 ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8893570 Mpzl3 myelin protein zero like 3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8893570 Mpzl3 myelin protein zero like 3 gene DOID:0111971 immunodeficiency 18 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8893570 Mpzl3 myelin protein zero like 3 gene DOID:0111972 immunodeficiency 19 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8893570 Mpzl3 myelin protein zero like 3 gene DOID:0111973 immunodeficiency 17 ISO RGD:1601712 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8893570 Mpzl3 myelin protein zero like 3 gene DOID:1059 intellectual disability ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8893570 Mpzl3 myelin protein zero like 3 gene DOID:1324 lung cancer ISO RGD:1601712 D RGD:9068941 20220721 RGD DNA:SNP:UTR3:rs11216826 (human) PMID:29193083|REF_RGD_ID:153297750 8893570 Mpzl3 myelin protein zero like 3 gene DOID:630 genetic disease ISO RGD:1601712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893570 Mpzl3 myelin protein zero like 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8893570 Mpzl3 myelin protein zero like 3 gene DOID:9007661 Dwarfism ISO RGD:1601712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8893591 Hydin HYDIN axonemal central pair apparatus protein gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8893591 Hydin HYDIN axonemal central pair apparatus protein gene DOID:0110617 primary ciliary dyskinesia 5 ISO RGD:1347981 D RGD:7240710 20180130 OMIM 8893591 Hydin HYDIN axonemal central pair apparatus protein gene DOID:0110617 primary ciliary dyskinesia 5 ISO RGD:1347981 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 5 PMID:14985390|PMID:23022101|PMID:23849777|PMID:24033266|PMID:25741868|PMID:28512736 8893591 Hydin HYDIN axonemal central pair apparatus protein gene DOID:10908 hydrocephalus ISO RGD:1347981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12719380|PMID:19029900 8893591 Hydin HYDIN axonemal central pair apparatus protein gene DOID:10908 hydrocephalus ISO RGD:1558533 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon (mouse) PMID:12719380|REF_RGD_ID:634487 8893591 Hydin HYDIN axonemal central pair apparatus protein gene DOID:10908 hydrocephalus ISO RGD:1558533 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8893591 Hydin HYDIN axonemal central pair apparatus protein gene DOID:630 genetic disease ISO RGD:1347981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893591 Hydin HYDIN axonemal central pair apparatus protein gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1347981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 8893591 Hydin HYDIN axonemal central pair apparatus protein gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1347981 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 8893591 Hydin HYDIN axonemal central pair apparatus protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347981 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868 8893694 Lgals1 galectin 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1347735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8893694 Lgals1 galectin 1 gene DOID:0080600 COVID-19 ISO RGD:1347735 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8893694 Lgals1 galectin 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1347735 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8893694 Lgals1 galectin 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1347735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8893694 Lgals1 galectin 1 gene DOID:10952 nephritis ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11044214 8893694 Lgals1 galectin 1 gene DOID:10966 lipoid nephrosis ISO RGD:69355 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus, podocytes (rat) PMID:19079321|REF_RGD_ID:2316526 8893694 Lgals1 galectin 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1347735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8893694 Lgals1 galectin 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:69355 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:18225978|REF_RGD_ID:2316551 8893694 Lgals1 galectin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 8893694 Lgals1 galectin 1 gene DOID:5082 liver cirrhosis ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8893694 Lgals1 galectin 1 gene DOID:630 genetic disease ISO RGD:1347735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893694 Lgals1 galectin 1 gene DOID:707 B-cell lymphoma ISO RGD:69355 D RGD:9068941 20200609 RGD protein:increased expression:primary tumor (rat) PMID:16733672|REF_RGD_ID:2316550 8893694 Lgals1 galectin 1 gene DOID:9000058 Keloid ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8893694 Lgals1 galectin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:0050562 West syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome PMID:16813600|PMID:18414213|PMID:18790821|PMID:21775177|PMID:22867051|PMID:25741868|PMID:28492532 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:0060763 X-linked juvenile retinoschisis 1 ISO RGD:1353625 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinoschisis juvenile X chromosome-linked | ClinVar Annotator: match by term: X-Linked Juvenile Retinoschisis PMID:10533068|PMID:10589241|PMID:12417531|PMID:12928282|PMID:15932525|PMID:15937075|PMID:16361673|PMID:17296904|PMID:17304551|PMID:17615541|PMID:17987333|PMID:18369700|PMID:18834580|PMID:19390641|PMID:20061330|PMID:21701876|PMID:22332228|PMID:23847049|PMID:24634885|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29902095|PMID:30652005|PMID:32300273|PMID:9618178|PMID:9760195 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:0060825 Christianson syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:15499549|PMID:16015284|PMID:16813600|PMID:18414213|PMID:19241098|PMID:19564592|PMID:20397747|PMID:20479760|PMID:21160487|PMID:21775177|PMID:22867051|PMID:23064044|PMID:25741868|PMID:26467025|PMID:28492532 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:0060825 Christianson syndrome ISO RGD:1353625 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Angelman syndrome-like PMID:15499549|PMID:16813600|PMID:18414213|PMID:19241098|PMID:19564592|PMID:20397747|PMID:20479760|PMID:21160487|PMID:21775177|PMID:22867051|PMID:25657822|PMID:25741868|PMID:26467025|PMID:27770071|PMID:28492532 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 PMID:25741868 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1353625 D RGD:7240710 20180314 OMIM 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1353625 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: CDKL5-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 | ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2 PMID:10533068|PMID:15492925|PMID:15499549|PMID:15689447|PMID:15917271|PMID:16015284|PMID:16199547|PMID:16326141|PMID:16330482|PMID:16611748|PMID:16813600|PMID:17256798|PMID:17304053|PMID:17546640|PMID:17576681|PMID:17993579|PMID:18063413|PMID:18076117|PMID:18266744|PMID:18414213|PMID:18564362|PMID:18790821|PMID:18809835|PMID:19161156|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19396824|PMID:19428276|PMID:19471977|PMID:19564592|PMID:19740913|PMID:19763152|PMID:19780792|PMID:19793311|PMID:19807736|PMID:20307669|PMID:20397747|PMID:20479760|PMID:20493745|PMID:20602487|PMID:20848651|PMID:21160487|PMID:21293276|PMID:21309761|PMID:21318334|PMID:21482751|PMID:21765152|PMID:21770923|PMID:21775177|PMID:21802232|PMID:22264704|PMID:22406018|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22779007|PMID:22812903|PMID:22832775|PMID:22867051|PMID:22872100|PMID:22922712|PMID:22982301|PMID:23064044|PMID:23151060|PMID:23184456|PMID:23236174|PMID:23238081|PMID:23242510|PMID:23262346|PMID:23583054|PMID:23647072|PMID:23708187|PMID:23756444|PMID:23828526|PMID:23934111|PMID:24564546|PMID:24715584|PMID:25266480|PMID:25315662|PMID:25326635|PMID:25640679|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26112015|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26544041|PMID:26993267|PMID:27081548|PMID:27187038|PMID:27265524|PMID:27334371|PMID:27343026|PMID:27391121|PMID:27599155|PMID:27770071|PMID:27779742|PMID:27781031|PMID:27823948|PMID:27824329|PMID:27848944|PMID:28074849|PMID:28386848|PMID:28492532|PMID:28837158|PMID:29095814|PMID:29100083|PMID:29186148|PMID:29190809|PMID:29264392|PMID:29390993|PMID:29420175|PMID:29444904|PMID:29455050|PMID:29655203|PMID:29852413|PMID:30182498|PMID:30266825|PMID:30460546|PMID:30624022|PMID:30776697|PMID:30898514|PMID:30945278|PMID:30945684|PMID:31031587|PMID:31313283|PMID:31487502|PMID:31492455|PMID:31690835|PMID:31780880|PMID:31791873|PMID:33436160|PMID:33538404|PMID:34120799|PMID:34229227|PMID:34490615|PMID:36703223|PMID:9536098 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:0080467 developmental and epileptic encephalopathy 2 severity ISO RGD:1353625 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:22678952|REF_RGD_ID:12791015 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1353625 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:1059 intellectual disability ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18809835|PMID:19362436|PMID:19793311|PMID:21770923|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22872100|PMID:25657822|PMID:25741868|PMID:26271793|PMID:26482601|PMID:26993267|PMID:28492532|PMID:29100083|PMID:30182498|PMID:30460546 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:11832 visual epilepsy ISO RGD:1353625 D RGD:9068941 20220728 RGD DNA:deletion, missense, nonsense mutations:cds: PMID:22264704|REF_RGD_ID:12791013 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:1206 Rett syndrome ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16015284|PMID:18414213|PMID:19241098|PMID:19396824|PMID:25657822|PMID:27779742|PMID:28074849|PMID:28492532|PMID:30266825 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:12849 autistic disorder ISO RGD:1353625 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism PMID:15492925|PMID:20479760|PMID:21681106|PMID:28492532|PMID:29264392|PMID:30208311 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:1826 epilepsy ISO RGD:1353625 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:1932 Angelman syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:25741868 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:2234 focal epilepsy ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1353625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:630 genetic disease ISO RGD:1353625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10234514|PMID:10533068|PMID:10922205|PMID:12746437|PMID:16015284|PMID:18414213|PMID:18809835|PMID:19324861|PMID:19362436|PMID:19390641|PMID:19793311|PMID:20061330|PMID:20479760|PMID:20809529|PMID:21770923|PMID:21775177|PMID:22264704|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22779007|PMID:22867051|PMID:22872100|PMID:23064044|PMID:23151060|PMID:23288992|PMID:23583054|PMID:23708187|PMID:23756444|PMID:25657822|PMID:25741868|PMID:26112015|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26993267|PMID:27599155|PMID:27781031|PMID:27788217|PMID:27824329|PMID:28272453|PMID:28492532|PMID:29100083|PMID:29264392|PMID:29851975|PMID:30182498|PMID:30460546|PMID:30652005|PMID:31087526|PMID:33460243|PMID:33781268|PMID:34624300|PMID:35456481|PMID:618178|PMID:9618178 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:8465 retinoschisis ISO RGD:1353625 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Juvenile retinoschisis | ClinVar Annotator: match by term: Retinoschisis PMID:10220153|PMID:10234514|PMID:10450864|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636429|PMID:10636740|PMID:10922205|PMID:10947001|PMID:11295123|PMID:12417531|PMID:12746437|PMID:12782284|PMID:12920343|PMID:12928282|PMID:15281981|PMID:15531314|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16272055|PMID:16361673|PMID:16900931|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17525175|PMID:17576681|PMID:17615541|PMID:17631851|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18690710|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:19849666|PMID:20061330|PMID:20801516|PMID:20806044|PMID:20809529|PMID:21701876|PMID:21836411|PMID:22039241|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24505212|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:25999676|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28450823|PMID:28492532|PMID:28559085|PMID:29081674|PMID:29851975|PMID:29902095|PMID:30450322|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31456290|PMID:31725702|PMID:32124668|PMID:32300273|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:35456481|PMID:36909829|PMID:618178|PMID:6361673|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:8501 fundus dystrophy ISO RGD:1353625 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10220153|PMID:10234514|PMID:10533068|PMID:10589241|PMID:10636421|PMID:10636740|PMID:10922205|PMID:10947001|PMID:12417531|PMID:12746437|PMID:12920343|PMID:12928282|PMID:15932525|PMID:15937075|PMID:16167295|PMID:16361673|PMID:16900931|PMID:17172462|PMID:17296904|PMID:17304551|PMID:17515881|PMID:17576681|PMID:17615541|PMID:17987333|PMID:18369700|PMID:18541843|PMID:18834580|PMID:19093009|PMID:19324861|PMID:19390641|PMID:20061330|PMID:20809529|PMID:21701876|PMID:22110067|PMID:22245991|PMID:22332228|PMID:23288992|PMID:23453514|PMID:23514609|PMID:23568735|PMID:23847049|PMID:24634885|PMID:25525159|PMID:25741868|PMID:25799783|PMID:26356828|PMID:26872967|PMID:27032803|PMID:27246168|PMID:27788217|PMID:28221463|PMID:28272453|PMID:28348004|PMID:28492532|PMID:28559085|PMID:29851975|PMID:29902095|PMID:30551202|PMID:30652005|PMID:30923717|PMID:31087526|PMID:31725702|PMID:32300273|PMID:33460243|PMID:33546218|PMID:33781268|PMID:34624300|PMID:34822951|PMID:35456481|PMID:618178|PMID:9326935|PMID:9536098|PMID:9618178|PMID:9760195 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:17172462|PMID:20591708|PMID:21914562|PMID:22473288|PMID:28492532|PMID:9618178 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1353625 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:25657822|PMID:25741868|PMID:27770071|PMID:28492532 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1353625 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:15492925|PMID:15499549|PMID:15689447|PMID:15917271|PMID:16015284|PMID:16199547|PMID:16611748|PMID:16813600|PMID:17993579|PMID:18063413|PMID:18414213|PMID:18790821|PMID:18809835|PMID:19161156|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19428276|PMID:19455595|PMID:19471977|PMID:19740913|PMID:19780792|PMID:19793311|PMID:19807736|PMID:20493745|PMID:21160487|PMID:21293276|PMID:21318334|PMID:21765152|PMID:21770923|PMID:22430159|PMID:22670135|PMID:22670143|PMID:22678952|PMID:22867051|PMID:22872100|PMID:22982301|PMID:23064044|PMID:23151060|PMID:23238081|PMID:23583054|PMID:23934111|PMID:24564546|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26993267|PMID:27599155|PMID:27770071|PMID:27823948|PMID:27848944|PMID:28492532|PMID:29100083|PMID:30182498|PMID:30460546|PMID:31313283|PMID:31487502|PMID:31492455|PMID:31780880|PMID:33436160 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:9001793 Generalized Epilepsy ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:20397747|PMID:25741868|PMID:28492532 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome PMID:25741868 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:9006534 Nervous System Malformations ISO RGD:1353625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8893712 Cdkl5 cyclin dependent kinase like 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1353625 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36937954 8893738 Tspan32 tetraspanin 32 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8893738 Tspan32 tetraspanin 32 gene DOID:0080773 delta beta-thalassemia ISO RGD:1318659 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8893738 Tspan32 tetraspanin 32 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8893738 Tspan32 tetraspanin 32 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8893738 Tspan32 tetraspanin 32 gene DOID:630 genetic disease ISO RGD:1318659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893738 Tspan32 tetraspanin 32 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1318659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8893754 Barx1 BARX homeobox 1 gene DOID:12642 hiatus hernia ISO RGD:1322041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 8893754 Barx1 BARX homeobox 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1322041 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121790 8893754 Barx1 BARX homeobox 1 gene DOID:630 genetic disease ISO RGD:1322041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868|PMID:28492532 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1344693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:0112050 non-syndromic X-linked intellectual disability 63 ISO RGD:1344693 D RGD:7240710 20180130 OMIM 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:0112050 non-syndromic X-linked intellectual disability 63 ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ACSL4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 68 PMID:11889465|PMID:12525535|PMID:25741868 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:1059 intellectual disability ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:12849 autistic disorder ISO RGD:1344693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:1596 depressive disorder ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108178 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:630 genetic disease ISO RGD:1344693 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:9002457 Experimental Arthritis ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988084 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:9005372 Inflammation ISO RGD:69401 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:14622223|REF_RGD_ID:2315920 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:9006205 Animal Disease Models ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8893762 Acsl4 acyl-CoA synthetase long chain family member 4 gene DOID:9006976 Erythema ISO RGD:1344693 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108178 8893797 Nek5 NIMA related kinase 5 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1344374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8893797 Nek5 NIMA related kinase 5 gene DOID:1059 intellectual disability ISO RGD:1344374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8893797 Nek5 NIMA related kinase 5 gene DOID:630 genetic disease ISO RGD:1344374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893826 Ankrd13a ankyrin repeat domain 13A gene DOID:630 genetic disease ISO RGD:1318431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893851 Neil3 nei like DNA glycosylase 3 gene DOID:630 genetic disease ISO RGD:1352319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893851 Neil3 nei like DNA glycosylase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1352319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8893851 Neil3 nei like DNA glycosylase 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352319 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8893851 Neil3 nei like DNA glycosylase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8893865 Sdr9c7 short chain dehydrogenase/reductase family 9C member 7 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:732810 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:25741868|PMID:28369735|PMID:28492532|PMID:28906551|PMID:31012992|PMID:31633189|PMID:31642606|PMID:31671075|PMID:33422619|PMID:35822528 8893865 Sdr9c7 short chain dehydrogenase/reductase family 9C member 7 gene DOID:0080257 autosomal recessive congenital ichthyosis 13 ISO RGD:732810 D RGD:7240710 20190315 OMIM 8893865 Sdr9c7 short chain dehydrogenase/reductase family 9C member 7 gene DOID:0080257 autosomal recessive congenital ichthyosis 13 ISO RGD:732810 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 | ClinVar Annotator: match by term: SDR9C7-related condition PMID:25741868|PMID:28173123|PMID:28369735|PMID:28492532|PMID:28906551|PMID:31012992|PMID:31633189|PMID:31642606|PMID:31671075|PMID:33422619|PMID:35822528 8893865 Sdr9c7 short chain dehydrogenase/reductase family 9C member 7 gene DOID:630 genetic disease ISO RGD:732810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8893878 Tacc3 transforming acidic coiled-coil containing protein 3 gene DOID:11054 urinary bladder cancer ISO RGD:1353438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 8893878 Tacc3 transforming acidic coiled-coil containing protein 3 gene DOID:1856 cherubism ISO RGD:1353438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8893878 Tacc3 transforming acidic coiled-coil containing protein 3 gene DOID:2671 transitional cell carcinoma ISO RGD:1353438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 8893878 Tacc3 transforming acidic coiled-coil containing protein 3 gene DOID:2871 endometrial carcinoma ISO RGD:1353438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8893878 Tacc3 transforming acidic coiled-coil containing protein 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8893878 Tacc3 transforming acidic coiled-coil containing protein 3 gene DOID:630 genetic disease ISO RGD:1353438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893878 Tacc3 transforming acidic coiled-coil containing protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1353438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8893898 Elf5 E74 like ETS transcription factor 5 gene DOID:1059 intellectual disability ISO RGD:1314143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8893898 Elf5 E74 like ETS transcription factor 5 gene DOID:630 genetic disease ISO RGD:1314143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893916 Mrpl45 mitochondrial ribosomal protein L45 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1312625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:24088041|PMID:26633545 8893916 Mrpl45 mitochondrial ribosomal protein L45 gene DOID:1936 atherosclerosis ISO RGD:1312625 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 8893916 Mrpl45 mitochondrial ribosomal protein L45 gene DOID:630 genetic disease ISO RGD:1312625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893931 Zfand6 zinc finger AN1-type containing 6 gene DOID:0050726 tyrosinemia type I ISO RGD:1345898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 8893931 Zfand6 zinc finger AN1-type containing 6 gene DOID:2717 Bloom syndrome ISO RGD:1345898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8893931 Zfand6 zinc finger AN1-type containing 6 gene DOID:37 skin disease ISO RGD:1345898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8893931 Zfand6 zinc finger AN1-type containing 6 gene DOID:630 genetic disease ISO RGD:1345898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893931 Zfand6 zinc finger AN1-type containing 6 gene DOID:9007964 Arsenic Poisoning ISO RGD:1345898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8893931 Zfand6 zinc finger AN1-type containing 6 gene DOID:9008456 Delayed Emergence from Anesthesia ISO RGD:1345898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115977 8893931 Zfand6 zinc finger AN1-type containing 6 gene DOID:9256 colorectal cancer ISO RGD:1345898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8893947 Rbm15b RNA binding motif protein 15B gene DOID:630 genetic disease ISO RGD:1350628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893957 Fam167b family with sequence similarity 167 member B gene DOID:630 genetic disease ISO RGD:1606487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893957 Fam167b family with sequence similarity 167 member B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8893968 Irgc immunity related GTPase cinema gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1606259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8893968 Irgc immunity related GTPase cinema gene DOID:5419 schizophrenia ISO RGD:1606259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8893968 Irgc immunity related GTPase cinema gene DOID:630 genetic disease ISO RGD:1606259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893974 LOC102020326 olfactory receptor 51A7 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1352941 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868 8893974 LOC102020326 olfactory receptor 51A7 gene DOID:0080773 delta beta-thalassemia ISO RGD:1352941 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8893974 LOC102020326 olfactory receptor 51A7 gene DOID:630 genetic disease ISO RGD:1352941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893980 Wwtr1 WW domain containing transcription regulator 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1349820 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8893980 Wwtr1 WW domain containing transcription regulator 1 gene DOID:12712 nephronophthisis ISO RGD:1617441 D RGD:9068941 20220825 MouseDO 8893980 Wwtr1 WW domain containing transcription regulator 1 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1349820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31494105 8893980 Wwtr1 WW domain containing transcription regulator 1 gene DOID:630 genetic disease ISO RGD:1349820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893980 Wwtr1 WW domain containing transcription regulator 1 gene DOID:767 muscular atrophy ISO RGD:1349820 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24550007 8893993 Mov10l1 Mov10 like RNA helicase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8893993 Mov10l1 Mov10 like RNA helicase 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8893993 Mov10l1 Mov10 like RNA helicase 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:35476666 8893993 Mov10l1 Mov10 like RNA helicase 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8893993 Mov10l1 Mov10 like RNA helicase 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8893993 Mov10l1 Mov10 like RNA helicase 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1345883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8893993 Mov10l1 Mov10 like RNA helicase 1 gene DOID:1059 intellectual disability ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8893993 Mov10l1 Mov10 like RNA helicase 1 gene DOID:14227 azoospermia ISO RGD:1345883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8893993 Mov10l1 Mov10 like RNA helicase 1 gene DOID:630 genetic disease ISO RGD:1345883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8893993 Mov10l1 Mov10 like RNA helicase 1 gene DOID:9004961 Spermatogenic Failure 73 ISO RGD:1345883 D RGD:7240710 20220518 OMIM 8893993 Mov10l1 Mov10 like RNA helicase 1 gene DOID:9004961 Spermatogenic Failure 73 ISO RGD:1345883 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 73 PMID:25741868|PMID:35476666 8894040 Thap7 THAP domain containing 7 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1317614 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8894040 Thap7 THAP domain containing 7 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1317614 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8894040 Thap7 THAP domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8894040 Thap7 THAP domain containing 7 gene DOID:11198 DiGeorge syndrome ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 8894040 Thap7 THAP domain containing 7 gene DOID:11372 megacolon ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8894040 Thap7 THAP domain containing 7 gene DOID:12583 velocardiofacial syndrome ISO RGD:1317614 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8894040 Thap7 THAP domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8894040 Thap7 THAP domain containing 7 gene DOID:1826 epilepsy ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8894040 Thap7 THAP domain containing 7 gene DOID:5419 schizophrenia ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8894040 Thap7 THAP domain containing 7 gene DOID:612 primary immunodeficiency disease ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8894040 Thap7 THAP domain containing 7 gene DOID:630 genetic disease ISO RGD:1317614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894040 Thap7 THAP domain containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8894049 Pigu phosphatidylinositol glycan anchor biosynthesis class U gene DOID:2843 long QT syndrome ISO RGD:1352875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8894049 Pigu phosphatidylinositol glycan anchor biosynthesis class U gene DOID:630 genetic disease ISO RGD:1352875 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8894049 Pigu phosphatidylinositol glycan anchor biosynthesis class U gene DOID:9007893 Glycosylphosphatidylinositol Biosynthesis Defect 21 ISO RGD:1352875 D RGD:7240710 20191002 OMIM 8894049 Pigu phosphatidylinositol glycan anchor biosynthesis class U gene DOID:9007893 Glycosylphosphatidylinositol Biosynthesis Defect 21 ISO RGD:1352875 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 21 PMID:17576681|PMID:25741868|PMID:28492532|PMID:31353022|PMID:9536098 8894065 Fbl fibrillarin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1313628 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8894065 Fbl fibrillarin gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8894065 Fbl fibrillarin gene DOID:1342 congenital hypoplastic anemia ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8894065 Fbl fibrillarin gene DOID:2340 craniosynostosis ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8894065 Fbl fibrillarin gene DOID:3910 lung adenocarcinoma ISO RGD:1313628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8894065 Fbl fibrillarin gene DOID:417 autoimmune disease ISO RGD:1313628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077085|PMID:8738957|PMID:9693280 8894065 Fbl fibrillarin gene DOID:630 genetic disease ISO RGD:1313628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894065 Fbl fibrillarin gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8894065 Fbl fibrillarin gene DOID:9006205 Animal Disease Models ISO RGD:1313628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8894065 Fbl fibrillarin gene DOID:9008939 Breast Neoplasms ISO RGD:1313628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8894065 Fbl fibrillarin gene DOID:9269 maple syrup urine disease ISO RGD:1313628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8894065 Fbl fibrillarin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1313628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8894089 Siglec15 sialic acid binding Ig like lectin 15 gene DOID:0060356 Vici syndrome ISO RGD:1604713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8894089 Siglec15 sialic acid binding Ig like lectin 15 gene DOID:1059 intellectual disability ISO RGD:1604713 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8894089 Siglec15 sialic acid binding Ig like lectin 15 gene DOID:630 genetic disease ISO RGD:1604713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894089 Siglec15 sialic acid binding Ig like lectin 15 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1604713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8894099 Ntm neurotrimin gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8894099 Ntm neurotrimin gene DOID:5419 schizophrenia ISO RGD:1603310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8894099 Ntm neurotrimin gene DOID:630 genetic disease ISO RGD:1603310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894099 Ntm neurotrimin gene DOID:65 connective tissue disease ISO RGD:1603310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8894099 Ntm neurotrimin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8894119 Tulp3 TUB like protein 3 gene DOID:0080322 polycystic kidney disease ISO RGD:1557674 D RGD:9068941 20220825 MouseDO 8894119 Tulp3 TUB like protein 3 gene DOID:630 genetic disease ISO RGD:1348382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35397207 8894119 Tulp3 TUB like protein 3 gene DOID:9006301 HEPATORENOCARDIAC DEGENERATIVE FIBROSIS ISO RGD:1348382 D RGD:7240710 20220810 OMIM 8894119 Tulp3 TUB like protein 3 gene DOID:9006301 HEPATORENOCARDIAC DEGENERATIVE FIBROSIS ISO RGD:1348382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hepatorenocardiac degenerative fibrosis PMID:25741868|PMID:35397207 8894119 Tulp3 TUB like protein 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8894119 Tulp3 TUB like protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8894134 Ttc39a tetratricopeptide repeat domain 39A gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1322418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8894134 Ttc39a tetratricopeptide repeat domain 39A gene DOID:630 genetic disease ISO RGD:1322418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894134 Ttc39a tetratricopeptide repeat domain 39A gene DOID:9007188 Liver Neoplasms ISO RGD:1322418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:0050850 diabetic encephalopathy ISO RGD:620897 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17601561|REF_RGD_ID:7771546 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:0060180 colitis severity ISO RGD:10785 D RGD:9068941 20200609 RGD PMID:22461024|REF_RGD_ID:7771532 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:0080600 COVID-19 ISO RGD:732954 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:732954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:9010448|REF_RGD_ID:2298698 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:10603 glucose intolerance resistance ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:16814733|REF_RGD_ID:2298673 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:10754 otitis media treatment ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:22610099|REF_RGD_ID:7771533 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:10762 portal hypertension ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stomach mucosa PMID:11758828|REF_RGD_ID:2298677 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:10762 portal hypertension ISO RGD:620897 D RGD:9068941 20240222 RGD protein:increased expression:gastric mucosa PMID:11679970|REF_RGD_ID:401976388 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:10763 hypertension ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:9231829|REF_RGD_ID:2298678 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:10908 hydrocephalus ISO RGD:732954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:17690186|REF_RGD_ID:2298694 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:11832 visual epilepsy ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:8626780|REF_RGD_ID:728656 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:11832 visual epilepsy ISO RGD:620897 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:8883936|REF_RGD_ID:2298690 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:12858 Huntington's disease treatment ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:23392662|REF_RGD_ID:7771544 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:1470 major depressive disorder ISO RGD:732954 D RGD:9068941 20200609 RGD mRNA:increased expression:dentated gyrus, hippocampus A1 PMID:20953200|REF_RGD_ID:7771583 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:1612 breast cancer ISO RGD:732954 D RGD:9068941 20200609 RGD protein:increased expression:T cell PMID:9724088|REF_RGD_ID:2298697 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:1612 breast cancer ISO RGD:732954 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:12618338|REF_RGD_ID:7495809 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:1612 breast cancer disease_progression ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:19417026|REF_RGD_ID:7495851 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:1612 breast cancer severity ISO RGD:732954 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:22333693|REF_RGD_ID:7495850 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732954 D RGD:9068941 20200609 RGD mRNA:increased expression:saliva PMID:23892499|REF_RGD_ID:7771538 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:224 transient cerebral ischemia ISO RGD:620897 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22197701|REF_RGD_ID:7771582 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:2349 arteriosclerosis ISO RGD:732955 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:15242861|REF_RGD_ID:2298676 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:2773 contact dermatitis ISO RGD:732954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:2773 contact dermatitis treatment ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:23076500|REF_RGD_ID:7771535 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:289 endometriosis ISO RGD:732954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:12432554|REF_RGD_ID:2298695 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:8587253|REF_RGD_ID:633769 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:4989 pancreatitis ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11027531|REF_RGD_ID:2301725 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:630 genetic disease ISO RGD:732954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:8893 psoriasis ISO RGD:732954 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin PMID:22924482|REF_RGD_ID:7495852 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620897 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:18630599|REF_RGD_ID:7771572 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:19383246|REF_RGD_ID:7771580 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:21094639|REF_RGD_ID:7495849 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620897 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22540262|PMID:22901764|REF_RGD_ID:7771531|REF_RGD_ID:7771574 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:12487923|REF_RGD_ID:7771581 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:19347983|REF_RGD_ID:7771584 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:732954 D RGD:9068941 20200609 RGD PMID:20837666|REF_RGD_ID:5129167 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:620897 D RGD:9068941 20240229 RGD PMID:21964194|REF_RGD_ID:401976490 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ventricle myocardium PMID:17647144|REF_RGD_ID:2298672 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620897 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:17063547|REF_RGD_ID:7771540 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9005882 Spine Osteoarthritis ISO RGD:732954 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:9546380|REF_RGD_ID:7771579 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9006478 Amyloid Neuropathies ISO RGD:732954 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:salivary gland, nerve PMID:16515552|REF_RGD_ID:7771547 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:732954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:17891520|PMID:20456451|PMID:25205790|PMID:26014430|PMID:28492532 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9065 leishmaniasis treatment ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:21471446|REF_RGD_ID:7771536 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:620897 D RGD:9068941 20200609 RGD PMID:7485483|REF_RGD_ID:2298693 8894159 Dusp1 dual specificity phosphatase 1 gene DOID:9970 obesity susceptibility ISO RGD:732955 D RGD:9068941 20200609 RGD PMID:16814733|REF_RGD_ID:2298673 8894167 Tktl1 transketolase like 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1351621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8894167 Tktl1 transketolase like 1 gene DOID:0050476 Barth syndrome ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8894167 Tktl1 transketolase like 1 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 8894167 Tktl1 transketolase like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8894167 Tktl1 transketolase like 1 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 8894167 Tktl1 transketolase like 1 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 8894167 Tktl1 transketolase like 1 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 8894167 Tktl1 transketolase like 1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 8894167 Tktl1 transketolase like 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 8894167 Tktl1 transketolase like 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1351621 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8894167 Tktl1 transketolase like 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8894167 Tktl1 transketolase like 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8894167 Tktl1 transketolase like 1 gene DOID:12849 autistic disorder ISO RGD:1351621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8894167 Tktl1 transketolase like 1 gene DOID:13628 favism ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8894167 Tktl1 transketolase like 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1351621 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8894167 Tktl1 transketolase like 1 gene DOID:607 paraplegia ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8894167 Tktl1 transketolase like 1 gene DOID:630 genetic disease ISO RGD:1351621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894167 Tktl1 transketolase like 1 gene DOID:9002720 Splenomegaly ISO RGD:1351621 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8894167 Tktl1 transketolase like 1 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 8894167 Tktl1 transketolase like 1 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1351621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 8894188 Cntn1 contactin 1 gene DOID:0080101 Compton-North congenital myopathy ISO RGD:732231 D RGD:7240710 20180130 OMIM 8894188 Cntn1 contactin 1 gene DOID:0080101 Compton-North congenital myopathy ISO RGD:732231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Compton-North congenital myopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:19026398|PMID:22242131|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8894188 Cntn1 contactin 1 gene DOID:630 genetic disease ISO RGD:732231 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8894188 Cntn1 contactin 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:621300 D RGD:9068941 20200609 RGD PMID:22044737|REF_RGD_ID:5685697 8894188 Cntn1 contactin 1 gene DOID:9004866 Ataxia ISO RGD:732232 D RGD:9068941 20200609 RGD PMID:10595523|REF_RGD_ID:734798 8894233 Elmo1 engulfment and cell motility 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1317811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8894233 Elmo1 engulfment and cell motility 1 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1317811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 8894233 Elmo1 engulfment and cell motility 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8894233 Elmo1 engulfment and cell motility 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1317811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 8894233 Elmo1 engulfment and cell motility 1 gene DOID:630 genetic disease ISO RGD:1317811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894233 Elmo1 engulfment and cell motility 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1317811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942768 8894279 Apobec4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8894279 Apobec4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 gene DOID:630 genetic disease ISO RGD:1606067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894279 Apobec4 apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8894285 Tab1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1314707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8894285 Tab1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1314707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8894285 Tab1 TGF-beta activated kinase 1 (MAP3K7) binding protein 1 gene DOID:630 genetic disease ISO RGD:1314707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894317 Lrrc28 leucine rich repeat containing 28 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1316267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8894317 Lrrc28 leucine rich repeat containing 28 gene DOID:630 genetic disease ISO RGD:1316267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894317 Lrrc28 leucine rich repeat containing 28 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8894331 Sdcbp syndecan binding protein gene DOID:630 genetic disease ISO RGD:1343667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894331 Sdcbp syndecan binding protein gene DOID:8398 osteoarthritis ISO RGD:1343667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8894346 Ctsz cathepsin Z gene DOID:0080600 COVID-19 ISO RGD:1352898 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8894346 Ctsz cathepsin Z gene DOID:630 genetic disease ISO RGD:1352898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894346 Ctsz cathepsin Z gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8894346 Ctsz cathepsin Z gene DOID:9005968 Neuralgia ISO RGD:708479 D RGD:9068941 20200609 RGD PMID:18700000|REF_RGD_ID:5686878 8894346 Ctsz cathepsin Z gene DOID:9119 acute myeloid leukemia ISO RGD:1352898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8894359 Lhfpl4 LHFPL tetraspan subfamily member 4 gene DOID:2843 long QT syndrome ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8894359 Lhfpl4 LHFPL tetraspan subfamily member 4 gene DOID:630 genetic disease ISO RGD:1604456 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894359 Lhfpl4 LHFPL tetraspan subfamily member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8894359 Lhfpl4 LHFPL tetraspan subfamily member 4 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1604456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8894373 B4galt5 beta-1,4-galactosyltransferase 5 gene DOID:0080600 COVID-19 ISO RGD:1320747 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8894373 B4galt5 beta-1,4-galactosyltransferase 5 gene DOID:2377 multiple sclerosis ISO RGD:1320747 D RGD:9068941 20200609 RGD mRNA:increased expression:white matter PMID:25216636|REF_RGD_ID:14390079 8894373 B4galt5 beta-1,4-galactosyltransferase 5 gene DOID:630 genetic disease ISO RGD:1320747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894373 B4galt5 beta-1,4-galactosyltransferase 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8894373 B4galt5 beta-1,4-galactosyltransferase 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8894385 Rab5a RAB5A, member RAS oncogene family gene DOID:0060417 3p deletion syndrome ISO RGD:1342715 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8894385 Rab5a RAB5A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1342715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894385 Rab5a RAB5A, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1342715 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8894400 Rttn rotatin gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1315475 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8894400 Rttn rotatin gene DOID:0070297 primary microcephaly ISO RGD:1315475 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868|PMID:26608784 8894400 Rttn rotatin gene DOID:1059 intellectual disability ISO RGD:1315475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8894400 Rttn rotatin gene DOID:10907 microcephaly ISO RGD:1315475 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26608784|PMID:26846091|PMID:28492532 8894400 Rttn rotatin gene DOID:1826 epilepsy ISO RGD:1315475 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868 8894400 Rttn rotatin gene DOID:630 genetic disease ISO RGD:1315475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8894400 Rttn rotatin gene DOID:6420 pulmonary valve stenosis ISO RGD:1315475 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8894400 Rttn rotatin gene DOID:8445 intestinal volvulus ISO RGD:1315475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8894400 Rttn rotatin gene DOID:9003865 Microcephaly, Short Stature, and Polymicrogyria with or without Seizures ISO RGD:1315475 D RGD:7240710 20180130 OMIM 8894400 Rttn rotatin gene DOID:9003865 Microcephaly, Short Stature, and Polymicrogyria with or without Seizures ISO RGD:1315475 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition PMID:16199547|PMID:22939636|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26608784|PMID:26846091|PMID:26940245|PMID:28492532|PMID:29883675|PMID:30121372 8894400 Rttn rotatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8894400 Rttn rotatin gene DOID:9008419 Volvulus Of Midgut ISO RGD:1315475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8894456 Rnf121 ring finger protein 121 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1317294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 8894456 Rnf121 ring finger protein 121 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1317294 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8894456 Rnf121 ring finger protein 121 gene DOID:1059 intellectual disability ISO RGD:1317294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8894456 Rnf121 ring finger protein 121 gene DOID:630 genetic disease ISO RGD:1317294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894468 Nup210 nucleoporin 210 gene DOID:0060417 3p deletion syndrome ISO RGD:1346505 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8894468 Nup210 nucleoporin 210 gene DOID:630 genetic disease ISO RGD:1346505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894513 Tlk2 tousled like kinase 2 gene DOID:1059 intellectual disability ISO RGD:1322082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:31558842 8894513 Tlk2 tousled like kinase 2 gene DOID:12849 autistic disorder ISO RGD:1322082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8894513 Tlk2 tousled like kinase 2 gene DOID:630 genetic disease ISO RGD:1322082 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35586607 8894513 Tlk2 tousled like kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8894513 Tlk2 tousled like kinase 2 gene DOID:9008582 Developmental Disease ISO RGD:1322082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8894513 Tlk2 tousled like kinase 2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1322082 D RGD:7240710 20190315 OMIM 8894513 Tlk2 tousled like kinase 2 gene DOID:9009194 Autosomal Dominant Intellectual Developmental Disorder 57 ISO RGD:1322082 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 57 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 57 | ClinVar Annotator: match by term: TLK2-related condition | ClinVar Annotator: match by term: TLK2-related neurodevelopmental disorder PMID:25741868|PMID:25741869|PMID:27479843|PMID:28492532|PMID:29861108|PMID:34821460|PMID:35586607 8894547 Dguok deoxyguanosine kinase gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1312453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8894547 Dguok deoxyguanosine kinase gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1312453 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:28492532 8894547 Dguok deoxyguanosine kinase gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1312453 D RGD:7240710 20180130 OMIM 8894547 Dguok deoxyguanosine kinase gene DOID:0080121 mitochondrial DNA depletion syndrome 3 ISO RGD:1312453 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral PMID:11687800|PMID:11983456|PMID:12205643|PMID:12210798|PMID:14568816|PMID:14623087|PMID:15639197|PMID:15887277|PMID:16263314|PMID:16908739|PMID:17073823|PMID:17452231|PMID:17576681|PMID:18205204|PMID:19103789|PMID:19265691|PMID:22622127|PMID:23043144|PMID:24321534|PMID:24642831|PMID:25131622|PMID:25326637|PMID:25741868|PMID:26874653|PMID:27324545|PMID:28492532|PMID:28493820|PMID:28902392|PMID:29137425|PMID:29228108|PMID:30283818|PMID:30366773|PMID:30393377|PMID:30589726|PMID:30956829|PMID:31664448|PMID:32482602|PMID:33486010|PMID:9175742|PMID:9536098 8894547 Dguok deoxyguanosine kinase gene DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312453 D RGD:7240710 20190315 OMIM 8894547 Dguok deoxyguanosine kinase gene DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ISO RGD:1312453 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 PMID:11983456|PMID:16908739|PMID:17073823|PMID:17452231|PMID:17576681|PMID:18205204|PMID:19125351|PMID:23043144|PMID:24423689|PMID:24642831|PMID:25326637|PMID:25741868|PMID:26874653|PMID:28492532|PMID:28493820|PMID:28902392|PMID:29137425|PMID:29228108|PMID:30283818|PMID:30393377|PMID:30589726|PMID:30956829|PMID:31664448|PMID:9536098 8894547 Dguok deoxyguanosine kinase gene DOID:10762 portal hypertension ISO RGD:1312453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8894547 Dguok deoxyguanosine kinase gene DOID:543 dystonia ISO RGD:1312453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8894547 Dguok deoxyguanosine kinase gene DOID:630 genetic disease ISO RGD:1312453 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12205643|PMID:14623087|PMID:19103789|PMID:23043144|PMID:25131622|PMID:25741868|PMID:27324545|PMID:28492532|PMID:28493820|PMID:28902392|PMID:29137425|PMID:29228108|PMID:30283818|PMID:30366773|PMID:30393377|PMID:30956829|PMID:31664448|PMID:32482602 8894547 Dguok deoxyguanosine kinase gene DOID:700 mitochondrial metabolism disease susceptibility ISO RGD:1312453 D RGD:9068941 20200609 RGD mitochondrial DNA depletion syndrome, hepatocerebral form, OMIM:251880;DNA:deletion: :204delA PMID:11687800|REF_RGD_ID:1601052 8894547 Dguok deoxyguanosine kinase gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8894547 Dguok deoxyguanosine kinase gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1312453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26342080 8894547 Dguok deoxyguanosine kinase gene DOID:9001065 Noncirrhotic Portal Hypertension 1 ISO RGD:1312453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 1 PMID:11983456|PMID:17073823|PMID:17452231|PMID:18205204|PMID:23043144|PMID:26874653|PMID:28492532 8894547 Dguok deoxyguanosine kinase gene DOID:9002775 Cognitive Dysfunction ISO RGD:1312453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868|PMID:28492532 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30410802|PMID:31785789|PMID:33798445|PMID:9536098 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:0080600 COVID-19 ISO RGD:737609 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: TMEM63B-associated disorder PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30410802|PMID:31785789|PMID:33798445|PMID:9536098 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:12859 choreatic disease ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:1825 childhood absence epilepsy ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:1826 epilepsy ISO RGD:737609 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:630 genetic disease ISO RGD:737609 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30410802|PMID:9536098 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:631360 D RGD:9068941 20200609 RGD PMID:28469787|REF_RGD_ID:13513983 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:737609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9004538 Hearing Loss ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798183 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9004866 Ataxia ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:631360 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:28469787|REF_RGD_ID:13513983 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:737609 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:28469787|REF_RGD_ID:13513983 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9007456 Female Infertility ISO RGD:737609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14660671 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:737609 D RGD:7240710 20190814 OMIM 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9009196 Cerebellar Atrophy with Seizures and Variable Developmental Delay ISO RGD:737609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay PMID:17576681|PMID:18487195|PMID:23339110|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29997391|PMID:30410802|PMID:31402629|PMID:9536098 8894559 Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737609 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8894626 Zmym2 zinc finger MYM-type containing 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1317868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22875613 8894626 Zmym2 zinc finger MYM-type containing 2 gene DOID:0080205 CAKUT ISO RGD:1317868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:32891193 8894626 Zmym2 zinc finger MYM-type containing 2 gene DOID:1059 intellectual disability ISO RGD:1317868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8894626 Zmym2 zinc finger MYM-type containing 2 gene DOID:1826 epilepsy ISO RGD:1317868 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8894626 Zmym2 zinc finger MYM-type containing 2 gene DOID:630 genetic disease ISO RGD:1317868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32891193 8894626 Zmym2 zinc finger MYM-type containing 2 gene DOID:9002414 NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES ISO RGD:1317868 D RGD:7240710 20211027 OMIM 8894626 Zmym2 zinc finger MYM-type containing 2 gene DOID:9002414 NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES ISO RGD:1317868 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities PMID:25741868|PMID:28191889|PMID:28492532|PMID:32891193|PMID:33004838 8894626 Zmym2 zinc finger MYM-type containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317868 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8894668 Tmem121 transmembrane protein 121 gene DOID:2661 myoepithelioma ISO RGD:1606775 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8894668 Tmem121 transmembrane protein 121 gene DOID:630 genetic disease ISO RGD:1606775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894677 Tbpl2 TATA-box binding protein like 2 gene DOID:630 genetic disease ISO RGD:1342829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894688 Sncg synuclein gamma gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1345963 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8894688 Sncg synuclein gamma gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1345963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8894688 Sncg synuclein gamma gene DOID:0080855 Parkinsonism ISO RGD:736643 D RGD:9068941 20200609 RGD PMID:15147505|REF_RGD_ID:6478802 8894688 Sncg synuclein gamma gene DOID:10652 Alzheimer's disease ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 8894688 Sncg synuclein gamma gene DOID:12217 Lewy body dementia ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:20697047|REF_RGD_ID:6478704 8894688 Sncg synuclein gamma gene DOID:12217 Lewy body dementia ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 8894688 Sncg synuclein gamma gene DOID:12217 Lewy body dementia ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:10557341|REF_RGD_ID:6480095 8894688 Sncg synuclein gamma gene DOID:14330 Parkinson's disease ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:10557341|REF_RGD_ID:6480095 8894688 Sncg synuclein gamma gene DOID:1596 depressive disorder ISO RGD:70996 D RGD:9068941 20200609 RGD PMID:18800064|REF_RGD_ID:6218960 8894688 Sncg synuclein gamma gene DOID:1612 breast cancer disease_progression ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16821081|REF_RGD_ID:6478795 8894688 Sncg synuclein gamma gene DOID:1686 glaucoma ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:18728752|REF_RGD_ID:6218971 8894688 Sncg synuclein gamma gene DOID:1686 glaucoma ISO RGD:70996 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:optic nerve PMID:11933054|REF_RGD_ID:6480100 8894688 Sncg synuclein gamma gene DOID:1793 pancreatic cancer ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:15221989|REF_RGD_ID:6478801 8894688 Sncg synuclein gamma gene DOID:305 carcinoma ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8894688 Sncg synuclein gamma gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:10934140|REF_RGD_ID:6480098 8894688 Sncg synuclein gamma gene DOID:630 genetic disease ISO RGD:1345963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894688 Sncg synuclein gamma gene DOID:768 retinoblastoma ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:18728752|REF_RGD_ID:6218971 8894688 Sncg synuclein gamma gene DOID:8725 vascular dementia ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:18577885|REF_RGD_ID:6478792 8894688 Sncg synuclein gamma gene DOID:9000081 Lymphatic Metastasis ISO RGD:1345963 D RGD:9068941 20200609 RGD PMID:15221989|REF_RGD_ID:6478801 8894688 Sncg synuclein gamma gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8894688 Sncg synuclein gamma gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345963 D RGD:9068941 20200609 RGD DNA:hypomethylation: : PMID:16140929|REF_RGD_ID:6478797 8894688 Sncg synuclein gamma gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345963 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16821081|REF_RGD_ID:6478795 8894688 Sncg synuclein gamma gene DOID:9000998 Brain Injuries ISO RGD:736643 D RGD:9068941 20200609 RGD PMID:14637093|REF_RGD_ID:6480195 8894688 Sncg synuclein gamma gene DOID:9002362 Hyperkinesis ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18588534 8894688 Sncg synuclein gamma gene DOID:9002955 Nerve Degeneration ISO RGD:736643 D RGD:9068941 20200609 RGD PMID:19246516|REF_RGD_ID:6478696 8894688 Sncg synuclein gamma gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8894688 Sncg synuclein gamma gene DOID:9005632 Cocaine-Related Disorders ISO RGD:70996 D RGD:9068941 20200609 RGD PMID:20579003|REF_RGD_ID:6218958 8894688 Sncg synuclein gamma gene DOID:9007402 Gliosis ISO RGD:736643 D RGD:9068941 20200609 RGD PMID:19246516|REF_RGD_ID:6478696 8894688 Sncg synuclein gamma gene DOID:9008939 Breast Neoplasms ISO RGD:1345963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20595634 8894729 Znf581 zinc finger protein 581 gene DOID:630 genetic disease ISO RGD:1343314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894742 Il31ra interleukin 31 receptor A gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:1344882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8894742 Il31ra interleukin 31 receptor A gene DOID:0080931 primary localized cutaneous amyloidosis 2 ISO RGD:1344882 D RGD:7240710 20180130 OMIM 8894742 Il31ra interleukin 31 receptor A gene DOID:0080931 primary localized cutaneous amyloidosis 2 ISO RGD:1344882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 2 PMID:19690585|PMID:25741868 8894742 Il31ra interleukin 31 receptor A gene DOID:630 genetic disease ISO RGD:1344882 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8894742 Il31ra interleukin 31 receptor A gene DOID:9000998 Brain Injuries ISO RGD:1344882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8894742 Il31ra interleukin 31 receptor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8894763 Gadd45g growth arrest and DNA damage inducible gamma gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:1311796 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:16736195|REF_RGD_ID:14700866 8894763 Gadd45g growth arrest and DNA damage inducible gamma gene DOID:630 genetic disease ISO RGD:1323436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894776 Fam174b family with sequence similarity 174 member B gene DOID:630 genetic disease ISO RGD:1606862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894788 Olig1 oligodendrocyte transcription factor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1350271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8894788 Olig1 oligodendrocyte transcription factor 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1350271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8894788 Olig1 oligodendrocyte transcription factor 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1350271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8894788 Olig1 oligodendrocyte transcription factor 1 gene DOID:630 genetic disease ISO RGD:1350271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894788 Olig1 oligodendrocyte transcription factor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1552169 D RGD:9068941 20201211 RGD PMID:24941845|REF_RGD_ID:40902822 8894788 Olig1 oligodendrocyte transcription factor 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1350271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8894794 Kiaa0232 KIAA0232 ortholog gene DOID:630 genetic disease ISO RGD:1602497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894819 Fnip2 folliculin interacting protein 2 gene DOID:630 genetic disease ISO RGD:2292121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894819 Fnip2 folliculin interacting protein 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:12121120 D RGD:9068941 20230615 OMIA Hypomyelination of the central nervous system PMID:20973788|PMID:24272703|PMID:3577694|PMID:676669|PMID:731520|PMID:7315204 8894848 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:1227 neutropenia ISO RGD:734113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369036 8894848 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:734113 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:33025377 8894848 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:630 genetic disease ISO RGD:734113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8894848 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:8692 myeloid leukemia ISO RGD:734113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369036 8894848 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:734113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28369034|PMID:28369036 8894848 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9006809 Specific Granule Deficiency 2 ISO RGD:734113 D RGD:7240710 20190327 OMIM 8894848 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9006809 Specific Granule Deficiency 2 ISO RGD:734113 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Specific granule deficiency 2 PMID:25741868|PMID:28369036|PMID:28492532|PMID:33025377|PMID:35320004 8894848 Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 gene DOID:9009082 Specific Granule Deficiency 1 ISO RGD:734113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific granule deficiency 1 PMID:28369036 8894866 Slc34a2 solute carrier family 34 member 2 gene DOID:12117 pulmonary alveolar microlithiasis ISO RGD:733113 D RGD:7240710 20180130 OMIM 8894866 Slc34a2 solute carrier family 34 member 2 gene DOID:12117 pulmonary alveolar microlithiasis ISO RGD:733113 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: PULMONARY ALVEOLAR MICROLITHIASIS PMID:11287838|PMID:16960801|PMID:24033266|PMID:25741868|PMID:28492532 8894866 Slc34a2 solute carrier family 34 member 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617245|PMID:22919003 8894866 Slc34a2 solute carrier family 34 member 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733113 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8894866 Slc34a2 solute carrier family 34 member 2 gene DOID:630 genetic disease ISO RGD:733113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8894866 Slc34a2 solute carrier family 34 member 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733113 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 8894896 Myl7 myosin light chain 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 8894896 Myl7 myosin light chain 7 gene DOID:14250 Down syndrome ISO RGD:1317935 D RGD:9068941 20200609 RGD PMID:12083776|REF_RGD_ID:1580934 8894896 Myl7 myosin light chain 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8894896 Myl7 myosin light chain 7 gene DOID:630 genetic disease ISO RGD:1317934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894907 Tnfrsf21 TNF receptor superfamily member 21 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24113175 8894907 Tnfrsf21 TNF receptor superfamily member 21 gene DOID:630 genetic disease ISO RGD:1316426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894907 Tnfrsf21 TNF receptor superfamily member 21 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11753679 8894907 Tnfrsf21 TNF receptor superfamily member 21 gene DOID:9007402 Gliosis ISO RGD:1316426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24113175 8894917 Cfdp1 craniofacial development protein 1 gene DOID:2565 macular corneal dystrophy ISO RGD:1346060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 8894917 Cfdp1 craniofacial development protein 1 gene DOID:607 paraplegia ISO RGD:1346060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8894917 Cfdp1 craniofacial development protein 1 gene DOID:630 genetic disease ISO RGD:1346060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894931 Ppfibp1 PPFIA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1320664 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:35830857 8894931 Ppfibp1 PPFIA binding protein 1 gene DOID:1826 epilepsy ISO RGD:1320664 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:35830857 8894931 Ppfibp1 PPFIA binding protein 1 gene DOID:3677 pulmonary plasma cell granuloma ISO RGD:1320664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21430068 8894931 Ppfibp1 PPFIA binding protein 1 gene DOID:630 genetic disease ISO RGD:1320664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894931 Ppfibp1 PPFIA binding protein 1 gene DOID:9006383 Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities ISO RGD:1320664 D RGD:7240710 20221116 OMIM 8894931 Ppfibp1 PPFIA binding protein 1 gene DOID:9006383 Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities ISO RGD:1320664 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities PMID:25741868|PMID:35830857 8894984 Fstl3 follistatin like 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1348302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8894984 Fstl3 follistatin like 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1348302 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8894984 Fstl3 follistatin like 3 gene DOID:630 genetic disease ISO RGD:1348302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8894995 Tgif2lx TGFB induced factor homeobox 2 like X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8894995 Tgif2lx TGFB induced factor homeobox 2 like X-linked gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1351295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 8894995 Tgif2lx TGFB induced factor homeobox 2 like X-linked gene DOID:12849 autistic disorder ISO RGD:1351295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8894995 Tgif2lx TGFB induced factor homeobox 2 like X-linked gene DOID:630 genetic disease ISO RGD:1351295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895000 Fam8a1 family with sequence similarity 8 member A1 gene DOID:630 genetic disease ISO RGD:1351875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895018 Gldn gliomedin gene DOID:0080600 COVID-19 ISO RGD:1344164 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8895018 Gldn gliomedin gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8895018 Gldn gliomedin gene DOID:2717 Bloom syndrome ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8895018 Gldn gliomedin gene DOID:607 paraplegia ISO RGD:1344164 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 8895018 Gldn gliomedin gene DOID:630 genetic disease ISO RGD:1344164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8895018 Gldn gliomedin gene DOID:8488 polyhydramnios ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868|PMID:27616481|PMID:28726266|PMID:31680349 8895018 Gldn gliomedin gene DOID:9000943 Lethal Congenital Contracture Syndrome 11 ISO RGD:1344164 D RGD:7240710 20190315 OMIM 8895018 Gldn gliomedin gene DOID:9000943 Lethal Congenital Contracture Syndrome 11 ISO RGD:1344164 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11 PMID:25741868|PMID:27616481|PMID:28726266|PMID:31680123|PMID:31680349|PMID:32860008|PMID:33820833|PMID:35740734|PMID:35806855 8895018 Gldn gliomedin gene DOID:9006836 Contracture ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868|PMID:28726266 8895018 Gldn gliomedin gene DOID:9256 colorectal cancer ISO RGD:1344164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8895032 Klk5 kallikrein related peptidase 5 gene DOID:630 genetic disease ISO RGD:1320514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895032 Klk5 kallikrein related peptidase 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320514 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16517595 8895061 Mtmr9 myotubularin related protein 9 gene DOID:630 genetic disease ISO RGD:735915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895061 Mtmr9 myotubularin related protein 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8895061 Mtmr9 myotubularin related protein 9 gene DOID:9006646 Metabolic Syndrome ISO RGD:735915 D RGD:9068941 20230622 RGD DNA:SNP: :rs2293855 (human) PMID:21796137|REF_RGD_ID:329853776 8895075 Rnase9 ribonuclease A family member 9 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1343484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8895075 Rnase9 ribonuclease A family member 9 (inactive) gene DOID:630 genetic disease ISO RGD:1343484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895084 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0050857 Perrault syndrome ISO RGD:1352732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:21464306|PMID:517579 8895084 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1352732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8895084 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8895084 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:0110842 Usher syndrome type 3B ISO RGD:1352732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:28492532 8895084 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1352732 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:31827252 8895084 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1352732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8895084 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9002768 Perrault Syndrome 2 ISO RGD:1352732 D RGD:7240710 20180130 OMIM 8895084 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9002768 Perrault Syndrome 2 ISO RGD:1352732 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Perrault syndrome 2 PMID:21464306|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31449985|PMID:31486067|PMID:31827252|PMID:34416374|PMID:517579 8895084 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8895084 Hars2 histidyl-tRNA synthetase 2, mitochondrial gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8895105 Coasy Coenzyme A synthase gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1354088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:21264299|PMID:24360804|PMID:25741868|PMID:27021474|PMID:28357284|PMID:28489334|PMID:28492532|PMID:28688840|PMID:33644862 8895105 Coasy Coenzyme A synthase gene DOID:0110740 neurodegeneration with brain iron accumulation 6 ISO RGD:1354088 D RGD:7240710 20180130 OMIM 8895105 Coasy Coenzyme A synthase gene DOID:0110740 neurodegeneration with brain iron accumulation 6 ISO RGD:1354088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6 PMID:16199547|PMID:17576681|PMID:21264299|PMID:24360804|PMID:25741868|PMID:27021474|PMID:28106320|PMID:28357284|PMID:28489334|PMID:28492532|PMID:28688840|PMID:30089828|PMID:31130284|PMID:33644862|PMID:9536098 8895105 Coasy Coenzyme A synthase gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1354088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 8895105 Coasy Coenzyme A synthase gene DOID:0112327 pontocerebellar hypoplasia type 12 ISO RGD:1354088 D RGD:7240710 20190315 OMIM 8895105 Coasy Coenzyme A synthase gene DOID:0112327 pontocerebellar hypoplasia type 12 ISO RGD:1354088 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: COASY-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 12 PMID:16199547|PMID:24360804|PMID:25741868|PMID:28492532|PMID:30089828|PMID:36495139 8895105 Coasy Coenzyme A synthase gene DOID:12801 mucopolysaccharidosis III susceptibility ISO RGD:1354088 D RGD:9068941 20200609 RGD DNA:nonsense mutation, splice-site mutation, missense mutations:multiple PMID:11153910|REF_RGD_ID:1642057 8895105 Coasy Coenzyme A synthase gene DOID:630 genetic disease ISO RGD:1354088 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24360804|PMID:25741868|PMID:28106320|PMID:28492532|PMID:30089828 8895105 Coasy Coenzyme A synthase gene DOID:9002543 Myopathy with Abnormal Lipid Metabolism ISO RGD:1354088 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Lipid storage myopathy PMID:28492532 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0040084 Streptococcus pneumonia severity ISO RGD:1315104 D RGD:9068941 20200911 RGD PMID:17322108|REF_RGD_ID:38599154 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050211 swine influenza ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:27468760|REF_RGD_ID:38599196 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050211 swine influenza severity ISO RGD:1315103 D RGD:9068941 20200917 RGD DNA:misense mutation, substitution:cds:S1635Y, D2850D (rs17847825, rs2230460 ) (human) PMID:29867955|REF_RGD_ID:38599181 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050211 swine influenza severity ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:29867955|REF_RGD_ID:38599181 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0050902 medulloblastoma ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21652733 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0060180 colitis ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:21244371|REF_RGD_ID:6482682 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:0081267 graft-versus-host disease ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:21402770|REF_RGD_ID:6482681 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:10126 keratoconus ISO RGD:1315103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:10283 prostate cancer ISO RGD:1315103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:10652 Alzheimer's disease ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20025958|REF_RGD_ID:6482689 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:12849 autistic disorder ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14627686 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:12849 autistic disorder ISO RGD:1315103 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1129293 (human) PMID:14627686|REF_RGD_ID:6482702 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:13622 campylobacteriosis treatment ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:23180818|REF_RGD_ID:38599193 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:14069 cerebral malaria ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:25775137|REF_RGD_ID:38599200 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:1485 cystic fibrosis ISO RGD:1315103 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:25741868 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:1936 atherosclerosis severity ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:17483449|REF_RGD_ID:1642394 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:2841 asthma ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:18754810|REF_RGD_ID:6482695 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:2843 long QT syndrome ISO RGD:1315103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1315103 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (human) PMID:20876794|REF_RGD_ID:14390130 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:399 tuberculosis ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:30514491|REF_RGD_ID:38599199 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:5082 liver cirrhosis treatment ISO RGD:1306468 D RGD:9068941 20200917 RGD associated with Schistosomiasis Japonica PMID:29323718|REF_RGD_ID:38599216 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:5844 myocardial infarction ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20056919|REF_RGD_ID:6482688 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:6000 congestive heart failure ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12963636 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:6000 congestive heart failure ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:15936620|REF_RGD_ID:6482699 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:1315103 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:820 myocarditis ISO RGD:1315104 D RGD:9068941 20200917 RGD associated with endotoxemia PMID:20028656|REF_RGD_ID:38599186 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:8632 Kaposi's sarcoma treatment ISO RGD:1315104 D RGD:9068941 20201218 RGD PMID:21665152|REF_RGD_ID:38599159 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:8947 diabetic retinopathy ISO RGD:1306468 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9000099 Experimental Colitis susceptibility ISO RGD:1315104 D RGD:9068941 20200917 RGD PMID:20347874|REF_RGD_ID:38599183 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9000784 Fibrosis ISO RGD:1306468 D RGD:9068941 20200609 RGD PMID:21866628|REF_RGD_ID:6482708 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9000784 Fibrosis ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12963636 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:16374167|REF_RGD_ID:6482697 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9002457 Experimental Arthritis ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:18412166|PMID:20374644|REF_RGD_ID:6482684|REF_RGD_ID:6482696 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20303183|REF_RGD_ID:6482686 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9003936 Cardiomegaly ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12963636 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004179 Immunodeficiency 97 with Autoinflammation ISO RGD:1315103 D RGD:7240710 20220413 OMIM 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004179 Immunodeficiency 97 with Autoinflammation ISO RGD:1315103 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 97 with autoinflammation PMID:31554793|PMID:33054089 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004422 Chagas Cardiomyopathy ISO RGD:1315104 D RGD:9068941 20200911 RGD mRNA:increased expression:heart (mouse) PMID:29666415|REF_RGD_ID:38599151 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004422 Chagas Cardiomyopathy disease_progression ISO RGD:1315103 D RGD:9068941 20200911 RGD mRNA:increased expression:heart (human) PMID:29666415|REF_RGD_ID:38599151 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004422 Chagas Cardiomyopathy disease_progression ISO RGD:1315104 D RGD:9068941 20200911 RGD PMID:29666415|REF_RGD_ID:38599151 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004484 Sepsis ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20508212|REF_RGD_ID:6482683 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004610 Acute Lung Injury ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:22198681|REF_RGD_ID:6482677 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9004610 Acute Lung Injury ISO RGD:1315104 D RGD:9068941 20200917 RGD associated with endotoxemia PMID:11714830|REF_RGD_ID:38599213 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9005372 Inflammation ISO RGD:1306468 D RGD:9068941 20200609 RGD PMID:17526805|REF_RGD_ID:1642429 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9007096 Stroke ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:21546487|REF_RGD_ID:6482678 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:20179753|REF_RGD_ID:6482687 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9008104 Cancer Pain ISO RGD:1306468 D RGD:9068941 20220505 RGD mRNA, protein:increased expression:spinal cord (rat) PMID:25919859|REF_RGD_ID:152025537 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315104 D RGD:9068941 20200609 RGD associated with Colitis PMID:20004201|REF_RGD_ID:6482694 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9074 systemic lupus erythematosus ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:16365454|REF_RGD_ID:6482698 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:1315103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 8895123 Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma gene DOID:9970 obesity ISO RGD:1315104 D RGD:9068941 20200609 RGD PMID:21949398|REF_RGD_ID:6482700 8895145 Il13 interleukin 13 gene DOID:0050127 sinusitis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20358028 8895145 Il13 interleukin 13 gene DOID:0050127 sinusitis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) PMID:20358028|REF_RGD_ID:4145767 8895145 Il13 interleukin 13 gene DOID:0060496 respiratory allergy ISO RGD:69009 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19564030|REF_RGD_ID:4145637 8895145 Il13 interleukin 13 gene DOID:0060496 respiratory allergy susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, exon:-1112C>T, p.R130Q (human) PMID:18849614|REF_RGD_ID:8549507 8895145 Il13 interleukin 13 gene DOID:0060500 drug allergy ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 8895145 Il13 interleukin 13 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18802068|REF_RGD_ID:4145478 8895145 Il13 interleukin 13 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69008 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8895145 Il13 interleukin 13 gene DOID:0080600 COVID-19 severity ISO RGD:69008 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 8895145 Il13 interleukin 13 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19951958|REF_RGD_ID:8549563 8895145 Il13 interleukin 13 gene DOID:10966 lipoid nephrosis ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:17429054|REF_RGD_ID:2290347 8895145 Il13 interleukin 13 gene DOID:11132 prostatic hypertrophy ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:20945403|REF_RGD_ID:5684375 8895145 Il13 interleukin 13 gene DOID:11204 allergic conjunctivitis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:9191598|REF_RGD_ID:8549533 8895145 Il13 interleukin 13 gene DOID:11204 allergic conjunctivitis ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Allergic Rhinitis;DNA:SNPs, haplotype:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) PMID:22023794|REF_RGD_ID:8549595 8895145 Il13 interleukin 13 gene DOID:11263 chlamydia ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:21573182|REF_RGD_ID:5684365 8895145 Il13 interleukin 13 gene DOID:11396 pulmonary edema ISO RGD:69008 D RGD:9068941 20200609 RGD aosciated with Enterovirus Infections PMID:15635619|REF_RGD_ID:4145737 8895145 Il13 interleukin 13 gene DOID:11678 onchocerciasis severity ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22805723|REF_RGD_ID:8549600 8895145 Il13 interleukin 13 gene DOID:11963 esophagitis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:20543112|REF_RGD_ID:4145528 8895145 Il13 interleukin 13 gene DOID:1205 allergic disease ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8895145 Il13 interleukin 13 gene DOID:1205 allergic disease ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter, 3' utr:-1055C>T, 4738G>A (human) PMID:11588017|REF_RGD_ID:4765128 8895145 Il13 interleukin 13 gene DOID:12306 vitiligo treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:23680073|REF_RGD_ID:8549591 8895145 Il13 interleukin 13 gene DOID:12351 alcoholic hepatitis ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16698589|REF_RGD_ID:1581860 8895145 Il13 interleukin 13 gene DOID:12361 Graves' disease disease_progression ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1112C>T (rs1800925) (human) PMID:21235536|REF_RGD_ID:7829719 8895145 Il13 interleukin 13 gene DOID:12361 Graves' disease susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) PMID:15483090|REF_RGD_ID:8549544 8895145 Il13 interleukin 13 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:18250447|REF_RGD_ID:4145641 8895145 Il13 interleukin 13 gene DOID:12849 autistic disorder ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218 8895145 Il13 interleukin 13 gene DOID:12894 Sjogren's syndrome ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051401|REF_RGD_ID:8549582 8895145 Il13 interleukin 13 gene DOID:13141 uveitis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:17392164|REF_RGD_ID:4145496 8895145 Il13 interleukin 13 gene DOID:13141 uveitis treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:11481267|REF_RGD_ID:8549551 8895145 Il13 interleukin 13 gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20416219|REF_RGD_ID:4145765 8895145 Il13 interleukin 13 gene DOID:13378 Kawasaki disease ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:21958311|REF_RGD_ID:5684363 8895145 Il13 interleukin 13 gene DOID:13976 peptic esophagitis ISO RGD:68949 D RGD:9068941 20200609 RGD associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid PMID:18222984|REF_RGD_ID:2307110 8895145 Il13 interleukin 13 gene DOID:14067 Plasmodium falciparum malaria ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21985368|REF_RGD_ID:5684362 8895145 Il13 interleukin 13 gene DOID:1485 cystic fibrosis ISO RGD:69008 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchoalveolar lavage fluid PMID:15463872|REF_RGD_ID:4312589 8895145 Il13 interleukin 13 gene DOID:1580 diffuse scleroderma ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, enhancer: (rs1800925, rs2243204) (human) PMID:16832637|REF_RGD_ID:5684369 8895145 Il13 interleukin 13 gene DOID:1793 pancreatic cancer ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:12808442|REF_RGD_ID:2317670 8895145 Il13 interleukin 13 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18758789|REF_RGD_ID:2317669 8895145 Il13 interleukin 13 gene DOID:1883 hepatitis C ISO RGD:69008 D RGD:9068941 20201112 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 8895145 Il13 interleukin 13 gene DOID:1883 hepatitis C disease_progression ISO RGD:69008 D RGD:9068941 20201112 RGD protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 8895145 Il13 interleukin 13 gene DOID:2048 autoimmune hepatitis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 8895145 Il13 interleukin 13 gene DOID:2377 multiple sclerosis ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22031307|REF_RGD_ID:5684368 8895145 Il13 interleukin 13 gene DOID:2377 multiple sclerosis severity ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:21677024|REF_RGD_ID:8549589 8895145 Il13 interleukin 13 gene DOID:2723 dermatitis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31330126 8895145 Il13 interleukin 13 gene DOID:2723 dermatitis ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs20541 (human) PMID:23171465|REF_RGD_ID:8549505 8895145 Il13 interleukin 13 gene DOID:2773 contact dermatitis treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19951958|REF_RGD_ID:8549563 8895145 Il13 interleukin 13 gene DOID:2799 bronchiolitis obliterans ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:17182591|REF_RGD_ID:4146242 8895145 Il13 interleukin 13 gene DOID:2799 bronchiolitis obliterans ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:17182591|REF_RGD_ID:4146242 8895145 Il13 interleukin 13 gene DOID:2841 asthma ISO RGD:69008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:10699178|PMID:11588017|PMID:11709756|PMID:12847555|PMID:12928861|PMID:15356556|PMID:15483090|PMID:15711639|PMID:15879126 8895145 Il13 interleukin 13 gene DOID:2841 asthma no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R130Q (human) PMID:11678850|REF_RGD_ID:4763761 8895145 Il13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.-1055C>T (human) PMID:20198887|REF_RGD_ID:4145593 8895145 Il13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11758895|REF_RGD_ID:4763153 8895145 Il13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:18328894|REF_RGD_ID:4145777 8895145 Il13 interleukin 13 gene DOID:2841 asthma severity ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:18258919|REF_RGD_ID:4145639 8895145 Il13 interleukin 13 gene DOID:2841 asthma susceptibility ISO RGD:69008 D RGD:7240710 20190502 OMIM 8895145 Il13 interleukin 13 gene DOID:2957 pulmonary tuberculosis ISO RGD:69008 D RGD:9068941 20200609 RGD mRNA:increased expression:Leukocytes, Mononuclear PMID:10608794|REF_RGD_ID:4145649 8895145 Il13 interleukin 13 gene DOID:3008 invasive ductal carcinoma ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:22135852|REF_RGD_ID:8549515 8895145 Il13 interleukin 13 gene DOID:3044 food allergy ISO RGD:69009 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine PMID:22038918|REF_RGD_ID:5684372 8895145 Il13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:c.-1055 C>T (human) PMID:15820084|REF_RGD_ID:4145714 8895145 Il13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism: :c. 1103C>T (human) PMID:15308043|REF_RGD_ID:4145668 8895145 Il13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c.-1055C>T (human) PMID:19995275|REF_RGD_ID:4145596 8895145 Il13 interleukin 13 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human) PMID:19796199|REF_RGD_ID:4145601 8895145 Il13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437|PMID:22355542 8895145 Il13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:16672002|REF_RGD_ID:8549583 8895145 Il13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:exon:4257G>A (human) PMID:10887320|REF_RGD_ID:8549529 8895145 Il13 interleukin 13 gene DOID:3310 atopic dermatitis ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3091307, rs20541 (human) PMID:21913997|REF_RGD_ID:5684364 8895145 Il13 interleukin 13 gene DOID:3310 atopic dermatitis severity ISO RGD:69008 D RGD:9068941 20200609 RGD DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) PMID:23317483|REF_RGD_ID:8549509 8895145 Il13 interleukin 13 gene DOID:3310 atopic dermatitis severity ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:17313488|REF_RGD_ID:8549539 8895145 Il13 interleukin 13 gene DOID:3310 atopic dermatitis treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19006098|REF_RGD_ID:8549531 8895145 Il13 interleukin 13 gene DOID:3326 purpura susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human) PMID:16166103|REF_RGD_ID:11528572 8895145 Il13 interleukin 13 gene DOID:350 mastocytosis ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1112C>T (rs1800925) (human) PMID:19178408|REF_RGD_ID:8549523 8895145 Il13 interleukin 13 gene DOID:3525 middle cerebral artery infarction ISO RGD:68949 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:23028794|REF_RGD_ID:7204480 8895145 Il13 interleukin 13 gene DOID:3770 pulmonary fibrosis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15322207 8895145 Il13 interleukin 13 gene DOID:3770 pulmonary fibrosis ISO RGD:69008 D RGD:9068941 20200609 RGD idiopathic pulmonary fibrosis PMID:19654941|REF_RGD_ID:4145627 8895145 Il13 interleukin 13 gene DOID:3770 pulmonary fibrosis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:20176803|REF_RGD_ID:4888529 8895145 Il13 interleukin 13 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 8895145 Il13 interleukin 13 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 8895145 Il13 interleukin 13 gene DOID:4001 ovarian carcinoma ISO RGD:69008 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tumor,ascites:mRNA increased relative to normal ovary, protein increased in tumor tissue/cancer ascites relative to normal ovary/ascites PMID:14984938|REF_RGD_ID:2290344 8895145 Il13 interleukin 13 gene DOID:418 systemic scleroderma ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9034992|REF_RGD_ID:5684371 8895145 Il13 interleukin 13 gene DOID:418 systemic scleroderma ISO RGD:69009 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin PMID:15564778|REF_RGD_ID:5684370 8895145 Il13 interleukin 13 gene DOID:418 systemic scleroderma no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) PMID:22045834|REF_RGD_ID:8549502 8895145 Il13 interleukin 13 gene DOID:4376 milk allergy ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Dermatitis, Atopic; DNA:missense mutation:cds:p.R130Q (c.389G>A) (rs20541) (human) PMID:19220774|REF_RGD_ID:8549541 8895145 Il13 interleukin 13 gene DOID:4377 egg allergy ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Dermatitis, Atopic; DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (c.389G>A) (rs1800925, rs20541) (human) PMID:19220774|REF_RGD_ID:8549541 8895145 Il13 interleukin 13 gene DOID:4378 peanut allergy ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Dermatitis, Atopic; DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (c.389G>A) (rs1800925, rs20541) (human) PMID:19220774|REF_RGD_ID:8549541 8895145 Il13 interleukin 13 gene DOID:4404 occupational dermatitis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19254288|REF_RGD_ID:8549579 8895145 Il13 interleukin 13 gene DOID:4450 renal cell carcinoma ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22317767 8895145 Il13 interleukin 13 gene DOID:4481 allergic rhinitis ISO RGD:69008 D RGD:9068941 20230216 CTD CTD Direct Evidence: marker/mechanism 8895145 Il13 interleukin 13 gene DOID:4481 allergic rhinitis no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) PMID:12928861|REF_RGD_ID:8549516 8895145 Il13 interleukin 13 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:69008 D RGD:7240710 20190502 OMIM 8895145 Il13 interleukin 13 gene DOID:4483 rhinitis ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20696593|REF_RGD_ID:4145454 8895145 Il13 interleukin 13 gene DOID:4483 rhinitis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:16120094|REF_RGD_ID:4206706 8895145 Il13 interleukin 13 gene DOID:4483 rhinitis disease_progression ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:17088137|REF_RGD_ID:4159171 8895145 Il13 interleukin 13 gene DOID:4483 rhinitis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1800925 (human) PMID:20484924|REF_RGD_ID:4145534 8895145 Il13 interleukin 13 gene DOID:4483 rhinitis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) PMID:20358028|REF_RGD_ID:4145767 8895145 Il13 interleukin 13 gene DOID:4989 pancreatitis ISO RGD:68949 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20100461|REF_RGD_ID:4145466 8895145 Il13 interleukin 13 gene DOID:4989 pancreatitis ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20100461|REF_RGD_ID:4145466 8895145 Il13 interleukin 13 gene DOID:552 pneumonia ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8895145 Il13 interleukin 13 gene DOID:552 pneumonia ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:bronchoalveolar lavage fluid PMID:19695190|REF_RGD_ID:4145774 8895145 Il13 interleukin 13 gene DOID:630 genetic disease ISO RGD:69008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895145 Il13 interleukin 13 gene DOID:6432 pulmonary hypertension ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Scleroderma, Limited;protein:increased expression:plasma PMID:21425123|REF_RGD_ID:8549528 8895145 Il13 interleukin 13 gene DOID:6432 pulmonary hypertension ISO RGD:69008 D RGD:9068941 20200609 RGD associated with sclerosis; protein:increased expression:plasma (human) PMID:19799786|REF_RGD_ID:4145600 8895145 Il13 interleukin 13 gene DOID:7148 rheumatoid arthritis ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051401|REF_RGD_ID:8549582 8895145 Il13 interleukin 13 gene DOID:841 extrinsic allergic alveolitis ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:9916735|REF_RGD_ID:4145650 8895145 Il13 interleukin 13 gene DOID:841 extrinsic allergic alveolitis ISO RGD:69009 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20861649|REF_RGD_ID:5128548 8895145 Il13 interleukin 13 gene DOID:8472 localized scleroderma ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12920362|REF_RGD_ID:8549537 8895145 Il13 interleukin 13 gene DOID:850 lung disease ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22355542 8895145 Il13 interleukin 13 gene DOID:850 lung disease ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Behcet Syndrome; protein:increased expression:Bronchoalveolar lavage fluid PMID:20716936|REF_RGD_ID:4145526 8895145 Il13 interleukin 13 gene DOID:850 lung disease ISO RGD:69009 D RGD:9068941 20200609 RGD acute lung injury PMID:17404281|REF_RGD_ID:4145647 8895145 Il13 interleukin 13 gene DOID:8893 psoriasis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 8895145 Il13 interleukin 13 gene DOID:8893 psoriasis no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) PMID:21349879|REF_RGD_ID:8549517 8895145 Il13 interleukin 13 gene DOID:8893 psoriasis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs20541) (human) PMID:23617596|REF_RGD_ID:8549593 8895145 Il13 interleukin 13 gene DOID:9000081 Lymphatic Metastasis ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Melanoma, Cutaneous Malignant;mRNA:increased expression:lymph node PMID:17545514|REF_RGD_ID:8549587 8895145 Il13 interleukin 13 gene DOID:9000156 Metaplasia ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21203431 8895145 Il13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12654629|PMID:23434795 8895145 Il13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:12669034|REF_RGD_ID:4761594 8895145 Il13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:69009 D RGD:9068941 20200609 RGD associated with Eosinophilic enteropathy PMID:15236177|REF_RGD_ID:4145432 8895145 Il13 interleukin 13 gene DOID:9000772 Bronchial Hyperreactivity susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1055C>T (human) PMID:11588017|REF_RGD_ID:4765128 8895145 Il13 interleukin 13 gene DOID:9000784 Fibrosis treatment ISO RGD:68949 D RGD:9068941 20200609 RGD associated with Venous Thrombosis PMID:12947342|REF_RGD_ID:8549644 8895145 Il13 interleukin 13 gene DOID:9001472 Nasal Polyps ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;protein:increased expression:serum PMID:23969075|REF_RGD_ID:8549540 8895145 Il13 interleukin 13 gene DOID:9001488 Human Influenza ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20003352|REF_RGD_ID:4888530 8895145 Il13 interleukin 13 gene DOID:9002211 Hyperalgesia treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:11399514|REF_RGD_ID:8549555 8895145 Il13 interleukin 13 gene DOID:9002221 Hyperplasia ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19342650 8895145 Il13 interleukin 13 gene DOID:9002287 Respiratory Tract Granuloma treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:10857756|REF_RGD_ID:8549624 8895145 Il13 interleukin 13 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:15902684|REF_RGD_ID:8549607 8895145 Il13 interleukin 13 gene DOID:9002457 Experimental Arthritis ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10444273 8895145 Il13 interleukin 13 gene DOID:9002457 Experimental Arthritis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:17665443|REF_RGD_ID:4889497 8895145 Il13 interleukin 13 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:11860705|REF_RGD_ID:8549606 8895145 Il13 interleukin 13 gene DOID:9002605 Delayed Hypersensitivity treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:19951958|REF_RGD_ID:8549563 8895145 Il13 interleukin 13 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:7523520|REF_RGD_ID:5684367 8895145 Il13 interleukin 13 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:18250480|REF_RGD_ID:5684366 8895145 Il13 interleukin 13 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159|PMID:22967010 8895145 Il13 interleukin 13 gene DOID:9002869 Schistosomiasis Mansoni treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:10903803|REF_RGD_ID:8549615 8895145 Il13 interleukin 13 gene DOID:9003157 Respiratory Sounds ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Bronchiolitis; protein:increased expression:serum PMID:18312531|REF_RGD_ID:4145779 8895145 Il13 interleukin 13 gene DOID:9003470 Picornaviridae Infections ISO RGD:69009 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;mRNA,protein:increased expression:lung PMID:19748999|REF_RGD_ID:4145626 8895145 Il13 interleukin 13 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:69008 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal mucosa PMID:8520776|REF_RGD_ID:4782826 8895145 Il13 interleukin 13 gene DOID:9004009 Reperfusion Injury ISO RGD:68949 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:18354382|REF_RGD_ID:2301685 8895145 Il13 interleukin 13 gene DOID:9004009 Reperfusion Injury ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:18354382|REF_RGD_ID:2301685 8895145 Il13 interleukin 13 gene DOID:9004283 Transplant Rejection ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17532783|REF_RGD_ID:10402939 8895145 Il13 interleukin 13 gene DOID:9004283 Transplant Rejection treatment ISO RGD:68949 D RGD:9068941 20200609 RGD PMID:17331844|REF_RGD_ID:8549647 8895145 Il13 interleukin 13 gene DOID:9004283 Transplant Rejection treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:17902182|REF_RGD_ID:8549629 8895145 Il13 interleukin 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8895145 Il13 interleukin 13 gene DOID:9004484 Sepsis ISO RGD:68949 D RGD:9068941 20200609 RGD protein:decreased expression:ileum PMID:21159497|REF_RGD_ID:8549643 8895145 Il13 interleukin 13 gene DOID:9004484 Sepsis ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:10679115|REF_RGD_ID:4145654 8895145 Il13 interleukin 13 gene DOID:9004610 Acute Lung Injury ISO RGD:68949 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15461830|REF_RGD_ID:4145512 8895145 Il13 interleukin 13 gene DOID:9005372 Inflammation ISO RGD:69008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 8895145 Il13 interleukin 13 gene DOID:9005724 Fungal Lung Diseases ISO RGD:68949 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16544260|REF_RGD_ID:4145506 8895145 Il13 interleukin 13 gene DOID:9005724 Fungal Lung Diseases ISO RGD:69009 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19752036|REF_RGD_ID:4145474 8895145 Il13 interleukin 13 gene DOID:9005930 Endotoxemia treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:10674721|REF_RGD_ID:8549626 8895145 Il13 interleukin 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8895145 Il13 interleukin 13 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69008 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8895145 Il13 interleukin 13 gene DOID:9007356 Eczema ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP:CDS:p.R130Q (rs20541) (human) PMID:23815671|REF_RGD_ID:8549530 8895145 Il13 interleukin 13 gene DOID:9007356 Eczema no_association ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:18410415|REF_RGD_ID:8549512 8895145 Il13 interleukin 13 gene DOID:9007417 Pseudomonas Infections ISO RGD:69008 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:16387607|REF_RGD_ID:4145500 8895145 Il13 interleukin 13 gene DOID:9007651 Chronic Bronchitis ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:Respiratory Mucosa PMID:14582911|REF_RGD_ID:4759835 8895145 Il13 interleukin 13 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human PMID:21349879|REF_RGD_ID:8549517 8895145 Il13 interleukin 13 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:rs1800925, rs20541, rs848 (human) PMID:19554022|REF_RGD_ID:8549552 8895145 Il13 interleukin 13 gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; DNA:SNPs: :rs20541, rs180925 (human) PMID:20811626|REF_RGD_ID:5131286 8895145 Il13 interleukin 13 gene DOID:9008680 Respiratory Tract Infections ISO RGD:69008 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome PMID:14633438|REF_RGD_ID:4145665 8895145 Il13 interleukin 13 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:69008 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, exon:-1512A>C, -1055C>T, 2044G>A (human) PMID:18989750|REF_RGD_ID:8549503 8895145 Il13 interleukin 13 gene DOID:9008939 Breast Neoplasms treatment ISO RGD:69008 D RGD:9068941 20200609 RGD PMID:17438063|REF_RGD_ID:8549557 8895145 Il13 interleukin 13 gene DOID:9074 systemic lupus erythematosus ISO RGD:69008 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12051401|REF_RGD_ID:8549582 8895145 Il13 interleukin 13 gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:12739821|PMID:18924210|REF_RGD_ID:8549536|REF_RGD_ID:8549561 8895145 Il13 interleukin 13 gene DOID:9498 pulmonary eosinophilia ISO RGD:69009 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:12574374|REF_RGD_ID:8549597 8895145 Il13 interleukin 13 gene DOID:9675 pulmonary emphysema ISO RGD:69009 D RGD:9068941 20200609 RGD PMID:11067861|REF_RGD_ID:4145652 8895153 Ggnbp2 gametogenetin binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8895153 Ggnbp2 gametogenetin binding protein 2 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1343556 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 8895153 Ggnbp2 gametogenetin binding protein 2 gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:1343556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 8895153 Ggnbp2 gametogenetin binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8895153 Ggnbp2 gametogenetin binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8895153 Ggnbp2 gametogenetin binding protein 2 gene DOID:630 genetic disease ISO RGD:1343556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895153 Ggnbp2 gametogenetin binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8895153 Ggnbp2 gametogenetin binding protein 2 gene DOID:9008582 Developmental Disease ISO RGD:1343556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8895184 Lrrc36 leucine rich repeat containing 36 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8895184 Lrrc36 leucine rich repeat containing 36 gene DOID:630 genetic disease ISO RGD:1605363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895212 Dcaf15 DDB1 and CUL4 associated factor 15 gene DOID:630 genetic disease ISO RGD:2306328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895246 Smc2 structural maintenance of chromosomes 2 gene DOID:1059 intellectual disability ISO RGD:1313128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8895246 Smc2 structural maintenance of chromosomes 2 gene DOID:234 colon adenocarcinoma severity ISO RGD:1313128 D RGD:9068941 20220224 RGD human cell line in a mouse model PMID:23095742|REF_RGD_ID:151356955 8895246 Smc2 structural maintenance of chromosomes 2 gene DOID:630 genetic disease ISO RGD:1313128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895246 Smc2 structural maintenance of chromosomes 2 gene DOID:9000027 Microsatellite Instability ISO RGD:1313128 D RGD:9068941 20220224 RGD assoc. w/gastric cancer;DNA:frameshift mutations:exon 6, exon 17:K188fsX5, T751fsX9 (human) PMID:24483990|REF_RGD_ID:151356954 8895246 Smc2 structural maintenance of chromosomes 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8895246 Smc2 structural maintenance of chromosomes 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1313128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8895246 Smc2 structural maintenance of chromosomes 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1313128 D RGD:9068941 20220224 RGD mRNA:decreased expression:colorectum (human) PMID:31357676|REF_RGD_ID:151356956 8895275 Lig3 DNA ligase 3 gene DOID:0070451 mitochondrial DNA depletion syndrome 20 ISO RGD:1320452 D RGD:7240710 20220330 OMIM 8895275 Lig3 DNA ligase 3 gene DOID:0070451 mitochondrial DNA depletion syndrome 20 ISO RGD:1320452 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 20 (mngie type) PMID:25741868|PMID:33855352|PMID:34165507 8895275 Lig3 DNA ligase 3 gene DOID:1793 pancreatic cancer resistance ISO RGD:1320452 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs 2074522 (human) PMID:19147782|REF_RGD_ID:2317363 8895275 Lig3 DNA ligase 3 gene DOID:630 genetic disease ISO RGD:1320452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895275 Lig3 DNA ligase 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1320452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 8895275 Lig3 DNA ligase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1309875 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17412650|REF_RGD_ID:2302580 8895275 Lig3 DNA ligase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:0050677 Bjornstad syndrome ISO RGD:1347169 D RGD:7240710 20180130 OMIM 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:0050677 Bjornstad syndrome ISO RGD:1347169 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome PMID:11528392|PMID:12215968|PMID:12547234|PMID:12910490|PMID:16199547|PMID:17314340|PMID:17403714|PMID:18386115|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20518024|PMID:20727375|PMID:21274865|PMID:22277166|PMID:22277967|PMID:23892085|PMID:24033266|PMID:24172246|PMID:24236502|PMID:24655110|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:25954003|PMID:26467025|PMID:27618451|PMID:27959697|PMID:28105683|PMID:28322498|PMID:28427446|PMID:28490743|PMID:28492532|PMID:29090881|PMID:30582773|PMID:30634555|PMID:31316545|PMID:31435670|PMID:32581362|PMID:34662929|PMID:9545407 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1347169 D RGD:7240710 20180130 OMIM 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1347169 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Decreased activity of mitochondrial complex III | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 PMID:11528392|PMID:12215968|PMID:12547234|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18386115|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:21274865|PMID:22277166|PMID:22277967|PMID:22310368|PMID:22991165|PMID:23892085|PMID:24033266|PMID:24172246|PMID:24655110|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:27959697|PMID:28128857|PMID:28322498|PMID:28427446|PMID:28492532|PMID:28496993|PMID:29090881|PMID:30582773|PMID:30634555|PMID:31316545|PMID:31435670|PMID:32313153|PMID:32581362|PMID:34662929|PMID:9545407 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:0111455 GRACILE syndrome ISO RGD:1347169 D RGD:7240710 20180130 OMIM 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:0111455 GRACILE syndrome ISO RGD:1347169 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: GRACILE syndrome PMID:11528392|PMID:12215968|PMID:12547234|PMID:12910490|PMID:16199547|PMID:17314340|PMID:17403714|PMID:18386115|PMID:18771761|PMID:19162478|PMID:19285991|PMID:19389488|PMID:19508421|PMID:20518024|PMID:21274865|PMID:22277166|PMID:22310368|PMID:23892085|PMID:24033266|PMID:24172246|PMID:24236502|PMID:24655110|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:25954003|PMID:26467025|PMID:26489029|PMID:26563427|PMID:27618451|PMID:27959697|PMID:28105683|PMID:28128857|PMID:28322498|PMID:28427446|PMID:28490743|PMID:28492532|PMID:28496993|PMID:29090881|PMID:30582773|PMID:30634555|PMID:31435670|PMID:33511646|PMID:34662929|PMID:9545407 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:1059 intellectual disability ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22277967|PMID:25741868|PMID:28492532|PMID:31316545|PMID:32581362 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:10907 microcephaly ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:22277967|PMID:25741868|PMID:28492532|PMID:31316545|PMID:32581362 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:1826 epilepsy ISO RGD:1347169 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:3652 Leigh disease ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12215968|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18771761|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:22277166|PMID:22991165|PMID:24033266|PMID:24172246|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:28492532|PMID:30582773|PMID:9545407 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:3652 Leigh disease ISO RGD:1347169 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:12215968|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:22277166|PMID:22991165|PMID:24033266|PMID:24172246|PMID:24704045|PMID:25326637|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:28492532|PMID:30582773|PMID:9545407 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:3652 Leigh disease ISO RGD:1347169 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12215968|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:22277166|PMID:22991165|PMID:24033266|PMID:24172246|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:28492532|PMID:30582773|PMID:9545407 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:630 genetic disease ISO RGD:1347169 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12215968|PMID:16199547|PMID:17314340|PMID:17403714|PMID:19162478|PMID:19508421|PMID:22277166|PMID:25741868|PMID:25895478|PMID:25954003|PMID:27618451|PMID:27959697|PMID:28490743|PMID:28492532|PMID:30582773|PMID:30634555|PMID:31435670|PMID:34662929 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1347169 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:12215968|PMID:12910490|PMID:17314340|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20518024|PMID:22277166|PMID:24033266|PMID:25741868|PMID:25895478|PMID:28492532 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1347169 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 PMID:12215968|PMID:12910490|PMID:17314340|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20518024|PMID:22277166|PMID:25326637|PMID:25741868|PMID:25895478|PMID:28492532 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1347169 D RGD:9068941 20200609 RGD DNA:mutations: ; mitochondrial complex III deficiency, OMIM:124000 PMID:11528392|REF_RGD_ID:1600515 8895308 LOC102007967 mitochondrial chaperone BCS1 gene DOID:936 brain disease ISO RGD:1347169 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8895337 Vps50 VPS50 subunit of EARP/GARPII complex gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8895337 Vps50 VPS50 subunit of EARP/GARPII complex gene DOID:630 genetic disease ISO RGD:1604352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895337 Vps50 VPS50 subunit of EARP/GARPII complex gene DOID:9000387 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS ISO RGD:1604352 D RGD:7240710 20220323 OMIM 8895337 Vps50 VPS50 subunit of EARP/GARPII complex gene DOID:9000387 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS ISO RGD:1604352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis PMID:34037727 8895370 Crip1 cysteine rich protein 1 gene DOID:630 genetic disease ISO RGD:1348993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:0060041 autism spectrum disorder ISO RGD:1352372 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:20967760|REF_RGD_ID:5509622 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1352372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance PMID:17959182|PMID:21558275|PMID:30643255 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:10652 Alzheimer's disease ISO RGD:1352372 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15111312|REF_RGD_ID:5509620 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:10652 Alzheimer's disease ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:20570249|REF_RGD_ID:5509595 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:10763 hypertension ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22467300 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:1936 atherosclerosis ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16303615 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:1936 atherosclerosis ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:18206890|REF_RGD_ID:5509610 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:2316 brain ischemia ISO RGD:70493 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:20167207|REF_RGD_ID:5509598 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:2841 asthma ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:18692885|REF_RGD_ID:5509784 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:2841 asthma ISO RGD:733626 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19628725|REF_RGD_ID:5509605 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:2921 glomerulonephritis ISO RGD:70493 D RGD:9068941 20200609 RGD PMID:7967345|REF_RGD_ID:5128564 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:6000 congestive heart failure ISO RGD:70493 D RGD:9068941 20200609 RGD associated with Myocardial Infarction; mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:6000 congestive heart failure ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19546247|REF_RGD_ID:5509627 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:6000 congestive heart failure treatment ISO RGD:70493 D RGD:9068941 20231109 RGD PMID:34958945|REF_RGD_ID:401900155 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:630 genetic disease ISO RGD:1352372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:8283 peritonitis ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:18941242|REF_RGD_ID:5509607 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406566 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9001472 Nasal Polyps ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30643255 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9001472 Nasal Polyps ISO RGD:1352372 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:20554417|REF_RGD_ID:5509597 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9001600 Wounds and Injuries ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:15708862|REF_RGD_ID:5509615 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9002457 Experimental Arthritis ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19675173|REF_RGD_ID:5509599 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:15328042|REF_RGD_ID:5509618 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:18635843|REF_RGD_ID:5509608 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9004610 Acute Lung Injury ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19752233|REF_RGD_ID:5509626 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19787041|REF_RGD_ID:5509625 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:733626 D RGD:9068941 20200609 RGD associated with Wounds and Injuries PMID:17384141|REF_RGD_ID:5509613 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9007692 Insulin Resistance ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:19787041|REF_RGD_ID:5509625 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9743 diabetic neuropathy ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:20724598|REF_RGD_ID:5509623 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9744 type 1 diabetes mellitus ISO RGD:733626 D RGD:9068941 20200609 RGD PMID:17940120|REF_RGD_ID:5509611 8895379 Alox15 arachidonate 15-lipoxygenase gene DOID:9775 diastolic heart failure ISO RGD:1352372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8895406 Znf319 zinc finger protein 319 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8895406 Znf319 zinc finger protein 319 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8895406 Znf319 zinc finger protein 319 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8895406 Znf319 zinc finger protein 319 gene DOID:630 genetic disease ISO RGD:1314677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895412 Bend7 BEN domain containing 7 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1314203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8895412 Bend7 BEN domain containing 7 gene DOID:630 genetic disease ISO RGD:1314203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895440 Galnt7 polypeptide N-acetylgalactosaminyltransferase 7 gene DOID:630 genetic disease ISO RGD:1347952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895440 Galnt7 polypeptide N-acetylgalactosaminyltransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8895455 Med11 mediator complex subunit 11 gene DOID:630 genetic disease ISO RGD:1606637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895455 Med11 mediator complex subunit 11 gene DOID:9009077 NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES ISO RGD:1606637 D RGD:7240710 20230621 OMIM 8895455 Med11 mediator complex subunit 11 gene DOID:9009077 NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES ISO RGD:1606637 D RGD:8554872 20230627 ClinVar ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities PMID:36001086 8895466 Spa17 sperm autoantigenic protein 17 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8895466 Spa17 sperm autoantigenic protein 17 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8895466 Spa17 sperm autoantigenic protein 17 gene DOID:3965 Merkel cell carcinoma ISO RGD:1353517 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nucleus PMID:31218705|REF_RGD_ID:27226803 8895466 Spa17 sperm autoantigenic protein 17 gene DOID:5419 schizophrenia ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8895466 Spa17 sperm autoantigenic protein 17 gene DOID:630 genetic disease ISO RGD:1353517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895466 Spa17 sperm autoantigenic protein 17 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353517 D RGD:9068941 20200609 RGD associated with ovarian carcinoma;proetin:increased expression:epithelium: PMID:19744347|REF_RGD_ID:27226802 8895466 Spa17 sperm autoantigenic protein 17 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8895466 Spa17 sperm autoantigenic protein 17 gene DOID:9007661 Dwarfism ISO RGD:1353517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8895475 Dlst dihydrolipoamide S-succinyltransferase gene DOID:0081326 oxoglutarate dehydrogenase deficiency ISO RGD:1351694 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: 2 alpha ketoglutarate dehydrogenase deficiency 8895475 Dlst dihydrolipoamide S-succinyltransferase gene DOID:1059 intellectual disability ISO RGD:1351694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8895475 Dlst dihydrolipoamide S-succinyltransferase gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1351694 D RGD:9068941 20200806 RGD DNA:polymorphisms: : PMID:10227647|REF_RGD_ID:1358587 8895475 Dlst dihydrolipoamide S-succinyltransferase gene DOID:630 genetic disease ISO RGD:1351694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895475 Dlst dihydrolipoamide S-succinyltransferase gene DOID:9008213 Paragangliomas 7 ISO RGD:1351694 D RGD:7240710 20190710 OMIM 8895475 Dlst dihydrolipoamide S-succinyltransferase gene DOID:9008213 Paragangliomas 7 ISO RGD:1351694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paragangliomas 7 PMID:25741868|PMID:30929736 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:0080716 infantile liver failure syndrome ISO RGD:1604810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome PMID:24033266|PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28492532|PMID:31761904 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:0080778 transient infantile liver failure ISO RGD:1604810 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:16199547|PMID:24033266|PMID:25741868|PMID:26073778|PMID:26286438|PMID:26541327|PMID:26578240|PMID:27789416|PMID:28031453|PMID:28252636|PMID:28410752|PMID:28492532|PMID:28576691|PMID:30825388|PMID:31216810|PMID:31761904|PMID:31964843|PMID:32812336|PMID:33042920 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:13938 amenorrhea ISO RGD:1604810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:5419 schizophrenia ISO RGD:1604810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:630 genetic disease ISO RGD:1604810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:9000217 Stomach Neoplasms ISO RGD:1604810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:9000918 Disease Progression ISO RGD:1604810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:9002596 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly ISO RGD:1604810 D RGD:7240710 20180130 OMIM 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:9002596 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly ISO RGD:1604810 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: NBAS-related condition | ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly PMID:16199547|PMID:17576681|PMID:20577004|PMID:24033266|PMID:24884844|PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28115293|PMID:28425089|PMID:28492532|PMID:30542205|PMID:30825388|PMID:31761904|PMID:32768688|PMID:32805445|PMID:32812336|PMID:33042920|PMID:33707149|PMID:34288298|PMID:34386911|PMID:9536098 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1604810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604810 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26073778|PMID:28031453|PMID:28492532|PMID:34386911 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:9004590 Acute Liver Failure ISO RGD:1604810 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:26541327|REF_RGD_ID:25671408 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:9007272 Infantile Liver Failure Syndrome 2 ISO RGD:1604810 D RGD:7240710 20180130 OMIM 8895493 Nbas NBAS subunit of NRZ tethering complex gene DOID:9007272 Infantile Liver Failure Syndrome 2 ISO RGD:1604810 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Fever-associated acute infantile liver failure syndrome | ClinVar Annotator: match by term: Infantile liver failure syndrome 2 PMID:16199547|PMID:24033266|PMID:25741868|PMID:26073778|PMID:26286438|PMID:26541327|PMID:26578240|PMID:27789416|PMID:28031453|PMID:28252636|PMID:28410752|PMID:28492532|PMID:28576691|PMID:30558828|PMID:30825388|PMID:31761904|PMID:31964843|PMID:32313153|PMID:32768688|PMID:32805445|PMID:32812336|PMID:33042920|PMID:34298581|PMID:34386911 8895551 Cep250 centrosomal protein 250 gene DOID:0050439 Usher syndrome ISO RGD:1347521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24780881|PMID:25741868 8895551 Cep250 centrosomal protein 250 gene DOID:10584 retinitis pigmentosa ISO RGD:1618420 D RGD:9068941 20220825 MouseDO 8895551 Cep250 centrosomal protein 250 gene DOID:630 genetic disease ISO RGD:1347521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8895551 Cep250 centrosomal protein 250 gene DOID:8501 fundus dystrophy ISO RGD:1347521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28005958|PMID:28492532 8895551 Cep250 centrosomal protein 250 gene DOID:9008509 Cone-Rod Dystrophy and Hearing Loss 2 ISO RGD:1347521 D RGD:7240710 20190424 OMIM 8895551 Cep250 centrosomal protein 250 gene DOID:9008509 Cone-Rod Dystrophy and Hearing Loss 2 ISO RGD:1347521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEP250-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 PMID:24780881|PMID:25741868|PMID:28492532|PMID:29718797|PMID:30459346|PMID:30998843 8895592 Znf445 zinc finger protein 445 gene DOID:630 genetic disease ISO RGD:1349162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895620 Nle1 notchless homolog 1 gene DOID:630 genetic disease ISO RGD:1604007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895620 Nle1 notchless homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8895643 B4galnt4 beta-1,4-N-acetyl-galactosaminyltransferase 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8895643 B4galnt4 beta-1,4-N-acetyl-galactosaminyltransferase 4 gene DOID:0111969 immunodeficiency 39 ISO RGD:1602277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8895643 B4galnt4 beta-1,4-N-acetyl-galactosaminyltransferase 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8895643 B4galnt4 beta-1,4-N-acetyl-galactosaminyltransferase 4 gene DOID:630 genetic disease ISO RGD:1602277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895668 Adgrf4 adhesion G protein-coupled receptor F4 gene DOID:5419 schizophrenia ISO RGD:1315496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8895668 Adgrf4 adhesion G protein-coupled receptor F4 gene DOID:630 genetic disease ISO RGD:1315496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895682 Zc3h12d zinc finger CCCH-type containing 12D gene DOID:630 genetic disease ISO RGD:1345806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895682 Zc3h12d zinc finger CCCH-type containing 12D gene DOID:684 hepatocellular carcinoma ISO RGD:1345806 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34545456 8895701 Irf7 interferon regulatory factor 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8895701 Irf7 interferon regulatory factor 7 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1317251 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8895701 Irf7 interferon regulatory factor 7 gene DOID:0080600 COVID-19 ISO RGD:1317251 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8895701 Irf7 interferon regulatory factor 7 gene DOID:0080773 delta beta-thalassemia ISO RGD:1317251 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8895701 Irf7 interferon regulatory factor 7 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317251 D RGD:7240710 20180130 OMIM 8895701 Irf7 interferon regulatory factor 7 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317251 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:16199547|PMID:17576681|PMID:25741868|PMID:25814066|PMID:28492532|PMID:31172279|PMID:32972995|PMID:9536098 8895701 Irf7 interferon regulatory factor 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8895701 Irf7 interferon regulatory factor 7 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 8895701 Irf7 interferon regulatory factor 7 gene DOID:12155 lymphocytic choriomeningitis disease_progression ISO RGD:1317252 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 8895701 Irf7 interferon regulatory factor 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8895701 Irf7 interferon regulatory factor 7 gene DOID:630 genetic disease ISO RGD:1317251 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32972995 8895701 Irf7 interferon regulatory factor 7 gene DOID:9001488 Human Influenza ISO RGD:1317251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8895701 Irf7 interferon regulatory factor 7 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1317251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8895701 Irf7 interferon regulatory factor 7 gene DOID:9005372 Inflammation ISO RGD:1317251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20513754 8895730 Nfx1 nuclear transcription factor, X-box binding 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8895730 Nfx1 nuclear transcription factor, X-box binding 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321083 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8895730 Nfx1 nuclear transcription factor, X-box binding 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8895730 Nfx1 nuclear transcription factor, X-box binding 1 gene DOID:630 genetic disease ISO RGD:1321083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895730 Nfx1 nuclear transcription factor, X-box binding 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321083 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8895730 Nfx1 nuclear transcription factor, X-box binding 1 gene DOID:9870 galactosemia ISO RGD:1321083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8895758 HCRT hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISO RGD:731040 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus or protein:decreased expression:brain; in all samples examined PMID:10973318|REF_RGD_ID:1600919 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:0050742 nicotine dependence ISO RGD:731040 D RGD:9068941 20240201 RGD mRNA:increased expression:blood (human) PMID:22846875|REF_RGD_ID:401960066 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:0050848 obstructive sleep apnea ISO RGD:731040 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:independent of level of somnolence or obesity PMID:15627867|REF_RGD_ID:1600936 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:0060001 withdrawal disorder ISO RGD:731040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20738730 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:0060001 withdrawal disorder severity ISO RGD:731040 D RGD:9068941 20240201 RGD associated with alcohol dependence;mRNA:decreased expression:blood plasma (human) PMID:21621370|REF_RGD_ID:401960070 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:11983 Prader-Willi syndrome ISO RGD:731040 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:15613151|REF_RGD_ID:1600935 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:12842 Guillain-Barre syndrome ISO RGD:731040 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:15623725|REF_RGD_ID:1600925 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:1289 neurodegenerative disease ISO RGD:731040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23246865 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:1849 cannabis dependence ISO RGD:731040 D RGD:9068941 20240201 RGD mRNA:increased expression:blood (human) PMID:22846875|REF_RGD_ID:401960066 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:4195 hyperglycemia treatment ISO RGD:2786 D RGD:9068941 20200609 RGD associated with Obesity PMID:12217430|REF_RGD_ID:1358430 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:630 genetic disease ISO RGD:731040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:809 cocaine abuse treatment ISO RGD:731041 D RGD:9068941 20240201 RGD PMID:29454841|REF_RGD_ID:401960065 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISO RGD:731040 D RGD:9068941 20200609 RGD DNA:polymorphism:5' UTR:3250C/T, all patients found heterozygous for the 3250T allele PMID:11148249|REF_RGD_ID:1600922 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:8986 narcolepsy ISO RGD:731041 D RGD:9068941 20220825 MouseDO OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:8986 narcolepsy no_association ISO RGD:731040 D RGD:9068941 20200609 RGD DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele) PMID:11723284|REF_RGD_ID:1600923 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9000641 Pain ISO RGD:731040 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16202530 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9002395 Hypothermia ISO RGD:731040 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26799708 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9002801 Recurrence ISO RGD:731040 D RGD:9068941 20240201 RGD associated with nicotine dependence;protein:decreased expression :blood plasma (human) PMID:30117237|REF_RGD_ID:401960073 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9002916 Hyperphagia ISO RGD:2786 D RGD:9068941 20200609 RGD PMID:12535169|REF_RGD_ID:1358429 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9002916 Hyperphagia ISO RGD:731040 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9002925 Narcolepsy 1 ISO RGD:731040 D RGD:7240710 20180130 OMIM 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9002925 Narcolepsy 1 ISO RGD:731040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Narcolepsy 1 PMID:10973318 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9004657 Weight Gain ISO RGD:731040 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16357203 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:2786 D RGD:9068941 20200609 RGD mRNA:increased expression:perifornical nucleus PMID:12560202|REF_RGD_ID:1358428 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:9068941 20200609 RGD protein:decreased expression:plasma:orexin A NOT orexin B polypeptide, expression inversely related to degree of obesity PMID:16135994|REF_RGD_ID:1600933 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:9068941 20200609 RGD protein:increased expression:plasma:fasting patients, no change after weight loss due to gastric banding PMID:15970339|REF_RGD_ID:1600932 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731040 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9970 obesity ISO RGD:731041 D RGD:9068941 20200609 RGD mRNA:increased expression:perifornical nucleus PMID:12560202|REF_RGD_ID:1358428 8895758 Hcrt hypocretin neuropeptide precursor gene DOID:9976 heroin dependence treatment ISO RGD:731040 D RGD:9068941 20240201 RGD PMID:35984180|REF_RGD_ID:401960075 8895764 LOC102016025 chromosome unknown open reading frame, human C5orf58 gene DOID:0111951 immunodeficiency 40 ISO RGD:3403707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 8895764 LOC102016025 chromosome unknown open reading frame, human C5orf58 gene DOID:630 genetic disease ISO RGD:3403707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895764 LOC102016025 chromosome unknown open reading frame, human C5orf58 gene DOID:9008093 Immunodeficiency 81 ISO RGD:3403707 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Immunodeficiency 81 PMID:25741868 8895770 Ppm1f protein phosphatase, Mg2+/Mn2+ dependent 1F gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:737169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 8895770 Ppm1f protein phosphatase, Mg2+/Mn2+ dependent 1F gene DOID:11198 DiGeorge syndrome ISO RGD:737169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8895770 Ppm1f protein phosphatase, Mg2+/Mn2+ dependent 1F gene DOID:630 genetic disease ISO RGD:737169 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:0060673 Peters anomaly ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:21931569|PMID:26893459|PMID:28492532 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1616422 D RGD:9068941 20220825 MouseDO OMIM:158170 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:0080205 CAKUT ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:21931569|PMID:26893459|PMID:28492532 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:0090001 Fraser syndrome ISO RGD:1616422 D RGD:9068941 20220825 MouseDO OMIM:219000 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1616422 D RGD:9068941 20200609 RGD DNA:deletion, frame shift:cds, splice junction: PMID:23221805|REF_RGD_ID:11554181 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:0111717 isolated cryptophthalmia ISO RGD:1616422 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse) PMID:23536828|REF_RGD_ID:11554185 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:10907 microcephaly ISO RGD:1345384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Iridogoniodysgenesis with somatic anomalies PMID:21931569|PMID:26893459|PMID:28492532 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:14766 renal agenesis ISO RGD:1345384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:2340 craniosynostosis ISO RGD:1345384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1345384 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:23806086|PMID:24088041|PMID:25736269|PMID:25741868|PMID:28492532 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:630 genetic disease ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11332973|PMID:21507892|PMID:25741868|PMID:28492532 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:784 chronic kidney disease ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:9000566 Bifid Nose with or without Anorectal and Renal Anomalies ISO RGD:1345384 D RGD:7240710 20180130 OMIM 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:9000566 Bifid Nose with or without Anorectal and Renal Anomalies ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bifid nose with or without anorectal and renal anomalies PMID:11332973|PMID:11822703|PMID:17576681|PMID:19732862|PMID:21507892|PMID:25741868|PMID:28492532|PMID:32926405|PMID:9536098 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:9003259 Marles Greenberg Persaud Syndrome ISO RGD:1345384 D RGD:7240710 20180130 OMIM 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:9003259 Marles Greenberg Persaud Syndrome ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Manitoba Trichoanal syndrome | ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome | ClinVar Annotator: match by term: Marles syndrome PMID:11332973|PMID:17352387|PMID:17576681|PMID:21507892|PMID:21931569|PMID:23112756|PMID:23333812|PMID:23806086|PMID:24088041|PMID:24115501|PMID:25736269|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9536098 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:9003807 Bifid Nose ISO RGD:1345384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:9005762 Trigonocephaly 2 ISO RGD:1345384 D RGD:7240710 20180130 OMIM 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:9005762 Trigonocephaly 2 ISO RGD:1345384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trigonocephaly 2 PMID:11332973|PMID:17576681|PMID:21507892|PMID:21931569|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9536098 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:9007261 Nonsyndromic Trigonocephaly ISO RGD:1345384 D RGD:9068941 20200609 RGD DNA:deletion, duplication,missense mutation:cds: PMID:21931569|REF_RGD_ID:11554186 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:9007261 Nonsyndromic Trigonocephaly ISO RGD:1616422 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:21931569|REF_RGD_ID:11554186 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1345384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23221805 8895781 Frem1 FRAS1 related extracellular matrix 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1616422 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse) PMID:23536828|REF_RGD_ID:11554185 8895828 Mrpl58 mitochondrial ribosomal protein L58 gene DOID:630 genetic disease ISO RGD:1317429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895838 Lman2l lectin, mannose binding 2 like gene DOID:0081215 autosomal recessive intellectual developmental disorder 52 ISO RGD:1322831 D RGD:7240710 20190315 OMIM 8895838 Lman2l lectin, mannose binding 2 like gene DOID:0081215 autosomal recessive intellectual developmental disorder 52 ISO RGD:1322831 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 52 PMID:25741868|PMID:26566883 8895838 Lman2l lectin, mannose binding 2 like gene DOID:1059 intellectual disability ISO RGD:1322831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8895838 Lman2l lectin, mannose binding 2 like gene DOID:3312 bipolar disorder ISO RGD:1322831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8895838 Lman2l lectin, mannose binding 2 like gene DOID:4450 renal cell carcinoma ISO RGD:1322831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8895838 Lman2l lectin, mannose binding 2 like gene DOID:5419 schizophrenia ISO RGD:1322831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8895838 Lman2l lectin, mannose binding 2 like gene DOID:630 genetic disease ISO RGD:1322831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895838 Lman2l lectin, mannose binding 2 like gene DOID:9003904 Autosomal Dominant Intellectual Developmental Disorder 69 ISO RGD:1322831 D RGD:7240710 20220720 OMIM 8895838 Lman2l lectin, mannose binding 2 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322831 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8895854 Henmt1 HEN methyltransferase 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1602307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8895854 Henmt1 HEN methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1602307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8895854 Henmt1 HEN methyltransferase 1 gene DOID:14227 azoospermia ISO RGD:1602307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8895854 Henmt1 HEN methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1602307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:0050700 cardiomyopathy ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18342293 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:0111955 immunodeficiency 27A ISO RGD:1315043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:10976 membranous glomerulonephritis ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased activity,protein:renal glomerulus: PMID:18178252|REF_RGD_ID:10412641 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:11832 visual epilepsy ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:12786973|REF_RGD_ID:2298728 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:12858 Huntington's disease ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:increased expression:cortex,striatum,nucleus: PMID:19646509|REF_RGD_ID:10412311 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:12858 Huntington's disease onset ISO RGD:1315043 D RGD:9068941 20200609 RGD DNa:SNO:promoter:rs5880308(human) PMID:18327563|REF_RGD_ID:10412314 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:12858 Huntington's disease treatment ISO RGD:1315044 D RGD:9068941 20200609 RGD PMID:19646509|REF_RGD_ID:10412311 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:14330 Parkinson's disease ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21815648 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:1561 cognitive disorder ISO RGD:1315044 D RGD:9068941 20200609 RGD associated with Chronic Cerebral Hypoperfusion; PMID:24371084|REF_RGD_ID:10412307 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:1909 melanoma ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197930 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:224 transient cerebral ischemia ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased nitrosylation, activity:hippocampus: PMID:23137546|REF_RGD_ID:10412334 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:motor neuron: PMID:15910777|REF_RGD_ID:10412312 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:3526 cerebral infarction treatment ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:23968852|REF_RGD_ID:10412642 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:5844 myocardial infarction treatment ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:22635076|REF_RGD_ID:10412335 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:6000 congestive heart failure ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:increased activity:heart: PMID:17562954|REF_RGD_ID:10412331 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:630 genetic disease ISO RGD:1315043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1315043 D RGD:9068941 20200609 RGD protein:increased expression:intestine: PMID:20716917|REF_RGD_ID:10412640 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased expression:white matter and grey matter: PMID:10331432|REF_RGD_ID:10412645 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1306565 D RGD:9068941 20200709 RGD PMID:30226536|REF_RGD_ID:35316073 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:lung: PMID:24126891|REF_RGD_ID:10412643 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9002056 Arterial Injury ISO RGD:1315044 D RGD:9068941 20200609 RGD PMID:14638553|REF_RGD_ID:10412321 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9002457 Experimental Arthritis ISO RGD:1315043 D RGD:9068941 20200609 RGD PMID:16331767|REF_RGD_ID:10412332 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9002514 Neointima treatment ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:14638553|REF_RGD_ID:10412321 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:21843499|REF_RGD_ID:9587791 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18342293 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1315043 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9006182 Carotid Artery Injuries ISO RGD:1306565 D RGD:9068941 20200609 RGD protein:increased activity:carotid artery: PMID:14638553|REF_RGD_ID:10412321 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1306565 D RGD:9068941 20200609 RGD PMID:23952292|REF_RGD_ID:10412647 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007174 Ventricular Remodeling ISO RGD:1315044 D RGD:9068941 20200609 RGD PMID:14665690|REF_RGD_ID:10412322 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18700144 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1306565 D RGD:9068941 20220923 RGD PMID:31583047|REF_RGD_ID:155230831 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:1315044 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:brain: PMID:24371084|REF_RGD_ID:10412307 8895901 Map3k5 mitogen-activated protein kinase kinase kinase 5 gene DOID:9351 diabetes mellitus ISO RGD:1315043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16731828 8895939 Slc9a4 solute carrier family 9 member A4 gene DOID:0080685 aortic dissection ISO RGD:1606087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 8895939 Slc9a4 solute carrier family 9 member A4 gene DOID:630 genetic disease ISO RGD:1606087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895939 Slc9a4 solute carrier family 9 member A4 gene DOID:9002802 Acidoses ISO RGD:1606087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484819 8895955 Tlcd1 TLC domain containing 1 gene DOID:630 genetic disease ISO RGD:1602658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8895963 Capn14 calpain 14 gene DOID:13922 eosinophilic esophagitis ISO RGD:1352333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25017104 8895963 Capn14 calpain 14 gene DOID:13922 eosinophilic esophagitis ISO RGD:1352333 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:25407941|REF_RGD_ID:11100048 8895963 Capn14 calpain 14 gene DOID:13922 eosinophilic esophagitis ISO RGD:1352333 D RGD:9068941 20200609 RGD mRNA:increased expression:esophagus PMID:25017104|REF_RGD_ID:11100049 8895963 Capn14 calpain 14 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1352333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 8895963 Capn14 calpain 14 gene DOID:630 genetic disease ISO RGD:1352333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896000 Lman2 lectin, mannose binding 2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8896000 Lman2 lectin, mannose binding 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1319046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8896000 Lman2 lectin, mannose binding 2 gene DOID:14748 Sotos syndrome ISO RGD:1319046 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8896000 Lman2 lectin, mannose binding 2 gene DOID:630 genetic disease ISO RGD:1319046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896000 Lman2 lectin, mannose binding 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1319046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8896000 Lman2 lectin, mannose binding 2 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1319046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8896012 Nabp1 nucleic acid binding protein 1 gene DOID:2377 multiple sclerosis ISO RGD:1603967 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8896012 Nabp1 nucleic acid binding protein 1 gene DOID:630 genetic disease ISO RGD:1603967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896012 Nabp1 nucleic acid binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8896025 Fntb farnesyltransferase, CAAX box, beta gene DOID:2030 anxiety disorder ISO RGD:736901 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8896025 Fntb farnesyltransferase, CAAX box, beta gene DOID:630 genetic disease ISO RGD:736901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896025 Fntb farnesyltransferase, CAAX box, beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736901 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 8896051 Etnk1 ethanolamine kinase 1 gene DOID:3307 teratoma ISO RGD:1317846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8896051 Etnk1 ethanolamine kinase 1 gene DOID:630 genetic disease ISO RGD:1317846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896051 Etnk1 ethanolamine kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8896071 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1354253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21308764 8896071 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1354253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 8896071 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1354253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868 8896071 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:10907 microcephaly ISO RGD:1354253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8896071 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1354253 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autism 8896071 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:1712 aortic valve stenosis ISO RGD:1354253 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ventricle endocardium (human) PMID:18805276|REF_RGD_ID:9586018 8896071 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:2377 multiple sclerosis ISO RGD:1354253 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8896071 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:630 genetic disease ISO RGD:1354253 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8896071 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:9004098 DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES ISO RGD:1354253 D RGD:7240710 20230222 OMIM 8896071 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:9004098 DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES ISO RGD:1354253 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual disability and dysmorphic facies | ClinVar Annotator: match by term: JARID2-related Neurodevelopmental syndrome | ClinVar Annotator: match by term: JARID2-related condition PMID:25741868|PMID:33077894|PMID:35887345 8896071 Jarid2 jumonji and AT-rich interaction domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354253 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33077894|PMID:35887345 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1313822 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1313822 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1313822 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313822 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0081097 Rafiq syndrome ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1313822 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:1826 epilepsy ISO RGD:1313822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:3652 Leigh disease ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:630 genetic disease ISO RGD:1313822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896106 Fbxw5 F-box and WD repeat domain containing 5 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1313822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8896121 B4galnt3 beta-1,4-N-acetyl-galactosaminyltransferase 3 gene DOID:0080600 COVID-19 ISO RGD:1603523 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8896121 B4galnt3 beta-1,4-N-acetyl-galactosaminyltransferase 3 gene DOID:630 genetic disease ISO RGD:1603523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896121 B4galnt3 beta-1,4-N-acetyl-galactosaminyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8896155 Znf521 zinc finger protein 521 gene DOID:1059 intellectual disability ISO RGD:1316488 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8896155 Znf521 zinc finger protein 521 gene DOID:5419 schizophrenia ISO RGD:1316489 D RGD:9068941 20220825 MouseDO OMIM:181500 8896155 Znf521 zinc finger protein 521 gene DOID:630 genetic disease ISO RGD:1316488 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8896166 Ddx54 DEAD-box helicase 54 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1354287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8896166 Ddx54 DEAD-box helicase 54 gene DOID:0080204 renal hypoplasia ISO RGD:1354287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:31256877 8896166 Ddx54 DEAD-box helicase 54 gene DOID:1059 intellectual disability ISO RGD:1354287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31256877 8896166 Ddx54 DEAD-box helicase 54 gene DOID:11612 polycystic ovary syndrome ISO RGD:1354287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8896166 Ddx54 DEAD-box helicase 54 gene DOID:1826 epilepsy ISO RGD:1354287 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:31256877 8896166 Ddx54 DEAD-box helicase 54 gene DOID:630 genetic disease ISO RGD:1354287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896166 Ddx54 DEAD-box helicase 54 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders PMID:31256877 8896166 Ddx54 DEAD-box helicase 54 gene DOID:9007188 Liver Neoplasms ISO RGD:1354287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8896197 Ccnp cyclin P gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602462 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8896197 Ccnp cyclin P gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8896197 Ccnp cyclin P gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8896197 Ccnp cyclin P gene DOID:2340 craniosynostosis ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8896197 Ccnp cyclin P gene DOID:630 genetic disease ISO RGD:1602462 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896197 Ccnp cyclin P gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8896197 Ccnp cyclin P gene DOID:9269 maple syrup urine disease ISO RGD:1602462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8896197 Ccnp cyclin P gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8896209 Mettl21c methyltransferase 21C, AARS1 lysine gene DOID:0110878 holoprosencephaly 5 ISO RGD:1606433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8896209 Mettl21c methyltransferase 21C, AARS1 lysine gene DOID:14701 propionic acidemia ISO RGD:1606433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8896209 Mettl21c methyltransferase 21C, AARS1 lysine gene DOID:630 genetic disease ISO RGD:1606433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896209 Mettl21c methyltransferase 21C, AARS1 lysine gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1606433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8896209 Mettl21c methyltransferase 21C, AARS1 lysine gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1606433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 8896221 Abcb5 ATP binding cassette subfamily B member 5 gene DOID:1909 melanoma ISO RGD:1351002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15899824 8896221 Abcb5 ATP binding cassette subfamily B member 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8896221 Abcb5 ATP binding cassette subfamily B member 5 gene DOID:630 genetic disease ISO RGD:1351002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896221 Abcb5 ATP binding cassette subfamily B member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8896297 Pdss1 decaprenyl diphosphate synthase subunit 1 gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1354063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary PMID:25741868|PMID:28492532 8896297 Pdss1 decaprenyl diphosphate synthase subunit 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1354063 D RGD:7240710 20180130 OMIM 8896297 Pdss1 decaprenyl diphosphate synthase subunit 1 gene DOID:0070239 primary coenzyme Q10 deficiency 2 ISO RGD:1354063 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome PMID:17332895|PMID:22494076|PMID:25264263|PMID:25741868|PMID:28492532|PMID:31683770|PMID:33285023|PMID:34765390 8896297 Pdss1 decaprenyl diphosphate synthase subunit 1 gene DOID:0080600 COVID-19 ISO RGD:1354063 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8896297 Pdss1 decaprenyl diphosphate synthase subunit 1 gene DOID:5419 schizophrenia ISO RGD:1354063 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8896297 Pdss1 decaprenyl diphosphate synthase subunit 1 gene DOID:630 genetic disease ISO RGD:1354063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8896317 Efhc2 EF-hand domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8896317 Efhc2 EF-hand domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:17221867|PMID:21681106|PMID:25741868|PMID:30208311 8896317 Efhc2 EF-hand domain containing 2 gene DOID:630 genetic disease ISO RGD:1348000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896317 Efhc2 EF-hand domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8896317 Efhc2 EF-hand domain containing 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1348000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked PMID:17221867|PMID:25741868 8896317 Efhc2 EF-hand domain containing 2 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1348000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 8896317 Efhc2 EF-hand domain containing 2 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1348000 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:28492532 8896337 Mgat4c MGAT4 family member C gene DOID:630 genetic disease ISO RGD:1604033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1353279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:0111996 immunodeficiency 51 ISO RGD:1353279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:11198 DiGeorge syndrome ISO RGD:1353279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:1967 leiomyosarcoma ISO RGD:1353279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26555296 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:5419 schizophrenia ISO RGD:1353279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:630 genetic disease ISO RGD:1353279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:9001536 Pseudo-TORCH Syndrome 2 ISO RGD:1353279 D RGD:7240710 20190315 OMIM 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:9001536 Pseudo-TORCH Syndrome 2 ISO RGD:1353279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 PMID:12833411|PMID:25741868|PMID:27325888|PMID:31940699 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1353279 D RGD:9068941 20201106 RGD PMID:28036111|REF_RGD_ID:40400915 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:9004610 Acute Lung Injury ISO RGD:1353279 D RGD:9068941 20220114 CTD CTD Direct Evidence: therapeutic PMID:33930521 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:9005172 Lung Neoplasms ISO RGD:1353279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27980214 8896359 Usp18 ubiquitin specific peptidase 18 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1353279 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8896389 Skic8 SKI8 subunit of superkiller complex gene DOID:2717 Bloom syndrome ISO RGD:1601957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8896389 Skic8 SKI8 subunit of superkiller complex gene DOID:630 genetic disease ISO RGD:1601957 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896389 Skic8 SKI8 subunit of superkiller complex gene DOID:9256 colorectal cancer ISO RGD:1601957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8896415 Stx12 syntaxin 12 gene DOID:630 genetic disease ISO RGD:737034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896428 Mbip MAP3K12 binding inhibitory protein 1 gene DOID:12859 choreatic disease ISO RGD:1314857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 8896428 Mbip MAP3K12 binding inhibitory protein 1 gene DOID:630 genetic disease ISO RGD:1314857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896428 Mbip MAP3K12 binding inhibitory protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314857 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8896440 Pdia4 protein disulfide isomerase family A member 4 gene DOID:630 genetic disease ISO RGD:1605716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896454 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:732668 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8896454 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:0080855 Parkinsonism ISO RGD:621017 D RGD:9068941 20200609 RGD PMID:16529858|REF_RGD_ID:1581410 8896454 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:289 endometriosis ISO RGD:621017 D RGD:9068941 20200609 RGD mRNA:increased expression:uterus PMID:17845203|REF_RGD_ID:2303708 8896454 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8896454 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:732668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8896454 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:9000447 Systemic Autoinflammatory Disease with Vasculitis ISO RGD:732668 D RGD:7240710 20230531 OMIM 8896454 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:9000447 Systemic Autoinflammatory Disease with Vasculitis ISO RGD:732668 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Autoinflammatory disease, systemic, with vasculitis | ClinVar Annotator: match by term: LAVLI SYNDROME | ClinVar Annotator: match by term: LYN-related condition PMID:25741868|PMID:28492532|PMID:36122175|PMID:36932076 8896454 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:9003936 Cardiomegaly ISO RGD:621017 D RGD:9068941 20200609 RGD PMID:17039281|REF_RGD_ID:2303711 8896454 Lyn LYN proto-oncogene, Src family tyrosine kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:732669 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8896477 Nexn nexilin F-actin binding protein gene DOID:0050700 cardiomyopathy ISO RGD:1354261 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17576681|PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:25979592|PMID:26383259|PMID:27332903|PMID:27486136|PMID:27532257|PMID:28087566|PMID:28333919|PMID:28492532|PMID:28790153|PMID:28798025|PMID:29253866|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30403391|PMID:30847666|PMID:31028938|PMID:31514951|PMID:31983221|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776|PMID:34363016|PMID:9536098 8896477 Nexn nexilin F-actin binding protein gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1354261 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:16199547|PMID:20970104|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:30531895|PMID:31514951|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776 8896477 Nexn nexilin F-actin binding protein gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:27486136|PMID:28492532|PMID:28798025 8896477 Nexn nexilin F-actin binding protein gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1354261 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:27486136|PMID:28492532|PMID:28798025|PMID:30531895|PMID:31983221 8896477 Nexn nexilin F-actin binding protein gene DOID:0110326 hypertrophic cardiomyopathy 20 ISO RGD:1354261 D RGD:7240710 20180130 OMIM 8896477 Nexn nexilin F-actin binding protein gene DOID:0110326 hypertrophic cardiomyopathy 20 ISO RGD:1354261 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 | ClinVar Annotator: match by term: NEXN-related condition PMID:16199547|PMID:17576681|PMID:19881492|PMID:20970104|PMID:23299917|PMID:23481551|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25611685|PMID:25741868|PMID:25979592|PMID:26265630|PMID:26383259|PMID:26659360|PMID:27486136|PMID:27532257|PMID:28008423|PMID:28087566|PMID:28333919|PMID:28492532|PMID:28790153|PMID:28798025|PMID:28991257|PMID:29247119|PMID:29253866|PMID:29875424|PMID:29961767|PMID:30354306|PMID:30403391|PMID:30471092|PMID:30531895|PMID:30847666|PMID:31028938|PMID:31514951|PMID:31983221|PMID:32058062|PMID:32746448|PMID:32814711|PMID:32870709|PMID:32880476|PMID:33027564|PMID:33500567|PMID:33949776|PMID:34363016|PMID:35166435|PMID:35581137|PMID:9536098 8896477 Nexn nexilin F-actin binding protein gene DOID:0110424 dilated cardiomyopathy 1CC ISO RGD:1354261 D RGD:7240710 20180130 OMIM 8896477 Nexn nexilin F-actin binding protein gene DOID:0110424 dilated cardiomyopathy 1CC ISO RGD:1354261 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:16199547|PMID:17576681|PMID:19763152|PMID:19881492|PMID:20307669|PMID:20970104|PMID:22406018|PMID:23299917|PMID:23481551|PMID:24033266|PMID:24503780|PMID:24866383|PMID:25163546|PMID:25611685|PMID:25640679|PMID:25741868|PMID:25979592|PMID:26265630|PMID:26383259|PMID:26659360|PMID:27066507|PMID:27486136|PMID:27532257|PMID:28008423|PMID:28087566|PMID:28333919|PMID:28492532|PMID:28704380|PMID:28790153|PMID:28798025|PMID:28991257|PMID:29247119|PMID:29253866|PMID:29875424|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30403391|PMID:30471092|PMID:30531895|PMID:30847666|PMID:31028938|PMID:31514951|PMID:31983221|PMID:32058062|PMID:32746448|PMID:32814711|PMID:32870709|PMID:32880476|PMID:33027564|PMID:33500567|PMID:33949776|PMID:34363016|PMID:35166435|PMID:35581137|PMID:9536098 8896477 Nexn nexilin F-actin binding protein gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1354261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 8896477 Nexn nexilin F-actin binding protein gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:25741868|PMID:28492532 8896477 Nexn nexilin F-actin binding protein gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776 8896477 Nexn nexilin F-actin binding protein gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:28492532|PMID:29253866|PMID:29961767|PMID:30847666|PMID:31028938|PMID:34363016 8896477 Nexn nexilin F-actin binding protein gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19881492|PMID:24033266|PMID:25163546|PMID:25741868|PMID:28008423|PMID:28492532|PMID:28991257|PMID:30847666|PMID:31983221|PMID:32058062|PMID:32814711|PMID:32870709|PMID:32880476|PMID:33949776|PMID:35166435|PMID:35581137 8896477 Nexn nexilin F-actin binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1354261 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:28333919|PMID:28492532|PMID:29253866|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30847666|PMID:31028938|PMID:31333075|PMID:31568572|PMID:31983221|PMID:34363016 8896477 Nexn nexilin F-actin binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1354261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19881492|PMID:20970104|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:27532257|PMID:28333919|PMID:28492532|PMID:29253866|PMID:29961767|PMID:30012837|PMID:30354306|PMID:30847666|PMID:31028938|PMID:31333075|PMID:31568572|PMID:31983221|PMID:34363016 8896477 Nexn nexilin F-actin binding protein gene DOID:2843 long QT syndrome ISO RGD:1354261 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:33500567 8896477 Nexn nexilin F-actin binding protein gene DOID:630 genetic disease ISO RGD:1354261 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221|PMID:33500567 8896477 Nexn nexilin F-actin binding protein gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1354261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:34540771 8896477 Nexn nexilin F-actin binding protein gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1354261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:24033266|PMID:28492532 8896477 Nexn nexilin F-actin binding protein gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1354261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:19881492|PMID:24033266|PMID:24503780|PMID:25741868|PMID:25979592|PMID:28492532 8896503 Htr1d 5-hydroxytryptamine receptor 1D gene DOID:10933 obsessive-compulsive disorder ISO RGD:736440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10621951 8896503 Htr1d 5-hydroxytryptamine receptor 1D gene DOID:12849 autistic disorder ISO RGD:736440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038234 8896503 Htr1d 5-hydroxytryptamine receptor 1D gene DOID:630 genetic disease ISO RGD:736440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896503 Htr1d 5-hydroxytryptamine receptor 1D gene DOID:9006024 Hypotension ISO RGD:736440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9109356 8896503 Htr1d 5-hydroxytryptamine receptor 1D gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8896509 Mast4 microtubule associated serine/threonine kinase family member 4 gene DOID:0050562 West syndrome ISO RGD:1601915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile spasms 8896509 Mast4 microtubule associated serine/threonine kinase family member 4 gene DOID:630 genetic disease ISO RGD:1601915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896509 Mast4 microtubule associated serine/threonine kinase family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8896549 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8896549 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8896549 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8896549 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8896549 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:630 genetic disease ISO RGD:1605964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896549 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605964 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8896549 Tmbim1 transmembrane BAX inhibitor motif containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8896569 Marchf2 membrane associated ring-CH-type finger 2 gene DOID:0080490 mucolipidosis type IV ISO RGD:1351107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 8896569 Marchf2 membrane associated ring-CH-type finger 2 gene DOID:12849 autistic disorder ISO RGD:1351107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8896569 Marchf2 membrane associated ring-CH-type finger 2 gene DOID:630 genetic disease ISO RGD:1351107 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896589 Eva1c eva-1 homolog C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8896589 Eva1c eva-1 homolog C gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8896589 Eva1c eva-1 homolog C gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8896589 Eva1c eva-1 homolog C gene DOID:630 genetic disease ISO RGD:1316841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896589 Eva1c eva-1 homolog C gene DOID:9005698 ZTTK Syndrome ISO RGD:1316841 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8896606 Spire2 spire type actin nucleation factor 2 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1314110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8896606 Spire2 spire type actin nucleation factor 2 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1314110 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8896606 Spire2 spire type actin nucleation factor 2 gene DOID:13636 Fanconi anemia ISO RGD:1314110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:19367192|PMID:25741868|PMID:28492532|PMID:29098742|PMID:9721219 8896606 Spire2 spire type actin nucleation factor 2 gene DOID:630 genetic disease ISO RGD:1314110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896606 Spire2 spire type actin nucleation factor 2 gene DOID:6846 familial melanoma ISO RGD:1314110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28492532 8896661 Rnf10 ring finger protein 10 gene DOID:630 genetic disease ISO RGD:1319543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896661 Rnf10 ring finger protein 10 gene DOID:9002371 Cardiotoxicity ISO RGD:1319543 D RGD:9068941 20230706 CTD CTD Direct Evidence: therapeutic PMID:36740146 8896681 Dct dopachrome tautomerase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1342702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8896681 Dct dopachrome tautomerase gene DOID:630 genetic disease ISO RGD:1342702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896681 Dct dopachrome tautomerase gene DOID:9001386 Albinism ISO RGD:1342702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Albinism PMID:33100333 8896681 Dct dopachrome tautomerase gene DOID:9001432 Oculocutaneous Albinism Type VIII ISO RGD:1342702 D RGD:7240710 20210203 OMIM 8896681 Dct dopachrome tautomerase gene DOID:9001432 Oculocutaneous Albinism Type VIII ISO RGD:1342702 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE VIII PMID:25741868|PMID:33100333|PMID:33959807 8896681 Dct dopachrome tautomerase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1342702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8896713 Vgll2 vestigial like family member 2 gene DOID:0060163 body dysmorphic disorder ISO RGD:1323604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8896713 Vgll2 vestigial like family member 2 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1323604 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8896713 Vgll2 vestigial like family member 2 gene DOID:1059 intellectual disability ISO RGD:1323604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8896713 Vgll2 vestigial like family member 2 gene DOID:10907 microcephaly ISO RGD:1323604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8896713 Vgll2 vestigial like family member 2 gene DOID:1826 epilepsy ISO RGD:1323604 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8896713 Vgll2 vestigial like family member 2 gene DOID:1909 melanoma ISO RGD:1323604 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8896713 Vgll2 vestigial like family member 2 gene DOID:630 genetic disease ISO RGD:1323604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896713 Vgll2 vestigial like family member 2 gene DOID:9000495 Tremor ISO RGD:1323604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8896744 LOC102023521 HLA class II histocompatibility antigen, DM beta chain gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1349438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8896744 LOC102023521 HLA class II histocompatibility antigen, DM beta chain gene DOID:13241 Behcet's disease no_association ISO RGD:1349438 D RGD:9068941 20200609 RGD PMID:10375868|REF_RGD_ID:1582700 8896744 LOC102023521 HLA class II histocompatibility antigen, DM beta chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735096 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8896744 LOC102023521 HLA class II histocompatibility antigen, DM beta chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349438 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8896767 Tchhl1 trichohyalin like 1 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1605587 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868 8896767 Tchhl1 trichohyalin like 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8896767 Tchhl1 trichohyalin like 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8896767 Tchhl1 trichohyalin like 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8896767 Tchhl1 trichohyalin like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8896767 Tchhl1 trichohyalin like 1 gene DOID:5812 MHC class II deficiency ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8896767 Tchhl1 trichohyalin like 1 gene DOID:630 genetic disease ISO RGD:1605587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896767 Tchhl1 trichohyalin like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8896777 CUNH16orf90 chromosome unknown C16orf90 homolog gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:2303333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8896777 CUNH16orf90 chromosome unknown C16orf90 homolog gene DOID:1826 epilepsy ISO RGD:2303333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8896777 CUNH16orf90 chromosome unknown C16orf90 homolog gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2303333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8896777 CUNH16orf90 chromosome unknown C16orf90 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:2303333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8896792 Reep3 receptor accessory protein 3 gene DOID:0060224 atrial fibrillation ISO RGD:1603350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8896792 Reep3 receptor accessory protein 3 gene DOID:12849 autistic disorder ISO RGD:1603350 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290275 8896792 Reep3 receptor accessory protein 3 gene DOID:630 genetic disease ISO RGD:1603350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896804 Srsf6 serine and arginine rich splicing factor 6 gene DOID:0070168 spermatogenic failure 3 susceptibility ISO RGD:1342668 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS2+305T>C (rs6103330) (human) PMID:24661730|REF_RGD_ID:11039404 8896804 Srsf6 serine and arginine rich splicing factor 6 gene DOID:12858 Huntington's disease ISO RGD:1342668 D RGD:9068941 20200609 RGD protein:increased expression:striatum (human) PMID:25038828|REF_RGD_ID:11039484 8896804 Srsf6 serine and arginine rich splicing factor 6 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1342668 D RGD:9068941 20200609 RGD DNA:snp:exon:p.P281P (rs2235611) (human) PMID:21309690|REF_RGD_ID:11039452 8896804 Srsf6 serine and arginine rich splicing factor 6 gene DOID:1324 lung cancer ISO RGD:1342668 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:23132731|REF_RGD_ID:11039482 8896804 Srsf6 serine and arginine rich splicing factor 6 gene DOID:2234 focal epilepsy ISO RGD:1342668 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8896804 Srsf6 serine and arginine rich splicing factor 6 gene DOID:234 colon adenocarcinoma ISO RGD:1342668 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon mucosa (human) PMID:9865741|REF_RGD_ID:11039405 8896804 Srsf6 serine and arginine rich splicing factor 6 gene DOID:4159 skin cancer ISO RGD:1342668 D RGD:9068941 20200609 RGD protein:increased expression:skin (human) PMID:24440982|REF_RGD_ID:11039481 8896804 Srsf6 serine and arginine rich splicing factor 6 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1342668 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney (human) PMID:21082031|REF_RGD_ID:11039407 8896804 Srsf6 serine and arginine rich splicing factor 6 gene DOID:630 genetic disease ISO RGD:1342668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896804 Srsf6 serine and arginine rich splicing factor 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1342668 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;mRNA:increased expression:epithelium of female gonad (human) PMID:23748175|REF_RGD_ID:11039469 8896804 Srsf6 serine and arginine rich splicing factor 6 gene DOID:9006285 Epidermal Hyperplasia ISO RGD:1342668 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24440982|REF_RGD_ID:11039481 8896831 Ahi1 Abelson helper integration site 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1348620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038 8896831 Ahi1 Abelson helper integration site 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1348620 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038|PMID:36819107 8896831 Ahi1 Abelson helper integration site 1 gene DOID:0050777 Joubert syndrome ISO RGD:1348620 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:15322546|PMID:16155189|PMID:16453322|PMID:17377524|PMID:25741868|PMID:26092869|PMID:26541515|PMID:26729329|PMID:27434533|PMID:28041643|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29146704|PMID:29186038|PMID:31624253|PMID:34627237 8896831 Ahi1 Abelson helper integration site 1 gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27723758 8896831 Ahi1 Abelson helper integration site 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1348620 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype PMID:18782849|REF_RGD_ID:11537389 8896831 Ahi1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26729329|PMID:26759440|PMID:28041643|PMID:28118669|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:31319225|PMID:32865313|PMID:34906502|PMID:9536098 8896831 Ahi1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:20301500|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31319225|PMID:32335874|PMID:32865313|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:9536098 8896831 Ahi1 Abelson helper integration site 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348620 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31069529|PMID:31319225|PMID:32335874|PMID:32865313|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:36819107|PMID:9536098 8896831 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:7240710 20180130 OMIM 8896831 Ahi1 Abelson helper integration site 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1348620 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16240161|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25558065|PMID:25616960|PMID:25741868|PMID:25741869|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29146704|PMID:29186038|PMID:29343940|PMID:30055837|PMID:31130284|PMID:31624253|PMID:32165824|PMID:32865313|PMID:33879512|PMID:34191236|PMID:34906502|PMID:9536098 8896831 Ahi1 Abelson helper integration site 1 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1317734 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) PMID:17409309|REF_RGD_ID:7246903 8896831 Ahi1 Abelson helper integration site 1 gene DOID:0111589 COACH syndrome ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome with ocular defect PMID:15322546|PMID:16453322|PMID:18054307|PMID:21623382|PMID:21937992|PMID:25525159|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038 8896831 Ahi1 Abelson helper integration site 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1348620 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15322546|PMID:16453322|PMID:21866095|PMID:24033266|PMID:25445212|PMID:25741868|PMID:26092869|PMID:28041643|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:32165824|PMID:34191236 8896831 Ahi1 Abelson helper integration site 1 gene DOID:1059 intellectual disability ISO RGD:1348620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16453322|PMID:25741868|PMID:28492532 8896831 Ahi1 Abelson helper integration site 1 gene DOID:12712 nephronophthisis ISO RGD:1348620 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15322546|PMID:16155189|PMID:16453322|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038 8896831 Ahi1 Abelson helper integration site 1 gene DOID:12849 autistic disorder ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18782849 8896831 Ahi1 Abelson helper integration site 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1348620 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:15322546|PMID:16453322|PMID:25445212|PMID:25741868|PMID:26092869|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:32165824 8896831 Ahi1 Abelson helper integration site 1 gene DOID:2786 cerebellar disease ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20371615 8896831 Ahi1 Abelson helper integration site 1 gene DOID:5419 schizophrenia ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20371615 8896831 Ahi1 Abelson helper integration site 1 gene DOID:630 genetic disease ISO RGD:1348620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15322546|PMID:16453322|PMID:17409309|PMID:17576681|PMID:21068128|PMID:22693042|PMID:25741868|PMID:28442542|PMID:28492532|PMID:29186038|PMID:9536098 8896831 Ahi1 Abelson helper integration site 1 gene DOID:8466 retinal degeneration ISO RGD:1348620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081859 8896831 Ahi1 Abelson helper integration site 1 gene DOID:8501 fundus dystrophy ISO RGD:1348620 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15322546|PMID:16155189|PMID:16453322|PMID:18054307|PMID:21068128|PMID:21937992|PMID:24033266|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28041643|PMID:28442542|PMID:28492532|PMID:29186038|PMID:34191236|PMID:36819107 8896831 Ahi1 Abelson helper integration site 1 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1348620 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8896831 Ahi1 Abelson helper integration site 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:15322546|PMID:23532844|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30755392 8896831 Ahi1 Abelson helper integration site 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1348620 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 8896831 Ahi1 Abelson helper integration site 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348620 D RGD:9068941 20200609 RGD mRNA:increased expression:vastus lateralis PMID:20045148|REF_RGD_ID:11537398 8896831 Ahi1 Abelson helper integration site 1 gene DOID:9970 obesity ISO RGD:1348620 D RGD:9068941 20200609 RGD mRNA:increased expression:vastus lateralis PMID:20045148|REF_RGD_ID:11537398 8896877 Plac8 placenta associated 8 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1317680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8896877 Plac8 placenta associated 8 gene DOID:10603 glucose intolerance ISO RGD:1308102 D RGD:9068941 20200609 RGD associated with obesity PMID:26296322|REF_RGD_ID:10755343 8896877 Plac8 placenta associated 8 gene DOID:13272 Klebsiella pneumonia severity ISO RGD:1317681 D RGD:9068941 20210115 RGD PMID:17404296|REF_RGD_ID:40924563 8896877 Plac8 placenta associated 8 gene DOID:630 genetic disease ISO RGD:1317680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896877 Plac8 placenta associated 8 gene DOID:684 hepatocellular carcinoma ISO RGD:1317680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8896877 Plac8 placenta associated 8 gene DOID:9000371 influenza A ISO RGD:1317681 D RGD:9068941 20210122 RGD PMID:32639988|REF_RGD_ID:40925929 8896877 Plac8 placenta associated 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8896877 Plac8 placenta associated 8 gene DOID:9002953 Escherichia Coli Infections severity ISO RGD:1317681 D RGD:9068941 20210115 RGD PMID:17404296|REF_RGD_ID:40924563 8896877 Plac8 placenta associated 8 gene DOID:9007692 Insulin Resistance ISO RGD:1308102 D RGD:9068941 20200609 RGD associated with obesity PMID:26296322|REF_RGD_ID:10755343 8896877 Plac8 placenta associated 8 gene DOID:9008090 Chlamydiaceae Infections exacerbates ISO RGD:1317681 D RGD:9068941 20210205 RGD PMID:22238459|REF_RGD_ID:40925930 8896886 Kif5a kinesin family member 5A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347916 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:20386726|PMID:25008398|PMID:25741868|PMID:29892902 8896886 Kif5a kinesin family member 5A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1550437 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse) PMID:23006449|REF_RGD_ID:12798528 8896886 Kif5a kinesin family member 5A gene DOID:0081379 amyotrophic lateral sclerosis type 25 ISO RGD:1347916 D RGD:7240710 20240131 OMIM 8896886 Kif5a kinesin family member 5A gene DOID:0081379 amyotrophic lateral sclerosis type 25 ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis PMID:17576681|PMID:25741868|PMID:28492532|PMID:29342275|PMID:29566793|PMID:32815063|PMID:9536098 8896886 Kif5a kinesin family member 5A gene DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:25741868|PMID:28492532|PMID:32579787 8896886 Kif5a kinesin family member 5A gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1347916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 8896886 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:7240710 20240131 OMIM 8896886 Kif5a kinesin family member 5A gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1347916 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:12355402|PMID:15452312|PMID:16476820|PMID:16489470|PMID:17576681|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:22714410|PMID:24123792|PMID:24731568|PMID:25008398|PMID:25352184|PMID:25695920|PMID:25741868|PMID:26374131|PMID:26467025|PMID:26543653|PMID:27084214|PMID:28362824|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29566793|PMID:29892902|PMID:29908077|PMID:29954873|PMID:30057544|PMID:30778698|PMID:31211173|PMID:31403080|PMID:31422367|PMID:31475037|PMID:33059505|PMID:33310205|PMID:34715294|PMID:35578252|PMID:37524782|PMID:9536098 8896886 Kif5a kinesin family member 5A gene DOID:10283 prostate cancer ISO RGD:1347916 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 8896886 Kif5a kinesin family member 5A gene DOID:12859 choreatic disease ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:25741868|PMID:28492532 8896886 Kif5a kinesin family member 5A gene DOID:1826 epilepsy ISO RGD:1550437 D RGD:9068941 20200609 RGD PMID:23217743|REF_RGD_ID:12859092 8896886 Kif5a kinesin family member 5A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1347916 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1717-152C>G (rs1678542) (human) PMID:20508602|REF_RGD_ID:12793067 8896886 Kif5a kinesin family member 5A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:15452312|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26467025|PMID:26543653|PMID:28492532|PMID:28708278|PMID:28832565|PMID:29892902|PMID:31211173|PMID:31403080|PMID:31475037 8896886 Kif5a kinesin family member 5A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347916 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:15452312|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:25008398|PMID:25695920|PMID:25741868|PMID:26467025|PMID:26543653|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29892902|PMID:30057544|PMID:31211173|PMID:31403080|PMID:31475037|PMID:33059505|PMID:33310205|PMID:34715294|PMID:35578252|PMID:37524782 8896886 Kif5a kinesin family member 5A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:26467025|PMID:28492532 8896886 Kif5a kinesin family member 5A gene DOID:5214 demyelinating polyneuropathy ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Demyelinating peripheral neuropathy PMID:15452312|PMID:18853458|PMID:25008398|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29892902 8896886 Kif5a kinesin family member 5A gene DOID:5419 schizophrenia ISO RGD:1347916 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8896886 Kif5a kinesin family member 5A gene DOID:574 peripheral nervous system disease ISO RGD:1347916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18853458|PMID:21623771|PMID:25008398|PMID:25741868 8896886 Kif5a kinesin family member 5A gene DOID:607 paraplegia ISO RGD:1347916 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15452312|PMID:16199547|PMID:16476820|PMID:16489470|PMID:17576681|PMID:18203753|PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:22714410|PMID:24123792|PMID:24731568|PMID:25008398|PMID:25352184|PMID:25640679|PMID:25695920|PMID:25741868|PMID:26374131|PMID:26403765|PMID:26467025|PMID:26543653|PMID:27084214|PMID:27414745|PMID:28362824|PMID:28492532|PMID:28678816|PMID:28708278|PMID:28832565|PMID:29342275|PMID:29566793|PMID:29892902|PMID:29908077|PMID:29954873|PMID:30057544|PMID:30778698|PMID:31211173|PMID:31403080|PMID:31422367|PMID:31475037|PMID:31612903|PMID:32501971|PMID:32579787|PMID:32815063|PMID:32888732|PMID:33059505|PMID:33310205|PMID:33589474|PMID:34715294|PMID:35578252|PMID:37524782|PMID:9536098 8896886 Kif5a kinesin family member 5A gene DOID:630 genetic disease ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:27957547|PMID:28492532 8896886 Kif5a kinesin family member 5A gene DOID:6846 familial melanoma ISO RGD:1347916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8896886 Kif5a kinesin family member 5A gene DOID:7148 rheumatoid arthritis ISO RGD:1347916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8896886 Kif5a kinesin family member 5A gene DOID:7148 rheumatoid arthritis ISO RGD:1347916 D RGD:9068941 20200609 RGD DNA:snps:intron, 3' utr:c.2756-43A>C, c.*776C>T (rs775246, rs775251) (human) PMID:21784728|REF_RGD_ID:12793073 8896886 Kif5a kinesin family member 5A gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1347916 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1717-152C>G (rs1678542) (human) PMID:23378462|REF_RGD_ID:12793072 8896886 Kif5a kinesin family member 5A gene DOID:7596 asbestos-related lung carcinoma susceptibility ISO RGD:1347916 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21231887|REF_RGD_ID:12793066 8896886 Kif5a kinesin family member 5A gene DOID:870 neuropathy ISO RGD:1347916 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:18853458|PMID:21623771|PMID:25008398|PMID:25741868 8896886 Kif5a kinesin family member 5A gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1347916 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Inherited neurodegenerative disorder PMID:25741868 8896886 Kif5a kinesin family member 5A gene DOID:9001890 Auditory Neuropathy ISO RGD:1347916 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy 8896886 Kif5a kinesin family member 5A gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1347916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 8896886 Kif5a kinesin family member 5A gene DOID:9006777 Neonatal Intractable Myoclonus ISO RGD:1347916 D RGD:7240710 20240131 OMIM 8896886 Kif5a kinesin family member 5A gene DOID:9006777 Neonatal Intractable Myoclonus ISO RGD:1347916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal PMID:18500496|PMID:18853458|PMID:21623771|PMID:22552817|PMID:24215330|PMID:24731568|PMID:25008398|PMID:25741868|PMID:26374131|PMID:26543653|PMID:27414745|PMID:27463701|PMID:28492532|PMID:28678816 8896919 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8896919 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8896919 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8896919 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8896919 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8896919 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8896919 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:5812 MHC class II deficiency ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8896919 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:630 genetic disease ISO RGD:1314286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896919 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1314286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8896919 Iqgap3 IQ motif containing GTPase activating protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8896965 Nlgn3 neuroligin 3 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:733571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 8896965 Nlgn3 neuroligin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8896965 Nlgn3 neuroligin 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8896965 Nlgn3 neuroligin 3 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:733571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8896965 Nlgn3 neuroligin 3 gene DOID:1059 intellectual disability ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 8896965 Nlgn3 neuroligin 3 gene DOID:11446 sciatic neuropathy ISO RGD:621119 D RGD:9068941 20200609 RGD mRNA:decreased expression:sciatic nerve PMID:17492651|REF_RGD_ID:9831149 8896965 Nlgn3 neuroligin 3 gene DOID:12849 autistic disorder ISO RGD:733571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 1 | ClinVar Annotator: match by term: Autistic behavior PMID:12669065|PMID:15150161|PMID:15152050|PMID:21681106|PMID:25741868|PMID:30208311|PMID:31184401|PMID:35012288 8896965 Nlgn3 neuroligin 3 gene DOID:12849 autistic disorder susceptibility ISO RGD:733571 D RGD:7240710 20190502 OMIM 8896965 Nlgn3 neuroligin 3 gene DOID:1921 Klinefelter syndrome ISO RGD:733571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8896965 Nlgn3 neuroligin 3 gene DOID:630 genetic disease ISO RGD:733571 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16508939|PMID:23849776|PMID:25741868|PMID:28492532 8896965 Nlgn3 neuroligin 3 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder 8896965 Nlgn3 neuroligin 3 gene DOID:9007898 FG Syndrome 1 ISO RGD:733571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 8896979 Cldn16 claudin 16 gene DOID:0060879 primary hypomagnesemia ISO RGD:1351544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hypomagnesemia PMID:10390358|PMID:10878661|PMID:11518780|PMID:15856319|PMID:16234325|PMID:16501001|PMID:16705067|PMID:18003771|PMID:20607983|PMID:24033266|PMID:25477417|PMID:25741868|PMID:25852890|PMID:26426912|PMID:28492532|PMID:28893421|PMID:32860008|PMID:33532864|PMID:668721 8896979 Cldn16 claudin 16 gene DOID:0060880 renal hypomagnesemia 3 ISO RGD:1351544 D RGD:7240710 20180228 OMIM 8896979 Cldn16 claudin 16 gene DOID:0060881 renal hypomagnesemia 5 with ocular involvement ISO RGD:1351544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement 8896979 Cldn16 claudin 16 gene DOID:10763 hypertension ISO RGD:620322 D RGD:9068941 20200609 RGD Protein:decreased serine phosphorylation:kidney PMID:16959063|REF_RGD_ID:1599616 8896979 Cldn16 claudin 16 gene DOID:12679 nephrocalcinosis ISO RGD:1351544 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10390358|PMID:25741868|PMID:28893421 8896979 Cldn16 claudin 16 gene DOID:447 renal tubular transport disease susceptibility ISO RGD:1351544 D RGD:9068941 20200609 RGD DNA:mutation: ; PRIMARY HYPOMAGNESEMIA, OMIM#248250 PMID:10390358|REF_RGD_ID:1599615 8896979 Cldn16 claudin 16 gene DOID:5419 schizophrenia ISO RGD:1351544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8896979 Cldn16 claudin 16 gene DOID:630 genetic disease ISO RGD:1351544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33532864 8896979 Cldn16 claudin 16 gene DOID:9001738 Hypercalciuria ISO RGD:1351544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting PMID:14628289 8896979 Cldn16 claudin 16 gene DOID:9007711 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ISO RGD:1351544 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome PMID:12164927|PMID:15521008|PMID:16619213|PMID:25741868|PMID:28492532 8896992 Rab17 RAB17, member RAS oncogene family gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1346493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8896992 Rab17 RAB17, member RAS oncogene family gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1346493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8896992 Rab17 RAB17, member RAS oncogene family gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1346493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8896992 Rab17 RAB17, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1346493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8896992 Rab17 RAB17, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1346493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8896992 Rab17 RAB17, member RAS oncogene family gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1346493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8896999 Wdr31 WD repeat domain 31 gene DOID:630 genetic disease ISO RGD:1319678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897035 Capn6 calpain 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8897035 Capn6 calpain 6 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:734276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 8897035 Capn6 calpain 6 gene DOID:10283 prostate cancer ISO RGD:734276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8897035 Capn6 calpain 6 gene DOID:12849 autistic disorder ISO RGD:734276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8897035 Capn6 calpain 6 gene DOID:5419 schizophrenia ISO RGD:734276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8897035 Capn6 calpain 6 gene DOID:630 genetic disease ISO RGD:734276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897052 Tcea1 transcription elongation factor A1 gene DOID:630 genetic disease ISO RGD:1320461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897070 Bola3 bolA family member 3 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1606380 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8897070 Bola3 bolA family member 3 gene DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ISO RGD:1606380 D RGD:7240710 20180130 OMIM 8897070 Bola3 bolA family member 3 gene DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ISO RGD:1606380 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 PMID:11156534|PMID:21944046|PMID:22562699|PMID:24334290|PMID:25741868|PMID:26741492|PMID:28492532|PMID:30302924 8897070 Bola3 bolA family member 3 gene DOID:543 dystonia ISO RGD:1606380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8897070 Bola3 bolA family member 3 gene DOID:630 genetic disease ISO RGD:1606380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8897070 Bola3 bolA family member 3 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1606380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8897082 Aasdh aminoadipate-semialdehyde dehydrogenase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 8897082 Aasdh aminoadipate-semialdehyde dehydrogenase gene DOID:630 genetic disease ISO RGD:1606160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897100 Tekt5 tektin 5 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1605283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8897100 Tekt5 tektin 5 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1605283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8897100 Tekt5 tektin 5 gene DOID:5419 schizophrenia ISO RGD:1605283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8897100 Tekt5 tektin 5 gene DOID:5812 MHC class II deficiency ISO RGD:1605283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 8897100 Tekt5 tektin 5 gene DOID:630 genetic disease ISO RGD:1605283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897124 Fam180a family with sequence similarity 180 member A gene DOID:289 endometriosis ISO RGD:1604688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8897124 Fam180a family with sequence similarity 180 member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8897124 Fam180a family with sequence similarity 180 member A gene DOID:630 genetic disease ISO RGD:1604688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897124 Fam180a family with sequence similarity 180 member A gene DOID:684 hepatocellular carcinoma ISO RGD:1604688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8897137 Nbl1 NBL1, DAN family BMP antagonist gene DOID:0060369 Parkinson's disease 6 ISO RGD:736912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8897137 Nbl1 NBL1, DAN family BMP antagonist gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736912 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8897137 Nbl1 NBL1, DAN family BMP antagonist gene DOID:0080543 hyperprolinemia type 2 ISO RGD:736912 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8897137 Nbl1 NBL1, DAN family BMP antagonist gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:736912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8897137 Nbl1 NBL1, DAN family BMP antagonist gene DOID:630 genetic disease ISO RGD:736912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897137 Nbl1 NBL1, DAN family BMP antagonist gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8897146 Atf7ip2 activating transcription factor 7 interacting protein 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1314578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8897146 Atf7ip2 activating transcription factor 7 interacting protein 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1314578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8897146 Atf7ip2 activating transcription factor 7 interacting protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1314578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8897146 Atf7ip2 activating transcription factor 7 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1314578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897190 Gatad2a GATA zinc finger domain containing 2A gene DOID:630 genetic disease ISO RGD:1603219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897190 Gatad2a GATA zinc finger domain containing 2A gene DOID:9000217 Stomach Neoplasms ISO RGD:1603219 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 8897190 Gatad2a GATA zinc finger domain containing 2A gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1603219 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35362730 8897228 Pla2g4b phospholipase A2 group IVB gene DOID:2717 Bloom syndrome ISO RGD:1318557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8897228 Pla2g4b phospholipase A2 group IVB gene DOID:630 genetic disease ISO RGD:1318557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897228 Pla2g4b phospholipase A2 group IVB gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8897228 Pla2g4b phospholipase A2 group IVB gene DOID:9256 colorectal cancer ISO RGD:1318557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8897290 Ppp6c protein phosphatase 6 catalytic subunit gene DOID:1909 melanoma ISO RGD:734407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 8897290 Ppp6c protein phosphatase 6 catalytic subunit gene DOID:2513 basal cell carcinoma ISO RGD:734407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 8897290 Ppp6c protein phosphatase 6 catalytic subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:734407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 8897290 Ppp6c protein phosphatase 6 catalytic subunit gene DOID:630 genetic disease ISO RGD:734407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897290 Ppp6c protein phosphatase 6 catalytic subunit gene DOID:8923 skin melanoma ISO RGD:734407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:26619011 8897309 Pdcd6 programmed cell death 6 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1322592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 8897309 Pdcd6 programmed cell death 6 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1322592 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8897309 Pdcd6 programmed cell death 6 gene DOID:630 genetic disease ISO RGD:1322592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897338 Wdr25 WD repeat domain 25 gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:1606781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 8897338 Wdr25 WD repeat domain 25 gene DOID:2843 long QT syndrome ISO RGD:1606781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8897338 Wdr25 WD repeat domain 25 gene DOID:630 genetic disease ISO RGD:1606781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897347 Ip6k1 inositol hexakisphosphate kinase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8897347 Ip6k1 inositol hexakisphosphate kinase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8897347 Ip6k1 inositol hexakisphosphate kinase 1 gene DOID:630 genetic disease ISO RGD:1343323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897347 Ip6k1 inositol hexakisphosphate kinase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1343323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21353246|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23348805|PMID:23485969|PMID:23551881|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25414397|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:29207974|PMID:29355436|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30665703|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31875549|PMID:31957151|PMID:32583173|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21353246|PMID:22060211|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23348805|PMID:23485969|PMID:23551881|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25414397|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29417725|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30665703|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31704690|PMID:31875549|PMID:31957151|PMID:32583173|PMID:34556497|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10592235|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15111529|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16199547|PMID:16223942|PMID:16602010|PMID:16640558|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:19478207|PMID:20164212|PMID:20705777|PMID:21105491|PMID:21353246|PMID:21683639|PMID:22060211|PMID:22308320|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23275527|PMID:23348805|PMID:23485969|PMID:23551881|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26552609|PMID:26971647|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27552834|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28166811|PMID:28242437|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29417725|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30447144|PMID:30648609|PMID:30663027|PMID:30665703|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31704690|PMID:31825128|PMID:31875549|PMID:31957151|PMID:32533152|PMID:32583173|PMID:34440499|PMID:34556497|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:35737141|PMID:36227502|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10592235|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15111529|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16199547|PMID:16223942|PMID:16602010|PMID:16640558|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:19478207|PMID:20164212|PMID:20705777|PMID:21105491|PMID:21353246|PMID:21683639|PMID:22060211|PMID:22308320|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23275527|PMID:23348805|PMID:23485969|PMID:23551881|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26552609|PMID:26971647|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27552834|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28166811|PMID:28242437|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29417725|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30447144|PMID:30648609|PMID:30663027|PMID:30665703|PMID:30977832|PMID:31291970|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31704690|PMID:31825128|PMID:31875549|PMID:31957151|PMID:32533152|PMID:32583173|PMID:34440499|PMID:34556497|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:35737141|PMID:36227502|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:69093 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10227563|PMID:10389854|PMID:10447526|PMID:10592235|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12627330|PMID:12669197|PMID:15111529|PMID:15281001|PMID:15793260|PMID:15830177|PMID:15928245|PMID:16199547|PMID:16223942|PMID:16602010|PMID:16640558|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17407387|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19406499|PMID:19478207|PMID:20164212|PMID:20705777|PMID:21105491|PMID:21353246|PMID:21683639|PMID:22060211|PMID:22308320|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23268925|PMID:23275527|PMID:23348805|PMID:23485969|PMID:23551881|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24947580|PMID:25041077|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25631608|PMID:25741868|PMID:25819479|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26552609|PMID:26971647|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27552834|PMID:27810688|PMID:27846149|PMID:27913849|PMID:28166811|PMID:28242437|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29417725|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30447144|PMID:30648609|PMID:30663027|PMID:30665703|PMID:30977832|PMID:31264968|PMID:31291970|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31704690|PMID:31825128|PMID:31875549|PMID:31957151|PMID:32418360|PMID:32533152|PMID:32583173|PMID:34440499|PMID:34556497|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35089870|PMID:35118593|PMID:35737141|PMID:36227502|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0050770 polycystic liver disease ISO RGD:69093 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:10227563|PMID:21105491|PMID:23227446|PMID:23247789|PMID:24097065|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29355436|PMID:30191603|PMID:31264968|PMID:31595705 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0080760 Fanconi renotubular syndrome 4 ISO RGD:69093 D RGD:7240710 20180130 OMIM 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0080760 Fanconi renotubular syndrome 4 ISO RGD:69093 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: FRTS4 WITH MODY | ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young PMID:10227563|PMID:15123688|PMID:15826954|PMID:17563455|PMID:18268044|PMID:20164212|PMID:21105491|PMID:21683639|PMID:22802087|PMID:23227446|PMID:23247789|PMID:23348805|PMID:23485969|PMID:24097065|PMID:24285859|PMID:25741868|PMID:25819479|PMID:25905084|PMID:26059258|PMID:26467025|PMID:27245055|PMID:27884173|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:29355436|PMID:30005691|PMID:30191603|PMID:30977832|PMID:31264968|PMID:31529154|PMID:31529156|PMID:31595705|PMID:31875549|PMID:32583173|PMID:35052457|PMID:35118593 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69093 D RGD:7240710 20180130 OMIM 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69093 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10227563|PMID:10389854|PMID:10447526|PMID:10592235|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10905494|PMID:10983627|PMID:11043869|PMID:11272211|PMID:11435618|PMID:11575290|PMID:12050210|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12235114|PMID:12242469|PMID:12627330|PMID:12669197|PMID:15111529|PMID:15123688|PMID:15281001|PMID:15728204|PMID:15793260|PMID:15826954|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16640558|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17389749|PMID:17407387|PMID:17563455|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19478207|PMID:20164212|PMID:20705777|PMID:21062274|PMID:21105491|PMID:21353246|PMID:21683639|PMID:22140441|PMID:22232426|PMID:22308320|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23247789|PMID:23275527|PMID:23348805|PMID:23485969|PMID:23506826|PMID:23551881|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24476040|PMID:24947580|PMID:25041077|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25631608|PMID:25741868|PMID:25819479|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26552609|PMID:26740944|PMID:26971647|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27552834|PMID:27884173|PMID:27913849|PMID:28166811|PMID:28242437|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30191603|PMID:30191644|PMID:30447144|PMID:30648609|PMID:30663027|PMID:30665703|PMID:30977832|PMID:31264968|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31578528|PMID:31595705|PMID:31825128|PMID:31875549|PMID:32041611|PMID:32533152|PMID:32583173|PMID:33046911|PMID:34440499|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:35737141|PMID:36227502|PMID:36257325|PMID:8945471|PMID:9267996|PMID:9294105|PMID:9313765|PMID:9371825|PMID:9449683|PMID:9920109 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69093 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10227563|PMID:10389854|PMID:10447526|PMID:10592235|PMID:10606640|PMID:10768098|PMID:10819248|PMID:10905494|PMID:10983627|PMID:11043869|PMID:11272211|PMID:11435618|PMID:11575290|PMID:12050210|PMID:12110948|PMID:12193589|PMID:12203996|PMID:12220494|PMID:12235114|PMID:12242469|PMID:12627330|PMID:12669197|PMID:15111529|PMID:15123688|PMID:15281001|PMID:15728204|PMID:15793260|PMID:15826954|PMID:15830177|PMID:15928245|PMID:16223942|PMID:16602010|PMID:16640558|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17389749|PMID:17407387|PMID:17563455|PMID:18268044|PMID:18356407|PMID:18414213|PMID:18811724|PMID:193395|PMID:19478207|PMID:20164212|PMID:20705777|PMID:21062274|PMID:21105491|PMID:21353246|PMID:21683639|PMID:22140441|PMID:22232426|PMID:22308320|PMID:22662265|PMID:22802087|PMID:23227446|PMID:23247789|PMID:23268925|PMID:23275527|PMID:23348805|PMID:23485969|PMID:23506826|PMID:23551881|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24285859|PMID:24476040|PMID:24947580|PMID:25041077|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25631608|PMID:25741868|PMID:25819479|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26552609|PMID:26740944|PMID:26971647|PMID:26981542|PMID:27080136|PMID:27245055|PMID:27420379|PMID:27486234|PMID:27552834|PMID:27884173|PMID:27913849|PMID:28166811|PMID:28242437|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:28862987|PMID:29207974|PMID:29355436|PMID:29493090|PMID:29792621|PMID:29998026|PMID:30005691|PMID:30191603|PMID:30191644|PMID:30447144|PMID:30648609|PMID:30663027|PMID:30665703|PMID:30977832|PMID:31264968|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31578528|PMID:31595705|PMID:31825128|PMID:31875549|PMID:32041611|PMID:32418360|PMID:32533152|PMID:32583173|PMID:33046911|PMID:34440499|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:35737141|PMID:36227502|PMID:36257325|PMID:8945471|PMID:9267996|PMID:9294105|PMID:9313765|PMID:9371825|PMID:9449683|PMID:9920109 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0111100 maturity-onset diabetes of the young type 2 ISO RGD:69093 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:69093 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:25741868|PMID:36257325 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:1062 Fanconi syndrome ISO RGD:1550718 D RGD:9068941 20220825 MouseDO OMIM:134600 | OMIM:613388 | OMIM:615605 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:13809 familial combined hyperlipidemia ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:haplotype: :rs6031558,rs745975, rs3212198(human) PMID:18340007|REF_RGD_ID:12904697 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:1686 glaucoma ISO RGD:69093 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:2018 hyperinsulinism ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism due to HNF4A deficiency | ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:10983627|PMID:15793260|PMID:16883527|PMID:16917892|PMID:16946562|PMID:17563455|PMID:17573900|PMID:18268044|PMID:18811724|PMID:19406499|PMID:20164212|PMID:20705777|PMID:21353246|PMID:22662265|PMID:22802087|PMID:23348805|PMID:23485969|PMID:24033266|PMID:24285859|PMID:25741868|PMID:25819479|PMID:26467025|PMID:27245055|PMID:27846149|PMID:28458902|PMID:28492532|PMID:28693455|PMID:28844315|PMID:29493090|PMID:29998026|PMID:30005691|PMID:30977832|PMID:31523701|PMID:31529154|PMID:31529156|PMID:31875549|PMID:32583173|PMID:34789499|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9267996|PMID:9313765|PMID:9449683 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:2234 focal epilepsy ISO RGD:69093 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:5082 liver cirrhosis ISO RGD:69093 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:20876809|REF_RGD_ID:12904747 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:630 genetic disease ISO RGD:69093 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17563455|PMID:18268044|PMID:32583173|PMID:35052457|PMID:35118593 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:2810 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:20876809|REF_RGD_ID:12904747 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:69093 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:20876809|REF_RGD_ID:12904747 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:8577 ulcerative colitis ISO RGD:69093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:69093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9000808 Hypercholesterolemia resistance ISO RGD:69093 D RGD:9068941 20200609 RGD Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1B (2-1-1) PMID:16804065|REF_RGD_ID:1601642 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:69093 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:10227563|PMID:21105491|PMID:23227446|PMID:23247789|PMID:24097065|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:27884173|PMID:28492532|PMID:29355436|PMID:30191603|PMID:31264968|PMID:31595705 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9002165 Diabetic Nephropathies ISO RGD:2810 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, liver PMID:18184923|REF_RGD_ID:2301838 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:altered methylation:prompter: PMID:20126273|REF_RGD_ID:12904699 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9002427 Fetal Macrosomia ISO RGD:2810 D RGD:9068941 20200609 RGD PMID:19435144|REF_RGD_ID:12904767 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9002427 Fetal Macrosomia ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:17407387|REF_RGD_ID:12904698 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9003426 Glycosuria ISO RGD:69093 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glycosuria PMID:10983627|PMID:15793260|PMID:16883527|PMID:16946562|PMID:17573900|PMID:18811724|PMID:19406499|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27846149|PMID:28492532|PMID:9267996|PMID:9313765|PMID:9449683 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1550718 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:19179483|REF_RGD_ID:12904769 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2810 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, liver PMID:18184923|REF_RGD_ID:2301838 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9006599 Hypertriglyceridemia ISO RGD:69093 D RGD:9068941 20200609 RGD Finnish and Mexican populations; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) PMID:16804065|REF_RGD_ID:1601642 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9006646 Metabolic Syndrome ISO RGD:69093 D RGD:9068941 20200609 RGD Finnish population; DNA:haplotype:CDS:SNPs rs6031558-rs745975-rs3212198, haplotype H1A (1-1-2) PMID:16804065|REF_RGD_ID:1601642 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:69093 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial hyperinsulinism PMID:10227563|PMID:10447526|PMID:10983627|PMID:12669197|PMID:15281001|PMID:15793260|PMID:15928245|PMID:16883527|PMID:16946562|PMID:17563455|PMID:18268044|PMID:18414213|PMID:20164212|PMID:21105491|PMID:22140441|PMID:22232426|PMID:23227446|PMID:23247789|PMID:24033266|PMID:24097065|PMID:24476040|PMID:25041077|PMID:25631608|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26512799|PMID:26740944|PMID:26981542|PMID:27080136|PMID:27420379|PMID:27884173|PMID:28492532|PMID:29207974|PMID:29355436|PMID:29792621|PMID:30191603|PMID:31264968|PMID:31595705|PMID:32583173|PMID:34805411|PMID:35052457|PMID:35118593 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9351 diabetes mellitus ISO RGD:69093 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10227563|PMID:10389854|PMID:10606640|PMID:10819248|PMID:10983627|PMID:11043869|PMID:11272211|PMID:12050210|PMID:12203996|PMID:12235114|PMID:12627330|PMID:12669197|PMID:15123688|PMID:15728204|PMID:15826954|PMID:15830177|PMID:16199547|PMID:16223942|PMID:16602010|PMID:16883527|PMID:16946562|PMID:17407387|PMID:17563455|PMID:18268044|PMID:18356407|PMID:18414213|PMID:193395|PMID:20164212|PMID:21062274|PMID:21105491|PMID:21683639|PMID:23227446|PMID:23247789|PMID:23275527|PMID:23348805|PMID:23485969|PMID:23551881|PMID:24033266|PMID:24097065|PMID:24285859|PMID:25306193|PMID:25414397|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26552609|PMID:26981542|PMID:27080136|PMID:27486234|PMID:27884173|PMID:27913849|PMID:28492532|PMID:29207974|PMID:29355436|PMID:30026763|PMID:30191603|PMID:30191644|PMID:30665703|PMID:30977832|PMID:31264968|PMID:31595705|PMID:31825128|PMID:31957151|PMID:32041611|PMID:32583173|PMID:34789499|PMID:34805411|PMID:35052457|PMID:35118593|PMID:35737141|PMID:36257325|PMID:9267996|PMID:9313765 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:69093 D RGD:7240710 20180130 OMIM 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:69093 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10227563|PMID:10447526|PMID:10983627|PMID:12669197|PMID:15281001|PMID:16883527|PMID:16946562|PMID:18414213|PMID:21105491|PMID:23227446|PMID:23247789|PMID:23268925|PMID:24033266|PMID:24097065|PMID:25041077|PMID:25741868|PMID:25905084|PMID:26059258|PMID:26467025|PMID:26981542|PMID:27080136|PMID:27420379|PMID:27884173|PMID:28492532|PMID:29355436|PMID:29792621|PMID:30191603|PMID:31264968|PMID:31595705|PMID:34805411|PMID:35052457|PMID:35118593|PMID:36257325|PMID:9449683 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:SNP::rs4810424 and rs3212198 nominally associated with future risk of developing T2DM (p=0.04) in individuals from the Botnia study in Finland and the Malmo project in Sweden PMID:18332101|REF_RGD_ID:2301863 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:(human) PMID:18728231|REF_RGD_ID:2301836 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69093 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.T130I PMID:18028455|REF_RGD_ID:2301839 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9993 hypoglycemia ISO RGD:1550718 D RGD:9068941 20200609 RGD PMID:17407387|REF_RGD_ID:12904698 8897372 Hnf4a hepatocyte nuclear factor 4 alpha gene DOID:9993 hypoglycemia ISO RGD:69093 D RGD:9068941 20200609 RGD associated with Hyperinsulinemia;DNA:frameshift mutation, nonsense mutation, splice-site mutation PMID:18268044|REF_RGD_ID:2301837 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1320737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome PMID:25741868 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0050834 CHARGE syndrome ISO RGD:1616514 D RGD:9068941 20220825 MouseDO OMIM:214800 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1320737 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset PMID:22495311|PMID:23708187|PMID:24207121|PMID:24859339|PMID:25741868|PMID:25783594|PMID:28492532|PMID:29358611|PMID:31332282|PMID:31785789 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0070529 Sifrim-Hitz-Weiss syndrome ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1320737 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0081325 developmental and epileptic encephalopathy 94 ISO RGD:1320737 D RGD:7240710 20210421 OMIM 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0081325 developmental and epileptic encephalopathy 94 ISO RGD:1320737 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94 PMID:15955779|PMID:15988005|PMID:16199547|PMID:17576681|PMID:22178256|PMID:23020937|PMID:23708187|PMID:24207121|PMID:24614520|PMID:24932903|PMID:25262651|PMID:25326635|PMID:25363768|PMID:25384982|PMID:25418537|PMID:25640679|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26615199|PMID:26754451|PMID:26795593|PMID:27781031|PMID:27824329|PMID:28074849|PMID:28166811|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28554332|PMID:28960266|PMID:29358611|PMID:29455050|PMID:29720203|PMID:29740950|PMID:29933521|PMID:30525188|PMID:30564305|PMID:30868116|PMID:31031587|PMID:31170314|PMID:31273778|PMID:31332282|PMID:31618753|PMID:31677157|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32238909|PMID:33004838|PMID:33176815|PMID:33584793|PMID:33619735|PMID:34713950|PMID:35222528|PMID:9326634|PMID:9536098 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25384982|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9326634|PMID:9536098 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25384982|PMID:25741868|PMID:28492532|PMID:31785789|PMID:33004838|PMID:9326634|PMID:9536098 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:10907 microcephaly ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:1826 epilepsy ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:28960266 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:3307 teratoma ISO RGD:1320737 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1320737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1320737 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15955779|PMID:15988005|PMID:16199547|PMID:17576681|PMID:23708187|PMID:24207121|PMID:25384982|PMID:25741868|PMID:25783594|PMID:26073591|PMID:26467025|PMID:26615199|PMID:26795593|PMID:28074849|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29358611|PMID:30564305|PMID:31273778|PMID:31332282|PMID:31618753|PMID:31677157|PMID:31785789|PMID:33004838|PMID:33584793|PMID:8232556|PMID:9326634|PMID:9536098|PMID:9565609 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320737 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320737 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:28960266 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1320737 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:9006257 Growth Disorders ISO RGD:1320737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 8897402 Chd2 chromodomain helicase DNA binding protein 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1320737 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:23708187|PMID:24207121|PMID:24614520|PMID:25326635|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:30525188|PMID:31618753|PMID:31677157|PMID:34713950 8897445 Hao1 hydroxyacid oxidase 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1353845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 8897445 Hao1 hydroxyacid oxidase 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1353845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 8897445 Hao1 hydroxyacid oxidase 1 gene DOID:585 nephrolithiasis ISO RGD:1353845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 8897445 Hao1 hydroxyacid oxidase 1 gene DOID:630 genetic disease ISO RGD:1353845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897445 Hao1 hydroxyacid oxidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8897445 Hao1 hydroxyacid oxidase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8897445 Hao1 hydroxyacid oxidase 1 gene DOID:9003698 ALAGILLE SYNDROME 1 ISO RGD:1353845 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 8897463 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:733152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8897463 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:733152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8897463 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:733152 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8897463 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:733152 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8897463 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:10908 hydrocephalus ISO RGD:733153 D RGD:9068941 20200609 RGD PMID:15037549|REF_RGD_ID:1300301 8897463 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:12849 autistic disorder ISO RGD:733152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8897463 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:630 genetic disease ISO RGD:733152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897463 Llgl1 LLGL scribble cell polarity complex component 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8897489 Nt5c 5', 3'-nucleotidase, cytosolic gene DOID:630 genetic disease ISO RGD:1353894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897489 Nt5c 5', 3'-nucleotidase, cytosolic gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 8897517 Ptp4a1 protein tyrosine phosphatase 4A1 gene DOID:630 genetic disease ISO RGD:1352872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897542 Mogat3 monoacylglycerol O-acyltransferase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8897542 Mogat3 monoacylglycerol O-acyltransferase 3 gene DOID:630 genetic disease ISO RGD:1350436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897542 Mogat3 monoacylglycerol O-acyltransferase 3 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1350436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 8897565 Gtsf1l gametocyte specific factor 1 like gene DOID:2234 focal epilepsy ISO RGD:1314719 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8897565 Gtsf1l gametocyte specific factor 1 like gene DOID:630 genetic disease ISO RGD:1314719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897565 Gtsf1l gametocyte specific factor 1 like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1314719 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8897573 Fbxl14 F-box and leucine rich repeat protein 14 gene DOID:630 genetic disease ISO RGD:1313599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897573 Fbxl14 F-box and leucine rich repeat protein 14 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1313599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8897578 Slc27a1 solute carrier family 27 member 1 gene DOID:10603 glucose intolerance ISO RGD:620927 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle PMID:15281014|REF_RGD_ID:1642794 8897578 Slc27a1 solute carrier family 27 member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:620927 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle PMID:15281014|REF_RGD_ID:1642794 8897578 Slc27a1 solute carrier family 27 member 1 gene DOID:2018 hyperinsulinism ISO RGD:620927 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle PMID:15281014|REF_RGD_ID:1642794 8897578 Slc27a1 solute carrier family 27 member 1 gene DOID:5844 myocardial infarction ISO RGD:620927 D RGD:9068941 20200609 RGD protein:decreased expression:infarcted heart PMID:17034771|REF_RGD_ID:1642800 8897578 Slc27a1 solute carrier family 27 member 1 gene DOID:630 genetic disease ISO RGD:1604940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897578 Slc27a1 solute carrier family 27 member 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1553168 D RGD:9068941 20200609 RGD DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome PMID:16611988|REF_RGD_ID:1642790 8897578 Slc27a1 solute carrier family 27 member 1 gene DOID:9007692 Insulin Resistance ISO RGD:620927 D RGD:9068941 20200609 RGD protein::heart:basal level increased but unresponsive to insulin on a high cholesterol, high fructose diet PMID:17400720|REF_RGD_ID:1642795 8897578 Slc27a1 solute carrier family 27 member 1 gene DOID:9970 obesity ISO RGD:620927 D RGD:9068941 20200609 RGD protein:increased expression:soleus muscle, protein:decreased expression:gastrocnemius muscle PMID:15281014|REF_RGD_ID:1642794 8897578 Slc27a1 solute carrier family 27 member 1 gene DOID:9970 obesity susceptibility ISO RGD:1553168 D RGD:9068941 20200609 RGD DNA:gene knockout::Slc27a1-/- mice resistant to diet-induced obesity and metabolic syndrome PMID:16611988|REF_RGD_ID:1642790 8897593 Gpr26 G protein-coupled receptor 26 gene DOID:10283 prostate cancer ISO RGD:736769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8897593 Gpr26 G protein-coupled receptor 26 gene DOID:630 genetic disease ISO RGD:736769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897615 Rpusd4 RNA pseudouridine synthase D4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8897615 Rpusd4 RNA pseudouridine synthase D4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8897615 Rpusd4 RNA pseudouridine synthase D4 gene DOID:5419 schizophrenia ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8897615 Rpusd4 RNA pseudouridine synthase D4 gene DOID:630 genetic disease ISO RGD:1345355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897615 Rpusd4 RNA pseudouridine synthase D4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8897615 Rpusd4 RNA pseudouridine synthase D4 gene DOID:9007661 Dwarfism ISO RGD:1345355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313212 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19940503|REF_RGD_ID:4145359 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma ISO RGD:1313213 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19635592|REF_RGD_ID:4145360 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma disease_progression ISO RGD:1313212 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:17339047|REF_RGD_ID:4145380 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma no_association ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNPs:introns,exon:7575G>A, 11188A>T, 12433T>C (human) PMID:16893396|REF_RGD_ID:4145382 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18778489|REF_RGD_ID:4145378 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:2841 asthma susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M764T (human) PMID:17961406|REF_RGD_ID:4145379 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:19284602|REF_RGD_ID:4145361 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:20156753|REF_RGD_ID:4145358 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:20003279|REF_RGD_ID:4145357 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313212 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:4483 rhinitis susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15298558|PMID:18778489|REF_RGD_ID:4145378|REF_RGD_ID:4145383 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:630 genetic disease ISO RGD:1313212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1313212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17061022 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1313212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1313212 D RGD:9068941 20200609 RGD DNA:SNP: :rs2787094 c.2891G>C (human) PMID:19258923|REF_RGD_ID:4142862 8897634 Adam33 ADAM metallopeptidase domain 33 gene DOID:9008939 Breast Neoplasms ISO RGD:1313212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30226539 8897662 Ppp6r3 protein phosphatase 6 regulatory subunit 3 gene DOID:1059 intellectual disability ISO RGD:1316164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8897662 Ppp6r3 protein phosphatase 6 regulatory subunit 3 gene DOID:630 genetic disease ISO RGD:1316164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897662 Ppp6r3 protein phosphatase 6 regulatory subunit 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316164 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8897662 Ppp6r3 protein phosphatase 6 regulatory subunit 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8897703 Astn2 astrotactin 2 gene DOID:0110133 Bardet-Biedl syndrome 11 ISO RGD:1314130 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:19492423|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29921608|PMID:30823891|PMID:31624253|PMID:33296226|PMID:4269389 8897703 Astn2 astrotactin 2 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1314130 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:23541687|PMID:25351777|PMID:25741868|PMID:28492532|PMID:29921608|PMID:32721234|PMID:33485293 8897703 Astn2 astrotactin 2 gene DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ISO RGD:1314130 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sarcotubular myopathy | ClinVar Annotator: match by term: TRIM32-related condition PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:19492423|PMID:21775502|PMID:22025579|PMID:22626039|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:29921608|PMID:30564623|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 8897703 Astn2 astrotactin 2 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1314130 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:24033266|PMID:28492532|PMID:30823891|PMID:35055178 8897703 Astn2 astrotactin 2 gene DOID:12783 migraine without aura ISO RGD:1314130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 8897703 Astn2 astrotactin 2 gene DOID:12849 autistic disorder ISO RGD:1314130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8897703 Astn2 astrotactin 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314130 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22626039|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:28812413|PMID:29921608|PMID:30564623|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 8897703 Astn2 astrotactin 2 gene DOID:423 myopathy ISO RGD:1314130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22981120|PMID:23142638|PMID:25741868|PMID:28492532|PMID:4269389 8897703 Astn2 astrotactin 2 gene DOID:5419 schizophrenia ISO RGD:1314130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8897703 Astn2 astrotactin 2 gene DOID:630 genetic disease ISO RGD:1314130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8897703 Astn2 astrotactin 2 gene DOID:670 amphetamine abuse ISO RGD:1314130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8897703 Astn2 astrotactin 2 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1314130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8897742 Ppil2 peptidylprolyl isomerase like 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1319848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 8897742 Ppil2 peptidylprolyl isomerase like 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1319848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8897742 Ppil2 peptidylprolyl isomerase like 2 gene DOID:630 genetic disease ISO RGD:1319848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897770 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1321529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8897770 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1321529 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:29924900 8897770 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:12930 dilated cardiomyopathy ISO RGD:1321529 D RGD:9068941 20200609 RGD PMID:10600520|REF_RGD_ID:1581297 8897770 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:2377 multiple sclerosis ISO RGD:1321529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25853421 8897770 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:289 endometriosis ISO RGD:1321529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8897770 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:5419 schizophrenia ISO RGD:1321529 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8897770 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:62 aortic valve disease ISO RGD:1321530 D RGD:9068941 20220825 MouseDO 8897770 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:630 genetic disease ISO RGD:1321529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8897770 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:7148 rheumatoid arthritis ISO RGD:1321529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 8897770 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:9006275 Adams-Oliver Syndrome 3 ISO RGD:1321529 D RGD:7240710 20180130 OMIM 8897770 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:9006275 Adams-Oliver Syndrome 3 ISO RGD:1321529 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 3 PMID:22883147|PMID:25741868|PMID:28492532|PMID:29924900 8897770 Rbpj recombination signal binding protein for immunoglobulin kappa J region gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:29924900 8897790 Gab3 GRB2 associated binding protein 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1353554 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8897790 Gab3 GRB2 associated binding protein 3 gene DOID:0050476 Barth syndrome ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8897790 Gab3 GRB2 associated binding protein 3 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8897790 Gab3 GRB2 associated binding protein 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1353554 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8897790 Gab3 GRB2 associated binding protein 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8897790 Gab3 GRB2 associated binding protein 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8897790 Gab3 GRB2 associated binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1353554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8897790 Gab3 GRB2 associated binding protein 3 gene DOID:13628 favism ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8897790 Gab3 GRB2 associated binding protein 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1353554 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8897790 Gab3 GRB2 associated binding protein 3 gene DOID:607 paraplegia ISO RGD:1353554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8897790 Gab3 GRB2 associated binding protein 3 gene DOID:630 genetic disease ISO RGD:1353554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897790 Gab3 GRB2 associated binding protein 3 gene DOID:9002720 Splenomegaly ISO RGD:1353554 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8897814 Srrm1 serine and arginine repetitive matrix 1 gene DOID:11714 gestational diabetes ISO RGD:1322619 D RGD:9068941 20200609 RGD protein:increased glycation:placenta (human) PMID:24308201|REF_RGD_ID:11038724 8897814 Srrm1 serine and arginine repetitive matrix 1 gene DOID:630 genetic disease ISO RGD:1322619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897861 Tdrd5 tudor domain containing 5 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8897861 Tdrd5 tudor domain containing 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8897861 Tdrd5 tudor domain containing 5 gene DOID:630 genetic disease ISO RGD:1316056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897861 Tdrd5 tudor domain containing 5 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8897861 Tdrd5 tudor domain containing 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8897883 Tmem168 transmembrane protein 168 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8897883 Tmem168 transmembrane protein 168 gene DOID:5419 schizophrenia ISO RGD:1605052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8897883 Tmem168 transmembrane protein 168 gene DOID:630 genetic disease ISO RGD:1605052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897883 Tmem168 transmembrane protein 168 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8897895 Papss1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 gene DOID:0080600 COVID-19 ISO RGD:1317646 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8897895 Papss1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 gene DOID:630 genetic disease ISO RGD:1317646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897919 Sema6c semaphorin 6C gene DOID:0111940 immunodeficiency 42 ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8897919 Sema6c semaphorin 6C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8897919 Sema6c semaphorin 6C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8897919 Sema6c semaphorin 6C gene DOID:1540 parathyroid carcinoma ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8897919 Sema6c semaphorin 6C gene DOID:5812 MHC class II deficiency ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8897919 Sema6c semaphorin 6C gene DOID:630 genetic disease ISO RGD:732717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897919 Sema6c semaphorin 6C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8897941 Ubxn6 UBX domain protein 6 gene DOID:13938 amenorrhea ISO RGD:1347744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8897941 Ubxn6 UBX domain protein 6 gene DOID:630 genetic disease ISO RGD:1347744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897962 Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1605707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 8897962 Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:2717 Bloom syndrome ISO RGD:1605707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8897962 Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:630 genetic disease ISO RGD:1605707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8897962 Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1605707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:25741868 8897962 Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 gene DOID:9256 colorectal cancer ISO RGD:1605707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:0050690 brachyolmia ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25669657 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:0080001 bone disease ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19344874 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ISO RGD:736405 D RGD:7240710 20180130 OMIM 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ISO RGD:736405 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta PMID:11790802|PMID:16199547|PMID:17576681|PMID:19213025|PMID:19344874|PMID:25640679|PMID:25669657|PMID:25741868|PMID:25899461|PMID:28492532|PMID:29625025|PMID:30887145|PMID:33082559|PMID:34906192|PMID:35998423|PMID:9536098 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:0111727 geleophysic dysplasia 3 ISO RGD:736405 D RGD:7240710 20190315 OMIM 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:0111727 geleophysic dysplasia 3 ISO RGD:736405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 3 PMID:25741868|PMID:27068007|PMID:28492532|PMID:30887145|PMID:33082559 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:1059 intellectual disability ISO RGD:736405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:13714 anodontia ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19344874|PMID:25899461 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:2187 amelogenesis imperfecta ISO RGD:736405 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:35998423 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:2746 glycogen storage disease V ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:3070 high grade glioma ISO RGD:736405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:4254 osteosclerosis ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11790802|PMID:12379497 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:4667 kyphosis ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11790802 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:630 genetic disease ISO RGD:736405 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:8398 osteoarthritis ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11790802|PMID:12379497 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:736405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease PMID:25741868|PMID:29625025 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:736405 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9006257 Growth Disorders ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19344874|PMID:25899461 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:736405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11790802|PMID:12379497 8898016 Ltbp3 latent transforming growth factor beta binding protein 3 gene DOID:988 mitral valve prolapse ISO RGD:736405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25899461 8898049 Fbxl7 F-box and leucine rich repeat protein 7 gene DOID:630 genetic disease ISO RGD:1314074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898049 Fbxl7 F-box and leucine rich repeat protein 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8898080 Rspo1 R-spondin 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8898080 Rspo1 R-spondin 1 gene DOID:4001 ovarian carcinoma ISO RGD:1603515 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 8898080 Rspo1 R-spondin 1 gene DOID:630 genetic disease ISO RGD:1603515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898080 Rspo1 R-spondin 1 gene DOID:9001360 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal ISO RGD:1603515 D RGD:7240710 20180130 OMIM 8898080 Rspo1 R-spondin 1 gene DOID:9001360 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal ISO RGD:1603515 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal PMID:16158431|PMID:17041600|PMID:25741868|PMID:28492532 8898080 Rspo1 R-spondin 1 gene DOID:9004267 Palmoplantar Hyperkeratosis and True Hermaphroditism ISO RGD:1603515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism PMID:18085567 8898092 Atosb atos homolog B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8898092 Atosb atos homolog B gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1322605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8898092 Atosb atos homolog B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1322605 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8898092 Atosb atos homolog B gene DOID:0080942 anauxetic dysplasia ISO RGD:1322605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8898092 Atosb atos homolog B gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1322605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8898092 Atosb atos homolog B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8898092 Atosb atos homolog B gene DOID:630 genetic disease ISO RGD:1322605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898092 Atosb atos homolog B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322605 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8898092 Atosb atos homolog B gene DOID:9870 galactosemia ISO RGD:1322605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8898119 Efcab14 EF-hand calcium binding domain 14 gene DOID:630 genetic disease ISO RGD:1605111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898142 Patj PATJ crumbs cell polarity complex component gene DOID:1059 intellectual disability ISO RGD:1604056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8898142 Patj PATJ crumbs cell polarity complex component gene DOID:303 substance-related disorder ISO RGD:1604056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8898142 Patj PATJ crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:1604056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898142 Patj PATJ crumbs cell polarity complex component gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8898200 Cfap46 cilia and flagella associated protein 46 gene DOID:0050545 visceral heterotaxy ISO RGD:1350822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 8898200 Cfap46 cilia and flagella associated protein 46 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1350822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8898200 Cfap46 cilia and flagella associated protein 46 gene DOID:630 genetic disease ISO RGD:1350822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898200 Cfap46 cilia and flagella associated protein 46 gene DOID:758 situs inversus ISO RGD:1350822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 8898264 Ptpn23 protein tyrosine phosphatase non-receptor type 23 gene DOID:630 genetic disease ISO RGD:1348801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31395947 8898264 Ptpn23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1348801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8898264 Ptpn23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348801 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:31395947 8898264 Ptpn23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9005433 NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY ISO RGD:1348801 D RGD:7240710 20200812 OMIM 8898264 Ptpn23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9005433 NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY ISO RGD:1348801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity PMID:25558065|PMID:25741868|PMID:27848944|PMID:28492532|PMID:29090338|PMID:29899372|PMID:31395947 8898264 Ptpn23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1348801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:28492532 8898264 Ptpn23 protein tyrosine phosphatase non-receptor type 23 gene DOID:9008086 Developmental Disabilities ISO RGD:1348801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:28492532|PMID:31395947 8898293 Disp1 dispatched RND transporter family member 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1317002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8898293 Disp1 dispatched RND transporter family member 1 gene DOID:0110876 holoprosencephaly 7 ISO RGD:1317002 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:25741868 8898293 Disp1 dispatched RND transporter family member 1 gene DOID:10485 esophageal atresia ISO RGD:1317002 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Esophageal atresia PMID:25741868 8898293 Disp1 dispatched RND transporter family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1317002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8898293 Disp1 dispatched RND transporter family member 1 gene DOID:4621 holoprosencephaly ISO RGD:1317002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly PMID:25741868|PMID:28492532|PMID:28640243 8898293 Disp1 dispatched RND transporter family member 1 gene DOID:630 genetic disease ISO RGD:1317002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8898293 Disp1 dispatched RND transporter family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8898335 CUNH8orf82 chromosome unknown C8orf82 homolog gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1606363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 8898335 CUNH8orf82 chromosome unknown C8orf82 homolog gene DOID:630 genetic disease ISO RGD:1606363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:0050457 Sertoli cell-only syndrome ISO RGD:732432 D RGD:9068941 20220825 MouseDO OMIM:305700 | OMIM:400042 8898363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8898363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:4989 pancreatitis ISO RGD:736958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16822955 8898363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:5419 schizophrenia ISO RGD:736958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8898363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:630 genetic disease ISO RGD:736958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8898363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:9455 lipid storage disease ISO RGD:736958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 8898363 Nupr1 nuclear protein 1, transcriptional regulator gene DOID:9775 diastolic heart failure ISO RGD:736958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8898370 Fndc10 fibronectin type III domain containing 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8898370 Fndc10 fibronectin type III domain containing 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:6480141 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8898370 Fndc10 fibronectin type III domain containing 10 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8898370 Fndc10 fibronectin type III domain containing 10 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8898370 Fndc10 fibronectin type III domain containing 10 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8898370 Fndc10 fibronectin type III domain containing 10 gene DOID:0110994 Joubert syndrome 25 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8898370 Fndc10 fibronectin type III domain containing 10 gene DOID:0111934 immunodeficiency 38 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8898370 Fndc10 fibronectin type III domain containing 10 gene DOID:0111935 immunodeficiency 16 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8898370 Fndc10 fibronectin type III domain containing 10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8898370 Fndc10 fibronectin type III domain containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8898370 Fndc10 fibronectin type III domain containing 10 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:6480141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8898370 Fndc10 fibronectin type III domain containing 10 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:6480141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:0060041 autism spectrum disorder ISO RGD:11070 D RGD:9068941 20220825 MouseDO 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:0060230 basal ganglia calcification ISO RGD:11070 D RGD:9068941 20220825 MouseDO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:0080109 infantile myofibromatosis ISO RGD:732897 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile PMID:12181311|PMID:15054839|PMID:16199547|PMID:17576681|PMID:23731537|PMID:23731542|PMID:25292412|PMID:25741868|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28417142|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31017643|PMID:31474318|PMID:9536098 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:0080855 Parkinsonism ISO RGD:732897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:0111344 myeloproliferative disorder with eosinophilia ISO RGD:732897 D RGD:7240710 20180130 OMIM 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:0111344 myeloproliferative disorder with eosinophilia ISO RGD:732897 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia PMID:25454926|PMID:25741868|PMID:26455322|PMID:28492532|PMID:29226947 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:10283 prostate cancer ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:17854058|REF_RGD_ID:2292228 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:10763 hypertension ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:1657776|REF_RGD_ID:11080972 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:10763 hypertension ISO RGD:3285 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:glomerulus PMID:12047046|REF_RGD_ID:2292214 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:732897 D RGD:9068941 20200609 RGD PMID:22773904|REF_RGD_ID:10053644 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:10907 microcephaly ISO RGD:732897 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:10908 hydrocephalus ISO RGD:732897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:12181311|PMID:25292412|PMID:25741868|PMID:28334876|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:11446 sciatic neuropathy ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:19909480|REF_RGD_ID:11080976 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:12215 oligohydramnios ISO RGD:3285 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:17519529|REF_RGD_ID:2292203 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:18466260|REF_RGD_ID:10449503 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:1612 breast cancer ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17390053|REF_RGD_ID:2292174 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:182 calcinosis ISO RGD:732897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:1936 atherosclerosis treatment ISO RGD:11070 D RGD:9068941 20200609 RGD PMID:11413086|REF_RGD_ID:10449506 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:1969 cerebral palsy ISO RGD:732897 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:24796542|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34494111 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:2226 myeloproliferative neoplasm ISO RGD:11070 D RGD:9068941 20220825 MouseDO 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:2226 myeloproliferative neoplasm ISO RGD:732897 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:12181402|REF_RGD_ID:10450606 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:2696 Leydig cell tumor ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:testis, leydig cell PMID:11994382|REF_RGD_ID:2298579 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:2785 Dandy-Walker syndrome ISO RGD:732897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:12181311|PMID:25292412|PMID:25741868|PMID:28334876|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:3068 glioblastoma treatment ISO RGD:732897 D RGD:9068941 20200609 RGD PMID:24566984|REF_RGD_ID:13702903 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:3459 breast carcinoma disease_progression ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:16741576|REF_RGD_ID:2292178 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:16917016|REF_RGD_ID:11084934 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:3594 choriocarcinoma ISO RGD:732897 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cytotrophoblast cell PMID:8504434|REF_RGD_ID:2292200 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:4450 renal cell carcinoma ISO RGD:732897 D RGD:9068941 20200609 RGD PMID:15994946|REF_RGD_ID:2292198 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:4450 renal cell carcinoma ISO RGD:732897 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:16865223|REF_RGD_ID:2290496 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:5419 schizophrenia ISO RGD:11070 D RGD:9068941 20220825 MouseDO OMIM:181500 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:630 genetic disease ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12181311|PMID:25292412|PMID:25356970|PMID:25741868|PMID:28166811|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:679 basal ganglia disease ISO RGD:732897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:8946 severe nonproliferative diabetic retinopathy ISO RGD:11070 D RGD:9068941 20220825 MouseDO 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000099 Experimental Colitis treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:24115822|REF_RGD_ID:11080973 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000438 Subarachnoid Hemorrhage ameliorates ISO RGD:3285 D RGD:9068941 20210402 RGD PMID:29480757|REF_RGD_ID:125093745 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000858 Idiopathic Basal Ganglia Calcification 4 ISO RGD:732897 D RGD:7240710 20180130 OMIM 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000858 Idiopathic Basal Ganglia Calcification 4 ISO RGD:732897 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 PMID:15054839|PMID:16199547|PMID:17576681|PMID:20301594|PMID:23255827|PMID:23731537|PMID:23731542|PMID:24796542|PMID:25741868|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28417142|PMID:28492532|PMID:31064749|PMID:34494111|PMID:9536098 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:732897 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell PMID:15994946|REF_RGD_ID:2292198 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:732897 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: : PMID:14593398|REF_RGD_ID:13703041 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9000998 Brain Injuries ISO RGD:3285 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, hippocampus PMID:9645955|REF_RGD_ID:11084932 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:15077122|REF_RGD_ID:2292206 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15623374|PMID:18466260 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:18466260|REF_RGD_ID:10449503 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9001600 Wounds and Injuries ISO RGD:3285 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12533868|REF_RGD_ID:2292211 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:11889420|REF_RGD_ID:11080974 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:732897 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent PMID:15067514|REF_RGD_ID:2311646 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002509 Kosaki Overgrowth Syndrome ISO RGD:732897 D RGD:7240710 20180130 OMIM 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002509 Kosaki Overgrowth Syndrome ISO RGD:732897 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Kosaki overgrowth syndrome | ClinVar Annotator: match by term: SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION PMID:12181311|PMID:15054839|PMID:16199547|PMID:17576681|PMID:23731537|PMID:23731542|PMID:25292412|PMID:25454926|PMID:25741868|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28417142|PMID:28492532|PMID:28639748|PMID:29226947|PMID:30941910|PMID:31004414|PMID:31474318|PMID:9536098 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002514 Neointima treatment ISO RGD:3285 D RGD:9068941 20200609 RGD associated with Carotid Artery Injuries PMID:9323080|REF_RGD_ID:11087557 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002762 Ovarian Neoplasms ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15791568|REF_RGD_ID:2298578 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:16042218|REF_RGD_ID:11080975 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9002928 Colonic Neoplasms ISO RGD:11070 D RGD:9068941 20200609 RGD PMID:17050049|REF_RGD_ID:2292176 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9003936 Cardiomegaly ISO RGD:3285 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:heart PMID:11973598|REF_RGD_ID:2292215 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004241 Infantile Myofibromatosis 1 ISO RGD:732897 D RGD:7240710 20180130 OMIM 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004241 Infantile Myofibromatosis 1 ISO RGD:732897 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 PMID:12181311|PMID:15054839|PMID:23731537|PMID:23731542|PMID:25292412|PMID:25741868|PMID:26455322|PMID:28183292|PMID:28334876|PMID:28492532|PMID:28639748|PMID:30941910|PMID:31004414|PMID:31474318 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732897 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15791568|REF_RGD_ID:2298578 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004283 Transplant Rejection ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:10458478|REF_RGD_ID:1625382 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004860 Penttinen-Aula Syndrome ISO RGD:732897 D RGD:7240710 20180130 OMIM 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9004860 Penttinen-Aula Syndrome ISO RGD:732897 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type PMID:15054839|PMID:16199547|PMID:17576681|PMID:23720404|PMID:23731537|PMID:23731542|PMID:25741868|PMID:26279204|PMID:26455322|PMID:28166811|PMID:28183292|PMID:28334876|PMID:28417142|PMID:28492532|PMID:31017643|PMID:9056558|PMID:9536098 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9005147 Hydatidiform Mole ISO RGD:732897 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cytotrophoblast cell PMID:8504434|REF_RGD_ID:2292200 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9005172 Lung Neoplasms ISO RGD:11070 D RGD:9068941 20200609 RGD PMID:17050049|REF_RGD_ID:2292176 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:10982551|REF_RGD_ID:10449504 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3285 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:10802145|REF_RGD_ID:2311654 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3285 D RGD:9068941 20200609 RGD PMID:12819032|REF_RGD_ID:1580850 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3285 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10550325|REF_RGD_ID:8554477 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9007480 Hyperoxia ISO RGD:3285 D RGD:9068941 20200609 RGD protein:increased expression:vascular associated smooth muscle cell PMID:15722379|REF_RGD_ID:1580851 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:732897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 PMID:25741868|PMID:28492532 8898374 Pdgfrb platelet derived growth factor receptor beta gene DOID:9008939 Breast Neoplasms ISO RGD:11070 D RGD:9068941 20200609 RGD PMID:17050049|REF_RGD_ID:2292176 8898410 Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:0080600 COVID-19 ISO RGD:1344691 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8898410 Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:630 genetic disease ISO RGD:1344691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898410 Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:1344691 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 8898410 Enpp3 ectonucleotide pyrophosphatase/phosphodiesterase 3 gene DOID:9278 hyperargininemia ISO RGD:1344691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginase deficiency PMID:28492532 8898445 Sh3glb1 SH3 domain containing GRB2 like, endophilin B1 gene DOID:630 genetic disease ISO RGD:1312539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898471 LOC102022042 chromosome unknown open reading frame, human C1orf216 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8898471 LOC102022042 chromosome unknown open reading frame, human C1orf216 gene DOID:630 genetic disease ISO RGD:1602984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898484 Rnaseh2a ribonuclease H2 subunit A gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:17846997|PMID:20131292|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25604658|PMID:25741868|PMID:26182405|PMID:27943079|PMID:28492532|PMID:31130681 8898484 Rnaseh2a ribonuclease H2 subunit A gene DOID:0050990 episodic ataxia type 2 ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8898484 Rnaseh2a ribonuclease H2 subunit A gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1316328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8898484 Rnaseh2a ribonuclease H2 subunit A gene DOID:0111254 glutaric acidemia I ISO RGD:1316328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8898484 Rnaseh2a ribonuclease H2 subunit A gene DOID:3413 alpha-mannosidosis ISO RGD:1316328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8898484 Rnaseh2a ribonuclease H2 subunit A gene DOID:3910 lung adenocarcinoma ISO RGD:1316328 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34254728 8898484 Rnaseh2a ribonuclease H2 subunit A gene DOID:630 genetic disease ISO RGD:1316328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24300241|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28600779|PMID:29239743|PMID:31130284 8898484 Rnaseh2a ribonuclease H2 subunit A gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1316328 D RGD:7240710 20180130 OMIM 8898484 Rnaseh2a ribonuclease H2 subunit A gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1316328 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition PMID:15870678|PMID:16199547|PMID:16845400|PMID:17576681|PMID:17846997|PMID:20131292|PMID:21177858|PMID:21454563|PMID:23592335|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25274781|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26182405|PMID:26467025|PMID:27943079|PMID:28492532|PMID:28600779|PMID:29239743|PMID:31130284|PMID:31130681|PMID:31529068|PMID:9536098 8898501 Prrc2b proline rich coiled-coil 2B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346299 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8898501 Prrc2b proline rich coiled-coil 2B gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1346299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 8898501 Prrc2b proline rich coiled-coil 2B gene DOID:630 genetic disease ISO RGD:1346299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898550 Fcmr Fc mu receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8898550 Fcmr Fc mu receptor gene DOID:0080600 COVID-19 ISO RGD:1603318 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 8898550 Fcmr Fc mu receptor gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8898550 Fcmr Fc mu receptor gene DOID:12849 autistic disorder ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8898550 Fcmr Fc mu receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8898550 Fcmr Fc mu receptor gene DOID:630 genetic disease ISO RGD:1603318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898550 Fcmr Fc mu receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8898550 Fcmr Fc mu receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8898550 Fcmr Fc mu receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1346235 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1346235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:1059 intellectual disability ISO RGD:1346235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1346235 D RGD:9068941 20230413 RGD DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human) PMID:23286482|REF_RGD_ID:243065234 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1346235 D RGD:9068941 20230420 RGD DNA:repeats: : PMID:21499900|REF_RGD_ID:268530901 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:1682 congenital heart disease ISO RGD:1346235 D RGD:9068941 20230420 RGD DNA:polymorphism: : PMID:28829497|REF_RGD_ID:266231212 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:1712 aortic valve stenosis severity ISO RGD:1346235 D RGD:9068941 20230420 RGD PMID:23578508|REF_RGD_ID:267010069 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:557 kidney disease treatment ISO RGD:2319357 D RGD:9068941 20230427 RGD associated with Postoperative Complications PMID:23535151|REF_RGD_ID:7247439 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:630 genetic disease ISO RGD:1346235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1346235 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:8398 osteoarthritis treatment ISO RGD:2319357 D RGD:9068941 20230427 RGD PMID:34738623|REF_RGD_ID:329328930 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:8445 intestinal volvulus ISO RGD:1346235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1346235 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1557692 D RGD:9068941 20230420 RGD mRNA,protein:increased expression:liver: PMID:36092961|REF_RGD_ID:268357360 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2319357 D RGD:9068941 20230427 RGD protein:increased expression:nucleus PMID:26481166|REF_RGD_ID:329337345 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:2319357 D RGD:9068941 20230427 RGD PMID:31399090|REF_RGD_ID:329328926 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:9005968 Neuralgia ISO RGD:2319357 D RGD:9068941 20230427 RGD PMID:23386250|REF_RGD_ID:329337338 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1346235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8898569 Nfatc1 nuclear factor of activated T cells 1 gene DOID:9650 pathologic nystagmus ISO RGD:1346235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 8898603 Plod3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:1459 hypothyroidism ISO RGD:631339 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple organs PMID:15817667|REF_RGD_ID:2314536 8898603 Plod3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8898603 Plod3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:630 genetic disease ISO RGD:1346467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8898603 Plod3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1346467 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (human) PMID:29059470|REF_RGD_ID:155791679 8898603 Plod3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1553789 D RGD:9068941 20230105 RGD PMID:29059470|REF_RGD_ID:155791679 8898603 Plod3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1346467 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:25741868|PMID:28492532 8898603 Plod3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:9004209 Bone Fragility with Contractures, Arterial Rupture, and Deafness ISO RGD:1346467 D RGD:7240710 20180130 OMIM 8898603 Plod3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:9004209 Bone Fragility with Contractures, Arterial Rupture, and Deafness ISO RGD:1346467 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness | ClinVar Annotator: match by term: PLOD3-Related Disorder | ClinVar Annotator: match by term: PLOD3-related condition PMID:18834968|PMID:25741868|PMID:28492532|PMID:30089812|PMID:30237576 8898603 Plod3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1346467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 8898630 Rapgef1 Rap guanine nucleotide exchange factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8898630 Rapgef1 Rap guanine nucleotide exchange factor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:731405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8898630 Rapgef1 Rap guanine nucleotide exchange factor 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:619793 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:18784646|REF_RGD_ID:11534983 8898630 Rapgef1 Rap guanine nucleotide exchange factor 1 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:619793 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus PMID:20725139|REF_RGD_ID:11534982 8898630 Rapgef1 Rap guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:731405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898630 Rapgef1 Rap guanine nucleotide exchange factor 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:731405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 8898669 Calcb calcitonin related polypeptide beta gene DOID:1059 intellectual disability ISO RGD:1350431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8898669 Calcb calcitonin related polypeptide beta gene DOID:630 genetic disease ISO RGD:1350431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898669 Calcb calcitonin related polypeptide beta gene DOID:6364 migraine ISO RGD:1350431 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 8898684 C2cd2l C2CD2 like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8898684 C2cd2l C2CD2 like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8898684 C2cd2l C2CD2 like gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 8898684 C2cd2l C2CD2 like gene DOID:0080690 RASopathy ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 8898684 C2cd2l C2CD2 like gene DOID:0110651 long QT syndrome 10 ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8898684 C2cd2l C2CD2 like gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 8898684 C2cd2l C2CD2 like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8898684 C2cd2l C2CD2 like gene DOID:0111971 immunodeficiency 18 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8898684 C2cd2l C2CD2 like gene DOID:0111972 immunodeficiency 19 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8898684 C2cd2l C2CD2 like gene DOID:0111973 immunodeficiency 17 ISO RGD:1321089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8898684 C2cd2l C2CD2 like gene DOID:5419 schizophrenia ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8898684 C2cd2l C2CD2 like gene DOID:630 genetic disease ISO RGD:1321089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898684 C2cd2l C2CD2 like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8898684 C2cd2l C2CD2 like gene DOID:9007661 Dwarfism ISO RGD:1321089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8898706 Tpm3 tropomyosin 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8898706 Tpm3 tropomyosin 3 gene DOID:0080102 congenital myopathy 4A ISO RGD:1605427 D RGD:7240710 20200619 OMIM 8898706 Tpm3 tropomyosin 3 gene DOID:0080102 congenital myopathy 4A ISO RGD:1605427 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10619715|PMID:12163190|PMID:1221488|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:20951040|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24033266|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:27858751|PMID:28492532|PMID:30768849|PMID:35688744|PMID:35741838|PMID:35796944 8898706 Tpm3 tropomyosin 3 gene DOID:0110926 nemaline myopathy 1 ISO RGD:1605427 D RGD:7240710 20180130 OMIM 8898706 Tpm3 tropomyosin 3 gene DOID:0110926 nemaline myopathy 1 ISO RGD:1605427 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cap myopathy 1 | ClinVar Annotator: match by term: Congenital myopathy 4B, autosomal recessive | ClinVar Annotator: match by term: Nemaline myopathy 1 | ClinVar Annotator: match by term: Nemaline myopathy 1, autosomal dominant or recessive PMID:10587521|PMID:10619715|PMID:11106625|PMID:11964245|PMID:12163017|PMID:12163190|PMID:12196661|PMID:1221488|PMID:12467750|PMID:15562513|PMID:16199547|PMID:17376686|PMID:17576681|PMID:18300303|PMID:18382475|PMID:18716557|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20012312|PMID:20179953|PMID:20301436|PMID:20301465|PMID:20554445|PMID:20951040|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24033266|PMID:24095155|PMID:24239060|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25326635|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:27858751|PMID:28492532|PMID:30768849|PMID:32797717|PMID:32860008|PMID:33084218|PMID:33124102|PMID:33435938|PMID:35688744|PMID:35741838|PMID:7663526|PMID:7704029|PMID:9536098 8898706 Tpm3 tropomyosin 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8898706 Tpm3 tropomyosin 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8898706 Tpm3 tropomyosin 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605427 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8898706 Tpm3 tropomyosin 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8898706 Tpm3 tropomyosin 3 gene DOID:299 adenocarcinoma ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8898706 Tpm3 tropomyosin 3 gene DOID:305 carcinoma ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8898706 Tpm3 tropomyosin 3 gene DOID:3191 nemaline myopathy ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 8898706 Tpm3 tropomyosin 3 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1605427 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 8898706 Tpm3 tropomyosin 3 gene DOID:422 congenital structural myopathy ISO RGD:1605427 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:10619715|PMID:12163190|PMID:1221488|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:20951040|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:26467025|PMID:27363342|PMID:27854218|PMID:27858751|PMID:28492532|PMID:35688744|PMID:35741838 8898706 Tpm3 tropomyosin 3 gene DOID:423 myopathy ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 8898706 Tpm3 tropomyosin 3 gene DOID:5812 MHC class II deficiency ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8898706 Tpm3 tropomyosin 3 gene DOID:630 genetic disease ISO RGD:1605427 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12163190|PMID:12467750|PMID:17376686|PMID:18300303|PMID:19487656|PMID:19553118|PMID:19953533|PMID:20179953|PMID:20301436|PMID:20554445|PMID:21357678|PMID:22749829|PMID:22798622|PMID:23886664|PMID:24095155|PMID:24507666|PMID:24642510|PMID:24692096|PMID:25741868|PMID:26307083|PMID:27363342|PMID:28492532 8898706 Tpm3 tropomyosin 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8898706 Tpm3 tropomyosin 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8898706 Tpm3 tropomyosin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8898706 Tpm3 tropomyosin 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19369484 8898706 Tpm3 tropomyosin 3 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 8898706 Tpm3 tropomyosin 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1605427 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 8898706 Tpm3 tropomyosin 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8898757 Insl6 insulin like 6 gene DOID:0060652 familial erythrocytosis 1 ISO RGD:737125 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8898757 Insl6 insulin like 6 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:737125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8898757 Insl6 insulin like 6 gene DOID:0070004 myeloid neoplasm ISO RGD:737125 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17267906|PMID:17989398|PMID:18256599|PMID:18394554|PMID:18805579|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:19470474|PMID:20339092|PMID:20585391|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22368270|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:22955920|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8898757 Insl6 insulin like 6 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:737125 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8898757 Insl6 insulin like 6 gene DOID:11512 Budd-Chiari syndrome ISO RGD:737125 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Budd-Chiari syndrome PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8898757 Insl6 insulin like 6 gene DOID:3948 adrenocortical carcinoma ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 8898757 Insl6 insulin like 6 gene DOID:4971 myelofibrosis ISO RGD:737125 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Myelofibrosis, somatic PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8898757 Insl6 insulin like 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8898757 Insl6 insulin like 6 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8898757 Insl6 insulin like 6 gene DOID:630 genetic disease ISO RGD:737125 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8898757 Insl6 insulin like 6 gene DOID:8432 polycythemia ISO RGD:737125 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8898757 Insl6 insulin like 6 gene DOID:8552 chronic myeloid leukemia ISO RGD:737125 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8898757 Insl6 insulin like 6 gene DOID:8997 polycythemia vera ISO RGD:737125 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8898757 Insl6 insulin like 6 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:737125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:18805579|PMID:19470474|PMID:20585391|PMID:22368270|PMID:22955920 8898757 Insl6 insulin like 6 gene DOID:9002720 Splenomegaly ISO RGD:737125 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8898757 Insl6 insulin like 6 gene DOID:9004276 Thrombocythemia 3 ISO RGD:737125 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3 PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:30811597|PMID:32581362 8898757 Insl6 insulin like 6 gene DOID:9119 acute myeloid leukemia ISO RGD:737125 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic PMID:15781101|PMID:15793561|PMID:15837627|PMID:15858187|PMID:15920007|PMID:16081687|PMID:16247455|PMID:16293597|PMID:16325696|PMID:16603627|PMID:16707754|PMID:16709929|PMID:16762626|PMID:17989398|PMID:18256599|PMID:18394554|PMID:19036091|PMID:19074595|PMID:19287384|PMID:19293426|PMID:20339092|PMID:20631743|PMID:20703299|PMID:21120162|PMID:21689158|PMID:22041374|PMID:22397670|PMID:22422826|PMID:22571758|PMID:22818858|PMID:22829971|PMID:23115274|PMID:23535062|PMID:24404189|PMID:24728327|PMID:24986690|PMID:25043017|PMID:25157968|PMID:25671252|PMID:25741868|PMID:28492532|PMID:32581362 8898763 Rb1cc1 RB1 inducible coiled-coil 1 gene DOID:12849 autistic disorder ISO RGD:1319644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8898763 Rb1cc1 RB1 inducible coiled-coil 1 gene DOID:1612 breast cancer ISO RGD:1319644 D RGD:7240710 20180711 OMIM 8898763 Rb1cc1 RB1 inducible coiled-coil 1 gene DOID:3458 breast adenocarcinoma ISO RGD:1319644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma PMID:12068296 8898763 Rb1cc1 RB1 inducible coiled-coil 1 gene DOID:5419 schizophrenia ISO RGD:1319644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8898763 Rb1cc1 RB1 inducible coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1319644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898763 Rb1cc1 RB1 inducible coiled-coil 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8898763 Rb1cc1 RB1 inducible coiled-coil 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1319644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 8898798 Frk fyn related Src family tyrosine kinase gene DOID:0060163 body dysmorphic disorder ISO RGD:734122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8898798 Frk fyn related Src family tyrosine kinase gene DOID:10603 glucose intolerance ISO RGD:734122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17179392 8898798 Frk fyn related Src family tyrosine kinase gene DOID:2907 Goldenhar syndrome ISO RGD:734122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldenhar syndrome 8898798 Frk fyn related Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:734122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898820 Lalba lactalbumin alpha gene DOID:219 colon cancer onset ISO RGD:10853 D RGD:9068941 20200911 RGD PMID:25036966|REF_RGD_ID:38599174 8898820 Lalba lactalbumin alpha gene DOID:2326 gastroenteritis ISO RGD:737361 D RGD:9068941 20200911 RGD protein:decreased expression:serum (human) PMID:1327323|REF_RGD_ID:38599173 8898820 Lalba lactalbumin alpha gene DOID:630 genetic disease ISO RGD:737361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898835 Pex19 peroxisomal biogenesis factor 19 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 8898835 Pex19 peroxisomal biogenesis factor 19 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1315796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20683989 8898835 Pex19 peroxisomal biogenesis factor 19 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1315796 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:28492532 8898835 Pex19 peroxisomal biogenesis factor 19 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1315796 D RGD:7240710 20180130 OMIM 8898835 Pex19 peroxisomal biogenesis factor 19 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1315796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:10051604|PMID:16199547|PMID:17576681|PMID:20683989|PMID:21031596|PMID:25741868|PMID:28281558|PMID:28492532|PMID:30561787|PMID:33798445|PMID:9536098 8898835 Pex19 peroxisomal biogenesis factor 19 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8898835 Pex19 peroxisomal biogenesis factor 19 gene DOID:1540 parathyroid carcinoma ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8898835 Pex19 peroxisomal biogenesis factor 19 gene DOID:630 genetic disease ISO RGD:1315796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8898835 Pex19 peroxisomal biogenesis factor 19 gene DOID:905 Zellweger syndrome ISO RGD:1315796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10051604 8898835 Pex19 peroxisomal biogenesis factor 19 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8898850 Mterf2 mitochondrial transcription termination factor 2 gene DOID:0080600 COVID-19 ISO RGD:1604591 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8898850 Mterf2 mitochondrial transcription termination factor 2 gene DOID:630 genetic disease ISO RGD:1604591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898858 Tbxt T-box transcription factor T gene DOID:0080074 neural tube defect ISO RGD:1320869 D RGD:7240710 20240320 OMIM 8898858 Tbxt T-box transcription factor T gene DOID:0080074 neural tube defect ISO RGD:1320869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:10332959|PMID:10817656|PMID:12116228|PMID:15449172|PMID:25741868|PMID:8733136 8898858 Tbxt T-box transcription factor T gene DOID:0081205 autosomal recessive intellectual developmental disorder 40 ISO RGD:1320869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 40 PMID:25741868 8898858 Tbxt T-box transcription factor T gene DOID:3302 chordoma ISO RGD:1320869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19801981|PMID:23064415 8898858 Tbxt T-box transcription factor T gene DOID:630 genetic disease ISO RGD:1320869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898858 Tbxt T-box transcription factor T gene DOID:9004975 Sacral Agenesis with Vertebral Anomalies ISO RGD:1320869 D RGD:7240710 20240320 OMIM 8898858 Tbxt T-box transcription factor T gene DOID:9004975 Sacral Agenesis with Vertebral Anomalies ISO RGD:1320869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sacral agenesis with vertebral anomalies PMID:24253444|PMID:25741868 8898883 Mrps12 mitochondrial ribosomal protein S12 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1314714 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8898883 Mrps12 mitochondrial ribosomal protein S12 gene DOID:630 genetic disease ISO RGD:1314714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898883 Mrps12 mitochondrial ribosomal protein S12 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314714 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8898889 Mtif3 mitochondrial translational initiation factor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1616704 D RGD:9068941 20240222 MouseDO 8898889 Mtif3 mitochondrial translational initiation factor 3 gene DOID:630 genetic disease ISO RGD:1604201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898904 Nsg2 neuronal vesicle trafficking associated 2 gene DOID:630 genetic disease ISO RGD:1602121 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898913 Fbxo36 F-box protein 36 gene DOID:630 genetic disease ISO RGD:1317314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8898926 Abca13 ATP binding cassette subfamily A member 13 gene DOID:3717 gastric adenocarcinoma susceptibility ISO RGD:1352197 D RGD:9068941 20220609 RGD DNA:amplification:cds: (human) PMID:27366209|REF_RGD_ID:152995256 8898926 Abca13 ATP binding cassette subfamily A member 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8898926 Abca13 ATP binding cassette subfamily A member 13 gene DOID:5419 schizophrenia ISO RGD:1352197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868 8898926 Abca13 ATP binding cassette subfamily A member 13 gene DOID:630 genetic disease ISO RGD:1352197 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8898926 Abca13 ATP binding cassette subfamily A member 13 gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:1352197 D RGD:9068941 20220609 RGD DNA:amplification:cds: (human, male) PMID:27366209|REF_RGD_ID:152995256 8898926 Abca13 ATP binding cassette subfamily A member 13 gene DOID:9000918 Disease Progression ISO RGD:1352197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8898926 Abca13 ATP binding cassette subfamily A member 13 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8898993 Kctd8 potassium channel tetramerization domain containing 8 gene DOID:630 genetic disease ISO RGD:1323784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899007 Ca11 carbonic anhydrase 11 gene DOID:0080600 COVID-19 ISO RGD:1348503 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8899007 Ca11 carbonic anhydrase 11 gene DOID:630 genetic disease ISO RGD:1348503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899021 Kgd4 alpha-ketoglutarate dehydrogenase subunit 4 gene DOID:630 genetic disease ISO RGD:1319596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899021 Kgd4 alpha-ketoglutarate dehydrogenase subunit 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8899037 Arsa arylsulfatase A gene DOID:0050952 spastic ataxia ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10477432|PMID:12809637|PMID:16678723|PMID:1671769|PMID:17560502|PMID:19815439|PMID:20339381|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:7866401 8899037 Arsa arylsulfatase A gene DOID:0060041 autism spectrum disorder ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310 8899037 Arsa arylsulfatase A gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1321256 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8899037 Arsa arylsulfatase A gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8899037 Arsa arylsulfatase A gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8899037 Arsa arylsulfatase A gene DOID:10579 leukodystrophy ISO RGD:1321256 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:10381328|PMID:14517960|PMID:1671769|PMID:20339381|PMID:23581857|PMID:25741868|PMID:28492532|PMID:7866401|PMID:8723680 8899037 Arsa arylsulfatase A gene DOID:10581 metachromatic leukodystrophy ISO RGD:1321256 D RGD:7240710 20180130 OMIM 8899037 Arsa arylsulfatase A gene DOID:10581 metachromatic leukodystrophy ISO RGD:1321256 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:31130284|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34490615|PMID:34554397|PMID:36240581|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390 8899037 Arsa arylsulfatase A gene DOID:10581 metachromatic leukodystrophy ISO RGD:1321256 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy variant | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:30834272|PMID:31069529|PMID:31130284|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390 8899037 Arsa arylsulfatase A gene DOID:1059 intellectual disability ISO RGD:1321256 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10477432|PMID:11456299|PMID:11777924|PMID:11941485|PMID:15375602|PMID:15952986|PMID:16199547|PMID:16546179|PMID:1670590|PMID:1671769|PMID:18786133|PMID:19815439|PMID:20301309|PMID:20339381|PMID:21167507|PMID:25741868|PMID:26131420|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28296894|PMID:28492532|PMID:28762252|PMID:28923328|PMID:29457794|PMID:29915382|PMID:29961769|PMID:30026549|PMID:31186049|PMID:31967741|PMID:7815434|PMID:7825603|PMID:7866401|PMID:8095918|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9600244 8899037 Arsa arylsulfatase A gene DOID:13938 amenorrhea ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8899037 Arsa arylsulfatase A gene DOID:1459 hypothyroidism ISO RGD:1310381 D RGD:9068941 20200609 RGD PMID:7901316|REF_RGD_ID:1599223 8899037 Arsa arylsulfatase A gene DOID:630 genetic disease ISO RGD:1321256 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10220151|PMID:10477432|PMID:10533072|PMID:11456299|PMID:12081727|PMID:12116203|PMID:12809637|PMID:14517960|PMID:15326627|PMID:15952986|PMID:16199547|PMID:16608548|PMID:1670590|PMID:1671769|PMID:1684088|PMID:16966551|PMID:17576681|PMID:18693274|PMID:18786133|PMID:19021637|PMID:19606494|PMID:20301309|PMID:20339381|PMID:21167507|PMID:23701968|PMID:24001781|PMID:25741868|PMID:25965562|PMID:26462614|PMID:26467025|PMID:26890752|PMID:27779215|PMID:28492532|PMID:28762252|PMID:28923328|PMID:30052522|PMID:30674982|PMID:31130284|PMID:31186049|PMID:31922725|PMID:31980526|PMID:32632536|PMID:33046606|PMID:33335837|PMID:34554397|PMID:7815434|PMID:7825603|PMID:7902317|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9536098|PMID:9600244 8899037 Arsa arylsulfatase A gene DOID:9002922 Pseudoarylsulfatase A Deficiency ISO RGD:1321256 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency PMID:15326627|PMID:15720392|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28670130|PMID:8101038 8899037 Arsa arylsulfatase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321256 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10477432|PMID:11456299|PMID:15952986|PMID:16199547|PMID:1670590|PMID:1671769|PMID:18786133|PMID:20301309|PMID:21167507|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28923328|PMID:7815434|PMID:7825603|PMID:8095918|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9600244 8899037 Arsa arylsulfatase A gene DOID:9006534 Nervous System Malformations ISO RGD:1321256 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15326627|PMID:15720392|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28670130|PMID:8101038 8899037 Arsa arylsulfatase A gene DOID:9007448 Autosomal Sideroblastic Anemia ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia PMID:25741868 8899037 Arsa arylsulfatase A gene DOID:9255 frontotemporal dementia ISO RGD:1321256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:10477432|PMID:12809637|PMID:1353340|PMID:16678723|PMID:18693274|PMID:18786133|PMID:19606494|PMID:23559313|PMID:25741868|PMID:25965562|PMID:26131420|PMID:26462614|PMID:28492532|PMID:31694723|PMID:33855715 8899037 Arsa arylsulfatase A gene DOID:9273 citrullinemia ISO RGD:1321256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:25741868|PMID:26467025|PMID:28492532 8899060 Ttll3 tubulin tyrosine ligase like 3 gene DOID:2843 long QT syndrome ISO RGD:1322614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8899060 Ttll3 tubulin tyrosine ligase like 3 gene DOID:630 genetic disease ISO RGD:1322614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899060 Ttll3 tubulin tyrosine ligase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8899060 Ttll3 tubulin tyrosine ligase like 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1322614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8899082 Ccdc88b coiled-coil domain containing 88B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8899082 Ccdc88b coiled-coil domain containing 88B gene DOID:1024 leprosy ISO RGD:1603867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25642632 8899082 Ccdc88b coiled-coil domain containing 88B gene DOID:1059 intellectual disability ISO RGD:1603867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8899082 Ccdc88b coiled-coil domain containing 88B gene DOID:3070 high grade glioma ISO RGD:1603867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8899082 Ccdc88b coiled-coil domain containing 88B gene DOID:630 genetic disease ISO RGD:1603867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899125 Mrs2 magnesium transporter MRS2 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:732788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:28492532 8899125 Mrs2 magnesium transporter MRS2 gene DOID:3213 demyelinating disease ISO RGD:708529 D RGD:9068941 20200609 RGD DNA:missense mutation:intron(rat) PMID:21253565|REF_RGD_ID:12793070 8899125 Mrs2 magnesium transporter MRS2 gene DOID:630 genetic disease ISO RGD:732788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899142 Boll boule homolog, RNA binding protein gene DOID:630 genetic disease ISO RGD:1352689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899142 Boll boule homolog, RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8899142 Boll boule homolog, RNA binding protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 8899166 Slc1a3 solute carrier family 1 member 3 gene DOID:0050952 spastic ataxia ISO RGD:732126 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532 8899166 Slc1a3 solute carrier family 1 member 3 gene DOID:0050994 episodic ataxia type 6 ISO RGD:732126 D RGD:7240710 20180130 OMIM 8899166 Slc1a3 solute carrier family 1 member 3 gene DOID:0050994 episodic ataxia type 6 ISO RGD:732126 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 6 PMID:16116111|PMID:19139306|PMID:23107647|PMID:24214974|PMID:25497598|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28472652|PMID:28492532|PMID:29062094|PMID:29208948|PMID:30257206|PMID:32741053 8899166 Slc1a3 solute carrier family 1 member 3 gene DOID:0080600 COVID-19 ISO RGD:732126 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8899166 Slc1a3 solute carrier family 1 member 3 gene DOID:12849 autistic disorder ISO RGD:732126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11706102 8899166 Slc1a3 solute carrier family 1 member 3 gene DOID:13544 low tension glaucoma ISO RGD:736549 D RGD:9068941 20220825 MouseDO OMIM:606657 8899166 Slc1a3 solute carrier family 1 member 3 gene DOID:1826 epilepsy ISO RGD:732126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 8899166 Slc1a3 solute carrier family 1 member 3 gene DOID:630 genetic disease ISO RGD:732126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 8899166 Slc1a3 solute carrier family 1 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8899166 Slc1a3 solute carrier family 1 member 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3698 D RGD:9068941 20230921 RGD PMID:23595285|REF_RGD_ID:401794586 8899166 Slc1a3 solute carrier family 1 member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8899166 Slc1a3 solute carrier family 1 member 3 gene DOID:963 episodic ataxia ISO RGD:732126 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia 8899186 Tbcel tubulin folding cofactor E like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8899186 Tbcel tubulin folding cofactor E like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8899186 Tbcel tubulin folding cofactor E like gene DOID:0080690 RASopathy ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8899186 Tbcel tubulin folding cofactor E like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8899186 Tbcel tubulin folding cofactor E like gene DOID:0111971 immunodeficiency 18 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8899186 Tbcel tubulin folding cofactor E like gene DOID:0111972 immunodeficiency 19 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8899186 Tbcel tubulin folding cofactor E like gene DOID:0111973 immunodeficiency 17 ISO RGD:1606678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8899186 Tbcel tubulin folding cofactor E like gene DOID:5419 schizophrenia ISO RGD:1606678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8899186 Tbcel tubulin folding cofactor E like gene DOID:630 genetic disease ISO RGD:1606678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899186 Tbcel tubulin folding cofactor E like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8899186 Tbcel tubulin folding cofactor E like gene DOID:9007661 Dwarfism ISO RGD:1606678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8899200 Lactbl1 lactamase beta like 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:3077861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8899223 Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1350319 D RGD:7240710 20180130 OMIM 8899223 Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1350319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive PMID:16385447|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29459493|PMID:30531807|PMID:9536098 8899223 Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1350319 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:16385447 8899223 Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1350319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8899223 Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1350319 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal PMID:22279524|PMID:25500575|PMID:28492532 8899223 Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1350319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8899243 Tmem138 transmembrane protein 138 gene DOID:0050777 Joubert syndrome ISO RGD:1604817 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:22282472|PMID:28102635|PMID:28492532 8899243 Tmem138 transmembrane protein 138 gene DOID:0050777 Joubert syndrome ISO RGD:1604817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:17576681|PMID:22282472|PMID:27081510|PMID:28102635|PMID:28492532|PMID:9536098 8899243 Tmem138 transmembrane protein 138 gene DOID:0050778 Meckel syndrome ISO RGD:1604817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 8899243 Tmem138 transmembrane protein 138 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8899243 Tmem138 transmembrane protein 138 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604817 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis 8899243 Tmem138 transmembrane protein 138 gene DOID:0110985 Joubert Syndrome 16 ISO RGD:1604817 D RGD:7240710 20180130 OMIM 8899243 Tmem138 transmembrane protein 138 gene DOID:0110985 Joubert Syndrome 16 ISO RGD:1604817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 16 PMID:17576681|PMID:22282472|PMID:25741868|PMID:26092869|PMID:26489029|PMID:27081510|PMID:27434533|PMID:28102635|PMID:28289185|PMID:28492532|PMID:32404165|PMID:9536098 8899243 Tmem138 transmembrane protein 138 gene DOID:1059 intellectual disability ISO RGD:1604817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8899243 Tmem138 transmembrane protein 138 gene DOID:630 genetic disease ISO RGD:1604817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8899261 Mfsd5 major facilitator superfamily domain containing 5 gene DOID:630 genetic disease ISO RGD:1605912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899267 Mkrn2 makorin ring finger protein 2 gene DOID:0060583 Noonan syndrome 5 ISO RGD:1321625 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 5 PMID:24033266|PMID:25741868|PMID:28492532 8899267 Mkrn2 makorin ring finger protein 2 gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:1321625 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 PMID:24033266|PMID:25741868|PMID:28492532 8899267 Mkrn2 makorin ring finger protein 2 gene DOID:0080690 RASopathy ISO RGD:1321625 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: RASopathy PMID:24033266|PMID:25741868|PMID:28492532 8899267 Mkrn2 makorin ring finger protein 2 gene DOID:630 genetic disease ISO RGD:1321625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899282 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1604813 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:25741868 8899282 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1604813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8899282 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:12271 aniridia ISO RGD:1604813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 8899282 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:630 genetic disease ISO RGD:1604813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8899282 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9001793 Generalized Epilepsy ISO RGD:1604813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8899282 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9004307 Alazami Syndrome ISO RGD:1604813 D RGD:7240710 20180130 OMIM 8899282 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9004307 Alazami Syndrome ISO RGD:1604813 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition PMID:21937992|PMID:22865833|PMID:25741868|PMID:26374271|PMID:26539891|PMID:26607181|PMID:28492532|PMID:30006060|PMID:31074943|PMID:32860008 8899282 Larp7 La ribonucleoprotein 7, transcriptional regulator gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1604813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alazami-Yuan syndrome PMID:25741868|PMID:26374271|PMID:29619239|PMID:30006060|PMID:30426380|PMID:31074943 8899302 Ccdc159 coiled-coil domain containing 159 gene DOID:0050990 episodic ataxia type 2 ISO RGD:3566767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8899302 Ccdc159 coiled-coil domain containing 159 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:3566767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8899302 Ccdc159 coiled-coil domain containing 159 gene DOID:0111254 glutaric acidemia I ISO RGD:3566767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8899302 Ccdc159 coiled-coil domain containing 159 gene DOID:3413 alpha-mannosidosis ISO RGD:3566767 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8899302 Ccdc159 coiled-coil domain containing 159 gene DOID:630 genetic disease ISO RGD:3566767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899332 Thop1 thimet oligopeptidase 1 gene DOID:630 genetic disease ISO RGD:68460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899332 Thop1 thimet oligopeptidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8899405 Foxn4 forkhead box N4 gene DOID:630 genetic disease ISO RGD:1314977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899423 Parp3 poly(ADP-ribose) polymerase family member 3 gene DOID:630 genetic disease ISO RGD:1604647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899453 Pitpnm2 phosphatidylinositol transfer protein membrane associated 2 gene DOID:630 genetic disease ISO RGD:1322017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899489 Mtus1 microtubule associated scaffold protein 1 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1343554 D RGD:9068941 20200609 RGD PMID:22153618|REF_RGD_ID:25330347 8899489 Mtus1 microtubule associated scaffold protein 1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1343554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8899489 Mtus1 microtubule associated scaffold protein 1 gene DOID:219 colon cancer ISO RGD:1343554 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colon (human) PMID:19956880|REF_RGD_ID:2317016 8899489 Mtus1 microtubule associated scaffold protein 1 gene DOID:3459 breast carcinoma ISO RGD:1343554 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:breast carcinoma (human) PMID:19794912|REF_RGD_ID:2317017 8899489 Mtus1 microtubule associated scaffold protein 1 gene DOID:4001 ovarian carcinoma ISO RGD:1343554 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovarian carcinoma (human) PMID:16270321|REF_RGD_ID:2317019 8899489 Mtus1 microtubule associated scaffold protein 1 gene DOID:4866 salivary gland adenoid cystic carcinoma disease_progression ISO RGD:1343554 D RGD:9068941 20200609 RGD PMID:25885343|REF_RGD_ID:25330345 8899489 Mtus1 microtubule associated scaffold protein 1 gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:1343554 D RGD:9068941 20200609 RGD PMID:31882471|REF_RGD_ID:25330344 8899489 Mtus1 microtubule associated scaffold protein 1 gene DOID:630 genetic disease ISO RGD:1343554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899522 Eqtn equatorin gene DOID:630 genetic disease ISO RGD:1342522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899534 Pou2f1 POU class 2 homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8899534 Pou2f1 POU class 2 homeobox 1 gene DOID:630 genetic disease ISO RGD:1344654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899534 Pou2f1 POU class 2 homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8899589 Bcat2 branched chain amino acid transaminase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:69002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8899589 Bcat2 branched chain amino acid transaminase 2 gene DOID:630 genetic disease ISO RGD:69002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8899589 Bcat2 branched chain amino acid transaminase 2 gene DOID:9000861 HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA ISO RGD:69002 D RGD:7240710 20200715 OMIM 8899589 Bcat2 branched chain amino acid transaminase 2 gene DOID:9000861 HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA ISO RGD:69002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypervalinemia and hyperleucine-isoleucinemia PMID:25653144 8899589 Bcat2 branched chain amino acid transaminase 2 gene DOID:9269 maple syrup urine disease ISO RGD:69002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14755340 8899589 Bcat2 branched chain amino acid transaminase 2 gene DOID:9269 maple syrup urine disease ISO RGD:69003 D RGD:9068941 20200609 RGD PMID:14755340|REF_RGD_ID:1300291 8899589 Bcat2 branched chain amino acid transaminase 2 gene DOID:9269 maple syrup urine disease ISO RGD:69003 D RGD:9068941 20220825 MouseDO OMIM:246900 | OMIM:248600 | OMIM:615135 8899620 Use1 unconventional SNARE in the ER 1 gene DOID:630 genetic disease ISO RGD:1603634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899639 Wnt5b Wnt family member 5B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8899639 Wnt5b Wnt family member 5B gene DOID:127 leiomyoma ISO RGD:1346792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15972578 8899639 Wnt5b Wnt family member 5B gene DOID:127 leiomyoma ISO RGD:1346792 D RGD:9068941 20200609 RGD Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs PMID:15972578|REF_RGD_ID:2298808 8899639 Wnt5b Wnt family member 5B gene DOID:630 genetic disease ISO RGD:1346792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899639 Wnt5b Wnt family member 5B gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1346792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8899639 Wnt5b Wnt family member 5B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1551592 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|REF_RGD_ID:2298863 8899639 Wnt5b Wnt family member 5B gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1551592 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:9419423|REF_RGD_ID:2298848 8899639 Wnt5b Wnt family member 5B gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8899655 Eif3h eukaryotic translation initiation factor 3 subunit H gene DOID:0080508 Cornelia de Lange syndrome 4 ISO RGD:1351668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 4 PMID:28492532 8899655 Eif3h eukaryotic translation initiation factor 3 subunit H gene DOID:10283 prostate cancer ISO RGD:1351668 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:10362802|REF_RGD_ID:2289902 8899655 Eif3h eukaryotic translation initiation factor 3 subunit H gene DOID:10283 prostate cancer disease_progression ISO RGD:1351668 D RGD:9068941 20200609 RGD DNA:amplification PMID:11733359|REF_RGD_ID:2289901 8899655 Eif3h eukaryotic translation initiation factor 3 subunit H gene DOID:10286 prostate carcinoma ISO RGD:1351668 D RGD:9068941 20200609 RGD DNA:amplification PMID:14997205|REF_RGD_ID:2289900 8899655 Eif3h eukaryotic translation initiation factor 3 subunit H gene DOID:12849 autistic disorder ISO RGD:1351668 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism 8899655 Eif3h eukaryotic translation initiation factor 3 subunit H gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1351668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8899655 Eif3h eukaryotic translation initiation factor 3 subunit H gene DOID:1612 breast cancer ISO RGD:1351668 D RGD:9068941 20200609 RGD DNA:amplification PMID:10362802|REF_RGD_ID:2289902 8899655 Eif3h eukaryotic translation initiation factor 3 subunit H gene DOID:206 hereditary multiple exostoses ISO RGD:1351668 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 8899655 Eif3h eukaryotic translation initiation factor 3 subunit H gene DOID:630 genetic disease ISO RGD:1351668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899655 Eif3h eukaryotic translation initiation factor 3 subunit H gene DOID:684 hepatocellular carcinoma ISO RGD:1351668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14578863 8899655 Eif3h eukaryotic translation initiation factor 3 subunit H gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14997205 8899655 Eif3h eukaryotic translation initiation factor 3 subunit H gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372905 8899682 Focad focadhesin gene DOID:5082 liver cirrhosis ISO RGD:1352316 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35864190 8899682 Focad focadhesin gene DOID:5419 schizophrenia ISO RGD:1352316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8899682 Focad focadhesin gene DOID:630 genetic disease ISO RGD:1352316 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8899682 Focad focadhesin gene DOID:9005712 Severe Congenital Liver Disease ISO RGD:1352316 D RGD:7240710 20220831 OMIM 8899682 Focad focadhesin gene DOID:9005712 Severe Congenital Liver Disease ISO RGD:1352316 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: FOCAD-related condition | ClinVar Annotator: match by term: Liver disease, severe congenital PMID:25741868|PMID:28492532|PMID:35864190 8899733 Smc4 structural maintenance of chromosomes 4 gene DOID:630 genetic disease ISO RGD:1315434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899772 Noc3l NOC3 like DNA replication regulator gene DOID:0080382 nephrotic syndrome type 3 ISO RGD:1316739 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 3 PMID:17086182|PMID:18975016|PMID:20591883|PMID:23595123|PMID:24130771|PMID:24247120|PMID:25741868|PMID:26668027|PMID:28492532 8899772 Noc3l NOC3 like DNA replication regulator gene DOID:1184 nephrotic syndrome ISO RGD:1316739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 8899772 Noc3l NOC3 like DNA replication regulator gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1316739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868 8899772 Noc3l NOC3 like DNA replication regulator gene DOID:630 genetic disease ISO RGD:1316739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8899797 Rnf17 ring finger protein 17 gene DOID:0050569 Seckel syndrome ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 8899797 Rnf17 ring finger protein 17 gene DOID:0070010 Seckel syndrome 4 ISO RGD:1321415 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seckel syndrome 4 PMID:18414213|PMID:20301772|PMID:20522431|PMID:24402816|PMID:25741868|PMID:26467025|PMID:28492532 8899797 Rnf17 ring finger protein 17 gene DOID:0070012 Seckel syndrome 5 ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 5 8899797 Rnf17 ring finger protein 17 gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:25741868 8899797 Rnf17 ring finger protein 17 gene DOID:0070290 primary autosomal recessive microcephaly 6 ISO RGD:1321415 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive PMID:15793586|PMID:16199547|PMID:16900296|PMID:18414213|PMID:20301772|PMID:20522431|PMID:24402816|PMID:25741868|PMID:26467025|PMID:28492532 8899797 Rnf17 ring finger protein 17 gene DOID:10907 microcephaly ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive 8899797 Rnf17 ring finger protein 17 gene DOID:630 genetic disease ISO RGD:1321415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 8899797 Rnf17 ring finger protein 17 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8899838 Nrm nurim gene DOID:11372 megacolon ISO RGD:1352240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8899838 Nrm nurim gene DOID:630 genetic disease ISO RGD:1352240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:0050144 Kartagener syndrome ISO RGD:1348406 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:11788826|PMID:16627867|PMID:19357118|PMID:19630565|PMID:23477994|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31443223 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:0050144 Kartagener syndrome susceptibility ISO RGD:1348406 D RGD:9068941 20200609 RGD DNA:mutations PMID:11788826|REF_RGD_ID:1601080 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:0050545 visceral heterotaxy ISO RGD:1348406 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Situs ambiguus PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30290127 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1348406 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1348406 D RGD:7240710 20180130 OMIM 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1348406 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DNAH5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17534128|PMID:17576681|PMID:18492703|PMID:18950741|PMID:19357118|PMID:19630565|PMID:20301301|PMID:2127064|PMID:21270641|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25326635|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:26918822|PMID:26938784|PMID:27637300|PMID:27779714|PMID:28492532|PMID:29089047|PMID:29363216|PMID:29402277|PMID:29453417|PMID:30067075|PMID:30293990|PMID:30300419|PMID:31213628|PMID:31443223|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31772028|PMID:31879361|PMID:32357925|PMID:32367404|PMID:32502479|PMID:32502767|PMID:33574797|PMID:33589394|PMID:33635012|PMID:9536098 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:10754 otitis media ISO RGD:1558622 D RGD:9068941 20220825 MouseDO OMIM:166760 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:12336 male infertility ISO RGD:1348406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Male infertility PMID:11788826|PMID:16627867|PMID:19357118|PMID:25741868|PMID:28492532|PMID:33574797 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:2841 asthma ISO RGD:1348406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:5223 infertility ISO RGD:1348406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infertility PMID:11788826|PMID:16627867|PMID:25741868|PMID:27637300|PMID:28492532|PMID:30293990|PMID:31589614|PMID:31879361 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:630 genetic disease ISO RGD:1348406 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11788826|PMID:16199547|PMID:16627867|PMID:17576681|PMID:2127064|PMID:21270641|PMID:23261302|PMID:2389146|PMID:23891469|PMID:24033266|PMID:25741868|PMID:26373788|PMID:27637300|PMID:28492532|PMID:30067075|PMID:9536098 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1558622 D RGD:9068941 20220825 MouseDO OMIM:187500 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:758 situs inversus ISO RGD:1348406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30290127 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1348406 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17534128|PMID:17576681|PMID:18492703|PMID:18950741|PMID:19357118|PMID:19630565|PMID:19763152|PMID:20301301|PMID:20307669|PMID:2127064|PMID:21270641|PMID:22406018|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:24905662|PMID:2506606|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25326635|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:26918822|PMID:26938784|PMID:27428751|PMID:27618201|PMID:27637300|PMID:27637763|PMID:27779714|PMID:27988889|PMID:28492532|PMID:28939216|PMID:28976722|PMID:29089047|PMID:29363216|PMID:29402277|PMID:29453417|PMID:30067075|PMID:30148830|PMID:30290127|PMID:30293990|PMID:30300419|PMID:31213628|PMID:31443223|PMID:31469207|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31765523|PMID:31772028|PMID:31879361|PMID:32111882|PMID:32357925|PMID:32367404|PMID:32502479|PMID:32502767|PMID:33574797|PMID:33577779|PMID:33589394|PMID:33635012|PMID:33715250|PMID:9536098 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:9007073 Cough ISO RGD:1348406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cough PMID:25741868|PMID:28492532 8899859 Dnah5 dynein axonemal heavy chain 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348406 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17534128|PMID:17576681|PMID:18492703|PMID:18950741|PMID:19357118|PMID:19630565|PMID:19763152|PMID:20301301|PMID:20307669|PMID:2127064|PMID:21270641|PMID:22406018|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:23661805|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:24905662|PMID:2506606|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25326635|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:26918822|PMID:26938784|PMID:27428751|PMID:27618201|PMID:27637300|PMID:27637763|PMID:27779714|PMID:27988889|PMID:28492532|PMID:28939216|PMID:28976722|PMID:29089047|PMID:29363216|PMID:29402277|PMID:29453417|PMID:30067075|PMID:30148830|PMID:30290127|PMID:30293990|PMID:30300419|PMID:31213628|PMID:31443223|PMID:31469207|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31765523|PMID:31772028|PMID:31879361|PMID:32111882|PMID:32357925|PMID:32367404|PMID:32502479|PMID:32502767|PMID:32847546|PMID:33574797|PMID:33577779|PMID:33589394|PMID:33635012|PMID:33715250|PMID:9536098 8899942 Mpnd MPN domain containing gene DOID:0080600 COVID-19 ISO RGD:1605915 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8899942 Mpnd MPN domain containing gene DOID:13938 amenorrhea ISO RGD:1605915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8899942 Mpnd MPN domain containing gene DOID:630 genetic disease ISO RGD:1605915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899959 Bcas3 BCAS3 microtubule associated cell migration factor gene DOID:0070408 Hengel-Maroofian-Schols syndrome ISO RGD:1319844 D RGD:7240710 20220209 OMIM 8899959 Bcas3 BCAS3 microtubule associated cell migration factor gene DOID:0070408 Hengel-Maroofian-Schols syndrome ISO RGD:1319844 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hengel-Maroofian-Schols syndrome PMID:25741868|PMID:34022130 8899959 Bcas3 BCAS3 microtubule associated cell migration factor gene DOID:0110980 Joubert syndrome 1 ISO RGD:1319844 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8899959 Bcas3 BCAS3 microtubule associated cell migration factor gene DOID:11372 megacolon ISO RGD:1319844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8899959 Bcas3 BCAS3 microtubule associated cell migration factor gene DOID:1612 breast cancer ISO RGD:1319844 D RGD:9068941 20200609 RGD PMID:16855396|REF_RGD_ID:2317828 8899959 Bcas3 BCAS3 microtubule associated cell migration factor gene DOID:630 genetic disease ISO RGD:1319844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8899959 Bcas3 BCAS3 microtubule associated cell migration factor gene DOID:9008086 Developmental Disabilities ISO RGD:1319844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:34022130 8899990 Strip2 striatin interacting protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8899990 Strip2 striatin interacting protein 2 gene DOID:630 genetic disease ISO RGD:1344527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900018 Selenos selenoprotein S gene DOID:0050860 colorectal adenoma ISO RGD:1601754 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 8900018 Selenos selenoprotein S gene DOID:0080199 colorectal carcinoma ISO RGD:1601754 D RGD:9068941 20220407 RGD mRNA:decreased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 8900018 Selenos selenoprotein S gene DOID:3908 lung non-small cell carcinoma ISO RGD:1601754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471133 8900018 Selenos selenoprotein S gene DOID:630 genetic disease ISO RGD:1601754 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900018 Selenos selenoprotein S gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8900018 Selenos selenoprotein S gene DOID:9005372 Inflammation ISO RGD:1601754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16227999 8900043 Nfatc2ip nuclear factor of activated T cells 2 interacting protein gene DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb ISO RGD:1349771 D RGD:8554872 20231226 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 8900043 Nfatc2ip nuclear factor of activated T cells 2 interacting protein gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1349771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 8900043 Nfatc2ip nuclear factor of activated T cells 2 interacting protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1349771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8900043 Nfatc2ip nuclear factor of activated T cells 2 interacting protein gene DOID:5419 schizophrenia ISO RGD:1349771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8900043 Nfatc2ip nuclear factor of activated T cells 2 interacting protein gene DOID:630 genetic disease ISO RGD:1349771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900059 Ctdsp2 CTD small phosphatase 2 gene DOID:630 genetic disease ISO RGD:1342553 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900071 Malrd1 MAM and LDL receptor class A domain containing 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1346421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder 8900090 Anxa4 annexin A4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8900090 Anxa4 annexin A4 gene DOID:305 carcinoma ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8900090 Anxa4 annexin A4 gene DOID:4450 renal cell carcinoma ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8900090 Anxa4 annexin A4 gene DOID:630 genetic disease ISO RGD:735938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900090 Anxa4 annexin A4 gene DOID:684 hepatocellular carcinoma ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8900090 Anxa4 annexin A4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8900090 Anxa4 annexin A4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 8900090 Anxa4 annexin A4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8900090 Anxa4 annexin A4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8900090 Anxa4 annexin A4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8900090 Anxa4 annexin A4 gene DOID:9007188 Liver Neoplasms ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8900090 Anxa4 annexin A4 gene DOID:9119 acute myeloid leukemia ISO RGD:735938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ISO RGD:1312226 D RGD:7240710 20190315 OMIM 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations ISO RGD:1312226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with midbrain and hindbrain malformations PMID:25741868|PMID:28453519|PMID:28492532 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:10907 microcephaly ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:2661 myoepithelioma ISO RGD:1312226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:5812 MHC class II deficiency ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1312226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900117 Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8900184 Ccni cyclin I gene DOID:630 genetic disease ISO RGD:1319424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900195 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:0080690 RASopathy ISO RGD:1321485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8900195 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321485 D RGD:7240710 20180130 OMIM 8900195 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321485 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25693842|PMID:25741868|PMID:26544806|PMID:26637979|PMID:27625858|PMID:28492532|PMID:29193663|PMID:31915823|PMID:32964447|PMID:32979048|PMID:33594065|PMID:9536098 8900195 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:1059 intellectual disability ISO RGD:1321485 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25741868|PMID:26544806|PMID:28492532|PMID:29193663|PMID:32979048 8900195 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321485 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25741868|PMID:26544806|PMID:26637979|PMID:28492532|PMID:28832565|PMID:29193663|PMID:32979048|PMID:33594065 8900195 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:607 paraplegia ISO RGD:1321485 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25693842|PMID:25741868|PMID:26539891|PMID:26637979|PMID:26795593|PMID:27625858|PMID:28492532|PMID:29193663|PMID:31915823|PMID:32979048|PMID:33594065|PMID:9536098 8900195 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1321485 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25167861|PMID:25693842|PMID:25741868|PMID:26544806|PMID:26795593|PMID:27625858|PMID:28492532|PMID:29193663|PMID:31915823|PMID:32979048|PMID:9536098 8900195 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1321485 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:25741868|PMID:28492532 8900195 Ap4b1 adaptor related protein complex 4 subunit beta 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1321485 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21440262|PMID:21620353|PMID:22290197|PMID:24700674|PMID:24781758|PMID:25741868|PMID:28492532|PMID:29193663|PMID:32979048 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:0050685 small cell carcinoma ISO RGD:731712 D RGD:7240710 20180130 OMIM 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:0050804 glioblastoma proneural subtype ISO RGD:731712 D RGD:9068941 20200609 RGD RNA:decreased expression:brain: PMID:22157621|REF_RGD_ID:13782062 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:0050902 medulloblastoma ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868|PMID:28492532 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:731712 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:breast PMID:15312366|REF_RGD_ID:2299890 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 ISO RGD:731712 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lynch syndrome 4 PMID:12541220|PMID:14722923|PMID:15884040|PMID:16199547|PMID:16343894|PMID:17096365|PMID:28492532|PMID:34277001|PMID:7795591 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:11219 D RGD:9068941 20200609 RGD PMID:24177421|REF_RGD_ID:8547979 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25741868|PMID:28492532 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:0110705 hypotrichosis 8 ISO RGD:731712 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hypotrichosis 8 PMID:18297070|PMID:18297072|PMID:18461368|PMID:18692127|PMID:19292720|PMID:21070332|PMID:21426374|PMID:25119526|PMID:25741868|PMID:28425126|PMID:36173926 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:10283 prostate cancer ISO RGD:731712 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:18383208|REF_RGD_ID:2299887 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:1059 intellectual disability ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:11054 urinary bladder cancer ISO RGD:731712 D RGD:7240710 20180130 OMIM 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:11054 urinary bladder cancer ISO RGD:731712 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:10486322|PMID:10966849|PMID:11317357|PMID:12541220|PMID:12955724|PMID:1352883|PMID:14722923|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16449662|PMID:16463005|PMID:17096365|PMID:17576681|PMID:17960112|PMID:18503160|PMID:18677112|PMID:18682685|PMID:19280657|PMID:20041224|PMID:20059380|PMID:20808897|PMID:2181449|PMID:22219649|PMID:23532519|PMID:23981928|PMID:24225018|PMID:24688104|PMID:24791139|PMID:25157968|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25928201|PMID:25999316|PMID:2601691|PMID:26396485|PMID:26925970|PMID:27582626|PMID:28193182|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29625052|PMID:33493472|PMID:7704558|PMID:7881418|PMID:8651278|PMID:9311732|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:17026804|REF_RGD_ID:2299888 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:14566 disease of cellular proliferation ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:12173465|PMID:16463005|PMID:17096365|PMID:21763628|PMID:22963398|PMID:24688104|PMID:25157968|PMID:25602518|PMID:25741868|PMID:2594029|PMID:28492532|PMID:30031154|PMID:33456302|PMID:7704558|PMID:8346255|PMID:8605116|PMID:8651278|PMID:9400934 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:1749 squamous cell carcinoma ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:1793 pancreatic cancer ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21699781 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:2316 brain ischemia ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:2394 ovarian cancer ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:12541220|PMID:16269091|PMID:22703879|PMID:24082139|PMID:24448499|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25741868|PMID:28492532|PMID:32091409|PMID:34190019|PMID:34680218 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:2513 basal cell carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:3021 acute kidney failure ISO RGD:3540 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased phosphorylation:kidney PMID:19428114|REF_RGD_ID:8547990 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:305 carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14522882 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:3068 glioblastoma severity ISO RGD:731712 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:11204276|REF_RGD_ID:13782067 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:3181 oligodendroglioma disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:15970925|REF_RGD_ID:13782064 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:3308 embryonal carcinoma ISO RGD:731712 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:12754735|REF_RGD_ID:2299891 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:3347 osteosarcoma ISO RGD:731712 D RGD:7240710 20180130 OMIM 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:3347 osteosarcoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:3376 bone osteosarcoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:10486322|PMID:10966849|PMID:12541220|PMID:12955724|PMID:1352883|PMID:14722923|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16269091|PMID:16449662|PMID:16463005|PMID:17096365|PMID:17960112|PMID:18677112|PMID:18682685|PMID:20041224|PMID:20447117|PMID:22205104|PMID:22328814|PMID:22963398|PMID:23532519|PMID:24225018|PMID:24688104|PMID:24791139|PMID:25741868|PMID:25754945|PMID:25758528|PMID:2594029|PMID:2601691|PMID:26396485|PMID:26580448|PMID:26787237|PMID:26925970|PMID:27582626|PMID:27983729|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:29261756|PMID:30031154|PMID:32218800|PMID:33493472|PMID:34294096|PMID:7881418|PMID:9311732|PMID:9632788|PMID:9671401|PMID:9973307 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16862215 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:4440 seminoma ISO RGD:731712 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:12754735|REF_RGD_ID:2299891 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:11549509|REF_RGD_ID:2299893 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:4647 trilateral retinoblastoma ISO RGD:731712 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Trilateral retinoblastoma PMID:16463005|PMID:17096365|PMID:21763628|PMID:22963398|PMID:24688104|PMID:25157968|PMID:25602518|PMID:25741868|PMID:28492532|PMID:30031154|PMID:33456302|PMID:7704558|PMID:8346255|PMID:8605116|PMID:9400934 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:4648 familial retinoblastoma ISO RGD:731712 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary retinoblastoma PMID:10486322|PMID:10617920|PMID:10671068|PMID:11668642|PMID:12541220|PMID:15884040|PMID:16269091|PMID:17096365|PMID:17576681|PMID:18449911|PMID:18677112|PMID:22084214|PMID:25741868|PMID:25754945|PMID:28492532|PMID:7881418|PMID:8346255|PMID:8605116|PMID:8651278|PMID:9536098|PMID:9671401 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25157968|PMID:25741868|PMID:2594029|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:5411 lung oat cell carcinoma ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:31775759 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:630 genetic disease ISO RGD:731712 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:731712 D RGD:9068941 20231109 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:14961299 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3540 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:7240710 20180130 OMIM 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10882758|PMID:10966849|PMID:10991691|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11480772|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15877282|PMID:15884040|PMID:16127685|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:1662795|PMID:16988938|PMID:17096365|PMID:17299438|PMID:17301081|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19339519|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21505449|PMID:21520333|PMID:21538077|PMID:21615945|PMID:21654082|PMID:21763628|PMID:2181449|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22909775|PMID:22963398|PMID:23301675|PMID:23532519|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24336570|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24888624|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25640679|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26475597|PMID:26530098|PMID:26539030|PMID:26580448|PMID:2673542|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27854218|PMID:27879208|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28606269|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29261756|PMID:29316426|PMID:29568217|PMID:29607586|PMID:29662154|PMID:30031154|PMID:30181556|PMID:30192042|PMID:31106028|PMID:31568710|PMID:31645765|PMID:33225895|PMID:33456302|PMID:33493472|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8099255|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9639842|PMID:9671401|PMID:9973307 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10882758|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11480772|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352398|PMID:1352883|PMID:14516425|PMID:14722923|PMID:14769601|PMID:15166261|PMID:1534305|PMID:15591264|PMID:15605413|PMID:15643604|PMID:1577465|PMID:15776430|PMID:15884040|PMID:16127685|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:1662795|PMID:16988938|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19339519|PMID:19390654|PMID:19491728|PMID:19763152|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20307669|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21505449|PMID:21520333|PMID:21538077|PMID:21615945|PMID:21654082|PMID:21763628|PMID:2181449|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22406018|PMID:22703879|PMID:22744425|PMID:22909775|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24336570|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:24888624|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25640679|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:2673542|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27879208|PMID:27906792|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28606269|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33225895|PMID:33456302|PMID:33493472|PMID:33606809|PMID:34190019|PMID:34294096|PMID:34308366|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7927327|PMID:7981694|PMID:8099255|PMID:8118465|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8756645|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9495340|PMID:9536098|PMID:9632788|PMID:9639842|PMID:9671401|PMID:9973307 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:768 retinoblastoma ISO RGD:731712 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10882758|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11480772|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352398|PMID:1352883|PMID:14516425|PMID:14722923|PMID:14769601|PMID:15166261|PMID:1534305|PMID:15591264|PMID:15605413|PMID:15643604|PMID:1577465|PMID:15776430|PMID:15884040|PMID:16127685|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:1662795|PMID:16988938|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19339519|PMID:19390654|PMID:19491728|PMID:19763152|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20307669|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21505449|PMID:21520333|PMID:21538077|PMID:21615945|PMID:21654082|PMID:21763628|PMID:2181449|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22406018|PMID:22703879|PMID:22744425|PMID:22909775|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24282159|PMID:24336570|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:24888624|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25640679|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:2673542|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27854218|PMID:27879208|PMID:27906792|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28606269|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31158355|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32835838|PMID:32974172|PMID:33225895|PMID:33258708|PMID:33456302|PMID:33493472|PMID:33606809|PMID:34190019|PMID:34277001|PMID:34294096|PMID:34308366|PMID:34645364|PMID:34680218|PMID:35534704|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7927327|PMID:7981694|PMID:8049153|PMID:8099255|PMID:8118465|PMID:8217609|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8756645|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9495340|PMID:9536098|PMID:9632788|PMID:9639842|PMID:9671401|PMID:9973307 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:8541 Sezary's disease ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:8719 in situ carcinoma ISO RGD:731712 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:12754735|REF_RGD_ID:2299891 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:731712 D RGD:9068941 20200609 RGD associated with Adenocarcinoma PMID:18234283|REF_RGD_ID:2299896 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:11219 D RGD:9068941 20200609 RGD PMID:21364977|REF_RGD_ID:8547983 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14522882 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9000647 Acute Erythroleukemia ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9001083 Autosomal Recessive Woolly Hair ISO RGD:731712 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis PMID:18297072|PMID:18461368|PMID:19292720|PMID:21426374|PMID:25741868|PMID:36173926 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17854601 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27137931 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:3540 D RGD:9068941 20200609 RGD PMID:10022766|REF_RGD_ID:8547989 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:731712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian neoplasm PMID:25741868|PMID:28492532 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:17242700|REF_RGD_ID:2296051 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:11219 D RGD:9068941 20200609 RGD PMID:16510568|REF_RGD_ID:2299895 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:731712 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17047088|REF_RGD_ID:2299894 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9003936 Cardiomegaly ISO RGD:11219 D RGD:9068941 20200609 RGD PMID:18420946|REF_RGD_ID:9686423 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9004240 Phyllodes Tumor severity ISO RGD:731712 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15981808|REF_RGD_ID:2299889 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14522882 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16972022|PMID:17096365|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22963398|PMID:23532519|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26580448|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27854218|PMID:27983729|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29261756|PMID:29316426|PMID:29568217|PMID:29607586|PMID:30031154|PMID:30181556|PMID:31645765|PMID:32218800|PMID:33456302|PMID:33493472|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:34190019|PMID:34294096|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:27318443|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:33606809|PMID:34190019|PMID:34294096|PMID:34336010|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:27318443|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:33606809|PMID:34190019|PMID:34294096|PMID:34336010|PMID:34680218|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731712 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10023315|PMID:10486322|PMID:10617920|PMID:10671068|PMID:10673998|PMID:10966849|PMID:10991691|PMID:11189328|PMID:11317357|PMID:11317369|PMID:11333669|PMID:11480772|PMID:11668642|PMID:12016586|PMID:12173465|PMID:12402348|PMID:12502741|PMID:12541220|PMID:12955724|PMID:1298292|PMID:1352883|PMID:14722923|PMID:14769601|PMID:15166261|PMID:15605413|PMID:15643604|PMID:15776430|PMID:15884040|PMID:16199547|PMID:16269091|PMID:16343894|PMID:16449662|PMID:16463005|PMID:16595082|PMID:16682285|PMID:16972022|PMID:17096365|PMID:17299438|PMID:17576681|PMID:17960112|PMID:17996702|PMID:18000883|PMID:18181215|PMID:18449911|PMID:18503160|PMID:18677112|PMID:18682685|PMID:1881452|PMID:19280657|PMID:19390654|PMID:19491728|PMID:20041224|PMID:20059380|PMID:20090211|PMID:20447117|PMID:20594292|PMID:20596833|PMID:20808897|PMID:21402997|PMID:21520333|PMID:21763628|PMID:22084214|PMID:22180099|PMID:22205104|PMID:22219649|PMID:22328814|PMID:22703879|PMID:22729126|PMID:22744425|PMID:22963398|PMID:23301675|PMID:23474753|PMID:23532519|PMID:23595191|PMID:23820649|PMID:23826078|PMID:23981928|PMID:24033266|PMID:24078560|PMID:24082139|PMID:24225018|PMID:24347427|PMID:24448499|PMID:24509483|PMID:24688104|PMID:24728327|PMID:24791139|PMID:24810223|PMID:25157968|PMID:25424699|PMID:25525159|PMID:25602518|PMID:25712084|PMID:25741868|PMID:25754945|PMID:25758528|PMID:25928201|PMID:2594029|PMID:25999316|PMID:2601691|PMID:26084579|PMID:26332594|PMID:26396485|PMID:26530098|PMID:26539030|PMID:26580448|PMID:26747767|PMID:26764160|PMID:26787237|PMID:26925970|PMID:26934580|PMID:27021801|PMID:27153395|PMID:27155049|PMID:27283993|PMID:27318443|PMID:2748600|PMID:27582626|PMID:27712844|PMID:27854218|PMID:27906792|PMID:27983729|PMID:28137276|PMID:28193182|PMID:28301456|PMID:28401291|PMID:28492532|PMID:28575107|PMID:28580595|PMID:28724667|PMID:28803391|PMID:28873162|PMID:28875981|PMID:29192238|PMID:29261756|PMID:29316426|PMID:29453956|PMID:29568217|PMID:29607586|PMID:29625052|PMID:29641532|PMID:29662154|PMID:29684080|PMID:30031154|PMID:30181556|PMID:30636860|PMID:30773851|PMID:30842500|PMID:31106028|PMID:31568710|PMID:31645765|PMID:31772335|PMID:32091409|PMID:32218800|PMID:32974172|PMID:33456302|PMID:33493472|PMID:33606809|PMID:34190019|PMID:34277001|PMID:34294096|PMID:34308366|PMID:34336010|PMID:34680218|PMID:35534704|PMID:7704558|PMID:7795591|PMID:7881418|PMID:7981694|PMID:8217609|PMID:8346255|PMID:8364580|PMID:8605116|PMID:8651278|PMID:8776589|PMID:9311732|PMID:9341870|PMID:9400934|PMID:9536098|PMID:9632788|PMID:9671401|PMID:9973307 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9007692 Insulin Resistance ISO RGD:731712 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue PMID:23315497|REF_RGD_ID:8547988 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:14648178|REF_RGD_ID:2299055 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14672398|PMID:19234134|PMID:20948315 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731712 D RGD:9068941 20200609 RGD allelic loss PMID:11108660|REF_RGD_ID:2291991 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:731712 D RGD:9068941 20200609 RGD PMID:1567185|REF_RGD_ID:9698451 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:731712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10486322|PMID:10966849|PMID:12541220|PMID:1352883|PMID:15643604|PMID:16269091|PMID:16449662|PMID:17096365|PMID:18677112|PMID:18682685|PMID:20041224|PMID:23532519|PMID:24225018|PMID:24688104|PMID:25741868|PMID:26925970|PMID:28492532|PMID:28575107|PMID:28724667|PMID:28873162|PMID:7881418|PMID:9632788|PMID:9671401 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:731712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 8900219 Rb1 RB transcriptional corepressor 1 gene DOID:9970 obesity ISO RGD:731712 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue PMID:23315497|REF_RGD_ID:8547988 8900256 Ddx56 DEAD-box helicase 56 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8900256 Ddx56 DEAD-box helicase 56 gene DOID:630 genetic disease ISO RGD:1349129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900280 Rcc2 regulator of chromosome condensation 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603393 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8900280 Rcc2 regulator of chromosome condensation 2 gene DOID:10283 prostate cancer ISO RGD:1603393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8900280 Rcc2 regulator of chromosome condensation 2 gene DOID:630 genetic disease ISO RGD:1603393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:10283 prostate cancer ISO RGD:736840 D RGD:9068941 20200609 RGD PMID:18722266|REF_RGD_ID:2302865 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:62309 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:15941609|REF_RGD_ID:2302869 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:736840 D RGD:9068941 20200609 RGD PMID:7770119|REF_RGD_ID:2302735 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736840 D RGD:9068941 20200609 RGD PMID:10210891|REF_RGD_ID:2302864 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:736840 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:11853019|REF_RGD_ID:2302863 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:1682 congenital heart disease ISO RGD:62309 D RGD:9068941 20200609 RGD associated with Down Syndrome;protein:decreased expression:heart PMID:15063784|REF_RGD_ID:2302870 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:2394 ovarian cancer ISO RGD:736840 D RGD:9068941 20200609 RGD PMID:18652693|REF_RGD_ID:2302866 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:305 carcinoma ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25329396 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:5844 myocardial infarction ISO RGD:62017 D RGD:9068941 20200609 RGD protein:decreased expression:right heart ventricle, ventricular septum PMID:17089028|REF_RGD_ID:2302667 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:6000 congestive heart failure ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:630 genetic disease ISO RGD:736840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736840 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:16243812|REF_RGD_ID:2302868 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736840 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:18191186|REF_RGD_ID:2302867 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736840 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased expression: PMID:12813171|REF_RGD_ID:2302862 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8900294 Pebp1 phosphatidylethanolamine binding protein 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735912 D RGD:9068941 20220121 RGD mRNA:increased expression:lung (human) PMID:30119248|REF_RGD_ID:151347411 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050156 idiopathic pulmonary fibrosis treatment ISO RGD:2252 D RGD:9068941 20220121 RGD PMID:30119248|REF_RGD_ID:151347411 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:735912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:increased expression:mouth (human) PMID:31253192|REF_RGD_ID:151347620 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:10271 D RGD:9068941 20220121 RGD PMID:28863860|REF_RGD_ID:150519888 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:11372 megacolon ISO RGD:735912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:12351 alcoholic hepatitis disease_progression ISO RGD:10271 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (mouse) PMID:33173221|REF_RGD_ID:151347691 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:12351 alcoholic hepatitis severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (human) PMID:33173221|REF_RGD_ID:151347691 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:14018 alcoholic liver cirrhosis severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (human) PMID:33173221|REF_RGD_ID:151347691 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:1612 breast cancer ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:increased expression:breast cancer tissue (human) PMID:31578591|REF_RGD_ID:151347435 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:1793 pancreatic cancer treatment ISO RGD:10271 D RGD:9068941 20220121 RGD PMID:31310125|REF_RGD_ID:151347425 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:2394 ovarian cancer severity ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA:increased expression:ovary (human) PMID:28743276|REF_RGD_ID:151347541 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:299 adenocarcinoma ISO RGD:735912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:3070 high grade glioma severity ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:increased expression:brain (human) PMID:16652150|REF_RGD_ID:151347531 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:3347 osteosarcoma ISO RGD:735912 D RGD:9068941 20220128 RGD human cells in mouse model PMID:29039472|REF_RGD_ID:151347601 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:3347 osteosarcoma severity ISO RGD:735912 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:3459 breast carcinoma ISO RGD:10271 D RGD:9068941 20220128 RGD PMID:29483153|REF_RGD_ID:151347599 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:3459 breast carcinoma ISO RGD:3796 D RGD:9068941 20220128 RGD DDR1 acts with Syk PMID:21499918|REF_RGD_ID:151347448 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735912 D RGD:9068941 20210924 RGD PMID:17299390|REF_RGD_ID:150429714 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:decreased expression:kidney (human) PMID:31018949|REF_RGD_ID:151347528 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:kidney, lymph nodes (human) PMID:27020590|REF_RGD_ID:151347863 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:6000 congestive heart failure ISO RGD:2252 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:735912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:10271 D RGD:9068941 20220204 RGD PMID:33173221|REF_RGD_ID:151347691 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (human) PMID:33173221|REF_RGD_ID:151347691 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:8923 skin melanoma severity ISO RGD:735912 D RGD:9068941 20220204 RGD protein:increased expression:skin lesion (human) PMID:31271515|REF_RGD_ID:151347864 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:8923 skin melanoma treatment ISO RGD:735912 D RGD:9068941 20220204 RGD human cells in mouse model; DDR1-IN-1 PMID:31271515|REF_RGD_ID:151347864 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA, protein:increased expression:mouth (human) PMID:31253192|REF_RGD_ID:151347620 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:735912 D RGD:9068941 20220204 RGD mRNA:increased expression:kidney, lymph nodes (human) PMID:27020590|REF_RGD_ID:151347863 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:735912 D RGD:9068941 20220128 RGD mRNA:increased expression:ovary (human) PMID:28743276|REF_RGD_ID:151347541 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:735912 D RGD:9068941 20220128 RGD protein:increased expression:bone (human) PMID:29039472|REF_RGD_ID:151347601 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9002170 Experimental Neoplasms treatment ISO RGD:735912 D RGD:9068941 20220128 RGD human cancer cells in mouse model PMID:26719540|REF_RGD_ID:11520844 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10271 D RGD:9068941 20220128 RGD PMID:29298894|REF_RGD_ID:151347446 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10271 D RGD:9068941 20220128 RGD protein:increased expression:kidney (mouse) PMID:31383731|REF_RGD_ID:151347540 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006618 Liver Metastasis ISO RGD:10271 D RGD:9068941 20220128 RGD PMID:33110221|REF_RGD_ID:151347537 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006618 Liver Metastasis ISO RGD:10271 D RGD:9068941 20220204 RGD mRNA:increased expression:liver (mouse) PMID:30666650|REF_RGD_ID:151347840 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006618 Liver Metastasis treatment ISO RGD:735912 D RGD:9068941 20220204 RGD human cells in mouse model; nilotinib PMID:29438985|REF_RGD_ID:151347685 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:10271 D RGD:9068941 20220210 RGD PMID:32360427|REF_RGD_ID:151347874 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9009121 lung metastasis ISO RGD:10271 D RGD:9068941 20220128 RGD PMID:29483153|REF_RGD_ID:151347599 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9256 colorectal cancer ISO RGD:10271 D RGD:9068941 20220204 RGD mRNA:increased expression:colon (mouse) PMID:30666650|REF_RGD_ID:151347840 8900301 Ddr1 discoidin domain receptor tyrosine kinase 1 gene DOID:9256 colorectal cancer severity ISO RGD:735912 D RGD:9068941 20220204 RGD protein:increased expression, increased phosphorylation:tumor cells (human) PMID:29438985|REF_RGD_ID:151347685 8900337 Lmo7 LIM domain 7 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1351855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8900337 Lmo7 LIM domain 7 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1351855 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868 8900337 Lmo7 LIM domain 7 gene DOID:630 genetic disease ISO RGD:1351855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900394 Tmem126b transmembrane protein 126B gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1603632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 8900394 Tmem126b transmembrane protein 126B gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8900394 Tmem126b transmembrane protein 126B gene DOID:0112084 nuclear type mitochondrial complex I deficiency 29 ISO RGD:1603632 D RGD:7240710 20190315 OMIM 8900394 Tmem126b transmembrane protein 126B gene DOID:0112084 nuclear type mitochondrial complex I deficiency 29 ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717 8900394 Tmem126b transmembrane protein 126B gene DOID:1059 intellectual disability ISO RGD:1603632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8900394 Tmem126b transmembrane protein 126B gene DOID:630 genetic disease ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8900394 Tmem126b transmembrane protein 126B gene DOID:700 mitochondrial metabolism disease ISO RGD:1603632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:27290639|PMID:27374773|PMID:27374774|PMID:28492532|PMID:29093663|PMID:30369941|PMID:31658717 8900409 Fam50b family with sequence similarity 50 member B gene DOID:630 genetic disease ISO RGD:1352003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900429 Mtmr7 myotubularin related protein 7 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1315320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8900429 Mtmr7 myotubularin related protein 7 gene DOID:630 genetic disease ISO RGD:1315320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900429 Mtmr7 myotubularin related protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8900455 Usp39 ubiquitin specific peptidase 39 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1317682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8900455 Usp39 ubiquitin specific peptidase 39 gene DOID:630 genetic disease ISO RGD:1317682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900455 Usp39 ubiquitin specific peptidase 39 gene DOID:9002170 Experimental Neoplasms ISO RGD:1317682 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34822033 8900455 Usp39 ubiquitin specific peptidase 39 gene DOID:9002928 Colonic Neoplasms ISO RGD:1317682 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34822033 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:0080820 occupational asthma susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:SNP: : rs928976(human) PMID:24709764|REF_RGD_ID:13506912 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:0081267 graft-versus-host disease severity ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphsims: :multiple (human) PMID:12774051|REF_RGD_ID:150429809 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:10322 berylliosis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11551429|PMID:14662898|PMID:15273960|PMID:17927685|PMID:17956852|PMID:8105536 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:10608 celiac disease ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:11166 papillomavirus infectious disease susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD associated with cervical cancer;DNA:polymorphism: :HLA-DPB1*040101 (human) PMID:17349874|REF_RGD_ID:150429811 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:11335 sarcoidosis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14508706|PMID:17956852|PMID:8909942 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:1555 urticaria ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:1558 angioedema ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15784113 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2043 hepatitis B disease_progression ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:polymorphisms:3-UTR:rs9277534(human) PMID:22496224|REF_RGD_ID:14694821 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2043 hepatitis B severity ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:SNPs, haplotype:3' utr:multiple (human) PMID:26197724|REF_RGD_ID:11553629 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2043 hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:SNP: :rs9277535(human) PMID:27051043|REF_RGD_ID:14694816 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2043 hepatitis B treatment ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:SNP: :rs7770370(human) PMID:27083422|REF_RGD_ID:14694820 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:SNP, polymorphism:3' utr, :g.33087030G>A, HLA-DPB1*04:05 (rs9277534) (human) PMID:30093645|REF_RGD_ID:150429797 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2377 multiple sclerosis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2377 multiple sclerosis ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :HLA-DPB1*0501 (human) PMID:17125797|REF_RGD_ID:150429801 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphisms: :HLA-DPB1*02, HLA-DPB1*03, HLA-DPB1*04 (human) PMID:32560041|REF_RGD_ID:150429806 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2772 irritant dermatitis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2841 asthma ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16792590|PMID:17956852 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2841 asthma ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:haplotype PMID:21217921|REF_RGD_ID:5143938 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2841 asthma susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:21814517|REF_RGD_ID:13506911 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:289 endometriosis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2938 Epstein-Barr virus infectious disease susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD associated with infectious mononucleosis, Hodgkin's lymphoma;DNA:polymorphism: :HLA-DPB1*0301 (human) PMID:11401923|REF_RGD_ID:150429800 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:2957 pulmonary tuberculosis ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:18652916|REF_RGD_ID:5144001 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:21423603|REF_RGD_ID:5143980 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:322 myelitis susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :HLA-DPB1*0201 (human) PMID:22884298|REF_RGD_ID:150429795 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:409 liver disease exacerbates ISO RGD:1347386 D RGD:9068941 20211001 RGD associated with Chronic Hepatitis C;mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:28332201|REF_RGD_ID:150429805 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:4362 cervical cancer susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :HLA-DPB1*1301 (human) PMID:17349874|REF_RGD_ID:150429811 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:437 myasthenia gravis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:21569485|REF_RGD_ID:5147561 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:7148 rheumatoid arthritis ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956852|PMID:22286218 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:850 lung disease ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:21186201|REF_RGD_ID:5143998 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:8986 narcolepsy susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphisms, haplotypes: :multiple (human) PMID:25574827|REF_RGD_ID:150429810 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347386 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817570 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9004017 Chronic Hepatitis C ISO RGD:1347386 D RGD:9068941 20211001 RGD mRNA:increased expression:peripheral blood mononuclear cell(human) PMID:28332201|REF_RGD_ID:150429805 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :HLA-DPB1*04:01 (human) PMID:27601657|REF_RGD_ID:150429796 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9005236 Drug Eruptions ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9006788 Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:HLA-DPB1*0202 (human) PMID:19165231|REF_RGD_ID:5143999 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008023 Memory Disorders ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14975599 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B ISO RGD:1347386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19349983 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:1347386 D RGD:9068941 20210917 RGD DNA:SNPs:multiple (human) PMID:21274863|REF_RGD_ID:150429660 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:SNP: :rs33054861(human) PMID:27051043|REF_RGD_ID:14694816 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:SNP:exon 6: (rs9277542) (human) PMID:22737229|REF_RGD_ID:150429807 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:SNP:exon, 3' utr: (rs9277542) (human) PMID:28267888|REF_RGD_ID:14974232 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism:exon, 3' utr: (rs9277535) (human) PMID:21310144|REF_RGD_ID:150429802 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphisms, haplotypes:multiple (human) PMID:19349983|PMID:24520320|REF_RGD_ID:150429799|REF_RGD_ID:150429808 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphisms:multiple (human) PMID:26449183|REF_RGD_ID:11536957 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1347386 D RGD:9068941 20211001 RGD DNA:polymorphism: :(human) PMID:25109699|REF_RGD_ID:150429794 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9415 allergic asthma susceptibility ISO RGD:1347386 D RGD:9068941 20200609 RGD DNA:polymorphism: PMID:28380482|REF_RGD_ID:13506910 8900477 LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347386 D RGD:9068941 20200609 RGD PMID:7576003|REF_RGD_ID:6480651 8900487 Anos1 anosmin 1 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1350490 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8900487 Anos1 anosmin 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1350490 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:11297579|PMID:23643382|PMID:25636053|PMID:28492532|PMID:29758562|PMID:8504298 8900487 Anos1 anosmin 1 gene DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia ISO RGD:1350490 D RGD:7240710 20180822 OMIM 8900487 Anos1 anosmin 1 gene DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia ISO RGD:1350490 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ANOS1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia PMID:11044805|PMID:11297579|PMID:12050219|PMID:12727945|PMID:15001591|PMID:1518845|PMID:15605412|PMID:1594017|PMID:16199547|PMID:1639422|PMID:16882753|PMID:17054399|PMID:17576681|PMID:18259106|PMID:1904396|PMID:21681106|PMID:22035731|PMID:23100014|PMID:23410897|PMID:23533228|PMID:23643382|PMID:23721716|PMID:23849776|PMID:24031091|PMID:25064402|PMID:25077900|PMID:25339597|PMID:25636053|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26708526|PMID:26862482|PMID:27657687|PMID:28122887|PMID:28295047|PMID:28492532|PMID:28566479|PMID:28708303|PMID:28915117|PMID:29211946|PMID:29758562|PMID:30098700|PMID:31200363|PMID:31602316|PMID:32870266|PMID:8504298|PMID:9536098|PMID:9589672|PMID:9713559 8900487 Anos1 anosmin 1 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1350490 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:11044805|PMID:15001591|PMID:25077900|PMID:25741868 8900487 Anos1 anosmin 1 gene DOID:12849 autistic disorder ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8900487 Anos1 anosmin 1 gene DOID:13938 amenorrhea ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:27657687|PMID:28492532|PMID:32870266 8900487 Anos1 anosmin 1 gene DOID:1921 Klinefelter syndrome ISO RGD:1350490 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8900487 Anos1 anosmin 1 gene DOID:3614 Kallmann syndrome ISO RGD:1350490 D RGD:9068941 20240104 CTD CTD Direct Evidence: marker/mechanism 8900487 Anos1 anosmin 1 gene DOID:630 genetic disease ISO RGD:1350490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8900487 Anos1 anosmin 1 gene DOID:9001239 Delayed Puberty ISO RGD:1350490 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:11297579|PMID:23643382|PMID:25636053|PMID:28492532|PMID:29758562|PMID:8504298 8900487 Anos1 anosmin 1 gene DOID:9003503 Penis Agenesis ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micropenis PMID:11297579|PMID:25741868 8900487 Anos1 anosmin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8900505 Sertm1 serine rich and transmembrane domain containing 1 gene DOID:630 genetic disease ISO RGD:1601910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900526 Cdh15 cadherin 15 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1353127 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:25741868 8900526 Cdh15 cadherin 15 gene DOID:0070033 autosomal dominant intellectual developmental disorder 3 ISO RGD:1353127 D RGD:7240710 20180130 OMIM 8900526 Cdh15 cadherin 15 gene DOID:0070033 autosomal dominant intellectual developmental disorder 3 ISO RGD:1353127 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: CDH15-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 3 PMID:18414213|PMID:19012874|PMID:25741868|PMID:28492532 8900526 Cdh15 cadherin 15 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1353127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8900526 Cdh15 cadherin 15 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1353127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8900526 Cdh15 cadherin 15 gene DOID:1059 intellectual disability ISO RGD:1353127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8900526 Cdh15 cadherin 15 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8900526 Cdh15 cadherin 15 gene DOID:14780 KBG syndrome ISO RGD:1353127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 8900526 Cdh15 cadherin 15 gene DOID:630 genetic disease ISO RGD:1353127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8900526 Cdh15 cadherin 15 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1353127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8900542 Gcnt1 glucosaminyl (N-acetyl) transferase 1 gene DOID:630 genetic disease ISO RGD:1351431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900542 Gcnt1 glucosaminyl (N-acetyl) transferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8900542 Gcnt1 glucosaminyl (N-acetyl) transferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15882971 8900542 Gcnt1 glucosaminyl (N-acetyl) transferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621370 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:7560067|REF_RGD_ID:632804 8900555 Map3k21 mitogen-activated protein kinase kinase kinase 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1601734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8900555 Map3k21 mitogen-activated protein kinase kinase kinase 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8900569 Vrk2 VRK serine/threonine kinase 2 gene DOID:0111082 Fanconi anemia complementation group L ISO RGD:1323120 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group L PMID:19405097|PMID:21279724|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514 8900569 Vrk2 VRK serine/threonine kinase 2 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1323120 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:19405097|PMID:21279724|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514 8900569 Vrk2 VRK serine/threonine kinase 2 gene DOID:13636 Fanconi anemia ISO RGD:1323120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:12973351|PMID:17938197|PMID:19111657|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24389026|PMID:25741868|PMID:26149689|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514 8900569 Vrk2 VRK serine/threonine kinase 2 gene DOID:1826 epilepsy ISO RGD:1323120 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8900569 Vrk2 VRK serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1323120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900591 Pou6f1 POU class 6 homeobox 1 gene DOID:630 genetic disease ISO RGD:731653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900609 Ntpcr nucleoside-triphosphatase, cancer-related gene DOID:1540 parathyroid carcinoma ISO RGD:1604264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8900609 Ntpcr nucleoside-triphosphatase, cancer-related gene DOID:630 genetic disease ISO RGD:1604264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900609 Ntpcr nucleoside-triphosphatase, cancer-related gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8900622 Rbm26 RNA binding motif protein 26 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1317989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8900622 Rbm26 RNA binding motif protein 26 gene DOID:10327 anthracosis ISO RGD:1317989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394417 8900622 Rbm26 RNA binding motif protein 26 gene DOID:630 genetic disease ISO RGD:1317989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900689 Mcm5 minichromosome maintenance complex component 5 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1315334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8900689 Mcm5 minichromosome maintenance complex component 5 gene DOID:0080255 Meier-Gorlin syndrome 8 ISO RGD:1315334 D RGD:7240710 20190315 OMIM 8900689 Mcm5 minichromosome maintenance complex component 5 gene DOID:0080255 Meier-Gorlin syndrome 8 ISO RGD:1315334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 8 PMID:25741868|PMID:28198391|PMID:28492532 8900689 Mcm5 minichromosome maintenance complex component 5 gene DOID:1574 alcohol use disorder ISO RGD:1306616 D RGD:9068941 20200609 RGD PMID:23095216|REF_RGD_ID:10045658 8900689 Mcm5 minichromosome maintenance complex component 5 gene DOID:630 genetic disease ISO RGD:1315334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8900713 Mrpl11 mitochondrial ribosomal protein L11 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 8900713 Mrpl11 mitochondrial ribosomal protein L11 gene DOID:1059 intellectual disability ISO RGD:1347202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8900713 Mrpl11 mitochondrial ribosomal protein L11 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8900713 Mrpl11 mitochondrial ribosomal protein L11 gene DOID:2746 glycogen storage disease V ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8900713 Mrpl11 mitochondrial ribosomal protein L11 gene DOID:630 genetic disease ISO RGD:1347202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900713 Mrpl11 mitochondrial ribosomal protein L11 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1347202 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8900713 Mrpl11 mitochondrial ribosomal protein L11 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1347202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8900724 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0060417 3p deletion syndrome ISO RGD:736660 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8900724 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0110667 congenital myasthenic syndrome 5 ISO RGD:736660 D RGD:7240710 20180130 OMIM 8900724 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:0110667 congenital myasthenic syndrome 5 ISO RGD:736660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 5 PMID:10441569|PMID:10665486|PMID:11865139|PMID:14702351|PMID:15034283|PMID:15159418|PMID:15248101|PMID:16009904|PMID:16199547|PMID:17576681|PMID:18180250|PMID:18414213|PMID:18567859|PMID:20370815|PMID:214017|PMID:21952943|PMID:22088788|PMID:22490774|PMID:22678886|PMID:22759693|PMID:22960500|PMID:23108489|PMID:23371844|PMID:23553736|PMID:24033266|PMID:24281389|PMID:25557462|PMID:25741868|PMID:26467025|PMID:27830186|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29395675|PMID:30124556|PMID:31345272|PMID:32978031|PMID:33756069|PMID:34749429|PMID:34912755|PMID:8390325|PMID:9536098|PMID:9689136|PMID:9758617 8900724 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:3635 congenital myasthenic syndrome ISO RGD:736660 D RGD:8554872 20230926 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital | ClinVar Annotator: match by term: Synaptic congenital myasthenic syndrome PMID:10441569|PMID:10665486|PMID:14702351|PMID:15034283|PMID:15159418|PMID:16199547|PMID:17576681|PMID:18180250|PMID:20370815|PMID:21952943|PMID:22088788|PMID:22678886|PMID:22960500|PMID:23371844|PMID:23553736|PMID:24033266|PMID:24281389|PMID:25557462|PMID:25741868|PMID:26467025|PMID:27830186|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:30124556|PMID:32978031|PMID:33756069|PMID:34749429|PMID:34912755|PMID:8390325|PMID:9536098|PMID:9689136|PMID:9758617 8900724 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:630 genetic disease ISO RGD:736660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8900724 Colq collagen like tail subunit of asymmetric acetylcholinesterase gene DOID:856 biotinidase deficiency ISO RGD:736660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:20083419|PMID:28492532 8900748 Gnao1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23993195|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25741868|PMID:25944380|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:28817111|PMID:29390993|PMID:29761117|PMID:30682224|PMID:31406558|PMID:32581362|PMID:33298085|PMID:9536098 8900748 Gnao1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23993195|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:28817111|PMID:29390993|PMID:29761117|PMID:30682224|PMID:31406558|PMID:32581362|PMID:33298085|PMID:9536098 8900748 Gnao1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy PMID:16199547|PMID:17576681|PMID:18434540|PMID:23993195|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25590979|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28714951|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29390993|PMID:29761117|PMID:29935962|PMID:30642806|PMID:30682224|PMID:31130284|PMID:31394400|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:32898863|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480|PMID:9536098 8900748 Gnao1 G protein subunit alpha o1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:16199547|PMID:17576681|PMID:18434540|PMID:20177705|PMID:23993195|PMID:24608809|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26518167|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28714951|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29390993|PMID:29761117|PMID:29935962|PMID:30642806|PMID:30682224|PMID:30866059|PMID:31130284|PMID:31394400|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:32898863|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480|PMID:9536098 8900748 Gnao1 G protein subunit alpha o1 gene DOID:0060001 withdrawal disorder ISO RGD:731076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12199159 8900748 Gnao1 G protein subunit alpha o1 gene DOID:0080450 developmental and epileptic encephalopathy 17 ISO RGD:731076 D RGD:7240710 20180130 OMIM 8900748 Gnao1 G protein subunit alpha o1 gene DOID:0080450 developmental and epileptic encephalopathy 17 ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 17 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17 PMID:17576681|PMID:18414213|PMID:23993195|PMID:25356970|PMID:25533962|PMID:25590979|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28503590|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29761117|PMID:29935962|PMID:29961512|PMID:30642806|PMID:30682224|PMID:31130284|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:9536098 8900748 Gnao1 G protein subunit alpha o1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 8900748 Gnao1 G protein subunit alpha o1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731076 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:16199547|PMID:17576681|PMID:18434540|PMID:20177705|PMID:23993195|PMID:24608809|PMID:25356970|PMID:25363768|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26518167|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28714951|PMID:28747448|PMID:28817111|PMID:29389947|PMID:29390993|PMID:29761117|PMID:29935962|PMID:30642806|PMID:30682224|PMID:30866059|PMID:31130284|PMID:31394400|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:32898863|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480|PMID:9536098 8900748 Gnao1 G protein subunit alpha o1 gene DOID:0112276 neurodevelopmental disorder with involuntary movements ISO RGD:731076 D RGD:7240710 20190315 OMIM 8900748 Gnao1 G protein subunit alpha o1 gene DOID:0112276 neurodevelopmental disorder with involuntary movements ISO RGD:731076 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with involuntary movements PMID:23993195|PMID:25356970|PMID:25533962|PMID:25590979|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27072799|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28202424|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28668776|PMID:28688840|PMID:28747448|PMID:29389947|PMID:29761117|PMID:29935962|PMID:30642806|PMID:31130284|PMID:31406558|PMID:31737037|PMID:31780880|PMID:32581362|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616 8900748 Gnao1 G protein subunit alpha o1 gene DOID:1059 intellectual disability ISO RGD:731076 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26595808|PMID:28492532 8900748 Gnao1 G protein subunit alpha o1 gene DOID:10907 microcephaly ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:23993195|PMID:25741868|PMID:25966631|PMID:26060304|PMID:27072799|PMID:28202424|PMID:28492532|PMID:28628939|PMID:28747448 8900748 Gnao1 G protein subunit alpha o1 gene DOID:12859 choreatic disease ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choreatic disease PMID:25741868|PMID:28492532|PMID:28668776|PMID:29389947|PMID:29935962|PMID:30642806|PMID:31130284|PMID:31737037|PMID:31780880|PMID:32581362 8900748 Gnao1 G protein subunit alpha o1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731076 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy PMID:23993195|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:27068059|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28357411|PMID:28492532|PMID:28688840|PMID:32581362 8900748 Gnao1 G protein subunit alpha o1 gene DOID:1826 epilepsy ISO RGD:731076 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8900748 Gnao1 G protein subunit alpha o1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8900748 Gnao1 G protein subunit alpha o1 gene DOID:480 movement disease ISO RGD:731076 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:23993195|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:27068059|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28357411|PMID:28492532|PMID:28688840|PMID:32581362 8900748 Gnao1 G protein subunit alpha o1 gene DOID:630 genetic disease ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15313569|PMID:16199547|PMID:18434540|PMID:23993195|PMID:24700286|PMID:25356970|PMID:25533962|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26467025|PMID:26485252|PMID:26595808|PMID:26633542|PMID:26795593|PMID:27068059|PMID:27625011|PMID:27864847|PMID:27916449|PMID:28135719|PMID:28191890|PMID:28357411|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:29761117|PMID:30682224|PMID:31130284|PMID:31406558|PMID:32581362|PMID:33298085|PMID:34122306|PMID:35509770|PMID:35722775|PMID:35782616|PMID:8521505|PMID:9108480 8900748 Gnao1 G protein subunit alpha o1 gene DOID:684 hepatocellular carcinoma ISO RGD:731076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8900748 Gnao1 G protein subunit alpha o1 gene DOID:9001793 Generalized Epilepsy ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:25741868|PMID:26485252|PMID:28357411|PMID:28492532|PMID:28747448|PMID:28817111|PMID:30682224|PMID:32581362|PMID:9536098 8900748 Gnao1 G protein subunit alpha o1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8900748 Gnao1 G protein subunit alpha o1 gene DOID:9006534 Nervous System Malformations ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:23993195|PMID:25356970|PMID:25741868|PMID:25966631|PMID:26060304|PMID:26795593|PMID:27068059|PMID:27072799|PMID:28202424|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:29761117|PMID:31406558|PMID:33298085 8900748 Gnao1 G protein subunit alpha o1 gene DOID:9008086 Developmental Disabilities ISO RGD:731076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25356970|PMID:25741868|PMID:25966631|PMID:26795593|PMID:27068059|PMID:28492532|PMID:28628939|PMID:28688840|PMID:28747448|PMID:29761117|PMID:31406558|PMID:33298085 8900748 Gnao1 G protein subunit alpha o1 gene DOID:9008675 Dyskinesias ISO RGD:731076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskinesia PMID:25741868|PMID:28492532|PMID:28668776|PMID:29389947|PMID:29935962|PMID:30642806|PMID:31130284|PMID:31737037|PMID:31780880|PMID:32581362 8900778 Mme membrane metalloendopeptidase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:28492532 8900778 Mme membrane metalloendopeptidase gene DOID:0080600 COVID-19 ISO RGD:737353 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8900778 Mme membrane metalloendopeptidase gene DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ISO RGD:737353 D RGD:7240710 20190315 OMIM 8900778 Mme membrane metalloendopeptidase gene DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ISO RGD:737353 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 | ClinVar Annotator: match by term: MME-related condition PMID:15464186|PMID:16199547|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532|PMID:31673878|PMID:33144514|PMID:34758253|PMID:36517691 8900778 Mme membrane metalloendopeptidase gene DOID:0111745 cerebellar ataxia type 43 ISO RGD:737353 D RGD:7240710 20190315 OMIM 8900778 Mme membrane metalloendopeptidase gene DOID:0111745 cerebellar ataxia type 43 ISO RGD:737353 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 43 PMID:15464186|PMID:24033266|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27583304|PMID:27588448|PMID:28492532|PMID:30415211|PMID:33144514|PMID:36517691 8900778 Mme membrane metalloendopeptidase gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737353 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:35212467 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:734285 D RGD:9068941 20200609 RGD PMID:12074840|PMID:25991605|REF_RGD_ID:13801010|REF_RGD_ID:13801022 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:734285 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:9068941 20200609 RGD PMID:25884928|REF_RGD_ID:13801034 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNP: :rs6797911 (human) PMID:22493749|REF_RGD_ID:13801011 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human) PMID:15860464|REF_RGD_ID:13801021 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human) PMID:17928142|REF_RGD_ID:13801023 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs, repeat:multiple:multiple PMID:17928142|REF_RGD_ID:13801023 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs, repeats, deletion:promoter:multiple PMID:12527400|REF_RGD_ID:13801020 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22493749|REF_RGD_ID:13801011 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human) PMID:21537452|REF_RGD_ID:13801012 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease no_association ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:repeats PMID:11849775|REF_RGD_ID:1600813 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease onset ISO RGD:737353 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:rs6665 (human) PMID:28294061|REF_RGD_ID:13801009 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease severity ISO RGD:737353 D RGD:9068941 20200609 RGD PMID:19606063|REF_RGD_ID:13801019 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease treatment ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:20141738|REF_RGD_ID:13801024 8900778 Mme membrane metalloendopeptidase gene DOID:10652 Alzheimer's disease treatment ISO RGD:734285 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:25416980|REF_RGD_ID:13801033 8900778 Mme membrane metalloendopeptidase gene DOID:1074 kidney failure ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10485324 8900778 Mme membrane metalloendopeptidase gene DOID:10763 hypertension treatment ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:12011651|REF_RGD_ID:13801039 8900778 Mme membrane metalloendopeptidase gene DOID:10976 membranous glomerulonephritis ISO RGD:737353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization PMID:15464186|PMID:24033266|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532|PMID:30415211 8900778 Mme membrane metalloendopeptidase gene DOID:13250 diarrhea treatment ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:3481337|REF_RGD_ID:13801042 8900778 Mme membrane metalloendopeptidase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737353 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:27588448|PMID:28492532|PMID:33144514|PMID:36517691 8900778 Mme membrane metalloendopeptidase gene DOID:574 peripheral nervous system disease ISO RGD:737353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26991897|PMID:28492532 8900778 Mme membrane metalloendopeptidase gene DOID:6000 congestive heart failure ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:12383878|REF_RGD_ID:13801043 8900778 Mme membrane metalloendopeptidase gene DOID:630 genetic disease ISO RGD:737353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33144514 8900778 Mme membrane metalloendopeptidase gene DOID:630 genetic disease ISO RGD:737353 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:33144514|PMID:9536098 8900778 Mme membrane metalloendopeptidase gene DOID:684 hepatocellular carcinoma ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:8302012|REF_RGD_ID:13801035 8900778 Mme membrane metalloendopeptidase gene DOID:824 periodontitis ISO RGD:737353 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:28285126|REF_RGD_ID:13801025 8900778 Mme membrane metalloendopeptidase gene DOID:870 neuropathy ISO RGD:737353 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:26991897|PMID:28492532 8900778 Mme membrane metalloendopeptidase gene DOID:9000310 Lung Injury ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21114838 8900778 Mme membrane metalloendopeptidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16085334 8900778 Mme membrane metalloendopeptidase gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:8201016|REF_RGD_ID:13801045 8900778 Mme membrane metalloendopeptidase gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8900778 Mme membrane metalloendopeptidase gene DOID:9002304 Prostatic Neoplasms ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 8900778 Mme membrane metalloendopeptidase gene DOID:9002669 Hypoxia ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:11557598|REF_RGD_ID:13801041 8900778 Mme membrane metalloendopeptidase gene DOID:9002669 Hypoxia treatment ISO RGD:737353 D RGD:9068941 20200609 RGD PMID:11557598|REF_RGD_ID:13801041 8900778 Mme membrane metalloendopeptidase gene DOID:9005930 Endotoxemia severity ISO RGD:3098 D RGD:9068941 20200609 RGD PMID:11078421|REF_RGD_ID:13801040 8900778 Mme membrane metalloendopeptidase gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12928894 8900778 Mme membrane metalloendopeptidase gene DOID:9008939 Breast Neoplasms ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 8900778 Mme membrane metalloendopeptidase gene DOID:9246 cerebral amyloid angiopathy severity ISO RGD:737353 D RGD:9068941 20200609 RGD PMID:21382117|REF_RGD_ID:13801026 8900778 Mme membrane metalloendopeptidase gene DOID:9246 cerebral amyloid angiopathy severity ISO RGD:737353 D RGD:9068941 20200609 RGD associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) PMID:17021406|REF_RGD_ID:1600811 8900778 Mme membrane metalloendopeptidase gene DOID:9743 diabetic neuropathy ISO RGD:737353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20148083 8900821 Dock2 dedicator of cytokinesis 2 gene DOID:0111951 immunodeficiency 40 ISO RGD:1323174 D RGD:7240710 20180130 OMIM 8900821 Dock2 dedicator of cytokinesis 2 gene DOID:0111951 immunodeficiency 40 ISO RGD:1323174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency | ClinVar Annotator: match by term: Immunodeficiency 40 PMID:16199547|PMID:17576681|PMID:25741868|PMID:26083206|PMID:28492532|PMID:29204803|PMID:9536098 8900821 Dock2 dedicator of cytokinesis 2 gene DOID:10283 prostate cancer ISO RGD:1323174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8900821 Dock2 dedicator of cytokinesis 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1323174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 8900821 Dock2 dedicator of cytokinesis 2 gene DOID:630 genetic disease ISO RGD:1323174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8900821 Dock2 dedicator of cytokinesis 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1323174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8900877 Ect2l epithelial cell transforming 2 like gene DOID:630 genetic disease ISO RGD:1353624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900877 Ect2l epithelial cell transforming 2 like gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1353624 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8900902 Nkx3-1 NK3 homeobox 1 gene DOID:10283 prostate cancer ISO RGD:1313355 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 8900902 Nkx3-1 NK3 homeobox 1 gene DOID:13938 amenorrhea ISO RGD:1313354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8900902 Nkx3-1 NK3 homeobox 1 gene DOID:630 genetic disease ISO RGD:1313354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900902 Nkx3-1 NK3 homeobox 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313354 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:28972178|REF_RGD_ID:14401599 8900902 Nkx3-1 NK3 homeobox 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1313354 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:28972178|REF_RGD_ID:14401599 8900902 Nkx3-1 NK3 homeobox 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313354 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:16817226|PMID:17173048|PMID:17202838|PMID:22610119|PMID:32690948 8900902 Nkx3-1 NK3 homeobox 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1313354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8900909 Mknk1 MAPK interacting serine/threonine kinase 1 gene DOID:303 substance-related disorder ISO RGD:1605115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8900909 Mknk1 MAPK interacting serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1605115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900944 Plekhb2 pleckstrin homology domain containing B2 gene DOID:5419 schizophrenia ISO RGD:1322147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8900944 Plekhb2 pleckstrin homology domain containing B2 gene DOID:630 genetic disease ISO RGD:1322147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900963 Tac3 tachykinin precursor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353248 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8900963 Tac3 tachykinin precursor 3 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25636053 8900963 Tac3 tachykinin precursor 3 gene DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia ISO RGD:1353248 D RGD:7240710 20180130 OMIM 8900963 Tac3 tachykinin precursor 3 gene DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia ISO RGD:1353248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 without anosmia PMID:19079066|PMID:20332248 8900963 Tac3 tachykinin precursor 3 gene DOID:10763 hypertension ISO RGD:3809 D RGD:9068941 20200609 RGD protein:increased expression:supraoptic nucleus, medulla oblongata PMID:2478257|REF_RGD_ID:2305983 8900963 Tac3 tachykinin precursor 3 gene DOID:1924 hypogonadism ISO RGD:1353248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079066 8900963 Tac3 tachykinin precursor 3 gene DOID:5223 infertility ISO RGD:1353248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infertility PMID:25636053|PMID:28492532|PMID:29419413 8900963 Tac3 tachykinin precursor 3 gene DOID:630 genetic disease ISO RGD:1353248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900963 Tac3 tachykinin precursor 3 gene DOID:9001239 Delayed Puberty ISO RGD:1353248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053|PMID:28492532|PMID:29419413 8900974 Rab11fip5 RAB11 family interacting protein 5 gene DOID:0050473 Alstrom syndrome ISO RGD:1346029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 8900974 Rab11fip5 RAB11 family interacting protein 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1346029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8900974 Rab11fip5 RAB11 family interacting protein 5 gene DOID:0080600 COVID-19 ISO RGD:1346029 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8900974 Rab11fip5 RAB11 family interacting protein 5 gene DOID:12849 autistic disorder ISO RGD:1346029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18384058 8900974 Rab11fip5 RAB11 family interacting protein 5 gene DOID:543 dystonia ISO RGD:1346029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8900974 Rab11fip5 RAB11 family interacting protein 5 gene DOID:630 genetic disease ISO RGD:1346029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900974 Rab11fip5 RAB11 family interacting protein 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8900987 Emx1 empty spiracles homeobox 1 gene DOID:0050473 Alstrom syndrome ISO RGD:1345106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 8900987 Emx1 empty spiracles homeobox 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1345106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8900987 Emx1 empty spiracles homeobox 1 gene DOID:543 dystonia ISO RGD:1345106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8900987 Emx1 empty spiracles homeobox 1 gene DOID:630 genetic disease ISO RGD:1345106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900987 Emx1 empty spiracles homeobox 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1345106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8900997 Sardh sarcosine dehydrogenase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8900997 Sardh sarcosine dehydrogenase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8900997 Sardh sarcosine dehydrogenase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:735740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8900997 Sardh sarcosine dehydrogenase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8900997 Sardh sarcosine dehydrogenase gene DOID:0081097 Rafiq syndrome ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8900997 Sardh sarcosine dehydrogenase gene DOID:0112307 sarcosinemia ISO RGD:735740 D RGD:7240710 20180130 OMIM 8900997 Sardh sarcosine dehydrogenase gene DOID:0112307 sarcosinemia ISO RGD:735740 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY | ClinVar Annotator: match by term: Sarcosin dehydrogenase complex, deficiency of PMID:22825317|PMID:25741868|PMID:28492532 8900997 Sardh sarcosine dehydrogenase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:735740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8900997 Sardh sarcosine dehydrogenase gene DOID:3652 Leigh disease ISO RGD:735740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8900997 Sardh sarcosine dehydrogenase gene DOID:630 genetic disease ISO RGD:735740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8900997 Sardh sarcosine dehydrogenase gene DOID:684 hepatocellular carcinoma severity ISO RGD:735740 D RGD:9068941 20220616 RGD mRNA:altered expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 8900997 Sardh sarcosine dehydrogenase gene DOID:9002669 Hypoxia ISO RGD:735740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 8901025 Ddx31 DEAD-box helicase 31 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8901025 Ddx31 DEAD-box helicase 31 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1312596 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8901025 Ddx31 DEAD-box helicase 31 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8901025 Ddx31 DEAD-box helicase 31 gene DOID:0081097 Rafiq syndrome ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8901025 Ddx31 DEAD-box helicase 31 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1312596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EDS I PMID:28492532 8901025 Ddx31 DEAD-box helicase 31 gene DOID:3652 Leigh disease ISO RGD:1312596 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8901025 Ddx31 DEAD-box helicase 31 gene DOID:630 genetic disease ISO RGD:1312596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901048 Slain2 SLAIN motif family member 2 gene DOID:630 genetic disease ISO RGD:1602874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901070 Il22ra1 interleukin 22 receptor subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1352751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901070 Il22ra1 interleukin 22 receptor subunit alpha 1 gene DOID:9005941 Rhinosinusitis susceptibility ISO RGD:1352751 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human) PMID:19393422|REF_RGD_ID:5147411 8901070 Il22ra1 interleukin 22 receptor subunit alpha 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1352751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8901081 Kcnh6 potassium voltage-gated channel subfamily H member 6 gene DOID:4194 glucose metabolism disease ISO RGD:1332067 D RGD:9068941 20220825 MouseDO 8901081 Kcnh6 potassium voltage-gated channel subfamily H member 6 gene DOID:630 genetic disease ISO RGD:737542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901122 Tor2a torsin family 2 member A gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8901122 Tor2a torsin family 2 member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8901122 Tor2a torsin family 2 member A gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1345727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8901122 Tor2a torsin family 2 member A gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1345727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8901122 Tor2a torsin family 2 member A gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8901122 Tor2a torsin family 2 member A gene DOID:630 genetic disease ISO RGD:1345727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901131 Runx1 RUNX family transcription factor 1 gene DOID:0050700 cardiomyopathy ISO RGD:736526 D RGD:9068941 20200609 RGD PMID:12937148|REF_RGD_ID:1304428 8901131 Runx1 RUNX family transcription factor 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation, frameshift mutations: :multiple PMID:17910630|REF_RGD_ID:11251705 8901131 Runx1 RUNX family transcription factor 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma onset ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:amplification PMID:21822204|REF_RGD_ID:6482828 8901131 Runx1 RUNX family transcription factor 1 gene DOID:1037 lymphoid leukemia ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9539781|REF_RGD_ID:10450724 8901131 Runx1 RUNX family transcription factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736526 D RGD:9068941 20200609 RGD associated with Down Syndrome PMID:20946940|REF_RGD_ID:6482829 8901131 Runx1 RUNX family transcription factor 1 gene DOID:2841 asthma ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:21803869|REF_RGD_ID:6482835 8901131 Runx1 RUNX family transcription factor 1 gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:736526 D RGD:9068941 20200609 RGD PMID:21828118|REF_RGD_ID:11251708 8901131 Runx1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2242720, rs4816502 (human) PMID:20018071|REF_RGD_ID:6482836 8901131 Runx1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:SNP PMID:16821265|REF_RGD_ID:6482837 8901131 Runx1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:SNP: :rs2268277 (human) PMID:18087673|REF_RGD_ID:6482840 8901131 Runx1 RUNX family transcription factor 1 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:SNP:intron:24658G>C (human) PMID:18328148|REF_RGD_ID:6482839 8901131 Runx1 RUNX family transcription factor 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:736526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial platelet disorder with associated myeloid malignancy PMID:25741868|PMID:34355501 8901131 Runx1 RUNX family transcription factor 1 gene DOID:9005515 Therapy-related Acute Myeloid Leukemia ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:translocations:intron:multiple PMID:9763573|REF_RGD_ID:11251709 8901131 Runx1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:736526 D RGD:9068941 20200625 RGD PMID:11023523|REF_RGD_ID:11251692 8901131 Runx1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:frameshift mutations, missense mutations, nonsense mutations: :multiple PMID:19808697|REF_RGD_ID:11251704 8901131 Runx1 RUNX family transcription factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:736526 D RGD:9068941 20200609 RGD DNA:translocation PMID:12760263|REF_RGD_ID:6482833 8901131 Runx1 RUNX family transcription factor 1 gene DOID:9538 multiple myeloma ISO RGD:736526 D RGD:9068941 20200609 RGD mRNA:splice variant PMID:12560229|REF_RGD_ID:6482834 8901149 LOC102030025 olfactory receptor 4D2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1344303 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8901149 LOC102030025 olfactory receptor 4D2 gene DOID:1059 intellectual disability ISO RGD:1344303 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8901149 LOC102030025 olfactory receptor 4D2 gene DOID:630 genetic disease ISO RGD:1344303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901218 Zmym3 zinc finger MYM-type containing 3 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 8901218 Zmym3 zinc finger MYM-type containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8901218 Zmym3 zinc finger MYM-type containing 3 gene DOID:1059 intellectual disability ISO RGD:1350026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8901218 Zmym3 zinc finger MYM-type containing 3 gene DOID:12849 autistic disorder ISO RGD:1350026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8901218 Zmym3 zinc finger MYM-type containing 3 gene DOID:630 genetic disease ISO RGD:1350026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901218 Zmym3 zinc finger MYM-type containing 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052|PMID:29610475|PMID:29662167 8901218 Zmym3 zinc finger MYM-type containing 3 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 8901218 Zmym3 zinc finger MYM-type containing 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1350026 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24721225 8901218 Zmym3 zinc finger MYM-type containing 3 gene DOID:9008997 X-Linked Intellectual Developmental Disorder 112 ISO RGD:1350026 D RGD:7240710 20230726 OMIM 8901218 Zmym3 zinc finger MYM-type containing 3 gene DOID:9008997 X-Linked Intellectual Developmental Disorder 112 ISO RGD:1350026 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 112 | ClinVar Annotator: match by term: ZMYM3-related condition PMID:24721225|PMID:25741868|PMID:36586412 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1354294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1354294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1354294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1354294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0081097 Rafiq syndrome ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:0110980 Joubert syndrome 1 ISO RGD:1354294 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:1826 epilepsy ISO RGD:1354294 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:3652 Leigh disease ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:630 genetic disease ISO RGD:1354294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901273 Sec16a SEC16 homolog A, endoplasmic reticulum export factor gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1354294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050635 alternating hemiplegia of childhood ISO RGD:732644 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood PMID:24033266|PMID:25741868 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050835 generalized dystonia ISO RGD:732644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 12 PMID:11061257|PMID:12112218|PMID:14499619|PMID:15260953|PMID:15364580|PMID:15390049|PMID:16199547|PMID:16632466|PMID:17282997|PMID:17516473|PMID:17576681|PMID:17595045|PMID:18414213|PMID:19351654|PMID:19652145|PMID:19936820|PMID:20301294|PMID:20558373|PMID:20576601|PMID:21911500|PMID:22534615|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:23681173|PMID:24088041|PMID:24100174|PMID:24123283|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24739246|PMID:24793181|PMID:24842602|PMID:24983657|PMID:24996492|PMID:25056583|PMID:25359261|PMID:25439493|PMID:25447930|PMID:25523819|PMID:25624492|PMID:25640679|PMID:25656163|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26297560|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26990090|PMID:26993267|PMID:27146299|PMID:27268479|PMID:27549929|PMID:27626066|PMID:27634470|PMID:27726050|PMID:28214263|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29269014|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29801192|PMID:29915382|PMID:30071271|PMID:30392204|PMID:30657467|PMID:31031587|PMID:31361359|PMID:31425744|PMID:31616254|PMID:31618474|PMID:31942761|PMID:32454213|PMID:32581362|PMID:32653672|PMID:32895939|PMID:32963807|PMID:33446253|PMID:33451880|PMID:33868146|PMID:34008892|PMID:34342181|PMID:34906502|PMID:35047275|PMID:5996915|PMID:8255463|PMID:8733056|PMID:9109901|PMID:9536098 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050842 oculogyric crisis ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculogyric crisis PMID:15260953|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26633545|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:32581362 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0050888 syndromic intellectual disability ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732644 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:732644 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0070385 developmental and epileptic encephalopathy 99 ISO RGD:732644 D RGD:7240710 20211201 OMIM 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0070385 developmental and epileptic encephalopathy 99 ISO RGD:732644 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 99 PMID:15260953|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25624492|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26467025|PMID:26633545|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:32581362|PMID:32684337|PMID:33880529|PMID:5996915 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0080855 Parkinsonism ISO RGD:732644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15260953 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0090056 dystonia 12 ISO RGD:732644 D RGD:7240710 20180130 OMIM 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:0090056 dystonia 12 ISO RGD:732644 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dystonia 12 | ClinVar Annotator: match by term: Rapid-Onset Dystonia-Parkinsonism PMID:11061257|PMID:12112218|PMID:14499619|PMID:15260953|PMID:15364580|PMID:15390049|PMID:16199547|PMID:16632466|PMID:17282997|PMID:17516473|PMID:17576681|PMID:17595045|PMID:18414213|PMID:18675996|PMID:19351654|PMID:19652145|PMID:19936820|PMID:20301294|PMID:20558373|PMID:20576601|PMID:21911500|PMID:22534615|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:23681173|PMID:24100174|PMID:24123283|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24739246|PMID:24793181|PMID:24842602|PMID:24983657|PMID:24996492|PMID:25056583|PMID:25359261|PMID:25439493|PMID:25447930|PMID:25523819|PMID:25624492|PMID:25640679|PMID:25656163|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26297560|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26990090|PMID:26993267|PMID:27146299|PMID:27268479|PMID:27549929|PMID:27626066|PMID:27634470|PMID:27726050|PMID:28214263|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29269014|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29801192|PMID:29915382|PMID:30071271|PMID:30283815|PMID:30392204|PMID:30577886|PMID:30657467|PMID:31031587|PMID:31361359|PMID:31425744|PMID:31616254|PMID:31618474|PMID:31737037|PMID:31942761|PMID:32454213|PMID:32581362|PMID:32653672|PMID:32684337|PMID:32895939|PMID:32963807|PMID:33098801|PMID:33446253|PMID:33451880|PMID:33868146|PMID:33880529|PMID:34008892|PMID:34342181|PMID:34459253|PMID:34906502|PMID:35047275|PMID:35181663|PMID:36192182|PMID:36703223|PMID:5996915|PMID:8255463|PMID:8733056|PMID:9109901|PMID:9536098 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:10485 esophageal atresia ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1059 intellectual disability ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:10908 hydrocephalus ISO RGD:732644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:22842232|PMID:25741868|PMID:26297560|PMID:26410222|PMID:28492532 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:10969 hemiplegia ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24523486|PMID:24631656|PMID:24842602|PMID:24996492|PMID:25447930|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26993267|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:30657467 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:12835 quadriplegia ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Quadriparesis PMID:15260953|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26633545|PMID:28293679|PMID:28492532|PMID:32581362 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:1826 epilepsy ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24523486|PMID:24631656|PMID:24842602|PMID:24996492|PMID:25447930|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26297560|PMID:26410222|PMID:26993267|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:30392204|PMID:30657467|PMID:31031587 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:2340 craniosynostosis ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:2468 psychotic disorder ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Juvenile onset psychosis PMID:25741868|PMID:27626066 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:3312 bipolar disorder ISO RGD:10207 D RGD:9068941 20220825 MouseDO 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:3312 bipolar disorder ISO RGD:732644 D RGD:9068941 20200609 RGD PMID:9646882|REF_RGD_ID:1358437 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:5419 schizophrenia ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:543 dystonia ISO RGD:732644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:15260953|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24631656|PMID:24842602|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:26417536|PMID:26633545|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271|PMID:32581362 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:6000 congestive heart failure ISO RGD:732644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18418421 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:630 genetic disease ISO RGD:732644 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14499619|PMID:15260953|PMID:15364580|PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:24100174|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24793181|PMID:24842602|PMID:25056583|PMID:25523819|PMID:25624492|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:27268479|PMID:27634470|PMID:27726050|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:29066118|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29913018|PMID:29915382|PMID:30071271|PMID:31425744|PMID:31616254|PMID:31618474|PMID:32339621|PMID:32581362|PMID:32684337|PMID:33098801|PMID:33880529|PMID:34008892|PMID:34342181|PMID:34459253|PMID:34992632|PMID:35047275|PMID:35872528|PMID:5996915|PMID:8733056 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:8398 osteoarthritis ISO RGD:732644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9000419 Benign Familial Neonatal Seizures, 1 ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001300 Alternating Hemiplegia of Childhood 2 ISO RGD:732644 D RGD:7240710 20180130 OMIM 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001300 Alternating Hemiplegia of Childhood 2 ISO RGD:732644 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2 PMID:11061257|PMID:12112218|PMID:15260953|PMID:15390049|PMID:16199547|PMID:16632466|PMID:17282997|PMID:17516473|PMID:17576681|PMID:17595045|PMID:18414213|PMID:18675996|PMID:19652145|PMID:20301294|PMID:20576601|PMID:21911500|PMID:22534615|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:24100174|PMID:24123283|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24793181|PMID:24842602|PMID:24983657|PMID:24996492|PMID:25056583|PMID:25447930|PMID:25523819|PMID:25656163|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26297560|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26993267|PMID:27146299|PMID:27268479|PMID:27626066|PMID:27634470|PMID:27726050|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29302074|PMID:29305691|PMID:29397530|PMID:29915382|PMID:30071271|PMID:30657467|PMID:31361359|PMID:31425744|PMID:31616254|PMID:31737037|PMID:31942761|PMID:32454213|PMID:32581362|PMID:34008892|PMID:34342181|PMID:35047275|PMID:8733056|PMID:9536098 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18418421 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:732644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:32581362 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9007693 CAPOS Syndrome ISO RGD:732644 D RGD:7240710 20180130 OMIM 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9007693 CAPOS Syndrome ISO RGD:732644 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss PMID:15260953|PMID:18414213|PMID:18675996|PMID:19652145|PMID:20301294|PMID:20576601|PMID:21911500|PMID:22842232|PMID:22850527|PMID:22924536|PMID:23409136|PMID:23483595|PMID:24100174|PMID:24431296|PMID:24468074|PMID:24523486|PMID:24631656|PMID:24793181|PMID:24842602|PMID:24996492|PMID:25056583|PMID:25326637|PMID:25447930|PMID:25523819|PMID:25681536|PMID:25741868|PMID:25895915|PMID:25996915|PMID:26400718|PMID:26410222|PMID:26417536|PMID:26453127|PMID:26467025|PMID:26633545|PMID:26993267|PMID:27268479|PMID:27634470|PMID:27726050|PMID:28293679|PMID:28441826|PMID:28492532|PMID:28500446|PMID:28637637|PMID:28647130|PMID:28708303|PMID:28849312|PMID:28901192|PMID:29066118|PMID:29305691|PMID:29397530|PMID:30071271|PMID:30577886|PMID:30657467|PMID:31361359|PMID:31737037|PMID:32581362|PMID:34008892|PMID:34342181|PMID:34459253|PMID:35047275|PMID:36192182|PMID:8733056 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24631656|PMID:24842602|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9008675 Dyskinesias ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskinesia PMID:20301294|PMID:21911500|PMID:22842232|PMID:22850527|PMID:23409136|PMID:24631656|PMID:24842602|PMID:25681536|PMID:25741868|PMID:25996915|PMID:26410222|PMID:28293679|PMID:28492532|PMID:28637637|PMID:30071271 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9009131 Ventriculomegaly ISO RGD:732644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:22842232|PMID:25741868|PMID:26297560|PMID:26410222|PMID:28492532 8901313 Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 gene DOID:9269 maple syrup urine disease ISO RGD:732644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8901342 Adam2 ADAM metallopeptidase domain 2 gene DOID:10652 Alzheimer's disease ISO RGD:69085 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:10686596|REF_RGD_ID:10047127 8901342 Adam2 ADAM metallopeptidase domain 2 gene DOID:630 genetic disease ISO RGD:69085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901342 Adam2 ADAM metallopeptidase domain 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69299 D RGD:9068941 20200609 RGD PMID:11967014|REF_RGD_ID:10047130 8901371 Oscp1 organic solute carrier partner 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8901371 Oscp1 organic solute carrier partner 1 gene DOID:630 genetic disease ISO RGD:1606165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901390 Fabp4 fatty acid binding protein 4 gene DOID:10591 pre-eclampsia ISO RGD:733453 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:19573524|REF_RGD_ID:329845853 8901390 Fabp4 fatty acid binding protein 4 gene DOID:1875 impotence ISO RGD:69309 D RGD:9068941 20200609 RGD associated with hypercholesterolemia;mRNA:increased expression:penis erectile tissue PMID:17137605|REF_RGD_ID:1625408 8901390 Fabp4 fatty acid binding protein 4 gene DOID:2773 contact dermatitis ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8901390 Fabp4 fatty acid binding protein 4 gene DOID:305 carcinoma ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8901390 Fabp4 fatty acid binding protein 4 gene DOID:557 kidney disease ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30215792 8901390 Fabp4 fatty acid binding protein 4 gene DOID:630 genetic disease ISO RGD:733453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901390 Fabp4 fatty acid binding protein 4 gene DOID:767 muscular atrophy ISO RGD:69309 D RGD:9068941 20220224 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) PMID:14638460|REF_RGD_ID:151361116 8901390 Fabp4 fatty acid binding protein 4 gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:733454 D RGD:9068941 20230831 RGD PMID:28062499|REF_RGD_ID:329955458 8901390 Fabp4 fatty acid binding protein 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8901390 Fabp4 fatty acid binding protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8901390 Fabp4 fatty acid binding protein 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69309 D RGD:9068941 20200609 RGD protein:decreased expresssion:fat cell PMID:9059981|REF_RGD_ID:1625411 8901390 Fabp4 fatty acid binding protein 4 gene DOID:9006646 Metabolic Syndrome ISO RGD:733453 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16919044|REF_RGD_ID:1625406 8901390 Fabp4 fatty acid binding protein 4 gene DOID:9007692 Insulin Resistance ISO RGD:69309 D RGD:9068941 20200609 RGD PMID:17391165|REF_RGD_ID:1625407 8901390 Fabp4 fatty acid binding protein 4 gene DOID:9970 obesity ISO RGD:733454 D RGD:9068941 20200609 RGD PMID:8910278|REF_RGD_ID:737747 8901398 Rpl30 ribosomal protein L30 gene DOID:630 genetic disease ISO RGD:731558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901398 Rpl30 ribosomal protein L30 gene DOID:8566 herpes simplex ISO RGD:731558 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:ribosome PMID:7588575|REF_RGD_ID:11039399 8901407 Prkce protein kinase C epsilon gene DOID:0050700 cardiomyopathy ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15242976 8901407 Prkce protein kinase C epsilon gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 8901407 Prkce protein kinase C epsilon gene DOID:10763 hypertension ISO RGD:61925 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 8901407 Prkce protein kinase C epsilon gene DOID:303 substance-related disorder ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8901407 Prkce protein kinase C epsilon gene DOID:3883 Lynch syndrome ISO RGD:736442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8901407 Prkce protein kinase C epsilon gene DOID:4248 coronary stenosis ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782078 8901407 Prkce protein kinase C epsilon gene DOID:574 peripheral nervous system disease ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20726883 8901407 Prkce protein kinase C epsilon gene DOID:5844 myocardial infarction ISO RGD:62218 D RGD:9068941 20230202 RGD RNA:decreased expression:myocardium: PMID:28887629|REF_RGD_ID:155882580 8901407 Prkce protein kinase C epsilon gene DOID:5844 myocardial infarction ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16782078 8901407 Prkce protein kinase C epsilon gene DOID:630 genetic disease ISO RGD:736442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901407 Prkce protein kinase C epsilon gene DOID:9002165 Diabetic Nephropathies ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 8901407 Prkce protein kinase C epsilon gene DOID:9002211 Hyperalgesia ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11738263|PMID:12582831|PMID:20457222 8901407 Prkce protein kinase C epsilon gene DOID:9003936 Cardiomegaly ISO RGD:61925 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 8901407 Prkce protein kinase C epsilon gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 8901407 Prkce protein kinase C epsilon gene DOID:9007102 Myocardial Ischemia ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8901407 Prkce protein kinase C epsilon gene DOID:9007188 Liver Neoplasms ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8901407 Prkce protein kinase C epsilon gene DOID:9008443 Colorectal Neoplasms ISO RGD:736442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7705931 8901407 Prkce protein kinase C epsilon gene DOID:9352 type 2 diabetes mellitus ISO RGD:61925 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:26398746|REF_RGD_ID:13506804 8901449 Parp14 poly(ADP-ribose) polymerase family member 14 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8901449 Parp14 poly(ADP-ribose) polymerase family member 14 gene DOID:630 genetic disease ISO RGD:1344897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901449 Parp14 poly(ADP-ribose) polymerase family member 14 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8901449 Parp14 poly(ADP-ribose) polymerase family member 14 gene DOID:9270 alkaptonuria ISO RGD:1344897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8901502 Ina internexin neuronal intermediate filament protein alpha gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:69037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8901502 Ina internexin neuronal intermediate filament protein alpha gene DOID:3525 middle cerebral artery infarction ISO RGD:10806 D RGD:9068941 20201211 RGD PMID:29967576|REF_RGD_ID:27226878 8901502 Ina internexin neuronal intermediate filament protein alpha gene DOID:630 genetic disease ISO RGD:69037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901502 Ina internexin neuronal intermediate filament protein alpha gene DOID:9002189 High Myopia ISO RGD:69037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8901502 Ina internexin neuronal intermediate filament protein alpha gene DOID:9005125 Lupus Vasculitis, Central Nervous System severity ISO RGD:69037 D RGD:9068941 20201204 RGD PMID:20559547|REF_RGD_ID:40886275 8901511 Pnpla7 patatin like phospholipase domain containing 7 gene DOID:0050436 mulibrey nanism ISO RGD:1353397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome 8901511 Pnpla7 patatin like phospholipase domain containing 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8901511 Pnpla7 patatin like phospholipase domain containing 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353397 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8901511 Pnpla7 patatin like phospholipase domain containing 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8901511 Pnpla7 patatin like phospholipase domain containing 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353397 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8901511 Pnpla7 patatin like phospholipase domain containing 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8901511 Pnpla7 patatin like phospholipase domain containing 7 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1353397 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8901511 Pnpla7 patatin like phospholipase domain containing 7 gene DOID:1826 epilepsy ISO RGD:1353397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8901511 Pnpla7 patatin like phospholipase domain containing 7 gene DOID:5426 primary ovarian insufficiency ISO RGD:1353397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:31042289 8901511 Pnpla7 patatin like phospholipase domain containing 7 gene DOID:630 genetic disease ISO RGD:1353397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901511 Pnpla7 patatin like phospholipase domain containing 7 gene DOID:9002421 Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development ISO RGD:1353397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development PMID:25741868 8901511 Pnpla7 patatin like phospholipase domain containing 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8901557 LOC102020037 chromosome unknown open reading frame, human C4orf3 gene DOID:630 genetic disease ISO RGD:1604907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901557 LOC102020037 chromosome unknown open reading frame, human C4orf3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8901565 Rnaset2 ribonuclease T2 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1320518 D RGD:9068941 20220721 RGD human cells in mouse model PMID:27014725|REF_RGD_ID:153002831 8901565 Rnaset2 ribonuclease T2 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1320518 D RGD:7240710 20180130 OMIM 8901565 Rnaset2 ribonuclease T2 gene DOID:0081007 RNASET2-deficient cystic leukoencephalopathy ISO RGD:1320518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic leukoencephalopathy without megalencephaly PMID:19525954|PMID:25741868|PMID:28492532 8901565 Rnaset2 ribonuclease T2 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1320518 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 8901565 Rnaset2 ribonuclease T2 gene DOID:12361 Graves' disease ISO RGD:1320518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21841780 8901565 Rnaset2 ribonuclease T2 gene DOID:1324 lung cancer ISO RGD:1320518 D RGD:9068941 20220721 RGD DNA:SNP:intergenic:rs444210 (human) PMID:29193083|REF_RGD_ID:153297750 8901565 Rnaset2 ribonuclease T2 gene DOID:1909 melanoma ISO RGD:1320518 D RGD:9068941 20220721 RGD human cells in mouse model PMID:27014725|REF_RGD_ID:153002831 8901565 Rnaset2 ribonuclease T2 gene DOID:219 colon cancer ISO RGD:1320519 D RGD:9068941 20220721 RGD PMID:32197460|REF_RGD_ID:153002804 8901565 Rnaset2 ribonuclease T2 gene DOID:234 colon adenocarcinoma ISO RGD:1320518 D RGD:9068941 20220721 RGD human cells in mouse model PMID:30842415|REF_RGD_ID:153002829 8901565 Rnaset2 ribonuclease T2 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1320518 D RGD:9068941 20220721 RGD mRNA, protein:decreased expression:stomach (human) PMID:32528897|REF_RGD_ID:153002801 8901565 Rnaset2 ribonuclease T2 gene DOID:3883 Lynch syndrome ISO RGD:1320518 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 8901565 Rnaset2 ribonuclease T2 gene DOID:5410 pulmonary neuroendocrine tumor ISO RGD:1320518 D RGD:9068941 20220721 RGD mRNA:increased expression:lung (human) PMID:29763721|REF_RGD_ID:153002569 8901565 Rnaset2 ribonuclease T2 gene DOID:630 genetic disease ISO RGD:1320518 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19525954|PMID:25044680|PMID:25741868|PMID:28492532|PMID:29336640 8901565 Rnaset2 ribonuclease T2 gene DOID:9005172 Lung Neoplasms ISO RGD:1320518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 8901565 Rnaset2 ribonuclease T2 gene DOID:936 brain disease ISO RGD:1320518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525954 8901591 Fezf2 FEZ family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1346685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901604 Slc17a2 solute carrier family 17 member 2 gene DOID:5082 liver cirrhosis ISO RGD:1318813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8901604 Slc17a2 solute carrier family 17 member 2 gene DOID:630 genetic disease ISO RGD:1318813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901604 Slc17a2 solute carrier family 17 member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8901625 Pdpr pyruvate dehydrogenase phosphatase regulatory subunit gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1602881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8901625 Pdpr pyruvate dehydrogenase phosphatase regulatory subunit gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602881 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25558065|PMID:27894351 8901625 Pdpr pyruvate dehydrogenase phosphatase regulatory subunit gene DOID:630 genetic disease ISO RGD:1602881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901646 Tmed6 transmembrane p24 trafficking protein 6 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8901646 Tmed6 transmembrane p24 trafficking protein 6 gene DOID:630 genetic disease ISO RGD:1346090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901654 Nckap1 NCK associated protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8901654 Nckap1 NCK associated protein 1 gene DOID:1059 intellectual disability ISO RGD:732467 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 8901654 Nckap1 NCK associated protein 1 gene DOID:12849 autistic disorder ISO RGD:732467 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:33157009 8901654 Nckap1 NCK associated protein 1 gene DOID:630 genetic disease ISO RGD:732467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901654 Nckap1 NCK associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NCKAP1-Related Disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33157009 8901654 Nckap1 NCK associated protein 1 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:732467 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:28940097|PMID:33157009 8901654 Nckap1 NCK associated protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741875 8901695 Ccdc86 coiled-coil domain containing 86 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1604295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23828858 8901695 Ccdc86 coiled-coil domain containing 86 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8901695 Ccdc86 coiled-coil domain containing 86 gene DOID:1059 intellectual disability ISO RGD:1604295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8901695 Ccdc86 coiled-coil domain containing 86 gene DOID:630 genetic disease ISO RGD:1604295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901704 Slc22a8 solute carrier family 22 member 8 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8901704 Slc22a8 solute carrier family 22 member 8 gene DOID:1059 intellectual disability ISO RGD:732952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8901704 Slc22a8 solute carrier family 22 member 8 gene DOID:5082 liver cirrhosis ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8901704 Slc22a8 solute carrier family 22 member 8 gene DOID:630 genetic disease ISO RGD:732952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901704 Slc22a8 solute carrier family 22 member 8 gene DOID:9001488 Human Influenza ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23129053 8901704 Slc22a8 solute carrier family 22 member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8901704 Slc22a8 solute carrier family 22 member 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8901704 Slc22a8 solute carrier family 22 member 8 gene DOID:9452 steatotic liver disease ISO RGD:732952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8901726 Slc25a20 solute carrier family 25 member 20 gene DOID:0060041 autism spectrum disorder ISO RGD:732535 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8901726 Slc25a20 solute carrier family 25 member 20 gene DOID:0111585 carnitine-acylcarnitine translocase deficiency ISO RGD:732535 D RGD:7240710 20180130 OMIM 8901726 Slc25a20 solute carrier family 25 member 20 gene DOID:0111585 carnitine-acylcarnitine translocase deficiency ISO RGD:732535 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency PMID:10384384|PMID:10697964|PMID:10709662|PMID:11162577|PMID:11350184|PMID:11592821|PMID:12559850|PMID:12801121|PMID:12859414|PMID:15057979|PMID:15365988|PMID:1598097|PMID:16199547|PMID:16919490|PMID:17277394|PMID:17576681|PMID:21605995|PMID:22020112|PMID:24088670|PMID:25032985|PMID:25459972|PMID:25614308|PMID:25741868|PMID:26238931|PMID:27066551|PMID:28492532|PMID:29137068|PMID:29425111|PMID:31319225|PMID:31561269|PMID:31589614|PMID:32337051|PMID:32340404|PMID:32905135|PMID:33634872|PMID:34626609|PMID:34784499|PMID:35360862|PMID:5365988|PMID:9399886|PMID:9536098|PMID:9686371 8901726 Slc25a20 solute carrier family 25 member 20 gene DOID:630 genetic disease ISO RGD:732535 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8901726 Slc25a20 solute carrier family 25 member 20 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:732535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8901726 Slc25a20 solute carrier family 25 member 20 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:732535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8901744 Jph2 junctophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1313081 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:22584458|PMID:23834499|PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532 8901744 Jph2 junctophilin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1313081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532|PMID:30235249|PMID:30615648|PMID:33673806 8901744 Jph2 junctophilin 2 gene DOID:0081161 dilated cardiomyopathy 2E ISO RGD:1313081 D RGD:7240710 20210908 OMIM 8901744 Jph2 junctophilin 2 gene DOID:0081161 dilated cardiomyopathy 2E ISO RGD:1313081 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2E PMID:23861362|PMID:24033266|PMID:25741868|PMID:26718681|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30384889|PMID:30615648|PMID:30847666|PMID:33500567|PMID:35238659 8901744 Jph2 junctophilin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1313081 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17509612|PMID:22389502|PMID:24033266|PMID:25500949|PMID:25741868|PMID:28492532|PMID:30615648 8901744 Jph2 junctophilin 2 gene DOID:0110323 hypertrophic cardiomyopathy 17 ISO RGD:1313081 D RGD:7240710 20180130 OMIM 8901744 Jph2 junctophilin 2 gene DOID:0110323 hypertrophic cardiomyopathy 17 ISO RGD:1313081 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 | ClinVar Annotator: match by term: JPH2-related condition PMID:17476457|PMID:17509612|PMID:22389502|PMID:22584458|PMID:23757202|PMID:23861362|PMID:23973696|PMID:24033266|PMID:25333069|PMID:25741868|PMID:26718681|PMID:27532831|PMID:28087566|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30384889|PMID:30531895|PMID:30615648|PMID:30847666|PMID:33500567|PMID:35026164|PMID:35238659 8901744 Jph2 junctophilin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313081 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17476457|PMID:17509612|PMID:17576681|PMID:22584458|PMID:23757202|PMID:23834499|PMID:23861362|PMID:23973696|PMID:24033266|PMID:25333069|PMID:25500949|PMID:25741868|PMID:26718681|PMID:27532831|PMID:28008999|PMID:28087566|PMID:28254189|PMID:28393127|PMID:28492532|PMID:28771489|PMID:30235249|PMID:30615648|PMID:30847666|PMID:31227780|PMID:32368696|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34062390|PMID:35026164|PMID:35238659|PMID:9536098 8901744 Jph2 junctophilin 2 gene DOID:11984 hypertrophic cardiomyopathy disease_progression ISO RGD:1305196 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:20576937|REF_RGD_ID:6480270 8901744 Jph2 junctophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30384889 8901744 Jph2 junctophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313081 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30384889|PMID:30615648 8901744 Jph2 junctophilin 2 gene DOID:2234 focal epilepsy ISO RGD:1313081 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8901744 Jph2 junctophilin 2 gene DOID:2843 long QT syndrome ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8901744 Jph2 junctophilin 2 gene DOID:630 genetic disease ISO RGD:1313081 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28254189|PMID:28492532|PMID:28771489|PMID:30847666 8901744 Jph2 junctophilin 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:22584458|PMID:23834499|PMID:24033266|PMID:25741868|PMID:28492532 8901744 Jph2 junctophilin 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8901744 Jph2 junctophilin 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1313081 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:34814702 8901744 Jph2 junctophilin 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1313081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy 8901755 Naxe NAD(P)HX epimerase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8901755 Naxe NAD(P)HX epimerase gene DOID:0111940 immunodeficiency 42 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8901755 Naxe NAD(P)HX epimerase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8901755 Naxe NAD(P)HX epimerase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312295 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8901755 Naxe NAD(P)HX epimerase gene DOID:1540 parathyroid carcinoma ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8901755 Naxe NAD(P)HX epimerase gene DOID:5812 MHC class II deficiency ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8901755 Naxe NAD(P)HX epimerase gene DOID:630 genetic disease ISO RGD:1312295 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8901755 Naxe NAD(P)HX epimerase gene DOID:9006901 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy PMID:25741868|PMID:27290639|PMID:27616477|PMID:28492532|PMID:33798445 8901755 Naxe NAD(P)HX epimerase gene DOID:9008024 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 ISO RGD:1312295 D RGD:7240710 20190315 OMIM 8901755 Naxe NAD(P)HX epimerase gene DOID:9008024 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | ClinVar Annotator: match by term: NAXE-related condition PMID:25741868|PMID:27290639|PMID:27616477|PMID:28492532|PMID:33798445 8901755 Naxe NAD(P)HX epimerase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8901755 Naxe NAD(P)HX epimerase gene DOID:936 brain disease ISO RGD:1312295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile encephalopathy PMID:27122014 8901766 Mapre1 microtubule associated protein RP/EB family member 1 gene DOID:630 genetic disease ISO RGD:1353139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901766 Mapre1 microtubule associated protein RP/EB family member 1 gene DOID:9004657 Weight Gain ISO RGD:1353139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8901766 Mapre1 microtubule associated protein RP/EB family member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1353139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8901801 Lmbr1 limb development membrane protein 1 gene DOID:0050603 acheiropody ISO RGD:1352056 D RGD:7240710 20180130 OMIM 8901801 Lmbr1 limb development membrane protein 1 gene DOID:0050603 acheiropody ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acheiropodia PMID:11090342|PMID:33863876 8901801 Lmbr1 limb development membrane protein 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1352056 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 8901801 Lmbr1 limb development membrane protein 1 gene DOID:0111350 Laurin-Sandrow syndrome ISO RGD:1352056 D RGD:7240710 20180130 OMIM 8901801 Lmbr1 limb development membrane protein 1 gene DOID:0111350 Laurin-Sandrow syndrome ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Laurin-Sandrow syndrome PMID:16059937|PMID:24456159 8901801 Lmbr1 limb development membrane protein 1 gene DOID:0111564 hypoplastic or aplastic tibia with polydactyly ISO RGD:1352056 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly PMID:12837695|PMID:18156157|PMID:19847792|PMID:24777739|PMID:24965254|PMID:28492532|PMID:29651423|PMID:32169219|PMID:7726219|PMID:9950363 8901801 Lmbr1 limb development membrane protein 1 gene DOID:0111818 syndactyly type 4 ISO RGD:1352056 D RGD:7240710 20180130 OMIM 8901801 Lmbr1 limb development membrane protein 1 gene DOID:0111818 syndactyly type 4 ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 4 PMID:18417549|PMID:1849351|PMID:19847792 8901801 Lmbr1 limb development membrane protein 1 gene DOID:12849 autistic disorder ISO RGD:1352056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8901801 Lmbr1 limb development membrane protein 1 gene DOID:630 genetic disease ISO RGD:1352056 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8901801 Lmbr1 limb development membrane protein 1 gene DOID:9001425 Triphalangeal Thumb ISO RGD:1352056 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Triphalangeal thumb PMID:10937618|PMID:12837695|PMID:17152067|PMID:18463159|PMID:22340503|PMID:24777739|PMID:28492532|PMID:29651423|PMID:32169219 8901801 Lmbr1 limb development membrane protein 1 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1352056 D RGD:7240710 20221102 OMIM 8901801 Lmbr1 limb development membrane protein 1 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1352056 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome PMID:10937618|PMID:12837695|PMID:17152067|PMID:17300748|PMID:18178630|PMID:18417549|PMID:18463159|PMID:19519794|PMID:20569257|PMID:22340503|PMID:24777739|PMID:28492532|PMID:29651423|PMID:32169219|PMID:8012392 8901801 Lmbr1 limb development membrane protein 1 gene DOID:9007798 Preaxial Polydactyly II ISO RGD:1352056 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II PMID:10937618|PMID:12837695|PMID:17152067|PMID:18463159|PMID:19519794|PMID:20569257|PMID:22340503|PMID:24777739|PMID:28492532|PMID:29651423|PMID:32169219|PMID:8012392 8901813 Oard1 O-acyl-ADP-ribose deacylase 1 gene DOID:630 genetic disease ISO RGD:1317992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901837 Tle5 TLE family member 5, transcriptional modulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8901837 Tle5 TLE family member 5, transcriptional modulator gene DOID:9007102 Myocardial Ischemia ISO RGD:737345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8901865 Plekhh1 pleckstrin homology, MyTH4 and FERM domain containing H1 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1318086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 8901865 Plekhh1 pleckstrin homology, MyTH4 and FERM domain containing H1 gene DOID:630 genetic disease ISO RGD:1318086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901865 Plekhh1 pleckstrin homology, MyTH4 and FERM domain containing H1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8901899 Serpina6 serpin family A member 6 gene DOID:0080054 achondrogenesis type IA ISO RGD:1353758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8901899 Serpina6 serpin family A member 6 gene DOID:0081063 DICER1 syndrome ISO RGD:1353758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 8901899 Serpina6 serpin family A member 6 gene DOID:0090030 corticosteroid-binding globulin deficiency ISO RGD:1353758 D RGD:7240710 20180130 OMIM 8901899 Serpina6 serpin family A member 6 gene DOID:0090030 corticosteroid-binding globulin deficiency ISO RGD:1353758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corticosteroid-binding globulin deficiency PMID:10634411|PMID:11502797|PMID:12780753|PMID:17245537|PMID:25741868|PMID:7061486|PMID:8212073 8901899 Serpina6 serpin family A member 6 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1353758 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 8901899 Serpina6 serpin family A member 6 gene DOID:5082 liver cirrhosis ISO RGD:1353758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8901899 Serpina6 serpin family A member 6 gene DOID:630 genetic disease ISO RGD:1353758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901899 Serpina6 serpin family A member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8901899 Serpina6 serpin family A member 6 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8901899 Serpina6 serpin family A member 6 gene DOID:9452 steatotic liver disease ISO RGD:1353758 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8901931 Mpped1 metallophosphoesterase domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1317908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8901931 Mpped1 metallophosphoesterase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1317908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8901931 Mpped1 metallophosphoesterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1317908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901951 Colec12 collectin subfamily member 12 gene DOID:12849 autistic disorder ISO RGD:1347237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8901951 Colec12 collectin subfamily member 12 gene DOID:303 substance-related disorder ISO RGD:1347237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8901951 Colec12 collectin subfamily member 12 gene DOID:630 genetic disease ISO RGD:1347237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8901951 Colec12 collectin subfamily member 12 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8901951 Colec12 collectin subfamily member 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8901969 Lamc3 laminin subunit gamma 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572417|PMID:28191889 8901969 Lamc3 laminin subunit gamma 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8901969 Lamc3 laminin subunit gamma 3 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1319725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 8901969 Lamc3 laminin subunit gamma 3 gene DOID:1059 intellectual disability ISO RGD:1319725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:33639934 8901969 Lamc3 laminin subunit gamma 3 gene DOID:1826 epilepsy ISO RGD:1319725 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8901969 Lamc3 laminin subunit gamma 3 gene DOID:630 genetic disease ISO RGD:1319725 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28191889|PMID:28492532 8901969 Lamc3 laminin subunit gamma 3 gene DOID:9003313 Occipital Cortical Malformations ISO RGD:1319725 D RGD:7240710 20180130 OMIM 8901969 Lamc3 laminin subunit gamma 3 gene DOID:9003313 Occipital Cortical Malformations ISO RGD:1319725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cortical malformations, occipital PMID:16199547|PMID:18414213|PMID:21572413|PMID:23160955|PMID:25326635|PMID:25741868|PMID:26633542|PMID:26802095|PMID:28492532|PMID:30266093|PMID:32902107|PMID:33639934 8901969 Lamc3 laminin subunit gamma 3 gene DOID:9007364 Mouth Neoplasms ISO RGD:1319725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27749845 8901969 Lamc3 laminin subunit gamma 3 gene DOID:9008539 Perinatal Death ISO RGD:1319725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25741868|PMID:28492532|PMID:33639934 8901969 Lamc3 laminin subunit gamma 3 gene DOID:936 brain disease ISO RGD:1319725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21572413 8902042 Slc30a3 solute carrier family 30 member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1346114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8902042 Slc30a3 solute carrier family 30 member 3 gene DOID:630 genetic disease ISO RGD:1346114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902042 Slc30a3 solute carrier family 30 member 3 gene DOID:9007956 Febrile Seizures ISO RGD:1346114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures 8902065 Tcf4 transcription factor 4 gene DOID:0060041 autism spectrum disorder ISO RGD:732921 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18414213|PMID:25741868 8902065 Tcf4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:7240710 20180130 OMIM 8902065 Tcf4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22777675|PMID:22934316|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25693842|PMID:25741868|PMID:26010163|PMID:26350204|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:28166811|PMID:28492532|PMID:28554332|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28807867|PMID:29318938|PMID:29322350|PMID:29695756|PMID:32581362|PMID:32860008|PMID:33624935|PMID:9536098 8902065 Tcf4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22777675|PMID:22934316|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25693842|PMID:25741868|PMID:26010163|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29318938|PMID:29322350|PMID:29695756|PMID:32581362|PMID:32860008|PMID:33624935|PMID:9536098 8902065 Tcf4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22777675|PMID:22934316|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25693842|PMID:25741868|PMID:26010163|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29318938|PMID:29322350|PMID:29695756|PMID:32056211|PMID:32581362|PMID:32860008|PMID:33624935|PMID:9536098 8902065 Tcf4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION | ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22678594|PMID:22777675|PMID:22934316|PMID:23020937|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25356899|PMID:25693842|PMID:25741868|PMID:25780760|PMID:26010163|PMID:26350204|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29158550|PMID:29318938|PMID:29322350|PMID:29604340|PMID:29655203|PMID:29695756|PMID:31428121|PMID:31785789|PMID:31981491|PMID:32056211|PMID:32581362|PMID:32860008|PMID:33624935|PMID:33767182|PMID:34128147|PMID:34837432|PMID:9536098 8902065 Tcf4 transcription factor 4 gene DOID:0060488 Pitt-Hopkins syndrome ISO RGD:732921 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION | ClinVar Annotator: match by term: Pitt-Hopkins syndrome PMID:12032737|PMID:12848929|PMID:16199547|PMID:16531728|PMID:17436254|PMID:17436255|PMID:17576681|PMID:18414213|PMID:18728071|PMID:18992165|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22045651|PMID:22460224|PMID:22678594|PMID:22777675|PMID:22934316|PMID:23020937|PMID:23033978|PMID:23165966|PMID:23248353|PMID:24077912|PMID:24088041|PMID:24126932|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25356899|PMID:25693842|PMID:25741868|PMID:25780760|PMID:26010163|PMID:26350204|PMID:26467025|PMID:26621827|PMID:26633545|PMID:26993267|PMID:27179618|PMID:28492532|PMID:28631899|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29158550|PMID:29318938|PMID:29322350|PMID:29604340|PMID:29655203|PMID:29695756|PMID:31428121|PMID:31785789|PMID:31981491|PMID:32056211|PMID:32581362|PMID:32860008|PMID:33624935|PMID:33767182|PMID:33958710|PMID:34128147|PMID:34490615|PMID:34748727|PMID:34837432|PMID:35908153|PMID:9536098 8902065 Tcf4 transcription factor 4 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:732921 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25741868 8902065 Tcf4 transcription factor 4 gene DOID:10485 esophageal atresia ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia PMID:28492532 8902065 Tcf4 transcription factor 4 gene DOID:1059 intellectual disability ISO RGD:732921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:12032737|PMID:16531728|PMID:17436254|PMID:17436255|PMID:18728071|PMID:19235238|PMID:22045651|PMID:22460224|PMID:22777675|PMID:25167861|PMID:25741868|PMID:26621827|PMID:26993267|PMID:28492532|PMID:29318938|PMID:33624935 8902065 Tcf4 transcription factor 4 gene DOID:10907 microcephaly ISO RGD:732921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:18728071|PMID:21671391|PMID:22045651|PMID:22460224|PMID:25741868|PMID:28492532|PMID:28708303|PMID:29655203|PMID:29695756|PMID:32581362 8902065 Tcf4 transcription factor 4 gene DOID:114 heart disease ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 8902065 Tcf4 transcription factor 4 gene DOID:1826 epilepsy ISO RGD:732921 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 8902065 Tcf4 transcription factor 4 gene DOID:2303 stereotypic movement disorder ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868 8902065 Tcf4 transcription factor 4 gene DOID:3883 Lynch syndrome ISO RGD:732921 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 8902065 Tcf4 transcription factor 4 gene DOID:574 peripheral nervous system disease ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 8902065 Tcf4 transcription factor 4 gene DOID:630 genetic disease ISO RGD:732921 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12032737|PMID:12848929|PMID:16531728|PMID:17436254|PMID:17436255|PMID:18414213|PMID:18728071|PMID:19235238|PMID:19938247|PMID:21671391|PMID:22040220|PMID:22045651|PMID:22460224|PMID:22777675|PMID:23033978|PMID:24126932|PMID:25167861|PMID:25741868|PMID:26010163|PMID:26467025|PMID:26621827|PMID:27179618|PMID:28492532|PMID:28708303|PMID:28726809|PMID:28951451|PMID:29318938|PMID:29604340|PMID:29655203|PMID:29695756|PMID:31428121|PMID:32581362|PMID:33624935 8902065 Tcf4 transcription factor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8902065 Tcf4 transcription factor 4 gene DOID:9003132 Sialorrhea ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Drooling PMID:25741868 8902065 Tcf4 transcription factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8902065 Tcf4 transcription factor 4 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8902065 Tcf4 transcription factor 4 gene DOID:9007 sudden infant death syndrome ISO RGD:732921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 8902065 Tcf4 transcription factor 4 gene DOID:9007188 Liver Neoplasms ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8902065 Tcf4 transcription factor 4 gene DOID:9008049 Corneal Dystrophy, Fuchs Endothelial, 3 ISO RGD:732921 D RGD:7240710 20180130 OMIM 8902065 Tcf4 transcription factor 4 gene DOID:9008049 Corneal Dystrophy, Fuchs Endothelial, 3 ISO RGD:732921 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3 | ClinVar Annotator: match by term: FCD2 LOCUS PMID:18414213|PMID:18728071|PMID:21671391|PMID:22045651|PMID:22460224|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28708303|PMID:29655203|PMID:29695756|PMID:32581362 8902065 Tcf4 transcription factor 4 gene DOID:9008086 Developmental Disabilities ISO RGD:732921 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18728071|PMID:21671391|PMID:22460224|PMID:22678594|PMID:25741868|PMID:25741890|PMID:28492532|PMID:29695756|PMID:34128147|PMID:34837432 8902065 Tcf4 transcription factor 4 gene DOID:9008582 Developmental Disease ISO RGD:732921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8902065 Tcf4 transcription factor 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436254 8902123 Atp5mc3 ATP synthase membrane subunit c locus 3 gene DOID:0070445 early-onset dystonia and/or spastic paraplegia ISO RGD:734314 D RGD:7240710 20220112 OMIM 8902123 Atp5mc3 ATP synthase membrane subunit c locus 3 gene DOID:0070445 early-onset dystonia and/or spastic paraplegia ISO RGD:734314 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia PMID:19006192|PMID:34636445|PMID:34954817 8902123 Atp5mc3 ATP synthase membrane subunit c locus 3 gene DOID:0080600 COVID-19 ISO RGD:734314 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8902123 Atp5mc3 ATP synthase membrane subunit c locus 3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:734314 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8902123 Atp5mc3 ATP synthase membrane subunit c locus 3 gene DOID:630 genetic disease ISO RGD:734314 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902132 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:735560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8902132 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:37 skin disease ISO RGD:735560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8902132 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:5419 schizophrenia ISO RGD:735560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8902132 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:630 genetic disease ISO RGD:735560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902132 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:735561 D RGD:9068941 20210212 RGD associated with Endotoxemia;mRNA, protein:increased expression:lung (mouse) PMID:31167111|REF_RGD_ID:41410778 8902132 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8902132 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:735560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8902132 Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 gene DOID:9970 obesity ISO RGD:735560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8902162 Apba1 amyloid beta precursor protein binding family A member 1 gene DOID:630 genetic disease ISO RGD:732461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902180 Ctnnal1 catenin alpha like 1 gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1322895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 8902180 Ctnnal1 catenin alpha like 1 gene DOID:630 genetic disease ISO RGD:1322895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902207 Atp6v0d2 ATPase H+ transporting V0 subunit d2 gene DOID:5119 ovarian cyst ISO RGD:1315777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8902207 Atp6v0d2 ATPase H+ transporting V0 subunit d2 gene DOID:630 genetic disease ISO RGD:1315777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902207 Atp6v0d2 ATPase H+ transporting V0 subunit d2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315777 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 8902221 Insig1 insulin induced gene 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1347615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 8902221 Insig1 insulin induced gene 1 gene DOID:12849 autistic disorder ISO RGD:1347615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8902221 Insig1 insulin induced gene 1 gene DOID:305 carcinoma ISO RGD:1347615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8902221 Insig1 insulin induced gene 1 gene DOID:630 genetic disease ISO RGD:1347615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902221 Insig1 insulin induced gene 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8902221 Insig1 insulin induced gene 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8902221 Insig1 insulin induced gene 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1332305 D RGD:9068941 20200609 RGD PMID:16327801|REF_RGD_ID:2308858 8902221 Insig1 insulin induced gene 1 gene DOID:9006599 Hypertriglyceridemia severity ISO RGD:1332305 D RGD:9068941 20200609 RGD associated with Obesity PMID:15096598|REF_RGD_ID:2308857 8902221 Insig1 insulin induced gene 1 gene DOID:9452 steatotic liver disease ISO RGD:708457 D RGD:9068941 20200609 RGD associated with Obesity;mRNA:increased expression:liver PMID:15096598|REF_RGD_ID:2308857 8902221 Insig1 insulin induced gene 1 gene DOID:9452 steatotic liver disease severity ISO RGD:1332305 D RGD:9068941 20200609 RGD associated with Obesity PMID:15096598|REF_RGD_ID:2308857 8902247 Lrp11 LDL receptor related protein 11 gene DOID:630 genetic disease ISO RGD:1318469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902258 Rpap1 RNA polymerase II associated protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1342806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8902258 Rpap1 RNA polymerase II associated protein 1 gene DOID:630 genetic disease ISO RGD:1342806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902258 Rpap1 RNA polymerase II associated protein 1 gene DOID:9256 colorectal cancer ISO RGD:1342806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8902287 Znf692 zinc finger protein 692 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604343 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8902287 Znf692 zinc finger protein 692 gene DOID:630 genetic disease ISO RGD:1604343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902287 Znf692 zinc finger protein 692 gene DOID:9002189 High Myopia ISO RGD:1604343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8902306 Ctif cap binding complex dependent translation initiation factor gene DOID:1059 intellectual disability ISO RGD:1350648 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8902306 Ctif cap binding complex dependent translation initiation factor gene DOID:630 genetic disease ISO RGD:1350648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902331 Elf1 E74 like ETS transcription factor 1 gene DOID:0080600 COVID-19 ISO RGD:734281 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8902331 Elf1 E74 like ETS transcription factor 1 gene DOID:630 genetic disease ISO RGD:734281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902345 Usp1 ubiquitin specific peptidase 1 gene DOID:1059 intellectual disability ISO RGD:1315093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8902345 Usp1 ubiquitin specific peptidase 1 gene DOID:13636 Fanconi anemia ISO RGD:1315094 D RGD:9068941 20220825 MouseDO 8902345 Usp1 ubiquitin specific peptidase 1 gene DOID:630 genetic disease ISO RGD:1315093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902365 Sema5b semaphorin 5B gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1318955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8902365 Sema5b semaphorin 5B gene DOID:630 genetic disease ISO RGD:1318955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902365 Sema5b semaphorin 5B gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8902365 Sema5b semaphorin 5B gene DOID:9270 alkaptonuria ISO RGD:1318955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8902395 Cpa3 carboxypeptidase A3 gene DOID:0050579 glycogen storage disease XV ISO RGD:733833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8902395 Cpa3 carboxypeptidase A3 gene DOID:0080600 COVID-19 ISO RGD:733833 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8902395 Cpa3 carboxypeptidase A3 gene DOID:630 genetic disease ISO RGD:733833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902409 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 8902409 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:0080600 COVID-19 ISO RGD:737516 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8902409 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:11400 pyelonephritis ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23565217 8902409 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:3042 allergic contact dermatitis ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8902409 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:3068 glioblastoma ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23724780 8902409 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 8902409 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:8634 prostate carcinoma in situ ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23565217 8902409 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:9006205 Animal Disease Models ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 8902409 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23565217 8902409 Pim1 Pim-1 proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:737516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:0050852 limb ischemia ISO RGD:734164 D RGD:9068941 20200609 RGD PMID:26315408|REF_RGD_ID:14367880 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:0060326 myelomeningocele ISO RGD:734163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16237707 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:0080216 duodenal atresia ISO RGD:734164 D RGD:9068941 20200609 RGD mRNA:decreased expression:duodenum PMID:21492869|REF_RGD_ID:14367883 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:0080216 duodenal atresia severity ISO RGD:734164 D RGD:9068941 20200609 RGD PMID:23021139|REF_RGD_ID:14367881 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:0080855 Parkinsonism ISO RGD:734163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25045800 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:11198 DiGeorge syndrome ISO RGD:734164 D RGD:9068941 20200609 RGD PMID:12563036|REF_RGD_ID:734550 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:11198 DiGeorge syndrome ISO RGD:734164 D RGD:9068941 20220825 MouseDO OMIM:188400 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:2717 Bloom syndrome ISO RGD:734163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:630 genetic disease ISO RGD:734163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:8398 osteoarthritis ISO RGD:734163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24728293 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:9001909 Diaphragmatic Hernia 4 ISO RGD:734163 D RGD:7240710 20220921 OMIM 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:9001909 Diaphragmatic Hernia 4 ISO RGD:734163 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia 4, with cardiovascular defects PMID:33565183 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:734163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16166285 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:9002819 Coronary Occlusion disease_progression ISO RGD:734163 D RGD:9068941 20200609 RGD PMID:26315408|REF_RGD_ID:14367880 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:734164 D RGD:9068941 20200609 RGD mRNA:increased expression:macrophage PMID:22927819|REF_RGD_ID:14367882 8902435 Aldh1a2 aldehyde dehydrogenase 1 family member A2 gene DOID:9256 colorectal cancer ISO RGD:734163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8902456 Mrpl1 mitochondrial ribosomal protein L1 gene DOID:630 genetic disease ISO RGD:1315701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902496 Grid2ip Grid2 interacting protein gene DOID:10652 Alzheimer's disease ISO RGD:1351156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868 8902496 Grid2ip Grid2 interacting protein gene DOID:630 genetic disease ISO RGD:1351156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902527 Rnf32 ring finger protein 32 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1317975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 8902527 Rnf32 ring finger protein 32 gene DOID:12849 autistic disorder ISO RGD:1317975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8902527 Rnf32 ring finger protein 32 gene DOID:630 genetic disease ISO RGD:1317975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902527 Rnf32 ring finger protein 32 gene DOID:9003769 Patterson Stevenson Syndrome ISO RGD:1317975 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome PMID:18178630 8902550 Pdzd2 PDZ domain containing 2 gene DOID:630 genetic disease ISO RGD:735643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902550 Pdzd2 PDZ domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8902550 Pdzd2 PDZ domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:735643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8902587 Cfap69 cilia and flagella associated protein 69 gene DOID:0111929 spermatogenic failure 24 ISO RGD:1605631 D RGD:7240710 20190315 OMIM 8902587 Cfap69 cilia and flagella associated protein 69 gene DOID:0111929 spermatogenic failure 24 ISO RGD:1605631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 24 PMID:25741868|PMID:29606301|PMID:30415212 8902587 Cfap69 cilia and flagella associated protein 69 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8902587 Cfap69 cilia and flagella associated protein 69 gene DOID:630 genetic disease ISO RGD:1605631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902623 Itga11 integrin subunit alpha 11 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8902623 Itga11 integrin subunit alpha 11 gene DOID:1793 pancreatic cancer ISO RGD:1323311 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 8902623 Itga11 integrin subunit alpha 11 gene DOID:2717 Bloom syndrome ISO RGD:1323311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8902623 Itga11 integrin subunit alpha 11 gene DOID:630 genetic disease ISO RGD:1323311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902623 Itga11 integrin subunit alpha 11 gene DOID:9256 colorectal cancer ISO RGD:1323311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8902663 Dcst1 DC-STAMP domain containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8902663 Dcst1 DC-STAMP domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8902663 Dcst1 DC-STAMP domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8902663 Dcst1 DC-STAMP domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602181 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8902663 Dcst1 DC-STAMP domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8902663 Dcst1 DC-STAMP domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8902663 Dcst1 DC-STAMP domain containing 1 gene DOID:630 genetic disease ISO RGD:1602181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902663 Dcst1 DC-STAMP domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8902699 Orai3 ORAI calcium release-activated calcium modulator 3 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1602192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8902699 Orai3 ORAI calcium release-activated calcium modulator 3 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1602192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 8902699 Orai3 ORAI calcium release-activated calcium modulator 3 gene DOID:630 genetic disease ISO RGD:1602192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902708 Syde2 synapse defective Rho GTPase homolog 2 gene DOID:630 genetic disease ISO RGD:1602090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902729 Znf646 zinc finger protein 646 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1351485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8902729 Znf646 zinc finger protein 646 gene DOID:630 genetic disease ISO RGD:1351485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902748 Cnih3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1343893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8902748 Cnih3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:289 endometriosis ISO RGD:1343893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8902748 Cnih3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:630 genetic disease ISO RGD:1343893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902748 Cnih3 cornichon family AMPA receptor auxiliary protein 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8902761 Ptdss1 phosphatidylserine synthase 1 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1319019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 8902761 Ptdss1 phosphatidylserine synthase 1 gene DOID:0111507 Lenz-Majewski hyperostotic dwarfism ISO RGD:1319019 D RGD:7240710 20180130 OMIM 8902761 Ptdss1 phosphatidylserine synthase 1 gene DOID:0111507 Lenz-Majewski hyperostotic dwarfism ISO RGD:1319019 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Lenz-Majewski hyperostosis syndrome PMID:10756342|PMID:15194948|PMID:24241535|PMID:25741868|PMID:2773987|PMID:29341480 8902761 Ptdss1 phosphatidylserine synthase 1 gene DOID:10907 microcephaly ISO RGD:1319019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8902761 Ptdss1 phosphatidylserine synthase 1 gene DOID:630 genetic disease ISO RGD:1319019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8902778 Vsig10l V-set and immunoglobulin domain containing 10 like gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:3440350 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 8902778 Vsig10l V-set and immunoglobulin domain containing 10 like gene DOID:0080600 COVID-19 ISO RGD:3440350 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8902778 Vsig10l V-set and immunoglobulin domain containing 10 like gene DOID:630 genetic disease ISO RGD:3440350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant PMID:28492532 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:0111012 cone-rod dystrophy 7 ISO RGD:731818 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 7 PMID:12659814|PMID:18690027|PMID:23591405|PMID:25741868|PMID:27176872|PMID:28191889|PMID:28492532|PMID:35947379|PMID:9634506 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:10584 retinitis pigmentosa ISO RGD:731818 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:32483926 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:12849 autistic disorder ISO RGD:731818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25961944 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:1415 gyrate atrophy ISO RGD:731818 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ornithine aminotransferase deficiency PMID:16199547|PMID:25741868|PMID:28492532|PMID:32531858 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:731818 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:2843 long QT syndrome ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:3312 bipolar disorder ISO RGD:731818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:3659 sialuria ISO RGD:731818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:630 genetic disease ISO RGD:731818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:8501 fundus dystrophy ISO RGD:731818 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12659814|PMID:18690027|PMID:25741868|PMID:27176872|PMID:28492532|PMID:35947379|PMID:9634506 8902797 Rims1 regulating synaptic membrane exocytosis 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8902833 Lmo3 LIM domain only 3 gene DOID:630 genetic disease ISO RGD:1346701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902876 Mpeg1 macrophage expressed 1 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:736355 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 8902876 Mpeg1 macrophage expressed 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8902876 Mpeg1 macrophage expressed 1 gene DOID:0111152 multicentric Castleman disease ISO RGD:736355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 8902876 Mpeg1 macrophage expressed 1 gene DOID:1059 intellectual disability ISO RGD:736355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8902876 Mpeg1 macrophage expressed 1 gene DOID:630 genetic disease ISO RGD:736355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902876 Mpeg1 macrophage expressed 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8902876 Mpeg1 macrophage expressed 1 gene DOID:9001958 Immunodeficiency 77 ISO RGD:736355 D RGD:7240710 20210324 OMIM 8902876 Mpeg1 macrophage expressed 1 gene DOID:9001958 Immunodeficiency 77 ISO RGD:736355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 77 PMID:25741868|PMID:28422754|PMID:33224153 8902884 Gngt1 G protein subunit gamma transducin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1351801 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8902884 Gngt1 G protein subunit gamma transducin 1 gene DOID:10283 prostate cancer ISO RGD:1351801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8902884 Gngt1 G protein subunit gamma transducin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8902884 Gngt1 G protein subunit gamma transducin 1 gene DOID:630 genetic disease ISO RGD:1351801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902899 Nup35 nucleoporin 35 gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1550583 D RGD:9068941 20220825 MouseDO 8902899 Nup35 nucleoporin 35 gene DOID:10316 pneumoconiosis ISO RGD:1353367 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8902899 Nup35 nucleoporin 35 gene DOID:13938 amenorrhea ISO RGD:1353367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8902899 Nup35 nucleoporin 35 gene DOID:630 genetic disease ISO RGD:1353367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902944 Tacc2 transforming acidic coiled-coil containing protein 2 gene DOID:2340 craniosynostosis ISO RGD:1349981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 8902944 Tacc2 transforming acidic coiled-coil containing protein 2 gene DOID:630 genetic disease ISO RGD:1349981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8902996 Ghdc GH3 domain containing gene DOID:630 genetic disease ISO RGD:1603379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903012 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:0060180 colitis ISO RGD:1344591 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16917232 8903012 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:3044 food allergy ISO RGD:3029 D RGD:9068941 20200609 RGD PMID:14670821|REF_RGD_ID:2311549 8903012 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:5119 ovarian cyst ISO RGD:1344591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8903012 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1344591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903012 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:8778 Crohn's disease ISO RGD:3029 D RGD:9068941 20200609 RGD PMID:11703369|REF_RGD_ID:2311550 8903012 Madcam1 mucosal vascular addressin cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731299 D RGD:9068941 20200609 RGD PMID:17827401|PMID:9313747|REF_RGD_ID:2311544|REF_RGD_ID:2311545 8903025 Dgkb diacylglycerol kinase beta gene DOID:0060224 atrial fibrillation ISO RGD:731815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8903025 Dgkb diacylglycerol kinase beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8903025 Dgkb diacylglycerol kinase beta gene DOID:630 genetic disease ISO RGD:731815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903064 Fchsd2 FCH and double SH3 domains 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1312475 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8903064 Fchsd2 FCH and double SH3 domains 2 gene DOID:1059 intellectual disability ISO RGD:1312475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8903064 Fchsd2 FCH and double SH3 domains 2 gene DOID:630 genetic disease ISO RGD:1312475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903064 Fchsd2 FCH and double SH3 domains 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1312475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8903092 Coprs coordinator of PRMT5 and differentiation stimulator gene DOID:1969 cerebral palsy ISO RGD:1602321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8903092 Coprs coordinator of PRMT5 and differentiation stimulator gene DOID:630 genetic disease ISO RGD:1602321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903092 Coprs coordinator of PRMT5 and differentiation stimulator gene DOID:9008086 Developmental Disabilities ISO RGD:1602321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 8903113 Mep1b meprin A subunit beta gene DOID:1059 intellectual disability ISO RGD:737385 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8903113 Mep1b meprin A subunit beta gene DOID:630 genetic disease ISO RGD:737385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903148 Fbxo21 F-box protein 21 gene DOID:630 genetic disease ISO RGD:1316490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903148 Fbxo21 F-box protein 21 gene DOID:9004657 Weight Gain ISO RGD:1316490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8903168 Nhej1 non-homologous end joining factor 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8903168 Nhej1 non-homologous end joining factor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8903168 Nhej1 non-homologous end joining factor 1 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1602683 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome PMID:25741868 8903168 Nhej1 non-homologous end joining factor 1 gene DOID:0111816 syndactyly type 1 ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 1 8903168 Nhej1 non-homologous end joining factor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8903168 Nhej1 non-homologous end joining factor 1 gene DOID:1148 polydactyly ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8903168 Nhej1 non-homologous end joining factor 1 gene DOID:1417 choroid disease ISO RGD:12356698 D RGD:9068941 20231207 OMIA Choroidal hypoplasia, NHEJ1-related PMID:10701187|PMID:10879403|PMID:11327669|PMID:120471|PMID:12809679|PMID:14268789|PMID:14437837|PMID:16178848|PMID:17204124|PMID:17916641|PMID:19946851|PMID:20807925|PMID:22051190|PMID:22065099|PMID:24939474|PMID:26346323|PMID:26732749|PMID:27387721|PMID:28702949|PMID:29111596|PMID:29708978|PMID:30657768|PMID:31684941|PMID:34544496|PMID:35092136|PMID:35127102|PMID:35369581|PMID:36848350|PMID:38003037|PMID:4631461|PMID:480920|PMID:4959239|PMID:4980211|PMID:4980212|PMID:4992161|PMID:4994718|PMID:5884039|PMID:5949333|PMID:6777963|PMID:6787732|PMID:6812274|PMID:7147637|PMID:9800301 8903168 Nhej1 non-homologous end joining factor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8903168 Nhej1 non-homologous end joining factor 1 gene DOID:630 genetic disease ISO RGD:1602683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8903168 Nhej1 non-homologous end joining factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8903168 Nhej1 non-homologous end joining factor 1 gene DOID:9007485 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation ISO RGD:1602683 D RGD:7240710 20180130 OMIM 8903168 Nhej1 non-homologous end joining factor 1 gene DOID:9007485 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation ISO RGD:1602683 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: NHEJ1 SYNDROME | ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency PMID:12604777|PMID:16199547|PMID:16439204|PMID:16439205|PMID:16571728|PMID:17317666|PMID:17576681|PMID:20597108|PMID:21721379|PMID:25661488|PMID:25741868|PMID:26122175|PMID:26193622|PMID:28492532|PMID:28741180|PMID:31130284|PMID:31589614|PMID:31589898|PMID:9536098 8903208 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:734363 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8903208 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:734363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8903208 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:0111546 Currarino syndrome ISO RGD:734363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8903208 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:1793 pancreatic cancer ISO RGD:734363 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:15688370|REF_RGD_ID:2325200 8903208 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:630 genetic disease ISO RGD:734363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903208 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:7148 rheumatoid arthritis ISO RGD:734363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 8903208 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8903208 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:9004009 Reperfusion Injury ISO RGD:70913 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain, neuron PMID:16997484|REF_RGD_ID:2301088 8903208 Abcc5 ATP binding cassette subfamily C member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:734363 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8903255 Zfp37 ZFP37 zinc finger protein gene DOID:630 genetic disease ISO RGD:736935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903255 Zfp37 ZFP37 zinc finger protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736935 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8903274 Snapc5 small nuclear RNA activating complex polypeptide 5 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome 8903274 Snapc5 small nuclear RNA activating complex polypeptide 5 gene DOID:0080690 RASopathy ISO RGD:1313202 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 8903274 Snapc5 small nuclear RNA activating complex polypeptide 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1313202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8903274 Snapc5 small nuclear RNA activating complex polypeptide 5 gene DOID:1909 melanoma ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma PMID:22197931 8903274 Snapc5 small nuclear RNA activating complex polypeptide 5 gene DOID:2717 Bloom syndrome ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8903274 Snapc5 small nuclear RNA activating complex polypeptide 5 gene DOID:2843 long QT syndrome ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8903274 Snapc5 small nuclear RNA activating complex polypeptide 5 gene DOID:3490 Noonan syndrome ISO RGD:1313202 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:28492532 8903274 Snapc5 small nuclear RNA activating complex polypeptide 5 gene DOID:630 genetic disease ISO RGD:1313202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8903274 Snapc5 small nuclear RNA activating complex polypeptide 5 gene DOID:9256 colorectal cancer ISO RGD:1313202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8903285 Atp5mc1 ATP synthase membrane subunit c locus 1 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1348420 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8903285 Atp5mc1 ATP synthase membrane subunit c locus 1 gene DOID:630 genetic disease ISO RGD:1348420 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903301 Rgs9 regulator of G protein signaling 9 gene DOID:0050335 bradyopsia ISO RGD:732260 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Bradyopsia PMID:11262419|PMID:14702087|PMID:17826834|PMID:19818506|PMID:25741868|PMID:28492532|PMID:30718709 8903301 Rgs9 regulator of G protein signaling 9 gene DOID:0070363 bradyopsia 1 ISO RGD:732260 D RGD:7240710 20230505 OMIM 8903301 Rgs9 regulator of G protein signaling 9 gene DOID:0080855 Parkinsonism ISO RGD:3572 D RGD:9068941 20200609 RGD protein:decreased expression:striatum PMID:20561938|REF_RGD_ID:13524532 8903301 Rgs9 regulator of G protein signaling 9 gene DOID:0080855 Parkinsonism ISO RGD:736730 D RGD:9068941 20200609 RGD PMID:18160641|REF_RGD_ID:13524864 8903301 Rgs9 regulator of G protein signaling 9 gene DOID:0080855 Parkinsonism treatment ISO RGD:3572 D RGD:9068941 20200609 RGD PMID:21963945|REF_RGD_ID:13524862 8903301 Rgs9 regulator of G protein signaling 9 gene DOID:14791 Leber congenital amaurosis ISO RGD:732260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:14702087|PMID:17826834|PMID:19818506|PMID:28492532|PMID:30718709 8903301 Rgs9 regulator of G protein signaling 9 gene DOID:5419 schizophrenia ISO RGD:732260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17318883 8903301 Rgs9 regulator of G protein signaling 9 gene DOID:630 genetic disease ISO RGD:732260 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8903301 Rgs9 regulator of G protein signaling 9 gene DOID:8646 substance-induced psychosis ISO RGD:732260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17318883 8903301 Rgs9 regulator of G protein signaling 9 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:732260 D RGD:9068941 20200609 RGD DNA:mutation PMID:14702087|REF_RGD_ID:1599999 8903301 Rgs9 regulator of G protein signaling 9 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:732260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome PMID:28492532 8903301 Rgs9 regulator of G protein signaling 9 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:732260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18160641|PMID:24663062 8903339 Mras muscle RAS oncogene homolog gene DOID:0080690 RASopathy ISO RGD:733433 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25741868|PMID:28289718|PMID:30348783|PMID:31108500|PMID:31638832 8903339 Mras muscle RAS oncogene homolog gene DOID:0112169 Noonan syndrome 11 ISO RGD:733433 D RGD:7240710 20190731 OMIM 8903339 Mras muscle RAS oncogene homolog gene DOID:0112169 Noonan syndrome 11 ISO RGD:733433 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 11 PMID:25252692|PMID:25741868|PMID:28289718|PMID:28492532|PMID:30348783|PMID:31108500|PMID:31173466|PMID:31638832 8903339 Mras muscle RAS oncogene homolog gene DOID:3393 coronary artery disease ISO RGD:733433 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:35590109 8903339 Mras muscle RAS oncogene homolog gene DOID:3407 carotid artery disease ISO RGD:733433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198612 8903339 Mras muscle RAS oncogene homolog gene DOID:630 genetic disease ISO RGD:733433 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28289718|PMID:28492532 8903339 Mras muscle RAS oncogene homolog gene DOID:9000528 Coronary Disease ISO RGD:733433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8903339 Mras muscle RAS oncogene homolog gene DOID:9352 type 2 diabetes mellitus ISO RGD:733433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 8903363 Fzd4 frizzled class receptor 4 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 8903363 Fzd4 frizzled class receptor 4 gene DOID:0060844 Norrie disease ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 8903363 Fzd4 frizzled class receptor 4 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:736680 D RGD:7240710 20180130 OMIM 8903363 Fzd4 frizzled class receptor 4 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:736680 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:12172548|PMID:14507768|PMID:15035989|PMID:15370539|PMID:15488808|PMID:15733276|PMID:15981244|PMID:17955262|PMID:19324841|PMID:20340138|PMID:20938005|PMID:21097938|PMID:21177847|PMID:21179236|PMID:21681106|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26227961|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 8903363 Fzd4 frizzled class receptor 4 gene DOID:1059 intellectual disability ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8903363 Fzd4 frizzled class receptor 4 gene DOID:11193 syndactyly ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 8903363 Fzd4 frizzled class receptor 4 gene DOID:13025 retinopathy of prematurity ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinopathy of prematurity PMID:15733276|PMID:25741868|PMID:28492532 8903363 Fzd4 frizzled class receptor 4 gene DOID:5679 retinal disease ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 8903363 Fzd4 frizzled class receptor 4 gene DOID:630 genetic disease ISO RGD:736680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8903363 Fzd4 frizzled class receptor 4 gene DOID:674 cleft palate ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 8903363 Fzd4 frizzled class receptor 4 gene DOID:7765 Coats disease ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 8903363 Fzd4 frizzled class receptor 4 gene DOID:8501 fundus dystrophy ISO RGD:736680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14507768|PMID:15035989|PMID:17955262|PMID:20340138|PMID:20938005|PMID:24033266|PMID:24744206|PMID:25711638|PMID:25741868|PMID:26908610|PMID:27316669|PMID:28492532|PMID:30452590|PMID:31294129 8903363 Fzd4 frizzled class receptor 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:736680 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18068632|REF_RGD_ID:2298702 8903363 Fzd4 frizzled class receptor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736680 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18068632|REF_RGD_ID:2298702 8903363 Fzd4 frizzled class receptor 4 gene DOID:9005367 Arachnodactyly ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 8903363 Fzd4 frizzled class receptor 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103440 8903369 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:0080016 spina bifida ISO RGD:733720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16256389 8903369 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:10652 Alzheimer's disease ISO RGD:733720 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex: PMID:8736634|REF_RGD_ID:10448277 8903369 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:3069 malignant astrocytoma ISO RGD:733720 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:brain: PMID:15857672|REF_RGD_ID:10448283 8903369 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:3070 high grade glioma ISO RGD:3268 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain: PMID:15857672|REF_RGD_ID:10448283 8903369 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:6000 congestive heart failure ISO RGD:733721 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:23647599|REF_RGD_ID:10448278 8903369 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:630 genetic disease ISO RGD:733720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903369 Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase gene DOID:9008752 Aortic Injuries ISO RGD:3268 D RGD:9068941 20200609 RGD PMID:9188065|REF_RGD_ID:10448925 8903401 Tle1 TLE family member 1, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:1319465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903440 As3mt arsenite methyltransferase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25461954 8903440 As3mt arsenite methyltransferase gene DOID:11054 urinary bladder cancer ISO RGD:1350697 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:22747749|PMID:29669044|PMID:29859237|PMID:32539094 8903440 As3mt arsenite methyltransferase gene DOID:5419 schizophrenia ISO RGD:1350697 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27158905 8903440 As3mt arsenite methyltransferase gene DOID:630 genetic disease ISO RGD:1350697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903440 As3mt arsenite methyltransferase gene DOID:9003996 Birth Weight ISO RGD:1350697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26928318 8903440 As3mt arsenite methyltransferase gene DOID:9005172 Lung Neoplasms ISO RGD:1350697 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36399430 8903440 As3mt arsenite methyltransferase gene DOID:9006493 Glandular and Epithelial Neoplasms ISO RGD:1350697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21447609 8903440 As3mt arsenite methyltransferase gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1350697 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:24361376 8903440 As3mt arsenite methyltransferase gene DOID:9007692 Insulin Resistance ISO RGD:1350697 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 8903440 As3mt arsenite methyltransferase gene DOID:9007964 Arsenic Poisoning ISO RGD:1350697 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21447609|PMID:26366667|PMID:35226250 8903440 As3mt arsenite methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1350697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28235556 8903459 Lats2 large tumor suppressor kinase 2 gene DOID:1788 peritoneal mesothelioma ISO RGD:1314216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma 8903459 Lats2 large tumor suppressor kinase 2 gene DOID:3069 malignant astrocytoma ISO RGD:1314216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17049657 8903459 Lats2 large tumor suppressor kinase 2 gene DOID:630 genetic disease ISO RGD:1314216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903459 Lats2 large tumor suppressor kinase 2 gene DOID:9256 colorectal cancer treatment ISO RGD:1314216 D RGD:9068941 20220728 RGD Human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 8903473 Ophn1 oligophrenin 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1557080 D RGD:9068941 20220825 MouseDO OMIM:300486 | OMIM:300860 | OMIM:309583 8903473 Ophn1 oligophrenin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8903473 Ophn1 oligophrenin 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8903473 Ophn1 oligophrenin 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1345567 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31474318 8903473 Ophn1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:7240710 20180130 OMIM 8903473 Ophn1 oligophrenin 1 gene DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance ISO RGD:1345567 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 60 | ClinVar Annotator: match by term: OPHN1-related condition PMID:10818214|PMID:12807966|PMID:16199547|PMID:16221952|PMID:18414213|PMID:20528889|PMID:23552953|PMID:25741868|PMID:26467025|PMID:26542245|PMID:28492532|PMID:32238909|PMID:33638601|PMID:34906502|PMID:9582072 8903473 Ophn1 oligophrenin 1 gene DOID:1059 intellectual disability ISO RGD:1345567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8903473 Ophn1 oligophrenin 1 gene DOID:12849 autistic disorder ISO RGD:1345567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8903473 Ophn1 oligophrenin 1 gene DOID:14737 craniofrontonasal syndrome ISO RGD:1345567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 8903473 Ophn1 oligophrenin 1 gene DOID:1826 epilepsy ISO RGD:1345567 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 8903473 Ophn1 oligophrenin 1 gene DOID:630 genetic disease ISO RGD:1345567 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10818214|PMID:16221952|PMID:18414213|PMID:23552953|PMID:24105372|PMID:25741868|PMID:26467025|PMID:26542245|PMID:28492532 8903473 Ophn1 oligophrenin 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 8903473 Ophn1 oligophrenin 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345567 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:12805098|REF_RGD_ID:13207442 8903473 Ophn1 oligophrenin 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345567 D RGD:9068941 20200609 RGD DNA:frameshift mutation:exon:p.P199_V200insEFSLLMNGLKIFIKCL (human) PMID:21796728|REF_RGD_ID:13207441 8903505 Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0050632 oculocutaneous albinism ISO RGD:1605436 D RGD:9068941 20200609 RGD associated with Hermanski-Pudlak Syndrome;DNA:mutations:multiple: PMID:16185271|REF_RGD_ID:11354899 8903505 Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1605436 D RGD:7240710 20180130 OMIM 8903505 Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1605436 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 PMID:10971344|PMID:12442288|PMID:14510955|PMID:15519141|PMID:15952982|PMID:16185271|PMID:16199547|PMID:17365864|PMID:17576681|PMID:18326704|PMID:19334085|PMID:19398212|PMID:19665357|PMID:20301464|PMID:20514622|PMID:20662851|PMID:21458243|PMID:21833017|PMID:24033266|PMID:24583434|PMID:25741868|PMID:26575419|PMID:26785811|PMID:26806224|PMID:27593200|PMID:28081892|PMID:28492532|PMID:29345414|PMID:29941477|PMID:30387913|PMID:30634918|PMID:30985222|PMID:31064749|PMID:31141302|PMID:31898847|PMID:32581362|PMID:32662942|PMID:32725903|PMID:33878481|PMID:34216551|PMID:34362826|PMID:34838614|PMID:8274781|PMID:8896559|PMID:9345105|PMID:9497254|PMID:9536098|PMID:9562579|PMID:9705234 8903505 Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:0060542 Hermansky-Pudlak syndrome 4 ISO RGD:1605436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis PMID:12442288|PMID:16185271|PMID:25741868|PMID:28492532 8903505 Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:69205 D RGD:9068941 20220825 MouseDO OMIM:185050 8903505 Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1605436 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:10971344|PMID:12442288|PMID:14510955|PMID:15519141|PMID:15952982|PMID:16185271|PMID:16199547|PMID:17365864|PMID:17576681|PMID:19334085|PMID:19398212|PMID:19665357|PMID:20301464|PMID:20514622|PMID:20662851|PMID:21458243|PMID:23103514|PMID:24033266|PMID:24583434|PMID:25741868|PMID:26575419|PMID:26785811|PMID:26806224|PMID:27593200|PMID:28081892|PMID:28492532|PMID:29941477|PMID:30387913|PMID:30634918|PMID:30985222|PMID:31064749|PMID:31141302|PMID:31898847|PMID:32581362|PMID:32662942|PMID:32725903|PMID:33878481|PMID:34216551|PMID:34362826|PMID:34838614|PMID:8274781|PMID:8896559|PMID:9345105|PMID:9497254|PMID:9536098|PMID:9562579|PMID:9705234 8903505 Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 gene DOID:630 genetic disease ISO RGD:1605436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12442288|PMID:16185271|PMID:20662851|PMID:24033266|PMID:25741868|PMID:27593200|PMID:28492532|PMID:8896559|PMID:9345105|PMID:9497254|PMID:9562579 8903544 Nkain4 sodium/potassium transporting ATPase interacting 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8903544 Nkain4 sodium/potassium transporting ATPase interacting 4 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1314067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8903544 Nkain4 sodium/potassium transporting ATPase interacting 4 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1314067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8903544 Nkain4 sodium/potassium transporting ATPase interacting 4 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1314067 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8903544 Nkain4 sodium/potassium transporting ATPase interacting 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8903544 Nkain4 sodium/potassium transporting ATPase interacting 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8903544 Nkain4 sodium/potassium transporting ATPase interacting 4 gene DOID:630 genetic disease ISO RGD:1314067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903562 Zmiz1 zinc finger MIZ-type containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1323172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8903562 Zmiz1 zinc finger MIZ-type containing 1 gene DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ISO RGD:1323172 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868 8903562 Zmiz1 zinc finger MIZ-type containing 1 gene DOID:1059 intellectual disability ISO RGD:1323172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 8903562 Zmiz1 zinc finger MIZ-type containing 1 gene DOID:10608 celiac disease ISO RGD:1323172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 8903562 Zmiz1 zinc finger MIZ-type containing 1 gene DOID:3347 osteosarcoma ISO RGD:1323172 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34508303 8903562 Zmiz1 zinc finger MIZ-type containing 1 gene DOID:630 genetic disease ISO RGD:1323172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26522984|PMID:28492532|PMID:30639322 8903562 Zmiz1 zinc finger MIZ-type containing 1 gene DOID:9001002 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES ISO RGD:1323172 D RGD:7240710 20200115 OMIM 8903562 Zmiz1 zinc finger MIZ-type containing 1 gene DOID:9001002 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES ISO RGD:1323172 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | ClinVar Annotator: match by term: ZMIZ1-related condition PMID:25741868|PMID:28492532|PMID:29758562|PMID:30639322 8903562 Zmiz1 zinc finger MIZ-type containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323172 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:30639322 8903562 Zmiz1 zinc finger MIZ-type containing 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24836286 8903562 Zmiz1 zinc finger MIZ-type containing 1 gene DOID:9008582 Developmental Disease ISO RGD:1323172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8903601 Sap130 Sin3A associated protein 130 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1606502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8903601 Sap130 Sin3A associated protein 130 gene DOID:1682 congenital heart disease ISO RGD:1332063 D RGD:9068941 20220825 MouseDO 8903601 Sap130 Sin3A associated protein 130 gene DOID:630 genetic disease ISO RGD:1606502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903601 Sap130 Sin3A associated protein 130 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1332063 D RGD:9068941 20220825 MouseDO OMIM:241550 | OMIM:614435 8903601 Sap130 Sin3A associated protein 130 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1606502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530678 8903640 Tmem240 transmembrane protein 240 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8903640 Tmem240 transmembrane protein 240 gene DOID:0050972 spinocerebellar ataxia type 21 ISO RGD:1603247 D RGD:7240710 20180130 OMIM 8903640 Tmem240 transmembrane protein 240 gene DOID:0050972 spinocerebellar ataxia type 21 ISO RGD:1603247 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 PMID:11160961|PMID:25070513|PMID:25741868|PMID:28492532|PMID:30522958|PMID:33851480 8903640 Tmem240 transmembrane protein 240 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603247 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8903640 Tmem240 transmembrane protein 240 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8903640 Tmem240 transmembrane protein 240 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8903640 Tmem240 transmembrane protein 240 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8903640 Tmem240 transmembrane protein 240 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8903640 Tmem240 transmembrane protein 240 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8903640 Tmem240 transmembrane protein 240 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8903640 Tmem240 transmembrane protein 240 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8903640 Tmem240 transmembrane protein 240 gene DOID:630 genetic disease ISO RGD:1603247 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25070513|PMID:25741868|PMID:28492532|PMID:30184469|PMID:30522958 8903640 Tmem240 transmembrane protein 240 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25070513|PMID:25741868|PMID:28492532 8903640 Tmem240 transmembrane protein 240 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8903640 Tmem240 transmembrane protein 240 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8903647 Heg1 heart development protein with EGF like domains 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1603204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8903647 Heg1 heart development protein with EGF like domains 1 gene DOID:630 genetic disease ISO RGD:1603204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903647 Heg1 heart development protein with EGF like domains 1 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1603204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 8903647 Heg1 heart development protein with EGF like domains 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8903647 Heg1 heart development protein with EGF like domains 1 gene DOID:9270 alkaptonuria ISO RGD:1603204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8903679 Fuca1 alpha-L-fucosidase 1 gene DOID:1059 intellectual disability ISO RGD:735673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10094192|PMID:25741868|PMID:28492532|PMID:33266441|PMID:7581404|PMID:8401503 8903679 Fuca1 alpha-L-fucosidase 1 gene DOID:14500 fucosidosis ISO RGD:735673 D RGD:7240710 20180130 OMIM 8903679 Fuca1 alpha-L-fucosidase 1 gene DOID:14500 fucosidosis ISO RGD:735673 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FUCA1-related condition | ClinVar Annotator: match by term: Fucosidosis PMID:10094192|PMID:10496076|PMID:1214294|PMID:12408193|PMID:1281988|PMID:16199547|PMID:17427030|PMID:17576681|PMID:2012122|PMID:23210910|PMID:24033266|PMID:24767253|PMID:25640679|PMID:25741868|PMID:2642067|PMID:26515723|PMID:27706744|PMID:28097321|PMID:28492532|PMID:30109123|PMID:31064022|PMID:31618753|PMID:31980526|PMID:33266441|PMID:36082656|PMID:7581404|PMID:7815431|PMID:8097260|PMID:8401503|PMID:8504303|PMID:8739734|PMID:9039984|PMID:9536098|PMID:9762612 8903679 Fuca1 alpha-L-fucosidase 1 gene DOID:630 genetic disease ISO RGD:735673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8903679 Fuca1 alpha-L-fucosidase 1 gene DOID:8947 diabetic retinopathy ISO RGD:2636 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased activity:retina PMID:10353622|REF_RGD_ID:2315932 8903679 Fuca1 alpha-L-fucosidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735673 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased activity;urine PMID:8343614|REF_RGD_ID:2315943 8903679 Fuca1 alpha-L-fucosidase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1553501 D RGD:9068941 20200609 RGD PMID:3924473|REF_RGD_ID:2315947 8903679 Fuca1 alpha-L-fucosidase 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:735673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:17692550|PMID:23465862|PMID:28492532|PMID:9817922 8903679 Fuca1 alpha-L-fucosidase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:735673 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10094192|PMID:16199547|PMID:25741868|PMID:28097321|PMID:28492532 8903679 Fuca1 alpha-L-fucosidase 1 gene DOID:9351 diabetes mellitus ISO RGD:735673 D RGD:9068941 20200609 RGD protein:decreased activity:blood platelets PMID:3609421|REF_RGD_ID:2315945 8903679 Fuca1 alpha-L-fucosidase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735673 D RGD:9068941 20200609 RGD protein:increased activity:serum PMID:16176171|REF_RGD_ID:2315931 8903679 Fuca1 alpha-L-fucosidase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735673 D RGD:9068941 20200609 RGD protein:decreased activity:plasma PMID:7304074|REF_RGD_ID:2315949 8903690 Snu13 small nuclear ribonucleoprotein 13 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1347136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8903690 Snu13 small nuclear ribonucleoprotein 13 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1347136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8903703 Slc39a9 solute carrier family 39 member 9 gene DOID:630 genetic disease ISO RGD:1322587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903718 Rnase6 ribonuclease A family member k6 gene DOID:3602 toxic encephalopathy ISO RGD:1353772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8903718 Rnase6 ribonuclease A family member k6 gene DOID:409 liver disease ISO RGD:1353772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8903718 Rnase6 ribonuclease A family member k6 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1353772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8903718 Rnase6 ribonuclease A family member k6 gene DOID:630 genetic disease ISO RGD:1353772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903718 Rnase6 ribonuclease A family member k6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353772 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8903725 Tex261 testis expressed 261 gene DOID:543 dystonia ISO RGD:1346300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8903725 Tex261 testis expressed 261 gene DOID:630 genetic disease ISO RGD:1346300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903725 Tex261 testis expressed 261 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1346300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8903751 Spata1 spermatogenesis associated 1 gene DOID:630 genetic disease ISO RGD:1353083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903774 Ttc23l tetratricopeptide repeat domain 23 like gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1603175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 8903774 Ttc23l tetratricopeptide repeat domain 23 like gene DOID:630 genetic disease ISO RGD:1603175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903774 Ttc23l tetratricopeptide repeat domain 23 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8903845 Cfap418 cilia and flagella associated protein 418 gene DOID:0050572 cone-rod dystrophy ISO RGD:1606135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive 8903845 Cfap418 cilia and flagella associated protein 418 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1606135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 8903845 Cfap418 cilia and flagella associated protein 418 gene DOID:0081010 Bardet-Biedl syndrome 21 ISO RGD:1606135 D RGD:7240710 20190315 OMIM 8903845 Cfap418 cilia and flagella associated protein 418 gene DOID:0081010 Bardet-Biedl syndrome 21 ISO RGD:1606135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 21 PMID:22177090|PMID:25515582|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532|PMID:29127258|PMID:30029497|PMID:31456290 8903845 Cfap418 cilia and flagella associated protein 418 gene DOID:0111022 cone-rod dystrophy 16 ISO RGD:1606135 D RGD:7240710 20180130 OMIM 8903845 Cfap418 cilia and flagella associated protein 418 gene DOID:0111022 cone-rod dystrophy 16 ISO RGD:1606135 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: CFAP418-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 16 | ClinVar Annotator: match by term: Retinitis pigmentosa 64 PMID:16199547|PMID:22177090|PMID:25515582|PMID:25741868|PMID:25802487|PMID:26355662|PMID:26854863|PMID:26865426|PMID:27008867|PMID:28492532|PMID:29127258|PMID:29843741|PMID:30029497|PMID:31456290|PMID:34906470 8903845 Cfap418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22177090|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532 8903845 Cfap418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22177090|PMID:25515582|PMID:25741868|PMID:26355662|PMID:26854863|PMID:27008867|PMID:28492532|PMID:30029497|PMID:31456290 8903845 Cfap418 cilia and flagella associated protein 418 gene DOID:10584 retinitis pigmentosa ISO RGD:1606135 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22177090|PMID:25515582|PMID:25741868|PMID:25802487|PMID:26355662|PMID:26854863|PMID:26865426|PMID:27008867|PMID:28492532|PMID:30029497|PMID:31456290|PMID:34906470 8903845 Cfap418 cilia and flagella associated protein 418 gene DOID:8501 fundus dystrophy ISO RGD:1606135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 8903862 Neurog2 neurogenin 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1319191 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:25741868 8903862 Neurog2 neurogenin 2 gene DOID:12271 aniridia ISO RGD:1319191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 8903862 Neurog2 neurogenin 2 gene DOID:630 genetic disease ISO RGD:1319191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903879 Pgs1 phosphatidylglycerophosphate synthase 1 gene DOID:630 genetic disease ISO RGD:1606322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903879 Pgs1 phosphatidylglycerophosphate synthase 1 gene DOID:9002189 High Myopia ISO RGD:1606322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8903893 Mvp major vault protein gene DOID:0060019 coronin-1A deficiency ISO RGD:732476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8903893 Mvp major vault protein gene DOID:0060041 autism spectrum disorder ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8903893 Mvp major vault protein gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732476 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8903893 Mvp major vault protein gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:732476 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8903893 Mvp major vault protein gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:732476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8903893 Mvp major vault protein gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732476 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8903893 Mvp major vault protein gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732476 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8903893 Mvp major vault protein gene DOID:12849 autistic disorder ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8903893 Mvp major vault protein gene DOID:5419 schizophrenia ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8903893 Mvp major vault protein gene DOID:630 genetic disease ISO RGD:732476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8903893 Mvp major vault protein gene DOID:8398 osteoarthritis ISO RGD:732476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8903893 Mvp major vault protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8903893 Mvp major vault protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8903893 Mvp major vault protein gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:732476 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8903893 Mvp major vault protein gene DOID:9007283 Familial Infantile Convulsions and Paroxysmal Choreoathetosis ISO RGD:732476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial PMID:25741868 8903927 Fbf1 Fas binding factor 1 gene DOID:630 genetic disease ISO RGD:1321696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903964 Racgap1 Rac GTPase activating protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1314228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8903964 Racgap1 Rac GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1314228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903964 Racgap1 Rac GTPase activating protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1314228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8903964 Racgap1 Rac GTPase activating protein 1 gene DOID:9002225 Congenital Dyserythropoietic Anemia Type IIIb ISO RGD:1314228 D RGD:7240710 20220330 OMIM 8903964 Racgap1 Rac GTPase activating protein 1 gene DOID:9002225 Congenital Dyserythropoietic Anemia Type IIIb ISO RGD:1314228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive PMID:34818416|PMID:36200420 8903999 Susd4 sushi domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1605987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8903999 Susd4 sushi domain containing 4 gene DOID:630 genetic disease ISO RGD:1605987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8903999 Susd4 sushi domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8904022 Shld1 shieldin complex subunit 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1606148 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8904022 Shld1 shieldin complex subunit 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1606148 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8904038 Tex101 testis expressed 101 gene DOID:5419 schizophrenia ISO RGD:1354475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8904038 Tex101 testis expressed 101 gene DOID:630 genetic disease ISO RGD:1354475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904048 Iqcd IQ motif containing D gene DOID:630 genetic disease ISO RGD:1346446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313199 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0080600 COVID-19 ISO RGD:1313199 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0110391 retinitis pigmentosa 31 ISO RGD:1313199 D RGD:7240710 20180130 OMIM 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0110391 retinitis pigmentosa 31 ISO RGD:1313199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 31 | ClinVar Annotator: match by term: TOPORS-related condition PMID:16189705|PMID:17924349|PMID:18509552|PMID:23950152|PMID:25741868|PMID:26720483|PMID:28076437|PMID:28492532 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:10283 prostate cancer ISO RGD:1313199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:10584 retinitis pigmentosa ISO RGD:1313199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18509552|PMID:19373681|PMID:22334370|PMID:25741868|PMID:28041643|PMID:28166811|PMID:28492532|PMID:30718709 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:10584 retinitis pigmentosa ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18509552|PMID:19373681|PMID:22334370|PMID:25741868|PMID:28041643|PMID:28492532|PMID:30718709 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:3347 osteosarcoma ISO RGD:1313199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:8501 fundus dystrophy ISO RGD:1313199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17924349|PMID:18509552|PMID:22581970|PMID:23950152|PMID:26155838|PMID:26872967|PMID:28076437|PMID:28453362|PMID:28492532 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313199 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:9834 hyperopia ISO RGD:1313199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypermetropia PMID:25741868|PMID:26720483|PMID:28492532 8904057 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase gene DOID:9870 galactosemia ISO RGD:1313199 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8904063 Slc25a40 solute carrier family 25 member 40 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1607018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8904063 Slc25a40 solute carrier family 25 member 40 gene DOID:630 genetic disease ISO RGD:1607018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904082 Gpr179 G protein-coupled receptor 179 gene DOID:0050534 congenital stationary night blindness ISO RGD:1601901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532 8904082 Gpr179 G protein-coupled receptor 179 gene DOID:0110869 congenital stationary night blindness 1E ISO RGD:1601901 D RGD:7240710 20180130 OMIM 8904082 Gpr179 G protein-coupled receptor 179 gene DOID:0110869 congenital stationary night blindness 1E ISO RGD:1601901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1E | ClinVar Annotator: match by term: GPR179-related condition PMID:22325361|PMID:22325362|PMID:23714322|PMID:24033266|PMID:24222301|PMID:25741868|PMID:28041643|PMID:28492532|PMID:30718709 8904082 Gpr179 G protein-coupled receptor 179 gene DOID:10584 retinitis pigmentosa ISO RGD:1601901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532|PMID:30718709 8904082 Gpr179 G protein-coupled receptor 179 gene DOID:630 genetic disease ISO RGD:1601901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8904082 Gpr179 G protein-coupled receptor 179 gene DOID:8501 fundus dystrophy ISO RGD:1601901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22325361|PMID:22325362|PMID:24033266|PMID:25741868|PMID:28041643|PMID:28492532 8904082 Gpr179 G protein-coupled receptor 179 gene DOID:9000386 Polyomavirus Infections ISO RGD:1601901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25463609 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:0060252 sclerocornea ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sclerocornea 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:0070168 spermatogenic failure 3 ISO RGD:1350418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:33508233 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia PMID:25741868|PMID:28492532 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24875647|PMID:25741868|PMID:28492532 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:0112269 primary ovarian insufficiency 18 ISO RGD:1350418 D RGD:7240710 20210303 OMIM 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:0112269 primary ovarian insufficiency 18 ISO RGD:1350418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 18 PMID:33508233 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:0112270 spermatogenic failure 52 ISO RGD:1350418 D RGD:7240710 20210303 OMIM 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:0112270 spermatogenic failure 52 ISO RGD:1350418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 52 PMID:33508233 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:10629 microphthalmia ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos PMID:25741868|PMID:28492532 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:14227 azoospermia ISO RGD:1350418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:33508233 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:630 genetic disease ISO RGD:1350418 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:83 cataract ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cataract 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:9007101 Isolated Microphthalmia with Cataract 2 ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 8904096 CUNH14orf39 chromosome unknown C14orf39 homolog gene DOID:9650 pathologic nystagmus ISO RGD:1350418 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nystagmus 8904119 Atrx ATRX chromatin remodeler gene DOID:0050581 brachydactyly ISO RGD:1553098 D RGD:9068941 20200609 RGD PMID:23892236|REF_RGD_ID:9586033 8904119 Atrx ATRX chromatin remodeler gene DOID:0050908 myelodysplastic syndrome ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19157545 8904119 Atrx ATRX chromatin remodeler gene DOID:0060118 thoracic disease ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 8904119 Atrx ATRX chromatin remodeler gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8904119 Atrx ATRX chromatin remodeler gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8904119 Atrx ATRX chromatin remodeler gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1605736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:28492532 8904119 Atrx ATRX chromatin remodeler gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1605736 D RGD:7240710 20180130 OMIM 8904119 Atrx ATRX chromatin remodeler gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1605736 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1 | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1 PMID:10398234|PMID:10398237|PMID:10632111|PMID:10995512|PMID:11050622|PMID:12116232|PMID:15508018|PMID:15591283|PMID:16125058|PMID:16813605|PMID:16955409|PMID:18409179|PMID:18414213|PMID:20500465|PMID:21267006|PMID:23681356|PMID:24289169|PMID:24327140|PMID:24690944|PMID:24728327|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25590979|PMID:25741868|PMID:25936994|PMID:26350204|PMID:26467025|PMID:28027854|PMID:28293299|PMID:28371217|PMID:28492532|PMID:29706636|PMID:31130284|PMID:3239563|PMID:32595695|PMID:32712949|PMID:35709690|PMID:36292677|PMID:6682021|PMID:6711605|PMID:7697714|PMID:8630485|PMID:8968741|PMID:9244431|PMID:9326931 8904119 Atrx ATRX chromatin remodeler gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1605736 D RGD:7240710 20180130 OMIM 8904119 Atrx ATRX chromatin remodeler gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1605736 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome PMID:10204841|PMID:10398237|PMID:10417298|PMID:10632111|PMID:10660327|PMID:10995512|PMID:11050622|PMID:12116232|PMID:12673795|PMID:15508018|PMID:15591283|PMID:16125058|PMID:16199547|PMID:16763962|PMID:16813605|PMID:16935875|PMID:16955409|PMID:17576681|PMID:17579672|PMID:17609377|PMID:18409179|PMID:18414213|PMID:19291773|PMID:20500465|PMID:20655035|PMID:21421568|PMID:21505078|PMID:22129561|PMID:22659343|PMID:22796527|PMID:22995991|PMID:23352163|PMID:23681356|PMID:24082139|PMID:24289169|PMID:24327140|PMID:24690944|PMID:24728327|PMID:24759409|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25326637|PMID:25590979|PMID:25640679|PMID:25644381|PMID:25741868|PMID:25936994|PMID:26350204|PMID:26467025|PMID:26539891|PMID:28027854|PMID:28293299|PMID:28371217|PMID:28492530|PMID:28492532|PMID:28708303|PMID:29158550|PMID:29304373|PMID:29602769|PMID:29706636|PMID:29790871|PMID:29910053|PMID:31130284|PMID:32170002|PMID:3239563|PMID:32595695|PMID:32712949|PMID:35229910|PMID:35709690|PMID:35904121|PMID:36292677|PMID:3658675|PMID:6682021|PMID:6711605|PMID:7506096|PMID:7697714|PMID:7726225|PMID:8630485|PMID:8644709|PMID:8968741|PMID:9244431|PMID:9326931|PMID:9536098|PMID:9598720 8904119 Atrx ATRX chromatin remodeler gene DOID:0112125 alpha-thalassemia myelodysplasia syndrome ISO RGD:1605736 D RGD:7240710 20180130 OMIM 8904119 Atrx ATRX chromatin remodeler gene DOID:0112125 alpha-thalassemia myelodysplasia syndrome ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome PMID:10995512|PMID:12858175|PMID:16955409|PMID:20500465|PMID:24327140|PMID:25590979|PMID:25741868|PMID:28492532|PMID:31130284|PMID:9326931 8904119 Atrx ATRX chromatin remodeler gene DOID:10534 stomach cancer ISO RGD:69092 D RGD:9068941 20220311 RGD PMID:27006499|REF_RGD_ID:11354809 8904119 Atrx ATRX chromatin remodeler gene DOID:1059 intellectual disability ISO RGD:1605736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:10398237|PMID:10632111|PMID:15508018|PMID:15591283|PMID:18409179|PMID:18414213|PMID:23681356|PMID:24690944|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28371217|PMID:28492532|PMID:3239563|PMID:7697714 8904119 Atrx ATRX chromatin remodeler gene DOID:10907 microcephaly ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 8904119 Atrx ATRX chromatin remodeler gene DOID:1115 sarcoma ISO RGD:1605736 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:26428317|REF_RGD_ID:11536196 8904119 Atrx ATRX chromatin remodeler gene DOID:11383 cryptorchidism ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: undescended testicle PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 8904119 Atrx ATRX chromatin remodeler gene DOID:12849 autistic disorder ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8904119 Atrx ATRX chromatin remodeler gene DOID:12858 Huntington's disease ISO RGD:1553098 D RGD:9068941 20200609 RGD PMID:22240898|REF_RGD_ID:11040584 8904119 Atrx ATRX chromatin remodeler gene DOID:1529 penile disease ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 8904119 Atrx ATRX chromatin remodeler gene DOID:169 neuroendocrine tumor ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 8904119 Atrx ATRX chromatin remodeler gene DOID:1793 pancreatic cancer ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 8904119 Atrx ATRX chromatin remodeler gene DOID:1799 islet cell tumor disease_progression ISO RGD:1605736 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas: PMID:24148618|REF_RGD_ID:9586032 8904119 Atrx ATRX chromatin remodeler gene DOID:1838 Menkes disease ISO RGD:1605736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 8904119 Atrx ATRX chromatin remodeler gene DOID:1909 melanoma disease_progression ISO RGD:1605736 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:24468746|REF_RGD_ID:9586028 8904119 Atrx ATRX chromatin remodeler gene DOID:1923 disorder of sexual development ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 8904119 Atrx ATRX chromatin remodeler gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor PMID:18414213|PMID:22995991|PMID:24082139|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:7697714|PMID:8968741 8904119 Atrx ATRX chromatin remodeler gene DOID:3068 glioblastoma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma multiforme, somatic 8904119 Atrx ATRX chromatin remodeler gene DOID:3068 glioblastoma disease_progression ISO RGD:1605736 D RGD:9068941 20200609 RGD PMID:27478330|REF_RGD_ID:13442489 8904119 Atrx ATRX chromatin remodeler gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1605736 D RGD:9068941 20200609 RGD PMID:24810474|REF_RGD_ID:9586026 8904119 Atrx ATRX chromatin remodeler gene DOID:3069 malignant astrocytoma severity ISO RGD:1605736 D RGD:9068941 20200609 RGD PMID:23765250|REF_RGD_ID:11040585 8904119 Atrx ATRX chromatin remodeler gene DOID:3070 high grade glioma ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583981|PMID:24705251 8904119 Atrx ATRX chromatin remodeler gene DOID:3070 high grade glioma ISO RGD:1605736 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:23104868|REF_RGD_ID:11040587 8904119 Atrx ATRX chromatin remodeler gene DOID:3078 anaplastic astrocytoma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma, anaplastic PMID:18414213|PMID:22995991|PMID:24082139|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:7697714|PMID:8968741 8904119 Atrx ATRX chromatin remodeler gene DOID:3181 oligodendroglioma ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodendroglioma 8904119 Atrx ATRX chromatin remodeler gene DOID:3347 osteosarcoma ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 8904119 Atrx ATRX chromatin remodeler gene DOID:3376 bone osteosarcoma ISO RGD:1605736 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:24690944|PMID:25741868|PMID:28371217|PMID:28492532|PMID:7697714 8904119 Atrx ATRX chromatin remodeler gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1605736 D RGD:9068941 20210618 RGD PMID:31374064|REF_RGD_ID:127285382 8904119 Atrx ATRX chromatin remodeler gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1605736 D RGD:9068941 20210618 RGD PMID:31374064|REF_RGD_ID:127285382 8904119 Atrx ATRX chromatin remodeler gene DOID:3948 adrenocortical carcinoma ISO RGD:1605736 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:15591283|PMID:18409179|PMID:23681356|PMID:28492532 8904119 Atrx ATRX chromatin remodeler gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:1605736 D RGD:9068941 20210618 RGD PMID:29748005|PMID:31374064|REF_RGD_ID:127285382|REF_RGD_ID:127285383 8904119 Atrx ATRX chromatin remodeler gene DOID:5419 schizophrenia ISO RGD:1605736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8904119 Atrx ATRX chromatin remodeler gene DOID:630 genetic disease ISO RGD:1605736 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10204841|PMID:10398234|PMID:10398237|PMID:10632111|PMID:10660327|PMID:10995512|PMID:11050622|PMID:12673795|PMID:1505078|PMID:15508018|PMID:15591283|PMID:16813605|PMID:16935875|PMID:16955409|PMID:17576681|PMID:18409179|PMID:18414213|PMID:20500465|PMID:21421568|PMID:21505078|PMID:22995991|PMID:23352163|PMID:23681356|PMID:24082139|PMID:24327140|PMID:24728327|PMID:24805811|PMID:25167861|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25936994|PMID:26350204|PMID:26467025|PMID:28293299|PMID:28492530|PMID:28492532|PMID:29304373|PMID:29602769|PMID:29910053|PMID:31130284|PMID:3239563|PMID:35444965|PMID:35904121|PMID:6711605|PMID:7697714|PMID:7726225|PMID:8968741|PMID:9326931|PMID:9536098 8904119 Atrx ATRX chromatin remodeler gene DOID:769 neuroblastoma ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334666|PMID:26523776 8904119 Atrx ATRX chromatin remodeler gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605736 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8904119 Atrx ATRX chromatin remodeler gene DOID:9005603 Muscle Hypotonia ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:10995512|PMID:21505078|PMID:22129561|PMID:25741868|PMID:28492532 8904119 Atrx ATRX chromatin remodeler gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 8904119 Atrx ATRX chromatin remodeler gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1605736 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T1621M (human) PMID:12116232|REF_RGD_ID:11040586 8904119 Atrx ATRX chromatin remodeler gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor severity ISO RGD:1605736 D RGD:9068941 20210625 RGD PMID:26026117|REF_RGD_ID:127285385 8904119 Atrx ATRX chromatin remodeler gene DOID:9006257 Growth Disorders ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 8904119 Atrx ATRX chromatin remodeler gene DOID:9006534 Nervous System Malformations ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8904119 Atrx ATRX chromatin remodeler gene DOID:9006608 Lung Carcinoid Tumors disease_progression ISO RGD:1605736 D RGD:9068941 20210625 RGD protein:decreased expression:nucleus, lung PMID:31499081|REF_RGD_ID:127285379 8904119 Atrx ATRX chromatin remodeler gene DOID:9007661 Dwarfism ISO RGD:1605736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 8904119 Atrx ATRX chromatin remodeler gene DOID:9008086 Developmental Disabilities ISO RGD:1605736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26539891|PMID:28492532|PMID:29790871 8904119 Atrx ATRX chromatin remodeler gene DOID:9008582 Developmental Disease ISO RGD:1605736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26467025|PMID:28492532 8904119 Atrx ATRX chromatin remodeler gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1605736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19291773 8904162 Snw1 SNW domain containing 1 gene DOID:11446 sciatic neuropathy ISO RGD:1561926 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:23389663|REF_RGD_ID:11035242 8904162 Snw1 SNW domain containing 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1321977 D RGD:9068941 20200609 RGD DNA:snp:intron: T>A (human) (rs1477261) PMID:19377877|REF_RGD_ID:2683526 8904162 Snw1 SNW domain containing 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1321977 D RGD:9068941 20200609 RGD DNA:snp:intron: T>A (human) (rs1477261) PMID:20056645|REF_RGD_ID:11035249 8904162 Snw1 SNW domain containing 1 gene DOID:3459 breast carcinoma severity ISO RGD:1321977 D RGD:9068941 20200609 RGD protein:increased expression:breast (human) PMID:24150787|REF_RGD_ID:11035252 8904162 Snw1 SNW domain containing 1 gene DOID:630 genetic disease ISO RGD:1321977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904162 Snw1 SNW domain containing 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1321977 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:23696020|REF_RGD_ID:11035253 8904162 Snw1 SNW domain containing 1 gene DOID:9000998 Brain Injuries ISO RGD:1561926 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (rat) PMID:22965216|REF_RGD_ID:11035237 8904162 Snw1 SNW domain containing 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:1561926 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:25074585|REF_RGD_ID:11035254 8904183 Ftsj3 FtsJ RNA 2'-O-methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1316109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904217 Pax4 paired box 4 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1347682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:11723072|PMID:15509590|PMID:15596543|PMID:16423628|PMID:18414213|PMID:21263211|PMID:25741868|PMID:25951767|PMID:27334367|PMID:28492532|PMID:31264968|PMID:32801813|PMID:33031055 8904217 Pax4 paired box 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1347682 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11723072|PMID:15596543|PMID:16423628|PMID:18414213|PMID:21263211|PMID:25741868|PMID:25951767|PMID:27334367|PMID:28492532|PMID:31264968|PMID:32801813|PMID:33031055 8904217 Pax4 paired box 4 gene DOID:0111107 maturity-onset diabetes of the young type 9 ISO RGD:1347682 D RGD:7240710 20240221 OMIM 8904217 Pax4 paired box 4 gene DOID:0111107 maturity-onset diabetes of the young type 9 ISO RGD:1347682 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 9 PMID:15509590|PMID:17426099|PMID:25741868|PMID:28492532 8904217 Pax4 paired box 4 gene DOID:1837 diabetic ketoacidosis ISO RGD:1347682 D RGD:7240710 20240221 OMIM 8904217 Pax4 paired box 4 gene DOID:1837 diabetic ketoacidosis ISO RGD:1347682 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone | ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to PMID:15509590|PMID:17576681|PMID:18414213|PMID:25741868|PMID:28492532|PMID:9536098 8904217 Pax4 paired box 4 gene DOID:1909 melanoma ISO RGD:1347682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18949370 8904217 Pax4 paired box 4 gene DOID:4195 hyperglycemia ISO RGD:1347682 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperglycemia PMID:15509590|PMID:25741868|PMID:28492532 8904217 Pax4 paired box 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8904217 Pax4 paired box 4 gene DOID:630 genetic disease ISO RGD:1347682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8904217 Pax4 paired box 4 gene DOID:9351 diabetes mellitus ISO RGD:1347682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:15509590|PMID:18414213|PMID:25741868|PMID:28492532 8904217 Pax4 paired box 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347682 D RGD:7240710 20240221 OMIM 8904217 Pax4 paired box 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11723072|PMID:15596543|PMID:16423628|PMID:18414213|PMID:21263211|PMID:25741868|PMID:25951767|PMID:27334367|PMID:28492532|PMID:31264968|PMID:32801813|PMID:33031055 8904217 Pax4 paired box 4 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1347682 D RGD:9068941 20200609 RGD DNA:mutation: :p.R121W (human) PMID:12604352|REF_RGD_ID:2311635 8904217 Pax4 paired box 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8904217 Pax4 paired box 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347682 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R133W (human) PMID:15509590|REF_RGD_ID:2311634 8904217 Pax4 paired box 4 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1347682 D RGD:9068941 20200609 RGD PMID:15834548|REF_RGD_ID:2311633 8904230 Ralbp1 ralA binding protein 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:737281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8904230 Ralbp1 ralA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:737281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8904230 Ralbp1 ralA binding protein 1 gene DOID:10763 hypertension ISO RGD:737281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23821548 8904230 Ralbp1 ralA binding protein 1 gene DOID:11054 urinary bladder cancer ISO RGD:737281 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:17606711|REF_RGD_ID:2324917 8904230 Ralbp1 ralA binding protein 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:737281 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:22509328|REF_RGD_ID:13792559 8904230 Ralbp1 ralA binding protein 1 gene DOID:543 dystonia ISO RGD:737281 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8904230 Ralbp1 ralA binding protein 1 gene DOID:630 genetic disease ISO RGD:737281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904230 Ralbp1 ralA binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8904230 Ralbp1 ralA binding protein 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:737281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8904259 Ccdc3 coiled-coil domain containing 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8904259 Ccdc3 coiled-coil domain containing 3 gene DOID:1070 primary open angle glaucoma ISO RGD:1351886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:28492532 8904259 Ccdc3 coiled-coil domain containing 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 8904259 Ccdc3 coiled-coil domain containing 3 gene DOID:630 genetic disease ISO RGD:1351886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904270 Ginm1 glycosylated integral membrane protein 1 gene DOID:630 genetic disease ISO RGD:1320268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904289 Mlf1 myeloid leukemia factor 1 gene DOID:0080600 COVID-19 ISO RGD:1315708 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8904289 Mlf1 myeloid leukemia factor 1 gene DOID:630 genetic disease ISO RGD:1315708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904289 Mlf1 myeloid leukemia factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8904318 Ticrr TOPBP1 interacting checkpoint and replication regulator gene DOID:0080600 COVID-19 ISO RGD:1602448 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8904318 Ticrr TOPBP1 interacting checkpoint and replication regulator gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1602448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8904318 Ticrr TOPBP1 interacting checkpoint and replication regulator gene DOID:2717 Bloom syndrome ISO RGD:1602448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8904318 Ticrr TOPBP1 interacting checkpoint and replication regulator gene DOID:630 genetic disease ISO RGD:1602448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904318 Ticrr TOPBP1 interacting checkpoint and replication regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1602448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8904318 Ticrr TOPBP1 interacting checkpoint and replication regulator gene DOID:9250 acrocallosal syndrome ISO RGD:1602448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome 8904318 Ticrr TOPBP1 interacting checkpoint and replication regulator gene DOID:9256 colorectal cancer ISO RGD:1602448 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8904349 Tent5b terminal nucleotidyltransferase 5B gene DOID:630 genetic disease ISO RGD:1344774 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904355 Ostc oligosaccharyltransferase complex non-catalytic subunit gene DOID:0080600 COVID-19 ISO RGD:1607011 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8904355 Ostc oligosaccharyltransferase complex non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1607011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904367 Slc12a7 solute carrier family 12 member 7 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 8904367 Slc12a7 solute carrier family 12 member 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1348814 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8904367 Slc12a7 solute carrier family 12 member 7 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1348814 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 8904367 Slc12a7 solute carrier family 12 member 7 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1348814 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8904367 Slc12a7 solute carrier family 12 member 7 gene DOID:11054 urinary bladder cancer ISO RGD:1348814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8904367 Slc12a7 solute carrier family 12 member 7 gene DOID:630 genetic disease ISO RGD:1348814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904424 Erlec1 endoplasmic reticulum lectin 1 gene DOID:13580 cholestasis ISO RGD:1315163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8904424 Erlec1 endoplasmic reticulum lectin 1 gene DOID:630 genetic disease ISO RGD:1315163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904424 Erlec1 endoplasmic reticulum lectin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1315163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8904424 Erlec1 endoplasmic reticulum lectin 1 gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:1315163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hapsburg jaw 8904441 Cnbd2 cyclic nucleotide binding domain containing 2 gene DOID:630 genetic disease ISO RGD:1323261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904442 Ccdc85a coiled-coil domain containing 85A gene DOID:630 genetic disease ISO RGD:1605892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904466 Frrs1l ferric chelate reductase 1 like gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1346527 D RGD:7240710 20190315 OMIM 8904466 Frrs1l ferric chelate reductase 1 like gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1346527 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37 PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21147040|PMID:22406018|PMID:25741868|PMID:27236917|PMID:27239025|PMID:28492532|PMID:28675162|PMID:30525197|PMID:30692144|PMID:32860008|PMID:32928027|PMID:9536098 8904466 Frrs1l ferric chelate reductase 1 like gene DOID:1826 epilepsy ISO RGD:1346527 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:21147040|PMID:25741868|PMID:27236917|PMID:27239025|PMID:28492532|PMID:32860008|PMID:32928027 8904466 Frrs1l ferric chelate reductase 1 like gene DOID:630 genetic disease ISO RGD:1346527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8904476 Metap2 methionyl aminopeptidase 2 gene DOID:630 genetic disease ISO RGD:732103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904505 Fancf FA complementation group F gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1345063 D RGD:9068941 20200609 RGD mRNA:decreased expression:tongue: PMID:17409780|REF_RGD_ID:11049143 8904505 Fancf FA complementation group F gene DOID:0111088 Fanconi anemia complementation group F ISO RGD:1345063 D RGD:7240710 20180130 OMIM 8904505 Fancf FA complementation group F gene DOID:0111088 Fanconi anemia complementation group F ISO RGD:1345063 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group F PMID:10615118|PMID:11063725|PMID:12649160|PMID:15262960|PMID:16084127|PMID:16774934|PMID:17082180|PMID:17924555|PMID:18271933|PMID:22778927|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26033879|PMID:27714961|PMID:28102861|PMID:28259476|PMID:28492532|PMID:28678401|PMID:28687356|PMID:29368431|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30680046|PMID:30995915|PMID:31288759|PMID:31882575|PMID:34117267|PMID:9382107 8904505 Fancf FA complementation group F gene DOID:1059 intellectual disability ISO RGD:1345063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8904505 Fancf FA complementation group F gene DOID:13636 Fanconi anemia ISO RGD:1345063 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10615118|PMID:16084127|PMID:16774934|PMID:17924555|PMID:18271933|PMID:24728327|PMID:25741868|PMID:27714961|PMID:28259476|PMID:28492532|PMID:30256826|PMID:30262796|PMID:30995915|PMID:31882575|PMID:34117267|PMID:9382107 8904505 Fancf FA complementation group F gene DOID:13636 Fanconi anemia ISO RGD:1345063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10615118|PMID:11063725|PMID:12649160|PMID:15262960|PMID:16084127|PMID:16774934|PMID:17082180|PMID:17924555|PMID:18271933|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26033879|PMID:27714961|PMID:28102861|PMID:28259476|PMID:28492532|PMID:28678401|PMID:29368431|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30680046|PMID:30995915|PMID:31882575|PMID:34117267|PMID:9382107 8904505 Fancf FA complementation group F gene DOID:14566 disease of cellular proliferation susceptibility ISO RGD:2290337 D RGD:9068941 20200609 RGD PMID:21915857|REF_RGD_ID:11049141 8904505 Fancf FA complementation group F gene DOID:1612 breast cancer ISO RGD:1345063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532 8904505 Fancf FA complementation group F gene DOID:2394 ovarian cancer ISO RGD:1345063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 8904505 Fancf FA complementation group F gene DOID:2999 granulosa cell tumor disease_progression ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15574200|REF_RGD_ID:2298508 8904505 Fancf FA complementation group F gene DOID:2999 granulosa cell tumor susceptibility ISO RGD:2290337 D RGD:9068941 20200609 RGD PMID:21915857|REF_RGD_ID:11049141 8904505 Fancf FA complementation group F gene DOID:4943 adenocarcinoma in situ disease_progression ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:14647419|REF_RGD_ID:11049137 8904505 Fancf FA complementation group F gene DOID:5426 primary ovarian insufficiency ISO RGD:2290337 D RGD:9068941 20220825 MouseDO OMIM:300510 | OMIM:300511 | OMIM:300604 | OMIM:311360 | OMIM:608996 | OMIM:611548 | OMIM:612310 | OMIM:612964 | OMIM:615723 | OMIM:615724 8904505 Fancf FA complementation group F gene DOID:630 genetic disease ISO RGD:1345063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8904505 Fancf FA complementation group F gene DOID:9002762 Ovarian Neoplasms ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:ovary PMID:16418574|REF_RGD_ID:2290044 8904505 Fancf FA complementation group F gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18414472|REF_RGD_ID:2298507 8904505 Fancf FA complementation group F gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1345063 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15126331|REF_RGD_ID:2290045 8904511 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8904511 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:735625 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8904511 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8904511 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8904511 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:630 genetic disease ISO RGD:735625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904511 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:735625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8904511 Ascl2 achaete-scute family bHLH transcription factor 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8904518 Ttk TTK protein kinase gene DOID:0080600 COVID-19 ISO RGD:1313655 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8904518 Ttk TTK protein kinase gene DOID:11612 polycystic ovary syndrome ISO RGD:1313655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8904518 Ttk TTK protein kinase gene DOID:630 genetic disease ISO RGD:1313655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904518 Ttk TTK protein kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1313655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8904518 Ttk TTK protein kinase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1313655 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8904518 Ttk TTK protein kinase gene DOID:9003100 Pancreatic Neoplasms ISO RGD:1313655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic neoplasm PMID:20581473 8904518 Ttk TTK protein kinase gene DOID:9269 maple syrup urine disease ISO RGD:1313655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 8904550 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:0050753 cerebellar ataxia susceptibility ISO RGD:1319593 D RGD:9068941 20200609 RGD PMID:14556008|REF_RGD_ID:1599348 8904550 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:0060694 Cayman type cerebellar ataxia ISO RGD:1319593 D RGD:7240710 20180130 OMIM 8904550 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:0060694 Cayman type cerebellar ataxia ISO RGD:1319593 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cayman type cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29449188 8904550 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:13938 amenorrhea ISO RGD:1319593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8904550 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:543 dystonia ISO RGD:1309312 D RGD:9068941 20200609 RGD DNA:insertion:intron (rat) PMID:16246457|REF_RGD_ID:5133436 8904550 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:543 dystonia ISO RGD:1617620 D RGD:9068941 20200609 RGD DNA:insertions, deletion:intron, exons (mouse) PMID:14556008|REF_RGD_ID:1599348 8904550 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:630 genetic disease ISO RGD:1319593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904550 Atcay ATCAY kinesin light chain interacting caytaxin gene DOID:9004866 Ataxia ISO RGD:1617620 D RGD:9068941 20200609 RGD DNA:insertions, deletion:intron, exons (mouse) PMID:14556008|REF_RGD_ID:1599348 8904575 Syt11 synaptotagmin 11 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8904575 Syt11 synaptotagmin 11 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1343002 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 8904575 Syt11 synaptotagmin 11 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8904575 Syt11 synaptotagmin 11 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8904575 Syt11 synaptotagmin 11 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8904575 Syt11 synaptotagmin 11 gene DOID:1540 parathyroid carcinoma ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8904575 Syt11 synaptotagmin 11 gene DOID:5812 MHC class II deficiency ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8904575 Syt11 synaptotagmin 11 gene DOID:630 genetic disease ISO RGD:1343002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904575 Syt11 synaptotagmin 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8904583 Prss54 serine protease 54 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:3438752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8904583 Prss54 serine protease 54 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:3438752 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8904583 Prss54 serine protease 54 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:3438752 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8904583 Prss54 serine protease 54 gene DOID:630 genetic disease ISO RGD:3438752 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1616839 D RGD:9068941 20201211 RGD PMID:15670795|REF_RGD_ID:40902819 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:0080690 RASopathy ISO RGD:1345835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1345835 D RGD:9068941 20200609 RGD PMID:15567511|REF_RGD_ID:10395348 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1616839 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:hippocampus PMID:24315369|REF_RGD_ID:10395344 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:12858 Huntington's disease ISO RGD:1345835 D RGD:9068941 20200609 RGD PMID:11468270|PMID:15567511|REF_RGD_ID:10395345|REF_RGD_ID:10395348 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:12858 Huntington's disease ISO RGD:1616839 D RGD:9068941 20200609 RGD PMID:11468270|REF_RGD_ID:10395345 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:14330 Parkinson's disease ISO RGD:1345835 D RGD:9068941 20200609 RGD PMID:15567511|REF_RGD_ID:10395348 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:1824 status epilepticus ISO RGD:1345835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16492139 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:2043 hepatitis B disease_progression ISO RGD:1345835 D RGD:9068941 20201218 RGD PMID:11861827|REF_RGD_ID:40902828 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:3298 vaccinia severity ISO RGD:1616839 D RGD:9068941 20201211 RGD PMID:11967338|REF_RGD_ID:40902818 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:3298 vaccinia susceptibility ISO RGD:1616839 D RGD:9068941 20201211 RGD PMID:20943971|REF_RGD_ID:40902816 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345835 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:12675919|REF_RGD_ID:2301741 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:3402 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:630 genetic disease ISO RGD:1345835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32197074 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:1345835 D RGD:9068941 20200609 RGD PMID:19151623|REF_RGD_ID:10395347 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9001488 Human Influenza ISO RGD:1345835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1345835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868|PMID:32197074 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9003110 LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME ISO RGD:1345835 D RGD:7240710 20200715 OMIM 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9003110 LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME ISO RGD:1345835 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome PMID:25741868|PMID:28492532|PMID:32197074|PMID:33236446|PMID:33553620|PMID:35146068 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9004531 Cardiovirus Infections ISO RGD:1616839 D RGD:9068941 20201211 RGD PMID:21636578|REF_RGD_ID:40902809 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9007930 Dystonia 33 ISO RGD:1345835 D RGD:7240710 20220112 OMIM 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9007930 Dystonia 33 ISO RGD:1345835 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Dystonia 33 PMID:25741868|PMID:28492532|PMID:33236446|PMID:33866603|PMID:35146068 8904594 Eif2ak2 eukaryotic translation initiation factor 2 alpha kinase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1345835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32197074 8904614 Stim1 stromal interaction molecule 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8904614 Stim1 stromal interaction molecule 1 gene DOID:0060354 Stormorken syndrome ISO RGD:1315668 D RGD:7240710 20180130 OMIM 8904614 Stim1 stromal interaction molecule 1 gene DOID:0060354 Stormorken syndrome ISO RGD:1315668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:12623447|PMID:12745453|PMID:12944247|PMID:12944248|PMID:16199547|PMID:17576681|PMID:19420366|PMID:20876309|PMID:22190180|PMID:23332920|PMID:23851458|PMID:24033266|PMID:24492416|PMID:24570283|PMID:24591628|PMID:24619930|PMID:25044882|PMID:25326555|PMID:25577287|PMID:25640679|PMID:25741868|PMID:25918394|PMID:26184105|PMID:26255678|PMID:26436962|PMID:27066587|PMID:27239559|PMID:28492532|PMID:28624464|PMID:29237733|PMID:31844136|PMID:32098964|PMID:33468626|PMID:33628209|PMID:34498097|PMID:4085141|PMID:9536098 8904614 Stim1 stromal interaction molecule 1 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:1315668 D RGD:7240710 20190315 OMIM 8904614 Stim1 stromal interaction molecule 1 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:1315668 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 PMID:12623447|PMID:12745453|PMID:12944247|PMID:12944248|PMID:19420366|PMID:20876309|PMID:23332920|PMID:24033266|PMID:24570283|PMID:25326555|PMID:25577287|PMID:25741868|PMID:28492532 8904614 Stim1 stromal interaction molecule 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1315668 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8904614 Stim1 stromal interaction molecule 1 gene DOID:0081152 common variable immunodeficiency 10 ISO RGD:1315668 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 PMID:25741868|PMID:28492532 8904614 Stim1 stromal interaction molecule 1 gene DOID:0111970 immunodeficiency 10 ISO RGD:1315668 D RGD:7240710 20180130 OMIM 8904614 Stim1 stromal interaction molecule 1 gene DOID:0111970 immunodeficiency 10 ISO RGD:1315668 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 PMID:19420366|PMID:20876309|PMID:21427704|PMID:22190180|PMID:24033266|PMID:24621671|PMID:25741868|PMID:25918394|PMID:26560041|PMID:28492532|PMID:31844136|PMID:32098964|PMID:33628209|PMID:35724962 8904614 Stim1 stromal interaction molecule 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8904614 Stim1 stromal interaction molecule 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1315668 D RGD:9068941 20220616 RGD protein:increased expression:stomach (human) PMID:27035326|REF_RGD_ID:152995363 8904614 Stim1 stromal interaction molecule 1 gene DOID:10763 hypertension ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19897708 8904614 Stim1 stromal interaction molecule 1 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:1306831 D RGD:9068941 20210917 RGD DNA:missense mutation:cds:premature stop codon PMID:26574044|REF_RGD_ID:150429659 8904614 Stim1 stromal interaction molecule 1 gene DOID:1324 lung cancer ameliorates ISO RGD:1315668 D RGD:9068941 20220616 RGD human cells in mouse model PMID:27863410|REF_RGD_ID:152995356 8904614 Stim1 stromal interaction molecule 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1315668 D RGD:9068941 20220616 RGD protein:increased expression:esophagus (human) PMID:31843504|REF_RGD_ID:152995393 8904614 Stim1 stromal interaction molecule 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315668 D RGD:9068941 20220616 RGD mRNA:increased expression:blood plasma (human) PMID:32184656|REF_RGD_ID:152995359 8904614 Stim1 stromal interaction molecule 1 gene DOID:422 congenital structural myopathy ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8904614 Stim1 stromal interaction molecule 1 gene DOID:630 genetic disease ISO RGD:1315668 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8904614 Stim1 stromal interaction molecule 1 gene DOID:6364 migraine ISO RGD:1315668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868 8904614 Stim1 stromal interaction molecule 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8904614 Stim1 stromal interaction molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1315668 D RGD:9068941 20220616 RGD mRNA:increased expression:liver (human) PMID:23211538|REF_RGD_ID:152995401 8904614 Stim1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1315668 D RGD:9068941 20220616 RGD associated with nasopharynx carcinoma; human cells in mouse model PMID:32165272|REF_RGD_ID:152995361 8904614 Stim1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1315668 D RGD:9068941 20220616 RGD human cells in mouse model;associated with lung cancer PMID:28713917|REF_RGD_ID:152995357 8904614 Stim1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1347076 D RGD:9068941 20220616 RGD associated with hepatocellular carcinoma; human cells in mouse model PMID:32483465|REF_RGD_ID:152995387 8904614 Stim1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:1315668 D RGD:9068941 20220616 RGD associated with hepatocellular carcinoma;protein:decreased expression:liver (human) PMID:32483465|REF_RGD_ID:152995387 8904614 Stim1 stromal interaction molecule 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1315668 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 8904614 Stim1 stromal interaction molecule 1 gene DOID:9002092 Tubular Aggregate Myopathies ISO RGD:1315668 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Tubular Aggregate Myopathy PMID:25741868|PMID:28492532 8904614 Stim1 stromal interaction molecule 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27863410 8904614 Stim1 stromal interaction molecule 1 gene DOID:9002514 Neointima ameliorates ISO RGD:1306831 D RGD:9068941 20220421 RGD PMID:19107116|REF_RGD_ID:151893459 8904614 Stim1 stromal interaction molecule 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1315668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27863410 8904614 Stim1 stromal interaction molecule 1 gene DOID:9253 gastrointestinal stromal tumor ameliorates ISO RGD:1315668 D RGD:9068941 20220616 RGD human cells in mouse model PMID:29957833|REF_RGD_ID:152995399 8904614 Stim1 stromal interaction molecule 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1315668 D RGD:9068941 20220616 RGD mRNA,protein:increased expression:colorectum (human) PMID:25381814|PMID:25531324|REF_RGD_ID:152995364|REF_RGD_ID:152995402 8904614 Stim1 stromal interaction molecule 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1315668 D RGD:9068941 20220617 RGD DNA:SNPs:intron, 3'utr: (rs3794050,rs7934581,rs3750996) (human) PMID:33470690|REF_RGD_ID:152995405 8904660 Tas1r2 taste 1 receptor member 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353489 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8904660 Tas1r2 taste 1 receptor member 2 gene DOID:630 genetic disease ISO RGD:1353489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904669 Rnd3 Rho family GTPase 3 gene DOID:630 genetic disease ISO RGD:1351005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904669 Rnd3 Rho family GTPase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8904678 Cdh24 cadherin 24 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1353170 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8904678 Cdh24 cadherin 24 gene DOID:630 genetic disease ISO RGD:1353170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904678 Cdh24 cadherin 24 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1353170 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8904678 Cdh24 cadherin 24 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1353170 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8904696 Amph amphiphysin gene DOID:0080600 COVID-19 ISO RGD:733884 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8904696 Amph amphiphysin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8904696 Amph amphiphysin gene DOID:630 genetic disease ISO RGD:733884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:0080600 COVID-19 ISO RGD:736845 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:10652 Alzheimer's disease ISO RGD:736845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:11832 visual epilepsy ISO RGD:621241 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, temporal lobe PMID:12379262|REF_RGD_ID:1566572 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:224 transient cerebral ischemia ISO RGD:621241 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:16630594|REF_RGD_ID:9681747 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:2316 brain ischemia ISO RGD:621241 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:17073862|REF_RGD_ID:9681750 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027488 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:5199 ureteral obstruction ISO RGD:621241 D RGD:9068941 20200609 RGD PMID:17583485|REF_RGD_ID:9681748 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:5200 urinary tract obstruction ISO RGD:733905 D RGD:9068941 20220825 MouseDO 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:736845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:5844 myocardial infarction ISO RGD:621241 D RGD:9068941 20200609 RGD PMID:15625312|REF_RGD_ID:9681751 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:630 genetic disease ISO RGD:736845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19514085 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:621241 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nerve PMID:11311987|REF_RGD_ID:5037239 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23289900 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9005930 Endotoxemia ISO RGD:621241 D RGD:9068941 20200609 RGD protein:increased expression:plasma, spleen PMID:23025351|REF_RGD_ID:9681752 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:621241 D RGD:9068941 20200609 RGD PMID:18272597|REF_RGD_ID:9684850 8904732 Adamts1 ADAM metallopeptidase with thrombospondin type 1 motif 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23289900 8904745 Tax1bp3 Tax1 binding protein 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1318972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy PMID:25645515|PMID:25741868|PMID:32576985 8904745 Tax1bp3 Tax1 binding protein 3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1318972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25645515|PMID:25741868|PMID:32576985 8904745 Tax1bp3 Tax1 binding protein 3 gene DOID:1064 cystinosis ISO RGD:1318972 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Cystinosis PMID:24385851 8904745 Tax1bp3 Tax1 binding protein 3 gene DOID:3613 Canavan disease ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8904745 Tax1bp3 Tax1 binding protein 3 gene DOID:630 genetic disease ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8904745 Tax1bp3 Tax1 binding protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8904745 Tax1bp3 Tax1 binding protein 3 gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8904745 Tax1bp3 Tax1 binding protein 3 gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:1318972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome 8904745 Tax1bp3 Tax1 binding protein 3 gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1318972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8904770 Rpl19 ribosomal protein L19 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:734460 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:28492532 8904780 Gmfg glia maturation factor gamma gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:736890 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8904780 Gmfg glia maturation factor gamma gene DOID:630 genetic disease ISO RGD:736890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904780 Gmfg glia maturation factor gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8904780 Gmfg glia maturation factor gamma gene DOID:9352 type 2 diabetes mellitus ISO RGD:736890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8904815 Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 gene DOID:0050941 spastic ataxia 2 ISO RGD:1604452 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 8904815 Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1604452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 8904815 Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1604452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904836 Trim33 tripartite motif containing 33 gene DOID:0080690 RASopathy ISO RGD:1316478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8904836 Trim33 tripartite motif containing 33 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1316478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8904836 Trim33 tripartite motif containing 33 gene DOID:2394 ovarian cancer ISO RGD:1316478 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8904836 Trim33 tripartite motif containing 33 gene DOID:630 genetic disease ISO RGD:1316478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904869 Kcnh8 potassium voltage-gated channel subfamily H member 8 gene DOID:0060417 3p deletion syndrome ISO RGD:1352658 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8904869 Kcnh8 potassium voltage-gated channel subfamily H member 8 gene DOID:0111444 progressive myoclonus epilepsy 4 ISO RGD:1352658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868 8904869 Kcnh8 potassium voltage-gated channel subfamily H member 8 gene DOID:630 genetic disease ISO RGD:1352658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904869 Kcnh8 potassium voltage-gated channel subfamily H member 8 gene DOID:8466 retinal degeneration ISO RGD:2549 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8904869 Kcnh8 potassium voltage-gated channel subfamily H member 8 gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:2549 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8904889 Kdm4a lysine demethylase 4A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8904889 Kdm4a lysine demethylase 4A gene DOID:10283 prostate cancer ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:22120715|REF_RGD_ID:9586733 8904889 Kdm4a lysine demethylase 4A gene DOID:11054 urinary bladder cancer ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder (human) PMID:23603248|REF_RGD_ID:9587435 8904889 Kdm4a lysine demethylase 4A gene DOID:1324 lung cancer ISO RGD:1314960 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:23168260|REF_RGD_ID:9587434 8904889 Kdm4a lysine demethylase 4A gene DOID:1612 breast cancer severity ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA:altered expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 8904889 Kdm4a lysine demethylase 4A gene DOID:1909 melanoma ISO RGD:1314960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 8904889 Kdm4a lysine demethylase 4A gene DOID:5517 stomach carcinoma severity ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:gastric mucosa (human) PMID:24802408|REF_RGD_ID:9587437 8904889 Kdm4a lysine demethylase 4A gene DOID:630 genetic disease ISO RGD:1314960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904889 Kdm4a lysine demethylase 4A gene DOID:9003936 Cardiomegaly ISO RGD:1314961 D RGD:9068941 20200609 RGD PMID:21555854|REF_RGD_ID:9587422 8904889 Kdm4a lysine demethylase 4A gene DOID:986 alopecia areata ISO RGD:1314960 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 8904931 Sh2d3a SH2 domain containing 3A gene DOID:0080490 mucolipidosis type IV ISO RGD:1348075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8904931 Sh2d3a SH2 domain containing 3A gene DOID:630 genetic disease ISO RGD:1348075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904957 Ssna1 SS nuclear autoantigen 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8904957 Ssna1 SS nuclear autoantigen 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321056 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8904957 Ssna1 SS nuclear autoantigen 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8904957 Ssna1 SS nuclear autoantigen 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321056 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8904957 Ssna1 SS nuclear autoantigen 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8904957 Ssna1 SS nuclear autoantigen 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1321056 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8904957 Ssna1 SS nuclear autoantigen 1 gene DOID:1826 epilepsy ISO RGD:1321056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8904957 Ssna1 SS nuclear autoantigen 1 gene DOID:630 genetic disease ISO RGD:1321056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904957 Ssna1 SS nuclear autoantigen 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8904964 Nfs1 NFS1 cysteine desulfurase gene DOID:0070425 combined oxidative phosphorylation deficiency 52 ISO RGD:1350532 D RGD:7240710 20210707 OMIM 8904964 Nfs1 NFS1 cysteine desulfurase gene DOID:0070425 combined oxidative phosphorylation deficiency 52 ISO RGD:1350532 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 52 PMID:16199547|PMID:24498631|PMID:25741868|PMID:28492532|PMID:33457206 8904964 Nfs1 NFS1 cysteine desulfurase gene DOID:630 genetic disease ISO RGD:1350532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8904989 Hcrtr2 hypocretin receptor 2 gene DOID:4195 hyperglycemia treatment ISO RGD:2788 D RGD:9068941 20200609 RGD associated with Obesity PMID:12217430|REF_RGD_ID:1358430 8904989 Hcrtr2 hypocretin receptor 2 gene DOID:630 genetic disease ISO RGD:1351591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8904989 Hcrtr2 hypocretin receptor 2 gene DOID:8986 narcolepsy ISO RGD:12143991 D RGD:9068941 20210924 OMIA Narcolepsy PMID:10458611|PMID:10471483|PMID:10552257|PMID:11282968|PMID:11442359|PMID:11682143|PMID:12044453|PMID:12846289|PMID:1393561|PMID:1455131|PMID:14746368|PMID:15308685|PMID:1645207|PMID:1673032|PMID:1687464|PMID:1689603|PMID:17873267|PMID:1831837|PMID:18714784|PMID:19689311|PMID:1972749|PMID:23582416|PMID:2523880|PMID:2557958|PMID:2563354|PMID:3010425|PMID:33313880|PMID:33556640|PMID:3704431|PMID:3704433|PMID:3704445|PMID:3775753|PMID:3828787|PMID:4472992|PMID:4736237|PMID:562026|PMID:574310|PMID:6188216|PMID:6539848|PMID:6996290|PMID:7199479|PMID:72649|PMID:7579139|PMID:7623112|PMID:7701203|PMID:7701206|PMID:7991953|PMID:8008205|PMID:8008206|PMID:8095066|PMID:8095546|PMID:8275992|PMID:8746387|PMID:8764647|PMID:8891251|PMID:8905685|PMID:9050784|PMID:9185233|PMID:9236248|PMID:9377531|PMID:945254|PMID:9462456|PMID:9481825|PMID:9870955|PMID:9987919 8904989 Hcrtr2 hypocretin receptor 2 gene DOID:8986 narcolepsy ISO RGD:1351591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 8904989 Hcrtr2 hypocretin receptor 2 gene DOID:8986 narcolepsy ISO RGD:1553616 D RGD:9068941 20220825 MouseDO OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250 8905003 Cnot7 CCR4-NOT transcription complex subunit 7 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1313268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8905003 Cnot7 CCR4-NOT transcription complex subunit 7 gene DOID:12336 male infertility ISO RGD:1305313 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:22785219|REF_RGD_ID:10755341 8905003 Cnot7 CCR4-NOT transcription complex subunit 7 gene DOID:630 genetic disease ISO RGD:1313268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905023 Arl6ip6 ADP ribosylation factor like GTPase 6 interacting protein 6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347021 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 8905023 Arl6ip6 ADP ribosylation factor like GTPase 6 interacting protein 6 gene DOID:630 genetic disease ISO RGD:1347021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905031 Gabre gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:68441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8905031 Gabre gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:12849 autistic disorder ISO RGD:68441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8905031 Gabre gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:630 genetic disease ISO RGD:68441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905031 Gabre gamma-aminobutyric acid type A receptor subunit epsilon gene DOID:9007661 Dwarfism ISO RGD:68441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8905045 Card11 caspase recruitment domain family member 11 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8905045 Card11 caspase recruitment domain family member 11 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25049379|PMID:26192916 8905045 Card11 caspase recruitment domain family member 11 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319685 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:multiple (human) PMID:18323416|REF_RGD_ID:11100036 8905045 Card11 caspase recruitment domain family member 11 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8905045 Card11 caspase recruitment domain family member 11 gene DOID:0111955 immunodeficiency 27A ISO RGD:1319685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE PMID:25741868 8905045 Card11 caspase recruitment domain family member 11 gene DOID:0111957 immunodeficiency 11A ISO RGD:1319685 D RGD:7240710 20180130 OMIM 8905045 Card11 caspase recruitment domain family member 11 gene DOID:0111957 immunodeficiency 11A ISO RGD:1319685 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 11A | ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:16199547|PMID:17576681|PMID:18323416|PMID:23027925|PMID:23129749|PMID:23149938|PMID:23374270|PMID:23561803|PMID:24033266|PMID:24728327|PMID:25087226|PMID:25352053|PMID:25741868|PMID:25930198|PMID:26289640|PMID:26861442|PMID:28492532|PMID:28824638|PMID:28826773|PMID:29472930|PMID:30170123|PMID:30894704|PMID:30940614|PMID:33202260|PMID:33425813|PMID:33859323|PMID:34573280|PMID:34975878|PMID:35753512|PMID:9536098 8905045 Card11 caspase recruitment domain family member 11 gene DOID:0111958 immunodeficiency 11B ISO RGD:1319685 D RGD:7240710 20190315 OMIM 8905045 Card11 caspase recruitment domain family member 11 gene DOID:0111958 immunodeficiency 11B ISO RGD:1319685 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ATOPIC DERMATITIS, ELEVATED IgE, AND EOSINOPHILIA | ClinVar Annotator: match by term: Immunodeficiency 11b with atopic dermatitis PMID:16199547|PMID:17576681|PMID:23129749|PMID:23374270|PMID:23561803|PMID:24033266|PMID:25741868|PMID:26289640|PMID:28492532|PMID:28628108|PMID:28826773|PMID:30170123|PMID:33202260|PMID:35753512|PMID:9536098 8905045 Card11 caspase recruitment domain family member 11 gene DOID:2841 asthma ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Asthma PMID:18323416|PMID:23027925|PMID:23129749|PMID:25352053|PMID:25741868|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930 8905045 Card11 caspase recruitment domain family member 11 gene DOID:2841 asthma susceptibility ISO RGD:1319686 D RGD:9068941 20200609 RGD PMID:16751370|REF_RGD_ID:11100037 8905045 Card11 caspase recruitment domain family member 11 gene DOID:3310 atopic dermatitis ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114|PMID:28628108 8905045 Card11 caspase recruitment domain family member 11 gene DOID:4450 renal cell carcinoma ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8905045 Card11 caspase recruitment domain family member 11 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1319685 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:25384343|REF_RGD_ID:11100039 8905045 Card11 caspase recruitment domain family member 11 gene DOID:630 genetic disease ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8905045 Card11 caspase recruitment domain family member 11 gene DOID:8541 Sezary's disease ISO RGD:1319685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667|PMID:26551670 8905045 Card11 caspase recruitment domain family member 11 gene DOID:9000756 Persistent Polyclonal B-Cell Lymphocytosis ISO RGD:1319685 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.E127G, p.G116S (human) PMID:23129749|REF_RGD_ID:11100033 8905045 Card11 caspase recruitment domain family member 11 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteopenia PMID:18323416|PMID:23027925|PMID:23129749|PMID:25352053|PMID:25741868|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930 8905045 Card11 caspase recruitment domain family member 11 gene DOID:9002720 Splenomegaly ISO RGD:1319685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:18323416|PMID:23027925|PMID:23129749|PMID:25352053|PMID:25741868|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930 8905045 Card11 caspase recruitment domain family member 11 gene DOID:9005199 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY ISO RGD:1319685 D RGD:7240710 20180130 OMIM 8905045 Card11 caspase recruitment domain family member 11 gene DOID:9005199 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY ISO RGD:1319685 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy PMID:17576681|PMID:18323416|PMID:23027925|PMID:23129749|PMID:23149938|PMID:24033266|PMID:25352053|PMID:25741868|PMID:25930198|PMID:26861442|PMID:28492532|PMID:28824638|PMID:29472930|PMID:30170123|PMID:30940614|PMID:33202260|PMID:9536098 8905082 Ces5a carboxylesterase 5A gene DOID:630 genetic disease ISO RGD:1606422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905112 Spata46 spermatogenesis associated 46 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1603514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8905112 Spata46 spermatogenesis associated 46 gene DOID:1540 parathyroid carcinoma ISO RGD:1603514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8905112 Spata46 spermatogenesis associated 46 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8905120 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1321743 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 8905120 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:0080600 COVID-19 ISO RGD:1321743 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8905120 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1321743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8905120 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1321743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:31619059|PMID:9536098 8905120 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9000346 Congenital Disorder of Glycosylation Type IIt ISO RGD:1321743 D RGD:7240710 20200610 OMIM 8905120 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9000346 Congenital Disorder of Glycosylation Type IIt ISO RGD:1321743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type iit PMID:25741868|PMID:27508872|PMID:28097321|PMID:28492532|PMID:32293671 8905120 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1321743 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8905120 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8905154 Tmem242 transmembrane protein 242 gene DOID:10348 blepharophimosis ISO RGD:1316350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:24674232 8905154 Tmem242 transmembrane protein 242 gene DOID:630 genetic disease ISO RGD:1316350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905163 Ipo5 importin 5 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1603712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8905163 Ipo5 importin 5 gene DOID:3910 lung adenocarcinoma ISO RGD:1603712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8905163 Ipo5 importin 5 gene DOID:630 genetic disease ISO RGD:1603712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905163 Ipo5 importin 5 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1603712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8905163 Ipo5 importin 5 gene DOID:9006205 Animal Disease Models ISO RGD:1603712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8905199 Uimc1 ubiquitin interaction motif containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8905199 Uimc1 ubiquitin interaction motif containing 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8905199 Uimc1 ubiquitin interaction motif containing 1 gene DOID:1059 intellectual disability ISO RGD:1601999 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8905199 Uimc1 ubiquitin interaction motif containing 1 gene DOID:14748 Sotos syndrome ISO RGD:1601999 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8905199 Uimc1 ubiquitin interaction motif containing 1 gene DOID:630 genetic disease ISO RGD:1601999 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905199 Uimc1 ubiquitin interaction motif containing 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8905199 Uimc1 ubiquitin interaction motif containing 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1601999 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8905218 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:1618964 D RGD:9068941 20220825 MouseDO OMIM:277600 | OMIM:608328 | OMIM:613195 | OMIM:614819 8905218 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1318756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8905218 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:0060648 anterior segment dysgenesis ISO RGD:1318756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:19836009|PMID:24940034|PMID:28492532|PMID:32499604 8905218 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:1070 primary open angle glaucoma ISO RGD:12401864 D RGD:9068941 20230824 OMIA Glaucoma, primary open angle, ADAMTS17-related PMID:26277300|PMID:26456751|PMID:26474315|PMID:26683476|PMID:26945802|PMID:27192202|PMID:27681326|PMID:28176809|PMID:29287154|PMID:31131111|PMID:37582787 8905218 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:630 genetic disease ISO RGD:1318756 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8905218 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9007188 Liver Neoplasms ISO RGD:1318756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8905218 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9008508 Weill-Marchesani Syndrome 4 ISO RGD:1318756 D RGD:7240710 20180130 OMIM 8905218 Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 gene DOID:9008508 Weill-Marchesani Syndrome 4 ISO RGD:1318756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ADAMTS17-related condition | ClinVar Annotator: match by term: Weill-Marchesani syndrome 4 | ClinVar Annotator: match by term: Weill-Marchesani-like syndrome PMID:17576681|PMID:19836009|PMID:22486325|PMID:24940034|PMID:25741868|PMID:28492532|PMID:31848748|PMID:32616716|PMID:9536098 8905245 Sgip1 SH3GL interacting endocytic adaptor 1 gene DOID:1059 intellectual disability ISO RGD:1346308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8905245 Sgip1 SH3GL interacting endocytic adaptor 1 gene DOID:630 genetic disease ISO RGD:1346308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905328 Mab21l2 mab-21 like 2 gene DOID:0081151 common variable immunodeficiency 8 ISO RGD:1323458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:26206937|PMID:26768763|PMID:28492532 8905328 Mab21l2 mab-21 like 2 gene DOID:0111802 syndromic microphthalmia 14 ISO RGD:1323458 D RGD:7240710 20180130 OMIM 8905328 Mab21l2 mab-21 like 2 gene DOID:0111802 syndromic microphthalmia 14 ISO RGD:1323458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome PMID:24906020|PMID:25719200|PMID:25741868|PMID:32860008|PMID:34008892 8905328 Mab21l2 mab-21 like 2 gene DOID:12270 coloboma ISO RGD:1323458 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.151 C>G, (p.R51G)(human) PMID:25719200|REF_RGD_ID:11553846 8905328 Mab21l2 mab-21 like 2 gene DOID:630 genetic disease ISO RGD:1323458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28166811|PMID:28492532 8905328 Mab21l2 mab-21 like 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1323458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 8905341 Evc EvC ciliary complex subunit 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1342513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:10700162|PMID:10700184|PMID:14217223|PMID:17024374|PMID:17576681|PMID:19810119|PMID:23220543|PMID:25741868|PMID:28492532|PMID:29068549|PMID:31028937|PMID:9066272|PMID:9536098 8905341 Evc EvC ciliary complex subunit 1 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1342513 D RGD:7240710 20180130 OMIM 8905341 Evc EvC ciliary complex subunit 1 gene DOID:0111571 Weyers acrofacial dysostosis ISO RGD:1342513 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS PMID:10700184|PMID:16199547|PMID:17576681|PMID:18947413|PMID:19251731|PMID:19810119|PMID:19876929|PMID:23220543|PMID:25741868|PMID:27453244|PMID:28492532|PMID:7635486|PMID:9536098 8905341 Evc EvC ciliary complex subunit 1 gene DOID:12712 nephronophthisis ISO RGD:1342513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 8905341 Evc EvC ciliary complex subunit 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1342513 D RGD:7240710 20180130 OMIM 8905341 Evc EvC ciliary complex subunit 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1342513 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome | ClinVar Annotator: match by term: Mesoectodermal dysplasia PMID:10700162|PMID:10700184|PMID:14217223|PMID:16199547|PMID:17024374|PMID:17576681|PMID:18454448|PMID:18947413|PMID:19251731|PMID:19744229|PMID:19810119|PMID:19876929|PMID:20184732|PMID:22190900|PMID:23220543|PMID:23924873|PMID:24431330|PMID:25046119|PMID:25174843|PMID:25492405|PMID:25500235|PMID:25640679|PMID:25741868|PMID:26621368|PMID:26625674|PMID:26748586|PMID:27453244|PMID:28253570|PMID:28492532|PMID:28854412|PMID:29068549|PMID:29229899|PMID:29321360|PMID:30805457|PMID:31028937|PMID:31319225|PMID:31338997|PMID:32055034|PMID:33875766|PMID:34645488|PMID:7628126|PMID:7635486|PMID:9066272|PMID:9536098 8905341 Evc EvC ciliary complex subunit 1 gene DOID:1657 ventricular septal defect ISO RGD:1342513 D RGD:9068941 20220929 RGD DNA:SNP::c.1727G>A(human) PMID:29257216|REF_RGD_ID:155260289 8905341 Evc EvC ciliary complex subunit 1 gene DOID:630 genetic disease ISO RGD:1342513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8905341 Evc EvC ciliary complex subunit 1 gene DOID:6678 tooth and nail syndrome ISO RGD:1342513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 8905369 Orc4 origin recognition complex subunit 4 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1343496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358631|PMID:21358632 8905369 Orc4 origin recognition complex subunit 4 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1343496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:19809484|PMID:19904302|PMID:21981781|PMID:23422940|PMID:23587880|PMID:23632792|PMID:24885232|PMID:28492532 8905369 Orc4 origin recognition complex subunit 4 gene DOID:0080513 Meier-Gorlin syndrome 2 ISO RGD:1343496 D RGD:7240710 20190424 OMIM 8905369 Orc4 origin recognition complex subunit 4 gene DOID:0080513 Meier-Gorlin syndrome 2 ISO RGD:1343496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 PMID:11477602|PMID:18414213|PMID:21358631|PMID:21358632|PMID:22333897|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34008892 8905369 Orc4 origin recognition complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1343496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8905369 Orc4 origin recognition complex subunit 4 gene DOID:630 genetic disease ISO RGD:1343496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8905403 Tesc tescalcin gene DOID:630 genetic disease ISO RGD:1606266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905429 Wbp2nl WBP2 N-terminal like gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8905429 Wbp2nl WBP2 N-terminal like gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1604730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8905429 Wbp2nl WBP2 N-terminal like gene DOID:0112318 Schindler disease type 1 ISO RGD:1604730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 8905429 Wbp2nl WBP2 N-terminal like gene DOID:0112319 Kanzaki disease ISO RGD:1604730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 8905429 Wbp2nl WBP2 N-terminal like gene DOID:1059 intellectual disability ISO RGD:1604730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8905429 Wbp2nl WBP2 N-terminal like gene DOID:630 genetic disease ISO RGD:1604730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905458 Ubap1 ubiquitin associated protein 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8905458 Ubap1 ubiquitin associated protein 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313064 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8905458 Ubap1 ubiquitin associated protein 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8905458 Ubap1 ubiquitin associated protein 1 gene DOID:0112341 hereditary spastic paraplegia 80 ISO RGD:1313064 D RGD:7240710 20190911 OMIM 8905458 Ubap1 ubiquitin associated protein 1 gene DOID:0112341 hereditary spastic paraplegia 80 ISO RGD:1313064 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant | ClinVar Annotator: match by term: UBAP1-related condition PMID:25741868|PMID:25741869|PMID:30929741|PMID:31203368|PMID:31515522|PMID:31696996 8905458 Ubap1 ubiquitin associated protein 1 gene DOID:630 genetic disease ISO RGD:1313064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8905458 Ubap1 ubiquitin associated protein 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313064 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8905458 Ubap1 ubiquitin associated protein 1 gene DOID:9870 galactosemia ISO RGD:1313064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8905476 Igsf3 immunoglobulin superfamily member 3 gene DOID:10485 esophageal atresia ISO RGD:1317196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8905476 Igsf3 immunoglobulin superfamily member 3 gene DOID:13929 lacrimal duct obstruction ISO RGD:1317196 D RGD:7240710 20180130 OMIM 8905476 Igsf3 immunoglobulin superfamily member 3 gene DOID:13929 lacrimal duct obstruction ISO RGD:1317196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lacrimal duct defect PMID:24372406 8905476 Igsf3 immunoglobulin superfamily member 3 gene DOID:2661 myoepithelioma ISO RGD:1317196 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8905476 Igsf3 immunoglobulin superfamily member 3 gene DOID:630 genetic disease ISO RGD:1317196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905476 Igsf3 immunoglobulin superfamily member 3 gene DOID:9008473 Lacrimal Puncta Agenesis ISO RGD:1317196 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lacrimal puncta, absence of PMID:24372406 8905494 Tln2 talin 2 gene DOID:2661 myoepithelioma ISO RGD:1350417 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8905494 Tln2 talin 2 gene DOID:2717 Bloom syndrome ISO RGD:1350417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8905494 Tln2 talin 2 gene DOID:630 genetic disease ISO RGD:1350417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905494 Tln2 talin 2 gene DOID:9256 colorectal cancer ISO RGD:1350417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8905570 Top1 DNA topoisomerase I gene DOID:0060041 autism spectrum disorder ISO RGD:733198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8905570 Top1 DNA topoisomerase I gene DOID:14566 disease of cellular proliferation ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11598410 8905570 Top1 DNA topoisomerase I gene DOID:2234 focal epilepsy ISO RGD:733198 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8905570 Top1 DNA topoisomerase I gene DOID:630 genetic disease ISO RGD:733198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905570 Top1 DNA topoisomerase I gene DOID:9000918 Disease Progression ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 8905570 Top1 DNA topoisomerase I gene DOID:9002801 Recurrence ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 8905570 Top1 DNA topoisomerase I gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19931604 8905570 Top1 DNA topoisomerase I gene DOID:9007188 Liver Neoplasms ISO RGD:733198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30132517 8905600 Epb41l3 erythrocyte membrane protein band 4.1 like 3 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:732325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8905600 Epb41l3 erythrocyte membrane protein band 4.1 like 3 gene DOID:1059 intellectual disability ISO RGD:732325 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8905600 Epb41l3 erythrocyte membrane protein band 4.1 like 3 gene DOID:3565 meningioma ISO RGD:732325 D RGD:9068941 20200609 RGD PMID:10888600|REF_RGD_ID:1300356 8905600 Epb41l3 erythrocyte membrane protein band 4.1 like 3 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732325 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25050929|REF_RGD_ID:151665741 8905600 Epb41l3 erythrocyte membrane protein band 4.1 like 3 gene DOID:630 genetic disease ISO RGD:732325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905600 Epb41l3 erythrocyte membrane protein band 4.1 like 3 gene DOID:9008939 Breast Neoplasms ISO RGD:732325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17260099 8905654 Auh AU RNA binding methylglutaconyl-CoA hydratase gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1314501 D RGD:7240710 20180130 OMIM 8905654 Auh AU RNA binding methylglutaconyl-CoA hydratase gene DOID:0110002 3-methylglutaconic aciduria type 1 ISO RGD:1314501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 PMID:10070612|PMID:10626578|PMID:10896289|PMID:12434311|PMID:12655555|PMID:15033206|PMID:16199547|PMID:16354225|PMID:16640564|PMID:17130438|PMID:17576681|PMID:20855850|PMID:20882351|PMID:21840233|PMID:24598254|PMID:25741868|PMID:28438368|PMID:28492532|PMID:32778825|PMID:6181239|PMID:9536098 8905654 Auh AU RNA binding methylglutaconyl-CoA hydratase gene DOID:447 renal tubular transport disease susceptibility ISO RGD:1314501 D RGD:9068941 20200609 RGD DNA:nonsense mutation,splice-site mutation:R197X,VS8-1G-->A;3-methylglutaconic aciduria type I,OMIM:250950 PMID:12434311|REF_RGD_ID:1599425 8905654 Auh AU RNA binding methylglutaconyl-CoA hydratase gene DOID:630 genetic disease ISO RGD:1314501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0050572 cone-rod dystrophy ISO RGD:1344166 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0050700 cardiomyopathy onset ISO RGD:1551416 D RGD:9068941 20200609 RGD PMID:23316298|REF_RGD_ID:7800701 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0050817 Stargardt disease ISO RGD:1344166 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:11440988|PMID:11440989|PMID:20157015|PMID:20952381|PMID:23384603|PMID:25012220|PMID:25741868|PMID:26467025|PMID:28005958|PMID:28492532|PMID:33084218|PMID:34242285 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0060260 ptosis ISO RGD:1344166 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ptosis PMID:12036970|PMID:19303950|PMID:20157015|PMID:22857269|PMID:23388408|PMID:25741868|PMID:26467025|PMID:27165006|PMID:27890673|PMID:28492532|PMID:31521625|PMID:32420686|PMID:37196654 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0080336 mitochondrial DNA depletion syndrome 14 ISO RGD:1344166 D RGD:7240710 20240103 OMIM 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0080336 mitochondrial DNA depletion syndrome 14 ISO RGD:1344166 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:18222991|PMID:20157015|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25641387|PMID:25741868|PMID:26206283|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32025183|PMID:33546218|PMID:33884488|PMID:34242285|PMID:9490303|PMID:9917792 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344166 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:12036970|PMID:19303950|PMID:20157015|PMID:22857269|PMID:23388408|PMID:25741868|PMID:26467025|PMID:27165006|PMID:27890673|PMID:28492532|PMID:31521625|PMID:32420686|PMID:37196654 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111340 dominant optic atrophy plus syndrome ISO RGD:1344166 D RGD:7240710 20240103 OMIM 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111340 dominant optic atrophy plus syndrome ISO RGD:1344166 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features | ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy PMID:11017079|PMID:11017080|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:12488262|PMID:12566046|PMID:14644237|PMID:14961560|PMID:15505825|PMID:15531309|PMID:16158427|PMID:16240368|PMID:16513463|PMID:17167772|PMID:17188070|PMID:17722006|PMID:17724190|PMID:18065439|PMID:18158317|PMID:18195150|PMID:18204809|PMID:18222991|PMID:18496845|PMID:19029523|PMID:19303950|PMID:19319978|PMID:19900585|PMID:20157015|PMID:20185555|PMID:20301426|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21036400|PMID:21112924|PMID:21636302|PMID:21646330|PMID:21745197|PMID:22042570|PMID:22433900|PMID:22779427|PMID:22857269|PMID:23250881|PMID:23388408|PMID:23401657|PMID:23916084|PMID:24798923|PMID:24907432|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25564500|PMID:25641387|PMID:25741868|PMID:26206283|PMID:26385429|PMID:26455272|PMID:26467025|PMID:26561570|PMID:26867657|PMID:27165006|PMID:27290639|PMID:27696015|PMID:27858935|PMID:27890673|PMID:28125838|PMID:28378518|PMID:28492532|PMID:28494813|PMID:28812649|PMID:28848318|PMID:28926202|PMID:28981474|PMID:29389947|PMID:30293569|PMID:30972688|PMID:31500643|PMID:31521625|PMID:31609081|PMID:31673222|PMID:31782039|PMID:32025183|PMID:32040484|PMID:32141364|PMID:32202296|PMID:32371413|PMID:32379273|PMID:32420686|PMID:33546218|PMID:33841295|PMID:33884488|PMID:34008892|PMID:34242285|PMID:34426522|PMID:34732400|PMID:34758253|PMID:35741767|PMID:37196654|PMID:4058877|PMID:6493699|PMID:9490303|PMID:9917792 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1344166 D RGD:7240710 20240103 OMIM 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111441 optic atrophy 1 ISO RGD:1344166 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dominant hereditary optic atrophy | ClinVar Annotator: match by term: Kjer-type optic atrophy | ClinVar Annotator: match by term: Optic Atrophy Type 1 | ClinVar Annotator: match by term: Optic Atrophy, Dominant | ClinVar Annotator: match by term: Optic atrophy, juvenile PMID:11017079|PMID:11017080|PMID:11440988|PMID:11440989|PMID:11735024|PMID:11810270|PMID:12036970|PMID:12488262|PMID:12566046|PMID:12842213|PMID:14644237|PMID:14961560|PMID:15505825|PMID:15531309|PMID:15948788|PMID:16158427|PMID:16199547|PMID:16240368|PMID:16513463|PMID:16617242|PMID:16785854|PMID:17167772|PMID:17188070|PMID:17251483|PMID:17576681|PMID:17722006|PMID:17724190|PMID:18065439|PMID:18158317|PMID:18222991|PMID:18360822|PMID:18496845|PMID:19029523|PMID:19319978|PMID:19581274|PMID:19900585|PMID:20157015|PMID:20185555|PMID:20301426|PMID:20417568|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21036400|PMID:21203403|PMID:21538838|PMID:21636302|PMID:21646330|PMID:21745197|PMID:21828197|PMID:22042570|PMID:22433900|PMID:22779427|PMID:22857269|PMID:23250881|PMID:23384603|PMID:23387428|PMID:23401657|PMID:23916084|PMID:24798923|PMID:24907432|PMID:24970096|PMID:25012220|PMID:25137924|PMID:25146915|PMID:25146916|PMID:25205859|PMID:25326637|PMID:25564500|PMID:25641387|PMID:25741868|PMID:25794858|PMID:26206283|PMID:26385429|PMID:26455272|PMID:26467025|PMID:26561570|PMID:26624494|PMID:26867657|PMID:27290639|PMID:27656661|PMID:27696015|PMID:27858935|PMID:28005958|PMID:28378518|PMID:28492532|PMID:28494813|PMID:28812649|PMID:28926202|PMID:29261183|PMID:29389947|PMID:30293569|PMID:30972688|PMID:31500643|PMID:31589614|PMID:31609081|PMID:31673222|PMID:31782039|PMID:32025183|PMID:32040484|PMID:32202296|PMID:32371413|PMID:32379273|PMID:32855858|PMID:33084218|PMID:33546218|PMID:33841295|PMID:33884488|PMID:34008892|PMID:34242285|PMID:34426522|PMID:34732400|PMID:35741767|PMID:37510321|PMID:4058877|PMID:6493699|PMID:9490303|PMID:9536098|PMID:9917792 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111580 Behr syndrome ISO RGD:1344166 D RGD:7240710 20240103 OMIM 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:0111580 Behr syndrome ISO RGD:1344166 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:17576681|PMID:17722006|PMID:18222991|PMID:18496845|PMID:19303950|PMID:19319978|PMID:19900585|PMID:20157015|PMID:20417568|PMID:20417570|PMID:20659957|PMID:20801516|PMID:20952381|PMID:21036400|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23388408|PMID:23401657|PMID:24907432|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25641387|PMID:25741868|PMID:25794858|PMID:26206283|PMID:26385429|PMID:26455272|PMID:26467025|PMID:26561570|PMID:27165006|PMID:27290639|PMID:27696015|PMID:27890673|PMID:28378518|PMID:28492532|PMID:28494813|PMID:28812649|PMID:30293569|PMID:30972688|PMID:31521625|PMID:31782039|PMID:32025183|PMID:32040484|PMID:32202296|PMID:32371413|PMID:32379273|PMID:32420686|PMID:33546218|PMID:33841295|PMID:33884488|PMID:34242285|PMID:34426522|PMID:34732400|PMID:35741767|PMID:37196654|PMID:9490303|PMID:9536098|PMID:9917792 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:10584 retinitis pigmentosa ISO RGD:1344166 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:10652 Alzheimer's disease ISO RGD:1344166 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:19605646|REF_RGD_ID:7800727 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma ISO RGD:1344166 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, leukocyte PMID:21552501|REF_RGD_ID:7800718 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1344166 D RGD:9068941 20200609 RGD DNA:SNPs: :rs166850, rs10451941 (human) PMID:18079692|REF_RGD_ID:7800721 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1344166 D RGD:9068941 20200609 RGD DNA:SNPs:exons, introns:multiple PMID:16785854|REF_RGD_ID:7800713 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1344166 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS8+4C>T (human) PMID:17188046|REF_RGD_ID:7800685 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:10763 hypertension ISO RGD:708423 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:24388463|REF_RGD_ID:7800726 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:11476 osteoporosis ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1344166 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:25741868 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:1686 glaucoma treatment ISO RGD:1551416 D RGD:9068941 20200609 RGD PMID:18936150|PMID:20664796|REF_RGD_ID:7800698|REF_RGD_ID:7800720 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:224 transient cerebral ischemia ISO RGD:1551416 D RGD:9068941 20200609 RGD protein:altered expression:brain PMID:22345048|REF_RGD_ID:7800722 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:224 transient cerebral ischemia treatment ISO RGD:708423 D RGD:9068941 20200609 RGD PMID:24633199|REF_RGD_ID:13208946 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:4483 rhinitis ISO RGD:708423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity mucosa (rat) PMID:28146064|REF_RGD_ID:13204839 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:5419 schizophrenia ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:5723 optic atrophy ISO RGD:1344166 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:11440988|PMID:12036970|PMID:19112530|PMID:19319978|PMID:19969356|PMID:20157015|PMID:20952381|PMID:22433900|PMID:25012220|PMID:25205859|PMID:25741868|PMID:26400325|PMID:28492532|PMID:34242285 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:5844 myocardial infarction treatment ISO RGD:708423 D RGD:9068941 20200609 RGD PMID:20886221|REF_RGD_ID:12738232 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:6000 congestive heart failure ISO RGD:1344166 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:19493956|REF_RGD_ID:7800717 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:6000 congestive heart failure ISO RGD:708423 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:19493956|REF_RGD_ID:7800717 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:630 genetic disease ISO RGD:1344166 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11440988|PMID:11440989|PMID:14961560|PMID:16513463|PMID:17576681|PMID:17722006|PMID:18496845|PMID:19319978|PMID:19900585|PMID:20157015|PMID:20952381|PMID:21636302|PMID:23384603|PMID:24970096|PMID:25012220|PMID:25146915|PMID:25146916|PMID:25741868|PMID:26455272|PMID:26467025|PMID:26561570|PMID:27290639|PMID:27696015|PMID:28005958|PMID:28378518|PMID:28492532|PMID:28494813|PMID:30293569|PMID:30972688|PMID:31782039|PMID:32040484|PMID:32202296|PMID:32371413|PMID:32379273|PMID:33084218|PMID:33841295|PMID:34242285|PMID:34426522|PMID:34732400|PMID:35741767|PMID:9536098 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:700 mitochondrial metabolism disease ISO RGD:1344166 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:12566046|PMID:14644237|PMID:14961560|PMID:15505825|PMID:15531309|PMID:16158427|PMID:16240368|PMID:16513463|PMID:17722006|PMID:18065439|PMID:18158317|PMID:18222991|PMID:19029523|PMID:19319978|PMID:20157015|PMID:20185555|PMID:20301426|PMID:20417570|PMID:20659957|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22382025|PMID:22433900|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24798923|PMID:24907432|PMID:25012220|PMID:25641387|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28378518|PMID:28492532|PMID:28812649|PMID:28926202|PMID:30293569|PMID:31609081|PMID:31673222|PMID:32025183|PMID:33546218|PMID:33884488|PMID:34242285|PMID:4058877|PMID:6493699|PMID:9490303|PMID:9917792 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:784 chronic kidney disease treatment ISO RGD:708423 D RGD:9068941 20200609 RGD PMID:27801955|REF_RGD_ID:12738369 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:8398 osteoarthritis ISO RGD:1344166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:8501 fundus dystrophy ISO RGD:1344166 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:17251483|PMID:18222991|PMID:20157015|PMID:20417570|PMID:20659957|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25205859|PMID:25641387|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32025183|PMID:32855858|PMID:33546218|PMID:33884488|PMID:34242285|PMID:9490303|PMID:9917792 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9001062 Normal Tension Glaucoma ISO RGD:1344166 D RGD:7240710 20240103 OMIM 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9001062 Normal Tension Glaucoma ISO RGD:1344166 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO PMID:11017079|PMID:11440988|PMID:11440989|PMID:11810270|PMID:12036970|PMID:14961560|PMID:15505825|PMID:16513463|PMID:18222991|PMID:20157015|PMID:20417570|PMID:20659957|PMID:20952381|PMID:21636302|PMID:21646330|PMID:22042570|PMID:22857269|PMID:23250881|PMID:23401657|PMID:24907432|PMID:25012220|PMID:25641387|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32025183|PMID:33546218|PMID:33884488|PMID:34242285|PMID:9490303|PMID:9917792 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9001725 Retina Reperfusion Injury ISO RGD:708423 D RGD:9068941 20200609 RGD protein:increased expression:retina, cytosol (rat) PMID:19122832|REF_RGD_ID:13208943 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9001890 Auditory Neuropathy ISO RGD:1344166 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9003936 Cardiomegaly ISO RGD:1551416 D RGD:9068941 20200609 RGD PMID:22406748|REF_RGD_ID:7800697 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9003936 Cardiomegaly ISO RGD:708423 D RGD:9068941 20200609 RGD associated with Hypertension PMID:24388463|REF_RGD_ID:7800726 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9003936 Cardiomegaly treatment ISO RGD:1551416 D RGD:9068941 20200609 RGD PMID:28503736|REF_RGD_ID:12910714 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9004610 Acute Lung Injury ISO RGD:708423 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:lung (rat) PMID:25560372|REF_RGD_ID:12437080 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9005532 Muscle Weakness ISO RGD:1344166 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:12036970|PMID:19303950|PMID:20157015|PMID:22857269|PMID:23388408|PMID:25741868|PMID:26467025|PMID:27165006|PMID:27890673|PMID:28492532|PMID:31521625|PMID:32420686|PMID:37196654 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9006630 Stargardt Disease 1 ISO RGD:1344166 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:11440988|PMID:11440989|PMID:20157015|PMID:20952381|PMID:23384603|PMID:25012220|PMID:25741868|PMID:26467025|PMID:28005958|PMID:28492532|PMID:33084218|PMID:34242285 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:708423 D RGD:9068941 20200609 RGD PMID:27491814|REF_RGD_ID:12910831 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9007174 Ventricular Remodeling ISO RGD:1344166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9007588 Heart Injuries ISO RGD:708423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart (rat) PMID:25677476|REF_RGD_ID:12437078 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9008824 Sarcopenia ISO RGD:708423 D RGD:9068941 20200609 RGD protein:increased expression:extensor digitorum longus (rat) PMID:23220115|REF_RGD_ID:12738219 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9282 ocular hypertension ISO RGD:708423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:21220562|REF_RGD_ID:7800684 8905668 Opa1 OPA1 mitochondrial dynamin like GTPase gene DOID:9452 steatotic liver disease ISO RGD:1344166 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hepatic steatosis PMID:12036970|PMID:19303950|PMID:20157015|PMID:22857269|PMID:23388408|PMID:25741868|PMID:26467025|PMID:27165006|PMID:27890673|PMID:28492532|PMID:31521625|PMID:32420686|PMID:37196654 8905714 Wnt8a Wnt family member 8A gene DOID:0060224 atrial fibrillation ISO RGD:1314861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366 8905714 Wnt8a Wnt family member 8A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1314861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8905714 Wnt8a Wnt family member 8A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8905714 Wnt8a Wnt family member 8A gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1314861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8905714 Wnt8a Wnt family member 8A gene DOID:10892 hypospadias ISO RGD:1314861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 8905714 Wnt8a Wnt family member 8A gene DOID:630 genetic disease ISO RGD:1314861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905714 Wnt8a Wnt family member 8A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8905714 Wnt8a Wnt family member 8A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8905714 Wnt8a Wnt family member 8A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8905723 Mrpl50 mitochondrial ribosomal protein L50 gene DOID:1059 intellectual disability ISO RGD:1317530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8905723 Mrpl50 mitochondrial ribosomal protein L50 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1317530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 8905723 Mrpl50 mitochondrial ribosomal protein L50 gene DOID:630 genetic disease ISO RGD:1317530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905723 Mrpl50 mitochondrial ribosomal protein L50 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1317530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 8905735 Apmap adipocyte plasma membrane associated protein gene DOID:630 genetic disease ISO RGD:1318897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905735 Apmap adipocyte plasma membrane associated protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8905748 Clec1b C-type lectin domain family 1 member B gene DOID:0080600 COVID-19 ISO RGD:1346944 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8905748 Clec1b C-type lectin domain family 1 member B gene DOID:630 genetic disease ISO RGD:1346944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905748 Clec1b C-type lectin domain family 1 member B gene DOID:684 hepatocellular carcinoma ISO RGD:1346944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8905759 Tmub2 transmembrane and ubiquitin like domain containing 2 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 8905759 Tmub2 transmembrane and ubiquitin like domain containing 2 gene DOID:630 genetic disease ISO RGD:1604292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905772 Riox1 ribosomal oxygenase 1 gene DOID:1059 intellectual disability ISO RGD:1317046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8905778 Pla2g15 phospholipase A2 group XV gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1344350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8905778 Pla2g15 phospholipase A2 group XV gene DOID:0080600 COVID-19 ISO RGD:1344350 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8905778 Pla2g15 phospholipase A2 group XV gene DOID:2349 arteriosclerosis ISO RGD:1552207 D RGD:9068941 20200609 RGD PMID:15781238|REF_RGD_ID:1582126 8905778 Pla2g15 phospholipase A2 group XV gene DOID:630 genetic disease ISO RGD:1344350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905788 Heph hephaestin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8905788 Heph hephaestin gene DOID:12849 autistic disorder ISO RGD:734284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8905788 Heph hephaestin gene DOID:1686 glaucoma ISO RGD:734284 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 8905788 Heph hephaestin gene DOID:1790 malignant mesothelioma ISO RGD:734284 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26818092 8905788 Heph hephaestin gene DOID:630 genetic disease ISO RGD:734284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905819 Syngr4 synaptogyrin 4 gene DOID:630 genetic disease ISO RGD:1317104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905832 Tle3 TLE family member 3, transcriptional corepressor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1351900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8905832 Tle3 TLE family member 3, transcriptional corepressor gene DOID:2717 Bloom syndrome ISO RGD:1351900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8905832 Tle3 TLE family member 3, transcriptional corepressor gene DOID:630 genetic disease ISO RGD:1351900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905832 Tle3 TLE family member 3, transcriptional corepressor gene DOID:7148 rheumatoid arthritis ISO RGD:1351900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8905832 Tle3 TLE family member 3, transcriptional corepressor gene DOID:9008939 Breast Neoplasms ISO RGD:1351900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19075277 8905832 Tle3 TLE family member 3, transcriptional corepressor gene DOID:9256 colorectal cancer ISO RGD:1351900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8905879 Il9 interleukin 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8905879 Il9 interleukin 9 gene DOID:0080600 COVID-19 severity ISO RGD:735276 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8905879 Il9 interleukin 9 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735276 D RGD:9068941 20200609 RGD associated with Influenza;protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 8905879 Il9 interleukin 9 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1620109 D RGD:9068941 20200609 RGD PMID:19915054|REF_RGD_ID:5128685 8905879 Il9 interleukin 9 gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:735276 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2069885, rs1799962 (human) PMID:20503287|REF_RGD_ID:5128684 8905879 Il9 interleukin 9 gene DOID:1485 cystic fibrosis ISO RGD:735276 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system mucosa PMID:12782818|REF_RGD_ID:5128699 8905879 Il9 interleukin 9 gene DOID:2048 autoimmune hepatitis ISO RGD:735276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 8905879 Il9 interleukin 9 gene DOID:2841 asthma ISO RGD:1620109 D RGD:9068941 20200609 RGD PMID:12153980|PMID:17446528|REF_RGD_ID:5128686|REF_RGD_ID:5128700 8905879 Il9 interleukin 9 gene DOID:2841 asthma ISO RGD:1620109 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15531759|REF_RGD_ID:5128690 8905879 Il9 interleukin 9 gene DOID:2841 asthma ISO RGD:735276 D RGD:9068941 20200609 RGD PMID:21356110|REF_RGD_ID:5128707 8905879 Il9 interleukin 9 gene DOID:2841 asthma ISO RGD:735276 D RGD:9068941 20200609 RGD protein:increased expression:sputum, macrophage, cytoplasm PMID:15303135|REF_RGD_ID:5128691 8905879 Il9 interleukin 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735276 D RGD:9068941 20200609 RGD protein:increased expression:sputum, macrophage, cytoplasm PMID:15303135|REF_RGD_ID:5128691 8905879 Il9 interleukin 9 gene DOID:3770 pulmonary fibrosis ISO RGD:1620109 D RGD:9068941 20200609 RGD associated with Silicosis PMID:11306428|REF_RGD_ID:5128702 8905879 Il9 interleukin 9 gene DOID:4483 rhinitis ISO RGD:735276 D RGD:9068941 20200609 RGD PMID:20525149|REF_RGD_ID:5128687 8905879 Il9 interleukin 9 gene DOID:630 genetic disease ISO RGD:735276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905879 Il9 interleukin 9 gene DOID:850 lung disease ISO RGD:1620109 D RGD:9068941 20200609 RGD Lung Injury PMID:15632004|REF_RGD_ID:5128689 8905879 Il9 interleukin 9 gene DOID:9001472 Nasal Polyps ISO RGD:735276 D RGD:9068941 20200609 RGD associated with Bronchial Hyperreactivity PMID:15007348|REF_RGD_ID:5128694 8905879 Il9 interleukin 9 gene DOID:9002221 Hyperplasia ISO RGD:735276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19342650 8905879 Il9 interleukin 9 gene DOID:9003281 Spontaneous Abortions ISO RGD:735276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8905879 Il9 interleukin 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8905879 Il9 interleukin 9 gene DOID:9005700 Airway Obstruction ISO RGD:735276 D RGD:9068941 20200609 RGD associated with Bronchitis, Chronic;mRNA:increased expression:respiratory system fluid/secretion, T cell PMID:14605067|REF_RGD_ID:5128696 8905879 Il9 interleukin 9 gene DOID:9006928 Viral Bronchiolitis ISO RGD:735276 D RGD:9068941 20200609 RGD PMID:15051283|REF_RGD_ID:5128692 8905879 Il9 interleukin 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735276 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8905887 Trim25 tripartite motif containing 25 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343933 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8905887 Trim25 tripartite motif containing 25 gene DOID:630 genetic disease ISO RGD:1343933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905903 Hacl1 2-hydroxyacyl-CoA lyase 1 gene DOID:0060417 3p deletion syndrome ISO RGD:1607054 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8905903 Hacl1 2-hydroxyacyl-CoA lyase 1 gene DOID:0110667 congenital myasthenic syndrome 5 ISO RGD:12352335 D RGD:9068941 20220630 OMIA Myasthenic syndrome, congenital, COLQ-related PMID:25166616|PMID:27080328|PMID:29405353|PMID:31769119|PMID:32668077 8905903 Hacl1 2-hydroxyacyl-CoA lyase 1 gene DOID:13580 cholestasis ISO RGD:1607054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8905903 Hacl1 2-hydroxyacyl-CoA lyase 1 gene DOID:630 genetic disease ISO RGD:1607054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905903 Hacl1 2-hydroxyacyl-CoA lyase 1 gene DOID:856 biotinidase deficiency ISO RGD:1607054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:20083419|PMID:28492532 8905903 Hacl1 2-hydroxyacyl-CoA lyase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1607054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8905923 Igsf8 immunoglobulin superfamily member 8 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 8905923 Igsf8 immunoglobulin superfamily member 8 gene DOID:0060484 EAST syndrome ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 8905923 Igsf8 immunoglobulin superfamily member 8 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8905923 Igsf8 immunoglobulin superfamily member 8 gene DOID:1540 parathyroid carcinoma ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8905923 Igsf8 immunoglobulin superfamily member 8 gene DOID:630 genetic disease ISO RGD:1322991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8905923 Igsf8 immunoglobulin superfamily member 8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8905934 Pias4 protein inhibitor of activated STAT 4 gene DOID:13938 amenorrhea ISO RGD:1318687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8905934 Pias4 protein inhibitor of activated STAT 4 gene DOID:630 genetic disease ISO RGD:1318687 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8905968 Rfx2 regulatory factor X2 gene DOID:0050591 tooth agenesis ISO RGD:1343231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 8905968 Rfx2 regulatory factor X2 gene DOID:630 genetic disease ISO RGD:1343231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906030 Znf787 zinc finger protein 787 gene DOID:13501 Moebius syndrome ISO RGD:1603274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 8906030 Znf787 zinc finger protein 787 gene DOID:630 genetic disease ISO RGD:1603274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906041 Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:630 genetic disease ISO RGD:1312070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906041 Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8906041 Chchd6 coiled-coil-helix-coiled-coil-helix domain containing 6 gene DOID:9270 alkaptonuria ISO RGD:1312070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8906053 Rtl6 retrotransposon Gag like 6 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1345067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8906053 Rtl6 retrotransposon Gag like 6 gene DOID:1059 intellectual disability ISO RGD:1345067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8906053 Rtl6 retrotransposon Gag like 6 gene DOID:303 substance-related disorder ISO RGD:1345067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8906053 Rtl6 retrotransposon Gag like 6 gene DOID:630 genetic disease ISO RGD:1345067 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906069 Irf4 interferon regulatory factor 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1317594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8906069 Irf4 interferon regulatory factor 4 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:translocation PMID:18987657|REF_RGD_ID:11526155 8906069 Irf4 interferon regulatory factor 4 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:15701085|REF_RGD_ID:11530023 8906069 Irf4 interferon regulatory factor 4 gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:translocation PMID:18987657|REF_RGD_ID:11526155 8906069 Irf4 interferon regulatory factor 4 gene DOID:0050873 follicular lymphoma severity ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:17296585|REF_RGD_ID:11530032 8906069 Irf4 interferon regulatory factor 4 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1317594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8906069 Irf4 interferon regulatory factor 4 gene DOID:0060901 lymphoplasmacytic lymphoma ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:23355206|REF_RGD_ID:11530052 8906069 Irf4 interferon regulatory factor 4 gene DOID:0070004 myeloid neoplasm ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:20585039|REF_RGD_ID:11530030 8906069 Irf4 interferon regulatory factor 4 gene DOID:0080600 COVID-19 ISO RGD:1317594 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 8906069 Irf4 interferon regulatory factor 4 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:20585039|PMID:21818355|PMID:25006123|REF_RGD_ID:11526159|REF_RGD_ID:11530020|REF_RGD_ID:11530030 8906069 Irf4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:SNP: :rs872071 (human) PMID:20731705|REF_RGD_ID:11530029 8906069 Irf4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:SNPs:3' utr:multiple PMID:20123861|REF_RGD_ID:11530031 8906069 Irf4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.L116R (human) PMID:21791429|REF_RGD_ID:11526158 8906069 Irf4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:23926303|REF_RGD_ID:11530026 8906069 Irf4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:20090783|REF_RGD_ID:11530021 8906069 Irf4 interferon regulatory factor 4 gene DOID:1040 chronic lymphocytic leukemia disease_progression ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:23897826|REF_RGD_ID:11526156 8906069 Irf4 interferon regulatory factor 4 gene DOID:1240 leukemia disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:23977280|REF_RGD_ID:11526157 8906069 Irf4 interferon regulatory factor 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317594 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:23589561|REF_RGD_ID:11530060 8906069 Irf4 interferon regulatory factor 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:1308050 D RGD:9068941 20200609 RGD PMID:25652434|REF_RGD_ID:11530061 8906069 Irf4 interferon regulatory factor 4 gene DOID:630 genetic disease ISO RGD:1317594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8906069 Irf4 interferon regulatory factor 4 gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1317594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES PMID:25741868 8906069 Irf4 interferon regulatory factor 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1317594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18758461 8906069 Irf4 interferon regulatory factor 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:12079517|PMID:12393648|REF_RGD_ID:11526160|REF_RGD_ID:11530024 8906069 Irf4 interferon regulatory factor 4 gene DOID:9003936 Cardiomegaly ISO RGD:1317595 D RGD:9068941 20200609 RGD PMID:23589561|REF_RGD_ID:11530060 8906069 Irf4 interferon regulatory factor 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1317594 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35915169 8906069 Irf4 interferon regulatory factor 4 gene DOID:9006853 Skin/Hair/Eye Pigmentation, Variation In, 8 ISO RGD:1317594 D RGD:7240710 20221214 OMIM 8906069 Irf4 interferon regulatory factor 4 gene DOID:9006853 Skin/Hair/Eye Pigmentation, Variation In, 8 ISO RGD:1317594 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: IRF4-related condition | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 8 PMID:18483556|PMID:24267888|PMID:25631878|PMID:25741868|PMID:28492532 8906069 Irf4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma ISO RGD:1317594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18568025 8906069 Irf4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:translocation PMID:10557056|REF_RGD_ID:11526161 8906069 Irf4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma disease_progression ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:17690696|REF_RGD_ID:11530019 8906069 Irf4 interferon regulatory factor 4 gene DOID:9538 multiple myeloma treatment ISO RGD:1317594 D RGD:9068941 20200609 RGD PMID:21707574|REF_RGD_ID:11530055 8906069 Irf4 interferon regulatory factor 4 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1317594 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs12203592 (human) PMID:19897031|REF_RGD_ID:11526162 8906087 Prrg4 proline rich and Gla domain 4 gene DOID:1059 intellectual disability ISO RGD:1346309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8906087 Prrg4 proline rich and Gla domain 4 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1346309 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 8906087 Prrg4 proline rich and Gla domain 4 gene DOID:630 genetic disease ISO RGD:1346309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906106 Sppl2a signal peptide peptidase like 2A gene DOID:0110803 hereditary spastic paraplegia 51 ISO RGD:1602994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 PMID:20972249 8906106 Sppl2a signal peptide peptidase like 2A gene DOID:2717 Bloom syndrome ISO RGD:1602994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8906106 Sppl2a signal peptide peptidase like 2A gene DOID:607 paraplegia ISO RGD:1602994 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 8906106 Sppl2a signal peptide peptidase like 2A gene DOID:630 genetic disease ISO RGD:1602994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8906106 Sppl2a signal peptide peptidase like 2A gene DOID:9000868 Immunodeficiency 86 ISO RGD:1602994 D RGD:7240710 20211020 OMIM 8906106 Sppl2a signal peptide peptidase like 2A gene DOID:9000868 Immunodeficiency 86 ISO RGD:1602994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 86 PMID:23472171|PMID:30127434 8906106 Sppl2a signal peptide peptidase like 2A gene DOID:9256 colorectal cancer ISO RGD:1602994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8906125 Rsbn1 round spermatid basic protein 1 gene DOID:0080690 RASopathy ISO RGD:1347428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8906125 Rsbn1 round spermatid basic protein 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1347428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8906125 Rsbn1 round spermatid basic protein 1 gene DOID:630 genetic disease ISO RGD:1347428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906143 Cct6a chaperonin containing TCP1 subunit 6A gene DOID:0050724 PSPH deficiency ISO RGD:1312394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 8906143 Cct6a chaperonin containing TCP1 subunit 6A gene DOID:12849 autistic disorder ISO RGD:1312394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8906143 Cct6a chaperonin containing TCP1 subunit 6A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8906143 Cct6a chaperonin containing TCP1 subunit 6A gene DOID:630 genetic disease ISO RGD:1312394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906171 CUNHXorf66 chromosome unknown CXorf66 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8906171 CUNHXorf66 chromosome unknown CXorf66 homolog gene DOID:12259 hemophilia B ISO RGD:1606098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 8906171 CUNHXorf66 chromosome unknown CXorf66 homolog gene DOID:12849 autistic disorder ISO RGD:1606098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8906171 CUNHXorf66 chromosome unknown CXorf66 homolog gene DOID:630 genetic disease ISO RGD:1606098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906178 Clk1 CDC like kinase 1 gene DOID:630 genetic disease ISO RGD:1322944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906178 Clk1 CDC like kinase 1 gene DOID:8469 influenza ISO RGD:1550637 D RGD:9068941 20221110 RGD PMID:34883209|REF_RGD_ID:155641258 8906178 Clk1 CDC like kinase 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1322944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8906178 Clk1 CDC like kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8906178 Clk1 CDC like kinase 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1322944 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8906200 Raver1 ribonucleoprotein, PTB binding 1 gene DOID:630 genetic disease ISO RGD:1603914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906219 Vgll3 vestigial like family member 3 gene DOID:630 genetic disease ISO RGD:1602804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906226 Rab4b RAB4B, member RAS oncogene family gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8906226 Rab4b RAB4B, member RAS oncogene family gene DOID:1342 congenital hypoplastic anemia ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8906226 Rab4b RAB4B, member RAS oncogene family gene DOID:2340 craniosynostosis ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8906226 Rab4b RAB4B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:733928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906226 Rab4b RAB4B, member RAS oncogene family gene DOID:9002304 Prostatic Neoplasms ISO RGD:733928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8906226 Rab4b RAB4B, member RAS oncogene family gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8906226 Rab4b RAB4B, member RAS oncogene family gene DOID:9269 maple syrup urine disease ISO RGD:733928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0050127 sinusitis ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18391768 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735517 D RGD:9068941 20220908 RGD protein:increased expression:saliva PMID:29199150|REF_RGD_ID:153350131 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735517 D RGD:9068941 20220915 RGD protein:decreased expression:saliva PMID:33564003|REF_RGD_ID:153350144 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:2187 D RGD:9068941 20220915 RGD PMID:27982256|REF_RGD_ID:153352323 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:2187 D RGD:9068941 20220915 RGD associated with type 2 diabetes mellitus; PMID:29608898|REF_RGD_ID:153352320 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:10283 prostate cancer ISO RGD:735517 D RGD:9068941 20220915 RGD protein:increased expression:serum PMID:11309332|REF_RGD_ID:153350158 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:10286 prostate carcinoma exacerbates ISO RGD:735517 D RGD:9068941 20220915 RGD PMID:11309332|REF_RGD_ID:153350158 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:11612 polycystic ovary syndrome ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:1826 epilepsy ISO RGD:2187 D RGD:9068941 20220915 RGD protein:decreased expression:hippocampal neuron PMID:28576733|REF_RGD_ID:153350152 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:219 colon cancer severity ISO RGD:735517 D RGD:9068941 20220909 RGD protein:increased expression:colon,serum PMID:25561225|REF_RGD_ID:153350136 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:299 adenocarcinoma ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978557 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:3021 acute kidney failure disease_progression ISO RGD:735517 D RGD:9068941 20220915 RGD PMID:23849457|REF_RGD_ID:153350150 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:3328 temporal lobe epilepsy ISO RGD:735517 D RGD:9068941 20220915 RGD protein:decreased expression:brain neuron PMID:28576733|REF_RGD_ID:153350152 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:735517 D RGD:9068941 20220909 RGD PMID:28053542|REF_RGD_ID:153350138 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:3910 lung adenocarcinoma ISO RGD:735517 D RGD:9068941 20220909 RGD mRNA,protein:increased expression:lung PMID:17724461|REF_RGD_ID:153350134 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:5082 liver cirrhosis ISO RGD:2187 D RGD:9068941 20220908 RGD mRNA:decreased expression:liver PMID:26902423|REF_RGD_ID:153350133 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:5082 liver cirrhosis ISO RGD:735517 D RGD:9068941 20220908 RGD associated with hepatitis B;mRNA:decreased expression:liver PMID:26902423|REF_RGD_ID:153350133 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:5082 liver cirrhosis ISO RGD:735517 D RGD:9068941 20220908 RGD associated with hepatocellular carcinoma;protein:decreased expression:liver: PMID:22625427|REF_RGD_ID:153350130 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:5517 stomach carcinoma disease_progression ISO RGD:735517 D RGD:9068941 20220915 RGD PMID:23935945|REF_RGD_ID:153350143 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:630 genetic disease ISO RGD:735517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:684 hepatocellular carcinoma ISO RGD:2187 D RGD:9068941 20220908 RGD mRNA:decreased expression:liver PMID:26902423|REF_RGD_ID:153350133 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:684 hepatocellular carcinoma ISO RGD:735517 D RGD:9068941 20220908 RGD associated with hepatitis B;mRNA:decreased expression:liver PMID:26902423|REF_RGD_ID:153350133 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735517 D RGD:9068941 20220908 RGD PMID:22625427|PMID:27993894|REF_RGD_ID:153350130|REF_RGD_ID:153350132 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:7148 rheumatoid arthritis ISO RGD:2187 D RGD:9068941 20220915 RGD mRNA:decreased expression:liver PMID:18372237|REF_RGD_ID:153352318 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:784 chronic kidney disease ISO RGD:10223 D RGD:9068941 20220915 RGD protein:increased expression:white adipose tissue: PMID:23423258|REF_RGD_ID:153352319 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:784 chronic kidney disease ISO RGD:2187 D RGD:9068941 20220915 RGD protein:increased expression:white adipose tissue: PMID:23423258|REF_RGD_ID:153352319 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:784 chronic kidney disease ISO RGD:735517 D RGD:9068941 20220915 RGD protein:increased expression:plasma,white adipose tissue: PMID:23423258|REF_RGD_ID:153352319 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9002304 Prostatic Neoplasms ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9003139 Cardiac Fibrosis exacerbates ISO RGD:10223 D RGD:9068941 20220915 RGD PMID:25788525|REF_RGD_ID:153350149 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9004303 Tubulointerstitial Fibrosis exacerbates ISO RGD:10223 D RGD:9068941 20220915 RGD associated with ureteral obstruction; PMID:25788525|REF_RGD_ID:153350149 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9004303 Tubulointerstitial Fibrosis treatment ISO RGD:10223 D RGD:9068941 20220915 RGD associated with ureteral obstruction; PMID:25788525|REF_RGD_ID:153350149 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9004968 Yin Deficiency treatment ISO RGD:2187 D RGD:9068941 20220915 RGD PMID:29729385|REF_RGD_ID:153350148 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9005172 Lung Neoplasms ISO RGD:735517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978557 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9007346 Cachexia ISO RGD:735517 D RGD:9068941 20220915 RGD associated with gastrointestinal system cancer;mRNA,protein:increased expression:subcutaneous adipose tissue: PMID:21245862|REF_RGD_ID:153350145 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9009121 lung metastasis ameliorates ISO RGD:735517 D RGD:9068941 20220908 RGD associated with hepatocellular carcinoma; PMID:26902423|PMID:27993894|REF_RGD_ID:153350132|REF_RGD_ID:153350133 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9256 colorectal cancer ISO RGD:735517 D RGD:9068941 20220908 RGD mRNA,protein:decreased expression:colorectum: PMID:32525817|REF_RGD_ID:153350127 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9256 colorectal cancer ISO RGD:735517 D RGD:9068941 20220915 RGD protein:increased expression:serum PMID:29755407|REF_RGD_ID:153350147 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9256 colorectal cancer disease_progression ISO RGD:735517 D RGD:9068941 20220909 RGD PMID:23393224|REF_RGD_ID:153350137 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9970 obesity ISO RGD:10223 D RGD:9068941 20220915 RGD mRNA, protein:decreased expression:fat pad, liver,plasma PMID:19934249|REF_RGD_ID:153350157 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9970 obesity ISO RGD:2187 D RGD:9068941 20220915 RGD mRNA:decreased expression:fat pad PMID:19934249|REF_RGD_ID:153350157 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9970 obesity ISO RGD:2187 D RGD:9068941 20220915 RGD protein:decreased expression:plasma PMID:21136593|REF_RGD_ID:153350156 8906253 Azgp1 alpha-2-glycoprotein 1, zinc-binding gene DOID:9970 obesity ISO RGD:735517 D RGD:9068941 20220915 RGD associated with colorectal cancer; protein:decreased expression:subcutaneous white adipose tissue PMID:29755407|REF_RGD_ID:153350147 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:0060041 autism spectrum disorder ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1345881 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1345881 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:0111996 immunodeficiency 51 ISO RGD:1345881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:1059 intellectual disability ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:11198 DiGeorge syndrome ISO RGD:1345881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:11372 megacolon ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:11612 polycystic ovary syndrome ISO RGD:1345881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:12583 velocardiofacial syndrome ISO RGD:1345881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:12849 autistic disorder ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:1588 thrombocytopenia ISO RGD:1345881 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10887115|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:1682 congenital heart disease ISO RGD:1345881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15213848 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:1826 epilepsy ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:2213 hemorrhagic disease ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1345881 D RGD:7240710 20180130 OMIM 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome ISO RGD:1345881 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome PMID:10887115|PMID:17109744|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362|PMID:34355501 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:2217 Bernard-Soulier syndrome severity ISO RGD:1345881 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:c.281A>G(p.D94G)(human) PMID:28131619|REF_RGD_ID:13464128 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:3410 carotid artery thrombosis ISO RGD:732124 D RGD:9068941 20200609 RGD PMID:17095718|REF_RGD_ID:11040529 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:5419 schizophrenia ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:612 primary immunodeficiency disease ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:630 genetic disease ISO RGD:1345881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9003121 Thromboembolism ISO RGD:732124 D RGD:9068941 20200609 RGD PMID:17095718|REF_RGD_ID:11040529 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9003871 Venous Thrombosis ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9004082 Mesenteric Ischemia ISO RGD:732124 D RGD:9068941 20200609 RGD PMID:17095718|REF_RGD_ID:11040529 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9006593 Bernard-Soulier Syndrome, Type B ISO RGD:1345881 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bernard-Soulier syndrome, type B | ClinVar Annotator: match by term: Macrothrombocytopenia, familial, Bernard-Soulier type PMID:10887115|PMID:18414213|PMID:25741868|PMID:31064749|PMID:32581362|PMID:34355501|PMID:7633430|PMID:8703016|PMID:9116284 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1345881 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8906261 Gp1bb glycoprotein Ib platelet subunit beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1345881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15213848 8906293 Fcer1g Fc fragment of IgE receptor Ig gene DOID:0060500 drug allergy ISO RGD:736226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18534082|PMID:18595682 8906293 Fcer1g Fc fragment of IgE receptor Ig gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8906293 Fcer1g Fc fragment of IgE receptor Ig gene DOID:1540 parathyroid carcinoma ISO RGD:736226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8906293 Fcer1g Fc fragment of IgE receptor Ig gene DOID:630 genetic disease ISO RGD:736226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906293 Fcer1g Fc fragment of IgE receptor Ig gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18595682 8906293 Fcer1g Fc fragment of IgE receptor Ig gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8906293 Fcer1g Fc fragment of IgE receptor Ig gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1343905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary sensory radicular neuropathy, recessive form | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:25741868|PMID:26467025|PMID:28492532 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1343905 D RGD:7240710 20180130 OMIM 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1343905 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ACROOSTEOLYSIS, NEUROGENIC | ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15060842|PMID:15455397|PMID:15911806|PMID:16199547|PMID:16534117|PMID:16636245|PMID:16946995|PMID:17344846|PMID:17576681|PMID:18521183|PMID:18580052|PMID:19651702|PMID:21089229|PMID:21530900|PMID:21625937|PMID:22302274|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066579|PMID:27671536|PMID:27765018|PMID:28422281|PMID:28492532|PMID:29701257|PMID:30497409|PMID:31132985|PMID:9536098 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1343905 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15060842|PMID:15455397|PMID:15911806|PMID:16199547|PMID:16534117|PMID:16636245|PMID:16946995|PMID:17344846|PMID:17576681|PMID:18521183|PMID:18580052|PMID:19651702|PMID:21089229|PMID:21530900|PMID:21625937|PMID:22073419|PMID:22302274|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066579|PMID:27671536|PMID:27765018|PMID:28422281|PMID:28492532|PMID:29701257|PMID:30497409|PMID:31132985|PMID:31949730|PMID:33726816|PMID:9536098 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1343905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II PMID:28492532 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:15911806|PMID:16534117|PMID:16636245|PMID:18521183 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:10763 hypertension ISO RGD:1343905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:10763 hypertension ISO RGD:1343905 D RGD:9068941 20200609 RGD PMID:16301342|REF_RGD_ID:1580829 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:224 transient cerebral ischemia ISO RGD:621141 D RGD:9068941 20200609 RGD PMID:27798271|REF_RGD_ID:14398833 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:327 syringomyelia ISO RGD:1343905 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Morvan disease PMID:28492532 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1343905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:25741868|PMID:26467025|PMID:28492532 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:557 kidney disease ISO RGD:1343905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21865292 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:630 genetic disease ISO RGD:1343905 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15060842|PMID:15911806|PMID:16636245|PMID:16946995|PMID:17576681|PMID:18580052|PMID:21089229|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25741868|PMID:26467025|PMID:27671536|PMID:27765018|PMID:28422281|PMID:28492532|PMID:29701257|PMID:31949730|PMID:33726816|PMID:9536098 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1343905 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:25741868|PMID:26467025|PMID:28492532 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:9006034 Pseudohypoaldosteronism, Type IIC ISO RGD:1343905 D RGD:7240710 20180130 OMIM 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:9006034 Pseudohypoaldosteronism, Type IIC ISO RGD:1343905 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C PMID:10869238|PMID:11498583|PMID:16199547|PMID:17344846|PMID:18580052|PMID:21530900|PMID:22073419|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33726816 8906302 Wnk1 WNK lysine deficient protein kinase 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1343905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8906359 LOC102008931 chromosome unknown open reading frame, human C17orf49 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8906359 LOC102008931 chromosome unknown open reading frame, human C17orf49 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1606738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8906359 LOC102008931 chromosome unknown open reading frame, human C17orf49 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606738 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8906359 LOC102008931 chromosome unknown open reading frame, human C17orf49 gene DOID:12177 common variable immunodeficiency ISO RGD:1606738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8906359 LOC102008931 chromosome unknown open reading frame, human C17orf49 gene DOID:2729 dyskeratosis congenita ISO RGD:1606738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8906379 Mcm6 minichromosome maintenance complex component 6 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1352854 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 8906379 Mcm6 minichromosome maintenance complex component 6 gene DOID:630 genetic disease ISO RGD:1352854 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8906379 Mcm6 minichromosome maintenance complex component 6 gene DOID:9006147 Lactose Intolerance, Adult Type ISO RGD:1352854 D RGD:7240710 20180130 OMIM 8906379 Mcm6 minichromosome maintenance complex component 6 gene DOID:9006147 Lactose Intolerance, Adult Type ISO RGD:1352854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADULT LACTASE DEFICIENCY | ClinVar Annotator: match by term: Lactose intolerance, adult type PMID:25741868 8906405 Dtx3l deltex E3 ubiquitin ligase 3L gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8906405 Dtx3l deltex E3 ubiquitin ligase 3L gene DOID:630 genetic disease ISO RGD:1344833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906405 Dtx3l deltex E3 ubiquitin ligase 3L gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8906405 Dtx3l deltex E3 ubiquitin ligase 3L gene DOID:9270 alkaptonuria ISO RGD:1344833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8906414 Tspyl1 TSPY like 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1348944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8906414 Tspyl1 TSPY like 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1348944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8906414 Tspyl1 TSPY like 1 gene DOID:0080600 COVID-19 ISO RGD:1348944 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8906414 Tspyl1 TSPY like 1 gene DOID:14447 gonadal dysgenesis ISO RGD:1348944 D RGD:9068941 20200609 RGD sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 PMID:15273283|REF_RGD_ID:1599672 8906414 Tspyl1 TSPY like 1 gene DOID:630 genetic disease ISO RGD:1348944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906414 Tspyl1 TSPY like 1 gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1348944 D RGD:7240710 20180130 OMIM 8906414 Tspyl1 TSPY like 1 gene DOID:9000938 Sudden Infant Death with Dysgenesis of the Testes Syndrome ISO RGD:1348944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden infant death with dysgenesis of the testes syndrome PMID:15273283|PMID:25741868 8906414 Tspyl1 TSPY like 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1348944 D RGD:9068941 20200609 RGD sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 PMID:15273283|REF_RGD_ID:1599672 8906420 Ttyh1 tweety family member 1 gene DOID:630 genetic disease ISO RGD:1320816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906443 Ctxn2 cortexin 2 gene DOID:14323 Marfan syndrome ISO RGD:1351200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 8906443 Ctxn2 cortexin 2 gene DOID:2717 Bloom syndrome ISO RGD:1351200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8906443 Ctxn2 cortexin 2 gene DOID:630 genetic disease ISO RGD:1351200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906443 Ctxn2 cortexin 2 gene DOID:9256 colorectal cancer ISO RGD:1351200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8906453 Col6a6 collagen type VI alpha 6 chain gene DOID:0111947 immunodeficiency 21 ISO RGD:3052729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8906453 Col6a6 collagen type VI alpha 6 chain gene DOID:630 genetic disease ISO RGD:3052729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8906453 Col6a6 collagen type VI alpha 6 chain gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:3052729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 8906453 Col6a6 collagen type VI alpha 6 chain gene DOID:9270 alkaptonuria ISO RGD:3052729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8906494 Ralb RAS like proto-oncogene B gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:1351800 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:17174914|REF_RGD_ID:14394417 8906494 Ralb RAS like proto-oncogene B gene DOID:630 genetic disease ISO RGD:1351800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906506 Fbxl5 F-box and leucine rich repeat protein 5 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315757 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8906506 Fbxl5 F-box and leucine rich repeat protein 5 gene DOID:10283 prostate cancer ISO RGD:1315757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8906506 Fbxl5 F-box and leucine rich repeat protein 5 gene DOID:630 genetic disease ISO RGD:1315757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906525 Teddm1 transmembrane epididymal protein 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8906525 Teddm1 transmembrane epididymal protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8906525 Teddm1 transmembrane epididymal protein 1 gene DOID:630 genetic disease ISO RGD:1606464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906525 Teddm1 transmembrane epididymal protein 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8906525 Teddm1 transmembrane epididymal protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8906530 Gpx7 glutathione peroxidase 7 gene DOID:630 genetic disease ISO RGD:1315932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906530 Gpx7 glutathione peroxidase 7 gene DOID:7941 Barrett's adenocarcinoma ISO RGD:1315932 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 8906530 Gpx7 glutathione peroxidase 7 gene DOID:9206 Barrett's esophagus ISO RGD:1315932 D RGD:9068941 20220630 RGD DNA:hypermethylation:promoter PMID:18664505|REF_RGD_ID:151665749 8906538 Tmem45b transmembrane protein 45B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8906538 Tmem45b transmembrane protein 45B gene DOID:5419 schizophrenia ISO RGD:1348060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8906538 Tmem45b transmembrane protein 45B gene DOID:630 genetic disease ISO RGD:1348060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906538 Tmem45b transmembrane protein 45B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8906538 Tmem45b transmembrane protein 45B gene DOID:9007661 Dwarfism ISO RGD:1348060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8906564 Snx15 sorting nexin 15 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1314058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8906564 Snx15 sorting nexin 15 gene DOID:1059 intellectual disability ISO RGD:1314058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8906564 Snx15 sorting nexin 15 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1314058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8906564 Snx15 sorting nexin 15 gene DOID:2746 glycogen storage disease V ISO RGD:1314058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8906564 Snx15 sorting nexin 15 gene DOID:3070 high grade glioma ISO RGD:1314058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8906564 Snx15 sorting nexin 15 gene DOID:630 genetic disease ISO RGD:1314058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320131 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:1793 pancreatic cancer ISO RGD:1320131 D RGD:9068941 20230128 RGD mRNA, protein:decreased expression:pancreas (human) PMID:28351319|REF_RGD_ID:155804299 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:4362 cervical cancer ISO RGD:1320131 D RGD:9068941 20230128 RGD human cells in mouse model PMID:35853859|REF_RGD_ID:155882439 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:4362 cervical cancer severity ISO RGD:1320131 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:cervix (human) PMID:35853859|REF_RGD_ID:155882439 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:5768 Nager acrofacial dysostosis ISO RGD:1320131 D RGD:7240710 20180130 OMIM 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:5768 Nager acrofacial dysostosis ISO RGD:1320131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nager syndrome PMID:22541558|PMID:23568615|PMID:24003905|PMID:25741868|PMID:28492532 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:5812 MHC class II deficiency ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:630 genetic disease ISO RGD:1320131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22541558|PMID:23568615|PMID:24003905|PMID:25741868|PMID:26228803|PMID:28492532 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1309667 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (rat) PMID:29059470|REF_RGD_ID:155791679 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320131 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:liver (human) PMID:29059470|REF_RGD_ID:155791679 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320131 D RGD:9068941 20230128 RGD human cells in mouse model PMID:30391496|REF_RGD_ID:155804298 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1320131 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:liver(human) PMID:30391496|REF_RGD_ID:155804298 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1320132 D RGD:9068941 20230105 RGD PMID:29059470|REF_RGD_ID:155791679 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:9004538 Hearing Loss ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:25741868 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:9005616 Micrognathism ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:9009121 lung metastasis ISO RGD:1320131 D RGD:9068941 20230128 RGD human cells in mouse model PMID:30391496|REF_RGD_ID:155804298 8906577 Sf3b4 splicing factor 3b subunit 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8906587 Fam149b1 family with sequence similarity 149 member B1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1351219 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:30905400 8906587 Fam149b1 family with sequence similarity 149 member B1 gene DOID:630 genetic disease ISO RGD:1351219 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8906587 Fam149b1 family with sequence similarity 149 member B1 gene DOID:9009141 Joubert Syndrome 36 ISO RGD:1351219 D RGD:7240710 20200226 OMIM 8906587 Fam149b1 family with sequence similarity 149 member B1 gene DOID:9009141 Joubert Syndrome 36 ISO RGD:1351219 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Joubert syndrome 36 PMID:25741868|PMID:30905400 8906612 Tmem50b transmembrane protein 50B gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8906612 Tmem50b transmembrane protein 50B gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8906612 Tmem50b transmembrane protein 50B gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8906612 Tmem50b transmembrane protein 50B gene DOID:0111995 immunodeficiency 28 ISO RGD:1316828 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29106381|PMID:9536098 8906612 Tmem50b transmembrane protein 50B gene DOID:630 genetic disease ISO RGD:1316828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906612 Tmem50b transmembrane protein 50B gene DOID:9004697 Interferon Gamma, Receptor 1, Deficiency ISO RGD:1316828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interferon gamma receptor deficiency PMID:28492532 8906612 Tmem50b transmembrane protein 50B gene DOID:9005698 ZTTK Syndrome ISO RGD:1316828 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8906628 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8906628 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0060257 dyschromatosis symmetrica hereditaria ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:22974014|PMID:28492532 8906628 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8906628 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8906628 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1313256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8906628 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8906628 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:5812 MHC class II deficiency ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8906628 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:630 genetic disease ISO RGD:1313256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906628 Ube2q1 ubiquitin conjugating enzyme E2 Q1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8906653 Sp5 Sp5 transcription factor gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1318302 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8906653 Sp5 Sp5 transcription factor gene DOID:630 genetic disease ISO RGD:1318302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906653 Sp5 Sp5 transcription factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8906659 Arhgap24 Rho GTPase activating protein 24 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1315415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 8906659 Arhgap24 Rho GTPase activating protein 24 gene DOID:1184 nephrotic syndrome ISO RGD:1315415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 8906659 Arhgap24 Rho GTPase activating protein 24 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1315415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8906659 Arhgap24 Rho GTPase activating protein 24 gene DOID:630 genetic disease ISO RGD:1315415 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532 8906704 Tro trophinin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8906704 Tro trophinin gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1605121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8906704 Tro trophinin gene DOID:12849 autistic disorder ISO RGD:1605121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8906704 Tro trophinin gene DOID:630 genetic disease ISO RGD:1605121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906727 Slc7a1 solute carrier family 7 member 1 gene DOID:630 genetic disease ISO RGD:736349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906727 Slc7a1 solute carrier family 7 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8906727 Slc7a1 solute carrier family 7 member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11401523 8906745 Ube2d4 ubiquitin conjugating enzyme E2 D4 (putative) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8906745 Ube2d4 ubiquitin conjugating enzyme E2 D4 (putative) gene DOID:630 genetic disease ISO RGD:1347506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906764 Mrps9 mitochondrial ribosomal protein S9 gene DOID:630 genetic disease ISO RGD:1315244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906784 Srxn1 sulfiredoxin 1 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1316466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 8906784 Srxn1 sulfiredoxin 1 gene DOID:630 genetic disease ISO RGD:1316466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906784 Srxn1 sulfiredoxin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8906784 Srxn1 sulfiredoxin 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1316466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 8906792 Ehd1 EH domain containing 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1319124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8906792 Ehd1 EH domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1319124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8906792 Ehd1 EH domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8906792 Ehd1 EH domain containing 1 gene DOID:2746 glycogen storage disease V ISO RGD:1319124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8906792 Ehd1 EH domain containing 1 gene DOID:3070 high grade glioma ISO RGD:1319124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8906792 Ehd1 EH domain containing 1 gene DOID:630 genetic disease ISO RGD:1319124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906792 Ehd1 EH domain containing 1 gene DOID:9000918 Disease Progression ISO RGD:1319124 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35616188 8906792 Ehd1 EH domain containing 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1319124 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35616188 8906792 Ehd1 EH domain containing 1 gene DOID:9970 obesity ISO RGD:1309017 D RGD:9068941 20200609 RGD PMID:21365757|REF_RGD_ID:8661255 8906806 Bckdk branched chain keto acid dehydrogenase kinase gene DOID:0060041 autism spectrum disorder ISO RGD:69215 D RGD:9068941 20220825 MouseDO 8906806 Bckdk branched chain keto acid dehydrogenase kinase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:69214 D RGD:7240710 20180130 OMIM 8906806 Bckdk branched chain keto acid dehydrogenase kinase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:69214 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:17576681|PMID:22956686|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36729635|PMID:9536098 8906806 Bckdk branched chain keto acid dehydrogenase kinase gene DOID:1059 intellectual disability ISO RGD:69214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8906806 Bckdk branched chain keto acid dehydrogenase kinase gene DOID:14228 oligospermia ISO RGD:2198 D RGD:9068941 20201015 RGD DNA:missense mutation:cds:G369E (rat) PMID:27472223|REF_RGD_ID:39131293 8906806 Bckdk branched chain keto acid dehydrogenase kinase gene DOID:1826 epilepsy ISO RGD:69214 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 8906806 Bckdk branched chain keto acid dehydrogenase kinase gene DOID:630 genetic disease ISO RGD:69214 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8906806 Bckdk branched chain keto acid dehydrogenase kinase gene DOID:9269 maple syrup urine disease ISO RGD:69214 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:25741868|PMID:35205278 8906834 Suco SUN domain containing ossification factor gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1621340 D RGD:9068941 20220825 MouseDO OMIM:610967 8906834 Suco SUN domain containing ossification factor gene DOID:1540 parathyroid carcinoma ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8906834 Suco SUN domain containing ossification factor gene DOID:630 genetic disease ISO RGD:1347236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8906834 Suco SUN domain containing ossification factor gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8906834 Suco SUN domain containing ossification factor gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8906834 Suco SUN domain containing ossification factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8906872 Ddit4l DNA damage inducible transcript 4 like gene DOID:1909 melanoma ISO RGD:1342784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8906872 Ddit4l DNA damage inducible transcript 4 like gene DOID:630 genetic disease ISO RGD:1342784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906879 Klb klotho beta gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1604985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 8906879 Klb klotho beta gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1604985 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 8906879 Klb klotho beta gene DOID:10584 retinitis pigmentosa ISO RGD:1331989 D RGD:9068941 20200609 RGD protein:increased expression:outer nuclear layer: PMID:23796581|REF_RGD_ID:10403060 8906879 Klb klotho beta gene DOID:1279 ocular motility disease ISO RGD:1604985 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ocular motility disease PMID:25741868 8906879 Klb klotho beta gene DOID:13938 amenorrhea ISO RGD:1604985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 8906879 Klb klotho beta gene DOID:630 genetic disease ISO RGD:1604985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8906879 Klb klotho beta gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1604985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8906889 Khsrp KH-type splicing regulatory protein gene DOID:0080490 mucolipidosis type IV ISO RGD:1346672 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8906889 Khsrp KH-type splicing regulatory protein gene DOID:5409 lung small cell carcinoma ISO RGD:1346672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8906889 Khsrp KH-type splicing regulatory protein gene DOID:630 genetic disease ISO RGD:1346672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906969 Fam3c FAM3 metabolism regulating signaling molecule C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8906969 Fam3c FAM3 metabolism regulating signaling molecule C gene DOID:630 genetic disease ISO RGD:1345832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8906986 Kif22 kinesin family member 22 gene DOID:0060019 coronin-1A deficiency ISO RGD:1323577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8906986 Kif22 kinesin family member 22 gene DOID:0060041 autism spectrum disorder ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8906986 Kif22 kinesin family member 22 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1323577 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8906986 Kif22 kinesin family member 22 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1323577 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8906986 Kif22 kinesin family member 22 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1323577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8906986 Kif22 kinesin family member 22 gene DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 ISO RGD:1323577 D RGD:7240710 20180130 OMIM 8906986 Kif22 kinesin family member 22 gene DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 ISO RGD:1323577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations PMID:12727876|PMID:19277648|PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28492532|PMID:32860008 8906986 Kif22 kinesin family member 22 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1323577 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8906986 Kif22 kinesin family member 22 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1323577 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8906986 Kif22 kinesin family member 22 gene DOID:12849 autistic disorder ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8906986 Kif22 kinesin family member 22 gene DOID:5419 schizophrenia ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8906986 Kif22 kinesin family member 22 gene DOID:630 genetic disease ISO RGD:1323577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12727876|PMID:19277648|PMID:22152677|PMID:22152678|PMID:25256152|PMID:25741868|PMID:28166811|PMID:28492532|PMID:32860008 8906986 Kif22 kinesin family member 22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8906986 Kif22 kinesin family member 22 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1323577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8907005 Slc2a11 solute carrier family 2 member 11 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:1354509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 8907005 Slc2a11 solute carrier family 2 member 11 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1354509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 8907005 Slc2a11 solute carrier family 2 member 11 gene DOID:1826 epilepsy ISO RGD:1354509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8907005 Slc2a11 solute carrier family 2 member 11 gene DOID:5419 schizophrenia ISO RGD:1354509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8907005 Slc2a11 solute carrier family 2 member 11 gene DOID:630 genetic disease ISO RGD:1354509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907025 Smad7 SMAD family member 7 gene DOID:0060224 atrial fibrillation ISO RGD:1344957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8907025 Smad7 SMAD family member 7 gene DOID:1059 intellectual disability ISO RGD:1344957 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8907025 Smad7 SMAD family member 7 gene DOID:10952 nephritis ISO RGD:69314 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11170839|REF_RGD_ID:2315074 8907025 Smad7 SMAD family member 7 gene DOID:1380 endometrial cancer disease_progression ISO RGD:1344957 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:15661223|REF_RGD_ID:2299963 8907025 Smad7 SMAD family member 7 gene DOID:1793 pancreatic cancer ISO RGD:1344957 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:10498890|REF_RGD_ID:14394510 8907025 Smad7 SMAD family member 7 gene DOID:3770 pulmonary fibrosis ISO RGD:1344957 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23590892 8907025 Smad7 SMAD family member 7 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:1344957 D RGD:9068941 20200609 RGD human cell and construct in a mouse model PMID:10498890|REF_RGD_ID:14394510 8907025 Smad7 SMAD family member 7 gene DOID:5082 liver cirrhosis ISO RGD:1344957 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma; mRNA:increased expression:liver (human) PMID:25602745|REF_RGD_ID:14401589 8907025 Smad7 SMAD family member 7 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8907025 Smad7 SMAD family member 7 gene DOID:630 genetic disease ISO RGD:1344957 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8907025 Smad7 SMAD family member 7 gene DOID:6432 pulmonary hypertension ISO RGD:69314 D RGD:9068941 20200609 RGD PMID:17347486|REF_RGD_ID:1643222 8907025 Smad7 SMAD family member 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1344957 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:25602745|REF_RGD_ID:14401589 8907025 Smad7 SMAD family member 7 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:69314 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 8907025 Smad7 SMAD family member 7 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344957 D RGD:9068941 20200609 RGD DNA:polymorphism:cds PMID:11078792|REF_RGD_ID:2300008 8907025 Smad7 SMAD family member 7 gene DOID:9004018 Paraquat Lung ISO RGD:1344957 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23590892 8907025 Smad7 SMAD family member 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17934461 8907025 Smad7 SMAD family member 7 gene DOID:9256 colorectal cancer ISO RGD:1344957 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 PMID:17934461|PMID:18372901|PMID:18372905|PMID:25741868 8907025 Smad7 SMAD family member 7 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1344957 D RGD:7240710 20200226 OMIM 8907039 Micu2 mitochondrial calcium uptake 2 gene DOID:630 genetic disease ISO RGD:1353196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907057 Ctnna2 catenin alpha 2 gene DOID:0050453 lissencephaly ISO RGD:1312865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30013181 8907057 Ctnna2 catenin alpha 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1312865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8907057 Ctnna2 catenin alpha 2 gene DOID:630 genetic disease ISO RGD:1312865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907057 Ctnna2 catenin alpha 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1312865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 8907057 Ctnna2 catenin alpha 2 gene DOID:9001005 Complex Cortical Dysplasia with Other Brain Malformations 9 ISO RGD:1312865 D RGD:7240710 20190315 OMIM 8907057 Ctnna2 catenin alpha 2 gene DOID:9001005 Complex Cortical Dysplasia with Other Brain Malformations 9 ISO RGD:1312865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9 PMID:25741868|PMID:30013181 8907098 Wfdc5 WAP four-disulfide core domain 5 gene DOID:2234 focal epilepsy ISO RGD:1312741 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8907098 Wfdc5 WAP four-disulfide core domain 5 gene DOID:630 genetic disease ISO RGD:1312741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907098 Wfdc5 WAP four-disulfide core domain 5 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1312741 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8907106 Znf8 zinc finger protein 8 gene DOID:630 genetic disease ISO RGD:1321682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907127 Pou4f3 POU class 4 homeobox 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1321371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 8907127 Pou4f3 POU class 4 homeobox 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321371 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8907127 Pou4f3 POU class 4 homeobox 3 gene DOID:0110546 autosomal dominant nonsyndromic deafness 15 ISO RGD:1321371 D RGD:7240710 20180130 OMIM 8907127 Pou4f3 POU class 4 homeobox 3 gene DOID:0110546 autosomal dominant nonsyndromic deafness 15 ISO RGD:1321371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition PMID:14585957|PMID:18228599|PMID:20434433|PMID:24033266|PMID:24260153|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29850532|PMID:30311386|PMID:32684921|PMID:32747562|PMID:9506947 8907127 Pou4f3 POU class 4 homeobox 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1321371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:25741868 8907127 Pou4f3 POU class 4 homeobox 3 gene DOID:630 genetic disease ISO RGD:1321371 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 8907127 Pou4f3 POU class 4 homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8907127 Pou4f3 POU class 4 homeobox 3 gene DOID:9004538 Hearing Loss ISO RGD:1321371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 8907127 Pou4f3 POU class 4 homeobox 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321371 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8907127 Pou4f3 POU class 4 homeobox 3 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1321371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:28492532 8907127 Pou4f3 POU class 4 homeobox 3 gene DOID:9008681 Deafness ISO RGD:1321371 D RGD:9068941 20200609 RGD PMID:9506947|REF_RGD_ID:1599168 8907133 Gk glycerol kinase gene DOID:0060363 glycerol kinase deficiency ISO RGD:1344759 D RGD:7240710 20180130 OMIM 8907133 Gk glycerol kinase gene DOID:0060363 glycerol kinase deficiency ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GK-related condition | ClinVar Annotator: match by term: GK1 deficiency | ClinVar Annotator: match by term: Hyperglycerolemia PMID:10736265|PMID:10737976|PMID:25741868|PMID:8651297|PMID:9719371 8907133 Gk glycerol kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8907133 Gk glycerol kinase gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1344759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 8907133 Gk glycerol kinase gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1344759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 8907133 Gk glycerol kinase gene DOID:12849 autistic disorder ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8907133 Gk glycerol kinase gene DOID:13810 familial hypercholesterolemia ISO RGD:70893 D RGD:9068941 20200609 RGD PMID:10642898|REF_RGD_ID:13702898 8907133 Gk glycerol kinase gene DOID:630 genetic disease ISO RGD:1344759 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8907133 Gk glycerol kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8907133 Gk glycerol kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8907133 Gk glycerol kinase gene DOID:9007102 Myocardial Ischemia ISO RGD:1344759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8907133 Gk glycerol kinase gene DOID:9008086 Developmental Disabilities ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8907133 Gk glycerol kinase gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1344759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8907164 Cpa5 carboxypeptidase A5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8907164 Cpa5 carboxypeptidase A5 gene DOID:630 genetic disease ISO RGD:1345322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907186 Snx31 sorting nexin 31 gene DOID:0111590 Cohen syndrome ISO RGD:1603261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8907186 Snx31 sorting nexin 31 gene DOID:630 genetic disease ISO RGD:1603261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907210 Repin1 replication initiator 1 gene DOID:2843 long QT syndrome ISO RGD:1347617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 8907210 Repin1 replication initiator 1 gene DOID:630 genetic disease ISO RGD:1347617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907232 Arid5b AT-rich interaction domain 5B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8907232 Arid5b AT-rich interaction domain 5B gene DOID:12361 Graves' disease ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 8907232 Arid5b AT-rich interaction domain 5B gene DOID:630 genetic disease ISO RGD:1323345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907232 Arid5b AT-rich interaction domain 5B gene DOID:7148 rheumatoid arthritis ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963|PMID:23143596 8907232 Arid5b AT-rich interaction domain 5B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24712521 8907232 Arid5b AT-rich interaction domain 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1323345 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8907232 Arid5b AT-rich interaction domain 5B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1323345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19684603|PMID:19684604 8907252 Dynlt5 dynein light chain Tctex-type family member 5 gene DOID:1059 intellectual disability ISO RGD:1603544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8907252 Dynlt5 dynein light chain Tctex-type family member 5 gene DOID:630 genetic disease ISO RGD:1603544 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907260 Mak male germ cell associated kinase gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:733464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 8907260 Mak male germ cell associated kinase gene DOID:0110380 retinitis pigmentosa 62 ISO RGD:733464 D RGD:7240710 20180130 OMIM 8907260 Mak male germ cell associated kinase gene DOID:0110380 retinitis pigmentosa 62 ISO RGD:733464 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 62 PMID:16199547|PMID:17576681|PMID:21148103|PMID:21825139|PMID:21835304|PMID:24938718|PMID:25385675|PMID:25741868|PMID:28492532|PMID:29781741|PMID:31456290|PMID:31690835|PMID:9536098 8907260 Mak male germ cell associated kinase gene DOID:10584 retinitis pigmentosa ISO RGD:733464 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:21148103|PMID:21825139|PMID:21835304|PMID:24938718|PMID:25324289|PMID:25385675|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29103961|PMID:29781741|PMID:30718709|PMID:31456290|PMID:33576794 8907260 Mak male germ cell associated kinase gene DOID:1909 melanoma ISO RGD:733464 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8907260 Mak male germ cell associated kinase gene DOID:630 genetic disease ISO RGD:733464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8907260 Mak male germ cell associated kinase gene DOID:8501 fundus dystrophy ISO RGD:733464 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:21148103|PMID:21825139|PMID:24938718|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29103961|PMID:29781741|PMID:32531858 8907285 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 8907285 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8907285 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:0111492 combined oxidative phosphorylation deficiency 32 ISO RGD:1344240 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 PMID:25741868|PMID:28492532|PMID:28777931|PMID:35326425 8907285 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:1826 epilepsy ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8907285 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8907285 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:3652 Leigh disease ISO RGD:1344240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28777931 8907285 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:630 genetic disease ISO RGD:1344240 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8907285 Eme2 essential meiotic structure-specific endonuclease subunit 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1344240 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 8907308 Gzma granzyme A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348122 D RGD:9068941 20200609 RGD PMID:20047264|REF_RGD_ID:5135520 8907308 Gzma granzyme A gene DOID:630 genetic disease ISO RGD:1348122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907308 Gzma granzyme A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8907308 Gzma granzyme A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8907317 Daglb diacylglycerol lipase beta gene DOID:630 genetic disease ISO RGD:1604501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907336 Wwp2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8907336 Wwp2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:0112288 spondyloepiphyseal dysplasia Nishimura type ISO RGD:1320797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, nishimura type PMID:30804514 8907336 Wwp2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1320797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907336 Wwp2 WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1320797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 8907387 Pinx1 PIN2 (TERF1) interacting telomerase inhibitor 1 gene DOID:630 genetic disease ISO RGD:1606271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907387 Pinx1 PIN2 (TERF1) interacting telomerase inhibitor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1606271 D RGD:9068941 20220602 RGD associated with Chronic Hepatitis B; DNA:SNP::rs1469557(human) PMID:27221889|REF_RGD_ID:152977752 8907387 Pinx1 PIN2 (TERF1) interacting telomerase inhibitor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8907412 Mtfr2 mitochondrial fission regulator 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1344625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 8907412 Mtfr2 mitochondrial fission regulator 2 gene DOID:630 genetic disease ISO RGD:1344625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907412 Mtfr2 mitochondrial fission regulator 2 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1344625 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8907434 Setbp1 SET binding protein 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23832011|PMID:26457647 8907434 Setbp1 SET binding protein 1 gene DOID:0060058 lymphoma ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma 8907434 Setbp1 SET binding protein 1 gene DOID:0060356 Vici syndrome ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8907434 Setbp1 SET binding protein 1 gene DOID:0060597 atypical chronic myeloid leukemia ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23222956 8907434 Setbp1 SET binding protein 1 gene DOID:0070059 autosomal dominant intellectual developmental disorder 29 ISO RGD:1314725 D RGD:7240710 20180130 OMIM 8907434 Setbp1 SET binding protein 1 gene DOID:0070059 autosomal dominant intellectual developmental disorder 29 ISO RGD:1314725 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 29 | ClinVar Annotator: match by term: SETBP1-Related Disorder PMID:16199547|PMID:18414213|PMID:20436468|PMID:21037274|PMID:23222956|PMID:25028416|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:25852444|PMID:26350204|PMID:26467025|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31332282|PMID:31680123|PMID:32005694|PMID:32460883|PMID:33391157|PMID:33867525|PMID:33907317|PMID:34490615|PMID:34782754 8907434 Setbp1 SET binding protein 1 gene DOID:0070509 Schinzel Giedion syndrome ISO RGD:1314725 D RGD:7240710 20180130 OMIM 8907434 Setbp1 SET binding protein 1 gene DOID:0070509 Schinzel Giedion syndrome ISO RGD:1314725 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SETBP1-related condition | ClinVar Annotator: match by term: Schinzel-Giedion syndrome PMID:18398855|PMID:18414213|PMID:20436468|PMID:21037274|PMID:21371013|PMID:23222956|PMID:24033266|PMID:25028416|PMID:25082129|PMID:25217958|PMID:25363760|PMID:25533962|PMID:25663181|PMID:25741868|PMID:25852444|PMID:26350204|PMID:26467025|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31332282|PMID:31680123|PMID:32005694|PMID:32445275|PMID:32460883|PMID:33391157|PMID:33907317|PMID:34490615|PMID:34782754|PMID:36147799 8907434 Setbp1 SET binding protein 1 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1314725 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:18398855|PMID:18414213|PMID:20436468|PMID:21371013|PMID:23222956|PMID:25082129|PMID:25741868|PMID:28492532 8907434 Setbp1 SET binding protein 1 gene DOID:0110823 hereditary spastic paraplegia 8 ISO RGD:1314725 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868|PMID:28492532 8907434 Setbp1 SET binding protein 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:18414213|PMID:20436468|PMID:25028416|PMID:25741868|PMID:28346496|PMID:31680123|PMID:34782754 8907434 Setbp1 SET binding protein 1 gene DOID:10534 stomach cancer ISO RGD:69092 D RGD:9068941 20220311 RGD PMID:27006499|REF_RGD_ID:11354809 8907434 Setbp1 SET binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8907434 Setbp1 SET binding protein 1 gene DOID:1826 epilepsy ISO RGD:1314725 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8907434 Setbp1 SET binding protein 1 gene DOID:1882 atrial heart septal defect ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 8907434 Setbp1 SET binding protein 1 gene DOID:1909 melanoma ISO RGD:1314725 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8907434 Setbp1 SET binding protein 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1314725 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:16199547|PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532 8907434 Setbp1 SET binding protein 1 gene DOID:630 genetic disease ISO RGD:1314725 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20436468|PMID:21037274|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25533962|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31332282|PMID:32005694|PMID:32460883|PMID:33391157 8907434 Setbp1 SET binding protein 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1314725 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:18398855|PMID:18414213|PMID:20436468|PMID:21371013|PMID:23222956|PMID:25082129|PMID:25741868|PMID:28492532 8907434 Setbp1 SET binding protein 1 gene DOID:8692 myeloid leukemia ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23832012 8907434 Setbp1 SET binding protein 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8907434 Setbp1 SET binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8907434 Setbp1 SET binding protein 1 gene DOID:9004657 Weight Gain ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8907434 Setbp1 SET binding protein 1 gene DOID:9005466 Language Development Disorders ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25217958 8907434 Setbp1 SET binding protein 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1314725 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532|PMID:32345733 8907434 Setbp1 SET binding protein 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436468 8907434 Setbp1 SET binding protein 1 gene DOID:9008582 Developmental Disease ISO RGD:1314725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8907434 Setbp1 SET binding protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20436468 8907434 Setbp1 SET binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1314725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 8907454 Actr10 actin related protein 10 gene DOID:630 genetic disease ISO RGD:1315176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907492 Tmem43 transmembrane protein 43 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 8907492 Tmem43 transmembrane protein 43 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23400628|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26467025|PMID:26513349|PMID:27153395|PMID:28471438|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137 8907492 Tmem43 transmembrane protein 43 gene DOID:0050700 cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27153395|PMID:27532257|PMID:28166811|PMID:28301460|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29247119|PMID:29980933|PMID:30206291|PMID:30700137|PMID:31333075|PMID:31568572|PMID:9536098 8907492 Tmem43 transmembrane protein 43 gene DOID:0050700 cardiomyopathy ISO RGD:1348900 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28087566|PMID:28166811|PMID:28301460|PMID:28341588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29311375|PMID:29476165|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:31847883|PMID:32840935|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:9536098 8907492 Tmem43 transmembrane protein 43 gene DOID:0050700 cardiomyopathy ISO RGD:1348900 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17576681|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23299917|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28008423|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29247119|PMID:29311375|PMID:29476165|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30615648|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:31760239|PMID:31847883|PMID:32840935|PMID:32880476|PMID:33087929|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:37477868|PMID:9536098 8907492 Tmem43 transmembrane protein 43 gene DOID:0060417 3p deletion syndrome ISO RGD:1348900 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8907492 Tmem43 transmembrane protein 43 gene DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 ISO RGD:1348900 D RGD:7240710 20180130 OMIM 8907492 Tmem43 transmembrane protein 43 gene DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 ISO RGD:1348900 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, AD | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, autosomal dominant PMID:18230648|PMID:18313022|PMID:18414213|PMID:20435227|PMID:21391237|PMID:21636032|PMID:23161701|PMID:23178689|PMID:23299917|PMID:23555315|PMID:23812740|PMID:23861362|PMID:24033266|PMID:25343256|PMID:25351510|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26743238|PMID:26840987|PMID:28301460|PMID:28492532|PMID:29311375|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476|PMID:33087929|PMID:34050020|PMID:37477868 8907492 Tmem43 transmembrane protein 43 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1348900 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:26214305|PMID:28492532|PMID:33552729 8907492 Tmem43 transmembrane protein 43 gene DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ISO RGD:1348900 D RGD:7240710 20180130 OMIM 8907492 Tmem43 transmembrane protein 43 gene DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ISO RGD:1348900 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 5 PMID:16199547|PMID:17576681|PMID:18230648|PMID:18313022|PMID:18414213|PMID:19467449|PMID:20010364|PMID:20435227|PMID:21214875|PMID:21391237|PMID:21636032|PMID:22458570|PMID:22725725|PMID:23161701|PMID:23178689|PMID:23299917|PMID:23555315|PMID:23671136|PMID:23810883|PMID:23812740|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24598986|PMID:25214167|PMID:25343256|PMID:25351510|PMID:25676813|PMID:25741868|PMID:25820315|PMID:26214305|PMID:26467025|PMID:26513349|PMID:26743238|PMID:26840987|PMID:27005929|PMID:27153395|PMID:27532257|PMID:28008423|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28491673|PMID:28492532|PMID:28750076|PMID:29040414|PMID:29192238|PMID:29247119|PMID:29311375|PMID:29447731|PMID:29476165|PMID:29980933|PMID:30206291|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30700137|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31376648|PMID:31568572|PMID:31760239|PMID:31847883|PMID:32840935|PMID:32880476|PMID:33087929|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33968641|PMID:34050020|PMID:37477868|PMID:9536098 8907492 Tmem43 transmembrane protein 43 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348900 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:26214305|PMID:28492532|PMID:33552729 8907492 Tmem43 transmembrane protein 43 gene DOID:0110844 xeroderma pigmentosum group C ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 8907492 Tmem43 transmembrane protein 43 gene DOID:0112373 autosomal dominant auditory neuropathy 3 ISO RGD:1348900 D RGD:7240710 20220427 OMIM 8907492 Tmem43 transmembrane protein 43 gene DOID:0112373 autosomal dominant auditory neuropathy 3 ISO RGD:1348900 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 PMID:18230648|PMID:20435227|PMID:21391237|PMID:21636032|PMID:23161701|PMID:23178689|PMID:23299917|PMID:23555315|PMID:23812740|PMID:23861362|PMID:24033266|PMID:25343256|PMID:25351510|PMID:25741868|PMID:25820315|PMID:26467025|PMID:26743238|PMID:26840987|PMID:28301460|PMID:28492532|PMID:29311375|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476|PMID:33087929|PMID:34050020|PMID:37477868 8907492 Tmem43 transmembrane protein 43 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348900 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 8907492 Tmem43 transmembrane protein 43 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18313022|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23671136|PMID:23810883|PMID:23812740|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26513349|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137 8907492 Tmem43 transmembrane protein 43 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18313022|PMID:19467449|PMID:20010364|PMID:21214875|PMID:22458570|PMID:22725725|PMID:23671136|PMID:23810883|PMID:23812740|PMID:24125834|PMID:24598986|PMID:25343256|PMID:25741868|PMID:26513349|PMID:28491673|PMID:28492532|PMID:29040414|PMID:29980933|PMID:30700137 8907492 Tmem43 transmembrane protein 43 gene DOID:2843 long QT syndrome ISO RGD:1348900 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25343256|PMID:25741868|PMID:28492532 8907492 Tmem43 transmembrane protein 43 gene DOID:630 genetic disease ISO RGD:1348900 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8907492 Tmem43 transmembrane protein 43 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1348900 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:37477868 8907492 Tmem43 transmembrane protein 43 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348900 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8907492 Tmem43 transmembrane protein 43 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1348900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8907508 Znf79 zinc finger protein 79 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8907508 Znf79 zinc finger protein 79 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1350135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8907508 Znf79 zinc finger protein 79 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8907508 Znf79 zinc finger protein 79 gene DOID:630 genetic disease ISO RGD:1350135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907517 Cr2 complement C3d receptor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1320753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8907517 Cr2 complement C3d receptor 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1320753 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868 8907517 Cr2 complement C3d receptor 2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1320753 D RGD:7240710 20240308 OMIM 8907517 Cr2 complement C3d receptor 2 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1320753 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:16199547|PMID:17576681|PMID:22035880|PMID:24033266|PMID:25741868|PMID:26193622|PMID:26325596|PMID:28492532|PMID:28499783|PMID:29148534|PMID:29867916|PMID:30075290|PMID:33046446|PMID:34426522|PMID:9536098 8907517 Cr2 complement C3d receptor 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1320753 D RGD:9068941 20240229 CTD CTD Direct Evidence: marker/mechanism 8907517 Cr2 complement C3d receptor 2 gene DOID:12849 autistic disorder ISO RGD:1320753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8907517 Cr2 complement C3d receptor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1320753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8907517 Cr2 complement C3d receptor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320753 D RGD:9068941 20210709 RGD protein:decreased expression:B cell PMID:8442917|REF_RGD_ID:127338249 8907517 Cr2 complement C3d receptor 2 gene DOID:5434 scrapie ISO RGD:1320754 D RGD:9068941 20210702 RGD PMID:29202042|REF_RGD_ID:127285805 8907517 Cr2 complement C3d receptor 2 gene DOID:630 genetic disease ISO RGD:1320753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8907517 Cr2 complement C3d receptor 2 gene DOID:8469 influenza exacerbates ISO RGD:1320754 D RGD:9068941 20210709 RGD PMID:19388171|REF_RGD_ID:127338248 8907517 Cr2 complement C3d receptor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1310065 D RGD:9068941 20210709 RGD protein:increased expression:cerebrospinal fluid PMID:26502875|REF_RGD_ID:11343913 8907517 Cr2 complement C3d receptor 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1320753 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8907517 Cr2 complement C3d receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1320753 D RGD:7240710 20240308 OMIM 8907517 Cr2 complement C3d receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1320753 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: CR2-related condition | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to, 9 PMID:24033266|PMID:25741868|PMID:26325596|PMID:28492532|PMID:28499783 8907517 Cr2 complement C3d receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8907517 Cr2 complement C3d receptor 2 gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1320753 D RGD:9068941 20210709 RGD DNA:SNP:5'UTR:24T>C (rs3813946)(human) PMID:23612877|REF_RGD_ID:127338247 8907554 Ackr4 atypical chemokine receptor 4 gene DOID:12712 nephronophthisis ISO RGD:1602221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 8907554 Ackr4 atypical chemokine receptor 4 gene DOID:630 genetic disease ISO RGD:1602221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907554 Ackr4 atypical chemokine receptor 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:1602221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8907554 Ackr4 atypical chemokine receptor 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8907554 Ackr4 atypical chemokine receptor 4 gene DOID:9270 alkaptonuria ISO RGD:1602221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8907572 Cpz carboxypeptidase Z gene DOID:630 genetic disease ISO RGD:731300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907572 Cpz carboxypeptidase Z gene DOID:9007661 Dwarfism ISO RGD:731300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8907599 Ski SKI proto-oncogene gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8907599 Ski SKI proto-oncogene gene DOID:0060041 autism spectrum disorder ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532 8907599 Ski SKI proto-oncogene gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8907599 Ski SKI proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:17576681|PMID:19112531|PMID:19114989|PMID:20635359|PMID:23023332|PMID:23103230|PMID:23892090|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29168297|PMID:33436942|PMID:9536098 8907599 Ski SKI proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:20635359|PMID:21699693|PMID:23023332|PMID:23103230|PMID:23892090|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29168297|PMID:29543232|PMID:31322791|PMID:33436942|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 8907599 Ski SKI proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 8907599 Ski SKI proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31754721|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 8907599 Ski SKI proto-oncogene gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1342955 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28252636|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31754721|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 8907599 Ski SKI proto-oncogene gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1342955 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE PMID:25741868|PMID:28492532 8907599 Ski SKI proto-oncogene gene DOID:0080074 neural tube defect ISO RGD:1342955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9284043 8907599 Ski SKI proto-oncogene gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8907599 Ski SKI proto-oncogene gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8907599 Ski SKI proto-oncogene gene DOID:0110994 Joubert syndrome 25 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8907599 Ski SKI proto-oncogene gene DOID:0111934 immunodeficiency 38 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8907599 Ski SKI proto-oncogene gene DOID:0111935 immunodeficiency 16 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8907599 Ski SKI proto-oncogene gene DOID:1059 intellectual disability ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8907599 Ski SKI proto-oncogene gene DOID:14004 thoracic aortic aneurysm ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 8907599 Ski SKI proto-oncogene gene DOID:14004 thoracic aortic aneurysm ISO RGD:1342955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15979919|PMID:16327884|PMID:19112531|PMID:21699693|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29543232|PMID:31322791|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946 8907599 Ski SKI proto-oncogene gene DOID:14004 thoracic aortic aneurysm ISO RGD:1342955 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15979919|PMID:16327884|PMID:19112531|PMID:21699693|PMID:24033266|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29543232|PMID:31322791|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946 8907599 Ski SKI proto-oncogene gene DOID:14004 thoracic aortic aneurysm ISO RGD:1342955 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15979919|PMID:16327884|PMID:19112531|PMID:21699693|PMID:24033266|PMID:25741868|PMID:28252636|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:29543232|PMID:31322791|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946 8907599 Ski SKI proto-oncogene gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8907599 Ski SKI proto-oncogene gene DOID:3627 aortic aneurysm ISO RGD:1342955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23023332 8907599 Ski SKI proto-oncogene gene DOID:630 genetic disease ISO RGD:1342955 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19114989|PMID:23023332|PMID:23103230|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31754721|PMID:31980905|PMID:33416497|PMID:33436942 8907599 Ski SKI proto-oncogene gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection PMID:28492532 8907599 Ski SKI proto-oncogene gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342955 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23023332|PMID:25363760|PMID:25741868|PMID:33416497 8907599 Ski SKI proto-oncogene gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1342955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9284043 8907599 Ski SKI proto-oncogene gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1342955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868|PMID:28492532 8907599 Ski SKI proto-oncogene gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1342955 D RGD:7240710 20180130 OMIM 8907599 Ski SKI proto-oncogene gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1342955 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Marfanoid craniosynostosis syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:15979919|PMID:16199547|PMID:16327884|PMID:17576681|PMID:19112531|PMID:19114989|PMID:21699693|PMID:23023332|PMID:23103230|PMID:24033266|PMID:24357594|PMID:24736733|PMID:25326635|PMID:25741868|PMID:27146836|PMID:28252636|PMID:28492532|PMID:28667723|PMID:28750028|PMID:28757364|PMID:28857439|PMID:29168297|PMID:29543232|PMID:31322791|PMID:31754721|PMID:31980905|PMID:32123317|PMID:33416497|PMID:33436942|PMID:33824467|PMID:7977351|PMID:8449506|PMID:8981946|PMID:9536098 8907599 Ski SKI proto-oncogene gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1342955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8907599 Ski SKI proto-oncogene gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1342955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9284043 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:732061 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868|PMID:28492532 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:10283 prostate cancer ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:16648554|REF_RGD_ID:2293560 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:10534 stomach cancer ISO RGD:732061 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:36988593 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:11054 urinary bladder cancer ISO RGD:621120 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:16896691|REF_RGD_ID:2289144 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:amplification PMID:11971182|REF_RGD_ID:2299056 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:11132 prostatic hypertrophy ISO RGD:621120 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17962342|REF_RGD_ID:2289135 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:1612 breast cancer disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:16440198|REF_RGD_ID:2293576 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:1793 pancreatic cancer ISO RGD:621120 D RGD:9068941 20200609 RGD protein:increased expression:islet of Langerhans, nucleus (rat) PMID:22477723|REF_RGD_ID:13452386 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:1793 pancreatic cancer ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:islet of Langerhans (human) PMID:22761470|REF_RGD_ID:13452384 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732062 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (mouse) PMID:11159909|REF_RGD_ID:13452385 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732062 D RGD:9068941 20200609 RGD PMID:24531709|REF_RGD_ID:13452387 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:1799 islet cell tumor ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, islet of Langerhans (human) PMID:22761470|REF_RGD_ID:13452384 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:1909 melanoma ISO RGD:732061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:11756559|PMID:15880589|PMID:21801156|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:2154 nephroblastoma disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:15797629|REF_RGD_ID:2289153 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:2394 ovarian cancer ISO RGD:732061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:15161057|REF_RGD_ID:2293580 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:2696 Leydig cell tumor ISO RGD:732062 D RGD:9068941 20200609 RGD associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes PMID:18310289|REF_RGD_ID:2293582 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:305 carcinoma ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:3068 glioblastoma ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:amplication PMID:23796897|REF_RGD_ID:13702089 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:3070 high grade glioma ISO RGD:732062 D RGD:9068941 20200609 RGD PMID:21844184|REF_RGD_ID:13702091 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:3070 high grade glioma disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:23761023|REF_RGD_ID:13702090 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:3369 Ewing sarcoma ISO RGD:732061 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:24755471|PMID:25318351|PMID:25741868|PMID:26252490|PMID:26467025|PMID:28166811|PMID:28492532|PMID:30093976|PMID:30851086 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:3382 liposarcoma ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20601955|PMID:23569312 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:3459 breast carcinoma ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:amplification PMID:9916925|REF_RGD_ID:2293583 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, islet of Langerhans (human) PMID:29735403|REF_RGD_ID:13781899 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9751261|REF_RGD_ID:13464277 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:24959380|REF_RGD_ID:13464275 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:24496383|REF_RGD_ID:13464276 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:3910 lung adenocarcinoma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11756559|PMID:15880589|PMID:21801156|PMID:22804906|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:732061 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:22509328|REF_RGD_ID:13792559 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:4450 renal cell carcinoma ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15991006|REF_RGD_ID:2293579 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:621120 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:7240710 20190410 OMIM 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19690981|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19690981|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29625052|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:35264596|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19690981|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29625052|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30426508|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34130653|PMID:34285288|PMID:35264596|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19690981|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28640387|PMID:28726808|PMID:29625052|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30374176|PMID:30426508|PMID:30851086|PMID:31159747|PMID:31570899|PMID:31784493|PMID:32645390|PMID:32980694|PMID:34130653|PMID:34285288|PMID:35264596|PMID:36095024|PMID:36243179|PMID:36816543|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:6846 familial melanoma ISO RGD:732061 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19690981|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28640387|PMID:28726808|PMID:29625052|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30374176|PMID:30426508|PMID:30851086|PMID:31159747|PMID:31570899|PMID:31784493|PMID:32645390|PMID:32980694|PMID:34130653|PMID:34285288|PMID:34326862|PMID:35264596|PMID:36095024|PMID:36243179|PMID:36816543|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:7698 non-functioning pancreatic endocrine tumor ISO RGD:732061 D RGD:9068941 20200609 RGD associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) PMID:29149451|REF_RGD_ID:13781946 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:8923 skin melanoma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11756559|PMID:15880589|PMID:21801156|PMID:22804906|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:increased expression:cervix epithelium PMID:18301453|REF_RGD_ID:2293574 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21628965 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:11358847|REF_RGD_ID:2296041 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621120 D RGD:9068941 20200609 RGD PMID:16534847|REF_RGD_ID:2289284 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9002170 Experimental Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:17692085|REF_RGD_ID:2299054 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9002777 Brain Stem Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098593 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:amplification PMID:11311493|REF_RGD_ID:2299057 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:increased expression:cervix epithelium PMID:18301453|REF_RGD_ID:2293574 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621120 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:14522882|REF_RGD_ID:2293581 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:25221644 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:732062 D RGD:9068941 20200609 RGD PMID:16413469|REF_RGD_ID:2293577 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:732061 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33727089 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25318351|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28726808|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30851086|PMID:31159747|PMID:31570899|PMID:32645390|PMID:34285288|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28640387|PMID:28726808|PMID:29625052|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30374176|PMID:30426508|PMID:30851086|PMID:31118792|PMID:31159747|PMID:31570899|PMID:31784493|PMID:32645390|PMID:32980694|PMID:34130653|PMID:34285288|PMID:35264596|PMID:36095024|PMID:36243179|PMID:36816543|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732061 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398427|PMID:11756559|PMID:11828258|PMID:14621993|PMID:15880589|PMID:16201750|PMID:17576681|PMID:19139070|PMID:19888216|PMID:20668451|PMID:21520333|PMID:21801156|PMID:22804906|PMID:22932448|PMID:23384855|PMID:23546221|PMID:23718828|PMID:24162924|PMID:24256466|PMID:24321989|PMID:24728327|PMID:24755471|PMID:25157968|PMID:25186627|PMID:25305755|PMID:25318351|PMID:25344691|PMID:25416956|PMID:25741868|PMID:25980754|PMID:26252490|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26619011|PMID:26800492|PMID:26976419|PMID:27640074|PMID:27978560|PMID:27997549|PMID:28060055|PMID:28135145|PMID:28166811|PMID:28380455|PMID:28492532|PMID:28640387|PMID:28726808|PMID:29625052|PMID:29641532|PMID:29774366|PMID:29917049|PMID:30093976|PMID:30374176|PMID:30426508|PMID:30851086|PMID:31118792|PMID:31159747|PMID:31570899|PMID:31784493|PMID:32645390|PMID:32980694|PMID:34130653|PMID:34285288|PMID:34326862|PMID:35264596|PMID:36095024|PMID:36243179|PMID:36816543|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9311594|PMID:9425228|PMID:9536098 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9007480 Hyperoxia ISO RGD:621120 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18082050|REF_RGD_ID:2289663 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9007502 Brain Neoplasms ISO RGD:732061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:732061 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:14648178|REF_RGD_ID:2299055 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732061 D RGD:9068941 20200609 RGD PMID:18678431|REF_RGD_ID:2314611 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732061 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS4-40G>A (human) PMID:19695727|REF_RGD_ID:2314610 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9538 multiple myeloma ISO RGD:732061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma PMID:11756559|PMID:15880589|PMID:21801156|PMID:22804906|PMID:23384855|PMID:23546221|PMID:24256466|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29774366|PMID:5377176|PMID:7652577|PMID:8528263|PMID:8968104|PMID:9228064|PMID:9425228 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732062 D RGD:9068941 20200609 RGD PMID:10319860|REF_RGD_ID:2314613 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:732062 D RGD:9068941 20220825 MouseDO OMIM:222100 8907619 Cdk4 cyclin dependent kinase 4 gene DOID:9970 obesity susceptibility ISO RGD:732061 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:intron:IVS4-40G>A (human) PMID:19634152|REF_RGD_ID:2314609 8907634 Tmem184c transmembrane protein 184C gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1349593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 8907634 Tmem184c transmembrane protein 184C gene DOID:630 genetic disease ISO RGD:1349593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907634 Tmem184c transmembrane protein 184C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868 8907648 Dynlt3 dynein light chain Tctex-type 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8907648 Dynlt3 dynein light chain Tctex-type 3 gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 8907648 Dynlt3 dynein light chain Tctex-type 3 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 8907648 Dynlt3 dynein light chain Tctex-type 3 gene DOID:12849 autistic disorder ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8907648 Dynlt3 dynein light chain Tctex-type 3 gene DOID:630 genetic disease ISO RGD:1350586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907648 Dynlt3 dynein light chain Tctex-type 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8907648 Dynlt3 dynein light chain Tctex-type 3 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8907648 Dynlt3 dynein light chain Tctex-type 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350586 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8907657 Tmem72 transmembrane protein 72 gene DOID:630 genetic disease ISO RGD:1354072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907676 Spopl speckle type BTB/POZ protein like gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:1605812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 8907676 Spopl speckle type BTB/POZ protein like gene DOID:630 genetic disease ISO RGD:1605812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907712 Gmnc geminin coiled-coil domain containing gene DOID:5419 schizophrenia ISO RGD:5455041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8907712 Gmnc geminin coiled-coil domain containing gene DOID:630 genetic disease ISO RGD:5455041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907721 Tead1 TEA domain transcription factor 1 gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1351522 D RGD:7240710 20180130 OMIM 8907721 Tead1 TEA domain transcription factor 1 gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1351522 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration PMID:15016762|PMID:15359244|PMID:17689488|PMID:25741868|PMID:28492532|PMID:33864784 8907721 Tead1 TEA domain transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1351522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8907721 Tead1 TEA domain transcription factor 1 gene DOID:630 genetic disease ISO RGD:1351522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8907721 Tead1 TEA domain transcription factor 1 gene DOID:9006944 Alcoholic Fatty Liver ameliorates ISO RGD:1557345 D RGD:9068941 20240229 RGD PMID:33710653|REF_RGD_ID:401976495 8907752 Phaf1 phagosome assembly factor 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8907752 Phaf1 phagosome assembly factor 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:1604592 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8907773 Znf583 zinc finger protein 583 gene DOID:630 genetic disease ISO RGD:1350167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907784 Fbxl16 F-box and leucine rich repeat protein 16 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8907784 Fbxl16 F-box and leucine rich repeat protein 16 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319294 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8907784 Fbxl16 F-box and leucine rich repeat protein 16 gene DOID:1826 epilepsy ISO RGD:1319294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8907784 Fbxl16 F-box and leucine rich repeat protein 16 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8907784 Fbxl16 F-box and leucine rich repeat protein 16 gene DOID:630 genetic disease ISO RGD:1319294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907794 Mtcl2 microtubule crosslinking factor 2 gene DOID:2234 focal epilepsy ISO RGD:1352015 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8907794 Mtcl2 microtubule crosslinking factor 2 gene DOID:630 genetic disease ISO RGD:1352015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317562 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:1059 intellectual disability ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:12177 common variable immunodeficiency ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:2729 dyskeratosis congenita ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:305 carcinoma ISO RGD:1317562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:630 genetic disease ISO RGD:1317562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:9000039 Spinal Cord Injuries ISO RGD:1308029 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:gastrocnemius PMID:23238062|REF_RGD_ID:10395360 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:9000058 Keloid ISO RGD:1317562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1317562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:9003915 Faundes-Banka Syndrome ISO RGD:1317562 D RGD:7240710 20210616 OMIM 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:9003915 Faundes-Banka Syndrome ISO RGD:1317562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Faundes-Banka syndrome PMID:25741868|PMID:33547280 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8907832 Eif5a eukaryotic translation initiation factor 5A gene DOID:9256 colorectal cancer disease_progression ISO RGD:1317562 D RGD:9068941 20220224 RGD PMID:23322277|REF_RGD_ID:151356994 8907847 Taf9b TATA-box binding protein associated factor 9b gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8907847 Taf9b TATA-box binding protein associated factor 9b gene DOID:1059 intellectual disability ISO RGD:1351331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8907847 Taf9b TATA-box binding protein associated factor 9b gene DOID:12849 autistic disorder ISO RGD:1351331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8907847 Taf9b TATA-box binding protein associated factor 9b gene DOID:630 genetic disease ISO RGD:1351331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907865 Wdr47 WD repeat domain 47 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1343602 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8907865 Wdr47 WD repeat domain 47 gene DOID:12849 autistic disorder ISO RGD:1343602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8907865 Wdr47 WD repeat domain 47 gene DOID:630 genetic disease ISO RGD:1343602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907890 Slc25a44 solute carrier family 25 member 44 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8907890 Slc25a44 solute carrier family 25 member 44 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8907890 Slc25a44 solute carrier family 25 member 44 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8907890 Slc25a44 solute carrier family 25 member 44 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605709 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8907890 Slc25a44 solute carrier family 25 member 44 gene DOID:1540 parathyroid carcinoma ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8907890 Slc25a44 solute carrier family 25 member 44 gene DOID:5812 MHC class II deficiency ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8907890 Slc25a44 solute carrier family 25 member 44 gene DOID:630 genetic disease ISO RGD:1605709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907890 Slc25a44 solute carrier family 25 member 44 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8907898 Cdkl1 cyclin dependent kinase like 1 gene DOID:630 genetic disease ISO RGD:1312899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907916 Erc1 ELKS/RAB6-interacting/CAST family member 1 gene DOID:630 genetic disease ISO RGD:1604628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907916 Erc1 ELKS/RAB6-interacting/CAST family member 1 gene DOID:9000271 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation ISO RGD:1604628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation PMID:25741868 8907916 Erc1 ELKS/RAB6-interacting/CAST family member 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8907958 Wdr59 WD repeat domain 59 gene DOID:2565 macular corneal dystrophy ISO RGD:1605950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 8907958 Wdr59 WD repeat domain 59 gene DOID:607 paraplegia ISO RGD:1605950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8907958 Wdr59 WD repeat domain 59 gene DOID:630 genetic disease ISO RGD:1605950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8907958 Wdr59 WD repeat domain 59 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8908004 Plxnc1 plexin C1 gene DOID:0111125 nephronophthisis 18 ISO RGD:1316607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 18 PMID:28492532 8908004 Plxnc1 plexin C1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1316607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8908004 Plxnc1 plexin C1 gene DOID:289 endometriosis ISO RGD:1316607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8908004 Plxnc1 plexin C1 gene DOID:630 genetic disease ISO RGD:1316607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908039 Plekha2 pleckstrin homology domain containing A2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1352018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8908039 Plekha2 pleckstrin homology domain containing A2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1352018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8908039 Plekha2 pleckstrin homology domain containing A2 gene DOID:607 paraplegia ISO RGD:1352018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8908039 Plekha2 pleckstrin homology domain containing A2 gene DOID:630 genetic disease ISO RGD:1352018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908066 Vezt vezatin, adherens junctions transmembrane protein gene DOID:630 genetic disease ISO RGD:1602106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908082 Adora2a adenosine A2a receptor gene DOID:0050700 cardiomyopathy ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20363887 8908082 Adora2a adenosine A2a receptor gene DOID:0060001 withdrawal disorder ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14756803|PMID:16226742|PMID:16470403 8908082 Adora2a adenosine A2a receptor gene DOID:0060500 drug allergy ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 8908082 Adora2a adenosine A2a receptor gene DOID:10763 hypertension no_association ISO RGD:730999 D RGD:9068941 20200609 RGD PMID:15257174|REF_RGD_ID:1625367 8908082 Adora2a adenosine A2a receptor gene DOID:11396 pulmonary edema ISO RGD:10092 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:19909990|REF_RGD_ID:4890361 8908082 Adora2a adenosine A2a receptor gene DOID:11830 myopia ISO RGD:10092 D RGD:9068941 20220825 MouseDO OMIM:160700 | OMIM:255500 | OMIM:300613 | OMIM:310460 | OMIM:603221 | OMIM:608367 | OMIM:608474 | OMIM:608908 | OMIM:609256 | OMIM:609257 | OMIM:609258 | OMIM:609259 | OMIM:609994 | OMIM:609995 | OMIM:610320 | OMIM:612554 | OMIM:612717 | OMIM:613959 | OMIM:613969 | OMIM:614166 | OMIM:614167 | OMIM:615420 | OMIM:615431 | OMIM:615946 8908082 Adora2a adenosine A2a receptor gene DOID:14557 primary pulmonary hypertension ISO RGD:10092 D RGD:9068941 20220825 MouseDO OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 8908082 Adora2a adenosine A2a receptor gene DOID:1596 depressive disorder ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26860412 8908082 Adora2a adenosine A2a receptor gene DOID:1826 epilepsy ISO RGD:730999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8908082 Adora2a adenosine A2a receptor gene DOID:2030 anxiety disorder ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12825092|PMID:16118787|PMID:18305461|PMID:20532872 8908082 Adora2a adenosine A2a receptor gene DOID:2799 bronchiolitis obliterans ISO RGD:10092 D RGD:9068941 20200609 RGD PMID:19766783|REF_RGD_ID:4890362 8908082 Adora2a adenosine A2a receptor gene DOID:2841 asthma ISO RGD:10092 D RGD:9068941 20200609 RGD PMID:16339780|PMID:17293374|REF_RGD_ID:4890380|REF_RGD_ID:4890385 8908082 Adora2a adenosine A2a receptor gene DOID:2841 asthma ISO RGD:10092 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta PMID:18310516|REF_RGD_ID:4890366 8908082 Adora2a adenosine A2a receptor gene DOID:2841 asthma ISO RGD:730999 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:19019667|REF_RGD_ID:4890386 8908082 Adora2a adenosine A2a receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10092 D RGD:9068941 20200609 RGD PMID:16339780|REF_RGD_ID:4890385 8908082 Adora2a adenosine A2a receptor gene DOID:480 movement disease ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26526685 8908082 Adora2a adenosine A2a receptor gene DOID:5419 schizophrenia ISO RGD:730999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8908082 Adora2a adenosine A2a receptor gene DOID:552 pneumonia ISO RGD:10092 D RGD:9068941 20200609 RGD PMID:17601796|REF_RGD_ID:4890376 8908082 Adora2a adenosine A2a receptor gene DOID:552 pneumonia ISO RGD:10092 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell PMID:20798237|REF_RGD_ID:4890358 8908082 Adora2a adenosine A2a receptor gene DOID:552 pneumonia ISO RGD:10092 D RGD:9068941 20200609 RGD associated with Lung Injury PMID:18703794|REF_RGD_ID:4890364 8908082 Adora2a adenosine A2a receptor gene DOID:594 panic disorder ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12825092 8908082 Adora2a adenosine A2a receptor gene DOID:630 genetic disease ISO RGD:730999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908082 Adora2a adenosine A2a receptor gene DOID:670 amphetamine abuse ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20799992 8908082 Adora2a adenosine A2a receptor gene DOID:7148 rheumatoid arthritis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8908082 Adora2a adenosine A2a receptor gene DOID:850 lung disease ISO RGD:10092 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:17617618|REF_RGD_ID:4890370 8908082 Adora2a adenosine A2a receptor gene DOID:850 lung disease ISO RGD:2049 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury PMID:19487932|REF_RGD_ID:4890363 8908082 Adora2a adenosine A2a receptor gene DOID:850 lung disease ISO RGD:2049 D RGD:9068941 20200609 RGD associated with Shock PMID:16484904|REF_RGD_ID:4890383 8908082 Adora2a adenosine A2a receptor gene DOID:8646 substance-induced psychosis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20799992 8908082 Adora2a adenosine A2a receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2049 D RGD:9068941 20200609 RGD PMID:17559837|REF_RGD_ID:4890378 8908082 Adora2a adenosine A2a receptor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19019667 8908082 Adora2a adenosine A2a receptor gene DOID:9000495 Tremor ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16780890 8908082 Adora2a adenosine A2a receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16783407 8908082 Adora2a adenosine A2a receptor gene DOID:9001981 Weight Loss ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26526685 8908082 Adora2a adenosine A2a receptor gene DOID:9002362 Hyperkinesis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15187444 8908082 Adora2a adenosine A2a receptor gene DOID:9004009 Reperfusion Injury ISO RGD:2049 D RGD:9068941 20200609 RGD PMID:17937935|REF_RGD_ID:4890367 8908082 Adora2a adenosine A2a receptor gene DOID:9004009 Reperfusion Injury ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27757725 8908082 Adora2a adenosine A2a receptor gene DOID:9004484 Sepsis ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27757725 8908082 Adora2a adenosine A2a receptor gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20532872 8908082 Adora2a adenosine A2a receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2049 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:16256246|REF_RGD_ID:2313805 8908082 Adora2a adenosine A2a receptor gene DOID:9006024 Hypotension ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640|PMID:1592228|PMID:18313046 8908082 Adora2a adenosine A2a receptor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 8908082 Adora2a adenosine A2a receptor gene DOID:9007039 Ventricular Dysfunction ISO RGD:730999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15641640 8908110 Gcna germ cell nuclear acidic peptidase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8908110 Gcna germ cell nuclear acidic peptidase gene DOID:0070168 spermatogenic failure 3 ISO RGD:1346265 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:33963445|PMID:34413498 8908110 Gcna germ cell nuclear acidic peptidase gene DOID:12849 autistic disorder ISO RGD:1346265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8908110 Gcna germ cell nuclear acidic peptidase gene DOID:14227 azoospermia ISO RGD:1346265 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:35172124 8908110 Gcna germ cell nuclear acidic peptidase gene DOID:630 genetic disease ISO RGD:1346265 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908110 Gcna germ cell nuclear acidic peptidase gene DOID:9001624 X-Linked Spermatogenic Failure 4 ISO RGD:1346265 D RGD:7240710 20220427 OMIM 8908110 Gcna germ cell nuclear acidic peptidase gene DOID:9001624 X-Linked Spermatogenic Failure 4 ISO RGD:1346265 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 4 PMID:25741868|PMID:33963445|PMID:34413498|PMID:35172124 8908127 Klf14 KLF transcription factor 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8908127 Klf14 KLF transcription factor 14 gene DOID:630 genetic disease ISO RGD:1343776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908127 Klf14 KLF transcription factor 14 gene DOID:9003370 Dyslipidemias ISO RGD:1343776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29632379 8908127 Klf14 KLF transcription factor 14 gene DOID:9007692 Insulin Resistance ISO RGD:1343776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29632379 8908127 Klf14 KLF transcription factor 14 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29632379 8908140 Plxna3 plexin A3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349180 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8908140 Plxna3 plexin A3 gene DOID:0050476 Barth syndrome ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8908140 Plxna3 plexin A3 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8908140 Plxna3 plexin A3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8908140 Plxna3 plexin A3 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8908140 Plxna3 plexin A3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 8908140 Plxna3 plexin A3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349180 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8908140 Plxna3 plexin A3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8908140 Plxna3 plexin A3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8908140 Plxna3 plexin A3 gene DOID:12849 autistic disorder ISO RGD:1349180 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 8908140 Plxna3 plexin A3 gene DOID:13628 favism ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8908140 Plxna3 plexin A3 gene DOID:1921 Klinefelter syndrome ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8908140 Plxna3 plexin A3 gene DOID:1923 disorder of sexual development ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8908140 Plxna3 plexin A3 gene DOID:2729 dyskeratosis congenita ISO RGD:1349180 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8908140 Plxna3 plexin A3 gene DOID:607 paraplegia ISO RGD:1349180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8908140 Plxna3 plexin A3 gene DOID:630 genetic disease ISO RGD:1349180 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8908140 Plxna3 plexin A3 gene DOID:9002720 Splenomegaly ISO RGD:1349180 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8908140 Plxna3 plexin A3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8908140 Plxna3 plexin A3 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1349180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8908140 Plxna3 plexin A3 gene DOID:9007661 Dwarfism ISO RGD:1349180 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 8908140 Plxna3 plexin A3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1349180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21933904 8908177 Mdp1 magnesium dependent phosphatase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1601722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8908177 Mdp1 magnesium dependent phosphatase 1 gene DOID:10283 prostate cancer ISO RGD:1601722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8908177 Mdp1 magnesium dependent phosphatase 1 gene DOID:630 genetic disease ISO RGD:1601722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908177 Mdp1 magnesium dependent phosphatase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1601722 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8908177 Mdp1 magnesium dependent phosphatase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1601722 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8908191 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8908191 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:0060001 withdrawal disorder treatment ISO RGD:1621299 D RGD:9068941 20200609 RGD PMID:25871318|REF_RGD_ID:14995950 8908191 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:10908 hydrocephalus ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 8908191 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:11446 sciatic neuropathy ISO RGD:68944 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:22972512|REF_RGD_ID:15042903 8908191 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:5419 schizophrenia ISO RGD:68996 D RGD:9068941 20200609 RGD DNA:SNP: :rs4522708 (human) PMID:29308060|REF_RGD_ID:15042891 8908191 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:5419 schizophrenia ISO RGD:68996 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:28725167|REF_RGD_ID:15042892 8908191 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:630 genetic disease ISO RGD:68996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908191 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:9001736 Neurodevelopmental Disorder with Speech Impairment and with or without Seizures ISO RGD:68996 D RGD:7240710 20221123 OMIM 8908191 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:9001736 Neurodevelopmental Disorder with Speech Impairment and with or without Seizures ISO RGD:68996 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: CACNA1I-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and with or without seizures PMID:25741868|PMID:33704440 8908191 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:9002211 Hyperalgesia ISO RGD:68944 D RGD:9068941 20200609 RGD PMID:17112407|REF_RGD_ID:15003199 8908191 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:9008086 Developmental Disabilities ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8908191 Cacna1i calcium voltage-gated channel subunit alpha1 I gene DOID:9009131 Ventriculomegaly ISO RGD:68996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 8908232 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:0050144 Kartagener syndrome ISO RGD:737610 D RGD:9068941 20220825 MouseDO 8908232 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:0050545 visceral heterotaxy ISO RGD:737610 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8908232 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1350470 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8908232 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:630 genetic disease ISO RGD:1350470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30367527 8908232 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:9001276 Failure to Thrive ISO RGD:1350470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 8908232 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:9007169 Ichthyosiform Erythroderma, Corneal Involvement, Deafness ISO RGD:1350470 D RGD:7240710 20200422 OMIM 8908232 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:9007169 Ichthyosiform Erythroderma, Corneal Involvement, Deafness ISO RGD:1350470 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome PMID:25741868|PMID:31630788|PMID:31630791|PMID:32969855|PMID:33349978|PMID:33452671|PMID:35144013 8908232 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8908232 Ap1b1 adaptor related protein complex 1 subunit beta 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:737610 D RGD:9068941 20220825 MouseDO 8908274 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:0070129 autosomal recessive cutis laxa type IID ISO RGD:1323585 D RGD:7240710 20190315 OMIM 8908274 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:0070129 autosomal recessive cutis laxa type IID ISO RGD:1323585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID PMID:24459010|PMID:25741868|PMID:28065471|PMID:28492532 8908274 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1323585 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:25741868 8908274 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:0112275 developmental and epileptic encephalopathy 93 ISO RGD:1323585 D RGD:7240710 20190315 OMIM 8908274 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:0112275 developmental and epileptic encephalopathy 93 ISO RGD:1323585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 | ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 3 PMID:23334411|PMID:25741868|PMID:28492532|PMID:29668857|PMID:35675510 8908274 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:630 genetic disease ISO RGD:1323585 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23334411|PMID:25741868|PMID:28492532|PMID:29668857 8908274 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1323585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 8908274 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:9008582 Developmental Disease ISO RGD:1323585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8908274 Atp6v1a ATPase H+ transporting V1 subunit A gene DOID:936 brain disease ISO RGD:1323585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 8908293 Sgo1 shugoshin 1 gene DOID:0060339 chronic atrial and intestinal dysrhythmia ISO RGD:1344948 D RGD:7240710 20180130 OMIM 8908293 Sgo1 shugoshin 1 gene DOID:0060339 chronic atrial and intestinal dysrhythmia ISO RGD:1344948 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic atrial and intestinal dysrhythmia PMID:25282101|PMID:25741868 8908293 Sgo1 shugoshin 1 gene DOID:5295 intestinal disease ISO RGD:1344948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25282101 8908293 Sgo1 shugoshin 1 gene DOID:630 genetic disease ISO RGD:1344948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908293 Sgo1 shugoshin 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1344948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25282101 8908293 Sgo1 shugoshin 1 gene DOID:9004980 Chronobiology Disorders ISO RGD:1344948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25282101 8908308 Nes nestin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8908308 Nes nestin gene DOID:0111940 immunodeficiency 42 ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8908308 Nes nestin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8908308 Nes nestin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8908308 Nes nestin gene DOID:1540 parathyroid carcinoma ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8908308 Nes nestin gene DOID:2316 brain ischemia ISO RGD:3162 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:17697621|REF_RGD_ID:1642071 8908308 Nes nestin gene DOID:2527 nephrosis ISO RGD:3162 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:17637254|REF_RGD_ID:1642072 8908308 Nes nestin gene DOID:2527 nephrosis ISO RGD:737242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16418842 8908308 Nes nestin gene DOID:3021 acute kidney failure ISO RGD:3162 D RGD:9068941 20200609 RGD PMID:24503548|REF_RGD_ID:11570523 8908308 Nes nestin gene DOID:3454 brain infarction ISO RGD:3162 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16321245|REF_RGD_ID:1642069 8908308 Nes nestin gene DOID:5812 MHC class II deficiency ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8908308 Nes nestin gene DOID:630 genetic disease ISO RGD:737242 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8908308 Nes nestin gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:737242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16137769 8908308 Nes nestin gene DOID:9001004 Chronic Periodontitis ISO RGD:737242 D RGD:9068941 20200609 RGD mRNA:decreased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 8908308 Nes nestin gene DOID:9004009 Reperfusion Injury ISO RGD:3162 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17569338|REF_RGD_ID:1642074 8908308 Nes nestin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3162 D RGD:9068941 20200609 RGD PMID:24503548|REF_RGD_ID:11570523 8908308 Nes nestin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8908324 Cipc CLOCK interacting pacemaker gene DOID:1059 intellectual disability ISO RGD:1319859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8908324 Cipc CLOCK interacting pacemaker gene DOID:630 genetic disease ISO RGD:1319859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908363 Pex3 peroxisomal biogenesis factor 3 gene DOID:0050444 infantile Refsum disease ISO RGD:1352714 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:10942428|PMID:21031596|PMID:28492532 8908363 Pex3 peroxisomal biogenesis factor 3 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1352714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10942428 8908363 Pex3 peroxisomal biogenesis factor 3 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1352714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:10958759|PMID:10968777|PMID:25741868|PMID:7562283 8908363 Pex3 peroxisomal biogenesis factor 3 gene DOID:0080484 peroxisome biogenesis disorder 10A ISO RGD:1352714 D RGD:7240710 20180130 OMIM 8908363 Pex3 peroxisomal biogenesis factor 3 gene DOID:0080484 peroxisome biogenesis disorder 10A ISO RGD:1352714 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: PEX3-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A (Zellweger) PMID:10942428|PMID:10958759|PMID:10968777|PMID:16199547|PMID:21031596|PMID:25741868|PMID:28492532|PMID:7562283 8908363 Pex3 peroxisomal biogenesis factor 3 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1352714 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 8908363 Pex3 peroxisomal biogenesis factor 3 gene DOID:630 genetic disease ISO RGD:1352714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8908363 Pex3 peroxisomal biogenesis factor 3 gene DOID:9006868 Peroxisome Biogenesis Disorder 10B ISO RGD:1352714 D RGD:7240710 20190315 OMIM 8908363 Pex3 peroxisomal biogenesis factor 3 gene DOID:9006868 Peroxisome Biogenesis Disorder 10B ISO RGD:1352714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10B PMID:25741868|PMID:27557811|PMID:28492532 8908363 Pex3 peroxisomal biogenesis factor 3 gene DOID:905 Zellweger syndrome ISO RGD:1352714 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum 8908363 Pex3 peroxisomal biogenesis factor 3 gene DOID:905 Zellweger syndrome ISO RGD:1352714 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:10942428|PMID:21031596|PMID:28492532 8908379 Gcat glycine C-acetyltransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8908379 Gcat glycine C-acetyltransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8908379 Gcat glycine C-acetyltransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8908379 Gcat glycine C-acetyltransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8908379 Gcat glycine C-acetyltransferase gene DOID:630 genetic disease ISO RGD:1316396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908379 Gcat glycine C-acetyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8908417 Pgrmc2 progesterone receptor membrane component 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1318787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8908417 Pgrmc2 progesterone receptor membrane component 2 gene DOID:630 genetic disease ISO RGD:1318787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908424 Sstr2 somatostatin receptor 2 gene DOID:0050773 paraganglioma ISO RGD:1346941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29163802 8908424 Sstr2 somatostatin receptor 2 gene DOID:169 neuroendocrine tumor ISO RGD:1346941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 8908424 Sstr2 somatostatin receptor 2 gene DOID:1793 pancreatic cancer ISO RGD:1346941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15259086|PMID:17625444|PMID:19917848 8908424 Sstr2 somatostatin receptor 2 gene DOID:1824 status epilepticus ISO RGD:1346941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 8908424 Sstr2 somatostatin receptor 2 gene DOID:630 genetic disease ISO RGD:1346941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908424 Sstr2 somatostatin receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:3763 D RGD:9068941 20200609 RGD PMID:11879809|REF_RGD_ID:2325002 8908424 Sstr2 somatostatin receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3763 D RGD:9068941 20200609 RGD PMID:7956902|REF_RGD_ID:2325008 8908445 Mettl9 methyltransferase 9, His-X-His N1(pi)-histidine gene DOID:0080600 COVID-19 ISO RGD:1602890 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8908445 Mettl9 methyltransferase 9, His-X-His N1(pi)-histidine gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1602890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:25741868|PMID:33492714 8908445 Mettl9 methyltransferase 9, His-X-His N1(pi)-histidine gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1602890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 PMID:25741868 8908445 Mettl9 methyltransferase 9, His-X-His N1(pi)-histidine gene DOID:630 genetic disease ISO RGD:1602890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908462 Pdpn podoplanin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606573 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8908462 Pdpn podoplanin gene DOID:11394 adult respiratory distress syndrome ISO RGD:61819 D RGD:9068941 20200609 RGD PMID:11790662|REF_RGD_ID:2292244 8908462 Pdpn podoplanin gene DOID:12215 oligohydramnios ISO RGD:61819 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:11839536|REF_RGD_ID:2292243 8908462 Pdpn podoplanin gene DOID:1790 malignant mesothelioma ISO RGD:1606573 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8908462 Pdpn podoplanin gene DOID:2527 nephrosis ISO RGD:61819 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:glomerulus PMID:9327748|REF_RGD_ID:632934 8908462 Pdpn podoplanin gene DOID:3068 glioblastoma ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:16979138|REF_RGD_ID:2292241 8908462 Pdpn podoplanin gene DOID:3304 germinoma ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:16718353|REF_RGD_ID:2292236 8908462 Pdpn podoplanin gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:16528371|REF_RGD_ID:2292237 8908462 Pdpn podoplanin gene DOID:4440 seminoma ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:17951198|REF_RGD_ID:2292234 8908462 Pdpn podoplanin gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1606573 D RGD:9068941 20200609 RGD PMID:18291512|REF_RGD_ID:2292239 8908462 Pdpn podoplanin gene DOID:630 genetic disease ISO RGD:1606573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908462 Pdpn podoplanin gene DOID:8719 in situ carcinoma ISO RGD:1606573 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:16736189|REF_RGD_ID:2292235 8908462 Pdpn podoplanin gene DOID:874 bacterial pneumonia ISO RGD:61819 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:7864138|REF_RGD_ID:2292375 8908462 Pdpn podoplanin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606573 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18165897|REF_RGD_ID:2292231 8908462 Pdpn podoplanin gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606573 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:16528371|REF_RGD_ID:2292237 8908462 Pdpn podoplanin gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1606573 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:16736189|REF_RGD_ID:2292235 8908462 Pdpn podoplanin gene DOID:9001542 Albuminuria ISO RGD:61819 D RGD:9068941 20200609 RGD PMID:18199599|REF_RGD_ID:2292240 8908462 Pdpn podoplanin gene DOID:9001834 Peritoneal Neoplasms ISO RGD:1606573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8908462 Pdpn podoplanin gene DOID:9005372 Inflammation ISO RGD:61819 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:15849211|REF_RGD_ID:2292242 8908462 Pdpn podoplanin gene DOID:9007480 Hyperoxia ISO RGD:61819 D RGD:9068941 20200609 RGD protein:increased tyrosine nitration:lung PMID:12922978|REF_RGD_ID:1302251 8908472 Spata4 spermatogenesis associated 4 gene DOID:630 genetic disease ISO RGD:1348615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908472 Spata4 spermatogenesis associated 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8908494 Phf8 PHD finger protein 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8908494 Phf8 PHD finger protein 8 gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:1347460 D RGD:7240710 20180130 OMIM 8908494 Phf8 PHD finger protein 8 gene DOID:0060812 syndromic X-linked intellectual disability Siderius type ISO RGD:1347460 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type PMID:10398231|PMID:16199551|PMID:17594395|PMID:17661819|PMID:25741868|PMID:28492532|PMID:35469323 8908494 Phf8 PHD finger protein 8 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1347460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8908494 Phf8 PHD finger protein 8 gene DOID:10283 prostate cancer ISO RGD:1347460 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:22120715|REF_RGD_ID:9586733 8908494 Phf8 PHD finger protein 8 gene DOID:1059 intellectual disability ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:28492532 8908494 Phf8 PHD finger protein 8 gene DOID:12849 autistic disorder ISO RGD:1347460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8908494 Phf8 PHD finger protein 8 gene DOID:630 genetic disease ISO RGD:1347460 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1312228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1312228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1312228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:0080600 COVID-19 severity ISO RGD:1312228 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:0080942 anauxetic dysplasia ISO RGD:1312228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1312228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:1790 malignant mesothelioma ISO RGD:1312228 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:2773 contact dermatitis ISO RGD:1312228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:2841 asthma ISO RGD:1312228 D RGD:9068941 20200609 RGD PMID:19541356|REF_RGD_ID:5130899 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:3310 atopic dermatitis ISO RGD:1312228 D RGD:9068941 20200609 RGD PMID:12642842|REF_RGD_ID:1626250 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:630 genetic disease ISO RGD:1312228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312228 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8908528 Ccl27 C-C motif chemokine ligand 27 gene DOID:9870 galactosemia ISO RGD:1312228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8908540 Mst1r macrophage stimulating 1 receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8908540 Mst1r macrophage stimulating 1 receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8908540 Mst1r macrophage stimulating 1 receptor gene DOID:3347 osteosarcoma ISO RGD:1315099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22235915 8908540 Mst1r macrophage stimulating 1 receptor gene DOID:630 genetic disease ISO RGD:1315099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908540 Mst1r macrophage stimulating 1 receptor gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8908540 Mst1r macrophage stimulating 1 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1315099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22575169 8908540 Mst1r macrophage stimulating 1 receptor gene DOID:9261 nasopharynx carcinoma ISO RGD:1315099 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 PMID:25741868|PMID:26951679|PMID:28492532 8908540 Mst1r macrophage stimulating 1 receptor gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:1315099 D RGD:7240710 20201104 OMIM 8908540 Mst1r macrophage stimulating 1 receptor gene DOID:9538 multiple myeloma ISO RGD:1315099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8908540 Mst1r macrophage stimulating 1 receptor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315099 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:733323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:1059 intellectual disability ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:1612 breast cancer ISO RGD:733323 D RGD:9068941 20200609 RGD PMID:11827167|REF_RGD_ID:727632 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:5844 myocardial infarction ISO RGD:621663 D RGD:9068941 20200609 RGD PMID:15090263|REF_RGD_ID:11565830 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:630 genetic disease ISO RGD:733323 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11574463|PMID:24395637|PMID:25363768|PMID:25741868|PMID:27048600|PMID:28135719|PMID:28492532|PMID:29240241|PMID:29383814|PMID:29619237|PMID:30655572|PMID:32746809|PMID:33944995 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9001345 Okur-Chung Neurodevelopmental Syndrome ISO RGD:733323 D RGD:7240710 20190315 OMIM 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9001345 Okur-Chung Neurodevelopmental Syndrome ISO RGD:733323 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome PMID:11574463|PMID:24395637|PMID:25363768|PMID:25741868|PMID:27048600|PMID:28135719|PMID:28492532|PMID:28725024|PMID:29240241|PMID:29383814|PMID:29619237|PMID:30655572|PMID:32371413|PMID:32746809|PMID:33944995|PMID:34038195 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:733324 D RGD:9068941 20200609 RGD PMID:16651637|REF_RGD_ID:11565123 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9004464 Skin Neoplasms ISO RGD:733323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621663 D RGD:9068941 20200609 RGD PMID:11827167|REF_RGD_ID:727632 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733324 D RGD:9068941 20200609 RGD PMID:11827167|REF_RGD_ID:727632 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:733323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 8908579 Csnk2a1 casein kinase 2 alpha 1 gene DOID:9008582 Developmental Disease ISO RGD:733323 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:11574463|PMID:24395637|PMID:25741868|PMID:27048600|PMID:28135719|PMID:29240241|PMID:29383814|PMID:33944995 8908613 Erg28 ergosterol biosynthesis 28 homolog gene DOID:1059 intellectual disability ISO RGD:1321865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:70369 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:70369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2141 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered location:bile duct, epithelial cell PMID:18988797|REF_RGD_ID:2307071 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:10763 hypertension ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:20156423|REF_RGD_ID:5148031 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:10763 hypertension ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:10908 hydrocephalus disease_progression ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:21135737|REF_RGD_ID:5148011 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:13141 uveitis ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:20383338|REF_RGD_ID:5148029 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:14115 toxic shock syndrome ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24028651 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:1727 retinal vein occlusion ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:1824 status epilepticus ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:19619613|REF_RGD_ID:2316077 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:305 carcinoma ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:4724 brain edema ISO RGD:2141 D RGD:9068941 20200609 RGD associated with Anoxia PMID:21560328|REF_RGD_ID:5148033 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:4724 brain edema ISO RGD:70369 D RGD:9068941 20230727 RGD mRNA:increased expression:neocortex, Pyramidal cells (human) PMID:27487831|REF_RGD_ID:329969876 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70369 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:630 genetic disease ISO RGD:70369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:636 central pontine myelinolysis ISO RGD:70369 D RGD:9068941 20200609 RGD protein:altered expression:basal part of pons: PMID:24252214|REF_RGD_ID:8696006 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:7998 hyperthyroidism ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12621104 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:899 choledochal cyst ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:9000039 Spinal Cord Injuries ISO RGD:2141 D RGD:9068941 20200609 RGD PMID:21092735|REF_RGD_ID:5148013 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:9000039 Spinal Cord Injuries ISO RGD:2141 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, neuron, astrocyte PMID:18248364|REF_RGD_ID:2307072 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:9000039 Spinal Cord Injuries ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:9000641 Pain ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018876 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:9002860 Cardiac Edema ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22865611 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:9004180 Aquaporin 1 Deficiency ISO RGD:70369 D RGD:7240710 20221130 OMIM 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2141 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:19596320|REF_RGD_ID:2316078 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:9351 diabetes mellitus ISO RGD:2141 D RGD:9068941 20200609 RGD protein:altered localization:retina PMID:19748503|REF_RGD_ID:2316076 8908628 Aqp1 aquaporin 1 (Colton blood group) gene DOID:9428 intracranial hypertension ISO RGD:70369 D RGD:9068941 20230727 RGD mRNA:increased expression:neocortex, Pyramidal cells (human) PMID:27487831|REF_RGD_ID:329969876 8908636 Cimip4 ciliary microtubule inner protein 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1606105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8908636 Cimip4 ciliary microtubule inner protein 4 gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1606105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 8908636 Cimip4 ciliary microtubule inner protein 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1606105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8908636 Cimip4 ciliary microtubule inner protein 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1606105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8908636 Cimip4 ciliary microtubule inner protein 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1606105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8908636 Cimip4 ciliary microtubule inner protein 4 gene DOID:630 genetic disease ISO RGD:1606105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908656 Ajuba ajuba LIM protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1343876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8908656 Ajuba ajuba LIM protein gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1343876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8908656 Ajuba ajuba LIM protein gene DOID:630 genetic disease ISO RGD:1343876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908656 Ajuba ajuba LIM protein gene DOID:9000265 Specific Granule Deficiency ISO RGD:1343876 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8908656 Ajuba ajuba LIM protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343876 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8908668 Mmadhc metabolism of cobalamin associated D gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1346733 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:16199547|PMID:18385497|PMID:22156578|PMID:25155779|PMID:25741868|PMID:28492532|PMID:32252256|PMID:33552904 8908668 Mmadhc metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:7240710 20180130 OMIM 8908668 Mmadhc metabolism of cobalamin associated D gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1346733 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Homocystinuria, cblD type, variant 1 | ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD | ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria, cblD type, variant 2 PMID:15292234|PMID:16199547|PMID:17576681|PMID:18385497|PMID:19058814|PMID:22156578|PMID:24033266|PMID:25155779|PMID:25741868|PMID:27252276|PMID:28492532|PMID:28939051|PMID:29620684|PMID:32252256|PMID:33552904|PMID:5524089|PMID:9536098 8908668 Mmadhc metabolism of cobalamin associated D gene DOID:630 genetic disease ISO RGD:1346733 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8908668 Mmadhc metabolism of cobalamin associated D gene DOID:655 inherited metabolic disorder ISO RGD:1346733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:24033266|PMID:25741868|PMID:28492532 8908683 Sytl5 synaptotagmin like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8908683 Sytl5 synaptotagmin like 5 gene DOID:0070195 X-linked chronic granulomatous disease ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked PMID:22929960|PMID:27701760|PMID:28492532 8908683 Sytl5 synaptotagmin like 5 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 8908683 Sytl5 synaptotagmin like 5 gene DOID:12849 autistic disorder ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8908683 Sytl5 synaptotagmin like 5 gene DOID:630 genetic disease ISO RGD:736279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908683 Sytl5 synaptotagmin like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8908683 Sytl5 synaptotagmin like 5 gene DOID:9007661 Dwarfism ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8908683 Sytl5 synaptotagmin like 5 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:736279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:10946359|PMID:11793468|PMID:16786505|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8908683 Sytl5 synaptotagmin like 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:736279 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8908705 Vdac2 voltage dependent anion channel 2 gene DOID:11832 visual epilepsy treatment ISO RGD:621576 D RGD:9068941 20200609 RGD PMID:17893921|REF_RGD_ID:10003051 8908705 Vdac2 voltage dependent anion channel 2 gene DOID:1749 squamous cell carcinoma ISO RGD:731822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8908705 Vdac2 voltage dependent anion channel 2 gene DOID:1826 epilepsy ISO RGD:731822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17893921 8908705 Vdac2 voltage dependent anion channel 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:621576 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:18186018|REF_RGD_ID:10003053 8908705 Vdac2 voltage dependent anion channel 2 gene DOID:5844 myocardial infarction treatment ISO RGD:621576 D RGD:9068941 20200609 RGD PMID:20601275|REF_RGD_ID:10003049 8908705 Vdac2 voltage dependent anion channel 2 gene DOID:627 severe combined immunodeficiency ISO RGD:731822 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25741868 8908705 Vdac2 voltage dependent anion channel 2 gene DOID:630 genetic disease ISO RGD:731822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908705 Vdac2 voltage dependent anion channel 2 gene DOID:8398 osteoarthritis ISO RGD:731822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8908705 Vdac2 voltage dependent anion channel 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19634143 8908705 Vdac2 voltage dependent anion channel 2 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:731822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 8908705 Vdac2 voltage dependent anion channel 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:731822 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8908705 Vdac2 voltage dependent anion channel 2 gene DOID:9007730 Burns ISO RGD:621576 D RGD:9068941 20200609 RGD PMID:23863682|REF_RGD_ID:10003047 8908732 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8908732 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1603527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 8908732 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1603527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 8908732 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1603527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8908732 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:630 genetic disease ISO RGD:1603527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908732 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1603527 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 8908732 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8908732 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1603527 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 8908732 Tab3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1603527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8908763 Psma6 proteasome 20S subunit alpha 6 gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:736338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 8908763 Psma6 proteasome 20S subunit alpha 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:736338 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8908763 Psma6 proteasome 20S subunit alpha 6 gene DOID:5844 myocardial infarction ISO RGD:736338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:16845397|PMID:19282875 8908763 Psma6 proteasome 20S subunit alpha 6 gene DOID:5844 myocardial infarction susceptibility ISO RGD:736338 D RGD:7240710 20190502 OMIM 8908763 Psma6 proteasome 20S subunit alpha 6 gene DOID:630 genetic disease ISO RGD:736338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908763 Psma6 proteasome 20S subunit alpha 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736338 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8908777 Znf200 zinc finger protein 200 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8908777 Znf200 zinc finger protein 200 gene DOID:1826 epilepsy ISO RGD:1349966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8908777 Znf200 zinc finger protein 200 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349966 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8908777 Znf200 zinc finger protein 200 gene DOID:630 genetic disease ISO RGD:1349966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908797 NUAK1 NUAK family kinase 1 gene DOID:13223 uterine fibroid ISO RGD:1605098 D RGD:9068941 20231102 RGD mRNA:decreased expression:uterus (human) PMID:23818951|REF_RGD_ID:401851920 8908797 Nuak1 NUAK family kinase 1 gene DOID:0080600 COVID-19 ISO RGD:1605098 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8908797 Nuak1 NUAK family kinase 1 gene DOID:630 genetic disease ISO RGD:1605098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908797 Nuak1 NUAK family kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1605098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588|PMID:26873845 8908797 Nuak1 NUAK family kinase 1 gene DOID:9538 multiple myeloma ISO RGD:1605098 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26873845 8908814 Faim Fas apoptotic inhibitory molecule gene DOID:630 genetic disease ISO RGD:1605660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1321715 D RGD:9068941 20220825 MouseDO OMIM:607785 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:1321714 D RGD:9068941 20210723 RGD DNA:polymorphisms:multiple PMID:33075166|REF_RGD_ID:149735513 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1321714 D RGD:9068941 20210723 RGD mRNA:decreased expression:oral epithelium (human) PMID:32048621|REF_RGD_ID:149735374 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia PMID:22417203 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17454189|PMID:24160850|PMID:26285909 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:15718420|REF_RGD_ID:11049481 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:0060903 thrombosis ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16932337 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:0070004 myeloid neoplasm ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:17936561|REF_RGD_ID:11049465 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:0080600 COVID-19 ISO RGD:1321714 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1321714 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bone marrow: PMID:8562934|REF_RGD_ID:11049466 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:0081082 acute myelomonocytic leukemia treatment ISO RGD:1321714 D RGD:9068941 20200609 RGD PMID:22187040|REF_RGD_ID:11049503 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:10283 prostate cancer ISO RGD:1321714 D RGD:9068941 20200609 RGD PMID:14977818|REF_RGD_ID:2302209 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:4971 myelofibrosis ISO RGD:1321714 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:multiple: PMID:21487043|REF_RGD_ID:11049484 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:1321714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1321714 D RGD:9068941 20210723 RGD human cells in mouse model PMID:27511526|REF_RGD_ID:149735514 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:8692 myeloid leukemia ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:17936561|REF_RGD_ID:11049465 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1321715 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:14566827|REF_RGD_ID:2302210 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9000647 Acute Erythroleukemia ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9001039 Leukocytosis ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27099147|PMID:27725143 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:10786663|REF_RGD_ID:2302208 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9002457 Experimental Arthritis ISO RGD:61308 D RGD:9068941 20200609 RGD PMID:10857786|REF_RGD_ID:61066 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9002720 Splenomegaly ISO RGD:1321714 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1321715 D RGD:9068941 20200609 RGD PMID:10498246|REF_RGD_ID:2302211 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1321714 D RGD:9068941 20201218 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:26541527|REF_RGD_ID:40902860 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321714 D RGD:7240710 20180130 OMIM 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1321714 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, reduced survival in, somatic PMID:11091200|PMID:11290608|PMID:11442493|PMID:12384447|PMID:14604974|PMID:14670924|PMID:14737077|PMID:15256420|PMID:15374878|PMID:15625552|PMID:15667533|PMID:15863200|PMID:16091740|PMID:16371029|PMID:16410449|PMID:16573742|PMID:16857985|PMID:16990784|PMID:17047150|PMID:17387224|PMID:17606455|PMID:17889720|PMID:17942876|PMID:19602710|PMID:19657110|PMID:19840437|PMID:20733134|PMID:22368270|PMID:22504183|PMID:22504184|PMID:22504185|PMID:22504186|PMID:23261068|PMID:23321257|PMID:23430109|PMID:23714533|PMID:23783394|PMID:23878140|PMID:24046014|PMID:24619500|PMID:25157968|PMID:25741868 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1321714 D RGD:9068941 20200609 RGD DNA:duplication mutation:cds: PMID:16642044|REF_RGD_ID:11049467 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1321714 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:23969938|REF_RGD_ID:11049482 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321714 D RGD:9068941 20210723 RGD mRNA:decreased expression:gastrointestinal system smooth muscle (human) PMID:21171987|REF_RGD_ID:149735515 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9538 multiple myeloma ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1321714 D RGD:7240710 20230505 OMIM 8908836 Flt3 fms related receptor tyrosine kinase 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1321714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia PMID:11290608|PMID:11442493|PMID:14604974|PMID:14670924|PMID:15256420|PMID:16857985|PMID:17606455|PMID:17889720|PMID:19657110|PMID:20733134|PMID:22368270|PMID:22504183|PMID:22504184|PMID:23261068|PMID:23321257|PMID:23430109|PMID:23714533|PMID:23783394|PMID:24046014|PMID:25157968 8908894 Ints12 integrator complex subunit 12 gene DOID:630 genetic disease ISO RGD:1601748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908905 Osbpl1a oxysterol binding protein like 1A gene DOID:1059 intellectual disability ISO RGD:731675 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8908905 Osbpl1a oxysterol binding protein like 1A gene DOID:630 genetic disease ISO RGD:731675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908952 Ccdc54 coiled-coil domain containing 54 gene DOID:630 genetic disease ISO RGD:1606758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908962 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8908962 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8908962 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8908962 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:1606368 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 PMID:11038441|PMID:11941538|PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 8908962 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:10907 microcephaly ISO RGD:1606368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8908962 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:630 genetic disease ISO RGD:1606368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 8908962 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:65 connective tissue disease ISO RGD:1606368 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 8908962 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:9005084 Kniest Like Dysplasia Lethal ISO RGD:1606368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 8908962 Ldlrad2 low density lipoprotein receptor class A domain containing 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8908971 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:0050902 medulloblastoma ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18347096 8908971 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:1316775 D RGD:9068941 20220825 MouseDO OMIM:247200 8908971 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:4448 macular degeneration ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 8908971 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1316774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8908971 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:9003896 Polyps ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297660 8908971 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297660 8908971 Hic1 HIC ZBTB transcriptional repressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20154726 8908983 Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:0050952 spastic ataxia ISO RGD:1346928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8908983 Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:0060557 ataxia with oculomotor apraxia type 3 ISO RGD:1346928 D RGD:7240710 20180130 OMIM 8908983 Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:0060557 ataxia with oculomotor apraxia type 3 ISO RGD:1346928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 PMID:22065524|PMID:25741868|PMID:28492532|PMID:33116287 8908983 Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:219 colon cancer ISO RGD:1346928 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:15123805|REF_RGD_ID:13432047 8908983 Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 gene DOID:630 genetic disease ISO RGD:1346928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1319932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1615764 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1319932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1319932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:23877401|PMID:25558065 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1319932 D RGD:7240710 20190315 OMIM 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:17576681|PMID:22219654|PMID:23877401|PMID:25558065|PMID:25741868|PMID:28492532|PMID:9536098 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1319932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:2746 glycogen storage disease V ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319932 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8909007 B4gat1 beta-1,4-glucuronyltransferase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8909023 Ubac2 UBA domain containing 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1323278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 8909023 Ubac2 UBA domain containing 2 gene DOID:14701 propionic acidemia ISO RGD:1323278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8909023 Ubac2 UBA domain containing 2 gene DOID:4621 holoprosencephaly ISO RGD:1323278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 8909023 Ubac2 UBA domain containing 2 gene DOID:630 genetic disease ISO RGD:1323278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909023 Ubac2 UBA domain containing 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1323278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8909037 Scrn2 secernin 2 gene DOID:630 genetic disease ISO RGD:1317110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909051 Ano10 anoctamin 10 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1605667 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis PMID:11590543|PMID:25741868|PMID:28492532 8909051 Ano10 anoctamin 10 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1605667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:24033266|PMID:25089919|PMID:25133958|PMID:25182700|PMID:25664549|PMID:25664551|PMID:25741868|PMID:26467025|PMID:27045840|PMID:27142713|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30078120 8909051 Ano10 anoctamin 10 gene DOID:0050999 autosomal recessive spinocerebellar ataxia 10 ISO RGD:1605667 D RGD:7240710 20180130 OMIM 8909051 Ano10 anoctamin 10 gene DOID:0050999 autosomal recessive spinocerebellar ataxia 10 ISO RGD:1605667 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 PMID:16199547|PMID:21092923|PMID:24033266|PMID:25089919|PMID:25133958|PMID:25182700|PMID:25425649|PMID:25664549|PMID:25664551|PMID:25730773|PMID:25741868|PMID:25976027|PMID:26467025|PMID:27045840|PMID:27091155|PMID:27142713|PMID:27270446|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30078120|PMID:30515630|PMID:31477691|PMID:32620747|PMID:32816195|PMID:33223419|PMID:33624863|PMID:34234304|PMID:34445196|PMID:34906502 8909051 Ano10 anoctamin 10 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1605667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8909051 Ano10 anoctamin 10 gene DOID:630 genetic disease ISO RGD:1605667 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8909051 Ano10 anoctamin 10 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1605667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive PMID:24033266|PMID:25089919|PMID:25133958|PMID:25182700|PMID:25664549|PMID:25664551|PMID:25741868|PMID:26467025|PMID:27045840|PMID:27142713|PMID:28492532|PMID:29482223|PMID:29915382|PMID:30078120 8909067 Cd8b CD8 subunit beta gene DOID:630 genetic disease ISO RGD:736307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909067 Cd8b CD8 subunit beta gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736307 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8909085 Usp46 ubiquitin specific peptidase 46 gene DOID:630 genetic disease ISO RGD:1344409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909107 Med17 mediator complex subunit 17 gene DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ISO RGD:1322408 D RGD:7240710 20180130 OMIM 8909107 Med17 mediator complex subunit 17 gene DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ISO RGD:1322408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly PMID:18414213|PMID:20950787|PMID:25741868|PMID:26004231|PMID:26240385|PMID:28492532|PMID:30345598|PMID:30919572 8909107 Med17 mediator complex subunit 17 gene DOID:1059 intellectual disability ISO RGD:1322408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8909107 Med17 mediator complex subunit 17 gene DOID:10907 microcephaly ISO RGD:1322408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8909107 Med17 mediator complex subunit 17 gene DOID:289 endometriosis ISO RGD:1322408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8909107 Med17 mediator complex subunit 17 gene DOID:630 genetic disease ISO RGD:1322408 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20950787|PMID:25741868|PMID:26004231|PMID:28492532|PMID:30345598 8909141 Garin4 golgi associated RAB2 interactor family member 4 gene DOID:13501 Moebius syndrome ISO RGD:1606700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 8909141 Garin4 golgi associated RAB2 interactor family member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1606700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8909141 Garin4 golgi associated RAB2 interactor family member 4 gene DOID:630 genetic disease ISO RGD:1606700 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909141 Garin4 golgi associated RAB2 interactor family member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8909146 Iqcf2 IQ motif containing F2 gene DOID:630 genetic disease ISO RGD:1350039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909158 Lrcol1 leucine rich colipase like 1 gene DOID:630 genetic disease ISO RGD:6770658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909158 Lrcol1 leucine rich colipase like 1 gene DOID:9256 colorectal cancer ISO RGD:6770658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8909167 Aifm3 apoptosis inducing factor mitochondria associated 3 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604991 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8909167 Aifm3 apoptosis inducing factor mitochondria associated 3 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1604991 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8909167 Aifm3 apoptosis inducing factor mitochondria associated 3 gene DOID:1059 intellectual disability ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8909167 Aifm3 apoptosis inducing factor mitochondria associated 3 gene DOID:11198 DiGeorge syndrome ISO RGD:1604991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8909167 Aifm3 apoptosis inducing factor mitochondria associated 3 gene DOID:11372 megacolon ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8909167 Aifm3 apoptosis inducing factor mitochondria associated 3 gene DOID:12583 velocardiofacial syndrome ISO RGD:1604991 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8909167 Aifm3 apoptosis inducing factor mitochondria associated 3 gene DOID:12849 autistic disorder ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8909167 Aifm3 apoptosis inducing factor mitochondria associated 3 gene DOID:1826 epilepsy ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8909167 Aifm3 apoptosis inducing factor mitochondria associated 3 gene DOID:5419 schizophrenia ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8909167 Aifm3 apoptosis inducing factor mitochondria associated 3 gene DOID:612 primary immunodeficiency disease ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8909167 Aifm3 apoptosis inducing factor mitochondria associated 3 gene DOID:630 genetic disease ISO RGD:1604991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909167 Aifm3 apoptosis inducing factor mitochondria associated 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8909240 Cd247 CD247 molecule gene DOID:0080600 COVID-19 ISO RGD:736538 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8909240 Cd247 CD247 molecule gene DOID:0111942 immunodeficiency 25 ISO RGD:736538 D RGD:7240710 20180130 OMIM 8909240 Cd247 CD247 molecule gene DOID:0111942 immunodeficiency 25 ISO RGD:736538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:16672702|PMID:17170122|PMID:17576681|PMID:25741868|PMID:26542031|PMID:28492532|PMID:9536098 8909240 Cd247 CD247 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:736538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8909240 Cd247 CD247 molecule gene DOID:418 systemic scleroderma ISO RGD:736538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20383147 8909240 Cd247 CD247 molecule gene DOID:630 genetic disease ISO RGD:736538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8909240 Cd247 CD247 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8909255 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:0060041 autism spectrum disorder ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8909255 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:12849 autistic disorder ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8909255 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:1928 Williams-Beuren syndrome ISO RGD:1349003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8909255 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8909255 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:5419 schizophrenia ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8909255 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:630 genetic disease ISO RGD:1349003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909255 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:8445 intestinal volvulus ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8909255 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8909255 Bcl7b BAF chromatin remodeling complex subunit BCL7B gene DOID:9008419 Volvulus Of Midgut ISO RGD:1349003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8909288 Bcl11a BCL11 transcription factor A gene DOID:0060041 autism spectrum disorder ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25363760|REF_RGD_ID:11099981 8909288 Bcl11a BCL11 transcription factor A gene DOID:0060135 apraxia ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27120335 8909288 Bcl11a BCL11 transcription factor A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 8909288 Bcl11a BCL11 transcription factor A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8909288 Bcl11a BCL11 transcription factor A gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:1320527 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 PMID:25741868 8909288 Bcl11a BCL11 transcription factor A gene DOID:0080600 COVID-19 ISO RGD:1320527 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 8909288 Bcl11a BCL11 transcription factor A gene DOID:1059 intellectual disability ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8909288 Bcl11a BCL11 transcription factor A gene DOID:10923 sickle cell anemia severity ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) PMID:18667698|REF_RGD_ID:11099970 8909288 Bcl11a BCL11 transcription factor A gene DOID:10923 sickle cell anemia severity ISO RGD:1320528 D RGD:9068941 20200609 RGD PMID:21998251|REF_RGD_ID:11099996 8909288 Bcl11a BCL11 transcription factor A gene DOID:10923 sickle cell anemia treatment ISO RGD:1320527 D RGD:9068941 20200609 RGD PMID:22360576|REF_RGD_ID:11100007 8909288 Bcl11a BCL11 transcription factor A gene DOID:11612 polycystic ovary syndrome ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8909288 Bcl11a BCL11 transcription factor A gene DOID:12241 beta thalassemia ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human) PMID:22258351|REF_RGD_ID:11100005 8909288 Bcl11a BCL11 transcription factor A gene DOID:12241 beta thalassemia severity ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snp:intron:c.386-17267T>C (rs10189857) (human) PMID:25751242|REF_RGD_ID:11100008 8909288 Bcl11a BCL11 transcription factor A gene DOID:12241 beta thalassemia severity ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human) PMID:23541515|REF_RGD_ID:11099969 8909288 Bcl11a BCL11 transcription factor A gene DOID:12241 beta thalassemia treatment ISO RGD:1320527 D RGD:9068941 20200609 RGD PMID:25574177|REF_RGD_ID:11100011 8909288 Bcl11a BCL11 transcription factor A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1320527 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:23758992|REF_RGD_ID:11099968 8909288 Bcl11a BCL11 transcription factor A gene DOID:5419 schizophrenia ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:25938782|REF_RGD_ID:11099977 8909288 Bcl11a BCL11 transcription factor A gene DOID:630 genetic disease ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12196208|PMID:25741868|PMID:29985992 8909288 Bcl11a BCL11 transcription factor A gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 8909288 Bcl11a BCL11 transcription factor A gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1320527 D RGD:9068941 20200609 RGD DNA:translocation:5' utr: (human) PMID:11719382|REF_RGD_ID:11100004 8909288 Bcl11a BCL11 transcription factor A gene DOID:9003071 Postaxial Polydactyly ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly PMID:25741868 8909288 Bcl11a BCL11 transcription factor A gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8909288 Bcl11a BCL11 transcription factor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8909288 Bcl11a BCL11 transcription factor A gene DOID:9005466 Language Development Disorders ISO RGD:1320527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27120335 8909288 Bcl11a BCL11 transcription factor A gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8909288 Bcl11a BCL11 transcription factor A gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:1320527 D RGD:7240710 20190315 OMIM 8909288 Bcl11a BCL11 transcription factor A gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin PMID:25741868|PMID:27453576|PMID:28891213|PMID:31474318|PMID:33116287 8909288 Bcl11a BCL11 transcription factor A gene DOID:9008086 Developmental Disabilities ISO RGD:1320527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741869 8909288 Bcl11a BCL11 transcription factor A gene DOID:9008582 Developmental Disease ISO RGD:1320527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8909297 Wipi1 WD repeat domain, phosphoinositide interacting 1 gene DOID:0080074 neural tube defect ISO RGD:1605986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 8909297 Wipi1 WD repeat domain, phosphoinositide interacting 1 gene DOID:13580 cholestasis ISO RGD:1605986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8909297 Wipi1 WD repeat domain, phosphoinositide interacting 1 gene DOID:630 genetic disease ISO RGD:1605986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909297 Wipi1 WD repeat domain, phosphoinositide interacting 1 gene DOID:9455 lipid storage disease ISO RGD:1605986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 8909317 Ogfrl1 opioid growth factor receptor like 1 gene DOID:630 genetic disease ISO RGD:1318300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909328 Slc25a53 solute carrier family 25 member 53 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8909328 Slc25a53 solute carrier family 25 member 53 gene DOID:12849 autistic disorder ISO RGD:1603463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8909328 Slc25a53 solute carrier family 25 member 53 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1603463 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 8909328 Slc25a53 solute carrier family 25 member 53 gene DOID:630 genetic disease ISO RGD:1603463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909367 Parpbp PARP1 binding protein gene DOID:630 genetic disease ISO RGD:1605996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909393 Tfdp1 transcription factor Dp-1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1346598 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 8909393 Tfdp1 transcription factor Dp-1 gene DOID:2222 factor X deficiency ISO RGD:1346598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8909393 Tfdp1 transcription factor Dp-1 gene DOID:630 genetic disease ISO RGD:1346598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909393 Tfdp1 transcription factor Dp-1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8909410 Chn1 chimerin 1 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 8909410 Chn1 chimerin 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732086 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8909410 Chn1 chimerin 1 gene DOID:12557 Duane retraction syndrome ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 8909410 Chn1 chimerin 1 gene DOID:13501 Moebius syndrome ISO RGD:732086 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 8909410 Chn1 chimerin 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25741868 8909410 Chn1 chimerin 1 gene DOID:630 genetic disease ISO RGD:732086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18653847 8909410 Chn1 chimerin 1 gene DOID:9003590 Duane Retraction Syndrome 2 ISO RGD:732086 D RGD:7240710 20200304 OMIM 8909410 Chn1 chimerin 1 gene DOID:9003590 Duane Retraction Syndrome 2 ISO RGD:732086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duane retraction syndrome 2 PMID:10577917|PMID:10942112|PMID:17197532|PMID:18653847|PMID:20535495|PMID:21555619|PMID:25741868|PMID:28492532 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:29945346|REF_RGD_ID:150429700 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type ISO RGD:1312254 D RGD:7240710 20180130 OMIM 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type ISO RGD:1312254 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome PMID:19110212|PMID:20223752|PMID:25741868|PMID:28492532|PMID:29904280|PMID:32381727|PMID:8434618|PMID:8818447 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer ameliorates ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:26934957|REF_RGD_ID:150429705 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:26934957|REF_RGD_ID:150429705 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer exacerbates ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:27010547|REF_RGD_ID:150429704 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:10534 stomach cancer severity ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:27010547|REF_RGD_ID:150429704 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:14018 alcoholic liver cirrhosis ameliorates ISO RGD:619855 D RGD:9068941 20211015 RGD PMID:23409069|REF_RGD_ID:150517731 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:14018 alcoholic liver cirrhosis disease_progression ISO RGD:619855 D RGD:9068941 20211001 RGD PMID:21199726|REF_RGD_ID:150429766 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:14330 Parkinson's disease treatment ISO RGD:1312255 D RGD:9068941 20220121 RGD PMID:28863860|REF_RGD_ID:150519888 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:18938156|PMID:22328973|PMID:23932362 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:1909 melanoma ameliorates ISO RGD:1312255 D RGD:9068941 20210924 RGD DNA:deletion:exons: PMID:24293323|REF_RGD_ID:150429711 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3355 fibrosarcoma ameliorates ISO RGD:1312255 D RGD:9068941 20210924 RGD DNA:deletion:exons: PMID:24293323|REF_RGD_ID:150429711 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3500 gallbladder adenocarcinoma disease_progression ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:29043607|REF_RGD_ID:150429712 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1312254 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:22328973|PMID:25741868|PMID:26206333|PMID:28492532 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:24885564|REF_RGD_ID:150429702 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1312254 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:18938156|PMID:22328973|PMID:23932362|PMID:26206333|PMID:28492532 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1312254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:24556606|REF_RGD_ID:150429746 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:5627 adenosquamous gallbladder carcinoma disease_progression ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:29043607|REF_RGD_ID:150429712 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:630 genetic disease ISO RGD:1312254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:65 connective tissue disease ISO RGD:1312254 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532|PMID:32381727 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:26362312|REF_RGD_ID:11086753 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1312254 D RGD:9068941 20210924 RGD PMID:33969575|REF_RGD_ID:150429748 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:686 liver carcinoma ameliorates ISO RGD:1312255 D RGD:9068941 20210924 RGD DNA:deletion:exons: PMID:24293323|REF_RGD_ID:150429711 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:8398 osteoarthritis disease_progression ISO RGD:1312254 D RGD:9068941 20211008 RGD PMID:24938620|REF_RGD_ID:150429973 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1312254 D RGD:9068941 20210917 RGD associated with oral squamous cell carcinoma PMID:29945346|REF_RGD_ID:150429700 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000662 Warburg-Cinotti Syndrome ISO RGD:1312254 D RGD:7240710 20200226 OMIM 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000662 Warburg-Cinotti Syndrome ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg-cinotti syndrome PMID:17103436|PMID:23637089|PMID:25741868|PMID:28492532|PMID:30449416 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1312255 D RGD:9068941 20210924 RGD associated with melanoma; PMID:24293323|REF_RGD_ID:150429711 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1312254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29216386 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9002331 Knee Osteoarthritis ameliorates ISO RGD:619855 D RGD:9068941 20211015 RGD PMID:31258642|REF_RGD_ID:150519887 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9002457 Experimental Arthritis ameliorates ISO RGD:1312255 D RGD:9068941 20211015 RGD PMID:24819400|REF_RGD_ID:150519886 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:619855 D RGD:9068941 20211008 RGD PMID:25975052|REF_RGD_ID:150429975 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1312254 D RGD:9068941 20210924 RGD associated with melanoma; PMID:21701781|REF_RGD_ID:150429713 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1312255 D RGD:9068941 20210917 RGD associated with colon carcinoma PMID:22071959|REF_RGD_ID:150429701 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9009121 lung metastasis exacerbates ISO RGD:1312254 D RGD:9068941 20210924 RGD associated with tongue squamous cell carcinoma; PMID:24556606|REF_RGD_ID:150429746 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312254 D RGD:9068941 20210917 RGD PMID:28476831|REF_RGD_ID:150429706 8909475 Ddr2 discoidin domain receptor tyrosine kinase 2 gene DOID:9261 nasopharynx carcinoma ISO RGD:1312254 D RGD:9068941 20210924 RGD mRNA:increased expression:epithelium of nasopharynx PMID:18023033|REF_RGD_ID:150429715 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:0050432 Asperger syndrome ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18197083 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:3714 D RGD:9068941 20240210 RGD mRNA:decreased expression:brain (rat) PMID:26180184|REF_RGD_ID:11074449 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:0050741 alcohol dependence disease_progression ISO RGD:732932 D RGD:9068941 20231109 RGD DNA:VNTR PMID:18552399|REF_RGD_ID:401900298 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:0050848 obstructive sleep apnea ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:promoter, intron (human) PMID:19014073|REF_RGD_ID:4889462 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:0050848 obstructive sleep apnea no_association ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:promoter, intron (human) PMID:15867649|REF_RGD_ID:4889466 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:0050848 obstructive sleep apnea no_association ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:16215942|REF_RGD_ID:4889463 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:0060001 withdrawal disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17000009 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:11314 D RGD:9068941 20220825 MouseDO 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:732932 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:0060131 alexithymia susceptibility ISO RGD:732932 D RGD:9068941 20200813 RGD associated with Chronic Hepatitis C;DNA:repeats:promoter: PMID:26609890|REF_RGD_ID:11352995 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:0080855 Parkinsonism ISO RGD:3714 D RGD:9068941 20200609 RGD PMID:20447560|REF_RGD_ID:4889474 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:0111253 neurofibromatosis 1 ISO RGD:732932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732932 D RGD:7240710 20180130 OMIM 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:10933 obsessive-compulsive disorder ISO RGD:732932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obsessive-compulsive disorder | ClinVar Annotator: match by term: Obsessive-compulsive disorder, susceptibility to | ClinVar Annotator: match by term: Serotonin transporter activity, increased/decreased PMID:11335745|PMID:11559314|PMID:11602621|PMID:11772685|PMID:12130784|PMID:12476327|PMID:12599191|PMID:12869649|PMID:12869766|PMID:12915525|PMID:12966525|PMID:14530202|PMID:14593431|PMID:14593433|PMID:14735161|PMID:15037864|PMID:15108187|PMID:15263905|PMID:15520364|PMID:15578606|PMID:15592465|PMID:15635638|PMID:15642926|PMID:15691525|PMID:15729746|PMID:15824745|PMID:15867107|PMID:15880108|PMID:15995945|PMID:16642437|PMID:17101915|PMID:19531786|PMID:25741868|PMID:7865169|PMID:8632190|PMID:8788073 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:732932 D RGD:9068941 20200806 RGD DNA:repeat:promoter: PMID:27430630|REF_RGD_ID:36947879 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:114 heart disease ISO RGD:11314 D RGD:9068941 20200609 RGD PMID:16380550|REF_RGD_ID:4889441 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:114 heart disease ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:insertion:promoter: (human) PMID:10381332|REF_RGD_ID:1580639 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:12206 dengue hemorrhagic fever severity ISO RGD:732932 D RGD:9068941 20200917 RGD DNA;polymorphism:5'utr: (rs25531) (human) PMID:30452889|REF_RGD_ID:38676265 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:12849 autistic disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16721604|PMID:17203304|PMID:17280648|PMID:20649385|PMID:9152989 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:12849 autistic disorder ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:11920155|REF_RGD_ID:9831148 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:12995 conduct disorder ISO RGD:732932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Behavior disorder PMID:12869649|PMID:14593431|PMID:15995945|PMID:18792946|PMID:18957375|PMID:19360675|PMID:19806148|PMID:28492532 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:14320 generalized anxiety disorder treatment ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats, haplotype:promoter: PMID:22907732|REF_RGD_ID:36947386 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16055263 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder no_association ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats:promoter: PMID:12872203|REF_RGD_ID:36947382 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder susceptibility ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:SNPs, haplotypes:multiple PMID:19844206|REF_RGD_ID:5684911 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:9068941 20200806 RGD DNA:hypomethylation:promoter: PMID:24679990|REF_RGD_ID:36947871 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:9068941 20200813 RGD DNA:repeats:promoter: PMID:15812265|PMID:27439447|REF_RGD_ID:36947384|REF_RGD_ID:38456009 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1470 major depressive disorder treatment ISO RGD:732932 D RGD:9068941 20201001 RGD DNA:repeats:promotor: PMID:12955294|REF_RGD_ID:39128240 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1510 personality disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17000009 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1561 cognitive disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23209555 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1574 alcohol use disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15520362|PMID:17000009 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:732932 D RGD:9068941 20200609 RGD protein:decreased activity: : PMID:20838391|REF_RGD_ID:6480660 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:3714 D RGD:9068941 20200609 RGD PMID:18295409|REF_RGD_ID:4889509 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12898347|PMID:18458677|PMID:18686203|PMID:21843009 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP: :rs3794808 (human) PMID:20981038|REF_RGD_ID:4889426 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:9068941 20200806 RGD DNA:hypomethylation:promoter PMID:20808944|REF_RGD_ID:36947395 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder ISO RGD:732932 D RGD:9068941 20200924 RGD associated with Chronic Hepatitis C; DNA:insertion/deletion:promoter: PMID:23571152|REF_RGD_ID:38676480 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder severity ISO RGD:732932 D RGD:9068941 20200730 RGD associated with Radiation Injuries;DNA:repeats:promoter: PMID:30582858|REF_RGD_ID:36947387 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder severity ISO RGD:732932 D RGD:9068941 20200806 RGD associated with breast cancer;DNA:repeat:promoter: PMID:22134442|REF_RGD_ID:36947877 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder susceptibility ISO RGD:732932 D RGD:9068941 20200813 RGD associated with Coronary Disease;DNA:repeats:promoter: PMID:23096047|REF_RGD_ID:38456010 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:1596 depressive disorder treatment ISO RGD:732932 D RGD:9068941 20200806 RGD DNA:repeat:promoter: PMID:20664233|REF_RGD_ID:36947869 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:2030 anxiety disorder ISO RGD:732932 D RGD:7240710 20180130 OMIM 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:2030 anxiety disorder ISO RGD:732932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Serotonin transporter activity, increased/decreased PMID:11335745|PMID:11559314|PMID:11602621|PMID:11772685|PMID:12130784|PMID:12476327|PMID:12599191|PMID:12869766|PMID:12915525|PMID:12966525|PMID:14530202|PMID:14593433|PMID:14735161|PMID:15037864|PMID:15108187|PMID:15263905|PMID:15520364|PMID:15578606|PMID:15592465|PMID:15635638|PMID:15642926|PMID:15691525|PMID:15729746|PMID:15824745|PMID:15867107|PMID:15880108|PMID:16642437|PMID:17101915|PMID:19531786|PMID:7865169|PMID:8632190|PMID:8788073 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:2841 asthma susceptibility ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:repeat:intron (human) PMID:19806585|REF_RGD_ID:4889460 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:302 substance abuse sexual_dimorphism ISO RGD:732932 D RGD:9068941 20240229 RGD DNA:SNP:promoter:: PMID:21140256|REF_RGD_ID:401976460 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:303 substance-related disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19272758 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:SNP: :rs2020936 (human) PMID:20981038|REF_RGD_ID:4889426 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:3312 bipolar disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11772685|PMID:16395126 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:3312 bipolar disorder ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats:promoter: PMID:10484962|REF_RGD_ID:36947381 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:3324 mood disorder ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878141 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3714 D RGD:9068941 20231130 RGD protein:increased expression:lung PMID:24888825|REF_RGD_ID:401901089 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:732932 D RGD:9068941 20200806 RGD associated with alcohol use disorder;DNA:deletion:promoter:-1212_-1255 (human) PMID:11236836|REF_RGD_ID:36947396 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:5154 borna disease ISO RGD:3714 D RGD:9068941 20200903 RGD protein:increased expression:brain (rat) PMID:12106671|REF_RGD_ID:38549588 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:5419 schizophrenia ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:5434 scrapie susceptibility ISO RGD:11314 D RGD:9068941 20200924 RGD PMID:16730863|REF_RGD_ID:38676483 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:6000 congestive heart failure ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:17307423|REF_RGD_ID:4889438 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:630 genetic disease ISO RGD:732932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:11314 D RGD:9068941 20200609 RGD associated with Anoxia PMID:19736308|REF_RGD_ID:4889432 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:3714 D RGD:9068941 20200609 RGD PMID:18074800|PMID:19473340|REF_RGD_ID:4889435|REF_RGD_ID:4889437 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:3714 D RGD:9068941 20200609 RGD associated with Anoxia PMID:11259539|REF_RGD_ID:4889445 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18506000 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:732932 D RGD:9068941 20200609 RGD PMID:19736308|REF_RGD_ID:4889432 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension ISO RGD:732932 D RGD:9068941 20200609 RGD associated with Heart Septal Defects, Ventricular;DNA:polymorphisms (human) PMID:19886858|REF_RGD_ID:4889430 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension no_association ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:promoter, intron (human) PMID:16399993|REF_RGD_ID:4889440 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension onset ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:16339917|REF_RGD_ID:4889442 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:6432 pulmonary hypertension severity ISO RGD:732932 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism (human) PMID:19556740|REF_RGD_ID:4889434 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:670 amphetamine abuse ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:7475 diverticulitis ISO RGD:732932 D RGD:9068941 20200903 RGD mRNA:decreased expression:colonic mucosa (human) PMID:18491196|REF_RGD_ID:38549586 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:8544 chronic fatigue syndrome ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats:promoter: PMID:14592408|REF_RGD_ID:36947383 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:8544 chronic fatigue syndrome ISO RGD:732932 D RGD:9068941 20200813 RGD protein:decreased expression:rostral anterior cingulate cortex (human) PMID:15570154|REF_RGD_ID:38500210 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:8544 chronic fatigue syndrome severity ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats, haplotype:promoter: PMID:26473596|REF_RGD_ID:11098915 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9001204 Dyspepsia ISO RGD:732932 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:22014438|REF_RGD_ID:6480658 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9001204 Dyspepsia susceptibility ISO RGD:732932 D RGD:9068941 20200917 RGD DNA:haplotypes, multiple: PMID:24720453|REF_RGD_ID:36947385 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:3714 D RGD:9068941 20240210 RGD mRNA:altered expression:hippocampus|hypothalamus (rat) PMID:26180184|REF_RGD_ID:11074449 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9002669 Hypoxia ISO RGD:3714 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:11259539|REF_RGD_ID:4889445 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9002953 Escherichia Coli Infections ISO RGD:11314 D RGD:9068941 20200730 RGD PMID:19747920|REF_RGD_ID:36947380 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:732932 D RGD:9068941 20200917 RGD associated with alexithymia;DNA:haplotypes, multiple: PMID:26609890|REF_RGD_ID:11352995 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9004086 AIDS Dementia Complex ISO RGD:11314 D RGD:9068941 20200917 RGD PMID:25404050|REF_RGD_ID:38676266 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11320258 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9005632 Cocaine-Related Disorders susceptibility ISO RGD:732932 D RGD:9068941 20200609 RGD protein:decreased activity: : PMID:20838391|REF_RGD_ID:6480660 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9007 sudden infant death syndrome ISO RGD:11314 D RGD:9068941 20220825 MouseDO OMIM:272120 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9007 sudden infant death syndrome ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12599191 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9007730 Burns ISO RGD:3714 D RGD:9068941 20200609 RGD PMID:17711618|REF_RGD_ID:4889516 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9008023 Memory Disorders ISO RGD:732932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18661256|PMID:18686203 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9008114 Helicobacter Infections ISO RGD:732932 D RGD:9068941 20200730 RGD DNA:repeats:promoter: PMID:24720453|REF_RGD_ID:36947385 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:11314 D RGD:9068941 20200924 RGD protein:decreased expression:colon (mouse) PMID:16548890|REF_RGD_ID:38676481 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9065 leishmaniasis ISO RGD:732932 D RGD:9068941 20200806 RGD lupoid leishmaniasis;protein:increased expression:skin of body (human) PMID:23989888|REF_RGD_ID:36947873 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:936 brain disease ISO RGD:732932 D RGD:9068941 20200903 RGD associated with hepatiis C;protein:increased binding:brain (human) PMID:21629258|REF_RGD_ID:38549583 8909495 Slc6a4 solute carrier family 6 member 4 gene DOID:9784 trichinosis ISO RGD:11314 D RGD:9068941 20200924 RGD protein:decreased expression:jejunum (mouse) PMID:16336502|REF_RGD_ID:38676482 8909523 Glt8d2 glycosyltransferase 8 domain containing 2 gene DOID:630 genetic disease ISO RGD:1353062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909523 Glt8d2 glycosyltransferase 8 domain containing 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1353062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:0060041 autism spectrum disorder ISO RGD:735878 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:10487 Hirschsprung's disease ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:21991983|REF_RGD_ID:5509847 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:10652 Alzheimer's disease ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22944069|PMID:23047022 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:10652 Alzheimer's disease ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:16581404|REF_RGD_ID:5509844 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:11054 urinary bladder cancer ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29644616 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:12858 Huntington's disease ISO RGD:735878 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:14330 Parkinson's disease ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:19474411|REF_RGD_ID:5509846 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:1826 epilepsy ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:7634486|REF_RGD_ID:5688133 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:2297 leptospirosis ISO RGD:69313 D RGD:9068941 20200609 RGD PMID:21921108|REF_RGD_ID:5688128 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:2355 anemia ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31170385 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:2377 multiple sclerosis ISO RGD:735878 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:2953866|REF_RGD_ID:5688127 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:437 myasthenia gravis ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:17986328|REF_RGD_ID:5509842 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:4450 renal cell carcinoma ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18482720 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:480 movement disease ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19628251 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:6088 acute stress disorder ISO RGD:69313 D RGD:9068941 20200609 RGD PMID:20645790|REF_RGD_ID:5509849 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:630 genetic disease ISO RGD:735878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:670 amphetamine abuse ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470869 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:863 nervous system disease ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22240983 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:8927 learning disability ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18533140 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9000046 Poisoning ISO RGD:69313 D RGD:9068941 20200609 RGD PMID:19453088|REF_RGD_ID:5688054 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9000046 Poisoning ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17098105 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9000495 Tremor ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27083141 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:69313 D RGD:9068941 20220617 RGD PMID:27491636|REF_RGD_ID:152995409 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16496349 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9002304 Prostatic Neoplasms ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20356562 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9005292 Organophosphate Poisoning ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:23000449|PMID:3669600|PMID:8359835 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69313 D RGD:9068941 20200609 RGD PMID:1385785|PMID:19296211|REF_RGD_ID:2312432|REF_RGD_ID:2312437 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69313 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:19303406|REF_RGD_ID:2312430 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69313 D RGD:9068941 20211015 RGD PMID:19347982|REF_RGD_ID:150517552 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9005930 Endotoxemia ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:17657467|REF_RGD_ID:5688055 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9006257 Growth Disorders ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22898132 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27083141 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9007023 Prenatal Injuries ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14657522 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9007096 Stroke disease_progression ISO RGD:735878 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20464061|REF_RGD_ID:5688131 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9008023 Memory Disorders ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18599028 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9008443 Colorectal Neoplasms ISO RGD:735878 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31004929 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9008939 Breast Neoplasms ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9120 amyloidosis ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23047022 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9470 bacterial meningitis ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:21303225|REF_RGD_ID:5688130 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9744 type 1 diabetes mellitus ISO RGD:735878 D RGD:9068941 20200609 RGD PMID:2658981|REF_RGD_ID:2312438 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9884 muscular dystrophy ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22906800 8909546 Ache acetylcholinesterase (Cartwright blood group) gene DOID:9970 obesity ISO RGD:735878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 8909575 Zkscan8 zinc finger with KRAB and SCAN domains 8 gene DOID:11372 megacolon ISO RGD:1319074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8909575 Zkscan8 zinc finger with KRAB and SCAN domains 8 gene DOID:630 genetic disease ISO RGD:1319074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:1353445 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:10283 prostate cancer ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:10808 gastric ulcer treatment ISO RGD:628826 D RGD:9068941 20200609 RGD PMID:16240224|REF_RGD_ID:7364759 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:10331 D RGD:9068941 20200609 RGD PMID:20309575|REF_RGD_ID:7364748 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:1793 pancreatic cancer ISO RGD:1353445 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:10209489|REF_RGD_ID:2325167 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:3030 mucinous adenocarcinoma ISO RGD:1353445 D RGD:9068941 20200609 RGD associated with bile duct neoplasms; protein:increased expression:bile duct PMID:15998373|REF_RGD_ID:2325166 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:1353445 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:10209489|REF_RGD_ID:2325167 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1353445 D RGD:9068941 20200609 RGD protein:decreased expression:gallbladder PMID:15260848|REF_RGD_ID:2324651 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:9000217 Stomach Neoplasms ISO RGD:1353445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1353445 D RGD:9068941 20200609 RGD associated with cholangiocarcinoma PMID:18410610|REF_RGD_ID:2325159 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1353445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8909585 Muc6 mucin 6, oligomeric mucus/gel-forming gene DOID:9008114 Helicobacter Infections ISO RGD:1353445 D RGD:9068941 20200609 RGD protein:increased expression:stomach epithelium PMID:15280409|REF_RGD_ID:7364760 8909623 Nudt6 nudix hydrolase 6 gene DOID:630 genetic disease ISO RGD:735257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909623 Nudt6 nudix hydrolase 6 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:735257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 8909623 Nudt6 nudix hydrolase 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12619036 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:11713 diabetic angiopathy ISO RGD:69038 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16306374|REF_RGD_ID:1625238 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:12236 primary biliary cholangitis ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:1612 breast cancer ISO RGD:69038 D RGD:9068941 20200609 RGD protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.001) PMID:10069662|REF_RGD_ID:2301715 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:1612 breast cancer no_association ISO RGD:69038 D RGD:9068941 20200609 RGD higher serum expression in cases vs controls but association not significant in multivariate analysis PMID:17287408|REF_RGD_ID:2301716 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:289 endometriosis ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:3021 acute kidney failure ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7540432 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:5082 liver cirrhosis ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:630 genetic disease ISO RGD:69038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69038 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16306374|REF_RGD_ID:1625238 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:9005930 Endotoxemia ISO RGD:2872 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:69038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 8909655 Igfbp1 insulin like growth factor binding protein 1 gene DOID:9007730 Burns ISO RGD:2872 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, liver PMID:10827012|REF_RGD_ID:12910869 8909667 Thnsl2 threonine synthase like 2 gene DOID:630 genetic disease ISO RGD:1605368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734345 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:0111698 proprotein convertase 1/3 deficiency ISO RGD:734345 D RGD:7240710 20240320 OMIM 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:0111698 proprotein convertase 1/3 deficiency ISO RGD:734345 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Obesity due to prohormone convertase I deficiency | ClinVar Annotator: match by term: PCSK1-related condition | ClinVar Annotator: match by term: Proprotein convertase 1/3 deficiency PMID:14617756|PMID:17595246|PMID:22210313|PMID:23383060|PMID:23562752|PMID:24041679|PMID:24135795|PMID:24932808|PMID:25272002|PMID:25741868|PMID:26786350|PMID:27187081|PMID:28377240|PMID:28492532|PMID:30383237|PMID:9207799 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:10603 glucose intolerance ISO RGD:734346 D RGD:9068941 20200609 RGD associated with Hyperinsulinemia, Aniridia; mRNA, protein:decreased expression:pancreatic islet (mouse) PMID:19034419|REF_RGD_ID:2308929 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:11832 visual epilepsy ISO RGD:3272 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus granule cell layer (rat) PMID:9015327|REF_RGD_ID:2308918 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:1459 hypothyroidism ISO RGD:3272 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus, hippocampus, cortex (rat) PMID:15291740|REF_RGD_ID:2308889 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:1459 hypothyroidism ISO RGD:3272 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus, lateral hypothalamic nucleus (rat) PMID:16926379|REF_RGD_ID:1600414 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:1799 islet cell tumor ISO RGD:3272 D RGD:9068941 20200609 RGD protein:increased expression:insulinoma (rat) PMID:7925129|REF_RGD_ID:2308920 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:28 endocrine system disease ISO RGD:734346 D RGD:9068941 20220825 MouseDO 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:4195 hyperglycemia ISO RGD:3272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein, mRNA:altered expression:pancreatic islet (rat) PMID:7883951|REF_RGD_ID:2308919 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:4195 hyperglycemia ISO RGD:3272 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:hepatocyte (rat) PMID:17131142|REF_RGD_ID:2308899 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:630 genetic disease ISO RGD:734345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:7998 hyperthyroidism ISO RGD:3272 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus, hippocampus, cortex (rat) PMID:15291740|REF_RGD_ID:2308889 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:7998 hyperthyroidism ISO RGD:3272 D RGD:9068941 20200609 RGD protein:decreased expression:paraventricular nucleus, median eminence (rat) PMID:16497799|REF_RGD_ID:1601276 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005372 Inflammation ISO RGD:3272 D RGD:9068941 20200609 RGD protein:increased expression:paw, leukocyte (rat) PMID:14630714|REF_RGD_ID:2308900 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3272 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen, spleen white pulp (rat) PMID:11730986|REF_RGD_ID:2308905 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spleen (mouse) PMID:11730986|REF_RGD_ID:2308905 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic alpha cell (mouse) PMID:17698597|REF_RGD_ID:2308931 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9005930 Endotoxemia ISO RGD:3272 D RGD:9068941 20200609 RGD PMID:16337011|REF_RGD_ID:6483567 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734345 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007633 Body Weight ISO RGD:734345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007661 Dwarfism ISO RGD:734346 D RGD:9068941 20200609 RGD PMID:12145326|REF_RGD_ID:737721 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9007993 Dehydration ISO RGD:3272 D RGD:9068941 20200609 RGD associated with Protein-Energy Malnutrition; protein:increased expression:pituitary (rat) PMID:12411741|REF_RGD_ID:2308904 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3272 D RGD:9068941 20200609 RGD PMID:17630003|REF_RGD_ID:2308898 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3272 D RGD:9068941 20200609 RGD protein:altered expression:pancreatic islet (rat) PMID:12475375|REF_RGD_ID:2298715 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet (mouse) PMID:18448419|REF_RGD_ID:2308932 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic alpha cell (mouse) PMID:18941442|REF_RGD_ID:2308930 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:734345 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.R53Q, p.Q638E (human) PMID:8666140|REF_RGD_ID:2308935 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:734346 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet (mouse) PMID:16938896|REF_RGD_ID:2308934 8909681 Pcsk1 proprotein convertase subtilisin/kexin type 1 gene DOID:9970 obesity ISO RGD:734345 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity PMID:25741868|PMID:28492532 8909699 Apba3 amyloid beta precursor protein binding family A member 3 gene DOID:13938 amenorrhea ISO RGD:737449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8909699 Apba3 amyloid beta precursor protein binding family A member 3 gene DOID:630 genetic disease ISO RGD:737449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909720 Itga6 integrin subunit alpha 6 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731429 D RGD:7240710 20180130 OMIM 8909720 Itga6 integrin subunit alpha 6 gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731429 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:14675179|PMID:23496044|PMID:25741868|PMID:27607025|PMID:28492532|PMID:9158140|PMID:9185503|PMID:9804362 8909720 Itga6 integrin subunit alpha 6 gene DOID:0060737 junctional epidermolysis bullosa Herlitz type ISO RGD:731430 D RGD:9068941 20220825 MouseDO OMIM:226700 8909720 Itga6 integrin subunit alpha 6 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:731429 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8909720 Itga6 integrin subunit alpha 6 gene DOID:3209 junctional epidermolysis bullosa ISO RGD:731429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:21357940|PMID:25741868 8909720 Itga6 integrin subunit alpha 6 gene DOID:630 genetic disease ISO RGD:731429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8909720 Itga6 integrin subunit alpha 6 gene DOID:7148 rheumatoid arthritis ISO RGD:731429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 8909720 Itga6 integrin subunit alpha 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:621633 D RGD:9068941 20200609 RGD PMID:13130099|REF_RGD_ID:1302259 8909756 Sema7a semaphorin 7A (JohnMiltonHagen blood group) gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8909756 Sema7a semaphorin 7A (JohnMiltonHagen blood group) gene DOID:2717 Bloom syndrome ISO RGD:1313074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8909756 Sema7a semaphorin 7A (JohnMiltonHagen blood group) gene DOID:5419 schizophrenia ISO RGD:1313074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8909756 Sema7a semaphorin 7A (JohnMiltonHagen blood group) gene DOID:630 genetic disease ISO RGD:1313074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909756 Sema7a semaphorin 7A (JohnMiltonHagen blood group) gene DOID:9008279 Progressive Familial Intrahepatic Cholestasis 11 ISO RGD:1313074 D RGD:7240710 20220518 OMIM 8909756 Sema7a semaphorin 7A (JohnMiltonHagen blood group) gene DOID:9008279 Progressive Familial Intrahepatic Cholestasis 11 ISO RGD:1313074 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 11 PMID:34585848 8909756 Sema7a semaphorin 7A (JohnMiltonHagen blood group) gene DOID:9256 colorectal cancer ISO RGD:1313074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8909775 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8909775 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318867 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8909775 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1318867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8909775 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1318867 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastric adenocarcinoma (human) PMID:23007704|REF_RGD_ID:9854641 8909775 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:630 genetic disease ISO RGD:1318867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909775 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8909775 Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318867 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8909781 Gabpa GA binding protein transcription factor subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:1321915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:22491860|PMID:24691562|PMID:25741868|PMID:28492532 8909781 Gabpa GA binding protein transcription factor subunit alpha gene DOID:630 genetic disease ISO RGD:1321915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909781 Gabpa GA binding protein transcription factor subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8909781 Gabpa GA binding protein transcription factor subunit alpha gene DOID:9005393 Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy ISO RGD:1321915 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy PMID:16369530|PMID:19047566 8909797 Kcna4 potassium voltage-gated channel subfamily A member 4 gene DOID:1059 intellectual disability ISO RGD:731771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8909797 Kcna4 potassium voltage-gated channel subfamily A member 4 gene DOID:630 genetic disease ISO RGD:731771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909797 Kcna4 potassium voltage-gated channel subfamily A member 4 gene DOID:9003021 Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum ISO RGD:731771 D RGD:7240710 20190315 OMIM 8909797 Kcna4 potassium voltage-gated channel subfamily A member 4 gene DOID:9003021 Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum ISO RGD:731771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum PMID:23181898|PMID:25741868|PMID:27582084 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1602218 D RGD:9068941 20200609 RGD PMID:30205384|REF_RGD_ID:18337270 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1602218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1602218 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1602218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:0080600 COVID-19 ISO RGD:1602218 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:10283 prostate cancer ISO RGD:1602218 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prostate gland PMID:25003983|REF_RGD_ID:18337280 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1602218 D RGD:9068941 20200609 RGD PMID:31762801|REF_RGD_ID:18337271 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:10844 Japanese encephalitis ISO RGD:1614375 D RGD:9068941 20200609 RGD PMID:17010311|REF_RGD_ID:18337278 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:11260 rabies ISO RGD:1614375 D RGD:9068941 20200609 RGD PMID:17010311|REF_RGD_ID:18337278 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:1574 alcohol use disorder ISO RGD:1614375 D RGD:9068941 20200609 RGD mRNA:increased expression:prefrontal cortex PMID:28714806|REF_RGD_ID:18337277 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1602218 D RGD:9068941 20200609 RGD PMID:26175272|REF_RGD_ID:18337279 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:1602218 D RGD:9068941 20200609 RGD PMID:25003983|REF_RGD_ID:18337280 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1602218 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid gland PMID:23569218|REF_RGD_ID:18337285 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:4001 ovarian carcinoma treatment ISO RGD:1602218 D RGD:9068941 20200609 RGD PMID:26910918|REF_RGD_ID:18337281 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1602218 D RGD:9068941 20200609 RGD PMID:23651211|REF_RGD_ID:18337283 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1602218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8909802 Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1602218 D RGD:9068941 20200609 RGD associated with colon cancer PMID:22020760|REF_RGD_ID:15097511 8909809 Prdm10 PR/SET domain 10 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1348926 D RGD:7240710 20230802 OMIM 8909809 Prdm10 PR/SET domain 10 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1348926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8909809 Prdm10 PR/SET domain 10 gene DOID:5419 schizophrenia ISO RGD:1348926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8909809 Prdm10 PR/SET domain 10 gene DOID:630 genetic disease ISO RGD:1348926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909809 Prdm10 PR/SET domain 10 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8909809 Prdm10 PR/SET domain 10 gene DOID:9007661 Dwarfism ISO RGD:1348926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8909842 Itgb5 integrin subunit beta 5 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1349145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8909842 Itgb5 integrin subunit beta 5 gene DOID:50 thyroid gland disease ISO RGD:1349145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 8909842 Itgb5 integrin subunit beta 5 gene DOID:630 genetic disease ISO RGD:1349145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909842 Itgb5 integrin subunit beta 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8909842 Itgb5 integrin subunit beta 5 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1349145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 8909842 Itgb5 integrin subunit beta 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8909842 Itgb5 integrin subunit beta 5 gene DOID:9270 alkaptonuria ISO RGD:1349145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8909865 Pitpnb phosphatidylinositol transfer protein beta gene DOID:630 genetic disease ISO RGD:736239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909883 Scaf8 SR-related CTD associated factor 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1342919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8909883 Scaf8 SR-related CTD associated factor 8 gene DOID:630 genetic disease ISO RGD:1342919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909928 Rnf187 ring finger protein 187 gene DOID:1540 parathyroid carcinoma ISO RGD:1606704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8909928 Rnf187 ring finger protein 187 gene DOID:630 genetic disease ISO RGD:1606704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8909928 Rnf187 ring finger protein 187 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8909936 Oplah 5-oxoprolinase, ATP-hydrolysing gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:733077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:25741868 8909936 Oplah 5-oxoprolinase, ATP-hydrolysing gene DOID:0080600 COVID-19 ISO RGD:733077 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8909936 Oplah 5-oxoprolinase, ATP-hydrolysing gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:733077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8909936 Oplah 5-oxoprolinase, ATP-hydrolysing gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:733077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8909936 Oplah 5-oxoprolinase, ATP-hydrolysing gene DOID:4621 holoprosencephaly ISO RGD:733077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8909936 Oplah 5-oxoprolinase, ATP-hydrolysing gene DOID:630 genetic disease ISO RGD:733077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8909936 Oplah 5-oxoprolinase, ATP-hydrolysing gene DOID:9006099 5-Oxoprolinase Deficiency ISO RGD:733077 D RGD:7240710 20180130 OMIM 8909936 Oplah 5-oxoprolinase, ATP-hydrolysing gene DOID:9006099 5-Oxoprolinase Deficiency ISO RGD:733077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 5-Oxoprolinase deficiency PMID:16199547|PMID:17576681|PMID:21651516|PMID:23430506|PMID:25741868|PMID:27477828|PMID:28492532|PMID:9536098 8909936 Oplah 5-oxoprolinase, ATP-hydrolysing gene DOID:9006253 Ketosis ISO RGD:733077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ketosis PMID:25741868 8909982 Cd164 CD164 molecule gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:736961 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8909982 Cd164 CD164 molecule gene DOID:0110587 autosomal dominant nonsyndromic deafness 66 ISO RGD:736961 D RGD:7240710 20190315 OMIM 8909982 Cd164 CD164 molecule gene DOID:0110587 autosomal dominant nonsyndromic deafness 66 ISO RGD:736961 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 PMID:25741868|PMID:26197441 8909982 Cd164 CD164 molecule gene DOID:1324 lung cancer exacerbates ISO RGD:736961 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:28903328|REF_RGD_ID:11555304 8909982 Cd164 CD164 molecule gene DOID:630 genetic disease ISO RGD:736961 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8909982 Cd164 CD164 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:736961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8910008 Hspa12a heat shock protein family A (Hsp70) member 12A gene DOID:303 substance-related disorder ISO RGD:1313610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8910008 Hspa12a heat shock protein family A (Hsp70) member 12A gene DOID:630 genetic disease ISO RGD:1313610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910050 Orc3 origin recognition complex subunit 3 gene DOID:630 genetic disease ISO RGD:1318236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910084 Vwa8 von Willebrand factor A domain containing 8 gene DOID:0050567 orofacial cleft ISO RGD:1604630 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip palate PMID:25741868|PMID:27229527 8910084 Vwa8 von Willebrand factor A domain containing 8 gene DOID:12849 autistic disorder ISO RGD:1604630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 8910084 Vwa8 von Willebrand factor A domain containing 8 gene DOID:630 genetic disease ISO RGD:1604630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910084 Vwa8 von Willebrand factor A domain containing 8 gene DOID:9005533 RETINITIS PIGMENTOSA 97 ISO RGD:1604630 D RGD:7240710 20230726 OMIM 8910084 Vwa8 von Willebrand factor A domain containing 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1604630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:34660594|PMID:36937954 8910135 Lgals12 galectin 12 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8910135 Lgals12 galectin 12 gene DOID:1059 intellectual disability ISO RGD:1315798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8910135 Lgals12 galectin 12 gene DOID:630 genetic disease ISO RGD:1315798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910150 LOC102029492 uncharacterized LOC102029492 gene DOID:630 genetic disease ISO RGD:16571318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910161 Fdx2 ferredoxin 2 gene DOID:630 genetic disease ISO RGD:1604250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28803783 8910161 Fdx2 ferredoxin 2 gene DOID:699 mitochondrial myopathy ISO RGD:1604250 D RGD:7240710 20190424 OMIM 8910161 Fdx2 ferredoxin 2 gene DOID:699 mitochondrial myopathy ISO RGD:1604250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:24281368|PMID:25741868|PMID:28492532|PMID:30010796 8910161 Fdx2 ferredoxin 2 gene DOID:9009081 Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy ISO RGD:1604250 D RGD:7240710 20190424 OMIM 8910161 Fdx2 ferredoxin 2 gene DOID:9009081 Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy ISO RGD:1604250 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY | ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy PMID:24281368|PMID:25741868|PMID:28492532 8910177 Mapkapk5 MAPK activated protein kinase 5 gene DOID:630 genetic disease ISO RGD:1354160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910177 Mapkapk5 MAPK activated protein kinase 5 gene DOID:9004830 NEUROCARDIOFACIODIGITAL SYNDROME ISO RGD:1354160 D RGD:7240710 20220629 OMIM 8910177 Mapkapk5 MAPK activated protein kinase 5 gene DOID:9004830 NEUROCARDIOFACIODIGITAL SYNDROME ISO RGD:1354160 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Neurocardiofaciodigital syndrome PMID:25741868|PMID:33442026|PMID:35575217|PMID:36581449 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:0050753 cerebellar ataxia ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:0050952 spastic ataxia ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:0111565 trichodontoosseous syndrome ISO RGD:68989 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:0111742 cerebellar ataxia type 42 ISO RGD:68989 D RGD:7240710 20190315 OMIM 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:0111742 cerebellar ataxia type 42 ISO RGD:68989 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 42 PMID:25741868|PMID:26456284|PMID:26715324|PMID:28490766|PMID:28492532|PMID:29629410|PMID:29878067|PMID:32736238|PMID:32860008|PMID:32878331 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:1059 intellectual disability ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:1826 epilepsy ISO RGD:68989 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:630 genetic disease ISO RGD:68989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29878067|PMID:32736238|PMID:32878331 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:68989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68989 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:29878067 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68942 D RGD:9068941 20200609 RGD mRNA:increased expression:ventricle (rat) PMID:14615287|REF_RGD_ID:2316207 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9006956 nephrotoxicity treatment ISO RGD:68942 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9008582 Developmental Disease ISO RGD:68989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9009231 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits ISO RGD:68989 D RGD:7240710 20190315 OMIM 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:9009231 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits ISO RGD:68989 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CACNA1G-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits PMID:25741868|PMID:28492532|PMID:29878067|PMID:30792901|PMID:31217264|PMID:31836334|PMID:34248568 8910197 Cacna1g calcium voltage-gated channel subunit alpha1 G gene DOID:936 brain disease ISO RGD:68989 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0070004 myeloid neoplasm ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:19360458|REF_RGD_ID:11040460 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1323334 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0081097 Rafiq syndrome ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0111044 gray platelet syndrome ISO RGD:1323334 D RGD:9068941 20200609 RGD DNA:nonsense mutation:c.859C>T, p.Gln287X(human) PMID:24325358|REF_RGD_ID:11040508 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0111049 platelet-type bleeding disorder 17 ISO RGD:1323334 D RGD:7240710 20190320 OMIM 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:0111049 platelet-type bleeding disorder 17 ISO RGD:1323334 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 17 PMID:1065298|PMID:20861919|PMID:23927492|PMID:24325358|PMID:25741868|PMID:28041820|PMID:30573501|PMID:31064749|PMID:34355501|PMID:5681484 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:12449 aplastic anemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow cell: PMID:17156408|REF_RGD_ID:11040507 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:1588 thrombocytopenia ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:31064749 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:2213 hemorrhagic disease ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:2223 platelet storage pool deficiency ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Storage pool disease of platelets PMID:25741868 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:3652 Leigh disease ISO RGD:1323334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:630 genetic disease ISO RGD:1323334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow cell: PMID:17156408|REF_RGD_ID:11040507 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:9000647 Acute Erythroleukemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow cell: PMID:17156408|REF_RGD_ID:11040507 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:9002867 Myeloid Leukemia, Chronic-Phase ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:19360458|REF_RGD_ID:11040460 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323334 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:9119 acute myeloid leukemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow cell: PMID:17156408|REF_RGD_ID:11040507 8910300 Gfi1b growth factor independent 1B transcriptional repressor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1323334 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:19360458|REF_RGD_ID:11040460 8910323 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8910323 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1602702 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 8910323 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8910323 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8910323 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8910323 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8910323 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:5812 MHC class II deficiency ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8910323 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:630 genetic disease ISO RGD:1602702 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28544275|PMID:29339779|PMID:31463572|PMID:31607746|PMID:33222031 8910323 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:9007424 Mitochondrial Myopathy, and Ataxia ISO RGD:1602702 D RGD:7240710 20190315 OMIM 8910323 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:9007424 Mitochondrial Myopathy, and Ataxia ISO RGD:1602702 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: MSTO1-related disorder | ClinVar Annotator: match by term: MYOPATHY, MITOCHONDRIAL, AND ATAXIA PMID:25741868|PMID:28492532|PMID:28544275|PMID:28554942|PMID:29339779|PMID:30684668|PMID:31463572|PMID:31607746|PMID:33222031|PMID:37431817 8910323 Msto1 misato mitochondrial distribution and morphology regulator 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8910358 Mdn1 midasin AAA ATPase 1 gene DOID:2843 long QT syndrome ISO RGD:1314985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8910358 Mdn1 midasin AAA ATPase 1 gene DOID:630 genetic disease ISO RGD:1314985 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18850583 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1607086 D RGD:9068941 20220324 RGD protein:increased expression:mucosa of oral region (human) PMID:24743017|REF_RGD_ID:151665336 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:0050902 medulloblastoma ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:0080365 endometrial hyperplasia ISO RGD:1607086 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium PMID:16080017|REF_RGD_ID:2315043 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:19450994|REF_RGD_ID:2315029 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:10286 prostate carcinoma ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:12670908|REF_RGD_ID:2315046 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18451165 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:1612 breast cancer ISO RGD:1607086 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19350629|REF_RGD_ID:2315035 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15351619|REF_RGD_ID:2315044 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:18922157|REF_RGD_ID:2315038 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1607086 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:12107105|REF_RGD_ID:13825152 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:630 genetic disease ISO RGD:1607086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1562456 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19533683|REF_RGD_ID:2315050 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12717389 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1607086 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:19094580|REF_RGD_ID:2315036 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1607086 D RGD:9068941 20200609 RGD associated with Endometrial Neoplasms;protein:increased expression:endometrium PMID:16080017|REF_RGD_ID:2315043 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:9000998 Brain Injuries ISO RGD:1562456 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19852587|REF_RGD_ID:2315049 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1607086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19636294 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:16525656|REF_RGD_ID:2315042 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1607086 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:uterine cervix PMID:18559093|REF_RGD_ID:2302384 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:1607086 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:19094580|REF_RGD_ID:2315036 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:9005882 Spine Osteoarthritis ISO RGD:1607086 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34697729 8910470 Skp2 S-phase kinase associated protein 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1607086 D RGD:9068941 20200609 RGD PMID:15220466|REF_RGD_ID:2315045 8910490 Gtf2f1 general transcription factor IIF subunit 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1343690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8910490 Gtf2f1 general transcription factor IIF subunit 1 gene DOID:630 genetic disease ISO RGD:1343690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910507 Sash3 SAM and SH3 domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8910507 Sash3 SAM and SH3 domain containing 3 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1353862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:22796527|PMID:24357419|PMID:28492532 8910507 Sash3 SAM and SH3 domain containing 3 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1353862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 8910507 Sash3 SAM and SH3 domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1353862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8910507 Sash3 SAM and SH3 domain containing 3 gene DOID:630 genetic disease ISO RGD:1353862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910507 Sash3 SAM and SH3 domain containing 3 gene DOID:9000339 Immunodeficiency 102 ISO RGD:1353862 D RGD:7240710 20220608 OMIM 8910507 Sash3 SAM and SH3 domain containing 3 gene DOID:9000339 Immunodeficiency 102 ISO RGD:1353862 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Immunodeficiency 102 PMID:33876203|PMID:35464398 8910507 Sash3 SAM and SH3 domain containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8910531 Agbl3 AGBL carboxypeptidase 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8910531 Agbl3 AGBL carboxypeptidase 3 gene DOID:630 genetic disease ISO RGD:1604170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910553 Zcchc12 zinc finger CCHC-type containing 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8910553 Zcchc12 zinc finger CCHC-type containing 12 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1342670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8910553 Zcchc12 zinc finger CCHC-type containing 12 gene DOID:12849 autistic disorder ISO RGD:1342670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8910553 Zcchc12 zinc finger CCHC-type containing 12 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1342670 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 8910553 Zcchc12 zinc finger CCHC-type containing 12 gene DOID:630 genetic disease ISO RGD:1342670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910558 Gpsm3 G protein signaling modulator 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1343729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8910558 Gpsm3 G protein signaling modulator 3 gene DOID:630 genetic disease ISO RGD:1343729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910566 Pgd phosphogluconate dehydrogenase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8910566 Pgd phosphogluconate dehydrogenase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1343939 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8910566 Pgd phosphogluconate dehydrogenase gene DOID:0080600 COVID-19 ISO RGD:1343939 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8910566 Pgd phosphogluconate dehydrogenase gene DOID:0111936 immunodeficiency 14 ISO RGD:1343939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8910566 Pgd phosphogluconate dehydrogenase gene DOID:630 genetic disease ISO RGD:1343939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910566 Pgd phosphogluconate dehydrogenase gene DOID:684 hepatocellular carcinoma ISO RGD:1343939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 8910583 Ism2 isthmin 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1603577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 8910583 Ism2 isthmin 2 gene DOID:630 genetic disease ISO RGD:1603577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910607 Atp6v0e2 ATPase H+ transporting V0 subunit e2 gene DOID:630 genetic disease ISO RGD:1606137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910622 Rnasel ribonuclease L gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8910622 Rnasel ribonuclease L gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:15670795|REF_RGD_ID:40902819 8910622 Rnasel ribonuclease L gene DOID:10283 prostate cancer ISO RGD:1346643 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer, susceptibility to PMID:11799394|PMID:12415269|PMID:16609730|PMID:25741868|PMID:28492532 8910622 Rnasel ribonuclease L gene DOID:1540 parathyroid carcinoma ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8910622 Rnasel ribonuclease L gene DOID:1612 breast cancer no_association ISO RGD:1346643 D RGD:9068941 20200609 RGD DNA:substitution:G1385A PMID:15330212|REF_RGD_ID:2291997 8910622 Rnasel ribonuclease L gene DOID:2043 hepatitis B ISO RGD:1553469 D RGD:9068941 20201218 RGD PMID:11861827|REF_RGD_ID:40902828 8910622 Rnasel ribonuclease L gene DOID:234 colon adenocarcinoma severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:23567782|REF_RGD_ID:40902808 8910622 Rnasel ribonuclease L gene DOID:2365 West Nile encephalitis disease_progression ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:16809306|REF_RGD_ID:40902815 8910622 Rnasel ribonuclease L gene DOID:2394 ovarian cancer ISO RGD:1346643 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8910622 Rnasel ribonuclease L gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:23913960|REF_RGD_ID:40902622 8910622 Rnasel ribonuclease L gene DOID:3298 vaccinia severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:11967338|REF_RGD_ID:40902818 8910622 Rnasel ribonuclease L gene DOID:3298 vaccinia susceptibility ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:20943971|REF_RGD_ID:40902816 8910622 Rnasel ribonuclease L gene DOID:3883 Lynch syndrome onset ISO RGD:1346643 D RGD:9068941 20200609 RGD DNA:substitution:cds:amino acid R462G PMID:16054567|REF_RGD_ID:2292000 8910622 Rnasel ribonuclease L gene DOID:630 genetic disease ISO RGD:1346643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910622 Rnasel ribonuclease L gene DOID:7427 anthrax disease severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:19075243|REF_RGD_ID:40902812 8910622 Rnasel ribonuclease L gene DOID:8469 influenza ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:23913960|REF_RGD_ID:40902622 8910622 Rnasel ribonuclease L gene DOID:8704 genital herpes severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:17157346|REF_RGD_ID:40902623 8910622 Rnasel ribonuclease L gene DOID:9000099 Experimental Colitis severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:23567782|REF_RGD_ID:40902808 8910622 Rnasel ribonuclease L gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8910622 Rnasel ribonuclease L gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16114055|PMID:17020975|PMID:27318894 8910622 Rnasel ribonuclease L gene DOID:9002953 Escherichia Coli Infections severity ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:19075243|REF_RGD_ID:40902812 8910622 Rnasel ribonuclease L gene DOID:9004531 Cardiovirus Infections ISO RGD:1553469 D RGD:9068941 20201211 RGD PMID:21636578|REF_RGD_ID:40902809 8910622 Rnasel ribonuclease L gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1346643 D RGD:7240710 20190213 OMIM 8910622 Rnasel ribonuclease L gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1346643 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:11799394|PMID:12415269|PMID:16609730|PMID:25741868|PMID:28492532 8910622 Rnasel ribonuclease L gene DOID:9005539 Familial Prostate Cancer ISO RGD:1346643 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8910622 Rnasel ribonuclease L gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome ISO RGD:1553469 D RGD:9068941 20201211 RGD associated with Arterivirus Infections PMID:23725696|REF_RGD_ID:40902617 8910622 Rnasel ribonuclease L gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8910622 Rnasel ribonuclease L gene DOID:9007899 Animal Viral Hepatitis ISO RGD:1553469 D RGD:9068941 20201211 RGD associated with Middle East respiratory syndrome PMID:27025250|REF_RGD_ID:40902807 8910622 Rnasel ribonuclease L gene DOID:9007899 Animal Viral Hepatitis disease_progression ISO RGD:1553469 D RGD:9068941 20201211 RGD associated with Coronaviridae Infections PMID:28003490|REF_RGD_ID:40902624 8910622 Rnasel ribonuclease L gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8910633 Eipr1 EARP complex and GARP complex interacting protein 1 gene DOID:303 substance-related disorder ISO RGD:1314080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1353461 D RGD:7240710 20180418 OMIM 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1353461 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:17507419|PMID:20301779|PMID:24033266|PMID:25741868|PMID:28492532 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1353461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1353461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:2717 Bloom syndrome ISO RGD:1353461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:2729 dyskeratosis congenita ISO RGD:1353461 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:24033266|PMID:25741868|PMID:28492532 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:9002616 Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 ISO RGD:1353461 D RGD:7240710 20230712 OMIM 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:9002616 Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 ISO RGD:1353461 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 PMID:32554502 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1353461 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive PMID:25741868 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353461 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:9008756 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9 ISO RGD:1353461 D RGD:7240710 20230607 OMIM 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:9008756 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9 ISO RGD:1353461 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 PMID:32139460 8910650 Nop10 NOP10 ribonucleoprotein gene DOID:9256 colorectal cancer ISO RGD:1353461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8910656 Ndc80 NDC80 kinetochore complex component gene DOID:10534 stomach cancer ISO RGD:1320890 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:19878654|REF_RGD_ID:28867241 8910656 Ndc80 NDC80 kinetochore complex component gene DOID:1059 intellectual disability ISO RGD:1320890 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8910656 Ndc80 NDC80 kinetochore complex component gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320890 D RGD:9068941 20200609 RGD PMID:17079454|REF_RGD_ID:28867236 8910656 Ndc80 NDC80 kinetochore complex component gene DOID:630 genetic disease ISO RGD:1320890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910656 Ndc80 NDC80 kinetochore complex component gene DOID:684 hepatocellular carcinoma ISO RGD:1320890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8910656 Ndc80 NDC80 kinetochore complex component gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1320890 D RGD:9068941 20201203 RGD associated with melanoma PMID:31173190|REF_RGD_ID:40822820 8910656 Ndc80 NDC80 kinetochore complex component gene DOID:9256 colorectal cancer ISO RGD:1320890 D RGD:9068941 20200609 RGD mRNA:increased expression:colorectum PMID:19878654|REF_RGD_ID:28867241 8910682 Nup153 nucleoporin 153 gene DOID:630 genetic disease ISO RGD:731840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910682 Nup153 nucleoporin 153 gene DOID:9007098 Pulmonary Atresia ISO RGD:731840 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 8910733 COL4A1 collagen type IV alpha 1 chain gene DOID:13223 uterine fibroid ISO RGD:1316170 D RGD:9068941 20231102 RGD mRNA:increased expression:uterus (human) PMID:23818951|REF_RGD_ID:401851920 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1316171 D RGD:9068941 20220825 MouseDO OMIM:236670 | OMIM:253280 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:0060263 porencephaly ISO RGD:1316170 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Porencephaly PMID:25741868 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:0060648 anterior segment dysgenesis ISO RGD:1316170 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:17078022|PMID:19344236|PMID:25590979|PMID:25741868|PMID:28492532|PMID:30181649|PMID:32499604|PMID:7695699|PMID:8218237|PMID:9016532 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:0060673 Peters anomaly ISO RGD:1316170 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:0080205 CAKUT ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532|PMID:31230195 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1316170 D RGD:7240710 20240306 OMIM 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT PMID:10713126|PMID:10896941|PMID:12011424|PMID:15023374|PMID:15136694|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19194877|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:2211826|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24088041|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25457163|PMID:25719457|PMID:25741868|PMID:25741869|PMID:26310487|PMID:26362372|PMID:26467025|PMID:26633545|PMID:28017902|PMID:28369186|PMID:28492532|PMID:29602769|PMID:29927466|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32042920|PMID:32488064|PMID:32515830|PMID:32732225|PMID:32818659|PMID:33298904|PMID:33353976|PMID:33527515|PMID:34906502|PMID:3691802|PMID:6428250|PMID:7257746|PMID:7695699|PMID:8218237|PMID:9016532|PMID:906807|PMID:9536098|PMID:9724608 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1316170 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage PMID:10713126|PMID:10896941|PMID:12011424|PMID:15023374|PMID:15136694|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19194877|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:2211826|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24088041|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25457163|PMID:25590979|PMID:25706114|PMID:25719457|PMID:25741868|PMID:25741869|PMID:26310487|PMID:26362372|PMID:26467025|PMID:26633545|PMID:28017902|PMID:28369186|PMID:28492532|PMID:29602769|PMID:29927466|PMID:30087447|PMID:30181649|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32042920|PMID:32488064|PMID:32499604|PMID:32515830|PMID:32732225|PMID:32818659|PMID:33298904|PMID:33353976|PMID:33527515|PMID:34906502|PMID:3691802|PMID:6428250|PMID:7257746|PMID:7695699|PMID:8218237|PMID:9016532|PMID:906807|PMID:9536098|PMID:9724608 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:0111547 retinal arterial tortuosity ISO RGD:1316170 D RGD:7240710 20240306 OMIM 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:0111547 retinal arterial tortuosity ISO RGD:1316170 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of PMID:16199547|PMID:17078022|PMID:17576681|PMID:19344236|PMID:20818663|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25228067|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:28492532|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:0112313 brain small vessel disease ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16598045|PMID:17696175 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:0112314 brain small vessel disease 2 ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porencephaly 2 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:10126 keratoconus ISO RGD:1316170 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Keratoconus 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:10907 microcephaly ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:1184 nephrotic syndrome ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1281619 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423|PMID:18682491 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17696175|PMID:20385946 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:1826 epilepsy ISO RGD:1316170 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:1969 cerebral palsy ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:2222 factor X deficiency ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:557 kidney disease ISO RGD:1316171 D RGD:9068941 20220825 MouseDO 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:583 hemolytic anemia ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23225343 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:5844 myocardial infarction susceptibility ISO RGD:1316170 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q1334H (human) PMID:18077766|REF_RGD_ID:2311341 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1316170 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10713126|PMID:10896941|PMID:12011424|PMID:12525718|PMID:15882279|PMID:15905400|PMID:16107487|PMID:16374828|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18160688|PMID:19194877|PMID:19344236|PMID:19840616|PMID:19949034|PMID:21625620|PMID:2211826|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23394911|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26220970|PMID:26467025|PMID:28492532|PMID:29801666|PMID:31051113|PMID:31230195|PMID:33353976|PMID:33527515|PMID:3691802|PMID:6428250|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:6432 pulmonary hypertension treatment ISO RGD:1307148 D RGD:9068941 20200609 RGD PMID:25867313|REF_RGD_ID:11041577 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:784 chronic kidney disease ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:83 cataract ISO RGD:1316170 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:17696175|PMID:20301768|PMID:25741868 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:8725 vascular dementia ISO RGD:1316170 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848|PMID:35307828 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1316170 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intraventricular hemorrhage PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491|PMID:27997345 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316171 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17582205|REF_RGD_ID:2311342 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316171 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA:increased expression:kidney PMID:19466391|REF_RGD_ID:2311340 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9002417 Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant ISO RGD:1316170 D RGD:7240710 20240306 OMIM 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9002417 Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant ISO RGD:1316170 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE | ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant PMID:15221337|PMID:16199547|PMID:17078022|PMID:17576681|PMID:19344236|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25425218|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:27666438|PMID:28369186|PMID:28492532|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:906807|PMID:9536098|PMID:9724608 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316170 D RGD:7240710 20240306 OMIM 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316170 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to PMID:16159887|PMID:16199547|PMID:17078022|PMID:17576681|PMID:19344236|PMID:21625620|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:28492532|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9002704 Leukoencephalopathies ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20385946 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9003104 Intracranial Hemorrhages ISO RGD:1316170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intracranial Hemorrhages PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9003443 Central Nervous System Vascular Malformations ISO RGD:1316170 D RGD:9068941 20200609 RGD DNA:snp:cds:p.G562E (human) PMID:16598045|REF_RGD_ID:1581204 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9003443 Central Nervous System Vascular Malformations ISO RGD:1316171 D RGD:9068941 20200609 RGD PMID:16598045|REF_RGD_ID:1581204 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1316170 D RGD:7240710 20240306 OMIM 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1316170 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | ClinVar Annotator: match by term: HANAC-like syndrome PMID:16159887|PMID:16199547|PMID:17030722|PMID:17078022|PMID:17576681|PMID:18077766|PMID:18160688|PMID:1867713|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:20818663|PMID:21527998|PMID:21625620|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25228067|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:27794444|PMID:28492532|PMID:29602769|PMID:30087447|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31922066|PMID:33353976|PMID:33527515|PMID:33532864|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9006637 Schizencephaly ISO RGD:1316170 D RGD:8554872 20230117 ClinVar ClinVar Annotator: match by term: SCHIZENCEPHALY PMID:25741868|PMID:28492532 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9007096 Stroke ISO RGD:1316170 D RGD:9068941 20200609 RGD PMID:16374828|REF_RGD_ID:1581205 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9008296 Eye Abnormalities ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20385946 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9775 diastolic heart failure ISO RGD:1316170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8910733 Col4a1 collagen type IV alpha 1 chain gene DOID:9970 obesity ISO RGD:1307148 D RGD:9068941 20240208 RGD mRNA:increased expression:kidney (rat) PMID:28746409|REF_RGD_ID:401965413 8910796 Sec16b SEC16 homolog B, endoplasmic reticulum export factor gene DOID:1540 parathyroid carcinoma ISO RGD:737396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8910796 Sec16b SEC16 homolog B, endoplasmic reticulum export factor gene DOID:630 genetic disease ISO RGD:737396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910796 Sec16b SEC16 homolog B, endoplasmic reticulum export factor gene DOID:9007633 Body Weight ISO RGD:737396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 8910796 Sec16b SEC16 homolog B, endoplasmic reticulum export factor gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8910796 Sec16b SEC16 homolog B, endoplasmic reticulum export factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8910844 Kdm7a lysine demethylase 7A gene DOID:0080690 RASopathy ISO RGD:1606499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8910844 Kdm7a lysine demethylase 7A gene DOID:1909 melanoma ISO RGD:1606499 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22143793|REF_RGD_ID:9587848 8910844 Kdm7a lysine demethylase 7A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8910844 Kdm7a lysine demethylase 7A gene DOID:630 genetic disease ISO RGD:1606499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910875 Thap3 THAP domain containing 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351040 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8910875 Thap3 THAP domain containing 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1351040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8910875 Thap3 THAP domain containing 3 gene DOID:630 genetic disease ISO RGD:1351040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910875 Thap3 THAP domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8910885 Shox2 SHOX homeobox 2 gene DOID:0060847 Leri-Weill dyschondrosteosis ISO RGD:11290 D RGD:9068941 20220825 MouseDO OMIM:127300 8910885 Shox2 SHOX homeobox 2 gene DOID:1324 lung cancer ISO RGD:736918 D RGD:9068941 20200609 RGD PMID:25331797|REF_RGD_ID:12859082 8910885 Shox2 SHOX homeobox 2 gene DOID:630 genetic disease ISO RGD:736918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910885 Shox2 SHOX homeobox 2 gene DOID:674 cleft palate ISO RGD:11290 D RGD:9068941 20200609 RGD PMID:16141225|REF_RGD_ID:12859081 8910898 Znf438 zinc finger protein 438 gene DOID:1909 melanoma ISO RGD:1603538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8910898 Znf438 zinc finger protein 438 gene DOID:630 genetic disease ISO RGD:1603538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910930 Nat16 N-acetyltransferase 16 (putative) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8910930 Nat16 N-acetyltransferase 16 (putative) gene DOID:630 genetic disease ISO RGD:1601690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910930 Nat16 N-acetyltransferase 16 (putative) gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1601690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 8910937 Hycc2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1605824 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910937 Hycc2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1605824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8910937 Hycc2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8910937 Hycc2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9004657 Weight Gain ISO RGD:1605824 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8910937 Hycc2 hyccin PI4KA lipid kinase complex subunit 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1605824 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8910985 Plin1 perilipin 1 gene DOID:0050440 familial partial lipodystrophy ISO RGD:733482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8910985 Plin1 perilipin 1 gene DOID:0070205 familial partial lipodystrophy type 4 ISO RGD:733482 D RGD:7240710 20180912 OMIM 8910985 Plin1 perilipin 1 gene DOID:0070205 familial partial lipodystrophy type 4 ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PLIN1-related condition | ClinVar Annotator: match by term: PLIN1-related familial partial lipodystrophy PMID:21345103|PMID:25114292|PMID:25741868|PMID:28492532|PMID:29747582 8910985 Plin1 perilipin 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:733482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8910985 Plin1 perilipin 1 gene DOID:2717 Bloom syndrome ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8910985 Plin1 perilipin 1 gene DOID:630 genetic disease ISO RGD:733482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8910985 Plin1 perilipin 1 gene DOID:9256 colorectal cancer ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8910985 Plin1 perilipin 1 gene DOID:9351 diabetes mellitus ISO RGD:733482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:25741868|PMID:28492532 8910985 Plin1 perilipin 1 gene DOID:9970 obesity ISO RGD:733482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15001633 8910985 Plin1 perilipin 1 gene DOID:9970 obesity susceptibility ISO RGD:733482 D RGD:9068941 20200609 RGD DNA:snp:intron:g.11482G>A (human) PMID:15985482|REF_RGD_ID:1581041 8910985 Plin1 perilipin 1 gene DOID:9970 obesity susceptibility ISO RGD:736220 D RGD:9068941 20200609 RGD PMID:11371650|REF_RGD_ID:737723 8910998 Klhdc9 kelch domain containing 9 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1605002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8910998 Klhdc9 kelch domain containing 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1605002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8910998 Klhdc9 kelch domain containing 9 gene DOID:630 genetic disease ISO RGD:1605002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8910998 Klhdc9 kelch domain containing 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8911021 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8911021 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1320908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8911021 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1320908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8911021 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1320908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8911021 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320908 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8911021 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:630 genetic disease ISO RGD:1320908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911021 Ptrh1 peptidyl-tRNA hydrolase 1 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8911030 Ikzf4 IKAROS family zinc finger 4 gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:1312328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:20116044|PMID:22045982|PMID:22689679|PMID:23718193|PMID:23812780|PMID:28492532 8911030 Ikzf4 IKAROS family zinc finger 4 gene DOID:12306 vitiligo ISO RGD:1312328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 8911030 Ikzf4 IKAROS family zinc finger 4 gene DOID:630 genetic disease ISO RGD:1312328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911030 Ikzf4 IKAROS family zinc finger 4 gene DOID:640 encephalomyelitis ISO RGD:1312329 D RGD:9068941 20220825 MouseDO 8911030 Ikzf4 IKAROS family zinc finger 4 gene DOID:986 alopecia areata ISO RGD:1312328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 8911057 Ca13 carbonic anhydrase 13 gene DOID:630 genetic disease ISO RGD:1322168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911068 Crbn cereblon gene DOID:0060308 autosomal recessive intellectual developmental disorder ISO RGD:1551562 D RGD:9068941 20220825 MouseDO OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 8911068 Crbn cereblon gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1321492 D RGD:7240710 20180130 OMIM 8911068 Crbn cereblon gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A PMID:10932263|PMID:15557513|PMID:18414213|PMID:18414909|PMID:23983124|PMID:24088041|PMID:24993823|PMID:25741868|PMID:26633545|PMID:28143899|PMID:28492532 8911068 Crbn cereblon gene DOID:1059 intellectual disability ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8911068 Crbn cereblon gene DOID:630 genetic disease ISO RGD:1321492 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8911068 Crbn cereblon gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8911068 Crbn cereblon gene DOID:9006534 Nervous System Malformations ISO RGD:1321492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27751757 8911068 Crbn cereblon gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1321492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27751757 8911068 Crbn cereblon gene DOID:9538 multiple myeloma ISO RGD:1321492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8911083 Znf689 zinc finger protein 689 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1603925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8911083 Znf689 zinc finger protein 689 gene DOID:630 genetic disease ISO RGD:1603925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:1059 intellectual disability ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:12849 autistic disorder ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:4450 renal cell carcinoma ISO RGD:1351703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:4450 renal cell carcinoma ISO RGD:1351703 D RGD:9068941 20200609 RGD PMID:12917640|REF_RGD_ID:1599384 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:630 genetic disease ISO RGD:1351703 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30595499|PMID:32409512 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:9001418 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES ISO RGD:1351703 D RGD:7240710 20220209 OMIM 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:9001418 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES ISO RGD:1351703 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies PMID:25741868|PMID:28492532|PMID:29758562|PMID:30595499|PMID:31833172|PMID:32409512 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351703 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:30595499|PMID:31833172|PMID:32409512 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:9006749 Renal Cell Carcinoma, Xp11-Associated ISO RGD:1351703 D RGD:7240710 20180130 OMIM 8911095 Tfe3 transcription factor binding to IGHM enhancer 3 gene DOID:9006749 Renal Cell Carcinoma, Xp11-Associated ISO RGD:1351703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, Xp11-associated 8911117 Slc5a10 solute carrier family 5 member 10 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1313138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8911117 Slc5a10 solute carrier family 5 member 10 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1313138 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8911117 Slc5a10 solute carrier family 5 member 10 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1313138 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8911117 Slc5a10 solute carrier family 5 member 10 gene DOID:12849 autistic disorder ISO RGD:1313138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8911117 Slc5a10 solute carrier family 5 member 10 gene DOID:630 genetic disease ISO RGD:1313138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911117 Slc5a10 solute carrier family 5 member 10 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1313138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 8911167 Gpr158 G protein-coupled receptor 158 gene DOID:630 genetic disease ISO RGD:1314117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911167 Gpr158 G protein-coupled receptor 158 gene DOID:684 hepatocellular carcinoma ISO RGD:1314117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8911182 Pcdh15 protocadherin related 15 gene DOID:0050439 Usher syndrome ISO RGD:1353280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28041643|PMID:28281779|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 8911182 Pcdh15 protocadherin related 15 gene DOID:0050439 Usher syndrome ISO RGD:1353280 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:16963483|PMID:17576681|PMID:18484607|PMID:19375528|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24940003|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26166082|PMID:26467025|PMID:26791358|PMID:27058588|PMID:27440999|PMID:27460420|PMID:27861356|PMID:28041643|PMID:28281779|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:33576794|PMID:34416374|PMID:9536098 8911182 Pcdh15 protocadherin related 15 gene DOID:0050563 nonsyndromic deafness ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:25741868|PMID:28281779|PMID:28492532 8911182 Pcdh15 protocadherin related 15 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:30303587 8911182 Pcdh15 protocadherin related 15 gene DOID:0110481 autosomal recessive nonsyndromic deafness 23 ISO RGD:1353280 D RGD:7240710 20180130 OMIM 8911182 Pcdh15 protocadherin related 15 gene DOID:0110481 autosomal recessive nonsyndromic deafness 23 ISO RGD:1353280 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 23 PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17277737|PMID:17576681|PMID:18484607|PMID:18719945|PMID:19107147|PMID:19375528|PMID:19683999|PMID:20301442|PMID:20538994|PMID:21436283|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:22981120|PMID:23451239|PMID:23591405|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24705292|PMID:24831256|PMID:24940003|PMID:25262649|PMID:25307757|PMID:25333064|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25525159|PMID:25575603|PMID:25741868|PMID:26166082|PMID:26226137|PMID:26467025|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27058588|PMID:27068579|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27861356|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28847902|PMID:28944237|PMID:29568747|PMID:30029624|PMID:30054919|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31231422|PMID:32467589|PMID:32747562|PMID:33111345|PMID:33576794|PMID:34416374|PMID:34440452|PMID:34744965|PMID:34751129|PMID:35802133|PMID:35836572|PMID:36147510|PMID:36633841|PMID:9536098 8911182 Pcdh15 protocadherin related 15 gene DOID:0110826 Usher syndrome type 1 ISO RGD:1353280 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:16963483|PMID:17576681|PMID:20301442|PMID:20672374|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24940003|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26166082|PMID:26467025|PMID:26791358|PMID:26969326|PMID:27058588|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27610647|PMID:27766948|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:31054281|PMID:33090715|PMID:33576794|PMID:34416374|PMID:9536098 8911182 Pcdh15 protocadherin related 15 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:28492532 8911182 Pcdh15 protocadherin related 15 gene DOID:0110831 Usher syndrome type 1D ISO RGD:1353280 D RGD:7240710 20180130 OMIM 8911182 Pcdh15 protocadherin related 15 gene DOID:0110831 Usher syndrome type 1D ISO RGD:1353280 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17576681|PMID:18484607|PMID:18719945|PMID:19375528|PMID:20301442|PMID:21436283|PMID:21569298|PMID:22135276|PMID:22815625|PMID:22981120|PMID:23451239|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:25999675|PMID:26166082|PMID:26467025|PMID:26872967|PMID:27058588|PMID:27460420|PMID:27610647|PMID:27766948|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28847902|PMID:29568747|PMID:29625443|PMID:30245029|PMID:30311386|PMID:30718709|PMID:34416374|PMID:9536098 8911182 Pcdh15 protocadherin related 15 gene DOID:0110832 Usher syndrome type 1F ISO RGD:1353280 D RGD:7240710 20180130 OMIM 8911182 Pcdh15 protocadherin related 15 gene DOID:0110832 Usher syndrome type 1F ISO RGD:1353280 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16283880|PMID:16679490|PMID:16963483|PMID:17277737|PMID:17576681|PMID:18484607|PMID:18719945|PMID:19107147|PMID:19375528|PMID:19683999|PMID:20301442|PMID:20538994|PMID:20672374|PMID:21436283|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:22952768|PMID:22981120|PMID:23451239|PMID:23462753|PMID:23591405|PMID:23767834|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24705292|PMID:24831256|PMID:24853665|PMID:24940003|PMID:25262649|PMID:25307757|PMID:25333064|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25525159|PMID:25575603|PMID:25741868|PMID:26166082|PMID:26226137|PMID:26279247|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27058588|PMID:27068579|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27583663|PMID:27610647|PMID:27743452|PMID:27766948|PMID:27861356|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28559085|PMID:28847902|PMID:28900111|PMID:28944237|PMID:28968992|PMID:28984810|PMID:29074561|PMID:29568747|PMID:29625443|PMID:30029624|PMID:30054919|PMID:30245029|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31054281|PMID:32467589|PMID:33089500|PMID:33090715|PMID:33111345|PMID:33576794|PMID:33749171|PMID:34416374|PMID:34744965|PMID:34751129|PMID:35836572|PMID:36147510|PMID:9536098 8911182 Pcdh15 protocadherin related 15 gene DOID:0110834 Usher syndrome type 1G ISO RGD:1353280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1G PMID:11398101|PMID:11487575|PMID:12588794|PMID:12711741|PMID:14570705|PMID:15028842|PMID:20301442|PMID:22815625|PMID:24033266|PMID:24105371|PMID:25262649|PMID:25307757|PMID:25525159|PMID:25741868|PMID:27460420|PMID:28492532 8911182 Pcdh15 protocadherin related 15 gene DOID:10487 Hirschsprung's disease ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8911182 Pcdh15 protocadherin related 15 gene DOID:10584 retinitis pigmentosa ISO RGD:1353280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 8911182 Pcdh15 protocadherin related 15 gene DOID:12849 autistic disorder ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8911182 Pcdh15 protocadherin related 15 gene DOID:303 substance-related disorder ISO RGD:1353280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8911182 Pcdh15 protocadherin related 15 gene DOID:5419 schizophrenia ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8911182 Pcdh15 protocadherin related 15 gene DOID:5463 cochlear disease ISO RGD:1353280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10978835 8911182 Pcdh15 protocadherin related 15 gene DOID:630 genetic disease ISO RGD:1353280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8911182 Pcdh15 protocadherin related 15 gene DOID:8501 fundus dystrophy ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11398101|PMID:11487575|PMID:14570705|PMID:22815625|PMID:23451239|PMID:25741868|PMID:26791358|PMID:27208204|PMID:27743452|PMID:28492532|PMID:30311386|PMID:30459346 8911182 Pcdh15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:21569298|PMID:22183965|PMID:22815625|PMID:24033266|PMID:24105371|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28492532|PMID:30311386 8911182 Pcdh15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:20301442|PMID:21569298|PMID:22183965|PMID:22815625|PMID:24033266|PMID:24105371|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28492532|PMID:30311386 8911182 Pcdh15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24831256|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27460420|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:9536098 8911182 Pcdh15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:16963483|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24940003|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26166082|PMID:26467025|PMID:26791358|PMID:27058588|PMID:27440999|PMID:27460420|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:34416374|PMID:9536098 8911182 Pcdh15 protocadherin related 15 gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1353280 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:11398101|PMID:11487575|PMID:12711741|PMID:14570705|PMID:15028842|PMID:15537665|PMID:15660226|PMID:16679490|PMID:16963483|PMID:17576681|PMID:20301442|PMID:21569298|PMID:22135276|PMID:22183965|PMID:22815625|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24940003|PMID:25262649|PMID:25307757|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26166082|PMID:26467025|PMID:26791358|PMID:27058588|PMID:27440999|PMID:27460420|PMID:27861356|PMID:28492532|PMID:28847902|PMID:30245029|PMID:30311386|PMID:30718709|PMID:33576794|PMID:34416374|PMID:9536098 8911182 Pcdh15 protocadherin related 15 gene DOID:9004538 Hearing Loss ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25468891|PMID:25741868|PMID:28492532|PMID:30311386 8911182 Pcdh15 protocadherin related 15 gene DOID:9006896 Usher Syndrome, Type ID/F ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC PMID:15537665|PMID:15660226|PMID:24033266 8911182 Pcdh15 protocadherin related 15 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1353280 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:23804846|PMID:25741868|PMID:26226137|PMID:28492532|PMID:30029624 8911182 Pcdh15 protocadherin related 15 gene DOID:9008681 Deafness ISO RGD:1353280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10978835 8911182 Pcdh15 protocadherin related 15 gene DOID:9008681 Deafness ISO RGD:1590969 D RGD:9068941 20210910 RGD DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat) PMID:19151506|REF_RGD_ID:2306012 8911182 Pcdh15 protocadherin related 15 gene DOID:9849 Meniere's disease ISO RGD:1353280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:25741868|PMID:28492532 8911222 C1ql1 complement C1q like 1 gene DOID:630 genetic disease ISO RGD:1314427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911228 Gjb2 gap junction protein beta 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11386851|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12668604|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:14070830|PMID:14505035|PMID:14556203|PMID:14643477|PMID:14676473|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15146674|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15504600|PMID:15547422|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15790391|PMID:15832357|PMID:15841999|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16945493|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17462767|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17567887|PMID:17567889|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18451998|PMID:18472371|PMID:18560174|PMID:18570691|PMID:18649181|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19051073|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19274344|PMID:19283857|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19723508|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20542681|PMID:20553101|PMID:20563649|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20890442|PMID:20937258|PMID:20956747|PMID:21040787|PMID:2104787|PMID:21094084|PMID:21094651|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563 8911228 Gjb2 gap junction protein beta 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1351211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:21298213|PMID:21366436|PMID:21388256|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21728791|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21868108|PMID:21910243|PMID:21916817|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24596593|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24793888|PMID:24840842|PMID:24941117|PMID:24945352|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25153233|PMID:25162826|PMID:25188385|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25555641|PMID:25560255|PMID:25587757|PMID:25625422|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25741895|PMID:25788563|PMID:25999548|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26186295|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26445815|PMID:26467025|PMID:26482070|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26769242|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26969326|PMID:26990548|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27308839|PMID:27316387|PMID:27398341|PMID:27466889|PMID:27481527|PMID:27501294|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27792752|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28012523|PMID:28263784|PMID:28271504|PMID:28383030|PMID:28405014|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29062245|PMID:29106882|PMID:29140768|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:29542069|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30168495|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30733538|PMID:30755392|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31162818|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31581539|PMID:31620696|PMID:31827275|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33614373|PMID:34062854|PMID:34335733|PMID:34440441|PMID:34515852|PMID:34652575|PMID:35016843|PMID:35301649|PMID:35396755|PMID:35864128|PMID:6409293|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448|PMID:9856479 8911228 Gjb2 gap junction protein beta 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351211 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10204859|PMID:10218527|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10980526|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551104|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11807148|PMID:11935342|PMID:11968091|PMID:12081719|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:12239718|PMID:12372058|PMID:12522556|PMID:12668604|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:14070830|PMID:14643477|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15151513|PMID:15219044|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15464308|PMID:15479191|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15790391|PMID:15855033|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16088916|PMID:16125251|PMID:16222667|PMID:16336662|PMID:16379542|PMID:16380907|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:16945493|PMID:17146393|PMID:17253936|PMID:17406097|PMID:17428550|PMID:17462767|PMID:17553572|PMID:17576681|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18570691|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:19072567|PMID:19157576|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19715472|PMID:19814620|PMID:19925344|PMID:19929407|PMID:19929408|PMID:20022641|PMID:20073550|PMID:20086291|PMID:20096356|PMID:20201936|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20407643|PMID:20563649|PMID:20739944|PMID:20815033|PMID:20890442|PMID:21040787|PMID:2104787|PMID:21122151|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21510145|PMID:21776002|PMID:21910243|PMID:22000900|PMID:22281373|PMID:22567152|PMID:22567369|PMID:22613756|PMID:22695344|PMID:22855627|PMID:22975760|PMID:22981120|PMID:22995991|PMID:23073770|PMID:23141775|PMID:23451214|PMID:23489192|PMID:23504403|PMID:23638949|PMID:23668481|PMID:23680645|PMID:23757202|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24158611|PMID:24346070|PMID:24387126|PMID:24529908|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25153233|PMID:25189242|PMID:25262649|PMID:25288386|PMID:25388846|PMID:25555641|PMID:25636251|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26188157|PMID:26381000|PMID:26445815|PMID:26467025|PMID:26778469|PMID:26969326|PMID:2706105|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27316387|PMID:27481527|PMID:27843504|PMID:28492532|PMID:29062245|PMID:29362677|PMID:29501291|PMID:29921236|PMID:3|PMID:30086704|PMID:30094485|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:30989077|PMID:31346875|PMID:31827275|PMID:32747562|PMID:33187236|PMID:33524517|PMID:33614373|PMID:34440441|PMID:35396755|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9819448|PMID:9856479 8911228 Gjb2 gap junction protein beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 8911228 Gjb2 gap junction protein beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15482471|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15952212|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17106596|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18758381|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984 8911228 Gjb2 gap junction protein beta 2 gene DOID:0050658 Bart-Pumphrey syndrome ISO RGD:1351211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25741895|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26445815|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27308839|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30565282|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33187236|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33614373|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:34515852|PMID:34652575|PMID:35016843|PMID:35396755|PMID:35864128|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448 8911228 Gjb2 gap junction protein beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351211 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:10501520|PMID:10607953|PMID:10633133|PMID:10983956|PMID:11385713|PMID:11438992|PMID:12111646|PMID:12172394|PMID:12352684|PMID:12384781|PMID:12505163|PMID:12522692|PMID:12560944|PMID:12865758|PMID:14505035|PMID:14985372|PMID:15070423|PMID:15479191|PMID:15700112|PMID:15937416|PMID:15967879|PMID:16380907|PMID:16712961|PMID:17505205|PMID:18414213|PMID:19043807|PMID:19050930|PMID:19366456|PMID:20083784|PMID:20095872|PMID:20301449|PMID:20497192|PMID:20739944|PMID:22695344|PMID:22747691|PMID:22991996|PMID:24013081|PMID:24033266|PMID:24341454|PMID:25266519|PMID:25741868|PMID:26043044|PMID:26061264|PMID:26119842|PMID:26336802|PMID:26467025|PMID:27045574|PMID:27610647|PMID:28012523|PMID:28492532|PMID:30589569|PMID:30693673 8911228 Gjb2 gap junction protein beta 2 gene DOID:0060372 Parkinson's disease 15 ISO RGD:1351211 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Parkinson disease 15 PMID:25741868|PMID:26467025 8911228 Gjb2 gap junction protein beta 2 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1351211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:30311386 8911228 Gjb2 gap junction protein beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 8911228 Gjb2 gap junction protein beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12752120|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14700667|PMID:14722929|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15769851|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:16885744|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17428836|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18024254|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20101161|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20412116|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926 8911228 Gjb2 gap junction protein beta 2 gene DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome ISO RGD:1351211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant PMID:21281533|PMID:21287563|PMID:21292415|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22031297|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25741895|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26445815|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27087580|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27308839|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27761313|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33187236|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33614373|PMID:33928925|PMID:34008892|PMID:34062854|PMID:34335733|PMID:34440441|PMID:34515852|PMID:34652575|PMID:35016843|PMID:35396755|PMID:35864128|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110253 cataract 14 multiple types ISO RGD:1351211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110465 autosomal recessive nonsyndromic deafness 104 ISO RGD:1351211 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 104 PMID:10204859|PMID:10218527|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11668644|PMID:11807148|PMID:11935342|PMID:12081719|PMID:12172392|PMID:12176036|PMID:12239718|PMID:12522556|PMID:12684873|PMID:12746422|PMID:12786762|PMID:14070830|PMID:14694360|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15070423|PMID:15113126|PMID:15359540|PMID:15666300|PMID:15954104|PMID:15967879|PMID:16088916|PMID:16336662|PMID:16380907|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:17406097|PMID:17428550|PMID:17553572|PMID:17576681|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18804553|PMID:18925674|PMID:18985073|PMID:19371219|PMID:19375528|PMID:19814620|PMID:19925344|PMID:20022641|PMID:20073550|PMID:20086291|PMID:20201936|PMID:20236118|PMID:20301449|PMID:20739944|PMID:20815033|PMID:21122151|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21776002|PMID:21910243|PMID:22000900|PMID:22281373|PMID:22567152|PMID:22567369|PMID:22855627|PMID:22975760|PMID:22981120|PMID:23489192|PMID:23680645|PMID:23757202|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24346070|PMID:24529908|PMID:24793888|PMID:24840842|PMID:24959830|PMID:25012701|PMID:25189242|PMID:25288386|PMID:25555641|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26445815|PMID:26467025|PMID:26969326|PMID:2706105|PMID:27177978|PMID:27224056|PMID:27481527|PMID:27843504|PMID:28492532|PMID:29362677|PMID:29501291|PMID:30086704|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:31346875|PMID:32747562|PMID:33524517|PMID:34440441|PMID:35396755|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9819448 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1351211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:24367894|PMID:25741868 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:7240710 20180130 OMIM 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10704187|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11445873|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12457340|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12885339|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14571368|PMID:14643477|PMID:14676473|PMID:14681040|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14978038|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15146674|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15603707|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15638823|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15790391|PMID:15832357|PMID:15841999|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15994881|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16645853|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:16885744|PMID:1693158|PMID:16931589|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17077310|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17309986|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17428836|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17567887|PMID:17567889|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18024254|PMID:18196482|PMID:18294064|PMID:18316665|PMID:18324688|PMID:18353197|PMID:18414213|PMID:18451998|PMID:18472371|PMID:18519481|PMID:18560174|PMID:18570691|PMID:18580690|PMID:18607988|PMID:18649181|PMID:18668259|PMID:18684989|PMID:18688874|PMID:18758381|PMID:18776652|PMID:18804553|PMID:18809215|PMID:18837651|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:18990456|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19101659|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19283857|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19390476|PMID:19465004|PMID:19567088|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19718752|PMID:19719946|PMID:19723508|PMID:19744334|PMID:19775242|PMID:19814620|PMID:19877196|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:20022641|PMID:20031451|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20412116|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20542681|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20601923|PMID:20607074|PMID:20639189|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20937258|PMID:20956747|PMID:20981092|PMID:21040787|PMID:2104787|PMID:21055240|PMID:21094084|PMID:21094651|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21292415|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21388256|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21557232|PMID:21728791|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21868108|PMID:21910243|PMID:21912263|PMID:21916817|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22031297|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22450542|PMID:22484064|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22787277|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23120683|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23418865|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23695287|PMID:23751281|PMID:23757202|PMID:23804846|PMID:23812555|PMID:23826813|PMID:23856378|PMID:23873582|PMID:23900770|PMID:23967136|PMID:23967202|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24078562|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24224790|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24372583|PMID:24503448|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24596593|PMID:24611097|PMID:24612839|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24941117|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25162826|PMID:25188385|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25560255|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25741895|PMID:25752103|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26046157|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26186295|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26397989|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26445815|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27067584|PMID:27087580|PMID:27153395|PMID:27169813|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27308839|PMID:27316387|PMID:27340645|PMID:27398341|PMID:27466889|PMID:27481527|PMID:27501294|PMID:27518711|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27761313|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1351211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:28263784|PMID:28271504|PMID:28383030|PMID:28405014|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28640090|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29140768|PMID:29148562|PMID:29196752|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:29542069|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29665173|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30168495|PMID:30245029|PMID:30275481|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30473554|PMID:30589569|PMID:30693673|PMID:30733538|PMID:30755392|PMID:30762455|PMID:30828346|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178|PMID:31053783|PMID:31099403|PMID:31152317|PMID:31160754|PMID:31162818|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31379920|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31827275|PMID:31911633|PMID:31980526|PMID:31992338|PMID:32067424|PMID:32090102|PMID:32258544|PMID:32355288|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33179747|PMID:33187236|PMID:33297549|PMID:33333757|PMID:33466560|PMID:33524517|PMID:33597575|PMID:33614373|PMID:33914963|PMID:33928925|PMID:34062854|PMID:34276761|PMID:34325055|PMID:34335733|PMID:34354426|PMID:34403091|PMID:34440441|PMID:34515852|PMID:34652575|PMID:35016843|PMID:35182233|PMID:35301649|PMID:35396755|PMID:35864128|PMID:36048236|PMID:36788145|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9838096|PMID:9856479 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:10049954|PMID:10204859|PMID:10218527|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11445873|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11807148|PMID:11912510|PMID:11935342|PMID:11968091|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12865758|PMID:12885339|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14571368|PMID:14694360|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15479191|PMID:15617550|PMID:15638823|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15994881|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17331080|PMID:17357124|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19707039|PMID:19715472|PMID:19814620|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20095872|PMID:20154630|PMID:20201936|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20497192|PMID:20563649|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20981092|PMID:21094084|PMID:21122151|PMID:21162657|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21488715|PMID:21776002|PMID:21811586|PMID:21910243|PMID:22000900|PMID:22011219|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22855627|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23489192|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23668481|PMID:23680645|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24158611|PMID:24341454|PMID:24346070|PMID:24529908|PMID:24611097|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25087612|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25555641|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25999548|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26336802|PMID:26444186|PMID:26445815|PMID:26467025 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1351211 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:26482070|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26969326|PMID:27045574|PMID:2706105|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27308839|PMID:27481527|PMID:27610647|PMID:27623246|PMID:27785406|PMID:27792752|PMID:27843504|PMID:27884957|PMID:28012523|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29921236|PMID:29926981|PMID:3|PMID:30086704|PMID:30094485|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31562289|PMID:31827275|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33126609|PMID:33187236|PMID:33297549|PMID:33333757|PMID:33524517|PMID:33614373|PMID:34440441|PMID:34515852|PMID:35016843|PMID:35396755|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9422505|PMID:9482292|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110547 autosomal dominant nonsyndromic deafness 16 ISO RGD:1351211 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 16 PMID:24367894|PMID:25741868 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:7240710 20180130 OMIM 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10704187|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10807696|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11298683|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12457340|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12668604|PMID:12673800|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786758|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14676473|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14978038|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16645853|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16931589|PMID:16945493|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17309986|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17462767|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17567887|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18316665|PMID:18324688|PMID:18353197|PMID:18414213|PMID:18451998|PMID:18472371|PMID:18560174|PMID:18570691|PMID:18607988|PMID:18668259|PMID:18684989|PMID:18688874|PMID:18758381|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19101659|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19274344|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19465004|PMID:19567088|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19718752|PMID:19719946|PMID:19723508|PMID:19744334|PMID:19775242|PMID:19814620|PMID:19877196|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20031451|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20854437|PMID:20863150|PMID:20890442|PMID:20937258|PMID:20956747|PMID:20981092|PMID:21040787|PMID:2104787|PMID:21055240|PMID:21094084|PMID:21094651|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21388256|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21484990|PMID:21488715|PMID:21510145|PMID:21557232|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21868108|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23856378|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24372583|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24596593|PMID:24611097|PMID:24612839|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24941117|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25162826|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25741895|PMID:25752103|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26397989|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26445815|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27169813|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27308839|PMID:27316387|PMID:27398341|PMID:27481527|PMID:27501294|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28263784|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28640090|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29140768|PMID:29148562|PMID:29196752|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30168495|PMID:30245029|PMID:30275481|PMID:30303587|PMID:30311386|PMID:30344259 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110564 autosomal dominant nonsyndromic deafness 3A ISO RGD:1351211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30762455|PMID:30828346|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178|PMID:31053783|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31379920|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31827275|PMID:31911633|PMID:31980526|PMID:31992338|PMID:32067424|PMID:32090102|PMID:32258544|PMID:32355288|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33187236|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33614373|PMID:33928925|PMID:34062854|PMID:34276761|PMID:34335733|PMID:34403091|PMID:34440441|PMID:34515852|PMID:34652575|PMID:35016843|PMID:35182233|PMID:35301649|PMID:35396755|PMID:35864128|PMID:36048236|PMID:36788145|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 8911228 Gjb2 gap junction protein beta 2 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:28492532 8911228 Gjb2 gap junction protein beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 8911228 Gjb2 gap junction protein beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15769851|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18758381|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20101161|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647 8911228 Gjb2 gap junction protein beta 2 gene DOID:0111339 Vohwinkel syndrome ISO RGD:1351211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25741895|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26445815|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27308839|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33187236|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33614373|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:34515852|PMID:34652575|PMID:35016843|PMID:35396755|PMID:35864128|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9326398|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448 8911228 Gjb2 gap junction protein beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 8911228 Gjb2 gap junction protein beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27316387|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:35396755|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 8911228 Gjb2 gap junction protein beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11354642|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12372058|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12668604|PMID:12673800|PMID:12684873|PMID:12700168|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:15996214|PMID:16059934|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16945493|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17462767|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18758381|PMID:18776652|PMID:18793701|PMID:18804553|PMID:18924167|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20890442|PMID:20956747|PMID:20981092|PMID:21040787|PMID:2104787|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926 8911228 Gjb2 gap junction protein beta 2 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1351211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23451214|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24387126|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24611097|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25153233|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25741895|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26445815|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27308839|PMID:27316387|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33187236|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33614373|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:34515852|PMID:34652575|PMID:35016843|PMID:35396755|PMID:35864128|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 8911228 Gjb2 gap junction protein beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10807696|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384781|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14738110|PMID:14985372|PMID:14986832|PMID:15040442|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15482471|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949 8911228 Gjb2 gap junction protein beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25937001|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26467025|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28590052|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32747562|PMID:33096615|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9819448 8911228 Gjb2 gap junction protein beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384781|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18668259|PMID:18684989|PMID:18776652|PMID:18804553|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22106692|PMID:22281373|PMID:22384008 8911228 Gjb2 gap junction protein beta 2 gene DOID:0111737 X-linked deafness 2 ISO RGD:1351211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23695287|PMID:23757202|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24645897|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25741895|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26445815|PMID:26467025|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27308839|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32747562|PMID:33096615|PMID:33187236|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33614373|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:34515852|PMID:34652575|PMID:35016843|PMID:35396755|PMID:35864128|PMID:6409293|PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9819448 8911228 Gjb2 gap junction protein beta 2 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:1351211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome PMID:25741868|PMID:28492532|PMID:30431684 8911228 Gjb2 gap junction protein beta 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1351211 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:10204859|PMID:10369869|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10874298|PMID:10982180|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11556849|PMID:11668644|PMID:11807148|PMID:11912510|PMID:11918723|PMID:12072059|PMID:12081719|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12189493|PMID:12239718|PMID:12522556|PMID:12548749|PMID:12562518|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12865758|PMID:14070830|PMID:14643477|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14986832|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15359540|PMID:15365987|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15757815|PMID:15769851|PMID:15954104|PMID:15967879|PMID:16088916|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16380907|PMID:16532460|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:17330861|PMID:17426645|PMID:17428550|PMID:17553572|PMID:17660464|PMID:17666888|PMID:17671735|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18472371|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18985073|PMID:18987669|PMID:19043807|PMID:19101659|PMID:19125024|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19925344|PMID:19929408|PMID:20073550|PMID:20086291|PMID:20086306|PMID:20101161|PMID:20236118|PMID:20301449|PMID:20668687|PMID:20739944|PMID:20815033|PMID:21055240|PMID:21220926|PMID:21366436|PMID:21465647|PMID:21468573|PMID:21910243|PMID:22037723|PMID:22281373|PMID:22389666|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22613756|PMID:22704424|PMID:22855627|PMID:22975760|PMID:22981120|PMID:22995991|PMID:23489192|PMID:23668481|PMID:23757202|PMID:23797420|PMID:23924173|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24158896|PMID:24346070|PMID:24737404|PMID:24774219|PMID:25262649|PMID:25266519|PMID:25388846|PMID:25575739|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26178431|PMID:26188157|PMID:26445815|PMID:26467025|PMID:26553399|PMID:26749107|PMID:26778469|PMID:26969326|PMID:2706105|PMID:27141831|PMID:27153395|PMID:27884173|PMID:28492532|PMID:29362677|PMID:29501291|PMID:30086704|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30431684|PMID:30872814|PMID:31160754|PMID:32067424|PMID:33524517|PMID:34440441|PMID:35396755|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9529365|PMID:9600457|PMID:9620796|PMID:9819448 8911228 Gjb2 gap junction protein beta 2 gene DOID:12577 urethral obstruction ISO RGD:728891 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:urothelium: PMID:11900482|REF_RGD_ID:11568666 8911228 Gjb2 gap junction protein beta 2 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1351211 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:17666888|PMID:25741868|PMID:30755392 8911228 Gjb2 gap junction protein beta 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:728891 D RGD:9068941 20200609 RGD PMID:7762611|REF_RGD_ID:7349397 8911228 Gjb2 gap junction protein beta 2 gene DOID:14693 Clouston syndrome ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 8911228 Gjb2 gap junction protein beta 2 gene DOID:1697 ichthyosis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 8911228 Gjb2 gap junction protein beta 2 gene DOID:2121 ectodermal dysplasia ISO RGD:1351211 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 8911228 Gjb2 gap junction protein beta 2 gene DOID:2280 hidradenitis suppurativa ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 8911228 Gjb2 gap junction protein beta 2 gene DOID:326 ischemia ISO RGD:728891 D RGD:9068941 20200609 RGD in urinary bladder; protein:increased expression:urothelium: PMID:24728265|REF_RGD_ID:11568671 8911228 Gjb2 gap junction protein beta 2 gene DOID:3390 palmoplantar keratosis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 8911228 Gjb2 gap junction protein beta 2 gene DOID:3488 cellulitis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 8911228 Gjb2 gap junction protein beta 2 gene DOID:3910 lung adenocarcinoma ISO RGD:728891 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:lung PMID:16637067|REF_RGD_ID:11568669 8911228 Gjb2 gap junction protein beta 2 gene DOID:4677 keratitis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172043 8911228 Gjb2 gap junction protein beta 2 gene DOID:630 genetic disease ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10049954|PMID:10204859|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10903123|PMID:10982180|PMID:10982182|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11556849|PMID:11668644|PMID:11746015|PMID:11807148|PMID:11935342|PMID:12081719|PMID:12121355|PMID:12172392|PMID:12176036|PMID:12189493|PMID:12239718|PMID:12384501|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12560944|PMID:12684873|PMID:12786762|PMID:12792423|PMID:12865758|PMID:14070830|PMID:14694360|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:15113126|PMID:15235031|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15479191|PMID:15666300|PMID:15700112|PMID:15954104|PMID:15967879|PMID:16077952|PMID:16088916|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16380907|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16868655|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17331080|PMID:17357124|PMID:17426645|PMID:17428550|PMID:17553572|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18804553|PMID:18925674|PMID:18985073|PMID:19027181|PMID:19125024|PMID:19173109|PMID:19235794|PMID:19371219|PMID:19375528|PMID:19707039|PMID:19925344|PMID:19941053|PMID:20073550|PMID:20083784|PMID:20236118|PMID:20301449|PMID:20708129|PMID:20739944|PMID:20815033|PMID:21131880|PMID:21220926|PMID:21287563|PMID:21465647|PMID:21468573|PMID:21488715|PMID:21811586|PMID:21910243|PMID:22106692|PMID:22281373|PMID:22567152|PMID:22574200|PMID:22668073|PMID:22695344|PMID:22785241|PMID:22855627|PMID:22975760|PMID:22981120|PMID:23141775|PMID:23489192|PMID:23555729|PMID:23637863|PMID:23668481|PMID:23680645|PMID:23757202|PMID:23804846|PMID:23826813|PMID:23873582|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24346070|PMID:24529908|PMID:24611097|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24945352|PMID:25085072|PMID:25262649|PMID:25288386|PMID:25326637|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26236732|PMID:26346709|PMID:26399936|PMID:26445815|PMID:26467025|PMID:26482070|PMID:26885124|PMID:26896187|PMID:26969326|PMID:2706105|PMID:27224056|PMID:27308839|PMID:27623246|PMID:27884957|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29773520|PMID:29926981|PMID:30086704|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:31160754|PMID:31370293|PMID:31562289|PMID:31620164|PMID:32258544|PMID:33126609|PMID:33524517|PMID:34440441|PMID:35016843|PMID:35396755|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9422505|PMID:9482292|PMID:9529365|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448 8911228 Gjb2 gap junction protein beta 2 gene DOID:684 hepatocellular carcinoma ISO RGD:728891 D RGD:9068941 20200609 RGD DNA, mRNA:promoter hypermethylation, decreased expression:liver PMID:17295234|REF_RGD_ID:2289638 8911228 Gjb2 gap junction protein beta 2 gene DOID:7188 autoimmune thyroiditis ISO RGD:728891 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression, altered expression:thyroid gland: PMID:8770903|REF_RGD_ID:7349390 8911228 Gjb2 gap junction protein beta 2 gene DOID:8893 psoriasis ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187|PMID:24212883 8911228 Gjb2 gap junction protein beta 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:728891 D RGD:9068941 20200609 RGD PMID:1336494|REF_RGD_ID:7349398 8911228 Gjb2 gap junction protein beta 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1351211 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:17666888|PMID:25741868|PMID:30755392 8911228 Gjb2 gap junction protein beta 2 gene DOID:9002633 Premature Obstetric Labor ISO RGD:728891 D RGD:9068941 20200609 RGD PMID:8612484|REF_RGD_ID:11568660 8911228 Gjb2 gap junction protein beta 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:1351211 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868|PMID:26467025 8911228 Gjb2 gap junction protein beta 2 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:728891 D RGD:9068941 20200609 RGD protein:increased expression:cochlea: PMID:15224875|REF_RGD_ID:7349367 8911228 Gjb2 gap junction protein beta 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1351211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7586191 8911228 Gjb2 gap junction protein beta 2 gene DOID:9004538 Hearing Loss ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10704187|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12112666|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12457340|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14681040|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15146674|PMID:15150777|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15479191|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15769851|PMID:15790391|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16545002|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16931589|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17661817|PMID:17666888|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18414213|PMID:18451998|PMID:18519481|PMID:18560174|PMID:18570691|PMID:18684989|PMID:18758381|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19723508|PMID:19814620|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20096356|PMID:20101161|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20441744|PMID:20442751|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20639189|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20937258|PMID:20981092|PMID:21040787|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298644|PMID:21366436|PMID:21388256|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21510145|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21868108|PMID:21910243|PMID:21912263|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22037723|PMID:22106692|PMID:22208444|PMID:22281373|PMID:22384008|PMID:22429511|PMID:22498363|PMID:22567152 8911228 Gjb2 gap junction protein beta 2 gene DOID:9004538 Hearing Loss ISO RGD:1351211 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:22567369|PMID:22574200|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22995991|PMID:23039283|PMID:23120683|PMID:23141775|PMID:23328711|PMID:23418865|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23668481|PMID:23680645|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24158611|PMID:24256046|PMID:24346070|PMID:24503448|PMID:24529908|PMID:24611097|PMID:24654934|PMID:24737404|PMID:24762805|PMID:24793888|PMID:24840842|PMID:24945352|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25162826|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25388846|PMID:25401782|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25788563|PMID:25808784|PMID:25999548|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26445815|PMID:26467025|PMID:26482070|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27308839|PMID:27340645|PMID:27398341|PMID:27481527|PMID:27534436|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843504|PMID:27884957|PMID:28012523|PMID:28263784|PMID:28271504|PMID:28428247|PMID:28489599|PMID:28492532|PMID:29106882|PMID:29140768|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29605365|PMID:29625052|PMID:29921236|PMID:29926981|PMID:3|PMID:30068397|PMID:30086704|PMID:30094485|PMID:30168495|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30589569|PMID:30693673|PMID:30733538|PMID:30872814|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31581539|PMID:31589614|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32455934|PMID:32645618|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33333757|PMID:33524517|PMID:33614373|PMID:34325055|PMID:34335733|PMID:34440441|PMID:34515852|PMID:35016843|PMID:35301649|PMID:35396755|PMID:6409293|PMID:9139825|PMID:9285800|PMID:9326398|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9716127|PMID:9819448 8911228 Gjb2 gap junction protein beta 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:728891 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina: PMID:22110070|REF_RGD_ID:7364887 8911228 Gjb2 gap junction protein beta 2 gene DOID:9005709 Keratitis-Ichthyosis-Deafness Syndrome ISO RGD:1351211 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome PMID:10049954|PMID:10508996|PMID:10596881|PMID:10903123|PMID:10982182|PMID:11074495|PMID:11386851|PMID:11556849|PMID:11668644|PMID:11935342|PMID:15967879|PMID:16380907|PMID:17666888|PMID:18414213|PMID:19125024|PMID:20301449|PMID:20739944|PMID:21465647|PMID:22567369|PMID:22695344|PMID:22785241|PMID:24033266|PMID:24158611|PMID:24529908|PMID:25741868|PMID:26096904|PMID:26236732|PMID:26467025|PMID:26896187|PMID:27224056|PMID:28428247|PMID:28492532|PMID:30311386|PMID:31160754|PMID:9285800|PMID:9819448 8911228 Gjb2 gap junction protein beta 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1351211 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss PMID:10049954|PMID:10376574|PMID:10508996|PMID:10596881|PMID:10903123|PMID:10982182|PMID:11074495|PMID:11102979|PMID:11216656|PMID:11313763|PMID:11386851|PMID:11493200|PMID:11556849|PMID:11584050|PMID:11668644|PMID:11935342|PMID:12189487|PMID:12560944|PMID:12865758|PMID:12925341|PMID:14681040|PMID:14694360|PMID:14722929|PMID:15070423|PMID:15150777|PMID:15365987|PMID:15617550|PMID:15666300|PMID:15967879|PMID:16217030|PMID:16222667|PMID:16380907|PMID:16467727|PMID:16931589|PMID:16950989|PMID:17041943|PMID:17146393|PMID:17666888|PMID:17935238|PMID:18414213|PMID:18758381|PMID:19125024|PMID:19371219|PMID:19384972|PMID:19715472|PMID:19929407|PMID:20086306|PMID:20234132|PMID:20301449|PMID:20381175|PMID:20553101|PMID:20739944|PMID:20863150|PMID:21094084|PMID:21287563|PMID:21465647|PMID:21912263|PMID:22567369|PMID:22613756|PMID:22695344|PMID:22785241|PMID:23266159|PMID:24033266|PMID:24158611|PMID:24256046|PMID:24529908|PMID:24706568|PMID:24941117|PMID:25162826|PMID:25388846|PMID:25401782|PMID:25741868|PMID:26096904|PMID:26236732|PMID:26346709|PMID:26467025|PMID:26749107|PMID:26763877|PMID:26896187|PMID:27045574|PMID:27224056|PMID:27247933|PMID:27501294|PMID:27534436|PMID:28428247|PMID:28492532|PMID:29196752|PMID:29501291|PMID:30311386|PMID:30896630|PMID:31160754|PMID:34354426|PMID:9285800|PMID:9819448 8911228 Gjb2 gap junction protein beta 2 gene DOID:9008681 Deafness ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Deafness PMID:10204859|PMID:10218527|PMID:10376574|PMID:10422812|PMID:10477435|PMID:10508996|PMID:10544226|PMID:10607953|PMID:10633133|PMID:10713883|PMID:10751669|PMID:10782932|PMID:10830906|PMID:10982180|PMID:10982182|PMID:11313751|PMID:11313763|PMID:11386851|PMID:11483639|PMID:11493200|PMID:11551104|PMID:11668644|PMID:11807148|PMID:12081719|PMID:12172392|PMID:12176036|PMID:12176179|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12684873|PMID:12786762|PMID:14070830|PMID:14694360|PMID:14735592|PMID:14985372|PMID:14986832|PMID:15070423|PMID:15113126|PMID:15146474|PMID:15359540|PMID:15365987|PMID:15666300|PMID:15954104|PMID:15967879|PMID:16088916|PMID:16300957|PMID:16336662|PMID:163800907|PMID:16380907|PMID:16773579|PMID:16849369|PMID:16868655|PMID:17041943|PMID:17428550|PMID:17553572|PMID:17661817|PMID:17993581|PMID:18294064|PMID:18414213|PMID:18804553|PMID:18925674|PMID:18985073|PMID:19173109|PMID:19371219|PMID:19375528|PMID:19925344|PMID:19941053|PMID:20073550|PMID:20236118|PMID:20301449|PMID:20739944|PMID:20815033|PMID:21094084|PMID:21220926|PMID:21465647|PMID:21468573|PMID:21910243|PMID:22037723|PMID:22281373|PMID:22567152|PMID:22855627|PMID:22975760|PMID:22981120|PMID:23489192|PMID:23757202|PMID:24033266|PMID:24039984|PMID:24158611|PMID:24346070|PMID:24793888|PMID:25189242|PMID:25214170|PMID:25637381|PMID:25741868|PMID:25999548|PMID:26059209|PMID:26096904|PMID:26445815|PMID:26467025|PMID:26896187|PMID:26969326|PMID:2706105|PMID:28492532|PMID:29293505|PMID:29311818|PMID:29362677|PMID:29501291|PMID:30086704|PMID:30303587|PMID:30311386|PMID:30431684|PMID:30872814|PMID:33333757|PMID:33524517|PMID:34440441|PMID:35396755|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9482292|PMID:9600457|PMID:9620796|PMID:9819448 8911228 Gjb2 gap junction protein beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:7240710 20180130 OMIM 8911228 Gjb2 gap junction protein beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:10049954|PMID:10204859|PMID:102185257|PMID:10218527|PMID:10353784|PMID:10369869|PMID:10376574|PMID:10377081|PMID:10422812|PMID:10477435|PMID:10501520|PMID:10508996|PMID:10544226|PMID:10556284|PMID:10596881|PMID:10607953|PMID:10633133|PMID:10633135|PMID:10713883|PMID:10751669|PMID:10757647|PMID:10782932|PMID:10830906|PMID:10874298|PMID:10903123|PMID:10905664|PMID:10980526|PMID:10982180|PMID:10982182|PMID:10983956|PMID:11032405|PMID:11073548|PMID:11074495|PMID:11102979|PMID:11134236|PMID:11216656|PMID:11313751|PMID:11313763|PMID:11385713|PMID:11386851|PMID:11438992|PMID:11439000|PMID:11483639|PMID:11493200|PMID:11494963|PMID:11551103|PMID:11551104|PMID:115556849|PMID:11556849|PMID:11584050|PMID:11587277|PMID:11668644|PMID:11698809|PMID:11746015|PMID:11788148|PMID:11807148|PMID:11896458|PMID:11912510|PMID:11918723|PMID:11935342|PMID:11968091|PMID:11977173|PMID:12064630|PMID:12072059|PMID:12081719|PMID:12111646|PMID:12121355|PMID:12167443|PMID:12172392|PMID:12172394|PMID:12176036|PMID:12176179|PMID:1218943|PMID:12189487|PMID:12189493|PMID:12239718|PMID:12325027|PMID:12352684|PMID:12384501|PMID:12384781|PMID:12408072|PMID:12417772|PMID:12457154|PMID:12497637|PMID:12505163|PMID:12522556|PMID:12522692|PMID:12548749|PMID:12560944|PMID:12562518|PMID:12666888|PMID:12673800|PMID:12684873|PMID:12746422|PMID:12786762|PMID:12791041|PMID:12792423|PMID:12833397|PMID:12851846|PMID:12865758|PMID:12872268|PMID:12910486|PMID:12925341|PMID:14070830|PMID:14505035|PMID:14643477|PMID:14691997|PMID:14694360|PMID:14722929|PMID:14735592|PMID:14978038|PMID:14985372|PMID:14986832|PMID:15033936|PMID:15070423|PMID:1511312|PMID:15113126|PMID:15146474|PMID:15150777|PMID:15151513|PMID:15219044|PMID:15235031|PMID:15241677|PMID:15253766|PMID:15359540|PMID:15365987|PMID:15464305|PMID:15464308|PMID:15479191|PMID:15488970|PMID:15504600|PMID:15547422|PMID:15547423|PMID:15577772|PMID:15592461|PMID:15617546|PMID:15617550|PMID:15633193|PMID:15656949|PMID:15666300|PMID:15700112|PMID:15744158|PMID:15757815|PMID:15769851|PMID:15790391|PMID:15832357|PMID:15855033|PMID:15937416|PMID:15954104|PMID:15964725|PMID:15967879|PMID:16076412|PMID:16077952|PMID:16088916|PMID:16125251|PMID:16154643|PMID:16217030|PMID:16222667|PMID:16300957|PMID:16336662|PMID:16379178|PMID:16379542|PMID:163800907|PMID:16380907|PMID:16467727|PMID:16532460|PMID:16545002|PMID:16645853|PMID:16650079|PMID:16712961|PMID:16773579|PMID:16840571|PMID:16849369|PMID:16864573|PMID:16868655|PMID:1693158|PMID:16950989|PMID:16952406|PMID:17036313|PMID:17041943|PMID:17146393|PMID:17146396|PMID:17253936|PMID:17309986|PMID:17330861|PMID:17331080|PMID:17357124|PMID:17366579|PMID:17406097|PMID:17426645|PMID:17428550|PMID:17431919|PMID:17444514|PMID:17485979|PMID:17505205|PMID:17553572|PMID:17576681|PMID:17581693|PMID:17660464|PMID:17661817|PMID:17666888|PMID:17671735|PMID:17935238|PMID:17993581|PMID:18196482|PMID:18294064|PMID:18324688|PMID:18353197|PMID:18414213|PMID:18451998|PMID:18560174|PMID:18570691|PMID:18607988|PMID:18668259|PMID:18684989|PMID:18758381|PMID:18776652|PMID:18804553|PMID:18843290|PMID:18925674|PMID:18941476|PMID:18983339|PMID:18985073|PMID:18987669|PMID:18988928|PMID:19027181|PMID:19043807|PMID:19050930|PMID:19072567|PMID:19081147|PMID:19125024|PMID:19157576|PMID:19173109|PMID:19230829|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19375528|PMID:19384972|PMID:19465004|PMID:19587431|PMID:19707039|PMID:19715472|PMID:19719946|PMID:19723508|PMID:19775242|PMID:19814620|PMID:19877196|PMID:19887791|PMID:19925344|PMID:19929407|PMID:19929408|PMID:19941053|PMID:20022641|PMID:20031451|PMID:20059378|PMID:20073550|PMID:20083784|PMID:20086291|PMID:20086306|PMID:20095872|PMID:20101161|PMID:20146813|PMID:20154630|PMID:20201936|PMID:20233142|PMID:20234132|PMID:20236118|PMID:20301449|PMID:20381175|PMID:20407643|PMID:20441744|PMID:20497192|PMID:20553101|PMID:20563649|PMID:20593197|PMID:20607074|PMID:20650534|PMID:20668687|PMID:20708129|PMID:20739944|PMID:20815033|PMID:20863150|PMID:20956747|PMID:20981092 8911228 Gjb2 gap junction protein beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:21055240|PMID:21094084|PMID:21112098|PMID:21122151|PMID:21131880|PMID:21162657|PMID:21198395|PMID:21220926|PMID:21281533|PMID:21287563|PMID:21298213|PMID:21298644|PMID:21366436|PMID:21392827|PMID:21465647|PMID:21468573|PMID:21481246|PMID:21488715|PMID:21738759|PMID:21776002|PMID:21777984|PMID:21811586|PMID:21836520|PMID:21844220|PMID:21910243|PMID:21962949|PMID:22000900|PMID:22011219|PMID:22016077|PMID:22037723|PMID:22103400|PMID:22106692|PMID:22281373|PMID:22384008|PMID:22389666|PMID:22429511|PMID:22450542|PMID:22498363|PMID:22567152|PMID:22567369|PMID:22567861|PMID:22574200|PMID:22592158|PMID:22613756|PMID:22643125|PMID:22668073|PMID:22695344|PMID:22701767|PMID:22704424|PMID:22747691|PMID:22785241|PMID:22796187|PMID:22808909|PMID:22855627|PMID:22925408|PMID:22975760|PMID:22981120|PMID:22991996|PMID:22995991|PMID:23039283|PMID:23073770|PMID:23141775|PMID:23266159|PMID:23328711|PMID:23477838|PMID:23489192|PMID:23503914|PMID:23504403|PMID:23555729|PMID:23637863|PMID:23638949|PMID:23665763|PMID:23668481|PMID:23680645|PMID:23684175|PMID:23695287|PMID:23757202|PMID:23797420|PMID:23804846|PMID:23826813|PMID:23873582|PMID:23900770|PMID:23924173|PMID:23967136|PMID:24013081|PMID:24033266|PMID:24039984|PMID:24123366|PMID:24156272|PMID:24158611|PMID:24158896|PMID:24256046|PMID:24341454|PMID:24346070|PMID:24367894|PMID:24507663|PMID:24529908|PMID:24551843|PMID:24596593|PMID:24611097|PMID:24612839|PMID:24645897|PMID:24654934|PMID:24706568|PMID:24737404|PMID:24762805|PMID:24774219|PMID:24785414|PMID:24793888|PMID:24840842|PMID:24941117|PMID:24945352|PMID:24949729|PMID:24959830|PMID:25012701|PMID:25085072|PMID:25085637|PMID:25087612|PMID:25149764|PMID:25162826|PMID:25189242|PMID:25214170|PMID:25262649|PMID:25266519|PMID:25270357|PMID:25288386|PMID:25326637|PMID:25365227|PMID:25388846|PMID:25401782|PMID:25447126|PMID:25493717|PMID:25555641|PMID:25575739|PMID:25587757|PMID:25625422|PMID:25628337|PMID:25636251|PMID:25637381|PMID:25708704|PMID:25741868|PMID:25741895|PMID:25788563|PMID:25808784|PMID:25891447|PMID:25999548|PMID:26004784|PMID:26043044|PMID:26059209|PMID:26061099|PMID:26061264|PMID:26088551|PMID:26095810|PMID:26096904|PMID:26117665|PMID:26119842|PMID:26178431|PMID:26188157|PMID:26236732|PMID:26252218|PMID:26330914|PMID:26336802|PMID:26346709|PMID:26361564|PMID:26381000|PMID:26399936|PMID:26409293|PMID:26444186|PMID:26445815|PMID:26467025|PMID:26482070|PMID:26540915|PMID:26542351|PMID:26553399|PMID:26561413|PMID:26749107|PMID:26763877|PMID:26778469|PMID:26885124|PMID:26896187|PMID:26940866|PMID:26969326|PMID:26990548|PMID:27018795|PMID:27045574|PMID:27057829|PMID:2706105|PMID:27063752|PMID:27141831|PMID:27153395|PMID:27177978|PMID:27224056|PMID:27247933|PMID:27308839|PMID:27398341|PMID:27481527|PMID:27501294|PMID:27534436|PMID:27610647|PMID:27623246|PMID:27627659|PMID:27785406|PMID:27792752|PMID:27843123|PMID:27843504|PMID:27884173|PMID:27884957|PMID:28008688|PMID:28012523|PMID:28222800|PMID:28271504|PMID:28383030|PMID:28428247|PMID:28489599|PMID:28492532|PMID:28583500|PMID:28651654|PMID:28704896|PMID:28900111|PMID:29062245|PMID:29106882|PMID:29148562|PMID:29293505|PMID:29311818|PMID:29320412|PMID:29362677|PMID:29501291|PMID:2956987|PMID:29625052|PMID:29773520|PMID:29921236|PMID:29926981|PMID:29986705|PMID:3|PMID:30086704|PMID:30094485|PMID:30146550|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30344259|PMID:30390570|PMID:30431684|PMID:30466042|PMID:30589569|PMID:30693673|PMID:30828346|PMID:30872814|PMID:30896630|PMID:30989077|PMID:31035178|PMID:31099403|PMID:31160754|PMID:31163360|PMID:31195736|PMID:31346875|PMID:31370293|PMID:31541171|PMID:31562289|PMID:31569309|PMID:31589614|PMID:31620164|PMID:31620696|PMID:31827275|PMID:31980526|PMID:31992338|PMID:32090102|PMID:32258544|PMID:32747562|PMID:33096615|PMID:33126609|PMID:33187236|PMID:33333757|PMID:33524517|PMID:33597575|PMID:33614373|PMID:33928925|PMID:34062854|PMID:34335733|PMID:34440441|PMID:34515852|PMID:34652575|PMID:35016843|PMID:35396755|PMID:35864128|PMID:6409293 8911228 Gjb2 gap junction protein beta 2 gene DOID:9008762 HID Syndrome ISO RGD:1351211 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:8789457|PMID:9139825|PMID:9285800|PMID:9328482|PMID:9336442|PMID:9393973|PMID:9422505|PMID:9471561|PMID:9482292|PMID:95239365|PMID:9529365|PMID:9536098|PMID:9600457|PMID:9620796|PMID:9710598|PMID:9716127|PMID:9819448|PMID:9856479 8911228 Gjb2 gap junction protein beta 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1351211 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:17666888|PMID:25741868|PMID:30755392 8911233 Cpm carboxypeptidase M gene DOID:10325 silicosis ISO RGD:1321490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24986923 8911233 Cpm carboxypeptidase M gene DOID:289 endometriosis ISO RGD:1321490 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8911233 Cpm carboxypeptidase M gene DOID:630 genetic disease ISO RGD:1321490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911245 Zfhx4 zinc finger homeobox 4 gene DOID:630 genetic disease ISO RGD:1346362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911245 Zfhx4 zinc finger homeobox 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346362 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16946494|PMID:21802062|PMID:24033266|PMID:24440720|PMID:25741868|PMID:33057194 8911245 Zfhx4 zinc finger homeobox 4 gene DOID:9004781 Congenital Ptosis, Hereditary 1 ISO RGD:1346362 D RGD:7240710 20180130 OMIM 8911245 Zfhx4 zinc finger homeobox 4 gene DOID:9004781 Congenital Ptosis, Hereditary 1 ISO RGD:1346362 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ptosis, hereditary congenital, 1 PMID:25741868|PMID:28492532 8911261 Tmem252 transmembrane protein 252 gene DOID:630 genetic disease ISO RGD:1353835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911267 Panx3 pannexin 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8911267 Panx3 pannexin 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8911267 Panx3 pannexin 3 gene DOID:5419 schizophrenia ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8911267 Panx3 pannexin 3 gene DOID:630 genetic disease ISO RGD:1351582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911267 Panx3 pannexin 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8911267 Panx3 pannexin 3 gene DOID:9007661 Dwarfism ISO RGD:1351582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8911275 Trappc14 trafficking protein particle complex subunit 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8911275 Trappc14 trafficking protein particle complex subunit 14 gene DOID:9003084 Primary Autosomal Recessive Microcephaly 25 ISO RGD:1605367 D RGD:7240710 20190315 OMIM 8911275 Trappc14 trafficking protein particle complex subunit 14 gene DOID:9003084 Primary Autosomal Recessive Microcephaly 25 ISO RGD:1605367 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive PMID:25741868|PMID:30715179 8911290 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8911290 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1604317 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532 8911290 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:0070017 autosomal recessive dyskeratosis congenita 2 ISO RGD:1604317 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 PMID:18523010|PMID:20301779|PMID:25741868|PMID:28492532 8911290 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8911290 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:14748 Sotos syndrome ISO RGD:1604317 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8911290 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:2729 dyskeratosis congenita ISO RGD:1604317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18523010|PMID:25741868|PMID:28492532 8911290 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:630 genetic disease ISO RGD:1604317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911290 Rmnd5b required for meiotic nuclear division 5 homolog B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604317 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8911307 Clec5a C-type lectin domain containing 5A gene DOID:0080690 RASopathy ISO RGD:1343085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8911307 Clec5a C-type lectin domain containing 5A gene DOID:12206 dengue hemorrhagic fever ISO RGD:1343085 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18496526 8911307 Clec5a C-type lectin domain containing 5A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1343085 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8911307 Clec5a C-type lectin domain containing 5A gene DOID:630 genetic disease ISO RGD:1343085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911307 Clec5a C-type lectin domain containing 5A gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1343085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 8911319 Itga3 integrin subunit alpha 3 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1321177 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25741868|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 8911319 Itga3 integrin subunit alpha 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1321177 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8911319 Itga3 integrin subunit alpha 3 gene DOID:11162 respiratory failure ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:25741868 8911319 Itga3 integrin subunit alpha 3 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchopulmonary dysplasia PMID:25741868 8911319 Itga3 integrin subunit alpha 3 gene DOID:1184 nephrotic syndrome ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:22512483|PMID:29127259 8911319 Itga3 integrin subunit alpha 3 gene DOID:2355 anemia ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 8911319 Itga3 integrin subunit alpha 3 gene DOID:2712 phimosis ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phimosis PMID:25741868 8911319 Itga3 integrin subunit alpha 3 gene DOID:2921 glomerulonephritis ISO RGD:1310333 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus (rat) PMID:19662603|REF_RGD_ID:2325666 8911319 Itga3 integrin subunit alpha 3 gene DOID:5844 myocardial infarction ISO RGD:1310333 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:19041328|REF_RGD_ID:2325287 8911319 Itga3 integrin subunit alpha 3 gene DOID:630 genetic disease ISO RGD:1321177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8911319 Itga3 integrin subunit alpha 3 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:25741868 8911319 Itga3 integrin subunit alpha 3 gene DOID:9002211 Hyperalgesia ISO RGD:1310333 D RGD:9068941 20200609 RGD PMID:14984413|REF_RGD_ID:2302389 8911319 Itga3 integrin subunit alpha 3 gene DOID:9002211 Hyperalgesia ISO RGD:1310333 D RGD:9068941 20200609 RGD knock-down using a specific monoclonal antibody or RNAi PMID:15836982|REF_RGD_ID:2302139 8911319 Itga3 integrin subunit alpha 3 gene DOID:9003936 Cardiomegaly ISO RGD:1310333 D RGD:9068941 20200609 RGD protein:increased expression:cardiac myocyte (rat) PMID:1835909|REF_RGD_ID:2325829 8911319 Itga3 integrin subunit alpha 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1310333 D RGD:9068941 20200609 RGD protein:decreased expression:renal cortex (rat) PMID:20525748|REF_RGD_ID:2325818 8911319 Itga3 integrin subunit alpha 3 gene DOID:9006333 Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome ISO RGD:1321177 D RGD:7240710 20180130 OMIM 8911319 Itga3 integrin subunit alpha 3 gene DOID:9006333 Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome ISO RGD:1321177 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital PMID:22512483|PMID:24088041|PMID:25741868|PMID:25810266|PMID:26633545|PMID:28492532|PMID:29127259 8911319 Itga3 integrin subunit alpha 3 gene DOID:9007356 Eczema ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eczema PMID:25741868 8911319 Itga3 integrin subunit alpha 3 gene DOID:9007764 Penoscrotal Transposition ISO RGD:1321177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital transposition of the penis PMID:25741868 8911348 Surf2 surfeit 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8911348 Surf2 surfeit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8911348 Surf2 surfeit 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1345081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8911348 Surf2 surfeit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8911348 Surf2 surfeit 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8911348 Surf2 surfeit 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1345081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8911348 Surf2 surfeit 2 gene DOID:3652 Leigh disease ISO RGD:1345081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8911348 Surf2 surfeit 2 gene DOID:630 genetic disease ISO RGD:1345081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911358 Mrpl27 mitochondrial ribosomal protein L27 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1319233 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868 8911358 Mrpl27 mitochondrial ribosomal protein L27 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1319233 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8911358 Mrpl27 mitochondrial ribosomal protein L27 gene DOID:630 genetic disease ISO RGD:1319233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:0060001 withdrawal disorder severity ISO RGD:68436 D RGD:9068941 20231221 RGD PMID:23113297|REF_RGD_ID:401938657 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:0060903 thrombosis ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24213632 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:1070 primary open angle glaucoma ISO RGD:68654 D RGD:9068941 20220825 MouseDO OMIM:137760 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:10763 hypertension ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18339647 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:3393 coronary artery disease ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22751097 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:5844 myocardial infarction ISO RGD:68653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 PMID:24213632 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:630 genetic disease ISO RGD:68653 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:68653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25373139 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9005580 Moyamoya Disease 1 ISO RGD:68653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYMY1 PMID:26777256 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9007087 Moyamoya Disease 6 with Achalasia ISO RGD:68653 D RGD:7240710 20180130 OMIM 8911366 Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 gene DOID:9007087 Moyamoya Disease 6 with Achalasia ISO RGD:68653 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia PMID:24581742|PMID:25741868|PMID:26777256|PMID:28492532 8911382 Sat1 spermidine/spermine N1-acetyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8911382 Sat1 spermidine/spermine N1-acetyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1346323 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8911382 Sat1 spermidine/spermine N1-acetyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1346323 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8911382 Sat1 spermidine/spermine N1-acetyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1346323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8911382 Sat1 spermidine/spermine N1-acetyltransferase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1346323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8911382 Sat1 spermidine/spermine N1-acetyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8911382 Sat1 spermidine/spermine N1-acetyltransferase 1 gene DOID:9970 obesity ISO RGD:1346323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8911419 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:0060041 autism spectrum disorder ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8911419 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 8911419 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:733168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 8911419 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 8911419 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:1540 parathyroid carcinoma ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8911419 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:5419 schizophrenia ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8911419 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:630 genetic disease ISO RGD:733168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911419 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8911419 Fmo5 flavin containing dimethylaniline monoxygenase 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8911435 Crybg2 crystallin beta-gamma domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1318501 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8911435 Crybg2 crystallin beta-gamma domain containing 2 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1318501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8911435 Crybg2 crystallin beta-gamma domain containing 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1318501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8911435 Crybg2 crystallin beta-gamma domain containing 2 gene DOID:630 genetic disease ISO RGD:1318501 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911469 Plin2 perilipin 2 gene DOID:630 genetic disease ISO RGD:730882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911469 Plin2 perilipin 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8911469 Plin2 perilipin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8911469 Plin2 perilipin 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:730883 D RGD:9068941 20200609 RGD associated with Obesity PMID:17484887|REF_RGD_ID:1625752 8911469 Plin2 perilipin 2 gene DOID:9007692 Insulin Resistance ISO RGD:730883 D RGD:9068941 20200609 RGD associated with Obesity PMID:17484887|REF_RGD_ID:1625752 8911469 Plin2 perilipin 2 gene DOID:9452 steatotic liver disease ISO RGD:730882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16439473 8911469 Plin2 perilipin 2 gene DOID:9452 steatotic liver disease ISO RGD:730883 D RGD:9068941 20200609 RGD associated with Obesity PMID:17484887|REF_RGD_ID:1625752 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy PMID:25741868 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 ISO RGD:1318489 D RGD:7240710 20240131 OMIM 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 ISO RGD:1318489 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT PMID:16159904|PMID:16199547|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17721876|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26224730|PMID:28492532|PMID:29056246|PMID:29655203|PMID:30043187 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080001 bone disease ISO RGD:1318489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25004007 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1318489 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 PMID:20554659|PMID:25741868|PMID:28492532 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1318489 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:23953072|PMID:25741868|PMID:28492532 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1318489 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy | ClinVar Annotator: match by term: Vitamin B6-dependent seizures PMID:16159904|PMID:16199547|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17433748|PMID:17576681|PMID:17721876|PMID:18414213|PMID:18717709|PMID:19128417|PMID:19142996|PMID:19294602|PMID:20207735|PMID:20301659|PMID:20370816|PMID:20554659|PMID:20814824|PMID:21733724|PMID:22305855|PMID:22371912|PMID:22529283|PMID:22728861|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:23683770|PMID:23916709|PMID:23925287|PMID:23953072|PMID:24033266|PMID:24122892|PMID:24184718|PMID:24613284|PMID:24664088|PMID:24664145|PMID:24748525|PMID:24789515|PMID:24848745|PMID:24942048|PMID:25123644|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25969726|PMID:26026794|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:26544041|PMID:26555630|PMID:26891797|PMID:26995068|PMID:27186704|PMID:27324284|PMID:27438048|PMID:28087462|PMID:28131559|PMID:28492532|PMID:28962114|PMID:29045138|PMID:29056246|PMID:29286531|PMID:29547829|PMID:29655203|PMID:29720203|PMID:29852413|PMID:29933521|PMID:30043187|PMID:31302938|PMID:31440721|PMID:31564432|PMID:31737911|PMID:31965297|PMID:32395249|PMID:32685344|PMID:33528079|PMID:33822359|PMID:33868381|PMID:34495967|PMID:34570182|PMID:34926809|PMID:9536098 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:1059 intellectual disability ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:11832 visual epilepsy ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30043187|PMID:9536098 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:12270 coloboma ISO RGD:1318489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25004007 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:14264 benign neonatal seizures ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neonatal seizures PMID:16199547|PMID:16491085|PMID:20554659|PMID:21733724|PMID:25741868|PMID:28492532 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:1826 epilepsy ISO RGD:1318489 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30043187 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:1826 epilepsy ISO RGD:1318489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:28492532|PMID:29056246|PMID:30043187|PMID:31564432|PMID:9536098 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:630 genetic disease ISO RGD:1318489 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10971205|PMID:16199547|PMID:16491085|PMID:17433748|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:19142996|PMID:20207735|PMID:20301659|PMID:20554659|PMID:20814824|PMID:22371912|PMID:22529283|PMID:23022070|PMID:23350806|PMID:23430810|PMID:24122892|PMID:24664088|PMID:24748525|PMID:24848745|PMID:24942048|PMID:25741868|PMID:25969726|PMID:26026794|PMID:26101365|PMID:26232297|PMID:26467025|PMID:26995068|PMID:27324284|PMID:27438048|PMID:28087462|PMID:28492532|PMID:29286531|PMID:30043187|PMID:31440721|PMID:31564432|PMID:31737911|PMID:33868381|PMID:34926809|PMID:9536098 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1318489 D RGD:9068941 20220616 RGD mRNA:altered expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1318489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:9000918 Disease Progression ISO RGD:1318489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:9002704 Leukoencephalopathies ISO RGD:1318489 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy PMID:25741868|PMID:28492532 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:9006534 Nervous System Malformations ISO RGD:1318489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16491085|PMID:25741868|PMID:27186704|PMID:28492532 8911479 Aldh7a1 aldehyde dehydrogenase 7 family member A1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318489 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8911505 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8911505 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1601733 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8911505 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:1059 intellectual disability ISO RGD:1601733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8911505 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:12177 common variable immunodeficiency ISO RGD:1601733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8911505 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1601733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8911505 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601733 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8911505 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1601733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8911505 Neurl4 neuralized E3 ubiquitin protein ligase 4 gene DOID:630 genetic disease ISO RGD:1601733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911549 Zfand2b zinc finger AN1-type containing 2B gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8911549 Zfand2b zinc finger AN1-type containing 2B gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8911549 Zfand2b zinc finger AN1-type containing 2B gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8911549 Zfand2b zinc finger AN1-type containing 2B gene DOID:1148 polydactyly ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8911549 Zfand2b zinc finger AN1-type containing 2B gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8911549 Zfand2b zinc finger AN1-type containing 2B gene DOID:630 genetic disease ISO RGD:1602437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911549 Zfand2b zinc finger AN1-type containing 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8911576 Bahd1 bromo adjacent homology domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1345980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8911576 Bahd1 bromo adjacent homology domain containing 1 gene DOID:630 genetic disease ISO RGD:1345980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911576 Bahd1 bromo adjacent homology domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1345980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8911599 Uck1 uridine-cytidine kinase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8911599 Uck1 uridine-cytidine kinase 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1318012 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy 8911599 Uck1 uridine-cytidine kinase 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1318012 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8911599 Uck1 uridine-cytidine kinase 1 gene DOID:573 nerve compression syndrome ISO RGD:1308313 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord ventral horn (rat) PMID:10581173|REF_RGD_ID:634248 8911599 Uck1 uridine-cytidine kinase 1 gene DOID:630 genetic disease ISO RGD:1318012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911633 Kiz kizuna centrosomal protein gene DOID:0110410 retinitis pigmentosa 69 ISO RGD:1316045 D RGD:7240710 20180130 OMIM 8911633 Kiz kizuna centrosomal protein gene DOID:0110410 retinitis pigmentosa 69 ISO RGD:1316045 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 69 PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 8911633 Kiz kizuna centrosomal protein gene DOID:10584 retinitis pigmentosa ISO RGD:1316045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24680887|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 8911633 Kiz kizuna centrosomal protein gene DOID:10584 retinitis pigmentosa ISO RGD:1316045 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671|PMID:32531858 8911633 Kiz kizuna centrosomal protein gene DOID:630 genetic disease ISO RGD:1316045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8911633 Kiz kizuna centrosomal protein gene DOID:8501 fundus dystrophy ISO RGD:1316045 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671 8911657 Snap23 synaptosome associated protein 23 gene DOID:2717 Bloom syndrome ISO RGD:1604652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8911657 Snap23 synaptosome associated protein 23 gene DOID:630 genetic disease ISO RGD:1604652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911657 Snap23 synaptosome associated protein 23 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8911657 Snap23 synaptosome associated protein 23 gene DOID:9007102 Myocardial Ischemia ISO RGD:1604652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8911657 Snap23 synaptosome associated protein 23 gene DOID:9256 colorectal cancer ISO RGD:1604652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:735273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:735273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:735273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:10283 prostate cancer ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:1059 intellectual disability ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:12704 ataxia telangiectasia ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:630 genetic disease ISO RGD:735273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29093066 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:735273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:9007980 Sleep Deprivation ISO RGD:619859 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:16923172|REF_RGD_ID:2313667 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:735273 D RGD:7240710 20180130 OMIM 8911676 Dlat dihydrolipoamide S-acetyltransferase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:735273 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:16049940|PMID:16199547|PMID:17576681|PMID:20022530|PMID:23021068|PMID:25741868|PMID:28492532|PMID:29093066|PMID:35094435|PMID:9536098 8911698 Odam odontogenic, ameloblast associated gene DOID:630 genetic disease ISO RGD:1603034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911710 Cecr2 cat eye syndrome chromosome region, candidate 2 gene DOID:0060668 anencephaly ISO RGD:1557284 D RGD:9068941 20220825 MouseDO OMIM:206500 8911710 Cecr2 cat eye syndrome chromosome region, candidate 2 gene DOID:0080074 neural tube defect ISO RGD:1350048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15640247 8911710 Cecr2 cat eye syndrome chromosome region, candidate 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8911710 Cecr2 cat eye syndrome chromosome region, candidate 2 gene DOID:12849 autistic disorder ISO RGD:1350048 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8911710 Cecr2 cat eye syndrome chromosome region, candidate 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8911710 Cecr2 cat eye syndrome chromosome region, candidate 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:736585 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:0080065 autosomal recessive spinocerebellar ataxia 19 ISO RGD:736585 D RGD:7240710 20180130 OMIM 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:0080065 autosomal recessive spinocerebellar ataxia 19 ISO RGD:736585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome PMID:25205112|PMID:25741868|PMID:28492532|PMID:30018422 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19111554 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:1459 hypothyroidism ISO RGD:3718 D RGD:9068941 20200609 RGD protein:decreased expression:heart, microsome PMID:12039959|REF_RGD_ID:625494 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:1591 renovascular hypertension treatment ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:12218313|REF_RGD_ID:727424 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:31250553|REF_RGD_ID:14985213 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:576 proteinuria ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:31250553|REF_RGD_ID:14985213 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:6000 congestive heart failure ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027022 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:6000 congestive heart failure ISO RGD:736585 D RGD:9068941 20200609 RGD PMID:18776042|REF_RGD_ID:6771337 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:630 genetic disease ISO RGD:736585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30018422 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:7998 hyperthyroidism ISO RGD:3718 D RGD:9068941 20200609 RGD protein:increased expression:heart, microsome PMID:12039959|REF_RGD_ID:625494 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:83 cataract ISO RGD:3718 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22407349|REF_RGD_ID:8693684 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9000197 Edema ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20553904 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9000641 Pain ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19248819 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:19384202|REF_RGD_ID:6771334 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17724433 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9002661 Diabetes Complications ISO RGD:3718 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18057998|REF_RGD_ID:6771339 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:20883671|REF_RGD_ID:6771331 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9004009 Reperfusion Injury ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:20337040|REF_RGD_ID:6771332 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9004009 Reperfusion Injury ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19027022 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3718 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19179646|REF_RGD_ID:6771336 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20003708 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3718 D RGD:9068941 20200609 RGD mRNA:increased expression:right ventricle myocardium PMID:22588937|REF_RGD_ID:6771239 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:17356886|REF_RGD_ID:1625560 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9007174 Ventricular Remodeling ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3718 D RGD:9068941 20200609 RGD PMID:22803959|REF_RGD_ID:6771238 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9206 Barrett's esophagus ISO RGD:736585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127259 8911733 Slc9a1 solute carrier family 9 member A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3718 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:22009485|REF_RGD_ID:6771327 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:0080922 bilateral frontoparietal polymicrogyria ISO RGD:1352005 D RGD:7240710 20190315 OMIM 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:0080922 bilateral frontoparietal polymicrogyria ISO RGD:1352005 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Bilateral frontoparietal polymicrogyria PMID:15044805|PMID:18414213|PMID:19016831|PMID:20929962|PMID:21349848|PMID:21723461|PMID:22238662|PMID:24033266|PMID:24949629|PMID:25642806|PMID:25741868|PMID:25922261|PMID:26467025|PMID:27657451|PMID:28097321|PMID:28424266|PMID:28492532|PMID:29707406|PMID:30511534|PMID:34513772 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:1352005 D RGD:7240710 20190315 OMIM 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:1352005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polymicrogyria, bilateral perisylvian, autosomal recessive PMID:25741868 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:1826 epilepsy ISO RGD:1352005 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:630 genetic disease ISO RGD:1352005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15044805|PMID:16240336|PMID:17576745|PMID:18042463|PMID:18414213|PMID:20929962|PMID:21349848|PMID:21723461|PMID:24949629|PMID:25741868|PMID:26467025|PMID:27818281|PMID:28424266|PMID:28492532 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352005 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1352005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:9006534 Nervous System Malformations ISO RGD:1352005 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8911755 Adgrg1 adhesion G protein-coupled receptor G1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:0050888 syndromic intellectual disability ISO RGD:730907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:11832 visual epilepsy ISO RGD:2735 D RGD:9068941 20200609 RGD PMID:12080343|REF_RGD_ID:625595 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:2340 craniosynostosis ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730907 D RGD:9068941 20231109 RGD DNA:SNP: :rs8099939 PMID:28900078|REF_RGD_ID:401900295 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:2735 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:3328 temporal lobe epilepsy ISO RGD:730907 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:9848088|REF_RGD_ID:2316538 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:5419 schizophrenia ISO RGD:730907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:630 genetic disease ISO RGD:730907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:9004009 Reperfusion Injury ISO RGD:2735 D RGD:9068941 20200609 RGD PMID:17639597|REF_RGD_ID:2316528 8911773 Grik5 glutamate ionotropic receptor kainate type subunit 5 gene DOID:9269 maple syrup urine disease ISO RGD:730907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8911810 Pigw phosphatidylinositol glycan anchor biosynthesis class W gene DOID:0060041 autism spectrum disorder ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8911810 Pigw phosphatidylinositol glycan anchor biosynthesis class W gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1352879 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 8911810 Pigw phosphatidylinositol glycan anchor biosynthesis class W gene DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome ISO RGD:1352879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8911810 Pigw phosphatidylinositol glycan anchor biosynthesis class W gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:1352879 D RGD:7240710 20180130 OMIM 8911810 Pigw phosphatidylinositol glycan anchor biosynthesis class W gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:1352879 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24367057|PMID:24905847|PMID:25741868|PMID:26123568|PMID:27626616|PMID:28492532|PMID:30679815|PMID:30813920|PMID:31604004|PMID:32198969|PMID:32466763|PMID:9398836 8911810 Pigw phosphatidylinositol glycan anchor biosynthesis class W gene DOID:12849 autistic disorder ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8911810 Pigw phosphatidylinositol glycan anchor biosynthesis class W gene DOID:5419 schizophrenia ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8911810 Pigw phosphatidylinositol glycan anchor biosynthesis class W gene DOID:630 genetic disease ISO RGD:1352879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30679815 8911810 Pigw phosphatidylinositol glycan anchor biosynthesis class W gene DOID:674 cleft palate ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:28492532 8911810 Pigw phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8911810 Pigw phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9007061 Glycosylphosphatidylinositol Biosynthesis Defect 1 ISO RGD:1352879 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:25741868 8911810 Pigw phosphatidylinositol glycan anchor biosynthesis class W gene DOID:9008086 Developmental Disabilities ISO RGD:1352879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8911819 Cul9 cullin 9 gene DOID:0050444 infantile Refsum disease ISO RGD:1604392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8911819 Cul9 cullin 9 gene DOID:10488 imperforate anus ISO RGD:1604392 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Imperforate anus PMID:25741868 8911819 Cul9 cullin 9 gene DOID:630 genetic disease ISO RGD:1604392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911819 Cul9 cullin 9 gene DOID:905 Zellweger syndrome ISO RGD:1604392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8911864 Tnni3 troponin I3, cardiac type gene DOID:0050638 transthyretin amyloidosis ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:21310275|PMID:23967088|PMID:24033266|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:28492532 8911864 Tnni3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20057144|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28382084|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29255176|PMID:29661763|PMID:30731207|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:34540771|PMID:35535697|PMID:7592712|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20057144|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28382084|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29255176|PMID:29661763|PMID:30731207|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:34540771|PMID:35050212|PMID:35535697|PMID:7592712|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17576681|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:18801787|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20569525|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22361390|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22579625|PMID:22675533|PMID:22765922|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:25086479|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:27895589|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28359509|PMID:28382084|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29661763|PMID:29875424|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30385303|PMID:30615648|PMID:30731207|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32758068|PMID:32830170|PMID:32870709|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33673806|PMID:33906374|PMID:34036930|PMID:34137518|PMID:34213952|PMID:34286374|PMID:34540771|PMID:35050212|PMID:35470680|PMID:35535697|PMID:35653365|PMID:36129056|PMID:7592712|PMID:9241277|PMID:9536098 8911864 Tnni3 troponin I3, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:737204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:16754800|PMID:17010989|PMID:17576681|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18409188|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:18801787|PMID:19033660|PMID:19035361|PMID:19289050|PMID:19590045|PMID:19645627|PMID:19651143|PMID:19754353|PMID:19914256|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20215591|PMID:20350521|PMID:20474083|PMID:20530761|PMID:20569525|PMID:20624503|PMID:20641121|PMID:21239446|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22361390|PMID:22386593|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22579625|PMID:22675533|PMID:22765922|PMID:22857948|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23785128|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25558701|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:27895589|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28359509|PMID:28382084|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28498465|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29447731|PMID:29551499|PMID:29661763|PMID:29875424|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30385303|PMID:30615648|PMID:30731207|PMID:30847666|PMID:30993396|PMID:31006259|PMID:31112419|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31771441|PMID:31877599|PMID:31912959|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32731933|PMID:32746448|PMID:32758068|PMID:32815737|PMID:32830170|PMID:32870709|PMID:33029862|PMID:33407484|PMID:33487615|PMID:3349559|PMID:33495596|PMID:33495597|PMID:33662488|PMID:33673806|PMID:33777698|PMID:33906374|PMID:34036930|PMID:34137518|PMID:34213952|PMID:34286374|PMID:34363016|PMID:34540771|PMID:35027292|PMID:35050212|PMID:35470680|PMID:35470684|PMID:35535697|PMID:35626289|PMID:35653365|PMID:35838873|PMID:36129056|PMID:36252119|PMID:36291626|PMID:36411388|PMID:36981019|PMID:7592712|PMID:9241277|PMID:9536098 8911864 Tnni3 troponin I3, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22386593|PMID:22429680|PMID:22579625|PMID:22675533|PMID:22857948|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:30384889|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32815737|PMID:32830170|PMID:33029862|PMID:33407484|PMID:33487615|PMID:3349559|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33777698|PMID:33906374|PMID:34137518|PMID:34363016|PMID:35470680|PMID:35535697|PMID:35653365|PMID:36291626|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19289050|PMID:19449150|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26741492|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29176140|PMID:29907873|PMID:30279906|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32686758|PMID:33407484|PMID:33673806|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25326637|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:34137518|PMID:35535697|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22429680|PMID:22464770|PMID:22579625|PMID:22675533|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25786579|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33673806|PMID:33777698|PMID:33906374|PMID:34137518|PMID:35535697|PMID:35653365|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:15070570|PMID:15201162|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18408133|PMID:18423659|PMID:19033660|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20035081|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22112859|PMID:22301726|PMID:22386593|PMID:22429680|PMID:22464770|PMID:22579625|PMID:22675533|PMID:22857948|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26169204|PMID:26440512|PMID:26506446|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30279906|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32815737|PMID:32830170|PMID:33029862|PMID:33407484|PMID:33487615|PMID:3349559|PMID:33495596|PMID:33495597|PMID:33673806|PMID:33777698|PMID:33906374|PMID:34137518|PMID:34363016|PMID:35470680|PMID:35535697|PMID:35653365|PMID:36291626|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:737204 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:737204 D RGD:7240710 20180130 OMIM 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:737204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15992656|PMID:16005017|PMID:16020591|PMID:16199542|PMID:16267253|PMID:16274223|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18423659|PMID:18430738|PMID:18533079|PMID:18548271|PMID:19035361|PMID:19289050|PMID:19645627|PMID:19651143|PMID:20031618|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22072597|PMID:22086914|PMID:22301726|PMID:22361390|PMID:22386593|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22675533|PMID:22765922|PMID:22857948|PMID:22876777|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23540544|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24973218|PMID:25132132|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25940119|PMID:25961037|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26914223|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31006259|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31983221|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32758068|PMID:32830170|PMID:32885985|PMID:33029862|PMID:33407484|PMID:33487615|PMID:3349559|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33906374|PMID:34036930|PMID:34137518|PMID:34286374|PMID:34363016|PMID:35470680|PMID:35470684|PMID:35535697|PMID:35626289|PMID:35653365|PMID:35838873|PMID:36252119|PMID:36291626|PMID:36411388|PMID:36981019|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:737204 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18403758|PMID:19645627|PMID:20035081|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25326637|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:737204 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18403758|PMID:19645627|PMID:20035081|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34286374|PMID:35535697|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:737204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1N PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18403758|PMID:19645627|PMID:20035081|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33029862|PMID:33407484|PMID:33487615|PMID:3349559|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34036930|PMID:34137518|PMID:34286374|PMID:34363016|PMID:35470680|PMID:35535697|PMID:35838873|PMID:36252119|PMID:36291626|PMID:36981019|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:737204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:28492532 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:28492532 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:737204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11735257|PMID:18006163|PMID:18467357|PMID:18533079|PMID:20057144|PMID:24033266|PMID:25741868|PMID:26688388|PMID:28492532|PMID:31568572|PMID:34036930|PMID:34213952|PMID:34286374|PMID:35050212|PMID:35838873|PMID:36129056|PMID:36981019|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110459 dilated cardiomyopathy 1FF ISO RGD:737204 D RGD:7240710 20180130 OMIM 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110459 dilated cardiomyopathy 1FF ISO RGD:737204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18403758|PMID:19590045|PMID:19645627|PMID:20035081|PMID:20086309|PMID:20350521|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33029862|PMID:33407484|PMID:33487615|PMID:3349559|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34036930|PMID:34137518|PMID:34286374|PMID:34363016|PMID:35470680|PMID:35535697|PMID:35838873|PMID:36252119|PMID:36291626|PMID:36981019|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:737204 D RGD:7240710 20180130 OMIM 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:737204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16199547|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18408133|PMID:18423659|PMID:18467357|PMID:18533079|PMID:19289050|PMID:19449150|PMID:19590045|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20161772|PMID:20350521|PMID:20641121|PMID:20800588|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22675533|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30279906|PMID:30297972|PMID:30615648|PMID:30847666|PMID:30993396|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:32870709|PMID:33029862|PMID:33407484|PMID:33487615|PMID:3349559|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34036930|PMID:34137518|PMID:34213952|PMID:34286374|PMID:34363016|PMID:35050212|PMID:35470680|PMID:35535697|PMID:35838873|PMID:36129056|PMID:36252119|PMID:36291626|PMID:36981019|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 PMID:24033266|PMID:25741868|PMID:28492532 8911864 Tnni3 troponin I3, cardiac type gene DOID:0110936 nemaline myopathy 5A ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 8911864 Tnni3 troponin I3, cardiac type gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:737204 D RGD:7240710 20180130 OMIM 8911864 Tnni3 troponin I3, cardiac type gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:737204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16288990|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:17576681|PMID:17599605|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18408133|PMID:18409188|PMID:18423659|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19645627|PMID:19651143|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20086309|PMID:20161772|PMID:20350521|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22675533|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25326637|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27557662|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28382084|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29661763|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30279906|PMID:30297972|PMID:30384889|PMID:30615648|PMID:30847666|PMID:31006259|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32182250|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33029862|PMID:33407484|PMID:33429969|PMID:33487615|PMID:3349559|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34036930|PMID:34137518|PMID:34286374|PMID:34363016|PMID:35470680|PMID:35535697|PMID:35838873|PMID:36252119|PMID:36291626|PMID:36981019|PMID:9241277|PMID:9536098 8911864 Tnni3 troponin I3, cardiac type gene DOID:114 heart disease ISO RGD:737204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19549929 8911864 Tnni3 troponin I3, cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10098965|PMID:10731705|PMID:10806205|PMID:11055985|PMID:11121119|PMID:11724573|PMID:11735257|PMID:11801593|PMID:11815426|PMID:11853553|PMID:12044157|PMID:12531876|PMID:12707239|PMID:12746413|PMID:12860912|PMID:12923217|PMID:12974739|PMID:14575308|PMID:15070570|PMID:15201162|PMID:15519027|PMID:15524171|PMID:15607392|PMID:15631686|PMID:15698845|PMID:15718266|PMID:15774859|PMID:15961398|PMID:15992656|PMID:16005017|PMID:16020591|PMID:16199542|PMID:16199547|PMID:16267253|PMID:16274223|PMID:16288990|PMID:16335287|PMID:16352453|PMID:16531415|PMID:17010989|PMID:17027633|PMID:17463320|PMID:17576681|PMID:17599605|PMID:17872964|PMID:17932326|PMID:18006163|PMID:18175163|PMID:18269819|PMID:18403758|PMID:18408133|PMID:18409188|PMID:18414213|PMID:18423659|PMID:18430738|PMID:18467357|PMID:18533079|PMID:18548271|PMID:18801787|PMID:19033660|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19590045|PMID:19645627|PMID:19651143|PMID:19754353|PMID:19914256|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20161772|PMID:20215591|PMID:20350521|PMID:20474083|PMID:20530761|PMID:20569525|PMID:20617149|PMID:20624503|PMID:20641121|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21846512|PMID:21896538|PMID:21967901|PMID:22072597|PMID:22086914|PMID:22112859|PMID:22301726|PMID:22361390|PMID:22386593|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579248|PMID:22579625|PMID:22675533|PMID:22765922|PMID:22857948|PMID:22876777|PMID:22940544|PMID:22958901|PMID:23140321|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23540544|PMID:23610579|PMID:23690394|PMID:23785128|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:24704860|PMID:24793961|PMID:24973218|PMID:25086479|PMID:25132132|PMID:25163546|PMID:25228707|PMID:25239116|PMID:25324519|PMID:25326637|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25558701|PMID:25611685|PMID:25637381|PMID:25685665|PMID:25741868|PMID:25771144|PMID:25940119|PMID:25961037|PMID:26169204|PMID:26199943|PMID:26391394|PMID:26440512|PMID:26506446|PMID:26688388|PMID:26741492|PMID:26914223|PMID:26936621|PMID:27532257|PMID:27557662|PMID:27600940|PMID:27895589|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28255936|PMID:28356264|PMID:28359509|PMID:28382084|PMID:28408708|PMID:28420666|PMID:28436080|PMID:28492532|PMID:28498465|PMID:28615295|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29447731|PMID:29551499|PMID:29661763|PMID:29710196|PMID:29875424|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30279906|PMID:30297972|PMID:30384889|PMID:30385303|PMID:30615648|PMID:30731207|PMID:30847666|PMID:30953456|PMID:30975432|PMID:30993396|PMID:31006259|PMID:31112419|PMID:31333075|PMID:3144325|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31771441|PMID:31877599|PMID:31912959|PMID:31983221|PMID:32182250|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32758068|PMID:32815737|PMID:32830170|PMID:32870709|PMID:32885985|PMID:33019804|PMID:33029862|PMID:33336002|PMID:33407484|PMID:33429969|PMID:33487615|PMID:3349559|PMID:33495596|PMID:33495597|PMID:33658040|PMID:33662488|PMID:33673806|PMID:33777698|PMID:33906374|PMID:34036930|PMID:34137518|PMID:34213952|PMID:34286374|PMID:34363016|PMID:34540771|PMID:35027292|PMID:35050212|PMID:35470680|PMID:35470684|PMID:35535697|PMID:35626289|PMID:35653365|PMID:35838873|PMID:36129056|PMID:36252119|PMID:36291626|PMID:36411388|PMID:36981019|PMID:7592712|PMID:9241277|PMID:9536098 8911864 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18175163|PMID:18414213|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:22464770|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25326637|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25940119|PMID:26440512|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28492532|PMID:28771489|PMID:28790153|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31534214|PMID:31568572|PMID:31877599|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18414213|PMID:18467357|PMID:18533079|PMID:20057144|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:22464770|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28492532|PMID:28771489|PMID:28790153|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18414213|PMID:18467357|PMID:18533079|PMID:20057144|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:22464770|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25351510|PMID:25524337|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28492532|PMID:28771489|PMID:28790153|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32686758|PMID:33407484|PMID:33673806|PMID:34213952|PMID:35050212|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18414213|PMID:18467357|PMID:18533079|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30297972|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32492895|PMID:32686758|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:35050212|PMID:35535697|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18414213|PMID:18467357|PMID:18533079|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30297972|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:35050212|PMID:35535697|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10806205|PMID:11735257|PMID:11815426|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18414213|PMID:18467357|PMID:18533079|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20350521|PMID:20474083|PMID:20641121|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25326637|PMID:25342278|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:34286374|PMID:35050212|PMID:35535697|PMID:36129056|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18408133|PMID:18414213|PMID:18423659|PMID:18467357|PMID:18533079|PMID:19289050|PMID:19449150|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20641121|PMID:20800588|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22675533|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30279906|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:33407484|PMID:33487615|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34137518|PMID:34213952|PMID:34286374|PMID:35050212|PMID:35535697|PMID:36129056|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:737204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10098965|PMID:10806205|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12707239|PMID:12860912|PMID:12923217|PMID:15070570|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16199547|PMID:16352453|PMID:16531415|PMID:17027633|PMID:17463320|PMID:18006163|PMID:18175163|PMID:18403758|PMID:18408133|PMID:18414213|PMID:18423659|PMID:18467357|PMID:18533079|PMID:19289050|PMID:19449150|PMID:19645627|PMID:20035081|PMID:20057144|PMID:20086309|PMID:20161772|PMID:20350521|PMID:20474083|PMID:20641121|PMID:20800588|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21799269|PMID:21839045|PMID:21896538|PMID:21967901|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22579248|PMID:22675533|PMID:22876777|PMID:22958901|PMID:23270746|PMID:23283745|PMID:23299917|PMID:23610579|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24113344|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25228707|PMID:25324519|PMID:25342278|PMID:25351510|PMID:25440410|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26688388|PMID:26741492|PMID:26914223|PMID:27532257|PMID:27600940|PMID:28138913|PMID:28166811|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28436080|PMID:28492532|PMID:28771489|PMID:28790153|PMID:29121657|PMID:29141175|PMID:29176140|PMID:29203298|PMID:29255176|PMID:29551499|PMID:29907873|PMID:30105547|PMID:30165862|PMID:30279906|PMID:30297972|PMID:30615648|PMID:30847666|PMID:31006259|PMID:31333075|PMID:3144325|PMID:31513939|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31877599|PMID:31912959|PMID:32458740|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32830170|PMID:32870709|PMID:33029862|PMID:33407484|PMID:33487615|PMID:3349559|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34036930|PMID:34137518|PMID:34213952|PMID:34286374|PMID:34363016|PMID:35050212|PMID:35470680|PMID:35535697|PMID:35838873|PMID:36129056|PMID:36252119|PMID:36291626|PMID:36981019|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:2843 long QT syndrome ISO RGD:737204 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:22464770|PMID:24033266|PMID:24503780|PMID:25524337|PMID:25741868|PMID:26440512|PMID:27532257|PMID:28492532 8911864 Tnni3 troponin I3, cardiac type gene DOID:3191 nemaline myopathy ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:24033266|PMID:25741868|PMID:28492532 8911864 Tnni3 troponin I3, cardiac type gene DOID:3393 coronary artery disease ISO RGD:737204 D RGD:9068941 20200609 RGD PMID:12221049|REF_RGD_ID:1580780 8911864 Tnni3 troponin I3, cardiac type gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:18414213|PMID:20474083|PMID:21310275|PMID:21511876|PMID:22876777|PMID:23967088|PMID:24033266|PMID:24503780|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:26440512|PMID:28492532|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:397 restrictive cardiomyopathy ISO RGD:737204 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:10098965|PMID:11735257|PMID:11815426|PMID:12531876|PMID:12746413|PMID:12860912|PMID:15524171|PMID:15607392|PMID:15698845|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16199542|PMID:16288990|PMID:16531415|PMID:17027633|PMID:17463320|PMID:17599605|PMID:18175163|PMID:18269819|PMID:18408133|PMID:18409188|PMID:18414213|PMID:18423659|PMID:18801787|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19651143|PMID:20031602|PMID:20031618|PMID:20035081|PMID:20161772|PMID:20474083|PMID:20569525|PMID:20617149|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21511876|PMID:21533915|PMID:21777381|PMID:21839045|PMID:22675533|PMID:23283745|PMID:23906401|PMID:23967088|PMID:24033266|PMID:24111713|PMID:24474965|PMID:24503780|PMID:24510615|PMID:25132132|PMID:25324519|PMID:25440410|PMID:25611685|PMID:25741868|PMID:25940119|PMID:26440512|PMID:26741492|PMID:27532257|PMID:27557662|PMID:27895589|PMID:28255936|PMID:28382084|PMID:28408708|PMID:28492532|PMID:28615295|PMID:29176140|PMID:29255176|PMID:29661763|PMID:29710196|PMID:29907873|PMID:30279906|PMID:31333075|PMID:31568572|PMID:31737537|PMID:31912959|PMID:33336002|PMID:35653365|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:5844 myocardial infarction ISO RGD:737204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359538 8911864 Tnni3 troponin I3, cardiac type gene DOID:630 genetic disease ISO RGD:737204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8911864 Tnni3 troponin I3, cardiac type gene DOID:820 myocarditis ISO RGD:737204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myocarditis PMID:11735257|PMID:18006163|PMID:18467357|PMID:18533079|PMID:20057144|PMID:24033266|PMID:25741868|PMID:26688388|PMID:28492532|PMID:31568572|PMID:34036930|PMID:34213952|PMID:34286374|PMID:35050212|PMID:35838873|PMID:36129056|PMID:36981019|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:9000299 cardiac amyloidosis ISO RGD:737204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:21310275|PMID:23967088|PMID:24033266|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:28492532 8911864 Tnni3 troponin I3, cardiac type gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:15774859|PMID:17010989|PMID:17872964|PMID:23690394|PMID:24033266|PMID:25741868|PMID:26936621|PMID:27532257|PMID:28492532|PMID:30731207|PMID:34540771|PMID:7592712 8911864 Tnni3 troponin I3, cardiac type gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:11815426|PMID:12860912|PMID:15524171|PMID:15607392|PMID:18175163|PMID:21310275|PMID:23967088|PMID:24033266|PMID:24510615|PMID:25324519|PMID:25741868|PMID:25940119|PMID:28492532 8911864 Tnni3 troponin I3, cardiac type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 8911864 Tnni3 troponin I3, cardiac type gene DOID:9007 sudden infant death syndrome ISO RGD:737204 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:10098965|PMID:11735257|PMID:12531876|PMID:12707239|PMID:12746413|PMID:15607392|PMID:15961398|PMID:15992656|PMID:16020591|PMID:16288990|PMID:16531415|PMID:17027633|PMID:17463320|PMID:17599605|PMID:18269819|PMID:18408133|PMID:18409188|PMID:18423659|PMID:19035361|PMID:19289050|PMID:19449150|PMID:19651143|PMID:20031602|PMID:20161772|PMID:20800588|PMID:21239446|PMID:21310275|PMID:21533915|PMID:21839045|PMID:22301726|PMID:22675533|PMID:23283745|PMID:23906401|PMID:24033266|PMID:24111713|PMID:24474965|PMID:25132132|PMID:25440410|PMID:25611685|PMID:25741868|PMID:26169204|PMID:26741492|PMID:27532257|PMID:27557662|PMID:28382084|PMID:28492532|PMID:29176140|PMID:29661763|PMID:29907873|PMID:30279906|PMID:31912959|PMID:35027292|PMID:9241277 8911864 Tnni3 troponin I3, cardiac type gene DOID:9007096 Stroke ISO RGD:737204 D RGD:9068941 20200609 RGD PMID:15604421|REF_RGD_ID:1580421 8911864 Tnni3 troponin I3, cardiac type gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:62344 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 8911864 Tnni3 troponin I3, cardiac type gene DOID:9007925 Sudden Cardiac Death ISO RGD:737204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest PMID:21839045|PMID:25741868 8911864 Tnni3 troponin I3, cardiac type gene DOID:9562 primary ciliary dyskinesia ISO RGD:737204 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:22387996|PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 8911879 LOC102006100 TIR domain-containing adapter molecule 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2837468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8911879 LOC102006100 TIR domain-containing adapter molecule 2 gene DOID:12849 autistic disorder ISO RGD:2837468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8911879 LOC102006100 TIR domain-containing adapter molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2837468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8911879 LOC102006100 TIR domain-containing adapter molecule 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2837468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8911906 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:1059 intellectual disability ISO RGD:1323726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8911906 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:5082 liver cirrhosis ISO RGD:1323726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8911906 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:630 genetic disease ISO RGD:1323726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8911906 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8911906 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323726 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8911906 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1323726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8911906 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1323726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8911906 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8911906 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1323726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:16973841|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 8911906 Unc93b1 unc-93 homolog B1, TLR signaling regulator gene DOID:9009070 Herpes Simplex Encephalitis 1 susceptibility ISO RGD:1323726 D RGD:7240710 20190502 OMIM 8911931 Nbn nibrin gene DOID:0014667 disease of metabolism ISO RGD:1348611 D RGD:9068941 20200609 RGD Nijmegen breakage syndrome, OMIM:251260, DNA:deletion:exon:nt657del5 PMID:9590180|REF_RGD_ID:1600219 8911931 Nbn nibrin gene DOID:0050453 lissencephaly ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1348611 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:16415040|PMID:28492532|PMID:9590180 8911931 Nbn nibrin gene DOID:0080600 COVID-19 ISO RGD:1348611 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8911931 Nbn nibrin gene DOID:10283 prostate cancer ISO RGD:1348611 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:23555315|PMID:25741868|PMID:26467025|PMID:26976419|PMID:27148588|PMID:27443514|PMID:28492532|PMID:29522266|PMID:30287823|PMID:33471991|PMID:36346689 8911931 Nbn nibrin gene DOID:10283 prostate cancer susceptibility ISO RGD:1348611 D RGD:9068941 20200609 RGD DNA:deletion, loss of heterozygosity PMID:14973119|REF_RGD_ID:2298995 8911931 Nbn nibrin gene DOID:10534 stomach cancer ISO RGD:1348611 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:11279524|PMID:12433983|PMID:12708449|PMID:15048089|PMID:15758953|PMID:15964794|PMID:16199547|PMID:16415040|PMID:19105185|PMID:21035407|PMID:24033266|PMID:24763289|PMID:24894818|PMID:25741868|PMID:26689913|PMID:26786923|PMID:26976419|PMID:28492532|PMID:29625052|PMID:30287823|PMID:31214711|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32963463|PMID:33471991|PMID:36988593|PMID:9590180 8911931 Nbn nibrin gene DOID:10652 Alzheimer's disease ISO RGD:1348611 D RGD:9068941 20200609 RGD PMID:15337312|REF_RGD_ID:2317734 8911931 Nbn nibrin gene DOID:10907 microcephaly ISO RGD:1348611 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:12449 aplastic anemia ISO RGD:1348611 D RGD:7240710 20180130 OMIM 8911931 Nbn nibrin gene DOID:12449 aplastic anemia ISO RGD:1348611 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12708449|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15964794|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18940477|PMID:19105185|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21035407|PMID:21212067|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22864661|PMID:22941933|PMID:23149842|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24763289|PMID:24830725|PMID:24894818|PMID:25186627|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27109316|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28726808|PMID:28727877|PMID:28801450|PMID:28873162|PMID:28888541|PMID:29093764|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29785153|PMID:29915322|PMID:29922827|PMID:30130155|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30541756|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30980208|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31278556|PMID:31422574|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31874108|PMID:31911633|PMID:32068069|PMID:32191290|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32782288|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32936981|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33309985|PMID:33471974|PMID:33471991|PMID:33630411|PMID:33646313|PMID:33652732|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34204722|PMID:34251444|PMID:34284872|PMID:34326862|PMID:34544220|PMID:34964003|PMID:34994648|PMID:35186721|PMID:35245693|PMID:35264596|PMID:35309086|PMID:35467778|PMID:35654374|PMID:35739269|PMID:36346689|PMID:36451132|PMID:36988593|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:1520 colon carcinoma ISO RGD:1348611 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:11325820|PMID:14559852|PMID:15338273|PMID:16474176|PMID:16810201|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19813148|PMID:19908051|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22373003|PMID:23317186|PMID:23555315|PMID:24093751|PMID:24113799|PMID:24728327|PMID:24830725|PMID:25619955|PMID:25712764|PMID:25741868|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:29335925|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:31159747|PMID:32566746|PMID:34284872|PMID:35264596 8911931 Nbn nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:33095795|PMID:33471991|PMID:9590180|PMID:9620777 8911931 Nbn nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:34646395|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29758565|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:32295079|PMID:32566746|PMID:32668560|PMID:32885271|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:34646395|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:1612 breast cancer ISO RGD:1348611 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12505263|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15474156|PMID:16033915|PMID:16415040|PMID:16544999|PMID:16770759|PMID:16810201|PMID:17103455|PMID:17496786|PMID:17894553|PMID:18003706|PMID:18606567|PMID:18940477|PMID:19452044|PMID:19584272|PMID:19635536|PMID:19804756|PMID:19908051|PMID:20444919|PMID:20805886|PMID:21302341|PMID:21664921|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22864661|PMID:22941933|PMID:23149842|PMID:23317186|PMID:23525077|PMID:23555315|PMID:24033266|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24728327|PMID:24894818|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25637381|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27150568|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28374160|PMID:28492532|PMID:28528518|PMID:28717660|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29371908|PMID:29419426|PMID:29458332|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29758565|PMID:29922827|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30541756|PMID:30942098|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31278556|PMID:31422574|PMID:31780696|PMID:31874108|PMID:31911633|PMID:32295079|PMID:32566746|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32885271|PMID:33050356|PMID:33095795|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:34646395|PMID:34964003|PMID:35264596|PMID:35309086|PMID:35739269|PMID:36346689|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:1612 breast cancer disease_progression ISO RGD:1348611 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17337132|REF_RGD_ID:2298993 8911931 Nbn nibrin gene DOID:1612 breast cancer susceptibility ISO RGD:1348611 D RGD:9068941 20200609 RGD DNA:SNP PMID:17932350|REF_RGD_ID:2298991 8911931 Nbn nibrin gene DOID:1612 breast cancer susceptibility ISO RGD:1348611 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.I171V PMID:17899368|REF_RGD_ID:2298992 8911931 Nbn nibrin gene DOID:1993 rectum cancer susceptibility ISO RGD:1348611 D RGD:9068941 20220303 RGD DNA:SNP:3'utr: (rs14448) (human) PMID:26735576|REF_RGD_ID:151361212 8911931 Nbn nibrin gene DOID:2394 ovarian cancer ISO RGD:1348611 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:24349281|PMID:25741868|PMID:26467025|PMID:28135145|PMID:28492532|PMID:30982232|PMID:32885271|PMID:33471991|PMID:34326862 8911931 Nbn nibrin gene DOID:3459 breast carcinoma ISO RGD:1348611 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17103455|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:18606567|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24728327|PMID:24830725|PMID:25485873|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30426508|PMID:30441849|PMID:30590007|PMID:30651582|PMID:30980208|PMID:31159747|PMID:31173646|PMID:32295079|PMID:32566746|PMID:32658311|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34284872|PMID:34544220|PMID:35264596|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:4001 ovarian carcinoma ISO RGD:1348611 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:16415040|PMID:25741868|PMID:28492532|PMID:9590180 8911931 Nbn nibrin gene DOID:4905 pancreatic carcinoma ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:5426 primary ovarian insufficiency ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:16415040|PMID:28492532|PMID:29706645|PMID:9590180 8911931 Nbn nibrin gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:732723 D RGD:9068941 20220825 MouseDO 8911931 Nbn nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10398434|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18049891|PMID:18280732|PMID:18606567|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22941933|PMID:23317186|PMID:23555315|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25186627|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26722329|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27153395|PMID:27616075|PMID:27621404|PMID:28076423|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29522266|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30441849|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:33309985|PMID:33800431|PMID:9536098|PMID:9590180|PMID:9620777 8911931 Nbn nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33800431|PMID:9536098|PMID:9590180|PMID:9620777 8911931 Nbn nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33800431|PMID:34072463|PMID:9536098|PMID:9590180|PMID:9620777 8911931 Nbn nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30306255|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33309985|PMID:33471974|PMID:33471991|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30306255|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33309985|PMID:33471974|PMID:33471991|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30306255|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33309985|PMID:33471974|PMID:33471991|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34284872|PMID:34544220|PMID:34994648|PMID:35309086|PMID:36451132|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348611 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14559852|PMID:14973119|PMID:15185344|PMID:15279809|PMID:15338273|PMID:16033915|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16810201|PMID:17001621|PMID:17103455|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18281469|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19635536|PMID:19813148|PMID:19908051|PMID:20444919|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26722329|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29419426|PMID:29522266|PMID:29625052|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30306255|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30651582|PMID:30942098|PMID:30982232|PMID:31159747|PMID:31173646|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32906206|PMID:32959997|PMID:32980694|PMID:33050356|PMID:33309985|PMID:33471974|PMID:33471991|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34284872|PMID:34439939|PMID:34544220|PMID:34994648|PMID:35264596|PMID:35309086|PMID:36346689|PMID:36451132|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:630 genetic disease ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8911931 Nbn nibrin gene DOID:684 hepatocellular carcinoma ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:7240710 20180130 OMIM 8911931 Nbn nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ataxia telangiectasia variant V1 | ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency | ClinVar Annotator: match by term: Seemanova syndrome 2 PMID:10398434|PMID:10792024|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12419185|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279770|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17384674|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19763152|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20307669|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22406018|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23265383|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25640679|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28076792|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29706558|PMID:29706645|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30130155|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30541756|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30777372|PMID:30875412|PMID:30942098|PMID:30952868|PMID:30980208|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:31911633|PMID:32068069|PMID:32191290|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32936981|PMID:32945065|PMID:32959997 8911931 Nbn nibrin gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1348611 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ataxia telangiectasia variant V1 | ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency | ClinVar Annotator: match by term: Seemanova syndrome 2 PMID:32963463|PMID:32980694|PMID:33046446|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33646313|PMID:33652732|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34251444|PMID:34284872|PMID:34326862|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395|PMID:34964003|PMID:34994648|PMID:35186721|PMID:35245693|PMID:35264596|PMID:35309086|PMID:35467778|PMID:35654374|PMID:35739269|PMID:36346689|PMID:36451132|PMID:36988593|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1348611 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:24033266|PMID:24113799|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28492532|PMID:28873162|PMID:29368341|PMID:29419426|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14973119|PMID:25415046 8911931 Nbn nibrin gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1348611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25415046 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12833396|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17429352|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31874108|PMID:32068069|PMID:32295079|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32945065|PMID:32980694|PMID:33095795|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33800431|PMID:34072463|PMID:3802554|PMID:9536098|PMID:9590180|PMID:9620777 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398434|PMID:10799436|PMID:10839544|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:23765759|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28873162|PMID:28888541|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32906206|PMID:32945065|PMID:32980694|PMID:33095795|PMID:33309985|PMID:33359728|PMID:33471991|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34169133|PMID:34204722|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9620777 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:35309086|PMID:35467778|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:35309086|PMID:35467778|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395|PMID:35309086|PMID:35467778|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33646313|PMID:33652732|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:35309086|PMID:35467778|PMID:36346689|PMID:36988593|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34646395|PMID:34994648|PMID:35309086|PMID:35467778|PMID:36346689|PMID:36451132|PMID:36988593|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15451479|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18575580|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:32068069|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32658311|PMID:32668560|PMID:32832836|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33646313|PMID:33652732|PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34284872|PMID:34350294|PMID:34426522|PMID:34439939|PMID:34544220 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:34646395|PMID:34994648|PMID:35264596|PMID:35309086|PMID:35467778|PMID:36346689|PMID:36451132|PMID:36988593|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398434|PMID:10799436|PMID:10839544|PMID:10848790|PMID:10852373|PMID:11062235|PMID:11093281|PMID:11279524|PMID:11288710|PMID:11325820|PMID:11952644|PMID:11953735|PMID:12123493|PMID:12353271|PMID:12376507|PMID:12427538|PMID:12433983|PMID:12447395|PMID:12505263|PMID:12621246|PMID:12679336|PMID:12708449|PMID:12833396|PMID:12845677|PMID:12861053|PMID:14559852|PMID:14684699|PMID:14707289|PMID:14973119|PMID:15048089|PMID:15185344|PMID:15279809|PMID:15338273|PMID:15474156|PMID:15593232|PMID:15758953|PMID:15964794|PMID:16033915|PMID:16152606|PMID:16188882|PMID:16199547|PMID:16415040|PMID:16474176|PMID:16544999|PMID:16702373|PMID:16770759|PMID:16810201|PMID:16998789|PMID:17001621|PMID:17103455|PMID:17496786|PMID:17576681|PMID:17695489|PMID:17894553|PMID:17899368|PMID:17957789|PMID:18003706|PMID:18023021|PMID:18049891|PMID:18056440|PMID:18073374|PMID:18280732|PMID:18281469|PMID:18328813|PMID:18566737|PMID:18593981|PMID:18606567|PMID:18612309|PMID:18638378|PMID:18940477|PMID:19105185|PMID:19151620|PMID:19393249|PMID:19409520|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19629396|PMID:19635536|PMID:19804755|PMID:19804756|PMID:19813148|PMID:19908051|PMID:20232390|PMID:20444919|PMID:20805886|PMID:20981092|PMID:21035407|PMID:21212067|PMID:21302341|PMID:21520333|PMID:21664921|PMID:21698754|PMID:22006311|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22841127|PMID:22864661|PMID:22941933|PMID:22995991|PMID:23149842|PMID:23317186|PMID:23458873|PMID:23525077|PMID:23555315|PMID:23720301|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24349281|PMID:24396275|PMID:24549055|PMID:24556621|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24830725|PMID:24894818|PMID:24928521|PMID:25117502|PMID:25186627|PMID:25239263|PMID:25318351|PMID:25326637|PMID:25485873|PMID:25503501|PMID:25619955|PMID:25637381|PMID:25677497|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26092435|PMID:2625251|PMID:26265251|PMID:26270727|PMID:26315354|PMID:26467025|PMID:26512707|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26722329|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26898890|PMID:26929905|PMID:26934577|PMID:26976419|PMID:26979391|PMID:27028851|PMID:27060854|PMID:27109316|PMID:27148588|PMID:27149842|PMID:27150568|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27616075|PMID:27621404|PMID:27878467|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28261280|PMID:28374160|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28717660|PMID:28726808|PMID:28727877|PMID:28796236|PMID:28801450|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29093764|PMID:29173497|PMID:29300386|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29419426|PMID:29458332|PMID:29470806|PMID:29484706|PMID:29506128|PMID:2952226|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29706558|PMID:29758565|PMID:29785153|PMID:29915322|PMID:29922827|PMID:29929473|PMID:30130155|PMID:30256826|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30541756|PMID:30564542|PMID:30590007|PMID:30612635|PMID:30613976|PMID:30651582|PMID:30777372|PMID:30942098|PMID:30982232|PMID:30995915|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31273614|PMID:31278556|PMID:31415627|PMID:31422574|PMID:31512090|PMID:31666926|PMID:31729086|PMID:31742824|PMID:31780696|PMID:31871109|PMID:31874108|PMID:31911633|PMID:32068069|PMID:32191290|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32668560|PMID:32782288|PMID:32832836|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32936981|PMID:32945065|PMID:32959997|PMID:32963463|PMID:32980694|PMID:33046446|PMID:33050356|PMID:33095795|PMID:33206719|PMID:33309985|PMID:33359728|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33646313|PMID:33652732 8911931 Nbn nibrin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348611 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33800431|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34169133|PMID:34204722|PMID:34251444|PMID:34284872|PMID:34326862|PMID:34426522|PMID:34439939|PMID:34544220|PMID:34646395|PMID:34964003|PMID:34994648|PMID:35186721|PMID:35245693|PMID:35264596|PMID:35309086|PMID:35467778|PMID:35654374|PMID:35739269|PMID:36346689|PMID:36451132|PMID:36988593|PMID:3802554|PMID:9523210|PMID:9536098|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:9008952 Breast Cancer, Familial ISO RGD:1348611 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10398434|PMID:10799436|PMID:10848790|PMID:10852373|PMID:11093281|PMID:11279524|PMID:11953735|PMID:12123493|PMID:12505263|PMID:12833396|PMID:12845677|PMID:14973119|PMID:15185344|PMID:15279809|PMID:16033915|PMID:16415040|PMID:16544999|PMID:17103455|PMID:18606567|PMID:18940477|PMID:19635536|PMID:19908051|PMID:20444919|PMID:20805886|PMID:22131123|PMID:22293976|PMID:22373003|PMID:22491912|PMID:22941933|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24113799|PMID:25186627|PMID:25485873|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26822949|PMID:26845104|PMID:27150568|PMID:27616075|PMID:28135145|PMID:28492532|PMID:28726808|PMID:28873162|PMID:29300386|PMID:29368341|PMID:29419426|PMID:30374176|PMID:30426508|PMID:31173646|PMID:32295079|PMID:33050356|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33840814|PMID:34072463|PMID:34072659|PMID:34544220|PMID:35309086|PMID:9590180|PMID:9590181|PMID:9620777 8911931 Nbn nibrin gene DOID:9637 stomatitis ISO RGD:1348611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24594932 8911931 Nbn nibrin gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348611 D RGD:7240710 20230505 OMIM 8911931 Nbn nibrin gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348611 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to | ClinVar Annotator: match by term: Lymphoblastic leukemia PMID:11325820|PMID:12353271|PMID:14559852|PMID:15338273|PMID:16415040|PMID:16474176|PMID:16810201|PMID:17001621|PMID:17695489|PMID:17894553|PMID:17899368|PMID:18023021|PMID:18049891|PMID:18280732|PMID:18612309|PMID:18638378|PMID:19393249|PMID:19452044|PMID:19523210|PMID:19584272|PMID:19813148|PMID:19908051|PMID:21212067|PMID:21302341|PMID:21698754|PMID:22131123|PMID:22373003|PMID:22841127|PMID:22864661|PMID:22995991|PMID:23317186|PMID:23555315|PMID:24033266|PMID:24093751|PMID:24113799|PMID:24549055|PMID:24728327|PMID:24830725|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25503501|PMID:25619955|PMID:25712764|PMID:25741868|PMID:25980754|PMID:26083025|PMID:26315354|PMID:26467025|PMID:26722329|PMID:26787654|PMID:26898890|PMID:27153395|PMID:27616075|PMID:27621404|PMID:27978560|PMID:28076423|PMID:28135145|PMID:28261280|PMID:28376765|PMID:28492532|PMID:28528518|PMID:28591191|PMID:28726808|PMID:28888541|PMID:29335925|PMID:29522266|PMID:29615459|PMID:29678143|PMID:29785153|PMID:30287823|PMID:30306255|PMID:30441849|PMID:30590007|PMID:30651582|PMID:30982232|PMID:31159747|PMID:31415627|PMID:31666926|PMID:32068069|PMID:32427313|PMID:32566746|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33800431|PMID:34072463|PMID:34284872|PMID:35264596|PMID:36346689|PMID:9590180 8911970 Gpcpd1 glycerophosphocholine phosphodiesterase 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1606261 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8911970 Gpcpd1 glycerophosphocholine phosphodiesterase 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1606261 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8911970 Gpcpd1 glycerophosphocholine phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1606261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8911970 Gpcpd1 glycerophosphocholine phosphodiesterase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25482527 8912019 Orai2 ORAI calcium release-activated calcium modulator 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8912019 Orai2 ORAI calcium release-activated calcium modulator 2 gene DOID:630 genetic disease ISO RGD:1320982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912037 Snrpd2 small nuclear ribonucleoprotein D2 polypeptide gene DOID:630 genetic disease ISO RGD:1312873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912037 Snrpd2 small nuclear ribonucleoprotein D2 polypeptide gene DOID:9074 systemic lupus erythematosus ISO RGD:1312873 D RGD:9068941 20200609 RGD PMID:11823543|REF_RGD_ID:10766471 8912044 Fbxo11 F-box protein 11 gene DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:19250818|PMID:24689082|PMID:25741868|PMID:26467025|PMID:28492532 8912044 Fbxo11 F-box protein 11 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 8912044 Fbxo11 F-box protein 11 gene DOID:10534 stomach cancer ISO RGD:1348534 D RGD:9068941 20220505 RGD protein:increased expression:stomach (human) PMID:31829474|REF_RGD_ID:152025261 8912044 Fbxo11 F-box protein 11 gene DOID:10534 stomach cancer exacerbates ISO RGD:1348534 D RGD:9068941 20220505 RGD mRNA, protein:increased expression:stomach (human) PMID:29278851|REF_RGD_ID:152025260 8912044 Fbxo11 F-box protein 11 gene DOID:1059 intellectual disability ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8912044 Fbxo11 F-box protein 11 gene DOID:10754 otitis media ISO RGD:1553509 D RGD:9068941 20220825 MouseDO OMIM:166760 8912044 Fbxo11 F-box protein 11 gene DOID:2043 hepatitis B ISO RGD:1348534 D RGD:9068941 20220505 RGD associated with hepatocellular carcinoma;protein:increased expression:liver (human) PMID:29603830|REF_RGD_ID:152025266 8912044 Fbxo11 F-box protein 11 gene DOID:3459 breast carcinoma ameliorates ISO RGD:1348534 D RGD:9068941 20220505 RGD human constructs and cell line in a mouse model PMID:25203322|REF_RGD_ID:152025262 8912044 Fbxo11 F-box protein 11 gene DOID:3883 Lynch syndrome ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18269114|PMID:19250818|PMID:24323032|PMID:24362816|PMID:24689082|PMID:25741868|PMID:26467025|PMID:27620904|PMID:28135145|PMID:28492532 8912044 Fbxo11 F-box protein 11 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1348534 D RGD:9068941 20220505 RGD PMID:31778188|REF_RGD_ID:152025265 8912044 Fbxo11 F-box protein 11 gene DOID:630 genetic disease ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029|PMID:9536098 8912044 Fbxo11 F-box protein 11 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1348534 D RGD:9068941 20220505 RGD mRNA:increased expression:liver (human) PMID:32657545|REF_RGD_ID:152025263 8912044 Fbxo11 F-box protein 11 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1348534 D RGD:9068941 20220505 RGD mRNA:increased expression:liver (human) PMID:29518611|REF_RGD_ID:152025259 8912044 Fbxo11 F-box protein 11 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1348534 D RGD:9068941 20220505 RGD protein:increased expression:liver (human) PMID:29603830|REF_RGD_ID:152025266 8912044 Fbxo11 F-box protein 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348534 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24728327|PMID:25741868|PMID:28492532|PMID:28691247|PMID:30057029 8912044 Fbxo11 F-box protein 11 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:30057029 8912044 Fbxo11 F-box protein 11 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:19250818|PMID:24689082|PMID:25741868|PMID:26467025|PMID:28492532 8912044 Fbxo11 F-box protein 11 gene DOID:9008582 Developmental Disease ISO RGD:1348534 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 8912044 Fbxo11 F-box protein 11 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1348534 D RGD:7240710 20190315 OMIM 8912044 Fbxo11 F-box protein 11 gene DOID:9009213 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:28691247|PMID:29796876|PMID:30057029|PMID:30679813|PMID:34505148 8912044 Fbxo11 F-box protein 11 gene DOID:9970 obesity ISO RGD:1348534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 8912073 Disp2 dispatched RND transporter family member 2 gene DOID:2717 Bloom syndrome ISO RGD:1319977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8912073 Disp2 dispatched RND transporter family member 2 gene DOID:630 genetic disease ISO RGD:1319977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912073 Disp2 dispatched RND transporter family member 2 gene DOID:9256 colorectal cancer ISO RGD:1319977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8912089 Celf1 CUGBP Elav-like family member 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1317078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8912089 Celf1 CUGBP Elav-like family member 1 gene DOID:1059 intellectual disability ISO RGD:1317078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8912089 Celf1 CUGBP Elav-like family member 1 gene DOID:630 genetic disease ISO RGD:1317078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:0050957 spinocerebellar ataxia type 4 susceptibility ISO RGD:1319399 D RGD:7240710 20240313 OMIM 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319399 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:0060224 atrial fibrillation ISO RGD:1319399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19597491|PMID:19597492|PMID:22544366|PMID:29892015|PMID:30061737 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:10283 prostate cancer susceptibility ISO RGD:1319399 D RGD:7240710 20240313 OMIM 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:1059 intellectual disability ISO RGD:1319399 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:1612 breast cancer exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD mRNA:decreased expression:breast (human) PMID:33217982|REF_RGD_ID:151361167 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:2048 autoimmune hepatitis ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:blood serum (human) PMID:20534899|REF_RGD_ID:151361169 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:3030 mucinous adenocarcinoma ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:colon, nucleus, cytoplasm (human) PMID:28713972|REF_RGD_ID:151361166 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1319399 D RGD:9068941 20200609 RGD PMID:15671546|REF_RGD_ID:2315696 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1319399 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:32653938|REF_RGD_ID:151361163 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:23144151|REF_RGD_ID:151361164 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1319399 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:32653938|REF_RGD_ID:151361163 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:4362 cervical cancer ISO RGD:1319399 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:11812077|REF_RGD_ID:2315697 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:4929 tubular adenocarcinoma exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:colon, nucleus, cytoplasm (human) PMID:28713972|REF_RGD_ID:151361166 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:630 genetic disease ISO RGD:1319399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1319399 D RGD:9068941 20220303 RGD associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human) PMID:20534899|REF_RGD_ID:151361169 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1319399 D RGD:9068941 20220303 RGD human cell line in a mouse model PMID:32277050|REF_RGD_ID:151361162 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:687 hepatoblastoma ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:liver (human) PMID:33368532|REF_RGD_ID:151361168 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:1319399 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD brain metastasis associated with lung adenocarcinoma;DNA:mutations:multiple (human) PMID:33479213|REF_RGD_ID:151361170 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1319399 D RGD:9068941 20240111 CTD CTD Direct Evidence: marker/mechanism 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16637072|PMID:17013881|PMID:29610475 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319399 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30559488 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:9004762 Familial Atrial Fibrillation 8 ISO RGD:1319399 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 8 PMID:37449401 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:9004762 Familial Atrial Fibrillation 8 susceptibility ISO RGD:1319399 D RGD:7240710 20240313 OMIM 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:9007096 Stroke ISO RGD:1319399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:9007661 Dwarfism ISO RGD:1319399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1319399 D RGD:9068941 20220303 RGD protein:increased expression:blood serum (human) PMID:20534899|REF_RGD_ID:151361169 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1319399 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:colorectum (human) PMID:27435776|REF_RGD_ID:151361165 8912127 Zfhx3 zinc finger homeobox 3 gene DOID:9970 obesity ISO RGD:1319399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 8912141 Nrn1l neuritin 1 like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8912141 Nrn1l neuritin 1 like gene DOID:630 genetic disease ISO RGD:1605881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912148 Sema4a semaphorin 4A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8912148 Sema4a semaphorin 4A gene DOID:0050572 cone-rod dystrophy ISO RGD:1312188 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:25741868|PMID:28492532 8912148 Sema4a semaphorin 4A gene DOID:0110357 retinitis pigmentosa 35 ISO RGD:1312188 D RGD:7240710 20180130 OMIM 8912148 Sema4a semaphorin 4A gene DOID:0110357 retinitis pigmentosa 35 ISO RGD:1312188 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 35 PMID:16199541|PMID:22956603|PMID:23360997|PMID:24033266|PMID:25307848|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28805479|PMID:32483926 8912148 Sema4a semaphorin 4A gene DOID:0111017 cone-rod dystrophy 10 ISO RGD:1312188 D RGD:7240710 20180130 OMIM 8912148 Sema4a semaphorin 4A gene DOID:0111017 cone-rod dystrophy 10 ISO RGD:1312188 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 10 PMID:16199541|PMID:22956603|PMID:23360997|PMID:24033266|PMID:25307848|PMID:25637381|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28805479|PMID:32483926 8912148 Sema4a semaphorin 4A gene DOID:0111228 Sveinsson chorioretinal atrophy ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration PMID:25741868 8912148 Sema4a semaphorin 4A gene DOID:0111940 immunodeficiency 42 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8912148 Sema4a semaphorin 4A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8912148 Sema4a semaphorin 4A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8912148 Sema4a semaphorin 4A gene DOID:10584 retinitis pigmentosa ISO RGD:1312188 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199541|PMID:23360997|PMID:24033266|PMID:25307848|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28805479|PMID:32483926 8912148 Sema4a semaphorin 4A gene DOID:1540 parathyroid carcinoma ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8912148 Sema4a semaphorin 4A gene DOID:5812 MHC class II deficiency ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8912148 Sema4a semaphorin 4A gene DOID:630 genetic disease ISO RGD:1312188 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8912148 Sema4a semaphorin 4A gene DOID:8501 fundus dystrophy ISO RGD:1312188 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26103963|PMID:28492532|PMID:32483926 8912148 Sema4a semaphorin 4A gene DOID:9004271 Colonic Polyps ISO RGD:1312188 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:25637381|PMID:25741868|PMID:28492532 8912148 Sema4a semaphorin 4A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1312188 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33290778 8912148 Sema4a semaphorin 4A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8912148 Sema4a semaphorin 4A gene DOID:9256 colorectal cancer ISO RGD:1312188 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25637381|PMID:25741868|PMID:28492532 8912186 Nr6a1 nuclear receptor subfamily 6 group A member 1 gene DOID:630 genetic disease ISO RGD:1345014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912222 Dbx2 developing brain homeobox 2 gene DOID:630 genetic disease ISO RGD:1605171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912229 Xpo1 exportin 1 gene DOID:0060224 atrial fibrillation ISO RGD:735365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8912229 Xpo1 exportin 1 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:735365 D RGD:9068941 20220407 RGD protein:increased expression:colorectum (human) PMID:31870117|REF_RGD_ID:151665794 8912229 Xpo1 exportin 1 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:735365 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:28492532 8912229 Xpo1 exportin 1 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:26619011 8912229 Xpo1 exportin 1 gene DOID:10534 stomach cancer ameliorates ISO RGD:735365 D RGD:9068941 20220407 RGD protein:increased expression:stomach (human) PMID:31569391|REF_RGD_ID:151665793 8912229 Xpo1 exportin 1 gene DOID:10534 stomach cancer exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD protein:increased expression:stomach (human) PMID:27714846|REF_RGD_ID:151667434 8912229 Xpo1 exportin 1 gene DOID:13938 amenorrhea ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8912229 Xpo1 exportin 1 gene DOID:1793 pancreatic cancer exacerbates ISO RGD:735365 D RGD:9068941 20220407 RGD protein:increased expression:pancreas (human) PMID:20003838|REF_RGD_ID:151665797 8912229 Xpo1 exportin 1 gene DOID:1826 epilepsy ISO RGD:735365 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8912229 Xpo1 exportin 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:26619011 8912229 Xpo1 exportin 1 gene DOID:363 uterine cancer ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 8912229 Xpo1 exportin 1 gene DOID:3717 gastric adenocarcinoma ameliorates ISO RGD:735365 D RGD:9068941 20220407 RGD human cell line in a mouse model PMID:30115935|REF_RGD_ID:151665802 8912229 Xpo1 exportin 1 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD protein:decreased expression:stomach (human) PMID:28373767|REF_RGD_ID:151667432 8912229 Xpo1 exportin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735365 D RGD:9068941 20220408 RGD mRNA, protein:increased expression:epithelium of esophagus (human) PMID:24898882|REF_RGD_ID:151667431 8912229 Xpo1 exportin 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD protein:increased expression:esophagus (human) PMID:25148895|REF_RGD_ID:151667436 8912229 Xpo1 exportin 1 gene DOID:3905 lung carcinoma ameliorates ISO RGD:732925 D RGD:9068941 20220408 RGD human cell line in a mouse model PMID:25629636|REF_RGD_ID:11058563 8912229 Xpo1 exportin 1 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:735365 D RGD:9068941 20220407 RGD human cell line in a mouse model PMID:31113936|REF_RGD_ID:151665798 8912229 Xpo1 exportin 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735365 D RGD:9068941 20220408 RGD human cell line in a mouse model PMID:24946002|REF_RGD_ID:151667438 8912229 Xpo1 exportin 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220407 RGD circRNA:increased expression:lung (human) PMID:33268793|REF_RGD_ID:151665799 8912229 Xpo1 exportin 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220407 RGD mRNA:increased expression:lung (human) PMID:23639940|REF_RGD_ID:151665801 8912229 Xpo1 exportin 1 gene DOID:4682 extrahepatic bile duct carcinoma disease_progression ISO RGD:735365 D RGD:9068941 20220407 RGD protein:increased expression:extrahepatic bile duct (human) PMID:27279267|REF_RGD_ID:151665800 8912229 Xpo1 exportin 1 gene DOID:5419 schizophrenia ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8912229 Xpo1 exportin 1 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD protein:increased expression:stomach (human) PMID:24026662|REF_RGD_ID:151667437 8912229 Xpo1 exportin 1 gene DOID:630 genetic disease ISO RGD:735365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912229 Xpo1 exportin 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:735365 D RGD:9068941 20220407 RGD human cell line in a mouse model PMID:25030088|REF_RGD_ID:151665796 8912229 Xpo1 exportin 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:735365 D RGD:9068941 20220408 RGD mRNA:increased expression:liver (human) PMID:31371628|REF_RGD_ID:151667441 8912229 Xpo1 exportin 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620517 D RGD:9068941 20220408 RGD PMID:27013579|REF_RGD_ID:151667433 8912229 Xpo1 exportin 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:26619011 8912229 Xpo1 exportin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8912229 Xpo1 exportin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 8912229 Xpo1 exportin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 8912229 Xpo1 exportin 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:735365 D RGD:9068941 20220408 RGD human cell line in a mouse model PMID:26603256|PMID:33745946|REF_RGD_ID:151665795|REF_RGD_ID:151667439 8912261 Tsga10ip testis specific 10 interacting protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1346501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8912261 Tsga10ip testis specific 10 interacting protein gene DOID:1059 intellectual disability ISO RGD:1346501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8912261 Tsga10ip testis specific 10 interacting protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8912261 Tsga10ip testis specific 10 interacting protein gene DOID:2746 glycogen storage disease V ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8912261 Tsga10ip testis specific 10 interacting protein gene DOID:630 genetic disease ISO RGD:1346501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912261 Tsga10ip testis specific 10 interacting protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1346501 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8912261 Tsga10ip testis specific 10 interacting protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1346501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8912273 Pank3 pantothenate kinase 3 gene DOID:0111951 immunodeficiency 40 ISO RGD:1321488 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 8912273 Pank3 pantothenate kinase 3 gene DOID:630 genetic disease ISO RGD:1321488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912283 Muc20 mucin 20, cell surface associated gene DOID:0080162 lupus nephritis ISO RGD:1312551 D RGD:9068941 20200609 RGD PMID:14565953|REF_RGD_ID:7364790 8912283 Muc20 mucin 20, cell surface associated gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1312550 D RGD:9068941 20200609 RGD DNA:repeat PMID:16508246|REF_RGD_ID:7364789 8912283 Muc20 mucin 20, cell surface associated gene DOID:3021 acute kidney failure ISO RGD:1312551 D RGD:9068941 20200609 RGD PMID:14565953|REF_RGD_ID:7364790 8912283 Muc20 mucin 20, cell surface associated gene DOID:5199 ureteral obstruction ISO RGD:1312551 D RGD:9068941 20200609 RGD PMID:14565953|REF_RGD_ID:7364790 8912309 Fam131b family with sequence similarity 131 member B gene DOID:0080600 COVID-19 ISO RGD:1605421 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8912309 Fam131b family with sequence similarity 131 member B gene DOID:0081335 Becker disease ISO RGD:1605421 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form PMID:16321142|PMID:18337100|PMID:23113340|PMID:23739125|PMID:25741868|PMID:26467025|PMID:28492532 8912309 Fam131b family with sequence similarity 131 member B gene DOID:0081336 Thomsen disease ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form PMID:16321142|PMID:18337100|PMID:23113340|PMID:23739125|PMID:25741868|PMID:26467025|PMID:28492532 8912309 Fam131b family with sequence similarity 131 member B gene DOID:630 genetic disease ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912309 Fam131b family with sequence similarity 131 member B gene DOID:9008993 Myotonia ISO RGD:1605421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotonia PMID:16321142|PMID:18337100|PMID:23113340|PMID:23739125|PMID:25741868|PMID:26467025|PMID:28492532 8912328 Slc4a8 solute carrier family 4 member 8 gene DOID:11716 prediabetes syndrome ISO RGD:735164 D RGD:9068941 20200609 RGD PMID:24105628|REF_RGD_ID:9999379 8912328 Slc4a8 solute carrier family 4 member 8 gene DOID:630 genetic disease ISO RGD:1346907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912353 Gabarap GABA type A receptor-associated protein gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:736805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8912353 Gabarap GABA type A receptor-associated protein gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:736805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8912353 Gabarap GABA type A receptor-associated protein gene DOID:1059 intellectual disability ISO RGD:736805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8912353 Gabarap GABA type A receptor-associated protein gene DOID:12177 common variable immunodeficiency ISO RGD:736805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8912353 Gabarap GABA type A receptor-associated protein gene DOID:2729 dyskeratosis congenita ISO RGD:736805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8912353 Gabarap GABA type A receptor-associated protein gene DOID:3012 Li-Fraumeni syndrome ISO RGD:736805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8912353 Gabarap GABA type A receptor-associated protein gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:736805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8912353 Gabarap GABA type A receptor-associated protein gene DOID:630 genetic disease ISO RGD:736805 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912371 Cs citrate synthase gene DOID:0050700 cardiomyopathy ISO RGD:1606843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14568902 8912371 Cs citrate synthase gene DOID:0050852 limb ischemia ISO RGD:620330 D RGD:9068941 20230413 RGD PMID:571116|REF_RGD_ID:243049254 8912371 Cs citrate synthase gene DOID:0060224 atrial fibrillation ISO RGD:733217 D RGD:9068941 20230406 RGD protein:decreased expression:left cardiac atrium PMID:35013064|REF_RGD_ID:243048475 8912371 Cs citrate synthase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1606843 D RGD:9068941 20230406 RGD PMID:10354207|REF_RGD_ID:243048483 8912371 Cs citrate synthase gene DOID:12930 dilated cardiomyopathy ISO RGD:1606843 D RGD:9068941 20230406 RGD PMID:10354207|PMID:8252591|REF_RGD_ID:243048472|REF_RGD_ID:243048483 8912371 Cs citrate synthase gene DOID:1459 hypothyroidism ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:15817832|PMID:29748131|REF_RGD_ID:243048477|REF_RGD_ID:243048482 8912371 Cs citrate synthase gene DOID:3312 bipolar disorder ISO RGD:620330 D RGD:9068941 20230427 RGD protein decreased expression:brain PMID:24359811|REF_RGD_ID:329337349 8912371 Cs citrate synthase gene DOID:3312 bipolar disorder ISO RGD:620330 D RGD:9068941 20230427 RGD protein decreased expression:prefrontal cortex PMID:20372980|REF_RGD_ID:329337348 8912371 Cs citrate synthase gene DOID:3312 bipolar disorder treatment ISO RGD:620330 D RGD:9068941 20230427 RGD PMID:17367908|REF_RGD_ID:329337351 8912371 Cs citrate synthase gene DOID:5844 myocardial infarction ISO RGD:733217 D RGD:9068941 20230406 RGD protein:decreased expression:diaphragm, mitochondrion PMID:34416105|REF_RGD_ID:243048471 8912371 Cs citrate synthase gene DOID:5844 myocardial infarction severity ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:1877670|REF_RGD_ID:243048469 8912371 Cs citrate synthase gene DOID:6000 congestive heart failure ISO RGD:1606843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8922916 8912371 Cs citrate synthase gene DOID:6000 congestive heart failure ISO RGD:620330 D RGD:9068941 20230406 RGD associated with pulmonary hypertension PMID:23099843|REF_RGD_ID:243048480 8912371 Cs citrate synthase gene DOID:6000 congestive heart failure severity ISO RGD:620330 D RGD:9068941 20230413 RGD PMID:7484170|REF_RGD_ID:243049253 8912371 Cs citrate synthase gene DOID:6000 congestive heart failure treatment ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:28492791|REF_RGD_ID:243048466 8912371 Cs citrate synthase gene DOID:630 genetic disease ISO RGD:1606843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8912371 Cs citrate synthase gene DOID:7998 hyperthyroidism ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:15817832|REF_RGD_ID:243048477 8912371 Cs citrate synthase gene DOID:9001747 Ventricular Dysfunction, Left treatment ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:31403269|REF_RGD_ID:243048473 8912371 Cs citrate synthase gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:20005400|REF_RGD_ID:243048470 8912371 Cs citrate synthase gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:25416448|REF_RGD_ID:13504849 8912371 Cs citrate synthase gene DOID:9002669 Hypoxia ISO RGD:1606843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 8912371 Cs citrate synthase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:15132986|REF_RGD_ID:243048479 8912371 Cs citrate synthase gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:15569775|REF_RGD_ID:243048481 8912371 Cs citrate synthase gene DOID:9003936 Cardiomegaly ISO RGD:620330 D RGD:9068941 20230406 RGD PMID:12941647|REF_RGD_ID:243048478 8912371 Cs citrate synthase gene DOID:9004484 Sepsis ISO RGD:620330 D RGD:9068941 20230427 RGD protein:decreased expression:cerebral cortex PMID:25299715|REF_RGD_ID:329337347 8912371 Cs citrate synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620330 D RGD:9068941 20230427 RGD protein decreased expression:heart, soleus PMID:12077722|REF_RGD_ID:329337354 8912371 Cs citrate synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620330 D RGD:9068941 20230427 RGD protein:increased expression:hippocampus PMID:21088877|REF_RGD_ID:329337352 8912371 Cs citrate synthase gene DOID:9005930 Endotoxemia ISO RGD:620330 D RGD:9068941 20230427 RGD protein:increased expression:gastrocnemius PMID:25674200|REF_RGD_ID:329337350 8912371 Cs citrate synthase gene DOID:9970 obesity ISO RGD:1606843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8912385 Mblac2 metallo-beta-lactamase domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8912385 Mblac2 metallo-beta-lactamase domain containing 2 gene DOID:630 genetic disease ISO RGD:1601715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912385 Mblac2 metallo-beta-lactamase domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8912385 Mblac2 metallo-beta-lactamase domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601715 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8912391 Tigd4 tigger transposable element derived 4 gene DOID:630 genetic disease ISO RGD:1314017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912398 Dram1 DNA damage regulated autophagy modulator 1 gene DOID:630 genetic disease ISO RGD:1605066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912398 Dram1 DNA damage regulated autophagy modulator 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CoQ10 deficiency, primary | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary PMID:16116126|PMID:16400613|PMID:17332895|PMID:17374725|PMID:17420317|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:23758206|PMID:24988567|PMID:25349199|PMID:25525159|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827|PMID:30613928 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1603662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:0070238 primary coenzyme Q10 deficiency 1 ISO RGD:1603662 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 1 PMID:16116126|PMID:16400613|PMID:17332895|PMID:17374725|PMID:17420317|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23343605|PMID:23349334|PMID:23758206|PMID:24033266|PMID:24988567|PMID:25078619|PMID:25349199|PMID:25525159|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:28780565|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30180404|PMID:30295827|PMID:30613928|PMID:32604935|PMID:32746448 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:0070238 primary coenzyme Q10 deficiency 1 susceptibility ISO RGD:1603662 D RGD:7240710 20240320 OMIM 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:10603 glucose intolerance ISO RGD:1306722 D RGD:9068941 20200609 RGD associated with obesity PMID:26296322|REF_RGD_ID:10755343 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:1184 nephrotic syndrome ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:25349199|PMID:25741868|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1603662 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:24033266|PMID:25741868|PMID:28492532 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:4752 multiple system atrophy ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple system atrophy PMID:17420317|PMID:23758206|PMID:24988567|PMID:24988568|PMID:24988569|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:30613928 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:557 kidney disease ISO RGD:1603662 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:630 genetic disease ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17420317|PMID:17855635|PMID:20495179|PMID:20689595|PMID:23349334|PMID:23758206|PMID:24988567|PMID:25349199|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27394078|PMID:27493029|PMID:28492532|PMID:29127259|PMID:29637272|PMID:29869118|PMID:30295827|PMID:30613928|PMID:32746448 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:9002322 Shy-Drager Syndrome ISO RGD:1603662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Shy-Drager syndrome PMID:17420317|PMID:23758206|PMID:24988567|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:30613928 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:9007501 Multiple System Atrophy (MSA) with Orthostatic Hypotension ISO RGD:1603662 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: COQ2-related condition | ClinVar Annotator: match by term: Multiple system atrophy (MSA) with orthostatic hypotension | ClinVar Annotator: match by term: Multiple system atrophy 1, susceptibility to PMID:16400613|PMID:17332895|PMID:17420317|PMID:17855635|PMID:23758206|PMID:24988567|PMID:25525159|PMID:25548529|PMID:25594503|PMID:25741868|PMID:27493029|PMID:28492532|PMID:28780565|PMID:30613928|PMID:31683770 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:9007501 Multiple System Atrophy (MSA) with Orthostatic Hypotension susceptibility ISO RGD:1603662 D RGD:7240710 20240320 OMIM 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:9007692 Insulin Resistance ISO RGD:1306722 D RGD:9068941 20200609 RGD associated with obesity PMID:26296322|REF_RGD_ID:10755343 8912409 Coq2 coenzyme Q2, polyprenyltransferase gene DOID:936 brain disease ISO RGD:1603662 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Neonatal encephalopathy PMID:25741868 8912420 Hoxa1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:7240710 20180130 OMIM 8912420 Hoxa1 homeobox A1 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome PMID:16155570|PMID:18412118|PMID:25741868|PMID:28492532 8912420 Hoxa1 homeobox A1 gene DOID:0060041 autism spectrum disorder no_association ISO RGD:737614 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:218A>G(human) PMID:14681917|REF_RGD_ID:11553826 8912420 Hoxa1 homeobox A1 gene DOID:1059 intellectual disability ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8912420 Hoxa1 homeobox A1 gene DOID:12849 autistic disorder ISO RGD:737614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11091361 8912420 Hoxa1 homeobox A1 gene DOID:12849 autistic disorder susceptibility ISO RGD:737614 D RGD:9068941 20200806 RGD DNA:missense mutation:cds:p.H73R (human) PMID:14960295|REF_RGD_ID:1358730 8912420 Hoxa1 homeobox A1 gene DOID:1682 congenital heart disease ISO RGD:737614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940751 8912420 Hoxa1 homeobox A1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8912420 Hoxa1 homeobox A1 gene DOID:630 genetic disease ISO RGD:737614 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8912420 Hoxa1 homeobox A1 gene DOID:9003270 Microtia-Anotia ISO RGD:13932952 D RGD:9068941 20210604 OMIA Microtia PMID:26035869 8912420 Hoxa1 homeobox A1 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:737614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate 8912420 Hoxa1 homeobox A1 gene DOID:9006534 Nervous System Malformations ISO RGD:737614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 8912420 Hoxa1 homeobox A1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:737614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 8912430 Cdc25b cell division cycle 25B gene DOID:0080365 endometrial hyperplasia ISO RGD:1604653 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:14559803|REF_RGD_ID:4105451 8912430 Cdc25b cell division cycle 25B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1604653 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8912430 Cdc25b cell division cycle 25B gene DOID:10283 prostate cancer ISO RGD:1604653 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:12569365|REF_RGD_ID:4105454 8912430 Cdc25b cell division cycle 25B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1604653 D RGD:9068941 20200609 RGD PMID:19383904|REF_RGD_ID:2739695 8912430 Cdc25b cell division cycle 25B gene DOID:1380 endometrial cancer ISO RGD:1604653 D RGD:9068941 20200609 RGD PMID:14559803|REF_RGD_ID:4105451 8912430 Cdc25b cell division cycle 25B gene DOID:2101 vulva squamous cell carcinoma disease_progression ISO RGD:1604653 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:20500813|REF_RGD_ID:2729590 8912430 Cdc25b cell division cycle 25B gene DOID:3459 breast carcinoma disease_progression ISO RGD:1604653 D RGD:9068941 20200609 RGD PMID:15550849|REF_RGD_ID:4105449 8912430 Cdc25b cell division cycle 25B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1604653 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8912430 Cdc25b cell division cycle 25B gene DOID:630 genetic disease ISO RGD:1604653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912430 Cdc25b cell division cycle 25B gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1604653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8912430 Cdc25b cell division cycle 25B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8912430 Cdc25b cell division cycle 25B gene DOID:9775 diastolic heart failure ISO RGD:1604653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8912452 Cd274 CD274 molecule gene DOID:0040083 Chlamydia pneumonia ISO RGD:1553554 D RGD:9068941 20210219 RGD mRNA:increased expression:lung PMID:26378990|REF_RGD_ID:41412180 8912452 Cd274 CD274 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:27418641|REF_RGD_ID:41412177 8912452 Cd274 CD274 molecule gene DOID:0050784 primary progressive multiple sclerosis severity ISO RGD:1553554 D RGD:9068941 20200609 RGD PMID:21494618|REF_RGD_ID:6893669 8912452 Cd274 CD274 molecule gene DOID:0060058 lymphoma ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28736328 8912452 Cd274 CD274 molecule gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1605684 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8912452 Cd274 CD274 molecule gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:16253242|REF_RGD_ID:41410794 8912452 Cd274 CD274 molecule gene DOID:0080159 cryptococcal meningitis treatment ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:29058791|REF_RGD_ID:41412178 8912452 Cd274 CD274 molecule gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD associated with Epstein-Barr Virus Infections PMID:27595782|REF_RGD_ID:41412182 8912452 Cd274 CD274 molecule gene DOID:10534 stomach cancer disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:32089413|PMID:32380498|REF_RGD_ID:40818238|REF_RGD_ID:41410803 8912452 Cd274 CD274 molecule gene DOID:10591 pre-eclampsia treatment ISO RGD:1566211 D RGD:9068941 20201203 RGD PMID:27277012|REF_RGD_ID:40886269 8912452 Cd274 CD274 molecule gene DOID:11166 papillomavirus infectious disease ISO RGD:1605684 D RGD:9068941 20201203 RGD associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell PMID:23521696|REF_RGD_ID:40822817 8912452 Cd274 CD274 molecule gene DOID:11260 rabies ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:18490751|REF_RGD_ID:41410795 8912452 Cd274 CD274 molecule gene DOID:1205 allergic disease ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20488241|PMID:23624239 8912452 Cd274 CD274 molecule gene DOID:12148 alveolar echinococcosis treatment ISO RGD:1553554 D RGD:9068941 20210212 RGD PMID:30315719|REF_RGD_ID:41410787 8912452 Cd274 CD274 molecule gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:23230000|REF_RGD_ID:41410802 8912452 Cd274 CD274 molecule gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1553554 D RGD:9068941 20201112 RGD protein:increased expression: lung PMID:25465101|REF_RGD_ID:11056952 8912452 Cd274 CD274 molecule gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1553554 D RGD:9068941 20201112 RGD PMID:25465101|REF_RGD_ID:11056952 8912452 Cd274 CD274 molecule gene DOID:14115 toxic shock syndrome ISO RGD:1605684 D RGD:9068941 20201203 RGD protein:increased expression:serum PMID:29702526|REF_RGD_ID:40822808 8912452 Cd274 CD274 molecule gene DOID:14115 toxic shock syndrome severity ISO RGD:1605684 D RGD:9068941 20210212 RGD protein:increased expression:lymphocyte, mononcyte PMID:26063974|REF_RGD_ID:41410786 8912452 Cd274 CD274 molecule gene DOID:1731 histoplasmosis ISO RGD:1553554 D RGD:9068941 20201203 RGD protein:increased expression:macrophage, dendritic cell, lymphocyte, splenocytes, PMID:18268348|REF_RGD_ID:40822806 8912452 Cd274 CD274 molecule gene DOID:1883 hepatitis C ISO RGD:1605684 D RGD:9068941 20210219 RGD protein:increased expression:dendritic cell PMID:20513078|REF_RGD_ID:41410799 8912452 Cd274 CD274 molecule gene DOID:1909 melanoma ISO RGD:1605684 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:20143437 8912452 Cd274 CD274 molecule gene DOID:2048 autoimmune hepatitis ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:19781375|REF_RGD_ID:41412171 8912452 Cd274 CD274 molecule gene DOID:219 colon cancer treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:28424330|REF_RGD_ID:41410791 8912452 Cd274 CD274 molecule gene DOID:2394 ovarian cancer ISO RGD:1553554 D RGD:9068941 20210219 RGD associated with ovarian cancer PMID:23340297|REF_RGD_ID:41410797 8912452 Cd274 CD274 molecule gene DOID:2394 ovarian cancer treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:28424330|REF_RGD_ID:41410791 8912452 Cd274 CD274 molecule gene DOID:2841 asthma treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD associated with Chlamydia pneumonia PMID:26378990|REF_RGD_ID:41412180 8912452 Cd274 CD274 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1605684 D RGD:9068941 20201203 RGD protein:increased expression:Tcell, B cell, monocyte PMID:23661793|REF_RGD_ID:40818418 8912452 Cd274 CD274 molecule gene DOID:3008 invasive ductal carcinoma ISO RGD:1605684 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:16611412 8912452 Cd274 CD274 molecule gene DOID:303 substance-related disorder ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8912452 Cd274 CD274 molecule gene DOID:3951 acute myocarditis ISO RGD:1553554 D RGD:9068941 20201203 RGD associated with Coxsackievirus Infections;protein:increased expression:ventricle: PMID:17434153|REF_RGD_ID:40822819 8912452 Cd274 CD274 molecule gene DOID:399 tuberculosis ISO RGD:1605684 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:blood, neutrophil PMID:21509782|REF_RGD_ID:41412173 8912452 Cd274 CD274 molecule gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:1553554 D RGD:9068941 20200609 RGD PMID:21965585|REF_RGD_ID:7248671 8912452 Cd274 CD274 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:30161254|PMID:30236481|REF_RGD_ID:41412179|REF_RGD_ID:41412181 8912452 Cd274 CD274 molecule gene DOID:630 genetic disease ISO RGD:1605684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912452 Cd274 CD274 molecule gene DOID:646 viral encephalitis ISO RGD:1553554 D RGD:9068941 20201113 RGD PMID:20876353|PMID:31105690|REF_RGD_ID:40818239|REF_RGD_ID:6893671 8912452 Cd274 CD274 molecule gene DOID:646 viral encephalitis ISO RGD:1553554 D RGD:9068941 20201113 RGD protein:increased expression: myeloid cells, microglia, astrocytes PMID:31105690|REF_RGD_ID:40818239 8912452 Cd274 CD274 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22396772 8912452 Cd274 CD274 molecule gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605684 D RGD:9068941 20201113 RGD associated with hepatitis B PMID:30267213|REF_RGD_ID:40818240 8912452 Cd274 CD274 molecule gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD associated with hepatitis B PMID:21912640|REF_RGD_ID:41410800 8912452 Cd274 CD274 molecule gene DOID:824 periodontitis ISO RGD:1566211 D RGD:9068941 20201203 RGD protein:increased expression:periodontium PMID:32346701|REF_RGD_ID:40886271 8912452 Cd274 CD274 molecule gene DOID:8469 influenza ISO RGD:1605684 D RGD:9068941 20210219 RGD PMID:24187568|REF_RGD_ID:41410793 8912452 Cd274 CD274 molecule gene DOID:8566 herpes simplex ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:29669784|REF_RGD_ID:41412169 8912452 Cd274 CD274 molecule gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1605684 D RGD:9068941 20201203 RGD associated with Papillomavirus Infections; protein:increased expression:dendritic cell PMID:23521696|REF_RGD_ID:40822817 8912452 Cd274 CD274 molecule gene DOID:9000039 Spinal Cord Injuries ISO RGD:1566211 D RGD:9068941 20201203 RGD mRNA:increased expression:microglial cell PMID:29665726|REF_RGD_ID:40886268 8912452 Cd274 CD274 molecule gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605684 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:16530813 8912452 Cd274 CD274 molecule gene DOID:9000217 Stomach Neoplasms ISO RGD:1605684 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:16530813 8912452 Cd274 CD274 molecule gene DOID:9000220 Coxsackievirus Infections treatment ISO RGD:1553554 D RGD:9068941 20201120 RGD PMID:30904424|REF_RGD_ID:40818421 8912452 Cd274 CD274 molecule gene DOID:9000277 Radiation-Induced Neoplasms ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28736328 8912452 Cd274 CD274 molecule gene DOID:9000918 Disease Progression ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27692344 8912452 Cd274 CD274 molecule gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD associated with ovarian cancer PMID:23340297|REF_RGD_ID:41410797 8912452 Cd274 CD274 molecule gene DOID:9001228 Fungemia treatment ISO RGD:1553554 D RGD:9068941 20201112 RGD PMID:23663657|REF_RGD_ID:40818234 8912452 Cd274 CD274 molecule gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605684 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:17360651 8912452 Cd274 CD274 molecule gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1605684 D RGD:9068941 20201203 RGD protein:increased expression: larynx PMID:22322668|REF_RGD_ID:40822813 8912452 Cd274 CD274 molecule gene DOID:9002801 Recurrence ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22396772 8912452 Cd274 CD274 molecule gene DOID:9003223 Corneal Graft Rejection treatment ISO RGD:1566211 D RGD:9068941 20210219 RGD PMID:22300371|REF_RGD_ID:41412184 8912452 Cd274 CD274 molecule gene DOID:9004017 Chronic Hepatitis C ISO RGD:1605684 D RGD:9068941 20210219 RGD protein:increased expression:peripheral blood mononuclear cell PMID:18086898|REF_RGD_ID:41410796 8912452 Cd274 CD274 molecule gene DOID:9004283 Transplant Rejection ISO RGD:1553554 D RGD:9068941 20200609 RGD PMID:14662900|REF_RGD_ID:8657367 8912452 Cd274 CD274 molecule gene DOID:9004484 Sepsis ISO RGD:1605684 D RGD:9068941 20201112 RGD protein:increased expression:monocyte PMID:30595665|REF_RGD_ID:40818235 8912452 Cd274 CD274 molecule gene DOID:9004484 Sepsis ISO RGD:1605684 D RGD:9068941 20201203 RGD protein:increased expression:B cell,CD4T cell PMID:29661225|REF_RGD_ID:40818424 8912452 Cd274 CD274 molecule gene DOID:9004484 Sepsis disease_progression ISO RGD:1605684 D RGD:9068941 20201203 RGD PMID:29702526|REF_RGD_ID:40822808 8912452 Cd274 CD274 molecule gene DOID:9004484 Sepsis disease_progression ISO RGD:1605684 D RGD:9068941 20210219 RGD protein:increased expression:monocyte PMID:27156867|REF_RGD_ID:41412183 8912452 Cd274 CD274 molecule gene DOID:9005161 Thymus Neoplasms ISO RGD:1605684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28736328 8912452 Cd274 CD274 molecule gene DOID:9005172 Lung Neoplasms ISO RGD:1605684 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:27692344|PMID:34166680 8912452 Cd274 CD274 molecule gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1566211 D RGD:9068941 20201203 RGD PMID:29043842|REF_RGD_ID:40886270 8912452 Cd274 CD274 molecule gene DOID:9006644 Retroviridae Infections treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:24187568|REF_RGD_ID:41410793 8912452 Cd274 CD274 molecule gene DOID:9006925 Hepatic Echinococcosis ISO RGD:1553554 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:liver PMID:25907244|REF_RGD_ID:41412175 8912452 Cd274 CD274 molecule gene DOID:9006928 Viral Bronchiolitis ISO RGD:1553554 D RGD:9068941 20201117 RGD mRNA:increased expression:lung PMID:22797302|REF_RGD_ID:40818270 8912452 Cd274 CD274 molecule gene DOID:9006928 Viral Bronchiolitis treatment ISO RGD:1553554 D RGD:9068941 20201117 RGD PMID:22797302|REF_RGD_ID:40818270 8912452 Cd274 CD274 molecule gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605684 D RGD:9068941 20210219 RGD protein:increased expression:regulatory T cell PMID:26266813|REF_RGD_ID:11344683 8912452 Cd274 CD274 molecule gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:20460044|REF_RGD_ID:41412166 8912452 Cd274 CD274 molecule gene DOID:9111 cutaneous leishmaniasis ISO RGD:1553554 D RGD:9068941 20210219 RGD PMID:16358363|REF_RGD_ID:41410801 8912475 Gjb1 gap junction protein beta 1 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:732555 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dejerine-Sottas disease PMID:10737979|PMID:15241803|PMID:15947997|PMID:20301548|PMID:25741868|PMID:28492532|PMID:9633821 8912475 Gjb1 gap junction protein beta 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:732555 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:10071100|PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:11030070|PMID:11140841|PMID:11252295|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11718056|PMID:11723288|PMID:11835375|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12297581|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12499506|PMID:12536289|PMID:12542510|PMID:12707076|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14706470|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15470753|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16301507|PMID:16373087|PMID:16401743|PMID:16442804|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17353473|PMID:17576681|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380028|PMID:18380031|PMID:18636082|PMID:18714809|PMID:18717720|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20532933|PMID:20730878|PMID:20942588|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21504505|PMID:21607969|PMID:21692908|PMID:21918739|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22465464|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23707145|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24078732|PMID:24290847|PMID:24327141|PMID:24444136|PMID:24484554|PMID:24627108|PMID:24724718|PMID:24768312|PMID:24863494|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25771809|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26479765|PMID:26955336|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28097225|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:28797703|PMID:28902413|PMID:29077882|PMID:29095325|PMID:29236290|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31827005|PMID:31842800|PMID:31902012|PMID:31919945|PMID:31920494|PMID:31948496|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:34190362|PMID:34326750|PMID:34678594|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8698335|PMID:8733054|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8889588|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469571|PMID:9536098|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9760211|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 8912475 Gjb1 gap junction protein beta 1 gene DOID:0050753 cerebellar ataxia ISO RGD:732555 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:11438991|PMID:11571214|PMID:15468313|PMID:18717720|PMID:20193560|PMID:23384994|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28768847|PMID:9361298|PMID:9818870 8912475 Gjb1 gap junction protein beta 1 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:732555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 8912475 Gjb1 gap junction protein beta 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2559087 8912475 Gjb1 gap junction protein beta 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8912475 Gjb1 gap junction protein beta 1 gene DOID:0110153 Charcot-Marie-Tooth disease type 1E ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE PMID:12402337|PMID:15241803|PMID:25741868|PMID:26467025|PMID:28492532 8912475 Gjb1 gap junction protein beta 1 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:732555 D RGD:7240710 20180130 OMIM 8912475 Gjb1 gap junction protein beta 1 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:732555 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 | ClinVar Annotator: match by term: GJB1-related condition | ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1 PMID:10071100|PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10587015|PMID:10639608|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:11140841|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11718056|PMID:11723288|PMID:11734543|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12297581|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12499506|PMID:12542510|PMID:12707076|PMID:14627639|PMID:14663027|PMID:14706470|PMID:14960772|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15470753|PMID:15574129|PMID:15719046|PMID:15852376|PMID:15947997|PMID:16079393|PMID:16301507|PMID:16442804|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17353473|PMID:17576681|PMID:17620124|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18714809|PMID:18717720|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20593665|PMID:20857133|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21291455|PMID:21309765|PMID:21326314|PMID:21504505|PMID:21692908|PMID:21918739|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23707145|PMID:23773993|PMID:23806086|PMID:23827825|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24327141|PMID:24444136|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25429913|PMID:25614874|PMID:25741868|PMID:25771809|PMID:25802885|PMID:25947624|PMID:26257172|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26479765|PMID:26955336|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28097225|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29077882|PMID:29086968|PMID:29095325|PMID:29236290|PMID:29245364|PMID:29462293|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31842800|PMID:31920494|PMID:31948496|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:34190362|PMID:34326750|PMID:427531|PMID:7477983|PMID:7580242|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8698335|PMID:8733054|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8889588|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452099|PMID:9536098|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 8912475 Gjb1 gap junction protein beta 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:10102421|PMID:10207904|PMID:10848620|PMID:11571214|PMID:21291455|PMID:25741868|PMID:27544631|PMID:28071741|PMID:28469099|PMID:28492532|PMID:31220874|PMID:31323543|PMID:31842800|PMID:32376792|PMID:33314704|PMID:8004109|PMID:9361298 8912475 Gjb1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586227|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20435583|PMID:20491857|PMID:20593665|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22159091|PMID:22243284|PMID:22464564|PMID:224645664|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27098783|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29095325|PMID:30373780|PMID:30737405|PMID:31211173|PMID:31673878|PMID:32010055|PMID:32399692|PMID:33105617|PMID:33136338|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 8912475 Gjb1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586227|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11257785|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20435583|PMID:20593665|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22159091|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25947624|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27027447|PMID:27098783|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29095325|PMID:30373780|PMID:31211173|PMID:31673878|PMID:32010055|PMID:32399692|PMID:33105617|PMID:33136338|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 8912475 Gjb1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10487913|PMID:10521546|PMID:10586227|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11257785|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20435583|PMID:20593665|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22159091|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25947624|PMID:26392352|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27027447|PMID:27098783|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29095325|PMID:30373780|PMID:31211173|PMID:31673878|PMID:32010055|PMID:32399692|PMID:33105617|PMID:33136338|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 8912475 Gjb1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18714809|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20593665|PMID:20730878|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29086968|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31842800|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 8912475 Gjb1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18714809|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20593665|PMID:20730878|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21918739|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29086968|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31842800|PMID:31920494|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 8912475 Gjb1 gap junction protein beta 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732555 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10071100|PMID:10093067|PMID:10102421|PMID:10207904|PMID:10220155|PMID:10234007|PMID:10400511|PMID:10487913|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586284|PMID:10586291|PMID:10587015|PMID:10639608|PMID:10646523|PMID:10671058|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10894999|PMID:10923043|PMID:10931843|PMID:10938190|PMID:11030070|PMID:11085599|PMID:11140841|PMID:11180613|PMID:11252295|PMID:11257785|PMID:11266688|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11404117|PMID:11437164|PMID:11438991|PMID:11545686|PMID:11562788|PMID:11571214|PMID:11723288|PMID:11835375|PMID:11891346|PMID:12111842|PMID:1211842|PMID:12185164|PMID:12207932|PMID:12325071|PMID:12362307|PMID:12402337|PMID:12457340|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12536289|PMID:12542510|PMID:12614935|PMID:12707076|PMID:14607795|PMID:14627639|PMID:14663027|PMID:14663144|PMID:14680548|PMID:14960772|PMID:14991359|PMID:15006706|PMID:15241803|PMID:15468313|PMID:15574129|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16401743|PMID:16476939|PMID:16688595|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17297706|PMID:17353473|PMID:17620124|PMID:17646144|PMID:17714866|PMID:18254389|PMID:18379723|PMID:18380022|PMID:18380028|PMID:18636082|PMID:18714809|PMID:18717720|PMID:18846639|PMID:19062535|PMID:19259128|PMID:19297523|PMID:19335535|PMID:19369543|PMID:19448103|PMID:19468074|PMID:19691535|PMID:20039784|PMID:20128140|PMID:20193560|PMID:20301548|PMID:20491857|PMID:20593665|PMID:20730878|PMID:20857133|PMID:20942588|PMID:21104867|PMID:21149811|PMID:21254193|PMID:21280457|PMID:21282593|PMID:21291455|PMID:21300330|PMID:21309765|PMID:21326314|PMID:21607969|PMID:21692908|PMID:21918739|PMID:21922480|PMID:22243284|PMID:22464564|PMID:22465464|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23011429|PMID:23106488|PMID:23209285|PMID:23232577|PMID:23279342|PMID:23384994|PMID:23649551|PMID:23773993|PMID:23827825|PMID:23838279|PMID:23871722|PMID:24053775|PMID:24078732|PMID:24170412|PMID:24327141|PMID:24444136|PMID:24627108|PMID:24768312|PMID:24958582|PMID:25025039|PMID:25043634|PMID:25086786|PMID:25388846|PMID:25429913|PMID:25595958|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25883816|PMID:25947624|PMID:25969535|PMID:26274329|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27098243|PMID:27098783|PMID:27228968|PMID:27234031|PMID:27367520|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27812541|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28283593|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:29086968|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:29998508|PMID:30196252|PMID:30340945|PMID:30373780|PMID:30737405|PMID:31119804|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31842800|PMID:31920494|PMID:31948496|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32657593|PMID:32903794|PMID:33105617|PMID:33136338|PMID:33314704|PMID:34089394|PMID:34190362|PMID:34326750|PMID:7477983|PMID:7580242|PMID:7833935|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8628473|PMID:8698335|PMID:8737658|PMID:8757034|PMID:8800924|PMID:8816997|PMID:8829637|PMID:8990008|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9452025|PMID:9452099|PMID:9469569|PMID:9469571|PMID:9541114|PMID:9566397|PMID:9592087|PMID:9600589|PMID:9633821|PMID:9818870|PMID:9854984|PMID:9856562|PMID:9888385 8912475 Gjb1 gap junction protein beta 1 gene DOID:11720 distal myopathy ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:25741868 8912475 Gjb1 gap junction protein beta 1 gene DOID:12849 autistic disorder ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8912475 Gjb1 gap junction protein beta 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:61926 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:7762611|REF_RGD_ID:7349397 8912475 Gjb1 gap junction protein beta 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:25741868 8912475 Gjb1 gap junction protein beta 1 gene DOID:4450 renal cell carcinoma ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264126 8912475 Gjb1 gap junction protein beta 1 gene DOID:574 peripheral nervous system disease ISO RGD:732555 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10923043|PMID:11571214|PMID:12497641|PMID:15006706|PMID:15241803|PMID:17100997|PMID:22243284|PMID:23106488|PMID:25025039|PMID:25741868|PMID:26454100|PMID:27025386|PMID:27027447|PMID:27234031|PMID:27844031|PMID:28492532|PMID:32022442|PMID:7580242|PMID:9187667 8912475 Gjb1 gap junction protein beta 1 gene DOID:630 genetic disease ISO RGD:732555 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10093067|PMID:10102421|PMID:10207904|PMID:10234007|PMID:10521546|PMID:10586261|PMID:10586279|PMID:10586291|PMID:10639608|PMID:10646523|PMID:10732813|PMID:10737979|PMID:10848620|PMID:10873293|PMID:10923043|PMID:11271367|PMID:11325342|PMID:11393532|PMID:11571214|PMID:11718056|PMID:11835375|PMID:12111842|PMID:1211842|PMID:12402337|PMID:12460545|PMID:12477701|PMID:12497641|PMID:12542510|PMID:14627639|PMID:14663027|PMID:14706470|PMID:14960772|PMID:15006706|PMID:15241803|PMID:15719046|PMID:15852376|PMID:16079393|PMID:16096811|PMID:16476939|PMID:16912585|PMID:16922730|PMID:17100997|PMID:17353473|PMID:17646144|PMID:18254389|PMID:18379723|PMID:18636082|PMID:18714809|PMID:19062535|PMID:19193385|PMID:19259128|PMID:19297523|PMID:19369543|PMID:20039784|PMID:20128140|PMID:20301548|PMID:21149811|PMID:21254193|PMID:21291455|PMID:21309765|PMID:21692908|PMID:22243284|PMID:22464564|PMID:22465464|PMID:22771394|PMID:22820753|PMID:22944031|PMID:23106488|PMID:23209285|PMID:23649551|PMID:23871722|PMID:24078732|PMID:25025039|PMID:25429913|PMID:25614874|PMID:25741868|PMID:26274329|PMID:26454100|PMID:26467025|PMID:26955336|PMID:27025386|PMID:27027447|PMID:27098783|PMID:27228968|PMID:27544631|PMID:27549087|PMID:27804109|PMID:27844031|PMID:27862672|PMID:28071741|PMID:28286897|PMID:28334782|PMID:28448691|PMID:28469099|PMID:28492532|PMID:28768847|PMID:28797703|PMID:29077882|PMID:29095325|PMID:29245364|PMID:29462293|PMID:29629536|PMID:30340945|PMID:30373780|PMID:31211173|PMID:31220874|PMID:31323543|PMID:31372974|PMID:31842800|PMID:32010055|PMID:32022442|PMID:32376792|PMID:32399692|PMID:32903794|PMID:33136338|PMID:33314704|PMID:34326750|PMID:7477983|PMID:7580242|PMID:7946361|PMID:8004109|PMID:8162049|PMID:8266101|PMID:8304339|PMID:8698335|PMID:8737658|PMID:8800924|PMID:8816997|PMID:9018031|PMID:9099841|PMID:9187667|PMID:9272161|PMID:9328258|PMID:9354338|PMID:9361298|PMID:9364054|PMID:9401007|PMID:9469571|PMID:9592087|PMID:9600589|PMID:9633821 8912475 Gjb1 gap junction protein beta 1 gene DOID:657 adenoma ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16926031 8912475 Gjb1 gap junction protein beta 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17978847 8912475 Gjb1 gap junction protein beta 1 gene DOID:7188 autoimmune thyroiditis ISO RGD:61926 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression, altered expression:thyroid gland: PMID:8770903|REF_RGD_ID:7349390 8912475 Gjb1 gap junction protein beta 1 gene DOID:870 neuropathy ISO RGD:732555 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10923043|PMID:11571214|PMID:12497641|PMID:15006706|PMID:15241803|PMID:17100997|PMID:22243284|PMID:23106488|PMID:25025039|PMID:25741868|PMID:26454100|PMID:27025386|PMID:27027447|PMID:27234031|PMID:27844031|PMID:28492532|PMID:32022442|PMID:7580242|PMID:9187667 8912475 Gjb1 gap junction protein beta 1 gene DOID:9000641 Pain ISO RGD:732555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pain PMID:16096811|PMID:21291455|PMID:22243284|PMID:25388846|PMID:25741868|PMID:26467025|PMID:28448691|PMID:28492532 8912475 Gjb1 gap junction protein beta 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17978847 8912475 Gjb1 gap junction protein beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:61926 D RGD:9068941 20200609 RGD PMID:1336494|REF_RGD_ID:7349398 8912475 Gjb1 gap junction protein beta 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18308698 8912475 Gjb1 gap junction protein beta 1 gene DOID:9004009 Reperfusion Injury ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25530438 8912475 Gjb1 gap junction protein beta 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15492231|PMID:16926031 8912475 Gjb1 gap junction protein beta 1 gene DOID:9007188 Liver Neoplasms ISO RGD:732555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2559087 8912475 Gjb1 gap junction protein beta 1 gene DOID:9007898 FG Syndrome 1 ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 8912475 Gjb1 gap junction protein beta 1 gene DOID:9008305 Talipes Cavus ISO RGD:732555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:25741868 8912475 Gjb1 gap junction protein beta 1 gene DOID:9008681 Deafness treatment ISO RGD:62219 D RGD:9068941 20200609 RGD PMID:21813206|REF_RGD_ID:7364894 8912484 Ppm1g protein phosphatase, Mg2+/Mn2+ dependent 1G gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:732734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8912484 Ppm1g protein phosphatase, Mg2+/Mn2+ dependent 1G gene DOID:5419 schizophrenia ISO RGD:732735 D RGD:9068941 20220825 MouseDO OMIM:181500 8912484 Ppm1g protein phosphatase, Mg2+/Mn2+ dependent 1G gene DOID:630 genetic disease ISO RGD:732734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:0050777 Joubert syndrome ISO RGD:1323087 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:0050778 Meckel syndrome ISO RGD:1323087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:0070338 cerebellar hypoplasia ISO RGD:1323087 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly ISO RGD:1323087 D RGD:7240710 20180130 OMIM 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly ISO RGD:1323087 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: KIAA0586-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly PMID:17576681|PMID:20301500|PMID:2080096|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:9536098 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:0110980 Joubert syndrome 1 ISO RGD:1323087 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:0110992 Joubert syndrome 23 ISO RGD:1323087 D RGD:7240710 20180130 OMIM 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:0110992 Joubert syndrome 23 ISO RGD:1323087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:16199547|PMID:17576681|PMID:20301500|PMID:2080096|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25954003|PMID:26026149|PMID:2609613|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:26938784|PMID:27618451|PMID:28125082|PMID:28490743|PMID:28492532|PMID:28497568|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:9536098 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:1148 polydactyly ISO RGD:1323087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15554946 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:630 genetic disease ISO RGD:1323087 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:25954003|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:27618451|PMID:28490743|PMID:28492532|PMID:9536098 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:8501 fundus dystrophy ISO RGD:1323087 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20301500|PMID:24033266|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323087 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568|PMID:32581362 8912504 Kiaa0586 KIAA0586 ortholog gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15554946 8912546 Ak2 adenylate kinase 2 gene DOID:0060020 reticular dysgenesis ISO RGD:735291 D RGD:7240710 20180130 OMIM 8912546 Ak2 adenylate kinase 2 gene DOID:0060020 reticular dysgenesis ISO RGD:735291 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Reticular dysgenesis PMID:17576681|PMID:19043416|PMID:19043417|PMID:19414857|PMID:23014587|PMID:23763981|PMID:24033266|PMID:25741868|PMID:26229552|PMID:26997321|PMID:28331055|PMID:28492532|PMID:29270983|PMID:29713328|PMID:30697212|PMID:30778343|PMID:31673062|PMID:32532877|PMID:9536098 8912546 Ak2 adenylate kinase 2 gene DOID:0080600 COVID-19 ISO RGD:735291 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8912546 Ak2 adenylate kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8912546 Ak2 adenylate kinase 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:2077 D RGD:9068941 20200609 RGD PMID:22246993|REF_RGD_ID:11100024 8912546 Ak2 adenylate kinase 2 gene DOID:627 severe combined immunodeficiency ISO RGD:735291 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:17576681|PMID:19043416|PMID:19043417|PMID:26229552|PMID:28331055|PMID:28492532|PMID:29270983|PMID:9536098 8912546 Ak2 adenylate kinase 2 gene DOID:630 genetic disease ISO RGD:735291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8912546 Ak2 adenylate kinase 2 gene DOID:9008681 Deafness ISO RGD:735291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19043416 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:0050156 idiopathic pulmonary fibrosis exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD associated with lung squamous cell carcinoma; DNA:mutations:multiple (human) PMID:33533494|REF_RGD_ID:150429642 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1602894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:0070338 cerebellar hypoplasia ISO RGD:1602894 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532|PMID:29276005|PMID:31474318|PMID:32710489 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:0080794 childhood acute megakaryoblastic leukemia ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome PMID:27993330 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:10534 stomach cancer exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD mRNA:decreased expression:stomach (human) PMID:29522714|REF_RGD_ID:150429638 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:10908 hydrocephalus ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:31474318 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:1240 leukemia ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24509477 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:28492532 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:1790 malignant mesothelioma ISO RGD:1602894 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:1790 malignant mesothelioma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:27834213|REF_RGD_ID:150429641 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1602894 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:2785 Dandy-Walker syndrome ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:31474318 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3307 teratoma ISO RGD:1602894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3571 liver cancer ISO RGD:1602894 D RGD:9068941 20210910 RGD protein:decreased expression:liver (human) PMID:26172293|REF_RGD_ID:11530741 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1602894 D RGD:9068941 20210910 RGD human cells and genes in mouse model PMID:33223508|REF_RGD_ID:150429633 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:27687306|REF_RGD_ID:150429649 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1621311 D RGD:9068941 20210910 RGD PMID:28202515|REF_RGD_ID:126848875 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma severity ISO RGD:1602894 D RGD:9068941 20210910 RGD PMID:33707235|REF_RGD_ID:150429648 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:23797736 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:SNPs,loss of heterozygosity:multiple (human) PMID:26864202|REF_RGD_ID:150429635 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:26891804|REF_RGD_ID:150429640 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20864444|PMID:22495309|PMID:23160955|PMID:24267886|PMID:24728327|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26580448|PMID:27317772|PMID:28424246|PMID:28492532|PMID:29276005|PMID:29681085|PMID:30419952|PMID:31474318|PMID:32710489|PMID:33004838 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:7474 malignant pleural mesothelioma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:CDS:multiple (human) PMID:26928227|REF_RGD_ID:150429647 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1602894 D RGD:9068941 20211105 RGD PMID:33691361|REF_RGD_ID:150520202 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9000027 Microsatellite Instability ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1602894 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:25741868|PMID:28492532|PMID:29276005|PMID:31474318|PMID:32710489 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9003745 Enteropathy-Associated T-Cell Lymphoma ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:27600764|REF_RGD_ID:150429643 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9004240 Phyllodes Tumor ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9006951 Autosomal Dominant Intellectual Developmental Disorder 70 ISO RGD:1602894 D RGD:7240710 20221221 OMIM 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9006951 Autosomal Dominant Intellectual Developmental Disorder 70 ISO RGD:1602894 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 70 PMID:25741868|PMID:28492532|PMID:32710489 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1602894 D RGD:7240710 20190315 OMIM 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1602894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome PMID:17576681|PMID:20864444|PMID:22495309|PMID:23160955|PMID:24267886|PMID:24728327|PMID:24852293|PMID:24901346|PMID:25574603|PMID:25741868|PMID:26084711|PMID:26467025|PMID:26580448|PMID:27317772|PMID:27455002|PMID:28166811|PMID:28424246|PMID:28492532|PMID:28577310|PMID:29276005|PMID:29681085|PMID:30419952|PMID:31474318|PMID:32668055|PMID:32710489|PMID:33004838|PMID:9536098 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1602894 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:1602894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9009131 Ventriculomegaly ISO RGD:1602894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:31474318 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9253 gastrointestinal stromal tumor exacerbates ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:mutations:multiple (human) PMID:26338826|REF_RGD_ID:150429637 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer ISO RGD:1602894 D RGD:9068941 20210910 RGD DNA:frameshift mutation:exon 3:c.4219delA (human) PMID:24925220|REF_RGD_ID:150429646 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer ISO RGD:1602894 D RGD:9068941 20210910 RGD mRNA:decreased expression:colon (human) PMID:26069251|REF_RGD_ID:150429645 8912562 Setd2 SET domain containing 2, histone lysine methyltransferase gene DOID:9256 colorectal cancer exacerbates ISO RGD:10166 D RGD:9068941 20210910 RGD PMID:28825595|REF_RGD_ID:150429636 8912590 Sptbn5 spectrin beta, non-erythrocytic 5 gene DOID:12849 autistic disorder ISO RGD:1322297 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8912590 Sptbn5 spectrin beta, non-erythrocytic 5 gene DOID:2717 Bloom syndrome ISO RGD:1322297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8912590 Sptbn5 spectrin beta, non-erythrocytic 5 gene DOID:630 genetic disease ISO RGD:1322297 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8912590 Sptbn5 spectrin beta, non-erythrocytic 5 gene DOID:9256 colorectal cancer ISO RGD:1322297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8912663 Spmap2l sperm microtubule associated protein 2 like gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:5688605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 8912676 Spag8 sperm associated antigen 8 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1316057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8912676 Spag8 sperm associated antigen 8 gene DOID:0070316 Miura type epiphyseal chondrodysplasia ISO RGD:1316057 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epiphyseal chondrodysplasia, miura type | ClinVar Annotator: match by term: Tall stature-scoliosis-macrodactyly of the great toes syndrome PMID:25387261|PMID:25741868|PMID:26633542|PMID:28492532|PMID:30359775|PMID:32720985 8912676 Spag8 sperm associated antigen 8 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1316057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8912676 Spag8 sperm associated antigen 8 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1316057 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:15146390|PMID:15572448|PMID:16199547|PMID:16384845|PMID:18945719|PMID:22691581|PMID:25387261|PMID:25741868|PMID:26567084|PMID:26633542|PMID:28492532|PMID:30359775|PMID:30408610|PMID:30622824|PMID:31960617|PMID:32720985 8912676 Spag8 sperm associated antigen 8 gene DOID:0080942 anauxetic dysplasia ISO RGD:1316057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8912676 Spag8 sperm associated antigen 8 gene DOID:0081422 familial focal epilepsy with variable foci 2 ISO RGD:1316057 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 PMID:25387261|PMID:25741868|PMID:26633542|PMID:28492532|PMID:30359775|PMID:30408610|PMID:32720985 8912676 Spag8 sperm associated antigen 8 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1316057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8912676 Spag8 sperm associated antigen 8 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1316057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8912676 Spag8 sperm associated antigen 8 gene DOID:630 genetic disease ISO RGD:1316057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912676 Spag8 sperm associated antigen 8 gene DOID:9001915 Short Stature with Nonspecific Skeletal Abnormalities ISO RGD:1316057 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities PMID:16384845|PMID:22691581|PMID:25741868|PMID:28492532 8912676 Spag8 sperm associated antigen 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316057 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8912676 Spag8 sperm associated antigen 8 gene DOID:9870 galactosemia ISO RGD:1316057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8912692 Ddhd1 DDHD domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318429 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 8912692 Ddhd1 DDHD domain containing 1 gene DOID:0110779 hereditary spastic paraplegia 28 ISO RGD:1318429 D RGD:7240710 20180130 OMIM 8912692 Ddhd1 DDHD domain containing 1 gene DOID:0110779 hereditary spastic paraplegia 28 ISO RGD:1318429 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 PMID:15786464|PMID:17576681|PMID:23176821|PMID:24989667|PMID:25741868|PMID:26944165|PMID:27216551|PMID:27999540|PMID:28492532|PMID:28818478|PMID:9536098 8912692 Ddhd1 DDHD domain containing 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318429 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23176821|PMID:24989667|PMID:25741868|PMID:26944165|PMID:27216551|PMID:28492532 8912692 Ddhd1 DDHD domain containing 1 gene DOID:630 genetic disease ISO RGD:1318429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8912692 Ddhd1 DDHD domain containing 1 gene DOID:9007428 Muscle Spasticity ISO RGD:1318429 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spasticity 8912711 Tbck TBC1 domain containing kinase gene DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 ISO RGD:1606987 D RGD:7240710 20190315 OMIM 8912711 Tbck TBC1 domain containing kinase gene DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 ISO RGD:1606987 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy | ClinVar Annotator: match by term: TBCK-related condition | ClinVar Annotator: match by term: TBCK-related disorders PMID:16199547|PMID:17576681|PMID:23977024|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:27275012|PMID:28492532|PMID:29283439|PMID:30103036|PMID:30542205|PMID:30577886|PMID:31618753|PMID:32190976|PMID:32576985|PMID:32860008|PMID:34298581|PMID:36317458|PMID:9536098 8912711 Tbck TBC1 domain containing kinase gene DOID:1059 intellectual disability ISO RGD:1606987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8912711 Tbck TBC1 domain containing kinase gene DOID:630 genetic disease ISO RGD:1606987 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:29283439|PMID:30103036|PMID:30577886|PMID:31618753|PMID:32959227 8912711 Tbck TBC1 domain containing kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8912711 Tbck TBC1 domain containing kinase gene DOID:9006534 Nervous System Malformations ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036 8912711 Tbck TBC1 domain containing kinase gene DOID:9008086 Developmental Disabilities ISO RGD:1606987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16199547|PMID:25558065|PMID:25741868|PMID:27040691|PMID:27040692|PMID:28492532|PMID:30103036 8912748 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323774 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16380913|PMID:20177705|PMID:28492532 8912748 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:1323774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16672222 8912748 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8912748 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:630 genetic disease ISO RGD:1323774 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8912748 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:9001341 Chloracne ISO RGD:1323774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8912748 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:9004820 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to ISO RGD:1323774 D RGD:7240710 20180130 OMIM 8912748 Nt5c3a 5'-nucleotidase, cytosolic IIIA gene DOID:9004820 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to ISO RGD:1323774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UMPH1 DEFICIENCY | ClinVar Annotator: match by term: Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to PMID:11369620|PMID:12714505|PMID:12930399|PMID:15238149|PMID:25741868|PMID:28492532|PMID:6310729 8912779 Grhl2 grainyhead like transcription factor 2 gene DOID:0080669 posterior polymorphous corneal dystrophy 4 ISO RGD:1342517 D RGD:7240710 20190315 OMIM 8912779 Grhl2 grainyhead like transcription factor 2 gene DOID:0080669 posterior polymorphous corneal dystrophy 4 ISO RGD:1342517 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous, 4 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29499165 8912779 Grhl2 grainyhead like transcription factor 2 gene DOID:0110557 autosomal dominant nonsyndromic deafness 28 ISO RGD:1342517 D RGD:7240710 20180130 OMIM 8912779 Grhl2 grainyhead like transcription factor 2 gene DOID:0110557 autosomal dominant nonsyndromic deafness 28 ISO RGD:1342517 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 28 PMID:12393799|PMID:23813623|PMID:24033266|PMID:25741868|PMID:28492532 8912779 Grhl2 grainyhead like transcription factor 2 gene DOID:0111590 Cohen syndrome ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8912779 Grhl2 grainyhead like transcription factor 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 8912779 Grhl2 grainyhead like transcription factor 2 gene DOID:2566 corneal dystrophy ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy PMID:29499165 8912779 Grhl2 grainyhead like transcription factor 2 gene DOID:630 genetic disease ISO RGD:1342517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8912779 Grhl2 grainyhead like transcription factor 2 gene DOID:9004538 Hearing Loss ISO RGD:1342517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8912779 Grhl2 grainyhead like transcription factor 2 gene DOID:9008992 ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME ISO RGD:1342517 D RGD:7240710 20180130 OMIM 8912779 Grhl2 grainyhead like transcription factor 2 gene DOID:9008992 ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME ISO RGD:1342517 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome PMID:24033266|PMID:25152456|PMID:25741868|PMID:28492532 8912813 Znf212 zinc finger protein 212 gene DOID:630 genetic disease ISO RGD:1317263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912829 Cyria CYFIP related Rac1 interactor A gene DOID:5723 optic atrophy ISO RGD:1348694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 8912829 Cyria CYFIP related Rac1 interactor A gene DOID:630 genetic disease ISO RGD:1348694 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912829 Cyria CYFIP related Rac1 interactor A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8912857 Ttll1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8912857 Ttll1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:1059 intellectual disability ISO RGD:1319289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8912857 Ttll1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:630 genetic disease ISO RGD:1319289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912857 Ttll1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1319289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8912857 Ttll1 TTL family tubulin polyglutamylase complex subunit L1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319290 D RGD:9068941 20220825 MouseDO 8912876 LOC102015388 cytochrome b5 reductase 4 gene DOID:630 genetic disease ISO RGD:733318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912876 LOC102015388 cytochrome b5 reductase 4 gene DOID:9351 diabetes mellitus ISO RGD:1622875 D RGD:9068941 20200609 RGD PMID:15247412|REF_RGD_ID:2315644 8912876 LOC102015388 cytochrome b5 reductase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1622875 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8912876 LOC102015388 cytochrome b5 reductase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733318 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVSV+7TC (human) PMID:15504981|REF_RGD_ID:2315647 8912896 Dusp19 dual specificity phosphatase 19 gene DOID:13938 amenorrhea ISO RGD:1316661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8912896 Dusp19 dual specificity phosphatase 19 gene DOID:630 genetic disease ISO RGD:1316661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912907 Kcnk15 potassium two pore domain channel subfamily K member 15 gene DOID:2234 focal epilepsy ISO RGD:1345243 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8912907 Kcnk15 potassium two pore domain channel subfamily K member 15 gene DOID:630 genetic disease ISO RGD:1345243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912907 Kcnk15 potassium two pore domain channel subfamily K member 15 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1345243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8912923 Psmb3 proteasome 20S subunit beta 3 gene DOID:630 genetic disease ISO RGD:734194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912942 Znf775 zinc finger protein 775 gene DOID:2843 long QT syndrome ISO RGD:1603510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 8912942 Znf775 zinc finger protein 775 gene DOID:630 genetic disease ISO RGD:1603510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912959 Prss38 serine protease 38 gene DOID:1540 parathyroid carcinoma ISO RGD:1606403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8912959 Prss38 serine protease 38 gene DOID:630 genetic disease ISO RGD:1606403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912959 Prss38 serine protease 38 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8912965 Tslp thymic stromal lymphopoietin gene DOID:0050211 swine influenza treatment ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:32060507|REF_RGD_ID:38549590 8912965 Tslp thymic stromal lymphopoietin gene DOID:0060496 respiratory allergy ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28329851 8912965 Tslp thymic stromal lymphopoietin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604556 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8912965 Tslp thymic stromal lymphopoietin gene DOID:10112 sleeping sickness susceptibility ISO RGD:1621562 D RGD:9068941 20200903 RGD protein:increased expression:serum (mouse) PMID:28769924|REF_RGD_ID:38549587 8912965 Tslp thymic stromal lymphopoietin gene DOID:10459 common cold ISO RGD:1604556 D RGD:9068941 20200904 RGD protein:increased expression:nasal mucus (human) PMID:28471975|REF_RGD_ID:38596342 8912965 Tslp thymic stromal lymphopoietin gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:11920357|REF_RGD_ID:38549592 8912965 Tslp thymic stromal lymphopoietin gene DOID:12365 malaria ISO RGD:1621562 D RGD:9068941 20200904 RGD mRNA:altered expression:multiple (mouse) PMID:28955823|REF_RGD_ID:38596344 8912965 Tslp thymic stromal lymphopoietin gene DOID:1252 trichuriasis susceptibility ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:19273626|REF_RGD_ID:38549593 8912965 Tslp thymic stromal lymphopoietin gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1604556 D RGD:9068941 20200904 RGD protein:increased expression:nasal mucus (human) PMID:28471975|REF_RGD_ID:38596342 8912965 Tslp thymic stromal lymphopoietin gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:27156176|REF_RGD_ID:38549376 8912965 Tslp thymic stromal lymphopoietin gene DOID:1273 respiratory syncytial virus infectious disease sexual_dimorphism ISO RGD:1621562 D RGD:9068941 20200910 RGD mRNA:increased expression:lung (mouse) PMID:31076663|REF_RGD_ID:38596346 8912965 Tslp thymic stromal lymphopoietin gene DOID:13922 eosinophilic esophagitis ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208534 8912965 Tslp thymic stromal lymphopoietin gene DOID:2841 asthma ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804549 8912965 Tslp thymic stromal lymphopoietin gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686814 8912965 Tslp thymic stromal lymphopoietin gene DOID:3042 allergic contact dermatitis treatment ISO RGD:1621562 D RGD:9068941 20200910 RGD PMID:30187507|REF_RGD_ID:38596345 8912965 Tslp thymic stromal lymphopoietin gene DOID:3107 toxascariasis ISO RGD:1621562 D RGD:9068941 20200910 RGD mRNA:increased expression:multiple (mouse) PMID:24327787|REF_RGD_ID:38596353 8912965 Tslp thymic stromal lymphopoietin gene DOID:3310 atopic dermatitis ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16880407|PMID:22355542|PMID:23688403|PMID:27869817 8912965 Tslp thymic stromal lymphopoietin gene DOID:3310 atopic dermatitis treatment ISO RGD:1621562 D RGD:9068941 20201225 RGD PMID:29310423|REF_RGD_ID:38549374 8912965 Tslp thymic stromal lymphopoietin gene DOID:630 genetic disease ISO RGD:1604556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8912965 Tslp thymic stromal lymphopoietin gene DOID:684 hepatocellular carcinoma ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8912965 Tslp thymic stromal lymphopoietin gene DOID:9001542 Albuminuria ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686814 8912965 Tslp thymic stromal lymphopoietin gene DOID:9002869 Schistosomiasis Mansoni treatment ISO RGD:1621562 D RGD:9068941 20200910 RGD PMID:22882457|REF_RGD_ID:38596354 8912965 Tslp thymic stromal lymphopoietin gene DOID:9003470 Picornaviridae Infections ISO RGD:1621562 D RGD:9068941 20200904 RGD mRNA, protein:increased expression:lung,bronchoalveolar lavage fluid (mouse) PMID:26100084|REF_RGD_ID:11085671 8912965 Tslp thymic stromal lymphopoietin gene DOID:9003470 Picornaviridae Infections ISO RGD:1621562 D RGD:9068941 20201001 RGD protein:increased expression:lung (mouse) PMID:28701507|REF_RGD_ID:38596334 8912965 Tslp thymic stromal lymphopoietin gene DOID:9004055 Fungal Keratitis disease_progression ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:29550278|PMID:30853520|REF_RGD_ID:38549371|REF_RGD_ID:38549574 8912965 Tslp thymic stromal lymphopoietin gene DOID:9004092 cryoglobulinemic vasculitis ISO RGD:1604556 D RGD:9068941 20200903 RGD associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) PMID:25889007|REF_RGD_ID:38596329 8912965 Tslp thymic stromal lymphopoietin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8912965 Tslp thymic stromal lymphopoietin gene DOID:9004484 Sepsis disease_progression ISO RGD:1621562 D RGD:9068941 20200904 RGD protein:increased expression:peritoneum, plasma (mouse) PMID:26934097|REF_RGD_ID:38596335 8912965 Tslp thymic stromal lymphopoietin gene DOID:9004484 Sepsis treatment ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:24990542|REF_RGD_ID:38549375 8912965 Tslp thymic stromal lymphopoietin gene DOID:9005372 Inflammation ISO RGD:1604556 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28329851 8912965 Tslp thymic stromal lymphopoietin gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:1604556 D RGD:9068941 20200904 RGD mRNA, protein:increased expression:nasal mucus (human) PMID:28471975|REF_RGD_ID:38596342 8912965 Tslp thymic stromal lymphopoietin gene DOID:9006966 Pseudomonas Aeruginosa Keratitis severity ISO RGD:1621562 D RGD:9068941 20200903 RGD PMID:30128494|REF_RGD_ID:38596331 8912965 Tslp thymic stromal lymphopoietin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604556 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8912965 Tslp thymic stromal lymphopoietin gene DOID:9784 trichinosis disease_progression ISO RGD:1621562 D RGD:9068941 20200904 RGD PMID:23024277|REF_RGD_ID:38596337 8912971 Bod1l1 biorientation of chromosomes in cell division 1 like 1 gene DOID:630 genetic disease ISO RGD:1344806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913013 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8913013 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis 8913013 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8913013 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8913013 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1345627 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8913013 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8913013 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8913013 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:630 genetic disease ISO RGD:1345627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913013 Zbtb46 zinc finger and BTB domain containing 46 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:731553 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:25761052|PMID:28492532|PMID:30755392|PMID:33432707 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731553 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14566705|PMID:14572143|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15507143|PMID:15670229|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16864840|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18519871|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:19909266|PMID:20016818|PMID:20301435|PMID:20826436|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21560189|PMID:22073122|PMID:22238342|PMID:22430157|PMID:22699478|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25230711|PMID:25326635|PMID:25457085|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:26671108|PMID:26901872|PMID:27651498|PMID:27665184|PMID:27779215|PMID:28306143|PMID:28334938|PMID:28492532|PMID:28914269|PMID:28939701|PMID:28953922|PMID:29933199|PMID:29995139|PMID:30315562|PMID:30755392|PMID:31418856|PMID:32293553|PMID:33432707|PMID:34745209 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:731553 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14566705|PMID:14572143|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15507143|PMID:15670229|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16807905|PMID:16864840|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18519871|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:19909266|PMID:20016818|PMID:20301435|PMID:20826436|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21560189|PMID:22073122|PMID:22238342|PMID:22430157|PMID:22699478|PMID:22737209|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25230711|PMID:25326635|PMID:25457085|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:26671108|PMID:26901872|PMID:27651498|PMID:27665184|PMID:27779215|PMID:28306143|PMID:28334938|PMID:28492532|PMID:28914269|PMID:28939701|PMID:28953922|PMID:29933199|PMID:29995139|PMID:30315562|PMID:30755392|PMID:31418856|PMID:32293553|PMID:33432707|PMID:34745209|PMID:34751098|PMID:35389136 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0070367 leukoencephalopathy with vanishing white matter 5 ISO RGD:731553 D RGD:7240710 20230505 OMIM 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0070367 leukoencephalopathy with vanishing white matter 5 ISO RGD:731553 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cree leukoencephalopathy | ClinVar Annotator: match by term: EIF2B5-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5 PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15136690|PMID:15507143|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16864840|PMID:17119336|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:20301435|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22238342|PMID:22699478|PMID:22737209|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:27665184|PMID:27779215|PMID:28492532|PMID:28914269|PMID:29933199|PMID:29995139|PMID:32293553|PMID:33432707|PMID:34745209 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0070374 leukoencephalopathy with vanishing white matter 1 ISO RGD:731553 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 PMID:11704758|PMID:14993275|PMID:15136673|PMID:15776425|PMID:16864840|PMID:18005052|PMID:19158808|PMID:21560189|PMID:22699478|PMID:25741868|PMID:25761052|PMID:27779215|PMID:28492532|PMID:29933199|PMID:29995139|PMID:33432707 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:731553 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:731553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:0111546 Currarino syndrome ISO RGD:731553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:10579 leukodystrophy ISO RGD:731553 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:25761052|PMID:28492532|PMID:30755392|PMID:33432707 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:10581 metachromatic leukodystrophy ISO RGD:731553 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:25761052|PMID:28492532|PMID:30755392|PMID:33432707 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:3910 lung adenocarcinoma ISO RGD:731553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:543 dystonia ISO RGD:731553 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:11704758|PMID:15136673|PMID:17646634|PMID:21307862|PMID:25089094|PMID:25741868|PMID:25761052|PMID:28492532|PMID:30755392|PMID:33432707 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:630 genetic disease ISO RGD:731553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11704758|PMID:12707859|PMID:14993275|PMID:22699478|PMID:25089094|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31418856 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9002704 Leukoencephalopathies ISO RGD:731553 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination | ClinVar Annotator: match by term: Leukoencephalopathy | ClinVar Annotator: match by term: Myelinosis centralis diffusa PMID:11704758|PMID:12325082|PMID:12499492|PMID:12707859|PMID:14566705|PMID:14572143|PMID:14694060|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15136689|PMID:15507143|PMID:15670229|PMID:15723074|PMID:15776425|PMID:16041584|PMID:16807905|PMID:16864840|PMID:17439913|PMID:17646634|PMID:18005052|PMID:18263758|PMID:18266750|PMID:18294360|PMID:18519871|PMID:18678442|PMID:18813718|PMID:18845387|PMID:19023445|PMID:19158808|PMID:19170749|PMID:19531691|PMID:19625339|PMID:19909266|PMID:20016818|PMID:20301435|PMID:20826436|PMID:20958979|PMID:20975056|PMID:21307862|PMID:21560189|PMID:22073122|PMID:22238342|PMID:22430157|PMID:22699478|PMID:22737209|PMID:22952606|PMID:23065789|PMID:24033266|PMID:24482476|PMID:24938145|PMID:25089094|PMID:25230711|PMID:25326635|PMID:25457085|PMID:25525159|PMID:25681447|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26112719|PMID:26467025|PMID:26506339|PMID:26626314|PMID:26671108|PMID:26901872|PMID:27651498|PMID:27665184|PMID:27779215|PMID:28306143|PMID:28334938|PMID:28492532|PMID:28914269|PMID:28939701|PMID:28953922|PMID:29933199|PMID:29995139|PMID:30315562|PMID:30755392|PMID:31418856|PMID:32293553|PMID:33432707|PMID:34745209|PMID:34751098|PMID:35389136 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9004484 Sepsis ISO RGD:708380 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:gastrocnemius PMID:12376332|REF_RGD_ID:11041880 8913038 Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon gene DOID:9008824 Sarcopenia ISO RGD:708380 D RGD:9068941 20200609 RGD PMID:15187001|REF_RGD_ID:10395315 8913061 Taok2 TAO kinase 2 gene DOID:0060019 coronin-1A deficiency ISO RGD:1351729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8913061 Taok2 TAO kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8913061 Taok2 TAO kinase 2 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1351729 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8913061 Taok2 TAO kinase 2 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1351729 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8913061 Taok2 TAO kinase 2 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1351729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8913061 Taok2 TAO kinase 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1351729 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8913061 Taok2 TAO kinase 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1351729 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8913061 Taok2 TAO kinase 2 gene DOID:12849 autistic disorder ISO RGD:1351729 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 8913061 Taok2 TAO kinase 2 gene DOID:5419 schizophrenia ISO RGD:1351729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8913061 Taok2 TAO kinase 2 gene DOID:630 genetic disease ISO RGD:1351729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8913061 Taok2 TAO kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8913061 Taok2 TAO kinase 2 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1351729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8913105 Slco2b1 solute carrier organic anion transporter family member 2B1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:736486 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8913105 Slco2b1 solute carrier organic anion transporter family member 2B1 gene DOID:1059 intellectual disability ISO RGD:736486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8913105 Slco2b1 solute carrier organic anion transporter family member 2B1 gene DOID:1793 pancreatic cancer ISO RGD:736486 D RGD:9068941 20220623 RGD mRNA:decreased expression:pancreas (human) PMID:21625523|REF_RGD_ID:152995425 8913105 Slco2b1 solute carrier organic anion transporter family member 2B1 gene DOID:3571 liver cancer disease_progression ISO RGD:736486 D RGD:9068941 20220623 RGD mRNA:decreased expression:liver (human) PMID:21625523|REF_RGD_ID:152995425 8913105 Slco2b1 solute carrier organic anion transporter family member 2B1 gene DOID:630 genetic disease ISO RGD:736486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913123 Plaat5 phospholipase A and acyltransferase 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8913123 Plaat5 phospholipase A and acyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1606473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8913123 Plaat5 phospholipase A and acyltransferase 5 gene DOID:630 genetic disease ISO RGD:1606473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913137 Matcap2 microtubule associated tyrosine carboxypeptidase 2 gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1603687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 8913137 Matcap2 microtubule associated tyrosine carboxypeptidase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8913137 Matcap2 microtubule associated tyrosine carboxypeptidase 2 gene DOID:630 genetic disease ISO RGD:1603687 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913164 Arid4a AT-rich interaction domain 4A gene DOID:0110992 Joubert syndrome 23 ISO RGD:1316636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 8913164 Arid4a AT-rich interaction domain 4A gene DOID:630 genetic disease ISO RGD:1316636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913164 Arid4a AT-rich interaction domain 4A gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8913164 Arid4a AT-rich interaction domain 4A gene DOID:9119 acute myeloid leukemia ISO RGD:1316637 D RGD:9068941 20220825 MouseDO OMIM:601626 8913164 Arid4a AT-rich interaction domain 4A gene DOID:9538 multiple myeloma ISO RGD:1316636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8913203 Ccng1 cyclin G1 gene DOID:0050933 ovarian serous carcinoma severity ISO RGD:735830 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:ovary (human) PMID:30565428|REF_RGD_ID:151361205 8913203 Ccng1 cyclin G1 gene DOID:0081292 traumatic brain injury treatment ISO RGD:2295 D RGD:9068941 20220218 RGD PMID:18612315|PMID:24398934|REF_RGD_ID:151356934|REF_RGD_ID:151356935 8913203 Ccng1 cyclin G1 gene DOID:10652 Alzheimer's disease ISO RGD:735830 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron PMID:12214116|REF_RGD_ID:2316025 8913203 Ccng1 cyclin G1 gene DOID:11054 urinary bladder cancer ISO RGD:735830 D RGD:9068941 20220303 RGD mRNA:decreased expression:bladder (human) PMID:27982046|REF_RGD_ID:151361200 8913203 Ccng1 cyclin G1 gene DOID:1115 sarcoma ISO RGD:735830 D RGD:9068941 20220303 RGD mRNA:decreased expression: (human) PMID:27982046|REF_RGD_ID:151361200 8913203 Ccng1 cyclin G1 gene DOID:1115 sarcoma treatment ISO RGD:735830 D RGD:9068941 20220303 RGD PMID:19532136|REF_RGD_ID:151361204 8913203 Ccng1 cyclin G1 gene DOID:11166 papillomavirus infectious disease disease_progression ISO RGD:735830 D RGD:9068941 20220225 RGD associated with cervix carcinoma; protein:increased expression:cervix (human) PMID:16845792|REF_RGD_ID:2316022 8913203 Ccng1 cyclin G1 gene DOID:11934 head and neck cancer ISO RGD:735830 D RGD:9068941 20220303 RGD mRNA:decreased expression:head and neck (human) PMID:27982046|REF_RGD_ID:151361200 8913203 Ccng1 cyclin G1 gene DOID:127 leiomyoma ISO RGD:735830 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterus, myometrium PMID:12634633|REF_RGD_ID:2316023 8913203 Ccng1 cyclin G1 gene DOID:1324 lung cancer treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:25472877|REF_RGD_ID:151361106 8913203 Ccng1 cyclin G1 gene DOID:1612 breast cancer treatment ISO RGD:2295 D RGD:9068941 20220217 RGD PMID:23791885|REF_RGD_ID:151356928 8913203 Ccng1 cyclin G1 gene DOID:1793 pancreatic cancer treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:11177556|REF_RGD_ID:151361109 8913203 Ccng1 cyclin G1 gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:735830 D RGD:9068941 20220224 RGD protein:increased expression:ovary (human) PMID:25981880|REF_RGD_ID:11055572 8913203 Ccng1 cyclin G1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:5552939 D RGD:9068941 20220224 RGD human cells in mouse model PMID:33760168|REF_RGD_ID:151356990 8913203 Ccng1 cyclin G1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735830 D RGD:9068941 20220224 RGD DNA:amplification:ovary (human) PMID:22056875|REF_RGD_ID:151361152 8913203 Ccng1 cyclin G1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735830 D RGD:9068941 20220224 RGD mRNA:increased expression:ovary (human) PMID:32271408|REF_RGD_ID:151356992 8913203 Ccng1 cyclin G1 gene DOID:3356 localized osteosarcoma treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:9322869|REF_RGD_ID:151356969 8913203 Ccng1 cyclin G1 gene DOID:3458 breast adenocarcinoma ISO RGD:735831 D RGD:9068941 20220303 RGD mRNA, protein:altered expression:mammary (mouse) PMID:11146550|REF_RGD_ID:2315939 8913203 Ccng1 cyclin G1 gene DOID:4001 ovarian carcinoma ISO RGD:1349177 D RGD:9068941 20220224 RGD human cells in mouse model PMID:26872615|REF_RGD_ID:11555725 8913203 Ccng1 cyclin G1 gene DOID:4001 ovarian carcinoma ISO RGD:735830 D RGD:9068941 20220224 RGD mRNA:increased expression:ovary (human) PMID:26872615|REF_RGD_ID:11555725 8913203 Ccng1 cyclin G1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8913203 Ccng1 cyclin G1 gene DOID:630 genetic disease ISO RGD:735830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8913203 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma ISO RGD:620761 D RGD:9068941 20220217 RGD PMID:25431954|REF_RGD_ID:151356922 8913203 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:23804702|REF_RGD_ID:151356967 8913203 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma ISO RGD:735831 D RGD:9068941 20220303 RGD PMID:27982046|REF_RGD_ID:151361200 8913203 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735830 D RGD:9068941 20220224 RGD protein:increased expression:liver (human) PMID:23804702|REF_RGD_ID:151356967 8913203 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735830 D RGD:9068941 20220224 RGD protein:increased expression:liver (human) PMID:19584283|REF_RGD_ID:151356981 8913203 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735830 D RGD:9068941 20220303 RGD protein:decreased expression:liver (human) PMID:22835824|REF_RGD_ID:151361198 8913203 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2295 D RGD:9068941 20220218 RGD PMID:24034575|PMID:26345095|REF_RGD_ID:151356932|REF_RGD_ID:151356933 8913203 Ccng1 cyclin G1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:33543294|REF_RGD_ID:151356970 8913203 Ccng1 cyclin G1 gene DOID:767 muscular atrophy ISO RGD:2295 D RGD:9068941 20220224 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) PMID:14638460|REF_RGD_ID:151361116 8913203 Ccng1 cyclin G1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:735830 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16845792|REF_RGD_ID:2316022 8913203 Ccng1 cyclin G1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8913203 Ccng1 cyclin G1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735831 D RGD:9068941 20220303 RGD PMID:27982046|REF_RGD_ID:151361200 8913203 Ccng1 cyclin G1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:735830 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16845792|REF_RGD_ID:2316022 8913203 Ccng1 cyclin G1 gene DOID:9004009 Reperfusion Injury ISO RGD:2295 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:9698156|REF_RGD_ID:2316027 8913203 Ccng1 cyclin G1 gene DOID:9005172 Lung Neoplasms ISO RGD:735830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289808 8913203 Ccng1 cyclin G1 gene DOID:9006618 Liver Metastasis treatment ISO RGD:735830 D RGD:9068941 20220224 RGD human cells in mouse model PMID:10910035|REF_RGD_ID:151356987 8913203 Ccng1 cyclin G1 gene DOID:9009121 lung metastasis ISO RGD:735831 D RGD:9068941 20220303 RGD PMID:30565428|REF_RGD_ID:151361205 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:0050437 Danon disease ISO RGD:735952 D RGD:7240710 20180130 OMIM 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:0050437 Danon disease ISO RGD:735952 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy PMID:10972294|PMID:12112061|PMID:14598234|PMID:15253947|PMID:15673802|PMID:15792868|PMID:15889279|PMID:15907287|PMID:16144992|PMID:16190986|PMID:16199547|PMID:16217705|PMID:16565504|PMID:17576681|PMID:17899313|PMID:18061453|PMID:18282207|PMID:18312451|PMID:18555174|PMID:18990578|PMID:19318653|PMID:19373884|PMID:19533775|PMID:20173215|PMID:20445193|PMID:20960602|PMID:21070164|PMID:21415759|PMID:21520333|PMID:21896538|PMID:22074992|PMID:22695892|PMID:23168931|PMID:23785128|PMID:23955649|PMID:24033266|PMID:24503780|PMID:24691104|PMID:25091525|PMID:25326635|PMID:25458169|PMID:25525159|PMID:25611685|PMID:25640679|PMID:25741868|PMID:25826782|PMID:26748608|PMID:27179547|PMID:27460667|PMID:27532257|PMID:27600940|PMID:27678261|PMID:27816333|PMID:28255936|PMID:28491796|PMID:28492532|PMID:28771489|PMID:28822614|PMID:28874292|PMID:29753918|PMID:29875424|PMID:29915097|PMID:29961767|PMID:30019023|PMID:30108015|PMID:30847666|PMID:3087571|PMID:30984009|PMID:31464081|PMID:31638414|PMID:31729179|PMID:33226119|PMID:33495597|PMID:34906502|PMID:6408499|PMID:6450334|PMID:8504498|PMID:9536098 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:735952 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:19533775|PMID:23785128|PMID:24033266|PMID:24503780|PMID:25091525|PMID:25741868|PMID:26748608|PMID:27600940|PMID:28492532|PMID:28771489|PMID:30984009|PMID:31464081|PMID:32150461|PMID:33495597 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:735952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:735952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:28492532 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:0081292 traumatic brain injury ISO RGD:2990 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:28365875|REF_RGD_ID:13703062 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:735952 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:1059 intellectual disability ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23785128|PMID:24033266|PMID:25091525|PMID:25741868|PMID:27600940|PMID:28492532|PMID:28771489 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:11446 sciatic neuropathy treatment ISO RGD:2990 D RGD:9068941 20200609 RGD PMID:30015858|REF_RGD_ID:13703060 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:735952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15673802|PMID:16199547|PMID:16217705|PMID:17576681|PMID:18282207|PMID:18555174|PMID:19318653|PMID:19373884|PMID:19533775|PMID:21415759|PMID:24033266|PMID:24503780|PMID:25458169|PMID:25525159|PMID:25611685|PMID:25741868|PMID:26748608|PMID:27532257|PMID:28492532|PMID:29753918|PMID:9536098 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:12849 autistic disorder ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21415759|PMID:24033266|PMID:25741868|PMID:28492532 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:13580 cholestasis ISO RGD:2990 D RGD:9068941 20200609 RGD in hemizygote mutant male (LAMP2y/-) PMID:28124283|REF_RGD_ID:13703118 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:1561 cognitive disorder ISO RGD:2990 D RGD:9068941 20200609 RGD in hemizygote mutant male (LAMP2y/-) PMID:29720683|REF_RGD_ID:13703117 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:1824 status epilepticus ISO RGD:735952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19272430 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:2475 chronic conjunctivitis ISO RGD:2990 D RGD:9068941 20200609 RGD in hemizygote mutant male (LAMP2y/-) PMID:29720683|REF_RGD_ID:13703117 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:5844 myocardial infarction ISO RGD:2990 D RGD:9068941 20200609 RGD mRNA:increased expression:plantaris PMID:24427319|REF_RGD_ID:11557988 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:630 genetic disease ISO RGD:735952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:735952 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium PMID:10972294|PMID:25741868 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:10857 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:10857 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:22850625|REF_RGD_ID:11560530 8913213 Lamp2 lysosomal associated membrane protein 2 gene DOID:9007905 Trifascicular Block ISO RGD:735952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trifascicular block on electrocardiogram PMID:28492532 8913232 Vezf1 vascular endothelial zinc finger 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1317608 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8913232 Vezf1 vascular endothelial zinc finger 1 gene DOID:1059 intellectual disability ISO RGD:1317608 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8913232 Vezf1 vascular endothelial zinc finger 1 gene DOID:630 genetic disease ISO RGD:1317608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913232 Vezf1 vascular endothelial zinc finger 1 gene DOID:9006997 Dilated Cardiomyopathy 1OO ISO RGD:1317608 D RGD:7240710 20230505 OMIM 8913232 Vezf1 vascular endothelial zinc finger 1 gene DOID:9006997 Dilated Cardiomyopathy 1OO ISO RGD:1317608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1OO PMID:36657711 8913244 Asl argininosuccinate lyase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:731559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:25741868|PMID:34008892 8913244 Asl argininosuccinate lyase gene DOID:12803 Sly syndrome ISO RGD:731559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sly syndrome PMID:19224584|PMID:28492532 8913244 Asl argininosuccinate lyase gene DOID:14755 argininosuccinic aciduria ISO RGD:731559 D RGD:7240710 20180130 OMIM 8913244 Asl argininosuccinate lyase gene DOID:14755 argininosuccinic aciduria ISO RGD:731559 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria PMID:10896281|PMID:11698398|PMID:11747432|PMID:11747433|PMID:12384776|PMID:12408190|PMID:15164414|PMID:15273245|PMID:16199547|PMID:16435180|PMID:16941645|PMID:1705937|PMID:17326097|PMID:17551924|PMID:17576681|PMID:18042262|PMID:18616627|PMID:19224584|PMID:19703900|PMID:20236848|PMID:20298553|PMID:21290785|PMID:21667091|PMID:21710918|PMID:21744316|PMID:22081021|PMID:22231378|PMID:22541557|PMID:2263616|PMID:23430928|PMID:24033266|PMID:24136197|PMID:24166829|PMID:24516753|PMID:24927999|PMID:25087612|PMID:25433810|PMID:25525159|PMID:25741868|PMID:25778938|PMID:26589311|PMID:26661037|PMID:26745957|PMID:26843370|PMID:27515243|PMID:27604308|PMID:28251416|PMID:28492532|PMID:28600779|PMID:29326055|PMID:29493581|PMID:29773863|PMID:30285816|PMID:31030429|PMID:31056765|PMID:31130284|PMID:31156699|PMID:31183366|PMID:31426867|PMID:31515792|PMID:31589614|PMID:31709144|PMID:31737040|PMID:31943503|PMID:31980526|PMID:31990680|PMID:32410394|PMID:32778825|PMID:33373331|PMID:33514801|PMID:33611823|PMID:33851512|PMID:34374989|PMID:34405919|PMID:705937|PMID:9045711|PMID:9256435|PMID:9536098|PMID:9686346 8913244 Asl argininosuccinate lyase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8913244 Asl argininosuccinate lyase gene DOID:630 genetic disease ISO RGD:731559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11747432|PMID:17551924|PMID:18042262|PMID:20236848|PMID:24166829|PMID:25741868|PMID:25778938|PMID:26661037|PMID:28251416|PMID:28492532|PMID:29493581|PMID:30285816|PMID:31056765|PMID:31943503|PMID:34405919 8913244 Asl argininosuccinate lyase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731559 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 8913244 Asl argininosuccinate lyase gene DOID:9002669 Hypoxia ISO RGD:619974 D RGD:9068941 20200609 RGD protein:increased activity:brain (rat) PMID:20567615|REF_RGD_ID:4110824 8913244 Asl argininosuccinate lyase gene DOID:9004009 Reperfusion Injury resistance ISO RGD:619974 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron (rat) PMID:17198704|REF_RGD_ID:1599263 8913244 Asl argininosuccinate lyase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731559 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12384776|PMID:16941645|PMID:1705937|PMID:21710918|PMID:24166829|PMID:25741868|PMID:28492532|PMID:31943503|PMID:9045711 8913244 Asl argininosuccinate lyase gene DOID:9005930 Endotoxemia ISO RGD:619974 D RGD:9068941 20200609 RGD PMID:10652239|REF_RGD_ID:1599265 8913244 Asl argininosuccinate lyase gene DOID:9007480 Hyperoxia ISO RGD:619974 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:20805789|REF_RGD_ID:4142785 8913244 Asl argininosuccinate lyase gene DOID:9007874 Liver Failure ISO RGD:619974 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11779202|REF_RGD_ID:70249 8913244 Asl argininosuccinate lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:731559 D RGD:9068941 20200609 RGD Argininosuccinic Aciduria; DNA:mutations:multiple (human) PMID:2263616|REF_RGD_ID:734610 8913244 Asl argininosuccinate lyase gene DOID:9352 type 2 diabetes mellitus ISO RGD:731559 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte PMID:16121806|REF_RGD_ID:2314010 8913259 Tppp3 tubulin polymerization promoting protein family member 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8913259 Tppp3 tubulin polymerization promoting protein family member 3 gene DOID:630 genetic disease ISO RGD:1604620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913288 Znf536 zinc finger protein 536 gene DOID:4450 renal cell carcinoma ISO RGD:1351769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8913288 Znf536 zinc finger protein 536 gene DOID:630 genetic disease ISO RGD:1351769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913288 Znf536 zinc finger protein 536 gene DOID:9002189 High Myopia ISO RGD:1351769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8913288 Znf536 zinc finger protein 536 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351769 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:0050424 familial adenomatous polyposis ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28255344 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:large intestine PMID:16425351|REF_RGD_ID:2289356 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16208414|PMID:17349212 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:10283 prostate cancer disease_progression ISO RGD:737036 D RGD:9068941 20211126 RGD DNA:hypermethylation:prostate gland PMID:17998819|REF_RGD_ID:2289346 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:1059 intellectual disability ISO RGD:737036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:11054 urinary bladder cancer ISO RGD:737036 D RGD:9068941 20200609 RGD PMID:16321281|REF_RGD_ID:2289357 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:12306 vitiligo ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:13580 cholestasis ISO RGD:2307 D RGD:9068941 20200609 RGD protein:decreased expression:jejunum, ileum PMID:16804311|REF_RGD_ID:2289372 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:1793 pancreatic cancer ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17446842 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:2154 nephroblastoma ISO RGD:737036 D RGD:9068941 20200609 RGD PMID:12131349|REF_RGD_ID:2289361 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:2377 multiple sclerosis ISO RGD:737036 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:2671 transitional cell carcinoma ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:kidney pelvis, ureter PMID:10022688|REF_RGD_ID:2289363 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:2773 contact dermatitis ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:2986 IgA glomerulonephritis ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:3007 breast ductal carcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:breast PMID:16425351|REF_RGD_ID:2289356 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17059779|REF_RGD_ID:2289352 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:3021 acute kidney failure ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:3457 invasive lobular carcinoma ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variants, altered localization:breast PMID:11245336|REF_RGD_ID:2289362 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:37 skin disease ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:stomach PMID:16425351|REF_RGD_ID:2289356 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:3883 Lynch syndrome ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28255344 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:3910 lung adenocarcinoma ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:lung PMID:18091389|REF_RGD_ID:2289345 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:737036 D RGD:9068941 20210723 RGD mRNA:increased expression:lung (human) PMID:29537891|REF_RGD_ID:149735539 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD PMID:12833185|REF_RGD_ID:2289360 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:4450 renal cell carcinoma severity ISO RGD:737036 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17284111|REF_RGD_ID:2289351 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:5138 leiomyomatosis ISO RGD:737036 D RGD:9068941 20200609 RGD PMID:15762960|REF_RGD_ID:2296043 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:5154 borna disease ISO RGD:2307 D RGD:9068941 20200609 RGD PMID:16612977|REF_RGD_ID:2289373 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:585 nephrolithiasis ISO RGD:737036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:24886237 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:630 genetic disease ISO RGD:737036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:769 neuroblastoma ISO RGD:737036 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9000081 Lymphatic Metastasis ISO RGD:737036 D RGD:9068941 20200609 RGD associated with Breast Neoplasms, Colorectal Neoplasms, Stomach Neoplasms;mRNA, protein:splice variant, increased expression:breast, large intestine, stomach PMID:16425351|REF_RGD_ID:2289356 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9000217 Stomach Neoplasms ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21471434 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9000918 Disease Progression ISO RGD:737036 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9000965 Neoplasm Metastasis ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23098472 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9000965 Neoplasm Metastasis ISO RGD:737036 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:kidney PMID:18026989|REF_RGD_ID:2289347 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9002315 Kidney Calculi ISO RGD:2307 D RGD:9068941 20200609 RGD PMID:16850024|REF_RGD_ID:2289370 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9002457 Experimental Arthritis ISO RGD:2307 D RGD:9068941 20200609 RGD protein:increased expression:joint, macrophage, lymphocyte PMID:8639178|REF_RGD_ID:2289388 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9002762 Ovarian Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:ovary PMID:18091389|REF_RGD_ID:2289345 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9002955 Nerve Degeneration ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15191797 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:16998464|REF_RGD_ID:2289353 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:uterine cervix PMID:17464868|REF_RGD_ID:2289350 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9003936 Cardiomegaly ISO RGD:2307 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery PMID:18196276|REF_RGD_ID:2289364 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:2307 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16786159|REF_RGD_ID:2289354 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:2307 D RGD:9068941 20200609 RGD protein:increased expression:testis, macrophage PMID:16891795|REF_RGD_ID:2289369 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9006618 Liver Metastasis ISO RGD:737036 D RGD:9068941 20200609 RGD associated with Breast Neoplasm;protein:increased expression:liver PMID:17991717|REF_RGD_ID:2289349 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:gastrointestinal system PMID:18091389|REF_RGD_ID:2289345 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9007096 Stroke ISO RGD:2307 D RGD:9068941 20200609 RGD PMID:16837837|REF_RGD_ID:2289371 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9007715 Endometrial Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA, protein:splice variant, increased expression:endometrium PMID:16308159|REF_RGD_ID:2289358 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:737036 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:14658589|REF_RGD_ID:2296044 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9007964 Arsenic Poisoning ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9008939 Breast Neoplasms ISO RGD:737036 D RGD:9068941 20200609 RGD mRNA:splice variants:breast PMID:18091389|REF_RGD_ID:2289345 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9119 acute myeloid leukemia ISO RGD:737036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23098472 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9498 pulmonary eosinophilia ISO RGD:10310 D RGD:9068941 20200609 RGD PMID:12750406|REF_RGD_ID:4145437 8913323 Cd44 CD44 molecule (IN blood group) gene DOID:9597 Krukenberg carcinoma ISO RGD:737036 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:16124061|REF_RGD_ID:2289359 8913376 Klhl7 kelch like family member 7 gene DOID:0050646 distal arthrogryposis ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:18414213|PMID:25741868|PMID:29074562 8913376 Klhl7 kelch like family member 7 gene DOID:0060294 cold-induced sweating syndrome ISO RGD:1313665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8913376 Klhl7 kelch like family member 7 gene DOID:0080329 cold-induced sweating syndrome 1 ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 PMID:25741868|PMID:27392078 8913376 Klhl7 kelch like family member 7 gene DOID:0080331 cold-induced sweating syndrome 3 ISO RGD:1313665 D RGD:7240710 20190315 OMIM 8913376 Klhl7 kelch like family member 7 gene DOID:0080331 cold-induced sweating syndrome 3 ISO RGD:1313665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome PMID:17576681|PMID:18414213|PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30300710|PMID:30426380|PMID:30997404|PMID:31953236|PMID:35670385|PMID:35699517|PMID:9536098 8913376 Klhl7 kelch like family member 7 gene DOID:0110386 retinitis pigmentosa 42 ISO RGD:1313665 D RGD:7240710 20180130 OMIM 8913376 Klhl7 kelch like family member 7 gene DOID:0110386 retinitis pigmentosa 42 ISO RGD:1313665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 42 PMID:17576681|PMID:1872134|PMID:19520207|PMID:21828050|PMID:22084217|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31856884|PMID:35670385|PMID:9536098 8913376 Klhl7 kelch like family member 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1313665 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19520207|PMID:21828050|PMID:25741868|PMID:27160483|PMID:28041643|PMID:28492532|PMID:31856884|PMID:32581362|PMID:34906470 8913376 Klhl7 kelch like family member 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8913376 Klhl7 kelch like family member 7 gene DOID:630 genetic disease ISO RGD:1313665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21828050|PMID:25741868|PMID:27392078|PMID:28492532|PMID:29074562|PMID:30426380|PMID:31953236 8913376 Klhl7 kelch like family member 7 gene DOID:8501 fundus dystrophy ISO RGD:1313665 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19520207|PMID:21828050|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31856884|PMID:32037395 8913376 Klhl7 kelch like family member 7 gene DOID:9001582 Bohring Syndrome ISO RGD:1313665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bohring-Opitz syndrome PMID:25741868 8913376 Klhl7 kelch like family member 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313665 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8913397 Sp2 Sp2 transcription factor gene DOID:630 genetic disease ISO RGD:1347414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913414 Pls1 plastin 1 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment PMID:30872814|PMID:31397523 8913414 Pls1 plastin 1 gene DOID:0112167 autosomal dominant nonsyndromic deafness 76 ISO RGD:1316159 D RGD:7240710 20200318 OMIM 8913414 Pls1 plastin 1 gene DOID:0112167 autosomal dominant nonsyndromic deafness 76 ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition PMID:25741868|PMID:30872814|PMID:31397523|PMID:31432506 8913414 Pls1 plastin 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:31397523 8913414 Pls1 plastin 1 gene DOID:630 genetic disease ISO RGD:1316159 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8913414 Pls1 plastin 1 gene DOID:9004538 Hearing Loss ISO RGD:1316159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness PMID:25741868|PMID:30872814|PMID:31397523|PMID:31432506 8913414 Pls1 plastin 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1316159 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114358 8913441 Prl prolactin gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:3403 D RGD:9068941 20240201 RGD mRNA, protein:increased expression:pituitary gland, blood plasma (rat) PMID:28710248|REF_RGD_ID:401960105 8913441 Prl prolactin gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:3403 D RGD:9068941 20240201 RGD mRNA,protein:increased expression:pituitary gland, blood plasma (rat) PMID:26509893|REF_RGD_ID:11344152 8913441 Prl prolactin gene DOID:0050741 alcohol dependence treatment ISO RGD:736187 D RGD:9068941 20240125 RGD PMID:11418230|REF_RGD_ID:401959332 8913441 Prl prolactin gene DOID:0060001 withdrawal disorder ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9037573 8913441 Prl prolactin gene DOID:0060001 withdrawal disorder treatment ISO RGD:736187 D RGD:9068941 20240125 RGD associated with opiate dependence PMID:6932063|REF_RGD_ID:401959329 8913441 Prl prolactin gene DOID:0060043 sexual health disorder ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829128|PMID:9334596 8913441 Prl prolactin gene DOID:0080855 Parkinsonism ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:240179 8913441 Prl prolactin gene DOID:10762 portal hypertension ISO RGD:3403 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17119344|REF_RGD_ID:1642556 8913441 Prl prolactin gene DOID:10937 impulse control disorder ISO RGD:736187 D RGD:9068941 20240224 RGD associated with substance abuse;protein:increased expression:blood plasma (human) PMID:2720017|REF_RGD_ID:401976444 8913441 Prl prolactin gene DOID:11132 prostatic hypertrophy ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2208075 8913441 Prl prolactin gene DOID:12698 gynecomastia ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7878608|PMID:9334596 8913441 Prl prolactin gene DOID:12700 hyperprolactinemia ISO RGD:3403 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17303669|REF_RGD_ID:1642575 8913441 Prl prolactin gene DOID:12700 hyperprolactinemia ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303669|PMID:2880862|PMID:2948424|PMID:4001434 8913441 Prl prolactin gene DOID:12849 autistic disorder ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18207134 8913441 Prl prolactin gene DOID:13938 amenorrhea ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6777091 8913441 Prl prolactin gene DOID:1591 renovascular hypertension ISO RGD:3403 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17316702|REF_RGD_ID:1642574 8913441 Prl prolactin gene DOID:1596 depressive disorder ameliorates ISO RGD:736187 D RGD:9068941 20240201 RGD associated with withdrawal disorder and alcohol dependence PMID:3757769|REF_RGD_ID:401959379 8913441 Prl prolactin gene DOID:1875 impotence ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829128|PMID:387166|PMID:4001434|PMID:7878608|PMID:8845563 8913441 Prl prolactin gene DOID:1876 sexual dysfunction ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10084644|PMID:15677431 8913441 Prl prolactin gene DOID:1924 hypogonadism ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829128 8913441 Prl prolactin gene DOID:2355 anemia ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10340396 8913441 Prl prolactin gene DOID:2696 Leydig cell tumor ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:4092719 8913441 Prl prolactin gene DOID:289 endometriosis ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11925390 8913441 Prl prolactin gene DOID:2945 severe acute respiratory syndrome ISO RGD:736187 D RGD:9068941 20200609 RGD protein:increased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 8913441 Prl prolactin gene DOID:299 adenocarcinoma ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6280079 8913441 Prl prolactin gene DOID:3407 carotid artery disease susceptibility ISO RGD:736187 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17626900|REF_RGD_ID:1642555 8913441 Prl prolactin gene DOID:5394 prolactinoma ISO RGD:3403 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland PMID:17260475|REF_RGD_ID:1642576 8913441 Prl prolactin gene DOID:5394 prolactinoma ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1407345|PMID:3776530|PMID:718334|PMID:9617019 8913441 Prl prolactin gene DOID:5394 prolactinoma sexual_dimorphism ISO RGD:736187 D RGD:9068941 20240229 RGD protein:increased expression:blood serum (human) PMID:12124824|PMID:16029648|REF_RGD_ID:401960111|REF_RGD_ID:401976454 8913441 Prl prolactin gene DOID:591 phobic disorder ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2554359 8913441 Prl prolactin gene DOID:6000 congestive heart failure ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18926768 8913441 Prl prolactin gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2042694 8913441 Prl prolactin gene DOID:630 genetic disease ISO RGD:736187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913441 Prl prolactin gene DOID:657 adenoma ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12058109|PMID:2274009 8913441 Prl prolactin gene DOID:679 basal ganglia disease ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7214106 8913441 Prl prolactin gene DOID:684 hepatocellular carcinoma onset ISO RGD:736187 D RGD:9068941 20210528 RGD protein:increased expression:serum (human) PMID:22392353|REF_RGD_ID:125097525 8913441 Prl prolactin gene DOID:809 cocaine abuse treatment ISO RGD:736187 D RGD:9068941 20240229 RGD PMID:17391744|REF_RGD_ID:401960113 8913441 Prl prolactin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:6280079 8913441 Prl prolactin gene DOID:9000972 Fever ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8913441 Prl prolactin gene DOID:9001791 Puerperal Disorders ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18926768 8913441 Prl prolactin gene DOID:9002090 Galactorrhea ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083845 8913441 Prl prolactin gene DOID:9002170 Experimental Neoplasms treatment ISO RGD:3403 D RGD:9068941 20220519 RGD PMID:26983879|REF_RGD_ID:152177690 8913441 Prl prolactin gene DOID:9002234 Pituitary Neoplasms ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:2274009|PMID:3498743|PMID:6156259 8913441 Prl prolactin gene DOID:9002735 alcohol withdrawal syndrome treatment ISO RGD:736187 D RGD:9068941 20240229 RGD PMID:3816539|REF_RGD_ID:401960110 8913441 Prl prolactin gene DOID:9003002 Fetal Resorption ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:3816235 8913441 Prl prolactin gene DOID:9003805 Catalepsy ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7197982 8913441 Prl prolactin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8913441 Prl prolactin gene DOID:9005600 Infarction ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:718334 8913441 Prl prolactin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15064918 8913441 Prl prolactin gene DOID:9006024 Hypotension ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720|PMID:71628 8913441 Prl prolactin gene DOID:9006646 Metabolic Syndrome ISO RGD:736187 D RGD:9068941 20200609 RGD PMID:16303834|REF_RGD_ID:1642558 8913441 Prl prolactin gene DOID:9007001 Bradycardia ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8913441 Prl prolactin gene DOID:9007456 Female Infertility ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19531635 8913441 Prl prolactin gene DOID:9007692 Insulin Resistance ISO RGD:736187 D RGD:9068941 20200609 RGD associated with Hyperprolactinemia PMID:3888755|REF_RGD_ID:1642560 8913441 Prl prolactin gene DOID:9008023 Memory Disorders ISO RGD:736187 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36100143 8913441 Prl prolactin gene DOID:9008297 Motor Disorders ISO RGD:736187 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36100143 8913441 Prl prolactin gene DOID:9008614 Cardiovascular Pregnancy Complications ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18926768 8913441 Prl prolactin gene DOID:9074 systemic lupus erythematosus ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14870917 8913441 Prl prolactin gene DOID:9406 hypopituitarism ISO RGD:736187 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1304515 8913441 Prl prolactin gene DOID:9970 obesity ISO RGD:736187 D RGD:9068941 20200609 RGD PMID:8388614|REF_RGD_ID:1642559 8913441 Prl prolactin gene DOID:9975 cocaine dependence ISO RGD:736187 D RGD:9068941 20240201 RGD protein:increased expression:blood plasma (human) PMID:2243892|REF_RGD_ID:401960099 8913441 Prl prolactin gene DOID:9975 cocaine dependence severity ISO RGD:736187 D RGD:9068941 20240125 RGD protein:decreased expression:blood serum (human) PMID:16915581|REF_RGD_ID:401959377 8913441 Prl prolactin gene DOID:9975 cocaine dependence severity ISO RGD:736187 D RGD:9068941 20240125 RGD protein:increased expression:blood serum (human) PMID:15064918|REF_RGD_ID:401959381 8913441 Prl prolactin gene DOID:9993 hypoglycemia ISO RGD:736187 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16617309|REF_RGD_ID:1642557 8913450 Gpd1 glycerol-3-phosphate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:733156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8913450 Gpd1 glycerol-3-phosphate dehydrogenase 1 gene DOID:9001603 Hypertriglyceridemia, Transient Infantile ISO RGD:733156 D RGD:7240710 20180130 OMIM 8913450 Gpd1 glycerol-3-phosphate dehydrogenase 1 gene DOID:9001603 Hypertriglyceridemia, Transient Infantile ISO RGD:733156 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GPD1-related condition | ClinVar Annotator: match by term: Hypertriglyceridemia, transient infantile PMID:22226083|PMID:24549054|PMID:25741868|PMID:28492532|PMID:32591995|PMID:32685347 8913450 Gpd1 glycerol-3-phosphate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8913466 Manbal mannosidase beta like gene DOID:2234 focal epilepsy ISO RGD:1353788 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8913466 Manbal mannosidase beta like gene DOID:630 genetic disease ISO RGD:1353788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913466 Manbal mannosidase beta like gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1353788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 8913481 Pcbp3 poly(rC) binding protein 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1316622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8913481 Pcbp3 poly(rC) binding protein 3 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8913481 Pcbp3 poly(rC) binding protein 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8913481 Pcbp3 poly(rC) binding protein 3 gene DOID:12849 autistic disorder ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8913481 Pcbp3 poly(rC) binding protein 3 gene DOID:630 genetic disease ISO RGD:1316622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913481 Pcbp3 poly(rC) binding protein 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8913481 Pcbp3 poly(rC) binding protein 3 gene DOID:9263 homocystinuria ISO RGD:1316622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8913481 Pcbp3 poly(rC) binding protein 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316622 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8913500 Sema4d semaphorin 4D gene DOID:630 genetic disease ISO RGD:1321523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913532 Rbm46 RNA binding motif protein 46 gene DOID:630 genetic disease ISO RGD:1602830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913573 Recql RecQ like helicase gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1322333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 8913573 Recql RecQ like helicase gene DOID:1324 lung cancer ISO RGD:1322333 D RGD:9068941 20200609 RGD PMID:18422747|REF_RGD_ID:2317370 8913573 Recql RecQ like helicase gene DOID:162 cancer ISO RGD:1322333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cancer 8913573 Recql RecQ like helicase gene DOID:1793 pancreatic cancer ISO RGD:1322333 D RGD:9068941 20200609 RGD PMID:18422747|REF_RGD_ID:2317370 8913573 Recql RecQ like helicase gene DOID:1793 pancreatic cancer ISO RGD:1322333 D RGD:9068941 20200609 RGD DNA:SNP:3'utr:rs13035 (human) PMID:16540687|REF_RGD_ID:2317365 8913573 Recql RecQ like helicase gene DOID:1793 pancreatic cancer ISO RGD:1322333 D RGD:9068941 20200609 RGD DNA:SNPs:introns PMID:19768149|REF_RGD_ID:2317369 8913573 Recql RecQ like helicase gene DOID:1826 epilepsy ISO RGD:1322333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:25915596|PMID:26467025|PMID:28492532|PMID:32546565 8913573 Recql RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1322333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:32546565|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982 8913573 Recql RecQ like helicase gene DOID:630 genetic disease ISO RGD:1322333 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8913573 Recql RecQ like helicase gene DOID:684 hepatocellular carcinoma ISO RGD:1322333 D RGD:9068941 20200609 RGD PMID:18422747|REF_RGD_ID:2317370 8913573 Recql RecQ like helicase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1322333 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18422747|REF_RGD_ID:2317370 8913573 Recql RecQ like helicase gene DOID:687 hepatoblastoma ISO RGD:1322333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 8913573 Recql RecQ like helicase gene DOID:9001941 RECON PROGEROID SYNDROME ISO RGD:1322333 D RGD:7240710 20230726 OMIM 8913573 Recql RecQ like helicase gene DOID:9001941 RECON PROGEROID SYNDROME ISO RGD:1322333 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar Annotator: match by term: RECQL-related condition PMID:17576681|PMID:25741868|PMID:25915596|PMID:26455304|PMID:26467025|PMID:28492532|PMID:28591191|PMID:29625052|PMID:30613976|PMID:31604778|PMID:32546565|PMID:33471991|PMID:35025765|PMID:35264596|PMID:36451132|PMID:9536098 8913573 Recql RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19768149|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:29341116|PMID:29351780|PMID:30224651|PMID:30613976|PMID:32566746|PMID:9536098 8913573 Recql RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:19768149|PMID:23852950|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:27832498|PMID:28492532|PMID:28591191|PMID:28724667|PMID:29341116|PMID:29351780|PMID:29555771|PMID:29625052|PMID:30224651|PMID:30267214|PMID:30610487|PMID:30613976|PMID:31173646|PMID:31312277|PMID:31444271|PMID:31469826|PMID:31604778|PMID:31659152|PMID:32029870|PMID:32338768|PMID:32471518|PMID:32517021|PMID:32546565|PMID:32566746|PMID:33342430|PMID:33471991|PMID:33563768|PMID:33649982|PMID:9536098 8913573 Recql RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322333 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:15096578|PMID:16199547|PMID:17576681|PMID:19768149|PMID:23852950|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:27832498|PMID:28492532|PMID:28591191|PMID:28724667|PMID:29341116|PMID:29351780|PMID:29555771|PMID:29625052|PMID:30224651|PMID:30267214|PMID:30610487|PMID:30613976|PMID:31173646|PMID:31312277|PMID:31444271|PMID:31469826|PMID:31604778|PMID:31659152|PMID:32029870|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32517021|PMID:32546565|PMID:32566746|PMID:32957588|PMID:33342430|PMID:33471991|PMID:33563768|PMID:33649982|PMID:35264596|PMID:36451132|PMID:9536098 8913573 Recql RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322333 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:15096578|PMID:16199547|PMID:17576681|PMID:19768149|PMID:23852950|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:27832498|PMID:28492532|PMID:28591191|PMID:28724667|PMID:29341116|PMID:29351780|PMID:29555771|PMID:29625052|PMID:30224651|PMID:30267214|PMID:30610487|PMID:30613976|PMID:31173646|PMID:31312277|PMID:31444271|PMID:31469826|PMID:31604778|PMID:31659152|PMID:32029870|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32517021|PMID:32546565|PMID:32566746|PMID:32957588|PMID:33342430|PMID:33471991|PMID:33563768|PMID:33649982|PMID:33858029|PMID:35264596|PMID:36451132|PMID:9536098 8913573 Recql RecQ like helicase gene DOID:9007661 Dwarfism ISO RGD:1322333 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:35025765 8913573 Recql RecQ like helicase gene DOID:9008939 Breast Neoplasms ISO RGD:1322333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25915596 8913573 Recql RecQ like helicase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0050451 Brugada syndrome ISO RGD:731904 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:19120683|PMID:20558321|PMID:21215473|PMID:21836131|PMID:22056721|PMID:22365152|PMID:22562657|PMID:22840528|PMID:23465283|PMID:23632791|PMID:24176758|PMID:24700710|PMID:25741868|PMID:25998140|PMID:27711072|PMID:28492532|PMID:28750076|PMID:30847666|PMID:32215968 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0060319 cardiac arrest ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:28492532 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type ISO RGD:731904 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:24176758|PMID:24700710|PMID:25741868|PMID:28492532|PMID:32215968 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0080855 Parkinsonism ISO RGD:2960 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:striatum, hippocampus (rat) PMID:15857625|REF_RGD_ID:1598645 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:25741868 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:0111151 Prinzmetal angina ISO RGD:10835 D RGD:9068941 20200609 RGD PMID:11984590|REF_RGD_ID:1581700 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:10763 hypertension ISO RGD:2960 D RGD:9068941 20200609 RGD PMID:16051697|REF_RGD_ID:1581698 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:11446 sciatic neuropathy ISO RGD:2960 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21907492|REF_RGD_ID:12791994 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19120683|PMID:20558321|PMID:22056721|PMID:22365152|PMID:22562657|PMID:22840528|PMID:23632791|PMID:24700710|PMID:25741868|PMID:28492532 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:2843 long QT syndrome ISO RGD:731904 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:25998140|PMID:28492532|PMID:28750076 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:3393 coronary artery disease ISO RGD:10835 D RGD:9068941 20220825 MouseDO OMIM:300464 | OMIM:607339 | OMIM:608316 | OMIM:608318 | OMIM:608320 | OMIM:608901 | OMIM:610938 | OMIM:610947 | OMIM:611139 | OMIM:612030 | OMIM:614293 | OMIM:614466 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:630 genetic disease ISO RGD:731904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19120683 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:731904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19120683 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9000528 Coronary Disease no_association ISO RGD:731904 D RGD:9068941 20200609 RGD PMID:12964027|REF_RGD_ID:1581699 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731904 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:19120683|PMID:20558321|PMID:21215473|PMID:21836131|PMID:22056721|PMID:22365152|PMID:22562657|PMID:22840528|PMID:23465283|PMID:23632791|PMID:24176758|PMID:24700710|PMID:25741868|PMID:25998140|PMID:27711072|PMID:28492532|PMID:28750076|PMID:30847666|PMID:32215968 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9004009 Reperfusion Injury ISO RGD:2960 D RGD:9068941 20200609 RGD PMID:10708603|REF_RGD_ID:1581697 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007 sudden infant death syndrome ISO RGD:731904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:28492532 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007102 Myocardial Ischemia ISO RGD:2960 D RGD:9068941 20200609 RGD PMID:26591689|PMID:9399952|REF_RGD_ID:12790977|REF_RGD_ID:1598652 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007102 Myocardial Ischemia ISO RGD:731904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007820 Sudden Death ISO RGD:731904 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 8913596 Kcnj8 potassium inwardly rectifying channel subfamily J member 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2960 D RGD:9068941 20200609 RGD PMID:12234964|REF_RGD_ID:729109 8913623 Aplp2 amyloid beta precursor like protein 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:731852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8913623 Aplp2 amyloid beta precursor like protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:2128 D RGD:9068941 20200609 RGD PMID:8086458|REF_RGD_ID:734582 8913623 Aplp2 amyloid beta precursor like protein 2 gene DOID:1289 neurodegenerative disease ISO RGD:2128 D RGD:9068941 20200609 RGD protein:increased expression:striatum PMID:12372026|REF_RGD_ID:1358285 8913623 Aplp2 amyloid beta precursor like protein 2 gene DOID:5419 schizophrenia ISO RGD:731852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8913623 Aplp2 amyloid beta precursor like protein 2 gene DOID:630 genetic disease ISO RGD:731852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913623 Aplp2 amyloid beta precursor like protein 2 gene DOID:9002955 Nerve Degeneration ISO RGD:731852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11784781 8913623 Aplp2 amyloid beta precursor like protein 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8913623 Aplp2 amyloid beta precursor like protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8913623 Aplp2 amyloid beta precursor like protein 2 gene DOID:9007661 Dwarfism ISO RGD:731852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8913666 Thap11 THAP domain containing 11 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1321070 D RGD:9068941 20220825 MouseDO OMIM:277400 8913666 Thap11 THAP domain containing 11 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8913666 Thap11 THAP domain containing 11 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1321069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:25741868|PMID:28449119 8913666 Thap11 THAP domain containing 11 gene DOID:630 genetic disease ISO RGD:1321069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8913666 Thap11 THAP domain containing 11 gene DOID:655 inherited metabolic disorder ISO RGD:1321069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28449119 8913671 Myf5 myogenic factor 5 gene DOID:0060249 scoliosis ISO RGD:1318025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:10844060|PMID:29887215 8913671 Myf5 myogenic factor 5 gene DOID:630 genetic disease ISO RGD:1318025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913671 Myf5 myogenic factor 5 gene DOID:9003625 OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES ISO RGD:1318025 D RGD:7240710 20210414 OMIM 8913671 Myf5 myogenic factor 5 gene DOID:9003625 OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES ISO RGD:1318025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ophthalmoplegia, external, with rib and vertebral anomalies PMID:10844060|PMID:25741868|PMID:29887215 8913683 Phf6 PHD finger protein 6 gene DOID:0050681 Borjeson-Forssman-Lehmann syndrome ISO RGD:1354174 D RGD:7240710 20180130 OMIM 8913683 Phf6 PHD finger protein 6 gene DOID:0050681 Borjeson-Forssman-Lehmann syndrome ISO RGD:1354174 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders PMID:12415272|PMID:13871358|PMID:15241480|PMID:15466013|PMID:15994862|PMID:18414213|PMID:23906836|PMID:24092917|PMID:24728327|PMID:25099957|PMID:25741868|PMID:25741869|PMID:26648834|PMID:27633282|PMID:27698851|PMID:28492532|PMID:28539120|PMID:28554332|PMID:30630810|PMID:35662002 8913683 Phf6 PHD finger protein 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8913683 Phf6 PHD finger protein 6 gene DOID:0080199 colorectal carcinoma ISO RGD:1354174 D RGD:9068941 20220929 RGD mRNA:increased expression:colorectal mucosa (human) PMID:28675510|REF_RGD_ID:150524297 8913683 Phf6 PHD finger protein 6 gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1354174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:12415272|PMID:15994862|PMID:25741868|PMID:25741869|PMID:28492532 8913683 Phf6 PHD finger protein 6 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 8913683 Phf6 PHD finger protein 6 gene DOID:1059 intellectual disability ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8913683 Phf6 PHD finger protein 6 gene DOID:12849 autistic disorder ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8913683 Phf6 PHD finger protein 6 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1354174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228800 8913683 Phf6 PHD finger protein 6 gene DOID:6000 congestive heart failure disease_progression ISO RGD:1354174 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 8913683 Phf6 PHD finger protein 6 gene DOID:630 genetic disease ISO RGD:1354174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12415272|PMID:18414213|PMID:24092917|PMID:25099957|PMID:25741868|PMID:26648834|PMID:28492532|PMID:28539120|PMID:30630810 8913683 Phf6 PHD finger protein 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1354174 D RGD:9068941 20220929 RGD mRNA:increased expression:liver (human) PMID:31329335|REF_RGD_ID:155260288 8913683 Phf6 PHD finger protein 6 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1354174 D RGD:9068941 20220929 RGD mRNA:increased expression:liver (human) PMID:30888215|REF_RGD_ID:155260308 8913683 Phf6 PHD finger protein 6 gene DOID:769 neuroblastoma ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 8913683 Phf6 PHD finger protein 6 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 8913683 Phf6 PHD finger protein 6 gene DOID:9004507 Hirsutism ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism 8913683 Phf6 PHD finger protein 6 gene DOID:9008086 Developmental Disabilities ISO RGD:1354174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8913683 Phf6 PHD finger protein 6 gene DOID:9008582 Developmental Disease ISO RGD:1354174 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8913683 Phf6 PHD finger protein 6 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1354174 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 8913683 Phf6 PHD finger protein 6 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1354174 D RGD:9068941 20220929 RGD DNA:mutations:multiple (human) PMID:31186809|REF_RGD_ID:155260286 8913707 Ezhip EZH inhibitory protein gene DOID:12849 autistic disorder ISO RGD:1603340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8913725 Krt35 keratin 35 gene DOID:630 genetic disease ISO RGD:1354440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913736 Mdm1 Mdm1 nuclear protein gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1621610 D RGD:9068941 20200609 RGD DNA, mRNA:nonsense mutation, decreased expression:retina PMID:18805803|REF_RGD_ID:10412062 8913736 Mdm1 Mdm1 nuclear protein gene DOID:630 genetic disease ISO RGD:1352515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913736 Mdm1 Mdm1 nuclear protein gene DOID:8466 retinal degeneration ISO RGD:1621610 D RGD:9068941 20240314 MouseDO 8913736 Mdm1 Mdm1 nuclear protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352515 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8913767 Sh3d21 SH3 domain containing 21 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8913767 Sh3d21 SH3 domain containing 21 gene DOID:630 genetic disease ISO RGD:1605948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913787 Phf14 PHD finger protein 14 gene DOID:630 genetic disease ISO RGD:1349780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913825 Cul4b cullin 4B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8913825 Cul4b cullin 4B gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1342683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pettigrew syndrome PMID:25741868 8913825 Cul4b cullin 4B gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1342683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8913825 Cul4b cullin 4B gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1342683 D RGD:7240710 20220427 OMIM 8913825 Cul4b cullin 4B gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1342683 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-Related Disorder | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked PMID:10978355|PMID:17236139|PMID:17273978|PMID:17576681|PMID:18414213|PMID:25385192|PMID:25741868|PMID:26467025|PMID:28330790|PMID:28492532|PMID:28817236|PMID:8135271|PMID:9536098 8913825 Cul4b cullin 4B gene DOID:1059 intellectual disability ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities PMID:17236139|PMID:17273978|PMID:25741868|PMID:28492532|PMID:8135271 8913825 Cul4b cullin 4B gene DOID:12849 autistic disorder ISO RGD:1342683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8913825 Cul4b cullin 4B gene DOID:1826 epilepsy ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:17236139|PMID:17273978|PMID:25741868|PMID:8135271 8913825 Cul4b cullin 4B gene DOID:630 genetic disease ISO RGD:1342683 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10978355|PMID:17236139|PMID:17273978|PMID:19818632|PMID:20002452|PMID:20655035|PMID:21554755|PMID:21816345|PMID:24898194|PMID:25385192|PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532 8913825 Cul4b cullin 4B gene DOID:9007661 Dwarfism ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short stature PMID:17236139|PMID:17273978|PMID:25741868|PMID:8135271 8913825 Cul4b cullin 4B gene DOID:9008086 Developmental Disabilities ISO RGD:1342683 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17236139|PMID:17273978|PMID:25741868|PMID:8135271 8913859 Magohb mago homolog B, exon junction complex subunit gene DOID:5119 ovarian cyst ISO RGD:1602707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8913859 Magohb mago homolog B, exon junction complex subunit gene DOID:630 genetic disease ISO RGD:1602707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913876 CUNH5orf47 chromosome unknown C5orf47 homolog gene DOID:630 genetic disease ISO RGD:2298818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913888 Nol4l nucleolar protein 4 like gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1348785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 8913888 Nol4l nucleolar protein 4 like gene DOID:630 genetic disease ISO RGD:1348785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913903 B4galt3 beta-1,4-galactosyltransferase 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1354334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8913903 B4galt3 beta-1,4-galactosyltransferase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1354334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8913903 B4galt3 beta-1,4-galactosyltransferase 3 gene DOID:4346 variegate porphyria ISO RGD:1354334 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Variegate porphyria PMID:25741868 8913903 B4galt3 beta-1,4-galactosyltransferase 3 gene DOID:630 genetic disease ISO RGD:1354334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913903 B4galt3 beta-1,4-galactosyltransferase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8913937 Malt1 MALT1 paracaspase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 8913937 Malt1 MALT1 paracaspase gene DOID:0060058 lymphoma ISO RGD:1319401 D RGD:9068941 20200609 RGD PMID:10523859|REF_RGD_ID:1599913 8913937 Malt1 MALT1 paracaspase gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1319401 D RGD:9068941 20200609 RGD PMID:12560219|REF_RGD_ID:1599912 8913937 Malt1 MALT1 paracaspase gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1319401 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8913937 Malt1 MALT1 paracaspase gene DOID:0111988 immunodeficiency 12 ISO RGD:1319401 D RGD:7240710 20180130 OMIM 8913937 Malt1 MALT1 paracaspase gene DOID:0111988 immunodeficiency 12 ISO RGD:1319401 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency | ClinVar Annotator: match by term: Immunodeficiency 12 PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23727036|PMID:24332264|PMID:25627829|PMID:25741868|PMID:27068814|PMID:28492532|PMID:35079916|PMID:9536098 8913937 Malt1 MALT1 paracaspase gene DOID:627 severe combined immunodeficiency ISO RGD:1319401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 8913937 Malt1 MALT1 paracaspase gene DOID:630 genetic disease ISO RGD:1319401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8913958 Fam210a family with sequence similarity 210 member A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8913958 Fam210a family with sequence similarity 210 member A gene DOID:1059 intellectual disability ISO RGD:1352066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8913958 Fam210a family with sequence similarity 210 member A gene DOID:630 genetic disease ISO RGD:1352066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913958 Fam210a family with sequence similarity 210 member A gene DOID:9002589 Bone Fractures ISO RGD:1352066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 8913972 Lypla1 lysophospholipase 1 gene DOID:630 genetic disease ISO RGD:735384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8913986 Ddx27 DEAD-box helicase 27 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1313779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 8913986 Ddx27 DEAD-box helicase 27 gene DOID:630 genetic disease ISO RGD:1313779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914022 Casp7 caspase 7 gene DOID:0060186 chemical colitis treatment ISO RGD:1553182 D RGD:9068941 20200609 RGD PMID:28740344|REF_RGD_ID:13782278 8914022 Casp7 caspase 7 gene DOID:1002 endometritis treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:26920733|REF_RGD_ID:13782281 8914022 Casp7 caspase 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1553182 D RGD:9068941 20200609 RGD PMID:23470535|REF_RGD_ID:8548491 8914022 Casp7 caspase 7 gene DOID:10652 Alzheimer's disease ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 8914022 Casp7 caspase 7 gene DOID:10652 Alzheimer's disease ISO RGD:1298347 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype PMID:26621834|REF_RGD_ID:11344490 8914022 Casp7 caspase 7 gene DOID:11446 sciatic neuropathy ISO RGD:620944 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:29659443|REF_RGD_ID:13782273 8914022 Casp7 caspase 7 gene DOID:12306 vitiligo ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 8914022 Casp7 caspase 7 gene DOID:1612 breast cancer disease_progression ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:23979166|REF_RGD_ID:13209143 8914022 Casp7 caspase 7 gene DOID:219 colon cancer disease_progression ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:23979166|REF_RGD_ID:13209143 8914022 Casp7 caspase 7 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:25872160|REF_RGD_ID:13782285 8914022 Casp7 caspase 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1298347 D RGD:9068941 20200609 RGD DNA:SNP: :rs2227310 (human) PMID:20661084|REF_RGD_ID:13434908 8914022 Casp7 caspase 7 gene DOID:5199 ureteral obstruction treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:29781318|REF_RGD_ID:13782341 8914022 Casp7 caspase 7 gene DOID:630 genetic disease ISO RGD:1298347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914022 Casp7 caspase 7 gene DOID:7148 rheumatoid arthritis ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:18785314|REF_RGD_ID:5684540 8914022 Casp7 caspase 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8914022 Casp7 caspase 7 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:20702827|REF_RGD_ID:5684535 8914022 Casp7 caspase 7 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:17646170|REF_RGD_ID:5684537 8914022 Casp7 caspase 7 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620944 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:28456626|REF_RGD_ID:13782304 8914022 Casp7 caspase 7 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:29621761|REF_RGD_ID:13782275 8914022 Casp7 caspase 7 gene DOID:9005172 Lung Neoplasms disease_progression ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:23979166|REF_RGD_ID:13209143 8914022 Casp7 caspase 7 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1298347 D RGD:9068941 20200609 RGD PMID:23979166|REF_RGD_ID:13209143 8914022 Casp7 caspase 7 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:23404339|PMID:26699876|REF_RGD_ID:10053670|REF_RGD_ID:13782283 8914022 Casp7 caspase 7 gene DOID:9005930 Endotoxemia ISO RGD:1553182 D RGD:9068941 20200609 RGD PMID:19168786|REF_RGD_ID:5684539 8914022 Casp7 caspase 7 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:17596683|REF_RGD_ID:5684536 8914022 Casp7 caspase 7 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 8914022 Casp7 caspase 7 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:29538428|REF_RGD_ID:13782276 8914022 Casp7 caspase 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16583263 8914022 Casp7 caspase 7 gene DOID:9119 acute myeloid leukemia ISO RGD:1298347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8914022 Casp7 caspase 7 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:23032698|REF_RGD_ID:10053698 8914022 Casp7 caspase 7 gene DOID:9408 acute myocardial infarction treatment ISO RGD:620944 D RGD:9068941 20200609 RGD PMID:26550220|REF_RGD_ID:13782284 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318848 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:16199547|PMID:22522442|PMID:25274842|PMID:25741868|PMID:28492532|PMID:32376792 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T PMID:24088041|PMID:26633545 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1 PMID:22522442|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1318848 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2 PMID:22522442|PMID:24627108|PMID:25274842|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 ISO RGD:1318848 D RGD:7240710 20180130 OMIM 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 PMID:16199547|PMID:17576681|PMID:22522442|PMID:23806086|PMID:24088041|PMID:24627108|PMID:25274842|PMID:25741868|PMID:26257172|PMID:26752306|PMID:27083531|PMID:27449489|PMID:28492532|PMID:32376792|PMID:9536098 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:22522442|PMID:24627108|PMID:25274842|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:1148 polydactyly ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:630 genetic disease ISO RGD:1318848 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22522442|PMID:25274842|PMID:25741868|PMID:26752306|PMID:27083531|PMID:28492532|PMID:32376792 8914046 Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8914094 Sirt5 sirtuin 5 gene DOID:630 genetic disease ISO RGD:1351920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914127 Ttll9 tubulin tyrosine ligase like 9 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1345675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8914127 Ttll9 tubulin tyrosine ligase like 9 gene DOID:11612 polycystic ovary syndrome ISO RGD:1345675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8914127 Ttll9 tubulin tyrosine ligase like 9 gene DOID:630 genetic disease ISO RGD:1345675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914127 Ttll9 tubulin tyrosine ligase like 9 gene DOID:9007188 Liver Neoplasms ISO RGD:1345675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8914153 Ibsp integrin binding sialoprotein gene DOID:630 genetic disease ISO RGD:735575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914153 Ibsp integrin binding sialoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:735575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8914153 Ibsp integrin binding sialoprotein gene DOID:9000965 Neoplasm Metastasis ISO RGD:735575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340|PMID:24980816 8914153 Ibsp integrin binding sialoprotein gene DOID:9006081 Osteolysis ISO RGD:735575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407340 8914153 Ibsp integrin binding sialoprotein gene DOID:9008939 Breast Neoplasms ISO RGD:735575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24980816 8914164 Trmt5 tRNA methyltransferase 5 gene DOID:0111490 combined oxidative phosphorylation deficiency 26 ISO RGD:1315256 D RGD:7240710 20180130 OMIM 8914164 Trmt5 tRNA methyltransferase 5 gene DOID:0111490 combined oxidative phosphorylation deficiency 26 ISO RGD:1315256 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 26 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY PMID:2544623|PMID:25741868|PMID:26189817|PMID:28492532|PMID:29021354|PMID:31038196|PMID:35342985 8914164 Trmt5 tRNA methyltransferase 5 gene DOID:630 genetic disease ISO RGD:1315256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8914164 Trmt5 tRNA methyltransferase 5 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:1315256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:25414181|PMID:28492532 8914181 Lman1 lectin, mannose binding 1 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:732234 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8914181 Lman1 lectin, mannose binding 1 gene DOID:0111988 immunodeficiency 12 ISO RGD:732234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8914181 Lman1 lectin, mannose binding 1 gene DOID:2211 factor XIII deficiency ISO RGD:732234 D RGD:9068941 20200609 RGD F5F8D, OMIM:227300 PMID:9546392|REF_RGD_ID:1600100 8914181 Lman1 lectin, mannose binding 1 gene DOID:2216 factor V deficiency ISO RGD:732234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor V deficiency PMID:25741868 8914181 Lman1 lectin, mannose binding 1 gene DOID:630 genetic disease ISO RGD:732234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914181 Lman1 lectin, mannose binding 1 gene DOID:9000717 Familial Multiple Coagulation Factor Deficiency I ISO RGD:732234 D RGD:7240710 20180130 OMIM 8914181 Lman1 lectin, mannose binding 1 gene DOID:9000717 Familial Multiple Coagulation Factor Deficiency I ISO RGD:732234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FMFD I PMID:18391077|PMID:25741868|PMID:31064749|PMID:9045860|PMID:9546392 8914210 Plekhd1 pleckstrin homology and coiled-coil domain containing D1 gene DOID:630 genetic disease ISO RGD:1347482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914210 Plekhd1 pleckstrin homology and coiled-coil domain containing D1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8914228 LOC102015496 neuferricin gene DOID:630 genetic disease ISO RGD:1606739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914239 Lpin2 lipin 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8914239 Lpin2 lipin 2 gene DOID:0110880 holoprosencephaly 4 ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 4 PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:22125506|PMID:28492532 8914239 Lpin2 lipin 2 gene DOID:0111193 facioscapulohumeral muscular dystrophy 2 ISO RGD:1312114 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:28492532 8914239 Lpin2 lipin 2 gene DOID:1059 intellectual disability ISO RGD:1312114 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8914239 Lpin2 lipin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8914239 Lpin2 lipin 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1312114 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10969284|PMID:15994876|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:24033266|PMID:25741868|PMID:26386126|PMID:27860302|PMID:2809904|PMID:28492532|PMID:33670882|PMID:9536098 8914239 Lpin2 lipin 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1312114 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10969284|PMID:15994876|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:24033266|PMID:25741868|PMID:26386126|PMID:26639818|PMID:27860302|PMID:2809904|PMID:28492532|PMID:33670882|PMID:9536098 8914239 Lpin2 lipin 2 gene DOID:630 genetic disease ISO RGD:1312114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8914239 Lpin2 lipin 2 gene DOID:8893 psoriasis ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis PMID:25741868|PMID:28492532 8914239 Lpin2 lipin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8914239 Lpin2 lipin 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1312114 D RGD:7240710 20180130 OMIM 8914239 Lpin2 lipin 2 gene DOID:9005523 Majeed Syndrome ISO RGD:1312114 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Majeed syndrome PMID:10969284|PMID:11795677|PMID:15994876|PMID:16199547|PMID:17330256|PMID:17576681|PMID:18409191|PMID:19717560|PMID:20032092|PMID:20301735|PMID:20645851|PMID:23087183|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26386126|PMID:27860302|PMID:2809904|PMID:28492532|PMID:28600779|PMID:29387759|PMID:31598604|PMID:31727123|PMID:33314777|PMID:33670882|PMID:9536098 8914286 Ddx17 DEAD-box helicase 17 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1312679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8914286 Ddx17 DEAD-box helicase 17 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1312679 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8914286 Ddx17 DEAD-box helicase 17 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1312679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8914286 Ddx17 DEAD-box helicase 17 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1312679 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8914309 Ints3 integrator complex subunit 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8914309 Ints3 integrator complex subunit 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8914309 Ints3 integrator complex subunit 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603299 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8914309 Ints3 integrator complex subunit 3 gene DOID:10283 prostate cancer ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8914309 Ints3 integrator complex subunit 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8914309 Ints3 integrator complex subunit 3 gene DOID:2661 myoepithelioma ISO RGD:1603299 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8914309 Ints3 integrator complex subunit 3 gene DOID:5812 MHC class II deficiency ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8914309 Ints3 integrator complex subunit 3 gene DOID:630 genetic disease ISO RGD:1603299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914309 Ints3 integrator complex subunit 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8914346 Popdc2 popeye domain containing 2 gene DOID:630 genetic disease ISO RGD:1352577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914360 Pkdcc protein kinase domain containing, cytoplasmic gene DOID:3883 Lynch syndrome ISO RGD:1605897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8914360 Pkdcc protein kinase domain containing, cytoplasmic gene DOID:630 genetic disease ISO RGD:1605897 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19097194|PMID:28492532|PMID:30478137|PMID:36896672 8914360 Pkdcc protein kinase domain containing, cytoplasmic gene DOID:9003152 RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES ISO RGD:1605897 D RGD:7240710 20200819 OMIM 8914360 Pkdcc protein kinase domain containing, cytoplasmic gene DOID:9003152 RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES ISO RGD:1605897 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhizomelic limb shortening with dysmorphic features PMID:16199547|PMID:19097194|PMID:25741868|PMID:28492532|PMID:30478137|PMID:36896672 8914360 Pkdcc protein kinase domain containing, cytoplasmic gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8914392 Traf3ip1 TRAF3 interacting protein 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532|PMID:29068549 8914392 Traf3ip1 TRAF3 interacting protein 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1319493 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:21945076|PMID:25741868|PMID:26487268|PMID:28492532|PMID:29068549 8914392 Traf3ip1 TRAF3 interacting protein 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1319493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8914392 Traf3ip1 TRAF3 interacting protein 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1319493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8914392 Traf3ip1 TRAF3 interacting protein 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1319493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8914392 Traf3ip1 TRAF3 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1319493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8914392 Traf3ip1 TRAF3 interacting protein 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1319493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868 8914392 Traf3ip1 TRAF3 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1319493 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8914392 Traf3ip1 TRAF3 interacting protein 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1319493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8914392 Traf3ip1 TRAF3 interacting protein 1 gene DOID:9001693 Senior-Loken Syndrome 9 ISO RGD:1319493 D RGD:7240710 20180130 OMIM 8914392 Traf3ip1 TRAF3 interacting protein 1 gene DOID:9001693 Senior-Loken Syndrome 9 ISO RGD:1319493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 9 PMID:21945076|PMID:25741868|PMID:26487268|PMID:28492532|PMID:29068549 8914419 Atp8b3 ATPase phospholipid transporting 8B3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1316924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8914419 Atp8b3 ATPase phospholipid transporting 8B3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8914419 Atp8b3 ATPase phospholipid transporting 8B3 gene DOID:630 genetic disease ISO RGD:1316924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914419 Atp8b3 ATPase phospholipid transporting 8B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8914486 Serpine1 serpin family E member 1 gene DOID:0050830 peripheral artery disease ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:9201602|REF_RGD_ID:8547710 8914486 Serpine1 serpin family E member 1 gene DOID:0050847 sleep apnea ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20508215|REF_RGD_ID:4144827 8914486 Serpine1 serpin family E member 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:18330639|REF_RGD_ID:4144837 8914486 Serpine1 serpin family E member 1 gene DOID:0050851 glomerulosclerosis ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:27129290|REF_RGD_ID:11073688 8914486 Serpine1 serpin family E member 1 gene DOID:0050851 glomerulosclerosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26999660|REF_RGD_ID:11073618 8914486 Serpine1 serpin family E member 1 gene DOID:0050855 renal fibrosis ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:26869361|REF_RGD_ID:11073686 8914486 Serpine1 serpin family E member 1 gene DOID:0050855 renal fibrosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:27018336|REF_RGD_ID:11073616 8914486 Serpine1 serpin family E member 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:24999729|REF_RGD_ID:13208508 8914486 Serpine1 serpin family E member 1 gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (rat) PMID:15878520|REF_RGD_ID:8547730 8914486 Serpine1 serpin family E member 1 gene DOID:0060181 ischemic colitis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:25656775|REF_RGD_ID:13208543 8914486 Serpine1 serpin family E member 1 gene DOID:0060496 respiratory allergy ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211530 8914486 Serpine1 serpin family E member 1 gene DOID:0060903 thrombosis ISO RGD:69014 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 8914486 Serpine1 serpin family E member 1 gene DOID:0060903 thrombosis no_association ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:deletion:promoter:g.-676_-674delG (human) PMID:12632020|REF_RGD_ID:7394765 8914486 Serpine1 serpin family E member 1 gene DOID:0060903 thrombosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Lupus Nephritis;;DNA:insertion/deletion: : PMID:17469143|REF_RGD_ID:7175506 8914486 Serpine1 serpin family E member 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:blood: PMID:25091195|REF_RGD_ID:13208545 8914486 Serpine1 serpin family E member 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:11055 D RGD:9068941 20220825 MouseDO 8914486 Serpine1 serpin family E member 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:17446839|REF_RGD_ID:8547894 8914486 Serpine1 serpin family E member 1 gene DOID:0080998 acute necrotizing pancreatitis disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:15257107|REF_RGD_ID:13208542 8914486 Serpine1 serpin family E member 1 gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Graves Disease;protein:increased expression:tears (human) PMID:22385289|REF_RGD_ID:8547756 8914486 Serpine1 serpin family E member 1 gene DOID:0081267 graft-versus-host disease Treatment ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:26414805|REF_RGD_ID:11343779 8914486 Serpine1 serpin family E member 1 gene DOID:0111046 platelet-type bleeding disorder 10 severity ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:18820218|REF_RGD_ID:13208509 8914486 Serpine1 serpin family E member 1 gene DOID:10247 pleurisy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): PMID:23052617|REF_RGD_ID:13207414 8914486 Serpine1 serpin family E member 1 gene DOID:10591 pre-eclampsia ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679377 8914486 Serpine1 serpin family E member 1 gene DOID:10591 pre-eclampsia ISO RGD:69014 D RGD:9068941 20200609 RGD mRNA:increased expression:blood: PMID:16952198|REF_RGD_ID:2292128 8914486 Serpine1 serpin family E member 1 gene DOID:10763 hypertension ISO RGD:3249 D RGD:9068941 20200903 RGD mRNA:increased expression:kidney (SHRSP/A3N rat) PMID:11907153|REF_RGD_ID:28912746 8914486 Serpine1 serpin family E member 1 gene DOID:10763 hypertension ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829|PMID:22352330 8914486 Serpine1 serpin family E member 1 gene DOID:10763 hypertension ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:8355419|REF_RGD_ID:8547753 8914486 Serpine1 serpin family E member 1 gene DOID:10763 hypertension treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:16645728|REF_RGD_ID:11081003 8914486 Serpine1 serpin family E member 1 gene DOID:11054 urinary bladder cancer ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:19010488|REF_RGD_ID:4144867 8914486 Serpine1 serpin family E member 1 gene DOID:11247 disseminated intravascular coagulation ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:blood (rat) PMID:23737601|REF_RGD_ID:10449432 8914486 Serpine1 serpin family E member 1 gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:15869603|REF_RGD_ID:11080963 8914486 Serpine1 serpin family E member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Pneumonia, aspiration; protein:increased expression:Bronchoalveolar Lavage Fluid PMID:16284739|REF_RGD_ID:4144039 8914486 Serpine1 serpin family E member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17667242|REF_RGD_ID:4144037 8914486 Serpine1 serpin family E member 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:25967608|REF_RGD_ID:11075075 8914486 Serpine1 serpin family E member 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19375763|REF_RGD_ID:13208505 8914486 Serpine1 serpin family E member 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Premature Birth;protein:increased expression:blood: PMID:25140773|REF_RGD_ID:13208551 8914486 Serpine1 serpin family E member 1 gene DOID:11695 portal vein thrombosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:25987440|REF_RGD_ID:14696749 8914486 Serpine1 serpin family E member 1 gene DOID:11713 diabetic angiopathy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion, haplotype:promoter:g.-676_-674delG (human) PMID:9844142|REF_RGD_ID:8547700 8914486 Serpine1 serpin family E member 1 gene DOID:1184 nephrotic syndrome ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17513194 8914486 Serpine1 serpin family E member 1 gene DOID:12361 Graves' disease ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:tears (human) PMID:22385289|REF_RGD_ID:8547756 8914486 Serpine1 serpin family E member 1 gene DOID:12361 Graves' disease treatment ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:11980614|REF_RGD_ID:8547709 8914486 Serpine1 serpin family E member 1 gene DOID:12849 autistic disorder ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19360663 8914486 Serpine1 serpin family E member 1 gene DOID:13025 retinopathy of prematurity ISO RGD:69014 D RGD:9068941 20200609 RGD human protein in a rat model PMID:14638747|REF_RGD_ID:8547810 8914486 Serpine1 serpin family E member 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491 8914486 Serpine1 serpin family E member 1 gene DOID:1312 focal segmental glomerulosclerosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:22303720|REF_RGD_ID:13208548 8914486 Serpine1 serpin family E member 1 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23304115|REF_RGD_ID:8699497 8914486 Serpine1 serpin family E member 1 gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) PMID:16416371|REF_RGD_ID:8699494 8914486 Serpine1 serpin family E member 1 gene DOID:13241 Behcet's disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 8914486 Serpine1 serpin family E member 1 gene DOID:13241 Behcet's disease ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:18341631|REF_RGD_ID:8547693 8914486 Serpine1 serpin family E member 1 gene DOID:13580 cholestasis ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 8914486 Serpine1 serpin family E member 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:18417194|REF_RGD_ID:13207412 8914486 Serpine1 serpin family E member 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19004443|REF_RGD_ID:13207334 8914486 Serpine1 serpin family E member 1 gene DOID:1389 polyneuropathy ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:9201602|REF_RGD_ID:8547710 8914486 Serpine1 serpin family E member 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:69014 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta: PMID:23814118|REF_RGD_ID:13208504 8914486 Serpine1 serpin family E member 1 gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:25987440|REF_RGD_ID:14696749 8914486 Serpine1 serpin family E member 1 gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Pneumonia; DNA:polymorphism:promoter:rs1799768 (human) PMID:20429897|REF_RGD_ID:4144828 8914486 Serpine1 serpin family E member 1 gene DOID:1577 limited scleroderma ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:15730388|REF_RGD_ID:13208597 8914486 Serpine1 serpin family E member 1 gene DOID:1612 breast cancer ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:breast, tumor (human) PMID:15448007|REF_RGD_ID:8547748 8914486 Serpine1 serpin family E member 1 gene DOID:1686 glaucoma ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:15710819|REF_RGD_ID:8547695 8914486 Serpine1 serpin family E member 1 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion:promoter:g.-676_-674delG (human) PMID:16244763|REF_RGD_ID:8547742 8914486 Serpine1 serpin family E member 1 gene DOID:1727 retinal vein occlusion susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:15213845|REF_RGD_ID:8547805 8914486 Serpine1 serpin family E member 1 gene DOID:1936 atherosclerosis ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 8914486 Serpine1 serpin family E member 1 gene DOID:2213 hemorrhagic disease ISO RGD:69014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8914486 Serpine1 serpin family E member 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26851971|REF_RGD_ID:11073692 8914486 Serpine1 serpin family E member 1 gene DOID:2316 brain ischemia treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:27108052|REF_RGD_ID:11073613 8914486 Serpine1 serpin family E member 1 gene DOID:2378 relapsing-remitting multiple sclerosis disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:10739162|REF_RGD_ID:13208510 8914486 Serpine1 serpin family E member 1 gene DOID:2841 asthma ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:plasma, lung PMID:18594148|REF_RGD_ID:4144836 8914486 Serpine1 serpin family E member 1 gene DOID:2841 asthma no_association ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:19604112|REF_RGD_ID:4144833 8914486 Serpine1 serpin family E member 1 gene DOID:2841 asthma severity ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19703828|REF_RGD_ID:4144831 8914486 Serpine1 serpin family E member 1 gene DOID:2841 asthma susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:19063817|REF_RGD_ID:4144832 8914486 Serpine1 serpin family E member 1 gene DOID:2921 glomerulonephritis treatment ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:12897205|REF_RGD_ID:13208810 8914486 Serpine1 serpin family E member 1 gene DOID:2987 familial mediterranean fever susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:22736074|REF_RGD_ID:13207415 8914486 Serpine1 serpin family E member 1 gene DOID:3070 high grade glioma ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:14977830|REF_RGD_ID:13208546 8914486 Serpine1 serpin family E member 1 gene DOID:3082 interstitial lung disease susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD Cryptogenic Organizing Pneumonia; DNA:polymorphism:promoter:rs1799768 (human) PMID:12765340|REF_RGD_ID:4144846 8914486 Serpine1 serpin family E member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:17651644|REF_RGD_ID:6484146 8914486 Serpine1 serpin family E member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:11929177|REF_RGD_ID:4144041 8914486 Serpine1 serpin family E member 1 gene DOID:3192 neurilemmoma ISO RGD:69014 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:schwann cell PMID:14963743|REF_RGD_ID:13208544 8914486 Serpine1 serpin family E member 1 gene DOID:3355 fibrosarcoma severity ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:11059781|REF_RGD_ID:8547752 8914486 Serpine1 serpin family E member 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:insertion:promoter: (human) PMID:9484978|REF_RGD_ID:1580190 8914486 Serpine1 serpin family E member 1 gene DOID:3490 Noonan syndrome ISO RGD:69014 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:20686427|REF_RGD_ID:13207331 8914486 Serpine1 serpin family E member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:14512838|REF_RGD_ID:1580876 8914486 Serpine1 serpin family E member 1 gene DOID:3526 cerebral infarction treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:25702149|REF_RGD_ID:11075081 8914486 Serpine1 serpin family E member 1 gene DOID:3627 aortic aneurysm treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:9697825|REF_RGD_ID:8547863 8914486 Serpine1 serpin family E member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:16224526|REF_RGD_ID:4144842 8914486 Serpine1 serpin family E member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:69014 D RGD:9068941 20200609 RGD Idiopathic Pulmonary Fibrosis PMID:20061390|REF_RGD_ID:4143513 8914486 Serpine1 serpin family E member 1 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:22659625|REF_RGD_ID:8547927 8914486 Serpine1 serpin family E member 1 gene DOID:3891 placental insufficiency ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26903689|REF_RGD_ID:11557202 8914486 Serpine1 serpin family E member 1 gene DOID:409 liver disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29684222 8914486 Serpine1 serpin family E member 1 gene DOID:418 systemic scleroderma ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:dermis,microvessel: PMID:26414805|REF_RGD_ID:11343779 8914486 Serpine1 serpin family E member 1 gene DOID:4448 macular degeneration ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17675241|REF_RGD_ID:8547755 8914486 Serpine1 serpin family E member 1 gene DOID:4481 allergic rhinitis ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa (mouse) PMID:21339035|REF_RGD_ID:8547809 8914486 Serpine1 serpin family E member 1 gene DOID:4483 rhinitis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:19063817|REF_RGD_ID:4144832 8914486 Serpine1 serpin family E member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8914486 Serpine1 serpin family E member 1 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:25987440|REF_RGD_ID:14696749 8914486 Serpine1 serpin family E member 1 gene DOID:5199 ureteral obstruction ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:11832778|REF_RGD_ID:8547912 8914486 Serpine1 serpin family E member 1 gene DOID:5199 ureteral obstruction ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 8914486 Serpine1 serpin family E member 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:12365557|REF_RGD_ID:8547941 8914486 Serpine1 serpin family E member 1 gene DOID:552 pneumonia ISO RGD:69014 D RGD:9068941 20200609 RGD Pneumonia, Ventilator-Associated; protein:increased expression:Bronchoalveolar Lavage Fluid PMID:20473240|REF_RGD_ID:4143511 8914486 Serpine1 serpin family E member 1 gene DOID:552 pneumonia disease_progression ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:19387177|REF_RGD_ID:4143525 8914486 Serpine1 serpin family E member 1 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa (human) PMID:15878520|REF_RGD_ID:8547730 8914486 Serpine1 serpin family E member 1 gene DOID:5844 myocardial infarction ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:16053971|REF_RGD_ID:8547882 8914486 Serpine1 serpin family E member 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion:promoter:g.-676_-674delG (human) PMID:12477941|REF_RGD_ID:1626626 8914486 Serpine1 serpin family E member 1 gene DOID:5845 anterolateral myocardial infarction ISO RGD:11055 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:heart: PMID:12615902|REF_RGD_ID:13208541 8914486 Serpine1 serpin family E member 1 gene DOID:5845 anterolateral myocardial infarction disease_progression ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:12615902|REF_RGD_ID:13208541 8914486 Serpine1 serpin family E member 1 gene DOID:6000 congestive heart failure ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22352330 8914486 Serpine1 serpin family E member 1 gene DOID:6039 uveal melanoma treatment ISO RGD:69014 D RGD:9068941 20200609 RGD human gene in mouse model PMID:9326241|REF_RGD_ID:8547806 8914486 Serpine1 serpin family E member 1 gene DOID:630 genetic disease ISO RGD:69014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914486 Serpine1 serpin family E member 1 gene DOID:6432 pulmonary hypertension ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:3'utr PMID:20300292|REF_RGD_ID:4143527 8914486 Serpine1 serpin family E member 1 gene DOID:6432 pulmonary hypertension ISO RGD:69014 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:18337154|REF_RGD_ID:4143529 8914486 Serpine1 serpin family E member 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:27115515|REF_RGD_ID:11073610 8914486 Serpine1 serpin family E member 1 gene DOID:74 hematopoietic system disease treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:20539915|REF_RGD_ID:11080965 8914486 Serpine1 serpin family E member 1 gene DOID:767 muscular atrophy ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:muscle PMID:19574431|REF_RGD_ID:4144861 8914486 Serpine1 serpin family E member 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:20554458|REF_RGD_ID:4144856 8914486 Serpine1 serpin family E member 1 gene DOID:783 end stage renal disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 8914486 Serpine1 serpin family E member 1 gene DOID:783 end stage renal disease treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26903149|REF_RGD_ID:11073683 8914486 Serpine1 serpin family E member 1 gene DOID:7998 hyperthyroidism ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:14512089|REF_RGD_ID:8547758 8914486 Serpine1 serpin family E member 1 gene DOID:8432 polycythemia ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Anoxia;mRNA:increased expression:heart right ventricle, heart left ventricle (rat) PMID:9405184|REF_RGD_ID:11080746 8914486 Serpine1 serpin family E member 1 gene DOID:850 lung disease ISO RGD:69014 D RGD:9068941 20200609 RGD Acute Lung Injury; protein:increased expression:plasma PMID:19855955|REF_RGD_ID:4143514 8914486 Serpine1 serpin family E member 1 gene DOID:850 lung disease ISO RGD:69014 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury; mRNA, protein:increased expression, increased activity:Bronchoalveolar Lavage Fluid, plasma PMID:20110652|REF_RGD_ID:4143512 8914486 Serpine1 serpin family E member 1 gene DOID:850 lung disease severity ISO RGD:69014 D RGD:9068941 20200609 RGD acute lung injury; associated with Pulmonary Edema; protein:increased expression:lung, plasma PMID:12730079|REF_RGD_ID:4144040 8914486 Serpine1 serpin family E member 1 gene DOID:863 nervous system disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 8914486 Serpine1 serpin family E member 1 gene DOID:874 bacterial pneumonia severity ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:17032919|REF_RGD_ID:4144840 8914486 Serpine1 serpin family E member 1 gene DOID:8947 diabetic retinopathy ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:9201602|REF_RGD_ID:8547710 8914486 Serpine1 serpin family E member 1 gene DOID:8947 diabetic retinopathy no_association ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) PMID:12660488|REF_RGD_ID:8547699 8914486 Serpine1 serpin family E member 1 gene DOID:8947 diabetic retinopathy no_association ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;repeat, snp:intron, 3' utr:g.7844(CA)1-6, ? (human) PMID:7974340|REF_RGD_ID:8547740 8914486 Serpine1 serpin family E member 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human) PMID:23281898|REF_RGD_ID:8547697 8914486 Serpine1 serpin family E member 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp, deletion:promoter:g.-844G>A, g.-676_-674delG (human) PMID:19419896|REF_RGD_ID:8547741 8914486 Serpine1 serpin family E member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8914486 Serpine1 serpin family E member 1 gene DOID:9000367 Multiple Trauma ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:26632604|REF_RGD_ID:11073720 8914486 Serpine1 serpin family E member 1 gene DOID:9000613 Hyaline Membrane Disease ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:8981909|REF_RGD_ID:4144850 8914486 Serpine1 serpin family E member 1 gene DOID:9000656 Penetrating Wounds ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal skin (rat) PMID:25794881|REF_RGD_ID:11075080 8914486 Serpine1 serpin family E member 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumococcal;protein:increased expression:bronchoalveolar lavage fluid (rat) PMID:18768578|REF_RGD_ID:11081010 8914486 Serpine1 serpin family E member 1 gene DOID:9000972 Fever susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): PMID:23052617|REF_RGD_ID:13207414 8914486 Serpine1 serpin family E member 1 gene DOID:9001542 Albuminuria ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:9201602|REF_RGD_ID:8547710 8914486 Serpine1 serpin family E member 1 gene DOID:9001642 Intestinal Polyps treatment ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:18258607|REF_RGD_ID:13208598 8914486 Serpine1 serpin family E member 1 gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:16221712|REF_RGD_ID:13208600 8914486 Serpine1 serpin family E member 1 gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:18192922|REF_RGD_ID:13208601 8914486 Serpine1 serpin family E member 1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:12353078|REF_RGD_ID:8547901 8914486 Serpine1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus, mesangial cell (rat) PMID:15322501|REF_RGD_ID:1580123 8914486 Serpine1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18682491 8914486 Serpine1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69014 D RGD:9068941 20200609 RGD associate with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) PMID:10809802|REF_RGD_ID:8547711 8914486 Serpine1 serpin family E member 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26712211|REF_RGD_ID:11073694 8914486 Serpine1 serpin family E member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Pre-Eclampsia;protein:increased expression:plasma,placenta: PMID:8018914|REF_RGD_ID:13208595 8914486 Serpine1 serpin family E member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16172807 8914486 Serpine1 serpin family E member 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid: PMID:25530106|REF_RGD_ID:13208550 8914486 Serpine1 serpin family E member 1 gene DOID:9002514 Neointima ISO RGD:69014 D RGD:9068941 20200609 RGD human protein in rat model PMID:19574558|REF_RGD_ID:8547913 8914486 Serpine1 serpin family E member 1 gene DOID:9002514 Neointima treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:18091579|REF_RGD_ID:8547879 8914486 Serpine1 serpin family E member 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:spinal cord, astrocyte: PMID:11733372|REF_RGD_ID:13208549 8914486 Serpine1 serpin family E member 1 gene DOID:9002906 Multiple Organ Failure treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:16977483|REF_RGD_ID:11081009 8914486 Serpine1 serpin family E member 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina (mouse) PMID:19443721|REF_RGD_ID:8547749 8914486 Serpine1 serpin family E member 1 gene DOID:9002909 Oxygen-Induced Retinopathy severity ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:19443721|REF_RGD_ID:8547749 8914486 Serpine1 serpin family E member 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:11133880|REF_RGD_ID:13208592 8914486 Serpine1 serpin family E member 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:heart left ventricle (rat) PMID:11961044|REF_RGD_ID:8547914 8914486 Serpine1 serpin family E member 1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:15604340|REF_RGD_ID:8547923 8914486 Serpine1 serpin family E member 1 gene DOID:9003204 Neovascularization, Pathologic ISO RGD:69014 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; protein:increased expression:lung PMID:17207889|REF_RGD_ID:4144038 8914486 Serpine1 serpin family E member 1 gene DOID:9003248 Central Serous Chorioretinopathy ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:10218712|REF_RGD_ID:8547738 8914486 Serpine1 serpin family E member 1 gene DOID:9003248 Central Serous Chorioretinopathy ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:24446892|REF_RGD_ID:8547804 8914486 Serpine1 serpin family E member 1 gene DOID:9003291 Aggressive Fibromatosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) PMID:17160433|REF_RGD_ID:13208596 8914486 Serpine1 serpin family E member 1 gene DOID:9003379 Radiation Nephropathy treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:8995730|REF_RGD_ID:12880012 8914486 Serpine1 serpin family E member 1 gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion:promoter:g.-676_-674delG (human) PMID:17549286|REF_RGD_ID:8547715 8914486 Serpine1 serpin family E member 1 gene DOID:9003646 Arterial Thrombosis ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:26857113|REF_RGD_ID:11073687 8914486 Serpine1 serpin family E member 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:69014 D RGD:9068941 20200609 RGD PMID:19587273|REF_RGD_ID:2316117 8914486 Serpine1 serpin family E member 1 gene DOID:9003758 Banti's Syndrome susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:18685811|REF_RGD_ID:10755472 8914486 Serpine1 serpin family E member 1 gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:promoter:g.-676_-674delG (human) PMID:22672326|REF_RGD_ID:8547731 8914486 Serpine1 serpin family E member 1 gene DOID:9003841 Acquired Protein C Deficiency ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Sepsis;protein:increased activity:lung (rat) PMID:18182560|REF_RGD_ID:11080962 8914486 Serpine1 serpin family E member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:9535178|REF_RGD_ID:8547875 8914486 Serpine1 serpin family E member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:femoral vein (rat) PMID:26535698|REF_RGD_ID:11060966 8914486 Serpine1 serpin family E member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:deletion:promoter:g.-676_-674delG (human) PMID:14653439|REF_RGD_ID:1580132 8914486 Serpine1 serpin family E member 1 gene DOID:9004484 Sepsis ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Pneumonia; protein:increased expression:plasma PMID:19753144|REF_RGD_ID:4144830 8914486 Serpine1 serpin family E member 1 gene DOID:9004484 Sepsis treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 8914486 Serpine1 serpin family E member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic;mRNA:increased expression:lung (rat) PMID:10745022|REF_RGD_ID:11080967 8914486 Serpine1 serpin family E member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:25934465|REF_RGD_ID:11075078 8914486 Serpine1 serpin family E member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Sepsis PMID:18182560|REF_RGD_ID:11080962 8914486 Serpine1 serpin family E member 1 gene DOID:9004702 Pregnancy Complications ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs1799768 (human) PMID:10909993|REF_RGD_ID:13208506 8914486 Serpine1 serpin family E member 1 gene DOID:9004771 Vascular Remodeling treatment ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:26856544|REF_RGD_ID:11073690 8914486 Serpine1 serpin family E member 1 gene DOID:9004874 Dermal Fibrosis treatment ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:26414805|REF_RGD_ID:11343779 8914486 Serpine1 serpin family E member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11055 D RGD:9068941 20200609 RGD protein:increased expression:heart (mouse) PMID:20630999|REF_RGD_ID:8547862 8914486 Serpine1 serpin family E member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21757225 8914486 Serpine1 serpin family E member 1 gene DOID:9005930 Endotoxemia ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:21396682|REF_RGD_ID:5147765 8914486 Serpine1 serpin family E member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:25396762|REF_RGD_ID:10449434 8914486 Serpine1 serpin family E member 1 gene DOID:9005941 Rhinosinusitis ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa (human) PMID:21711960|REF_RGD_ID:6483796 8914486 Serpine1 serpin family E member 1 gene DOID:9006014 Peritoneal Adhesions ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid (rat) PMID:26419644|REF_RGD_ID:11073723 8914486 Serpine1 serpin family E member 1 gene DOID:9006014 Peritoneal Adhesions treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26790972|REF_RGD_ID:11073682 8914486 Serpine1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental ISO RGD:11055 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (mouse) PMID:12766088|REF_RGD_ID:8547735 8914486 Serpine1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental ISO RGD:69014 D RGD:9068941 20200609 RGD human gene in mouse model PMID:11292663|REF_RGD_ID:8547737 8914486 Serpine1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental severity ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:12766088|REF_RGD_ID:8547735 8914486 Serpine1 serpin family E member 1 gene DOID:9006151 Choroidal Neovascularization, Experimental treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26610445|REF_RGD_ID:11073722 8914486 Serpine1 serpin family E member 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery (rat) PMID:25617690|REF_RGD_ID:11075082 8914486 Serpine1 serpin family E member 1 gene DOID:9006205 Animal Disease Models ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21051829 8914486 Serpine1 serpin family E member 1 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:11055 D RGD:9068941 20230601 RGD PMID:24920753|REF_RGD_ID:329845564 8914486 Serpine1 serpin family E member 1 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26084260|REF_RGD_ID:11073736 8914486 Serpine1 serpin family E member 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:11606484|REF_RGD_ID:11080966 8914486 Serpine1 serpin family E member 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25561792|REF_RGD_ID:11075083 8914486 Serpine1 serpin family E member 1 gene DOID:9007096 Stroke ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11450024|REF_RGD_ID:4144847 8914486 Serpine1 serpin family E member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21159647 8914486 Serpine1 serpin family E member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:69014 D RGD:9068941 20200609 RGD associated with precursor lymphoblastic lymphoma/leukemia;DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human) PMID:23183238|REF_RGD_ID:14696750 8914486 Serpine1 serpin family E member 1 gene DOID:9007692 Insulin Resistance ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:white adipose tissue (rat) PMID:19776253|REF_RGD_ID:8547949 8914486 Serpine1 serpin family E member 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26188590|REF_RGD_ID:11073726 8914486 Serpine1 serpin family E member 1 gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:11055 D RGD:9068941 20200609 RGD PMID:17983428|REF_RGD_ID:13208507 8914486 Serpine1 serpin family E member 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:3249 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:12717359|REF_RGD_ID:11081012 8914486 Serpine1 serpin family E member 1 gene DOID:9007783 Vascular Depression treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26286041|REF_RGD_ID:11073724 8914486 Serpine1 serpin family E member 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:26958805|REF_RGD_ID:11073621 8914486 Serpine1 serpin family E member 1 gene DOID:9008217 Hemorrhage ISO RGD:69014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868 8914486 Serpine1 serpin family E member 1 gene DOID:9008217 Hemorrhage treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:9263399|REF_RGD_ID:11080960 8914486 Serpine1 serpin family E member 1 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:69014 D RGD:7240710 20180130 OMIM 8914486 Serpine1 serpin family E member 1 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:69014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:12856128|PMID:15650551|PMID:17656673|PMID:20549826|PMID:21486382|PMID:21681106|PMID:25741868|PMID:28492532|PMID:28771291 8914486 Serpine1 serpin family E member 1 gene DOID:9008652 Postoperative Atrial Fibrillation ISO RGD:69014 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:17846288|REF_RGD_ID:8547720 8914486 Serpine1 serpin family E member 1 gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:69014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Gastrointestinal hemorrhage PMID:25741868 8914486 Serpine1 serpin family E member 1 gene DOID:9009023 Aortic Remodeling treatment ISO RGD:3249 D RGD:9068941 20200609 RGD associated with Hypertension PMID:26693246|REF_RGD_ID:11073698 8914486 Serpine1 serpin family E member 1 gene DOID:9120 amyloidosis susceptibility ISO RGD:69014 D RGD:9068941 20200609 RGD associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human): PMID:23052617|REF_RGD_ID:13207414 8914486 Serpine1 serpin family E member 1 gene DOID:9351 diabetes mellitus treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:10910004|REF_RGD_ID:2312393 8914486 Serpine1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3249 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19706694|REF_RGD_ID:2316116 8914486 Serpine1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69014 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:8236167|REF_RGD_ID:8547723 8914486 Serpine1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69014 D RGD:9068941 20200609 RGD DNA:polymorphism: PMID:16855181|REF_RGD_ID:1624959 8914486 Serpine1 serpin family E member 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3249 D RGD:9068941 20200609 RGD PMID:14614217|REF_RGD_ID:2312394 8914486 Serpine1 serpin family E member 1 gene DOID:9452 steatotic liver disease ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18641190|PMID:29684222 8914486 Serpine1 serpin family E member 1 gene DOID:9970 obesity ISO RGD:69014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23819014 8914499 Bend6 BEN domain containing 6 gene DOID:630 genetic disease ISO RGD:1321272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914525 Yju2b YJU2 splicing factor homolog B gene DOID:630 genetic disease ISO RGD:1604584 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914562 Sae1 SUMO1 activating enzyme subunit 1 gene DOID:630 genetic disease ISO RGD:1604646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914578 Phip pleckstrin homology domain interacting protein gene DOID:0050888 syndromic intellectual disability ISO RGD:1345138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:27900362|PMID:28708303 8914578 Phip pleckstrin homology domain interacting protein gene DOID:0060041 autism spectrum disorder ISO RGD:1345138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8914578 Phip pleckstrin homology domain interacting protein gene DOID:1059 intellectual disability ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020 8914578 Phip pleckstrin homology domain interacting protein gene DOID:12849 autistic disorder ISO RGD:1345138 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:25741868|PMID:28492532 8914578 Phip pleckstrin homology domain interacting protein gene DOID:12894 Sjogren's syndrome ISO RGD:1345138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 8914578 Phip pleckstrin homology domain interacting protein gene DOID:630 genetic disease ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27479843|PMID:28263302|PMID:28492532|PMID:29209020|PMID:33004838 8914578 Phip pleckstrin homology domain interacting protein gene DOID:9000949 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ISO RGD:1345138 D RGD:7240710 20190315 OMIM 8914578 Phip pleckstrin homology domain interacting protein gene DOID:9000949 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ISO RGD:1345138 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-Related Disorder | ClinVar Annotator: match by term: PHIP-related condition PMID:16199547|PMID:17576681|PMID:23033978|PMID:25741868|PMID:27479843|PMID:27900362|PMID:28263302|PMID:28492532|PMID:29209020|PMID:33004838|PMID:9536098 8914578 Phip pleckstrin homology domain interacting protein gene DOID:9002789 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE ISO RGD:1345138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE PMID:25741868|PMID:28492532 8914578 Phip pleckstrin homology domain interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345138 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8914578 Phip pleckstrin homology domain interacting protein gene DOID:9008582 Developmental Disease ISO RGD:1345138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8914578 Phip pleckstrin homology domain interacting protein gene DOID:9269 maple syrup urine disease ISO RGD:1345138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 8914620 Zbtb17 zinc finger and BTB domain containing 17 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347626 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8914620 Zbtb17 zinc finger and BTB domain containing 17 gene DOID:630 genetic disease ISO RGD:1347626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914651 Adss2 adenylosuccinate synthase 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1321450 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8914651 Adss2 adenylosuccinate synthase 2 gene DOID:1115 sarcoma ISO RGD:1310508 D RGD:9068941 20200609 RGD protein:increased activity:tumor (rat) PMID:2560335|REF_RGD_ID:5143928 8914651 Adss2 adenylosuccinate synthase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1321450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8914651 Adss2 adenylosuccinate synthase 2 gene DOID:630 genetic disease ISO RGD:1321450 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914651 Adss2 adenylosuccinate synthase 2 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1321450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 8914651 Adss2 adenylosuccinate synthase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8914688 Ppp1r3c protein phosphatase 1 regulatory subunit 3C gene DOID:10283 prostate cancer ISO RGD:1319302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8914688 Ppp1r3c protein phosphatase 1 regulatory subunit 3C gene DOID:630 genetic disease ISO RGD:1319302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914688 Ppp1r3c protein phosphatase 1 regulatory subunit 3C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8914688 Ppp1r3c protein phosphatase 1 regulatory subunit 3C gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319303 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8914694 Tmsb10 thymosin beta 10 gene DOID:3042 allergic contact dermatitis ISO RGD:731359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 8914694 Tmsb10 thymosin beta 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8914700 Ppp2r5e protein phosphatase 2 regulatory subunit B'epsilon gene DOID:224 transient cerebral ischemia treatment ISO RGD:1305657 D RGD:9068941 20230105 RGD PMID:30712471|REF_RGD_ID:155791663 8914700 Ppp2r5e protein phosphatase 2 regulatory subunit B'epsilon gene DOID:630 genetic disease ISO RGD:1313814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914700 Ppp2r5e protein phosphatase 2 regulatory subunit B'epsilon gene DOID:9003882 Chromosomal Instability ISO RGD:1313814 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25772433 8914700 Ppp2r5e protein phosphatase 2 regulatory subunit B'epsilon gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1313814 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25772433 8914727 Slc35f1 solute carrier family 35 member F1 gene DOID:0060224 atrial fibrillation ISO RGD:1353208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8914727 Slc35f1 solute carrier family 35 member F1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1353208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8914727 Slc35f1 solute carrier family 35 member F1 gene DOID:1059 intellectual disability ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8914727 Slc35f1 solute carrier family 35 member F1 gene DOID:10907 microcephaly ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8914727 Slc35f1 solute carrier family 35 member F1 gene DOID:1184 nephrotic syndrome ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 8914727 Slc35f1 solute carrier family 35 member F1 gene DOID:12849 autistic disorder ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 8914727 Slc35f1 solute carrier family 35 member F1 gene DOID:1826 epilepsy ISO RGD:1353208 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8914727 Slc35f1 solute carrier family 35 member F1 gene DOID:630 genetic disease ISO RGD:1353208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914727 Slc35f1 solute carrier family 35 member F1 gene DOID:9000495 Tremor ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8914727 Slc35f1 solute carrier family 35 member F1 gene DOID:9008086 Developmental Disabilities ISO RGD:1353208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24824130 8914738 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:0070484 Legius syndrome ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Legius syndrome PMID:21548021|PMID:22753041|PMID:28492532 8914738 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:0111980 immunodeficiency 64 ISO RGD:69137 D RGD:7240710 20190904 OMIM 8914738 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:0111980 immunodeficiency 64 ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 64 PMID:25741868|PMID:27776107|PMID:28492532|PMID:28822832|PMID:29155103|PMID:29282224 8914738 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:2717 Bloom syndrome ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8914738 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:289 endometriosis ISO RGD:69137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8914738 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:5419 schizophrenia ISO RGD:69137 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8914738 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:630 genetic disease ISO RGD:69137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8914738 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:69137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8914738 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:69137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 8914738 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:69138 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8914738 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:9119 acute myeloid leukemia ISO RGD:69137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 8914738 Rasgrp1 RAS guanyl releasing protein 1 gene DOID:9256 colorectal cancer ISO RGD:69137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:0080202 adenoid cystic carcinoma treatment ISO RGD:1354062 D RGD:9068941 20211022 RGD PMID:23027130|REF_RGD_ID:150519921 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:10534 stomach cancer ameliorates ISO RGD:1354062 D RGD:9068941 20211022 RGD PMID:30452981|REF_RGD_ID:150519920 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1354062 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Neonatal cardiomyopathy PMID:25741868 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:1824 status epilepticus ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:1354062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:289 endometriosis ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:3008 invasive ductal carcinoma ISO RGD:1354062 D RGD:9068941 20211022 RGD mRNA,protein:increased expression:breast: PMID:20802235|REF_RGD_ID:150520014 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:3070 high grade glioma ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354062 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:10209957|REF_RGD_ID:2325663 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1354062 D RGD:9068941 20200609 RGD PMID:11295066|REF_RGD_ID:2325660 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:5154 borna disease ISO RGD:3214 D RGD:9068941 20240222 RGD mRNA:decreased expression:cerebellum,hippocampus PMID:11175319|REF_RGD_ID:2325644 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1354062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:630 genetic disease ISO RGD:1354062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3214 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord PMID:18585435|REF_RGD_ID:2308892 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9000403 Animal Mammary Neoplasms ameliorates ISO RGD:737043 D RGD:9068941 20211022 RGD PMID:20802235|REF_RGD_ID:150520014 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9004354 Alcohol-Related Disorders ISO RGD:3214 D RGD:9068941 20240229 RGD protein:altered expression:brain PMID:15188276|PMID:15188277|REF_RGD_ID:401976554|REF_RGD_ID:401976555 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3214 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglion PMID:9541170|REF_RGD_ID:2325654 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9009121 lung metastasis ameliorates ISO RGD:737043 D RGD:9068941 20211022 RGD associated with mammary carcinoma PMID:20802235|REF_RGD_ID:150520014 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1354062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29119387 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9256 colorectal cancer ISO RGD:1354062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8914759 Ntrk3 neurotrophic receptor tyrosine kinase 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1354062 D RGD:9068941 20211022 RGD PMID:33593392|REF_RGD_ID:150520009 8914794 Acbd6 acyl-CoA binding domain containing 6 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8914794 Acbd6 acyl-CoA binding domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8914794 Acbd6 acyl-CoA binding domain containing 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8914794 Acbd6 acyl-CoA binding domain containing 6 gene DOID:630 genetic disease ISO RGD:1312817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8914794 Acbd6 acyl-CoA binding domain containing 6 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1312817 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 PMID:25741868 8914794 Acbd6 acyl-CoA binding domain containing 6 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant PMID:28492532 8914794 Acbd6 acyl-CoA binding domain containing 6 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8914794 Acbd6 acyl-CoA binding domain containing 6 gene DOID:9008403 Combined Pituitary Hormone Deficiency 4 ISO RGD:1312817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica PMID:11567216|PMID:17201807|PMID:17527005|PMID:18073311|PMID:18445675|PMID:20534763|PMID:23990694|PMID:24033266|PMID:25741868|PMID:25910213|PMID:27820671|PMID:28492532 8914794 Acbd6 acyl-CoA binding domain containing 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8914806 Capn9 calpain 9 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:731611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 8914806 Capn9 calpain 9 gene DOID:10534 stomach cancer ISO RGD:731611 D RGD:9068941 20200609 RGD PMID:10835488|REF_RGD_ID:734688 8914806 Capn9 calpain 9 gene DOID:1540 parathyroid carcinoma ISO RGD:731611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8914806 Capn9 calpain 9 gene DOID:630 genetic disease ISO RGD:731611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914806 Capn9 calpain 9 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:731611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8914806 Capn9 calpain 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8914831 Sfxn2 sideroflexin 2 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1314569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 8914831 Sfxn2 sideroflexin 2 gene DOID:630 genetic disease ISO RGD:1314569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914868 LOC102012159 keratin-associated protein 11-1 gene DOID:630 genetic disease ISO RGD:1350814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914873 Sdr42e2 short chain dehydrogenase/reductase family 42E, member 2 gene DOID:0060399 chromosome 16p12.1 deletion syndrome ISO RGD:5688458 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb PMID:25741868 8914873 Sdr42e2 short chain dehydrogenase/reductase family 42E, member 2 gene DOID:12849 autistic disorder ISO RGD:5688458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8914873 Sdr42e2 short chain dehydrogenase/reductase family 42E, member 2 gene DOID:5419 schizophrenia ISO RGD:5688458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8914915 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:0050692 Brody myopathy ISO RGD:1344154 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:28492532 8914915 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb ISO RGD:1344154 D RGD:8554872 20231226 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 8914915 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1344154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 8914915 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8914915 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:2661 myoepithelioma ISO RGD:1344154 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8914915 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:5419 schizophrenia ISO RGD:1344154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8914915 Rabep2 rabaptin, RAB GTPase binding effector protein 2 gene DOID:630 genetic disease ISO RGD:1344154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914938 Myrip myosin VIIA and Rab interacting protein gene DOID:630 genetic disease ISO RGD:1351320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914964 Mrap melanocortin 2 receptor accessory protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8914964 Mrap melanocortin 2 receptor accessory protein gene DOID:0060898 Parkinson's disease 20 ISO RGD:1603024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8914964 Mrap melanocortin 2 receptor accessory protein gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1603024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8914964 Mrap melanocortin 2 receptor accessory protein gene DOID:0080621 glucocorticoid deficiency 1 ISO RGD:1603024 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 1 PMID:15654338|PMID:24033266|PMID:25741868 8914964 Mrap melanocortin 2 receptor accessory protein gene DOID:630 genetic disease ISO RGD:1603024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914964 Mrap melanocortin 2 receptor accessory protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1603024 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8914964 Mrap melanocortin 2 receptor accessory protein gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1603024 D RGD:7240710 20180130 OMIM 8914964 Mrap melanocortin 2 receptor accessory protein gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1603024 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 2 | ClinVar Annotator: match by term: MRAP-related condition PMID:15654338|PMID:16868047|PMID:24033266|PMID:25741868|PMID:28492532 8914964 Mrap melanocortin 2 receptor accessory protein gene DOID:9553 adrenal gland disease ISO RGD:1621455 D RGD:9068941 20220825 MouseDO 8914971 Prss35 serine protease 35 gene DOID:0111953 immunodeficiency 23 ISO RGD:1322654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 8914971 Prss35 serine protease 35 gene DOID:630 genetic disease ISO RGD:1322654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914971 Prss35 serine protease 35 gene DOID:9005369 Hepatomegaly ISO RGD:1322654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8914975 Ssrp1 structure specific recognition protein 1 gene DOID:1059 intellectual disability ISO RGD:734366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8914975 Ssrp1 structure specific recognition protein 1 gene DOID:630 genetic disease ISO RGD:734366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8914996 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:0080489 GM1 gangliosidosis type 3 ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 3 PMID:16941474|PMID:17576681|PMID:21497194|PMID:25741868|PMID:28492532|PMID:29160035|PMID:8198123|PMID:8199591|PMID:9536098 8914996 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:0080501 GM1 gangliosidosis type 2 ISO RGD:2304158 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 2 PMID:16199547|PMID:16941474|PMID:17576681|PMID:18524657|PMID:21497194|PMID:25741868|PMID:28492532|PMID:29160035|PMID:36265282|PMID:8198123|PMID:8199591|PMID:9536098 8914996 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:2304158 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:16199547|PMID:16941474|PMID:17576681|PMID:18524657|PMID:21497194|PMID:25741868|PMID:28492532|PMID:29160035|PMID:36265282|PMID:8198123|PMID:8199591|PMID:9536098 8914996 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:28492532 8914996 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:0111392 mucopolysaccharidosis type IVB ISO RGD:2304158 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:16199547|PMID:16941474|PMID:17576681|PMID:18524657|PMID:21497194|PMID:23757202|PMID:25741868|PMID:26646981|PMID:28492532|PMID:29160035|PMID:33558080|PMID:36265282|PMID:8198123|PMID:8199591|PMID:9536098 8914996 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:12804 mucopolysaccharidosis IV ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morquio syndrome 8914996 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:3322 GM1 gangliosidosis ISO RGD:2304158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis PMID:16941474|PMID:25741868|PMID:28492532 8914996 Tmppe transmembrane protein with metallophosphoesterase domain gene DOID:630 genetic disease ISO RGD:2304158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8915005 Tcf25 transcription factor 25 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8915005 Tcf25 transcription factor 25 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602223 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8915005 Tcf25 transcription factor 25 gene DOID:13636 Fanconi anemia ISO RGD:1602223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29098742|PMID:9721219 8915005 Tcf25 transcription factor 25 gene DOID:630 genetic disease ISO RGD:1602223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915005 Tcf25 transcription factor 25 gene DOID:6846 familial melanoma ISO RGD:1602223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28492532 8915033 Asb9 ankyrin repeat and SOCS box containing 9 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1344669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 8915033 Asb9 ankyrin repeat and SOCS box containing 9 gene DOID:12849 autistic disorder ISO RGD:1344669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8915033 Asb9 ankyrin repeat and SOCS box containing 9 gene DOID:13636 Fanconi anemia ISO RGD:1344669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8915033 Asb9 ankyrin repeat and SOCS box containing 9 gene DOID:630 genetic disease ISO RGD:1344669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915033 Asb9 ankyrin repeat and SOCS box containing 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8915054 Ttc5 tetratricopeptide repeat domain 5 gene DOID:630 genetic disease ISO RGD:1322658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915054 Ttc5 tetratricopeptide repeat domain 5 gene DOID:9001167 NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM ISO RGD:1322658 D RGD:7240710 20210519 OMIM 8915054 Ttc5 tetratricopeptide repeat domain 5 gene DOID:9001167 NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM ISO RGD:1322658 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism PMID:25741868|PMID:29302074|PMID:32439809 8915087 Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8915087 Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8915087 Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353353 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8915087 Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:630 genetic disease ISO RGD:1353353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915087 Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 gene DOID:9005698 ZTTK Syndrome ISO RGD:1353353 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8915093 Lancl2 LanC like glutathione S-transferase 2 gene DOID:12849 autistic disorder ISO RGD:1321926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8915093 Lancl2 LanC like glutathione S-transferase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8915093 Lancl2 LanC like glutathione S-transferase 2 gene DOID:630 genetic disease ISO RGD:1321926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915109 Hmg20a high mobility group 20A gene DOID:2717 Bloom syndrome ISO RGD:1350467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8915109 Hmg20a high mobility group 20A gene DOID:5419 schizophrenia ISO RGD:1350467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8915109 Hmg20a high mobility group 20A gene DOID:630 genetic disease ISO RGD:1350467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915109 Hmg20a high mobility group 20A gene DOID:9256 colorectal cancer ISO RGD:1350467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8915109 Hmg20a high mobility group 20A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 8915134 Usp3 ubiquitin specific peptidase 3 gene DOID:0060224 atrial fibrillation ISO RGD:1318862 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8915134 Usp3 ubiquitin specific peptidase 3 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1318862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8915134 Usp3 ubiquitin specific peptidase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8915134 Usp3 ubiquitin specific peptidase 3 gene DOID:1227 neutropenia ISO RGD:1318862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 8915134 Usp3 ubiquitin specific peptidase 3 gene DOID:2717 Bloom syndrome ISO RGD:1318862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8915134 Usp3 ubiquitin specific peptidase 3 gene DOID:630 genetic disease ISO RGD:1318862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915134 Usp3 ubiquitin specific peptidase 3 gene DOID:9256 colorectal cancer ISO RGD:1318862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8915173 Ddah1 dimethylarginine dimethylaminohydrolase 1 gene DOID:10763 hypertension susceptibility ISO RGD:1343347 D RGD:9068941 20200609 RGD PMID:16444868|REF_RGD_ID:1625582 8915173 Ddah1 dimethylarginine dimethylaminohydrolase 1 gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:1343347 D RGD:9068941 20200609 RGD PMID:16444868|REF_RGD_ID:1625582 8915173 Ddah1 dimethylarginine dimethylaminohydrolase 1 gene DOID:3393 coronary artery disease ISO RGD:1343347 D RGD:9068941 20230722 RGD DNA:missense mutation:cds:rs997251 (human) PMID:30284143|REF_RGD_ID:329961317 8915173 Ddah1 dimethylarginine dimethylaminohydrolase 1 gene DOID:409 liver disease ISO RGD:1343347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8915173 Ddah1 dimethylarginine dimethylaminohydrolase 1 gene DOID:630 genetic disease ISO RGD:1343347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915173 Ddah1 dimethylarginine dimethylaminohydrolase 1 gene DOID:9001820 Pulmonary Arterial Hypertension exacerbates ISO XCO:0000642 D RGD:9068941 20220204 RGD compared to wild type PMID:31402164|REF_RGD_ID:151347602 8915214 Tmem255b transmembrane protein 255B gene DOID:2222 factor X deficiency ISO RGD:1602045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8915214 Tmem255b transmembrane protein 255B gene DOID:630 genetic disease ISO RGD:1602045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915235 Senp6 SUMO specific peptidase 6 gene DOID:630 genetic disease ISO RGD:1312076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915235 Senp6 SUMO specific peptidase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8915263 Arhgap19 Rho GTPase activating protein 19 gene DOID:630 genetic disease ISO RGD:1351019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915280 Kifc3 kinesin family member C3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8915280 Kifc3 kinesin family member C3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8915280 Kifc3 kinesin family member C3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1317029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8915280 Kifc3 kinesin family member C3 gene DOID:630 genetic disease ISO RGD:1317029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915352 Tmem59 transmembrane protein 59 gene DOID:630 genetic disease ISO RGD:1321145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915352 Tmem59 transmembrane protein 59 gene DOID:9002239 Estrogen Resistance ISO RGD:1321145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Estrogen resistance syndrome 8915368 Atg4c autophagy related 4C cysteine peptidase gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1317140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:28492532 8915368 Atg4c autophagy related 4C cysteine peptidase gene DOID:1059 intellectual disability ISO RGD:1317140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8915368 Atg4c autophagy related 4C cysteine peptidase gene DOID:630 genetic disease ISO RGD:1317140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915368 Atg4c autophagy related 4C cysteine peptidase gene DOID:8778 Crohn's disease ISO RGD:1317140 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 8915383 Sntg2 syntrophin gamma 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1350202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20808228 8915383 Sntg2 syntrophin gamma 2 gene DOID:12849 autistic disorder ISO RGD:1350202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17292328 8915383 Sntg2 syntrophin gamma 2 gene DOID:630 genetic disease ISO RGD:1350202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915383 Sntg2 syntrophin gamma 2 gene DOID:9002189 High Myopia ISO RGD:1350202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8915404 Lrrc73 leucine rich repeat containing 73 gene DOID:0050444 infantile Refsum disease ISO RGD:1346466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8915404 Lrrc73 leucine rich repeat containing 73 gene DOID:630 genetic disease ISO RGD:1346466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915404 Lrrc73 leucine rich repeat containing 73 gene DOID:905 Zellweger syndrome ISO RGD:1346466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8915419 Unc13d unc-13 homolog D gene DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 ISO RGD:1604204 D RGD:7240710 20180130 OMIM 8915419 Unc13d unc-13 homolog D gene DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 ISO RGD:1604204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 | ClinVar Annotator: match by term: UNC13D-related condition PMID:10459864|PMID:14622600|PMID:15466010|PMID:15548590|PMID:16199547|PMID:16278825|PMID:16825436|PMID:17576681|PMID:17993578|PMID:18240215|PMID:18492689|PMID:18759271|PMID:19484379|PMID:19704116|PMID:19903216|PMID:20015888|PMID:20823128|PMID:21094958|PMID:21152410|PMID:21182842|PMID:21248318|PMID:21370424|PMID:21600143|PMID:21653941|PMID:21674762|PMID:21755595|PMID:21881043|PMID:21931115|PMID:22508512|PMID:23180437|PMID:23560006|PMID:23669735|PMID:23672263|PMID:23840885|PMID:24033266|PMID:24043286|PMID:24139496|PMID:24309606|PMID:24459464|PMID:24470399|PMID:24825797|PMID:24842371|PMID:24916509|PMID:24935083|PMID:25502423|PMID:25553300|PMID:25573973|PMID:25741868|PMID:25901543|PMID:26342526|PMID:26419432|PMID:26684649|PMID:27123661|PMID:27164702|PMID:27209435|PMID:27781387|PMID:27872624|PMID:27896523|PMID:27914778|PMID:28353193|PMID:28399723|PMID:28492532|PMID:28748566|PMID:28848550|PMID:29113160|PMID:29262924|PMID:29357941|PMID:29409136|PMID:29415165|PMID:29549174|PMID:29665027|PMID:29783935|PMID:2978935|PMID:29864493|PMID:29930202|PMID:30220951|PMID:30899265|PMID:31388699|PMID:31681265|PMID:32135276|PMID:32222431|PMID:32245292|PMID:32327331|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32888943|PMID:33658321|PMID:33746956|PMID:34083498|PMID:34106167|PMID:34170459|PMID:34339548|PMID:34677667|PMID:36155879|PMID:36706356|PMID:9536098 8915419 Unc13d unc-13 homolog D gene DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 susceptibility ISO RGD:1604204 D RGD:9068941 20200609 RGD DNA:deletions, insertion, snps:exons, intron:multiple (human) PMID:14622600|REF_RGD_ID:1600451 8915419 Unc13d unc-13 homolog D gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1604204 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10459864|PMID:14622600|PMID:15466010|PMID:16199547|PMID:16278825|PMID:16825436|PMID:17576681|PMID:17993578|PMID:18240215|PMID:18492689|PMID:18759271|PMID:19484379|PMID:19704116|PMID:20823128|PMID:21094958|PMID:21152410|PMID:21248318|PMID:21370424|PMID:21600143|PMID:21674762|PMID:21755595|PMID:21881043|PMID:23180437|PMID:23840885|PMID:24033266|PMID:24139496|PMID:24459464|PMID:24470399|PMID:24916509|PMID:25502423|PMID:25573973|PMID:25741868|PMID:26342526|PMID:28399723|PMID:28492532|PMID:28748566|PMID:29113160|PMID:29262924|PMID:29357941|PMID:29415165|PMID:29549174|PMID:30899265|PMID:32222431|PMID:32375849|PMID:32542393|PMID:32638196|PMID:33746956|PMID:34170459|PMID:34339548|PMID:34677667|PMID:36155879|PMID:9536098 8915419 Unc13d unc-13 homolog D gene DOID:630 genetic disease ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8915419 Unc13d unc-13 homolog D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8915419 Unc13d unc-13 homolog D gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1604204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis PMID:14622600|PMID:16778144|PMID:16825436|PMID:20823128|PMID:21248318|PMID:21931115|PMID:23180437|PMID:23560006|PMID:24470399|PMID:24825797|PMID:24842371|PMID:24935083|PMID:25553300|PMID:25573973|PMID:25741868|PMID:27123661|PMID:27896523|PMID:28492532|PMID:28848550|PMID:29262924|PMID:29312353|PMID:29549174|PMID:31388699|PMID:32327331|PMID:32542393|PMID:33746956 8915468 Riox2 ribosomal oxygenase 2 gene DOID:630 genetic disease ISO RGD:1602998 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915468 Riox2 ribosomal oxygenase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1602998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15897898 8915500 Hormad2 HORMA domain containing 2 gene DOID:630 genetic disease ISO RGD:1348799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915530 Slc22a13 solute carrier family 22 member 13 gene DOID:0050451 Brugada syndrome ISO RGD:1315683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 8915530 Slc22a13 solute carrier family 22 member 13 gene DOID:630 genetic disease ISO RGD:1315683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915530 Slc22a13 solute carrier family 22 member 13 gene DOID:9001436 Immunodeficiency 68 ISO RGD:1315683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 8915530 Slc22a13 solute carrier family 22 member 13 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1315683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8915544 LOC102015813 chromosome unknown open reading frame, human C7orf50 gene DOID:630 genetic disease ISO RGD:1603950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915560 Znhit2 zinc finger HIT-type containing 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8915560 Znhit2 zinc finger HIT-type containing 2 gene DOID:1059 intellectual disability ISO RGD:1348570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8915560 Znhit2 zinc finger HIT-type containing 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1348570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8915560 Znhit2 zinc finger HIT-type containing 2 gene DOID:2746 glycogen storage disease V ISO RGD:1348570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8915560 Znhit2 zinc finger HIT-type containing 2 gene DOID:3070 high grade glioma ISO RGD:1348570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8915560 Znhit2 zinc finger HIT-type containing 2 gene DOID:630 genetic disease ISO RGD:1348570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915565 CUNH11orf42 chromosome unknown C11orf42 homolog gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8915565 CUNH11orf42 chromosome unknown C11orf42 homolog gene DOID:630 genetic disease ISO RGD:1602976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915575 Ada adenosine deaminase gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:736149 D RGD:9068941 20220610 RGD protein:increased activity:saliva: PMID:20379753|REF_RGD_ID:152995262 8915575 Ada adenosine deaminase gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:736149 D RGD:9068941 20220610 RGD PMID:27221867|REF_RGD_ID:152995268 8915575 Ada adenosine deaminase gene DOID:0060041 autism spectrum disorder ISO RGD:736149 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8915575 Ada adenosine deaminase gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:736149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive PMID:1346349|PMID:25326637|PMID:25741868|PMID:26376800|PMID:26467025|PMID:2651461|PMID:2773932|PMID:28492532|PMID:3182793|PMID:3475710|PMID:8401541|PMID:8614422|PMID:9758612 8915575 Ada adenosine deaminase gene DOID:10113 trypanosomiasis ISO RGD:2031 D RGD:9068941 20200609 RGD PMID:20809996|REF_RGD_ID:5128861 8915575 Ada adenosine deaminase gene DOID:10247 pleurisy ISO RGD:10081 D RGD:9068941 20200609 RGD PMID:16860713|REF_RGD_ID:5128847 8915575 Ada adenosine deaminase gene DOID:10457 Legionnaires' disease ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9255891|REF_RGD_ID:5128857 8915575 Ada adenosine deaminase gene DOID:10534 stomach cancer ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased expression:stomach: PMID:8076377|REF_RGD_ID:152995290 8915575 Ada adenosine deaminase gene DOID:10534 stomach cancer treatment ISO RGD:736149 D RGD:9068941 20220610 RGD PMID:4010093|REF_RGD_ID:152995265 8915575 Ada adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:9068941 20220616 RGD PMID:18357489|REF_RGD_ID:152995288 8915575 Ada adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased activity:pleural fluid: PMID:21860532|REF_RGD_ID:152995280 8915575 Ada adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased expression:serum: PMID:1689629|REF_RGD_ID:152995292 8915575 Ada adenosine deaminase gene DOID:106 pleural tuberculosis ISO RGD:736149 D RGD:9068941 20220707 RGD protein:increased activity:serum: PMID:1818842|REF_RGD_ID:152998934 8915575 Ada adenosine deaminase gene DOID:10763 hypertension ISO RGD:2031 D RGD:9068941 20200609 RGD PMID:9605386|REF_RGD_ID:1624292 8915575 Ada adenosine deaminase gene DOID:10808 gastric ulcer ISO RGD:736149 D RGD:9068941 20220708 RGD protein:decreased activity:stomach: PMID:20029210|REF_RGD_ID:152998951 8915575 Ada adenosine deaminase gene DOID:11100 Q fever ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9255891|REF_RGD_ID:5128857 8915575 Ada adenosine deaminase gene DOID:11396 pulmonary edema ISO RGD:2031 D RGD:9068941 20200609 RGD associated with Acute Lung Injury PMID:20228181|REF_RGD_ID:5128842 8915575 Ada adenosine deaminase gene DOID:1168 familial hyperlipidemia treatment ISO RGD:2031 D RGD:9068941 20220708 RGD PMID:30679022|REF_RGD_ID:152998957 8915575 Ada adenosine deaminase gene DOID:12849 autistic disorder ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11354825 8915575 Ada adenosine deaminase gene DOID:13223 uterine fibroid susceptibility ISO RGD:736149 D RGD:9068941 20220610 RGD DNA:polymorphisms: : PMID:26918693|REF_RGD_ID:152995264 8915575 Ada adenosine deaminase gene DOID:13276 Mycoplasma pneumoniae pneumonia ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9255891|REF_RGD_ID:5128857 8915575 Ada adenosine deaminase gene DOID:13406 pulmonary sarcoidosis ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:10410539|REF_RGD_ID:5128856 8915575 Ada adenosine deaminase gene DOID:14484 sporotrichosis ISO RGD:2031 D RGD:9068941 20220617 RGD protein:altered activity:serum,lymphocyte PMID:22169893|REF_RGD_ID:152995407 8915575 Ada adenosine deaminase gene DOID:1790 malignant mesothelioma treatment ISO RGD:736149 D RGD:9068941 20220616 RGD PMID:17952507|REF_RGD_ID:152995277 8915575 Ada adenosine deaminase gene DOID:219 colon cancer ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased activity:colon PMID:15820509|REF_RGD_ID:152995289 8915575 Ada adenosine deaminase gene DOID:219 colon cancer susceptibility ISO RGD:736149 D RGD:9068941 20220610 RGD DNA:polymorphisms,haplotypes: : PMID:20590444|REF_RGD_ID:152995263 8915575 Ada adenosine deaminase gene DOID:2234 focal epilepsy ISO RGD:736149 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8915575 Ada adenosine deaminase gene DOID:2297 leptospirosis ISO RGD:2031 D RGD:9068941 20200609 RGD PMID:21320715|REF_RGD_ID:5128858 8915575 Ada adenosine deaminase gene DOID:2841 asthma susceptibility ISO RGD:736149 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:16754522|REF_RGD_ID:5128848 8915575 Ada adenosine deaminase gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:736149 D RGD:9068941 20220610 RGD protein:decreased activity:larynx PMID:8138195|REF_RGD_ID:152995273 8915575 Ada adenosine deaminase gene DOID:2957 pulmonary tuberculosis ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:plasma, respiratory system fluid/secretion PMID:12194640|REF_RGD_ID:5128854 8915575 Ada adenosine deaminase gene DOID:2957 pulmonary tuberculosis ISO RGD:736149 D RGD:9068941 20220610 RGD protein:increased activity:sputum: PMID:19460251|REF_RGD_ID:152995271 8915575 Ada adenosine deaminase gene DOID:2957 pulmonary tuberculosis ISO RGD:736149 D RGD:9068941 20220616 RGD protein:increased activity:blood, pulmonary alveolar duct PMID:2212911|REF_RGD_ID:152995390 8915575 Ada adenosine deaminase gene DOID:319 spinal cord disease ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16325979 8915575 Ada adenosine deaminase gene DOID:3908 lung non-small cell carcinoma ISO RGD:736149 D RGD:9068941 20220616 RGD protein:decreased expression:lymphocyte,erythrocyte: PMID:31375946|REF_RGD_ID:152995295 8915575 Ada adenosine deaminase gene DOID:4195 hyperglycemia ISO RGD:2031 D RGD:9068941 20200609 RGD protein:decreased expression:mesangial cell PMID:12472193|REF_RGD_ID:1624290 8915575 Ada adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:7240710 20180130 OMIM 8915575 Ada adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10200056|PMID:11067872|PMID:11160213|PMID:11313286|PMID:11354825|PMID:11807006|PMID:1284479|PMID:1346349|PMID:14499267|PMID:16199547|PMID:16276484|PMID:1680289|PMID:16825284|PMID:1696926|PMID:17001642|PMID:17181544|PMID:17185467|PMID:17576681|PMID:18952502|PMID:19179314|PMID:19665771|PMID:1974554|PMID:19830125|PMID:20544538|PMID:21228398|PMID:21410451|PMID:21624848|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23260757|PMID:23348723|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25875700|PMID:26255240|PMID:26376800|PMID:2651461|PMID:27095930|PMID:27129325|PMID:27484032|PMID:2758612|PMID:2773932|PMID:2783588|PMID:28266921|PMID:28492532|PMID:29744787|PMID:3007108|PMID:30290665|PMID:31031743|PMID:31319225|PMID:31589898|PMID:31681265|PMID:31781678|PMID:3182793|PMID:31858364|PMID:32135276|PMID:32245326|PMID:32307643|PMID:32445296|PMID:3366897|PMID:3475710|PMID:3684597|PMID:3839802|PMID:46025|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:8023852|PMID:8031011|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8589684|PMID:8614422|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 8915575 Ada adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10200056|PMID:11067872|PMID:11160213|PMID:11313286|PMID:11354825|PMID:11807006|PMID:1284479|PMID:1346349|PMID:14499267|PMID:16199547|PMID:16276484|PMID:1680289|PMID:16825284|PMID:1696926|PMID:17001642|PMID:17181544|PMID:17185467|PMID:17576681|PMID:18952502|PMID:19179314|PMID:19665771|PMID:1974554|PMID:19830125|PMID:20544538|PMID:21228398|PMID:21410451|PMID:21624848|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23260757|PMID:23348723|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25875700|PMID:26255240|PMID:26376800|PMID:26467025|PMID:2651461|PMID:27095930|PMID:27129325|PMID:27484032|PMID:2758612|PMID:2773932|PMID:2783588|PMID:28266921|PMID:28492532|PMID:29744787|PMID:3007108|PMID:30290665|PMID:31031743|PMID:31319225|PMID:31589898|PMID:31681265|PMID:31781678|PMID:3182793|PMID:31858364|PMID:32135276|PMID:32245326|PMID:32307643|PMID:32445296|PMID:3366897|PMID:3475710|PMID:3684597|PMID:3839802|PMID:46025|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:8023852|PMID:8031011|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8433873|PMID:8589684|PMID:8614422|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 8915575 Ada adenosine deaminase gene DOID:5810 adenosine deaminase deficiency ISO RGD:736149 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10200056|PMID:11067872|PMID:11157502|PMID:11160213|PMID:11313286|PMID:11354825|PMID:11807006|PMID:11901152|PMID:1284479|PMID:1346349|PMID:1401934|PMID:14499267|PMID:16199547|PMID:16276484|PMID:1680289|PMID:16825284|PMID:1696926|PMID:17001642|PMID:17181544|PMID:17185467|PMID:17576681|PMID:18952502|PMID:19179314|PMID:1925539|PMID:19665771|PMID:1974554|PMID:19830125|PMID:20039061|PMID:20544538|PMID:21228398|PMID:21410451|PMID:21624848|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23260757|PMID:23348723|PMID:24033266|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25875700|PMID:25954555|PMID:26255240|PMID:26376800|PMID:26467025|PMID:2651461|PMID:27095930|PMID:27129325|PMID:27484032|PMID:2758612|PMID:2773932|PMID:2783588|PMID:27872624|PMID:28266921|PMID:28346229|PMID:28492532|PMID:28747913|PMID:29744787|PMID:3007108|PMID:30290665|PMID:30778343|PMID:30858051|PMID:31031743|PMID:31319225|PMID:31589898|PMID:31681265|PMID:31781678|PMID:3182793|PMID:31858364|PMID:32135276|PMID:32245326|PMID:32307643|PMID:32445296|PMID:32888943|PMID:33628209|PMID:3366897|PMID:33975924|PMID:34502390|PMID:3475710|PMID:34975878|PMID:36685585|PMID:3684597|PMID:3839802|PMID:46025|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:7691348|PMID:8023852|PMID:8031011|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8433873|PMID:8589684|PMID:8614422|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 8915575 Ada adenosine deaminase gene DOID:612 primary immunodeficiency disease ISO RGD:10081 D RGD:9068941 20200609 RGD PMID:9478961|REF_RGD_ID:1300251 8915575 Ada adenosine deaminase gene DOID:614 lymphopenia ISO RGD:10081 D RGD:9068941 20200609 RGD PMID:9478961|REF_RGD_ID:1300251 8915575 Ada adenosine deaminase gene DOID:627 severe combined immunodeficiency ISO RGD:736149 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:11067872|PMID:11157502|PMID:1284479|PMID:1346349|PMID:1401934|PMID:14499267|PMID:16199547|PMID:1680289|PMID:16825284|PMID:17001642|PMID:17576681|PMID:18952502|PMID:19179314|PMID:1925539|PMID:1974554|PMID:19830125|PMID:21664875|PMID:2166947|PMID:21865538|PMID:22409989|PMID:22447032|PMID:22764473|PMID:22968453|PMID:23348723|PMID:24033266|PMID:25525159|PMID:25741868|PMID:25875700|PMID:26255240|PMID:26376800|PMID:2651461|PMID:27129325|PMID:2758612|PMID:2773932|PMID:2783588|PMID:27872624|PMID:28346229|PMID:28492532|PMID:29744787|PMID:30290665|PMID:31031743|PMID:31681265|PMID:3182793|PMID:31858364|PMID:32245326|PMID:32307643|PMID:32888943|PMID:34502390|PMID:3475710|PMID:3839802|PMID:498598|PMID:6208479|PMID:7554472|PMID:7599635|PMID:7691348|PMID:8023852|PMID:8051429|PMID:8120281|PMID:8178821|PMID:8227344|PMID:8258146|PMID:8299233|PMID:8401541|PMID:8433873|PMID:8589684|PMID:8673127|PMID:9108404|PMID:9225964|PMID:9361033|PMID:9414266|PMID:9536098|PMID:9616253|PMID:9758612|PMID:980079|PMID:9806422 8915575 Ada adenosine deaminase gene DOID:630 genetic disease ISO RGD:736149 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915575 Ada adenosine deaminase gene DOID:8283 peritonitis ISO RGD:2031 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid PMID:15969953|REF_RGD_ID:1624309 8915575 Ada adenosine deaminase gene DOID:8283 peritonitis ISO RGD:2031 D RGD:9068941 20220617 RGD protein:decreased activity:serum PMID:15373900|REF_RGD_ID:152995406 8915575 Ada adenosine deaminase gene DOID:850 lung disease ISO RGD:2031 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:lung PMID:18561952|REF_RGD_ID:5128845 8915575 Ada adenosine deaminase gene DOID:8618 oral cavity cancer ISO RGD:736149 D RGD:9068941 20220616 RGD protein:decreased activity:saliva: PMID:16120121|REF_RGD_ID:152995281 8915575 Ada adenosine deaminase gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:736149 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8915575 Ada adenosine deaminase gene DOID:9000528 Coronary Disease ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:leukocyte PMID:17259686|REF_RGD_ID:1624286 8915575 Ada adenosine deaminase gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:2031 D RGD:9068941 20220617 RGD PMID:27491636|REF_RGD_ID:152995409 8915575 Ada adenosine deaminase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8915575 Ada adenosine deaminase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2031 D RGD:9068941 20220616 RGD protein:increased activity:brain: PMID:25720338|REF_RGD_ID:152995398 8915575 Ada adenosine deaminase gene DOID:9005172 Lung Neoplasms ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2305558 8915575 Ada adenosine deaminase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10081 D RGD:9068941 20200609 RGD PMID:9784839|REF_RGD_ID:2313540 8915575 Ada adenosine deaminase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2031 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:19166862|REF_RGD_ID:2313538 8915575 Ada adenosine deaminase gene DOID:9005883 Pleural Effusion treatment ISO RGD:736149 D RGD:9068941 20220610 RGD PMID:25547995|REF_RGD_ID:152995274 8915575 Ada adenosine deaminase gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:2031 D RGD:9068941 20220616 RGD PMID:30280312|REF_RGD_ID:152995395 8915575 Ada adenosine deaminase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2031 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21161045|REF_RGD_ID:5128859 8915575 Ada adenosine deaminase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2031 D RGD:9068941 20200609 RGD protein:increased expression PMID:16641873|REF_RGD_ID:1624305 8915575 Ada adenosine deaminase gene DOID:9007871 Malignant Pleural Effusions ISO RGD:736149 D RGD:9068941 20220616 RGD protein:decreased expression:serum: PMID:1689629|REF_RGD_ID:152995292 8915575 Ada adenosine deaminase gene DOID:9007871 Malignant Pleural Effusions ISO RGD:736149 D RGD:9068941 20220707 RGD protein:increased activity:serum: PMID:1818842|REF_RGD_ID:152998934 8915575 Ada adenosine deaminase gene DOID:9007871 Malignant Pleural Effusions disease_progression ISO RGD:736149 D RGD:9068941 20220610 RGD PMID:27300446|REF_RGD_ID:152995272 8915575 Ada adenosine deaminase gene DOID:9009039 Hyperemia ISO RGD:736149 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2502780|PMID:7949234 8915575 Ada adenosine deaminase gene DOID:9256 colorectal cancer disease_progression ISO RGD:736149 D RGD:9068941 20220616 RGD PMID:11114712|REF_RGD_ID:152995282 8915575 Ada adenosine deaminase gene DOID:9351 diabetes mellitus treatment ISO RGD:2031 D RGD:9068941 20220708 RGD PMID:25955284|REF_RGD_ID:152998952 8915575 Ada adenosine deaminase gene DOID:9352 type 2 diabetes mellitus ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15168879|REF_RGD_ID:2313539 8915575 Ada adenosine deaminase gene DOID:9970 obesity ISO RGD:736149 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16501670|REF_RGD_ID:1624289 8915625 Fam163b family with sequence similarity 163 member B gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8915625 Fam163b family with sequence similarity 163 member B gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8915625 Fam163b family with sequence similarity 163 member B gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1604863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8915625 Fam163b family with sequence similarity 163 member B gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8915625 Fam163b family with sequence similarity 163 member B gene DOID:0081097 Rafiq syndrome ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8915625 Fam163b family with sequence similarity 163 member B gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1604863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8915625 Fam163b family with sequence similarity 163 member B gene DOID:3652 Leigh disease ISO RGD:1604863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8915625 Fam163b family with sequence similarity 163 member B gene DOID:630 genetic disease ISO RGD:1604863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:0050855 renal fibrosis ISO RGD:1309063 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:15647835|REF_RGD_ID:7244136 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:0080162 lupus nephritis disease_progression ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:12874250|REF_RGD_ID:7244140 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:0080322 polycystic kidney disease ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:22025716|REF_RGD_ID:7243974 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:10283 prostate cancer disease_progression ISO RGD:1319194 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:fibromuscular stroma, malignant epithelia:correlated with high histological grade and increased tumor size PMID:17705178|REF_RGD_ID:2298559 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:10286 prostate carcinoma ISO RGD:1319194 D RGD:9068941 20200609 RGD protein:increased activity:tumor:significant increase in constitutive activation vs adjacent normal tissue and unrelated normal prostate, by EMSA PMID:11912448|REF_RGD_ID:2298560 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:10966 lipoid nephrosis ISO RGD:1319194 D RGD:9068941 20200609 RGD DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human) PMID:19011907|REF_RGD_ID:7244144 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:10966 lipoid nephrosis no_association ISO RGD:1319194 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:2964G>A (human) PMID:15687724|REF_RGD_ID:7244146 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:10966 lipoid nephrosis severity ISO RGD:1319194 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:g.2964G>A (human) PMID:12900808|REF_RGD_ID:7244138 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:12361 Graves' disease ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:15117875|REF_RGD_ID:7244137 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:13139 crescentic glomerulonephritis ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:21985369|REF_RGD_ID:7243976 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:1394 urinary schistosomiasis severity ISO RGD:1319194 D RGD:9068941 20200609 RGD DNA:SNP:enhancer: (rs324013) PMID:18273035|REF_RGD_ID:7243977 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:1996 rectum adenocarcinoma ISO RGD:1319194 D RGD:153323313|PMID:22121102 20220818 RGD DNA:SNP:intron: (rs3024979) 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:234 colon adenocarcinoma ISO RGD:1319194 D RGD:153323313|PMID:22121102 20220818 RGD DNA:SNP:3' utr: (rs324015) (human) 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:2841 asthma ISO RGD:1309063 D RGD:9068941 20200609 RGD PMID:19087723|REF_RGD_ID:7244151 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:2841 asthma treatment ISO RGD:1309063 D RGD:9068941 20200609 RGD PMID:16083555|REF_RGD_ID:7244153 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:3310 atopic dermatitis ISO RGD:1319194 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15306842 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1319194 D RGD:153298934|PMID:33042401 20220818 RGD mRNA:increased expression:stomach (human) 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:3770 pulmonary fibrosis ISO RGD:1319194 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26699812 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:417 autoimmune disease ISO RGD:732669 D RGD:9068941 20200609 RGD PMID:22867713|REF_RGD_ID:7243973 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:630 genetic disease ISO RGD:1319194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:820 myocarditis ISO RGD:1309063 D RGD:9068941 20200609 RGD mRNA:increased expression:left heart ventricle PMID:22134058|REF_RGD_ID:7244150 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1319194 D RGD:9068941 20200609 RGD protein:increased expression:kidney, epithelial cell PMID:16399078|REF_RGD_ID:7243978 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:9000197 Edema ISO RGD:1319194 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15306842 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:9000784 Fibrosis ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:10486156|REF_RGD_ID:7829775 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:9002958 Solitary Fibrous Tumors ISO RGD:1319194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313952|PMID:23313954 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:9004009 Reperfusion Injury ISO RGD:1309063 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:9004484 Sepsis severity ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:11257135|REF_RGD_ID:7207876 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1319195 D RGD:9068941 20200609 RGD DNA:gene knockout::Balb/C-derived Stat6(-/-) mice resistant to growth of implanted Balb/C mammary tumors PMID:11086031|REF_RGD_ID:2298563 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1319194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21765211 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:1319195 D RGD:9068941 20200609 RGD PMID:12709397|REF_RGD_ID:7244143 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:9006485 Hyper-IgE Recurrent Infection Syndrome 6 ISO RGD:1319194 D RGD:7240710 20231011 OMIM 8915632 Stat6 signal transducer and activator of transcription 6 gene DOID:9006485 Hyper-IgE Recurrent Infection Syndrome 6 ISO RGD:1319194 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections PMID:36884218|PMID:37316763 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:730978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:0060041 autism spectrum disorder ISO RGD:730978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30504930 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:0060777 congenital secretory sodium diarrhea 8 ISO RGD:730978 D RGD:7240710 20190315 OMIM 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:0060777 congenital secretory sodium diarrhea 8 ISO RGD:730978 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 8 PMID:25741868|PMID:26358773|PMID:28492532|PMID:30633106|PMID:31276831|PMID:3880821 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:730978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:730978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:10763 hypertension ISO RGD:3720 D RGD:9068941 20200609 RGD PMID:11880335|PMID:12372791|REF_RGD_ID:727447|REF_RGD_ID:737665 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:13250 diarrhea ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564064 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:1485 cystic fibrosis ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:1591 renovascular hypertension treatment ISO RGD:3720 D RGD:9068941 20200609 RGD PMID:12218313|REF_RGD_ID:727424 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:5419 schizophrenia ISO RGD:730978 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:630 genetic disease ISO RGD:730978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:8437 intestinal obstruction ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466613 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:9000197 Edema ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20553904 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3720 D RGD:9068941 20200609 RGD protein:increased activity:kidney cortex PMID:16244498|REF_RGD_ID:1625673 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20003708 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:9006024 Hypotension ISO RGD:730978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564064 8915665 Slc9a3 solute carrier family 9 member A3 gene DOID:9970 obesity ISO RGD:3720 D RGD:9068941 20200609 RGD protein:decreased expression:kidney cortex PMID:16757903|REF_RGD_ID:1625672 8915690 Mipep mitochondrial intermediate peptidase gene DOID:0050700 cardiomyopathy ISO RGD:1344343 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27799064|PMID:28492532|PMID:34620555 8915690 Mipep mitochondrial intermediate peptidase gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1344343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:18285821|PMID:28492532 8915690 Mipep mitochondrial intermediate peptidase gene DOID:0111488 combined oxidative phosphorylation deficiency 31 ISO RGD:1344343 D RGD:7240710 20190315 OMIM 8915690 Mipep mitochondrial intermediate peptidase gene DOID:0111488 combined oxidative phosphorylation deficiency 31 ISO RGD:1344343 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome PMID:16199547|PMID:24033266|PMID:25741868|PMID:26762739|PMID:27799064|PMID:28492532|PMID:33587123|PMID:34620555 8915690 Mipep mitochondrial intermediate peptidase gene DOID:10907 microcephaly ISO RGD:1344343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8915690 Mipep mitochondrial intermediate peptidase gene DOID:5419 schizophrenia ISO RGD:1344343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8915690 Mipep mitochondrial intermediate peptidase gene DOID:607 paraplegia ISO RGD:1344343 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8915690 Mipep mitochondrial intermediate peptidase gene DOID:630 genetic disease ISO RGD:1344343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26762739|PMID:28492532|PMID:33587123 8915717 Wscd2 WSC domain containing 2 gene DOID:630 genetic disease ISO RGD:1605710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915717 Wscd2 WSC domain containing 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1605710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8915732 Pura purine rich element binding protein A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318376 D RGD:7240710 20180130 OMIM 8915732 Pura purine rich element binding protein A gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1318376 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: PURA Syndrome | ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation PMID:12818205|PMID:19846792|PMID:23950017|PMID:24033266|PMID:25342064|PMID:25439098|PMID:25741868|PMID:25741869|PMID:26744780|PMID:27148565|PMID:28448108|PMID:28492532|PMID:28600779|PMID:29097605|PMID:29150892|PMID:29619234|PMID:32089526|PMID:32238909|PMID:32337850|PMID:32581362|PMID:32860008|PMID:33726816|PMID:34008892|PMID:35118825|PMID:36376392|PMID:9461080 8915732 Pura purine rich element binding protein A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8915732 Pura purine rich element binding protein A gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1318376 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism PMID:25741868 8915732 Pura purine rich element binding protein A gene DOID:1059 intellectual disability ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24033266|PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32581362|PMID:32860008|PMID:34008892 8915732 Pura purine rich element binding protein A gene DOID:1826 epilepsy ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32860008|PMID:34008892 8915732 Pura purine rich element binding protein A gene DOID:2476 hereditary spastic paraplegia ISO RGD:1318376 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868 8915732 Pura purine rich element binding protein A gene DOID:543 dystonia ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb dystonia PMID:25741868 8915732 Pura purine rich element binding protein A gene DOID:630 genetic disease ISO RGD:1318376 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12818205|PMID:19846792|PMID:22614836|PMID:25741868|PMID:26744780|PMID:27148565|PMID:28448108|PMID:28492532|PMID:29097605|PMID:29150892|PMID:29307761|PMID:9461080 8915732 Pura purine rich element binding protein A gene DOID:9001793 Generalized Epilepsy ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32581362 8915732 Pura purine rich element binding protein A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8915732 Pura purine rich element binding protein A gene DOID:9004992 Apnea ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Apnea PMID:25741868 8915732 Pura purine rich element binding protein A gene DOID:9005603 Muscle Hypotonia ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32860008|PMID:34008892 8915732 Pura purine rich element binding protein A gene DOID:9006534 Nervous System Malformations ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8915732 Pura purine rich element binding protein A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318376 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8915732 Pura purine rich element binding protein A gene DOID:9008086 Developmental Disabilities ISO RGD:1318376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25439098|PMID:25741868|PMID:28448108|PMID:28492532|PMID:32860008|PMID:34008892 8915753 Klk7 kallikrein related peptidase 7 gene DOID:630 genetic disease ISO RGD:1315024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915768 Serp1 stress associated endoplasmic reticulum protein 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1601762 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8915768 Serp1 stress associated endoplasmic reticulum protein 1 gene DOID:630 genetic disease ISO RGD:1601762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915776 Cfi complement factor I gene DOID:0050419 complement factor I deficiency ISO RGD:736809 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Complement factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25899302|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:27939104|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30890598|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:35069568|PMID:35531992|PMID:35619721|PMID:849647|PMID:8613545|PMID:9536098 8915776 Cfi complement factor I gene DOID:0050419 complement factor I deficiency susceptibility ISO RGD:736809 D RGD:7240710 20240306 OMIM 8915776 Cfi complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:15173250|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31249236|PMID:31517156|PMID:32510551|PMID:849647|PMID:8613545|PMID:9536098 8915776 Cfi complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 8915776 Cfi complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17599974|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21445332|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:25796589|PMID:25899302|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:27939104|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29148534|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30225434|PMID:30541482|PMID:30851964|PMID:30890598|PMID:30916388|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32447592|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33238263|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:34748552|PMID:35069568|PMID:35619721|PMID:35914225|PMID:36845135|PMID:37105825|PMID:37466676|PMID:849647|PMID:8613545|PMID:9536098 8915776 Cfi complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736809 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17599974|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21445332|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:25796589|PMID:25899302|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:27939104|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29148534|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30225434|PMID:30541482|PMID:30851964|PMID:30890598|PMID:30916388|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32447592|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33238263|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:34748552|PMID:35069568|PMID:35531992|PMID:35619721|PMID:35914225|PMID:36845135|PMID:37105825|PMID:37466676|PMID:849647|PMID:8613545|PMID:9536098 8915776 Cfi complement factor I gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:736809 D RGD:7240710 20240306 OMIM 8915776 Cfi complement factor I gene DOID:0110025 age related macular degeneration 13 ISO RGD:736809 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 13 | ClinVar Annotator: match by term: Macular degeneration, age-related, 13, susceptibility to PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25899302|PMID:25986072|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:27939104|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30890598|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:35069568|PMID:35531992|PMID:35619721|PMID:849647|PMID:8613545|PMID:9536098 8915776 Cfi complement factor I gene DOID:0110025 age related macular degeneration 13 susceptibility ISO RGD:736809 D RGD:7240710 20240306 OMIM 8915776 Cfi complement factor I gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:736809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:18825487|PMID:25741868|PMID:28492532 8915776 Cfi complement factor I gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736809 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10033900, rs13117504 (human) PMID:23900096|REF_RGD_ID:8662315 8915776 Cfi complement factor I gene DOID:1184 nephrotic syndrome disease_progression ISO RGD:736809 D RGD:9068941 20210319 RGD PMID:9745775|REF_RGD_ID:108019049 8915776 Cfi complement factor I gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:18825487|PMID:25741868|PMID:28492532 8915776 Cfi complement factor I gene DOID:2236 congenital afibrinogenemia ISO RGD:736809 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:18374984|PMID:19065647|PMID:19861685|PMID:20016463|PMID:20106822|PMID:20301541|PMID:22710145|PMID:23421077|PMID:23431077|PMID:24033266|PMID:24036952|PMID:25741868|PMID:25988862|PMID:26826462|PMID:27091480|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31231365|PMID:849647|PMID:8613545|PMID:9536098 8915776 Cfi complement factor I gene DOID:2236 congenital afibrinogenemia ISO RGD:736809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17914026|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25988862|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27091480|PMID:27268256|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098 8915776 Cfi complement factor I gene DOID:2236 congenital afibrinogenemia ISO RGD:736809 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17914026|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25899302|PMID:25988862|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27091480|PMID:27268256|PMID:27939104|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:30890598|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:35619721|PMID:849647|PMID:8613545|PMID:9536098 8915776 Cfi complement factor I gene DOID:2236 congenital afibrinogenemia ISO RGD:736809 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Factor I deficiency PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17914026|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25899302|PMID:25988862|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27091480|PMID:27268256|PMID:27939104|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:30890598|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:35069568|PMID:35531992|PMID:35619721|PMID:849647|PMID:8613545|PMID:9536098 8915776 Cfi complement factor I gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:732319 D RGD:9068941 20200609 RGD PMID:18202746|REF_RGD_ID:6906892 8915776 Cfi complement factor I gene DOID:2921 glomerulonephritis ISO RGD:732319 D RGD:9068941 20230727 MouseDO 8915776 Cfi complement factor I gene DOID:4448 macular degeneration ISO RGD:736809 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685748|PMID:24036952|PMID:26691988 8915776 Cfi complement factor I gene DOID:4448 macular degeneration ISO RGD:736809 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G119R (human) PMID:23685748|REF_RGD_ID:8662313 8915776 Cfi complement factor I gene DOID:4448 macular degeneration disease_progression ISO RGD:736809 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.110659067T>C (rs10033900) (human) PMID:22815349|REF_RGD_ID:8662321 8915776 Cfi complement factor I gene DOID:4448 macular degeneration no_association ISO RGD:736809 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.345G>A (rs2285714) (human) PMID:23900096|REF_RGD_ID:8662315 8915776 Cfi complement factor I gene DOID:557 kidney disease ISO RGD:736809 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 8915776 Cfi complement factor I gene DOID:630 genetic disease ISO RGD:736809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8915776 Cfi complement factor I gene DOID:784 chronic kidney disease ISO RGD:736809 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:17084897|PMID:20301541|PMID:25741868|PMID:28492532 8915776 Cfi complement factor I gene DOID:8893 psoriasis severity ISO RGD:736809 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2973157|REF_RGD_ID:8662318 8915776 Cfi complement factor I gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:736809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:25741868|PMID:28492532 8915776 Cfi complement factor I gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:620429 D RGD:9068941 20200609 RGD mRNA:increased expression:spiral organ of cochlea, sensory epithelium PMID:23727008|REF_RGD_ID:8662317 8915793 Cdh16 cadherin 16 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1323200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8915793 Cdh16 cadherin 16 gene DOID:0110255 cataract 5 multiple types ISO RGD:1323200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8915793 Cdh16 cadherin 16 gene DOID:1781 thyroid cancer ISO RGD:1323200 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:Thyroid PMID:22028439|REF_RGD_ID:13792552 8915793 Cdh16 cadherin 16 gene DOID:630 genetic disease ISO RGD:1323200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915836 Dimt1 DIM1 rRNA methyltransferase and ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1603655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915836 Dimt1 DIM1 rRNA methyltransferase and ribosome maturation factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8915853 Mcub mitochondrial calcium uniporter dominant negative subunit beta gene DOID:630 genetic disease ISO RGD:1602886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915865 Hinfp histone H4 transcription factor gene DOID:0060017 CD3epsilon deficiency ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8915865 Hinfp histone H4 transcription factor gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8915865 Hinfp histone H4 transcription factor gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 8915865 Hinfp histone H4 transcription factor gene DOID:0080690 RASopathy ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 8915865 Hinfp histone H4 transcription factor gene DOID:0110651 long QT syndrome 10 ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8915865 Hinfp histone H4 transcription factor gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 8915865 Hinfp histone H4 transcription factor gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8915865 Hinfp histone H4 transcription factor gene DOID:0111971 immunodeficiency 18 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8915865 Hinfp histone H4 transcription factor gene DOID:0111972 immunodeficiency 19 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8915865 Hinfp histone H4 transcription factor gene DOID:0111973 immunodeficiency 17 ISO RGD:1603667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8915865 Hinfp histone H4 transcription factor gene DOID:5419 schizophrenia ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8915865 Hinfp histone H4 transcription factor gene DOID:630 genetic disease ISO RGD:1603667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915865 Hinfp histone H4 transcription factor gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8915865 Hinfp histone H4 transcription factor gene DOID:9007661 Dwarfism ISO RGD:1603667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8915903 Argfx arginine-fifty homeobox gene DOID:630 genetic disease ISO RGD:1605759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915903 Argfx arginine-fifty homeobox gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1605759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8915903 Argfx arginine-fifty homeobox gene DOID:9270 alkaptonuria ISO RGD:1605759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8915912 Slc9a8 solute carrier family 9 member A8 gene DOID:1307 dementia ISO RGD:1317829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19234771 8915912 Slc9a8 solute carrier family 9 member A8 gene DOID:630 genetic disease ISO RGD:1317829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915953 Tom1 target of myb1 membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1317553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8915953 Tom1 target of myb1 membrane trafficking protein gene DOID:9001304 Immunodeficiency 85 ISO RGD:1317553 D RGD:7240710 20210908 OMIM 8915953 Tom1 target of myb1 membrane trafficking protein gene DOID:9001304 Immunodeficiency 85 ISO RGD:1317553 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Immunodeficiency 85 and autoimmunity PMID:25741868|PMID:31263572 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1345059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 PMID:17576681|PMID:20625056|PMID:23150612|PMID:25741868|PMID:28492532|PMID:28714225|PMID:32244552|PMID:9536098 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:0110415 retinitis pigmentosa 2 ISO RGD:1345059 D RGD:7240710 20180130 OMIM 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:0110415 retinitis pigmentosa 2 ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 2 PMID:10053026|PMID:10090907|PMID:10520237|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11462235|PMID:11826029|PMID:11992260|PMID:12037013|PMID:12657579|PMID:15032968|PMID:16199547|PMID:16472755|PMID:17093403|PMID:17576681|PMID:17724181|PMID:18376416|PMID:20021257|PMID:20106869|PMID:20625056|PMID:20669900|PMID:20729296|PMID:21738648|PMID:22072390|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:24940031|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31736247|PMID:32244552|PMID:33546218|PMID:34008892|PMID:34906488|PMID:9536098|PMID:9697692 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345059 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:10584 retinitis pigmentosa ISO RGD:1345059 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10053026|PMID:10090907|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11992260|PMID:12657579|PMID:15032968|PMID:17724181|PMID:20021257|PMID:20625056|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:29847639|PMID:30718709|PMID:31456290|PMID:9697692 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:10584 retinitis pigmentosa ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10053026|PMID:10090907|PMID:10520237|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11826029|PMID:11992260|PMID:12657579|PMID:15032968|PMID:17093403|PMID:17724181|PMID:20021257|PMID:20625056|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:29847639|PMID:30718709|PMID:31456290|PMID:9697692 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:10584 retinitis pigmentosa ISO RGD:1345059 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10053026|PMID:10090907|PMID:10520237|PMID:10862093|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11826029|PMID:11992260|PMID:12657579|PMID:15032968|PMID:17093403|PMID:17724181|PMID:20021257|PMID:20625056|PMID:22334370|PMID:23150612|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:29847639|PMID:30718709|PMID:31456290|PMID:36909829|PMID:9697692 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:11612 polycystic ovary syndrome ISO RGD:1345059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:12849 autistic disorder ISO RGD:1345059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:14791 Leber congenital amaurosis ISO RGD:1345059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:17576681|PMID:28492532|PMID:28714225|PMID:9536098 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:630 genetic disease ISO RGD:1345059 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:8501 fundus dystrophy ISO RGD:1345059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10053026|PMID:10090907|PMID:10520237|PMID:10937588|PMID:10942419|PMID:11262649|PMID:11826029|PMID:11992260|PMID:12657579|PMID:15032968|PMID:16199547|PMID:16472755|PMID:17093403|PMID:18376416|PMID:18552978|PMID:20021257|PMID:20625056|PMID:20669900|PMID:21738648|PMID:22072390|PMID:23150612|PMID:24940031|PMID:25097241|PMID:25133751|PMID:25356976|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28209709|PMID:28492532|PMID:30718709|PMID:31456290|PMID:32244552|PMID:32875684|PMID:9697692 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1345059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 8915981 Rp2 RP2 activator of ARL3 GTPase gene DOID:9008296 Eye Abnormalities ISO RGD:1345059 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 8915989 Stambp STAM binding protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1606575 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8915989 Stambp STAM binding protein gene DOID:10907 microcephaly ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 8915989 Stambp STAM binding protein gene DOID:1826 epilepsy ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 8915989 Stambp STAM binding protein gene DOID:543 dystonia ISO RGD:1606575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8915989 Stambp STAM binding protein gene DOID:630 genetic disease ISO RGD:1606575 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8915989 Stambp STAM binding protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1606575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8915989 Stambp STAM binding protein gene DOID:9004046 Microcephaly-Capillary Malformation Syndrome ISO RGD:1606575 D RGD:7240710 20180130 OMIM 8915989 Stambp STAM binding protein gene DOID:9004046 Microcephaly-Capillary Malformation Syndrome ISO RGD:1606575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition PMID:18414213|PMID:21271646|PMID:21815250|PMID:23542699|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29907875 8915989 Stambp STAM binding protein gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 8915989 Stambp STAM binding protein gene DOID:9008086 Developmental Disabilities ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 8915989 Stambp STAM binding protein gene DOID:936 brain disease ISO RGD:1606575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23542699 8916014 Spdye1 speedy/RINGO cell cycle regulator family member E1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8916014 Spdye1 speedy/RINGO cell cycle regulator family member E1 gene DOID:630 genetic disease ISO RGD:1345167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916024 Psmd9 proteasome 26S subunit, non-ATPase 9 gene DOID:630 genetic disease ISO RGD:737461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916038 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:23380860|PMID:24033266|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30096381|PMID:30303587|PMID:30718709 8916038 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome ISO RGD:1604645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:9760205 8916038 Ush1c USH1 protein network component harmonin gene DOID:0050439 Usher syndrome treatment ISO RGD:1604645 D RGD:9068941 20200609 RGD PMID:23380860|REF_RGD_ID:8695937 8916038 Ush1c USH1 protein network component harmonin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709 8916038 Ush1c USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISO RGD:1604645 D RGD:7240710 20180130 OMIM 8916038 Ush1c USH1 protein network component harmonin gene DOID:0110473 autosomal recessive nonsyndromic deafness 18A ISO RGD:1604645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:24875298|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27848944|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:31858762|PMID:32747562|PMID:33576794|PMID:33724713|PMID:9760205 8916038 Ush1c USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 ISO RGD:1604645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:33095980|PMID:9760205 8916038 Ush1c USH1 protein network component harmonin gene DOID:0110826 Usher syndrome type 1 onset ISO RGD:1604645 D RGD:9068941 20200609 RGD DNA:deletion:exon:c.1220delG(human) PMID:23251578|REF_RGD_ID:8695919 8916038 Ush1c USH1 protein network component harmonin gene DOID:0110827 Usher syndrome type 2 ISO RGD:1604645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:10973247|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386|PMID:32531858 8916038 Ush1c USH1 protein network component harmonin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 8916038 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:7240710 20180130 OMIM 8916038 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1C PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:19297620|PMID:20095043|PMID:20142502|PMID:20146813|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25262649|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32467589|PMID:9536098|PMID:9760205 8916038 Ush1c USH1 protein network component harmonin gene DOID:0110830 Usher syndrome type 1C ISO RGD:1604645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1C PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:19297620|PMID:20095043|PMID:20142502|PMID:20146813|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25262649|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29490346|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32036094|PMID:32467589|PMID:32531858|PMID:33095980|PMID:33781268|PMID:34148116|PMID:9536098|PMID:9760205 8916038 Ush1c USH1 protein network component harmonin gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1604645 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8916038 Ush1c USH1 protein network component harmonin gene DOID:10003 sensorineural hearing loss ISO RGD:1553848 D RGD:9068941 20200609 RGD PMID:20211154|REF_RGD_ID:8695932 8916038 Ush1c USH1 protein network component harmonin gene DOID:10584 retinitis pigmentosa ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:23251578|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:29490346|PMID:30303587|PMID:30718709 8916038 Ush1c USH1 protein network component harmonin gene DOID:1059 intellectual disability ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8916038 Ush1c USH1 protein network component harmonin gene DOID:630 genetic disease ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532 8916038 Ush1c USH1 protein network component harmonin gene DOID:8501 fundus dystrophy ISO RGD:1604645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27208204|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709 8916038 Ush1c USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25560255|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:30096381|PMID:30303587|PMID:30718709 8916038 Ush1c USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25468891|PMID:25560255|PMID:25741868|PMID:26969326|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709 8916038 Ush1c USH1 protein network component harmonin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1604645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:9760205 8916038 Ush1c USH1 protein network component harmonin gene DOID:9004538 Hearing Loss ISO RGD:1604645 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:10973247|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:23967202|PMID:24033266|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30311386|PMID:32036094|PMID:32531858|PMID:34148116 8916038 Ush1c USH1 protein network component harmonin gene DOID:9005581 Autosomal Recessive Nonsyndromic Deafness 18 ISO RGD:1604645 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 18 PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:24875298|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27848944|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:31858762|PMID:32747562|PMID:33576794|PMID:33724713|PMID:9760205 8916038 Ush1c USH1 protein network component harmonin gene DOID:9849 Meniere's disease ISO RGD:1604645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:12136232|PMID:16963483|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:29739340 8916076 LOC102012303 NADH-cytochrome b5 reductase 3 gene DOID:0060076 estrogen-receptor negative breast cancer disease_progression ISO RGD:731731 D RGD:9068941 20200609 RGD PMID:26351264|REF_RGD_ID:11040536 8916076 LOC102012303 NADH-cytochrome b5 reductase 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:731731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 8916076 LOC102012303 NADH-cytochrome b5 reductase 3 gene DOID:1059 intellectual disability ISO RGD:731731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8916076 LOC102012303 NADH-cytochrome b5 reductase 3 gene DOID:10783 methemoglobinemia ISO RGD:731731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469290 8916076 LOC102012303 NADH-cytochrome b5 reductase 3 gene DOID:10783 methemoglobinemia ISO RGD:731731 D RGD:9068941 20200609 RGD DNA:point mutations, splice-site mutation: ;535G>A, 757G>A, 379A>G, IVS4-2A>G PMID:11295830|REF_RGD_ID:1599771 8916076 LOC102012303 NADH-cytochrome b5 reductase 3 gene DOID:1612 breast cancer susceptibility ISO RGD:731731 D RGD:9068941 20200609 RGD DNA:polymporhism:(rs8190370)(human) PMID:25225034|REF_RGD_ID:11040537 8916076 LOC102012303 NADH-cytochrome b5 reductase 3 gene DOID:630 genetic disease ISO RGD:731731 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18318771|PMID:21349748|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9886302 8916076 LOC102012303 NADH-cytochrome b5 reductase 3 gene DOID:9000781 Cyanosis ISO RGD:731731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469290 8916076 LOC102012303 NADH-cytochrome b5 reductase 3 gene DOID:9002339 NADH Cytochrome B5 Reductase Deficiency ISO RGD:731731 D RGD:7240710 20180130 OMIM 8916076 LOC102012303 NADH-cytochrome b5 reductase 3 gene DOID:9002339 NADH Cytochrome B5 Reductase Deficiency ISO RGD:731731 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: CYB5R3-related condition | ClinVar Annotator: match by term: Hereditary methemoglobinemia | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, TYPE II | ClinVar Annotator: match by term: Methemoglobinemia, type I | ClinVar Annotator: match by term: NADH diaphorase deficiency | ClinVar Annotator: match by term: NADH methemoglobin reductase deficiency PMID:10807796|PMID:10874300|PMID:11159544|PMID:11295830|PMID:12393396|PMID:12756024|PMID:1400360|PMID:15921385|PMID:15953014|PMID:16199547|PMID:16310381|PMID:16469290|PMID:16748235|PMID:1707593|PMID:18318771|PMID:1898726|PMID:19062529|PMID:2107882|PMID:21349748|PMID:22627575|PMID:23866629|PMID:24033266|PMID:24266649|PMID:25058800|PMID:25741868|PMID:27879543|PMID:28492532|PMID:29482478|PMID:3680497|PMID:4063522|PMID:7668255|PMID:7718898|PMID:8119939|PMID:8427971|PMID:9266404|PMID:9695975 8916076 LOC102012303 NADH-cytochrome b5 reductase 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:731731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8916092 Irs4 insulin receptor substrate 4 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1352224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8916092 Irs4 insulin receptor substrate 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8916092 Irs4 insulin receptor substrate 4 gene DOID:0111835 congenital nongoitrous hypothyroidism 9 ISO RGD:1352224 D RGD:7240710 20191002 OMIM 8916092 Irs4 insulin receptor substrate 4 gene DOID:0111835 congenital nongoitrous hypothyroidism 9 ISO RGD:1352224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 PMID:25741868|PMID:30061370 8916092 Irs4 insulin receptor substrate 4 gene DOID:12849 autistic disorder ISO RGD:1352224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8916092 Irs4 insulin receptor substrate 4 gene DOID:1324 lung cancer treatment ISO RGD:1352224 D RGD:9068941 20220210 RGD human cells in mouse model PMID:33894221|REF_RGD_ID:151347872 8916092 Irs4 insulin receptor substrate 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352224 D RGD:9068941 20220210 RGD protein:increased expression:lung (human) PMID:33894221|REF_RGD_ID:151347872 8916092 Irs4 insulin receptor substrate 4 gene DOID:630 genetic disease ISO RGD:1352224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916092 Irs4 insulin receptor substrate 4 gene DOID:9256 colorectal cancer ISO RGD:1352224 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:29353348|REF_RGD_ID:151347867 8916092 Irs4 insulin receptor substrate 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1352224 D RGD:9068941 20220210 RGD protein:increased expression:colorectal mucosa (human) PMID:29185229|REF_RGD_ID:151347868 8916092 Irs4 insulin receptor substrate 4 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1352224 D RGD:9068941 20220210 RGD protein:increased expression:colorectum (human) PMID:30410539|REF_RGD_ID:151347869 8916098 Nek11 NIMA related kinase 11 gene DOID:630 genetic disease ISO RGD:1318782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916098 Nek11 NIMA related kinase 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8916098 Nek11 NIMA related kinase 11 gene DOID:9270 alkaptonuria ISO RGD:1318782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8916132 Tox4 TOX high mobility group box family member 4 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1350277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 8916132 Tox4 TOX high mobility group box family member 4 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1350277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8916132 Tox4 TOX high mobility group box family member 4 gene DOID:630 genetic disease ISO RGD:1350277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916132 Tox4 TOX high mobility group box family member 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350277 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8916163 Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 gene DOID:12858 Huntington's disease ISO RGD:1557918 D RGD:9068941 20220825 MouseDO OMIM:143100 8916163 Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 gene DOID:630 genetic disease ISO RGD:1351838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916185 Itgal integrin subunit alpha L gene DOID:0050589 inflammatory bowel disease ISO RGD:1352170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 8916185 Itgal integrin subunit alpha L gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1352170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 8916185 Itgal integrin subunit alpha L gene DOID:10952 nephritis treatment ISO RGD:631424 D RGD:9068941 20200609 RGD PMID:8773354|REF_RGD_ID:8547716 8916185 Itgal integrin subunit alpha L gene DOID:13241 Behcet's disease ISO RGD:1352170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8712863 8916185 Itgal integrin subunit alpha L gene DOID:2661 myoepithelioma ISO RGD:1352170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8916185 Itgal integrin subunit alpha L gene DOID:630 genetic disease ISO RGD:1352170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916185 Itgal integrin subunit alpha L gene DOID:9001472 Nasal Polyps ISO RGD:1352170 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11593541|REF_RGD_ID:8547687 8916185 Itgal integrin subunit alpha L gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8916185 Itgal integrin subunit alpha L gene DOID:9005372 Inflammation ISO RGD:1550382 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome PMID:15037117|REF_RGD_ID:8547696 8916224 Mrps30 mitochondrial ribosomal protein S30 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8916224 Mrps30 mitochondrial ribosomal protein S30 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8916224 Mrps30 mitochondrial ribosomal protein S30 gene DOID:630 genetic disease ISO RGD:1320179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916224 Mrps30 mitochondrial ribosomal protein S30 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8916232 Pan3 poly(A) specific ribonuclease subunit PAN3 gene DOID:630 genetic disease ISO RGD:1603874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916256 Eda ectodysplasin A gene DOID:0050591 tooth agenesis ISO RGD:1348155 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypodontia PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532 8916256 Eda ectodysplasin A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8916256 Eda ectodysplasin A gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1348155 D RGD:7240710 20180130 OMIM 8916256 Eda ectodysplasin A gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1348155 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:10469321|PMID:10951256|PMID:11279189|PMID:11295832|PMID:11309369|PMID:11378824|PMID:11416205|PMID:12930312|PMID:12947561|PMID:12949972|PMID:14656435|PMID:15461765|PMID:15663448|PMID:16199547|PMID:17066260|PMID:17576681|PMID:17970812|PMID:18076698|PMID:18231121|PMID:18384562|PMID:18386312|PMID:18386315|PMID:18427821|PMID:18451855|PMID:18510547|PMID:18545687|PMID:18657636|PMID:18666859|PMID:18688569|PMID:18821982|PMID:19278982|PMID:19438931|PMID:19504606|PMID:19533796|PMID:19592680|PMID:19623212|PMID:19921643|PMID:19960895|PMID:20077893|PMID:20236127|PMID:20374512|PMID:20486090|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22382802|PMID:22428923|PMID:22633615|PMID:22875504|PMID:23293949|PMID:23553579|PMID:23687000|PMID:23744313|PMID:23926003|PMID:23989902|PMID:23991204|PMID:24033266|PMID:24279917|PMID:24312213|PMID:24330993|PMID:24487376|PMID:24631698|PMID:24648697|PMID:24689965|PMID:24715423|PMID:24724966|PMID:25333067|PMID:25626993|PMID:25640679|PMID:25741868|PMID:25846883|PMID:26273176|PMID:26345974|PMID:26411740|PMID:26502894|PMID:26634545|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27264909|PMID:27305980|PMID:27538153|PMID:27657131|PMID:28045201|PMID:28492532|PMID:29444360|PMID:29676859|PMID:30088137|PMID:30117778|PMID:31129666|PMID:31306530|PMID:31489414|PMID:31652981|PMID:31796081|PMID:31852928|PMID:31924237|PMID:33205897|PMID:33502802|PMID:33943035|PMID:34573371|PMID:34863015|PMID:34906502|PMID:35023123|PMID:36071541|PMID:36294409|PMID:8696334|PMID:9507389|PMID:9536098|PMID:9630076|PMID:9683615|PMID:9736768|PMID:9856856 8916256 Eda ectodysplasin A gene DOID:10754 otitis media ISO RGD:1557590 D RGD:9068941 20200609 RGD PMID:31028034|REF_RGD_ID:14398763 8916256 Eda ectodysplasin A gene DOID:12849 autistic disorder ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8916256 Eda ectodysplasin A gene DOID:13714 anodontia ISO RGD:1348155 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Partial congenital absence of teeth PMID:19278982|PMID:19623212|PMID:24033266|PMID:24487376|PMID:25741868|PMID:26753551|PMID:27144394|PMID:28492532|PMID:33205897|PMID:33943035|PMID:36294409 8916256 Eda ectodysplasin A gene DOID:14693 Clouston syndrome ISO RGD:12147212 D RGD:9068941 20230525 OMIA Anhidrotic ectodermal dysplasia, EDA-related PMID:15500478|PMID:15946744|PMID:16151697|PMID:17924345|PMID:19533784|PMID:20078794|PMID:21730053|PMID:23441037|PMID:27449516|PMID:30276836|PMID:30397018|PMID:31122682|PMID:32482291|PMID:34076266|PMID:3710892|PMID:37191329|PMID:4055508|PMID:5462764|PMID:579352|PMID:6746381|PMID:9419891 8916256 Eda ectodysplasin A gene DOID:14737 craniofrontonasal syndrome ISO RGD:1348155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941886 8916256 Eda ectodysplasin A gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1348155 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:10951256|PMID:11279189|PMID:11295832|PMID:11309369|PMID:11378824|PMID:11416205|PMID:12930312|PMID:12949972|PMID:14656435|PMID:15461765|PMID:15663448|PMID:16199547|PMID:17066260|PMID:17576681|PMID:17970812|PMID:18076698|PMID:18231121|PMID:18384562|PMID:18386312|PMID:18386315|PMID:18427821|PMID:18451855|PMID:18510547|PMID:18545687|PMID:18657636|PMID:18666859|PMID:18821982|PMID:19278982|PMID:19533796|PMID:19592680|PMID:19623212|PMID:19921643|PMID:20236127|PMID:20374512|PMID:20486090|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22382802|PMID:22428923|PMID:22633615|PMID:22875504|PMID:23293949|PMID:23553579|PMID:23744313|PMID:23926003|PMID:23989902|PMID:23991204|PMID:24033266|PMID:24279917|PMID:24312213|PMID:24330993|PMID:24487376|PMID:24648697|PMID:24689965|PMID:24724966|PMID:25333067|PMID:25626993|PMID:25741868|PMID:26273176|PMID:26345974|PMID:26634545|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27305980|PMID:27538153|PMID:27657131|PMID:28045201|PMID:28492532|PMID:29444360|PMID:30117778|PMID:31306530|PMID:31796081|PMID:31924237|PMID:8696334|PMID:9507389|PMID:9536098|PMID:9630076|PMID:9683615|PMID:9736768|PMID:9856856 8916256 Eda ectodysplasin A gene DOID:1909 melanoma ISO RGD:1348155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8916256 Eda ectodysplasin A gene DOID:2121 ectodermal dysplasia ISO RGD:1348155 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Anhidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia PMID:11279189|PMID:11416205|PMID:15663448|PMID:18231121|PMID:19278982|PMID:19921643|PMID:20236127|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22875504|PMID:23553579|PMID:24033266|PMID:24279917|PMID:24312213|PMID:24487376|PMID:24715423|PMID:24724966|PMID:25741868|PMID:25846883|PMID:26411740|PMID:26753551|PMID:27144394|PMID:27305980|PMID:28492532|PMID:31129666|PMID:31796081|PMID:33205897|PMID:33943035|PMID:34573371|PMID:36071541|PMID:36294409|PMID:9736768 8916256 Eda ectodysplasin A gene DOID:630 genetic disease ISO RGD:1348155 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12947561|PMID:19623212|PMID:22032522|PMID:24033266|PMID:25741868|PMID:28492532 8916256 Eda ectodysplasin A gene DOID:9000986 Selective Tooth Agenesis, X-Linked, 1 ISO RGD:1348155 D RGD:7240710 20180130 OMIM 8916256 Eda ectodysplasin A gene DOID:9000986 Selective Tooth Agenesis, X-Linked, 1 ISO RGD:1348155 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HYPODONTIA/OLIGODONTIA, X-LINKED, 1 | ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1 PMID:16583127|PMID:17256800|PMID:18545687|PMID:18657636|PMID:19278982|PMID:19623212|PMID:24033266|PMID:24312213|PMID:25741868|PMID:26753551|PMID:27144394|PMID:27305980|PMID:27657131|PMID:28492532|PMID:8696334|PMID:9683615 8916256 Eda ectodysplasin A gene DOID:9002747 Selective Tooth Agenesis 2 ISO RGD:1348155 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 2 PMID:25741868|PMID:30526585 8916280 Blcap BLCAP apoptosis inducing factor gene DOID:2234 focal epilepsy ISO RGD:1347383 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8916280 Blcap BLCAP apoptosis inducing factor gene DOID:630 genetic disease ISO RGD:1347383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916280 Blcap BLCAP apoptosis inducing factor gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1347383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 8916289 App amyloid beta precursor protein gene DOID:0050700 cardiomyopathy ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29068127 8916289 App amyloid beta precursor protein gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:2139 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:28885995|REF_RGD_ID:13782056 8916289 App amyloid beta precursor protein gene DOID:0070027 CST3-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis PMID:25604855|PMID:25741868|PMID:28492532 8916289 App amyloid beta precursor protein gene DOID:0070028 APP-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:7240710 20180130 OMIM 8916289 App amyloid beta precursor protein gene DOID:0070028 APP-related cerebral amyloid angiopathy ISO RGD:736021 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related PMID:10441572|PMID:10631141|PMID:10821838|PMID:11004129|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11978821|PMID:12552037|PMID:12654973|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1415269|PMID:14623725|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15776278|PMID:16033913|PMID:16178030|PMID:1634237|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:1679289|PMID:16931535|PMID:18413473|PMID:19061884|PMID:1908231|PMID:19225789|PMID:1925564|PMID:19281847|PMID:19363265|PMID:20228223|PMID:20301414|PMID:20523046|PMID:20697050|PMID:2111584|PMID:21210284|PMID:22503161|PMID:22514144|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24524897|PMID:24650794|PMID:24878480|PMID:25138979|PMID:25604855|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27838006|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:31937505|PMID:32087291|PMID:32908482|PMID:37051054|PMID:7611715|PMID:8191290|PMID:8290965|PMID:8410047|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8610157|PMID:8649577|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9754958|PMID:9848098 8916289 App amyloid beta precursor protein gene DOID:0080348 Alzheimer's disease 1 ISO RGD:736021 D RGD:7240710 20181017 OMIM 8916289 App amyloid beta precursor protein gene DOID:0080348 Alzheimer's disease 1 ISO RGD:736021 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: APP POLYMORPHISM | ClinVar Annotator: match by term: APP-related condition | ClinVar Annotator: match by term: Alzheimer disease type 1 PMID:10097173|PMID:10441572|PMID:10611368|PMID:10631141|PMID:10821838|PMID:10867787|PMID:11004129|PMID:11063718|PMID:11311152|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11910111|PMID:11978821|PMID:12034808|PMID:12552037|PMID:12707272|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1415269|PMID:14623725|PMID:14769392|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15668448|PMID:15776278|PMID:1584464|PMID:16033913|PMID:1634237|PMID:16505331|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:16931535|PMID:17170111|PMID:17493013|PMID:18187157|PMID:18234110|PMID:18413473|PMID:18437002|PMID:1908231|PMID:1925564|PMID:19281847|PMID:19363265|PMID:1944558|PMID:19950418|PMID:20005601|PMID:20063202|PMID:20301414|PMID:20452980|PMID:20452985|PMID:20523046|PMID:20634584|PMID:21210284|PMID:21777674|PMID:21980910|PMID:22503161|PMID:22702962|PMID:23143229|PMID:23224319|PMID:23380992|PMID:23515184|PMID:24033266|PMID:24390130|PMID:24524897|PMID:24650794|PMID:24677022|PMID:24694184|PMID:24880964|PMID:24949887|PMID:25053581|PMID:25137638|PMID:25138979|PMID:25703165|PMID:25741868|PMID:25948718|PMID:26402770|PMID:26444762|PMID:26467025|PMID:26803359|PMID:26888304|PMID:27777022|PMID:27838006|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29770843|PMID:29859640|PMID:30045758|PMID:30279455|PMID:31011484|PMID:32087291|PMID:32908482|PMID:33445953|PMID:7611715|PMID:7686976|PMID:7806491|PMID:7845465|PMID:8154870|PMID:8191290|PMID:8290965|PMID:8410047|PMID:8461968|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8644866|PMID:8649577|PMID:8650548|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9754958|PMID:9848098 8916289 App amyloid beta precursor protein gene DOID:0081292 traumatic brain injury treatment ISO RGD:736021 D RGD:9068941 20200609 RGD PMID:29320530|REF_RGD_ID:13782048 8916289 App amyloid beta precursor protein gene DOID:0081420 familial focal epilepsy with variable foci ISO RGD:736021 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial focal epilepsy with variable foci PMID:25741868 8916289 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease ISO RGD:736021 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, early onset | ClinVar Annotator: match by term: Alzheimer disease, protection against | ClinVar Annotator: match by term: Alzheimer's disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease PMID:10441572|PMID:10611368|PMID:10631141|PMID:10821838|PMID:11004129|PMID:11063718|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11487570|PMID:11528419|PMID:11568920|PMID:11735772|PMID:11910111|PMID:11978821|PMID:12034808|PMID:12552037|PMID:12654973|PMID:12707272|PMID:1303172|PMID:1303239|PMID:1303275|PMID:1307241|PMID:1415269|PMID:14623725|PMID:14769392|PMID:1520398|PMID:15365148|PMID:15488330|PMID:15502844|PMID:15776278|PMID:16033913|PMID:16199547|PMID:1634237|PMID:16369530|PMID:1671712|PMID:1674311|PMID:1678057|PMID:1678058|PMID:1679288|PMID:1679289|PMID:16921174|PMID:16931535|PMID:17576681|PMID:17873282|PMID:18187157|PMID:18234110|PMID:18413473|PMID:19061884|PMID:1908231|PMID:1925564|PMID:19281847|PMID:19286555|PMID:19363265|PMID:20228223|PMID:20301414|PMID:20452985|PMID:20523046|PMID:2111584|PMID:21210284|PMID:22312439|PMID:22491860|PMID:22503161|PMID:22801501|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24524897|PMID:24650794|PMID:24680827|PMID:24691562|PMID:24878480|PMID:25104557|PMID:25138979|PMID:25174650|PMID:25604855|PMID:25617006|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26242991|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27312774|PMID:27838006|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:31719132|PMID:31836585|PMID:31937505|PMID:32087291|PMID:32345996|PMID:32908482|PMID:32917274|PMID:33268848|PMID:7588622|PMID:7611715|PMID:7633445|PMID:7686976|PMID:7806491|PMID:7845465|PMID:8191290|PMID:8290965|PMID:8291572|PMID:8410047|PMID:8499923|PMID:8513318|PMID:8577393|PMID:8610157|PMID:8649577|PMID:8863158|PMID:8886002|PMID:9328472|PMID:9536098|PMID:9754958|PMID:9848098 8916289 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736021 D RGD:9068941 20200609 RGD PMID:16369530|REF_RGD_ID:1599199 8916289 App amyloid beta precursor protein gene DOID:10652 Alzheimer's disease treatment ISO RGD:2139 D RGD:9068941 20200609 RGD associated with hypertension PMID:29568075|REF_RGD_ID:13782047 8916289 App amyloid beta precursor protein gene DOID:10763 hypertension ISO RGD:2139 D RGD:9068941 20200609 RGD PMID:29713228|REF_RGD_ID:13703136 8916289 App amyloid beta precursor protein gene DOID:10914 amnestic disorder ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12642396 8916289 App amyloid beta precursor protein gene DOID:11758 iron deficiency anemia ISO RGD:2139 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus: PMID:18723004|REF_RGD_ID:2301196 8916289 App amyloid beta precursor protein gene DOID:11832 visual epilepsy ISO RGD:736021 D RGD:9068941 20200609 RGD associated with Alzheimer Disease; PMID:25879152|REF_RGD_ID:10054263 8916289 App amyloid beta precursor protein gene DOID:1289 neurodegenerative disease ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16122394|PMID:23541064 8916289 App amyloid beta precursor protein gene DOID:1307 dementia ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22300406 8916289 App amyloid beta precursor protein gene DOID:14261 fragile X syndrome ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22046307 8916289 App amyloid beta precursor protein gene DOID:1561 cognitive disorder ISO RGD:736021 D RGD:9068941 20200609 RGD PMID:17536186|PMID:19101630|REF_RGD_ID:10054259|REF_RGD_ID:10054262 8916289 App amyloid beta precursor protein gene DOID:1561 cognitive disorder ISO RGD:736021 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:17406652|PMID:17600377|PMID:21350020|PMID:24189446|PMID:26945731|PMID:32522471 8916289 App amyloid beta precursor protein gene DOID:2030 anxiety disorder ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19664757 8916289 App amyloid beta precursor protein gene DOID:319 spinal cord disease ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11800653 8916289 App amyloid beta precursor protein gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2139 D RGD:9068941 20200609 RGD PMID:28963051|REF_RGD_ID:13782054 8916289 App amyloid beta precursor protein gene DOID:630 genetic disease ISO RGD:736021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8916289 App amyloid beta precursor protein gene DOID:824 periodontitis ISO RGD:736021 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:28285126|REF_RGD_ID:13801025 8916289 App amyloid beta precursor protein gene DOID:8725 vascular dementia ISO RGD:736021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:22312439|PMID:25104557|PMID:25174650|PMID:25604855|PMID:26242991|PMID:26467025|PMID:27312774|PMID:28492532|PMID:33268848 8916289 App amyloid beta precursor protein gene DOID:8927 learning disability ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16474004|PMID:18533140|PMID:20816828|PMID:22484447|PMID:25213453|PMID:26420483|PMID:27306655|PMID:29729307|PMID:35247505 8916289 App amyloid beta precursor protein gene DOID:9000412 Presenile and Senile Dementia ISO RGD:736021 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:10821838|PMID:11004129|PMID:11311152|PMID:11409420|PMID:11441013|PMID:11528419|PMID:12654973|PMID:1303239|PMID:1303275|PMID:1415269|PMID:15365148|PMID:15488330|PMID:15502844|PMID:1679289|PMID:18413473|PMID:19061884|PMID:19363265|PMID:20228223|PMID:20301414|PMID:2111584|PMID:23143229|PMID:23224319|PMID:23919771|PMID:24033266|PMID:24524897|PMID:24650794|PMID:24878480|PMID:25741868|PMID:25948718|PMID:26104569|PMID:26402770|PMID:26467025|PMID:26803359|PMID:27000221|PMID:27858710|PMID:28304299|PMID:28350801|PMID:28492532|PMID:29263818|PMID:29459625|PMID:29859640|PMID:30279455|PMID:30868685|PMID:31011484|PMID:31836585|PMID:32087291|PMID:32908482|PMID:8499923|PMID:8610157|PMID:9754958|PMID:9848098 8916289 App amyloid beta precursor protein gene DOID:9000998 Brain Injuries ISO RGD:736021 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:16300758|REF_RGD_ID:10054281 8916289 App amyloid beta precursor protein gene DOID:9001020 Eye Manifestations ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:35247505 8916289 App amyloid beta precursor protein gene DOID:9001111 Blast Injuries ISO RGD:2139 D RGD:9068941 20200609 RGD PMID:24224042|REF_RGD_ID:10054251 8916289 App amyloid beta precursor protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8916289 App amyloid beta precursor protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20816828|PMID:25288670 8916289 App amyloid beta precursor protein gene DOID:9002644 Premature Aging ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23129026 8916289 App amyloid beta precursor protein gene DOID:9002720 Splenomegaly ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27117003 8916289 App amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:2139 D RGD:9068941 20200609 RGD associated with Chronic Cerebral Hypoperfusion PMID:28836062|REF_RGD_ID:13782057 8916289 App amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:2139 D RGD:9068941 20200609 RGD associated with Sleep Deprivation PMID:28455102|REF_RGD_ID:13782059 8916289 App amyloid beta precursor protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25288670 8916289 App amyloid beta precursor protein gene DOID:9002955 Nerve Degeneration ISO RGD:736021 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:11784781|PMID:11800653|PMID:12396081|PMID:12963085|PMID:16951259|PMID:17600377|PMID:19631677|PMID:20111991|PMID:20359466|PMID:23726866|PMID:23827522|PMID:33971107 8916289 App amyloid beta precursor protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8916289 App amyloid beta precursor protein gene DOID:9004657 Weight Gain ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8916289 App amyloid beta precursor protein gene DOID:9005181 Multi-Infarct Dementia ISO RGD:736021 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid: PMID:1677459|REF_RGD_ID:10054257 8916289 App amyloid beta precursor protein gene DOID:9005246 Paralysis ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:16122394|PMID:18762355|PMID:21706413|PMID:22952840|PMID:28915354|PMID:33290254|PMID:34902447 8916289 App amyloid beta precursor protein gene DOID:9005393 Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy ISO RGD:736021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy PMID:16369530|PMID:19047566 8916289 App amyloid beta precursor protein gene DOID:9005749 Necrosis ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21839817 8916289 App amyloid beta precursor protein gene DOID:9005832 Amyloid Plaques ISO RGD:736021 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:19818510|PMID:29729307|PMID:31939705|PMID:33096116 8916289 App amyloid beta precursor protein gene DOID:9006118 Amyloid Angiopathy ISO RGD:736021 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:31939705 8916289 App amyloid beta precursor protein gene DOID:9006205 Animal Disease Models ISO RGD:736021 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:12746438|PMID:16651627|PMID:25881725|PMID:27567873|PMID:31939705 8916289 App amyloid beta precursor protein gene DOID:9006478 Amyloid Neuropathies ISO RGD:736021 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 8916289 App amyloid beta precursor protein gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:2139 D RGD:9068941 20200609 RGD PMID:28446186|REF_RGD_ID:13782060 8916289 App amyloid beta precursor protein gene DOID:9007402 Gliosis ISO RGD:736021 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:27567873 8916289 App amyloid beta precursor protein gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2139 D RGD:9068941 20200609 RGD protein:increased expression:cerebral white matter: PMID:11743996|REF_RGD_ID:10054250 8916289 App amyloid beta precursor protein gene DOID:9008023 Memory Disorders ISO RGD:736021 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:15364477|PMID:18191838|PMID:18599028|PMID:19664757|PMID:19770021|PMID:20816828|PMID:22484447|PMID:23827522|PMID:24858312|PMID:25213453|PMID:25881725|PMID:26420483|PMID:26480858|PMID:27306655|PMID:27567873|PMID:28448946|PMID:29729307|PMID:35247505 8916289 App amyloid beta precursor protein gene DOID:9009105 HIV Encephalitis ISO RGD:736021 D RGD:9068941 20200609 RGD PMID:29632166|REF_RGD_ID:13782045 8916289 App amyloid beta precursor protein gene DOID:9120 amyloidosis ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23541064 8916289 App amyloid beta precursor protein gene DOID:9246 cerebral amyloid angiopathy ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21520056 8916289 App amyloid beta precursor protein gene DOID:936 brain disease ISO RGD:736021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11800653 8916289 App amyloid beta precursor protein gene DOID:9970 obesity treatment ISO RGD:736021 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:adipocyte,plasma: PMID:19672057|REF_RGD_ID:10054260 8916318 Stradb STE20 related adaptor beta gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1350818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8916318 Stradb STE20 related adaptor beta gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1350818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8916318 Stradb STE20 related adaptor beta gene DOID:0110983 Joubert syndrome 14 ISO RGD:1350818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:28492532 8916318 Stradb STE20 related adaptor beta gene DOID:630 genetic disease ISO RGD:1350818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916318 Stradb STE20 related adaptor beta gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1350818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8916318 Stradb STE20 related adaptor beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8916318 Stradb STE20 related adaptor beta gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1350818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8916318 Stradb STE20 related adaptor beta gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1350818 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8916341 Cd5l CD5 molecule like gene DOID:1540 parathyroid carcinoma ISO RGD:1318347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8916341 Cd5l CD5 molecule like gene DOID:630 genetic disease ISO RGD:1318347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916341 Cd5l CD5 molecule like gene DOID:684 hepatocellular carcinoma ISO RGD:1318347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8916341 Cd5l CD5 molecule like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8916341 Cd5l CD5 molecule like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8916367 Rras2 RAS related 2 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1321899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 8916367 Rras2 RAS related 2 gene DOID:0112170 Noonan syndrome 12 ISO RGD:1321899 D RGD:7240710 20191030 OMIM 8916367 Rras2 RAS related 2 gene DOID:0112170 Noonan syndrome 12 ISO RGD:1321899 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Noonan syndrome 12 | ClinVar Annotator: match by term: RRAS2-related condition PMID:25741868|PMID:28492532|PMID:31130282|PMID:31130285|PMID:35599849|PMID:8052619 8916367 Rras2 RAS related 2 gene DOID:1059 intellectual disability ISO RGD:1321899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8916367 Rras2 RAS related 2 gene DOID:3490 Noonan syndrome ISO RGD:1321899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Noonan syndrome PMID:25741868|PMID:28492532|PMID:31130282|PMID:31130285|PMID:8052619 8916367 Rras2 RAS related 2 gene DOID:630 genetic disease ISO RGD:1321899 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31130282|PMID:31130285 8916367 Rras2 RAS related 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1321899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147764 8916367 Rras2 RAS related 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:31130282|PMID:31130285|PMID:8052619 8916375 Rint1 RAD50 interactor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8916375 Rint1 RAD50 interactor 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25050558|PMID:25741868|PMID:28492532|PMID:32566746 8916375 Rint1 RAD50 interactor 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25050558|PMID:25741868|PMID:28492532|PMID:31204009|PMID:32566746 8916375 Rint1 RAD50 interactor 1 gene DOID:630 genetic disease ISO RGD:1605055 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32566746 8916375 Rint1 RAD50 interactor 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fulminant hepatic failure PMID:25050558|PMID:25741868|PMID:28492532|PMID:31204009|PMID:32283892|PMID:33099839 8916375 Rint1 RAD50 interactor 1 gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 PMID:16199547|PMID:25741868|PMID:28492532|PMID:31204009|PMID:33471991 8916375 Rint1 RAD50 interactor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605055 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:26928227|PMID:27544226|PMID:28166811|PMID:28492532|PMID:31173646|PMID:31204009|PMID:31567591|PMID:32566746|PMID:33471991|PMID:9536098 8916375 Rint1 RAD50 interactor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:17576681|PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:26928227|PMID:27544226|PMID:28166811|PMID:28492532|PMID:31173646|PMID:31204009|PMID:31567591|PMID:32283892|PMID:32566746|PMID:33099839|PMID:33471991|PMID:9536098 8916375 Rint1 RAD50 interactor 1 gene DOID:9008663 Infantile Liver Failure Syndrome 3 ISO RGD:1605055 D RGD:7240710 20191030 OMIM 8916375 Rint1 RAD50 interactor 1 gene DOID:9008663 Infantile Liver Failure Syndrome 3 ISO RGD:1605055 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 3 PMID:24033266|PMID:25050558|PMID:25741868|PMID:26787654|PMID:27544226|PMID:28492532|PMID:31204009|PMID:32283892|PMID:33099839 8916402 Rnf183 ring finger protein 183 gene DOID:630 genetic disease ISO RGD:1603182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916424 Shcbp1l SHC binding and spindle associated 1 like gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8916424 Shcbp1l SHC binding and spindle associated 1 like gene DOID:10283 prostate cancer ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8916424 Shcbp1l SHC binding and spindle associated 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8916424 Shcbp1l SHC binding and spindle associated 1 like gene DOID:630 genetic disease ISO RGD:1313739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916424 Shcbp1l SHC binding and spindle associated 1 like gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8916424 Shcbp1l SHC binding and spindle associated 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8916438 Sdr42e1 short chain dehydrogenase/reductase family 42E, member 1 gene DOID:630 genetic disease ISO RGD:1601729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916438 Sdr42e1 short chain dehydrogenase/reductase family 42E, member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8916445 Lrfn1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1312309 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8916445 Lrfn1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1312309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916445 Lrfn1 leucine rich repeat and fibronectin type III domain containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8916460 Ubxn8 UBX domain protein 8 gene DOID:630 genetic disease ISO RGD:1603319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916479 Galnt4 polypeptide N-acetylgalactosaminyltransferase 4 gene DOID:630 genetic disease ISO RGD:1345094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916479 Galnt4 polypeptide N-acetylgalactosaminyltransferase 4 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1345094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8916483 Cand1 cullin associated and neddylation dissociated 1 gene DOID:10283 prostate cancer ISO RGD:733696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8916483 Cand1 cullin associated and neddylation dissociated 1 gene DOID:630 genetic disease ISO RGD:733696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916504 Gabra4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:12849 autistic disorder ISO RGD:734147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16080114|PMID:16770606 8916504 Gabra4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:12849 autistic disorder ISO RGD:734147 D RGD:9068941 20200609 RGD PMID:20066485|REF_RGD_ID:6480253 8916504 Gabra4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:12849 autistic disorder ISO RGD:734147 D RGD:9068941 20200609 RGD DNA:SNPs: :rs17599165, rs1912960,rs17599416,rs7660336, rs2280073,rs16859788 (human) PMID:16770606|REF_RGD_ID:6480254 8916504 Gabra4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:630 genetic disease ISO RGD:734147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916504 Gabra4 gamma-aminobutyric acid type A receptor subunit alpha4 gene DOID:9004866 Ataxia ISO RGD:734147 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16091474 8916523 Foxd2 forkhead box D2 gene DOID:630 genetic disease ISO RGD:1312200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916529 Il1rl2 interleukin 1 receptor like 2 gene DOID:0080685 aortic dissection ISO RGD:1353187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 8916529 Il1rl2 interleukin 1 receptor like 2 gene DOID:630 genetic disease ISO RGD:1353187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916529 Il1rl2 interleukin 1 receptor like 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621782 D RGD:9068941 20210514 RGD compared to Wild Type in cardiopulmonary bypass model PMID:32048631|REF_RGD_ID:126925167 8916547 Ankra2 ankyrin repeat family A member 2 gene DOID:630 genetic disease ISO RGD:1347651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916547 Ankra2 ankyrin repeat family A member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8916569 Ldlrad1 low density lipoprotein receptor class A domain containing 1 gene DOID:630 genetic disease ISO RGD:1603477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916597 Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8916597 Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:2717 Bloom syndrome ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8916597 Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:630 genetic disease ISO RGD:1312578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8916597 Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:9009003 Erythropoietic Protoporphyria 2 ISO RGD:1312578 D RGD:7240710 20190315 OMIM 8916597 Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:9009003 Erythropoietic Protoporphyria 2 ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2 PMID:25741868|PMID:28492532|PMID:28874591 8916597 Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit X gene DOID:9256 colorectal cancer ISO RGD:1312578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8916651 Gpr107 G protein-coupled receptor 107 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8916651 Gpr107 G protein-coupled receptor 107 gene DOID:630 genetic disease ISO RGD:1314180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916684 Plch1 phospholipase C eta 1 gene DOID:630 genetic disease ISO RGD:1349228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916684 Plch1 phospholipase C eta 1 gene DOID:9001056 Holoprosencephaly 14 ISO RGD:1349228 D RGD:7240710 20220608 OMIM 8916684 Plch1 phospholipase C eta 1 gene DOID:9001056 Holoprosencephaly 14 ISO RGD:1349228 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 14 PMID:33820834 8916717 Ifrd1 interferon related developmental regulator 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:19409521 8916717 Ifrd1 interferon related developmental regulator 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8916717 Ifrd1 interferon related developmental regulator 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8916717 Ifrd1 interferon related developmental regulator 1 gene DOID:5419 schizophrenia ISO RGD:69163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8916717 Ifrd1 interferon related developmental regulator 1 gene DOID:630 genetic disease ISO RGD:69163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916717 Ifrd1 interferon related developmental regulator 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69163 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8916717 Ifrd1 interferon related developmental regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69163 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8916741 Actl6b actin like 6B gene DOID:0060041 autism spectrum disorder ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:32312822 8916741 Actl6b actin like 6B gene DOID:0112212 developmental and epileptic encephalopathy 76 ISO RGD:1351133 D RGD:7240710 20190731 OMIM 8916741 Actl6b actin like 6B gene DOID:0112212 developmental and epileptic encephalopathy 76 ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ACTL6B-related BAFopathy | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 76 PMID:25741868|PMID:26539891|PMID:28492532|PMID:30237576|PMID:30656450|PMID:31031012|PMID:34008892 8916741 Actl6b actin like 6B gene DOID:1059 intellectual disability ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892 8916741 Actl6b actin like 6B gene DOID:12849 autistic disorder ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892 8916741 Actl6b actin like 6B gene DOID:1826 epilepsy ISO RGD:1351133 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8916741 Actl6b actin like 6B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1351133 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:28973294 8916741 Actl6b actin like 6B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8916741 Actl6b actin like 6B gene DOID:630 genetic disease ISO RGD:1351133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892 8916741 Actl6b actin like 6B gene DOID:9006467 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS ISO RGD:1351133 D RGD:7240710 20190807 OMIM 8916741 Actl6b actin like 6B gene DOID:9006467 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS ISO RGD:1351133 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with severe speech and ambulation defects PMID:25741868|PMID:28492532|PMID:31031012|PMID:34008892|PMID:35887114 8916741 Actl6b actin like 6B gene DOID:9007921 Spina Bifida Cystica ISO RGD:1307763 D RGD:9068941 20200609 RGD PMID:23677776|REF_RGD_ID:9587760 8916741 Actl6b actin like 6B gene DOID:9008086 Developmental Disabilities ISO RGD:1351133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26539891 8916785 Rps6 ribosomal protein S6 gene DOID:224 transient cerebral ischemia ISO RGD:3602 D RGD:9068941 20200609 RGD PMID:26556340|REF_RGD_ID:11041643 8916785 Rps6 ribosomal protein S6 gene DOID:630 genetic disease ISO RGD:735279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916785 Rps6 ribosomal protein S6 gene DOID:684 hepatocellular carcinoma ISO RGD:735279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 8916785 Rps6 ribosomal protein S6 gene DOID:8725 vascular dementia treatment ISO RGD:3602 D RGD:9068941 20200609 RGD PMID:25767501|REF_RGD_ID:11041644 8916785 Rps6 ribosomal protein S6 gene DOID:9000217 Stomach Neoplasms ISO RGD:735279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8916785 Rps6 ribosomal protein S6 gene DOID:9000918 Disease Progression ISO RGD:735279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8916785 Rps6 ribosomal protein S6 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:3602 D RGD:9068941 20200609 RGD PMID:22014063|REF_RGD_ID:11041642 8916785 Rps6 ribosomal protein S6 gene DOID:9007874 Liver Failure ISO RGD:3602 D RGD:9068941 20200609 RGD PMID:501300|REF_RGD_ID:11040911 8916785 Rps6 ribosomal protein S6 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:3602 D RGD:9068941 20200709 RGD PMID:31007149|REF_RGD_ID:34888237 8916785 Rps6 ribosomal protein S6 gene DOID:9008237 Hemimegalencephaly ISO RGD:735279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly 8916785 Rps6 ribosomal protein S6 gene DOID:9008939 Breast Neoplasms ISO RGD:735279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197467 8916792 Trappc12 trafficking protein particle complex subunit 12 gene DOID:0111881 Diamond-Blackfan anemia 8 ISO RGD:1343529 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 PMID:28492532 8916792 Trappc12 trafficking protein particle complex subunit 12 gene DOID:10908 hydrocephalus ISO RGD:1343529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus 8916792 Trappc12 trafficking protein particle complex subunit 12 gene DOID:630 genetic disease ISO RGD:1343529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28777934|PMID:32369837 8916792 Trappc12 trafficking protein particle complex subunit 12 gene DOID:9008447 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY ISO RGD:1343529 D RGD:7240710 20190315 OMIM 8916792 Trappc12 trafficking protein particle complex subunit 12 gene DOID:9008447 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY ISO RGD:1343529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | ClinVar Annotator: match by term: Progressive childhood encephalopathy PMID:17576681|PMID:25614871|PMID:25741868|PMID:28492532|PMID:28777934|PMID:32347653|PMID:32369837|PMID:9536098 8916811 Ganc glucosidase alpha, neutral C gene DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A ISO RGD:1350162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A PMID:10330340|PMID:15689361|PMID:28492532 8916811 Ganc glucosidase alpha, neutral C gene DOID:2717 Bloom syndrome ISO RGD:1350162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8916811 Ganc glucosidase alpha, neutral C gene DOID:630 genetic disease ISO RGD:1350162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916811 Ganc glucosidase alpha, neutral C gene DOID:9256 colorectal cancer ISO RGD:1350162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:15829536|PMID:22047666|PMID:25741868|PMID:27535533|PMID:28492532 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:736839 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MEGDEL syndrome PMID:25741868 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:736839 D RGD:7240710 20180130 OMIM 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:736839 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of PMID:15829536|PMID:22047666|PMID:25741868|PMID:27535533|PMID:28492532|PMID:29452611 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:10591 pre-eclampsia ISO RGD:736839 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:11714 gestational diabetes ISO RGD:736839 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:3454 brain infarction ISO RGD:2176 D RGD:9068941 20230527 RGD mRNA:decreased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:630 genetic disease ISO RGD:736839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9001133 Autosomal Dominant Nonsyndromic Deafness 82 ISO RGD:736839 D RGD:7240710 20220406 OMIM 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9001133 Autosomal Dominant Nonsyndromic Deafness 82 ISO RGD:736839 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 PMID:25741868|PMID:28492532|PMID:30535804 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9004538 Hearing Loss ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:736839 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 8916839 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:736839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8916892 Nsl1 NSL1 component of MIS12 kinetochore complex gene DOID:1540 parathyroid carcinoma ISO RGD:1345295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8916892 Nsl1 NSL1 component of MIS12 kinetochore complex gene DOID:630 genetic disease ISO RGD:1345295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916892 Nsl1 NSL1 component of MIS12 kinetochore complex gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8916902 Naxd NAD(P)HX dehydratase gene DOID:0111489 combined oxidative phosphorylation deficiency 27 ISO RGD:1601864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27 PMID:28492532 8916902 Naxd NAD(P)HX dehydratase gene DOID:2222 factor X deficiency ISO RGD:1601864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8916902 Naxd NAD(P)HX dehydratase gene DOID:630 genetic disease ISO RGD:1601864 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8916902 Naxd NAD(P)HX dehydratase gene DOID:9000217 Stomach Neoplasms ISO RGD:1601864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8916902 Naxd NAD(P)HX dehydratase gene DOID:9000918 Disease Progression ISO RGD:1601864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8916902 Naxd NAD(P)HX dehydratase gene DOID:9001541 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 ISO RGD:1601864 D RGD:7240710 20190315 OMIM 8916902 Naxd NAD(P)HX dehydratase gene DOID:9001541 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 ISO RGD:1601864 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 PMID:25741868|PMID:28492532|PMID:30576410|PMID:31755961|PMID:32462209|PMID:35231119 8916902 Naxd NAD(P)HX dehydratase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1601864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8916921 Glra3 glycine receptor alpha 3 gene DOID:4001 ovarian carcinoma ISO RGD:732840 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 8916921 Glra3 glycine receptor alpha 3 gene DOID:630 genetic disease ISO RGD:732840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916921 Glra3 glycine receptor alpha 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8916945 Lepr leptin receptor gene DOID:0050700 cardiomyopathy ISO RGD:735832 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33345901 8916945 Lepr leptin receptor gene DOID:0050847 sleep apnea ISO RGD:735832 D RGD:9068941 20200609 RGD PMID:11896492|REF_RGD_ID:5128873 8916945 Lepr leptin receptor gene DOID:0050848 obstructive sleep apnea susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.Q223R (human) PMID:18204169|REF_RGD_ID:5128855 8916945 Lepr leptin receptor gene DOID:0050855 renal fibrosis disease_progression ISO RGD:3001 D RGD:9068941 20200709 RGD PMID:27465994|REF_RGD_ID:12911217 8916945 Lepr leptin receptor gene DOID:0080001 bone disease ISO RGD:735832 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28130181 8916945 Lepr leptin receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:10865 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 8916945 Lepr leptin receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:intron:c.2673+1118C>T (rs6700896) (human) PMID:22215535|REF_RGD_ID:14696694 8916945 Lepr leptin receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Q223R(human) PMID:27257426|REF_RGD_ID:21079462 8916945 Lepr leptin receptor gene DOID:0080547 metabolic dysfunction-associated steatohepatitis susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:SNPs: : (rs1137100, rs1137101) (human) PMID:23278404|REF_RGD_ID:14696696 8916945 Lepr leptin receptor gene DOID:1059 intellectual disability ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8916945 Lepr leptin receptor gene DOID:10591 pre-eclampsia ISO RGD:3001 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:16021089|REF_RGD_ID:5128718 8916945 Lepr leptin receptor gene DOID:10603 glucose intolerance ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|PMID:27465994|REF_RGD_ID:12911216|REF_RGD_ID:12911217 8916945 Lepr leptin receptor gene DOID:10603 glucose intolerance ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19452630|PMID:25367288|PMID:28611668|PMID:29988851 8916945 Lepr leptin receptor gene DOID:10605 short bowel syndrome ISO RGD:3001 D RGD:9068941 20200609 RGD mRNA:increased expression:small intestine PMID:19730157|REF_RGD_ID:5128624 8916945 Lepr leptin receptor gene DOID:1074 kidney failure ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29988851 8916945 Lepr leptin receptor gene DOID:10763 hypertension ISO RGD:3001 D RGD:9068941 20240208 RGD DNA:mutations:cds: : (rat) PMID:32710530|REF_RGD_ID:401960103 8916945 Lepr leptin receptor gene DOID:10763 hypertension ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949526 8916945 Lepr leptin receptor gene DOID:10763 hypertension ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:polymorphisms:exons PMID:10999797|REF_RGD_ID:5129161 8916945 Lepr leptin receptor gene DOID:10763 hypertension disease_progression ISO RGD:3001 D RGD:9068941 20201211 RGD PMID:27465994|REF_RGD_ID:12911217 8916945 Lepr leptin receptor gene DOID:10952 nephritis ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29988851 8916945 Lepr leptin receptor gene DOID:11476 osteoporosis susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutations:CDS:p.K109R, Q223R (human) PMID:23460508|REF_RGD_ID:10411886 8916945 Lepr leptin receptor gene DOID:1168 familial hyperlipidemia ISO RGD:735832 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:25222487|PMID:33345901 8916945 Lepr leptin receptor gene DOID:11714 gestational diabetes ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 8916945 Lepr leptin receptor gene DOID:11981 morbid obesity ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9537324 8916945 Lepr leptin receptor gene DOID:12236 primary biliary cholangitis ISO RGD:735832 D RGD:9068941 20200609 RGD protein:increased expression:blood serum PMID:16093869|REF_RGD_ID:10411894 8916945 Lepr leptin receptor gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q223R (human) PMID:19337797|REF_RGD_ID:2311129 8916945 Lepr leptin receptor gene DOID:1561 cognitive disorder ISO RGD:735832 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35192202 8916945 Lepr leptin receptor gene DOID:1924 hypogonadism ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 8916945 Lepr leptin receptor gene DOID:2018 hyperinsulinism ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|REF_RGD_ID:12911216 8916945 Lepr leptin receptor gene DOID:2018 hyperinsulinism ISO RGD:735832 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:22949526|PMID:24384915|PMID:25222487|PMID:29988851|PMID:30689673|PMID:33345901|PMID:3519326 8916945 Lepr leptin receptor gene DOID:2349 arteriosclerosis ISO RGD:735832 D RGD:9068941 20200609 RGD PMID:11460888|REF_RGD_ID:1581846 8916945 Lepr leptin receptor gene DOID:26 pancreas disease ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3519326 8916945 Lepr leptin receptor gene DOID:2999 granulosa cell tumor ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28861689 8916945 Lepr leptin receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735832 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19196818|REF_RGD_ID:5128813 8916945 Lepr leptin receptor gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19196818|REF_RGD_ID:5128813 8916945 Lepr leptin receptor gene DOID:3393 coronary artery disease susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q223R (human) PMID:27257426|REF_RGD_ID:21079462 8916945 Lepr leptin receptor gene DOID:3770 pulmonary fibrosis ISO RGD:10865 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21317313|REF_RGD_ID:5128773 8916945 Lepr leptin receptor gene DOID:4195 hyperglycemia ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|REF_RGD_ID:12911216 8916945 Lepr leptin receptor gene DOID:4195 hyperglycemia ISO RGD:735832 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:17065336|PMID:19682441|PMID:20567778|PMID:24384915|PMID:28130181|PMID:29143802|PMID:29743445|PMID:29988851|PMID:29991592|PMID:30635400|PMID:33345901|PMID:3519326|PMID:35235096|PMID:36066211|PMID:36880193 8916945 Lepr leptin receptor gene DOID:4989 pancreatitis ISO RGD:3001 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q269P (rat) PMID:21836382|REF_RGD_ID:10412020 8916945 Lepr leptin receptor gene DOID:5016 hepatocellular clear cell carcinoma ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:20723213|REF_RGD_ID:14696785 8916945 Lepr leptin receptor gene DOID:5223 infertility ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15093691 8916945 Lepr leptin receptor gene DOID:5223 infertility treatment ISO RGD:10865 D RGD:9068941 20200609 RGD PMID:16284652|REF_RGD_ID:10412018 8916945 Lepr leptin receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735832 D RGD:9068941 20200609 RGD protein:increased phosphorylation:peripheral blood mononuclear cell PMID:12100031|REF_RGD_ID:21079471 8916945 Lepr leptin receptor gene DOID:53 pituitary gland disease ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9537324 8916945 Lepr leptin receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8916945 Lepr leptin receptor gene DOID:557 kidney disease ISO RGD:735832 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:20567778|PMID:33345901 8916945 Lepr leptin receptor gene DOID:576 proteinuria ISO RGD:3001 D RGD:9068941 20201211 RGD compared to SS/JrHsdMcwi PMID:27465994|REF_RGD_ID:12911217 8916945 Lepr leptin receptor gene DOID:576 proteinuria ISO RGD:735832 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36066211 8916945 Lepr leptin receptor gene DOID:576 proteinuria sexual_dimorphism ISO RGD:3001 D RGD:9068941 20201211 RGD compared to BN PMID:20159938|REF_RGD_ID:7365117 8916945 Lepr leptin receptor gene DOID:6000 congestive heart failure ISO RGD:10865 D RGD:9068941 20200609 RGD protein:increased phosphorylation:heart PMID:18006469|REF_RGD_ID:5128823 8916945 Lepr leptin receptor gene DOID:6000 congestive heart failure ISO RGD:3001 D RGD:9068941 20240208 RGD DNA:mutations:cds: : (rat) PMID:32710530|REF_RGD_ID:401960103 8916945 Lepr leptin receptor gene DOID:612 primary immunodeficiency disease ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 8916945 Lepr leptin receptor gene DOID:630 genetic disease ISO RGD:735832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8916945 Lepr leptin receptor gene DOID:6432 pulmonary hypertension ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30689673 8916945 Lepr leptin receptor gene DOID:655 inherited metabolic disorder ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 8916945 Lepr leptin receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:missense mutations:cds:p.Q223R, p.K109R (human) PMID:23090836|REF_RGD_ID:21079466 8916945 Lepr leptin receptor gene DOID:784 chronic kidney disease ISO RGD:3001 D RGD:9068941 20201211 RGD PMID:27465994|PMID:32390513|REF_RGD_ID:12911217|REF_RGD_ID:34888223 8916945 Lepr leptin receptor gene DOID:9000528 Coronary Disease onset ISO RGD:735832 D RGD:9068941 20230914 RGD DNA:SNP: C>T (rs6656451) (human) PMID:29848931|REF_RGD_ID:401799677 8916945 Lepr leptin receptor gene DOID:9000784 Fibrosis ISO RGD:735832 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:20567778|PMID:29988851|PMID:36066211 8916945 Lepr leptin receptor gene DOID:9001239 Delayed Puberty ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 8916945 Lepr leptin receptor gene DOID:9001472 Nasal Polyps ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20422702|REF_RGD_ID:5129163 8916945 Lepr leptin receptor gene DOID:9001542 Albuminuria ISO RGD:735832 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:17065336|PMID:20175764|PMID:23159718|PMID:28130181|PMID:29988851 8916945 Lepr leptin receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3001 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23886859|REF_RGD_ID:10412036 8916945 Lepr leptin receptor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35235096 8916945 Lepr leptin receptor gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10865 D RGD:9068941 20200609 RGD PMID:21148797|REF_RGD_ID:5128846 8916945 Lepr leptin receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:3001 D RGD:9068941 20240208 RGD DNA:mutations:cds: : (rat) PMID:28746409|REF_RGD_ID:401965413 8916945 Lepr leptin receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:735832 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:28130181|PMID:29988851|PMID:36066211 8916945 Lepr leptin receptor gene DOID:9002211 Hyperalgesia ISO RGD:735832 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:29143802 8916945 Lepr leptin receptor gene DOID:9002331 Knee Osteoarthritis ISO RGD:735832 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:23575542|REF_RGD_ID:10411887 8916945 Lepr leptin receptor gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:SNP:CDS:668A>G (human) PMID:23575542|REF_RGD_ID:10411887 8916945 Lepr leptin receptor gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q223R (human) PMID:17243864|REF_RGD_ID:10411889 8916945 Lepr leptin receptor gene DOID:9002569 Overweight ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23038009 8916945 Lepr leptin receptor gene DOID:9002916 Hyperphagia ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|REF_RGD_ID:12911216 8916945 Lepr leptin receptor gene DOID:9002916 Hyperphagia ISO RGD:3001 D RGD:9068941 20201211 RGD compared to age-matched lean +/fa rats PMID:9843879|REF_RGD_ID:628910 8916945 Lepr leptin receptor gene DOID:9002916 Hyperphagia ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:17229951|PMID:3519326 8916945 Lepr leptin receptor gene DOID:9003370 Dyslipidemias ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:26537785|REF_RGD_ID:12911216 8916945 Lepr leptin receptor gene DOID:9003370 Dyslipidemias ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20567778|PMID:29988851 8916945 Lepr leptin receptor gene DOID:9003631 Diastolic Dysfunction ISO RGD:3001 D RGD:9068941 20240208 RGD DNA:mutations:cds: : (rat) PMID:28746409|REF_RGD_ID:401965413 8916945 Lepr leptin receptor gene DOID:9003631 Diastolic Dysfunction ISO RGD:3001 D RGD:9068941 20240208 RGD compared to lean leptin receptor sufficient littermates ZSF1-Leprlean/Crl (RS:0005317) PMID:32710530|REF_RGD_ID:401960103 8916945 Lepr leptin receptor gene DOID:9003631 Diastolic Dysfunction treatment ISO RGD:3001 D RGD:9068941 20240208 RGD DNA:mutations:cds: : (rat) PMID:33568522|REF_RGD_ID:401965412 8916945 Lepr leptin receptor gene DOID:9004017 Chronic Hepatitis C ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:altered expression:liver, peripheral blood mononuclear cell PMID:17060687|REF_RGD_ID:21079470 8916945 Lepr leptin receptor gene DOID:9004272 Varicose Ulcer ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin PMID:22773832|REF_RGD_ID:10412021 8916945 Lepr leptin receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:18469142|REF_RGD_ID:5129122 8916945 Lepr leptin receptor gene DOID:9004657 Weight Gain ISO RGD:735832 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:15809509|PMID:29143802|PMID:29988851|PMID:36066211|PMID:36880193 8916945 Lepr leptin receptor gene DOID:9004946 Leptin Receptor Deficiency ISO RGD:735832 D RGD:7240710 20180130 OMIM 8916945 Lepr leptin receptor gene DOID:9004946 Leptin Receptor Deficiency ISO RGD:735832 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: LEPR-related condition | ClinVar Annotator: match by term: Leptin receptor deficiency PMID:11354636|PMID:11380591|PMID:11443193|PMID:12006639|PMID:12646666|PMID:15585384|PMID:16284652|PMID:17229951|PMID:17785359|PMID:18212354|PMID:18490929|PMID:18703626|PMID:21393862|PMID:21744741|PMID:22331430|PMID:22810975|PMID:24611737|PMID:25741868|PMID:26094658|PMID:26467025|PMID:28492532|PMID:29970488|PMID:30926952|PMID:31237021|PMID:33221380|PMID:34097736|PMID:8666155|PMID:9144432|PMID:9537324|PMID:9860295 8916945 Lepr leptin receptor gene DOID:9005369 Hepatomegaly ISO RGD:735832 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:23038009|PMID:29743445|PMID:36880193 8916945 Lepr leptin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735832 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:15093691|PMID:16427799|PMID:17065336|PMID:19452630|PMID:19478208|PMID:20567778|PMID:22933112|PMID:24263156|PMID:26939912|PMID:27151219|PMID:30635400|PMID:35472412|PMID:36066211 8916945 Lepr leptin receptor gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30689673 8916945 Lepr leptin receptor gene DOID:9006205 Animal Disease Models ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35235096 8916945 Lepr leptin receptor gene DOID:9006646 Metabolic Syndrome ISO RGD:3001 D RGD:9068941 20240208 RGD DNA:mutations::cds: : (rat) PMID:10901178|REF_RGD_ID:401965414 8916945 Lepr leptin receptor gene DOID:9006646 Metabolic Syndrome ISO RGD:3001 D RGD:9068941 20240208 RGD DNA:mutations:cds: : (rat) PMID:28746409|PMID:32710530|REF_RGD_ID:401960103|REF_RGD_ID:401965413 8916945 Lepr leptin receptor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:735832 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35235096 8916945 Lepr leptin receptor gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:p.Q223R (human) PMID:19337797|REF_RGD_ID:2311129 8916945 Lepr leptin receptor gene DOID:9007284 Precocious Puberty ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 8916945 Lepr leptin receptor gene DOID:9007402 Gliosis ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29191728 8916945 Lepr leptin receptor gene DOID:9007456 Female Infertility ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 8916945 Lepr leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:23154293|REF_RGD_ID:13432147 8916945 Lepr leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19452630|PMID:20567778|PMID:25367288|PMID:28611668|PMID:29988851|PMID:30689673 8916945 Lepr leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:735832 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:CDS:p.K656N (human) PMID:18632178|REF_RGD_ID:2311138 8916945 Lepr leptin receptor gene DOID:9007692 Insulin Resistance ISO RGD:735832 D RGD:9068941 20200609 RGD associated with Obesity;DNA:missense mutation:CDS:p.K656N (human) PMID:18413223|REF_RGD_ID:2311142 8916945 Lepr leptin receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3001 D RGD:9068941 20200609 RGD mRNA:altered expression:heart PMID:17134725|REF_RGD_ID:1626628 8916945 Lepr leptin receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3001 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:15284063|REF_RGD_ID:5129123 8916945 Lepr leptin receptor gene DOID:9008163 Chronic Hepatitis B ISO RGD:735832 D RGD:9068941 20200609 RGD mRNA:altered expression:liver, peripheral blood mononuclear cell PMID:17060687|REF_RGD_ID:21079470 8916945 Lepr leptin receptor gene DOID:9008680 Respiratory Tract Infections ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229951 8916945 Lepr leptin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21353530 8916945 Lepr leptin receptor gene DOID:9351 diabetes mellitus ISO RGD:735832 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 8916945 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:10865 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8916945 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:3001 D RGD:9068941 20200609 RGD PMID:23154293|REF_RGD_ID:13432147 8916945 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:3001 D RGD:9068941 20240208 RGD DNA:mutations:cds: : (rat) PMID:32710530|REF_RGD_ID:401960103 8916945 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175764|PMID:22933112|PMID:24263156|PMID:26939912 8916945 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:18439701|REF_RGD_ID:2311141 8916945 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:735832 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease;DNA:intron:c.2673+1118C>T (rs6700896) (human) PMID:22215535|REF_RGD_ID:14696694 8916945 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:insertion:3' utr (human) PMID:17065694|REF_RGD_ID:2311144 8916945 Lepr leptin receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:10865 D RGD:9068941 20200609 RGD PMID:16284652|REF_RGD_ID:10412018 8916945 Lepr leptin receptor gene DOID:9452 steatotic liver disease ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25367288|PMID:29743445 8916945 Lepr leptin receptor gene DOID:9743 diabetic neuropathy ISO RGD:735832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24263156 8916945 Lepr leptin receptor gene DOID:9775 diastolic heart failure treatment ISO RGD:3001 D RGD:9068941 20240208 RGD PMID:33568522|REF_RGD_ID:401965412 8916945 Lepr leptin receptor gene DOID:9970 obesity ISO RGD:735832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity PMID:11354636|PMID:11380591|PMID:11443193|PMID:12006639|PMID:17785359|PMID:18490929|PMID:21393862|PMID:21744741|PMID:22331430|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8666155 8916945 Lepr leptin receptor gene DOID:9970 obesity disease_progression ISO RGD:3001 D RGD:9068941 20201211 RGD PMID:27465994|REF_RGD_ID:12911217 8916945 Lepr leptin receptor gene DOID:9970 obesity no_association ISO RGD:735832 D RGD:9068941 20200609 RGD PMID:9545018|REF_RGD_ID:10412023 8916945 Lepr leptin receptor gene DOID:9970 obesity sexual_dimorphism ISO RGD:3001 D RGD:9068941 20201211 RGD compared to BN PMID:20159938|REF_RGD_ID:7365117 8916945 Lepr leptin receptor gene DOID:9970 obesity susceptibility ISO RGD:735832 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.Q223R (human) PMID:18204169|REF_RGD_ID:5128855 8916945 Lepr leptin receptor gene DOID:9970 obesity treatment ISO RGD:10865 D RGD:9068941 20200609 RGD PMID:16284652|REF_RGD_ID:10412018 8916945 Lepr leptin receptor gene DOID:9970 obesity treatment ISO RGD:3001 D RGD:9068941 20240208 RGD PMID:33568522|REF_RGD_ID:401965412 8916974 Rcsd1 RCSD domain containing 1 gene DOID:0111942 immunodeficiency 25 ISO RGD:1603598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 8916974 Rcsd1 RCSD domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8916974 Rcsd1 RCSD domain containing 1 gene DOID:630 genetic disease ISO RGD:1603598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8916974 Rcsd1 RCSD domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8916974 Rcsd1 RCSD domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8917032 Ago2 argonaute RISC catalytic component 2 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:732767 D RGD:9068941 20231116 RGD DNA:SNP:promoter:A>C(rs4961280)(human) PMID:25495208|REF_RGD_ID:401900681 8917032 Ago2 argonaute RISC catalytic component 2 gene DOID:0060001 withdrawal disorder ISO RGD:621255 D RGD:9068941 20231116 RGD protein:increased expression:ventral tegmental area PMID:23927484|REF_RGD_ID:401900655 8917032 Ago2 argonaute RISC catalytic component 2 gene DOID:0080860 primary ovarian insufficiency 3 ISO RGD:732767 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 3 PMID:25741868|PMID:33199684 8917032 Ago2 argonaute RISC catalytic component 2 gene DOID:1686 glaucoma exacerbates ISO RGD:732767 D RGD:9068941 20231118 RGD PMID:29392316|REF_RGD_ID:401900730 8917032 Ago2 argonaute RISC catalytic component 2 gene DOID:1790 malignant mesothelioma ISO RGD:732767 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8917032 Ago2 argonaute RISC catalytic component 2 gene DOID:2560 morphine dependence ISO RGD:621255 D RGD:9068941 20231116 RGD PMID:23927484|REF_RGD_ID:401900655 8917032 Ago2 argonaute RISC catalytic component 2 gene DOID:630 genetic disease ISO RGD:732767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33199684 8917032 Ago2 argonaute RISC catalytic component 2 gene DOID:8692 myeloid leukemia ISO RGD:732767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21535412 8917032 Ago2 argonaute RISC catalytic component 2 gene DOID:9003372 LESSEL-KREIENKAMP SYNDROME ISO RGD:732767 D RGD:7240710 20210217 OMIM 8917032 Ago2 argonaute RISC catalytic component 2 gene DOID:9003372 LESSEL-KREIENKAMP SYNDROME ISO RGD:732767 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lessel-Kreienkamp syndrome PMID:25741868|PMID:33199684 8917032 Ago2 argonaute RISC catalytic component 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732767 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8917032 Ago2 argonaute RISC catalytic component 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732767 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20643829 8917071 Psenen presenilin enhancer, gamma-secretase subunit gene DOID:0110222 Brugada syndrome 5 ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8917071 Psenen presenilin enhancer, gamma-secretase subunit gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1347919 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8917071 Psenen presenilin enhancer, gamma-secretase subunit gene DOID:543 dystonia ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8917071 Psenen presenilin enhancer, gamma-secretase subunit gene DOID:630 genetic disease ISO RGD:1347919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917071 Psenen presenilin enhancer, gamma-secretase subunit gene DOID:9001644 Familial Acne Inversa 2 ISO RGD:1347919 D RGD:7240710 20210721 OMIM 8917071 Psenen presenilin enhancer, gamma-secretase subunit gene DOID:9001644 Familial Acne Inversa 2 ISO RGD:1347919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acne inversa, familial, 2 PMID:20929727|PMID:21412258|PMID:25741868|PMID:27900998|PMID:28287404|PMID:28492532|PMID:28601418 8917071 Psenen presenilin enhancer, gamma-secretase subunit gene DOID:9008895 Familial Hidradenitis Suppurativa ISO RGD:1347919 D RGD:9068941 20210723 CTD CTD Direct Evidence: marker/mechanism PMID:20929727 8917108 Macir macrophage immunometabolism regulator gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602449 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8917108 Macir macrophage immunometabolism regulator gene DOID:0080600 COVID-19 ISO RGD:1602449 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8917108 Macir macrophage immunometabolism regulator gene DOID:3068 glioblastoma ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8917108 Macir macrophage immunometabolism regulator gene DOID:3908 lung non-small cell carcinoma ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8917108 Macir macrophage immunometabolism regulator gene DOID:9000081 Lymphatic Metastasis ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8917108 Macir macrophage immunometabolism regulator gene DOID:9000117 Esophageal Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8917108 Macir macrophage immunometabolism regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8917108 Macir macrophage immunometabolism regulator gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8917108 Macir macrophage immunometabolism regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8917108 Macir macrophage immunometabolism regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8917108 Macir macrophage immunometabolism regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602449 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8917108 Macir macrophage immunometabolism regulator gene DOID:9007188 Liver Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8917108 Macir macrophage immunometabolism regulator gene DOID:9008939 Breast Neoplasms ISO RGD:1602449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8917120 Arl1 ADP ribosylation factor like GTPase 1 gene DOID:630 genetic disease ISO RGD:732961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917130 Dennd1a DENN domain containing 1A gene DOID:630 genetic disease ISO RGD:1317405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917169 Epha4 EPH receptor A4 gene DOID:10652 Alzheimer's disease ISO RGD:1345605 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:19542617|REF_RGD_ID:6218956 8917169 Epha4 EPH receptor A4 gene DOID:10652 Alzheimer's disease ISO RGD:1558389 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:19542617|REF_RGD_ID:6218956 8917169 Epha4 EPH receptor A4 gene DOID:3602 toxic encephalopathy ISO RGD:1560587 D RGD:9068941 20200609 RGD PMID:10336070|REF_RGD_ID:5688752 8917169 Epha4 EPH receptor A4 gene DOID:630 genetic disease ISO RGD:1345605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8917169 Epha4 EPH receptor A4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1558389 D RGD:9068941 20200609 RGD PMID:21931787|REF_RGD_ID:5688764 8917169 Epha4 EPH receptor A4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1560587 D RGD:9068941 20200609 RGD PMID:17418490|PMID:17970742|REF_RGD_ID:5688750|REF_RGD_ID:5688782 8917169 Epha4 EPH receptor A4 gene DOID:9000998 Brain Injuries ISO RGD:1345605 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:astrocyte PMID:22318127|REF_RGD_ID:5688763 8917169 Epha4 EPH receptor A4 gene DOID:9001793 Generalized Epilepsy ISO RGD:1345605 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8917169 Epha4 EPH receptor A4 gene DOID:9002211 Hyperalgesia ISO RGD:1560587 D RGD:9068941 20200609 RGD associated with spinal cord injuries; PMID:16959251|REF_RGD_ID:5688783 8917169 Epha4 EPH receptor A4 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1560587 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21736568|REF_RGD_ID:5688765 8917169 Epha4 EPH receptor A4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8917169 Epha4 EPH receptor A4 gene DOID:9007402 Gliosis ISO RGD:1558389 D RGD:9068941 20200609 RGD associated with spinal cord injuries; PMID:15537875|REF_RGD_ID:5688771 8917169 Epha4 EPH receptor A4 gene DOID:9007402 Gliosis no_association ISO RGD:1558389 D RGD:9068941 20200609 RGD associated with spinal cord injuries; PMID:20170651|REF_RGD_ID:5688772 8917192 Rskr ribosomal protein S6 kinase related gene DOID:630 genetic disease ISO RGD:1603276 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917209 Chat choline O-acetyltransferase gene DOID:0050741 alcohol dependence ISO RGD:1549990 D RGD:9068941 20240222 RGD protein:decreased expression:hippocampus,septum,striatum PMID:8436061|REF_RGD_ID:401976285 8917209 Chat choline O-acetyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:1312173 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8917209 Chat choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:1312173 D RGD:7240710 20180130 OMIM 8917209 Chat choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:1312173 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:11172068|PMID:12548525|PMID:12609506|PMID:12756141|PMID:15381704|PMID:15701560|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19520274|PMID:19900826|PMID:21786365|PMID:21948486|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:25741895|PMID:26080897|PMID:26467025|PMID:26789281|PMID:28492532|PMID:28497657|PMID:28991257|PMID:29054425|PMID:29189923|PMID:32368696|PMID:33820833|PMID:34740919|PMID:9073174|PMID:9536098 8917209 Chat choline O-acetyltransferase gene DOID:0110671 congenital myasthenic syndrome 6 susceptibility ISO RGD:1312173 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations PMID:11172068|REF_RGD_ID:1600831 8917209 Chat choline O-acetyltransferase gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 21 PMID:25741868|PMID:27590285|PMID:28492532 8917209 Chat choline O-acetyltransferase gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1312173 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:12548525|PMID:21786365|PMID:23292760|PMID:25741868|PMID:28492532 8917209 Chat choline O-acetyltransferase gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1312173 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868 8917209 Chat choline O-acetyltransferase gene DOID:10652 Alzheimer's disease ISO RGD:1304627 D RGD:9068941 20200609 RGD PMID:16834974|REF_RGD_ID:1600851 8917209 Chat choline O-acetyltransferase gene DOID:10652 Alzheimer's disease ISO RGD:1312173 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:4G>A PMID:12401548|REF_RGD_ID:1358495 8917209 Chat choline O-acetyltransferase gene DOID:11372 megacolon ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8917209 Chat choline O-acetyltransferase gene DOID:12858 Huntington's disease ISO RGD:1549990 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:16987871|REF_RGD_ID:5686805 8917209 Chat choline O-acetyltransferase gene DOID:13550 angle-closure glaucoma ISO RGD:1312173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 8917209 Chat choline O-acetyltransferase gene DOID:1596 depressive disorder ISO RGD:1304627 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 8917209 Chat choline O-acetyltransferase gene DOID:2841 asthma ISO RGD:1304627 D RGD:9068941 20200609 RGD Protein:decreased expression:lung epithelium PMID:17328924|REF_RGD_ID:5686690 8917209 Chat choline O-acetyltransferase gene DOID:3635 congenital myasthenic syndrome ISO RGD:1312173 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:11172068|PMID:12548525|PMID:19520274|PMID:21786365|PMID:22678886|PMID:23292760|PMID:24033266|PMID:25741868|PMID:25741895|PMID:26080897|PMID:28492532|PMID:28497657|PMID:28991257|PMID:29189923|PMID:32368696|PMID:33820833 8917209 Chat choline O-acetyltransferase gene DOID:535 sleep disorder ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sleep disturbance PMID:25741868 8917209 Chat choline O-acetyltransferase gene DOID:5419 schizophrenia ISO RGD:1312173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8917209 Chat choline O-acetyltransferase gene DOID:5679 retinal disease ISO RGD:1312173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 8917209 Chat choline O-acetyltransferase gene DOID:630 genetic disease ISO RGD:1312173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8917209 Chat choline O-acetyltransferase gene DOID:9002563 Gait Ataxia ISO RGD:1312173 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Gait ataxia PMID:25741868 8917209 Chat choline O-acetyltransferase gene DOID:9004009 Reperfusion Injury ISO RGD:1312173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 8917209 Chat choline O-acetyltransferase gene DOID:9005532 Muscle Weakness ISO RGD:1312173 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 8917209 Chat choline O-acetyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1304627 D RGD:9068941 20240309 RGD protein:decreased expression:telencephalon PMID:26282349|REF_RGD_ID:402463971 8917209 Chat choline O-acetyltransferase gene DOID:9220 central sleep apnea ISO RGD:1312173 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Apnea, central sleep PMID:12548525|PMID:15701560|PMID:25741868|PMID:28492532 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:0110671 congenital myasthenic syndrome 6 ISO RGD:732691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:21948486|PMID:25741868|PMID:28492532 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:732691 D RGD:7240710 20190315 OMIM 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:0110672 congenital myasthenic syndrome 21 ISO RGD:732691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 21 PMID:25741868|PMID:27590285|PMID:28492532 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:10652 Alzheimer's disease ISO RGD:62364 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:21333939|REF_RGD_ID:5686673 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:10652 Alzheimer's disease ISO RGD:732691 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:frontal association cortex PMID:21743130|REF_RGD_ID:5686430 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:11372 megacolon ISO RGD:732691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:12858 Huntington's disease ISO RGD:62364 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain, spinal cord PMID:16987871|REF_RGD_ID:5686805 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:12858 Huntington's disease ISO RGD:732691 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:striatum PMID:16987871|REF_RGD_ID:5686805 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:1824 status epilepticus ISO RGD:62364 D RGD:9068941 20200609 RGD PMID:18394802|REF_RGD_ID:5686685 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:2841 asthma ISO RGD:62072 D RGD:9068941 20200609 RGD PMID:17328924|REF_RGD_ID:5686690 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:3635 congenital myasthenic syndrome ISO RGD:732691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:365 bladder disease ISO RGD:62072 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries;protein:decreased expression:axon terminus PMID:17229408|REF_RGD_ID:5686699 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:5419 schizophrenia ISO RGD:732691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:630 genetic disease ISO RGD:732691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:9000998 Brain Injuries ISO RGD:62072 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:18848922|REF_RGD_ID:5686682 8917228 Slc18a3 solute carrier family 18 member A3 gene DOID:9005930 Endotoxemia ISO RGD:62072 D RGD:9068941 20200609 RGD protein:decreased expression:parietal cortex PMID:17306796|REF_RGD_ID:5686693 8917233 Macc1 MET transcriptional regulator MACC1 gene DOID:0080600 COVID-19 ISO RGD:1602631 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8917233 Macc1 MET transcriptional regulator MACC1 gene DOID:4362 cervical cancer ISO RGD:1602631 D RGD:9068941 20220721 RGD mRNA:increased expression:cervical region (human) PMID:33603486|REF_RGD_ID:152999025 8917233 Macc1 MET transcriptional regulator MACC1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8917233 Macc1 MET transcriptional regulator MACC1 gene DOID:630 genetic disease ISO RGD:1602631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917233 Macc1 MET transcriptional regulator MACC1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1602631 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:36008464 8917233 Macc1 MET transcriptional regulator MACC1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1602631 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 8917253 Eml1 EMAP like 1 gene DOID:0111169 subcortical band heterotopia ISO RGD:1343308 D RGD:7240710 20190315 OMIM 8917253 Eml1 EMAP like 1 gene DOID:0111169 subcortical band heterotopia ISO RGD:1343308 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Band heterotopia of brain PMID:24859200|PMID:25741868|PMID:28492532|PMID:28556411 8917253 Eml1 EMAP like 1 gene DOID:2490 congenital nervous system abnormality ISO RGD:1314955 D RGD:9068941 20220825 MouseDO 8917253 Eml1 EMAP like 1 gene DOID:630 genetic disease ISO RGD:1343308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050451 Brugada syndrome ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17576681|PMID:20817017|PMID:21383000|PMID:22840528|PMID:23414114|PMID:25527503|PMID:25741868|PMID:26220970|PMID:26467025|PMID:26498160|PMID:28166811|PMID:28492532|PMID:9536098 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050451 Brugada syndrome ISO RGD:731942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17576681|PMID:20817017|PMID:21383000|PMID:22840528|PMID:23414114|PMID:25527503|PMID:25640679|PMID:25741868|PMID:26220970|PMID:26467025|PMID:26498160|PMID:27711072|PMID:28166811|PMID:28492532|PMID:29247119|PMID:30821013|PMID:30847666|PMID:9536098 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050793 short QT syndrome ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0050834 CHARGE syndrome ISO RGD:731942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0060319 cardiac arrest ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:20817017|PMID:21383000|PMID:22840528|PMID:25527503|PMID:25741868|PMID:28492532 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0070395 developmental and epileptic encephalopathy 110 ISO RGD:731942 D RGD:7240710 20221214 OMIM 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0070395 developmental and epileptic encephalopathy 110 ISO RGD:731942 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 110 PMID:35293990 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731942 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:10763 hypertension ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22949532 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:1826 epilepsy ISO RGD:731942 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:2843 long QT syndrome ISO RGD:731942 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:3454 brain infarction ISO RGD:2247 D RGD:9068941 20230527 RGD mRNA:decreased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:3459 breast carcinoma ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:5419 schizophrenia ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:630 genetic disease ISO RGD:731942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9000641 Pain ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17088553 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9002211 Hyperalgesia ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11245671|PMID:17881535|PMID:24133248 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731942 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17576681|PMID:20817017|PMID:21383000|PMID:22840528|PMID:23414114|PMID:25527503|PMID:25741868|PMID:26220970|PMID:26467025|PMID:26498160|PMID:27711072|PMID:28166811|PMID:28492532|PMID:29247119|PMID:30821013|PMID:30847666|PMID:9536098 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9005968 Neuralgia ISO RGD:731942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17442347|PMID:18400411|PMID:19339603|PMID:24133248 8917295 Cacna2d1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 gene DOID:9007614 Paroxysmal Atrial Fibrillation ISO RGD:731942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Paroxysmal atrial fibrillation PMID:20817017|PMID:25527503|PMID:25741868|PMID:28492532 8917337 Cd5 CD5 molecule gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8917337 Cd5 CD5 molecule gene DOID:1059 intellectual disability ISO RGD:736702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8917337 Cd5 CD5 molecule gene DOID:630 genetic disease ISO RGD:736702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917337 Cd5 CD5 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:736702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8917337 Cd5 CD5 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:736702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 8917357 Ptgfrn prostaglandin F2 receptor inhibitor gene DOID:0080600 COVID-19 ISO RGD:733934 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8917357 Ptgfrn prostaglandin F2 receptor inhibitor gene DOID:630 genetic disease ISO RGD:733934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917369 Sspn sarcospan gene DOID:0060224 atrial fibrillation ISO RGD:1347504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8917369 Sspn sarcospan gene DOID:630 genetic disease ISO RGD:1347504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917369 Sspn sarcospan gene DOID:9007173 Familial Natural Short Sleep 1 ISO RGD:1347504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short sleep, familial natural, 1 PMID:19679812|PMID:25083013 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1344177 D RGD:9068941 20200609 RGD mRNA:increased expression:skin (human) PMID:20505746|REF_RGD_ID:11087556 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:13922 eosinophilic esophagitis ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (human) PMID:24704289|REF_RGD_ID:11081157 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:13922 eosinophilic esophagitis treatment ISO RGD:1344177 D RGD:9068941 20200609 RGD PMID:18844613|REF_RGD_ID:11081156 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:2841 asthma ISO RGD:1344177 D RGD:9068941 20200609 RGD DNA:SNPs: :77C>T, 2497T>G (human) PMID:15207712|REF_RGD_ID:4891495 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:2841 asthma ISO RGD:1344177 D RGD:9068941 20200609 RGD DNA:SNPs: :77C>T, 716A>G, 1579G>A (human) PMID:18712274|REF_RGD_ID:4891483 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:2841 asthma ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16304252|REF_RGD_ID:5130930 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:2841 asthma treatment ISO RGD:1587817 D RGD:9068941 20200609 RGD PMID:25399816|REF_RGD_ID:11087575 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:2841 asthma treatment ISO RGD:1619597 D RGD:9068941 20200609 RGD PMID:25530546|REF_RGD_ID:11081163 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:3049 Churg-Strauss syndrome ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21266446|REF_RGD_ID:11081158 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:3310 atopic dermatitis ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:14616792|REF_RGD_ID:11087554 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:16620281|REF_RGD_ID:11081161 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:4031 eosinophilic gastroenteritis ISO RGD:1344177 D RGD:9068941 20200609 RGD mRNA:increased expression:gastric antrum (human) PMID:25234644|REF_RGD_ID:11081160 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:4481 allergic rhinitis ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:oronasal secretion (human) PMID:23883806|REF_RGD_ID:7364793 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:4483 rhinitis ISO RGD:1344177 D RGD:9068941 20200609 RGD DNA:polymorphism: :2497T>G (human) PMID:15580493|REF_RGD_ID:4891493 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:4483 rhinitis ISO RGD:1344177 D RGD:9068941 20200609 RGD associated with Eosinophilia;protein:increased expression:oronasal secretion (human) PMID:24989688|REF_RGD_ID:11531119 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:630 genetic disease ISO RGD:1344177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:8506 bullous pemphigoid ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:blister, serum (human) PMID:21881593|REF_RGD_ID:11087555 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:8534 gastroesophageal reflux disease ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (human) PMID:17900656|REF_RGD_ID:11081162 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:9000406 Eosinophilic Asthma severity ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:25936567|REF_RGD_ID:11531115 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:9001371 Eosinophilia ISO RGD:1344177 D RGD:9068941 20200609 RGD associated with Pleural Effusion PMID:15947325|REF_RGD_ID:5130928 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:9001371 Eosinophilia ISO RGD:1344177 D RGD:9068941 20200609 RGD associated with Sinusitis PMID:19296494|REF_RGD_ID:4891487 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:9001472 Nasal Polyps ISO RGD:1344177 D RGD:9068941 20200609 RGD associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium PMID:21303604|REF_RGD_ID:5130929 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:9003778 Eosinophilic Pustular Folliculitis ISO RGD:1344177 D RGD:9068941 20200609 RGD protein:increased expression:skin, sebocyte (human) PMID:22206772|REF_RGD_ID:11081159 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1344177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8917381 Ccl26 C-C motif chemokine ligand 26 gene DOID:9415 allergic asthma treatment ISO RGD:1619597 D RGD:9068941 20200609 RGD PMID:25530546|REF_RGD_ID:11081163 8917389 Srarp steroid receptor associated and regulated protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603359 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8917398 Podxl podocalyxin like gene DOID:0060368 Parkinson's disease 2 ISO RGD:736843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 PMID:26864383 8917398 Podxl podocalyxin like gene DOID:0060892 late onset Parkinson's disease ISO RGD:736843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:26864383|PMID:28492532 8917398 Podxl podocalyxin like gene DOID:0060903 thrombosis ISO RGD:736843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22016802 8917398 Podxl podocalyxin like gene DOID:3407 carotid artery disease ISO RGD:736843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22016802 8917398 Podxl podocalyxin like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8917398 Podxl podocalyxin like gene DOID:630 genetic disease ISO RGD:736843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8917398 Podxl podocalyxin like gene DOID:9002304 Prostatic Neoplasms ISO RGD:736843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434482 8917398 Podxl podocalyxin like gene DOID:9008217 Hemorrhage ISO RGD:736843 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22016802 8917411 Fam83e family with sequence similarity 83 member E gene DOID:630 genetic disease ISO RGD:1606549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917425 Rnf182 ring finger protein 182 gene DOID:630 genetic disease ISO RGD:1351673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917425 Rnf182 ring finger protein 182 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8917425 Rnf182 ring finger protein 182 gene DOID:9008939 Breast Neoplasms ISO RGD:1351673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8917437 Ppp1r7 protein phosphatase 1 regulatory subunit 7 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1317789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8917437 Ppp1r7 protein phosphatase 1 regulatory subunit 7 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1317789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8917437 Ppp1r7 protein phosphatase 1 regulatory subunit 7 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317789 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8917437 Ppp1r7 protein phosphatase 1 regulatory subunit 7 gene DOID:1059 intellectual disability ISO RGD:1317789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8917437 Ppp1r7 protein phosphatase 1 regulatory subunit 7 gene DOID:630 genetic disease ISO RGD:1317789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917437 Ppp1r7 protein phosphatase 1 regulatory subunit 7 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1317789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8917461 Castor2 cytosolic arginine sensor for mTORC1 subunit 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2306471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8917479 Ppt2 palmitoyl-protein thioesterase 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:731722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8917479 Ppt2 palmitoyl-protein thioesterase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735972 D RGD:9068941 20200609 RGD PMID:11717424|REF_RGD_ID:734785 8917479 Ppt2 palmitoyl-protein thioesterase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735972 D RGD:9068941 20220825 MouseDO 8917479 Ppt2 palmitoyl-protein thioesterase 2 gene DOID:630 genetic disease ISO RGD:731722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917504 Cdkl4 cyclin dependent kinase like 4 gene DOID:1682 congenital heart disease ISO RGD:1603844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 8917504 Cdkl4 cyclin dependent kinase like 4 gene DOID:3883 Lynch syndrome ISO RGD:1603844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8917504 Cdkl4 cyclin dependent kinase like 4 gene DOID:630 genetic disease ISO RGD:1603844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917504 Cdkl4 cyclin dependent kinase like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8917533 Ntng1 netrin G1 gene DOID:12849 autistic disorder ISO RGD:1350531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8917533 Ntng1 netrin G1 gene DOID:3312 bipolar disorder ISO RGD:1350531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 8917533 Ntng1 netrin G1 gene DOID:5419 schizophrenia ISO RGD:1350531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507910 8917533 Ntng1 netrin G1 gene DOID:630 genetic disease ISO RGD:1350531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917533 Ntng1 netrin G1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 8917558 Erfe erythroferrone gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1606147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8917558 Erfe erythroferrone gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8917558 Erfe erythroferrone gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606147 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8917558 Erfe erythroferrone gene DOID:1059 intellectual disability ISO RGD:1606147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8917558 Erfe erythroferrone gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1606147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:0070047 Schuurs-Hoeijmakers syndrome ISO RGD:735286 D RGD:7240710 20180130 OMIM 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:0070047 Schuurs-Hoeijmakers syndrome ISO RGD:735286 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Schuurs-Hoeijmakers syndrome PMID:16199547|PMID:17576681|PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396|PMID:9536098 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:735286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:10487 Hirschsprung's disease ISO RGD:735286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:28492532 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:1059 intellectual disability ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:10892 hypospadias ISO RGD:735286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:2746 glycogen storage disease V ISO RGD:735286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:303 substance-related disorder ISO RGD:735286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:3312 bipolar disorder ISO RGD:735286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:5419 schizophrenia ISO RGD:735286 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:630 genetic disease ISO RGD:735286 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396|PMID:9536098 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:735286 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9004108 Fused Kidney ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Horseshoe kidney PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:735286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:988 mitral valve prolapse ISO RGD:735286 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:23159249|PMID:25326635|PMID:25356970|PMID:25522177|PMID:25533962|PMID:25741868|PMID:25741881|PMID:26795593|PMID:26842493|PMID:26944241|PMID:27681385|PMID:28111752|PMID:28135719|PMID:28471432|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28975623|PMID:29550517|PMID:30113927|PMID:30588754|PMID:30690871|PMID:32963807|PMID:34068396 8917569 Pacs1 phosphofurin acidic cluster sorting protein 1 gene DOID:9970 obesity ISO RGD:735286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23563609 8917601 Them6 thioesterase superfamily member 6 gene DOID:630 genetic disease ISO RGD:1602485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917607 Pitpna phosphatidylinositol transfer protein alpha gene DOID:0060357 chylomicron retention disease ISO RGD:1550960 D RGD:9068941 20220825 MouseDO OMIM:246700 8917607 Pitpna phosphatidylinositol transfer protein alpha gene DOID:630 genetic disease ISO RGD:1352423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917623 Trpc4 transient receptor potential cation channel subfamily C member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:733150 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Autism, susceptiblity to PMID:25741868 8917623 Trpc4 transient receptor potential cation channel subfamily C member 4 gene DOID:10283 prostate cancer ISO RGD:733150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8917623 Trpc4 transient receptor potential cation channel subfamily C member 4 gene DOID:1324 lung cancer susceptibility ISO RGD:733150 D RGD:9068941 20220616 RGD DNA:SNPs:: (rs9547991, rs978156) (human) PMID:27617218|REF_RGD_ID:152995362 8917623 Trpc4 transient receptor potential cation channel subfamily C member 4 gene DOID:630 genetic disease ISO RGD:733150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917623 Trpc4 transient receptor potential cation channel subfamily C member 4 gene DOID:9001820 Pulmonary Arterial Hypertension ameliorates ISO XCO:0000010|XCO:0000922 D RGD:9068941 20220210 RGD PMID:24113457|REF_RGD_ID:150429956 8917623 Trpc4 transient receptor potential cation channel subfamily C member 4 gene DOID:9008820 Visceral Pain ISO RGD:621276 D RGD:9068941 20200609 RGD PMID:24388923|REF_RGD_ID:13825245 8917663 Anhx anomalous homeobox gene DOID:630 genetic disease ISO RGD:6483645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917671 Scg3 secretogranin III gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:732003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 8917671 Scg3 secretogranin III gene DOID:2717 Bloom syndrome ISO RGD:732003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8917671 Scg3 secretogranin III gene DOID:5419 schizophrenia ISO RGD:732003 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8917671 Scg3 secretogranin III gene DOID:607 paraplegia ISO RGD:732003 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 8917671 Scg3 secretogranin III gene DOID:630 genetic disease ISO RGD:732003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917671 Scg3 secretogranin III gene DOID:9006646 Metabolic Syndrome ISO RGD:732003 D RGD:9068941 20230622 RGD DNA:SNP: :rs3764220 (human) PMID:21796137|REF_RGD_ID:329853776 8917671 Scg3 secretogranin III gene DOID:9256 colorectal cancer ISO RGD:732003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8917689 Rufy3 RUN and FYVE domain containing 3 gene DOID:37 skin disease ISO RGD:1604831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8917689 Rufy3 RUN and FYVE domain containing 3 gene DOID:630 genetic disease ISO RGD:1604831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917689 Rufy3 RUN and FYVE domain containing 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1604831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:1064 cystinosis ISO RGD:733197 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of | ClinVar Annotator: match by term: Nephropathic cystinosis PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:25741868|PMID:27734949|PMID:9537412|PMID:9792862 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:11054 urinary bladder cancer ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19502594 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:11963 esophagitis ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16091555 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:14566 disease of cellular proliferation ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21349818 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:1936 atherosclerosis ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21908651 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:2548 reflex epilepsy treatment ISO RGD:628841 D RGD:9068941 20200618 RGD PMID:29105300|REF_RGD_ID:13450923 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20144892 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:3613 Canavan disease ISO RGD:733197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:4989 pancreatitis ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17698068 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:5844 myocardial infarction ISO RGD:628841 D RGD:9068941 20200609 RGD PMID:27671317|REF_RGD_ID:13792689 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:6050 esophageal disease ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19566590 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:630 genetic disease ISO RGD:733197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:21546516|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:6364 migraine ISO RGD:733197 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS2+2841C>T rs222741 (human) PMID:22162417|REF_RGD_ID:7175557 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:8545 malignant hyperthermia ISO RGD:733197 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia PMID:25741868 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9000133 Sneezing ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9000641 Pain ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16996476|PMID:17575321|PMID:20422007|PMID:23006841 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043671 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9002211 Hyperalgesia ISO RGD:628841 D RGD:9068941 20200609 RGD associated with inflammation;protein:increased expression:dorsal root ganglion: PMID:21958434|REF_RGD_ID:8657122 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9002211 Hyperalgesia ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151517|PMID:18234885|PMID:18774343|PMID:23006841 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:733197 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:25741868|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9003181 Heartburn ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19566590 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome ISO RGD:733197 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome PMID:10625078|PMID:10673275|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:25741868|PMID:27734949|PMID:9537412|PMID:9792862 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9005372 Inflammation ISO RGD:628841 D RGD:9068941 20200609 RGD protein:increased expression:hindpaw: PMID:21958434|REF_RGD_ID:8657122 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9005372 Inflammation ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17575321|PMID:20712533 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9007073 Cough ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:733197 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:32751388 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:733197 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10625078|PMID:10673275|PMID:10909858|PMID:12110740|PMID:15365816|PMID:18186520|PMID:19863563|PMID:21546516|PMID:25741868|PMID:27102039|PMID:27734949|PMID:28492532|PMID:7668285|PMID:9537412|PMID:9792862 8917734 Trpv1 transient receptor potential cation channel subfamily V member 1 gene DOID:9970 obesity ISO RGD:733197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347480 8917757 LOC102024566 chromosome unknown open reading frame, human C17orf75 gene DOID:630 genetic disease ISO RGD:1602870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917771 Stard6 StAR related lipid transfer domain containing 6 gene DOID:1059 intellectual disability ISO RGD:1351128 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8917771 Stard6 StAR related lipid transfer domain containing 6 gene DOID:630 genetic disease ISO RGD:1351128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917790 Bptf bromodomain PHD finger transcription factor gene DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ISO RGD:1315998 D RGD:7240710 20190315 OMIM 8917790 Bptf bromodomain PHD finger transcription factor gene DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ISO RGD:1315998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28942966|PMID:33522091 8917790 Bptf bromodomain PHD finger transcription factor gene DOID:1059 intellectual disability ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28942966 8917790 Bptf bromodomain PHD finger transcription factor gene DOID:10652 Alzheimer's disease ISO RGD:1315998 D RGD:9068941 20200609 RGD protein:increased expression:microglia: PMID:9792236|REF_RGD_ID:9586059 8917790 Bptf bromodomain PHD finger transcription factor gene DOID:10907 microcephaly ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8917790 Bptf bromodomain PHD finger transcription factor gene DOID:11054 urinary bladder cancer ISO RGD:1315998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 8917790 Bptf bromodomain PHD finger transcription factor gene DOID:12849 autistic disorder ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8917790 Bptf bromodomain PHD finger transcription factor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1315998 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:9225734|REF_RGD_ID:9586057 8917790 Bptf bromodomain PHD finger transcription factor gene DOID:630 genetic disease ISO RGD:1315998 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27452334|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28942966|PMID:33522091 8917790 Bptf bromodomain PHD finger transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8917790 Bptf bromodomain PHD finger transcription factor gene DOID:9008086 Developmental Disabilities ISO RGD:1315998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28942966 8917826 Fam167a family with sequence similarity 167 member A gene DOID:0111109 maturity-onset diabetes of the young type 11 ISO RGD:1344184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 11 PMID:19667185 8917826 Fam167a family with sequence similarity 167 member A gene DOID:630 genetic disease ISO RGD:1344184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917826 Fam167a family with sequence similarity 167 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8917860 Slk STE20 like kinase gene DOID:303 substance-related disorder ISO RGD:733761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8917860 Slk STE20 like kinase gene DOID:630 genetic disease ISO RGD:733761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917860 Slk STE20 like kinase gene DOID:9004009 Reperfusion Injury ISO RGD:3780 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:12965890|REF_RGD_ID:2304069 8917902 Arvcf ARVCF delta catenin family member gene DOID:0060041 autism spectrum disorder ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8917902 Arvcf ARVCF delta catenin family member gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1315392 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8917902 Arvcf ARVCF delta catenin family member gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1315392 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8917902 Arvcf ARVCF delta catenin family member gene DOID:0080600 COVID-19 ISO RGD:1315392 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8917902 Arvcf ARVCF delta catenin family member gene DOID:0111996 immunodeficiency 51 ISO RGD:1315392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8917902 Arvcf ARVCF delta catenin family member gene DOID:1059 intellectual disability ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8917902 Arvcf ARVCF delta catenin family member gene DOID:10907 microcephaly ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8917902 Arvcf ARVCF delta catenin family member gene DOID:11198 DiGeorge syndrome ISO RGD:1315392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8917902 Arvcf ARVCF delta catenin family member gene DOID:11372 megacolon ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8917902 Arvcf ARVCF delta catenin family member gene DOID:12583 velocardiofacial syndrome ISO RGD:1315392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8917902 Arvcf ARVCF delta catenin family member gene DOID:12849 autistic disorder ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8917902 Arvcf ARVCF delta catenin family member gene DOID:12930 dilated cardiomyopathy ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8917902 Arvcf ARVCF delta catenin family member gene DOID:1826 epilepsy ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8917902 Arvcf ARVCF delta catenin family member gene DOID:2213 hemorrhagic disease ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8917902 Arvcf ARVCF delta catenin family member gene DOID:2843 long QT syndrome ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8917902 Arvcf ARVCF delta catenin family member gene DOID:5419 schizophrenia ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8917902 Arvcf ARVCF delta catenin family member gene DOID:612 primary immunodeficiency disease ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8917902 Arvcf ARVCF delta catenin family member gene DOID:630 genetic disease ISO RGD:1315392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917902 Arvcf ARVCF delta catenin family member gene DOID:9003871 Venous Thrombosis ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8917902 Arvcf ARVCF delta catenin family member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8917902 Arvcf ARVCF delta catenin family member gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315392 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8917941 Enah ENAH actin regulator gene DOID:1540 parathyroid carcinoma ISO RGD:1316988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8917941 Enah ENAH actin regulator gene DOID:630 genetic disease ISO RGD:1316988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917941 Enah ENAH actin regulator gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1316988 D RGD:9068941 20230105 RGD mRNA:increased expression:liver (human) PMID:35030977|REF_RGD_ID:155791678 8917941 Enah ENAH actin regulator gene DOID:9119 acute myeloid leukemia ISO RGD:1316988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26237430 8917941 Enah ENAH actin regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8917959 Mien1 migration and invasion enhancer 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1315438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8917959 Mien1 migration and invasion enhancer 1 gene DOID:630 genetic disease ISO RGD:1315438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:620758 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:13580 cholestasis ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:5199 ureteral obstruction ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1347076 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347076 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35841383 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338|PMID:23219715 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338|PMID:24014025 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1347076 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11850205|PMID:24014025 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:9256 colorectal cancer treatment ISO RGD:1347076 D RGD:9068941 20220728 RGD Human cells in mouse model PMID:32682784|REF_RGD_ID:153297782 8917967 Snai1 snail family transcriptional repressor 1 gene DOID:9655 oral mucosa leukoplakia disease_progression ISO RGD:1347076 D RGD:9068941 20220210 RGD PMID:28939076|REF_RGD_ID:151356661 8917974 Ticam2 toll like receptor adaptor molecule 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317929 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8917974 Ticam2 toll like receptor adaptor molecule 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1550939 D RGD:9068941 20220825 MouseDO 8917974 Ticam2 toll like receptor adaptor molecule 2 gene DOID:12849 autistic disorder ISO RGD:1317929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8917974 Ticam2 toll like receptor adaptor molecule 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1317929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 8917974 Ticam2 toll like receptor adaptor molecule 2 gene DOID:9000998 Brain Injuries ISO RGD:1317929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8917974 Ticam2 toll like receptor adaptor molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8917974 Ticam2 toll like receptor adaptor molecule 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317929 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8917975 Abhd18 abhydrolase domain containing 18 gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1604791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 8917975 Abhd18 abhydrolase domain containing 18 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604791 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8917975 Abhd18 abhydrolase domain containing 18 gene DOID:630 genetic disease ISO RGD:1604791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917995 LOC102004559 chromosome unknown open reading frame, human C12orf43 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1603965 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10588527|PMID:23348805|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31517624|PMID:32238361|PMID:32395877|PMID:33046911|PMID:35328643|PMID:35673428|PMID:9626139 8917995 LOC102004559 chromosome unknown open reading frame, human C12orf43 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603965 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25057215 8917995 LOC102004559 chromosome unknown open reading frame, human C12orf43 gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:1603965 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:10333057|PMID:10482964|PMID:10588527|PMID:12488962|PMID:12530534|PMID:22432108|PMID:23348805|PMID:24728327|PMID:25057215|PMID:25414397|PMID:25741868|PMID:26287533|PMID:26467025|PMID:28012402|PMID:28170077|PMID:28410371|PMID:28492532|PMID:31517624|PMID:32238361|PMID:32395877|PMID:32910913|PMID:33046911|PMID:35299962|PMID:35328643|PMID:35673428|PMID:36257325|PMID:9075818|PMID:9392505|PMID:9562352|PMID:9626139 8917995 LOC102004559 chromosome unknown open reading frame, human C12orf43 gene DOID:11714 gestational diabetes ISO RGD:1603965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gestational diabetes PMID:35299962|PMID:9562352 8917995 LOC102004559 chromosome unknown open reading frame, human C12orf43 gene DOID:2394 ovarian cancer ISO RGD:1603965 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10588527|PMID:23348805|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32238361 8917995 LOC102004559 chromosome unknown open reading frame, human C12orf43 gene DOID:630 genetic disease ISO RGD:1603965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8917995 LOC102004559 chromosome unknown open reading frame, human C12orf43 gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:1603965 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive PMID:30561130 8917995 LOC102004559 chromosome unknown open reading frame, human C12orf43 gene DOID:9351 diabetes mellitus ISO RGD:1603965 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10333057|PMID:10482964|PMID:12488962|PMID:12530534|PMID:22432108|PMID:24728327|PMID:25414397|PMID:25741868|PMID:26287533|PMID:26467025|PMID:28012402|PMID:28170077|PMID:28410371|PMID:30561130|PMID:31517624|PMID:32395877|PMID:32910913|PMID:35328643|PMID:35673428|PMID:36257325|PMID:9075818|PMID:9392505 8917995 LOC102004559 chromosome unknown open reading frame, human C12orf43 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603965 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25057215 8917995 LOC102004559 chromosome unknown open reading frame, human C12orf43 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1603965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:25741868 8918010 Nup85 nucleoporin 85 gene DOID:0080392 nephrotic syndrome type 17 ISO RGD:1323659 D RGD:7240710 20190315 OMIM 8918010 Nup85 nucleoporin 85 gene DOID:0080392 nephrotic syndrome type 17 ISO RGD:1323659 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 17 PMID:25741868|PMID:28492532|PMID:30179222 8918010 Nup85 nucleoporin 85 gene DOID:630 genetic disease ISO RGD:1323659 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:0050902 medulloblastoma ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706|PMID:23138228 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:0050902 medulloblastoma disease_progression ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:16314645|REF_RGD_ID:13702096 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:0060224 atrial fibrillation ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:0070284 primary autosomal recessive microcephaly 12 ISO RGD:735400 D RGD:7240710 20180130 OMIM 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:0070284 primary autosomal recessive microcephaly 12 ISO RGD:735400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive PMID:23918663 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:13241 Behcet's disease ISO RGD:735400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Behcet disease 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:1790 malignant mesothelioma ISO RGD:735400 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:2355 anemia ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28255017 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:3068 glioblastoma ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20534551 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:3068 glioblastoma severity ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:10884881|REF_RGD_ID:13702095 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:3070 high grade glioma ISO RGD:735400 D RGD:9068941 20200609 RGD DNA:amplification: PMID:9102208|REF_RGD_ID:13702094 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:3070 high grade glioma severity ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:22736304|REF_RGD_ID:13702093 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:735400 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:24389175|REF_RGD_ID:13782187 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:27874949|REF_RGD_ID:13464321 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735400 D RGD:9068941 20200609 RGD PMID:23591808|REF_RGD_ID:13464324 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:3910 lung adenocarcinoma ISO RGD:735400 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:10574260|REF_RGD_ID:13464325 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:735400 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:25050737|REF_RGD_ID:13782144 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:630 genetic disease ISO RGD:735400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:7148 rheumatoid arthritis ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:7698 non-functioning pancreatic endocrine tumor ISO RGD:735400 D RGD:9068941 20200609 RGD associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) PMID:29149451|REF_RGD_ID:13781946 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:9001341 Chloracne ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:9002777 Brain Stem Neoplasms ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24098593 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:9004814 Chromosome Aberrations ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24736461 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25221644 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:735400 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33727089 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:9007096 Stroke ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:9119 acute myeloid leukemia ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 8918032 Cdk6 cyclin dependent kinase 6 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24736461 8918043 Gpatch8 G-patch domain containing 8 gene DOID:630 genetic disease ISO RGD:1604390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918055 Borcs8 BLOC-1 related complex subunit 8 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:5131351 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 8918055 Borcs8 BLOC-1 related complex subunit 8 gene DOID:630 genetic disease ISO RGD:5131351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918055 Borcs8 BLOC-1 related complex subunit 8 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:5131351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:0050439 Usher syndrome ISO RGD:1316858 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21642631|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28492532|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864|PMID:36909829 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1316858 D RGD:7240710 20180130 OMIM 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1316858 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:10564830|PMID:12118255|PMID:12524598|PMID:12567324|PMID:12677556|PMID:12837689|PMID:12872256|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16582908|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:18669544|PMID:18766993|PMID:19797195|PMID:19858128|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23559858|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25741868|PMID:25780760|PMID:25982971|PMID:25988237|PMID:26261414|PMID:26467025|PMID:26518167|PMID:26566502|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27884173|PMID:27894351|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29191167|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30484961|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31213501|PMID:31534736|PMID:31836858|PMID:31964843|PMID:31997113|PMID:32037395|PMID:32165824|PMID:32349990|PMID:32451492|PMID:32531858|PMID:32552793|PMID:32949114|PMID:33532864|PMID:33594065|PMID:34526762|PMID:34906470|PMID:34940782|PMID:35692835|PMID:35886001|PMID:36460718|PMID:36909829|PMID:9536098 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1316858 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26261414|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34526762|PMID:34906470|PMID:36909829|PMID:9536098 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:1059 intellectual disability ISO RGD:1316858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316858 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10564830|PMID:12118255|PMID:12524598|PMID:12567324|PMID:12677556|PMID:12837689|PMID:12872256|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16786513|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:18669544|PMID:18766993|PMID:19763152|PMID:19797195|PMID:19858128|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20307669|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22406018|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23559858|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25640679|PMID:25741868|PMID:25780760|PMID:25982971|PMID:25988237|PMID:26082521|PMID:26261414|PMID:26467025|PMID:26518167|PMID:26872967|PMID:27032803|PMID:27434533|PMID:27486776|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27884173|PMID:27894351|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28991257|PMID:29099798|PMID:29191167|PMID:29264490|PMID:29588463|PMID:30076350|PMID:30259503|PMID:30614526|PMID:30718709|PMID:31130284|PMID:31196119|PMID:31328266|PMID:31506453|PMID:31534736|PMID:31836858|PMID:31997113|PMID:32037395|PMID:32165824|PMID:32349990|PMID:32451492|PMID:32531858|PMID:32552793|PMID:33169370|PMID:33532864|PMID:33594065|PMID:34526762|PMID:34906470|PMID:35692835|PMID:35835773|PMID:35886001|PMID:36819107|PMID:36909829|PMID:8316268|PMID:9536098 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:2018 hyperinsulinism ISO RGD:1316859 D RGD:9068941 20230420 RGD PMID:33722691|REF_RGD_ID:243065268 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:2746 glycogen storage disease V ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:630 genetic disease ISO RGD:1316858 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25074776|PMID:25326635|PMID:25741868|PMID:25988237|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28341476|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:32349990|PMID:33532864|PMID:33594065|PMID:34526762|PMID:34906470|PMID:35692835|PMID:36909829|PMID:9536098 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:8501 fundus dystrophy ISO RGD:1316858 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15770229|PMID:16199547|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21520335|PMID:21642631|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:25326635|PMID:25741868|PMID:25780760|PMID:26261414|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29264490|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34940782|PMID:36909829|PMID:9536098 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316858 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:9970 obesity ISO RGD:1316859 D RGD:9068941 20220825 MouseDO OMIM:601665 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:9970 obesity ISO RGD:1316859 D RGD:9068941 20230420 RGD PMID:33722691|REF_RGD_ID:243065268 8918067 Bbs1 Bardet-Biedl syndrome 1 gene DOID:9970 obesity no_association ISO RGD:1316858 D RGD:9068941 20200609 RGD DNA:mutation: :p.M390R (human) PMID:14993910|REF_RGD_ID:1601314 8918088 Mtfr1l mitochondrial fission regulator 1 like gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1606533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8918088 Mtfr1l mitochondrial fission regulator 1 like gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1606533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8918088 Mtfr1l mitochondrial fission regulator 1 like gene DOID:630 genetic disease ISO RGD:1606533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918116 Klhdc8b kelch domain containing 8B gene DOID:0060852 Pierson syndrome ISO RGD:1602285 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 8918116 Klhdc8b kelch domain containing 8B gene DOID:630 genetic disease ISO RGD:1602285 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8918116 Klhdc8b kelch domain containing 8B gene DOID:8567 Hodgkin's lymphoma ISO RGD:1602285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:19706467 8918116 Klhdc8b kelch domain containing 8B gene DOID:8567 Hodgkin's lymphoma susceptibility ISO RGD:1602285 D RGD:7240710 20190502 OMIM 8918116 Klhdc8b kelch domain containing 8B gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:2044 drug-induced hepatitis ISO RGD:731582 D RGD:9068941 20200609 RGD protein:increased expression:liver (mouse) PMID:12201952|REF_RGD_ID:10054288 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:620563 D RGD:9068941 20200609 RGD PMID:17173873|REF_RGD_ID:9850154 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:630 genetic disease ISO RGD:731581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620563 D RGD:9068941 20200609 RGD PMID:19000703|REF_RGD_ID:2317680 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:620563 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:17026968|REF_RGD_ID:2317696 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9001916 Fetal Death ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16809448 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:731581 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-2820G>A (rs10980705) (human) PMID:18325907|REF_RGD_ID:10054291 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9004042 Olfaction Disorders ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9006257 Growth Disorders ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11087877 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8918126 Lpar1 lysophosphatidic acid receptor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:731581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8918152 Eid3 EP300 interacting inhibitor of differentiation 3 gene DOID:630 genetic disease ISO RGD:1603793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918156 Hspbap1 HSPB1 associated protein 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1352308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8918156 Hspbap1 HSPB1 associated protein 1 gene DOID:630 genetic disease ISO RGD:1352308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918156 Hspbap1 HSPB1 associated protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1352308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8918156 Hspbap1 HSPB1 associated protein 1 gene DOID:9270 alkaptonuria ISO RGD:1352308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8918170 Il17re interleukin 17 receptor E gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 8918170 Il17re interleukin 17 receptor E gene DOID:2843 long QT syndrome ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8918170 Il17re interleukin 17 receptor E gene DOID:630 genetic disease ISO RGD:1602300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918170 Il17re interleukin 17 receptor E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8918170 Il17re interleukin 17 receptor E gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 8918170 Il17re interleukin 17 receptor E gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1602300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8918194 Cenpc centromere protein C gene DOID:0060218 CREST syndrome ISO RGD:1354407 D RGD:9068941 20200609 RGD associated with Anticentromere antibody positivity PMID:25220385|REF_RGD_ID:27372886 8918194 Cenpc centromere protein C gene DOID:5082 liver cirrhosis ISO RGD:1354407 D RGD:9068941 20200609 RGD associated with Anticentromere antibody positivity PMID:25220385|REF_RGD_ID:27372886 8918194 Cenpc centromere protein C gene DOID:630 genetic disease ISO RGD:1354407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918194 Cenpc centromere protein C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:0060177 homocarnosinosis ISO RGD:1344598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4172777 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1344598 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1344598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:2921 glomerulonephritis ISO RGD:1344598 D RGD:9068941 20200609 RGD PMID:20851293|REF_RGD_ID:7207223 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:630 genetic disease ISO RGD:1344598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1344598 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1344598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:8445 intestinal volvulus ISO RGD:1344598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942768|PMID:21393041|PMID:21573905 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344598 D RGD:9068941 20200609 RGD PMID:21393041|REF_RGD_ID:7207213 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:9003814 Neurologic Manifestations ISO RGD:1344598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4673339 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8918223 Cndp1 carnosine dipeptidase 1 gene DOID:9650 pathologic nystagmus ISO RGD:1344598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 8918248 Tektl1 tektin like 1 gene DOID:630 genetic disease ISO RGD:1602986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918265 Prrc2a proline rich coiled-coil 2A gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8918265 Prrc2a proline rich coiled-coil 2A gene DOID:11372 megacolon ISO RGD:1350670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8918265 Prrc2a proline rich coiled-coil 2A gene DOID:630 genetic disease ISO RGD:1350670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918265 Prrc2a proline rich coiled-coil 2A gene DOID:9004283 Transplant Rejection susceptibility ISO RGD:1350670 D RGD:9068941 20200609 RGD DNA:haplotype: :rs11538264(human) PMID:25111513|REF_RGD_ID:14390152 8918265 Prrc2a proline rich coiled-coil 2A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350670 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15842729|REF_RGD_ID:2306963 8918265 Prrc2a proline rich coiled-coil 2A gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1350670 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:10987645|REF_RGD_ID:2306964 8918307 Ssc4d scavenger receptor cysteine rich family member with 4 domains gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8918307 Ssc4d scavenger receptor cysteine rich family member with 4 domains gene DOID:630 genetic disease ISO RGD:1315886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918307 Ssc4d scavenger receptor cysteine rich family member with 4 domains gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1315886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8918349 Cdkal1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1321035 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17460697|PMID:17463246|PMID:17463248|PMID:17463249|PMID:24760768 8918349 Cdkal1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:11714 gestational diabetes ISO RGD:1321035 D RGD:9068941 20200609 RGD DNA:snp: :rs7756992,rs7754840(human) PMID:19002430|REF_RGD_ID:2313946 8918349 Cdkal1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:13677 SAPHO syndrome ISO RGD:1321035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27936930 8918349 Cdkal1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:630 genetic disease ISO RGD:1321035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918349 Cdkal1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1321035 D RGD:9068941 20231026 RGD DNA:SNP:intron: (rs7756992) (human) PMID:28821857|REF_RGD_ID:401850599 8918349 Cdkal1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9003996 Birth Weight ISO RGD:1321035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 8918349 Cdkal1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9007633 Body Weight ISO RGD:1321035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 8918349 Cdkal1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9351 diabetes mellitus ISO RGD:1321035 D RGD:9068941 20200609 RGD DNA:snp: :rs10946398(human) PMID:19741467|REF_RGD_ID:2313940 8918349 Cdkal1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:17460697|PMID:17463246|PMID:17463248|PMID:17463249|PMID:24760768 8918349 Cdkal1 CDK5 regulatory subunit associated protein 1 like 1 gene DOID:9970 obesity ISO RGD:1321035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0060041 autism spectrum disorder ISO RGD:737237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28492532|PMID:29034068 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:737237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737237 D RGD:7240710 20180130 OMIM 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:737237 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7 | ClinVar Annotator: match by term: Intellectual disability syndrome due to a DYRK1A point mutation PMID:16199547|PMID:17237124|PMID:17576681|PMID:18414213|PMID:21204217|PMID:21294719|PMID:23099646|PMID:23160955|PMID:23512985|PMID:24033266|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25533962|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25741883|PMID:25920557|PMID:25944381|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26795593|PMID:26922654|PMID:27241786|PMID:28053047|PMID:28167836|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28496994|PMID:28708303|PMID:29034068|PMID:29700199|PMID:30831192|PMID:31130284|PMID:31785789|PMID:31803247|PMID:32555303|PMID:32581362|PMID:32860008|PMID:32959227|PMID:33004838|PMID:33624935|PMID:34008892|PMID:34253714|PMID:34345024|PMID:35598272|PMID:9536098 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28053047|PMID:28492532|PMID:29034068|PMID:32581362 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28492532|PMID:32581362|PMID:9536098 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1059 intellectual disability ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28053047|PMID:28492532|PMID:29034068|PMID:32581362|PMID:34345024|PMID:9536098 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:10629 microphthalmia ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:10907 microcephaly ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:11175 enophthalmos ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enophthalmos PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:12930 dilated cardiomyopathy severity ISO RGD:2528 D RGD:9068941 20240118 RGD rat cDNA in mouse model PMID:27056896|REF_RGD_ID:401959209 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome ISO RGD:737237 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:18696092|REF_RGD_ID:14974029 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome ISO RGD:737237 D RGD:9068941 20240104 RGD protein:increased expression:brain (human) PMID:18658135|REF_RGD_ID:401940180 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:14250 Down syndrome treatment ISO RGD:10495 D RGD:9068941 20200609 RGD PMID:23220201|PMID:28647555|REF_RGD_ID:14973377|REF_RGD_ID:14974030 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1591 renovascular hypertension treatment ISO RGD:2528 D RGD:9068941 20240118 RGD PMID:26619200|REF_RGD_ID:401940196 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1793 pancreatic cancer ISO RGD:737237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31838052 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1826 epilepsy ISO RGD:737237 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:25326635|PMID:25741868|PMID:25920557|PMID:28053047|PMID:28191890|PMID:28492532 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:1826 epilepsy ISO RGD:737237 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure | ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532|PMID:29034068|PMID:32581362 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:5844 myocardial infarction treatment ISO RGD:2528 D RGD:9068941 20231221 RGD associated with heart failure; protein:increased expression, increased activity:heart left ventricle (rat) PMID:26067684|REF_RGD_ID:11097969 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:6000 congestive heart failure treatment ISO RGD:2528 D RGD:9068941 20231221 RGD associated with myocardial infarction PMID:26067684|REF_RGD_ID:11097969 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:630 genetic disease ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25730262|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26467025|PMID:26633542|PMID:26795593|PMID:28053047|PMID:28191889|PMID:28191890|PMID:28492532|PMID:28496994|PMID:31785789|PMID:32581362|PMID:33004838|PMID:34345024 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9003936 Cardiomegaly ISO RGD:2528 D RGD:9068941 20240118 RGD protein:decreased expression:heart (rat) PMID:19906449|REF_RGD_ID:401959215 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9003936 Cardiomegaly treatment ISO RGD:2528 D RGD:9068941 20240118 RGD PMID:24524606|PMID:26619200|REF_RGD_ID:401940196|REF_RGD_ID:401959210 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737237 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:737237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:17576681|PMID:24088041|PMID:25326635|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:26795593|PMID:26922654|PMID:27241786|PMID:28053047|PMID:28191889|PMID:28191890|PMID:28492532|PMID:32860008|PMID:33004838|PMID:9536098 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9007 sudden infant death syndrome ISO RGD:737237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9007956 Febrile Seizures susceptibility ISO RGD:10495 D RGD:9068941 20200609 RGD PMID:29223763|REF_RGD_ID:27095962 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9008086 Developmental Disabilities ISO RGD:737237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25741883|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362 8918371 Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A gene DOID:9279 hyperhomocysteinemia ISO RGD:2528 D RGD:9068941 20240118 RGD protein:decreased expression:heart (rat) PMID:19906449|REF_RGD_ID:401959215 8918412 Cd38 CD38 molecule gene DOID:0110980 Joubert syndrome 1 ISO RGD:735841 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8918412 Cd38 CD38 molecule gene DOID:630 genetic disease ISO RGD:735841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918412 Cd38 CD38 molecule gene DOID:9001542 Albuminuria ISO RGD:735841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21992601 8918412 Cd38 CD38 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2303 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:16343077|REF_RGD_ID:2307239 8918412 Cd38 CD38 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8918412 Cd38 CD38 molecule gene DOID:9002165 Diabetic Nephropathies ISO RGD:2303 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19073639|REF_RGD_ID:2307227 8918412 Cd38 CD38 molecule gene DOID:9002165 Diabetic Nephropathies ISO RGD:735841 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:19300526|REF_RGD_ID:2307228 8918412 Cd38 CD38 molecule gene DOID:9003936 Cardiomegaly ISO RGD:2303 D RGD:9068941 20200609 RGD PMID:18719074|REF_RGD_ID:2307236 8918412 Cd38 CD38 molecule gene DOID:9007102 Myocardial Ischemia ISO RGD:2303 D RGD:9068941 20200609 RGD protein:increased activity:ventricle myocardium PMID:12111041|REF_RGD_ID:2307243 8918412 Cd38 CD38 molecule gene DOID:9007102 Myocardial Ischemia ISO RGD:735841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8918412 Cd38 CD38 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:2303 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:7669044|REF_RGD_ID:2307234 8918412 Cd38 CD38 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:735841 D RGD:9068941 20200609 RGD PMID:12242463|REF_RGD_ID:2307232 8918412 Cd38 CD38 molecule gene DOID:9352 type 2 diabetes mellitus ISO RGD:735841 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R140W (human) PMID:9754820|REF_RGD_ID:2307233 8918412 Cd38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:731646 D RGD:9068941 20200609 RGD PMID:16920929|REF_RGD_ID:2307229 8918412 Cd38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:731646 D RGD:9068941 20220825 MouseDO OMIM:222100 8918412 Cd38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:735841 D RGD:9068941 20200609 RGD PMID:16459468|REF_RGD_ID:2307230 8918412 Cd38 CD38 molecule gene DOID:9744 type 1 diabetes mellitus disease_progression ISO RGD:735841 D RGD:9068941 20200609 RGD PMID:12488956|REF_RGD_ID:2307231 8918424 Rarg retinoic acid receptor gamma gene DOID:0060673 Peters anomaly ISO RGD:735465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 8918424 Rarg retinoic acid receptor gamma gene DOID:114 heart disease ISO RGD:735465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26237429 8918424 Rarg retinoic acid receptor gamma gene DOID:630 genetic disease ISO RGD:735465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918424 Rarg retinoic acid receptor gamma gene DOID:674 cleft palate ISO RGD:735465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21807577 8918424 Rarg retinoic acid receptor gamma gene DOID:9002371 Cardiotoxicity ISO RGD:735465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26237429 8918424 Rarg retinoic acid receptor gamma gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:735465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9142499 8918437 Dip2b disco interacting protein 2 homolog B gene DOID:0060041 autism spectrum disorder ISO RGD:1605978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8918437 Dip2b disco interacting protein 2 homolog B gene DOID:0070309 absence epilepsy ISO RGD:1605978 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:25741868 8918437 Dip2b disco interacting protein 2 homolog B gene DOID:630 genetic disease ISO RGD:1605978 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8918437 Dip2b disco interacting protein 2 homolog B gene DOID:9005790 Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type ISO RGD:1605978 D RGD:7240710 20180130 OMIM 8918437 Dip2b disco interacting protein 2 homolog B gene DOID:9005790 Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type ISO RGD:1605978 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability, FRA12A type PMID:17236128|PMID:25741868 8918437 Dip2b disco interacting protein 2 homolog B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1605978 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 8918482 Tex26 testis expressed 26 gene DOID:630 genetic disease ISO RGD:1603922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918502 Kiaa0319l KIAA0319 like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8918502 Kiaa0319l KIAA0319 like gene DOID:630 genetic disease ISO RGD:1605339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918535 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:1303230|PMID:1677316|PMID:1822787|PMID:28492532 8918535 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1351857 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome PMID:12439896|PMID:18698610|PMID:21670407|PMID:7825607|PMID:8422677|PMID:8541860 8918535 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 8918535 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:1351857 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Tomaculous neuropathy PMID:12439896|PMID:18698610|PMID:21670407|PMID:7825607|PMID:8422677|PMID:8541860 8918535 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 8918535 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:12849 autistic disorder ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8918535 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:5419 schizophrenia ISO RGD:1351857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8918535 Cdrt4 CMT1A duplicated region transcript 4 gene DOID:630 genetic disease ISO RGD:1351857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918547 Ano1 anoctamin 1 gene DOID:1059 intellectual disability ISO RGD:1321890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8918547 Ano1 anoctamin 1 gene DOID:630 genetic disease ISO RGD:1321890 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:37253099 8918547 Ano1 anoctamin 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1321890 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8918547 Ano1 anoctamin 1 gene DOID:9005419 Moyamoya Disease 7 ISO RGD:1321890 D RGD:7240710 20240207 OMIM 8918547 Ano1 anoctamin 1 gene DOID:9005419 Moyamoya Disease 7 ISO RGD:1321890 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Moyamoya disease 7 PMID:37253099 8918547 Ano1 anoctamin 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1321890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8918609 Cnfn cornifelin gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8918609 Cnfn cornifelin gene DOID:1342 congenital hypoplastic anemia ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8918609 Cnfn cornifelin gene DOID:2340 craniosynostosis ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8918609 Cnfn cornifelin gene DOID:5419 schizophrenia ISO RGD:1350274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8918609 Cnfn cornifelin gene DOID:630 genetic disease ISO RGD:1350274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918609 Cnfn cornifelin gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8918609 Cnfn cornifelin gene DOID:9269 maple syrup urine disease ISO RGD:1350274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8918624 Drg2 developmentally regulated GTP binding protein 2 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1343223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8918624 Drg2 developmentally regulated GTP binding protein 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1343223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8918624 Drg2 developmentally regulated GTP binding protein 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1343223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8918624 Drg2 developmentally regulated GTP binding protein 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343223 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8918624 Drg2 developmentally regulated GTP binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1343223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8918624 Drg2 developmentally regulated GTP binding protein 2 gene DOID:630 genetic disease ISO RGD:1343223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1351526 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35534561 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:106 pleural tuberculosis ISO RGD:1351526 D RGD:9068941 20200609 RGD PMID:20337996|REF_RGD_ID:4891473 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:1324 lung cancer disease_progression ISO RGD:1351526 D RGD:9068941 20200609 RGD PMID:16453150|REF_RGD_ID:4891472 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:2799 bronchiolitis obliterans ISO RGD:1351526 D RGD:9068941 20200609 RGD PMID:20628341|REF_RGD_ID:4891471 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:1351526 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion PMID:18684970|REF_RGD_ID:4145489 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:1551080 D RGD:9068941 20200609 RGD PMID:10384142|REF_RGD_ID:4891475 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:1551080 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:18316417|REF_RGD_ID:4891474 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:2841 asthma ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:289 endometriosis ISO RGD:1351526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351526 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion PMID:18684970|REF_RGD_ID:4145489 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:3310 atopic dermatitis ISO RGD:1351526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437|PMID:22125604 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1351526 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:3770 pulmonary fibrosis ISO RGD:1351526 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19715610|REF_RGD_ID:4145488 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:3770 pulmonary fibrosis ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:4483 rhinitis ISO RGD:1351526 D RGD:9068941 20200609 RGD protein:increased expression:blood, mononuclear cell PMID:17517104|REF_RGD_ID:4145498 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:12651599|REF_RGD_ID:2306306 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:552 pneumonia ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:630 genetic disease ISO RGD:1351526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:7148 rheumatoid arthritis ISO RGD:1351526 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19942450|REF_RGD_ID:10054497 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:8398 osteoarthritis ISO RGD:1351526 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19942450|REF_RGD_ID:10054497 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:9000641 Pain ISO RGD:619933 D RGD:9068941 20200609 RGD PMID:11438578|REF_RGD_ID:2306307 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1551080 D RGD:9068941 20200609 RGD associated with Mycobacterium Infections PMID:12600821|REF_RGD_ID:4145441 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1551080 D RGD:9068941 20200609 RGD associated with Schistosomiasis mansoni PMID:15466387|REF_RGD_ID:4145515 8918654 Ccl22 C-C motif chemokine ligand 22 gene DOID:9008604 Radiation Pneumonitis ISO RGD:619933 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, alveolar macrophage PMID:15293604|REF_RGD_ID:4145517 8918707 Popdc3 popeye domain containing 3 gene DOID:630 genetic disease ISO RGD:1343916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918707 Popdc3 popeye domain containing 3 gene DOID:9002441 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 ISO RGD:1343916 D RGD:7240710 20200429 OMIM 8918707 Popdc3 popeye domain containing 3 gene DOID:9002441 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 ISO RGD:1343916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 26 PMID:31610034 8918722 CUNH1orf159 chromosome unknown C1orf159 homolog gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8918722 CUNH1orf159 chromosome unknown C1orf159 homolog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8918722 CUNH1orf159 chromosome unknown C1orf159 homolog gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8918722 CUNH1orf159 chromosome unknown C1orf159 homolog gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8918722 CUNH1orf159 chromosome unknown C1orf159 homolog gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8918722 CUNH1orf159 chromosome unknown C1orf159 homolog gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8918722 CUNH1orf159 chromosome unknown C1orf159 homolog gene DOID:0111934 immunodeficiency 38 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8918722 CUNH1orf159 chromosome unknown C1orf159 homolog gene DOID:0111935 immunodeficiency 16 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8918722 CUNH1orf159 chromosome unknown C1orf159 homolog gene DOID:630 genetic disease ISO RGD:1606269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918722 CUNH1orf159 chromosome unknown C1orf159 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8918722 CUNH1orf159 chromosome unknown C1orf159 homolog gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8918722 CUNH1orf159 chromosome unknown C1orf159 homolog gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8918766 Spc25 SPC25 component of NDC80 kinetochore complex gene DOID:630 genetic disease ISO RGD:1606531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918766 Spc25 SPC25 component of NDC80 kinetochore complex gene DOID:684 hepatocellular carcinoma ISO RGD:1606531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8918779 Pdxk pyridoxal kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621324 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:3225873|REF_RGD_ID:2303021 8918811 Ckap5 cytoskeleton associated protein 5 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1605408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8918811 Ckap5 cytoskeleton associated protein 5 gene DOID:10283 prostate cancer ISO RGD:1605408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8918811 Ckap5 cytoskeleton associated protein 5 gene DOID:1059 intellectual disability ISO RGD:1605408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8918811 Ckap5 cytoskeleton associated protein 5 gene DOID:630 genetic disease ISO RGD:1605408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918811 Ckap5 cytoskeleton associated protein 5 gene DOID:9003882 Chromosomal Instability ISO RGD:1605408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 8918811 Ckap5 cytoskeleton associated protein 5 gene DOID:9008692 Aneuploidy ISO RGD:1605408 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24976383 8918858 Rsf1 remodeling and spacing factor 1 gene DOID:1059 intellectual disability ISO RGD:1322599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8918858 Rsf1 remodeling and spacing factor 1 gene DOID:630 genetic disease ISO RGD:1322599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918902 Ldlrad3 low density lipoprotein receptor class A domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1605868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8918902 Ldlrad3 low density lipoprotein receptor class A domain containing 3 gene DOID:303 substance-related disorder ISO RGD:1605868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8918902 Ldlrad3 low density lipoprotein receptor class A domain containing 3 gene DOID:630 genetic disease ISO RGD:1605868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918912 Slc32a1 solute carrier family 32 member 1 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:1346344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 8918912 Slc32a1 solute carrier family 32 member 1 gene DOID:1826 epilepsy ISO RGD:1346344 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8918912 Slc32a1 solute carrier family 32 member 1 gene DOID:2234 focal epilepsy ISO RGD:1346344 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8918912 Slc32a1 solute carrier family 32 member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1553492 D RGD:9068941 20220825 MouseDO 8918912 Slc32a1 solute carrier family 32 member 1 gene DOID:630 genetic disease ISO RGD:1346344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918912 Slc32a1 solute carrier family 32 member 1 gene DOID:9007852 Generalized Epilepsy with Febrile Seizures Plus, Type 12 ISO RGD:1346344 D RGD:7240710 20240320 OMIM 8918912 Slc32a1 solute carrier family 32 member 1 gene DOID:9970 obesity ISO RGD:1346344 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 8918918 Elk4 ETS transcription factor ELK4 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8918918 Elk4 ETS transcription factor ELK4 gene DOID:12849 autistic disorder ISO RGD:1321444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8918918 Elk4 ETS transcription factor ELK4 gene DOID:1540 parathyroid carcinoma ISO RGD:1321444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8918918 Elk4 ETS transcription factor ELK4 gene DOID:630 genetic disease ISO RGD:1321444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918918 Elk4 ETS transcription factor ELK4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321444 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8918918 Elk4 ETS transcription factor ELK4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8918931 Hook1 hook microtubule tethering protein 1 gene DOID:1059 intellectual disability ISO RGD:1320626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8918931 Hook1 hook microtubule tethering protein 1 gene DOID:630 genetic disease ISO RGD:1320626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918958 Serpini1 serpin family I member 1 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:731505 D RGD:7240710 20180130 OMIM 8918958 Serpini1 serpin family I member 1 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:731505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies PMID:11138927|PMID:11880376|PMID:12103288|PMID:15090543|PMID:17576681|PMID:18591508|PMID:18940798|PMID:19549782|PMID:21435071|PMID:23814041|PMID:25401298|PMID:25741868|PMID:26367528|PMID:26467025|PMID:28363799|PMID:28492532|PMID:28518168|PMID:28631894|PMID:29249370|PMID:32461654|PMID:9536098 8918958 Serpini1 serpin family I member 1 gene DOID:0060669 cerebral cavernous malformation ISO RGD:731505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 8918958 Serpini1 serpin family I member 1 gene DOID:0060671 cerebral cavernous malformation 3 ISO RGD:731505 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 3 8918958 Serpini1 serpin family I member 1 gene DOID:630 genetic disease ISO RGD:731505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28518168|PMID:32461654 8918958 Serpini1 serpin family I member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 8918958 Serpini1 serpin family I member 1 gene DOID:9006534 Nervous System Malformations ISO RGD:731505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:12103288|PMID:18591508|PMID:18940798|PMID:19549782|PMID:23814041|PMID:25401298|PMID:25741868|PMID:26367528|PMID:28363799|PMID:28492532|PMID:28631894 8918972 Rexo2 RNA exonuclease 2 gene DOID:1059 intellectual disability ISO RGD:1603665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8918972 Rexo2 RNA exonuclease 2 gene DOID:630 genetic disease ISO RGD:1603665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918972 Rexo2 RNA exonuclease 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8918988 Stx17 syntaxin 17 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8918988 Stx17 syntaxin 17 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8918988 Stx17 syntaxin 17 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8918988 Stx17 syntaxin 17 gene DOID:1059 intellectual disability ISO RGD:1352651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8918988 Stx17 syntaxin 17 gene DOID:12712 nephronophthisis ISO RGD:1352651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8918988 Stx17 syntaxin 17 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8918988 Stx17 syntaxin 17 gene DOID:1909 melanoma ISO RGD:1352651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18641652 8918988 Stx17 syntaxin 17 gene DOID:630 genetic disease ISO RGD:1352651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8918988 Stx17 syntaxin 17 gene DOID:986 alopecia areata ISO RGD:1352651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 8919008 Rassf10 Ras association domain family member 10 gene DOID:1059 intellectual disability ISO RGD:2290196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8919008 Rassf10 Ras association domain family member 10 gene DOID:630 genetic disease ISO RGD:2290196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919013 Hid1 HID1 domain containing gene DOID:0070391 developmental and epileptic encephalopathy 105 ISO RGD:1322878 D RGD:7240710 20220810 OMIM 8919013 Hid1 HID1 domain containing gene DOID:0070391 developmental and epileptic encephalopathy 105 ISO RGD:1322878 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 105 with hypopituitarism PMID:28600779|PMID:33999436 8919013 Hid1 HID1 domain containing gene DOID:630 genetic disease ISO RGD:1322878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28600779 8919052 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:1059 intellectual disability ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8919052 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:13501 Moebius syndrome ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 8919052 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:5419 schizophrenia ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8919052 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23545411|PMID:25741868|PMID:27334371|PMID:27389779|PMID:28492532|PMID:29807643 8919052 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1349400 D RGD:7240710 20190315 OMIM 8919052 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9000211 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language PMID:23545411|PMID:25741868|PMID:27389779|PMID:28492532|PMID:29807643 8919052 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8919052 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:1349400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:23545411|PMID:25741868|PMID:27389779 8919052 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8919052 Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 gene DOID:9008582 Developmental Disease ISO RGD:1349400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8919091 Steap1 STEAP family member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8919091 Steap1 STEAP family member 1 gene DOID:630 genetic disease ISO RGD:1323057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919106 Mxra7 matrix remodeling associated 7 gene DOID:630 genetic disease ISO RGD:1348883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:0060075 estrogen-receptor positive breast cancer ISO RGD:1347348 D RGD:9068941 20220804 RGD DNA:hypermethylation: PMID:25620615|REF_RGD_ID:153298970 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:1612 breast cancer exacerbates ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:19549921|REF_RGD_ID:153298911 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1347348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1347348 D RGD:9068941 20220728 RGD DNA:hypermethylation:CpG island PMID:19549921|REF_RGD_ID:153298911 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:3459 breast carcinoma ISO RGD:1347348 D RGD:9068941 20220728 RGD protein:increased expression:breast PMID:29882245|REF_RGD_ID:153297792 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:3571 liver cancer ISO RGD:1347348 D RGD:9068941 20220728 RGD mRNA:increased expression:liver PMID:32782619|REF_RGD_ID:153297784 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347348 D RGD:9068941 20220728 RGD DNA:hypermethylation:promoter PMID:21429053|REF_RGD_ID:153298914 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:22354764|REF_RGD_ID:153297789 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma ISO RGD:1347348 D RGD:9068941 20220728 RGD protein:increased expression:lung PMID:29882245|REF_RGD_ID:153297792 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:30190423|REF_RGD_ID:153297795 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:26800504|REF_RGD_ID:11531771 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:20112342|REF_RGD_ID:153297794 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:630 genetic disease ISO RGD:1347348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:7596 asbestos-related lung carcinoma ISO RGD:1347348 D RGD:9068941 20220728 RGD associated with lung adenocarcinoma ;mRNA:increased expression:lung PMID:20544843|REF_RGD_ID:153298907 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1347348 D RGD:9068941 20220804 RGD associated with breast cancer;DNA:hypermethylation: PMID:25620615|REF_RGD_ID:153298970 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:9005172 Lung Neoplasms ISO RGD:1347348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20544843 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1347348 D RGD:9068941 20220728 RGD associated with lung adenocarcinoma; PMID:26800504|REF_RGD_ID:11531771 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:9009121 lung metastasis ameliorates ISO RGD:1347348 D RGD:9068941 20220728 RGD associated with lung carcinoma, breast carcinoma PMID:22636800|REF_RGD_ID:153297785 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:9256 colorectal cancer ISO RGD:1347348 D RGD:9068941 20220728 RGD mRNA,protein:decreased expression:colorectum PMID:27661126|REF_RGD_ID:153298906 8919122 Adam28 ADAM metallopeptidase domain 28 gene DOID:9256 colorectal cancer severity ISO RGD:1347348 D RGD:9068941 20220728 RGD PMID:31565100|REF_RGD_ID:153298908 8919161 Polr3c RNA polymerase III subunit C gene DOID:1227 neutropenia ISO RGD:1323060 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 8919161 Polr3c RNA polymerase III subunit C gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1323060 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 8919161 Polr3c RNA polymerase III subunit C gene DOID:1540 parathyroid carcinoma ISO RGD:1323060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8919161 Polr3c RNA polymerase III subunit C gene DOID:5419 schizophrenia ISO RGD:1323060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8919161 Polr3c RNA polymerase III subunit C gene DOID:630 genetic disease ISO RGD:1323060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919161 Polr3c RNA polymerase III subunit C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323060 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8919179 Tox3 TOX high mobility group box family member 3 gene DOID:630 genetic disease ISO RGD:1323035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919179 Tox3 TOX high mobility group box family member 3 gene DOID:9000357 Male Breast Neoplasms ISO RGD:1323035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23001122 8919179 Tox3 TOX high mobility group box family member 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1323035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8919179 Tox3 TOX high mobility group box family member 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1323035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17529967 8919194 Abhd11 abhydrolase domain containing 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8919194 Abhd11 abhydrolase domain containing 11 gene DOID:12849 autistic disorder ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8919194 Abhd11 abhydrolase domain containing 11 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1606493 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8919194 Abhd11 abhydrolase domain containing 11 gene DOID:1929 supravalvular aortic stenosis ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 8919194 Abhd11 abhydrolase domain containing 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8919194 Abhd11 abhydrolase domain containing 11 gene DOID:5419 schizophrenia ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8919194 Abhd11 abhydrolase domain containing 11 gene DOID:630 genetic disease ISO RGD:1606493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919194 Abhd11 abhydrolase domain containing 11 gene DOID:8445 intestinal volvulus ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8919194 Abhd11 abhydrolase domain containing 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8919194 Abhd11 abhydrolase domain containing 11 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8919204 Cldn7 claudin 7 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:68646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8919204 Cldn7 claudin 7 gene DOID:0080600 COVID-19 ISO RGD:68646 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8919204 Cldn7 claudin 7 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:68646 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8919204 Cldn7 claudin 7 gene DOID:1059 intellectual disability ISO RGD:68646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8919204 Cldn7 claudin 7 gene DOID:12177 common variable immunodeficiency ISO RGD:68646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8919204 Cldn7 claudin 7 gene DOID:2729 dyskeratosis congenita ISO RGD:68646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8919204 Cldn7 claudin 7 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:68646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8919204 Cldn7 claudin 7 gene DOID:4001 ovarian carcinoma ISO RGD:68646 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:21134740 8919204 Cldn7 claudin 7 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:68646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8919204 Cldn7 claudin 7 gene DOID:4481 allergic rhinitis ISO RGD:68646 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:33441633 8919204 Cldn7 claudin 7 gene DOID:630 genetic disease ISO RGD:68646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919204 Cldn7 claudin 7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68432 D RGD:9068941 20200609 RGD PMID:23390083|REF_RGD_ID:9685143 8919204 Cldn7 claudin 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8919221 Kif4a kinesin family member 4A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8919221 Kif4a kinesin family member 4A gene DOID:0070338 cerebellar hypoplasia ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 8919221 Kif4a kinesin family member 4A gene DOID:0080600 COVID-19 ISO RGD:1342700 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8919221 Kif4a kinesin family member 4A gene DOID:0112040 non-syndromic X-linked intellectual disability 100 ISO RGD:1342700 D RGD:7240710 20180130 OMIM 8919221 Kif4a kinesin family member 4A gene DOID:0112040 non-syndromic X-linked intellectual disability 100 ISO RGD:1342700 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 100 PMID:24812067|PMID:25741868|PMID:28492532|PMID:34346154 8919221 Kif4a kinesin family member 4A gene DOID:1059 intellectual disability ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 8919221 Kif4a kinesin family member 4A gene DOID:12849 autistic disorder ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8919221 Kif4a kinesin family member 4A gene DOID:1826 epilepsy ISO RGD:1342700 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8919221 Kif4a kinesin family member 4A gene DOID:630 genetic disease ISO RGD:1342700 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8919221 Kif4a kinesin family member 4A gene DOID:684 hepatocellular carcinoma ISO RGD:1342700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8919221 Kif4a kinesin family member 4A gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:31474318 8919221 Kif4a kinesin family member 4A gene DOID:9004617 Taurodontism, Microdontia, and Dens Invaginatus ISO RGD:1342700 D RGD:7240710 20230927 OMIM 8919221 Kif4a kinesin family member 4A gene DOID:9004617 Taurodontism, Microdontia, and Dens Invaginatus ISO RGD:1342700 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: KIF4A-related condition | ClinVar Annotator: match by term: Taurodontism, microdontia, and dens invaginatus PMID:25741868|PMID:271276|PMID:31616463 8919221 Kif4a kinesin family member 4A gene DOID:9970 obesity ISO RGD:1342700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 8919256 Jchain joining chain of multimeric IgA and IgM gene DOID:0080600 COVID-19 ISO RGD:1320892 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8919256 Jchain joining chain of multimeric IgA and IgM gene DOID:630 genetic disease ISO RGD:1320892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919274 Cdc26 cell division cycle 26 gene DOID:630 genetic disease ISO RGD:1322746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919299 Tacc1 transforming acidic coiled-coil containing protein 1 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1342908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8919299 Tacc1 transforming acidic coiled-coil containing protein 1 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1342908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8919299 Tacc1 transforming acidic coiled-coil containing protein 1 gene DOID:1826 epilepsy ISO RGD:1342908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8919299 Tacc1 transforming acidic coiled-coil containing protein 1 gene DOID:607 paraplegia ISO RGD:1342908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8919299 Tacc1 transforming acidic coiled-coil containing protein 1 gene DOID:630 genetic disease ISO RGD:1342908 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8919326 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1316086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 8919326 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1316086 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:25741868 8919326 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:0070295 primary autosomal dominant microcephaly 18 ISO RGD:1316086 D RGD:7240710 20190315 OMIM 8919326 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:0070295 primary autosomal dominant microcephaly 18 ISO RGD:1316086 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant | ClinVar Annotator: match by term: WDFY3-related condition PMID:25741868|PMID:27008544|PMID:28492532|PMID:31327001 8919326 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:10283 prostate cancer ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8919326 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8919326 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:10907 microcephaly ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8919326 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1316086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8919326 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:630 genetic disease ISO RGD:1316086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32641753 8919326 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:9003816 Macrocephaly ISO RGD:1316086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:31327001 8919326 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27008544|PMID:31327001 8919326 Wdfy3 WD repeat and FYVE domain containing 3 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1316086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8919405 Tbr1 T-box brain transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1557526 D RGD:9068941 20220825 MouseDO 8919405 Tbr1 T-box brain transcription factor 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortical dysplasia PMID:25741868 8919405 Tbr1 T-box brain transcription factor 1 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gait disturbance PMID:25741868 8919405 Tbr1 T-box brain transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8919405 Tbr1 T-box brain transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 8919405 Tbr1 T-box brain transcription factor 1 gene DOID:1826 epilepsy ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8919405 Tbr1 T-box brain transcription factor 1 gene DOID:630 genetic disease ISO RGD:1343708 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8919405 Tbr1 T-box brain transcription factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8919405 Tbr1 T-box brain transcription factor 1 gene DOID:9004695 Intellectual Developmental Disorder with Autism and Speech Delay ISO RGD:1343708 D RGD:7240710 20210224 OMIM 8919405 Tbr1 T-box brain transcription factor 1 gene DOID:9004695 Intellectual Developmental Disorder with Autism and Speech Delay ISO RGD:1343708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTS5 | ClinVar Annotator: match by term: Autism, susceptibility to, 5 PMID:11353400|PMID:25232744|PMID:25741868|PMID:28492532|PMID:30250039 8919405 Tbr1 T-box brain transcription factor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868 8919405 Tbr1 T-box brain transcription factor 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1343708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8919417 Tnnc2 troponin C2, fast skeletal type gene DOID:0081347 congenital myopathy 15 ISO RGD:1323707 D RGD:7240710 20230301 OMIM 8919417 Tnnc2 troponin C2, fast skeletal type gene DOID:0081347 congenital myopathy 15 ISO RGD:1323707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myopathy 15 PMID:33755597 8919417 Tnnc2 troponin C2, fast skeletal type gene DOID:2234 focal epilepsy ISO RGD:1323707 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8919417 Tnnc2 troponin C2, fast skeletal type gene DOID:630 genetic disease ISO RGD:1323707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919417 Tnnc2 troponin C2, fast skeletal type gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1323707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8919443 Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1605997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 8919443 Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1605997 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8919443 Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:1059 intellectual disability ISO RGD:1605997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8919443 Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 gene DOID:630 genetic disease ISO RGD:1605997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321645 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321645 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1321645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321645 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0080600 COVID-19 ISO RGD:1321645 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1321645 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:1826 epilepsy ISO RGD:1321645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:3652 Leigh disease ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:630 genetic disease ISO RGD:1321645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919457 Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8919477 Prorp protein only RNase P catalytic subunit gene DOID:0070427 combined oxidative phosphorylation deficiency 54 ISO RGD:1312913 D RGD:7240710 20220223 OMIM 8919477 Prorp protein only RNase P catalytic subunit gene DOID:0070427 combined oxidative phosphorylation deficiency 54 ISO RGD:1312913 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 54 PMID:25741868 8919477 Prorp protein only RNase P catalytic subunit gene DOID:0081079 ectodermal dysplasia and immunodeficiency 2 ISO RGD:1312913 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 PMID:28492532 8919477 Prorp protein only RNase P catalytic subunit gene DOID:0111921 spermatogenic failure 36 ISO RGD:1312913 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 36 PMID:25741868 8919477 Prorp protein only RNase P catalytic subunit gene DOID:630 genetic disease ISO RGD:1312913 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919477 Prorp protein only RNase P catalytic subunit gene DOID:9002447 Myoectodermal Gonadal Dysgenesis Syndrome ISO RGD:1312913 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy PMID:25741868 8919477 Prorp protein only RNase P catalytic subunit gene DOID:9002704 Leukoencephalopathies ISO RGD:1312913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy 8919477 Prorp protein only RNase P catalytic subunit gene DOID:9003326 Perrault Syndrome 1 ISO RGD:1312913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 8919477 Prorp protein only RNase P catalytic subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1312913 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8919477 Prorp protein only RNase P catalytic subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1312913 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8919494 Iyd iodotyrosine deiodinase gene DOID:0050328 congenital hypothyroidism ISO RGD:1345868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism 8919494 Iyd iodotyrosine deiodinase gene DOID:0112188 thyroid dyshormonogenesis 4 ISO RGD:1345868 D RGD:7240710 20180130 OMIM 8919494 Iyd iodotyrosine deiodinase gene DOID:0112188 thyroid dyshormonogenesis 4 ISO RGD:1345868 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: DEIODINASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 4 PMID:13183981|PMID:13333116|PMID:18434651|PMID:18765512|PMID:25741868|PMID:28492532|PMID:36633921 8919494 Iyd iodotyrosine deiodinase gene DOID:630 genetic disease ISO RGD:1345868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:13183981|PMID:13333116|PMID:18434651|PMID:25741868|PMID:28106320|PMID:28492532 8919494 Iyd iodotyrosine deiodinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8919508 Colec10 collectin subfamily member 10 gene DOID:0060577 3MC syndrome 3 ISO RGD:1316172 D RGD:7240710 20190315 OMIM 8919508 Colec10 collectin subfamily member 10 gene DOID:0060577 3MC syndrome 3 ISO RGD:1316172 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: 3MC syndrome 3 PMID:25741868|PMID:28301481 8919508 Colec10 collectin subfamily member 10 gene DOID:0081368 Paget's disease of bone 5 ISO RGD:1316172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease PMID:106682|PMID:12124406 8919508 Colec10 collectin subfamily member 10 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1316172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8919508 Colec10 collectin subfamily member 10 gene DOID:206 hereditary multiple exostoses ISO RGD:1316172 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 8919508 Colec10 collectin subfamily member 10 gene DOID:630 genetic disease ISO RGD:1316172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919508 Colec10 collectin subfamily member 10 gene DOID:684 hepatocellular carcinoma ISO RGD:1316172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8919518 Fam107a family with sequence similarity 107 member A gene DOID:3070 high grade glioma ISO RGD:1605094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 8919518 Fam107a family with sequence similarity 107 member A gene DOID:630 genetic disease ISO RGD:1605094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919529 Krt80 keratin 80 gene DOID:630 genetic disease ISO RGD:1606454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919542 Cers6 ceramide synthase 6 gene DOID:0080600 COVID-19 ISO RGD:1343383 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8919542 Cers6 ceramide synthase 6 gene DOID:303 substance-related disorder ISO RGD:1343383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8919542 Cers6 ceramide synthase 6 gene DOID:630 genetic disease ISO RGD:1343383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919558 Abcf2 ATP binding cassette subfamily F member 2 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1312673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8919558 Abcf2 ATP binding cassette subfamily F member 2 gene DOID:2843 long QT syndrome ISO RGD:1312673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8919558 Abcf2 ATP binding cassette subfamily F member 2 gene DOID:630 genetic disease ISO RGD:1312673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919558 Abcf2 ATP binding cassette subfamily F member 2 gene DOID:9000918 Disease Progression ISO RGD:1312673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8919582 Atp5f1c ATP synthase F1 subunit gamma gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:732616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8919582 Atp5f1c ATP synthase F1 subunit gamma gene DOID:0080600 COVID-19 ISO RGD:732616 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8919582 Atp5f1c ATP synthase F1 subunit gamma gene DOID:5419 schizophrenia ISO RGD:620011 D RGD:9068941 20210806 RGD mRNA:increased expression:prefrontal cortex (rat) PMID:30142370|REF_RGD_ID:13792655 8919582 Atp5f1c ATP synthase F1 subunit gamma gene DOID:630 genetic disease ISO RGD:732616 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919582 Atp5f1c ATP synthase F1 subunit gamma gene DOID:9970 obesity ISO RGD:732616 D RGD:9068941 20200609 RGD PMID:19549744|REF_RGD_ID:14696798 8919601 Apobec2 apolipoprotein B mRNA editing enzyme catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:1318670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919609 Rpl13 ribosomal protein L13 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8919609 Rpl13 ribosomal protein L13 gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:732066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia PMID:23956136|PMID:25741868|PMID:31630789 8919609 Rpl13 ribosomal protein L13 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:732066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8919609 Rpl13 ribosomal protein L13 gene DOID:13636 Fanconi anemia ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8919609 Rpl13 ribosomal protein L13 gene DOID:14780 KBG syndrome ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 8919609 Rpl13 ribosomal protein L13 gene DOID:630 genetic disease ISO RGD:732066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919609 Rpl13 ribosomal protein L13 gene DOID:9000217 Stomach Neoplasms ISO RGD:732066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8919609 Rpl13 ribosomal protein L13 gene DOID:9000918 Disease Progression ISO RGD:732066 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8919609 Rpl13 ribosomal protein L13 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:732066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8919609 Rpl13 ribosomal protein L13 gene DOID:9006652 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type ISO RGD:732066 D RGD:7240710 20200226 OMIM 8919609 Rpl13 ribosomal protein L13 gene DOID:9006652 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type ISO RGD:732066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type PMID:23956136|PMID:25741868|PMID:28492532|PMID:31630789 8919619 Cep120 centrosomal protein 120 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1601819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8919619 Cep120 centrosomal protein 120 gene DOID:0080277 Joubert syndrome 31 ISO RGD:1601819 D RGD:7240710 20190315 OMIM 8919619 Cep120 centrosomal protein 120 gene DOID:0080277 Joubert syndrome 31 ISO RGD:1601819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 31 PMID:17576681|PMID:25741868|PMID:27208211|PMID:28492532|PMID:9536098 8919619 Cep120 centrosomal protein 120 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8919619 Cep120 centrosomal protein 120 gene DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly ISO RGD:1601819 D RGD:7240710 20180130 OMIM 8919619 Cep120 centrosomal protein 120 gene DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly ISO RGD:1601819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly PMID:16199547|PMID:17576681|PMID:25251415|PMID:25361962|PMID:25741868|PMID:27208211|PMID:28492532|PMID:29847808|PMID:30866059|PMID:30988386|PMID:9536098 8919619 Cep120 centrosomal protein 120 gene DOID:630 genetic disease ISO RGD:1601819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8919619 Cep120 centrosomal protein 120 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8919619 Cep120 centrosomal protein 120 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8919651 Eps8l3 EPS8 signaling adaptor L3 gene DOID:0110702 hypotrichosis 5 ISO RGD:1318007 D RGD:7240710 20200408 OMIM 8919651 Eps8l3 EPS8 signaling adaptor L3 gene DOID:0110702 hypotrichosis 5 ISO RGD:1318007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 5 PMID:15347323|PMID:23099647|PMID:25741868 8919651 Eps8l3 EPS8 signaling adaptor L3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1318007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8919651 Eps8l3 EPS8 signaling adaptor L3 gene DOID:12849 autistic disorder ISO RGD:1318007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8919651 Eps8l3 EPS8 signaling adaptor L3 gene DOID:630 genetic disease ISO RGD:1318007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919651 Eps8l3 EPS8 signaling adaptor L3 gene DOID:684 hepatocellular carcinoma ISO RGD:1318007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8919651 Eps8l3 EPS8 signaling adaptor L3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223546 8919683 Edc3 enhancer of mRNA decapping 3 gene DOID:0081213 autosomal recessive intellectual developmental disorder 50 ISO RGD:1604794 D RGD:7240710 20180130 OMIM 8919683 Edc3 enhancer of mRNA decapping 3 gene DOID:0081213 autosomal recessive intellectual developmental disorder 50 ISO RGD:1604794 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 50 PMID:25701870|PMID:25741868 8919683 Edc3 enhancer of mRNA decapping 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8919683 Edc3 enhancer of mRNA decapping 3 gene DOID:2717 Bloom syndrome ISO RGD:1604794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8919683 Edc3 enhancer of mRNA decapping 3 gene DOID:5419 schizophrenia ISO RGD:1604794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8919683 Edc3 enhancer of mRNA decapping 3 gene DOID:630 genetic disease ISO RGD:1604794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8919683 Edc3 enhancer of mRNA decapping 3 gene DOID:9256 colorectal cancer ISO RGD:1604794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence ISO RGD:732613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20372150|PMID:20418890 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence severity ISO RGD:732613 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP::rs1051730(human) PMID:29993116|REF_RGD_ID:150526806 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence severity ISO RGD:732613 D RGD:9068941 20231130 RGD DNA:SNPs:intron,CDS:rs938682,rs1051730 (human) PMID:27663783|REF_RGD_ID:401901143 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1343424 D RGD:9068941 20220304 RGD DNA:SNP:exon: (rs1051730) (human) PMID:21747048|REF_RGD_ID:151660346 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:732613 D RGD:9068941 20211203 RGD DNA:SNP: :rs578776(human) PMID:19706762|REF_RGD_ID:150524362 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:732613 D RGD:9068941 20240201 RGD DNA:SNPs:intron 1,3'UTR: (rs637137,rs578776) (human) PMID:21312287|REF_RGD_ID:401959233 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:10534 stomach cancer ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:hypermethylation:CpG: PMID:21831520|REF_RGD_ID:151347539 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:11832 visual epilepsy ISO RGD:2345 D RGD:9068941 20200609 RGD PMID:15469883|REF_RGD_ID:1599607 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer ISO RGD:732613 D RGD:7240710 20240306 OMIM 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer ISO RGD:732613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung cancer susceptibility 2 PMID:18385676|PMID:18385738|PMID:18385739|PMID:28492532 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer onset ISO RGD:732613 D RGD:9068941 20220225 RGD DNA:SNP:exon 2: rs8040868(T>C) (human) PMID:29416783|REF_RGD_ID:151361155 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732613 D RGD:9068941 20240307 RGD DNA:SNP: :rs6495309(human) PMID:23056235|REF_RGD_ID:151347536 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732613 D RGD:9068941 20240307 RGD DNA:haplotype:promoter:rs6495309(human) PMID:19491260|REF_RGD_ID:151347534 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732613 D RGD:9068941 20240307 RGD associated with smoking; DNA:SNP: :rs1051730(human) PMID:22441734|REF_RGD_ID:151347455 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:732613 D RGD:9068941 20240307 RGD associated with smoking; DNA:SNP::rs1051730(human) PMID:29993116|REF_RGD_ID:150526806 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1574 alcohol use disorder ISO RGD:732613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414406 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1596 depressive disorder ISO RGD:2345 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:1749 squamous cell carcinoma ISO RGD:732613 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:2717 Bloom syndrome ISO RGD:732613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:732613 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP: :rs1051730(human) PMID:26751916|REF_RGD_ID:150527850 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP::rs1051730(human) PMID:29993116|REF_RGD_ID:150526806 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs12910984(human) PMID:23207642|REF_RGD_ID:151347538 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs6495309(human) PMID:23056235|REF_RGD_ID:151347536 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD associated with smoking; DNA:SNP: :rs1051730(human) PMID:22441734|REF_RGD_ID:151347455 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3905 lung carcinoma susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs1051730(human) PMID:24337855|REF_RGD_ID:151347533 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs6495309(human) PMID:22722785|REF_RGD_ID:151347532 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1343424 D RGD:9068941 20220304 RGD DNA:SNP:exon: (rs1051730) (human) PMID:21747048|REF_RGD_ID:151660346 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:732613 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:732613 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP: :rs1051730(human) PMID:20554942|REF_RGD_ID:150527848 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP: :rs8042374(human) PMID:24686516|REF_RGD_ID:151347530 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:5409 lung small cell carcinoma ISO RGD:732613 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:732613 D RGD:9068941 20220128 RGD DNA:SNP:cds:rs8040868(human) PMID:22280835|REF_RGD_ID:151347453 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:630 genetic disease ISO RGD:732613 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9001213 BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT ISO RGD:732613 D RGD:7240710 20240306 OMIM 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9001213 BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT ISO RGD:732613 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of PMID:25741868|PMID:28492532|PMID:31708116 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:732613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414406|PMID:29666375 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:2345 D RGD:9068941 20220128 RGD PMID:24704181|REF_RGD_ID:151347543 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9004283 Transplant Rejection ISO RGD:2345 D RGD:9068941 20220128 RGD PMID:25121092|REF_RGD_ID:151347544 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:732613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18385738 8919698 Chrna3 cholinergic receptor nicotinic alpha 3 subunit gene DOID:9256 colorectal cancer ISO RGD:732613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8919724 Tmf1 TATA element modulatory factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:732153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8919724 Tmf1 TATA element modulatory factor 1 gene DOID:630 genetic disease ISO RGD:732153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919724 Tmf1 TATA element modulatory factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8919745 Chodl chondrolectin gene DOID:10652 Alzheimer's disease ISO RGD:1320469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8919745 Chodl chondrolectin gene DOID:630 genetic disease ISO RGD:1320469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919745 Chodl chondrolectin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8919759 Pex5l peroxisomal biogenesis factor 5 like gene DOID:0111546 Currarino syndrome ISO RGD:1345397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8919759 Pex5l peroxisomal biogenesis factor 5 like gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1345397 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 8919759 Pex5l peroxisomal biogenesis factor 5 like gene DOID:630 genetic disease ISO RGD:1345397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919803 Kpna6 karyopherin subunit alpha 6 gene DOID:630 genetic disease ISO RGD:1315261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919827 Gps1 G protein pathway suppressor 1 gene DOID:630 genetic disease ISO RGD:732073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919855 Kif26a kinesin family member 26A gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1317452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8919855 Kif26a kinesin family member 26A gene DOID:630 genetic disease ISO RGD:1317452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:36228617 8919855 Kif26a kinesin family member 26A gene DOID:9007250 Complex Cortical Dysplasia with Other Brain Malformations 11 ISO RGD:1317452 D RGD:7240710 20221214 OMIM 8919855 Kif26a kinesin family member 26A gene DOID:9007250 Complex Cortical Dysplasia with Other Brain Malformations 11 ISO RGD:1317452 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 11 PMID:25741868|PMID:36228617 8919885 Phf5a PHD finger protein 5A gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8919885 Phf5a PHD finger protein 5A gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8919893 Traip TRAF interacting protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8919893 Traip TRAF interacting protein gene DOID:0070005 Seckel syndrome 9 ISO RGD:1601884 D RGD:7240710 20190315 OMIM 8919893 Traip TRAF interacting protein gene DOID:0070005 Seckel syndrome 9 ISO RGD:1601884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seckel syndrome 9 PMID:25741868|PMID:26595769|PMID:28492532|PMID:31974414 8919893 Traip TRAF interacting protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8919893 Traip TRAF interacting protein gene DOID:10907 microcephaly ISO RGD:1601884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26595769 8919893 Traip TRAF interacting protein gene DOID:630 genetic disease ISO RGD:1601884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8919893 Traip TRAF interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:1601884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8919893 Traip TRAF interacting protein gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8919893 Traip TRAF interacting protein gene DOID:9007661 Dwarfism ISO RGD:1601884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26595769 8919893 Traip TRAF interacting protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1601884 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8919912 Pou5f2 POU domain class 5, transcription factor 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8919912 Pou5f2 POU domain class 5, transcription factor 2 gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:1606459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:24462372 8919912 Pou5f2 POU domain class 5, transcription factor 2 gene DOID:630 genetic disease ISO RGD:1606459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919912 Pou5f2 POU domain class 5, transcription factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8919912 Pou5f2 POU domain class 5, transcription factor 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8919922 Glis3 GLIS family zinc finger 3 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:1348907 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:25741868|PMID:27899417|PMID:28492532|PMID:29146476|PMID:29992946|PMID:32693112|PMID:35394098 8919922 Glis3 GLIS family zinc finger 3 gene DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism ISO RGD:1348907 D RGD:7240710 20180130 OMIM 8919922 Glis3 GLIS family zinc finger 3 gene DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism ISO RGD:1348907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism PMID:12966531|PMID:16715098|PMID:18263616|PMID:18414213|PMID:23856252|PMID:24033266|PMID:25741868|PMID:26259131|PMID:27899417|PMID:28253873|PMID:28444304|PMID:28492532|PMID:29146476|PMID:29992946|PMID:31415576|PMID:32425884|PMID:32693112|PMID:35394098 8919922 Glis3 GLIS family zinc finger 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1348907 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8919922 Glis3 GLIS family zinc finger 3 gene DOID:0070093 schizophrenia 18 ISO RGD:1348907 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Schizophrenia 18 PMID:23341099 8919922 Glis3 GLIS family zinc finger 3 gene DOID:12271 aniridia ISO RGD:1348907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:26893459 8919922 Glis3 GLIS family zinc finger 3 gene DOID:13550 angle-closure glaucoma ISO RGD:1348907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064256 8919922 Glis3 GLIS family zinc finger 3 gene DOID:630 genetic disease ISO RGD:1348907 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27899417|PMID:28492532|PMID:29146476|PMID:29992946|PMID:32693112|PMID:35394098 8919922 Glis3 GLIS family zinc finger 3 gene DOID:9351 diabetes mellitus ISO RGD:1348907 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:25741868|PMID:27899417|PMID:28492532|PMID:29146476|PMID:29992946|PMID:31415576|PMID:32693112|PMID:35394098 8919922 Glis3 GLIS family zinc finger 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1348907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 8919922 Glis3 GLIS family zinc finger 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1348907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 8919973 LOC102021830 keratin-associated protein 3-1 gene DOID:630 genetic disease ISO RGD:1314968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919990 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:12849 autistic disorder ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8919990 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:1826 epilepsy ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8919990 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:5419 schizophrenia ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8919990 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:630 genetic disease ISO RGD:1606418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8919990 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:8445 intestinal volvulus ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8919990 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:9000664 Familial Thoracic Aortic Aneurysm 4 ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:22318994|PMID:27884122|PMID:28492532|PMID:29179725 8919990 Mpv17l MPV17 mitochondrial inner membrane protein like gene DOID:9008419 Volvulus Of Midgut ISO RGD:1606418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8920004 Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1603320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 8920004 Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:0070404 hypomyelinating leukodystrophy 17 ISO RGD:1603320 D RGD:7240710 20190315 OMIM 8920004 Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:0070404 hypomyelinating leukodystrophy 17 ISO RGD:1603320 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 PMID:25741868|PMID:28492532|PMID:29215095 8920004 Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:0080600 COVID-19 ISO RGD:1603320 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8920004 Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:3883 Lynch syndrome ISO RGD:1603320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18602922|PMID:18809606|PMID:20205264|PMID:21376568|PMID:24068316|PMID:24362816|PMID:28492532 8920004 Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:630 genetic disease ISO RGD:1603320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8920004 Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:29215095 8920015 Pkhd1l1 PKHD1 like 1 gene DOID:630 genetic disease ISO RGD:1321293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920097 Gcsam germinal center associated signaling and motility gene DOID:630 genetic disease ISO RGD:1343482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920114 Ppp1cc protein phosphatase 1 catalytic subunit gamma gene DOID:6000 congestive heart failure ISO RGD:3377 D RGD:9068941 20200609 RGD protein:increased expression:heart, membrane PMID:26668322|REF_RGD_ID:11526267 8920114 Ppp1cc protein phosphatase 1 catalytic subunit gamma gene DOID:630 genetic disease ISO RGD:734001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920114 Ppp1cc protein phosphatase 1 catalytic subunit gamma gene DOID:9000039 Spinal Cord Injuries ISO RGD:3377 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, astrocyte, microglial cell PMID:29033188|REF_RGD_ID:13514047 8920114 Ppp1cc protein phosphatase 1 catalytic subunit gamma gene DOID:9002762 Ovarian Neoplasms ISO RGD:734001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 8920125 Plcxd3 phosphatidylinositol specific phospholipase C X domain containing 3 gene DOID:630 genetic disease ISO RGD:1604168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920125 Plcxd3 phosphatidylinositol specific phospholipase C X domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8920163 Vps18 VPS18 core subunit of CORVET and HOPS complexes gene DOID:2717 Bloom syndrome ISO RGD:1323077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8920163 Vps18 VPS18 core subunit of CORVET and HOPS complexes gene DOID:630 genetic disease ISO RGD:1323077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920163 Vps18 VPS18 core subunit of CORVET and HOPS complexes gene DOID:9256 colorectal cancer ISO RGD:1323077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8920172 Dusp22 dual specificity phosphatase 22 gene DOID:13938 amenorrhea ISO RGD:1316166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8920172 Dusp22 dual specificity phosphatase 22 gene DOID:630 genetic disease ISO RGD:1316166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920199 Acsm3 acyl-CoA synthetase medium chain family member 3 gene DOID:10763 hypertension ISO RGD:62086 D RGD:9068941 20200609 RGD PMID:8094726|PMID:8507454|REF_RGD_ID:61050|REF_RGD_ID:634023 8920199 Acsm3 acyl-CoA synthetase medium chain family member 3 gene DOID:10825 essential hypertension no_association ISO RGD:735798 D RGD:9068941 20200609 RGD PMID:11592044|REF_RGD_ID:1579978 8920199 Acsm3 acyl-CoA synthetase medium chain family member 3 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:735798 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:12484505|REF_RGD_ID:7241283 8920199 Acsm3 acyl-CoA synthetase medium chain family member 3 gene DOID:630 genetic disease ISO RGD:735798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920199 Acsm3 acyl-CoA synthetase medium chain family member 3 gene DOID:8577 ulcerative colitis ISO RGD:735798 D RGD:9068941 20200609 RGD mRNA:decreased expression:colonic mucosa PMID:21987487|REF_RGD_ID:7241281 8920199 Acsm3 acyl-CoA synthetase medium chain family member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8920199 Acsm3 acyl-CoA synthetase medium chain family member 3 gene DOID:9002569 Overweight ISO RGD:735798 D RGD:9068941 20200609 RGD associated with Hypertension, Essential;DNA:polymorphism:intron: PMID:14567496|REF_RGD_ID:7241282 8920199 Acsm3 acyl-CoA synthetase medium chain family member 3 gene DOID:9004131 NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES ISO RGD:735798 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech delay and variable ocular anomalies PMID:25741868|PMID:30237576|PMID:35196516 8920199 Acsm3 acyl-CoA synthetase medium chain family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735798 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30237576|PMID:35196516 8920199 Acsm3 acyl-CoA synthetase medium chain family member 3 gene DOID:9282 ocular hypertension ISO RGD:62086 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina, muller cell PMID:17102796|REF_RGD_ID:1601004 8920227 E2f5 E2F transcription factor 5 gene DOID:10283 prostate cancer ISO RGD:731057 D RGD:9068941 20221103 RGD mRNA,protein:increased expression:prostate: PMID:33390186|REF_RGD_ID:155641232 8920227 E2f5 E2F transcription factor 5 gene DOID:10286 prostate carcinoma ameliorates ISO RGD:731057 D RGD:9068941 20221103 RGD PMID:33390186|REF_RGD_ID:155641232 8920227 E2f5 E2F transcription factor 5 gene DOID:10908 hydrocephalus ISO RGD:731058 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8920227 E2f5 E2F transcription factor 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 8920227 E2f5 E2F transcription factor 5 gene DOID:630 genetic disease ISO RGD:731057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920227 E2f5 E2F transcription factor 5 gene DOID:9000918 Disease Progression ISO RGD:731057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1319554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938944 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319554 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29432982|PMID:29932062|PMID:32917966 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:0080411 familial adenomatous polyposis 3 ISO RGD:1319554 D RGD:7240710 20180130 OMIM 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:0080411 familial adenomatous polyposis 3 ISO RGD:1319554 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 3 | ClinVar Annotator: match by term: NTHL1-related condition PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:26076356|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31645984|PMID:31942411|PMID:32091409|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:34871433|PMID:34994648|PMID:35128723|PMID:37088804|PMID:37353797|PMID:37460928|PMID:9536098|PMID:9705289 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:1826 epilepsy ISO RGD:1319554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1319554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:25741868|PMID:28492532 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:9006741 Acute Hepatitis ISO RGD:1309289 D RGD:9068941 20200609 RGD PMID:20033472|REF_RGD_ID:11568659 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12144783|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29909963|PMID:30552997|PMID:30753826|PMID:31227763|PMID:31285513|PMID:31360874|PMID:31942411|PMID:33193653|PMID:9536098 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31942411|PMID:32091409|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:9536098 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26076356|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31645984|PMID:31942411|PMID:32091409|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:34871433|PMID:34994648|PMID:35128723|PMID:37088804|PMID:37353797|PMID:37460928|PMID:9536098|PMID:9705289 8920260 Nthl1 nth like DNA glycosylase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319554 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:12840008|PMID:16199547|PMID:17576681|PMID:18515411|PMID:20054297|PMID:21167187|PMID:23852950|PMID:25741868|PMID:25938944|PMID:25995449|PMID:26076356|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27329137|PMID:27713038|PMID:27720914|PMID:28492532|PMID:28912133|PMID:29522130|PMID:29625052|PMID:29641532|PMID:29909963|PMID:30248171|PMID:30267214|PMID:30552997|PMID:30584090|PMID:30753826|PMID:30833958|PMID:31220976|PMID:31227763|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31645984|PMID:31942411|PMID:32091409|PMID:32300177|PMID:32581083|PMID:32704608|PMID:32860789|PMID:32906206|PMID:33087284|PMID:33193653|PMID:33332384|PMID:33454955|PMID:33980861|PMID:34871433|PMID:34994648|PMID:35128723|PMID:36279116|PMID:36451132|PMID:37088804|PMID:37353797|PMID:37460928|PMID:8990169|PMID:9045706|PMID:9536098|PMID:9705289 8920272 Fkbp10 FKBP prolyl isomerase 10 gene DOID:0060231 Bruck syndrome ISO RGD:1319279 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bruck syndrome PMID:16199547|PMID:22689593|PMID:22949511|PMID:25741868|PMID:28492532|PMID:32770541 8920272 Fkbp10 FKBP prolyl isomerase 10 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 8920272 Fkbp10 FKBP prolyl isomerase 10 gene DOID:0110348 osteogenesis imperfecta type 12 ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 PMID:20362275|PMID:20839288|PMID:21567934|PMID:22107750|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 8920272 Fkbp10 FKBP prolyl isomerase 10 gene DOID:0110351 osteogenesis imperfecta type 11 ISO RGD:1319279 D RGD:7240710 20180130 OMIM 8920272 Fkbp10 FKBP prolyl isomerase 10 gene DOID:0110351 osteogenesis imperfecta type 11 ISO RGD:1319279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: FKBP10-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta type 11 PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27362741|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532|PMID:30715774|PMID:9129737 8920272 Fkbp10 FKBP prolyl isomerase 10 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319279 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:17576681|PMID:20839288|PMID:22949511|PMID:25741868|PMID:26538303|PMID:28492532|PMID:30715774|PMID:34149817|PMID:9481655|PMID:9536098|PMID:9927692 8920272 Fkbp10 FKBP prolyl isomerase 10 gene DOID:4667 kyphosis ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kyphosis PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 8920272 Fkbp10 FKBP prolyl isomerase 10 gene DOID:630 genetic disease ISO RGD:1319279 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30715774 8920272 Fkbp10 FKBP prolyl isomerase 10 gene DOID:9002589 Bone Fractures ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 8920272 Fkbp10 FKBP prolyl isomerase 10 gene DOID:9007227 Bruck Syndrome 1 ISO RGD:1319279 D RGD:7240710 20180130 OMIM 8920272 Fkbp10 FKBP prolyl isomerase 10 gene DOID:9007227 Bruck Syndrome 1 ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bruck syndrome 1 PMID:20362275|PMID:20696291|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:23712425|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532|PMID:30715774|PMID:9129737|PMID:9481655|PMID:9927692 8920272 Fkbp10 FKBP prolyl isomerase 10 gene DOID:9007661 Dwarfism ISO RGD:1319279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:20362275|PMID:20839288|PMID:21567934|PMID:22689593|PMID:22949511|PMID:25741868|PMID:26538303|PMID:27509835|PMID:27717089|PMID:27762305|PMID:28492532 8920304 Dock3 dedicator of cytokinesis 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1315429 D RGD:9068941 20200609 RGD PMID:14569117|REF_RGD_ID:1358592 8920304 Dock3 dedicator of cytokinesis 3 gene DOID:630 genetic disease ISO RGD:1315429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28195318|PMID:30976111 8920304 Dock3 dedicator of cytokinesis 3 gene DOID:9002933 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia ISO RGD:1315429 D RGD:7240710 20190315 OMIM 8920304 Dock3 dedicator of cytokinesis 3 gene DOID:9002933 Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia ISO RGD:1315429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia PMID:25741868|PMID:28195318|PMID:28492532|PMID:29130632|PMID:30976111 8920304 Dock3 dedicator of cytokinesis 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1315429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30976111 8920360 Fzd5 frizzled class receptor 5 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1345907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 8920360 Fzd5 frizzled class receptor 5 gene DOID:0080600 COVID-19 ISO RGD:1345907 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8920360 Fzd5 frizzled class receptor 5 gene DOID:12270 coloboma ISO RGD:1345907 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868|PMID:26908622|PMID:32737437 8920360 Fzd5 frizzled class receptor 5 gene DOID:14557 primary pulmonary hypertension ISO RGD:1345907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8920360 Fzd5 frizzled class receptor 5 gene DOID:630 genetic disease ISO RGD:1345907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920360 Fzd5 frizzled class receptor 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8920360 Fzd5 frizzled class receptor 5 gene DOID:9008792 Microphthalmia/Coloboma 11 ISO RGD:1345907 D RGD:7240710 20240320 OMIM 8920367 Ptgr1 prostaglandin reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732819 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8920367 Ptgr1 prostaglandin reductase 1 gene DOID:10763 hypertension ISO RGD:621195 D RGD:9068941 20240118 RGD mRNA:decreased expression:rostral ventrolateral medulla, paraventricular nucleus of hypothalamus, nucleus of solitary tract (rat) PMID:23172924|REF_RGD_ID:401959217 8920367 Ptgr1 prostaglandin reductase 1 gene DOID:630 genetic disease ISO RGD:732819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920367 Ptgr1 prostaglandin reductase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:621195 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:24853774|REF_RGD_ID:14401713 8920384 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1605282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8920384 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:12849 autistic disorder ISO RGD:1605282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8920384 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:1540 parathyroid carcinoma ISO RGD:1605282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8920384 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1605282 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 8920384 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:630 genetic disease ISO RGD:1605282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920384 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1605282 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8920384 Mfsd4a major facilitator superfamily domain containing 4A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:0050451 Brugada syndrome ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:0050700 cardiomyopathy ISO RGD:1348352 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:19525294|PMID:19608030|PMID:19608031|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:30659708|PMID:30847666|PMID:31983221|PMID:9536098 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:0060480 left ventricular noncompaction ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868|PMID:28492532 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:19525294|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16199547|PMID:19525294|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1348352 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28518168|PMID:28672880|PMID:31737537 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1348352 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28518168|PMID:28672880|PMID:31737537 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348352 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28518168|PMID:28672880|PMID:31737537 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1348352 D RGD:9068941 20200609 RGD PMID:14516314|REF_RGD_ID:1578366 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:18273862|PMID:19525294|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27143260|PMID:27532257|PMID:28166811|PMID:28492532|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30847666|PMID:9536098 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:18273862|PMID:19525294|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28166811|PMID:28492532|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30847666|PMID:31737537|PMID:31983221|PMID:32880476|PMID:9536098 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:18273862|PMID:19525294|PMID:19589340|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27114410|PMID:27143260|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30659708|PMID:30847666|PMID:31737537|PMID:31983221|PMID:32880476|PMID:9536098 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348352 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17576681|PMID:18273862|PMID:19525294|PMID:19589340|PMID:19608030|PMID:19608031|PMID:21520333|PMID:22337857|PMID:22388920|PMID:22892539|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25089522|PMID:25741868|PMID:27114410|PMID:27143260|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28672880|PMID:28794111|PMID:29447731|PMID:30659708|PMID:30847666|PMID:31737537|PMID:31983221|PMID:32880476|PMID:33996946|PMID:9536098 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:2843 long QT syndrome ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:28492532 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:289 endometriosis ISO RGD:1348352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:3191 nemaline myopathy ISO RGD:1348352 D RGD:9068941 20200609 RGD PMID:14516314|REF_RGD_ID:1578366 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:422 congenital structural myopathy ISO RGD:1348352 D RGD:9068941 20200609 RGD PMID:14516314|REF_RGD_ID:1578366 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:4297 scimitar syndrome ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 | ClinVar Annotator: match by term: Total anomalous pulmonary venous return PMID:19525294|PMID:19608031|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:630 genetic disease ISO RGD:1348352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61989 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, dorsal root ganglion, neuron PMID:17610582|REF_RGD_ID:5133279 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:9001600 Wounds and Injuries ISO RGD:62281 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple PMID:15632022|REF_RGD_ID:5133280 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:9003936 Cardiomegaly ISO RGD:61989 D RGD:9068941 20200609 RGD PMID:10904011|REF_RGD_ID:1578370 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61989 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:19299913|REF_RGD_ID:5133278 8920404 Ankrd1 ankyrin repeat domain 1 gene DOID:9651 systolic heart failure ISO RGD:1348352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:19525294|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8920424 Pam16 presequence translocase associated motor 16 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1603048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8920424 Pam16 presequence translocase associated motor 16 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1603048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8920424 Pam16 presequence translocase associated motor 16 gene DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type ISO RGD:1603048 D RGD:7240710 20180131 OMIM 8920424 Pam16 presequence translocase associated motor 16 gene DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type ISO RGD:1603048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type PMID:24786642|PMID:27354339|PMID:28492532 8920424 Pam16 presequence translocase associated motor 16 gene DOID:1826 epilepsy ISO RGD:1603048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8920424 Pam16 presequence translocase associated motor 16 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8920424 Pam16 presequence translocase associated motor 16 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation PMID:12114483|PMID:17855048|PMID:25805166|PMID:27257017|PMID:28492532 8920424 Pam16 presequence translocase associated motor 16 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603048 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8920445 Ubl7 ubiquitin like 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602843 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8920445 Ubl7 ubiquitin like 7 gene DOID:2717 Bloom syndrome ISO RGD:1602843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8920445 Ubl7 ubiquitin like 7 gene DOID:5419 schizophrenia ISO RGD:1602843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8920445 Ubl7 ubiquitin like 7 gene DOID:630 genetic disease ISO RGD:1602843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920445 Ubl7 ubiquitin like 7 gene DOID:9256 colorectal cancer ISO RGD:1602843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8920470 Fkbp1a FKBP prolyl isomerase 1A gene DOID:0050476 Barth syndrome ISO RGD:737540 D RGD:9068941 20220825 MouseDO OMIM:302060 8920470 Fkbp1a FKBP prolyl isomerase 1A gene DOID:0080855 Parkinsonism ISO RGD:2617 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17877381|REF_RGD_ID:2302074 8920470 Fkbp1a FKBP prolyl isomerase 1A gene DOID:1682 congenital heart disease ISO RGD:737540 D RGD:9068941 20200609 RGD PMID:9461216|REF_RGD_ID:1580388 8920470 Fkbp1a FKBP prolyl isomerase 1A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8920470 Fkbp1a FKBP prolyl isomerase 1A gene DOID:630 genetic disease ISO RGD:737539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920470 Fkbp1a FKBP prolyl isomerase 1A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8920491 LOC102015156 cytochrome c oxidase assembly protein COX14 gene DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 ISO RGD:1602844 D RGD:7240710 20201111 OMIM 8920491 LOC102015156 cytochrome c oxidase assembly protein COX14 gene DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 ISO RGD:1602844 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 PMID:22243966|PMID:25741868|PMID:28492532 8920491 LOC102015156 cytochrome c oxidase assembly protein COX14 gene DOID:630 genetic disease ISO RGD:1602844 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8920500 Npffr1 neuropeptide FF receptor 1 gene DOID:630 genetic disease ISO RGD:1351737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920508 Arhgap32 Rho GTPase activating protein 32 gene DOID:0060041 autism spectrum disorder ISO RGD:1313195 D RGD:9068941 20220825 MouseDO 8920508 Arhgap32 Rho GTPase activating protein 32 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8920508 Arhgap32 Rho GTPase activating protein 32 gene DOID:3070 high grade glioma ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8920508 Arhgap32 Rho GTPase activating protein 32 gene DOID:5419 schizophrenia ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8920508 Arhgap32 Rho GTPase activating protein 32 gene DOID:630 genetic disease ISO RGD:1605412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920508 Arhgap32 Rho GTPase activating protein 32 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8920508 Arhgap32 Rho GTPase activating protein 32 gene DOID:9007661 Dwarfism ISO RGD:1605412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8920540 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1321974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8920540 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:0110266 cataract 9 multiple types ISO RGD:1321974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8920540 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:630 genetic disease ISO RGD:1321974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920540 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1321974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8920540 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8920540 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:9263 homocystinuria ISO RGD:1321974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8920540 Zbtb21 zinc finger and BTB domain containing 21 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321974 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8920557 Ffar1 free fatty acid receptor 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:736481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8920557 Ffar1 free fatty acid receptor 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8920557 Ffar1 free fatty acid receptor 1 gene DOID:543 dystonia ISO RGD:736481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8920557 Ffar1 free fatty acid receptor 1 gene DOID:630 genetic disease ISO RGD:736481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920557 Ffar1 free fatty acid receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736481 D RGD:9068941 20211015 RGD PMID:19758793|REF_RGD_ID:2315761 8920557 Ffar1 free fatty acid receptor 1 gene DOID:9352 type 2 diabetes mellitus ameliorates ISO RGD:736481 D RGD:9068941 20211015 RGD PMID:19401434|REF_RGD_ID:150517551 8920562 Xkr8 XK related 8 gene DOID:630 genetic disease ISO RGD:1602706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736158 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14555548|REF_RGD_ID:5144236 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:0050256 angiostrongyliasis ISO RGD:736159 D RGD:9068941 20201105 RGD mRNA:increased expression:brain: PMID:23148283|REF_RGD_ID:40400713 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:0050256 angiostrongyliasis treatment ISO RGD:736159 D RGD:9068941 20201030 RGD PMID:24657070|REF_RGD_ID:11561855 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:736158 D RGD:9068941 20201016 RGD PMID:25193287|REF_RGD_ID:39938972 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736158 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:0060180 colitis severity ISO RGD:736159 D RGD:9068941 20201030 RGD PMID:23172891|REF_RGD_ID:40400694 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:0060496 respiratory allergy ISO RGD:736159 D RGD:9068941 20201016 RGD associated with Fungal Lung Diseases PMID:25746970|REF_RGD_ID:39938968 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:0080685 aortic dissection ISO RGD:736158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:736159 D RGD:9068941 20201030 RGD associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver: PMID:26518437|REF_RGD_ID:11343232 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 treatment ISO RGD:736159 D RGD:9068941 20201030 RGD associated with lymphocytic choriomeningitis PMID:26518437|REF_RGD_ID:11343232 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:1080 filariasis ISO RGD:736159 D RGD:9068941 20201105 RGD PMID:27592711|REF_RGD_ID:40400889 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:11166 papillomavirus infectious disease ISO RGD:736158 D RGD:9068941 20201015 RGD PMID:30935248|REF_RGD_ID:39938848 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome severity ISO RGD:736158 D RGD:9068941 20201105 RGD PMID:25658420|REF_RGD_ID:40400702 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:12155 lymphocytic choriomeningitis severity ISO RGD:736159 D RGD:9068941 20201105 RGD PMID:25829541|REF_RGD_ID:40400708 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:12205 dengue disease treatment ISO RGD:736159 D RGD:9068941 20201015 RGD PMID:30098206|REF_RGD_ID:39938828 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:12365 malaria ISO RGD:736159 D RGD:9068941 20201015 RGD PMID:28359899|REF_RGD_ID:39938859 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:12554 hemolytic-uremic syndrome severity ISO RGD:736158 D RGD:9068941 20201015 RGD associated with Escherichia Coli Infections; PMID:30467800|REF_RGD_ID:39458200 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:736158 D RGD:9068941 20201015 RGD PMID:28992214|REF_RGD_ID:39938858 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736159 D RGD:9068941 20200609 RGD PMID:11283151|REF_RGD_ID:5144238 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:14069 cerebral malaria treatment ISO RGD:736159 D RGD:9068941 20201105 RGD PMID:25682948|REF_RGD_ID:40400741 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:2841 asthma ISO RGD:736158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610|PMID:21150878|PMID:21804549|PMID:24241537|PMID:27472835 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:2841 asthma ISO RGD:736158 D RGD:9068941 20200609 RGD DNA:SNP: :rs10197862 (human) PMID:21150878|REF_RGD_ID:5144240 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:2841 asthma ISO RGD:736158 D RGD:9068941 20200609 RGD DNA:SNP: :rs1420101 (human) PMID:19198610|REF_RGD_ID:5144243 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:2841 asthma ISO RGD:736158 D RGD:9068941 20200609 RGD DNA:SNPs:intron:rs1420089, rs1861245,rs1946131 (human) PMID:19852851|REF_RGD_ID:5144242 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:2841 asthma ISO RGD:736159 D RGD:9068941 20200609 RGD PMID:17407196|PMID:19179489|REF_RGD_ID:5144244|REF_RGD_ID:5144245 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:2841 asthma ISO RGD:736159 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17623648|REF_RGD_ID:5144235 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:2841 asthma severity ISO RGD:736158 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11463601|REF_RGD_ID:5144237 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:2841 asthma susceptibility ISO RGD:736158 D RGD:9068941 20200609 RGD DNA:SNP: :rs1041973 (human) PMID:21281963|REF_RGD_ID:5144239 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:736159 D RGD:9068941 20201016 RGD PMID:28128217|REF_RGD_ID:39938965 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736158 D RGD:9068941 20200609 RGD PMID:19927353|REF_RGD_ID:5144227 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736159 D RGD:9068941 20201105 RGD mRNA:increased expression:lung: PMID:30952808|REF_RGD_ID:40400740 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:3393 coronary artery disease severity ISO RGD:736158 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-27307T>A, -27614C>A (human) PMID:20602249|REF_RGD_ID:5144241 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:4483 rhinitis severity ISO RGD:736158 D RGD:9068941 20200609 RGD associated with Sinusitis;DNA:SNPs: :multiple (human) PMID:19671251|REF_RGD_ID:5144228 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:5082 liver cirrhosis severity ISO RGD:736159 D RGD:9068941 20201015 RGD associated with Schistosomiasis Japonica PMID:31200771|REF_RGD_ID:39938956 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:630 genetic disease ISO RGD:736158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:646 viral encephalitis ISO RGD:736159 D RGD:9068941 20201008 RGD mRNA:increased expression:brain PMID:27334012|REF_RGD_ID:39457934 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:646 viral encephalitis severity ISO RGD:736159 D RGD:9068941 20201008 RGD PMID:27334012|REF_RGD_ID:39457934 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:874 bacterial pneumonia ISO RGD:736159 D RGD:9068941 20200609 RGD associated with Sepsis PMID:20959556|REF_RGD_ID:5144223 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:874 bacterial pneumonia treatment ISO RGD:2894 D RGD:9068941 20201112 RGD associated with Acinetobacter infectious disease PMID:29508184|REF_RGD_ID:40818077 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9000238 Acute-On-Chronic Liver Failure disease_progression ISO RGD:736158 D RGD:9068941 20201015 RGD associated with hepatitis B; PMID:28381383|REF_RGD_ID:39938857 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9000590 Dyspnea disease_progression ISO RGD:736158 D RGD:9068941 20200609 RGD PMID:20804518|REF_RGD_ID:5144224 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:736158 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32777237 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:736158 D RGD:9068941 20201015 RGD mRNA:increased expression:gingiva PMID:25808546|REF_RGD_ID:39938855 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9002457 Experimental Arthritis ISO RGD:736158 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20472598 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9002992 Nematode Infections severity ISO RGD:736159 D RGD:9068941 20201030 RGD PMID:27697499|REF_RGD_ID:40400689 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9003870 Herpes Simplex Encephalitis severity ISO RGD:736159 D RGD:9068941 20201022 RGD PMID:26872602|REF_RGD_ID:39939003 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9003936 Cardiomegaly severity ISO RGD:736159 D RGD:9068941 20201112 RGD PMID:17492053|REF_RGD_ID:40813740 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9004484 Sepsis severity ISO RGD:736159 D RGD:9068941 20201016 RGD PMID:30001716|REF_RGD_ID:39938964 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736158 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21352201 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736159 D RGD:9068941 20200609 RGD PMID:21352201|REF_RGD_ID:5144222 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9006086 Intervertebral Disc Displacement ISO RGD:2894 D RGD:9068941 20201105 RGD protein:increased expression:spinal cord: PMID:29329586|REF_RGD_ID:40400909 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:736159 D RGD:9068941 20201105 RGD PMID:25926677|REF_RGD_ID:40400705 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9006535 Hookworm Infections ISO RGD:736159 D RGD:9068941 20201015 RGD PMID:22329990|REF_RGD_ID:39938827 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:736158 D RGD:9068941 20201015 RGD protein:increased expression:serum: PMID:28381383|REF_RGD_ID:39938857 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:736158 D RGD:9068941 20201008 RGD PMID:27180842|REF_RGD_ID:39457933 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9408 acute myocardial infarction ISO RGD:2894 D RGD:9068941 20201112 RGD PMID:24837094|REF_RGD_ID:40813741 8920577 Il1rl1 interleukin 1 receptor like 1 gene DOID:9675 pulmonary emphysema treatment ISO RGD:736159 D RGD:9068941 20201105 RGD associated with common cold; PMID:30952808|REF_RGD_ID:40400740 8920596 Slc26a11 solute carrier family 26 member 11 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1314648 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10521831|PMID:10601282|PMID:11182930|PMID:15542396|PMID:21061399|PMID:21910976|PMID:22976768|PMID:24314109|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9554748|PMID:9744479 8920596 Slc26a11 solute carrier family 26 member 11 gene DOID:12798 mucopolysaccharidosis ISO RGD:1314648 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:10521831|PMID:10601282|PMID:11182930|PMID:15542396|PMID:21061399|PMID:21910976|PMID:22976768|PMID:24314109|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9554748|PMID:9744479 8920596 Slc26a11 solute carrier family 26 member 11 gene DOID:12801 mucopolysaccharidosis III ISO RGD:1314648 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10521831|PMID:10601282|PMID:11182930|PMID:15542396|PMID:21061399|PMID:21910976|PMID:22976768|PMID:24314109|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9554748|PMID:9744479 8920596 Slc26a11 solute carrier family 26 member 11 gene DOID:630 genetic disease ISO RGD:1314648 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521831|PMID:10601282|PMID:11182930|PMID:15542396|PMID:21061399|PMID:21910976|PMID:22976768|PMID:24314109|PMID:25741868|PMID:26787381|PMID:28492532|PMID:29023963|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9554748|PMID:9744479 8920596 Slc26a11 solute carrier family 26 member 11 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1314648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 8920626 Znf629 zinc finger protein 629 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1314773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8920626 Znf629 zinc finger protein 629 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1314773 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 8920626 Znf629 zinc finger protein 629 gene DOID:630 genetic disease ISO RGD:1314773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920635 Ncl nucleolin gene DOID:0060476 Perlman syndrome ISO RGD:1342988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8920635 Ncl nucleolin gene DOID:0110991 Joubert syndrome 22 ISO RGD:1342988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8920635 Ncl nucleolin gene DOID:3910 lung adenocarcinoma ISO RGD:1342988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8920635 Ncl nucleolin gene DOID:630 genetic disease ISO RGD:1342988 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8920635 Ncl nucleolin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3153 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:24608397|REF_RGD_ID:9686390 8920635 Ncl nucleolin gene DOID:9006205 Animal Disease Models ISO RGD:1342988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8920635 Ncl nucleolin gene DOID:9007102 Myocardial Ischemia ISO RGD:1342988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8920635 Ncl nucleolin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3153 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:23594402|REF_RGD_ID:9686384 8920655 Cd53 CD53 molecule gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:737207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8920655 Cd53 CD53 molecule gene DOID:12849 autistic disorder ISO RGD:737207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8920655 Cd53 CD53 molecule gene DOID:630 genetic disease ISO RGD:737207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920655 Cd53 CD53 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8920655 Cd53 CD53 molecule gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:737207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 8920677 Rabl3 RAB, member of RAS oncogene family like 3 gene DOID:1793 pancreatic cancer ISO RGD:1315050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 5 PMID:31406347 8920677 Rabl3 RAB, member of RAS oncogene family like 3 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1315050 D RGD:7240710 20191211 OMIM 8920677 Rabl3 RAB, member of RAS oncogene family like 3 gene DOID:630 genetic disease ISO RGD:1315050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920677 Rabl3 RAB, member of RAS oncogene family like 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1315050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8920677 Rabl3 RAB, member of RAS oncogene family like 3 gene DOID:9270 alkaptonuria ISO RGD:1315050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8920691 Tarbp1 TAR (HIV-1) RNA binding protein 1 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1347235 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 8920691 Tarbp1 TAR (HIV-1) RNA binding protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8920691 Tarbp1 TAR (HIV-1) RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1347235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920691 Tarbp1 TAR (HIV-1) RNA binding protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8920724 Tceanc transcription elongation factor A N-terminal and central domain containing gene DOID:0110980 Joubert syndrome 1 ISO RGD:2303433 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 8920724 Tceanc transcription elongation factor A N-terminal and central domain containing gene DOID:12849 autistic disorder ISO RGD:2303433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8920724 Tceanc transcription elongation factor A N-terminal and central domain containing gene DOID:630 genetic disease ISO RGD:2303433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920724 Tceanc transcription elongation factor A N-terminal and central domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8920730 Litaf lipopolysaccharide induced TNF factor gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 8920730 Litaf lipopolysaccharide induced TNF factor gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:735583 D RGD:7240710 20180130 OMIM 8920730 Litaf lipopolysaccharide induced TNF factor gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:735583 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:12525712|PMID:1407588|PMID:15122712|PMID:15776420|PMID:15776429|PMID:15786462|PMID:16118794|PMID:16373087|PMID:16787513|PMID:17576681|PMID:19541485|PMID:20301384|PMID:20709679|PMID:21896645|PMID:2239969|PMID:22765307|PMID:23166352|PMID:23319192|PMID:23359569|PMID:23576546|PMID:24604904|PMID:24844793|PMID:24880540|PMID:25058650|PMID:25342198|PMID:25614874|PMID:25741868|PMID:25963657|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28211240|PMID:28492532|PMID:32376792|PMID:34311727|PMID:9536098 8920730 Litaf lipopolysaccharide induced TNF factor gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:735583 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12525712|PMID:1407588|PMID:15122712|PMID:15776420|PMID:15776429|PMID:15786462|PMID:16373087|PMID:16787513|PMID:19541485|PMID:20301384|PMID:20709679|PMID:21896645|PMID:2239969|PMID:22765307|PMID:23166352|PMID:23319192|PMID:23576546|PMID:24604904|PMID:24844793|PMID:24880540|PMID:25058650|PMID:25342198|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28211240|PMID:28492532|PMID:32376792 8920730 Litaf lipopolysaccharide induced TNF factor gene DOID:12377 spinal muscular atrophy ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 8920730 Litaf lipopolysaccharide induced TNF factor gene DOID:2538 Landau-Kleffner syndrome ISO RGD:735583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8920730 Litaf lipopolysaccharide induced TNF factor gene DOID:5419 schizophrenia ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8920730 Litaf lipopolysaccharide induced TNF factor gene DOID:5812 MHC class II deficiency ISO RGD:735583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8920730 Litaf lipopolysaccharide induced TNF factor gene DOID:630 genetic disease ISO RGD:735583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12525712|PMID:1407588|PMID:15122712|PMID:15776429|PMID:15786462|PMID:16373087|PMID:16787513|PMID:17576681|PMID:20301384|PMID:2239969|PMID:22765307|PMID:23319192|PMID:23576546|PMID:24604904|PMID:25058650|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28211240|PMID:28492532|PMID:32376792|PMID:9536098 8920730 Litaf lipopolysaccharide induced TNF factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:735583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29845714 8920730 Litaf lipopolysaccharide induced TNF factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69294 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21575160|REF_RGD_ID:11533943 8920769 Hyal1 hyaluronidase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8920769 Hyal1 hyaluronidase 1 gene DOID:0050809 mucopolysaccharidosis IX ISO RGD:1352194 D RGD:7240710 20180130 OMIM 8920769 Hyal1 hyaluronidase 1 gene DOID:0050809 mucopolysaccharidosis IX ISO RGD:1352194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase | ClinVar Annotator: match by term: HYALURONIDASE DEFICIENCY PMID:10339581|PMID:16199547|PMID:17576681|PMID:21559944|PMID:25741868|PMID:27424109|PMID:28492532|PMID:33942374|PMID:8793927|PMID:9536098 8920769 Hyal1 hyaluronidase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8920769 Hyal1 hyaluronidase 1 gene DOID:12798 mucopolysaccharidosis ISO RGD:1352194 D RGD:9068941 20200609 RGD mucopolysaccharidosis IX, OMIM:601492 DNA:point_mutation,rearrangement:CDS:compound heterozygote G1412A -> amino acid E268K, 1361del37ins14 PMID:10339581|REF_RGD_ID:1599811 8920769 Hyal1 hyaluronidase 1 gene DOID:630 genetic disease ISO RGD:1352194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8920769 Hyal1 hyaluronidase 1 gene DOID:6432 pulmonary hypertension ISO RGD:1303060 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19915162|REF_RGD_ID:9588633 8920769 Hyal1 hyaluronidase 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1352194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8920769 Hyal1 hyaluronidase 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1303060 D RGD:9068941 20200609 RGD PMID:22529164|REF_RGD_ID:9588636 8920769 Hyal1 hyaluronidase 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352194 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8920778 Acvr1b activin A receptor type 1B gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1349804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 8920778 Acvr1b activin A receptor type 1B gene DOID:0080600 COVID-19 ISO RGD:1349804 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8920778 Acvr1b activin A receptor type 1B gene DOID:10534 stomach cancer ISO RGD:1349804 D RGD:9068941 20220324 RGD PMID:32066878|REF_RGD_ID:151665490 8920778 Acvr1b activin A receptor type 1B gene DOID:10534 stomach cancer disease_progression ISO RGD:1349804 D RGD:9068941 20220324 RGD PMID:32066878|REF_RGD_ID:151665490 8920778 Acvr1b activin A receptor type 1B gene DOID:1790 malignant mesothelioma ameliorates ISO RGD:1349804 D RGD:9068941 20220324 RGD PMID:30061637|REF_RGD_ID:151665492 8920778 Acvr1b activin A receptor type 1B gene DOID:1793 pancreatic cancer ISO RGD:1349804 D RGD:7240710 20230628 OMIM 8920778 Acvr1b activin A receptor type 1B gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1349804 D RGD:9068941 20220324 RGD DNA:SNP:intron:rs12809597(human) PMID:22586632|REF_RGD_ID:151665491 8920778 Acvr1b activin A receptor type 1B gene DOID:4905 pancreatic carcinoma ISO RGD:1349804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:11248065 8920778 Acvr1b activin A receptor type 1B gene DOID:5409 lung small cell carcinoma ISO RGD:1349804 D RGD:9068941 20220324 RGD PMID:33880365|REF_RGD_ID:151665493 8920778 Acvr1b activin A receptor type 1B gene DOID:630 genetic disease ISO RGD:1349804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920778 Acvr1b activin A receptor type 1B gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:735207 D RGD:9068941 20220324 RGD PMID:9013782|REF_RGD_ID:151665480 8920778 Acvr1b activin A receptor type 1B gene DOID:9007102 Myocardial Ischemia ISO RGD:735207 D RGD:9068941 20200609 RGD PMID:14993131|REF_RGD_ID:1580888 8920778 Acvr1b activin A receptor type 1B gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1349804 D RGD:9068941 20220324 RGD associated with stomach cancer;mRNA:increased expression:stomach: PMID:32066878|REF_RGD_ID:151665490 8920778 Acvr1b activin A receptor type 1B gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1349804 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 8920795 Med25 mediator complex subunit 25 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:25488817|PMID:25527630|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:30800049|PMID:9536098 8920795 Med25 mediator complex subunit 25 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:16199547|PMID:17576681|PMID:25488817|PMID:25527630|PMID:25741868|PMID:26257172|PMID:28170084|PMID:28492532|PMID:30039206|PMID:30800049|PMID:31602195|PMID:32324310|PMID:32371413|PMID:32376792|PMID:9536098 8920795 Med25 mediator complex subunit 25 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8920795 Med25 mediator complex subunit 25 gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1347126 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2 PMID:25488817|PMID:25527630|PMID:25741868|PMID:28492532|PMID:30039206|PMID:32324310|PMID:32371413|PMID:32376792 8920795 Med25 mediator complex subunit 25 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1347126 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25488817|PMID:25741868|PMID:26257172|PMID:28492532|PMID:30039206|PMID:32376792 8920795 Med25 mediator complex subunit 25 gene DOID:1389 polyneuropathy ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868|PMID:28492532 8920795 Med25 mediator complex subunit 25 gene DOID:630 genetic disease ISO RGD:1347126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32376792|PMID:9536098 8920795 Med25 mediator complex subunit 25 gene DOID:9001276 Failure to Thrive ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 8920795 Med25 mediator complex subunit 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8920795 Med25 mediator complex subunit 25 gene DOID:9005442 Basel-Vanagaite-Smirin-Yosef syndrome ISO RGD:1347126 D RGD:7240710 20180130 OMIM 8920795 Med25 mediator complex subunit 25 gene DOID:9005442 Basel-Vanagaite-Smirin-Yosef syndrome ISO RGD:1347126 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome PMID:25488817|PMID:25741868|PMID:25792360|PMID:28170084|PMID:28492532|PMID:30039206|PMID:32324310|PMID:32371413|PMID:32376792 8920823 Rnf115 ring finger protein 115 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1313271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 8920823 Rnf115 ring finger protein 115 gene DOID:1540 parathyroid carcinoma ISO RGD:1313271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8920823 Rnf115 ring finger protein 115 gene DOID:5419 schizophrenia ISO RGD:1313271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8920823 Rnf115 ring finger protein 115 gene DOID:630 genetic disease ISO RGD:1313271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920823 Rnf115 ring finger protein 115 gene DOID:9008939 Breast Neoplasms ISO RGD:1313271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 8920823 Rnf115 ring finger protein 115 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8920851 Sde2 SDE2 telomere maintenance homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1603354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8920851 Sde2 SDE2 telomere maintenance homolog gene DOID:630 genetic disease ISO RGD:1603354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920851 Sde2 SDE2 telomere maintenance homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8920877 Gap43 growth associated protein 43 gene DOID:11832 visual epilepsy ISO RGD:62071 D RGD:9068941 20200609 RGD PMID:11054811|REF_RGD_ID:9685329 8920877 Gap43 growth associated protein 43 gene DOID:1824 status epilepticus ISO RGD:730980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10366005 8920877 Gap43 growth associated protein 43 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:62071 D RGD:9068941 20230610 RGD PMID:30531687|REF_RGD_ID:329849008 8920877 Gap43 growth associated protein 43 gene DOID:630 genetic disease ISO RGD:730980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920877 Gap43 growth associated protein 43 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:62071 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 8920877 Gap43 growth associated protein 43 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:62071 D RGD:9068941 20231230 RGD PMID:22428005|REF_RGD_ID:401940127 8920877 Gap43 growth associated protein 43 gene DOID:9002928 Colonic Neoplasms ISO RGD:730980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8920897 Sertad1 SERTA domain containing 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8920897 Sertad1 SERTA domain containing 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8920897 Sertad1 SERTA domain containing 1 gene DOID:2340 craniosynostosis ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8920897 Sertad1 SERTA domain containing 1 gene DOID:630 genetic disease ISO RGD:1353244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920897 Sertad1 SERTA domain containing 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8920897 Sertad1 SERTA domain containing 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1353244 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18097604 8920897 Sertad1 SERTA domain containing 1 gene DOID:9269 maple syrup urine disease ISO RGD:1353244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8920904 Pclo piccolo presynaptic cytomatrix protein gene DOID:0050834 CHARGE syndrome ISO RGD:69449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 8920904 Pclo piccolo presynaptic cytomatrix protein gene DOID:0060272 pontocerebellar hypoplasia type 3 ISO RGD:69449 D RGD:7240710 20180130 OMIM 8920904 Pclo piccolo presynaptic cytomatrix protein gene DOID:0060272 pontocerebellar hypoplasia type 3 ISO RGD:69449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PCLO-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 3 PMID:12771259|PMID:25741868|PMID:25832664|PMID:28492532 8920904 Pclo piccolo presynaptic cytomatrix protein gene DOID:10907 microcephaly ISO RGD:69449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8920904 Pclo piccolo presynaptic cytomatrix protein gene DOID:1826 epilepsy ISO RGD:69449 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 8920904 Pclo piccolo presynaptic cytomatrix protein gene DOID:1909 melanoma ISO RGD:69449 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8920904 Pclo piccolo presynaptic cytomatrix protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8920904 Pclo piccolo presynaptic cytomatrix protein gene DOID:5419 schizophrenia ISO RGD:69449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8920904 Pclo piccolo presynaptic cytomatrix protein gene DOID:630 genetic disease ISO RGD:69449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31785789 8920935 Znf771 zinc finger protein 771 gene DOID:630 genetic disease ISO RGD:1605390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920943 Ptchd4 patched domain containing 4 gene DOID:630 genetic disease ISO RGD:1606357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:1343628 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:25741868 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:0050975 spinocerebellar ataxia type 26 ISO RGD:1343628 D RGD:7240710 20180130 OMIM 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:0050975 spinocerebellar ataxia type 26 ISO RGD:1343628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 26 PMID:15732118|PMID:23001565|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33355653 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:0080600 COVID-19 ISO RGD:1343628 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:10283 prostate cancer ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:prostate (human) PMID:24589652|REF_RGD_ID:153297816 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:10534 stomach cancer ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:stomach (human) PMID:24589652|REF_RGD_ID:153297816 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:10534 stomach cancer disease_progression ISO RGD:1343628 D RGD:9068941 20220804 RGD human cells in mouse model PMID:19360331|REF_RGD_ID:153298969 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:1343628 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:brain: PMID:1331687|REF_RGD_ID:10401652 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:13938 amenorrhea ISO RGD:1343628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:1686 glaucoma ISO RGD:1343628 D RGD:9068941 20200609 RGD associated with Exfoliation Syndrome; PMID:20107165|REF_RGD_ID:10401222 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:1996 rectum adenocarcinoma ISO RGD:1343628 D RGD:9068941 20220804 RGD protein:increased expression:rectum (human) PMID:19360331|REF_RGD_ID:153298969 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:234 colon adenocarcinoma ISO RGD:1343628 D RGD:9068941 20220804 RGD protein:increased expression:colon(human) PMID:19360331|REF_RGD_ID:153298969 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:299 adenocarcinoma ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:3073 brain glioblastoma multiforme ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:brain (human) PMID:24589652|REF_RGD_ID:153297816 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:lung (human) PMID:27542262|REF_RGD_ID:153298910 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:blood serum (human) PMID:24377563|REF_RGD_ID:153298905 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:lung (human) PMID:21554491|REF_RGD_ID:153298904 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:4450 renal cell carcinoma ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:lung (human) PMID:24589652|REF_RGD_ID:153297816 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:630 genetic disease ISO RGD:1343628 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1343628 D RGD:9068941 20220804 RGD protein:increased expression, increased phosphorylation:liver (human) PMID:28060762|REF_RGD_ID:153298915 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:8398 osteoarthritis ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:9002801 Recurrence ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:61979 D RGD:9068941 20200609 RGD protein:hypophosphorylation:cortex, hippocampus: PMID:15211596|REF_RGD_ID:10401223 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21554491 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:61979 D RGD:9068941 20200609 RGD protein:decreased expression:cardiac muscle: PMID:7513958|REF_RGD_ID:10401649 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:9007980 Sleep Deprivation ISO RGD:61979 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; PMID:22917528|REF_RGD_ID:10401259 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1343628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8920953 Eef2 eukaryotic translation elongation factor 2 gene DOID:9256 colorectal cancer ISO RGD:1343628 D RGD:9068941 20220728 RGD protein:increased expression:colon (human) PMID:24589652|REF_RGD_ID:153297816 8920981 Atp13a1 ATPase 13A1 gene DOID:630 genetic disease ISO RGD:1346886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921014 Golga1 golgin A1 gene DOID:630 genetic disease ISO RGD:1322690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1344610 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:19878917|REF_RGD_ID:7175555 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:0111708 focal nonepidermolytic palmoplantar keratoderma ISO RGD:1344610 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma PMID:17576681|PMID:21285946|PMID:24452206|PMID:25285920|PMID:25741868|PMID:28492532|PMID:28587736|PMID:9536098 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 ISO RGD:1344610 D RGD:7240710 20180130 OMIM 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1344610 D RGD:7240710 20200826 OMIM 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1344610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 1 PMID:22405088|PMID:24452206|PMID:25741868|PMID:27273692|PMID:28492532|PMID:28587736 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:10024 migraine with aura ISO RGD:1344610 D RGD:9068941 20200609 RGD DNA:snp:intron:g.36670T>C rs7217270 (human) PMID:22162417|REF_RGD_ID:7175557 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:224 transient cerebral ischemia ISO RGD:1557695 D RGD:9068941 20200609 RGD PMID:22284622|REF_RGD_ID:7175554 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:2723 dermatitis ISO RGD:1564531 D RGD:9068941 20211029 RGD DNA:missense mutation:cds:G1717T (rat) PMID:16858425|REF_RGD_ID:150520053 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:3310 atopic dermatitis ISO RGD:1557695 D RGD:9068941 20220825 MouseDO OMIM:603165 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:3613 Canavan disease ISO RGD:1344610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:5419 schizophrenia ISO RGD:1344610 D RGD:9068941 20200609 RGD DNA:snps:intron:g.109277T>C, g.110078T>C (rs10162727, rs1035706) (human) PMID:21970977|REF_RGD_ID:7175558 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:630 genetic disease ISO RGD:1344610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:8881 rosacea ISO RGD:1344610 D RGD:9068941 20200609 RGD Erythematotelangiectatic Rosacea, Phymatous Rosacea; protein:increased expression:dermis (human) PMID:22189789|REF_RGD_ID:7175556 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:9002221 Hyperplasia ISO RGD:1344610 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:32535744 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type ISO RGD:1344610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:9007952 Cystinosis, Ocular Nonnephropathic ISO RGD:1344610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic PMID:10909858|PMID:27102039|PMID:28492532|PMID:7668285|PMID:9537412 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:9256 colorectal cancer ISO RGD:1344610 D RGD:9068941 20200609 RGD DNA:snp:exon:c.558A>C rs11078458 (human) PMID:20042636|REF_RGD_ID:7183081 8921061 Trpv3 transient receptor potential cation channel subfamily V member 3 gene DOID:987 alopecia ISO RGD:1564531 D RGD:9068941 20211029 RGD DNA:missense mutation:cds:G1717T (rat) PMID:16858425|REF_RGD_ID:150520053 8921083 Tomm20 translocase of outer mitochondrial membrane 20 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:735635 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 8921083 Tomm20 translocase of outer mitochondrial membrane 20 gene DOID:1540 parathyroid carcinoma ISO RGD:735635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8921083 Tomm20 translocase of outer mitochondrial membrane 20 gene DOID:630 genetic disease ISO RGD:735635 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921083 Tomm20 translocase of outer mitochondrial membrane 20 gene DOID:767 muscular atrophy ISO RGD:708467 D RGD:9068941 20200609 RGD PMID:20943961|REF_RGD_ID:13463487 8921083 Tomm20 translocase of outer mitochondrial membrane 20 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8921092 Rnf43 ring finger protein 43 gene DOID:0050869 villous adenoma ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:nonsense mutation:CDS:p.R113X (human) PMID:24512911|REF_RGD_ID:11552863 8921092 Rnf43 ring finger protein 43 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1342772 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8921092 Rnf43 ring finger protein 43 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1342772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 8921092 Rnf43 ring finger protein 43 gene DOID:10534 stomach cancer ISO RGD:69092 D RGD:9068941 20220311 RGD PMID:27006499|REF_RGD_ID:11354809 8921092 Rnf43 ring finger protein 43 gene DOID:10534 stomach cancer disease_progression ISO RGD:1342772 D RGD:9068941 20220303 RGD mRNA:altered expression:stomach (human) PMID:27514024|REF_RGD_ID:151361220 8921092 Rnf43 ring finger protein 43 gene DOID:1059 intellectual disability ISO RGD:1342772 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:37071997 8921092 Rnf43 ring finger protein 43 gene DOID:1380 endometrial cancer ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:mutations:multiple: (human) PMID:25344691|REF_RGD_ID:151361224 8921092 Rnf43 ring finger protein 43 gene DOID:218 ascending colon cancer exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) PMID:32236609|REF_RGD_ID:151361217 8921092 Rnf43 ring finger protein 43 gene DOID:219 colon cancer disease_progression ISO RGD:1342772 D RGD:9068941 20220224 RGD mRNA:increased expression:colon (human) PMID:26350900|REF_RGD_ID:11053240 8921092 Rnf43 ring finger protein 43 gene DOID:3070 high grade glioma exacerbates ISO RGD:1342772 D RGD:9068941 20220224 RGD protein:decreased expression:brain, brainstem (human) PMID:25755738|REF_RGD_ID:151361124 8921092 Rnf43 ring finger protein 43 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1342772 D RGD:9068941 20220303 RGD human cells in a mouse model PMID:30380024|REF_RGD_ID:151361216 8921092 Rnf43 ring finger protein 43 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1342772 D RGD:9068941 20220303 RGD human cells in a mouse model PMID:31286874|REF_RGD_ID:151361222 8921092 Rnf43 ring finger protein 43 gene DOID:4029 gastritis exacerbates ISO RGD:1332400 D RGD:9068941 20220224 RGD associated with Helicobacter Infections; DNA:missense mutations:CDS:p.H292R, p.H295R (mouse) PMID:30884828|REF_RGD_ID:151361146 8921092 Rnf43 ring finger protein 43 gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1342772 D RGD:9068941 20220224 RGD mRNA, protein:decreased expression:liver, bile duct epithelium (human) PMID:26980022|REF_RGD_ID:151361125 8921092 Rnf43 ring finger protein 43 gene DOID:4947 cholangiocarcinoma ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 8921092 Rnf43 ring finger protein 43 gene DOID:4947 cholangiocarcinoma exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with opisthorchiasis;DNA:SNPs:multiple: (human) PMID:22561520|REF_RGD_ID:151361227 8921092 Rnf43 ring finger protein 43 gene DOID:5517 stomach carcinoma ISO RGD:1342772 D RGD:9068941 20220311 RGD DNA:mutations:multiple: (human) PMID:24816253|REF_RGD_ID:151665118 8921092 Rnf43 ring finger protein 43 gene DOID:5517 stomach carcinoma exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD protein:decreased expression:stomach (human) PMID:26184844|REF_RGD_ID:11086719 8921092 Rnf43 ring finger protein 43 gene DOID:630 genetic disease ISO RGD:1342772 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8921092 Rnf43 ring finger protein 43 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD human cells in a mouse model PMID:23136185|REF_RGD_ID:151361219 8921092 Rnf43 ring finger protein 43 gene DOID:9000027 Microsatellite Instability ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with ascending colon cancer;DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) PMID:32236609|REF_RGD_ID:151361217 8921092 Rnf43 ring finger protein 43 gene DOID:9000027 Microsatellite Instability ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with colorectal cancer, endometrial cancer;DNA:mutations:multiple (human) PMID:25344691|REF_RGD_ID:151361224 8921092 Rnf43 ring finger protein 43 gene DOID:9000027 Microsatellite Instability ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with colorectal cancer, stomach cancer;protein:decreased expression:cytoplasm (human) PMID:26297255|REF_RGD_ID:11056888 8921092 Rnf43 ring finger protein 43 gene DOID:9000217 Stomach Neoplasms ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 8921092 Rnf43 ring finger protein 43 gene DOID:9001231 Sessile Serrated Polyposis Cancer Syndrome ISO RGD:1342772 D RGD:7240710 20190315 OMIM 8921092 Rnf43 ring finger protein 43 gene DOID:9001231 Sessile Serrated Polyposis Cancer Syndrome ISO RGD:1342772 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: RNF43-related condition | ClinVar Annotator: match by term: Sessile serrated polyposis cancer syndrome PMID:22552244|PMID:24512911|PMID:25741868|PMID:27081527|PMID:27582512|PMID:28492532|PMID:28767289|PMID:29330307|PMID:35907983 8921092 Rnf43 ring finger protein 43 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8921092 Rnf43 ring finger protein 43 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 8921092 Rnf43 ring finger protein 43 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8921092 Rnf43 ring finger protein 43 gene DOID:9006618 Liver Metastasis ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with colorectal adenocarcinoma;mRNA:increased expression:liver (human) PMID:28789449|REF_RGD_ID:151361221 8921092 Rnf43 ring finger protein 43 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342772 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24033266|PMID:25741868|PMID:28492532 8921092 Rnf43 ring finger protein 43 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344691 8921092 Rnf43 ring finger protein 43 gene DOID:9008330 Serrated Polyposis ISO RGD:1342772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colon serrated polyposis PMID:22552244|PMID:27081527 8921092 Rnf43 ring finger protein 43 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1342772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25344691 8921092 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer ISO RGD:1332400 D RGD:9068941 20220303 RGD protein:decreased expression:colorectum (mouse) PMID:29021137|REF_RGD_ID:151361223 8921092 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:mutations:multiple: (human) PMID:25344691|REF_RGD_ID:151361224 8921092 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer ISO RGD:735645 D RGD:9068941 20220303 RGD mRNA, protein:decreased expression:colorectum (human) PMID:27661107|REF_RGD_ID:151361218 8921092 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1342772 D RGD:9068941 20220224 RGD DNA:silent mutation, missense mutation:exon 3:p.R117R, p.R117H (rs2257205) (human) PMID:31140864|REF_RGD_ID:151361145 8921092 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:29756208|REF_RGD_ID:151361209 8921092 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD DNA:mutations:multiple: (human) PMID:33230914|REF_RGD_ID:151361228 8921092 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer onset ISO RGD:1342772 D RGD:9068941 20220311 RGD associated with Neoplasm Metastasis;DNA:mutations:multiple (human) PMID:33194656|REF_RGD_ID:151356979 8921092 Rnf43 ring finger protein 43 gene DOID:9256 colorectal cancer treatment ISO RGD:1342772 D RGD:9068941 20220311 RGD PMID:22202234|PMID:22977472|PMID:23267878|PMID:29473265|REF_RGD_ID:151665113|REF_RGD_ID:151665114|REF_RGD_ID:151665115|REF_RGD_ID:151665116 8921092 Rnf43 ring finger protein 43 gene DOID:9778 irritable bowel syndrome exacerbates ISO RGD:1342772 D RGD:9068941 20220303 RGD associated with Colitis-Associated Neoplasms;DNA:mutations:multiple: (human) PMID:29416670|REF_RGD_ID:151361225 8921114 Parg poly(ADP-ribose) glycohydrolase gene DOID:11372 megacolon ISO RGD:1351666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8921114 Parg poly(ADP-ribose) glycohydrolase gene DOID:3454 brain infarction ISO RGD:620387 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:12834903|REF_RGD_ID:2316742 8921114 Parg poly(ADP-ribose) glycohydrolase gene DOID:5154 borna disease ISO RGD:620387 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:18057239|REF_RGD_ID:2316738 8921114 Parg poly(ADP-ribose) glycohydrolase gene DOID:5419 schizophrenia ISO RGD:1351666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8921114 Parg poly(ADP-ribose) glycohydrolase gene DOID:630 genetic disease ISO RGD:1351666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921114 Parg poly(ADP-ribose) glycohydrolase gene DOID:9002170 Experimental Neoplasms ISO RGD:1351666 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:33044785 8921114 Parg poly(ADP-ribose) glycohydrolase gene DOID:9004994 Embryo Loss ISO RGD:1351666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15591342 8921114 Parg poly(ADP-ribose) glycohydrolase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:25628927|PMID:27003318 8921114 Parg poly(ADP-ribose) glycohydrolase gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:620387 D RGD:9068941 20200609 RGD PMID:15791006|REF_RGD_ID:13514040 8921114 Parg poly(ADP-ribose) glycohydrolase gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:733120 D RGD:9068941 20200609 RGD PMID:15791006|REF_RGD_ID:13514040 8921146 Pld1 phospholipase D1 gene DOID:0080633 developmental cardiac valvular defect ISO RGD:70829 D RGD:7240710 20200311 OMIM 8921146 Pld1 phospholipase D1 gene DOID:0080633 developmental cardiac valvular defect ISO RGD:70829 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiac valvular defect, developmental PMID:16199547|PMID:25741868|PMID:27799408|PMID:28492532|PMID:33645542 8921146 Pld1 phospholipase D1 gene DOID:1062 Fanconi syndrome ISO RGD:70829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8921146 Pld1 phospholipase D1 gene DOID:11832 visual epilepsy ISO RGD:3349 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15330336|REF_RGD_ID:2299910 8921146 Pld1 phospholipase D1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:70829 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:27713167|REF_RGD_ID:14392801 8921146 Pld1 phospholipase D1 gene DOID:3525 middle cerebral artery infarction ISO RGD:70829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 8921146 Pld1 phospholipase D1 gene DOID:630 genetic disease ISO RGD:70829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27513193|PMID:27799408|PMID:28492532|PMID:33645542 8921146 Pld1 phospholipase D1 gene DOID:9003936 Cardiomegaly ISO RGD:70829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15988127 8921188 Dynlrb2 dynein light chain roadblock-type 2 gene DOID:0110256 cataract 21 multiple types ISO RGD:1315823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:28492532 8921188 Dynlrb2 dynein light chain roadblock-type 2 gene DOID:630 genetic disease ISO RGD:1315823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921188 Dynlrb2 dynein light chain roadblock-type 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1315823 D RGD:9068941 20200609 RGD PMID:11750132|REF_RGD_ID:13208527 8921196 Ccnd2 cyclin D2 gene DOID:0050912 colon adenoma severity ISO RGD:730903 D RGD:9068941 20220311 RGD PMID:11375949|REF_RGD_ID:151665121 8921196 Ccnd2 cyclin D2 gene DOID:0050989 episodic ataxia type 1 ISO RGD:730903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8921196 Ccnd2 cyclin D2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter, breast PMID:14601057|REF_RGD_ID:2289156 8921196 Ccnd2 cyclin D2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:730903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8921196 Ccnd2 cyclin D2 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 8921196 Ccnd2 cyclin D2 gene DOID:10283 prostate cancer ISO RGD:730903 D RGD:9068941 20200609 RGD DNA, mRNA:hyperymethylation, decreased expression:promoter, prostate gland PMID:17016690|REF_RGD_ID:2289151 8921196 Ccnd2 cyclin D2 gene DOID:10283 prostate cancer disease_progression ISO RGD:736624 D RGD:9068941 20220317 RGD PMID:16322291|REF_RGD_ID:151665170 8921196 Ccnd2 cyclin D2 gene DOID:10534 stomach cancer ISO RGD:730903 D RGD:9068941 20220310 RGD protein:increased expression:stomach PMID:11552926|REF_RGD_ID:151665103 8921196 Ccnd2 cyclin D2 gene DOID:10534 stomach cancer disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:25960238|REF_RGD_ID:151665106 8921196 Ccnd2 cyclin D2 gene DOID:10534 stomach cancer severity ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:10666388|REF_RGD_ID:151665101 8921196 Ccnd2 cyclin D2 gene DOID:10908 hydrocephalus ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 8921196 Ccnd2 cyclin D2 gene DOID:10952 nephritis ISO RGD:621083 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex PMID:15654821|REF_RGD_ID:2289180 8921196 Ccnd2 cyclin D2 gene DOID:1591 renovascular hypertension ISO RGD:621083 D RGD:9068941 20220310 RGD protein:increased expression:left ventricle: PMID:26300251|REF_RGD_ID:151664604 8921196 Ccnd2 cyclin D2 gene DOID:1612 breast cancer disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:30308939|REF_RGD_ID:151665105 8921196 Ccnd2 cyclin D2 gene DOID:1686 glaucoma ISO RGD:621083 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18055803|REF_RGD_ID:2289160 8921196 Ccnd2 cyclin D2 gene DOID:1826 epilepsy ISO RGD:730903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:24705253|PMID:25741868|PMID:28492532|PMID:31056854|PMID:33818783 8921196 Ccnd2 cyclin D2 gene DOID:1875 impotence ISO RGD:621083 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:penis PMID:18068478|REF_RGD_ID:2289159 8921196 Ccnd2 cyclin D2 gene DOID:2043 hepatitis B ISO RGD:730903 D RGD:9068941 20220310 RGD mRNA:decreased expression:Peripheral Blood Mononuclear Cell PMID:33320844|REF_RGD_ID:151664743 8921196 Ccnd2 cyclin D2 gene DOID:2043 hepatitis B disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD DNA:SNP, haplotype:exon :rs1049606(human) PMID:20414251|REF_RGD_ID:151664744 8921196 Ccnd2 cyclin D2 gene DOID:2154 nephroblastoma ISO RGD:730903 D RGD:9068941 20200609 RGD PMID:15797629|REF_RGD_ID:2289153 8921196 Ccnd2 cyclin D2 gene DOID:219 colon cancer ISO RGD:621083 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:15059925|REF_RGD_ID:2289181 8921196 Ccnd2 cyclin D2 gene DOID:2671 transitional cell carcinoma ISO RGD:621083 D RGD:9068941 20200609 RGD DNA:hypermethylation:urinary bladder, urine PMID:17017434|REF_RGD_ID:2289150 8921196 Ccnd2 cyclin D2 gene DOID:2671 transitional cell carcinoma ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:urinary bladder, urine PMID:17017434|REF_RGD_ID:2289150 8921196 Ccnd2 cyclin D2 gene DOID:2671 transitional cell carcinoma ISO RGD:730904 D RGD:9068941 20200609 RGD DNA:hypermethylation:urinary bladder, urine PMID:17017434|REF_RGD_ID:2289150 8921196 Ccnd2 cyclin D2 gene DOID:2999 granulosa cell tumor ISO RGD:730903 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:11994539|REF_RGD_ID:2289157 8921196 Ccnd2 cyclin D2 gene DOID:3304 germinoma ISO RGD:730903 D RGD:9068941 20200609 RGD PMID:17167184|REF_RGD_ID:2296039 8921196 Ccnd2 cyclin D2 gene DOID:3457 invasive lobular carcinoma ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter, breast PMID:14601057|REF_RGD_ID:2289156 8921196 Ccnd2 cyclin D2 gene DOID:3571 liver cancer disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:30308939|REF_RGD_ID:151665105 8921196 Ccnd2 cyclin D2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:730903 D RGD:9068941 20220310 RGD DNA:hypermethylation:promoter PMID:30308939|REF_RGD_ID:151665105 8921196 Ccnd2 cyclin D2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730903 D RGD:9068941 20220310 RGD mRNA:increased expression:lung PMID:31253987|REF_RGD_ID:151665100 8921196 Ccnd2 cyclin D2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730903 D RGD:9068941 20220310 RGD protein:increased expression:lung PMID:30227870|REF_RGD_ID:151665108 8921196 Ccnd2 cyclin D2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:30308939|REF_RGD_ID:151665105 8921196 Ccnd2 cyclin D2 gene DOID:4440 seminoma ISO RGD:730903 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:15747581|REF_RGD_ID:2289154 8921196 Ccnd2 cyclin D2 gene DOID:5082 liver cirrhosis ISO RGD:730903 D RGD:9068941 20220310 RGD associated with hepatitis B;mRNA:decreased expression:Peripheral Blood Mononuclear Cell PMID:33320844|REF_RGD_ID:151664743 8921196 Ccnd2 cyclin D2 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:730903 D RGD:9068941 20220324 RGD PMID:14612939|PMID:9778110|REF_RGD_ID:151665142|REF_RGD_ID:151665349 8921196 Ccnd2 cyclin D2 gene DOID:5517 stomach carcinoma severity ISO RGD:730903 D RGD:9068941 20220311 RGD PMID:14612939|REF_RGD_ID:151665142 8921196 Ccnd2 cyclin D2 gene DOID:630 genetic disease ISO RGD:730903 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17486076|PMID:24705253|PMID:25741868|PMID:26795593 8921196 Ccnd2 cyclin D2 gene DOID:684 hepatocellular carcinoma ISO RGD:730903 D RGD:9068941 20220310 RGD DNA:hypermethylation:CpG site PMID:31059558|REF_RGD_ID:151665109 8921196 Ccnd2 cyclin D2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730903 D RGD:9068941 20220310 RGD associated with hepatitis B PMID:33320844|REF_RGD_ID:151664743 8921196 Ccnd2 cyclin D2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:730903 D RGD:9068941 20220310 RGD associated with hepatitis B PMID:33320844|REF_RGD_ID:151664743 8921196 Ccnd2 cyclin D2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730903 D RGD:9068941 20220317 RGD associated with Chronic Hepatitis C;DNA:SNP: :rs1049606(human) PMID:22004425|REF_RGD_ID:151665169 8921196 Ccnd2 cyclin D2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730903 D RGD:9068941 20220310 RGD associated with colorectal cancer;protein:increased expression:colorectum PMID:19508551|REF_RGD_ID:151665111 8921196 Ccnd2 cyclin D2 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:730903 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:11358847|REF_RGD_ID:2296041 8921196 Ccnd2 cyclin D2 gene DOID:9000784 Fibrosis ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16306446 8921196 Ccnd2 cyclin D2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730903 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:hypermethylated:brain PMID:15131050|REF_RGD_ID:2289155 8921196 Ccnd2 cyclin D2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17016690 8921196 Ccnd2 cyclin D2 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705253|PMID:29642246 8921196 Ccnd2 cyclin D2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17270028 8921196 Ccnd2 cyclin D2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17270028|REF_RGD_ID:2296038 8921196 Ccnd2 cyclin D2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8921196 Ccnd2 cyclin D2 gene DOID:9003041 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 ISO RGD:730903 D RGD:7240710 20180130 OMIM 8921196 Ccnd2 cyclin D2 gene DOID:9003041 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 ISO RGD:730903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 PMID:17486076|PMID:24705253|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31056854|PMID:33818783 8921196 Ccnd2 cyclin D2 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 8921196 Ccnd2 cyclin D2 gene DOID:9003816 Macrocephaly ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29642246 8921196 Ccnd2 cyclin D2 gene DOID:9003936 Cardiomegaly ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15576649 8921196 Ccnd2 cyclin D2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:730903 D RGD:9068941 20200626 RGD mRNA:increased expression:CD19+Bcell: PMID:20189883|REF_RGD_ID:32716380 8921196 Ccnd2 cyclin D2 gene DOID:9004207 Testicular Neoplasms ISO RGD:730903 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:15800920|REF_RGD_ID:2289152 8921196 Ccnd2 cyclin D2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621083 D RGD:9068941 20220310 RGD protein:increased expression:left ventricle: PMID:26300251|REF_RGD_ID:151664604 8921196 Ccnd2 cyclin D2 gene DOID:9006618 Liver Metastasis ISO RGD:730903 D RGD:9068941 20220310 RGD associated with colorectal cancer;protein:increased expression:colorectum PMID:19508551|REF_RGD_ID:151665111 8921196 Ccnd2 cyclin D2 gene DOID:9007102 Myocardial Ischemia ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8921196 Ccnd2 cyclin D2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:730903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8921196 Ccnd2 cyclin D2 gene DOID:9008114 Helicobacter Infections ISO RGD:730903 D RGD:9068941 20220311 RGD mRNA:increased expression:stomach: PMID:12133540|REF_RGD_ID:151665119 8921196 Ccnd2 cyclin D2 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:730903 D RGD:9068941 20220310 RGD associated with Gastrointestinal Neoplasms or gastritis PMID:11552926|REF_RGD_ID:151665103 8921196 Ccnd2 cyclin D2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8921196 Ccnd2 cyclin D2 gene DOID:9008939 Breast Neoplasms ISO RGD:730903 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast PMID:11289162|REF_RGD_ID:2289158 8921196 Ccnd2 cyclin D2 gene DOID:9008939 Breast Neoplasms ISO RGD:730903 D RGD:9068941 20200609 RGD DNA:hypermethylation:breast PMID:17549626|REF_RGD_ID:2289149 8921196 Ccnd2 cyclin D2 gene DOID:9119 acute myeloid leukemia ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27798625 8921196 Ccnd2 cyclin D2 gene DOID:9256 colorectal cancer ISO RGD:730903 D RGD:9068941 20220310 RGD mRNA, protein:increased expression:colorectum PMID:28933597|PMID:31511084|REF_RGD_ID:151664740|REF_RGD_ID:151664741 8921196 Ccnd2 cyclin D2 gene DOID:9256 colorectal cancer severity ISO RGD:730903 D RGD:9068941 20220310 RGD PMID:19508551|REF_RGD_ID:151665111 8921196 Ccnd2 cyclin D2 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:730903 D RGD:9068941 20220324 RGD PMID:20473882|REF_RGD_ID:151665334 8921196 Ccnd2 cyclin D2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730903 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24464100 8921196 Ccnd2 cyclin D2 gene DOID:9538 multiple myeloma ISO RGD:730903 D RGD:9068941 20200609 RGD PMID:15755896|REF_RGD_ID:1581171 8921205 Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8921205 Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23707396|PMID:23842646 8921205 Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8921205 Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8921245 Slc25a18 solute carrier family 25 member 18 gene DOID:0111996 immunodeficiency 51 ISO RGD:1350192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8921245 Slc25a18 solute carrier family 25 member 18 gene DOID:630 genetic disease ISO RGD:1350192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921245 Slc25a18 solute carrier family 25 member 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8921245 Slc25a18 solute carrier family 25 member 18 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1350192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8921275 Scmh1 Scm polycomb group protein homolog 1 gene DOID:0060224 atrial fibrillation ISO RGD:1314031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8921275 Scmh1 Scm polycomb group protein homolog 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8921275 Scmh1 Scm polycomb group protein homolog 1 gene DOID:0111938 immunodeficiency 24 ISO RGD:1314031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency PMID:28492532 8921275 Scmh1 Scm polycomb group protein homolog 1 gene DOID:630 genetic disease ISO RGD:1314031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921312 Ndufaf8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:0112091 nuclear type mitochondrial complex I deficiency 34 ISO RGD:1626571 D RGD:7240710 20200226 OMIM 8921312 Ndufaf8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:0112091 nuclear type mitochondrial complex I deficiency 34 ISO RGD:1626571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 PMID:25741868|PMID:31866046 8921312 Ndufaf8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:630 genetic disease ISO RGD:1626571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921312 Ndufaf8 NADH:ubiquinone oxidoreductase complex assembly factor 8 gene DOID:700 mitochondrial metabolism disease ISO RGD:1626571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:31866046 8921322 Pofut2 protein O-fucosyltransferase 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1316469 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8921322 Pofut2 protein O-fucosyltransferase 2 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8921322 Pofut2 protein O-fucosyltransferase 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8921322 Pofut2 protein O-fucosyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8921322 Pofut2 protein O-fucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1316469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921322 Pofut2 protein O-fucosyltransferase 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316469 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8921322 Pofut2 protein O-fucosyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8921322 Pofut2 protein O-fucosyltransferase 2 gene DOID:9263 homocystinuria ISO RGD:1316469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8921322 Pofut2 protein O-fucosyltransferase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316469 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8921335 Dnajc1 DnaJ heat shock protein family (Hsp40) member C1 gene DOID:1909 melanoma ISO RGD:1318035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8921335 Dnajc1 DnaJ heat shock protein family (Hsp40) member C1 gene DOID:630 genetic disease ISO RGD:1318035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921357 Cald1 caldesmon 1 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:730856 D RGD:9068941 20231102 RGD mRNA:increased expression:retina (human) PMID:35692390|REF_RGD_ID:401851065 8921357 Cald1 caldesmon 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8921357 Cald1 caldesmon 1 gene DOID:630 genetic disease ISO RGD:730856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921357 Cald1 caldesmon 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:730856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8921357 Cald1 caldesmon 1 gene DOID:7148 rheumatoid arthritis ISO RGD:730856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 8921357 Cald1 caldesmon 1 gene DOID:9000955 Acute Otitis Media IEP D RGD:11553828|PMID:26711468 20161013 RGD mRNA, protein:decreased expression:mucosa of middle ear 8921357 Cald1 caldesmon 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2256 D RGD:9068941 20200609 RGD PMID:10644879|REF_RGD_ID:2314036 8921405 Csnk1g1 casein kinase 1 gamma 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:733469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8921405 Csnk1g1 casein kinase 1 gamma 1 gene DOID:2717 Bloom syndrome ISO RGD:733469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8921405 Csnk1g1 casein kinase 1 gamma 1 gene DOID:630 genetic disease ISO RGD:733469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921405 Csnk1g1 casein kinase 1 gamma 1 gene DOID:9256 colorectal cancer ISO RGD:733469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8921439 Rnf8 ring finger protein 8 gene DOID:12849 autistic disorder ISO RGD:1317571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621663 8921439 Rnf8 ring finger protein 8 gene DOID:630 genetic disease ISO RGD:1317571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921463 Wipf1 WAS/WASL interacting protein family member 1 gene DOID:0060224 atrial fibrillation ISO RGD:736993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8921463 Wipf1 WAS/WASL interacting protein family member 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:736993 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8921463 Wipf1 WAS/WASL interacting protein family member 1 gene DOID:630 genetic disease ISO RGD:736993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8921463 Wipf1 WAS/WASL interacting protein family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8921463 Wipf1 WAS/WASL interacting protein family member 1 gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:736993 D RGD:7240710 20180130 OMIM 8921463 Wipf1 WAS/WASL interacting protein family member 1 gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:736993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 PMID:17576681|PMID:22231303|PMID:24033266|PMID:25741868|PMID:27742395|PMID:28492532|PMID:9536098 8921463 Wipf1 WAS/WASL interacting protein family member 1 gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:736993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8921510 Thada THADA armadillo repeat containing gene DOID:3883 Lynch syndrome ISO RGD:1323240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8921510 Thada THADA armadillo repeat containing gene DOID:630 genetic disease ISO RGD:1323240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921510 Thada THADA armadillo repeat containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372903 8921556 Niban1 niban apoptosis regulator 1 gene DOID:13580 cholestasis ISO RGD:736616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8921556 Niban1 niban apoptosis regulator 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8921556 Niban1 niban apoptosis regulator 1 gene DOID:630 genetic disease ISO RGD:736616 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921556 Niban1 niban apoptosis regulator 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8921573 Ebf2 EBF transcription factor 2 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1321920 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 8921573 Ebf2 EBF transcription factor 2 gene DOID:630 genetic disease ISO RGD:1321920 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921602 Prkg2 protein kinase cGMP-dependent 2 gene DOID:0060001 withdrawal disorder severity ISO RGD:3401 D RGD:9068941 20231221 RGD PMID:23113297|REF_RGD_ID:401938657 8921602 Prkg2 protein kinase cGMP-dependent 2 gene DOID:0081238 acromesomelic dysplasia-4 ISO RGD:733228 D RGD:7240710 20211201 OMIM 8921602 Prkg2 protein kinase cGMP-dependent 2 gene DOID:0081238 acromesomelic dysplasia-4 ISO RGD:733228 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 4 PMID:25741868|PMID:33106379|PMID:34782440 8921602 Prkg2 protein kinase cGMP-dependent 2 gene DOID:630 genetic disease ISO RGD:733228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921602 Prkg2 protein kinase cGMP-dependent 2 gene DOID:9002830 Spondylometaphyseal Dysplasia Pagnamenta Type ISO RGD:733228 D RGD:7240710 20211201 OMIM 8921602 Prkg2 protein kinase cGMP-dependent 2 gene DOID:9002830 Spondylometaphyseal Dysplasia Pagnamenta Type ISO RGD:733228 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, pagnamenta type PMID:34782440 8921602 Prkg2 protein kinase cGMP-dependent 2 gene DOID:9007661 Dwarfism ISO RGD:3401 D RGD:9068941 20211001 RGD DNA:deletion:cds (rat) PMID:15466490|PMID:19149413|REF_RGD_ID:150429792|REF_RGD_ID:150429793 8921636 Ccdc169 coiled-coil domain containing 169 gene DOID:630 genetic disease ISO RGD:2302126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921651 LOC102005702 chromosome unknown open reading frame, human C11orf58 gene DOID:1059 intellectual disability ISO RGD:1605695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8921665 Dera deoxyribose-phosphate aldolase gene DOID:0080600 COVID-19 ISO RGD:1352250 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8921665 Dera deoxyribose-phosphate aldolase gene DOID:630 genetic disease ISO RGD:1352250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921679 Fblim1 filamin binding LIM protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606792 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8921679 Fblim1 filamin binding LIM protein 1 gene DOID:630 genetic disease ISO RGD:1606792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:733938 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17389331|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19342262|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:21981106|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23093687|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24622368|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26092864|PMID:26180531|PMID:26208381|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27271189|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:29216354|PMID:29439679|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30352420|PMID:30386300|PMID:30395892|PMID:31208162|PMID:31727138|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33565752|PMID:33606663|PMID:34462253|PMID:34764980|PMID:35029855|PMID:36208030|PMID:37007940|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9536098|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060319 cardiac arrest treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:26010685|REF_RGD_ID:12791997 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:11226335|PMID:11395395|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16199547|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21674179|PMID:21716120|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27908292|PMID:28270372|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30515958|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11395395|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:14764815|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24044690|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:34764980|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26208381|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30352420|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32935446|PMID:33046911|PMID:33185579|PMID:34194474|PMID:34631896|PMID:34764980|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26208381|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30352420|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33565752|PMID:34194474|PMID:34462253|PMID:34631896|PMID:34764980|PMID:35029855|PMID:36208030|PMID:37007940|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17114887|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:18025408|PMID:18346985|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20573158|PMID:20685672|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24686051|PMID:25008049|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26208381|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28270372|PMID:28442472|PMID:28492532|PMID:28587604|PMID:29216354|PMID:29644095|PMID:29893194|PMID:30186238|PMID:30352420|PMID:30386300|PMID:30395892|PMID:30515958|PMID:31208162|PMID:31727138|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32333556|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33565752|PMID:34194474|PMID:34462253|PMID:34631896|PMID:34764980|PMID:35029855|PMID:36208030|PMID:37007940|PMID:8751851|PMID:8923011|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:733938 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10204114|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10685980|PMID:10720932|PMID:10857971|PMID:10923633|PMID:11272143|PMID:11318841|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15513899|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15842514|PMID:15855351|PMID:16186397|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18025464|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20922570|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21544516|PMID:21674179|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21989597|PMID:21992908|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22902787|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24080777|PMID:24332968|PMID:24401662|PMID:24616771|PMID:24645945|PMID:24768178|PMID:24814349|PMID:24959012|PMID:25306193|PMID:25518065|PMID:25741868|PMID:25765446|PMID:25871929|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26758964|PMID:27175728|PMID:27313609|PMID:27538677|PMID:27677908|PMID:27681997|PMID:27754802|PMID:27810688|PMID:27908292|PMID:27913849|PMID:28346775|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28757749|PMID:29127764|PMID:29207974|PMID:29216354|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31595705|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32333556|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33400071|PMID:33410562|PMID:33565752|PMID:33728157|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34426522|PMID:34462253|PMID:34631896|PMID:35402560|PMID:36208030|PMID:36407475|PMID:7716548|PMID:8650576|PMID:8923011|PMID:9075812|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0070218 familial hyperinsulinemic hypoglycemia 2 ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:733938 D RGD:7240710 20180912 OMIM 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:733938 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital isolated hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11018078|PMID:11226335|PMID:11272143|PMID:11395395|PMID:11457841|PMID:11697420|PMID:11867634|PMID:11999683|PMID:12166651|PMID:12169627|PMID:12199344|PMID:12364426|PMID:12559865|PMID:12627323|PMID:12784138|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15371948|PMID:15466080|PMID:15561897|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15807877|PMID:15842514|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17378627|PMID:17384337|PMID:17446535|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17597441|PMID:17668386|PMID:17823772|PMID:17919176|PMID:17990484|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18390792|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19475716|PMID:19766903|PMID:19933268|PMID:20042013|PMID:20215776|PMID:20427569|PMID:20432820|PMID:20573158|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20922570|PMID:20943779|PMID:20943781|PMID:21109997|PMID:21142918|PMID:21199866|PMID:21214702|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21617188|PMID:21674179|PMID:21716120|PMID:21814221|PMID:21835061|PMID:21851374|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:21992908|PMID:22151254|PMID:22210575|PMID:22308858|PMID:22311976|PMID:22533711|PMID:22562119|PMID:22662265|PMID:22704848|PMID:22796691|PMID:22802363|PMID:22802590|PMID:22855730|PMID:22876564|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23266803|PMID:23273570|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:23652837|PMID:23744072|PMID:23771172|PMID:23771920|PMID:23798684|PMID:23903354|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24080777|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24411943|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24750227|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25323548|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25720052|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26208381|PMID:26246406|PMID:26268944|PMID:26316440|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26545620|PMID:26545876|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27313609|PMID:27334808|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27691052|PMID:27754802|PMID:27810688|PMID:27889714|PMID:27908292|PMID:27913849|PMID:28018462|PMID:28095440|PMID:28270372|PMID:28346775|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28529015|PMID:28587604|PMID:28663158|PMID:28667717|PMID:28757749|PMID:28791793|PMID:29082728|PMID:29127764|PMID:29207974|PMID:29216354|PMID:29644095|PMID:29675256|PMID:29751826|PMID:30098243|PMID:30114684|PMID:30186238|PMID:30191644|PMID:30276209|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30447144|PMID:30462810|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31002010|PMID:31110826|PMID:31208162|PMID:31218401|PMID:31291970|PMID:31464105|PMID:31479591|PMID:31525223|PMID:31595705|PMID:31604004|PMID:31727138|PMID:31821855|PMID:31997554|PMID:3202066|PMID:32027066|PMID:32041611|PMID:32170320|PMID:32202736|PMID:32267248|PMID:32376986|PMID:32640185|PMID:32670376|PMID:32763092|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:33046911|PMID:33240318 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0070219 familial hyperinsulinemic hypoglycemia 1 ISO RGD:733938 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital isolated hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:33300273|PMID:33400071|PMID:33410562|PMID:33477506|PMID:33502730|PMID:33587123|PMID:33728157|PMID:34015902|PMID:34171966|PMID:34194474|PMID:34253504|PMID:34304300|PMID:34309670|PMID:34426522|PMID:34462253|PMID:34566892|PMID:34631896|PMID:34764980|PMID:34777243|PMID:34927408|PMID:34992182|PMID:35402560|PMID:36339418|PMID:36407475|PMID:36699461|PMID:7716548|PMID:8650576|PMID:8751851|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0080855 Parkinsonism ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:15857625|REF_RGD_ID:1598645 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:25306193|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27908292|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33240318|PMID:33400071|PMID:33410562|PMID:34194474|PMID:34309670|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733938 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24622368|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27681997|PMID:27908292|PMID:27913849|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28757749|PMID:29127764|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30297969|PMID:30447144|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33477506|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733938 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15855351|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18025408|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20685672|PMID:20799350|PMID:20943781|PMID:21422196|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22704848|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24332968|PMID:24401662|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27538677|PMID:28492532|PMID:29644095|PMID:29893194|PMID:30098243|PMID:30977832|PMID:31997554|PMID:32027066|PMID:32792356|PMID:32928245|PMID:8650576|PMID:9382893|PMID:9648840|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733938 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685980|PMID:10720932|PMID:10923633|PMID:10993895|PMID:11226335|PMID:11272143|PMID:11318841|PMID:11395395|PMID:11457841|PMID:11692183|PMID:11867634|PMID:11872696|PMID:11999683|PMID:12196481|PMID:12199344|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12784138|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:19933268|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21716120|PMID:21851374|PMID:21968111|PMID:21978130|PMID:21989597|PMID:21992908|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22796691|PMID:22802363|PMID:22802590|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23261959|PMID:23273570|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:23563683|PMID:23652837|PMID:23744072|PMID:23771172|PMID:23798684|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24622368|PMID:24645945|PMID:24686051|PMID:24750227|PMID:24814349|PMID:24937539|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25323548|PMID:25518065|PMID:25525159|PMID:25584046|PMID:25639667|PMID:25720052|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25931474|PMID:25972930|PMID:26180531|PMID:26208381|PMID:26246406|PMID:26268944|PMID:26316440|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27681997|PMID:27682711|PMID:27754802|PMID:27810688|PMID:27889714|PMID:27908292|PMID:27913849|PMID:28018462|PMID:28270372|PMID:28346775|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28663158|PMID:28757749|PMID:28791793|PMID:29082728|PMID:29127764|PMID:29207974|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30114684|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30447144|PMID:30462810|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31110826|PMID:31208162|PMID:31218401|PMID:31264968|PMID:31291970|PMID:31464105|PMID:31604004|PMID:31727138|PMID:31821855|PMID:31957151|PMID:31997554|PMID:3202066|PMID:32027066|PMID:32041611|PMID:32170320|PMID:32202736|PMID:32267248|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:33013711|PMID:33046911|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33477506|PMID:33502730|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34304300|PMID:34309670|PMID:34426522|PMID:34462253|PMID:34566892|PMID:34764980|PMID:34927408|PMID:35402560|PMID:36339418|PMID:36407475|PMID:7716548|PMID:8650576|PMID:8751851|PMID:8923011|PMID:9041101|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0111110 maturity-onset diabetes of the young type 13 ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13 PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0112262 leucine-sensitive hypoglycemia of infancy ISO RGD:733938 D RGD:7240710 20180130 OMIM 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:0112262 leucine-sensitive hypoglycemia of infancy ISO RGD:733938 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leucine-induced hypoglycemia | ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy PMID:10204114|PMID:10426386|PMID:10685980|PMID:10857971|PMID:11867634|PMID:15356046|PMID:15562009|PMID:15579781|PMID:16357843|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16613899|PMID:16885549|PMID:17378627|PMID:17466004|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18414213|PMID:18596924|PMID:18981553|PMID:19475716|PMID:19766903|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21674179|PMID:21814221|PMID:21989597|PMID:22151254|PMID:22210575|PMID:22533711|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23563683|PMID:24332968|PMID:24401662|PMID:25741868|PMID:25765446|PMID:25871929|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27538677|PMID:27573238|PMID:27677908|PMID:28492532|PMID:28587604|PMID:28757749|PMID:29644095|PMID:29751826|PMID:30098243|PMID:30297969|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31110826|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32928245|PMID:33400071|PMID:34171966|PMID:34194474|PMID:34426522|PMID:34462253|PMID:34777243|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9648840 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:1059 intellectual disability ISO RGD:733938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:10763 hypertension ISO RGD:733938 D RGD:9068941 20200609 RGD associated with obesity;DNA:polymorphism:exon: PMID:11030411|REF_RGD_ID:737749 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:11383 cryptorchidism ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:11446 sciatic neuropathy ISO RGD:3786 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:21907492|REF_RGD_ID:12791994 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:11717 neonatal diabetes ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:15513899|PMID:16613899|PMID:16885549|PMID:17389331|PMID:17446535|PMID:17668386|PMID:17919176|PMID:17957187|PMID:18025408|PMID:18025464|PMID:18436707|PMID:18767144|PMID:18981553|PMID:19095654|PMID:20301620|PMID:21109997|PMID:21989597|PMID:22451668|PMID:22749773|PMID:24622368|PMID:25741868|PMID:26208381|PMID:26467025|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356|PMID:32893419 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:11832 visual epilepsy ISO RGD:3786 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:dentate gyrus PMID:18021373|REF_RGD_ID:2301911 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:733938 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356|PMID:33565752|PMID:36208030 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17823772|PMID:18025408|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20573158|PMID:20685672|PMID:20799350|PMID:20943779|PMID:20943781|PMID:21378087|PMID:21422196|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24616771|PMID:24686051|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:28492532|PMID:28701683|PMID:29644095|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30977832|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32792356|PMID:32928245|PMID:34631896|PMID:34764980|PMID:8650576|PMID:8751851|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:733938 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17823772|PMID:18025408|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20573158|PMID:20685672|PMID:20799350|PMID:20943779|PMID:20943781|PMID:21378087|PMID:21422196|PMID:21674179|PMID:21716120|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24616771|PMID:24686051|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28492532|PMID:29644095|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30977832|PMID:31208162|PMID:31997554|PMID:32027066|PMID:32202736|PMID:32792356|PMID:32928245|PMID:33046911|PMID:34631896|PMID:34764980|PMID:8650576|PMID:8751851|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:733938 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy PMID:10194514|PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10338089|PMID:10400694|PMID:10426386|PMID:10447255|PMID:10685980|PMID:10720932|PMID:11226335|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11867634|PMID:11872696|PMID:11999683|PMID:12169627|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14764815|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17823772|PMID:18025408|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18981553|PMID:18988933|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20573158|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21378087|PMID:21422196|PMID:21674179|PMID:21716120|PMID:21835061|PMID:21968111|PMID:21978130|PMID:2198959|PMID:21989597|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22591706|PMID:22704848|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23744072|PMID:24033266|PMID:24044690|PMID:24072082|PMID:24332968|PMID:24401662|PMID:24616771|PMID:24686051|PMID:25117148|PMID:25201519|PMID:25323548|PMID:25741868|PMID:25765446|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27889714|PMID:27908292|PMID:28492532|PMID:29644095|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30447144|PMID:30977832|PMID:31208162|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32202736|PMID:32640185|PMID:32792356|PMID:32928245|PMID:33046911|PMID:34171966|PMID:34426522|PMID:34462253|PMID:34631896|PMID:34764980|PMID:8650576|PMID:8751851|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:1824 status epilepticus ISO RGD:3786 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:22050960|REF_RGD_ID:5686281 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:1882 atrial heart septal defect ISO RGD:733938 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356|PMID:33565752|PMID:36208030 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:1909 melanoma ISO RGD:733938 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism ISO RGD:733938 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685980|PMID:10720932|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11226335|PMID:11272143|PMID:11395395|PMID:11457841|PMID:11697420|PMID:11867634|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15842514|PMID:15855351|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22562119|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22802590|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23744072|PMID:23771172|PMID:23771920|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26246406|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27682711|PMID:27754802|PMID:27908292|PMID:28095440|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29207974|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30297969|PMID:30352420|PMID:30386300|PMID:30447144|PMID:30515958|PMID:31464105|PMID:31604004|PMID:32027066|PMID:32333556|PMID:32670376|PMID:32792356|PMID:32934261|PMID:32935446|PMID:33185579|PMID:33240318|PMID:33400071|PMID:33410562|PMID:34194474|PMID:34309670|PMID:34631896|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism ISO RGD:733938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11226335|PMID:11272143|PMID:11318841|PMID:11395395|PMID:11457841|PMID:11692183|PMID:11697420|PMID:11867634|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15842514|PMID:15855351|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:19933268|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22562119|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22802363|PMID:22802590|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23744072|PMID:23771172|PMID:23771920|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26246406|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28095440|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28663158|PMID:28701683|PMID:28757749|PMID:29207974|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30447144|PMID:30462810|PMID:30515958|PMID:31291970|PMID:31464105|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32333556|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32934261|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33240318|PMID:33300273|PMID:33400071|PMID:33410562|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:34566892|PMID:34631896|PMID:34777243|PMID:35402560|PMID:7716548|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism ISO RGD:733938 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive PMID:10202168|PMID:10204114|PMID:1021286|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:10857971|PMID:10923633|PMID:10993895|PMID:11226335|PMID:11272143|PMID:11318841|PMID:11395395|PMID:11457841|PMID:11692183|PMID:11697420|PMID:11867634|PMID:11872696|PMID:11999683|PMID:12166651|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15842514|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:19933268|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22562119|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22802363|PMID:22802590|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23226049|PMID:23261959|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23744072|PMID:23771172|PMID:23771920|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25639667|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26246406|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26594346|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28095440|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28663158|PMID:28757749|PMID:29207974|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30447144|PMID:30462810|PMID:30515958|PMID:31291970|PMID:31464105|PMID:31604004|PMID:31821855|PMID:32027066|PMID:32041611|PMID:32333556|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32934261|PMID:32935446|PMID:33046911|PMID:33185579|PMID:33240318|PMID:33300273|PMID:33400071|PMID:33410562|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34426522|PMID:34462253|PMID:34566892|PMID:34631896|PMID:34777243|PMID:35402560|PMID:36339418|PMID:36407475|PMID:7716548|PMID:8923011|PMID:9041101|PMID:9075812|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:2018 hyperinsulinism susceptibility ISO RGD:733938 D RGD:9068941 20200609 RGD PMID:12199344|REF_RGD_ID:1598639 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:23149556|PMID:24602692|REF_RGD_ID:12790979|REF_RGD_ID:12791996 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:4724 brain edema ISO RGD:733938 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebral edema PMID:25741868|PMID:26467025|PMID:27677908|PMID:28492532 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:4724 brain edema treatment ISO RGD:3786 D RGD:9068941 20200609 RGD associated with Neoplasms, Experimental PMID:23633925|REF_RGD_ID:12791991 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:6000 congestive heart failure ISO RGD:733938 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356|PMID:33565752|PMID:36208030 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:630 genetic disease ISO RGD:733938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10204114|PMID:10447255|PMID:10487673|PMID:10923633|PMID:11272143|PMID:11999683|PMID:12941782|PMID:14692646|PMID:14715863|PMID:15356046|PMID:15562009|PMID:15579781|PMID:16357843|PMID:16429405|PMID:16860127|PMID:17378627|PMID:18339976|PMID:18414213|PMID:18493152|PMID:20672374|PMID:21716120|PMID:21851374|PMID:23345197|PMID:24401662|PMID:25306193|PMID:25972930|PMID:26467025|PMID:27175728|PMID:27754802|PMID:28492532|PMID:7716548|PMID:8923011|PMID:9618169|PMID:9648840 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:630 genetic disease ISO RGD:733938 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10204114|PMID:10447255|PMID:10487673|PMID:10923633|PMID:11272143|PMID:11999683|PMID:12941782|PMID:14692646|PMID:14715863|PMID:15111507|PMID:15356046|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15807877|PMID:15842514|PMID:16186397|PMID:16357843|PMID:16429405|PMID:16613899|PMID:16860127|PMID:16885549|PMID:17378627|PMID:18025408|PMID:18339976|PMID:18414213|PMID:18493152|PMID:18599530|PMID:18662362|PMID:18758683|PMID:18767144|PMID:18981553|PMID:19475716|PMID:20672374|PMID:20685672|PMID:20943779|PMID:21544516|PMID:21716120|PMID:21851374|PMID:21989597|PMID:22704848|PMID:22902787|PMID:23275527|PMID:23345197|PMID:24401662|PMID:24411943|PMID:24768178|PMID:24959012|PMID:25008049|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26221353|PMID:26268944|PMID:26448950|PMID:26467025|PMID:27175728|PMID:27538677|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28442472|PMID:28492532|PMID:31291970|PMID:31604004|PMID:32027066|PMID:32792356|PMID:32928245|PMID:33046911|PMID:33300273|PMID:33410562|PMID:34304300|PMID:34309670|PMID:34927408|PMID:35402560|PMID:36407475|PMID:7716548|PMID:8923011|PMID:9075812|PMID:9618169|PMID:9648840 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:8488 polyhydramnios ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:8534 gastroesophageal reflux disease ISO RGD:733938 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Gastroesophageal reflux PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356|PMID:33565752|PMID:36208030 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries ISO RGD:733938 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:20410530|REF_RGD_ID:12790978 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736889 D RGD:9068941 20200609 RGD PMID:20410530|REF_RGD_ID:12790978 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:20410530|PMID:25763638|REF_RGD_ID:12790978|REF_RGD_ID:12791993 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:24114458|REF_RGD_ID:10003028 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9000998 Brain Injuries treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:21107131|REF_RGD_ID:12791995 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9001031 Retrognathia ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: retrognathism PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9001250 Transient Neonatal Diabetes Mellitus, 3 ISO RGD:733938 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3 PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:29893194|PMID:32935446|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733938 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25117148|PMID:25741868 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9002221 Hyperplasia ISO RGD:733938 D RGD:9068941 20200609 RGD associated with Hyperinsulinism;DNA:missense mutations:exon:p.R1353P, p.R1421C, p.R1494W (human) PMID:9769320|REF_RGD_ID:2325205 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 ISO RGD:733938 D RGD:7240710 20200520 OMIM 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 ISO RGD:733938 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3 PMID:10204114|PMID:10426386|PMID:10685980|PMID:10857971|PMID:10923633|PMID:11697420|PMID:11867634|PMID:14715863|PMID:15513899|PMID:15562009|PMID:16357843|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16613899|PMID:16885549|PMID:17378627|PMID:17466004|PMID:17539904|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18414213|PMID:18436707|PMID:18596924|PMID:18767144|PMID:18981553|PMID:19475716|PMID:19766903|PMID:20301620|PMID:20685672|PMID:20799350|PMID:20849526|PMID:21142918|PMID:21378087|PMID:21814221|PMID:21989597|PMID:22151254|PMID:22210575|PMID:22533711|PMID:22802590|PMID:23067144|PMID:23275527|PMID:23345197|PMID:24434300|PMID:24686051|PMID:25639667|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26180531|PMID:26431509|PMID:26467025|PMID:26594346|PMID:27538677|PMID:27573238|PMID:27677908|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28757749|PMID:29751826|PMID:30114684|PMID:30297969|PMID:30447144|PMID:30515958|PMID:31464105|PMID:31604004|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:33400071|PMID:34171966|PMID:34194474|PMID:34426522|PMID:34462253|PMID:34777243|PMID:8923011|PMID:9536098|PMID:9618169|PMID:9648840 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9003816 Macrocephaly ISO RGD:733938 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356|PMID:33565752|PMID:36208030 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9005129 Transient Neonatal Diabetes Mellitus, 2 ISO RGD:733938 D RGD:7240710 20180130 OMIM 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9005129 Transient Neonatal Diabetes Mellitus, 2 ISO RGD:733938 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:10204114|PMID:10338089|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10685980|PMID:10720932|PMID:10857971|PMID:10923633|PMID:11272143|PMID:11867634|PMID:11999683|PMID:12166651|PMID:12784138|PMID:12941782|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15842514|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16367916|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:17236890|PMID:17378627|PMID:17389331|PMID:17446535|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:17957187|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18346985|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18599530|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19475716|PMID:19766903|PMID:19933268|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20922570|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21716120|PMID:21814221|PMID:21851374|PMID:21978130|PMID:21989597|PMID:22151254|PMID:22210575|PMID:22451668|PMID:22533711|PMID:22562119|PMID:22704848|PMID:22749773|PMID:22802363|PMID:22855730|PMID:22902787|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:23652837|PMID:23744072|PMID:23798684|PMID:23807917|PMID:24033266|PMID:24080777|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24622368|PMID:24645945|PMID:24750227|PMID:24768178|PMID:24814349|PMID:24937539|PMID:24959012|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25518065|PMID:25525159|PMID:25555642|PMID:25584046|PMID:25720052|PMID:25741868|PMID:25765446|PMID:25871929|PMID:25931474|PMID:25955821|PMID:25972930|PMID:26180531|PMID:26221353|PMID:26316440|PMID:26379717|PMID:26431509|PMID:26448950|PMID:26467025|PMID:26545620|PMID:26740944|PMID:26758964|PMID:26839896|PMID:27175728|PMID:27188453|PMID:27313609|PMID:27538677|PMID:27573238|PMID:27677908|PMID:27681997|PMID:27682711|PMID:27754802|PMID:27908292|PMID:27913849|PMID:28270372|PMID:28346775|PMID:28442472|PMID:28492532|PMID:28529015|PMID:28587604|PMID:28663158|PMID:28757749|PMID:29127764|PMID:29207974|PMID:29216354|PMID:29644095|PMID:29751826|PMID:30098243|PMID:30186238|PMID:30191644|PMID:30276209|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30447144|PMID:30462810|PMID:30515958|PMID:30977832|PMID:31002010|PMID:31264968|PMID:31291970|PMID:31525223|PMID:31595705|PMID:31604004|PMID:31821855|PMID:32027066|PMID:32041611|PMID:32170320|PMID:32267248|PMID:32376986|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:33046911|PMID:33300273|PMID:33400071|PMID:33410562|PMID:33728157|PMID:34171966|PMID:34194474|PMID:34253504|PMID:34309670|PMID:34426522|PMID:34462253|PMID:34631896|PMID:34777243|PMID:35029855|PMID:35402560|PMID:36208030|PMID:36339418|PMID:36407475|PMID:36699461|PMID:37007940|PMID:7716548|PMID:8650576|PMID:8923011|PMID:9075812|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9568693|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9005603 Muscle Hypotonia ISO RGD:733938 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9005749 Necrosis ISO RGD:3786 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:17657312|REF_RGD_ID:2301913 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9005930 Endotoxemia ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:17285300|REF_RGD_ID:2301914 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006009 Neonatal Hypoglycemia, Simulating Foetopathia Diabetica ISO RGD:733938 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Neonatal hypoglycemia PMID:10857971|PMID:16885549|PMID:17466004|PMID:21814221|PMID:25741868|PMID:26467025|PMID:28492532 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006257 Growth Disorders ISO RGD:733938 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356|PMID:33565752|PMID:36208030 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:733938 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL PMID:10194514|PMID:10334322|PMID:10338089|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685980|PMID:10720932|PMID:10923633|PMID:11226335|PMID:11272143|PMID:11318841|PMID:11692183|PMID:11872696|PMID:11999683|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12784138|PMID:12941782|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16416420|PMID:16429405|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18339976|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20215776|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20943781|PMID:21199866|PMID:21321069|PMID:21378087|PMID:21716120|PMID:21835061|PMID:21851374|PMID:21968111|PMID:21989597|PMID:21992908|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22591706|PMID:22704848|PMID:22796691|PMID:22802590|PMID:22855730|PMID:23067144|PMID:23261959|PMID:23275527|PMID:23345197|PMID:23506826|PMID:23652837|PMID:23744072|PMID:23771172|PMID:24145932|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24645945|PMID:24686051|PMID:24937539|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25323548|PMID:25518065|PMID:25584046|PMID:25639667|PMID:25741868|PMID:25781672|PMID:25931474|PMID:25972930|PMID:26180531|PMID:26431509|PMID:26467025|PMID:26545620|PMID:26740944|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27682711|PMID:27754802|PMID:27810688|PMID:27908292|PMID:28270372|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28667717|PMID:29082728|PMID:29893194|PMID:30114684|PMID:30186238|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30395892|PMID:30462810|PMID:30487145|PMID:31218401|PMID:31291970|PMID:31464105|PMID:31479591|PMID:31525223|PMID:31821855|PMID:3202066|PMID:32027066|PMID:32170320|PMID:32267248|PMID:32670376|PMID:32792356|PMID:33046911|PMID:33240318|PMID:33410562|PMID:33477506|PMID:33587123|PMID:34253504|PMID:34566892|PMID:34764980|PMID:34992182|PMID:36339418|PMID:36699461|PMID:7716548|PMID:8751851|PMID:8923011|PMID:9041101|PMID:9536098|PMID:9618169|PMID:9648840|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9007096 Stroke ISO RGD:733938 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:17673715|REF_RGD_ID:2301906 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9007290 Traumatic Subarachnoid Hemorrhage treatment ISO RGD:3786 D RGD:9068941 20200609 RGD PMID:18854840|REF_RGD_ID:2325137 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9007661 Dwarfism ISO RGD:733938 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Short stature PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356|PMID:33565752|PMID:36208030 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736889 D RGD:9068941 20200609 RGD PMID:18316485|REF_RGD_ID:2301903 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:733938 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25117148|PMID:25741868 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9351 diabetes mellitus ISO RGD:733938 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10204114|PMID:10685979|PMID:10685980|PMID:10720932|PMID:10828824|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15562009|PMID:16357843|PMID:16416420|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17389331|PMID:17446535|PMID:17668386|PMID:18025408|PMID:18025464|PMID:18346985|PMID:18414213|PMID:18599530|PMID:18981553|PMID:19342262|PMID:20685672|PMID:20799350|PMID:20943781|PMID:21378087|PMID:21989597|PMID:22210575|PMID:22562119|PMID:22855730|PMID:23093687|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23771920|PMID:24622368|PMID:24768178|PMID:24814349|PMID:25306193|PMID:25525159|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26839896|PMID:27271189|PMID:27538677|PMID:27681997|PMID:28095440|PMID:28346775|PMID:28492532|PMID:29207974|PMID:29216354|PMID:30487145|PMID:31002010|PMID:3202066|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:33300273|PMID:33477506|PMID:33565752|PMID:33587123|PMID:33606663|PMID:36208030|PMID:9618169|PMID:9648840 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:7240710 20180130 OMIM 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11872696|PMID:12196481|PMID:12475776|PMID:15579791|PMID:15797964|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16442101|PMID:16455067|PMID:16885549|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20424228|PMID:20799350|PMID:20849526|PMID:20943779|PMID:21142918|PMID:21378087|PMID:21544516|PMID:21674179|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22704848|PMID:22855730|PMID:23275527|PMID:23345197|PMID:24401662|PMID:25306193|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29751826|PMID:30098243|PMID:30297969|PMID:30447144|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32893419|PMID:34194474|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:25306193|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27908292|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:34194474|PMID:34309670|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10204114|PMID:10426386|PMID:10685980|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16885549|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17539904|PMID:17823772|PMID:18025408|PMID:18025464|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18981553|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21378087|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21989597|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22855730|PMID:23067144|PMID:23275527|PMID:23301914|PMID:23345197|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24622368|PMID:25306193|PMID:25741868|PMID:25765446|PMID:25972930|PMID:26180531|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27188453|PMID:27538677|PMID:27681997|PMID:27908292|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28701683|PMID:28757749|PMID:29127764|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30186238|PMID:30297969|PMID:30386300|PMID:30447144|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31604004|PMID:31997554|PMID:32027066|PMID:32041611|PMID:32640185|PMID:32792356|PMID:32893419|PMID:32928245|PMID:33013711|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34309670|PMID:34462253|PMID:35402560|PMID:8650576|PMID:8923011|PMID:9382893|PMID:9519757|PMID:9648840|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733938 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10202168|PMID:10204114|PMID:1021286|PMID:10334322|PMID:10426386|PMID:10447255|PMID:10487673|PMID:10615958|PMID:10685980|PMID:10720932|PMID:10923633|PMID:10993895|PMID:11226335|PMID:11272143|PMID:11318841|PMID:11395395|PMID:11457841|PMID:11692183|PMID:11867634|PMID:11872696|PMID:11999683|PMID:12196481|PMID:12199344|PMID:12475776|PMID:12540637|PMID:12540638|PMID:12784138|PMID:12941782|PMID:14593442|PMID:14692646|PMID:14715863|PMID:14764815|PMID:15111507|PMID:15356046|PMID:15466080|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15797964|PMID:15807877|PMID:15855351|PMID:16186397|PMID:16199547|PMID:16357843|PMID:16380471|PMID:16416420|PMID:16429405|PMID:16442101|PMID:16455067|PMID:16613899|PMID:16860127|PMID:16882742|PMID:16885549|PMID:16969006|PMID:17236890|PMID:17257281|PMID:17378627|PMID:17384337|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17539904|PMID:17575084|PMID:17576681|PMID:17668386|PMID:17823772|PMID:17919176|PMID:18025408|PMID:18025464|PMID:18073294|PMID:18339976|PMID:18414213|PMID:18436707|PMID:18493152|PMID:18596924|PMID:18758683|PMID:18767144|PMID:18796520|PMID:18981553|PMID:18988933|PMID:19151370|PMID:19214942|PMID:19233137|PMID:19475716|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:19766903|PMID:19933268|PMID:20301620|PMID:20424228|PMID:20427569|PMID:20432820|PMID:20672374|PMID:20685672|PMID:20799350|PMID:20849526|PMID:20943779|PMID:20943781|PMID:21142918|PMID:21321069|PMID:21378087|PMID:21411514|PMID:21422196|PMID:21536946|PMID:21544516|PMID:21674179|PMID:21716120|PMID:21851374|PMID:21968111|PMID:21978130|PMID:21989597|PMID:21992908|PMID:22082043|PMID:22151254|PMID:22163043|PMID:22209866|PMID:22210575|PMID:22264780|PMID:22533711|PMID:22591706|PMID:22704848|PMID:22749773|PMID:22796691|PMID:22802363|PMID:22802590|PMID:22855730|PMID:22876564|PMID:23067144|PMID:23261959|PMID:23273570|PMID:23275527|PMID:23301914|PMID:23345197|PMID:23506826|PMID:23563683|PMID:23652837|PMID:23744072|PMID:23771172|PMID:23798684|PMID:24145932|PMID:24332968|PMID:24401662|PMID:24434300|PMID:24616771|PMID:24622368|PMID:24645945|PMID:24686051|PMID:24750227|PMID:24814349|PMID:24937539|PMID:25008049|PMID:25117148|PMID:25201519|PMID:25306193|PMID:25323548|PMID:25518065|PMID:25525159|PMID:25584046|PMID:25639667|PMID:25720052|PMID:25741868|PMID:25765446|PMID:25781672|PMID:25931474|PMID:25972930|PMID:26180531|PMID:26208381|PMID:26246406|PMID:26268944|PMID:26316440|PMID:26379717|PMID:26431509|PMID:26467025|PMID:26740944|PMID:27175728|PMID:27188453|PMID:27538677|PMID:27573238|PMID:27681997|PMID:27682711|PMID:27754802|PMID:27810688|PMID:27889714|PMID:27908292|PMID:27913849|PMID:28018462|PMID:28270372|PMID:28346775|PMID:28439221|PMID:28442472|PMID:28492532|PMID:28587604|PMID:28663158|PMID:28757749|PMID:28791793|PMID:29082728|PMID:29127764|PMID:29207974|PMID:29644095|PMID:29751826|PMID:29893194|PMID:30098243|PMID:30114684|PMID:30186238|PMID:30191644|PMID:30297969|PMID:30352420|PMID:30354297|PMID:30386300|PMID:30447144|PMID:30462810|PMID:30487145|PMID:30515958|PMID:30977832|PMID:31110826|PMID:31208162|PMID:31218401|PMID:31264968|PMID:31291970|PMID:31464105|PMID:31604004|PMID:31727138|PMID:31821855|PMID:31957151|PMID:31997554|PMID:3202066|PMID:32027066|PMID:32041611|PMID:32170320|PMID:32202736|PMID:32267248|PMID:32640185|PMID:32670376|PMID:32792356|PMID:32893419|PMID:32928245|PMID:32934261|PMID:33013711|PMID:33046911|PMID:33240318|PMID:33400071|PMID:33410562|PMID:33477506|PMID:33502730|PMID:33587123|PMID:34171966|PMID:34194474|PMID:34304300|PMID:34309670|PMID:34426522|PMID:34462253|PMID:34566892|PMID:34764980|PMID:34927408|PMID:35402560|PMID:36339418|PMID:36407475|PMID:7716548|PMID:8650576|PMID:8751851|PMID:8923011|PMID:9041101|PMID:9382893|PMID:9519757|PMID:9536098|PMID:9618169|PMID:9642650|PMID:9648840|PMID:9769320|PMID:9867219 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733938 D RGD:9068941 20200609 RGD PMID:15579791|REF_RGD_ID:1598640 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733938 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.R248Q, p.K1521N, p.Y356C (human) PMID:18346985|REF_RGD_ID:2301901 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18025464 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9970 obesity ISO RGD:733938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:15562009|PMID:16199547|PMID:17236890|PMID:20685672|PMID:23275527|PMID:23345197|PMID:24401662|PMID:25741868|PMID:26740944|PMID:28492532 8921689 Abcc8 ATP binding cassette subfamily C member 8 gene DOID:9993 hypoglycemia ISO RGD:733938 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:23275527|PMID:25741868|PMID:27538677|PMID:32027066|PMID:32792356|PMID:33565752|PMID:36208030 8921737 Sap18 Sin3A associated protein 18 gene DOID:630 genetic disease ISO RGD:1321265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921746 Ankrd54 ankyrin repeat domain 54 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1605877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8921746 Ankrd54 ankyrin repeat domain 54 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1605877 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8921746 Ankrd54 ankyrin repeat domain 54 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1605877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8921746 Ankrd54 ankyrin repeat domain 54 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1605877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8921746 Ankrd54 ankyrin repeat domain 54 gene DOID:630 genetic disease ISO RGD:1605877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921758 Prokr2 prokineticin receptor 2 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1353227 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:18559922|PMID:24830383|PMID:25636053|PMID:25741868|PMID:26467025|PMID:27899157|PMID:28209183|PMID:28492532|PMID:28754744|PMID:29161432|PMID:31781422|PMID:33587123|PMID:34348883|PMID:36694982 8921758 Prokr2 prokineticin receptor 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:11259612|PMID:17054399|PMID:18559922|PMID:18682503|PMID:18826963|PMID:20022991|PMID:20696889|PMID:21858136|PMID:22466334|PMID:22927827|PMID:23386640|PMID:23533228|PMID:23596439|PMID:23643382|PMID:24031091|PMID:24276467|PMID:25741868|PMID:28492532|PMID:33227799|PMID:4276467|PMID:8954047 8921758 Prokr2 prokineticin receptor 2 gene DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia ISO RGD:1353227 D RGD:7240710 20190102 OMIM 8921758 Prokr2 prokineticin receptor 2 gene DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia ISO RGD:1353227 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 3 PMID:11259612|PMID:16537498|PMID:17054399|PMID:1855992|PMID:18559922|PMID:18682503|PMID:18723471|PMID:18826963|PMID:18985070|PMID:20022991|PMID:20502053|PMID:20696889|PMID:20981092|PMID:21209029|PMID:21247312|PMID:21858136|PMID:22035731|PMID:22319038|PMID:22399515|PMID:22466334|PMID:22745195|PMID:22773735|PMID:22927827|PMID:22995991|PMID:23082007|PMID:23200691|PMID:23386640|PMID:23533228|PMID:23596439|PMID:23643382|PMID:2403109|PMID:24031091|PMID:24204987|PMID:24276467|PMID:24753254|PMID:24830383|PMID:25531638|PMID:25636053|PMID:25678757|PMID:25741868|PMID:25759380|PMID:26031747|PMID:26467025|PMID:27899157|PMID:28209183|PMID:28492532|PMID:28754744|PMID:29161432|PMID:30311386|PMID:30430143|PMID:30576231|PMID:30669598|PMID:30773290|PMID:31093944|PMID:31781422|PMID:32763379|PMID:32870266|PMID:33227799|PMID:33468338|PMID:33587123|PMID:33729509|PMID:34348883|PMID:34539727|PMID:35173048|PMID:35669683|PMID:36694982|PMID:36843573|PMID:4276467|PMID:8954047 8921758 Prokr2 prokineticin receptor 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1353227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8921758 Prokr2 prokineticin receptor 2 gene DOID:13938 amenorrhea ISO RGD:1353227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:17054399|PMID:18682503|PMID:18826963|PMID:20022991|PMID:22466334|PMID:22745195|PMID:24830383|PMID:25741868|PMID:28492532|PMID:29161432|PMID:30773290|PMID:31093944|PMID:32870266 8921758 Prokr2 prokineticin receptor 2 gene DOID:1826 epilepsy ISO RGD:1353227 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Seizure PMID:17054399|PMID:18826963|PMID:20022991|PMID:21247312|PMID:21858136|PMID:22319038|PMID:22399515|PMID:22745195|PMID:23386640|PMID:23596439|PMID:24830383|PMID:25759380|PMID:28492532|PMID:29161432|PMID:31093944|PMID:36694982 8921758 Prokr2 prokineticin receptor 2 gene DOID:3614 Kallmann syndrome ISO RGD:1353227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Anosmic hypogonadism PMID:17054399|PMID:18682503|PMID:18826963|PMID:20022991|PMID:22466334|PMID:22745195|PMID:24830383|PMID:25741868|PMID:28492532|PMID:29161432|PMID:31093944|PMID:32870266 8921758 Prokr2 prokineticin receptor 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1353227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8921758 Prokr2 prokineticin receptor 2 gene DOID:5223 infertility ISO RGD:1353227 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Infertility PMID:16537498|PMID:17054399|PMID:18559922|PMID:18682503|PMID:18723471|PMID:18826963|PMID:20022991|PMID:20696889|PMID:21209029|PMID:21247312|PMID:22035731|PMID:22466334|PMID:22773735|PMID:23386640|PMID:23643382|PMID:24031091|PMID:24276467|PMID:24830383|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29161432 8921758 Prokr2 prokineticin receptor 2 gene DOID:630 genetic disease ISO RGD:1353227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11259612|PMID:17054399|PMID:18559922|PMID:18682503|PMID:18826963|PMID:20022991|PMID:20696889|PMID:21858136|PMID:22466334|PMID:22927827|PMID:23386640|PMID:23533228|PMID:23596439|PMID:23643382|PMID:24031091|PMID:24276467|PMID:25741868|PMID:28492532|PMID:33227799|PMID:4276467|PMID:8954047 8921758 Prokr2 prokineticin receptor 2 gene DOID:670 amphetamine abuse ISO RGD:1353227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20576534 8921758 Prokr2 prokineticin receptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8921769 Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:13580 cholestasis ISO RGD:737476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8921769 Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8921769 Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:630 genetic disease ISO RGD:737476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921769 Dnajb9 DnaJ heat shock protein family (Hsp40) member B9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8921784 Ndrg4 NDRG family member 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8921784 Ndrg4 NDRG family member 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8921784 Ndrg4 NDRG family member 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8921784 Ndrg4 NDRG family member 4 gene DOID:224 transient cerebral ischemia ISO RGD:1332043 D RGD:9068941 20200609 RGD PMID:21636852|REF_RGD_ID:7247728 8921784 Ndrg4 NDRG family member 4 gene DOID:3068 glioblastoma ISO RGD:1353588 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:22489821|REF_RGD_ID:7247726 8921784 Ndrg4 NDRG family member 4 gene DOID:3070 high grade glioma disease_progression ISO RGD:1353588 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:22399192|REF_RGD_ID:7247727 8921784 Ndrg4 NDRG family member 4 gene DOID:630 genetic disease ISO RGD:1353588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921784 Ndrg4 NDRG family member 4 gene DOID:687 hepatoblastoma ISO RGD:1353588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 8921820 Odad2 outer dynein arm docking complex subunit 2 gene DOID:0050144 Kartagener syndrome ISO RGD:1315828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23806086|PMID:23849778|PMID:24088041|PMID:28492532 8921820 Odad2 outer dynein arm docking complex subunit 2 gene DOID:0050545 visceral heterotaxy ISO RGD:1315829 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8921820 Odad2 outer dynein arm docking complex subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1315828 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8921820 Odad2 outer dynein arm docking complex subunit 2 gene DOID:0110609 primary ciliary dyskinesia 23 ISO RGD:1315828 D RGD:7240710 20180130 OMIM 8921820 Odad2 outer dynein arm docking complex subunit 2 gene DOID:0110609 primary ciliary dyskinesia 23 ISO RGD:1315828 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 23 PMID:16199547|PMID:17576681|PMID:23806086|PMID:23849778|PMID:24033266|PMID:24088041|PMID:24203976|PMID:25741868|PMID:26139845|PMID:27637300|PMID:28492532|PMID:31213628|PMID:31650533|PMID:33577779|PMID:9536098 8921820 Odad2 outer dynein arm docking complex subunit 2 gene DOID:12336 male infertility ISO RGD:1315828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 8921820 Odad2 outer dynein arm docking complex subunit 2 gene DOID:630 genetic disease ISO RGD:1315828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8921820 Odad2 outer dynein arm docking complex subunit 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315828 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:23806086|PMID:23849778|PMID:24033266|PMID:24088041|PMID:25741868|PMID:27637300|PMID:28492532|PMID:33577779 8921852 Col4a6 collagen type IV alpha 6 chain gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1343037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8921852 Col4a6 collagen type IV alpha 6 chain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8921852 Col4a6 collagen type IV alpha 6 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1343037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome 8921852 Col4a6 collagen type IV alpha 6 chain gene DOID:0111740 X-linked deafness 6 ISO RGD:1343037 D RGD:7240710 20180130 OMIM 8921852 Col4a6 collagen type IV alpha 6 chain gene DOID:0111740 X-linked deafness 6 ISO RGD:1343037 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: COL4A6-related condition | ClinVar Annotator: match by term: Deafness, X-linked 6 PMID:23714752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33840813 8921852 Col4a6 collagen type IV alpha 6 chain gene DOID:12849 autistic disorder ISO RGD:1343037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8921852 Col4a6 collagen type IV alpha 6 chain gene DOID:630 genetic disease ISO RGD:1343037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8921852 Col4a6 collagen type IV alpha 6 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1343037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8921852 Col4a6 collagen type IV alpha 6 chain gene DOID:9005549 Epithelioid Leiomyoma ISO RGD:1343037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17069596 8921901 Aco1 aconitase 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:2019 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:23805238|REF_RGD_ID:11541090 8921901 Aco1 aconitase 1 gene DOID:1724 duodenal ulcer ISO RGD:2019 D RGD:9068941 20200609 RGD protein:increased activity:duodenal mucosa PMID:19342511|REF_RGD_ID:11541091 8921901 Aco1 aconitase 1 gene DOID:630 genetic disease ISO RGD:10067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921901 Aco1 aconitase 1 gene DOID:8398 osteoarthritis ISO RGD:10067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8921901 Aco1 aconitase 1 gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:2019 D RGD:9068941 20200609 RGD PMID:20176611|REF_RGD_ID:11541086 8921901 Aco1 aconitase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:10067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 8921901 Aco1 aconitase 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2019 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:22639386|REF_RGD_ID:11541085 8921926 Lrrc69 leucine rich repeat containing 69 gene DOID:630 genetic disease ISO RGD:2293909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921944 Snapc3 small nuclear RNA activating complex polypeptide 3 gene DOID:630 genetic disease ISO RGD:1313043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921963 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:2301277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 8921963 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2301277 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8921963 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0110462 autosomal recessive nonsyndromic deafness 101 ISO RGD:2301277 D RGD:7240710 20180130 OMIM 8921963 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:0110462 autosomal recessive nonsyndromic deafness 101 ISO RGD:2301277 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 101 PMID:24619944|PMID:25741868|PMID:28492532 8921963 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:630 genetic disease ISO RGD:2301277 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8921963 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2301277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8921963 Grxcr2 glutaredoxin and cysteine rich domain containing 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2301277 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8921970 Selenof selenoprotein F gene DOID:630 genetic disease ISO RGD:736154 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921979 Btf3l4 basic transcription factor 3 like 4 gene DOID:630 genetic disease ISO RGD:1605903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8921997 Dsg4 desmoglein 4 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1348036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 8921997 Dsg4 desmoglein 4 gene DOID:0110703 hypotrichosis 6 ISO RGD:1348036 D RGD:7240710 20180130 OMIM 8921997 Dsg4 desmoglein 4 gene DOID:0110703 hypotrichosis 6 ISO RGD:1348036 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hypotrichosis 6 PMID:12705872|PMID:15191570|PMID:16439973|PMID:16543896|PMID:16575393|PMID:17392831|PMID:25251037|PMID:25741868|PMID:26173648|PMID:28492532|PMID:29796690 8921997 Dsg4 desmoglein 4 gene DOID:1059 intellectual disability ISO RGD:1348036 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8921997 Dsg4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:1348036 D RGD:9068941 20200609 RGD DNA:deletion PMID:15191570|REF_RGD_ID:1599796 8921997 Dsg4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:735015 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:15081105|REF_RGD_ID:1302434 8921997 Dsg4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:735015 D RGD:9068941 20211112 RGD PMID:15606503|REF_RGD_ID:150521560 8921997 Dsg4 desmoglein 4 gene DOID:4535 hypotrichosis ISO RGD:735015 D RGD:9068941 20211112 RGD DNA:missense mutation:exon 8 (rat) PMID:15617564|REF_RGD_ID:150521562 8921997 Dsg4 desmoglein 4 gene DOID:630 genetic disease ISO RGD:1348036 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8921997 Dsg4 desmoglein 4 gene DOID:987 alopecia ISO RGD:735015 D RGD:9068941 20211112 RGD DNA:missense mutation:exon 8 (rat) PMID:15617564|REF_RGD_ID:150521562 8922016 Rsl1d1 ribosomal L1 domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1350657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8922016 Rsl1d1 ribosomal L1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1350657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922039 Gpc4 glypican 4 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:1347282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8922039 Gpc4 glypican 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8922039 Gpc4 glypican 4 gene DOID:0111842 Keipert syndrome ISO RGD:1347282 D RGD:7240710 20190626 OMIM 8922039 Gpc4 glypican 4 gene DOID:0111842 Keipert syndrome ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keipert syndrome PMID:25741868|PMID:30982611|PMID:4708024 8922039 Gpc4 glypican 4 gene DOID:12849 autistic disorder ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8922039 Gpc4 glypican 4 gene DOID:2154 nephroblastoma ISO RGD:1347282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8922039 Gpc4 glypican 4 gene DOID:630 genetic disease ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922039 Gpc4 glypican 4 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1347282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 8922039 Gpc4 glypican 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:1553698 D RGD:9068941 20200609 RGD PMID:24725413|REF_RGD_ID:13782363 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:733787 D RGD:9068941 20200609 RGD PMID:28578378|REF_RGD_ID:13782362 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:733787 D RGD:9068941 20200609 RGD DNA:SNP:3' UTR:rs735555 (human) PMID:19154537|REF_RGD_ID:13782364 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1553698 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:12098 trigeminal neuralgia ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:21161138|REF_RGD_ID:13782378 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:1459 hypothyroidism ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:22987596|REF_RGD_ID:13782376 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:1561 cognitive disorder ISO RGD:733787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17581637 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:1596 depressive disorder NOT ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:21682945|REF_RGD_ID:13782377 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:733787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:25301568|REF_RGD_ID:13782374 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:9002955 Nerve Degeneration ISO RGD:733787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17581637 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:629472 D RGD:9068941 20200609 RGD PMID:25665755|REF_RGD_ID:13782373 8922052 Cdk5r1 cyclin dependent kinase 5 regulatory subunit 1 gene DOID:936 brain disease ISO RGD:733787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15665076 8922059 Itga4 integrin subunit alpha 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1348031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532 8922059 Itga4 integrin subunit alpha 4 gene DOID:0050589 inflammatory bowel disease ISO RGD:1348031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067908 8922059 Itga4 integrin subunit alpha 4 gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:1348031 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes:intron:rs155100(human) PMID:19259978|REF_RGD_ID:13593533 8922059 Itga4 integrin subunit alpha 4 gene DOID:0110368 retinitis pigmentosa 26 ISO RGD:1348031 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:24938718|PMID:25741868|PMID:28492532|PMID:29555955|PMID:31736247 8922059 Itga4 integrin subunit alpha 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1348031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28041643|PMID:28492532 8922059 Itga4 integrin subunit alpha 4 gene DOID:10591 pre-eclampsia ISO RGD:1593249 D RGD:9068941 20200609 RGD protein:increased expression:blood, granulocyte (rat) PMID:10694336|REF_RGD_ID:9698441 8922059 Itga4 integrin subunit alpha 4 gene DOID:10952 nephritis treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:9773789|REF_RGD_ID:9698422 8922059 Itga4 integrin subunit alpha 4 gene DOID:12849 autistic disorder ISO RGD:1348031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348195 8922059 Itga4 integrin subunit alpha 4 gene DOID:1793 pancreatic cancer ISO RGD:1348031 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 8922059 Itga4 integrin subunit alpha 4 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:7679412|PMID:9032136|REF_RGD_ID:2308810|REF_RGD_ID:9698425 8922059 Itga4 integrin subunit alpha 4 gene DOID:552 pneumonia treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:8703473|REF_RGD_ID:9698424 8922059 Itga4 integrin subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1348031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8922059 Itga4 integrin subunit alpha 4 gene DOID:8501 fundus dystrophy ISO RGD:1348031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 8922059 Itga4 integrin subunit alpha 4 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19553613|REF_RGD_ID:9698417 8922059 Itga4 integrin subunit alpha 4 gene DOID:9000099 Experimental Colitis ISO RGD:1593249 D RGD:9068941 20200609 RGD protein:increased expression:colon (rat) PMID:12183646|REF_RGD_ID:729408 8922059 Itga4 integrin subunit alpha 4 gene DOID:9001039 Leukocytosis ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:12626659|REF_RGD_ID:9698418 8922059 Itga4 integrin subunit alpha 4 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1348031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21093051 8922059 Itga4 integrin subunit alpha 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:12969328|REF_RGD_ID:9698440 8922059 Itga4 integrin subunit alpha 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis susceptibility ISO RGD:1593249 D RGD:9068941 20200609 RGD rat bone marrow cells in a mouse model PMID:18722022|REF_RGD_ID:9698436 8922059 Itga4 integrin subunit alpha 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1593249 D RGD:9068941 20200609 RGD PMID:12626659|REF_RGD_ID:9698418 8922059 Itga4 integrin subunit alpha 4 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1558454 D RGD:9068941 20200609 RGD PMID:9721793|REF_RGD_ID:9698437 8922059 Itga4 integrin subunit alpha 4 gene DOID:9004484 Sepsis ISO RGD:1348031 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil PMID:19011162|REF_RGD_ID:13593535 8922059 Itga4 integrin subunit alpha 4 gene DOID:9007402 Gliosis ISO RGD:1348031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 8922059 Itga4 integrin subunit alpha 4 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1558454 D RGD:9068941 20200609 RGD PMID:7528925|REF_RGD_ID:13593534 8922139 Actr3b actin related protein 3B gene DOID:12849 autistic disorder ISO RGD:1603621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8922139 Actr3b actin related protein 3B gene DOID:630 genetic disease ISO RGD:1603621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922156 Atp7b ATPase copper transporting beta gene DOID:0050952 spastic ataxia ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10441329|PMID:10544227|PMID:16283883|PMID:17317524|PMID:17949296|PMID:23518715|PMID:25741868|PMID:27398169|PMID:28492532|PMID:7626145 8922156 Atp7b ATPase copper transporting beta gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8922156 Atp7b ATPase copper transporting beta gene DOID:0080567 congenital disorder of glycosylation Ip ISO RGD:731392 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:10441329|PMID:16283883|PMID:25741868|PMID:28492532|PMID:30676690 8922156 Atp7b ATPase copper transporting beta gene DOID:0111428 essential tremor 1 ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hand tremor PMID:25741868 8922156 Atp7b ATPase copper transporting beta gene DOID:1059 intellectual disability ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8922156 Atp7b ATPase copper transporting beta gene DOID:2237 hepatitis ISO RGD:2180 D RGD:9068941 20201211 RGD PMID:3392951|PMID:3429843|REF_RGD_ID:1302497|REF_RGD_ID:25823153 8922156 Atp7b ATPase copper transporting beta gene DOID:2237 hepatitis ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14574444|PMID:15135151 8922156 Atp7b ATPase copper transporting beta gene DOID:2697 renal adenoma ISO RGD:2180 D RGD:9068941 20201218 RGD PMID:11509115|REF_RGD_ID:1302456 8922156 Atp7b ATPase copper transporting beta gene DOID:305 carcinoma ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11802810|PMID:12216079 8922156 Atp7b ATPase copper transporting beta gene DOID:3459 breast carcinoma severity ISO RGD:731392 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:breast PMID:11802810|REF_RGD_ID:2292670 8922156 Atp7b ATPase copper transporting beta gene DOID:409 liver disease ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364284 8922156 Atp7b ATPase copper transporting beta gene DOID:5082 liver cirrhosis ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25134866 8922156 Atp7b ATPase copper transporting beta gene DOID:5212 congenital disorder of glycosylation ISO RGD:731392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 8922156 Atp7b ATPase copper transporting beta gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12509969 8922156 Atp7b ATPase copper transporting beta gene DOID:630 genetic disease ISO RGD:731392 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1000228|PMID:10051024|PMID:10406672|PMID:10441329|PMID:10447265|PMID:10453196|PMID:10502776|PMID:10502777|PMID:10544227|PMID:10721669|PMID:10790207|PMID:10942420|PMID:11021476|PMID:11093740|PMID:11175281|PMID:11216666|PMID:11243728|PMID:11405812|PMID:11472373|PMID:11479773|PMID:11690702|PMID:11857545|PMID:12544487|PMID:12557139|PMID:12812649|PMID:12885331|PMID:12955875|PMID:14962673|PMID:14966923|PMID:14986826|PMID:15024742|PMID:15202786|PMID:15205462|PMID:15337266|PMID:15523622|PMID:15723329|PMID:15845031|PMID:15952988|PMID:15967699|PMID:15994426|PMID:16088907|PMID:16133174|PMID:16175588|PMID:16199547|PMID:16207219|PMID:16233999|PMID:16283883|PMID:16472602|PMID:16545904|PMID:16603785|PMID:16649058|PMID:16696937|PMID:16791614|PMID:16922724|PMID:16939419|PMID:16998622|PMID:17154398|PMID:17160357|PMID:17264425|PMID:17272994|PMID:17300695|PMID:17317524|PMID:17433323|PMID:17576681|PMID:17587212|PMID:17634212|PMID:17680703|PMID:17717039|PMID:17823867|PMID:17897870|PMID:17919502|PMID:17949296|PMID:18034201|PMID:18203200|PMID:18311837|PMID:18371106|PMID:18373411|PMID:18414213|PMID:18483695|PMID:18652531|PMID:18692069|PMID:18855987|PMID:19033537|PMID:19062534|PMID:19118915|PMID:19306278|PMID:19371217|PMID:19419418|PMID:19783880|PMID:19937698|PMID:20045993|PMID:20301685|PMID:20333758|PMID:20437613|PMID:20453399|PMID:20465995|PMID:20485189|PMID:20491539|PMID:20517649|PMID:20931554|PMID:20958917|PMID:20967755|PMID:21034864|PMID:21219664|PMID:21350584|PMID:21398519|PMID:21454443|PMID:21610751|PMID:21645214|PMID:21682854|PMID:21794208|PMID:21796144|PMID:21832955|PMID:22106832|PMID:22221592|PMID:22240481|PMID:22286624|PMID:22308153|PMID:22484412|PMID:22677543|PMID:22692182|PMID:22720308|PMID:22730635|PMID:22735241|PMID:22774841|PMID:22820477|PMID:22898812|PMID:22940187|PMID:23158531|PMID:23159873|PMID:23219664|PMID:23235335|PMID:23333878|PMID:2333878|PMID:23389864|PMID:23430806|PMID:23430908|PMID:23518715|PMID:23525077|PMID:23551039|PMID:23556051|PMID:23567103|PMID:23774950|PMID:23843956|PMID:23962630|PMID:23982005|PMID:24010089|PMID:24023303|PMID:24033266|PMID:24094725|PMID:24146181|PMID:24253677|PMID:24517292|PMID:24661374|PMID:24706876|PMID:24878384|PMID:24897373|PMID:24909901|PMID:25086856|PMID:25089800|PMID:25130000|PMID:25333069|PMID:25390358|PMID:25497208|PMID:25525159|PMID:25617204|PMID:25637381|PMID:25678388|PMID:25704634|PMID:25741868|PMID:25825851|PMID:25982861|PMID:25988284|PMID:26004889|PMID:26032686|PMID:2610069|PMID:26206375|PMID:26253413|PMID:26269689|PMID:26275891|PMID:26286547|PMID:26483271|PMID:26580967|PMID:26764160|PMID:26799313|PMID:26819605|PMID:26829729|PMID:27022412|PMID:27398169|PMID:27528516|PMID:27706781|PMID:27935710|PMID:27982432|PMID:28119449|PMID:28212618|PMID:28271598|PMID:28492532|PMID:28515472|PMID:28554332|PMID:28564725|PMID:28602929|PMID:28717664|PMID:28776642|PMID:29063292|PMID:29181760|PMID:29431110|PMID:29473088|PMID:29674751|PMID:29790872|PMID:29907136|PMID:29930488|PMID:29961769|PMID:29979436|PMID:30026388|PMID:30097039|PMID:30120852|PMID:30212743|PMID:30232804|PMID:30254379|PMID:30275481|PMID:30366773|PMID:30384382|PMID:30556376|PMID:30558096|PMID:30609409|PMID:30655162|PMID:30702195|PMID:30723317|PMID:30842500|PMID:30884209|PMID:31010795|PMID:31059521|PMID:31169307|PMID:31408533|PMID:31449670|PMID:31474638|PMID:31589614|PMID:31598802|PMID:31620489|PMID:31637888|PMID:31664448|PMID:31708252|PMID:31738409|PMID:31743419|PMID:31751128|PMID:31783295|PMID:31804371|PMID:31980526|PMID:32043565|PMID:32118851|PMID:32154060|PMID:32248359|PMID:32270360|PMID:32284880|PMID:32532207|PMID:32685348|PMID:32770663|PMID:32778786|PMID:32794656|PMID:32911910|PMID:33098801|PMID:33100332|PMID:33159804|PMID:33223529|PMID:33258288|PMID:33640437|PMID:33668890|PMID:33719328|PMID:33763395|PMID:33869661|PMID:34400371|PMID:34426522|PMID:34470610|PMID:34620762|PMID:35041927|PMID:35220961|PMID:35245129|PMID:35470480|PMID:35637795|PMID:36096368|PMID:36573661|PMID:36632541|PMID:626829|PMID:7626145|PMID:8298641|PMID:8533760 8922156 Atp7b ATPase copper transporting beta gene DOID:630 genetic disease ISO RGD:731392 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:8782057|PMID:893844|PMID:8938442|PMID:9199563|PMID:9214248|PMID:9311736|PMID:9352458|PMID:9452121|PMID:9482578|PMID:9504786|PMID:9536098|PMID:9554743|PMID:9654149|PMID:9671269|PMID:9671279|PMID:9724794|PMID:9801873|PMID:9829905|PMID:9837819|PMID:9887381 8922156 Atp7b ATPase copper transporting beta gene DOID:684 hepatocellular carcinoma onset ISO RGD:2180 D RGD:9068941 20201211 RGD PMID:8291609|REF_RGD_ID:15036817 8922156 Atp7b ATPase copper transporting beta gene DOID:686 liver carcinoma ISO RGD:2180 D RGD:9068941 20201218 RGD PMID:11509115|REF_RGD_ID:1302456 8922156 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:7240710 20180130 OMIM 8922156 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hepatolenticular degeneration | ClinVar Annotator: match by term: Wilson disease PMID:26207595|PMID:26215059|PMID:26253413|PMID:26269689|PMID:26275891|PMID:26286547|PMID:26466587|PMID:26483271|PMID:26580967|PMID:26650869|PMID:26660341|PMID:26752957|PMID:26764160|PMID:26782526|PMID:2679931|PMID:26799313|PMID:26807378|PMID:26819605|PMID:26829729|PMID:27022412|PMID:27122662|PMID:27398169|PMID:27437191|PMID:27499926|PMID:27528516|PMID:27535533|PMID:27638368|PMID:27706781|PMID:27930511|PMID:27935710|PMID:27941192|PMID:27982432|PMID:27992490|PMID:28119449|PMID:28212618|PMID:28265897|PMID:28271598|PMID:28392828|PMID:28433102|PMID:28443131|PMID:28492532|PMID:28507923|PMID:28515472|PMID:28554332|PMID:28564725|PMID:28602929|PMID:28717664|PMID:28776642|PMID:29063292|PMID:29085216|PMID:29181760|PMID:29321352|PMID:29356957|PMID:29381936|PMID:29418065|PMID:29431110|PMID:29473088|PMID:29482223|PMID:29540233|PMID:29637721|PMID:29649982|PMID:29674751|PMID:29761093|PMID:29790872|PMID:29907136|PMID:29914392|PMID:29915382|PMID:29930488|PMID:29961769|PMID:29979436|PMID:30087448|PMID:30097039|PMID:30120852|PMID:30212743|PMID:30230192|PMID:30232804|PMID:30254379|PMID:30275481|PMID:30366773|PMID:30384382|PMID:30426382|PMID:30556376|PMID:30558096|PMID:30609409|PMID:30655162|PMID:30676690|PMID:30702195|PMID:30723317|PMID:30842500|PMID:30884209|PMID:30980273|PMID:31000363|PMID:31010795|PMID:31059521|PMID:31169307|PMID:31172689|PMID:31286540|PMID:31408533|PMID:31449670|PMID:31474638|PMID:31589614|PMID:31598802|PMID:31620489|PMID:31637888|PMID:31664448|PMID:31708252|PMID:31738409|PMID:31743419|PMID:31751128|PMID:31783295|PMID:31804371|PMID:31942415|PMID:31980526|PMID:32043565|PMID:32067425|PMID:32118851|PMID:32154060|PMID:32248359|PMID:32270360|PMID:32284880|PMID:32291276|PMID:32532207|PMID:32539308|PMID:32613181|PMID:32618023|PMID:32685348|PMID:32770663|PMID:32778786|PMID:32794656|PMID:32901917|PMID:32911910|PMID:33098801|PMID:33100332|PMID:33159804|PMID:33223529|PMID:33258288|PMID:33260258|PMID:33265091|PMID:33640437|PMID:33668890|PMID:33719328|PMID:33763395|PMID:33948933|PMID:34002136|PMID:34091542|PMID:34131283|PMID:34240825|PMID:34324271|PMID:34381801|PMID:34400371|PMID:34426522|PMID:34470610|PMID:34539730|PMID:34773664|PMID:35079019|PMID:35193651|PMID:35864215|PMID:7626145|PMID:7726170|PMID:7833924|PMID:8203200|PMID:8298639|PMID:8298640|PMID:8298641|PMID:8526905|PMID:8533760|PMID:8782057|PMID:8931691|PMID:893844|PMID:8938442|PMID:8980283|PMID:9199563|PMID:9214248|PMID:9222767|PMID:9311736|PMID:9352458|PMID:9407345|PMID:9452121|PMID:9482578|PMID:9504786|PMID:9536098|PMID:9554743|PMID:9654149|PMID:9671269|PMID:9724794|PMID:9801873|PMID:9829905|PMID:9837819|PMID:9887381 8922156 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:1000228|PMID:10051024|PMID:10070620|PMID:10194254|PMID:10394193|PMID:10406672|PMID:10441329|PMID:10447265|PMID:10453196|PMID:10502776|PMID:10502777|PMID:10544227|PMID:10557326|PMID:10721669|PMID:10790207|PMID:10942420|PMID:10980554|PMID:10981891|PMID:10994503|PMID:11021476|PMID:11043508|PMID:11060541|PMID:11093740|PMID:11175281|PMID:11180609|PMID:11216666|PMID:11243728|PMID:11405812|PMID:11472373|PMID:11479773|PMID:11690702|PMID:11721763|PMID:11775208|PMID:11857545|PMID:11954751|PMID:12032531|PMID:12202071|PMID:12325021|PMID:12376745|PMID:12515040|PMID:12544487|PMID:12557139|PMID:12756138|PMID:12812649|PMID:12885331|PMID:12955875|PMID:14616767|PMID:14639035|PMID:14748773|PMID:14761325|PMID:14962673|PMID:14966923|PMID:14974157|PMID:14986826|PMID:15024742|PMID:15147237|PMID:15202786|PMID:15205462|PMID:15205742|PMID:15337266|PMID:15523622|PMID:15524314|PMID:15557537|PMID:15571607|PMID:15723329|PMID:15811015|PMID:15845031|PMID:15952988|PMID:15967699|PMID:15994426|PMID:16088907|PMID:16133174|PMID:16175588|PMID:16199547|PMID:16207219|PMID:16233999|PMID:16234011|PMID:16283883|PMID:16416207|PMID:16423615|PMID:16472602|PMID:16495228|PMID:16510432|PMID:16545904|PMID:16567646|PMID:16603785|PMID:16644258|PMID:16649058|PMID:16684691|PMID:16696937|PMID:16791614|PMID:16868807|PMID:16922724|PMID:16939419|PMID:16998287|PMID:16998622|PMID:17154398|PMID:17160357|PMID:17264425|PMID:17272994|PMID:17300695|PMID:17317524|PMID:17325640|PMID:17410460|PMID:17433323|PMID:17576681|PMID:17587212|PMID:17629589|PMID:17634212|PMID:17680703|PMID:17717039|PMID:17718866|PMID:17823867|PMID:17876883|PMID:17897870|PMID:17919502|PMID:17949296|PMID:18034201|PMID:18156766|PMID:18203200|PMID:18286826|PMID:18311837|PMID:18371106|PMID:18373411|PMID:18403153|PMID:18414213|PMID:18416466|PMID:18424137|PMID:18483695|PMID:18652531|PMID:18692069|PMID:18698682|PMID:18728530|PMID:18760268|PMID:18841562|PMID:18841564|PMID:18855987|PMID:19033537|PMID:19062534|PMID:19118915|PMID:19172127|PMID:19306278|PMID:19371217|PMID:19381668|PMID:19419418|PMID:19484379|PMID:19514071|PMID:19540904|PMID:19596473|PMID:19700008|PMID:19725132|PMID:19783880|PMID:19937698|PMID:20045993|PMID:20082719|PMID:20301685|PMID:20333758|PMID:20421574|PMID:20437613|PMID:20453399|PMID:20465995|PMID:20485189|PMID:20491539|PMID:20517649|PMID:20931554|PMID:20958917|PMID:20967755|PMID:21034864|PMID:21189263|PMID:21219664|PMID:21334398|PMID:21350584|PMID:21398519|PMID:21454443|PMID:21610751|PMID:21645214|PMID:21682854|PMID:21707886|PMID:21794208|PMID:21796144|PMID:21832955|PMID:21901653|PMID:21925265|PMID:21956287|PMID:21982967|PMID:22019423|PMID:22046264|PMID:22075048|PMID:22087377|PMID:22093921|PMID:22106832|PMID:22170460|PMID:22221592|PMID:22240481|PMID:22286624|PMID:22308153|PMID:22484412|PMID:22494076|PMID:22677543|PMID:22687675|PMID:22692182|PMID:22720273|PMID:22720308|PMID:22730635|PMID:22735241|PMID:22745856|PMID:22763723|PMID:22774841|PMID:22820477|PMID:22898812|PMID:22940187|PMID:22955616|PMID:23158531|PMID:23159873|PMID:23219664|PMID:23235335|PMID:23275100|PMID:23333878|PMID:2333878|PMID:23382538|PMID:23389864|PMID:23430806|PMID:23430908|PMID:23486543|PMID:23518715|PMID:23525077|PMID:23551039|PMID:23556051|PMID:23567103|PMID:23607698|PMID:23774950|PMID:23789284|PMID:23843956|PMID:23885147|PMID:23962630|PMID:23982005|PMID:24003324|PMID:24010089|PMID:24023303|PMID:24033266|PMID:2409472|PMID:24094725|PMID:24118554|PMID:24119323|PMID:24146181|PMID:24253677|PMID:24475083|PMID:24476933|PMID:24517292|PMID:24555712|PMID:24661374|PMID:24668339|PMID:24706876|PMID:24718822|PMID:24720933|PMID:24794161|PMID:24798599|PMID:24878384|PMID:24897373|PMID:24909901|PMID:24932333|PMID:25014046|PMID:25046119|PMID:25086856|PMID:25089800|PMID:25130000|PMID:25199035|PMID:25327413|PMID:25333069|PMID:25376582|PMID:25390358|PMID:25465132|PMID:25497208|PMID:25516681|PMID:25525159|PMID:25617204|PMID:25637381|PMID:25678388|PMID:25704483|PMID:25704634|PMID:25741868|PMID:25825851|PMID:25982861|PMID:25988284|PMID:26004889|PMID:26031236 8922156 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease ISO RGD:731392 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:26032686|PMID:2610069|PMID:26206375|PMID:26207595|PMID:26215059|PMID:26253413|PMID:26269689|PMID:26275891|PMID:26286547|PMID:26466587|PMID:26483271|PMID:26580967|PMID:26650869|PMID:26660341|PMID:26752957|PMID:26764160|PMID:2677543|PMID:26782526|PMID:2679931|PMID:26799313|PMID:26807378|PMID:26819605|PMID:26829729|PMID:26833332|PMID:27022412|PMID:27122662|PMID:27398169|PMID:27437191|PMID:27499926|PMID:27528516|PMID:27535533|PMID:27706781|PMID:27930511|PMID:27935710|PMID:27941192|PMID:27982432|PMID:27992490|PMID:28119449|PMID:28212618|PMID:28265897|PMID:28271598|PMID:28392828|PMID:28433102|PMID:28443131|PMID:28492532|PMID:28507923|PMID:28515472|PMID:28554332|PMID:28564725|PMID:28602929|PMID:28717664|PMID:28776642|PMID:29063292|PMID:29085216|PMID:29181760|PMID:29321352|PMID:29356957|PMID:29381936|PMID:29418065|PMID:29431110|PMID:29473088|PMID:29482223|PMID:29540233|PMID:29637721|PMID:29649982|PMID:29674751|PMID:29761093|PMID:29790872|PMID:29907136|PMID:29914392|PMID:29915382|PMID:29930488|PMID:29961769|PMID:29979436|PMID:30026388|PMID:30087448|PMID:30097039|PMID:30120852|PMID:30212743|PMID:30230192|PMID:30232804|PMID:30254379|PMID:30275481|PMID:30366773|PMID:30384382|PMID:30426382|PMID:30556376|PMID:30558096|PMID:30609409|PMID:30655162|PMID:30676690|PMID:30702195|PMID:30723317|PMID:30842500|PMID:30884209|PMID:30980273|PMID:31000363|PMID:31010795|PMID:31059521|PMID:31169307|PMID:31172689|PMID:31286540|PMID:31408533|PMID:31449670|PMID:31474638|PMID:31589614|PMID:31598802|PMID:31620489|PMID:31637888|PMID:31664448|PMID:31708252|PMID:31738409|PMID:31743419|PMID:31746411|PMID:31751128|PMID:31783295|PMID:31804371|PMID:31942415|PMID:31980526|PMID:32043565|PMID:32067425|PMID:32118851|PMID:32154060|PMID:32248359|PMID:32270360|PMID:32281751|PMID:32284880|PMID:32322813|PMID:32351182|PMID:32532207|PMID:32539308|PMID:32613181|PMID:32618023|PMID:32685348|PMID:32770663|PMID:32778786|PMID:32794656|PMID:32901917|PMID:32911910|PMID:33098801|PMID:33100332|PMID:33159804|PMID:33223529|PMID:33258288|PMID:33260258|PMID:33265091|PMID:33573009|PMID:33640437|PMID:33668890|PMID:33719328|PMID:33763395|PMID:33869661|PMID:33948933|PMID:34002136|PMID:34091542|PMID:34131283|PMID:34240825|PMID:34324271|PMID:34381801|PMID:34395002|PMID:34400371|PMID:34404389|PMID:34426522|PMID:34470610|PMID:34539730|PMID:34620762|PMID:34621001|PMID:34773664|PMID:34786177|PMID:35041927|PMID:35079019|PMID:35193651|PMID:35220961|PMID:35222532|PMID:35245129|PMID:35271763|PMID:35342245|PMID:35357466|PMID:35385937|PMID:35388883|PMID:35446965|PMID:35470480|PMID:35535059|PMID:35538921|PMID:35637795|PMID:35782615|PMID:35864215|PMID:36096368|PMID:36112267|PMID:36253962|PMID:36343861|PMID:36573661|PMID:36632541|PMID:36777461|PMID:37046505|PMID:626829|PMID:671269|PMID:7626145|PMID:7726170|PMID:7833924|PMID:8203200|PMID:8298639|PMID:8298640|PMID:8298641|PMID:8526905|PMID:8533760|PMID:8782057|PMID:8931691|PMID:893844|PMID:8938442|PMID:8980283|PMID:9199563|PMID:9214248|PMID:9222767|PMID:9311736|PMID:9352458|PMID:9407345|PMID:9452121|PMID:9482578|PMID:9504786|PMID:9536098|PMID:9554743|PMID:9654149|PMID:9671269|PMID:9671279|PMID:9724794|PMID:9801873|PMID:9829905|PMID:9837819|PMID:9887381 8922156 Atp7b ATPase copper transporting beta gene DOID:893 Wilson disease treatment ISO RGD:731392 D RGD:9068941 20200609 RGD PMID:15511628|PMID:16803697|REF_RGD_ID:1554300|REF_RGD_ID:25671604 8922156 Atp7b ATPase copper transporting beta gene DOID:9000918 Disease Progression ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12216079|PMID:12509969|PMID:19296535 8922156 Atp7b ATPase copper transporting beta gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 8922156 Atp7b ATPase copper transporting beta gene DOID:9001720 Anhaptoglobinemia ISO RGD:731392 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Anhaptoglobinemia PMID:25741868 8922156 Atp7b ATPase copper transporting beta gene DOID:9001793 Generalized Epilepsy ISO RGD:731392 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:10447265|PMID:10790207|PMID:11243728|PMID:12885331|PMID:15811015|PMID:16207219|PMID:16684691|PMID:16791614|PMID:18414213|PMID:20517649|PMID:21610751|PMID:22484412|PMID:22677543|PMID:22692182|PMID:23518715|PMID:23551039|PMID:23789284|PMID:24517292|PMID:25390358|PMID:25741868|PMID:25825851|PMID:26764160|PMID:2679931|PMID:26799313|PMID:28492532|PMID:30097039|PMID:30232804|PMID:32043565|PMID:32118851|PMID:32154060|PMID:32248359|PMID:33640437|PMID:34620762|PMID:36573661|PMID:9671269 8922156 Atp7b ATPase copper transporting beta gene DOID:9002265 Kidney Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11509115 8922156 Atp7b ATPase copper transporting beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25320179 8922156 Atp7b ATPase copper transporting beta gene DOID:9002762 Ovarian Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12216079 8922156 Atp7b ATPase copper transporting beta gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:731392 D RGD:9068941 20200609 RGD PMID:12216079|REF_RGD_ID:2298865 8922156 Atp7b ATPase copper transporting beta gene DOID:9003370 Dyslipidemias ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303181 8922156 Atp7b ATPase copper transporting beta gene DOID:9004265 Endometrioid Carcinomas disease_progression ISO RGD:731392 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:15790435|REF_RGD_ID:2298864 8922156 Atp7b ATPase copper transporting beta gene DOID:9004590 Acute Liver Failure ISO RGD:2180 D RGD:9068941 20201211 RGD PMID:8291609|REF_RGD_ID:15036817 8922156 Atp7b ATPase copper transporting beta gene DOID:9004590 Acute Liver Failure ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25134866 8922156 Atp7b ATPase copper transporting beta gene DOID:9005372 Inflammation ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22945834 8922156 Atp7b ATPase copper transporting beta gene DOID:9006205 Animal Disease Models ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11803042|PMID:15911138|PMID:21146535|PMID:21364284 8922156 Atp7b ATPase copper transporting beta gene DOID:9006435 Mental Retardation Wolff Type ISO RGD:731392 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Wolff Zimmermann syndrome PMID:10441329|PMID:16133174|PMID:16283883|PMID:17264425|PMID:21034864|PMID:21645214|PMID:23518715|PMID:23551039|PMID:24094725|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30426382|PMID:31059521|PMID:32351182|PMID:35342245|PMID:9887381 8922156 Atp7b ATPase copper transporting beta gene DOID:9007188 Liver Neoplasms ISO RGD:2180 D RGD:9068941 20201218 RGD PMID:11509115|REF_RGD_ID:1302456 8922156 Atp7b ATPase copper transporting beta gene DOID:9007188 Liver Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11509115 8922156 Atp7b ATPase copper transporting beta gene DOID:9007188 Liver Neoplasms onset ISO RGD:2180 D RGD:9068941 20210219 RGD compared to LEC/Tj; PMID:11509115|REF_RGD_ID:1302456 8922156 Atp7b ATPase copper transporting beta gene DOID:9007364 Mouth Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12509969 8922156 Atp7b ATPase copper transporting beta gene DOID:9008443 Colorectal Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19296535 8922156 Atp7b ATPase copper transporting beta gene DOID:9008939 Breast Neoplasms ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11802810 8922156 Atp7b ATPase copper transporting beta gene DOID:9452 steatotic liver disease ISO RGD:731392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303181 8922190 Gramd1c GRAM domain containing 1C gene DOID:630 genetic disease ISO RGD:1606791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922215 Zswim9 zinc finger SWIM-type containing 9 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0050589 inflammatory bowel disease ISO RGD:1317504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0080690 RASopathy ISO RGD:1317504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0081120 Graves ophthalmopathy ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1468682, rs4729535 and rs17467232 (human) PMID:17608818|REF_RGD_ID:7829763 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0081267 graft-versus-host disease susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1123G>C (rs2488457) (human) PMID:23025987|REF_RGD_ID:11534005 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1317504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1317504 D RGD:9068941 20200609 RGD protein:increased expression:B cell (human) PMID:22569400|REF_RGD_ID:11535006 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:1040 chronic lymphocytic leukemia susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:p.R620W (rs2476601) (human) PMID:23287625|REF_RGD_ID:11533998 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12306 vitiligo ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp : cds: rs2476601 PMID:16015369|REF_RGD_ID:6484552 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12306 vitiligo ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:polymorphism: :1858C>T (p.R620W) (human) PMID:18426414|REF_RGD_ID:7829737 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12361 Graves' disease ISO RGD:1317504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21190368 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12361 Graves' disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: SNP: cds: C1858T PMID:15504986|REF_RGD_ID:6484538 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12361 Graves' disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:promoter:-1123G>C (human) PMID:18687223|REF_RGD_ID:7829738 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12361 Graves' disease no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1468682, rs4729535, rs17155601, rs17467232 (human) PMID:17608818|REF_RGD_ID:7829763 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12894 Sjogren's syndrome ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (human) PMID:16163373|REF_RGD_ID:11534998 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:12894 Sjogren's syndrome no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (human) PMID:15933742|REF_RGD_ID:11534999 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13241 Behcet's disease ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:17660222|REF_RGD_ID:6484733 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13241 Behcet's disease no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) PMID:22396730|REF_RGD_ID:7829745 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13375 temporal arteritis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R620W (rs2476601) (human) PMID:23946333|REF_RGD_ID:7829739 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13375 temporal arteritis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:polymorphism: :1858C>T (human) PMID:16078327|REF_RGD_ID:7829744 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:13774 Addison's disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:18301444|REF_RGD_ID:6484549 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:1459 hypothyroidism ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:22493691|REF_RGD_ID:6484670 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:1555 urticaria ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs1310182, rs2488457, rs3811021 (human) PMID:22722472|REF_RGD_ID:7829761 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:2377 multiple sclerosis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation: :R620W (rs2476601) (human) PMID:15934099|REF_RGD_ID:6484550 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:289 endometriosis ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:20070289|REF_RGD_ID:6484710 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:2957 pulmonary tuberculosis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs:cds:788G>A, 1858C>T (human) PMID:19563523|REF_RGD_ID:6484723 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:3393 coronary artery disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:21846984|REF_RGD_ID:6484553 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:417 autoimmune disease ISO RGD:1317504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21341673 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:418 systemic scleroderma ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:21131644|REF_RGD_ID:6484551 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:418 systemic scleroderma no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R620W (rs2476601) (human) PMID:16464986|REF_RGD_ID:7829741 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:437 myasthenia gravis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: 1858T PMID:19693092|REF_RGD_ID:6484722 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:630 genetic disease ISO RGD:1317504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp : cds : rs2476601 PMID:15934099|REF_RGD_ID:6484550 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:7148 rheumatoid arthritis ISO RGD:1317504 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis PMID:15004560|PMID:15208781|PMID:15273934|PMID:15580548|PMID:15719322|PMID:15744042|PMID:16273109|PMID:16339849|PMID:16470599|PMID:17170052|PMID:17436241|PMID:17554300|PMID:17878369|PMID:18301444|PMID:18978792|PMID:19265110|PMID:19430480|PMID:19898480|PMID:21841778|PMID:25741868|PMID:28492532 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNP::1858C>T (human) PMID:21467606|REF_RGD_ID:7829746 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1317504 D RGD:7240710 20190329 OMIM 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:7188 autoimmune thyroiditis ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:22374238|REF_RGD_ID:6484667 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8778 Crohn's disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs2476601 (human) PMID:18587394|REF_RGD_ID:6484668 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8893 psoriasis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:1858C>T (p.R620W) (rs2476601) (human) PMID:20039785|REF_RGD_ID:7829765 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8893 psoriasis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R620W (rs2476601) (human) PMID:18341666|REF_RGD_ID:7829762 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8893 psoriasis onset ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr: (rs1217414, rs3789604) (human) PMID:18341666|REF_RGD_ID:7829762 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8893 psoriasis susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:SNP:3' utr: (rs3789604) (human) PMID:18923449|REF_RGD_ID:7829764 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: C1858T PMID:21597364|REF_RGD_ID:6484673 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:8924 autoimmune thrombocytopenic purpura no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (rs2476601) (human) PMID:27309885|REF_RGD_ID:11535019 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9002457 Experimental Arthritis ISO RGD:1307992 D RGD:9068941 20200609 RGD protein:increased expression:metatarsophalangeal joint, mononuclear cell (rat) PMID:24998229|REF_RGD_ID:11532752 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (rs2476601) (human) PMID:22880107|REF_RGD_ID:11533997 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9003997 Familial Idiopathic Inflammatory Myopathy susceptibility ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:p.R620W (rs2476601) (human) PMID:18821667|REF_RGD_ID:11535001 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9007355 Hashimoto Disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:15719322|REF_RGD_ID:6484548 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9008 psoriatic arthritis ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: rs2476601 PMID:21410964|REF_RGD_ID:6484592 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9008 psoriatic arthritis no_association ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation: :R620W (rs2476601) (human) PMID:15934099|REF_RGD_ID:6484550 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9074 systemic lupus erythematosus ISO RGD:1317504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:15004560|PMID:15208781|PMID:15273934|PMID:15580548|PMID:15719322|PMID:15744042|PMID:16273109|PMID:16339849|PMID:16470599|PMID:17170052|PMID:17436241|PMID:17554300|PMID:17878369|PMID:18301444|PMID:18978792|PMID:19265110|PMID:19430480|PMID:19898480|PMID:21841778|PMID:28492532 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1317504 D RGD:7240710 20230505 OMIM 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9351 diabetes mellitus ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA: snp: cds: C1858T PMID:18764813|REF_RGD_ID:6484729 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1317504 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:21190368|PMID:30224649 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1317504 D RGD:9068941 20230506 RGD DNA: snp: cds: C1858T PMID:15004560|REF_RGD_ID:6484524 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:1317504 D RGD:9068941 20200609 RGD PMID:21873553|REF_RGD_ID:6484692 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1317504 D RGD:7240710 20230505 OMIM 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:9849 Meniere's disease ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R620W (c.1858C>T) (rs2476601) (human) PMID:19780033|REF_RGD_ID:7829747 8922241 Ptpn22 protein tyrosine phosphatase non-receptor type 22 gene DOID:986 alopecia areata severity ISO RGD:1317504 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1858C>T (human) PMID:16829308|REF_RGD_ID:6484734 8922241 Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) gene DOID:417 autoimmune disease ISO RGD:1552858 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R619W (mouse) PMID:23619366|REF_RGD_ID:7829736 8922269 Cimip2c ciliary microtubule inner protein 2C gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:2298820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8922277 Noxred1 NADP dependent oxidoreductase domain containing 1 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1348173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 8922277 Noxred1 NADP dependent oxidoreductase domain containing 1 gene DOID:630 genetic disease ISO RGD:1348173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922294 Tff2 trefoil factor 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:731368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8922294 Tff2 trefoil factor 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:731368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8922294 Tff2 trefoil factor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:731368 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16467092|REF_RGD_ID:2291999 8922294 Tff2 trefoil factor 2 gene DOID:630 genetic disease ISO RGD:731368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922294 Tff2 trefoil factor 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:731368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8922294 Tff2 trefoil factor 2 gene DOID:9004610 Acute Lung Injury ISO RGD:731368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19880587 8922294 Tff2 trefoil factor 2 gene DOID:9006535 Hookworm Infections ISO RGD:731369 D RGD:9068941 20201015 RGD PMID:22329990|REF_RGD_ID:39938827 8922294 Tff2 trefoil factor 2 gene DOID:9008114 Helicobacter Infections ISO RGD:731368 D RGD:9068941 20200609 RGD protein:increased expression:stomach epithelium PMID:15280409|REF_RGD_ID:7364760 8922294 Tff2 trefoil factor 2 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:731369 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 8922294 Tff2 trefoil factor 2 gene DOID:9263 homocystinuria ISO RGD:731368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8922294 Tff2 trefoil factor 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:731368 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8922317 Bmp10 bone morphogenetic protein 10 gene DOID:630 genetic disease ISO RGD:1353352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922317 Bmp10 bone morphogenetic protein 10 gene DOID:6419 tetralogy of Fallot ISO RGD:1558624 D RGD:9068941 20220825 MouseDO OMIM:187500 8922317 Bmp10 bone morphogenetic protein 10 gene DOID:9000784 Fibrosis ISO RGD:1353352 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31712309 8922317 Bmp10 bone morphogenetic protein 10 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1562986 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart left ventricle PMID:17921333|REF_RGD_ID:2302083 8922317 Bmp10 bone morphogenetic protein 10 gene DOID:9651 systolic heart failure ISO RGD:1353352 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31712309 8922323 Dhrs13 dehydrogenase/reductase 13 gene DOID:630 genetic disease ISO RGD:1603266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922352 Tie1 tyrosine kinase with immunoglobulin like and EGF like domains 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8922352 Tie1 tyrosine kinase with immunoglobulin like and EGF like domains 1 gene DOID:630 genetic disease ISO RGD:1346429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922352 Tie1 tyrosine kinase with immunoglobulin like and EGF like domains 1 gene DOID:9004103 Lymphatic Malformation 11 ISO RGD:1346429 D RGD:7240710 20210707 OMIM 8922352 Tie1 tyrosine kinase with immunoglobulin like and EGF like domains 1 gene DOID:9004103 Lymphatic Malformation 11 ISO RGD:1346429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 11 PMID:32947856 8922393 Neurl3 neuralized E3 ubiquitin protein ligase 3 gene DOID:5419 schizophrenia ISO RGD:1605013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8922399 LOC102027038 keratin-associated protein 16-1 gene DOID:630 genetic disease ISO RGD:1602313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922412 Gnb3 G protein subunit beta 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8922412 Gnb3 G protein subunit beta 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8922412 Gnb3 G protein subunit beta 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8922412 Gnb3 G protein subunit beta 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8922412 Gnb3 G protein subunit beta 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8922412 Gnb3 G protein subunit beta 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1346162 D RGD:7240710 20240313 OMIM 8922412 Gnb3 G protein subunit beta 3 gene DOID:0110866 congenital stationary night blindness 1H ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1H PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:27063057|PMID:28492532|PMID:9425898 8922412 Gnb3 G protein subunit beta 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8922412 Gnb3 G protein subunit beta 3 gene DOID:10763 hypertension ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15961981|PMID:16141801 8922412 Gnb3 G protein subunit beta 3 gene DOID:10763 hypertension no_association ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:polymorphism: :multiple (human) PMID:16908025|REF_RGD_ID:2313206 8922412 Gnb3 G protein subunit beta 3 gene DOID:10763 hypertension susceptibility ISO RGD:1346162 D RGD:9068941 20200806 RGD DNA:SNP:cds: 825C>T (human) PMID:11230982|REF_RGD_ID:1580408 8922412 Gnb3 G protein subunit beta 3 gene DOID:10763 hypertension susceptibility ISO RGD:1346162 D RGD:9068941 20200806 RGD DNA:SNP:cds:825C>T (human) PMID:10526907|REF_RGD_ID:1580410 8922412 Gnb3 G protein subunit beta 3 gene DOID:10825 essential hypertension ISO RGD:1346162 D RGD:7240710 20240313 OMIM 8922412 Gnb3 G protein subunit beta 3 gene DOID:10825 essential hypertension ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension, essential, susceptibility to PMID:10477144|PMID:10523525|PMID:10770297|PMID:10770309|PMID:10770310|PMID:11322952|PMID:12668921|PMID:25741868|PMID:28492532|PMID:9425898 8922412 Gnb3 G protein subunit beta 3 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:1346162 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :825C>T (human) PMID:17161225|REF_RGD_ID:2313205 8922412 Gnb3 G protein subunit beta 3 gene DOID:1596 depressive disorder susceptibility ISO RGD:1346162 D RGD:9068941 20200806 RGD DNA:SNP:cds: 825C>T (human) PMID:12634518|REF_RGD_ID:1358639 8922412 Gnb3 G protein subunit beta 3 gene DOID:3393 coronary artery disease ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141801 8922412 Gnb3 G protein subunit beta 3 gene DOID:3407 carotid artery disease ISO RGD:1346162 D RGD:9068941 20200609 RGD PMID:12624279|REF_RGD_ID:1580411 8922412 Gnb3 G protein subunit beta 3 gene DOID:630 genetic disease ISO RGD:1346162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8922412 Gnb3 G protein subunit beta 3 gene DOID:9004657 Weight Gain ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141801 8922412 Gnb3 G protein subunit beta 3 gene DOID:9005950 Orthostatic Hypotension susceptibility ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:SNP: : 825C>T (human) PMID:11910300|REF_RGD_ID:1580406 8922412 Gnb3 G protein subunit beta 3 gene DOID:9007692 Insulin Resistance ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:polymorphism: :825C>T (human) PMID:12624279|REF_RGD_ID:1580411 8922412 Gnb3 G protein subunit beta 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8922412 Gnb3 G protein subunit beta 3 gene DOID:9351 diabetes mellitus no_association ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:polymorphism: :multiple (human) PMID:16908025|REF_RGD_ID:2313206 8922412 Gnb3 G protein subunit beta 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12511541 8922412 Gnb3 G protein subunit beta 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346162 D RGD:9068941 20200609 RGD DNA:polymorphism: :825C>T (human) PMID:18656447|REF_RGD_ID:2313204 8922412 Gnb3 G protein subunit beta 3 gene DOID:9970 obesity ISO RGD:1346162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15961981|PMID:16141801 8922430 Atp6v1h ATPase H+ transporting V1 subunit H gene DOID:630 genetic disease ISO RGD:1320995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922454 Hjurp Holliday junction recognition protein gene DOID:0060476 Perlman syndrome ISO RGD:2292108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8922454 Hjurp Holliday junction recognition protein gene DOID:0080600 COVID-19 ISO RGD:2292108 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8922454 Hjurp Holliday junction recognition protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:2292108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8922454 Hjurp Holliday junction recognition protein gene DOID:630 genetic disease ISO RGD:2292108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922454 Hjurp Holliday junction recognition protein gene DOID:684 hepatocellular carcinoma ISO RGD:2292108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8922467 Mfsd12 major facilitator superfamily domain containing 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8922489 Ccnt2 cyclin T2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8922489 Ccnt2 cyclin T2 gene DOID:630 genetic disease ISO RGD:1319417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922520 Rsph4a radial spoke head component 4A gene DOID:0050144 Kartagener syndrome ISO RGD:1348763 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:17576681|PMID:23798057|PMID:24824133|PMID:25741868|PMID:28492532|PMID:34513534|PMID:9536098 8922520 Rsph4a radial spoke head component 4A gene DOID:0060041 autism spectrum disorder ISO RGD:1348763 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8922520 Rsph4a radial spoke head component 4A gene DOID:0060163 body dysmorphic disorder ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8922520 Rsph4a radial spoke head component 4A gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1348763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8922520 Rsph4a radial spoke head component 4A gene DOID:0110602 primary ciliary dyskinesia 11 ISO RGD:1348763 D RGD:7240710 20180130 OMIM 8922520 Rsph4a radial spoke head component 4A gene DOID:0110602 primary ciliary dyskinesia 11 ISO RGD:1348763 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 11 | ClinVar Annotator: match by term: RSPH4A-related condition PMID:16199547|PMID:17576681|PMID:19200523|PMID:20301301|PMID:22448264|PMID:23798057|PMID:23993197|PMID:24033266|PMID:25741868|PMID:25789548|PMID:28492532|PMID:31130284|PMID:32253119|PMID:34513534|PMID:34768622|PMID:9536098 8922520 Rsph4a radial spoke head component 4A gene DOID:1059 intellectual disability ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8922520 Rsph4a radial spoke head component 4A gene DOID:10907 microcephaly ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8922520 Rsph4a radial spoke head component 4A gene DOID:1826 epilepsy ISO RGD:1348763 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8922520 Rsph4a radial spoke head component 4A gene DOID:630 genetic disease ISO RGD:1348763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8922520 Rsph4a radial spoke head component 4A gene DOID:9000495 Tremor ISO RGD:1348763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8922520 Rsph4a radial spoke head component 4A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348763 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19200523|PMID:20301301|PMID:22448264|PMID:23798057|PMID:23993197|PMID:24033266|PMID:25741868|PMID:25789548|PMID:27637300|PMID:27848944|PMID:28492532|PMID:31130284|PMID:32253119|PMID:34513534|PMID:34768622|PMID:9536098 8922549 Tpd52l3 TPD52 like 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1606756 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8922549 Tpd52l3 TPD52 like 3 gene DOID:630 genetic disease ISO RGD:1606756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922566 Kyat3 kynurenine aminotransferase 3 gene DOID:630 genetic disease ISO RGD:1606260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922599 Csrp1 cysteine and glycine rich protein 1 gene DOID:0080365 endometrial hyperplasia ISO RGD:737489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 8922599 Csrp1 cysteine and glycine rich protein 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:737489 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8922599 Csrp1 cysteine and glycine rich protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:737489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8922599 Csrp1 cysteine and glycine rich protein 1 gene DOID:630 genetic disease ISO RGD:737489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922599 Csrp1 cysteine and glycine rich protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8922599 Csrp1 cysteine and glycine rich protein 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8922599 Csrp1 cysteine and glycine rich protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8922614 Ocstamp osteoclast stimulatory transmembrane protein gene DOID:2234 focal epilepsy ISO RGD:1352743 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8922614 Ocstamp osteoclast stimulatory transmembrane protein gene DOID:630 genetic disease ISO RGD:1352743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922629 Ccdc12 coiled-coil domain containing 12 gene DOID:0111044 gray platelet syndrome ISO RGD:1343271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gray platelet syndrome 8922629 Ccdc12 coiled-coil domain containing 12 gene DOID:630 genetic disease ISO RGD:1343271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922629 Ccdc12 coiled-coil domain containing 12 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8922641 Trappc13 trafficking protein particle complex subunit 13 gene DOID:630 genetic disease ISO RGD:1605046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922641 Trappc13 trafficking protein particle complex subunit 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8922662 Cd82 CD82 molecule gene DOID:10283 prostate cancer disease_progression ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:12497033|REF_RGD_ID:2289404 8922662 Cd82 CD82 molecule gene DOID:1059 intellectual disability ISO RGD:1604068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8922662 Cd82 CD82 molecule gene DOID:10763 hypertension ISO RGD:69070 D RGD:9068941 20200609 RGD mRNA:increased expression:thymus PMID:10321446|REF_RGD_ID:2289422 8922662 Cd82 CD82 molecule gene DOID:11054 urinary bladder cancer ISO RGD:1604068 D RGD:9068941 20200609 RGD PMID:17290345|REF_RGD_ID:2289391 8922662 Cd82 CD82 molecule gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:14706010|REF_RGD_ID:2289401 8922662 Cd82 CD82 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:ovary PMID:12079303|REF_RGD_ID:2289405 8922662 Cd82 CD82 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:1617636 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:ovary PMID:12079303|REF_RGD_ID:2289405 8922662 Cd82 CD82 molecule gene DOID:2394 ovarian cancer disease_progression ISO RGD:69070 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:ovary PMID:12079303|REF_RGD_ID:2289405 8922662 Cd82 CD82 molecule gene DOID:2671 transitional cell carcinoma ISO RGD:1604068 D RGD:9068941 20200609 RGD PMID:17393117|REF_RGD_ID:2289390 8922662 Cd82 CD82 molecule gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1604068 D RGD:9068941 20200609 RGD PMID:12684410|REF_RGD_ID:2289403 8922662 Cd82 CD82 molecule gene DOID:3459 breast carcinoma ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:15958618|REF_RGD_ID:2289398 8922662 Cd82 CD82 molecule gene DOID:3744 cervical squamous cell carcinoma ISO RGD:1604068 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:15642213|REF_RGD_ID:2289399 8922662 Cd82 CD82 molecule gene DOID:630 genetic disease ISO RGD:1604068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922662 Cd82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20075392 8922662 Cd82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:9068941 20200609 RGD associated with Carcinoma, Infiltrating Duct;mRNA:decreased expression:brain PMID:15592684|REF_RGD_ID:2289400 8922662 Cd82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;DNA:loss of heterozygosity PMID:9254900|REF_RGD_ID:2289425 8922662 Cd82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604068 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:decreased expression:bone PMID:12806379|REF_RGD_ID:2289402 8922662 Cd82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:69070 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;mRNA:decreased expression PMID:11275982|REF_RGD_ID:2289407 8922662 Cd82 CD82 molecule gene DOID:9000965 Neoplasm Metastasis ISO RGD:69070 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:decreased expression PMID:9831222|REF_RGD_ID:68869 8922662 Cd82 CD82 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1604068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20075392 8922662 Cd82 CD82 molecule gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604068 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20075392 8922662 Cd82 CD82 molecule gene DOID:9007402 Gliosis ISO RGD:69070 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:15277499|REF_RGD_ID:2289406 8922679 Ppp1r3g protein phosphatase 1 regulatory subunit 3G gene DOID:630 genetic disease ISO RGD:1346810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922689 Tmem169 transmembrane protein 169 gene DOID:630 genetic disease ISO RGD:1602990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922689 Tmem169 transmembrane protein 169 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8922714 Ankle1 ankyrin repeat and LEM domain containing 1 gene DOID:0080600 COVID-19 ISO RGD:1605878 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8922714 Ankle1 ankyrin repeat and LEM domain containing 1 gene DOID:630 genetic disease ISO RGD:1605878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922723 Wipf3 WAS/WASL interacting protein family member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8922723 Wipf3 WAS/WASL interacting protein family member 3 gene DOID:630 genetic disease ISO RGD:1605143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922735 Gbx2 gastrulation brain homeobox 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1348762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8922735 Gbx2 gastrulation brain homeobox 2 gene DOID:630 genetic disease ISO RGD:1348762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922735 Gbx2 gastrulation brain homeobox 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1348762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8922751 Fuom fucose mutarotase gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1322512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8922751 Fuom fucose mutarotase gene DOID:630 genetic disease ISO RGD:1322512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922769 Psmd3 proteasome 26S subunit, non-ATPase 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1322945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8922769 Psmd3 proteasome 26S subunit, non-ATPase 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1322945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8922769 Psmd3 proteasome 26S subunit, non-ATPase 3 gene DOID:630 genetic disease ISO RGD:1322945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922790 Stil STIL centriolar assembly protein gene DOID:0070278 primary autosomal recessive microcephaly 7 ISO RGD:1312720 D RGD:7240710 20180130 OMIM 8922790 Stil STIL centriolar assembly protein gene DOID:0070278 primary autosomal recessive microcephaly 7 ISO RGD:1312720 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive PMID:18414213|PMID:19215732|PMID:20301772|PMID:22989186|PMID:23772360|PMID:24986681|PMID:25218063|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26548919|PMID:26633542|PMID:28492532|PMID:33132204 8922790 Stil STIL centriolar assembly protein gene DOID:0080600 COVID-19 ISO RGD:1312720 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8922790 Stil STIL centriolar assembly protein gene DOID:1059 intellectual disability ISO RGD:1312720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8922790 Stil STIL centriolar assembly protein gene DOID:10907 microcephaly ISO RGD:1312720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive 8922790 Stil STIL centriolar assembly protein gene DOID:11367 congenital aphakia ISO RGD:1312720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:28492532 8922790 Stil STIL centriolar assembly protein gene DOID:2661 myoepithelioma ISO RGD:1312720 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8922790 Stil STIL centriolar assembly protein gene DOID:630 genetic disease ISO RGD:1312720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23772360|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532 8922815 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8922815 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:12849 autistic disorder ISO RGD:732437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8922815 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:2377 multiple sclerosis ISO RGD:732437 D RGD:9068941 20200609 RGD DNA:repeat::(CA)11-16 (human) PMID:9561979|REF_RGD_ID:1358628 8922815 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:3312 bipolar disorder ISO RGD:732437 D RGD:9068941 20200609 RGD PMID:11840313|REF_RGD_ID:1358391 8922815 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:630 genetic disease ISO RGD:732437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27572814|PMID:29053855 8922815 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:9005494 X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features ISO RGD:732437 D RGD:7240710 20221130 OMIM 8922815 Gabra3 gamma-aminobutyric acid type A receptor subunit alpha3 gene DOID:9005494 X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features ISO RGD:732437 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features PMID:25741868|PMID:27572814|PMID:29053855 8922840 Zfr2 zinc finger RNA binding protein 2 gene DOID:13938 amenorrhea ISO RGD:1312353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8922840 Zfr2 zinc finger RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1312353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922840 Zfr2 zinc finger RNA binding protein 2 gene DOID:9970 obesity ISO RGD:1312353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 8922858 Cdc6 cell division cycle 6 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1319341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 8922858 Cdc6 cell division cycle 6 gene DOID:0080516 Meier-Gorlin syndrome 5 ISO RGD:1319341 D RGD:7240710 20190424 OMIM 8922858 Cdc6 cell division cycle 6 gene DOID:0080516 Meier-Gorlin syndrome 5 ISO RGD:1319341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 PMID:11477602|PMID:18414213|PMID:21358632|PMID:25741868|PMID:28492532 8922858 Cdc6 cell division cycle 6 gene DOID:0080600 COVID-19 ISO RGD:1319341 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8922858 Cdc6 cell division cycle 6 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1319341 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8922858 Cdc6 cell division cycle 6 gene DOID:10907 microcephaly ISO RGD:1319341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8922858 Cdc6 cell division cycle 6 gene DOID:11612 polycystic ovary syndrome ISO RGD:1319341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8922858 Cdc6 cell division cycle 6 gene DOID:630 genetic disease ISO RGD:1319341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8922858 Cdc6 cell division cycle 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1319341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8922882 Arhgap18 Rho GTPase activating protein 18 gene DOID:5419 schizophrenia ISO RGD:1312852 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:19065146|REF_RGD_ID:5686816 8922882 Arhgap18 Rho GTPase activating protein 18 gene DOID:630 genetic disease ISO RGD:1312852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922919 Slc38a5 solute carrier family 38 member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:730905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8922919 Slc38a5 solute carrier family 38 member 5 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8922919 Slc38a5 solute carrier family 38 member 5 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8922919 Slc38a5 solute carrier family 38 member 5 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8922919 Slc38a5 solute carrier family 38 member 5 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:730905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8922919 Slc38a5 solute carrier family 38 member 5 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:730905 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8922919 Slc38a5 solute carrier family 38 member 5 gene DOID:12849 autistic disorder ISO RGD:730905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8922919 Slc38a5 solute carrier family 38 member 5 gene DOID:630 genetic disease ISO RGD:730905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922919 Slc38a5 solute carrier family 38 member 5 gene DOID:9005930 Endotoxemia ISO RGD:620702 D RGD:9068941 20200609 RGD PMID:20036385|REF_RGD_ID:9999227 8922983 Cat catalase gene DOID:0002116 pterygium ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:conjunctiva PMID:18987486|REF_RGD_ID:9068921 8922983 Cat catalase gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26074427 8922983 Cat catalase gene DOID:0050700 cardiomyopathy ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11800590 8922983 Cat catalase gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 8922983 Cat catalase gene DOID:0050853 chronic venous insufficiency ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:23182154|REF_RGD_ID:9479068 8922983 Cat catalase gene DOID:0060071 pre-malignant neoplasm ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 8922983 Cat catalase gene DOID:0060180 colitis ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:21463646|REF_RGD_ID:5130869 8922983 Cat catalase gene DOID:0080199 colorectal carcinoma treatment ISO RGD:2279 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 8922983 Cat catalase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 8922983 Cat catalase gene DOID:0080600 COVID-19 ISO RGD:732740 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8922983 Cat catalase gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:21557843|REF_RGD_ID:7205663 8922983 Cat catalase gene DOID:0081120 Graves ophthalmopathy ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:20394549|REF_RGD_ID:9071200 8922983 Cat catalase gene DOID:0081120 Graves ophthalmopathy treatment ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:15158621|REF_RGD_ID:9086875 8922983 Cat catalase gene DOID:10003 sensorineural hearing loss ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:15109710|REF_RGD_ID:8547516 8922983 Cat catalase gene DOID:10247 pleurisy ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:19778612|REF_RGD_ID:5130749 8922983 Cat catalase gene DOID:10300 Raynaud disease treatment ISO RGD:732740 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:decreased activity:serum: PMID:17401513|REF_RGD_ID:9479162 8922983 Cat catalase gene DOID:10316 pneumoconiosis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:19273541|REF_RGD_ID:5130756 8922983 Cat catalase gene DOID:10584 retinitis pigmentosa ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:19293779|REF_RGD_ID:8158049 8922983 Cat catalase gene DOID:1059 intellectual disability ISO RGD:732740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8922983 Cat catalase gene DOID:10754 otitis media treatment ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:cochlea,serum: PMID:22173336|REF_RGD_ID:7401215 8922983 Cat catalase gene DOID:10763 hypertension ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:16716903|REF_RGD_ID:1580833 8922983 Cat catalase gene DOID:10763 hypertension ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11479740|PMID:20667508|PMID:21593737|PMID:22228705 8922983 Cat catalase gene DOID:10808 gastric ulcer ISO RGD:2279 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:17895592|REF_RGD_ID:5130860 8922983 Cat catalase gene DOID:10808 gastric ulcer ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1887894 8922983 Cat catalase gene DOID:10825 essential hypertension ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:15735318|REF_RGD_ID:1581147 8922983 Cat catalase gene DOID:11054 urinary bladder cancer ISO RGD:732740 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 8922983 Cat catalase gene DOID:11088 asphyxia neonatorum ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 8922983 Cat catalase gene DOID:11396 pulmonary edema ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15612528 8922983 Cat catalase gene DOID:11446 sciatic neuropathy ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:sciatic nerve, spinal cord, dorsal root ganglion: PMID:19675389|REF_RGD_ID:9479064 8922983 Cat catalase gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:19693467|REF_RGD_ID:5130750 8922983 Cat catalase gene DOID:1210 optic neuritis treatment ISO RGD:732740 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental; PMID:18055782|REF_RGD_ID:9068881 8922983 Cat catalase gene DOID:1214 tympanosclerosis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:14710000|REF_RGD_ID:9479056 8922983 Cat catalase gene DOID:12306 vitiligo ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:skin: PMID:19439879|REF_RGD_ID:9479169 8922983 Cat catalase gene DOID:12306 vitiligo no_association ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human) PMID:23868633|REF_RGD_ID:9479150 8922983 Cat catalase gene DOID:12306 vitiligo susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human) PMID:20613769|REF_RGD_ID:9479149 8922983 Cat catalase gene DOID:12361 Graves' disease treatment ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:12919155|REF_RGD_ID:9068908 8922983 Cat catalase gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:22574884|REF_RGD_ID:8655661 8922983 Cat catalase gene DOID:12849 autistic disorder ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15205966 8922983 Cat catalase gene DOID:12858 Huntington's disease ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:19445928|REF_RGD_ID:5130752 8922983 Cat catalase gene DOID:1289 neurodegenerative disease treatment ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:26208597|REF_RGD_ID:11557995 8922983 Cat catalase gene DOID:12930 dilated cardiomyopathy ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:10652196|REF_RGD_ID:1581150 8922983 Cat catalase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:22443450|REF_RGD_ID:7205647 8922983 Cat catalase gene DOID:13207 proliferative diabetic retinopathy ISO RGD:732740 D RGD:9068941 20200609 RGD associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: PMID:24092995|REF_RGD_ID:9068931 8922983 Cat catalase gene DOID:13208 background diabetic retinopathy ISO RGD:732740 D RGD:9068941 20200609 RGD associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: PMID:24092995|REF_RGD_ID:9068931 8922983 Cat catalase gene DOID:13241 Behcet's disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 8922983 Cat catalase gene DOID:13241 Behcet's disease ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:17206395|REF_RGD_ID:9068907 8922983 Cat catalase gene DOID:13550 angle-closure glaucoma severity ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.4760C>T(rs1001179)(human) PMID:23961996|REF_RGD_ID:9068947 8922983 Cat catalase gene DOID:13580 cholestasis ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:21339256|REF_RGD_ID:5130873 8922983 Cat catalase gene DOID:13580 cholestasis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8922983 Cat catalase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23274713 8922983 Cat catalase gene DOID:14323 Marfan syndrome ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 8922983 Cat catalase gene DOID:14566 disease of cellular proliferation ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21854796 8922983 Cat catalase gene DOID:1459 hypothyroidism treatment ISO RGD:2279 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 8922983 Cat catalase gene DOID:1470 major depressive disorder ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 8922983 Cat catalase gene DOID:1596 depressive disorder ISO RGD:732740 D RGD:9068941 20210528 RGD associated with gastric adenocarcinoma; protein:decreased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 8922983 Cat catalase gene DOID:161 keratosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 8922983 Cat catalase gene DOID:161 keratosis susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-262C>T(rs1001179)(human) PMID:14580687|REF_RGD_ID:9479152 8922983 Cat catalase gene DOID:1679 cystitis ISO RGD:2279 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:26109091|REF_RGD_ID:11035303 8922983 Cat catalase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12499913|REF_RGD_ID:2317410 8922983 Cat catalase gene DOID:1824 status epilepticus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15245787|PMID:15752349|PMID:17383094|PMID:18096215 8922983 Cat catalase gene DOID:1909 melanoma ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:melanocyte: PMID:9758419|REF_RGD_ID:9479151 8922983 Cat catalase gene DOID:1909 melanoma ISO RGD:737448 D RGD:9068941 20200609 RGD protein:increased activity:multiple: PMID:15224238|REF_RGD_ID:9479742 8922983 Cat catalase gene DOID:2237 hepatitis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1937386 8922983 Cat catalase gene DOID:2316 brain ischemia ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:21213399|REF_RGD_ID:5130891 8922983 Cat catalase gene DOID:2316 brain ischemia ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17564305 8922983 Cat catalase gene DOID:2527 nephrosis ISO RGD:732740 D RGD:9068941 20200609 RGD mRNA: decreased expression: glomerulus PMID:20685819|REF_RGD_ID:7205671 8922983 Cat catalase gene DOID:2582 acatalasia ISO RGD:732740 D RGD:7240710 20180130 OMIM 8922983 Cat catalase gene DOID:2582 acatalasia ISO RGD:732740 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Acatalasemia, japanese type | ClinVar Annotator: match by term: Acatalasia PMID:11197178|PMID:1551654|PMID:2308162|PMID:25741868|PMID:28492532|PMID:8673475 8922983 Cat catalase gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) PMID:17693525|REF_RGD_ID:8547520 8922983 Cat catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18048809 8922983 Cat catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-21A>T (human) PMID:19373626|REF_RGD_ID:5130753 8922983 Cat catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-262C>T (human) PMID:18048809|REF_RGD_ID:5130856 8922983 Cat catalase gene DOID:2841 asthma ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:respiratory system fluid/secretion PMID:16622028|REF_RGD_ID:5130867 8922983 Cat catalase gene DOID:2841 asthma ISO RGD:737448 D RGD:9068941 20200609 RGD protein:decreased activity PMID:16622028|REF_RGD_ID:5130867 8922983 Cat catalase gene DOID:2841 asthma severity ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased expression:erythrocyte PMID:19475625|REF_RGD_ID:5130751 8922983 Cat catalase gene DOID:2876 laryngeal squamous cell carcinoma ISO RGD:732740 D RGD:9068941 20220610 RGD protein:increased activity:larynx PMID:8138195|REF_RGD_ID:152995273 8922983 Cat catalase gene DOID:2987 familial mediterranean fever disease_progression ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:22135646|REF_RGD_ID:9480233 8922983 Cat catalase gene DOID:3070 high grade glioma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21138464 8922983 Cat catalase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:20080081|REF_RGD_ID:4293707 8922983 Cat catalase gene DOID:3458 breast adenocarcinoma ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:25050522|REF_RGD_ID:9226881 8922983 Cat catalase gene DOID:3491 Turner syndrome ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 8922983 Cat catalase gene DOID:3602 toxic encephalopathy ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:serum: PMID:16938375|REF_RGD_ID:9068882 8922983 Cat catalase gene DOID:3717 gastric adenocarcinoma ISO RGD:732740 D RGD:9068941 20210507 RGD protein:decreased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 8922983 Cat catalase gene DOID:3770 pulmonary fibrosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19684199 8922983 Cat catalase gene DOID:3770 pulmonary fibrosis ISO RGD:732740 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:21190578|REF_RGD_ID:5130199 8922983 Cat catalase gene DOID:3908 lung non-small cell carcinoma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11731445 8922983 Cat catalase gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:20204550|REF_RGD_ID:9068926 8922983 Cat catalase gene DOID:4481 allergic rhinitis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29028686 8922983 Cat catalase gene DOID:4483 rhinitis treatment ISO RGD:737448 D RGD:9068941 20200609 RGD protein:increased activity:blood,nasal cavity mucosa: PMID:21541033|REF_RGD_ID:9479054 8922983 Cat catalase gene DOID:5199 ureteral obstruction ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:21305585|REF_RGD_ID:5130876 8922983 Cat catalase gene DOID:520 aortic disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 8922983 Cat catalase gene DOID:5679 retinal disease treatment ISO RGD:2279 D RGD:9068941 20200609 RGD associated with radiation injuries;protein:decreased activity:retina: PMID:17514533|REF_RGD_ID:9107626 8922983 Cat catalase gene DOID:5844 myocardial infarction ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:14575298|REF_RGD_ID:1581148 8922983 Cat catalase gene DOID:5844 myocardial infarction ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21600015 8922983 Cat catalase gene DOID:591 phobic disorder ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15309392 8922983 Cat catalase gene DOID:6000 congestive heart failure ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16105639 8922983 Cat catalase gene DOID:6000 congestive heart failure ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:10618301|REF_RGD_ID:1581151 8922983 Cat catalase gene DOID:630 genetic disease ISO RGD:732740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8922983 Cat catalase gene DOID:631 fibromyalgia ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:mononuclear cell: PMID:22532869|REF_RGD_ID:9479066 8922983 Cat catalase gene DOID:6543 acne ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:16489259|REF_RGD_ID:9479167 8922983 Cat catalase gene DOID:6543 acne ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:leukocyte: PMID:11349462|REF_RGD_ID:9479168 8922983 Cat catalase gene DOID:6543 acne severity ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:23174057|REF_RGD_ID:9479743 8922983 Cat catalase gene DOID:684 hepatocellular carcinoma ISO RGD:732740 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 8922983 Cat catalase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732740 D RGD:9068941 20200609 RGD associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-262T>C (human) PMID:21907168|REF_RGD_ID:27095879 8922983 Cat catalase gene DOID:7148 rheumatoid arthritis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 8922983 Cat catalase gene DOID:783 end stage renal disease ISO RGD:2279 D RGD:9068941 20200609 RGD protein: decreased expression :kidney PMID:20007347|REF_RGD_ID:6892947 8922983 Cat catalase gene DOID:783 end stage renal disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16518626|PMID:19420110 8922983 Cat catalase gene DOID:7998 hyperthyroidism ISO RGD:2279 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19914224|REF_RGD_ID:9068475 8922983 Cat catalase gene DOID:7998 hyperthyroidism ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23391542 8922983 Cat catalase gene DOID:8295 scabies treatment ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:17884035|REF_RGD_ID:9479747 8922983 Cat catalase gene DOID:83 cataract ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:15295623|REF_RGD_ID:9068905 8922983 Cat catalase gene DOID:83 cataract no_association ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:11408722|REF_RGD_ID:9068911 8922983 Cat catalase gene DOID:83 cataract treatment ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:lens: PMID:21635889|REF_RGD_ID:9068909 8922983 Cat catalase gene DOID:850 lung disease ISO RGD:2279 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:20534640|REF_RGD_ID:5130202 8922983 Cat catalase gene DOID:850 lung disease ISO RGD:2279 D RGD:9068941 20200609 RGD Lung Injury PMID:18793622|REF_RGD_ID:5130773 8922983 Cat catalase gene DOID:850 lung disease ISO RGD:2279 D RGD:9068941 20200609 RGD Lung Injury associated with Hyperoxia PMID:19895324|REF_RGD_ID:5130747 8922983 Cat catalase gene DOID:850 lung disease ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-330G>A (rs1001179) (human) PMID:19897513|REF_RGD_ID:5130745 8922983 Cat catalase gene DOID:850 lung disease ISO RGD:737448 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:19151196|REF_RGD_ID:5130768 8922983 Cat catalase gene DOID:850 lung disease ISO RGD:737448 D RGD:9068941 20200609 RGD Lung Injury;protein:decreased expression:lung PMID:21190578|REF_RGD_ID:5130199 8922983 Cat catalase gene DOID:874 bacterial pneumonia ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:lung, plasma PMID:19842849|REF_RGD_ID:5130748 8922983 Cat catalase gene DOID:8741 seborrheic dermatitis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:scalp: PMID:24001414|REF_RGD_ID:9479166 8922983 Cat catalase gene DOID:8893 psoriasis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12559600 8922983 Cat catalase gene DOID:8893 psoriasis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:serum: PMID:12602965|REF_RGD_ID:9479159 8922983 Cat catalase gene DOID:8893 psoriasis treatment ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:skin: PMID:12165738|REF_RGD_ID:9479170 8922983 Cat catalase gene DOID:8893 psoriasis treatment ISO RGD:737448 D RGD:9068941 20200609 RGD protein:decreased activity:liver: PMID:24018880|REF_RGD_ID:9479744 8922983 Cat catalase gene DOID:8947 diabetic retinopathy ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:21314438|REF_RGD_ID:5130875 8922983 Cat catalase gene DOID:9000197 Edema ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 8922983 Cat catalase gene DOID:9000307 Presbycusis ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:11678164|REF_RGD_ID:8655636 8922983 Cat catalase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:732740 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 8922983 Cat catalase gene DOID:9000564 Prehypertension susceptibility ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:23096233|REF_RGD_ID:9068479 8922983 Cat catalase gene DOID:9000918 Disease Progression ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10673208|PMID:11283936|PMID:16081686 8922983 Cat catalase gene DOID:9000965 Neoplasm Metastasis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12538496|PMID:22580338|PMID:23518002 8922983 Cat catalase gene DOID:9001472 Nasal Polyps ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:nasal concha: PMID:16287205|REF_RGD_ID:9479048 8922983 Cat catalase gene DOID:9001488 Human Influenza ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:19959187|REF_RGD_ID:5130744 8922983 Cat catalase gene DOID:9001488 Human Influenza ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:16804020|PMID:20653246|REF_RGD_ID:5130201|REF_RGD_ID:5130864 8922983 Cat catalase gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:retina: PMID:22509733|REF_RGD_ID:9068919 8922983 Cat catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:21525431|REF_RGD_ID:7205665 8922983 Cat catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:2279 D RGD:9068941 20200609 RGD associated with experimentally induced diabetes PMID:21686137|REF_RGD_ID:7205662 8922983 Cat catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:2279 D RGD:9068941 20200609 RGD rat gene in db/db mice PMID:20299359|REF_RGD_ID:7205676 8922983 Cat catalase gene DOID:9002165 Diabetic Nephropathies ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:22315314|REF_RGD_ID:7205651 8922983 Cat catalase gene DOID:9002211 Hyperalgesia treatment ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:23658840|PMID:23952340|REF_RGD_ID:9479063|REF_RGD_ID:9479069 8922983 Cat catalase gene DOID:9002315 Kidney Calculi ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 8922983 Cat catalase gene DOID:9002371 Cardiotoxicity ISO RGD:732740 D RGD:9068941 20221208 CTD CTD Direct Evidence: therapeutic PMID:35792220 8922983 Cat catalase gene DOID:9002457 Experimental Arthritis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 8922983 Cat catalase gene DOID:9002910 Hearing Loss, Noise-Induced severity ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:18212468|REF_RGD_ID:9190810 8922983 Cat catalase gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:: PMID:17567781|REF_RGD_ID:9068906 8922983 Cat catalase gene DOID:9002910 Hearing Loss, Noise-Induced treatment ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:23179931|REF_RGD_ID:9068923 8922983 Cat catalase gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:732740 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:18353692|REF_RGD_ID:9479160 8922983 Cat catalase gene DOID:9003106 Renoprival Hypertension ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:22733796|REF_RGD_ID:7206853 8922983 Cat catalase gene DOID:9003507 Premature Birth ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 8922983 Cat catalase gene DOID:9003566 Mesothelioma ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11283936 8922983 Cat catalase gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20493834|REF_RGD_ID:5130771 8922983 Cat catalase gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:21978706|REF_RGD_ID:9068474 8922983 Cat catalase gene DOID:9004009 Reperfusion Injury ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:19196076|PMID:20888583|REF_RGD_ID:5130200|REF_RGD_ID:5130760 8922983 Cat catalase gene DOID:9004009 Reperfusion Injury ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16682413|PMID:23743330|PMID:23875703|PMID:8215636 8922983 Cat catalase gene DOID:9004062 Hyperhidrosis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:16718367|REF_RGD_ID:9479745 8922983 Cat catalase gene DOID:9004203 Chromosome Breakage ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25172298 8922983 Cat catalase gene DOID:9004464 Skin Neoplasms disease_progression ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:1747937|REF_RGD_ID:9479155 8922983 Cat catalase gene DOID:9004464 Skin Neoplasms treatment ISO RGD:737448 D RGD:9068941 20200609 RGD PMID:21517247|REF_RGD_ID:9479189 8922983 Cat catalase gene DOID:9004484 Sepsis severity ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:15836852|REF_RGD_ID:9068893 8922983 Cat catalase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21749277|PMID:22580338 8922983 Cat catalase gene DOID:9004610 Acute Lung Injury ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15612528 8922983 Cat catalase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:19298531|REF_RGD_ID:5130755 8922983 Cat catalase gene DOID:9004673 Hearing Loss, Cisplatin-Induced ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:cochlear: PMID:10220857|REF_RGD_ID:9197256 8922983 Cat catalase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17227729 8922983 Cat catalase gene DOID:9004989 Protein Deficiency ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15865262 8922983 Cat catalase gene DOID:9005452 Ureteral Calculi ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 8922983 Cat catalase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:20376213|REF_RGD_ID:5130772 8922983 Cat catalase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12123627|PMID:15855331|PMID:20709041 8922983 Cat catalase gene DOID:9005749 Necrosis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17309078|PMID:9548797 8922983 Cat catalase gene DOID:9006024 Hypotension ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15612528 8922983 Cat catalase gene DOID:9006928 Viral Bronchiolitis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased expression:nasal mucus PMID:21471094|REF_RGD_ID:5130770 8922983 Cat catalase gene DOID:9006928 Viral Bronchiolitis ISO RGD:737448 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:21471094|REF_RGD_ID:5130770 8922983 Cat catalase gene DOID:9007355 Hashimoto Disease ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:20204550|REF_RGD_ID:9068926 8922983 Cat catalase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21138988|REF_RGD_ID:7241599 8922983 Cat catalase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:25231249 8922983 Cat catalase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20516118|PMID:21742780|PMID:23518002|PMID:25448439|PMID:27323401|PMID:28881718 8922983 Cat catalase gene DOID:9007692 Insulin Resistance ISO RGD:732740 D RGD:9068941 20200609 RGD associated with Obesity PMID:19188683|REF_RGD_ID:5130761 8922983 Cat catalase gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21252394|PMID:26074427 8922983 Cat catalase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:11510883|REF_RGD_ID:1581149 8922983 Cat catalase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21600015 8922983 Cat catalase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19109989 8922983 Cat catalase gene DOID:9008510 Chronic Hepatitis ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 8922983 Cat catalase gene DOID:9008939 Breast Neoplasms ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322848 8922983 Cat catalase gene DOID:9009039 Hyperemia ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10792963 8922983 Cat catalase gene DOID:9074 systemic lupus erythematosus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27497885 8922983 Cat catalase gene DOID:9111 cutaneous leishmaniasis ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:9892499|REF_RGD_ID:9479188 8922983 Cat catalase gene DOID:9182 pemphigus ISO RGD:732740 D RGD:9068941 20200609 RGD protein:increased activities:skin: PMID:22738420|REF_RGD_ID:9479165 8922983 Cat catalase gene DOID:9201 lichen planus ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:20372767|REF_RGD_ID:9479158 8922983 Cat catalase gene DOID:9281 phenylketonuria ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased activity:brain: PMID:23232760|REF_RGD_ID:9068874 8922983 Cat catalase gene DOID:9351 diabetes mellitus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11117918 8922983 Cat catalase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15111504|PMID:15531508 8922983 Cat catalase gene DOID:9352 type 2 diabetes mellitus ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:12357295|REF_RGD_ID:9068922 8922983 Cat catalase gene DOID:9452 steatotic liver disease ISO RGD:2279 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21452373|REF_RGD_ID:5130871 8922983 Cat catalase gene DOID:9452 steatotic liver disease ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 8922983 Cat catalase gene DOID:9477 pulmonary embolism ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2510358 8922983 Cat catalase gene DOID:9637 stomatitis ISO RGD:2279 D RGD:9068941 20200609 RGD PMID:10569634|REF_RGD_ID:5130878 8922983 Cat catalase gene DOID:9669 senile cataract ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:serum: PMID:23781296|REF_RGD_ID:9068934 8922983 Cat catalase gene DOID:9669 senile cataract treatment ISO RGD:732740 D RGD:9068941 20200609 RGD PMID:16129095|REF_RGD_ID:10003112 8922983 Cat catalase gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:732740 D RGD:9068941 20200609 RGD protein:decreased activity:vitreous humor: PMID:10450379|REF_RGD_ID:9068932 8922983 Cat catalase gene DOID:9743 diabetic neuropathy ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10780678 8922983 Cat catalase gene DOID:9744 type 1 diabetes mellitus ISO RGD:732740 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15111504 8923000 Sod2 superoxide dismutase 2 gene DOID:0050424 familial adenomatous polyposis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12907644 8923000 Sod2 superoxide dismutase 2 gene DOID:0050464 Farber lipogranulomatosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10428046 8923000 Sod2 superoxide dismutase 2 gene DOID:0050700 cardiomyopathy ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:15890620|REF_RGD_ID:1581220 8923000 Sod2 superoxide dismutase 2 gene DOID:0050700 cardiomyopathy ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23536361 8923000 Sod2 superoxide dismutase 2 gene DOID:0050700 cardiomyopathy ISO RGD:730872 D RGD:9068941 20200609 RGD associated with hemochromatosis;DNA:polymorphism: :p.A16V (human) PMID:15591282|REF_RGD_ID:1580836 8923000 Sod2 superoxide dismutase 2 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 8923000 Sod2 superoxide dismutase 2 gene DOID:0050855 renal fibrosis ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:19458120|REF_RGD_ID:7175536 8923000 Sod2 superoxide dismutase 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332|PMID:21472284 8923000 Sod2 superoxide dismutase 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:11330 D RGD:9068941 20220825 MouseDO OMIM:105400 8923000 Sod2 superoxide dismutase 2 gene DOID:0060326 myelomeningocele ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972774 8923000 Sod2 superoxide dismutase 2 gene DOID:0080132 Sengers syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23266196 8923000 Sod2 superoxide dismutase 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15094225|REF_RGD_ID:1581245 8923000 Sod2 superoxide dismutase 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:24597775|REF_RGD_ID:11352823 8923000 Sod2 superoxide dismutase 2 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15887859 8923000 Sod2 superoxide dismutase 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis susceptibility ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 8923000 Sod2 superoxide dismutase 2 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:24649902|REF_RGD_ID:26923960 8923000 Sod2 superoxide dismutase 2 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:730872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8923000 Sod2 superoxide dismutase 2 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:730872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 8923000 Sod2 superoxide dismutase 2 gene DOID:10003 sensorineural hearing loss ISO RGD:3732 D RGD:9068941 20200609 RGD protein:increased activity:cochlea: PMID:15109710|REF_RGD_ID:8547516 8923000 Sod2 superoxide dismutase 2 gene DOID:10534 stomach cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12469139|REF_RGD_ID:1581255 8923000 Sod2 superoxide dismutase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:19293779|REF_RGD_ID:8158049 8923000 Sod2 superoxide dismutase 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16319717 8923000 Sod2 superoxide dismutase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 8923000 Sod2 superoxide dismutase 2 gene DOID:10652 Alzheimer's disease ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:16369462|REF_RGD_ID:1579972 8923000 Sod2 superoxide dismutase 2 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs2842980(human) PMID:23638916|REF_RGD_ID:8158079 8923000 Sod2 superoxide dismutase 2 gene DOID:10763 hypertension ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:16716903|REF_RGD_ID:1580833 8923000 Sod2 superoxide dismutase 2 gene DOID:10763 hypertension ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11834524|PMID:21593737|PMID:25101153 8923000 Sod2 superoxide dismutase 2 gene DOID:10763 hypertension ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:16716903|REF_RGD_ID:1580833 8923000 Sod2 superoxide dismutase 2 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V16A(rs4880)(human) PMID:18573360|REF_RGD_ID:8158102 8923000 Sod2 superoxide dismutase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729580|PMID:18930813 8923000 Sod2 superoxide dismutase 2 gene DOID:11054 urinary bladder cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:17974967|REF_RGD_ID:7175539 8923000 Sod2 superoxide dismutase 2 gene DOID:11088 asphyxia neonatorum ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 8923000 Sod2 superoxide dismutase 2 gene DOID:11335 sarcoidosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 8923000 Sod2 superoxide dismutase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:25070658|REF_RGD_ID:11035305 8923000 Sod2 superoxide dismutase 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8923000 Sod2 superoxide dismutase 2 gene DOID:11476 osteoporosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8923000 Sod2 superoxide dismutase 2 gene DOID:11476 osteoporosis no_association ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, exon, intron:multiple PMID:26336112|REF_RGD_ID:11035299 8923000 Sod2 superoxide dismutase 2 gene DOID:11476 osteoporosis susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human) PMID:26336112|REF_RGD_ID:11035299 8923000 Sod2 superoxide dismutase 2 gene DOID:11713 diabetic angiopathy ISO RGD:730872 D RGD:7240710 20180130 OMIM 8923000 Sod2 superoxide dismutase 2 gene DOID:11713 diabetic angiopathy ISO RGD:730872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUPEROXIDE DISMUTASE 2 POLYMORPHISM PMID:10425186|PMID:12624725|PMID:15591282|PMID:16538174|PMID:17192491|PMID:8633092 8923000 Sod2 superoxide dismutase 2 gene DOID:11714 gestational diabetes ISO RGD:730872 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:23956348|PMID:30738174|PMID:34175429 8923000 Sod2 superoxide dismutase 2 gene DOID:1184 nephrotic syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9152291 8923000 Sod2 superoxide dismutase 2 gene DOID:1184 nephrotic syndrome ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:9152291|REF_RGD_ID:11035285 8923000 Sod2 superoxide dismutase 2 gene DOID:11963 esophagitis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11121210 8923000 Sod2 superoxide dismutase 2 gene DOID:1210 optic neuritis ISO RGD:11330 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental; PMID:17251466|REF_RGD_ID:8158052 8923000 Sod2 superoxide dismutase 2 gene DOID:1210 optic neuritis ISO RGD:730872 D RGD:9068941 20200609 RGD associated with Encephalomyelitis, Autoimmune, Experimental; PMID:17251466|REF_RGD_ID:8158052 8923000 Sod2 superoxide dismutase 2 gene DOID:12217 Lewy body dementia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141792 8923000 Sod2 superoxide dismutase 2 gene DOID:12236 primary biliary cholangitis ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1682406|REF_RGD_ID:2317411 8923000 Sod2 superoxide dismutase 2 gene DOID:12306 vitiligo disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD DNA, mRNA, protein:SNPs, increased expression:cds:p.L84F (rs11575993), p.T58I (rs35289490), skin, leukocyte (human) PMID:24036105|REF_RGD_ID:8547522 8923000 Sod2 superoxide dismutase 2 gene DOID:12336 male infertility ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22206979 8923000 Sod2 superoxide dismutase 2 gene DOID:12556 acute kidney tubular necrosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19917352 8923000 Sod2 superoxide dismutase 2 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907800|PMID:14680979 8923000 Sod2 superoxide dismutase 2 gene DOID:12858 Huntington's disease susceptibility ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11161607|REF_RGD_ID:13464352 8923000 Sod2 superoxide dismutase 2 gene DOID:1289 neurodegenerative disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10942521|PMID:12709579|PMID:15964507 8923000 Sod2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11677043|REF_RGD_ID:1581260 8923000 Sod2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:11330 D RGD:9068941 20220825 MouseDO 8923000 Sod2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095|PMID:21195081 8923000 Sod2 superoxide dismutase 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:10425186|REF_RGD_ID:1580837 8923000 Sod2 superoxide dismutase 2 gene DOID:13141 uveitis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578012|PMID:21850155 8923000 Sod2 superoxide dismutase 2 gene DOID:1324 lung cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15213518|REF_RGD_ID:1581247 8923000 Sod2 superoxide dismutase 2 gene DOID:13641 exfoliation syndrome ISO RGD:730872 D RGD:9068941 20200609 RGD associated with cataract;mRNA:increased expression:lens epithelium: PMID:23805041|REF_RGD_ID:8158048 8923000 Sod2 superoxide dismutase 2 gene DOID:13641 exfoliation syndrome ISO RGD:730872 D RGD:9068941 20200609 RGD associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris: PMID:18055805|REF_RGD_ID:7794853 8923000 Sod2 superoxide dismutase 2 gene DOID:1389 polyneuropathy ISO RGD:730872 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:exon:p.A-9V (human) PMID:12815947|REF_RGD_ID:1581254 8923000 Sod2 superoxide dismutase 2 gene DOID:13948 bladder neck obstruction ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:21060756|REF_RGD_ID:7175518 8923000 Sod2 superoxide dismutase 2 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731237 8923000 Sod2 superoxide dismutase 2 gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP: : 47T>C(human) PMID:26873981|REF_RGD_ID:11060603 8923000 Sod2 superoxide dismutase 2 gene DOID:14323 Marfan syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 8923000 Sod2 superoxide dismutase 2 gene DOID:14330 Parkinson's disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17188257|PMID:18353766|PMID:25279756 8923000 Sod2 superoxide dismutase 2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11161607|REF_RGD_ID:13464352 8923000 Sod2 superoxide dismutase 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12946273|REF_RGD_ID:1581253 8923000 Sod2 superoxide dismutase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:14679299|REF_RGD_ID:8158045 8923000 Sod2 superoxide dismutase 2 gene DOID:14566 disease of cellular proliferation ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11165872|PMID:11278550|PMID:11853549|PMID:12032862|PMID:17632733|PMID:19676086 8923000 Sod2 superoxide dismutase 2 gene DOID:1459 hypothyroidism treatment ISO RGD:3732 D RGD:9068941 20200903 RGD PMID:29896255|REF_RGD_ID:38549578 8923000 Sod2 superoxide dismutase 2 gene DOID:1470 major depressive disorder ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 8923000 Sod2 superoxide dismutase 2 gene DOID:14749 methylmalonic acidemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 8923000 Sod2 superoxide dismutase 2 gene DOID:1555 urticaria ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:12780723|REF_RGD_ID:8547524 8923000 Sod2 superoxide dismutase 2 gene DOID:1612 breast cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15883815|REF_RGD_ID:1581240 8923000 Sod2 superoxide dismutase 2 gene DOID:1679 cystitis ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:26109091|REF_RGD_ID:11035303 8923000 Sod2 superoxide dismutase 2 gene DOID:1749 squamous cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12543247|PMID:15274141 8923000 Sod2 superoxide dismutase 2 gene DOID:178 vascular disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18596060 8923000 Sod2 superoxide dismutase 2 gene DOID:1790 malignant mesothelioma ISO RGD:730872 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:20617513 8923000 Sod2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12700280|REF_RGD_ID:1581235 8923000 Sod2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer ISO RGD:730872 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:11328670|PMID:17895890 8923000 Sod2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12499913|REF_RGD_ID:2317410 8923000 Sod2 superoxide dismutase 2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.A16V (human) PMID:18205184|REF_RGD_ID:2317406 8923000 Sod2 superoxide dismutase 2 gene DOID:1824 status epilepticus ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:25333348|REF_RGD_ID:11035304 8923000 Sod2 superoxide dismutase 2 gene DOID:1909 melanoma ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8541726|REF_RGD_ID:8547533 8923000 Sod2 superoxide dismutase 2 gene DOID:1936 atherosclerosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12677255|PMID:20720404 8923000 Sod2 superoxide dismutase 2 gene DOID:224 transient cerebral ischemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11333366 8923000 Sod2 superoxide dismutase 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:30716316|REF_RGD_ID:27095883 8923000 Sod2 superoxide dismutase 2 gene DOID:2316 brain ischemia ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:10212301|REF_RGD_ID:1625695 8923000 Sod2 superoxide dismutase 2 gene DOID:2316 brain ischemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15060315|PMID:17901229|PMID:19429140 8923000 Sod2 superoxide dismutase 2 gene DOID:2355 anemia ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:8790408|REF_RGD_ID:1581262 8923000 Sod2 superoxide dismutase 2 gene DOID:2355 anemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20800516 8923000 Sod2 superoxide dismutase 2 gene DOID:2394 ovarian cancer ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:16179351|REF_RGD_ID:1581239 8923000 Sod2 superoxide dismutase 2 gene DOID:2615 papilloma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11507057 8923000 Sod2 superoxide dismutase 2 gene DOID:2738 pseudoxanthoma elasticum onset ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:c.47C>T(rs4880)(human) PMID:17693525|REF_RGD_ID:8547520 8923000 Sod2 superoxide dismutase 2 gene DOID:2741 bilirubin metabolic disorder treatment ISO RGD:730872 D RGD:9068941 20200609 RGD associated with acute lymphoblastic leukemia;DNA:SNP: :(rs4880)(human) PMID:27019981|REF_RGD_ID:11060605 8923000 Sod2 superoxide dismutase 2 gene DOID:2841 asthma ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15743779|REF_RGD_ID:1581231 8923000 Sod2 superoxide dismutase 2 gene DOID:299 adenocarcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12907644 8923000 Sod2 superoxide dismutase 2 gene DOID:3008 invasive ductal carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23964924 8923000 Sod2 superoxide dismutase 2 gene DOID:305 carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:11053990 8923000 Sod2 superoxide dismutase 2 gene DOID:3082 interstitial lung disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 8923000 Sod2 superoxide dismutase 2 gene DOID:326 ischemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11328670|PMID:18227068 8923000 Sod2 superoxide dismutase 2 gene DOID:331 central nervous system disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10942521 8923000 Sod2 superoxide dismutase 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8866423 8923000 Sod2 superoxide dismutase 2 gene DOID:3407 carotid artery disease ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12732398|REF_RGD_ID:1580838 8923000 Sod2 superoxide dismutase 2 gene DOID:3429 inclusion body myositis ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:11837748|REF_RGD_ID:1581257 8923000 Sod2 superoxide dismutase 2 gene DOID:3491 Turner syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 8923000 Sod2 superoxide dismutase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 8923000 Sod2 superoxide dismutase 2 gene DOID:3613 Canavan disease ISO RGD:11330 D RGD:9068941 20220825 MouseDO OMIM:271900 8923000 Sod2 superoxide dismutase 2 gene DOID:3652 Leigh disease ISO RGD:11330 D RGD:9068941 20220825 MouseDO OMIM:220111 | OMIM:256000 8923000 Sod2 superoxide dismutase 2 gene DOID:3687 MELAS syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907800 8923000 Sod2 superoxide dismutase 2 gene DOID:37 skin disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8923000 Sod2 superoxide dismutase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18167182|PMID:21517111 8923000 Sod2 superoxide dismutase 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:26534761|REF_RGD_ID:11035301 8923000 Sod2 superoxide dismutase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11731445|PMID:17094902 8923000 Sod2 superoxide dismutase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8923000 Sod2 superoxide dismutase 2 gene DOID:417 autoimmune disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 8923000 Sod2 superoxide dismutase 2 gene DOID:4448 macular degeneration ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:17898259|REF_RGD_ID:8158047 8923000 Sod2 superoxide dismutase 2 gene DOID:4450 renal cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8923000 Sod2 superoxide dismutase 2 gene DOID:4661 multiple chemical sensitivity ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23967348 8923000 Sod2 superoxide dismutase 2 gene DOID:4724 brain edema ISO RGD:730872 D RGD:9068941 20230727 RGD mRNA:increased expression:neocortex,Pyramidal cells (human) PMID:27487831|REF_RGD_ID:329969876 8923000 Sod2 superoxide dismutase 2 gene DOID:4914 esophagus adenocarcinoma ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:17785574|REF_RGD_ID:2317403 8923000 Sod2 superoxide dismutase 2 gene DOID:5082 liver cirrhosis ISO RGD:730872 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 8923000 Sod2 superoxide dismutase 2 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Ala16Val(rs1799725)(human) PMID:19731237|REF_RGD_ID:26923907 8923000 Sod2 superoxide dismutase 2 gene DOID:520 aortic disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 8923000 Sod2 superoxide dismutase 2 gene DOID:5295 intestinal disease treatment ISO RGD:3732 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:26301045|REF_RGD_ID:11035302 8923000 Sod2 superoxide dismutase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20618948 8923000 Sod2 superoxide dismutase 2 gene DOID:557 kidney disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917352|PMID:21571061 8923000 Sod2 superoxide dismutase 2 gene DOID:574 peripheral nervous system disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 8923000 Sod2 superoxide dismutase 2 gene DOID:583 hemolytic anemia ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11304553|REF_RGD_ID:11035277 8923000 Sod2 superoxide dismutase 2 gene DOID:5844 myocardial infarction ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:14575298|PMID:9250167|REF_RGD_ID:1580839|REF_RGD_ID:1581148 8923000 Sod2 superoxide dismutase 2 gene DOID:5844 myocardial infarction ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12160945 8923000 Sod2 superoxide dismutase 2 gene DOID:5844 myocardial infarction ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:2313102|REF_RGD_ID:1580840 8923000 Sod2 superoxide dismutase 2 gene DOID:6000 congestive heart failure ISO RGD:11330 D RGD:9068941 20220825 MouseDO 8923000 Sod2 superoxide dismutase 2 gene DOID:6000 congestive heart failure ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16105639|PMID:16155095|PMID:20304815|PMID:21195081|PMID:21284947 8923000 Sod2 superoxide dismutase 2 gene DOID:6196 reactive arthritis ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:14687717|REF_RGD_ID:1581251 8923000 Sod2 superoxide dismutase 2 gene DOID:630 genetic disease ISO RGD:730872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923000 Sod2 superoxide dismutase 2 gene DOID:6432 pulmonary hypertension ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20110409 8923000 Sod2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15869407|REF_RGD_ID:1581242 8923000 Sod2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:saliva PMID:31041878|REF_RGD_ID:27095881 8923000 Sod2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730872 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:16767786|PMID:18760346|PMID:19731237|PMID:21472284|PMID:33010264 8923000 Sod2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:27221200|REF_RGD_ID:26923955 8923000 Sod2 superoxide dismutase 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD associated with liver cirrhosis; DNA:SNP:cds:p.Ala16Val(rs1799725)(human) PMID:19731237|REF_RGD_ID:26923907 8923000 Sod2 superoxide dismutase 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9917329 8923000 Sod2 superoxide dismutase 2 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:12601034|REF_RGD_ID:8158104 8923000 Sod2 superoxide dismutase 2 gene DOID:705 Leber hereditary optic neuropathy treatment ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15293270|REF_RGD_ID:8158101 8923000 Sod2 superoxide dismutase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524|PMID:15292528|PMID:24313545 8923000 Sod2 superoxide dismutase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta PMID:17196988|REF_RGD_ID:1625699 8923000 Sod2 superoxide dismutase 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17196988 8923000 Sod2 superoxide dismutase 2 gene DOID:7998 hyperthyroidism ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 8923000 Sod2 superoxide dismutase 2 gene DOID:8398 osteoarthritis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528|PMID:18784066|PMID:22108257 8923000 Sod2 superoxide dismutase 2 gene DOID:841 extrinsic allergic alveolitis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 8923000 Sod2 superoxide dismutase 2 gene DOID:850 lung disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8063194 8923000 Sod2 superoxide dismutase 2 gene DOID:8568 infectious mononucleosis ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:7964476|REF_RGD_ID:11035288 8923000 Sod2 superoxide dismutase 2 gene DOID:8646 substance-induced psychosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16807759 8923000 Sod2 superoxide dismutase 2 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 8923000 Sod2 superoxide dismutase 2 gene DOID:8691 mycosis fungoides ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:20833513|REF_RGD_ID:8547521 8923000 Sod2 superoxide dismutase 2 gene DOID:8893 psoriasis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7744320 8923000 Sod2 superoxide dismutase 2 gene DOID:8893 psoriasis ISO RGD:730872 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:7744320|REF_RGD_ID:8547526 8923000 Sod2 superoxide dismutase 2 gene DOID:8955 sideroblastic anemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16910769|PMID:21326867 8923000 Sod2 superoxide dismutase 2 gene DOID:9000025 Central Nervous System Infections ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15337840|REF_RGD_ID:1581246 8923000 Sod2 superoxide dismutase 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:15454275|REF_RGD_ID:1581234 8923000 Sod2 superoxide dismutase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:19381893|PMID:20618948 8923000 Sod2 superoxide dismutase 2 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD associated with tongue neoplasms; PMID:20618948|REF_RGD_ID:8547519 8923000 Sod2 superoxide dismutase 2 gene DOID:9000111 Radiation Injuries ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16540396|PMID:21945096 8923000 Sod2 superoxide dismutase 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11053990|PMID:15986332 8923000 Sod2 superoxide dismutase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:14503839|PMID:19424620|PMID:25279216 8923000 Sod2 superoxide dismutase 2 gene DOID:9000307 Presbycusis ISO RGD:3732 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:auditory cortex: PMID:24505357|REF_RGD_ID:8158103 8923000 Sod2 superoxide dismutase 2 gene DOID:9000582 Reticulocytosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20800516 8923000 Sod2 superoxide dismutase 2 gene DOID:9000784 Fibrosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19293248 8923000 Sod2 superoxide dismutase 2 gene DOID:9000815 Aortic Calcification ISO RGD:3732 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta PMID:25430697|REF_RGD_ID:11038653 8923000 Sod2 superoxide dismutase 2 gene DOID:9000837 Esophageal Stenosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11121210 8923000 Sod2 superoxide dismutase 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11121210|PMID:20726721 8923000 Sod2 superoxide dismutase 2 gene DOID:9000918 Disease Progression ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10673208|PMID:11283936|PMID:16081686|PMID:18930813|PMID:20618948|PMID:21749277|PMID:22547077 8923000 Sod2 superoxide dismutase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12538496|PMID:18930813|PMID:19487542|PMID:22580338 8923000 Sod2 superoxide dismutase 2 gene DOID:9000972 Fever ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11165872 8923000 Sod2 superoxide dismutase 2 gene DOID:9000998 Brain Injuries ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:16248885|REF_RGD_ID:1581214 8923000 Sod2 superoxide dismutase 2 gene DOID:9000998 Brain Injuries ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24462953 8923000 Sod2 superoxide dismutase 2 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:32236798|REF_RGD_ID:27095880 8923000 Sod2 superoxide dismutase 2 gene DOID:9001312 Tardive Dyskinesia ISO RGD:730872 D RGD:9068941 20200609 RGD associated with schizophrenia PMID:12960753|REF_RGD_ID:1581250 8923000 Sod2 superoxide dismutase 2 gene DOID:9001472 Nasal Polyps ISO RGD:730872 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA,protein:decreased expression:nasal mucosa: PMID:23921602|REF_RGD_ID:8547534 8923000 Sod2 superoxide dismutase 2 gene DOID:9001542 Albuminuria ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942768 8923000 Sod2 superoxide dismutase 2 gene DOID:9001607 Hypopharyngeal Neoplasms susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs5746134(human) PMID:21940907|REF_RGD_ID:8158078 8923000 Sod2 superoxide dismutase 2 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8923000 Sod2 superoxide dismutase 2 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:26073907|REF_RGD_ID:26923954 8923000 Sod2 superoxide dismutase 2 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3732 D RGD:9068941 20200609 RGD protein:decreased activity:retina: PMID:22240151|REF_RGD_ID:8158043 8923000 Sod2 superoxide dismutase 2 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:22240151|REF_RGD_ID:8158043 8923000 Sod2 superoxide dismutase 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19293248 8923000 Sod2 superoxide dismutase 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:3732 D RGD:9068941 20200609 RGD protein:decreased expression:pulmonary artery PMID:20529999|REF_RGD_ID:27095884 8923000 Sod2 superoxide dismutase 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:730872 D RGD:9068941 20200609 RGD protein:decreased expression:small pulmonary artery PMID:20529999|REF_RGD_ID:27095884 8923000 Sod2 superoxide dismutase 2 gene DOID:9001946 Skin Abnormalities ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24494196 8923000 Sod2 superoxide dismutase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24819633 8923000 Sod2 superoxide dismutase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:17192491|REF_RGD_ID:7175540 8923000 Sod2 superoxide dismutase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 8923000 Sod2 superoxide dismutase 2 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673208 8923000 Sod2 superoxide dismutase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12592389|PMID:17465268|PMID:17646272|PMID:18829485|PMID:19074884|PMID:22564066|PMID:23315858|PMID:26468117 8923000 Sod2 superoxide dismutase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15512801|REF_RGD_ID:1581244 8923000 Sod2 superoxide dismutase 2 gene DOID:9002669 Hypoxia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771|PMID:19579223 8923000 Sod2 superoxide dismutase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179351|PMID:18594523 8923000 Sod2 superoxide dismutase 2 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.V16A(rs4880)(human) PMID:20534900|REF_RGD_ID:8158046 8923000 Sod2 superoxide dismutase 2 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron:IVS3-23T>G, IVS3-60T>G (human) PMID:15345661|REF_RGD_ID:8158044 8923000 Sod2 superoxide dismutase 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25279216 8923000 Sod2 superoxide dismutase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11146106 8923000 Sod2 superoxide dismutase 2 gene DOID:9003507 Premature Birth ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055944 8923000 Sod2 superoxide dismutase 2 gene DOID:9003566 Mesothelioma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11283936|PMID:15039138|PMID:17290392|PMID:9533946 8923000 Sod2 superoxide dismutase 2 gene DOID:9003936 Cardiomegaly ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19293248 8923000 Sod2 superoxide dismutase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3732 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:15612529|REF_RGD_ID:1582141 8923000 Sod2 superoxide dismutase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16682413|PMID:19193722|PMID:19917352|PMID:21940958|PMID:23743330|PMID:8215636 8923000 Sod2 superoxide dismutase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15087276|REF_RGD_ID:1581259 8923000 Sod2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:12032821|REF_RGD_ID:8547517 8923000 Sod2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11507057|PMID:20454814|PMID:22009531|PMID:25362851 8923000 Sod2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15130280|REF_RGD_ID:8547532 8923000 Sod2 superoxide dismutase 2 gene DOID:9004464 Skin Neoplasms disease_progression ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:22009531|REF_RGD_ID:8547525 8923000 Sod2 superoxide dismutase 2 gene DOID:9004484 Sepsis ISO RGD:3732 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:26266917|REF_RGD_ID:11035300 8923000 Sod2 superoxide dismutase 2 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) PMID:20309628|REF_RGD_ID:11035278 8923000 Sod2 superoxide dismutase 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15887859|REF_RGD_ID:1581241 8923000 Sod2 superoxide dismutase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:11053990|PMID:15048980|PMID:15654357|PMID:21749277|PMID:22580338 8923000 Sod2 superoxide dismutase 2 gene DOID:9005036 Bacteremia ISO RGD:11330 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:24253037|REF_RGD_ID:26923958 8923000 Sod2 superoxide dismutase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23964924 8923000 Sod2 superoxide dismutase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3732 D RGD:9068941 20200609 RGD protein:increased activity:testes PMID:19891634|REF_RGD_ID:2317382 8923000 Sod2 superoxide dismutase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15855331|PMID:23090186 8923000 Sod2 superoxide dismutase 2 gene DOID:9005749 Necrosis ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19293248|PMID:9548797 8923000 Sod2 superoxide dismutase 2 gene DOID:9005873 Tongue Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20618948 8923000 Sod2 superoxide dismutase 2 gene DOID:9005873 Tongue Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:tongue: PMID:20618948|REF_RGD_ID:8547519 8923000 Sod2 superoxide dismutase 2 gene DOID:9005930 Endotoxemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 8923000 Sod2 superoxide dismutase 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:730872 D RGD:9068941 20230928 RGD associated with coronary artery disease;DNA:SNP: :rs4880 (human) PMID:31396447|REF_RGD_ID:401827159 8923000 Sod2 superoxide dismutase 2 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:28875871|REF_RGD_ID:26923956 8923000 Sod2 superoxide dismutase 2 gene DOID:9006924 Cardiogenic Shock ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062213 8923000 Sod2 superoxide dismutase 2 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:11477087|REF_RGD_ID:1625694 8923000 Sod2 superoxide dismutase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:15681709|REF_RGD_ID:1581233 8923000 Sod2 superoxide dismutase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8923000 Sod2 superoxide dismutase 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12543247|PMID:15274141 8923000 Sod2 superoxide dismutase 2 gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs4342445(human) PMID:21940907|REF_RGD_ID:8158078 8923000 Sod2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8923000 Sod2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:19647030|REF_RGD_ID:26923961 8923000 Sod2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:19332662|REF_RGD_ID:26923959 8923000 Sod2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Val16Ala(human) PMID:20578157|REF_RGD_ID:26923957 8923000 Sod2 superoxide dismutase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:730872 D RGD:9068941 20200609 RGD associated with acute lymphoblastic leukemia;DNA:SNP: :(rs4880)(human) PMID:27019981|REF_RGD_ID:11060605 8923000 Sod2 superoxide dismutase 2 gene DOID:9007480 Hyperoxia ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:2001291|REF_RGD_ID:729952 8923000 Sod2 superoxide dismutase 2 gene DOID:9007502 Brain Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21749277 8923000 Sod2 superoxide dismutase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20516118|PMID:21742780|PMID:23964924|PMID:25448439|PMID:9067545 8923000 Sod2 superoxide dismutase 2 gene DOID:9007692 Insulin Resistance ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22829583 8923000 Sod2 superoxide dismutase 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:11330 D RGD:9068941 20200609 RGD PMID:11864929|REF_RGD_ID:1581222 8923000 Sod2 superoxide dismutase 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:12668130|REF_RGD_ID:11035287 8923000 Sod2 superoxide dismutase 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8923000 Sod2 superoxide dismutase 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10853026|PMID:12907644 8923000 Sod2 superoxide dismutase 2 gene DOID:9008443 Colorectal Neoplasms onset ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:11836586|REF_RGD_ID:1581258 8923000 Sod2 superoxide dismutase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17965603|PMID:19385967|PMID:19756960|PMID:20562527 8923000 Sod2 superoxide dismutase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15168344|REF_RGD_ID:1581248 8923000 Sod2 superoxide dismutase 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :1183C>T (human) PMID:14611903|REF_RGD_ID:1581249 8923000 Sod2 superoxide dismutase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:730872 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:1596865|REF_RGD_ID:11035286 8923000 Sod2 superoxide dismutase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:16769586|REF_RGD_ID:11035289 8923000 Sod2 superoxide dismutase 2 gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:3732 D RGD:9068941 20200609 RGD PMID:24563435|REF_RGD_ID:11035307 8923000 Sod2 superoxide dismutase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 8923000 Sod2 superoxide dismutase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A16V (human) PMID:18423055|REF_RGD_ID:2312364 8923000 Sod2 superoxide dismutase 2 gene DOID:9452 steatotic liver disease ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 8923000 Sod2 superoxide dismutase 2 gene DOID:9538 multiple myeloma ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15908783 8923000 Sod2 superoxide dismutase 2 gene DOID:9538 multiple myeloma ISO RGD:730872 D RGD:9068941 20200609 RGD PMID:15908783|REF_RGD_ID:1581238 8923000 Sod2 superoxide dismutase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730872 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A16V (human) PMID:18423055|REF_RGD_ID:2312364 8923000 Sod2 superoxide dismutase 2 gene DOID:9970 obesity ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317704|PMID:23956348|PMID:30738174 8923000 Sod2 superoxide dismutase 2 gene DOID:9993 hypoglycemia ISO RGD:730872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620209 8923009 Syndig1l synapse differentiation inducing 1 like gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1602232 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 8923009 Syndig1l synapse differentiation inducing 1 like gene DOID:1059 intellectual disability ISO RGD:1602232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8923009 Syndig1l synapse differentiation inducing 1 like gene DOID:630 genetic disease ISO RGD:1602232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923016 Cdk12 cyclin dependent kinase 12 gene DOID:10534 stomach cancer exacerbates ISO RGD:733880 D RGD:9068941 20220303 RGD protein:decreased expression:stomach (human) PMID:32534699|REF_RGD_ID:151361171 8923016 Cdk12 cyclin dependent kinase 12 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:733880 D RGD:9068941 20220303 RGD protein:increased expression:stomach (human) PMID:31523177|REF_RGD_ID:151361173 8923016 Cdk12 cyclin dependent kinase 12 gene DOID:3910 lung adenocarcinoma ISO RGD:733880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma 8923016 Cdk12 cyclin dependent kinase 12 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733880 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24728327|PMID:25741868 8923016 Cdk12 cyclin dependent kinase 12 gene DOID:630 genetic disease ISO RGD:733880 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923016 Cdk12 cyclin dependent kinase 12 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:733880 D RGD:9068941 20220303 RGD mRNA, protein:increased expression:liver (human) PMID:31519701|REF_RGD_ID:151361172 8923016 Cdk12 cyclin dependent kinase 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8923033 Osmr oncostatin M receptor gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:1352311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8923033 Osmr oncostatin M receptor gene DOID:0080600 COVID-19 ISO RGD:1352311 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8923033 Osmr oncostatin M receptor gene DOID:0080930 primary localized cutaneous amyloidosis 1 ISO RGD:1352311 D RGD:7240710 20190327 OMIM 8923033 Osmr oncostatin M receptor gene DOID:0080930 primary localized cutaneous amyloidosis 1 ISO RGD:1352311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 1 PMID:18179886|PMID:19690585 8923033 Osmr oncostatin M receptor gene DOID:1790 malignant mesothelioma ISO RGD:1352311 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8923033 Osmr oncostatin M receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 8923033 Osmr oncostatin M receptor gene DOID:630 genetic disease ISO RGD:1352311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8923033 Osmr oncostatin M receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8923059 Katnbl1 katanin regulatory subunit B1 like 1 gene DOID:2717 Bloom syndrome ISO RGD:1314664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8923059 Katnbl1 katanin regulatory subunit B1 like 1 gene DOID:630 genetic disease ISO RGD:1314664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923059 Katnbl1 katanin regulatory subunit B1 like 1 gene DOID:9256 colorectal cancer ISO RGD:1314664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8923130 Gem GTP binding protein overexpressed in skeletal muscle gene DOID:11372 megacolon ISO RGD:1316557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8923130 Gem GTP binding protein overexpressed in skeletal muscle gene DOID:1686 glaucoma ISO RGD:1307386 D RGD:9068941 20221027 RGD mRNA:decreased expression:optic nerve head (rat) PMID:28990066|REF_RGD_ID:155630605 8923130 Gem GTP binding protein overexpressed in skeletal muscle gene DOID:630 genetic disease ISO RGD:1316557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923142 Cbln3 cerebellin 3 precursor gene DOID:0060439 lysinuric protein intolerance ISO RGD:1343800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8923142 Cbln3 cerebellin 3 precursor gene DOID:630 genetic disease ISO RGD:1343800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923142 Cbln3 cerebellin 3 precursor gene DOID:9000265 Specific Granule Deficiency ISO RGD:1343800 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8923142 Cbln3 cerebellin 3 precursor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343800 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8923153 Efcab9 EF-hand calcium binding domain 9 gene DOID:630 genetic disease ISO RGD:2301263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923188 Dhdh dihydrodiol dehydrogenase gene DOID:10283 prostate cancer ISO RGD:1323810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8923188 Dhdh dihydrodiol dehydrogenase gene DOID:630 genetic disease ISO RGD:1323810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923188 Dhdh dihydrodiol dehydrogenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 8923210 Mavs mitochondrial antiviral signaling protein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1606258 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8923210 Mavs mitochondrial antiviral signaling protein gene DOID:2366 West Nile fever severity ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:28094802|REF_RGD_ID:40903045 8923210 Mavs mitochondrial antiviral signaling protein gene DOID:3298 vaccinia treatment ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:26849062|REF_RGD_ID:40903043 8923210 Mavs mitochondrial antiviral signaling protein gene DOID:3482 plague susceptibility ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:25064677|REF_RGD_ID:40903046 8923210 Mavs mitochondrial antiviral signaling protein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1606258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:25741868|PMID:28492532 8923210 Mavs mitochondrial antiviral signaling protein gene DOID:630 genetic disease ISO RGD:1606258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923210 Mavs mitochondrial antiviral signaling protein gene DOID:8469 influenza treatment ISO RGD:1614930 D RGD:9068941 20201225 RGD PMID:31461653|REF_RGD_ID:40902992 8923210 Mavs mitochondrial antiviral signaling protein gene DOID:9000371 influenza A disease_progression ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:27438481|REF_RGD_ID:40903047 8923210 Mavs mitochondrial antiviral signaling protein gene DOID:9000645 Rotavirus Infections severity ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:30460894|REF_RGD_ID:40903048 8923210 Mavs mitochondrial antiviral signaling protein gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1606258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8923210 Mavs mitochondrial antiviral signaling protein gene DOID:9005757 Metapneumovirus infections severity ISO RGD:1614930 D RGD:9068941 20210108 RGD PMID:25953917|REF_RGD_ID:40903044 8923231 Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1349900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8923231 Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1349900 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8923231 Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1349900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8923231 Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8923231 Mfng MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1349900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tryptophan 5-monooxygenase deficiency PMID:15167691|PMID:16378243|PMID:17905754|PMID:18181017|PMID:18339632|PMID:18347598|PMID:18444257|PMID:19319927|PMID:19588223|PMID:22915309|PMID:25741868|PMID:28492532 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:12849 autistic disorder ISO RGD:736716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15768392 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:12849 autistic disorder ISO RGD:736716 D RGD:9068941 20200609 RGD DNA:SNPs:introns PMID:15768392|REF_RGD_ID:5686360 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:12849 autistic disorder no_association ISO RGD:736716 D RGD:9068941 20200609 RGD DNA:SNPs: :rs4341581, rs11179000 (human) PMID:16958027|REF_RGD_ID:5686361 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:1470 major depressive disorder ISO RGD:736716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Major depressive disorder PMID:17905754|PMID:18347598|PMID:19319927|PMID:25741868 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:1470 major depressive disorder susceptibility ISO RGD:736716 D RGD:7240710 20230505 OMIM 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:1595 melancholic depression ISO RGD:1332580 D RGD:9068941 20220825 MouseDO OMIM:608516 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:1596 depressive disorder ISO RGD:736716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17950541 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:3312 bipolar disorder ISO RGD:736716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bipolar affective disorder, susceptibility to PMID:17905754|PMID:18347598|PMID:19319927|PMID:25741868 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:594 panic disorder susceptibility ISO RGD:736716 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1386494) (human) PMID:17123728|REF_RGD_ID:5686356 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:630 genetic disease ISO RGD:736716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:6432 pulmonary hypertension severity ISO RGD:1332580 D RGD:9068941 20200609 RGD DNA:SNP: :1473C>G (mouse) PMID:17675372|REF_RGD_ID:5686352 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:9000972 Fever ISO RGD:736716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20722968 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:9002656 Attention Deficit-Hyperactivity Disorder 7 ISO RGD:736716 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Attention deficit-hyperactivity disorder, susceptibility to, 7 PMID:19319927|PMID:25741868 8923251 Tph2 tryptophan hydroxylase 2 gene DOID:9002656 Attention Deficit-Hyperactivity Disorder 7 susceptibility ISO RGD:736716 D RGD:7240710 20220720 OMIM 8923267 LOC102005563 chromosome unknown open reading frame, human C5orf52 gene DOID:630 genetic disease ISO RGD:2303474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923275 Vsnl1 visinin like 1 gene DOID:10652 Alzheimer's disease ISO RGD:737420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25806004 8923275 Vsnl1 visinin like 1 gene DOID:630 genetic disease ISO RGD:737420 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923284 Kif3c kinesin family member 3C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8923284 Kif3c kinesin family member 3C gene DOID:0060224 atrial fibrillation ISO RGD:731540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8923284 Kif3c kinesin family member 3C gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:731540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8923284 Kif3c kinesin family member 3C gene DOID:630 genetic disease ISO RGD:731540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923305 Lrrc49 leucine rich repeat containing 49 gene DOID:2717 Bloom syndrome ISO RGD:1606554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8923305 Lrrc49 leucine rich repeat containing 49 gene DOID:630 genetic disease ISO RGD:1606554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923305 Lrrc49 leucine rich repeat containing 49 gene DOID:9256 colorectal cancer ISO RGD:1606554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8923336 Spry1 sprouty RTK signaling antagonist 1 gene DOID:630 genetic disease ISO RGD:1319561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11983899 8923336 Spry1 sprouty RTK signaling antagonist 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:1309293 D RGD:9068941 20210129 RGD mRNA, protein:decreased expression:peritoneal fluid,tissue PMID:30515805|REF_RGD_ID:40925948 8923336 Spry1 sprouty RTK signaling antagonist 1 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1319561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8923336 Spry1 sprouty RTK signaling antagonist 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8923345 Cfap126 cilia and flagella associated protein 126 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1604188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 8923345 Cfap126 cilia and flagella associated protein 126 gene DOID:0050771 pheochromocytoma ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pheochromocytoma 8923345 Cfap126 cilia and flagella associated protein 126 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8923345 Cfap126 cilia and flagella associated protein 126 gene DOID:1540 parathyroid carcinoma ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8923345 Cfap126 cilia and flagella associated protein 126 gene DOID:630 genetic disease ISO RGD:1604188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923345 Cfap126 cilia and flagella associated protein 126 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8923359 Ano2 anoctamin 2 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1352763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8923359 Ano2 anoctamin 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1352763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8923359 Ano2 anoctamin 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8923388 Zmat5 zinc finger matrin-type 5 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1607019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8923388 Zmat5 zinc finger matrin-type 5 gene DOID:630 genetic disease ISO RGD:1607019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923388 Zmat5 zinc finger matrin-type 5 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1607019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 8923401 Rps27a ribosomal protein S27a gene DOID:630 genetic disease ISO RGD:736388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923401 Rps27a ribosomal protein S27a gene DOID:9000998 Brain Injuries ISO RGD:6489478 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex, hippocampus PMID:17936732|REF_RGD_ID:11041870 8923411 Mapkbp1 mitogen-activated protein kinase binding protein 1 gene DOID:0111127 nephronophthisis 20 ISO RGD:1604640 D RGD:7240710 20190315 OMIM 8923411 Mapkbp1 mitogen-activated protein kinase binding protein 1 gene DOID:0111127 nephronophthisis 20 ISO RGD:1604640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 20 PMID:25741868|PMID:28089251|PMID:28492532|PMID:32055034 8923411 Mapkbp1 mitogen-activated protein kinase binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1604640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8923411 Mapkbp1 mitogen-activated protein kinase binding protein 1 gene DOID:630 genetic disease ISO RGD:1604640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8923411 Mapkbp1 mitogen-activated protein kinase binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1604640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8923470 Gpr151 G protein-coupled receptor 151 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350857 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8923470 Gpr151 G protein-coupled receptor 151 gene DOID:4990 essential tremor ISO RGD:1350857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:28492532|PMID:33279834 8923470 Gpr151 G protein-coupled receptor 151 gene DOID:630 genetic disease ISO RGD:1350857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923470 Gpr151 G protein-coupled receptor 151 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8923470 Gpr151 G protein-coupled receptor 151 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350857 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8923475 Eef1g eukaryotic translation elongation factor 1 gamma gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8923475 Eef1g eukaryotic translation elongation factor 1 gamma gene DOID:1059 intellectual disability ISO RGD:1349957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8923475 Eef1g eukaryotic translation elongation factor 1 gamma gene DOID:630 genetic disease ISO RGD:1349957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:1349944 D RGD:9068941 20220526 RGD PMID:21176871|REF_RGD_ID:152600900 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:1612 breast cancer susceptibility ISO RGD:1349944 D RGD:9068941 20220526 RGD DNA:SNP: :rs989902(human) PMID:24338422|REF_RGD_ID:152599188 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:219 colon cancer treatment ISO RGD:1349944 D RGD:9068941 20220527 RGD PMID:29899829|REF_RGD_ID:152975627 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:224 transient cerebral ischemia ISO RGD:1563360 D RGD:9068941 20220527 RGD mRNA,protein:increased expression:cerebral cortex: PMID:18096138|REF_RGD_ID:4142863 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3717 gastric adenocarcinoma ISO RGD:1349944 D RGD:9068941 20220526 RGD protein:increased expression:stomach PMID:10660140|REF_RGD_ID:152599189 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1349944 D RGD:9068941 20220527 RGD PMID:32536826|REF_RGD_ID:152975628 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1349944 D RGD:9068941 20220512 RGD mRNA,protein:decreased expression:lung PMID:22245727|REF_RGD_ID:152176663 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3907 lung squamous cell carcinoma severity ISO RGD:1349944 D RGD:9068941 20220512 RGD PMID:23906871|REF_RGD_ID:152176664 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) PMID:19672627|REF_RGD_ID:152176665 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3910 lung adenocarcinoma ISO RGD:1349944 D RGD:9068941 20220512 RGD mRNA,protein:decreased expression:lung PMID:22245727|REF_RGD_ID:152176663 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1349944 D RGD:9068941 20220527 RGD PMID:33536603|REF_RGD_ID:152975626 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) PMID:19672627|REF_RGD_ID:152176665 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:4556 lung large cell carcinoma ISO RGD:1349944 D RGD:9068941 20220512 RGD mRNA,protein:decreased expression:lung PMID:22245727|REF_RGD_ID:152176663 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:SNPs:cds:c.4566 A>G(I1522M)(rs2230600), c.6241 T>G (Y2081D)(rs989902)(human) PMID:19892796|REF_RGD_ID:152176661 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) PMID:19672627|REF_RGD_ID:152176665 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:630 genetic disease ISO RGD:1349944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1349944 D RGD:9068941 20220526 RGD PMID:26801674|REF_RGD_ID:152176666 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1349944 D RGD:9068941 20220526 RGD DNA:SNP: :p.Y2081D(human) PMID:16489062|REF_RGD_ID:152599190 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1349944 D RGD:9068941 20220512 RGD associated with lung squamous cell carcinoma; protein:decreased expression:lymph node PMID:23906871|REF_RGD_ID:152176664 8923499 Ptpn13 protein tyrosine phosphatase non-receptor type 13 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1349944 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) PMID:19672627|REF_RGD_ID:152176665 8923561 Slc24a3 solute carrier family 24 member 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8923561 Slc24a3 solute carrier family 24 member 3 gene DOID:630 genetic disease ISO RGD:735914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923561 Slc24a3 solute carrier family 24 member 3 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:735914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8923585 Snx14 sorting nexin 14 gene DOID:0050753 cerebellar ataxia ISO RGD:1322101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 8923585 Snx14 sorting nexin 14 gene DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ISO RGD:1322101 D RGD:7240710 20180130 OMIM 8923585 Snx14 sorting nexin 14 gene DOID:0080066 autosomal recessive spinocerebellar ataxia 20 ISO RGD:1322101 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 | ClinVar Annotator: match by term: SNX14-related condition PMID:24501761|PMID:25439728|PMID:25741868|PMID:25848753|PMID:27913285|PMID:28492532|PMID:34691693 8923585 Snx14 sorting nexin 14 gene DOID:1059 intellectual disability ISO RGD:1322101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25848753 8923585 Snx14 sorting nexin 14 gene DOID:1826 epilepsy ISO RGD:1322101 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:32581362 8923585 Snx14 sorting nexin 14 gene DOID:630 genetic disease ISO RGD:1322101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8923585 Snx14 sorting nexin 14 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1322101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8923585 Snx14 sorting nexin 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532 8923625 Tmem147 transmembrane protein 147 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1607077 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8923625 Tmem147 transmembrane protein 147 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1607077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8923625 Tmem147 transmembrane protein 147 gene DOID:1059 intellectual disability ISO RGD:1607077 D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:36044892 8923625 Tmem147 transmembrane protein 147 gene DOID:543 dystonia ISO RGD:1607077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8923625 Tmem147 transmembrane protein 147 gene DOID:630 genetic disease ISO RGD:1607077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923625 Tmem147 transmembrane protein 147 gene DOID:9007224 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly ISO RGD:1607077 D RGD:7240710 20221102 OMIM 8923625 Tmem147 transmembrane protein 147 gene DOID:9007224 Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly ISO RGD:1607077 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition PMID:25741868|PMID:28492532|PMID:36044892 8923645 Dio3 iodothyronine deiodinase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:68623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 8923645 Dio3 iodothyronine deiodinase 3 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:68623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 8923645 Dio3 iodothyronine deiodinase 3 gene DOID:6000 congestive heart failure ISO RGD:68420 D RGD:9068941 20200609 RGD associated with Hypertrophy, Right Ventricular;mRNA, protein:increased expression:heart right ventricle PMID:18259611|REF_RGD_ID:2303417 8923645 Dio3 iodothyronine deiodinase 3 gene DOID:630 genetic disease ISO RGD:68623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923645 Dio3 iodothyronine deiodinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26825960 8923645 Dio3 iodothyronine deiodinase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:68623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 8923650 Mucl3 mucin like 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8923650 Mucl3 mucin like 3 gene DOID:11372 megacolon ISO RGD:1346376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8923650 Mucl3 mucin like 3 gene DOID:630 genetic disease ISO RGD:1346376 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923650 Mucl3 mucin like 3 gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:1346376 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:22152429 8923664 Ypel3 yippee like 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1347620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 8923664 Ypel3 yippee like 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8923664 Ypel3 yippee like 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1347620 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8923664 Ypel3 yippee like 3 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1347620 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8923664 Ypel3 yippee like 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1347620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8923664 Ypel3 yippee like 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1347620 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8923664 Ypel3 yippee like 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1347620 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8923664 Ypel3 yippee like 3 gene DOID:12849 autistic disorder ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8923664 Ypel3 yippee like 3 gene DOID:5419 schizophrenia ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8923664 Ypel3 yippee like 3 gene DOID:630 genetic disease ISO RGD:1347620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923664 Ypel3 yippee like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8923664 Ypel3 yippee like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8923664 Ypel3 yippee like 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1347620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8923676 Dmgdh dimethylglycine dehydrogenase gene DOID:630 genetic disease ISO RGD:731431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923676 Dmgdh dimethylglycine dehydrogenase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731431 D RGD:9068941 20220616 RGD associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) PMID:30901224|REF_RGD_ID:152995286 8923676 Dmgdh dimethylglycine dehydrogenase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8923676 Dmgdh dimethylglycine dehydrogenase gene DOID:9005574 Dimethylglycine Dehydrogenase Deficiency ISO RGD:731431 D RGD:7240710 20180130 OMIM 8923676 Dmgdh dimethylglycine dehydrogenase gene DOID:9005574 Dimethylglycine Dehydrogenase Deficiency ISO RGD:731431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dimethylglycine dehydrogenase deficiency PMID:10102904|PMID:10767172|PMID:11231903|PMID:25741868|PMID:28492532 8923705 Pla2r1 phospholipase A2 receptor 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350138 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868 8923705 Pla2r1 phospholipase A2 receptor 1 gene DOID:12849 autistic disorder ISO RGD:1350138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 8923705 Pla2r1 phospholipase A2 receptor 1 gene DOID:303 substance-related disorder ISO RGD:1350138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8923705 Pla2r1 phospholipase A2 receptor 1 gene DOID:557 kidney disease ISO RGD:1350138 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868 8923705 Pla2r1 phospholipase A2 receptor 1 gene DOID:630 genetic disease ISO RGD:1350138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8923775 Slc10a6 solute carrier family 10 member 6 gene DOID:630 genetic disease ISO RGD:1604951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923775 Slc10a6 solute carrier family 10 member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1604951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30186172 8923785 Kif5b kinesin family member 5B gene DOID:1059 intellectual disability ISO RGD:1344841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8923785 Kif5b kinesin family member 5B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21757253 8923785 Kif5b kinesin family member 5B gene DOID:630 genetic disease ISO RGD:1344841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923785 Kif5b kinesin family member 5B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621559 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:23776493|REF_RGD_ID:11059542 8923785 Kif5b kinesin family member 5B gene DOID:9008086 Developmental Disabilities ISO RGD:1344841 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8923785 Kif5b kinesin family member 5B gene DOID:9351 diabetes mellitus ISO RGD:1344841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23776493 8923833 Ackr1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8923833 Ackr1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:12365 malaria ISO RGD:1347611 D RGD:7240710 20230505 OMIM 8923833 Ackr1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:12365 malaria ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plasmodium vivax, resistance to PMID:10570183|PMID:10791881|PMID:17304246|PMID:18179887|PMID:18621010|PMID:19180233|PMID:19620399|PMID:20932074|PMID:7663520|PMID:8547665|PMID:8651934 8923833 Ackr1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:12978 Plasmodium vivax malaria ISO RGD:1347611 D RGD:7240710 20200527 OMIM 8923833 Ackr1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:12978 Plasmodium vivax malaria ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Resistance to Plasmodium vivax infection PMID:10570183|PMID:10791881|PMID:17304246|PMID:18179887|PMID:18621010|PMID:19180233|PMID:19620399|PMID:20932074|PMID:7663520|PMID:8547665|PMID:8651934 8923833 Ackr1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:1540 parathyroid carcinoma ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8923833 Ackr1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:630 genetic disease ISO RGD:1347611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923833 Ackr1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:9005605 Arteriovenous Fistula ISO RGD:1596198 D RGD:9068941 20200609 RGD PMID:24429330|REF_RGD_ID:9681736 8923833 Ackr1 atypical chemokine receptor 1 (Duffy blood group) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8923840 Pklr pyruvate kinase L/R gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8923840 Pklr pyruvate kinase L/R gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:3336 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8923840 Pklr pyruvate kinase L/R gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:737364 D RGD:7240710 20180130 OMIM 8923840 Pklr pyruvate kinase L/R gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:737364 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PKLR-related condition | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells PMID:10354117|PMID:10828047|PMID:11054094|PMID:11328279|PMID:11698298|PMID:11960989|PMID:12393511|PMID:14014643|PMID:14255553|PMID:1536957|PMID:15491302|PMID:15953013|PMID:15982340|PMID:16704447|PMID:1670447|PMID:17360088|PMID:17574881|PMID:17576681|PMID:18172691|PMID:18420493|PMID:18683378|PMID:18759866|PMID:1896471|PMID:19085939|PMID:1937486|PMID:19758413|PMID:2018831|PMID:21794208|PMID:21815188|PMID:21833022|PMID:23082140|PMID:24033266|PMID:25741868|PMID:26087744|PMID:26459649|PMID:26658699|PMID:26728349|PMID:26832193|PMID:27346685|PMID:27354418|PMID:27432187|PMID:27871768|PMID:28133914|PMID:28492532|PMID:28810336|PMID:29396846|PMID:29519373|PMID:30332465|PMID:31625567|PMID:31747117|PMID:31974203|PMID:32043619|PMID:32974842|PMID:33631127|PMID:34008892|PMID:34662886|PMID:36892591|PMID:7655861|PMID:7702630|PMID:7706479|PMID:7919353|PMID:7948315|PMID:8161798|PMID:8180378|PMID:8481523|PMID:8483951|PMID:9057665|PMID:9160692|PMID:9166866|PMID:9389718|PMID:9482576|PMID:9536098|PMID:9657767|PMID:9827908|PMID:9886305 8923840 Pklr pyruvate kinase L/R gene DOID:0111940 immunodeficiency 42 ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8923840 Pklr pyruvate kinase L/R gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8923840 Pklr pyruvate kinase L/R gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8923840 Pklr pyruvate kinase L/R gene DOID:12365 malaria ISO RGD:11113 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 8923840 Pklr pyruvate kinase L/R gene DOID:12365 malaria susceptibility ISO RGD:11113 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I90N (mouse) PMID:14595440|REF_RGD_ID:11537407 8923840 Pklr pyruvate kinase L/R gene DOID:12365 malaria susceptibility ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:mutations, haplotype:multiple (human) PMID:20377593|REF_RGD_ID:11535999 8923840 Pklr pyruvate kinase L/R gene DOID:1540 parathyroid carcinoma ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8923840 Pklr pyruvate kinase L/R gene DOID:1926 Gaucher's disease ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:repeats:intron:IVS11+?(ATT)5 (human) PMID:9677056|REF_RGD_ID:11535995 8923840 Pklr pyruvate kinase L/R gene DOID:2018 hyperinsulinism ISO RGD:11113 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:14766002|REF_RGD_ID:1625581 8923840 Pklr pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R479H (human) PMID:8161798|REF_RGD_ID:11535983 8923840 Pklr pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A468V, p.I314T (human) PMID:7949104|REF_RGD_ID:11535979 8923840 Pklr pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.T384M, p.Q421K (human) PMID:1536957|REF_RGD_ID:11535981 8923840 Pklr pyruvate kinase L/R gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-72A>G (human) PMID:11054094|REF_RGD_ID:11535987 8923840 Pklr pyruvate kinase L/R gene DOID:4195 hyperglycemia ISO RGD:3336 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA, protein:increased expression:liver PMID:8605225|REF_RGD_ID:1625587 8923840 Pklr pyruvate kinase L/R gene DOID:5812 MHC class II deficiency ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8923840 Pklr pyruvate kinase L/R gene DOID:583 hemolytic anemia ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:28492532|PMID:32581362|PMID:9827908 8923840 Pklr pyruvate kinase L/R gene DOID:630 genetic disease ISO RGD:737364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8923840 Pklr pyruvate kinase L/R gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8923840 Pklr pyruvate kinase L/R gene DOID:9002812 Elevated Adenosine Triphosphate of Erythrocytes ISO RGD:737364 D RGD:7240710 20180130 OMIM 8923840 Pklr pyruvate kinase L/R gene DOID:9002812 Elevated Adenosine Triphosphate of Erythrocytes ISO RGD:737364 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pyruvate kinase hyperactivity PMID:10354117|PMID:10828047|PMID:11054094|PMID:11328279|PMID:11960989|PMID:15953013|PMID:15982340|PMID:16704447|PMID:17360088|PMID:17574881|PMID:18759866|PMID:24033266|PMID:25741868|PMID:26087744|PMID:26459649|PMID:26658699|PMID:26728349|PMID:26832193|PMID:27346685|PMID:27354418|PMID:27432187|PMID:27871768|PMID:28133914|PMID:28492532|PMID:29519373|PMID:30332465|PMID:31747117|PMID:32974842|PMID:4160306|PMID:7655861|PMID:7706479|PMID:7919353|PMID:7948315|PMID:8483951|PMID:8664896|PMID:9057665|PMID:9160692|PMID:9482576|PMID:9657767|PMID:9827908 8923840 Pklr pyruvate kinase L/R gene DOID:9004009 Reperfusion Injury ISO RGD:3336 D RGD:9068941 20200609 RGD PMID:17013507|REF_RGD_ID:1625588 8923840 Pklr pyruvate kinase L/R gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3336 D RGD:9068941 20200609 RGD PMID:16900249|REF_RGD_ID:1625589 8923840 Pklr pyruvate kinase L/R gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20363216 8923840 Pklr pyruvate kinase L/R gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:3336 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8923840 Pklr pyruvate kinase L/R gene DOID:9007692 Insulin Resistance ISO RGD:11113 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:12958186|REF_RGD_ID:1625583 8923840 Pklr pyruvate kinase L/R gene DOID:9007692 Insulin Resistance treatment ISO RGD:3336 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8923840 Pklr pyruvate kinase L/R gene DOID:9007730 Burns ISO RGD:3336 D RGD:9068941 20200609 RGD PMID:12417155|REF_RGD_ID:1625591 8923840 Pklr pyruvate kinase L/R gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8923840 Pklr pyruvate kinase L/R gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:SNP: :rs3020781(human) PMID:19111066|REF_RGD_ID:13506802 8923840 Pklr pyruvate kinase L/R gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737364 D RGD:9068941 20200609 RGD DNA:SNPs:introns,exons: PMID:12196482|REF_RGD_ID:13506801 8923840 Pklr pyruvate kinase L/R gene DOID:9970 obesity ISO RGD:11113 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:12958186|REF_RGD_ID:1625583 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:0050117 disease by infectious agent ISO RGD:1352885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182967 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1352885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:25741868|PMID:28492532|PMID:30046003 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:0080170 normophosphatemic familial tumoral calcinosis ISO RGD:1352885 D RGD:7240710 20180130 OMIM 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:0080170 normophosphatemic familial tumoral calcinosis ISO RGD:1352885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA | ClinVar Annotator: match by term: Normophosphatemic familial tumoral calcinosis PMID:16960814|PMID:18094730|PMID:25741868|PMID:28346228|PMID:28492532 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:5295 intestinal disease ISO RGD:1352885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182967 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:630 genetic disease ISO RGD:1352885 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16960814|PMID:18094730|PMID:24029230|PMID:25741868|PMID:27182967|PMID:28346228|PMID:28492532|PMID:29365320|PMID:29506479|PMID:30046003|PMID:31208161|PMID:31231135|PMID:31309983|PMID:31638924|PMID:33237688|PMID:34621053 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:9001488 Human Influenza ISO RGD:1352885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1352885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182967 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1352885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27182967 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:9003302 Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 ISO RGD:1352885 D RGD:7240710 20201223 OMIM 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:9003302 Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 ISO RGD:1352885 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2 PMID:2569483|PMID:25741868|PMID:28487541|PMID:28492532|PMID:29535429|PMID:30046003|PMID:30322869|PMID:33237688|PMID:34621053 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:9009218 MIRAGE Syndrome ISO RGD:1352885 D RGD:7240710 20190315 OMIM 8923859 Samd9 sterile alpha motif domain containing 9 gene DOID:9009218 MIRAGE Syndrome ISO RGD:1352885 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: MIRAGE syndrome | ClinVar Annotator: match by term: MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY PMID:16960814|PMID:18094730|PMID:24029230|PMID:25741868|PMID:27182967|PMID:28346228|PMID:28492532|PMID:29266745|PMID:29365320|PMID:29506479|PMID:30046003|PMID:31208161|PMID:31231135|PMID:31309983|PMID:31620126|PMID:31638924|PMID:31666768|PMID:32106287|PMID:33237688|PMID:34621053 8923870 Prlr prolactin receptor gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:11157 D RGD:9068941 20220825 MouseDO OMIM:155240 8923870 Prlr prolactin receptor gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 8923870 Prlr prolactin receptor gene DOID:12700 hyperprolactinemia ISO RGD:730871 D RGD:7240710 20180130 OMIM 8923870 Prlr prolactin receptor gene DOID:12700 hyperprolactinemia ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hyperprolactinemia PMID:25741868|PMID:30575453 8923870 Prlr prolactin receptor gene DOID:12849 autistic disorder ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18207134 8923870 Prlr prolactin receptor gene DOID:289 endometriosis ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8923870 Prlr prolactin receptor gene DOID:305 carcinoma ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:17173897 8923870 Prlr prolactin receptor gene DOID:5419 schizophrenia ISO RGD:730871 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8923870 Prlr prolactin receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8923870 Prlr prolactin receptor gene DOID:630 genetic disease ISO RGD:730871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923870 Prlr prolactin receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:17173897 8923870 Prlr prolactin receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8923870 Prlr prolactin receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8923870 Prlr prolactin receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8923870 Prlr prolactin receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3407 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 8923870 Prlr prolactin receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8923870 Prlr prolactin receptor gene DOID:9006829 Multiple Fibroadenomas of the Breast ISO RGD:730871 D RGD:7240710 20180130 OMIM 8923870 Prlr prolactin receptor gene DOID:9006829 Multiple Fibroadenomas of the Breast ISO RGD:730871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple fibroadenomas of the breast PMID:18779591 8923889 Babam2 BRISC and BRCA1 A complex member 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8923889 Babam2 BRISC and BRCA1 A complex member 2 gene DOID:10283 prostate cancer ISO RGD:1343026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8923889 Babam2 BRISC and BRCA1 A complex member 2 gene DOID:630 genetic disease ISO RGD:1343026 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923916 Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:0080600 COVID-19 ISO RGD:1352491 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8923916 Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:2717 Bloom syndrome ISO RGD:1352491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8923916 Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:630 genetic disease ISO RGD:1352491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8923916 Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:684 hepatocellular carcinoma ISO RGD:1558458 D RGD:9068941 20220825 MouseDO OMIM:114550 8923916 Uaca uveal autoantigen with coiled-coil domains and ankyrin repeats gene DOID:9256 colorectal cancer ISO RGD:1352491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8923953 Gins1 GINS complex subunit 1 gene DOID:0111993 immunodeficiency 55 ISO RGD:1605108 D RGD:7240710 20190315 OMIM 8923953 Gins1 GINS complex subunit 1 gene DOID:0111993 immunodeficiency 55 ISO RGD:1605108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to GINS1 deficiency PMID:25741868|PMID:28414293|PMID:28492532|PMID:31630891 8923953 Gins1 GINS complex subunit 1 gene DOID:630 genetic disease ISO RGD:1605108 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8923953 Gins1 GINS complex subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1605108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8923969 Atp2c2 ATPase secretory pathway Ca2+ transporting 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:732511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8923969 Atp2c2 ATPase secretory pathway Ca2+ transporting 2 gene DOID:630 genetic disease ISO RGD:732511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8924004 Ncs1 neuronal calcium sensor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:68618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8924004 Ncs1 neuronal calcium sensor 1 gene DOID:630 genetic disease ISO RGD:68618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924018 Chfr checkpoint with forkhead and ring finger domains gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20705357 8924018 Chfr checkpoint with forkhead and ring finger domains gene DOID:630 genetic disease ISO RGD:1314932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924018 Chfr checkpoint with forkhead and ring finger domains gene DOID:9000217 Stomach Neoplasms ISO RGD:1314932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8924018 Chfr checkpoint with forkhead and ring finger domains gene DOID:9007715 Endometrial Neoplasms ISO RGD:1314932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17143476 8924018 Chfr checkpoint with forkhead and ring finger domains gene DOID:9256 colorectal cancer ISO RGD:1314932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 8924044 Dcbld2 discoidin, CUB and LCCL domain containing 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1346250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8924044 Dcbld2 discoidin, CUB and LCCL domain containing 2 gene DOID:630 genetic disease ISO RGD:1346250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924044 Dcbld2 discoidin, CUB and LCCL domain containing 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1346250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18314483 8924097 Irak2 interleukin 1 receptor associated kinase 2 gene DOID:14175 von Hippel-Lindau disease ISO RGD:1319999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25741868 8924097 Irak2 interleukin 1 receptor associated kinase 2 gene DOID:630 genetic disease ISO RGD:1319999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924097 Irak2 interleukin 1 receptor associated kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8924097 Irak2 interleukin 1 receptor associated kinase 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1319999 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 8924097 Irak2 interleukin 1 receptor associated kinase 2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1319999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8924130 Tiprl TOR signaling pathway regulator gene DOID:0111942 immunodeficiency 25 ISO RGD:1605834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 8924130 Tiprl TOR signaling pathway regulator gene DOID:1540 parathyroid carcinoma ISO RGD:1605834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8924130 Tiprl TOR signaling pathway regulator gene DOID:630 genetic disease ISO RGD:1605834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924130 Tiprl TOR signaling pathway regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:736625 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X | ClinVar Annotator: match by term: Charcot-Marie-Tooth, X-linked PMID:17701900|PMID:20021999|PMID:20301731|PMID:20301734|PMID:24033266|PMID:24528855|PMID:24961627|PMID:25182139|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28967191|PMID:29986705|PMID:30177296|PMID:31906484|PMID:32528171|PMID:32781272|PMID:33493137|PMID:33532242|PMID:8702702|PMID:8968763 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0050647 Arts syndrome ISO RGD:736625 D RGD:7240710 20180130 OMIM 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0050647 Arts syndrome ISO RGD:736625 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision PMID:1664177|PMID:17701896|PMID:17701900|PMID:19161981|PMID:20301731|PMID:22246954|PMID:24033266|PMID:24528855|PMID:25741868|PMID:26089585|PMID:28492532|PMID:28967191|PMID:31906484|PMID:32781272|PMID:6243137|PMID:7593598|PMID:8253776|PMID:8498830 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:736625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:28492532 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 ISO RGD:736625 D RGD:7240710 20180130 OMIM 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 ISO RGD:736625 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy PMID:17701900|PMID:20301731|PMID:24033266|PMID:24285972|PMID:25182139|PMID:25491489|PMID:25741868|PMID:28492532|PMID:32781272|PMID:33493137 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity ISO RGD:736625 D RGD:7240710 20180130 OMIM 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity ISO RGD:736625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity PMID:1664177|PMID:171280|PMID:17701900|PMID:19161981|PMID:20301731|PMID:24033266|PMID:25741868|PMID:26089585|PMID:28492532|PMID:28967191|PMID:6243137|PMID:7593598|PMID:8253776 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111739 X-linked deafness 1 ISO RGD:736625 D RGD:7240710 20180130 OMIM 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:0111739 X-linked deafness 1 ISO RGD:736625 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1 PMID:10503584|PMID:15240907|PMID:17701900|PMID:20021999|PMID:20301731|PMID:24033266|PMID:24528855|PMID:25182139|PMID:25741868|PMID:28492532|PMID:8968763 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:736625 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S16P (human) PMID:25491489|REF_RGD_ID:11056008 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:12849 autistic disorder ISO RGD:736625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:13189 gout ISO RGD:736625 D RGD:9068941 20200609 RGD N113S, D182H PMID:8253776|REF_RGD_ID:1599725 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:630 genetic disease ISO RGD:736625 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1664177|PMID:19161981|PMID:24033266|PMID:25741868|PMID:26089585|PMID:26467025|PMID:28492532|PMID:6243137|PMID:8253776 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:8501 fundus dystrophy ISO RGD:736625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24961627|PMID:25741868|PMID:28492532|PMID:28967191|PMID:32781272 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9003814 Neurologic Manifestations ISO RGD:736625 D RGD:9068941 20200609 RGD associated with Gout; DNA:missense mutations:cds:multiple (human) PMID:7593598|REF_RGD_ID:5134990 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9004538 Hearing Loss ISO RGD:736625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked nonsyndromic hearing loss 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9004657 Weight Gain ISO RGD:736625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8924153 Prps1 phosphoribosyl pyrophosphate synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736625 D RGD:9068941 20200609 RGD N113S, D182H PMID:8253776|REF_RGD_ID:1599725 8924180 Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1322106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8924180 Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:12849 autistic disorder ISO RGD:1322106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8924180 Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1322106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8924180 Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:630 genetic disease ISO RGD:1322106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924180 Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1322106 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8924180 Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8924222 Tdrd7 tudor domain containing 7 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8924222 Tdrd7 tudor domain containing 7 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8924222 Tdrd7 tudor domain containing 7 gene DOID:0110247 cataract 36 ISO RGD:1350621 D RGD:7240710 20180130 OMIM 8924222 Tdrd7 tudor domain containing 7 gene DOID:0110247 cataract 36 ISO RGD:1350621 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cataract 36 PMID:25741868|PMID:28418495|PMID:28492532 8924222 Tdrd7 tudor domain containing 7 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8924222 Tdrd7 tudor domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8924222 Tdrd7 tudor domain containing 7 gene DOID:12336 male infertility ISO RGD:1350621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21436445 8924222 Tdrd7 tudor domain containing 7 gene DOID:12712 nephronophthisis ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8924222 Tdrd7 tudor domain containing 7 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350621 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8924222 Tdrd7 tudor domain containing 7 gene DOID:1686 glaucoma ISO RGD:1350621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21436445 8924222 Tdrd7 tudor domain containing 7 gene DOID:630 genetic disease ISO RGD:1350621 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8924222 Tdrd7 tudor domain containing 7 gene DOID:83 cataract ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 8924222 Tdrd7 tudor domain containing 7 gene DOID:9001488 Human Influenza ISO RGD:1350621 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8924222 Tdrd7 tudor domain containing 7 gene DOID:9001793 Generalized Epilepsy ISO RGD:1350621 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8924243 P4hb prolyl 4-hydroxylase subunit beta gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 8924243 P4hb prolyl 4-hydroxylase subunit beta gene DOID:0060438 Cole-Carpenter syndrome ISO RGD:733481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome PMID:25741868 8924243 P4hb prolyl 4-hydroxylase subunit beta gene DOID:11476 osteoporosis ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8924243 P4hb prolyl 4-hydroxylase subunit beta gene DOID:630 genetic disease ISO RGD:733481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8924243 P4hb prolyl 4-hydroxylase subunit beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8924243 P4hb prolyl 4-hydroxylase subunit beta gene DOID:9007102 Myocardial Ischemia ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8924243 P4hb prolyl 4-hydroxylase subunit beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8924243 P4hb prolyl 4-hydroxylase subunit beta gene DOID:9009043 Cole-Carpenter Syndrome 1 ISO RGD:733481 D RGD:7240710 20180130 OMIM 8924243 P4hb prolyl 4-hydroxylase subunit beta gene DOID:9009043 Cole-Carpenter Syndrome 1 ISO RGD:733481 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 PMID:25683117|PMID:25741868|PMID:28492532 8924258 Rab9a RAB9A, member RAS oncogene family gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350613 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 8924258 Rab9a RAB9A, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1350613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8924258 Rab9a RAB9A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924258 Rab9a RAB9A, member RAS oncogene family gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8924276 Cfap210 cilia and flagella associated protein 210 gene DOID:630 genetic disease ISO RGD:2298833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924289 Ppp1r17 protein phosphatase 1 regulatory subunit 17 gene DOID:13810 familial hypercholesterolemia ISO RGD:1344493 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 8924289 Ppp1r17 protein phosphatase 1 regulatory subunit 17 gene DOID:13810 familial hypercholesterolemia susceptibility ISO RGD:1344493 D RGD:7240710 20230505 OMIM 8924289 Ppp1r17 protein phosphatase 1 regulatory subunit 17 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8924289 Ppp1r17 protein phosphatase 1 regulatory subunit 17 gene DOID:630 genetic disease ISO RGD:1344493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924289 Ppp1r17 protein phosphatase 1 regulatory subunit 17 gene DOID:9000808 Hypercholesterolemia ISO RGD:1344493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to PMID:12955585 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:0060041 autism spectrum disorder ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1323140 D RGD:7240710 20190315 OMIM 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1323140 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related condition | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106|PMID:25741868|PMID:27399968|PMID:28492532|PMID:30267900|PMID:35144002 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:1059 intellectual disability ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:10907 microcephaly ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:10908 hydrocephalus ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:12849 autistic disorder ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:12858 Huntington's disease ISO RGD:1323140 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:10441327|REF_RGD_ID:5688338 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:1826 epilepsy ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:224 transient cerebral ischemia ISO RGD:1311598 D RGD:9068941 20200609 RGD PMID:24063527|REF_RGD_ID:9495912 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:2717 Bloom syndrome ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:5419 schizophrenia ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:630 genetic disease ISO RGD:1323140 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:35144002 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:9002211 Hyperalgesia ISO RGD:1311598 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental;mRNA:decreased expression:spinal cord, neuron PMID:17553988|REF_RGD_ID:9495916 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:9002231 Fetal Growth Retardation ISO RGD:1311598 D RGD:9068941 20200609 RGD PMID:18464933|REF_RGD_ID:2311214 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:9007661 Dwarfism ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27399968 8924299 Sin3a SIN3 transcription regulator family member A gene DOID:9256 colorectal cancer ISO RGD:1323140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8924326 Znf526 zinc finger protein 526 gene DOID:0050888 syndromic intellectual disability ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 8924326 Znf526 zinc finger protein 526 gene DOID:1059 intellectual disability ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8924326 Znf526 zinc finger protein 526 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8924326 Znf526 zinc finger protein 526 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8924326 Znf526 zinc finger protein 526 gene DOID:2340 craniosynostosis ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:26097063|PMID:28492532|PMID:28808027 8924326 Znf526 zinc finger protein 526 gene DOID:5419 schizophrenia ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8924326 Znf526 zinc finger protein 526 gene DOID:630 genetic disease ISO RGD:1602838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8924326 Znf526 zinc finger protein 526 gene DOID:6420 pulmonary valve stenosis ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25558065|PMID:25741868 8924326 Znf526 zinc finger protein 526 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8924326 Znf526 zinc finger protein 526 gene DOID:9002634 DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME ISO RGD:1602838 D RGD:7240710 20220615 OMIM 8924326 Znf526 zinc finger protein 526 gene DOID:9002634 DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME ISO RGD:1602838 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dentici-Novelli neurodevelopmental syndrome PMID:25558065|PMID:25741868|PMID:33397746 8924326 Znf526 zinc finger protein 526 gene DOID:9003816 Macrocephaly ISO RGD:1602838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 8924326 Znf526 zinc finger protein 526 gene DOID:9269 maple syrup urine disease ISO RGD:1602838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8924337 Klhl1 kelch like family member 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1316652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8924337 Klhl1 kelch like family member 1 gene DOID:630 genetic disease ISO RGD:1316652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924352 Zbtb11 zinc finger and BTB domain containing 11 gene DOID:0081230 autosomal recessive intellectual developmental disorder 69 ISO RGD:1317955 D RGD:7240710 20190424 OMIM 8924352 Zbtb11 zinc finger and BTB domain containing 11 gene DOID:0081230 autosomal recessive intellectual developmental disorder 69 ISO RGD:1317955 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 PMID:25741868|PMID:29893856|PMID:35104841|PMID:7586637 8924352 Zbtb11 zinc finger and BTB domain containing 11 gene DOID:630 genetic disease ISO RGD:1317955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924352 Zbtb11 zinc finger and BTB domain containing 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8924367 Elavl2 ELAV like RNA binding protein 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1314763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8924367 Elavl2 ELAV like RNA binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1314763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8924367 Elavl2 ELAV like RNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1314763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924367 Elavl2 ELAV like RNA binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1314763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8924399 Boc BOC cell adhesion associated, oncogene regulated gene DOID:4621 holoprosencephaly ISO RGD:1605311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28677295 8924399 Boc BOC cell adhesion associated, oncogene regulated gene DOID:630 genetic disease ISO RGD:1605311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924399 Boc BOC cell adhesion associated, oncogene regulated gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8924399 Boc BOC cell adhesion associated, oncogene regulated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 8924440 Tp53 tumor protein p53 gene DOID:0001816 angiosarcoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930038|PMID:13678655|PMID:20737008 8924440 Tp53 tumor protein p53 gene DOID:0001816 angiosarcoma ISO RGD:11440 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:26440310|REF_RGD_ID:151665099 8924440 Tp53 tumor protein p53 gene DOID:0001816 angiosarcoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10626228 8924440 Tp53 tumor protein p53 gene DOID:0002116 pterygium ISO RGD:70502 D RGD:9068941 20200609 RGD protein:altered expression:pterygia: PMID:19065760|REF_RGD_ID:8547760 8924440 Tp53 tumor protein p53 gene DOID:0050638 transthyretin amyloidosis ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:10432928|PMID:10589545|PMID:10922393|PMID:12826609|PMID:15037740|PMID:15977174|PMID:17015838|PMID:18307025|PMID:19101993|PMID:20128691|PMID:20407015|PMID:20805372|PMID:21343334|PMID:21356188|PMID:21761402|PMID:22923379|PMID:23630318|PMID:24381225|PMID:24487413|PMID:24641375|PMID:24702488|PMID:25741868|PMID:26467025|PMID:26619011|PMID:27714481|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30816478|PMID:8118819|PMID:9242456|PMID:9662334 8924440 Tp53 tumor protein p53 gene DOID:0050685 small cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290066 8924440 Tp53 tumor protein p53 gene DOID:0050700 cardiomyopathy ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16013437 8924440 Tp53 tumor protein p53 gene DOID:0050700 cardiomyopathy ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31618665 8924440 Tp53 tumor protein p53 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:70502 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:10089074|PMID:10414702|PMID:11051239|PMID:11782540|PMID:12826609|PMID:14743206|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:17881637|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:22955915|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28985567|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31127191|PMID:31775759|PMID:32187361|PMID:36988593|PMID:8062826|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9150393|PMID:9242456|PMID:9598730|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:0050834 CHARGE syndrome ISO RGD:11440 D RGD:9068941 20220825 MouseDO OMIM:214800 8924440 Tp53 tumor protein p53 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 8924440 Tp53 tumor protein p53 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:20385474|REF_RGD_ID:8547851 8924440 Tp53 tumor protein p53 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:11440 D RGD:9068941 20220826 RGD protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 8924440 Tp53 tumor protein p53 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:27283772|REF_RGD_ID:14995497 8924440 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:2826609|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28915717|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15381368|PMID:15390294|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31119730|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:10089074|PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17881637|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19454241|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22955915|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32906206|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:36988593|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10089074|PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17881637|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19454241|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22955915|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32906206|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:36988593|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:0050902 medulloblastoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:11451203|REF_RGD_ID:8547823 8924440 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:10089074|PMID:10411893|PMID:10797439|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12826609|PMID:1359493|PMID:14743206|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15825182|PMID:1631137|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17417627|PMID:17427234|PMID:17606709|PMID:17881637|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:22919068|PMID:22955915|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23538418|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24810334|PMID:25157968|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31127191|PMID:31775759|PMID:32000721|PMID:32187361|PMID:32906206|PMID:33372952|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8425176|PMID:8527048|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:25412846|REF_RGD_ID:11057925 8924440 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:24836762|REF_RGD_ID:11073714 8924440 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:SNP:cds: p.R72P(rs1042522)(human) PMID:22668018|REF_RGD_ID:11073731 8924440 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:24043769|REF_RGD_ID:11073729 8924440 Tp53 tumor protein p53 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:25573287|REF_RGD_ID:11075071 8924440 Tp53 tumor protein p53 gene DOID:0060058 lymphoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:32906206|PMID:33372952|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9569050|PMID:9704930 8924440 Tp53 tumor protein p53 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant lymphoma, non-Hodgkin | ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:10629033|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:11896595|PMID:11920959|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15958617|PMID:15982667|PMID:16007150|PMID:16206219|PMID:1631137|PMID:16312222|PMID:16818505|PMID:16861262|PMID:17015838|PMID:17606709|PMID:17724467|PMID:18453682|PMID:18555592|PMID:19012332|PMID:19171880|PMID:19468865|PMID:19556618|PMID:19913028|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20972454|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21674059|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:24573247|PMID:24857548|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26230955|PMID:26467025|PMID:2654466|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27077130|PMID:27189670|PMID:27276561|PMID:27463065|PMID:27616075|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28802053|PMID:28975465|PMID:29058119|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29581140|PMID:29955864|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30709381|PMID:30730202|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32191290|PMID:32318955|PMID:32475984|PMID:32817165|PMID:33087929|PMID:33407742|PMID:36219266|PMID:8023157|PMID:8401536|PMID:8402598|PMID:8425176|PMID:8633021|PMID:8718514|PMID:8829627|PMID:960674 8924440 Tp53 tumor protein p53 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8924440 Tp53 tumor protein p53 gene DOID:0060071 pre-malignant neoplasm ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 8924440 Tp53 tumor protein p53 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:28573231|REF_RGD_ID:14995494 8924440 Tp53 tumor protein p53 gene DOID:0060074 ductal carcinoma in situ ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ductal carcinoma in situ PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:32906206|PMID:33372952|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9569050|PMID:9704930 8924440 Tp53 tumor protein p53 gene DOID:0070004 myeloid neoplasm ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29370077 8924440 Tp53 tumor protein p53 gene DOID:0070019 autosomal recessive dyskeratosis congenita 3 ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 PMID:17683073|PMID:24033266|PMID:25741868|PMID:28492532 8924440 Tp53 tumor protein p53 gene DOID:0080006 bone development disease ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9493073 8924440 Tp53 tumor protein p53 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8924440 Tp53 tumor protein p53 gene DOID:0080199 colorectal carcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation::p.R72P (human) PMID:29560751|REF_RGD_ID:14995498 8924440 Tp53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:10713666|PMID:11479205|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12826609|PMID:16494995|PMID:16736287|PMID:1673792|PMID:16861262|PMID:1686725|PMID:17541742|PMID:17606709|PMID:18208484|PMID:19468865|PMID:20128691|PMID:20522432|PMID:21343334|PMID:21626334|PMID:23259501|PMID:23625637|PMID:24033266|PMID:24384472|PMID:24728327|PMID:25503501|PMID:25584008|PMID:25741868|PMID:26270727|PMID:26467025|PMID:26619011|PMID:27489289|PMID:28369373|PMID:28492532|PMID:28861920|PMID:29324801|PMID:29489754|PMID:29979965|PMID:30224644|PMID:30299350|PMID:30720243|PMID:31775759|PMID:7707106|PMID:7881428|PMID:8080050|PMID:8364550|PMID:8869100 8924440 Tp53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:10713666|PMID:10871862|PMID:11479205|PMID:11782540|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12826609|PMID:14559903|PMID:16322298|PMID:16494995|PMID:16736287|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17541742|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18818522|PMID:19468865|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20522432|PMID:21343334|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21761402|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23625637|PMID:24033266|PMID:24384472|PMID:24728327|PMID:25503501|PMID:25584008|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26585234|PMID:26619011|PMID:27276561|PMID:27463065|PMID:27489289|PMID:27533082|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28492532|PMID:28861920|PMID:29070607|PMID:29076966|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30224644|PMID:30299350|PMID:30327374|PMID:30630526|PMID:30720243|PMID:30840781|PMID:31119730|PMID:31775759|PMID:32019277|PMID:33332384|PMID:33372952|PMID:34805717|PMID:6736287|PMID:7707106|PMID:7881428|PMID:7885831|PMID:8080050|PMID:8364550|PMID:8869100 8924440 Tp53 tumor protein p53 gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:16249115|REF_RGD_ID:8547828 8924440 Tp53 tumor protein p53 gene DOID:0080522 thyroid gland anaplastic carcinoma ISO RGD:70502 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Thyroid gland undifferentiated (anaplastic) carcinoma PMID:10864200|PMID:12672316|PMID:12826609|PMID:14743206|PMID:15390294|PMID:15607980|PMID:1565144|PMID:15951970|PMID:1631137|PMID:16401470|PMID:16489069|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:19454241|PMID:20128691|PMID:20516128|PMID:20693561|PMID:21343334|PMID:21484931|PMID:21552135|PMID:21761402|PMID:22811390|PMID:22899716|PMID:23161690|PMID:24381225|PMID:24487413|PMID:24641375|PMID:24677579|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:26332594|PMID:26467025|PMID:26619011|PMID:26681312|PMID:27374712|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29489754|PMID:29979965|PMID:30224644|PMID:30816478|PMID:31882575|PMID:33372952|PMID:36988593|PMID:7732013|PMID:8423216|PMID:9242456|PMID:9399838|PMID:9569050 8924440 Tp53 tumor protein p53 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22699455|REF_RGD_ID:11075072 8924440 Tp53 tumor protein p53 gene DOID:0080777 lung sarcomatoid carcinoma ISO RGD:70502 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lung sarcomatoid carcinoma PMID:12826609|PMID:28492532|PMID:29979965|PMID:30224644|PMID:33251333 8924440 Tp53 tumor protein p53 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 8924440 Tp53 tumor protein p53 gene DOID:0081267 graft-versus-host disease ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:epithelium PMID:16393253|REF_RGD_ID:8547841 8924440 Tp53 tumor protein p53 gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:11370630|PMID:11782540|PMID:12826609|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15958617|PMID:16206219|PMID:1631137|PMID:16818505|PMID:17015838|PMID:17606709|PMID:19012332|PMID:19468865|PMID:20407015|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:24573247|PMID:24857548|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:26014290|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30709381|PMID:30816478|PMID:32000721|PMID:32475984|PMID:33407742|PMID:8401536|PMID:8402598|PMID:8425176|PMID:8718514|PMID:8829627 8924440 Tp53 tumor protein p53 gene DOID:0081292 traumatic brain injury treatment ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:27553877|REF_RGD_ID:14995939 8924440 Tp53 tumor protein p53 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 8924440 Tp53 tumor protein p53 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 8924440 Tp53 tumor protein p53 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:20369488|REF_RGD_ID:8547768 8924440 Tp53 tumor protein p53 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:70502 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8924440 Tp53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:7240710 20240131 OMIM 8924440 Tp53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:10064694|PMID:10089074|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10606817|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11254385|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12779080|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14743206|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15450421|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15784129|PMID:1581912|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15964795|PMID:15977174|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16206219|PMID:16209708|PMID:16229746|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16474844|PMID:16477330|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16543939|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17066464|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17903248|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:182969|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18414213|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:19012332|PMID:19046423|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19336573|PMID:1933902|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618 8924440 Tp53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:19558493|PMID:19681600|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19958544|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21118481|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22004116|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22356895|PMID:22373952|PMID:22455664|PMID:224644|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22551440|PMID:22551548|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22733133|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22822097|PMID:22829111|PMID:22866089|PMID:22869713|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22955915|PMID:22983585|PMID:23031740|PMID:23056559|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334666|PMID:23340422|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639312|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24218030|PMID:24219989|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24857548|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601 8924440 Tp53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25059482|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256166|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:253702|PMID:25404506|PMID:25422255|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25503501|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25773284|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26024390|PMID:26029016|PMID:26086041|PMID:26094658|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101868|PMID:27135926|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27328919|PMID:27341992|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27527004|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28202063|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28961279|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29058119|PMID:29059199|PMID:29069792|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29263802|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29805046|PMID:29844874|PMID:29875428|PMID:29922827|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30042151|PMID:30067863|PMID:30076369 8924440 Tp53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:30089713|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30851333|PMID:30883245|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31133068|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31320401|PMID:31321604|PMID:31365877|PMID:31422818|PMID:31462179|PMID:31472337|PMID:31494577|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31845386|PMID:31854063|PMID:31881331|PMID:31882575|PMID:31948886|PMID:31949278|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32095738|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32183364|PMID:32187361|PMID:32191290|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32427313|PMID:32475984|PMID:32504211|PMID:32555031|PMID:32566746|PMID:32592449|PMID:32601264|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32930885|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32997996|PMID:32998877|PMID:33047316|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34049842|PMID:34088725|PMID:34095982|PMID:34166060|PMID:34198491|PMID:34240179|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34390506|PMID:34423517|PMID:34452612|PMID:34503094|PMID:34529667|PMID:34539758|PMID:34540492|PMID:34607348|PMID:34654685|PMID:34675114|PMID:34676052|PMID:34709361|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34805717|PMID:34863587|PMID:34880421|PMID:34881245|PMID:34885220|PMID:34906512|PMID:34907344|PMID:35043155|PMID:35047863|PMID:35127508|PMID:35246108|PMID:35264596|PMID:35306447|PMID:35323354|PMID:35367578|PMID:35512711|PMID:35659507|PMID:35802772|PMID:35820297|PMID:35886069|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36964217|PMID:36980780|PMID:36988593|PMID:37067911|PMID:37149759|PMID:37562436|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8156519|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8242752|PMID:8276238|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9399838|PMID:9407971 8924440 Tp53 tumor protein p53 gene DOID:0111503 Li-Fraumeni syndrome 1 ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9764816|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:70502 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 8924440 Tp53 tumor protein p53 gene DOID:10283 prostate cancer ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:10864200|PMID:11222779|PMID:11315715|PMID:11420676|PMID:11429705|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12826609|PMID:12917626|PMID:1467311|PMID:15004724|PMID:1565144|PMID:16489069|PMID:16818505|PMID:16827139|PMID:17576681|PMID:17606709|PMID:17724467|PMID:18511570|PMID:18685109|PMID:19556618|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20693561|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21519010|PMID:21535297|PMID:21552135|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23265383|PMID:23612969|PMID:24033266|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24641375|PMID:24651015|PMID:24677579|PMID:25157968|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25945745|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:27276561|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27523101|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:28975465|PMID:29189820|PMID:29456621|PMID:29489754|PMID:29979965|PMID:30107858|PMID:30224644|PMID:30327374|PMID:31105275|PMID:31212162|PMID:31559875|PMID:32295079|PMID:33372952|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8164043|PMID:8479749|PMID:9047394|PMID:9242456|PMID:9446663|PMID:9536098|PMID:9569050|PMID:9681828 8924440 Tp53 tumor protein p53 gene DOID:10283 prostate cancer disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations:exon PMID:18225585|REF_RGD_ID:2290535 8924440 Tp53 tumor protein p53 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16682957|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17881637|PMID:18307025|PMID:18511570|PMID:18685109|PMID:18937320|PMID:19101993|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:21056685|PMID:21059199|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23484829|PMID:23538418|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:253702|PMID:25404506|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28160093|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31168460|PMID:31296311|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32126783|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32817165|PMID:32906206|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33818021|PMID:34026625|PMID:34240179|PMID:34308366|PMID:34793666|PMID:34994652|PMID:35033608|PMID:35127508|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7791795|PMID:7887414|PMID:8023157 8924440 Tp53 tumor protein p53 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8718514|PMID:8825920|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9704930|PMID:9825943|PMID:9839505 8924440 Tp53 tumor protein p53 gene DOID:10534 stomach cancer ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15121773|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16033918|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16750598|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17881637|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18628487|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19378321|PMID:19454241|PMID:19556618|PMID:19717094|PMID:1978757|PMID:19877175|PMID:19881536|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21118481|PMID:21187651|PMID:21192060|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21445348|PMID:21468523|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22455664|PMID:22551548|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23263379|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23630318|PMID:23667202|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24936644|PMID:25059482|PMID:25157968|PMID:25256166|PMID:25404506|PMID:25584008|PMID:25612911|PMID:25736369|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25945745|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681051|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27081505|PMID:27153395|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28864397|PMID:28873162|PMID:28961258|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29070607|PMID:29392648|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29922827|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30107858|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30596752|PMID:30607672|PMID:30816478|PMID:30982232|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31494577|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31978118|PMID:32000721|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32986223|PMID:33163847|PMID:33245408|PMID:33258288|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33603772|PMID:33637564|PMID:33840814|PMID:34049842|PMID:34095982|PMID:34240179|PMID:34529667|PMID:34709361|PMID:34885220|PMID:35367578|PMID:35974385|PMID:36003761|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826 8924440 Tp53 tumor protein p53 gene DOID:10534 stomach cancer ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:8099841|PMID:8118819|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9067756|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9546439|PMID:9569050|PMID:9582268|PMID:9598730|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:10652 Alzheimer's disease ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:17581637|REF_RGD_ID:2290573 8924440 Tp53 tumor protein p53 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R72P(human) PMID:23049825|REF_RGD_ID:8547822 8924440 Tp53 tumor protein p53 gene DOID:10763 hypertension ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8924440 Tp53 tumor protein p53 gene DOID:10811 nasal cavity cancer ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:19950227|REF_RGD_ID:8547762 8924440 Tp53 tumor protein p53 gene DOID:10964 cholesteatoma of middle ear ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:tympanic membrane,skin: PMID:9455944|REF_RGD_ID:8547787 8924440 Tp53 tumor protein p53 gene DOID:11054 urinary bladder cancer ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10411893|PMID:10519380|PMID:10797439|PMID:10922393|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11399766|PMID:11479205|PMID:11782540|PMID:11896595|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14559903|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16007150|PMID:1631151|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:18555592|PMID:18628487|PMID:19454241|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20978130|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22109999|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22319594|PMID:224644|PMID:22915647|PMID:22999923|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25318593|PMID:25326637|PMID:25612911|PMID:25741868|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26786923|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27146902|PMID:27276561|PMID:27328919|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28369373|PMID:28492532|PMID:28664506|PMID:28724667|PMID:28861920|PMID:28975465|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31321604|PMID:31775759|PMID:32000721|PMID:32156018|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32997996|PMID:33120919|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33372952|PMID:33471991|PMID:33840814|PMID:34529667|PMID:34709361|PMID:34906214|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8344492|PMID:8464896|PMID:8550239|PMID:8633021|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9667734|PMID:9704930 8924440 Tp53 tumor protein p53 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18208803|REF_RGD_ID:2290536 8924440 Tp53 tumor protein p53 gene DOID:1107 esophageal carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:10089074|PMID:10229196|PMID:10411893|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25294809|PMID:2531845|PMID:25326637|PMID:25339994|PMID:253702|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008 8924440 Tp53 tumor protein p53 gene DOID:1107 esophageal carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33635883|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34240179|PMID:34266904|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36219266|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9704930|PMID:9825943|PMID:9839505|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:1115 sarcoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27146902|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:28664506|PMID:28861920|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31321604|PMID:31775759|PMID:32000721|PMID:32906206|PMID:33257846|PMID:33372952|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9569050|PMID:9704930 8924440 Tp53 tumor protein p53 gene DOID:1115 sarcoma onset ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:21854749|REF_RGD_ID:11075090 8924440 Tp53 tumor protein p53 gene DOID:1115 sarcoma treatment ISO RGD:70502 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 8924440 Tp53 tumor protein p53 gene DOID:11198 DiGeorge syndrome ISO RGD:1317101 D RGD:9068941 20221103 RGD PMID:25197075|REF_RGD_ID:155641238 8924440 Tp53 tumor protein p53 gene DOID:1123 spondyloarthropathy ISO RGD:1615620 D RGD:9068941 20200609 RGD PMID:29494633|REF_RGD_ID:14995936 8924440 Tp53 tumor protein p53 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 8924440 Tp53 tumor protein p53 gene DOID:11934 head and neck cancer ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:11370630|PMID:11782540|PMID:16818505|PMID:17606709|PMID:20407015|PMID:20522432|PMID:21331359|PMID:21343334|PMID:21519010|PMID:22186996|PMID:22551548|PMID:22915647|PMID:23246812|PMID:23255406|PMID:24382691|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26225655|PMID:26230955|PMID:26585234|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27726232|PMID:27895058|PMID:27959731|PMID:28492532|PMID:28573494|PMID:28873162|PMID:30107858|PMID:30327374|PMID:30607672|PMID:31081129|PMID:31119730|PMID:31775759|PMID:33471991|PMID:34049842|PMID:34240179|PMID:35974385|PMID:36329109|PMID:36988593|PMID:9067756 8924440 Tp53 tumor protein p53 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000973 8924440 Tp53 tumor protein p53 gene DOID:12177 common variable immunodeficiency ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8924440 Tp53 tumor protein p53 gene DOID:12336 male infertility ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22773013 8924440 Tp53 tumor protein p53 gene DOID:12361 Graves' disease susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.p.R72P(human) PMID:17980001|REF_RGD_ID:8547807 8924440 Tp53 tumor protein p53 gene DOID:1240 leukemia disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow: PMID:26524016|REF_RGD_ID:11073730 8924440 Tp53 tumor protein p53 gene DOID:12450 pancytopenia ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:10089074|PMID:11051239|PMID:11782540|PMID:12826609|PMID:14743206|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:17881637|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:22955915|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31127191|PMID:31775759|PMID:32187361|PMID:36988593|PMID:8062826|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9150393|PMID:9242456|PMID:9598730|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:12930 dilated cardiomyopathy ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 8924440 Tp53 tumor protein p53 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:25741868|PMID:28492532|PMID:30146126 8924440 Tp53 tumor protein p53 gene DOID:1350 paranasal sinus benign neoplasm ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:22575263|REF_RGD_ID:8547763 8924440 Tp53 tumor protein p53 gene DOID:1350 paranasal sinus benign neoplasm treatment ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:23369851|REF_RGD_ID:8547764 8924440 Tp53 tumor protein p53 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R72P(rs1042522)(human) PMID:20357201|REF_RGD_ID:7387247 8924440 Tp53 tumor protein p53 gene DOID:13677 SAPHO syndrome ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19779722 8924440 Tp53 tumor protein p53 gene DOID:1380 endometrial cancer ISO RGD:11440 D RGD:9068941 20220825 MouseDO OMIM:608089 8924440 Tp53 tumor protein p53 gene DOID:14566 disease of cellular proliferation ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:14566 disease of cellular proliferation ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:14566 disease of cellular proliferation ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:10089074|PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17881637|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19127115|PMID:19378321|PMID:19454241|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22955915|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25157968|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31127191|PMID:31212162|PMID:31559875|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32156018|PMID:32187361|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33163847|PMID:33245408|PMID:33372952|PMID:33471991|PMID:33840814|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:14566 disease of cellular proliferation onset ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:22917926|REF_RGD_ID:11075077 8924440 Tp53 tumor protein p53 gene DOID:1520 colon carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15825182|PMID:16489069|PMID:16596195|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21288114|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21747090|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22919068|PMID:23161690|PMID:23246812|PMID:23538418|PMID:23894400|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:24952744|PMID:25157968|PMID:25525159|PMID:25612911|PMID:25741868|PMID:25896519|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28234344|PMID:28369373|PMID:28492532|PMID:29056573|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:31949278|PMID:32000721|PMID:32906206|PMID:33372952|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9704930 8924440 Tp53 tumor protein p53 gene DOID:161 keratosis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16930632|PMID:28785074 8924440 Tp53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:7240710 20240131 OMIM 8924440 Tp53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:15192123|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29489754|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:32000721|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33372952|PMID:33471991|PMID:33580201|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8633021|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 8924440 Tp53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31882575|PMID:32000721|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:35050731|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 8924440 Tp53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33471991|PMID:33580201|PMID:35050731|PMID:36988593|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 8924440 Tp53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33471991|PMID:33580201|PMID:35050731|PMID:36329109|PMID:36988593|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 8924440 Tp53 tumor protein p53 gene DOID:1612 breast cancer ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:14743206|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19454241|PMID:19523860|PMID:19671856|PMID:19701813|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22311583|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24665023|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25318593|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29058119|PMID:29070607|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30613367|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31786208|PMID:31882575|PMID:31949278|PMID:32000721|PMID:32318955|PMID:32504211|PMID:32566746|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32980694|PMID:33051313|PMID:33178583|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33471991|PMID:33580201|PMID:34676052|PMID:34863587|PMID:35050731|PMID:35802772|PMID:36329109|PMID:36980780|PMID:36988593|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9399838|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903 8924440 Tp53 tumor protein p53 gene DOID:1749 squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermoid carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma PMID:10557074|PMID:10713666|PMID:10754498|PMID:11590071|PMID:11793474|PMID:12779080|PMID:12826609|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15564800|PMID:1672732|PMID:16778209|PMID:16861262|PMID:18555592|PMID:21561095|PMID:25741868|PMID:26580448|PMID:26619011|PMID:27993330|PMID:28492532|PMID:29070607|PMID:29785153|PMID:29979965|PMID:30224644|PMID:30720243|PMID:30840781|PMID:31159747|PMID:32899294|PMID:9472631|PMID:9572492 8924440 Tp53 tumor protein p53 gene DOID:1790 malignant mesothelioma ISO RGD:70502 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 8924440 Tp53 tumor protein p53 gene DOID:1793 pancreatic cancer ISO RGD:11440 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:23873029|PMID:26390243 8924440 Tp53 tumor protein p53 gene DOID:1793 pancreatic cancer ISO RGD:70502 D RGD:9068941 20230506 RGD DNA:mutations:exon PMID:18772397|REF_RGD_ID:5490966 8924440 Tp53 tumor protein p53 gene DOID:1793 pancreatic cancer ISO RGD:70502 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 8924440 Tp53 tumor protein p53 gene DOID:182 calcinosis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:2113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22540896|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22844452|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24766216|PMID:24810334|PMID:25123297|PMID:25157968|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:2826609|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30297838|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31775759|PMID:32000721|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25123297|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27523101|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31775759|PMID:32000721|PMID:32475984|PMID:33372952|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27523101|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32475984|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33372952|PMID:33758026|PMID:34026625|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34266904|PMID:34805717|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28279309 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34266904|PMID:34805717|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25326637|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32906206|PMID:33087929|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33758026|PMID:34026625|PMID:34266904|PMID:34805717|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma | ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24857548|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25326637|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712 8924440 Tp53 tumor protein p53 gene DOID:1909 melanoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma | ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32187361|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34675114|PMID:34793666|PMID:34805717|PMID:35033608|PMID:35127508|PMID:35820297|PMID:35938033|PMID:36988593|PMID:3784963|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:1936 atherosclerosis ameliorates ISO RGD:11440 D RGD:9068941 20230330 RGD PMID:31757932|REF_RGD_ID:242905202 8924440 Tp53 tumor protein p53 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:32156018|PMID:32817165|PMID:32888145|PMID:33163847|PMID:33245408|PMID:33840814|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 8924440 Tp53 tumor protein p53 gene DOID:2154 nephroblastoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8924440 Tp53 tumor protein p53 gene DOID:2316 brain ischemia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19095966 8924440 Tp53 tumor protein p53 gene DOID:2394 ovarian cancer ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:10435620|PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17541742|PMID:17606709|PMID:18511570|PMID:18555592|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21601526|PMID:21761402|PMID:22186996|PMID:22811390|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25637381|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26086041|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28369373|PMID:28472496|PMID:28492532|PMID:29070607|PMID:29300620|PMID:29365323|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:32000721|PMID:32156018|PMID:32817165|PMID:32888145|PMID:33163847|PMID:33245408|PMID:33300245|PMID:33840814|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9572492|PMID:9667734 8924440 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:7240710 20240131 OMIM 8924440 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:2513 basal cell carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21118481|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25157968|PMID:25256166|PMID:25404506|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32156018|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33372952|PMID:33471991|PMID:33840814|PMID:34299313|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:2526 prostate adenocarcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:16206219|PMID:16247456|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16736287|PMID:16741917|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19012332|PMID:19101993|PMID:19171880|PMID:1918170|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25339994|PMID:25404506|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27077130|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607 8924440 Tp53 tumor protein p53 gene DOID:2526 prostate adenocarcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:29076966|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32906206|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33840814|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:2531 hematologic cancer ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation::p.R337H (human) PMID:28387921|REF_RGD_ID:14995484 8924440 Tp53 tumor protein p53 gene DOID:2626 choroid plexus papilloma ISO RGD:70502 D RGD:7240710 20240131 OMIM 8924440 Tp53 tumor protein p53 gene DOID:2626 choroid plexus papilloma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12085209|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21118481|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25157968|PMID:25256166|PMID:25404506|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32156018|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33372952|PMID:33471991|PMID:33840814|PMID:34299313|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:2671 transitional cell carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10064694|PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:16206219|PMID:16247456|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16736287|PMID:1673792|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25326637|PMID:25339994|PMID:253702|PMID:25404506|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727 8924440 Tp53 tumor protein p53 gene DOID:2671 transitional cell carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26332594|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35938033|PMID:35974385|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943|PMID:9839505 8924440 Tp53 tumor protein p53 gene DOID:2729 dyskeratosis congenita ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:17683073|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24033266|PMID:25741868|PMID:28492532 8924440 Tp53 tumor protein p53 gene DOID:2870 endometrial adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutations PMID:1540970|REF_RGD_ID:2290541 8924440 Tp53 tumor protein p53 gene DOID:2870 endometrial adenocarcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:1540970|REF_RGD_ID:2290541 8924440 Tp53 tumor protein p53 gene DOID:2871 endometrial carcinoma ISO RGD:70502 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:28492532 8924440 Tp53 tumor protein p53 gene DOID:2871 endometrial carcinoma severity ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, endometrium PMID:18431720|REF_RGD_ID:2298525 8924440 Tp53 tumor protein p53 gene DOID:299 adenocarcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:32000721|PMID:32156018|PMID:32817165|PMID:32888145|PMID:33163847|PMID:33245408|PMID:33840814|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 8924440 Tp53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:10029073|PMID:10064694|PMID:10089074|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10486243|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10629033|PMID:10653977|PMID:10654936|PMID:10697617|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11263856|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11399766|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11518751|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12076704|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12456286|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619118|PMID:12670525|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14656244|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14743206|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15342977|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15450421|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16206219|PMID:16209708|PMID:16229746|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16333835|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16543939|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17066464|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073 8924440 Tp53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17881637|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18477611|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19250386|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:19763152|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20307669|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056402|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21331359|PMID:21339461|PMID:21343334|PMID:2134334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21953469|PMID:22004116|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22267198|PMID:22311583|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22387016|PMID:22406018|PMID:22427690|PMID:22455664|PMID:224644|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22551548|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22811390|PMID:22822097|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22869713|PMID:22877736|PMID:22878818|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22955915|PMID:22983585|PMID:22989750|PMID:22999923|PMID:23031740|PMID:23056559|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693 8924440 Tp53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23363223|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23580068|PMID:23612572|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639312|PMID:23639785|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24857548|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24940547|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25059482|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256166|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:253702|PMID:25374282|PMID:25404506|PMID:25412846|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25762628|PMID:25773284|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25877891|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101868|PMID:27135926|PMID:27146902|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27328919|PMID:27341992|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27527004 8924440 Tp53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27713152|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:2802540|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28338653|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29058119|PMID:29059199|PMID:29069792|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29225734|PMID:29247016|PMID:29263802|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29805046|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29922827|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30042151|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:3022464|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30348990|PMID:30350464|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30851333|PMID:30867801|PMID:30883245|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31133068|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31320401|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31422818|PMID:31462179|PMID:31472337|PMID:31494577|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31719099|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31845386|PMID:31854063|PMID:31882575|PMID:31948886|PMID:31949278|PMID:31968253|PMID:31970404|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32095738|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32183364|PMID:32187361|PMID:32191290|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32401780|PMID:32427313|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32592449|PMID:32601264|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32832836|PMID:32854451 8924440 Tp53 tumor protein p53 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32930885|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32997996|PMID:32998877|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33603772|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:33932062|PMID:34026625|PMID:34049842|PMID:34088725|PMID:34166060|PMID:34196900|PMID:34198491|PMID:34240179|PMID:34249098|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34390506|PMID:34423517|PMID:34452612|PMID:34503094|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34540492|PMID:34607348|PMID:34654685|PMID:34675114|PMID:34676052|PMID:34709361|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34805717|PMID:34863587|PMID:34880421|PMID:34881245|PMID:34885220|PMID:34906214|PMID:34906512|PMID:34907344|PMID:34961499|PMID:34994652|PMID:35033608|PMID:35043155|PMID:35047863|PMID:35050731|PMID:35127508|PMID:35246108|PMID:35264596|PMID:35323354|PMID:35352025|PMID:35367578|PMID:35512711|PMID:35659507|PMID:35802772|PMID:35820297|PMID:35886069|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36219266|PMID:36290365|PMID:36309086|PMID:36329109|PMID:36964217|PMID:36980780|PMID:36988593|PMID:37067911|PMID:37149759|PMID:37562436|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7761089|PMID:7767487|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7936651|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8156519|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8685209|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8756654|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399658|PMID:9399838|PMID:9405613|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9723024|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:3021 acute kidney failure ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20603111 8924440 Tp53 tumor protein p53 gene DOID:305 carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17450239|PMID:9626339 8924440 Tp53 tumor protein p53 gene DOID:3052 Balkan nephropathy ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22071594 8924440 Tp53 tumor protein p53 gene DOID:3068 glioblastoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:10064694|PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14584079|PMID:14673037|PMID:1467311|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:16199549|PMID:16206219|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20364130|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:24857548|PMID:25059482|PMID:25119136|PMID:25157968|PMID:25186627 8924440 Tp53 tumor protein p53 gene DOID:3068 glioblastoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:253702|PMID:25404506|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25516983|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:2654466|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26718964|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27276934|PMID:27374712|PMID:27463065|PMID:27493922|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31296311|PMID:31494577|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34299313|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36219266|PMID:36329109|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8276238|PMID:8336941|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9607760|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9825943|PMID:9839505|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:3069 malignant astrocytoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant astrocytoma PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:16206219|PMID:1631137|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19012332|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24573247|PMID:24835218|PMID:24857548|PMID:25157968|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30709381|PMID:30816478|PMID:32000721|PMID:32156018|PMID:32475984|PMID:32817165|PMID:32888145|PMID:33163847|PMID:33245408|PMID:33407742|PMID:33840814|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8401536|PMID:8402598|PMID:8425176|PMID:8550239|PMID:8718514|PMID:8829627|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 8924440 Tp53 tumor protein p53 gene DOID:3069 malignant astrocytoma susceptibility ISO RGD:1550157 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds: PMID:24038521|REF_RGD_ID:13702858 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:7240710 20240131 OMIM 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1581912|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:2826609|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28476805|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30297838|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:35938033|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:35938033|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17881637|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25119136|PMID:25157968|PMID:25256166|PMID:25339994|PMID:25404506|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532 8924440 Tp53 tumor protein p53 gene DOID:3070 high grade glioma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 PMID:28724667|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33840814|PMID:34240179|PMID:34299313|PMID:34529667|PMID:34675114|PMID:34709361|PMID:35938033|PMID:35974385|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:3078 anaplastic astrocytoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Astrocytoma, anaplastic PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:16206219|PMID:1631137|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19012332|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24573247|PMID:24835218|PMID:24857548|PMID:25157968|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30709381|PMID:30816478|PMID:32000721|PMID:32156018|PMID:32475984|PMID:32817165|PMID:32888145|PMID:33163847|PMID:33245408|PMID:33407742|PMID:33840814|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8401536|PMID:8402598|PMID:8425176|PMID:8550239|PMID:8718514|PMID:8829627|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734 8924440 Tp53 tumor protein p53 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17274270 8924440 Tp53 tumor protein p53 gene DOID:3114 serous cystadenocarcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:16012716|REF_RGD_ID:8662305 8924440 Tp53 tumor protein p53 gene DOID:3121 gallbladder cancer ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:10089074|PMID:11051239|PMID:11370630|PMID:11782540|PMID:11793474|PMID:12406399|PMID:12506399|PMID:12826609|PMID:14673037|PMID:14743206|PMID:15925506|PMID:15993273|PMID:16199547|PMID:1631137|PMID:16489069|PMID:16818505|PMID:16861262|PMID:16969106|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17881637|PMID:18978813|PMID:19378321|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20436704|PMID:20522432|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21601526|PMID:21665182|PMID:21761402|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:22955915|PMID:23172776|PMID:23246812|PMID:23484829|PMID:23667202|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24382691|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25293557|PMID:25516983|PMID:25544776|PMID:25587027|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26718964|PMID:26787237|PMID:26911350|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28160093|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28975465|PMID:29025599|PMID:29752822|PMID:29979965|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30720243|PMID:31105275|PMID:31127191|PMID:31742824|PMID:31775759|PMID:32187361|PMID:32817165|PMID:33471991|PMID:34240179|PMID:36988593|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8276238|PMID:8425176|PMID:8527048|PMID:8688334|PMID:9150393|PMID:9242456|PMID:9598730|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:3213 demyelinating disease ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18550754 8924440 Tp53 tumor protein p53 gene DOID:3247 rhabdomyosarcoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519384|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11420676|PMID:11479205|PMID:11782540|PMID:11896595|PMID:11920959|PMID:12610779|PMID:12672316|PMID:12826609|PMID:1467311|PMID:14743206|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15951970|PMID:16199547|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16682957|PMID:1673792|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18628487|PMID:18685109|PMID:19367569|PMID:19454241|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20407015|PMID:20455025|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21665242|PMID:21761402|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22319594|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23538418|PMID:23625637|PMID:23639312|PMID:23894400|PMID:24033266|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24590827|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24728327|PMID:24764719|PMID:24810334|PMID:25157968|PMID:25326637|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25773284|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26681682|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28861920|PMID:28873162|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30816478|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32427313|PMID:32906206|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34540492|PMID:36988593|PMID:7706467|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8364550|PMID:8423216|PMID:8633021|PMID:9067756|PMID:9242456|PMID:9285560|PMID:9399838|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9681828|PMID:9704930 8924440 Tp53 tumor protein p53 gene DOID:326 ischemia ISO RGD:3889 D RGD:9068941 20200609 RGD associated with Wounds and Injuries;protein:increased expression:skin PMID:18337831|REF_RGD_ID:2290551 8924440 Tp53 tumor protein p53 gene DOID:326 ischemia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172883 8924440 Tp53 tumor protein p53 gene DOID:3275 thymoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 8924440 Tp53 tumor protein p53 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17434459 8924440 Tp53 tumor protein p53 gene DOID:3347 osteosarcoma ISO RGD:70502 D RGD:7240710 20240131 OMIM 8924440 Tp53 tumor protein p53 gene DOID:3347 osteosarcoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21118481|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25157968|PMID:25256166|PMID:25404506|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32156018|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33372952|PMID:33471991|PMID:33840814|PMID:34299313|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:3376 bone osteosarcoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12085209|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25157968|PMID:25256166|PMID:25404506|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32156018|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33372952|PMID:33471991|PMID:33840814|PMID:34299313|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:3393 coronary artery disease ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:misssense mutation: :p.R72P (rs1042522) (human) PMID:29482350|REF_RGD_ID:14995930 8924440 Tp53 tumor protein p53 gene DOID:3407 carotid artery disease ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16973168 8924440 Tp53 tumor protein p53 gene DOID:3458 breast adenocarcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:10713666|PMID:11479205|PMID:11896595|PMID:11920959|PMID:12826609|PMID:1673792|PMID:16861262|PMID:1686725|PMID:17606709|PMID:20128691|PMID:20522432|PMID:21343334|PMID:23625637|PMID:25503501|PMID:25584008|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29324801|PMID:29470806|PMID:29752822|PMID:29979965|PMID:30224644|PMID:30630526|PMID:33372952|PMID:7881428|PMID:8364550 8924440 Tp53 tumor protein p53 gene DOID:3459 breast carcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10922393|PMID:11139324|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199547|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18307025|PMID:18511570|PMID:19101993|PMID:19147582|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20805372|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23246812|PMID:23409989|PMID:23538418|PMID:23630318|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25564201|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681682|PMID:26786923|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28492532|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32658383|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9662334|PMID:9667734 8924440 Tp53 tumor protein p53 gene DOID:3459 breast carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14584079|PMID:15004724|PMID:15037740|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199547|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18307025|PMID:18511570|PMID:19101993|PMID:19147582|PMID:19556618|PMID:1978757|PMID:19850740|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20593220|PMID:20805372|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22822097|PMID:22869713|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23161690|PMID:23210734|PMID:23246812|PMID:23409989|PMID:23484829|PMID:23538418|PMID:23630318|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25256166|PMID:253702|PMID:25404506|PMID:25408419|PMID:25564201|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681682|PMID:26786923|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:32156018|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33163847|PMID:33245408|PMID:33372952|PMID:33471991|PMID:33818021|PMID:33840814|PMID:34529667|PMID:34607348|PMID:34709361|PMID:34793666|PMID:35127508|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9662334|PMID:9667734|PMID:9704930 8924440 Tp53 tumor protein p53 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29844410 8924440 Tp53 tumor protein p53 gene DOID:363 uterine cancer ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10064694|PMID:10089074|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19171880|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24857548|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:25339994|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:2654466|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237 8924440 Tp53 tumor protein p53 gene DOID:363 uterine cancer ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33758026|PMID:34026625|PMID:34240179|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35820297|PMID:36219266|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9096669|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:3702 cervical adenocarcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:17354237|REF_RGD_ID:2298527 8924440 Tp53 tumor protein p53 gene DOID:3717 gastric adenocarcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10064694|PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25326637|PMID:25339994|PMID:25404506 8924440 Tp53 tumor protein p53 gene DOID:3717 gastric adenocarcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32126783|PMID:32156018|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32980694|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33635883|PMID:33674644|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35264596|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943|PMID:9839505|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:17969407|REF_RGD_ID:2298526 8924440 Tp53 tumor protein p53 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 8924440 Tp53 tumor protein p53 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8924440 Tp53 tumor protein p53 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:misssense mutation: :p.R72P (rs1042522) (human) PMID:28789369|REF_RGD_ID:14995932 8924440 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496 8924440 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680 8924440 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10064694|PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290 8924440 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34266904|PMID:34805717|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10064694|PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:2531845|PMID:25326637|PMID:25339994|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159 8924440 Tp53 tumor protein p53 gene DOID:3907 lung squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:2554494|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32126783|PMID:32156018|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32980694|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33758026|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34805717|PMID:35033608|PMID:35264596|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36219266|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943|PMID:9839505|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:3908 lung non-small cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290066|PMID:23435014|PMID:24688052|PMID:30381462 8924440 Tp53 tumor protein p53 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:70502 D RGD:9068941 20210910 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 8924440 Tp53 tumor protein p53 gene DOID:3910 lung adenocarcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10064694|PMID:10089074|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21331359|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22551548|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24382691 8924440 Tp53 tumor protein p53 gene DOID:3910 lung adenocarcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25326637|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28573494|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30607672|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33635883|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34049842|PMID:34240179|PMID:34266904|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36219266|PMID:36329109|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456 8924440 Tp53 tumor protein p53 gene DOID:3910 lung adenocarcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Adenocarcinoma of lung, somatic | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943|PMID:9839505|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:3948 adrenocortical carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:10229196|PMID:10567903|PMID:10761705|PMID:10864200|PMID:10871862|PMID:11051239|PMID:11051241|PMID:11429705|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:12034820|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15017592|PMID:15037740|PMID:15390294|PMID:15607980|PMID:1565144|PMID:15951970|PMID:16247456|PMID:1631137|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17308077|PMID:17401428|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:18208484|PMID:18511570|PMID:18685109|PMID:18937320|PMID:18989156|PMID:19147582|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19454241|PMID:19468865|PMID:19681600|PMID:19850740|PMID:20127978|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21080251|PMID:21159183|PMID:21232794|PMID:21343334|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21626334|PMID:21761402|PMID:22186996|PMID:22484423|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22983585|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23894400|PMID:23967324|PMID:24033266|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24940547|PMID:25157968|PMID:25339994|PMID:253702|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27533082|PMID:27680515|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29070607|PMID:29076966|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32019277|PMID:32164171|PMID:32401780|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33818021|PMID:34240179|PMID:34675114|PMID:34793666|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35306447|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8164043|PMID:8423216|PMID:8479749|PMID:8869100|PMID:9020384|PMID:9157982|PMID:9242456|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9569050|PMID:9572492 8924440 Tp53 tumor protein p53 gene DOID:3969 thyroid gland papillary carcinoma susceptibility ISO RGD:70502 D RGD:9068941 20231026 RGD associated with Radiation-Induced Neoplasms;DNA:SNPs, haplotypes:exon 4: p.R72P (rs1042522) (human) PMID:19286843|REF_RGD_ID:401850780 8924440 Tp53 tumor protein p53 gene DOID:4001 ovarian carcinoma ISO RGD:70502 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25535366 8924440 Tp53 tumor protein p53 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10064694|PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24857548 8924440 Tp53 tumor protein p53 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32156018|PMID:32164171|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33635883|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36219266|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:4247 coronary restenosis ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:14740296|REF_RGD_ID:1580742 8924440 Tp53 tumor protein p53 gene DOID:4362 cervical cancer ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cancer of cervix PMID:12826609|PMID:1349102|PMID:15982667|PMID:16754663|PMID:1849234|PMID:19913028|PMID:20516128|PMID:20538734|PMID:22110706|PMID:25131192|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30374176|PMID:30816478|PMID:9407971 8924440 Tp53 tumor protein p53 gene DOID:4450 renal cell carcinoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16312222|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734 8924440 Tp53 tumor protein p53 gene DOID:4450 renal cell carcinoma ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16206219|PMID:1631137|PMID:16312222|PMID:16401470|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20028212|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:33407742|PMID:33471991|PMID:34026625|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8425176|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734 8924440 Tp53 tumor protein p53 gene DOID:4450 renal cell carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11370630|PMID:11429705|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15958617|PMID:15977174|PMID:15982667|PMID:16206219|PMID:1631137|PMID:16312222|PMID:16401470|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20028212|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20593220|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21118481|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24065105|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:24857548|PMID:25186627|PMID:25256166|PMID:25293557|PMID:253702|PMID:25404506|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27189670|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32318955|PMID:32475984|PMID:32817165|PMID:32885271|PMID:33087929|PMID:33208383|PMID:33332384|PMID:33407742|PMID:33471991|PMID:33818021|PMID:34026625|PMID:34240179|PMID:34675114|PMID:34793666|PMID:35033608|PMID:35127508|PMID:35938033|PMID:36219266|PMID:36988593|PMID:3784963|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8402598|PMID:8425176|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:960674|PMID:9635828|PMID:9662334|PMID:9667734 8924440 Tp53 tumor protein p53 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:17094408|REF_RGD_ID:2290544 8924440 Tp53 tumor protein p53 gene DOID:4465 papillary renal cell carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10432928|PMID:10589545|PMID:10922393|PMID:11139324|PMID:11668501|PMID:11782540|PMID:12826609|PMID:14559903|PMID:15037740|PMID:1565143|PMID:15977174|PMID:16312222|PMID:16818505|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17390010|PMID:17606709|PMID:18307025|PMID:19101993|PMID:19367569|PMID:19556618|PMID:20028212|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20593220|PMID:20805372|PMID:21056685|PMID:21118481|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21514416|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22265402|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23630318|PMID:24065105|PMID:24381225|PMID:24487413|PMID:24603336|PMID:24641375|PMID:24702488|PMID:24744791|PMID:25256166|PMID:25404506|PMID:25584008|PMID:25741868|PMID:25945745|PMID:25952993|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26911350|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27463065|PMID:27680515|PMID:27714481|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28975465|PMID:29070607|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30730202|PMID:30816478|PMID:31105275|PMID:31300551|PMID:31775759|PMID:32475984|PMID:32817165|PMID:33087929|PMID:33300245|PMID:33471991|PMID:33674644|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8118819|PMID:8242631|PMID:8401536|PMID:8633021|PMID:9242456|PMID:9627118|PMID:9662334 8924440 Tp53 tumor protein p53 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:28551630|REF_RGD_ID:15036804 8924440 Tp53 tumor protein p53 gene DOID:4468 clear cell adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9754764 8924440 Tp53 tumor protein p53 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:11370630|PMID:11782540|PMID:12826609|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15958617|PMID:16206219|PMID:1631137|PMID:16818505|PMID:17015838|PMID:17606709|PMID:19012332|PMID:19468865|PMID:20407015|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:24573247|PMID:24857548|PMID:25186627|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25952993|PMID:26014290|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30709381|PMID:30816478|PMID:32000721|PMID:32475984|PMID:33407742|PMID:8401536|PMID:8402598|PMID:8425176|PMID:8718514|PMID:8829627 8924440 Tp53 tumor protein p53 gene DOID:4905 pancreatic carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1581912|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:18689542|PMID:18818522|PMID:19101993|PMID:19127115|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21060032|PMID:21118481|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24556621|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24797764|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25404506|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26000489|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26484312|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27101868|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28975465|PMID:29059199|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30653764|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32156018|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33372952|PMID:33471991|PMID:33818021|PMID:33840814|PMID:34299313|PMID:34529667|PMID:34709361|PMID:34907344|PMID:35512711|PMID:35974385|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8102535|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8513440|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015 8924440 Tp53 tumor protein p53 gene DOID:4905 pancreatic carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:4914 esophagus adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 8924440 Tp53 tumor protein p53 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:11440 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:26059825|REF_RGD_ID:11075076 8924440 Tp53 tumor protein p53 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:3889 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:26059825|REF_RGD_ID:11075076 8924440 Tp53 tumor protein p53 gene DOID:4947 cholangiocarcinoma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818635 8924440 Tp53 tumor protein p53 gene DOID:4947 cholangiocarcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 8924440 Tp53 tumor protein p53 gene DOID:4948 gallbladder carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:10616528|PMID:11370630|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12509279|PMID:12726864|PMID:12826609|PMID:15077194|PMID:15607980|PMID:15607981|PMID:1565143|PMID:16209708|PMID:16312222|PMID:16401470|PMID:16633321|PMID:16778209|PMID:16818505|PMID:16861262|PMID:17311302|PMID:17530187|PMID:17606709|PMID:17875924|PMID:18511570|PMID:18555592|PMID:19462533|PMID:19556618|PMID:20128691|PMID:20407015|PMID:20516128|PMID:21113594|PMID:21343334|PMID:21519010|PMID:21590121|PMID:21761402|PMID:22006311|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22427690|PMID:22553421|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23713777|PMID:23792586|PMID:24573247|PMID:25433984|PMID:25503501|PMID:25584008|PMID:25741868|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26467025|PMID:26497680|PMID:26585234|PMID:26619011|PMID:26911350|PMID:27189670|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28279309|PMID:28369373|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29979965|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30730202|PMID:31119730|PMID:31296311|PMID:31775759|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33633026|PMID:35820297|PMID:8023157|PMID:8062826|PMID:8164043|PMID:8336941|PMID:8401536|PMID:8633021|PMID:8825920|PMID:9049183|PMID:9290701|PMID:9546439|PMID:9632751 8924440 Tp53 tumor protein p53 gene DOID:4971 myelofibrosis disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Myelodysplastic Syndromes; PMID:26123119|REF_RGD_ID:11073713 8924440 Tp53 tumor protein p53 gene DOID:5041 esophageal cancer ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:11101847|PMID:11782540|PMID:12007217|PMID:12619118|PMID:12826609|PMID:14743206|PMID:15607980|PMID:15607981|PMID:15977174|PMID:16401470|PMID:16489069|PMID:16818505|PMID:17606709|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19405127|PMID:19881536|PMID:19930417|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20689556|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22006311|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22698404|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23713777|PMID:23792586|PMID:24033266|PMID:24573247|PMID:25059482|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26534844|PMID:26585234|PMID:26619011|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28492532|PMID:28873162|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8118819|PMID:8164043|PMID:8825920|PMID:9047394|PMID:9242456 8924440 Tp53 tumor protein p53 gene DOID:5409 lung small cell carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16741917|PMID:16778209|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24307375|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25256166|PMID:25326637|PMID:25339994|PMID:25404506|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27523101|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30546832|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759 8924440 Tp53 tumor protein p53 gene DOID:5409 lung small cell carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma PMID:31882575|PMID:32000721|PMID:32187361|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33138793|PMID:33208383|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33674644|PMID:34240179|PMID:34266904|PMID:34675114|PMID:35820297|PMID:35938033|PMID:36988593|PMID:3784963|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:5411 lung oat cell carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16741917|PMID:16778209|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24307375|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25256166|PMID:25326637|PMID:25339994|PMID:25404506|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27523101|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30546832|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575 8924440 Tp53 tumor protein p53 gene DOID:5411 lung oat cell carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:32000721|PMID:32187361|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33138793|PMID:33208383|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:33674644|PMID:34240179|PMID:34266904|PMID:34675114|PMID:35820297|PMID:35938033|PMID:36988593|PMID:3784963|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:5419 schizophrenia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 8924440 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic PMID:10229196|PMID:10366100|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12067251|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14639659|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1581912|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17947339|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21878961|PMID:21934104|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379 8924440 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23570263|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23733769|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24908601|PMID:24936644|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25339994|PMID:25348012|PMID:25428789|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28230820|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29059199|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29844874|PMID:29875428|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32295079|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32885271|PMID:32930885|PMID:33128190|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33758026|PMID:33818021|PMID:34026625|PMID:4122735 8924440 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic PMID:7565304|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9470817|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10064694|PMID:10089074|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11403041|PMID:11423991|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14639659|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1581912|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:17947339|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21153778|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21331359|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21445056|PMID:21445348|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21626334 8924440 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21878961|PMID:21934104|PMID:22004116|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22373952|PMID:22427690|PMID:22455664|PMID:22484423|PMID:22551548|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056559|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23570263|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24763289|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24884479|PMID:24908601|PMID:24936644|PMID:25059482|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25256166|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:2531845|PMID:25326637|PMID:25339994|PMID:25348012|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27449771|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28202063|PMID:28230820|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28767289|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29058119 8924440 Tp53 tumor protein p53 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:29059199|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29392648|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29844874|PMID:29875428|PMID:29922827|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:31978118|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32592449|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32930885|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33504652|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34049842|PMID:34240179|PMID:34266904|PMID:34273903|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34885220|PMID:34907344|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35323354|PMID:35367578|PMID:35512711|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36219266|PMID:36329109|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9470817|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9891044|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:5648 choroid plexus carcinoma ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Choroid plexus carcinoma PMID:10089074|PMID:11051239|PMID:11782540|PMID:12826609|PMID:14743206|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:17881637|PMID:18762572|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22713868|PMID:22915647|PMID:22955915|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31127191|PMID:31775759|PMID:32187361|PMID:36988593|PMID:8062826|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9150393|PMID:9242456|PMID:9598730|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15781620|PMID:16007150|PMID:16199547|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17541742|PMID:17576681|PMID:17606709|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19930417|PMID:19933256|PMID:20128691|PMID:20407015|PMID:20436704|PMID:20504876|PMID:20505364|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21626334|PMID:21666498|PMID:22170717|PMID:22186996|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23406775|PMID:23484829|PMID:23555315|PMID:23667851|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25056374|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26690524|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9667734|PMID:9681828 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23406775|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21761402|PMID:22170717|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10089074|PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21761402|PMID:22170717|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32187361|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10089074|PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21761402|PMID:22170717|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32187361|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:29987015|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30613367|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32187361|PMID:32295079|PMID:32566746|PMID:32817165|PMID:32885271|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30613367|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32187361|PMID:32295079|PMID:32566746|PMID:32817165|PMID:32885271|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10089074|PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10777217|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18923929|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21445348|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22455664|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23172776|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29126202|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29946497|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31948886|PMID:31978118|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32986223|PMID:33128190|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33818021|PMID:34240179|PMID:3471991|PMID:34885220|PMID:35367578|PMID:35806449|PMID:36003761|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8164043|PMID:8242752|PMID:8336941|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:8825920|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10089074|PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10777217|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18923929|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21445348|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23172776|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24665023|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27146902|PMID:27210295|PMID:27223487 8924440 Tp53 tumor protein p53 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29076966|PMID:29126202|PMID:29170254|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29946497|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31948886|PMID:31978118|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33051313|PMID:33089535|PMID:33128190|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33818021|PMID:34049842|PMID:34240179|PMID:3471991|PMID:34863587|PMID:34885220|PMID:35323354|PMID:35367578|PMID:35806449|PMID:35820297|PMID:35974385|PMID:36003761|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7885831|PMID:7887414|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8164043|PMID:8242752|PMID:8336941|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:8825920|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:5744 ovary serous adenocarcinoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA, protein:loss of heterozygosity, increased expression:ovary PMID:1310251|REF_RGD_ID:2290540 8924440 Tp53 tumor protein p53 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:10064694|PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055 8924440 Tp53 tumor protein p53 gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:25326637|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32156018|PMID:32164171|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33635883|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36219266|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:5773 oral submucous fibrosis ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa: PMID:23776093|REF_RGD_ID:8547855 8924440 Tp53 tumor protein p53 gene DOID:5844 myocardial infarction ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 8924440 Tp53 tumor protein p53 gene DOID:6000 congestive heart failure ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21284947 8924440 Tp53 tumor protein p53 gene DOID:6171 uterine carcinosarcoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:10064694|PMID:10089074|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18989156|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25326637|PMID:25339994|PMID:25404506|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25612911|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:2654466|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27179933|PMID:27189670 8924440 Tp53 tumor protein p53 gene DOID:6171 uterine carcinosarcoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29076966|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30322717|PMID:30327374|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31168460|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32126783|PMID:32156018|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34308366|PMID:34529667|PMID:34709361|PMID:34805717|PMID:34994652|PMID:35264596|PMID:35820297|PMID:35974385|PMID:36219266|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943|PMID:9839505 8924440 Tp53 tumor protein p53 gene DOID:6179 ovarian small cell carcinoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Small cell carcinoma of the ovary, hypercalcemic type 8924440 Tp53 tumor protein p53 gene DOID:6432 pulmonary hypertension treatment ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:24334871|REF_RGD_ID:10043360 8924440 Tp53 tumor protein p53 gene DOID:6536 plasma cell neoplasm ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10064694|PMID:10089074|PMID:10411893|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15993273|PMID:16258005|PMID:1631137|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:1673792|PMID:16793544|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17881637|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20878954|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22955915|PMID:22983585|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23264849|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:25339994|PMID:253702|PMID:25428789|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26534844|PMID:2654466|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32164171|PMID:32187361|PMID:32295079|PMID:32817165|PMID:32906206|PMID:33372952|PMID:33471991|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34240179|PMID:34308366|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:36219266|PMID:36988593|PMID:3784963|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8276238|PMID:8364550|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021 8924440 Tp53 tumor protein p53 gene DOID:6536 plasma cell neoplasm ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:8688334|PMID:9020384|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9242456|PMID:9290701|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:960674|PMID:9635828|PMID:9667734|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:657 adenoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21946351 8924440 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:7240710 20240131 OMIM 8924440 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25326637|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395 8924440 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:33372952|PMID:33635883|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858 8924440 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:33372952|PMID:33635883|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15564800|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16000567|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18477611|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18689542|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011 8924440 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26628864|PMID:26641009|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:32899294|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:34026625|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9047394|PMID:9049183|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9405613|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:10064694|PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15564800|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:16199549|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775 8924440 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25059482|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25326637|PMID:25339994|PMID:253702|PMID:25404506|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25516983|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26718964|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33635883|PMID:33674644|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34299313|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36219266|PMID:36329109|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749 8924440 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9047394|PMID:9049183|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9472631|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943|PMID:9839505|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3889 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 8924440 Tp53 tumor protein p53 gene DOID:6846 familial melanoma ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:12826609|PMID:25741868|PMID:28492532 8924440 Tp53 tumor protein p53 gene DOID:6846 familial melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:12826609|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644 8924440 Tp53 tumor protein p53 gene DOID:687 hepatoblastoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12826609|PMID:1565143|PMID:17606709|PMID:19556618|PMID:20128691|PMID:21343334|PMID:22887876|PMID:23031740|PMID:23259501|PMID:25584008|PMID:25741868|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26911350|PMID:27189670|PMID:28279309|PMID:28492532|PMID:28975465|PMID:29070607|PMID:29979965|PMID:30224644|PMID:31775759|PMID:32475984|PMID:32817165|PMID:33087929|PMID:8401536|PMID:8633021 8924440 Tp53 tumor protein p53 gene DOID:700 mitochondrial metabolism disease ISO RGD:70502 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 8924440 Tp53 tumor protein p53 gene DOID:705 Leber hereditary optic neuropathy onset ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R72P(human) PMID:15838728|REF_RGD_ID:5688732 8924440 Tp53 tumor protein p53 gene DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:28930868|REF_RGD_ID:14995501 8924440 Tp53 tumor protein p53 gene DOID:7614 meninges sarcoma ISO RGD:3889 D RGD:9068941 20210430 RGD PMID:27528400|REF_RGD_ID:12738450 8924440 Tp53 tumor protein p53 gene DOID:769 neuroblastoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:10064694|PMID:10864200|PMID:11896595|PMID:12826609|PMID:15925506|PMID:17390010|PMID:17572079|PMID:19850740|PMID:20407015|PMID:21305319|PMID:21343334|PMID:23894400|PMID:25293557|PMID:25741868|PMID:26619011|PMID:27493922|PMID:28492532|PMID:29979965|PMID:30224644|PMID:34026625|PMID:34240179|PMID:7651740|PMID:9546439 8924440 Tp53 tumor protein p53 gene DOID:83 cataract ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:21504908|REF_RGD_ID:8547757 8924440 Tp53 tumor protein p53 gene DOID:8418 congenital fibrosarcoma ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Infantile fibrosarcoma PMID:10089074|PMID:11051239|PMID:11782540|PMID:12826609|PMID:14743206|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:17881637|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:22955915|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31127191|PMID:31775759|PMID:32187361|PMID:36988593|PMID:8062826|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9150393|PMID:9242456|PMID:9598730|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:8541 Sezary's disease ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667|PMID:26551670 8924440 Tp53 tumor protein p53 gene DOID:863 nervous system disease ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9369336 8924440 Tp53 tumor protein p53 gene DOID:8725 vascular dementia ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18083315|REF_RGD_ID:2290557 8924440 Tp53 tumor protein p53 gene DOID:8761 acute megakaryocytic leukemia ISO RGD:70502 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia PMID:11370630|PMID:20522432|PMID:25741868|PMID:28492532 8924440 Tp53 tumor protein p53 gene DOID:8893 psoriasis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10384915 8924440 Tp53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053 8924440 Tp53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24857548|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25326637|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712 8924440 Tp53 tumor protein p53 gene DOID:8923 skin melanoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32187361|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34675114|PMID:34793666|PMID:34805717|PMID:35033608|PMID:35127508|PMID:35820297|PMID:35938033|PMID:36988593|PMID:3784963|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185509|PMID:24997986 8924440 Tp53 tumor protein p53 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23595775|REF_RGD_ID:10412063 8924440 Tp53 tumor protein p53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:11440 D RGD:9068941 20200609 RGD associated with Carcinoma, Squamous Cell; PMID:18059331|REF_RGD_ID:8547790 8924440 Tp53 tumor protein p53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:missense mutation, duplication:cds, intron:p.R72P PMID:18230179|REF_RGD_ID:2290534 8924440 Tp53 tumor protein p53 gene DOID:9000081 Lymphatic Metastasis ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Penile Neoplasms PMID:18268397|REF_RGD_ID:2290533 8924440 Tp53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12706858 8924440 Tp53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:16778087|REF_RGD_ID:8547873 8924440 Tp53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa: PMID:26439224|REF_RGD_ID:11075085 8924440 Tp53 tumor protein p53 gene DOID:9000117 Esophageal Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634542|PMID:26192916 8924440 Tp53 tumor protein p53 gene DOID:9000217 Stomach Neoplasms ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neoplasm of stomach PMID:11040944|PMID:11391594|PMID:11782540|PMID:12826609|PMID:15173255|PMID:15580553|PMID:16818505|PMID:17224268|PMID:17289876|PMID:17606709|PMID:17727479|PMID:19367569|PMID:19714488|PMID:20407015|PMID:21232794|PMID:21343334|PMID:21512767|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22652532|PMID:22710932|PMID:22915647|PMID:23246812|PMID:23484829|PMID:23894400|PMID:24033266|PMID:24728327|PMID:24868540|PMID:25527155|PMID:25637381|PMID:25741868|PMID:25952993|PMID:26086041|PMID:26230955|PMID:26467025|PMID:26585234|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28125078|PMID:28492532|PMID:28772286|PMID:28861920|PMID:29300620|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30374176|PMID:30883245|PMID:31016814|PMID:31159747|PMID:31749828|PMID:31786208|PMID:32658383|PMID:32817165|PMID:33245408|PMID:33300245|PMID:34676052|PMID:34863587|PMID:35802772|PMID:36980780|PMID:8198984|PMID:8203469|PMID:9865903 8924440 Tp53 tumor protein p53 gene DOID:9000227 Hypogonadism and Testicular Atrophy ISO RGD:3889 D RGD:9068941 20211001 RGD PMID:28834365|REF_RGD_ID:14995504 8924440 Tp53 tumor protein p53 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 8924440 Tp53 tumor protein p53 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 8924440 Tp53 tumor protein p53 gene DOID:9000647 Acute Erythroleukemia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 8924440 Tp53 tumor protein p53 gene DOID:9000906 Oropharyngeal Neoplasms disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:11072161|REF_RGD_ID:8547874 8924440 Tp53 tumor protein p53 gene DOID:9000918 Disease Progression ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 8924440 Tp53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531|PMID:23873029|PMID:27137931 8924440 Tp53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis ISO RGD:3889 D RGD:9068941 20200609 RGD associated with Sarcoma; PMID:21854749|REF_RGD_ID:11075090 8924440 Tp53 tumor protein p53 gene DOID:9000965 Neoplasm Metastasis ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17949449 8924440 Tp53 tumor protein p53 gene DOID:9001510 Funnel Chest ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: funnel chest PMID:10089074|PMID:11051239|PMID:11782540|PMID:12826609|PMID:14743206|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:17881637|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:22955915|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31127191|PMID:31775759|PMID:32187361|PMID:36988593|PMID:8062826|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9150393|PMID:9242456|PMID:9598730|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 8924440 Tp53 tumor protein p53 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10626228 8924440 Tp53 tumor protein p53 gene DOID:9001626 Chromosome 17 Deletion ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961032 8924440 Tp53 tumor protein p53 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3889 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17901943|REF_RGD_ID:2290561 8924440 Tp53 tumor protein p53 gene DOID:9002170 Experimental Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12756225|PMID:27137931 8924440 Tp53 tumor protein p53 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16682957|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17881637|PMID:18307025|PMID:18511570|PMID:18685109|PMID:18937320|PMID:19101993|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:21056685|PMID:21059199|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23484829|PMID:23538418|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:253702|PMID:25404506|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28160093|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31168460|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32126783|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32817165|PMID:32906206|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33818021|PMID:34026625|PMID:34240179|PMID:34308366|PMID:34793666|PMID:34994652|PMID:35033608|PMID:35127508 8924440 Tp53 tumor protein p53 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:36988593|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7791795|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8718514|PMID:8825920|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9704930|PMID:9825943|PMID:9839505 8924440 Tp53 tumor protein p53 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:10867151|REF_RGD_ID:11075074 8924440 Tp53 tumor protein p53 gene DOID:9002304 Prostatic Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434975|PMID:17202838|PMID:20875869|PMID:21946351|PMID:25735316|PMID:26005866|PMID:29295717|PMID:29610475 8924440 Tp53 tumor protein p53 gene DOID:9002371 Cardiotoxicity ISO RGD:11440 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30009776|PMID:34713381 8924440 Tp53 tumor protein p53 gene DOID:9002371 Cardiotoxicity ISO RGD:70502 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:30009776|PMID:34713381 8924440 Tp53 tumor protein p53 gene DOID:9002641 Bone Marrow Neoplasms disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:24761810|REF_RGD_ID:11073734 8924440 Tp53 tumor protein p53 gene DOID:9002644 Premature Aging ISO RGD:11440 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19500727|REF_RGD_ID:10045876 8924440 Tp53 tumor protein p53 gene DOID:9002762 Ovarian Neoplasms ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10064694|PMID:10089074|PMID:10229196|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11399766|PMID:11420676|PMID:11423991|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12610779|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349102|PMID:1349175|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14673037|PMID:14743206|PMID:14965603|PMID:15004724|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15308588|PMID:15342977|PMID:15381368|PMID:15390294|PMID:15564800|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:1672732|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16969106|PMID:17015838|PMID:17224268|PMID:17311302|PMID:17318340|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18307025|PMID:18391940|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1918170|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20364130|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20478780|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21331359|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21665182|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:22551548|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22878818|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22955915|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23409989|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23612969|PMID:23625637 8924440 Tp53 tumor protein p53 gene DOID:9002762 Ovarian Neoplasms ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:23630318|PMID:23639785|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24744791|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24835311|PMID:24857548|PMID:24929325|PMID:25059482|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25226867|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25612911|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25981898|PMID:26014290|PMID:26024390|PMID:26029016|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28091804|PMID:28152038|PMID:28160093|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30107858|PMID:30154229|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30322717|PMID:30327374|PMID:30374176|PMID:30607672|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31559875|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32029870|PMID:32126783|PMID:32156018|PMID:32179180|PMID:32187361|PMID:32191290|PMID:32295079|PMID:32475984|PMID:32555031|PMID:32601264|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32930885|PMID:32980694|PMID:32994724|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33245408|PMID:33251333|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33504652|PMID:33633026|PMID:33635883|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34049842|PMID:34095982|PMID:34240179|PMID:34299313|PMID:34529667|PMID:34607348|PMID:34654685|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34906512|PMID:35127508|PMID:35820297|PMID:35974385|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:7978053|PMID:8023157|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8208536|PMID:8242631|PMID:8276238|PMID:8302608|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8688334|PMID:8718514|PMID:8825920 8924440 Tp53 tumor protein p53 gene DOID:9002762 Ovarian Neoplasms ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:8829627|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9452042|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9825943|PMID:9839505 8924440 Tp53 tumor protein p53 gene DOID:9002775 Cognitive Dysfunction ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:10089074|PMID:11051239|PMID:11782540|PMID:12826609|PMID:14743206|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:17881637|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:22955915|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31127191|PMID:31775759|PMID:32187361|PMID:36988593|PMID:8062826|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9150393|PMID:9242456|PMID:9598730|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:9002884 Emphysema ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22276220 8924440 Tp53 tumor protein p53 gene DOID:9002928 Colonic Neoplasms ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:12826609|PMID:20978130|PMID:24549055|PMID:25741868|PMID:28492532|PMID:28861920|PMID:29979965|PMID:30224644|PMID:33471991|PMID:34326862 8924440 Tp53 tumor protein p53 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) PMID:21706156|REF_RGD_ID:11073725 8924440 Tp53 tumor protein p53 gene DOID:9003036 Oral Lichen Planus ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:12120703|REF_RGD_ID:8547838 8924440 Tp53 tumor protein p53 gene DOID:9003036 Oral Lichen Planus ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:epithelium PMID:16393253|REF_RGD_ID:8547841 8924440 Tp53 tumor protein p53 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 8924440 Tp53 tumor protein p53 gene DOID:9003196 Penile Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9626339 8924440 Tp53 tumor protein p53 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:10567903|PMID:10589545|PMID:10914716|PMID:11051239|PMID:11593407|PMID:11782540|PMID:11793474|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12826609|PMID:14673037|PMID:15825182|PMID:15925506|PMID:16288208|PMID:1631151|PMID:16337994|PMID:16818505|PMID:16861262|PMID:17606709|PMID:18555592|PMID:18818522|PMID:18989156|PMID:19367569|PMID:19681600|PMID:19834951|PMID:20128691|PMID:20407015|PMID:20878954|PMID:21115975|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22915647|PMID:22999923|PMID:23246812|PMID:23265383|PMID:23334668|PMID:24590827|PMID:25294809|PMID:25326637|PMID:25504633|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25927356|PMID:25952993|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26781615|PMID:27179933|PMID:27276561|PMID:27463065|PMID:27501770|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28160093|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29470806|PMID:29753700|PMID:29979965|PMID:30224644|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:32000721|PMID:32817165|PMID:33471991|PMID:34266904|PMID:34308366|PMID:34994652|PMID:35264596|PMID:7737263|PMID:8023157|PMID:8276238|PMID:8344492|PMID:8464896|PMID:8633021|PMID:9020384|PMID:9157982|PMID:9268986|PMID:9572492 8924440 Tp53 tumor protein p53 gene DOID:9003535 Bone Marrow Failure Syndrome 5 ISO RGD:70502 D RGD:7240710 20240131 OMIM 8924440 Tp53 tumor protein p53 gene DOID:9003535 Bone Marrow Failure Syndrome 5 ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 5 PMID:10432928|PMID:10519380|PMID:10589545|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15037740|PMID:15355915|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16818505|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21118481|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24573247|PMID:24641375|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24835218|PMID:25059482|PMID:25157968|PMID:25256166|PMID:25404506|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26911350|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29489754|PMID:29979965|PMID:30146126|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32156018|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33372952|PMID:33840814|PMID:34299313|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9003566 Mesothelioma ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151629 8924440 Tp53 tumor protein p53 gene DOID:9003571 Paraproteinemias ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10064694|PMID:10089074|PMID:10411893|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15993273|PMID:16258005|PMID:1631137|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:1673792|PMID:16793544|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17881637|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20878954|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22955915|PMID:22983585|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23264849|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:25339994|PMID:253702|PMID:25428789|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26534844|PMID:2654466|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32164171|PMID:32187361|PMID:32295079|PMID:32817165|PMID:32906206|PMID:33372952|PMID:33471991|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34240179|PMID:34308366|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:36219266|PMID:36988593|PMID:3784963|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8276238|PMID:8364550|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021 8924440 Tp53 tumor protein p53 gene DOID:9003571 Paraproteinemias ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:8688334|PMID:9020384|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9242456|PMID:9290701|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:960674|PMID:9635828|PMID:9667734|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:9003694 Cecal Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 8924440 Tp53 tumor protein p53 gene DOID:9004009 Reperfusion Injury ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:brain, mitochondrion PMID:17661174|REF_RGD_ID:2290568 8924440 Tp53 tumor protein p53 gene DOID:9004059 Eye Neoplasms ISO RGD:11440 D RGD:9068941 20230429 RGD PMID:21504908|REF_RGD_ID:8547757 8924440 Tp53 tumor protein p53 gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20176786 8924440 Tp53 tumor protein p53 gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:16889904|REF_RGD_ID:2290545 8924440 Tp53 tumor protein p53 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:70502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive PMID:25741868|PMID:28492532 8924440 Tp53 tumor protein p53 gene DOID:9004397 Calcification of Aortic Valve ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 8924440 Tp53 tumor protein p53 gene DOID:9004397 Calcification of Aortic Valve ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 8924440 Tp53 tumor protein p53 gene DOID:9004464 Skin Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531|PMID:27923803 8924440 Tp53 tumor protein p53 gene DOID:9004464 Skin Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12635827 8924440 Tp53 tumor protein p53 gene DOID:9004464 Skin Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism,mutations:cds:p.R72P(human) PMID:21123835|REF_RGD_ID:8547834 8924440 Tp53 tumor protein p53 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) PMID:24732641|REF_RGD_ID:11073715 8924440 Tp53 tumor protein p53 gene DOID:9004547 Thyroid Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16940797 8924440 Tp53 tumor protein p53 gene DOID:9004643 Urologic Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22071594 8924440 Tp53 tumor protein p53 gene DOID:9004997 Pediatric Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, pediatric PMID:10864200|PMID:11051239|PMID:11481490|PMID:11600572|PMID:11753428|PMID:12826609|PMID:15121773|PMID:15741269|PMID:16033918|PMID:16494995|PMID:16750598|PMID:18248785|PMID:18762572|PMID:19046423|PMID:19717094|PMID:19877175|PMID:20301488|PMID:20407015|PMID:21192060|PMID:21343334|PMID:21445348|PMID:21468523|PMID:22004116|PMID:22455664|PMID:22507745|PMID:23056559|PMID:23469205|PMID:23570263|PMID:23733769|PMID:23794094|PMID:23894400|PMID:24884479|PMID:24936644|PMID:25584008|PMID:25736369|PMID:25741868|PMID:25945745|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26681051|PMID:27081505|PMID:27223487|PMID:27663983|PMID:27714481|PMID:28369373|PMID:28387921|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28756477|PMID:28864397|PMID:28968711|PMID:28984303|PMID:29392648|PMID:29922827|PMID:29979965|PMID:30042151|PMID:30107858|PMID:30224644|PMID:30596752|PMID:30982232|PMID:31105275|PMID:31494577|PMID:31744167|PMID:31748977|PMID:31978118|PMID:32039725|PMID:32156018|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32986223|PMID:33258288|PMID:33300245|PMID:33603772|PMID:33637564|PMID:34885220|PMID:35367578|PMID:36003761|PMID:36329109|PMID:36988593|PMID:9582268|PMID:9704930|PMID:9704931 8924440 Tp53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:7240710 20240131 OMIM 8924440 Tp53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:10064694|PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10519380|PMID:10557074|PMID:10589545|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11040944|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11222779|PMID:11315715|PMID:11370630|PMID:11391594|PMID:11399766|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:12067251|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:1467311|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611070|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1581912|PMID:15825182|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16322298|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:16750598|PMID:16778209|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17727479|PMID:17881637|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18989156|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19250386|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19671856|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19913028|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20364130|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:21934104|PMID:22004116|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22455664|PMID:224644|PMID:22495821|PMID:22507745|PMID:2259385|PMID:22652532|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918 8924440 Tp53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22955915|PMID:22983585|PMID:23031740|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23403321|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23639312|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24764719|PMID:24797764|PMID:24810334|PMID:24835218|PMID:24868540|PMID:24884479|PMID:24936644|PMID:25034526|PMID:25059482|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25256166|PMID:25299233|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25348012|PMID:25365311|PMID:253702|PMID:25404506|PMID:25412846|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25669829|PMID:25736369|PMID:25741868|PMID:25757876|PMID:25773284|PMID:25787918|PMID:25794615|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27081505|PMID:27101868|PMID:27146902|PMID:27153395|PMID:27157322|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27545002|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27657329|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27713152|PMID:27714481|PMID:27741277|PMID:27866339|PMID:27895058|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27993330|PMID:28091804|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28915717|PMID:28961258|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29079597|PMID:29126202|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29392648|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29769598|PMID:29922827|PMID:29945567|PMID:29955864|PMID:29979965|PMID:30042151|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30154229|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30653764|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:30982232|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31321604|PMID:31494577|PMID:31559875|PMID:31567591|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31882575|PMID:31948886 8924440 Tp53 tumor protein p53 gene DOID:9005024 Hereditary Adrenocortical Carcinoma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary PMID:31968253|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32427313|PMID:32475984|PMID:32552660|PMID:32566746|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32986223|PMID:32997996|PMID:33011440|PMID:33087929|PMID:33120919|PMID:33163847|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33603772|PMID:33637564|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34088725|PMID:34240179|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34540492|PMID:34675114|PMID:34676052|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34863587|PMID:34885220|PMID:34906512|PMID:34907344|PMID:34961499|PMID:35033608|PMID:35043155|PMID:35047863|PMID:35050731|PMID:35127508|PMID:35246108|PMID:35367578|PMID:35512711|PMID:35802772|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36980780|PMID:36988593|PMID:37149759|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7796267|PMID:7885831|PMID:7887414|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8242752|PMID:8276238|PMID:8302608|PMID:8308926|PMID:8352280|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8649785|PMID:8675009|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9049183|PMID:9115587|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9865903|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:12826609|PMID:20522432|PMID:25741868|PMID:27545002|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644|PMID:30816478|PMID:32658383 8924440 Tp53 tumor protein p53 gene DOID:9005161 Thymus Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10850423 8924440 Tp53 tumor protein p53 gene DOID:9005172 Lung Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16247444|PMID:26390243 8924440 Tp53 tumor protein p53 gene DOID:9005172 Lung Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD DNA:transitional mutations:exons: PMID:10564948|REF_RGD_ID:11075092 8924440 Tp53 tumor protein p53 gene DOID:9005172 Lung Neoplasms ISO RGD:70502 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11798837|PMID:16410370|PMID:17325666|PMID:20727180|PMID:26192916|PMID:8049841 8924440 Tp53 tumor protein p53 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:10589545|PMID:10871862|PMID:10914716|PMID:11370630|PMID:11782540|PMID:11920788|PMID:12007217|PMID:12124823|PMID:12826609|PMID:15607980|PMID:15607981|PMID:15825182|PMID:16288208|PMID:1631151|PMID:16401470|PMID:16494995|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17541742|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18555592|PMID:19468865|PMID:19834951|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20516128|PMID:20522432|PMID:21343334|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21761402|PMID:22006311|PMID:22186996|PMID:22233476|PMID:22915647|PMID:22999923|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23792586|PMID:24033266|PMID:24384472|PMID:24573247|PMID:24728327|PMID:25326637|PMID:25503501|PMID:25741868|PMID:25927356|PMID:25952993|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26585234|PMID:26619011|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28861920|PMID:29076966|PMID:29489754|PMID:29979965|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30327374|PMID:30720243|PMID:30840781|PMID:31119730|PMID:31296311|PMID:31775759|PMID:32019277|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33633026|PMID:34266904|PMID:6736287|PMID:7707106|PMID:7885831|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8164043|PMID:8344492|PMID:8464896|PMID:8633021|PMID:8825920|PMID:8869100|PMID:9546439|PMID:9632751 8924440 Tp53 tumor protein p53 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24809783 8924440 Tp53 tumor protein p53 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:17470299|REF_RGD_ID:2290577 8924440 Tp53 tumor protein p53 gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:18092324|REF_RGD_ID:2290539 8924440 Tp53 tumor protein p53 gene DOID:9005582 Adrenal Cortex Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation::p.R337H (human) PMID:28387921|REF_RGD_ID:14995484 8924440 Tp53 tumor protein p53 gene DOID:9005612 Endometrial Intraepithelial Neoplasia ISO RGD:70502 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Atypical endometrial hyperplasia PMID:12826609|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644 8924440 Tp53 tumor protein p53 gene DOID:9005642 Odontogenic Myxoma ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:hypomethylation:promotor: PMID:22011900|REF_RGD_ID:8547808 8924440 Tp53 tumor protein p53 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21078376 8924440 Tp53 tumor protein p53 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:24828139|REF_RGD_ID:8662307 8924440 Tp53 tumor protein p53 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792339 8924440 Tp53 tumor protein p53 gene DOID:9005779 Polyploidy ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25125259 8924440 Tp53 tumor protein p53 gene DOID:9005804 Vulvar Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:30514679|REF_RGD_ID:14995938 8924440 Tp53 tumor protein p53 gene DOID:9005804 Vulvar Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:16033093|REF_RGD_ID:2290537 8924440 Tp53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16543248 8924440 Tp53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:12167434|REF_RGD_ID:8547871 8924440 Tp53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:9485768|REF_RGD_ID:8547872 8924440 Tp53 tumor protein p53 gene DOID:9005873 Tongue Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:21903770|REF_RGD_ID:8547850 8924440 Tp53 tumor protein p53 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Head and Neck Neoplasms PMID:11370630|PMID:11782540|PMID:16818505|PMID:17606709|PMID:20407015|PMID:20522432|PMID:21331359|PMID:21343334|PMID:21519010|PMID:22186996|PMID:22551548|PMID:22915647|PMID:23246812|PMID:23255406|PMID:24382691|PMID:25157968|PMID:25741868|PMID:25952993|PMID:26225655|PMID:26230955|PMID:26585234|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27726232|PMID:27895058|PMID:27959731|PMID:28492532|PMID:28573494|PMID:28873162|PMID:30107858|PMID:30327374|PMID:30607672|PMID:31081129|PMID:31119730|PMID:31775759|PMID:33471991|PMID:34049842|PMID:34240179|PMID:35974385|PMID:36329109|PMID:36988593|PMID:9067756 8924440 Tp53 tumor protein p53 gene DOID:9006205 Animal Disease Models ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23873029 8924440 Tp53 tumor protein p53 gene DOID:9006657 Colon Diverticulum ISO RGD:70502 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colonic diverticula PMID:16969106|PMID:17567834|PMID:19556618|PMID:19711436|PMID:19714490|PMID:20436704|PMID:20522432|PMID:21519010|PMID:21665182|PMID:21761402|PMID:22186996|PMID:23484829|PMID:24033266|PMID:24382691|PMID:25516983|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26425688|PMID:26718964|PMID:26911350|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28492532|PMID:30224644|PMID:31742824 8924440 Tp53 tumor protein p53 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9369336 8924440 Tp53 tumor protein p53 gene DOID:9006864 Trigeminal Nerve Injuries ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:22977862|REF_RGD_ID:8547771 8924440 Tp53 tumor protein p53 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11370630|PMID:11429705|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15958617|PMID:15977174|PMID:15982667|PMID:16206219|PMID:1631137|PMID:16312222|PMID:16401470|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20028212|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20593220|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21118481|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24065105|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:24857548|PMID:25186627|PMID:25256166|PMID:25293557|PMID:253702|PMID:25404506|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27189670|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32318955|PMID:32475984|PMID:32817165|PMID:32885271|PMID:33087929|PMID:33208383|PMID:33332384|PMID:33407742|PMID:33471991|PMID:33818021|PMID:34026625|PMID:34240179|PMID:34675114|PMID:34793666|PMID:35033608|PMID:35127508|PMID:35938033|PMID:36219266|PMID:36988593|PMID:3784963|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8402598|PMID:8425176|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:960674|PMID:9635828|PMID:9662334|PMID:9667734 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10206274|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10507764|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11715068|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12509970|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15192123|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:1562462|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16061860|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16477330|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18978813|PMID:19012332|PMID:19020536|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19160491|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19581934|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22983585|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24395441|PMID:24448499|PMID:24451277|PMID:24487276|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25923920|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718692|PMID:26718964|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26876197|PMID:26878390|PMID:26900293|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27194209|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27267833|PMID:27276561|PMID:27297285|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27626311|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28199989|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:28271309|PMID:28288110|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29247016|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29769598|PMID:29770616|PMID:29785153|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30093976|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31462179|PMID:31567591|PMID:31666926|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32283892|PMID:32295079|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32566746|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32885271|PMID:32930885|PMID:33051313|PMID:33128190|PMID:33178583|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33635883|PMID:33818021|PMID:34198491|PMID:34240179|PMID:34452612|PMID:3471991|PMID:34739844|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:920706|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9865903|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:19165225|PMID:19171880|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19581934|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22983585|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24395441|PMID:24448499|PMID:24451277|PMID:24487276|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24853176 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25923920|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718692|PMID:26718964|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26876197|PMID:26878390|PMID:26900293|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27194209|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27267833|PMID:27276561|PMID:27297285|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27626311|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28199989|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:28271309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29174094|PMID:29247016|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29769598|PMID:29770616|PMID:29785153|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31462179|PMID:31567591|PMID:31666926|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32283892|PMID:32295079|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32566746|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32885271|PMID:32916163|PMID:32930885|PMID:33051313|PMID:33128190|PMID:33178583|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33580201|PMID:33635883|PMID:33818021|PMID:34198491|PMID:34240179|PMID:34390506|PMID:34452612|PMID:3471991|PMID:34739844|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:920706|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9865903|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10097082|PMID:10206274|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11715068|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34906512|PMID:34961499|PMID:35050731|PMID:35886069|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34264394|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:34961499|PMID:34994652|PMID:35050731|PMID:35886069|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34264394|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:34961499|PMID:34994652|PMID:35050731|PMID:35886069|PMID:35938033|PMID:36290365|PMID:36329109|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32187361|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33646313|PMID:33758026|PMID:33818021|PMID:33932062|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34654685|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34863587|PMID:34881245|PMID:34906512|PMID:34961499|PMID:34994652|PMID:35033608|PMID:35050731|PMID:35512711|PMID:35886069|PMID:35938033|PMID:35974385|PMID:36290365|PMID:36329109|PMID:36988593|PMID:37067911|PMID:37562436|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10089074|PMID:10097082|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14743206|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15450421|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16206219|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17066464|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17881637|PMID:17903248 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22004116|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22455664|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23056559|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639312|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25412846|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25773284|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27527004|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27713152|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29922827|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30042151|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31133068|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31320401|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31422818|PMID:31462179|PMID:31472337|PMID:31494577|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31843900|PMID:31845386|PMID:31854063|PMID:31881331|PMID:31882575|PMID:31948886|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32164171|PMID:32183364|PMID:32187361|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32401780|PMID:32427313|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32592449|PMID:32601264|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32930885|PMID:32986223|PMID:32994724|PMID:32998877|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33087929|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33603772|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33646313|PMID:33758026|PMID:33818021 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33932062|PMID:34026625|PMID:34088725|PMID:34095982|PMID:34099776|PMID:34166060|PMID:34198491|PMID:34240179|PMID:34249098|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34503094|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34654685|PMID:34676052|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793697|PMID:34805717|PMID:34863587|PMID:34881245|PMID:34885220|PMID:34906512|PMID:34961499|PMID:34994652|PMID:35033608|PMID:35043155|PMID:35047863|PMID:35050731|PMID:35367578|PMID:35512711|PMID:35659507|PMID:35802772|PMID:35886069|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36290365|PMID:36309086|PMID:36329109|PMID:36964217|PMID:36980780|PMID:36988593|PMID:37067911|PMID:37149759|PMID:37562436|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8156519|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10064694|PMID:10089074|PMID:10097082|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10629033|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11399766|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14743206|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15450421|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16206219|PMID:16209708|PMID:16229746|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17066464|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17724467|PMID:17727479|PMID:17875924|PMID:17881637|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:182969|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21197471|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22004116|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22455664|PMID:224644|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22551548|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22822097|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22869713|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22955915|PMID:22983585|PMID:22989750|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23056559|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639312|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23825024|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24857548|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25059482|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256166|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:253702|PMID:25404506|PMID:25412846|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25773284|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101868|PMID:27135926|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27516001|PMID:27523101|PMID:27527004|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27713152|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:28993730|PMID:29025599|PMID:29056573|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29922827|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30042151|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30350464|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30851333|PMID:30883245|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31133068|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31320401|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31422818|PMID:31462179|PMID:31472337|PMID:31494577|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31843900|PMID:31845386|PMID:31854063|PMID:31881331|PMID:31882575|PMID:31948886|PMID:31949278|PMID:31968253|PMID:31970404|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32095738|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32183364|PMID:32187361|PMID:32191290|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32401780|PMID:32427313|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32592449|PMID:32601264|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32832836|PMID:32854451 8924440 Tp53 tumor protein p53 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32930885|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32997996|PMID:32998877|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33603772|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:33932062|PMID:34026625|PMID:34049842|PMID:34088725|PMID:34095982|PMID:34099776|PMID:34166060|PMID:34196900|PMID:34198491|PMID:34240179|PMID:34249098|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34390506|PMID:34423517|PMID:34452612|PMID:34503094|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34540492|PMID:34607348|PMID:34654685|PMID:34675114|PMID:34676052|PMID:34709361|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34805717|PMID:34863587|PMID:34880421|PMID:34881245|PMID:34885220|PMID:34906214|PMID:34906512|PMID:34907344|PMID:34961499|PMID:34994652|PMID:35033608|PMID:35043155|PMID:35047863|PMID:35050731|PMID:35127508|PMID:35246108|PMID:35264596|PMID:35306447|PMID:35323354|PMID:35352025|PMID:35367578|PMID:35512711|PMID:35659507|PMID:35802772|PMID:35820297|PMID:35886069|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36219266|PMID:36290365|PMID:36309086|PMID:36329109|PMID:36964217|PMID:36980780|PMID:36988593|PMID:37067911|PMID:37149759|PMID:37562436|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8156519|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:9007150 Urogenital Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17300232 8924440 Tp53 tumor protein p53 gene DOID:9007188 Liver Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12378512|PMID:16410370 8924440 Tp53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19435901 8924440 Tp53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:16778087|REF_RGD_ID:8547873 8924440 Tp53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:3889 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:oral epithelium PMID:17595763|REF_RGD_ID:2290572 8924440 Tp53 tumor protein p53 gene DOID:9007364 Mouth Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 8924440 Tp53 tumor protein p53 gene DOID:9007400 Lip Neoplasms ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:17238970|REF_RGD_ID:8662391 8924440 Tp53 tumor protein p53 gene DOID:9007456 Female Infertility ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22532853 8924440 Tp53 tumor protein p53 gene DOID:9007502 Brain Neoplasms ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Brain neoplasm | ClinVar Annotator: match by term: Neoplasm of brain PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627 8924440 Tp53 tumor protein p53 gene DOID:9007502 Brain Neoplasms ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Brain neoplasm | ClinVar Annotator: match by term: Neoplasm of brain PMID:25256166|PMID:25294809|PMID:25326637|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32156018|PMID:32164171|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34240179|PMID:34266904|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36219266|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009531 8924440 Tp53 tumor protein p53 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15550242 8924440 Tp53 tumor protein p53 gene DOID:9007661 Dwarfism ISO RGD:70502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Short stature PMID:10089074|PMID:11051239|PMID:11782540|PMID:12826609|PMID:14743206|PMID:1631137|PMID:16489069|PMID:16818505|PMID:17417627|PMID:17427234|PMID:17606709|PMID:17881637|PMID:19378321|PMID:1978757|PMID:20013323|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21059199|PMID:21343334|PMID:21519010|PMID:21601526|PMID:22186996|PMID:22265402|PMID:22713868|PMID:22915647|PMID:22955915|PMID:23172776|PMID:23246812|PMID:23667202|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:25157968|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29979965|PMID:30224644|PMID:30327374|PMID:31127191|PMID:31775759|PMID:32187361|PMID:36988593|PMID:8062826|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9150393|PMID:9242456|PMID:9598730|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8924440 Tp53 tumor protein p53 gene DOID:9007715 Endometrial Neoplasms ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7955072 8924440 Tp53 tumor protein p53 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:18317410|REF_RGD_ID:2290554 8924440 Tp53 tumor protein p53 gene DOID:9007964 Arsenic Poisoning ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18621066|PMID:19203779 8924440 Tp53 tumor protein p53 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10432928|PMID:10589545|PMID:10922393|PMID:11139324|PMID:11668501|PMID:11782540|PMID:12826609|PMID:14559903|PMID:15037740|PMID:1565143|PMID:15977174|PMID:16312222|PMID:16818505|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17390010|PMID:17606709|PMID:18307025|PMID:19101993|PMID:19367569|PMID:19556618|PMID:20028212|PMID:20128691|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20593220|PMID:20805372|PMID:21056685|PMID:21118481|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21514416|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22265402|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23630318|PMID:24065105|PMID:24381225|PMID:24487413|PMID:24603336|PMID:24641375|PMID:24702488|PMID:24744791|PMID:25256166|PMID:25404506|PMID:25584008|PMID:25741868|PMID:25945745|PMID:25952993|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26911350|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27463065|PMID:27680515|PMID:27714481|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28975465|PMID:29070607|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30730202|PMID:30816478|PMID:31105275|PMID:31300551|PMID:31775759|PMID:32475984|PMID:32817165|PMID:33087929|PMID:33300245|PMID:33471991|PMID:33674644|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8118819|PMID:8242631|PMID:8401536|PMID:8633021|PMID:9242456|PMID:9627118|PMID:9662334 8924440 Tp53 tumor protein p53 gene DOID:9008138 Ductal Carcinoma ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 8924440 Tp53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21331359|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159 8924440 Tp53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36329109|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms | ClinVar Annotator: match by term: Colorectal neoplasm PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36329109|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21331359|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22551548|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218 8924440 Tp53 tumor protein p53 gene DOID:9008443 Colorectal Neoplasms ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:24857548|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25294809|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28573494|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30607672|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32156018|PMID:32164171|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34049842|PMID:34240179|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36219266|PMID:36329109|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:11440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9493073 8924440 Tp53 tumor protein p53 gene DOID:9008828 Li-Fraumeni-Like Syndrome ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Li-fraumeni-like syndrome PMID:10519380|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:16206219|PMID:1631137|PMID:16401470|PMID:16494995|PMID:16551709|PMID:1679237|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19012332|PMID:19147582|PMID:19468865|PMID:19930417|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20805372|PMID:21059199|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22672556|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24573247|PMID:24835218|PMID:24857548|PMID:25157968|PMID:25186627|PMID:2531845|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26619011|PMID:26786923|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27077130|PMID:27276561|PMID:27276934|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28975465|PMID:29581140|PMID:29958926|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30709381|PMID:30816478|PMID:31168460|PMID:32000721|PMID:32126783|PMID:32156018|PMID:32179180|PMID:32475984|PMID:32817165|PMID:32888145|PMID:33163847|PMID:33245408|PMID:33407742|PMID:33471991|PMID:33840814|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7791795|PMID:8023157|PMID:8134127|PMID:8164043|PMID:8401536|PMID:8402598|PMID:8425176|PMID:8550239|PMID:8718514|PMID:8829627|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9667734|PMID:9839505 8924440 Tp53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10064694|PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11222779|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16033918|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19701813|PMID:19717094|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21445348|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22455664|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056559|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812 8924440 Tp53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24884479|PMID:24936644|PMID:24940547|PMID:25059482|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25736369|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26497680|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27081505|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28756477|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29392648|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29922827|PMID:29946497|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30596752|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31978118|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34308366 8924440 Tp53 tumor protein p53 gene DOID:9008939 Breast Neoplasms ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34885220|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35367578|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36219266|PMID:36329109|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9979965 8924440 Tp53 tumor protein p53 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R72P PMID:18230179|REF_RGD_ID:2290534 8924440 Tp53 tumor protein p53 gene DOID:9008952 Breast Cancer, Familial ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12019170|PMID:12067251|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15722483|PMID:15781620|PMID:1581912|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:1679237|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:18689542|PMID:18818522|PMID:19101993|PMID:19127115|PMID:19147582|PMID:19336573|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19881536|PMID:19930417|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20978130|PMID:21059199|PMID:21060032|PMID:21118481|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21761402|PMID:21934104|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22311583|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23334668|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24556621|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24665023|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24936644|PMID:25059482|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25256166|PMID:25299233|PMID:2531845|PMID:25318593|PMID:25404506|PMID:25490274|PMID:25490678|PMID:25516983|PMID:2554494|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26000489|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26484312|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27059324|PMID:27101868|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27210295|PMID:27276561|PMID:27276934|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27866339|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28975465|PMID:29059199|PMID:29070607|PMID:2932480|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29958926|PMID:29979965 8924440 Tp53 tumor protein p53 gene DOID:9008952 Breast Cancer, Familial ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:30067863|PMID:30076369|PMID:30092803|PMID:30224644|PMID:30287823|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30607672|PMID:30653764|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31168460|PMID:31278746|PMID:31567591|PMID:31742824|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32126783|PMID:32156018|PMID:32179180|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32658383|PMID:32817165|PMID:32832836|PMID:32888145|PMID:32906206|PMID:32994724|PMID:33087929|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33372952|PMID:33471991|PMID:33818021|PMID:33840814|PMID:34240179|PMID:34273903|PMID:34299313|PMID:34529667|PMID:34709361|PMID:34906214|PMID:34907344|PMID:35033608|PMID:35512711|PMID:35974385|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8308926|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9839505|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10411893|PMID:10519380|PMID:10797439|PMID:10922393|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11399766|PMID:11479205|PMID:11782540|PMID:11896595|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14559903|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:1631151|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18511570|PMID:18555592|PMID:18628487|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22109999|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22319594|PMID:22915647|PMID:22999923|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25326637|PMID:25612911|PMID:25741868|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26786923|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27328919|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28369373|PMID:28492532|PMID:28724667|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31775759|PMID:32000721|PMID:32156018|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33163847|PMID:33245408|PMID:33372952|PMID:33471991|PMID:33840814|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8344492|PMID:8464896|PMID:8550239|PMID:8633021|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9667734|PMID:9704930 8924440 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Inherited acute myeloid leukemia PMID:10089074|PMID:10411893|PMID:10432928|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19101993|PMID:19147582|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19521721|PMID:19556618|PMID:19681600|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22540896|PMID:22553421|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23196062|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23887774|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26066407|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27533082|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30720243|PMID:30816478 8924440 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Inherited acute myeloid leukemia PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31212162|PMID:31300551|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:33635883|PMID:34266904|PMID:35938033|PMID:36329109|PMID:36988593|PMID:7732013|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8829653|PMID:9047394|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic PMID:10089074|PMID:10411893|PMID:10432928|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19101993|PMID:19147582|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19521721|PMID:19556618|PMID:19681600|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22540896|PMID:22553421|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23196062|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23887774|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26066407|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27533082|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30720243|PMID:30816478 8924440 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31212162|PMID:31300551|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:33635883|PMID:34266904|PMID:35938033|PMID:36329109|PMID:36988593|PMID:7732013|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:9047394|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Inherited acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic PMID:10089074|PMID:10411893|PMID:10432928|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19101993|PMID:19147582|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19521721|PMID:19556618|PMID:19681600|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22540896|PMID:22553421|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23196062|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23887774|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25326637|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26066407|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27533082|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134 8924440 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Inherited acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31212162|PMID:31300551|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32658383|PMID:32817165|PMID:32906206|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:33635883|PMID:34266904|PMID:35938033|PMID:36329109|PMID:36988593|PMID:7732013|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:9047394|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic PMID:10089074|PMID:10411893|PMID:10432928|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19101993|PMID:19147582|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19521721|PMID:19556618|PMID:19681600|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22540896|PMID:22553421|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22989750|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23196062|PMID:23246812|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23887774|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25256166|PMID:25326637|PMID:25339994|PMID:253702|PMID:25404506|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26066407|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27533082|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29752822 8924440 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31212162|PMID:31300551|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:33635883|PMID:33674644|PMID:33818021|PMID:34240179|PMID:34266904|PMID:34675114|PMID:34793666|PMID:35127508|PMID:35820297|PMID:35938033|PMID:36329109|PMID:36988593|PMID:7732013|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:9047394|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9704930|PMID:9825943|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD PMID:25412846|REF_RGD_ID:11057925 8924440 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:24836762|REF_RGD_ID:11073714 8924440 Tp53 tumor protein p53 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:25573287|REF_RGD_ID:11075071 8924440 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:7240710 20240131 OMIM 8924440 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11479205|PMID:11782540|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18391940|PMID:18511570|PMID:19012332|PMID:19127115|PMID:19468865|PMID:19556618|PMID:19881536|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667851|PMID:23792586|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25348012|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32566746|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8134126|PMID:8164043|PMID:8401536|PMID:8423216|PMID:8550239|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9667734 8924440 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25348012|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32475984|PMID:32566746|PMID:32658383|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33818021|PMID:34299313|PMID:3471991|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25348012|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32475984|PMID:32566746|PMID:32658383|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33818021|PMID:34299313|PMID:3471991|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16206219|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25348012|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32475984|PMID:32566746|PMID:32658383|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33818021|PMID:34299313|PMID:3471991|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10629033|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16206219|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21118481|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24857548|PMID:25059482|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25348012|PMID:25404506|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30709381|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31278746|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32156018|PMID:32191290|PMID:32475984|PMID:32566746|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32994724|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33471991|PMID:33818021|PMID:33840814|PMID:34299313|PMID:34529667|PMID:34709361|PMID:3471991|PMID:35974385|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043 8924440 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:8242752|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer no_association ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P72R (human) PMID:29286614|REF_RGD_ID:14995500 8924440 Tp53 tumor protein p53 gene DOID:9256 colorectal cancer treatment ISO RGD:3889 D RGD:9068941 20200609 RGD PMID:29546074|REF_RGD_ID:14995449 8924440 Tp53 tumor protein p53 gene DOID:9261 nasopharynx carcinoma ISO RGD:70502 D RGD:7240710 20240131 OMIM 8924440 Tp53 tumor protein p53 gene DOID:9261 nasopharynx carcinoma ISO RGD:70502 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nasopharyngeal carcinoma PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21118481|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25157968|PMID:25256166|PMID:25326637|PMID:25404506|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32156018|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33372952|PMID:33471991|PMID:33840814|PMID:34299313|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8344492|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044 8924440 Tp53 tumor protein p53 gene DOID:9538 multiple myeloma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:10064694|PMID:10089074|PMID:10411893|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15925506|PMID:15951970|PMID:15993273|PMID:16258005|PMID:1631137|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:1673792|PMID:16793544|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17308077|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17881637|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19147582|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20878954|PMID:21059199|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22955915|PMID:22983585|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23264849|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25293557|PMID:25294809|PMID:25339994|PMID:253702|PMID:25428789|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26022348|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26534844|PMID:2654466|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26781615|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30583724|PMID:30630526|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32164171|PMID:32187361|PMID:32295079|PMID:32817165|PMID:32906206|PMID:33372952|PMID:33471991|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34240179|PMID:34308366|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:36219266|PMID:36988593|PMID:3784963|PMID:7651740|PMID:7732013|PMID:7737263|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8276238|PMID:8364550|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021 8924440 Tp53 tumor protein p53 gene DOID:9538 multiple myeloma ISO RGD:70502 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:8688334|PMID:8718514|PMID:9020384|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9242456|PMID:9290701|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:960674|PMID:9635828|PMID:9667734|PMID:9704930|PMID:9825943 8924440 Tp53 tumor protein p53 gene DOID:9538 multiple myeloma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R72P(human) PMID:24611901|REF_RGD_ID:11073716 8924440 Tp53 tumor protein p53 gene DOID:9538 multiple myeloma disease_progression ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:22261445|REF_RGD_ID:11073728 8924440 Tp53 tumor protein p53 gene DOID:9538 multiple myeloma treatment ISO RGD:70502 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:12745272|REF_RGD_ID:11075073 8924440 Tp53 tumor protein p53 gene DOID:9655 oral mucosa leukoplakia ISO RGD:3889 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:12167434|REF_RGD_ID:8547871 8924440 Tp53 tumor protein p53 gene DOID:9655 oral mucosa leukoplakia ISO RGD:70502 D RGD:9068941 20200609 RGD protein:increased expression:oral mucosa: PMID:23776093|REF_RGD_ID:8547855 8924440 Tp53 tumor protein p53 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:70502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 8924457 Dctn2 dynactin subunit 2 gene DOID:0050890 synucleinopathy ISO RGD:1303182 D RGD:9068941 20200609 RGD PMID:19295143|REF_RGD_ID:11049591 8924457 Dctn2 dynactin subunit 2 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1352908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 8924457 Dctn2 dynactin subunit 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:26517670 8924457 Dctn2 dynactin subunit 2 gene DOID:607 paraplegia ISO RGD:1352908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8924457 Dctn2 dynactin subunit 2 gene DOID:630 genetic disease ISO RGD:1352908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924457 Dctn2 dynactin subunit 2 gene DOID:6846 familial melanoma ISO RGD:1352908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8924457 Dctn2 dynactin subunit 2 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1352908 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 8924483 Muc21 mucin 21, cell surface associated gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1606083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8924483 Muc21 mucin 21, cell surface associated gene DOID:11372 megacolon ISO RGD:1606083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8924483 Muc21 mucin 21, cell surface associated gene DOID:630 genetic disease ISO RGD:1606083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924503 Maz MYC associated zinc finger protein gene DOID:0060019 coronin-1A deficiency ISO RGD:1315360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8924503 Maz MYC associated zinc finger protein gene DOID:0060041 autism spectrum disorder ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8924503 Maz MYC associated zinc finger protein gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1315360 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8924503 Maz MYC associated zinc finger protein gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1315360 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8924503 Maz MYC associated zinc finger protein gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1315360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8924503 Maz MYC associated zinc finger protein gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1315360 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8924503 Maz MYC associated zinc finger protein gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1315360 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8924503 Maz MYC associated zinc finger protein gene DOID:12849 autistic disorder ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8924503 Maz MYC associated zinc finger protein gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8924503 Maz MYC associated zinc finger protein gene DOID:5419 schizophrenia ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8924503 Maz MYC associated zinc finger protein gene DOID:630 genetic disease ISO RGD:1315360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924503 Maz MYC associated zinc finger protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8924503 Maz MYC associated zinc finger protein gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1315360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8924514 Grwd1 glutamate rich WD repeat containing 1 gene DOID:10283 prostate cancer ISO RGD:1344190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8924514 Grwd1 glutamate rich WD repeat containing 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1344190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8924514 Grwd1 glutamate rich WD repeat containing 1 gene DOID:630 genetic disease ISO RGD:1344190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924514 Grwd1 glutamate rich WD repeat containing 1 gene DOID:9006205 Animal Disease Models ISO RGD:1344190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8924526 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8924526 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1315195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8924526 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1826 epilepsy ISO RGD:1315195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8924526 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8924526 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1315195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8924526 Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 gene DOID:630 genetic disease ISO RGD:1315195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924544 Tacr3 tachykinin receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:735782 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 8924544 Tacr3 tachykinin receptor 3 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:735782 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8924544 Tacr3 tachykinin receptor 3 gene DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia ISO RGD:735782 D RGD:7240710 20180130 OMIM 8924544 Tacr3 tachykinin receptor 3 gene DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia PMID:18422838|PMID:19079066|PMID:20194706|PMID:20332248|PMID:21300340|PMID:22031817|PMID:22035731|PMID:23329188|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33363893 8924544 Tacr3 tachykinin receptor 3 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated GnRH Deficiency 8924544 Tacr3 tachykinin receptor 3 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25636053 8924544 Tacr3 tachykinin receptor 3 gene DOID:10763 hypertension ISO RGD:3810 D RGD:9068941 20200609 RGD PMID:2471579|REF_RGD_ID:2305984 8924544 Tacr3 tachykinin receptor 3 gene DOID:11832 visual epilepsy ISO RGD:3810 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:7898759|REF_RGD_ID:2305980 8924544 Tacr3 tachykinin receptor 3 gene DOID:13938 amenorrhea ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 8924544 Tacr3 tachykinin receptor 3 gene DOID:1574 alcohol use disorder ISO RGD:735782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422838 8924544 Tacr3 tachykinin receptor 3 gene DOID:1921 Klinefelter syndrome ISO RGD:735782 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 8924544 Tacr3 tachykinin receptor 3 gene DOID:1924 hypogonadism ISO RGD:735782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079066 8924544 Tacr3 tachykinin receptor 3 gene DOID:3633 beta-mannosidosis ISO RGD:735782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 8924544 Tacr3 tachykinin receptor 3 gene DOID:630 genetic disease ISO RGD:735782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924544 Tacr3 tachykinin receptor 3 gene DOID:9000641 Pain ISO RGD:3810 D RGD:9068941 20200609 RGD PMID:19093101|REF_RGD_ID:2304256 8924544 Tacr3 tachykinin receptor 3 gene DOID:9001239 Delayed Puberty ISO RGD:735782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053 8924544 Tacr3 tachykinin receptor 3 gene DOID:9005372 Inflammation ISO RGD:3810 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:10891623|REF_RGD_ID:2305951 8924544 Tacr3 tachykinin receptor 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422838 8924544 Tacr3 tachykinin receptor 3 gene DOID:9006024 Hypotension ISO RGD:3810 D RGD:9068941 20200609 RGD PMID:18650316|REF_RGD_ID:2305929 8924559 Zkscan5 zinc finger with KRAB and SCAN domains 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8924559 Zkscan5 zinc finger with KRAB and SCAN domains 5 gene DOID:630 genetic disease ISO RGD:1322493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924571 Lama4 laminin subunit alpha 4 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476 8924571 Lama4 laminin subunit alpha 4 gene DOID:0050451 Brugada syndrome ISO RGD:1320894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868|PMID:28492532|PMID:28986455 8924571 Lama4 laminin subunit alpha 4 gene DOID:0050650 familial atrial fibrillation ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:25741868|PMID:28492532 8924571 Lama4 laminin subunit alpha 4 gene DOID:0050700 cardiomyopathy ISO RGD:1320894 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:17646580|PMID:20890277|PMID:23861362|PMID:24033266|PMID:24463507|PMID:24503780|PMID:25326637|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221|PMID:9536098 8924571 Lama4 laminin subunit alpha 4 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:25741868|PMID:28492532 8924571 Lama4 laminin subunit alpha 4 gene DOID:0060163 body dysmorphic disorder ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8924571 Lama4 laminin subunit alpha 4 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1320894 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 8924571 Lama4 laminin subunit alpha 4 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221 8924571 Lama4 laminin subunit alpha 4 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1320894 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:25741868 8924571 Lama4 laminin subunit alpha 4 gene DOID:0110226 Brugada syndrome 9 ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9 PMID:25741868|PMID:28492532 8924571 Lama4 laminin subunit alpha 4 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572 8924571 Lama4 laminin subunit alpha 4 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221 8924571 Lama4 laminin subunit alpha 4 gene DOID:0110438 dilated cardiomyopathy 1JJ ISO RGD:1320894 D RGD:7240710 20180130 OMIM 8924571 Lama4 laminin subunit alpha 4 gene DOID:0110438 dilated cardiomyopathy 1JJ ISO RGD:1320894 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ | ClinVar Annotator: match by term: LAMA4-related condition PMID:16199547|PMID:16204254|PMID:17576681|PMID:17646580|PMID:20890277|PMID:21822268|PMID:23274168|PMID:23861362|PMID:24033266|PMID:24121792|PMID:24463507|PMID:24503780|PMID:25326637|PMID:25741868|PMID:27532257|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28798025|PMID:28986455|PMID:29016939|PMID:29247119|PMID:30086531|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31514951|PMID:31527676|PMID:31534214|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33874732|PMID:36252119|PMID:9536098 8924571 Lama4 laminin subunit alpha 4 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S 8924571 Lama4 laminin subunit alpha 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8924571 Lama4 laminin subunit alpha 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28416588|PMID:28492532|PMID:31333075|PMID:31568572 8924571 Lama4 laminin subunit alpha 4 gene DOID:2843 long QT syndrome ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 8924571 Lama4 laminin subunit alpha 4 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1320894 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23861362|PMID:28492532|PMID:30847666 8924571 Lama4 laminin subunit alpha 4 gene DOID:630 genetic disease ISO RGD:1320894 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8924571 Lama4 laminin subunit alpha 4 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 8924571 Lama4 laminin subunit alpha 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:1320894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8924571 Lama4 laminin subunit alpha 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8924571 Lama4 laminin subunit alpha 4 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1320894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8924612 Ptgr3 prostaglandin reductase 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1320648 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8924612 Ptgr3 prostaglandin reductase 3 gene DOID:630 genetic disease ISO RGD:1320648 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924612 Ptgr3 prostaglandin reductase 3 gene DOID:6420 pulmonary valve stenosis ISO RGD:1320648 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8924612 Ptgr3 prostaglandin reductase 3 gene DOID:8445 intestinal volvulus ISO RGD:1320648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8924612 Ptgr3 prostaglandin reductase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8924612 Ptgr3 prostaglandin reductase 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1320648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8924618 Dolpp1 dolichyldiphosphatase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316643 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8924618 Dolpp1 dolichyldiphosphatase 1 gene DOID:630 genetic disease ISO RGD:1316643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924632 Prdm2 PR/SET domain 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1348506 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8924632 Prdm2 PR/SET domain 2 gene DOID:11054 urinary bladder cancer ISO RGD:1348506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8924632 Prdm2 PR/SET domain 2 gene DOID:630 genetic disease ISO RGD:1348506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924632 Prdm2 PR/SET domain 2 gene DOID:670 amphetamine abuse ISO RGD:1348506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8924632 Prdm2 PR/SET domain 2 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1348506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17103461 8924632 Prdm2 PR/SET domain 2 gene DOID:9006836 Contracture ISO RGD:1348506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:0050591 tooth agenesis ISO RGD:733110 D RGD:9068941 20200609 RGD DNA:SNPs:cds:c.261A>G(p.S87S),c.570A>T (p.R190S)(human) PMID:23079991|REF_RGD_ID:13446405 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:0050830 peripheral artery disease ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27082954 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:733110 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:0060912 craniosynostosis 7 ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 7 PMID:27606499 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:0080001 bone disease ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22023753 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:733110 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:733110 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:0110965 brachydactyly type A2 ISO RGD:733110 D RGD:7240710 20180130 OMIM 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:0110965 brachydactyly type A2 ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly type A2 PMID:19327734|PMID:21357617|PMID:25741868|PMID:28492532 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:0111029 hemochromatosis type 1 ISO RGD:733110 D RGD:7240710 20180130 OMIM 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:733110 D RGD:9068941 20200609 RGD PMID:15042598|REF_RGD_ID:2299981 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:733110 D RGD:9068941 20200609 RGD DNA:amplification:prostate gland PMID:17656261|REF_RGD_ID:2289030 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:733110 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16519147|REF_RGD_ID:1643592 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:10763 hypertension treatment ISO RGD:2211 D RGD:9068941 20230720 RGD PMID:33364953|REF_RGD_ID:329956421 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:11476 osteoporosis ISO RGD:733110 D RGD:9068941 20200609 RGD PMID:17002564|REF_RGD_ID:1625350 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:11830 myopia ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:12185 otosclerosis susceptibility ISO RGD:733110 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR:rs3178250(human) PMID:18021008|REF_RGD_ID:8698669 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:1324 lung cancer ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EGFR-related lung cancer PMID:21515830|PMID:24465802|PMID:26253951 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:13832 patent ductus arteriosus ISO RGD:733110 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: PDA1 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:182 calcinosis ISO RGD:733110 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30963258|PMID:31843813 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:2340 craniosynostosis ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23160099 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:2352 hemochromatosis ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:4676 uremia ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:630 genetic disease ISO RGD:733110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:8398 osteoarthritis susceptibility ISO RGD:733110 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2211 D RGD:9068941 20200609 RGD PMID:23770801|REF_RGD_ID:9068404 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16314833 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29800642 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9001547 Tibial Fractures ISO RGD:2211 D RGD:9068941 20200609 RGD protein:increased expression:tibia PMID:16651391|REF_RGD_ID:2289037 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9002371 Cardiotoxicity ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29800642 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9002589 Bone Fractures ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27394662 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:733110 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 1 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9004538 Hearing Loss ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30872814 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9004675 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies ISO RGD:733110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies PMID:25741868|PMID:28492532|PMID:29198724 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9004971 Right Ventricle Hypoplasia ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29800642 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9009129 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 ISO RGD:733110 D RGD:7240710 20190315 OMIM 8924655 Bmp2 bone morphogenetic protein 2 gene DOID:9009129 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 ISO RGD:733110 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 PMID:21671386|PMID:25741868|PMID:28492532|PMID:29198724|PMID:35227291 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:0080685 aortic dissection ISO RGD:1318449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:13241 Behcet's disease ISO RGD:1318449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:25741868 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:13406 pulmonary sarcoidosis severity ISO RGD:1318449 D RGD:9068941 20200609 RGD PMID:14641797|REF_RGD_ID:5024944 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:9068941 20200609 RGD PMID:19910030|REF_RGD_ID:5024945 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:9068941 20200609 RGD DNA:SNP: :rs3771166 (human) PMID:20860503|REF_RGD_ID:5024942 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318449 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:18382474|PMID:18774397|REF_RGD_ID:5024946|REF_RGD_ID:5024947 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:2841 asthma ISO RGD:1318450 D RGD:9068941 20200609 RGD PMID:11972614|REF_RGD_ID:5024948 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1318449 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15308504|REF_RGD_ID:4889841 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:417 autoimmune disease ISO RGD:1318450 D RGD:9068941 20200609 RGD PMID:15470078|REF_RGD_ID:5024943 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:630 genetic disease ISO RGD:1318449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1318449 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:26893476|REF_RGD_ID:11538094 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1318450 D RGD:9068941 20200609 RGD PMID:26893476|REF_RGD_ID:11538094 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:850 lung disease ISO RGD:1318449 D RGD:9068941 20200609 RGD Lung Injury;protein:increased expression:lung PMID:19265174|REF_RGD_ID:4889574 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:850 lung disease ISO RGD:1318450 D RGD:9068941 20200609 RGD Lung Injury PMID:19265174|REF_RGD_ID:4889574 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:1318449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8924667 Il18r1 interleukin 18 receptor 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1308589 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node PMID:19269041|REF_RGD_ID:2311529 8924684 Smg7 SMG7 nonsense mediated mRNA decay factor gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8924684 Smg7 SMG7 nonsense mediated mRNA decay factor gene DOID:1540 parathyroid carcinoma ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8924684 Smg7 SMG7 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1321852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924684 Smg7 SMG7 nonsense mediated mRNA decay factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8924684 Smg7 SMG7 nonsense mediated mRNA decay factor gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8924684 Smg7 SMG7 nonsense mediated mRNA decay factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8924737 Icoslg inducible T cell costimulator ligand gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1354040 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 8924737 Icoslg inducible T cell costimulator ligand gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1354040 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8924737 Icoslg inducible T cell costimulator ligand gene DOID:0110266 cataract 9 multiple types ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8924737 Icoslg inducible T cell costimulator ligand gene DOID:0111962 combined immunodeficiency ISO RGD:1354040 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25741868|PMID:30498080 8924737 Icoslg inducible T cell costimulator ligand gene DOID:10608 celiac disease ISO RGD:1354040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 8924737 Icoslg inducible T cell costimulator ligand gene DOID:12849 autistic disorder ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8924737 Icoslg inducible T cell costimulator ligand gene DOID:630 genetic disease ISO RGD:1354040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8924737 Icoslg inducible T cell costimulator ligand gene DOID:8577 ulcerative colitis ISO RGD:1354040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 8924737 Icoslg inducible T cell costimulator ligand gene DOID:891 progressive myoclonus epilepsy ISO RGD:1354040 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8924737 Icoslg inducible T cell costimulator ligand gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8924737 Icoslg inducible T cell costimulator ligand gene DOID:9263 homocystinuria ISO RGD:1354040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8924737 Icoslg inducible T cell costimulator ligand gene DOID:9562 primary ciliary dyskinesia ISO RGD:1354040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8924757 Tmod4 tropomodulin 4 gene DOID:0080422 Dravet syndrome ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8924757 Tmod4 tropomodulin 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8924757 Tmod4 tropomodulin 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8924757 Tmod4 tropomodulin 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8924757 Tmod4 tropomodulin 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8924757 Tmod4 tropomodulin 4 gene DOID:5812 MHC class II deficiency ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8924757 Tmod4 tropomodulin 4 gene DOID:630 genetic disease ISO RGD:1319001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924757 Tmod4 tropomodulin 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8924774 Faap24 FA core complex associated protein 24 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8924774 Faap24 FA core complex associated protein 24 gene DOID:630 genetic disease ISO RGD:1605898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924806 Adnp2 ADNP homeobox 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1605090 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8924806 Adnp2 ADNP homeobox 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8924806 Adnp2 ADNP homeobox 2 gene DOID:630 genetic disease ISO RGD:1605090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924806 Adnp2 ADNP homeobox 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1605090 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8924806 Adnp2 ADNP homeobox 2 gene DOID:8445 intestinal volvulus ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8924806 Adnp2 ADNP homeobox 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1605090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8924806 Adnp2 ADNP homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8924806 Adnp2 ADNP homeobox 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1605090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8924828 Zmym5 zinc finger MYM-type containing 5 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8924828 Zmym5 zinc finger MYM-type containing 5 gene DOID:630 genetic disease ISO RGD:1343268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924855 Upf3b UPF3B regulator of nonsense mediated mRNA decay gene DOID:0050437 Danon disease ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 8924855 Upf3b UPF3B regulator of nonsense mediated mRNA decay gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8924855 Upf3b UPF3B regulator of nonsense mediated mRNA decay gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1346078 D RGD:7240710 20190619 OMIM 8924855 Upf3b UPF3B regulator of nonsense mediated mRNA decay gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1346078 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:17576681|PMID:17704778|PMID:18414213|PMID:19238151|PMID:22957832|PMID:25741868|PMID:26012578|PMID:26350204|PMID:28492532|PMID:31737052|PMID:9536098 8924855 Upf3b UPF3B regulator of nonsense mediated mRNA decay gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1346078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8924855 Upf3b UPF3B regulator of nonsense mediated mRNA decay gene DOID:1059 intellectual disability ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8924855 Upf3b UPF3B regulator of nonsense mediated mRNA decay gene DOID:12849 autistic disorder ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8924855 Upf3b UPF3B regulator of nonsense mediated mRNA decay gene DOID:630 genetic disease ISO RGD:1346078 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26012578|PMID:26350204|PMID:28492532 8924855 Upf3b UPF3B regulator of nonsense mediated mRNA decay gene DOID:83 cataract ISO RGD:1346078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 8924855 Upf3b UPF3B regulator of nonsense mediated mRNA decay gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8924855 Upf3b UPF3B regulator of nonsense mediated mRNA decay gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1346078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704778 8924879 Tsga10 testis specific 10 gene DOID:0111924 spermatogenic failure 26 ISO RGD:731470 D RGD:7240710 20190315 OMIM 8924879 Tsga10 testis specific 10 gene DOID:0111924 spermatogenic failure 26 ISO RGD:731470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 26 PMID:28905369 8924879 Tsga10 testis specific 10 gene DOID:630 genetic disease ISO RGD:731470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924926 Lman1l lectin, mannose binding 1 like gene DOID:10283 prostate cancer ISO RGD:1321499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8924926 Lman1l lectin, mannose binding 1 like gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1321499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8924926 Lman1l lectin, mannose binding 1 like gene DOID:2717 Bloom syndrome ISO RGD:1321499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8924926 Lman1l lectin, mannose binding 1 like gene DOID:5419 schizophrenia ISO RGD:1321499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8924926 Lman1l lectin, mannose binding 1 like gene DOID:630 genetic disease ISO RGD:1321499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924926 Lman1l lectin, mannose binding 1 like gene DOID:9256 colorectal cancer ISO RGD:1321499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8924944 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8924944 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1602711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8924944 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1602711 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8924944 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8924944 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8924944 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8924944 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:630 genetic disease ISO RGD:1602711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8924944 Cend1 cell cycle exit and neuronal differentiation 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1602711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8924957 Tbxa2r thromboxane A2 receptor gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 8924957 Tbxa2r thromboxane A2 receptor gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:735834 D RGD:9068941 20200609 RGD DNA:polymorphism: :795T>C (human) PMID:15898979|REF_RGD_ID:11059537 8924957 Tbxa2r thromboxane A2 receptor gene DOID:1074 kidney failure treatment ISO RGD:3825 D RGD:9068941 20200609 RGD associated with Cholestasis; PMID:9893136|REF_RGD_ID:11059601 8924957 Tbxa2r thromboxane A2 receptor gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:1934328|REF_RGD_ID:11059533 8924957 Tbxa2r thromboxane A2 receptor gene DOID:14115 toxic shock syndrome treatment ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:7816742|REF_RGD_ID:11059599 8924957 Tbxa2r thromboxane A2 receptor gene DOID:1588 thrombocytopenia ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:2528013|REF_RGD_ID:11059527 8924957 Tbxa2r thromboxane A2 receptor gene DOID:1588 thrombocytopenia ISO RGD:733229 D RGD:9068941 20200609 RGD PMID:2528013|REF_RGD_ID:11059527 8924957 Tbxa2r thromboxane A2 receptor gene DOID:2213 hemorrhagic disease ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19828703 8924957 Tbxa2r thromboxane A2 receptor gene DOID:2218 blood platelet disease ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19828703|PMID:7929844 8924957 Tbxa2r thromboxane A2 receptor gene DOID:2218 blood platelet disease ISO RGD:735834 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.R60L(human) PMID:7929844|REF_RGD_ID:1578439 8924957 Tbxa2r thromboxane A2 receptor gene DOID:2841 asthma ISO RGD:735834 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Asthma PMID:2955539|PMID:7929844|PMID:8428006|PMID:8613548 8924957 Tbxa2r thromboxane A2 receptor gene DOID:2841 asthma severity ISO RGD:735834 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:924T>C(human) PMID:15805995|REF_RGD_ID:11059534 8924957 Tbxa2r thromboxane A2 receptor gene DOID:2841 asthma susceptibility ISO RGD:735834 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:924T>C(human) PMID:12000493|REF_RGD_ID:11059535 8924957 Tbxa2r thromboxane A2 receptor gene DOID:4483 rhinitis ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12167471 8924957 Tbxa2r thromboxane A2 receptor gene DOID:630 genetic disease ISO RGD:735834 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9003657 Perennial Allergic Rhinitis treatment ISO RGD:735834 D RGD:9068941 20200609 RGD PMID:15247523|REF_RGD_ID:11059532 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9003871 Venous Thrombosis treatment ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:7848332|REF_RGD_ID:11059887 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9004283 Transplant Rejection ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:7964472|REF_RGD_ID:11059606 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9005302 Platelet-Type Bleeding Disorder 13 ISO RGD:735834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR | ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 13, susceptibility to | ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation PMID:19828703|PMID:22517902|PMID:25741868|PMID:28492532|PMID:2955539|PMID:31064749|PMID:7929844|PMID:8428006|PMID:8613548 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9005302 Platelet-Type Bleeding Disorder 13 susceptibility ISO RGD:735834 D RGD:7240710 20190502 OMIM 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9005749 Necrosis ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22206755 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9005930 Endotoxemia ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:15647606|PMID:2580129|REF_RGD_ID:11059531|REF_RGD_ID:1601450 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:3825 D RGD:9068941 20200609 RGD PMID:11341608|REF_RGD_ID:11059600 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22206755 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9477 pulmonary embolism ISO RGD:735834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740511 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9498 pulmonary eosinophilia treatment ISO RGD:733229 D RGD:9068941 20200609 RGD PMID:22802632|REF_RGD_ID:11059529 8924957 Tbxa2r thromboxane A2 receptor gene DOID:9970 obesity ISO RGD:733229 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:12409963|REF_RGD_ID:1601447 8924965 Mpdz multiple PDZ domain crumbs cell polarity complex component gene DOID:0050563 nonsyndromic deafness ISO RGD:737285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing impairment PMID:28492532 8924965 Mpdz multiple PDZ domain crumbs cell polarity complex component gene DOID:0060041 autism spectrum disorder ISO RGD:737285 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8924965 Mpdz multiple PDZ domain crumbs cell polarity complex component gene DOID:10908 hydrocephalus ISO RGD:737285 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:23240096|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28556411 8924965 Mpdz multiple PDZ domain crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:737285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28135719|PMID:28492532|PMID:29499638|PMID:29924831|PMID:9536098 8924965 Mpdz multiple PDZ domain crumbs cell polarity complex component gene DOID:9006616 Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies ISO RGD:737285 D RGD:7240710 20180130 OMIM 8924965 Mpdz multiple PDZ domain crumbs cell polarity complex component gene DOID:9006616 Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies ISO RGD:737285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 | ClinVar Annotator: match by term: MPDZ-related condition PMID:16199547|PMID:17576681|PMID:18414213|PMID:23240096|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28556411|PMID:29499638|PMID:32860008|PMID:9536098 8925022 Alkbh4 alkB homolog 4, lysine demethylase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8925022 Alkbh4 alkB homolog 4, lysine demethylase gene DOID:630 genetic disease ISO RGD:1603303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925031 Haspin histone H3 associated protein kinase gene DOID:3613 Canavan disease ISO RGD:1353091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 8925031 Haspin histone H3 associated protein kinase gene DOID:630 genetic disease ISO RGD:1353091 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925038 Ddx47 DEAD-box helicase 47 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1321338 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8925038 Ddx47 DEAD-box helicase 47 gene DOID:1059 intellectual disability ISO RGD:1321338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8925038 Ddx47 DEAD-box helicase 47 gene DOID:630 genetic disease ISO RGD:1321338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925057 Dclk2 doublecortin like kinase 2 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1348460 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 PMID:24088041|PMID:25741868|PMID:31690835 8925057 Dclk2 doublecortin like kinase 2 gene DOID:630 genetic disease ISO RGD:1348460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925102 Rd3l RD3 like gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:5683670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8925112 Pdpk1 3-phosphoinositide dependent protein kinase 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 8925112 Pdpk1 3-phosphoinositide dependent protein kinase 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8925112 Pdpk1 3-phosphoinositide dependent protein kinase 1 gene DOID:10283 prostate cancer treatment ISO RGD:732664 D RGD:9068941 20200609 RGD PMID:26294745|REF_RGD_ID:11534031 8925112 Pdpk1 3-phosphoinositide dependent protein kinase 1 gene DOID:1826 epilepsy ISO RGD:732664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8925112 Pdpk1 3-phosphoinositide dependent protein kinase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732664 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8925112 Pdpk1 3-phosphoinositide dependent protein kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732665 D RGD:9068941 20200609 RGD PMID:17562488|REF_RGD_ID:13506808 8925112 Pdpk1 3-phosphoinositide dependent protein kinase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732664 D RGD:9068941 20200609 RGD mRNA:increased expression:blood serum PMID:25064732|REF_RGD_ID:13503320 8925112 Pdpk1 3-phosphoinositide dependent protein kinase 1 gene DOID:6000 congestive heart failure ISO RGD:732664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429709 8925112 Pdpk1 3-phosphoinositide dependent protein kinase 1 gene DOID:630 genetic disease ISO RGD:732664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925112 Pdpk1 3-phosphoinositide dependent protein kinase 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732664 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma;mRNA:increased expression:blood serum PMID:25064732|REF_RGD_ID:13503320 8925112 Pdpk1 3-phosphoinositide dependent protein kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24739482 8925140 CUNH17orf107 chromosome unknown C17orf107 homolog gene DOID:0050941 spastic ataxia 2 ISO RGD:3051040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 8925140 CUNH17orf107 chromosome unknown C17orf107 homolog gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:3051040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:17878953|PMID:26467025|PMID:28492532|PMID:8755487 8925140 CUNH17orf107 chromosome unknown C17orf107 homolog gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:3051040 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel PMID:10496269|PMID:10514102|PMID:10534268|PMID:15322984|PMID:15367858|PMID:20301347|PMID:20562457|PMID:22678886|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28492532|PMID:29054425|PMID:29383513|PMID:9097970|PMID:9668239|PMID:9708546 8925140 CUNH17orf107 chromosome unknown C17orf107 homolog gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:3051040 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel PMID:10211467|PMID:10382905|PMID:10496269|PMID:10514102|PMID:10534268|PMID:11960891|PMID:12356851|PMID:12417530|PMID:14532324|PMID:15322984|PMID:15367858|PMID:17878953|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21940170|PMID:22592360|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8232384|PMID:8663316|PMID:8755487|PMID:9097970|PMID:9158150|PMID:9606190|PMID:9668239|PMID:9708546 8925140 CUNH17orf107 chromosome unknown C17orf107 homolog gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:3051040 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel PMID:10211467|PMID:10382905|PMID:10496269|PMID:10514102|PMID:10534268|PMID:11960891|PMID:12034803|PMID:12141316|PMID:12356851|PMID:12417530|PMID:12536367|PMID:14532324|PMID:14592868|PMID:15145336|PMID:15322984|PMID:15367858|PMID:16061559|PMID:16087917|PMID:16198106|PMID:16199547|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19153382|PMID:19289485|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21520333|PMID:21822932|PMID:21940170|PMID:22178625|PMID:22382357|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27634344|PMID:27717316|PMID:27779167|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29367459|PMID:29383513|PMID:29702980|PMID:30124556|PMID:30542963|PMID:30931400|PMID:31589614|PMID:31773638|PMID:31980526|PMID:32721234|PMID:32727330|PMID:35628876|PMID:36099689|PMID:3651795|PMID:7531341|PMID:7538206|PMID:7863154|PMID:8232384|PMID:8663316|PMID:8755487|PMID:8872460|PMID:9097970|PMID:9158150|PMID:9536098|PMID:9539130|PMID:9606190|PMID:9668239|PMID:9708546 8925140 CUNH17orf107 chromosome unknown C17orf107 homolog gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:3051040 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency PMID:10211467|PMID:10496269|PMID:10514102|PMID:10534268|PMID:11030414|PMID:12417530|PMID:14532324|PMID:15322984|PMID:15367858|PMID:16087917|PMID:17576681|PMID:17878953|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21940170|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:30124556|PMID:31980526|PMID:8232384|PMID:8755487|PMID:9097970|PMID:9158150|PMID:9536098|PMID:9668239|PMID:9708546 8925140 CUNH17orf107 chromosome unknown C17orf107 homolog gene DOID:3635 congenital myasthenic syndrome ISO RGD:3051040 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:10496269|PMID:10514102|PMID:10534268|PMID:12141316|PMID:12356851|PMID:12417530|PMID:12536367|PMID:14532324|PMID:15322984|PMID:15367858|PMID:16199547|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19153382|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21940170|PMID:22382357|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27634344|PMID:27717316|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31773638|PMID:31980526|PMID:32727330|PMID:36099689|PMID:8755487|PMID:9097970|PMID:9158150|PMID:9536098|PMID:9539130|PMID:9668239|PMID:9708546 8925140 CUNH17orf107 chromosome unknown C17orf107 homolog gene DOID:630 genetic disease ISO RGD:3051040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8925155 Garin5b golgi associated RAB2 interactor family member 5B gene DOID:630 genetic disease ISO RGD:1348410 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925172 Ndufb4 NADH:ubiquinone oxidoreductase subunit B4 gene DOID:630 genetic disease ISO RGD:1316046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925172 Ndufb4 NADH:ubiquinone oxidoreductase subunit B4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1316046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8925184 Znf354c zinc finger protein 354C gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:736972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 8925184 Znf354c zinc finger protein 354C gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:736972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8925184 Znf354c zinc finger protein 354C gene DOID:14748 Sotos syndrome ISO RGD:736972 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8925184 Znf354c zinc finger protein 354C gene DOID:630 genetic disease ISO RGD:736972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925185 Atp10d ATPase phospholipid transporting 10D (putative) gene DOID:630 genetic disease ISO RGD:1316047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925185 Atp10d ATPase phospholipid transporting 10D (putative) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316047 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8925212 Strbp spermatid perinuclear RNA binding protein gene DOID:3910 lung adenocarcinoma ISO RGD:1352738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8925212 Strbp spermatid perinuclear RNA binding protein gene DOID:630 genetic disease ISO RGD:1352738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925212 Strbp spermatid perinuclear RNA binding protein gene DOID:9006205 Animal Disease Models ISO RGD:1352738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8925249 Cmc2 C-X9-C motif containing 2 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1601986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 8925249 Cmc2 C-X9-C motif containing 2 gene DOID:630 genetic disease ISO RGD:1601986 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925249 Cmc2 C-X9-C motif containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1601986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 8925274 Dnaaf2 dynein axonemal assembly factor 2 gene DOID:0050144 Kartagener syndrome ISO RGD:1321142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:19052621|PMID:24498942 8925274 Dnaaf2 dynein axonemal assembly factor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321142 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8925274 Dnaaf2 dynein axonemal assembly factor 2 gene DOID:0070253 congenital disorder of glycosylation type IIa ISO RGD:1321142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa PMID:28492532 8925274 Dnaaf2 dynein axonemal assembly factor 2 gene DOID:0110612 primary ciliary dyskinesia 10 ISO RGD:1321142 D RGD:7240710 20190315 OMIM 8925274 Dnaaf2 dynein axonemal assembly factor 2 gene DOID:0110612 primary ciliary dyskinesia 10 ISO RGD:1321142 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: DNAAF2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 PMID:19052621|PMID:24033266|PMID:24498942|PMID:25741868|PMID:28492532|PMID:32638265 8925274 Dnaaf2 dynein axonemal assembly factor 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1321142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 8925274 Dnaaf2 dynein axonemal assembly factor 2 gene DOID:630 genetic disease ISO RGD:1321142 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8925274 Dnaaf2 dynein axonemal assembly factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321142 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8925274 Dnaaf2 dynein axonemal assembly factor 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321142 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:17576681|PMID:19052621|PMID:24033266|PMID:24498942|PMID:25741868|PMID:28492532|PMID:32719396|PMID:9536098 8925291 Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:0080600 COVID-19 ISO RGD:1605852 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8925291 Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:630 genetic disease ISO RGD:1605852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925291 Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss susceptibility ISO RGD:1605852 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs35725509(human) PMID:27311106|REF_RGD_ID:11252147 8925291 Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 gene DOID:9008681 Deafness ISO RGD:1605852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27311106 8925307 Aqp8 aquaporin 8 gene DOID:2316 brain ischemia ISO RGD:2146 D RGD:9068941 20200609 RGD PMID:19616516|REF_RGD_ID:5490152 8925307 Aqp8 aquaporin 8 gene DOID:630 genetic disease ISO RGD:737411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925317 Fancm FA complementation group M gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1317358 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 8925317 Fancm FA complementation group M gene DOID:0080872 primary ovarian insufficiency 15 ISO RGD:1317358 D RGD:7240710 20200101 OMIM 8925317 Fancm FA complementation group M gene DOID:0080872 primary ovarian insufficiency 15 ISO RGD:1317358 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 15 | ClinVar Annotator: match by term: Premature ovarian failure 15 PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26822949|PMID:27713038|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837162|PMID:28881617|PMID:29217778|PMID:29231814|PMID:29351780|PMID:29895858|PMID:30075111|PMID:30426508|PMID:31263571|PMID:31428572|PMID:31589614|PMID:31700994|PMID:32054657|PMID:32338768|PMID:32566746|PMID:32906206|PMID:33099839|PMID:33471991|PMID:34117267|PMID:34598035|PMID:36534659 8925317 Fancm FA complementation group M gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1317358 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:17289582|PMID:18174376|PMID:19379763|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26822949|PMID:28033443|PMID:28492532|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29351780|PMID:30075111|PMID:30426508|PMID:31263571|PMID:31589614|PMID:31700994|PMID:32054657|PMID:32338768|PMID:33099839|PMID:33471991|PMID:34117267 8925317 Fancm FA complementation group M gene DOID:0111916 spermatogenic failure 28 ISO RGD:1317358 D RGD:7240710 20190315 OMIM 8925317 Fancm FA complementation group M gene DOID:0111916 spermatogenic failure 28 ISO RGD:1317358 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 28 PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27713038|PMID:28033443|PMID:28492532|PMID:28591191|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29217778|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29760528|PMID:29895858|PMID:30075111|PMID:30158692|PMID:30426508|PMID:30927251|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31589614|PMID:31700994|PMID:31921681|PMID:31991861|PMID:32054657|PMID:32235514|PMID:32268276|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:33099839|PMID:33118316|PMID:33471991|PMID:34117267|PMID:34174131|PMID:34326862|PMID:34598035|PMID:35495172|PMID:35929646|PMID:36534659|PMID:37316882|PMID:9536098 8925317 Fancm FA complementation group M gene DOID:12449 aplastic anemia ISO RGD:1317358 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868|PMID:26467025|PMID:28492532|PMID:28881617|PMID:29351780|PMID:33471991 8925317 Fancm FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26067930|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27913932|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30676620|PMID:30995915|PMID:31700994|PMID:31991861|PMID:32566746|PMID:9536098 8925317 Fancm FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:33471991|PMID:34174131|PMID:9536098 8925317 Fancm FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25640679|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28702895|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131|PMID:9536098 8925317 Fancm FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27854218|PMID:27913932|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32427313|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33471991|PMID:34174131|PMID:9536098 8925317 Fancm FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22406018|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27913932|PMID:28033443|PMID:28492532|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32427313|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33471991|PMID:34174131|PMID:9536098 8925317 Fancm FA complementation group M gene DOID:13636 Fanconi anemia ISO RGD:1317358 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16199547|PMID:17289582|PMID:17576681|PMID:18174376|PMID:18414213|PMID:19379763|PMID:19737859|PMID:19763152|PMID:20307669|PMID:21681190|PMID:22347400|PMID:22406018|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26094658|PMID:26130695|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26822949|PMID:27626068|PMID:27713038|PMID:27913932|PMID:28033443|PMID:28492532|PMID:28591191|PMID:2867840|PMID:28678401|PMID:28702895|PMID:28715532|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:28975465|PMID:29217778|PMID:29231814|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29760528|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30927251|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31589614|PMID:31700994|PMID:31921681|PMID:31970404|PMID:31991861|PMID:32054657|PMID:32235514|PMID:32268276|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32868804|PMID:32906206|PMID:32994724|PMID:33099839|PMID:33118316|PMID:33163394|PMID:33471991|PMID:34117267|PMID:34174131|PMID:34326862|PMID:34598035|PMID:35495172|PMID:35877578|PMID:35929646|PMID:36315097|PMID:36534659|PMID:37316882|PMID:9536098 8925317 Fancm FA complementation group M gene DOID:14227 azoospermia ISO RGD:1317358 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26467025|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31700994|PMID:31991861|PMID:32235514|PMID:33118316|PMID:33471991|PMID:34117267 8925317 Fancm FA complementation group M gene DOID:2155 malignant ovarian germ cell neoplasm ISO RGD:1317358 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant germ cell tumor of ovary PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26467025|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31700994|PMID:31991861|PMID:32235514|PMID:33118316|PMID:33471991|PMID:34117267 8925317 Fancm FA complementation group M gene DOID:3883 Lynch syndrome ISO RGD:1317358 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25741868|PMID:26130695|PMID:26467025|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31700994|PMID:31991861|PMID:32235514|PMID:33118316|PMID:33471991|PMID:34117267 8925317 Fancm FA complementation group M gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 8925317 Fancm FA complementation group M gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317358 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17576681|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28881617|PMID:29760528|PMID:31428572|PMID:31921681|PMID:32566746|PMID:33471991|PMID:36534659|PMID:9536098 8925317 Fancm FA complementation group M gene DOID:630 genetic disease ISO RGD:1317358 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:31428572|PMID:32566746|PMID:33471991|PMID:36534659 8925317 Fancm FA complementation group M gene DOID:687 hepatoblastoma ISO RGD:1317358 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:26467025|PMID:28492532|PMID:28678401|PMID:28881617|PMID:29351780|PMID:32522261|PMID:35495172 8925317 Fancm FA complementation group M gene DOID:768 retinoblastoma ISO RGD:1317358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868 8925317 Fancm FA complementation group M gene DOID:9002912 Fanconi Anemia Complementation Group M ISO RGD:1317358 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group M PMID:16116422|PMID:19423727|PMID:19737859|PMID:25741868|PMID:28492532|PMID:33471991 8925317 Fancm FA complementation group M gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317358 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8925317 Fancm FA complementation group M gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317358 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131 8925317 Fancm FA complementation group M gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26822949|PMID:27626068|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33471991|PMID:34174131 8925317 Fancm FA complementation group M gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317358 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17289582|PMID:18174376|PMID:19379763|PMID:19737859|PMID:21681190|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26689913|PMID:26822949|PMID:27626068|PMID:27713038|PMID:28033443|PMID:28492532|PMID:28678401|PMID:28717660|PMID:28837157|PMID:28837162|PMID:28881617|PMID:29217778|PMID:29287190|PMID:29351780|PMID:29625052|PMID:29641532|PMID:29895858|PMID:30075111|PMID:30426508|PMID:30613976|PMID:30995915|PMID:31263571|PMID:31428572|PMID:31589614|PMID:31700994|PMID:31991861|PMID:32235514|PMID:32268276|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32868804|PMID:32906206|PMID:33099839|PMID:33471991|PMID:34174131|PMID:35495172|PMID:36534659 8925317 Fancm FA complementation group M gene DOID:9008952 Breast Cancer, Familial ISO RGD:1317358 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17289582|PMID:18174376|PMID:19379763|PMID:23409019|PMID:23932590|PMID:24003026|PMID:25288723|PMID:25741868|PMID:26130695|PMID:26467025|PMID:26822949|PMID:28033443|PMID:28492532|PMID:28591191|PMID:28702895|PMID:28837162|PMID:29231814|PMID:29287190|PMID:30075111|PMID:30426508|PMID:30927251|PMID:31263571|PMID:31589614|PMID:31700994|PMID:31991861|PMID:32054657|PMID:32235514|PMID:32338768|PMID:33099839|PMID:33118316|PMID:33471991|PMID:34117267 8925356 Mtg1 mitochondrial ribosome associated GTPase 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1603933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8925356 Mtg1 mitochondrial ribosome associated GTPase 1 gene DOID:630 genetic disease ISO RGD:1603933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925384 Tubgcp4 tubulin gamma complex component 4 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1603663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8925384 Tubgcp4 tubulin gamma complex component 4 gene DOID:0080107 microcephaly and chorioretinopathy 3 ISO RGD:1603663 D RGD:7240710 20180130 OMIM 8925384 Tubgcp4 tubulin gamma complex component 4 gene DOID:0080107 microcephaly and chorioretinopathy 3 ISO RGD:1603663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 PMID:16199547|PMID:24033266|PMID:25741868|PMID:25817018|PMID:28492532 8925384 Tubgcp4 tubulin gamma complex component 4 gene DOID:2717 Bloom syndrome ISO RGD:1603663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8925384 Tubgcp4 tubulin gamma complex component 4 gene DOID:630 genetic disease ISO RGD:1603663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8925384 Tubgcp4 tubulin gamma complex component 4 gene DOID:9256 colorectal cancer ISO RGD:1603663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8925452 Gde1 glycerophosphodiester phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:734410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925462 Polr2g RNA polymerase II subunit G gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:733856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8925462 Polr2g RNA polymerase II subunit G gene DOID:1059 intellectual disability ISO RGD:733856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8925462 Polr2g RNA polymerase II subunit G gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8925478 Yipf1 Yip1 domain family member 1 gene DOID:630 genetic disease ISO RGD:1604013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925503 Mvb12b multivesicular body subunit 12B gene DOID:630 genetic disease ISO RGD:1320196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925503 Mvb12b multivesicular body subunit 12B gene DOID:9467 nail-patella syndrome ISO RGD:1320196 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nail-patella syndrome PMID:18414507 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1315336 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:25741868|PMID:28492532|PMID:30311386|PMID:32376792|PMID:34837038 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0070152 hereditary sensory and autonomic neuropathy type 1A ISO RGD:1315336 D RGD:7240710 20180130 OMIM 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0070152 hereditary sensory and autonomic neuropathy type 1A ISO RGD:1315336 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1A | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type IA, severe PMID:11242106|PMID:11242114|PMID:11479835|PMID:11781309|PMID:12417569|PMID:13646503|PMID:14152213|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:17576681|PMID:18018475|PMID:18077166|PMID:19132419|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24673574|PMID:24711860|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:31509666|PMID:32399692|PMID:32581362|PMID:34059824|PMID:34459874|PMID:34986032|PMID:36966328|PMID:8673084|PMID:9536098 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1315336 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:11242106|PMID:11242114|PMID:11479835|PMID:11781309|PMID:12417569|PMID:13646503|PMID:14152213|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16199547|PMID:16210380|PMID:16364956|PMID:17576681|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24088041|PMID:24247255|PMID:24604904|PMID:24673574|PMID:24711860|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30373780|PMID:30420926|PMID:31509666|PMID:31742231|PMID:32376792|PMID:32399692|PMID:32581362|PMID:33879512|PMID:34103343|PMID:34190362|PMID:34459874|PMID:34986032|PMID:36966328|PMID:8673084|PMID:9536098 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1315336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 ISO RGD:1315336 D RGD:7240710 20230505 OMIM 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 ISO RGD:1315336 D RGD:8554872 20240102 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 27, juvenile PMID:19651702|PMID:21618344|PMID:23454272|PMID:24247255|PMID:25741868|PMID:26681808|PMID:28492532|PMID:34059824|PMID:34459874|PMID:36204986 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11242106|PMID:11242114|PMID:11479835|PMID:12417569|PMID:13646503|PMID:14152213|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24604904|PMID:24673574|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:28166811|PMID:28492532|PMID:31509666|PMID:32376792|PMID:32581362 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315336 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11242106|PMID:11242114|PMID:11479835|PMID:11781309|PMID:12417569|PMID:13646503|PMID:14152213|PMID:14990347|PMID:15037712|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19555464|PMID:19651702|PMID:19923297|PMID:20097765|PMID:20301564|PMID:20504773|PMID:21618344|PMID:22302274|PMID:23454272|PMID:24247255|PMID:24604904|PMID:24673574|PMID:24711860|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:31509666|PMID:32376792|PMID:32399692|PMID:32581362|PMID:34103343|PMID:34459874|PMID:34986032|PMID:8673084 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:10907 microcephaly ISO RGD:1315336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1315336 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:33879512|PMID:34059824 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:630 genetic disease ISO RGD:1315336 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11242106|PMID:11242114|PMID:11781309|PMID:12417569|PMID:13646503|PMID:15037712|PMID:15546589|PMID:19132419|PMID:20097765|PMID:20301564|PMID:24673574|PMID:24711860|PMID:25042817|PMID:25584079|PMID:25741868|PMID:26467025|PMID:26681808|PMID:27164712|PMID:28492532|PMID:30420926|PMID:31509666|PMID:32376792|PMID:32399692|PMID:34103343|PMID:34986032|PMID:36966328|PMID:8673084 8925516 Sptlc1 serine palmitoyltransferase long chain base subunit 1 gene DOID:9277 primary cerebellar degeneration ISO RGD:1315336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:11242106|PMID:11242114|PMID:11479835|PMID:14152213|PMID:14990347|PMID:15546589|PMID:16210380|PMID:16364956|PMID:18018475|PMID:19132419|PMID:19923297|PMID:20301564|PMID:20504773|PMID:22302274|PMID:25741868|PMID:26681808|PMID:28492532|PMID:32581362 8925540 Zfyve21 zinc finger FYVE-type containing 21 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1322277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8925540 Zfyve21 zinc finger FYVE-type containing 21 gene DOID:3393 coronary artery disease ISO RGD:1322277 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Premature coronary artery atherosclerosis PMID:25741868 8925540 Zfyve21 zinc finger FYVE-type containing 21 gene DOID:630 genetic disease ISO RGD:1322277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925570 Ccdc106 coiled-coil domain containing 106 gene DOID:630 genetic disease ISO RGD:1607037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925589 Stx6 syntaxin 6 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8925589 Stx6 syntaxin 6 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:731983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 8925589 Stx6 syntaxin 6 gene DOID:1540 parathyroid carcinoma ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8925589 Stx6 syntaxin 6 gene DOID:630 genetic disease ISO RGD:731983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925589 Stx6 syntaxin 6 gene DOID:678 progressive supranuclear palsy ISO RGD:731983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685912 8925589 Stx6 syntaxin 6 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8925589 Stx6 syntaxin 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8925601 Eif4e2 eukaryotic translation initiation factor 4E family member 2 gene DOID:0060476 Perlman syndrome ISO RGD:1348644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8925601 Eif4e2 eukaryotic translation initiation factor 4E family member 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8925601 Eif4e2 eukaryotic translation initiation factor 4E family member 2 gene DOID:630 genetic disease ISO RGD:1348644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925626 Fam98c family with sequence similarity 98 member C gene DOID:0060041 autism spectrum disorder ISO RGD:1604231 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder 8925626 Fam98c family with sequence similarity 98 member C gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1604231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 8925626 Fam98c family with sequence similarity 98 member C gene DOID:630 genetic disease ISO RGD:1604231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925658 Dr1 down-regulator of transcription 1 gene DOID:630 genetic disease ISO RGD:1313088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925671 Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1313320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8925671 Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:303 substance-related disorder ISO RGD:1313320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8925671 Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:630 genetic disease ISO RGD:1313320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925671 Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1313320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8925710 Clmn calmin gene DOID:630 genetic disease ISO RGD:1315532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1350336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:0080322 polycystic kidney disease ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:18606867|REF_RGD_ID:7241222 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:1059 intellectual disability ISO RGD:1350336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:10608 celiac disease ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:10941 intracranial aneurysm no_association ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:11546917|REF_RGD_ID:1582365 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:10983 Alport syndrome ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:16816359|REF_RGD_ID:7241212 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:12704 ataxia telangiectasia ISO RGD:1350336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:13139 crescentic glomerulonephritis ISO RGD:620195 D RGD:9068941 20200609 RGD PMID:12626598|PMID:20488952|REF_RGD_ID:2325762|REF_RGD_ID:737630 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350336 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:14323 Marfan syndrome ISO RGD:1350336 D RGD:9068941 20200609 RGD associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:2349 arteriosclerosis ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:15073384|REF_RGD_ID:1582361 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:2349 arteriosclerosis ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:16221765|REF_RGD_ID:1582354 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1350336 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-82A>G (human) PMID:19628284|REF_RGD_ID:13204795 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:3362 coronary aneurysm susceptibility ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:12103254|REF_RGD_ID:1582363 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:10807873|REF_RGD_ID:1582366 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:11576837|REF_RGD_ID:2290421 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:620195 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1350336 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-82A>G rs2276109 (human) PMID:19321798|REF_RGD_ID:7207058 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:630 genetic disease ISO RGD:1350336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:7148 rheumatoid arthritis ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:16115023|REF_RGD_ID:1582355 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:7693 abdominal aortic aneurysm no_association ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:16082623|REF_RGD_ID:1582356 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:820 myocarditis ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:16533694|REF_RGD_ID:1582352 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1350336 D RGD:9068941 20200609 RGD PMID:21277817|REF_RGD_ID:7241216 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620195 D RGD:9068941 20200609 RGD PMID:12783419|REF_RGD_ID:1582362 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:732694 D RGD:9068941 20200609 RGD PMID:15654856|REF_RGD_ID:1582358 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:9002928 Colonic Neoplasms ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:9004657 Weight Gain ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:9007096 Stroke ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:9206 Barrett's esophagus ISO RGD:1350336 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-82A>G rs2276109 (human) PMID:19321798|REF_RGD_ID:7207058 8925741 Mmp12 matrix metallopeptidase 12 gene DOID:9675 pulmonary emphysema ISO RGD:1350336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12634787|PMID:25106431 8925769 Aplf aprataxin and PNKP like factor gene DOID:630 genetic disease ISO RGD:1344091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925791 Spsb4 splA/ryanodine receptor domain and SOCS box containing 4 gene DOID:630 genetic disease ISO RGD:1603370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925791 Spsb4 splA/ryanodine receptor domain and SOCS box containing 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8925804 Tmem107 transmembrane protein 107 gene DOID:0050450 Gitelman syndrome ISO RGD:1603948 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia PMID:25741868|PMID:27571260 8925804 Tmem107 transmembrane protein 107 gene DOID:0070115 Meckel syndrome 1 ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:25741868|PMID:27571260 8925804 Tmem107 transmembrane protein 107 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8925804 Tmem107 transmembrane protein 107 gene DOID:0080253 Meckel syndrome 13 ISO RGD:1603948 D RGD:7240710 20190315 OMIM 8925804 Tmem107 transmembrane protein 107 gene DOID:0080253 Meckel syndrome 13 ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome 13 PMID:25741868|PMID:26123494|PMID:26595381 8925804 Tmem107 transmembrane protein 107 gene DOID:0080254 orofaciodigital syndrome XVI ISO RGD:1603948 D RGD:7240710 20190315 OMIM 8925804 Tmem107 transmembrane protein 107 gene DOID:0080254 orofaciodigital syndrome XVI ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVI PMID:25741868|PMID:26595381 8925804 Tmem107 transmembrane protein 107 gene DOID:0080600 COVID-19 ISO RGD:1603948 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8925804 Tmem107 transmembrane protein 107 gene DOID:12177 common variable immunodeficiency ISO RGD:1603948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8925804 Tmem107 transmembrane protein 107 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603948 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8925804 Tmem107 transmembrane protein 107 gene DOID:2729 dyskeratosis congenita ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8925804 Tmem107 transmembrane protein 107 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8925804 Tmem107 transmembrane protein 107 gene DOID:630 genetic disease ISO RGD:1603948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925804 Tmem107 transmembrane protein 107 gene DOID:9003124 Labrune Syndrome ISO RGD:1603948 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts PMID:25741868|PMID:27571260|PMID:28177126|PMID:28492532|PMID:29260032|PMID:29970281|PMID:29984895|PMID:29984898|PMID:29996189|PMID:30794980|PMID:31521395|PMID:32342562|PMID:33029936|PMID:35710456|PMID:36237624|PMID:37761957 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0050651 atrioventricular septal defect ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AVC DEFECT PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0060490 Schimke immuno-osseous dysplasia ISO RGD:1314575 D RGD:7240710 20180130 OMIM 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0060490 Schimke immuno-osseous dysplasia ISO RGD:1314575 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia PMID:11799392|PMID:12471207|PMID:15523612|PMID:15880370|PMID:15884045|PMID:16199547|PMID:16237566|PMID:16840568|PMID:17089404|PMID:17576681|PMID:18805831|PMID:18974355|PMID:19127206|PMID:19793864|PMID:20179009|PMID:20301550|PMID:21914180|PMID:22998683|PMID:23359635|PMID:23671665|PMID:24197801|PMID:24589093|PMID:25349199|PMID:25640679|PMID:25741868|PMID:25748404|PMID:25943327|PMID:26089390|PMID:26195148|PMID:26499378|PMID:27577878|PMID:28204945|PMID:28492532|PMID:28780565|PMID:28796785|PMID:28844315|PMID:29127259|PMID:29282041|PMID:29802247|PMID:30026777|PMID:30295827|PMID:30586318|PMID:30635151|PMID:30687093|PMID:30784191|PMID:31039288|PMID:31275356|PMID:32393263|PMID:32499645|PMID:32604935|PMID:33203071|PMID:33532864|PMID:9536098 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0070297 primary microcephaly ISO RGD:1314575 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1314575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:28492532|PMID:28844315 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1314575 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1314575 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:10907 microcephaly ISO RGD:1314575 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:1184 nephrotic syndrome ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:18974355|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1314575 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:557 kidney disease ISO RGD:1314575 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:11799392|PMID:15523612|PMID:16199547|PMID:18805831|PMID:20301550|PMID:25741868|PMID:28492532|PMID:30026777|PMID:30784191|PMID:32499645 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:630 genetic disease ISO RGD:1314575 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30687093 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8925818 Smarcal1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 gene DOID:9007661 Dwarfism ISO RGD:1314575 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Short stature PMID:11799392|PMID:15880370|PMID:16840568|PMID:17089404|PMID:18805831|PMID:19127206|PMID:20301550|PMID:21914180|PMID:22998683|PMID:24589093|PMID:25741868|PMID:26499378|PMID:28492532|PMID:28796785|PMID:29127259 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:0050855 renal fibrosis ISO RGD:1309424 D RGD:9068941 20200609 RGD PMID:22326221|REF_RGD_ID:9587793 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:0050855 renal fibrosis ameliorates ISO XCO:0000795 D RGD:9068941 20230928 RGD compared to wild-type littermates PMID:22326221|REF_RGD_ID:9587793 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1319760 D RGD:7240710 20180130 OMIM 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1319760 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:10498624|PMID:10598813|PMID:11499676|PMID:16199547|PMID:16937026|PMID:17576681|PMID:18625437|PMID:19624736|PMID:19683193|PMID:19953534|PMID:20167518|PMID:21190454|PMID:21900546|PMID:23821607|PMID:24033266|PMID:24931457|PMID:25640679|PMID:25741868|PMID:25937994|PMID:26272171|PMID:28492532|PMID:28750028|PMID:29454792|PMID:30290665|PMID:30470980|PMID:30716179|PMID:32081864|PMID:32281309|PMID:32506361|PMID:33629196|PMID:33746979|PMID:34134972|PMID:34547651|PMID:7795241|PMID:8781442|PMID:8879195|PMID:9536098 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 PMID:16937026|PMID:23821607|PMID:25741868|PMID:28492532 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:1319760 D RGD:9068941 20200609 RGD protein:altered localization PMID:10873554|REF_RGD_ID:2314452 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:10763 hypertension ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:19307699|REF_RGD_ID:2314430 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:11832 visual epilepsy ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:altered localization PMID:15606902|REF_RGD_ID:2314448 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:3265 chronic granulomatous disease ISO RGD:1319760 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:10498624|PMID:17576681|PMID:19624736|PMID:20167518|PMID:21190454|PMID:28035544|PMID:28492532|PMID:34547651|PMID:9536098 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:576 proteinuria ISO RGD:1309424 D RGD:9068941 20200609 RGD PMID:22326221|REF_RGD_ID:9587793 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:576 proteinuria ameliorates ISO XCO:0000795 D RGD:9068941 20230928 RGD compared to wild-type littermates PMID:22326221|REF_RGD_ID:9587793 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:630 genetic disease ISO RGD:1319760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1319760 D RGD:9068941 20210205 RGD DNA:polymorphism, SNP:cds (rs789181) (human) PMID:17897462|REF_RGD_ID:41404710 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:14644473|REF_RGD_ID:2314450 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:9000955 Acute Otitis Media IEP D RGD:11553828|PMID:26711468 20161013 RGD mRNA, protein:increased expression:mucosa of middle ear 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:altered localization:glomerulus PMID:14514646|REF_RGD_ID:2314451 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:heart, membrane fraction PMID:18061195|REF_RGD_ID:2314434 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:9007730 Burns ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:neutrophil PMID:9329126|REF_RGD_ID:2314453 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8925847 Ncf2 neutrophil cytosolic factor 2 gene DOID:9970 obesity ISO RGD:1309424 D RGD:9068941 20200609 RGD protein:increased expression:artery PMID:17515452|REF_RGD_ID:2314435 8925870 Ablim3 actin binding LIM protein family member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1354406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8925870 Ablim3 actin binding LIM protein family member 3 gene DOID:630 genetic disease ISO RGD:1354406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925870 Ablim3 actin binding LIM protein family member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8925870 Ablim3 actin binding LIM protein family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8925870 Ablim3 actin binding LIM protein family member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1354406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8925934 Lgals3bp galectin 3 binding protein gene DOID:5082 liver cirrhosis ISO RGD:1352457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8925934 Lgals3bp galectin 3 binding protein gene DOID:630 genetic disease ISO RGD:1352457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925934 Lgals3bp galectin 3 binding protein gene DOID:9212 pityriasis rubra pilaris ISO RGD:1352457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 8925949 Blmh bleomycin hydrolase gene DOID:0111253 neurofibromatosis 1 ISO RGD:1312244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8925949 Blmh bleomycin hydrolase gene DOID:630 genetic disease ISO RGD:1312244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:0060249 scoliosis ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:0080006 bone development disease ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome ISO RGD:1601866 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome PMID:17351359|PMID:20018682|PMID:23320496|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451|PMID:30755392|PMID:31102500|PMID:32214227 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 ISO RGD:1601866 D RGD:7240710 20220810 OMIM 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: sensorineural hearing loss disorder PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:1059 intellectual disability ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:1067 open-angle glaucoma ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532571 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:11383 cryptorchidism ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: undescended testicle PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:12849 autistic disorder ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic disorder of childhood onset PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:13088 periventricular leukomalacia ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular leukomalacia PMID:25741868 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:14766 renal agenesis ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:540 strabismus ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Strabismus PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:630 genetic disease ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:674 cleft palate ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:25741868 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9004934 BILATERAL CLEFT LIP ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bilateral cleft lip PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1601866 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9009007 Tooth Abnormalities ISO RGD:1601866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20018682 8925972 Tmco1 transmembrane and coiled-coil domains 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8925983 Katnb1 katanin regulatory subunit B1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8925983 Katnb1 katanin regulatory subunit B1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322615 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8925983 Katnb1 katanin regulatory subunit B1 gene DOID:0112236 lissencephaly 6 ISO RGD:1322615 D RGD:7240710 20180130 OMIM 8925983 Katnb1 katanin regulatory subunit B1 gene DOID:0112236 lissencephaly 6 ISO RGD:1322615 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly PMID:25521378|PMID:25521379|PMID:25741868|PMID:28492532 8925983 Katnb1 katanin regulatory subunit B1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8925983 Katnb1 katanin regulatory subunit B1 gene DOID:630 genetic disease ISO RGD:1322615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8926018 Rnf41 ring finger protein 41 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1319962 D RGD:9068941 20230928 RGD DNA:SNP:exon 2:c.-206T>A (human) PMID:27323192|REF_RGD_ID:401827148 8926018 Rnf41 ring finger protein 41 gene DOID:630 genetic disease ISO RGD:1319962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926018 Rnf41 ring finger protein 41 gene DOID:9007838 Myocardial Reperfusion Injury severity ISO RGD:1551303 D RGD:9068941 20230928 RGD PMID:21312039|REF_RGD_ID:401827146 8926045 Rbm48 RNA binding motif protein 48 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 8926045 Rbm48 RNA binding motif protein 48 gene DOID:12712 nephronophthisis ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 8926045 Rbm48 RNA binding motif protein 48 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8926045 Rbm48 RNA binding motif protein 48 gene DOID:630 genetic disease ISO RGD:1602202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8926045 Rbm48 RNA binding motif protein 48 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 8926045 Rbm48 RNA binding motif protein 48 gene DOID:905 Zellweger syndrome ISO RGD:1602202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:25741868|PMID:28492532 8926063 Noa1 nitric oxide associated 1 gene DOID:630 genetic disease ISO RGD:1354431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926086 Tsc2 TSC complex subunit 2 gene DOID:0050562 West syndrome ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345974 8926086 Tsc2 TSC complex subunit 2 gene DOID:0050902 medulloblastoma ISO RGD:736193 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:11603814|REF_RGD_ID:11072879 8926086 Tsc2 TSC complex subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736193 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:10735580|PMID:15024740|PMID:17304050|PMID:21572417|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22867869|PMID:23514105|PMID:24033266|PMID:24728327|PMID:25231023|PMID:25401301|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29655203|PMID:30763456|PMID:31623367 8926086 Tsc2 TSC complex subunit 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 8926086 Tsc2 TSC complex subunit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:25741868|PMID:28215400|PMID:28492532 8926086 Tsc2 TSC complex subunit 2 gene DOID:0080322 polycystic kidney disease ISO RGD:736193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:17304050|PMID:22703879|PMID:22903760|PMID:24728327|PMID:25741868|PMID:28492532 8926086 Tsc2 TSC complex subunit 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:10205261|PMID:17304050|PMID:21520333|PMID:25741868|PMID:27859028|PMID:28492532 8926086 Tsc2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:7240710 20180130 OMIM 8926086 Tsc2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10069705|PMID:10090883|PMID:10205261|PMID:10206124|PMID:10215407|PMID:10227394|PMID:10330349|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11129334|PMID:11208653|PMID:11281455|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11781698|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12511557|PMID:12752578|PMID:12869586|PMID:12906785|PMID:12913212|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:1520333|PMID:15340059|PMID:15483652|PMID:15595939|PMID:15712319|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16835931|PMID:16877242|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17287951|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18230340|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18466115|PMID:18550814|PMID:18695678|PMID:1870099|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18830229|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19419980|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:20301399|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21418539|PMID:21510812|PMID:21520333|PMID:21567926|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22169896|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22707510|PMID:22748302|PMID:22791573|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23006675|PMID:23217510|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24053982|PMID:24055113|PMID:24075384|PMID:24271014|PMID:24412076|PMID:24668795|PMID:24728327|PMID:24737435|PMID:24770934|PMID:24789117|PMID:24840834|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25640679|PMID:25724664|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:25943403|PMID:25946256|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26822237|PMID:26994145|PMID:27060308|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27185581|PMID:27194594|PMID:27406250|PMID:27493206|PMID:27494029|PMID:27600092|PMID:27601542|PMID:27621404|PMID:27757534|PMID:27774772|PMID:27824329|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28074849|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28302202|PMID:28336152|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28600779|PMID:28623545|PMID:28643795|PMID:28659645|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:28991257|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29265517|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29642139|PMID:29655203|PMID:29659200|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29925043|PMID:29926239|PMID:29930392|PMID:29932062|PMID:29933521|PMID:3|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976 8926086 Tsc2 TSC complex subunit 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736193 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:30185235|PMID:30255984|PMID:30260069|PMID:30311386|PMID:30336374|PMID:30415495|PMID:30548481|PMID:30564305|PMID:30583724|PMID:30700906|PMID:30712878|PMID:30737501|PMID:30763456|PMID:30787465|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31069529|PMID:31140686|PMID:31370276|PMID:31375768|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31655562|PMID:31780880|PMID:31785789|PMID:31799751|PMID:31819260|PMID:31832524|PMID:31855466|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32005694|PMID:32193183|PMID:32211034|PMID:32216820|PMID:32313033|PMID:32340510|PMID:32382396|PMID:32390558|PMID:32410215|PMID:32461669|PMID:32477112|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32647919|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:32964447|PMID:33074564|PMID:33084842|PMID:33226606|PMID:33391346|PMID:33436626|PMID:33437033|PMID:33532864|PMID:33574475|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34081952|PMID:34219792|PMID:34246755|PMID:34252879|PMID:34403804|PMID:34489640|PMID:34575676|PMID:34754157|PMID:34804623|PMID:34849272|PMID:34992632|PMID:35231114|PMID:35288456|PMID:35307828|PMID:35441217|PMID:35571021|PMID:35599849|PMID:35712104|PMID:35768438|PMID:35918040|PMID:36030538|PMID:36117189|PMID:36229297|PMID:36232477|PMID:37228977|PMID:4461062|PMID:5279523|PMID:7558029|PMID:7581393|PMID:7823706|PMID:8519695|PMID:8634701|PMID:8799170|PMID:8824881|PMID:8825048|PMID:9045618|PMID:9076719|PMID:9242607|PMID:9285776|PMID:9302281|PMID:9328481|PMID:9361032|PMID:9412784|PMID:9452050|PMID:9463313|PMID:9536098|PMID:9580671|PMID:9829910|PMID:9881533 8926086 Tsc2 TSC complex subunit 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 8926086 Tsc2 TSC complex subunit 2 gene DOID:0080904 astroblastoma, MN1-altered ISO RGD:736193 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Astroblastoma, MN1-altered PMID:25741868|PMID:28492532 8926086 Tsc2 TSC complex subunit 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8926086 Tsc2 TSC complex subunit 2 gene DOID:10487 Hirschsprung's disease ISO RGD:736193 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10205261|PMID:15798777|PMID:17304050|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532 8926086 Tsc2 TSC complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:736193 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:10205261|PMID:16199547|PMID:17304050|PMID:25741868|PMID:27859028|PMID:28492532 8926086 Tsc2 TSC complex subunit 2 gene DOID:10652 Alzheimer's disease ISO RGD:736193 D RGD:9068941 20200609 RGD PMID:16341938|REF_RGD_ID:1580518 8926086 Tsc2 TSC complex subunit 2 gene DOID:127 leiomyoma ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15937110 8926086 Tsc2 TSC complex subunit 2 gene DOID:127 leiomyoma ISO RGD:736193 D RGD:9068941 20200609 RGD PMID:21145542|REF_RGD_ID:11568684 8926086 Tsc2 TSC complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14627686 8926086 Tsc2 TSC complex subunit 2 gene DOID:13223 uterine fibroid ISO RGD:11457 D RGD:9068941 20220825 MouseDO OMIM:150699 8926086 Tsc2 TSC complex subunit 2 gene DOID:13515 tuberous sclerosis ISO RGD:736193 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:10069705|PMID:10090883|PMID:10205261|PMID:10206124|PMID:10215407|PMID:10227394|PMID:10330349|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11468687|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12511557|PMID:12752578|PMID:12906785|PMID:12913212|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:1520333|PMID:15236319|PMID:15483652|PMID:15595939|PMID:15712319|PMID:15798777|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16877242|PMID:16981987|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17681840|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18410267|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18695678|PMID:1870099|PMID:18772611|PMID:18792920|PMID:18830229|PMID:18854862|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19419980|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:20301399|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21418539|PMID:21510812|PMID:21520333|PMID:21567926|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22707510|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22974335|PMID:22995991|PMID:23006675|PMID:23217510|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24668795|PMID:24728327|PMID:24789117|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25724664|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26994145|PMID:27060308|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27194594|PMID:27406250|PMID:27493206|PMID:27494029|PMID:27600092|PMID:27601542|PMID:27621404|PMID:27757534|PMID:27774772|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28074849|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28202063|PMID:28211972|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28600779|PMID:28623545|PMID:28643795|PMID:28771801|PMID:28786016|PMID:28968464|PMID:28991257|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29221145|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29642139|PMID:29655203|PMID:29659200|PMID:29740858|PMID:29801666|PMID:29925043|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30548481|PMID:30564305|PMID:30583724|PMID:30712878|PMID:30787465|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31375768|PMID:31444548|PMID:31586081|PMID:31591157|PMID:31655562|PMID:31785789|PMID:31799751|PMID:31819260|PMID:31855466|PMID:31856217|PMID:31927531|PMID:32005694|PMID:32211034|PMID:32216820|PMID:32313033|PMID:32382396|PMID:32410215|PMID:32461669|PMID:32461694|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33051600|PMID:33074564|PMID:33391346|PMID:33532864|PMID:34070849|PMID:34145886|PMID:34246755|PMID:34252879|PMID:34403804 8926086 Tsc2 TSC complex subunit 2 gene DOID:13515 tuberous sclerosis ISO RGD:736193 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:34489640|PMID:34575676|PMID:34754157|PMID:34804623|PMID:34849272|PMID:35441217|PMID:35712104|PMID:35768438|PMID:35918040|PMID:36232477|PMID:37228977|PMID:4461062|PMID:5279523|PMID:7581393|PMID:7823706|PMID:8634701|PMID:8824881|PMID:8825048|PMID:9076719|PMID:9242607|PMID:9285776|PMID:9302281|PMID:9328481|PMID:9361032|PMID:9412784|PMID:9452050|PMID:9463313|PMID:9536098|PMID:9829910|PMID:9881533 8926086 Tsc2 TSC complex subunit 2 gene DOID:1612 breast cancer disease_progression ISO RGD:736193 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:breast PMID:15951164|REF_RGD_ID:11568707 8926086 Tsc2 TSC complex subunit 2 gene DOID:1749 squamous cell carcinoma ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 8926086 Tsc2 TSC complex subunit 2 gene DOID:1793 pancreatic cancer ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19917848 8926086 Tsc2 TSC complex subunit 2 gene DOID:1826 epilepsy ISO RGD:736193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:17304050|PMID:25741868|PMID:26467025|PMID:28492532 8926086 Tsc2 TSC complex subunit 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8926086 Tsc2 TSC complex subunit 2 gene DOID:2394 ovarian cancer ISO RGD:736193 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10732801|PMID:15798777|PMID:16114042|PMID:17304050|PMID:18302728|PMID:21309039|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:27930734|PMID:28492532|PMID:29641532|PMID:30548481|PMID:32830346|PMID:32917966|PMID:33575217 8926086 Tsc2 TSC complex subunit 2 gene DOID:255 hemangioma ISO RGD:11457 D RGD:9068941 20200609 RGD PMID:10096549|REF_RGD_ID:11568655 8926086 Tsc2 TSC complex subunit 2 gene DOID:2871 endometrial carcinoma ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8926086 Tsc2 TSC complex subunit 2 gene DOID:3314 angiomyolipoma ISO RGD:736193 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney PMID:19265534|REF_RGD_ID:8657154 8926086 Tsc2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:11457 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:29512829|REF_RGD_ID:21079730 8926086 Tsc2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:11457 D RGD:9068941 20200609 RGD associated with tuberous sclerosis;DNA:mutations:multiple PMID:22251200|REF_RGD_ID:21079732 8926086 Tsc2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:3908 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:29512829|REF_RGD_ID:21079730 8926086 Tsc2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:3908 D RGD:9068941 20200609 RGD associated with tuberous sclerosis;DNA:mutations:multiple PMID:22251200|REF_RGD_ID:21079732 8926086 Tsc2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:736193 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:29512829|REF_RGD_ID:21079730 8926086 Tsc2 TSC complex subunit 2 gene DOID:3317 hepatic angiomyolipoma ISO RGD:736193 D RGD:9068941 20200609 RGD associated with tuberous sclerosis;DNA:mutations:multiple PMID:22251200|REF_RGD_ID:21079732 8926086 Tsc2 TSC complex subunit 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736193 D RGD:7240710 20180130 OMIM 8926086 Tsc2 TSC complex subunit 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736193 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11290735|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:14641237|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16464865|PMID:16554133|PMID:16981987|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18792920|PMID:18854862|PMID:19254590|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:20301399|PMID:20399389|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21624971|PMID:21811971|PMID:21910228|PMID:22343534|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:23006675|PMID:23217510|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:25039834|PMID:25088526|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25432535|PMID:25525159|PMID:25599672|PMID:25637381|PMID:25724664|PMID:25741868|PMID:25862857|PMID:25927202|PMID:26332594|PMID:26467025|PMID:26540169|PMID:26703369|PMID:27153395|PMID:27174333|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27757534|PMID:27859028|PMID:27884173|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28250423|PMID:28397210|PMID:28492532|PMID:28968464|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29659200|PMID:29684080|PMID:29801666|PMID:29933521|PMID:30255984|PMID:30583724|PMID:30712878|PMID:30787465|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31785789|PMID:31875159|PMID:32005694|PMID:32211034|PMID:32313033|PMID:32410215|PMID:32555378|PMID:32860008|PMID:32917966|PMID:34070849|PMID:34252879|PMID:34403804|PMID:34849272|PMID:35441217|PMID:35918040|PMID:36117189|PMID:36229297|PMID:37228977|PMID:5279523|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 8926086 Tsc2 TSC complex subunit 2 gene DOID:3376 bone osteosarcoma ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:25741868|PMID:26822237 8926086 Tsc2 TSC complex subunit 2 gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:736193 D RGD:9068941 20200609 RGD PMID:16213898|REF_RGD_ID:11568674 8926086 Tsc2 TSC complex subunit 2 gene DOID:4450 renal cell carcinoma ISO RGD:11457 D RGD:9068941 20200609 RGD PMID:10096549|REF_RGD_ID:11568655 8926086 Tsc2 TSC complex subunit 2 gene DOID:4450 renal cell carcinoma ISO RGD:3908 D RGD:9068941 20200609 RGD DNA:nonsense mutations;missense mutations; splice-site mutation:multiple PMID:10029074|REF_RGD_ID:68666 8926086 Tsc2 TSC complex subunit 2 gene DOID:4450 renal cell carcinoma treatment ISO RGD:3908 D RGD:9068941 20200609 RGD PMID:18695678|REF_RGD_ID:11568661 8926086 Tsc2 TSC complex subunit 2 gene DOID:630 genetic disease ISO RGD:736193 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090883|PMID:10205261|PMID:11112665|PMID:15121797|PMID:15798777|PMID:17304050|PMID:20633017|PMID:21510812|PMID:21520333|PMID:25741868|PMID:25782670|PMID:26467025|PMID:28065512|PMID:28492532|PMID:31785789|PMID:33574475 8926086 Tsc2 TSC complex subunit 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:11457 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:24119083|REF_RGD_ID:21079731 8926086 Tsc2 TSC complex subunit 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:3908 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:24119083|REF_RGD_ID:21079731 8926086 Tsc2 TSC complex subunit 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:736193 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:24119083|REF_RGD_ID:21079731 8926086 Tsc2 TSC complex subunit 2 gene DOID:769 neuroblastoma ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 8926086 Tsc2 TSC complex subunit 2 gene DOID:8725 vascular dementia ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:35307828 8926086 Tsc2 TSC complex subunit 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736193 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:15951164|REF_RGD_ID:11568707 8926086 Tsc2 TSC complex subunit 2 gene DOID:9000972 Fever ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic fever PMID:28492532 8926086 Tsc2 TSC complex subunit 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11170505|PMID:12110509|PMID:21693435 8926086 Tsc2 TSC complex subunit 2 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:25741868|PMID:28492532|PMID:30311386 8926086 Tsc2 TSC complex subunit 2 gene DOID:9002955 Nerve Degeneration ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21419848 8926086 Tsc2 TSC complex subunit 2 gene DOID:9003122 Rhabdomyoma ISO RGD:736193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyoma PMID:10205261|PMID:17304050|PMID:25741868|PMID:28492532|PMID:32211034|PMID:32313033 8926086 Tsc2 TSC complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8926086 Tsc2 TSC complex subunit 2 gene DOID:9005077 Joint Instability ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868|PMID:28492532|PMID:30311386 8926086 Tsc2 TSC complex subunit 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30008631 8926086 Tsc2 TSC complex subunit 2 gene DOID:9005372 Inflammation ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 8926086 Tsc2 TSC complex subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3908 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:cortex of kidney PMID:18599524|REF_RGD_ID:8657153 8926086 Tsc2 TSC complex subunit 2 gene DOID:9006065 Arthralgia ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthralgia PMID:25741868|PMID:28492532|PMID:30311386 8926086 Tsc2 TSC complex subunit 2 gene DOID:9006534 Nervous System Malformations ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8926086 Tsc2 TSC complex subunit 2 gene DOID:9006741 Acute Hepatitis ISO RGD:3908 D RGD:9068941 20200609 RGD PMID:20033472|REF_RGD_ID:11568659 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11437991|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16464865|PMID:16554133|PMID:16981987|PMID:17005952|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18414213|PMID:18722871|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19369101|PMID:19747374|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21819393|PMID:21910228|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24412076|PMID:24425785|PMID:24728327|PMID:24770934|PMID:25058500|PMID:25088526|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25900779|PMID:25911330|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26703369|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27493206|PMID:27600092|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28178598|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28687356|PMID:28771801|PMID:28873162|PMID:28968464|PMID:29167182|PMID:29271092|PMID:29344138|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:31586081|PMID:31832524|PMID:32193183|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:11068191|PMID:11112665|PMID:11208653|PMID:11437991|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16464865|PMID:16554133|PMID:16981987|PMID:17005952|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18414213|PMID:18722871|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19369101|PMID:19747374|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21819393|PMID:21910228|PMID:22161988|PMID:22490766|PMID:22558107|PMID:22703879|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24412076|PMID:24425785|PMID:24728327|PMID:24770934|PMID:25058500|PMID:25088526|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25900779|PMID:25911330|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26703369|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27493206|PMID:27600092|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28178598|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28687356|PMID:28771801|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29167182|PMID:29271092|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:30093976|PMID:30763456|PMID:31018109|PMID:31586081|PMID:31650098|PMID:31799751|PMID:31832524|PMID:31856217|PMID:32193183|PMID:32313033|PMID:32502382|PMID:32555378|PMID:32830346|PMID:32917028|PMID:32917966|PMID:33226606|PMID:33686467|PMID:34070849|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:12869586|PMID:12906785|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:24770934|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26994145|PMID:27061015|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27621404|PMID:27824329|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28623545|PMID:28643795|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29930392|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30311386|PMID:30336374|PMID:30548481|PMID:30712878|PMID:30763456|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31799751|PMID:31832524|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32193183|PMID:32211034|PMID:32313033|PMID:32382396|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33226606|PMID:33436626|PMID:33532864|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34489640|PMID:34754157|PMID:35307828|PMID:36232477|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:12869586|PMID:12906785|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:24770934|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26994145|PMID:27061015|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27621404|PMID:27824329|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28623545|PMID:28643795|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29930392|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30311386|PMID:30336374|PMID:30415495|PMID:30548481|PMID:30712878|PMID:30763456|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31370276|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31799751|PMID:31832524|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32193183|PMID:32211034|PMID:32313033|PMID:32382396|PMID:32410215|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33226606|PMID:33436626|PMID:33532864|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34489640|PMID:34754157|PMID:35307828|PMID:36232477|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:12869586|PMID:12906785|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:24770934|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26833330|PMID:26994145|PMID:27061015|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27621404|PMID:27824329|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28623545|PMID:28643795|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29930392|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30311386|PMID:30336374|PMID:30415495|PMID:30548481|PMID:30712878|PMID:30763456|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31069529|PMID:31370276|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31799751|PMID:31832524|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32193183|PMID:32211034|PMID:32313033|PMID:32382396|PMID:32390558|PMID:32410215|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33226606|PMID:33436626|PMID:33532864|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34489640|PMID:34754157|PMID:35307828|PMID:35441217|PMID:36232477|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:12869586|PMID:12906785|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:24770934|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26833330|PMID:26994145|PMID:27061015|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27621404|PMID:27824329|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28623545|PMID:28643795|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29930392|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30311386|PMID:30336374|PMID:30415495|PMID:30548481|PMID:30583724|PMID:30712878|PMID:30763456|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31069529|PMID:31370276|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31799751|PMID:31832524|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32193183|PMID:32211034|PMID:32313033|PMID:32382396|PMID:32390558|PMID:32410215|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33226606|PMID:33436626|PMID:33437033|PMID:33532864|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34489640|PMID:34754157|PMID:35307828|PMID:35441217|PMID:35918040|PMID:36232477|PMID:5279523|PMID:8634701|PMID:8824881 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:12869586|PMID:12906785|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:24770934|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26994145|PMID:27061015|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27621404|PMID:27824329|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28623545|PMID:28643795|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29930392|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30311386|PMID:30336374|PMID:30415495|PMID:30548481|PMID:30583724|PMID:30712878|PMID:30763456|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31069529|PMID:31370276|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31799751|PMID:31832524|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32193183|PMID:32211034|PMID:32313033|PMID:32382396|PMID:32390558|PMID:32410215|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33226606|PMID:33436626|PMID:33437033|PMID:33532864|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34403804|PMID:34489640|PMID:34754157|PMID:35307828|PMID:35441217|PMID:35918040|PMID:36232477|PMID:5279523|PMID:8634701|PMID:8824881 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090883|PMID:10205261|PMID:10215407|PMID:10533066|PMID:10533067|PMID:10570911|PMID:10577937|PMID:10607950|PMID:10633137|PMID:10732801|PMID:10735580|PMID:10823953|PMID:10905251|PMID:10942116|PMID:11068191|PMID:11112665|PMID:1112665|PMID:11208653|PMID:11290735|PMID:11403047|PMID:11437991|PMID:11520734|PMID:11521203|PMID:11603814|PMID:11741832|PMID:11741833|PMID:11810271|PMID:11829138|PMID:12015165|PMID:12062115|PMID:12086608|PMID:12111193|PMID:12136241|PMID:12235314|PMID:12752578|PMID:12869586|PMID:12906785|PMID:14508401|PMID:14641237|PMID:14718525|PMID:14756965|PMID:14993219|PMID:15024740|PMID:15072102|PMID:15121792|PMID:15121797|PMID:15141215|PMID:15483652|PMID:15595939|PMID:15798777|PMID:15851026|PMID:15874888|PMID:15963462|PMID:16032769|PMID:16042315|PMID:16114042|PMID:16129702|PMID:16199547|PMID:16237225|PMID:16417848|PMID:16464865|PMID:16554133|PMID:16822245|PMID:16981987|PMID:17005952|PMID:17034546|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:17671177|PMID:18032745|PMID:18302728|PMID:18308511|PMID:18411301|PMID:18414213|PMID:18550814|PMID:18722871|PMID:18772611|PMID:18792920|PMID:18854862|PMID:19166931|PMID:19254590|PMID:19258292|PMID:19259131|PMID:19369101|PMID:19747374|PMID:19823873|PMID:20108343|PMID:20165957|PMID:20301399|PMID:2039137|PMID:20399389|PMID:20498439|PMID:20633017|PMID:21252315|PMID:21309039|PMID:21332470|PMID:21407201|PMID:21407264|PMID:21510812|PMID:21520333|PMID:21572417|PMID:21624971|PMID:21811971|PMID:21846442|PMID:21910228|PMID:22055460|PMID:22161988|PMID:22189265|PMID:22343534|PMID:22490766|PMID:22495309|PMID:22552000|PMID:22558107|PMID:22703879|PMID:22805177|PMID:22867869|PMID:22903760|PMID:22995991|PMID:23006675|PMID:23254740|PMID:23389244|PMID:23504366|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24055113|PMID:24271014|PMID:24412076|PMID:24728327|PMID:24770934|PMID:25039834|PMID:25058500|PMID:25088526|PMID:25180276|PMID:25203624|PMID:25231023|PMID:25281918|PMID:25338684|PMID:25363768|PMID:25401301|PMID:25432535|PMID:25498131|PMID:25525159|PMID:25593300|PMID:25599672|PMID:25637381|PMID:25741868|PMID:25782670|PMID:25862857|PMID:25892863|PMID:25900779|PMID:25911330|PMID:25927202|PMID:26155992|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26540169|PMID:26563443|PMID:26580448|PMID:26633542|PMID:26637798|PMID:26703369|PMID:26994145|PMID:27061015|PMID:27078846|PMID:27153395|PMID:27174333|PMID:27176796|PMID:27406250|PMID:27493206|PMID:27600092|PMID:27601542|PMID:27621404|PMID:27774772|PMID:27824329|PMID:27854218|PMID:27859028|PMID:27884173|PMID:27930734|PMID:28065512|PMID:28087349|PMID:28127866|PMID:28149746|PMID:28178598|PMID:28191889|PMID:28202063|PMID:28211972|PMID:28215400|PMID:28250423|PMID:28397210|PMID:28407358|PMID:28409891|PMID:28492532|PMID:28505269|PMID:28623545|PMID:28643795|PMID:28687356|PMID:28771801|PMID:28786016|PMID:28873162|PMID:28968464|PMID:28991257|PMID:2903760|PMID:29101226|PMID:29167182|PMID:29196670|PMID:29271092|PMID:29286531|PMID:29308833|PMID:29344138|PMID:29432982|PMID:29458892|PMID:29476190|PMID:29500070|PMID:29641532|PMID:29655203|PMID:29659200|PMID:29684080|PMID:29740858|PMID:29778030|PMID:29801666|PMID:29868112|PMID:29892012|PMID:29930392|PMID:29932062|PMID:29933521|PMID:30024541|PMID:30036593|PMID:30086788|PMID:30093976|PMID:30185235|PMID:30255984|PMID:30311386|PMID:30336374|PMID:30415495|PMID:30548481|PMID:30564305|PMID:30583724|PMID:30700906|PMID:30712878|PMID:30737501|PMID:30763456|PMID:30787465|PMID:30911571|PMID:30986793|PMID:31005478|PMID:31018109|PMID:31069529|PMID:31370276|PMID:31375768|PMID:31444548|PMID:31525612|PMID:31586081|PMID:31591157|PMID:31623367|PMID:31650098|PMID:31655562|PMID:31785789|PMID:31799751|PMID:31819260|PMID:31832524|PMID:31856217|PMID:31875159|PMID:31927531|PMID:31981491|PMID:32005694|PMID:32193183|PMID:32211034|PMID:32216820|PMID:32313033|PMID:32382396|PMID:32390558|PMID:32410215|PMID:32477112|PMID:32502382|PMID:32555378|PMID:32581362|PMID:32830346|PMID:32849516|PMID:32860008|PMID:32917028|PMID:32917966|PMID:33084842 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736193 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33226606|PMID:33436626|PMID:33437033|PMID:33532864|PMID:33575217|PMID:33686467|PMID:34070849|PMID:34081952|PMID:34219792|PMID:34252879|PMID:34403804|PMID:34489640|PMID:34575676|PMID:34754157|PMID:34804623|PMID:34992632|PMID:35288456|PMID:35307828|PMID:35441217|PMID:35571021|PMID:35712104|PMID:35768438|PMID:35918040|PMID:36117189|PMID:36229297|PMID:36232477|PMID:37228977|PMID:5279523|PMID:8634701|PMID:8824881|PMID:9076719|PMID:9285776|PMID:9302281|PMID:9412784|PMID:9463313|PMID:9536098|PMID:9829910 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007253 Hamartoma ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hamartoma PMID:25741868 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007364 Mouth Neoplasms ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18538015 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007456 Female Infertility ISO RGD:11457 D RGD:9068941 20200609 RGD PMID:25189766|REF_RGD_ID:11568667 8926086 Tsc2 TSC complex subunit 2 gene DOID:9007502 Brain Neoplasms ISO RGD:736193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:10205261|PMID:10533067|PMID:10735580|PMID:11208653|PMID:11603814|PMID:12136241|PMID:15798777|PMID:16114042|PMID:17304050|PMID:18854862|PMID:21309039|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8926086 Tsc2 TSC complex subunit 2 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736193 D RGD:7240710 20190315 OMIM 8926086 Tsc2 TSC complex subunit 2 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:736193 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II PMID:10205261|PMID:10533066|PMID:10533067|PMID:10732801|PMID:10735580|PMID:11068191|PMID:11112665|PMID:11403047|PMID:11741832|PMID:12015165|PMID:12111193|PMID:15483652|PMID:15798777|PMID:16114042|PMID:16199547|PMID:16464865|PMID:16981987|PMID:17120248|PMID:17304050|PMID:17536269|PMID:17576681|PMID:18772611|PMID:18854862|PMID:19254590|PMID:19369101|PMID:20165957|PMID:21309039|PMID:21332470|PMID:21510812|PMID:21520333|PMID:22495309|PMID:22703879|PMID:22867869|PMID:22903760|PMID:23389244|PMID:23514105|PMID:23955302|PMID:24033266|PMID:24412076|PMID:24728327|PMID:25363768|PMID:25432535|PMID:25741868|PMID:26467025|PMID:26540169|PMID:26703369|PMID:26994145|PMID:27174333|PMID:27859028|PMID:27930734|PMID:28065512|PMID:28178598|PMID:28215400|PMID:28250423|PMID:28407358|PMID:28492532|PMID:29167182|PMID:29196670|PMID:29476190|PMID:29500070|PMID:29655203|PMID:29659200|PMID:29801666|PMID:30036593|PMID:30763456|PMID:30787465|PMID:31623367|PMID:32211034|PMID:32502382|PMID:33084842|PMID:34403804|PMID:35231114|PMID:35441217|PMID:35918040|PMID:36030538|PMID:36117189|PMID:36229297|PMID:9536098|PMID:9829910 8926086 Tsc2 TSC complex subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19250671 8926086 Tsc2 TSC complex subunit 2 gene DOID:936 brain disease ISO RGD:736193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062901 8926152 Tmigd2 transmembrane and immunoglobulin domain containing 2 gene DOID:13938 amenorrhea ISO RGD:1606734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8926152 Tmigd2 transmembrane and immunoglobulin domain containing 2 gene DOID:630 genetic disease ISO RGD:1606734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926177 Ccdc71 coiled-coil domain containing 71 gene DOID:0060852 Pierson syndrome ISO RGD:1601742 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 8926177 Ccdc71 coiled-coil domain containing 71 gene DOID:630 genetic disease ISO RGD:1601742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926177 Ccdc71 coiled-coil domain containing 71 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1601742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1319782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1319782 D RGD:9068941 20221117 RGD DNA:missense mutations: :multiple (human) PMID:27426733|REF_RGD_ID:11552867 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:0111787 frontometaphyseal dysplasia 2 ISO RGD:1319782 D RGD:7240710 20190315 OMIM 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:0111787 frontometaphyseal dysplasia 2 ISO RGD:1319782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 PMID:25741868|PMID:25899317|PMID:27426733|PMID:28492532 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:10283 prostate cancer ISO RGD:1319782 D RGD:9068941 20200609 RGD DNA:deletion PMID:17785553|REF_RGD_ID:2298803 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:11520 benign hypertensive renal disease ISO RGD:1319782 D RGD:9068941 20221222 RGD protein:increased expression:cortex of kidney (human) PMID:34584221|REF_RGD_ID:155791449 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319782 D RGD:9068941 20221231 RGD protein:increased phosphorylation:heart (human) PMID:27249171|REF_RGD_ID:155646134 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:1319783 D RGD:9068941 20221110 RGD PMID:27249171|REF_RGD_ID:155646134 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319782 D RGD:9068941 20221231 RGD protein:increased phosphorylation:heart (human) PMID:27249171|REF_RGD_ID:155646134 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:13619 extrahepatic cholestasis ISO RGD:1319782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:1319783 D RGD:9068941 20230128 RGD PMID:32078472|PMID:32349637|PMID:32382778|PMID:34628598|REF_RGD_ID:155791642|REF_RGD_ID:155804272|REF_RGD_ID:155804283|REF_RGD_ID:155804284 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:2316 brain ischemia treatment ISO RGD:1319783 D RGD:9068941 20230128 RGD PMID:21475303|REF_RGD_ID:155882442 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:2349 arteriosclerosis ameliorates ISO RGD:1309438 D RGD:9068941 20230128 RGD PMID:35078016|REF_RGD_ID:155804282 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1319783 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:3393 coronary artery disease ISO RGD:1319782 D RGD:9068941 20221222 RGD associated with hypothyroidism;mRNA:decreased expression:venous blood (human) PMID:32495070|REF_RGD_ID:155791451 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1319782 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:4724 brain edema ISO RGD:1319783 D RGD:9068941 20230128 RGD PMID:26347470|REF_RGD_ID:11074637 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:5844 myocardial infarction ISO RGD:1309438 D RGD:9068941 20230105 RGD mRNA, protein:increased expression:myocardium (rat) PMID:16183734|REF_RGD_ID:2298758 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:5844 myocardial infarction treatment ISO RGD:1309438 D RGD:9068941 20230202 RGD PMID:27121011|REF_RGD_ID:11073666 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:6000 congestive heart failure ISO RGD:1319783 D RGD:9068941 20230128 RGD PMID:10802712|PMID:25278099|REF_RGD_ID:11534146|REF_RGD_ID:155804285 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:6000 congestive heart failure treatment ISO RGD:1319783 D RGD:9068941 20230105 RGD PMID:26706286|REF_RGD_ID:155791673 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:630 genetic disease ISO RGD:1319782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:784 chronic kidney disease ISO RGD:1309438 D RGD:9068941 20230128 RGD protein:increased expression:aorta (rat) PMID:32581266|REF_RGD_ID:155804294 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:1309438 D RGD:9068941 20230112 RGD PMID:29273596|REF_RGD_ID:155804269 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000890 Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones ISO RGD:1319782 D RGD:7240710 20190315 OMIM 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000890 Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones ISO RGD:1319782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome PMID:20186786|PMID:25741868|PMID:27426733|PMID:27426734|PMID:28492532|PMID:29467388|PMID:32105826 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000998 Brain Injuries treatment ISO RGD:1309438 D RGD:9068941 20230128 RGD associated with Subarachnoid Hemorrhage PMID:26100626|PMID:27000704|REF_RGD_ID:155791672|REF_RGD_ID:155804286 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9000998 Brain Injuries treatment ISO RGD:1319783 D RGD:9068941 20230128 RGD associated with Subarachnoid Hemorrhage PMID:33414375|REF_RGD_ID:155882440 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:1309438 D RGD:9068941 20230128 RGD PMID:35582418|REF_RGD_ID:155804297 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1319783 D RGD:9068941 20230114 RGD PMID:30076625|REF_RGD_ID:155804280 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002159 Liver Reperfusion Injury exacerbates ISO RGD:1319783 D RGD:9068941 20230128 RGD protein:increased phosphorylation:liver (mouse) PMID:30622220|REF_RGD_ID:155882441 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002202 Opsismodysplasia ISO RGD:1319782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed skeletal maturation PMID:25741868 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002220 Forney Robinson Pascoe Syndrome ISO RGD:1319782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9002304 Prostatic Neoplasms no_association ISO RGD:1319782 D RGD:9068941 20200609 RGD based one the lack of correlation to loss of heterozygosity (LOH) PMID:12967473|REF_RGD_ID:2298805 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1319783 D RGD:9068941 20230128 RGD associated with obesity;protein:increased phosphorylation:heart (mouse) PMID:29143862|REF_RGD_ID:155804300 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:1309438 D RGD:9068941 20230105 RGD PMID:32543140|REF_RGD_ID:155791675 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1309438 D RGD:9068941 20230112 RGD protein:increased expression:brain (rat) PMID:32734729|REF_RGD_ID:155804275 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003676 Brain Hypoxia-Ischemia ameliorates ISO RGD:1319783 D RGD:9068941 20230112 RGD PMID:29138854|REF_RGD_ID:155804273 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ISO RGD:1309438 D RGD:9068941 20230105 RGD mRNA:increased expression:wall of left ventricle (rat) PMID:30854566|REF_RGD_ID:155791647 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ISO RGD:1319783 D RGD:9068941 20230105 RGD protein:increased phosphorylation:heart (mouse) PMID:27956576|PMID:32971071|PMID:35490166|REF_RGD_ID:155791643|REF_RGD_ID:155791649|REF_RGD_ID:155791668 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:1319783 D RGD:9068941 20230105 RGD PMID:30407523|REF_RGD_ID:155791650 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1309438 D RGD:9068941 20230112 RGD PMID:28821620|REF_RGD_ID:155804266 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1319783 D RGD:9068941 20230105 RGD PMID:26891723|PMID:31885808|PMID:34733837|REF_RGD_ID:11555743|REF_RGD_ID:155791644|REF_RGD_ID:155791674 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9004994 Embryo Loss ISO RGD:1319783 D RGD:9068941 20221117 RGD PMID:22972987|REF_RGD_ID:155663421 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1309438 D RGD:9068941 20230202 RGD associated with type 2 diabetes mellitus;protein:decreased expression:myocardium of ventricle (rat) PMID:22146585|REF_RGD_ID:155883162 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9007096 Stroke treatment ISO RGD:1319783 D RGD:9068941 20221222 RGD PMID:33434616|REF_RGD_ID:155791452 8926186 Map3k7 mitogen-activated protein kinase kinase kinase 7 gene DOID:9007346 Cachexia treatment ISO RGD:1309438 D RGD:9068941 20230105 RGD associated with Pulmonary Arterial Hypertension PMID:30554141|REF_RGD_ID:155791671 8926213 Lhx4 LIM homeobox 4 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8926213 Lhx4 LIM homeobox 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8926213 Lhx4 LIM homeobox 4 gene DOID:630 genetic disease ISO RGD:1317585 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8926213 Lhx4 LIM homeobox 4 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1317585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1 | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:25741868 8926213 Lhx4 LIM homeobox 4 gene DOID:9005891 Combined Pituitary Hormone Deficiency, 6 ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant PMID:28492532 8926213 Lhx4 LIM homeobox 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8926213 Lhx4 LIM homeobox 4 gene DOID:9008403 Combined Pituitary Hormone Deficiency 4 ISO RGD:1317585 D RGD:7240710 20180130 OMIM 8926213 Lhx4 LIM homeobox 4 gene DOID:9008403 Combined Pituitary Hormone Deficiency 4 ISO RGD:1317585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica PMID:11567216|PMID:17201807|PMID:17527005|PMID:18073311|PMID:18445675|PMID:20534763|PMID:23029363|PMID:23990694|PMID:24033266|PMID:25741868|PMID:25910213|PMID:27820671|PMID:28492532|PMID:34008892 8926213 Lhx4 LIM homeobox 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8926223 Isca2 iron-sulfur cluster assembly 2 gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1319881 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome PMID:25434003|PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947|PMID:29470032 8926223 Isca2 iron-sulfur cluster assembly 2 gene DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 ISO RGD:1319881 D RGD:7240710 20180130 OMIM 8926223 Isca2 iron-sulfur cluster assembly 2 gene DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 ISO RGD:1319881 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 4 PMID:25434003|PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28803783|PMID:29122497|PMID:29297947|PMID:29359243|PMID:29470032 8926223 Isca2 iron-sulfur cluster assembly 2 gene DOID:1059 intellectual disability ISO RGD:1319881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8926223 Isca2 iron-sulfur cluster assembly 2 gene DOID:630 genetic disease ISO RGD:1319881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8926223 Isca2 iron-sulfur cluster assembly 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1319881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25434003|PMID:25539947|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29122497|PMID:29297947|PMID:29470032 8926229 Nkx6-3 NK6 homeobox 3 gene DOID:630 genetic disease ISO RGD:1605569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:733898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:733898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:10562302|PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110680 congenital myasthenic syndrome 2C ISO RGD:733898 D RGD:7240710 20180822 OMIM 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110680 congenital myasthenic syndrome 2C ISO RGD:733898 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2C PMID:10562302|PMID:25741868|PMID:28492532|PMID:32504635|PMID:33060286 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:733898 D RGD:7240710 20180314 OMIM 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:733898 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 2a, slow-channel PMID:10562302|PMID:14991812|PMID:16199547|PMID:17576681|PMID:17686188|PMID:18414213|PMID:20562457|PMID:25741868|PMID:26467025|PMID:27375219|PMID:27391121|PMID:28492532|PMID:28686619|PMID:8651643|PMID:8872460|PMID:9536098 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:1059 intellectual disability ISO RGD:733898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:12177 common variable immunodeficiency ISO RGD:733898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:2729 dyskeratosis congenita ISO RGD:733898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:3012 Li-Fraumeni syndrome ISO RGD:733898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:733898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive PMID:28492532 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:733898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:630 genetic disease ISO RGD:733898 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8926236 Chrnb1 cholinergic receptor nicotinic beta 1 subunit gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:733898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8926264 Oxsm 3-oxoacyl-ACP synthase, mitochondrial gene DOID:630 genetic disease ISO RGD:1603026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926288 Kif20b kinesin family member 20B gene DOID:10907 microcephaly ISO RGD:1318299 D RGD:9068941 20220825 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 8926288 Kif20b kinesin family member 20B gene DOID:630 genetic disease ISO RGD:1318298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926325 Mis18a MIS18 kinetochore protein A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1321877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8926325 Mis18a MIS18 kinetochore protein A gene DOID:0060898 Parkinson's disease 20 ISO RGD:1321877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8926325 Mis18a MIS18 kinetochore protein A gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1321877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8926325 Mis18a MIS18 kinetochore protein A gene DOID:630 genetic disease ISO RGD:1321877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926325 Mis18a MIS18 kinetochore protein A gene DOID:9005698 ZTTK Syndrome ISO RGD:1321877 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8926343 Znf764 zinc finger protein 764 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1606477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8926343 Znf764 zinc finger protein 764 gene DOID:630 genetic disease ISO RGD:1606477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926354 Ubxn11 UBX domain protein 11 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:737092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8926354 Ubxn11 UBX domain protein 11 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:737092 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8926354 Ubxn11 UBX domain protein 11 gene DOID:5409 lung small cell carcinoma ISO RGD:737092 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma 8926354 Ubxn11 UBX domain protein 11 gene DOID:630 genetic disease ISO RGD:737092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926387 Gtf2h1 general transcription factor IIH subunit 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1317878 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8926387 Gtf2h1 general transcription factor IIH subunit 1 gene DOID:1059 intellectual disability ISO RGD:1317878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8926387 Gtf2h1 general transcription factor IIH subunit 1 gene DOID:1062 Fanconi syndrome ISO RGD:1317878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XI PMID:28492532 8926387 Gtf2h1 general transcription factor IIH subunit 1 gene DOID:630 genetic disease ISO RGD:1317878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926387 Gtf2h1 general transcription factor IIH subunit 1 gene DOID:9003665 Glycogen Storage Disease XI ISO RGD:1317878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lactate dehydrogenase deficiency type A PMID:28492532 8926409 Bnipl BCL2 interacting protein like gene DOID:0111940 immunodeficiency 42 ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8926409 Bnipl BCL2 interacting protein like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8926409 Bnipl BCL2 interacting protein like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8926409 Bnipl BCL2 interacting protein like gene DOID:1540 parathyroid carcinoma ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8926409 Bnipl BCL2 interacting protein like gene DOID:5812 MHC class II deficiency ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8926409 Bnipl BCL2 interacting protein like gene DOID:630 genetic disease ISO RGD:1319839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926409 Bnipl BCL2 interacting protein like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319839 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8926439 Spata22 spermatogenesis associated 22 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1606760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:28492532 8926439 Spata22 spermatogenesis associated 22 gene DOID:0111708 focal nonepidermolytic palmoplantar keratoderma ISO RGD:1606760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma 8926439 Spata22 spermatogenesis associated 22 gene DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques ISO RGD:1606760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 1 8926439 Spata22 spermatogenesis associated 22 gene DOID:1059 intellectual disability ISO RGD:1606760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28101991|PMID:28492532|PMID:29453510 8926439 Spata22 spermatogenesis associated 22 gene DOID:3613 Canavan disease ISO RGD:1606760 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Canavan Disease, Familial Form | ClinVar Annotator: match by term: Mild Canavan disease | ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10407784|PMID:10564886|PMID:10701101|PMID:10704428|PMID:10724099|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:14567959|PMID:15243987|PMID:16138249|PMID:16199547|PMID:16217711|PMID:16437572|PMID:16802711|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:17576681|PMID:17999961|PMID:18070137|PMID:18280251|PMID:18978679|PMID:19685155|PMID:20129749|PMID:20301412|PMID:21228398|PMID:21520333|PMID:21907889|PMID:22019069|PMID:22219087|PMID:22468686|PMID:22611636|PMID:22750302|PMID:22850825|PMID:22878930|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:24036223|PMID:25003821|PMID:25107638|PMID:25497124|PMID:25668701|PMID:25741868|PMID:26586007|PMID:26992473|PMID:27457812|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:29453510|PMID:31839386|PMID:32403196|PMID:33547378|PMID:34011350|PMID:34316023|PMID:34446995|PMID:7599639|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9452117|PMID:9536098|PMID:9887384 8926439 Spata22 spermatogenesis associated 22 gene DOID:630 genetic disease ISO RGD:1606760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10407784|PMID:10909858|PMID:11238686|PMID:12205125|PMID:12638939|PMID:16217711|PMID:16437572|PMID:16854607|PMID:17027983|PMID:17194761|PMID:17391648|PMID:18070137|PMID:18293939|PMID:20301412|PMID:21228398|PMID:22750302|PMID:22850825|PMID:23233226|PMID:23253610|PMID:23971085|PMID:24033266|PMID:25003821|PMID:25107638|PMID:25668701|PMID:25741868|PMID:26586007|PMID:27531131|PMID:27927234|PMID:28101991|PMID:28492532|PMID:34011350|PMID:7668285|PMID:8023850|PMID:8037206|PMID:8088831|PMID:8252036|PMID:8659549|PMID:9887384 8926461 Mecr mitochondrial trans-2-enoyl-CoA reductase gene DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities ISO RGD:733084 D RGD:7240710 20190315 OMIM 8926461 Mecr mitochondrial trans-2-enoyl-CoA reductase gene DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities ISO RGD:733084 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities PMID:17576681|PMID:25741868|PMID:27817865|PMID:28492532|PMID:31070877|PMID:31137067|PMID:31160820|PMID:32313153|PMID:32445240|PMID:33401012|PMID:34052969|PMID:37734847|PMID:9536098 8926461 Mecr mitochondrial trans-2-enoyl-CoA reductase gene DOID:5723 optic atrophy ISO RGD:733084 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:17576681|PMID:25741868|PMID:27817865|PMID:28492532|PMID:31070877|PMID:31137067|PMID:31160820|PMID:32313153|PMID:32445240|PMID:34052969|PMID:37734847|PMID:9536098 8926461 Mecr mitochondrial trans-2-enoyl-CoA reductase gene DOID:630 genetic disease ISO RGD:733084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8926461 Mecr mitochondrial trans-2-enoyl-CoA reductase gene DOID:700 mitochondrial metabolism disease ISO RGD:733084 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:17576681|PMID:25741868|PMID:27817865|PMID:28492532|PMID:31070877|PMID:31160820|PMID:32445240|PMID:34052969|PMID:9536098 8926461 Mecr mitochondrial trans-2-enoyl-CoA reductase gene DOID:9004908 Optic Atrophy 16 ISO RGD:733084 D RGD:7240710 20231206 OMIM 8926461 Mecr mitochondrial trans-2-enoyl-CoA reductase gene DOID:9004908 Optic Atrophy 16 ISO RGD:733084 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Optic atrophy 16 PMID:25741868|PMID:27817865|PMID:28492532|PMID:31137067|PMID:32313153|PMID:37734847 8926496 Defb118 defensin beta 118 gene DOID:630 genetic disease ISO RGD:1344518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926503 Dennd5a DENN domain containing 5A gene DOID:0080441 developmental and epileptic encephalopathy 49 ISO RGD:1315561 D RGD:7240710 20190315 OMIM 8926503 Dennd5a DENN domain containing 5A gene DOID:0080441 developmental and epileptic encephalopathy 49 ISO RGD:1315561 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 49 PMID:16199547|PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532 8926503 Dennd5a DENN domain containing 5A gene DOID:1826 epilepsy ISO RGD:1315561 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532 8926503 Dennd5a DENN domain containing 5A gene DOID:630 genetic disease ISO RGD:1315561 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27431290|PMID:27866705|PMID:28492532 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:0080653 urolithiasis ISO RGD:68383 D RGD:9068941 20200609 RGD protein:increased activity:kidney: PMID:9471053|REF_RGD_ID:11040514 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:0080653 urolithiasis ISO RGD:68554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9471053 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:68554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:68554 D RGD:7240710 20180130 OMIM 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 ISO RGD:68554 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF | ClinVar Annotator: match by term: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III | ClinVar Annotator: match by term: GGCX-related condition | ClinVar Annotator: match by term: GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT PMID:10934213|PMID:11071668|PMID:15287948|PMID:16720838|PMID:17110937|PMID:17144668|PMID:17327402|PMID:18800149|PMID:20075945|PMID:2145029|PMID:24520408|PMID:25151188|PMID:25264593|PMID:25741868|PMID:28125048|PMID:28492532|PMID:31727138|PMID:32935436|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475|PMID:9845520 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:11249 vitamin K deficiency bleeding no_association ISO RGD:68554 D RGD:9068941 20200609 RGD PMID:11154138|REF_RGD_ID:11040513 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:1247 blood coagulation disease ISO RGD:68554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19141161 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:1588 thrombocytopenia ISO RGD:68554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:32935436 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:2213 hemorrhagic disease ISO RGD:68554 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:32935436 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:3393 coronary artery disease ISO RGD:68554 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:630 genetic disease ISO RGD:68554 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:9002557 Inherited Blood Coagulation Disease ISO RGD:68554 D RGD:9068941 20200609 RGD mutation: L394R PMID:9845520|REF_RGD_ID:1598791 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:9003245 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency ISO RGD:68554 D RGD:7240710 20180130 OMIM 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:9003245 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency ISO RGD:68554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency PMID:17110937|PMID:17576681|PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:29175035|PMID:32935436|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475|PMID:9536098|PMID:9615107 8926538 Ggcx gamma-glutamyl carboxylase gene DOID:9004931 Coagulation Protein Disorders ISO RGD:68554 D RGD:9068941 20200609 RGD mutation: L394R PMID:9845520|REF_RGD_ID:1598791 8926564 Slc1a4 solute carrier family 1 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1345199 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8926564 Slc1a4 solute carrier family 1 member 4 gene DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly ISO RGD:1345199 D RGD:7240710 20180130 OMIM 8926564 Slc1a4 solute carrier family 1 member 4 gene DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly ISO RGD:1345199 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly PMID:25741868|PMID:25930971|PMID:26041762|PMID:26138499|PMID:27193218|PMID:27848944|PMID:28327206|PMID:2837306|PMID:28492532|PMID:29989513|PMID:30125339|PMID:32404165|PMID:34174466 8926564 Slc1a4 solute carrier family 1 member 4 gene DOID:10907 microcephaly ISO RGD:1345199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8926564 Slc1a4 solute carrier family 1 member 4 gene DOID:630 genetic disease ISO RGD:1345199 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26041762|PMID:27193218|PMID:28327206|PMID:2837306|PMID:28492532|PMID:34174466 8926591 Adra1d adrenoceptor alpha 1D gene DOID:0090103 Huntington's disease-like 1 ISO RGD:734051 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8926591 Adra1d adrenoceptor alpha 1D gene DOID:11612 polycystic ovary syndrome ISO RGD:62064 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 8926591 Adra1d adrenoceptor alpha 1D gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:734051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8926591 Adra1d adrenoceptor alpha 1D gene DOID:630 genetic disease ISO RGD:734051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926591 Adra1d adrenoceptor alpha 1D gene DOID:9775 diastolic heart failure ISO RGD:734051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8926604 Cenph centromere protein H gene DOID:630 genetic disease ISO RGD:1312617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926604 Cenph centromere protein H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8926604 Cenph centromere protein H gene DOID:9007479 Habitual Abortions ISO RGD:1312617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 8926614 Mrps11 mitochondrial ribosomal protein S11 gene DOID:2717 Bloom syndrome ISO RGD:1350817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8926614 Mrps11 mitochondrial ribosomal protein S11 gene DOID:630 genetic disease ISO RGD:1350817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926614 Mrps11 mitochondrial ribosomal protein S11 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8926614 Mrps11 mitochondrial ribosomal protein S11 gene DOID:9000918 Disease Progression ISO RGD:1350817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8926614 Mrps11 mitochondrial ribosomal protein S11 gene DOID:9256 colorectal cancer ISO RGD:1350817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8926624 Mga MAX dimerization protein MGA gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1351170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8926624 Mga MAX dimerization protein MGA gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1351170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413735 8926624 Mga MAX dimerization protein MGA gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1351170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 8926624 Mga MAX dimerization protein MGA gene DOID:2717 Bloom syndrome ISO RGD:1351170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8926624 Mga MAX dimerization protein MGA gene DOID:630 genetic disease ISO RGD:1351170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926624 Mga MAX dimerization protein MGA gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8926624 Mga MAX dimerization protein MGA gene DOID:9256 colorectal cancer ISO RGD:1351170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8926624 Mga MAX dimerization protein MGA gene DOID:9538 multiple myeloma ISO RGD:1351170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:0050581 brachydactyly ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1601867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:0080204 renal hypoplasia ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:1059 intellectual disability ISO RGD:1601867 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:1059 intellectual disability ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:1168 familial hyperlipidemia ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperlipidemia PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:2256 osteochondrodysplasia ISO RGD:1601867 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:3138 acanthosis nigricans ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:630 genetic disease ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:9001793 Generalized Epilepsy ISO RGD:1601867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:9002745 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures ISO RGD:1601867 D RGD:7240710 20190315 OMIM 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:9002745 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures ISO RGD:1601867 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Short stature, brachydactyly, intellectual developmental disability, and seizures PMID:16199547|PMID:25741868|PMID:2643702|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392|PMID:34244600|PMID:36399134 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:9003808 Progressive Myoclonus Epilepsy 12 ISO RGD:1601867 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 PMID:25741868|PMID:33085104 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601867 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:16199547|PMID:25741868|PMID:2643702|PMID:26437029|PMID:27718516|PMID:28492532|PMID:36399134 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1601867 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:33085104 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:9007661 Dwarfism ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:9007692 Insulin Resistance ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insulin resistance PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:9452 steatotic liver disease ISO RGD:1601867 D RGD:8554872 20231205 ClinVar ClinVar Annotator: match by term: Hepatic steatosis PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 8926674 Prmt7 protein arginine methyltransferase 7 gene DOID:9970 obesity ISO RGD:1601867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:26437029|PMID:27718516|PMID:28492532|PMID:28902392 8926699 Elf4 E74 like ETS transcription factor 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8926699 Elf4 E74 like ETS transcription factor 4 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1351734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 8926699 Elf4 E74 like ETS transcription factor 4 gene DOID:12849 autistic disorder ISO RGD:1351734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8926699 Elf4 E74 like ETS transcription factor 4 gene DOID:630 genetic disease ISO RGD:1351734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926699 Elf4 E74 like ETS transcription factor 4 gene DOID:9005800 AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 ISO RGD:1351734 D RGD:7240710 20220615 OMIM 8926699 Elf4 E74 like ETS transcription factor 4 gene DOID:9005800 AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 ISO RGD:1351734 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 PMID:25741868|PMID:27932483|PMID:34326534|PMID:35266071 8926719 Agbl1 AGBL carboxypeptidase 1 gene DOID:2717 Bloom syndrome ISO RGD:1345768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8926719 Agbl1 AGBL carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:1345768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8926719 Agbl1 AGBL carboxypeptidase 1 gene DOID:9007217 Corneal Dystrophy, Fuchs Endothelial, 8 ISO RGD:1345768 D RGD:7240710 20180130 OMIM 8926719 Agbl1 AGBL carboxypeptidase 1 gene DOID:9007217 Corneal Dystrophy, Fuchs Endothelial, 8 ISO RGD:1345768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8 PMID:24094747|PMID:25741868 8926719 Agbl1 AGBL carboxypeptidase 1 gene DOID:9256 colorectal cancer ISO RGD:1345768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8926776 Fggy FGGY carbohydrate kinase domain containing gene DOID:1059 intellectual disability ISO RGD:1605365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8926776 Fggy FGGY carbohydrate kinase domain containing gene DOID:630 genetic disease ISO RGD:1605365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926776 Fggy FGGY carbohydrate kinase domain containing gene DOID:9004657 Weight Gain ISO RGD:1605365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29220483 8926776 Fggy FGGY carbohydrate kinase domain containing gene DOID:9970 obesity ISO RGD:1605365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29220483 8926813 Camp cathelicidin antimicrobial peptide gene DOID:0080600 COVID-19 ISO RGD:1343513 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8926813 Camp cathelicidin antimicrobial peptide gene DOID:630 genetic disease ISO RGD:1343513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926813 Camp cathelicidin antimicrobial peptide gene DOID:8881 rosacea ISO RGD:1343513 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35926563 8926813 Camp cathelicidin antimicrobial peptide gene DOID:9000113 Pneumococcal Meningitis ISO RGD:1559878 D RGD:9068941 20200609 RGD protein:increased expression:brain, coronal section (rat) PMID:19879657|REF_RGD_ID:2316237 8926813 Camp cathelicidin antimicrobial peptide gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1343513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8926813 Camp cathelicidin antimicrobial peptide gene DOID:9004484 Sepsis ISO RGD:1559878 D RGD:9068941 20200609 RGD PMID:17142779|REF_RGD_ID:2316243 8926813 Camp cathelicidin antimicrobial peptide gene DOID:9006976 Erythema ISO RGD:1343513 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35926563 8926827 Pals1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1317631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 8926827 Pals1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:14791 Leber congenital amaurosis ISO RGD:1317632 D RGD:9068941 20220825 MouseDO 8926827 Pals1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:1969 cerebral palsy ISO RGD:1317631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:33073849 8926827 Pals1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:630 genetic disease ISO RGD:1317631 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926827 Pals1 protein associated with LIN7 1, MAGUK p55 family member gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1317631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:25741868|PMID:33073849 8926852 A4gnt alpha-1,4-N-acetylglucosaminyltransferase gene DOID:1793 pancreatic cancer ISO RGD:1348447 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell PMID:16441422|REF_RGD_ID:2325199 8926852 A4gnt alpha-1,4-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1348447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926856 Adgrl3 adhesion G protein-coupled receptor L3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1353351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22405201 8926856 Adgrl3 adhesion G protein-coupled receptor L3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1553247 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 8926856 Adgrl3 adhesion G protein-coupled receptor L3 gene DOID:630 genetic disease ISO RGD:1353351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926856 Adgrl3 adhesion G protein-coupled receptor L3 gene DOID:9004009 Reperfusion Injury ISO RGD:620836 D RGD:9068941 20200609 RGD PMID:12225880|REF_RGD_ID:2314400 8926856 Adgrl3 adhesion G protein-coupled receptor L3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:0050848 obstructive sleep apnea ISO RGD:632283 D RGD:9068941 20200609 RGD protein:decreased expression:growth plate: PMID:26943473|REF_RGD_ID:11573409 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:0060180 colitis ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19617644 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:0080011 bone resorption disease ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29477364 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:0080074 neural tube defect ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17400914 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:10808 gastric ulcer ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15177919|PMID:16259727 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:11981 morbid obesity ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:19188925|REF_RGD_ID:2313745 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:11983 Prader-Willi syndrome ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:15057669|REF_RGD_ID:12905043 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:1287 cardiovascular system disease ISO RGD:730950 D RGD:9068941 20200609 RGD In dialysis patients PMID:20930430|REF_RGD_ID:7242429 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:1596 depressive disorder ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19272368 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:299 adenocarcinoma ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:3021 acute kidney failure ISO RGD:732655 D RGD:9068941 20200609 RGD PMID:19625378|REF_RGD_ID:7242430 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:3125 multiple endocrine neoplasia ISO RGD:632283 D RGD:9068941 20200609 RGD protein:increased expression:pancreas,serum: PMID:26512025|REF_RGD_ID:12904888 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:19352052|REF_RGD_ID:9850083 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:730950 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs696217) (human) PMID:21472143|REF_RGD_ID:126925218 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:6000 congestive heart failure ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20572026 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:630 genetic disease ISO RGD:730950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:783 end stage renal disease ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:18809976|REF_RGD_ID:7242553 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:8577 ulcerative colitis ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19617644 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9000117 Esophageal Neoplasms ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730950 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma PMID:19046237|REF_RGD_ID:2313747 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9002231 Fetal Growth Retardation disease_progression ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:20637157|REF_RGD_ID:12904883 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9002661 Diabetes Complications ISO RGD:730950 D RGD:9068941 20200609 RGD protein: decreased expression: serum PMID:18025762|REF_RGD_ID:7242563 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:19620309|REF_RGD_ID:12905041 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:21642627|REF_RGD_ID:12904963 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9002955 Nerve Degeneration ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19429016 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9003139 Cardiac Fibrosis disease_progression ISO RGD:632283 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:plasma,myocardia: PMID:16626506|REF_RGD_ID:12907503 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:16626506|REF_RGD_ID:12907503 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9004009 Reperfusion Injury ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16581065 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9004484 Sepsis ISO RGD:632283 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:aorta,heart, intestine, plasma: PMID:15155262|REF_RGD_ID:12905047 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9004657 Weight Gain ISO RGD:730950 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:16493877|PMID:33301842 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9005154 Myoclonic Epilepsies ISO RGD:730950 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17407494 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732655 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18657539|REF_RGD_ID:2313750 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9005643 Experimental Diabetes Mellitus disease_progression ISO RGD:632283 D RGD:9068941 20200609 RGD PMID:23965296|REF_RGD_ID:12905048 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9006646 Metabolic Syndrome ISO RGD:730950 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to PMID:11502844|PMID:12050239|PMID:12161552|PMID:16204371|PMID:25741868 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9007102 Myocardial Ischemia disease_progression ISO RGD:632283 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:plasma,myocardia: PMID:16626506|REF_RGD_ID:12907503 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:16626506|REF_RGD_ID:12907503 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9007346 Cachexia ISO RGD:730950 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17347304 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9007346 Cachexia ISO RGD:730950 D RGD:9068941 20200609 RGD PMID:12576449|REF_RGD_ID:7242556 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9007661 Dwarfism ISO RGD:730950 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20861603|REF_RGD_ID:12904881 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:730950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730950 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.L72M (human) PMID:18848536|REF_RGD_ID:2313749 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9743 diabetic neuropathy ISO RGD:730950 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19733151|REF_RGD_ID:2313744 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9970 obesity ISO RGD:730950 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, age at onset of PMID:11502844|PMID:12050239|PMID:12161552|PMID:16204371|PMID:25741868 8926926 Ghrl ghrelin and obestatin prepropeptide gene DOID:9970 obesity susceptibility ISO RGD:730950 D RGD:7240710 20230505 OMIM 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:0050424 familial adenomatous polyposis severity ISO RGD:14209790 D RGD:9068941 20211126 RGD DNA:SNPs,haplotype:promoter:multiple (pig) PMID:32717306|REF_RGD_ID:150524307 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:0070004 myeloid neoplasm ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:18971950 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:0080006 bone development disease ISO RGD:2425 D RGD:9068941 20210416 RGD PMID:30249809|REF_RGD_ID:41404725 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:0080199 colorectal carcinoma ISO RGD:737004 D RGD:9068941 20220929 RGD mRNA:decreased expression:colorectal mucosa (human) PMID:28675510|REF_RGD_ID:150524297 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:737004 D RGD:7240710 20180130 OMIM 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ISO RGD:737004 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CSF1R-related condition | ClinVar Annotator: match by term: Hereditary diffuse leukoencephalopathy with spheroids | ClinVar Annotator: match by term: Leukoencephalopathy, diffuse hereditary, with spheroids 1 PMID:16523341|PMID:19153373|PMID:22197934|PMID:22503135|PMID:22934315|PMID:23038421|PMID:23408870|PMID:23411710|PMID:23649896|PMID:23816250|PMID:24034409|PMID:24088041|PMID:24094860|PMID:24120500|PMID:24145216|PMID:24198292|PMID:24336230|PMID:24532199|PMID:2470618|PMID:24706185|PMID:25012610|PMID:25311247|PMID:25563800|PMID:25741868|PMID:25863088|PMID:26141177|PMID:26141825|PMID:26633545|PMID:27619214|PMID:27680516|PMID:28025469|PMID:28492532|PMID:28824062|PMID:28843019|PMID:29389947|PMID:29544907|PMID:30268725|PMID:30279455|PMID:30528841|PMID:30661751|PMID:30982609|PMID:31705326|PMID:31872055|PMID:32055602|PMID:34652888|PMID:35119108|PMID:8614507 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:0080855 Parkinsonism ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:25741868 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:10534 stomach cancer exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:increased expression:stomach (human) PMID:29767252|REF_RGD_ID:150524281 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:10652 Alzheimer's disease ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:30279455 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:13139 crescentic glomerulonephritis treatment ISO RGD:2425 D RGD:9068941 20220407 RGD PMID:23408165|REF_RGD_ID:151665815 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:1324 lung cancer exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:29323162|REF_RGD_ID:150524284 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:1324 lung cancer susceptibility ISO RGD:737004 D RGD:9068941 20211126 RGD DNA:missense mutation:CDS:p.H362R (rs10079250) (human) PMID:25144241|REF_RGD_ID:150524283 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:14566 disease of cellular proliferation ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:2406720|PMID:25157968 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:1612 breast cancer disease_progression ISO RGD:737004 D RGD:9068941 20200609 RGD PMID:14734466|REF_RGD_ID:2293711 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:1612 breast cancer treatment ISO RGD:10412 D RGD:9068941 20211126 RGD PMID:25385645|REF_RGD_ID:150524304 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:10412 D RGD:9068941 20211126 RGD mouse cell line in a mouse model PMID:24898549|PMID:29436396|REF_RGD_ID:150524289|REF_RGD_ID:150524303 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:737004 D RGD:9068941 20211126 RGD human cells in a mouse model PMID:32304779|REF_RGD_ID:150524290 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:3021 acute kidney failure ISO RGD:10412 D RGD:9068941 20200609 RGD PMID:23143303|REF_RGD_ID:7257565 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:3744 cervical squamous cell carcinoma ISO RGD:737004 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18565574|REF_RGD_ID:2299119 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:decreased expression:esophagus squamous epithelium (human) PMID:32038997|REF_RGD_ID:150524298 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:3907 lung squamous cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:23702648|REF_RGD_ID:150524280 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA,protein:increased expression:lung (human) PMID:33428598|REF_RGD_ID:150524295 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:decreased expression:lung (human) PMID:24451080|REF_RGD_ID:150524294 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:737004 D RGD:9068941 20211126 RGD human cells in a mouse model PMID:27486763|REF_RGD_ID:150524288 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737004 D RGD:9068941 20211126 RGD DNA:missense mutation:CDS:p.H362R (rs10079250) (human) PMID:28449811|REF_RGD_ID:150524292 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:3910 lung adenocarcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:23702648|REF_RGD_ID:150524280 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:4450 renal cell carcinoma ISO RGD:737004 D RGD:9068941 20200609 RGD PMID:22052465|REF_RGD_ID:7257566 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:4450 renal cell carcinoma ISO RGD:737004 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18592004|REF_RGD_ID:2299092 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:4450 renal cell carcinoma treatment ISO RGD:10412 D RGD:9068941 20211126 RGD mouse cell line in a mouse model PMID:32302573|REF_RGD_ID:150524293 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:4780 anti-basement membrane glomerulonephritis ameliorates ISO RGD:2425 D RGD:9068941 20220407 RGD PMID:21519331|REF_RGD_ID:151665824 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:2425 D RGD:9068941 20200609 RGD PMID:19242505|REF_RGD_ID:7257569 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:5082 liver cirrhosis exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD associated with hepatitis C, liver cirrhosis;protein:increased expression:serum (human) PMID:26437001|REF_RGD_ID:11079330 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:5199 ureteral obstruction ISO RGD:10412 D RGD:9068941 20200609 RGD protein:increased expression:kidney, macrophage PMID:16951369|REF_RGD_ID:7257574 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:5223 infertility ISO RGD:2425 D RGD:9068941 20210416 RGD PMID:30249809|REF_RGD_ID:41404725 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:5409 lung small cell carcinoma exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:lung (human) PMID:1390197|REF_RGD_ID:150524305 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:614 lymphopenia ISO RGD:2425 D RGD:9068941 20210416 RGD PMID:30249809|REF_RGD_ID:41404725 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:630 genetic disease ISO RGD:737004 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24120500|PMID:24145216|PMID:24336230|PMID:25741868|PMID:28492532|PMID:30982609|PMID:33084218 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression: liver (human) PMID:32760707|REF_RGD_ID:150524286 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma ISO RGD:737004 D RGD:9068941 20211126 RGD protein:increased expression:liver (human) PMID:14969845|REF_RGD_ID:150524302 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD DNA:hypomethylation PMID:11412385|REF_RGD_ID:150524301 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:increased expression:liver (human) PMID:20551429|REF_RGD_ID:150524279 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:684 hepatocellular carcinoma severity ISO RGD:737004 D RGD:9068941 20211126 RGD DNA:hypomethylation:promoter (human) PMID:32724427|REF_RGD_ID:150524282 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:7474 malignant pleural mesothelioma ISO RGD:737004 D RGD:9068941 20211126 RGD mRNA:increased expression:peritoneum�� (human) PMID:24722292|REF_RGD_ID:150524278 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:8634 prostate carcinoma in situ ISO RGD:737004 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:12381783|REF_RGD_ID:2293712 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:737004 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18565574|REF_RGD_ID:2299119 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9000081 Lymphatic Metastasis ISO RGD:737004 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:14734466|REF_RGD_ID:2293711 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:10412 D RGD:9068941 20211126 RGD PMID:23451116|REF_RGD_ID:150524300 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1390197 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:737004 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:18510570|REF_RGD_ID:2293638 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9000965 Neoplasm Metastasis exacerbates ISO RGD:10412 D RGD:9068941 20211126 RGD associated with breast cancer PMID:25005824|REF_RGD_ID:150524287 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:2425 D RGD:9068941 20220331 RGD mRNA,protein:increased expression:kidney (rat) PMID:32141565|REF_RGD_ID:151665767 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:10412 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:19466391|REF_RGD_ID:2311340 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:737004 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:12381783|REF_RGD_ID:2293712 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9002438 Foreign-Body Reaction ISO RGD:2425 D RGD:9068941 20220331 RGD PMID:33841088|REF_RGD_ID:151665762 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2425 D RGD:9068941 20220407 RGD PMID:18434589|REF_RGD_ID:151665814 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9002704 Leukoencephalopathies ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197934 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2425 D RGD:9068941 20220331 RGD protein:increased expression:right cerebral hemisphere, astrocyte, neuron (rat) PMID:33101590|REF_RGD_ID:151665766 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9003676 Brain Hypoxia-Ischemia exacerbates ISO RGD:2425 D RGD:9068941 20220331 RGD PMID:32522286|REF_RGD_ID:151665765 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9003690 Carcinoma, Lewis Lung ameliorates ISO RGD:10412 D RGD:9068941 20211126 RGD mouse cell line in a mouse model PMID:20008303|REF_RGD_ID:150524291 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9004283 Transplant Rejection ISO RGD:2425 D RGD:9068941 20220407 RGD PMID:24056626|REF_RGD_ID:151665812 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2425 D RGD:9068941 20220407 RGD mRNA,protein:increased expression:retina (rat) PMID:19219684|REF_RGD_ID:151665779 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9005822 BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS ISO RGD:737004 D RGD:7240710 20190807 OMIM 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9005822 BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS ISO RGD:737004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brain abnormalities, neurodegeneration, and dysosteosclerosis PMID:22503135|PMID:23408870|PMID:24120500|PMID:24145216|PMID:24336230|PMID:25563800|PMID:25741868|PMID:28492532|PMID:30982608|PMID:30982609|PMID:32055602|PMID:8614507 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9006182 Carotid Artery Injuries ISO RGD:2425 D RGD:9068941 20220407 RGD mRNA, protein:increased expression: carotid artery endothelium (rat) PMID:27135205|REF_RGD_ID:151665776 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10412 D RGD:9068941 20200609 RGD PMID:23143303|REF_RGD_ID:7257565 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9006532 Hematologic Neoplasms ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:18971950|PMID:2406720|PMID:25157968 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737004 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9008091 Optic Nerve Injuries ISO RGD:2425 D RGD:9068941 20220407 RGD mRNA:increased expression:retina (rat) PMID:20187850|REF_RGD_ID:151665810 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16618760 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:737004 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1390197 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:9068941 20211126 RGD DNA:mutation:exon 9: (human) PMID:21171987|REF_RGD_ID:149735515 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9255 frontotemporal dementia ISO RGD:737004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9256 colorectal cancer exacerbates ISO RGD:737004 D RGD:9068941 20211126 RGD protein:decreased expression:colorectum (human) PMID:32118593|REF_RGD_ID:150524285 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:737004 D RGD:9068941 20211126 RGD PMID:22267178|REF_RGD_ID:150524299 8926938 Csf1r colony stimulating factor 1 receptor gene DOID:9351 diabetes mellitus ISO RGD:737004 D RGD:9068941 20211126 RGD associated with hepatocellular��carcinoma;DNA:hypermethylation:promoter (human) PMID:32724427|REF_RGD_ID:150524282 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:630 genetic disease ISO RGD:1319575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8926982 Mrpl20 mitochondrial ribosomal protein L20 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8927001 Atg2b autophagy related 2B gene DOID:0070004 myeloid neoplasm ISO RGD:1312572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 8927001 Atg2b autophagy related 2B gene DOID:2224 essential thrombocythemia ISO RGD:1312572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 8927001 Atg2b autophagy related 2B gene DOID:4971 myelofibrosis ISO RGD:1312572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis 8927001 Atg2b autophagy related 2B gene DOID:630 genetic disease ISO RGD:1312572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927001 Atg2b autophagy related 2B gene DOID:8692 myeloid leukemia ISO RGD:1312572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26280900 8927001 Atg2b autophagy related 2B gene DOID:9119 acute myeloid leukemia ISO RGD:1312572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8927055 Pcdh11x protocadherin 11 X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8927055 Pcdh11x protocadherin 11 X-linked gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1353305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 8927055 Pcdh11x protocadherin 11 X-linked gene DOID:10652 Alzheimer's disease ISO RGD:1353305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:29476165 8927055 Pcdh11x protocadherin 11 X-linked gene DOID:12849 autistic disorder ISO RGD:1353305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8927055 Pcdh11x protocadherin 11 X-linked gene DOID:630 genetic disease ISO RGD:1353305 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8927099 Klf11 KLF transcription factor 11 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:1605424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25741868 8927099 Klf11 KLF transcription factor 11 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1605424 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15774581|PMID:18199129|PMID:25741868|PMID:28492532|PMID:34393998 8927099 Klf11 KLF transcription factor 11 gene DOID:0111106 maturity-onset diabetes of the young type 7 ISO RGD:1605424 D RGD:7240710 20180130 OMIM 8927099 Klf11 KLF transcription factor 11 gene DOID:0111106 maturity-onset diabetes of the young type 7 ISO RGD:1605424 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: KLF11-related condition | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 7 PMID:15774581|PMID:16199547|PMID:17130512|PMID:18199129|PMID:18593768|PMID:19122346|PMID:19843526|PMID:23589285|PMID:25741868|PMID:28492532|PMID:29758564|PMID:31124255|PMID:32041611|PMID:33046911|PMID:33538814|PMID:34393998|PMID:35108381 8927099 Klf11 KLF transcription factor 11 gene DOID:630 genetic disease ISO RGD:1605424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8927099 Klf11 KLF transcription factor 11 gene DOID:9005369 Hepatomegaly ISO RGD:1605424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8927099 Klf11 KLF transcription factor 11 gene DOID:9007692 Insulin Resistance ISO RGD:1605424 D RGD:9068941 20200609 RGD PMID:18505768|REF_RGD_ID:2311539 8927099 Klf11 KLF transcription factor 11 gene DOID:9351 diabetes mellitus ISO RGD:1605424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:15774581|PMID:17130512|PMID:18414213|PMID:18593768|PMID:19122346|PMID:19843526|PMID:25741868|PMID:28492532|PMID:33538814 8927099 Klf11 KLF transcription factor 11 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1605424 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:15774581|PMID:18199129|PMID:25741868|PMID:28492532|PMID:34393998 8927112 Mybpc1 myosin binding protein C1 gene DOID:0050646 distal arthrogryposis ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis PMID:25741868 8927112 Mybpc1 myosin binding protein C1 gene DOID:0060654 lethal congenital contracture syndrome 4 ISO RGD:1351602 D RGD:7240710 20180130 OMIM 8927112 Mybpc1 myosin binding protein C1 gene DOID:0060654 lethal congenital contracture syndrome 4 ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4 PMID:18414213|PMID:22610851|PMID:25741868 8927112 Mybpc1 myosin binding protein C1 gene DOID:0081337 congenital myopathy ISO RGD:1550682 D RGD:9068941 20230615 MouseDO 8927112 Mybpc1 myosin binding protein C1 gene DOID:0081348 congenital myopathy 16 ISO RGD:1351602 D RGD:7240710 20191016 OMIM 8927112 Mybpc1 myosin binding protein C1 gene DOID:0081348 congenital myopathy 16 ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with tremor PMID:18414213|PMID:22610851|PMID:25741868|PMID:28492532|PMID:31025394|PMID:31264822 8927112 Mybpc1 myosin binding protein C1 gene DOID:0111598 distal arthrogryposis type 1B ISO RGD:1351602 D RGD:7240710 20180130 OMIM 8927112 Mybpc1 myosin binding protein C1 gene DOID:0111598 distal arthrogryposis type 1B ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B PMID:18414213|PMID:20045868|PMID:22415774|PMID:23657818|PMID:23873045|PMID:25741868|PMID:26287277|PMID:28492532 8927112 Mybpc1 myosin binding protein C1 gene DOID:630 genetic disease ISO RGD:1351602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31025394|PMID:31264822 8927178 Lias lipoic acid synthetase gene DOID:3770 pulmonary fibrosis ISO RGD:1316364 D RGD:9068941 20200806 CTD CTD Direct Evidence: therapeutic PMID:32017981 8927178 Lias lipoic acid synthetase gene DOID:552 pneumonia ISO RGD:1316364 D RGD:9068941 20200806 CTD CTD Direct Evidence: therapeutic PMID:32017981 8927178 Lias lipoic acid synthetase gene DOID:630 genetic disease ISO RGD:1316364 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532|PMID:28817111 8927178 Lias lipoic acid synthetase gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1316364 D RGD:7240710 20180130 OMIM 8927178 Lias lipoic acid synthetase gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1316364 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency PMID:16199547|PMID:17576681|PMID:2152680|PMID:22152680|PMID:24334290|PMID:25741868|PMID:26108146|PMID:26467025|PMID:27923773|PMID:28492532|PMID:28817111|PMID:36680912|PMID:9536098 8927205 Shfl shiftless antiviral inhibitor of ribosomal frameshifting gene DOID:0070158 hereditary sensory neuropathy type 1E ISO RGD:1605065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA PMID:28492532 8927205 Shfl shiftless antiviral inhibitor of ribosomal frameshifting gene DOID:630 genetic disease ISO RGD:1605065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927221 Fyttd1 forty-two-three domain containing 1 gene DOID:630 genetic disease ISO RGD:1345293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927241 Arrdc1 arrestin domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8927241 Arrdc1 arrestin domain containing 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1320585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8927241 Arrdc1 arrestin domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8927241 Arrdc1 arrestin domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1320585 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8927241 Arrdc1 arrestin domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8927241 Arrdc1 arrestin domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1320585 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8927241 Arrdc1 arrestin domain containing 1 gene DOID:1826 epilepsy ISO RGD:1320585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8927241 Arrdc1 arrestin domain containing 1 gene DOID:630 genetic disease ISO RGD:1320585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927241 Arrdc1 arrestin domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1320585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8927254 Cenpu centromere protein U gene DOID:0080600 COVID-19 ISO RGD:1351502 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8927254 Cenpu centromere protein U gene DOID:630 genetic disease ISO RGD:1351502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927254 Cenpu centromere protein U gene DOID:684 hepatocellular carcinoma ISO RGD:1351502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8927290 Ccdc87 coiled-coil domain containing 87 gene DOID:1059 intellectual disability ISO RGD:1602481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8927290 Ccdc87 coiled-coil domain containing 87 gene DOID:630 genetic disease ISO RGD:1602481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927290 Ccdc87 coiled-coil domain containing 87 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602481 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8927290 Ccdc87 coiled-coil domain containing 87 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8927299 Rspo3 R-spondin 3 gene DOID:630 genetic disease ISO RGD:1345376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927299 Rspo3 R-spondin 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1345376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8927299 Rspo3 R-spondin 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1345376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468756 8927308 Dph5 diphthamide biosynthesis 5 gene DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ISO RGD:1602122 D RGD:7240710 20221109 OMIM 8927308 Dph5 diphthamide biosynthesis 5 gene DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ISO RGD:1602122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties PMID:25741868|PMID:35482014 8927308 Dph5 diphthamide biosynthesis 5 gene DOID:1826 epilepsy ISO RGD:1602122 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8927308 Dph5 diphthamide biosynthesis 5 gene DOID:630 genetic disease ISO RGD:1602122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927308 Dph5 diphthamide biosynthesis 5 gene DOID:9269 maple syrup urine disease ISO RGD:1602122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8927324 Amelx amelogenin X-linked gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:2107 D RGD:9068941 20200609 RGD PMID:15721149|REF_RGD_ID:1599092 8927324 Amelx amelogenin X-linked gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:735379 D RGD:7240710 20180130 OMIM 8927324 Amelx amelogenin X-linked gene DOID:0110058 amelogenesis imperfecta type 1E ISO RGD:735379 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth PMID:10669095|PMID:11201048|PMID:11839357|PMID:11922868|PMID:1483698|PMID:15111628|PMID:1916828|PMID:1967204|PMID:23251683|PMID:25741868|PMID:3169793|PMID:4623931|PMID:5225441|PMID:7599636|PMID:8406474|PMID:9188994 8927324 Amelx amelogenin X-linked gene DOID:12849 autistic disorder ISO RGD:735379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8927324 Amelx amelogenin X-linked gene DOID:13938 amenorrhea ISO RGD:735379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8927324 Amelx amelogenin X-linked gene DOID:2187 amelogenesis imperfecta ISO RGD:735379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 8927324 Amelx amelogenin X-linked gene DOID:630 genetic disease ISO RGD:735379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927324 Amelx amelogenin X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8927331 Ppih peptidylprolyl isomerase H gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8927331 Ppih peptidylprolyl isomerase H gene DOID:630 genetic disease ISO RGD:1347300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927345 Ucp2 uncoupling protein 2 gene DOID:0050770 polycystic liver disease ISO RGD:69171 D RGD:9068941 20220825 MouseDO OMIM:174050 8927345 Ucp2 uncoupling protein 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18543254|REF_RGD_ID:7204434 8927345 Ucp2 uncoupling protein 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69170 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18308829|REF_RGD_ID:7204435 8927345 Ucp2 uncoupling protein 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:21359922|REF_RGD_ID:7175312 8927345 Ucp2 uncoupling protein 2 gene DOID:0080600 COVID-19 ISO RGD:69170 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8927345 Ucp2 uncoupling protein 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:69170 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8927345 Ucp2 uncoupling protein 2 gene DOID:0111100 maturity-onset diabetes of the young type 2 ISO RGD:69170 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 8927345 Ucp2 uncoupling protein 2 gene DOID:1059 intellectual disability ISO RGD:69170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8927345 Ucp2 uncoupling protein 2 gene DOID:10763 hypertension ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685210 8927345 Ucp2 uncoupling protein 2 gene DOID:10763 hypertension ISO RGD:69170 D RGD:9068941 20200609 RGD PMID:15106800|REF_RGD_ID:1580794 8927345 Ucp2 uncoupling protein 2 gene DOID:10763 hypertension treatment ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:20404217|REF_RGD_ID:7175297 8927345 Ucp2 uncoupling protein 2 gene DOID:12858 Huntington's disease ISO RGD:69170 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood (human) PMID:23029535|REF_RGD_ID:10045655 8927345 Ucp2 uncoupling protein 2 gene DOID:13603 obstructive jaundice ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:19632092|REF_RGD_ID:7204429 8927345 Ucp2 uncoupling protein 2 gene DOID:1459 hypothyroidism ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:21190599|REF_RGD_ID:7175296 8927345 Ucp2 uncoupling protein 2 gene DOID:2018 hyperinsulinism ISO RGD:69170 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: UCP2-related condition PMID:25741868|PMID:28492532 8927345 Ucp2 uncoupling protein 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:19772611|REF_RGD_ID:7204428 8927345 Ucp2 uncoupling protein 2 gene DOID:2316 brain ischemia ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17052689 8927345 Ucp2 uncoupling protein 2 gene DOID:305 carcinoma ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8927345 Ucp2 uncoupling protein 2 gene DOID:3407 carotid artery disease ISO RGD:69170 D RGD:9068941 20200609 RGD PMID:15604415|REF_RGD_ID:1580793 8927345 Ucp2 uncoupling protein 2 gene DOID:6000 congestive heart failure ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:20193183|REF_RGD_ID:7204426 8927345 Ucp2 uncoupling protein 2 gene DOID:6000 congestive heart failure ISO RGD:3932 D RGD:9068941 20200609 RGD protein:decreased expression:heart, mitochondria PMID:20809120|REF_RGD_ID:7204424 8927345 Ucp2 uncoupling protein 2 gene DOID:630 genetic disease ISO RGD:69170 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8927345 Ucp2 uncoupling protein 2 gene DOID:767 muscular atrophy ISO RGD:69171 D RGD:9068941 20200609 RGD mRNA:altered expression:quadriceps muscle (mouse) PMID:19462004|REF_RGD_ID:10045654 8927345 Ucp2 uncoupling protein 2 gene DOID:783 end stage renal disease ISO RGD:69170 D RGD:9068941 20200609 RGD DNA:deletion PMID:18242170|REF_RGD_ID:7175299 8927345 Ucp2 uncoupling protein 2 gene DOID:783 end stage renal disease susceptibility ISO RGD:69170 D RGD:9068941 20200609 RGD DNA:polymorphism: :-866G>A (human) PMID:19406964|REF_RGD_ID:7175298 8927345 Ucp2 uncoupling protein 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8927345 Ucp2 uncoupling protein 2 gene DOID:9000998 Brain Injuries ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12858170 8927345 Ucp2 uncoupling protein 2 gene DOID:9000998 Brain Injuries ISO RGD:69170 D RGD:9068941 20200609 RGD PMID:12858170|REF_RGD_ID:7204436 8927345 Ucp2 uncoupling protein 2 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22195248|REF_RGD_ID:7175309 8927345 Ucp2 uncoupling protein 2 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69171 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22848482|REF_RGD_ID:7175295 8927345 Ucp2 uncoupling protein 2 gene DOID:9003936 Cardiomegaly ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25703824 8927345 Ucp2 uncoupling protein 2 gene DOID:9004538 Hearing Loss ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cochlea (rat) PMID:22543089|REF_RGD_ID:10045653 8927345 Ucp2 uncoupling protein 2 gene DOID:9004590 Acute Liver Failure ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21272461|REF_RGD_ID:7175313 8927345 Ucp2 uncoupling protein 2 gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:3932 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19104935|REF_RGD_ID:7204431 8927345 Ucp2 uncoupling protein 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8927345 Ucp2 uncoupling protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3932 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:19227473|REF_RGD_ID:2313501 8927345 Ucp2 uncoupling protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563825|PMID:16123366 8927345 Ucp2 uncoupling protein 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:17704287|REF_RGD_ID:2302404 8927345 Ucp2 uncoupling protein 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:3932 D RGD:9068941 20231005 RGD mRNA:decreased expression:liver (rat) PMID:11934685|REF_RGD_ID:628329 8927345 Ucp2 uncoupling protein 2 gene DOID:9007096 Stroke ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12858170 8927345 Ucp2 uncoupling protein 2 gene DOID:9007096 Stroke ISO RGD:69170 D RGD:9068941 20200609 RGD PMID:12858170|REF_RGD_ID:7204436 8927345 Ucp2 uncoupling protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:69170 D RGD:9068941 20200609 RGD DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) PMID:17870627|REF_RGD_ID:2313512 8927345 Ucp2 uncoupling protein 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:19526854|REF_RGD_ID:2313528 8927345 Ucp2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3932 D RGD:9068941 20200609 RGD PMID:18344121|REF_RGD_ID:7175300 8927345 Ucp2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3932 D RGD:9068941 20200609 RGD associated with Obesity PMID:15356383|REF_RGD_ID:2313517 8927345 Ucp2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15562023|PMID:16123366 8927345 Ucp2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69171 D RGD:9068941 20200609 RGD PMID:11440717|REF_RGD_ID:737760 8927345 Ucp2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69171 D RGD:9068941 20200609 RGD mRNA:increased expression:brown fat, white fat, skeletal muscle PMID:11587528|REF_RGD_ID:2313630 8927345 Ucp2 uncoupling protein 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:69170 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:10382588|REF_RGD_ID:2313525 8927345 Ucp2 uncoupling protein 2 gene DOID:9452 steatotic liver disease ISO RGD:3932 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21114362|REF_RGD_ID:7204423 8927345 Ucp2 uncoupling protein 2 gene DOID:9452 steatotic liver disease ISO RGD:69170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 8927345 Ucp2 uncoupling protein 2 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:69170 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism:promoter:-866G>A (rs659366)(human) PMID:16373902|REF_RGD_ID:2313516 8927345 Ucp2 uncoupling protein 2 gene DOID:9965 toxoplasmosis susceptibility ISO RGD:69171 D RGD:9068941 20200609 RGD PMID:11101840|REF_RGD_ID:737759 8927345 Ucp2 uncoupling protein 2 gene DOID:9970 obesity ISO RGD:69170 D RGD:9068941 20240215 CTD CTD Direct Evidence: marker/mechanism PMID:11381268 8927345 Ucp2 uncoupling protein 2 gene DOID:9970 obesity ISO RGD:69170 D RGD:9068941 20240215 RGD DNA:polymorphism, insertion:promoter:-866G>A (rs659366)(human) PMID:17870627|REF_RGD_ID:2313512 8927345 Ucp2 uncoupling protein 2 gene DOID:9970 obesity susceptibility ISO RGD:69170 D RGD:9068941 20240208 RGD DNA:SNPs, insertion/deletion, haplotypes:promoter, 3' utr:-2723T>A, -866G>A, *158_159ins45 (human) PMID:11381268|REF_RGD_ID:737761 8927373 Aqp10 aquaporin 10 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8927373 Aqp10 aquaporin 10 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8927373 Aqp10 aquaporin 10 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8927373 Aqp10 aquaporin 10 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8927373 Aqp10 aquaporin 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8927373 Aqp10 aquaporin 10 gene DOID:5812 MHC class II deficiency ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8927373 Aqp10 aquaporin 10 gene DOID:630 genetic disease ISO RGD:1344809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927373 Aqp10 aquaporin 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0050741 alcohol dependence ameliorates ISO RGD:10686 D RGD:9068941 20231216 RGD PMID:29953905|REF_RGD_ID:401938635 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0050741 alcohol dependence ameliorates ISO RGD:10686 D RGD:9068941 20231216 RGD DNA:mutation:cds:A825W(mouse) PMID:33052417|REF_RGD_ID:401938638 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0050741 alcohol dependence susceptibility ISO RGD:732269 D RGD:9068941 20231216 RGD DNA:repeats:promoter:(GT)n PMID:21507155|REF_RGD_ID:401938633 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060001 withdrawal disorder ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878694 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060001 withdrawal disorder severity ISO RGD:2737 D RGD:9068941 20231221 RGD PMID:23113297|REF_RGD_ID:401938657 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:732269 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:28492532 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:25741868 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:732269 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome PMID:25741868 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:732269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1059 intellectual disability ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:10652 Alzheimer's disease ISO RGD:732269 D RGD:9068941 20200609 RGD PMID:24156266|REF_RGD_ID:13792688 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:10907 microcephaly ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:11206 opioid abuse ISO RGD:732269 D RGD:9068941 20231221 RGD protein:increased expression:orbitofrontal cortex: PMID:29766293|REF_RGD_ID:401938658 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12849 autistic disorder ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15830322 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12858 Huntington's disease ISO RGD:10686 D RGD:9068941 20200609 RGD PMID:17409241|REF_RGD_ID:13432195 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12858 Huntington's disease onset ISO RGD:732269 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1969060 (human) PMID:15742215|REF_RGD_ID:13432556 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:12858 Huntington's disease onset ISO RGD:732269 D RGD:9068941 20200609 RGD DNA:SNPs: :rs8057394, rs2650427 (human) PMID:17569088|REF_RGD_ID:13432554 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1561 cognitive disorder ISO RGD:2737 D RGD:9068941 20200609 RGD associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus PMID:26656067|REF_RGD_ID:13792690 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1824 status epilepticus ISO RGD:2737 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1826 epilepsy ISO RGD:732269 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:23933819|PMID:26467025|PMID:28492532 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:1909 melanoma ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2055 post-traumatic stress disorder treatment ISO RGD:2737 D RGD:9068941 20240104 RGD PMID:28791385|REF_RGD_ID:401940159 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2234 focal epilepsy ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:23933819|PMID:23933820|PMID:25164438|PMID:25741868|PMID:26467025|PMID:27640074|PMID:28492532|PMID:29124671 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:10686 D RGD:9068941 20231230 RGD associated with hyperhomocysteinemia PMID:30885791|REF_RGD_ID:401940141 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:2737 D RGD:9068941 20231230 RGD associated with hyperhomocysteinemia PMID:30885791|REF_RGD_ID:401940141 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:224 transient cerebral ischemia treatment ISO RGD:2737 D RGD:9068941 20240111 RGD PMID:12932824|REF_RGD_ID:401950480 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:732269 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: APHASIA, ACQUIRED, WITH EPILEPSY | ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:20384727|PMID:20890276|PMID:21376300|PMID:21559497|PMID:21681106|PMID:23033978|PMID:23408766|PMID:23933818|PMID:23933819|PMID:23933820|PMID:24125812|PMID:24372385|PMID:24828792|PMID:24848745|PMID:25164438|PMID:25326635|PMID:25356970|PMID:25498981|PMID:25640679|PMID:25724810|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26220384|PMID:26283219|PMID:26350204|PMID:26467025|PMID:26601054|PMID:26648591|PMID:26781712|PMID:26806548|PMID:27288002|PMID:27640074|PMID:27781031|PMID:27839871|PMID:28102150|PMID:28109652|PMID:28182669|PMID:28242877|PMID:28333917|PMID:28492532|PMID:28936771|PMID:29056244|PMID:29124671|PMID:29358611|PMID:29655203|PMID:29961510|PMID:30544257|PMID:31098720|PMID:31429998|PMID:31780880|PMID:32238909|PMID:32712949|PMID:32722525|PMID:33258288|PMID:33391346|PMID:33528079|PMID:7574460|PMID:9536098 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:2560 morphine dependence ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878694 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3312 bipolar disorder ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3312 bipolar disorder ISO RGD:732269 D RGD:9068941 20200609 RGD DNA:repeat:promoter:(GT)18-33 (human) PMID:12809987|REF_RGD_ID:1358644 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:732269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:16199547|PMID:18414213|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26467025|PMID:26601054|PMID:27288002|PMID:27839871|PMID:28102150|PMID:28109652|PMID:28242877|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:7574460 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:3891 placental insufficiency ISO RGD:2737 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:19144756|REF_RGD_ID:2326049 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:5419 schizophrenia ISO RGD:732269 D RGD:9068941 20200609 RGD DNA:polymorphism:G/T:promoter PMID:17011703|REF_RGD_ID:1642198 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:5419 schizophrenia ISO RGD:732269 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex layers 3-4 PMID:18534564|REF_RGD_ID:6480428 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:5812 MHC class II deficiency ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:630 genetic disease ISO RGD:732269 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:20890276|PMID:21559497|PMID:23033978|PMID:23408766|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25164438|PMID:25356970|PMID:25498981|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26220384|PMID:26283219|PMID:26350204|PMID:26467025|PMID:26601054|PMID:26781712|PMID:27288002|PMID:27640074|PMID:27781031|PMID:27839871|PMID:28109652|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:31098720|PMID:31429998|PMID:31780880|PMID:33420383|PMID:34186027|PMID:8815211|PMID:9481670|PMID:9481671|PMID:9536098 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:8725 vascular dementia ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:732269 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:16199547|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25741868|PMID:28102150|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:7574460 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9001733 Tinnitus ISO RGD:2737 D RGD:9068941 20231230 RGD mRNA, protein:increased expression:Cochlear Nucleus PMID:24092407|REF_RGD_ID:401940125 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9001793 Generalized Epilepsy ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002211 Hyperalgesia ISO RGD:2737 D RGD:9068941 20200609 RGD PMID:29758384|REF_RGD_ID:13792698 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002231 Fetal Growth Retardation ISO RGD:2737 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortical neuron (rat) PMID:20398734|REF_RGD_ID:4107070 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002510 Focal Epilepsy with Speech Disorder and with or without Mental Retardation ISO RGD:732269 D RGD:7240710 20180130 OMIM 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9002510 Focal Epilepsy with Speech Disorder and with or without Mental Retardation ISO RGD:732269 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Dystonia, intellectual disability and language impairment | ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT PMID:16199547|PMID:17576681|PMID:18414213|PMID:20890276|PMID:23933818|PMID:23933819|PMID:23933820|PMID:25726841|PMID:25741868|PMID:25904555|PMID:26467025|PMID:26601054|PMID:27288002|PMID:27839871|PMID:28102150|PMID:28109652|PMID:28242877|PMID:28492532|PMID:29124671|PMID:29358611|PMID:30544257|PMID:7574460|PMID:9536098 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2737 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:19761817|REF_RGD_ID:2325954 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9003736 Central Nervous System Viral Diseases ISO RGD:2737 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:19660546|REF_RGD_ID:2325963 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9004009 Reperfusion Injury ISO RGD:2737 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus (rat) PMID:20350575|REF_RGD_ID:2325867 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732269 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:30544257|PMID:31780880 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9004484 Sepsis ISO RGD:2737 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:19837828|REF_RGD_ID:2325949 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9005466 Language Development Disorders ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23933820 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9005968 Neuralgia ISO RGD:2737 D RGD:9068941 20231230 RGD PMID:24659417|REF_RGD_ID:401940123 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:732269 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:28109652|PMID:28492532|PMID:30544257 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9008086 Developmental Disabilities ISO RGD:732269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9008443 Colorectal Neoplasms ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17922030 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:92 speech disorder ISO RGD:732269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23933820 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9256 colorectal cancer ISO RGD:732269 D RGD:9068941 20211231 RGD DNA:hypermethylation:promoter (human) PMID:17922030|REF_RGD_ID:150539451 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:732269 D RGD:9068941 20211231 RGD right-sided colorectal cancer;DNA:mutations:multiple (human) PMID:33106877|REF_RGD_ID:150539450 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9261 nasopharynx carcinoma ISO RGD:732269 D RGD:9068941 20211231 RGD protein:decreased expression:nasopharynx (human) PMID:26681223|REF_RGD_ID:150539449 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2737 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9828 neonatal abstinence syndrome ISO RGD:732269 D RGD:9068941 20231221 RGD mRNA:decreased expression:placenta PMID:34352367|REF_RGD_ID:401938659 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9976 heroin dependence susceptibility ISO RGD:732269 D RGD:9068941 20231216 RGD DNA:repeats,SNPs,haplotype:introns:(GT)26, rs3219790,rs1102972,rs1650420,rs3104703 (human) PMID:23940648|REF_RGD_ID:401938628 8927383 Grin2a glutamate ionotropic receptor NMDA type subunit 2A gene DOID:9976 heroin dependence susceptibility ISO RGD:732269 D RGD:9068941 20231216 RGD DNA:repeats: :(GT)26 (human) PMID:25366762|REF_RGD_ID:401938629 8927401 Ipo8 importin 8 gene DOID:630 genetic disease ISO RGD:1343350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927401 Ipo8 importin 8 gene DOID:9004471 VISS syndrome ISO RGD:1343350 D RGD:7240710 20211027 OMIM 8927401 Ipo8 importin 8 gene DOID:9004471 VISS syndrome ISO RGD:1343350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IPO8-related aortopathy | ClinVar Annotator: match by term: IPO8-related condition | ClinVar Annotator: match by term: VISS syndrome PMID:16199547|PMID:25741868|PMID:28492532|PMID:33875846|PMID:34010604|PMID:34010605 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736601 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28235671|PMID:28379373|PMID:28492532|PMID:29068549|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30904718|PMID:32515017|PMID:34081427 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0080420 developmental and epileptic encephalopathy 62 ISO RGD:736601 D RGD:7240710 20190315 OMIM 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0080420 developmental and epileptic encephalopathy 62 ISO RGD:736601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 62 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62 | ClinVar Annotator: match by term: SCN3A-related neurodevelopmental disorder PMID:16199547|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30542205|PMID:30904718|PMID:32515017|PMID:34081427|PMID:9536098 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0080918 polymicrogyria ISO RGD:736601 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:25741868|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30904718|PMID:32515017|PMID:34081427 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:736601 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome PMID:25741868|PMID:32515017 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:21893419|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27153334|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0081421 familial focal epilepsy with variable foci 1 ISO RGD:736601 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 PMID:25741868|PMID:28492532 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0081424 familial focal epilepsy with variable foci 4 ISO RGD:736601 D RGD:7240710 20190315 OMIM 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0081424 familial focal epilepsy with variable foci 4 ISO RGD:736601 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 4 | ClinVar Annotator: match by term: SCN3A- Related Disorder | ClinVar Annotator: match by term: SCN3A-related condition PMID:17576681|PMID:18242854|PMID:20420834|PMID:24157691|PMID:24157694|PMID:25741868|PMID:26467025|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30904718|PMID:32515017|PMID:34081427|PMID:9536098 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0111321 idiopathic generalized epilepsy 7 ISO RGD:736601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 PMID:25741868 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736601 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28235671|PMID:28379373|PMID:28492532|PMID:29068549|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30904718|PMID:32515017|PMID:34081427 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:1059 intellectual disability ISO RGD:736601 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:28492532 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:12382 complex partial epilepsy ISO RGD:736601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18242854 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:12712 nephronophthisis ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:736601 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:1826 epilepsy ISO RGD:736601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:630 genetic disease ISO RGD:736601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10051516|PMID:22787448|PMID:24157691|PMID:25741868|PMID:28492532|PMID:29466837|PMID:32515017 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3635 D RGD:9068941 20200609 RGD PMID:16109750|PMID:16718433|REF_RGD_ID:2317320|REF_RGD_ID:2317321 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736601 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8927430 Scn3a sodium voltage-gated channel alpha subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:736601 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:28235671|PMID:28492532|PMID:29466837|PMID:29740860|PMID:30146301|PMID:30904718|PMID:32515017|PMID:34081427 8927468 Sncb synuclein beta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8927468 Sncb synuclein beta gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733869 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8927468 Sncb synuclein beta gene DOID:10652 Alzheimer's disease ISO RGD:733869 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:11578596|REF_RGD_ID:6480194 8927468 Sncb synuclein beta gene DOID:11870 Pick's disease ISO RGD:733869 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:12410393|REF_RGD_ID:6480200 8927468 Sncb synuclein beta gene DOID:12217 Lewy body dementia ISO RGD:733869 D RGD:7240710 20180130 OMIM 8927468 Sncb synuclein beta gene DOID:12217 Lewy body dementia ISO RGD:733869 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:15365127|PMID:21045828|PMID:25741868|PMID:26332674|PMID:31589614|PMID:33760043 8927468 Sncb synuclein beta gene DOID:13141 uveitis ISO RGD:70992 D RGD:9068941 20200609 RGD PMID:12496452|REF_RGD_ID:730073 8927468 Sncb synuclein beta gene DOID:14330 Parkinson's disease ISO RGD:733869 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:10557341|REF_RGD_ID:6480095 8927468 Sncb synuclein beta gene DOID:14330 Parkinson's disease onset ISO RGD:733869 D RGD:9068941 20200609 RGD DNA:SNP: :rs1352303(human) PMID:17556099|REF_RGD_ID:6478793 8927468 Sncb synuclein beta gene DOID:14748 Sotos syndrome ISO RGD:733869 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8927468 Sncb synuclein beta gene DOID:3321 GM2 gangliosidosis ISO RGD:736763 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:12657883|REF_RGD_ID:6480199 8927468 Sncb synuclein beta gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:733869 D RGD:9068941 20200609 RGD PMID:10934140|REF_RGD_ID:6480098 8927468 Sncb synuclein beta gene DOID:630 genetic disease ISO RGD:733869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927468 Sncb synuclein beta gene DOID:8761 acute megakaryocytic leukemia ISO RGD:733869 D RGD:9068941 20200609 RGD PMID:21264917|REF_RGD_ID:6478703 8927468 Sncb synuclein beta gene DOID:9000998 Brain Injuries ISO RGD:736763 D RGD:9068941 20200609 RGD PMID:14637093|REF_RGD_ID:6480195 8927468 Sncb synuclein beta gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:70992 D RGD:9068941 20200609 RGD PMID:12496452|REF_RGD_ID:730073 8927468 Sncb synuclein beta gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8927468 Sncb synuclein beta gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:733869 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8927481 Ryr2 ryanodine receptor 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Right ventricular cardiomyopathy PMID:11159936|PMID:12093772|PMID:12459180|PMID:16769042|PMID:18326664|PMID:19709828|PMID:19926015|PMID:21315846|PMID:22677073|PMID:22787013|PMID:23757202|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24447446|PMID:24558114|PMID:24981977|PMID:25351510|PMID:25467552|PMID:25637381|PMID:25741868|PMID:25925909|PMID:26112015|PMID:26189708|PMID:27646203|PMID:27650965|PMID:28087566|PMID:28150229|PMID:28404607|PMID:28492532|PMID:28771489|PMID:29477366|PMID:29874177|PMID:31112425|PMID:31337358|PMID:31931689|PMID:32233023 8927481 Ryr2 ryanodine receptor 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy susceptibility ISO RGD:1317019 D RGD:9068941 20200609 RGD PMID:11159936|REF_RGD_ID:1599243 8927481 Ryr2 ryanodine receptor 2 gene DOID:0050451 Brugada syndrome ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8927481 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19926015|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23651034|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25440180|PMID:25467552|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26633542|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27538377|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27854218|PMID:27930701|PMID:28074886|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28771489|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29874177|PMID:29915097|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31333075|PMID:31337358|PMID:31535183|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32899693|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy with or without skeletal myopathy PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19926015|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25440180|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27532257|PMID:27538377|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28771489|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29874177|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:34088380|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20132818|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32165824|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33658040|PMID:33664309|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35819174|PMID:35932045|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20132818|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33658040|PMID:33664309|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35819174|PMID:35932045|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16339485|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30020974|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33179747|PMID:33500567|PMID:33658040|PMID:33664309|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34213952|PMID:34546463|PMID:35353122|PMID:35446340|PMID:35668055|PMID:35819174|PMID:35932045|PMID:36070930|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16339485|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30020974|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33179747|PMID:33500567|PMID:33552729|PMID:33658040|PMID:33664309|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34127479|PMID:34213952|PMID:34546463|PMID:34930847|PMID:35353122|PMID:35446340|PMID:35668055|PMID:35819174|PMID:35932045|PMID:36070930|PMID:36291626|PMID:36970376|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16339485|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16843546|PMID:17062961|PMID:17558603|PMID:17576681|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30020974|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33179747|PMID:33500567|PMID:33552729|PMID:33658040|PMID:33664309|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34127479|PMID:34213952|PMID:34546463|PMID:34930847|PMID:35353122|PMID:35446340|PMID:35668055|PMID:35819174|PMID:35932045|PMID:36070930|PMID:36203036|PMID:36291626|PMID:36864708|PMID:36970376|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317019 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:15197150|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16339485|PMID:16436635|PMID:16769042|PMID:16818210|PMID:16825580|PMID:16843546|PMID:17062961|PMID:17556193|PMID:17558603|PMID:17576681|PMID:18092949|PMID:1817325|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21659649|PMID:21742998|PMID:21768539|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27066507|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27435932|PMID:27452199|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:285698|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28789916|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29884292|PMID:29899727|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30020974|PMID:30029678|PMID:30086531|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30696458|PMID:30763784|PMID:30830208|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31847883|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32091590|PMID:32152366|PMID:32155531|PMID:32165824|PMID:32220801|PMID:32233023|PMID:32268277|PMID:32508047|PMID:32659924|PMID:32660257|PMID:32681117|PMID:32746448|PMID:32899693|PMID:33179747|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33658040|PMID:33664309|PMID:33789662|PMID:33825858|PMID:33829027|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34127479|PMID:34213952|PMID:34389451|PMID:34546463|PMID:34691145|PMID:34930847|PMID:35087879|PMID:35352813|PMID:35353122|PMID:35446340|PMID:35668055|PMID:35819174|PMID:35932045|PMID:36070930|PMID:36082968|PMID:36203036|PMID:36269083|PMID:36291626|PMID:36310724|PMID:36621286|PMID:36864708|PMID:36970376|PMID:37477868|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151189 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060319 cardiac arrest ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060480 left ventricular noncompaction ISO RGD:1317019 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:18752142|PMID:19926015|PMID:23022705|PMID:24025405|PMID:24033266|PMID:24631775|PMID:25741868|PMID:27538377|PMID:28404607|PMID:28492532|PMID:31638414 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:20961976|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23973953|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24147812|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25835811|PMID:25844899|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28771489|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30197081|PMID:30403697|PMID:30453078|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33536282|PMID:33686871|PMID:33825858|PMID:34088380|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23973953|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24147812|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27854218|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30086531|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30453078|PMID:30471092|PMID:30615648|PMID:30696458|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31057083|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33536282|PMID:33686871|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:35353122|PMID:35470680|PMID:35819174|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholamine-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32165824|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35819174|PMID:35932045|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35819174|PMID:35932045|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21270786|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:25974703|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35819174|PMID:35932045|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33789662|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34546463|PMID:34691145|PMID:34730774|PMID:35353122|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30020974|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32746448|PMID:32899693|PMID:33179747|PMID:33500567|PMID:33789662|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34213952|PMID:34546463|PMID:34691145|PMID:34730774|PMID:35353122|PMID:35446340|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:36070930|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:11389482|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16825580|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:1817325|PMID:18326664|PMID:18752142|PMID:18836296|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20676041|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21645850|PMID:21659649|PMID:21742998|PMID:21768539|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22515980|PMID:22584458|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23022705|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23479668|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23978697|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24394973|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24728420|PMID:24743769|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25363768|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25445213|PMID:25467552|PMID:25554238|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25835811|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26018045|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26402605|PMID:26498160|PMID:26569459|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26899768|PMID:27054166|PMID:27066507|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:285698|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29766881|PMID:29874177|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30020974|PMID:30086531|PMID:30197081|PMID:30355031|PMID:30403697|PMID:30471092|PMID:30615648|PMID:30696458|PMID:30763784|PMID:30830208|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31539150|PMID:31568572|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32091590|PMID:32152366|PMID:32155531|PMID:32165824|PMID:32233023|PMID:32268277|PMID:32508047|PMID:32659924|PMID:32746448|PMID:32899693|PMID:33179747|PMID:33500567|PMID:33552729|PMID:33652119|PMID:33789662|PMID:33825858|PMID:33919104|PMID:34088380|PMID:34127479|PMID:34213952 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317019 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:34546463|PMID:34691145|PMID:34730774|PMID:34930847|PMID:35026164|PMID:35087879|PMID:35353122|PMID:35446340|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:36070930|PMID:36082968|PMID:36203036|PMID:36291626|PMID:36621286|PMID:36864708|PMID:36970376|PMID:37347419|PMID:37477868|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:7240710 20180130 OMIM 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23098067|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26633542|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29247119|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29874177|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32899693|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29396286|PMID:29453246|PMID:29511324|PMID:29544605|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33686871|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22221940|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:31875585|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33686871|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:19926015|PMID:20106799|PMID:20157052|PMID:20301466|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21964171|PMID:22221940|PMID:22222782|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23810894|PMID:23820649|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25092222|PMID:25163546|PMID:25194972|PMID:25351510|PMID:25467552|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26114861|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26899768|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27727376|PMID:27756708|PMID:27930701|PMID:28100344|PMID:28125075|PMID:28150229|PMID:28166811|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28807990|PMID:28988457|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30403697|PMID:30835254|PMID:30847666|PMID:31112425|PMID:31337358|PMID:31402444|PMID:31847883|PMID:31875585|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33686871|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15197150|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15890976|PMID:16188589|PMID:16239587|PMID:16272262|PMID:16436635|PMID:16769042|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18752142|PMID:18849218|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19398665|PMID:19597050|PMID:19709828|PMID:1992601|PMID:19926015|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20851825|PMID:21315846|PMID:21454795|PMID:21616285|PMID:21659649|PMID:21768539|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22396703|PMID:22515980|PMID:22677073|PMID:22787013|PMID:22956155|PMID:23022705|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23671135|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25440180|PMID:25467552|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25713214|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25844899|PMID:25925909|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26498160|PMID:26656175|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27251404|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27756708|PMID:27838126|PMID:27854218|PMID:27930701|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28166811|PMID:28191890|PMID:28237968|PMID:28255936|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28620067|PMID:28771489|PMID:28789916|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29544605|PMID:29568272|PMID:29874177|PMID:29951146|PMID:30086531|PMID:30355031|PMID:30403697|PMID:30615648|PMID:30696458|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31057083|PMID:31112425|PMID:31231889|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32746448|PMID:32899693|PMID:33500567|PMID:33536282|PMID:33686871|PMID:33919104|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15175054|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17556193|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18483626|PMID:18752142|PMID:18836296|PMID:18849218|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19330009|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:1992601|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21126784|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:22956155|PMID:23022705|PMID:23098067|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23934111|PMID:23973953|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24113177|PMID:24136861|PMID:24147812|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24793461|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26256814|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26498160|PMID:26569459|PMID:26573135|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27251404|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28191890|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28789916|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29132927|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29668588|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30020974|PMID:30029678|PMID:30086531|PMID:30197081|PMID:30296944|PMID:30355031|PMID:30403697|PMID:30453078|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30696458|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31057083|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31624606|PMID:31737537|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32516855|PMID:32746448|PMID:32899693|PMID:33179747|PMID:33325730|PMID:33500567|PMID:33536282|PMID:33658040|PMID:33664309|PMID:33686871|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34213952|PMID:34546463|PMID:34691145|PMID:34730774|PMID:35353122|PMID:35446340|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:36070930|PMID:8589694|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32516855|PMID:32746448|PMID:32899693|PMID:33179747|PMID:33325730|PMID:33500567|PMID:33536282|PMID:33658040|PMID:33664309|PMID:33686871|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34127479|PMID:34213952|PMID:34546463|PMID:34691145|PMID:34730774|PMID:34930847|PMID:35026164|PMID:35353122|PMID:35446340|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:36070930|PMID:36291626|PMID:36970376|PMID:8589694|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15175054|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17556193|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18483626|PMID:18752142|PMID:18836296|PMID:18849218|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19330009|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:1992601|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21126784|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:22956155|PMID:23022705|PMID:23098067|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23934111|PMID:23973953|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24113177|PMID:24136861|PMID:24147812|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24793461|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25363768|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26256814|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26402605|PMID:26498160|PMID:26569459|PMID:26573135|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27251404|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28191890|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28789916|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29132927|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29668588|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30020974|PMID:30029678|PMID:30086531|PMID:30197081|PMID:30296944|PMID:30355031|PMID:30403697|PMID:30453078|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30696458|PMID:30763784|PMID:30830208|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31057083|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31624606|PMID:31737537|PMID:31785789|PMID:31847883 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32516855|PMID:32746448|PMID:32899693|PMID:33179747|PMID:33325730|PMID:33500567|PMID:33536282|PMID:33552729|PMID:33658040|PMID:33664309|PMID:33686871|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34127479|PMID:34213952|PMID:34546463|PMID:34691145|PMID:34730774|PMID:34930847|PMID:34949103|PMID:35026164|PMID:35353122|PMID:35446340|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:36070930|PMID:36203036|PMID:36291626|PMID:36864708|PMID:36970376|PMID:8589694|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15175054|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17556193|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:18326664|PMID:18483626|PMID:18752142|PMID:18836296|PMID:18849218|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19330009|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:1992601|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21126784|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21652165|PMID:21659649|PMID:21768539|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22396703|PMID:22515980|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:22956155|PMID:23022705|PMID:23098067|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23934111|PMID:23973953|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24113177|PMID:24136861|PMID:24147812|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24793461|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25363768|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26256814|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26402605|PMID:26498160|PMID:26569459|PMID:26573135|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26820365|PMID:26899768|PMID:27054166|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27251404|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28191890|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28789916|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29132927|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29668588|PMID:29766881|PMID:29874177|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30020974|PMID:30029678|PMID:30086531|PMID:30197081|PMID:30296944|PMID:30355031|PMID:30403697|PMID:30453078|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30696458|PMID:30763784|PMID:30830208|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31057083|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924|PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31624606|PMID:31737537|PMID:31785789 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:32516855|PMID:32746448|PMID:32899693|PMID:33179747|PMID:33325730|PMID:33500567|PMID:33536282|PMID:33552729|PMID:33658040|PMID:33664309|PMID:33686871|PMID:33789662|PMID:33825858|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34127479|PMID:34213952|PMID:34546463|PMID:34691145|PMID:34730774|PMID:34930847|PMID:34949103|PMID:35026164|PMID:35353122|PMID:35446340|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:36070930|PMID:36203036|PMID:36291626|PMID:36864708|PMID:36970376|PMID:8589694|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:11078270|PMID:11157710|PMID:11159936|PMID:11208676|PMID:12093772|PMID:12106942|PMID:12169647|PMID:12459180|PMID:12837242|PMID:12919952|PMID:14571276|PMID:15131021|PMID:15175054|PMID:15197150|PMID:15364606|PMID:15364613|PMID:15466642|PMID:15544015|PMID:15721128|PMID:15749201|PMID:15887426|PMID:15890976|PMID:16084945|PMID:16188589|PMID:16199547|PMID:16239587|PMID:16272262|PMID:16339485|PMID:16391617|PMID:16436635|PMID:16517285|PMID:16769042|PMID:16818210|PMID:16825580|PMID:16843546|PMID:16873551|PMID:17062961|PMID:17556193|PMID:17558603|PMID:17576681|PMID:17875969|PMID:18092949|PMID:1817325|PMID:18326664|PMID:18483626|PMID:18752142|PMID:18836296|PMID:18849218|PMID:19102802|PMID:19216760|PMID:19226252|PMID:19330009|PMID:19398665|PMID:19541610|PMID:19597050|PMID:19709828|PMID:19781797|PMID:19913485|PMID:1992601|PMID:19926015|PMID:20080988|PMID:20106799|PMID:20132818|PMID:20157052|PMID:20301466|PMID:20538074|PMID:20646679|PMID:20676041|PMID:20851825|PMID:20961976|PMID:21048710|PMID:21126784|PMID:21292648|PMID:21315846|PMID:21454795|PMID:21478052|PMID:21616285|PMID:21652165|PMID:21659649|PMID:21742998|PMID:21768539|PMID:21954897|PMID:21964171|PMID:22068070|PMID:22174035|PMID:22221940|PMID:22222782|PMID:22373669|PMID:22374134|PMID:22383456|PMID:22396703|PMID:22515980|PMID:22584458|PMID:22584762|PMID:22677073|PMID:22787013|PMID:22828895|PMID:22956155|PMID:23022705|PMID:23098067|PMID:23152493|PMID:23204524|PMID:23286974|PMID:23396983|PMID:23549275|PMID:23595086|PMID:23651034|PMID:23671135|PMID:23757202|PMID:23810894|PMID:23820649|PMID:23861362|PMID:23871484|PMID:23934111|PMID:23973953|PMID:24025405|PMID:24033266|PMID:24055113|PMID:24113177|PMID:24136861|PMID:24147812|PMID:24447446|PMID:24503780|PMID:24558114|PMID:24631775|PMID:24793461|PMID:24978818|PMID:24981977|PMID:25041964|PMID:25087098|PMID:25092222|PMID:25163546|PMID:25193700|PMID:25194972|PMID:25351510|PMID:25363768|PMID:25370123|PMID:25372681|PMID:25440180|PMID:25467552|PMID:25500949|PMID:25554238|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25713214|PMID:25730765|PMID:25741868|PMID:25814417|PMID:25820315|PMID:25844899|PMID:25901278|PMID:25925909|PMID:26112015|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26256814|PMID:26272908|PMID:26332594|PMID:26350513|PMID:26383259|PMID:26402605|PMID:26498160|PMID:26569459|PMID:26573135|PMID:26656175|PMID:26666913|PMID:26688388|PMID:26704558|PMID:26743238|PMID:26771585|PMID:26820365|PMID:26899768|PMID:27054166|PMID:27066507|PMID:27114410|PMID:27153395|PMID:27194543|PMID:27229459|PMID:27231019|PMID:27251404|PMID:27332903|PMID:27353043|PMID:27435932|PMID:27452199|PMID:27482086|PMID:27532257|PMID:27538377|PMID:27646203|PMID:27650965|PMID:27727376|PMID:27733687|PMID:27756708|PMID:27810088|PMID:27838126|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28100344|PMID:28125075|PMID:28135719|PMID:28150229|PMID:28158428|PMID:28191890|PMID:28202948|PMID:28237968|PMID:28255936|PMID:28341588|PMID:28359509|PMID:28404607|PMID:28416588|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28567303|PMID:285698|PMID:28600387|PMID:28606196|PMID:28620067|PMID:28686619|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28789916|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28961276|PMID:28988457|PMID:29032884|PMID:29037160|PMID:29132927|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29368431|PMID:29396286|PMID:29396561|PMID:29434162|PMID:29447731|PMID:29453246|PMID:29477366|PMID:29511324|PMID:29543670|PMID:29544603|PMID:29544605|PMID:29555771|PMID:29568272|PMID:29668588|PMID:29750433|PMID:29766881|PMID:29874177|PMID:29884292|PMID:29899727|PMID:29915097|PMID:29915098|PMID:29925740|PMID:29951146|PMID:30020974|PMID:30029678|PMID:30086531|PMID:30197081|PMID:30296944|PMID:30355031|PMID:30403697|PMID:30453078|PMID:30471092|PMID:30615648|PMID:30670673|PMID:30696458|PMID:30763784|PMID:30830208|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31019283|PMID:31057083|PMID:31078384|PMID:31112425|PMID:31114860|PMID:31155924 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317019 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:31195250|PMID:31231889|PMID:31333075|PMID:31337358|PMID:31402444|PMID:31513939|PMID:31534214|PMID:31535183|PMID:31539150|PMID:31568572|PMID:31624606|PMID:31638414|PMID:31737537|PMID:31785789|PMID:31847883|PMID:31875585|PMID:31913406|PMID:31931689|PMID:31970460|PMID:32009526|PMID:32048431|PMID:32091590|PMID:32152366|PMID:32155531|PMID:32165824|PMID:32220801|PMID:32233023|PMID:32268277|PMID:32508047|PMID:32516855|PMID:32659924|PMID:32660257|PMID:32681117|PMID:32746448|PMID:32899693|PMID:33179747|PMID:33325730|PMID:33500567|PMID:33536282|PMID:33552729|PMID:33652119|PMID:33658040|PMID:33664309|PMID:33686871|PMID:33789662|PMID:33825858|PMID:33829027|PMID:33897349|PMID:33919104|PMID:34088380|PMID:34127479|PMID:34213952|PMID:34389451|PMID:34546463|PMID:34691145|PMID:34730774|PMID:34930847|PMID:34949103|PMID:35026164|PMID:35087879|PMID:35352813|PMID:35353122|PMID:35446340|PMID:35470680|PMID:35668055|PMID:35819174|PMID:35932045|PMID:36070930|PMID:36082968|PMID:36203036|PMID:36269083|PMID:36291626|PMID:36310724|PMID:36621286|PMID:36864708|PMID:36970376|PMID:37347419|PMID:37477868|PMID:8589694|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 8927481 Ryr2 ryanodine receptor 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:19216760|PMID:19926015|PMID:20132818|PMID:23861362|PMID:24033266|PMID:25041964|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29032884|PMID:30847666|PMID:32152366 8927481 Ryr2 ryanodine receptor 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12459180|PMID:19216760|PMID:19926015|PMID:20132818|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25041964|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27756708|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29350269|PMID:29477366|PMID:30847666|PMID:32152366|PMID:35026164 8927481 Ryr2 ryanodine receptor 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:12459180|PMID:19216760|PMID:19926015|PMID:20132818|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25041964|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27756708|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29350269|PMID:29477366|PMID:30847666|PMID:32152366|PMID:33829027|PMID:35026164 8927481 Ryr2 ryanodine receptor 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1317019 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:25637381|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666 8927481 Ryr2 ryanodine receptor 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 8927481 Ryr2 ryanodine receptor 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:12459180|PMID:19216760|PMID:19926015|PMID:20132818|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29350269|PMID:29477366 8927481 Ryr2 ryanodine receptor 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317019 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:12459180|PMID:19216760|PMID:19926015|PMID:20132818|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29032884|PMID:29350269|PMID:29477366|PMID:35026164 8927481 Ryr2 ryanodine receptor 2 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 8927481 Ryr2 ryanodine receptor 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 8927481 Ryr2 ryanodine receptor 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1317019 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:26132555|PMID:28492532|PMID:36082968 8927481 Ryr2 ryanodine receptor 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:25741868|PMID:28492532 8927481 Ryr2 ryanodine receptor 2 gene DOID:10591 pre-eclampsia ISO RGD:1317019 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8927481 Ryr2 ryanodine receptor 2 gene DOID:114 heart disease ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart disease PMID:17576681|PMID:25741868|PMID:28404607|PMID:28492532|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:11714 gestational diabetes ISO RGD:1317019 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8927481 Ryr2 ryanodine receptor 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317019 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12459180|PMID:18752142|PMID:19926015|PMID:22787013|PMID:23022705|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24631775|PMID:25041964|PMID:25351510|PMID:25650408|PMID:25741868|PMID:25925909|PMID:26656175|PMID:27054166|PMID:27538377|PMID:27646203|PMID:27930701|PMID:28359509|PMID:28404607|PMID:28492532|PMID:29350269|PMID:29453246|PMID:29477366|PMID:30615648|PMID:31155924|PMID:31513939|PMID:31638414|PMID:32508047|PMID:37477868 8927481 Ryr2 ryanodine receptor 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:19926015|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25650408|PMID:25741868|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29453246|PMID:31333075|PMID:31568572|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29453246|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32152366 8927481 Ryr2 ryanodine receptor 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317019 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25650408|PMID:25741868|PMID:25925909|PMID:27930701|PMID:28341588|PMID:28404607|PMID:28492532|PMID:29453246|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32152366|PMID:32268277|PMID:32746448|PMID:33829027|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1317019 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:16188589|PMID:23861362|PMID:25637381|PMID:25741868|PMID:28404607|PMID:28492532|PMID:29555771|PMID:32009526|PMID:32152366|PMID:32165824|PMID:33825858 8927481 Ryr2 ryanodine receptor 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8927481 Ryr2 ryanodine receptor 2 gene DOID:1682 congenital heart disease ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:28492532 8927481 Ryr2 ryanodine receptor 2 gene DOID:1790 malignant mesothelioma ISO RGD:1317019 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 8927481 Ryr2 ryanodine receptor 2 gene DOID:1909 melanoma ISO RGD:1317019 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:25741868 8927481 Ryr2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532 8927481 Ryr2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:19398665|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26256814|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:31112425 8927481 Ryr2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:19398665|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26256814|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29543670|PMID:31112425|PMID:32152366 8927481 Ryr2 ryanodine receptor 2 gene DOID:2843 long QT syndrome ISO RGD:1317019 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11159936|PMID:15364606|PMID:15364613|PMID:16239587|PMID:16272262|PMID:19398665|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:22828895|PMID:23595086|PMID:23871484|PMID:24025405|PMID:24033266|PMID:25351510|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26256814|PMID:26704558|PMID:26743238|PMID:27452199|PMID:27930701|PMID:28237968|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29032884|PMID:29037160|PMID:29434162|PMID:29543670|PMID:31112425|PMID:32152366|PMID:36082968 8927481 Ryr2 ryanodine receptor 2 gene DOID:3393 coronary artery disease ISO RGD:1317019 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Premature coronary artery atherosclerosis PMID:25741868 8927481 Ryr2 ryanodine receptor 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317019 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:24033266|PMID:24558114|PMID:25041964|PMID:25351510|PMID:25467552|PMID:25637381|PMID:25741868|PMID:25925909|PMID:26383259|PMID:28150229|PMID:28404607|PMID:28492532|PMID:29453246|PMID:29874177|PMID:30020974|PMID:30615648|PMID:30847666|PMID:31112425|PMID:31114860|PMID:31337358|PMID:32048431|PMID:32233023|PMID:35819174 8927481 Ryr2 ryanodine receptor 2 gene DOID:6000 congestive heart failure ISO RGD:1317019 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28404607|PMID:28492532 8927481 Ryr2 ryanodine receptor 2 gene DOID:630 genetic disease ISO RGD:1317019 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12093772|PMID:16272262|PMID:17576681|PMID:18752142|PMID:19398665|PMID:19926015|PMID:21126784|PMID:21292648|PMID:21616285|PMID:23022705|PMID:23595086|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24136861|PMID:24631775|PMID:25041964|PMID:25554238|PMID:25741868|PMID:26114861|PMID:27538377|PMID:28202948|PMID:28404607|PMID:28492532|PMID:28606196|PMID:29453246|PMID:31402444|PMID:31568572|PMID:31638414|PMID:34213952|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:6432 pulmonary hypertension ISO RGD:620314 D RGD:9068941 20230525 RGD protein:increased expression:pulmonary artery PMID:22962011|REF_RGD_ID:329813078 8927481 Ryr2 ryanodine receptor 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317019 D RGD:7240710 20210526 OMIM 8927481 Ryr2 ryanodine receptor 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317019 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: RYR2-related condition | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:12093772|PMID:12459180|PMID:17576681|PMID:17984046|PMID:19216760|PMID:19926015|PMID:20132818|PMID:23396983|PMID:23671135|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:25775566|PMID:25925909|PMID:26189708|PMID:26688388|PMID:27153395|PMID:27229459|PMID:27532257|PMID:27538377|PMID:27646203|PMID:28074886|PMID:28237968|PMID:28404607|PMID:28416588|PMID:28492532|PMID:28600387|PMID:28771489|PMID:28798025|PMID:29032884|PMID:29368431|PMID:29396561|PMID:29453246|PMID:29477366|PMID:29544605|PMID:30615648|PMID:30763784|PMID:30835254|PMID:30847666|PMID:30975432|PMID:31112425|PMID:31195250|PMID:31513939|PMID:32048431|PMID:32152366|PMID:32233023|PMID:32508047|PMID:33536282|PMID:33789662|PMID:33919104|PMID:35087879|PMID:35668055|PMID:35932045|PMID:36621286|PMID:9536098 8927481 Ryr2 ryanodine receptor 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:12106942|PMID:12459180|PMID:15544015|PMID:17062961|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:23549275|PMID:23871484|PMID:24025405|PMID:24033266|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25741868|PMID:26153920|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29477366 8927481 Ryr2 ryanodine receptor 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8927481 Ryr2 ryanodine receptor 2 gene DOID:9000727 Syncope ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope 8927481 Ryr2 ryanodine receptor 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1317019 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:19926015|PMID:21964171|PMID:23204524|PMID:23396983|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26899768|PMID:27153395|PMID:27231019|PMID:27538377|PMID:27930701|PMID:28404607|PMID:28492532|PMID:28771489|PMID:31539150|PMID:31737537|PMID:32152366|PMID:32508047|PMID:32746448|PMID:33500567|PMID:35819174|PMID:35932045 8927481 Ryr2 ryanodine receptor 2 gene DOID:9002554 Tachycardia ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15749201 8927481 Ryr2 ryanodine receptor 2 gene DOID:9002554 Tachycardia ISO RGD:1317019 D RGD:9068941 20200609 RGD PMID:8589694|REF_RGD_ID:1578810 8927481 Ryr2 ryanodine receptor 2 gene DOID:9002914 Familial Sudden Death ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31913406 8927481 Ryr2 ryanodine receptor 2 gene DOID:9003163 Heart Block ISO RGD:1317019 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:19926015|PMID:21964171|PMID:23204524|PMID:23396983|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24055113|PMID:25163546|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26899768|PMID:27153395|PMID:27231019|PMID:27538377|PMID:27930701|PMID:28404607|PMID:28492532|PMID:28771489|PMID:31539150|PMID:31737537|PMID:32152366|PMID:32508047|PMID:32746448|PMID:33500567|PMID:35819174|PMID:35932045 8927481 Ryr2 ryanodine receptor 2 gene DOID:9003631 Diastolic Dysfunction ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diastolic dysfunction PMID:25741868|PMID:28492532 8927481 Ryr2 ryanodine receptor 2 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:1317019 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:25741868|PMID:28492532|PMID:34949103 8927481 Ryr2 ryanodine receptor 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:26656175|PMID:27054166|PMID:28404607|PMID:28492532|PMID:30403697|PMID:30471092|PMID:34088380 8927481 Ryr2 ryanodine receptor 2 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1317019 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 8927481 Ryr2 ryanodine receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620314 D RGD:9068941 20200609 RGD PMID:17027851|REF_RGD_ID:1599247 8927481 Ryr2 ryanodine receptor 2 gene DOID:9006030 Infant Death ISO RGD:1317019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:19926015|PMID:20157052|PMID:22374134|PMID:22515980|PMID:22677073|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25370123|PMID:25741868|PMID:27435932|PMID:27538377|PMID:28125075|PMID:28404607|PMID:28492532|PMID:28567303|PMID:29396286|PMID:30403697|PMID:30835254|PMID:32152366 8927481 Ryr2 ryanodine receptor 2 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685413 8927481 Ryr2 ryanodine receptor 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1317019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8927481 Ryr2 ryanodine receptor 2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1317019 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:11159936|PMID:12106942|PMID:12459180|PMID:15131021|PMID:15364606|PMID:15364613|PMID:15544015|PMID:16188589|PMID:16239587|PMID:16391617|PMID:16517285|PMID:16769042|PMID:16818210|PMID:17062961|PMID:18326664|PMID:19398665|PMID:19541610|PMID:19709828|PMID:19913485|PMID:19926015|PMID:20106799|PMID:20961976|PMID:21315846|PMID:21616285|PMID:21659649|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22677073|PMID:22787013|PMID:22828895|PMID:23286974|PMID:23549275|PMID:23595086|PMID:23671135|PMID:23820649|PMID:23861362|PMID:23871484|PMID:24025405|PMID:24033266|PMID:24136861|PMID:24503780|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25637381|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:26189708|PMID:26332594|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28237968|PMID:28404607|PMID:28422759|PMID:28449774|PMID:28492532|PMID:28600387|PMID:28798025|PMID:29434162|PMID:29453246|PMID:29477366|PMID:29543670|PMID:29555771|PMID:29925740|PMID:30197081|PMID:30847666|PMID:31112425|PMID:31737537|PMID:32009526|PMID:32152366|PMID:32165824|PMID:33825858 8927481 Ryr2 ryanodine receptor 2 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8927481 Ryr2 ryanodine receptor 2 gene DOID:9007820 Sudden Death ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden death | ClinVar Annotator: match by term: Sudden unexplained death PMID:12459180|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29350269|PMID:29477366|PMID:31513939 8927481 Ryr2 ryanodine receptor 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1317019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:12459180|PMID:22787013|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25741868|PMID:26656175|PMID:27054166|PMID:27646203|PMID:27930701|PMID:28404607|PMID:28492532|PMID:29350269|PMID:29477366|PMID:30615648 8927481 Ryr2 ryanodine receptor 2 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1317019 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:24033266|PMID:25741868|PMID:28404607|PMID:28492532 8927481 Ryr2 ryanodine receptor 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8927590 Sox14 SRY-box transcription factor 14 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1320109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8927590 Sox14 SRY-box transcription factor 14 gene DOID:630 genetic disease ISO RGD:1320109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927603 Ifit2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:0080600 COVID-19 ISO RGD:1317209 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8927603 Ifit2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:14497 Wolman disease ISO RGD:1317209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 8927603 Ifit2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:630 genetic disease ISO RGD:1317209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927603 Ifit2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1317209 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 8927603 Ifit2 interferon induced protein with tetratricopeptide repeats 2 gene DOID:9001488 Human Influenza ISO RGD:1317209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8927610 Spcs3 signal peptidase complex subunit 3 gene DOID:630 genetic disease ISO RGD:1353202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927610 Spcs3 signal peptidase complex subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8927624 Samd1 sterile alpha motif domain containing 1 gene DOID:630 genetic disease ISO RGD:1343473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927634 Shc2 SHC adaptor protein 2 gene DOID:630 genetic disease ISO RGD:1350366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927652 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8927652 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:0080600 COVID-19 ISO RGD:737186 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8927652 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737186 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 PMID:9070847 8927652 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:11476 osteoporosis ISO RGD:737186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8927652 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:14749 methylmalonic acidemia ISO RGD:737186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 8927652 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:737186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927652 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8927652 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:9070847 8927652 Gpd2 glycerol-3-phosphate dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737186 D RGD:7240710 20230505 OMIM 8927681 Slc39a8 solute carrier family 39 member 8 gene DOID:0060480 left ventricular noncompaction ISO RGD:1317895 D RGD:9068941 20220825 MouseDO OMIM:604169 8927681 Slc39a8 solute carrier family 39 member 8 gene DOID:0070266 congenital disorder of glycosylation type IIn ISO RGD:1317894 D RGD:7240710 20180130 OMIM 8927681 Slc39a8 solute carrier family 39 member 8 gene DOID:0070266 congenital disorder of glycosylation type IIn ISO RGD:1317894 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: SLC39A8-CDG PMID:23806086|PMID:24088041|PMID:25687216|PMID:25741868|PMID:26637978|PMID:26637979|PMID:2809732|PMID:28492532|PMID:28749473|PMID:29453449|PMID:32313153|PMID:32753748|PMID:34768831 8927681 Slc39a8 solute carrier family 39 member 8 gene DOID:0110892 inflammatory bowel disease 1 ISO RGD:1317894 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:27492617|PMID:28492532|PMID:32897876|PMID:33139556 8927681 Slc39a8 solute carrier family 39 member 8 gene DOID:3633 beta-mannosidosis ISO RGD:1317894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 8927681 Slc39a8 solute carrier family 39 member 8 gene DOID:630 genetic disease ISO RGD:1317894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8927681 Slc39a8 solute carrier family 39 member 8 gene DOID:8778 Crohn's disease ISO RGD:1317894 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:27492617|PMID:28492532|PMID:32897876|PMID:33139556 8927681 Slc39a8 solute carrier family 39 member 8 gene DOID:9000304 Manganese Poisoning ISO RGD:1317894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29429640 8927681 Slc39a8 solute carrier family 39 member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8927694 Plcxd2 phosphatidylinositol specific phospholipase C X domain containing 2 gene DOID:630 genetic disease ISO RGD:1345610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927708 Gdpgp1 GDP-D-glucose phosphorylase 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8927708 Gdpgp1 GDP-D-glucose phosphorylase 1 gene DOID:2717 Bloom syndrome ISO RGD:1605191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8927708 Gdpgp1 GDP-D-glucose phosphorylase 1 gene DOID:630 genetic disease ISO RGD:1605191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927708 Gdpgp1 GDP-D-glucose phosphorylase 1 gene DOID:9256 colorectal cancer ISO RGD:1605191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8927714 Lnp1 leukemia NUP98 fusion partner 1 gene DOID:630 genetic disease ISO RGD:2291790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927714 Lnp1 leukemia NUP98 fusion partner 1 gene DOID:9009221 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ISO RGD:2291790 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 8927726 Ago4 argonaute RISC component 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8927726 Ago4 argonaute RISC component 4 gene DOID:630 genetic disease ISO RGD:1312105 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:0060224 atrial fibrillation ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:731603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:26676105 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:1682 congenital heart disease ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9671575 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:6000 congestive heart failure ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:630 genetic disease ISO RGD:731603 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:6419 tetralogy of Fallot ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25093829 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:769 neuroblastoma ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9003936 Cardiomegaly ISO RGD:621207 D RGD:9068941 20200609 RGD mRNA:altered expression:cardiac ventricle PMID:12359233|REF_RGD_ID:727442 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9003936 Cardiomegaly ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9003936 Cardiomegaly ISO RGD:731604 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart right ventricle PMID:12359233|REF_RGD_ID:727442 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:621207 D RGD:9068941 20200609 RGD protein:increased expression:heart right ventricle PMID:12955401|REF_RGD_ID:5132894 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9006205 Animal Disease Models ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8927748 Hand2 heart and neural crest derivatives expressed 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:731603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8927755 Rsrc1 arginine and serine rich coiled-coil 1 gene DOID:0081231 autosomal recessive intellectual developmental disorder 70 ISO RGD:1602488 D RGD:7240710 20190605 OMIM 8927755 Rsrc1 arginine and serine rich coiled-coil 1 gene DOID:0081231 autosomal recessive intellectual developmental disorder 70 ISO RGD:1602488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 70 PMID:25741868|PMID:28640246|PMID:29522154|PMID:32227164 8927755 Rsrc1 arginine and serine rich coiled-coil 1 gene DOID:5419 schizophrenia ISO RGD:1602488 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8927755 Rsrc1 arginine and serine rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1602488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927771 Gtf2a1 general transcription factor IIA subunit 1 gene DOID:630 genetic disease ISO RGD:733620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927793 Slc50a1 solute carrier family 50 member 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8927793 Slc50a1 solute carrier family 50 member 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8927793 Slc50a1 solute carrier family 50 member 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8927793 Slc50a1 solute carrier family 50 member 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8927793 Slc50a1 solute carrier family 50 member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8927793 Slc50a1 solute carrier family 50 member 1 gene DOID:5812 MHC class II deficiency ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8927793 Slc50a1 solute carrier family 50 member 1 gene DOID:630 genetic disease ISO RGD:1607017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927793 Slc50a1 solute carrier family 50 member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8927810 CUNH9orf43 chromosome unknown C9orf43 homolog gene DOID:630 genetic disease ISO RGD:1345519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927828 Ptgir prostaglandin I2 receptor gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1322052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 8927828 Ptgir prostaglandin I2 receptor gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1322052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 8927828 Ptgir prostaglandin I2 receptor gene DOID:0110644 long QT syndrome 1 ISO RGD:1322052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:28492532 8927828 Ptgir prostaglandin I2 receptor gene DOID:114 heart disease ISO RGD:1322052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16154102 8927828 Ptgir prostaglandin I2 receptor gene DOID:630 genetic disease ISO RGD:1322052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927838 Ica1 islet cell autoantigen 1 gene DOID:630 genetic disease ISO RGD:733652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927838 Ica1 islet cell autoantigen 1 gene DOID:9351 diabetes mellitus ISO RGD:621465 D RGD:9068941 20200609 RGD PMID:7918678|REF_RGD_ID:633043 8927838 Ica1 islet cell autoantigen 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733653 D RGD:9068941 20200609 RGD PMID:11751995|REF_RGD_ID:2311487 8927838 Ica1 islet cell autoantigen 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733653 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:thymus gland PMID:14679103|REF_RGD_ID:2311486 8927838 Ica1 islet cell autoantigen 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:733652 D RGD:9068941 20200609 RGD PMID:8647206|REF_RGD_ID:2311488 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1313967 D RGD:9068941 20220825 MouseDO 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:10907 microcephaly ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24728327|PMID:25741868|PMID:28492532 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1313966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12032595 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1313966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:1612 breast cancer ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:28492532 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:206 hereditary multiple exostoses ISO RGD:1313966 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas PMID:10480354|PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11170095|PMID:11342960|PMID:11391482|PMID:11432960|PMID:11668521|PMID:12032595|PMID:12239711|PMID:12490068|PMID:15221792|PMID:15253765|PMID:15586175|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:17301954|PMID:17576681|PMID:17589361|PMID:1816274|PMID:18165274|PMID:18330718|PMID:18373409|PMID:18976157|PMID:19344451|PMID:19810120|PMID:19819120|PMID:19839753|PMID:20025490|PMID:20418910|PMID:21039224|PMID:21499719|PMID:21520333|PMID:21703028|PMID:22258776|PMID:22382802|PMID:22820392|PMID:22913777|PMID:23262345|PMID:23439489|PMID:23629877|PMID:24120389|PMID:24496678|PMID:24532482|PMID:24728327|PMID:25230886|PMID:25468659|PMID:25520924|PMID:25525159|PMID:25541963|PMID:25640679|PMID:25727835|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26622573|PMID:26690531|PMID:26839764|PMID:26961984|PMID:28492532|PMID:28600779|PMID:28604967|PMID:28690282|PMID:29126381|PMID:29529714|PMID:29620724|PMID:29989442|PMID:30334991|PMID:30806661|PMID:31096510|PMID:33632255|PMID:33726816|PMID:7550340|PMID:8981950|PMID:9150727|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9536098|PMID:9620772 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:2394 ovarian cancer ISO RGD:1313966 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:3371 chondrosarcoma ISO RGD:1313966 D RGD:7240710 20180130 OMIM 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:3371 chondrosarcoma ISO RGD:1313966 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic PMID:10679937|PMID:11170095|PMID:11391482|PMID:15586175|PMID:16088908|PMID:17301954|PMID:18165274|PMID:19810120|PMID:24728327|PMID:25468659|PMID:25541963|PMID:25741868|PMID:28492532|PMID:29126381|PMID:8981950|PMID:9521425 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:4624 Ollier disease ISO RGD:1313966 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11170095|PMID:11391482|PMID:11432960|PMID:15253765|PMID:15586175|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:17301954|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:23439489|PMID:24532482|PMID:24728327|PMID:25230886|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26690531|PMID:26961984|PMID:28492532|PMID:28690282|PMID:29126381|PMID:29529714|PMID:30334991|PMID:30806661|PMID:7550340|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:4998 trichorhinophalangeal syndrome type II ISO RGD:1313966 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Langer-Giedion syndrome PMID:17301954|PMID:24728327|PMID:25741868|PMID:28492532 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1313966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10639137|PMID:10679296|PMID:11391482|PMID:11432960|PMID:16283885|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:25230886|PMID:25741868|PMID:26239617|PMID:26961984|PMID:28492532|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:9002644 Premature Aging ISO RGD:1587375 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (rat) PMID:22339633|REF_RGD_ID:13208511 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:9003050 Multiple Exostoses Type I ISO RGD:1313966 D RGD:7240710 20180130 OMIM 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:9003050 Multiple Exostoses Type I ISO RGD:1313966 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11170095|PMID:11391482|PMID:11432960|PMID:15253765|PMID:15586175|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:17301954|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:23439489|PMID:24532482|PMID:24728327|PMID:25230886|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26690531|PMID:26961984|PMID:28492532|PMID:29126381|PMID:29529714|PMID:30334991|PMID:30806661|PMID:7550340|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 8927866 Ext1 exostosin glycosyltransferase 1 gene DOID:9005285 Osteochondromatosis ISO RGD:1313966 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS PMID:10639137|PMID:10679296|PMID:10679937|PMID:10713884|PMID:11170095|PMID:11391482|PMID:11432960|PMID:15253765|PMID:15586175|PMID:16088908|PMID:16199547|PMID:16283885|PMID:17041877|PMID:17301954|PMID:18165274|PMID:18330718|PMID:19810120|PMID:20418910|PMID:22258776|PMID:23262345|PMID:23439489|PMID:24532482|PMID:24728327|PMID:25230886|PMID:25468659|PMID:25741868|PMID:26239617|PMID:26515642|PMID:26690531|PMID:26961984|PMID:28492532|PMID:28690282|PMID:29126381|PMID:29529714|PMID:30334991|PMID:30806661|PMID:7550340|PMID:8981950|PMID:9326317|PMID:9463333|PMID:9521425|PMID:9620772 8927906 LOC102005653 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 ISO RGD:732301 D RGD:7240710 20201111 OMIM 8927906 LOC102005653 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 ISO RGD:732301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 PMID:28247525 8927906 LOC102005653 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:0080600 COVID-19 ISO RGD:732301 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8927906 LOC102005653 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:2717 Bloom syndrome ISO RGD:732301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8927906 LOC102005653 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:5419 schizophrenia ISO RGD:732301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8927906 LOC102005653 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:630 genetic disease ISO RGD:732301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927906 LOC102005653 cytochrome c oxidase subunit 5A, mitochondrial gene DOID:9256 colorectal cancer ISO RGD:732301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8927919 Eps8l1 EPS8 signaling adaptor L1 gene DOID:630 genetic disease ISO RGD:1322450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927970 Prelid3a PRELI domain containing 3A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1315398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8927970 Prelid3a PRELI domain containing 3A gene DOID:1059 intellectual disability ISO RGD:1315398 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8927970 Prelid3a PRELI domain containing 3A gene DOID:543 dystonia ISO RGD:1315398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8927970 Prelid3a PRELI domain containing 3A gene DOID:630 genetic disease ISO RGD:1315398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927989 LOC102011504 keratin-associated protein 8-1 gene DOID:630 genetic disease ISO RGD:1354331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8927994 Wbp1l WW domain binding protein 1 like gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1314041 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 8927994 Wbp1l WW domain binding protein 1 like gene DOID:630 genetic disease ISO RGD:1314041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928005 Knop1 lysine rich nucleolar protein 1 gene DOID:630 genetic disease ISO RGD:1606640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928020 CUNH10orf90 chromosome unknown C10orf90 homolog gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1313898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8928020 CUNH10orf90 chromosome unknown C10orf90 homolog gene DOID:630 genetic disease ISO RGD:1313898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928045 Znf804a zinc finger protein 804A gene DOID:303 substance-related disorder ISO RGD:1349576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8928045 Znf804a zinc finger protein 804A gene DOID:4450 renal cell carcinoma ISO RGD:1349576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8928045 Znf804a zinc finger protein 804A gene DOID:5419 schizophrenia ISO RGD:1349576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8928045 Znf804a zinc finger protein 804A gene DOID:630 genetic disease ISO RGD:1349576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928062 Dusp5 dual specificity phosphatase 5 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1345576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 8928062 Dusp5 dual specificity phosphatase 5 gene DOID:10763 hypertension ISO RGD:1345576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25397684 8928062 Dusp5 dual specificity phosphatase 5 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1622924 D RGD:9068941 20230330 RGD ApoE knockout mice PMID:30529164|REF_RGD_ID:243048424 8928062 Dusp5 dual specificity phosphatase 5 gene DOID:630 genetic disease ISO RGD:1345576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928062 Dusp5 dual specificity phosphatase 5 gene DOID:9000998 Brain Injuries ISO RGD:620854 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12503083|REF_RGD_ID:2317873 8928062 Dusp5 dual specificity phosphatase 5 gene DOID:9002231 Fetal Growth Retardation ISO RGD:620854 D RGD:9068941 20200609 RGD PMID:16940436|REF_RGD_ID:2317872 8928062 Dusp5 dual specificity phosphatase 5 gene DOID:9003139 Cardiac Fibrosis ISO RGD:620854 D RGD:9068941 20230225 RGD mRNA,protein:decreased expression:cardiac muscle tissue (rat) PMID:27318893|REF_RGD_ID:156430318 8928071 Mllt6 MLLT6, PHD finger containing gene DOID:630 genetic disease ISO RGD:1315450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928099 Epcip exosomal polycystin 1 interacting protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1343736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8928099 Epcip exosomal polycystin 1 interacting protein gene DOID:0060898 Parkinson's disease 20 ISO RGD:1343736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8928099 Epcip exosomal polycystin 1 interacting protein gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1343736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8928099 Epcip exosomal polycystin 1 interacting protein gene DOID:630 genetic disease ISO RGD:1343736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928099 Epcip exosomal polycystin 1 interacting protein gene DOID:9005698 ZTTK Syndrome ISO RGD:1343736 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8928136 Bbln bublin coiled coil protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8928136 Bbln bublin coiled coil protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8928136 Bbln bublin coiled coil protein gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1342591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8928136 Bbln bublin coiled coil protein gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1342591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8928136 Bbln bublin coiled coil protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8928141 Rnpep arginyl aminopeptidase gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:733030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8928141 Rnpep arginyl aminopeptidase gene DOID:10763 hypertension ISO RGD:621137 D RGD:9068941 20200609 RGD PMID:3001599|REF_RGD_ID:2325950 8928141 Rnpep arginyl aminopeptidase gene DOID:10763 hypertension ISO RGD:621137 D RGD:9068941 20200609 RGD protein:increased expression:adrenal gland, neurohypophysis PMID:9660082|REF_RGD_ID:2325942 8928141 Rnpep arginyl aminopeptidase gene DOID:1540 parathyroid carcinoma ISO RGD:733030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8928141 Rnpep arginyl aminopeptidase gene DOID:630 genetic disease ISO RGD:733030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928141 Rnpep arginyl aminopeptidase gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:733030 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8928141 Rnpep arginyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621137 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16619500|REF_RGD_ID:1582109 8928141 Rnpep arginyl aminopeptidase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16619500 8928141 Rnpep arginyl aminopeptidase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8928157 Arl5b ADP ribosylation factor like GTPase 5B gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1313675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8928157 Arl5b ADP ribosylation factor like GTPase 5B gene DOID:0080600 COVID-19 ISO RGD:1313675 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8928157 Arl5b ADP ribosylation factor like GTPase 5B gene DOID:1909 melanoma ISO RGD:1313675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8928157 Arl5b ADP ribosylation factor like GTPase 5B gene DOID:630 genetic disease ISO RGD:1313675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:0060500 drug allergy ISO RGD:736923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21449675 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:0060903 thrombosis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:12384182|REF_RGD_ID:1601457 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:0080690 RASopathy ISO RGD:736923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:9700944|REF_RGD_ID:1601470 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:0111047 platelet-type bleeding disorder 14 ISO RGD:736923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 14 PMID:25741868|PMID:28492532 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:0112251 Ghosal hematodiaphyseal syndrome ISO RGD:736923 D RGD:7240710 20180130 OMIM 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:0112251 Ghosal hematodiaphyseal syndrome ISO RGD:736923 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome | ClinVar Annotator: match by term: TBXAS1-related condition PMID:17203301|PMID:18264100|PMID:22735388|PMID:25741868|PMID:27156553|PMID:28492532|PMID:29068549|PMID:33185009|PMID:33244729|PMID:33595912|PMID:35395429|PMID:8702713 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:10763 hypertension ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:16192456|REF_RGD_ID:1601439 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:10763 hypertension ISO RGD:3826 D RGD:9068941 20200609 RGD associated with hyperinsulinism PMID:9370383|REF_RGD_ID:1601472 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:10976 membranous glomerulonephritis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:8982653|REF_RGD_ID:1601473 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:11111 hydronephrosis ISO RGD:3826 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9261862|REF_RGD_ID:634088 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:2213 hemorrhagic disease ISO RGD:736923 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:2349 arteriosclerosis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:11331452|REF_RGD_ID:1601459 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:2921 glomerulonephritis ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:10560941|REF_RGD_ID:1601461 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:3454 brain infarction ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:14650360|REF_RGD_ID:1601455 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:3526 cerebral infarction susceptibility ISO RGD:736923 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:19403042|REF_RGD_ID:11059536 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:630 genetic disease ISO RGD:736923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:3826 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver, Kupffer cell: PMID:9262373|REF_RGD_ID:11059607 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736923 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:15000260|REF_RGD_ID:1601451 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3826 D RGD:9068941 20200609 RGD associated with Cholestasis, Extrahepatic PMID:8680115|REF_RGD_ID:1601475 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:9005930 Endotoxemia ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:15647606|REF_RGD_ID:1601450 8928171 Tbxas1 thromboxane A synthase 1 gene DOID:9477 pulmonary embolism ISO RGD:3826 D RGD:9068941 20200609 RGD PMID:12639842|REF_RGD_ID:1601456 8928197 Rock1 Rho associated coiled-coil containing protein kinase 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733751 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32417439 8928197 Rock1 Rho associated coiled-coil containing protein kinase 1 gene DOID:1059 intellectual disability ISO RGD:733751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8928197 Rock1 Rho associated coiled-coil containing protein kinase 1 gene DOID:3905 lung carcinoma ISO RGD:733751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:20140017 8928197 Rock1 Rho associated coiled-coil containing protein kinase 1 gene DOID:630 genetic disease ISO RGD:733751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928197 Rock1 Rho associated coiled-coil containing protein kinase 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:733751 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:11872041|REF_RGD_ID:2298875 8928197 Rock1 Rho associated coiled-coil containing protein kinase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620424 D RGD:9068941 20200609 RGD PMID:17316608|REF_RGD_ID:1642807 8928197 Rock1 Rho associated coiled-coil containing protein kinase 1 gene DOID:9007023 Prenatal Injuries ISO RGD:733751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18956198 8928197 Rock1 Rho associated coiled-coil containing protein kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:733751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:20140017 8928253 Taf10 TATA-box binding protein associated factor 10 gene DOID:0050700 cardiomyopathy ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 8928253 Taf10 TATA-box binding protein associated factor 10 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17576681|PMID:24033266|PMID:25163546|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29915097|PMID:9536098 8928253 Taf10 TATA-box binding protein associated factor 10 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098 8928253 Taf10 TATA-box binding protein associated factor 10 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1314218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098 8928253 Taf10 TATA-box binding protein associated factor 10 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1314218 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:29915097|PMID:33874732 8928253 Taf10 TATA-box binding protein associated factor 10 gene DOID:12930 dilated cardiomyopathy ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 8928253 Taf10 TATA-box binding protein associated factor 10 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8928253 Taf10 TATA-box binding protein associated factor 10 gene DOID:2843 long QT syndrome ISO RGD:1314218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8928253 Taf10 TATA-box binding protein associated factor 10 gene DOID:630 genetic disease ISO RGD:1314218 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532|PMID:34935411 8928262 Tmem236 transmembrane protein 236 gene DOID:630 genetic disease ISO RGD:1349731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928271 Ddah2 DDAH family member 2, ADMA-independent gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8928271 Ddah2 DDAH family member 2, ADMA-independent gene DOID:10591 pre-eclampsia ISO RGD:1346413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22285683 8928271 Ddah2 DDAH family member 2, ADMA-independent gene DOID:3393 coronary artery disease ISO RGD:1346413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17267746 8928271 Ddah2 DDAH family member 2, ADMA-independent gene DOID:630 genetic disease ISO RGD:1346413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928291 Robo1 roundabout guidance receptor 1 gene DOID:0060224 atrial fibrillation ISO RGD:735617 D RGD:9068941 20230330 RGD associated with heart valve disease;protein:increased expression:right atrial myocardium PMID:33236535|REF_RGD_ID:242905189 8928291 Robo1 roundabout guidance receptor 1 gene DOID:0080205 CAKUT ISO RGD:735617 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30692597|PMID:35227688 8928291 Robo1 roundabout guidance receptor 1 gene DOID:0080745 polymyositis ISO RGD:735617 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:muscle PMID:32213157|REF_RGD_ID:243048425 8928291 Robo1 roundabout guidance receptor 1 gene DOID:0111797 autosomal recessive congenital nystagmus ISO RGD:735617 D RGD:7240710 20230505 OMIM 8928291 Robo1 roundabout guidance receptor 1 gene DOID:0111797 autosomal recessive congenital nystagmus ISO RGD:735617 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive PMID:25741868|PMID:28492532|PMID:35348658 8928291 Robo1 roundabout guidance receptor 1 gene DOID:10223 dermatomyositis ISO RGD:735617 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:muscle PMID:32213157|REF_RGD_ID:243048425 8928291 Robo1 roundabout guidance receptor 1 gene DOID:10488 imperforate anus ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imperforate anus PMID:25741868 8928291 Robo1 roundabout guidance receptor 1 gene DOID:1059 intellectual disability ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28135719|PMID:28600779 8928291 Robo1 roundabout guidance receptor 1 gene DOID:10591 pre-eclampsia ISO RGD:735617 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:placenta PMID:22262697|REF_RGD_ID:243048428 8928291 Robo1 roundabout guidance receptor 1 gene DOID:12849 autistic disorder ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 8928291 Robo1 roundabout guidance receptor 1 gene DOID:1324 lung cancer ISO RGD:62234 D RGD:9068941 20220825 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 8928291 Robo1 roundabout guidance receptor 1 gene DOID:14766 renal agenesis ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral renal agenesis PMID:25741868|PMID:29194579 8928291 Robo1 roundabout guidance receptor 1 gene DOID:1657 ventricular septal defect ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:25691540|REF_RGD_ID:243048427 8928291 Robo1 roundabout guidance receptor 1 gene DOID:1682 congenital heart disease ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:26489027|PMID:27854360|PMID:28286008|PMID:28492532|PMID:30712880 8928291 Robo1 roundabout guidance receptor 1 gene DOID:224 transient cerebral ischemia ISO RGD:61941 D RGD:9068941 20230330 RGD protein:increased expression:brain, astrocyte PMID:27686659|REF_RGD_ID:243048429 8928291 Robo1 roundabout guidance receptor 1 gene DOID:224 transient cerebral ischemia ISO RGD:61941 D RGD:9068941 20230330 RGD protein:increased expression:hippocampus PMID:26764532|REF_RGD_ID:11573340 8928291 Robo1 roundabout guidance receptor 1 gene DOID:224 transient cerebral ischemia disease_progression ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:23473743|REF_RGD_ID:243048431 8928291 Robo1 roundabout guidance receptor 1 gene DOID:2975 cystic kidney disease ISO RGD:62234 D RGD:9068941 20220825 MouseDO 8928291 Robo1 roundabout guidance receptor 1 gene DOID:299 adenocarcinoma ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 8928291 Robo1 roundabout guidance receptor 1 gene DOID:3721 plasmacytoma ameliorates ISO RGD:735617 D RGD:9068941 20230330 RGD PMID:34268498|REF_RGD_ID:243048419 8928291 Robo1 roundabout guidance receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:61941 D RGD:9068941 20200609 RGD mRNA:altered expression:lung PMID:15264215|REF_RGD_ID:2314868 8928291 Robo1 roundabout guidance receptor 1 gene DOID:630 genetic disease ISO RGD:735617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8928291 Robo1 roundabout guidance receptor 1 gene DOID:6419 tetralogy of Fallot ISO RGD:735617 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868|PMID:28492532|PMID:28592524|PMID:29194579|PMID:35227688 8928291 Robo1 roundabout guidance receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8928291 Robo1 roundabout guidance receptor 1 gene DOID:8947 diabetic retinopathy ISO RGD:61941 D RGD:9068941 20230330 RGD mRNA,protein:increased expression:retina PMID:28973045|REF_RGD_ID:243048421 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:61941 D RGD:9068941 20230401 RGD mRNA,protein:increased expression:spinal cord: PMID:27893610|REF_RGD_ID:243048440 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:61941 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:61941 D RGD:9068941 20230401 RGD protein:increased expression:brain, immune cell PMID:26550694|REF_RGD_ID:243048437 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9001814 NEUROOCULORENAL SYNDROME ISO RGD:735617 D RGD:7240710 20230621 OMIM 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9001814 NEUROOCULORENAL SYNDROME ISO RGD:735617 D RGD:8554872 20230627 ClinVar ClinVar Annotator: match by term: Neurooculorenal syndrome PMID:25741868|PMID:29194579|PMID:30692597|PMID:35227688 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9003086 Congenital Nystagmus 8 ISO RGD:735617 D RGD:7240710 20230505 OMIM 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:33236535|REF_RGD_ID:242905189 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9003676 Brain Hypoxia-Ischemia exacerbates ISO RGD:61941 D RGD:9068941 20230330 RGD PMID:31356825|REF_RGD_ID:242905191 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28402530|PMID:30530901|PMID:31448886 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9005178 Combined Pituitary Hormone Deficiency 8 ISO RGD:735617 D RGD:7240710 20230505 OMIM 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9005178 Combined Pituitary Hormone Deficiency 8 ISO RGD:735617 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined or isolated, 8 PMID:25741868|PMID:28402530|PMID:31448886 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:61941 D RGD:9068941 20230401 RGD mRNA:increased expression:carotid artery PMID:26841069|REF_RGD_ID:243048443 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9007661 Dwarfism ISO RGD:735617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25410734 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9008104 Cancer Pain exacerbates ISO RGD:61941 D RGD:9068941 20230401 RGD PMID:26738857|REF_RGD_ID:243048441 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9538 multiple myeloma ameliorates ISO RGD:735617 D RGD:9068941 20230330 RGD PMID:34268498|REF_RGD_ID:243048419 8928291 Robo1 roundabout guidance receptor 1 gene DOID:9649 congenital nystagmus ISO RGD:735617 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital nystagmus PMID:25741868|PMID:28492532|PMID:35348658 8928336 Pcnp PEST proteolytic signal containing nuclear protein gene DOID:630 genetic disease ISO RGD:1603975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928345 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8928345 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8928345 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8928345 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8928345 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8928345 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8928345 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0111934 immunodeficiency 38 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8928345 Ttll10 tubulin tyrosine ligase like 10 gene DOID:0111935 immunodeficiency 16 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8928345 Ttll10 tubulin tyrosine ligase like 10 gene DOID:630 genetic disease ISO RGD:1602419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928345 Ttll10 tubulin tyrosine ligase like 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8928345 Ttll10 tubulin tyrosine ligase like 10 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1602419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8928345 Ttll10 tubulin tyrosine ligase like 10 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1602419 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8928362 Epb42 erythrocyte membrane protein band 4.2 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1313259 D RGD:9068941 20220825 MouseDO OMIM:182900 8928362 Epb42 erythrocyte membrane protein band 4.2 gene DOID:0110920 hereditary spherocytosis type 5 ISO RGD:1313258 D RGD:7240710 20180130 OMIM 8928362 Epb42 erythrocyte membrane protein band 4.2 gene DOID:0110920 hereditary spherocytosis type 5 ISO RGD:1313258 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 5 PMID:10406914|PMID:12176912|PMID:1558976|PMID:15692067|PMID:19508687|PMID:2386772|PMID:25741868|PMID:28492532|PMID:29402830|PMID:32726712|PMID:7772513|PMID:7803799|PMID:8319790|PMID:8528207|PMID:8547071|PMID:8635206 8928362 Epb42 erythrocyte membrane protein band 4.2 gene DOID:12971 hereditary spherocytosis ISO RGD:1313258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spherocytosis, Recessive 8928362 Epb42 erythrocyte membrane protein band 4.2 gene DOID:2717 Bloom syndrome ISO RGD:1313258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8928362 Epb42 erythrocyte membrane protein band 4.2 gene DOID:630 genetic disease ISO RGD:1313258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8928362 Epb42 erythrocyte membrane protein band 4.2 gene DOID:9256 colorectal cancer ISO RGD:1313258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8928379 Rasgef1b RasGEF domain family member 1B gene DOID:0080600 COVID-19 ISO RGD:1348873 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8928379 Rasgef1b RasGEF domain family member 1B gene DOID:630 genetic disease ISO RGD:1348873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928379 Rasgef1b RasGEF domain family member 1B gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1306201 D RGD:9068941 20240201 RGD mRNA:increased expression:liver (rat) PMID:31805951|REF_RGD_ID:401960876 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:1314683 D RGD:9068941 20240201 RGD mRNA:increased expression:liver (human) PMID:35312185|PMID:36034446|REF_RGD_ID:401960878|REF_RGD_ID:401960879 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:1314684 D RGD:9068941 20240201 RGD PMID:31397492|REF_RGD_ID:401960873 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:1612 breast cancer ameliorates ISO RGD:1314683 D RGD:9068941 20240201 RGD protein:decreased expression:breast (human) PMID:34606580|REF_RGD_ID:401960874 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:4450 renal cell carcinoma ISO RGD:1306201 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:10854235|REF_RGD_ID:1626565 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:630 genetic disease ISO RGD:1314683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:9000951 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis ISO RGD:1314683 D RGD:7240710 20180130 OMIM 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:9000951 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis ISO RGD:1314683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | ClinVar Annotator: match by term: Retinal arterial macroaneurysm with supravascular pulmonic stenosis PMID:12441727|PMID:21835307|PMID:25741868 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1306201 D RGD:9068941 20240229 RGD PMID:25691930|REF_RGD_ID:401976485 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12592389 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:1314683 D RGD:9068941 20240201 RGD protein:increased expression:plasma (human) PMID:25543030|REF_RGD_ID:401960875 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:9007692 Insulin Resistance ISO RGD:1314683 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16873698|REF_RGD_ID:1626516 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:9007692 Insulin Resistance ISO RGD:1314684 D RGD:9068941 20240201 RGD associated with metabolic dysfunction-associated steatotic liver disease PMID:31397492|REF_RGD_ID:401960873 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:9007730 Burns ISO RGD:1306201 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11742840|REF_RGD_ID:1626551 8928438 Igfbp7 insulin like growth factor binding protein 7 gene DOID:9008939 Breast Neoplasms ISO RGD:1314683 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12592389 8928494 Tmcc2 transmembrane and coiled-coil domain family 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8928494 Tmcc2 transmembrane and coiled-coil domain family 2 gene DOID:12849 autistic disorder ISO RGD:1346306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8928494 Tmcc2 transmembrane and coiled-coil domain family 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1346306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8928494 Tmcc2 transmembrane and coiled-coil domain family 2 gene DOID:630 genetic disease ISO RGD:1346306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928494 Tmcc2 transmembrane and coiled-coil domain family 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346306 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8928494 Tmcc2 transmembrane and coiled-coil domain family 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8928511 Baiap3 BAI1 associated protein 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8928511 Baiap3 BAI1 associated protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318052 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8928511 Baiap3 BAI1 associated protein 3 gene DOID:1826 epilepsy ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8928511 Baiap3 BAI1 associated protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8928511 Baiap3 BAI1 associated protein 3 gene DOID:2843 long QT syndrome ISO RGD:1318052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8928511 Baiap3 BAI1 associated protein 3 gene DOID:630 genetic disease ISO RGD:1318052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928554 Cir1 corepressor interacting with RBPJ, CIR1 gene DOID:0080600 COVID-19 ISO RGD:1602899 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8928554 Cir1 corepressor interacting with RBPJ, CIR1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1602899 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8928554 Cir1 corepressor interacting with RBPJ, CIR1 gene DOID:630 genetic disease ISO RGD:1602899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928568 Smc5 structural maintenance of chromosomes 5 gene DOID:630 genetic disease ISO RGD:1316718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928568 Smc5 structural maintenance of chromosomes 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8928568 Smc5 structural maintenance of chromosomes 5 gene DOID:9005150 Mosaic Variegated Aneuploidy Syndrome 6 ISO RGD:1316718 D RGD:7240710 20230125 OMIM 8928568 Smc5 structural maintenance of chromosomes 5 gene DOID:9005150 Mosaic Variegated Aneuploidy Syndrome 6 ISO RGD:1316718 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atelis syndrome 2 PMID:36333305 8928596 Znf623 zinc finger protein 623 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1345531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8928596 Znf623 zinc finger protein 623 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1345531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8928596 Znf623 zinc finger protein 623 gene DOID:4621 holoprosencephaly ISO RGD:1345531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8928596 Znf623 zinc finger protein 623 gene DOID:630 genetic disease ISO RGD:1345531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928607 Nub1 negative regulator of ubiquitin like proteins 1 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1602112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8928607 Nub1 negative regulator of ubiquitin like proteins 1 gene DOID:2843 long QT syndrome ISO RGD:1602112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8928607 Nub1 negative regulator of ubiquitin like proteins 1 gene DOID:630 genetic disease ISO RGD:1602112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928634 Mterf4 mitochondrial transcription termination factor 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1602073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8928634 Mterf4 mitochondrial transcription termination factor 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1602073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8928634 Mterf4 mitochondrial transcription termination factor 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1602073 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8928634 Mterf4 mitochondrial transcription termination factor 4 gene DOID:1059 intellectual disability ISO RGD:1602073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8928634 Mterf4 mitochondrial transcription termination factor 4 gene DOID:630 genetic disease ISO RGD:1602073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928634 Mterf4 mitochondrial transcription termination factor 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1602073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8928642 Klhdc10 kelch domain containing 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8928642 Klhdc10 kelch domain containing 10 gene DOID:630 genetic disease ISO RGD:1602130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928642 Klhdc10 kelch domain containing 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1602130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8928663 Sinhcaf SIN3-HDAC complex associated factor gene DOID:1793 pancreatic cancer ISO RGD:1347576 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:35213078 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0050469 Costello syndrome ISO RGD:732398 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Costello syndrome PMID:10085122|PMID:10405326|PMID:10610467|PMID:10617660|PMID:11432788|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:15246915|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16715312|PMID:16777946|PMID:17101185|PMID:18533079|PMID:19033660|PMID:19150014|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22144547|PMID:22500102|PMID:22857948|PMID:23074333|PMID:23283745|PMID:24033266|PMID:24055113|PMID:24418317|PMID:24503780|PMID:24793961|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26507537|PMID:26681313|PMID:26743238|PMID:26914223|PMID:27022107|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28193612|PMID:28492532|PMID:28771489|PMID:29121657|PMID:2946667|PMID:30645170|PMID:30762279|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:32815737|PMID:33148509|PMID:34008892|PMID:35514357|PMID:36264615|PMID:37431535|PMID:7898523 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:27022107|PMID:27036851|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28166811|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29661763|PMID:29773157|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31737537|PMID:31918855|PMID:32581830|PMID:32690703|PMID:33025817|PMID:33148509|PMID:34008892|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33500567|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12746413|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31648988|PMID:31737537|PMID:31918855|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34426522|PMID:34540771|PMID:34699384|PMID:34853230|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10965086|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12746413|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26453544|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29892087|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30429050|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31424582|PMID:31648988|PMID:31737537|PMID:31780822|PMID:31918855|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34540771|PMID:34853230|PMID:34930847|PMID:35020984|PMID:36277766|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10965086|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12746413|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17932326|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20215591|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25786579|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26453544|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27082122|PMID:27153395|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27576561|PMID:27600940|PMID:27841901|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:2946667|PMID:29540472|PMID:29661763|PMID:29773157|PMID:29892087|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30429050|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31424582|PMID:31648988|PMID:31737537|PMID:31780822|PMID:31918855|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32344918|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33673806|PMID:34008892|PMID:34135346|PMID:34213952|PMID:34350506|PMID:34540771|PMID:34853230|PMID:34930847|PMID:35020984|PMID:36277766|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9140840|PMID:9154300|PMID:9536098|PMID:9637714|PMID:9714088 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:10965086|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12707239|PMID:12746413|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15201162|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:181617|PMID:18349139|PMID:18403758|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19293840|PMID:19412328|PMID:19466586|PMID:19645627|PMID:19754353|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20200100|PMID:20215591|PMID:2025668|PMID:20414521|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20530761|PMID:20624503|PMID:20800588|PMID:209243|PMID:209262|PMID:20973921|PMID:20978592|PMID:21245263|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23054336|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25086479|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26183555|PMID:26453544|PMID:26455666|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27082122|PMID:27153395|PMID:27332903|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27552257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27841901|PMID:27930701|PMID:28008009|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28615295|PMID:28640247|PMID:28706299|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29398688|PMID:29447731|PMID:2946667|PMID:29540472|PMID:29572196|PMID:29661763|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30165862|PMID:30297972|PMID:30429050|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30645170|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31424582|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31780822|PMID:31918855|PMID:31941943|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32481709|PMID:32492895|PMID:32581830|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33559798|PMID:33673806|PMID:33996946|PMID:34008892|PMID:34076677|PMID:34087240|PMID:34135346|PMID:34213952|PMID:34350506 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:732398 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Hypokinetic non-dilated cardiomyopathy PMID:34540771|PMID:34853230|PMID:34930847|PMID:34935411|PMID:35020984|PMID:35514357|PMID:35653365|PMID:36129056|PMID:36166435|PMID:36252119|PMID:36264615|PMID:36277766|PMID:36291626|PMID:37431535|PMID:541918|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030|PMID:936231|PMID:9536098|PMID:9637714|PMID:9714088 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0060480 left ventricular noncompaction ISO RGD:732398 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:22958901|PMID:24033266|PMID:25741868|PMID:33500567|PMID:34691145|PMID:34697415|PMID:36129056 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:732398 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:16858239|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19293840|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20200100|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20530761|PMID:20624503|PMID:20800588|PMID:209262|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29572196|PMID:29661763|PMID:29875424|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30645170|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31780822|PMID:31983221|PMID:32098556|PMID:32228044|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33673806|PMID:34008892|PMID:35020984|PMID:35514357|PMID:36129056|PMID:36264615|PMID:37431535|PMID:541918|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9201030|PMID:9714088 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0080600 COVID-19 severity ISO RGD:732398 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32297828|REF_RGD_ID:32716368 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33559798|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31941943|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33559798|PMID:34008892|PMID:34426522|PMID:34699384|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29661763|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31780822|PMID:31941943|PMID:31983221|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33559798|PMID:33673806|PMID:34008892|PMID:35020984|PMID:36129056|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:732398 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10085122|PMID:10405326|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10610467|PMID:10617660|PMID:10978365|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11968089|PMID:12084606|PMID:12409295|PMID:12707239|PMID:12818575|PMID:12860912|PMID:12881443|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15519027|PMID:15542288|PMID:15631686|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:17101185|PMID:17612745|PMID:18029407|PMID:18403758|PMID:18533079|PMID:18612386|PMID:19033660|PMID:19035361|PMID:19150014|PMID:19275886|PMID:19293840|PMID:19412328|PMID:19645627|PMID:19880069|PMID:19914256|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20200100|PMID:20215591|PMID:20414521|PMID:20439259|PMID:20624503|PMID:20800588|PMID:209262|PMID:21310275|PMID:21483645|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22455086|PMID:22500102|PMID:22579624|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23396983|PMID:23494605|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24111713|PMID:24418317|PMID:24503780|PMID:24721642|PMID:24793961|PMID:25086479|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25741868|PMID:26183555|PMID:26468400|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27074551|PMID:27082122|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28356264|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28973083|PMID:29121657|PMID:2946667|PMID:29572196|PMID:29661763|PMID:29875424|PMID:29907873|PMID:30165862|PMID:30297972|PMID:30565988|PMID:30645170|PMID:30762279|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31513939|PMID:31737537|PMID:31780822|PMID:31941943|PMID:31983221|PMID:32098556|PMID:32290750|PMID:32344918|PMID:32492895|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33559798|PMID:33673806|PMID:34008892|PMID:35020984|PMID:35514357|PMID:36129056|PMID:36264615|PMID:37431535|PMID:541918|PMID:7898523|PMID:8205619|PMID:8951566|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732398 D RGD:7240710 20180130 OMIM 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732398 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:10085122|PMID:10405326|PMID:10449439|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:10965086|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12746413|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15000344|PMID:15201162|PMID:15246915|PMID:15358028|PMID:15387941|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:16858239|PMID:17101185|PMID:17278368|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18056765|PMID:18154728|PMID:181617|PMID:18258667|PMID:18349139|PMID:18403758|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:18809796|PMID:19033660|PMID:19035361|PMID:19061534|PMID:19087273|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19293840|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19487599|PMID:19645627|PMID:19659763|PMID:19754353|PMID:19880069|PMID:19914256|PMID:19996403|PMID:2003160|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20159828|PMID:20200100|PMID:20215591|PMID:2025668|PMID:20298698|PMID:20414521|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20800588|PMID:209243|PMID:209262|PMID:20973921|PMID:20978592|PMID:21185001|PMID:21245263|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21511876|PMID:21551322|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22517884|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:23897817|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24691700|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26084686|PMID:26095046|PMID:26183555|PMID:26453544|PMID:26455666|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27074551|PMID:27082122|PMID:27153395|PMID:27332903|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27552257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27757084|PMID:27841901|PMID:27930701|PMID:28008009|PMID:28073646|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28246128|PMID:28252636|PMID:28255936|PMID:28352236|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28588840|PMID:28615295|PMID:28640247|PMID:28669108|PMID:28706299|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29016939|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29367541|PMID:29398688|PMID:29447731|PMID:2946667|PMID:29540472|PMID:29572196|PMID:29661763|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30143482|PMID:30165862|PMID:30297972|PMID:30429050|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30645170 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110308 hypertrophic cardiomyopathy 2 ISO RGD:732398 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31373515|PMID:31424582|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31780822|PMID:31918855|PMID:31937807|PMID:31941943|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32228044|PMID:32290750|PMID:32344918|PMID:32481709|PMID:32492895|PMID:32581830|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32846832|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33559798|PMID:33673806|PMID:33996946|PMID:34008892|PMID:34036930|PMID:34076677|PMID:34087240|PMID:34135346|PMID:34161147|PMID:34213952|PMID:34350506|PMID:34540771|PMID:34853230|PMID:34930847|PMID:34935411|PMID:35020984|PMID:35514357|PMID:35653365|PMID:36129056|PMID:36166435|PMID:36252119|PMID:36264615|PMID:36277766|PMID:36291626|PMID:36698941|PMID:37431535|PMID:541918|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9154300|PMID:9201030|PMID:936231|PMID:9536098|PMID:9637714|PMID:9714088|PMID:9788962 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110426 dilated cardiomyopathy 1D ISO RGD:732398 D RGD:7240710 20180130 OMIM 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110426 dilated cardiomyopathy 1D ISO RGD:732398 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1D | ClinVar Annotator: match by term: Left ventricular noncompaction 6 PMID:10085122|PMID:10405326|PMID:10449439|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:10965086|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15000344|PMID:15201162|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16715312|PMID:16754800|PMID:16777946|PMID:16858239|PMID:17101185|PMID:17278368|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18056765|PMID:18154728|PMID:181617|PMID:18258667|PMID:18349139|PMID:18403758|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:18809796|PMID:19033660|PMID:19035361|PMID:19061534|PMID:19087273|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19293840|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19487599|PMID:19645627|PMID:19754353|PMID:19880069|PMID:19914256|PMID:19996403|PMID:2003160|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20159828|PMID:20200100|PMID:20215591|PMID:2025668|PMID:20298698|PMID:20414521|PMID:20439259|PMID:20458009|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20800588|PMID:209243|PMID:209262|PMID:20973921|PMID:20978592|PMID:21185001|PMID:21245263|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21511876|PMID:21551322|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22517884|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24691700|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26183555|PMID:26453544|PMID:26455666|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27074551|PMID:27082122|PMID:27153395|PMID:27332903|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27552257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27757084|PMID:27841901|PMID:27930701|PMID:28008009|PMID:28073646|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28246128|PMID:28252636|PMID:28255936|PMID:28352236|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28588840|PMID:28615295|PMID:28640247|PMID:28669108|PMID:28706299|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29016939|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29367541|PMID:29398688|PMID:29447731|PMID:2946667|PMID:29540472|PMID:29572196|PMID:29661763|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30143482|PMID:30165862|PMID:30297972|PMID:30429050|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30645170|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110426 dilated cardiomyopathy 1D ISO RGD:732398 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1D | ClinVar Annotator: match by term: Left ventricular noncompaction 6 PMID:31006259|PMID:31019283|PMID:31323898|PMID:31373515|PMID:31424582|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31780822|PMID:31918855|PMID:31937807|PMID:31941943|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32228044|PMID:32290750|PMID:32344918|PMID:32481709|PMID:32492895|PMID:32581830|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32846832|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33500567|PMID:33559798|PMID:33673806|PMID:33996946|PMID:34008892|PMID:34076677|PMID:34087240|PMID:34135346|PMID:34161147|PMID:34213952|PMID:34350506|PMID:34540771|PMID:34853230|PMID:34930847|PMID:34935411|PMID:35020984|PMID:35514357|PMID:35653365|PMID:36129056|PMID:36166435|PMID:36252119|PMID:36264615|PMID:36277766|PMID:36291626|PMID:36698941|PMID:37431535|PMID:541918|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9201030|PMID:936231|PMID:9536098|PMID:9637714|PMID:9714088|PMID:9788962 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:732398 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15542288|PMID:16199547|PMID:19412328|PMID:20031601|PMID:20215591|PMID:20973921|PMID:21483645|PMID:22958901|PMID:23349452|PMID:24033266|PMID:24503780|PMID:25448463|PMID:25524337|PMID:25741868|PMID:26084686|PMID:26498512|PMID:26779504|PMID:27411801|PMID:27532257|PMID:27576561|PMID:28492532|PMID:29367539|PMID:29773157|PMID:29892087|PMID:30429050|PMID:30847666|PMID:31983221|PMID:32746448|PMID:36277766 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:732398 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:15358028|PMID:16199547|PMID:19754353|PMID:2025668|PMID:24033266|PMID:24992688|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:28973951|PMID:30847666|PMID:31983221|PMID:33025817|PMID:33297573|PMID:34213952|PMID:34540771|PMID:34853230|PMID:36264615 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0110458 dilated cardiomyopathy 1BB ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial isolated dilated cardiomyopathy PMID:11684629|PMID:12923187|PMID:14654368|PMID:15623536|PMID:15769782|PMID:15923195|PMID:17932326|PMID:18349139|PMID:18506004|PMID:18606313|PMID:19253838|PMID:21846512|PMID:22675533|PMID:23539503|PMID:24033266|PMID:24367593|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26656454|PMID:27532257|PMID:28492532 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0111427 restrictive cardiomyopathy 3 ISO RGD:732398 D RGD:7240710 20180130 OMIM 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0111427 restrictive cardiomyopathy 3 ISO RGD:732398 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3 PMID:10085122|PMID:10405326|PMID:10449439|PMID:10467159|PMID:10497196|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:10965086|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11106718|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11773635|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15000344|PMID:15201162|PMID:15246915|PMID:15358028|PMID:15464434|PMID:15519027|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16199547|PMID:16326803|PMID:16651346|PMID:16715312|PMID:16754800|PMID:16777946|PMID:16858239|PMID:17101185|PMID:17278368|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18032382|PMID:18056765|PMID:18154728|PMID:181617|PMID:18258667|PMID:18349139|PMID:18403758|PMID:18467357|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:18809796|PMID:19033660|PMID:19035361|PMID:19061534|PMID:19087273|PMID:19150014|PMID:19253838|PMID:19275886|PMID:19293840|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19487599|PMID:19645627|PMID:19754353|PMID:19880069|PMID:19914256|PMID:19996403|PMID:2003160|PMID:20031601|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20079745|PMID:20083571|PMID:20159828|PMID:20200100|PMID:20215591|PMID:20298698|PMID:20414521|PMID:20439259|PMID:20474083|PMID:20513729|PMID:20530761|PMID:20624503|PMID:20800588|PMID:209243|PMID:209262|PMID:20973921|PMID:20978592|PMID:21185001|PMID:21245263|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21511876|PMID:21551322|PMID:21683708|PMID:21846512|PMID:22017532|PMID:22112859|PMID:22144547|PMID:22292720|PMID:22321274|PMID:22334656|PMID:22337857|PMID:22429680|PMID:22455086|PMID:22464770|PMID:22500102|PMID:22517884|PMID:22579624|PMID:22675533|PMID:22857948|PMID:22958901|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23299917|PMID:23349452|PMID:23383212|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23711808|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24055113|PMID:24093860|PMID:24111713|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24418317|PMID:24480310|PMID:24503780|PMID:24691700|PMID:24721642|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25086479|PMID:25132132|PMID:25351510|PMID:25448463|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26183555|PMID:26453544|PMID:26455666|PMID:26468400|PMID:26498512|PMID:26507537|PMID:26633542|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26688388|PMID:26743238|PMID:26779504|PMID:26899768|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27074551|PMID:27082122|PMID:27332903|PMID:27411801|PMID:27483260|PMID:27493864|PMID:27532257|PMID:27552257|PMID:27576561|PMID:27600940|PMID:27707468|PMID:27757084|PMID:27841901|PMID:27930701|PMID:28008009|PMID:28073646|PMID:28087566|PMID:28138913|PMID:28193612|PMID:28202948|PMID:28246128|PMID:28252636|PMID:28255936|PMID:28352236|PMID:28356264|PMID:28408708|PMID:28416588|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28588840|PMID:28615295|PMID:28640247|PMID:28669108|PMID:28706299|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28971120|PMID:28973083|PMID:28973951|PMID:29016939|PMID:29121657|PMID:29247119|PMID:29367539|PMID:29367541|PMID:29398688|PMID:29447731|PMID:2946667|PMID:29540472|PMID:29572196|PMID:29661763|PMID:29773157|PMID:29875424|PMID:29892087|PMID:29907873|PMID:29988065|PMID:30143482|PMID:30165862|PMID:30297972|PMID:30429050|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30645170|PMID:30762279|PMID:30763825|PMID:30847666|PMID:30871747|PMID:30972196|PMID:31006259 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0111427 restrictive cardiomyopathy 3 ISO RGD:732398 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3 PMID:31019283|PMID:31323898|PMID:31373515|PMID:31424582|PMID:31513939|PMID:31514951|PMID:31648988|PMID:31737537|PMID:31780822|PMID:31918855|PMID:31937807|PMID:31941943|PMID:31983221|PMID:32041989|PMID:32098556|PMID:32228044|PMID:32290750|PMID:32344918|PMID:32481709|PMID:32492895|PMID:32581830|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32746448|PMID:32815737|PMID:32846832|PMID:32880476|PMID:32969603|PMID:33025817|PMID:33029862|PMID:33087929|PMID:33148509|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33559798|PMID:33673806|PMID:33996946|PMID:34008892|PMID:34087240|PMID:34135346|PMID:34161147|PMID:34350506|PMID:34853230|PMID:34930847|PMID:34935411|PMID:35020984|PMID:35514357|PMID:35653365|PMID:36129056|PMID:36252119|PMID:36264615|PMID:36277766|PMID:36291626|PMID:36698941|PMID:37431535|PMID:541918|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9201030|PMID:936231|PMID:9536098|PMID:9637714|PMID:9714088|PMID:9788962 8928672 Tnnt2 troponin T2, cardiac type gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:732398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8928672 Tnnt2 troponin T2, cardiac type gene DOID:114 heart disease ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17848144 8928672 Tnnt2 troponin T2, cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732398 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10085122|PMID:10405326|PMID:10449439|PMID:10521296|PMID:10525521|PMID:10529204|PMID:10610467|PMID:10617660|PMID:10850966|PMID:10978365|PMID:11034944|PMID:11060291|PMID:11060294|PMID:11113119|PMID:11158969|PMID:11346248|PMID:11432788|PMID:11560853|PMID:11606294|PMID:11684629|PMID:11968089|PMID:12084606|PMID:12186860|PMID:12409295|PMID:12473556|PMID:12707239|PMID:12818575|PMID:12840750|PMID:12860912|PMID:12881443|PMID:12923187|PMID:12974739|PMID:14563299|PMID:14636924|PMID:14640471|PMID:14654368|PMID:14722098|PMID:15246915|PMID:15542288|PMID:15563892|PMID:15568820|PMID:15623536|PMID:15631686|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16115294|PMID:16115869|PMID:16199542|PMID:16326803|PMID:16651346|PMID:16715312|PMID:16777946|PMID:16858239|PMID:17101185|PMID:17456375|PMID:17576681|PMID:17612745|PMID:17932326|PMID:18029407|PMID:18032382|PMID:18258667|PMID:18349139|PMID:18403758|PMID:18506004|PMID:18533079|PMID:18606313|PMID:18612386|PMID:18651846|PMID:18809796|PMID:19033660|PMID:19087273|PMID:19150014|PMID:19253838|PMID:19487599|PMID:19880069|PMID:19914256|PMID:19996403|PMID:2003160|PMID:20031602|PMID:20031618|PMID:20038417|PMID:20057144|PMID:20159828|PMID:20200100|PMID:20414521|PMID:20439259|PMID:20513729|PMID:20624503|PMID:20800588|PMID:21185001|PMID:21245263|PMID:21310275|PMID:21511876|PMID:21683708|PMID:21846512|PMID:22144547|PMID:22321274|PMID:22334656|PMID:22500102|PMID:22579624|PMID:22675533|PMID:22857948|PMID:23074333|PMID:23233322|PMID:23283745|PMID:23396983|PMID:23494605|PMID:23539503|PMID:23663841|PMID:23674365|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24367593|PMID:24418317|PMID:24503780|PMID:24691700|PMID:24793961|PMID:24992688|PMID:25031304|PMID:25351510|PMID:25524337|PMID:25611685|PMID:25637381|PMID:25668678|PMID:25681424|PMID:25741868|PMID:25849606|PMID:26183555|PMID:26507537|PMID:26656175|PMID:26656454|PMID:26681313|PMID:26743238|PMID:26914223|PMID:26936621|PMID:27022107|PMID:27036851|PMID:27483260|PMID:27532257|PMID:27600940|PMID:27707468|PMID:27930701|PMID:28073646|PMID:28193612|PMID:28252636|PMID:28408708|PMID:28420666|PMID:28492532|PMID:28566242|PMID:28615295|PMID:28735292|PMID:28771489|PMID:28790153|PMID:28971120|PMID:28973951|PMID:29121657|PMID:2946667|PMID:29572196|PMID:29875424|PMID:30297972|PMID:30555609|PMID:30565988|PMID:30585570|PMID:30645170|PMID:30762279|PMID:30847666|PMID:30972196|PMID:31006259|PMID:31019283|PMID:31323898|PMID:31424582|PMID:31513939|PMID:31737537|PMID:31780822|PMID:31941943|PMID:32228044|PMID:32290750|PMID:32481709|PMID:32581830|PMID:32690703|PMID:32746448|PMID:32815737|PMID:33025817|PMID:33148509|PMID:33297573|PMID:33495596|PMID:33495597|PMID:33559798|PMID:34008892|PMID:34087240|PMID:35020984|PMID:35514357|PMID:36264615|PMID:36291626|PMID:36698941|PMID:37431535|PMID:541918|PMID:7898523|PMID:7981753|PMID:8205619|PMID:8951566|PMID:8958207|PMID:9060892|PMID:9140840|PMID:9201030|PMID:9536098|PMID:9637714|PMID:9714088|PMID:9788962 8928672 Tnnt2 troponin T2, cardiac type gene DOID:12716 newborn respiratory distress syndrome ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10789933 8928672 Tnnt2 troponin T2, cardiac type gene DOID:1287 cardiovascular system disease ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14761428 8928672 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28669108|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30565988|PMID:31333075|PMID:31568572|PMID:7898523 8928672 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28669108|PMID:28973951|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30565988|PMID:31333075|PMID:31568572|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34213952|PMID:34540771|PMID:7898523 8928672 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31937807|PMID:31983221|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 8928672 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26498512|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31937807|PMID:31983221|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34161147|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 8928672 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26498512|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31937807|PMID:31983221|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34161147|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 8928672 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26498512|PMID:26507537|PMID:26656454|PMID:26779504|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28973951|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31918855|PMID:31937807|PMID:31983221|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33297573|PMID:34161147|PMID:34213952|PMID:34540771|PMID:34853230|PMID:7898523 8928672 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:19466586|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:20298698|PMID:20973921|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26498512|PMID:26507537|PMID:26656454|PMID:26779504|PMID:26899768|PMID:27153395|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28706299|PMID:28973951|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31918855|PMID:31937807|PMID:31983221|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33223521|PMID:33297573|PMID:34135346|PMID:34161147|PMID:34213952|PMID:34350506|PMID:34540771|PMID:34853230|PMID:7898523 8928672 Tnnt2 troponin T2, cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:732398 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11684629|PMID:12707239|PMID:12818575|PMID:12881443|PMID:12923187|PMID:14636924|PMID:14654368|PMID:15464434|PMID:15542288|PMID:15623536|PMID:15769782|PMID:15923195|PMID:15958377|PMID:16093482|PMID:17101185|PMID:17278368|PMID:17932326|PMID:18056765|PMID:18154728|PMID:181617|PMID:18349139|PMID:18467357|PMID:18506004|PMID:18606313|PMID:19253838|PMID:19324435|PMID:19412328|PMID:19466586|PMID:19645627|PMID:20031601|PMID:20031618|PMID:20083571|PMID:20215591|PMID:2025668|PMID:20298698|PMID:209243|PMID:20973921|PMID:21310275|PMID:21415410|PMID:21424860|PMID:21483645|PMID:21551322|PMID:21846512|PMID:22292720|PMID:22429680|PMID:22464770|PMID:22517884|PMID:22675533|PMID:22958901|PMID:23074333|PMID:23349452|PMID:23539503|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24119082|PMID:24205113|PMID:24367593|PMID:24503780|PMID:24992688|PMID:25524337|PMID:25611685|PMID:25681424|PMID:25741868|PMID:26084686|PMID:26095046|PMID:26498512|PMID:26507537|PMID:26656454|PMID:26779504|PMID:26899768|PMID:27153395|PMID:27332903|PMID:27411801|PMID:27532257|PMID:27576561|PMID:27757084|PMID:28008009|PMID:28246128|PMID:28255936|PMID:28352236|PMID:28416588|PMID:28492532|PMID:28588840|PMID:28669108|PMID:28706299|PMID:28973951|PMID:29121657|PMID:29367539|PMID:29367541|PMID:29773157|PMID:30297972|PMID:30565988|PMID:30763825|PMID:30847666|PMID:30871747|PMID:31333075|PMID:31373515|PMID:31568572|PMID:31918855|PMID:31937807|PMID:31983221|PMID:32618513|PMID:32659924|PMID:32690703|PMID:32880476|PMID:33025817|PMID:33223521|PMID:33297573|PMID:33495596|PMID:33996946|PMID:34135346|PMID:34161147|PMID:34213952|PMID:34350506|PMID:34540771|PMID:34853230|PMID:35653365|PMID:36252119|PMID:36264615|PMID:7898523|PMID:936231 8928672 Tnnt2 troponin T2, cardiac type gene DOID:1540 parathyroid carcinoma ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8928672 Tnnt2 troponin T2, cardiac type gene DOID:2752 glycogen storage disease II ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26787432 8928672 Tnnt2 troponin T2, cardiac type gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18068611 8928672 Tnnt2 troponin T2, cardiac type gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:732398 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:14636924|PMID:16115869|PMID:16858239|PMID:18533079|PMID:23074333|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29875424|PMID:32228044|PMID:33025817|PMID:35514357|PMID:9714088 8928672 Tnnt2 troponin T2, cardiac type gene DOID:397 restrictive cardiomyopathy ISO RGD:732398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:10525521|PMID:10978365|PMID:11606294|PMID:12818575|PMID:12881443|PMID:14636924|PMID:14654368|PMID:14722098|PMID:15542288|PMID:15958377|PMID:17101185|PMID:20031602|PMID:20624503|PMID:22112859|PMID:23283745|PMID:23711808|PMID:23861362|PMID:24033266|PMID:24111713|PMID:25741868|PMID:27074551|PMID:28492532|PMID:29907873|PMID:7898523 8928672 Tnnt2 troponin T2, cardiac type gene DOID:5844 myocardial infarction ISO RGD:732398 D RGD:9068941 20200609 RGD PMID:15226628|REF_RGD_ID:1580441 8928672 Tnnt2 troponin T2, cardiac type gene DOID:6000 congestive heart failure ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12322705|PMID:17698733 8928672 Tnnt2 troponin T2, cardiac type gene DOID:630 genetic disease ISO RGD:732398 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9000006 Supraventricular Tachycardia ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:15631686|PMID:16754800|PMID:19645627|PMID:21846512|PMID:22017532|PMID:22455086|PMID:22958901|PMID:23233322|PMID:23299917|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25351510|PMID:25637381|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30871747 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:732398 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12818575|PMID:12881443|PMID:14636924|PMID:15542288|PMID:15958377|PMID:17101185|PMID:17576681|PMID:2025668|PMID:22958901|PMID:23861362|PMID:24033266|PMID:24093860|PMID:24503780|PMID:24992688|PMID:25741868|PMID:26507537|PMID:27153395|PMID:28255936|PMID:28492532|PMID:28973951|PMID:30297972|PMID:30763825|PMID:32880476|PMID:33025817|PMID:33297573|PMID:33495596|PMID:34213952|PMID:34540771|PMID:34853230|PMID:36264615|PMID:7898523|PMID:9536098 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9001686 Acute Coronary Syndrome ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15966572 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14618274 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9003936 Cardiomegaly ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17556660 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732398 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Increased left ventricular wall thickness | ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:15631686|PMID:16754800|PMID:19645627|PMID:21846512|PMID:22017532|PMID:22455086|PMID:22958901|PMID:23233322|PMID:23299917|PMID:24033266|PMID:24055113|PMID:24503780|PMID:25351510|PMID:25637381|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30871747 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9005141 Ventricular Tachycardia ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12600890 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9005749 Necrosis ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17848144 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9007102 Myocardial Ischemia ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10789933 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9007174 Ventricular Remodeling ISO RGD:3882 D RGD:9068941 20230826 RGD associated with diesel exhaust particulates exposure; protein:increased expression:heart left ventricle (rat) PMID:23887904|REF_RGD_ID:401794424 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9007588 Heart Injuries ISO RGD:732398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19854236 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9007925 Sudden Cardiac Death ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23233322|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532 8928672 Tnnt2 troponin T2, cardiac type gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8928726 Edaradd EDAR associated via death domain gene DOID:0050591 tooth agenesis ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis PMID:25741868 8928726 Edaradd EDAR associated via death domain gene DOID:0111653 ectodermal dysplasia 11A ISO RGD:1351297 D RGD:7240710 20180130 OMIM 8928726 Edaradd EDAR associated via death domain gene DOID:0111653 ectodermal dysplasia 11A ISO RGD:1351297 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant PMID:11780064|PMID:17354266|PMID:20222921|PMID:20979233|PMID:21626677|PMID:25640679|PMID:25741868|PMID:28492532|PMID:33502802 8928726 Edaradd EDAR associated via death domain gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1351297 D RGD:7240710 20180130 OMIM 8928726 Edaradd EDAR associated via death domain gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1351297 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive PMID:11212737|PMID:11780064|PMID:17354266|PMID:25741868|PMID:26440664|PMID:26991760|PMID:28492532|PMID:34219261|PMID:9245989 8928726 Edaradd EDAR associated via death domain gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:11780064|PMID:17354266|PMID:20222921|PMID:9245989 8928726 Edaradd EDAR associated via death domain gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 8928726 Edaradd EDAR associated via death domain gene DOID:10754 otitis media ISO RGD:1564010 D RGD:9068941 20200609 RGD PMID:31028034|REF_RGD_ID:14398763 8928726 Edaradd EDAR associated via death domain gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1351297 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:20222921|PMID:20979233|PMID:21626677|PMID:25741868|PMID:28492532 8928726 Edaradd EDAR associated via death domain gene DOID:1540 parathyroid carcinoma ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8928726 Edaradd EDAR associated via death domain gene DOID:2121 ectodermal dysplasia ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive PMID:25741868|PMID:28492532 8928726 Edaradd EDAR associated via death domain gene DOID:630 genetic disease ISO RGD:1351297 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8928726 Edaradd EDAR associated via death domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8928760 Rab42 RAB42, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1604758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1602673 D RGD:9068941 20200609 RGD DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) PMID:19064721|REF_RGD_ID:11352306 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602673 D RGD:7240710 20180130 OMIM 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:12511588|PMID:16199547|PMID:17576681|PMID:18779414|PMID:19064721|PMID:19234460|PMID:19234463|PMID:20357244|PMID:21441448|PMID:22134107|PMID:22564402|PMID:24033266|PMID:25741868|PMID:26359933|PMID:28492532|PMID:9536098 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:1059 intellectual disability ISO RGD:1602673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:13533 osteopetrosis ISO RGD:1602673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18278053 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:2218 blood platelet disease ISO RGD:1602673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18278053 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:2394 ovarian cancer ISO RGD:1310168 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22818854|REF_RGD_ID:11035257 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:3070 high grade glioma ISO RGD:1602673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:630 genetic disease ISO RGD:1602673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:6612 leukocyte adhesion deficiency ISO RGD:1602673 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency PMID:25741868|PMID:28492532 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:9000146 Plaque, Atherosclerotic severity ISO RGD:1602673 D RGD:9068941 20200609 RGD mRNA:increased expression:artery PMID:26188538|REF_RGD_ID:11085957 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:9008217 Hemorrhage ISO RGD:1602673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18278053 8928766 Fermt3 FERM domain containing kindlin 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1602673 D RGD:9068941 20200609 RGD PMID:22391155|REF_RGD_ID:11352307 8928785 Ephb1 EPH receptor B1 gene DOID:0080600 COVID-19 ISO RGD:1353347 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8928785 Ephb1 EPH receptor B1 gene DOID:0080685 aortic dissection ISO RGD:1353347 D RGD:9068941 20220929 RGD protein:increased phosphorylation:aorta (human) PMID:30787994|REF_RGD_ID:155260309 8928785 Ephb1 EPH receptor B1 gene DOID:10283 prostate cancer susceptibility ISO RGD:1353347 D RGD:9068941 20220811 RGD DNA:SNPs,haplptype:multiple PMID:21603658|REF_RGD_ID:153305950 8928785 Ephb1 EPH receptor B1 gene DOID:10534 stomach cancer ISO RGD:1353347 D RGD:9068941 20220811 RGD mRNA:increased expression:stomach (human) PMID:12136247|REF_RGD_ID:153323289 8928785 Ephb1 EPH receptor B1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2556 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 8928785 Ephb1 EPH receptor B1 gene DOID:630 genetic disease ISO RGD:1353347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928785 Ephb1 EPH receptor B1 gene DOID:684 hepatocellular carcinoma ISO RGD:1551682 D RGD:9068941 20210702 RGD protein:increased phosphorylation:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 8928785 Ephb1 EPH receptor B1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1353347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8928808 Cldn2 claudin 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1352349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8928808 Cldn2 claudin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8928808 Cldn2 claudin 2 gene DOID:12336 male infertility ISO RGD:1352349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:31320686 8928808 Cldn2 claudin 2 gene DOID:12849 autistic disorder ISO RGD:1352349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8928808 Cldn2 claudin 2 gene DOID:4989 pancreatitis ISO RGD:1352349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143602 8928808 Cldn2 claudin 2 gene DOID:630 genetic disease ISO RGD:1352349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928808 Cldn2 claudin 2 gene DOID:9004144 AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS ISO RGD:1352349 D RGD:7240710 20210414 OMIM 8928808 Cldn2 claudin 2 gene DOID:9004144 AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS ISO RGD:1352349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia, obstructive, with nephrolithiasis PMID:31320686 8928820 Zfta zinc finger translocation associated gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2910589 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8928820 Zfta zinc finger translocation associated gene DOID:1059 intellectual disability ISO RGD:2910589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8928820 Zfta zinc finger translocation associated gene DOID:3070 high grade glioma ISO RGD:2910589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8928878 Slc18a1 solute carrier family 18 member A1 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:737319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8928878 Slc18a1 solute carrier family 18 member A1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:737319 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:16189177|REF_RGD_ID:5131200 8928878 Slc18a1 solute carrier family 18 member A1 gene DOID:3312 bipolar disorder ISO RGD:737319 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, cds:g.-584A>G (rs988713), p.T136I (rs1390938) (human) PMID:16936705|REF_RGD_ID:5131197 8928878 Slc18a1 solute carrier family 18 member A1 gene DOID:5419 schizophrenia ISO RGD:737319 D RGD:9068941 20200609 RGD DNA:snp:cds:p.T4P (human) PMID:18451639|REF_RGD_ID:5131198 8928878 Slc18a1 solute carrier family 18 member A1 gene DOID:630 genetic disease ISO RGD:737319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928898 Sybu syntabulin gene DOID:630 genetic disease ISO RGD:1604347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928916 Asip agouti signaling protein gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 8928916 Asip agouti signaling protein gene DOID:10123 pigmentation disease ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126|PMID:8146154 8928916 Asip agouti signaling protein gene DOID:14566 disease of cellular proliferation ISO RGD:69200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1473152 8928916 Asip agouti signaling protein gene DOID:161 keratosis ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 8928916 Asip agouti signaling protein gene DOID:1909 melanoma ISO RGD:69199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027|PMID:18641652|PMID:21983785 8928916 Asip agouti signaling protein gene DOID:2513 basal cell carcinoma ISO RGD:69199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 8928916 Asip agouti signaling protein gene DOID:2723 dermatitis ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 8928916 Asip agouti signaling protein gene DOID:2843 long QT syndrome ISO RGD:69199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8928916 Asip agouti signaling protein gene DOID:4195 hyperglycemia ISO RGD:69200 D RGD:9068941 20240111 CTD CTD Direct Evidence: marker/mechanism PMID:37769864 8928916 Asip agouti signaling protein gene DOID:630 genetic disease ISO RGD:69199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8928916 Asip agouti signaling protein gene DOID:9000197 Edema ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 8928916 Asip agouti signaling protein gene DOID:9000784 Fibrosis ISO RGD:69200 D RGD:9068941 20240111 CTD CTD Direct Evidence: marker/mechanism PMID:37769864 8928916 Asip agouti signaling protein gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 8928916 Asip agouti signaling protein gene DOID:9001276 Failure to Thrive ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 8928916 Asip agouti signaling protein gene DOID:9002053 Furunculosis ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 8928916 Asip agouti signaling protein gene DOID:9002165 Diabetic Nephropathies ISO RGD:69200 D RGD:9068941 20240111 CTD CTD Direct Evidence: marker/mechanism PMID:37769864 8928916 Asip agouti signaling protein gene DOID:9002221 Hyperplasia ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32937126 8928916 Asip agouti signaling protein gene DOID:9003386 Sunburn ISO RGD:69199 D RGD:7240710 20221214 OMIM 8928916 Asip agouti signaling protein gene DOID:9003386 Sunburn ISO RGD:69199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR PMID:11833005|PMID:18488028 8928916 Asip agouti signaling protein gene DOID:9004464 Skin Neoplasms ISO RGD:69199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488027 8928916 Asip agouti signaling protein gene DOID:9004657 Weight Gain ISO RGD:69200 D RGD:9068941 20240111 CTD CTD Direct Evidence: marker/mechanism PMID:37769864 8928916 Asip agouti signaling protein gene DOID:9007188 Liver Neoplasms ISO RGD:69200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15175105 8928916 Asip agouti signaling protein gene DOID:9351 diabetes mellitus ISO RGD:69200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1473152 8928916 Asip agouti signaling protein gene DOID:9351 diabetes mellitus ISO RGD:69200 D RGD:9068941 20200609 RGD associated with Obesity;DNA:mutation (mouse) PMID:10426381|REF_RGD_ID:2314006 8928916 Asip agouti signaling protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:69199 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:14633851|REF_RGD_ID:2313999 8928916 Asip agouti signaling protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:69200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8146154 8928916 Asip agouti signaling protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:69200 D RGD:9068941 20230720 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8928916 Asip agouti signaling protein gene DOID:9970 obesity ISO RGD:69200 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:1473152|PMID:25447408|PMID:25448685|PMID:32937126|PMID:8146154 8928916 Asip agouti signaling protein gene DOID:9970 obesity ISO RGD:69200 D RGD:9068941 20230720 MouseDO OMIM:601665 8928916 Asip agouti signaling protein gene DOID:9970 obesity susceptibility ISO RGD:69200 D RGD:9068941 20200609 RGD DNA, mRNA:deletion, insertions, increased expression: multiple organs PMID:7987393|REF_RGD_ID:1625724 8928930 Vps13d vacuolar protein sorting 13 homolog D gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8928930 Vps13d vacuolar protein sorting 13 homolog D gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1318152 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:25741868 8928930 Vps13d vacuolar protein sorting 13 homolog D gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1318152 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8928930 Vps13d vacuolar protein sorting 13 homolog D gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318152 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8928930 Vps13d vacuolar protein sorting 13 homolog D gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1318152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 8928930 Vps13d vacuolar protein sorting 13 homolog D gene DOID:0111611 autosomal recessive spinocerebellar ataxia 4 ISO RGD:1318152 D RGD:7240710 20190315 OMIM 8928930 Vps13d vacuolar protein sorting 13 homolog D gene DOID:0111611 autosomal recessive spinocerebellar ataxia 4 ISO RGD:1318152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome PMID:11960835|PMID:25741868|PMID:28492532|PMID:29518281|PMID:29604224|PMID:34906502 8928930 Vps13d vacuolar protein sorting 13 homolog D gene DOID:3652 Leigh disease ISO RGD:1318152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 8928930 Vps13d vacuolar protein sorting 13 homolog D gene DOID:630 genetic disease ISO RGD:1318152 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24776741|PMID:25741868|PMID:28492532|PMID:29518281|PMID:9536098 8928930 Vps13d vacuolar protein sorting 13 homolog D gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1318152 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Spinocerebellar atrophy PMID:25741868 8928930 Vps13d vacuolar protein sorting 13 homolog D gene DOID:9004657 Weight Gain ISO RGD:1318152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8928930 Vps13d vacuolar protein sorting 13 homolog D gene DOID:9008386 Hydrops Fetalis ISO RGD:1318152 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 8929040 Arpc5 actin related protein 2/3 complex subunit 5 gene DOID:0050328 congenital hypothyroidism ISO RGD:1311791 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:23459330|REF_RGD_ID:11049475 8929040 Arpc5 actin related protein 2/3 complex subunit 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1323427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8929040 Arpc5 actin related protein 2/3 complex subunit 5 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1323427 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:22089643|REF_RGD_ID:11049488 8929040 Arpc5 actin related protein 2/3 complex subunit 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323427 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:22089643|REF_RGD_ID:11049488 8929040 Arpc5 actin related protein 2/3 complex subunit 5 gene DOID:630 genetic disease ISO RGD:1323427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929040 Arpc5 actin related protein 2/3 complex subunit 5 gene DOID:9005112 Immunodeficiency 113 ISO RGD:1323427 D RGD:7240710 20231206 OMIM 8929040 Arpc5 actin related protein 2/3 complex subunit 5 gene DOID:9005112 Immunodeficiency 113 ISO RGD:1323427 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Immunodeficiency 133 with autoimmunity and autoinflammation PMID:37349293 8929040 Arpc5 actin related protein 2/3 complex subunit 5 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:1311791 D RGD:9068941 20200609 RGD PMID:17997938|REF_RGD_ID:11049469 8929040 Arpc5 actin related protein 2/3 complex subunit 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323427 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8929067 Zdbf2 zinc finger DBF-type containing 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8929067 Zdbf2 zinc finger DBF-type containing 2 gene DOID:3007 breast ductal carcinoma ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8929067 Zdbf2 zinc finger DBF-type containing 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1605970 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8929067 Zdbf2 zinc finger DBF-type containing 2 gene DOID:630 genetic disease ISO RGD:1605970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8929067 Zdbf2 zinc finger DBF-type containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8929067 Zdbf2 zinc finger DBF-type containing 2 gene DOID:9005806 Nasopalpebral Lipoma Coloboma Syndrome ISO RGD:1605970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome PMID:23636874|PMID:27139419 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1345696 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1345696 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1345696 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1345696 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1345696 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1345696 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:1826 epilepsy ISO RGD:1345696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:3652 Leigh disease ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:630 genetic disease ISO RGD:1345696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929077 Sapcd2 suppressor APC domain containing 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1345696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1312479 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:19732867|PMID:21465660|PMID:22975204|PMID:23226338|PMID:24033266|PMID:25741868|PMID:25792669|PMID:26969326|PMID:28000701|PMID:28492532|PMID:29676012|PMID:30311386|PMID:31152317|PMID:31547530|PMID:32860223|PMID:33753533|PMID:33892339 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1312479 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:16199547|PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:28000701|PMID:28492532|PMID:29676012|PMID:30311386 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0050567 orofacial cleft susceptibility ISO RGD:1312479 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1450425 (human) PMID:27242896|REF_RGD_ID:13204730 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0060356 Vici syndrome ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0080046 Stickler syndrome ISO RGD:1312479 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:28492532|PMID:30311386 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0110525 autosomal recessive nonsyndromic deafness 77 ISO RGD:1312479 D RGD:7240710 20180130 OMIM 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:0110525 autosomal recessive nonsyndromic deafness 77 ISO RGD:1312479 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 77 PMID:16199547|PMID:16936105|PMID:17576681|PMID:19732867|PMID:21465660|PMID:22341973|PMID:22975204|PMID:23226338|PMID:23804846|PMID:23897863|PMID:24033266|PMID:25251670|PMID:25333069|PMID:25741868|PMID:25792669|PMID:25938503|PMID:26346818|PMID:26467025|PMID:26561413|PMID:26763877|PMID:26969326|PMID:26973026|PMID:27068579|PMID:27246798|PMID:27959697|PMID:27984600|PMID:28000701|PMID:28383030|PMID:28492532|PMID:29309402|PMID:29669943|PMID:29676012|PMID:29799290|PMID:29907799|PMID:30123251|PMID:30311386|PMID:31152317|PMID:31547530|PMID:31709873|PMID:31827275|PMID:32165824|PMID:32279305|PMID:32682410|PMID:32860223|PMID:33753533|PMID:33892339|PMID:34171171|PMID:35440622|PMID:35711932|PMID:35802133|PMID:36147510|PMID:36633841|PMID:9536098 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:1059 intellectual disability ISO RGD:1312479 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:1312479 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:22341973|REF_RGD_ID:11072687 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1312479 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:16199547|PMID:19732867|PMID:21465660|PMID:25741868|PMID:25792669|PMID:28492532|PMID:32165824|PMID:33892339 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:630 genetic disease ISO RGD:1312479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:9004538 Hearing Loss ISO RGD:1312479 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:19732867|PMID:21465660|PMID:22341973|PMID:23804846|PMID:24033266|PMID:25741868|PMID:25792669|PMID:28000701|PMID:28492532|PMID:29309402|PMID:29676012|PMID:30311386|PMID:32682410|PMID:36147510 8929087 Loxhd1 lipoxygenase homology PLAT domains 1 gene DOID:9008681 Deafness ISO RGD:1312479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:25741868 8929141 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1349519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:25741868|PMID:28492532 8929141 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0080307 myofibrillar myopathy ISO RGD:1349519 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant PMID:26467025|PMID:27642634|PMID:28422763|PMID:28492532 8929141 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ISO RGD:1349519 D RGD:7240710 20180130 OMIM 8929141 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 ISO RGD:1349519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 1 PMID:10489050|PMID:17576681|PMID:20682716|PMID:21376592|PMID:22334415|PMID:22366786|PMID:23394708|PMID:24033266|PMID:24594375|PMID:24920671|PMID:25214167|PMID:25306414|PMID:25741868|PMID:26205529|PMID:26338452|PMID:26362252|PMID:26371419|PMID:26467025|PMID:26847086|PMID:27642634|PMID:27671536|PMID:28233300|PMID:28422763|PMID:28492532|PMID:28794355|PMID:28973549|PMID:29437287|PMID:29970176|PMID:30564623|PMID:30838352|PMID:31034989|PMID:31955980|PMID:32528171|PMID:8533766|PMID:9536098|PMID:9973293 8929141 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1349519 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 8929141 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1349519 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8929141 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:12849 autistic disorder ISO RGD:1349519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8929141 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:14330 Parkinson's disease ISO RGD:1349519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease PMID:25741868|PMID:28492532 8929141 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:630 genetic disease ISO RGD:1349519 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8929141 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:9005244 Vacuolar Neuromyopathy ISO RGD:1349519 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES PMID:10489050|PMID:17576681|PMID:20682716|PMID:21376592|PMID:22334415|PMID:22366786|PMID:23394708|PMID:24033266|PMID:24594375|PMID:24920671|PMID:25214167|PMID:25306414|PMID:25741868|PMID:26205529|PMID:26338452|PMID:26362252|PMID:26371419|PMID:26467025|PMID:26847086|PMID:27642634|PMID:27671536|PMID:28233300|PMID:28422763|PMID:28492532|PMID:28794355|PMID:28973549|PMID:29437287|PMID:29970176|PMID:30564623|PMID:30838352|PMID:31034989|PMID:31955980|PMID:32528171|PMID:8533766|PMID:9536098|PMID:9973293 8929141 Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 gene DOID:9005532 Muscle Weakness ISO RGD:1349519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868|PMID:28492532 8929159 Bcl2l13 BCL2 like 13 gene DOID:0111996 immunodeficiency 51 ISO RGD:1315911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8929159 Bcl2l13 BCL2 like 13 gene DOID:630 genetic disease ISO RGD:1315911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929159 Bcl2l13 BCL2 like 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8929159 Bcl2l13 BCL2 like 13 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315911 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8929175 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0060041 autism spectrum disorder ISO RGD:1343157 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8929175 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency PMID:25741868|PMID:28492532 8929175 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 8929175 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1343157 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8929175 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1343157 D RGD:7240710 20191030 OMIM 8929175 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1343157 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10479485|PMID:10699374|PMID:10814710|PMID:11524742|PMID:12442278|PMID:12721840|PMID:1522213|PMID:15235041|PMID:15241807|PMID:15309681|PMID:16199547|PMID:16287098|PMID:16378744|PMID:16837223|PMID:16959974|PMID:17576681|PMID:17876718|PMID:18710657|PMID:18792995|PMID:20574428|PMID:21506915|PMID:21644215|PMID:21896407|PMID:22078177|PMID:22178352|PMID:22327063|PMID:22487817|PMID:22521955|PMID:22940367|PMID:22976768|PMID:23137060|PMID:23227063|PMID:23313879|PMID:23401410|PMID:23430803|PMID:23844448|PMID:23876334|PMID:24033266|PMID:24035930|PMID:24120057|PMID:24389823|PMID:24411403|PMID:24726177|PMID:24767253|PMID:24773188|PMID:24875751|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25364648|PMID:25433535|PMID:25501214|PMID:25545067|PMID:25640679|PMID:25741868|PMID:26112015|PMID:26147980|PMID:26276046|PMID:26502894|PMID:27243974|PMID:27317439|PMID:27331011|PMID:27825773|PMID:28397226|PMID:28492532|PMID:28844463|PMID:29140481|PMID:29275451|PMID:29426755|PMID:29620724|PMID:29731656|PMID:29779902|PMID:29869463|PMID:30023300|PMID:30091983|PMID:30094185|PMID:30138938|PMID:30305043|PMID:30408610|PMID:30458289|PMID:30487145|PMID:30609409|PMID:30797135|PMID:30809705|PMID:30927141|PMID:30980944|PMID:31200731|PMID:3129221|PMID:31732130|PMID:31991612|PMID:32014045|PMID:32024277|PMID:32102177|PMID:32183856|PMID:32216080|PMID:32860008|PMID:32905071|PMID:32993725|PMID:33083013|PMID:33256811|PMID:33304816|PMID:33407246|PMID:33726816|PMID:33752727|PMID:34008892|PMID:34387910|PMID:34405919|PMID:34426522|PMID:34472180|PMID:34542925|PMID:34573925|PMID:34813777|PMID:34828358|PMID:34867278|PMID:35005816|PMID:35094026|PMID:35212421|PMID:35729508|PMID:35782601|PMID:36077388|PMID:7581409|PMID:7633425|PMID:7668283|PMID:7795586|PMID:7987329|PMID:8651279|PMID:8826435|PMID:8829629|PMID:8844220|PMID:9290256|PMID:9298823|PMID:9375852|PMID:9385378|PMID:9401012|PMID:9521421|PMID:9536098|PMID:9660054 8929175 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1343157 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome PMID:10814710|PMID:11524742|PMID:12442278|PMID:12721840|PMID:15235041|PMID:15241807|PMID:15309681|PMID:16287098|PMID:16837223|PMID:16959974|PMID:17576681|PMID:17876718|PMID:18710657|PMID:20574428|PMID:21506915|PMID:22521955|PMID:22940367|PMID:22976768|PMID:23227063|PMID:23401410|PMID:23430803|PMID:23844448|PMID:23876334|PMID:24033266|PMID:24035930|PMID:24120057|PMID:24389823|PMID:24726177|PMID:24773188|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25364648|PMID:25433535|PMID:25501214|PMID:25545067|PMID:25741868|PMID:26112015|PMID:26147980|PMID:26502894|PMID:27317439|PMID:28397226|PMID:28492532|PMID:28844463|PMID:29140481|PMID:29275451|PMID:29731656|PMID:29779902|PMID:29869463|PMID:30023300|PMID:30091983|PMID:30094185|PMID:30408610|PMID:30458289|PMID:30609409|PMID:30797135|PMID:30809705|PMID:30927141|PMID:30980944|PMID:31200731|PMID:31732130|PMID:32014045|PMID:32183856|PMID:32216080|PMID:32860008|PMID:32905071|PMID:32993725|PMID:33083013|PMID:33726816|PMID:34387910|PMID:34405919|PMID:34426522|PMID:34813777|PMID:34828358|PMID:35094026|PMID:35212421|PMID:35782601|PMID:36077388|PMID:7633425|PMID:7668283|PMID:7795586|PMID:8829629|PMID:9298823|PMID:9375852|PMID:9385378|PMID:9401012|PMID:9521421|PMID:9536098 8929175 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:14780 KBG syndrome ISO RGD:1343157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 8929175 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:2256 osteochondrodysplasia ISO RGD:1343157 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:1522213|PMID:20574428|PMID:22521955|PMID:23137060|PMID:25252036|PMID:25545067|PMID:25741868|PMID:28492532|PMID:30305043|PMID:31200731|PMID:31991612|PMID:32024277|PMID:33256811|PMID:34387910|PMID:35212421|PMID:9298823 8929175 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:630 genetic disease ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11524742|PMID:15235041|PMID:16287098|PMID:16837223|PMID:20574428|PMID:21506915|PMID:22940367|PMID:22976768|PMID:23876334|PMID:24035930|PMID:24120057|PMID:24726177|PMID:25137622|PMID:25252036|PMID:25287660|PMID:25545067|PMID:25741868|PMID:27331011|PMID:28492532|PMID:29731656|PMID:30458289|PMID:31200731|PMID:32014045|PMID:34387910|PMID:7633425|PMID:7795586|PMID:9298823|PMID:9375852 8929175 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1343157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8929175 Galns galactosamine (N-acetyl)-6-sulfatase gene DOID:9005372 Inflammation ISO RGD:1343157 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7849337 8929193 Lrit1 leucine rich repeat, Ig-like and transmembrane domains 1 gene DOID:630 genetic disease ISO RGD:736558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929214 Lysmd4 LysM domain containing 4 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1606711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8929214 Lysmd4 LysM domain containing 4 gene DOID:630 genetic disease ISO RGD:1606711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929230 Nop58 NOP58 ribonucleoprotein gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8929230 Nop58 NOP58 ribonucleoprotein gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8929230 Nop58 NOP58 ribonucleoprotein gene DOID:14557 primary pulmonary hypertension ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 8929230 Nop58 NOP58 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:733462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8929230 Nop58 NOP58 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:733462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929230 Nop58 NOP58 ribonucleoprotein gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:733462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8929230 Nop58 NOP58 ribonucleoprotein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8929230 Nop58 NOP58 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:733462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8929230 Nop58 NOP58 ribonucleoprotein gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:733462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8929230 Nop58 NOP58 ribonucleoprotein gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:733462 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23579436|PMID:26387786|PMID:32581362 8929249 Mark3 microtubule affinity regulating kinase 3 gene DOID:0070356 visual impairment and progressive phthisis bulbi ISO RGD:1353156 D RGD:7240710 20190724 OMIM 8929249 Mark3 microtubule affinity regulating kinase 3 gene DOID:0070356 visual impairment and progressive phthisis bulbi ISO RGD:1353156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visual impairment and progressive phthisis bulbi PMID:25741868|PMID:29771303 8929249 Mark3 microtubule affinity regulating kinase 3 gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1353156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 8929249 Mark3 microtubule affinity regulating kinase 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1353156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8929249 Mark3 microtubule affinity regulating kinase 3 gene DOID:630 genetic disease ISO RGD:1353156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:0060001 withdrawal disorder ISO RGD:732446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12511956 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:11832 visual epilepsy ISO RGD:62154 D RGD:9068941 20200609 RGD PMID:7502080|REF_RGD_ID:737715 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:1824 status epilepticus ISO RGD:61862 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:1824 status epilepticus ISO RGD:732446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19222700 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:4481 allergic rhinitis ISO RGD:732446 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:630 genetic disease ISO RGD:732446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27352031|PMID:31300657 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9000543 Death ISO RGD:62154 D RGD:9068941 20200609 RGD PMID:7502080|REF_RGD_ID:737715 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9002362 Hyperkinesis ISO RGD:732446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18171924 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9004042 Olfaction Disorders ISO RGD:732446 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34624383 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732446 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9005015 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:732446 D RGD:7240710 20201111 OMIM 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9005015 NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES ISO RGD:732446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment and behavioral abnormalities PMID:25741868|PMID:28492532|PMID:31300657 8929285 Gria2 glutamate ionotropic receptor AMPA type subunit 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18945913 8929315 Ppp1r3f protein phosphatase 1 regulatory subunit 3F gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8929315 Ppp1r3f protein phosphatase 1 regulatory subunit 3F gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1353330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8929315 Ppp1r3f protein phosphatase 1 regulatory subunit 3F gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1353330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8929315 Ppp1r3f protein phosphatase 1 regulatory subunit 3F gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1353330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8929315 Ppp1r3f protein phosphatase 1 regulatory subunit 3F gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1353330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8929315 Ppp1r3f protein phosphatase 1 regulatory subunit 3F gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1353330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8929315 Ppp1r3f protein phosphatase 1 regulatory subunit 3F gene DOID:12849 autistic disorder ISO RGD:1353330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8929315 Ppp1r3f protein phosphatase 1 regulatory subunit 3F gene DOID:630 genetic disease ISO RGD:1353330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1318721 D RGD:9068941 20210625 RGD protein:decreased expression:colon, nucleus PMID:27184481|REF_RGD_ID:127285648 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:1318721 D RGD:7240710 20240320 OMIM 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:1318721 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 PMID:11161377|PMID:17576681|PMID:22426308|PMID:22726846|PMID:23196062|PMID:23637025|PMID:23906836|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25326635|PMID:25462860|PMID:25741868|PMID:25981829|PMID:26364901|PMID:26987750|PMID:28177878|PMID:28492532|PMID:29230670|PMID:31273213|PMID:31759698|PMID:33024572|PMID:9536098 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0070480 schwannomatosis 1 ISO RGD:1318721 D RGD:7240710 20240320 OMIM 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0070480 schwannomatosis 1 ISO RGD:1318721 D RGD:8554872 20231024 ClinVar ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic PMID:17357086|PMID:18285426|PMID:18414213|PMID:18647326|PMID:19124645|PMID:19582488|PMID:20930055|PMID:21255467|PMID:22038540|PMID:22434358|PMID:22949514|PMID:24362817|PMID:24728327|PMID:24740647|PMID:24933152|PMID:25631985|PMID:25741868|PMID:26073604|PMID:28492532|PMID:29409008|PMID:29517885|PMID:34747535 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0080799 sinonasal undifferentiated carcinoma ISO RGD:1318721 D RGD:9068941 20210625 RGD PMID:30120966|REF_RGD_ID:127285653 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1318721 D RGD:9068941 20220414 RGD DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) PMID:28365909|REF_RGD_ID:151708708 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1059 intellectual disability ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1826 epilepsy ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1909 melanoma ISO RGD:1318721 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:1925 Coffin-Siris syndrome ISO RGD:1318721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:10521299|PMID:16199547|PMID:21108436|PMID:21208904|PMID:24933152|PMID:28492532 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1318721 D RGD:7240710 20240320 OMIM 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1318721 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical PMID:10521299|PMID:10739763|PMID:12226744|PMID:17576681|PMID:18414213|PMID:19124645|PMID:21108436|PMID:21208904|PMID:24123847|PMID:24728327|PMID:25741868|PMID:27380723|PMID:28492532|PMID:28873162|PMID:29617669|PMID:34308366|PMID:9536098|PMID:9671307|PMID:9892189 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:2394 ovarian cancer ISO RGD:1318721 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3192 neurilemmoma ISO RGD:1318721 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Schwannoma PMID:18647326|PMID:22434358|PMID:22949514|PMID:24933152|PMID:25631985|PMID:25741868|PMID:28492532|PMID:29517885|PMID:34747535 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3204 schwannomatosis ISO RGD:1318721 D RGD:8554872 20231024 ClinVar ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis PMID:10521299|PMID:18647326|PMID:21208904|PMID:22434358|PMID:25741868|PMID:28492532 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3565 meningioma ISO RGD:1318721 D RGD:9068941 20230128 RGD DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) PMID:22038540|REF_RGD_ID:155804288 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3672 rhabdoid cancer ISO RGD:1318721 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25009291|PMID:26343384 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3672 rhabdoid cancer ISO RGD:1318721 D RGD:9068941 20200609 RGD DNA:nonsense mutation, deletions, insertions:multiple (human) PMID:9671307|REF_RGD_ID:1599055 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:3672 rhabdoid cancer ISO RGD:1318721 D RGD:9068941 20230128 RGD protein:decreased expression:brain, kidney, soft tissue: PMID:16528370|REF_RGD_ID:155804291 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1318721 D RGD:9068941 20230128 RGD mRNA,protein:decreased expression:kidney: PMID:29218250|REF_RGD_ID:155804290 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:5119 ovarian cyst susceptibility ISO RGD:11485 D RGD:9068941 20230128 RGD PMID:29684361|REF_RGD_ID:155804292 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:5419 schizophrenia ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:5485 synovial sarcoma ISO RGD:1318721 D RGD:9068941 20210625 RGD PMID:26520417|REF_RGD_ID:11069485 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:6193 epithelioid sarcoma ISO RGD:1318721 D RGD:9068941 20230128 RGD protein:decreased expression:epithelial cell: PMID:19033866|REF_RGD_ID:155804293 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:630 genetic disease ISO RGD:1318721 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18285426|PMID:22726846|PMID:23906836|PMID:25741868|PMID:26364901|PMID:28120103|PMID:28492532|PMID:31273213 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1318721 D RGD:9068941 20210625 RGD mRNA:decreased expression:liver PMID:27111394|REF_RGD_ID:127285647 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9001988 Rhabdoid Tumor Predisposition Syndrome 2 ISO RGD:1318721 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 PMID:25741868|PMID:28492532 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10521299|PMID:11161377|PMID:15769941|PMID:17576681|PMID:18285426|PMID:18414213|PMID:18647326|PMID:18676838|PMID:21108436|PMID:21208904|PMID:22426308|PMID:22434358|PMID:22949514|PMID:23196062|PMID:23637025|PMID:24728327|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25462860|PMID:25741868|PMID:25981829|PMID:26073604|PMID:26987750|PMID:27380723|PMID:28177878|PMID:28365909|PMID:28492532|PMID:28873162|PMID:29230670|PMID:29617669|PMID:29706634|PMID:34308366|PMID:9536098|PMID:9892189 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318721 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10521299|PMID:11161377|PMID:12892231|PMID:15769941|PMID:17357086|PMID:17576681|PMID:18285426|PMID:18414213|PMID:18647326|PMID:18676838|PMID:21108436|PMID:21208904|PMID:21255467|PMID:22426308|PMID:22434358|PMID:22949514|PMID:23196062|PMID:23637025|PMID:24362817|PMID:24728327|PMID:24740647|PMID:24933152|PMID:24993163|PMID:25168959|PMID:25169651|PMID:25462860|PMID:25631985|PMID:25741868|PMID:25981829|PMID:26073604|PMID:26987750|PMID:27380723|PMID:28177878|PMID:28365909|PMID:28492532|PMID:28873162|PMID:29230670|PMID:29409008|PMID:29517885|PMID:29617669|PMID:29641532|PMID:29706634|PMID:32218533|PMID:34308366|PMID:34747535|PMID:9536098|PMID:9892189 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of the central nervous system PMID:25741868 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1318721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 8929325 Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 gene DOID:9008582 Developmental Disease ISO RGD:1318721 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:10521299|PMID:21208904|PMID:25741868|PMID:28492532 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868|PMID:28492532 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060825 Christianson syndrome ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:25741868 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:0112055 non-syndromic X-linked intellectual disability 46 ISO RGD:1343816 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked 46 PMID:11017088|PMID:18414213|PMID:25741868|PMID:28492532 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:1059 intellectual disability ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:1059 intellectual disability susceptibility ISO RGD:1343816 D RGD:9068941 20200609 RGD PMID:11017088|REF_RGD_ID:1599214 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:12849 autistic disorder ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:630 genetic disease ISO RGD:1343816 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9002704 Leukoencephalopathies ISO RGD:1343816 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:25741868 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1343816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343816 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: ARHGEF6-associated Neurodevelopmental disorder | ClinVar Annotator: match by term: ARHGEF6-related condition PMID:25741868 8929342 Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1343816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 8929377 Wdr35 WD repeat domain 35 gene DOID:0050577 cranioectodermal dysplasia ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome PMID:22486404|PMID:24033266|PMID:25741868|PMID:25914204|PMID:28332779|PMID:28492532|PMID:29068549 8929377 Wdr35 WD repeat domain 35 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:22486404|PMID:24033266|PMID:25741868|PMID:25914204|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:29068549 8929377 Wdr35 WD repeat domain 35 gene DOID:0070299 multiple epiphyseal dysplasia 5 ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY PMID:25741868|PMID:28492532 8929377 Wdr35 WD repeat domain 35 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1315220 D RGD:7240710 20180130 OMIM 8929377 Wdr35 WD repeat domain 35 gene DOID:0080804 cranioectodermal dysplasia 2 ISO RGD:1315220 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 PMID:16199547|PMID:17576681|PMID:20817137|PMID:21473986|PMID:22486404|PMID:22987818|PMID:24027799|PMID:24033266|PMID:24123776|PMID:25326635|PMID:25741868|PMID:25908617|PMID:25914204|PMID:26691894|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:28870638|PMID:29068549|PMID:31785789|PMID:33369054|PMID:33606107|PMID:34421506|PMID:9536098 8929377 Wdr35 WD repeat domain 35 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1315220 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:22486404|PMID:24033266|PMID:25741868|PMID:25914204|PMID:28332779|PMID:28492532|PMID:29068549 8929377 Wdr35 WD repeat domain 35 gene DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ISO RGD:1315220 D RGD:7240710 20180130 OMIM 8929377 Wdr35 WD repeat domain 35 gene DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly ISO RGD:1315220 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly PMID:17935248|PMID:21473986|PMID:22486404|PMID:24033266|PMID:25741868|PMID:25908617|PMID:25914204|PMID:27158779|PMID:28332779|PMID:28400947|PMID:28492532|PMID:28870638|PMID:29068549|PMID:31785789 8929377 Wdr35 WD repeat domain 35 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:25741868|PMID:28492532|PMID:28870638|PMID:29068549 8929377 Wdr35 WD repeat domain 35 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1315220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532 8929377 Wdr35 WD repeat domain 35 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant PMID:25741868|PMID:28492532 8929377 Wdr35 WD repeat domain 35 gene DOID:2340 craniosynostosis ISO RGD:1315220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20817137 8929377 Wdr35 WD repeat domain 35 gene DOID:5082 liver cirrhosis ISO RGD:1564116 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:18472094|REF_RGD_ID:11553927 8929377 Wdr35 WD repeat domain 35 gene DOID:630 genetic disease ISO RGD:1315220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24123776|PMID:25326635|PMID:25741868|PMID:28492532 8929377 Wdr35 WD repeat domain 35 gene DOID:65 connective tissue disease ISO RGD:1315220 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532|PMID:29068549 8929377 Wdr35 WD repeat domain 35 gene DOID:9003056 Short-Rib Thoracic Dysplasia 20 with Polydactyly ISO RGD:1315220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic PMID:25741868|PMID:27158779|PMID:28400947|PMID:29068549 8929377 Wdr35 WD repeat domain 35 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1564116 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:20224876|REF_RGD_ID:11553923 8929413 Fam124a family with sequence similarity 124 member A gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1602826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8929413 Fam124a family with sequence similarity 124 member A gene DOID:1059 intellectual disability ISO RGD:1602826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8929413 Fam124a family with sequence similarity 124 member A gene DOID:630 genetic disease ISO RGD:1602826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929413 Fam124a family with sequence similarity 124 member A gene DOID:893 Wilson disease ISO RGD:1602826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 8929422 Rps6kc1 ribosomal protein S6 kinase C1 gene DOID:10283 prostate cancer ISO RGD:1315275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8929422 Rps6kc1 ribosomal protein S6 kinase C1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8929422 Rps6kc1 ribosomal protein S6 kinase C1 gene DOID:630 genetic disease ISO RGD:1315275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8929422 Rps6kc1 ribosomal protein S6 kinase C1 gene DOID:9008086 Developmental Disabilities ISO RGD:1315275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8929422 Rps6kc1 ribosomal protein S6 kinase C1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8929451 Mbd3 methyl-CpG binding domain protein 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8929451 Mbd3 methyl-CpG binding domain protein 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1316562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8929451 Mbd3 methyl-CpG binding domain protein 3 gene DOID:11832 visual epilepsy ISO RGD:1307389 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12123686|REF_RGD_ID:9587847 8929451 Mbd3 methyl-CpG binding domain protein 3 gene DOID:12849 autistic disorder ISO RGD:1316562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921286 8929451 Mbd3 methyl-CpG binding domain protein 3 gene DOID:224 transient cerebral ischemia ISO RGD:1307389 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 8929451 Mbd3 methyl-CpG binding domain protein 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8929451 Mbd3 methyl-CpG binding domain protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1316316 D RGD:7240710 20180130 OMIM 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1316316 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:11169558|PMID:15475955|PMID:16199547|PMID:16411201|PMID:17576681|PMID:18548531|PMID:19763152|PMID:20307669|PMID:20516114|PMID:21190457|PMID:21520333|PMID:22406018|PMID:24033266|PMID:24728327|PMID:25502805|PMID:25640679|PMID:25741868|PMID:26822237|PMID:27239782|PMID:27331020|PMID:28492532|PMID:28591191|PMID:28767289|PMID:28976722|PMID:29625052|PMID:30512160|PMID:30716324|PMID:31053147|PMID:31738183|PMID:32884756|PMID:36451132|PMID:9521327|PMID:9536098|PMID:9916837 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080600 COVID-19 ISO RGD:1316316 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080641 tongue carcinoma ISO RGD:1316316 D RGD:9068941 20200609 RGD associated with oral squamous cell carcinoma; protein:increased expression: oral mucosa squamous cell, cervical lymph node (human) PMID:20204288|REF_RGD_ID:27372889 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1316316 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome PMID:24728327|PMID:25741868|PMID:28492532 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:10907 microcephaly ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:1520 colon carcinoma ISO RGD:1316316 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:24728327|PMID:25741868|PMID:28492532|PMID:9521327 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:1793 pancreatic cancer ISO RGD:1316316 D RGD:9068941 20200609 RGD protein:altered localization:pancreas PMID:17242465|REF_RGD_ID:2326105 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:1969 cerebral palsy ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:2394 ovarian cancer ISO RGD:1316316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:2717 Bloom syndrome ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:3121 gallbladder cancer ISO RGD:1316316 D RGD:9068941 20200609 RGD mRNA:increased expression:gallbladder PMID:18497548|REF_RGD_ID:2324871 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15475955 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18691855 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:630 genetic disease ISO RGD:1316316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20516114|PMID:24728327|PMID:25502805|PMID:25741868|PMID:28492532|PMID:28591191|PMID:9536098 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:684 hepatocellular carcinoma ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:767 muscular atrophy ISO RGD:1316317 D RGD:9068941 20200609 RGD PMID:23792145|REF_RGD_ID:10059412 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9001721 Warburton Anyane Yeboa Syndrome ISO RGD:1316316 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Warburton-Anyane-Yeboa syndrome PMID:25741868|PMID:28492532 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9006257 Growth Disorders ISO RGD:1316316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15475955 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9007183 Premature Chromatid Separation Trait ISO RGD:1316316 D RGD:7240710 20180130 OMIM 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9007183 Premature Chromatid Separation Trait ISO RGD:1316316 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Premature chromatid separation trait PMID:11169558|PMID:15475955|PMID:16411201|PMID:18548531|PMID:20516114|PMID:21190457|PMID:25502805|PMID:25741868|PMID:28492532|PMID:28767289|PMID:29625052|PMID:30512160|PMID:31738183|PMID:32884756|PMID:36451132|PMID:9916837 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316316 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9008692 Aneuploidy susceptibility ISO RGD:1316316 D RGD:9068941 20200609 RGD DNA:missense mutation: ; mosaic variegated aneuploidy syndrome, OMIM:257300 PMID:15475955|REF_RGD_ID:1600540 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9256 colorectal cancer ISO RGD:1316316 D RGD:7240710 20200226 OMIM 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9256 colorectal cancer ISO RGD:1316316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:17576681|PMID:20516114|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098 8929461 Bub1b BUB1 mitotic checkpoint serine/threonine kinase B gene DOID:9256 colorectal cancer ISO RGD:1316316 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 8929512 Shc1 SHC adaptor protein 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8929512 Shc1 SHC adaptor protein 1 gene DOID:0050851 glomerulosclerosis ameliorates ISO RGD:620446 D RGD:9068941 20210409 RGD PMID:27270176|REF_RGD_ID:12792230 8929512 Shc1 SHC adaptor protein 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1346921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8929512 Shc1 SHC adaptor protein 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8929512 Shc1 SHC adaptor protein 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8929512 Shc1 SHC adaptor protein 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8929512 Shc1 SHC adaptor protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551749 D RGD:9068941 20200609 RGD protein:increased phosphorylation:neuron PMID:15837797|REF_RGD_ID:1643185 8929512 Shc1 SHC adaptor protein 1 gene DOID:1168 familial hyperlipidemia ISO RGD:620446 D RGD:9068941 20200609 RGD PMID:15044008|REF_RGD_ID:1643177 8929512 Shc1 SHC adaptor protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8929512 Shc1 SHC adaptor protein 1 gene DOID:4195 hyperglycemia susceptibility ISO RGD:1551749 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:17360381|REF_RGD_ID:1643173 8929512 Shc1 SHC adaptor protein 1 gene DOID:5082 liver cirrhosis ISO RGD:1346921 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32659284 8929512 Shc1 SHC adaptor protein 1 gene DOID:5812 MHC class II deficiency ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8929512 Shc1 SHC adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1346921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929512 Shc1 SHC adaptor protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:620446 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:hepatocyte PMID:15375560|REF_RGD_ID:1643188 8929512 Shc1 SHC adaptor protein 1 gene DOID:9001542 Albuminuria ameliorates ISO RGD:620446 D RGD:9068941 20210409 RGD PMID:27270176|REF_RGD_ID:12792230 8929512 Shc1 SHC adaptor protein 1 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:620446 D RGD:9068941 20200609 RGD PMID:27270176|REF_RGD_ID:12792230 8929512 Shc1 SHC adaptor protein 1 gene DOID:9003936 Cardiomegaly ISO RGD:1346921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19168439 8929512 Shc1 SHC adaptor protein 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1551749 D RGD:9068941 20200609 RGD PMID:15998704|REF_RGD_ID:1643176 8929512 Shc1 SHC adaptor protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346921 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:25231249|PMID:32659284 8929512 Shc1 SHC adaptor protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:1346921 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:17986714|REF_RGD_ID:1643171 8929512 Shc1 SHC adaptor protein 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:620446 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:hepatocyte PMID:15375560|REF_RGD_ID:1643188 8929512 Shc1 SHC adaptor protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346921 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 8929512 Shc1 SHC adaptor protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8929512 Shc1 SHC adaptor protein 1 gene DOID:9452 steatotic liver disease ISO RGD:1346921 D RGD:9068941 20200609 RGD associated with Obesity PMID:17596878|REF_RGD_ID:1642523 8929542 Dph7 diphthamide biosynthesis 7 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8929542 Dph7 diphthamide biosynthesis 7 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1312556 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8929542 Dph7 diphthamide biosynthesis 7 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8929542 Dph7 diphthamide biosynthesis 7 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1312556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8929542 Dph7 diphthamide biosynthesis 7 gene DOID:0081097 Rafiq syndrome ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8929542 Dph7 diphthamide biosynthesis 7 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1312556 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8929542 Dph7 diphthamide biosynthesis 7 gene DOID:10283 prostate cancer ISO RGD:1312556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8929542 Dph7 diphthamide biosynthesis 7 gene DOID:1826 epilepsy ISO RGD:1312556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8929542 Dph7 diphthamide biosynthesis 7 gene DOID:630 genetic disease ISO RGD:1312556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929542 Dph7 diphthamide biosynthesis 7 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1312556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8929571 Endou endonuclease, poly(U) specific gene DOID:630 genetic disease ISO RGD:1604059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929586 Yy1 YY1 transcription factor gene DOID:1059 intellectual disability ISO RGD:736235 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8929586 Yy1 YY1 transcription factor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11500 D RGD:9068941 20200609 RGD PMID:12754214|REF_RGD_ID:1580831 8929586 Yy1 YY1 transcription factor gene DOID:14566 disease of cellular proliferation ISO RGD:736235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22467534 8929586 Yy1 YY1 transcription factor gene DOID:4769 pleuropulmonary blastoma ISO RGD:11500 D RGD:9068941 20220825 MouseDO OMIM:601200 8929586 Yy1 YY1 transcription factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:736235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8929586 Yy1 YY1 transcription factor gene DOID:6000 congestive heart failure ISO RGD:736235 D RGD:9068941 20200609 RGD PMID:12754214|REF_RGD_ID:1580831 8929586 Yy1 YY1 transcription factor gene DOID:630 genetic disease ISO RGD:736235 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28575647 8929586 Yy1 YY1 transcription factor gene DOID:9000918 Disease Progression ISO RGD:736235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21792014 8929586 Yy1 YY1 transcription factor gene DOID:9001966 GABRIELE-DE VRIES SYNDROME ISO RGD:736235 D RGD:7240710 20190315 OMIM 8929586 Yy1 YY1 transcription factor gene DOID:9001966 GABRIELE-DE VRIES SYNDROME ISO RGD:736235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gabriele de Vries syndrome PMID:21076407|PMID:25741868|PMID:28575647 8929586 Yy1 YY1 transcription factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:736235 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35445903 8929586 Yy1 YY1 transcription factor gene DOID:9002514 Neointima treatment ISO RGD:3982 D RGD:9068941 20200609 RGD PMID:21030713|REF_RGD_ID:9588268 8929586 Yy1 YY1 transcription factor gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21792014 8929586 Yy1 YY1 transcription factor gene DOID:9003936 Cardiomegaly ISO RGD:3982 D RGD:9068941 20200609 RGD PMID:15567155|REF_RGD_ID:1580832 8929586 Yy1 YY1 transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736235 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8929586 Yy1 YY1 transcription factor gene DOID:9538 multiple myeloma ISO RGD:736235 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 8929586 Yy1 YY1 transcription factor gene DOID:9744 type 1 diabetes mellitus ISO RGD:3982 D RGD:9068941 20200609 RGD DNA:SNPs:intron PMID:15234341|REF_RGD_ID:9588271 8929586 Yy1 YY1 transcription factor gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:3982 D RGD:9068941 20200609 RGD PMID:15619288|REF_RGD_ID:9588274 8929594 Spx spexin hormone gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1606773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 8929594 Spx spexin hormone gene DOID:630 genetic disease ISO RGD:1606773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929604 Jag2 jagged canonical Notch ligand 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:733495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8929604 Jag2 jagged canonical Notch ligand 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:733495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8929604 Jag2 jagged canonical Notch ligand 2 gene DOID:11193 syndactyly ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9531541 8929604 Jag2 jagged canonical Notch ligand 2 gene DOID:3068 glioblastoma ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8929604 Jag2 jagged canonical Notch ligand 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20038814 8929604 Jag2 jagged canonical Notch ligand 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 8929604 Jag2 jagged canonical Notch ligand 2 gene DOID:630 genetic disease ISO RGD:733495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929604 Jag2 jagged canonical Notch ligand 2 gene DOID:9005234 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 ISO RGD:733495 D RGD:7240710 20211110 OMIM 8929604 Jag2 jagged canonical Notch ligand 2 gene DOID:9005234 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 ISO RGD:733495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 27 PMID:25741868|PMID:28492532|PMID:33861953 8929604 Jag2 jagged canonical Notch ligand 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9531541 8929604 Jag2 jagged canonical Notch ligand 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 8929632 Prss27 serine protease 27 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8929632 Prss27 serine protease 27 gene DOID:1826 epilepsy ISO RGD:1353298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8929632 Prss27 serine protease 27 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353298 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8929632 Prss27 serine protease 27 gene DOID:630 genetic disease ISO RGD:1353298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929664 Rab3a RAB3A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:735498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929664 Rab3a RAB3A, member RAS oncogene family gene DOID:9005834 Ependymomas ISO RGD:735498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 8929664 Rab3a RAB3A, member RAS oncogene family gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:735498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8929673 Txndc2 thioredoxin domain containing 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8929673 Txndc2 thioredoxin domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1352753 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8929673 Txndc2 thioredoxin domain containing 2 gene DOID:543 dystonia ISO RGD:1352753 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8929673 Txndc2 thioredoxin domain containing 2 gene DOID:630 genetic disease ISO RGD:1352753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929684 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0060369 Parkinson's disease 6 ISO RGD:1319052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:25741868|PMID:28492532 8929684 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1319052 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8929684 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1319052 D RGD:7240710 20180130 OMIM 8929684 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1319052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:16199547|PMID:17576681|PMID:22305527|PMID:25741868|PMID:28492532|PMID:34462534|PMID:9536098 8929684 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:1059 intellectual disability ISO RGD:1319052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8929684 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:14330 Parkinson's disease ISO RGD:1319052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive PMID:25741868|PMID:28492532 8929684 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 8929684 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1319052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8929684 Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1319052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8929704 Rhbdf2 rhomboid 5 homolog 2 gene DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome ISO RGD:1320182 D RGD:7240710 20180130 OMIM 8929704 Rhbdf2 rhomboid 5 homolog 2 gene DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome ISO RGD:1320182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome PMID:13209063|PMID:22265016|PMID:22638770|PMID:25741868|PMID:28492532|PMID:8508402 8929704 Rhbdf2 rhomboid 5 homolog 2 gene DOID:630 genetic disease ISO RGD:1320182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8929704 Rhbdf2 rhomboid 5 homolog 2 gene DOID:687 hepatoblastoma ISO RGD:1320182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 8929737 Psap prosaposin gene DOID:0050439 Usher syndrome ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 8929737 Psap prosaposin gene DOID:0050439 Usher syndrome ISO RGD:736284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:18429043|PMID:23794683|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 8929737 Psap prosaposin gene DOID:0060892 late onset Parkinson's disease ISO RGD:736284 D RGD:7240710 20240313 OMIM 8929737 Psap prosaposin gene DOID:0060892 late onset Parkinson's disease ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Parkinson disease 24, autosomal dominant, susceptibility to | ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:17576681|PMID:25741868|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:32201884|PMID:33402667|PMID:9536098 8929737 Psap prosaposin gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:28492532 8929737 Psap prosaposin gene DOID:0110826 Usher syndrome type 1 ISO RGD:736284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:18429043|PMID:23794683|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 8929737 Psap prosaposin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:736284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:18429043|PMID:23794683|PMID:24033266|PMID:25741868|PMID:28492532 8929737 Psap prosaposin gene DOID:0110831 Usher syndrome type 1D ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:18429043|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 8929737 Psap prosaposin gene DOID:0110831 Usher syndrome type 1D ISO RGD:736284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:18429043|PMID:23794683|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 8929737 Psap prosaposin gene DOID:0110961 atypical Gaucher's disease due to saposin C deficiency ISO RGD:736284 D RGD:7240710 20240313 OMIM 8929737 Psap prosaposin gene DOID:0110961 atypical Gaucher's disease due to saposin C deficiency ISO RGD:736284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency PMID:11309366|PMID:1371116|PMID:15856305|PMID:16199547|PMID:17576681|PMID:17616409|PMID:17919309|PMID:19267410|PMID:20484222|PMID:24033266|PMID:24925315|PMID:25741868|PMID:2615292|PMID:26822237|PMID:28457694|PMID:28492532|PMID:30632081|PMID:30976395|PMID:31319425|PMID:32180488|PMID:33219486|PMID:34649574|PMID:35456468|PMID:6256275|PMID:8460394|PMID:8554069|PMID:9536098 8929737 Psap prosaposin gene DOID:0111330 combined saposin deficiency ISO RGD:736284 D RGD:7240710 20240313 OMIM 8929737 Psap prosaposin gene DOID:0111330 combined saposin deficiency ISO RGD:736284 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:10196694|PMID:10682309|PMID:11309366|PMID:1350885|PMID:1371116|PMID:15773042|PMID:16199547|PMID:17561962|PMID:17576681|PMID:17616409|PMID:17919309|PMID:18429043|PMID:18693274|PMID:19267410|PMID:19955343|PMID:2019586|PMID:20484222|PMID:2302219|PMID:2320574|PMID:24033266|PMID:24416283|PMID:24925315|PMID:25640679|PMID:25741868|PMID:25991456|PMID:26462614|PMID:26822237|PMID:26831127|PMID:28457694|PMID:28492532|PMID:30037697|PMID:30632081|PMID:31319425|PMID:32180488|PMID:33402667|PMID:8554069|PMID:9536098 8929737 Psap prosaposin gene DOID:0111330 combined saposin deficiency ISO RGD:736284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COMBINED SAP DEFICIENCY | ClinVar Annotator: match by term: Combined saposin deficiency | ClinVar Annotator: match by term: Encephalopathy due to prosaposin deficiency | ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:10196694|PMID:10682309|PMID:11309366|PMID:1350885|PMID:1371116|PMID:15773042|PMID:16199547|PMID:17561962|PMID:17576681|PMID:17616409|PMID:17919309|PMID:18429043|PMID:18693274|PMID:19267410|PMID:19955343|PMID:2019586|PMID:20484222|PMID:2302219|PMID:2320574|PMID:23794683|PMID:24033266|PMID:24416283|PMID:24925315|PMID:25640679|PMID:25741868|PMID:25991456|PMID:26462614|PMID:26822237|PMID:26831127|PMID:28457694|PMID:28492532|PMID:30037697|PMID:30632081|PMID:30976395|PMID:31319425|PMID:32180488|PMID:33219486|PMID:33402667|PMID:35456468|PMID:8554069|PMID:9536098 8929737 Psap prosaposin gene DOID:10581 metachromatic leukodystrophy ISO RGD:736284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10196694|PMID:1371116|PMID:17576681|PMID:17616409|PMID:18429043|PMID:18693274|PMID:20484222|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:26462614|PMID:28492532|PMID:9536098 8929737 Psap prosaposin gene DOID:10581 metachromatic leukodystrophy ISO RGD:736284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild PMID:10196694|PMID:1371116|PMID:17576681|PMID:17616409|PMID:17919309|PMID:18429043|PMID:18693274|PMID:20484222|PMID:23794683|PMID:24033266|PMID:24416283|PMID:24925315|PMID:25741868|PMID:25991456|PMID:26462614|PMID:28492532|PMID:30632081|PMID:31319425|PMID:32180488|PMID:34649574|PMID:9536098 8929737 Psap prosaposin gene DOID:10581 metachromatic leukodystrophy ISO RGD:736284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10196694|PMID:1371116|PMID:17576681|PMID:17616409|PMID:17919309|PMID:18429043|PMID:18693274|PMID:20484222|PMID:23794683|PMID:24033266|PMID:24416283|PMID:24925315|PMID:25741868|PMID:25991456|PMID:26462614|PMID:28492532|PMID:30632081|PMID:30976395|PMID:31319425|PMID:32180488|PMID:34649574|PMID:35456468|PMID:9536098 8929737 Psap prosaposin gene DOID:10587 Krabbe disease ISO RGD:736284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell PMID:18429043|PMID:23794683|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 8929737 Psap prosaposin gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular PMID:24033266|PMID:25741868|PMID:28492532|PMID:30976395|PMID:35456468 8929737 Psap prosaposin gene DOID:630 genetic disease ISO RGD:736284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1350885|PMID:17576681|PMID:2302219|PMID:2320574|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30037697|PMID:31069529|PMID:31439510|PMID:9536098 8929737 Psap prosaposin gene DOID:9001061 Atypical Krabbe Disease due to Saposin A Deficiency ISO RGD:736284 D RGD:7240710 20240313 OMIM 8929737 Psap prosaposin gene DOID:9001061 Atypical Krabbe Disease due to Saposin A Deficiency ISO RGD:736284 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency PMID:15773042|PMID:17576681|PMID:25741868|PMID:26822237|PMID:28492532|PMID:29995202|PMID:30632081|PMID:31069529|PMID:31319425|PMID:31439510|PMID:32180488|PMID:33219486|PMID:9536098 8929737 Psap prosaposin gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:736284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:18429043|PMID:23794683|PMID:24033266|PMID:24416283|PMID:25741868|PMID:25991456|PMID:28492532 8929737 Psap prosaposin gene DOID:9004538 Hearing Loss ISO RGD:736284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18429043|PMID:23794683|PMID:24033266|PMID:25741868|PMID:28492532 8929737 Psap prosaposin gene DOID:9004615 Metachromatic Leukodystrophy due to Saposin B Deficiency ISO RGD:736284 D RGD:7240710 20240313 OMIM 8929737 Psap prosaposin gene DOID:9004615 Metachromatic Leukodystrophy due to Saposin B Deficiency ISO RGD:736284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency | ClinVar Annotator: match by term: Saposin B Deficiency PMID:10196694|PMID:10682309|PMID:11309366|PMID:1371116|PMID:15773042|PMID:16199547|PMID:17561962|PMID:17576681|PMID:17616409|PMID:18693274|PMID:19267410|PMID:19955343|PMID:2019586|PMID:20484222|PMID:24033266|PMID:25741868|PMID:26462614|PMID:26822237|PMID:28457694|PMID:28492532|PMID:30632081|PMID:30976395|PMID:31319425|PMID:32180488|PMID:33219486|PMID:35456468|PMID:8554069|PMID:9536098 8929758 ASPN asporin gene DOID:8398 osteoarthritis ISO RGD:1345823 D RGD:9068941 20240321 CTD CTD Direct Evidence: marker/mechanism 8929758 ASPN asporin gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1345823 D RGD:9068941 20240321 CTD CTD Direct Evidence: marker/mechanism 8929758 ASPN asporin gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345823 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage: PMID:15640800|REF_RGD_ID:9684965 8929758 Aspn asporin gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1345823 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 8929758 Aspn asporin gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1345823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 8929758 Aspn asporin gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1345823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 8929758 Aspn asporin gene DOID:630 genetic disease ISO RGD:1345823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929758 Aspn asporin gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:20144272|REF_RGD_ID:9684964 8929758 Aspn asporin gene DOID:8398 osteoarthritis no_association ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:16542493|REF_RGD_ID:9684966 8929758 Aspn asporin gene DOID:8398 osteoarthritis susceptibility ISO RGD:1345823 D RGD:7240710 20240320 OMIM 8929758 Aspn asporin gene DOID:90 degenerative disc disease severity ISO RGD:1345823 D RGD:9068941 20200609 RGD mRNA:increased expression:intervertebral disk: PMID:19327154|REF_RGD_ID:9684961 8929758 Aspn asporin gene DOID:90 degenerative disc disease susceptibility ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:18304494|REF_RGD_ID:9684970 8929758 Aspn asporin gene DOID:9000058 Keloid ISO RGD:1345823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8929758 Aspn asporin gene DOID:9000585 Intervertebral Disc Disease susceptibility ISO RGD:1345823 D RGD:7240710 20240320 OMIM 8929758 Aspn asporin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8929758 Aspn asporin gene DOID:9002331 Knee Osteoarthritis ISO RGD:1345823 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage: PMID:15640800|REF_RGD_ID:9684965 8929758 Aspn asporin gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:15640800|REF_RGD_ID:9684965 8929758 Aspn asporin gene DOID:9007078 Hip Dislocation susceptibility ISO RGD:1345823 D RGD:9068941 20200609 RGD DNA:repeats:exon: PMID:21329514|REF_RGD_ID:9684968 8929770 Ddx21 DExD-box helicase 21 gene DOID:630 genetic disease ISO RGD:1312763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929795 Usp30 ubiquitin specific peptidase 30 gene DOID:630 genetic disease ISO RGD:1317441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929837 Hmgb3 high mobility group box 3 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1350742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 8929837 Hmgb3 high mobility group box 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8929837 Hmgb3 high mobility group box 3 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1350742 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 8929837 Hmgb3 high mobility group box 3 gene DOID:0111811 syndromic microphthalmia 13 ISO RGD:1350742 D RGD:7240710 20180130 OMIM 8929837 Hmgb3 high mobility group box 3 gene DOID:11054 urinary bladder cancer ISO RGD:1350742 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30639441 8929837 Hmgb3 high mobility group box 3 gene DOID:12849 autistic disorder ISO RGD:1350742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8929837 Hmgb3 high mobility group box 3 gene DOID:630 genetic disease ISO RGD:1350742 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8929852 Camlg calcium modulating ligand gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347931 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8929852 Camlg calcium modulating ligand gene DOID:630 genetic disease ISO RGD:1347931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929852 Camlg calcium modulating ligand gene DOID:8692 myeloid leukemia ISO RGD:1347931 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:12031912|REF_RGD_ID:2316229 8929852 Camlg calcium modulating ligand gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8929852 Camlg calcium modulating ligand gene DOID:9004511 Congenital Disorder of Glycosylation Type IIz ISO RGD:1347931 D RGD:7240710 20230125 OMIM 8929852 Camlg calcium modulating ligand gene DOID:9004511 Congenital Disorder of Glycosylation Type IIz ISO RGD:1347931 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIz PMID:35262690 8929852 Camlg calcium modulating ligand gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347931 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8929860 Ide insulin degrading enzyme gene DOID:0050850 diabetic encephalopathy ISO RGD:732801 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:27306699|REF_RGD_ID:13792796 8929860 Ide insulin degrading enzyme gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:2861 D RGD:9068941 20200609 RGD PMID:26576191|REF_RGD_ID:13792804 8929860 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 8929860 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732801 D RGD:9068941 20200609 RGD PMID:28164769|REF_RGD_ID:13792824 8929860 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732801 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:26963025|REF_RGD_ID:13792798 8929860 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease ISO RGD:732802 D RGD:9068941 20200609 RGD PMID:12634421|REF_RGD_ID:737718 8929860 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment ISO RGD:2861 D RGD:9068941 20200609 RGD PMID:28157092|PMID:28553348|PMID:29948724|REF_RGD_ID:13792792|REF_RGD_ID:13792800|REF_RGD_ID:13792829 8929860 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment ISO RGD:2861 D RGD:9068941 20200609 RGD associated with Insulin Resistance PMID:28447730|REF_RGD_ID:13792793 8929860 Ide insulin degrading enzyme gene DOID:10652 Alzheimer's disease treatment ISO RGD:732802 D RGD:9068941 20200609 RGD PMID:30224067|REF_RGD_ID:13792790 8929860 Ide insulin degrading enzyme gene DOID:630 genetic disease ISO RGD:732801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929860 Ide insulin degrading enzyme gene DOID:9002775 Cognitive Dysfunction treatment ISO RGD:732802 D RGD:9068941 20200609 RGD associated with obesity PMID:27102787|REF_RGD_ID:13792826 8929860 Ide insulin degrading enzyme gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2861 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:29940507|REF_RGD_ID:13792791 8929860 Ide insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus ISO RGD:2861 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:exon:p.H18R, p.A890V (rat) PMID:10958757|REF_RGD_ID:737717 8929860 Ide insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus ISO RGD:732801 D RGD:9068941 20200609 RGD DNA:haplotype::CC haplotype of SNPs rs2209972 and rs1887922 in men of European descent from the Framingham Heart Study PMID:12765971|REF_RGD_ID:1626697 8929860 Ide insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus ISO RGD:732802 D RGD:9068941 20200609 RGD PMID:12634421|REF_RGD_ID:737718 8929860 Ide insulin degrading enzyme gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:732801 D RGD:9068941 20200609 RGD DNA:SNP,haplotype::no association with 21 single-marker SNPs or with 13 multi-marker haplotypes in 4206 individuals from Scandinavia and Canada PMID:16380485|REF_RGD_ID:1626698 8929889 Stim2 stromal interaction molecule 2 gene DOID:630 genetic disease ISO RGD:1312198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929889 Stim2 stromal interaction molecule 2 gene DOID:9004657 Weight Gain ISO RGD:1312198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8929905 Unc119b unc-119 lipid binding chaperone B gene DOID:630 genetic disease ISO RGD:1345863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929914 Cpne3 copine 3 gene DOID:630 genetic disease ISO RGD:1320926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929914 Cpne3 copine 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20868653 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:1936 atherosclerosis treatment ISO RGD:735763 D RGD:9068941 20221117 RGD PMID:30909142|REF_RGD_ID:155663380 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:264 hemangiopericytoma ISO RGD:735762 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:3068 glioblastoma ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:3069 malignant astrocytoma ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:3181 oligodendroglioma ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735763 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:5199 ureteral obstruction ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:5241 hemangioblastoma ISO RGD:735762 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:temporal lobe : PMID:27388534|REF_RGD_ID:155641257 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:630 genetic disease ISO RGD:735762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:6432 pulmonary hypertension ISO RGD:735763 D RGD:9068941 20221110 RGD mRNA:decreased expression:lung: PMID:34739767|REF_RGD_ID:155646132 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621403 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9351 diabetes mellitus ISO RGD:621403 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 8929939 Hey1 hes related family bHLH transcription factor with YRPW motif 1 gene DOID:9351 diabetes mellitus ISO RGD:735763 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 8929949 Cd3g CD3g molecule gene DOID:0060017 CD3epsilon deficiency ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8929949 Cd3g CD3g molecule gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1317072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8929949 Cd3g CD3g molecule gene DOID:0080690 RASopathy ISO RGD:1317072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8929949 Cd3g CD3g molecule gene DOID:0081330 glycogen storage disease Ib ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8929949 Cd3g CD3g molecule gene DOID:0110651 long QT syndrome 10 ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8929949 Cd3g CD3g molecule gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8929949 Cd3g CD3g molecule gene DOID:0111971 immunodeficiency 18 ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8929949 Cd3g CD3g molecule gene DOID:0111972 immunodeficiency 19 ISO RGD:1317072 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8929949 Cd3g CD3g molecule gene DOID:0111973 immunodeficiency 17 ISO RGD:1317072 D RGD:7240710 20180130 OMIM 8929949 Cd3g CD3g molecule gene DOID:0111973 immunodeficiency 17 ISO RGD:1317072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient | ClinVar Annotator: match by term: Immunodeficiency due to defect in CD3-gamma PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:1709425|PMID:17277165|PMID:17576681|PMID:24033266|PMID:24216686|PMID:24910257|PMID:25373860|PMID:25741868|PMID:26822028|PMID:28492532|PMID:31921117|PMID:8490660|PMID:9536098 8929949 Cd3g CD3g molecule gene DOID:1059 intellectual disability ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8929949 Cd3g CD3g molecule gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:1635567|PMID:17277165|PMID:24910257|PMID:28492532|PMID:31921117 8929949 Cd3g CD3g molecule gene DOID:627 severe combined immunodeficiency ISO RGD:1317072 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:1635567|PMID:17277165|PMID:24910257|PMID:28492532|PMID:31921117 8929949 Cd3g CD3g molecule gene DOID:630 genetic disease ISO RGD:1317072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8929949 Cd3g CD3g molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8929949 Cd3g CD3g molecule gene DOID:9007661 Dwarfism ISO RGD:1317072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8929972 Znf707 zinc finger protein 707 gene DOID:630 genetic disease ISO RGD:1603343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930000 Syngr3 synaptogyrin 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1323444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8930000 Syngr3 synaptogyrin 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1323444 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8930000 Syngr3 synaptogyrin 3 gene DOID:1826 epilepsy ISO RGD:1323444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8930000 Syngr3 synaptogyrin 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1323444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8930000 Syngr3 synaptogyrin 3 gene DOID:630 genetic disease ISO RGD:1323444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930008 Vill villin like gene DOID:0050451 Brugada syndrome ISO RGD:1347824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 8930008 Vill villin like gene DOID:630 genetic disease ISO RGD:1347824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930008 Vill villin like gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1347824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8930060 Atg14 autophagy related 14 gene DOID:630 genetic disease ISO RGD:1312148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930079 Spon2 spondin 2 gene DOID:1856 cherubism ISO RGD:1352786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8930079 Spon2 spondin 2 gene DOID:630 genetic disease ISO RGD:1352786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930079 Spon2 spondin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8930079 Spon2 spondin 2 gene DOID:9002514 Neointima ISO RGD:708584 D RGD:9068941 20230427 RGD PMID:25751394|REF_RGD_ID:329328927 8930079 Spon2 spondin 2 gene DOID:9002514 Neointima ISO RGD:731918 D RGD:9068941 20230427 RGD PMID:25751394|REF_RGD_ID:329328927 8930079 Spon2 spondin 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:731918 D RGD:9068941 20230427 RGD protein:decreased expression:vascular smooth muscle cell carotid artery (mouse) PMID:25751394|REF_RGD_ID:329328927 8930089 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1348132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8930089 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8930089 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1348132 D RGD:7240710 20180130 OMIM 8930089 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1348132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:17576681|PMID:19377476|PMID:22796527|PMID:24357419|PMID:24811172|PMID:25649377|PMID:25741868|PMID:28492532|PMID:28687527|PMID:29681091|PMID:9536098 8930089 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1348132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:22965764|PMID:28492532 8930089 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:1059 intellectual disability ISO RGD:1348132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17436253|PMID:24811172|PMID:25741868|PMID:28492532|PMID:29681091 8930089 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:12849 autistic disorder ISO RGD:1348132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8930089 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:630 genetic disease ISO RGD:1348132 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24357419|PMID:25741868|PMID:28492532 8930089 Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348132 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8930109 Cited1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8930109 Cited1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:12849 autistic disorder ISO RGD:1344879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8930109 Cited1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:630 genetic disease ISO RGD:1344879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930109 Cited1 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734446 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 8930116 Tgm3 transglutaminase 3 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343492 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8930116 Tgm3 transglutaminase 3 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8930116 Tgm3 transglutaminase 3 gene DOID:630 genetic disease ISO RGD:1343492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930116 Tgm3 transglutaminase 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1343492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8930116 Tgm3 transglutaminase 3 gene DOID:9001368 Uncombable Hair Syndrome 2 ISO RGD:1343492 D RGD:7240710 20190315 OMIM 8930116 Tgm3 transglutaminase 3 gene DOID:9001368 Uncombable Hair Syndrome 2 ISO RGD:1343492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uncombable hair syndrome 2 PMID:24183230|PMID:27866708 8930116 Tgm3 transglutaminase 3 gene DOID:9005997 Uncombable Hair Syndrome ISO RGD:1343492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8930133 Lrrc55 leucine rich repeat containing 55 gene DOID:1059 intellectual disability ISO RGD:1603880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8930133 Lrrc55 leucine rich repeat containing 55 gene DOID:630 genetic disease ISO RGD:1603880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:17173049|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310|PMID:25356970|PMID:25741868|PMID:29719671|PMID:30763456 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:732251 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0070091 schizophrenia 15 ISO RGD:732251 D RGD:7240710 20180130 OMIM 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0070091 schizophrenia 15 ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED | ClinVar Annotator: match by term: SHANK3-Related Disorder | ClinVar Annotator: match by term: Schizophrenia 15 PMID:20385823|PMID:25188300|PMID:25741868|PMID:28135719|PMID:29719671|PMID:30763456 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:732251 D RGD:7240710 20180130 OMIM 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:732251 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome | ClinVar Annotator: match by term: SHANK3-related condition PMID:17173049|PMID:20301377|PMID:21062623|PMID:22892527|PMID:23758743|PMID:24033266|PMID:24759409|PMID:25188300|PMID:25356970|PMID:25724810|PMID:25741868|PMID:27554343|PMID:28135719|PMID:29719671|PMID:30537371|PMID:30763456|PMID:32015180|PMID:32382396 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:1059 intellectual disability ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:20385823|PMID:25167861|PMID:25188300|PMID:25741868|PMID:28135719|PMID:29719671|PMID:31690835|PMID:32581362 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:12849 autistic disorder ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:13938 amenorrhea ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:2468 psychotic disorder ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psychotic disorder PMID:24759409|PMID:25741868 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:2843 long QT syndrome ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:5419 schizophrenia ISO RGD:732251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:5419 schizophrenia ISO RGD:732252 D RGD:9068941 20220825 MouseDO OMIM:181500 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:630 genetic disease ISO RGD:732251 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11431708|PMID:11733747|PMID:12920066|PMID:15458844|PMID:16439662|PMID:17173049|PMID:17999366|PMID:18414213|PMID:18615476|PMID:20385823|PMID:21378602|PMID:22670140|PMID:22892527|PMID:23472757|PMID:23495017|PMID:23533028|PMID:24033266|PMID:25188300|PMID:25356970|PMID:25621899|PMID:25724810|PMID:25741868|PMID:26045941|PMID:26185613|PMID:26467025|PMID:26544041|PMID:27118998|PMID:27554343|PMID:28135719|PMID:28371232|PMID:29719671|PMID:30763456|PMID:32581362 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17173049|PMID:25356970|PMID:25741868|PMID:29719671|PMID:30763456 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9005466 Language Development Disorders ISO RGD:732251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284256|PMID:17173049 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32581362 8930147 Shank3 SH3 and multiple ankyrin repeat domains 3 gene DOID:9008165 Chromosome Deletion ISO RGD:732251 D RGD:9068941 20200609 RGD PMID:12920066|REF_RGD_ID:1599213 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1318014 D RGD:7240710 20180130 OMIM 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0050854 Muckle-Wells syndrome ISO RGD:1318014 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15593220|PMID:16100350|PMID:16255047|PMID:16646042|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21702021|PMID:22128899|PMID:22146561|PMID:22193915|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27191192|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29322034|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30407166|PMID:30431487|PMID:30808881|PMID:32082075|PMID:32199921|PMID:33329557|PMID:49161 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0060500 drug allergy ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19767079 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1318015 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0080270 autosomal dominant nonsyndromic deafness 34 ISO RGD:1318014 D RGD:7240710 20190315 OMIM 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0080270 autosomal dominant nonsyndromic deafness 34 ISO RGD:1318014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27612399|PMID:27994174|PMID:28492532|PMID:28692792|PMID:28847925|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:33329557|PMID:49161 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1318014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1318014 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0090029 CINCA syndrome ISO RGD:1318014 D RGD:7240710 20180808 OMIM 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0090029 CINCA syndrome ISO RGD:1318014 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar Annotator: match by term: Chronic Infantile Neurological Cutaneous Articular syndrome | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar Annotator: match by term: Prieur Griscelli syndrome PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15334500|PMID:15593220|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16449034|PMID:16871551|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17576681|PMID:18080732|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21702021|PMID:21810457|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25417688|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29163488|PMID:29239927|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30407166|PMID:30431487|PMID:30808881|PMID:31155445|PMID:31816408|PMID:32082075|PMID:32199921|PMID:33329557|PMID:49161|PMID:5173311|PMID:9536098 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0090061 familial cold autoinflammatory syndrome ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28492532|PMID:28692792|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:49161 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0090062 familial cold autoinflammatory syndrome 1 ISO RGD:1318014 D RGD:7240710 20180130 OMIM 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0090062 familial cold autoinflammatory syndrome 1 ISO RGD:1318014 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12483741|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15334500|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16449034|PMID:16646042|PMID:16802372|PMID:16871551|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17284928|PMID:17393462|PMID:17509468|PMID:17513575|PMID:18063752|PMID:18080732|PMID:18174231|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:20506209|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21637346|PMID:21702021|PMID:22128899|PMID:22146561|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27548431|PMID:27612399|PMID:27650144|PMID:27692610|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28501347|PMID:28692792|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29152264|PMID:29159471|PMID:29163488|PMID:29322034|PMID:29378952|PMID:29922587|PMID:29977033|PMID:29988644|PMID:30069026|PMID:30214525|PMID:30311386|PMID:30338413|PMID:30407166|PMID:30431487|PMID:30772614|PMID:30808881|PMID:31172726|PMID:31442672|PMID:32082075|PMID:32199921|PMID:32477355|PMID:33020839|PMID:33329557|PMID:34099780|PMID:35668534|PMID:447320|PMID:49161|PMID:5173311 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1318014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:12522564|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20182451|PMID:21245836|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22843550|PMID:22935299|PMID:24033266|PMID:24098386|PMID:24158955|PMID:24431285|PMID:24649046|PMID:25586466|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26273672|PMID:26467025|PMID:26535712|PMID:26848126|PMID:27036377|PMID:27060062|PMID:27819323|PMID:27943647|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29977033|PMID:30214525 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:10320 asbestosis ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:11396 pulmonary edema ISO RGD:1318014 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33012731 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:1308314 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1318014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:12522564|PMID:17509468|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20182451|PMID:21245836|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22843550|PMID:22935299|PMID:24033266|PMID:24098386|PMID:24158955|PMID:24431285|PMID:24649046|PMID:25586466|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26273672|PMID:26467025|PMID:26535712|PMID:26848126|PMID:27036377|PMID:27060062|PMID:27819323|PMID:27943647|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29977033|PMID:30214525 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:1555 urticaria susceptibility ISO RGD:1318014 D RGD:9068941 20200609 RGD familial cold autoinflammatory syndrome, OMIM:120100;DNA:missense mutations: :multiple PMID:11687797|REF_RGD_ID:1600862 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:1749 squamous cell carcinoma ISO RGD:1318014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:2280 hidradenitis suppurativa ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:2377 multiple sclerosis ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25458313 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:2723 dermatitis ISO RGD:1318014 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Dermatitis PMID:25741868 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1318014 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:11687797|PMID:11992256|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15593220|PMID:15801036|PMID:16100350|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17576681|PMID:18263599|PMID:18311798|PMID:19319132|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:22128899|PMID:22403613|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22843550|PMID:22935299|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24431285|PMID:24649046|PMID:24759409|PMID:25038238|PMID:25586466|PMID:25596455|PMID:25639832|PMID:25730877|PMID:25741868|PMID:25821352|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30311386|PMID:30407166|PMID:30772614|PMID:30808881|PMID:32082075|PMID:32199921|PMID:447320|PMID:49161|PMID:5173311|PMID:9536098 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1318015 D RGD:9068941 20200618 RGD PMID:32365944|REF_RGD_ID:30309207 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:3044 food allergy ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19767079 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:3345 xanthomatosis exacerbates ISO RGD:1318015 D RGD:9068941 20210514 RGD associated with atherosclerosis PMID:30354239|REF_RGD_ID:126925206 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:3602 toxic encephalopathy ISO RGD:1318014 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32014472 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1318014 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:557 kidney disease ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:11687797|PMID:11992256|PMID:12355493|PMID:12522564|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26218404|PMID:26467025|PMID:26531310|PMID:27994174|PMID:28492532|PMID:28692792|PMID:29159471|PMID:29922587|PMID:30407166|PMID:30808881|PMID:49161 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:5844 myocardial infarction ameliorates ISO RGD:1308314 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:630 genetic disease ISO RGD:1318014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21058222|PMID:21109514|PMID:24033266|PMID:25741868|PMID:26386126|PMID:28492532 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:6543 acne ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:8553 pyoderma gangrenosum ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:8778 Crohn's disease ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19098911 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9000972 Fever ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fever 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9004538 Hearing Loss ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:15593220|PMID:25741868|PMID:28492532|PMID:29922587|PMID:30311386 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9004610 Acute Lung Injury ISO RGD:1318014 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33012731 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9004866 Ataxia ISO RGD:1318014 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32014472 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9005372 Inflammation ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12032915|PMID:22325453 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9007278 Anaphylaxis ISO RGD:1318014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19767079 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9007692 Insulin Resistance ISO RGD:1318014 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9007956 Febrile Seizures treatment ISO RGD:1308314 D RGD:9068941 20200609 RGD PMID:30947016|REF_RGD_ID:25823138 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1318014 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35226250 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1318014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16255047|PMID:16802372|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17393462|PMID:17509468|PMID:17513575|PMID:17576681|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:22128899|PMID:22193915|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24326009|PMID:24431285|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25821352|PMID:25866490|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27612399|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28166811|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28692792|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29159471|PMID:29611406|PMID:29922587|PMID:29977033|PMID:30214525|PMID:30273710|PMID:30311386|PMID:30407166|PMID:30808881|PMID:31155445|PMID:32082075|PMID:32199921|PMID:33020839|PMID:33329557|PMID:49161|PMID:5173311|PMID:9536098 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes ISO RGD:1318014 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria PMID:11687797|PMID:11992256|PMID:12032915|PMID:12355493|PMID:12483741|PMID:12522564|PMID:14630794|PMID:14872505|PMID:15020601|PMID:15231984|PMID:15334500|PMID:15593220|PMID:15724022|PMID:15801036|PMID:16081838|PMID:16100350|PMID:16199547|PMID:16255047|PMID:16802372|PMID:16871551|PMID:16920754|PMID:17038455|PMID:17178739|PMID:17213252|PMID:17284928|PMID:17393462|PMID:17509468|PMID:17513575|PMID:17576681|PMID:18063752|PMID:18080732|PMID:18263599|PMID:18311798|PMID:19319132|PMID:19501000|PMID:20131254|PMID:20131270|PMID:20159265|PMID:20182451|PMID:20472245|PMID:21058222|PMID:21109514|PMID:21245836|PMID:21356079|PMID:21621776|PMID:21637346|PMID:21702021|PMID:22128899|PMID:22193915|PMID:22279087|PMID:22403613|PMID:22512814|PMID:22524199|PMID:22529966|PMID:22566169|PMID:22661645|PMID:22843550|PMID:22935299|PMID:23015306|PMID:23421920|PMID:23442610|PMID:23703389|PMID:24033266|PMID:24098386|PMID:24123366|PMID:24135410|PMID:24158955|PMID:24326009|PMID:24365011|PMID:24431285|PMID:24517500|PMID:24649046|PMID:24759409|PMID:24773462|PMID:25038238|PMID:25417688|PMID:25584041|PMID:25586466|PMID:25596455|PMID:25619352|PMID:25639832|PMID:25730877|PMID:25732894|PMID:25741868|PMID:25766347|PMID:25821352|PMID:25866490|PMID:25979514|PMID:26020059|PMID:26033552|PMID:26178285|PMID:26218404|PMID:26245507|PMID:26273672|PMID:26386126|PMID:26467025|PMID:26531310|PMID:26535712|PMID:26590045|PMID:26848126|PMID:26931528|PMID:27036377|PMID:27060062|PMID:27134254|PMID:27191192|PMID:27548431|PMID:27612399|PMID:27650144|PMID:27692610|PMID:27819323|PMID:27943240|PMID:27943647|PMID:27994174|PMID:28028683|PMID:28079503|PMID:28137891|PMID:28185410|PMID:28421071|PMID:28492532|PMID:28501347|PMID:28692792|PMID:28847925|PMID:28956000|PMID:29047407|PMID:29102545|PMID:29117789|PMID:29148409|PMID:29152264|PMID:29159471|PMID:29163488|PMID:29239927|PMID:29322034|PMID:29378952|PMID:29611406|PMID:29922587|PMID:29977033|PMID:29988644|PMID:30069026|PMID:30214525|PMID:30273710|PMID:30311386|PMID:30338413|PMID:30407166|PMID:30431487|PMID:30808881|PMID:31135083|PMID:31155445|PMID:31172726|PMID:31816408|PMID:31874111|PMID:32082075|PMID:32199921|PMID:32490121|PMID:33020839|PMID:33329557|PMID:34099780|PMID:34868041|PMID:37368056|PMID:49161|PMID:5173311|PMID:9536098 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9008610 Keratitis Fugax Hereditaria ISO RGD:1318014 D RGD:7240710 20200304 OMIM 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9008610 Keratitis Fugax Hereditaria ISO RGD:1318014 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KERATOENDOTHELIITIS FUGAX HEREDITARIA | ClinVar Annotator: match by term: Keratitis fugax hereditaria PMID:11687797|PMID:11992256|PMID:12355493|PMID:14872505|PMID:15593220|PMID:17038455|PMID:17213252|PMID:17393462|PMID:20159265|PMID:22566169|PMID:23421920|PMID:24033266|PMID:24123366|PMID:24135410|PMID:25038238|PMID:25596455|PMID:25741868|PMID:26020059|PMID:26467025|PMID:26531310|PMID:27612399|PMID:27994174|PMID:28492532|PMID:28692792|PMID:29159471|PMID:29366613|PMID:29922587|PMID:30407166|PMID:30808881|PMID:33329557|PMID:3604606|PMID:49161 8930178 Nlrp3 NLR family pyrin domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8930203 Begain brain enriched guanylate kinase associated gene DOID:0080600 COVID-19 ISO RGD:731845 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8930203 Begain brain enriched guanylate kinase associated gene DOID:0111712 Kagami-Ogata syndrome ISO RGD:731845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paternal uniparental disomy 14 PMID:18176563 8930203 Begain brain enriched guanylate kinase associated gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:731845 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 8930203 Begain brain enriched guanylate kinase associated gene DOID:630 genetic disease ISO RGD:731845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930203 Begain brain enriched guanylate kinase associated gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:731845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8930213 LOC102020652 olfactory receptor 51G2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1351753 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8930213 LOC102020652 olfactory receptor 51G2 gene DOID:630 genetic disease ISO RGD:1351753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930218 Slc27a3 solute carrier family 27 member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8930218 Slc27a3 solute carrier family 27 member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8930218 Slc27a3 solute carrier family 27 member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8930218 Slc27a3 solute carrier family 27 member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8930218 Slc27a3 solute carrier family 27 member 3 gene DOID:5812 MHC class II deficiency ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8930218 Slc27a3 solute carrier family 27 member 3 gene DOID:630 genetic disease ISO RGD:1321607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930218 Slc27a3 solute carrier family 27 member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8930238 Ttc1 tetratricopeptide repeat domain 1 gene DOID:630 genetic disease ISO RGD:1345432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930253 Ing4 inhibitor of growth family member 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1319738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8930253 Ing4 inhibitor of growth family member 4 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1319738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8930253 Ing4 inhibitor of growth family member 4 gene DOID:0111621 Temtamy syndrome ISO RGD:1319738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8930253 Ing4 inhibitor of growth family member 4 gene DOID:10283 prostate cancer ISO RGD:1319738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8930253 Ing4 inhibitor of growth family member 4 gene DOID:630 genetic disease ISO RGD:1319738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930253 Ing4 inhibitor of growth family member 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1319738 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27806345 8930253 Ing4 inhibitor of growth family member 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8930253 Ing4 inhibitor of growth family member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319738 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27806345 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:0050450 Gitelman syndrome ISO RGD:1322823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria PMID:25741868|PMID:28492532 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532|PMID:29140481 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532|PMID:29140481 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:1909 melanoma ISO RGD:1322823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:3211 lysosomal storage disease ISO RGD:1322824 D RGD:9068941 20220825 MouseDO 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:7240710 20180130 OMIM 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic acid storage disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10069709|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28166811|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:9536098 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:9536098 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:3659 sialuria ISO RGD:1322823 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12592494|PMID:12637289|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15172005|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:16715535|PMID:17576681|PMID:17933575|PMID:18399798|PMID:18695252|PMID:19557856|PMID:19763152|PMID:20101035|PMID:2010546|PMID:20301643|PMID:20307669|PMID:21781115|PMID:22406018|PMID:2334213|PMID:23900835|PMID:24767253|PMID:24993898|PMID:25085675|PMID:25525159|PMID:25640679|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:28771251|PMID:29140481|PMID:29654786|PMID:30243016|PMID:31130284|PMID:34979677|PMID:35322241|PMID:9536098 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:630 genetic disease ISO RGD:1322823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24767253|PMID:24993898|PMID:25741868|PMID:28492532|PMID:29140481 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:9000742 Free Sialic Acid Storage Disease ISO RGD:1322823 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:18399798|PMID:18695252|PMID:19557856|PMID:2010546|PMID:20301643|PMID:21781115|PMID:2334213|PMID:24767253|PMID:24993898|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:29140481|PMID:31130284|PMID:34979677|PMID:35322241 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:9003820 Infantile Sialic Storage Disease ISO RGD:1322823 D RGD:7240710 20180207 OMIM 8930280 Slc17a5 solute carrier family 17 member 5 gene DOID:9003820 Infantile Sialic Storage Disease ISO RGD:1322823 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Infantile sialic acid storage disorder (ISSD) | ClinVar Annotator: match by term: N-Acetylneuraminic acid storage disease | ClinVar Annotator: match by term: NANA STORAGE DISEASE PMID:10069709|PMID:10546100|PMID:10581036|PMID:10947946|PMID:11992753|PMID:12121352|PMID:12359136|PMID:12709150|PMID:12794687|PMID:12794688|PMID:15172001|PMID:15510212|PMID:15516337|PMID:15805149|PMID:16170568|PMID:16199547|PMID:18399798|PMID:18695252|PMID:19557856|PMID:2010546|PMID:20301643|PMID:21781115|PMID:2334213|PMID:24767253|PMID:24993898|PMID:25741868|PMID:27848944|PMID:28492532|PMID:28662915|PMID:29140481|PMID:31130284|PMID:34979677|PMID:35322241|PMID:7151835|PMID:7573152 8930299 NGF nerve growth factor gene DOID:5844 myocardial infarction ISO RGD:1352304 D RGD:9068941 20240323 RGD protein:increased expression:myocardium PMID:20360245|REF_RGD_ID:405100231 8930299 NGF nerve growth factor gene DOID:5844 myocardial infarction treatment ISO RGD:1352304 D RGD:9068941 20240323 RGD PMID:20360245|REF_RGD_ID:405100231 8930299 Ngf nerve growth factor gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8930299 Ngf nerve growth factor gene DOID:0050741 alcohol dependence ISO RGD:1352304 D RGD:9068941 20240203 RGD protein:increased expression:serum PMID:17434673|REF_RGD_ID:401965399 8930299 Ngf nerve growth factor gene DOID:0050741 alcohol dependence ISO RGD:1352304 D RGD:9068941 20240208 RGD protein:decreased expression:plasma PMID:16737466|REF_RGD_ID:401965409 8930299 Ngf nerve growth factor gene DOID:0050741 alcohol dependence ISO RGD:1598328 D RGD:9068941 20240229 RGD protein:decreased expression:sciatic nerve PMID:8733743|REF_RGD_ID:401976493 8930299 Ngf nerve growth factor gene DOID:0050848 obstructive sleep apnea ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:17667845|REF_RGD_ID:5144120 8930299 Ngf nerve growth factor gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:10978 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23528019|REF_RGD_ID:7242845 8930299 Ngf nerve growth factor gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:10978 D RGD:9068941 20240309 RGD associated with Experimental Diabetes Mellitus PMID:32681844|REF_RGD_ID:402463968 8930299 Ngf nerve growth factor gene DOID:0060001 withdrawal disorder ISO RGD:1352304 D RGD:9068941 20240208 RGD associated with alcohol dependence;DNA,protein:hypermethylation,decreased expression:promoter,serum PMID:21392176|REF_RGD_ID:401965410 8930299 Ngf nerve growth factor gene DOID:0060001 withdrawal disorder ISO RGD:1352304 D RGD:9068941 20240208 RGD associated with alcohol dependence;protein:decreased expression:plasma PMID:18639986|REF_RGD_ID:401965411 8930299 Ngf nerve growth factor gene DOID:0060001 withdrawal disorder ISO RGD:1598328 D RGD:9068941 20240222 RGD associated with alcohol dependence;protein:altered expression:brain PMID:16252071|REF_RGD_ID:401976435 8930299 Ngf nerve growth factor gene DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ISO RGD:1352304 D RGD:7240710 20180130 OMIM 8930299 Ngf nerve growth factor gene DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ISO RGD:1352304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers | ClinVar Annotator: match by term: HSAN Type V PMID:14976160|PMID:18420729|PMID:19038341|PMID:19945432|PMID:20978020|PMID:21358750|PMID:21387003|PMID:22330829|PMID:25741868|PMID:26215504|PMID:28492532|PMID:30296891|PMID:32693191 8930299 Ngf nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:10978 D RGD:9068941 20200609 RGD associated with Cystitis;protein:increased expression:urine PMID:21717507|REF_RGD_ID:7242779 8930299 Ngf nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16600756 8930299 Ngf nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:17050722|REF_RGD_ID:7242798 8930299 Ngf nerve growth factor gene DOID:0070355 overactive bladder syndrome ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21826717|REF_RGD_ID:7242778 8930299 Ngf nerve growth factor gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Cystitis PMID:21605172|REF_RGD_ID:7242780 8930299 Ngf nerve growth factor gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22473863|REF_RGD_ID:7242775 8930299 Ngf nerve growth factor gene DOID:0080546 non-alcoholic fatty liver ISO RGD:1352304 D RGD:9068941 20240229 RGD protein:increased expression:plasma PMID:22434756|REF_RGD_ID:401976546 8930299 Ngf nerve growth factor gene DOID:0080690 RASopathy ISO RGD:1352304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8930299 Ngf nerve growth factor gene DOID:0080855 Parkinsonism ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19694610 8930299 Ngf nerve growth factor gene DOID:0080855 Parkinsonism treatment ISO RGD:1598328 D RGD:9068941 20240203 RGD PMID:20581854|REF_RGD_ID:401965387 8930299 Ngf nerve growth factor gene DOID:0081292 traumatic brain injury treatment ISO RGD:1598328 D RGD:9068941 20240323 RGD PMID:26285082|REF_RGD_ID:402463964 8930299 Ngf nerve growth factor gene DOID:10003 sensorineural hearing loss ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:14587217|REF_RGD_ID:8655553 8930299 Ngf nerve growth factor gene DOID:10584 retinitis pigmentosa ISO RGD:1598328 D RGD:9068941 20200609 RGD protein:decreased expression:lacrimal gland PMID:20595895|REF_RGD_ID:4891133 8930299 Ngf nerve growth factor gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20978020|PMID:22302274|PMID:28492532 8930299 Ngf nerve growth factor gene DOID:1063 interstitial nephritis ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16889433 8930299 Ngf nerve growth factor gene DOID:10652 Alzheimer's disease ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:21368378|REF_RGD_ID:5144128 8930299 Ngf nerve growth factor gene DOID:10685 separation anxiety disorder ISO RGD:1598328 D RGD:9068941 20240222 RGD protein:decreased expression:hippocampus PMID:24407463|REF_RGD_ID:401976437 8930299 Ngf nerve growth factor gene DOID:10763 hypertension ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:10797303|REF_RGD_ID:5144109 8930299 Ngf nerve growth factor gene DOID:10914 amnestic disorder ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16405025|PMID:19694610 8930299 Ngf nerve growth factor gene DOID:11383 cryptorchidism ISO RGD:1598328 D RGD:9068941 20240307 RGD mRNA,protein:decreased expression:testis PMID:22490502|REF_RGD_ID:402463952 8930299 Ngf nerve growth factor gene DOID:11446 sciatic neuropathy ISO RGD:10978 D RGD:9068941 20240229 RGD protein:increased expression:sciatic nerve PMID:32652504|REF_RGD_ID:401976543 8930299 Ngf nerve growth factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:22776032|REF_RGD_ID:7242913 8930299 Ngf nerve growth factor gene DOID:12143 neurogenic bladder ISO RGD:1352304 D RGD:9068941 20200609 RGD associated with Meningomyelocele;protein:increased expression:urine PMID:23301927|REF_RGD_ID:7242771 8930299 Ngf nerve growth factor gene DOID:12143 neurogenic bladder treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:22220508|REF_RGD_ID:7242776 8930299 Ngf nerve growth factor gene DOID:12217 Lewy body dementia ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8930299 Ngf nerve growth factor gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19824047|REF_RGD_ID:4891065 8930299 Ngf nerve growth factor gene DOID:1289 neurodegenerative disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24244623 8930299 Ngf nerve growth factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:16315781|REF_RGD_ID:4891110 8930299 Ngf nerve growth factor gene DOID:13406 pulmonary sarcoidosis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21059230|REF_RGD_ID:5144061 8930299 Ngf nerve growth factor gene DOID:13948 bladder neck obstruction treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:22795377|REF_RGD_ID:7242774 8930299 Ngf nerve growth factor gene DOID:13949 interstitial cystitis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:23028581|REF_RGD_ID:7242773 8930299 Ngf nerve growth factor gene DOID:13949 interstitial cystitis treatment ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:18162370|REF_RGD_ID:7242805 8930299 Ngf nerve growth factor gene DOID:13949 interstitial cystitis treatment ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:20227820|REF_RGD_ID:7242781 8930299 Ngf nerve growth factor gene DOID:14330 Parkinson's disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 8930299 Ngf nerve growth factor gene DOID:1459 hypothyroidism ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus PMID:19233274|REF_RGD_ID:2303791 8930299 Ngf nerve growth factor gene DOID:1574 alcohol use disorder ISO RGD:10978 D RGD:9068941 20240229 RGD protein:decreased expression:cerebral cortex, hippocampus PMID:19100286|REF_RGD_ID:401976492 8930299 Ngf nerve growth factor gene DOID:1574 alcohol use disorder ISO RGD:1352304 D RGD:9068941 20240210 RGD protein:increased expression:serum PMID:25623403|REF_RGD_ID:401965480 8930299 Ngf nerve growth factor gene DOID:1574 alcohol use disorder ISO RGD:1598328 D RGD:9068941 20240215 RGD protein:decreased expression:brain PMID:15307153|REF_RGD_ID:401965482 8930299 Ngf nerve growth factor gene DOID:1596 depressive disorder ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:19129380|REF_RGD_ID:2303796 8930299 Ngf nerve growth factor gene DOID:1679 cystitis ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:11350415|REF_RGD_ID:7242808 8930299 Ngf nerve growth factor gene DOID:1679 cystitis ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16889433 8930299 Ngf nerve growth factor gene DOID:1679 cystitis ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19996110|REF_RGD_ID:7242802 8930299 Ngf nerve growth factor gene DOID:1679 cystitis treatment ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:20127836|REF_RGD_ID:7242782 8930299 Ngf nerve growth factor gene DOID:1686 glaucoma ISO RGD:1598328 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:18938194|REF_RGD_ID:2303806 8930299 Ngf nerve growth factor gene DOID:1790 malignant mesothelioma ISO RGD:1352304 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8930299 Ngf nerve growth factor gene DOID:1824 status epilepticus ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635431|PMID:8821376 8930299 Ngf nerve growth factor gene DOID:1936 atherosclerosis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:decreased expression:coronary artery PMID:11689207|REF_RGD_ID:5508382 8930299 Ngf nerve growth factor gene DOID:2462 retinal vascular disease ISO RGD:10978 D RGD:9068941 20240307 RGD PMID:23288991|REF_RGD_ID:402463956 8930299 Ngf nerve growth factor gene DOID:2559 opiate dependence ISO RGD:10978 D RGD:9068941 20240229 RGD protein:decreased expression:brain PMID:26440527|REF_RGD_ID:401976545 8930299 Ngf nerve growth factor gene DOID:2559 opiate dependence ISO RGD:1352304 D RGD:9068941 20240217 RGD DNA:hypermethylation:promoter,exon:blood PMID:29224006|REF_RGD_ID:401976280 8930299 Ngf nerve growth factor gene DOID:2560 morphine dependence ISO RGD:1598328 D RGD:9068941 20240208 RGD mRNA,protein:increased expression:central amygdaloid nucleus PMID:22871918|REF_RGD_ID:401965392 8930299 Ngf nerve growth factor gene DOID:2841 asthma ISO RGD:10978 D RGD:9068941 20200609 RGD protein:increased expression:lung, serum PMID:17497413|REF_RGD_ID:4891068 8930299 Ngf nerve growth factor gene DOID:2841 asthma ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:11737043|REF_RGD_ID:4891123 8930299 Ngf nerve growth factor gene DOID:2841 asthma ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:blood, eosinophil PMID:12752594|REF_RGD_ID:4891122 8930299 Ngf nerve growth factor gene DOID:2841 asthma severity ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:17164945|REF_RGD_ID:4891108 8930299 Ngf nerve growth factor gene DOID:2921 glomerulonephritis ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24244623 8930299 Ngf nerve growth factor gene DOID:2921 glomerulonephritis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19169037|REF_RGD_ID:7242783 8930299 Ngf nerve growth factor gene DOID:2986 IgA glomerulonephritis ISO RGD:1352304 D RGD:9068941 20200609 RGD DNA:SNP: :rs11102930 (human) PMID:21178826|REF_RGD_ID:7242801 8930299 Ngf nerve growth factor gene DOID:3082 interstitial lung disease ISO RGD:1352304 D RGD:9068941 20200609 RGD associated with Sjogren's Syndrome;protein:increased expression:serum: PMID:24691584|REF_RGD_ID:8657022 8930299 Ngf nerve growth factor gene DOID:3310 atopic dermatitis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:17073871|REF_RGD_ID:8657069 8930299 Ngf nerve growth factor gene DOID:3312 bipolar disorder sexual_dimorphism ISO RGD:1352304 D RGD:9068941 20240203 RGD DNA:SNPs,haplotypes: :multiple PMID:21294249|REF_RGD_ID:401965386 8930299 Ngf nerve growth factor gene DOID:3393 coronary artery disease ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 8930299 Ngf nerve growth factor gene DOID:3525 middle cerebral artery infarction ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10408807 8930299 Ngf nerve growth factor gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1598328 D RGD:9068941 20240309 RGD PMID:29409115|REF_RGD_ID:402463967 8930299 Ngf nerve growth factor gene DOID:365 bladder disease ISO RGD:10978 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15448108|REF_RGD_ID:7242800 8930299 Ngf nerve growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:12917229|REF_RGD_ID:4891121 8930299 Ngf nerve growth factor gene DOID:418 systemic scleroderma ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21085492|REF_RGD_ID:5144060 8930299 Ngf nerve growth factor gene DOID:431 myofascial pain syndrome ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:17667845|REF_RGD_ID:5144120 8930299 Ngf nerve growth factor gene DOID:4483 rhinitis ISO RGD:1352304 D RGD:9068941 20200609 RGD associated with Sinusitis;protein:increased expression:respiratory system mucosa PMID:19958603|REF_RGD_ID:4891064 8930299 Ngf nerve growth factor gene DOID:4483 rhinitis ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:10224365|REF_RGD_ID:4891115 8930299 Ngf nerve growth factor gene DOID:5154 borna disease ISO RGD:1598328 D RGD:9068941 20240222 RGD mRNA:decreased expression:hippocampus PMID:11175319|REF_RGD_ID:2325644 8930299 Ngf nerve growth factor gene DOID:5419 schizophrenia ISO RGD:1352304 D RGD:9068941 20240224 RGD associated with cannabis abuse;protein:increased expression:serum PMID:14870957|REF_RGD_ID:401976441 8930299 Ngf nerve growth factor gene DOID:574 peripheral nervous system disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15319252 8930299 Ngf nerve growth factor gene DOID:630 genetic disease ISO RGD:1352304 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8930299 Ngf nerve growth factor gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 8930299 Ngf nerve growth factor gene DOID:783 end stage renal disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24244623 8930299 Ngf nerve growth factor gene DOID:783 end stage renal disease treatment ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:19169037|REF_RGD_ID:7242783 8930299 Ngf nerve growth factor gene DOID:784 chronic kidney disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24244623 8930299 Ngf nerve growth factor gene DOID:8398 osteoarthritis treatment ISO RGD:1598328 D RGD:9068941 20240309 RGD PMID:25677108|PMID:33806315|REF_RGD_ID:402463969|REF_RGD_ID:402463970 8930299 Ngf nerve growth factor gene DOID:8463 corneal ulcer ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24244623 8930299 Ngf nerve growth factor gene DOID:8549 chronic ulcer of skin ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24244623 8930299 Ngf nerve growth factor gene DOID:863 nervous system disease ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15093677 8930299 Ngf nerve growth factor gene DOID:8947 diabetic retinopathy ISO RGD:1352304 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18282491|REF_RGD_ID:7242804 8930299 Ngf nerve growth factor gene DOID:90 degenerative disc disease ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:20973063|REF_RGD_ID:5144150 8930299 Ngf nerve growth factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:12499054|PMID:16915089|REF_RGD_ID:5144069|REF_RGD_ID:5144073 8930299 Ngf nerve growth factor gene DOID:9000310 Lung Injury ISO RGD:10978 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:20075049|REF_RGD_ID:5144062 8930299 Ngf nerve growth factor gene DOID:9000310 Lung Injury ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20075049 8930299 Ngf nerve growth factor gene DOID:9000499 Alcoholic Intoxication ISO RGD:10978 D RGD:9068941 20240203 RGD mRNA,protein:increased expression:cerebellum PMID:19861148|REF_RGD_ID:401965398 8930299 Ngf nerve growth factor gene DOID:9000499 Alcoholic Intoxication ISO RGD:1352304 D RGD:9068941 20240208 RGD protein:increased expression:plasma PMID:18639986|REF_RGD_ID:401965411 8930299 Ngf nerve growth factor gene DOID:9000641 Pain ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19103210|REF_RGD_ID:2303798 8930299 Ngf nerve growth factor gene DOID:9000641 Pain treatment ISO RGD:1352304 D RGD:9068941 20200609 RGD associated with Cystitis, Interstitial PMID:17905097|REF_RGD_ID:7242806 8930299 Ngf nerve growth factor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22871964 8930299 Ngf nerve growth factor gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:1352304 D RGD:9068941 20240203 RGD protein:increased expression:serum PMID:17434673|REF_RGD_ID:401965399 8930299 Ngf nerve growth factor gene DOID:9001131 stress-related disorder ISO RGD:1598328 D RGD:9068941 20240307 RGD mRNA,protein:altered expression:hypothalamus PMID:26771945|REF_RGD_ID:402463957 8930299 Ngf nerve growth factor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:sciatic nerve: PMID:11425916|REF_RGD_ID:8657088 8930299 Ngf nerve growth factor gene DOID:9001240 Peripheral Nerve Injuries treatment ISO RGD:1352304 D RGD:9068941 20240307 RGD PMID:22669154|REF_RGD_ID:10413899 8930299 Ngf nerve growth factor gene DOID:9001240 Peripheral Nerve Injuries treatment ISO RGD:1598328 D RGD:9068941 20240323 RGD PMID:27392124|REF_RGD_ID:405100230 8930299 Ngf nerve growth factor gene DOID:9001579 Neurogenic Inflammation ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21570423 8930299 Ngf nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:10978 D RGD:9068941 20200609 RGD associated with Cystitis PMID:16203088|REF_RGD_ID:7242799 8930299 Ngf nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20457222 8930299 Ngf nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Cystitis PMID:18448607|REF_RGD_ID:7242803 8930299 Ngf nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:1598328 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:11425916|REF_RGD_ID:8657088 8930299 Ngf nerve growth factor gene DOID:9002211 Hyperalgesia ISO RGD:1598328 D RGD:9068941 20240307 RGD PMID:24095693|REF_RGD_ID:402463955 8930299 Ngf nerve growth factor gene DOID:9002211 Hyperalgesia treatment ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:22839415|REF_RGD_ID:7242849 8930299 Ngf nerve growth factor gene DOID:9002224 Rotator Cuff Injuries ISO RGD:1598328 D RGD:9068941 20240307 RGD mRNA,protein:increased expression:rotator cuff PMID:30146165|REF_RGD_ID:402463951 8930299 Ngf nerve growth factor gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22666365 8930299 Ngf nerve growth factor gene DOID:9002362 Hyperkinesis ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1661212 8930299 Ngf nerve growth factor gene DOID:9002735 alcohol withdrawal syndrome ISO RGD:1352304 D RGD:9068941 20240229 RGD protein:increased expression:plasma PMID:8727238|REF_RGD_ID:401976550 8930299 Ngf nerve growth factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1598328 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:thalamus and cortex, CNS PMID:8866783|REF_RGD_ID:5508386 8930299 Ngf nerve growth factor gene DOID:9002955 Nerve Degeneration ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22666365 8930299 Ngf nerve growth factor gene DOID:9004354 Alcohol-Related Disorders ISO RGD:10978 D RGD:9068941 20240229 RGD protein:decreased expression:entorhinal cortex PMID:10440485|REF_RGD_ID:401976542 8930299 Ngf nerve growth factor gene DOID:9004354 Alcohol-Related Disorders ISO RGD:1598328 D RGD:9068941 20240208 RGD protein:altered expression:brain PMID:10837897|REF_RGD_ID:401965408 8930299 Ngf nerve growth factor gene DOID:9004354 Alcohol-Related Disorders ISO RGD:1598328 D RGD:9068941 20240229 RGD protein:increased expression:cerebral cortex PMID:14604765|REF_RGD_ID:401976539 8930299 Ngf nerve growth factor gene DOID:9004354 Alcohol-Related Disorders ISO RGD:1598328 D RGD:9068941 20240229 RGD protein:increased expression:frontal cortex,cerebellar vermis PMID:18652597|REF_RGD_ID:401976540 8930299 Ngf nerve growth factor gene DOID:9004354 Alcohol-Related Disorders ISO RGD:1598328 D RGD:9068941 20240229 RGD protein:increased expression:thalamus PMID:21277941|REF_RGD_ID:401976494 8930299 Ngf nerve growth factor gene DOID:9004610 Acute Lung Injury ISO RGD:10978 D RGD:9068941 20200609 RGD PMID:17673270|REF_RGD_ID:5144065 8930299 Ngf nerve growth factor gene DOID:9004965 opiate withdrawal syndrome ISO RGD:1352304 D RGD:9068941 20240229 RGD protein:increased expression:plasma PMID:8727238|REF_RGD_ID:401976550 8930299 Ngf nerve growth factor gene DOID:9005372 Inflammation ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10653021 8930299 Ngf nerve growth factor gene DOID:9005372 Inflammation ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19200610|REF_RGD_ID:2303794 8930299 Ngf nerve growth factor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17715210 8930299 Ngf nerve growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:sciatic nerve PMID:19149268|REF_RGD_ID:2303795 8930299 Ngf nerve growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1598328 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21136036|REF_RGD_ID:5144144 8930299 Ngf nerve growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1598328 D RGD:9068941 20240309 RGD protein:decreased processing:hippocampus PMID:26282349|REF_RGD_ID:402463971 8930299 Ngf nerve growth factor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:10978 D RGD:9068941 20240309 RGD PMID:25728260|REF_RGD_ID:402463972 8930299 Ngf nerve growth factor gene DOID:9005908 Retrograde Degeneration ISO RGD:1598328 D RGD:9068941 20240309 RGD PMID:29609077|REF_RGD_ID:402463965 8930299 Ngf nerve growth factor gene DOID:9006190 Chronic Pancreatitis ISO RGD:1598328 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16098667|REF_RGD_ID:5144071 8930299 Ngf nerve growth factor gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:10978 D RGD:9068941 20240203 RGD PMID:30481505|REF_RGD_ID:401965395 8930299 Ngf nerve growth factor gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:1352304 D RGD:9068941 20240203 RGD PMID:30481505|REF_RGD_ID:401965395 8930299 Ngf nerve growth factor gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:1352304 D RGD:9068941 20240229 RGD associated with brain ischemia PMID:29599834|REF_RGD_ID:401976548 8930299 Ngf nerve growth factor gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:1598328 D RGD:9068941 20240203 RGD PMID:34964700|REF_RGD_ID:401965400 8930299 Ngf nerve growth factor gene DOID:9006646 Metabolic Syndrome ISO RGD:1352304 D RGD:9068941 20200609 RGD PMID:11935372|REF_RGD_ID:1580935 8930299 Ngf nerve growth factor gene DOID:9007096 Stroke ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:19061539|REF_RGD_ID:2303801 8930299 Ngf nerve growth factor gene DOID:9007730 Burns ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:12133564|REF_RGD_ID:5144074 8930299 Ngf nerve growth factor gene DOID:9008091 Optic Nerve Injuries ISO RGD:1598328 D RGD:9068941 20240307 RGD protein:increased expression:retina PMID:28067793|REF_RGD_ID:402463954 8930299 Ngf nerve growth factor gene DOID:9008444 Skeletal Muscle Injuries treatment ISO RGD:1598328 D RGD:9068941 20240323 RGD PMID:26653267|REF_RGD_ID:405100233 8930299 Ngf nerve growth factor gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:1352304 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CONGENITAL PMID:25741868|PMID:28492532 8930299 Ngf nerve growth factor gene DOID:9008717 Rib Fractures ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:9798454|REF_RGD_ID:5144111 8930299 Ngf nerve growth factor gene DOID:9279 hyperhomocysteinemia ISO RGD:1598328 D RGD:9068941 20200609 RGD PMID:21044172|REF_RGD_ID:5144149 8930299 Ngf nerve growth factor gene DOID:9470 bacterial meningitis ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus: PMID:22683802|REF_RGD_ID:8655554 8930299 Ngf nerve growth factor gene DOID:9505 cannabis abuse ISO RGD:1352304 D RGD:9068941 20240203 RGD protein:decreased expression:serum PMID:18774699|REF_RGD_ID:401965396 8930299 Ngf nerve growth factor gene DOID:9743 diabetic neuropathy ISO RGD:1598328 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:sciatic nerve PMID:12469361|REF_RGD_ID:5508379 8930299 Ngf nerve growth factor gene DOID:9975 cocaine dependence ISO RGD:1352304 D RGD:9068941 20240222 RGD protein:decreased expression:serum PMID:17715210|REF_RGD_ID:401976440 8930299 Ngf nerve growth factor gene DOID:9976 heroin dependence ISO RGD:1352304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17715210 8930299 Ngf nerve growth factor gene DOID:9976 heroin dependence ISO RGD:1352304 D RGD:9068941 20240222 RGD protein:decreased expression:serum PMID:17715210|REF_RGD_ID:401976440 8930299 Ngf nerve growth factor gene DOID:9976 heroin dependence treatment ISO RGD:1352304 D RGD:9068941 20240203 RGD DNA:SNP:intron:rs2239622 PMID:21358750|REF_RGD_ID:401965390 8930334 Fgf1 fibroblast growth factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735698 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8930334 Fgf1 fibroblast growth factor 1 gene DOID:10652 Alzheimer's disease ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:20079650|REF_RGD_ID:5509878 8930334 Fgf1 fibroblast growth factor 1 gene DOID:11054 urinary bladder cancer ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:11908679|REF_RGD_ID:2290291 8930334 Fgf1 fibroblast growth factor 1 gene DOID:1240 leukemia ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17219402 8930334 Fgf1 fibroblast growth factor 1 gene DOID:127 leiomyoma disease_progression ISO RGD:735698 D RGD:9068941 20200609 RGD protein:increased expression:uterus PMID:16139411|REF_RGD_ID:2290287 8930334 Fgf1 fibroblast growth factor 1 gene DOID:1380 endometrial cancer disease_progression ISO RGD:735698 D RGD:9068941 20200609 RGD mRNA:increased expression:myometrium PMID:8685603|REF_RGD_ID:2298516 8930334 Fgf1 fibroblast growth factor 1 gene DOID:2316 brain ischemia ISO RGD:2605 D RGD:9068941 20200609 RGD PMID:19497570|REF_RGD_ID:5509879 8930334 Fgf1 fibroblast growth factor 1 gene DOID:2316 brain ischemia ISO RGD:735698 D RGD:9068941 20200609 RGD Rat model using human FGF1 PMID:16635575|REF_RGD_ID:5509881 8930334 Fgf1 fibroblast growth factor 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735698 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:14613644|REF_RGD_ID:2290288 8930334 Fgf1 fibroblast growth factor 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:735698 D RGD:9068941 20200609 RGD protein:increased expression:urine, urinary bladder PMID:7690426|REF_RGD_ID:2298518 8930334 Fgf1 fibroblast growth factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 8930334 Fgf1 fibroblast growth factor 1 gene DOID:5419 schizophrenia ISO RGD:735698 D RGD:9068941 20200609 RGD GWAS result PMID:17893707|REF_RGD_ID:5509880 8930334 Fgf1 fibroblast growth factor 1 gene DOID:5844 myocardial infarction treatment ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:24200746|REF_RGD_ID:10449026 8930334 Fgf1 fibroblast growth factor 1 gene DOID:630 genetic disease ISO RGD:735698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2605 D RGD:9068941 20200609 RGD PMID:20488178|PMID:8662542|REF_RGD_ID:5509876|REF_RGD_ID:5509877 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:21663406|REF_RGD_ID:5509875 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:735698 D RGD:9068941 20200609 RGD Human FGF1 used in rat model of spinal cord injury PMID:18482974|REF_RGD_ID:2317692 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:735698 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms;mRNA:increased expression:lymph node PMID:17242701|REF_RGD_ID:2290286 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9001472 Nasal Polyps ISO RGD:735698 D RGD:9068941 20200609 RGD PMID:16720444|REF_RGD_ID:8655569 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174399 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9003566 Mesothelioma ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878867 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2605 D RGD:9068941 20200609 RGD PMID:19497570|REF_RGD_ID:5509879 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:735698 D RGD:9068941 20200609 RGD Rat model using human FGF1 PMID:16635575|REF_RGD_ID:5509881 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9004657 Weight Gain ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9006024 Hypotension ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9233905 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735698 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735698 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8930334 Fgf1 fibroblast growth factor 1 gene DOID:9296 cleft lip ISO RGD:735698 D RGD:9068941 20200609 RGD DNA:SNP: :rs34010 (human) PMID:24613087|REF_RGD_ID:11567264 8930364 Spmap2 sperm microtubule associated protein 2 gene DOID:630 genetic disease ISO RGD:1319470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930380 Tmem221 transmembrane protein 221 gene DOID:630 genetic disease ISO RGD:2307389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930387 Btla B and T lymphocyte associated gene DOID:630 genetic disease ISO RGD:1350737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930397 Pus3 pseudouridine synthase 3 gene DOID:0050779 hydrolethalus syndrome ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 8930397 Pus3 pseudouridine synthase 3 gene DOID:0060668 anencephaly ISO RGD:1345902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anencephalus | ClinVar Annotator: match by term: Anencephaly PMID:25741868|PMID:27055666|PMID:31680349 8930397 Pus3 pseudouridine synthase 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8930397 Pus3 pseudouridine synthase 3 gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 1 PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 8930397 Pus3 pseudouridine synthase 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8930397 Pus3 pseudouridine synthase 3 gene DOID:1682 congenital heart disease ISO RGD:1345902 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:27055666|PMID:31680349 8930397 Pus3 pseudouridine synthase 3 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1345902 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25741868|PMID:28492532|PMID:30697592|PMID:31474318 8930397 Pus3 pseudouridine synthase 3 gene DOID:5419 schizophrenia ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8930397 Pus3 pseudouridine synthase 3 gene DOID:630 genetic disease ISO RGD:1345902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8930397 Pus3 pseudouridine synthase 3 gene DOID:8488 polyhydramnios ISO RGD:1345902 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868|PMID:27055666|PMID:31680349 8930397 Pus3 pseudouridine synthase 3 gene DOID:9000355 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae ISO RGD:1345902 D RGD:7240710 20190315 OMIM 8930397 Pus3 pseudouridine synthase 3 gene DOID:9000355 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae ISO RGD:1345902 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE PMID:25741868|PMID:27055666|PMID:28454995|PMID:28492532|PMID:30697592|PMID:31444731|PMID:31474318|PMID:34415064|PMID:36125428 8930397 Pus3 pseudouridine synthase 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8930397 Pus3 pseudouridine synthase 3 gene DOID:9007661 Dwarfism ISO RGD:1345902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8930409 Gdf7 growth differentiation factor 7 gene DOID:630 genetic disease ISO RGD:1322500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930427 Sars2 seryl-tRNA synthetase 2, mitochondrial gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1319808 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8930427 Sars2 seryl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1319808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8930427 Sars2 seryl-tRNA synthetase 2, mitochondrial gene DOID:9005811 HUPRA Syndrome ISO RGD:1319808 D RGD:7240710 20180130 OMIM 8930427 Sars2 seryl-tRNA synthetase 2, mitochondrial gene DOID:9005811 HUPRA Syndrome ISO RGD:1319808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HUPRA SYNDROME | ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME PMID:17576681|PMID:21255763|PMID:24034276|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:33751860|PMID:9536098 8930427 Sars2 seryl-tRNA synthetase 2, mitochondrial gene DOID:9352 type 2 diabetes mellitus ISO RGD:1319808 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8930453 Pgbd4 piggyBac transposable element derived 4 gene DOID:2717 Bloom syndrome ISO RGD:1349164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8930453 Pgbd4 piggyBac transposable element derived 4 gene DOID:630 genetic disease ISO RGD:1349164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930453 Pgbd4 piggyBac transposable element derived 4 gene DOID:9256 colorectal cancer ISO RGD:1349164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8930458 Trim72 tripartite motif containing 72 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1603795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8930458 Trim72 tripartite motif containing 72 gene DOID:630 genetic disease ISO RGD:1603795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930472 Vcan versican gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1349729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8930472 Vcan versican gene DOID:10283 prostate cancer ISO RGD:1349729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 8930472 Vcan versican gene DOID:10941 intracranial aneurysm ISO RGD:1349729 D RGD:9068941 20200609 RGD DNA:SNP: :rs173686 (human) PMID:16917090|REF_RGD_ID:1598495 8930472 Vcan versican gene DOID:289 endometriosis ISO RGD:1349729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8930472 Vcan versican gene DOID:5844 myocardial infarction ISO RGD:619940 D RGD:9068941 20200609 RGD PMID:16311904|REF_RGD_ID:1598497 8930472 Vcan versican gene DOID:630 genetic disease ISO RGD:1349729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16043844|PMID:16877430|PMID:21738396|PMID:22739342|PMID:25741868|PMID:28492532 8930472 Vcan versican gene DOID:8501 fundus dystrophy ISO RGD:1349729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16043844|PMID:16877430|PMID:21738396|PMID:22739342|PMID:28492532 8930472 Vcan versican gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1349729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8930472 Vcan versican gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8930472 Vcan versican gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:1349729 D RGD:7240710 20180130 OMIM 8930472 Vcan versican gene DOID:9005830 Hyaloideoretinal Degeneration of Wagner ISO RGD:1349729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: VCAN-related condition | ClinVar Annotator: match by term: Wagner syndrome PMID:10333105|PMID:16043844|PMID:16199547|PMID:16636652|PMID:16877430|PMID:17035272|PMID:19655167|PMID:19901218|PMID:21738396|PMID:22739342|PMID:2319589|PMID:23462753|PMID:23571384|PMID:24174867|PMID:25741868|PMID:28492532 8930472 Vcan versican gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619940 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16311904|REF_RGD_ID:1598497 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:0060180 colitis ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:0070227 intrahepatic cholestasis of pregnancy ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28851649 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:0080162 lupus nephritis severity ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22788914|REF_RGD_ID:7241032 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:3952 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs PMID:19080338|REF_RGD_ID:2313107 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11834524|PMID:19018797 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type1; protein:increased expression:serum: PMID:20569722|REF_RGD_ID:7241235 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:10763 hypertension disease_progression ISO RGD:3952 D RGD:9068941 20200609 RGD associated with SHRSP;mRNA,protein:increased expression:kidney, membrane fraction (rat) PMID:17938382|REF_RGD_ID:1643008 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:10923 sickle cell anemia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16916123 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:1168 familial hyperlipidemia ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:18159007|REF_RGD_ID:2313110 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:1287 cardiovascular system disease ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:25575156 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:12918 thromboangiitis obliterans ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:femoral artery: PMID:23069071|REF_RGD_ID:7207785 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:12918 thromboangiitis obliterans ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:12086338|REF_RGD_ID:1580352 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:13001 carotid stenosis ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:19958991|REF_RGD_ID:7240515 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:13580 cholestasis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224055 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:13949 interstitial cystitis ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:bladder, urine PMID:22441309|REF_RGD_ID:7241234 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:1555 urticaria ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:1793 pancreatic cancer ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:17652277|REF_RGD_ID:2325162 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12677255 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:11481 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:2224 essential thrombocythemia ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24434346|REF_RGD_ID:11354980 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:2349 arteriosclerosis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:2355 anemia ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Renal Insufficiency,Chronic;protein:increased expression:serum: PMID:18974656|REF_RGD_ID:7241202 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:2377 multiple sclerosis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:2723 dermatitis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27206134 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:2921 glomerulonephritis ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:18574676|REF_RGD_ID:7241215 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:3407 carotid artery disease ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19717975|REF_RGD_ID:2312760 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:4676 uremia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347482 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:11481 D RGD:9068941 20200609 RGD protein:increased expression:urine, serum: PMID:23460853|REF_RGD_ID:7241232 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:4989 pancreatitis ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:5082 liver cirrhosis ISO RGD:3952 D RGD:9068941 20240125 RGD associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:520 aortic disease ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:17873024|REF_RGD_ID:2313112 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:730988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:6432 pulmonary hypertension ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel endothelium PMID:17934115|REF_RGD_ID:2298843 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922871 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:77 gastrointestinal system disease susceptibility ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:cds: PMID:11361181|REF_RGD_ID:11354985 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:784 chronic kidney disease ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20820841|REF_RGD_ID:4145364 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:784 chronic kidney disease ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21111939|REF_RGD_ID:7241036 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:824 periodontitis ISO RGD:3952 D RGD:9068941 20200609 RGD associated with obesity;protein:increased expression:aorta: PMID:20065945|REF_RGD_ID:7240508 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:8481 rheumatic myocarditis severity ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22987107|REF_RGD_ID:13702907 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:8577 ulcerative colitis ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15553846 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:8947 diabetic retinopathy ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor, serum PMID:19237221|REF_RGD_ID:2312762 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:3952 D RGD:9068941 20240125 RGD mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:20129688|REF_RGD_ID:7241238 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:serum PMID:12923961|REF_RGD_ID:2325163 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9001542 Albuminuria ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:18299691|REF_RGD_ID:2312766 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23303408|REF_RGD_ID:7240523 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,Type 1;protein:increased expression:plasma: PMID:20138682|REF_RGD_ID:7241237 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:12196270|REF_RGD_ID:1580348 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9003871 Venous Thrombosis ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:thrombus, vein PMID:23199547|REF_RGD_ID:7207783 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3952 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18813897|REF_RGD_ID:2313108 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:12172318|REF_RGD_ID:1580350 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11481 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:18093596|REF_RGD_ID:2306988 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3952 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18983856|REF_RGD_ID:2312764 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9005930 Endotoxemia ISO RGD:3952 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:20061033|REF_RGD_ID:7240511 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20164827|REF_RGD_ID:7240507 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9006359 Vitamin D Deficiency ISO RGD:730988 D RGD:9068941 20200609 RGD associated with obesity;protein:increased expression:serum: PMID:22677566|REF_RGD_ID:7241033 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:18718174|REF_RGD_ID:2313109 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9006709 Primary Graft Dysfunction ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9007096 Stroke susceptibility ISO RGD:730988 D RGD:9068941 20200609 RGD associated with sickle cell anemia;DNA:missense mutation:exon 6:1238G>C (human) PMID:12393616|REF_RGD_ID:737738 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9007278 Anaphylaxis ISO RGD:3952 D RGD:9068941 20200609 RGD PMID:21604443|REF_RGD_ID:7207802 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9007692 Insulin Resistance ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:11882338|REF_RGD_ID:1580351 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:23052973|REF_RGD_ID:7207792 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9008550 Vitamin A Deficiency ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:21512820|REF_RGD_ID:7207803 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12759764 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9009185 Lymphocytic Myocarditis ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:9205546|REF_RGD_ID:13703027 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:730988 D RGD:9068941 20200609 RGD PMID:18693542|REF_RGD_ID:7241211 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9269 maple syrup urine disease ISO RGD:730988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730988 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18619052|REF_RGD_ID:2312765 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9477 pulmonary embolism ISO RGD:3952 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19915157|REF_RGD_ID:7240517 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9743 diabetic neuropathy ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19414982|REF_RGD_ID:2312761 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730988 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;protein:increased expression:artery: PMID:22210567|REF_RGD_ID:7241034 8930502 Vcam1 vascular cell adhesion molecule 1 gene DOID:9970 obesity ISO RGD:11481 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19260948|REF_RGD_ID:2312763 8930534 Tcf21 transcription factor 21 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1351692 D RGD:9068941 20230429 RGD DNA:SNPs:3'UTR: (rs12190287) (human) PMID:28346832|REF_RGD_ID:329337362 8930534 Tcf21 transcription factor 21 gene DOID:3393 coronary artery disease ISO RGD:1351692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:22751097 8930534 Tcf21 transcription factor 21 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1351692 D RGD:9068941 20230429 RGD DNA:SNP: (rs12190287) (human) PMID:26909569|REF_RGD_ID:329337364 8930534 Tcf21 transcription factor 21 gene DOID:630 genetic disease ISO RGD:1351692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930534 Tcf21 transcription factor 21 gene DOID:9007614 Paroxysmal Atrial Fibrillation susceptibility ISO RGD:1351692 D RGD:9068941 20230429 RGD DNA:SNPs: T>C, C>G(rs2327429, rs12190287) (human) PMID:35601004|REF_RGD_ID:329337356 8930540 Il9r interleukin 9 receptor gene DOID:0112003 immunodeficiency 33 ISO RGD:735670 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8930540 Il9r interleukin 9 receptor gene DOID:12849 autistic disorder ISO RGD:735670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8930540 Il9r interleukin 9 receptor gene DOID:1485 cystic fibrosis ISO RGD:735670 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system mucosa PMID:12782818|REF_RGD_ID:5128699 8930540 Il9r interleukin 9 receptor gene DOID:2841 asthma ISO RGD:735670 D RGD:9068941 20200609 RGD PMID:10629460|REF_RGD_ID:5128704 8930540 Il9r interleukin 9 receptor gene DOID:409 liver disease ISO RGD:735670 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8930540 Il9r interleukin 9 receptor gene DOID:9000998 Brain Injuries ISO RGD:735670 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8930540 Il9r interleukin 9 receptor gene DOID:9002720 Splenomegaly ISO RGD:735670 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8930557 Amfr autocrine motility factor receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8930557 Amfr autocrine motility factor receptor gene DOID:0070458 hereditary spastic paraplegia 89 ISO RGD:1323068 D RGD:7240710 20230531 OMIM 8930557 Amfr autocrine motility factor receptor gene DOID:0070458 hereditary spastic paraplegia 89 ISO RGD:1323068 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 89, autosomal recessive PMID:37119330 8930557 Amfr autocrine motility factor receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8930557 Amfr autocrine motility factor receptor gene DOID:10652 Alzheimer's disease ISO RGD:1323068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22313999 8930557 Amfr autocrine motility factor receptor gene DOID:11054 urinary bladder cancer ISO RGD:1323068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9241080 8930557 Amfr autocrine motility factor receptor gene DOID:13938 amenorrhea ISO RGD:1323068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8930557 Amfr autocrine motility factor receptor gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323068 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8930557 Amfr autocrine motility factor receptor gene DOID:3007 breast ductal carcinoma ISO RGD:1323068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8930557 Amfr autocrine motility factor receptor gene DOID:630 genetic disease ISO RGD:1323068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930557 Amfr autocrine motility factor receptor gene DOID:9000918 Disease Progression ISO RGD:1323068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9241080 8930557 Amfr autocrine motility factor receptor gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8930592 Otud6b OTU deubiquitinase 6B gene DOID:1826 epilepsy ISO RGD:1602119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32924626 8930592 Otud6b OTU deubiquitinase 6B gene DOID:630 genetic disease ISO RGD:1602119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32924626 8930592 Otud6b OTU deubiquitinase 6B gene DOID:9000505 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies ISO RGD:1602119 D RGD:7240710 20190315 OMIM 8930592 Otud6b OTU deubiquitinase 6B gene DOID:9000505 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies ISO RGD:1602119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | ClinVar Annotator: match by term: OTUD6B-related condition PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32181568|PMID:32924626 8930602 Arhgap39 Rho GTPase activating protein 39 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1606778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:28492532 8930602 Arhgap39 Rho GTPase activating protein 39 gene DOID:630 genetic disease ISO RGD:1606778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930650 Msrb2 methionine sulfoxide reductase B2 gene DOID:630 genetic disease ISO RGD:1345900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930660 LOC102016130 histone H2A.V gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8930669 Pdk2 pyruvate dehydrogenase kinase 2 gene DOID:0050700 cardiomyopathy ISO RGD:69481 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21037199 8930669 Pdk2 pyruvate dehydrogenase kinase 2 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:69481 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:23949819|PMID:25741868|PMID:25944380|PMID:26478226|PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 8930669 Pdk2 pyruvate dehydrogenase kinase 2 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:69481 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8930669 Pdk2 pyruvate dehydrogenase kinase 2 gene DOID:630 genetic disease ISO RGD:69481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930704 St6galnac1 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1558378 D RGD:9068941 20230622 MouseDO 8930704 St6galnac1 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1349171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930723 Fam13a family with sequence similarity 13 member A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1320343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 8930723 Fam13a family with sequence similarity 13 member A gene DOID:0110859 polycystic kidney disease 2 ISO RGD:1320343 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 2 PMID:25741868 8930723 Fam13a family with sequence similarity 13 member A gene DOID:1749 squamous cell carcinoma ISO RGD:1320343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8930723 Fam13a family with sequence similarity 13 member A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1320343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 8930723 Fam13a family with sequence similarity 13 member A gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1320343 D RGD:9068941 20200609 RGD DNA:SNP: :rs7671167 (human) PMID:25928290|REF_RGD_ID:11552597 8930723 Fam13a family with sequence similarity 13 member A gene DOID:3770 pulmonary fibrosis ISO RGD:1320343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 8930723 Fam13a family with sequence similarity 13 member A gene DOID:630 genetic disease ISO RGD:1320343 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27993330 8930723 Fam13a family with sequence similarity 13 member A gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1320343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8930749 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8930749 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8930749 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1350452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8930749 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1350452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8930749 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350452 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8930749 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1350452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 8930749 St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 gene DOID:630 genetic disease ISO RGD:1350452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930759 Gpc3 glypican 3 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:737615 D RGD:7240710 20180130 OMIM 8930759 Gpc3 glypican 3 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:737615 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 PMID:10402475|PMID:10814714|PMID:12713262|PMID:16158429|PMID:17603795|PMID:17850639|PMID:18203194|PMID:19215053|PMID:20301398|PMID:23606591|PMID:24459012|PMID:24728327|PMID:25741868|PMID:26321508|PMID:26467025|PMID:28492532|PMID:9950367 8930759 Gpc3 glypican 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8930759 Gpc3 glypican 3 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 8930759 Gpc3 glypican 3 gene DOID:1059 intellectual disability ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8930759 Gpc3 glypican 3 gene DOID:12849 autistic disorder ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8930759 Gpc3 glypican 3 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:brain (human) PMID:23530909|REF_RGD_ID:243065128 8930759 Gpc3 glypican 3 gene DOID:2154 nephroblastoma ISO RGD:737615 D RGD:7240710 20180130 OMIM 8930759 Gpc3 glypican 3 gene DOID:2154 nephroblastoma ISO RGD:737615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 PMID:10402475|PMID:10814714|PMID:12085187|PMID:12713262|PMID:16199547|PMID:17576681|PMID:17603795|PMID:17850639|PMID:19215053|PMID:20683991|PMID:20950395|PMID:21362501|PMID:21434539|PMID:24033266|PMID:24169032|PMID:24214682|PMID:24357529|PMID:24459012|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29637653|PMID:31304847|PMID:8589713|PMID:8958336|PMID:9192268|PMID:9536098 8930759 Gpc3 glypican 3 gene DOID:2154 nephroblastoma ISO RGD:737615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:10402475|PMID:10814714|PMID:12085187|PMID:12713262|PMID:16199547|PMID:17576681|PMID:17603795|PMID:17850639|PMID:19215053|PMID:20683991|PMID:20950395|PMID:21434539|PMID:24033266|PMID:24169032|PMID:24214682|PMID:24357529|PMID:24459012|PMID:24728327|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27739211|PMID:28492532|PMID:29637653|PMID:8589713|PMID:8958336|PMID:9192268|PMID:9536098 8930759 Gpc3 glypican 3 gene DOID:2394 ovarian cancer ISO RGD:737615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8930759 Gpc3 glypican 3 gene DOID:3596 placental site trophoblastic tumor ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:placenta, trophoblast cells (human) PMID:20868507|REF_RGD_ID:243065141 8930759 Gpc3 glypican 3 gene DOID:5082 liver cirrhosis ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:blood serum (human) PMID:28801286|REF_RGD_ID:243065135 8930759 Gpc3 glypican 3 gene DOID:5176 renal Wilms' tumor disease_progression ISO RGD:737615 D RGD:9068941 20230413 RGD mRNA, protein:increased expression:kidney (human) PMID:25366870|REF_RGD_ID:243065136 8930759 Gpc3 glypican 3 gene DOID:630 genetic disease ISO RGD:737615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10402475|PMID:12713262|PMID:17603795|PMID:18203194|PMID:19215053|PMID:20683991|PMID:20950395|PMID:23606591|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8589713 8930759 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16698587|PMID:28284560 8930759 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:25449037|REF_RGD_ID:14695020 8930759 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:blood serum (human) PMID:28801286|REF_RGD_ID:243065135 8930759 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737615 D RGD:9068941 20230413 RGD mRNA:increased expression:Peripheral Blood (human) PMID:21438004|REF_RGD_ID:243065125 8930759 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:liver (human) PMID:22883669|REF_RGD_ID:243065139 8930759 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:liver (human) PMID:27286460|REF_RGD_ID:243065134 8930759 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737615 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19496787|REF_RGD_ID:14695019 8930759 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma severity ISO RGD:737615 D RGD:9068941 20230413 RGD mRNA,protein:increased expression:peripheral blood mononuclear cell,blood serum, liver (human) PMID:23558072|REF_RGD_ID:243065131 8930759 Gpc3 glypican 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2725 D RGD:9068941 20200609 RGD PMID:25449037|REF_RGD_ID:14695020 8930759 Gpc3 glypican 3 gene DOID:687 hepatoblastoma ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:liver (human) PMID:23530909|REF_RGD_ID:243065128 8930759 Gpc3 glypican 3 gene DOID:9000018 Coronary Vessel Anomalies ISO RGD:10677 D RGD:9068941 20230413 RGD PMID:19733558|REF_RGD_ID:243065129 8930759 Gpc3 glypican 3 gene DOID:9003566 Mesothelioma ISO RGD:737615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10656689 8930759 Gpc3 glypican 3 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:737615 D RGD:9068941 20230831 RGD mRNA:decreased expression:leg blood vessel (human) PMID:22721676|REF_RGD_ID:401793723 8930759 Gpc3 glypican 3 gene DOID:9006618 Liver Metastasis ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:blood serum (human) PMID:28801286|REF_RGD_ID:243065135 8930759 Gpc3 glypican 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737615 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 8930759 Gpc3 glypican 3 gene DOID:9007329 Human Viral Hepatitis ISO RGD:737615 D RGD:9068941 20230413 RGD protein:increased expression:blood serum (human) PMID:28801286|REF_RGD_ID:243065135 8930779 Snx13 sorting nexin 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8930779 Snx13 sorting nexin 13 gene DOID:630 genetic disease ISO RGD:1320299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930811 Pkn2 protein kinase N2 gene DOID:630 genetic disease ISO RGD:1352598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:731315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:0081133 3-methylglutaconic aciduria type 7a ISO RGD:731315 D RGD:7240710 20220831 OMIM 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:0081133 3-methylglutaconic aciduria type 7a ISO RGD:731315 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA PMID:25741868|PMID:28492532|PMID:32313153|PMID:34140661 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:731315 D RGD:7240710 20220831 OMIM 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:731315 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:16199547|PMID:17576681|PMID:25595726|PMID:25597510|PMID:25597511|PMID:25650066|PMID:25741868|PMID:26916670|PMID:27290639|PMID:27891836|PMID:28492532|PMID:28554332|PMID:28687938|PMID:32219827|PMID:32313153|PMID:32573439|PMID:34115842|PMID:34140661|PMID:34782754|PMID:35616898|PMID:9536098 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia ISO RGD:731315 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia PMID:25741868|PMID:28492532 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:731315 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:25741868|PMID:28492532 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:1059 intellectual disability ISO RGD:731315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:11252 microcytic anemia ISO RGD:731315 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcytic anemia PMID:34140661 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:1227 neutropenia ISO RGD:731315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25597510|PMID:25597511|PMID:25741868|PMID:27290639|PMID:27891836|PMID:28492532|PMID:28687938|PMID:34782754 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:630 genetic disease ISO RGD:731315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25597510|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28554332|PMID:28687938 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:9000852 Severe Congenital Neutropenia 9, Autosomal Dominant ISO RGD:731315 D RGD:7240710 20220427 OMIM 8930836 Clpb ClpB family mitochondrial disaggregase gene DOID:9000852 Severe Congenital Neutropenia 9, Autosomal Dominant ISO RGD:731315 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant PMID:25741868|PMID:28492532|PMID:32313153|PMID:34115842|PMID:34140661 8930859 Zyx zyxin gene DOID:630 genetic disease ISO RGD:1347879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930859 Zyx zyxin gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30697742 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0050865 tongue squamous cell carcinoma severity ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:19691460|REF_RGD_ID:126781771 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:14595263|REF_RGD_ID:126781770 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060074 ductal carcinoma in situ disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:15788662|REF_RGD_ID:2289981 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:732538 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:25741868|PMID:28492532 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060210 amyotrophic lateral sclerosis type 19 ISO RGD:732538 D RGD:7240710 20180130 OMIM 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060210 amyotrophic lateral sclerosis type 19 ISO RGD:732538 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19 | ClinVar Annotator: match by term: ERBB4-related condition PMID:24119685|PMID:25741868|PMID:28492532|PMID:28889094|PMID:29895397|PMID:32579787|PMID:33589474 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:0060224 atrial fibrillation ISO RGD:732538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:10283 prostate cancer ISO RGD:732538 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:17922460|REF_RGD_ID:2289978 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:16685269|REF_RGD_ID:2298502 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:18006009|REF_RGD_ID:2289943 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:11832 visual epilepsy ISO RGD:1551357 D RGD:9068941 20200609 RGD PMID:22158510|REF_RGD_ID:10449024 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:11832 visual epilepsy ISO RGD:620486 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus PMID:22158510|REF_RGD_ID:10449024 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:1909 melanoma ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:19718025 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:2671 transitional cell carcinoma ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:16469638|REF_RGD_ID:2289980 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:2671 transitional cell carcinoma ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:14614020|REF_RGD_ID:2298506 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:22549618|REF_RGD_ID:126790474 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:3307 teratoma ISO RGD:732538 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:29895397 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD protein:altered localization:nucleus PMID:18000820|REF_RGD_ID:126781765 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:732538 D RGD:9068941 20210423 RGD DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human) PMID:24916311|REF_RGD_ID:126781764 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:26824984|REF_RGD_ID:126790475 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:4306 radiculopathy ISO RGD:620486 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:17401154|REF_RGD_ID:2289993 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:4362 cervical cancer ISO RGD:732538 D RGD:9068941 20210423 RGD protein:increased expression: uterine cervix, cytoplasm PMID:28042953|REF_RGD_ID:126790468 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:4450 renal cell carcinoma ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:15360049|REF_RGD_ID:2289987 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:5419 schizophrenia ISO RGD:732538 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:5517 stomach carcinoma disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:21709195|REF_RGD_ID:126781768 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:5520 head and neck squamous cell carcinoma severity ISO RGD:732538 D RGD:9068941 20210423 RGD PMID:20604875|REF_RGD_ID:126790467 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:571 median neuropathy ISO RGD:620486 D RGD:9068941 20210423 RGD PMID:18845940|PMID:19296522|REF_RGD_ID:10449020|REF_RGD_ID:126790486 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:574 peripheral nervous system disease ISO RGD:1551357 D RGD:9068941 20200609 RGD PMID:14555954|REF_RGD_ID:734941 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:6000 congestive heart failure ISO RGD:620486 D RGD:9068941 20200609 RGD associated with Aortic Valve Stenosis;mRNA, protein:decreased expression:heart myocardium PMID:10421602|REF_RGD_ID:1580989 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:630 genetic disease ISO RGD:732538 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:732538 D RGD:9068941 20210423 RGD DNA:insertion/deletion:3'UTR:rs6147150 (human) PMID:22294845|REF_RGD_ID:126781763 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:732538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:732538 D RGD:9068941 20210423 RGD associated with oral squamous cell carcinoma PMID:27444519|REF_RGD_ID:126781762 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD associated with lung non-small cell carcinoma PMID:21324275|REF_RGD_ID:126790471 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000081 Lymphatic Metastasis severity ISO RGD:732538 D RGD:9068941 20210423 RGD associated with colorectal adenocarcinoma PMID:16507107|REF_RGD_ID:126781766 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:732538 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:732538 D RGD:9068941 20210423 RGD associated with lung adenocarcinoma PMID:26254096|REF_RGD_ID:126790470 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9002514 Neointima ISO RGD:620486 D RGD:9068941 20200609 RGD PMID:17438359|REF_RGD_ID:2289992 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:18575766|REF_RGD_ID:2298499 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17465227|REF_RGD_ID:2289947 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004240 Phyllodes Tumor disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:11206334|REF_RGD_ID:2289951 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:16962163|REF_RGD_ID:2289950 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9004464 Skin Neoplasms ISO RGD:732538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD PMID:17203220|REF_RGD_ID:2289979 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:620486 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium PMID:22285193|REF_RGD_ID:10449013 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9007096 Stroke ISO RGD:620486 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15694257|REF_RGD_ID:2289956 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9007715 Endometrial Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:10537356|REF_RGD_ID:2298505 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:732538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008939 Breast Neoplasms ISO RGD:732538 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17465220|REF_RGD_ID:2289949 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:732538 D RGD:9068941 20200609 RGD DNA:amplification PMID:18182100|REF_RGD_ID:2289942 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732538 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-782G>T (human) PMID:18094435|REF_RGD_ID:2289977 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9255 frontotemporal dementia ISO RGD:732538 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532|PMID:35873773 8930882 Erbb4 erb-b2 receptor tyrosine kinase 4 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732538 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-782G>T (human) PMID:18094435|REF_RGD_ID:2289977 8930924 Ccdc63 coiled-coil domain containing 63 gene DOID:1909 melanoma ISO RGD:1604733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 8930924 Ccdc63 coiled-coil domain containing 63 gene DOID:630 genetic disease ISO RGD:1604733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930943 Pwp1 PWP1 homolog, endonuclein gene DOID:630 genetic disease ISO RGD:1605095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930983 Fam193b family with sequence similarity 193 member B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8930983 Fam193b family with sequence similarity 193 member B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601757 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8930983 Fam193b family with sequence similarity 193 member B gene DOID:14748 Sotos syndrome ISO RGD:1601757 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8930983 Fam193b family with sequence similarity 193 member B gene DOID:630 genetic disease ISO RGD:1601757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8930983 Fam193b family with sequence similarity 193 member B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8931022 Nxt1 nuclear transport factor 2 like export factor 1 gene DOID:630 genetic disease ISO RGD:1319614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931039 Tmem109 transmembrane protein 109 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1601968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8931039 Tmem109 transmembrane protein 109 gene DOID:1059 intellectual disability ISO RGD:1601968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8931039 Tmem109 transmembrane protein 109 gene DOID:630 genetic disease ISO RGD:1601968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931047 Rflnb refilin B gene DOID:13580 cholestasis ISO RGD:1601917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8931053 Polr1e RNA polymerase I subunit E gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8931053 Polr1e RNA polymerase I subunit E gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1602318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8931053 Polr1e RNA polymerase I subunit E gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8931053 Polr1e RNA polymerase I subunit E gene DOID:630 genetic disease ISO RGD:1602318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931053 Polr1e RNA polymerase I subunit E gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602318 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8931053 Polr1e RNA polymerase I subunit E gene DOID:9870 galactosemia ISO RGD:1602318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8931069 Rxylt1 ribitol xylosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1319660 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:23217329|PMID:24033266|PMID:25741868|PMID:27733679|PMID:28492532 8931069 Rxylt1 ribitol xylosyltransferase 1 gene DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 ISO RGD:1319660 D RGD:7240710 20180130 OMIM 8931069 Rxylt1 ribitol xylosyltransferase 1 gene DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 ISO RGD:1319660 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 PMID:16199547|PMID:17576681|PMID:23217329|PMID:23519211|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27733679|PMID:28492532|PMID:30017359|PMID:31742715|PMID:34490615|PMID:9536098 8931069 Rxylt1 ribitol xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319660 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931080 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0050572 cone-rod dystrophy ISO RGD:1353704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15060128|PMID:19370764|PMID:20301784|PMID:25741868|PMID:28492532 8931080 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8931080 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080488 mucolipidosis ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:24033266|PMID:25741868 8931080 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080678 mucolipidosis III gamma ISO RGD:1353704 D RGD:7240710 20190315 OMIM 8931080 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0080678 mucolipidosis III gamma ISO RGD:1353704 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma PMID:10712439|PMID:15060128|PMID:15532026|PMID:16199547|PMID:17576681|PMID:19370764|PMID:19659762|PMID:20034096|PMID:20147709|PMID:20301784|PMID:20951619|PMID:21792934|PMID:23430803|PMID:24033266|PMID:24123366|PMID:24316125|PMID:24767253|PMID:24807205|PMID:25182519|PMID:25741868|PMID:26130485|PMID:26935170|PMID:27038293|PMID:27243974|PMID:27896079|PMID:28492532|PMID:28950892|PMID:29170090|PMID:29704188|PMID:29872134|PMID:30235039|PMID:30507725|PMID:30882951|PMID:32651481|PMID:36344539|PMID:9536098 8931080 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353704 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8931080 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:1826 epilepsy ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8931080 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8931080 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:3343 glycoproteinosis ISO RGD:1353704 D RGD:9068941 20200609 RGD mucolipidosis IIIC/variant pseudo-hurler polydystrophy PMID:10712439|REF_RGD_ID:1599045 8931080 Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma gene DOID:630 genetic disease ISO RGD:1353704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8931103 Cdyl chromodomain Y like gene DOID:1826 epilepsy ISO RGD:1556912 D RGD:9068941 20220825 MouseDO 8931103 Cdyl chromodomain Y like gene DOID:5409 lung small cell carcinoma ISO RGD:1606325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8931103 Cdyl chromodomain Y like gene DOID:630 genetic disease ISO RGD:1606325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931119 Spn sialophorin gene DOID:0060041 autism spectrum disorder ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8931119 Spn sialophorin gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:737577 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8931119 Spn sialophorin gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:737577 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8931119 Spn sialophorin gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:737577 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8931119 Spn sialophorin gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:737577 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8931119 Spn sialophorin gene DOID:12849 autistic disorder ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8931119 Spn sialophorin gene DOID:1574 alcohol use disorder ISO RGD:11339 D RGD:9068941 20240127 RGD associated with Prenatal Exposure Delayed Effects and anxiety disorder:DNA:Hypermthylation:promoter PMID:30016666|REF_RGD_ID:401959614 8931119 Spn sialophorin gene DOID:182 calcinosis ISO RGD:737577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8931119 Spn sialophorin gene DOID:4079 heart valve disease ISO RGD:737577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8931119 Spn sialophorin gene DOID:5419 schizophrenia ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8931119 Spn sialophorin gene DOID:630 genetic disease ISO RGD:737577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931119 Spn sialophorin gene DOID:9002457 Experimental Arthritis ISO RGD:3750 D RGD:9068941 20200609 RGD associated with Staphylococcal Infections PMID:7927732|REF_RGD_ID:2303983 8931119 Spn sialophorin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8931125 Thap8 THAP domain containing 8 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8931125 Thap8 THAP domain containing 8 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8931125 Thap8 THAP domain containing 8 gene DOID:630 genetic disease ISO RGD:1343379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931135 LOC102011649 NADH-cytochrome b5 reductase 2 gene DOID:630 genetic disease ISO RGD:1602002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931148 Mff mitochondrial fission factor gene DOID:224 transient cerebral ischemia treatment ISO RGD:1310230 D RGD:9068941 20200609 RGD PMID:26116440|REF_RGD_ID:12879457 8931148 Mff mitochondrial fission factor gene DOID:5844 myocardial infarction ISO RGD:1321011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867156 8931148 Mff mitochondrial fission factor gene DOID:5844 myocardial infarction treatment ISO RGD:1321012 D RGD:9068941 20200609 RGD PMID:23867156|REF_RGD_ID:12879458 8931148 Mff mitochondrial fission factor gene DOID:630 genetic disease ISO RGD:1321011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8931148 Mff mitochondrial fission factor gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1321011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:22499341|PMID:25558065 8931148 Mff mitochondrial fission factor gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1321011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867156 8931148 Mff mitochondrial fission factor gene DOID:9002077 Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 ISO RGD:1321011 D RGD:7240710 20190315 OMIM 8931148 Mff mitochondrial fission factor gene DOID:9002077 Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 ISO RGD:1321011 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 PMID:22499341|PMID:25558065|PMID:25741868|PMID:26783368|PMID:28492532|PMID:32181496|PMID:34750646 8931181 Lax1 lymphocyte transmembrane adaptor 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606285 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8931181 Lax1 lymphocyte transmembrane adaptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1606285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8931181 Lax1 lymphocyte transmembrane adaptor 1 gene DOID:630 genetic disease ISO RGD:1606285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931181 Lax1 lymphocyte transmembrane adaptor 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606285 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8931181 Lax1 lymphocyte transmembrane adaptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8931203 Asb14 ankyrin repeat and SOCS box containing 14 gene DOID:0060857 septooptic dysplasia ISO RGD:1343044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:28492532|PMID:32796691 8931203 Asb14 ankyrin repeat and SOCS box containing 14 gene DOID:0111111 maturity-onset diabetes of the young type 14 ISO RGD:1343044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14 PMID:25741868|PMID:28492532 8931203 Asb14 ankyrin repeat and SOCS box containing 14 gene DOID:630 genetic disease ISO RGD:1343044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8931203 Asb14 ankyrin repeat and SOCS box containing 14 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1343044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8931218 Fsip2 fibrous sheath interacting protein 2 gene DOID:0111911 spermatogenic failure 34 ISO RGD:1602400 D RGD:7240710 20190315 OMIM 8931218 Fsip2 fibrous sheath interacting protein 2 gene DOID:0111911 spermatogenic failure 34 ISO RGD:1602400 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 34 PMID:25741868|PMID:30137358|PMID:35654582 8931218 Fsip2 fibrous sheath interacting protein 2 gene DOID:2843 long QT syndrome ISO RGD:1602400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8931218 Fsip2 fibrous sheath interacting protein 2 gene DOID:630 genetic disease ISO RGD:1602400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931218 Fsip2 fibrous sheath interacting protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8931245 Bin2 bridging integrator 2 gene DOID:630 genetic disease ISO RGD:1315604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931262 Tbx20 T-box transcription factor 20 gene DOID:0070315 hypoplastic right heart syndrome ISO RGD:1319719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic right heart syndrome 8931262 Tbx20 T-box transcription factor 20 gene DOID:0080333 aortic valve disease 1 ISO RGD:1319719 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:19762328|PMID:25741868|PMID:27510170|PMID:27642787|PMID:28553164|PMID:30820038 8931262 Tbx20 T-box transcription factor 20 gene DOID:0110109 atrial heart septal defect 4 ISO RGD:1319719 D RGD:7240710 20180130 OMIM 8931262 Tbx20 T-box transcription factor 20 gene DOID:0110109 atrial heart septal defect 4 ISO RGD:1319719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect 4 | ClinVar Annotator: match by term: TBX20-related condition PMID:17668378|PMID:18834961|PMID:19074289|PMID:19762328|PMID:25741868|PMID:27510170|PMID:27642787|PMID:28492532|PMID:28553164|PMID:29089047|PMID:29517769|PMID:30820038 8931262 Tbx20 T-box transcription factor 20 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319719 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:29089047|PMID:31333075|PMID:31568572 8931262 Tbx20 T-box transcription factor 20 gene DOID:1657 ventricular septal defect ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:hypomethylation:promoter PMID:30084275|REF_RGD_ID:155882594 8931262 Tbx20 T-box transcription factor 20 gene DOID:1682 congenital heart disease ISO RGD:1319719 D RGD:9068941 20230202 RGD mRNA,protein:decreased expression:heart (human) PMID:27572266|REF_RGD_ID:155882587 8931262 Tbx20 T-box transcription factor 20 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:SNP,haplotype:promoter: PMID:27034249|REF_RGD_ID:155882589 8931262 Tbx20 T-box transcription factor 20 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:SNPs:exon5: c.657A>C (rs3999941) PMID:25487630|REF_RGD_ID:155882596 8931262 Tbx20 T-box transcription factor 20 gene DOID:1882 atrial heart septal defect susceptibility ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:SNPs, haplotype: (rs17675131, rs4720169) (human) PMID:26675025|REF_RGD_ID:155882600 8931262 Tbx20 T-box transcription factor 20 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1319719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8931262 Tbx20 T-box transcription factor 20 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8931262 Tbx20 T-box transcription factor 20 gene DOID:6000 congestive heart failure ISO RGD:1319719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8931262 Tbx20 T-box transcription factor 20 gene DOID:630 genetic disease ISO RGD:1319719 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28049825|PMID:28492532|PMID:29089047|PMID:34426522 8931262 Tbx20 T-box transcription factor 20 gene DOID:6419 tetralogy of Fallot ISO RGD:1319719 D RGD:9068941 20230202 RGD DNA:hypomethylation:promoter PMID:31138201|REF_RGD_ID:155882584 8931262 Tbx20 T-box transcription factor 20 gene DOID:6419 tetralogy of Fallot ISO RGD:1319719 D RGD:9068941 20230202 RGD mRNA:increased expression:heart (human) PMID:18275040|REF_RGD_ID:155882585 8931262 Tbx20 T-box transcription factor 20 gene DOID:9003936 Cardiomegaly ISO RGD:1319719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8931262 Tbx20 T-box transcription factor 20 gene DOID:9006205 Animal Disease Models ISO RGD:1319719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8931262 Tbx20 T-box transcription factor 20 gene DOID:9007174 Ventricular Remodeling ISO RGD:1319719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8931262 Tbx20 T-box transcription factor 20 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1319719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 8931283 Pcp4 Purkinje cell protein 4 gene DOID:127 leiomyoma ISO RGD:731616 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:uterine myometrium: PMID:14561813|REF_RGD_ID:9850247 8931283 Pcp4 Purkinje cell protein 4 gene DOID:12849 autistic disorder ISO RGD:731616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8931283 Pcp4 Purkinje cell protein 4 gene DOID:12858 Huntington's disease ISO RGD:731616 D RGD:9068941 20200609 RGD protein:decreased expression:substantium PMID:9697113|REF_RGD_ID:9850159 8931283 Pcp4 Purkinje cell protein 4 gene DOID:1824 status epilepticus ISO RGD:3271 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:20505763|REF_RGD_ID:9850150 8931283 Pcp4 Purkinje cell protein 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:731616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8931283 Pcp4 Purkinje cell protein 4 gene DOID:9004004 Water-Electrolyte Imbalance ISO RGD:3271 D RGD:9068941 20200609 RGD PMID:11003989|REF_RGD_ID:9850274 8931283 Pcp4 Purkinje cell protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3271 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cytoplasm: PMID:19480007|REF_RGD_ID:9850273 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:69083 D RGD:7240710 20180130 OMIM 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia ISO RGD:69083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency PMID:19535795|PMID:19567835|PMID:26467025|PMID:28492532 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19535795 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:69083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:10763 hypertension ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2720 D RGD:9068941 20200609 RGD PMID:22341819|REF_RGD_ID:10401238 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:12336 male infertility ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20063086 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:12700 hyperprolactinemia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2204052 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:13938 amenorrhea ISO RGD:69083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:1612 breast cancer severity ISO RGD:69083 D RGD:9068941 20200609 RGD DNA:SNP:CDS:16Ser allele associated with decreased disease free survival alone (p=0.05) or in combination with the insLQ allele of LHCGR (p=0.001) PMID:17692113|REF_RGD_ID:2292541 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:1924 hypogonadism ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20063086 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:1924 hypogonadism treatment ISO RGD:1553302 D RGD:9068941 20200609 RGD PMID:3097822|REF_RGD_ID:9685135 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:824 periodontitis ISO RGD:69083 D RGD:9068941 20200609 RGD DNA:snp:exon:c.59C>G (human) PMID:15490304|REF_RGD_ID:9685136 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9000053 Headache ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12910066 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19261682 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9001642 Intestinal Polyps ISO RGD:69083 D RGD:9068941 20230803 CTD CTD Direct Evidence: therapeutic PMID:24431404 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9001981 Weight Loss ISO RGD:69083 D RGD:9068941 20230803 CTD CTD Direct Evidence: therapeutic PMID:24431404 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9002395 Hypothermia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9002554 Tachycardia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9007001 Bradycardia ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6350720 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9007284 Precocious Puberty ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345393 8931290 Gnrh1 gonadotropin releasing hormone 1 gene DOID:9008385 Vomiting ISO RGD:69083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12910066 8931297 Tmem119 transmembrane protein 119 gene DOID:630 genetic disease ISO RGD:1602276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931302 Lyar Ly1 antibody reactive gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8931302 Lyar Ly1 antibody reactive gene DOID:630 genetic disease ISO RGD:1604346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931319 Rhcg Rh family C glycoprotein gene DOID:0050758 metabolic acidosis ISO RGD:727859 D RGD:9068941 20200609 RGD protein:increased expression:medulla, kidney collecting duct intercalated cell PMID:16144966|REF_RGD_ID:8554685 8931319 Rhcg Rh family C glycoprotein gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1345053 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8931319 Rhcg Rh family C glycoprotein gene DOID:1074 kidney failure ISO RGD:727859 D RGD:9068941 20200609 RGD protein:altered localization PMID:17652373|REF_RGD_ID:9850158 8931319 Rhcg Rh family C glycoprotein gene DOID:2717 Bloom syndrome ISO RGD:1345053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8931319 Rhcg Rh family C glycoprotein gene DOID:4500 hypokalemia ISO RGD:727859 D RGD:9068941 20200609 RGD protein:increased expression:outer medulla of kidney PMID:21753075|REF_RGD_ID:9850155 8931319 Rhcg Rh family C glycoprotein gene DOID:630 genetic disease ISO RGD:1345053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931319 Rhcg Rh family C glycoprotein gene DOID:9005658 Hypoaldosteronism treatment ISO RGD:727859 D RGD:9068941 20200609 RGD PMID:21415155|REF_RGD_ID:9850160 8931319 Rhcg Rh family C glycoprotein gene DOID:9256 colorectal cancer ISO RGD:1345053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8931334 Podxl2 podocalyxin like 2 gene DOID:0111947 immunodeficiency 21 ISO RGD:1347781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8931334 Podxl2 podocalyxin like 2 gene DOID:630 genetic disease ISO RGD:1347781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931334 Podxl2 podocalyxin like 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347781 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8931334 Podxl2 podocalyxin like 2 gene DOID:9270 alkaptonuria ISO RGD:1347781 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:732200 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:732200 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:732200 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:732200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:732200 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0081097 Rafiq syndrome ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:732200 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:732200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia with Dysarthria PMID:31047799 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:1826 epilepsy ISO RGD:732200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:3652 Leigh disease ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:630 genetic disease ISO RGD:732200 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:732200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:9006881 INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA ISO RGD:732200 D RGD:7240710 20200722 OMIM 8931344 Abca2 ATP binding cassette subfamily A member 2 gene DOID:9006881 INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA ISO RGD:732200 D RGD:8554872 20220913 ClinVar ClinVar Annotator: match by term: ABCA2-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with poor growth and with or without seizures or ataxia PMID:25741868|PMID:28492532|PMID:30237576 8931418 Tmprss13 transmembrane serine protease 13 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8931418 Tmprss13 transmembrane serine protease 13 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8931418 Tmprss13 transmembrane serine protease 13 gene DOID:0080690 RASopathy ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8931418 Tmprss13 transmembrane serine protease 13 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8931418 Tmprss13 transmembrane serine protease 13 gene DOID:0111123 nephronophthisis 15 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8931418 Tmprss13 transmembrane serine protease 13 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8931418 Tmprss13 transmembrane serine protease 13 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8931418 Tmprss13 transmembrane serine protease 13 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604778 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8931418 Tmprss13 transmembrane serine protease 13 gene DOID:1059 intellectual disability ISO RGD:1604778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8931418 Tmprss13 transmembrane serine protease 13 gene DOID:630 genetic disease ISO RGD:1604778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931418 Tmprss13 transmembrane serine protease 13 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8931418 Tmprss13 transmembrane serine protease 13 gene DOID:9007661 Dwarfism ISO RGD:1604778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8931454 Bcap29 B cell receptor associated protein 29 gene DOID:13938 amenorrhea ISO RGD:1347055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8931454 Bcap29 B cell receptor associated protein 29 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8931454 Bcap29 B cell receptor associated protein 29 gene DOID:630 genetic disease ISO RGD:1347055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931465 Med31 mediator complex subunit 31 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343042 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 8931465 Med31 mediator complex subunit 31 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1343042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8931465 Med31 mediator complex subunit 31 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1343042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8931465 Med31 mediator complex subunit 31 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1343042 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8931465 Med31 mediator complex subunit 31 gene DOID:630 genetic disease ISO RGD:1343042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931473 Apoh apolipoprotein H gene DOID:0060903 thrombosis ISO RGD:1310625 D RGD:9068941 20200609 RGD PMID:24642748|REF_RGD_ID:10054118 8931473 Apoh apolipoprotein H gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1321637 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 8931473 Apoh apolipoprotein H gene DOID:2349 arteriosclerosis ISO RGD:1321637 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:6613192|REF_RGD_ID:2313992 8931473 Apoh apolipoprotein H gene DOID:2988 antiphospholipid syndrome ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:24642748|REF_RGD_ID:10054118 8931473 Apoh apolipoprotein H gene DOID:341 peripheral vascular disease ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:17626983|REF_RGD_ID:2313983 8931473 Apoh apolipoprotein H gene DOID:4449 macular retinal edema ISO RGD:1321637 D RGD:9068941 20200609 RGD associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: PMID:16080911|REF_RGD_ID:2315548 8931473 Apoh apolipoprotein H gene DOID:5844 myocardial infarction ISO RGD:1310625 D RGD:9068941 20200609 RGD PMID:12826288|REF_RGD_ID:10054111 8931473 Apoh apolipoprotein H gene DOID:5844 myocardial infarction ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:15322656|REF_RGD_ID:2313985 8931473 Apoh apolipoprotein H gene DOID:630 genetic disease ISO RGD:1321637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931473 Apoh apolipoprotein H gene DOID:8947 diabetic retinopathy ISO RGD:1321637 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:18695102|REF_RGD_ID:2313982 8931473 Apoh apolipoprotein H gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:11795690|REF_RGD_ID:2313988 8931473 Apoh apolipoprotein H gene DOID:9002165 Diabetic Nephropathies ISO RGD:1321637 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:11302005|REF_RGD_ID:2313989 8931473 Apoh apolipoprotein H gene DOID:9002231 Fetal Growth Retardation ISO RGD:1321638 D RGD:9068941 20200609 RGD PMID:24642748|REF_RGD_ID:10054118 8931473 Apoh apolipoprotein H gene DOID:9003002 Fetal Resorption ISO RGD:1321638 D RGD:9068941 20200609 RGD PMID:24642748|REF_RGD_ID:10054118 8931473 Apoh apolipoprotein H gene DOID:9007096 Stroke ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:14595478|REF_RGD_ID:2313986 8931473 Apoh apolipoprotein H gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1310625 D RGD:9068941 20200609 RGD mRNA:increased expression:plasma: PMID:23288050|REF_RGD_ID:10054107 8931473 Apoh apolipoprotein H gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8931473 Apoh apolipoprotein H gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:6613192|REF_RGD_ID:2313992 8931473 Apoh apolipoprotein H gene DOID:9351 diabetes mellitus ISO RGD:1321637 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:18695102|REF_RGD_ID:2313982 8931473 Apoh apolipoprotein H gene DOID:9351 diabetes mellitus ISO RGD:1321637 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9377806|REF_RGD_ID:2313991 8931473 Apoh apolipoprotein H gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321637 D RGD:9068941 20200609 RGD PMID:16126948|REF_RGD_ID:2313984 8931473 Apoh apolipoprotein H gene DOID:9744 type 1 diabetes mellitus ISO RGD:1321638 D RGD:9068941 20200609 RGD PMID:9472678|REF_RGD_ID:2313990 8931485 Best1 bestrophin 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868 8931485 Best1 bestrophin 1 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1323228 D RGD:9068941 20230112 CTD CTD Direct Evidence: marker/mechanism 8931485 Best1 bestrophin 1 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1323229 D RGD:9068941 20230112 MouseDO OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152 8931485 Best1 bestrophin 1 gene DOID:0050662 bestrophinopathy ISO RGD:1323228 D RGD:7240710 20180130 OMIM 8931485 Best1 bestrophin 1 gene DOID:0050662 bestrophinopathy ISO RGD:1323228 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:10788642|PMID:10798642|PMID:10854112|PMID:16754206|PMID:17110374|PMID:17287362|PMID:18179881|PMID:18985398|PMID:19372599|PMID:19853238|PMID:20057343|PMID:20927214|PMID:21077756|PMID:21109774|PMID:21192766|PMID:21269699|PMID:21273940|PMID:2133066|PMID:21330666|PMID:21412020|PMID:2162627|PMID:21738390|PMID:21809908|PMID:21825197|PMID:21878505|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23213274|PMID:23290749|PMID:23825107|PMID:24033266|PMID:24560797|PMID:25082885|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26201355|PMID:26310487|PMID:26333019|PMID:26720466|PMID:27071392|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29063836|PMID:29215532|PMID:29507198|PMID:29555955|PMID:29668979|PMID:29781975|PMID:29847639|PMID:30498755|PMID:30578502|PMID:30593719|PMID:30718709|PMID:31570112|PMID:31766397|PMID:31814694|PMID:32141364|PMID:32239196|PMID:33302512|PMID:33546218|PMID:34015078|PMID:34327816|PMID:9700209 8931485 Best1 bestrophin 1 gene DOID:0050817 Stargardt disease ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10854112|PMID:16754206|PMID:18179881|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:23290749|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:28492532|PMID:29507198|PMID:30718709|PMID:32207364|PMID:33546218 8931485 Best1 bestrophin 1 gene DOID:0110396 retinitis pigmentosa 50 ISO RGD:1323228 D RGD:7240710 20180130 OMIM 8931485 Best1 bestrophin 1 gene DOID:0110396 retinitis pigmentosa 50 ISO RGD:1323228 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 50 PMID:19853238|PMID:21330666|PMID:24560797|PMID:25741868|PMID:26418331|PMID:26716959|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30582078|PMID:30718709|PMID:32239196|PMID:36909829|PMID:9700209 8931485 Best1 bestrophin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8931485 Best1 bestrophin 1 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 8931485 Best1 bestrophin 1 gene DOID:0111031 hemochromatosis type 5 ISO RGD:1323228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 5 PMID:14615048|PMID:28492532 8931485 Best1 bestrophin 1 gene DOID:0111569 autosomal dominant vitreoretinochoroidopathy ISO RGD:1323228 D RGD:7240710 20180130 OMIM 8931485 Best1 bestrophin 1 gene DOID:0111569 autosomal dominant vitreoretinochoroidopathy ISO RGD:1323228 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VRCP autosomal dominant PMID:10798642|PMID:10854112|PMID:11585313|PMID:12543751|PMID:13534955|PMID:14615048|PMID:15452077|PMID:16754206|PMID:17065513|PMID:17110374|PMID:17576681|PMID:18179881|PMID:18289629|PMID:18611979|PMID:19853238|PMID:21072067|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21436265|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23213274|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25741868|PMID:25999674|PMID:26200502|PMID:26333019|PMID:26771239|PMID:27519691|PMID:27764019|PMID:28225368|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29215532|PMID:29555955|PMID:29844330|PMID:29976937|PMID:30498755|PMID:30718709|PMID:33546218|PMID:9536098 8931485 Best1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10453731|PMID:10798642|PMID:10854112|PMID:11713080|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:17898294|PMID:18179881|PMID:19853238|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30718709|PMID:33546218|PMID:9536098 8931485 Best1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29063836|PMID:29068140|PMID:30718709|PMID:33546218|PMID:9536098 8931485 Best1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:20057343|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26310487|PMID:26333019|PMID:27071392|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30593719|PMID:30718709|PMID:33039401|PMID:33302512|PMID:33546218|PMID:9536098 8931485 Best1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:20057343|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26310487|PMID:26333019|PMID:27071392|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30593719|PMID:30718709|PMID:33039401|PMID:33302512|PMID:33546218|PMID:36909829|PMID:9536098 8931485 Best1 bestrophin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1323228 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10798642|PMID:10854112|PMID:14615048|PMID:16754206|PMID:17110374|PMID:17576681|PMID:18179881|PMID:19853238|PMID:20057343|PMID:21109774|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23290749|PMID:24033266|PMID:24560797|PMID:25324289|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26310487|PMID:26333019|PMID:27071392|PMID:27519691|PMID:27764019|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:29063836|PMID:29068140|PMID:29215532|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30593719|PMID:30718709|PMID:33039401|PMID:33302512|PMID:33546218|PMID:34012682|PMID:36909829|PMID:9536098 8931485 Best1 bestrophin 1 gene DOID:1059 intellectual disability ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8931485 Best1 bestrophin 1 gene DOID:4448 macular degeneration ISO RGD:1323228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10798642|PMID:11241846|PMID:25741868|PMID:27031371|PMID:27193166|PMID:28481155|PMID:28492532|PMID:28559085|PMID:29781975|PMID:30718709|PMID:30880907|PMID:33546218 8931485 Best1 bestrophin 1 gene DOID:630 genetic disease ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8931485 Best1 bestrophin 1 gene DOID:8501 fundus dystrophy ISO RGD:1323228 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10331951|PMID:10394929|PMID:10788642|PMID:10798642|PMID:10854112|PMID:11585313|PMID:11756879|PMID:11904445|PMID:12565808|PMID:13129869|PMID:13534955|PMID:14205432|PMID:15452077|PMID:16286623|PMID:16754206|PMID:16769844|PMID:17065513|PMID:17110374|PMID:17576681|PMID:18179881|PMID:18289629|PMID:18844018|PMID:18985398|PMID:19375515|PMID:19597114|PMID:19853238|PMID:20375334|PMID:20381869|PMID:20927214|PMID:21072067|PMID:21109774|PMID:21192766|PMID:21269699|PMID:21273940|PMID:21320969|PMID:2133066|PMID:21330666|PMID:21436265|PMID:21473666|PMID:21809908|PMID:21825197|PMID:21878505|PMID:23213274|PMID:23290749|PMID:23825107|PMID:23880862|PMID:24560797|PMID:25082885|PMID:25174897|PMID:25489231|PMID:25741868|PMID:26200502|PMID:26201355|PMID:26333019|PMID:26418331|PMID:26720466|PMID:26771239|PMID:27078032|PMID:27193166|PMID:27519691|PMID:28041643|PMID:28225368|PMID:28492532|PMID:28559085|PMID:28687848|PMID:29115605|PMID:29555955|PMID:29668979|PMID:29781975|PMID:29847639|PMID:29976937|PMID:30498755|PMID:30582078|PMID:30593719|PMID:30718709|PMID:31519547|PMID:32239196|PMID:32321300|PMID:33546218|PMID:36909829|PMID:9536098|PMID:9662395|PMID:9700209 8931485 Best1 bestrophin 1 gene DOID:9002631 Vitelliform Macular Dystrophy 1 ISO RGD:1323228 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 PMID:10854112|PMID:17065513|PMID:18289629|PMID:21436265|PMID:23213274|PMID:24560797|PMID:25741868|PMID:28225368|PMID:28492532|PMID:28559085|PMID:30718709|PMID:33546218 8931485 Best1 bestrophin 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1323228 D RGD:7240710 20180725 OMIM 8931485 Best1 bestrophin 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1323228 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:10331951|PMID:10394929|PMID:10453731|PMID:10766140|PMID:10788642|PMID:10798642|PMID:10854112|PMID:11241846|PMID:11713080|PMID:11756879|PMID:11904445|PMID:12939260|PMID:13129869|PMID:14205432|PMID:14517959|PMID:14615048|PMID:16286623|PMID:16754206|PMID:17065513|PMID:17110374|PMID:17576681|PMID:17698758|PMID:17898294|PMID:18179881|PMID:18289629|PMID:18703557|PMID:18985398|PMID:19372599|PMID:19597114|PMID:19853238|PMID:20057903|PMID:20375334|PMID:20381869|PMID:20927214|PMID:21109774|PMID:21192766|PMID:21269699|PMID:21273940|PMID:2133066|PMID:21330666|PMID:21436265|PMID:21467170|PMID:21473666|PMID:2162627|PMID:21738390|PMID:21809908|PMID:21825197|PMID:21878505|PMID:22162627|PMID:22183385|PMID:22422030|PMID:23213274|PMID:23290749|PMID:23617333|PMID:23825107|PMID:23880862|PMID:24033266|PMID:24560797|PMID:25082885|PMID:25174897|PMID:25489231|PMID:25741868|PMID:25878489|PMID:26200502|PMID:26201355|PMID:26333019|PMID:26418331|PMID:26720466|PMID:27031371|PMID:27078032|PMID:27193166|PMID:27519691|PMID:27764019|PMID:28225368|PMID:28481155|PMID:28492532|PMID:28559085|PMID:28590961|PMID:28687848|PMID:28791410|PMID:29063836|PMID:29068140|PMID:29215532|PMID:29555955|PMID:29668979|PMID:29781975|PMID:29976937|PMID:30498755|PMID:30582078|PMID:30593719|PMID:30718709|PMID:30880907|PMID:31429209|PMID:31456290|PMID:31519547|PMID:31570112|PMID:31814694|PMID:32207364|PMID:33039401|PMID:33546218|PMID:34012682|PMID:838599|PMID:9536098|PMID:9662395|PMID:9700209 8931485 Best1 bestrophin 1 gene DOID:9005725 Iron Overload ISO RGD:1323228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Iron Overload PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 8931485 Best1 bestrophin 1 gene DOID:9006072 Neurodegeneration with Brain Iron Accumulation 9 ISO RGD:1323228 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9 PMID:37660254 8931485 Best1 bestrophin 1 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1323228 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:10854112|PMID:16754206|PMID:18179881|PMID:21192766|PMID:21273940|PMID:21330666|PMID:21809908|PMID:21825197|PMID:23290749|PMID:25741868|PMID:26200502|PMID:26333019|PMID:27519691|PMID:28492532|PMID:30718709|PMID:33546218 8931510 Plekhm3 pleckstrin homology domain containing M3 gene DOID:14557 primary pulmonary hypertension ISO RGD:2292191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8931510 Plekhm3 pleckstrin homology domain containing M3 gene DOID:630 genetic disease ISO RGD:2292191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931510 Plekhm3 pleckstrin homology domain containing M3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2292191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:0060017 CD3epsilon deficiency ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1352647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:0080690 RASopathy ISO RGD:1352647 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:0081330 glycogen storage disease Ib ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:0110651 long QT syndrome 10 ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:0111971 immunodeficiency 18 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:0111972 immunodeficiency 19 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:0111973 immunodeficiency 17 ISO RGD:1352647 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:1059 intellectual disability ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:10652 Alzheimer's disease ISO RGD:1352647 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:630 genetic disease ISO RGD:1352647 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8931531 Atp5mg ATP synthase membrane subunit g gene DOID:9007661 Dwarfism ISO RGD:1352647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8931538 Resf1 retroelement silencing factor 1 gene DOID:630 genetic disease ISO RGD:1605655 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931552 Ctsv cathepsin V gene DOID:1059 intellectual disability ISO RGD:1344069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8931552 Ctsv cathepsin V gene DOID:630 genetic disease ISO RGD:1344069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931564 Atg4a autophagy related 4A cysteine peptidase gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1604759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8931564 Atg4a autophagy related 4A cysteine peptidase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8931564 Atg4a autophagy related 4A cysteine peptidase gene DOID:0110034 X-linked Alport syndrome ISO RGD:1604759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome 8931564 Atg4a autophagy related 4A cysteine peptidase gene DOID:12849 autistic disorder ISO RGD:1604759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8931564 Atg4a autophagy related 4A cysteine peptidase gene DOID:630 genetic disease ISO RGD:1604759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931583 Acsm5 acyl-CoA synthetase medium chain family member 5 gene DOID:630 genetic disease ISO RGD:1603027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931610 Edn3 endothelin 3 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:19556619|PMID:24033266|PMID:28492532|PMID:8696331 8931610 Edn3 endothelin 3 gene DOID:0110954 Waardenburg syndrome type 4B ISO RGD:1344952 D RGD:7240710 20240313 OMIM 8931610 Edn3 endothelin 3 gene DOID:0110954 Waardenburg syndrome type 4B ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4B PMID:11303518|PMID:19556619|PMID:19764030|PMID:20583152|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8630503|PMID:8696331|PMID:9359047|PMID:9587491 8931610 Edn3 endothelin 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8931610 Edn3 endothelin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1344952 D RGD:7240710 20240313 OMIM 8931610 Edn3 endothelin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10231870|PMID:14633923|PMID:19556619|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:8696331|PMID:9359047|PMID:9587491 8931610 Edn3 endothelin 3 gene DOID:10763 hypertension ISO RGD:1344952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2059916 8931610 Edn3 endothelin 3 gene DOID:630 genetic disease ISO RGD:1344952 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:28492532 8931610 Edn3 endothelin 3 gene DOID:9000166 Intrinsic Sleep Disorders ISO RGD:1344952 D RGD:9068941 20200609 RGD congenital central hypoventilation syndrome (CCHS), OMIM:209880;DNA:insertion:exon PMID:8696331|REF_RGD_ID:1601002 8931610 Edn3 endothelin 3 gene DOID:9005027 Waardenburg Syndrome Type 4 ISO RGD:1344952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17516928|PMID:8630502|PMID:8630503 8931610 Edn3 endothelin 3 gene DOID:9006024 Hypotension ISO RGD:1344952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1309933|PMID:7982458 8931610 Edn3 endothelin 3 gene DOID:9007001 Bradycardia ISO RGD:1344952 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1309933 8931610 Edn3 endothelin 3 gene DOID:9258 Waardenburg syndrome ISO RGD:1344952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome 8931621 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1352659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8931621 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:1059 intellectual disability ISO RGD:1352659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8931621 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8931621 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:2746 glycogen storage disease V ISO RGD:1352659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8931621 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:630 genetic disease ISO RGD:1352659 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931621 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352659 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8931621 Cnih2 cornichon family AMPA receptor auxiliary protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8931635 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:732339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8931635 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:305 carcinoma ISO RGD:732339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8931635 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:3347 osteosarcoma ISO RGD:732339 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34508303 8931635 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:732339 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8931635 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:630 genetic disease ISO RGD:732339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931635 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8931635 Ptbp1 polypyrimidine tract binding protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:732339 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8931662 Adam32 ADAM metallopeptidase domain 32 gene DOID:630 genetic disease ISO RGD:1345583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931695 Kctd16 potassium channel tetramerization domain containing 16 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8931695 Kctd16 potassium channel tetramerization domain containing 16 gene DOID:630 genetic disease ISO RGD:1320838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931695 Kctd16 potassium channel tetramerization domain containing 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8931695 Kctd16 potassium channel tetramerization domain containing 16 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:0050576 Senior-Loken syndrome ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:735623 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:0080600 COVID-19 ISO RGD:735623 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:0080918 polymicrogyria ISO RGD:735623 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Polymicrogyria PMID:22729224|PMID:23745724|PMID:24705253|PMID:25741868|PMID:28492532|PMID:28969385|PMID:29286531|PMID:29758562|PMID:33176815 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:735623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729223 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:735623 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:28492532 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:10283 prostate cancer severity ISO RGD:735623 D RGD:9068941 20200609 RGD DNA:SNP: :rs2125230 (human) PMID:22546513|REF_RGD_ID:13504678 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:11372 megacolon ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:1540 parathyroid carcinoma ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:219 colon cancer treatment ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:20811704|REF_RGD_ID:13209140 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:20638364|REF_RGD_ID:13504677 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:2725 capillary hemangioma ISO RGD:735623 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Capillary hemangioma PMID:22729224|PMID:23745724|PMID:24705253|PMID:25741868|PMID:28492532|PMID:28969385|PMID:29286531|PMID:29758562|PMID:33176815 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:3068 glioblastoma disease_progression ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:27422127|REF_RGD_ID:13674164 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:3069 malignant astrocytoma severity ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:20167810|REF_RGD_ID:13674163 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735623 D RGD:9068941 20200609 RGD PMID:19846969|REF_RGD_ID:13432583 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:735623 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:27919956|REF_RGD_ID:13451128 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:735623 D RGD:9068941 20200609 RGD DNA:missense mutation:exon, intron:multiple PMID:23378641|REF_RGD_ID:13503319 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:735623 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22729224|PMID:23745724|PMID:24705253|PMID:25741868|PMID:28492532|PMID:28969385|PMID:29286531|PMID:29758562|PMID:33176815 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:735623 D RGD:7240710 20180130 OMIM 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:735623 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:17576681|PMID:18813315|PMID:22500628|PMID:22729223|PMID:22729224|PMID:23745724|PMID:24705253|PMID:25087610|PMID:25416470|PMID:25523067|PMID:25741868|PMID:28086757|PMID:28492532|PMID:28969385|PMID:29286531|PMID:29758562|PMID:31471318|PMID:33176815|PMID:34170046|PMID:9536098 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:735623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729224 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome PMID:22729224|PMID:23745724|PMID:25416470|PMID:25523067|PMID:28086757 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:9003816 Macrocephaly ISO RGD:735623 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:22729224|PMID:23745724|PMID:24705253|PMID:25741868|PMID:28492532|PMID:28969385|PMID:29286531|PMID:29758562|PMID:33176815 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:735623 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:17576681|PMID:20835237|PMID:22190896|PMID:25640679|PMID:25741868|PMID:28492532|PMID:9536098 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:735623 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22729224|PMID:23745724|PMID:24705253|PMID:25741868|PMID:28492532|PMID:28969385|PMID:29286531|PMID:29758562|PMID:33176815 8931736 Akt3 AKT serine/threonine kinase 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8931760 Nhlh2 nescient helix-loop-helix 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 8931760 Nhlh2 nescient helix-loop-helix 2 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1317985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868|PMID:35066646 8931760 Nhlh2 nescient helix-loop-helix 2 gene DOID:1921 Klinefelter syndrome ISO RGD:1317985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868|PMID:35066646 8931760 Nhlh2 nescient helix-loop-helix 2 gene DOID:630 genetic disease ISO RGD:1317985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931760 Nhlh2 nescient helix-loop-helix 2 gene DOID:9006791 Hypogonadotropic Hypogonadism 27 without Anosmia ISO RGD:1317985 D RGD:7240710 20220223 OMIM 8931760 Nhlh2 nescient helix-loop-helix 2 gene DOID:9006791 Hypogonadotropic Hypogonadism 27 without Anosmia ISO RGD:1317985 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia PMID:25741868|PMID:35066646 8931760 Nhlh2 nescient helix-loop-helix 2 gene DOID:9970 obesity ISO RGD:1317985 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20808804 8931768 Iws1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W ISO RGD:1604340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W PMID:28492532 8931768 Iws1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:0111220 centronuclear myopathy 2 ISO RGD:1604340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 8931768 Iws1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1604340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8931768 Iws1 interacts with SUPT6H, CTD assembly factor 1 gene DOID:630 genetic disease ISO RGD:1604340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931799 Rps29 ribosomal protein S29 gene DOID:0111889 Diamond-Blackfan anemia 13 ISO RGD:734258 D RGD:7240710 20180130 OMIM 8931799 Rps29 ribosomal protein S29 gene DOID:0111889 Diamond-Blackfan anemia 13 ISO RGD:734258 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 PMID:24829207|PMID:25741868|PMID:28492532 8931799 Rps29 ribosomal protein S29 gene DOID:630 genetic disease ISO RGD:734258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931799 Rps29 ribosomal protein S29 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:734258 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8931799 Rps29 ribosomal protein S29 gene DOID:9562 primary ciliary dyskinesia ISO RGD:734258 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8931810 Nob1 NIN1 (RPN12) binding protein 1 homolog gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8931810 Nob1 NIN1 (RPN12) binding protein 1 homolog gene DOID:630 genetic disease ISO RGD:1603053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931810 Nob1 NIN1 (RPN12) binding protein 1 homolog gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:735222 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea PMID:21219967|REF_RGD_ID:10766449 8931821 Hells helicase, lymphoid specific gene DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 ISO RGD:1346644 D RGD:7240710 20190315 OMIM 8931821 Hells helicase, lymphoid specific gene DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 ISO RGD:1346644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 PMID:21596365|PMID:25741868|PMID:26216346|PMID:28492532 8931821 Hells helicase, lymphoid specific gene DOID:11612 polycystic ovary syndrome ISO RGD:1346644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8931821 Hells helicase, lymphoid specific gene DOID:3070 high grade glioma severity ISO RGD:1346644 D RGD:9068941 20200609 RGD PMID:28042322|REF_RGD_ID:13702468 8931821 Hells helicase, lymphoid specific gene DOID:3910 lung adenocarcinoma ISO RGD:1346644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8931821 Hells helicase, lymphoid specific gene DOID:630 genetic disease ISO RGD:1346644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8931821 Hells helicase, lymphoid specific gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8931821 Hells helicase, lymphoid specific gene DOID:9002644 Premature Aging ISO RGD:1616865 D RGD:9068941 20200609 RGD PMID:15105378|REF_RGD_ID:10402190 8931821 Hells helicase, lymphoid specific gene DOID:9006205 Animal Disease Models ISO RGD:1346644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8931849 Sntb2 syntrophin beta 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8931849 Sntb2 syntrophin beta 2 gene DOID:630 genetic disease ISO RGD:1318541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931860 Epc1 enhancer of polycomb homolog 1 gene DOID:630 genetic disease ISO RGD:1314407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931860 Epc1 enhancer of polycomb homolog 1 gene DOID:9002514 Neointima treatment ISO RGD:1314408 D RGD:9068941 20200609 RGD PMID:22398275|REF_RGD_ID:9587795 8931886 Mtch2 mitochondrial carrier 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1317645 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8931886 Mtch2 mitochondrial carrier 2 gene DOID:0080600 COVID-19 ISO RGD:1317645 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8931886 Mtch2 mitochondrial carrier 2 gene DOID:1059 intellectual disability ISO RGD:1317645 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8931886 Mtch2 mitochondrial carrier 2 gene DOID:630 genetic disease ISO RGD:1317645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931886 Mtch2 mitochondrial carrier 2 gene DOID:9970 obesity ISO RGD:1317645 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 8931909 Isg20 interferon stimulated exonuclease gene 20 gene DOID:2717 Bloom syndrome ISO RGD:1315002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8931909 Isg20 interferon stimulated exonuclease gene 20 gene DOID:630 genetic disease ISO RGD:1315002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931909 Isg20 interferon stimulated exonuclease gene 20 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8931909 Isg20 interferon stimulated exonuclease gene 20 gene DOID:9256 colorectal cancer ISO RGD:1315002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8931922 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:1059 intellectual disability ISO RGD:1606875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8931922 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:12450 pancytopenia ISO RGD:1606875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:25741868|PMID:29987015 8931922 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1606875 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30879219 8931922 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:4961 bone marrow disease ISO RGD:1606875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868|PMID:29987015 8931922 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1606875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:24507776|PMID:25741868|PMID:27185855|PMID:28492532|PMID:29146883|PMID:29987015 8931922 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:630 genetic disease ISO RGD:1606875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8931922 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:1606875 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8931922 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:9007049 Bone Marrow Failure Syndrome 2 ISO RGD:1606875 D RGD:7240710 20180130 OMIM 8931922 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:9007049 Bone Marrow Failure Syndrome 2 ISO RGD:1606875 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 2 | ClinVar Annotator: match by term: ERCC6L2-related condition PMID:24507776|PMID:25741868|PMID:27185855|PMID:28492532|PMID:29146883|PMID:29987015|PMID:37149759 8931922 Ercc6l2 ERCC excision repair 6 like 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606875 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24507776|PMID:25741868|PMID:27185855|PMID:28492532|PMID:29146883|PMID:29987015|PMID:37149759 8931945 Dad1 defender against cell death 1 gene DOID:630 genetic disease ISO RGD:1350029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931945 Dad1 defender against cell death 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350029 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8931952 Slc25a48 solute carrier family 25 member 48 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601716 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8931952 Slc25a48 solute carrier family 25 member 48 gene DOID:630 genetic disease ISO RGD:1601716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8931952 Slc25a48 solute carrier family 25 member 48 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8931952 Slc25a48 solute carrier family 25 member 48 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601716 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8931988 Bag3 BAG cochaperone 3 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:21898660|PMID:23861362|PMID:25741868|PMID:28492532|PMID:29382405|PMID:30615648|PMID:33658040|PMID:34426522 8931988 Bag3 BAG cochaperone 3 gene DOID:0050700 cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28166811|PMID:28492532 8931988 Bag3 BAG cochaperone 3 gene DOID:0050700 cardiomyopathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:21459883|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27042682|PMID:28492532 8931988 Bag3 BAG cochaperone 3 gene DOID:0050700 cardiomyopathy ISO RGD:1317192 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:21353195|PMID:21361913|PMID:21459883|PMID:23582692|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26512958|PMID:27042682|PMID:28087566|PMID:28492532|PMID:30847666|PMID:31983221|PMID:35026164|PMID:35732239 8931988 Bag3 BAG cochaperone 3 gene DOID:0060224 atrial fibrillation ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:24033266|PMID:25741868|PMID:28492532 8931988 Bag3 BAG cochaperone 3 gene DOID:0060480 left ventricular noncompaction ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:21353195|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28254189|PMID:28492532|PMID:30847666 8931988 Bag3 BAG cochaperone 3 gene DOID:0080097 myofibrillar myopathy 6 ISO RGD:1317192 D RGD:7240710 20180130 OMIM 8931988 Bag3 BAG cochaperone 3 gene DOID:0080097 myofibrillar myopathy 6 ISO RGD:1317192 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BAG3-related condition | ClinVar Annotator: match by term: Myofibrillar myopathy 6 | ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related PMID:16199547|PMID:17576681|PMID:19085932|PMID:20301672|PMID:20605452|PMID:21353195|PMID:21361913|PMID:21459883|PMID:2159883|PMID:21676617|PMID:21898660|PMID:22337857|PMID:22734908|PMID:23582692|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25448463|PMID:25617006|PMID:25640679|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26272908|PMID:26383716|PMID:26392352|PMID:26467025|PMID:26512958|PMID:26545904|PMID:26899768|PMID:27042682|PMID:27164712|PMID:27321750|PMID:27443559|PMID:27896284|PMID:28087566|PMID:28224639|PMID:28254189|PMID:28359509|PMID:28416588|PMID:28436997|PMID:28492532|PMID:28611029|PMID:28669108|PMID:28704380|PMID:28737513|PMID:28750076|PMID:28754666|PMID:28798025|PMID:29016939|PMID:29029362|PMID:29247119|PMID:29338979|PMID:29382405|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30061062|PMID:30140897|PMID:30145633|PMID:30373780|PMID:30377383|PMID:30384889|PMID:30442290|PMID:30559338|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31333075|PMID:31395899|PMID:31514951|PMID:31568572|PMID:31723063|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32160020|PMID:32458740|PMID:32472079|PMID:32746448|PMID:32859500|PMID:33146414|PMID:33500567|PMID:33658040|PMID:33874732|PMID:33917638|PMID:34036930|PMID:34117258|PMID:34213952|PMID:34426522|PMID:35026164|PMID:35029900|PMID:35290091|PMID:35732239|PMID:36382946|PMID:9536098 8931988 Bag3 BAG cochaperone 3 gene DOID:0080307 myofibrillar myopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:21361913|PMID:21898660|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8931988 Bag3 BAG cochaperone 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317192 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:31395899|PMID:33874732 8931988 Bag3 BAG cochaperone 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317192 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:31395899 8931988 Bag3 BAG cochaperone 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317192 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:31395899|PMID:33874732 8931988 Bag3 BAG cochaperone 3 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1317192 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:21353195|PMID:24033266|PMID:25741868|PMID:28436997|PMID:28492532|PMID:28669108|PMID:32160020 8931988 Bag3 BAG cochaperone 3 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:21353195|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28669108 8931988 Bag3 BAG cochaperone 3 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1317192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:21459883|PMID:24033266|PMID:24558114|PMID:25008357|PMID:25448463|PMID:25741868|PMID:28436997|PMID:28492532|PMID:32160020|PMID:34213952 8931988 Bag3 BAG cochaperone 3 gene DOID:0110448 dilated cardiomyopathy 1HH ISO RGD:1317192 D RGD:7240710 20180130 OMIM 8931988 Bag3 BAG cochaperone 3 gene DOID:0110448 dilated cardiomyopathy 1HH ISO RGD:1317192 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH PMID:17576681|PMID:19085932|PMID:20301672|PMID:20605452|PMID:21353195|PMID:21361913|PMID:21459883|PMID:2159883|PMID:21676617|PMID:21898660|PMID:22337857|PMID:22734908|PMID:23582692|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25448463|PMID:25617006|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26272908|PMID:26392352|PMID:26467025|PMID:26512958|PMID:26545904|PMID:26899768|PMID:27042682|PMID:27164712|PMID:27321750|PMID:27443559|PMID:27896284|PMID:28087566|PMID:28224639|PMID:28254189|PMID:28359509|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28750076|PMID:28754666|PMID:28798025|PMID:29016939|PMID:29029362|PMID:29338979|PMID:29382405|PMID:29892087|PMID:30012837|PMID:30061062|PMID:30140897|PMID:30145633|PMID:30373780|PMID:30377383|PMID:30384889|PMID:30442290|PMID:30559338|PMID:30615648|PMID:30847666|PMID:31333075|PMID:31395899|PMID:31514951|PMID:31568572|PMID:31723063|PMID:31931689|PMID:31983221|PMID:32160020|PMID:32458740|PMID:32746448|PMID:33146414|PMID:33500567|PMID:33658040|PMID:33874732|PMID:33917638|PMID:34036930|PMID:34117258|PMID:34213952|PMID:34426522|PMID:35026164|PMID:35029900|PMID:35290091|PMID:35732239|PMID:36382946|PMID:9536098 8931988 Bag3 BAG cochaperone 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1317192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:28492532 8931988 Bag3 BAG cochaperone 3 gene DOID:11832 visual epilepsy ISO RGD:1307794 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, astrocyte PMID:12085992|REF_RGD_ID:2325847 8931988 Bag3 BAG cochaperone 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8931988 Bag3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:31333075|PMID:31568572 8931988 Bag3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:31333075|PMID:31568572|PMID:34213952 8931988 Bag3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572|PMID:34213952 8931988 Bag3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:27042682|PMID:27896284|PMID:28166811|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30442290|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32458740|PMID:34213952 8931988 Bag3 BAG cochaperone 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317192 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21353195|PMID:21459883|PMID:2159883|PMID:21898660|PMID:22337857|PMID:23861362|PMID:24033266|PMID:24558114|PMID:24623017|PMID:25008357|PMID:25448463|PMID:25728519|PMID:25741868|PMID:25925243|PMID:26467025|PMID:26512958|PMID:27042682|PMID:27896284|PMID:28436997|PMID:28492532|PMID:28669108|PMID:28737513|PMID:28798025|PMID:30012837|PMID:30442290|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32458740|PMID:34213952 8931988 Bag3 BAG cochaperone 3 gene DOID:1793 pancreatic cancer ISO RGD:1317192 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11513873|REF_RGD_ID:2325843 8931988 Bag3 BAG cochaperone 3 gene DOID:2843 long QT syndrome ISO RGD:1317192 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25617006|PMID:26512958|PMID:28492532 8931988 Bag3 BAG cochaperone 3 gene DOID:3068 glioblastoma treatment ISO RGD:1307794 D RGD:9068941 20200609 RGD PMID:21561597|REF_RGD_ID:5687132 8931988 Bag3 BAG cochaperone 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1317192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17187345 8931988 Bag3 BAG cochaperone 3 gene DOID:574 peripheral nervous system disease ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19085932|PMID:20301672|PMID:20605452|PMID:21361913|PMID:21676617|PMID:21898660|PMID:22734908|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25728519|PMID:25741868|PMID:26545904|PMID:27164712|PMID:27321750|PMID:27443559|PMID:28224639|PMID:28492532|PMID:29338979|PMID:30061062|PMID:30145633|PMID:30384889|PMID:33146414|PMID:34117258|PMID:35029900 8931988 Bag3 BAG cochaperone 3 gene DOID:630 genetic disease ISO RGD:1317192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8931988 Bag3 BAG cochaperone 3 gene DOID:820 myocarditis ISO RGD:1317192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myocarditis PMID:21459883|PMID:24033266|PMID:24558114|PMID:25008357|PMID:25448463|PMID:25741868|PMID:28492532|PMID:34213952 8931988 Bag3 BAG cochaperone 3 gene DOID:870 neuropathy ISO RGD:1317192 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:19085932|PMID:20301672|PMID:20605452|PMID:21361913|PMID:21676617|PMID:21898660|PMID:22734908|PMID:25208129|PMID:25273835|PMID:25326635|PMID:25728519|PMID:25741868|PMID:26545904|PMID:27164712|PMID:27321750|PMID:27443559|PMID:28224639|PMID:28492532|PMID:29338979|PMID:30061062|PMID:30145633|PMID:30384889|PMID:33146414|PMID:34117258|PMID:35029900 8931988 Bag3 BAG cochaperone 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1307794 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, astrocyte PMID:12061864|REF_RGD_ID:2325848 8931988 Bag3 BAG cochaperone 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1317192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:25741868|PMID:28492532 8931997 Chchd7 coiled-coil-helix-coiled-coil-helix domain containing 7 gene DOID:630 genetic disease ISO RGD:1347837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932007 Deaf1 DEAF1 transcription factor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8932007 Deaf1 DEAF1 transcription factor gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:731970 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8932007 Deaf1 DEAF1 transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:731970 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders | ClinVar Annotator: match by term: Autism, susceptiblity to PMID:25741868|PMID:28492532|PMID:30763456|PMID:30923367|PMID:32094338 8932007 Deaf1 DEAF1 transcription factor gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:731970 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 8932007 Deaf1 DEAF1 transcription factor gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:731970 D RGD:7240710 20180130 OMIM 8932007 Deaf1 DEAF1 transcription factor gene DOID:0070054 Vulto-van Silfout-de Vries syndrome ISO RGD:731970 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 24 PMID:11690625|PMID:21076407|PMID:23020937|PMID:24726472|PMID:25326635|PMID:25741868|PMID:26048982|PMID:26467025|PMID:28213671|PMID:28492532|PMID:28940898|PMID:30923367|PMID:32959227|PMID:33705764 8932007 Deaf1 DEAF1 transcription factor gene DOID:0080773 delta beta-thalassemia ISO RGD:731970 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8932007 Deaf1 DEAF1 transcription factor gene DOID:0111969 immunodeficiency 39 ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8932007 Deaf1 DEAF1 transcription factor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8932007 Deaf1 DEAF1 transcription factor gene DOID:10283 prostate cancer ISO RGD:731970 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 8932007 Deaf1 DEAF1 transcription factor gene DOID:1059 intellectual disability ISO RGD:731970 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:28714951|PMID:31785789|PMID:31981491|PMID:35231114 8932007 Deaf1 DEAF1 transcription factor gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25741868|PMID:28492532 8932007 Deaf1 DEAF1 transcription factor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8932007 Deaf1 DEAF1 transcription factor gene DOID:630 genetic disease ISO RGD:731970 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24668509|PMID:24726472|PMID:25741868|PMID:26467025|PMID:26795593|PMID:26834045|PMID:28213671|PMID:28492532|PMID:28588821|PMID:28714951|PMID:28940898|PMID:30923367|PMID:31785789|PMID:31981491|PMID:33726816|PMID:35231114|PMID:9697411 8932007 Deaf1 DEAF1 transcription factor gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8932007 Deaf1 DEAF1 transcription factor gene DOID:9007457 Dyskinesias, Seizures, and Intellectual Developmental Disorder ISO RGD:731970 D RGD:7240710 20190315 OMIM 8932007 Deaf1 DEAF1 transcription factor gene DOID:9007457 Dyskinesias, Seizures, and Intellectual Developmental Disorder ISO RGD:731970 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DEAF1-Related Disorder | ClinVar Annotator: match by term: DEAF1-related condition | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder PMID:11690625|PMID:17576681|PMID:24668509|PMID:24726472|PMID:25741868|PMID:26048982|PMID:26467025|PMID:26795593|PMID:26834045|PMID:28492532|PMID:28940898|PMID:30923367|PMID:31688097|PMID:31929336|PMID:32094338|PMID:9536098 8932007 Deaf1 DEAF1 transcription factor gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:731970 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hapsburg jaw PMID:25741868|PMID:28492532 8932007 Deaf1 DEAF1 transcription factor gene DOID:9008582 Developmental Disease ISO RGD:731970 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532|PMID:30923367 8932007 Deaf1 DEAF1 transcription factor gene DOID:9970 obesity ISO RGD:731970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:28492532 8932024 Mindy2 MINDY lysine 48 deubiquitinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1607025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8932024 Mindy2 MINDY lysine 48 deubiquitinase 2 gene DOID:630 genetic disease ISO RGD:1607025 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932024 Mindy2 MINDY lysine 48 deubiquitinase 2 gene DOID:9256 colorectal cancer ISO RGD:1607025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8932036 Tex2 testis expressed 2 gene DOID:0080600 COVID-19 ISO RGD:1603633 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8932036 Tex2 testis expressed 2 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1603633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 8932036 Tex2 testis expressed 2 gene DOID:630 genetic disease ISO RGD:1603633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932060 Srf serum response factor gene DOID:0050444 infantile Refsum disease ISO RGD:1321393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8932060 Srf serum response factor gene DOID:0050700 cardiomyopathy ISO RGD:1321393 D RGD:9068941 20200609 RGD PMID:12874181|REF_RGD_ID:1581473 8932060 Srf serum response factor gene DOID:10763 hypertension ISO RGD:1559787 D RGD:9068941 20200609 RGD PMID:16822834|REF_RGD_ID:1580749 8932060 Srf serum response factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1321394 D RGD:9068941 20200609 RGD PMID:16260633|REF_RGD_ID:1580754 8932060 Srf serum response factor gene DOID:12930 dilated cardiomyopathy ISO RGD:1321394 D RGD:9068941 20220825 MouseDO 8932060 Srf serum response factor gene DOID:14566 disease of cellular proliferation ISO RGD:1321393 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17116645 8932060 Srf serum response factor gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1321393 D RGD:9068941 20200609 RGD PMID:12654640|REF_RGD_ID:1580753 8932060 Srf serum response factor gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1321394 D RGD:9068941 20200609 RGD PMID:12654640|REF_RGD_ID:1580753 8932060 Srf serum response factor gene DOID:4989 pancreatitis ISO RGD:1321394 D RGD:9068941 20200609 RGD PMID:16894357|REF_RGD_ID:1581427 8932060 Srf serum response factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1321393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8932060 Srf serum response factor gene DOID:6000 congestive heart failure ISO RGD:1321393 D RGD:9068941 20200609 RGD mRNA, protein:splice variant:heart PMID:11893590|REF_RGD_ID:1581426 8932060 Srf serum response factor gene DOID:630 genetic disease ISO RGD:1321393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932060 Srf serum response factor gene DOID:684 hepatocellular carcinoma ISO RGD:1559787 D RGD:9068941 20200609 RGD PMID:9570363|REF_RGD_ID:1581428 8932060 Srf serum response factor gene DOID:9000469 Viral Myocarditis severity ISO RGD:1321394 D RGD:9068941 20231026 RGD mRNA:increased expression:heart (mouse) PMID:25998987|REF_RGD_ID:401850594 8932060 Srf serum response factor gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1321394 D RGD:9068941 20200609 RGD PMID:15569937|REF_RGD_ID:1581424 8932060 Srf serum response factor gene DOID:9003936 Cardiomegaly ISO RGD:1321393 D RGD:9068941 20200609 RGD PMID:12909581|REF_RGD_ID:1581425 8932060 Srf serum response factor gene DOID:905 Zellweger syndrome ISO RGD:1321393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8932072 Gpr31 G protein-coupled receptor 31 gene DOID:630 genetic disease ISO RGD:1313066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932076 Cryab crystallin alpha B gene DOID:0050537 posterior polar cataract ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polar cataract 8932076 Cryab crystallin alpha B gene DOID:0050700 cardiomyopathy ISO RGD:737518 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26694549|PMID:26961874|PMID:28492532|PMID:29544605|PMID:31215171 8932076 Cryab crystallin alpha B gene DOID:0050700 cardiomyopathy ISO RGD:737518 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:17576681|PMID:20171888|PMID:21920752|PMID:22106715|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26694549|PMID:26961874|PMID:28492532|PMID:29544605|PMID:9536098 8932076 Cryab crystallin alpha B gene DOID:0050700 cardiomyopathy ISO RGD:737518 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:17576681|PMID:18587492|PMID:20171888|PMID:21920752|PMID:22106715|PMID:2299599|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26694549|PMID:26961874|PMID:27896284|PMID:28492532|PMID:28518168|PMID:28640093|PMID:28919577|PMID:29544605|PMID:31215171|PMID:32110827|PMID:32420686|PMID:33834702|PMID:33906374|PMID:34237397|PMID:34426522|PMID:34983005|PMID:35531184|PMID:9536098 8932076 Cryab crystallin alpha B gene DOID:0080093 myofibrillar myopathy 2 ISO RGD:737518 D RGD:7240710 20180130 OMIM 8932076 Cryab crystallin alpha B gene DOID:0080093 myofibrillar myopathy 2 ISO RGD:737518 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 2 PMID:11013455|PMID:12601044|PMID:12812987|PMID:14681890|PMID:16483541|PMID:19282282|PMID:20301672|PMID:21130652|PMID:21337604|PMID:21920752|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25741868|PMID:25961584|PMID:26265630|PMID:26467025|PMID:26542570|PMID:26961874|PMID:27226619|PMID:28492532|PMID:28798025|PMID:31127727|PMID:32013205|PMID:32420686|PMID:32430163|PMID:570292|PMID:8000975|PMID:9731540 8932076 Cryab crystallin alpha B gene DOID:0080307 myofibrillar myopathy ISO RGD:737518 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:2299599|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26467025|PMID:26694549|PMID:26961874|PMID:27896284|PMID:28492532|PMID:28518168|PMID:28690483|PMID:28919577|PMID:32420686|PMID:34237397|PMID:34983005 8932076 Cryab crystallin alpha B gene DOID:0080309 fatal infantile hypertonic myofibrillar myopathy ISO RGD:737518 D RGD:7240710 20180620 OMIM 8932076 Cryab crystallin alpha B gene DOID:0080309 fatal infantile hypertonic myofibrillar myopathy ISO RGD:737518 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy | ClinVar Annotator: match by term: MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED PMID:11013455|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:19282282|PMID:20171888|PMID:21920752|PMID:22106715|PMID:2299599|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26467025|PMID:26694549|PMID:26961874|PMID:27896284|PMID:28492532|PMID:28518168|PMID:28690483|PMID:28798025|PMID:28919577|PMID:32420686|PMID:34237397|PMID:34983005 8932076 Cryab crystallin alpha B gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:737518 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:2299599|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:27896284|PMID:28492532|PMID:28518168|PMID:28919577|PMID:32420686|PMID:34237397|PMID:34983005 8932076 Cryab crystallin alpha B gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8932076 Cryab crystallin alpha B gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 8932076 Cryab crystallin alpha B gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:737518 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8932076 Cryab crystallin alpha B gene DOID:0110250 cataract 16 multiple types ISO RGD:737518 D RGD:7240710 20180130 OMIM 8932076 Cryab crystallin alpha B gene DOID:0110250 cataract 16 multiple types ISO RGD:737518 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CATARACT, CONGENITAL LAMELLAR | ClinVar Annotator: match by term: Cataract 16 multiple types PMID:11013455|PMID:11577372|PMID:1560021|PMID:16483541|PMID:16505043|PMID:16793013|PMID:16877416|PMID:17116488|PMID:19282282|PMID:19461931|PMID:20141356|PMID:20171888|PMID:21920752|PMID:22106715|PMID:2299599|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26265630|PMID:26467025|PMID:26694549|PMID:26961874|PMID:27896284|PMID:28492532|PMID:28518168|PMID:28690483|PMID:28798025|PMID:28919577|PMID:32420686|PMID:34237397|PMID:34983005 8932076 Cryab crystallin alpha B gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:737518 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:2299599|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:27896284|PMID:28492532|PMID:28518168|PMID:28919577|PMID:32420686|PMID:34237397|PMID:34983005 8932076 Cryab crystallin alpha B gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:737518 D RGD:7240710 20180130 OMIM 8932076 Cryab crystallin alpha B gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:737518 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:11013455|PMID:14681890|PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:17576681|PMID:18587492|PMID:19282282|PMID:19461931|PMID:19597569|PMID:20141356|PMID:20171888|PMID:20301672|PMID:21087083|PMID:21130652|PMID:21337604|PMID:21520333|PMID:21866213|PMID:21920752|PMID:22106715|PMID:2299599|PMID:22995991|PMID:23194663|PMID:23197161|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25214167|PMID:25741868|PMID:26265630|PMID:26402864|PMID:26467025|PMID:26627873|PMID:26694549|PMID:26961874|PMID:27226619|PMID:27260392|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28493373|PMID:28518168|PMID:28640093|PMID:28690483|PMID:28798025|PMID:28919577|PMID:29544605|PMID:30847666|PMID:31127727|PMID:31215171|PMID:31678106|PMID:31983221|PMID:32013205|PMID:32110827|PMID:32420686|PMID:32430163|PMID:32573669|PMID:32880476|PMID:33834702|PMID:33906374|PMID:34237397|PMID:34426522|PMID:34983005|PMID:35531184|PMID:9536098 8932076 Cryab crystallin alpha B gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:737518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:21920752|PMID:23194663|PMID:26627873|PMID:28492532|PMID:28493373 8932076 Cryab crystallin alpha B gene DOID:1059 intellectual disability ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8932076 Cryab crystallin alpha B gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737518 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:2299599|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:27896284|PMID:28492532|PMID:28518168|PMID:28919577|PMID:32420686|PMID:34237397|PMID:34983005 8932076 Cryab crystallin alpha B gene DOID:12704 ataxia telangiectasia ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8932076 Cryab crystallin alpha B gene DOID:1289 neurodegenerative disease ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 8932076 Cryab crystallin alpha B gene DOID:12930 dilated cardiomyopathy ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19597569|PMID:26402864|PMID:28492532 8932076 Cryab crystallin alpha B gene DOID:1749 squamous cell carcinoma ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8932076 Cryab crystallin alpha B gene DOID:4448 macular degeneration treatment ISO RGD:2414 D RGD:9068941 20200609 RGD PMID:25483086|REF_RGD_ID:13503350 8932076 Cryab crystallin alpha B gene DOID:4450 renal cell carcinoma ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8932076 Cryab crystallin alpha B gene DOID:6000 congestive heart failure ISO RGD:737518 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:2299599|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:27896284|PMID:28492532|PMID:28518168|PMID:28919577|PMID:32420686|PMID:34237397|PMID:34983005 8932076 Cryab crystallin alpha B gene DOID:630 genetic disease ISO RGD:737518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8932076 Cryab crystallin alpha B gene DOID:83 cataract ISO RGD:737518 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:1560021|PMID:16483541|PMID:16793013|PMID:17116488|PMID:20171888|PMID:21920752|PMID:22106715|PMID:2299599|PMID:22995991|PMID:23194663|PMID:23299917|PMID:24033266|PMID:25208129|PMID:25741868|PMID:26694549|PMID:26961874|PMID:27896284|PMID:28492532|PMID:28518168|PMID:28919577|PMID:32420686|PMID:34237397|PMID:34983005 8932076 Cryab crystallin alpha B gene DOID:9000117 Esophageal Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8932076 Cryab crystallin alpha B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8932076 Cryab crystallin alpha B gene DOID:9002304 Prostatic Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8932076 Cryab crystallin alpha B gene DOID:9002928 Colonic Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8932076 Cryab crystallin alpha B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:737518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8932076 Cryab crystallin alpha B gene DOID:9005873 Tongue Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19840781 8932076 Cryab crystallin alpha B gene DOID:9007102 Myocardial Ischemia ISO RGD:2414 D RGD:9068941 20200609 RGD PMID:11945023|REF_RGD_ID:704398 8932076 Cryab crystallin alpha B gene DOID:9007364 Mouth Neoplasms ISO RGD:737518 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 8932076 Cryab crystallin alpha B gene DOID:9008217 Hemorrhage ISO RGD:2414 D RGD:9068941 20200609 RGD associated with Wounds and Injuries;protein:decreased phosphorylation:heart PMID:17293487|REF_RGD_ID:2303639 8932076 Cryab crystallin alpha B gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:737518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8932083 Tgif2 TGFB induced factor homeobox 2 gene DOID:2234 focal epilepsy ISO RGD:1344249 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8932083 Tgif2 TGFB induced factor homeobox 2 gene DOID:630 genetic disease ISO RGD:1344249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932115 LOC102028688 olfactory receptor 15 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1342915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8932115 LOC102028688 olfactory receptor 15 gene DOID:1826 epilepsy ISO RGD:1342915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8932115 LOC102028688 olfactory receptor 15 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1342915 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8932115 LOC102028688 olfactory receptor 15 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1342915 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8932115 LOC102028688 olfactory receptor 15 gene DOID:630 genetic disease ISO RGD:1342915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932118 Znf260 zinc finger protein 260 gene DOID:630 genetic disease ISO RGD:1606913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932125 Ung uracil DNA glycosylase gene DOID:0060759 immunodeficiency with hyper IgM type 5 ISO RGD:1316252 D RGD:7240710 20180725 OMIM 8932125 Ung uracil DNA glycosylase gene DOID:0060759 immunodeficiency with hyper IgM type 5 ISO RGD:1316252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 PMID:12958596|PMID:15967827|PMID:16199547|PMID:17029639|PMID:17576681|PMID:21167187|PMID:22252118|PMID:22521144|PMID:23545420|PMID:25741868|PMID:28492532|PMID:29546359|PMID:9536098 8932125 Ung uracil DNA glycosylase gene DOID:0080544 hyper IgM syndrome ISO RGD:1316252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8932125 Ung uracil DNA glycosylase gene DOID:11702 dysgammaglobulinemia ISO RGD:1316252 D RGD:9068941 20200609 RGD Hyper-IgM syndrome 5, OMIM:608106 PMID:12958596|REF_RGD_ID:1599705 8932125 Ung uracil DNA glycosylase gene DOID:2717 Bloom syndrome ISO RGD:1316252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2106500 8932125 Ung uracil DNA glycosylase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8932125 Ung uracil DNA glycosylase gene DOID:630 genetic disease ISO RGD:1316252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8932125 Ung uracil DNA glycosylase gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1316252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome 8932125 Ung uracil DNA glycosylase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 8932136 Camk2d calcium/calmodulin dependent protein kinase II delta gene DOID:0060224 atrial fibrillation ISO RGD:736174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8932136 Camk2d calcium/calmodulin dependent protein kinase II delta gene DOID:11612 polycystic ovary syndrome ISO RGD:736174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8932136 Camk2d calcium/calmodulin dependent protein kinase II delta gene DOID:12271 aniridia ISO RGD:736174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 8932136 Camk2d calcium/calmodulin dependent protein kinase II delta gene DOID:1591 renovascular hypertension treatment ISO RGD:2263 D RGD:9068941 20240118 RGD PMID:26619200|REF_RGD_ID:401940196 8932136 Camk2d calcium/calmodulin dependent protein kinase II delta gene DOID:1826 epilepsy ISO RGD:2263 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.24024428G>T (rat) PMID:20638246|REF_RGD_ID:6907065 8932136 Camk2d calcium/calmodulin dependent protein kinase II delta gene DOID:5844 myocardial infarction treatment ISO RGD:2263 D RGD:9068941 20231221 RGD mRNA, protein:splice variants, increased expression:heart left ventricle (rat) PMID:26067684|REF_RGD_ID:11097969 8932136 Camk2d calcium/calmodulin dependent protein kinase II delta gene DOID:630 genetic disease ISO RGD:736174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932136 Camk2d calcium/calmodulin dependent protein kinase II delta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8932136 Camk2d calcium/calmodulin dependent protein kinase II delta gene DOID:9003936 Cardiomegaly treatment ISO RGD:2263 D RGD:9068941 20240118 RGD PMID:26619200|REF_RGD_ID:401940196 8932136 Camk2d calcium/calmodulin dependent protein kinase II delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736174 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 8932136 Camk2d calcium/calmodulin dependent protein kinase II delta gene DOID:9007102 Myocardial Ischemia ISO RGD:736174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8932198 Tbccd1 TBCC domain containing 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1605661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 8932198 Tbccd1 TBCC domain containing 1 gene DOID:630 genetic disease ISO RGD:1605661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932235 Kpna5 karyopherin subunit alpha 5 gene DOID:0060163 body dysmorphic disorder ISO RGD:1343568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8932235 Kpna5 karyopherin subunit alpha 5 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1343568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8932235 Kpna5 karyopherin subunit alpha 5 gene DOID:1059 intellectual disability ISO RGD:1343568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8932235 Kpna5 karyopherin subunit alpha 5 gene DOID:10907 microcephaly ISO RGD:1343568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8932235 Kpna5 karyopherin subunit alpha 5 gene DOID:1826 epilepsy ISO RGD:1343568 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8932235 Kpna5 karyopherin subunit alpha 5 gene DOID:630 genetic disease ISO RGD:1343568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932235 Kpna5 karyopherin subunit alpha 5 gene DOID:9000495 Tremor ISO RGD:1343568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8932235 Kpna5 karyopherin subunit alpha 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343568 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8932253 Foxp2 forkhead box P2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:24356376|REF_RGD_ID:11535982 8932253 Foxp2 forkhead box P2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351861 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8932253 Foxp2 forkhead box P2 gene DOID:0060135 apraxia ISO RGD:1351861 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism PMID:17033973|PMID:27120335 8932253 Foxp2 forkhead box P2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8932253 Foxp2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1351861 D RGD:7240710 20180130 OMIM 8932253 Foxp2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 ISO RGD:1351861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition PMID:11586359|PMID:15877281|PMID:16470794|PMID:16984964|PMID:17033973|PMID:17330859|PMID:20858596|PMID:22105961|PMID:22106036|PMID:22144704|PMID:22434823|PMID:22766611|PMID:2332125|PMID:23918746|PMID:25232744|PMID:25741868|PMID:27336128|PMID:27572252|PMID:27933109|PMID:28492532|PMID:28708303 8932253 Foxp2 forkhead box P2 gene DOID:0111275 speech-language disorder-1 no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P215A (human) PMID:19352412|REF_RGD_ID:11536000 8932253 Foxp2 forkhead box P2 gene DOID:1059 intellectual disability ISO RGD:1351861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8932253 Foxp2 forkhead box P2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs1229761, rs12533005 (human) PMID:22504457|REF_RGD_ID:11535980 8932253 Foxp2 forkhead box P2 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22504457|REF_RGD_ID:11535980 8932253 Foxp2 forkhead box P2 gene DOID:12849 autistic disorder ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108192|PMID:17033973 8932253 Foxp2 forkhead box P2 gene DOID:12849 autistic disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:15737702|REF_RGD_ID:11535991 8932253 Foxp2 forkhead box P2 gene DOID:12849 autistic disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype PMID:15108192|REF_RGD_ID:11535986 8932253 Foxp2 forkhead box P2 gene DOID:12849 autistic disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD PMID:15998549|REF_RGD_ID:11535984 8932253 Foxp2 forkhead box P2 gene DOID:12849 autistic disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:12655497|REF_RGD_ID:11535985 8932253 Foxp2 forkhead box P2 gene DOID:12849 autistic disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:repeat, deletion PMID:12116195|REF_RGD_ID:11536001 8932253 Foxp2 forkhead box P2 gene DOID:14681 Silver-Russell syndrome ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17033973 8932253 Foxp2 forkhead box P2 gene DOID:1470 major depressive disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNP: :rs10447760 (human) PMID:22404659|REF_RGD_ID:11535994 8932253 Foxp2 forkhead box P2 gene DOID:1470 major depressive disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22404659|REF_RGD_ID:11535994 8932253 Foxp2 forkhead box P2 gene DOID:1749 squamous cell carcinoma ISO RGD:1351861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8932253 Foxp2 forkhead box P2 gene DOID:3910 lung adenocarcinoma ISO RGD:1351861 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8932253 Foxp2 forkhead box P2 gene DOID:4186 articulation disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:5' utr:rs1852469, rs2396722 (human) PMID:20923434|REF_RGD_ID:11535989 8932253 Foxp2 forkhead box P2 gene DOID:4186 articulation disorder no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs::rs923875, rs17137124, rs1456031 (human) PMID:20923434|REF_RGD_ID:11535989 8932253 Foxp2 forkhead box P2 gene DOID:4428 dyslexia ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNP: :rs12533005 (human) PMID:21897444|REF_RGD_ID:11535997 8932253 Foxp2 forkhead box P2 gene DOID:4428 dyslexia no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:21897444|REF_RGD_ID:11535997 8932253 Foxp2 forkhead box P2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8932253 Foxp2 forkhead box P2 gene DOID:5419 schizophrenia ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNP: :rs10447760 (human) PMID:22404659|REF_RGD_ID:11535994 8932253 Foxp2 forkhead box P2 gene DOID:5419 schizophrenia ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:16538183|REF_RGD_ID:11535988 8932253 Foxp2 forkhead box P2 gene DOID:5419 schizophrenia no_association ISO RGD:1351861 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22404659|REF_RGD_ID:11535994 8932253 Foxp2 forkhead box P2 gene DOID:630 genetic disease ISO RGD:1351861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15877281|PMID:16984964|PMID:22434823|PMID:25232744|PMID:25741868|PMID:27336128|PMID:27572252|PMID:27933109|PMID:28492532 8932253 Foxp2 forkhead box P2 gene DOID:9001488 Human Influenza ISO RGD:1615752 D RGD:9068941 20200609 RGD PMID:18248790|REF_RGD_ID:11536002 8932253 Foxp2 forkhead box P2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8932253 Foxp2 forkhead box P2 gene DOID:9005466 Language Development Disorders ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27120335 8932253 Foxp2 forkhead box P2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17033973 8932253 Foxp2 forkhead box P2 gene DOID:93 language disorder ISO RGD:1351861 D RGD:9068941 20200609 RGD associated with Schizophrenia;DNA:SNP: :rs2253478 (human) PMID:20649982|REF_RGD_ID:11535993 8932275 Tbc1d13 TBC1 domain family member 13 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8932275 Tbc1d13 TBC1 domain family member 13 gene DOID:630 genetic disease ISO RGD:1318412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932291 Ktn1 kinectin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8932339 Atp6v1g2 ATPase H+ transporting V1 subunit G2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8932339 Atp6v1g2 ATPase H+ transporting V1 subunit G2 gene DOID:11372 megacolon ISO RGD:1347481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8932339 Atp6v1g2 ATPase H+ transporting V1 subunit G2 gene DOID:630 genetic disease ISO RGD:1347481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932356 Sct secretin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8932356 Sct secretin gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:735506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8932356 Sct secretin gene DOID:0080773 delta beta-thalassemia ISO RGD:735506 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8932356 Sct secretin gene DOID:0111969 immunodeficiency 39 ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8932356 Sct secretin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8932356 Sct secretin gene DOID:11612 polycystic ovary syndrome ISO RGD:735506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8932356 Sct secretin gene DOID:12849 autistic disorder ISO RGD:735506 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12732234|PMID:15206007|PMID:15272612|PMID:16168596 8932356 Sct secretin gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8932356 Sct secretin gene DOID:630 genetic disease ISO RGD:735506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932356 Sct secretin gene DOID:899 choledochal cyst ISO RGD:735506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 8932356 Sct secretin gene DOID:9002554 Tachycardia ISO RGD:735506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2103752 8932356 Sct secretin gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:735506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8932363 Ccdc81 coiled-coil domain containing 81 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1605353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 8932363 Ccdc81 coiled-coil domain containing 81 gene DOID:1059 intellectual disability ISO RGD:1605353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8932363 Ccdc81 coiled-coil domain containing 81 gene DOID:630 genetic disease ISO RGD:1605353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932390 Elmod2 ELMO domain containing 2 gene DOID:2843 long QT syndrome ISO RGD:1352550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8932390 Elmod2 ELMO domain containing 2 gene DOID:630 genetic disease ISO RGD:1352550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932406 Reps1 RALBP1 associated Eps domain containing 1 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1316142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:29395073 8932406 Reps1 RALBP1 associated Eps domain containing 1 gene DOID:630 genetic disease ISO RGD:1316142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8932406 Reps1 RALBP1 associated Eps domain containing 1 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1316142 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8932406 Reps1 RALBP1 associated Eps domain containing 1 gene DOID:9009152 Neurodegeneration with Brain Iron Accumulation 7 ISO RGD:1316142 D RGD:7240710 20190315 OMIM 8932406 Reps1 RALBP1 associated Eps domain containing 1 gene DOID:9009152 Neurodegeneration with Brain Iron Accumulation 7 ISO RGD:1316142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7 PMID:25741868|PMID:28492532|PMID:29395073 8932432 Acsm2b acyl-CoA synthetase medium chain family member 2B gene DOID:630 genetic disease ISO RGD:1604166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32376792|PMID:9536098 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316419 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:20301641|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:30311386|PMID:32376792|PMID:9536098 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316419 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:18787837|PMID:20301641|PMID:21892769|PMID:23996628|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28492532|PMID:28776325|PMID:30311386|PMID:31372974|PMID:32376792|PMID:34169998|PMID:9536098 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:0110186 Charcot-Marie-Tooth disease type 4D ISO RGD:1316419 D RGD:7240710 20180711 OMIM 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:0110186 Charcot-Marie-Tooth disease type 4D ISO RGD:1316419 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D PMID:10831399|PMID:12872253|PMID:15322984|PMID:16199547|PMID:17470135|PMID:17576681|PMID:20301641|PMID:20582309|PMID:21892769|PMID:23393557|PMID:23996628|PMID:24136616|PMID:25108819|PMID:25231362|PMID:25741868|PMID:26002053|PMID:26467025|PMID:28454995|PMID:28492532|PMID:30311386|PMID:31673878|PMID:32376792|PMID:9536098 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1316419 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12872253|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:9536098 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:14264 benign neonatal seizures ISO RGD:1316419 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:1909 melanoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:3068 glioblastoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:3069 malignant astrocytoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778198 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:4310 smooth muscle tumor ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:4450 renal cell carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:5241 hemangioblastoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972152 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:630 genetic disease ISO RGD:1316419 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12872253|PMID:16199547|PMID:17576681|PMID:23996628|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:34169998|PMID:9536098 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:9000906 Oropharyngeal Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972152 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15867226|PMID:22972152 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972152 8932454 Ndrg1 N-myc downstream regulated 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341671 8932474 Il20rb interleukin 20 receptor subunit beta gene DOID:14115 toxic shock syndrome ISO RGD:1623828 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple PMID:18246602|REF_RGD_ID:5037232 8932474 Il20rb interleukin 20 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1349896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932474 Il20rb interleukin 20 receptor subunit beta gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1349896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8932486 Dcst2 DC-STAMP domain containing 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8932486 Dcst2 DC-STAMP domain containing 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8932486 Dcst2 DC-STAMP domain containing 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8932486 Dcst2 DC-STAMP domain containing 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8932486 Dcst2 DC-STAMP domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8932486 Dcst2 DC-STAMP domain containing 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8932486 Dcst2 DC-STAMP domain containing 2 gene DOID:630 genetic disease ISO RGD:1606730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932486 Dcst2 DC-STAMP domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8932508 Csnk2b casein kinase 2 beta gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1347139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8932508 Csnk2b casein kinase 2 beta gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8932508 Csnk2b casein kinase 2 beta gene DOID:0060041 autism spectrum disorder ISO RGD:1347139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8932508 Csnk2b casein kinase 2 beta gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1347139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 8932508 Csnk2b casein kinase 2 beta gene DOID:1059 intellectual disability ISO RGD:1347139 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744 8932508 Csnk2b casein kinase 2 beta gene DOID:11175 enophthalmos ISO RGD:1347139 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Enophthalmos PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744 8932508 Csnk2b casein kinase 2 beta gene DOID:11193 syndactyly ISO RGD:1347139 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744 8932508 Csnk2b casein kinase 2 beta gene DOID:11372 megacolon ISO RGD:1347139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8932508 Csnk2b casein kinase 2 beta gene DOID:127 leiomyoma ISO RGD:1347139 D RGD:9068941 20200609 RGD PMID:25327614|REF_RGD_ID:11565842 8932508 Csnk2b casein kinase 2 beta gene DOID:1749 squamous cell carcinoma ISO RGD:1347139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8932508 Csnk2b casein kinase 2 beta gene DOID:1826 epilepsy ISO RGD:1347139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744 8932508 Csnk2b casein kinase 2 beta gene DOID:5844 myocardial infarction ISO RGD:619978 D RGD:9068941 20200609 RGD PMID:15090263|REF_RGD_ID:11565830 8932508 Csnk2b casein kinase 2 beta gene DOID:630 genetic disease ISO RGD:1347139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33166063|PMID:33644862|PMID:34041744 8932508 Csnk2b casein kinase 2 beta gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:619978 D RGD:9068941 20200609 RGD PMID:11068334|REF_RGD_ID:11565824 8932508 Csnk2b casein kinase 2 beta gene DOID:9002536 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME ISO RGD:1347139 D RGD:7240710 20200226 OMIM 8932508 Csnk2b casein kinase 2 beta gene DOID:9002536 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME ISO RGD:1347139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome PMID:11574463|PMID:25741868|PMID:28492532|PMID:28585349|PMID:28762608|PMID:30655572|PMID:31784560|PMID:33166063|PMID:33644862|PMID:34041744|PMID:35571680 8932508 Csnk2b casein kinase 2 beta gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1624107 D RGD:9068941 20200609 RGD PMID:16651637|REF_RGD_ID:11565123 8932508 Csnk2b casein kinase 2 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347139 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8932508 Csnk2b casein kinase 2 beta gene DOID:9004464 Skin Neoplasms ISO RGD:1347139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8932508 Csnk2b casein kinase 2 beta gene DOID:9007478 Malocclusion, Angle Class III ISO RGD:1347139 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hapsburg jaw PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744 8932522 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1343263 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8932522 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1343263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8932522 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:1059 intellectual disability ISO RGD:1343263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8932522 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1343263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8932522 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:2746 glycogen storage disease V ISO RGD:1343263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8932522 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1343263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932522 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1343263 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8932522 Gal3st3 galactose-3-O-sulfotransferase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1343263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8932530 Mief2 mitochondrial elongation factor 2 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1347197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8932530 Mief2 mitochondrial elongation factor 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1347197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8932530 Mief2 mitochondrial elongation factor 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1347197 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8932530 Mief2 mitochondrial elongation factor 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1347197 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8932530 Mief2 mitochondrial elongation factor 2 gene DOID:0112110 combined oxidative phosphorylation deficiency 49 ISO RGD:1347197 D RGD:7240710 20200930 OMIM 8932530 Mief2 mitochondrial elongation factor 2 gene DOID:0112110 combined oxidative phosphorylation deficiency 49 ISO RGD:1347197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 49 PMID:29361167 8932530 Mief2 mitochondrial elongation factor 2 gene DOID:12849 autistic disorder ISO RGD:1347197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8932530 Mief2 mitochondrial elongation factor 2 gene DOID:630 genetic disease ISO RGD:1347197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932546 Slc8a3 solute carrier family 8 member A3 gene DOID:10283 prostate cancer ISO RGD:732656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8932546 Slc8a3 solute carrier family 8 member A3 gene DOID:10652 Alzheimer's disease ISO RGD:732656 D RGD:9068941 20200609 RGD protein:altered expression:parietal cortex, synaptosome: PMID:21382638|REF_RGD_ID:13628395 8932546 Slc8a3 solute carrier family 8 member A3 gene DOID:1824 status epilepticus ISO RGD:620197 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:15461673|REF_RGD_ID:2316980 8932546 Slc8a3 solute carrier family 8 member A3 gene DOID:1824 status epilepticus ISO RGD:732656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20888801 8932546 Slc8a3 solute carrier family 8 member A3 gene DOID:2316 brain ischemia ISO RGD:620197 D RGD:9068941 20200609 RGD PMID:16107787|REF_RGD_ID:2316979 8932546 Slc8a3 solute carrier family 8 member A3 gene DOID:630 genetic disease ISO RGD:732656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932546 Slc8a3 solute carrier family 8 member A3 gene DOID:9004009 Reperfusion Injury ISO RGD:620197 D RGD:9068941 20200609 RGD PMID:18037393|REF_RGD_ID:2316975 8932577 Stox1 storkhead box 1 gene DOID:10591 pre-eclampsia ISO RGD:1321633 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y153H (human) PMID:15806103|REF_RGD_ID:11553888 8932577 Stox1 storkhead box 1 gene DOID:10591 pre-eclampsia ISO RGD:1321633 D RGD:9068941 20200609 RGD human fetally expressed gene in a mouse model PMID:23357179|REF_RGD_ID:7248768 8932577 Stox1 storkhead box 1 gene DOID:10591 pre-eclampsia no_association ISO RGD:1321633 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Y153H (human) PMID:17617193|REF_RGD_ID:11553890 8932577 Stox1 storkhead box 1 gene DOID:10652 Alzheimer's disease severity ISO RGD:1321633 D RGD:9068941 20200609 RGD protein:increased expression:CA4 field of hippocampus (human) PMID:20110611|REF_RGD_ID:11554028 8932577 Stox1 storkhead box 1 gene DOID:630 genetic disease ISO RGD:1321633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932577 Stox1 storkhead box 1 gene DOID:9003936 Cardiomegaly ISO RGD:1321633 D RGD:9068941 20200609 RGD associated with Pre-Eclampsia; human gene fetally expressed in a mouse model PMID:26758611|REF_RGD_ID:11553897 8932577 Stox1 storkhead box 1 gene DOID:9008239 Preeclampsia/Eclampsia 4 ISO RGD:1321633 D RGD:7240710 20190327 OMIM 8932577 Stox1 storkhead box 1 gene DOID:9008239 Preeclampsia/Eclampsia 4 ISO RGD:1321633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preeclampsia/eclampsia 4 PMID:15806103|PMID:17325670|PMID:33116287 8932588 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1346295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:15385440 8932588 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1346295 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:25741868|PMID:25795793|PMID:26173643|PMID:28492532|PMID:29493581 8932588 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0060587 Noonan syndrome 9 ISO RGD:1346295 D RGD:7240710 20180130 OMIM 8932588 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0060587 Noonan syndrome 9 ISO RGD:1346295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 9 | ClinVar Annotator: match by term: SOS2-related condition PMID:16199547|PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18854871|PMID:19352411|PMID:19953625|PMID:21533187|PMID:24033266|PMID:25640679|PMID:25741868|PMID:25795793|PMID:26173643|PMID:26686981|PMID:27942422|PMID:28166811|PMID:28492532|PMID:29493581|PMID:29696744|PMID:30417923|PMID:30455982|PMID:30707178|PMID:31573083|PMID:32037394|PMID:32788663|PMID:33452774|PMID:9536098 8932588 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:0080690 RASopathy ISO RGD:1346295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25741868|PMID:25795793|PMID:26173643|PMID:27942422|PMID:28492532|PMID:29493581|PMID:30417923|PMID:30707178|PMID:32788663|PMID:33452774 8932588 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:3490 Noonan syndrome ISO RGD:1346295 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:25741868|PMID:25795793|PMID:26173643|PMID:27942422|PMID:28492532|PMID:29493581|PMID:30417923|PMID:30707178|PMID:32788663|PMID:33452774 8932588 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:630 genetic disease ISO RGD:1346295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18854871|PMID:19352411|PMID:19953625|PMID:25741868|PMID:26686981|PMID:28492532|PMID:29696744|PMID:9536098 8932588 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346295 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8932588 Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 gene DOID:9008582 Developmental Disease ISO RGD:1346295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8932614 Hoxa2 homeobox A2 gene DOID:0050682 Athabaskan brainstem dysgenesis syndrome ISO RGD:1353431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome 8932614 Hoxa2 homeobox A2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8932614 Hoxa2 homeobox A2 gene DOID:630 genetic disease ISO RGD:1353431 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932614 Hoxa2 homeobox A2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17786296 8932614 Hoxa2 homeobox A2 gene DOID:9001502 Congenital Microtia ISO RGD:1353431 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.558C>A(p.Q186K)(human) PMID:18394579|REF_RGD_ID:11553827 8932614 Hoxa2 homeobox A2 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:1353431 D RGD:7240710 20180130 OMIM 8932614 Hoxa2 homeobox A2 gene DOID:9003920 Microtia, Hearing Impairment, and Cleft Palate ISO RGD:1353431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate PMID:18394579|PMID:23775976|PMID:25691070|PMID:25741868 8932625 Fam221b family with sequence similarity 221 member B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8932625 Fam221b family with sequence similarity 221 member B gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1321320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8932625 Fam221b family with sequence similarity 221 member B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321320 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8932625 Fam221b family with sequence similarity 221 member B gene DOID:0080942 anauxetic dysplasia ISO RGD:1321320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8932625 Fam221b family with sequence similarity 221 member B gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1321320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8932625 Fam221b family with sequence similarity 221 member B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8932625 Fam221b family with sequence similarity 221 member B gene DOID:630 genetic disease ISO RGD:1321320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932625 Fam221b family with sequence similarity 221 member B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321320 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8932625 Fam221b family with sequence similarity 221 member B gene DOID:9870 galactosemia ISO RGD:1321320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8932641 Dazap1 DAZ associated protein 1 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8932641 Dazap1 DAZ associated protein 1 gene DOID:5339 cyclic hematopoiesis ISO RGD:1313216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8932641 Dazap1 DAZ associated protein 1 gene DOID:630 genetic disease ISO RGD:1313216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932641 Dazap1 DAZ associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8932641 Dazap1 DAZ associated protein 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1313216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 8932664 Lsm14b LSM family member 14B gene DOID:630 genetic disease ISO RGD:1351489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932685 Cactin cactin, spliceosome C complex subunit gene DOID:630 genetic disease ISO RGD:1344995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932705 Ulk2 unc-51 like autophagy activating kinase 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1320930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8932705 Ulk2 unc-51 like autophagy activating kinase 2 gene DOID:10283 prostate cancer ISO RGD:1320930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8932705 Ulk2 unc-51 like autophagy activating kinase 2 gene DOID:12849 autistic disorder ISO RGD:1320930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8932705 Ulk2 unc-51 like autophagy activating kinase 2 gene DOID:1790 malignant mesothelioma ISO RGD:1320930 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 8932705 Ulk2 unc-51 like autophagy activating kinase 2 gene DOID:630 genetic disease ISO RGD:1320930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932705 Ulk2 unc-51 like autophagy activating kinase 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1320930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 8932735 Phlda1 pleckstrin homology like domain family A member 1 gene DOID:0060224 atrial fibrillation ISO RGD:733133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8932735 Phlda1 pleckstrin homology like domain family A member 1 gene DOID:1561 cognitive disorder ISO RGD:733133 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36155068 8932735 Phlda1 pleckstrin homology like domain family A member 1 gene DOID:3042 allergic contact dermatitis ISO RGD:733133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8932735 Phlda1 pleckstrin homology like domain family A member 1 gene DOID:630 genetic disease ISO RGD:733133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932735 Phlda1 pleckstrin homology like domain family A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733133 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8932735 Phlda1 pleckstrin homology like domain family A member 1 gene DOID:8466 retinal degeneration ISO RGD:3836 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8932735 Phlda1 pleckstrin homology like domain family A member 1 gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:3836 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8932742 Foxb2 forkhead box B2 gene DOID:630 genetic disease ISO RGD:1605769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932746 Adra2a adrenoceptor alpha 2A gene DOID:0050741 alcohol dependence ISO RGD:2056 D RGD:9068941 20240229 RGD associated with stress-related disorder; mRNA:decreased expression:hypothalamus (rat) PMID:26121187|REF_RGD_ID:401976544 8932746 Adra2a adrenoceptor alpha 2A gene DOID:0050741 alcohol dependence susceptibility ISO RGD:737381 D RGD:9068941 20240229 RGD DNA:SNP:promoter: C-1291G (rs1800544) (human) PMID:21070505|REF_RGD_ID:401976462 8932746 Adra2a adrenoceptor alpha 2A gene DOID:0050742 nicotine dependence susceptibility ISO RGD:737381 D RGD:9068941 20240229 RGD DNA:SNP:promoter: C-1291G (rs1800544) (human) PMID:17612790|REF_RGD_ID:401976458 8932746 Adra2a adrenoceptor alpha 2A gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:737381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 8932746 Adra2a adrenoceptor alpha 2A gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:737381 D RGD:9068941 20240229 RGD protein:increased expression:liver (human) PMID:30009772|REF_RGD_ID:401976534 8932746 Adra2a adrenoceptor alpha 2A gene DOID:10763 hypertension ISO RGD:2056 D RGD:9068941 20200609 RGD mRNA:decreased expression:adrenal gland medulla PMID:20691504|REF_RGD_ID:6480490 8932746 Adra2a adrenoceptor alpha 2A gene DOID:10763 hypertension ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10694191 8932746 Adra2a adrenoceptor alpha 2A gene DOID:10763 hypertension no_association ISO RGD:737381 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16636200|REF_RGD_ID:1625183 8932746 Adra2a adrenoceptor alpha 2A gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737381 D RGD:9068941 20200609 RGD PMID:16178932|REF_RGD_ID:1559309 8932746 Adra2a adrenoceptor alpha 2A gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737381 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1291C>G (human) PMID:19150055|REF_RGD_ID:6480484 8932746 Adra2a adrenoceptor alpha 2A gene DOID:114 heart disease ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 8932746 Adra2a adrenoceptor alpha 2A gene DOID:1596 depressive disorder ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:20047711|REF_RGD_ID:6480482 8932746 Adra2a adrenoceptor alpha 2A gene DOID:1826 epilepsy ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17341653 8932746 Adra2a adrenoceptor alpha 2A gene DOID:2030 anxiety disorder ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:21669254|REF_RGD_ID:6480479 8932746 Adra2a adrenoceptor alpha 2A gene DOID:2560 morphine dependence ISO RGD:2056 D RGD:9068941 20240229 RGD mRNA:increases expression:cerebral cortex (rat) PMID:9105684|REF_RGD_ID:401976538 8932746 Adra2a adrenoceptor alpha 2A gene DOID:302 substance abuse sexual_dimorphism ISO RGD:737381 D RGD:9068941 20240229 RGD DNA:SNP:promoter: C-1291G (rs1800544) (human) PMID:21140256|REF_RGD_ID:401976460 8932746 Adra2a adrenoceptor alpha 2A gene DOID:594 panic disorder ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14656453 8932746 Adra2a adrenoceptor alpha 2A gene DOID:630 genetic disease ISO RGD:737381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9000784 Fibrosis ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20083574 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9002211 Hyperalgesia ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:17959985|REF_RGD_ID:6480488 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9003936 Cardiomegaly ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20083574 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9004484 Sepsis disease_progression ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:19894027|REF_RGD_ID:6480483 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9004610 Acute Lung Injury ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:21542970|REF_RGD_ID:6480481 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9005930 Endotoxemia onset ISO RGD:2056 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen PMID:20302880|REF_RGD_ID:6480487 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9005968 Neuralgia ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:12946573|REF_RGD_ID:6893571 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9006024 Hypotension ISO RGD:737381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16595736|PMID:18849358 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:737381 D RGD:9068941 20240229 RGD protein:increased expression:liver (human) PMID:30009772|REF_RGD_ID:401976534 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9007068 Familial Partial Lipodystrophy Type 8 ISO RGD:737381 D RGD:7240710 20240124 OMIM 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9007428 Muscle Spasticity ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:21871540|REF_RGD_ID:6480106 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9008820 Visceral Pain ISO RGD:2056 D RGD:9068941 20200609 RGD PMID:20047711|REF_RGD_ID:6480482 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9352 type 2 diabetes mellitus ISO RGD:2056 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreatic islet PMID:19965390|REF_RGD_ID:2316628 8932746 Adra2a adrenoceptor alpha 2A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737381 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:rs553668 (human) PMID:19965390|REF_RGD_ID:2316628 8932753 Ss18 SS18 subunit of BAF chromatin remodeling complex gene DOID:1059 intellectual disability ISO RGD:1323627 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8932753 Ss18 SS18 subunit of BAF chromatin remodeling complex gene DOID:5485 synovial sarcoma ISO RGD:1323627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27572315|PMID:9428816 8932753 Ss18 SS18 subunit of BAF chromatin remodeling complex gene DOID:5485 synovial sarcoma ISO RGD:1323627 D RGD:9068941 20200609 RGD PMID:7951320|REF_RGD_ID:1599184 8932753 Ss18 SS18 subunit of BAF chromatin remodeling complex gene DOID:630 genetic disease ISO RGD:1323627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932790 Ca8 carbonic anhydrase 8 gene DOID:0050834 CHARGE syndrome ISO RGD:1312313 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 8932790 Ca8 carbonic anhydrase 8 gene DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome ISO RGD:1312314 D RGD:9068941 20220825 MouseDO OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268 8932790 Ca8 carbonic anhydrase 8 gene DOID:1059 intellectual disability ISO RGD:1312313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8932790 Ca8 carbonic anhydrase 8 gene DOID:630 genetic disease ISO RGD:1312313 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 8932790 Ca8 carbonic anhydrase 8 gene DOID:9005300 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 ISO RGD:1312313 D RGD:7240710 20180130 OMIM 8932790 Ca8 carbonic anhydrase 8 gene DOID:9005300 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 ISO RGD:1312313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 PMID:19461874|PMID:21937992|PMID:25741868 8932807 Josd2 Josephin domain containing 2 gene DOID:630 genetic disease ISO RGD:1606979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932824 Ccdc168 coiled-coil domain containing 168 gene DOID:0110878 holoprosencephaly 5 ISO RGD:4109693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 8932824 Ccdc168 coiled-coil domain containing 168 gene DOID:14701 propionic acidemia ISO RGD:4109693 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8932824 Ccdc168 coiled-coil domain containing 168 gene DOID:630 genetic disease ISO RGD:4109693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932824 Ccdc168 coiled-coil domain containing 168 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:4109693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8932824 Ccdc168 coiled-coil domain containing 168 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:4109693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 8932825 Chmp2a charged multivesicular body protein 2A gene DOID:630 genetic disease ISO RGD:1603659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932838 Mtfp1 mitochondrial fission process 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604816 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (mouse) PMID:19492057|REF_RGD_ID:12880394 8932838 Mtfp1 mitochondrial fission process 1 gene DOID:630 genetic disease ISO RGD:1604816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932838 Mtfp1 mitochondrial fission process 1 gene DOID:769 neuroblastoma severity ISO RGD:1604816 D RGD:9068941 20200609 RGD mRNA:increased expression:neural tissue (human) PMID:27765905|REF_RGD_ID:12880392 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1313304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:28554332|PMID:34386584 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0070376 developmental and epileptic encephalopathy 31B ISO RGD:1313304 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 31B PMID:34172529 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1313304 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:10608808|PMID:11031245|PMID:11553700|PMID:18469812|PMID:19084268|PMID:20887364|PMID:22722545|PMID:23977156|PMID:25741868|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26611353|PMID:26865513|PMID:28492532|PMID:28554332|PMID:28667181|PMID:29264391|PMID:29668686|PMID:34386584|PMID:8335685 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1313304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0090040 torsion dystonia 7 ISO RGD:1313304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22447717 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0090051 dystonia 23 ISO RGD:1313304 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Dystonia 23 PMID:25741868 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313304 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1313304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17508423 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:543 dystonia ISO RGD:1313304 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:16199547|PMID:17576681|PMID:22447717|PMID:25741868|PMID:25778706|PMID:28492532|PMID:9536098 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1313304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10608808|PMID:11031245|PMID:11553700|PMID:19084268|PMID:23781021|PMID:23977156|PMID:25741868|PMID:26467025|PMID:26611353|PMID:28492532|PMID:28667181|PMID:29668686|PMID:8335685 8932846 Ciz1 CDKN1A interacting zinc finger protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8932881 Plekhh2 pleckstrin homology, MyTH4 and FERM domain containing H2 gene DOID:3883 Lynch syndrome ISO RGD:1351016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8932881 Plekhh2 pleckstrin homology, MyTH4 and FERM domain containing H2 gene DOID:630 genetic disease ISO RGD:1351016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932970 Mark2 microtubule affinity regulating kinase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1344457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8932970 Mark2 microtubule affinity regulating kinase 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1344457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8932970 Mark2 microtubule affinity regulating kinase 2 gene DOID:1059 intellectual disability ISO RGD:1344457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8932970 Mark2 microtubule affinity regulating kinase 2 gene DOID:12849 autistic disorder ISO RGD:1344457 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 8932970 Mark2 microtubule affinity regulating kinase 2 gene DOID:1826 epilepsy ISO RGD:1344457 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8932970 Mark2 microtubule affinity regulating kinase 2 gene DOID:3070 high grade glioma ISO RGD:1344457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8932970 Mark2 microtubule affinity regulating kinase 2 gene DOID:630 genetic disease ISO RGD:1344457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8932970 Mark2 microtubule affinity regulating kinase 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1344457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8932970 Mark2 microtubule affinity regulating kinase 2 gene DOID:9008582 Developmental Disease ISO RGD:1344457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8933016 Cebpg CCAAT enhancer binding protein gamma gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:735927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8933016 Cebpg CCAAT enhancer binding protein gamma gene DOID:630 genetic disease ISO RGD:735927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933022 Bpifc BPI fold containing family C gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1323273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 8933022 Bpifc BPI fold containing family C gene DOID:630 genetic disease ISO RGD:1323273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933022 Bpifc BPI fold containing family C gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1323273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 8933040 Neu4 neuraminidase 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1318506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8933040 Neu4 neuraminidase 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1318506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8933040 Neu4 neuraminidase 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1318506 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8933040 Neu4 neuraminidase 4 gene DOID:1059 intellectual disability ISO RGD:1318506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8933040 Neu4 neuraminidase 4 gene DOID:630 genetic disease ISO RGD:1318506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933040 Neu4 neuraminidase 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1318506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8933051 Arrdc5 arrestin domain containing 5 gene DOID:630 genetic disease ISO RGD:1353583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933063 Traf6 TNF receptor associated factor 6 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1315706 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 8933063 Traf6 TNF receptor associated factor 6 gene DOID:1059 intellectual disability ISO RGD:1315706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8933063 Traf6 TNF receptor associated factor 6 gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1315707 D RGD:9068941 20220825 MouseDO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 8933063 Traf6 TNF receptor associated factor 6 gene DOID:2600 laryngeal carcinoma disease_progression ISO RGD:1315706 D RGD:9068941 20220114 RGD PMID:20164024|REF_RGD_ID:150573814 8933063 Traf6 TNF receptor associated factor 6 gene DOID:3393 coronary artery disease ISO RGD:1315706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 8933063 Traf6 TNF receptor associated factor 6 gene DOID:630 genetic disease ISO RGD:1315706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933063 Traf6 TNF receptor associated factor 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1315706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 8933063 Traf6 TNF receptor associated factor 6 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1306853 D RGD:9068941 20220121 RGD PMID:27538408|REF_RGD_ID:151347179 8933063 Traf6 TNF receptor-associated factor 6 gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:1315707 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 8933081 Exoc6 exocyst complex component 6 gene DOID:630 genetic disease ISO RGD:733206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933132 Clu clusterin gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:68978 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctiva PMID:12036968|REF_RGD_ID:8699507 8933132 Clu clusterin gene DOID:0050855 renal fibrosis ISO RGD:3907 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22052058|REF_RGD_ID:9068421 8933132 Clu clusterin gene DOID:0050855 renal fibrosis ISO RGD:68979 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22052058|REF_RGD_ID:9068421 8933132 Clu clusterin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8933132 Clu clusterin gene DOID:0060449 gelatinous drop-like corneal dystrophy ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:10502582|REF_RGD_ID:8699502 8933132 Clu clusterin gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:68978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8933132 Clu clusterin gene DOID:0080000 muscular disease ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:15912881|REF_RGD_ID:1626306 8933132 Clu clusterin gene DOID:0080162 lupus nephritis ISO RGD:68979 D RGD:9068941 20200609 RGD mRNA:increased expression: epithelial cell of renal tubule PMID:9546356|REF_RGD_ID:8890679 8933132 Clu clusterin gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:68978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8933132 Clu clusterin gene DOID:10591 pre-eclampsia ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNP:exon:866C>T (human) PMID:15925890|REF_RGD_ID:1581195 8933132 Clu clusterin gene DOID:10652 Alzheimer's disease ISO RGD:68978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:28492532|PMID:29476165 8933132 Clu clusterin gene DOID:10763 hypertension ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNP:exon:866C>T (human) PMID:15925890|REF_RGD_ID:1581195 8933132 Clu clusterin gene DOID:11132 prostatic hypertrophy ISO RGD:3907 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland PMID:19443575|REF_RGD_ID:9068410 8933132 Clu clusterin gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:18378577|REF_RGD_ID:8696020 8933132 Clu clusterin gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:22956607|REF_RGD_ID:8661808 8933132 Clu clusterin gene DOID:11656 cicatricial pemphigoid ISO RGD:68978 D RGD:9068941 20200609 RGD mRNA:decreased expression:conjunctiva PMID:12036968|REF_RGD_ID:8699507 8933132 Clu clusterin gene DOID:12306 vitiligo ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:7558712|REF_RGD_ID:8699503 8933132 Clu clusterin gene DOID:13378 Kawasaki disease treatment ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:23956692|REF_RGD_ID:8975365 8933132 Clu clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:16639006|REF_RGD_ID:8699516 8933132 Clu clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2279590 (human) PMID:19182256|PMID:25057782|REF_RGD_ID:8887372|REF_RGD_ID:9068391 8933132 Clu clusterin gene DOID:13641 exfoliation syndrome ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:18806885|REF_RGD_ID:8699505 8933132 Clu clusterin gene DOID:13641 exfoliation syndrome no_association ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2279590 (human) PMID:19182256|REF_RGD_ID:8887372 8933132 Clu clusterin gene DOID:1612 breast cancer disease_progression ISO RGD:68978 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.27611345C>G (rs9331888) (human) PMID:22037783|REF_RGD_ID:8963167 8933132 Clu clusterin gene DOID:1749 squamous cell carcinoma severity ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:15126350|REF_RGD_ID:8936706 8933132 Clu clusterin gene DOID:1909 melanoma ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15955107 8933132 Clu clusterin gene DOID:1936 atherosclerosis treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:15961700|REF_RGD_ID:9068390 8933132 Clu clusterin gene DOID:1936 atherosclerosis treatment ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:15961700|REF_RGD_ID:9068390 8933132 Clu clusterin gene DOID:2316 brain ischemia ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:12782389|REF_RGD_ID:727237 8933132 Clu clusterin gene DOID:2351 iron metabolism disease ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:18723004|REF_RGD_ID:2301196 8933132 Clu clusterin gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:24118288|REF_RGD_ID:9068419 8933132 Clu clusterin gene DOID:3008 invasive ductal carcinoma ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:10934144|REF_RGD_ID:8699513 8933132 Clu clusterin gene DOID:3021 acute kidney failure ISO RGD:3907 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22581811|REF_RGD_ID:7245501 8933132 Clu clusterin gene DOID:3021 acute kidney failure ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118187|PMID:20623750|PMID:22005293|PMID:23052191|PMID:24361871|PMID:28885000 8933132 Clu clusterin gene DOID:3178 skin papilloma ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:11085517|REF_RGD_ID:8746700 8933132 Clu clusterin gene DOID:3393 coronary artery disease ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome;protein:decreased expression:plasma PMID:20711835|REF_RGD_ID:9068393 8933132 Clu clusterin gene DOID:3429 inclusion body myositis ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:15912881|REF_RGD_ID:1626306 8933132 Clu clusterin gene DOID:418 systemic scleroderma ISO RGD:68978 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22350181|REF_RGD_ID:8898558 8933132 Clu clusterin gene DOID:4251 conjunctival disease ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:15584350|REF_RGD_ID:9017974 8933132 Clu clusterin gene DOID:4449 macular retinal edema ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor PMID:23568601|REF_RGD_ID:9068396 8933132 Clu clusterin gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3907 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23791361|REF_RGD_ID:9068422 8933132 Clu clusterin gene DOID:4930 nasal cavity adenocarcinoma ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:19903339|REF_RGD_ID:9014708 8933132 Clu clusterin gene DOID:557 kidney disease ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258088|PMID:21593213|PMID:24863737 8933132 Clu clusterin gene DOID:576 proteinuria treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:18274700|REF_RGD_ID:9068435 8933132 Clu clusterin gene DOID:5844 myocardial infarction treatment ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:20854280|REF_RGD_ID:9068409 8933132 Clu clusterin gene DOID:6432 pulmonary hypertension ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:25069740|REF_RGD_ID:9068424 8933132 Clu clusterin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8933132 Clu clusterin gene DOID:784 chronic kidney disease ISO RGD:3907 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:urine PMID:24325231|REF_RGD_ID:9068427 8933132 Clu clusterin gene DOID:8398 osteoarthritis ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789|PMID:18784066 8933132 Clu clusterin gene DOID:8466 retinal degeneration treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:18085470|REF_RGD_ID:9068394 8933132 Clu clusterin gene DOID:8691 mycosis fungoides disease_progression ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:23702390|REF_RGD_ID:8923490 8933132 Clu clusterin gene DOID:8893 psoriasis ISO RGD:68978 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:23522962|REF_RGD_ID:9068388 8933132 Clu clusterin gene DOID:8947 diabetic retinopathy treatment ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19875648|REF_RGD_ID:9068395 8933132 Clu clusterin gene DOID:9000081 Lymphatic Metastasis ISO RGD:68978 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:snp:promoter:g.27611345C>G (rs9331888) (human) PMID:22037783|REF_RGD_ID:8963167 8933132 Clu clusterin gene DOID:9000965 Neoplasm Metastasis ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:20307318|REF_RGD_ID:8883512 8933132 Clu clusterin gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:15139011|REF_RGD_ID:1581194 8933132 Clu clusterin gene DOID:9002055 Chronic Allograft Nephropathy treatment ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:22494435|REF_RGD_ID:9068431 8933132 Clu clusterin gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3907 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18949565|REF_RGD_ID:9068414 8933132 Clu clusterin gene DOID:9002221 Hyperplasia ISO RGD:68978 D RGD:9068941 20200609 RGD associated with Breast Diseases PMID:10934144|REF_RGD_ID:8699513 8933132 Clu clusterin gene DOID:9002234 Pituitary Neoplasms treatment ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:23051594|REF_RGD_ID:8699506 8933132 Clu clusterin gene DOID:9002304 Prostatic Neoplasms ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17148459 8933132 Clu clusterin gene DOID:9002514 Neointima ISO RGD:68979 D RGD:9068941 20200609 RGD PMID:19696405|PMID:20032585|REF_RGD_ID:8699512|REF_RGD_ID:9068412 8933132 Clu clusterin gene DOID:9002775 Cognitive Dysfunction ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 8933132 Clu clusterin gene DOID:9003204 Neovascularization, Pathologic ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16308731 8933132 Clu clusterin gene DOID:9004462 Atrophy ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21536718 8933132 Clu clusterin gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:23099883|REF_RGD_ID:8699504 8933132 Clu clusterin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3907 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:23351716|REF_RGD_ID:9068411 8933132 Clu clusterin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3907 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:12763621|REF_RGD_ID:9068392 8933132 Clu clusterin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24361871|PMID:28885000 8933132 Clu clusterin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 8933132 Clu clusterin gene DOID:9008091 Optic Nerve Injuries ISO RGD:3907 D RGD:9068941 20200609 RGD PMID:14577867|REF_RGD_ID:5129542 8933132 Clu clusterin gene DOID:9008939 Breast Neoplasms severity ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:17203891|REF_RGD_ID:8729187 8933132 Clu clusterin gene DOID:9008939 Breast Neoplasms treatment ISO RGD:68978 D RGD:9068941 20200609 RGD PMID:22613415|REF_RGD_ID:8764690 8933132 Clu clusterin gene DOID:9074 systemic lupus erythematosus ISO RGD:68978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15304052 8933132 Clu clusterin gene DOID:9074 systemic lupus erythematosus ISO RGD:68978 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:10090169|REF_RGD_ID:8696021 8933177 Ubap1l ubiquitin associated protein 1 like gene DOID:0110935 nemaline myopathy 6 ISO RGD:5476950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8933177 Ubap1l ubiquitin associated protein 1 like gene DOID:2717 Bloom syndrome ISO RGD:5476950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8933177 Ubap1l ubiquitin associated protein 1 like gene DOID:630 genetic disease ISO RGD:5476950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933177 Ubap1l ubiquitin associated protein 1 like gene DOID:9256 colorectal cancer ISO RGD:5476950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8933203 Angptl7 angiopoietin like 7 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1350833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8933203 Angptl7 angiopoietin like 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8933203 Angptl7 angiopoietin like 7 gene DOID:0111936 immunodeficiency 14 ISO RGD:1350833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8933203 Angptl7 angiopoietin like 7 gene DOID:630 genetic disease ISO RGD:1350833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933203 Angptl7 angiopoietin like 7 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1350833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8933212 Vasn vasorin gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8933212 Vasn vasorin gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1605593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8933212 Vasn vasorin gene DOID:1826 epilepsy ISO RGD:1605593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8933212 Vasn vasorin gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605593 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8933212 Vasn vasorin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1605593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8933212 Vasn vasorin gene DOID:630 genetic disease ISO RGD:1605593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933212 Vasn vasorin gene DOID:684 hepatocellular carcinoma ISO RGD:1605593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25826090 8933218 Rev1 REV1 DNA directed polymerase gene DOID:630 genetic disease ISO RGD:1315491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933251 Kiaa1210 KIAA1210 ortholog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:2301934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8933251 Kiaa1210 KIAA1210 ortholog gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:2301934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8933251 Kiaa1210 KIAA1210 ortholog gene DOID:12849 autistic disorder ISO RGD:2301934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8933251 Kiaa1210 KIAA1210 ortholog gene DOID:630 genetic disease ISO RGD:2301934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8933270 Myo1h myosin IH gene DOID:630 genetic disease ISO RGD:1350940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933270 Myo1h myosin IH gene DOID:9001449 Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction ISO RGD:1350940 D RGD:7240710 20211020 OMIM 8933270 Myo1h myosin IH gene DOID:9001449 Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction ISO RGD:1350940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction PMID:25741868|PMID:28779001 8933303 Treh trehalase gene DOID:0060017 CD3epsilon deficiency ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8933303 Treh trehalase gene DOID:0060837 isolated microphthalmia 5 ISO RGD:736593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8933303 Treh trehalase gene DOID:0080690 RASopathy ISO RGD:736593 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8933303 Treh trehalase gene DOID:0081330 glycogen storage disease Ib ISO RGD:736593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8933303 Treh trehalase gene DOID:0110651 long QT syndrome 10 ISO RGD:736593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8933303 Treh trehalase gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8933303 Treh trehalase gene DOID:0111971 immunodeficiency 18 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8933303 Treh trehalase gene DOID:0111972 immunodeficiency 19 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8933303 Treh trehalase gene DOID:0111973 immunodeficiency 17 ISO RGD:736593 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8933303 Treh trehalase gene DOID:630 genetic disease ISO RGD:736593 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8933303 Treh trehalase gene DOID:9001289 Trehalase Deficiency ISO RGD:736593 D RGD:7240710 20180130 OMIM 8933303 Treh trehalase gene DOID:9001289 Trehalase Deficiency ISO RGD:736593 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: alpha, alpha-Trehalase deficiency PMID:25741868|PMID:28406212 8933303 Treh trehalase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8933303 Treh trehalase gene DOID:9007661 Dwarfism ISO RGD:736593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8933343 Npy neuropeptide Y gene DOID:0050741 alcohol dependence susceptibility ISO RGD:730830 D RGD:9068941 20240229 RGD DNA:SNP:cd: p.L7P (rs16139) (human) PMID:20554694|REF_RGD_ID:401976551 8933343 Npy neuropeptide Y gene DOID:0050830 peripheral artery disease ISO RGD:730830 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 8933343 Npy neuropeptide Y gene DOID:0060001 withdrawal disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16952158 8933343 Npy neuropeptide Y gene DOID:10652 Alzheimer's disease ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11709213 8933343 Npy neuropeptide Y gene DOID:10652 Alzheimer's disease ISO RGD:730830 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:8592643|REF_RGD_ID:10432246 8933343 Npy neuropeptide Y gene DOID:10652 Alzheimer's disease treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:22266216|REF_RGD_ID:10431479 8933343 Npy neuropeptide Y gene DOID:10763 hypertension ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:15699473|PMID:18835922|REF_RGD_ID:10448968|REF_RGD_ID:1357410 8933343 Npy neuropeptide Y gene DOID:10763 hypertension ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L7P (human) PMID:11689216|REF_RGD_ID:1580177 8933343 Npy neuropeptide Y gene DOID:11832 visual epilepsy ISO RGD:3197 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21915341|REF_RGD_ID:10448927 8933343 Npy neuropeptide Y gene DOID:11832 visual epilepsy treatment ISO RGD:730830 D RGD:9068941 20200609 RGD PMID:19038255|REF_RGD_ID:10448944 8933343 Npy neuropeptide Y gene DOID:12858 Huntington's disease ISO RGD:11016 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus PMID:23697793|REF_RGD_ID:10433112 8933343 Npy neuropeptide Y gene DOID:12858 Huntington's disease ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:1710657|REF_RGD_ID:10433553 8933343 Npy neuropeptide Y gene DOID:12858 Huntington's disease no_association ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:SNP: :rs16147 (human) PMID:24121255|REF_RGD_ID:10431606 8933343 Npy neuropeptide Y gene DOID:12858 Huntington's disease onset ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:SNP: :rs3037354 (human) PMID:24121255|REF_RGD_ID:10431606 8933343 Npy neuropeptide Y gene DOID:1287 cardiovascular system disease ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9812770 8933343 Npy neuropeptide Y gene DOID:1307 dementia ISO RGD:730830 D RGD:9068941 20200609 RGD associated with Parkinson Disease;protein:decreased expression:cerebral cortex PMID:2903567|REF_RGD_ID:10433462 8933343 Npy neuropeptide Y gene DOID:1574 alcohol use disorder ISO RGD:3197 D RGD:9068941 20200609 RGD DNA:deletion:intron:g.4666_4674del (rat) PMID:15749341|REF_RGD_ID:1357412 8933343 Npy neuropeptide Y gene DOID:1574 alcohol use disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17572454 8933343 Npy neuropeptide Y gene DOID:1574 alcohol use disorder ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.L7P (human) PMID:12215082|REF_RGD_ID:10430830 8933343 Npy neuropeptide Y gene DOID:1596 depressive disorder ISO RGD:3197 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus, prefrontal cortex PMID:22406386|REF_RGD_ID:10448940 8933343 Npy neuropeptide Y gene DOID:1596 depressive disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17572454|PMID:9729278 8933343 Npy neuropeptide Y gene DOID:1596 depressive disorder ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:snp, missense mutation:promoter, cds:g.-399T>C, p.L7P (human) PMID:14757324|REF_RGD_ID:1358535 8933343 Npy neuropeptide Y gene DOID:1596 depressive disorder treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:19623606|REF_RGD_ID:10448937 8933343 Npy neuropeptide Y gene DOID:1824 status epilepticus ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:19270346|REF_RGD_ID:10448969 8933343 Npy neuropeptide Y gene DOID:1825 childhood absence epilepsy treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:24039965|REF_RGD_ID:10448964 8933343 Npy neuropeptide Y gene DOID:1825 childhood absence epilepsy treatment ISO RGD:730830 D RGD:9068941 20200609 RGD PMID:17331209|REF_RGD_ID:10448963 8933343 Npy neuropeptide Y gene DOID:1826 epilepsy ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20064661|PMID:8868293 8933343 Npy neuropeptide Y gene DOID:1936 atherosclerosis severity ISO RGD:11016 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 8933343 Npy neuropeptide Y gene DOID:2030 anxiety disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11440811 8933343 Npy neuropeptide Y gene DOID:2030 anxiety disorder susceptibility ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes PMID:22328461|REF_RGD_ID:6480264 8933343 Npy neuropeptide Y gene DOID:2349 arteriosclerosis ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L7P (human) PMID:11689216|REF_RGD_ID:1580177 8933343 Npy neuropeptide Y gene DOID:2841 asthma ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9731035 8933343 Npy neuropeptide Y gene DOID:303 substance-related disorder ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19063928 8933343 Npy neuropeptide Y gene DOID:3328 temporal lobe epilepsy ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15716408 8933343 Npy neuropeptide Y gene DOID:3328 temporal lobe epilepsy treatment ISO RGD:730830 D RGD:9068941 20200609 RGD PMID:18477594|REF_RGD_ID:10434563 8933343 Npy neuropeptide Y gene DOID:3526 cerebral infarction ISO RGD:3197 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17123484|REF_RGD_ID:10448931 8933343 Npy neuropeptide Y gene DOID:3526 cerebral infarction ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11821007 8933343 Npy neuropeptide Y gene DOID:4483 rhinitis ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12746121 8933343 Npy neuropeptide Y gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8933343 Npy neuropeptide Y gene DOID:571 median neuropathy ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:19456245|REF_RGD_ID:10448955 8933343 Npy neuropeptide Y gene DOID:574 peripheral nervous system disease ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686523 8933343 Npy neuropeptide Y gene DOID:6000 congestive heart failure ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:17804485|REF_RGD_ID:7175103 8933343 Npy neuropeptide Y gene DOID:630 genetic disease ISO RGD:730830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933343 Npy neuropeptide Y gene DOID:9000040 Hypertrophy ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9812770 8933343 Npy neuropeptide Y gene DOID:9000099 Experimental Colitis treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:20533056|REF_RGD_ID:10448943 8933343 Npy neuropeptide Y gene DOID:9000503 Nasal Obstruction ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9288221 8933343 Npy neuropeptide Y gene DOID:9000808 Hypercholesterolemia ISO RGD:730830 D RGD:9068941 20200609 RGD associated with Obesity;DNA:missense mutation:cds:p.L7P (human) PMID:11689216|REF_RGD_ID:1580177 8933343 Npy neuropeptide Y gene DOID:9000998 Brain Injuries ISO RGD:3197 D RGD:9068941 20200609 RGD protein:increased expression:adrenal medulla PMID:23570732|REF_RGD_ID:10448961 8933343 Npy neuropeptide Y gene DOID:9001109 Anorexia ISO RGD:3197 D RGD:9068941 20200609 RGD associated with Neoplasms PMID:17234300|REF_RGD_ID:10448965 8933343 Npy neuropeptide Y gene DOID:9001109 Anorexia ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16084549|PMID:16101753|PMID:25825358 8933343 Npy neuropeptide Y gene DOID:9001480 Muscle Rigidity ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10675796 8933343 Npy neuropeptide Y gene DOID:9001981 Weight Loss ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25825358 8933343 Npy neuropeptide Y gene DOID:9002211 Hyperalgesia treatment ISO RGD:3197 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:19556004|REF_RGD_ID:10448929 8933343 Npy neuropeptide Y gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:730830 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:32956829 8933343 Npy neuropeptide Y gene DOID:9002362 Hyperkinesis ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19063928 8933343 Npy neuropeptide Y gene DOID:9002676 Cerebral Hemorrhage ISO RGD:3197 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:15068713|REF_RGD_ID:1580182 8933343 Npy neuropeptide Y gene DOID:9004086 AIDS Dementia Complex severity ISO RGD:730830 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:8815163|REF_RGD_ID:10431910 8933343 Npy neuropeptide Y gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730830 D RGD:9068941 20200609 RGD in dialysis patients with a NPY receptor Y2 mutation PMID:20543711|REF_RGD_ID:7175091 8933343 Npy neuropeptide Y gene DOID:9004663 Intestinal Ischemia ISO RGD:3197 D RGD:9068941 20200609 RGD associated with Brain Injuries;mRNA, protein:increased expression:jejunum, plasma PMID:23622727|REF_RGD_ID:10448970 8933343 Npy neuropeptide Y gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19063928 8933343 Npy neuropeptide Y gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3197 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus of hypothalamus PMID:21042571|REF_RGD_ID:10448960 8933343 Npy neuropeptide Y gene DOID:9005930 Endotoxemia treatment ISO RGD:3197 D RGD:9068941 20200609 RGD PMID:15342191|REF_RGD_ID:1580787 8933343 Npy neuropeptide Y gene DOID:9006709 Primary Graft Dysfunction ISO RGD:3197 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:blood, mononuclear cell PMID:18981110|REF_RGD_ID:10448956 8933343 Npy neuropeptide Y gene DOID:9007651 Chronic Bronchitis ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9731035 8933343 Npy neuropeptide Y gene DOID:9007956 Febrile Seizures ISO RGD:3197 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:15800380|REF_RGD_ID:1580179 8933343 Npy neuropeptide Y gene DOID:9008023 Memory Disorders ISO RGD:730830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2611661 8933343 Npy neuropeptide Y gene DOID:9352 type 2 diabetes mellitus ISO RGD:730830 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L7P (human) PMID:15926114|REF_RGD_ID:1580183 8933343 Npy neuropeptide Y gene DOID:9970 obesity ISO RGD:3197 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hypothalamus PMID:17447163|REF_RGD_ID:10448938 8933351 Sbsn suprabasin gene DOID:0110222 Brugada syndrome 5 ISO RGD:1602809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8933351 Sbsn suprabasin gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8933351 Sbsn suprabasin gene DOID:543 dystonia ISO RGD:1602809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8933351 Sbsn suprabasin gene DOID:630 genetic disease ISO RGD:1602809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933377 Tmem154 transmembrane protein 154 gene DOID:630 genetic disease ISO RGD:1603167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933396 Hoxa13 homeobox A13 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1346914 D RGD:7240710 20180130 OMIM 8933396 Hoxa13 homeobox A13 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1346914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hand-foot-genital syndrome PMID:10839976|PMID:12073020|PMID:12414828|PMID:1442892|PMID:17935235|PMID:25741868|PMID:2774004|PMID:5450271|PMID:8673126|PMID:9020844 8933396 Hoxa13 homeobox A13 gene DOID:0111544 Guttmacher syndrome ISO RGD:1346914 D RGD:7240710 20180130 OMIM 8933396 Hoxa13 homeobox A13 gene DOID:0111544 Guttmacher syndrome ISO RGD:1346914 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Guttmacher syndrome PMID:25741868|PMID:28492532 8933396 Hoxa13 homeobox A13 gene DOID:10892 hypospadias ISO RGD:1562483 D RGD:9068941 20200609 RGD mRNA:decreased expression:male genital tubercle PMID:27079746|REF_RGD_ID:12743602 8933396 Hoxa13 homeobox A13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8933396 Hoxa13 homeobox A13 gene DOID:630 genetic disease ISO RGD:1346914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8933396 Hoxa13 homeobox A13 gene DOID:684 hepatocellular carcinoma ISO RGD:1346914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8933396 Hoxa13 homeobox A13 gene DOID:9001471 Anorectal Malformations ISO RGD:1562483 D RGD:9068941 20200609 RGD mRNA:decreased expression:hindgut PMID:17161201|REF_RGD_ID:1599527 8933396 Hoxa13 homeobox A13 gene DOID:9001471 Anorectal Malformations ISO RGD:1562483 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum PMID:27079746|REF_RGD_ID:12743602 8933396 Hoxa13 homeobox A13 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1346914 D RGD:9068941 20200609 RGD hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter PMID:9020844|REF_RGD_ID:1599526 8933396 Hoxa13 homeobox A13 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1346914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8933396 Hoxa13 homeobox A13 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1346914 D RGD:9068941 20200609 RGD hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter PMID:9020844|REF_RGD_ID:1599526 8933402 Rtp4 receptor transporter protein 4 gene DOID:5419 schizophrenia ISO RGD:1605965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8933402 Rtp4 receptor transporter protein 4 gene DOID:630 genetic disease ISO RGD:1605965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933402 Rtp4 receptor transporter protein 4 gene DOID:9001488 Human Influenza ISO RGD:1605965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8933403 Sp110 SP110 nuclear body protein gene DOID:0060476 Perlman syndrome ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8933403 Sp110 SP110 nuclear body protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8933403 Sp110 SP110 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency ISO RGD:1320919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome PMID:16648851|PMID:16803959|PMID:16816019|PMID:17149599|PMID:17510920|PMID:17576681|PMID:19780822|PMID:20301448|PMID:21536091|PMID:22621957|PMID:23448538|PMID:24033266|PMID:25741868|PMID:27577878|PMID:28492532|PMID:32888943|PMID:9536098 8933403 Sp110 SP110 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency susceptibility ISO RGD:1320919 D RGD:7240710 20240320 OMIM 8933403 Sp110 SP110 nuclear body protein gene DOID:399 tuberculosis ISO RGD:1320919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16803959|PMID:16816019|PMID:17149599|PMID:24033266|PMID:25741868|PMID:28492532 8933403 Sp110 SP110 nuclear body protein gene DOID:399 tuberculosis susceptibility ISO RGD:1320919 D RGD:7240710 20240320 OMIM 8933403 Sp110 SP110 nuclear body protein gene DOID:630 genetic disease ISO RGD:1320919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8933429 Mcf2l2 MCF.2 cell line derived transforming sequence-like 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1352917 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8933429 Mcf2l2 MCF.2 cell line derived transforming sequence-like 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1352917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8933429 Mcf2l2 MCF.2 cell line derived transforming sequence-like 2 gene DOID:0111546 Currarino syndrome ISO RGD:1352917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8933429 Mcf2l2 MCF.2 cell line derived transforming sequence-like 2 gene DOID:630 genetic disease ISO RGD:1352917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933465 Pheta2 PH domain containing endocytic trafficking adaptor 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1604738 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8933465 Pheta2 PH domain containing endocytic trafficking adaptor 2 gene DOID:0080600 COVID-19 ISO RGD:1604738 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8933465 Pheta2 PH domain containing endocytic trafficking adaptor 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1604738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 8933465 Pheta2 PH domain containing endocytic trafficking adaptor 2 gene DOID:1059 intellectual disability ISO RGD:1604738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8933465 Pheta2 PH domain containing endocytic trafficking adaptor 2 gene DOID:630 genetic disease ISO RGD:1604738 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933465 Pheta2 PH domain containing endocytic trafficking adaptor 2 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1604738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8933480 Srp68 signal recognition particle 68 gene DOID:37 skin disease ISO RGD:1313366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8933480 Srp68 signal recognition particle 68 gene DOID:630 genetic disease ISO RGD:1313366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933480 Srp68 signal recognition particle 68 gene DOID:9007964 Arsenic Poisoning ISO RGD:1313366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8933480 Srp68 signal recognition particle 68 gene DOID:9008627 Severe Congenital Neutropenia 10 ISO RGD:1313366 D RGD:7240710 20231011 OMIM 8933480 Srp68 signal recognition particle 68 gene DOID:9008627 Severe Congenital Neutropenia 10 ISO RGD:1313366 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive PMID:32273475 8933480 Srp68 signal recognition particle 68 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 8933502 Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:0112224 chondrodysplasia with joint dislocations gPAPP type ISO RGD:1603038 D RGD:7240710 20180130 OMIM 8933502 Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:0112224 chondrodysplasia with joint dislocations gPAPP type ISO RGD:1603038 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type PMID:21549340|PMID:21834032|PMID:22887726|PMID:25741868|PMID:28492532|PMID:31130284 8933502 Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1603038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia 8933502 Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 gene DOID:630 genetic disease ISO RGD:1603038 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8933515 Ufsp1 UFM1 specific peptidase 1 (inactive) gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8933515 Ufsp1 UFM1 specific peptidase 1 (inactive) gene DOID:630 genetic disease ISO RGD:1604425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933519 Septin6 septin 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1316585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8933519 Septin6 septin 6 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1316585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8933519 Septin6 septin 6 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1316585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8933519 Septin6 septin 6 gene DOID:12849 autistic disorder ISO RGD:1316585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8933519 Septin6 septin 6 gene DOID:630 genetic disease ISO RGD:1316585 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:0050562 West syndrome ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive PMID:28492532 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28255779|PMID:28492532|PMID:9536098 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317247 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28255779|PMID:28454995|PMID:28492532|PMID:29924869|PMID:31589614|PMID:9536098 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1317247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:0080440 developmental and epileptic encephalopathy 3 ISO RGD:1317247 D RGD:7240710 20180130 OMIM 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:0080440 developmental and epileptic encephalopathy 3 ISO RGD:1317247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 PMID:15592994|PMID:18414213|PMID:19780765|PMID:24596948|PMID:25033742|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31589614 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:0080773 delta beta-thalassemia ISO RGD:1317247 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317247 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: TMEM63B-associated disorder PMID:15592994|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28255779|PMID:28454995|PMID:28492532|PMID:29924869|PMID:31589614|PMID:9536098 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:10283 prostate cancer ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:1826 epilepsy ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:1826 epilepsy ISO RGD:1317247 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:308 early myoclonic encephalopathy ISO RGD:1317247 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:15592994|PMID:18414213|PMID:19780765|PMID:25033742|PMID:25741868|PMID:26467025|PMID:27843123|PMID:27864847|PMID:28454995|PMID:28492532|PMID:29924869 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:630 genetic disease ISO RGD:1317247 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:29924869|PMID:9536098 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:9003816 Macrocephaly ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:28492532 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8933548 Slc25a22 solute carrier family 25 member 22 gene DOID:9008086 Developmental Disabilities ISO RGD:1317247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:28492532 8933571 Rasl11b RAS like family 11 member B gene DOID:630 genetic disease ISO RGD:1353496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343590 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0050476 Barth syndrome ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0060292 X-linked chondrodysplasia punctata 1 ISO RGD:1550149 D RGD:9068941 20220825 MouseDO OMIM:302950 | OMIM:302960 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0111822 CHILD syndrome ISO RGD:1343590 D RGD:7240710 20180130 OMIM 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0111822 CHILD syndrome ISO RGD:1343590 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Child syndrome PMID:10710235|PMID:11907515|PMID:12966526|PMID:14527740|PMID:15689440|PMID:18414213|PMID:18825599|PMID:19906044|PMID:25093865|PMID:25741868|PMID:26459993|PMID:28492532|PMID:34787337 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0111898 CK syndrome ISO RGD:1343590 D RGD:7240710 20180130 OMIM 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:0111898 CK syndrome ISO RGD:1343590 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: CK syndrome PMID:18414213|PMID:19377476|PMID:21129721|PMID:25741868|PMID:28492532 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:10588 adrenoleukodystrophy ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:1059 intellectual disability ISO RGD:1343590 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:12305 Bloch-Sulzberger syndrome ISO RGD:1550149 D RGD:9068941 20220825 MouseDO OMIM:308300 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:12849 autistic disorder ISO RGD:1343590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:13628 favism ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:1826 epilepsy ISO RGD:1343590 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:2729 dyskeratosis congenita ISO RGD:1343590 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1343590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23125191 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:607 paraplegia ISO RGD:1343590 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:630 genetic disease ISO RGD:1343590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:65 connective tissue disease ISO RGD:1343590 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:25741868|PMID:28492532 8933579 Nsdhl NAD(P) dependent steroid dehydrogenase-like gene DOID:9004538 Hearing Loss ISO RGD:1343590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868 8933600 Fxyd1 FXYD domain containing ion transport regulator 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:734187 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8933600 Fxyd1 FXYD domain containing ion transport regulator 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8933600 Fxyd1 FXYD domain containing ion transport regulator 1 gene DOID:543 dystonia ISO RGD:734187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8933600 Fxyd1 FXYD domain containing ion transport regulator 1 gene DOID:6000 congestive heart failure ISO RGD:69306 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart, membrane PMID:26668322|REF_RGD_ID:11526267 8933600 Fxyd1 FXYD domain containing ion transport regulator 1 gene DOID:630 genetic disease ISO RGD:734187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933600 Fxyd1 FXYD domain containing ion transport regulator 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:737203 D RGD:9068941 20200609 RGD PMID:24218169|REF_RGD_ID:9685471 8933600 Fxyd1 FXYD domain containing ion transport regulator 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:69306 D RGD:9068941 20200609 RGD PMID:14597563|REF_RGD_ID:9685466 8933620 L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1353313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8933620 L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:1059 intellectual disability ISO RGD:1353313 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8933620 L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:11372 megacolon ISO RGD:1353313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8933620 L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 gene DOID:630 genetic disease ISO RGD:1353313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933622 Sema3g semaphorin 3G gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1601989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8933622 Sema3g semaphorin 3G gene DOID:630 genetic disease ISO RGD:1601989 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8933676 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:12849 autistic disorder ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8933676 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:13938 amenorrhea ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8933676 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:1700 X-linked ichthyosis ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recessive X-linked ichthyosis PMID:18413370|PMID:3007328|PMID:7208152 8933676 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:1969 cerebral palsy ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8933676 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8933676 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:543 dystonia ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8933676 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:630 genetic disease ISO RGD:1346226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933676 Pnpla4 patatin like phospholipase domain containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8933691 Slc35c1 solute carrier family 35 member C1 gene DOID:0050444 infantile Refsum disease ISO RGD:1319816 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8933691 Slc35c1 solute carrier family 35 member C1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319816 D RGD:7240710 20180130 OMIM 8933691 Slc35c1 solute carrier family 35 member C1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319816 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CDG IIc | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C | ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:11213799|PMID:11326279|PMID:11326280|PMID:12116250|PMID:1279426|PMID:16455955|PMID:17576681|PMID:23806237|PMID:24033266|PMID:24403049|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29030401|PMID:32313197|PMID:33098347|PMID:33413482|PMID:35338746|PMID:9536098 8933691 Slc35c1 solute carrier family 35 member C1 gene DOID:10283 prostate cancer ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8933691 Slc35c1 solute carrier family 35 member C1 gene DOID:1059 intellectual disability ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8933691 Slc35c1 solute carrier family 35 member C1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 8933691 Slc35c1 solute carrier family 35 member C1 gene DOID:630 genetic disease ISO RGD:1319816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8933691 Slc35c1 solute carrier family 35 member C1 gene DOID:905 Zellweger syndrome ISO RGD:1319816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8933706 Mzt2b mitotic spindle organizing protein 2B gene DOID:0050453 lissencephaly ISO RGD:1605033 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25558065 8933706 Mzt2b mitotic spindle organizing protein 2B gene DOID:630 genetic disease ISO RGD:1605033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933714 Slc39a10 solute carrier family 39 member 10 gene DOID:630 genetic disease ISO RGD:1316445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933714 Slc39a10 solute carrier family 39 member 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8933714 Slc39a10 solute carrier family 39 member 10 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17359283 8933731 Slc12a8 solute carrier family 12 member 8 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1345509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8933731 Slc12a8 solute carrier family 12 member 8 gene DOID:630 genetic disease ISO RGD:1345509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933731 Slc12a8 solute carrier family 12 member 8 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1345509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 8933731 Slc12a8 solute carrier family 12 member 8 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1345509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8933731 Slc12a8 solute carrier family 12 member 8 gene DOID:9270 alkaptonuria ISO RGD:1345509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8933752 Polr3g RNA polymerase III subunit G gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348674 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8933752 Polr3g RNA polymerase III subunit G gene DOID:12849 autistic disorder ISO RGD:1348674 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism 8933752 Polr3g RNA polymerase III subunit G gene DOID:630 genetic disease ISO RGD:1348674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933752 Polr3g RNA polymerase III subunit G gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8933752 Polr3g RNA polymerase III subunit G gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348674 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8933771 Flna filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:7240710 20180130 OMIM 8933771 Flna filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:10982489|PMID:10982965|PMID:11532987|PMID:11914408|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19773341|PMID:20014127|PMID:20186808|PMID:20598277|PMID:20730588|PMID:20844545|PMID:21520333|PMID:21836662|PMID:21960593|PMID:22366253|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24098143|PMID:25167861|PMID:25326637|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28425981|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29024177|PMID:29168297|PMID:29706646|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30561107|PMID:30986657|PMID:31064749|PMID:32738303|PMID:33448881|PMID:3658675|PMID:8290091|PMID:9071288|PMID:9536098|PMID:9800904|PMID:9883725 8933771 Flna filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11748843|PMID:11914408|PMID:11968085|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28798025|PMID:28898549|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30293987|PMID:30561107|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31625567|PMID:31919883|PMID:32410215|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:3658675|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725 8933771 Flna filamin A gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1354471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28983057|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30561107|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35000503|PMID:36110220|PMID:3658675|PMID:6019437|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725 8933771 Flna filamin A gene DOID:0050476 Barth syndrome ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8933771 Flna filamin A gene DOID:0050567 orofacial cleft ISO RGD:1354471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Orofacial clefting PMID:25741868 8933771 Flna filamin A gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial tortuosity PMID:25741868 8933771 Flna filamin A gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 8933771 Flna filamin A gene DOID:0060180 colitis ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colitis PMID:25741868|PMID:28492532|PMID:30755392 8933771 Flna filamin A gene DOID:0060249 scoliosis ISO RGD:1354471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868|PMID:28492532 8933771 Flna filamin A gene DOID:0060327 omphalocele ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 8933771 Flna filamin A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8933771 Flna filamin A gene DOID:0060889 prune belly syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prune belly syndrome 8933771 Flna filamin A gene DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction ISO RGD:1354471 D RGD:7240710 20180130 OMIM 8933771 Flna filamin A gene DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction ISO RGD:1354471 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: CIIP X-linked | ClinVar Annotator: match by term: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:18414213|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30089473|PMID:30986657|PMID:35000503 8933771 Flna filamin A gene DOID:0111765 X-linked cardiac valvular dysplasia ISO RGD:1354471 D RGD:7240710 20180130 OMIM 8933771 Flna filamin A gene DOID:0111765 X-linked cardiac valvular dysplasia ISO RGD:1354471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked PMID:10982489|PMID:12612583|PMID:16299064|PMID:16417552|PMID:16822260|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:1854572|PMID:19006219|PMID:20301567|PMID:22522697|PMID:240645|PMID:24088041|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27739212|PMID:28492532|PMID:29168297|PMID:29237676|PMID:30089473|PMID:30986657|PMID:32738303|PMID:35000503|PMID:8230166|PMID:9497244|PMID:9536098 8933771 Flna filamin A gene DOID:0111782 otopalatodigital syndrome spectrum disorder ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Otopalatodigital syndrome spectrum disorder PMID:15654694|PMID:16596676 8933771 Flna filamin A gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1354471 D RGD:7240710 20180130 OMIM 8933771 Flna filamin A gene DOID:0111783 otopalatodigital syndrome type 1 ISO RGD:1354471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I PMID:10982489|PMID:11704759|PMID:11992261|PMID:12612583|PMID:15194946|PMID:15917206|PMID:15940695|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17264970|PMID:18414213|PMID:20301567|PMID:20979190|PMID:22465605|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29300383|PMID:30143558|PMID:30986657|PMID:31942422|PMID:3265608|PMID:35000503|PMID:6019437 8933771 Flna filamin A gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1354471 D RGD:7240710 20180130 OMIM 8933771 Flna filamin A gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1354471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Andre syndrome | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD 2 syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Oto-palato-digital syndrome type 2 | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:10982489|PMID:11532987|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22465605|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29334594|PMID:30089473|PMID:30143558|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33448881|PMID:34858435|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9071288|PMID:9536098 8933771 Flna filamin A gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1354471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:10982489|PMID:11532987|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22465605|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29334594|PMID:30089473|PMID:30143558|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33448881|PMID:34858435|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9071288|PMID:9536098 8933771 Flna filamin A gene DOID:0111786 frontometaphyseal dysplasia 1 ISO RGD:1354471 D RGD:7240710 20180130 OMIM 8933771 Flna filamin A gene DOID:0111786 frontometaphyseal dysplasia 1 ISO RGD:1354471 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 PMID:10982489|PMID:12612583|PMID:15523633|PMID:15917206|PMID:16417552|PMID:16596676|PMID:16822260|PMID:16835913|PMID:18414213|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30986657|PMID:35000503|PMID:9071288 8933771 Flna filamin A gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1354471 D RGD:7240710 20200408 OMIM 8933771 Flna filamin A gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1354471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:10982489|PMID:11532987|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22465605|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29334594|PMID:30089473|PMID:30143558|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33448881|PMID:34858435|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9071288|PMID:9536098 8933771 Flna filamin A gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 8933771 Flna filamin A gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 8933771 Flna filamin A gene DOID:0112003 immunodeficiency 33 ISO RGD:1354471 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8933771 Flna filamin A gene DOID:0112149 terminal osseous dysplasia ISO RGD:1354471 D RGD:7240710 20180130 OMIM 8933771 Flna filamin A gene DOID:0112149 terminal osseous dysplasia ISO RGD:1354471 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome PMID:10982489|PMID:10982965|PMID:12612583|PMID:15864382|PMID:16417552|PMID:16822260|PMID:17152064|PMID:17576681|PMID:18414213|PMID:20301567|PMID:20598277|PMID:22522697|PMID:25614868|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26467025|PMID:28492532|PMID:30561107|PMID:30986657|PMID:31919883|PMID:35000503|PMID:9536098|PMID:9800904 8933771 Flna filamin A gene DOID:10588 adrenoleukodystrophy ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8933771 Flna filamin A gene DOID:1059 intellectual disability ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 8933771 Flna filamin A gene DOID:10907 microcephaly ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8933771 Flna filamin A gene DOID:11111 hydronephrosis ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydronephrosis PMID:28492532 8933771 Flna filamin A gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23169761|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8933771 Flna filamin A gene DOID:11830 myopia ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myopia PMID:28492532 8933771 Flna filamin A gene DOID:12849 autistic disorder ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8933771 Flna filamin A gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868 8933771 Flna filamin A gene DOID:13515 tuberous sclerosis ISO RGD:1354471 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (human) PMID:25277454|REF_RGD_ID:11565117 8933771 Flna filamin A gene DOID:13620 patent foramen ovale ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868 8933771 Flna filamin A gene DOID:13628 favism ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8933771 Flna filamin A gene DOID:14004 thoracic aortic aneurysm ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16538226|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20979190|PMID:21320118|PMID:22076441|PMID:22465605|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31942422|PMID:32410215|PMID:32738303|PMID:33448881|PMID:6019437|PMID:9536098 8933771 Flna filamin A gene DOID:14004 thoracic aortic aneurysm ISO RGD:1354471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16538226|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20979190|PMID:21320118|PMID:22076441|PMID:22465605|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31942422|PMID:32410215|PMID:32738303|PMID:33448881|PMID:34858435|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9536098 8933771 Flna filamin A gene DOID:14004 thoracic aortic aneurysm ISO RGD:1354471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16538226|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20979190|PMID:21320118|PMID:22076441|PMID:22465605|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33448881|PMID:34858435|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9536098 8933771 Flna filamin A gene DOID:14323 Marfan syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 8933771 Flna filamin A gene DOID:14711 FG syndrome ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632775 8933771 Flna filamin A gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type 8933771 Flna filamin A gene DOID:1588 thrombocytopenia ISO RGD:1354471 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392 8933771 Flna filamin A gene DOID:1657 ventricular septal defect ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:28492532 8933771 Flna filamin A gene DOID:1682 congenital heart disease ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868 8933771 Flna filamin A gene DOID:1826 epilepsy ISO RGD:1354471 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure 8933771 Flna filamin A gene DOID:1923 disorder of sexual development ISO RGD:1354471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532|PMID:30675029|PMID:34858435|PMID:36110220 8933771 Flna filamin A gene DOID:2213 hemorrhagic disease ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:26467025|PMID:28492532 8933771 Flna filamin A gene DOID:2256 osteochondrodysplasia ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12612583 8933771 Flna filamin A gene DOID:2256 osteochondrodysplasia ISO RGD:1354471 D RGD:9068941 20200609 RGD Melnick-Needles syndrome;DNA:missense mutations:cds:p.A1188T, p.S1199L (human) PMID:12612583|REF_RGD_ID:1598954 8933771 Flna filamin A gene DOID:2256 osteochondrodysplasia ISO RGD:1354471 D RGD:9068941 20200609 RGD associated with Periventricular Nodular Heterotopia;DNA:missense mutation:cds:p.G208R (human) PMID:25755106|REF_RGD_ID:11565455 8933771 Flna filamin A gene DOID:2340 craniosynostosis ISO RGD:1354471 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:25873011|REF_RGD_ID:11531800 8933771 Flna filamin A gene DOID:2729 dyskeratosis congenita ISO RGD:1354471 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8933771 Flna filamin A gene DOID:3627 aortic aneurysm ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic dilatation PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 8933771 Flna filamin A gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532 8933771 Flna filamin A gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 8933771 Flna filamin A gene DOID:607 paraplegia ISO RGD:1354471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8933771 Flna filamin A gene DOID:630 genetic disease ISO RGD:1354471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26404489|PMID:28492532|PMID:30293987|PMID:30391507|PMID:31625567|PMID:33077954|PMID:34863227 8933771 Flna filamin A gene DOID:65 connective tissue disease ISO RGD:1354471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:18805826|PMID:21520333|PMID:21836662|PMID:25741868|PMID:26404489|PMID:26467025|PMID:28492532|PMID:30675029|PMID:34858435|PMID:36110220 8933771 Flna filamin A gene DOID:674 cleft palate ISO RGD:1354471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16538226|PMID:20979190|PMID:22465605|PMID:25741868|PMID:28492532|PMID:31942422|PMID:3265608|PMID:6019437 8933771 Flna filamin A gene DOID:687 hepatoblastoma ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 8933771 Flna filamin A gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1354471 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:18414213|PMID:25677497|PMID:25741868|PMID:28492532 8933771 Flna filamin A gene DOID:850 lung disease ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:18414213|PMID:25741868|PMID:28492532 8933771 Flna filamin A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1354471 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 8933771 Flna filamin A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8933771 Flna filamin A gene DOID:9001665 Aneurysm ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:25741868 8933771 Flna filamin A gene DOID:9002387 FG Syndrome 2 ISO RGD:1354471 D RGD:7240710 20200226 OMIM 8933771 Flna filamin A gene DOID:9002387 FG Syndrome 2 ISO RGD:1354471 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: FG syndrome 2 PMID:10982489|PMID:12612583|PMID:16299064|PMID:16417552|PMID:16822260|PMID:17632775|PMID:18414213|PMID:22522697|PMID:25167861|PMID:25741868|PMID:26467025|PMID:28133863|PMID:28492532|PMID:29720203|PMID:30089473|PMID:30986657|PMID:35000503 8933771 Flna filamin A gene DOID:9002720 Splenomegaly ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8933771 Flna filamin A gene DOID:9002914 Familial Sudden Death ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868|PMID:28492532 8933771 Flna filamin A gene DOID:9003646 Arterial Thrombosis ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial thrombosis PMID:25741868 8933771 Flna filamin A gene DOID:9004240 Phyllodes Tumor ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 8933771 Flna filamin A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8933771 Flna filamin A gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1354471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:10982489|PMID:11532987|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22465605|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29334594|PMID:30089473|PMID:30143558|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33448881|PMID:34858435|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9071288|PMID:9536098 8933771 Flna filamin A gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1354471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Juberg-Hayward syndrome PMID:10982489|PMID:11532987|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:32410215|PMID:32738303|PMID:33448881|PMID:34858435|PMID:35000503|PMID:36110220|PMID:9071288|PMID:9536098 8933771 Flna filamin A gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1354471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:10982489|PMID:11532987|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22465605|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26404489|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29334594|PMID:30089473|PMID:30143558|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33448881|PMID:34858435|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9071288|PMID:9536098 8933771 Flna filamin A gene DOID:9005603 Muscle Hypotonia ISO RGD:1354471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868 8933771 Flna filamin A gene DOID:9007096 Stroke ISO RGD:1354471 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 8933771 Flna filamin A gene DOID:9007661 Dwarfism ISO RGD:1354471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Short stature PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16538226|PMID:20979190|PMID:22465605|PMID:25741868|PMID:28492532|PMID:31942422|PMID:3265608|PMID:6019437 8933771 Flna filamin A gene DOID:9008086 Developmental Disabilities ISO RGD:1354471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:16684786|PMID:20730588|PMID:25741868|PMID:26471271|PMID:28492532|PMID:36937954 8933771 Flna filamin A gene DOID:9008939 Breast Neoplasms ISO RGD:1354471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 8933771 Flna filamin A gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1354471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hematochezia PMID:25741868|PMID:28492532|PMID:30755392 8933771 Flna filamin A gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:1354471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:25741868|PMID:28492532 8933771 Flna filamin A gene DOID:988 mitral valve prolapse ISO RGD:1354471 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G288R (human) PMID:24243761|REF_RGD_ID:11565119 8933836 Gsdmc gasdermin C gene DOID:630 genetic disease ISO RGD:1319081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933853 Smg1 SMG1 nonsense mediated mRNA decay associated PI3K related kinase gene DOID:630 genetic disease ISO RGD:1602127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933938 Lrriq1 leucine rich repeats and IQ motif containing 1 gene DOID:630 genetic disease ISO RGD:1343054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933989 Serinc5 serine incorporator 5 gene DOID:630 genetic disease ISO RGD:1604715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8933989 Serinc5 serine incorporator 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8934007 Fchsd1 FCH and double SH3 domains 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317900 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8934007 Fchsd1 FCH and double SH3 domains 1 gene DOID:630 genetic disease ISO RGD:1317900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934007 Fchsd1 FCH and double SH3 domains 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8934007 Fchsd1 FCH and double SH3 domains 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317900 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8934033 Fdps farnesyl diphosphate synthase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8934033 Fdps farnesyl diphosphate synthase gene DOID:0111940 immunodeficiency 42 ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8934033 Fdps farnesyl diphosphate synthase gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8934033 Fdps farnesyl diphosphate synthase gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:69022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8934033 Fdps farnesyl diphosphate synthase gene DOID:1540 parathyroid carcinoma ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8934033 Fdps farnesyl diphosphate synthase gene DOID:5812 MHC class II deficiency ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8934033 Fdps farnesyl diphosphate synthase gene DOID:630 genetic disease ISO RGD:69022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934033 Fdps farnesyl diphosphate synthase gene DOID:9003076 Porokeratosis 9, Multiple Types ISO RGD:69022 D RGD:7240710 20180130 OMIM 8934033 Fdps farnesyl diphosphate synthase gene DOID:9003076 Porokeratosis 9, Multiple Types ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis 9, multiple types PMID:26202976 8934033 Fdps farnesyl diphosphate synthase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:69022 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31774873 8934033 Fdps farnesyl diphosphate synthase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8934050 Cd83 CD83 molecule gene DOID:37 skin disease ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8934050 Cd83 CD83 molecule gene DOID:630 genetic disease ISO RGD:1320150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934050 Cd83 CD83 molecule gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8934050 Cd83 CD83 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 8934050 Cd83 CD83 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8934050 Cd83 CD83 molecule gene DOID:9007964 Arsenic Poisoning ISO RGD:1320150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8934067 Slc38a2 solute carrier family 38 member 2 gene DOID:11832 visual epilepsy ISO RGD:69420 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:21138736|REF_RGD_ID:9999229 8934067 Slc38a2 solute carrier family 38 member 2 gene DOID:14330 Parkinson's disease ISO RGD:736694 D RGD:9068941 20230907 CTD CTD Direct Evidence: therapeutic PMID:35728354 8934067 Slc38a2 solute carrier family 38 member 2 gene DOID:630 genetic disease ISO RGD:736694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934067 Slc38a2 solute carrier family 38 member 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69420 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:placenta PMID:21812961|REF_RGD_ID:9999212 8934067 Slc38a2 solute carrier family 38 member 2 gene DOID:9004484 Sepsis ISO RGD:69420 D RGD:9068941 20200609 RGD PMID:20338592|REF_RGD_ID:9999218 8934067 Slc38a2 solute carrier family 38 member 2 gene DOID:9005166 Contusions ISO RGD:69420 D RGD:9068941 20200609 RGD PMID:24045877|REF_RGD_ID:9999219 8934067 Slc38a2 solute carrier family 38 member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69420 D RGD:9068941 20200609 RGD PMID:11798158|REF_RGD_ID:9999213 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:0050117 disease by infectious agent ISO RGD:1348996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:25741868 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:0112164 spermatogenic failure 46 ISO RGD:1348996 D RGD:7240710 20201202 OMIM 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:0112164 spermatogenic failure 46 ISO RGD:1348996 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: DNAH8-related condition | ClinVar Annotator: match by term: Spermatogenic failure 46 PMID:16199547|PMID:24033266|PMID:24307375|PMID:25741868|PMID:28492532|PMID:32619401|PMID:32681648 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:10283 prostate cancer ISO RGD:1348996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:10591 pre-eclampsia ISO RGD:1348996 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:11714 gestational diabetes ISO RGD:1348996 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:1909 melanoma ISO RGD:1348996 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:303 substance-related disorder ISO RGD:1348996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:630 genetic disease ISO RGD:1348996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1348996 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME PMID:16199547|PMID:17576681|PMID:24033266|PMID:24307375|PMID:25741868|PMID:28492532|PMID:31213628|PMID:32037394|PMID:32619401|PMID:32681648|PMID:9536098 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:9004890 Paranoid Disorders ISO RGD:1348996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:9004890 Paranoid Disorders susceptibility ISO RGD:1348996 D RGD:9068941 20231102 RGD associated with cocaine dependence; DNA:SNP:: (rs1738240) (human) PMID:18438686|REF_RGD_ID:401851917 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8934095 Dnah8 dynein axonemal heavy chain 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1348996 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24033266|PMID:24307375|PMID:25741868|PMID:28492532|PMID:31213628|PMID:32037394|PMID:32574564|PMID:32619401|PMID:32681648|PMID:9536098 8934202 Wdr11 WD repeat domain 11 gene DOID:0050834 CHARGE syndrome ISO RGD:1318273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:30711679 8934202 Wdr11 WD repeat domain 11 gene DOID:0060340 ciliopathy ISO RGD:1618197 D RGD:9068941 20220825 MouseDO 8934202 Wdr11 WD repeat domain 11 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1318273 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:20887964|PMID:25741868|PMID:28492532 8934202 Wdr11 WD repeat domain 11 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1318273 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 8934202 Wdr11 WD repeat domain 11 gene DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia ISO RGD:1318273 D RGD:7240710 20180130 OMIM 8934202 Wdr11 WD repeat domain 11 gene DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia ISO RGD:1318273 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia PMID:20887964|PMID:25741868|PMID:28492532|PMID:29263200 8934202 Wdr11 WD repeat domain 11 gene DOID:10907 microcephaly ISO RGD:1318273 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:34413497 8934202 Wdr11 WD repeat domain 11 gene DOID:13938 amenorrhea ISO RGD:1318273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 8934202 Wdr11 WD repeat domain 11 gene DOID:1921 Klinefelter syndrome ISO RGD:1318273 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:20887964|PMID:25741868|PMID:28492532 8934202 Wdr11 WD repeat domain 11 gene DOID:303 substance-related disorder ISO RGD:1318273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8934202 Wdr11 WD repeat domain 11 gene DOID:3614 Kallmann syndrome ISO RGD:1618197 D RGD:9068941 20220825 MouseDO 8934202 Wdr11 WD repeat domain 11 gene DOID:5419 schizophrenia ISO RGD:1318273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8934202 Wdr11 WD repeat domain 11 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8934202 Wdr11 WD repeat domain 11 gene DOID:630 genetic disease ISO RGD:1318273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8934202 Wdr11 WD repeat domain 11 gene DOID:9002963 Autosomal Recessive Intellectual Developmental Disorder 78 ISO RGD:1318273 D RGD:7240710 20230215 OMIM 8934202 Wdr11 WD repeat domain 11 gene DOID:9002963 Autosomal Recessive Intellectual Developmental Disorder 78 ISO RGD:1318273 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 78 PMID:25741868|PMID:34413497 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080419 developmental and epileptic encephalopathy 50 ISO RGD:1348167 D RGD:7240710 20180130 OMIM 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080419 developmental and epileptic encephalopathy 50 ISO RGD:1348167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50 PMID:16199547|PMID:17576681|PMID:25678555|PMID:25741868|PMID:28007989|PMID:28492532|PMID:32117025|PMID:32461667|PMID:32820246|PMID:33497533|PMID:9536098 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1348167 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy PMID:25741868|PMID:28492532|PMID:32820246|PMID:33497533 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0080916 erythroleukemia ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1348167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:10923 sickle cell anemia ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:12241 beta thalassemia ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:12971 hereditary spherocytosis ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:1342 congenital hypoplastic anemia ISO RGD:1348167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:1826 epilepsy ISO RGD:1348167 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:3247 rhabdomyosarcoma ISO RGD:1588606 D RGD:9068941 20211119 RGD PMID:7053379|REF_RGD_ID:10755426 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:4450 renal cell carcinoma ISO RGD:1588606 D RGD:9068941 20211119 RGD PMID:7053379|REF_RGD_ID:10755426 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:630 genetic disease ISO RGD:1348167 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:32461667|PMID:32820246|PMID:33497533|PMID:9536098 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:684 hepatocellular carcinoma ISO RGD:1588606 D RGD:9068941 20200609 RGD DNA:amplification:cds (rat) PMID:2914957|REF_RGD_ID:5132587 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:684 hepatocellular carcinoma ISO RGD:1588606 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:2888462|REF_RGD_ID:2303530 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:684 hepatocellular carcinoma ISO RGD:1588606 D RGD:9068941 20211119 RGD PMID:7053379|REF_RGD_ID:10755426 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1588606 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:13618893|REF_RGD_ID:5132586 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9002231 Fetal Growth Retardation ISO RGD:1588606 D RGD:9068941 20200609 RGD PMID:3973436|REF_RGD_ID:2303532 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9002928 Colonic Neoplasms ISO RGD:1588606 D RGD:9068941 20211119 RGD PMID:7053379|REF_RGD_ID:10755426 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1588606 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:6030068|REF_RGD_ID:2303540 8934261 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1588606 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:1476792|REF_RGD_ID:5132591 8934322 Slco4a1 solute carrier organic anion transporter family member 4A1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8934322 Slco4a1 solute carrier organic anion transporter family member 4A1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:735453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8934322 Slco4a1 solute carrier organic anion transporter family member 4A1 gene DOID:0080600 COVID-19 ISO RGD:735453 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8934322 Slco4a1 solute carrier organic anion transporter family member 4A1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8934322 Slco4a1 solute carrier organic anion transporter family member 4A1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8934322 Slco4a1 solute carrier organic anion transporter family member 4A1 gene DOID:630 genetic disease ISO RGD:735453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934344 Ptcra pre T cell antigen receptor alpha gene DOID:0050444 infantile Refsum disease ISO RGD:1342695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8934344 Ptcra pre T cell antigen receptor alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1342695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8934344 Ptcra pre T cell antigen receptor alpha gene DOID:630 genetic disease ISO RGD:1342695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934344 Ptcra pre T cell antigen receptor alpha gene DOID:905 Zellweger syndrome ISO RGD:1342695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:28492532 8934344 Ptcra pre T cell antigen receptor alpha gene DOID:905 Zellweger syndrome ISO RGD:1342695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8934381 Gpr39 G protein-coupled receptor 39 gene DOID:630 genetic disease ISO RGD:1315539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934393 Supt3h SPT3 homolog, SAGA and STAGA complex component gene DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome ISO RGD:1313449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly PMID:23290074 8934393 Supt3h SPT3 homolog, SAGA and STAGA complex component gene DOID:13994 cleidocranial dysplasia ISO RGD:1313449 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cleidocranial dysostosis PMID:33987976 8934393 Supt3h SPT3 homolog, SAGA and STAGA complex component gene DOID:630 genetic disease ISO RGD:1313449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:10973849|PMID:11222472|PMID:12354768|PMID:12820704|PMID:14523039|PMID:15466642|PMID:15840476|PMID:15840483|PMID:15851227|PMID:16325048|PMID:16414944|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18361072|PMID:18452873|PMID:19412328|PMID:19841300|PMID:20129283|PMID:20403459|PMID:20539757|PMID:20875080|PMID:22373669|PMID:22378279|PMID:22557970|PMID:22581653|PMID:23008441|PMID:23098067|PMID:23503384|PMID:23631430|PMID:23805106|PMID:23861362|PMID:24033266|PMID:24653702|PMID:25163546|PMID:25351510|PMID:25741868|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26281194|PMID:26467025|PMID:26633542|PMID:26749013|PMID:27041150|PMID:27287068|PMID:28069705|PMID:28265756|PMID:28341781|PMID:28492532|PMID:28600387|PMID:28781330|PMID:29032884|PMID:29574140|PMID:30084490|PMID:31333075|PMID:31568572|PMID:31737537|PMID:32048431|PMID:32323320|PMID:32600061|PMID:33221895|PMID:33535892|PMID:34755423|PMID:35932045|PMID:36303204 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29402340|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30453078|PMID:30476647|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30758498|PMID:30828344|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31477192|PMID:31568572|PMID:31680123|PMID:31694554|PMID:31737537|PMID:31751991|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32161207|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33535892|PMID:33712541|PMID:34008892|PMID:35535697|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:26884609|PMID:26888838|PMID:26916278|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27108952|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28127136|PMID:28146213|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29402340|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29572929|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30228971|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30403391|PMID:30419068|PMID:30453078|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30828344|PMID:30828412|PMID:30847666|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31477192|PMID:31501239|PMID:31514951|PMID:31522937|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31590245|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31680123|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31900993|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33463855|PMID:33500567|PMID:33535892|PMID:33662488|PMID:33712541|PMID:33764691|PMID:33789662|PMID:34008892|PMID:34019817|PMID:34021086|PMID:34048814|PMID:34092119|PMID:34122134|PMID:34127479 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:34135346|PMID:34219138|PMID:34302607|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35284542|PMID:35535697|PMID:35663620|PMID:36129056|PMID:36197721|PMID:36220970|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21135007|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21288276|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21552533|PMID:21566136|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21895525|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370247|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22717692|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23085483|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23200271|PMID:23237912|PMID:23276942|PMID:23283979|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23538271|PMID:23571586|PMID:23612926|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23818691|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24077912|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697|PMID:24218437|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24363796|PMID:24365614|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24581105|PMID:24582607|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24768612|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24915601|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24972929|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26036855|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26136871|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26220970|PMID:26282245|PMID:26283144|PMID:26304136|PMID:26304620|PMID:26332594|PMID:26383716|PMID:26392562|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26724572|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26803770|PMID:26820365|PMID:26822237 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:26828384|PMID:26884609|PMID:26888838|PMID:26916278|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27108952|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27600370|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28127136|PMID:28146213|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29402340|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29572929|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30228971|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30403391|PMID:30419068|PMID:30453078|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30677491|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30828344|PMID:30828412|PMID:30847666|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31477192|PMID:31478073|PMID:31501239|PMID:31514951|PMID:31522937|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31590245|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31680123|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31900993|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32355288|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553838|PMID:32600061|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32815768|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33029862|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33463855|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33662488 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:33712541|PMID:33764691|PMID:33789662|PMID:33906374|PMID:34008892|PMID:34019817|PMID:34021086|PMID:34034907|PMID:34048814|PMID:34076677|PMID:34092119|PMID:34122134|PMID:34127479|PMID:34135346|PMID:34219138|PMID:34298581|PMID:34302607|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34620408|PMID:34621001|PMID:34649698|PMID:34755423|PMID:34758253|PMID:34843967|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35231055|PMID:35284542|PMID:35535697|PMID:35663620|PMID:35932045|PMID:36091819|PMID:36129056|PMID:36147716|PMID:36197721|PMID:36220970|PMID:36303204|PMID:37061847|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:10200053|PMID:10377081|PMID:10448858|PMID:10471492|PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:1097384|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11417215|PMID:11420310|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12085742|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12598077|PMID:12639704|PMID:12650879|PMID:12650885|PMID:12673799|PMID:12693506|PMID:12695286|PMID:12741714|PMID:12820704|PMID:12845244|PMID:12877697|PMID:12898257|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14625171|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15057319|PMID:15120823|PMID:15121794|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15266024|PMID:15277732|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15485686|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851320|PMID:15851440|PMID:15877619|PMID:15890323|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16038262|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16266370|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16426410|PMID:16453014|PMID:16453024|PMID:16505387|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16616735|PMID:16643399|PMID:16684018|PMID:16686678|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16798729|PMID:16864729|PMID:16922724|PMID:16945804|PMID:16980337|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17198989|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17445919|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17698727|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18065446|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18252757|PMID:18304999|PMID:18341814|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18551308|PMID:18596570|PMID:18599870|PMID:18616619|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18809926|PMID:18848812|PMID:18849657|PMID:18929244|PMID:18929331|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19029124|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19336922|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808398|PMID:19808440|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19957170|PMID:19996378|PMID:20022821|PMID:20025708|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20123697|PMID:2012928 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:20129283|PMID:20137763|PMID:2030070|PMID:20339501|PMID:20345624|PMID:20381179|PMID:20384651|PMID:20386770|PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20625312|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21135007|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21288276|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21552533|PMID:21566136|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21895525|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22216297|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370247|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22717692|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23085483|PMID:23091201|PMID:23098067|PMID:23104914|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23200271|PMID:23237912|PMID:23276942|PMID:23283979|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23538271|PMID:235469|PMID:235504|PMID:23571586|PMID:23612926|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23818691|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24077912|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697|PMID:24218437|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24363796|PMID:24365614|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24439875|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24581105|PMID:24582607|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24768612|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24915601|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24972929|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25294783|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25650408|PMID:256650|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26036855|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26136871|PMID:26150789|PMID:26154754|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26220970|PMID:26281194|PMID:26282245|PMID:26283144|PMID:26304136|PMID:26304620|PMID:26332594|PMID:26383716|PMID:26392562|PMID:26406308|PMID:26412604|PMID:26423924 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26724572|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26888838|PMID:26916278|PMID:26921764|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27108952|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27529593|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27600370|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28127136|PMID:28146213|PMID:28150151|PMID:28152038|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491738|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28518168|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29062695|PMID:29095814|PMID:29121719|PMID:29132927|PMID:29167113|PMID:291807|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29402340|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29572929|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30228971|PMID:30232268|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30403391|PMID:30419068|PMID:30420678|PMID:30453078|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30677491|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30828344|PMID:30828412|PMID:30847665|PMID:30847666|PMID:30860130|PMID:30891416|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31057083|PMID:31069529|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31371804|PMID:31397097|PMID:3142281|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31477192|PMID:31478073|PMID:31501239|PMID:31514951|PMID:31521807|PMID:31522937|PMID:31534214|PMID:31535183|PMID:31564432|PMID:31568572|PMID:31590245|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31657683|PMID:31680123|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31865383|PMID:31866066|PMID:31900993|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050451 Brugada syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32355288|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32553838|PMID:32600061|PMID:32619740|PMID:32652122|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32815768|PMID:32826072|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32917565|PMID:32931730|PMID:32931854|PMID:33029862|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33463855|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33662488|PMID:33712541|PMID:33764691|PMID:33789662|PMID:33874732|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34008892|PMID:34019817|PMID:34021086|PMID:34034907|PMID:34048814|PMID:34076677|PMID:34092119|PMID:34108154|PMID:34122134|PMID:34127479|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34302607|PMID:34348284|PMID:34379075|PMID:34426522|PMID:34428338|PMID:34461752|PMID:34486814|PMID:34539730|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34628405|PMID:34628415|PMID:34645491|PMID:34649698|PMID:34678660|PMID:34755423|PMID:34758253|PMID:34814702|PMID:34843967|PMID:34856468|PMID:34930020|PMID:34935411|PMID:35027292|PMID:35052356|PMID:35113648|PMID:35124229|PMID:35231055|PMID:35284224|PMID:35284542|PMID:35305865|PMID:35331424|PMID:35352813|PMID:35397174|PMID:35535697|PMID:35538921|PMID:35617207|PMID:35663620|PMID:35701104|PMID:35703482|PMID:35932045|PMID:36007526|PMID:36091819|PMID:36129056|PMID:36143288|PMID:36147716|PMID:36197721|PMID:36220970|PMID:36252119|PMID:36291626|PMID:36303204|PMID:36354768|PMID:36516610|PMID:36578016|PMID:36588553|PMID:36724992|PMID:36881552|PMID:36927930|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:37746560|PMID:37904629|PMID:3953067|PMID:461398|PMID:539905|PMID:545017|PMID:617273|PMID:748006|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050700 cardiomyopathy ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10508990|PMID:10807545|PMID:10961955|PMID:10966831|PMID:11463728|PMID:11710892|PMID:11823453|PMID:11901046|PMID:11960580|PMID:12085742|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14760488|PMID:14967853|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15466642|PMID:15556047|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16155735|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17331104|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18976777|PMID:19026623|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19841298|PMID:19841300|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20636320|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21167004|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21621375|PMID:21622575|PMID:22378279|PMID:22519808|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23168001|PMID:23321620|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23714088|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24317018|PMID:24332150|PMID:24400668|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24653702|PMID:24681144|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24951663|PMID:25051102|PMID:25065297|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26131924|PMID:26159999|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26304136|PMID:26332594|PMID:26467025|PMID:26743238|PMID:26746457|PMID:26749013|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27554632|PMID:27711072|PMID:28087566|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28341781|PMID:28359509|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28589536|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28831623|PMID:28988457|PMID:29032884|PMID:29396561|PMID:29431662|PMID:29449963|PMID:29672598|PMID:29728395|PMID:29907895|PMID:29970176|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30146492|PMID:30193851|PMID:30218094|PMID:30364184|PMID:30419068|PMID:30662450|PMID:30677491|PMID:30775854|PMID:30847666|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31696929|PMID:31737537|PMID:31983221|PMID:32048431|PMID:32268277|PMID:32470535|PMID:32533946|PMID:32893267|PMID:33221895|PMID:33258288|PMID:34843967|PMID:34935411|PMID:35663620|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0050820 atrioventricular block ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AV block PMID:11804990|PMID:15671429|PMID:18048769|PMID:19056759|PMID:22581653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0060224 atrial fibrillation ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:10807545|PMID:11901046|PMID:14967853|PMID:15176425|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16379539|PMID:17210839|PMID:17210841|PMID:17587741|PMID:18088563|PMID:18378609|PMID:18426444|PMID:18929244|PMID:19026623|PMID:19167345|PMID:19716085|PMID:19808477|PMID:19841300|PMID:20129283|PMID:20636320|PMID:21109022|PMID:21143119|PMID:21167004|PMID:21321465|PMID:22378279|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22995991|PMID:23174487|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24317018|PMID:24631775|PMID:24784157|PMID:25410959|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25904541|PMID:26467025|PMID:27153395|PMID:27381756|PMID:27711072|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28341781|PMID:28492532|PMID:29247119|PMID:29449639|PMID:29709244|PMID:30086531|PMID:30193851|PMID:30847666|PMID:31231243|PMID:32048431|PMID:32826072|PMID:32893267|PMID:32917565|PMID:33712541|PMID:33919104|PMID:34019817|PMID:34758253|PMID:36129056|PMID:37432518 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0060319 cardiac arrest ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:12354768|PMID:12820704|PMID:15466642|PMID:15840476|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18452873|PMID:19412328|PMID:20403459|PMID:20875080|PMID:22378279|PMID:22581653|PMID:23008441|PMID:23098067|PMID:24033266|PMID:24653702|PMID:25741868|PMID:26209461|PMID:26467025|PMID:26749013|PMID:27287068|PMID:28265756|PMID:28492532|PMID:28781330|PMID:29032884 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532|PMID:28600387|PMID:32048431 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532|PMID:28600387|PMID:32048431 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:28492532 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10690282|PMID:10727653|PMID:11823453|PMID:12639704|PMID:14961552|PMID:15121794|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16199547|PMID:16568155|PMID:16707561|PMID:17210839|PMID:17605181|PMID:17905336|PMID:18245395|PMID:18378609|PMID:18976777|PMID:19251209|PMID:19412328|PMID:19841300|PMID:20110800|PMID:20129283|PMID:20486126|PMID:20981092|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22789973|PMID:22840528|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23465283|PMID:23631430|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24227891|PMID:24529773|PMID:24573164|PMID:24784157|PMID:24795344|PMID:24915601|PMID:25051102|PMID:25172307|PMID:25650408|PMID:25741868|PMID:25748040|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26467025|PMID:27153395|PMID:27281089|PMID:27554632|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28518168|PMID:28638671|PMID:28798025|PMID:29121719|PMID:29420653|PMID:29672598|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30193851|PMID:30419068|PMID:31333075|PMID:31564432|PMID:31568572|PMID:32048431|PMID:32268277|PMID:32893267|PMID:33131149|PMID:33221895|PMID:33535892|PMID:34461752|PMID:34546463|PMID:34645491|PMID:34649698|PMID:35124229|PMID:35284542|PMID:36007526|PMID:36516610|PMID:37061847|PMID:8661019 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0080662 atrial standstill 1 ISO RGD:731255 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial standstill 1, digenic PMID:12522116|PMID:15466643|PMID:15671429|PMID:15998690|PMID:16188595|PMID:16684018|PMID:19251209|PMID:19716085|PMID:20129283|PMID:20384651|PMID:20539757|PMID:21596231|PMID:21824921|PMID:22247482|PMID:22581653|PMID:23791817|PMID:24136861|PMID:24573164|PMID:24762805|PMID:25741868|PMID:25904541|PMID:26111534|PMID:28492532|PMID:28637969|PMID:33131149|PMID:3953067 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:7240710 20240306 OMIM 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:10377081|PMID:10508990|PMID:10532948|PMID:10590249|PMID:10618304|PMID:10662748|PMID:10690282|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11410597|PMID:11417215|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11889015|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12877697|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15338453|PMID:15466642|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16505387|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16864729|PMID:16922724|PMID:17081365|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18809926|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:2030070|PMID:20384651|PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20609320|PMID:20625312|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:21908450|PMID:22028457|PMID:22090166|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370247|PMID:22373669|PMID:22378279|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23104914|PMID:23139254|PMID:23168001|PMID:23174487|PMID:23200271|PMID:23237912|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:23503384|PMID:23538271|PMID:235469|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24439875|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25410959|PMID:25467552|PMID:25554238|PMID:25624448|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25650408|PMID:256650|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26136871|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26220970|PMID:26281194|PMID:26282245|PMID:26283144|PMID:26304620|PMID:26332594|PMID:26406308|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26916278|PMID:26921764|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491738|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28518168|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28638671|PMID:28704380|PMID:28725320|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29062695|PMID:29095814|PMID:29132927|PMID:29167113|PMID:291807|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30244407|PMID:30246897|PMID:30279931|PMID:30364184|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30828344|PMID:30828412|PMID:30847666|PMID:30860130|PMID:30891416|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31032819|PMID:31043699 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:31069529|PMID:31191357|PMID:31333075|PMID:31337358|PMID:31371804|PMID:31397097|PMID:31447099|PMID:31470130|PMID:31514951|PMID:31521807|PMID:31534214|PMID:31535183|PMID:31564432|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32533187|PMID:32533946|PMID:32553838|PMID:32600061|PMID:32619740|PMID:32652122|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32815768|PMID:32826072|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32917565|PMID:32931854|PMID:33029862|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33662488|PMID:33764691|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34021086|PMID:34076677|PMID:34092119|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34348284|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34486814|PMID:34539730|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34628405|PMID:34645491|PMID:34649698|PMID:34678660|PMID:34843967|PMID:34930020|PMID:34935411|PMID:35027292|PMID:35113648|PMID:35124229|PMID:35284542|PMID:35305865|PMID:35397174|PMID:35538921|PMID:35663620|PMID:35701104|PMID:35703482|PMID:35727495|PMID:35932045|PMID:36007526|PMID:36091819|PMID:36129056|PMID:36143288|PMID:36197721|PMID:36220970|PMID:36291626|PMID:36303204|PMID:36354768|PMID:36516610|PMID:36578016|PMID:36588553|PMID:36724992|PMID:36881552|PMID:36927930|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:37746560|PMID:37904629|PMID:461398|PMID:545017|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11823453|PMID:12639704|PMID:15121794|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16199547|PMID:16568155|PMID:16707561|PMID:17210839|PMID:17605181|PMID:17905336|PMID:18245395|PMID:18378609|PMID:18976777|PMID:19841300|PMID:20129283|PMID:20981092|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22789973|PMID:23174487|PMID:23465283|PMID:23631430|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24227891|PMID:24784157|PMID:24915601|PMID:25051102|PMID:25741868|PMID:26131924|PMID:26159999|PMID:26467025|PMID:27153395|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28638671|PMID:29121719|PMID:29420653|PMID:29672598|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30419068|PMID:32048431|PMID:35284542|PMID:8661019 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:16712702|PMID:18508782|PMID:19716085|PMID:22581653|PMID:23631430|PMID:25741868|PMID:25904541|PMID:28438721|PMID:28492532|PMID:31610692|PMID:34379075 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:16712702|PMID:18508782|PMID:19716085|PMID:22581653|PMID:23631430|PMID:25741868|PMID:25904541|PMID:28438721|PMID:28492532|PMID:31610692|PMID:34379075 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110433 dilated cardiomyopathy 1E ISO RGD:731255 D RGD:7240710 20240306 OMIM 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110433 dilated cardiomyopathy 1E ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15466642|PMID:15466643|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17075016|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:235469|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23791817|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25171853|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110433 dilated cardiomyopathy 1E ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26281194|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:291807|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29961767|PMID:29970176|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30279931|PMID:30291343|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30891416|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31534214|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32553838|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34649698|PMID:34678660|PMID:34930020|PMID:34935411|PMID:35113648|PMID:35124229|PMID:35284542|PMID:35701104|PMID:35703482|PMID:36129056|PMID:36303204|PMID:36516610|PMID:36724992|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:3953067|PMID:461398|PMID:8661019|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:731255 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11901046|PMID:12106943|PMID:14523039|PMID:15671429|PMID:15851227|PMID:15890323|PMID:16643399|PMID:16712702|PMID:17368591|PMID:19251209|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:21596231|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22789973|PMID:22885917|PMID:22899775|PMID:23321620|PMID:23414114|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24613995|PMID:24762805|PMID:24784157|PMID:25171853|PMID:25351510|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:26467025|PMID:26636822|PMID:26743238|PMID:26746457|PMID:26884609|PMID:27000522|PMID:27066507|PMID:27332903|PMID:28482396|PMID:28492532|PMID:30662450|PMID:31043699|PMID:31337358|PMID:31737537|PMID:32048431|PMID:32880476|PMID:34076677|PMID:9521325 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11901046|PMID:12106943|PMID:14523039|PMID:15671429|PMID:15851227|PMID:15890323|PMID:16643399|PMID:16712702|PMID:17368591|PMID:19251209|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:21596231|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22789973|PMID:22885917|PMID:22899775|PMID:23321620|PMID:23414114|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24613995|PMID:24762805|PMID:24784157|PMID:25171853|PMID:25351510|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:26467025|PMID:26636822|PMID:26743238|PMID:26746457|PMID:26884609|PMID:27000522|PMID:27066507|PMID:27332903|PMID:28482396|PMID:28492532|PMID:30662450|PMID:31043699|PMID:31337358|PMID:31737537|PMID:32048431|PMID:32880476|PMID:32893267|PMID:33906374|PMID:34076677|PMID:35331424|PMID:35352813|PMID:9521325 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110644 long QT syndrome 1 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10377081|PMID:10508990|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:1097384|PMID:10973849|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12085742|PMID:12106943|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12650885|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14985827|PMID:14990510|PMID:15028074|PMID:15051636|PMID:15120823|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15466642|PMID:15579534|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438610|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17892895|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18752142|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20541041|PMID:20566482|PMID:20812931|PMID:20875080|PMID:21051419|PMID:21126620|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21498565|PMID:21621375|PMID:21622575|PMID:21908450|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22331908|PMID:22337857|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22581653|PMID:22685113|PMID:22705208|PMID:22721569|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23805106|PMID:23838598|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24439875|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24951663|PMID:25051102|PMID:25065297|PMID:25175087|PMID:25210526|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27930701|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110644 long QT syndrome 1 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29540853|PMID:29544605|PMID:29579189|PMID:29606593|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30165862|PMID:30193851|PMID:30279931|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30677491|PMID:30690642|PMID:30755392|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31057083|PMID:31231243|PMID:31262209|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32268277|PMID:32355288|PMID:32383558|PMID:32437023|PMID:32449611|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32652122|PMID:32746448|PMID:32893267|PMID:32931730|PMID:33029862|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33338828|PMID:33712541|PMID:34135346|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34620408|PMID:34758253|PMID:34843967|PMID:34856468|PMID:34935411|PMID:35052356|PMID:35113648|PMID:35535697|PMID:36007526|PMID:36129056|PMID:36303204|PMID:36516610|PMID:539905|PMID:617273|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110645 long QT syndrome 2 ISO RGD:731255 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:18378609|PMID:21321465|PMID:22581653|PMID:22685113|PMID:25741868|PMID:28202948|PMID:28492532|PMID:32048431|PMID:36129056 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:7240710 20240306 OMIM 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3 PMID:10200053|PMID:10377081|PMID:10448858|PMID:10508990|PMID:10590249|PMID:10618304|PMID:10727653|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:1097384|PMID:10973849|PMID:11076825|PMID:11410597|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11889015|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14654377|PMID:14687250|PMID:14736542|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15051636|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18697752|PMID:18752142|PMID:18809926|PMID:18849657|PMID:18929331|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:2030070|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:235469|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23791817|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3 PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697|PMID:24218437|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24439875|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25294783|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:256650|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26281194|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26636822|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26888838|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:291807|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29892087|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30279931|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30891416|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31043699|PMID:31057083|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31534214|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31776209|PMID:31865383|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32553838|PMID:32600061|PMID:32652122|PMID:32659924 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3 PMID:32746448|PMID:32826072|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32917565|PMID:32931730|PMID:33029862|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33641026|PMID:33712541|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34008892|PMID:34019817|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34486814|PMID:34539730|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34649698|PMID:34678660|PMID:34755423|PMID:34758253|PMID:34843967|PMID:34930020|PMID:34935411|PMID:35027292|PMID:35052356|PMID:35113648|PMID:35124229|PMID:35284542|PMID:35535697|PMID:35701104|PMID:35703482|PMID:35932045|PMID:36007526|PMID:36129056|PMID:36197721|PMID:36291626|PMID:36303204|PMID:36516610|PMID:36578016|PMID:36724992|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:3953067|PMID:461398|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0110646 long QT syndrome 3 treatment ISO RGD:731255 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:30566038|REF_RGD_ID:13831293 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0111073 progressive familial heart block ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block PMID:10471492|PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:21908450|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:235469|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0111073 progressive familial heart block ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block PMID:26214305|PMID:26220391|PMID:26281194|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:291807|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29961767|PMID:29970176|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30279931|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30891416|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31534214|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32553838|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34649698|PMID:34678660|PMID:34930020|PMID:34935411|PMID:35113648|PMID:35124229|PMID:35703482|PMID:36129056|PMID:36303204|PMID:36516610|PMID:36724992|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:461398|PMID:8661019|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0111074 progressive familial heart block type IA ISO RGD:731255 D RGD:7240710 20240306 OMIM 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0111074 progressive familial heart block type IA ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:10471492|PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:21908450|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:235469|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0111074 progressive familial heart block type IA ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:26220391|PMID:26281194|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:291807|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29961767|PMID:29970176|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30279931|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30891416|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31534214|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32553838|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34649698|PMID:34678660|PMID:34930020|PMID:34935411|PMID:35113648|PMID:35124229|PMID:35703482|PMID:36129056|PMID:36303204|PMID:36516610|PMID:36724992|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:461398|PMID:8661019|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:31680123 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:10273 heart conduction disease ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:10532948|PMID:10618304|PMID:11029409|PMID:11123251|PMID:11234013|PMID:11748104|PMID:11827685|PMID:12569159|PMID:12574143|PMID:14523039|PMID:15520322|PMID:16922724|PMID:18065446|PMID:18809926|PMID:19251209|PMID:19606473|PMID:19716085|PMID:20025708|PMID:20031634|PMID:20129283|PMID:2030070|PMID:20384651|PMID:20539757|PMID:20564468|PMID:21552533|PMID:22581653|PMID:22885917|PMID:24136861|PMID:24573164|PMID:24815523|PMID:24948852|PMID:25624448|PMID:25637381|PMID:25741868|PMID:26022185|PMID:26031372|PMID:26916278|PMID:27082542|PMID:27554632|PMID:28449774|PMID:28492532|PMID:28739862|PMID:28781330|PMID:29167113|PMID:29709101|PMID:29728395|PMID:30193851|PMID:30662450|PMID:30847666|PMID:31191357|PMID:31447099|PMID:31866066|PMID:31928070|PMID:31981491|PMID:32048431|PMID:32371921|PMID:32383558|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32893267|PMID:33131149|PMID:34539730|PMID:34620408|PMID:35027292|PMID:35124229|PMID:36516610|PMID:37061847|PMID:9521325 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:10969 hemiplegia ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemiplegia PMID:11804990|PMID:19056759|PMID:22581653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:10807545|PMID:15689442|PMID:15851227|PMID:16155735|PMID:17227473|PMID:18426444|PMID:18848812|PMID:18984535|PMID:19716085|PMID:19841300|PMID:20129283|PMID:21321465|PMID:22581653|PMID:23861362|PMID:24033266|PMID:24463578|PMID:24721456|PMID:25741868|PMID:25904541|PMID:28492532|PMID:30690642|PMID:31696929 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:29998127|PMID:30086531|PMID:30193851|PMID:31333075|PMID:31568572|PMID:9521325 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31568572|PMID:32533946|PMID:33221895|PMID:9521325 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:32533946|PMID:33084224|PMID:33221895|PMID:9521325 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:9521325 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:9521325 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:34379075|PMID:9521325 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:34379075|PMID:34843967|PMID:9521325 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32268277|PMID:32533946|PMID:32880476|PMID:32893267|PMID:33084224|PMID:33221895|PMID:34379075|PMID:34461752|PMID:34843967|PMID:34935411|PMID:9521325 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:13884 sick sinus syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome | ClinVar Annotator: match by term: Sinus node disease PMID:10377081|PMID:10727653|PMID:10961955|PMID:10973849|PMID:11901046|PMID:12877697|PMID:14523039|PMID:15840476|PMID:16379539|PMID:16453024|PMID:18451998|PMID:18452873|PMID:18508782|PMID:19716085|PMID:19841300|PMID:20110800|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21321465|PMID:22090166|PMID:22370247|PMID:22581653|PMID:22789973|PMID:23631430|PMID:24033266|PMID:24439875|PMID:24762805|PMID:24784157|PMID:24871449|PMID:25741868|PMID:26125038|PMID:26467025|PMID:27381756|PMID:27566755|PMID:28492532|PMID:28781849|PMID:29806494|PMID:30385166|PMID:31447099|PMID:31737537|PMID:32096284|PMID:32268277|PMID:32533187|PMID:32533946|PMID:32893267|PMID:33164571|PMID:34135346|PMID:34649698 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2316 brain ischemia ISO RGD:3637 D RGD:9068941 20200609 RGD PMID:19471098|REF_RGD_ID:6484225 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30847666|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31737537|PMID:31866066|PMID:31983221|PMID:32009526|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33535892|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10377081|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650879|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14676229|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17075016|PMID:17088455|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20636320|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:22090165|PMID:22090166|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23293604|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33221895|PMID:33535892|PMID:34021086|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33221895|PMID:33535892|PMID:34021086|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31501239|PMID:31614475|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31900993|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33535892|PMID:33712541|PMID:34021086|PMID:34219138|PMID:34426522|PMID:34758253|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:10200053|PMID:10377081|PMID:10448858|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12085742|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17438610|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20636320|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23293604|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24218437|PMID:24317018|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24388587|PMID:24573164|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25175087|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30677491|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31866066|PMID:31900993|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32355288|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33535892|PMID:33712541|PMID:34021086|PMID:34135346|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34758253|PMID:34843967|PMID:35052356|PMID:35535697|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10200053|PMID:10377081|PMID:10448858|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:1097384|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12085742|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16505387|PMID:16521247|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17438610|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20636320|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23104914|PMID:23158531|PMID:23174487|PMID:23293604|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24218437|PMID:24317018|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24388587|PMID:24439875|PMID:24573164|PMID:24596401|PMID:24599044|PMID:24606995 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:2843 long QT syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25175087|PMID:25210054|PMID:25210526|PMID:25294783|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30279931|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30677491|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31057083|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31900993|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32355288|PMID:32383558|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32652122|PMID:32746448|PMID:32893267|PMID:32931730|PMID:33029862|PMID:33071830|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33535892|PMID:33712541|PMID:34021086|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34486814|PMID:34620408|PMID:34758253|PMID:34843967|PMID:34856468|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35113648|PMID:35284542|PMID:35397174|PMID:35535697|PMID:35701104|PMID:36007526|PMID:36129056|PMID:36291626|PMID:36303204|PMID:36516610|PMID:36973604|PMID:37461109|PMID:37904629|PMID:539905|PMID:617273|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:731255 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:18752142|PMID:18752973|PMID:22581653|PMID:25326637|PMID:25741868|PMID:25904541|PMID:28492532|PMID:30662450|PMID:32233023|PMID:35397174 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:6000 congestive heart failure ISO RGD:3637 D RGD:9068941 20200609 RGD mRNA:decreased expression:ventricle myocardium PMID:19584134|REF_RGD_ID:6484224 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:630 genetic disease ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10471492|PMID:10940383|PMID:11710892|PMID:11901046|PMID:12736279|PMID:14523039|PMID:15655131|PMID:15840476|PMID:16453024|PMID:16684018|PMID:17210839|PMID:18378609|PMID:19251209|PMID:20100972|PMID:20129283|PMID:22581653|PMID:22766342|PMID:22840528|PMID:22999724|PMID:24631775|PMID:24768612|PMID:25274057|PMID:25741868|PMID:25904541|PMID:26173111|PMID:26820365|PMID:28087566|PMID:28104484|PMID:28492532|PMID:29574140|PMID:30193851|PMID:30847666|PMID:31776209|PMID:31983221|PMID:32893267|PMID:33221895|PMID:34461752|PMID:34930020|PMID:36147716|PMID:36516610|PMID:9753711 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:6364 migraine ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine Disorders PMID:11804990|PMID:19056759|PMID:22581653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000060 Cardiac Conduction Defect, Nonspecific ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific PMID:11748104|PMID:12574143|PMID:14523039|PMID:16922724|PMID:18809926|PMID:19251209|PMID:19606473|PMID:19716085|PMID:20031634|PMID:20129283|PMID:2030070|PMID:20384651|PMID:20539757|PMID:22581653|PMID:22885917|PMID:24136861|PMID:24573164|PMID:24815523|PMID:24948852|PMID:25624448|PMID:25637381|PMID:25741868|PMID:26022185|PMID:26031372|PMID:26916278|PMID:27082542|PMID:28449774|PMID:28492532|PMID:28781330|PMID:29167113|PMID:29709101|PMID:29728395|PMID:30193851|PMID:30662450|PMID:30847666|PMID:31191357|PMID:31447099|PMID:31866066|PMID:31928070|PMID:31981491|PMID:32048431|PMID:32371921|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32893267|PMID:33131149|PMID:34539730|PMID:34620408|PMID:35027292|PMID:35124229|PMID:36516610|PMID:37061847 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26798387|PMID:26801742|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30371189|PMID:30419068|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30700137|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31130284|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31534214|PMID:31568572|PMID:31680123|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32153684|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33535892|PMID:33712541|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10508990|PMID:10532948|PMID:10618304|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11417215|PMID:11463728|PMID:11710892|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12898257|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15466642|PMID:15466643|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16922724|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17510181|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18849657|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22064211|PMID:22247482|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23237912|PMID:23293604 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30403391|PMID:30419068|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30700137|PMID:30755392|PMID:30828412 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31638414|PMID:31680123|PMID:31696929|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31901299|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34127479|PMID:34219138|PMID:34426522|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:35535697|PMID:35663620|PMID:36197721|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11417215|PMID:11463728|PMID:11710892|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12085742|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12898257|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15466642|PMID:15466643|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16505387|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16686678|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16798729|PMID:16922724|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17510181|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18056581|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18849657|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20386770|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22064211|PMID:22216297|PMID:22247482|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23085483 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23091201|PMID:23098067|PMID:23104914|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23237912|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:235469|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:256650|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26136871|PMID:26154754|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26281194|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27108952|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27529593|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27600370|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28518168|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29062695|PMID:29121719|PMID:29167113|PMID:291807|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29895855 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:29907873|PMID:29907895|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30232268|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30279931|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30403391|PMID:30419068|PMID:30420678|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30677491|PMID:30690642|PMID:30700137|PMID:30755392|PMID:30775854|PMID:30828412|PMID:30847666|PMID:30891416|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31385086|PMID:31397097|PMID:3142281|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31514951|PMID:31521807|PMID:31534214|PMID:31535183|PMID:31564432|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31680123|PMID:31696929|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32355288|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32553838|PMID:32600061|PMID:32619740|PMID:32652122|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33662488|PMID:33712541|PMID:33764691|PMID:33874732|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34021086|PMID:34034907|PMID:34076677|PMID:34092119|PMID:34108154|PMID:34127479|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34302607|PMID:34379075|PMID:34426522|PMID:34428338|PMID:34461752|PMID:34486814|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34628415|PMID:34645491|PMID:34649698|PMID:34678660|PMID:34755423|PMID:34758253|PMID:34814702|PMID:34843967|PMID:34856468|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35113648|PMID:35124229|PMID:35284224|PMID:35284542|PMID:35331424|PMID:35352813|PMID:35397174|PMID:35535697|PMID:35538921|PMID:35617207|PMID:35663620|PMID:35701104|PMID:35703482|PMID:35932045|PMID:36007526|PMID:36129056|PMID:36197721|PMID:36252119|PMID:36291626|PMID:36303204|PMID:36354768|PMID:36516610|PMID:36588553|PMID:36724992|PMID:36881552|PMID:36927930|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:37904629|PMID:3953067|PMID:539905|PMID:617273|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000184 Ventricular Fibrillation ISO RGD:731255 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:10940383|PMID:11827685|PMID:14961552|PMID:15266024|PMID:17141278|PMID:17675083|PMID:17993325|PMID:19026623|PMID:22247482|PMID:22581653|PMID:23139254|PMID:24190697|PMID:25326637|PMID:25741868|PMID:26798387|PMID:28152038|PMID:28492532|PMID:30609406|PMID:32553838|PMID:33221895|PMID:34649698 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:12354768|PMID:12820704|PMID:15466642|PMID:15840476|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18452873|PMID:19412328|PMID:20403459|PMID:20875080|PMID:22378279|PMID:22581653|PMID:23008441|PMID:23098067|PMID:24033266|PMID:24653702|PMID:25741868|PMID:26209461|PMID:26467025|PMID:26749013|PMID:27287068|PMID:28265756|PMID:28492532|PMID:28781330|PMID:29032884 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000543 Death ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Death in early adulthood PMID:11997281|PMID:14760488|PMID:15840476|PMID:18071069|PMID:19716085|PMID:19841300|PMID:20129283|PMID:20486126|PMID:22378279|PMID:22581653|PMID:23414114|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24613995|PMID:24713084|PMID:25637381|PMID:25650408|PMID:25741868|PMID:26669661|PMID:27153395|PMID:27435932|PMID:27930701|PMID:28412158|PMID:28492532|PMID:28798025|PMID:29728395|PMID:29874177|PMID:30079003|PMID:30193851|PMID:31262209|PMID:31737537|PMID:32516855|PMID:32553227|PMID:34461752 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9000727 Syncope ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:25741868 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9001436 Immunodeficiency 68 ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:10508990|PMID:10961955|PMID:10973849|PMID:17210839|PMID:17210841|PMID:17646591|PMID:18451998|PMID:19716085|PMID:19841300|PMID:22378279|PMID:22581653|PMID:22685113|PMID:23465283|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24613995|PMID:24631775|PMID:25210526|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26743238|PMID:26746457|PMID:26822237|PMID:28341588|PMID:28412158|PMID:28492532|PMID:28988457|PMID:29247119|PMID:29331327|PMID:29764897|PMID:29790872|PMID:30847666|PMID:31019283|PMID:31043699|PMID:32048431|PMID:32652122|PMID:34426522|PMID:36129056 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9002081 Long QT Syndrome 2/3 ISO RGD:731255 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2/3, digenic PMID:16922724|PMID:22581653|PMID:22685113|PMID:23396983|PMID:23861362|PMID:24606995|PMID:25741868|PMID:28492532|PMID:28988457|PMID:29728395 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9002643 Long QT Syndrome 3/6 ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic PMID:10200053|PMID:10508990|PMID:10618304|PMID:10772658|PMID:10973849|PMID:12574983|PMID:15051636|PMID:15184283|PMID:15621041|PMID:15670972|PMID:16922724|PMID:19167409|PMID:19716085|PMID:19841300|PMID:19863579|PMID:20090423|PMID:20129283|PMID:22360817|PMID:22581653|PMID:24218437|PMID:25904541|PMID:28492532|PMID:9495298|PMID:9506831 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:10377081|PMID:10448858|PMID:10471492|PMID:10508990|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:1097384|PMID:10973849|PMID:11013131|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11417215|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12085742|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12598077|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12693506|PMID:12695286|PMID:12820704|PMID:12877697|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15051636|PMID:15120823|PMID:15121794|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16686678|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16798729|PMID:16864729|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17698727|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18252757|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18599870|PMID:18616619|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18809926|PMID:18848812|PMID:18849657|PMID:18929331|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19029124|PMID:19056759|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808398|PMID:19808440|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20022821|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:2030070|PMID:20345624|PMID:20381179|PMID:20384651|PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20609320|PMID:20625312|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21566136|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22090165|PMID:22090166 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370247|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22717692|PMID:22721569|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22956155|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:235469|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24365614|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24439875|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24581105|PMID:24582607|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24768612|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24915601|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24972929|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25294783|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25525159|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:256650|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26036855|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26281194|PMID:26282245|PMID:26283144|PMID:26304136|PMID:26332594|PMID:26392562|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26724572|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26888838|PMID:26916278|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27600370|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28127136|PMID:28150151|PMID:28152038|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29095814|PMID:29121719|PMID:29132927|PMID:29167113|PMID:291807|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30420678|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30677491|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30828412|PMID:30847666|PMID:30860130|PMID:30891416|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31057083|PMID:31069529|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:3142281|PMID:31447099|PMID:31470130|PMID:31478073|PMID:31501239|PMID:31514951|PMID:31522937|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31865383|PMID:31866066|PMID:31901299|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32355288|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32553838|PMID:32600061|PMID:32619740|PMID:32652122|PMID:32659924|PMID:32746448|PMID:32815768|PMID:32826072|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32917565|PMID:32931730|PMID:32931854|PMID:33029862|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33712541|PMID:33764691|PMID:33789662|PMID:33874732|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34021086|PMID:34034907|PMID:34076677|PMID:34092119|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34486814|PMID:34539730|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34649698|PMID:34678660|PMID:34755423|PMID:34758253|PMID:34814702|PMID:34843967|PMID:34856468|PMID:34930020|PMID:34935411|PMID:35027292|PMID:35052356|PMID:35113648|PMID:35124229|PMID:35284542|PMID:35305865|PMID:35331424|PMID:35352813|PMID:35535697|PMID:35538921|PMID:35663620|PMID:35703482|PMID:35932045|PMID:36007526|PMID:36091819|PMID:36129056|PMID:36143288|PMID:36147716|PMID:36197721|PMID:36252119|PMID:36291626|PMID:36303204|PMID:36354768|PMID:36516610|PMID:36578016|PMID:36588553|PMID:36724992|PMID:36927930|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:37746560|PMID:3953067|PMID:461398|PMID:539905|PMID:617273|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003163 Heart Block ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:10508990|PMID:10961955|PMID:10973849|PMID:17210839|PMID:17210841|PMID:17646591|PMID:18451998|PMID:19716085|PMID:19841300|PMID:22378279|PMID:22581653|PMID:22685113|PMID:23465283|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24613995|PMID:24631775|PMID:25210526|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26743238|PMID:26746457|PMID:26822237|PMID:28341588|PMID:28412158|PMID:28492532|PMID:28988457|PMID:29247119|PMID:29331327|PMID:29764897|PMID:29790872|PMID:30847666|PMID:31019283|PMID:31043699|PMID:32048431|PMID:32652122|PMID:34426522|PMID:36129056 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003450 Nonprogressive Heart Block ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart block, nonprogressive PMID:10471492 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:7240710 20240306 OMIM 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34426522|PMID:34539730|PMID:34930020|PMID:8661019|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18809926|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34539730|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS BRADYCARDIA SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18809926|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS BRADYCARDIA SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31534214|PMID:31610692|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32600061|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33029862|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34621001|PMID:34930020|PMID:34935411|PMID:36129056|PMID:37061847|PMID:8661019|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18809926|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:2030070|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:21908450|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:235469|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25171853|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:26022185|PMID:26031372|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26281194|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:291807|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29961767|PMID:29970176|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30279931|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30891416|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31534214|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32553838|PMID:32600061|PMID:32652122|PMID:32746448|PMID:32826072|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34649698|PMID:34678660|PMID:34930020|PMID:34935411|PMID:35027292|PMID:35113648|PMID:35124229|PMID:35703482|PMID:36129056|PMID:36303204|PMID:36516610|PMID:36724992|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:461398|PMID:8661019|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:731255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation PMID:16453024|PMID:20110800|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10377081|PMID:10508990|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:1097384|PMID:10973849|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12085742|PMID:12106943|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12650885|PMID:12695286|PMID:12820704|PMID:12877697|PMID:14500339|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14985827|PMID:14990510|PMID:15028074|PMID:15051636|PMID:15120823|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15466642|PMID:15579534|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438610|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17892895|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18752142|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20541041|PMID:20566482|PMID:20812931|PMID:20875080|PMID:21051419|PMID:21126620|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21498565|PMID:21621375|PMID:21622575|PMID:21908450|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22331908|PMID:22337857|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22581653|PMID:22685113|PMID:22705208|PMID:22721569|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23805106|PMID:23838598|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24439875|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24951663|PMID:25051102|PMID:25065297|PMID:25175087|PMID:25210526|PMID:25294783|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27930701|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29540853|PMID:29544605|PMID:29579189|PMID:29606593|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30165862|PMID:30193851|PMID:30279931|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30677491|PMID:30690642|PMID:30755392|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31057083|PMID:31231243|PMID:31262209|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32268277|PMID:32355288|PMID:32383558|PMID:32437023|PMID:32449611|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32652122|PMID:32746448|PMID:32893267|PMID:32931730|PMID:33029862|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33338828|PMID:33712541|PMID:34135346|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34620408|PMID:34758253|PMID:34843967|PMID:34856468|PMID:34935411|PMID:35052356|PMID:35113648|PMID:35535697|PMID:36007526|PMID:36129056|PMID:36303204|PMID:36516610|PMID:539905|PMID:617273|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9005141 Ventricular Tachycardia ISO RGD:731255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:10807545|PMID:11901046|PMID:14967853|PMID:15176425|PMID:15851227|PMID:15992732|PMID:15996170|PMID:16379539|PMID:17210839|PMID:17210841|PMID:17587741|PMID:18378609|PMID:18426444|PMID:19027780|PMID:19412328|PMID:19632629|PMID:19841300|PMID:20129283|PMID:20636320|PMID:21109022|PMID:21167004|PMID:21705349|PMID:22378279|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22840528|PMID:22995991|PMID:23299917|PMID:23414114|PMID:23465283|PMID:23571586|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24317018|PMID:24667783|PMID:24721456|PMID:24721642|PMID:25554238|PMID:25637381|PMID:25741868|PMID:26159999|PMID:26406308|PMID:26467025|PMID:26743238|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27711072|PMID:28087566|PMID:28341781|PMID:28492532|PMID:31043699|PMID:31918855 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9005444 Torsades de Pointes ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653|PMID:25741868|PMID:28492532|PMID:30079003|PMID:34930020 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9006030 Infant Death ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:11901046|PMID:11997281|PMID:14753626|PMID:14760488|PMID:15840476|PMID:18071069|PMID:18708744|PMID:19716085|PMID:19841300|PMID:20129283|PMID:20486126|PMID:21167176|PMID:22378279|PMID:22426227|PMID:22581653|PMID:22840528|PMID:22984773|PMID:23414114|PMID:23631430|PMID:23805106|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24613995|PMID:24631775|PMID:24713084|PMID:24721456|PMID:24892747|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25904541|PMID:26159999|PMID:26332594|PMID:26467025|PMID:26538325|PMID:26669661|PMID:26746457|PMID:27153395|PMID:27435932|PMID:27930701|PMID:28412158|PMID:28492532|PMID:28794082|PMID:28798025|PMID:28988457|PMID:29728395|PMID:29874177|PMID:30079003|PMID:30153324|PMID:30193851|PMID:30847666|PMID:31262209|PMID:31737537|PMID:32516855|PMID:32553227|PMID:34021086|PMID:34461752 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9006508 Cardiac Conduction Defect, Nonprogressive ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac conduction defect, nonprogressive PMID:11234013|PMID:19251209|PMID:22581653 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9007 sudden infant death syndrome ISO RGD:731255 D RGD:7240710 20240306 OMIM 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9007 sudden infant death syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death PMID:10807545|PMID:10807547|PMID:10940383|PMID:10966831|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15466642|PMID:15485686|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18596570|PMID:18809926|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20038812|PMID:20129283|PMID:20137763|PMID:2030070|PMID:20384651|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21498565|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:21908450|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23299917|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24332150|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26281194|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27930701|PMID:28069705|PMID:28086167 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9007 sudden infant death syndrome ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28370132|PMID:28412158|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28600387|PMID:28638671|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29062695|PMID:29132927|PMID:29167113|PMID:291807|PMID:29202755|PMID:29247119|PMID:29396561|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907895|PMID:29961767|PMID:29970176|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30828412|PMID:30847666|PMID:30891416|PMID:30972196|PMID:31043699|PMID:31191357|PMID:31447099|PMID:31470130|PMID:31534214|PMID:31610692|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32533946|PMID:32553838|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32850980|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33641026|PMID:33919104|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34649698|PMID:34678660|PMID:34843967|PMID:34930020|PMID:34935411|PMID:35027292|PMID:35113648|PMID:35124229|PMID:35703482|PMID:36129056|PMID:36303204|PMID:36516610|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:461398|PMID:8661019|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9007820 Sudden Death ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:17210839|PMID:17210841|PMID:19716085|PMID:20129283|PMID:22581653|PMID:24033266|PMID:25741868|PMID:27332903|PMID:28492532|PMID:32533946|PMID:36578016 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9007925 Sudden Cardiac Death ISO RGD:731255 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:14985827|PMID:15851227|PMID:16712702|PMID:18378609|PMID:18508782|PMID:19564561|PMID:19841300|PMID:19862833|PMID:20102864|PMID:20129283|PMID:22090166|PMID:22370247|PMID:22581653|PMID:22789973|PMID:22984773|PMID:23631430|PMID:23671135|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26746457|PMID:27000522|PMID:28492532|PMID:30254039|PMID:30662450|PMID:32268277|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32880476|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33906374|PMID:34135346|PMID:34620408|PMID:34649698 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008021 Familial Atrial Fibrillation 10 ISO RGD:731255 D RGD:7240710 20240306 OMIM 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008021 Familial Atrial Fibrillation 10 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 PMID:10711933|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10966831|PMID:11076825|PMID:11123251|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15466642|PMID:15466643|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18452875|PMID:18508782|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19406494|PMID:19412328|PMID:19606473|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23299917|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23791817|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24332150|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26281194|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008021 Familial Atrial Fibrillation 10 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 PMID:27810048|PMID:27816319|PMID:27930701|PMID:28069705|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:291807|PMID:29202755|PMID:29247119|PMID:29396561|PMID:29431662|PMID:29449639|PMID:29517769|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907895|PMID:29915097|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30828412|PMID:30847666|PMID:30891416|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31447099|PMID:31470130|PMID:31534214|PMID:31610692|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32533946|PMID:32553838|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33641026|PMID:33919104|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34649698|PMID:34678660|PMID:34930020|PMID:34935411|PMID:35113648|PMID:35124229|PMID:35703482|PMID:36129056|PMID:36303204|PMID:36516610|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:3953067|PMID:461398|PMID:8661019|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:731255 D RGD:7240710 20240306 OMIM 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:21908450|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:235469|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26281194|PMID:26282245|PMID:26332594 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:291807|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29961767|PMID:29970176|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30279931|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30891416|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31534214|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32553838|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34649698|PMID:34678660|PMID:34930020|PMID:34935411|PMID:35113648|PMID:35124229|PMID:35703482|PMID:36129056|PMID:36303204|PMID:36516610|PMID:36724992|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:461398|PMID:8661019|PMID:9536098|PMID:9716085 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:731255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:10471492|PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17438607|PMID:17438610|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20403459|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:21908450|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:235469|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305 8934411 Scn5a sodium voltage-gated channel alpha subunit 5 gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:731255 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:26220391|PMID:26281194|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26680202|PMID:26713557|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27077130|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:291807|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29961767|PMID:29970176|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30279931|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30891416|PMID:30972196|PMID:31043699|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31534214|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32553838|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34649698|PMID:34678660|PMID:34930020|PMID:34935411|PMID:35113648|PMID:35124229|PMID:35703482|PMID:36129056|PMID:36303204|PMID:36516610|PMID:36724992|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:461398|PMID:8661019|PMID:9536098|PMID:9716085 8934461 Nbr1 NBR1 autophagy cargo receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1322877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 8934461 Nbr1 NBR1 autophagy cargo receptor gene DOID:630 genetic disease ISO RGD:1322877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934488 Med12 mediator complex subunit 12 gene DOID:0001816 angiosarcoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiosarcoma PMID:26822237 8934488 Med12 mediator complex subunit 12 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1350145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 8934488 Med12 mediator complex subunit 12 gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1 PMID:25741868 8934488 Med12 mediator complex subunit 12 gene DOID:0060289 Ohdo syndrome ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8934488 Med12 mediator complex subunit 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8934488 Med12 mediator complex subunit 12 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1350145 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:20301719|PMID:25326637|PMID:25741868|PMID:26338144|PMID:28492532|PMID:36271811 8934488 Med12 mediator complex subunit 12 gene DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type ISO RGD:1350145 D RGD:7240710 20180130 OMIM 8934488 Med12 mediator complex subunit 12 gene DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type ISO RGD:1350145 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome PMID:10405444|PMID:16199547|PMID:17334363|PMID:17369503|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:24039113|PMID:24077912|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26338144|PMID:26350204|PMID:27980443|PMID:28369444|PMID:28492532|PMID:30006928|PMID:30729724|PMID:31322785|PMID:31536828|PMID:32174975|PMID:32371413|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:36271811|PMID:6711603 8934488 Med12 mediator complex subunit 12 gene DOID:0110457 dilated cardiomyopathy 1Y ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Y PMID:28492532 8934488 Med12 mediator complex subunit 12 gene DOID:10488 imperforate anus ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 8934488 Med12 mediator complex subunit 12 gene DOID:1059 intellectual disability ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26273451|PMID:26350204|PMID:28369444|PMID:28492532|PMID:28544239 8934488 Med12 mediator complex subunit 12 gene DOID:12849 autistic disorder ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8934488 Med12 mediator complex subunit 12 gene DOID:13223 uterine fibroid ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:26822237 8934488 Med12 mediator complex subunit 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350145 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27312080|PMID:28492532|PMID:28544239|PMID:30006928|PMID:33244166|PMID:9536098 8934488 Med12 mediator complex subunit 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27312080|PMID:28492532|PMID:28544239|PMID:30006928|PMID:33023636|PMID:33244166|PMID:34008892|PMID:9536098 8934488 Med12 mediator complex subunit 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1350145 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:18414213|PMID:20301719|PMID:23395478|PMID:24039113|PMID:24715367|PMID:24728327|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26813965|PMID:27081531|PMID:27312080|PMID:28492532|PMID:28544239|PMID:28882788|PMID:30006928|PMID:32779332|PMID:33023636|PMID:33244166|PMID:34008892|PMID:9536098 8934488 Med12 mediator complex subunit 12 gene DOID:1470 major depressive disorder ISO RGD:1350145 D RGD:9068941 20200806 RGD DNA:mutation:multiple PMID:12216017|REF_RGD_ID:1358728 8934488 Med12 mediator complex subunit 12 gene DOID:14711 FG syndrome ISO RGD:1350145 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome PMID:10405444|PMID:10982179|PMID:16199547|PMID:16700052|PMID:17334363|PMID:17369503|PMID:17576681|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23757202|PMID:24039113|PMID:24077912|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26273451|PMID:26338144|PMID:26350204|PMID:26813965|PMID:27081531|PMID:27312080|PMID:27500536|PMID:27620904|PMID:27980443|PMID:28369444|PMID:28492532|PMID:28544239|PMID:28794916|PMID:30006928|PMID:30729724|PMID:31536828|PMID:32371413|PMID:32682435|PMID:32715471|PMID:32779332|PMID:33023636|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:34079076|PMID:34573309|PMID:36271811|PMID:6711603|PMID:8279489|PMID:9536098 8934488 Med12 mediator complex subunit 12 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8934488 Med12 mediator complex subunit 12 gene DOID:1967 leiomyosarcoma ISO RGD:1350145 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:26891131|REF_RGD_ID:11353203 8934488 Med12 mediator complex subunit 12 gene DOID:2154 nephroblastoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:25741868|PMID:26822237 8934488 Med12 mediator complex subunit 12 gene DOID:2526 prostate adenocarcinoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:26619011 8934488 Med12 mediator complex subunit 12 gene DOID:3068 glioblastoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26822237 8934488 Med12 mediator complex subunit 12 gene DOID:3717 gastric adenocarcinoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:26619011 8934488 Med12 mediator complex subunit 12 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 8934488 Med12 mediator complex subunit 12 gene DOID:3948 adrenocortical carcinoma ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 8934488 Med12 mediator complex subunit 12 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 8934488 Med12 mediator complex subunit 12 gene DOID:591 phobic disorder ISO RGD:1350145 D RGD:9068941 20200806 RGD DNA:mutation:multiple PMID:12216017|REF_RGD_ID:1358728 8934488 Med12 mediator complex subunit 12 gene DOID:630 genetic disease ISO RGD:1350145 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10405444|PMID:16700052|PMID:17036352|PMID:17103446|PMID:17334363|PMID:17369503|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20507344|PMID:20970104|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23506379|PMID:24039113|PMID:25326635|PMID:25326637|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26338144|PMID:26350204|PMID:27500536|PMID:27620904|PMID:28369444|PMID:28492532|PMID:28794916|PMID:30006928|PMID:30729724|PMID:32682435|PMID:34573309|PMID:36271811|PMID:8279489 8934488 Med12 mediator complex subunit 12 gene DOID:9001471 Anorectal Malformations ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anorectal stenosis PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 8934488 Med12 mediator complex subunit 12 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 8934488 Med12 mediator complex subunit 12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22610119|PMID:29610475 8934488 Med12 mediator complex subunit 12 gene DOID:9003401 Hardikar Syndrome ISO RGD:1350145 D RGD:7240710 20211222 OMIM 8934488 Med12 mediator complex subunit 12 gene DOID:9003401 Hardikar Syndrome ISO RGD:1350145 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome PMID:20301719|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30006928|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:9286458 8934488 Med12 mediator complex subunit 12 gene DOID:9004240 Phyllodes Tumor ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 8934488 Med12 mediator complex subunit 12 gene DOID:9004628 Ohdo Syndrome, X-Linked ISO RGD:1350145 D RGD:7240710 20180130 OMIM 8934488 Med12 mediator complex subunit 12 gene DOID:9004628 Ohdo Syndrome, X-Linked ISO RGD:1350145 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked PMID:10405444|PMID:16700052|PMID:17334363|PMID:17369503|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:23395478|PMID:24039113|PMID:24077912|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26338144|PMID:26350204|PMID:27500536|PMID:27620904|PMID:28369444|PMID:28492532|PMID:28794916|PMID:30006928|PMID:30729724|PMID:32371413|PMID:32682435|PMID:32715471|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34079076|PMID:34573309|PMID:36271811|PMID:8279489 8934488 Med12 mediator complex subunit 12 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1350145 D RGD:9068941 20200609 RGD DNA:duplication mutation:cds:c.5898dupC(p.S1967Qfs84)(human) PMID:24039113|REF_RGD_ID:12910947 8934488 Med12 mediator complex subunit 12 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1350145 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:2881C>T(p.R961W)(human) PMID:17334363|REF_RGD_ID:12910952 8934488 Med12 mediator complex subunit 12 gene DOID:9006947 Fibroadenoma ISO RGD:1350145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038752|PMID:26437033 8934488 Med12 mediator complex subunit 12 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350145 D RGD:7240710 20200226 OMIM 8934488 Med12 mediator complex subunit 12 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350145 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:10405444|PMID:10982179|PMID:16199547|PMID:16700052|PMID:17334363|PMID:17369503|PMID:17576681|PMID:18414213|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20507344|PMID:20981778|PMID:23091001|PMID:23395478|PMID:23506379|PMID:23757202|PMID:24033266|PMID:24039113|PMID:24077912|PMID:24715367|PMID:24728327|PMID:25326635|PMID:25326637|PMID:25644381|PMID:25741868|PMID:26273451|PMID:26338144|PMID:26350204|PMID:26467025|PMID:26813965|PMID:27081531|PMID:27286923|PMID:27312080|PMID:27500536|PMID:27620904|PMID:27980443|PMID:28369444|PMID:28492532|PMID:28544239|PMID:28794916|PMID:30006928|PMID:30729724|PMID:31322785|PMID:31536828|PMID:32174975|PMID:32371413|PMID:32410215|PMID:32682435|PMID:32715471|PMID:32779332|PMID:33023636|PMID:33244165|PMID:33244166|PMID:33913598|PMID:34008892|PMID:34079076|PMID:34573309|PMID:36271811|PMID:6711603|PMID:8279489|PMID:9286458|PMID:9536098 8934488 Med12 mediator complex subunit 12 gene DOID:9008086 Developmental Disabilities ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10405444|PMID:17334363|PMID:18691967|PMID:18805826|PMID:18973276|PMID:19938245|PMID:20301719|PMID:20981778|PMID:23091001|PMID:25326635|PMID:25741868|PMID:26350204|PMID:28369444|PMID:28492532 8934488 Med12 mediator complex subunit 12 gene DOID:9008939 Breast Neoplasms ISO RGD:1350145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 8934547 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:0080206 CAKUT1 ISO RGD:1604373 D RGD:7240710 20180130 OMIM 8934547 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:0080206 CAKUT1 ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 PMID:17273976|PMID:17576681|PMID:23862974|PMID:25741868|PMID:27657687|PMID:28492532|PMID:28566479|PMID:9536098 8934547 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:0110774 hereditary spastic paraplegia 23 ISO RGD:1604373 D RGD:7240710 20180130 OMIM 8934547 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:0110774 hereditary spastic paraplegia 23 ISO RGD:1604373 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 PMID:17273976|PMID:23862974|PMID:25741868|PMID:28492532|PMID:28566479|PMID:33624863 8934547 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1604373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8934547 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:12849 autistic disorder ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8934547 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:1540 parathyroid carcinoma ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8934547 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:630 genetic disease ISO RGD:1604373 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8934547 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:784 chronic kidney disease ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 8934547 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604373 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8934547 Dstyk dual serine/threonine and tyrosine protein kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8934565 Rmdn1 regulator of microtubule dynamics 1 gene DOID:630 genetic disease ISO RGD:1606009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934582 Gnai1 G protein subunit alpha i1 gene DOID:0060001 withdrawal disorder ISO RGD:730824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12199159 8934582 Gnai1 G protein subunit alpha i1 gene DOID:10914 amnestic disorder ISO RGD:730824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11350863 8934582 Gnai1 G protein subunit alpha i1 gene DOID:1826 epilepsy ISO RGD:730824 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461|PMID:25741868 8934582 Gnai1 G protein subunit alpha i1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8934582 Gnai1 G protein subunit alpha i1 gene DOID:630 genetic disease ISO RGD:730824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934582 Gnai1 G protein subunit alpha i1 gene DOID:9002595 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:730824 D RGD:7240710 20220706 OMIM 8934582 Gnai1 G protein subunit alpha i1 gene DOID:9002595 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES ISO RGD:730824 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities PMID:25741868|PMID:28135719|PMID:33473207|PMID:34819662 8934582 Gnai1 G protein subunit alpha i1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33473207 8934582 Gnai1 G protein subunit alpha i1 gene DOID:9008582 Developmental Disease ISO RGD:730824 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 PMID:25741868 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:1059 intellectual disability ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:11088 asphyxia neonatorum ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:15453273|REF_RGD_ID:9999183 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:14566 disease of cellular proliferation ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17353921 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:2048 autoimmune hepatitis ISO RGD:1606336 D RGD:9068941 20200609 RGD PMID:20208391|REF_RGD_ID:9999172 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:2048 autoimmune hepatitis ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:20208391|REF_RGD_ID:9999172 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:2055 post-traumatic stress disorder ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:25331812|REF_RGD_ID:13782181 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:2717 Bloom syndrome ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:5082 liver cirrhosis ISO RGD:68430 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:24562544|REF_RGD_ID:9999176 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:5082 liver cirrhosis severity ISO RGD:1606336 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:24562544|REF_RGD_ID:9999176 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:5434 scrapie ISO RGD:1553192 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:15772339|REF_RGD_ID:9999196 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:630 genetic disease ISO RGD:1606336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:6432 pulmonary hypertension ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:23315792|REF_RGD_ID:9999167 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:25741868 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:12872233|REF_RGD_ID:1624250 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:9007993 Dehydration ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:17412804|REF_RGD_ID:1642352 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:9256 colorectal cancer ISO RGD:1606336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:9778 irritable bowel syndrome ISO RGD:68430 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa: PMID:20367971|REF_RGD_ID:9999158 8934594 Pdia3 protein disulfide isomerase family A member 3 gene DOID:9778 irritable bowel syndrome severity ISO RGD:68430 D RGD:9068941 20200609 RGD PMID:26221224|REF_RGD_ID:13838729 8934610 Snrnp25 small nuclear ribonucleoprotein U11/U12 subunit 25 gene DOID:630 genetic disease ISO RGD:1322103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934619 Csnk2a2 casein kinase 2 alpha 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315751 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8934619 Csnk2a2 casein kinase 2 alpha 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315751 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8934619 Csnk2a2 casein kinase 2 alpha 2 gene DOID:12336 male infertility ISO RGD:1315752 D RGD:9068941 20220825 MouseDO 8934619 Csnk2a2 casein kinase 2 alpha 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1315751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8934619 Csnk2a2 casein kinase 2 alpha 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8934619 Csnk2a2 casein kinase 2 alpha 2 gene DOID:630 genetic disease ISO RGD:1315751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934619 Csnk2a2 casein kinase 2 alpha 2 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1315752 D RGD:9068941 20200609 RGD PMID:16651637|REF_RGD_ID:11565123 8934619 Csnk2a2 casein kinase 2 alpha 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1315751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:0050567 orofacial cleft ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip palate PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:620317 D RGD:9068941 20200609 RGD PMID:29031784|REF_RGD_ID:13831310 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:10582 Refsum disease ISO RGD:731796 D RGD:7240710 20180130 OMIM 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:10582 Refsum disease ISO RGD:731796 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: PHYH-related condition | ClinVar Annotator: match by term: Phytanic acid oxidase deficiency | ClinVar Annotator: match by term: Phytanic acid storage disease | ClinVar Annotator: match by term: Refsum syndrome PMID:10767344|PMID:11555634|PMID:1155634|PMID:11948235|PMID:14974078|PMID:16186124|PMID:16199547|PMID:17576681|PMID:17905308|PMID:18612766|PMID:20818383|PMID:24033266|PMID:25472526|PMID:25525159|PMID:25604618|PMID:25741868|PMID:27229527|PMID:28041643|PMID:28470644|PMID:28492532|PMID:28681609|PMID:31240149|PMID:31456290|PMID:32581362|PMID:34906470|PMID:9326939|PMID:9326940|PMID:9536098|PMID:9657395 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:10584 retinitis pigmentosa ISO RGD:731796 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10767344|PMID:11555634|PMID:1155634|PMID:11948235|PMID:14974078|PMID:17905308|PMID:18612766|PMID:20818383|PMID:25525159|PMID:25741868|PMID:28041643|PMID:28470644|PMID:28492532|PMID:28681609|PMID:31240149|PMID:32581362|PMID:34906470|PMID:9326939|PMID:9326940|PMID:9657395 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:630 genetic disease ISO RGD:731796 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10767344|PMID:11555634|PMID:1155634|PMID:14974078|PMID:25741868|PMID:28041643|PMID:28492532|PMID:34906470|PMID:9326939|PMID:9657395 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:8501 fundus dystrophy ISO RGD:731796 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10767344|PMID:11555634|PMID:14974078|PMID:16199547|PMID:20818383|PMID:25741868|PMID:28041643|PMID:28492532|PMID:32581362|PMID:9326940 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:9003094 Adult Refsum Disease, 1 ISO RGD:731796 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Refsum disease, adult, 1 PMID:10767344|PMID:11555634|PMID:1155634|PMID:11948235|PMID:14974078|PMID:17905308|PMID:18612766|PMID:2433405|PMID:25525159|PMID:25741868|PMID:28041643|PMID:28470644|PMID:28492532|PMID:28681609|PMID:31240149|PMID:34906470|PMID:9326939|PMID:9326940|PMID:9657395 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:731796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:28492532 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:905 Zellweger syndrome ISO RGD:731796 D RGD:9068941 20200609 RGD PMID:10709665|PMID:8954107|REF_RGD_ID:13831312|REF_RGD_ID:13831337 8934636 Phyh phytanoyl-CoA 2-hydroxylase gene DOID:906 peroxisomal disease ISO RGD:731796 D RGD:9068941 20200609 RGD PMID:9266377|REF_RGD_ID:13831311 8934652 Polr2e RNA polymerase II, I and III subunit E gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8934652 Polr2e RNA polymerase II, I and III subunit E gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1313437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 8934652 Polr2e RNA polymerase II, I and III subunit E gene DOID:5339 cyclic hematopoiesis ISO RGD:1313437 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8934652 Polr2e RNA polymerase II, I and III subunit E gene DOID:630 genetic disease ISO RGD:1313437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934652 Polr2e RNA polymerase II, I and III subunit E gene DOID:9007661 Dwarfism ISO RGD:1313437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8934664 Foxo1 forkhead box O1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:737155 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:26314988|PMID:29721381|PMID:35079069 8934664 Foxo1 forkhead box O1 gene DOID:0080147 lymphoblastic lymphoma ISO RGD:737156 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 8934664 Foxo1 forkhead box O1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:620283 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:30186875|REF_RGD_ID:14401598 8934664 Foxo1 forkhead box O1 gene DOID:10126 keratoconus ISO RGD:737155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291589 8934664 Foxo1 forkhead box O1 gene DOID:10283 prostate cancer disease_progression ISO RGD:737155 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors, also lower in tumor vs adjacent normal tissue (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 8934664 Foxo1 forkhead box O1 gene DOID:255 hemangioma ISO RGD:737156 D RGD:9068941 20221027 RGD PMID:17254969|REF_RGD_ID:155630604 8934664 Foxo1 forkhead box O1 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:737155 D RGD:7240710 20190315 OMIM 8934664 Foxo1 forkhead box O1 gene DOID:6000 congestive heart failure ISO RGD:737155 D RGD:9068941 20200609 RGD PMID:16952980|REF_RGD_ID:1582564 8934664 Foxo1 forkhead box O1 gene DOID:630 genetic disease ISO RGD:737155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934664 Foxo1 forkhead box O1 gene DOID:6432 pulmonary hypertension ISO RGD:737155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27663689 8934664 Foxo1 forkhead box O1 gene DOID:684 hepatocellular carcinoma ISO RGD:737155 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:28972178|REF_RGD_ID:14401599 8934664 Foxo1 forkhead box O1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620283 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:decreased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 8934664 Foxo1 forkhead box O1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8934664 Foxo1 forkhead box O1 gene DOID:9002644 Premature Aging ISO RGD:737156 D RGD:9068941 20200609 RGD PMID:23673876|REF_RGD_ID:10045361 8934664 Foxo1 forkhead box O1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:737155 D RGD:9068941 20240229 RGD protein:increased expression:liver (human) PMID:30009772|REF_RGD_ID:401976534 8934664 Foxo1 forkhead box O1 gene DOID:9007692 Insulin Resistance ISO RGD:620283 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue: PMID:16041833|REF_RGD_ID:1599150 8934664 Foxo1 forkhead box O1 gene DOID:9119 acute myeloid leukemia ISO RGD:737155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8934664 Foxo1 forkhead box O1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737156 D RGD:9068941 20200609 RGD protein:altered localization:nucleus, islet cell: PMID:22417654|REF_RGD_ID:10044264 8934664 Foxo1 forkhead box O1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:737156 D RGD:9068941 20200609 RGD PMID:20736318|REF_RGD_ID:10044265 8934664 Foxo1 forkhead box O1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737156 D RGD:9068941 20200609 RGD protein:altered localization:nucleus,liver cell: PMID:15546000|REF_RGD_ID:10045358 8934673 Dhx57 DExH-box helicase 57 gene DOID:0080690 RASopathy ISO RGD:1321188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8934673 Dhx57 DExH-box helicase 57 gene DOID:3883 Lynch syndrome ISO RGD:1321188 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8934673 Dhx57 DExH-box helicase 57 gene DOID:630 genetic disease ISO RGD:1321188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934673 Dhx57 DExH-box helicase 57 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8934707 Shld2 shieldin complex subunit 2 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1354134 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8934707 Shld2 shieldin complex subunit 2 gene DOID:0070217 familial hyperinsulinemic hypoglycemia 6 ISO RGD:1354134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome PMID:25741868|PMID:26467025|PMID:28492532 8934707 Shld2 shieldin complex subunit 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1354134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8934707 Shld2 shieldin complex subunit 2 gene DOID:2018 hyperinsulinism ISO RGD:1354134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant 8934707 Shld2 shieldin complex subunit 2 gene DOID:630 genetic disease ISO RGD:1354134 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8934707 Shld2 shieldin complex subunit 2 gene DOID:9351 diabetes mellitus ISO RGD:1354134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 8934727 Tpx2 TPX2 microtubule nucleation factor gene DOID:0080600 COVID-19 ISO RGD:1323589 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8934727 Tpx2 TPX2 microtubule nucleation factor gene DOID:630 genetic disease ISO RGD:1323589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934727 Tpx2 TPX2 microtubule nucleation factor gene DOID:684 hepatocellular carcinoma ISO RGD:1323589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:0060108 brain glioma susceptibility ISO RGD:1315699 D RGD:9068941 20230928 RGD DNA:SNP:exon 8: p.T241M (rs861539) (Human) PMID:18330515|REF_RGD_ID:401827274 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1315699 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:10763 hypertension susceptibility ISO RGD:1315699 D RGD:9068941 20230928 RGD DNA:SNP,haplotype:cd: p.T241M (rs861539) (human) PMID:25529925|REF_RGD_ID:401827819 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:1612 breast cancer ISO RGD:1315699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:12023982 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:1612 breast cancer susceptibility ISO RGD:1315699 D RGD:7240710 20240320 OMIM 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:1793 pancreatic cancer ISO RGD:1315699 D RGD:9068941 20200609 RGD DNA:SNP:cd:rs861539 (human) PMID:18559563|REF_RGD_ID:2317130 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:1909 melanoma ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11059748 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:2394 ovarian cancer ISO RGD:1315699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:2513 basal cell carcinoma ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16501254 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:3070 high grade glioma susceptibility ISO RGD:1315699 D RGD:9068941 20231026 RGD DNA:SNP:cd: p.T241M (rs861539) (Human) PMID:23534771|REF_RGD_ID:401850601 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1315699 D RGD:9068941 20230928 RGD DNA:SNP,haplotypes:exon 7: p.T241M (rs861539) (Human) PMID:23368530|REF_RGD_ID:401827273 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:3565 meningioma susceptibility ISO RGD:1315699 D RGD:9068941 20230928 RGD DNA:SNP:exon 8: p.T241M (rs861539) (Human) PMID:18330515|REF_RGD_ID:401827274 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:3620 central nervous system cancer susceptibility ISO RGD:1315699 D RGD:9068941 20231026 RGD DNA:SNP:cd: p.T241M (rs861539) (Human) PMID:23534771|REF_RGD_ID:401850601 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1315699 D RGD:9068941 20230928 RGD DNA:polymorphism:: (human) PMID:18712175|REF_RGD_ID:401827276 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:630 genetic disease ISO RGD:1315699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:6846 familial melanoma ISO RGD:1315699 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 PMID:11059748|PMID:28492532 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:6846 familial melanoma susceptibility ISO RGD:1315699 D RGD:7240710 20240320 OMIM 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21347786 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21347786 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9003566 Mesothelioma ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16564556 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9004464 Skin Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11059748|PMID:16501254 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:1315699 D RGD:9068941 20230928 RGD associated with hypertension; DNA:SNP:exon 7: p.T241M (rs861539) (Human) PMID:29626209|REF_RGD_ID:401827272 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283680 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9008914 Lead Poisoning ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23803535 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1315699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12023982 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1315699 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 8934762 Xrcc3 X-ray repair cross complementing 3 gene DOID:9538 multiple myeloma disease_progression ISO RGD:1315699 D RGD:9068941 20230928 RGD DNA:SNP,haplotype:: p.T241M (rs861535) (Human) PMID:17131345|REF_RGD_ID:401827277 8934787 Map9 microtubule associated protein 9 gene DOID:630 genetic disease ISO RGD:1605620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934805 Zfand2a zinc finger AN1-type containing 2A gene DOID:630 genetic disease ISO RGD:1604554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934816 Fh fumarate hydratase gene DOID:0080600 COVID-19 ISO RGD:735599 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8934816 Fh fumarate hydratase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified PMID:25741868|PMID:28492532 8934816 Fh fumarate hydratase gene DOID:0111261 fumarase deficiency ISO RGD:735599 D RGD:7240710 20180130 OMIM 8934816 Fh fumarate hydratase gene DOID:0111261 fumarase deficiency ISO RGD:735599 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:10896297|PMID:11865300|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16151915|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16876016|PMID:17182618|PMID:17270241|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18503824|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22127509|PMID:22382802|PMID:22595425|PMID:22677546|PMID:22703879|PMID:2314594|PMID:23211287|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24441663|PMID:24728327|PMID:25004247|PMID:25477250|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25790038|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26237645|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:27037871|PMID:27454940|PMID:27541980|PMID:28196407|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28592321|PMID:28747166|PMID:28748451|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29641532|PMID:29893455|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31162287|PMID:31444830|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32371905|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33052056|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33604570|PMID:33789101|PMID:33858029|PMID:33927380|PMID:34156580|PMID:34308104|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34654685|PMID:34750850|PMID:34994643|PMID:35441217|PMID:35626031|PMID:35821608|PMID:35993574|PMID:36315513|PMID:36773955|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293 8934816 Fh fumarate hydratase gene DOID:10907 microcephaly ISO RGD:735599 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26467025|PMID:28492532|PMID:30548481 8934816 Fh fumarate hydratase gene DOID:13223 uterine fibroid ISO RGD:735599 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma PMID:11865300|PMID:21398687|PMID:25741868|PMID:28492532 8934816 Fh fumarate hydratase gene DOID:1540 parathyroid carcinoma ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8934816 Fh fumarate hydratase gene DOID:1612 breast cancer ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast 8934816 Fh fumarate hydratase gene DOID:2394 ovarian cancer ISO RGD:735599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:30548481|PMID:33397043 8934816 Fh fumarate hydratase gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735599 D RGD:9068941 20210820 RGD DNA:SNP: (rs1414493) (human) PMID:25576295|REF_RGD_ID:150340558 8934816 Fh fumarate hydratase gene DOID:5132 leiomyoma cutis ISO RGD:735599 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Multiple cutaneous leiomyomas PMID:11865300|PMID:12761039|PMID:12772087|PMID:16199547|PMID:16237213|PMID:16575891|PMID:21398687|PMID:22069215|PMID:22595425|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29052812|PMID:29909963|PMID:32612247|PMID:33063682|PMID:34196900 8934816 Fh fumarate hydratase gene DOID:630 genetic disease ISO RGD:735599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11865300|PMID:21398687|PMID:28492532|PMID:33063682 8934816 Fh fumarate hydratase gene DOID:684 hepatocellular carcinoma ISO RGD:735599 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:10896297|PMID:15221078|PMID:16876016|PMID:17182618|PMID:18313410|PMID:19151755|PMID:20301679|PMID:21445611|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28747166 8934816 Fh fumarate hydratase gene DOID:687 hepatoblastoma ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 8934816 Fh fumarate hydratase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8934816 Fh fumarate hydratase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:735599 D RGD:7240710 20180130 OMIM 8934816 Fh fumarate hydratase gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:735599 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FH-related condition | ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:10896297|PMID:11865300|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:16881969|PMID:17182618|PMID:17270241|PMID:17392716|PMID:17576681|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18414213|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19939761|PMID:19967458|PMID:20109171|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22677546|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25790038|PMID:25852058|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26237645|PMID:26296701|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26900816|PMID:26945337|PMID:27037871|PMID:27541980|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28592321|PMID:28747166|PMID:28748451|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29174943|PMID:29423582|PMID:29456767|PMID:29530542|PMID:29625052|PMID:29641532|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31162287|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33052056|PMID:33063682|PMID:33166576|PMID:33167498|PMID:33402335|PMID:33439686|PMID:33442023|PMID:33606809|PMID:33789101|PMID:33858029|PMID:33927380|PMID:34196900|PMID:34308104|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34654685|PMID:34994643|PMID:35163394|PMID:35216667|PMID:35251648|PMID:35441217|PMID:35626031|PMID:35806449|PMID:35874919|PMID:35993574|PMID:36315513|PMID:36451132|PMID:36773955|PMID:37053010|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293 8934816 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10896297|PMID:11585823|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19339519|PMID:19939761|PMID:20231875|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25525159|PMID:25613812|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31746132|PMID:31831373|PMID:32463173|PMID:32612247|PMID:33125697|PMID:33167498|PMID:33362715|PMID:34604083|PMID:8007976|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 8934816 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10896297|PMID:11585823|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19339519|PMID:19939761|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25525159|PMID:25613812|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31746132|PMID:31831373|PMID:32463173|PMID:32612247|PMID:33125697|PMID:33167498|PMID:33362715|PMID:34604083|PMID:34994643|PMID:8007976|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 8934816 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10896297|PMID:11585823|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19339519|PMID:19939761|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:24182348|PMID:24334767|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25525159|PMID:25613812|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29909963|PMID:30050099|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31746132|PMID:31831373|PMID:32463173|PMID:32612247|PMID:33125697|PMID:33167498|PMID:33362715|PMID:34604083|PMID:34994643|PMID:8007976|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 8934816 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33461594|PMID:33789101|PMID:33858029|PMID:34337822|PMID:34604083|PMID:34994643|PMID:35216667|PMID:35874919|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 8934816 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25326637|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33461594|PMID:33606809|PMID:33789101|PMID:33858029|PMID:34156580|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34994643|PMID:35216667|PMID:35874919|PMID:36773955|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 8934816 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20560959|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22677546|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25326637|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26237645|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32371905|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33461594|PMID:33606809|PMID:33789101|PMID:33858029|PMID:34156580|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34994643|PMID:35216667|PMID:35874919|PMID:35993574|PMID:36773955|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 8934816 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20560959|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22677546|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26237645|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32371905|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33461594|PMID:33606809|PMID:33789101|PMID:33858029|PMID:34156580|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34994643|PMID:35216667|PMID:35874919|PMID:35993574|PMID:36773955|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 8934816 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:16972175|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20560959|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22677546|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26237645|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29423582|PMID:29456767|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32371905|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33439686|PMID:33461594|PMID:33606809|PMID:33789101|PMID:33858029|PMID:34156580|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34654685|PMID:34750850|PMID:34994643|PMID:35216667|PMID:35441217|PMID:35874919|PMID:35993574|PMID:36773955|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 8934816 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:16972175|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20109171|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20560959|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22677546|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26237645|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29174943|PMID:29423582|PMID:29456767|PMID:29530542|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31162287|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32371905|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33402335|PMID:33439686|PMID:33461594|PMID:33606809|PMID:33789101|PMID:33858029|PMID:34156580|PMID:34337822|PMID:34604083|PMID:34643235|PMID:34654685|PMID:34750850|PMID:34994643|PMID:35216667|PMID:35251648|PMID:35441217|PMID:35874919|PMID:35993574|PMID:36773955|PMID:37053010|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 8934816 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:16972175|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20109171|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20560959|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22677546|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25790038|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25964426|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26237645|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28748451|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29174943|PMID:29423582|PMID:29456767|PMID:29530542|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31162287|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32371905|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33052056|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33402335|PMID:33439686|PMID:33461594|PMID:33606809|PMID:33789101|PMID:33858029|PMID:33927380|PMID:34156580|PMID:34196900|PMID:34308104|PMID:34337822|PMID:34480341|PMID:34604083|PMID:34643235|PMID:34654685|PMID:34750850|PMID:34994643|PMID:35216667|PMID:35251648|PMID:35441217|PMID:35626031|PMID:35874919|PMID:35993574|PMID:36315513|PMID:36773955|PMID:37053010|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 8934816 Fh fumarate hydratase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735599 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10896297|PMID:11865300|PMID:12183404|PMID:12761039|PMID:12772087|PMID:14632190|PMID:15|PMID:15221078|PMID:15663510|PMID:15761418|PMID:15937070|PMID:15987702|PMID:16029320|PMID:16151915|PMID:16155190|PMID:16199547|PMID:16206287|PMID:16237213|PMID:16309500|PMID:16403393|PMID:16510303|PMID:16575891|PMID:16597677|PMID:16639410|PMID:16757530|PMID:16876016|PMID:16972175|PMID:17182618|PMID:17392716|PMID:17576681|PMID:17768033|PMID:17908262|PMID:17960613|PMID:18176756|PMID:18313410|PMID:18366737|PMID:18514489|PMID:19151755|PMID:19183174|PMID:19339519|PMID:19470762|PMID:19939761|PMID:19967458|PMID:20056206|PMID:20109171|PMID:20231875|PMID:20301679|PMID:20549362|PMID:20560959|PMID:20618355|PMID:21051878|PMID:21304509|PMID:21340633|PMID:21398687|PMID:21404119|PMID:21445611|PMID:21447597|PMID:21520333|PMID:21560188|PMID:21630274|PMID:21733559|PMID:21904061|PMID:21929734|PMID:22069215|PMID:22086304|PMID:22127509|PMID:22243733|PMID:22473397|PMID:22528940|PMID:22561013|PMID:22565324|PMID:22595425|PMID:22677546|PMID:22703879|PMID:22764886|PMID:22982371|PMID:2314594|PMID:23203078|PMID:23211287|PMID:23320739|PMID:23443020|PMID:23612258|PMID:23707781|PMID:24182348|PMID:24334767|PMID:24346898|PMID:24419633|PMID:24441663|PMID:24526232|PMID:24625422|PMID:24684806|PMID:24728327|PMID:25004247|PMID:25292446|PMID:25477250|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25750977|PMID:25790038|PMID:25852058|PMID:25913776|PMID:25923021|PMID:25964426|PMID:25985877|PMID:26023681|PMID:26113603|PMID:26173633|PMID:26237645|PMID:26323704|PMID:26457356|PMID:26467025|PMID:26493120|PMID:26556299|PMID:26574848|PMID:26580448|PMID:26700204|PMID:26900816|PMID:26945337|PMID:26983443|PMID:27037871|PMID:27187686|PMID:27454940|PMID:27541980|PMID:28266706|PMID:28300276|PMID:28371217|PMID:28400895|PMID:28492532|PMID:28747166|PMID:28748451|PMID:28825054|PMID:28873162|PMID:29052812|PMID:29174943|PMID:29423582|PMID:29456767|PMID:29530542|PMID:29625052|PMID:29641532|PMID:29655270|PMID:29893455|PMID:29909963|PMID:29978187|PMID:30050099|PMID:30171332|PMID:30548481|PMID:30741757|PMID:30761759|PMID:30877234|PMID:30967997|PMID:31162287|PMID:31299266|PMID:31444830|PMID:31524643|PMID:31564060|PMID:31636096|PMID:31746132|PMID:31794323|PMID:31831373|PMID:32008151|PMID:32012241|PMID:32154112|PMID:32371905|PMID:32376712|PMID:32463173|PMID:32612247|PMID:32782288|PMID:32808982|PMID:32999401|PMID:33052056|PMID:33063682|PMID:33125697|PMID:33166576|PMID:33167498|PMID:33362715|PMID:33397043|PMID:33402335|PMID:33439686|PMID:33461594|PMID:33606809|PMID:33789101|PMID:33858029|PMID:33927380|PMID:34156580|PMID:34196900|PMID:34308104|PMID:34337822|PMID:34480341|PMID:34604083|PMID:34643235|PMID:34654685|PMID:34750850|PMID:34994643|PMID:35163394|PMID:35216667|PMID:35251648|PMID:35441217|PMID:35626031|PMID:35821608|PMID:35874919|PMID:35993574|PMID:36315513|PMID:36451132|PMID:36773955|PMID:36777509|PMID:37053010|PMID:8200987|PMID:9300800|PMID:9536098|PMID:9635293|PMID:9665847 8934816 Fh fumarate hydratase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8934830 CUNH9orf50 chromosome unknown C9orf50 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606874 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8934830 CUNH9orf50 chromosome unknown C9orf50 homolog gene DOID:630 genetic disease ISO RGD:1606874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934841 Pak1ip1 PAK1 interacting protein 1 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1353310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 8934841 Pak1ip1 PAK1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1353310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934859 Lclat1 lysocardiolipin acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1347425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934879 Itgax integrin subunit alpha X gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1348968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 8934879 Itgax integrin subunit alpha X gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1348968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8934879 Itgax integrin subunit alpha X gene DOID:630 genetic disease ISO RGD:1348968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934912 Guca1b guanylate cyclase activator 1B gene DOID:0050444 infantile Refsum disease ISO RGD:1317826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8934912 Guca1b guanylate cyclase activator 1B gene DOID:0050572 cone-rod dystrophy ISO RGD:1317826 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:24352742|PMID:25741868 8934912 Guca1b guanylate cyclase activator 1B gene DOID:0050795 cone dystrophy ISO RGD:1317826 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:15505030|PMID:25741868|PMID:28492532 8934912 Guca1b guanylate cyclase activator 1B gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1317826 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:15505030|PMID:24352742|PMID:25741868|PMID:28492532 8934912 Guca1b guanylate cyclase activator 1B gene DOID:0110382 retinitis pigmentosa 48 ISO RGD:1317826 D RGD:7240710 20180130 OMIM 8934912 Guca1b guanylate cyclase activator 1B gene DOID:0110382 retinitis pigmentosa 48 ISO RGD:1317826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 48 PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532|PMID:33812995 8934912 Guca1b guanylate cyclase activator 1B gene DOID:10584 retinitis pigmentosa ISO RGD:1317826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532 8934912 Guca1b guanylate cyclase activator 1B gene DOID:10584 retinitis pigmentosa ISO RGD:1317826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15452722|PMID:15505030|PMID:22025579|PMID:25741868|PMID:26161267|PMID:28492532|PMID:33812995 8934912 Guca1b guanylate cyclase activator 1B gene DOID:14791 Leber congenital amaurosis ISO RGD:1317826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:28492532 8934912 Guca1b guanylate cyclase activator 1B gene DOID:630 genetic disease ISO RGD:1317826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8934912 Guca1b guanylate cyclase activator 1B gene DOID:8501 fundus dystrophy ISO RGD:1317826 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24352742|PMID:25741868 8934912 Guca1b guanylate cyclase activator 1B gene DOID:905 Zellweger syndrome ISO RGD:1317826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8934920 Mrps10 mitochondrial ribosomal protein S10 gene DOID:0050444 infantile Refsum disease ISO RGD:1323017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8934920 Mrps10 mitochondrial ribosomal protein S10 gene DOID:630 genetic disease ISO RGD:1323017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934920 Mrps10 mitochondrial ribosomal protein S10 gene DOID:905 Zellweger syndrome ISO RGD:1323017 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1348300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0080690 RASopathy ISO RGD:1348300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1348300 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:5419 schizophrenia ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:630 genetic disease ISO RGD:1348300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9006238 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy ISO RGD:1348300 D RGD:7240710 20200318 OMIM 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9006238 Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy ISO RGD:1348300 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy PMID:25741868|PMID:31794024|PMID:32125366|PMID:32901138|PMID:34878169 8934931 Trappc4 trafficking protein particle complex subunit 4 gene DOID:9007661 Dwarfism ISO RGD:1348300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8934951 Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:0050534 congenital stationary night blindness ISO RGD:1605227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:25741868|PMID:28492532 8934951 Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:0050817 Stargardt disease ISO RGD:1605227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:27428514|PMID:28492532 8934951 Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:0110864 congenital stationary night blindness 1F ISO RGD:1605227 D RGD:7240710 20180130 OMIM 8934951 Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:0110864 congenital stationary night blindness 1F ISO RGD:1605227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1F PMID:22673519|PMID:23246293|PMID:25741868|PMID:28492532 8934951 Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 gene DOID:630 genetic disease ISO RGD:1605227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8934962 Xirp1 xin actin binding repeat containing 1 gene DOID:10907 microcephaly ISO RGD:1312413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Classical primary microcephaly PMID:25558065|PMID:25741868 8934962 Xirp1 xin actin binding repeat containing 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312414 D RGD:9068941 20220825 MouseDO 8934962 Xirp1 xin actin binding repeat containing 1 gene DOID:630 genetic disease ISO RGD:1312413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934962 Xirp1 xin actin binding repeat containing 1 gene DOID:9000046 Poisoning ISO RGD:1312413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21964422 8934982 Vamp4 vesicle associated membrane protein 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8934982 Vamp4 vesicle associated membrane protein 4 gene DOID:630 genetic disease ISO RGD:1320258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8934982 Vamp4 vesicle associated membrane protein 4 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8934982 Vamp4 vesicle associated membrane protein 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8934982 Vamp4 vesicle associated membrane protein 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:0060041 autism spectrum disorder ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344336 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:12849 autistic disorder ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:630 genetic disease ISO RGD:1344336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26350515|PMID:27087320|PMID:28492532 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:674 cleft palate ISO RGD:1552225 D RGD:9068941 20230608 RGD PMID:33772547|REF_RGD_ID:329849004 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344336 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:8466 retinal degeneration ISO RGD:1552225 D RGD:9068941 20230615 RGD PMID:33742727|REF_RGD_ID:329849117 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344336 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:27087320|PMID:28492532 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:9004468 Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart ISO RGD:1344336 D RGD:7240710 20190315 OMIM 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:9004468 Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart ISO RGD:1344336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | ClinVar Annotator: match by term: RERE-related condition PMID:25741868|PMID:26350515|PMID:27087320|PMID:28492532|PMID:29330883 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515|PMID:27087320 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:9008086 Developmental Disabilities ISO RGD:1344336 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8935000 Rere arginine-glutamic acid dipeptide repeats gene DOID:9008582 Developmental Disease ISO RGD:1344336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8935078 Dusp29 dual specificity phosphatase 29 gene DOID:630 genetic disease ISO RGD:1321010 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935078 Dusp29 dual specificity phosphatase 29 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1321010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 8935083 Pter phosphotriesterase related gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8935083 Pter phosphotriesterase related gene DOID:1909 melanoma ISO RGD:1352492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8935083 Pter phosphotriesterase related gene DOID:630 genetic disease ISO RGD:1352492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935083 Pter phosphotriesterase related gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8935083 Pter phosphotriesterase related gene DOID:9007188 Liver Neoplasms ISO RGD:1352492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 8935097 Hbs1l HBS1 like translational GTPase gene DOID:12241 beta thalassemia ISO RGD:1318318 D RGD:9068941 20200609 RGD DNA:SNP:exon:32C>T (human) PMID:18839276|REF_RGD_ID:11353877 8935097 Hbs1l HBS1 like translational GTPase gene DOID:630 genetic disease ISO RGD:1318318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935097 Hbs1l HBS1 like translational GTPase gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1318318 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8935129 Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1352369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8935129 Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:2841 asthma ISO RGD:1352369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21150878|PMID:25256354 8935129 Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:630 genetic disease ISO RGD:1352369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935129 Ormdl3 ORMDL sphingolipid biosynthesis regulator 3 gene DOID:8577 ulcerative colitis ISO RGD:1352369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 8935149 Fech ferrochelatase gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316819 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8935149 Fech ferrochelatase gene DOID:0111988 immunodeficiency 12 ISO RGD:1316819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8935149 Fech ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10464147|PMID:12950064|PMID:15284838|PMID:15793285|PMID:17600043|PMID:29906468 8935149 Fech ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD DNA:mutation:introns:IVS3-48C(human) PMID:26280465|REF_RGD_ID:14700883 8935149 Fech ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:10942404|REF_RGD_ID:14700886 8935149 Fech ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD DNA:mutations:introns:IVS-48C,IVS1-23T(human) PMID:26789144|REF_RGD_ID:11556165 8935149 Fech ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316820 D RGD:9068941 20200609 RGD PMID:19787086|REF_RGD_ID:14700889 8935149 Fech ferrochelatase gene DOID:13270 erythropoietic protoporphyria ISO RGD:1316820 D RGD:9068941 20220825 MouseDO OMIM:177000 | OMIM:300752 8935149 Fech ferrochelatase gene DOID:13271 cutaneous porphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD DNA:transitions, frameshift mutations:exon:multiple (human) PMID:8601739|REF_RGD_ID:1598932 8935149 Fech ferrochelatase gene DOID:13271 cutaneous porphyria ISO RGD:1316819 D RGD:9068941 20200609 RGD protein:decreased activity:skin fibroblast, liver (human) PMID:1184741|REF_RGD_ID:4145285 8935149 Fech ferrochelatase gene DOID:234 colon adenocarcinoma ISO RGD:1316819 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:28075030|REF_RGD_ID:14700888 8935149 Fech ferrochelatase gene DOID:4138 bile duct disease ISO RGD:1316819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10464147 8935149 Fech ferrochelatase gene DOID:630 genetic disease ISO RGD:1316819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8935149 Fech ferrochelatase gene DOID:9000784 Fibrosis ISO RGD:1316819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10464147 8935149 Fech ferrochelatase gene DOID:9004435 Erythropoietic Protoporphyria 1 ISO RGD:1316819 D RGD:7240710 20190327 OMIM 8935149 Fech ferrochelatase gene DOID:9004435 Erythropoietic Protoporphyria 1 ISO RGD:1316819 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Increased erythrocyte protoporphyrin concentration | ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 PMID:10431482|PMID:10942404|PMID:11753383|PMID:12063482|PMID:12601550|PMID:1376018|PMID:14669009|PMID:15286165|PMID:15574461|PMID:16199547|PMID:16385445|PMID:16844398|PMID:16958804|PMID:17196862|PMID:1729699|PMID:1755842|PMID:17576681|PMID:17711525|PMID:17875872|PMID:18758989|PMID:18787536|PMID:19298273|PMID:20105171|PMID:21132468|PMID:22591014|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:28614581|PMID:29941360|PMID:3047929|PMID:30594473|PMID:31304091|PMID:33021473|PMID:33275677|PMID:3940245|PMID:7541650|PMID:7910885|PMID:8151124|PMID:8242081|PMID:8276828|PMID:8481408|PMID:8500787|PMID:8601739|PMID:9536098|PMID:9585598|PMID:9649563 8935149 Fech ferrochelatase gene DOID:9004898 Jaundice ISO RGD:1316819 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Jaundice PMID:11753383|PMID:14669009|PMID:16385445|PMID:16958804|PMID:1729699|PMID:17875872|PMID:18758989|PMID:20105171|PMID:21132468|PMID:22591014|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:30594473|PMID:31304091 8935149 Fech ferrochelatase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1307556 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:6721832|REF_RGD_ID:4144806 8935149 Fech ferrochelatase gene DOID:9009003 Erythropoietic Protoporphyria 2 ISO RGD:1316819 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria PMID:11753383|PMID:14669009|PMID:16385445|PMID:16958804|PMID:1729699|PMID:17875872|PMID:18758989|PMID:20105171|PMID:21132468|PMID:22591014|PMID:23016163|PMID:23364466|PMID:24033266|PMID:25741868|PMID:26280465|PMID:28054335|PMID:28093505|PMID:28492532|PMID:29941360|PMID:30594473|PMID:31304091 8935194 Casr calcium sensing receptor gene DOID:0050450 Gitelman syndrome ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia 8935194 Casr calcium sensing receptor gene DOID:0050700 cardiomyopathy ISO RGD:2277 D RGD:9068941 20200609 RGD associated with Uremia PMID:19188910|REF_RGD_ID:7205661 8935194 Casr calcium sensing receptor gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:10291 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:10023897|PMID:10077597|PMID:10217111|PMID:10468915|PMID:10488104|PMID:10770217|PMID:10843194|PMID:10885494|PMID:10912749|PMID:10912782|PMID:10971459|PMID:11013439|PMID:11089548|PMID:11102444|PMID:11136551|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11668634|PMID:11701698|PMID:11733622|PMID:11762699|PMID:11763315|PMID:11807402|PMID:11889154|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12067826|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12162500|PMID:12191970|PMID:12239240|PMID:12574188|PMID:12574201|PMID:12580936|PMID:12733714|PMID:12890593|PMID:1302026|PMID:14089114|PMID:14508624|PMID:14519094|PMID:14602739|PMID:14714270|PMID:14985373|PMID:14997007|PMID:15201280|PMID:15241688|PMID:15292296|PMID:15531522|PMID:15551332|PMID:15572418|PMID:15591042|PMID:15598778|PMID:15699544|PMID:15751724|PMID:15864123|PMID:15879434|PMID:15963484|PMID:16128246|PMID:16147994|PMID:16199547|PMID:16491288|PMID:16497624|PMID:16598859|PMID:16642557|PMID:16649980|PMID:16740594|PMID:16918956|PMID:17018660|PMID:17039419|PMID:1706284|PMID:17117288|PMID:17121537|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17576681|PMID:17698911|PMID:17803689|PMID:17974727|PMID:17979873|PMID:18219222|PMID:18296474|PMID:18328986|PMID:18410554|PMID:18680227|PMID:18751724|PMID:18756473|PMID:18796518|PMID:18830196|PMID:18887540|PMID:1889203|PMID:18938753|PMID:19073830|PMID:19102677|PMID:19179454|PMID:19389809|PMID:19423559|PMID:19549694|PMID:19694204|PMID:19759318|PMID:19763152|PMID:19779033|PMID:19789209|PMID:19953642|PMID:20034274|PMID:20119591|PMID:20164288|PMID:20307669|PMID:20335782|PMID:20335783|PMID:20374733|PMID:20495831|PMID:20501971|PMID:20602573|PMID:20668040|PMID:20697181|PMID:20798521|PMID:20972686|PMID:21135065|PMID:21175100|PMID:21185797|PMID:21239511|PMID:21289269|PMID:21310873|PMID:21369680|PMID:21414629|PMID:21441391|PMID:21471599|PMID:21521328|PMID:21645025|PMID:21844754|PMID:22024717|PMID:22142470|PMID:22187299|PMID:22192860|PMID:22232026|PMID:22331334|PMID:22406018|PMID:22422767|PMID:22620673|PMID:22789683|PMID:22798347|PMID:23077345|PMID:23081733|PMID:23169696|PMID:23186954|PMID:23265383|PMID:23372019|PMID:23764372|PMID:23856262|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24244430|PMID:24297799|PMID:24394414|PMID:24517148|PMID:24735972|PMID:2476381|PMID:24763815|PMID:24823460|PMID:24854525|PMID:24947037|PMID:24948345|PMID:25039540|PMID:25045523|PMID:25091521|PMID:25104082|PMID:25137426|PMID:25292184|PMID:25320261|PMID:25420019|PMID:25506941|PMID:25701758|PMID:25705702|PMID:25741868|PMID:25765207|PMID:25766501|PMID:25792032|PMID:25828954|PMID:25977473|PMID:25985138|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26290606|PMID:26323216|PMID:26467025|PMID:26646938|PMID:26855056|PMID:26963950|PMID:27086061|PMID:27157104|PMID:27390877|PMID:27418061|PMID:27434672|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:28870973|PMID:29026550|PMID:29354167|PMID:29375828|PMID:2983592|PMID:29846619|PMID:29848507|PMID:30019023|PMID:30052933|PMID:30306783|PMID:30407919|PMID:30470382|PMID:30496603|PMID:30895164|PMID:31063613|PMID:31189130|PMID:31328266|PMID:31433865|PMID:31433868|PMID:31672324|PMID:3169696|PMID:31883284|PMID:31967040|PMID:32160303|PMID:32347971|PMID:32375028|PMID:3237971|PMID:32386559|PMID:32430905|PMID:32593617|PMID:32638038|PMID:32761341|PMID:32775520|PMID:32871939|PMID:32892159|PMID:33094630|PMID:33112267|PMID:33147586|PMID:33258288|PMID:33434173|PMID:34008892|PMID:34024353|PMID:34088669|PMID:34160437|PMID:34659108|PMID:34714514|PMID:34772415|PMID:34887979|PMID:34906475|PMID:34913197|PMID:34993031|PMID:35242665|PMID:35300448|PMID:35318962|PMID:35733207|PMID:35818129|PMID:3966479|PMID:6543841|PMID:7054696|PMID:7717399|PMID:7726161|PMID:7791841|PMID:7874174|PMID:791660|PMID:7916660|PMID:8132750|PMID:8636323|PMID:8675635|PMID:8698326|PMID:8702647|PMID:8733126|PMID:8813042|PMID:8878438|PMID:9011580|PMID:9039332|PMID:9109436 8935194 Casr calcium sensing receptor gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:10291 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:9179454|PMID:9217223|PMID:9253359|PMID:9395465|PMID:9422777|PMID:9507434|PMID:9536098|PMID:9661634 8935194 Casr calcium sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:10291 D RGD:7240710 20240313 OMIM 8935194 Casr calcium sensing receptor gene DOID:0060700 familial hypocalciuric hypercalcemia 1 ISO RGD:10291 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 PMID:10023897|PMID:10077597|PMID:10217111|PMID:10468915|PMID:10770217|PMID:10843194|PMID:10885494|PMID:10912749|PMID:10912782|PMID:10971459|PMID:11013439|PMID:11102444|PMID:11134112|PMID:11136551|PMID:11161843|PMID:11231970|PMID:11248745|PMID:11580999|PMID:11668634|PMID:11701698|PMID:11733622|PMID:11762699|PMID:11763315|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12067826|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12239240|PMID:12469911|PMID:12574201|PMID:12580936|PMID:12733714|PMID:12890593|PMID:1302026|PMID:14089114|PMID:14508624|PMID:14985373|PMID:14997007|PMID:15201280|PMID:15292296|PMID:15531522|PMID:15572418|PMID:15579740|PMID:15591042|PMID:15598778|PMID:15699544|PMID:15751724|PMID:15864123|PMID:15879434|PMID:16147994|PMID:16199547|PMID:16491288|PMID:16497624|PMID:16598859|PMID:16642557|PMID:16740594|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17698911|PMID:17803689|PMID:17974727|PMID:17979873|PMID:18328986|PMID:18680227|PMID:18751724|PMID:18756473|PMID:18796518|PMID:18830196|PMID:18887540|PMID:1889203|PMID:18938753|PMID:19073830|PMID:19102677|PMID:19179454|PMID:19389809|PMID:19423559|PMID:19694204|PMID:19759318|PMID:19779033|PMID:20119591|PMID:20164288|PMID:20290361|PMID:20602573|PMID:20668040|PMID:20798521|PMID:20972686|PMID:21239511|PMID:21289269|PMID:21310873|PMID:21369680|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:2211966|PMID:22142470|PMID:22192860|PMID:22232026|PMID:22331334|PMID:22422767|PMID:22789683|PMID:22798347|PMID:23077345|PMID:23169696|PMID:23372019|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24297799|PMID:24947037|PMID:25091521|PMID:25104082|PMID:25137426|PMID:25292184|PMID:25420019|PMID:25506941|PMID:25701758|PMID:25705702|PMID:25741868|PMID:25792032|PMID:25828954|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26855056|PMID:26963950|PMID:27086061|PMID:27157104|PMID:27434672|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29026550|PMID:29846619|PMID:29848507|PMID:30407919|PMID:30895164|PMID:31433868|PMID:31672324|PMID:32347971|PMID:3237971|PMID:32386559|PMID:32430905|PMID:32638038|PMID:32761341|PMID:32892159|PMID:33112267|PMID:33258288|PMID:34008892|PMID:34024353|PMID:34088669|PMID:34993031|PMID:35300448|PMID:35318962|PMID:3966479|PMID:5013415|PMID:6543841|PMID:7054696|PMID:7673400|PMID:7717399|PMID:7726161|PMID:7791841|PMID:7874174|PMID:791660|PMID:7916660|PMID:8132750|PMID:8636323|PMID:8675635|PMID:8702647|PMID:8733126|PMID:8878438|PMID:9011580|PMID:9109436|PMID:9395465|PMID:9422777 8935194 Casr calcium sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R990G (rs1042636)(human) PMID:17018660|REF_RGD_ID:13464331 8935194 Casr calcium sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A986S, p.E1011Q (human) PMID:20602573|REF_RGD_ID:7205445 8935194 Casr calcium sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS4+11988A>G rs17251221 (human) PMID:21966463|REF_RGD_ID:7205446 8935194 Casr calcium sensing receptor gene DOID:0080652 calcium oxalate nephrolithiasis susceptibility ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Hyperparathyroidism, Primary; DNA:snp:intron:IVS1 G>A rs1501899 (human) PMID:21183554|REF_RGD_ID:7205447 8935194 Casr calcium sensing receptor gene DOID:0090107 autosomal dominant hypocalcemia 1 ISO RGD:10291 D RGD:7240710 20240313 OMIM 8935194 Casr calcium sensing receptor gene DOID:0090107 autosomal dominant hypocalcemia 1 ISO RGD:10291 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL PMID:10023897|PMID:10077597|PMID:10217111|PMID:10487661|PMID:10770217|PMID:10912749|PMID:10912782|PMID:11013439|PMID:11102444|PMID:11134112|PMID:11136551|PMID:11152759|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11701698|PMID:11733622|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12050233|PMID:12052452|PMID:12067826|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12162500|PMID:12191970|PMID:12239240|PMID:12241879|PMID:12574188|PMID:12574201|PMID:12733714|PMID:12890593|PMID:12915654|PMID:1302026|PMID:14508624|PMID:14519094|PMID:14985373|PMID:14997007|PMID:15201280|PMID:15292296|PMID:15531522|PMID:15572418|PMID:15591042|PMID:15598778|PMID:15699544|PMID:15751724|PMID:15864123|PMID:15879434|PMID:16128246|PMID:16497624|PMID:16608894|PMID:16649980|PMID:17018660|PMID:17039419|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17576681|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18751724|PMID:18756473|PMID:19179454|PMID:19389809|PMID:19694204|PMID:19759318|PMID:19779033|PMID:20119591|PMID:20164288|PMID:20501971|PMID:20602573|PMID:20668040|PMID:21239511|PMID:21289269|PMID:21414629|PMID:21441391|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:22789683|PMID:22798347|PMID:23077345|PMID:23186954|PMID:23372019|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24244430|PMID:24297799|PMID:24823460|PMID:24854525|PMID:24948345|PMID:25091521|PMID:25137426|PMID:25292184|PMID:25326635|PMID:25420019|PMID:25506941|PMID:25701758|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26323216|PMID:26467025|PMID:26646938|PMID:26963950|PMID:27157104|PMID:27390877|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29846619|PMID:29848507|PMID:30407919|PMID:30470382|PMID:30496603|PMID:30895164|PMID:31189130|PMID:31672324|PMID:31883284|PMID:32347971|PMID:32386559|PMID:33112267|PMID:34008892|PMID:34913197|PMID:35300448|PMID:35818129|PMID:7054696|PMID:7726161|PMID:7791841|PMID:7874174|PMID:791660|PMID:7916660|PMID:8636323|PMID:8675635|PMID:8698326|PMID:8702647|PMID:8733126|PMID:8813042|PMID:8878438|PMID:9011580|PMID:9253358|PMID:9422777|PMID:9536098|PMID:9661634|PMID:9920108 8935194 Casr calcium sensing receptor gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:10291 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia PMID:11136551|PMID:11701698|PMID:12067826|PMID:12574188|PMID:12733714|PMID:14519094|PMID:17039419|PMID:19179454|PMID:20119591|PMID:20668040|PMID:21645025|PMID:22422767|PMID:22789683|PMID:24133354|PMID:24297799|PMID:24823460|PMID:24948345|PMID:25137426|PMID:25420019|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29846619|PMID:30470382|PMID:30496603|PMID:34913197 8935194 Casr calcium sensing receptor gene DOID:0110144 Bartter disease type 3 ISO RGD:10291 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Bartter disease type 3 PMID:28492532 8935194 Casr calcium sensing receptor gene DOID:0111322 idiopathic generalized epilepsy 8 ISO RGD:10291 D RGD:7240710 20240313 OMIM 8935194 Casr calcium sensing receptor gene DOID:0111322 idiopathic generalized epilepsy 8 ISO RGD:10291 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 8 PMID:10770217|PMID:11013439|PMID:11701698|PMID:11807402|PMID:11889203|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12890593|PMID:1302026|PMID:15292296|PMID:15572418|PMID:15591042|PMID:15699544|PMID:15751724|PMID:15879434|PMID:16598859|PMID:17284438|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18751724|PMID:18756473|PMID:19389809|PMID:19759318|PMID:19779033|PMID:20164288|PMID:20798521|PMID:21239511|PMID:21289269|PMID:21414629|PMID:21521328|PMID:22192860|PMID:22422767|PMID:22798347|PMID:23077345|PMID:23372019|PMID:24133354|PMID:24203066|PMID:25091521|PMID:25506941|PMID:25701758|PMID:25741868|PMID:26161261|PMID:26467025|PMID:26963950|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29026550|PMID:29846619|PMID:29848507|PMID:30407919|PMID:31672324|PMID:32347971|PMID:32386559|PMID:35300448|PMID:7054696|PMID:7726161|PMID:7791841|PMID:791660|PMID:7916660|PMID:8636323|PMID:8675635|PMID:8702647|PMID:8878438|PMID:9011580 8935194 Casr calcium sensing receptor gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:10291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:10023897|PMID:10217111|PMID:10912749|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11733622|PMID:11807402|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12574201|PMID:14508624|PMID:14997007|PMID:15531522|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16497624|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:19694204|PMID:20164288|PMID:20602573|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:24033266|PMID:24133354|PMID:25292184|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26467025|PMID:26646938|PMID:27157104|PMID:27957351|PMID:28492532|PMID:29846619|PMID:30895164|PMID:8636323 8935194 Casr calcium sensing receptor gene DOID:10283 prostate cancer ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 8935194 Casr calcium sensing receptor gene DOID:1059 intellectual disability ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Hypocalciuric Hypercalcemia, Familial, Type 1; DNA:deletion:exon:c.1952_1966del (human) PMID:21667241|REF_RGD_ID:7205468 8935194 Casr calcium sensing receptor gene DOID:10609 rickets ISO RGD:1553551 D RGD:9068941 20200609 RGD PMID:12671052|REF_RGD_ID:734698 8935194 Casr calcium sensing receptor gene DOID:11199 hypoparathyroidism ISO RGD:10291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11701698 8935194 Casr calcium sensing receptor gene DOID:11202 primary hyperparathyroidism ISO RGD:10291 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia PMID:10023897|PMID:10217111|PMID:10770217|PMID:10912749|PMID:11013439|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11701698|PMID:11733622|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12239240|PMID:12574188|PMID:12574201|PMID:12890593|PMID:1302026|PMID:14508624|PMID:14519094|PMID:14985373|PMID:14997007|PMID:15292296|PMID:15531522|PMID:15572418|PMID:15591042|PMID:15598778|PMID:15699544|PMID:15751724|PMID:15864123|PMID:15879434|PMID:16497624|PMID:16649980|PMID:17018660|PMID:17039419|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18751724|PMID:18756473|PMID:19179454|PMID:19389809|PMID:19694204|PMID:19759318|PMID:19779033|PMID:20164288|PMID:20602573|PMID:21239511|PMID:21289269|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:22798347|PMID:23077345|PMID:23372019|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24823460|PMID:24854525|PMID:24948345|PMID:25091521|PMID:25292184|PMID:25506941|PMID:25701758|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26963950|PMID:27157104|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29846619|PMID:29848507|PMID:30407919|PMID:30470382|PMID:30496603|PMID:30895164|PMID:31189130|PMID:32347971|PMID:32386559|PMID:34913197|PMID:35300448|PMID:7054696|PMID:7726161|PMID:7791841|PMID:791660|PMID:7916660|PMID:8636323|PMID:8675635|PMID:8702647|PMID:8878438|PMID:9011580 8935194 Casr calcium sensing receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:10291 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15591042|PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:26963950|PMID:28492532|PMID:8675635|PMID:8878438 8935194 Casr calcium sensing receptor gene DOID:12466 secondary hyperparathyroidism ISO RGD:10291 D RGD:9068941 20200609 RGD protein:decreased expression:parathyroid gland (human) PMID:11044218|REF_RGD_ID:7205664 8935194 Casr calcium sensing receptor gene DOID:12466 secondary hyperparathyroidism severity ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;DNA:missense mutations:cds:p.R990G, p.Q1011E (human) PMID:19640368|REF_RGD_ID:7205505 8935194 Casr calcium sensing receptor gene DOID:12678 hypercalcemia ISO RGD:10291 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypercalcemia PMID:15591042|PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:26963950|PMID:28492532|PMID:31672324|PMID:8675635|PMID:8878438 8935194 Casr calcium sensing receptor gene DOID:13543 hyperparathyroidism ISO RGD:10291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11589681|PMID:9011580 8935194 Casr calcium sensing receptor gene DOID:13543 hyperparathyroidism ISO RGD:1553551 D RGD:9068941 20200609 RGD PMID:12671052|REF_RGD_ID:734698 8935194 Casr calcium sensing receptor gene DOID:13543 hyperparathyroidism ISO RGD:1553551 D RGD:9068941 20220825 MouseDO OMIM:145000 | OMIM:145001 | OMIM:610071 8935194 Casr calcium sensing receptor gene DOID:1612 breast cancer ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm PMID:10023897|PMID:10217111|PMID:10912749|PMID:11161843|PMID:11248745|PMID:11580999|PMID:11733622|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12574201|PMID:14508624|PMID:14997007|PMID:15531522|PMID:15864123|PMID:16497624|PMID:17018660|PMID:17117288|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17698911|PMID:18328986|PMID:18680227|PMID:19694204|PMID:20602573|PMID:22024717|PMID:24033266|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26467025|PMID:28492532|PMID:8636323 8935194 Casr calcium sensing receptor gene DOID:1827 idiopathic generalized epilepsy ISO RGD:10291 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:25741868|PMID:28492532 8935194 Casr calcium sensing receptor gene DOID:1936 atherosclerosis ISO RGD:10291 D RGD:9068941 20200609 RGD protein:decreased expression:tibial artery (human) PMID:18852253|REF_RGD_ID:7205454 8935194 Casr calcium sensing receptor gene DOID:1936 atherosclerosis ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:22527939|REF_RGD_ID:7205672 8935194 Casr calcium sensing receptor gene DOID:5844 myocardial infarction ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:22527939|REF_RGD_ID:7205672 8935194 Casr calcium sensing receptor gene DOID:585 nephrolithiasis ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:20067903|REF_RGD_ID:7205448 8935194 Casr calcium sensing receptor gene DOID:630 genetic disease ISO RGD:10291 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10023897|PMID:10217111|PMID:10468915|PMID:10912749|PMID:10971459|PMID:11089548|PMID:11161843|PMID:11231970|PMID:11248745|PMID:11580999|PMID:11668634|PMID:11733622|PMID:11763315|PMID:11807402|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12239240|PMID:12469911|PMID:12574201|PMID:12580936|PMID:14089114|PMID:14508624|PMID:14714270|PMID:14985373|PMID:14997007|PMID:15292296|PMID:15531522|PMID:15579740|PMID:15598778|PMID:15864123|PMID:15879434|PMID:16199547|PMID:16497624|PMID:16598859|PMID:16649980|PMID:16740594|PMID:16918956|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17121537|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17555508|PMID:17576681|PMID:17698911|PMID:18328986|PMID:18680227|PMID:18756473|PMID:18796518|PMID:18887540|PMID:18938753|PMID:19179454|PMID:19389809|PMID:19694204|PMID:19759318|PMID:19915295|PMID:20164288|PMID:20602573|PMID:20668040|PMID:20798521|PMID:20846291|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:22192860|PMID:22422767|PMID:22620673|PMID:23265383|PMID:23856262|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24394414|PMID:24517148|PMID:24735972|PMID:24823460|PMID:24854525|PMID:24947037|PMID:25039540|PMID:25104082|PMID:25292184|PMID:25705702|PMID:25741868|PMID:26107257|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26963950|PMID:27086061|PMID:27157104|PMID:27390877|PMID:27666534|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29026550|PMID:29636377|PMID:29846619|PMID:30376845|PMID:30407919|PMID:30895164|PMID:31189130|PMID:31433868|PMID:31672324|PMID:31883284|PMID:32347971|PMID:32386559|PMID:32430905|PMID:32638038|PMID:32871939|PMID:33094630|PMID:34024353|PMID:34088669|PMID:34160437|PMID:34659108|PMID:34714514|PMID:35733207|PMID:35818129|PMID:3966479|PMID:7673400|PMID:8636323|PMID:8675635|PMID:8733126|PMID:8813042|PMID:8878438|PMID:9395465|PMID:9536098 8935194 Casr calcium sensing receptor gene DOID:6432 pulmonary hypertension ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery (rat) PMID:22730443|REF_RGD_ID:7205669 8935194 Casr calcium sensing receptor gene DOID:7608 parathyroid adenoma ISO RGD:10291 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:15591042|PMID:17284438|PMID:19389809|PMID:19779033|PMID:22798347|PMID:23372019|PMID:25741868|PMID:26467025|PMID:26963950|PMID:28492532|PMID:8675635|PMID:8878438 8935194 Casr calcium sensing receptor gene DOID:783 end stage renal disease ISO RGD:10291 D RGD:9068941 20200609 RGD protein:decreased expression:epigastric artery (human) PMID:17537980|REF_RGD_ID:7205455 8935194 Casr calcium sensing receptor gene DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary ISO RGD:10291 D RGD:7240710 20240313 OMIM 8935194 Casr calcium sensing receptor gene DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary ISO RGD:10291 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism | ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism PMID:10023897|PMID:10217111|PMID:10770217|PMID:10885494|PMID:10912749|PMID:11013439|PMID:11161843|PMID:11231970|PMID:11248745|PMID:11580999|PMID:11701698|PMID:11733622|PMID:11763315|PMID:11807402|PMID:11889203|PMID:12018449|PMID:12040821|PMID:12052452|PMID:12095982|PMID:12107202|PMID:12114500|PMID:12191970|PMID:12239240|PMID:12469911|PMID:12574201|PMID:12890593|PMID:1302026|PMID:14508624|PMID:14997007|PMID:15292296|PMID:15531522|PMID:15572418|PMID:15591042|PMID:15598778|PMID:15699544|PMID:15751724|PMID:15864123|PMID:15879434|PMID:16199547|PMID:16497624|PMID:16642557|PMID:17018660|PMID:1706284|PMID:17117288|PMID:17284438|PMID:17309124|PMID:17320849|PMID:17332735|PMID:17473068|PMID:17478419|PMID:17555508|PMID:17698911|PMID:17803689|PMID:17974727|PMID:18219222|PMID:18328986|PMID:18680227|PMID:18751724|PMID:18756473|PMID:18796518|PMID:18830196|PMID:1889203|PMID:19102677|PMID:19179454|PMID:19389809|PMID:19423559|PMID:19694204|PMID:19759318|PMID:19779033|PMID:20164288|PMID:20290361|PMID:20602573|PMID:21239511|PMID:21289269|PMID:21414629|PMID:21521328|PMID:21645025|PMID:22024717|PMID:2211966|PMID:22142470|PMID:22192860|PMID:22331334|PMID:22422767|PMID:22798347|PMID:23077345|PMID:23372019|PMID:23764372|PMID:23966241|PMID:24033266|PMID:24133354|PMID:24203066|PMID:24854525|PMID:24947037|PMID:25091521|PMID:25292184|PMID:25506941|PMID:25701758|PMID:25705702|PMID:25741868|PMID:25792032|PMID:25828954|PMID:26107257|PMID:26161261|PMID:26166472|PMID:26467025|PMID:26646938|PMID:26855056|PMID:26963950|PMID:27157104|PMID:27434672|PMID:27666534|PMID:27739473|PMID:27957351|PMID:28176280|PMID:28492532|PMID:29846619|PMID:29848507|PMID:30895164|PMID:31189130|PMID:31433868|PMID:31672324|PMID:32347971|PMID:32386559|PMID:32761341|PMID:33258288|PMID:34088669|PMID:34906475|PMID:35300448|PMID:5013415|PMID:6543841|PMID:7054696|PMID:7717399|PMID:7726161|PMID:7791841|PMID:791660|PMID:7916660|PMID:8636323|PMID:8675635|PMID:8702647|PMID:8878438|PMID:9011580|PMID:9109436|PMID:9253359|PMID:9395465 8935194 Casr calcium sensing receptor gene DOID:9001542 Albuminuria ISO RGD:2277 D RGD:9068941 20200609 RGD associated with Uremia PMID:19188910|REF_RGD_ID:7205661 8935194 Casr calcium sensing receptor gene DOID:9001738 Hypercalciuria ISO RGD:10291 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.E1011Q (human) PMID:20602573|REF_RGD_ID:7205445 8935194 Casr calcium sensing receptor gene DOID:9001738 Hypercalciuria ISO RGD:2277 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:22137721|REF_RGD_ID:7205675 8935194 Casr calcium sensing receptor gene DOID:9001738 Hypercalciuria no_association ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human) PMID:19887834|REF_RGD_ID:7205502 8935194 Casr calcium sensing receptor gene DOID:9001738 Hypercalciuria susceptibility ISO RGD:10291 D RGD:9068941 20200609 RGD associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human) PMID:12239240|REF_RGD_ID:7205666 8935194 Casr calcium sensing receptor gene DOID:9002669 Hypoxia ISO RGD:2277 D RGD:9068941 20200609 RGD PMID:22098336|REF_RGD_ID:7205678 8935194 Casr calcium sensing receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8935194 Casr calcium sensing receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, liver, kidney (rat) PMID:22844268|REF_RGD_ID:7205442 8935194 Casr calcium sensing receptor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:2277 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium (rat) PMID:22137362|REF_RGD_ID:7205677 8935194 Casr calcium sensing receptor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:10291 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11807402|PMID:17698911|PMID:20164288|PMID:21521328|PMID:22192860|PMID:22422767|PMID:24133354|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29846619|PMID:30895164|PMID:33094630 8935194 Casr calcium sensing receptor gene DOID:9007257 Autosomal Dominant Hypocalcemia, with Bartter Syndrome ISO RGD:10291 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome PMID:11152759|PMID:11701698|PMID:12107202|PMID:12191970|PMID:12241879|PMID:15005845|PMID:17048213|PMID:25506941|PMID:25741868|PMID:28492532 8935194 Casr calcium sensing receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2277 D RGD:9068941 20200609 RGD protein:increased expression:ventricular myocardium (rat) PMID:21766206|REF_RGD_ID:7205698 8935194 Casr calcium sensing receptor gene DOID:9008086 Developmental Disabilities ISO RGD:10291 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8935194 Casr calcium sensing receptor gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8935194 Casr calcium sensing receptor gene DOID:9009050 Hypocalcemia ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypocalcemia PMID:25741868|PMID:28492532 8935194 Casr calcium sensing receptor gene DOID:9270 alkaptonuria ISO RGD:10291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8935206 Mmp16 matrix metallopeptidase 16 gene DOID:630 genetic disease ISO RGD:735917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935220 Sgsm3 small G protein signaling modulator 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1353613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8935220 Sgsm3 small G protein signaling modulator 3 gene DOID:630 genetic disease ISO RGD:1353613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935291 Ccdc24 coiled-coil domain containing 24 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:23252400|PMID:28492532 8935291 Ccdc24 coiled-coil domain containing 24 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8935291 Ccdc24 coiled-coil domain containing 24 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23252400|PMID:28492532 8935291 Ccdc24 coiled-coil domain containing 24 gene DOID:630 genetic disease ISO RGD:1603566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935304 Mln motilin gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8935304 Mln motilin gene DOID:0060500 drug allergy ISO RGD:1347043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16538176 8935304 Mln motilin gene DOID:630 genetic disease ISO RGD:1347043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935316 Fastkd2 FAST kinase domains 2 gene DOID:0070424 combined oxidative phosphorylation deficiency 44 ISO RGD:1317335 D RGD:7240710 20200520 OMIM 8935316 Fastkd2 FAST kinase domains 2 gene DOID:0070424 combined oxidative phosphorylation deficiency 44 ISO RGD:1317335 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 44 | ClinVar Annotator: match by term: FASTKD2-related condition PMID:18771761|PMID:25741868|PMID:28492532|PMID:28499982|PMID:31944455 8935316 Fastkd2 FAST kinase domains 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8935316 Fastkd2 FAST kinase domains 2 gene DOID:3652 Leigh disease ISO RGD:1317335 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:31944455 8935316 Fastkd2 FAST kinase domains 2 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:18771761|PMID:25326635|PMID:25497598|PMID:25741868|PMID:25842391|PMID:28492532 8935316 Fastkd2 FAST kinase domains 2 gene DOID:630 genetic disease ISO RGD:1317335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8935316 Fastkd2 FAST kinase domains 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8935334 Oaz2 ornithine decarboxylase antizyme 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1344023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8935334 Oaz2 ornithine decarboxylase antizyme 2 gene DOID:2717 Bloom syndrome ISO RGD:1344023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8935334 Oaz2 ornithine decarboxylase antizyme 2 gene DOID:9256 colorectal cancer ISO RGD:1344023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8935343 Nutm1 NUT midline carcinoma family member 1 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1605553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 8935343 Nutm1 NUT midline carcinoma family member 1 gene DOID:2717 Bloom syndrome ISO RGD:1605553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8935343 Nutm1 NUT midline carcinoma family member 1 gene DOID:630 genetic disease ISO RGD:1605553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935343 Nutm1 NUT midline carcinoma family member 1 gene DOID:9256 colorectal cancer ISO RGD:1605553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8935355 Spata18 spermatogenesis associated 18 gene DOID:10283 prostate cancer ISO RGD:1606969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8935355 Spata18 spermatogenesis associated 18 gene DOID:630 genetic disease ISO RGD:1606969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935355 Spata18 spermatogenesis associated 18 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8935355 Spata18 spermatogenesis associated 18 gene DOID:9008939 Breast Neoplasms ISO RGD:1606969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8935375 Rnf167 ring finger protein 167 gene DOID:0050941 spastic ataxia 2 ISO RGD:1348849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 8935375 Rnf167 ring finger protein 167 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1348849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 8935375 Rnf167 ring finger protein 167 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1348849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect 8935375 Rnf167 ring finger protein 167 gene DOID:630 genetic disease ISO RGD:1348849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935413 Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1343021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:18179882|PMID:25741868|PMID:28492532 8935413 Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1343021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 8935413 Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0112077 nuclear type mitochondrial complex I deficiency 15 ISO RGD:1343021 D RGD:7240710 20190315 OMIM 8935413 Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:0112077 nuclear type mitochondrial complex I deficiency 15 ISO RGD:1343021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 PMID:25741868|PMID:28492532|PMID:28853723 8935413 Ndufaf4 NADH:ubiquinone oxidoreductase complex assembly factor 4 gene DOID:630 genetic disease ISO RGD:1343021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8935425 Trib3 tribbles pseudokinase 3 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1345491 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 8935425 Trib3 tribbles pseudokinase 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1345491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 8935425 Trib3 tribbles pseudokinase 3 gene DOID:630 genetic disease ISO RGD:1345491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935425 Trib3 tribbles pseudokinase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8935425 Trib3 tribbles pseudokinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8935425 Trib3 tribbles pseudokinase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:1345491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497449 8935425 Trib3 tribbles pseudokinase 3 gene DOID:9007692 Insulin Resistance ISO RGD:1345491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20461355 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0050427 xeroderma pigmentosum ISO RGD:1313986 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10766188|PMID:11511294|PMID:15654957|PMID:16081512|PMID:16199547|PMID:16550608|PMID:17079196|PMID:17084680|PMID:18414213|PMID:18809580|PMID:18955168|PMID:19609301|PMID:20054342|PMID:21273643|PMID:21482201|PMID:23173980|PMID:23278166|PMID:23400628|PMID:24218596|PMID:24728327|PMID:25256075|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26884178|PMID:27153395|PMID:27387384|PMID:27607234|PMID:28492532|PMID:28615033|PMID:29178624|PMID:29330851|PMID:29569758|PMID:29684080|PMID:29973595|PMID:30101995|PMID:30256826|PMID:30306255|PMID:30516811|PMID:30675318|PMID:31017654|PMID:31970404|PMID:32239545|PMID:33821390|PMID:35111200|PMID:8298653|PMID:9804340 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1313986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0060417 3p deletion syndrome ISO RGD:1313986 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0110843 xeroderma pigmentosum group A ISO RGD:1313986 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group A PMID:12177305|PMID:17119055|PMID:18414213|PMID:23400628|PMID:24728327|PMID:25566891|PMID:25741868|PMID:26227012|PMID:28492532 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0110844 xeroderma pigmentosum group C ISO RGD:1313986 D RGD:7240710 20180130 OMIM 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:0110844 xeroderma pigmentosum group C ISO RGD:1313986 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:10766188|PMID:11511294|PMID:12177305|PMID:12509233|PMID:14662655|PMID:16081512|PMID:16199547|PMID:16550608|PMID:17079196|PMID:17084680|PMID:17119055|PMID:17576681|PMID:18414213|PMID:18478970|PMID:18809580|PMID:18955168|PMID:19609301|PMID:19953607|PMID:20054342|PMID:21273643|PMID:21482201|PMID:23173980|PMID:23278166|PMID:23400628|PMID:23984341|PMID:24218596|PMID:24728327|PMID:25256075|PMID:25326635|PMID:25525159|PMID:25566891|PMID:25741868|PMID:26278556|PMID:26884178|PMID:27153395|PMID:27387384|PMID:27607234|PMID:28492532|PMID:28669926|PMID:29178624|PMID:29330851|PMID:29569758|PMID:29684080|PMID:29973595|PMID:30101995|PMID:30256826|PMID:30306255|PMID:30516811|PMID:30675318|PMID:31017654|PMID:31319225|PMID:31970404|PMID:32239545|PMID:33672602|PMID:33821390|PMID:35111200|PMID:8298653|PMID:9536098|PMID:9804340 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:12849 autistic disorder ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9804340 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:1324 lung cancer ISO RGD:1313987 D RGD:9068941 20220825 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:1749 squamous cell carcinoma ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:1793 pancreatic cancer ISO RGD:1313986 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:AF076952 (human) PMID:18559563|REF_RGD_ID:2317130 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:2394 ovarian cancer ISO RGD:1313986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:3114 serous cystadenocarcinoma disease_progression ISO RGD:1313986 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1124303, rs3731108 (human) PMID:21751198|REF_RGD_ID:10401086 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:3910 lung adenocarcinoma ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327329|PMID:27777383 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:630 genetic disease ISO RGD:1313986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9000918 Disease Progression ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27777383 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9004814 Chromosome Aberrations ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20106949 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9005172 Lung Neoplasms ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17325666|PMID:24084170 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216194 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313986 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary cancer PMID:25741868 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9007188 Liver Neoplasms ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24084170 8935443 Xpc XPC complex subunit, DNA damage recognition and repair factor gene DOID:9252 amino acid metabolic disorder ISO RGD:1313986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9804340 8935459 Hrc histidine rich calcium binding protein gene DOID:0050451 Brugada syndrome ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 8935459 Hrc histidine rich calcium binding protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1343095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8935459 Hrc histidine rich calcium binding protein gene DOID:0111073 progressive familial heart block ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 8935459 Hrc histidine rich calcium binding protein gene DOID:0111074 progressive familial heart block type IA ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 8935459 Hrc histidine rich calcium binding protein gene DOID:0111076 progressive familial heart block type IB ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 8935459 Hrc histidine rich calcium binding protein gene DOID:630 genetic disease ISO RGD:1343095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8935459 Hrc histidine rich calcium binding protein gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 8935459 Hrc histidine rich calcium binding protein gene DOID:9003139 Cardiac Fibrosis severity ISO RGD:1550883 D RGD:9068941 20200609 RGD associated with Heart Failure PMID:22952658|REF_RGD_ID:9685495 8935459 Hrc histidine rich calcium binding protein gene DOID:9003936 Cardiomegaly ISO RGD:1343095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17030629 8935459 Hrc histidine rich calcium binding protein gene DOID:9007633 Body Weight ISO RGD:1343095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17030629 8935459 Hrc histidine rich calcium binding protein gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:1343095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 8935477 Ppa1 inorganic pyrophosphatase 1 gene DOID:630 genetic disease ISO RGD:1352864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:0050700 cardiomyopathy ISO RGD:1352615 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33171190 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625222 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:0060041 autism spectrum disorder ISO RGD:1352615 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:12236 primary biliary cholangitis ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542527 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:631345 D RGD:9068941 20200609 RGD PMID:27988213|REF_RGD_ID:13450940 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:13189 gout ISO RGD:1352615 D RGD:7240710 20181003 OMIM 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:13189 gout ISO RGD:1352615 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1 PMID:16702730|PMID:16784736|PMID:18834626|PMID:19474787|PMID:19506252|PMID:20130569|PMID:20207952|PMID:20368174|PMID:20679960|PMID:22112610|PMID:22246505|PMID:22246507|PMID:22992668|PMID:23876492|PMID:23930675|PMID:25630984|PMID:25741868|PMID:28322941|PMID:29751792|PMID:29950617|PMID:31857620|PMID:32361904 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:13189 gout susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2231142(human) PMID:19506252|REF_RGD_ID:13439747 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:13250 diarrhea ISO RGD:1352615 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32387182 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:13270 erythropoietic protoporphyria ISO RGD:1551496 D RGD:9068941 20220825 MouseDO OMIM:177000 | OMIM:300752 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:1824 status epilepticus ISO RGD:631345 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:16190927|REF_RGD_ID:2315587 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:1920 hyperuricemia ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21821808 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:1920 hyperuricemia ISO RGD:1551496 D RGD:9068941 20220825 MouseDO 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:3459 breast carcinoma ISO RGD:1352615 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:11948115|REF_RGD_ID:2315568 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :421C>A(human) PMID:17938643|REF_RGD_ID:11081146 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q141K (human) PMID:15906349|REF_RGD_ID:2315569 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20019844 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:6000 congestive heart failure ISO RGD:1352615 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:630 genetic disease ISO RGD:1352615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:657 adenoma ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21544799 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:707 B-cell lymphoma susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNP: :rs6857600(human) PMID:21918980|REF_RGD_ID:11080977 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:7148 rheumatoid arthritis ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :C>A421(human) PMID:26250462|REF_RGD_ID:11081180 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNP: :421C>A(human) PMID:24581936|REF_RGD_ID:11081178 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human) PMID:24123600|REF_RGD_ID:11081181 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:863 nervous system disease ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:21640380|REF_RGD_ID:11081147 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia susceptibility ISO RGD:1352615 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs1481012,rs2231142(human) PMID:21918980|REF_RGD_ID:11080977 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9002457 Experimental Arthritis ISO RGD:631345 D RGD:9068941 20200609 RGD mRNA:decreased expression:small intestine PMID:19152228|REF_RGD_ID:2315573 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:16702730|PMID:16784736|PMID:18834626|PMID:19474787|PMID:19506252|PMID:20130569|PMID:20207952|PMID:20368174|PMID:20679960|PMID:22112610|PMID:22992668|PMID:23876492|PMID:23930675|PMID:25630984|PMID:28322941|PMID:29751792|PMID:29950617|PMID:31857620|PMID:32361904 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9004009 Reperfusion Injury ISO RGD:631345 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered localization:small intestine PMID:18451542|REF_RGD_ID:2315580 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22767648 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:631345 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:17915193|REF_RGD_ID:2315584 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352615 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:21064136|PMID:32387182 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21544799|PMID:22294766 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9008691 Liver Injury ISO RGD:631345 D RGD:9068941 20200609 RGD PMID:12819005|REF_RGD_ID:1304394 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9008939 Breast Neoplasms ISO RGD:1352615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930538 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:26512967|REF_RGD_ID:11081145 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:12145683|REF_RGD_ID:11099971 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9351 diabetes mellitus ISO RGD:631345 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:28679589|REF_RGD_ID:13439745 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9352 type 2 diabetes mellitus ISO RGD:631345 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:25152023|REF_RGD_ID:14700811 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9538 multiple myeloma treatment ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:16917002|PMID:26314844|REF_RGD_ID:11081075|REF_RGD_ID:11081144 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1352615 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:12100141|REF_RGD_ID:11081143 8935489 Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1352615 D RGD:9068941 20200609 RGD PMID:15521915|REF_RGD_ID:11081076 8935538 Rgs9bp regulator of G protein signaling 9 binding protein gene DOID:0050335 bradyopsia ISO RGD:1601793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bradyopsia PMID:14702087|PMID:25741868|PMID:28492532 8935538 Rgs9bp regulator of G protein signaling 9 binding protein gene DOID:0070364 bradyopsia 2 ISO RGD:1601793 D RGD:7240710 20230505 OMIM 8935538 Rgs9bp regulator of G protein signaling 9 binding protein gene DOID:0070364 bradyopsia 2 ISO RGD:1601793 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Prolonged electroretinal response suppression 2 PMID:17698770|PMID:19818506|PMID:28492532|PMID:31144483 8935538 Rgs9bp regulator of G protein signaling 9 binding protein gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1601793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8935538 Rgs9bp regulator of G protein signaling 9 binding protein gene DOID:630 genetic disease ISO RGD:1601793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8935586 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1602304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8935586 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1602304 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8935586 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:14780 KBG syndrome ISO RGD:1602304 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8935586 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:630 genetic disease ISO RGD:1602304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935586 Zc3h18 zinc finger CCCH-type containing 18 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1602304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8935628 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8935628 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8935628 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:1826 epilepsy ISO RGD:1604545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8935628 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8935628 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8935628 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:630 genetic disease ISO RGD:1604545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935628 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:9007661 Dwarfism ISO RGD:1604545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8935628 Anks3 ankyrin repeat and sterile alpha motif domain containing 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:1604545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 8935663 Eaf2 ELL associated factor 2 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:736664 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8935663 Eaf2 ELL associated factor 2 gene DOID:0080600 COVID-19 ISO RGD:736664 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8935663 Eaf2 ELL associated factor 2 gene DOID:10283 prostate cancer ISO RGD:736664 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:12907652|REF_RGD_ID:634486 8935663 Eaf2 ELL associated factor 2 gene DOID:630 genetic disease ISO RGD:736664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935663 Eaf2 ELL associated factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:736664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 8935663 Eaf2 ELL associated factor 2 gene DOID:707 B-cell lymphoma ISO RGD:736664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 8935663 Eaf2 ELL associated factor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 8935663 Eaf2 ELL associated factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20564326 8935663 Eaf2 ELL associated factor 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8935663 Eaf2 ELL associated factor 2 gene DOID:9270 alkaptonuria ISO RGD:736664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8935695 Gon4l gon-4 like gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8935695 Gon4l gon-4 like gene DOID:0060586 Noonan syndrome 8 ISO RGD:1606548 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532|PMID:30684668|PMID:31463572 8935695 Gon4l gon-4 like gene DOID:0111940 immunodeficiency 42 ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8935695 Gon4l gon-4 like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8935695 Gon4l gon-4 like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8935695 Gon4l gon-4 like gene DOID:1059 intellectual disability ISO RGD:1606548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8935695 Gon4l gon-4 like gene DOID:1540 parathyroid carcinoma ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8935695 Gon4l gon-4 like gene DOID:3070 high grade glioma ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8935695 Gon4l gon-4 like gene DOID:5812 MHC class II deficiency ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8935695 Gon4l gon-4 like gene DOID:8850 salivary gland cancer ISO RGD:2312710 D RGD:9068941 20220825 MouseDO 8935695 Gon4l gon-4 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:24033266|PMID:25058219|PMID:25741868 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0110935 nemaline myopathy 6 ISO RGD:1604246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055|PMID:28492532 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0111491 combined oxidative phosphorylation deficiency 15 ISO RGD:1604246 D RGD:7240710 20180130 OMIM 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0111491 combined oxidative phosphorylation deficiency 15 ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15 PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30911575|PMID:32577402 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0112090 nuclear type mitochondrial complex I deficiency 27 ISO RGD:1604246 D RGD:7240710 20190315 OMIM 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:0112090 nuclear type mitochondrial complex I deficiency 27 ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30911575|PMID:32577402 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:10907 microcephaly ISO RGD:1604246 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:2717 Bloom syndrome ISO RGD:1604246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:3652 Leigh disease ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30911575 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:630 genetic disease ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25044680|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30369941|PMID:30911575|PMID:32577402 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30911575 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:9007661 Dwarfism ISO RGD:1604246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short stature PMID:21907147|PMID:22499348|PMID:23499752|PMID:24088041|PMID:24123792|PMID:24461907|PMID:25058219|PMID:25288793|PMID:25741868|PMID:25911677|PMID:26060307|PMID:26633545|PMID:27290639|PMID:28058511|PMID:28492532|PMID:30087118|PMID:30911575 8935739 Mtfmt mitochondrial methionyl-tRNA formyltransferase gene DOID:9256 colorectal cancer ISO RGD:1604246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:0080773 delta beta-thalassemia ISO RGD:1350768 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:1324 lung cancer ISO RGD:1350768 D RGD:7240710 20240124 OMIM 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:1612 breast cancer ISO RGD:1350768 D RGD:7240710 20190315 OMIM 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:234 colon adenocarcinoma ameliorates ISO RGD:1350768 D RGD:9068941 20220107 RGD mRNA:decreased expression:colorectum (human) PMID:26196590|REF_RGD_ID:11522474 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:3247 rhabdomyosarcoma ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic PMID:9520460 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:3458 breast adenocarcinoma ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma PMID:9520460 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:3905 lung carcinoma ISO RGD:1350768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:9751628 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350768 D RGD:9068941 20220107 RGD mRNA:increased expression:lung (human) PMID:25498886|REF_RGD_ID:150557424 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1350768 D RGD:9068941 20220107 RGD protein:increased expression:lung (human) PMID:22237119|REF_RGD_ID:150557425 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:3910 lung adenocarcinoma ISO RGD:1350768 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1350768 D RGD:9068941 20220107 RGD mRNA:increased expression:lung (human) PMID:32726996|REF_RGD_ID:150557423 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:1350768 D RGD:9068941 20220107 RGD DNA:hypermethylation: (human) PMID:23243219|REF_RGD_ID:150557426 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:630 genetic disease ISO RGD:1350768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:9005172 Lung Neoplasms ISO RGD:1350768 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:9007643 Embryonal Rhabdomyosarcoma 1 ISO RGD:1350768 D RGD:7240710 20190315 OMIM 8935752 Slc22a18 solute carrier family 22 member 18 gene DOID:9008939 Breast Neoplasms ISO RGD:1350768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8935783 Cd177 CD177 molecule gene DOID:5419 schizophrenia ISO RGD:1603627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8935783 Cd177 CD177 molecule gene DOID:630 genetic disease ISO RGD:1603627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935810 Lrrc71 leucine rich repeat containing 71 gene DOID:1540 parathyroid carcinoma ISO RGD:1601719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8935810 Lrrc71 leucine rich repeat containing 71 gene DOID:630 genetic disease ISO RGD:1601719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935810 Lrrc71 leucine rich repeat containing 71 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8935851 Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1351234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:29581481|PMID:35172124 8935851 Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:14227 azoospermia ISO RGD:1351234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Azoospermia PMID:29581481|PMID:35172124 8935851 Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1351234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935851 Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:9001327 Spermatogenic Failure 70 ISO RGD:1351234 D RGD:7240710 20220427 OMIM 8935851 Pdha2 pyruvate dehydrogenase E1 subunit alpha 2 gene DOID:9001327 Spermatogenic Failure 70 ISO RGD:1351234 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 70 PMID:29581481|PMID:35172124 8935855 Tns1 tensin 1 gene DOID:630 genetic disease ISO RGD:68636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935855 Tns1 tensin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8935912 Tmem40 transmembrane protein 40 gene DOID:0080549 Noonan syndrome with multiple lentigines 2 ISO RGD:1343546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 8935912 Tmem40 transmembrane protein 40 gene DOID:0080690 RASopathy ISO RGD:1343546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8935912 Tmem40 transmembrane protein 40 gene DOID:630 genetic disease ISO RGD:1343546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935934 Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:1596 depressive disorder susceptibility ISO RGD:1308550 D RGD:9068941 20200609 RGD PMID:22311638|REF_RGD_ID:13801196 8935934 Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:630 genetic disease ISO RGD:1318388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935934 Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:700 mitochondrial metabolism disease ISO RGD:1318388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes PMID:25741868|PMID:33502047 8935934 Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:893 Wilson disease ISO RGD:1318388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8935934 Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:9007680 Nuclear Type Mitochondrial Complex I Deficiency 39 ISO RGD:1318388 D RGD:7240710 20221214 OMIM 8935934 Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 gene DOID:9007680 Nuclear Type Mitochondrial Complex I Deficiency 39 ISO RGD:1318388 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 39 PMID:25741868|PMID:33502047 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:0050902 medulloblastoma ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:26619011 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:26619011 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:26619011 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:1059 intellectual disability ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:2746 glycogen storage disease V ISO RGD:1316185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:2907 Goldenhar syndrome ISO RGD:1316185 D RGD:7240710 20220316 OMIM 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:2907 Goldenhar syndrome ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Goldenhar syndrome PMID:34344887|PMID:7811205 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:4450 renal cell carcinoma ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:630 genetic disease ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:26619011 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:8923 skin melanoma ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:26619011 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:26619011 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1316185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26619011 8935942 Sf3b2 splicing factor 3b subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1316185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:26619011 8935988 Khdrbs3 KH RNA binding domain containing, signal transduction associated 3 gene DOID:630 genetic disease ISO RGD:1354239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936003 Ino80b INO80 complex subunit B gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1347975 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8936003 Ino80b INO80 complex subunit B gene DOID:543 dystonia ISO RGD:1347975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8936003 Ino80b INO80 complex subunit B gene DOID:630 genetic disease ISO RGD:1347975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936003 Ino80b INO80 complex subunit B gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8936013 Sh2d5 SH2 domain containing 5 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1602949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8936013 Sh2d5 SH2 domain containing 5 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1602949 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8936013 Sh2d5 SH2 domain containing 5 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1602949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8936013 Sh2d5 SH2 domain containing 5 gene DOID:630 genetic disease ISO RGD:1602949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936013 Sh2d5 SH2 domain containing 5 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1602949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8936027 Lrrtm2 leucine rich repeat transmembrane neuronal 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1345909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8936027 Lrrtm2 leucine rich repeat transmembrane neuronal 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1345909 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8936027 Lrrtm2 leucine rich repeat transmembrane neuronal 2 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1345909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8936027 Lrrtm2 leucine rich repeat transmembrane neuronal 2 gene DOID:630 genetic disease ISO RGD:1345909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936027 Lrrtm2 leucine rich repeat transmembrane neuronal 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8936027 Lrrtm2 leucine rich repeat transmembrane neuronal 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1345909 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8936036 Ak7 adenylate kinase 7 gene DOID:0111928 spermatogenic failure 27 ISO RGD:1320025 D RGD:7240710 20190315 OMIM 8936036 Ak7 adenylate kinase 7 gene DOID:0111928 spermatogenic failure 27 ISO RGD:1320025 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 27 PMID:25741868|PMID:28492532|PMID:29365104 8936036 Ak7 adenylate kinase 7 gene DOID:10908 hydrocephalus ISO RGD:1617449 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8936036 Ak7 adenylate kinase 7 gene DOID:630 genetic disease ISO RGD:1320025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8936036 Ak7 adenylate kinase 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320025 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18776131|PMID:20537283|PMID:22801010 8936061 Spcs1 signal peptidase complex subunit 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1346470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8936061 Spcs1 signal peptidase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1346470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0111940 immunodeficiency 42 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1349412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 ISO RGD:1349412 D RGD:7240710 20200902 OMIM 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 PMID:31469168 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:1540 parathyroid carcinoma ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:423 myopathy ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:5812 MHC class II deficiency ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:630 genetic disease ISO RGD:1349412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:9006227 Congenital Disorder of Glycosylation Type 1O ISO RGD:1349412 D RGD:7240710 20180130 OMIM 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:9006227 Congenital Disorder of Glycosylation Type 1O ISO RGD:1349412 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1O | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 PMID:19576565|PMID:25741868|PMID:28492532|PMID:28803818|PMID:29246662|PMID:30931530|PMID:31266720|PMID:31469168 8936086 Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8936092 Myl1 myosin light chain 1 gene DOID:0081346 congenital myopathy 14 ISO RGD:733783 D RGD:7240710 20190529 OMIM 8936092 Myl1 myosin light chain 1 gene DOID:0081346 congenital myopathy 14 ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 14 | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY PMID:25741868|PMID:30215711 8936092 Myl1 myosin light chain 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8936092 Myl1 myosin light chain 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8936092 Myl1 myosin light chain 1 gene DOID:630 genetic disease ISO RGD:733783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936092 Myl1 myosin light chain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8936092 Myl1 myosin light chain 1 gene DOID:9007588 Heart Injuries ISO RGD:733783 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19854236 8936107 Timm29 translocase of inner mitochondrial membrane 29 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1602195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 8936107 Timm29 translocase of inner mitochondrial membrane 29 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1602195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8936107 Timm29 translocase of inner mitochondrial membrane 29 gene DOID:0111254 glutaric acidemia I ISO RGD:1602195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 8936107 Timm29 translocase of inner mitochondrial membrane 29 gene DOID:13810 familial hypercholesterolemia ISO RGD:1602195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 8936107 Timm29 translocase of inner mitochondrial membrane 29 gene DOID:3413 alpha-mannosidosis ISO RGD:1602195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8936114 Hoxc9 homeobox C9 gene DOID:630 genetic disease ISO RGD:1314056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936114 Hoxc9 homeobox C9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8936139 Wdfy4 WDFY family member 4 gene DOID:11372 megacolon ISO RGD:1350991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8936139 Wdfy4 WDFY family member 4 gene DOID:12849 autistic disorder ISO RGD:1350991 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 8936139 Wdfy4 WDFY family member 4 gene DOID:5419 schizophrenia ISO RGD:1350991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8936139 Wdfy4 WDFY family member 4 gene DOID:630 genetic disease ISO RGD:1350991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936139 Wdfy4 WDFY family member 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1350991 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 8936228 Mbl2 mannose binding lectin 2 gene DOID:0050073 invasive aspergillosis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs5030737(human) PMID:17311505|REF_RGD_ID:8693758 8936228 Mbl2 mannose binding lectin 2 gene DOID:0050117 disease by infectious agent ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7707811 8936228 Mbl2 mannose binding lectin 2 gene DOID:0050117 disease by infectious agent ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype,SNP:promoter: PMID:22444663|REF_RGD_ID:8693694 8936228 Mbl2 mannose binding lectin 2 gene DOID:0050117 disease by infectious agent no_association ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Precursor T-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:promoter,exon: PMID:16494622|REF_RGD_ID:11530059 8936228 Mbl2 mannose binding lectin 2 gene DOID:0050144 Kartagener syndrome severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:promoter: PMID:24753481|REF_RGD_ID:11250592 8936228 Mbl2 mannose binding lectin 2 gene DOID:0050697 chorioamnionitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.G54D(human) PMID:15723707|REF_RGD_ID:12910932 8936228 Mbl2 mannose binding lectin 2 gene DOID:0060496 respiratory allergy susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:intron:1011G>A(human) PMID:16487239|REF_RGD_ID:8693711 8936228 Mbl2 mannose binding lectin 2 gene DOID:0080159 cryptococcal meningitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with HIV Infections;DNA:polymorphism:cds: PMID:21592999|REF_RGD_ID:12910861 8936228 Mbl2 mannose binding lectin 2 gene DOID:0080162 lupus nephritis disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:24850777|REF_RGD_ID:12910847 8936228 Mbl2 mannose binding lectin 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:735547 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human) PMID:15838797|REF_RGD_ID:4889467 8936228 Mbl2 mannose binding lectin 2 gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds: PMID:23246423|REF_RGD_ID:8693695 8936228 Mbl2 mannose binding lectin 2 gene DOID:10223 dermatomyositis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.G54D,G57E(human) PMID:12485445|REF_RGD_ID:8693750 8936228 Mbl2 mannose binding lectin 2 gene DOID:104 bacterial infectious disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:exon: PMID:24453114|REF_RGD_ID:11530056 8936228 Mbl2 mannose binding lectin 2 gene DOID:10457 Legionnaires' disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:19073229|REF_RGD_ID:12910934 8936228 Mbl2 mannose binding lectin 2 gene DOID:10652 Alzheimer's disease ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid (human) PMID:9631454|REF_RGD_ID:4889155 8936228 Mbl2 mannose binding lectin 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:promoter: PMID:23348713|REF_RGD_ID:12910848 8936228 Mbl2 mannose binding lectin 2 gene DOID:1070 primary open angle glaucoma ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22335808|REF_RGD_ID:8693705 8936228 Mbl2 mannose binding lectin 2 gene DOID:10754 otitis media ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype,SNP:promoter,exons: PMID:16750996|REF_RGD_ID:8693692 8936228 Mbl2 mannose binding lectin 2 gene DOID:10887 lepromatous leprosy susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds:161G>A (human) PMID:20650301|REF_RGD_ID:8694069 8936228 Mbl2 mannose binding lectin 2 gene DOID:11162 respiratory failure ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:mutations:5' utr, exon:multiple (human) PMID:18582923|REF_RGD_ID:4889496 8936228 Mbl2 mannose binding lectin 2 gene DOID:11394 adult respiratory distress syndrome susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.G54N (human) PMID:17133182|REF_RGD_ID:4889476 8936228 Mbl2 mannose binding lectin 2 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:exon: PMID:22882323|REF_RGD_ID:12910846 8936228 Mbl2 mannose binding lectin 2 gene DOID:11714 gestational diabetes ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15472209 8936228 Mbl2 mannose binding lectin 2 gene DOID:12177 common variable immunodeficiency ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) PMID:10652157|REF_RGD_ID:4889436 8936228 Mbl2 mannose binding lectin 2 gene DOID:12306 vitiligo no_association ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon: PMID:19416237|REF_RGD_ID:8693724 8936228 Mbl2 mannose binding lectin 2 gene DOID:12306 vitiligo susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17337399|REF_RGD_ID:8693723 8936228 Mbl2 mannose binding lectin 2 gene DOID:12375 bronchopneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Down Syndrome; protein:decreased secretion:serum (human) PMID:19804807|REF_RGD_ID:4889483 8936228 Mbl2 mannose binding lectin 2 gene DOID:12554 hemolytic-uremic syndrome treatment ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:27378476|REF_RGD_ID:11530050 8936228 Mbl2 mannose binding lectin 2 gene DOID:12716 newborn respiratory distress syndrome disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:25879044|REF_RGD_ID:12910849 8936228 Mbl2 mannose binding lectin 2 gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:735547 D RGD:9068941 20200609 RGD Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) PMID:11474427|REF_RGD_ID:4889577 8936228 Mbl2 mannose binding lectin 2 gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:intron:1011G>A(human) PMID:16487239|REF_RGD_ID:8693711 8936228 Mbl2 mannose binding lectin 2 gene DOID:1324 lung cancer susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple (human) PMID:19959685|REF_RGD_ID:4889433 8936228 Mbl2 mannose binding lectin 2 gene DOID:13241 Behcet's disease severity ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:serum (human) PMID:15693089|REF_RGD_ID:1582155 8936228 Mbl2 mannose binding lectin 2 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:15730518|REF_RGD_ID:1582154 8936228 Mbl2 mannose binding lectin 2 gene DOID:13375 temporal arteritis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:12375325|REF_RGD_ID:8693752 8936228 Mbl2 mannose binding lectin 2 gene DOID:13378 Kawasaki disease ISO RGD:731472 D RGD:9068941 20200609 RGD PMID:24721319|REF_RGD_ID:8693744 8936228 Mbl2 mannose binding lectin 2 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:15144709|REF_RGD_ID:8693748 8936228 Mbl2 mannose binding lectin 2 gene DOID:13450 coccidioidomycosis ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:serum (human) PMID:19083122|REF_RGD_ID:4889458 8936228 Mbl2 mannose binding lectin 2 gene DOID:13564 aspergillosis susceptibility ISO RGD:731472 D RGD:9068941 20200609 RGD PMID:20064561|REF_RGD_ID:8694071 8936228 Mbl2 mannose binding lectin 2 gene DOID:14067 Plasmodium falciparum malaria susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:exon: PMID:18396436|REF_RGD_ID:11530064 8936228 Mbl2 mannose binding lectin 2 gene DOID:14115 toxic shock syndrome susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with acute pyelonephritis;DNA:SNPs, missense mutations, haplotypes:promoter, cds:multiple PMID:17202308|REF_RGD_ID:6903268 8936228 Mbl2 mannose binding lectin 2 gene DOID:1485 cystic fibrosis ISO RGD:735547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:10071515|PMID:10449435|PMID:15674393|PMID:16912583|PMID:18292811|PMID:20068595|PMID:22323042|PMID:22377282|PMID:22940091|PMID:24753481|PMID:25178872|PMID:28492532|PMID:7707811|PMID:8206524 8936228 Mbl2 mannose binding lectin 2 gene DOID:1485 cystic fibrosis severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:10449435|REF_RGD_ID:4889447 8936228 Mbl2 mannose binding lectin 2 gene DOID:1485 cystic fibrosis severity ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:serum (human) PMID:16879250|REF_RGD_ID:4889443 8936228 Mbl2 mannose binding lectin 2 gene DOID:1564 fungal infectious disease treatment ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Hematologic Diseases;DNA:polymorphisms:promoter,exon: PMID:24886325|REF_RGD_ID:11530048 8936228 Mbl2 mannose binding lectin 2 gene DOID:1588 thrombocytopenia susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Dengue;DNA:SNP:exon: PMID:18361938|REF_RGD_ID:11530042 8936228 Mbl2 mannose binding lectin 2 gene DOID:1733 cryptosporidiosis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter,exon: PMID:19827946|REF_RGD_ID:12910843 8936228 Mbl2 mannose binding lectin 2 gene DOID:1883 hepatitis C susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon: PMID:19703233|REF_RGD_ID:14696815 8936228 Mbl2 mannose binding lectin 2 gene DOID:1883 hepatitis C susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter, exon: PMID:20570631|REF_RGD_ID:14696832 8936228 Mbl2 mannose binding lectin 2 gene DOID:2043 hepatitis B disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:promoter,exon: PMID:16231358|REF_RGD_ID:14696834 8936228 Mbl2 mannose binding lectin 2 gene DOID:2272 vulvovaginal candidiasis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds: PMID:17470593|REF_RGD_ID:8693700 8936228 Mbl2 mannose binding lectin 2 gene DOID:2297 leptospirosis severity ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19330263|REF_RGD_ID:6903260 8936228 Mbl2 mannose binding lectin 2 gene DOID:2394 ovarian cancer ISO RGD:735547 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary: PMID:25038892|REF_RGD_ID:12910855 8936228 Mbl2 mannose binding lectin 2 gene DOID:2394 ovarian cancer susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:exon,promoter: PMID:25038892|REF_RGD_ID:12910855 8936228 Mbl2 mannose binding lectin 2 gene DOID:2799 bronchiolitis obliterans resistance ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:transversion:5' utr:-290C>G rs7096206 (human) PMID:19104434|REF_RGD_ID:4889456 8936228 Mbl2 mannose binding lectin 2 gene DOID:2841 asthma ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Bronchiolitis;DNA:polymorphism:exon: PMID:22512728|REF_RGD_ID:8693709 8936228 Mbl2 mannose binding lectin 2 gene DOID:2841 asthma susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.G54D(human) PMID:22674410|REF_RGD_ID:12910828 8936228 Mbl2 mannose binding lectin 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:19199550|REF_RGD_ID:4889452 8936228 Mbl2 mannose binding lectin 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:20688922|REF_RGD_ID:4889421 8936228 Mbl2 mannose binding lectin 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:lung (human) PMID:19411612|REF_RGD_ID:4889448 8936228 Mbl2 mannose binding lectin 2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, exon: PMID:20642202|REF_RGD_ID:8693720 8936228 Mbl2 mannose binding lectin 2 gene DOID:3312 bipolar disorder susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:24856568|REF_RGD_ID:12910826 8936228 Mbl2 mannose binding lectin 2 gene DOID:3385 bacterial vaginosis ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:cds: PMID:17470593|REF_RGD_ID:8693700 8936228 Mbl2 mannose binding lectin 2 gene DOID:341 peripheral vascular disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human) PMID:15295097|REF_RGD_ID:1582151 8936228 Mbl2 mannose binding lectin 2 gene DOID:3770 pulmonary fibrosis ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency; DNA:polymorphisms:5' utr, exon:multiple (human) PMID:18637104|REF_RGD_ID:4889479 8936228 Mbl2 mannose binding lectin 2 gene DOID:409 liver disease ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; DNA:polymorphisms:5' utr, exon:multiple (human) PMID:19467940|REF_RGD_ID:4889446 8936228 Mbl2 mannose binding lectin 2 gene DOID:4247 coronary restenosis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:15790942|REF_RGD_ID:1582150 8936228 Mbl2 mannose binding lectin 2 gene DOID:4483 rhinitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:18831943|REF_RGD_ID:8693717 8936228 Mbl2 mannose binding lectin 2 gene DOID:5082 liver cirrhosis severity ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis C; DNA:haplotype:promoter, exon: PMID:20570631|REF_RGD_ID:14696832 8936228 Mbl2 mannose binding lectin 2 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:exon: PMID:26857650|REF_RGD_ID:14696836 8936228 Mbl2 mannose binding lectin 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16960176 8936228 Mbl2 mannose binding lectin 2 gene DOID:526 human immunodeficiency virus infectious disease no_association ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:26348711|REF_RGD_ID:12910931 8936228 Mbl2 mannose binding lectin 2 gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:19796822|REF_RGD_ID:12910857 8936228 Mbl2 mannose binding lectin 2 gene DOID:552 pneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:Bronchoalveolar lavage: PMID:15249448|REF_RGD_ID:8693755 8936228 Mbl2 mannose binding lectin 2 gene DOID:552 pneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased secretion:lung (human) PMID:18988662|REF_RGD_ID:4889459 8936228 Mbl2 mannose binding lectin 2 gene DOID:57 aortic valve insufficiency susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Rheumatic Fever;DNA:polymorphism:exon: PMID:18400978|REF_RGD_ID:12910860 8936228 Mbl2 mannose binding lectin 2 gene DOID:574 peripheral nervous system disease ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 8936228 Mbl2 mannose binding lectin 2 gene DOID:594 panic disorder susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:24856568|REF_RGD_ID:12910826 8936228 Mbl2 mannose binding lectin 2 gene DOID:630 genetic disease ISO RGD:735547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936228 Mbl2 mannose binding lectin 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:18334024|REF_RGD_ID:12910845 8936228 Mbl2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:27557564|REF_RGD_ID:14696835 8936228 Mbl2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma no_association ISO RGD:735547 D RGD:9068941 20200609 RGD associated with viral hepatitis;DNA:polymorphisms:exon: PMID:18221301|REF_RGD_ID:14696829 8936228 Mbl2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP: :221C>G(rs709620)(human) PMID:21733090|REF_RGD_ID:14696813 8936228 Mbl2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs7096206(human) PMID:25787238|REF_RGD_ID:14696833 8936228 Mbl2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis B-related cirrhosis;DNA:SNP: :rs11003123(G>A)(human) PMID:27298104|REF_RGD_ID:14696814 8936228 Mbl2 mannose binding lectin 2 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA:SNP:exon: PMID:26857650|REF_RGD_ID:14696836 8936228 Mbl2 mannose binding lectin 2 gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:22360648|REF_RGD_ID:8693703 8936228 Mbl2 mannose binding lectin 2 gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP:exon: PMID:19703233|REF_RGD_ID:14696815 8936228 Mbl2 mannose binding lectin 2 gene DOID:783 end stage renal disease ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:polymorphisms PMID:16801331|REF_RGD_ID:6903261 8936228 Mbl2 mannose binding lectin 2 gene DOID:853 polymyalgia rheumatica ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:12375325|REF_RGD_ID:8693752 8936228 Mbl2 mannose binding lectin 2 gene DOID:8566 herpes simplex ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:15498041|REF_RGD_ID:8693727 8936228 Mbl2 mannose binding lectin 2 gene DOID:8566 herpes simplex disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:15498041|REF_RGD_ID:8693727 8936228 Mbl2 mannose binding lectin 2 gene DOID:8566 herpes simplex susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:19480845|REF_RGD_ID:8693725 8936228 Mbl2 mannose binding lectin 2 gene DOID:874 bacterial pneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD Legionella Pneumonia; DNA:mutations:5' utr, exon:multiple (human) PMID:18641104|REF_RGD_ID:4889477 8936228 Mbl2 mannose binding lectin 2 gene DOID:8778 Crohn's disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds: PMID:21702710|REF_RGD_ID:12910842 8936228 Mbl2 mannose binding lectin 2 gene DOID:8893 psoriasis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:23113841|REF_RGD_ID:8693722 8936228 Mbl2 mannose binding lectin 2 gene DOID:9000431 Mannose-Binding Protein Deficiency ISO RGD:735547 D RGD:7240710 20180130 OMIM 8936228 Mbl2 mannose binding lectin 2 gene DOID:9000431 Mannose-Binding Protein Deficiency ISO RGD:735547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mannose-binding lectin deficiency PMID:10071515|PMID:10449435|PMID:10888598|PMID:1303250|PMID:1304173|PMID:14568388|PMID:1458688|PMID:15472209|PMID:15674393|PMID:15829288|PMID:16395391|PMID:1675710|PMID:16885193|PMID:16912583|PMID:18292811|PMID:20068595|PMID:22323042|PMID:22363494|PMID:22377282|PMID:22940091|PMID:24033266|PMID:24753481|PMID:25178872|PMID:25741868|PMID:28492532|PMID:29210071|PMID:33116287|PMID:7707811|PMID:8206524 8936228 Mbl2 mannose binding lectin 2 gene DOID:9000998 Brain Injuries disease_progression ISO RGD:731472 D RGD:9068941 20200609 RGD PMID:18183030|REF_RGD_ID:12910935 8936228 Mbl2 mannose binding lectin 2 gene DOID:9001472 Nasal Polyps ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Sinusitis; protein:increased secretion:serum (human) PMID:19593977|REF_RGD_ID:4889484 8936228 Mbl2 mannose binding lectin 2 gene DOID:9001665 Aneurysm ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome; DNA:polymorphisms:5' utr, exon:multiple (human) PMID:16385529|REF_RGD_ID:1582153 8936228 Mbl2 mannose binding lectin 2 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:12047967|REF_RGD_ID:4889478 8936228 Mbl2 mannose binding lectin 2 gene DOID:9002106 Pneumococcal Pneumonia no_association ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:mutations:5' utr, exon:multiple (human) PMID:18641104|REF_RGD_ID:4889477 8936228 Mbl2 mannose binding lectin 2 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia disease progression ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon: PMID:24453114|REF_RGD_ID:11530056 8936228 Mbl2 mannose binding lectin 2 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Neoplasms;DNA:SNP,haplotyep:promoter: PMID:20930093|REF_RGD_ID:11530043 8936228 Mbl2 mannose binding lectin 2 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with leukemia; PMID:24819208|REF_RGD_ID:11530041 8936228 Mbl2 mannose binding lectin 2 gene DOID:9003197 Vaso-occlusive Crisis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:promoter,exon: PMID:20172753|REF_RGD_ID:11530044 8936228 Mbl2 mannose binding lectin 2 gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:17335555|REF_RGD_ID:8693746 8936228 Mbl2 mannose binding lectin 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple: PMID:18927129|REF_RGD_ID:12910825 8936228 Mbl2 mannose binding lectin 2 gene DOID:9003507 Premature Birth ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16912583 8936228 Mbl2 mannose binding lectin 2 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:735547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:28492532 8936228 Mbl2 mannose binding lectin 2 gene DOID:9003646 Arterial Thrombosis treatment ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:25482922|REF_RGD_ID:11530049 8936228 Mbl2 mannose binding lectin 2 gene DOID:9003996 Birth Weight ISO RGD:735547 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20923744 8936228 Mbl2 mannose binding lectin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:731472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15509537|REF_RGD_ID:6903263 8936228 Mbl2 mannose binding lectin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:15882434|REF_RGD_ID:6903262 8936228 Mbl2 mannose binding lectin 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,exon: PMID:18336595|REF_RGD_ID:14696820 8936228 Mbl2 mannose binding lectin 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype:promoter, exon: PMID:25956563|REF_RGD_ID:11076743 8936228 Mbl2 mannose binding lectin 2 gene DOID:9004272 Varicose Ulcer ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:19997692|REF_RGD_ID:8694068 8936228 Mbl2 mannose binding lectin 2 gene DOID:9004422 Chagas Cardiomyopathy severity ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:26745156|REF_RGD_ID:11076757 8936228 Mbl2 mannose binding lectin 2 gene DOID:9004484 Sepsis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:polymorphism:exon: PMID:22882323|REF_RGD_ID:12910846 8936228 Mbl2 mannose binding lectin 2 gene DOID:9004562 Smoke Inhalation Injury ISO RGD:735547 D RGD:9068941 20200609 RGD mouse model PMID:19411612|REF_RGD_ID:4889448 8936228 Mbl2 mannose binding lectin 2 gene DOID:9004968 Yin Deficiency treatment ISO RGD:67380 D RGD:9068941 20220915 RGD PMID:29729385|REF_RGD_ID:153350148 8936228 Mbl2 mannose binding lectin 2 gene DOID:9005036 Bacteremia treatment ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Multiple Myeloma:DNA:polymorphism:exon: PMID:16953214|REF_RGD_ID:11530047 8936228 Mbl2 mannose binding lectin 2 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:20712489|REF_RGD_ID:4889482 8936228 Mbl2 mannose binding lectin 2 gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:19715891|REF_RGD_ID:6903267 8936228 Mbl2 mannose binding lectin 2 gene DOID:9006771 Chronic Rhinosinusitis ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased activity:serum: PMID:23144819|REF_RGD_ID:8693716 8936228 Mbl2 mannose binding lectin 2 gene DOID:9007355 Hashimoto Disease susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:22360648|REF_RGD_ID:8693703 8936228 Mbl2 mannose binding lectin 2 gene DOID:9007417 Pseudomonas Infections onset ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; DNA:polymorphisms:5' utr, exon:multiple (human) PMID:20068595|REF_RGD_ID:4889579 8936228 Mbl2 mannose binding lectin 2 gene DOID:9007425 Diffuse Panbronchiolitis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.G54D(rs1800450)(human) PMID:15249448|REF_RGD_ID:8693755 8936228 Mbl2 mannose binding lectin 2 gene DOID:9007755 Intestinal Reperfusion Injury severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon: PMID:19477015|REF_RGD_ID:12910933 8936228 Mbl2 mannose binding lectin 2 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:25482922|REF_RGD_ID:11530049 8936228 Mbl2 mannose binding lectin 2 gene DOID:9008163 Chronic Hepatitis B severity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:27824315|REF_RGD_ID:14696831 8936228 Mbl2 mannose binding lectin 2 gene DOID:9008212 Diabetic Foot ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19997692|REF_RGD_ID:8694068 8936228 Mbl2 mannose binding lectin 2 gene DOID:9008680 Respiratory Tract Infections ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:multiple (human) PMID:19767106|REF_RGD_ID:4889439 8936228 Mbl2 mannose binding lectin 2 gene DOID:9008680 Respiratory Tract Infections susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.G54D(rs1800450)(human) PMID:15249448|REF_RGD_ID:8693755 8936228 Mbl2 mannose binding lectin 2 gene DOID:9008680 Respiratory Tract Infections susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD protein:decreased secretion:serum (human) PMID:19169708|REF_RGD_ID:4889453 8936228 Mbl2 mannose binding lectin 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:21510992|REF_RGD_ID:6903266 8936228 Mbl2 mannose binding lectin 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:cds:p.G54D,G57E(human) PMID:11561111|REF_RGD_ID:5147979 8936228 Mbl2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:17357060|REF_RGD_ID:8693721 8936228 Mbl2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26297290|REF_RGD_ID:11522692 8936228 Mbl2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis disease_progression ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:17357060|REF_RGD_ID:8693721 8936228 Mbl2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:promoter,exon: PMID:26297290|REF_RGD_ID:11522692 8936228 Mbl2 mannose binding lectin 2 gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: PMID:22995279|REF_RGD_ID:8693726 8936228 Mbl2 mannose binding lectin 2 gene DOID:9182 pemphigus ISO RGD:735547 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:21327568|REF_RGD_ID:8693728 8936228 Mbl2 mannose binding lectin 2 gene DOID:9563 bronchiectasis ISO RGD:735547 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency; protein:decreased secretion:serum (human) PMID:20568383|REF_RGD_ID:4889425 8936228 Mbl2 mannose binding lectin 2 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:735547 D RGD:9068941 20200609 RGD PMID:18361935|REF_RGD_ID:12910829 8936228 Mbl2 mannose binding lectin 2 gene DOID:9970 obesity ISO RGD:735547 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.R52C, p.G57E (human) PMID:16955210|REF_RGD_ID:4889156 8936237 Tex36 testis expressed 36 gene DOID:630 genetic disease ISO RGD:1352588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936245 Map3k14 mitogen-activated protein kinase kinase kinase 14 gene DOID:12236 primary biliary cholangitis ISO RGD:1321417 D RGD:9068941 20220825 MouseDO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 8936245 Map3k14 mitogen-activated protein kinase kinase kinase 14 gene DOID:12894 Sjogren's syndrome ISO RGD:1321417 D RGD:9068941 20220825 MouseDO OMIM:270150 8936245 Map3k14 mitogen-activated protein kinase kinase kinase 14 gene DOID:630 genetic disease ISO RGD:1321416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8936245 Map3k14 mitogen-activated protein kinase kinase kinase 14 gene DOID:9001786 Immunodeficiency 112 ISO RGD:1321416 D RGD:7240710 20230802 OMIM 8936270 Tmem25 transmembrane protein 25 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8936270 Tmem25 transmembrane protein 25 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1350182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8936270 Tmem25 transmembrane protein 25 gene DOID:0080690 RASopathy ISO RGD:1350182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8936270 Tmem25 transmembrane protein 25 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1350182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8936270 Tmem25 transmembrane protein 25 gene DOID:0110651 long QT syndrome 10 ISO RGD:1350182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8936270 Tmem25 transmembrane protein 25 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8936270 Tmem25 transmembrane protein 25 gene DOID:0111971 immunodeficiency 18 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8936270 Tmem25 transmembrane protein 25 gene DOID:0111972 immunodeficiency 19 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8936270 Tmem25 transmembrane protein 25 gene DOID:0111973 immunodeficiency 17 ISO RGD:1350182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8936270 Tmem25 transmembrane protein 25 gene DOID:630 genetic disease ISO RGD:1350182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936270 Tmem25 transmembrane protein 25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8936270 Tmem25 transmembrane protein 25 gene DOID:9007661 Dwarfism ISO RGD:1350182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8936270 Tmem25 transmembrane protein 25 gene DOID:9008939 Breast Neoplasms ISO RGD:1350182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776672 8936293 Slfn14 schlafen family member 14 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:1602272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 8936293 Slfn14 schlafen family member 14 gene DOID:0111055 platelet-type bleeding disorder 20 ISO RGD:1602272 D RGD:7240710 20190315 OMIM 8936293 Slfn14 schlafen family member 14 gene DOID:0111055 platelet-type bleeding disorder 20 ISO RGD:1602272 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Platelet-type bleeding disorder 20 | ClinVar Annotator: match by term: SLFN14-related condition PMID:25741868|PMID:26280575|PMID:26769223|PMID:28492532|PMID:29678925|PMID:32581362|PMID:36790527 8936293 Slfn14 schlafen family member 14 gene DOID:2213 hemorrhagic disease ISO RGD:1602272 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:26280575|PMID:32581362|PMID:36790527 8936293 Slfn14 schlafen family member 14 gene DOID:630 genetic disease ISO RGD:1602272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26280575|PMID:28492532|PMID:29678925 8936309 Mtdh metadherin gene DOID:630 genetic disease ISO RGD:735692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936309 Mtdh metadherin gene DOID:684 hepatocellular carcinoma treatment ISO RGD:735692 D RGD:9068941 20210528 RGD human cells in a mouse model PMID:26351209|REF_RGD_ID:11096879 8936309 Mtdh metadherin gene DOID:9000965 Neoplasm Metastasis ISO RGD:735692 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19111877 8936309 Mtdh metadherin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29315995 8936309 Mtdh metadherin gene DOID:9008443 Colorectal Neoplasms ISO RGD:735692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29315995 8936309 Mtdh metadherin gene DOID:9008939 Breast Neoplasms ISO RGD:735692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19111877 8936327 Armh1 armadillo like helical domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8936327 Armh1 armadillo like helical domain containing 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8936327 Armh1 armadillo like helical domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:0050693 Brooke-Spiegler syndrome ISO RGD:1319183 D RGD:7240710 20180130 OMIM 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:0050693 Brooke-Spiegler syndrome ISO RGD:1319183 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brooke-Spiegler syndrome | ClinVar Annotator: match by term: Familial cylindromatosis | ClinVar Annotator: match by term: Familial multiple trichoepitheliomata | ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 1 PMID:10835629|PMID:12190880|PMID:12950348|PMID:14632188|PMID:15854031|PMID:16307661|PMID:16922728|PMID:19462465|PMID:19807742|PMID:24728327|PMID:25741868|PMID:28492532 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:0111122 nephronophthisis 14 ISO RGD:1319183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:11573 listeriosis ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23825949 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:2394 ovarian cancer ISO RGD:1319183 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:3275 thymoma ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24974848 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:630 genetic disease ISO RGD:1319183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:684 hepatocellular carcinoma ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21109933 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1319183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29477382 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:9004464 Skin Neoplasms susceptibility ISO RGD:1319183 D RGD:9068941 20200609 RGD familial cylindromatosis, OMIM:132700;DNA:nonsense mutations PMID:10835629|REF_RGD_ID:1601033 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:9007226 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 ISO RGD:1319183 D RGD:7240710 20210113 OMIM 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:9007226 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 ISO RGD:1319183 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 PMID:10835629|PMID:19462465|PMID:23338750|PMID:24728327|PMID:25741868|PMID:28492532|PMID:32185393 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:9008454 Trichoepithelioma, Multiple Familial, 2 ISO RGD:1319183 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 2 PMID:25741868 8936361 Cyld CYLD lysine 63 deubiquitinase gene DOID:9538 multiple myeloma ISO RGD:1319183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8936409 Astn1 astrotactin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8936409 Astn1 astrotactin 1 gene DOID:630 genetic disease ISO RGD:1602904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936409 Astn1 astrotactin 1 gene DOID:9000998 Brain Injuries ISO RGD:1602904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14499481 8936409 Astn1 astrotactin 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8936409 Astn1 astrotactin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:0050763 ARC syndrome ISO RGD:732726 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arthrogryposis with renal dysfunction and cholestasis syndrome PMID:25741868|PMID:28492532 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:732726 D RGD:9068941 20200609 RGD ARC syndrome, OMIM:208085 PMID:15052268|REF_RGD_ID:1599749 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:732726 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:732726 D RGD:7240710 20190918 OMIM 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:732726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:11668108|PMID:15052268|PMID:16896922|PMID:17576681|PMID:17994566|PMID:18853461|PMID:19274792|PMID:21851503|PMID:22753090|PMID:24782640|PMID:24917129|PMID:25741868|PMID:26505894|PMID:28492532|PMID:29907094|PMID:31343487|PMID:31479177|PMID:8151641|PMID:9536098 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:10907 microcephaly ISO RGD:732726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:13580 cholestasis ISO RGD:732726 D RGD:9068941 20200609 RGD ARC syndrome, OMIM:208085 PMID:15052268|REF_RGD_ID:1599749 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:2213 hemorrhagic disease ISO RGD:732726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:557 kidney disease ISO RGD:732726 D RGD:9068941 20200609 RGD ARC syndrome, OMIM:208085 PMID:15052268|REF_RGD_ID:1599749 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:630 genetic disease ISO RGD:732726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22753090|PMID:25741868|PMID:26505894|PMID:28492532|PMID:29907094|PMID:31343487|PMID:9536098 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:732726 D RGD:7240710 20220831 OMIM 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:732726 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive PMID:25741868|PMID:28017832 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:9001910 Progressive Familial Intrahepatic Cholestasis 12 ISO RGD:732726 D RGD:7240710 20220831 OMIM 8936447 Vps33b VPS33B late endosome and lysosome associated gene DOID:9001910 Progressive Familial Intrahepatic Cholestasis 12 ISO RGD:732726 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 12 PMID:18853461|PMID:25741868|PMID:31479177 8936476 Dmwd DM1 locus, WD repeat containing gene DOID:630 genetic disease ISO RGD:1346083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936487 Pja2 praja ring finger ubiquitin ligase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8936487 Pja2 praja ring finger ubiquitin ligase 2 gene DOID:630 genetic disease ISO RGD:733552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936487 Pja2 praja ring finger ubiquitin ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8936487 Pja2 praja ring finger ubiquitin ligase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8936504 Lipm lipase family member M gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1312623 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 8936504 Lipm lipase family member M gene DOID:630 genetic disease ISO RGD:1312623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936504 Lipm lipase family member M gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1312623 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 8936517 C2cd2 C2 calcium dependent domain containing 2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1351796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8936517 C2cd2 C2 calcium dependent domain containing 2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1351796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8936517 C2cd2 C2 calcium dependent domain containing 2 gene DOID:630 genetic disease ISO RGD:1351796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936517 C2cd2 C2 calcium dependent domain containing 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1351796 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8936517 C2cd2 C2 calcium dependent domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8936517 C2cd2 C2 calcium dependent domain containing 2 gene DOID:9263 homocystinuria ISO RGD:1351796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8936517 C2cd2 C2 calcium dependent domain containing 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351796 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8936534 Pmp22 peripheral myelin protein 22 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:69112 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:10078969|PMID:10093067|PMID:10211478|PMID:10330345|PMID:10399754|PMID:10586280|PMID:10775544|PMID:10915775|PMID:10982389|PMID:11081809|PMID:11139264|PMID:11314784|PMID:11545686|PMID:11835375|PMID:11920834|PMID:12090404|PMID:12207933|PMID:12402337|PMID:12796555|PMID:12901701|PMID:1303230|PMID:1303281|PMID:14502374|PMID:15099590|PMID:15099592|PMID:15241803|PMID:15285778|PMID:15474367|PMID:1552943|PMID:15537650|PMID:1564512|PMID:16199547|PMID:16288874|PMID:16437560|PMID:1677316|PMID:17576681|PMID:1822787|PMID:18642376|PMID:18698610|PMID:18795802|PMID:19067730|PMID:19259128|PMID:19543269|PMID:19691535|PMID:20301384|PMID:20301566|PMID:20453308|PMID:20493460|PMID:20516806|PMID:20739940|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21337347|PMID:21692910|PMID:21827951|PMID:21840889|PMID:22006697|PMID:22131320|PMID:22190321|PMID:23224996|PMID:23263778|PMID:23649551|PMID:23689413|PMID:23965407|PMID:24646194|PMID:25385046|PMID:25400662|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25640679|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26392352|PMID:26454100|PMID:26467025|PMID:28286897|PMID:28333917|PMID:28374912|PMID:28382305|PMID:28492532|PMID:28600779|PMID:28660751|PMID:28748849|PMID:28981955|PMID:29127354|PMID:29653220|PMID:29896895|PMID:30675404|PMID:31211173|PMID:31393079|PMID:31664448|PMID:32376792|PMID:32412171|PMID:32513719|PMID:32719652|PMID:33131168|PMID:33933451|PMID:34332267|PMID:34426522|PMID:3467805|PMID:36581210|PMID:6313869|PMID:7139106|PMID:7649472|PMID:7728152|PMID:7829101|PMID:8012365|PMID:8252046|PMID:8275092|PMID:8492918|PMID:8510709|PMID:8655153|PMID:8777804|PMID:8894410|PMID:8988161|PMID:8995589|PMID:9004143|PMID:9040737|PMID:9040744|PMID:9055797|PMID:9187667|PMID:9324088|PMID:9371959|PMID:9425015|PMID:9452053|PMID:9452099|PMID:9536098|PMID:9544841|PMID:9585367|PMID:9678704|PMID:9712007|PMID:9748013|PMID:9888385 8936534 Pmp22 peripheral myelin protein 22 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:69112 D RGD:7240710 20180425 OMIM 8936534 Pmp22 peripheral myelin protein 22 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:69112 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 3 | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant PMID:10078969|PMID:10093067|PMID:10211478|PMID:10399754|PMID:10663978|PMID:10982389|PMID:11139264|PMID:11314784|PMID:12090401|PMID:12439896|PMID:12901701|PMID:15285778|PMID:15474367|PMID:1552943|PMID:15537650|PMID:15992829|PMID:18698610|PMID:18795802|PMID:21670407|PMID:21840889|PMID:22006697|PMID:25385046|PMID:25741868|PMID:26102530|PMID:26392352|PMID:28492532|PMID:32719652|PMID:3467805|PMID:7728152|PMID:7825607|PMID:8275092|PMID:8422677|PMID:8541860|PMID:8995589|PMID:9004143|PMID:9055797|PMID:9187667|PMID:9425015|PMID:9452053|PMID:9544841|PMID:9585367|PMID:9888385 8936534 Pmp22 peripheral myelin protein 22 gene DOID:0060041 autism spectrum disorder ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 8936534 Pmp22 peripheral myelin protein 22 gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:69112 D RGD:7240710 20180130 OMIM 8936534 Pmp22 peripheral myelin protein 22 gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:69112 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies | ClinVar Annotator: match by term: Hereditary liability to pressure palsies | ClinVar Annotator: match by term: Tomaculous neuropathy PMID:10078969|PMID:10211478|PMID:10330345|PMID:10586280|PMID:11081809|PMID:11545686|PMID:11920834|PMID:12439896|PMID:12796555|PMID:14502374|PMID:15205993|PMID:15474367|PMID:15537650|PMID:15955700|PMID:16288874|PMID:16437560|PMID:17620487|PMID:18698610|PMID:19067730|PMID:19691535|PMID:20301384|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21670407|PMID:21692910|PMID:23965407|PMID:24239057|PMID:24646194|PMID:25400662|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26392352|PMID:26467025|PMID:28333917|PMID:28374912|PMID:28492532|PMID:29108667|PMID:30675404|PMID:31664448|PMID:32513719|PMID:32719652|PMID:33933451|PMID:34426522|PMID:36581210|PMID:7649472|PMID:7825607|PMID:8012388|PMID:8252046|PMID:8422677|PMID:8541860|PMID:8894410|PMID:8988161|PMID:9040737|PMID:9371959|PMID:9452099|PMID:9678704|PMID:9712007 8936534 Pmp22 peripheral myelin protein 22 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:69112 D RGD:7240710 20180130 OMIM 8936534 Pmp22 peripheral myelin protein 22 gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:69112 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA | ClinVar Annotator: match by term: HMSN 1A PMID:10078969|PMID:10330345|PMID:10399754|PMID:10489052|PMID:10586280|PMID:10915775|PMID:11081809|PMID:11314784|PMID:11545686|PMID:11835375|PMID:11920834|PMID:12090404|PMID:12796555|PMID:1301995|PMID:1303281|PMID:1349106|PMID:14502374|PMID:15205993|PMID:15285778|PMID:15474367|PMID:1552536|PMID:1552545|PMID:15537650|PMID:1564512|PMID:15786462|PMID:16437560|PMID:1677316|PMID:1721895|PMID:17796454|PMID:1822787|PMID:18795802|PMID:19067730|PMID:19259128|PMID:19691535|PMID:20301384|PMID:20516806|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21692910|PMID:21827951|PMID:21840889|PMID:22006697|PMID:23689413|PMID:23965407|PMID:24646194|PMID:25385046|PMID:25429913|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26392352|PMID:26467025|PMID:27549087|PMID:28333917|PMID:28492532|PMID:29108667|PMID:29127354|PMID:29653220|PMID:30675404|PMID:31393079|PMID:31664448|PMID:32376792|PMID:32513719|PMID:33933451|PMID:34426522|PMID:36581210|PMID:475348|PMID:6313869|PMID:7649472|PMID:7728152|PMID:8105684|PMID:8252046|PMID:8275092|PMID:8492918|PMID:8500795|PMID:8510709|PMID:8988161|PMID:8995589|PMID:9004143|PMID:9040737|PMID:9324088|PMID:9371959|PMID:9425015|PMID:9452053|PMID:9452099|PMID:9543325|PMID:9585367|PMID:9712007|PMID:9888385 8936534 Pmp22 peripheral myelin protein 22 gene DOID:0110153 Charcot-Marie-Tooth disease type 1E ISO RGD:69112 D RGD:7240710 20180919 OMIM 8936534 Pmp22 peripheral myelin protein 22 gene DOID:0110153 Charcot-Marie-Tooth disease type 1E ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E PMID:10211478|PMID:10330345|PMID:11545686|PMID:11835375|PMID:11920834|PMID:12578939|PMID:12796555|PMID:15474367|PMID:19067730|PMID:20301384|PMID:20453308|PMID:23279344|PMID:25400662|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28374912|PMID:28492532|PMID:28600779|PMID:32719652|PMID:34332267|PMID:7139106|PMID:7829101|PMID:8995589|PMID:9324088|PMID:9544841 8936534 Pmp22 peripheral myelin protein 22 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:69112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:20301384|PMID:21252112|PMID:21692910|PMID:25741868|PMID:26467025|PMID:28333917|PMID:28492532|PMID:9040737|PMID:9371959|PMID:9712007 8936534 Pmp22 peripheral myelin protein 22 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69112 D RGD:7240710 20180130 OMIM 8936534 Pmp22 peripheral myelin protein 22 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:69112 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10078969|PMID:10093067|PMID:10211478|PMID:10330345|PMID:10586280|PMID:10632107|PMID:10737979|PMID:10775544|PMID:11081809|PMID:11140841|PMID:11369192|PMID:11545686|PMID:11835375|PMID:11920834|PMID:12402337|PMID:12497641|PMID:12578939|PMID:12796555|PMID:12901701|PMID:1301995|PMID:1349106|PMID:14502374|PMID:15099590|PMID:15099592|PMID:15241803|PMID:15474367|PMID:1552536|PMID:1552545|PMID:15537650|PMID:15786462|PMID:16199442|PMID:16437560|PMID:1677316|PMID:16922730|PMID:1721895|PMID:17576681|PMID:17620487|PMID:17707409|PMID:17796454|PMID:1822787|PMID:18380017|PMID:18642376|PMID:19067730|PMID:19259128|PMID:19691535|PMID:19830275|PMID:19909487|PMID:20301384|PMID:20453308|PMID:20516806|PMID:20842290|PMID:21149811|PMID:21194947|PMID:21228398|PMID:21252112|PMID:21337347|PMID:21692910|PMID:22006697|PMID:22131320|PMID:22382358|PMID:22730194|PMID:23224996|PMID:23263778|PMID:23279344|PMID:23313019|PMID:23965407|PMID:24239057|PMID:24646194|PMID:25192979|PMID:25400662|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25741868|PMID:26012543|PMID:26102530|PMID:26110377|PMID:26392352|PMID:26467025|PMID:27067623|PMID:28286897|PMID:28333917|PMID:28492532|PMID:28660751|PMID:28748849|PMID:29108667|PMID:29127354|PMID:29653220|PMID:29896895|PMID:30675404|PMID:31211173|PMID:31393079|PMID:31664448|PMID:32376792|PMID:32513719|PMID:32719652|PMID:33933451|PMID:34332267|PMID:34426522|PMID:3467805|PMID:36581210|PMID:475348|PMID:7649472|PMID:7728152|PMID:8012365|PMID:8012388|PMID:8105684|PMID:8252046|PMID:8500795|PMID:8615087|PMID:8777804|PMID:8988161|PMID:9040737|PMID:9040744|PMID:9187667|PMID:9324088|PMID:9371959|PMID:9452099|PMID:9536098|PMID:9543325|PMID:9585367|PMID:9712007|PMID:9748013 8936534 Pmp22 peripheral myelin protein 22 gene DOID:11446 sciatic neuropathy ISO RGD:3359 D RGD:9068941 20200609 RGD PMID:1556154|REF_RGD_ID:1358785 8936534 Pmp22 peripheral myelin protein 22 gene DOID:12377 spinal muscular atrophy ISO RGD:69112 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:25741868|PMID:26467025|PMID:28492532 8936534 Pmp22 peripheral myelin protein 22 gene DOID:12835 quadriplegia ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 8936534 Pmp22 peripheral myelin protein 22 gene DOID:12842 Guillain-Barre syndrome ISO RGD:69112 D RGD:7240710 20180130 OMIM 8936534 Pmp22 peripheral myelin protein 22 gene DOID:12842 Guillain-Barre syndrome ISO RGD:69112 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Guillain-Barre syndrome, familial PMID:12402337|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532|PMID:28981955 8936534 Pmp22 peripheral myelin protein 22 gene DOID:12849 autistic disorder ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8936534 Pmp22 peripheral myelin protein 22 gene DOID:2477 motor peripheral neuropathy ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17701891 8936534 Pmp22 peripheral myelin protein 22 gene DOID:3213 demyelinating disease ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20739560 8936534 Pmp22 peripheral myelin protein 22 gene DOID:5419 schizophrenia ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8936534 Pmp22 peripheral myelin protein 22 gene DOID:574 peripheral nervous system disease ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 8936534 Pmp22 peripheral myelin protein 22 gene DOID:630 genetic disease ISO RGD:69112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10078969|PMID:10399754|PMID:10775544|PMID:11314784|PMID:12901701|PMID:15285778|PMID:17576681|PMID:20516806|PMID:21149811|PMID:21252112|PMID:21337347|PMID:21840889|PMID:23965407|PMID:25429913|PMID:25741868|PMID:26102530|PMID:26467025|PMID:28286897|PMID:28374912|PMID:28492532|PMID:28660751|PMID:28748849|PMID:28981955|PMID:29653220|PMID:31393079|PMID:32376792|PMID:32719652|PMID:3467805|PMID:7728152|PMID:8275092|PMID:9004143|PMID:9040744|PMID:9187667|PMID:9536098|PMID:9585367|PMID:9888385 8936534 Pmp22 peripheral myelin protein 22 gene DOID:870 neuropathy ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 8936534 Pmp22 peripheral myelin protein 22 gene DOID:9001745 Fasciculation ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tongue fasciculations PMID:25741868 8936534 Pmp22 peripheral myelin protein 22 gene DOID:9003242 Paresthesia ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 8936534 Pmp22 peripheral myelin protein 22 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17275665 8936534 Pmp22 peripheral myelin protein 22 gene DOID:9005219 Abnormal Reflexes ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 8936534 Pmp22 peripheral myelin protein 22 gene DOID:9005532 Muscle Weakness ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12427913 8936534 Pmp22 peripheral myelin protein 22 gene DOID:9007428 Muscle Spasticity ISO RGD:69112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868 8936534 Pmp22 peripheral myelin protein 22 gene DOID:9008086 Developmental Disabilities ISO RGD:69112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17275665 8936546 Fgf22 fibroblast growth factor 22 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:733776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8936546 Fgf22 fibroblast growth factor 22 gene DOID:5339 cyclic hematopoiesis ISO RGD:733776 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8936546 Fgf22 fibroblast growth factor 22 gene DOID:630 genetic disease ISO RGD:733776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936557 Fbxo8 F-box protein 8 gene DOID:630 genetic disease ISO RGD:1316882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936557 Fbxo8 F-box protein 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8936567 Get1 guided entry of tail-anchored proteins factor 1 gene DOID:12849 autistic disorder ISO RGD:1352136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8936567 Get1 guided entry of tail-anchored proteins factor 1 gene DOID:630 genetic disease ISO RGD:1352136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936567 Get1 guided entry of tail-anchored proteins factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8936579 Map2k5 mitogen-activated protein kinase kinase 5 gene DOID:10283 prostate cancer ISO RGD:735708 D RGD:9068941 20200609 RGD protein:increased expression PMID:12618764|REF_RGD_ID:2298795 8936579 Map2k5 mitogen-activated protein kinase kinase 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:62183 D RGD:9068941 20200609 RGD PMID:11387209|REF_RGD_ID:1580866 8936579 Map2k5 mitogen-activated protein kinase kinase 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735708 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8936579 Map2k5 mitogen-activated protein kinase kinase 5 gene DOID:2717 Bloom syndrome ISO RGD:735708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8936579 Map2k5 mitogen-activated protein kinase kinase 5 gene DOID:630 genetic disease ISO RGD:735708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936579 Map2k5 mitogen-activated protein kinase kinase 5 gene DOID:670 amphetamine abuse ISO RGD:735708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8936579 Map2k5 mitogen-activated protein kinase kinase 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735708 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 8936579 Map2k5 mitogen-activated protein kinase kinase 5 gene DOID:9003936 Cardiomegaly ISO RGD:62183 D RGD:9068941 20200609 RGD PMID:11387209|REF_RGD_ID:1580866 8936579 Map2k5 mitogen-activated protein kinase kinase 5 gene DOID:9007633 Body Weight ISO RGD:735708 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 8936579 Map2k5 mitogen-activated protein kinase kinase 5 gene DOID:9007820 Sudden Death ISO RGD:62183 D RGD:9068941 20200609 RGD PMID:11387209|REF_RGD_ID:1580866 8936579 Map2k5 mitogen-activated protein kinase kinase 5 gene DOID:9256 colorectal cancer ISO RGD:735708 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8936614 Snap25 synaptosome associated protein 25 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25381298|PMID:25741868|PMID:28492532|PMID:33147442|PMID:33299146 8936614 Snap25 synaptosome associated protein 25 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:734151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 8936614 Snap25 synaptosome associated protein 25 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:734151 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:25741868 8936614 Snap25 synaptosome associated protein 25 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:734151 D RGD:7240710 20180130 OMIM 8936614 Snap25 synaptosome associated protein 25 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:734151 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:17576681|PMID:25381298|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33147442|PMID:33299146|PMID:9536098 8936614 Snap25 synaptosome associated protein 25 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25381298|PMID:25741868|PMID:28492532|PMID:33147442|PMID:33299146 8936614 Snap25 synaptosome associated protein 25 gene DOID:1059 intellectual disability ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:33299146 8936614 Snap25 synaptosome associated protein 25 gene DOID:10907 microcephaly ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:33299146 8936614 Snap25 synaptosome associated protein 25 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:734152 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 8936614 Snap25 synaptosome associated protein 25 gene DOID:14250 Down syndrome ISO RGD:734151 D RGD:9068941 20200609 RGD PMID:12499044|REF_RGD_ID:1579958 8936614 Snap25 synaptosome associated protein 25 gene DOID:1596 depressive disorder ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8936614 Snap25 synaptosome associated protein 25 gene DOID:1826 epilepsy ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:28492532|PMID:33299146 8936614 Snap25 synaptosome associated protein 25 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8936614 Snap25 synaptosome associated protein 25 gene DOID:2234 focal epilepsy ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868|PMID:33299146 8936614 Snap25 synaptosome associated protein 25 gene DOID:2303 stereotypic movement disorder ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:25741868|PMID:33299146 8936614 Snap25 synaptosome associated protein 25 gene DOID:2468 psychotic disorder ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8936614 Snap25 synaptosome associated protein 25 gene DOID:3312 bipolar disorder ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8936614 Snap25 synaptosome associated protein 25 gene DOID:3635 congenital myasthenic syndrome ISO RGD:734151 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes 8936614 Snap25 synaptosome associated protein 25 gene DOID:5419 schizophrenia ISO RGD:734152 D RGD:9068941 20220825 MouseDO OMIM:181500 8936614 Snap25 synaptosome associated protein 25 gene DOID:5723 optic atrophy ISO RGD:734151 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:33299146 8936614 Snap25 synaptosome associated protein 25 gene DOID:630 genetic disease ISO RGD:734151 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 8936614 Snap25 synaptosome associated protein 25 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures PMID:25741868|PMID:33299146 8936614 Snap25 synaptosome associated protein 25 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17023870 8936614 Snap25 synaptosome associated protein 25 gene DOID:9003698 ALAGILLE SYNDROME 1 ISO RGD:734151 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532|PMID:32733715 8936614 Snap25 synaptosome associated protein 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8936614 Snap25 synaptosome associated protein 25 gene DOID:9005603 Muscle Hypotonia ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Unilateral Hypotonia PMID:25741868|PMID:33299146 8936614 Snap25 synaptosome associated protein 25 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8936614 Snap25 synaptosome associated protein 25 gene DOID:9007892 Tics ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17023870 8936614 Snap25 synaptosome associated protein 25 gene DOID:9008086 Developmental Disabilities ISO RGD:734151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33299146 8936614 Snap25 synaptosome associated protein 25 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8936614 Snap25 synaptosome associated protein 25 gene DOID:9352 type 2 diabetes mellitus ISO RGD:734152 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8936614 Snap25 synaptosome associated protein 25 gene DOID:9970 obesity ISO RGD:734152 D RGD:9068941 20220825 MouseDO OMIM:601665 8936631 Ube2t ubiquitin conjugating enzyme E2 T gene DOID:0111081 Fanconi anemia complementation group T ISO RGD:1606013 D RGD:7240710 20180130 OMIM 8936631 Ube2t ubiquitin conjugating enzyme E2 T gene DOID:0111081 Fanconi anemia complementation group T ISO RGD:1606013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group T PMID:25741868|PMID:26046368|PMID:26119737|PMID:28492532 8936631 Ube2t ubiquitin conjugating enzyme E2 T gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606013 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8936631 Ube2t ubiquitin conjugating enzyme E2 T gene DOID:1540 parathyroid carcinoma ISO RGD:1606013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8936631 Ube2t ubiquitin conjugating enzyme E2 T gene DOID:684 hepatocellular carcinoma ISO RGD:1606013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8936631 Ube2t ubiquitin conjugating enzyme E2 T gene DOID:9002265 Kidney Neoplasms ISO RGD:1606013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 8936631 Ube2t ubiquitin conjugating enzyme E2 T gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606013 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8936631 Ube2t ubiquitin conjugating enzyme E2 T gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8936649 Pip4p1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1316692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8936649 Pip4p1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 gene DOID:630 genetic disease ISO RGD:1316692 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936663 Chmp4b charged multivesicular body protein 4B gene DOID:0110265 cataract 31 multiple types ISO RGD:1320409 D RGD:7240710 20180130 OMIM 8936663 Chmp4b charged multivesicular body protein 4B gene DOID:0110265 cataract 31 multiple types ISO RGD:1320409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 31 multiple types PMID:10682967|PMID:17701905|PMID:28492532 8936663 Chmp4b charged multivesicular body protein 4B gene DOID:2843 long QT syndrome ISO RGD:1320409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8936663 Chmp4b charged multivesicular body protein 4B gene DOID:630 genetic disease ISO RGD:1320409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936684 Exo5 exonuclease 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8936684 Exo5 exonuclease 5 gene DOID:630 genetic disease ISO RGD:1601975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936723 Ubqln2 ubiquilin 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:19377476|PMID:22560112|PMID:23138764|PMID:25741868|PMID:26467025|PMID:28492532 8936723 Ubqln2 ubiquilin 2 gene DOID:0060206 amyotrophic lateral sclerosis type 15 ISO RGD:1350173 D RGD:7240710 20180130 OMIM 8936723 Ubqln2 ubiquilin 2 gene DOID:0060206 amyotrophic lateral sclerosis type 15 ISO RGD:1350173 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 PMID:19377476|PMID:21857683|PMID:22560112|PMID:22892309|PMID:23138764|PMID:23312802|PMID:24215460|PMID:24771548|PMID:25333069|PMID:25398946|PMID:25616961|PMID:25741868|PMID:26075709|PMID:26467025|PMID:28492532|PMID:28716533|PMID:30348461|PMID:34273246|PMID:35896380 8936723 Ubqln2 ubiquilin 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8936723 Ubqln2 ubiquilin 2 gene DOID:12849 autistic disorder ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8936723 Ubqln2 ubiquilin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:21857683|PMID:25333069|PMID:25616961|PMID:25741868|PMID:26075709|PMID:28492532 8936723 Ubqln2 ubiquilin 2 gene DOID:630 genetic disease ISO RGD:1350173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8936723 Ubqln2 ubiquilin 2 gene DOID:8725 vascular dementia ISO RGD:1350173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 8936752 Dnaaf6 dynein axonemal assembly factor 6 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1353450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8936752 Dnaaf6 dynein axonemal assembly factor 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8936752 Dnaaf6 dynein axonemal assembly factor 6 gene DOID:0111850 primary ciliary dyskinesia 36 ISO RGD:1353450 D RGD:7240710 20190315 OMIM 8936752 Dnaaf6 dynein axonemal assembly factor 6 gene DOID:0111850 primary ciliary dyskinesia 36 ISO RGD:1353450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 36, X-linked PMID:25741868|PMID:28041644|PMID:28492532|PMID:32170493 8936752 Dnaaf6 dynein axonemal assembly factor 6 gene DOID:12849 autistic disorder ISO RGD:1353450 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8936752 Dnaaf6 dynein axonemal assembly factor 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1353450 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:30067075 8936763 Mamld1 mastermind like domain containing 1 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1344424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 8936763 Mamld1 mastermind like domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8936763 Mamld1 mastermind like domain containing 1 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1344424 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 8936763 Mamld1 mastermind like domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1344424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8936763 Mamld1 mastermind like domain containing 1 gene DOID:10892 hypospadias ISO RGD:1344424 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21559465 8936763 Mamld1 mastermind like domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1344424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8936763 Mamld1 mastermind like domain containing 1 gene DOID:1923 disorder of sexual development ISO RGD:1344424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8936763 Mamld1 mastermind like domain containing 1 gene DOID:630 genetic disease ISO RGD:1344424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936763 Mamld1 mastermind like domain containing 1 gene DOID:9003647 Hypospadias 2, X-Linked ISO RGD:1344424 D RGD:7240710 20180130 OMIM 8936763 Mamld1 mastermind like domain containing 1 gene DOID:9003647 Hypospadias 2, X-Linked ISO RGD:1344424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypospadias 2, X-linked PMID:17086185|PMID:20347055|PMID:25741868|PMID:28492532|PMID:32690052|PMID:33424767 8936772 Pwp2 PWP2 small subunit processome component gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1317740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:28492532|PMID:8596935 8936772 Pwp2 PWP2 small subunit processome component gene DOID:0110266 cataract 9 multiple types ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8936772 Pwp2 PWP2 small subunit processome component gene DOID:12849 autistic disorder ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8936772 Pwp2 PWP2 small subunit processome component gene DOID:630 genetic disease ISO RGD:1317740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936772 Pwp2 PWP2 small subunit processome component gene DOID:891 progressive myoclonus epilepsy ISO RGD:1317740 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8936772 Pwp2 PWP2 small subunit processome component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8936772 Pwp2 PWP2 small subunit processome component gene DOID:9263 homocystinuria ISO RGD:1317740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8936772 Pwp2 PWP2 small subunit processome component gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317740 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8936815 Prdm14 PR/SET domain 14 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1316344 D RGD:9068941 20220708 RGD DNA:hypermethylation PMID:27777637|REF_RGD_ID:152998954 8936815 Prdm14 PR/SET domain 14 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1316344 D RGD:9068941 20211210 RGD PMID:23690269|REF_RGD_ID:150530468 8936815 Prdm14 PR/SET domain 14 gene DOID:630 genetic disease ISO RGD:1316344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936815 Prdm14 PR/SET domain 14 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1316344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666240 8936815 Prdm14 PR/SET domain 14 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1316344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19043588 8936852 Tmprss15 transmembrane serine protease 15 gene DOID:0111667 enterokinase deficiency ISO RGD:1322295 D RGD:7240710 20190315 OMIM 8936852 Tmprss15 transmembrane serine protease 15 gene DOID:0111667 enterokinase deficiency ISO RGD:1322295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enterokinase deficiency | ClinVar Annotator: match by term: TMPRSS15-related condition PMID:1147667|PMID:11719902|PMID:16199547|PMID:25741868|PMID:28492532|PMID:4322674 8936852 Tmprss15 transmembrane serine protease 15 gene DOID:10652 Alzheimer's disease ISO RGD:1322295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8936852 Tmprss15 transmembrane serine protease 15 gene DOID:630 genetic disease ISO RGD:1322295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8936852 Tmprss15 transmembrane serine protease 15 gene DOID:9004324 Congenital, Hereditary, and Neonatal Diseases and Abnormalities ISO RGD:1322295 D RGD:9068941 20200609 RGD PMID:11719902|REF_RGD_ID:1599212 8936852 Tmprss15 transmembrane serine protease 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322295 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8936878 Trappc2l trafficking protein particle complex subunit 2L gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 8936878 Trappc2l trafficking protein particle complex subunit 2L gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604619 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8936878 Trappc2l trafficking protein particle complex subunit 2L gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1604619 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10479485|PMID:12442278|PMID:15241807|PMID:16199547|PMID:16287098|PMID:16378744|PMID:17576681|PMID:17876718|PMID:18710657|PMID:21896407|PMID:22078177|PMID:23844448|PMID:23876334|PMID:24120057|PMID:24726177|PMID:25252036|PMID:25545067|PMID:25741868|PMID:26147980|PMID:27317439|PMID:27825773|PMID:28492532|PMID:30809705|PMID:30980944|PMID:34387910|PMID:35729508|PMID:7795586|PMID:8829629|PMID:9298823|PMID:9375852|PMID:9536098 8936878 Trappc2l trafficking protein particle complex subunit 2L gene DOID:1059 intellectual disability ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32843486 8936878 Trappc2l trafficking protein particle complex subunit 2L gene DOID:14780 KBG syndrome ISO RGD:1604619 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:21782149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31690835 8936878 Trappc2l trafficking protein particle complex subunit 2L gene DOID:630 genetic disease ISO RGD:1604619 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8936878 Trappc2l trafficking protein particle complex subunit 2L gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8936878 Trappc2l trafficking protein particle complex subunit 2L gene DOID:9009062 Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis ISO RGD:1604619 D RGD:7240710 20190315 OMIM 8936878 Trappc2l trafficking protein particle complex subunit 2L gene DOID:9009062 Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis ISO RGD:1604619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis PMID:21782149|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30120216|PMID:32843486 8936915 Pom121l12 POM121 transmembrane nucleoporin like 12 gene DOID:12849 autistic disorder ISO RGD:1601803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8936915 Pom121l12 POM121 transmembrane nucleoporin like 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8936915 Pom121l12 POM121 transmembrane nucleoporin like 12 gene DOID:630 genetic disease ISO RGD:1601803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936924 Usp40 ubiquitin specific peptidase 40 gene DOID:0060476 Perlman syndrome ISO RGD:1320045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8936924 Usp40 ubiquitin specific peptidase 40 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1320045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8936924 Usp40 ubiquitin specific peptidase 40 gene DOID:630 genetic disease ISO RGD:1320045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8936960 Tm4sf20 transmembrane 4 L six family member 20 gene DOID:630 genetic disease ISO RGD:1605628 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8936960 Tm4sf20 transmembrane 4 L six family member 20 gene DOID:9004636 Specific Language Impairment 5 ISO RGD:1605628 D RGD:7240710 20180130 OMIM 8936960 Tm4sf20 transmembrane 4 L six family member 20 gene DOID:9004636 Specific Language Impairment 5 ISO RGD:1605628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific language impairment 5 PMID:19557438|PMID:20848651|PMID:23806086|PMID:23810381|PMID:24088043|PMID:25741868 8936968 Bbip1 BBSome interacting protein 1 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:2300355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 8936968 Bbip1 BBSome interacting protein 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia 8936968 Bbip1 BBSome interacting protein 1 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:24026985 8936968 Bbip1 BBSome interacting protein 1 gene DOID:0110140 Bardet-Biedl syndrome 18 ISO RGD:2300355 D RGD:7240710 20180130 OMIM 8936968 Bbip1 BBSome interacting protein 1 gene DOID:0110140 Bardet-Biedl syndrome 18 ISO RGD:2300355 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BBIP1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 18 PMID:17576681|PMID:24026985|PMID:25741868|PMID:28492532|PMID:32055034|PMID:32552793|PMID:9536098 8936968 Bbip1 BBSome interacting protein 1 gene DOID:0110447 dilated cardiomyopathy 1DD ISO RGD:2300355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 8936968 Bbip1 BBSome interacting protein 1 gene DOID:630 genetic disease ISO RGD:2300355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8936991 Snph syntaphilin gene DOID:630 genetic disease ISO RGD:1314155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937013 Sstr5 somatostatin receptor 5 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8937013 Sstr5 somatostatin receptor 5 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736501 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8937013 Sstr5 somatostatin receptor 5 gene DOID:1824 status epilepticus ISO RGD:736501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 8937013 Sstr5 somatostatin receptor 5 gene DOID:1826 epilepsy ISO RGD:736501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8937013 Sstr5 somatostatin receptor 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8937013 Sstr5 somatostatin receptor 5 gene DOID:3312 bipolar disorder ISO RGD:736501 D RGD:9068941 20200609 RGD DNA:SNP, missense mutations, haplotype: :573G>A, p.L48M, p.P335L (human) PMID:12192619|REF_RGD_ID:1358589 8937013 Sstr5 somatostatin receptor 5 gene DOID:630 genetic disease ISO RGD:736501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937013 Sstr5 somatostatin receptor 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3765 D RGD:9068941 20200609 RGD PMID:7956902|REF_RGD_ID:2325008 8937024 Ccdc126 coiled-coil domain containing 126 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8937024 Ccdc126 coiled-coil domain containing 126 gene DOID:630 genetic disease ISO RGD:1602081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937024 Ccdc126 coiled-coil domain containing 126 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8937040 Smc3 structural maintenance of chromosomes 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8937040 Smc3 structural maintenance of chromosomes 3 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 8937040 Smc3 structural maintenance of chromosomes 3 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1354451 D RGD:7240710 20190424 OMIM 8937040 Smc3 structural maintenance of chromosomes 3 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:1354451 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:17576681|PMID:18414213|PMID:24088041|PMID:25125236|PMID:25574841|PMID:25655089|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26633542|PMID:26633545|PMID:28492532|PMID:30158690|PMID:31038196|PMID:31334757|PMID:9536098 8937040 Smc3 structural maintenance of chromosomes 3 gene DOID:1059 intellectual disability ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26633542|PMID:28492532 8937040 Smc3 structural maintenance of chromosomes 3 gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1354451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: De Lange syndrome PMID:18414213|PMID:25741868|PMID:28492532 8937040 Smc3 structural maintenance of chromosomes 3 gene DOID:630 genetic disease ISO RGD:1354451 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:19344873|PMID:21139566|PMID:25125236|PMID:25655089|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28286005|PMID:28492532|PMID:28607419|PMID:9536098 8937040 Smc3 structural maintenance of chromosomes 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1354451 D RGD:9068941 20230223 RGD mRNA:increased editing:cds:p.K96R,p.Q103R(human) PMID:29996118|REF_RGD_ID:156430111 8937040 Smc3 structural maintenance of chromosomes 3 gene DOID:8692 myeloid leukemia ISO RGD:1354451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 8937040 Smc3 structural maintenance of chromosomes 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354451 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8937083 Abtb2 ankyrin repeat and BTB domain containing 2 gene DOID:1059 intellectual disability ISO RGD:733617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8937083 Abtb2 ankyrin repeat and BTB domain containing 2 gene DOID:630 genetic disease ISO RGD:733617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937130 Pik3c3 phosphatidylinositol 3-kinase catalytic subunit type 3 gene DOID:1059 intellectual disability ISO RGD:732994 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8937130 Pik3c3 phosphatidylinositol 3-kinase catalytic subunit type 3 gene DOID:630 genetic disease ISO RGD:732994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937194 Steap3 STEAP3 metalloreductase gene DOID:0080600 COVID-19 ISO RGD:1605372 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8937194 Steap3 STEAP3 metalloreductase gene DOID:630 genetic disease ISO RGD:1605372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8937194 Steap3 STEAP3 metalloreductase gene DOID:9001631 Hypochromic Microcytic Anemia with Iron Overload ISO RGD:1605372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8937194 Steap3 STEAP3 metalloreductase gene DOID:9008190 Hypochromic Microcytic Anemia with Iron Overload 2 ISO RGD:1605372 D RGD:7240710 20180130 OMIM 8937194 Steap3 STEAP3 metalloreductase gene DOID:9008190 Hypochromic Microcytic Anemia with Iron Overload 2 ISO RGD:1605372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2 PMID:22031863 8937217 Kcnb2 potassium voltage-gated channel subfamily B member 2 gene DOID:630 genetic disease ISO RGD:732631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937217 Kcnb2 potassium voltage-gated channel subfamily B member 2 gene DOID:9256 colorectal cancer ISO RGD:732631 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8937224 Haus4 HAUS augmin like complex subunit 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8937224 Haus4 HAUS augmin like complex subunit 4 gene DOID:630 genetic disease ISO RGD:1313228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937224 Haus4 HAUS augmin like complex subunit 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8937224 Haus4 HAUS augmin like complex subunit 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313228 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8937257 Trappc3 trafficking protein particle complex subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8937257 Trappc3 trafficking protein particle complex subunit 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 8937257 Trappc3 trafficking protein particle complex subunit 3 gene DOID:630 genetic disease ISO RGD:1319308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8937280 Zfp41 ZFP41 zinc finger protein gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1606662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8937280 Zfp41 ZFP41 zinc finger protein gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1606662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8937280 Zfp41 ZFP41 zinc finger protein gene DOID:4621 holoprosencephaly ISO RGD:1606662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8937280 Zfp41 ZFP41 zinc finger protein gene DOID:630 genetic disease ISO RGD:1606662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937284 Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:630 genetic disease ISO RGD:1345880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937284 Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9003692 NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES ISO RGD:1345880 D RGD:7240710 20221214 OMIM 8937284 Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9003692 NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES ISO RGD:1345880 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dystonia and seizures PMID:25741868|PMID:34542157|PMID:36847845 8937284 Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9007245 Dystonia 35, Childhood-Onset ISO RGD:1345880 D RGD:7240710 20220629 OMIM 8937284 Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor gene DOID:9007245 Dystonia 35, Childhood-Onset ISO RGD:1345880 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Dystonia 35, childhood-onset PMID:34542157 8937325 Paip1 poly(A) binding protein interacting protein 1 gene DOID:630 genetic disease ISO RGD:1313834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937325 Paip1 poly(A) binding protein interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8937340 Cpd carboxypeptidase D gene DOID:0111253 neurofibromatosis 1 ISO RGD:731463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8937340 Cpd carboxypeptidase D gene DOID:630 genetic disease ISO RGD:731463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937372 Golgb1 golgin B1 gene DOID:12712 nephronophthisis ISO RGD:1351894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:20881296|PMID:28492532 8937372 Golgb1 golgin B1 gene DOID:2256 osteochondrodysplasia ISO RGD:708429 D RGD:9068941 20210122 RGD DNA:frameshift mutation:exon 13: (rat) PMID:21851869|REF_RGD_ID:40902994 8937372 Golgb1 golgin B1 gene DOID:630 genetic disease ISO RGD:1351894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937372 Golgb1 golgin B1 gene DOID:674 cleft palate ISO RGD:1557666 D RGD:9068941 20220825 MouseDO 8937372 Golgb1 golgin B1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1351894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8937372 Golgb1 golgin B1 gene DOID:9270 alkaptonuria ISO RGD:1351894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8937409 Tmem81 transmembrane protein 81 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606867 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8937409 Tmem81 transmembrane protein 81 gene DOID:12849 autistic disorder ISO RGD:1606867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8937409 Tmem81 transmembrane protein 81 gene DOID:1540 parathyroid carcinoma ISO RGD:1606867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8937409 Tmem81 transmembrane protein 81 gene DOID:630 genetic disease ISO RGD:1606867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937409 Tmem81 transmembrane protein 81 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606867 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8937409 Tmem81 transmembrane protein 81 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8937415 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:0110800 hereditary spastic paraplegia 48 ISO RGD:1626268 D RGD:7240710 20180130 OMIM 8937415 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:0110800 hereditary spastic paraplegia 48 ISO RGD:1626268 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 PMID:16199547|PMID:17576681|PMID:20613862|PMID:24033266|PMID:24482476|PMID:24833714|PMID:24926664|PMID:25333062|PMID:25741868|PMID:26085577|PMID:26467025|PMID:27165006|PMID:27606357|PMID:28492532|PMID:28832565|PMID:29908077|PMID:30564185|PMID:31289639|PMID:31673878|PMID:31785789|PMID:32655478|PMID:32860008|PMID:32989326|PMID:34426522|PMID:9536098 8937415 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:11372 megacolon ISO RGD:1626268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8937415 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1626268 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:17576681|PMID:20613862|PMID:24033266|PMID:24833714|PMID:24926664|PMID:25333062|PMID:25741868|PMID:26467025|PMID:27606357|PMID:28492532|PMID:28832565|PMID:9536098 8937415 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:607 paraplegia ISO RGD:1626268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8937415 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:630 genetic disease ISO RGD:1626268 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:20613862|PMID:25741868|PMID:26467025|PMID:27606357|PMID:28492532 8937415 Ap5z1 adaptor related protein complex 5 subunit zeta 1 gene DOID:9002189 High Myopia ISO RGD:1626268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 8937439 Cldn5 claudin 5 gene DOID:0060041 autism spectrum disorder ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8937439 Cldn5 claudin 5 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:68644 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8937439 Cldn5 claudin 5 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:68644 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8937439 Cldn5 claudin 5 gene DOID:0060496 respiratory allergy ISO RGD:68644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 8937439 Cldn5 claudin 5 gene DOID:0111996 immunodeficiency 51 ISO RGD:68644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8937439 Cldn5 claudin 5 gene DOID:1059 intellectual disability ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8937439 Cldn5 claudin 5 gene DOID:11198 DiGeorge syndrome ISO RGD:68644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8937439 Cldn5 claudin 5 gene DOID:11372 megacolon ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8937439 Cldn5 claudin 5 gene DOID:12583 velocardiofacial syndrome ISO RGD:68644 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8937439 Cldn5 claudin 5 gene DOID:12849 autistic disorder ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8937439 Cldn5 claudin 5 gene DOID:1790 malignant mesothelioma ISO RGD:68644 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 8937439 Cldn5 claudin 5 gene DOID:1826 epilepsy ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8937439 Cldn5 claudin 5 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:68431 D RGD:9068941 20200609 RGD PMID:24842554|REF_RGD_ID:13204729 8937439 Cldn5 claudin 5 gene DOID:5419 schizophrenia ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8937439 Cldn5 claudin 5 gene DOID:612 primary immunodeficiency disease ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8937439 Cldn5 claudin 5 gene DOID:630 genetic disease ISO RGD:68644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937439 Cldn5 claudin 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8937439 Cldn5 claudin 5 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:68431 D RGD:9068941 20200609 RGD protein:decreased expression:colon: PMID:19929946|REF_RGD_ID:2325127 8937439 Cldn5 claudin 5 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:68644 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8937444 Galnt1 polypeptide N-acetylgalactosaminyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:736264 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8937444 Galnt1 polypeptide N-acetylgalactosaminyltransferase 1 gene DOID:4079 heart valve disease ISO RGD:733502 D RGD:9068941 20220825 MouseDO 8937444 Galnt1 polypeptide N-acetylgalactosaminyltransferase 1 gene DOID:630 genetic disease ISO RGD:736264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937460 Fam227b family with sequence similarity 227 member B gene DOID:2717 Bloom syndrome ISO RGD:1605268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8937460 Fam227b family with sequence similarity 227 member B gene DOID:630 genetic disease ISO RGD:1605268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937460 Fam227b family with sequence similarity 227 member B gene DOID:9256 colorectal cancer ISO RGD:1605268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8937492 C5ar1 complement C5a receptor 1 gene DOID:0060903 thrombosis ISO RGD:70553 D RGD:9068941 20200609 RGD associated with Anti-Glomerular Basement Membrane Disease PMID:11422211|REF_RGD_ID:1600652 8937492 C5ar1 complement C5a receptor 1 gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:733148 D RGD:9068941 20200625 RGD PMID:30634407|REF_RGD_ID:30309958 8937492 C5ar1 complement C5a receptor 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:733148 D RGD:9068941 20200609 RGD PMID:11292607|REF_RGD_ID:5130168 8937492 C5ar1 complement C5a receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:1350810 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:12759460|REF_RGD_ID:5130177 8937492 C5ar1 complement C5a receptor 1 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:16782534|REF_RGD_ID:2303017 8937492 C5ar1 complement C5a receptor 1 gene DOID:1227 neutropenia ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:10516626|REF_RGD_ID:5130180 8937492 C5ar1 complement C5a receptor 1 gene DOID:14115 toxic shock syndrome ISO RGD:1350810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18063050 8937492 C5ar1 complement C5a receptor 1 gene DOID:2841 asthma ISO RGD:70553 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 8937492 C5ar1 complement C5a receptor 1 gene DOID:2841 asthma ISO RGD:733148 D RGD:9068941 20200609 RGD PMID:16511606|PMID:20802484|REF_RGD_ID:5129681|REF_RGD_ID:5130166 8937492 C5ar1 complement C5a receptor 1 gene DOID:2841 asthma ISO RGD:733148 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 8937492 C5ar1 complement C5a receptor 1 gene DOID:2841 asthma severity ISO RGD:1350810 D RGD:9068941 20200609 RGD protein:increased expression:respiratory tract PMID:15940127|REF_RGD_ID:5129561 8937492 C5ar1 complement C5a receptor 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1350810 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8937492 C5ar1 complement C5a receptor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1350810 D RGD:9068941 20200609 RGD protein:increased expression:lung, mast cell PMID:19926870|REF_RGD_ID:5130165 8937492 C5ar1 complement C5a receptor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:19050293|REF_RGD_ID:5130169 8937492 C5ar1 complement C5a receptor 1 gene DOID:4483 rhinitis ISO RGD:1350810 D RGD:9068941 20200609 RGD PMID:18538384|REF_RGD_ID:5129559 8937492 C5ar1 complement C5a receptor 1 gene DOID:630 genetic disease ISO RGD:1350810 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8937492 C5ar1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:70553 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 8937492 C5ar1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:733148 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:21421909|REF_RGD_ID:5129564 8937492 C5ar1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:733148 D RGD:9068941 20200609 RGD Acute Lung Injury associated with Pancreatitis, Acute Necrotizing PMID:11292607|REF_RGD_ID:5130168 8937492 C5ar1 complement C5a receptor 1 gene DOID:850 lung disease ISO RGD:733148 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 8937492 C5ar1 complement C5a receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8937492 C5ar1 complement C5a receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:733148 D RGD:9068941 20200609 RGD PMID:15995705|REF_RGD_ID:1600592 8937492 C5ar1 complement C5a receptor 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:70553 D RGD:9068941 20200609 RGD associated with Aortic Aneurysm, Abdominal PMID:14718840|REF_RGD_ID:5130167 8937492 C5ar1 complement C5a receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:15158333|PMID:15159277|REF_RGD_ID:1600597|REF_RGD_ID:5129702 8937492 C5ar1 complement C5a receptor 1 gene DOID:9004484 Sepsis ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:18648551|REF_RGD_ID:5130170 8937492 C5ar1 complement C5a receptor 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:12897064|REF_RGD_ID:5130176 8937492 C5ar1 complement C5a receptor 1 gene DOID:9005930 Endotoxemia ISO RGD:70553 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:9272704|REF_RGD_ID:70679 8937492 C5ar1 complement C5a receptor 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:733148 D RGD:9068941 20200609 RGD protein:increased expression:lung, leukocyte PMID:17544263|REF_RGD_ID:5129560 8937492 C5ar1 complement C5a receptor 1 gene DOID:9970 obesity treatment ISO RGD:70553 D RGD:9068941 20200609 RGD PMID:23118029|REF_RGD_ID:7411625 8937498 Grpr gastrin releasing peptide receptor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8937498 Grpr gastrin releasing peptide receptor gene DOID:12849 autistic disorder ISO RGD:731959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8937498 Grpr gastrin releasing peptide receptor gene DOID:630 genetic disease ISO RGD:731959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937498 Grpr gastrin releasing peptide receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:731959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17204703 8937498 Grpr gastrin releasing peptide receptor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8937498 Grpr gastrin releasing peptide receptor gene DOID:9008023 Memory Disorders ISO RGD:731959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17097693 8937504 Ckap2 cytoskeleton associated protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8937504 Ckap2 cytoskeleton associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1323189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8937504 Ckap2 cytoskeleton associated protein 2 gene DOID:630 genetic disease ISO RGD:1323189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1348855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1348855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1348855 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1348855 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1348855 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:3652 Leigh disease ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:630 genetic disease ISO RGD:1348855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1348855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15091342 8937522 Gpsm1 G protein signaling modulator 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1348855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8937564 Dynlt1 dynein light chain Tctex-type 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732244 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8937564 Dynlt1 dynein light chain Tctex-type 1 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:732244 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 8937564 Dynlt1 dynein light chain Tctex-type 1 gene DOID:630 genetic disease ISO RGD:732244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937573 Rbm7 RNA binding motif protein 7 gene DOID:1059 intellectual disability ISO RGD:1317542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8937573 Rbm7 RNA binding motif protein 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317542 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 8937573 Rbm7 RNA binding motif protein 7 gene DOID:630 genetic disease ISO RGD:1317542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937573 Rbm7 RNA binding motif protein 7 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1317542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8937584 Micos10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1603802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8937584 Micos10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603802 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8937584 Micos10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1603802 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8937584 Micos10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1603802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8937584 Micos10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:630 genetic disease ISO RGD:1603802 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937584 Micos10 mitochondrial contact site and cristae organizing system subunit 10 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1603802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8937609 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1312845 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 8937609 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:0080430 developmental and epileptic encephalopathy 65 ISO RGD:1312845 D RGD:7240710 20190315 OMIM 8937609 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:0080430 developmental and epileptic encephalopathy 65 ISO RGD:1312845 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65 PMID:21107423|PMID:25741868|PMID:25741869|PMID:25741870|PMID:26582918|PMID:28492532|PMID:29534297|PMID:29667327|PMID:30664714|PMID:33149277 8937609 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1312845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30664714 8937609 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:1826 epilepsy ISO RGD:1312845 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:29667327|PMID:30664714|PMID:33149277 8937609 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1312845 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:29667327|PMID:30664714|PMID:33149277 8937609 Cyfip2 cytoplasmic FMR1 interacting protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1312845 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741870|PMID:30664714 8937693 P2ry6 pyrimidinergic receptor P2Y6 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:736435 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8937693 P2ry6 pyrimidinergic receptor P2Y6 gene DOID:1059 intellectual disability ISO RGD:736435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8937704 Fbxo25 F-box protein 25 gene DOID:630 genetic disease ISO RGD:1603223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050685 small cell carcinoma susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP:exon:609C>T (human) PMID:11679176|REF_RGD_ID:5135003 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050855 renal fibrosis treatment ISO RGD:10473 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:23056222|REF_RGD_ID:11035221 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050908 myelodysplastic syndrome no_association ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:609C>T (p.P187S) (human) PMID:23643325|REF_RGD_ID:10769356 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735868 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0070004 myeloid neoplasm ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:18829548|REF_RGD_ID:10769354 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0070355 overactive bladder syndrome treatment ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries PMID:28954467|REF_RGD_ID:13434913 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28932253|REF_RGD_ID:13434914 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:0080666 warfarin sensitivity ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27581200 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:10763 hypertension susceptibility ISO RGD:735868 D RGD:9068941 20230928 RGD DNA:SNP,haplotype:: p.P187S (rs1800566) (human) PMID:25529925|REF_RGD_ID:401827819 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:10763 hypertension treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21502369|REF_RGD_ID:11035215 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28711658|REF_RGD_ID:13439719 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:11054 urinary bladder cancer ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:11054 urinary bladder cancer treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21213404|REF_RGD_ID:10401939 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:11832 visual epilepsy ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased activity:brain PMID:14991562|REF_RGD_ID:5133254 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1240 leukemia ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, post-chemotherapy, susceptibility to PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1240 leukemia no_association ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP: :609C>T (human) PMID:15382274|REF_RGD_ID:10769351 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12588957 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1289 neurodegenerative disease treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28620296|REF_RGD_ID:13439721 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:13580 cholestasis ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:13580 cholestasis treatment ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:28337145|REF_RGD_ID:13439750 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:13580 cholestasis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28337145|REF_RGD_ID:13439750 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:14330 Parkinson's disease ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17188257 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8375015 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:14654 prostatitis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28844677|REF_RGD_ID:13434918 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1596 depressive disorder treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28763303|REF_RGD_ID:13439713 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1612 breast cancer ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, post-chemotherapy poor survival in PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:1824 status epilepticus treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28386312|REF_RGD_ID:13439740 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:219 colon cancer ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:19424637|REF_RGD_ID:5133247 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:28552673|REF_RGD_ID:13439727 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:224 transient cerebral ischemia ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:28169530|REF_RGD_ID:13442499 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:29017857|REF_RGD_ID:13439718 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:2615 papilloma ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9496914 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:2773 contact dermatitis ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:2841 asthma ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20049212 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:2841 asthma ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP:exon:c. 609C>T (human) PMID:19027876|REF_RGD_ID:5135006 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:2841 asthma susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.609C>T (human) PMID:19591959|REF_RGD_ID:5135005 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3021 acute kidney failure ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26723870 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3021 acute kidney failure treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28230744|REF_RGD_ID:13440091 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735868 D RGD:9068941 20200609 RGD protein, mRNA:decreased expression:lung PMID:18556627|REF_RGD_ID:5134980 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphisms: :465C>T, 609C>T (human) PMID:19705749|REF_RGD_ID:5133267 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:28790194|REF_RGD_ID:13439712 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28790194|REF_RGD_ID:13439712 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21120604|REF_RGD_ID:5133239 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:25069640|REF_RGD_ID:11035212 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3602 toxic encephalopathy ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20849151 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3905 lung carcinoma ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21479364|PMID:9865924 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: 609 C>T (human) PMID:19596483|REF_RGD_ID:5133268 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:21479364|REF_RGD_ID:5133265 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:3996 urinary system cancer ISO RGD:735868 D RGD:9068941 20200609 RGD Urothelial neoplasms; DNA:SNP:CDS:nucleotide 609 C/T or T/T genotype, risk increases with history of smoking and/or if combined with SULT1A1 codon 213, G/G genotype PMID:17619904|REF_RGD_ID:2301044 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:409 liver disease ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16610002|PMID:17405841 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:4195 hyperglycemia ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23458895 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:4448 macular degeneration ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:c.609C>T (rs1800566) (human) PMID:23276910|REF_RGD_ID:7771558 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:29078262|REF_RGD_ID:13442479 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:5199 ureteral obstruction ISO RGD:2503 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20734248|REF_RGD_ID:5133246 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:557 kidney disease ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21613233 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:735868 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:784 chronic kidney disease treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:22227174|REF_RGD_ID:10769366 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:850 lung disease susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD acute lung injuries;DNA:SNP: :rs689455 (human) PMID:19017358|REF_RGD_ID:5134962 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP: :609C>T (human) PMID:16235982|REF_RGD_ID:10769357 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:8692 myeloid leukemia ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11882782 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:28881715|REF_RGD_ID:13434916 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:24747453|REF_RGD_ID:10412730 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000046 Poisoning ISO RGD:735868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benzene toxicity, susceptibility to PMID:10393869|PMID:10393963|PMID:1737339|PMID:18511948|PMID:21964527|PMID:6933553|PMID:9000600|PMID:9230185|PMID:9328142|PMID:9593466|PMID:9855009 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000310 Lung Injury ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:lung (rat) PMID:27888691|REF_RGD_ID:13442477 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2503 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:21259333|REF_RGD_ID:5133235 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000998 Brain Injuries ISO RGD:2503 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18787991|REF_RGD_ID:5134971 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage PMID:20864352|REF_RGD_ID:11035222 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2503 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:27867096|REF_RGD_ID:13442478 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21457706|REF_RGD_ID:11035226 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21034357|PMID:9496914 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507624 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:16905546|REF_RGD_ID:11073695 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:29050310|REF_RGD_ID:13442476 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9003273 Chromosome 8, Trisomy ISO RGD:735868 D RGD:9068941 20200609 RGD associated with Myeloproliferative Disorders;DNA:missense mutation:cds:609C>T (human) PMID:23643325|REF_RGD_ID:10769356 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9003709 Mercury Poisoning treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28498799|REF_RGD_ID:13439738 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:1551869 D RGD:9068941 20200609 RGD PMID:16678022|REF_RGD_ID:10769360 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:24669282|PMID:28065220|REF_RGD_ID:11035223|REF_RGD_ID:13442501 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:2503 D RGD:9068941 20200609 RGD associated with Hypertension PMID:22990325|REF_RGD_ID:11035227 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9004786 Carbon Tetrachloride Poisoning treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:23684718|REF_RGD_ID:11035220 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP: :609C>T (human) PMID:12018106|REF_RGD_ID:10769350 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphism: : 609C>T (human) PMID:15781212|REF_RGD_ID:5134987 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:polymorphism:cds: PMID:18798003|REF_RGD_ID:5134963 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005463 Occupational Diseases ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15576619|PMID:15727169|PMID:17178637|PMID:9230185 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23458895 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9005729 Chronic Experimental Pancreatitis treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:22359633|REF_RGD_ID:11035224 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21545725|REF_RGD_ID:11035217 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21781312|REF_RGD_ID:6771212 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10473 D RGD:9068941 20200609 RGD PMID:28472605|PMID:29091898|REF_RGD_ID:13439739|REF_RGD_ID:15090820 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28522909|PMID:29091898|REF_RGD_ID:13439737|REF_RGD_ID:15090820 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007480 Hyperoxia ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:21551015|REF_RGD_ID:11035211 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28382390|REF_RGD_ID:13440093 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008217 Hemorrhage ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27581200 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20593958 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008914 Lead Poisoning treatment ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:28178683|REF_RGD_ID:13440092 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18511948 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:SNP: :609C>T (human) PMID:19456854|REF_RGD_ID:10769358 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:916 liver benign neoplasm ISO RGD:2503 D RGD:9068941 20200609 RGD PMID:24418717|REF_RGD_ID:11035219 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9452 steatotic liver disease ISO RGD:2503 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:17721935|REF_RGD_ID:5133249 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9538 multiple myeloma ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16949155 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9538 multiple myeloma ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P187S (human) PMID:18156703|REF_RGD_ID:10769348 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9538 multiple myeloma no_association ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P187S (609C>T) (human) PMID:18061666|REF_RGD_ID:10755419 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9675 pulmonary emphysema ISO RGD:735868 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:18559366|REF_RGD_ID:5134973 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11774269|PMID:17332311 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human) PMID:11774269|REF_RGD_ID:10769359 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735868 D RGD:9068941 20200609 RGD DNA:mutation: :609C>T (human) PMID:18444911|REF_RGD_ID:10769347 8937728 Nqo1 NAD(P)H quinone dehydrogenase 1 gene DOID:9970 obesity ISO RGD:735868 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17405841 8937744 Jakmip3 Janus kinase and microtubule interacting protein 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1316212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8937744 Jakmip3 Janus kinase and microtubule interacting protein 3 gene DOID:630 genetic disease ISO RGD:1316212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937771 Cuzd1 CUB and zona pellucida like domains 1 gene DOID:2340 craniosynostosis ISO RGD:1353922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 8937771 Cuzd1 CUB and zona pellucida like domains 1 gene DOID:630 genetic disease ISO RGD:1353922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937783 Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8937783 Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1346004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 8937783 Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1346004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8937783 Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:1826 epilepsy ISO RGD:1346004 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8937783 Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 gene DOID:630 genetic disease ISO RGD:1346004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937832 Kbtbd7 kelch repeat and BTB domain containing 7 gene DOID:13501 Moebius syndrome ISO RGD:1312909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 8937832 Kbtbd7 kelch repeat and BTB domain containing 7 gene DOID:630 genetic disease ISO RGD:1312909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937841 Ints11 integrator complex subunit 11 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8937841 Ints11 integrator complex subunit 11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603031 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8937841 Ints11 integrator complex subunit 11 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8937841 Ints11 integrator complex subunit 11 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8937841 Ints11 integrator complex subunit 11 gene DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities ISO RGD:1603031 D RGD:7240710 20230719 OMIM 8937841 Ints11 integrator complex subunit 11 gene DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities ISO RGD:1603031 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities PMID:37054711 8937841 Ints11 integrator complex subunit 11 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8937841 Ints11 integrator complex subunit 11 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8937841 Ints11 integrator complex subunit 11 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8937841 Ints11 integrator complex subunit 11 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8937841 Ints11 integrator complex subunit 11 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8937841 Ints11 integrator complex subunit 11 gene DOID:630 genetic disease ISO RGD:1603031 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937841 Ints11 integrator complex subunit 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8937841 Ints11 integrator complex subunit 11 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8937841 Ints11 integrator complex subunit 11 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8937873 Tmem14a transmembrane protein 14A gene DOID:630 genetic disease ISO RGD:1317058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937886 Adamts12 ADAM metallopeptidase with thrombospondin type 1 motif 12 gene DOID:630 genetic disease ISO RGD:1316449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937886 Adamts12 ADAM metallopeptidase with thrombospondin type 1 motif 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8937886 Adamts12 ADAM metallopeptidase with thrombospondin type 1 motif 12 gene DOID:9007096 Stroke susceptibility ISO RGD:1316449 D RGD:9068941 20200609 RGD DNA:SNP::rs1364044(human) PMID:22990015|REF_RGD_ID:9681739 8937933 Cwf19l2 CWF19 like cell cycle control factor 2 gene DOID:1059 intellectual disability ISO RGD:1320784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8937933 Cwf19l2 CWF19 like cell cycle control factor 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1320784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8937933 Cwf19l2 CWF19 like cell cycle control factor 2 gene DOID:630 genetic disease ISO RGD:1320784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937933 Cwf19l2 CWF19 like cell cycle control factor 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8937963 Tectb tectorin beta gene DOID:630 genetic disease ISO RGD:1314106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937977 Adgra1 adhesion G protein-coupled receptor A1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1317902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8937977 Adgra1 adhesion G protein-coupled receptor A1 gene DOID:630 genetic disease ISO RGD:1317902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937997 Hoxc6 homeobox C6 gene DOID:630 genetic disease ISO RGD:1348360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8937997 Hoxc6 homeobox C6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8938013 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:0040090 autoimmune gastritis ISO RGD:10213 D RGD:9068941 20200609 RGD PMID:8393475|REF_RGD_ID:14696740 8938013 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:0040090 autoimmune gastritis ISO RGD:737185 D RGD:9068941 20200609 RGD PMID:7517707|REF_RGD_ID:14696746 8938013 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:10534 stomach cancer ISO RGD:737185 D RGD:9068941 20200609 RGD DNA:hypermethylation:exon, stomach, plasma PMID:23317218|REF_RGD_ID:14696738 8938013 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:11476 osteoporosis treatment ISO RGD:10213 D RGD:9068941 20200609 RGD PMID:26869358|REF_RGD_ID:14696735 8938013 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:2222 factor X deficiency ISO RGD:737185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8938013 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:630 genetic disease ISO RGD:737185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938013 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:8757 gastric mucosal hypertrophy ISO RGD:10213 D RGD:9068941 20200609 RGD PMID:20476858|REF_RGD_ID:14696744 8938013 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:8929 atrophic gastritis ISO RGD:737185 D RGD:9068941 20200609 RGD PMID:30539573|REF_RGD_ID:14696739 8938013 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2178 D RGD:9068941 20200609 RGD PMID:20237950|REF_RGD_ID:14696743 8938013 Atp4b ATPase H+/K+ transporting subunit beta gene DOID:9970 obesity treatment ISO RGD:2178 D RGD:9068941 20200609 RGD PMID:25822172|REF_RGD_ID:14696745 8938024 Lcn10 lipocalin 10 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8938024 Lcn10 lipocalin 10 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1347368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8938024 Lcn10 lipocalin 10 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1347368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8938024 Lcn10 lipocalin 10 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8938024 Lcn10 lipocalin 10 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1347368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8938024 Lcn10 lipocalin 10 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8938024 Lcn10 lipocalin 10 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1347368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8938024 Lcn10 lipocalin 10 gene DOID:0081097 Rafiq syndrome ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8938024 Lcn10 lipocalin 10 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1347368 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8938024 Lcn10 lipocalin 10 gene DOID:3652 Leigh disease ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8938024 Lcn10 lipocalin 10 gene DOID:630 genetic disease ISO RGD:1347368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938024 Lcn10 lipocalin 10 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1347368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8938049 Nyx nyctalopin gene DOID:0050534 congenital stationary night blindness ISO RGD:1350886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness | ClinVar Annotator: match by term: X-linked congenital stationary night blindness PMID:25307992|PMID:28492532|PMID:31456290 8938049 Nyx nyctalopin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8938049 Nyx nyctalopin gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1350886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 8938049 Nyx nyctalopin gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1350886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 8938049 Nyx nyctalopin gene DOID:0110870 congenital stationary night blindness 1A ISO RGD:1350886 D RGD:7240710 20180130 OMIM 8938049 Nyx nyctalopin gene DOID:0110870 congenital stationary night blindness 1A ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1A | ClinVar Annotator: match by term: NYX-related condition PMID:11062471|PMID:11062472|PMID:16670814|PMID:17392683|PMID:19578023|PMID:23406521|PMID:25741868|PMID:28492532 8938049 Nyx nyctalopin gene DOID:10584 retinitis pigmentosa ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868 8938049 Nyx nyctalopin gene DOID:12849 autistic disorder ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8938049 Nyx nyctalopin gene DOID:630 genetic disease ISO RGD:1350886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8938049 Nyx nyctalopin gene DOID:8499 night blindness ISO RGD:1350886 D RGD:7240710 20240214 OMIM 8938049 Nyx nyctalopin gene DOID:8499 night blindness susceptibility ISO RGD:1350886 D RGD:9068941 20200609 RGD Congenital stationary night blindness type1A, OMIM:310500;DNA:mutations PMID:11062471|REF_RGD_ID:1601021 8938049 Nyx nyctalopin gene DOID:8501 fundus dystrophy ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11062471|PMID:19578023|PMID:25741868|PMID:28492532 8938049 Nyx nyctalopin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8938049 Nyx nyctalopin gene DOID:9008296 Eye Abnormalities ISO RGD:1350886 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 8938054 Mlec malectin gene DOID:630 genetic disease ISO RGD:1354476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938063 Txlng taxilin gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8938063 Txlng taxilin gamma gene DOID:12849 autistic disorder ISO RGD:1347306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8938063 Txlng taxilin gamma gene DOID:630 genetic disease ISO RGD:1347306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938063 Txlng taxilin gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8938081 Slc22a12 solute carrier family 22 member 12 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8938081 Slc22a12 solute carrier family 22 member 12 gene DOID:1059 intellectual disability ISO RGD:1323543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8938081 Slc22a12 solute carrier family 22 member 12 gene DOID:3021 acute kidney failure ISO RGD:1323543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14655203 8938081 Slc22a12 solute carrier family 22 member 12 gene DOID:3070 high grade glioma ISO RGD:1323543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8938081 Slc22a12 solute carrier family 22 member 12 gene DOID:630 genetic disease ISO RGD:1323543 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21148271|PMID:25741868|PMID:28492532|PMID:30920107 8938081 Slc22a12 solute carrier family 22 member 12 gene DOID:9005835 Congenital Abnormalities ISO RGD:1323543 D RGD:9068941 20200609 RGD Mutatons cause hypouricemia, a deficiency of uric acid in the blood. PMID:12024214|PMID:15634722|REF_RGD_ID:1599244|REF_RGD_ID:1599245 8938081 Slc22a12 solute carrier family 22 member 12 gene DOID:9007605 Renal Hypouricemia ISO RGD:1323543 D RGD:7240710 20180130 OMIM 8938081 Slc22a12 solute carrier family 22 member 12 gene DOID:9007605 Renal Hypouricemia ISO RGD:1323543 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dalmatian hypouricemia | ClinVar Annotator: match by term: Renal hypouricemia PMID:12024214|PMID:14655203|PMID:14694169|PMID:15054642|PMID:15327384|PMID:15634722|PMID:15741204|PMID:15912381|PMID:16199547|PMID:16385546|PMID:16703794|PMID:17103332|PMID:17362586|PMID:18492088|PMID:18760270|PMID:19019168|PMID:19092327|PMID:21148271|PMID:21211204|PMID:21366895|PMID:21614936|PMID:22045201|PMID:22194875|PMID:22257548|PMID:23043931|PMID:23386035|PMID:23525542|PMID:23652934|PMID:24033266|PMID:24827988|PMID:25264011|PMID:25658588|PMID:25741868|PMID:26500098|PMID:26603249|PMID:28492532|PMID:29486147|PMID:29659532|PMID:30097038|PMID:30315176|PMID:31131560|PMID:31591475|PMID:32271837|PMID:33821957 8938081 Slc22a12 solute carrier family 22 member 12 gene DOID:9007733 Familial Renal Hypouricemia due to Tubular Hypersecretion ISO RGD:1323543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial renal hypouricemia PMID:14694169|PMID:15327384|PMID:15741204|PMID:15912381|PMID:16703794|PMID:17362586|PMID:18492088|PMID:19019168|PMID:22045201|PMID:22194875|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29659532|PMID:30097038|PMID:33821957 8938081 Slc22a12 solute carrier family 22 member 12 gene DOID:9351 diabetes mellitus ISO RGD:621628 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:28679589|REF_RGD_ID:13439745 8938103 Zranb3 zinc finger RANBP2-type containing 3 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1349256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 8938103 Zranb3 zinc finger RANBP2-type containing 3 gene DOID:630 genetic disease ISO RGD:1349256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938127 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:0050570 congenital disorder of glycosylation type I ISO RGD:1317039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type I PMID:11733564|PMID:28492532 8938127 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1317039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8938127 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1317039 D RGD:7240710 20180130 OMIM 8938127 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:0080558 congenital disorder of glycosylation If ISO RGD:1317039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1F PMID:11733556|PMID:11733564|PMID:16199547|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:28940310 8938127 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:0080600 COVID-19 ISO RGD:1317039 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8938127 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1317039 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8938127 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1317039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8938127 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1317039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8938127 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1317039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8938127 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1317039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 8938127 Mpdu1 mannose-P-dolichol utilization defect 1 gene DOID:630 genetic disease ISO RGD:1317039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 8938143 Man2b2 mannosidase alpha class 2B member 2 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1318845 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:31775018 8938143 Man2b2 mannosidase alpha class 2B member 2 gene DOID:630 genetic disease ISO RGD:1318845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938172 Sugp1 SURP and G-patch domain containing 1 gene DOID:630 genetic disease ISO RGD:1321429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938194 Nr2e1 nuclear receptor subfamily 2 group E member 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1346337 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8938194 Nr2e1 nuclear receptor subfamily 2 group E member 1 gene DOID:630 genetic disease ISO RGD:1346337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938207 Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 gene DOID:11612 polycystic ovary syndrome ISO RGD:2837 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovarian cortex (rat) PMID:25887459|REF_RGD_ID:10402205 8938207 Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 gene DOID:1540 parathyroid carcinoma ISO RGD:735953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8938207 Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 gene DOID:630 genetic disease ISO RGD:735953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938207 Hsd17b7 hydroxysteroid 17-beta dehydrogenase 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8938233 Asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:630 genetic disease ISO RGD:1346642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938233 Asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346642 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8938233 Asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:9256 colorectal cancer ISO RGD:1618153 D RGD:9068941 20220811 RGD PMID:28502111|REF_RGD_ID:153305906 8938233 Asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1346642 D RGD:9068941 20220811 RGD mRNA, protein:increased expression:colon (human) PMID:28502111|REF_RGD_ID:153305906 8938267 Zmiz2 zinc finger MIZ-type containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8938267 Zmiz2 zinc finger MIZ-type containing 2 gene DOID:630 genetic disease ISO RGD:1605930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938267 Zmiz2 zinc finger MIZ-type containing 2 gene DOID:9006030 Infant Death ISO RGD:1605930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Death in infancy 8938311 Usp11 ubiquitin specific peptidase 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8938311 Usp11 ubiquitin specific peptidase 11 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8938311 Usp11 ubiquitin specific peptidase 11 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8938311 Usp11 ubiquitin specific peptidase 11 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8938311 Usp11 ubiquitin specific peptidase 11 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 8938311 Usp11 ubiquitin specific peptidase 11 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8938311 Usp11 ubiquitin specific peptidase 11 gene DOID:12849 autistic disorder ISO RGD:1347156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 PMID:21681106|PMID:30208311 8938311 Usp11 ubiquitin specific peptidase 11 gene DOID:630 genetic disease ISO RGD:1347156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938311 Usp11 ubiquitin specific peptidase 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8938311 Usp11 ubiquitin specific peptidase 11 gene DOID:9563 bronchiectasis ISO RGD:1347156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis 8938363 Vax1 ventral anterior homeobox 1 gene DOID:0111804 syndromic microphthalmia 11 ISO RGD:1351722 D RGD:7240710 20180130 OMIM 8938363 Vax1 ventral anterior homeobox 1 gene DOID:0111804 syndromic microphthalmia 11 ISO RGD:1351722 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 11 PMID:22095910|PMID:25741868|PMID:28492532 8938363 Vax1 ventral anterior homeobox 1 gene DOID:10629 microphthalmia ISO RGD:1351722 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 8938363 Vax1 ventral anterior homeobox 1 gene DOID:630 genetic disease ISO RGD:1351722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938375 Rnf40 ring finger protein 40 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:732458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8938375 Rnf40 ring finger protein 40 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:732458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 8938375 Rnf40 ring finger protein 40 gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:628638 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:21734099|REF_RGD_ID:9587431 8938375 Rnf40 ring finger protein 40 gene DOID:630 genetic disease ISO RGD:732458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938401 Emcn endomucin gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1602001 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 8938401 Emcn endomucin gene DOID:630 genetic disease ISO RGD:1602001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938427 Pfkp phosphofructokinase, platelet gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8938427 Pfkp phosphofructokinase, platelet gene DOID:5419 schizophrenia ISO RGD:731015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8938427 Pfkp phosphofructokinase, platelet gene DOID:630 genetic disease ISO RGD:731015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938427 Pfkp phosphofructokinase, platelet gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8938454 Gpr135 G protein-coupled receptor 135 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736248 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28722770 8938454 Gpr135 G protein-coupled receptor 135 gene DOID:630 genetic disease ISO RGD:736248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938460 Tigd5 tigger transposable element derived 5 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1323107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8938460 Tigd5 tigger transposable element derived 5 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1323107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8938460 Tigd5 tigger transposable element derived 5 gene DOID:4621 holoprosencephaly ISO RGD:1323107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8938460 Tigd5 tigger transposable element derived 5 gene DOID:630 genetic disease ISO RGD:1323107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938464 Glmn glomulin, FKBP associated protein gene DOID:11294 arteriovenous malformation ISO RGD:1315584 D RGD:9068941 20200609 RGD glomuvenous malformations PMID:11845407|REF_RGD_ID:1598992 8938464 Glmn glomulin, FKBP associated protein gene DOID:2431 glomus tumor ISO RGD:1315584 D RGD:9068941 20200609 RGD glomuvenous malformations PMID:11845407|REF_RGD_ID:1598992 8938464 Glmn glomulin, FKBP associated protein gene DOID:2436 glomangioma ISO RGD:1315584 D RGD:7240710 20190315 OMIM 8938464 Glmn glomulin, FKBP associated protein gene DOID:2436 glomangioma ISO RGD:1315584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations PMID:11175297|PMID:11845407|PMID:15689436|PMID:23375657|PMID:23801931|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28655553 8938464 Glmn glomulin, FKBP associated protein gene DOID:630 genetic disease ISO RGD:1315584 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8938464 Glmn glomulin, FKBP associated protein gene DOID:7996 familial glomangioma ISO RGD:1315584 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial glomangioma PMID:11845407|PMID:15689436|PMID:23801931|PMID:24033266|PMID:25741868|PMID:28492532 8938464 Glmn glomulin, FKBP associated protein gene DOID:9002428 Blue Rubber Bleb Nevus Syndrome ISO RGD:1315584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blue rubber bleb nevus 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:0050328 congenital hypothyroidism ISO RGD:732605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:0070123 congenital nongoitrous hypothyroidism 4 ISO RGD:732605 D RGD:7240710 20180130 OMIM 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:0070123 congenital nongoitrous hypothyroidism 4 ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary cretinism PMID:11297590|PMID:11549695|PMID:11788671|PMID:12364478|PMID:15292359|PMID:15297803|PMID:1971148|PMID:22606512|PMID:24423284|PMID:25741868|PMID:25950606|PMID:26416826|PMID:27362444|PMID:27387040|PMID:2792087|PMID:28492532|PMID:31166470|PMID:8636437|PMID:9589689 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:0080690 RASopathy ISO RGD:732605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:732605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:12361 Graves' disease ISO RGD:732605 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:1459 hypothyroidism ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: TSH deficiency PMID:11297590|PMID:11549695|PMID:11788671|PMID:12364478|PMID:15292359|PMID:15297803|PMID:1971148|PMID:22606512|PMID:24423284|PMID:25741868|PMID:25950606|PMID:26416826|PMID:27362444|PMID:27387040|PMID:2792087|PMID:28492532|PMID:31166470|PMID:8636437|PMID:9589689 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:732605 D RGD:9068941 20200609 RGD protein:decreased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:3312 bipolar disorder ISO RGD:732605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6455462 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:4195 hyperglycemia ISO RGD:732605 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7956715|REF_RGD_ID:1624160 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:630 genetic disease ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:9000366 Isolated Thyrotropin Deficiency ISO RGD:732605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thyrotropin deficiency, isolated PMID:11297590|PMID:11549695|PMID:11788671|PMID:12364478|PMID:15292359|PMID:15297803|PMID:1971148|PMID:22606512|PMID:24423284|PMID:25741868|PMID:25950606|PMID:26416826|PMID:27362444|PMID:27387040|PMID:2792087|PMID:28492532|PMID:31166470|PMID:8636437|PMID:9589689 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:9002395 Hypothermia ISO RGD:732605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8938501 Tshb thyroid stimulating hormone subunit beta gene DOID:9006462 Coma ISO RGD:732605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24729111 8938512 Cdsn corneodesmosin gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8938512 Cdsn corneodesmosin gene DOID:0060283 peeling skin syndrome ISO RGD:1353195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8938512 Cdsn corneodesmosin gene DOID:0070520 peeling skin syndrome 1 ISO RGD:1353195 D RGD:7240710 20180606 OMIM 8938512 Cdsn corneodesmosin gene DOID:0070520 peeling skin syndrome 1 ISO RGD:1353195 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 1 PMID:20691404|PMID:21191406|PMID:22146835|PMID:23957618|PMID:2434123|PMID:25741868|PMID:28492532|PMID:31690835 8938512 Cdsn corneodesmosin gene DOID:0110699 hypotrichosis 2 ISO RGD:1353195 D RGD:7240710 20180130 OMIM 8938512 Cdsn corneodesmosin gene DOID:0110699 hypotrichosis 2 ISO RGD:1353195 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis 2 PMID:10793007|PMID:12754508|PMID:25741868|PMID:28492532|PMID:3652491 8938512 Cdsn corneodesmosin gene DOID:11372 megacolon ISO RGD:1353195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8938512 Cdsn corneodesmosin gene DOID:3310 atopic dermatitis ISO RGD:1353195 D RGD:9068941 20210226 RGD protein:decreased expression:skin of body (human) PMID:21211653|REF_RGD_ID:42721970 8938512 Cdsn corneodesmosin gene DOID:630 genetic disease ISO RGD:1353195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938512 Cdsn corneodesmosin gene DOID:987 alopecia ISO RGD:1353195 D RGD:9068941 20200609 RGD hypotrichosis simplex of the scalp, OMIM:146520 DNA:point_mutation:CDS:C643T or C598T -> amino acid Q215X or Q200X PMID:12754508|REF_RGD_ID:1599783 8938524 Eci1 enoyl-CoA delta isomerase 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1352961 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 8938524 Eci1 enoyl-CoA delta isomerase 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1352961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 8938524 Eci1 enoyl-CoA delta isomerase 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1352961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8938524 Eci1 enoyl-CoA delta isomerase 1 gene DOID:1826 epilepsy ISO RGD:1352961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8938524 Eci1 enoyl-CoA delta isomerase 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1352961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8938524 Eci1 enoyl-CoA delta isomerase 1 gene DOID:2871 endometrial carcinoma ISO RGD:1352961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8938524 Eci1 enoyl-CoA delta isomerase 1 gene DOID:630 genetic disease ISO RGD:1352961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938542 Ubtd1 ubiquitin domain containing 1 gene DOID:630 genetic disease ISO RGD:1317795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938549 Pdlim4 PDZ and LIM domain 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8938549 Pdlim4 PDZ and LIM domain 4 gene DOID:11476 osteoporosis ISO RGD:1353458 D RGD:9068941 20240215 CTD CTD Direct Evidence: marker/mechanism 8938549 Pdlim4 PDZ and LIM domain 4 gene DOID:11476 osteoporosis susceptibility ISO RGD:1353458 D RGD:7240710 20230505 OMIM 8938549 Pdlim4 PDZ and LIM domain 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1353458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8938549 Pdlim4 PDZ and LIM domain 4 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1353458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 8938549 Pdlim4 PDZ and LIM domain 4 gene DOID:630 genetic disease ISO RGD:1353458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938549 Pdlim4 PDZ and LIM domain 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8938549 Pdlim4 PDZ and LIM domain 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1353458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8938549 Pdlim4 PDZ and LIM domain 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8938564 Nup50 nucleoporin 50 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8938564 Nup50 nucleoporin 50 gene DOID:1059 intellectual disability ISO RGD:736309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8938564 Nup50 nucleoporin 50 gene DOID:630 genetic disease ISO RGD:736309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938572 Ak8 adenylate kinase 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8938572 Ak8 adenylate kinase 8 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350831 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 8938572 Ak8 adenylate kinase 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8938572 Ak8 adenylate kinase 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8938572 Ak8 adenylate kinase 8 gene DOID:10908 hydrocephalus ISO RGD:1332480 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8938572 Ak8 adenylate kinase 8 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8938572 Ak8 adenylate kinase 8 gene DOID:3652 Leigh disease ISO RGD:1350831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8938572 Ak8 adenylate kinase 8 gene DOID:630 genetic disease ISO RGD:1350831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938590 Sh3kbp1 SH3 domain containing kinase binding protein 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8938590 Sh3kbp1 SH3 domain containing kinase binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8938590 Sh3kbp1 SH3 domain containing kinase binding protein 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8938590 Sh3kbp1 SH3 domain containing kinase binding protein 1 gene DOID:0111042 glycogen storage disease IXA ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8938590 Sh3kbp1 SH3 domain containing kinase binding protein 1 gene DOID:0111999 immunodeficiency 61 ISO RGD:732890 D RGD:7240710 20190501 OMIM 8938590 Sh3kbp1 SH3 domain containing kinase binding protein 1 gene DOID:0111999 immunodeficiency 61 ISO RGD:732890 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 61 PMID:25741868|PMID:28492532|PMID:29636373 8938590 Sh3kbp1 SH3 domain containing kinase binding protein 1 gene DOID:12849 autistic disorder ISO RGD:732890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8938590 Sh3kbp1 SH3 domain containing kinase binding protein 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:732890 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8938590 Sh3kbp1 SH3 domain containing kinase binding protein 1 gene DOID:630 genetic disease ISO RGD:732890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8938590 Sh3kbp1 SH3 domain containing kinase binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8938590 Sh3kbp1 SH3 domain containing kinase binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8938628 Thsd7a thrombospondin type 1 domain containing 7A gene DOID:3312 bipolar disorder ISO RGD:1602056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8938628 Thsd7a thrombospondin type 1 domain containing 7A gene DOID:630 genetic disease ISO RGD:1602056 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8938658 Nup37 nucleoporin 37 gene DOID:630 genetic disease ISO RGD:1317159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938658 Nup37 nucleoporin 37 gene DOID:9009243 Primary Autosomal Recessive Microcephaly 24 ISO RGD:1317159 D RGD:7240710 20190315 OMIM 8938658 Nup37 nucleoporin 37 gene DOID:9009243 Primary Autosomal Recessive Microcephaly 24 ISO RGD:1317159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive PMID:25741868|PMID:30179222 8938677 Znf507 zinc finger protein 507 gene DOID:630 genetic disease ISO RGD:1315962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938702 Tnfaip8l1 TNF alpha induced protein 8 like 1 gene DOID:630 genetic disease ISO RGD:1603272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938708 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060019 coronin-1A deficiency ISO RGD:736670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8938708 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8938708 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:736670 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8938708 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:736670 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8938708 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:736670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8938708 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:736670 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8938708 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:736670 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8938708 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:12849 autistic disorder ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8938708 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:5419 schizophrenia ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8938708 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:630 genetic disease ISO RGD:736670 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938708 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8938708 Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:736670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8938752 Tssk4 testis specific serine kinase 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8938752 Tssk4 testis specific serine kinase 4 gene DOID:630 genetic disease ISO RGD:1345321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938752 Tssk4 testis specific serine kinase 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345321 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8938752 Tssk4 testis specific serine kinase 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345321 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8938768 Nkrf NFKB repressing factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8938768 Nkrf NFKB repressing factor gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1343355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8938768 Nkrf NFKB repressing factor gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1343355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8938768 Nkrf NFKB repressing factor gene DOID:12849 autistic disorder ISO RGD:1343355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8938768 Nkrf NFKB repressing factor gene DOID:630 genetic disease ISO RGD:1343355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938779 Elmo3 engulfment and cell motility 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1312348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8938779 Elmo3 engulfment and cell motility 3 gene DOID:630 genetic disease ISO RGD:1312348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938810 Ccpg1 cell cycle progression 1 gene DOID:0060833 Griscelli syndrome type 2 ISO RGD:1322623 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 2 PMID:28492532 8938810 Ccpg1 cell cycle progression 1 gene DOID:0112216 developmental and epileptic encephalopathy 80 ISO RGD:1322623 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 PMID:25741868|PMID:28492532|PMID:31256876 8938810 Ccpg1 cell cycle progression 1 gene DOID:2717 Bloom syndrome ISO RGD:1322623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8938810 Ccpg1 cell cycle progression 1 gene DOID:630 genetic disease ISO RGD:1322623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938810 Ccpg1 cell cycle progression 1 gene DOID:9256 colorectal cancer ISO RGD:1322623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8938823 Catsperb cation channel sperm associated auxiliary subunit beta gene DOID:0080054 achondrogenesis type IA ISO RGD:1345422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8938823 Catsperb cation channel sperm associated auxiliary subunit beta gene DOID:630 genetic disease ISO RGD:1345422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938852 Eef1akmt3 EEF1A lysine methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1604024 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938852 Eef1akmt3 EEF1A lysine methyltransferase 3 gene DOID:6846 familial melanoma ISO RGD:1604024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8938877 Diras2 DIRAS family GTPase 2 gene DOID:630 genetic disease ISO RGD:1313693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938883 Gprin2 G protein regulated inducer of neurite outgrowth 2 gene DOID:5419 schizophrenia ISO RGD:1318969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8938883 Gprin2 G protein regulated inducer of neurite outgrowth 2 gene DOID:630 genetic disease ISO RGD:1318969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938897 Ccr7 C-C motif chemokine receptor 7 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1347245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 8938897 Ccr7 C-C motif chemokine receptor 7 gene DOID:0080600 COVID-19 ISO RGD:1347245 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8938897 Ccr7 C-C motif chemokine receptor 7 gene DOID:12894 Sjogren's syndrome ISO RGD:1553451 D RGD:9068941 20220825 MouseDO OMIM:270150 8938897 Ccr7 C-C motif chemokine receptor 7 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1347245 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:12626344|REF_RGD_ID:5130912 8938897 Ccr7 C-C motif chemokine receptor 7 gene DOID:13564 aspergillosis ISO RGD:1553451 D RGD:9068941 20200609 RGD associated with Neutropenia PMID:19783686|REF_RGD_ID:5130908 8938897 Ccr7 C-C motif chemokine receptor 7 gene DOID:1824 status epilepticus ISO RGD:1347245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 8938897 Ccr7 C-C motif chemokine receptor 7 gene DOID:2841 asthma ISO RGD:1553451 D RGD:9068941 20200609 RGD protein:increased expression:lung, dendritic cell (mouse) PMID:19917684|REF_RGD_ID:8549811 8938897 Ccr7 C-C motif chemokine receptor 7 gene DOID:552 pneumonia ISO RGD:1347245 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:16394278|REF_RGD_ID:5130919 8938897 Ccr7 C-C motif chemokine receptor 7 gene DOID:630 genetic disease ISO RGD:1347245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938897 Ccr7 C-C motif chemokine receptor 7 gene DOID:874 bacterial pneumonia ISO RGD:1553451 D RGD:9068941 20200609 RGD PMID:20176793|REF_RGD_ID:5130918 8938897 Ccr7 C-C motif chemokine receptor 7 gene DOID:8778 Crohn's disease ISO RGD:1347245 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:731755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731755 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:0070297 primary microcephaly ISO RGD:731755 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:10677299|PMID:10995508|PMID:11078571|PMID:11175299|PMID:15521979|PMID:15670717|PMID:15805162|PMID:16497572|PMID:17965227|PMID:19390132|PMID:20301322|PMID:20556518|PMID:23293579|PMID:24033266|PMID:25741868|PMID:27415407|PMID:28166604|PMID:28250423|PMID:28492532|PMID:33223529|PMID:9634533|PMID:9653161 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:731755 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:1059 intellectual disability ISO RGD:731755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:10907 microcephaly ISO RGD:731755 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly PMID:10602371|PMID:10677299|PMID:10814720|PMID:10995508|PMID:11078571|PMID:11175299|PMID:15521979|PMID:15670717|PMID:15805162|PMID:15952211|PMID:16044199|PMID:16207203|PMID:16497572|PMID:16983147|PMID:17441222|PMID:17965227|PMID:18006960|PMID:19390132|PMID:20301322|PMID:20556518|PMID:21696385|PMID:23042628|PMID:23293579|PMID:24033266|PMID:25040602|PMID:25741868|PMID:27415407|PMID:28166604|PMID:28250423|PMID:28492532|PMID:33223529|PMID:9634533|PMID:9653161 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:12849 autistic disorder ISO RGD:731755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14659996 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:13241 Behcet's disease ISO RGD:731755 D RGD:9068941 20231130 RGD associated with uveitis; DNA:SNP:CDS:rs12785878 (human) PMID:24184224|REF_RGD_ID:401901083 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:731755 D RGD:7240710 20180130 OMIM 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:731755 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10405455|PMID:10602371|PMID:10677299|PMID:10710236|PMID:10748414|PMID:10807690|PMID:10814720|PMID:10896306|PMID:10995508|PMID:11001807|PMID:11078571|PMID:11111101|PMID:11161831|PMID:11175299|PMID:11186897|PMID:11241839|PMID:11298379|PMID:11427181|PMID:11453964|PMID:11471166|PMID:11562938|PMID:11745994|PMID:11767235|PMID:11857552|PMID:12070263|PMID:12270273|PMID:12794707|PMID:12818773|PMID:12914579|PMID:12949967|PMID:14556255|PMID:14981719|PMID:15013448|PMID:15286151|PMID:15464432|PMID:15521979|PMID:15670717|PMID:15776424|PMID:15805162|PMID:15877207|PMID:15896653|PMID:15952211|PMID:15954111|PMID:15979035|PMID:16044199|PMID:16181459|PMID:16199547|PMID:16207203|PMID:16392899|PMID:16435228|PMID:16497572|PMID:16761297|PMID:16906538|PMID:16983147|PMID:17237122|PMID:17441222|PMID:17497248|PMID:17576681|PMID:17965227|PMID:17974928|PMID:17994283|PMID:18006960|PMID:18076100|PMID:18249054|PMID:18285838|PMID:19365639|PMID:19390132|PMID:20014133|PMID:20052364|PMID:20104611|PMID:20301322|PMID:20556518|PMID:20635399|PMID:20694756|PMID:21696385|PMID:21706511|PMID:21777499|PMID:21990131|PMID:22211794|PMID:22226660|PMID:22382802|PMID:22391996|PMID:22438180|PMID:22929031|PMID:22975760|PMID:23042628|PMID:23293579|PMID:23603282|PMID:23790112|PMID:23918729|PMID:24033266|PMID:24500076|PMID:24813812|PMID:24824134|PMID:25040602|PMID:25108116|PMID:25307054|PMID:25405082|PMID:25533962|PMID:25734025|PMID:25741868|PMID:25807282|PMID:26350204|PMID:26467025|PMID:26539891|PMID:26887953|PMID:26969503|PMID:27401223|PMID:27415407|PMID:27513191|PMID:28166604|PMID:28250423|PMID:28349652|PMID:28397838|PMID:28492532|PMID:28503313|PMID:28972118|PMID:29300326|PMID:29368431|PMID:2945519|PMID:29455191|PMID:29907799|PMID:30586318|PMID:30925529|PMID:31088393|PMID:31130284|PMID:31178897|PMID:31395954|PMID:31840946|PMID:32055014|PMID:33204589|PMID:33223529|PMID:33270637|PMID:33578785|PMID:33890232|PMID:34168679|PMID:34958143|PMID:35305950|PMID:35795205|PMID:36600793|PMID:8259166|PMID:8737829|PMID:8989473|PMID:9024557|PMID:9536098|PMID:9634533|PMID:9653161|PMID:9683613|PMID:9714006|PMID:9714007 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:5082 liver cirrhosis ISO RGD:731755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:630 genetic disease ISO RGD:731755 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10405455|PMID:10677299|PMID:10807690|PMID:10814720|PMID:10896306|PMID:10995508|PMID:11078571|PMID:11111101|PMID:11161831|PMID:11175299|PMID:11186897|PMID:11241839|PMID:11298379|PMID:11427181|PMID:11471166|PMID:11562938|PMID:11745994|PMID:12070263|PMID:12270273|PMID:12794707|PMID:12818773|PMID:12914579|PMID:12949967|PMID:14556255|PMID:14981719|PMID:15013448|PMID:15286151|PMID:15464432|PMID:15521979|PMID:15670717|PMID:15776424|PMID:15805162|PMID:15877207|PMID:15896653|PMID:15952211|PMID:15954111|PMID:16044199|PMID:16181459|PMID:16207203|PMID:16392899|PMID:16497572|PMID:16761297|PMID:16906538|PMID:16983147|PMID:17237122|PMID:17441222|PMID:17497248|PMID:17576681|PMID:17965227|PMID:17974928|PMID:17994283|PMID:18076100|PMID:18249054|PMID:18285838|PMID:19365639|PMID:19390132|PMID:20014133|PMID:20052364|PMID:20104611|PMID:20301322|PMID:20556518|PMID:20635399|PMID:20694756|PMID:21777499|PMID:21990131|PMID:22211794|PMID:22226660|PMID:22382802|PMID:22391996|PMID:22438180|PMID:22929031|PMID:22975760|PMID:23042628|PMID:23293579|PMID:23603282|PMID:23918729|PMID:24033266|PMID:24500076|PMID:24813812|PMID:24824134|PMID:25040602|PMID:25108116|PMID:25307054|PMID:25405082|PMID:25734025|PMID:25741868|PMID:25807282|PMID:26350204|PMID:26467025|PMID:26969503|PMID:27401223|PMID:27415407|PMID:27513191|PMID:28166604|PMID:28250423|PMID:28349652|PMID:28492532|PMID:28503313|PMID:28972118|PMID:29300326|PMID:29368431|PMID:29455191|PMID:29907799|PMID:31130284|PMID:31178897|PMID:31395954|PMID:32055014|PMID:33204589|PMID:33223529|PMID:34168679|PMID:35305950|PMID:35795205|PMID:36600793|PMID:8259166|PMID:8737829|PMID:8989473|PMID:9024557|PMID:9536098|PMID:9634533|PMID:9653161|PMID:9683613|PMID:9714007 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:687 hepatoblastoma ISO RGD:731755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12270273|PMID:15670717|PMID:16207203|PMID:16392899|PMID:23042628|PMID:24813812|PMID:25741868|PMID:27401223|PMID:28250423|PMID:28492532|PMID:29300326 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:9002278 Metabolic Bone Diseases ISO RGD:731755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:9005603 Muscle Hypotonia ISO RGD:731756 D RGD:9068941 20200609 RGD PMID:11230174|REF_RGD_ID:734884 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:9006205 Animal Disease Models ISO RGD:731755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29698737 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:9006359 Vitamin D Deficiency ISO RGD:731755 D RGD:9068941 20231130 RGD DNA:SNP:CDS:rs12785878 (human) PMID:31814925|REF_RGD_ID:401901168 8938904 Dhcr7 7-dehydrocholesterol reductase gene DOID:9008086 Developmental Disabilities ISO RGD:731755 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10677299|PMID:10807690|PMID:10814720|PMID:10995508|PMID:11161831|PMID:11175299|PMID:11241839|PMID:11427181|PMID:11562938|PMID:12794707|PMID:15286151|PMID:15464432|PMID:15776424|PMID:15805162|PMID:15952211|PMID:16761297|PMID:16906538|PMID:17576681|PMID:17965227|PMID:18285838|PMID:19365639|PMID:20301322|PMID:20635399|PMID:21777499|PMID:22211794|PMID:22226660|PMID:22438180|PMID:22975760|PMID:23042628|PMID:23293579|PMID:23918729|PMID:24033266|PMID:24824134|PMID:25108116|PMID:25741868|PMID:25807282|PMID:26467025|PMID:28166604|PMID:28492532|PMID:29455191|PMID:32055014|PMID:33204589|PMID:35305950|PMID:8259166|PMID:8737829|PMID:9024557|PMID:9536098|PMID:9653161|PMID:9683613 8938923 Plscr5 phospholipid scramblase family member 5 gene DOID:630 genetic disease ISO RGD:1349492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938936 Agbl5 AGBL carboxypeptidase 5 gene DOID:0110361 retinitis pigmentosa 75 ISO RGD:1605057 D RGD:7240710 20190315 OMIM 8938936 Agbl5 AGBL carboxypeptidase 5 gene DOID:0110361 retinitis pigmentosa 75 ISO RGD:1605057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 75 PMID:25741868|PMID:26355662|PMID:26720455|PMID:28492532 8938936 Agbl5 AGBL carboxypeptidase 5 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1605057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8938936 Agbl5 AGBL carboxypeptidase 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1605057 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:31725702|PMID:34906470 8938936 Agbl5 AGBL carboxypeptidase 5 gene DOID:630 genetic disease ISO RGD:1605057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8938936 Agbl5 AGBL carboxypeptidase 5 gene DOID:8501 fundus dystrophy ISO RGD:1605057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 8938961 Immt inner membrane mitochondrial protein gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1321729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8938961 Immt inner membrane mitochondrial protein gene DOID:630 genetic disease ISO RGD:1321729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938961 Immt inner membrane mitochondrial protein gene DOID:8398 osteoarthritis ISO RGD:1321729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8938961 Immt inner membrane mitochondrial protein gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1321729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 8938961 Immt inner membrane mitochondrial protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8938995 Nox3 NADPH oxidase 3 gene DOID:630 genetic disease ISO RGD:1351952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8938995 Nox3 NADPH oxidase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8939010 Star steroidogenic acute regulatory protein gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:735413 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH PMID:10215405|PMID:10323391|PMID:10486704|PMID:10566637|PMID:10700722|PMID:11061515|PMID:11279152|PMID:11509019|PMID:12725533|PMID:12909641|PMID:14764819|PMID:15289763|PMID:15347444|PMID:15546900|PMID:15666846|PMID:15985476|PMID:16103714|PMID:16118340|PMID:16199547|PMID:16968793|PMID:17003020|PMID:17301050|PMID:18729825|PMID:19245813|PMID:19773404|PMID:20444910|PMID:21164258|PMID:21647419|PMID:21846663|PMID:22028173|PMID:22083155|PMID:22903695|PMID:23211570|PMID:23748066|PMID:23859637|PMID:23920000|PMID:24790358|PMID:24904850|PMID:24953586|PMID:25525159|PMID:25741868|PMID:25883920|PMID:26467025|PMID:26523528|PMID:26650942|PMID:26827627|PMID:27047663|PMID:28467518|PMID:28492532|PMID:28546232|PMID:28637490|PMID:29576868|PMID:30400872|PMID:30476142|PMID:31286101|PMID:31666050|PMID:32252217|PMID:32835366|PMID:33227378|PMID:34243750|PMID:34258490|PMID:7892608|PMID:8634702|PMID:8943003|PMID:8948562|PMID:9077535|PMID:9097960|PMID:9141542|PMID:9215316|PMID:9237999|PMID:9279522 8939010 Star steroidogenic acute regulatory protein gene DOID:0050811 congenital adrenal hyperplasia susceptibility ISO RGD:735413 D RGD:9068941 20200609 RGD DNA:transversion:intron:g.IVS4-11T>A (human) PMID:8634702|REF_RGD_ID:1600070 8939010 Star steroidogenic acute regulatory protein gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:735413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8939010 Star steroidogenic acute regulatory protein gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:735413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8939010 Star steroidogenic acute regulatory protein gene DOID:11612 polycystic ovary syndrome ISO RGD:3770 D RGD:9068941 20200609 RGD protein:increased expression:ovary (rat) PMID:19698287|REF_RGD_ID:4145934 8939010 Star steroidogenic acute regulatory protein gene DOID:11612 polycystic ovary syndrome ISO RGD:735413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21262361 8939010 Star steroidogenic acute regulatory protein gene DOID:1459 hypothyroidism ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:increased expression:corpus luteum (rat) PMID:17244746|REF_RGD_ID:4889527 8939010 Star steroidogenic acute regulatory protein gene DOID:1924 hypogonadism ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis (rat) PMID:17880366|REF_RGD_ID:4833436 8939010 Star steroidogenic acute regulatory protein gene DOID:2527 nephrosis ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:16574160|REF_RGD_ID:1599698 8939010 Star steroidogenic acute regulatory protein gene DOID:607 paraplegia ISO RGD:735413 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8939010 Star steroidogenic acute regulatory protein gene DOID:630 genetic disease ISO RGD:735413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8939010 Star steroidogenic acute regulatory protein gene DOID:9000972 Fever ISO RGD:3770 D RGD:9068941 20200609 RGD protein:decreased expression:testis (rat) PMID:20389168|REF_RGD_ID:4845252 8939010 Star steroidogenic acute regulatory protein gene DOID:9002231 Fetal Growth Retardation ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland, maternal (rat) PMID:17881205|REF_RGD_ID:4832477 8939010 Star steroidogenic acute regulatory protein gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735413 D RGD:7240710 20180130 OMIM 8939010 Star steroidogenic acute regulatory protein gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735413 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital lipoid adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism PMID:10215405|PMID:10323391|PMID:10486704|PMID:10566637|PMID:10700722|PMID:11061515|PMID:11279152|PMID:11509019|PMID:12725533|PMID:12909641|PMID:14764819|PMID:15289763|PMID:15347444|PMID:15546900|PMID:15666846|PMID:15985476|PMID:16103714|PMID:16118340|PMID:16199547|PMID:16968793|PMID:17003020|PMID:17301050|PMID:18729825|PMID:19245813|PMID:19773404|PMID:20444910|PMID:21164258|PMID:21647419|PMID:21846663|PMID:22028173|PMID:22083155|PMID:22903695|PMID:23211570|PMID:23748066|PMID:23859637|PMID:23920000|PMID:24790358|PMID:24904850|PMID:24953586|PMID:25525159|PMID:25741868|PMID:25883920|PMID:26467025|PMID:26523528|PMID:26650942|PMID:26827627|PMID:27047663|PMID:28467518|PMID:28492532|PMID:28546232|PMID:28637490|PMID:29576868|PMID:30400872|PMID:30476142|PMID:31286101|PMID:31666050|PMID:32252217|PMID:32835366|PMID:33227378|PMID:34243750|PMID:34258490|PMID:7892608|PMID:8634702|PMID:8943003|PMID:8948562|PMID:9077535|PMID:9097960|PMID:9141542|PMID:9215316|PMID:9237999|PMID:9279522 8939010 Star steroidogenic acute regulatory protein gene DOID:9003936 Cardiomegaly ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle tissue (rat) PMID:19349910|REF_RGD_ID:4145630 8939010 Star steroidogenic acute regulatory protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:decreased expression:sciatic nerve (rat) PMID:20826654|REF_RGD_ID:4145530 8939010 Star steroidogenic acute regulatory protein gene DOID:9007715 Endometrial Neoplasms ISO RGD:735413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 8939010 Star steroidogenic acute regulatory protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:3770 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis, Leydig cell (rat) PMID:18481435|REF_RGD_ID:4889107 8939030 Rnf128 ring finger protein 128 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8939030 Rnf128 ring finger protein 128 gene DOID:1227 neutropenia ISO RGD:1603197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25741868 8939030 Rnf128 ring finger protein 128 gene DOID:12849 autistic disorder ISO RGD:1603197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8939030 Rnf128 ring finger protein 128 gene DOID:630 genetic disease ISO RGD:1603197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939041 Zfp1 ZFP1 zinc finger protein gene DOID:2565 macular corneal dystrophy ISO RGD:1351790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 8939041 Zfp1 ZFP1 zinc finger protein gene DOID:607 paraplegia ISO RGD:1351790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8939041 Zfp1 ZFP1 zinc finger protein gene DOID:630 genetic disease ISO RGD:1351790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939052 Grip1 glutamate receptor interacting protein 1 gene DOID:0060642 recessive dystrophic epidermolysis bullosa ISO RGD:733446 D RGD:9068941 20220825 MouseDO OMIM:226600 8939052 Grip1 glutamate receptor interacting protein 1 gene DOID:0090001 Fraser syndrome ISO RGD:733446 D RGD:9068941 20220825 MouseDO OMIM:219000 8939052 Grip1 glutamate receptor interacting protein 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1345662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 8939052 Grip1 glutamate receptor interacting protein 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1345662 D RGD:7240710 20190315 OMIM 8939052 Grip1 glutamate receptor interacting protein 1 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1345662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:21383172|PMID:22510445|PMID:24033266|PMID:25741868|PMID:26539891|PMID:28492532 8939052 Grip1 glutamate receptor interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1345662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21383172|PMID:24033266|PMID:25741868|PMID:28492532 8939052 Grip1 glutamate receptor interacting protein 1 gene DOID:10907 microcephaly ISO RGD:1345662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8939052 Grip1 glutamate receptor interacting protein 1 gene DOID:11836 clubfoot ISO RGD:733446 D RGD:9068941 20220825 MouseDO OMIM:119800 8939052 Grip1 glutamate receptor interacting protein 1 gene DOID:630 genetic disease ISO RGD:1345662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8939103 Hhatl hedgehog acyltransferase like gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1344894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8939103 Hhatl hedgehog acyltransferase like gene DOID:630 genetic disease ISO RGD:1344894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939119 Itih3 inter-alpha-trypsin inhibitor heavy chain 3 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:732422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8939119 Itih3 inter-alpha-trypsin inhibitor heavy chain 3 gene DOID:630 genetic disease ISO RGD:732422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939119 Itih3 inter-alpha-trypsin inhibitor heavy chain 3 gene DOID:684 hepatocellular carcinoma ISO RGD:732422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 8939147 Mrpl42 mitochondrial ribosomal protein L42 gene DOID:630 genetic disease ISO RGD:1312629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939176 Mageb16 MAGE family member B16 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8939176 Mageb16 MAGE family member B16 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 8939176 Mageb16 MAGE family member B16 gene DOID:12849 autistic disorder ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8939176 Mageb16 MAGE family member B16 gene DOID:630 genetic disease ISO RGD:1353190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939176 Mageb16 MAGE family member B16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8939176 Mageb16 MAGE family member B16 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1353190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8939181 Fez2 fasciculation and elongation protein zeta 2 gene DOID:630 genetic disease ISO RGD:735511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939181 Fez2 fasciculation and elongation protein zeta 2 gene DOID:9004657 Weight Gain ISO RGD:735511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8939181 Fez2 fasciculation and elongation protein zeta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8939194 Isl1 ISL LIM homeobox 1 gene DOID:0060224 atrial fibrillation ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:mutation:cds:c.481G>T (human) PMID:32771629|REF_RGD_ID:243049245 8939194 Isl1 ISL LIM homeobox 1 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:736062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX | ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 8939194 Isl1 ISL LIM homeobox 1 gene DOID:11054 urinary bladder cancer ISO RGD:736062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 8939194 Isl1 ISL LIM homeobox 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:mutation:cds:c.631A>T(human) PMID:30536204|REF_RGD_ID:243049244 8939194 Isl1 ISL LIM homeobox 1 gene DOID:1459 hypothyroidism susceptibility ISO RGD:62250 D RGD:9068941 20230406 RGD PMID:26296153|REF_RGD_ID:11353031 8939194 Isl1 ISL LIM homeobox 1 gene DOID:1657 ventricular septal defect ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:polymorphisms: :rs3762977,IVS1+17C(human) PMID:23572340|REF_RGD_ID:243048461 8939194 Isl1 ISL LIM homeobox 1 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:SNP: :rs1017(human) PMID:24634231|REF_RGD_ID:243049248 8939194 Isl1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease ISO RGD:736062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 8939194 Isl1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease no_association ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:SNPs:3'UTR:(human) PMID:23229290|REF_RGD_ID:243049243 8939194 Isl1 ISL LIM homeobox 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:SNPs, haplotype:intron, 3'UTR:(human) PMID:20520780|REF_RGD_ID:243049242 8939194 Isl1 ISL LIM homeobox 1 gene DOID:1882 atrial heart septal defect susceptibility ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:SNP: :rs1017(human) PMID:24634231|REF_RGD_ID:243049248 8939194 Isl1 ISL LIM homeobox 1 gene DOID:5844 myocardial infarction ISO RGD:62250 D RGD:9068941 20230406 RGD PMID:22727192|REF_RGD_ID:243048464 8939194 Isl1 ISL LIM homeobox 1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:736062 D RGD:9068941 20230406 RGD PMID:29482621|REF_RGD_ID:243048463 8939194 Isl1 ISL LIM homeobox 1 gene DOID:630 genetic disease ISO RGD:736062 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8939194 Isl1 ISL LIM homeobox 1 gene DOID:6406 double outlet right ventricle ISO RGD:736062 D RGD:9068941 20230406 RGD DNA:mutation:cds:c.225C>G(human) PMID:31484864|REF_RGD_ID:243048467 8939194 Isl1 ISL LIM homeobox 1 gene DOID:769 neuroblastoma ISO RGD:736062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30127528 8939194 Isl1 ISL LIM homeobox 1 gene DOID:9003370 Dyslipidemias treatment ISO RGD:61957 D RGD:9068941 20230413 RGD PMID:32277945|REF_RGD_ID:243049251 8939194 Isl1 ISL LIM homeobox 1 gene DOID:9003370 Dyslipidemias treatment ISO RGD:62250 D RGD:9068941 20230413 RGD PMID:32277945|REF_RGD_ID:243049251 8939194 Isl1 ISL LIM homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8939194 Isl1 ISL LIM homeobox 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 8939194 Isl1 ISL LIM homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:61957 D RGD:9068941 20230413 RGD mRNA,protein:decreased expression:pancreas: PMID:30341898|REF_RGD_ID:243065124 8939194 Isl1 ISL LIM homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736062 D RGD:9068941 20200609 RGD associated with Obesity;DNA:SNP:promoter:g.-47A>G (human) PMID:11978668|REF_RGD_ID:2311117 8939194 Isl1 ISL LIM homeobox 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736062 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15161765|REF_RGD_ID:2311116 8939220 Ddb2 damage specific DNA binding protein 2 gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320906 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:24728327|PMID:25741868|PMID:26580448|PMID:28492532 8939220 Ddb2 damage specific DNA binding protein 2 gene DOID:0050427 xeroderma pigmentosum susceptibility ISO RGD:1320906 D RGD:9068941 20200609 RGD DNA:transitions: :p.K244E, p.R273H PMID:8798680|REF_RGD_ID:1601050 8939220 Ddb2 damage specific DNA binding protein 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1320906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8939220 Ddb2 damage specific DNA binding protein 2 gene DOID:0110846 xeroderma pigmentosum group E ISO RGD:1320906 D RGD:7240710 20180130 OMIM 8939220 Ddb2 damage specific DNA binding protein 2 gene DOID:0110846 xeroderma pigmentosum group E ISO RGD:1320906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group E PMID:10469312|PMID:10585395|PMID:12812979|PMID:21107348|PMID:24728327|PMID:25741868|PMID:28492532 8939220 Ddb2 damage specific DNA binding protein 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1320906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 8939220 Ddb2 damage specific DNA binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1320906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8939220 Ddb2 damage specific DNA binding protein 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8939220 Ddb2 damage specific DNA binding protein 2 gene DOID:2394 ovarian cancer ISO RGD:1320906 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8939220 Ddb2 damage specific DNA binding protein 2 gene DOID:630 genetic disease ISO RGD:1320906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8939234 Lin28b lin-28 homolog B gene DOID:14566 disease of cellular proliferation ISO RGD:1604919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 8939234 Lin28b lin-28 homolog B gene DOID:630 genetic disease ISO RGD:1604919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939234 Lin28b lin-28 homolog B gene DOID:769 neuroblastoma ISO RGD:1604919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941191|PMID:23042116 8939234 Lin28b lin-28 homolog B gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 8939243 Rbp4 retinol binding protein 4 gene DOID:0050912 colon adenoma ISO RGD:735251 D RGD:9068941 20230615 RGD protein:increased expression:blood serum (human) PMID:25712946|REF_RGD_ID:329849123 8939243 Rbp4 retinol binding protein 4 gene DOID:0060648 anterior segment dysgenesis ISO RGD:735251 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:25741868 8939243 Rbp4 retinol binding protein 4 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 8939243 Rbp4 retinol binding protein 4 gene DOID:10591 pre-eclampsia ISO RGD:735251 D RGD:9068941 20230601 RGD protein:decreased expression:umbilical cord,blood serum (human) PMID:21299359|REF_RGD_ID:329845866 8939243 Rbp4 retinol binding protein 4 gene DOID:10591 pre-eclampsia disease_progression ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:21173508|REF_RGD_ID:329845578 8939243 Rbp4 retinol binding protein 4 gene DOID:10629 microphthalmia ISO RGD:735251 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Bilateral microphthalmos | ClinVar Annotator: match by term: Microphthalmia | ClinVar Annotator: match by term: Unilateral microphthalmos PMID:25741868|PMID:25910211|PMID:29178648 8939243 Rbp4 retinol binding protein 4 gene DOID:10763 hypertension ameliorates ISO RGD:3546 D RGD:9068941 20230615 RGD PMID:21365528|REF_RGD_ID:329853304 8939243 Rbp4 retinol binding protein 4 gene DOID:10763 hypertension ameliorates ISO RGD:735252 D RGD:9068941 20230601 RGD PMID:25911613|REF_RGD_ID:329845871 8939243 Rbp4 retinol binding protein 4 gene DOID:10763 hypertension sexual_dimorphism ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:20798476|REF_RGD_ID:329845596 8939243 Rbp4 retinol binding protein 4 gene DOID:10825 essential hypertension ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood plasma (human) PMID:31865725|REF_RGD_ID:329845583 8939243 Rbp4 retinol binding protein 4 gene DOID:10825 essential hypertension disease_progression ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:19556974|REF_RGD_ID:329845861 8939243 Rbp4 retinol binding protein 4 gene DOID:11267 keratomalacia ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9888420 8939243 Rbp4 retinol binding protein 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17456573 8939243 Rbp4 retinol binding protein 4 gene DOID:11713 diabetic angiopathy disease_progression ISO RGD:735251 D RGD:9068941 20230615 RGD protein:increased expression:blood serum (human) PMID:33294897|REF_RGD_ID:329853310 8939243 Rbp4 retinol binding protein 4 gene DOID:11714 gestational diabetes ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:35876300|REF_RGD_ID:329845845 8939243 Rbp4 retinol binding protein 4 gene DOID:12270 coloboma ISO RGD:735251 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868|PMID:29178648 8939243 Rbp4 retinol binding protein 4 gene DOID:12930 dilated cardiomyopathy onset ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood plasma (human) PMID:19926600|REF_RGD_ID:329845592 8939243 Rbp4 retinol binding protein 4 gene DOID:13129 severe pre-eclampsia severity ISO RGD:735251 D RGD:9068941 20230601 RGD protein:decreased expression:blood serum (human) PMID:27279411|PMID:31949674|REF_RGD_ID:329845847|REF_RGD_ID:329845859 8939243 Rbp4 retinol binding protein 4 gene DOID:13129 severe pre-eclampsia severity ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:19573524|REF_RGD_ID:329845853 8939243 Rbp4 retinol binding protein 4 gene DOID:13207 proliferative diabetic retinopathy disease_progression ISO RGD:735251 D RGD:9068941 20230615 RGD protein:increased expression:blood serum (human) PMID:20233518|REF_RGD_ID:329853306 8939243 Rbp4 retinol binding protein 4 gene DOID:13810 familial hypercholesterolemia disease_progression ISO RGD:735251 D RGD:9068941 20230601 RGD associated with myocardial infarction; protein:decreased expression:blood serum (human) PMID:24720534|REF_RGD_ID:329845858 8939243 Rbp4 retinol binding protein 4 gene DOID:1936 atherosclerosis disease_progression ISO RGD:3546 D RGD:9068941 20230615 RGD associated with type 2 diabetes mellitus; mRNA,protein:increased expression:adipose tissue, blood serum (rat) PMID:33889291|REF_RGD_ID:329849122 8939243 Rbp4 retinol binding protein 4 gene DOID:1936 atherosclerosis exacerbates ISO RGD:735252 D RGD:9068941 20230608 RGD APOE knockout PMID:28122883|REF_RGD_ID:329845881 8939243 Rbp4 retinol binding protein 4 gene DOID:2018 hyperinsulinism onset ISO RGD:735251 D RGD:9068941 20230601 RGD associated with coronary artery disease;protein:increased expression:blood serum (human) PMID:25233041|REF_RGD_ID:329845593 8939243 Rbp4 retinol binding protein 4 gene DOID:305 carcinoma ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8939243 Rbp4 retinol binding protein 4 gene DOID:3121 gallbladder cancer disease_progression ISO RGD:735251 D RGD:9068941 20230615 RGD associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human) PMID:37273108|REF_RGD_ID:329849105 8939243 Rbp4 retinol binding protein 4 gene DOID:3393 coronary artery disease ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:epicardial fat (human) PMID:21645024|REF_RGD_ID:329845584 8939243 Rbp4 retinol binding protein 4 gene DOID:3393 coronary artery disease disease_progression ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:18854400|REF_RGD_ID:329845843 8939243 Rbp4 retinol binding protein 4 gene DOID:3393 coronary artery disease severity ISO RGD:735251 D RGD:9068941 20230601 RGD associated with hypothyroidism;protein:increased expression:blood serum (human) PMID:31278889|REF_RGD_ID:329845849 8939243 Rbp4 retinol binding protein 4 gene DOID:3393 coronary artery disease sexual_dimorphism ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood plasma (human) PMID:25437889|REF_RGD_ID:329845573 8939243 Rbp4 retinol binding protein 4 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735251 D RGD:9068941 20230615 RGD DNA:SNP:intron: (rs7094671) (human) PMID:25479076|REF_RGD_ID:329845882 8939243 Rbp4 retinol binding protein 4 gene DOID:3526 cerebral infarction ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood plasma (human) PMID:19846170|REF_RGD_ID:329845582 8939243 Rbp4 retinol binding protein 4 gene DOID:3526 cerebral infarction exacerbates ISO RGD:735251 D RGD:9068941 20230615 RGD protein:increased expression:blood serum (human) PMID:30030781|REF_RGD_ID:329853305 8939243 Rbp4 retinol binding protein 4 gene DOID:3526 cerebral infarction severity ISO RGD:735251 D RGD:9068941 20230601 RGD associated with diabetes mellitus; protein:increased expression:blood serum (human) PMID:30038059|REF_RGD_ID:329845588 8939243 Rbp4 retinol binding protein 4 gene DOID:418 systemic scleroderma disease_progression ISO RGD:735251 D RGD:9068941 20230601 RGD associated with Raynaud disease and interstitial lung disease; protein:decreased expression:blood serum (human) PMID:22211766|REF_RGD_ID:329845579 8939243 Rbp4 retinol binding protein 4 gene DOID:5082 liver cirrhosis severity ISO RGD:735251 D RGD:9068941 20230608 RGD associated with lived disease; protein:decreased expression:blood serum (human) PMID:17337499|REF_RGD_ID:329845879 8939243 Rbp4 retinol binding protein 4 gene DOID:520 aortic disease exacerbates ISO RGD:735252 D RGD:9068941 20230601 RGD PMID:25875385|REF_RGD_ID:329845857 8939243 Rbp4 retinol binding protein 4 gene DOID:557 kidney disease ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 8939243 Rbp4 retinol binding protein 4 gene DOID:559 acute pyelonephritis ISO RGD:735251 D RGD:9068941 20230615 RGD protein:decreased expression:blood plasma (human) PMID:20163326|REF_RGD_ID:329853301 8939243 Rbp4 retinol binding protein 4 gene DOID:5844 myocardial infarction ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:25142320|REF_RGD_ID:329845867 8939243 Rbp4 retinol binding protein 4 gene DOID:6000 congestive heart failure ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8939243 Rbp4 retinol binding protein 4 gene DOID:6000 congestive heart failure treatment ISO RGD:735251 D RGD:9068941 20230601 RGD PMID:22785609|REF_RGD_ID:329845590 8939243 Rbp4 retinol binding protein 4 gene DOID:630 genetic disease ISO RGD:735251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25910211|PMID:28492532 8939243 Rbp4 retinol binding protein 4 gene DOID:784 chronic kidney disease onset ISO RGD:735251 D RGD:9068941 20230615 RGD associated with type 2 diabetes mellitus; protein:increased expression:blood serum (human) PMID:21817822|REF_RGD_ID:329853323 8939243 Rbp4 retinol binding protein 4 gene DOID:8893 psoriasis ISO RGD:735251 D RGD:9068941 20230601 RGD protein:decreased expression:blood serum (human) PMID:22151390|REF_RGD_ID:329845865 8939243 Rbp4 retinol binding protein 4 gene DOID:8947 diabetic retinopathy severity ISO RGD:735251 D RGD:9068941 20230615 RGD protein:increased expression:blood plasma (human) PMID:30135138|REF_RGD_ID:329849110 8939243 Rbp4 retinol binding protein 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8939243 Rbp4 retinol binding protein 4 gene DOID:9000343 Vision Disorders ISO RGD:735251 D RGD:9068941 20200609 RGD retinol-binding protein deficiency;DNA:point mutation:exon:p.I41N, p.G75D (human) PMID:9888420|REF_RGD_ID:1601613 8939243 Rbp4 retinol binding protein 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8939243 Rbp4 retinol binding protein 4 gene DOID:9000528 Coronary Disease ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood plasma (human) PMID:23584360|REF_RGD_ID:329845574 8939243 Rbp4 retinol binding protein 4 gene DOID:9000564 Prehypertension ISO RGD:735251 D RGD:9068941 20230601 RGD associated with obesity; protein:increased expression:blood serum (human) PMID:28639612|REF_RGD_ID:329845595 8939243 Rbp4 retinol binding protein 4 gene DOID:9000743 Isolated Microphthalmia with Coloboma 10 ISO RGD:735251 D RGD:7240710 20180130 OMIM 8939243 Rbp4 retinol binding protein 4 gene DOID:9000743 Microphthalmia/Coloboma 10 ISO RGD:735251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 10 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 PMID:25741868|PMID:25910211 8939243 Rbp4 retinol binding protein 4 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762690 8939243 Rbp4 retinol binding protein 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3546 D RGD:9068941 20230608 RGD mRNA:increased expression:liver (rat) PMID:17337499|REF_RGD_ID:329845879 8939243 Rbp4 retinol binding protein 4 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:735251 D RGD:9068941 20230615 RGD protein:increased expression, decreased expression:blood serum, umbilical cord blood (human) PMID:19708176|REF_RGD_ID:329849109 8939243 Rbp4 retinol binding protein 4 gene DOID:9001686 Acute Coronary Syndrome onset ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:32449048|REF_RGD_ID:329845576 8939243 Rbp4 retinol binding protein 4 gene DOID:9001686 Acute Coronary Syndrome severity ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood plasma (human) PMID:25437889|REF_RGD_ID:329845573 8939243 Rbp4 retinol binding protein 4 gene DOID:9002049 Anophthalmia ISO RGD:735251 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Anophthalmia PMID:25741868|PMID:25910211 8939243 Rbp4 retinol binding protein 4 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:735251 D RGD:9068941 20230601 RGD associated with type 2 diabetes mellitus; protein:increased expression:blood plasma, urine (human) PMID:17568782|REF_RGD_ID:329845581 8939243 Rbp4 retinol binding protein 4 gene DOID:9002470 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome ISO RGD:735251 D RGD:7240710 20180130 OMIM 8939243 Rbp4 retinol binding protein 4 gene DOID:9002470 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome ISO RGD:735251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome PMID:10232633|PMID:16157297|PMID:23189188|PMID:25741868|PMID:25910211|PMID:28492532|PMID:9888420 8939243 Rbp4 retinol binding protein 4 gene DOID:9003281 Spontaneous Abortions ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8939243 Rbp4 retinol binding protein 4 gene DOID:9003370 Dyslipidemias disease_progression ISO RGD:735251 D RGD:9068941 20230615 RGD protein:increased expression:blood plasma (human) PMID:22426023|REF_RGD_ID:329853319 8939243 Rbp4 retinol binding protein 4 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:735252 D RGD:9068941 20230601 RGD PMID:25911613|REF_RGD_ID:329845871 8939243 Rbp4 retinol binding protein 4 gene DOID:9004581 Pediatric Obesity ISO RGD:735251 D RGD:9068941 20230615 RGD protein:increased expression:blood plasma (human) PMID:25356519|REF_RGD_ID:329853302 8939243 Rbp4 retinol binding protein 4 gene DOID:9004898 Jaundice disease_progression ISO RGD:735251 D RGD:9068941 20230601 RGD associated with biliary atresia; protein:decreased expression:blood serum (human) PMID:21484122|REF_RGD_ID:329845870 8939243 Rbp4 retinol binding protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3546 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 8939243 Rbp4 retinol binding protein 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8939243 Rbp4 retinol binding protein 4 gene DOID:9005269 Stable Angina ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:25142320|REF_RGD_ID:329845867 8939243 Rbp4 retinol binding protein 4 gene DOID:9005605 Arteriovenous Fistula exacerbates ISO RGD:735251 D RGD:9068941 20230615 RGD protein:increased expression:blood serum (human) PMID:33556944|REF_RGD_ID:329845868 8939243 Rbp4 retinol binding protein 4 gene DOID:9005749 Necrosis ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 8939243 Rbp4 retinol binding protein 4 gene DOID:9006599 Hypertriglyceridemia ISO RGD:735251 D RGD:9068941 20230615 RGD protein:increased expression:blood serum (human) PMID:29747616|REF_RGD_ID:329849113 8939243 Rbp4 retinol binding protein 4 gene DOID:9006646 Metabolic Syndrome ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:19339013|REF_RGD_ID:329845591 8939243 Rbp4 retinol binding protein 4 gene DOID:9006646 Metabolic Syndrome disease_progression ISO RGD:735251 D RGD:9068941 20230615 RGD associated with obstructive sleep apnea;protein:increased expression:blood plasma (human) PMID:19003725|REF_RGD_ID:329853307 8939243 Rbp4 retinol binding protein 4 gene DOID:9006778 Carotid Atherosclerosis severity ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:24956535|REF_RGD_ID:329845846 8939243 Rbp4 retinol binding protein 4 gene DOID:9007692 Insulin Resistance ameliorates ISO RGD:3546 D RGD:9068941 20230615 RGD PMID:21365528|REF_RGD_ID:329853304 8939243 Rbp4 retinol binding protein 4 gene DOID:9007692 Insulin Resistance disease_progression ISO RGD:735251 D RGD:9068941 20230615 RGD protein:decreased expression:blood serum (human) PMID:29747616|REF_RGD_ID:329849113 8939243 Rbp4 retinol binding protein 4 gene DOID:9008296 Eye Abnormalities ISO RGD:735251 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:28041643 8939243 Rbp4 retinol binding protein 4 gene DOID:9008550 Vitamin A Deficiency ISO RGD:735251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16157297 8939243 Rbp4 retinol binding protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:735251 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35191604 8939243 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3546 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19080170|REF_RGD_ID:2311652 8939243 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735251 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19506831|REF_RGD_ID:2311651 8939243 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735251 D RGD:9068941 20230601 RGD mRNA:increased expression:epicardial fat (human) PMID:21645024|REF_RGD_ID:329845584 8939243 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:20436266|REF_RGD_ID:329845851 8939243 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:735251 D RGD:9068941 20230601 RGD associated with arteriosclerosis and chronic kidney disease;protein:increased expression:blood plasma (human) PMID:17875187|REF_RGD_ID:329845855 8939243 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood plasma (human) PMID:24647386|REF_RGD_ID:329845577 8939243 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:735251 D RGD:9068941 20230615 RGD protein:increased expression:blood serum (human) PMID:18973209|REF_RGD_ID:329849119 8939243 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus severity ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:20058618|REF_RGD_ID:329845844 8939243 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735251 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17174134|REF_RGD_ID:1601615 8939243 Rbp4 retinol binding protein 4 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:735251 D RGD:9068941 20230608 RGD DNA:SNP:promoter:-803G>A (human) PMID:18496666|REF_RGD_ID:329845878 8939243 Rbp4 retinol binding protein 4 gene DOID:9970 obesity ISO RGD:3546 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:adipose tissue, serum PMID:18401839|REF_RGD_ID:2302016 8939243 Rbp4 retinol binding protein 4 gene DOID:9970 obesity ameliorates ISO RGD:735252 D RGD:9068941 20230615 RGD PMID:21585349|REF_RGD_ID:329853312 8939243 Rbp4 retinol binding protein 4 gene DOID:9970 obesity disease_progression ISO RGD:735251 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:17292720|REF_RGD_ID:329845862 8939253 Aoah acyloxyacyl hydrolase gene DOID:0110606 primary ciliary dyskinesia 6 ISO RGD:1352932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 PMID:28492532 8939253 Aoah acyloxyacyl hydrolase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8939253 Aoah acyloxyacyl hydrolase gene DOID:630 genetic disease ISO RGD:1352932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939253 Aoah acyloxyacyl hydrolase gene DOID:670 amphetamine abuse ISO RGD:1352932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0050474 Netherton syndrome severity ISO RGD:1607089 D RGD:9068941 20200609 RGD protein:decreased expression:epidermis stratum corneum PMID:16601670|REF_RGD_ID:5508433 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1607089 D RGD:7240710 20240320 OMIM 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1607089 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:10079102|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15967693|PMID:16061944|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22247978|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22964618|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34134921|PMID:34275192|PMID:34586679|PMID:34649574|PMID:35639160|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9240741|PMID:9279145|PMID:9375849|PMID:9516376|PMID:9554746|PMID:9556036 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0080855 Parkinsonism ISO RGD:1607089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinsonism PMID:10079102|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:11903352|PMID:12595585|PMID:12791040|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15967693|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:1864608|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:20947659|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22451204|PMID:22623374|PMID:22713811|PMID:22820396|PMID:22975760|PMID:23035075|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27312774|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30285649|PMID:30302829|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0080855 Parkinsonism severity ISO RGD:1607089 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple (human) PMID:20838799|REF_RGD_ID:5508426 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:25741868 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0110957 Gaucher's disease type I ISO RGD:1607089 D RGD:7240710 20240320 OMIM 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0110957 Gaucher's disease type I ISO RGD:1607089 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:10079102|PMID:10340647|PMID:10352942|PMID:10369158|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10679038|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11406344|PMID:11783951|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12476451|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14728994|PMID:14757438|PMID:1487244|PMID:14994233|PMID:15146461|PMID:15214004|PMID:15276648|PMID:15329082|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15690354|PMID:15826241|PMID:1589760|PMID:15943874|PMID:15954102|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16199547|PMID:16293621|PMID:16329099|PMID:16546416|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17560820|PMID:17574891|PMID:17576681|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18030725|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19026343|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19459886|PMID:19513999|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20005137|PMID:20301446|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20880730|PMID:20946052|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21455010|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21779299|PMID:21823541|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22112991|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22234757|PMID:22247978|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22493294|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22791670|PMID:22812582|PMID:22961873|PMID:22964618|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23056756|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23332636|PMID:23386328|PMID:23418865|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23448517|PMID:2349952|PMID:23508695|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:23935976|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24313877|PMID:24434810|PMID:24482953|PMID:24513544|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24801745|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25829804|PMID:25933391|PMID:25946768|PMID:26008600|PMID:26043810|PMID:26051481|PMID:26096741|PMID:26117366|PMID:26220978|PMID:26316492|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26756743|PMID:26792850|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27008195|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27136700|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27816428|PMID:27825739|PMID:27836528|PMID:27864021|PMID:27865684|PMID:27872820|PMID:27896091|PMID:27922757|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28580830|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0110957 Gaucher's disease type I ISO RGD:1607089 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30115580|PMID:30146349|PMID:30169122|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30461613|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30637984|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:3180993|PMID:31816052|PMID:31943857|PMID:31996268|PMID:32014045|PMID:32035846|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32702516|PMID:32707456|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33301762|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:34280392|PMID:34426522|PMID:34649574|PMID:34930372|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7694727|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8751878|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9182788|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9516376|PMID:9536098|PMID:9554454|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0110958 Gaucher's disease type II ISO RGD:1607089 D RGD:7240710 20240320 OMIM 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0110958 Gaucher's disease type II ISO RGD:1607089 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acute cerebral Gaucher disease | ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type PMID:10079102|PMID:10636167|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12838552|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14728994|PMID:14757438|PMID:15146461|PMID:15276648|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15954102|PMID:16061944|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21445609|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25946768|PMID:26043810|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26689913|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27825739|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34134921|PMID:34275192|PMID:34426522|PMID:34649574|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8790604|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9279145|PMID:9375849|PMID:9516376|PMID:9554746|PMID:9556036 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0110959 Gaucher's disease type III ISO RGD:1607089 D RGD:7240710 20240320 OMIM 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0110959 Gaucher's disease type III ISO RGD:1607089 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type PMID:10466427|PMID:10636167|PMID:10649495|PMID:10714667|PMID:10757640|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12476451|PMID:12482401|PMID:12595585|PMID:12838552|PMID:1301953|PMID:1348297|PMID:14578207|PMID:14728994|PMID:14757438|PMID:15146461|PMID:15276648|PMID:15605411|PMID:15826241|PMID:15954102|PMID:16061944|PMID:16086325|PMID:16293621|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20301446|PMID:20432762|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:2502917|PMID:2508065|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25946768|PMID:26043810|PMID:26096741|PMID:26709268|PMID:26743617|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27825739|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8929950|PMID:9040001|PMID:9279145|PMID:9375849|PMID:9554746|PMID:9556036|PMID:9650766 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0110960 Gaucher's disease perinatal lethal ISO RGD:1607089 D RGD:7240710 20240320 OMIM 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0110960 Gaucher's disease perinatal lethal ISO RGD:1607089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal PMID:10079102|PMID:10352942|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15214004|PMID:15605411|PMID:15690354|PMID:15826241|PMID:15967693|PMID:16061944|PMID:16293621|PMID:16546416|PMID:16967369|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17560820|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19459886|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20005137|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21779299|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22234757|PMID:22375149|PMID:22388998|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22812582|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23418865|PMID:23426826|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25946768|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27008851|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:3180993|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8751878|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9375849|PMID:9554746|PMID:9556036 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1607089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0112250 Gaucher's disease type IIIC ISO RGD:1607089 D RGD:7240710 20240320 OMIM 8939279 Gba1 glucosylceramidase beta 1 gene DOID:0112250 Gaucher's disease type IIIC ISO RGD:1607089 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome PMID:10636167|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11148530|PMID:11336129|PMID:11359469|PMID:11933202|PMID:11992489|PMID:12482401|PMID:12838552|PMID:1348297|PMID:14578207|PMID:14728994|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16061944|PMID:16293621|PMID:16967369|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25946768|PMID:26043810|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27825739|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8790604|PMID:8929950|PMID:9040001|PMID:9375849|PMID:9554746|PMID:9556036 8939279 Gba1 glucosylceramidase beta 1 gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:7240710 20240320 OMIM 8939279 Gba1 glucosylceramidase beta 1 gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia PMID:10079102|PMID:10352942|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:15276648|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17620502|PMID:17689991|PMID:17803231|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19513999|PMID:19527940|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20301446|PMID:20425034|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21779299|PMID:21837367|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22234757|PMID:22344629|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25326392|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26792850|PMID:26868973|PMID:26905200|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27571329|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27790088|PMID:27802905|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28034821|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29423829|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29656334|PMID:29685539|PMID:29784561|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30169122|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30573413|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:31662221|PMID:31996268|PMID:32014045|PMID:32035846|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388 8939279 Gba1 glucosylceramidase beta 1 gene DOID:12217 Lewy body dementia ISO RGD:1607089 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diffuse Lewy body disease | ClinVar Annotator: match by term: Lewy body dementia PMID:32677286|PMID:32714263|PMID:32866938|PMID:32883051|PMID:32888397|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33547828|PMID:33570220|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34017912|PMID:34072005|PMID:34073924|PMID:34275192|PMID:34426522|PMID:34586679|PMID:34649574|PMID:35639160|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8790604|PMID:8829654|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9497856|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561 8939279 Gba1 glucosylceramidase beta 1 gene DOID:14330 Parkinson's disease ISO RGD:1607089 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:12482401|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16967369|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26296077|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34134921|PMID:34275192|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8929950|PMID:9375849|PMID:9516376|PMID:9554746|PMID:9556036 8939279 Gba1 glucosylceramidase beta 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:1607089 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human) PMID:19945510|REF_RGD_ID:5508429 8939279 Gba1 glucosylceramidase beta 1 gene DOID:14330 Parkinson's disease onset ISO RGD:1607089 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N370S (human) PMID:20528910|REF_RGD_ID:5508427 8939279 Gba1 glucosylceramidase beta 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8939279 Gba1 glucosylceramidase beta 1 gene DOID:1588 thrombocytopenia ISO RGD:1607089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10796875|PMID:12482401|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:7789963|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:9554746|PMID:9556036 8939279 Gba1 glucosylceramidase beta 1 gene DOID:1926 Gaucher's disease ISO RGD:1607089 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease PMID:10079102|PMID:10206680|PMID:10352942|PMID:10369158|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10679038|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11406344|PMID:11600137|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12000368|PMID:12204005|PMID:12476451|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12667990|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14509164|PMID:14578207|PMID:14728994|PMID:14757438|PMID:1487244|PMID:14994233|PMID:15146461|PMID:15214004|PMID:15276648|PMID:15329082|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15690354|PMID:15826241|PMID:1589760|PMID:15916907|PMID:15943874|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16326120|PMID:16329099|PMID:16546416|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17560820|PMID:17574891|PMID:17576681|PMID:17620502|PMID:17689991|PMID:17803231|PMID:17875915|PMID:18022370|PMID:18030725|PMID:18078074|PMID:18160183|PMID:18160322|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19026343|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19433656|PMID:19433657|PMID:19459886|PMID:19513999|PMID:19527940|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19790257|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20005137|PMID:20301446|PMID:20425034|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20880730|PMID:20946052|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21455010|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21779299|PMID:21796727|PMID:21823541|PMID:21831682|PMID:21837367|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22112991|PMID:22118943|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22234757|PMID:22247978|PMID:22344629|PMID:22350617|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22791670|PMID:22812582|PMID:22884962|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23035075|PMID:23056756|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23332636|PMID:23386328|PMID:23418865|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23430949|PMID:23448517|PMID:2349952|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:23935976|PMID:23936319|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24313877|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24801745|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25326392|PMID:25333069|PMID:25356393|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25637381|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25829804|PMID:25933391|PMID:25946768|PMID:26000814|PMID:26008600|PMID:26043810|PMID:26051481|PMID:26096741|PMID:26117366|PMID:26220978|PMID:26296077|PMID:26316492|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26756743|PMID:26792850|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27007895|PMID:27008195|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27136700|PMID:27153395 8939279 Gba1 glucosylceramidase beta 1 gene DOID:1926 Gaucher's disease ISO RGD:1607089 D RGD:8554872 20240206 ClinVar ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27334896|PMID:27393345|PMID:27397011|PMID:27571329|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27790088|PMID:27802905|PMID:27816428|PMID:27825739|PMID:27836528|PMID:27864021|PMID:27865684|PMID:27872820|PMID:27896091|PMID:27922757|PMID:28034821|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28580830|PMID:28686011|PMID:28727984|PMID:28749476|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28944235|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29423829|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29656334|PMID:29685539|PMID:29784561|PMID:29842932|PMID:29934114|PMID:29948939|PMID:29980418|PMID:30115580|PMID:30146349|PMID:30169122|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30461613|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30573413|PMID:30606667|PMID:30609409|PMID:30637984|PMID:30662625|PMID:30764785|PMID:30777654|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31256856|PMID:31561936|PMID:31662221|PMID:31799121|PMID:3180993|PMID:31816052|PMID:31996268|PMID:32014045|PMID:32035846|PMID:32042592|PMID:32165122|PMID:32404250|PMID:32547927|PMID:32613234|PMID:32618053|PMID:32623306|PMID:32658388|PMID:32677286|PMID:32702516|PMID:32707456|PMID:32714263|PMID:32866938|PMID:32883051|PMID:32888397|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33277783|PMID:33281709|PMID:33301762|PMID:33334373|PMID:33402667|PMID:33420335|PMID:33473340|PMID:3353383|PMID:33547828|PMID:33570220|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34017912|PMID:34072005|PMID:34073924|PMID:34134921|PMID:34275192|PMID:34280392|PMID:34282371|PMID:34426522|PMID:34440436|PMID:34450264|PMID:34586679|PMID:34649574|PMID:34867278|PMID:34930372|PMID:35262230|PMID:35639160|PMID:7475546|PMID:7500895|PMID:7627184|PMID:7655857|PMID:7694727|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8081401|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8547070|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8829663|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9182788|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9497856|PMID:9516376|PMID:9536098|PMID:9554454|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561 8939279 Gba1 glucosylceramidase beta 1 gene DOID:2213 hemorrhagic disease ISO RGD:1607089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10466427|PMID:10757640|PMID:10796875|PMID:12482401|PMID:12595585|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16981045|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20432762|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23277556|PMID:23430543|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25456120|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25946768|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:7789963|PMID:8081401|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:9153297|PMID:9554746|PMID:9556036 8939279 Gba1 glucosylceramidase beta 1 gene DOID:480 movement disease ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Movement disorder PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:14757438|PMID:15146461|PMID:15605411|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22623374|PMID:22713811|PMID:22975760|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26096741|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:30146349|PMID:30285649|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849 8939279 Gba1 glucosylceramidase beta 1 gene DOID:5812 MHC class II deficiency ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8939279 Gba1 glucosylceramidase beta 1 gene DOID:630 genetic disease ISO RGD:1607089 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10079102|PMID:10369158|PMID:10636167|PMID:10649495|PMID:10679038|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12838552|PMID:12972024|PMID:1301953|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:15276648|PMID:15329082|PMID:1558964|PMID:15605411|PMID:15690354|PMID:15826241|PMID:1589760|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19459886|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22247978|PMID:22344629|PMID:22388998|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22791670|PMID:22812582|PMID:22820396|PMID:2295698|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23035075|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23430949|PMID:23448517|PMID:2349952|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24278166|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24756352|PMID:24801745|PMID:2502917|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26008600|PMID:26096741|PMID:26117366|PMID:26220978|PMID:26689913|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27007895|PMID:27008195|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27136700|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27802905|PMID:27816428|PMID:27836528|PMID:27864021|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28030538|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29854527|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30461613|PMID:30487145|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31799121|PMID:31996268|PMID:32014045|PMID:32031266|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33277783|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7857677|PMID:7916532|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487 8939279 Gba1 glucosylceramidase beta 1 gene DOID:630 genetic disease ISO RGD:1607089 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9175735|PMID:9240741|PMID:9279145|PMID:9375849|PMID:9516376|PMID:9554454|PMID:9554746|PMID:9556036 8939279 Gba1 glucosylceramidase beta 1 gene DOID:6432 pulmonary hypertension ISO RGD:1607089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12359135 8939279 Gba1 glucosylceramidase beta 1 gene DOID:687 hepatoblastoma ISO RGD:1607089 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:12204005|PMID:21228398|PMID:23430543|PMID:25741868 8939279 Gba1 glucosylceramidase beta 1 gene DOID:8893 psoriasis ISO RGD:1607089 D RGD:9068941 20200609 RGD PMID:15610510|REF_RGD_ID:5508434 8939279 Gba1 glucosylceramidase beta 1 gene DOID:9000495 Tremor ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Resting tremor PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:14757438|PMID:15146461|PMID:15605411|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22623374|PMID:22713811|PMID:22975760|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26096741|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:30146349|PMID:30285649|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849 8939279 Gba1 glucosylceramidase beta 1 gene DOID:9005372 Inflammation ISO RGD:1623310 D RGD:9068941 20200609 RGD PMID:11994410|REF_RGD_ID:5508435 8939279 Gba1 glucosylceramidase beta 1 gene DOID:9005940 Autosomal Dominant Diffuse Lewy Body Disease ISO RGD:1607089 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:12482401|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16967369|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:1971142|PMID:1972019|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8929950|PMID:9375849|PMID:9554746|PMID:9556036 8939279 Gba1 glucosylceramidase beta 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8939296 Actn1 actinin alpha 1 gene DOID:0111053 platelet-type bleeding disorder 15 ISO RGD:736411 D RGD:7240710 20180130 OMIM 8939296 Actn1 actinin alpha 1 gene DOID:0111053 platelet-type bleeding disorder 15 ISO RGD:736411 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:25949529|PMID:26453073|PMID:26879394|PMID:28492532|PMID:28562514|PMID:30351444|PMID:31064749|PMID:31237726|PMID:31365757|PMID:32478077|PMID:32581362|PMID:34355501 8939296 Actn1 actinin alpha 1 gene DOID:1588 thrombocytopenia ISO RGD:736411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:28492532|PMID:30351444|PMID:31064749|PMID:31237726|PMID:32581362 8939296 Actn1 actinin alpha 1 gene DOID:2213 hemorrhagic disease ISO RGD:736411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8939296 Actn1 actinin alpha 1 gene DOID:630 genetic disease ISO RGD:736411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:25949529|PMID:28492532|PMID:30351444|PMID:31064749|PMID:32581362 8939296 Actn1 actinin alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8939296 Actn1 actinin alpha 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736411 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8939330 Rngtt RNA guanylyltransferase and 5'-phosphatase gene DOID:630 genetic disease ISO RGD:1322859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939364 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8939364 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8939364 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8939364 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8939364 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8939364 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8939364 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:630 genetic disease ISO RGD:1351001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939364 Hapln2 hyaluronan and proteoglycan link protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8939379 H1-5 H1.5 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1351111 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939384 Rnf141 ring finger protein 141 gene DOID:630 genetic disease ISO RGD:1350770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939400 Fgr FGR proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:733253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939400 Fgr FGR proto-oncogene, Src family tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733253 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8939455 Gabrr3 gamma-aminobutyric acid type A receptor subunit rho3 gene DOID:630 genetic disease ISO RGD:1352541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939467 Actbl2 actin beta like 2 gene DOID:630 genetic disease ISO RGD:1603843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939467 Actbl2 actin beta like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603843 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8939476 Plcl1 phospholipase C like 1 (inactive) gene DOID:630 genetic disease ISO RGD:733121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939476 Plcl1 phospholipase C like 1 (inactive) gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:708420 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 8939476 Plcl1 phospholipase C like 1 (inactive) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733121 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8939485 Tapt1 transmembrane anterior posterior transformation 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605561 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8939485 Tapt1 transmembrane anterior posterior transformation 1 gene DOID:630 genetic disease ISO RGD:1605561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8939485 Tapt1 transmembrane anterior posterior transformation 1 gene DOID:9000260 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE ISO RGD:1605561 D RGD:7240710 20190315 OMIM 8939485 Tapt1 transmembrane anterior posterior transformation 1 gene DOID:9000260 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE ISO RGD:1605561 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type PMID:25741868|PMID:26365339|PMID:28492532 8939485 Tapt1 transmembrane anterior posterior transformation 1 gene DOID:9007661 Dwarfism ISO RGD:1605561 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 8939516 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1352195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8939516 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1352195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8939516 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1352195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8939516 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1352195 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8939516 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:1059 intellectual disability ISO RGD:1352195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8939516 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:630 genetic disease ISO RGD:1352195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939516 Rnpepl1 arginyl aminopeptidase like 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8939535 Kif12 kinesin family member 12 gene DOID:10283 prostate cancer ISO RGD:1318282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8939535 Kif12 kinesin family member 12 gene DOID:630 genetic disease ISO RGD:1318282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939535 Kif12 kinesin family member 12 gene DOID:9002626 Progressive Familial Intrahepatic Cholestasis 8 ISO RGD:1318282 D RGD:7240710 20211222 OMIM 8939535 Kif12 kinesin family member 12 gene DOID:9002626 Progressive Familial Intrahepatic Cholestasis 8 ISO RGD:1318282 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 8 PMID:25741868|PMID:30250217|PMID:30976738|PMID:34555379 8939595 Lrrc75b leucine rich repeat containing 75B gene DOID:1826 epilepsy ISO RGD:1606646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8939595 Lrrc75b leucine rich repeat containing 75B gene DOID:5419 schizophrenia ISO RGD:1606646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8939595 Lrrc75b leucine rich repeat containing 75B gene DOID:630 genetic disease ISO RGD:1606646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939608 Cdh2 cadherin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731820 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:c.686A>C(p.Q229P), c.1219G>A (p.D407N)(human) PMID:28280076|REF_RGD_ID:13524622 8939608 Cdh2 cadherin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:731820 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.1219G>A(p.D407N)(human) PMID:28326674|REF_RGD_ID:13524623 8939608 Cdh2 cadherin 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:731821 D RGD:9068941 20200609 RGD PMID:7502046|REF_RGD_ID:734737 8939608 Cdh2 cadherin 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:731820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 8939608 Cdh2 cadherin 2 gene DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome ISO RGD:731820 D RGD:7240710 20200910 OMIM 8939608 Cdh2 cadherin 2 gene DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome ISO RGD:731820 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome PMID:18798333|PMID:25741868|PMID:28492532|PMID:31585109|PMID:31650526 8939608 Cdh2 cadherin 2 gene DOID:0080959 arrhythmogenic right ventricular dysplasia 14 ISO RGD:731820 D RGD:7240710 20200701 OMIM 8939608 Cdh2 cadherin 2 gene DOID:0080959 arrhythmogenic right ventricular dysplasia 14 ISO RGD:731820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 14 PMID:25741868|PMID:28280076|PMID:28326674|PMID:28492532 8939608 Cdh2 cadherin 2 gene DOID:1059 intellectual disability ISO RGD:731820 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8939608 Cdh2 cadherin 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731821 D RGD:9068941 20230302 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 8939608 Cdh2 cadherin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:731820 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 8939608 Cdh2 cadherin 2 gene DOID:1824 status epilepticus ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12125071 8939608 Cdh2 cadherin 2 gene DOID:630 genetic disease ISO RGD:731820 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8939608 Cdh2 cadherin 2 gene DOID:630 genetic disease ISO RGD:731820 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532|PMID:30847666|PMID:31585109 8939608 Cdh2 cadherin 2 gene DOID:9000019 Attention Deficit-Hyperactivity Disorder 8 ISO RGD:731820 D RGD:7240710 20220720 OMIM 8939608 Cdh2 cadherin 2 gene DOID:9000019 Attention Deficit-Hyperactivity Disorder 8 ISO RGD:731820 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Attention deficit-hyperactivity disorder 8 PMID:25741868|PMID:28492532 8939608 Cdh2 cadherin 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8939608 Cdh2 cadherin 2 gene DOID:9000918 Disease Progression ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23876460 8939608 Cdh2 cadherin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23876460 8939608 Cdh2 cadherin 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731820 D RGD:9068941 20200924 RGD mRNA:increased expression:lung PMID:25593290|REF_RGD_ID:38500244 8939608 Cdh2 cadherin 2 gene DOID:9001890 Auditory Neuropathy ISO RGD:731820 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy PMID:28492532 8939608 Cdh2 cadherin 2 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:731820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis | ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:31585109 8939608 Cdh2 cadherin 2 gene DOID:9002245 Intestinal Neoplasms ISO RGD:731821 D RGD:9068941 20200609 RGD PMID:7502046|REF_RGD_ID:734737 8939608 Cdh2 cadherin 2 gene DOID:9002955 Nerve Degeneration ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12387456 8939608 Cdh2 cadherin 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 8939608 Cdh2 cadherin 2 gene DOID:9006205 Animal Disease Models ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 8939608 Cdh2 cadherin 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8939608 Cdh2 cadherin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:731820 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 8939628 Cers2 ceramide synthase 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8939628 Cers2 ceramide synthase 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8939628 Cers2 ceramide synthase 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1320742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8939628 Cers2 ceramide synthase 2 gene DOID:11446 sciatic neuropathy ISO RGD:1310059 D RGD:9068941 20220428 RGD mRNA,protein:decreased expression:sciatic nerve: PMID:22393241|REF_RGD_ID:11041067 8939628 Cers2 ceramide synthase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8939628 Cers2 ceramide synthase 2 gene DOID:5812 MHC class II deficiency ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8939628 Cers2 ceramide synthase 2 gene DOID:630 genetic disease ISO RGD:1320742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939628 Cers2 ceramide synthase 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8939628 Cers2 ceramide synthase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8939670 Rpl5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:7240710 20180130 OMIM 8939670 Rpl5 ribosomal protein L5 gene DOID:0111879 Diamond-Blackfan anemia 6 ISO RGD:731697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522 8939670 Rpl5 ribosomal protein L5 gene DOID:0111895 Diamond-Blackfan anemia 1 ISO RGD:731697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20960466|PMID:23718193|PMID:25741868|PMID:28492532 8939670 Rpl5 ribosomal protein L5 gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:731697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 8939670 Rpl5 ribosomal protein L5 gene DOID:12449 aplastic anemia ISO RGD:731697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:25741868 8939670 Rpl5 ribosomal protein L5 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731697 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16199547|PMID:17576681|PMID:19061985|PMID:19191325|PMID:19773262|PMID:20054847|PMID:20378560|PMID:20960466|PMID:22689679|PMID:23718193|PMID:23744582|PMID:25741868|PMID:25946618|PMID:27432187|PMID:28492532|PMID:28694211|PMID:28991257|PMID:30183354|PMID:30503522|PMID:33718801|PMID:9536098 8939670 Rpl5 ribosomal protein L5 gene DOID:1342 congenital hypoplastic anemia ISO RGD:731697 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:25741868|PMID:28492532 8939670 Rpl5 ribosomal protein L5 gene DOID:3068 glioblastoma ISO RGD:731697 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:26892688|REF_RGD_ID:11535147 8939670 Rpl5 ribosomal protein L5 gene DOID:5119 ovarian cyst ISO RGD:731697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8939670 Rpl5 ribosomal protein L5 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263491 8939670 Rpl5 ribosomal protein L5 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:731697 D RGD:9068941 20200609 RGD DNA:snps, insertion, deletion:cds:multiple (human) PMID:23263491|REF_RGD_ID:11535135 8939670 Rpl5 ribosomal protein L5 gene DOID:630 genetic disease ISO RGD:731697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939684 Nebl nebulette gene DOID:0050700 cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 8939684 Nebl nebulette gene DOID:0060224 atrial fibrillation ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation 8939684 Nebl nebulette gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1318016 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:33762593 8939684 Nebl nebulette gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1318016 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20951326|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:33762593 8939684 Nebl nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:27186169|PMID:28166811|PMID:28492532|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:9536098 8939684 Nebl nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:27186169|PMID:28166811|PMID:28492532|PMID:29247119|PMID:29915097|PMID:30206291|PMID:9536098 8939684 Nebl nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28166811|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29915097|PMID:30206291|PMID:9536098 8939684 Nebl nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:9536098 8939684 Nebl nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:33762593|PMID:9536098 8939684 Nebl nebulette gene DOID:12930 dilated cardiomyopathy ISO RGD:1318016 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:33762593|PMID:36303204|PMID:9536098 8939684 Nebl nebulette gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:1318016 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N654K (human) PMID:11140941|REF_RGD_ID:1581084 8939684 Nebl nebulette gene DOID:2843 long QT syndrome ISO RGD:1318016 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:33762593 8939684 Nebl nebulette gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8939684 Nebl nebulette gene DOID:630 genetic disease ISO RGD:1318016 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:28492532 8939684 Nebl nebulette gene DOID:9007820 Sudden Death ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868|PMID:28492532 8939684 Nebl nebulette gene DOID:9007925 Sudden Cardiac Death ISO RGD:1318016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 8939722 Tnks tankyrase gene DOID:630 genetic disease ISO RGD:1343497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939722 Tnks tankyrase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8939753 Znf385b zinc finger protein 385B gene DOID:630 genetic disease ISO RGD:1322504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939819 Fgd3 FYVE, RhoGEF and PH domain containing 3 gene DOID:630 genetic disease ISO RGD:1323332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939842 Tmc3 transmembrane channel like 3 gene DOID:2717 Bloom syndrome ISO RGD:1352795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8939842 Tmc3 transmembrane channel like 3 gene DOID:630 genetic disease ISO RGD:1352795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939842 Tmc3 transmembrane channel like 3 gene DOID:9256 colorectal cancer ISO RGD:1352795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8939868 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:0080389 nephrotic syndrome type 8 ISO RGD:1354371 D RGD:7240710 20180130 OMIM 8939868 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:0080389 nephrotic syndrome type 8 ISO RGD:1354371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 8 PMID:23867502|PMID:25741868|PMID:25741905|PMID:28492532 8939868 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1354371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:25741868 8939868 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:10763 hypertension ISO RGD:1359547 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:19689474|REF_RGD_ID:9684972 8939868 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:10763 hypertension ISO RGD:1359547 D RGD:9068941 20200609 RGD protein:decreased expression:cortical collecting duct PMID:25164814|REF_RGD_ID:9684979 8939868 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:1184 nephrotic syndrome ISO RGD:1552296 D RGD:9068941 20220825 MouseDO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 8939868 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8939868 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:630 genetic disease ISO RGD:1354371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939868 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:784 chronic kidney disease ISO RGD:1354371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 8939868 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:9000058 Keloid ISO RGD:1354371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8939868 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8939868 Arhgdia Rho GDP dissociation inhibitor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1354371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8939882 Col28a1 collagen type XXVIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1604476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939882 Col28a1 collagen type XXVIII alpha 1 chain gene DOID:670 amphetamine abuse ISO RGD:1604476 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8939945 Etfbkmt electron transfer flavoprotein subunit beta lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1602640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939963 Fhl2 four and a half LIM domains 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 8939963 Fhl2 four and a half LIM domains 2 gene DOID:0050700 cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:17416352|PMID:24033266|PMID:25741868|PMID:26627873|PMID:28492532|PMID:31333075|PMID:31568572 8939963 Fhl2 four and a half LIM domains 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 8939963 Fhl2 four and a half LIM domains 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17416352|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:26627873|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 8939963 Fhl2 four and a half LIM domains 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350947 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16199547|PMID:17416352|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:26627873|PMID:27532257|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:33932144|PMID:9536098 8939963 Fhl2 four and a half LIM domains 2 gene DOID:630 genetic disease ISO RGD:1350947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8939963 Fhl2 four and a half LIM domains 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1350947 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:28492532 8939963 Fhl2 four and a half LIM domains 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8939963 Fhl2 four and a half LIM domains 2 gene DOID:9003936 Cardiomegaly ISO RGD:1350947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25358972 8939963 Fhl2 four and a half LIM domains 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1350947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682292 8939963 Fhl2 four and a half LIM domains 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1350947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8939979 LOC102028949 olfactory receptor 6N1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8939979 LOC102028949 olfactory receptor 6N1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8939979 LOC102028949 olfactory receptor 6N1 gene DOID:630 genetic disease ISO RGD:1347518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8939979 LOC102028949 olfactory receptor 6N1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:0050465 Muir-Torre syndrome ISO RGD:732571 D RGD:9068941 20220825 MouseDO OMIM:158320 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:SNP:intron:increased risk in carriers of minor allele of SNP rs760317 PMID:15705877|REF_RGD_ID:2289878 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:SNP:intron:reduced risk in carriers of minor allele of SNP rs760317 PMID:17548701|REF_RGD_ID:2289869 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:10283 prostate cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:methylation percentage 15% in tumors vs no methylation in nonmalignant prostate PMID:11839671|REF_RGD_ID:2289896 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter:hypermethylation found in 16/98 (16%) of tumors, associated with poor survival PMID:11751381|REF_RGD_ID:2289897 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:1344220 D RGD:9068941 20200609 RGD associated with Schistosomiasis;DNA:hypermethylation:urinary bladder PMID:15154012|REF_RGD_ID:2301233 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:11054 urinary bladder cancer ISO RGD:732571 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:15591090|REF_RGD_ID:2301232 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:11372 megacolon ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:12849 autistic disorder ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:13938 amenorrhea ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:1749 squamous cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors PMID:17467893|REF_RGD_ID:2289871 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:2999 granulosa cell tumor ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter, ovary PMID:15574200|REF_RGD_ID:2298508 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:3008 invasive ductal carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity,hypermethylation:breast:LOH in 8/40 tumors (20%), hypermethylation in 22/46 tumors (48%), significant positive association found (p=0.04) PMID:12231533|REF_RGD_ID:2289894 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:303 substance-related disorder ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:305 carcinoma ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16061637 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11788890 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1344220 D RGD:9068941 20200609 RGD PMID:9850082|REF_RGD_ID:13792770 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:intron: PMID:9635574|REF_RGD_ID:13792815 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:4440 seminoma ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression::no expression observed in less mature seminomatous neoplastic tissues; re-expression seen in mature teratomatous tissues PMID:12379753|REF_RGD_ID:2289879 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:4450 renal cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD DNA:translocation::t(3;8)(p14;q24.1) results in disruption of FHIT and TRC8/RNF139 genes PMID:17539022|REF_RGD_ID:2289870 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:4450 renal cell carcinoma ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression::reduced or negative expression in 78% of clear cell RCCs PMID:10530564|REF_RGD_ID:2289903 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:5419 schizophrenia ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:630 genetic disease ISO RGD:1344220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:670 amphetamine abuse ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:684 hepatocellular carcinoma ISO RGD:620448 D RGD:9068941 20200609 RGD PMID:12112319|REF_RGD_ID:632723 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9000217 Stomach Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12958204 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:14670177|REF_RGD_ID:2301235 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:732571 D RGD:9068941 20230504 RGD PMID:30107138|REF_RGD_ID:329349307 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17548701 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD mRNA,DNA:alternative form,loss of heterozygosity::abnormal transcript in 2/54 cases (4%), LOH in 8/54 cases (15%) PMID:9569038|REF_RGD_ID:2289905 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD associated with smoking; DNA:decreased expression,deletions,gene instability::frequency of genomic alterations significantly higher for smokers than nonsmokers (P<0.02) PMID:16115913|REF_RGD_ID:2289874 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors PMID:17467893|REF_RGD_ID:2289871 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9003373 Uterine Cervical Neoplasms no_association ISO RGD:1344220 D RGD:9068941 20200609 RGD mRNA:alternative form::all tumors examined had full-length transcripts despite LOH at 3p14 in 39%, frequency of minor transcripts the same in tumors and normal tissues PMID:9462708|REF_RGD_ID:2289906 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9003566 Mesothelioma ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569398|PMID:18038314 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9004643 Urologic Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9005172 Lung Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10959838|PMID:16061637 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9005804 Vulvar Neoplasms disease_progression ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:vulva, squamous epithelial cell PMID:16608079|REF_RGD_ID:2301231 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9007188 Liver Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12112319 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium:loss of expression in 41/111 (37%) of tumors, significantly associated with poor survival and/or poor prognostic indicators PMID:10873085|REF_RGD_ID:2289899 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9008939 Breast Neoplasms ISO RGD:1344220 D RGD:9068941 20200609 RGD lobular breast cancer; DNA:loss of heterozygosity::LOH within the FHIT gene in 16% of cases, significant association between LOH and reduced or negative expression PMID:10930803|REF_RGD_ID:2289898 8940002 Fhit fragile histidine triad diadenosine triphosphatase gene DOID:9008939 Breast Neoplasms severity ISO RGD:1344220 D RGD:9068941 20200609 RGD protein:decreased expression:breast:frequency increases from 0% in nonproliferative benign breast disease to 41% in invasive carcinoma PMID:17164758|REF_RGD_ID:2289872 8940020 Fancl FA complementation group L gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1322885 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 8940020 Fancl FA complementation group L gene DOID:0111082 Fanconi anemia complementation group L ISO RGD:1322885 D RGD:7240710 20180130 OMIM 8940020 Fancl FA complementation group L gene DOID:0111082 Fanconi anemia complementation group L ISO RGD:1322885 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group L PMID:12973351|PMID:16199547|PMID:17576681|PMID:17938197|PMID:19111657|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:24389026|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26740942|PMID:26822237|PMID:26822949|PMID:27041517|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31937788|PMID:31942411|PMID:31980526|PMID:32191290|PMID:32235514|PMID:32420600|PMID:32789750|PMID:33727708|PMID:34008892|PMID:34308104|PMID:35454841|PMID:9536098 8940020 Fancl FA complementation group L gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1322885 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:25741868|PMID:26822237|PMID:26822949|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:30306255|PMID:32235514|PMID:9536098 8940020 Fancl FA complementation group L gene DOID:0111766 X-linked VACTERL association ISO RGD:1322885 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus PMID:19405097|PMID:23613520|PMID:25741868|PMID:25754594|PMID:28492532|PMID:29625052 8940020 Fancl FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28492532|PMID:29335925|PMID:29478780|PMID:29625052|PMID:30995915|PMID:31300551|PMID:31513304|PMID:32789750|PMID:34008892|PMID:9536098 8940020 Fancl FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:16199547|PMID:17576681|PMID:19405097|PMID:21279724|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31942411|PMID:31980526|PMID:32008151|PMID:32235514|PMID:32420600|PMID:32789750|PMID:34008892|PMID:34647594|PMID:9536098 8940020 Fancl FA complementation group L gene DOID:13636 Fanconi anemia ISO RGD:1322885 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:12973351|PMID:16199547|PMID:17576681|PMID:17938197|PMID:19111657|PMID:19405097|PMID:21279724|PMID:22720145|PMID:23613520|PMID:24033266|PMID:24389026|PMID:25239263|PMID:25659033|PMID:25741868|PMID:25754594|PMID:26149689|PMID:26740942|PMID:26822237|PMID:26822949|PMID:27153395|PMID:27986371|PMID:28104920|PMID:28125075|PMID:28423363|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29335925|PMID:29416752|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30995915|PMID:31300551|PMID:31513304|PMID:31937788|PMID:31942411|PMID:31980526|PMID:32008151|PMID:32191290|PMID:32235514|PMID:32420600|PMID:32789750|PMID:33727708|PMID:34008892|PMID:34308104|PMID:34647594|PMID:35454841|PMID:9536098 8940020 Fancl FA complementation group L gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:1618380 D RGD:9068941 20220825 MouseDO OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 8940020 Fancl FA complementation group L gene DOID:14679 VACTERL association ISO RGD:1322885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VATER association PMID:19405097|PMID:23613520|PMID:25754594|PMID:28492532 8940020 Fancl FA complementation group L gene DOID:5426 primary ovarian insufficiency ISO RGD:1322885 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:19405097|PMID:23613520|PMID:24033266|PMID:25239263|PMID:25659033|PMID:25741868|PMID:27153395|PMID:28104920|PMID:28492532|PMID:31980526|PMID:32191290|PMID:34308104 8940020 Fancl FA complementation group L gene DOID:630 genetic disease ISO RGD:1322885 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8940055 Akap3 A-kinase anchoring protein 3 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1348905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8940055 Akap3 A-kinase anchoring protein 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1348905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8940055 Akap3 A-kinase anchoring protein 3 gene DOID:630 genetic disease ISO RGD:1348905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940055 Akap3 A-kinase anchoring protein 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8940055 Akap3 A-kinase anchoring protein 3 gene DOID:9008398 Spermatogenic Failure 82 ISO RGD:1348905 D RGD:7240710 20230505 OMIM 8940055 Akap3 A-kinase anchoring protein 3 gene DOID:9008398 Spermatogenic Failure 82 ISO RGD:1348905 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 82 8940072 Yipf7 Yip1 domain family member 7 gene DOID:630 genetic disease ISO RGD:1604708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940088 Irag1 inositol 1,4,5-triphosphate receptor associated 1 gene DOID:630 genetic disease ISO RGD:1320377 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940123 Nr2c2 nuclear receptor subfamily 2 group C member 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1353162 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8940123 Nr2c2 nuclear receptor subfamily 2 group C member 2 gene DOID:289 endometriosis ISO RGD:1353162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8940123 Nr2c2 nuclear receptor subfamily 2 group C member 2 gene DOID:630 genetic disease ISO RGD:1353162 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940123 Nr2c2 nuclear receptor subfamily 2 group C member 2 gene DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium ISO RGD:735810 D RGD:9068941 20200609 RGD PMID:21221781|REF_RGD_ID:7775017 8940144 Kdr kinase insert domain receptor gene DOID:0001816 angiosarcoma ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 8940144 Kdr kinase insert domain receptor gene DOID:0002116 pterygium ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:conjunctiva: PMID:15885787|REF_RGD_ID:8549762 8940144 Kdr kinase insert domain receptor gene DOID:0002116 pterygium disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva: PMID:23376569|REF_RGD_ID:8549754 8940144 Kdr kinase insert domain receptor gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:731018 D RGD:9068941 20210507 RGD protein:altered phosphorylation:colon PMID:25372416|REF_RGD_ID:126848811 8940144 Kdr kinase insert domain receptor gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:26325365|REF_RGD_ID:11529678 8940144 Kdr kinase insert domain receptor gene DOID:0050865 tongue squamous cell carcinoma treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:19380367|REF_RGD_ID:8551769 8940144 Kdr kinase insert domain receptor gene DOID:0050904 salivary gland carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:26498950|REF_RGD_ID:126907998 8940144 Kdr kinase insert domain receptor gene DOID:0060108 brain glioma ISO RGD:731018 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:33900414|REF_RGD_ID:151660356 8940144 Kdr kinase insert domain receptor gene DOID:0060180 colitis ISO RGD:2965 D RGD:9068941 20200609 RGD protein:increased expression:colon: PMID:22261574|REF_RGD_ID:7207796 8940144 Kdr kinase insert domain receptor gene DOID:0060669 cerebral cavernous malformation ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:11220380|REF_RGD_ID:8551824 8940144 Kdr kinase insert domain receptor gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell: PMID:11220380|REF_RGD_ID:8551824 8940144 Kdr kinase insert domain receptor gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:731018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 8940144 Kdr kinase insert domain receptor gene DOID:0080158 herpes simplex virus keratitis ISO RGD:10836 D RGD:9068941 20200609 RGD protein:increased expression:cornea: PMID:16951377|REF_RGD_ID:8549742 8940144 Kdr kinase insert domain receptor gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:16951377|REF_RGD_ID:8549742 8940144 Kdr kinase insert domain receptor gene DOID:10283 prostate cancer ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8940144 Kdr kinase insert domain receptor gene DOID:10487 Hirschsprung's disease ISO RGD:731018 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24728327|PMID:28492532 8940144 Kdr kinase insert domain receptor gene DOID:10534 stomach cancer disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNP: :rs1870377 (human) PMID:30380970|REF_RGD_ID:126907999 8940144 Kdr kinase insert domain receptor gene DOID:10534 stomach cancer no_association ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNPs: :rs7667298, rs2071559, rs2305948 (human) PMID:30380970|REF_RGD_ID:126907999 8940144 Kdr kinase insert domain receptor gene DOID:10763 hypertension ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:15838270|REF_RGD_ID:5684418 8940144 Kdr kinase insert domain receptor gene DOID:10763 hypertension treatment ISO RGD:731018 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.H472Q(human) PMID:20630084|REF_RGD_ID:8552374 8940144 Kdr kinase insert domain receptor gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:731018 D RGD:9068941 20200609 RGD DNA:SNP: :rs2071559(human) PMID:22919317|REF_RGD_ID:8549752 8940144 Kdr kinase insert domain receptor gene DOID:11054 urinary bladder cancer ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:12215294|REF_RGD_ID:2301758 8940144 Kdr kinase insert domain receptor gene DOID:11054 urinary bladder cancer severity ISO RGD:731018 D RGD:9068941 20200609 RGD protein::tumor:expression in >50% of non-endothelial cells associated with increased survival (p=0.0119) PMID:12940780|REF_RGD_ID:2291949 8940144 Kdr kinase insert domain receptor gene DOID:11132 prostatic hypertrophy ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:15999482|REF_RGD_ID:2292079 8940144 Kdr kinase insert domain receptor gene DOID:1115 sarcoma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:uterus PMID:15823121|REF_RGD_ID:2289964 8940144 Kdr kinase insert domain receptor gene DOID:11212 hydrophthalmos ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:22426483|REF_RGD_ID:8549773 8940144 Kdr kinase insert domain receptor gene DOID:11382 corneal neovascularization treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:18263815|PMID:21691137|REF_RGD_ID:8549714|REF_RGD_ID:8549755 8940144 Kdr kinase insert domain receptor gene DOID:13025 retinopathy of prematurity ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:21731737|REF_RGD_ID:5684426 8940144 Kdr kinase insert domain receptor gene DOID:13025 retinopathy of prematurity ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:15039215|REF_RGD_ID:8549753 8940144 Kdr kinase insert domain receptor gene DOID:13025 retinopathy of prematurity ISO RGD:731018 D RGD:9068941 20200609 RGD associated with premature birth;protein:increased expression:plasma: PMID:18408080|REF_RGD_ID:8549746 8940144 Kdr kinase insert domain receptor gene DOID:13025 retinopathy of prematurity treatment ISO RGD:2965 D RGD:9068941 20221117 RGD PMID:30652694|REF_RGD_ID:155663485 8940144 Kdr kinase insert domain receptor gene DOID:13812 adhesions of uterus severity ISO RGD:731018 D RGD:9068941 20210514 RGD mRNA, protein:increased expression:endometrium PMID:31596310|REF_RGD_ID:126925216 8940144 Kdr kinase insert domain receptor gene DOID:13812 adhesions of uterus treatment ISO RGD:2965 D RGD:9068941 20210514 RGD PMID:31596310|REF_RGD_ID:126925216 8940144 Kdr kinase insert domain receptor gene DOID:1475 lymphangioma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:;lymphatic endothelial cell: PMID:17584927|REF_RGD_ID:8552338 8940144 Kdr kinase insert domain receptor gene DOID:1520 colon carcinoma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon 8940144 Kdr kinase insert domain receptor gene DOID:1520 colon carcinoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:12415261|REF_RGD_ID:126925192 8940144 Kdr kinase insert domain receptor gene DOID:1577 limited scleroderma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19886888|REF_RGD_ID:8551850 8940144 Kdr kinase insert domain receptor gene DOID:1580 diffuse scleroderma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19886888|REF_RGD_ID:8551850 8940144 Kdr kinase insert domain receptor gene DOID:1612 breast cancer ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:tumor:increased activated KDR in mammary carcinomas vs adjacent normal tissues PMID:10371349|REF_RGD_ID:2291951 8940144 Kdr kinase insert domain receptor gene DOID:1679 cystitis ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:21412823|REF_RGD_ID:5684428 8940144 Kdr kinase insert domain receptor gene DOID:1749 squamous cell carcinoma ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:16251423|REF_RGD_ID:8551848 8940144 Kdr kinase insert domain receptor gene DOID:1793 pancreatic cancer ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12385004 8940144 Kdr kinase insert domain receptor gene DOID:1793 pancreatic cancer ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:19930156|REF_RGD_ID:5684397 8940144 Kdr kinase insert domain receptor gene DOID:1875 impotence ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:16422887|REF_RGD_ID:5684417 8940144 Kdr kinase insert domain receptor gene DOID:1909 melanoma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:21730877|REF_RGD_ID:8552360 8940144 Kdr kinase insert domain receptor gene DOID:1909 melanoma disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression, altered expression:skin: PMID:15714119|REF_RGD_ID:8551851 8940144 Kdr kinase insert domain receptor gene DOID:1909 melanoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:12415261|REF_RGD_ID:126925192 8940144 Kdr kinase insert domain receptor gene DOID:1936 atherosclerosis treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:17303776|REF_RGD_ID:8551768 8940144 Kdr kinase insert domain receptor gene DOID:2256 osteochondrodysplasia ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17954590 8940144 Kdr kinase insert domain receptor gene DOID:2316 brain ischemia ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:18951929|REF_RGD_ID:5684407 8940144 Kdr kinase insert domain receptor gene DOID:2349 arteriosclerosis ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:15665766|REF_RGD_ID:1581706 8940144 Kdr kinase insert domain receptor gene DOID:2349 arteriosclerosis ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:16873710|REF_RGD_ID:1581713 8940144 Kdr kinase insert domain receptor gene DOID:2526 prostate adenocarcinoma ISO RGD:2965 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:20808233|REF_RGD_ID:5684541 8940144 Kdr kinase insert domain receptor gene DOID:2526 prostate adenocarcinoma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:tumor:relative to benign prostatic hypertrophy (BPH) tissue PMID:17491265|REF_RGD_ID:2291925 8940144 Kdr kinase insert domain receptor gene DOID:264 hemangiopericytoma ISO RGD:731018 D RGD:9068941 20221110 RGD mRNA:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 8940144 Kdr kinase insert domain receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:18645275|REF_RGD_ID:2301755 8940144 Kdr kinase insert domain receptor gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD transitional cell cancer of the bladder; protein:increased expression:tumor:correlated with stage (p=0.05) and invasion into muscle (p<0.01) PMID:16515971|REF_RGD_ID:2291934 8940144 Kdr kinase insert domain receptor gene DOID:2773 contact dermatitis ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:15500639|REF_RGD_ID:5684424 8940144 Kdr kinase insert domain receptor gene DOID:2841 asthma ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:20921519|REF_RGD_ID:5684385 8940144 Kdr kinase insert domain receptor gene DOID:2841 asthma ISO RGD:731018 D RGD:9068941 20200609 RGD associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa: PMID:17651148|REF_RGD_ID:8551771 8940144 Kdr kinase insert domain receptor gene DOID:289 endometriosis ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:20056215|REF_RGD_ID:5135061 8940144 Kdr kinase insert domain receptor gene DOID:299 adenocarcinoma ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 8940144 Kdr kinase insert domain receptor gene DOID:3042 allergic contact dermatitis ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA:protein:skin: PMID:7876550|REF_RGD_ID:7421586 8940144 Kdr kinase insert domain receptor gene DOID:3068 glioblastoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:26325365|REF_RGD_ID:11529678 8940144 Kdr kinase insert domain receptor gene DOID:3070 high grade glioma disease_progression ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:20501615|REF_RGD_ID:5684393 8940144 Kdr kinase insert domain receptor gene DOID:3070 high grade glioma severity ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:10506722|REF_RGD_ID:5684425 8940144 Kdr kinase insert domain receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15681497|REF_RGD_ID:5684420 8940144 Kdr kinase insert domain receptor gene DOID:3179 inverted papilloma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:inferior nasal concha: PMID:12541477|REF_RGD_ID:8551779 8940144 Kdr kinase insert domain receptor gene DOID:3192 neurilemmoma ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain: PMID:17570036|REF_RGD_ID:8552334 8940144 Kdr kinase insert domain receptor gene DOID:3307 teratoma ISO RGD:731018 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 8940144 Kdr kinase insert domain receptor gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731018 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:16410746|REF_RGD_ID:1580568 8940144 Kdr kinase insert domain receptor gene DOID:3328 temporal lobe epilepsy ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 8940144 Kdr kinase insert domain receptor gene DOID:3459 breast carcinoma no_association ISO RGD:731018 D RGD:9068941 20200609 RGD protein::tumor:no correlation with survival, metastasis or relapse in univariate analysis PMID:15753992|REF_RGD_ID:2291952 8940144 Kdr kinase insert domain receptor gene DOID:3459 breast carcinoma severity ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:tumor:correlated with nuclear grade of invasive carcinomas (p=0.003) PMID:12378509|REF_RGD_ID:2291950 8940144 Kdr kinase insert domain receptor gene DOID:3512 neurofibrosarcoma ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:10554031|REF_RGD_ID:8552377 8940144 Kdr kinase insert domain receptor gene DOID:3905 lung carcinoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:16763608|PMID:20118536|REF_RGD_ID:126925177|REF_RGD_ID:126925190 8940144 Kdr kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:731018 D RGD:9068941 20210514 RGD protein:increased expression:plasma PMID:21481963|REF_RGD_ID:126925199 8940144 Kdr kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:CNVs PMID:21724587|REF_RGD_ID:126908001 8940144 Kdr kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210514 RGD PMID:16697074|REF_RGD_ID:126925189 8940144 Kdr kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210514 RGD DNA, protein:CNVs, increased expression:lung PMID:25561764|REF_RGD_ID:126925188 8940144 Kdr kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210514 RGD DNA:SNP:promoter:���906T>C (rs2071559) (human) PMID:25975224|REF_RGD_ID:126925198 8940144 Kdr kinase insert domain receptor gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:12415261|REF_RGD_ID:126925192 8940144 Kdr kinase insert domain receptor gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:731018 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 8940144 Kdr kinase insert domain receptor gene DOID:418 systemic scleroderma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:decreased expression:bone marrow: PMID:22271757|REF_RGD_ID:8551843 8940144 Kdr kinase insert domain receptor gene DOID:418 systemic scleroderma ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:21865112|REF_RGD_ID:8552335 8940144 Kdr kinase insert domain receptor gene DOID:4448 macular degeneration ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:21731737|REF_RGD_ID:5684426 8940144 Kdr kinase insert domain receptor gene DOID:4448 macular degeneration treatment ISO RGD:731018 D RGD:9068941 20200609 RGD DNA:SNPs:: rs4576072,rs6828477(human) PMID:24365177|REF_RGD_ID:8549717 8940144 Kdr kinase insert domain receptor gene DOID:4449 macular retinal edema ISO RGD:731018 D RGD:9068941 20200609 RGD associated with retinal vein occlusion;protein:increased expression:vitreous humor PMID:23411880|REF_RGD_ID:8549772 8940144 Kdr kinase insert domain receptor gene DOID:4450 renal cell carcinoma ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:17332933|PMID:17653245|REF_RGD_ID:2301756|REF_RGD_ID:8552363 8940144 Kdr kinase insert domain receptor gene DOID:4450 renal cell carcinoma treatment ISO RGD:10836 D RGD:9068941 20210514 RGD PMID:16763608|REF_RGD_ID:126925190 8940144 Kdr kinase insert domain receptor gene DOID:4511 breast angiosarcoma ISO RGD:731018 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:32123305|REF_RGD_ID:151665102 8940144 Kdr kinase insert domain receptor gene DOID:4676 uremia ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 8940144 Kdr kinase insert domain receptor gene DOID:4905 pancreatic carcinoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:17414626|REF_RGD_ID:126848809 8940144 Kdr kinase insert domain receptor gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:731018 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs11941492) (human) PMID:21472143|REF_RGD_ID:126925218 8940144 Kdr kinase insert domain receptor gene DOID:5082 liver cirrhosis disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD associated with Chronic Hepatitis PMID:27323788|REF_RGD_ID:126908000 8940144 Kdr kinase insert domain receptor gene DOID:5419 schizophrenia ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21647420 8940144 Kdr kinase insert domain receptor gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:2965 D RGD:9068941 20210514 RGD PMID:25151950|REF_RGD_ID:126925217 8940144 Kdr kinase insert domain receptor gene DOID:5426 primary ovarian insufficiency ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:24728327|PMID:25741868 8940144 Kdr kinase insert domain receptor gene DOID:5844 myocardial infarction ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:16698275|REF_RGD_ID:1581717 8940144 Kdr kinase insert domain receptor gene DOID:5844 myocardial infarction treatment ISO RGD:2965 D RGD:9068941 20210514 RGD PMID:25936512|REF_RGD_ID:126925214 8940144 Kdr kinase insert domain receptor gene DOID:6039 uveal melanoma disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:21984395|REF_RGD_ID:8549718 8940144 Kdr kinase insert domain receptor gene DOID:630 genetic disease ISO RGD:731018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8940144 Kdr kinase insert domain receptor gene DOID:684 hepatocellular carcinoma ISO RGD:731018 D RGD:9068941 20210507 RGD associated with alcoholic liver cirrhosis;DNA:SNP: :1416A>T (human) PMID:24445728|REF_RGD_ID:126848814 8940144 Kdr kinase insert domain receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD protein:decreased expression:liver PMID:25333267|REF_RGD_ID:126848812 8940144 Kdr kinase insert domain receptor gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210507 RGD protein:increased expression:liver PMID:19177438|REF_RGD_ID:126848810 8940144 Kdr kinase insert domain receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD PMID:23660204|REF_RGD_ID:126848813 8940144 Kdr kinase insert domain receptor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNPs: :rs1870377, rs2071559, rs2305948 (human) PMID:25182707|REF_RGD_ID:126848806 8940144 Kdr kinase insert domain receptor gene DOID:687 hepatoblastoma ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 8940144 Kdr kinase insert domain receptor gene DOID:7736 retinal telangiectasia ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression,increased phosphorylation:eye: PMID:23221067|REF_RGD_ID:8549759 8940144 Kdr kinase insert domain receptor gene DOID:8577 ulcerative colitis ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19013462|REF_RGD_ID:5684406 8940144 Kdr kinase insert domain receptor gene DOID:8717 decubitus ulcer ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:12692851|REF_RGD_ID:8551845 8940144 Kdr kinase insert domain receptor gene DOID:8778 Crohn's disease ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19013462|REF_RGD_ID:5684406 8940144 Kdr kinase insert domain receptor gene DOID:8893 psoriasis ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:20071151|REF_RGD_ID:8552376 8940144 Kdr kinase insert domain receptor gene DOID:8893 psoriasis treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:23732650|REF_RGD_ID:8552361 8940144 Kdr kinase insert domain receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, astrocyte, macrophage PMID:17409380|REF_RGD_ID:5684414 8940144 Kdr kinase insert domain receptor gene DOID:9000081 Lymphatic Metastasis treatment ISO RGD:10836 D RGD:9068941 20200609 RGD associated with Squamous Cell Carcinoma of the Tongue PMID:19380367|REF_RGD_ID:8551769 8940144 Kdr kinase insert domain receptor gene DOID:9000099 Experimental Colitis ISO RGD:10836 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19013462|REF_RGD_ID:5684406 8940144 Kdr kinase insert domain receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:21472143|PMID:35917945 8940144 Kdr kinase insert domain receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:19888452|REF_RGD_ID:5684399 8940144 Kdr kinase insert domain receptor gene DOID:9000528 Coronary Disease ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:16139132|REF_RGD_ID:2313728 8940144 Kdr kinase insert domain receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731018 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell PMID:17465216|REF_RGD_ID:2301757 8940144 Kdr kinase insert domain receptor gene DOID:9000998 Brain Injuries ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:19733172|REF_RGD_ID:5684402 8940144 Kdr kinase insert domain receptor gene DOID:9000998 Brain Injuries ISO RGD:2965 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:21307798|REF_RGD_ID:5684382 8940144 Kdr kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:22997228|REF_RGD_ID:8549738 8940144 Kdr kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:19085383|REF_RGD_ID:8549713 8940144 Kdr kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:12937991|PMID:15249365|REF_RGD_ID:8549716|REF_RGD_ID:8549747 8940144 Kdr kinase insert domain receptor gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:18436847|REF_RGD_ID:8549741 8940144 Kdr kinase insert domain receptor gene DOID:9001472 Nasal Polyps ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:inferior nasal concha: PMID:12515274|REF_RGD_ID:8551781 8940144 Kdr kinase insert domain receptor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956651 8940144 Kdr kinase insert domain receptor gene DOID:9001795 Lathyrism ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:20058324|REF_RGD_ID:5684396 8940144 Kdr kinase insert domain receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18630688 8940144 Kdr kinase insert domain receptor gene DOID:9002189 High Myopia ISO RGD:731018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe Myopia PMID:26422291|PMID:28492532 8940144 Kdr kinase insert domain receptor gene DOID:9002265 Kidney Neoplasms ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:12036917|REF_RGD_ID:2301759 8940144 Kdr kinase insert domain receptor gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17888890 8940144 Kdr kinase insert domain receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:epithelial ovarian carcinoma cells PMID:16835828|REF_RGD_ID:2291926 8940144 Kdr kinase insert domain receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35917945 8940144 Kdr kinase insert domain receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:19233483|REF_RGD_ID:5684404 8940144 Kdr kinase insert domain receptor gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:17349140|REF_RGD_ID:8549715 8940144 Kdr kinase insert domain receptor gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:15951738|REF_RGD_ID:1581593 8940144 Kdr kinase insert domain receptor gene DOID:9002928 Colonic Neoplasms ISO RGD:10836 D RGD:9068941 20200609 RGD associated with Colitis;mRNA, protein:increased expression:colon PMID:21098094|REF_RGD_ID:5684533 8940144 Kdr kinase insert domain receptor gene DOID:9003204 Neovascularization, Pathologic ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 8940144 Kdr kinase insert domain receptor gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:11218896|REF_RGD_ID:2301761 8940144 Kdr kinase insert domain receptor gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:21277350|REF_RGD_ID:5684383 8940144 Kdr kinase insert domain receptor gene DOID:9003871 Venous Thrombosis ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26600200 8940144 Kdr kinase insert domain receptor gene DOID:9004009 Reperfusion Injury ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17402857|REF_RGD_ID:5684415 8940144 Kdr kinase insert domain receptor gene DOID:9004009 Reperfusion Injury ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 8940144 Kdr kinase insert domain receptor gene DOID:9004059 Eye Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35917945 8940144 Kdr kinase insert domain receptor gene DOID:9004090 Tufted Angioma ISO RGD:731018 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Tufted angioma PMID:25741868|PMID:26422291|PMID:28492532 8940144 Kdr kinase insert domain receptor gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:tumor:pKDR expression associated with poor overall survival (P=0.009) PMID:16557278|REF_RGD_ID:2291929 8940144 Kdr kinase insert domain receptor gene DOID:9004283 Transplant Rejection ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:22997228|REF_RGD_ID:8549738 8940144 Kdr kinase insert domain receptor gene DOID:9004610 Acute Lung Injury ISO RGD:2965 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:decreased expression:lung PMID:21528367|REF_RGD_ID:5684427 8940144 Kdr kinase insert domain receptor gene DOID:9005172 Lung Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35917945 8940144 Kdr kinase insert domain receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2965 D RGD:9068941 20200609 RGD inhibition prevents DMBA-induced atypical ductal hyperplasia and carcinoma in situ PMID:15170218|REF_RGD_ID:2291936 8940144 Kdr kinase insert domain receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:19888452|REF_RGD_ID:5684399 8940144 Kdr kinase insert domain receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10836 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 8940144 Kdr kinase insert domain receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:16741021|REF_RGD_ID:2313724 8940144 Kdr kinase insert domain receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:22121831|REF_RGD_ID:5684538 8940144 Kdr kinase insert domain receptor gene DOID:9005708 Hand-Foot Syndrome treatment ISO RGD:731018 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.H472Q(human) PMID:20630084|REF_RGD_ID:8552374 8940144 Kdr kinase insert domain receptor gene DOID:9005968 Neuralgia ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:20705122|REF_RGD_ID:5684389 8940144 Kdr kinase insert domain receptor gene DOID:9007096 Stroke ISO RGD:2965 D RGD:9068941 20200609 RGD PMID:20101028|REF_RGD_ID:5684395 8940144 Kdr kinase insert domain receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:731018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8940144 Kdr kinase insert domain receptor gene DOID:9007715 Endometrial Neoplasms ISO RGD:731018 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:12485477|REF_RGD_ID:2301252 8940144 Kdr kinase insert domain receptor gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:731018 D RGD:9068941 20200609 RGD PMID:11745191|REF_RGD_ID:2301760 8940144 Kdr kinase insert domain receptor gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:731018 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity of mucosa: PMID:17651148|REF_RGD_ID:8551771 8940144 Kdr kinase insert domain receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20346928|PMID:35917945 8940144 Kdr kinase insert domain receptor gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:731018 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Capillary infantile hemangioma PMID:11807987|PMID:18931684|PMID:24033266|PMID:24728327|PMID:25741868 8940144 Kdr kinase insert domain receptor gene DOID:9008660 Infantile Capillary Hemangioma susceptibility ISO RGD:731018 D RGD:7240710 20240313 OMIM 8940144 Kdr kinase insert domain receptor gene DOID:9008821 Otitis Media with Effusion ISO RGD:2965 D RGD:9068941 20200609 RGD mRNA:increased expression:mucosa of the middle ear; PMID:12875575|REF_RGD_ID:8547977 8940144 Kdr kinase insert domain receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731018 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:20135347|PMID:35917945 8940144 Kdr kinase insert domain receptor gene DOID:9008939 Breast Neoplasms treatment ISO RGD:10836 D RGD:9068941 20200609 RGD PMID:14511401|REF_RGD_ID:8551844 8940144 Kdr kinase insert domain receptor gene DOID:9256 colorectal cancer no_association ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNPs:exons:rs1870377, rs2305948 (human) PMID:22182247|REF_RGD_ID:126848807 8940144 Kdr kinase insert domain receptor gene DOID:9256 colorectal cancer treatment ISO RGD:731018 D RGD:9068941 20210507 RGD DNA:SNPs:promoter:rs10013228, rs2071559 (human) PMID:22182247|REF_RGD_ID:126848807 8940144 Kdr kinase insert domain receptor gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731018 D RGD:9068941 20210514 RGD PMID:16480593|REF_RGD_ID:126925191 8940144 Kdr kinase insert domain receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:731018 D RGD:9068941 20200609 RGD protein:decreased expression:skin, blood vessel PMID:17898089|REF_RGD_ID:5684411 8940189 Idua alpha-L-iduronidase gene DOID:0060222 Scheie syndrome ISO RGD:1322129 D RGD:7240710 20180207 OMIM 8940189 Idua alpha-L-iduronidase gene DOID:0060222 Scheie syndrome ISO RGD:1322129 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome PMID:10215409|PMID:10607946|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11735025|PMID:11903343|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:1550122|PMID:15862278|PMID:16435195|PMID:16438163|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20301341|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21639919|PMID:2170400|PMID:21831683|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23786846|PMID:23837464|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:24875751|PMID:2522450|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27896125|PMID:28492532|PMID:28676128|PMID:28752568|PMID:29120458|PMID:29393969|PMID:29654546|PMID:30809705|PMID:31194252|PMID:31319225|PMID:32188113|PMID:33073008|PMID:33517895|PMID:35141277|PMID:4112371|PMID:4221470|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8318992|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 8940189 Idua alpha-L-iduronidase gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:1322129 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:25741868|PMID:27210743|PMID:28492532|PMID:30586318|PMID:36719378 8940189 Idua alpha-L-iduronidase gene DOID:0111389 mucopolysaccharidosis Ih/s ISO RGD:1322129 D RGD:7240710 20191030 OMIM 8940189 Idua alpha-L-iduronidase gene DOID:0111389 mucopolysaccharidosis Ih/s ISO RGD:1322129 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S PMID:10215409|PMID:10466419|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15521993|PMID:15862278|PMID:16199547|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17570076|PMID:17576681|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20301341|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:21734815|PMID:21831683|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23786846|PMID:23837464|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:24875751|PMID:25741868|PMID:26260077|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27520059|PMID:27896125|PMID:28492532|PMID:28676128|PMID:28752568|PMID:29282708|PMID:29393969|PMID:29654546|PMID:29801497|PMID:30093709|PMID:30442156|PMID:30809705|PMID:31194252|PMID:32188113|PMID:32432561|PMID:33073008|PMID:33098355|PMID:33301762|PMID:33517895|PMID:35787971|PMID:4221470|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8328452|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109 8940189 Idua alpha-L-iduronidase gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:1322129 D RGD:7240710 20191030 OMIM 8940189 Idua alpha-L-iduronidase gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:1322129 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH PMID:10215409|PMID:10466419|PMID:10607946|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11735025|PMID:11903343|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:12796790|PMID:1301196|PMID:1301941|PMID:14516901|PMID:14559116|PMID:1505961|PMID:15081804|PMID:15300847|PMID:1550122|PMID:15521993|PMID:15862278|PMID:16188808|PMID:16199547|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17570076|PMID:17576681|PMID:17606547|PMID:18463126|PMID:18792977|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20217237|PMID:20301341|PMID:21253827|PMID:21393040|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:2170400|PMID:21734815|PMID:21831683|PMID:21963080|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23210910|PMID:23430557|PMID:23430803|PMID:23465405|PMID:23786846|PMID:23837464|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24767253|PMID:24798265|PMID:24875751|PMID:25009127|PMID:25098213|PMID:2522450|PMID:25256405|PMID:25525159|PMID:25557439|PMID:25558755|PMID:25614311|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27238910|PMID:27392569|PMID:27511503|PMID:27520059|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28302345|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:28844463|PMID:29095814|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29620724|PMID:29654546|PMID:29801497|PMID:29843745|PMID:29906569|PMID:29976218|PMID:30083803|PMID:30442156|PMID:30809705|PMID:30903511|PMID:31133280|PMID:31194252|PMID:31236806|PMID:31298590|PMID:31678774|PMID:31991612|PMID:32188113|PMID:32432561|PMID:33073008|PMID:33301762|PMID:33517895|PMID:33686258|PMID:34813777|PMID:4112371|PMID:4221470|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8019572|PMID:8213840|PMID:8318992|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8554071|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109 8940189 Idua alpha-L-iduronidase gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1322129 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:12559846|PMID:18792977|PMID:25741868|PMID:28492532|PMID:28676128 8940189 Idua alpha-L-iduronidase gene DOID:10754 otitis media ISO RGD:1322130 D RGD:9068941 20220825 MouseDO OMIM:166760 8940189 Idua alpha-L-iduronidase gene DOID:10808 gastric ulcer ISO RGD:1310943 D RGD:9068941 20200609 RGD PMID:3713687|REF_RGD_ID:12910841 8940189 Idua alpha-L-iduronidase gene DOID:114 heart disease treatment ISO RGD:1322130 D RGD:9068941 20230629 RGD associated with mucopolysaccharidosis I PMID:33145772|REF_RGD_ID:329902066 8940189 Idua alpha-L-iduronidase gene DOID:12798 mucopolysaccharidosis ISO RGD:1322129 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: IDUA pseudodeficiency | ClinVar Annotator: match by term: Mucopolysaccharidoses PMID:10215409|PMID:11159948|PMID:11735025|PMID:1301941|PMID:1505961|PMID:18796143|PMID:19396826|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24314423|PMID:24368159|PMID:25741868|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7951228|PMID:8401515|PMID:8554071|PMID:9427149|PMID:9787109 8940189 Idua alpha-L-iduronidase gene DOID:12799 mucopolysaccharidosis II ISO RGD:1322129 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II PMID:25741868 8940189 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I ISO RGD:1322129 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: IDUA-related condition | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:10215409|PMID:10466419|PMID:10607946|PMID:10735634|PMID:10738517|PMID:10911525|PMID:11159948|PMID:11555618|PMID:11735025|PMID:11903343|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:12796790|PMID:1301196|PMID:1301941|PMID:14516901|PMID:14559116|PMID:1505961|PMID:15081804|PMID:15300847|PMID:1550122|PMID:15521993|PMID:15862278|PMID:16188808|PMID:16199547|PMID:1627351|PMID:16435195|PMID:16435211|PMID:16438163|PMID:17407067|PMID:17570076|PMID:17576681|PMID:17606547|PMID:18463126|PMID:18792977|PMID:18796143|PMID:19396826|PMID:19748810|PMID:19751987|PMID:19839758|PMID:20026495|PMID:20217237|PMID:20301341|PMID:21176924|PMID:21253827|PMID:21364962|PMID:21393040|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21521498|PMID:21624210|PMID:21639919|PMID:2170400|PMID:21734815|PMID:21831683|PMID:21963080|PMID:22074387|PMID:22306676|PMID:22976768|PMID:23084433|PMID:23430557|PMID:23430803|PMID:23465405|PMID:23757202|PMID:23786846|PMID:23837464|PMID:23959878|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24102521|PMID:24314423|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24767253|PMID:24781210|PMID:24798265|PMID:24875751|PMID:25009127|PMID:25098213|PMID:25102484|PMID:2522450|PMID:25256405|PMID:25525159|PMID:25557439|PMID:25558755|PMID:25614311|PMID:25741868|PMID:26260077|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27238910|PMID:27392569|PMID:27511503|PMID:27520059|PMID:27766162|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28302345|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:28844463|PMID:29095814|PMID:29120458|PMID:29140481|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29620724|PMID:29654546|PMID:29705972|PMID:29801497|PMID:29843745|PMID:29906569|PMID:29947050|PMID:29976218|PMID:30083803|PMID:30093709|PMID:30442156|PMID:30755342|PMID:30809705|PMID:30903511|PMID:31133280|PMID:31194252|PMID:31236806|PMID:31298590|PMID:31319022|PMID:31341245|PMID:31386236|PMID:31400021|PMID:31678774|PMID:31758674|PMID:31991612|PMID:32188113|PMID:32432561|PMID:32670797|PMID:33073008|PMID:33098355|PMID:33198351|PMID:33301762|PMID:33389473|PMID:33517895|PMID:33686258|PMID:34148116|PMID:34813777|PMID:34833038|PMID:35141277|PMID:35787971|PMID:36265282|PMID:4112371|PMID:4221470|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8019572|PMID:8213840|PMID:8318992|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8554071|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9536098|PMID:9748610|PMID:9787109 8940189 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322129 D RGD:9068941 20230727 RGD PMID:11172140|PMID:12948739|PMID:15126990|PMID:15128896|PMID:15194053|PMID:16860035|PMID:17407189|PMID:17606547|PMID:18523448|PMID:24100243|PMID:25597593|REF_RGD_ID:12910497|REF_RGD_ID:12910499|REF_RGD_ID:12910502|REF_RGD_ID:12910503|REF_RGD_ID:12910510|REF_RGD_ID:12910716|REF_RGD_ID:12910719|REF_RGD_ID:12910720|REF_RGD_ID:329961545|REF_RGD_ID:329961548|REF_RGD_ID:329961554 8940189 Idua alpha-L-iduronidase gene DOID:12802 mucopolysaccharidosis I treatment ISO RGD:1322130 D RGD:9068941 20200609 RGD PMID:21667973|REF_RGD_ID:12910508 8940189 Idua alpha-L-iduronidase gene DOID:1856 cherubism ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8940189 Idua alpha-L-iduronidase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1322129 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism PMID:11735025|PMID:21176924|PMID:21480867|PMID:25741868|PMID:28492532|PMID:30755342|PMID:7550242 8940189 Idua alpha-L-iduronidase gene DOID:3082 interstitial lung disease ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:10215409|PMID:11159948|PMID:11735025|PMID:1301941|PMID:1505961|PMID:18796143|PMID:19396826|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24314423|PMID:24368159|PMID:25741868|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7951228|PMID:8401515|PMID:9427149|PMID:9787109 8940189 Idua alpha-L-iduronidase gene DOID:585 nephrolithiasis ISO RGD:1322129 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:30586318|PMID:32432561|PMID:36719378 8940189 Idua alpha-L-iduronidase gene DOID:630 genetic disease ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10738517|PMID:10911525|PMID:11735025|PMID:12559846|PMID:1301196|PMID:1301941|PMID:16435195|PMID:19748810|PMID:21394825|PMID:21480867|PMID:21521498|PMID:21639919|PMID:22074387|PMID:23465405|PMID:23786846|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24798265|PMID:25741868|PMID:27146977|PMID:27196898|PMID:28492532|PMID:28676128|PMID:28752568|PMID:30903511|PMID:33686258|PMID:7951228 8940189 Idua alpha-L-iduronidase gene DOID:630 genetic disease ISO RGD:1322129 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10738517|PMID:10911525|PMID:11735025|PMID:12559846|PMID:1301196|PMID:1301941|PMID:15300847|PMID:16435195|PMID:19748810|PMID:21394825|PMID:21521498|PMID:21639919|PMID:22074387|PMID:23465405|PMID:23786846|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24798265|PMID:25741868|PMID:27146977|PMID:27196898|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:30903511|PMID:33686258|PMID:7951228 8940189 Idua alpha-L-iduronidase gene DOID:630 genetic disease ISO RGD:1322129 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10215409|PMID:10738517|PMID:10911525|PMID:11735025|PMID:12509712|PMID:12559846|PMID:1301196|PMID:1301941|PMID:15300847|PMID:16435195|PMID:16438163|PMID:19748810|PMID:19751987|PMID:20301341|PMID:21394825|PMID:21480867|PMID:21521498|PMID:21639919|PMID:22074387|PMID:22976768|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24102521|PMID:24368159|PMID:24480078|PMID:24698225|PMID:24798265|PMID:25741868|PMID:26825088|PMID:27146977|PMID:27196898|PMID:27511503|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28676128|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29393969|PMID:29654546|PMID:30809705|PMID:30903511|PMID:31194252|PMID:33073008|PMID:33389473|PMID:33517895|PMID:33686258|PMID:4221470|PMID:7951228|PMID:8680403 8940189 Idua alpha-L-iduronidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1310943 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:6875476|REF_RGD_ID:12910840 8940189 Idua alpha-L-iduronidase gene DOID:9001793 Generalized Epilepsy ISO RGD:1322129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 8940189 Idua alpha-L-iduronidase gene DOID:9004912 Hyperoxaluria ISO RGD:1322129 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hyperoxaluria PMID:25741868|PMID:28492532 8940189 Idua alpha-L-iduronidase gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1322129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 8940206 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:0080600 COVID-19 ISO RGD:1314222 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8940206 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:0111546 Currarino syndrome ISO RGD:1314222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8940206 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1314222 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 8940206 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:5844 myocardial infarction treatment ISO RGD:1314223 D RGD:9068941 20200609 RGD PMID:24692845|REF_RGD_ID:13801194 8940206 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:630 genetic disease ISO RGD:1314222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940206 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:9003631 Diastolic Dysfunction ISO RGD:1305909 D RGD:9068941 20200609 RGD associated with obesity;mRNA, protein:decreased expression:myocardium PMID:26790384|REF_RGD_ID:13801193 8940206 Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:1305909 D RGD:9068941 20230831 RGD associated with obesity PMID:35257523|REF_RGD_ID:401794445 8940220 Mrpl10 mitochondrial ribosomal protein L10 gene DOID:630 genetic disease ISO RGD:1315061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:0070004 myeloid neoplasm ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:0070004 myeloid neoplasm ISO RGD:1322216 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:9044825|REF_RGD_ID:10450608 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:25741868|PMID:27192671 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:1037 lymphoid leukemia ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:1062 Fanconi syndrome ISO RGD:1322216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:10754 otitis media ISO RGD:1322217 D RGD:9068941 20200609 RGD PMID:26611891|REF_RGD_ID:11054805 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:10754 otitis media ISO RGD:1322217 D RGD:9068941 20220825 MouseDO OMIM:166760 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:12450 pancytopenia ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:1588 thrombocytopenia ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:1788 peritoneal mesothelioma ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant peritoneal mesothelioma 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:2213 hemorrhagic disease ISO RGD:1322216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532|PMID:32935436 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:5426 primary ovarian insufficiency ISO RGD:1322216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:630 genetic disease ISO RGD:1322216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:8692 myeloid leukemia ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:9002720 Splenomegaly ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:9002762 Ovarian Neoplasms ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:9002928 Colonic Neoplasms ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20512145 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:9005539 Familial Prostate Cancer ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322216 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:37149759 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:9007517 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 ISO RGD:1322216 D RGD:7240710 20180130 OMIM 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:9007517 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 ISO RGD:1322216 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MECOM-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 PMID:17576681|PMID:20091385|PMID:25741868|PMID:26581901|PMID:28492532|PMID:29146883|PMID:29519864|PMID:34355501|PMID:9536098 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:9008939 Breast Neoplasms ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770046 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:9119 acute myeloid leukemia ISO RGD:1322216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30472098 8940229 Mecom MDS1 and EVI1 complex locus gene DOID:9827 radioulnar synostosis ISO RGD:1322216 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Radioulnar synostosis 8940274 Rnf220 ring finger protein 220 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8940274 Rnf220 ring finger protein 220 gene DOID:0070397 hypomyelinating leukodystrophy 23 ISO RGD:1605659 D RGD:7240710 20220112 OMIM 8940274 Rnf220 ring finger protein 220 gene DOID:0070397 hypomyelinating leukodystrophy 23 ISO RGD:1605659 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy PMID:10881263|PMID:33964137|PMID:36083980 8940274 Rnf220 ring finger protein 220 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8940274 Rnf220 ring finger protein 220 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8940274 Rnf220 ring finger protein 220 gene DOID:630 genetic disease ISO RGD:1605659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940300 Srrd SRR1 domain containing gene DOID:0110271 cataract 23 ISO RGD:1606069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 8940300 Srrd SRR1 domain containing gene DOID:630 genetic disease ISO RGD:1606069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940320 Bst1 bone marrow stromal cell antigen 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1342632 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8940320 Bst1 bone marrow stromal cell antigen 1 gene DOID:14330 Parkinson's disease ISO RGD:1342632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915576 8940320 Bst1 bone marrow stromal cell antigen 1 gene DOID:630 genetic disease ISO RGD:1342632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940320 Bst1 bone marrow stromal cell antigen 1 gene DOID:850 lung disease ISO RGD:1342632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 8940352 Sap30bp SAP30 binding protein gene DOID:5419 schizophrenia ISO RGD:1602722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8940352 Sap30bp SAP30 binding protein gene DOID:630 genetic disease ISO RGD:1602722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940370 Tll2 tolloid like 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1312462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:25741868 8940370 Tll2 tolloid like 2 gene DOID:630 genetic disease ISO RGD:1312462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940409 Azin1 antizyme inhibitor 1 gene DOID:0111590 Cohen syndrome ISO RGD:731863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8940409 Azin1 antizyme inhibitor 1 gene DOID:11339 pneumocystosis ISO RGD:61934 D RGD:9068941 20200609 RGD mRNA:increased expression:alveolar macrophage PMID:19158080|REF_RGD_ID:14700806 8940409 Azin1 antizyme inhibitor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731863 D RGD:9068941 20200609 RGD PMID:24302582|REF_RGD_ID:14700707 8940409 Azin1 antizyme inhibitor 1 gene DOID:5082 liver cirrhosis ISO RGD:731863 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA SNP: :rs2679757 (human) PMID:21586232|REF_RGD_ID:14700702 8940409 Azin1 antizyme inhibitor 1 gene DOID:5082 liver cirrhosis ISO RGD:731863 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma;RNA:increased editing:liver PMID:23291631|REF_RGD_ID:14700705 8940409 Azin1 antizyme inhibitor 1 gene DOID:630 genetic disease ISO RGD:731863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940409 Azin1 antizyme inhibitor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731863 D RGD:9068941 20200609 RGD RNA:increased editing:liver PMID:23291631|REF_RGD_ID:14700705 8940409 Azin1 antizyme inhibitor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731863 D RGD:9068941 20200609 RGD associated with colorectal cancer;RNA:increased editing:colorectum PMID:29925690|REF_RGD_ID:14700704 8940409 Azin1 antizyme inhibitor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731863 D RGD:9068941 20200609 RGD associated with stomach cancer;RNA:increased editing:stomach PMID:30563560|REF_RGD_ID:14700703 8940409 Azin1 antizyme inhibitor 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:61934 D RGD:9068941 20200609 RGD PMID:26751697|REF_RGD_ID:14700801 8940434 Anapc7 anaphase promoting complex subunit 7 gene DOID:0050888 syndromic intellectual disability ISO RGD:1323638 D RGD:9068941 20220825 MouseDO 8940434 Anapc7 anaphase promoting complex subunit 7 gene DOID:630 genetic disease ISO RGD:1344930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940434 Anapc7 anaphase promoting complex subunit 7 gene DOID:9002328 FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME ISO RGD:1344930 D RGD:7240710 20220316 OMIM 8940434 Anapc7 anaphase promoting complex subunit 7 gene DOID:9002328 FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME ISO RGD:1344930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ferguson-Bonni neurodevelopmental syndrome PMID:25741868|PMID:34942119 8940451 Agfg2 ArfGAP with FG repeats 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8940451 Agfg2 ArfGAP with FG repeats 2 gene DOID:630 genetic disease ISO RGD:1315293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940473 Mta2 metastasis associated 1 family member 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1315535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8940473 Mta2 metastasis associated 1 family member 2 gene DOID:1059 intellectual disability ISO RGD:1315535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8940473 Mta2 metastasis associated 1 family member 2 gene DOID:289 endometriosis ISO RGD:1315535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8940473 Mta2 metastasis associated 1 family member 2 gene DOID:630 genetic disease ISO RGD:1315535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940473 Mta2 metastasis associated 1 family member 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1315536 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8940499 Scube3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1312575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8940499 Scube3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 ISO RGD:1312575 D RGD:7240710 20210303 OMIM 8940499 Scube3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 ISO RGD:1312575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 PMID:25741868|PMID:33308444 8940499 Scube3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:10283 prostate cancer ISO RGD:1312575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8940499 Scube3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:630 genetic disease ISO RGD:1312575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940499 Scube3 signal peptide, CUB domain and EGF like domain containing 3 gene DOID:9007661 Dwarfism ISO RGD:1312575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:33308444 8940528 Msrb3 methionine sulfoxide reductase B3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:19650862|PMID:21185009|PMID:30303587 8940528 Msrb3 methionine sulfoxide reductase B3 gene DOID:0110523 autosomal recessive nonsyndromic deafness 74 ISO RGD:1351511 D RGD:7240710 20180130 OMIM 8940528 Msrb3 methionine sulfoxide reductase B3 gene DOID:0110523 autosomal recessive nonsyndromic deafness 74 ISO RGD:1351511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 74 PMID:19650862|PMID:21185009|PMID:25741868|PMID:30303587 8940528 Msrb3 methionine sulfoxide reductase B3 gene DOID:630 genetic disease ISO RGD:1351511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532 8940528 Msrb3 methionine sulfoxide reductase B3 gene DOID:9004538 Hearing Loss ISO RGD:1351511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:24033266 8940539 Tcea2 transcription elongation factor A2 gene DOID:630 genetic disease ISO RGD:731353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940539 Tcea2 transcription elongation factor A2 gene DOID:9119 acute myeloid leukemia ISO RGD:731353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8940560 Col8a2 collagen type VIII alpha 2 chain gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8940560 Col8a2 collagen type VIII alpha 2 chain gene DOID:0110856 posterior polymorphous corneal dystrophy 2 ISO RGD:1313058 D RGD:7240710 20180130 OMIM 8940560 Col8a2 collagen type VIII alpha 2 chain gene DOID:0110856 posterior polymorphous corneal dystrophy 2 ISO RGD:1313058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 2 PMID:11689488|PMID:15914606|PMID:18024822|PMID:22002996|PMID:23422828|PMID:25741868|PMID:399801 8940560 Col8a2 collagen type VIII alpha 2 chain gene DOID:11555 Fuchs' endothelial dystrophy ISO RGD:1313059 D RGD:9068941 20220825 MouseDO OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 8940560 Col8a2 collagen type VIII alpha 2 chain gene DOID:630 genetic disease ISO RGD:1313058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8940560 Col8a2 collagen type VIII alpha 2 chain gene DOID:9000137 Corneal Dystrophy, Fuchs' Endothelial, 1 ISO RGD:1313058 D RGD:7240710 20180130 OMIM 8940560 Col8a2 collagen type VIII alpha 2 chain gene DOID:9000137 Corneal Dystrophy, Fuchs' Endothelial, 1 ISO RGD:1313058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 1 PMID:11689488|PMID:15914606|PMID:18024822|PMID:22002996|PMID:23422828|PMID:25741868|PMID:399801 8940567 Slc35a5 solute carrier family 35 member A5 gene DOID:0080600 COVID-19 ISO RGD:1344135 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8940567 Slc35a5 solute carrier family 35 member A5 gene DOID:630 genetic disease ISO RGD:1344135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940567 Slc35a5 solute carrier family 35 member A5 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1344135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 8940593 Zc3h8 zinc finger CCCH-type containing 8 gene DOID:630 genetic disease ISO RGD:1321369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940608 Ark2n arkadia (RNF111) N-terminal like PKA signaling regulator 2N gene DOID:0060356 Vici syndrome ISO RGD:1318467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8940608 Ark2n arkadia (RNF111) N-terminal like PKA signaling regulator 2N gene DOID:1059 intellectual disability ISO RGD:1318467 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8940608 Ark2n arkadia (RNF111) N-terminal like PKA signaling regulator 2N gene DOID:630 genetic disease ISO RGD:1318467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940608 Ark2n arkadia (RNF111) N-terminal like PKA signaling regulator 2N gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1318467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8940625 Iqcg IQ motif containing G gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:1345008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition PMID:16199547|PMID:17576681|PMID:18535205|PMID:22262766|PMID:22689679|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532|PMID:32241839|PMID:9536098 8940625 Iqcg IQ motif containing G gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1345008 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:18535205|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532|PMID:29146883 8940625 Iqcg IQ motif containing G gene DOID:630 genetic disease ISO RGD:1345008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940646 LOC102029164 olfactory receptor 4D5 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8940646 LOC102029164 olfactory receptor 4D5 gene DOID:5419 schizophrenia ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8940646 LOC102029164 olfactory receptor 4D5 gene DOID:630 genetic disease ISO RGD:1343066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940646 LOC102029164 olfactory receptor 4D5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8940646 LOC102029164 olfactory receptor 4D5 gene DOID:9007661 Dwarfism ISO RGD:1343066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1318331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1318331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1318331 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:0080600 COVID-19 ISO RGD:1318331 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:0080688 mosaic variegated aneuploidy syndrome ISO RGD:1318331 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:0080689 mosaic variegated aneuploidy syndrome 3 ISO RGD:1318331 D RGD:7240710 20190315 OMIM 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:0080689 mosaic variegated aneuploidy syndrome 3 ISO RGD:1318331 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 3 PMID:25741868|PMID:28553959|PMID:32473092 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:2154 nephroblastoma ISO RGD:1318331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:630 genetic disease ISO RGD:1318331 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:684 hepatocellular carcinoma ISO RGD:1318331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1318331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:9006192 Oocyte/Zygote/Embryo Maturation Arrest 9 ISO RGD:1318331 D RGD:7240710 20200930 OMIM 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:9006192 Oocyte/Zygote/Embryo Maturation Arrest 9 ISO RGD:1318331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 9 PMID:25741868|PMID:32473092 8940649 Trip13 thyroid hormone receptor interactor 13 gene DOID:9008692 Aneuploidy ISO RGD:1318331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553959 8940674 Cabp1 calcium binding protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:620385 D RGD:9068941 20200609 RGD protein:altered expression:brain PMID:12941472|REF_RGD_ID:14399955 8940674 Cabp1 calcium binding protein 1 gene DOID:5419 schizophrenia ISO RGD:731282 D RGD:9068941 20200609 RGD protein:altered expression:brain: PMID:17719205|REF_RGD_ID:14399958 8940674 Cabp1 calcium binding protein 1 gene DOID:630 genetic disease ISO RGD:731282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940674 Cabp1 calcium binding protein 1 gene DOID:9002607 Serotonin Syndrome ISO RGD:620385 D RGD:9068941 20200609 RGD protein:altered expression:postsynaptic density PMID:19224364|REF_RGD_ID:14399959 8940674 Cabp1 calcium binding protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:620385 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21138988|REF_RGD_ID:7241599 8940730 Lsm6 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1345160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 8940730 Lsm6 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1345160 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940744 Thbs1 thrombospondin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8940744 Thbs1 thrombospondin 1 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:1345942 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35357534 8940744 Thbs1 thrombospondin 1 gene DOID:0080600 COVID-19 ISO RGD:1345942 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8940744 Thbs1 thrombospondin 1 gene DOID:10283 prostate cancer ISO RGD:1588455 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:16076702|REF_RGD_ID:2317961 8940744 Thbs1 thrombospondin 1 gene DOID:1063 interstitial nephritis ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 8940744 Thbs1 thrombospondin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1345942 D RGD:9068941 20231026 RGD DNA:SNP:CDS:N700S, rs2228262 (human) PMID:34143713|REF_RGD_ID:401851036 8940744 Thbs1 thrombospondin 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:1345942 D RGD:9068941 20200609 RGD protein:decreased expression:bladder PMID:20299037|REF_RGD_ID:13602099 8940744 Thbs1 thrombospondin 1 gene DOID:114 heart disease ISO RGD:1588455 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium PMID:16630453|REF_RGD_ID:2317959 8940744 Thbs1 thrombospondin 1 gene DOID:11713 diabetic angiopathy ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 8940744 Thbs1 thrombospondin 1 gene DOID:12894 Sjogren's syndrome ISO RGD:1615939 D RGD:9068941 20220825 MouseDO OMIM:270150 8940744 Thbs1 thrombospondin 1 gene DOID:1793 pancreatic cancer ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:16757110|REF_RGD_ID:2325023 8940744 Thbs1 thrombospondin 1 gene DOID:1793 pancreatic cancer ISO RGD:1345942 D RGD:9068941 20200609 RGD DNA:hypermethylation (human) PMID:10766168|REF_RGD_ID:2325028 8940744 Thbs1 thrombospondin 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:20203415|REF_RGD_ID:2325021 8940744 Thbs1 thrombospondin 1 gene DOID:2717 Bloom syndrome ISO RGD:1345942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8940744 Thbs1 thrombospondin 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1345942 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:19065635|REF_RGD_ID:2325022 8940744 Thbs1 thrombospondin 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:12429967|REF_RGD_ID:2325025 8940744 Thbs1 thrombospondin 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:16465407|REF_RGD_ID:2325024 8940744 Thbs1 thrombospondin 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1345942 D RGD:9068941 20200609 RGD DNA:hypermethylation (human) PMID:12213730|REF_RGD_ID:2325026 8940744 Thbs1 thrombospondin 1 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:11927969|REF_RGD_ID:2325027 8940744 Thbs1 thrombospondin 1 gene DOID:5082 liver cirrhosis ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18407596 8940744 Thbs1 thrombospondin 1 gene DOID:5419 schizophrenia ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8940744 Thbs1 thrombospondin 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8940744 Thbs1 thrombospondin 1 gene DOID:5844 myocardial infarction ISO RGD:1588455 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:16179730|REF_RGD_ID:2317960 8940744 Thbs1 thrombospondin 1 gene DOID:630 genetic disease ISO RGD:1345942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8940744 Thbs1 thrombospondin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8940744 Thbs1 thrombospondin 1 gene DOID:8947 diabetic retinopathy ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17117553 8940744 Thbs1 thrombospondin 1 gene DOID:8947 diabetic retinopathy ISO RGD:1588455 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17117553|REF_RGD_ID:2317943 8940744 Thbs1 thrombospondin 1 gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:1345942 D RGD:9068941 20200609 RGD PMID:10427124|REF_RGD_ID:2325029 8940744 Thbs1 thrombospondin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1588455 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:19719963|REF_RGD_ID:2317939 8940744 Thbs1 thrombospondin 1 gene DOID:9000784 Fibrosis ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16005714 8940744 Thbs1 thrombospondin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1615939 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17878288|REF_RGD_ID:2317941 8940744 Thbs1 thrombospondin 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1588455 D RGD:9068941 20200609 RGD PMID:20136391|REF_RGD_ID:2317938 8940744 Thbs1 thrombospondin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 8940744 Thbs1 thrombospondin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1588455 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:15459484|REF_RGD_ID:1626167 8940744 Thbs1 thrombospondin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1588455 D RGD:9068941 20200609 RGD PMID:17640965|REF_RGD_ID:2317942 8940744 Thbs1 thrombospondin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345942 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35357534 8940744 Thbs1 thrombospondin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1588455 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16179730|REF_RGD_ID:2317960 8940744 Thbs1 thrombospondin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1345942 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9309585 8940744 Thbs1 thrombospondin 1 gene DOID:9256 colorectal cancer ISO RGD:1345942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8940744 Thbs1 thrombospondin 1 gene DOID:9970 obesity ISO RGD:1345942 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mononuclear cell, adipose tissue: PMID:24086512|REF_RGD_ID:9681453 8940773 Rassf7 Ras association domain family member 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8940773 Rassf7 Ras association domain family member 7 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1314751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8940773 Rassf7 Ras association domain family member 7 gene DOID:0080773 delta beta-thalassemia ISO RGD:1314751 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8940773 Rassf7 Ras association domain family member 7 gene DOID:0111969 immunodeficiency 39 ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8940773 Rassf7 Ras association domain family member 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8940773 Rassf7 Ras association domain family member 7 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1314751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8940773 Rassf7 Ras association domain family member 7 gene DOID:630 genetic disease ISO RGD:1314751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940786 Tdo2 tryptophan 2,3-dioxygenase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:68531 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 8940786 Tdo2 tryptophan 2,3-dioxygenase gene DOID:0111703 familial hypertryptophanemia ISO RGD:68531 D RGD:7240710 20200311 OMIM 8940786 Tdo2 tryptophan 2,3-dioxygenase gene DOID:0111703 familial hypertryptophanemia ISO RGD:68531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertryptophanemia PMID:28285122 8940786 Tdo2 tryptophan 2,3-dioxygenase gene DOID:10652 Alzheimer's disease treatment ISO RGD:68532 D RGD:9068941 20200609 RGD PMID:27190010|REF_RGD_ID:13601984 8940786 Tdo2 tryptophan 2,3-dioxygenase gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:68531 D RGD:9068941 20200609 RGD PMID:8873217|REF_RGD_ID:1358595 8940786 Tdo2 tryptophan 2,3-dioxygenase gene DOID:12849 autistic disorder ISO RGD:68531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14755447 8940786 Tdo2 tryptophan 2,3-dioxygenase gene DOID:630 genetic disease ISO RGD:68531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940786 Tdo2 tryptophan 2,3-dioxygenase gene DOID:9005587 Starvation ISO RGD:68531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7306070 8940786 Tdo2 tryptophan 2,3-dioxygenase gene DOID:9005930 Endotoxemia severity ISO RGD:68532 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1602125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602125 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:0080205 CAKUT ISO RGD:1602125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:26572623|PMID:26942288|PMID:27657687|PMID:28492532|PMID:29271071 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1602125 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1602125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation ISO RGD:1602125 D RGD:7240710 20190315 OMIM 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation ISO RGD:1602125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-Related Disorder PMID:16199547|PMID:25741868|PMID:26572623|PMID:26942288|PMID:27657687|PMID:28492532|PMID:29271071|PMID:30577886|PMID:31904590|PMID:32092440|PMID:33236988|PMID:34426522 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1602125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:23105016|PMID:28492532 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1602125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:630 genetic disease ISO RGD:1602125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26942288|PMID:28492532|PMID:30577886|PMID:31904590|PMID:33236988|PMID:34426522|PMID:9536098 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1602125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1602125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26572623|PMID:26942288|PMID:28492532|PMID:29271071|PMID:32092440 8940806 Emc1 ER membrane protein complex subunit 1 gene DOID:9970 obesity ISO RGD:1602125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Obesity PMID:26572623|PMID:26942288|PMID:28492532|PMID:29271071 8940843 Rps6ka5 ribosomal protein S6 kinase A5 gene DOID:0080054 achondrogenesis type IA ISO RGD:1318046 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8940843 Rps6ka5 ribosomal protein S6 kinase A5 gene DOID:0080600 COVID-19 ISO RGD:1318046 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8940843 Rps6ka5 ribosomal protein S6 kinase A5 gene DOID:630 genetic disease ISO RGD:1318046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940843 Rps6ka5 ribosomal protein S6 kinase A5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1318046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16339038 8940885 Mycbp2 MYC binding protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8940885 Mycbp2 MYC binding protein 2 gene DOID:0070056 autosomal dominant intellectual developmental disorder 26 ISO RGD:1323830 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency PMID:25741868|PMID:36200388 8940885 Mycbp2 MYC binding protein 2 gene DOID:10283 prostate cancer ISO RGD:1323830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8940885 Mycbp2 MYC binding protein 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:20127975|PMID:20157158|PMID:22589734|PMID:28492532|PMID:30394532|PMID:31406620|PMID:32393339|PMID:8001159 8940885 Mycbp2 MYC binding protein 2 gene DOID:630 genetic disease ISO RGD:1323830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940885 Mycbp2 MYC binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1323830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8940992 Tlx1 T cell leukemia homeobox 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1717256 8940992 Tlx1 T cell leukemia homeobox 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1351719 D RGD:9068941 20200609 RGD PMID:1683261|REF_RGD_ID:1599439 8940992 Tlx1 T cell leukemia homeobox 1 gene DOID:0090020 split hand-foot malformation ISO RGD:1351719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:21681106 8940992 Tlx1 T cell leukemia homeobox 1 gene DOID:2529 splenic disease ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7908720 8940992 Tlx1 T cell leukemia homeobox 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 8940992 Tlx1 T cell leukemia homeobox 1 gene DOID:630 genetic disease ISO RGD:1351719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940992 Tlx1 T cell leukemia homeobox 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 8940992 Tlx1 T cell leukemia homeobox 1 gene DOID:9008692 Aneuploidy ISO RGD:1351719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 8940998 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0080606 anterior segment dysgenesis 1 ISO RGD:1316187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:10361984|PMID:15286169|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 8940998 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A ISO RGD:1316187 D RGD:7240710 20211110 OMIM 8940998 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A ISO RGD:1316187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Disease, axonal, type 2GG PMID:25741868|PMID:28492532|PMID:32937143 8940998 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:0110249 cataract 11 multiple types ISO RGD:1316187 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar PMID:10361984|PMID:15286169|PMID:16565358|PMID:17888164|PMID:18989383|PMID:24555714|PMID:25741868|PMID:28492532|PMID:29405783|PMID:6801987|PMID:9620774 8940998 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1316187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8940998 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:7319 axonal neuropathy ISO RGD:1316187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Motor axonal neuropathy PMID:32937143 8940998 Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 gene DOID:9005728 Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities ISO RGD:1316187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities PMID:15286169|PMID:16565358 8941054 Sgpp1 sphingosine-1-phosphate phosphatase 1 gene DOID:630 genetic disease ISO RGD:1343984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941061 CUNH16orf74 chromosome unknown C16orf74 homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1606366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8941061 CUNH16orf74 chromosome unknown C16orf74 homolog gene DOID:630 genetic disease ISO RGD:1606366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941095 Tmem141 transmembrane protein 141 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8941095 Tmem141 transmembrane protein 141 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1602669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8941095 Tmem141 transmembrane protein 141 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602669 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8941095 Tmem141 transmembrane protein 141 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8941095 Tmem141 transmembrane protein 141 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1602669 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8941095 Tmem141 transmembrane protein 141 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8941095 Tmem141 transmembrane protein 141 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602669 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8941095 Tmem141 transmembrane protein 141 gene DOID:0081097 Rafiq syndrome ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8941095 Tmem141 transmembrane protein 141 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602669 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8941095 Tmem141 transmembrane protein 141 gene DOID:3652 Leigh disease ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8941095 Tmem141 transmembrane protein 141 gene DOID:630 genetic disease ISO RGD:1602669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941095 Tmem141 transmembrane protein 141 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8941105 LOC102024691 cytochrome c oxidase subunit 8A, mitochondrial gene DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 ISO RGD:1348555 D RGD:7240710 20201111 OMIM 8941105 LOC102024691 cytochrome c oxidase subunit 8A, mitochondrial gene DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 ISO RGD:1348555 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 PMID:25741868|PMID:28492532 8941105 LOC102024691 cytochrome c oxidase subunit 8A, mitochondrial gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8941105 LOC102024691 cytochrome c oxidase subunit 8A, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1348555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8941105 LOC102024691 cytochrome c oxidase subunit 8A, mitochondrial gene DOID:3070 high grade glioma ISO RGD:1348555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8941105 LOC102024691 cytochrome c oxidase subunit 8A, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1348555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:25741868|PMID:26685157 8941118 Fbxl12 F-box and leucine rich repeat protein 12 gene DOID:12849 autistic disorder ISO RGD:1313605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8941118 Fbxl12 F-box and leucine rich repeat protein 12 gene DOID:630 genetic disease ISO RGD:1313605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941135 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1315215 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8941135 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:12849 autistic disorder ISO RGD:1315215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8941135 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:1540 parathyroid carcinoma ISO RGD:1315215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8941135 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:630 genetic disease ISO RGD:1315215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941135 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21986133 8941135 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1315215 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8941135 Pik3c2b phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8941173 Rnf214 ring finger protein 214 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8941173 Rnf214 ring finger protein 214 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8941173 Rnf214 ring finger protein 214 gene DOID:0080690 RASopathy ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8941173 Rnf214 ring finger protein 214 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8941173 Rnf214 ring finger protein 214 gene DOID:0111123 nephronophthisis 15 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8941173 Rnf214 ring finger protein 214 gene DOID:0111971 immunodeficiency 18 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8941173 Rnf214 ring finger protein 214 gene DOID:0111972 immunodeficiency 19 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8941173 Rnf214 ring finger protein 214 gene DOID:0111973 immunodeficiency 17 ISO RGD:1604189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8941173 Rnf214 ring finger protein 214 gene DOID:1059 intellectual disability ISO RGD:1604189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8941173 Rnf214 ring finger protein 214 gene DOID:630 genetic disease ISO RGD:1604189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941173 Rnf214 ring finger protein 214 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8941173 Rnf214 ring finger protein 214 gene DOID:9007661 Dwarfism ISO RGD:1604189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8941215 Znf263 zinc finger protein 263 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8941215 Znf263 zinc finger protein 263 gene DOID:1826 epilepsy ISO RGD:1316415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8941215 Znf263 zinc finger protein 263 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316415 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8941215 Znf263 zinc finger protein 263 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1316415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8941215 Znf263 zinc finger protein 263 gene DOID:630 genetic disease ISO RGD:1316415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941225 Slc5a11 solute carrier family 5 member 11 gene DOID:630 genetic disease ISO RGD:1347645 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941266 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ISO RGD:1318324 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency PMID:28492532 8941266 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:0111637 autosomal recessive nonsyndromic deafness 112 ISO RGD:1318324 D RGD:7240710 20190315 OMIM 8941266 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:0111637 autosomal recessive nonsyndromic deafness 112 ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 112 PMID:24312468|PMID:25741868 8941266 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:630 genetic disease ISO RGD:1318324 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025 8941266 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8941266 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:9004538 Hearing Loss ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8941266 Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB gene DOID:9008681 Deafness ISO RGD:1318324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness 8941324 Bhlha15 basic helix-loop-helix family member a15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:737550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8941324 Bhlha15 basic helix-loop-helix family member a15 gene DOID:630 genetic disease ISO RGD:737550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941333 LOC102028842 olfactory receptor 8D4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8941333 LOC102028842 olfactory receptor 8D4 gene DOID:5419 schizophrenia ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8941333 LOC102028842 olfactory receptor 8D4 gene DOID:630 genetic disease ISO RGD:1319573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941333 LOC102028842 olfactory receptor 8D4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8941333 LOC102028842 olfactory receptor 8D4 gene DOID:9007661 Dwarfism ISO RGD:1319573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8941338 Fam169a family with sequence similarity 169 member A gene DOID:0080600 COVID-19 ISO RGD:2300032 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8941338 Fam169a family with sequence similarity 169 member A gene DOID:3323 Sandhoff disease ISO RGD:2300032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 8941338 Fam169a family with sequence similarity 169 member A gene DOID:630 genetic disease ISO RGD:2300032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941338 Fam169a family with sequence similarity 169 member A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2300032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8941360 Rsrc2 arginine and serine rich coiled-coil 2 gene DOID:630 genetic disease ISO RGD:1606784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941360 Rsrc2 arginine and serine rich coiled-coil 2 gene DOID:9970 obesity ISO RGD:1606784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 8941379 Col21a1 collagen type XXI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1347782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941379 Col21a1 collagen type XXI alpha 1 chain gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1347782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8941379 Col21a1 collagen type XXI alpha 1 chain gene DOID:9975 cocaine dependence susceptibility ISO RGD:1347782 D RGD:9068941 20231102 RGD DNA:SNP:: (rs1925156) (human) PMID:18438686|REF_RGD_ID:401851917 8941422 Snta1 syntrophin alpha 1 gene DOID:0050451 Brugada syndrome ISO RGD:1316039 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:26220970|PMID:28492532 8941422 Snta1 syntrophin alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:1316039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:18591664|PMID:22378279|PMID:25741868|PMID:27028743|PMID:28492532|PMID:31589614 8941422 Snta1 syntrophin alpha 1 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1316039 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:25741868|PMID:28492532 8941422 Snta1 syntrophin alpha 1 gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:25741868|PMID:28492532 8941422 Snta1 syntrophin alpha 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1316039 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:19684871|PMID:20009079|PMID:22584458|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:25650408|PMID:25741868|PMID:25956966|PMID:26159999|PMID:28492532|PMID:28837624|PMID:29343803|PMID:30847666|PMID:32893267 8941422 Snta1 syntrophin alpha 1 gene DOID:0110645 long QT syndrome 2 ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 8941422 Snta1 syntrophin alpha 1 gene DOID:0110653 long QT syndrome 12 ISO RGD:1316039 D RGD:7240710 20180130 OMIM 8941422 Snta1 syntrophin alpha 1 gene DOID:0110653 long QT syndrome 12 ISO RGD:1316039 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26220970|PMID:27028743|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30369311|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:32893267|PMID:34546463|PMID:9536098 8941422 Snta1 syntrophin alpha 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 8941422 Snta1 syntrophin alpha 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 8941422 Snta1 syntrophin alpha 1 gene DOID:13884 sick sinus syndrome ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome PMID:25741868|PMID:28492532 8941422 Snta1 syntrophin alpha 1 gene DOID:1824 status epilepticus ISO RGD:1307068 D RGD:9068941 20200609 RGD protein:decreased expression:piriform cortex PMID:20886625|REF_RGD_ID:5148023 8941422 Snta1 syntrophin alpha 1 gene DOID:1824 status epilepticus ISO RGD:1316039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886625 8941422 Snta1 syntrophin alpha 1 gene DOID:2843 long QT syndrome ISO RGD:1316039 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:16199547|PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:24981977|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26220970|PMID:27028743|PMID:27231019|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30369311|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:9536098 8941422 Snta1 syntrophin alpha 1 gene DOID:2843 long QT syndrome ISO RGD:1316039 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:24981977|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26220970|PMID:27028743|PMID:27231019|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30369311|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:32893267|PMID:34546463|PMID:9536098 8941422 Snta1 syntrophin alpha 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23631430|PMID:28492532 8941422 Snta1 syntrophin alpha 1 gene DOID:630 genetic disease ISO RGD:1316039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941422 Snta1 syntrophin alpha 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation 8941422 Snta1 syntrophin alpha 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1316039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:26220970|PMID:28492532 8941422 Snta1 syntrophin alpha 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1316039 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624 8941422 Snta1 syntrophin alpha 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1316039 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:30847666|PMID:32893267 8941422 Snta1 syntrophin alpha 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:20009079|PMID:24319568|PMID:25650408|PMID:25741868|PMID:28492532|PMID:29343803 8941422 Snta1 syntrophin alpha 1 gene DOID:9007 sudden infant death syndrome susceptibility ISO RGD:1316039 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:multiple PMID:20009079|REF_RGD_ID:6771369 8941422 Snta1 syntrophin alpha 1 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1316039 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:28492532 8941422 Snta1 syntrophin alpha 1 gene DOID:9883 Becker muscular dystrophy ISO RGD:1316039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:25741868|PMID:28492532 8941435 Lrrc39 leucine rich repeat containing 39 gene DOID:630 genetic disease ISO RGD:1606975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941435 Lrrc39 leucine rich repeat containing 39 gene DOID:9269 maple syrup urine disease ISO RGD:1606975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8941448 Lage3 L antigen family member 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1602901 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8941448 Lage3 L antigen family member 3 gene DOID:0050476 Barth syndrome ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8941448 Lage3 L antigen family member 3 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8941448 Lage3 L antigen family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8941448 Lage3 L antigen family member 3 gene DOID:0080244 Galloway-Mowat syndrome 2 ISO RGD:1602901 D RGD:7240710 20190315 OMIM 8941448 Lage3 L antigen family member 3 gene DOID:0080244 Galloway-Mowat syndrome 2 ISO RGD:1602901 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked PMID:12693786|PMID:25741868|PMID:28492532|PMID:28805828 8941448 Lage3 L antigen family member 3 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1602901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 8941448 Lage3 L antigen family member 3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1602901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 8941448 Lage3 L antigen family member 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1602901 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8941448 Lage3 L antigen family member 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8941448 Lage3 L antigen family member 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8941448 Lage3 L antigen family member 3 gene DOID:12849 autistic disorder ISO RGD:1602901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8941448 Lage3 L antigen family member 3 gene DOID:13628 favism ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8941448 Lage3 L antigen family member 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1602901 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8941448 Lage3 L antigen family member 3 gene DOID:607 paraplegia ISO RGD:1602901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8941448 Lage3 L antigen family member 3 gene DOID:630 genetic disease ISO RGD:1602901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8941448 Lage3 L antigen family member 3 gene DOID:9002720 Splenomegaly ISO RGD:1602901 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8941455 Mgat1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:0080600 COVID-19 ISO RGD:1349279 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8941455 Mgat1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1349279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941477 Tirap TIR domain containing adaptor protein gene DOID:0110877 holoprosencephaly 11 ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8941477 Tirap TIR domain containing adaptor protein gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8941477 Tirap TIR domain containing adaptor protein gene DOID:12365 malaria ISO RGD:1322402 D RGD:7240710 20230505 OMIM 8941477 Tirap TIR domain containing adaptor protein gene DOID:12365 malaria ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malaria, resistance to PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 8941477 Tirap TIR domain containing adaptor protein gene DOID:2945 severe acute respiratory syndrome ISO RGD:1322402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 8941477 Tirap TIR domain containing adaptor protein gene DOID:399 tuberculosis ISO RGD:1322402 D RGD:7240710 20230505 OMIM 8941477 Tirap TIR domain containing adaptor protein gene DOID:399 tuberculosis ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 8941477 Tirap TIR domain containing adaptor protein gene DOID:5419 schizophrenia ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8941477 Tirap TIR domain containing adaptor protein gene DOID:630 genetic disease ISO RGD:1322402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941477 Tirap TIR domain containing adaptor protein gene DOID:9000989 Pneumococcal Infections ISO RGD:1322402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17322885 8941477 Tirap TIR domain containing adaptor protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284379 8941477 Tirap TIR domain containing adaptor protein gene DOID:9003909 Immunodeficiency 67 ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Invasive pneumococcal disease, protection against PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 8941477 Tirap TIR domain containing adaptor protein gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8941477 Tirap TIR domain containing adaptor protein gene DOID:9005036 Bacteremia ISO RGD:1322402 D RGD:7240710 20180130 OMIM 8941477 Tirap TIR domain containing adaptor protein gene DOID:9005036 Bacteremia ISO RGD:1322402 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bacteremia, susceptibility to, 1 PMID:16991088|PMID:17322885|PMID:18305471|PMID:25741868 8941477 Tirap TIR domain containing adaptor protein gene DOID:9007661 Dwarfism ISO RGD:1322402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8941506 Primpol primase and DNA directed polymerase gene DOID:630 genetic disease ISO RGD:1605846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941506 Primpol primase and DNA directed polymerase gene DOID:9003490 Myopia 22, Autosomal Dominant ISO RGD:1605846 D RGD:7240710 20190315 OMIM 8941506 Primpol primase and DNA directed polymerase gene DOID:9003490 Myopia 22, Autosomal Dominant ISO RGD:1605846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 22, autosomal dominant PMID:23579484 8941533 Tas2r5 taste 2 receptor member 5 gene DOID:0080690 RASopathy ISO RGD:1353421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8941533 Tas2r5 taste 2 receptor member 5 gene DOID:630 genetic disease ISO RGD:1353421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941533 Tas2r5 taste 2 receptor member 5 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1353421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 8941559 Rbpms2 RNA binding protein, mRNA processing factor 2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1351025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8941559 Rbpms2 RNA binding protein, mRNA processing factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1351025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8941559 Rbpms2 RNA binding protein, mRNA processing factor 2 gene DOID:630 genetic disease ISO RGD:1351025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941559 Rbpms2 RNA binding protein, mRNA processing factor 2 gene DOID:9256 colorectal cancer ISO RGD:1351025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8941576 Spryd3 SPRY domain containing 3 gene DOID:630 genetic disease ISO RGD:1602855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941599 Snx5 sorting nexin 5 gene DOID:630 genetic disease ISO RGD:1320945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941599 Snx5 sorting nexin 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8941599 Snx5 sorting nexin 5 gene DOID:9000918 Disease Progression ISO RGD:1320945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8941618 Bpi bactericidal permeability increasing protein gene DOID:2234 focal epilepsy ISO RGD:1352137 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8941618 Bpi bactericidal permeability increasing protein gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1352137 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8941618 Bpi bactericidal permeability increasing protein gene DOID:630 genetic disease ISO RGD:1352137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941618 Bpi bactericidal permeability increasing protein gene DOID:8778 Crohn's disease ISO RGD:1352137 D RGD:9068941 20200609 RGD PMID:15758620|REF_RGD_ID:1580079 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27054081|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059|PMID:9425895 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:10356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27054081|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059|PMID:31418850 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050742 nicotine dependence ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHRNA4-related condition | ClinVar Annotator: match by term: Nicotine addiction, protection against PMID:15154117|PMID:25741868|PMID:26467025|PMID:28492532 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:10356 D RGD:7240710 20240306 OMIM 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:10356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27029629|PMID:27779742|PMID:28492532|PMID:29590070|PMID:31628766|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:16222669|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23593457|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29454195|PMID:29590070|PMID:3089211|PMID:31628766|PMID:36292983|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:10356 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:16222669|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23527921|PMID:23593457|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29454195|PMID:29590070|PMID:3089211|PMID:31628766|PMID:36292983|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 ISO RGD:10356 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 1 PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:16222669|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:20016990|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23593457|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:26704558|PMID:28492532|PMID:29590070|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 susceptibility ISO RGD:10356 D RGD:7240710 20240306 OMIM 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:23453664|PMID:23959892|PMID:25607374|PMID:28492532 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27779742|PMID:28492532|PMID:30866059 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:10356 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:10448807|PMID:10563623|PMID:10643924|PMID:10939581|PMID:10964949|PMID:11904236|PMID:12887446|PMID:14534157|PMID:14623738|PMID:15154117|PMID:16222669|PMID:17290276|PMID:17576681|PMID:18414213|PMID:18685138|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:19822871|PMID:20016990|PMID:20805988|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23166088|PMID:23360469|PMID:23527921|PMID:23593457|PMID:23692823|PMID:24385388|PMID:24811917|PMID:25741868|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26467025|PMID:26561946|PMID:26704558|PMID:26758118|PMID:27779742|PMID:28492532|PMID:29454195|PMID:29590070|PMID:3089211|PMID:31628766|PMID:36292983|PMID:7476881|PMID:7550350|PMID:7647781|PMID:8696332|PMID:8833159|PMID:9339675|PMID:9536098 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0081325 developmental and epileptic encephalopathy 94 ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94 PMID:25741868 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:10356 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:17290276|PMID:19822871|PMID:20805988|PMID:23166088|PMID:23360469|PMID:23692823|PMID:24811917|PMID:25052858|PMID:25921748|PMID:25951140|PMID:25959266|PMID:26030193|PMID:26758118|PMID:27054081|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059|PMID:31418850 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1059 intellectual disability ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:10652 Alzheimer's disease ISO RGD:10356 D RGD:9068941 20200609 RGD PMID:15465084|REF_RGD_ID:1358509 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21748252 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:11832 visual epilepsy ISO RGD:10356 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:10563623|PMID:10643924|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19628475|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:12217 Lewy body dementia ISO RGD:10356 D RGD:9068941 20200609 RGD PMID:15465084|REF_RGD_ID:1358509 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:12849 autistic disorder ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15046869 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1826 epilepsy ISO RGD:10356 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:10563623|PMID:10643924|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19628475|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1826 epilepsy ISO RGD:10356 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10563623|PMID:10643924|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19628475|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22873564|PMID:22883468|PMID:23593457|PMID:24385388|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:1826 epilepsy ISO RGD:10356 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:29454195|PMID:31628766 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:3331 frontal lobe epilepsy ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12823585|PMID:14996991|PMID:17881519 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:535 sleep disorder ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16339034 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:543 dystonia ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404753 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:6000 congestive heart failure ISO RGD:2346 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:630 genetic disease ISO RGD:10356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10563623|PMID:10643924|PMID:10939581|PMID:11904236|PMID:12887446|PMID:14623738|PMID:15154117|PMID:18414213|PMID:19020039|PMID:19058950|PMID:19237585|PMID:19628475|PMID:20016990|PMID:21107856|PMID:21683344|PMID:21753767|PMID:22036597|PMID:22118295|PMID:22873564|PMID:22883468|PMID:23593457|PMID:24385388|PMID:25282705|PMID:25741868|PMID:26467025|PMID:26561946|PMID:28492532|PMID:31628766|PMID:9339675 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:863 nervous system disease ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tobacco use disorder PMID:19628475|PMID:21107856|PMID:21683344|PMID:22873564|PMID:24385388|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31628766 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9005372 Inflammation ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20943775 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9008086 Developmental Disabilities ISO RGD:10356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 8941654 Chrna4 cholinergic receptor nicotinic alpha 4 subunit gene DOID:9255 frontotemporal dementia ISO RGD:10356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:28492532 8941664 Prkab1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:2983 anuria treatment ISO RGD:735403 D RGD:9068941 20201001 RGD PMID:27782167|REF_RGD_ID:39128183 8941664 Prkab1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:630 genetic disease ISO RGD:735402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941664 Prkab1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8941664 Prkab1 protein kinase AMP-activated non-catalytic subunit beta 1 gene DOID:9000918 Disease Progression ISO RGD:735402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8941679 Kcnip2 potassium voltage-gated channel interacting protein 2 gene DOID:630 genetic disease ISO RGD:734096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941679 Kcnip2 potassium voltage-gated channel interacting protein 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737095 D RGD:9068941 20200609 RGD PMID:11747815|REF_RGD_ID:737786 8941692 Osm oncostatin M gene DOID:0080600 COVID-19 ISO RGD:69134 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8941692 Osm oncostatin M gene DOID:2773 contact dermatitis ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8941692 Osm oncostatin M gene DOID:3587 pancreatic ductal carcinoma ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24979617 8941692 Osm oncostatin M gene DOID:630 genetic disease ISO RGD:69134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941692 Osm oncostatin M gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8941692 Osm oncostatin M gene DOID:9000965 Neoplasm Metastasis ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937440 8941692 Osm oncostatin M gene DOID:9001341 Chloracne ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8941692 Osm oncostatin M gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69134 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17640959 8941699 Tmem237 transmembrane protein 237 gene DOID:0050777 Joubert syndrome ISO RGD:1315474 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17603801|PMID:22152675|PMID:22981120|PMID:25741868|PMID:26673778|PMID:28492532|PMID:31019026|PMID:31710777|PMID:34839509 8941699 Tmem237 transmembrane protein 237 gene DOID:0050778 Meckel syndrome ISO RGD:1315474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25558065|PMID:25741868 8941699 Tmem237 transmembrane protein 237 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8941699 Tmem237 transmembrane protein 237 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8941699 Tmem237 transmembrane protein 237 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1315474 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17603801|PMID:22152675|PMID:22981120|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31019026|PMID:31710777 8941699 Tmem237 transmembrane protein 237 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1315474 D RGD:7240710 20180130 OMIM 8941699 Tmem237 transmembrane protein 237 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1315474 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 | ClinVar Annotator: match by term: TMEM237-related condition PMID:11586298|PMID:14760273|PMID:16199547|PMID:17576681|PMID:17603801|PMID:22152675|PMID:22981120|PMID:23351400|PMID:24033266|PMID:24315819|PMID:25558065|PMID:25741868|PMID:26092869|PMID:26673778|PMID:28492532|PMID:28600779|PMID:31019026|PMID:31710777|PMID:34839509|PMID:9536098 8941699 Tmem237 transmembrane protein 237 gene DOID:630 genetic disease ISO RGD:1315474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8941699 Tmem237 transmembrane protein 237 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8941699 Tmem237 transmembrane protein 237 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8941699 Tmem237 transmembrane protein 237 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:1315474 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 8941699 Tmem237 transmembrane protein 237 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1315474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8941699 Tmem237 transmembrane protein 237 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1315474 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8941727 Slc39a11 solute carrier family 39 member 11 gene DOID:0080600 COVID-19 ISO RGD:1323721 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8941727 Slc39a11 solute carrier family 39 member 11 gene DOID:3070 high grade glioma ISO RGD:1323721 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8941727 Slc39a11 solute carrier family 39 member 11 gene DOID:630 genetic disease ISO RGD:1323721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941756 Haghl hydroxyacylglutathione hydrolase like gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1317582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8941756 Haghl hydroxyacylglutathione hydrolase like gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1317582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8941756 Haghl hydroxyacylglutathione hydrolase like gene DOID:1826 epilepsy ISO RGD:1317582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8941756 Haghl hydroxyacylglutathione hydrolase like gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1317582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8941756 Haghl hydroxyacylglutathione hydrolase like gene DOID:630 genetic disease ISO RGD:1317582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941768 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1318986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8941768 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1318986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8941768 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1318986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8941768 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1318986 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8941768 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1318986 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8941768 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1318986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8941768 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:630 genetic disease ISO RGD:1318986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941768 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1318986 D RGD:9068941 20220908 RGD human cells in mouse model PMID:34974791|REF_RGD_ID:153344629 8941768 Ythdf1 YTH N6-methyladenosine RNA binding protein F1 gene DOID:9538 multiple myeloma ISO RGD:1318986 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 8941779 Rab4a RAB4A, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:1351964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8941779 Rab4a RAB4A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1351964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941779 Rab4a RAB4A, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8941795 LOC102019006 chromosome unknown open reading frame, human C20orf96 gene DOID:630 genetic disease ISO RGD:1346131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941795 LOC102019006 chromosome unknown open reading frame, human C20orf96 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8941848 Zfr zinc finger RNA binding protein gene DOID:1059 intellectual disability ISO RGD:1323583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8941848 Zfr zinc finger RNA binding protein gene DOID:2476 hereditary spastic paraplegia ISO RGD:1323583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8941848 Zfr zinc finger RNA binding protein gene DOID:630 genetic disease ISO RGD:1323583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8941848 Zfr zinc finger RNA binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8941848 Zfr zinc finger RNA binding protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1323583 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34323000 8941848 Zfr zinc finger RNA binding protein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1323583 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34323000 8941876 Prrt4 proline rich transmembrane protein 4 gene DOID:0080600 COVID-19 ISO RGD:3051273 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8941876 Prrt4 proline rich transmembrane protein 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3051273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8941876 Prrt4 proline rich transmembrane protein 4 gene DOID:630 genetic disease ISO RGD:3051273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941886 Depdc7 DEP domain containing 7 gene DOID:1059 intellectual disability ISO RGD:1602447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8941886 Depdc7 DEP domain containing 7 gene DOID:12849 autistic disorder ISO RGD:1602447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8941886 Depdc7 DEP domain containing 7 gene DOID:630 genetic disease ISO RGD:1602447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941886 Depdc7 DEP domain containing 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8941900 Cdc5l cell division cycle 5 like gene DOID:0080205 CAKUT ISO RGD:731949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 8941900 Cdc5l cell division cycle 5 like gene DOID:3347 osteosarcoma ISO RGD:731949 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:18567798|REF_RGD_ID:10047050 8941900 Cdc5l cell division cycle 5 like gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:731949 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa (human) PMID:15725809|REF_RGD_ID:10047052 8941900 Cdc5l cell division cycle 5 like gene DOID:630 genetic disease ISO RGD:731949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941900 Cdc5l cell division cycle 5 like gene DOID:9005172 Lung Neoplasms ISO RGD:736292 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:14647414|REF_RGD_ID:10047051 8941921 Pilra paired immunoglobin like type 2 receptor alpha gene DOID:10652 Alzheimer's disease ISO RGD:1318381 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 8941921 Pilra paired immunoglobin like type 2 receptor alpha gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8941921 Pilra paired immunoglobin like type 2 receptor alpha gene DOID:630 genetic disease ISO RGD:1318381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941932 Fhip1a FHF complex subunit HOOK interacting protein 1A gene DOID:0080600 COVID-19 ISO RGD:2293812 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8941932 Fhip1a FHF complex subunit HOOK interacting protein 1A gene DOID:630 genetic disease ISO RGD:2293812 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941932 Fhip1a FHF complex subunit HOOK interacting protein 1A gene DOID:9002189 High Myopia ISO RGD:2293812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8941952 Necab2 N-terminal EF-hand calcium binding protein 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1345623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8941952 Necab2 N-terminal EF-hand calcium binding protein 2 gene DOID:630 genetic disease ISO RGD:1345623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941952 Necab2 N-terminal EF-hand calcium binding protein 2 gene DOID:9005126 Malonic Aciduria ISO RGD:1345623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:12955715|PMID:17186413|PMID:28492532 8941952 Necab2 N-terminal EF-hand calcium binding protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1345623 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8941975 Heatr4 HEAT repeat containing 4 gene DOID:0080600 COVID-19 ISO RGD:1602622 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8941975 Heatr4 HEAT repeat containing 4 gene DOID:1059 intellectual disability ISO RGD:1602622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild 8941975 Heatr4 HEAT repeat containing 4 gene DOID:630 genetic disease ISO RGD:1602622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8941975 Heatr4 HEAT repeat containing 4 gene DOID:9005603 Muscle Hypotonia ISO RGD:1602622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 8942012 Vps37b VPS37B subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1605953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942021 Znf687 zinc finger protein 687 gene DOID:0080422 Dravet syndrome ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8942021 Znf687 zinc finger protein 687 gene DOID:0081369 Paget's disease of bone 6 ISO RGD:1606250 D RGD:7240710 20190315 OMIM 8942021 Znf687 zinc finger protein 687 gene DOID:0081369 Paget's disease of bone 6 ISO RGD:1606250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paget disease of bone 6 PMID:15123951|PMID:22936311|PMID:25741868|PMID:26849110|PMID:28492532|PMID:29493781 8942021 Znf687 zinc finger protein 687 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8942021 Znf687 zinc finger protein 687 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8942021 Znf687 zinc finger protein 687 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8942021 Znf687 zinc finger protein 687 gene DOID:1540 parathyroid carcinoma ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8942021 Znf687 zinc finger protein 687 gene DOID:5408 Paget's disease of bone ISO RGD:1606250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8942021 Znf687 zinc finger protein 687 gene DOID:5812 MHC class II deficiency ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8942021 Znf687 zinc finger protein 687 gene DOID:630 genetic disease ISO RGD:1606250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8942021 Znf687 zinc finger protein 687 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8942043 Crtc1 CREB regulated transcription coactivator 1 gene DOID:1470 major depressive disorder ISO RGD:1614777 D RGD:9068941 20220825 MouseDO OMIM:608520 | OMIM:608691 8942043 Crtc1 CREB regulated transcription coactivator 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1589158 D RGD:9068941 20200609 RGD PMID:20417695|REF_RGD_ID:4891138 8942043 Crtc1 CREB regulated transcription coactivator 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1320323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121790 8942043 Crtc1 CREB regulated transcription coactivator 1 gene DOID:630 genetic disease ISO RGD:1320323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942043 Crtc1 CREB regulated transcription coactivator 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1320323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0050777 Joubert syndrome ISO RGD:1625089 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0050778 Meckel syndrome ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0070115 Meckel syndrome 1 ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:28492532 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1305121 D RGD:9068941 20230706 RGD mRNA, protein:increased expression:liver PMID:23329013|REF_RGD_ID:329951008 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1625089 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0080334 aortic valve disease 2 sexual_dimorphism ISO RGD:1625089 D RGD:9068941 20230525 RGD DNA:SNP: :rs9939609 (human) PMID:26431034|REF_RGD_ID:11251377 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0081292 traumatic brain injury ISO RGD:1305121 D RGD:9068941 20230708 RGD mRNA:decreased expression:cerebral cortex PMID:31992337|REF_RGD_ID:329901857 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0110980 Joubert syndrome 1 ISO RGD:1625089 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:17558409|PMID:28492532 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:0111112 nephronophthisis 1 ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:10325 silicosis ISO RGD:1625089 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:37979906 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:10763 hypertension ISO RGD:1621572 D RGD:9068941 20230525 RGD associated with Obesity PMID:31801409|REF_RGD_ID:329812016 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:10763 hypertension ISO RGD:1625089 D RGD:9068941 20230622 RGD DNA:SNP:intron:rs9302652 (human) PMID:20031594|REF_RGD_ID:329901765 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:10825 essential hypertension ISO RGD:1346162 D RGD:9068941 20230608 RGD DNA:SNP: :rs8050136 (human) PMID:23691120|REF_RGD_ID:329845889 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:11446 sciatic neuropathy ISO RGD:1305121 D RGD:9068941 20230708 RGD PMID:33829413|PMID:36545239|REF_RGD_ID:329951012|REF_RGD_ID:329951014 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:12712 nephronophthisis ISO RGD:1625089 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:1287 cardiovascular system disease sexual_dimorphism ISO RGD:1625089 D RGD:9068941 20230622 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs9939609 (human) PMID:20400278|REF_RGD_ID:329901763 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:13963 nuclear senile cataract ISO RGD:1625089 D RGD:9068941 20230608 RGD DNA:SNP: :rs9939609 (human) PMID:19329528|REF_RGD_ID:329845885 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:1909 melanoma ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23455637 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:1936 atherosclerosis sexual_dimorphism ISO RGD:733604 D RGD:9068941 20230525 RGD PMID:28253220|REF_RGD_ID:329812017 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:224 transient cerebral ischemia ISO RGD:1305121 D RGD:9068941 20230622 RGD protein:decreased expression:cerebral cortex PMID:32426101|REF_RGD_ID:329901764 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:224 transient cerebral ischemia ISO RGD:1305121 D RGD:9068941 20230708 RGD mRNA:decreased expression:cerebral cortex PMID:36479246|REF_RGD_ID:329951019 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:224 transient cerebral ischemia ISO RGD:1621572 D RGD:9068941 20230622 RGD mRNA:decreased expression:heart PMID:34413770|REF_RGD_ID:329901768 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:3393 coronary artery disease ISO RGD:1625089 D RGD:9068941 20230525 RGD DNA:SNP: :rs9939609 (human) PMID:24622111|REF_RGD_ID:329812039 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:3393 coronary artery disease ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP:intron:rs9939609 (human) PMID:28167353|REF_RGD_ID:329901772 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:4450 renal cell carcinoma treatment ISO RGD:1625089 D RGD:9068941 20230520 RGD PMID:30648791|REF_RGD_ID:329812005 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1625089 D RGD:9068941 20230520 RGD mRNA:increased expression:kidney PMID:32817424|REF_RGD_ID:329812006 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1625089 D RGD:9068941 20230520 RGD mRNA:decreased expression:kidney PMID:30648791|REF_RGD_ID:329812005 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:4467 clear cell renal cell carcinoma treatment ISO RGD:1625089 D RGD:9068941 20230520 RGD PMID:32817424|REF_RGD_ID:329812006 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:5844 myocardial infarction ISO RGD:1621572 D RGD:9068941 20230520 RGD mRNA, protein:decreased expression:heart PMID:29997116|REF_RGD_ID:329812009 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:5844 myocardial infarction ISO RGD:1625089 D RGD:9068941 20230622 RGD associated with type 2 diabetes mellitus;DNA:SNP:intron:rs9939609 (human) PMID:20031593|REF_RGD_ID:329901766 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:5844 myocardial infarction ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP: :rs17817449 (human) PMID:26772723|REF_RGD_ID:11555187 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:5844 myocardial infarction treatment ISO RGD:1621572 D RGD:9068941 20230520 RGD PMID:29997116|REF_RGD_ID:329812009 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:6000 congestive heart failure ISO RGD:1621572 D RGD:9068941 20230629 RGD mRNA:increased expression:heart PMID:33748197|REF_RGD_ID:329901854 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:6000 congestive heart failure ISO RGD:1625089 D RGD:9068941 20230520 RGD mRNA, protein:decreased expression:heart PMID:29997116|REF_RGD_ID:329812009 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:6000 congestive heart failure ISO RGD:1625089 D RGD:9068941 20230629 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:33748197|REF_RGD_ID:329901854 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:6000 congestive heart failure treatment ISO RGD:1621572 D RGD:9068941 20230525 RGD PMID:34728610|REF_RGD_ID:329812038 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:6000 congestive heart failure treatment ISO RGD:1621572 D RGD:9068941 20230629 RGD protein:increased expression:heart PMID:36120562|REF_RGD_ID:329901853 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1625089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:7693 abdominal aortic aneurysm ISO RGD:1625089 D RGD:9068941 20230629 RGD mRNA, protein:altered expression:aorta PMID:32042813|REF_RGD_ID:329901855 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9000528 Coronary Disease ISO RGD:1625089 D RGD:9068941 20230622 RGD DNA:SNP: :rs9939609 (human) PMID:26555680|REF_RGD_ID:11555922 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9001686 Acute Coronary Syndrome susceptibility ISO RGD:1625089 D RGD:9068941 20230525 RGD DNA:SNP: :rs17817449 (human) PMID:20362563|REF_RGD_ID:329813083 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1305121 D RGD:9068941 20230608 RGD protein:decreased expression:lung PMID:34310344|REF_RGD_ID:329845886 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002165 Diabetic Nephropathies ISO RGD:1625089 D RGD:9068941 20230629 RGD associated with type 2 diabetes mellitus;DNA:SNPs: :rs1121980, rs1421085, rs17817449 (human) PMID:29410390|REF_RGD_ID:329901856 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1625089 D RGD:9068941 20230525 RGD associated with diabetes mellitus;DNA:SNP: :rs17817449 (human) PMID:29154870|REF_RGD_ID:329813082 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:1625089 D RGD:9068941 20230525 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs7204609 (human) PMID:34134115|REF_RGD_ID:329813084 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002211 Hyperalgesia treatment ISO RGD:1621572 D RGD:9068941 20230520 RGD associated with Cerebral Hemorrhage PMID:34102854|REF_RGD_ID:329812008 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002231 Fetal Growth Retardation ISO RGD:1305121 D RGD:9068941 20230713 RGD mRNA:decreased expression:placenta PMID:25054679|REF_RGD_ID:329955538 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002231 Fetal Growth Retardation ISO RGD:1625089 D RGD:9068941 20230713 RGD mRNA:decreased expression:chorionic villus PMID:25054679|REF_RGD_ID:329955538 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002371 Cardiotoxicity ISO RGD:1305121 D RGD:9068941 20230708 RGD DNA:hypermethylation:promoter PMID:35462195|REF_RGD_ID:329951017 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1621572 D RGD:9068941 20230520 RGD protein:increased expression:thalamic complex PMID:34102854|REF_RGD_ID:329812008 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1625089 D RGD:7240710 20240320 OMIM 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1625089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death PMID:19559399|PMID:19833892|PMID:20299471|PMID:23505181|PMID:23825611|PMID:24289790|PMID:25741868|PMID:26378117|PMID:26820768|PMID:27105045|PMID:28492532 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003505 Venous Thromboembolism ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP: :rs1558902 (human) PMID:28528403|REF_RGD_ID:329901775 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003505 Venous Thromboembolism sexual_dimorphism ISO RGD:1625089 D RGD:9068941 20230525 RGD DNA:SNP: :rs9939609 (human) PMID:29325734|REF_RGD_ID:329812019 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9003507 Premature Birth ISO RGD:1625089 D RGD:9068941 20230608 RGD DNA:SNP: :rs9939609 (human) PMID:27768255|REF_RGD_ID:329845883 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9004581 Pediatric Obesity ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25137265 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9004581 Pediatric Obesity treatment ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP: :rs17817449 (human) PMID:26849546|REF_RGD_ID:11054066 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9004657 Weight Gain ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322899 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9005298 heart transplant rejection ISO RGD:1625089 D RGD:9068941 20230608 RGD DNA:SNP: :rs17817449 (human) PMID:30408245|REF_RGD_ID:329845888 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9006411 Testicular Injury ISO RGD:1305121 D RGD:9068941 20230708 RGD mRNA:decreased expression:testis PMID:31923814|REF_RGD_ID:329951021 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9006646 Metabolic Syndrome ISO RGD:1625089 D RGD:9068941 20230622 RGD DNA:SNPs: :rs1421085, rs1558902, rs8050136, rs9939609 (human) PMID:21796137|REF_RGD_ID:329853776 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9006646 Metabolic Syndrome ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP: :rs9939973 (human) PMID:32061761|REF_RGD_ID:329901771 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9006778 Carotid Atherosclerosis ISO RGD:1625089 D RGD:9068941 20230629 RGD DNA:SNP:intron:rs9937354 (human) PMID:36894991|REF_RGD_ID:329901850 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9007633 Body Weight ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219|PMID:22344221 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9007692 Insulin Resistance ISO RGD:1305121 D RGD:9068941 20230708 RGD mRNA, protein:increased expression:liver PMID:35945320|REF_RGD_ID:329951016 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9007692 Insulin Resistance ISO RGD:1625089 D RGD:9068941 20230525 RGD associated with diabetes mellitus;DNA:SNP: :rs9939609 (human) PMID:30273662|REF_RGD_ID:329812018 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9007692 Insulin Resistance ISO RGD:1625089 D RGD:9068941 20230525 RGD associated with obesity;DNA:SNP:intron:rs17817449 (human) PMID:21919686|REF_RGD_ID:329812040 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9007692 Insulin Resistance ISO RGD:1625089 D RGD:9068941 20230622 RGD DNA:SNPs, haplotype: :rs1121980, rs1558902, rs9939609 (human) PMID:20075932|REF_RGD_ID:329853775 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9008091 Optic Nerve Injuries ISO RGD:1305121 D RGD:9068941 20230708 RGD mRNA:increased expression:retina PMID:33664770|REF_RGD_ID:329951020 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9008939 Breast Neoplasms ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23535733 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1305121 D RGD:9068941 20230708 RGD mRNA:increased expression:blood PMID:25303482|REF_RGD_ID:329951010 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104008 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:9068941 20230622 RGD DNA:SNP: :rs9939609 (human) PMID:21294771|REF_RGD_ID:329901762 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP: :rs1421085 (human) PMID:32061761|REF_RGD_ID:329901771 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:9068941 20230624 RGD DNA:SNP:intron:rs9939609 (human) PMID:28890888|REF_RGD_ID:329901773 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1625089 D RGD:9068941 20230708 RGD mRNA:increased expression:blood PMID:25303482|REF_RGD_ID:329951010 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1625089 D RGD:9068941 20230629 RGD DNA:SNPs: :multiple PMID:29410390|REF_RGD_ID:329901856 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1625089 D RGD:9068941 20230525 RGD DNA:SNP: :rs17817449 (human) PMID:29154870|REF_RGD_ID:329813082 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9408 acute myocardial infarction ISO RGD:1625089 D RGD:9068941 20230629 RGD mRNA:increased expression:blood PMID:35693610|REF_RGD_ID:329901852 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9477 pulmonary embolism ISO RGD:1625089 D RGD:9068941 20230624 RGD associated with Venous Thrombosis;DNA:SNP:intron:rs9939609 (human) PMID:25161014|REF_RGD_ID:329901770 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9538 multiple myeloma ISO RGD:1625089 D RGD:9068941 20230622 RGD mRNA:increased expression:bone marrow PMID:34274946|REF_RGD_ID:329901767 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:1625089 D RGD:9068941 20230525 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs17817449 (human) PMID:29154870|REF_RGD_ID:329813082 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1305121 D RGD:9068941 20240125 RGD mRNA, protein:increased expression:liver PMID:35945320|REF_RGD_ID:329951016 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1305121 D RGD:9068941 20240125 RGD mRNA:increased expression:pancreas PMID:32420297|REF_RGD_ID:329951013 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism PMID:17496892|PMID:19079260|PMID:19079261|PMID:19151714|PMID:19918250|PMID:21076408 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:9068941 20240125 RGD DNA:SNP: :rs9939609 (human) PMID:23111453|REF_RGD_ID:329812010 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:9068941 20240125 RGD DNA:SNP:intron:rs17817449 (human) PMID:21919686|REF_RGD_ID:329812040 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:9068941 20240125 RGD DNA:SNP:intron:rs9939609 (human) PMID:23134754|REF_RGD_ID:329812007 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:1625089 D RGD:9068941 20240125 RGD DNA:SNPs: :rs9939609, rs1421085, rs17817449 (human) PMID:29540276|REF_RGD_ID:329845887 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity ISO RGD:736192 D RGD:9068941 20240125 RGD DNA:SNP: :rs3751812 (human) PMID:25606423|REF_RGD_ID:329901774 8942080 Fto FTO alpha-ketoglutarate dependent dioxygenase gene DOID:9970 obesity severity ISO RGD:1625089 D RGD:9068941 20230525 RGD PMID:31801409|REF_RGD_ID:329812016 8942096 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8942096 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8942096 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8942096 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8942096 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8942096 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347714 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8942096 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:12849 autistic disorder ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8942096 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1347714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942096 Kcnd1 potassium voltage-gated channel subfamily D member 1 gene DOID:9007661 Dwarfism ISO RGD:1347714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8942112 Cdca7l cell division cycle associated 7 like gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1602109 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 8942112 Cdca7l cell division cycle associated 7 like gene DOID:0110605 primary ciliary dyskinesia 7 ISO RGD:1602109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 PMID:18022865|PMID:22184204|PMID:24033266|PMID:24450482|PMID:25741868|PMID:28492532|PMID:29997923|PMID:32502479|PMID:32622824 8942112 Cdca7l cell division cycle associated 7 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8942112 Cdca7l cell division cycle associated 7 like gene DOID:630 genetic disease ISO RGD:1602109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8942112 Cdca7l cell division cycle associated 7 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602109 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:24033266|PMID:24450482|PMID:25741868|PMID:26139845|PMID:28492532|PMID:29997923|PMID:31772028|PMID:31879361|PMID:32502479|PMID:32622824 8942136 Cuedc1 CUE domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349850 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8942136 Cuedc1 CUE domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1349850 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8942159 CUNH8orf34 chromosome unknown C8orf34 homolog gene DOID:630 genetic disease ISO RGD:1605303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942198 LOC102008255 steroid 21-hydroxylase gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8942198 LOC102008255 steroid 21-hydroxylase gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1346271 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid CAH PMID:10323382|PMID:10364682|PMID:10408786|PMID:10427156|PMID:10471376|PMID:10720040|PMID:10857554|PMID:10908170|PMID:11220701|PMID:11232002|PMID:11600539|PMID:12038604|PMID:12050257|PMID:12220458|PMID:12222711|PMID:12384784|PMID:12788866|PMID:12788880|PMID:12887291|PMID:12915679|PMID:1406699|PMID:1406709|PMID:14513879|PMID:14715874|PMID:1496017|PMID:15623806|PMID:15670187|PMID:15858147|PMID:15994751|PMID:16075929|PMID:16430727|PMID:1644925|PMID:17042033|PMID:17164306|PMID:17666484|PMID:18039588|PMID:18319307|PMID:18381579|PMID:1864962|PMID:1869518|PMID:19208730|PMID:1937474|PMID:19449670|PMID:19750867|PMID:19773403|PMID:1985465|PMID:20080860|PMID:20301350|PMID:20587039|PMID:20661889|PMID:20926536|PMID:20970527|PMID:21098686|PMID:21117955|PMID:21228398|PMID:21274396|PMID:21444649|PMID:21532487|PMID:21609351|PMID:21635882|PMID:21646730|PMID:21843885|PMID:22017335|PMID:22156666|PMID:22270556|PMID:2249999|PMID:2303461|PMID:23073904|PMID:23269230|PMID:23337727|PMID:23359698|PMID:23359706|PMID:23769969|PMID:23926370|PMID:23936690|PMID:24033266|PMID:24312389|PMID:24503005|PMID:24622265|PMID:24667412|PMID:24671123|PMID:24953648|PMID:25041270|PMID:25227725|PMID:25356970|PMID:25481255|PMID:25501839|PMID:25525159|PMID:25538881|PMID:25741868|PMID:26172259|PMID:26206692|PMID:26209023|PMID:26278268|PMID:26291314|PMID:26467025|PMID:26804566|PMID:27041116|PMID:27785393|PMID:2788081|PMID:27896104|PMID:27966633|PMID:28161392|PMID:28392195|PMID:28401898|PMID:28492532|PMID:28644547|PMID:28819757|PMID:29035424|PMID:29386111|PMID:29412390|PMID:29450859|PMID:29525066|PMID:29715434|PMID:29996815|PMID:30048636|PMID:3038528|PMID:30487145|PMID:30609409|PMID:30611409|PMID:30656636|PMID:30811025|PMID:30816000|PMID:30833958|PMID:30889569|PMID:30968594|PMID:30995443|PMID:31159521|PMID:31333583|PMID:31344365|PMID:31446012|PMID:31571129|PMID:31586465|PMID:31605362|PMID:31637888|PMID:31980526|PMID:32185686|PMID:32272826|PMID:32289882|PMID:32358738|PMID:32367404|PMID:32442933|PMID:3257825|PMID:3260007|PMID:32614782|PMID:32616876|PMID:32647925|PMID:32659761|PMID:3267225|PMID:32714392|PMID:32903448|PMID:32965796|PMID:32966723|PMID:33083013|PMID:33240318|PMID:33552137|PMID:33604243|PMID:33710594|PMID:33715135|PMID:33864926|PMID:34171085|PMID:34355878|PMID:34540367|PMID:35008721|PMID:35309130|PMID:35714169|PMID:35882282|PMID:36167262|PMID:36278220|PMID:36325983|PMID:36726778|PMID:37699373|PMID:7635470|PMID:7749410|PMID:8034294|PMID:8081391|PMID:8112748|PMID:8175971|PMID:8698338|PMID:8741909|PMID:8989258|PMID:9215318|PMID:9378109|PMID:9385370|PMID:9518489|PMID:9661649 8942198 LOC102008255 steroid 21-hydroxylase gene DOID:0060041 autism spectrum disorder ISO RGD:1346271 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8942198 LOC102008255 steroid 21-hydroxylase gene DOID:0080731 Ehlers-Danlos syndrome classic-like 1 ISO RGD:1346271 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency PMID:25741868 8942198 LOC102008255 steroid 21-hydroxylase gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1346271 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868 8942198 LOC102008255 steroid 21-hydroxylase gene DOID:630 genetic disease ISO RGD:1346271 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10408786|PMID:10720040|PMID:10857554|PMID:10908170|PMID:12038604|PMID:12213891|PMID:12788880|PMID:12915679|PMID:14513879|PMID:1496017|PMID:15994751|PMID:16075929|PMID:1644925|PMID:17042033|PMID:17275379|PMID:18381579|PMID:1864962|PMID:1937474|PMID:19420818|PMID:19750867|PMID:1985465|PMID:20080860|PMID:20301350|PMID:20661889|PMID:20926536|PMID:21098686|PMID:21609351|PMID:21646730|PMID:22270556|PMID:2249999|PMID:2303461|PMID:2325662|PMID:23359698|PMID:23359706|PMID:23769969|PMID:24033266|PMID:24667412|PMID:24671123|PMID:24904866|PMID:24953648|PMID:25041270|PMID:25227725|PMID:25353971|PMID:25356970|PMID:25481255|PMID:25501839|PMID:25538881|PMID:25630015|PMID:25741868|PMID:26206692|PMID:26467025|PMID:26804566|PMID:26985347|PMID:27041116|PMID:27785393|PMID:2788081|PMID:28161392|PMID:28392195|PMID:2845408|PMID:28492532|PMID:28644547|PMID:29035424|PMID:29412390|PMID:29525066|PMID:29996815|PMID:30487145|PMID:30609409|PMID:30656636|PMID:30968594|PMID:30995443|PMID:31159521|PMID:31344365|PMID:31446012|PMID:31586465|PMID:31605362|PMID:31980526|PMID:32289882|PMID:32442933|PMID:3257825|PMID:3260007|PMID:32714392|PMID:32959514|PMID:33604243|PMID:34355878|PMID:5804199|PMID:7096533|PMID:7635470|PMID:7749410|PMID:8081391|PMID:8112748|PMID:8175971|PMID:8698338|PMID:8968761|PMID:9215318|PMID:9661649 8942198 LOC102008255 steroid 21-hydroxylase gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1346271 D RGD:7240710 20180130 OMIM 8942198 LOC102008255 steroid 21-hydroxylase gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1346271 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CYP21 deficiency | ClinVar Annotator: match by term: CYP21A2-related condition | ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:10082937|PMID:10229037|PMID:10323382|PMID:10364682|PMID:10408786|PMID:10443693|PMID:10496074|PMID:10720040|PMID:10790214|PMID:10792340|PMID:10857554|PMID:10908170|PMID:10931088|PMID:11093272|PMID:11220701|PMID:11232002|PMID:11598371|PMID:11600539|PMID:11739456|PMID:12038604|PMID:12050231|PMID:12050257|PMID:12213891|PMID:12220458|PMID:12222711|PMID:12384784|PMID:12788866|PMID:12788880|PMID:12887291|PMID:12915679|PMID:12966197|PMID:1406699|PMID:1406709|PMID:14502362|PMID:14513879|PMID:14715874|PMID:1496017|PMID:15110320|PMID:15126570|PMID:15623806|PMID:15670187|PMID:15858147|PMID:15994751|PMID:16075929|PMID:16427797|PMID:16430727|PMID:1644925|PMID:16483186|PMID:16487445|PMID:16728546|PMID:16788163|PMID:16793961|PMID:17042033|PMID:17119906|PMID:17164306|PMID:17275379|PMID:17598208|PMID:17666484|PMID:17803691|PMID:18039588|PMID:18319307|PMID:18381579|PMID:18445671|PMID:18478071|PMID:1864962|PMID:1869518|PMID:18702679|PMID:19058224|PMID:19169499|PMID:19208730|PMID:19263525|PMID:19347184|PMID:1937474|PMID:19420818|PMID:19449670|PMID:19501079|PMID:19505723|PMID:19531083|PMID:19624807|PMID:19750867|PMID:19773403|PMID:19778530|PMID:1985465|PMID:19856253|PMID:19961824|PMID:20080860|PMID:20233785|PMID:20301350|PMID:20587039|PMID:20661889|PMID:2072928|PMID:20818501|PMID:20838032|PMID:20926536|PMID:20970527|PMID:21098686|PMID:21117955|PMID:21134444|PMID:21169732|PMID:21228398|PMID:21274396|PMID:21329531|PMID:21444649|PMID:21521936|PMID:21532487|PMID:21534945|PMID:21609351|PMID:21635882|PMID:21646284|PMID:21646730|PMID:21750395|PMID:21843885|PMID:22017335|PMID:22156666|PMID:22262854|PMID:22270556|PMID:22313422|PMID:2249999|PMID:22629504|PMID:22841790|PMID:22985688|PMID:2303461|PMID:23073904|PMID:23142378|PMID:23166432|PMID:23241443|PMID:2325662|PMID:23269230|PMID:23322511|PMID:23337727|PMID:23342490|PMID:23359698|PMID:23359706|PMID:23570880|PMID:23769969|PMID:23926370|PMID:23927611|PMID:23936690|PMID:24033266|PMID:24071710|PMID:24077358|PMID:24196000|PMID:24312389|PMID:24503005|PMID:24622265|PMID:24667412|PMID:24671123|PMID:24778650|PMID:24799024|PMID:24904866|PMID:24953648|PMID:25041270|PMID:25121463|PMID:25195868|PMID:25227725|PMID:25353971|PMID:25356970|PMID:25481255|PMID:25501839|PMID:25525159|PMID:25538881|PMID:25553759|PMID:25630015|PMID:25741868|PMID:25855791|PMID:26172259|PMID:26184415|PMID:2620669|PMID:26206692|PMID:26209023|PMID:26278268|PMID:26291314|PMID:26300845|PMID:26425475|PMID:26467025|PMID:26804566|PMID:26985347|PMID:27041116|PMID:27082632|PMID:27185867|PMID:27721825|PMID:27785393|PMID:2788081|PMID:27890570|PMID:27896104|PMID:27966633|PMID:28161392|PMID:2827462|PMID:28275658|PMID:28392195|PMID:28401898|PMID:2845408|PMID:28487735|PMID:28492532|PMID:28539365|PMID:28644547|PMID:28676275|PMID:28741757|PMID:28819757|PMID:29035424|PMID:29074860|PMID:29266270|PMID:29386111|PMID:29412390|PMID:29450859|PMID:29525066|PMID:29684512|PMID:29715434|PMID:29892641|PMID:29996815|PMID:30048636|PMID:3038528|PMID:30419250|PMID:30487145|PMID:30609409|PMID:30611409|PMID:30656636|PMID:30811025|PMID:30816000|PMID:30833958|PMID:30889569|PMID:30968594|PMID:30995443|PMID:31159521|PMID:31333583|PMID:31344365|PMID:31446012|PMID:31571129|PMID:31586465|PMID:31605362|PMID:31637888|PMID:31980526|PMID:32185686|PMID:32236851|PMID:32272826|PMID:32289882|PMID:32358738|PMID:32367404|PMID:32442933|PMID:3257825|PMID:3260007|PMID:3260033|PMID:32614782|PMID:32616876|PMID:32647925|PMID:32659761|PMID:3267225|PMID:32714392|PMID:32838438|PMID:32903448|PMID:32959514|PMID:32965796|PMID:32966723|PMID:33017824|PMID:33083013|PMID:33240318|PMID:33552137|PMID:33604243|PMID:33666875|PMID:33710594|PMID:33715135|PMID:33809035|PMID:33864926|PMID:34171085|PMID:34355878|PMID:34540367|PMID:34718183|PMID:34821488|PMID:35079965|PMID:35094236|PMID:35112591|PMID:35309130|PMID:35714169|PMID:35882282|PMID:36167262|PMID:36325983|PMID:36341008|PMID:36726778|PMID:36873089|PMID:37011374|PMID:37699373|PMID:5804199|PMID:7096533|PMID:7635470|PMID:7749410|PMID:8034294|PMID:8081391 8942198 LOC102008255 steroid 21-hydroxylase gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1346271 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CYP21 deficiency | ClinVar Annotator: match by term: CYP21A2-related condition | ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:8112748|PMID:8175971|PMID:8478006|PMID:8518786|PMID:8698338|PMID:8731325|PMID:8741909|PMID:8968761|PMID:8989258|PMID:9067760|PMID:9099839|PMID:9187661|PMID:9215318|PMID:9378109|PMID:9385370|PMID:9497336|PMID:9518489|PMID:9661649 8942198 LOC102008255 steroid 21-hydroxylase gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:1346271 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism PMID:10323382|PMID:10364682|PMID:10720040|PMID:11232002|PMID:11600539|PMID:12050257|PMID:12222711|PMID:12788866|PMID:12887291|PMID:1406699|PMID:1406709|PMID:1496017|PMID:18381579|PMID:19208730|PMID:20301350|PMID:20926536|PMID:21228398|PMID:21274396|PMID:21444649|PMID:21635882|PMID:21843885|PMID:22017335|PMID:22270556|PMID:23073904|PMID:23359706|PMID:24953648|PMID:25481255|PMID:25538881|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28644547|PMID:29996815|PMID:30968594|PMID:31333583|PMID:31586465|PMID:32616876|PMID:32966723|PMID:8989258 8942198 LOC102008255 steroid 21-hydroxylase gene DOID:9009048 Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency ISO RGD:1346271 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency PMID:12050257|PMID:23359698|PMID:25741868|PMID:29035424|PMID:30611409|PMID:33552137 8942216 Ubn2 ubinuclein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:2302451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28263302 8942216 Ubn2 ubinuclein 2 gene DOID:0080690 RASopathy ISO RGD:2302451 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8942216 Ubn2 ubinuclein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2302451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8942216 Ubn2 ubinuclein 2 gene DOID:630 genetic disease ISO RGD:2302451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942238 Fcho2 FCH and mu domain containing endocytic adaptor 2 gene DOID:630 genetic disease ISO RGD:1348405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942238 Fcho2 FCH and mu domain containing endocytic adaptor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8942271 Rec8 REC8 meiotic recombination protein gene DOID:0060439 lysinuric protein intolerance ISO RGD:1319692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8942271 Rec8 REC8 meiotic recombination protein gene DOID:0070168 spermatogenic failure 3 ISO RGD:1319692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:31479588 8942271 Rec8 REC8 meiotic recombination protein gene DOID:14227 azoospermia ISO RGD:1319692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8942271 Rec8 REC8 meiotic recombination protein gene DOID:1909 melanoma ISO RGD:1319692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8942271 Rec8 REC8 meiotic recombination protein gene DOID:5426 primary ovarian insufficiency ISO RGD:1319692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8942271 Rec8 REC8 meiotic recombination protein gene DOID:630 genetic disease ISO RGD:1319692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942271 Rec8 REC8 meiotic recombination protein gene DOID:9000265 Specific Granule Deficiency ISO RGD:1319692 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8942271 Rec8 REC8 meiotic recombination protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8942271 Rec8 REC8 meiotic recombination protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1319692 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8942296 Ranbp3l RAN binding protein 3 like gene DOID:630 genetic disease ISO RGD:1602423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942296 Ranbp3l RAN binding protein 3 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8942319 Prom2 prominin 2 gene DOID:630 genetic disease ISO RGD:1353767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942378 Wdr27 WD repeat domain 27 gene DOID:630 genetic disease ISO RGD:1351994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942418 Kif1b kinesin family member 1B gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:732615 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a PMID:24694336|PMID:25741868|PMID:28492532 8942418 Kif1b kinesin family member 1B gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 8942418 Kif1b kinesin family member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732615 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:25025039|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29590070|PMID:30126838|PMID:32376792|PMID:9536098 8942418 Kif1b kinesin family member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28166811|PMID:28492532|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:32376792|PMID:32419263|PMID:33362715|PMID:9536098 8942418 Kif1b kinesin family member 1B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:732615 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16199547|PMID:17576681|PMID:18334619|PMID:18726616|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25640679|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28492532|PMID:28637693|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:32376792|PMID:32419263|PMID:33112832|PMID:33362715|PMID:34169998|PMID:9536098 8942418 Kif1b kinesin family member 1B gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 8942418 Kif1b kinesin family member 1B gene DOID:0050771 pheochromocytoma ISO RGD:732615 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:24033266|PMID:25741868|PMID:26392352|PMID:28492532|PMID:32376792|PMID:32419263 8942418 Kif1b kinesin family member 1B gene DOID:0050890 synucleinopathy ISO RGD:621520 D RGD:9068941 20200609 RGD protein:decreased expression:striatum, membrane (rat) PMID:19295143|REF_RGD_ID:11049591 8942418 Kif1b kinesin family member 1B gene DOID:0050892 adrenal gland pheochromocytoma ISO RGD:732615 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Adrenal gland pheochromocytoma PMID:25741868 8942418 Kif1b kinesin family member 1B gene DOID:0060249 scoliosis ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 8942418 Kif1b kinesin family member 1B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:732615 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8942418 Kif1b kinesin family member 1B gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Guérin-Stern syndrome PMID:25741868 8942418 Kif1b kinesin family member 1B gene DOID:0110154 Charcot-Marie-Tooth disease type 2A1 ISO RGD:732615 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A1 | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1 PMID:11389829|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29590070|PMID:30126838|PMID:32376792|PMID:9409358 8942418 Kif1b kinesin family member 1B gene DOID:0110154 Charcot-Marie-Tooth disease type 2A1 susceptibility ISO RGD:732615 D RGD:7240710 20240320 OMIM 8942418 Kif1b kinesin family member 1B gene DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant PMID:25741868|PMID:28492532 8942418 Kif1b kinesin family member 1B gene DOID:0111936 immunodeficiency 14 ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8942418 Kif1b kinesin family member 1B gene DOID:1059 intellectual disability ISO RGD:732615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8942418 Kif1b kinesin family member 1B gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:732615 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17576681|PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:25802885|PMID:28492532|PMID:29590070|PMID:30126838|PMID:32376792|PMID:9536098 8942418 Kif1b kinesin family member 1B gene DOID:12306 vitiligo ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vitiligo PMID:25741868|PMID:28492532 8942418 Kif1b kinesin family member 1B gene DOID:1612 breast cancer ISO RGD:732615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:18334619|PMID:24469107|PMID:24694336|PMID:25741868|PMID:28492532 8942418 Kif1b kinesin family member 1B gene DOID:2152 ovary epithelial cancer susceptibility ISO RGD:732615 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2537+518A>G (rs17401966) (human) PMID:25854172|REF_RGD_ID:12738465 8942418 Kif1b kinesin family member 1B gene DOID:2377 multiple sclerosis ISO RGD:732615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18997785 8942418 Kif1b kinesin family member 1B gene DOID:2377 multiple sclerosis no_association ISO RGD:732615 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1590+932T>C (rs10492972) (human) PMID:20502484|REF_RGD_ID:12738463 8942418 Kif1b kinesin family member 1B gene DOID:2377 multiple sclerosis susceptibility ISO RGD:732615 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1590+932T>C (rs10492972) (human) PMID:18997785|REF_RGD_ID:12738462 8942418 Kif1b kinesin family member 1B gene DOID:2394 ovarian cancer ISO RGD:732615 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8942418 Kif1b kinesin family member 1B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:621520 D RGD:9068941 20200609 RGD mRNA:decreased expression:precentral gyrus (human) PMID:17418584|REF_RGD_ID:12738468 8942418 Kif1b kinesin family member 1B gene DOID:332 amyotrophic lateral sclerosis onset ISO RGD:1317949 D RGD:9068941 20200609 RGD mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse) PMID:24904291|REF_RGD_ID:12738469 8942418 Kif1b kinesin family member 1B gene DOID:630 genetic disease ISO RGD:732615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942418 Kif1b kinesin family member 1B gene DOID:684 hepatocellular carcinoma severity ISO RGD:732615 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (human) PMID:26217094|REF_RGD_ID:11052488 8942418 Kif1b kinesin family member 1B gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:732615 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2537+518A>G (rs17401966) (human) PMID:27122668|REF_RGD_ID:12738461 8942418 Kif1b kinesin family member 1B gene DOID:769 neuroblastoma ISO RGD:732615 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1 PMID:18334619|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25741868|PMID:28492532|PMID:30126838|PMID:30487145|PMID:32376792|PMID:33362715 8942418 Kif1b kinesin family member 1B gene DOID:769 neuroblastoma susceptibility ISO RGD:732615 D RGD:7240710 20240320 OMIM 8942418 Kif1b kinesin family member 1B gene DOID:9005077 Joint Instability ISO RGD:732615 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joint laxity PMID:25741868|PMID:26392352|PMID:28492532 8942418 Kif1b kinesin family member 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732615 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:16199547|PMID:17576681|PMID:18334619|PMID:18726616|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28492532|PMID:28637693|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:32376792|PMID:32419263|PMID:32565791|PMID:33112832|PMID:33362715|PMID:34169998|PMID:9536098 8942418 Kif1b kinesin family member 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732615 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18334619|PMID:18726616|PMID:24033266|PMID:24469107|PMID:24694336|PMID:25025039|PMID:25741868|PMID:26257172|PMID:26392352|PMID:28492532|PMID:28637693|PMID:29590070|PMID:30126838|PMID:30487145|PMID:31130284|PMID:31372974|PMID:32376792|PMID:32419263|PMID:32565791|PMID:33112832|PMID:33362715|PMID:34169998|PMID:9536098 8942418 Kif1b kinesin family member 1B gene DOID:9008086 Developmental Disabilities ISO RGD:732615 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 8942469 Cert1 ceramide transporter 1 gene DOID:0070064 autosomal dominant intellectual developmental disorder 34 ISO RGD:1319300 D RGD:7240710 20180130 OMIM 8942469 Cert1 ceramide transporter 1 gene DOID:0070064 autosomal dominant intellectual developmental disorder 34 ISO RGD:1319300 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 34 PMID:25533962|PMID:25741868 8942469 Cert1 ceramide transporter 1 gene DOID:1059 intellectual disability ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8942469 Cert1 ceramide transporter 1 gene DOID:10907 microcephaly ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8942469 Cert1 ceramide transporter 1 gene DOID:12849 autistic disorder ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25363768 8942469 Cert1 ceramide transporter 1 gene DOID:1826 epilepsy ISO RGD:1319300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8942469 Cert1 ceramide transporter 1 gene DOID:3323 Sandhoff disease ISO RGD:1319300 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 8942469 Cert1 ceramide transporter 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319300 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 8942469 Cert1 ceramide transporter 1 gene DOID:630 genetic disease ISO RGD:1319300 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17442665|PMID:23033978|PMID:25356899|PMID:25533962|PMID:25741868|PMID:28135719 8942469 Cert1 ceramide transporter 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8942469 Cert1 ceramide transporter 1 gene DOID:9005775 Perinatal Asphyxia ISO RGD:1309131 D RGD:9068941 20230302 RGD PMID:23625371|REF_RGD_ID:156431056 8942528 Ippk inositol-pentakisphosphate 2-kinase gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1322638 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 8942528 Ippk inositol-pentakisphosphate 2-kinase gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1322638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 8942528 Ippk inositol-pentakisphosphate 2-kinase gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1322638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 8942528 Ippk inositol-pentakisphosphate 2-kinase gene DOID:630 genetic disease ISO RGD:1322638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942549 Alkbh2 alkB homolog 2, alpha-ketoglutarate dependent dioxygenase gene DOID:630 genetic disease ISO RGD:1605008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942557 Slc25a28 solute carrier family 25 member 28 gene DOID:630 genetic disease ISO RGD:1312988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942565 Syt9 synaptotagmin 9 gene DOID:630 genetic disease ISO RGD:1354462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:0050456 Buruli ulcer disease ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Buruli ulcer, susceptibility to PMID:16395392 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:0050456 Buruli ulcer disease susceptibility ISO RGD:736532 D RGD:7240710 20190502 OMIM 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:point mutation:promoter:-237C>T (human) PMID:16059695|REF_RGD_ID:5684952 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms: :1730G>A (human) PMID:21128323|REF_RGD_ID:5684929 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:0060180 colitis ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:19016783|REF_RGD_ID:5684975 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:deletion:3' utr:*55_*58delTGTG (human) PMID:16734634|REF_RGD_ID:5684949 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:0080176 meningococcal meningitis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:1024 leprosy ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:1024 leprosy ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype (human) PMID:10608779|REF_RGD_ID:5684972 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:1024 leprosy susceptibility ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:15755200|REF_RGD_ID:5684957 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, polymorphism:promoter, cds:p.D543N (human) PMID:16516037|REF_RGD_ID:5684951 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:11335 sarcoidosis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:11335 sarcoidosis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, SNP:promoter, intron (human) PMID:22160516|REF_RGD_ID:5684925 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:13241 Behcet's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:18998137|REF_RGD_ID:5684936 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:13622 campylobacteriosis ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:18656410|REF_RGD_ID:5684976 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:2377 multiple sclerosis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:2377 multiple sclerosis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:18973068|REF_RGD_ID:5684937 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:2377 multiple sclerosis no_association ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human) PMID:15584484|REF_RGD_ID:5684960 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:2841 asthma ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:12847242|REF_RGD_ID:5684966 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:intron (human) PMID:21169917|REF_RGD_ID:5684974 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:736532 D RGD:9068941 20200716 RGD DNA:deletion:3'UTR: PMID:24024195|REF_RGD_ID:36049753 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:3021 acute kidney failure ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:3044 food allergy ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:3310 atopic dermatitis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:399 tuberculosis ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by PMID:16103355|PMID:25741868 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:399 tuberculosis susceptibility ISO RGD:736532 D RGD:7240710 20190502 OMIM 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:418 systemic scleroderma ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, polymorphism:promoter, intron: (human) PMID:17876529|REF_RGD_ID:5684940 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:630 genetic disease ISO RGD:736532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:10857800|REF_RGD_ID:5684977 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms, deletion: :823C>T, p.D543N (human) PMID:10719815|REF_RGD_ID:5684971 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:7148 rheumatoid arthritis severity ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:12135431|REF_RGD_ID:5684967 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:8577 ulcerative colitis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16059695 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:8577 ulcerative colitis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:11929588|REF_RGD_ID:5684968 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:8577 ulcerative colitis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:transition, repeat:promoter:-237C>T (human) PMID:18340647|REF_RGD_ID:5684939 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16059695 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:insertion/deletion:3' utr (human) PMID:18340647|REF_RGD_ID:5684939 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:point mutation:promoter:-237C>T (human) PMID:16059695|REF_RGD_ID:5684952 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism: :823C>T (human) PMID:17131479|REF_RGD_ID:5684942 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:11929588|REF_RGD_ID:5684968 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat, polymorphisms:promoter, intron:p.D543N (human) PMID:18454481|REF_RGD_ID:5684938 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease no_association ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:15757519|REF_RGD_ID:5684956 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:8778 Crohn's disease no_association ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter (human) PMID:17385031|REF_RGD_ID:5684941 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9000099 Experimental Colitis ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:19116231|REF_RGD_ID:5684934 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:736533 D RGD:9068941 20200609 RGD DNA:point mutation (mouse) PMID:11821237|REF_RGD_ID:5684969 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:17122779|REF_RGD_ID:5684943 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter (human) PMID:14960532|REF_RGD_ID:5684961 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:14734525|REF_RGD_ID:5684962 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9005372 Inflammation ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:17035062|REF_RGD_ID:5684948 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9005723 Multibacillary Leprosy ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:insertion/deletion:3' utr (human) PMID:11791966|REF_RGD_ID:5684970 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:deletion:3' utr: (human) PMID:21233146|REF_RGD_ID:5684928 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9111 cutaneous leishmaniasis ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:insertion/deletion (human) PMID:20089160|REF_RGD_ID:5684930 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9146 visceral leishmaniasis ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9146 visceral leishmaniasis ISO RGD:736532 D RGD:9068941 20200609 RGD PMID:17067929|REF_RGD_ID:5684944 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16597321 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3731865 (human) PMID:21524304|REF_RGD_ID:5684926 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:polymorphism: :274C>T (human) PMID:19768110|REF_RGD_ID:5684932 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736533 D RGD:9068941 20200609 RGD PMID:16550170|REF_RGD_ID:5684950 8942585 Slc11a1 solute carrier family 11 member 1 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:736532 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:15877293|REF_RGD_ID:5684955 8942620 Rgs18 regulator of G protein signaling 18 gene DOID:1540 parathyroid carcinoma ISO RGD:1315187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8942620 Rgs18 regulator of G protein signaling 18 gene DOID:630 genetic disease ISO RGD:1315187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942620 Rgs18 regulator of G protein signaling 18 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1315187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 8942620 Rgs18 regulator of G protein signaling 18 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8942629 Pcare photoreceptor cilium actin regulator gene DOID:0050572 cone-rod dystrophy ISO RGD:2298744 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration PMID:20398886|PMID:24339724|PMID:25741868|PMID:26496393|PMID:28492532|PMID:28763557 8942629 Pcare photoreceptor cilium actin regulator gene DOID:0050817 Stargardt disease ISO RGD:2298744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:20398884|PMID:20398886|PMID:24339724|PMID:26496393|PMID:28492532|PMID:32312818|PMID:4543597 8942629 Pcare photoreceptor cilium actin regulator gene DOID:0110364 retinitis pigmentosa 54 ISO RGD:2298744 D RGD:7240710 20180130 OMIM 8942629 Pcare photoreceptor cilium actin regulator gene DOID:0110364 retinitis pigmentosa 54 ISO RGD:2298744 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 23 | ClinVar Annotator: match by term: PCARE-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 54 PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:24339724|PMID:25741868|PMID:26496393|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:31725702|PMID:31819343|PMID:31872526|PMID:32312818|PMID:33546218|PMID:33576794|PMID:34906470|PMID:34964967|PMID:4543597 8942629 Pcare photoreceptor cilium actin regulator gene DOID:10584 retinitis pigmentosa ISO RGD:2298744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:23105016|PMID:24339724|PMID:24780881|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26497376|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:30054919|PMID:30718709|PMID:31725702|PMID:33546218 8942629 Pcare photoreceptor cilium actin regulator gene DOID:10584 retinitis pigmentosa ISO RGD:2298744 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20398884|PMID:20398886|PMID:20811058|PMID:21412943|PMID:23105016|PMID:24339724|PMID:24780881|PMID:25741868|PMID:26306921|PMID:26496393|PMID:26497376|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:30054919|PMID:30718709|PMID:31725702|PMID:33546218|PMID:34906470 8942629 Pcare photoreceptor cilium actin regulator gene DOID:8501 fundus dystrophy ISO RGD:2298744 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20398886|PMID:21412943|PMID:23105016|PMID:24339724|PMID:25741868|PMID:26496393|PMID:27353947|PMID:28041643|PMID:28492532|PMID:28763557|PMID:33546218|PMID:33576794|PMID:34906470|PMID:34964967 8942629 Pcare photoreceptor cilium actin regulator gene DOID:9009095 Neuroblastoma 3 ISO RGD:2298744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 8942642 Fbxw10b F-box and WD repeat domain containing 10B gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1350394 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome PMID:12439896|PMID:18698610|PMID:21670407|PMID:7825607|PMID:8422677|PMID:8541860 8942642 Fbxw10b F-box and WD repeat domain containing 10B gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:1350394 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Tomaculous neuropathy PMID:12439896|PMID:18698610|PMID:21670407|PMID:7825607|PMID:8422677|PMID:8541860 8942642 Fbxw10b F-box and WD repeat domain containing 10B gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1350394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 8942642 Fbxw10b F-box and WD repeat domain containing 10B gene DOID:12849 autistic disorder ISO RGD:1350394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8942661 Sytl4 synaptotagmin like 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:734138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8942661 Sytl4 synaptotagmin like 4 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:734138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 8942661 Sytl4 synaptotagmin like 4 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:734138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8942661 Sytl4 synaptotagmin like 4 gene DOID:12849 autistic disorder ISO RGD:734138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8942661 Sytl4 synaptotagmin like 4 gene DOID:630 genetic disease ISO RGD:734138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942661 Sytl4 synaptotagmin like 4 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:734138 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 8942682 Evi5 ecotropic viral integration site 5 gene DOID:0112131 severe congenital neutropenia 2 ISO RGD:1350871 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant PMID:28492532 8942682 Evi5 ecotropic viral integration site 5 gene DOID:630 genetic disease ISO RGD:1350871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942710 Pigy phosphatidylinositol glycan anchor biosynthesis class Y gene DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome ISO RGD:1605909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8942710 Pigy phosphatidylinositol glycan anchor biosynthesis class Y gene DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 ISO RGD:1605909 D RGD:7240710 20190315 OMIM 8942710 Pigy phosphatidylinositol glycan anchor biosynthesis class Y gene DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 ISO RGD:1605909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 PMID:25741868|PMID:26293662|PMID:28492532 8942710 Pigy phosphatidylinositol glycan anchor biosynthesis class Y gene DOID:630 genetic disease ISO RGD:1605909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942710 Pigy phosphatidylinositol glycan anchor biosynthesis class Y gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1605909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8942715 Exosc1 exosome component 1 gene DOID:0112331 pontocerebellar hypoplasia type 1F ISO RGD:1352643 D RGD:7240710 20210526 OMIM 8942715 Exosc1 exosome component 1 gene DOID:0112331 pontocerebellar hypoplasia type 1F ISO RGD:1352643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1F PMID:33463720 8942715 Exosc1 exosome component 1 gene DOID:630 genetic disease ISO RGD:1352643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942729 Atg12 autophagy related 12 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314851 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8942729 Atg12 autophagy related 12 gene DOID:12849 autistic disorder ISO RGD:1314851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8942729 Atg12 autophagy related 12 gene DOID:630 genetic disease ISO RGD:1314851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942729 Atg12 autophagy related 12 gene DOID:9000998 Brain Injuries ISO RGD:1306306 D RGD:9068941 20200609 RGD protein:altered localization:brain PMID:18059433|REF_RGD_ID:2301217 8942729 Atg12 autophagy related 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8942729 Atg12 autophagy related 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314851 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8942737 Fmn1 formin 1 gene DOID:630 genetic disease ISO RGD:1606398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8942774 Pcf11 PCF11 cleavage and polyadenylation factor subunit gene DOID:1059 intellectual disability ISO RGD:1604812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8942774 Pcf11 PCF11 cleavage and polyadenylation factor subunit gene DOID:630 genetic disease ISO RGD:1604812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942774 Pcf11 PCF11 cleavage and polyadenylation factor subunit gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1604812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia 8942833 Znf341 zinc finger protein 341 gene DOID:0080595 hyper IgE recurrent infection syndrome 3 ISO RGD:1346802 D RGD:7240710 20190315 OMIM 8942833 Znf341 zinc finger protein 341 gene DOID:0080595 hyper IgE recurrent infection syndrome 3 ISO RGD:1346802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive PMID:25741868|PMID:28492532|PMID:29907690|PMID:29907691 8942833 Znf341 zinc finger protein 341 gene DOID:2843 long QT syndrome ISO RGD:1346802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532 8942833 Znf341 zinc finger protein 341 gene DOID:630 genetic disease ISO RGD:1346802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8942854 Osbpl2 oxysterol binding protein like 2 gene DOID:0110588 autosomal dominant nonsyndromic deafness 67 ISO RGD:1322700 D RGD:9068941 20220908 MouseDO OMIM:616340 8942875 Wdr54 WD repeat domain 54 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1347717 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8942875 Wdr54 WD repeat domain 54 gene DOID:543 dystonia ISO RGD:1347717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8942875 Wdr54 WD repeat domain 54 gene DOID:630 genetic disease ISO RGD:1347717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942875 Wdr54 WD repeat domain 54 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347717 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8942894 Ferry3 FERRY endosomal RAB5 effector complex subunit 3 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 8942894 Ferry3 FERRY endosomal RAB5 effector complex subunit 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1322478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8942894 Ferry3 FERRY endosomal RAB5 effector complex subunit 3 gene DOID:0081227 autosomal recessive intellectual developmental disorder 66 ISO RGD:1322478 D RGD:7240710 20190315 OMIM 8942894 Ferry3 FERRY endosomal RAB5 effector complex subunit 3 gene DOID:0081227 autosomal recessive intellectual developmental disorder 66 ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive 66 PMID:25558065|PMID:25741868|PMID:27311568|PMID:28097321|PMID:31334606 8942894 Ferry3 FERRY endosomal RAB5 effector complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25558065|PMID:27311568 8942894 Ferry3 FERRY endosomal RAB5 effector complex subunit 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:25558065|PMID:27311568 8942894 Ferry3 FERRY endosomal RAB5 effector complex subunit 3 gene DOID:630 genetic disease ISO RGD:1322478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942894 Ferry3 FERRY endosomal RAB5 effector complex subunit 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25558065|PMID:27311568 8942894 Ferry3 FERRY endosomal RAB5 effector complex subunit 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1322478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8942927 Sprtn SprT-like N-terminal domain gene DOID:0111264 Ruijs-Aalfs syndrome ISO RGD:1605027 D RGD:7240710 20180130 OMIM 8942927 Sprtn SprT-like N-terminal domain gene DOID:0111264 Ruijs-Aalfs syndrome ISO RGD:1605027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome PMID:12503110|PMID:25261934|PMID:25741868 8942927 Sprtn SprT-like N-terminal domain gene DOID:1540 parathyroid carcinoma ISO RGD:1605027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8942927 Sprtn SprT-like N-terminal domain gene DOID:3911 progeria ISO RGD:1605027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261934 8942927 Sprtn SprT-like N-terminal domain gene DOID:630 genetic disease ISO RGD:1605027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942927 Sprtn SprT-like N-terminal domain gene DOID:684 hepatocellular carcinoma ISO RGD:1605027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261934 8942927 Sprtn SprT-like N-terminal domain gene DOID:9002981 Genomic Instability ISO RGD:1605027 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261934 8942927 Sprtn SprT-like N-terminal domain gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1605027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8942927 Sprtn SprT-like N-terminal domain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8942950 Pnpla1 patatin like phospholipase domain containing 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1315443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8942950 Pnpla1 patatin like phospholipase domain containing 1 gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1315443 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis PMID:22246504|PMID:24344921|PMID:25741868|PMID:26691440|PMID:26778108|PMID:28093717|PMID:28369476|PMID:28403545|PMID:28492532|PMID:33786896|PMID:35970721|PMID:3757302 8942950 Pnpla1 patatin like phospholipase domain containing 1 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 ISO RGD:1315443 D RGD:7240710 20180130 OMIM 8942950 Pnpla1 patatin like phospholipase domain containing 1 gene DOID:0060719 autosomal recessive congenital ichthyosis 10 ISO RGD:1315443 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 | ClinVar Annotator: match by term: PNPLA1-related condition PMID:22246504|PMID:23352160|PMID:24033266|PMID:24344921|PMID:25741868|PMID:26424960|PMID:26691440|PMID:26778108|PMID:27884173|PMID:27884779|PMID:28093717|PMID:28369476|PMID:28403545|PMID:28492532|PMID:29624231|PMID:30290227|PMID:30409984|PMID:31120544|PMID:33727708|PMID:34899144|PMID:35893253|PMID:35970721|PMID:3757302 8942950 Pnpla1 patatin like phospholipase domain containing 1 gene DOID:1697 ichthyosis ISO RGD:1315443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis PMID:26691440|PMID:26778108 8942950 Pnpla1 patatin like phospholipase domain containing 1 gene DOID:630 genetic disease ISO RGD:1315443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8942963 Plp2 proteolipid protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8942963 Plp2 proteolipid protein 2 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8942963 Plp2 proteolipid protein 2 gene DOID:0080600 COVID-19 ISO RGD:1349250 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8942963 Plp2 proteolipid protein 2 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8942963 Plp2 proteolipid protein 2 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8942963 Plp2 proteolipid protein 2 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8942963 Plp2 proteolipid protein 2 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8942963 Plp2 proteolipid protein 2 gene DOID:12849 autistic disorder ISO RGD:1349250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8942963 Plp2 proteolipid protein 2 gene DOID:630 genetic disease ISO RGD:1349250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942972 Pttg1ip PTTG1 interacting protein gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1314337 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 8942972 Pttg1ip PTTG1 interacting protein gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1314337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8942972 Pttg1ip PTTG1 interacting protein gene DOID:0110266 cataract 9 multiple types ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8942972 Pttg1ip PTTG1 interacting protein gene DOID:12849 autistic disorder ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8942972 Pttg1ip PTTG1 interacting protein gene DOID:630 genetic disease ISO RGD:1314337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8942972 Pttg1ip PTTG1 interacting protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1314337 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8942972 Pttg1ip PTTG1 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8942972 Pttg1ip PTTG1 interacting protein gene DOID:9263 homocystinuria ISO RGD:1314337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8942972 Pttg1ip PTTG1 interacting protein gene DOID:9562 primary ciliary dyskinesia ISO RGD:1314337 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8943000 Mmp24 matrix metallopeptidase 24 gene DOID:630 genetic disease ISO RGD:732592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943000 Mmp24 matrix metallopeptidase 24 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869830 8943019 Trpc3 transient receptor potential cation channel subfamily C member 3 gene DOID:0111744 cerebellar ataxia type 41 ISO RGD:733864 D RGD:7240710 20180130 OMIM 8943019 Trpc3 transient receptor potential cation channel subfamily C member 3 gene DOID:0111744 cerebellar ataxia type 41 ISO RGD:733864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 PMID:25477146|PMID:25741868|PMID:28492532 8943019 Trpc3 transient receptor potential cation channel subfamily C member 3 gene DOID:10763 hypertension ISO RGD:733864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17351372 8943019 Trpc3 transient receptor potential cation channel subfamily C member 3 gene DOID:3312 bipolar disorder ISO RGD:733864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23602965 8943019 Trpc3 transient receptor potential cation channel subfamily C member 3 gene DOID:630 genetic disease ISO RGD:733864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943019 Trpc3 transient receptor potential cation channel subfamily C member 3 gene DOID:6432 pulmonary hypertension ISO RGD:733864 D RGD:9068941 20200609 RGD PMID:15358862|REF_RGD_ID:1580490 8943019 Trpc3 transient receptor potential cation channel subfamily C member 3 gene DOID:9001542 Albuminuria ISO RGD:61973 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA, protein:increased expression:kidney cortex PMID:19887786|REF_RGD_ID:7247603 8943019 Trpc3 transient receptor potential cation channel subfamily C member 3 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:733864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8943019 Trpc3 transient receptor potential cation channel subfamily C member 3 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:733864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8943019 Trpc3 transient receptor potential cation channel subfamily C member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8943039 Ociad2 OCIA domain containing 2 gene DOID:630 genetic disease ISO RGD:1349620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943052 Arhgef37 Rho guanine nucleotide exchange factor 37 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602402 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8943052 Arhgef37 Rho guanine nucleotide exchange factor 37 gene DOID:630 genetic disease ISO RGD:1602402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943052 Arhgef37 Rho guanine nucleotide exchange factor 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8943052 Arhgef37 Rho guanine nucleotide exchange factor 37 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602402 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1601852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1601852 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1601852 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1601852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1601852 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1601852 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:5419 schizophrenia ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:630 genetic disease ISO RGD:1601852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1601852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8943084 Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 gene DOID:9455 lipid storage disease ISO RGD:1601852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 8943106 CUNH14orf119 chromosome unknown C14orf119 homolog gene DOID:0060439 lysinuric protein intolerance ISO RGD:1318193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8943106 CUNH14orf119 chromosome unknown C14orf119 homolog gene DOID:0080600 COVID-19 ISO RGD:1318193 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8943106 CUNH14orf119 chromosome unknown C14orf119 homolog gene DOID:9000265 Specific Granule Deficiency ISO RGD:1318193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8943106 CUNH14orf119 chromosome unknown C14orf119 homolog gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1318193 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8943123 Shb SH2 domain containing adaptor protein B gene DOID:630 genetic disease ISO RGD:1350494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943139 Dclre1b DNA cross-link repair 1B gene DOID:0080690 RASopathy ISO RGD:1321192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8943139 Dclre1b DNA cross-link repair 1B gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:25741868|PMID:28492532 8943139 Dclre1b DNA cross-link repair 1B gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:1321192 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:25741868 8943139 Dclre1b DNA cross-link repair 1B gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321192 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 8943139 Dclre1b DNA cross-link repair 1B gene DOID:630 genetic disease ISO RGD:1321192 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8943139 Dclre1b DNA cross-link repair 1B gene DOID:9001272 Hoyeraal Hreidarsson Syndrome ISO RGD:1321192 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:35007328|PMID:9536098 8943139 Dclre1b DNA cross-link repair 1B gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1321192 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita PMID:25741868|PMID:28492532 8943139 Dclre1b DNA cross-link repair 1B gene DOID:9005448 Autosomal Recessive Dyskeratosis Congenita 8 ISO RGD:1321192 D RGD:7240710 20221214 OMIM 8943139 Dclre1b DNA cross-link repair 1B gene DOID:9005448 Autosomal Recessive Dyskeratosis Congenita 8 ISO RGD:1321192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 8 PMID:28492532|PMID:35007328 8943144 Ada2 adenosine deaminase 2 gene DOID:0080600 COVID-19 ISO RGD:1353390 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8943144 Ada2 adenosine deaminase 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1353390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8943144 Ada2 adenosine deaminase 2 gene DOID:106 pleural tuberculosis treatment ISO RGD:1353390 D RGD:9068941 20220609 RGD PMID:8656037|REF_RGD_ID:152995258 8943144 Ada2 adenosine deaminase 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia PMID:25741868|PMID:27884168|PMID:28492532 8943144 Ada2 adenosine deaminase 2 gene DOID:13096 Sneddon syndrome ISO RGD:1353390 D RGD:7240710 20180130 OMIM 8943144 Ada2 adenosine deaminase 2 gene DOID:13096 Sneddon syndrome ISO RGD:1353390 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deficiency of adenosine deaminase 2 | ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement | ClinVar Annotator: match by term: Livedo reticularis and cerebrovascular accidents | ClinVar Annotator: match by term: Sneddon syndrome PMID:12804991|PMID:16199547|PMID:24552284|PMID:24552285|PMID:24737293|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25075847|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26131734|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:27514238|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28830446|PMID:28974505|PMID:28983775|PMID:28993957|PMID:29391253|PMID:29391272|PMID:29600946|PMID:29951947|PMID:29963054|PMID:30647181|PMID:31008556|PMID:31043544|PMID:31291964|PMID:31393689|PMID:31584751|PMID:31617030|PMID:31652311|PMID:31856934|PMID:31945408|PMID:32353633|PMID:32531373|PMID:34004258|PMID:34324127|PMID:37277582 8943144 Ada2 adenosine deaminase 2 gene DOID:13241 Behcet's disease ISO RGD:1353390 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Behcet's syndrome PMID:25741868|PMID:27884168|PMID:28492532|PMID:28814775|PMID:29681619 8943144 Ada2 adenosine deaminase 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353390 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24552284|PMID:24552285|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28814775|PMID:28830446|PMID:28983775|PMID:28993957|PMID:29391253|PMID:29391272|PMID:29951947|PMID:31393689 8943144 Ada2 adenosine deaminase 2 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24552284|PMID:24552285|PMID:24737293|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:27884168|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28814775|PMID:28830446|PMID:28983775|PMID:28993957|PMID:29391253|PMID:29391272|PMID:29951947|PMID:30503522|PMID:30783801|PMID:31008556|PMID:31291964|PMID:31393689|PMID:31584751|PMID:31945408|PMID:32888943 8943144 Ada2 adenosine deaminase 2 gene DOID:2957 pulmonary tuberculosis ISO RGD:1353390 D RGD:9068941 20220610 RGD protein:increased activity:sputum: PMID:19460251|REF_RGD_ID:152995271 8943144 Ada2 adenosine deaminase 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24552284|PMID:24552285|PMID:25075845|PMID:25075846|PMID:25083540|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26131734|PMID:26867732|PMID:26922074|PMID:28492532|PMID:28493328|PMID:28974505|PMID:28993957|PMID:29391253|PMID:31393689|PMID:32353633 8943144 Ada2 adenosine deaminase 2 gene DOID:9002720 Splenomegaly ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:24552284|PMID:24552285|PMID:25741868|PMID:27514238|PMID:28492532 8943144 Ada2 adenosine deaminase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8943144 Ada2 adenosine deaminase 2 gene DOID:9007096 Stroke ISO RGD:1353390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:12804991|PMID:25075847|PMID:25741868|PMID:28492532|PMID:28522451|PMID:30647181|PMID:31393689 8943144 Ada2 adenosine deaminase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1353390 D RGD:7240710 20180130 OMIM 8943144 Ada2 adenosine deaminase 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1353390 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:12804991|PMID:16199547|PMID:17576681|PMID:22929023|PMID:24033266|PMID:24552284|PMID:24552285|PMID:24737293|PMID:25075844|PMID:25075845|PMID:25075846|PMID:25075847|PMID:25083540|PMID:25278816|PMID:25457153|PMID:25741868|PMID:25888558|PMID:26131734|PMID:26607704|PMID:26867732|PMID:26914925|PMID:26922074|PMID:27059682|PMID:27252897|PMID:27514238|PMID:27884168|PMID:27930337|PMID:28492532|PMID:28493328|PMID:28522451|PMID:28665179|PMID:28750028|PMID:28805790|PMID:28814775|PMID:28830446|PMID:28974505|PMID:28983775|PMID:28993957|PMID:29271561|PMID:29391253|PMID:29391272|PMID:29600946|PMID:29681619|PMID:29951947|PMID:29963054|PMID:30503522|PMID:30647181|PMID:30692987|PMID:30783801|PMID:31008556|PMID:31015188|PMID:31031743|PMID:31043544|PMID:31291964|PMID:31393689|PMID:31584751|PMID:31617030|PMID:31652311|PMID:31686313|PMID:31856934|PMID:31945408|PMID:32353633|PMID:32531373|PMID:32638197|PMID:32643137|PMID:32888943|PMID:33529688|PMID:34004258|PMID:34324127|PMID:34577178|PMID:37277582|PMID:9536098 8943144 Ada2 adenosine deaminase 2 gene DOID:9810 polyarteritis nodosa ISO RGD:1353390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa PMID:25741868 8943156 Wnt6 Wnt family member 6 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8943156 Wnt6 Wnt family member 6 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 8943156 Wnt6 Wnt family member 6 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8943156 Wnt6 Wnt family member 6 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8943156 Wnt6 Wnt family member 6 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:10775536|PMID:26937392|PMID:28492532|PMID:9392430 8943156 Wnt6 Wnt family member 6 gene DOID:630 genetic disease ISO RGD:1312067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943156 Wnt6 Wnt family member 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1312068 D RGD:9068941 20200609 RGD Adenomyoepithelioma; mRNA:increased expression:tumor:PLAG-1 transgenic mice PMID:18649356|REF_RGD_ID:2298845 8943156 Wnt6 Wnt family member 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8943156 Wnt6 Wnt family member 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1312068 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:9419423|REF_RGD_ID:2298848 8943156 Wnt6 Wnt family member 6 gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1312068 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|REF_RGD_ID:2298863 8943167 Hsd17b14 hydroxysteroid 17-beta dehydrogenase 14 gene DOID:630 genetic disease ISO RGD:1312097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943167 Hsd17b14 hydroxysteroid 17-beta dehydrogenase 14 gene DOID:9002189 High Myopia ISO RGD:1312097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8943180 Trim32 tripartite motif containing 32 gene DOID:0110133 Bardet-Biedl syndrome 11 ISO RGD:1313150 D RGD:7240710 20180130 OMIM 8943180 Trim32 tripartite motif containing 32 gene DOID:0110133 Bardet-Biedl syndrome 11 ISO RGD:1313150 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:19492423|PMID:21775502|PMID:22025579|PMID:22981120|PMID:23142638|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29921608|PMID:30823891|PMID:31624253|PMID:33296226|PMID:4269389 8943180 Trim32 tripartite motif containing 32 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1313150 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:23541687|PMID:25351777|PMID:25741868|PMID:28492532|PMID:29921608|PMID:32721234|PMID:33485293 8943180 Trim32 tripartite motif containing 32 gene DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ISO RGD:1313150 D RGD:7240710 20180130 OMIM 8943180 Trim32 tripartite motif containing 32 gene DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H ISO RGD:1313150 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sarcotubular myopathy | ClinVar Annotator: match by term: TRIM32-related condition PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:19492423|PMID:21775502|PMID:22025579|PMID:22626039|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:29921608|PMID:30564623|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 8943180 Trim32 tripartite motif containing 32 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1313150 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:24033266|PMID:28492532|PMID:30823891|PMID:35055178 8943180 Trim32 tripartite motif containing 32 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313150 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:16606853|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22025579|PMID:22626039|PMID:22981120|PMID:23142638|PMID:23541687|PMID:24033266|PMID:25351777|PMID:25741868|PMID:26467025|PMID:27491411|PMID:28492532|PMID:28812413|PMID:29921608|PMID:30564623|PMID:30823891|PMID:31624253|PMID:32419263|PMID:32528171|PMID:33296226|PMID:4269389 8943180 Trim32 tripartite motif containing 32 gene DOID:1935 Bardet-Biedl syndrome susceptibility ISO RGD:1313150 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P130S PMID:16606853|REF_RGD_ID:1624129 8943180 Trim32 tripartite motif containing 32 gene DOID:423 myopathy ISO RGD:1313150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10399877|PMID:11822024|PMID:15786463|PMID:15886712|PMID:17994549|PMID:19349376|PMID:21775502|PMID:22981120|PMID:23142638|PMID:25741868|PMID:28492532|PMID:4269389 8943180 Trim32 tripartite motif containing 32 gene DOID:5419 schizophrenia ISO RGD:1313150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8943180 Trim32 tripartite motif containing 32 gene DOID:630 genetic disease ISO RGD:1313150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8943180 Trim32 tripartite motif containing 32 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1313150 D RGD:9068941 20200609 RGD Limb-girdle muscular dystrophy type 2H, OMIM:254110;DNA:missense mutation:exon:p.D487N PMID:11822024|REF_RGD_ID:1624127 8943205 Timm9 translocase of inner mitochondrial membrane 9 gene DOID:0110992 Joubert syndrome 23 ISO RGD:1352655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 8943205 Timm9 translocase of inner mitochondrial membrane 9 gene DOID:630 genetic disease ISO RGD:1352655 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943222 Tmco2 transmembrane and coiled-coil domains 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8943222 Tmco2 transmembrane and coiled-coil domains 2 gene DOID:630 genetic disease ISO RGD:1603584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943228 Dhrs7c dehydrogenase/reductase 7C gene DOID:630 genetic disease ISO RGD:1602060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943247 Lurap1l leucine rich adaptor protein 1 like gene DOID:630 genetic disease ISO RGD:1317610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943247 Lurap1l leucine rich adaptor protein 1 like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8943247 Lurap1l leucine rich adaptor protein 1 like gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1317610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8943252 Tssc4 tumor suppressing subtransferable candidate 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8943252 Tssc4 tumor suppressing subtransferable candidate 4 gene DOID:0080773 delta beta-thalassemia ISO RGD:1316004 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8943252 Tssc4 tumor suppressing subtransferable candidate 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8943252 Tssc4 tumor suppressing subtransferable candidate 4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1316004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8943252 Tssc4 tumor suppressing subtransferable candidate 4 gene DOID:630 genetic disease ISO RGD:1316004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943252 Tssc4 tumor suppressing subtransferable candidate 4 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1316004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8943256 Fasn fatty acid synthase gene DOID:0060041 autism spectrum disorder ISO RGD:1347691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30504930 8943256 Fasn fatty acid synthase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:620665 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8943256 Fasn fatty acid synthase gene DOID:1059 intellectual disability ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8943256 Fasn fatty acid synthase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8943256 Fasn fatty acid synthase gene DOID:12930 dilated cardiomyopathy ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8943256 Fasn fatty acid synthase gene DOID:14566 disease of cellular proliferation ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20373869 8943256 Fasn fatty acid synthase gene DOID:1826 epilepsy ISO RGD:1347691 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8943256 Fasn fatty acid synthase gene DOID:1909 melanoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18770866|PMID:20805790|PMID:21213365 8943256 Fasn fatty acid synthase gene DOID:3382 liposarcoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20372807 8943256 Fasn fatty acid synthase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 8943256 Fasn fatty acid synthase gene DOID:3910 lung adenocarcinoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8943256 Fasn fatty acid synthase gene DOID:6000 congestive heart failure ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8943256 Fasn fatty acid synthase gene DOID:630 genetic disease ISO RGD:1347691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8943256 Fasn fatty acid synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831|PMID:15543204|PMID:21147110 8943256 Fasn fatty acid synthase gene DOID:783 end stage renal disease ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 8943256 Fasn fatty acid synthase gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23305094 8943256 Fasn fatty acid synthase gene DOID:9001793 Generalized Epilepsy ISO RGD:1347691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:21937992|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28714951|PMID:30504930|PMID:9536098 8943256 Fasn fatty acid synthase gene DOID:9001793 Generalized Epilepsy ISO RGD:1347691 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:17576681|PMID:21937992|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28714951|PMID:30504930|PMID:35982159|PMID:9536098 8943256 Fasn fatty acid synthase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21442130 8943256 Fasn fatty acid synthase gene DOID:9006205 Animal Disease Models ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8943256 Fasn fatty acid synthase gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:620665 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8943256 Fasn fatty acid synthase gene DOID:9006646 Metabolic Syndrome ISO RGD:1615200 D RGD:9068941 20230427 RGD mRNA:increased expression:liver (mouse) PMID:29684438|REF_RGD_ID:329333017 8943256 Fasn fatty acid synthase gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:1615200 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 8943256 Fasn fatty acid synthase gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:620665 D RGD:9068941 20230914 RGD PMID:27821167|REF_RGD_ID:401799622 8943256 Fasn fatty acid synthase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8943256 Fasn fatty acid synthase gene DOID:9007692 Insulin Resistance treatment ISO RGD:620665 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8943256 Fasn fatty acid synthase gene DOID:9008939 Breast Neoplasms ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17089011|PMID:18281512 8943256 Fasn fatty acid synthase gene DOID:9009121 lung metastasis ISO RGD:1347691 D RGD:9068941 20210423 RGD associated with head and neck squamous cell carcinoma PMID:20604875|REF_RGD_ID:126790467 8943256 Fasn fatty acid synthase gene DOID:9256 colorectal cancer ISO RGD:1347691 D RGD:9068941 20220908 RGD mRNA,protein:increased expression:colorectum: PMID:32525817|REF_RGD_ID:153350127 8943256 Fasn fatty acid synthase gene DOID:9970 obesity ISO RGD:1347691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8943306 Ciao1 cytosolic iron-sulfur assembly component 1 gene DOID:1059 intellectual disability ISO RGD:1354495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8943306 Ciao1 cytosolic iron-sulfur assembly component 1 gene DOID:5419 schizophrenia ISO RGD:1354495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8943306 Ciao1 cytosolic iron-sulfur assembly component 1 gene DOID:630 genetic disease ISO RGD:1354495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943317 Pak6 p21 (RAC1) activated kinase 6 gene DOID:0080141 mosaic variegated aneuploidy syndrome 1 ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 PMID:28492532 8943317 Pak6 p21 (RAC1) activated kinase 6 gene DOID:10126 keratoconus ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 8943317 Pak6 p21 (RAC1) activated kinase 6 gene DOID:2717 Bloom syndrome ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8943317 Pak6 p21 (RAC1) activated kinase 6 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1314703 D RGD:9068941 20200609 RGD PMID:24715215|REF_RGD_ID:13506722 8943317 Pak6 p21 (RAC1) activated kinase 6 gene DOID:630 genetic disease ISO RGD:1314703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943317 Pak6 p21 (RAC1) activated kinase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314703 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18642328 8943317 Pak6 p21 (RAC1) activated kinase 6 gene DOID:9256 colorectal cancer ISO RGD:1314703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8943343 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:0060071 pre-malignant neoplasm ISO RGD:732225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8943343 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:732225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8943343 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:1059 intellectual disability ISO RGD:732225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8943343 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8943343 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:2746 glycogen storage disease V ISO RGD:732225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8943343 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:630 genetic disease ISO RGD:732225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943343 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732225 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8943343 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:9007188 Liver Neoplasms ISO RGD:732225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8943343 Yif1a Yip1 interacting factor homolog A, membrane trafficking protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8943358 Fbxo41 F-box protein 41 gene DOID:0050473 Alstrom syndrome ISO RGD:1351223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 8943358 Fbxo41 F-box protein 41 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1351223 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8943358 Fbxo41 F-box protein 41 gene DOID:543 dystonia ISO RGD:1351223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8943358 Fbxo41 F-box protein 41 gene DOID:630 genetic disease ISO RGD:1351223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943358 Fbxo41 F-box protein 41 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1351223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8943387 Znf446 zinc finger protein 446 gene DOID:630 genetic disease ISO RGD:1351503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943387 Znf446 zinc finger protein 446 gene DOID:9002189 High Myopia ISO RGD:1351503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8943387 Znf446 zinc finger protein 446 gene DOID:9007661 Dwarfism ISO RGD:1351503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8943424 Cldn15 claudin 15 gene DOID:1790 malignant mesothelioma ISO RGD:1321720 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 8943424 Cldn15 claudin 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8943424 Cldn15 claudin 15 gene DOID:630 genetic disease ISO RGD:1321720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943443 Cyth3 cytohesin 3 gene DOID:630 genetic disease ISO RGD:1348510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943463 Renbp renin binding protein gene DOID:0050454 periventricular nodular heterotopia ISO RGD:732186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8943463 Renbp renin binding protein gene DOID:0050476 Barth syndrome ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8943463 Renbp renin binding protein gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 8943463 Renbp renin binding protein gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 8943463 Renbp renin binding protein gene DOID:0080600 COVID-19 ISO RGD:732186 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8943463 Renbp renin binding protein gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 8943463 Renbp renin binding protein gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 8943463 Renbp renin binding protein gene DOID:0111788 Melnick-Needles syndrome ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 8943463 Renbp renin binding protein gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 8943463 Renbp renin binding protein gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:732186 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 8943463 Renbp renin binding protein gene DOID:0112003 immunodeficiency 33 ISO RGD:732186 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8943463 Renbp renin binding protein gene DOID:10588 adrenoleukodystrophy ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8943463 Renbp renin binding protein gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8943463 Renbp renin binding protein gene DOID:12849 autistic disorder ISO RGD:732186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8943463 Renbp renin binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:732186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12612874 8943463 Renbp renin binding protein gene DOID:13628 favism ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8943463 Renbp renin binding protein gene DOID:2729 dyskeratosis congenita ISO RGD:732186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8943463 Renbp renin binding protein gene DOID:607 paraplegia ISO RGD:732186 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8943463 Renbp renin binding protein gene DOID:630 genetic disease ISO RGD:732186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943463 Renbp renin binding protein gene DOID:9002720 Splenomegaly ISO RGD:732186 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8943463 Renbp renin binding protein gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 8943463 Renbp renin binding protein gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:732186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 8943486 Dnal1 dynein axonemal light chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1320134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:21496787 8943486 Dnal1 dynein axonemal light chain 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1320134 D RGD:7240710 20180130 OMIM 8943486 Dnal1 dynein axonemal light chain 1 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1320134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:17576681|PMID:21496787|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 8943486 Dnal1 dynein axonemal light chain 1 gene DOID:1059 intellectual disability ISO RGD:1320134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8943486 Dnal1 dynein axonemal light chain 1 gene DOID:630 genetic disease ISO RGD:1320134 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8943486 Dnal1 dynein axonemal light chain 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320134 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:21496787|PMID:24033266|PMID:25741868|PMID:28492532 8943509 Jtb jumping translocation breakpoint gene DOID:0070048 GAND syndrome ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 8943509 Jtb jumping translocation breakpoint gene DOID:0111940 immunodeficiency 42 ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8943509 Jtb jumping translocation breakpoint gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8943509 Jtb jumping translocation breakpoint gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8943509 Jtb jumping translocation breakpoint gene DOID:1540 parathyroid carcinoma ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8943509 Jtb jumping translocation breakpoint gene DOID:5812 MHC class II deficiency ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8943509 Jtb jumping translocation breakpoint gene DOID:630 genetic disease ISO RGD:736325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943509 Jtb jumping translocation breakpoint gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8943519 CUNH10orf53 chromosome unknown C10orf53 homolog gene DOID:11372 megacolon ISO RGD:1345709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8943519 CUNH10orf53 chromosome unknown C10orf53 homolog gene DOID:5419 schizophrenia ISO RGD:1345709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8943519 CUNH10orf53 chromosome unknown C10orf53 homolog gene DOID:630 genetic disease ISO RGD:1345709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943527 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:0070378 developmental and epileptic encephalopathy 109 ISO RGD:1318646 D RGD:7240710 20221214 OMIM 8943527 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:0070378 developmental and epileptic encephalopathy 109 ISO RGD:1318646 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 109 PMID:25741868 8943527 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:12849 autistic disorder ISO RGD:1318646 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8943527 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:630 genetic disease ISO RGD:1318646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943527 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8943527 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:9005779 Polyploidy ISO RGD:1318646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25123929 8943527 Fzr1 fizzy and cell division cycle 20 related 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318646 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:10763 hypertension ISO RGD:2846 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:11882579|REF_RGD_ID:1626447 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731005 D RGD:9068941 20200609 RGD PMID:12556913|REF_RGD_ID:1358660 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:12849 autistic disorder ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19038234 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:12995 conduct disorder ISO RGD:731005 D RGD:9068941 20200609 RGD associated with Alcoholism PMID:14714219|REF_RGD_ID:1358661 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:2030 anxiety disorder ISO RGD:2846 D RGD:9068941 20200609 RGD PMID:12040062|REF_RGD_ID:625756 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:2468 psychotic disorder ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:326 ischemia ISO RGD:2846 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:12393100|REF_RGD_ID:1626445 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:630 genetic disease ISO RGD:731005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:6432 pulmonary hypertension ameliorates ISO RGD:10746 D RGD:9068941 20230720 RGD PMID:28473438|REF_RGD_ID:329955562 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:670 amphetamine abuse ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10780831 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2846 D RGD:9068941 20200609 RGD PMID:17542534|REF_RGD_ID:1626451 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9000641 Pain ISO RGD:2846 D RGD:9068941 20200609 RGD PMID:16165284|REF_RGD_ID:1626470 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9001109 Anorexia ISO RGD:2846 D RGD:9068941 20200609 RGD associated with Sarcoma;protein:increased expression:hypothalamus PMID:15698923|REF_RGD_ID:1626473 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731005 D RGD:9068941 20230720 RGD protein:increased expression:endothelium, smooth muscle, pulmonary artery PMID:28473438|REF_RGD_ID:329955562 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17509084|PMID:9603521 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9006024 Hypotension ISO RGD:731005 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9109356 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:10746 D RGD:9068941 20200609 RGD PMID:11739290|REF_RGD_ID:1626449 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9008675 Dyskinesias ISO RGD:2846 D RGD:9068941 20200609 RGD PMID:17452372|REF_RGD_ID:1626453 8943561 Htr1b 5-hydroxytryptamine receptor 1B gene DOID:9970 obesity ISO RGD:2846 D RGD:9068941 20200609 RGD protein:increase expression:arcuate nucleus PMID:10564740|REF_RGD_ID:1626450 8943569 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1606344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8943569 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:0050575 D-2-hydroxyglutaric aciduria ISO RGD:1606344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria PMID:18414213|PMID:25741868|PMID:28492532 8943569 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1606344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8943569 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606344 D RGD:7240710 20190918 OMIM 8943569 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:15609246|PMID:16037974|PMID:16081310|PMID:16199547|PMID:16442322|PMID:17576681|PMID:18414213|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:22391998|PMID:24715439|PMID:25741868|PMID:26178471|PMID:28135719|PMID:28492532|PMID:30848064|PMID:30908763|PMID:31488895|PMID:33431826|PMID:7609436|PMID:9536098 8943569 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606344 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8943569 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:1059 intellectual disability ISO RGD:1606344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8943569 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:1826 epilepsy ISO RGD:1606344 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8943569 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:630 genetic disease ISO RGD:1606344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26178471|PMID:28492532|PMID:33431826 8943569 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1606344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8943569 D2hgdh D-2-hydroxyglutarate dehydrogenase gene DOID:9252 amino acid metabolic disorder ISO RGD:1606344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15609246 8943590 Pias2 protein inhibitor of activated STAT 2 gene DOID:0060356 Vici syndrome ISO RGD:1603704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8943590 Pias2 protein inhibitor of activated STAT 2 gene DOID:1059 intellectual disability ISO RGD:1603704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8943590 Pias2 protein inhibitor of activated STAT 2 gene DOID:630 genetic disease ISO RGD:1603704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943590 Pias2 protein inhibitor of activated STAT 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1603704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8943620 Eno2 enolase 2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:733932 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8943620 Eno2 enolase 2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8943620 Eno2 enolase 2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8943620 Eno2 enolase 2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8943620 Eno2 enolase 2 gene DOID:0080855 Parkinsonism ISO RGD:2554 D RGD:9068941 20200609 RGD PMID:17532790|REF_RGD_ID:2293747 8943620 Eno2 enolase 2 gene DOID:0111621 Temtamy syndrome ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8943620 Eno2 enolase 2 gene DOID:10283 prostate cancer ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:15239127|REF_RGD_ID:2293734 8943620 Eno2 enolase 2 gene DOID:10763 hypertension severity ISO RGD:733932 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21130083|REF_RGD_ID:5508770 8943620 Eno2 enolase 2 gene DOID:11054 urinary bladder cancer ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613180 8943620 Eno2 enolase 2 gene DOID:11054 urinary bladder cancer ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:17951193|REF_RGD_ID:2293738 8943620 Eno2 enolase 2 gene DOID:11832 visual epilepsy ISO RGD:2554 D RGD:9068941 20200609 RGD protein:altered expression:cerebrospinal fluid PMID:15464860|REF_RGD_ID:5509052 8943620 Eno2 enolase 2 gene DOID:12217 Lewy body dementia ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 8943620 Eno2 enolase 2 gene DOID:12783 migraine without aura ISO RGD:733932 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21293918|REF_RGD_ID:5508769 8943620 Eno2 enolase 2 gene DOID:14115 toxic shock syndrome ISO RGD:2554 D RGD:9068941 20200609 RGD proteiin:increased expression:serum PMID:17083782|REF_RGD_ID:2293748 8943620 Eno2 enolase 2 gene DOID:14330 Parkinson's disease ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 8943620 Eno2 enolase 2 gene DOID:1800 neuroendocrine carcinoma ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:15010880|REF_RGD_ID:2293735 8943620 Eno2 enolase 2 gene DOID:3459 breast carcinoma ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:16608642|REF_RGD_ID:2293740 8943620 Eno2 enolase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21595568 8943620 Eno2 enolase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8943620 Eno2 enolase 2 gene DOID:630 genetic disease ISO RGD:733932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943620 Eno2 enolase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2554 D RGD:9068941 20200609 RGD protein:increased expression:serum, cerebrospinal fluid PMID:18343116|REF_RGD_ID:2293743 8943620 Eno2 enolase 2 gene DOID:9000367 Multiple Trauma ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:16044081|REF_RGD_ID:2293751 8943620 Eno2 enolase 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2910524 8943620 Eno2 enolase 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613180 8943620 Eno2 enolase 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:18459456|REF_RGD_ID:2293736 8943620 Eno2 enolase 2 gene DOID:9002573 Nerve Tissue Neoplasms ISO RGD:2554 D RGD:9068941 20200609 RGD PMID:17537454|REF_RGD_ID:2293746 8943620 Eno2 enolase 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2554 D RGD:9068941 20200609 RGD PMID:17683050|REF_RGD_ID:2293745 8943620 Eno2 enolase 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:18156975|REF_RGD_ID:2293737 8943620 Eno2 enolase 2 gene DOID:9004462 Atrophy severity ISO RGD:733932 D RGD:9068941 20200609 RGD associated with Alzheimer Disease PMID:20105309|REF_RGD_ID:5508787 8943620 Eno2 enolase 2 gene DOID:9004643 Urologic Neoplasms ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:12656306|REF_RGD_ID:2293741 8943620 Eno2 enolase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2554 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15780189|REF_RGD_ID:2293753 8943620 Eno2 enolase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613180 8943620 Eno2 enolase 2 gene DOID:9007787 Carcinoid Tumor ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:17345775|REF_RGD_ID:2293739 8943620 Eno2 enolase 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:733932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8943620 Eno2 enolase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:733932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8943620 Eno2 enolase 2 gene DOID:936 brain disease disease_progression ISO RGD:733932 D RGD:9068941 20200609 RGD PMID:20847541|REF_RGD_ID:5508782 8943640 Asb7 ankyrin repeat and SOCS box containing 7 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1313017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8943640 Asb7 ankyrin repeat and SOCS box containing 7 gene DOID:630 genetic disease ISO RGD:1313017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943640 Asb7 ankyrin repeat and SOCS box containing 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8943657 Ddi2 DNA damage inducible 1 homolog 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603951 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8943657 Ddi2 DNA damage inducible 1 homolog 2 gene DOID:630 genetic disease ISO RGD:1603951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943657 Ddi2 DNA damage inducible 1 homolog 2 gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1603951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23721890|PMID:28492532 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26619011 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:0060464 Feingold syndrome ISO RGD:1344499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: MMT syndrome | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome PMID:15821734|PMID:16906565|PMID:18470948|PMID:18671284|PMID:20301770|PMID:21224895|PMID:25741868|PMID:28492532|PMID:30573562|PMID:30655312 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:1059 intellectual disability ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:13938 amenorrhea ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:1657 ventricular septal defect ISO RGD:1344499 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:2154 nephroblastoma ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:2513 basal cell carcinoma ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:3068 glioblastoma ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:363 uterine cancer ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:26619011 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:5419 schizophrenia ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:5723 optic atrophy ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1344499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15821734|PMID:16906565|PMID:18470948|PMID:18671284|PMID:21224895|PMID:28492532 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:6406 double outlet right ventricle ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:25741868 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:769 neuroblastoma ISO RGD:1344499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26619011 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9000674 Agenesis of Gallbladder ISO RGD:1344499 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gallbladder, agenesis of PMID:25741868 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9002170 Experimental Neoplasms ISO RGD:1344499 D RGD:9068941 20231207 CTD CTD Direct Evidence: marker/mechanism PMID:37246217 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9002221 Hyperplasia ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9004814 Chromosome Aberrations ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9004844 Feingold Syndrome 1 ISO RGD:1344499 D RGD:7240710 20180704 OMIM 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9004844 Feingold Syndrome 1 ISO RGD:1344499 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: MYCN-related condition PMID:25741868|PMID:30573562 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9005749 Necrosis ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21214410 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1344499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22286764 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9008200 Megalencephaly-Polydactyly Syndrome ISO RGD:1344499 D RGD:7240710 20240320 OMIM 8943682 Mycn MYCN proto-oncogene, bHLH transcription factor gene DOID:9008200 Megalencephaly-Polydactyly Syndrome ISO RGD:1344499 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome PMID:25741868|PMID:30573562 8943699 Rhoq ras homolog family member Q gene DOID:3883 Lynch syndrome ISO RGD:1345983 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8943699 Rhoq ras homolog family member Q gene DOID:630 genetic disease ISO RGD:1345983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943699 Rhoq ras homolog family member Q gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8943714 Strn3 striatin 3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:737101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 8943714 Strn3 striatin 3 gene DOID:630 genetic disease ISO RGD:737101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943714 Strn3 striatin 3 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737101 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8943755 Tmem201 transmembrane protein 201 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8943755 Tmem201 transmembrane protein 201 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604210 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8943755 Tmem201 transmembrane protein 201 gene DOID:630 genetic disease ISO RGD:1604210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943755 Tmem201 transmembrane protein 201 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8943772 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8943772 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:0080242 syndromic X-linked mental retardation Hough type ISO RGD:1350323 D RGD:7240710 20190315 OMIM 8943772 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:0080242 syndromic X-linked mental retardation Hough type ISO RGD:1350323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HOUGE TYPE PMID:25223753|PMID:25644381|PMID:25741868|PMID:28098945|PMID:28492532 8943772 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:1059 intellectual disability ISO RGD:1350323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8943772 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:12849 autistic disorder ISO RGD:1350323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8943772 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:630 genetic disease ISO RGD:1350323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8943772 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8943772 Cnksr2 connector enhancer of kinase suppressor of Ras 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 8943797 Ccnc cyclin C gene DOID:630 genetic disease ISO RGD:736281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943797 Ccnc cyclin C gene DOID:9007730 Burns ISO RGD:70905 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16271231|REF_RGD_ID:2315993 8943823 Helb DNA helicase B gene DOID:630 genetic disease ISO RGD:1344471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943853 Nabp2 nucleic acid binding protein 2 gene DOID:630 genetic disease ISO RGD:1601970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943864 Wdr82 WD repeat domain 82 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1604285 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8943864 Wdr82 WD repeat domain 82 gene DOID:630 genetic disease ISO RGD:1604285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943885 Frzb frizzled related protein gene DOID:3907 lung squamous cell carcinoma ISO RGD:1322704 D RGD:9068941 20200702 RGD protein:decreased expression:lung (human) PMID:27623992|REF_RGD_ID:32716395 8943885 Frzb frizzled related protein gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322704 D RGD:9068941 20200702 RGD DNA:hypermethylation:exon 1 PMID:27623992|REF_RGD_ID:32716395 8943885 Frzb frizzled related protein gene DOID:3910 lung adenocarcinoma severity ISO RGD:1322704 D RGD:9068941 20200702 RGD mRNA:decreased expression:lung (human) PMID:27623992|REF_RGD_ID:32716395 8943885 Frzb frizzled related protein gene DOID:630 genetic disease ISO RGD:1322704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943885 Frzb frizzled related protein gene DOID:8398 osteoarthritis ISO RGD:1322704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis PMID:15210948|PMID:25741868 8943885 Frzb frizzled related protein gene DOID:8398 osteoarthritis susceptibility ISO RGD:1322704 D RGD:7240710 20190502 OMIM 8943885 Frzb frizzled related protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:1322704 D RGD:9068941 20200702 RGD protein, decreased expression:skeletal muscle, serum (human) PMID:28240822|REF_RGD_ID:32716394 8943907 Gpr142 G protein-coupled receptor 142 gene DOID:630 genetic disease ISO RGD:1352818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943913 Csgalnact2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1604805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943932 Brpf3 bromodomain and PHD finger containing 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1315730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8943932 Brpf3 bromodomain and PHD finger containing 3 gene DOID:12849 autistic disorder ISO RGD:1315730 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8943932 Brpf3 bromodomain and PHD finger containing 3 gene DOID:630 genetic disease ISO RGD:1315730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943982 Qpct glutaminyl-peptide cyclotransferase gene DOID:0080690 RASopathy ISO RGD:735639 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8943982 Qpct glutaminyl-peptide cyclotransferase gene DOID:1909 melanoma ISO RGD:735639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 8943982 Qpct glutaminyl-peptide cyclotransferase gene DOID:3042 allergic contact dermatitis ISO RGD:735639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8943982 Qpct glutaminyl-peptide cyclotransferase gene DOID:630 genetic disease ISO RGD:735639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943982 Qpct glutaminyl-peptide cyclotransferase gene DOID:813 septic arthritis ISO RGD:735640 D RGD:9068941 20210212 RGD PMID:23204180|REF_RGD_ID:41410433 8943982 Qpct glutaminyl-peptide cyclotransferase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 8943993 Pcyox1 prenylcysteine oxidase 1 gene DOID:630 genetic disease ISO RGD:1350972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8943993 Pcyox1 prenylcysteine oxidase 1 gene DOID:9004657 Weight Gain ISO RGD:1350972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8944008 Kdelr1 KDEL endoplasmic reticulum protein retention receptor 1 gene DOID:630 genetic disease ISO RGD:1315569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944008 Kdelr1 KDEL endoplasmic reticulum protein retention receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8944030 Cd19 CD19 molecule gene DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb ISO RGD:1319228 D RGD:8554872 20231226 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 8944030 Cd19 CD19 molecule gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 8944030 Cd19 CD19 molecule gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1319228 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:28492532 8944030 Cd19 CD19 molecule gene DOID:0081146 common variable immunodeficiency 3 ISO RGD:1319228 D RGD:7240710 20190710 OMIM 8944030 Cd19 CD19 molecule gene DOID:0081146 common variable immunodeficiency 3 ISO RGD:1319228 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 3 PMID:16672701|PMID:17882224|PMID:21159371|PMID:21330302|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34490048 8944030 Cd19 CD19 molecule gene DOID:12177 common variable immunodeficiency ISO RGD:1319228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16672701 8944030 Cd19 CD19 molecule gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8944030 Cd19 CD19 molecule gene DOID:2583 agammaglobulinemia ISO RGD:1319228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16672701 8944030 Cd19 CD19 molecule gene DOID:5419 schizophrenia ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8944030 Cd19 CD19 molecule gene DOID:612 primary immunodeficiency disease ISO RGD:1319228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8944030 Cd19 CD19 molecule gene DOID:630 genetic disease ISO RGD:1319228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8944041 Prom1 prominin 1 gene DOID:0050439 Usher syndrome ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome 8944041 Prom1 prominin 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1345263 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10205271|PMID:16199547|PMID:17605048|PMID:19718270|PMID:20042663|PMID:23591405|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24474277|PMID:24516651|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:26702251|PMID:27874104|PMID:28041643|PMID:28418496|PMID:28492532|PMID:30588538|PMID:31129250|PMID:31199449|PMID:32531858|PMID:35951719|PMID:36909829 8944041 Prom1 prominin 1 gene DOID:0050817 Stargardt disease ISO RGD:1345263 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17576681|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:24154662|PMID:24516651|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30578500|PMID:30588538|PMID:30718709|PMID:31129250|PMID:34906470|PMID:35947379|PMID:9536098|PMID:9634506 8944041 Prom1 prominin 1 gene DOID:0050817 Stargardt disease ISO RGD:1345263 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17576681|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:24154662|PMID:24516651|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30578500|PMID:30588538|PMID:30718709|PMID:31129250|PMID:34906470|PMID:35947379|PMID:36909829|PMID:9536098|PMID:9634506 8944041 Prom1 prominin 1 gene DOID:0070438 retinal macular dystrophy ISO RGD:1345263 D RGD:8554872 20230704 ClinVar ClinVar Annotator: match by term: Macular dystrophy, retinal PMID:23757202|PMID:25741868|PMID:28492532 8944041 Prom1 prominin 1 gene DOID:0070517 retinal macular dystrophy 2 ISO RGD:1345263 D RGD:7240710 20180130 OMIM 8944041 Prom1 prominin 1 gene DOID:0070517 retinal macular dystrophy 2 ISO RGD:1345263 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinal macular dystrophy type 2 PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:24154662|PMID:24265693|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:26161267|PMID:26355662|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30215852|PMID:30718709|PMID:32820593|PMID:34906470|PMID:35947379|PMID:36909829|PMID:9634506 8944041 Prom1 prominin 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:17605048|PMID:19718270|PMID:24154662|PMID:24938718|PMID:25474345|PMID:25741868|PMID:28492532|PMID:31054281 8944041 Prom1 prominin 1 gene DOID:0110376 retinitis pigmentosa 41 ISO RGD:1345263 D RGD:7240710 20180130 OMIM 8944041 Prom1 prominin 1 gene DOID:0110376 retinitis pigmentosa 41 ISO RGD:1345263 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 41 PMID:10205271|PMID:10587575|PMID:16199547|PMID:17576681|PMID:17605048|PMID:19718270|PMID:20042663|PMID:24154662|PMID:24516651|PMID:24938718|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28418496|PMID:28492532|PMID:29343940|PMID:29555955|PMID:30578500|PMID:30588538|PMID:31054281|PMID:31129250|PMID:31199449|PMID:32531858|PMID:36909829|PMID:9536098 8944041 Prom1 prominin 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1345263 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8944041 Prom1 prominin 1 gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 PMID:10205271|PMID:17605048|PMID:19718270|PMID:24154662|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26153215|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:30588538 8944041 Prom1 prominin 1 gene DOID:0111019 cone-rod dystrophy 12 ISO RGD:1345263 D RGD:7240710 20180130 OMIM 8944041 Prom1 prominin 1 gene DOID:0111019 cone-rod dystrophy 12 ISO RGD:1345263 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 12 PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20554613|PMID:20859302|PMID:22025579|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23591405|PMID:24154662|PMID:24265693|PMID:24474277|PMID:24763286|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26702251|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28418496|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:31199449|PMID:32531858|PMID:32581362|PMID:32820593|PMID:33546218|PMID:34906470|PMID:35947379|PMID:36909829|PMID:9634506 8944041 Prom1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30718709 8944041 Prom1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30588538|PMID:30718709 8944041 Prom1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:32581362 8944041 Prom1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:32581362|PMID:32820593|PMID:34906470|PMID:35947379|PMID:9634506 8944041 Prom1 prominin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1345263 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:32581362|PMID:32820593|PMID:34906470|PMID:35947379|PMID:36909829|PMID:9634506 8944041 Prom1 prominin 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1345263 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:16199547|PMID:17605048|PMID:19718270|PMID:24154662|PMID:24516651|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30578500|PMID:30588538|PMID:31129250|PMID:36909829 8944041 Prom1 prominin 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1345263 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32673656 8944041 Prom1 prominin 1 gene DOID:3068 glioblastoma ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679414|PMID:18829568|PMID:19718438 8944041 Prom1 prominin 1 gene DOID:4448 macular degeneration ISO RGD:1345263 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:18654668|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:25356976|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30718709|PMID:34906470|PMID:35947379|PMID:36909829|PMID:9634506 8944041 Prom1 prominin 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21919130 8944041 Prom1 prominin 1 gene DOID:630 genetic disease ISO RGD:1345263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8944041 Prom1 prominin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1331934 D RGD:9068941 20210423 RGD mRNA:increased expression:liver (mouse) PMID:26569409|REF_RGD_ID:11344640 8944041 Prom1 prominin 1 gene DOID:8501 fundus dystrophy ISO RGD:1345263 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20554613|PMID:20859302|PMID:22025579|PMID:22183351|PMID:22581970|PMID:23105016|PMID:24154662|PMID:24265693|PMID:24547909|PMID:24763286|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26153215|PMID:26261540|PMID:26702251|PMID:26872967|PMID:27208204|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847639|PMID:30029497|PMID:30576320|PMID:30578500|PMID:30588538|PMID:30718709|PMID:31129250|PMID:32483926|PMID:32531858|PMID:32581362|PMID:33546218|PMID:34906470|PMID:35947379|PMID:36819107|PMID:36909829|PMID:9634506 8944041 Prom1 prominin 1 gene DOID:9000565 Stargardt Disease 4 ISO RGD:1345263 D RGD:7240710 20180130 OMIM 8944041 Prom1 prominin 1 gene DOID:9000565 Stargardt Disease 4 ISO RGD:1345263 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stargardt Disease, Dominant | ClinVar Annotator: match by term: Stargardt disease 4 PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20554613|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23591405|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24474277|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:26161267|PMID:26355662|PMID:27208204|PMID:28041643|PMID:28095140|PMID:28418496|PMID:28492532|PMID:28559085|PMID:29416601|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30718709|PMID:31576780|PMID:32483926|PMID:32531858|PMID:32820593|PMID:33546218|PMID:34906470|PMID:35947379|PMID:36819107|PMID:36909829|PMID:9634506 8944041 Prom1 prominin 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 8944041 Prom1 prominin 1 gene DOID:9004268 Uterine Neoplasms ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21919130 8944041 Prom1 prominin 1 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1345263 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:10205271|PMID:16199547|PMID:17605048|PMID:19718270|PMID:24154662|PMID:24516651|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:30588538|PMID:31129250|PMID:36909829 8944041 Prom1 prominin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 8944041 Prom1 prominin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18829568 8944041 Prom1 prominin 1 gene DOID:9351 diabetes mellitus ISO RGD:69367 D RGD:9068941 20200609 RGD PMID:11237753|REF_RGD_ID:68837 8944078 Pfdn4 prefoldin subunit 4 gene DOID:630 genetic disease ISO RGD:1347549 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944093 Ush1g USH1 protein network component sans gene DOID:0050439 Usher syndrome ISO RGD:1312053 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24033266|PMID:25741868|PMID:28492532 8944093 Ush1g USH1 protein network component sans gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:25741868|PMID:30303587 8944093 Ush1g USH1 protein network component sans gene DOID:0110826 Usher syndrome type 1 ISO RGD:1312053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11941484|PMID:12588794|PMID:21569298|PMID:25741868|PMID:28492532 8944093 Ush1g USH1 protein network component sans gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 8944093 Ush1g USH1 protein network component sans gene DOID:0110834 Usher syndrome type 1G ISO RGD:1312053 D RGD:7240710 20180130 OMIM 8944093 Ush1g USH1 protein network component sans gene DOID:0110834 Usher syndrome type 1G ISO RGD:1312053 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: USH1G-related condition | ClinVar Annotator: match by term: Usher syndrome type 1G PMID:11941484|PMID:12588794|PMID:15660226|PMID:16283141|PMID:17576681|PMID:17896313|PMID:20142502|PMID:21044053|PMID:22135276|PMID:22219650|PMID:23591405|PMID:24033266|PMID:25255398|PMID:25741868|PMID:26467025|PMID:26878454|PMID:27068579|PMID:27353947|PMID:28224992|PMID:28492532|PMID:28944237|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30828346|PMID:31637240|PMID:33095980|PMID:33946315|PMID:35802133|PMID:36633841|PMID:9536098 8944093 Ush1g USH1 protein network component sans gene DOID:630 genetic disease ISO RGD:1312053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 8944093 Ush1g USH1 protein network component sans gene DOID:9004538 Hearing Loss ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25255398|PMID:25741868|PMID:27068579|PMID:27353947|PMID:28492532|PMID:30245029|PMID:30311386|PMID:30828346|PMID:30872814|PMID:31637240 8944093 Ush1g USH1 protein network component sans gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1312053 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment PMID:30029624 8944093 Ush1g USH1 protein network component sans gene DOID:9008681 Deafness ISO RGD:1312053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:25741868|PMID:30303587 8944101 Myh9 myosin heavy chain 9 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 8944101 Myh9 myosin heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs7078 (human) PMID:19320731|REF_RGD_ID:12798512 8944101 Myh9 myosin heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18716610|REF_RGD_ID:12798509 8944101 Myh9 myosin heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human) PMID:19891592|REF_RGD_ID:12798511 8944101 Myh9 myosin heavy chain 9 gene DOID:0050567 orofacial cleft ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3752462, rs2009930 (human) PMID:17337617|REF_RGD_ID:12798514 8944101 Myh9 myosin heavy chain 9 gene DOID:0050758 metabolic acidosis ISO RGD:3140 D RGD:9068941 20200609 RGD protein:increased expression:brush border membrane PMID:22357915|REF_RGD_ID:7243154 8944101 Myh9 myosin heavy chain 9 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8944101 Myh9 myosin heavy chain 9 gene DOID:0050938 breast lobular carcinoma ISO RGD:732401 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 8944101 Myh9 myosin heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:7240710 20180130 OMIM 8944101 Myh9 myosin heavy chain 9 gene DOID:0060651 MYH-9 related disease ISO RGD:732401 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome PMID:10603121|PMID:10739770|PMID:10973259|PMID:10973260|PMID:11023810|PMID:11093280|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:11935325|PMID:12237319|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:15613099|PMID:15667538|PMID:16098078|PMID:16162639|PMID:16818291|PMID:16969870|PMID:16978745|PMID:17146397|PMID:17576681|PMID:17655694|PMID:18059020|PMID:18330899|PMID:18676005|PMID:19450438|PMID:19557653|PMID:19572073|PMID:19967157|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:21542825|PMID:21833445|PMID:21908426|PMID:22123909|PMID:22477015|PMID:22627578|PMID:22995991|PMID:23123319|PMID:23144074|PMID:23207509|PMID:23349334|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24123792|PMID:24130771|PMID:24186861|PMID:24643058|PMID:24875298|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:25752595|PMID:25949529|PMID:26056797|PMID:26226608|PMID:26346198|PMID:26387855|PMID:26467025|PMID:26969326|PMID:27068579|PMID:27610647|PMID:28059092|PMID:28492532|PMID:28780565|PMID:28983057|PMID:29068549|PMID:29090586|PMID:29532554|PMID:29679756|PMID:29782633|PMID:29907799|PMID:30245029|PMID:30311386|PMID:30471777|PMID:30720677|PMID:30916803|PMID:31064749|PMID:31308072|PMID:31555371|PMID:31562665|PMID:31937884|PMID:31977897|PMID:32100410|PMID:32545517|PMID:32604935|PMID:32746448|PMID:32757236|PMID:33004838|PMID:33532864|PMID:33710140|PMID:34355501|PMID:34619682|PMID:36100708|PMID:5011389|PMID:8280620|PMID:9390828|PMID:9536098 8944101 Myh9 myosin heavy chain 9 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:732401 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8944101 Myh9 myosin heavy chain 9 gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:4270G>C,D1424H (human) PMID:12500226|REF_RGD_ID:6902925 8944101 Myh9 myosin heavy chain 9 gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:732401 D RGD:7240710 20180130 OMIM 8944101 Myh9 myosin heavy chain 9 gene DOID:0110548 autosomal dominant nonsyndromic deafness 17 ISO RGD:732401 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration | ClinVar Annotator: match by term: MYH9-related condition PMID:10603121|PMID:10973259|PMID:10973260|PMID:11023810|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:11935325|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:16098078|PMID:16162639|PMID:16818291|PMID:16969870|PMID:17146397|PMID:17655694|PMID:18059020|PMID:18330899|PMID:18676005|PMID:19557653|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:21542825|PMID:21908426|PMID:22123909|PMID:22477015|PMID:22627578|PMID:22995991|PMID:23144074|PMID:23207509|PMID:23349334|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24130771|PMID:24186861|PMID:24643058|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:25752595|PMID:25949529|PMID:26056797|PMID:26226608|PMID:26346198|PMID:26387855|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28059092|PMID:28492532|PMID:28780565|PMID:29090586|PMID:29532554|PMID:29782633|PMID:29907799|PMID:30245029|PMID:30311386|PMID:30471777|PMID:30720677|PMID:30916803|PMID:31064749|PMID:32100410|PMID:32545517|PMID:32604935|PMID:32757236|PMID:33532864|PMID:33710140|PMID:34355501|PMID:34619682|PMID:36100708|PMID:5011389|PMID:8280620|PMID:9390828 8944101 Myh9 myosin heavy chain 9 gene DOID:0110754 type 1 diabetes mellitus 17 ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 17 PMID:25741868 8944101 Myh9 myosin heavy chain 9 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:732401 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:19557653|PMID:23144074|PMID:24033266|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532 8944101 Myh9 myosin heavy chain 9 gene DOID:10003 sensorineural hearing loss disease_progression ISO RGD:732401 D RGD:9068941 20200609 RGD associated with MYH9-Related Disorders;DNA:mutations:cds: PMID:26226608|REF_RGD_ID:11533922 8944101 Myh9 myosin heavy chain 9 gene DOID:1073 renal hypertension ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794856 8944101 Myh9 myosin heavy chain 9 gene DOID:10983 Alport syndrome ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10973259 8944101 Myh9 myosin heavy chain 9 gene DOID:1184 nephrotic syndrome ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8944101 Myh9 myosin heavy chain 9 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732401 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:19557653|PMID:23144074|PMID:24033266|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532 8944101 Myh9 myosin heavy chain 9 gene DOID:1588 thrombocytopenia ISO RGD:732401 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10973259|PMID:11159552|PMID:11590545|PMID:11776386|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:16098078|PMID:16162639|PMID:17655694|PMID:18059020|PMID:21542825|PMID:22627578|PMID:23207509|PMID:24186861|PMID:25741868|PMID:26056797|PMID:26226608|PMID:28492532|PMID:29090586|PMID:30916803|PMID:31064749|PMID:32100410|PMID:32545517|PMID:34355501 8944101 Myh9 myosin heavy chain 9 gene DOID:2213 hemorrhagic disease ISO RGD:732401 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10739770|PMID:10973259|PMID:10973260|PMID:11159552|PMID:11590545|PMID:11776386|PMID:12533692|PMID:15339844|PMID:16098078|PMID:16162639|PMID:17655694|PMID:18059020|PMID:19572073|PMID:20301740|PMID:21542825|PMID:21833445|PMID:22627578|PMID:23207509|PMID:24186861|PMID:25741868|PMID:26056797|PMID:28492532|PMID:29068549|PMID:29090586|PMID:30916803|PMID:32100410|PMID:32545517 8944101 Myh9 myosin heavy chain 9 gene DOID:2921 glomerulonephritis ISO RGD:732401 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868|PMID:28492532 8944101 Myh9 myosin heavy chain 9 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732402 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:22313957|REF_RGD_ID:6903274 8944101 Myh9 myosin heavy chain 9 gene DOID:557 kidney disease ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17576681|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 8944101 Myh9 myosin heavy chain 9 gene DOID:576 proteinuria ISO RGD:732401 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 8944101 Myh9 myosin heavy chain 9 gene DOID:576 proteinuria disease_progression ISO RGD:732401 D RGD:9068941 20200609 RGD associated with Epstein syndrome, Fechtner syndrome;DNA:missense mutation:exon:p.R702H, R702C(human) PMID:20200500|REF_RGD_ID:6903242 8944101 Myh9 myosin heavy chain 9 gene DOID:630 genetic disease ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8944101 Myh9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794854|PMID:18794856 8944101 Myh9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:20144966|REF_RGD_ID:6903243 8944101 Myh9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD associated with diabetes mellitus, type 2;DNA:SNPs: : PMID:21968013|REF_RGD_ID:6903256 8944101 Myh9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD associated with diabetes mellitus,type 2;DNA:SNPs: : PMID:19567477|REF_RGD_ID:6903238 8944101 Myh9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD associated with hypertension, glomerulosclerosis, focal segmental;DNA:SNPs: :rs4821480, rs2032487, rs4821481(human) PMID:18794854|REF_RGD_ID:6903237 8944101 Myh9 myosin heavy chain 9 gene DOID:783 end stage renal disease ISO RGD:732401 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphisms:multiple: PMID:19177153|REF_RGD_ID:6903239 8944101 Myh9 myosin heavy chain 9 gene DOID:784 chronic kidney disease no_association ISO RGD:732401 D RGD:9068941 20200609 RGD PMID:22956460|REF_RGD_ID:12798515 8944101 Myh9 myosin heavy chain 9 gene DOID:9001542 Albuminuria ISO RGD:732401 D RGD:9068941 20200609 RGD associated with hypertension;DNA:SNPs: : PMID:19153477|REF_RGD_ID:6903241 8944101 Myh9 myosin heavy chain 9 gene DOID:9002631 Vitelliform Macular Dystrophy 1 ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 PMID:24033266|PMID:24130771|PMID:25077172|PMID:26467025|PMID:28492532|PMID:30720677 8944101 Myh9 myosin heavy chain 9 gene DOID:9004538 Hearing Loss ISO RGD:732401 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:18059020|PMID:24033266|PMID:28492532|PMID:30311386|PMID:30872814 8944101 Myh9 myosin heavy chain 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 8944101 Myh9 myosin heavy chain 9 gene DOID:9005875 Giant Platelet Syndrome with Thrombocytopenia ISO RGD:732401 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia PMID:10603121|PMID:10973259|PMID:10973260|PMID:11023810|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:11935325|PMID:12533692|PMID:12621333|PMID:12649151|PMID:12792306|PMID:1449176|PMID:15339844|PMID:16098078|PMID:16162639|PMID:16818291|PMID:16969870|PMID:17146397|PMID:17655694|PMID:18059020|PMID:18330899|PMID:18676005|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:21542825|PMID:21908426|PMID:22123909|PMID:22477015|PMID:22627578|PMID:22995991|PMID:23207509|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24130771|PMID:24186861|PMID:24643058|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:25949529|PMID:26056797|PMID:26226608|PMID:26387855|PMID:26467025|PMID:28059092|PMID:28492532|PMID:29090586|PMID:29532554|PMID:29782633|PMID:29907799|PMID:30245029|PMID:30471777|PMID:30720677|PMID:30916803|PMID:31064749|PMID:32100410|PMID:32545517|PMID:32604935|PMID:32757236|PMID:33532864|PMID:34355501|PMID:36100708|PMID:5011389|PMID:8280620|PMID:9390828 8944101 Myh9 myosin heavy chain 9 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3140 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery: PMID:11003588|REF_RGD_ID:11533926 8944101 Myh9 myosin heavy chain 9 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:25741868|PMID:28492532 8944101 Myh9 myosin heavy chain 9 gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:732401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Capillary infantile hemangioma PMID:28492532 8944101 Myh9 myosin heavy chain 9 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:732401 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:22313957|REF_RGD_ID:6903274 8944101 Myh9 myosin heavy chain 9 gene DOID:9008939 Breast Neoplasms ISO RGD:732401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 8944101 Myh9 myosin heavy chain 9 gene DOID:9970 obesity ISO RGD:732401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868|PMID:31064749 8944149 Wdr33 WD repeat domain 33 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1319455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 8944149 Wdr33 WD repeat domain 33 gene DOID:630 genetic disease ISO RGD:1319455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944232 Spty2d1 SPT2 chromatin protein domain containing 1 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1603901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 8944232 Spty2d1 SPT2 chromatin protein domain containing 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603901 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8944232 Spty2d1 SPT2 chromatin protein domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1603901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8944232 Spty2d1 SPT2 chromatin protein domain containing 1 gene DOID:630 genetic disease ISO RGD:1603901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944247 C1qtnf2 C1q and TNF related 2 gene DOID:630 genetic disease ISO RGD:1348725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:733336 D RGD:9068941 20200609 RGD PMID:30100243|REF_RGD_ID:14695535 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:733336 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:27840945|REF_RGD_ID:14695545 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:0081329 glycogen storage disease I ISO RGD:736011 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency | ClinVar Annotator: match by term: Glycogen storage disease, type I PMID:10070617|PMID:10094563|PMID:10234610|PMID:10322403|PMID:10447271|PMID:10604148|PMID:10612834|PMID:10737986|PMID:10738525|PMID:10748407|PMID:10797430|PMID:10834516|PMID:10874313|PMID:10944847|PMID:10960498|PMID:11058903|PMID:11058910|PMID:11161844|PMID:11196115|PMID:11310582|PMID:11386847|PMID:11596659|PMID:11739393|PMID:11851840|PMID:11916325|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15151508|PMID:15316959|PMID:15455297|PMID:15542400|PMID:15918042|PMID:16199547|PMID:16435186|PMID:17576681|PMID:17607665|PMID:17994282|PMID:18008183|PMID:18083610|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:20509832|PMID:20532819|PMID:21599942|PMID:2172641|PMID:21983240|PMID:22899091|PMID:22909800|PMID:23000067|PMID:23046672|PMID:23312056|PMID:23352793|PMID:23486339|PMID:24033266|PMID:24082139|PMID:24385852|PMID:24565827|PMID:24980439|PMID:25308557|PMID:25333069|PMID:25492228|PMID:25640679|PMID:25741868|PMID:27511118|PMID:28074886|PMID:28360385|PMID:28397058|PMID:28492532|PMID:28659124|PMID:29374762|PMID:29486517|PMID:29581464|PMID:29750741|PMID:29970488|PMID:30279644|PMID:30890478|PMID:30956637|PMID:31415093|PMID:31508908|PMID:32046761|PMID:32313153|PMID:32772503|PMID:33101979|PMID:33224545|PMID:33258288|PMID:33763395|PMID:34093448|PMID:34258141|PMID:35811762|PMID:36160031|PMID:7525963|PMID:7573034|PMID:7623438|PMID:7655466|PMID:7668282|PMID:7744838|PMID:7814621|PMID:8163185|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9001800|PMID:9332655|PMID:9359038|PMID:9506659|PMID:9536098|PMID:9630072|PMID:9700612|PMID:9700613|PMID:9705299 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:11714 gestational diabetes ISO RGD:733336 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:12595588|REF_RGD_ID:2315965 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2747 glycogen storage disease ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:10070617|PMID:10612834|PMID:10738525|PMID:10834516|PMID:10874313|PMID:11058903|PMID:11310582|PMID:11739393|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29486517|PMID:29750741|PMID:29970488|PMID:32313153|PMID:33101979|PMID:33224545|PMID:33763395|PMID:34093448|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9332655 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia ISO RGD:736011 D RGD:7240710 20230505 OMIM 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia ISO RGD:736011 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: GSD Ia | ClinVar Annotator: match by term: Glycogen storage disease type 1A | ClinVar Annotator: match by term: Hepatorenal glycogenosis PMID:10070617|PMID:10094563|PMID:10234610|PMID:10322403|PMID:10447271|PMID:10604148|PMID:10612834|PMID:10737986|PMID:10738525|PMID:10748407|PMID:10797430|PMID:10834516|PMID:10874313|PMID:10944847|PMID:10960498|PMID:11058903|PMID:11058910|PMID:11161844|PMID:11196115|PMID:11310582|PMID:11386847|PMID:11596659|PMID:11739393|PMID:11851840|PMID:11916325|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15151508|PMID:15316959|PMID:15455297|PMID:15542400|PMID:15918042|PMID:16199547|PMID:16435186|PMID:17576681|PMID:17607665|PMID:17994282|PMID:18008183|PMID:18083610|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:20509832|PMID:20532819|PMID:21599942|PMID:2172641|PMID:21983240|PMID:22899091|PMID:22909800|PMID:23000067|PMID:23046672|PMID:23312056|PMID:23352793|PMID:23486339|PMID:24033266|PMID:24082139|PMID:24385852|PMID:24565827|PMID:24980439|PMID:25308557|PMID:25333069|PMID:25492228|PMID:25640679|PMID:25741868|PMID:27511118|PMID:28074886|PMID:28360385|PMID:28397058|PMID:28492532|PMID:28659124|PMID:29374762|PMID:29486517|PMID:29581464|PMID:29750741|PMID:29970488|PMID:30279644|PMID:30890478|PMID:30956637|PMID:31415093|PMID:31508908|PMID:32046761|PMID:32313153|PMID:32772503|PMID:33101979|PMID:33224545|PMID:33258288|PMID:33763395|PMID:34093448|PMID:34258141|PMID:35811762|PMID:36160031|PMID:7525963|PMID:7573034|PMID:7623438|PMID:7655466|PMID:7668282|PMID:7744838|PMID:7814621|PMID:8163185|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9001800|PMID:9332655|PMID:9359038|PMID:9506659|PMID:9536098|PMID:9630072|PMID:9700612|PMID:9700613|PMID:9705299 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:2749 glycogen storage disease Ia treatment ISO RGD:736011 D RGD:9068941 20230406 RGD human gene in a mouse model PMID:20389290|REF_RGD_ID:14695538 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:736011 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10070617|PMID:10604148|PMID:10612834|PMID:10738525|PMID:10834516|PMID:10874313|PMID:11058903|PMID:11310582|PMID:11739393|PMID:11949931|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:19541498|PMID:19762333|PMID:19815695|PMID:20301489|PMID:20509832|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:24980439|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29486517|PMID:29581464|PMID:29750741|PMID:29970488|PMID:30279644|PMID:30956637|PMID:32313153|PMID:33101979|PMID:33224545|PMID:33763395|PMID:34093448|PMID:34258141|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8733042|PMID:8734807|PMID:9332655|PMID:9630072 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:736011 D RGD:9068941 20200609 RGD associated with Glycogen Storage Disease IA, human gene in a mouse model PMID:28096054|REF_RGD_ID:14695537 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736011 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2644 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (rat) PMID:23744881|REF_RGD_ID:14695550 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2644 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15448092|REF_RGD_ID:2315963 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2644 D RGD:9068941 20200609 RGD protein:increased activity:liver, kidney PMID:16176150|REF_RGD_ID:2315960 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2644 D RGD:9068941 20200609 RGD PMID:27366200|REF_RGD_ID:14695533 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:2644 D RGD:9068941 20230914 RGD PMID:27821167|REF_RGD_ID:401799622 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733336 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:28189721|REF_RGD_ID:14695531 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007637 Glycogen Storage Disease IA ISO RGD:12418787 D RGD:9068941 20230525 OMIA Glycogen storage disease Ia PMID:11199168|PMID:12101432|PMID:18362924|PMID:19293457|PMID:20163245|PMID:21318173|PMID:21654821|PMID:22185325|PMID:22310927|PMID:23623482|PMID:29802554|PMID:30043186|PMID:31890731|PMID:33348688|PMID:34610166|PMID:36006546|PMID:37021039|PMID:37206367|PMID:8578635|PMID:9259982 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007661 Dwarfism ISO RGD:736011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:10612834|PMID:10834516|PMID:10874313|PMID:11310582|PMID:11739393|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:20301489|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29750741|PMID:32313153|PMID:33224545|PMID:33763395|PMID:34093448|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8734807|PMID:9332655 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9007874 Liver Failure disease_progression ISO RGD:736011 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:24583248|REF_RGD_ID:14695536 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2644 D RGD:9068941 20200609 RGD PMID:16396963|REF_RGD_ID:2315959 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733336 D RGD:9068941 20200609 RGD PMID:8865366|REF_RGD_ID:728661 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736011 D RGD:9068941 20200609 RGD protein:increased activity:liver PMID:10866049|REF_RGD_ID:2315966 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9452 steatotic liver disease ISO RGD:2644 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:29534506|REF_RGD_ID:14695544 8944265 G6pc1 glucose-6-phosphatase catalytic subunit 1 gene DOID:9993 hypoglycemia ISO RGD:736011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:10612834|PMID:10834516|PMID:10874313|PMID:11310582|PMID:11739393|PMID:12093795|PMID:12373566|PMID:12713862|PMID:15316959|PMID:18008183|PMID:18449899|PMID:20301489|PMID:21599942|PMID:2172641|PMID:23312056|PMID:24033266|PMID:24082139|PMID:24385852|PMID:25308557|PMID:25333069|PMID:25741868|PMID:28397058|PMID:28492532|PMID:29750741|PMID:32313153|PMID:33224545|PMID:33763395|PMID:34093448|PMID:7573034|PMID:7623438|PMID:7744838|PMID:7814621|PMID:8182131|PMID:8211187|PMID:8734807|PMID:9332655 8944278 Tex11 testis expressed 11 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8944278 Tex11 testis expressed 11 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25970010|PMID:28132688 8944278 Tex11 testis expressed 11 gene DOID:0070185 X-linked spermatogenic failure 2 ISO RGD:1347600 D RGD:7240710 20180130 OMIM 8944278 Tex11 testis expressed 11 gene DOID:0070185 X-linked spermatogenic failure 2 ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 PMID:25970010|PMID:28492532 8944278 Tex11 testis expressed 11 gene DOID:1059 intellectual disability ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 8944278 Tex11 testis expressed 11 gene DOID:12849 autistic disorder ISO RGD:1347600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8944278 Tex11 testis expressed 11 gene DOID:630 genetic disease ISO RGD:1347600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944278 Tex11 testis expressed 11 gene DOID:9007898 FG Syndrome 1 ISO RGD:1347600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 8944312 Fam20b FAM20B glycosaminoglycan xylosylkinase gene DOID:1540 parathyroid carcinoma ISO RGD:1322474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8944312 Fam20b FAM20B glycosaminoglycan xylosylkinase gene DOID:630 genetic disease ISO RGD:1322474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944312 Fam20b FAM20B glycosaminoglycan xylosylkinase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1322474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8944312 Fam20b FAM20B glycosaminoglycan xylosylkinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8944343 Asic3 acid sensing ion channel subunit 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1353665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 8944343 Asic3 acid sensing ion channel subunit 3 gene DOID:2843 long QT syndrome ISO RGD:1353665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 8944343 Asic3 acid sensing ion channel subunit 3 gene DOID:630 genetic disease ISO RGD:1353665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944343 Asic3 acid sensing ion channel subunit 3 gene DOID:9005372 Inflammation ISO RGD:1353665 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 8944361 Fbxo30 F-box protein 30 gene DOID:630 genetic disease ISO RGD:1347238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944367 Pole2 DNA polymerase epsilon 2, accessory subunit gene DOID:630 genetic disease ISO RGD:1323687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8944367 Pole2 DNA polymerase epsilon 2, accessory subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323687 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8944367 Pole2 DNA polymerase epsilon 2, accessory subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1323687 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8944397 Agrn agrin gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8944397 Agrn agrin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606873 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8944397 Agrn agrin gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8944397 Agrn agrin gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8944397 Agrn agrin gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606873 D RGD:7240710 20180808 OMIM 8944397 Agrn agrin gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606873 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19631309|PMID:22205389|PMID:24951643|PMID:25741868|PMID:25741872|PMID:26467025|PMID:28221305|PMID:28492532|PMID:29258548|PMID:30994901|PMID:31167812|PMID:32221959|PMID:32271162|PMID:33059315|PMID:33756069|PMID:35002215|PMID:35670010|PMID:35948834|PMID:9536098 8944397 Agrn agrin gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8944397 Agrn agrin gene DOID:0111934 immunodeficiency 38 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8944397 Agrn agrin gene DOID:0111935 immunodeficiency 16 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8944397 Agrn agrin gene DOID:3635 congenital myasthenic syndrome ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:19631309|PMID:22205389|PMID:24951643|PMID:28221305|PMID:28492532|PMID:30994901|PMID:33756069 8944397 Agrn agrin gene DOID:630 genetic disease ISO RGD:1606873 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:35948834 8944397 Agrn agrin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8944397 Agrn agrin gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8944397 Agrn agrin gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8944397 Agrn agrin gene DOID:9119 acute myeloid leukemia ISO RGD:1606873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8944439 Sdc3 syndecan 3 gene DOID:630 genetic disease ISO RGD:1343030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944439 Sdc3 syndecan 3 gene DOID:9970 obesity ISO RGD:1343030 D RGD:7240710 20180130 OMIM 8944439 Sdc3 syndecan 3 gene DOID:9970 obesity ISO RGD:1343030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity, association with PMID:17018662 8944462 LOC102004212 cytochrome P450 2F3 gene DOID:0060041 autism spectrum disorder ISO RGD:1351527 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8944462 LOC102004212 cytochrome P450 2F3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8944462 LOC102004212 cytochrome P450 2F3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8944462 LOC102004212 cytochrome P450 2F3 gene DOID:2340 craniosynostosis ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8944462 LOC102004212 cytochrome P450 2F3 gene DOID:630 genetic disease ISO RGD:1351527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944462 LOC102004212 cytochrome P450 2F3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:733763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8944462 LOC102004212 cytochrome P450 2F3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8944462 LOC102004212 cytochrome P450 2F3 gene DOID:9269 maple syrup urine disease ISO RGD:1351527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736986 D RGD:7240710 20180130 OMIM 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:736986 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10742096|PMID:11729243|PMID:11733557|PMID:11805166|PMID:11805168|PMID:11854170|PMID:12464671|PMID:12608558|PMID:12644922|PMID:12649741|PMID:12707396|PMID:12776285|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15015071|PMID:15042551|PMID:15059485|PMID:1523708|PMID:15253708|PMID:15264208|PMID:15322893|PMID:15327385|PMID:15496146|PMID:15504144|PMID:15769810|PMID:15780077|PMID:15817495|PMID:15954915|PMID:15968559|PMID:16199547|PMID:16286890|PMID:16291839|PMID:16354237|PMID:16481888|PMID:16721582|PMID:16810518|PMID:16898497|PMID:16900088|PMID:17109732|PMID:17216259|PMID:17218332|PMID:17371932|PMID:17576681|PMID:17699384|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18380020|PMID:18443213|PMID:18499321|PMID:18596732|PMID:18683072|PMID:18709391|PMID:18726620|PMID:18823551|PMID:19067903|PMID:19145239|PMID:19268410|PMID:19371226|PMID:19406966|PMID:19520069|PMID:19674119|PMID:19812541|PMID:19876656|PMID:20001346|PMID:20333530|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21125408|PMID:21171529|PMID:21355056|PMID:21415313|PMID:21636722|PMID:21722858|PMID:22228437|PMID:22565185|PMID:22578956|PMID:22763815|PMID:23013956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:23913389|PMID:24033266|PMID:24072147|PMID:24089165|PMID:24227627|PMID:24413855|PMID:24500309|PMID:24509478|PMID:24511133|PMID:24715228|PMID:24742477|PMID:24856380|PMID:24969201|PMID:25060053|PMID:25349199|PMID:25525159|PMID:25573908|PMID:25599733|PMID:25720465|PMID:25741868|PMID:25852895|PMID:25903641|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:26594346|PMID:26668027|PMID:26820844|PMID:27885584|PMID:28117080|PMID:28204945|PMID:28385484|PMID:28476686|PMID:28492532|PMID:28529802|PMID:28658201|PMID:28712774|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29869118|PMID:29982877|PMID:30013592|PMID:30241959|PMID:30260545|PMID:30295827|PMID:30348286|PMID:30406062|PMID:30450462|PMID:30609409|PMID:30655312|PMID:30721404|PMID:31027891|PMID:31308032|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:32604935|PMID:33102883|PMID:33193607|PMID:33305316|PMID:33428103|PMID:33532864|PMID:34031707|PMID:34405919|PMID:34853150|PMID:36167728|PMID:8589695|PMID:8606597|PMID:9536098 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:736986 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome PMID:10742096|PMID:11729243|PMID:11805166|PMID:11805168|PMID:12464671|PMID:12644922|PMID:12707396|PMID:12776285|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15042551|PMID:15059485|PMID:15253708|PMID:15264208|PMID:15322893|PMID:15496146|PMID:15769810|PMID:15817495|PMID:15954915|PMID:16286890|PMID:16291839|PMID:16354237|PMID:16721582|PMID:16810518|PMID:16898497|PMID:16900088|PMID:17109732|PMID:17699384|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18683072|PMID:18823551|PMID:19067903|PMID:19145239|PMID:19371226|PMID:19406966|PMID:19674119|PMID:19812541|PMID:19876656|PMID:20333530|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:22578956|PMID:23013956|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:24033266|PMID:24072147|PMID:24227627|PMID:24509478|PMID:24742477|PMID:25349199|PMID:25525159|PMID:25720465|PMID:25741868|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:27885584|PMID:28385484|PMID:28492532|PMID:28658201|PMID:28712774|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29982877|PMID:30013592|PMID:30348286|PMID:30609409|PMID:30655312|PMID:32129207|PMID:32581362|PMID:32604935|PMID:33102883|PMID:33305316|PMID:33532864|PMID:8589695 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:10976 membranous glomerulonephritis ISO RGD:620461 D RGD:9068941 20200609 RGD PMID:15882266|REF_RGD_ID:1598706 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:1184 nephrotic syndrome ISO RGD:736986 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome PMID:10742096|PMID:11729243|PMID:11805166|PMID:11854170|PMID:12464671|PMID:12649741|PMID:12707396|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15042551|PMID:15059485|PMID:15253708|PMID:15322893|PMID:15327385|PMID:15954915|PMID:16481888|PMID:16810518|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18443213|PMID:18499321|PMID:18823551|PMID:19067903|PMID:19145239|PMID:19268410|PMID:19371226|PMID:19406966|PMID:19520069|PMID:19674119|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:22763815|PMID:23013956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24089165|PMID:24227627|PMID:24500309|PMID:24509478|PMID:24715228|PMID:24742477|PMID:24856380|PMID:24969201|PMID:25349199|PMID:25599733|PMID:25741868|PMID:25852895|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:27193387|PMID:28385484|PMID:28492532|PMID:28529802|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29869118|PMID:29982877|PMID:30241959|PMID:30260545|PMID:30280213|PMID:30348286|PMID:30655312|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:33102883|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:8589695 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:1184 nephrotic syndrome treatment ISO RGD:620461 D RGD:9068941 20200609 RGD PMID:15942045|REF_RGD_ID:1598707 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:736986 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10742096|PMID:11805166|PMID:11805168|PMID:11854170|PMID:12464671|PMID:12644922|PMID:12707396|PMID:12776285|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15042551|PMID:1523708|PMID:15253708|PMID:15264208|PMID:15327385|PMID:15496146|PMID:15769810|PMID:15954915|PMID:15968559|PMID:16286890|PMID:16291839|PMID:16481888|PMID:16810518|PMID:16900088|PMID:17109732|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18683072|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19406966|PMID:19520069|PMID:19812541|PMID:20333530|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21636722|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24072147|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24742477|PMID:24969201|PMID:25349199|PMID:25525159|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:27885584|PMID:28492532|PMID:28529802|PMID:28658201|PMID:28712774|PMID:28780565|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:30655312|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:8589695 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:1540 parathyroid carcinoma ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:2527 nephrosis ISO RGD:736986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15684566 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:2590 familial nephrotic syndrome ISO RGD:736986 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Hereditary nephrotic syndrome PMID:15954915|PMID:25741868|PMID:26467025|PMID:28492532 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:557 kidney disease ISO RGD:736986 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:15954915|PMID:25741868|PMID:26467025|PMID:28492532 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:576 proteinuria ISO RGD:736986 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:11805166|PMID:11854170|PMID:12464671|PMID:14675423|PMID:14978175|PMID:15253708|PMID:15327385|PMID:15504144|PMID:15954915|PMID:16481888|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19520069|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23645318|PMID:23800802|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24969201|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28529802|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:630 genetic disease ISO RGD:736986 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10742096|PMID:11805166|PMID:11854170|PMID:12464671|PMID:12707396|PMID:14675423|PMID:14978175|PMID:15327385|PMID:15496146|PMID:15769810|PMID:15817495|PMID:15954915|PMID:16481888|PMID:16900088|PMID:17371932|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19520069|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23645318|PMID:23800802|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24969201|PMID:25349199|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26668027|PMID:28476686|PMID:28492532|PMID:28529802|PMID:28780565|PMID:29382718|PMID:29644057|PMID:29660491|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:31027891|PMID:31308032|PMID:31738409|PMID:32129207|PMID:32467597|PMID:33102883|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:36167728|PMID:8589695 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:784 chronic kidney disease ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:10742096|PMID:11729243|PMID:11805166|PMID:11854170|PMID:12649741|PMID:14570703|PMID:14675423|PMID:14978175|PMID:15253708|PMID:15327385|PMID:17371932|PMID:17942957|PMID:18216321|PMID:18443213|PMID:18823551|PMID:19371226|PMID:19406966|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:23242530|PMID:24089165|PMID:24227627|PMID:24500309|PMID:24509478|PMID:24742477|PMID:24856380|PMID:25349199|PMID:25741868|PMID:25852895|PMID:26467025|PMID:28492532|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29982877|PMID:30655312|PMID:32129207|PMID:32581362|PMID:8589695 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:9001542 Albuminuria ISO RGD:736986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15684566 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:620461 D RGD:9068941 20230202 RGD associated with maternal low protein diet; protein:decreased expression:kidney (rat) PMID:23977013|REF_RGD_ID:155882570 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8944476 Nphs2 NPHS2 stomatin family member, podocin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8944506 Msgn1 mesogenin 1 gene DOID:4450 renal cell carcinoma ISO RGD:1602271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8944506 Msgn1 mesogenin 1 gene DOID:630 genetic disease ISO RGD:1602271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944509 Rdx radixin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1348654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 8944509 Rdx radixin gene DOID:0110482 autosomal recessive nonsyndromic deafness 24 ISO RGD:1348654 D RGD:7240710 20180130 OMIM 8944509 Rdx radixin gene DOID:0110482 autosomal recessive nonsyndromic deafness 24 ISO RGD:1348654 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 24 PMID:17226784|PMID:19215054|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27231709|PMID:28492532|PMID:29986705|PMID:30311386|PMID:32747562 8944509 Rdx radixin gene DOID:1059 intellectual disability ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8944509 Rdx radixin gene DOID:12308 Dubin-Johnson syndrome ISO RGD:1553217 D RGD:9068941 20220825 MouseDO OMIM:237500 8944509 Rdx radixin gene DOID:12704 ataxia telangiectasia ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8944509 Rdx radixin gene DOID:13580 cholestasis ISO RGD:1348654 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17681005 8944509 Rdx radixin gene DOID:630 genetic disease ISO RGD:1348654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8944509 Rdx radixin gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8944509 Rdx radixin gene DOID:9004538 Hearing Loss ISO RGD:1348654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868|PMID:30311386 8944536 Sec63 SEC63 homolog, protein translocation regulator gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1312738 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8944536 Sec63 SEC63 homolog, protein translocation regulator gene DOID:0050770 polycystic liver disease ISO RGD:1312738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:20095989|PMID:25741868 8944536 Sec63 SEC63 homolog, protein translocation regulator gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISO RGD:1312738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease 8944536 Sec63 SEC63 homolog, protein translocation regulator gene DOID:0080322 polycystic kidney disease ISO RGD:1312738 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 8944536 Sec63 SEC63 homolog, protein translocation regulator gene DOID:630 genetic disease ISO RGD:1312738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8944536 Sec63 SEC63 homolog, protein translocation regulator gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1312738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Isolated polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:20095989|PMID:25741868|PMID:28492532 8944536 Sec63 SEC63 homolog, protein translocation regulator gene DOID:9006964 Polycystic Liver Disease 2 ISO RGD:1312738 D RGD:7240710 20190315 OMIM 8944536 Sec63 SEC63 homolog, protein translocation regulator gene DOID:9006964 Polycystic Liver Disease 2 ISO RGD:1312738 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 2 PMID:15133510|PMID:17576681|PMID:20095989|PMID:24033266|PMID:25741868|PMID:28375157|PMID:28492532|PMID:9536098 8944561 Bicc1 BicC family RNA binding protein 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1316666 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 8944561 Bicc1 BicC family RNA binding protein 1 gene DOID:0080205 CAKUT ISO RGD:1316665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 8944561 Bicc1 BicC family RNA binding protein 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1316666 D RGD:9068941 20220825 MouseDO OMIM:263200 8944561 Bicc1 BicC family RNA binding protein 1 gene DOID:0111682 diffuse cystic renal dysplasia ISO RGD:1316665 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to PMID:21922595|PMID:25741868|PMID:28492532 8944561 Bicc1 BicC family RNA binding protein 1 gene DOID:0111682 diffuse cystic renal dysplasia susceptibility ISO RGD:1316665 D RGD:7240710 20200219 OMIM 8944561 Bicc1 BicC family RNA binding protein 1 gene DOID:14766 renal agenesis ISO RGD:1316665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 8944561 Bicc1 BicC family RNA binding protein 1 gene DOID:2975 cystic kidney disease ISO RGD:1316666 D RGD:9068941 20220825 MouseDO 8944561 Bicc1 BicC family RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1316665 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8944561 Bicc1 BicC family RNA binding protein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1316666 D RGD:9068941 20220825 MouseDO 8944585 Retreg1 reticulophagy regulator 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1601869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838196 8944585 Retreg1 reticulophagy regulator 1 gene DOID:0070150 hereditary sensory and autonomic neuropathy type 2B ISO RGD:1601869 D RGD:7240710 20180130 OMIM 8944585 Retreg1 reticulophagy regulator 1 gene DOID:0070150 hereditary sensory and autonomic neuropathy type 2B ISO RGD:1601869 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2B PMID:17576681|PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532|PMID:31737055|PMID:33199694|PMID:35332675|PMID:9536098 8944585 Retreg1 reticulophagy regulator 1 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1601869 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:25741868|PMID:28492532 8944585 Retreg1 reticulophagy regulator 1 gene DOID:0070161 hereditary sensory and autonomic neuropathy type 2 ISO RGD:1601869 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2 PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532|PMID:31737055|PMID:33199694|PMID:35332675 8944585 Retreg1 reticulophagy regulator 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1601869 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532|PMID:31737055|PMID:33199694|PMID:35332675 8944585 Retreg1 reticulophagy regulator 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1601869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868 8944585 Retreg1 reticulophagy regulator 1 gene DOID:630 genetic disease ISO RGD:1601869 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19838196|PMID:25741868|PMID:28492532|PMID:31737055|PMID:33199694|PMID:35332675 8944585 Retreg1 reticulophagy regulator 1 gene DOID:9003855 Vesicoureteral Reflux 5 ISO RGD:12057336 D RGD:9068941 20210820 OMIA Neuropathy, sensory, RETREG1-related PMID:15971901|PMID:16266014|PMID:23123885|PMID:27527794|PMID:30307654|PMID:30955094|PMID:34387380|PMID:6295050 8944585 Retreg1 reticulophagy regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601869 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8944602 Ptafr platelet activating factor receptor gene DOID:10247 pleurisy treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:8395390|REF_RGD_ID:10043147 8944602 Ptafr platelet activating factor receptor gene DOID:11446 sciatic neuropathy ISO RGD:61897 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, microglia (rat) PMID:22296727|REF_RGD_ID:9999207 8944602 Ptafr platelet activating factor receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:733075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8944602 Ptafr platelet activating factor receptor gene DOID:1227 neutropenia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:3011900|REF_RGD_ID:10043179 8944602 Ptafr platelet activating factor receptor gene DOID:224 transient cerebral ischemia ISO RGD:61897 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:17268849|REF_RGD_ID:9999221 8944602 Ptafr platelet activating factor receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:8158141|REF_RGD_ID:10043297 8944602 Ptafr platelet activating factor receptor gene DOID:2921 glomerulonephritis treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:1668710|REF_RGD_ID:10041057 8944602 Ptafr platelet activating factor receptor gene DOID:3021 acute kidney failure treatment ISO RGD:61897 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:2538527|REF_RGD_ID:10043182 8944602 Ptafr platelet activating factor receptor gene DOID:6195 conjunctivitis ISO RGD:61897 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva, eosinophil (rat) PMID:15735601|REF_RGD_ID:9999205 8944602 Ptafr platelet activating factor receptor gene DOID:630 genetic disease ISO RGD:733075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944602 Ptafr platelet activating factor receptor gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:17515866|REF_RGD_ID:9999208 8944602 Ptafr platelet activating factor receptor gene DOID:8778 Crohn's disease ISO RGD:733075 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 8944602 Ptafr platelet activating factor receptor gene DOID:9000728 Traumatic Shock treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:2165204|REF_RGD_ID:10043180 8944602 Ptafr platelet activating factor receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8944602 Ptafr platelet activating factor receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:16925995|REF_RGD_ID:10041052 8944602 Ptafr platelet activating factor receptor gene DOID:9002906 Multiple Organ Failure treatment ISO RGD:61897 D RGD:9068941 20200609 RGD associated with Pancreatitis, Experimental PMID:9750012|REF_RGD_ID:10043149 8944602 Ptafr platelet activating factor receptor gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:12356842|REF_RGD_ID:10041062 8944602 Ptafr platelet activating factor receptor gene DOID:9004009 Reperfusion Injury ISO RGD:62190 D RGD:9068941 20200609 RGD PMID:12812996|REF_RGD_ID:1581279 8944602 Ptafr platelet activating factor receptor gene DOID:9004009 Reperfusion Injury treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:11139461|REF_RGD_ID:10043168 8944602 Ptafr platelet activating factor receptor gene DOID:9004590 Acute Liver Failure ISO RGD:61897 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:11414308|REF_RGD_ID:10043144 8944602 Ptafr platelet activating factor receptor gene DOID:9005930 Endotoxemia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:2178565|REF_RGD_ID:10041063 8944602 Ptafr platelet activating factor receptor gene DOID:9006024 Hypotension treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:3011900|REF_RGD_ID:10043179 8944602 Ptafr platelet activating factor receptor gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:61897 D RGD:9068941 20200609 RGD PMID:21633536|REF_RGD_ID:9999225 8944602 Ptafr platelet activating factor receptor gene DOID:9008232 Neutrophilia treatment ISO RGD:61897 D RGD:9068941 20200609 RGD associated with Scorpion Stings PMID:10770284|REF_RGD_ID:10043145 8944602 Ptafr platelet activating factor receptor gene DOID:9008821 Otitis Media with Effusion treatment IMP D RGD:11554333|PMID:14759570 20161026 RGD 8944614 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:0060476 Perlman syndrome ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8944614 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:1314368 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 16 PMID:18179896|PMID:21763485|PMID:23255580|PMID:23977131|PMID:25326637|PMID:25475713|PMID:25741868|PMID:25921210|PMID:27203561|PMID:28492532|PMID:29068479|PMID:32507954 8944614 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8944614 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration PMID:18179896|PMID:23255580|PMID:23977131|PMID:25741868|PMID:28492532|PMID:33546218 8944614 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25326637 8944614 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:630 genetic disease ISO RGD:1314368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8944614 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:8501 fundus dystrophy ISO RGD:1314368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 8944614 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8944614 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:9007737 Parkinson's Disease 11 ISO RGD:1314368 D RGD:7240710 20180130 OMIM 8944614 Gigyf2 GRB10 interacting GYF protein 2 gene DOID:9007737 Parkinson's Disease 11 ISO RGD:1314368 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: GIGYF2-related condition | ClinVar Annotator: match by term: Parkinson disease 11, autosomal dominant, susceptibility to PMID:18358451|PMID:18923002|PMID:19133664|PMID:19250854|PMID:19279319|PMID:19449032|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26152800 8944647 Kndc1 kinase non-catalytic C-lobe domain containing 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1351519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8944647 Kndc1 kinase non-catalytic C-lobe domain containing 1 gene DOID:3007 breast ductal carcinoma ISO RGD:1351519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8944647 Kndc1 kinase non-catalytic C-lobe domain containing 1 gene DOID:630 genetic disease ISO RGD:1351519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944678 Gapvd1 GTPase activating protein and VPS9 domains 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8944716 Prr3 proline rich 3 gene DOID:11372 megacolon ISO RGD:1343981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8944716 Prr3 proline rich 3 gene DOID:630 genetic disease ISO RGD:1343981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944731 Eif4e1b eukaryotic translation initiation factor 4E family member 1B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1601810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8944731 Eif4e1b eukaryotic translation initiation factor 4E family member 1B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1601810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8944731 Eif4e1b eukaryotic translation initiation factor 4E family member 1B gene DOID:14748 Sotos syndrome ISO RGD:1601810 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8944731 Eif4e1b eukaryotic translation initiation factor 4E family member 1B gene DOID:630 genetic disease ISO RGD:1601810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944731 Eif4e1b eukaryotic translation initiation factor 4E family member 1B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1601810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8944731 Eif4e1b eukaryotic translation initiation factor 4E family member 1B gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1601810 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:1059 intellectual disability ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:1339 Diamond-Blackfan anemia ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:1342 congenital hypoplastic anemia ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:2340 craniosynostosis ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:630 genetic disease ISO RGD:734102 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17922217|PMID:1867199|PMID:1885764|PMID:1943689|PMID:20136525|PMID:20301495|PMID:2060625|PMID:21098507|PMID:2241958|PMID:22593002|PMID:22727569|PMID:25333063|PMID:25741868|PMID:26257134|PMID:26830710|PMID:2703538|PMID:28170084|PMID:28492532|PMID:31980395|PMID:31998365|PMID:32812330|PMID:33300147|PMID:8037208|PMID:9582350 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:734102 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2196 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:9460082|REF_RGD_ID:1599467 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9008834 Maple Syrup Urine Disease, Type 1A ISO RGD:734102 D RGD:7240710 20240214 OMIM 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9008834 Maple Syrup Urine Disease, Type 1A ISO RGD:734102 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease type 1A PMID:10694918|PMID:10745006|PMID:11069910|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:14742428|PMID:16199547|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:20136525|PMID:20301495|PMID:20431954|PMID:2060625|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23765052|PMID:24374108|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26786177|PMID:26830710|PMID:26901124|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:29306928|PMID:29740775|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:31998365|PMID:32193832|PMID:32812330|PMID:33300147|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:16199547|PMID:16468966|PMID:16786533|PMID:1682165|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:20136525|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26786177|PMID:26830710|PMID:26901124|PMID:26937410|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:32193832|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:16199547|PMID:16468966|PMID:16786533|PMID:1682165|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:20136525|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26786177|PMID:26830710|PMID:26901124|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32193832|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:14742428|PMID:16199547|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:19763152|PMID:20136525|PMID:20301495|PMID:20307669|PMID:20431954|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:22406018|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:26901124|PMID:26937410|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:31998365|PMID:32005694|PMID:32193832|PMID:32812330|PMID:33300147|PMID:34556729|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 8944742 Bckdha branched chain keto acid dehydrogenase E1 subunit alpha gene DOID:9269 maple syrup urine disease ISO RGD:734102 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease PMID:10694918|PMID:10745006|PMID:11069910|PMID:11448970|PMID:11507102|PMID:11825067|PMID:12888983|PMID:1356170|PMID:14517957|PMID:14567968|PMID:14742428|PMID:16199547|PMID:16468966|PMID:16472748|PMID:16786533|PMID:1682165|PMID:17329260|PMID:17576681|PMID:17922217|PMID:18378174|PMID:1867199|PMID:1885764|PMID:1943689|PMID:19456321|PMID:19480318|PMID:19715473|PMID:19763152|PMID:20136525|PMID:20301495|PMID:20307669|PMID:20431954|PMID:2060625|PMID:20852892|PMID:21098507|PMID:21228398|PMID:21844576|PMID:22145486|PMID:22406018|PMID:2241958|PMID:22593002|PMID:22727569|PMID:23757202|PMID:23765052|PMID:24033266|PMID:24374108|PMID:24772966|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:26901124|PMID:26937410|PMID:2703538|PMID:27403441|PMID:28170084|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31980395|PMID:31998365|PMID:32005694|PMID:32193832|PMID:32812330|PMID:33300147|PMID:33996492|PMID:34556729|PMID:34738771|PMID:7883996|PMID:8037208|PMID:8161368|PMID:9536098|PMID:9582350 8944773 Kcna3 potassium voltage-gated channel subfamily A member 3 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1342945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8944773 Kcna3 potassium voltage-gated channel subfamily A member 3 gene DOID:10763 hypertension ISO RGD:1342945 D RGD:9068941 20230831 RGD protein:increased activity:T cell (human) PMID:24524604|REF_RGD_ID:401794566 8944773 Kcna3 potassium voltage-gated channel subfamily A member 3 gene DOID:12849 autistic disorder ISO RGD:1342945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8944773 Kcna3 potassium voltage-gated channel subfamily A member 3 gene DOID:630 genetic disease ISO RGD:1342945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944773 Kcna3 potassium voltage-gated channel subfamily A member 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1342945 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8944780 Tbc1d16 TBC1 domain family member 16 gene DOID:630 genetic disease ISO RGD:1345819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944780 Tbc1d16 TBC1 domain family member 16 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1345819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:0070304 multiple epiphyseal dysplasia 3 ISO RGD:1321049 D RGD:7240710 20240308 OMIM 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:0070304 multiple epiphyseal dysplasia 3 ISO RGD:1321049 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3, with myopathy PMID:10090888|PMID:10655510|PMID:10678658|PMID:15551337|PMID:16199547|PMID:24033266|PMID:24273071|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31090205|PMID:32483926|PMID:33570243|PMID:33633367 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:0080046 Stickler syndrome ISO RGD:1321049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive Stickler syndrome | ClinVar Annotator: match by term: Stickler syndrome PMID:24273071|PMID:25741868|PMID:28492532|PMID:30450842|PMID:31090205|PMID:33570243 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1321049 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1321049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:25741868|PMID:28492532 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1321049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant PMID:28492532 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:1826 epilepsy ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:2256 osteochondrodysplasia ISO RGD:1321049 D RGD:9068941 20200609 RGD multiple epiphyseal dysplasia, OMIM:600969, DNA:splice-site mutation PMID:10090888|REF_RGD_ID:1600695 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:5327 retinal detachment ISO RGD:1321049 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal detachment PMID:25741868|PMID:28492532|PMID:32483926|PMID:33633367 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:630 genetic disease ISO RGD:1321049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24273071|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31090205 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:65 connective tissue disease ISO RGD:1321049 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11308397|PMID:11565064|PMID:15917166|PMID:24033266|PMID:24273071|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28507545|PMID:30467950|PMID:31090205|PMID:32483926|PMID:33633367 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1321049 D RGD:7240710 20240308 OMIM 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1321049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intervertebral disc disease | ClinVar Annotator: match by term: Intervertebral disc disease, susceptibility to PMID:11308397|PMID:24273071|PMID:25741868|PMID:28492532|PMID:31090205|PMID:33570243 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:9000819 Stickler Syndrome, Type VI ISO RGD:1321049 D RGD:7240710 20240308 OMIM 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:9000819 Stickler Syndrome, Type VI ISO RGD:1321049 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Stickler syndrome, type VI PMID:24273071|PMID:25741868|PMID:28492532|PMID:30450842|PMID:31090205|PMID:33570243|PMID:35241111 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:9004538 Hearing Loss ISO RGD:1321049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 8944805 Col9a3 collagen type IX alpha 3 chain gene DOID:9006876 Autoinflammation, Immune Dysregulation, and Eosinophilia ISO RGD:12254343 D RGD:9068941 20210903 OMIA Oculoskeletal dysplasia 1 PMID:1525714|PMID:20686772|PMID:22065099|PMID:31415586|PMID:31595625|PMID:31746146|PMID:3204050|PMID:830631 8944841 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:0060041 autism spectrum disorder ISO RGD:733821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8944841 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:1059 intellectual disability ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15970596|PMID:19946266|PMID:20007474|PMID:25741868|PMID:25864721|PMID:29220673 8944841 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:11830 myopia ISO RGD:733821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 8944841 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:12704 ataxia telangiectasia ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8944841 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:303 substance-related disorder ISO RGD:733821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8944841 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:5419 schizophrenia susceptibility ISO RGD:733821 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:exon, introns: A>G (rs609239), A>G (rs641574), A>G (rs659840) (human) PMID:12497607|REF_RGD_ID:1358642 8944841 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:630 genetic disease ISO RGD:733821 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15970596|PMID:19946266|PMID:20007474|PMID:25741868|PMID:25864721|PMID:28492532|PMID:29220673 8944841 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8944841 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9008086 Developmental Disabilities ISO RGD:733821 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8944841 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9009124 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES ISO RGD:733821 D RGD:7240710 20190315 OMIM 8944841 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9009124 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES ISO RGD:733821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without seizures and gait abnormalities PMID:15970596|PMID:19946266|PMID:20007474|PMID:25741868|PMID:25864721|PMID:29220673 8944841 Gria4 glutamate ionotropic receptor AMPA type subunit 4 gene DOID:9970 obesity ISO RGD:733821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 8944882 Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 gene DOID:10283 prostate cancer ISO RGD:1342953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8944882 Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 gene DOID:630 genetic disease ISO RGD:1342953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944882 Enpp7 ectonucleotide pyrophosphatase/phosphodiesterase 7 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1342953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:0110216 Leber congenital amaurosis 11 ISO RGD:1322388 D RGD:7240710 20180130 OMIM 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:0110216 Leber congenital amaurosis 11 ISO RGD:1322388 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 11 PMID:16384941|PMID:17851563|PMID:19480389|PMID:20045992|PMID:20238057|PMID:20718729|PMID:24244438|PMID:25741868|PMID:26558346|PMID:28492532|PMID:30718709|PMID:32531858 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:0110388 retinitis pigmentosa 10 ISO RGD:1322388 D RGD:7240710 20180130 OMIM 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:0110388 retinitis pigmentosa 10 ISO RGD:1322388 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: IMPDH1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 10 PMID:11875049|PMID:11875050|PMID:15851576|PMID:15882147|PMID:16384941|PMID:16671097|PMID:21791244|PMID:25741868|PMID:26720483|PMID:28492532|PMID:28945494|PMID:33090715 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20045992|PMID:20718729|PMID:24244438|PMID:25741868|PMID:28166811|PMID:28492532|PMID:30718709 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20045992|PMID:20718729|PMID:24244438|PMID:25741868|PMID:28492532|PMID:30718709 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20045992|PMID:20718729|PMID:24244438|PMID:25698705|PMID:25741868|PMID:28492532|PMID:30718709 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1322388 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:14981049|PMID:16199547|PMID:20045992|PMID:20718729|PMID:24244438|PMID:25698705|PMID:25741868|PMID:28492532|PMID:30718709|PMID:32531858|PMID:33090715 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:30718709 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:1322388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:8466 retinal degeneration ISO RGD:1551714 D RGD:9068941 20200609 RGD PMID:14981049|REF_RGD_ID:5144136 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:8466 retinal degeneration ISO RGD:1551714 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (mouse) PMID:11875049|REF_RGD_ID:5144221 8944889 Impdh1 inosine monophosphate dehydrogenase 1 gene DOID:8501 fundus dystrophy ISO RGD:1322388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:28492532|PMID:9536098 8944925 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:0060483 MEDNIK syndrome ISO RGD:1314226 D RGD:7240710 20180130 OMIM 8944925 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:0060483 MEDNIK syndrome ISO RGD:1314226 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MEDNIK syndrome PMID:16199547|PMID:1905767|PMID:19057675|PMID:23423674|PMID:25741868|PMID:28492532|PMID:30244301 8944925 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:1852 intrahepatic cholestasis ISO RGD:1314226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23423674 8944925 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8944925 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1314226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19057675|PMID:23423674|PMID:28492532 8944925 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:1314226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 8944925 Ap1s1 adaptor related protein complex 1 subunit sigma 1 gene DOID:9455 lipid storage disease ISO RGD:1314226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0060043 sexual health disorder ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19295509 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0081182 autosomal recessive intellectual developmental disorder 6 ISO RGD:733691 D RGD:7240710 20180130 OMIM 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:0081182 autosomal recessive intellectual developmental disorder 6 ISO RGD:733691 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 6 PMID:25039795|PMID:25741868|PMID:28492532 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:1059 intellectual disability ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28180184|PMID:34375587 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:12849 autistic disorder ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:34375587 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:12858 Huntington's disease onset ISO RGD:733691 D RGD:9068941 20200609 RGD DNA:repeat: (human) PMID:10522893|REF_RGD_ID:1358638 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:1826 epilepsy ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:34375587 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:303 substance-related disorder ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:3068 glioblastoma ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:3312 bipolar disorder ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18332879 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:5419 schizophrenia ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:630 genetic disease ISO RGD:733691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28180184|PMID:34375587 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2733 D RGD:9068941 20200609 RGD PMID:17639597|REF_RGD_ID:2316528 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9005714 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES ISO RGD:733691 D RGD:7240710 20221221 OMIM 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9005714 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES ISO RGD:733691 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures PMID:25741868|PMID:28180184|PMID:28492532|PMID:34375587 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9007188 Liver Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9008582 Developmental Disease ISO RGD:733691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8944939 Grik2 glutamate ionotropic receptor kainate type subunit 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8944969 Lhx1 LIM homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8944969 Lhx1 LIM homeobox 1 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:732963 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 8944969 Lhx1 LIM homeobox 1 gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:732963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 8944969 Lhx1 LIM homeobox 1 gene DOID:12849 autistic disorder ISO RGD:732963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8944969 Lhx1 LIM homeobox 1 gene DOID:5419 schizophrenia ISO RGD:732963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8944969 Lhx1 LIM homeobox 1 gene DOID:630 genetic disease ISO RGD:732963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8944969 Lhx1 LIM homeobox 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:732963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 8944969 Lhx1 LIM homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8944985 Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:0110238 cataract 18 ISO RGD:1319203 D RGD:7240710 20180130 OMIM 8944985 Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:0110238 cataract 18 ISO RGD:1319203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 18 | ClinVar Annotator: match by term: FYCO1-related condition PMID:11519376|PMID:17576681|PMID:21636066|PMID:25741868|PMID:27878435|PMID:28418495|PMID:28492532|PMID:33767456|PMID:9536098 8944985 Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:630 genetic disease ISO RGD:1319203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8944985 Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:83 cataract ISO RGD:1319203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 8944985 Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1319203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8944985 Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1319203 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 8945020 Prap1 proline rich acidic protein 1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1354045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8945020 Prap1 proline rich acidic protein 1 gene DOID:630 genetic disease ISO RGD:1354045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945037 Gpr75 G protein-coupled receptor 75 gene DOID:630 genetic disease ISO RGD:1343209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945042 Armcx2 armadillo repeat containing X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8945042 Armcx2 armadillo repeat containing X-linked 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1602335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 8945042 Armcx2 armadillo repeat containing X-linked 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1602335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8945042 Armcx2 armadillo repeat containing X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1602335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8945042 Armcx2 armadillo repeat containing X-linked 2 gene DOID:630 genetic disease ISO RGD:1602335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945064 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:735907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Nocturnal frontal lobe epilepsy PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28600779|PMID:29930392|PMID:9536098 8945064 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 ISO RGD:735907 D RGD:7240710 20180130 OMIM 8945064 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 ISO RGD:735907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 PMID:16222669|PMID:16826524|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25770198|PMID:26467025|PMID:28492532|PMID:9536098 8945064 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735907 D RGD:7240710 20220727 OMIM 8945064 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735907 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:9536098 8945064 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:735907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Seizures, benign familial infantile, 6 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28600779|PMID:29930392|PMID:9536098 8945064 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:1059 intellectual disability ISO RGD:735907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8945064 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:1826 epilepsy ISO RGD:735907 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:24950454|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532 8945064 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:1826 epilepsy ISO RGD:735907 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8945064 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:630 genetic disease ISO RGD:735907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29930392|PMID:9536098 8945064 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:9005154 Myoclonic Epilepsies ISO RGD:735907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: myoclonic epilepsy PMID:28492532 8945064 Chrna2 cholinergic receptor nicotinic alpha 2 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735907 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28604730 8945075 Rasgef1a RasGEF domain family member 1A gene DOID:630 genetic disease ISO RGD:1314108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:0060071 pre-malignant neoplasm ISO RGD:1313498 D RGD:9068941 20200609 RGD PMID:12021784|REF_RGD_ID:1599171 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:0110980 Joubert syndrome 1 ISO RGD:1313498 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:11372 megacolon ISO RGD:1313498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:1612 breast cancer ISO RGD:1313498 D RGD:7240710 20180711 OMIM 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:2394 ovarian cancer ISO RGD:1313498 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:3070 high grade glioma ISO RGD:1313498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880341 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:3905 lung carcinoma ISO RGD:1313498 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424|PMID:37378944 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:630 genetic disease ISO RGD:1313498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27479843|PMID:28135719|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9002777 Brain Stem Neoplasms ISO RGD:1313498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880341 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9004839 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD ISO RGD:1313498 D RGD:7240710 20190315 OMIM 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9004839 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD ISO RGD:1313498 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | ClinVar Annotator: match by term: PPM1D-related condition PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:29758562|PMID:30216591|PMID:30388424|PMID:30795918|PMID:31916397|PMID:37378944 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313498 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9008939 Breast Neoplasms ISO RGD:1313498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313498 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424 8945095 Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D gene DOID:9008952 Breast Cancer, Familial ISO RGD:1313498 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424|PMID:37378944 8945104 Mapkapk2 MAPK activated protein kinase 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1606829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8945104 Mapkapk2 MAPK activated protein kinase 2 gene DOID:12849 autistic disorder ISO RGD:1606829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8945104 Mapkapk2 MAPK activated protein kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8945104 Mapkapk2 MAPK activated protein kinase 2 gene DOID:630 genetic disease ISO RGD:1606829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945104 Mapkapk2 MAPK activated protein kinase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1606829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8945104 Mapkapk2 MAPK activated protein kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8945104 Mapkapk2 MAPK activated protein kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8945118 Dusp11 dual specificity phosphatase 11 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315996 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8945118 Dusp11 dual specificity phosphatase 11 gene DOID:543 dystonia ISO RGD:1315996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8945118 Dusp11 dual specificity phosphatase 11 gene DOID:630 genetic disease ISO RGD:1315996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945118 Dusp11 dual specificity phosphatase 11 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8945135 Mapk1 mitogen activated protein kinase 1 gene DOID:8725 vascular dementia treatment ISO RGD:70500 D RGD:9068941 20240323 RGD PMID:24070657|REF_RGD_ID:405096669 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0050700 cardiomyopathy ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10620750 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0050741 alcohol dependence treatment ISO RGD:70500 D RGD:9068941 20240127 RGD PMID:34453945|REF_RGD_ID:401959604 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0050855 renal fibrosis ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:23698112|REF_RGD_ID:7244171 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0050855 renal fibrosis ameliorates ISO RGD:70500 D RGD:9068941 20240229 RGD PMID:21530658|REF_RGD_ID:401976483 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:25405740|REF_RGD_ID:13210782 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0060001 withdrawal disorder ISO RGD:70500 D RGD:9068941 20231216 RGD associated with morphine dependence;protein:increased phosphorylation:prefrontal cortex PMID:23035088|REF_RGD_ID:401938640 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0060001 withdrawal disorder ISO RGD:70500 D RGD:9068941 20240201 RGD associated with heroin dependence;protein:decreased phosphorylation:nucleus accumbens PMID:25711798|REF_RGD_ID:401959753 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0060001 withdrawal disorder ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17549049 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0060001 withdrawal disorder treatment ISO RGD:732503 D RGD:9068941 20240111 RGD associated with morphine dependence PMID:18772347|REF_RGD_ID:401950487 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732503 D RGD:9068941 20220825 MouseDO 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0112161 Noonan syndrome 13 ISO RGD:732502 D RGD:7240710 20201111 OMIM 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:0112161 Noonan syndrome 13 ISO RGD:732502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 13 PMID:25741868|PMID:28492532|PMID:32721402 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:1059 intellectual disability ISO RGD:732502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:32721402 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:732502 D RGD:9068941 20200609 RGD mRNA:increased expression: CA2 field of hippocampus, pyramidal neuron PMID:24334724|REF_RGD_ID:13800868 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:28079060|REF_RGD_ID:13800563 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:10762 portal hypertension ISO RGD:70500 D RGD:9068941 20240222 RGD protein:increased phosphorylation:gastric mucosa PMID:11259371|REF_RGD_ID:401976386 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:10808 gastric ulcer ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:25518106|REF_RGD_ID:13800896 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:12098 trigeminal neuralgia ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:12577 urethral obstruction ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:23698112|REF_RGD_ID:7244171 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:732503 D RGD:9068941 20220825 MouseDO OMIM:192430 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:732502 D RGD:9068941 20240201 RGD protein:decreased phosphorylation:striatum PMID:25583483|REF_RGD_ID:401960857 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:1574 alcohol use disorder ISO RGD:70500 D RGD:9068941 20240125 RGD protein:increased expression:liver PMID:31262967|REF_RGD_ID:401959334 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:1596 depressive disorder ISO RGD:732502 D RGD:9068941 20240215 RGD PMID:21070506|REF_RGD_ID:401966883 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:1612 breast cancer ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:breast PMID:15928662|REF_RGD_ID:2314939 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:1682 congenital heart disease ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of | ClinVar Annotator: match by term: Isolated Nonsyndromic Congenital Heart Disease PMID:25741868|PMID:32721402 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:1682 congenital heart disease ISO RGD:732502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:28492532|PMID:32721402 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:1781 thyroid cancer disease_progression ISO RGD:732502 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:28992617|REF_RGD_ID:13792721 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:1909 melanoma treatment ISO RGD:732502 D RGD:9068941 20240215 RGD PMID:28976960|REF_RGD_ID:151347671 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:219 colon cancer treatment ISO RGD:70500 D RGD:9068941 20240229 RGD PMID:19876598|REF_RGD_ID:401976467 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2316 brain ischemia ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2316 brain ischemia ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:15669185|REF_RGD_ID:1582281 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:234 colon adenocarcinoma ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:24691442|REF_RGD_ID:13210775 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:28492138|REF_RGD_ID:13504818 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:22139534|REF_RGD_ID:13504820 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2560 morphine dependence ISO RGD:70500 D RGD:9068941 20240125 RGD protein:increased phosphorylation:central amygdaloid nucleus PMID:19052216|REF_RGD_ID:401959374 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2560 morphine dependence ISO RGD:70500 D RGD:9068941 20240127 RGD PMID:29024786|REF_RGD_ID:401959607 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2560 morphine dependence treatment ISO RGD:732503 D RGD:9068941 20240111 RGD PMID:18772347|PMID:27461790|PMID:33609567|REF_RGD_ID:401940121|REF_RGD_ID:401940145|REF_RGD_ID:401950487 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:732502 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:endometrium (human) PMID:14760076|REF_RGD_ID:13703137 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2870 endometrial adenocarcinoma treatment ISO RGD:732502 D RGD:9068941 20200609 RGD human tumor in a mouse model PMID:23402905|REF_RGD_ID:13703125 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2871 endometrial carcinoma ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased expression:endometrium (human) PMID:29081408|REF_RGD_ID:13702082 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2871 endometrial carcinoma severity ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased phosphorylation:endometrium (human) PMID:22459351|REF_RGD_ID:13441552 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2921 glomerulonephritis ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:20203158|REF_RGD_ID:7243972 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:3213 demyelinating disease ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:27596241|REF_RGD_ID:13800879 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:70500 D RGD:9068941 20240201 RGD PMID:27152455|PMID:35218623|REF_RGD_ID:13800881|REF_RGD_ID:401960864 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:732502 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:27919956|REF_RGD_ID:13451128 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:4247 coronary restenosis ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15583728|REF_RGD_ID:1582284 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:732503 D RGD:9068941 20220825 MouseDO OMIM:261800 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:732502 D RGD:9068941 20200609 RGD DNA:missense mutation: :multiple PMID:22517515|REF_RGD_ID:13504815 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:28063381|REF_RGD_ID:13800569 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:557 kidney disease ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:15213271|REF_RGD_ID:7243971 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:5844 myocardial infarction ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15653762|REF_RGD_ID:1582282 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:630 genetic disease ISO RGD:732502 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:25907942|REF_RGD_ID:13800893 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:6812 childhood pilocytic astrocytoma ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:21466243|REF_RGD_ID:13702864 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732502 D RGD:9068941 20240215 RGD protein:increased expression:liver PMID:27468214|REF_RGD_ID:401976278 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:809 cocaine abuse ISO RGD:70500 D RGD:9068941 20240125 RGD protein:increased phosphorylation:nucleus accumbens PMID:25522720|REF_RGD_ID:401851063 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:8541 Sezary's disease ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7545087 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9000040 Hypertrophy ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12237323 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:27028006|REF_RGD_ID:13800882 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22247605 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:732503 D RGD:9068941 20200609 RGD associated with prostate adenocarcinoma PMID:22139534|REF_RGD_ID:13504820 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15944243|REF_RGD_ID:13800876 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:27396351|REF_RGD_ID:13800880 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:70500 D RGD:9068941 20200609 RGD protein: increased expression: lung and liver PMID:22392145|REF_RGD_ID:7244173 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:19923143|REF_RGD_ID:7243957 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9002211 Hyperalgesia ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12941468|PMID:27093858 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9002549 Shock treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:29110153|REF_RGD_ID:13800566 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16211241 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9002906 Multiple Organ Failure ISO RGD:70500 D RGD:9068941 20200609 RGD protein: increased expression: lung and liver PMID:22392145|REF_RGD_ID:7244173 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:26619011 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15607907|REF_RGD_ID:1582283 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9004265 Endometrioid Carcinomas treatment ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:24917306|REF_RGD_ID:13441559 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9004484 Sepsis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15489642 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:732502 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34323000 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:70500 D RGD:9068941 20240229 RGD PMID:19298531|REF_RGD_ID:5130755 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:23467982|REF_RGD_ID:13210776 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884234|PMID:12376484 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:29435821|REF_RGD_ID:13800872 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9005396 Intimal Hyperplasia ameliorates ISO RGD:70500 D RGD:9068941 20240229 RGD PMID:23498803|REF_RGD_ID:401976463 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:70500 D RGD:9068941 20240229 RGD PMID:21964194|REF_RGD_ID:401976490 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16407894|PMID:20692647 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:22045654|REF_RGD_ID:7243969 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70500 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:70500 D RGD:9068941 20240127 RGD protein:decreased phosphorylation:hippocampus PMID:36688960|REF_RGD_ID:401959611 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:732503 D RGD:9068941 20240201 RGD PMID:37736695|REF_RGD_ID:401960090 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9006880 Urinary Incontinence ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:22950999|REF_RGD_ID:7244159 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:70500 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:25907942|REF_RGD_ID:13800893 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9007402 Gliosis ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19402951 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9007456 Female Infertility ISO RGD:732502 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9007661 Dwarfism ISO RGD:732502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:32721402 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:15653762|REF_RGD_ID:1582282 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:25345742|REF_RGD_ID:13800900 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9008023 Memory Disorders treatment ISO RGD:70500 D RGD:9068941 20240201 RGD associated with Subarachnoid Hemorrhage PMID:26822402|REF_RGD_ID:401960859 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9008023 Memory Disorders treatment ISO RGD:732503 D RGD:9068941 20240104 RGD PMID:29157831|REF_RGD_ID:401940181 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732502 D RGD:9068941 20200609 RGD PMID:10323886|REF_RGD_ID:13210794 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70500 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreas: PMID:27259299|REF_RGD_ID:13506776 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:70500 D RGD:9068941 20200609 RGD protein:hypophosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732503 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn: PMID:28757391|REF_RGD_ID:13506777 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:70500 D RGD:9068941 20200609 RGD PMID:19164460|REF_RGD_ID:13506786 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:732503 D RGD:9068941 20200609 RGD PMID:26860984|REF_RGD_ID:13506775 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9970 obesity ISO RGD:732502 D RGD:9068941 20200609 RGD protein:increased phosphorylation:endometrium (human) PMID:20074784|REF_RGD_ID:13782055 8945135 Mapk1 mitogen-activated protein kinase 1 gene DOID:9975 cocaine dependence ISO RGD:70500 D RGD:9068941 20240125 RGD protein:increased phosphorylation:brain PMID:23665060|REF_RGD_ID:401851078 8945170 Synj2 synaptojanin 2 gene DOID:630 genetic disease ISO RGD:69494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945170 Synj2 synaptojanin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:69494 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8945201 Klhl3 kelch like family member 3 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant PMID:24033266|PMID:25741868|PMID:28492532 8945201 Klhl3 kelch like family member 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8945201 Klhl3 kelch like family member 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8945201 Klhl3 kelch like family member 3 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1346820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8945201 Klhl3 kelch like family member 3 gene DOID:1969 cerebral palsy ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8945201 Klhl3 kelch like family member 3 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1346820 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:22266938|PMID:22406640|PMID:23387299|PMID:24821705|PMID:25741868|PMID:25925082|PMID:28492532 8945201 Klhl3 kelch like family member 3 gene DOID:630 genetic disease ISO RGD:1346820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24641320|PMID:25741868|PMID:28492532 8945201 Klhl3 kelch like family member 3 gene DOID:9001548 Pseudohypoaldosteronism, Type IID ISO RGD:1346820 D RGD:7240710 20180130 OMIM 8945201 Klhl3 kelch like family member 3 gene DOID:9001548 Pseudohypoaldosteronism, Type IID ISO RGD:1346820 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FAMILIAL HYPERKALEMIC HYPERTENSION | ClinVar Annotator: match by term: KLHL3-related condition PMID:22266938|PMID:22406640|PMID:23387299|PMID:24033266|PMID:24821705|PMID:25741868|PMID:25741906|PMID:25925082|PMID:28492532 8945201 Klhl3 kelch like family member 3 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1346820 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:22266938|PMID:22406640|PMID:23387299|PMID:24821705|PMID:25741868|PMID:25925082|PMID:28492532 8945201 Klhl3 kelch like family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8945201 Klhl3 kelch like family member 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8945233 Slc25a25 solute carrier family 25 member 25 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8945233 Slc25a25 solute carrier family 25 member 25 gene DOID:0060041 autism spectrum disorder ISO RGD:1351086 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8945233 Slc25a25 solute carrier family 25 member 25 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8945233 Slc25a25 solute carrier family 25 member 25 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8945233 Slc25a25 solute carrier family 25 member 25 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8945233 Slc25a25 solute carrier family 25 member 25 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8945233 Slc25a25 solute carrier family 25 member 25 gene DOID:585 nephrolithiasis ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrolithiasis 8945233 Slc25a25 solute carrier family 25 member 25 gene DOID:630 genetic disease ISO RGD:1351086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945233 Slc25a25 solute carrier family 25 member 25 gene DOID:9002189 High Myopia ISO RGD:1351086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:0050753 cerebellar ataxia ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:733366 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:733366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:0081422 familial focal epilepsy with variable foci 2 ISO RGD:733366 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 PMID:25741868 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:0111312 idiopathic generalized epilepsy 11 ISO RGD:733366 D RGD:7240710 20240320 OMIM 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:0111312 idiopathic generalized epilepsy 11 ISO RGD:733366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11 PMID:12612585|PMID:1521363|PMID:15252188|PMID:15505175|PMID:16199547|PMID:16932951|PMID:17567819|PMID:17762171|PMID:19191339|PMID:19200853|PMID:19710712|PMID:19861545|PMID:21703448|PMID:23542698|PMID:23632988|PMID:23707145|PMID:25741868|PMID:25907736|PMID:28488083|PMID:28492532|PMID:29403011|PMID:31589614|PMID:32906206 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:0111546 Currarino syndrome ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:10579 leukodystrophy ISO RGD:736064 D RGD:9068941 20220825 MouseDO 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:1059 intellectual disability ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:17762171|PMID:25741868|PMID:28492532 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:12849 autistic disorder ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:1485 cystic fibrosis ISO RGD:2361 D RGD:9068941 20200609 RGD PMID:8811102|REF_RGD_ID:704390 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:1826 epilepsy ISO RGD:733366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:17762171|PMID:25741868|PMID:28492532 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:1969 cerebral palsy ISO RGD:733366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:19191339|PMID:23632988|PMID:25741868|PMID:28492532 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:3070 high grade glioma ISO RGD:733366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12843258 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:446 primary hyperaldosteronism ISO RGD:733366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29403012 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:446 primary hyperaldosteronism ISO RGD:736064 D RGD:9068941 20220825 MouseDO OMIM:605635 | OMIM:613677 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:630 genetic disease ISO RGD:733366 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:733366 D RGD:7240710 20240320 OMIM 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:9006303 Familial Hyperaldosteronism, Type II ISO RGD:733366 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: FH II | ClinVar Annotator: match by term: Familial hyperaldosteronism type II PMID:1521363|PMID:17762171|PMID:19191339|PMID:19861545|PMID:21703448|PMID:23542698|PMID:23707145|PMID:25741868|PMID:25907736|PMID:28492532|PMID:29403011|PMID:29403012|PMID:31589614|PMID:32906206 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:9008250 Leukoencephalopathy with Ataxia ISO RGD:733366 D RGD:7240710 20240320 OMIM 8945258 Clcn2 chloride voltage-gated channel 2 gene DOID:9008250 Leukoencephalopathy with Ataxia ISO RGD:733366 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with ataxia PMID:12612585|PMID:15252188|PMID:15505175|PMID:16932951|PMID:17567819|PMID:17576681|PMID:17762171|PMID:19191339|PMID:19710712|PMID:21703448|PMID:23632988|PMID:23707145|PMID:25128180|PMID:25741868|PMID:26539602|PMID:28337550|PMID:28492532|PMID:28905383|PMID:31069529|PMID:31589614|PMID:32906206|PMID:36435927|PMID:9536098 8945300 Fbxo24 F-box protein 24 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8945300 Fbxo24 F-box protein 24 gene DOID:630 genetic disease ISO RGD:1312922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945322 Lyst lysosomal trafficking regulator gene DOID:0050117 disease by infectious agent ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent infections 8945322 Lyst lysosomal trafficking regulator gene DOID:0050952 spastic ataxia ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532 8945322 Lyst lysosomal trafficking regulator gene DOID:0081013 severe COVID-19 ISO RGD:1604070 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 8945322 Lyst lysosomal trafficking regulator gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1604070 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 8945322 Lyst lysosomal trafficking regulator gene DOID:13641 exfoliation syndrome ISO RGD:731450 D RGD:9068941 20220825 MouseDO OMIM:177650 8945322 Lyst lysosomal trafficking regulator gene DOID:1540 parathyroid carcinoma ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8945322 Lyst lysosomal trafficking regulator gene DOID:1826 epilepsy ISO RGD:1604070 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8945322 Lyst lysosomal trafficking regulator gene DOID:1891 optic nerve disease ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:25741868|PMID:28492532 8945322 Lyst lysosomal trafficking regulator gene DOID:2213 hemorrhagic disease ISO RGD:1604070 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:11857544|PMID:25741868|PMID:28492532|PMID:32935436|PMID:9215679 8945322 Lyst lysosomal trafficking regulator gene DOID:2223 platelet storage pool deficiency ISO RGD:731450 D RGD:9068941 20220825 MouseDO OMIM:185050 8945322 Lyst lysosomal trafficking regulator gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1604070 D RGD:7240710 20180130 OMIM 8945322 Lyst lysosomal trafficking regulator gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1604070 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition PMID:10482950|PMID:10648412|PMID:11857544|PMID:15896657|PMID:16199547|PMID:17554367|PMID:17576681|PMID:18485661|PMID:19650863|PMID:19763152|PMID:20301751|PMID:20307669|PMID:21878672|PMID:22406018|PMID:22883044|PMID:23436631|PMID:23521865|PMID:24033266|PMID:24072239|PMID:24112114|PMID:25047945|PMID:25312756|PMID:25640679|PMID:25741868|PMID:26193622|PMID:26597256|PMID:26684649|PMID:26915675|PMID:27484032|PMID:27577878|PMID:27669550|PMID:27679996|PMID:27781387|PMID:27872624|PMID:28145517|PMID:28193763|PMID:28458669|PMID:28492532|PMID:28748566|PMID:29482223|PMID:29519750|PMID:29652989|PMID:30383631|PMID:30815890|PMID:30819905|PMID:30899265|PMID:31245861|PMID:31664448|PMID:31906877|PMID:32099069|PMID:32531373|PMID:32542393|PMID:32638196|PMID:33179747|PMID:33217554|PMID:34083498|PMID:36203604|PMID:8717042|PMID:8751863|PMID:8896560|PMID:9215679|PMID:9215680|PMID:9536098 8945322 Lyst lysosomal trafficking regulator gene DOID:630 genetic disease ISO RGD:1604070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11857544|PMID:17576681|PMID:18485661|PMID:25741868|PMID:26684649|PMID:27872624|PMID:28492532|PMID:28748566|PMID:29519750|PMID:30819905|PMID:32099069|PMID:9215679|PMID:9536098 8945322 Lyst lysosomal trafficking regulator gene DOID:9001488 Human Influenza ISO RGD:1604070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26597256 8945322 Lyst lysosomal trafficking regulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8945384 Aspg asparaginase gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1344860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8945384 Aspg asparaginase gene DOID:10211 cholelithiasis ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12902918 8945384 Aspg asparaginase gene DOID:11755 choledocholithiasis ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12902918 8945384 Aspg asparaginase gene DOID:1588 thrombocytopenia ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 8945384 Aspg asparaginase gene DOID:2355 anemia ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 8945384 Aspg asparaginase gene DOID:615 leukopenia ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 8945384 Aspg asparaginase gene DOID:630 genetic disease ISO RGD:1344860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945384 Aspg asparaginase gene DOID:684 hepatocellular carcinoma ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8945384 Aspg asparaginase gene DOID:9000363 Hematuria ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 8945384 Aspg asparaginase gene DOID:9000972 Fever ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 8945384 Aspg asparaginase gene DOID:9007278 Anaphylaxis ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:65671 8945384 Aspg asparaginase gene DOID:9008385 Vomiting ISO RGD:1344860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2187653 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:10591 pre-eclampsia ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:decidua PMID:17845206|REF_RGD_ID:2289846 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:1612 breast cancer ISO RGD:1316400 D RGD:9068941 20200609 RGD DNA:amplification PMID:12160478|REF_RGD_ID:2289857 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15164121|REF_RGD_ID:2289854 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:2870 endometrial adenocarcinoma ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:16112719|REF_RGD_ID:2289850 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:289 endometriosis ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:16112719|REF_RGD_ID:2289850 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:3007 breast ductal carcinoma severity ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12054692|REF_RGD_ID:2298489 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:3008 invasive ductal carcinoma ISO RGD:1316400 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:11742495|REF_RGD_ID:2289858 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:363 uterine cancer ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16842844|REF_RGD_ID:2289849 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:4362 cervical cancer disease_progression ISO RGD:1316400 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:16112176|REF_RGD_ID:2289851 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1316401 D RGD:9068941 20200609 RGD PMID:15867365|REF_RGD_ID:2289852 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:630 genetic disease ISO RGD:1316400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316400 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:breast PMID:12054692|PMID:17187007|REF_RGD_ID:2289847|REF_RGD_ID:2298489 8945418 Ebag9 estrogen receptor binding site associated antigen 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316400 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasm;protein:increased expression:prostate gland, lymph node PMID:12845666|REF_RGD_ID:2289856 8945436 Reep2 receptor accessory protein 2 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1346917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8945436 Reep2 receptor accessory protein 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346917 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8945436 Reep2 receptor accessory protein 2 gene DOID:0110817 hereditary spastic paraplegia 72A ISO RGD:1346917 D RGD:7240710 20180130 OMIM 8945436 Reep2 receptor accessory protein 2 gene DOID:0110817 hereditary spastic paraplegia 72A ISO RGD:1346917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72B, autosomal recessive PMID:17576681|PMID:24388663|PMID:24482476|PMID:25741868|PMID:28491902|PMID:28492532|PMID:33526816|PMID:9536098 8945436 Reep2 receptor accessory protein 2 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1346917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8945436 Reep2 receptor accessory protein 2 gene DOID:630 genetic disease ISO RGD:1346917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8945436 Reep2 receptor accessory protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8945436 Reep2 receptor accessory protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346917 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8945454 Wbp1 WW domain binding protein 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1312705 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8945454 Wbp1 WW domain binding protein 1 gene DOID:543 dystonia ISO RGD:1312705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8945454 Wbp1 WW domain binding protein 1 gene DOID:630 genetic disease ISO RGD:1312705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945454 Wbp1 WW domain binding protein 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8945466 Ddn dendrin gene DOID:630 genetic disease ISO RGD:1345220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945473 Il17ra interleukin 17 receptor A gene DOID:0111996 immunodeficiency 51 ISO RGD:1315246 D RGD:7240710 20180130 OMIM 8945473 Il17ra interleukin 17 receptor A gene DOID:0111996 immunodeficiency 51 ISO RGD:1315246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51 PMID:16199547|PMID:17576681|PMID:21350122|PMID:24033266|PMID:24552284|PMID:24552285|PMID:25741868|PMID:26607704|PMID:26871944|PMID:27930337|PMID:28492532|PMID:9536098 8945473 Il17ra interleukin 17 receptor A gene DOID:10533 viral pneumonia ISO RGD:1315246 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8945473 Il17ra interleukin 17 receptor A gene DOID:2058 chronic mucocutaneous candidiasis ISO RGD:1315246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Candidiasis, Recessive PMID:24033266|PMID:25741868|PMID:28492532 8945473 Il17ra interleukin 17 receptor A gene DOID:2316 brain ischemia ISO RGD:1315246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 8945473 Il17ra interleukin 17 receptor A gene DOID:630 genetic disease ISO RGD:1315246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8945473 Il17ra interleukin 17 receptor A gene DOID:841 extrinsic allergic alveolitis ISO RGD:1315247 D RGD:9068941 20200609 RGD PMID:19414809|REF_RGD_ID:5144217 8945473 Il17ra interleukin 17 receptor A gene DOID:8893 psoriasis ISO RGD:1315246 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Psoriasis 8945473 Il17ra interleukin 17 receptor A gene DOID:9001488 Human Influenza ISO RGD:1315247 D RGD:9068941 20200609 RGD PMID:19783685|REF_RGD_ID:4889102 8945473 Il17ra interleukin 17 receptor A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1306559 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 8945473 Il17ra interleukin 17 receptor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8945473 Il17ra interleukin 17 receptor A gene DOID:9005372 Inflammation ISO RGD:1315246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29724254 8945473 Il17ra interleukin 17 receptor A gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315246 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8945473 Il17ra interleukin 17 receptor A gene DOID:9675 pulmonary emphysema ISO RGD:1315247 D RGD:9068941 20200609 RGD PMID:21647421|REF_RGD_ID:5144212 8945498 Pigc phosphatidylinositol glycan anchor biosynthesis class C gene DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ISO RGD:1322738 D RGD:7240710 20190315 OMIM 8945498 Pigc phosphatidylinositol glycan anchor biosynthesis class C gene DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 ISO RGD:1322738 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 PMID:25741868|PMID:25741900|PMID:27694521|PMID:28492532 8945498 Pigc phosphatidylinositol glycan anchor biosynthesis class C gene DOID:1540 parathyroid carcinoma ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8945498 Pigc phosphatidylinositol glycan anchor biosynthesis class C gene DOID:630 genetic disease ISO RGD:1322738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8945498 Pigc phosphatidylinositol glycan anchor biosynthesis class C gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8945498 Pigc phosphatidylinositol glycan anchor biosynthesis class C gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8945498 Pigc phosphatidylinositol glycan anchor biosynthesis class C gene DOID:9008086 Developmental Disabilities ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741900 8945498 Pigc phosphatidylinositol glycan anchor biosynthesis class C gene DOID:9008386 Hydrops Fetalis ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 8945498 Pigc phosphatidylinositol glycan anchor biosynthesis class C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322738 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8945508 Pigk phosphatidylinositol glycan anchor biosynthesis class K gene DOID:630 genetic disease ISO RGD:1315550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945508 Pigk phosphatidylinositol glycan anchor biosynthesis class K gene DOID:9001146 Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures ISO RGD:1315550 D RGD:7240710 20200715 OMIM 8945508 Pigk phosphatidylinositol glycan anchor biosynthesis class K gene DOID:9001146 Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures ISO RGD:1315550 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures PMID:25741868|PMID:32220290|PMID:33392778 8945522 Zfyve1 zinc finger FYVE-type containing 1 gene DOID:1059 intellectual disability ISO RGD:1317194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8945522 Zfyve1 zinc finger FYVE-type containing 1 gene DOID:630 genetic disease ISO RGD:1317194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945552 Cnr1 cannabinoid receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18705688 8945552 Cnr1 cannabinoid receptor 1 gene DOID:0080855 Parkinsonism ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19414037|REF_RGD_ID:2314672 8945552 Cnr1 cannabinoid receptor 1 gene DOID:10603 glucose intolerance ISO RGD:735525 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:26563389 8945552 Cnr1 cannabinoid receptor 1 gene DOID:10763 hypertension ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19133994|REF_RGD_ID:2314680 8945552 Cnr1 cannabinoid receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22034972 8945552 Cnr1 cannabinoid receptor 1 gene DOID:12858 Huntington's disease ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20929960 8945552 Cnr1 cannabinoid receptor 1 gene DOID:13580 cholestasis ISO RGD:735525 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:26884397 8945552 Cnr1 cannabinoid receptor 1 gene DOID:1561 cognitive disorder ISO RGD:735525 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 8945552 Cnr1 cannabinoid receptor 1 gene DOID:1574 alcohol use disorder sexual_dimorphism ISO RGD:2369 D RGD:9068941 20240201 RGD associated with chronic stress in female rats PMID:27894930|REF_RGD_ID:401959751 8945552 Cnr1 cannabinoid receptor 1 gene DOID:1793 pancreatic cancer ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16818650 8945552 Cnr1 cannabinoid receptor 1 gene DOID:1824 status epilepticus ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19368833|REF_RGD_ID:2314675 8945552 Cnr1 cannabinoid receptor 1 gene DOID:1824 status epilepticus ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19368833 8945552 Cnr1 cannabinoid receptor 1 gene DOID:1875 impotence ISO RGD:2369 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17850365|REF_RGD_ID:2314634 8945552 Cnr1 cannabinoid receptor 1 gene DOID:2030 anxiety disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15081793|PMID:18690112 8945552 Cnr1 cannabinoid receptor 1 gene DOID:2055 post-traumatic stress disorder ISO RGD:735525 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34262461 8945552 Cnr1 cannabinoid receptor 1 gene DOID:2234 focal epilepsy ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19595742|REF_RGD_ID:2314658 8945552 Cnr1 cannabinoid receptor 1 gene DOID:2377 multiple sclerosis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12876144 8945552 Cnr1 cannabinoid receptor 1 gene DOID:2560 morphine dependence treatment ISO RGD:10370 D RGD:9068941 20231230 RGD PMID:27461790|REF_RGD_ID:401940145 8945552 Cnr1 cannabinoid receptor 1 gene DOID:289 endometriosis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8945552 Cnr1 cannabinoid receptor 1 gene DOID:303 substance-related disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18690112|PMID:21513772|PMID:9888857 8945552 Cnr1 cannabinoid receptor 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19509271 8945552 Cnr1 cannabinoid receptor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20498848 8945552 Cnr1 cannabinoid receptor 1 gene DOID:418 systemic scleroderma ISO RGD:735525 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27228633 8945552 Cnr1 cannabinoid receptor 1 gene DOID:480 movement disease ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10802025 8945552 Cnr1 cannabinoid receptor 1 gene DOID:4989 pancreatitis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17484889 8945552 Cnr1 cannabinoid receptor 1 gene DOID:5082 liver cirrhosis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11433348|PMID:21863215 8945552 Cnr1 cannabinoid receptor 1 gene DOID:5419 schizophrenia ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21513772 8945552 Cnr1 cannabinoid receptor 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:735525 D RGD:9068941 20200814 RGD PMID:11803524|PMID:15613777|REF_RGD_ID:1358449|REF_RGD_ID:1626328 8945552 Cnr1 cannabinoid receptor 1 gene DOID:5419 schizophrenia treatment ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19854030|REF_RGD_ID:2314639 8945552 Cnr1 cannabinoid receptor 1 gene DOID:630 genetic disease ISO RGD:735525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945552 Cnr1 cannabinoid receptor 1 gene DOID:750 peptic ulcer disease ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19827302|REF_RGD_ID:2314640 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:18930143|REF_RGD_ID:2316199 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9000641 Pain ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19661434|REF_RGD_ID:2314649 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9000641 Pain ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19193902 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9000972 Fever ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19681872|REF_RGD_ID:2314645 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9001129 Alcohol Withdrawal Delirium ISO RGD:735525 D RGD:9068941 20200609 RGD PMID:11841893|REF_RGD_ID:1626329 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:2369 D RGD:9068941 20240201 RGD PMID:27894930|REF_RGD_ID:401959751 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043671 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2369 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta, mesenteric artery PMID:19493421|REF_RGD_ID:2314664 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9001981 Weight Loss ISO RGD:735525 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31570772|PMID:32365865 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17572696 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9002395 Hypothermia ISO RGD:735525 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27149200|PMID:27535976|PMID:31877572|PMID:9888857 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9002955 Nerve Degeneration ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:18313855|REF_RGD_ID:10059347 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9002955 Nerve Degeneration ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11517236|PMID:24211273 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9003805 Catalepsy ISO RGD:735525 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10318961|PMID:27149200|PMID:27535976|PMID:31877572 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19372445|REF_RGD_ID:2314674 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9004657 Weight Gain ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20107430 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16314880|PMID:17596442|PMID:19052543 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2369 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus, striatum PMID:18401837|REF_RGD_ID:2314633 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9006024 Hypotension ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19295473|REF_RGD_ID:2314676 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9006024 Hypotension ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9888857 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9006095 Ascites ISO RGD:2369 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:19208344|REF_RGD_ID:2314678 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23072421 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9007428 Muscle Spasticity ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17220914 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9007692 Insulin Resistance ISO RGD:2369 D RGD:9068941 20200609 RGD associated with Obesity PMID:19553924|REF_RGD_ID:2314662 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:735525 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29805589|PMID:32751388 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:18771032|REF_RGD_ID:2316217 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9008023 Memory Disorders ISO RGD:735525 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29294249 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9008753 Intravenous Substance Abuse ISO RGD:735525 D RGD:9068941 20200609 RGD PMID:9106242|REF_RGD_ID:1358448 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9008953 Binge-Eating Disorder ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23072421 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735525 D RGD:9068941 20200609 RGD PMID:18678611|REF_RGD_ID:2314632 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9505 cannabis abuse ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19016476 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9743 diabetic neuropathy ISO RGD:2369 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18810243|REF_RGD_ID:2314631 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9923 developmental coordination disorder ISO RGD:735525 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:26460022 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:10370 D RGD:9068941 20200609 RGD PMID:19530697|REF_RGD_ID:2314629 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:2369 D RGD:9068941 20200609 RGD PMID:19325539|REF_RGD_ID:2314630 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:2369 D RGD:9068941 20231012 RGD DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus PMID:31258545|REF_RGD_ID:401827956 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:735525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18722357 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:735525 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:3813A>G (human) PMID:17405839|REF_RGD_ID:1626325 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9970 obesity ISO RGD:735525 D RGD:9068941 20231012 RGD DNA:hypermethylation:promoter, peripheral blood mononuclear cell PMID:31258545|REF_RGD_ID:401827956 8945552 Cnr1 cannabinoid receptor 1 gene DOID:9970 obesity no_association ISO RGD:735525 D RGD:9068941 20200609 RGD DNA:polymorphism: :1256C>A, 1419+1G>C (human) PMID:17292652|REF_RGD_ID:1626326 8945561 Nkd2 NKD inhibitor of WNT signaling pathway 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1322930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 8945561 Nkd2 NKD inhibitor of WNT signaling pathway 2 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1322930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 8945561 Nkd2 NKD inhibitor of WNT signaling pathway 2 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1322930 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 8945561 Nkd2 NKD inhibitor of WNT signaling pathway 2 gene DOID:630 genetic disease ISO RGD:1322930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945576 LOC102004170 olfactory receptor 6B1 gene DOID:630 genetic disease ISO RGD:1351550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945581 Marchf10 membrane associated ring-CH-type finger 10 gene DOID:630 genetic disease ISO RGD:1601818 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945650 Accs 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) gene DOID:0080600 COVID-19 ISO RGD:1606762 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8945650 Accs 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) gene DOID:1059 intellectual disability ISO RGD:1606762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8945650 Accs 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) gene DOID:630 genetic disease ISO RGD:1606762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945663 Pcp4l1 Purkinje cell protein 4 like 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1602138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8945663 Pcp4l1 Purkinje cell protein 4 like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8945663 Pcp4l1 Purkinje cell protein 4 like 1 gene DOID:630 genetic disease ISO RGD:1602138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945663 Pcp4l1 Purkinje cell protein 4 like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8945673 Atg16l1 autophagy related 16 like 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:1321647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192919 8945673 Atg16l1 autophagy related 16 like 1 gene DOID:0060476 Perlman syndrome ISO RGD:1321647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8945673 Atg16l1 autophagy related 16 like 1 gene DOID:0060478 Zika fever ISO RGD:1321647 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28694387 8945673 Atg16l1 autophagy related 16 like 1 gene DOID:0110885 inflammatory bowel disease 10 ISO RGD:1321647 D RGD:7240710 20180130 OMIM 8945673 Atg16l1 autophagy related 16 like 1 gene DOID:0110885 inflammatory bowel disease 10 ISO RGD:1321647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 10, susceptibility to PMID:17200669|PMID:17435756|PMID:18438405|PMID:18852889|PMID:19337756|PMID:24553140|PMID:27273576 8945673 Atg16l1 autophagy related 16 like 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1321647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8945673 Atg16l1 autophagy related 16 like 1 gene DOID:630 genetic disease ISO RGD:1321647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945673 Atg16l1 autophagy related 16 like 1 gene DOID:8778 Crohn's disease ISO RGD:1321647 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435756|PMID:18438406 8945673 Atg16l1 autophagy related 16 like 1 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1553543 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 8945673 Atg16l1 autophagy related 16 like 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1310631 D RGD:9068941 20200609 RGD PMID:24998254|REF_RGD_ID:11561938 8945699 Entpd6 ectonucleoside triphosphate diphosphohydrolase 6 gene DOID:4440 seminoma ISO RGD:1345865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21519793 8945699 Entpd6 ectonucleoside triphosphate diphosphohydrolase 6 gene DOID:630 genetic disease ISO RGD:1345865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945699 Entpd6 ectonucleoside triphosphate diphosphohydrolase 6 gene DOID:9970 obesity ISO RGD:1345865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:0050888 syndromic intellectual disability ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:32220291 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:732582 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:0110266 cataract 9 multiple types ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:10907 microcephaly ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:11612 polycystic ovary syndrome ISO RGD:732582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:11832 visual epilepsy ISO RGD:10082 D RGD:9068941 20200609 RGD PMID:10894545|REF_RGD_ID:1300255 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:12849 autistic disorder ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:224 transient cerebral ischemia ISO RGD:2033 D RGD:9068941 20200609 RGD PMID:16504947|REF_RGD_ID:10755337 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:10082 D RGD:9068941 20220825 MouseDO 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732582 D RGD:9068941 20200609 RGD PMID:20372915|REF_RGD_ID:10755336 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732582 D RGD:9068941 20200609 RGD mRNA:decreased expression:motor neuron: PMID:22226999|REF_RGD_ID:13432092 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:630 genetic disease ISO RGD:732582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732582 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2033 D RGD:9068941 20200609 RGD PMID:20456005|REF_RGD_ID:10755338 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:9008601 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures ISO RGD:732582 D RGD:7240710 20200617 OMIM 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:9008601 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures ISO RGD:732582 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures PMID:25741868|PMID:32220291|PMID:32719099 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:9263 homocystinuria ISO RGD:732582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732582 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8945726 Adarb1 adenosine deaminase RNA specific B1 gene DOID:9970 obesity ISO RGD:2033 D RGD:9068941 20200609 RGD associated with Hyperphagia PMID:17567573|REF_RGD_ID:10450894 8945752 Ctso cathepsin O gene DOID:630 genetic disease ISO RGD:1343138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945787 Mrps18b mitochondrial ribosomal protein S18B gene DOID:11372 megacolon ISO RGD:1349132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8945787 Mrps18b mitochondrial ribosomal protein S18B gene DOID:630 genetic disease ISO RGD:1349132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945787 Mrps18b mitochondrial ribosomal protein S18B gene DOID:9000217 Stomach Neoplasms ISO RGD:1349132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8945787 Mrps18b mitochondrial ribosomal protein S18B gene DOID:9000918 Disease Progression ISO RGD:1349132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial tortuosity PMID:25741868 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:0050827 rheumatic heart disease ISO RGD:621676 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1616012 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:0080685 aortic dissection ISO RGD:1348351 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Descending aortic dissection PMID:25741868 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:0080685 aortic dissection ameliorates ISO RGD:1616012 D RGD:9068941 20230223 RGD Apolipoprotein E knockout PMID:33403385|REF_RGD_ID:156420156 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:11664 nephrosclerosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:13099 Moyamoya disease ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Moyamoya disease | ClinVar Annotator: match by term: Moyamoya syndrome PMID:25741868|PMID:28492532 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493835 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:1324 lung cancer ISO RGD:1348351 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: LUNG CANCER, SUSCEPTIBILITY TO PMID:15937082|PMID:25741868 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:13619 extrahepatic cholestasis ISO RGD:1348351 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:31932644 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20689142|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28492532|PMID:28659821|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29907982|PMID:9536098 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20689142|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28074886|PMID:28492532|PMID:28659821|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29907982|PMID:9536098 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29907982|PMID:31911919|PMID:9536098 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25557781|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:27879251|PMID:28074886|PMID:28166811|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29300374|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30341550|PMID:31911919|PMID:36053285|PMID:9536098 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25557781|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27146836|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:27879251|PMID:28074886|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29202781|PMID:29300374|PMID:29543232|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30341550|PMID:31911919|PMID:32093627|PMID:34422331|PMID:36053285|PMID:9536098 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:13129918|PMID:15138499|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25557781|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27146836|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:27879251|PMID:28074886|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29202781|PMID:29300374|PMID:29543232|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30341550|PMID:31911919|PMID:32093627|PMID:34422331|PMID:36053285|PMID:9536098 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:14004 thoracic aortic aneurysm ISO RGD:1348351 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:16199547|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22753406|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23142374|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25557781|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27146836|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:27879251|PMID:28074886|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29202781|PMID:29300374|PMID:29543232|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30341550|PMID:31731876|PMID:31911919|PMID:32093627|PMID:32464348|PMID:32544455|PMID:33824467|PMID:34422331|PMID:35754816|PMID:36053285|PMID:36440024|PMID:646322|PMID:9536098 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:289 endometriosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:326 ischemia ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:3770 pulmonary fibrosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30639579 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:409 liver disease ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11738102 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:418 systemic scleroderma ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24706986 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:4977 lymphedema ISO RGD:1348351 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue: PMID:21510802|REF_RGD_ID:12879442 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:5082 liver cirrhosis ISO RGD:1348351 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:24239723|PMID:24321339|PMID:30097701|PMID:32659284 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:5199 ureteral obstruction ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:520 aortic disease ISO RGD:1348351 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:19409525|PMID:20734336|PMID:21212136|PMID:21248741|PMID:21733706|PMID:21937134|PMID:22752479|PMID:22946110|PMID:23613326|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25644172|PMID:25741868|PMID:25759435|PMID:26034244|PMID:26153420|PMID:27481187|PMID:27567161|PMID:27611364|PMID:28492532|PMID:29300374|PMID:29907982 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:557 kidney disease ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19913069|PMID:31697999 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:5844 myocardial infarction ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:630 genetic disease ISO RGD:1348351 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10875918|PMID:16199547|PMID:18948840|PMID:22237435|PMID:25741868|PMID:28492532|PMID:31131953 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:65 connective tissue disease ISO RGD:1348351 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:19409525|PMID:20734336|PMID:20970362|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23253043|PMID:23613326|PMID:24033266|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:28492532|PMID:28652363|PMID:29300374|PMID:31911919|PMID:36053285 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1348351 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:16199547|PMID:18948840|PMID:22237435|PMID:28492532|PMID:31131953 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9000784 Fibrosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31697999 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9001444 Moyamoya Disease 5 ISO RGD:1348351 D RGD:7240710 20180130 OMIM 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9001444 Moyamoya Disease 5 ISO RGD:1348351 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Moyamoya disease 5 PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:20734336|PMID:20970362|PMID:21248741|PMID:21288906|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22753406|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23142374|PMID:23253043|PMID:23613326|PMID:24033266|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27611364|PMID:28492532|PMID:28652363|PMID:28659821|PMID:29300374|PMID:30341550|PMID:31911919|PMID:32464348|PMID:36053285|PMID:36440024|PMID:646322|PMID:9536098 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1348351 D RGD:7240710 20180130 OMIM 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1348351 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:16199547|PMID:17576681|PMID:17994018|PMID:19409525|PMID:19639654|PMID:20734336|PMID:20970362|PMID:21212136|PMID:21248741|PMID:21288906|PMID:21733706|PMID:21937134|PMID:22001912|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22753406|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23041370|PMID:23099432|PMID:23142374|PMID:23253043|PMID:23613326|PMID:24020716|PMID:24033266|PMID:24243736|PMID:24293535|PMID:24621862|PMID:24793577|PMID:24998021|PMID:25326635|PMID:25504618|PMID:25644172|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26153420|PMID:26188975|PMID:26637293|PMID:27146836|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27567161|PMID:27611364|PMID:28074886|PMID:28492532|PMID:28652363|PMID:28659821|PMID:28848449|PMID:28855619|PMID:29202781|PMID:29300374|PMID:29543232|PMID:29687370|PMID:29867215|PMID:29907982|PMID:30056620|PMID:30341550|PMID:30975232|PMID:31731876|PMID:31911919|PMID:32093627|PMID:32464348|PMID:32544455|PMID:33824467|PMID:34422331|PMID:35567597|PMID:35754816|PMID:36053285|PMID:36440024|PMID:646322|PMID:9536098 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26435214|PMID:26739621 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621676 D RGD:9068941 20220520 RGD associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat) PMID:29323718|REF_RGD_ID:38599216 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9002231 Fetal Growth Retardation ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9002928 Colonic Neoplasms ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9006182 Carotid Artery Injuries ISO RGD:1616012 D RGD:9068941 20230427 RGD protein:decreased expression:vascular smooth muscle cell carotid artery (mouse) PMID:25751394|REF_RGD_ID:329328927 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20570839 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome ISO RGD:1348351 D RGD:7240710 20180130 OMIM 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome ISO RGD:1348351 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome | ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME PMID:10532176|PMID:13129918|PMID:14730227|PMID:15138499|PMID:15472996|PMID:17576681|PMID:17994018|PMID:19409525|PMID:20734336|PMID:20970362|PMID:21248741|PMID:21288906|PMID:22302747|PMID:22543189|PMID:22752479|PMID:22790431|PMID:22831780|PMID:22946110|PMID:23099432|PMID:23253043|PMID:23613326|PMID:24033266|PMID:24293535|PMID:24621862|PMID:24998021|PMID:25326635|PMID:25741868|PMID:25759435|PMID:25944730|PMID:26034244|PMID:26637293|PMID:27176728|PMID:27481187|PMID:27549731|PMID:27551047|PMID:27567161|PMID:28492532|PMID:28652363|PMID:28659821|PMID:29300374|PMID:31911919|PMID:36053285|PMID:646322|PMID:9536098 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9008510 Chronic Hepatitis ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1348351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:25741868|PMID:28492532 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9008691 Liver Injury ISO RGD:621676 D RGD:9068941 20200609 RGD protein:increased expression:hepatic stellate cell:: PMID:24204762|REF_RGD_ID:12879446 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9008939 Breast Neoplasms ISO RGD:1348351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 8945811 Acta2 actin alpha 2, smooth muscle gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:1348351 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:17994018|PMID:19409525|PMID:19639654|PMID:21212136|PMID:21248741|PMID:24020716|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1352340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:25741868|PMID:28492532 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:1059 intellectual disability ISO RGD:1352340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:1856 cherubism ISO RGD:1352340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:3070 high grade glioma ISO RGD:1352340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1352340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1352340 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23392203 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9001308 Wittwer Syndrome ISO RGD:1352340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:25741868|PMID:28492532 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1352340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9007578 LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT ISO RGD:1352340 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: LETM1-associated clinical spectrum with predominant nervous system involvement PMID:25741868|PMID:36055214 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9007987 NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION ISO RGD:1352340 D RGD:7240710 20221214 OMIM 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9007987 NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION ISO RGD:1352340 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction PMID:25741868|PMID:36055214 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352340 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36055214 8945824 Letm1 leucine zipper and EF-hand containing transmembrane protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706454 8945846 Elovl3 ELOVL fatty acid elongase 3 gene DOID:630 genetic disease ISO RGD:1316352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945854 Pard3 par-3 family cell polarity regulator gene DOID:0060041 autism spectrum disorder ISO RGD:731593 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8945854 Pard3 par-3 family cell polarity regulator gene DOID:0080074 neural tube defect ISO RGD:731593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:27925688 8945854 Pard3 par-3 family cell polarity regulator gene DOID:10283 prostate cancer ISO RGD:731593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8945854 Pard3 par-3 family cell polarity regulator gene DOID:5426 primary ovarian insufficiency ISO RGD:731593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8945854 Pard3 par-3 family cell polarity regulator gene DOID:630 genetic disease ISO RGD:731593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945854 Pard3 par-3 family cell polarity regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:731593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 8945916 Rapsn receptor associated protein of the synapse gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1314835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8945916 Rapsn receptor associated protein of the synapse gene DOID:0080000 muscular disease ISO RGD:1314835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9668287 8945916 Rapsn receptor associated protein of the synapse gene DOID:0110675 congenital myasthenic syndrome 11 ISO RGD:1314835 D RGD:7240710 20180829 OMIM 8945916 Rapsn receptor associated protein of the synapse gene DOID:0110675 congenital myasthenic syndrome 11 ISO RGD:1314835 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 11 PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223|PMID:31216405|PMID:32070632|PMID:32528171|PMID:34106991|PMID:35982159|PMID:35982160 8945916 Rapsn receptor associated protein of the synapse gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16945936|PMID:17190963|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223 8945916 Rapsn receptor associated protein of the synapse gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1314835 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:11791205|PMID:12651869|PMID:15145336|PMID:15282317|PMID:17686188|PMID:19620612|PMID:22326364|PMID:2245297|PMID:25741868|PMID:28492532 8945916 Rapsn receptor associated protein of the synapse gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:21520333|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:27966543|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:29478601|PMID:30124556|PMID:30266223|PMID:31680123|PMID:32070632|PMID:33502061|PMID:9536098 8945916 Rapsn receptor associated protein of the synapse gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1314835 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: RAPSN-Related Disorders PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16770791|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:21520333|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:27966543|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:29478601|PMID:30124556|PMID:30266093|PMID:30266223|PMID:31127727|PMID:31216405|PMID:31680123|PMID:31965297|PMID:32070632|PMID:32528171|PMID:33255631|PMID:33502061|PMID:34106991|PMID:34218205|PMID:34565654|PMID:35982159|PMID:35982160|PMID:36307859|PMID:9536098 8945916 Rapsn receptor associated protein of the synapse gene DOID:0111378 fetal akinesia deformation sequence syndrome 2 ISO RGD:1314835 D RGD:7240710 20190501 OMIM 8945916 Rapsn receptor associated protein of the synapse gene DOID:0111378 fetal akinesia deformation sequence syndrome 2 ISO RGD:1314835 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16770791|PMID:16931511|PMID:16945936|PMID:17190963|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:18252226|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:21520333|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:25741902|PMID:26147564|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:28495245|PMID:29053879|PMID:29054425|PMID:29189923|PMID:29478601|PMID:30124556|PMID:30266223|PMID:31127727|PMID:31216405|PMID:31680123|PMID:32070632|PMID:32528171|PMID:33255631|PMID:34106991|PMID:34218205|PMID:34302381|PMID:34565654|PMID:35982159|PMID:35982160|PMID:36307859 8945916 Rapsn receptor associated protein of the synapse gene DOID:1059 intellectual disability ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8945916 Rapsn receptor associated protein of the synapse gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8945916 Rapsn receptor associated protein of the synapse gene DOID:3635 congenital myasthenic syndrome ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15145336|PMID:15282317|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16199547|PMID:16945936|PMID:17190963|PMID:17576681|PMID:17594401|PMID:17686188|PMID:17878953|PMID:18179903|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22326364|PMID:2245297|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223|PMID:31680123|PMID:31965297|PMID:33502061|PMID:9536098 8945916 Rapsn receptor associated protein of the synapse gene DOID:417 autoimmune disease ISO RGD:1314835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9668287 8945916 Rapsn receptor associated protein of the synapse gene DOID:423 myopathy ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16931511|PMID:16945936|PMID:17190963|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223|PMID:32070632|PMID:32528171|PMID:34106991 8945916 Rapsn receptor associated protein of the synapse gene DOID:630 genetic disease ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11791205|PMID:12651869|PMID:12730725|PMID:12796535|PMID:12807980|PMID:12929188|PMID:14504330|PMID:14659409|PMID:14729848|PMID:15036330|PMID:15286164|PMID:15328566|PMID:15482960|PMID:16945936|PMID:17190963|PMID:19620612|PMID:20157724|PMID:20301347|PMID:20562457|PMID:20930056|PMID:21228398|PMID:21305573|PMID:22678886|PMID:24033266|PMID:24319099|PMID:25194721|PMID:25264167|PMID:25741868|PMID:26467025|PMID:26782015|PMID:26910802|PMID:26927095|PMID:28492532|PMID:29053879|PMID:29054425|PMID:29189923|PMID:30124556|PMID:30266223 8945916 Rapsn receptor associated protein of the synapse gene DOID:9008086 Developmental Disabilities ISO RGD:1314835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16931511|PMID:17686188|PMID:25741868|PMID:25741902|PMID:26467025|PMID:28492532 8945916 Rapsn receptor associated protein of the synapse gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:1311592 D RGD:9068941 20200609 RGD protein:decreased expression:neuromuscular junction PMID:19344765|REF_RGD_ID:8549750 8945916 Rapsn receptor associated protein of the synapse gene DOID:9008386 Hydrops Fetalis ISO RGD:1314835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:10449659|PMID:25741868|PMID:31680349 8945916 Rapsn receptor associated protein of the synapse gene DOID:9008585 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency ISO RGD:1314835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8945929 Gng4 G protein subunit gamma 4 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1353997 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 8945929 Gng4 G protein subunit gamma 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1353997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8945929 Gng4 G protein subunit gamma 4 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28492532 8945929 Gng4 G protein subunit gamma 4 gene DOID:630 genetic disease ISO RGD:1353997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8945929 Gng4 G protein subunit gamma 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1317498 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0080820 occupational asthma ISO RGD:1317498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25918132 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0081203 autosomal recessive intellectual developmental disorder 38 ISO RGD:1317498 D RGD:7240710 20180130 OMIM 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0081203 autosomal recessive intellectual developmental disorder 38 ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 38 PMID:23065719|PMID:23243086|PMID:24033266|PMID:25741868|PMID:28492532 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868|PMID:30755392 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:1059 intellectual disability ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:11983 Prader-Willi syndrome ISO RGD:1317498 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:28492532|PMID:28631899 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:12849 autistic disorder ISO RGD:1317498 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:1932 Angelman syndrome ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:5419 schizophrenia ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:543 dystonia ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25741868|PMID:30755392 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18442486|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30755392 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:8577 ulcerative colitis ISO RGD:1317498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1317498 D RGD:7240710 20180130 OMIM 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 ISO RGD:1317498 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES PMID:17236130|PMID:17952075|PMID:18172690|PMID:18252221|PMID:18252222|PMID:22234890|PMID:25741868|PMID:28492532 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9000884 Rhabdomyolysis ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:25741868|PMID:30755392 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:30755392 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9008173 Paraparesis ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paraparesis PMID:25741868 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9008675 Dyskinesias ISO RGD:1317498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Involuntary movements PMID:25741868|PMID:30755392 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1317498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:16397024|PMID:23220880 8945937 Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 gene DOID:9009060 Childhood Absence Epilepsy 1 ISO RGD:1317498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 PMID:26068938|PMID:28492532 8946047 LOC102023166 cytochrome P450 26B1 gene DOID:0060041 autism spectrum disorder ISO RGD:736189 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8946047 LOC102023166 cytochrome P450 26B1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:736189 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8946047 LOC102023166 cytochrome P450 26B1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 8946047 LOC102023166 cytochrome P450 26B1 gene DOID:403 mouth disease ISO RGD:736189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 8946047 LOC102023166 cytochrome P450 26B1 gene DOID:543 dystonia ISO RGD:736189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8946047 LOC102023166 cytochrome P450 26B1 gene DOID:630 genetic disease ISO RGD:736189 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8946047 LOC102023166 cytochrome P450 26B1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:736189 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8946047 LOC102023166 cytochrome P450 26B1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:736189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8946047 LOC102023166 cytochrome P450 26B1 gene DOID:9000725 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies ISO RGD:736189 D RGD:7240710 20180130 OMIM 8946047 LOC102023166 cytochrome P450 26B1 gene DOID:9000725 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies ISO RGD:736189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radiohumeral fusions with other skeletal and craniofacial anomalies PMID:22019272|PMID:25741868 8946047 LOC102023166 cytochrome P450 26B1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:736189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 8946047 LOC102023166 cytochrome P450 26B1 gene DOID:9970 obesity ISO RGD:736189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8946061 Spmip5 sperm microtubule inner protein 5 gene DOID:303 substance-related disorder ISO RGD:1352905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8946061 Spmip5 sperm microtubule inner protein 5 gene DOID:630 genetic disease ISO RGD:1352905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946074 Pls3 plastin 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8946074 Pls3 plastin 3 gene DOID:12347 osteogenesis imperfecta ISO RGD:731591 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24088043|PMID:25741868|PMID:28492532 8946074 Pls3 plastin 3 gene DOID:12849 autistic disorder ISO RGD:731591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8946074 Pls3 plastin 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia 8946074 Pls3 plastin 3 gene DOID:630 genetic disease ISO RGD:731591 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8946074 Pls3 plastin 3 gene DOID:8398 osteoarthritis ISO RGD:731591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8946074 Pls3 plastin 3 gene DOID:9000835 Anterior Diaphragmatic Hernia ISO RGD:731591 D RGD:7240710 20231122 OMIM 8946074 Pls3 plastin 3 gene DOID:9000835 Anterior Diaphragmatic Hernia ISO RGD:731591 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hernia, anterior diaphragmatic PMID:37751738 8946074 Pls3 plastin 3 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:731591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:25741868 8946074 Pls3 plastin 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8946105 Astl astacin like metalloendopeptidase gene DOID:1059 intellectual disability ISO RGD:1349169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8946105 Astl astacin like metalloendopeptidase gene DOID:5419 schizophrenia ISO RGD:1349169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8946105 Astl astacin like metalloendopeptidase gene DOID:630 genetic disease ISO RGD:1349169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946105 Astl astacin like metalloendopeptidase gene DOID:9004838 Oocyte/Zygote/Embryo Maturation Arrest 11 ISO RGD:1349169 D RGD:7240710 20211222 OMIM 8946105 Astl astacin like metalloendopeptidase gene DOID:9004838 Oocyte/Zygote/Embryo Maturation Arrest 11 ISO RGD:1349169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 11 PMID:34704130 8946118 Ccdc93 coiled-coil domain containing 93 gene DOID:630 genetic disease ISO RGD:1603642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946154 Tex15 testis expressed 15, meiosis and synapsis associated gene DOID:0070168 spermatogenic failure 3 ISO RGD:1322630 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588|PMID:32165824 8946154 Tex15 testis expressed 15, meiosis and synapsis associated gene DOID:0070188 spermatogenic failure 1 ISO RGD:1322630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:26199321 8946154 Tex15 testis expressed 15, meiosis and synapsis associated gene DOID:0111920 spermatogenic failure 25 ISO RGD:1322630 D RGD:7240710 20190315 OMIM 8946154 Tex15 testis expressed 15, meiosis and synapsis associated gene DOID:0111920 spermatogenic failure 25 ISO RGD:1322630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 25 PMID:25741868|PMID:26199321|PMID:28355598|PMID:28492532 8946154 Tex15 testis expressed 15, meiosis and synapsis associated gene DOID:2661 myoepithelioma ISO RGD:1322630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8946154 Tex15 testis expressed 15, meiosis and synapsis associated gene DOID:630 genetic disease ISO RGD:1322630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8946184 Gfm1 G elongation factor mitochondrial 1 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1604558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:21119709|PMID:25741868|PMID:28216230|PMID:28492532|PMID:31683770 8946184 Gfm1 G elongation factor mitochondrial 1 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1604558 D RGD:7240710 20180130 OMIM 8946184 Gfm1 G elongation factor mitochondrial 1 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1604558 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:15537906|PMID:16199547|PMID:16632485|PMID:17160893|PMID:17576681|PMID:20843780|PMID:21119709|PMID:21364917|PMID:21986555|PMID:22277967|PMID:23430926|PMID:24033266|PMID:25741868|PMID:25852744|PMID:28216230|PMID:28492532|PMID:31680380|PMID:31683770|PMID:32313153|PMID:32746448|PMID:32776492|PMID:33093908|PMID:33176815|PMID:33210482|PMID:35703069|PMID:9536098 8946184 Gfm1 G elongation factor mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1604558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8946206 Muc1 mucin 1, cell surface associated gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22963039|REF_RGD_ID:7244290 8946206 Muc1 mucin 1, cell surface associated gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8946206 Muc1 mucin 1, cell surface associated gene DOID:0050625 biliary tract benign neoplasm ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:19129927|REF_RGD_ID:2317987 8946206 Muc1 mucin 1, cell surface associated gene DOID:0050848 obstructive sleep apnea ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19336590|REF_RGD_ID:5131166 8946206 Muc1 mucin 1, cell surface associated gene DOID:0060071 pre-malignant neoplasm ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 8946206 Muc1 mucin 1, cell surface associated gene DOID:0080600 COVID-19 ISO RGD:737252 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 8946206 Muc1 mucin 1, cell surface associated gene DOID:0111940 immunodeficiency 42 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8946206 Muc1 mucin 1, cell surface associated gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8946206 Muc1 mucin 1, cell surface associated gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:737252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8946206 Muc1 mucin 1, cell surface associated gene DOID:10140 dry eye syndrome ISO RGD:737252 D RGD:9068941 20200609 RGD DNA:splice variant: :rs4072037 (human) PMID:18619437|REF_RGD_ID:7349376 8946206 Muc1 mucin 1, cell surface associated gene DOID:10140 dry eye syndrome ISO RGD:737252 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjuctival epithelial cell, tear PMID:22089171|REF_RGD_ID:7349375 8946206 Muc1 mucin 1, cell surface associated gene DOID:10283 prostate cancer severity ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:16475027|REF_RGD_ID:7349340 8946206 Muc1 mucin 1, cell surface associated gene DOID:10754 otitis media ISO RGD:3122 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear PMID:11576628|REF_RGD_ID:2303743 8946206 Muc1 mucin 1, cell surface associated gene DOID:11054 urinary bladder cancer ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10468735|REF_RGD_ID:7245967 8946206 Muc1 mucin 1, cell surface associated gene DOID:11204 allergic conjunctivitis severity ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:17177679|REF_RGD_ID:7349351 8946206 Muc1 mucin 1, cell surface associated gene DOID:11339 pneumocystosis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9617869|REF_RGD_ID:5131424 8946206 Muc1 mucin 1, cell surface associated gene DOID:11394 adult respiratory distress syndrome ISO RGD:737252 D RGD:9068941 20200609 RGD associated with critical illness; protein:increased expression:plasma PMID:16779848|REF_RGD_ID:5131171 8946206 Muc1 mucin 1, cell surface associated gene DOID:114 heart disease ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Bronchiolitis, Viral; protein:increased expression:serum PMID:19856476|REF_RGD_ID:5131164 8946206 Muc1 mucin 1, cell surface associated gene DOID:11650 bronchopulmonary dysplasia severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:cord plasma PMID:18025794|REF_RGD_ID:5131170 8946206 Muc1 mucin 1, cell surface associated gene DOID:13406 pulmonary sarcoidosis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14665489|REF_RGD_ID:5131177 8946206 Muc1 mucin 1, cell surface associated gene DOID:13891 bird fancier's lung ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15881280|REF_RGD_ID:5131172 8946206 Muc1 mucin 1, cell surface associated gene DOID:1485 cystic fibrosis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19960788|REF_RGD_ID:5131272 8946206 Muc1 mucin 1, cell surface associated gene DOID:1540 parathyroid carcinoma ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8946206 Muc1 mucin 1, cell surface associated gene DOID:1612 breast cancer ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:8869094|REF_RGD_ID:7349378 8946206 Muc1 mucin 1, cell surface associated gene DOID:1790 malignant mesothelioma ISO RGD:737252 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8946206 Muc1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:18039393|PMID:18383873|PMID:18575732|PMID:19129927|REF_RGD_ID:2317987|REF_RGD_ID:2324635|REF_RGD_ID:2324637|REF_RGD_ID:2324639 8946206 Muc1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased secretion:bile PMID:19055478|REF_RGD_ID:2324622 8946206 Muc1 mucin 1, cell surface associated gene DOID:1793 pancreatic cancer disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:14654947|REF_RGD_ID:2317984 8946206 Muc1 mucin 1, cell surface associated gene DOID:2799 bronchiolitis obliterans ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16969297|REF_RGD_ID:5131273 8946206 Muc1 mucin 1, cell surface associated gene DOID:2841 asthma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11802251|REF_RGD_ID:5131281 8946206 Muc1 mucin 1, cell surface associated gene DOID:3030 mucinous adenocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Pancreatic Diseases PMID:20357691|REF_RGD_ID:2317980 8946206 Muc1 mucin 1, cell surface associated gene DOID:3082 interstitial lung disease ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:serum PMID:19286849|REF_RGD_ID:4143496 8946206 Muc1 mucin 1, cell surface associated gene DOID:3082 interstitial lung disease ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15088311|REF_RGD_ID:5131176 8946206 Muc1 mucin 1, cell surface associated gene DOID:3082 interstitial lung disease severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15654008|REF_RGD_ID:5131173 8946206 Muc1 mucin 1, cell surface associated gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:21474912|REF_RGD_ID:5131160 8946206 Muc1 mucin 1, cell surface associated gene DOID:3458 breast adenocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:breast PMID:7678777|REF_RGD_ID:2324855 8946206 Muc1 mucin 1, cell surface associated gene DOID:3587 pancreatic ductal carcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:pancreas PMID:14681945|REF_RGD_ID:2317983 8946206 Muc1 mucin 1, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:18713982|PMID:19109152|REF_RGD_ID:2324616|REF_RGD_ID:2324633 8946206 Muc1 mucin 1, cell surface associated gene DOID:3910 lung adenocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:8694545|REF_RGD_ID:5131260 8946206 Muc1 mucin 1, cell surface associated gene DOID:418 systemic scleroderma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19286849|REF_RGD_ID:4143496 8946206 Muc1 mucin 1, cell surface associated gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:10390012|REF_RGD_ID:7245968 8946206 Muc1 mucin 1, cell surface associated gene DOID:4481 allergic rhinitis ISO RGD:3122 D RGD:9068941 20210709 RGD mRNA,protein:decreased expression:nasal mucosa PMID:31425778|REF_RGD_ID:127345100 8946206 Muc1 mucin 1, cell surface associated gene DOID:4481 allergic rhinitis ISO RGD:737252 D RGD:9068941 20210709 RGD mRNA,protein:decreased expression:nasal mucosa PMID:31425778|REF_RGD_ID:127345100 8946206 Muc1 mucin 1, cell surface associated gene DOID:4481 allergic rhinitis severity ISO RGD:3122 D RGD:9068941 20210716 RGD PMID:31425778|REF_RGD_ID:127345100 8946206 Muc1 mucin 1, cell surface associated gene DOID:4608 common bile duct neoplasm disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:8766528|REF_RGD_ID:2324856 8946206 Muc1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:3122 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:18081149|REF_RGD_ID:2324638 8946206 Muc1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:3122 D RGD:9068941 20200609 RGD protein:increased expression:bile duct: PMID:15213623|REF_RGD_ID:2324667 8946206 Muc1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19260467|REF_RGD_ID:2324664 8946206 Muc1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased secretion:bile PMID:19055478|REF_RGD_ID:2324622 8946206 Muc1 mucin 1, cell surface associated gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:19639217|REF_RGD_ID:2317986 8946206 Muc1 mucin 1, cell surface associated gene DOID:552 pneumonia ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11802251|REF_RGD_ID:5131281 8946206 Muc1 mucin 1, cell surface associated gene DOID:5812 MHC class II deficiency ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8946206 Muc1 mucin 1, cell surface associated gene DOID:630 genetic disease ISO RGD:737252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946206 Muc1 mucin 1, cell surface associated gene DOID:850 lung disease ISO RGD:737252 D RGD:9068941 20200609 RGD associated with arthritis, rheumatoid; protein:increased expression:serum PMID:15526815|REF_RGD_ID:5131175 8946206 Muc1 mucin 1, cell surface associated gene DOID:850 lung disease severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10931429|REF_RGD_ID:5131182 8946206 Muc1 mucin 1, cell surface associated gene DOID:8622 measles severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11802251|REF_RGD_ID:5131281 8946206 Muc1 mucin 1, cell surface associated gene DOID:9000011 Gallbladder Neoplasms severity ISO RGD:737252 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gallbladder PMID:10398137|REF_RGD_ID:2324857 8946206 Muc1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell; PMID:10390012|REF_RGD_ID:7245968 8946206 Muc1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Common Bile Duct Neoplasms PMID:16222735|REF_RGD_ID:2324649 8946206 Muc1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Esophageal Neoplasms PMID:21339746|REF_RGD_ID:7349383 8946206 Muc1 mucin 1, cell surface associated gene DOID:9000081 Lymphatic Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Gallbladder Neoplasms;protein:altered localization:gallbladder PMID:11295067|REF_RGD_ID:2324860 8946206 Muc1 mucin 1, cell surface associated gene DOID:9000217 Stomach Neoplasms ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098866 8946206 Muc1 mucin 1, cell surface associated gene DOID:9000965 Neoplasm Metastasis ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:12941828|PMID:16707592|REF_RGD_ID:2324648|REF_RGD_ID:2324652 8946206 Muc1 mucin 1, cell surface associated gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell; PMID:10390012|REF_RGD_ID:7245968 8946206 Muc1 mucin 1, cell surface associated gene DOID:9001834 Peritoneal Neoplasms ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 8946206 Muc1 mucin 1, cell surface associated gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3122 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:bile duct PMID:21775928|REF_RGD_ID:7364757 8946206 Muc1 mucin 1, cell surface associated gene DOID:9002231 Fetal Growth Retardation ISO RGD:3122 D RGD:9068941 20200609 RGD PMID:19287349|REF_RGD_ID:7349369 8946206 Muc1 mucin 1, cell surface associated gene DOID:9002661 Diabetes Complications ISO RGD:3122 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23977093|REF_RGD_ID:7349380 8946206 Muc1 mucin 1, cell surface associated gene DOID:9002900 Autosomal Dominant Tubulointerstitial Kidney Disease 2 ISO RGD:737252 D RGD:7240710 20180130 OMIM 8946206 Muc1 mucin 1, cell surface associated gene DOID:9002900 Autosomal Dominant Tubulointerstitial Kidney Disease 2 ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MUC1-related condition | ClinVar Annotator: match by term: Tubulointerstitial kidney disease, autosomal dominant, 2 PMID:15384011|PMID:23396133|PMID:25741868|PMID:33532864 8946206 Muc1 mucin 1, cell surface associated gene DOID:9003566 Mesothelioma ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18454162 8946206 Muc1 mucin 1, cell surface associated gene DOID:9004009 Reperfusion Injury ISO RGD:3122 D RGD:9068941 20200609 RGD PMID:23977093|REF_RGD_ID:7349380 8946206 Muc1 mucin 1, cell surface associated gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:737252 D RGD:9068941 20200609 RGD PMID:23015160|REF_RGD_ID:7349374 8946206 Muc1 mucin 1, cell surface associated gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3122 D RGD:9068941 20200609 RGD PMID:22019164|REF_RGD_ID:7245959 8946206 Muc1 mucin 1, cell surface associated gene DOID:9006404 Tubulointerstitial Nephritis and Uveitis ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule, serum: PMID:17162148|REF_RGD_ID:7246892 8946206 Muc1 mucin 1, cell surface associated gene DOID:9006532 Hematologic Neoplasms ISO RGD:737252 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumocystis; protein:increased expression:serum PMID:12186700|REF_RGD_ID:5131276 8946206 Muc1 mucin 1, cell surface associated gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:737252 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19856476|REF_RGD_ID:5131164 8946206 Muc1 mucin 1, cell surface associated gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22457794 8946206 Muc1 mucin 1, cell surface associated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8946206 Muc1 mucin 1, cell surface associated gene DOID:9423 blepharitis ISO RGD:10927 D RGD:9068941 20200609 RGD PMID:10359313|REF_RGD_ID:7349379 8946206 Muc1 mucin 1, cell surface associated gene DOID:9538 multiple myeloma ISO RGD:737252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9949172 8946206 Muc1 mucin 1, cell surface associated gene DOID:9700 bacterial conjunctivitis ISO RGD:10927 D RGD:9068941 20200609 RGD PMID:10359313|REF_RGD_ID:7349379 8946228 Lpxn leupaxin gene DOID:1059 intellectual disability ISO RGD:1312734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8946228 Lpxn leupaxin gene DOID:630 genetic disease ISO RGD:1312734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946228 Lpxn leupaxin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8946244 Efhb EF-hand domain family member B gene DOID:0060417 3p deletion syndrome ISO RGD:1349676 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 8946244 Efhb EF-hand domain family member B gene DOID:630 genetic disease ISO RGD:1349676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946286 Fer1l6 fer-1 like family member 6 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1625099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8946286 Fer1l6 fer-1 like family member 6 gene DOID:630 genetic disease ISO RGD:1625099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946333 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1321433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 8946333 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0080600 COVID-19 ISO RGD:1321433 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8946333 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321433 D RGD:7240710 20180130 OMIM 8946333 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1321433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:10417273|PMID:15373769|PMID:15389701|PMID:16199547|PMID:1642226|PMID:16770806|PMID:17090394|PMID:17576681|PMID:18973246|PMID:21567906|PMID:22863189|PMID:23495203|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25640679|PMID:25741868|PMID:26765342|PMID:28128410|PMID:28346524|PMID:28492532|PMID:29843651|PMID:33389145|PMID:7735500|PMID:8215497|PMID:8986271|PMID:9536098 8946333 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1321433 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:22863189|PMID:25741868|PMID:28346524|PMID:28492532|PMID:29843651 8946333 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:13359 Ehlers-Danlos syndrome susceptibility ISO RGD:1321433 D RGD:9068941 20200609 RGD PMID:10417273|REF_RGD_ID:1598739 8946333 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:14748 Sotos syndrome ISO RGD:1321433 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8946333 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:1790 malignant mesothelioma ISO RGD:1321433 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26139392 8946333 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:630 genetic disease ISO RGD:1321433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8946333 Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif 2 gene DOID:9007096 Stroke susceptibility ISO RGD:1321433 D RGD:9068941 20200609 RGD DNA:SNP::rs469568(human) PMID:22990015|REF_RGD_ID:9681739 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1349671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1349671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:0090057 X-linked dystonia-parkinsonism ISO RGD:1349671 D RGD:7240710 20180130 OMIM 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:0090057 X-linked dystonia-parkinsonism ISO RGD:1349671 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: X-linked dystonia-parkinsonism PMID:17273961|PMID:25741868|PMID:28492532|PMID:32396742 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:1059 intellectual disability ISO RGD:1349671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:12849 autistic disorder ISO RGD:1349671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:1682 congenital heart disease ISO RGD:1349671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:26637982|PMID:28492532|PMID:32396742|PMID:33098347 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:630 genetic disease ISO RGD:1349671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1349671 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:26637982 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:9007042 Syndromic X-Linked Mental Retardation 33 ISO RGD:1349671 D RGD:7240710 20190315 OMIM 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:9007042 Syndromic X-Linked Mental Retardation 33 ISO RGD:1349671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 | ClinVar Annotator: match by term: TAF1-related syndromic intellectual disability PMID:17576681|PMID:25741868|PMID:26637982|PMID:28492532|PMID:29302074|PMID:31646703|PMID:31985533|PMID:32396742|PMID:33098347|PMID:9536098 8946359 Taf1 TATA-box binding protein associated factor 1 gene DOID:9007898 FG Syndrome 1 ISO RGD:1349671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 8946411 Sh3bgrl2 SH3 domain binding glutamate rich protein like 2 gene DOID:0110215 Leber congenital amaurosis 5 ISO RGD:1314135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 5 PMID:10631161|PMID:16123401|PMID:17546029 8946411 Sh3bgrl2 SH3 domain binding glutamate rich protein like 2 gene DOID:630 genetic disease ISO RGD:1314135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946411 Sh3bgrl2 SH3 domain binding glutamate rich protein like 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8946411 Sh3bgrl2 SH3 domain binding glutamate rich protein like 2 gene DOID:9269 maple syrup urine disease ISO RGD:1314135 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16786533|PMID:22593002|PMID:24571530|PMID:28492532 8946441 Rpp14 ribonuclease P/MRP subunit p14 gene DOID:630 genetic disease ISO RGD:1313464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946441 Rpp14 ribonuclease P/MRP subunit p14 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1313464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8946459 Fcgrt Fc gamma receptor and transporter gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:736100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8946459 Fcgrt Fc gamma receptor and transporter gene DOID:630 genetic disease ISO RGD:736100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946473 Rccd1 RCC1 domain containing 1 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1605899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8946473 Rccd1 RCC1 domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1605899 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8946473 Rccd1 RCC1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1605899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946473 Rccd1 RCC1 domain containing 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605899 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8946485 Sox11 SRY-box transcription factor 11 gene DOID:0070057 Coffin-Siris syndrome 9 ISO RGD:735734 D RGD:7240710 20180130 OMIM 8946485 Sox11 SRY-box transcription factor 11 gene DOID:0070057 Coffin-Siris syndrome 9 ISO RGD:735734 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 PMID:24886874|PMID:25741868|PMID:26543203|PMID:28492532|PMID:28787104|PMID:31292255|PMID:32860008|PMID:33086258|PMID:33785884|PMID:35341651|PMID:35642566|PMID:35938035 8946485 Sox11 SRY-box transcription factor 11 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8946485 Sox11 SRY-box transcription factor 11 gene DOID:1925 Coffin-Siris syndrome ISO RGD:735734 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome PMID:25741868|PMID:26543203 8946485 Sox11 SRY-box transcription factor 11 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:735735 D RGD:9068941 20220825 MouseDO OMIM:261800 8946485 Sox11 SRY-box transcription factor 11 gene DOID:630 genetic disease ISO RGD:735734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15254231|PMID:24886874|PMID:25741868|PMID:26543203|PMID:28492532 8946485 Sox11 SRY-box transcription factor 11 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:735734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8946485 Sox11 SRY-box transcription factor 11 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:735734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8946485 Sox11 SRY-box transcription factor 11 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8946485 Sox11 SRY-box transcription factor 11 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:735734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 8946494 Nsmce4a NSE4 homolog A, SMC5-SMC6 complex component gene DOID:2340 craniosynostosis ISO RGD:1319136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 8946494 Nsmce4a NSE4 homolog A, SMC5-SMC6 complex component gene DOID:630 genetic disease ISO RGD:1319136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946519 Cip2a cellular inhibitor of PP2A gene DOID:630 genetic disease ISO RGD:1343416 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946544 Apob apolipoprotein B gene DOID:0050952 spastic ataxia ISO RGD:735787 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:34445196 8946544 Apob apolipoprotein B gene DOID:0080665 warfarin resistance ISO RGD:735787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:23593297|PMID:25741868|PMID:26467025|PMID:26612772|PMID:26690388|PMID:27516387|PMID:28492532|PMID:29036232|PMID:29083407|PMID:29353225|PMID:30420299|PMID:30526649 8946544 Apob apolipoprotein B gene DOID:0080666 warfarin sensitivity ISO RGD:735787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:23593297|PMID:25741868|PMID:26467025|PMID:26612772|PMID:26690388|PMID:27516387|PMID:28492532|PMID:29036232|PMID:29083407|PMID:29353225|PMID:30420299|PMID:30526649 8946544 Apob apolipoprotein B gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18458655 8946544 Apob apolipoprotein B gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:14732481|PMID:20981092|PMID:21408211|PMID:24033266|PMID:25741868|PMID:26332594|PMID:26467025|PMID:27153395|PMID:28008009|PMID:28492532|PMID:30270084|PMID:30782561|PMID:31150472 8946544 Apob apolipoprotein B gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:735788 D RGD:9068941 20220825 MouseDO OMIM:605019 8946544 Apob apolipoprotein B gene DOID:0111062 familial hypobetalipoproteinemia 1 ISO RGD:735787 D RGD:7240710 20180130 OMIM 8946544 Apob apolipoprotein B gene DOID:0111062 familial hypobetalipoproteinemia 1 ISO RGD:735787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:1731805|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:1939657|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24751931|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25335495|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25712136|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26546829|PMID:26612772|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27365461|PMID:27497240|PMID:27516387|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28518168|PMID:28733173|PMID:28895539|PMID:28953935|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:2909827|PMID:29192238|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29540175|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30122538|PMID:30206226|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30348779|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31153816|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31893465|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32355288|PMID:32461654|PMID:32625235|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33059327|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:33875564|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34456049|PMID:34650182|PMID:3477815|PMID:34875256|PMID:35047021|PMID:35276540|PMID:35339733|PMID:35741760|PMID:35761384|PMID:35910211|PMID:35913489|PMID:36105085|PMID:36190978|PMID:36196022|PMID:36499307|PMID:36555767|PMID:36973604|PMID:3771801|PMID:3975124|PMID:4031057|PMID:7229035|PMID:7627691|PMID:7670940|PMID:7882518|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592 8946544 Apob apolipoprotein B gene DOID:0111062 familial hypobetalipoproteinemia 1 ISO RGD:735787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:0111062 familial hypobetalipoproteinemia 1 ISO RGD:735787 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:1731805|PMID:174884|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:1939657|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21513517|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24751931|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25335495|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25712136|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26546829|PMID:26612772|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27365461|PMID:27497240|PMID:27516387|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28518168|PMID:28733173|PMID:28895539|PMID:28953935|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:2909827|PMID:29192238|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29540175|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30122538|PMID:30206226|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30348779|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31019026|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31153816|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31893465|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32355288|PMID:32461654|PMID:32591292|PMID:32625235|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33059327|PMID:33111339|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:33875564|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34445196|PMID:34456049|PMID:34650182|PMID:3477815|PMID:34875256|PMID:35047021|PMID:35052492|PMID:35276540|PMID:35339733|PMID:35741760|PMID:35761384|PMID:35910211|PMID:35913489|PMID:36105085|PMID:36190978|PMID:36196022|PMID:36499307|PMID:36555767|PMID:36973604|PMID:37593691|PMID:3771801|PMID:3975124|PMID:4031057|PMID:7229035|PMID:7627691|PMID:7670940|PMID:7882518|PMID:7883971 8946544 Apob apolipoprotein B gene DOID:0111062 familial hypobetalipoproteinemia 1 ISO RGD:735787 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: APOB-related condition | ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 | ClinVar Annotator: match by term: Hypobetalipoproteinemia, normotriglyceridemic PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:10608 celiac disease ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8946544 Apob apolipoprotein B gene DOID:10923 sickle cell anemia treatment ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:24035168|REF_RGD_ID:11354943 8946544 Apob apolipoprotein B gene DOID:1168 familial hyperlipidemia ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17658632 8946544 Apob apolipoprotein B gene DOID:1168 familial hyperlipidemia ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:7627691|REF_RGD_ID:1578419 8946544 Apob apolipoprotein B gene DOID:1168 familial hyperlipidemia treatment ISO RGD:735788 D RGD:9068941 20200609 RGD PMID:15716585|REF_RGD_ID:14401726 8946544 Apob apolipoprotein B gene DOID:1184 nephrotic syndrome ISO RGD:2129 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:11135070|REF_RGD_ID:11353965 8946544 Apob apolipoprotein B gene DOID:12241 beta thalassemia ISO RGD:735787 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:9180253|REF_RGD_ID:11354944 8946544 Apob apolipoprotein B gene DOID:1287 cardiovascular system disease ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732|PMID:17002798 8946544 Apob apolipoprotein B gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:27578115|REF_RGD_ID:14695090 8946544 Apob apolipoprotein B gene DOID:13241 Behcet's disease ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12074830 8946544 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:11941481|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18258526|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:27153395|PMID:27206935|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28166811|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29261184|PMID:29290422|PMID:29386597|PMID:29572815|PMID:29598884|PMID:30056620|PMID:30122538|PMID:30270084|PMID:30526649|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:33207932|PMID:33269076|PMID:33303402|PMID:3399894|PMID:3473077|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:1360085|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15797858|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17765246|PMID:1793440|PMID:17964958|PMID:18028451|PMID:18096825|PMID:18222178|PMID:18325181|PMID:18700895|PMID:18710658|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20236128|PMID:20538126|PMID:20736250|PMID:20809525|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21657943|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22698793|PMID:2280177|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:2375782|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24507774|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26036859|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:27153395|PMID:27206935|PMID:27497240|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27831900|PMID:27872105|PMID:28008009|PMID:28104544|PMID:28428224|PMID:28492532|PMID:28965616|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29555771|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30420299|PMID:30586733|PMID:30592178|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31150472|PMID:31345425|PMID:31447099|PMID:32719484|PMID:33269076|PMID:33418990|PMID:33740630|PMID:34037665|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9603795|PMID:9654205|PMID:9702952 8946544 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33020668|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12124991|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21270786|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:25974703|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:36973604|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7882518|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29192238|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31153816|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31893465|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:35339733|PMID:35741760|PMID:35910211|PMID:35913489|PMID:36555767|PMID:36973604|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7882518|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31153816|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31893465|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:35339733|PMID:35741760|PMID:35910211|PMID:35913489|PMID:36555767|PMID:36973604|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7882518|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25712136|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26546829|PMID:26612772|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27365461|PMID:27497240|PMID:27516387|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28953935|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29540175|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30206226|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30348779|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31153816|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31893465|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32355288|PMID:32625235|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33059327|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:33875564|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34456049|PMID:34650182|PMID:3477815|PMID:34875256|PMID:35047021|PMID:35276540|PMID:35339733|PMID:35741760|PMID:35761384|PMID:35910211|PMID:35913489|PMID:36105085|PMID:36190978|PMID:36196022|PMID:36499307|PMID:36555767|PMID:36973604|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7882518|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:174884|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21513517|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25712136|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26546829|PMID:26612772|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27365461|PMID:27497240|PMID:27516387|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28953935|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29540175|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30206226|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30348779|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31153816|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31893465|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32355288|PMID:32591292|PMID:32625235|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33059327|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:33875564|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34445196|PMID:34456049|PMID:34650182|PMID:3477815|PMID:34875256|PMID:35047021|PMID:35052492|PMID:35276540|PMID:35339733|PMID:35741760|PMID:35761384|PMID:35910211|PMID:35913489|PMID:36105085|PMID:36190978|PMID:36196022|PMID:36499307|PMID:36555767|PMID:36973604|PMID:37593691|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7882518|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795 8946544 Apob apolipoprotein B gene DOID:13809 familial combined hyperlipidemia ISO RGD:735787 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12031600|PMID:1360085|PMID:1424233|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18258526|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:27153395|PMID:27206935|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28166811|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29261184|PMID:29290422|PMID:29386597|PMID:29572815|PMID:29598884|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30270084|PMID:30526649|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:33269076|PMID:33303402|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12031600|PMID:12124991|PMID:1360085|PMID:1424233|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21270786|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:25974703|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29396286|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30389453|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:12031600|PMID:12124991|PMID:1360085|PMID:1424233|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26361156|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29396286|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30389453|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:13810 familial hypercholesterolemia ISO RGD:735787 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12031600|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:174884|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20236128|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21513517|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25712136|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26546829|PMID:26612772|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27365461|PMID:27497240|PMID:27516387|PMID:27578127|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29083407|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29540175|PMID:29555771|PMID:29572815|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:31589614|PMID:31624253|PMID:31893465|PMID:32009526|PMID:32115487|PMID:32355288|PMID:32591292|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:33875564|PMID:34037665|PMID:34297352|PMID:34428338|PMID:34456049|PMID:34650182|PMID:3477815|PMID:35047021|PMID:35052492|PMID:35276540|PMID:35339733|PMID:35741760|PMID:35910211|PMID:35913489|PMID:35979295|PMID:36071769|PMID:36105085|PMID:36190978|PMID:36196022|PMID:37593691|PMID:37675602|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:1390 hypobetalipoproteinemia ISO RGD:735787 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:11941481|PMID:12124991|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:1562615|PMID:15797858|PMID:15805152|PMID:1600334|PMID:1602000|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:174884|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21513517|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:21981844|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:2312735|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24751931|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25335495|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2567736|PMID:25712136|PMID:2574033|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26546829|PMID:26612772|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27365461|PMID:27497240|PMID:27516387|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28953935|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29540175|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30206226|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30348779|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31153816|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31893465|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32355288|PMID:32591292|PMID:32625235|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33059327|PMID:33111339|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:33875564|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34445196|PMID:34456049|PMID:34650182|PMID:3473077|PMID:3477815|PMID:34875256|PMID:35047021|PMID:35052492|PMID:35276540|PMID:35339733|PMID:35741760|PMID:35761384|PMID:35910211|PMID:35913489|PMID:36105085|PMID:36190978|PMID:36196022|PMID:36499307|PMID:36555767|PMID:36973604|PMID:37593691|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7882518|PMID:7883971 8946544 Apob apolipoprotein B gene DOID:1390 hypobetalipoproteinemia ISO RGD:735787 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia | ClinVar Annotator: match by term: HYPOBETALIPOPROTEINEMIA, FAMILIAL | ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8792774|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:1390 hypobetalipoproteinemia susceptibility ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:3473077|REF_RGD_ID:1599164 8946544 Apob apolipoprotein B gene DOID:1712 aortic valve stenosis ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:11903341|REF_RGD_ID:1578425 8946544 Apob apolipoprotein B gene DOID:2349 arteriosclerosis ISO RGD:735787 D RGD:9068941 20200609 RGD associated with Obesity PMID:19260948|REF_RGD_ID:2312763 8946544 Apob apolipoprotein B gene DOID:2394 ovarian cancer severity ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:9023386|REF_RGD_ID:11354936 8946544 Apob apolipoprotein B gene DOID:3121 gallbladder cancer ISO RGD:735787 D RGD:9068941 20200609 RGD DNA:SNP: :rs693 (human) PMID:20082485|REF_RGD_ID:2325761 8946544 Apob apolipoprotein B gene DOID:3121 gallbladder cancer susceptibility ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:17696941|REF_RGD_ID:2325764 8946544 Apob apolipoprotein B gene DOID:3393 coronary artery disease ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:9585673|REF_RGD_ID:1578418 8946544 Apob apolipoprotein B gene DOID:3393 coronary artery disease ISO RGD:735787 D RGD:9068941 20231221 RGD DNA:SNP:CDS:rs1042031 (human) PMID:28167353|REF_RGD_ID:329901772 8946544 Apob apolipoprotein B gene DOID:3393 coronary artery disease no_association ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:1732399|REF_RGD_ID:1578417 8946544 Apob apolipoprotein B gene DOID:3526 cerebral infarction ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2352345|REF_RGD_ID:2313973 8946544 Apob apolipoprotein B gene DOID:4606 bile duct cancer susceptibility ISO RGD:735787 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) PMID:18296645|REF_RGD_ID:2317550 8946544 Apob apolipoprotein B gene DOID:4607 biliary tract cancer ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18076041|REF_RGD_ID:2325763 8946544 Apob apolipoprotein B gene DOID:4608 common bile duct neoplasm ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18076041|REF_RGD_ID:2325763 8946544 Apob apolipoprotein B gene DOID:630 genetic disease ISO RGD:735787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26361156|PMID:26467025|PMID:28492532|PMID:28518168|PMID:32115487|PMID:32461654|PMID:36190978 8946544 Apob apolipoprotein B gene DOID:8947 diabetic retinopathy ISO RGD:735787 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19448981|REF_RGD_ID:2313976 8946544 Apob apolipoprotein B gene DOID:9000185 Coumarin Sensitivity ISO RGD:735787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:23593297|PMID:25741868|PMID:26467025|PMID:26612772|PMID:26690388|PMID:27516387|PMID:28492532|PMID:29036232|PMID:29083407|PMID:29353225|PMID:30420299|PMID:30526649 8946544 Apob apolipoprotein B gene DOID:9000528 Coronary Disease ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 8946544 Apob apolipoprotein B gene DOID:9000543 Death ISO RGD:735787 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:19412820|REF_RGD_ID:2313977 8946544 Apob apolipoprotein B gene DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B ISO RGD:735787 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11941481|PMID:12124991|PMID:12872264|PMID:1360085|PMID:14508510|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:174884|PMID:17539906|PMID:17570373|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21513517|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25712136|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26546829|PMID:26612772|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:27365461|PMID:27497240|PMID:27516387|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28405938|PMID:28428224|PMID:28431867|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28953935|PMID:28958330|PMID:28965616|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29540175|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30122538|PMID:30206226|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30348779|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31153816|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31893465|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32355288|PMID:32591292|PMID:32625235|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33059327|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:33875564|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34445196|PMID:34456049|PMID:34650182|PMID:3477815|PMID:34875256|PMID:35047021|PMID:35052492|PMID:35276540|PMID:35339733|PMID:35741760|PMID:35761384|PMID:35910211|PMID:35913489|PMID:36105085|PMID:36190978|PMID:36196022|PMID:36499307|PMID:36555767|PMID:36973604|PMID:37593691|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7882518|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9568749|PMID:9603795 8946544 Apob apolipoprotein B gene DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B ISO RGD:735787 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:9000808 Hypercholesterolemia ISO RGD:735787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia PMID:20657596|PMID:22923420|PMID:24033266|PMID:25647241|PMID:25741868|PMID:26415676|PMID:26467025|PMID:27578127|PMID:28492532|PMID:28518168|PMID:32115487|PMID:32461654|PMID:35339733|PMID:36190978 8946544 Apob apolipoprotein B gene DOID:9002123 Familial Hypobetalipoproteinemia, Apolipoprotein B ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2567736|PMID:2843815|PMID:3473077 8946544 Apob apolipoprotein B gene DOID:9002165 Diabetic Nephropathies ISO RGD:735787 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19324028|REF_RGD_ID:2313979 8946544 Apob apolipoprotein B gene DOID:9003370 Dyslipidemias ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18230960 8946544 Apob apolipoprotein B gene DOID:9004262 Isolated Systolic Hypertension ISO RGD:735787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated systolic hypertension PMID:25741868|PMID:28492532 8946544 Apob apolipoprotein B gene DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:25741868 8946544 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:7240710 20180130 OMIM 8946544 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18258526|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24784157|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:27153395|PMID:27206935|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29555771|PMID:29572815|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:32719484|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33740630|PMID:3399894|PMID:34037665|PMID:3473077|PMID:3477815|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33020668|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:11941481|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29590070|PMID:29598884|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31447099|PMID:31570899|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8843188|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27497240|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28518168|PMID:28733173|PMID:28895539|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31624253|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32461654|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34650182|PMID:3473077|PMID:3477815|PMID:35047021|PMID:35276540|PMID:36190978|PMID:36973604|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7882518|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8843188|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:11941481|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25647241|PMID:25712136|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26546829|PMID:26612772|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27365461|PMID:27497240|PMID:27516387|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28518168|PMID:28733173|PMID:28895539|PMID:28953935|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29540175|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30206226|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30337457|PMID:30348779|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31153816|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31589614|PMID:31624253|PMID:31893465|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32355288|PMID:32461654|PMID:32489792|PMID:32625235|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33059327|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:33875564|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34650182|PMID:3473077|PMID:3477815|PMID:34875256|PMID:35047021|PMID:35276540|PMID:35339733|PMID:35741760|PMID:35761384|PMID:35910211|PMID:35913489|PMID:35979295|PMID:36071769|PMID:36105085|PMID:36190978|PMID:36196022 8946544 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:36499307|PMID:36555767|PMID:36973604|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7882518|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8843188|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:10208479|PMID:10388479|PMID:10529757|PMID:10735632|PMID:10952765|PMID:11031227|PMID:11115503|PMID:11137107|PMID:11238294|PMID:11494965|PMID:11781700|PMID:11810272|PMID:11833852|PMID:11940084|PMID:11941481|PMID:12124991|PMID:12655413|PMID:12872264|PMID:1360085|PMID:1424233|PMID:1431583|PMID:14508510|PMID:1454832|PMID:1466657|PMID:14732481|PMID:1493642|PMID:15135245|PMID:15514099|PMID:15797858|PMID:15805152|PMID:15984016|PMID:1600334|PMID:16199547|PMID:16250003|PMID:17043676|PMID:17046772|PMID:17087781|PMID:17142622|PMID:17160438|PMID:174884|PMID:17539906|PMID:17570373|PMID:17576681|PMID:17588943|PMID:17595251|PMID:1770316|PMID:17765246|PMID:1793440|PMID:17964958|PMID:17968143|PMID:18022922|PMID:18028451|PMID:18096825|PMID:18160469|PMID:18222178|PMID:18279815|PMID:18325181|PMID:18355452|PMID:18492086|PMID:18700895|PMID:18710658|PMID:19084451|PMID:1940616|PMID:19602640|PMID:1977310|PMID:20032471|PMID:20145306|PMID:20167924|PMID:2022744|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20592474|PMID:20657596|PMID:20736250|PMID:20809525|PMID:20828696|PMID:20981092|PMID:21033204|PMID:21059979|PMID:21303902|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21408211|PMID:21513517|PMID:21520333|PMID:21657943|PMID:21722902|PMID:21862702|PMID:21868016|PMID:21919778|PMID:22095935|PMID:221546|PMID:22244043|PMID:22256951|PMID:22294733|PMID:22353362|PMID:22408029|PMID:22534770|PMID:22544856|PMID:22698793|PMID:2280177|PMID:22855658|PMID:22863191|PMID:22883975|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:23593297|PMID:23680767|PMID:23685560|PMID:2375782|PMID:23775634|PMID:23833242|PMID:23936638|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24498611|PMID:24503134|PMID:24507774|PMID:24507775|PMID:24607922|PMID:24627126|PMID:24784157|PMID:24842304|PMID:24892279|PMID:24956927|PMID:24987033|PMID:25430706|PMID:25461735|PMID:2563166|PMID:25632026|PMID:25647241|PMID:25712136|PMID:2574033|PMID:25741868|PMID:25741869|PMID:26020417|PMID:26036859|PMID:26064709|PMID:2614276|PMID:26332594|PMID:26415676|PMID:26467025|PMID:26516186|PMID:26546829|PMID:26612772|PMID:26636822|PMID:26643808|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26802169|PMID:26892515|PMID:27153395|PMID:27206935|PMID:27206948|PMID:2725600|PMID:27365461|PMID:27497240|PMID:27516387|PMID:27578127|PMID:27654142|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27884173|PMID:27919364|PMID:27932355|PMID:28008009|PMID:28104544|PMID:28166811|PMID:28405938|PMID:28428224|PMID:28431867|PMID:2843815|PMID:28475941|PMID:28492532|PMID:28518168|PMID:28733173|PMID:28895539|PMID:28953935|PMID:28958330|PMID:28965616|PMID:2903181|PMID:29036232|PMID:29083407|PMID:29192238|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29353225|PMID:29386597|PMID:29459468|PMID:29540175|PMID:29555771|PMID:29572815|PMID:29598884|PMID:29870584|PMID:30030251|PMID:30056620|PMID:30076208|PMID:30122538|PMID:30206226|PMID:30217213|PMID:30270084|PMID:30270359|PMID:30291343|PMID:30333156|PMID:30337457|PMID:30348779|PMID:30420299|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30681615|PMID:30694319|PMID:30710474|PMID:30782561|PMID:30842500|PMID:30971288|PMID:31000363|PMID:31019026|PMID:31028937|PMID:31106297|PMID:31135820|PMID:31150472|PMID:31153816|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31570899|PMID:31589614|PMID:31624253|PMID:31893465|PMID:31980526|PMID:32009526|PMID:32044282|PMID:32101375|PMID:32115487|PMID:32355288|PMID:32461654|PMID:32489792|PMID:32591292|PMID:32625235|PMID:32702746|PMID:32706999|PMID:32719484|PMID:32770674|PMID:33006316|PMID:33020668|PMID:33059327|PMID:33111339|PMID:33137929|PMID:33207932|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33489595|PMID:33508743|PMID:33519890|PMID:33740630|PMID:33875564|PMID:3399894|PMID:34037665|PMID:34297352|PMID:34340953|PMID:34426522|PMID:34428338|PMID:34445196|PMID:34456049|PMID:34650182|PMID:3473077|PMID:3477815|PMID:34875256|PMID:35047021|PMID:35052492|PMID:35276540 8946544 Apob apolipoprotein B gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735787 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 PMID:35339733|PMID:35741760|PMID:35761384|PMID:35910211|PMID:35913489|PMID:35979295|PMID:36071769|PMID:36105085|PMID:36190978|PMID:36196022|PMID:36499307|PMID:36555767|PMID:36973604|PMID:37593691|PMID:37675602|PMID:3771801|PMID:7627691|PMID:7670940|PMID:7882518|PMID:7883971|PMID:7947592|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8354962|PMID:8371062|PMID:8468533|PMID:8478017|PMID:8723684|PMID:8831935|PMID:8843188|PMID:8889592|PMID:8931699|PMID:8960785|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9191540|PMID:9254062|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9490296|PMID:9536098|PMID:9568749|PMID:9603795|PMID:9654205|PMID:9702952|PMID:9925662 8946544 Apob apolipoprotein B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2129 D RGD:9068941 20200609 RGD PMID:17292734|REF_RGD_ID:1642185 8946544 Apob apolipoprotein B gene DOID:9005930 Endotoxemia ISO RGD:2129 D RGD:9068941 20200609 RGD PMID:16719989|REF_RGD_ID:1599165 8946544 Apob apolipoprotein B gene DOID:9006599 Hypertriglyceridemia ISO RGD:2129 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:8121310|REF_RGD_ID:11353966 8946544 Apob apolipoprotein B gene DOID:9006599 Hypertriglyceridemia ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657596 8946544 Apob apolipoprotein B gene DOID:9006646 Metabolic Syndrome ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16828905|REF_RGD_ID:1601198 8946544 Apob apolipoprotein B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8946544 Apob apolipoprotein B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735787 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31186542 8946544 Apob apolipoprotein B gene DOID:9007096 Stroke ISO RGD:735787 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stroke PMID:10208479|PMID:10388479|PMID:10735632|PMID:10952765|PMID:11115503|PMID:11137107|PMID:11494965|PMID:11781700|PMID:11810272|PMID:1360085|PMID:14508510|PMID:1466657|PMID:1493642|PMID:15797858|PMID:1600334|PMID:16250003|PMID:17142622|PMID:17160438|PMID:174884|PMID:17539906|PMID:17765246|PMID:1793440|PMID:18028451|PMID:18096825|PMID:18222178|PMID:18325181|PMID:18700895|PMID:1977310|PMID:20145306|PMID:20236128|PMID:20736250|PMID:20809525|PMID:21059979|PMID:21310417|PMID:21382890|PMID:21513517|PMID:21657943|PMID:21868016|PMID:21919778|PMID:22095935|PMID:22244043|PMID:22698793|PMID:2280177|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23375686|PMID:2375782|PMID:24033266|PMID:24106285|PMID:24234650|PMID:24404629|PMID:24507774|PMID:24956927|PMID:24987033|PMID:25461735|PMID:2563166|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:26636822|PMID:26643808|PMID:26892515|PMID:27497240|PMID:27765764|PMID:27784735|PMID:27824480|PMID:27831900|PMID:27872105|PMID:27919364|PMID:28104544|PMID:28428224|PMID:28492532|PMID:28965616|PMID:29261184|PMID:29284604|PMID:29555771|PMID:30030251|PMID:30122538|PMID:30270359|PMID:30592178|PMID:31028937|PMID:31106297|PMID:31345425|PMID:32591292|PMID:3477815|PMID:35052492|PMID:35741760|PMID:37593691|PMID:3771801|PMID:7627691|PMID:7883971|PMID:8141833|PMID:8254047|PMID:8318509|PMID:8318993|PMID:8371062|PMID:8478017|PMID:8723684|PMID:8831935|PMID:9081691|PMID:9104431|PMID:9105560|PMID:9259199|PMID:9339363|PMID:9486979|PMID:9603795|PMID:9654205 8946544 Apob apolipoprotein B gene DOID:9007102 Myocardial Ischemia ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:9603795|REF_RGD_ID:1578415 8946544 Apob apolipoprotein B gene DOID:9007925 Sudden Cardiac Death ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:17045270|REF_RGD_ID:1601197 8946544 Apob apolipoprotein B gene DOID:9008217 Hemorrhage ISO RGD:735787 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31186542 8946544 Apob apolipoprotein B gene DOID:9351 diabetes mellitus ISO RGD:735787 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2352345|REF_RGD_ID:2313973 8946544 Apob apolipoprotein B gene DOID:9352 type 2 diabetes mellitus ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:18945923|REF_RGD_ID:2313981 8946544 Apob apolipoprotein B gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:15161783|REF_RGD_ID:11354945 8946544 Apob apolipoprotein B gene DOID:9452 steatotic liver disease ISO RGD:2129 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17203948|REF_RGD_ID:2325770 8946544 Apob apolipoprotein B gene DOID:9452 steatotic liver disease ISO RGD:735787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12048068|PMID:17303181 8946544 Apob apolipoprotein B gene DOID:9744 type 1 diabetes mellitus ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:1579407|PMID:19171731|REF_RGD_ID:2313972|REF_RGD_ID:2313980 8946544 Apob apolipoprotein B gene DOID:9970 obesity ISO RGD:735787 D RGD:9068941 20200609 RGD PMID:16752182|REF_RGD_ID:1601202 8946544 Apob apolipoprotein B gene DOID:9970 obesity ISO RGD:735788 D RGD:9068941 20200609 RGD associated with Insulin Resistance;protein:increased expression:plasma PMID:19592617|REF_RGD_ID:2313974 8946582 Sumf1 sulfatase modifying factor 1 gene DOID:0050441 mucosulfatidosis ISO RGD:1553352 D RGD:9068941 20220825 MouseDO OMIM:272200 8946582 Sumf1 sulfatase modifying factor 1 gene DOID:1927 sphingolipidosis ISO RGD:1320552 D RGD:9068941 20200609 RGD Multiple Sulfatase Deficiency Disease PMID:12757705|REF_RGD_ID:1599192 8946606 Mbp myelin basic protein gene DOID:0050256 angiostrongyliasis disease_progression ISO RGD:10884 D RGD:9068941 20200609 RGD PMID:20399564|REF_RGD_ID:27226693 8946606 Mbp myelin basic protein gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:736262 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8946606 Mbp myelin basic protein gene DOID:0080695 Burn-McKeown syndrome ISO RGD:736262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8946606 Mbp myelin basic protein gene DOID:12858 Huntington's disease ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:21906685|REF_RGD_ID:7349325 8946606 Mbp myelin basic protein gene DOID:13088 periventricular leukomalacia ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:23614640|REF_RGD_ID:7327203 8946606 Mbp myelin basic protein gene DOID:1459 hypothyroidism ISO RGD:3054 D RGD:9068941 20200609 RGD PMID:11592121|REF_RGD_ID:27226698 8946606 Mbp myelin basic protein gene DOID:224 transient cerebral ischemia ISO RGD:3054 D RGD:9068941 20200609 RGD mRNA:increased expression:oligodendrocyte: PMID:11460777|REF_RGD_ID:7349336 8946606 Mbp myelin basic protein gene DOID:2377 multiple sclerosis ISO RGD:736262 D RGD:9068941 20200609 RGD PMID:1691612|REF_RGD_ID:1358488 8946606 Mbp myelin basic protein gene DOID:3213 demyelinating disease ISO RGD:3054 D RGD:9068941 20200609 RGD DNA:insertion:intron (rat) PMID:10212300|REF_RGD_ID:1358763 8946606 Mbp myelin basic protein gene DOID:3213 demyelinating disease ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2580064 8946606 Mbp myelin basic protein gene DOID:3328 temporal lobe epilepsy ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus: PMID:23727401|REF_RGD_ID:7327195 8946606 Mbp myelin basic protein gene DOID:5419 schizophrenia ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex: PMID:22750584|REF_RGD_ID:7349324 8946606 Mbp myelin basic protein gene DOID:630 genetic disease ISO RGD:736262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946606 Mbp myelin basic protein gene DOID:6420 pulmonary valve stenosis ISO RGD:736262 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8946606 Mbp myelin basic protein gene DOID:6713 cerebrovascular disease ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15159442 8946606 Mbp myelin basic protein gene DOID:8445 intestinal volvulus ISO RGD:736262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8946606 Mbp myelin basic protein gene DOID:8869 neuromyelitis optica ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18509235 8946606 Mbp myelin basic protein gene DOID:9000998 Brain Injuries ISO RGD:3054 D RGD:9068941 20200609 RGD PMID:18583256|REF_RGD_ID:7349333 8946606 Mbp myelin basic protein gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:736262 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8946606 Mbp myelin basic protein gene DOID:9001809 Urinary Retention ISO RGD:736262 D RGD:9068941 20200609 RGD associated with Meningitis;protein:increased expression:cerebrospinal fluid: PMID:16680560|REF_RGD_ID:7349338 8946606 Mbp myelin basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11501064|PMID:15159442|PMID:17884951|PMID:24070732 8946606 Mbp myelin basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736262 D RGD:9068941 20200609 RGD PMID:16285900|REF_RGD_ID:7349334 8946606 Mbp myelin basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:736262 D RGD:9068941 20200618 RGD human sequence peptide in a rat model; associated with Herpesviridae infections PMID:12811845|REF_RGD_ID:30296670 8946606 Mbp myelin basic protein gene DOID:9003420 Carbon Monoxide Poisoning ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:23146304|REF_RGD_ID:7327205 8946606 Mbp myelin basic protein gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3054 D RGD:9068941 20200609 RGD protein:decreased expression:white matter: PMID:23715956|REF_RGD_ID:7327196 8946606 Mbp myelin basic protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8946606 Mbp myelin basic protein gene DOID:9005372 Inflammation ISO RGD:736262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15159442 8946606 Mbp myelin basic protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3054 D RGD:9068941 20200609 RGD PMID:23667870|REF_RGD_ID:7327197 8946606 Mbp myelin basic protein gene DOID:9007553 neurotoxicity treatment ISO RGD:3054 D RGD:9068941 20230323 RGD PMID:33166664|REF_RGD_ID:213230154 8946606 Mbp myelin basic protein gene DOID:9008419 Volvulus Of Midgut ISO RGD:736262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8946606 Mbp myelin basic protein gene DOID:9588 encephalitis ISO RGD:3054 D RGD:9068941 20200609 RGD associated with maternal Periapical Abscess;protein:decreased expression:brain: PMID:23245577|REF_RGD_ID:7327204 8946606 Mbp myelin basic protein gene DOID:9743 diabetic neuropathy ISO RGD:3054 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:decreased expression:sciatic nerve: PMID:23735240|REF_RGD_ID:7327194 8946623 Sync syncoilin, intermediate filament protein gene DOID:630 genetic disease ISO RGD:1346585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946639 Catsperz catsper channel auxiliary subunit zeta gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2302458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8946639 Catsperz catsper channel auxiliary subunit zeta gene DOID:1059 intellectual disability ISO RGD:2302458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8946639 Catsperz catsper channel auxiliary subunit zeta gene DOID:3070 high grade glioma ISO RGD:2302458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8946639 Catsperz catsper channel auxiliary subunit zeta gene DOID:630 genetic disease ISO RGD:2302458 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1321815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:27091925|PMID:28492532|PMID:31000363 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1321815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1321815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0112067 nuclear type mitochondrial complex I deficiency 25 ISO RGD:1321815 D RGD:7240710 20190315 OMIM 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:0112067 nuclear type mitochondrial complex I deficiency 25 ISO RGD:1321815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27091925|PMID:28492532|PMID:31000363 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:10652 Alzheimer's disease ISO RGD:1321815 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:1826 epilepsy ISO RGD:1321815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:630 genetic disease ISO RGD:1321815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27091925|PMID:28492532|PMID:31000363 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:83 cataract ISO RGD:1321815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1321815 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8946667 Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1321815 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8946683 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8946683 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1307331 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:heart PMID:22449973|REF_RGD_ID:13782043 8946683 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8946683 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:630 genetic disease ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12574164 8946683 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:8725 vascular dementia ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 8946683 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8946683 Nmnat2 nicotinamide nucleotide adenylyltransferase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8946723 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:0050873 follicular lymphoma ISO RGD:732120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691987 8946723 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:0080720 autosomal dominant congenital deafness with onychodystrophy ISO RGD:732120 D RGD:7240710 20190315 OMIM 8946723 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:0080720 autosomal dominant congenital deafness with onychodystrophy ISO RGD:732120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant PMID:24913193|PMID:25741868|PMID:28396750|PMID:31581539|PMID:31655144 8946723 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:732120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8946723 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:1826 epilepsy ISO RGD:732121 D RGD:9068941 20240104 MouseDO 8946723 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:630 genetic disease ISO RGD:732120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8946723 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:8398 osteoarthritis ISO RGD:732120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8946723 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:9002680 Zimmermann-Laband Syndrome 1 ISO RGD:732120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 PMID:18541964|PMID:23994350|PMID:25915598 8946723 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:9004260 Zimmerman Laband Syndrome ISO RGD:732120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25915598 8946723 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:9008174 Zimmermann-Laband Syndrome 2 ISO RGD:732120 D RGD:7240710 20191113 OMIM 8946723 Atp6v1b2 ATPase H+ transporting V1 subunit B2 gene DOID:9008174 Zimmermann-Laband Syndrome 2 ISO RGD:732120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 | ClinVar Annotator: match by term: Zimmermann-Laband syndrome with epileptic encephalopathy PMID:18541964|PMID:23994350|PMID:25741868|PMID:25915598 8946741 Gast gastrin gene DOID:299 adenocarcinoma ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3952654 8946741 Gast gastrin gene DOID:630 genetic disease ISO RGD:735826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946741 Gast gastrin gene DOID:750 peptic ulcer disease ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10700044 8946741 Gast gastrin gene DOID:77 gastrointestinal system disease ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12729842 8946741 Gast gastrin gene DOID:9000217 Stomach Neoplasms ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15492468 8946741 Gast gastrin gene DOID:9002928 Colonic Neoplasms ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3952654 8946741 Gast gastrin gene DOID:9004009 Reperfusion Injury ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344 8946741 Gast gastrin gene DOID:9005172 Lung Neoplasms ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11208460 8946741 Gast gastrin gene DOID:9206 Barrett's esophagus ISO RGD:735826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 8946775 Atp6v1e1 ATPase H+ transporting V1 subunit E1 gene DOID:0070140 autosomal recessive cutis laxa type IIC ISO RGD:1347206 D RGD:7240710 20190315 OMIM 8946775 Atp6v1e1 ATPase H+ transporting V1 subunit E1 gene DOID:0070140 autosomal recessive cutis laxa type IIC ISO RGD:1347206 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC PMID:27023906|PMID:28065471|PMID:28492532 8946775 Atp6v1e1 ATPase H+ transporting V1 subunit E1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1347206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8946775 Atp6v1e1 ATPase H+ transporting V1 subunit E1 gene DOID:630 genetic disease ISO RGD:1347206 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8946775 Atp6v1e1 ATPase H+ transporting V1 subunit E1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8946775 Atp6v1e1 ATPase H+ transporting V1 subunit E1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1347206 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8946791 Chst3 carbohydrate sulfotransferase 3 gene DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations ISO RGD:1352183 D RGD:7240710 20180130 OMIM 8946791 Chst3 carbohydrate sulfotransferase 3 gene DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations ISO RGD:1352183 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocations PMID:112567|PMID:15098240|PMID:15215498|PMID:15368507|PMID:18513679|PMID:18698629|PMID:19320654|PMID:20830804|PMID:23918704|PMID:24300290|PMID:25741868|PMID:26402641|PMID:26572954|PMID:27753269|PMID:28492532|PMID:29453417|PMID:29620724|PMID:30200136|PMID:32639237|PMID:35583673|PMID:9039660 8946791 Chst3 carbohydrate sulfotransferase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1352183 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8946791 Chst3 carbohydrate sulfotransferase 3 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1352183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8946791 Chst3 carbohydrate sulfotransferase 3 gene DOID:0111330 combined saposin deficiency ISO RGD:1352183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 8946791 Chst3 carbohydrate sulfotransferase 3 gene DOID:14764 Larsen syndrome ISO RGD:1352183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome PMID:28492532 8946791 Chst3 carbohydrate sulfotransferase 3 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:1352183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:28492532 8946791 Chst3 carbohydrate sulfotransferase 3 gene DOID:2256 osteochondrodysplasia ISO RGD:1352183 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:28492532 8946791 Chst3 carbohydrate sulfotransferase 3 gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1352183 D RGD:9068941 20200609 RGD spondyloepiphyseal dysplasia, Omani type, OMIM:608637;DNA:missense mutation:p.R304Q PMID:15215498|REF_RGD_ID:1600853 8946791 Chst3 carbohydrate sulfotransferase 3 gene DOID:5419 schizophrenia ISO RGD:732189 D RGD:9068941 20220825 MouseDO OMIM:181500 8946791 Chst3 carbohydrate sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1352183 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8946805 Med14 mediator complex subunit 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8946805 Med14 mediator complex subunit 14 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1343127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 8946805 Med14 mediator complex subunit 14 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1343127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 8946805 Med14 mediator complex subunit 14 gene DOID:1059 intellectual disability ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8946805 Med14 mediator complex subunit 14 gene DOID:12849 autistic disorder ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8946805 Med14 mediator complex subunit 14 gene DOID:289 endometriosis ISO RGD:1343127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8946805 Med14 mediator complex subunit 14 gene DOID:630 genetic disease ISO RGD:1343127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8946805 Med14 mediator complex subunit 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8946805 Med14 mediator complex subunit 14 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1343127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8946846 Adprhl1 ADP-ribosylhydrolase like 1 gene DOID:2222 factor X deficiency ISO RGD:1313790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8946846 Adprhl1 ADP-ribosylhydrolase like 1 gene DOID:630 genetic disease ISO RGD:1313790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946861 Klhl9 kelch like family member 9 gene DOID:5419 schizophrenia ISO RGD:1347061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8946861 Klhl9 kelch like family member 9 gene DOID:630 genetic disease ISO RGD:1347061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8946866 Ubqlnl ubiquilin like gene DOID:630 genetic disease ISO RGD:1605287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946871 Evpl envoplakin gene DOID:630 genetic disease ISO RGD:1314586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946897 Enkur enkurin, TRPC channel interacting protein gene DOID:630 genetic disease ISO RGD:1320397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946927 Tmeff1 transmembrane protein with EGF like and two follistatin like domains 1 gene DOID:1059 intellectual disability ISO RGD:735335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8946927 Tmeff1 transmembrane protein with EGF like and two follistatin like domains 1 gene DOID:630 genetic disease ISO RGD:735335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946943 Galr3 galanin receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8946943 Galr3 galanin receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8946943 Galr3 galanin receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8946943 Galr3 galanin receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8946943 Galr3 galanin receptor 3 gene DOID:1470 major depressive disorder ISO RGD:735333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27940914 8946943 Galr3 galanin receptor 3 gene DOID:630 genetic disease ISO RGD:735333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946950 Psmc6 proteasome 26S subunit, ATPase 6 gene DOID:630 genetic disease ISO RGD:1318819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946968 Ensa endosulfine alpha gene DOID:0111940 immunodeficiency 42 ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8946968 Ensa endosulfine alpha gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8946968 Ensa endosulfine alpha gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:736594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8946968 Ensa endosulfine alpha gene DOID:1540 parathyroid carcinoma ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8946968 Ensa endosulfine alpha gene DOID:5812 MHC class II deficiency ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8946968 Ensa endosulfine alpha gene DOID:630 genetic disease ISO RGD:736594 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946968 Ensa endosulfine alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:62007 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord PMID:16344894|REF_RGD_ID:2303423 8946968 Ensa endosulfine alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:736594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8946968 Ensa endosulfine alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8946994 Asic1 acid sensing ion channel subunit 1 gene DOID:1826 epilepsy ISO RGD:731360 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8946994 Asic1 acid sensing ion channel subunit 1 gene DOID:2316 brain ischemia ISO RGD:731360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21307247 8946994 Asic1 acid sensing ion channel subunit 1 gene DOID:630 genetic disease ISO RGD:731360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8946994 Asic1 acid sensing ion channel subunit 1 gene DOID:9000998 Brain Injuries ISO RGD:731360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21307247 8946994 Asic1 acid sensing ion channel subunit 1 gene DOID:9005372 Inflammation ISO RGD:731360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11588175 8947018 Pomk protein O-mannose kinase gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1602085 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8947018 Pomk protein O-mannose kinase gene DOID:0090039 torsion dystonia 6 ISO RGD:1602085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 8947018 Pomk protein O-mannose kinase gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1602085 D RGD:7240710 20180130 OMIM 8947018 Pomk protein O-mannose kinase gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1602085 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:17576681|PMID:23519211|PMID:24556084|PMID:24925318|PMID:25741868|PMID:27879205|PMID:28492532|PMID:29910097|PMID:30060766|PMID:32907597|PMID:9536098 8947018 Pomk protein O-mannose kinase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1602085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:17033958|PMID:19479962|PMID:28492532 8947018 Pomk protein O-mannose kinase gene DOID:0111959 immunodeficiency 15B ISO RGD:1602085 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8947018 Pomk protein O-mannose kinase gene DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ISO RGD:1602085 D RGD:7240710 20180130 OMIM 8947018 Pomk protein O-mannose kinase gene DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ISO RGD:1602085 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy due to POMK deficiency PMID:24556084|PMID:24925318|PMID:25741868|PMID:28492532|PMID:29910097|PMID:30060766 8947018 Pomk protein O-mannose kinase gene DOID:10908 hydrocephalus ISO RGD:1321928 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8947018 Pomk protein O-mannose kinase gene DOID:630 genetic disease ISO RGD:1602085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8947018 Pomk protein O-mannose kinase gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1602085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8947028 Gprin1 G protein regulated inducer of neurite outgrowth 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1606183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8947028 Gprin1 G protein regulated inducer of neurite outgrowth 1 gene DOID:14748 Sotos syndrome ISO RGD:1606183 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8947028 Gprin1 G protein regulated inducer of neurite outgrowth 1 gene DOID:630 genetic disease ISO RGD:1606183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947028 Gprin1 G protein regulated inducer of neurite outgrowth 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8947028 Gprin1 G protein regulated inducer of neurite outgrowth 1 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1606183 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8947040 Napepld N-acyl phosphatidylethanolamine phospholipase D gene DOID:12858 Huntington's disease ISO RGD:1615640 D RGD:9068941 20200609 RGD PMID:23659592|REF_RGD_ID:10412654 8947040 Napepld N-acyl phosphatidylethanolamine phospholipase D gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8947040 Napepld N-acyl phosphatidylethanolamine phospholipase D gene DOID:630 genetic disease ISO RGD:1603533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947040 Napepld N-acyl phosphatidylethanolamine phospholipase D gene DOID:8398 osteoarthritis ISO RGD:735197 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:20722027|REF_RGD_ID:10412653 8947040 Napepld N-acyl phosphatidylethanolamine phospholipase D gene DOID:9000039 Spinal Cord Injuries ISO RGD:735197 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:18930143|REF_RGD_ID:2316199 8947040 Napepld N-acyl phosphatidylethanolamine phospholipase D gene DOID:9007548 Leukoencephalomyelopathy ISO RGD:12345339 D RGD:9068941 20230824 OMIA Leukoencephalomyelopathy, NAPEPLD-related PMID:1429164|PMID:14510327|PMID:18371035|PMID:23531239|PMID:23690496|PMID:2735894|PMID:29643404|PMID:3727341|PMID:37582787|PMID:6730216 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:0050700 cardiomyopathy ISO RGD:1353173 D RGD:9068941 20231102 RGD protein:increased expression:heart (human) PMID:26098115|REF_RGD_ID:11053274 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1353173 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:0081292 traumatic brain injury treatment ISO RGD:1615702 D RGD:9068941 20231207 RGD PMID:36571365|REF_RGD_ID:401901253 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1353173 D RGD:7240710 20190315 OMIM 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1353173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 PMID:23033978|PMID:25741868|PMID:30256902|PMID:33463715 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:10825 essential hypertension susceptibility ISO RGD:1353173 D RGD:9068941 20231123 RGD DNA:SNP::g.12903725A>G (rs9349379) (human) PMID:34758666|REF_RGD_ID:401900745 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:12783 migraine without aura ISO RGD:1353173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:13099 Moyamoya disease disease_progression ISO RGD:1353173 D RGD:9068941 20231116 RGD DNA:missense mutation:CDS:c.13185159G>T (p.V265L) (human) PMID:32411507|REF_RGD_ID:401900691 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:1936 atherosclerosis exacerbates ISO RGD:1353173 D RGD:9068941 20231109 RGD mRNA:increased expression:carotid artery (human) PMID:36091033|REF_RGD_ID:401900131 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease ISO RGD:1353173 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:22751097|PMID:26098115|PMID:34961328 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease ISO RGD:1353173 D RGD:9068941 20231207 RGD DNA:hypermethylation, hypomethylation:promoter, exon: (human) PMID:31499127|REF_RGD_ID:401901251 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease sexual_dimorphism ISO RGD:1353173 D RGD:9068941 20231102 RGD DNA:SNP:intron:g.12903725A>G (rs9349379) (human) PMID:30777881|REF_RGD_ID:401851919 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353173 D RGD:9068941 20231109 RGD DNA:SNP:intron:g.12903957A>G (rs9349379) (human) PMID:27517945|REF_RGD_ID:401900135 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353173 D RGD:9068941 20231116 RGD DNA:SNPs:intron: (rs9381439, rs9349379) (human) PMID:27893421|REF_RGD_ID:401900688 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353173 D RGD:9068941 20231116 RGD associated with familial hypercholesterolemia;DNA:SNP:intron: (rs12526453) (human) PMID:29784573|REF_RGD_ID:401900687 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353173 D RGD:9068941 20231207 RGD DNA:SNP:exon: (rs4714955) (human) PMID:27066539|REF_RGD_ID:401901243 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:3526 cerebral infarction ISO RGD:1353173 D RGD:9068941 20231116 RGD DNA:SNP:intron: (rs12526453) (human) PMID:23042660|REF_RGD_ID:401900685 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:4248 coronary stenosis susceptibility ISO RGD:1353173 D RGD:9068941 20231116 RGD DNA:SNP::g.13011943A>G (rs9349379) (human) PMID:22745674|REF_RGD_ID:401900726 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:5419 schizophrenia ISO RGD:1353173 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction ISO RGD:1303187 D RGD:9068941 20231102 RGD mRNA, protein:decreased expression:heart left ventricle (rat) PMID:26098115|REF_RGD_ID:11053274 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction ISO RGD:1353173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198609|PMID:26098115 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction ISO RGD:1353173 D RGD:9068941 20231109 RGD mRNA:increased expression:peripheral blood mononuclear cells (human) PMID:33460763|REF_RGD_ID:401900171 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction no_association ISO RGD:1353173 D RGD:9068941 20231109 RGD DNA:SNPs:intron 3: (rs9349379, rs2026458, rs2876300) (human) PMID:33460763|REF_RGD_ID:401900171 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction severity ISO RGD:1353173 D RGD:9068941 20231116 RGD DNA:SNP:intron:(rs12526453) (human) PMID:26086777|REF_RGD_ID:11056926 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1353173 D RGD:9068941 20231102 RGD DNA:SNP:intron:g.13035530G>C (rs12526453) (human) PMID:19198609|REF_RGD_ID:401851907 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1353173 D RGD:9068941 20231116 RGD DNA:SNP:intron: (rs9369640) (human) PMID:25738804|REF_RGD_ID:11052994 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1353173 D RGD:9068941 20231116 RGD DNA:SNPs:multiple (human) PMID:25838425|REF_RGD_ID:11052493 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:630 genetic disease ISO RGD:1353173 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:6364 migraine ISO RGD:1353173 D RGD:9068941 20231207 RGD DNA:SNP:intron:g.13011943 (rs9349379) (human) PMID:27066539|PMID:28957430|REF_RGD_ID:401901172|REF_RGD_ID:401901243 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:1353173 D RGD:9068941 20231116 RGD mRNA:decreased expression:carotid artery segment (human) PMID:31980275|REF_RGD_ID:401900728 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9000528 Coronary Disease no_association ISO RGD:1353173 D RGD:9068941 20231130 RGD DNA:SNP:intron 3: (rs12526453) (human) PMID:28287809|REF_RGD_ID:401901081 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1353173 D RGD:9068941 20231207 RGD associated with type 2 diabetes mellitus;DNA:SNP:intron: (rs12526453) (human) PMID:22152955|REF_RGD_ID:11055500 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9001528 ARTERIAL DISSECTION susceptibility ISO RGD:1353173 D RGD:9068941 20231109 RGD DNA:SNP:intron:g.13,011,943 >G (rs9349379) (human) PMID:25420145|REF_RGD_ID:401900170 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9001686 Acute Coronary Syndrome exacerbates ISO RGD:1353173 D RGD:9068941 20231116 RGD protein:increased expression:monocyte (human) PMID:32857129|REF_RGD_ID:401900689 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9001829 Cerebrovascular Trauma ISO RGD:1353173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25420145 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9003785 Fibromuscular Dysplasia susceptibility ISO RGD:1353173 D RGD:9068941 20231116 RGD DNA:SNP:: (rs9349379) (human) PMID:32475314|REF_RGD_ID:401900690 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9003785 Fibromuscular Dysplasia susceptibility ISO RGD:1353173 D RGD:9068941 20231116 RGD DNA:SNPs:intron: (rs1332844, rs9369640, rs9349379) (human) PMID:27792790|REF_RGD_ID:401900294 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9005332 Spontaneous Coronary Artery Dissection ISO RGD:1353173 D RGD:9068941 20231130 RGD DNA:SNP:exon: (rs9349379) (human) PMID:32887874|PMID:33319763|REF_RGD_ID:401900725|REF_RGD_ID:401901175 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9005332 Spontaneous Coronary Artery Dissection susceptibility ISO RGD:1353173 D RGD:9068941 20231207 RGD DNA:SNP:intron 3: (rs9349379) (human) PMID:32374345|REF_RGD_ID:401901252 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9006778 Carotid Atherosclerosis severity ISO RGD:1353173 D RGD:9068941 20231109 RGD DNA:SNPs, haplotype:intron 3: (rs9349379, rs2026458, rs2876300) (human) PMID:31200082|REF_RGD_ID:401900133 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1353173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9008778 Coronary Artery Calcification ISO RGD:1353173 D RGD:9068941 20231130 RGD DNA:SNP:intron: (rs12526453) (human) PMID:23561647|REF_RGD_ID:11057923 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9008778 Coronary Artery Calcification ISO RGD:1353173 D RGD:9068941 20231207 RGD DNA:SNP:intron:g.13011943A>G (rs9349379) (human) PMID:23394302|PMID:26789557|REF_RGD_ID:11054804|REF_RGD_ID:11058683 8947055 Phactr1 phosphatase and actin regulator 1 gene DOID:9008778 Coronary Artery Calcification ISO RGD:1353173 D RGD:9068941 20231207 RGD associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human) PMID:34241534|REF_RGD_ID:401901247 8947086 Mtf2 metal response element binding transcription factor 2 gene DOID:630 genetic disease ISO RGD:1605093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947158 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:1059 intellectual disability ISO RGD:1322866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8947158 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1322866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8947158 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:1826 epilepsy ISO RGD:1322866 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8947158 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:630 genetic disease ISO RGD:1322866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947158 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005|PMID:20562527 8947158 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8947158 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1322866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8947158 Eef1b2 eukaryotic translation elongation factor 1 beta 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1322866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 8947168 Kif18a kinesin family member 18A gene DOID:10534 stomach cancer disease_progression ISO RGD:1352766 D RGD:9068941 20200609 RGD PMID:27215532|REF_RGD_ID:11554202 8947168 Kif18a kinesin family member 18A gene DOID:1059 intellectual disability ISO RGD:1352766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8947168 Kif18a kinesin family member 18A gene DOID:630 genetic disease ISO RGD:1352766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947168 Kif18a kinesin family member 18A gene DOID:684 hepatocellular carcinoma ISO RGD:1352766 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8947168 Kif18a kinesin family member 18A gene DOID:9256 colorectal cancer disease_progression ISO RGD:1352766 D RGD:9068941 20200609 RGD PMID:21213216|REF_RGD_ID:11554203 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:0050567 orofacial cleft ISO RGD:1321068 D RGD:9068941 20220825 MouseDO OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:0050691 branchiooculofacial syndrome ISO RGD:1321067 D RGD:7240710 20180725 OMIM 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:0050691 branchiooculofacial syndrome ISO RGD:1321067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome | ClinVar Annotator: match by term: Branchiooculofacial syndrome | ClinVar Annotator: match by term: TFAP2A-related condition PMID:10767004|PMID:18423521|PMID:19685247|PMID:19764023|PMID:20358615|PMID:20461149|PMID:21204207|PMID:21539471|PMID:21728810|PMID:22276601|PMID:22963965|PMID:23578821|PMID:25325184|PMID:25590586|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31829210|PMID:7747785 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:10376 amblyopia ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amblyopia PMID:25741868 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:10629 microphthalmia ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmos PMID:25741868 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:11364 lens subluxation ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lens subluxation PMID:25741868 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1321067 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:14752511|REF_RGD_ID:1578494 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:14702 branchiootorenal syndrome ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:30311386 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:557 kidney disease ISO RGD:1321067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19685247 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:630 genetic disease ISO RGD:1321067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19764023|PMID:20358615|PMID:20461149|PMID:21204207|PMID:22191992|PMID:22276601|PMID:22963965|PMID:23578821|PMID:25325184|PMID:25590586|PMID:25741868|PMID:27607113|PMID:28492532|PMID:31829210|PMID:7747785 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:9001575 IRIS COLOBOMA ISO RGD:1321067 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Iris coloboma PMID:25741868 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:9003133 Hypertelorism ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:9008296 Eye Abnormalities ISO RGD:1321067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19685247 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14534133|PMID:19685247 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1321067 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16204029 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:9650 pathologic nystagmus ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:25741868 8947207 Tfap2a transcription factor AP-2 alpha gene DOID:9840 esotropia ISO RGD:1321067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esotropia PMID:25741868 8947233 Flii FLII actin remodeling protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1316872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8947233 Flii FLII actin remodeling protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1316872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8947233 Flii FLII actin remodeling protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1316872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8947233 Flii FLII actin remodeling protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:1316872 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8947233 Flii FLII actin remodeling protein gene DOID:12849 autistic disorder ISO RGD:1316872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8947233 Flii FLII actin remodeling protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1316872 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10862770|PMID:20661277|PMID:25741868|PMID:32870709|PMID:37561591 8947233 Flii FLII actin remodeling protein gene DOID:630 genetic disease ISO RGD:1316872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947233 Flii FLII actin remodeling protein gene DOID:9001408 Dilated Cardiomyopathy 2J ISO RGD:1316872 D RGD:7240710 20231206 OMIM 8947233 Flii FLII actin remodeling protein gene DOID:9001408 Dilated Cardiomyopathy 2J ISO RGD:1316872 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2J PMID:10862770|PMID:20661277|PMID:25741868|PMID:32870709|PMID:37561591 8947233 Flii FLII actin remodeling protein gene DOID:9002189 High Myopia ISO RGD:1316872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8947233 Flii FLII actin remodeling protein gene DOID:9006836 Contracture ISO RGD:1316872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8947282 Srsf10 serine and arginine rich splicing factor 10 gene DOID:11612 polycystic ovary syndrome ISO RGD:1322327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8947282 Srsf10 serine and arginine rich splicing factor 10 gene DOID:4448 macular degeneration ISO RGD:1322327 D RGD:9068941 20200609 RGD protein:increased expression:retina (human) PMID:24098751|REF_RGD_ID:11038792 8947282 Srsf10 serine and arginine rich splicing factor 10 gene DOID:630 genetic disease ISO RGD:1322327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947282 Srsf10 serine and arginine rich splicing factor 10 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1322327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21072693 8947282 Srsf10 serine and arginine rich splicing factor 10 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322327 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8947282 Srsf10 serine and arginine rich splicing factor 10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21072693 8947304 Alyref Aly/REF export factor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1322669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8947304 Alyref Aly/REF export factor gene DOID:630 genetic disease ISO RGD:1322669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947317 Dnajc5g DnaJ heat shock protein family (Hsp40) member C5 gamma gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1316617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8947317 Dnajc5g DnaJ heat shock protein family (Hsp40) member C5 gamma gene DOID:630 genetic disease ISO RGD:1316617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:0050451 Brugada syndrome ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872634 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20001863 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:264 hemangiopericytoma ISO RGD:1354369 D RGD:9068941 20221110 RGD mRNA:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:3069 malignant astrocytoma ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:5199 ureteral obstruction ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:62 aortic valve disease ISO RGD:1553745 D RGD:9068941 20220825 MouseDO 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:630 genetic disease ISO RGD:1354369 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1553745 D RGD:9068941 20220825 MouseDO OMIM:187500 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:799 varicose veins ISO RGD:1354369 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:nucleus, vein: PMID:26808710|REF_RGD_ID:11529441 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:8947 diabetic retinopathy ISO RGD:1553745 D RGD:9068941 20221110 RGD mRNA:increased expression:retina: PMID:30787185|REF_RGD_ID:155663348 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621405 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 8947327 Hey2 hes related family bHLH transcription factor with YRPW motif 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1354369 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 8947337 Hrg histidine rich glycoprotein gene DOID:0060575 3MC syndrome 1 ISO RGD:736906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 8947337 Hrg histidine rich glycoprotein gene DOID:0060903 thrombosis ISO RGD:736906 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868|PMID:34355501 8947337 Hrg histidine rich glycoprotein gene DOID:0111903 thrombophilia due to HRG deficiency ISO RGD:736906 D RGD:7240710 20180130 OMIM 8947337 Hrg histidine rich glycoprotein gene DOID:0111903 thrombophilia due to HRG deficiency ISO RGD:736906 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency PMID:11057869|PMID:25741868|PMID:29108964|PMID:34355501|PMID:9414276 8947337 Hrg histidine rich glycoprotein gene DOID:2213 hemorrhagic disease ISO RGD:736906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8947337 Hrg histidine rich glycoprotein gene DOID:4074 pancreatic adenocarcinoma disease_progression ISO RGD:736906 D RGD:9068941 20200609 RGD PMID:21713765|REF_RGD_ID:11041886 8947337 Hrg histidine rich glycoprotein gene DOID:630 genetic disease ISO RGD:736906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947337 Hrg histidine rich glycoprotein gene DOID:9006778 Carotid Atherosclerosis disease_progression ISO RGD:736906 D RGD:9068941 20230601 RGD protein:increased expression:carotid artery segment (human) PMID:16774841|REF_RGD_ID:329845567 8947337 Hrg histidine rich glycoprotein gene DOID:9008939 Breast Neoplasms ISO RGD:736906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19552798 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1603610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20639879 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:630 genetic disease ISO RGD:1603610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1603610 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8947370 Mmel1 membrane metalloendopeptidase like 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8947406 Spo11 SPO11 initiator of meiotic double strand breaks gene DOID:0070168 spermatogenic failure 3 ISO RGD:1315081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 8947406 Spo11 SPO11 initiator of meiotic double strand breaks gene DOID:630 genetic disease ISO RGD:1315081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947428 LOC102007648 olfactory receptor 52B6 gene DOID:630 genetic disease ISO RGD:1351225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:0050855 renal fibrosis treatment ISO RGD:736290 D RGD:9068941 20200609 RGD associated with ureteral obstruction PMID:24844766|REF_RGD_ID:13506791 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:1074 kidney failure treatment ISO RGD:736290 D RGD:9068941 20200609 RGD associated with liver transplant; PMID:18929838|REF_RGD_ID:9685774 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:11383 cryptorchidism ISO RGD:61845 D RGD:9068941 20200609 RGD protein:decreased expression:male germ cell: PMID:17918708|REF_RGD_ID:9685739 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:1826 epilepsy ISO RGD:736290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:3021 acute kidney failure ISO RGD:61845 D RGD:9068941 20200609 RGD protein:increased expression:cortex of kidney,renal medulla: PMID:20030531|REF_RGD_ID:9685736 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:3021 acute kidney failure ISO RGD:736290 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20030531 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:3021 acute kidney failure treatment ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:20030531|REF_RGD_ID:9685736 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:5199 ureteral obstruction ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:24844766|REF_RGD_ID:13506791 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:630 genetic disease ISO RGD:736290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19409522|PMID:20593814|PMID:25269795|PMID:25326635|PMID:25741868|PMID:26018198|PMID:26944241|PMID:28155230|PMID:28492532|PMID:8627443 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:700 mitochondrial metabolism disease ISO RGD:736290 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:28492532|PMID:28812649|PMID:34732400 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9000238 Acute-On-Chronic Liver Failure disease_progression ISO RGD:736290 D RGD:9068941 20200609 RGD PMID:22246190|REF_RGD_ID:9685741 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9001708 Hemorrhagic Shock ISO RGD:62137 D RGD:9068941 20200609 RGD PMID:23073658|REF_RGD_ID:9685733 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9004283 Transplant Rejection ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:22819311|REF_RGD_ID:9685732 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9004484 Sepsis ISO RGD:61845 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23073658|REF_RGD_ID:9685733 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9004590 Acute Liver Failure ISO RGD:736290 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15968720 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9004590 Acute Liver Failure treatment ISO RGD:736290 D RGD:9068941 20200609 RGD PMID:23337881|REF_RGD_ID:9685775 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:736290 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15968720 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9005930 Endotoxemia ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:23073658|REF_RGD_ID:9685733 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:61845 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:20332418|REF_RGD_ID:9685723 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:736290 D RGD:9068941 20200609 RGD PMID:20332418|REF_RGD_ID:9685723 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:736290 D RGD:7240710 20180130 OMIM 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9007052 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay ISO RGD:736290 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay PMID:16199547|PMID:18414213|PMID:19409522|PMID:20593814|PMID:25269795|PMID:25326635|PMID:25741868|PMID:26018198|PMID:26757139|PMID:26944241|PMID:28155230|PMID:28492532|PMID:28812649|PMID:28939701|PMID:34732400|PMID:8627443 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:15968720|REF_RGD_ID:9685727 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:736290 D RGD:9068941 20200609 RGD PMID:22033404|REF_RGD_ID:9685722 8947432 Gfer growth factor, augmenter of liver regeneration gene DOID:9008691 Liver Injury ISO RGD:61845 D RGD:9068941 20200609 RGD PMID:24880092|REF_RGD_ID:9685725 8947445 Sgsm1 small G protein signaling modulator 1 gene DOID:630 genetic disease ISO RGD:1317805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:0050563 nonsyndromic deafness ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11907649|PMID:12920079|PMID:21786053|PMID:24033266|PMID:24526180|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31412945|PMID:34599368 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1320861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11137999|PMID:11424922|PMID:12920079|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30622556|PMID:34868270 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:0110527 autosomal recessive nonsyndromic deafness 8 ISO RGD:1320861 D RGD:7240710 20180130 OMIM 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:0110527 autosomal recessive nonsyndromic deafness 8 ISO RGD:1320861 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8 PMID:11137999|PMID:11424922|PMID:11462234|PMID:11907649|PMID:12393794|PMID:12920079|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:16524950|PMID:17551081|PMID:17576681|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22382023|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24416283|PMID:24526180|PMID:24657061|PMID:24853665|PMID:25262649|PMID:25474651|PMID:25741868|PMID:25770132|PMID:26036852|PMID:26346818|PMID:26408194|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27344577|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:28984810|PMID:29196752|PMID:29293505|PMID:29431110|PMID:29889784|PMID:30242206|PMID:30303587|PMID:30311386|PMID:30622556|PMID:31045651|PMID:31053783|PMID:31152317|PMID:31412945|PMID:31581539|PMID:31589614|PMID:31980526|PMID:32235586|PMID:32306631|PMID:3285355|PMID:32853555|PMID:32860223|PMID:34416374|PMID:34440452|PMID:34599368|PMID:34868270|PMID:35802133|PMID:35864128|PMID:36633841|PMID:9536098 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1320861 D RGD:9068941 20200609 RGD DFNB10, OMIM:605316, DFNB8 OMIM:601072 PMID:11137999|REF_RGD_ID:1599443 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:10316 pneumoconiosis ISO RGD:1320861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1320861 D RGD:9068941 20200609 RGD PMID:14695172|REF_RGD_ID:2325152 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:630 genetic disease ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11907649|PMID:15447792|PMID:16021470|PMID:16460646|PMID:19170735|PMID:21534946|PMID:21786053|PMID:24033266|PMID:25741868|PMID:26036852|PMID:26408194|PMID:26969326|PMID:28492532|PMID:28566687|PMID:29293505|PMID:30311386 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320861 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:9004538 Hearing Loss ISO RGD:1320861 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:11137999|PMID:11462234|PMID:11907649|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:17551081|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24526180|PMID:25262649|PMID:25741868|PMID:26036852|PMID:26408194|PMID:26969326|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29293505|PMID:29431110|PMID:30242206|PMID:30303587|PMID:30311386|PMID:30622556|PMID:31045651|PMID:31152317|PMID:31589614|PMID:31980526|PMID:34599368|PMID:34868270 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:9258 Waardenburg syndrome ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:9263 homocystinuria ISO RGD:1320861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8947481 Tmprss3 transmembrane serine protease 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320861 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8947506 Slc1a6 solute carrier family 1 member 6 gene DOID:630 genetic disease ISO RGD:732902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947534 Dmtn dematin actin binding protein gene DOID:630 genetic disease ISO RGD:1322873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947534 Dmtn dematin actin binding protein gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1322873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8947551 Dapk3 death associated protein kinase 3 gene DOID:13938 amenorrhea ISO RGD:731385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8947551 Dapk3 death associated protein kinase 3 gene DOID:630 genetic disease ISO RGD:731385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947569 Nms neuromedin S gene DOID:630 genetic disease ISO RGD:1604755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947583 Tmc2 transmembrane channel like 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320766 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8947583 Tmc2 transmembrane channel like 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8947583 Tmc2 transmembrane channel like 2 gene DOID:630 genetic disease ISO RGD:1320766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947606 Itpripl1 ITPRIP like 1 gene DOID:10283 prostate cancer ISO RGD:1603562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8947606 Itpripl1 ITPRIP like 1 gene DOID:1059 intellectual disability ISO RGD:1603562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8947606 Itpripl1 ITPRIP like 1 gene DOID:5419 schizophrenia ISO RGD:1603562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8947606 Itpripl1 ITPRIP like 1 gene DOID:630 genetic disease ISO RGD:1603562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947632 Fmn2 formin 2 gene DOID:0081211 autosomal recessive intellectual developmental disorder 47 ISO RGD:1345437 D RGD:7240710 20180130 OMIM 8947632 Fmn2 formin 2 gene DOID:0081211 autosomal recessive intellectual developmental disorder 47 ISO RGD:1345437 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 47 PMID:25741868|PMID:28492532 8947632 Fmn2 formin 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8947632 Fmn2 formin 2 gene DOID:1059 intellectual disability ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8947632 Fmn2 formin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8947632 Fmn2 formin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1345437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8947632 Fmn2 formin 2 gene DOID:630 genetic disease ISO RGD:1345437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8947632 Fmn2 formin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8947632 Fmn2 formin 2 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1345437 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 8947632 Fmn2 formin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8947656 Mrpl35 mitochondrial ribosomal protein L35 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1316034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8947656 Mrpl35 mitochondrial ribosomal protein L35 gene DOID:630 genetic disease ISO RGD:1316034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947656 Mrpl35 mitochondrial ribosomal protein L35 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1316034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 8947664 Chrna9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:733287 D RGD:9068941 20220128 RGD DNA:SNPs:multiples: PMID:22280835|REF_RGD_ID:151347453 8947664 Chrna9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:630 genetic disease ISO RGD:733287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947664 Chrna9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:733287 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8947664 Chrna9 cholinergic receptor nicotinic alpha 9 subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30259641 8947675 Sel1l3 SEL1L family member 3 gene DOID:630 genetic disease ISO RGD:1604048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947708 Npl N-acetylneuraminate pyruvate lyase gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8947708 Npl N-acetylneuraminate pyruvate lyase gene DOID:13580 cholestasis ISO RGD:1348386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8947708 Npl N-acetylneuraminate pyruvate lyase gene DOID:1540 parathyroid carcinoma ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8947708 Npl N-acetylneuraminate pyruvate lyase gene DOID:630 genetic disease ISO RGD:1348386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947708 Npl N-acetylneuraminate pyruvate lyase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8947708 Npl N-acetylneuraminate pyruvate lyase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8947729 Pcnx4 pecanex 4 gene DOID:630 genetic disease ISO RGD:1348042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318899 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1318899 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:10283 prostate cancer ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:1059 intellectual disability ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:11198 DiGeorge syndrome ISO RGD:1318899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:11372 megacolon ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:12583 velocardiofacial syndrome ISO RGD:1318899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:12849 autistic disorder ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:1826 epilepsy ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:2213 hemorrhagic disease ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:5419 schizophrenia ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:630 genetic disease ISO RGD:1318899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9003871 Venous Thrombosis ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8947755 Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:737195 D RGD:9068941 20200609 RGD PMID:12145210|REF_RGD_ID:1549449 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050861 colorectal adenocarcinoma ISO RGD:737195 D RGD:9068941 20220204 RGD protein:increased expression:colorectal mucosa (human) PMID:10874008|REF_RGD_ID:151347670 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:737195 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:737195 D RGD:9068941 20220204 RGD associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human) PMID:28155253|REF_RGD_ID:151347666 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0050990 episodic ataxia type 2 ISO RGD:737195 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:737195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:0111254 glutaric acidemia I ISO RGD:737195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:1909 melanoma treatment ISO RGD:737195 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:28976960|REF_RGD_ID:151347671 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:219 colon cancer ISO RGD:737195 D RGD:9068941 20220204 RGD RNA:decreased expression:colon (human) PMID:11751871|REF_RGD_ID:151347667 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3121 gallbladder cancer exacerbates ISO RGD:737195 D RGD:9068941 20220204 RGD protein:increased expression:gall bladder (human) PMID:26318166|REF_RGD_ID:11528126 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3413 alpha-mannosidosis ISO RGD:737195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3525 middle cerebral artery infarction ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737195 D RGD:9068941 20220204 RGD protein:increased expression:esophagus (human) PMID:19758438|REF_RGD_ID:151347672 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:737195 D RGD:9068941 20220204 RGD protein:increased expression:esophagus (human) PMID:30227324|REF_RGD_ID:151347669 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737195 D RGD:9068941 20220204 RGD RNA:increased expression:lung (human) PMID:29895215|REF_RGD_ID:151347665 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:3910 lung adenocarcinoma ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2944 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:5520 head and neck squamous cell carcinoma ameliorates ISO RGD:737195 D RGD:9068941 20220204 RGD human cell line in a mouse model PMID:26754630|REF_RGD_ID:11556098 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:737195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:8567 Hodgkin's lymphoma ISO RGD:737195 D RGD:9068941 20200609 RGD PMID:12145210|REF_RGD_ID:1549449 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289808|PMID:27935865 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9005873 Tongue Neoplasms ISO RGD:2944 D RGD:9068941 20200609 RGD protein:increased expression:tongue epithelium PMID:14674993|REF_RGD_ID:2293780 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9007102 Myocardial Ischemia ISO RGD:737195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9074 systemic lupus erythematosus ISO RGD:737196 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8947774 Junb JunB proto-oncogene, AP-1 transcription factor subunit gene DOID:9256 colorectal cancer ISO RGD:737195 D RGD:9068941 20220204 RGD associated with ulcerative colitis;protein:increased expression:colonic mucosa (human) PMID:33299340|REF_RGD_ID:151347858 8947792 Mllt11 MLLT11 transcription factor 7 cofactor gene DOID:0111940 immunodeficiency 42 ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8947792 Mllt11 MLLT11 transcription factor 7 cofactor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8947792 Mllt11 MLLT11 transcription factor 7 cofactor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8947792 Mllt11 MLLT11 transcription factor 7 cofactor gene DOID:1540 parathyroid carcinoma ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8947792 Mllt11 MLLT11 transcription factor 7 cofactor gene DOID:5812 MHC class II deficiency ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8947792 Mllt11 MLLT11 transcription factor 7 cofactor gene DOID:630 genetic disease ISO RGD:1605692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947792 Mllt11 MLLT11 transcription factor 7 cofactor gene DOID:8584 Burkitt lymphoma ISO RGD:1605692 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:31587870 8947792 Mllt11 MLLT11 transcription factor 7 cofactor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8947804 Rad23b RAD23 homolog B, nucleotide excision repair protein gene DOID:12336 male infertility ISO RGD:1351559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11809813 8947804 Rad23b RAD23 homolog B, nucleotide excision repair protein gene DOID:630 genetic disease ISO RGD:1351559 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8947804 Rad23b RAD23 homolog B, nucleotide excision repair protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8947804 Rad23b RAD23 homolog B, nucleotide excision repair protein gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11809813 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:0050851 glomerulosclerosis ISO RGD:1309804 D RGD:9068941 20200609 RGD PMID:24022426|REF_RGD_ID:7327155 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1320337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:1063 interstitial nephritis ISO RGD:1309804 D RGD:9068941 20200609 RGD PMID:24022426|REF_RGD_ID:7327155 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:10763 hypertension ISO RGD:1320337 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus Type 2; DNA:SNPs: : rs2296545,rs2576178 (human) PMID:21964580|REF_RGD_ID:7327172 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:10763 hypertension ISO RGD:1320337 D RGD:9068941 20200609 RGD associated with kidney Failure,Chronic;DNA:SNPs: : rs2576178, rs10887800 (human) PMID:21617193|REF_RGD_ID:7327173 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:10763 hypertension ISO RGD:1320338 D RGD:9068941 20200609 RGD PMID:21178975|REF_RGD_ID:7327174 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:10825 essential hypertension ISO RGD:1320337 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2576178, rs2296545,rs2114406 (human) PMID:17216203|REF_RGD_ID:7327177 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:6000 congestive heart failure ISO RGD:1309804 D RGD:9068941 20200609 RGD PMID:21297953|REF_RGD_ID:7327162 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:630 genetic disease ISO RGD:1320337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:783 end stage renal disease ISO RGD:1320337 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:28492532 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:784 chronic kidney disease ISO RGD:1309804 D RGD:9068941 20200609 RGD protein, activity:decreased expression:plasma, heart, kidney: PMID:18299506|REF_RGD_ID:7327164 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:9005539 Familial Prostate Cancer ISO RGD:1320337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1320337 D RGD:9068941 20200609 RGD PMID:23393318|REF_RGD_ID:7327166 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:9007096 Stroke ISO RGD:1320337 D RGD:9068941 20200609 RGD DNA:SNP: : rs10887800 (human) PMID:21964580|REF_RGD_ID:7327172 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1320337 D RGD:9068941 20200609 RGD PMID:21178975|REF_RGD_ID:7327174 8947817 Rnls renalase, FAD dependent amine oxidase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1320338 D RGD:9068941 20200609 RGD PMID:21178975|REF_RGD_ID:7327174 8947817 Rnls renalase, FAD-dependent amine oxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1320338 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:kidney,plasma: PMID:23393318|REF_RGD_ID:7327166 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346641 D RGD:7240710 20180130 OMIM 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1346641 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia PMID:21909114|PMID:21995386|PMID:23395771|PMID:25741868 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:25741868|PMID:26619011 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1346641 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:23395771|PMID:25741868 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1346641 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:26619011 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:1790 malignant mesothelioma ISO RGD:1346641 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:25741868|PMID:26619011 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:4450 renal cell carcinoma ISO RGD:1346641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:6039 uveal melanoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uveal melanoma PMID:25741868|PMID:26619011 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:630 genetic disease ISO RGD:1346641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:23634996|PMID:26619011 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346641 D RGD:9068941 20210423 RGD mRNA, protein:increased expression:liver PMID:33038489|REF_RGD_ID:126790494 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1346641 D RGD:9068941 20210423 RGD PMID:33038489|REF_RGD_ID:126790494 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1346641 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:23395771|PMID:25741868 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:8923 skin melanoma ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:23634996|PMID:25741868|PMID:26619011 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1346641 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:23634996|PMID:25741868|PMID:26619011 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1346641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:23634996|PMID:26619011 8947834 Sf3b1 splicing factor 3b subunit 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1346641 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:21909114|PMID:21995386|PMID:23395771|PMID:23634996|PMID:25741868|PMID:26619011 8947861 Xkr6 XK related 6 gene DOID:630 genetic disease ISO RGD:1321790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947861 Xkr6 XK related 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8947875 Slc18b1 solute carrier family 18 member B1 gene DOID:630 genetic disease ISO RGD:1315874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947897 CUNH13orf46 chromosome unknown C13orf46 homolog gene DOID:2222 factor X deficiency ISO RGD:13462007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:30311386 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110440 dilated cardiomyopathy 1J ISO RGD:1316090 D RGD:7240710 20180130 OMIM 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110440 dilated cardiomyopathy 1J ISO RGD:1316090 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dilated cardiomyopathy 1J PMID:10769282|PMID:11159937|PMID:15735644|PMID:16199547|PMID:17576681|PMID:23861362|PMID:23990876|PMID:24033266|PMID:25242383|PMID:25681523|PMID:25741868|PMID:25781927|PMID:25961296|PMID:25963406|PMID:26084686|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532|PMID:28767663|PMID:28798025|PMID:28831623|PMID:29030401|PMID:30123251|PMID:30165862|PMID:30311386|PMID:30828794|PMID:31163360|PMID:31333075|PMID:31568572|PMID:32107406|PMID:32277154|PMID:33745059|PMID:34426522|PMID:35026164|PMID:9536098 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110542 autosomal dominant nonsyndromic deafness 10 ISO RGD:1316090 D RGD:7240710 20180130 OMIM 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:0110542 autosomal dominant nonsyndromic deafness 10 ISO RGD:1316090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders PMID:11159937|PMID:15735644|PMID:16199547|PMID:17567890|PMID:17568404|PMID:17576681|PMID:23861362|PMID:23990876|PMID:24033266|PMID:25681523|PMID:25741868|PMID:25781927|PMID:25963406|PMID:27068579|PMID:28492532|PMID:28798025|PMID:29030401|PMID:30165862|PMID:30828794|PMID:32107406|PMID:32277154|PMID:33745059|PMID:35802133|PMID:36633841|PMID:9536098 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:10003 sensorineural hearing loss ISO RGD:1316090 D RGD:9068941 20200609 RGD DNA:deletion:introns, exon (human) PMID:15735644|REF_RGD_ID:1598455 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:10754 otitis media ISO RGD:1316091 D RGD:9068941 20220825 MouseDO OMIM:166760 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10769282|PMID:15735644|PMID:17567890|PMID:24033266 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:2661 myoepithelioma ISO RGD:1316090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor PMID:24033266|PMID:25741868|PMID:28492532 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:6000 congestive heart failure ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:630 genetic disease ISO RGD:1316090 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1316090 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9004538 Hearing Loss ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1316090 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1316090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 8947921 Eya4 EYA transcriptional coactivator and phosphatase 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 8947975 Ifnb1 interferon beta 1 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1552719 D RGD:9068941 20201211 RGD PMID:15670795|REF_RGD_ID:40902819 8947975 Ifnb1 interferon beta 1 gene DOID:0080599 Coronavirus infectious disease ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24323636 8947975 Ifnb1 interferon beta 1 gene DOID:0080600 COVID-19 treatment ISO RGD:736615 D RGD:9068941 20200618 RGD PMID:32401715|REF_RGD_ID:30296675 8947975 Ifnb1 interferon beta 1 gene DOID:0080642 Middle East respiratory syndrome disease_progression ISO RGD:1552719 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 8947975 Ifnb1 interferon beta 1 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:736615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 8947975 Ifnb1 interferon beta 1 gene DOID:0080767 autoimmune myocarditis ameliorates ISO RGD:1552719 D RGD:9068941 20231102 RGD PMID:15061762|REF_RGD_ID:401851923 8947975 Ifnb1 interferon beta 1 gene DOID:11054 urinary bladder cancer ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2297754 8947975 Ifnb1 interferon beta 1 gene DOID:1909 melanoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16928243|PMID:21846298 8947975 Ifnb1 interferon beta 1 gene DOID:2043 hepatitis B ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15994231 8947975 Ifnb1 interferon beta 1 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:2865 D RGD:9068941 20231102 RGD PMID:12973019|REF_RGD_ID:401851924 8947975 Ifnb1 interferon beta 1 gene DOID:2377 multiple sclerosis ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10520943|PMID:12424511|PMID:12432978|PMID:23517930|PMID:27806875 8947975 Ifnb1 interferon beta 1 gene DOID:2377 multiple sclerosis treatment ISO RGD:736615 D RGD:9068941 20231102 RGD PMID:15389896|REF_RGD_ID:401854232 8947975 Ifnb1 interferon beta 1 gene DOID:2671 transitional cell carcinoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2297754 8947975 Ifnb1 interferon beta 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1552719 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8947975 Ifnb1 interferon beta 1 gene DOID:2945 severe acute respiratory syndrome ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15200845|PMID:26861016 8947975 Ifnb1 interferon beta 1 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1552719 D RGD:9068941 20200702 RGD PMID:32553273|REF_RGD_ID:32716426 8947975 Ifnb1 interferon beta 1 gene DOID:3526 cerebral infarction no_association ISO RGD:2865 D RGD:9068941 20231102 RGD PMID:16514094|REF_RGD_ID:401854228 8947975 Ifnb1 interferon beta 1 gene DOID:3526 cerebral infarction susceptibility ISO RGD:736615 D RGD:9068941 20231102 RGD DNA:SNP,haplotype: rs9333358(human) PMID:31810024|REF_RGD_ID:401851921 8947975 Ifnb1 interferon beta 1 gene DOID:4359 amelanotic melanoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15990972 8947975 Ifnb1 interferon beta 1 gene DOID:4551 anus benign neoplasm ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12170190|PMID:12397731 8947975 Ifnb1 interferon beta 1 gene DOID:5419 schizophrenia ISO RGD:736615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8947975 Ifnb1 interferon beta 1 gene DOID:576 proteinuria ameliorates ISO RGD:2865 D RGD:9068941 20231104 RGD associated with nephritis, Puromycin Aminonucleoside Nephrosis PMID:17942968|REF_RGD_ID:401854238 8947975 Ifnb1 interferon beta 1 gene DOID:630 genetic disease ISO RGD:736615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947975 Ifnb1 interferon beta 1 gene DOID:768 retinoblastoma ameliorates ISO RGD:736615 D RGD:9068941 20231109 RGD PMID:19306089|REF_RGD_ID:401854248 8947975 Ifnb1 interferon beta 1 gene DOID:769 neuroblastoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16115947 8947975 Ifnb1 interferon beta 1 gene DOID:9000039 Spinal Cord Injuries ameliorates ISO RGD:2865 D RGD:9068941 20231104 RGD PMID:20109445|REF_RGD_ID:401854241 8947975 Ifnb1 interferon beta 1 gene DOID:9000039 Spinal Cord Injuries ameliorates ISO RGD:736615 D RGD:9068941 20231102 RGD PMID:17426631|REF_RGD_ID:401854235 8947975 Ifnb1 interferon beta 1 gene DOID:9000469 Viral Myocarditis exacerbates ISO RGD:1552719 D RGD:9068941 20231102 RGD associated with Coxsackievirus Infections PMID:15249500|REF_RGD_ID:401854229 8947975 Ifnb1 interferon beta 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2297754 8947975 Ifnb1 interferon beta 1 gene DOID:9002676 Cerebral Hemorrhage exacerbates ISO RGD:1552719 D RGD:9068941 20231102 RGD PMID:29301581|REF_RGD_ID:401854231 8947975 Ifnb1 interferon beta 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ameliorates ISO RGD:1552719 D RGD:9068941 20231104 RGD PMID:9578846|REF_RGD_ID:401854237 8947975 Ifnb1 interferon beta 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis exacerbates ISO RGD:2865 D RGD:9068941 20231104 RGD PMID:18997868|REF_RGD_ID:5147399 8947975 Ifnb1 interferon beta 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2865 D RGD:9068941 20231109 RGD PMID:19380780|PMID:8955226|REF_RGD_ID:401854246|REF_RGD_ID:401854247 8947975 Ifnb1 interferon beta 1 gene DOID:9004118 Experimental Melanoma ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16417267 8947975 Ifnb1 interferon beta 1 gene DOID:9006647 Experimental Autoimmune Neuritis ameliorates ISO RGD:2865 D RGD:9068941 20231104 RGD PMID:10494101|REF_RGD_ID:401854240 8947975 Ifnb1 interferon beta 1 gene DOID:9006778 Carotid Atherosclerosis ameliorates ISO RGD:1552719 D RGD:9068941 20231102 RGD PMID:17466308|REF_RGD_ID:401854230 8947975 Ifnb1 interferon beta 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18608205 8947975 Ifnb1 interferon beta 1 gene DOID:9009023 Aortic Remodeling ameliorates ISO RGD:1552719 D RGD:9068941 20231102 RGD PMID:17466308|REF_RGD_ID:401854230 8947975 Ifnb1 interferon beta 1 gene DOID:936 brain disease ISO RGD:736615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8615598 8947979 Pimreg PICALM interacting mitotic regulator gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 8947979 Pimreg PICALM interacting mitotic regulator gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1604005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8947979 Pimreg PICALM interacting mitotic regulator gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1604005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 8947979 Pimreg PICALM interacting mitotic regulator gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8947979 Pimreg PICALM interacting mitotic regulator gene DOID:0111010 cone-rod dystrophy 5 ISO RGD:1604005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 8947979 Pimreg PICALM interacting mitotic regulator gene DOID:630 genetic disease ISO RGD:1604005 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947989 Nsrp1 nuclear speckle splicing regulatory protein 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1604770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8947989 Nsrp1 nuclear speckle splicing regulatory protein 1 gene DOID:10907 microcephaly ISO RGD:1604770 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:34385670 8947989 Nsrp1 nuclear speckle splicing regulatory protein 1 gene DOID:1826 epilepsy ISO RGD:1604770 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:34385670 8947989 Nsrp1 nuclear speckle splicing regulatory protein 1 gene DOID:630 genetic disease ISO RGD:1604770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8947989 Nsrp1 nuclear speckle splicing regulatory protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:1604770 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spasticity PMID:34385670 8948004 Kif19 kinesin family member 19 gene DOID:630 genetic disease ISO RGD:1603919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948004 Kif19 kinesin family member 19 gene DOID:9008386 Hydrops Fetalis ISO RGD:1603919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 8948031 Lins1 lines homolog 1 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1602699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8948031 Lins1 lines homolog 1 gene DOID:0081193 autosomal recessive intellectual developmental disorder 27 ISO RGD:1602699 D RGD:7240710 20180130 OMIM 8948031 Lins1 lines homolog 1 gene DOID:0081193 autosomal recessive intellectual developmental disorder 27 ISO RGD:1602699 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 27 PMID:21937992|PMID:23773660|PMID:25741868|PMID:28492532|PMID:30090841|PMID:32499722|PMID:32802957 8948031 Lins1 lines homolog 1 gene DOID:1059 intellectual disability ISO RGD:1602699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8948031 Lins1 lines homolog 1 gene DOID:10907 microcephaly ISO RGD:1602699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8948031 Lins1 lines homolog 1 gene DOID:630 genetic disease ISO RGD:1602699 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8948031 Lins1 lines homolog 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8948042 Csf3 colony stimulating factor 3 gene DOID:0001816 angiosarcoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9774950 8948042 Csf3 colony stimulating factor 3 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11321886 8948042 Csf3 colony stimulating factor 3 gene DOID:0050852 limb ischemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:16224058|PMID:23294128|REF_RGD_ID:10400895|REF_RGD_ID:11039414 8948042 Csf3 colony stimulating factor 3 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11911406 8948042 Csf3 colony stimulating factor 3 gene DOID:0080000 muscular disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 8948042 Csf3 colony stimulating factor 3 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8602625 8948042 Csf3 colony stimulating factor 3 gene DOID:0080178 mucositis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17047649|PMID:7543699 8948042 Csf3 colony stimulating factor 3 gene DOID:0080600 COVID-19 ISO RGD:1350955 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 8948042 Csf3 colony stimulating factor 3 gene DOID:0080600 COVID-19 severity ISO RGD:1350955 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 8948042 Csf3 colony stimulating factor 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1350955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8948042 Csf3 colony stimulating factor 3 gene DOID:10247 pleurisy ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:8841835|REF_RGD_ID:11039424 8948042 Csf3 colony stimulating factor 3 gene DOID:11054 urinary bladder cancer ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17515069|PMID:7525883 8948042 Csf3 colony stimulating factor 3 gene DOID:114 heart disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19429242 8948042 Csf3 colony stimulating factor 3 gene DOID:11450 allergic cutaneous vasculitis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Severe Congenital Neutropenia; PMID:20100783|REF_RGD_ID:11039037 8948042 Csf3 colony stimulating factor 3 gene DOID:12010 anterior ischemic optic neuropathy treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:24316388|REF_RGD_ID:11039419 8948042 Csf3 colony stimulating factor 3 gene DOID:1227 neutropenia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11712802|PMID:12085204|PMID:12884814|PMID:12926135|PMID:15585077|PMID:16761898|PMID:27737899|PMID:7524159|PMID:7529132|PMID:7543699|PMID:7688884|PMID:9740541|PMID:9774950 8948042 Csf3 colony stimulating factor 3 gene DOID:1227 neutropenia ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:10654961|REF_RGD_ID:11039039 8948042 Csf3 colony stimulating factor 3 gene DOID:12449 aplastic anemia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10544668|PMID:10629575|PMID:15863969|PMID:1642096|PMID:16553037|PMID:9777751 8948042 Csf3 colony stimulating factor 3 gene DOID:12450 pancytopenia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17505274|PMID:9051142 8948042 Csf3 colony stimulating factor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17334414 8948042 Csf3 colony stimulating factor 3 gene DOID:12987 agranulocytosis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15999287 8948042 Csf3 colony stimulating factor 3 gene DOID:13250 diarrhea ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 8948042 Csf3 colony stimulating factor 3 gene DOID:1561 cognitive disorder treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Status Epilepticus; PMID:20410588|REF_RGD_ID:11039464 8948042 Csf3 colony stimulating factor 3 gene DOID:1588 thrombocytopenia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12085204|PMID:7543699 8948042 Csf3 colony stimulating factor 3 gene DOID:1596 depressive disorder ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9018096 8948042 Csf3 colony stimulating factor 3 gene DOID:1679 cystitis ISO RGD:2426 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18848347|REF_RGD_ID:2317284 8948042 Csf3 colony stimulating factor 3 gene DOID:1909 melanoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16120623|PMID:16260693 8948042 Csf3 colony stimulating factor 3 gene DOID:1967 leiomyosarcoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9774950 8948042 Csf3 colony stimulating factor 3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:12624302|REF_RGD_ID:10450512 8948042 Csf3 colony stimulating factor 3 gene DOID:2316 brain ischemia ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18832793|REF_RGD_ID:2311241 8948042 Csf3 colony stimulating factor 3 gene DOID:2355 anemia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12085204|PMID:16076697|PMID:17047649 8948042 Csf3 colony stimulating factor 3 gene DOID:2671 transitional cell carcinoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7525883|PMID:7543010 8948042 Csf3 colony stimulating factor 3 gene DOID:2741 bilirubin metabolic disorder ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8602625 8948042 Csf3 colony stimulating factor 3 gene DOID:2841 asthma ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:21396376|REF_RGD_ID:5133731 8948042 Csf3 colony stimulating factor 3 gene DOID:2841 asthma ISO RGD:731416 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20405019|REF_RGD_ID:5131473 8948042 Csf3 colony stimulating factor 3 gene DOID:305 carcinoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9018096 8948042 Csf3 colony stimulating factor 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:2426 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain: PMID:15530654|REF_RGD_ID:11039425 8948042 Csf3 colony stimulating factor 3 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:19298757|REF_RGD_ID:11039420 8948042 Csf3 colony stimulating factor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17894541 8948042 Csf3 colony stimulating factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7692001 8948042 Csf3 colony stimulating factor 3 gene DOID:409 liver disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19429242 8948042 Csf3 colony stimulating factor 3 gene DOID:5409 lung small cell carcinoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9093707 8948042 Csf3 colony stimulating factor 3 gene DOID:557 kidney disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19429242 8948042 Csf3 colony stimulating factor 3 gene DOID:574 peripheral nervous system disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9740541 8948042 Csf3 colony stimulating factor 3 gene DOID:5844 myocardial infarction treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:15639484|REF_RGD_ID:11039417 8948042 Csf3 colony stimulating factor 3 gene DOID:6000 congestive heart failure ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15585077 8948042 Csf3 colony stimulating factor 3 gene DOID:615 leukopenia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16076697|PMID:16120623|PMID:16937080|PMID:7543699 8948042 Csf3 colony stimulating factor 3 gene DOID:630 genetic disease ISO RGD:1350955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948042 Csf3 colony stimulating factor 3 gene DOID:6432 pulmonary hypertension ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:12524378|REF_RGD_ID:11039539 8948042 Csf3 colony stimulating factor 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:17186992|REF_RGD_ID:11039432 8948042 Csf3 colony stimulating factor 3 gene DOID:707 B-cell lymphoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11042651 8948042 Csf3 colony stimulating factor 3 gene DOID:77 gastrointestinal system disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17047649 8948042 Csf3 colony stimulating factor 3 gene DOID:8472 localized scleroderma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15863969 8948042 Csf3 colony stimulating factor 3 gene DOID:850 lung disease ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Hyperoxia PMID:21155037|REF_RGD_ID:5133732 8948042 Csf3 colony stimulating factor 3 gene DOID:850 lung disease ISO RGD:2426 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic;protein:increased expression:bronchus epithelium PMID:9374735|REF_RGD_ID:5133737 8948042 Csf3 colony stimulating factor 3 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17562247 8948042 Csf3 colony stimulating factor 3 gene DOID:863 nervous system disease ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17047649 8948042 Csf3 colony stimulating factor 3 gene DOID:8692 myeloid leukemia disease_progression ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:7510191|REF_RGD_ID:11039040 8948042 Csf3 colony stimulating factor 3 gene DOID:874 bacterial pneumonia disease_progression ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:21373266|REF_RGD_ID:5133733 8948042 Csf3 colony stimulating factor 3 gene DOID:874 bacterial pneumonia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Peritonitis; PMID:12352049|REF_RGD_ID:11039437 8948042 Csf3 colony stimulating factor 3 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:21953623|REF_RGD_ID:10450511 8948042 Csf3 colony stimulating factor 3 gene DOID:9000040 Hypertrophy ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18785976 8948042 Csf3 colony stimulating factor 3 gene DOID:9000046 Poisoning ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15727166 8948042 Csf3 colony stimulating factor 3 gene DOID:9000053 Headache ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10864982 8948042 Csf3 colony stimulating factor 3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:16689657|REF_RGD_ID:11039462 8948042 Csf3 colony stimulating factor 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7692001 8948042 Csf3 colony stimulating factor 3 gene DOID:9000242 Lymphoma, AIDS-Related ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12176798 8948042 Csf3 colony stimulating factor 3 gene DOID:9000310 Lung Injury ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:14585735|REF_RGD_ID:11039441 8948042 Csf3 colony stimulating factor 3 gene DOID:9000641 Pain ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10864982|PMID:7541186|PMID:8622042 8948042 Csf3 colony stimulating factor 3 gene DOID:9000784 Fibrosis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18785976|PMID:20005281 8948042 Csf3 colony stimulating factor 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7543699|PMID:9018096 8948042 Csf3 colony stimulating factor 3 gene DOID:9000972 Fever ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9740541 8948042 Csf3 colony stimulating factor 3 gene DOID:9000998 Brain Injuries ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8948042 Csf3 colony stimulating factor 3 gene DOID:9000998 Brain Injuries treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:24239694|REF_RGD_ID:11039431 8948042 Csf3 colony stimulating factor 3 gene DOID:9001039 Leukocytosis ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with neoplasms; PMID:18756972|REF_RGD_ID:11039421 8948042 Csf3 colony stimulating factor 3 gene DOID:9001049 Staphylococcal Pneumonia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:10228098|REF_RGD_ID:11039478 8948042 Csf3 colony stimulating factor 3 gene DOID:9001142 Drug-Induced Agranulocytosis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Graves Disease; PMID:15785251|REF_RGD_ID:11039034 8948042 Csf3 colony stimulating factor 3 gene DOID:9001142 Drug-Induced Agranulocytosis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Multiple Myeloma; PMID:8935143|REF_RGD_ID:11039041 8948042 Csf3 colony stimulating factor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15661404 8948042 Csf3 colony stimulating factor 3 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12926135|PMID:17334414 8948042 Csf3 colony stimulating factor 3 gene DOID:9002174 Disease Susceptibility ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20026017 8948042 Csf3 colony stimulating factor 3 gene DOID:9002211 Hyperalgesia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; PMID:24253780|REF_RGD_ID:11039470 8948042 Csf3 colony stimulating factor 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:12742377|REF_RGD_ID:11039465 8948042 Csf3 colony stimulating factor 3 gene DOID:9002641 Bone Marrow Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20026017 8948042 Csf3 colony stimulating factor 3 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:19169816|REF_RGD_ID:11039433 8948042 Csf3 colony stimulating factor 3 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Myocardial Infarction; PMID:18676396|REF_RGD_ID:11039480 8948042 Csf3 colony stimulating factor 3 gene DOID:9003199 Systemic Vasculitis ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:23087180|REF_RGD_ID:11039411 8948042 Csf3 colony stimulating factor 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8948042 Csf3 colony stimulating factor 3 gene DOID:9003491 Enterobacteriaceae Infections ISO RGD:2426 D RGD:9068941 20200609 RGD PMID:9835289|REF_RGD_ID:11039473 8948042 Csf3 colony stimulating factor 3 gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1350955 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23087180|REF_RGD_ID:11039411 8948042 Csf3 colony stimulating factor 3 gene DOID:9004268 Uterine Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9774950 8948042 Csf3 colony stimulating factor 3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:18589159|REF_RGD_ID:11039422 8948042 Csf3 colony stimulating factor 3 gene DOID:9004464 Skin Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9774950 8948042 Csf3 colony stimulating factor 3 gene DOID:9004484 Sepsis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17505274 8948042 Csf3 colony stimulating factor 3 gene DOID:9004484 Sepsis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:8706460|REF_RGD_ID:11039434 8948042 Csf3 colony stimulating factor 3 gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; PMID:17660602|REF_RGD_ID:11039036 8948042 Csf3 colony stimulating factor 3 gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD associated with Leukemia, Hairy Cell; PMID:2461131|REF_RGD_ID:11039035 8948042 Csf3 colony stimulating factor 3 gene DOID:9004590 Acute Liver Failure ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21550386 8948042 Csf3 colony stimulating factor 3 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:18756972|PMID:21550386|REF_RGD_ID:11039421|REF_RGD_ID:11039537 8948042 Csf3 colony stimulating factor 3 gene DOID:9005532 Muscle Weakness ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8622042 8948042 Csf3 colony stimulating factor 3 gene DOID:9005600 Infarction ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15135374 8948042 Csf3 colony stimulating factor 3 gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20026017 8948042 Csf3 colony stimulating factor 3 gene DOID:9005930 Endotoxemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:9514298|REF_RGD_ID:11039535 8948042 Csf3 colony stimulating factor 3 gene DOID:9006065 Arthralgia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 8948042 Csf3 colony stimulating factor 3 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7692001 8948042 Csf3 colony stimulating factor 3 gene DOID:9006182 Carotid Artery Injuries ISO RGD:2426 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell: PMID:15385271|REF_RGD_ID:11039423 8948042 Csf3 colony stimulating factor 3 gene DOID:9006205 Animal Disease Models ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27737899 8948042 Csf3 colony stimulating factor 3 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1350955 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27737899|PMID:31557154|PMID:7692001 8948042 Csf3 colony stimulating factor 3 gene DOID:9007096 Stroke ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:17656664|REF_RGD_ID:5134350 8948042 Csf3 colony stimulating factor 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9018096 8948042 Csf3 colony stimulating factor 3 gene DOID:9007367 Septic Peritonitis treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:8656607|REF_RGD_ID:11039538 8948042 Csf3 colony stimulating factor 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20005281 8948042 Csf3 colony stimulating factor 3 gene DOID:9007429 Soft Tissue Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7543699 8948042 Csf3 colony stimulating factor 3 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:9117128|REF_RGD_ID:11039476 8948042 Csf3 colony stimulating factor 3 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:20144610|REF_RGD_ID:11039471 8948042 Csf3 colony stimulating factor 3 gene DOID:9008232 Neutrophilia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:2475183|REF_RGD_ID:11039032 8948042 Csf3 colony stimulating factor 3 gene DOID:9008625 Somatosensory Disorders ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7543699 8948042 Csf3 colony stimulating factor 3 gene DOID:9008691 Liver Injury treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:8864679|REF_RGD_ID:11039467 8948042 Csf3 colony stimulating factor 3 gene DOID:9008885 Staphylococcal Infections ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27737899 8948042 Csf3 colony stimulating factor 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12926135|PMID:16076697|PMID:16298037|PMID:17047649|PMID:7541186|PMID:7543699|PMID:7692001|PMID:9018096 8948042 Csf3 colony stimulating factor 3 gene DOID:9119 acute myeloid leukemia ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7528855 8948042 Csf3 colony stimulating factor 3 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:10673519|REF_RGD_ID:11039033 8948042 Csf3 colony stimulating factor 3 gene DOID:9538 multiple myeloma ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7534716|PMID:7540856 8948042 Csf3 colony stimulating factor 3 gene DOID:9637 stomatitis ISO RGD:1350955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12085204 8948042 Csf3 colony stimulating factor 3 gene DOID:9675 pulmonary emphysema treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:19537526|REF_RGD_ID:11039438 8948042 Csf3 colony stimulating factor 3 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1350955 D RGD:9068941 20200609 RGD PMID:9250830|REF_RGD_ID:11039038 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1354126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1354126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:1596 depressive disorder ISO RGD:1354126 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21871532 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:1596 depressive disorder susceptibility ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:16906152|REF_RGD_ID:9831184 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:1826 epilepsy susceptibility ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:15175651|REF_RGD_ID:9831121 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia ISO RGD:621448 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:25062759|REF_RGD_ID:9831122 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia severity ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:15175651|REF_RGD_ID:9831121 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:621448 D RGD:9068941 20200609 RGD PMID:24154701|REF_RGD_ID:9831178 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:2316 brain ischemia ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:14741413|REF_RGD_ID:9831127 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:5844 myocardial infarction ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle, epicardium, endocardium (rat) PMID:21683547|REF_RGD_ID:9831182 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:6000 congestive heart failure ISO RGD:621448 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary:mRNA:decreased expression:heart right ventricle (rat) PMID:25016242|REF_RGD_ID:9831185 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:630 genetic disease ISO RGD:1354126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621448 D RGD:9068941 20200609 RGD PMID:22425721|REF_RGD_ID:9831183 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:9002211 Hyperalgesia ISO RGD:732064 D RGD:9068941 20200609 RGD PMID:16675954|REF_RGD_ID:9831112 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621448 D RGD:9068941 20200609 RGD protein:increased expression:endocardium of left ventricle (rat) PMID:23232841|REF_RGD_ID:9831114 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:9005372 Inflammation ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:decreased expression:dorsal root ganglia (rat) PMID:22273507|REF_RGD_ID:9831113 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:621448 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, epicardium, endocardium (rat) PMID:24705172|REF_RGD_ID:9831164 8948078 Kcnk2 potassium two pore domain channel subfamily K member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:0050573 2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 2-hydroxyglutaric aciduria PMID:23393310|PMID:23561848|PMID:25741868|PMID:28492532|PMID:29238895|PMID:9031613 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1343333 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1343333 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:7240710 20200205 OMIM 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria ISO RGD:1343333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: D,L-2-hydroxyglutaric aciduria PMID:23393310|PMID:23561848|PMID:25741868|PMID:28492532|PMID:29031613|PMID:29238895|PMID:9031613 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:1343333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:1059 intellectual disability ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1343333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:11372 megacolon ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1343333 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:12849 autistic disorder ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:1826 epilepsy ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:5419 schizophrenia ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:630 genetic disease ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1343333 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:9009245 Congenital Myasthenic Syndrome 23 ISO RGD:1343333 D RGD:7240710 20190315 OMIM 8948111 Slc25a1 solute carrier family 25 member 1 gene DOID:9009245 Congenital Myasthenic Syndrome 23 ISO RGD:1343333 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 23, presynaptic | ClinVar Annotator: match by term: SLC25A1-related condition PMID:25741868|PMID:26870663|PMID:31527857|PMID:31808147 8948124 Tmem120b transmembrane protein 120B gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1626589 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex PMID:25741868 8948124 Tmem120b transmembrane protein 120B gene DOID:630 genetic disease ISO RGD:1626589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948143 Nkg7 natural killer cell granule protein 7 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1347836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 8948143 Nkg7 natural killer cell granule protein 7 gene DOID:630 genetic disease ISO RGD:1347836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948157 Sdc1 syndecan 1 gene DOID:0080600 COVID-19 ISO RGD:730864 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8948157 Sdc1 syndecan 1 gene DOID:1168 familial hyperlipidemia ISO RGD:3648 D RGD:9068941 20200609 RGD PMID:17403197|REF_RGD_ID:1643125 8948157 Sdc1 syndecan 1 gene DOID:1790 malignant mesothelioma ISO RGD:730864 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 8948157 Sdc1 syndecan 1 gene DOID:2843 long QT syndrome ISO RGD:730864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8948157 Sdc1 syndecan 1 gene DOID:3910 lung adenocarcinoma ISO RGD:730864 D RGD:9068941 20220812 RGD mRNA:increased expression:lung (human) PMID:23374247|REF_RGD_ID:151708716 8948157 Sdc1 syndecan 1 gene DOID:4195 hyperglycemia ISO RGD:730864 D RGD:9068941 20200609 RGD protein:decreased expression:blood vessel endothelial cell PMID:16810465|REF_RGD_ID:1643127 8948157 Sdc1 syndecan 1 gene DOID:576 proteinuria ISO RGD:3648 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus PMID:16622173|REF_RGD_ID:1643128 8948157 Sdc1 syndecan 1 gene DOID:5844 myocardial infarction ISO RGD:3648 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:9237025|REF_RGD_ID:2311712 8948157 Sdc1 syndecan 1 gene DOID:630 genetic disease ISO RGD:730864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948157 Sdc1 syndecan 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:730864 D RGD:9068941 20200609 RGD protein:altered expression:tumor (human) PMID:9746758|REF_RGD_ID:9743928 8948157 Sdc1 syndecan 1 gene DOID:9000242 Lymphoma, AIDS-Related ISO RGD:730864 D RGD:9068941 20200609 RGD protein:altered expression:tumor (human) PMID:11157493|REF_RGD_ID:9743929 8948157 Sdc1 syndecan 1 gene DOID:9005372 Inflammation ISO RGD:3648 D RGD:9068941 20200609 RGD protein:decreased glycosylation:gastrointestinal system mesentery, venule PMID:14704229|REF_RGD_ID:1643133 8948157 Sdc1 syndecan 1 gene DOID:9970 obesity ISO RGD:3648 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11522680|REF_RGD_ID:1643129 8948170 LOC102015143 chromosome unknown open reading frame, human C1orf50 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350429 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8948170 LOC102015143 chromosome unknown open reading frame, human C1orf50 gene DOID:630 genetic disease ISO RGD:1350429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948179 Phrf1 PHD and ring finger domains 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8948179 Phrf1 PHD and ring finger domains 1 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1605972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8948179 Phrf1 PHD and ring finger domains 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1605972 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8948179 Phrf1 PHD and ring finger domains 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8948179 Phrf1 PHD and ring finger domains 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8948179 Phrf1 PHD and ring finger domains 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8948179 Phrf1 PHD and ring finger domains 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1605972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8948179 Phrf1 PHD and ring finger domains 1 gene DOID:630 genetic disease ISO RGD:1605972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948179 Phrf1 PHD and ring finger domains 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1605972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204446 8948217 Mki67 marker of proliferation Ki-67 gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:20919850|REF_RGD_ID:6483541 8948217 Mki67 marker of proliferation Ki-67 gene DOID:0050868 hepatocellular adenoma ISO RGD:1313525 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:31939706 8948217 Mki67 marker of proliferation Ki-67 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1313525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8948217 Mki67 marker of proliferation Ki-67 gene DOID:0080178 mucositis ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:21846355|REF_RGD_ID:5509078 8948217 Mki67 marker of proliferation Ki-67 gene DOID:0080600 COVID-19 ISO RGD:1313525 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8948217 Mki67 marker of proliferation Ki-67 gene DOID:0081267 graft-versus-host disease ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21440078|REF_RGD_ID:6483534 8948217 Mki67 marker of proliferation Ki-67 gene DOID:10286 prostate carcinoma ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22268182|REF_RGD_ID:6483545 8948217 Mki67 marker of proliferation Ki-67 gene DOID:10534 stomach cancer treatment ISO RGD:1313525 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 8948217 Mki67 marker of proliferation Ki-67 gene DOID:11054 urinary bladder cancer ISO RGD:1305476 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:20367636|REF_RGD_ID:2317708 8948217 Mki67 marker of proliferation Ki-67 gene DOID:1227 neutropenia ISO RGD:1313525 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:22092365|REF_RGD_ID:6483522 8948217 Mki67 marker of proliferation Ki-67 gene DOID:12365 malaria ISO RGD:1313526 D RGD:9068941 20200609 RGD associated with Lung Neoplasms PMID:21931708|REF_RGD_ID:6483517 8948217 Mki67 marker of proliferation Ki-67 gene DOID:127 leiomyoma ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22302692|REF_RGD_ID:6483544 8948217 Mki67 marker of proliferation Ki-67 gene DOID:1324 lung cancer ameliorates ISO RGD:1313525 D RGD:9068941 20220901 RGD human cells in mouse model PMID:29183007|REF_RGD_ID:153344580 8948217 Mki67 marker of proliferation Ki-67 gene DOID:13949 interstitial cystitis ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21166752|REF_RGD_ID:6483539 8948217 Mki67 marker of proliferation Ki-67 gene DOID:1574 alcohol use disorder ISO RGD:1305476 D RGD:9068941 20231221 RGD mRNA:decreased expression:hippocampus (rat) PMID:30277635|REF_RGD_ID:401938665 8948217 Mki67 marker of proliferation Ki-67 gene DOID:1612 breast cancer ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21880954|REF_RGD_ID:6483528 8948217 Mki67 marker of proliferation Ki-67 gene DOID:1612 breast cancer disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:22004841|REF_RGD_ID:6483516 8948217 Mki67 marker of proliferation Ki-67 gene DOID:1793 pancreatic cancer ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:20137856|REF_RGD_ID:2317704 8948217 Mki67 marker of proliferation Ki-67 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20350215|REF_RGD_ID:2317703 8948217 Mki67 marker of proliferation Ki-67 gene DOID:219 colon cancer treatment ISO RGD:1305476 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 8948217 Mki67 marker of proliferation Ki-67 gene DOID:2843 long QT syndrome ISO RGD:1313525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8948217 Mki67 marker of proliferation Ki-67 gene DOID:299 adenocarcinoma ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 8948217 Mki67 marker of proliferation Ki-67 gene DOID:3042 allergic contact dermatitis ISO RGD:1313526 D RGD:9068941 20200609 RGD PMID:21294775|REF_RGD_ID:6483538 8948217 Mki67 marker of proliferation Ki-67 gene DOID:3070 high grade glioma ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22262719|REF_RGD_ID:6483547 8948217 Mki67 marker of proliferation Ki-67 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1313525 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31205511|PMID:32276600|REF_RGD_ID:151357000|REF_RGD_ID:153344584 8948217 Mki67 marker of proliferation Ki-67 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1313525 D RGD:9068941 20220721 RGD protein:altered expression:lung (human) PMID:26942465|REF_RGD_ID:152999419 8948217 Mki67 marker of proliferation Ki-67 gene DOID:4545 mesenchymal chondrosarcoma ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12817616 8948217 Mki67 marker of proliferation Ki-67 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:12903495|REF_RGD_ID:2317705 8948217 Mki67 marker of proliferation Ki-67 gene DOID:5031 adult pineal parenchymal tumor severity ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21696422|REF_RGD_ID:6483520 8948217 Mki67 marker of proliferation Ki-67 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21576701|REF_RGD_ID:6483531 8948217 Mki67 marker of proliferation Ki-67 gene DOID:557 kidney disease ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22017545|REF_RGD_ID:6483553 8948217 Mki67 marker of proliferation Ki-67 gene DOID:574 peripheral nervous system disease ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 8948217 Mki67 marker of proliferation Ki-67 gene DOID:630 genetic disease ISO RGD:1313525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8948217 Mki67 marker of proliferation Ki-67 gene DOID:684 hepatocellular carcinoma ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8948217 Mki67 marker of proliferation Ki-67 gene DOID:687 hepatoblastoma ameliorates ISO RGD:1313525 D RGD:9068941 20220825 RGD human cells in mouse model PMID:31541079|REF_RGD_ID:153344539 8948217 Mki67 marker of proliferation Ki-67 gene DOID:8719 in situ carcinoma ISO RGD:1313525 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:pancreas PMID:20350215|REF_RGD_ID:2317703 8948217 Mki67 marker of proliferation Ki-67 gene DOID:8778 Crohn's disease ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21364546|REF_RGD_ID:6483536 8948217 Mki67 marker of proliferation Ki-67 gene DOID:8893 psoriasis ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10384915 8948217 Mki67 marker of proliferation Ki-67 gene DOID:8893 psoriasis ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:22499302|REF_RGD_ID:6483515 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9000918 Disease Progression ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313525 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:20388395|REF_RGD_ID:2317702 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21442130 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9002928 Colonic Neoplasms ISO RGD:1313526 D RGD:9068941 20200609 RGD PMID:22070864|REF_RGD_ID:6483523 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:9869516|REF_RGD_ID:2317706 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9005372 Inflammation ISO RGD:1313525 D RGD:9068941 20200609 RGD associated with Common Variable Immunodeficiency PMID:21536322|REF_RGD_ID:6483533 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9007533 Hantavirus Infections ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21795350|REF_RGD_ID:6483519 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1305476 D RGD:9068941 20200609 RGD PMID:22405128|REF_RGD_ID:6483543 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12645814 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9008510 Chronic Hepatitis ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9008939 Breast Neoplasms ISO RGD:1313525 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15706428|PMID:18768436|PMID:19436038 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9074 systemic lupus erythematosus ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:21693493|REF_RGD_ID:6483529 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9206 Barrett's esophagus severity ISO RGD:1313525 D RGD:9068941 20200609 RGD PMID:22147251|REF_RGD_ID:6483521 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9256 colorectal cancer ameliorates ISO RGD:1313525 D RGD:9068941 20220908 RGD human cells in mouse model PMID:34974791|REF_RGD_ID:153344629 8948217 Mki67 marker of proliferation Ki-67 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1305476 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:20045412|REF_RGD_ID:2317709 8948256 Cadm1 cell adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:1322220 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:12079507|REF_RGD_ID:2289091 8948256 Cadm1 cell adhesion molecule 1 gene DOID:1059 intellectual disability ISO RGD:1322220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8948256 Cadm1 cell adhesion molecule 1 gene DOID:12849 autistic disorder ISO RGD:1322220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18957284 8948256 Cadm1 cell adhesion molecule 1 gene DOID:1596 depressive disorder ISO RGD:1322220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22113448 8948256 Cadm1 cell adhesion molecule 1 gene DOID:3459 breast carcinoma severity ISO RGD:1322220 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:17260099|REF_RGD_ID:2289088 8948256 Cadm1 cell adhesion molecule 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1310999 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:promoter:liver PMID:16814249|REF_RGD_ID:2289096 8948256 Cadm1 cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1322220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948256 Cadm1 cell adhesion molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1310999 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter:liver PMID:17428255|REF_RGD_ID:2289095 8948256 Cadm1 cell adhesion molecule 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1322220 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 8948256 Cadm1 cell adhesion molecule 1 gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1322220 D RGD:9068941 20200609 RGD PMID:17009984|REF_RGD_ID:2289089 8948256 Cadm1 cell adhesion molecule 1 gene DOID:9002762 Ovarian Neoplasms severity ISO RGD:1322220 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:16532039|REF_RGD_ID:2296030 8948256 Cadm1 cell adhesion molecule 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1322220 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:cervix PMID:15589594|REF_RGD_ID:2289090 8948256 Cadm1 cell adhesion molecule 1 gene DOID:9003373 Uterine Cervical Neoplasms severity ISO RGD:1322220 D RGD:9068941 20200609 RGD PMID:17009984|REF_RGD_ID:2289089 8948256 Cadm1 cell adhesion molecule 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8948256 Cadm1 cell adhesion molecule 1 gene DOID:9007661 Dwarfism ISO RGD:1322220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8948256 Cadm1 cell adhesion molecule 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1322220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17260099 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1347526 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:25741868 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694011|PMID:27723758 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:0080600 COVID-19 ISO RGD:1347526 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:25741868|PMID:28492532|PMID:34185153 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:0081013 severe COVID-19 ISO RGD:1347526 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:10283 prostate cancer ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:12306 vitiligo ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:12361 Graves' disease ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17535987 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:12849 autistic disorder ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:2365 West Nile encephalitis ISO RGD:1557966 D RGD:9068941 20210423 RGD mRNA:increased expression:brain PMID:24173226|REF_RGD_ID:126781836 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:630 genetic disease ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:8893 psoriasis ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9000371 influenza A ISO RGD:1557966 D RGD:9068941 20210122 RGD mRNA:increased expression:nasal cavity mucosa (mouse) PMID:25751630|REF_RGD_ID:40925925 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9001488 Human Influenza ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9002571 Aicardi-Goutieres Syndrome 7 ISO RGD:1347526 D RGD:7240710 20180130 OMIM 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9002571 Aicardi-Goutieres Syndrome 7 ISO RGD:1347526 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 PMID:16199547|PMID:21070929|PMID:24686847|PMID:24995871|PMID:25243380|PMID:25620204|PMID:25741868|PMID:26284909|PMID:26833990|PMID:28319323|PMID:28475458|PMID:28492532|PMID:28605144|PMID:28716935|PMID:29782060|PMID:30219631|PMID:30593198|PMID:30965144|PMID:31178897|PMID:31898846|PMID:34185153|PMID:34539730|PMID:35754802 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9003885 Singleton-Merten Syndrome 1 ISO RGD:1347526 D RGD:7240710 20190327 OMIM 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9003885 Singleton-Merten Syndrome 1 ISO RGD:1347526 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Singleton-Merten syndrome 1 PMID:16199547|PMID:17576681|PMID:21070929|PMID:24686847|PMID:24995871|PMID:25620204|PMID:25741868|PMID:26284909|PMID:26833990|PMID:27477329|PMID:27577878|PMID:28319323|PMID:28475458|PMID:28492532|PMID:28605144|PMID:28606988|PMID:28716935|PMID:29018476|PMID:29270977|PMID:30219631|PMID:30564185|PMID:30707351|PMID:31069529|PMID:31178897|PMID:31898846|PMID:33440462|PMID:34185153|PMID:34539730|PMID:35754802|PMID:9536098 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9005219 Abnormal Reflexes ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:24686847|PMID:24995871|PMID:25741868|PMID:26833990|PMID:28492532|PMID:31898846 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9006705 Immunodeficiency 95 ISO RGD:1347526 D RGD:7240710 20220316 OMIM 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9006705 Immunodeficiency 95 ISO RGD:1347526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 95 PMID:25741868|PMID:28492532|PMID:28606988|PMID:28716935|PMID:29018476|PMID:34185153 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9007096 Stroke ISO RGD:1347526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25620204|PMID:25741868|PMID:28475458|PMID:28492532 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9007304 Singleton Merten Syndrome ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9008702 Idiopathic Basal Ganglia Calcification, Childhood Onset ISO RGD:1347526 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset PMID:25741868|PMID:28492532 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1347526 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:24686847 8948285 Ifih1 interferon induced with helicase C domain 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557966 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8948306 Izumo2 IZUMO family member 2 gene DOID:630 genetic disease ISO RGD:1606978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948317 Eif3b eukaryotic translation initiation factor 3 subunit B gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1319125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8948317 Eif3b eukaryotic translation initiation factor 3 subunit B gene DOID:630 genetic disease ISO RGD:1319125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948341 Cry2 cryptochrome circadian regulator 2 gene DOID:0050444 infantile Refsum disease ISO RGD:732507 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8948341 Cry2 cryptochrome circadian regulator 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:732507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8948341 Cry2 cryptochrome circadian regulator 2 gene DOID:1059 intellectual disability ISO RGD:732507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8948341 Cry2 cryptochrome circadian regulator 2 gene DOID:630 genetic disease ISO RGD:732507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948341 Cry2 cryptochrome circadian regulator 2 gene DOID:8552 chronic myeloid leukemia ISO RGD:732507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 8948341 Cry2 cryptochrome circadian regulator 2 gene DOID:9002735 alcohol withdrawal syndrome ISO RGD:732507 D RGD:9068941 20240302 RGD mRNA:decreased expression:Peripheral blood mononuclear cell (human) PMID:20735373|REF_RGD_ID:401976556 8948341 Cry2 cryptochrome circadian regulator 2 gene DOID:905 Zellweger syndrome ISO RGD:732507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8948357 Notch2 notch receptor 2 gene DOID:0050722 PHGDH deficiency ISO RGD:733357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:28492532 8948357 Notch2 notch receptor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733357 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8948357 Notch2 notch receptor 2 gene DOID:0080205 CAKUT ISO RGD:733357 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532|PMID:30143558 8948357 Notch2 notch receptor 2 gene DOID:10487 Hirschsprung's disease ISO RGD:733357 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24728327|PMID:25741868|PMID:28492532 8948357 Notch2 notch receptor 2 gene DOID:10591 pre-eclampsia ISO RGD:736047 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 8948357 Notch2 notch receptor 2 gene DOID:1074 kidney failure ISO RGD:733357 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 8948357 Notch2 notch receptor 2 gene DOID:14679 VACTERL association ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VATER association PMID:25741868|PMID:28492532 8948357 Notch2 notch receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 8948357 Notch2 notch receptor 2 gene DOID:1909 melanoma ISO RGD:733357 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8948357 Notch2 notch receptor 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:733357 D RGD:7240710 20180130 OMIM 8948357 Notch2 notch receptor 2 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:733357 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: NOTCH2-related condition | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME PMID:16199547|PMID:16773578|PMID:17159511|PMID:17576681|PMID:21378985|PMID:21378989|PMID:21681853|PMID:21712856|PMID:22209762|PMID:22891273|PMID:22891276|PMID:23389697|PMID:24728327|PMID:25741868|PMID:25741915|PMID:26184537|PMID:26627824|PMID:27312922|PMID:27592446|PMID:28492532|PMID:28512196|PMID:28566479|PMID:28776642|PMID:28941602|PMID:29100090|PMID:29698804|PMID:30143558|PMID:31130284|PMID:31595186|PMID:32164334|PMID:32341259|PMID:32368696|PMID:33448881|PMID:8723560|PMID:8755249|PMID:9536098 8948357 Notch2 notch receptor 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:733357 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 8948357 Notch2 notch receptor 2 gene DOID:3068 glioblastoma ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8948357 Notch2 notch receptor 2 gene DOID:3069 malignant astrocytoma ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8948357 Notch2 notch receptor 2 gene DOID:3149 keratoacanthoma ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoacanthoma PMID:27283355 8948357 Notch2 notch receptor 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8948357 Notch2 notch receptor 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 8948357 Notch2 notch receptor 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8948357 Notch2 notch receptor 2 gene DOID:630 genetic disease ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8948357 Notch2 notch receptor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30670679 8948357 Notch2 notch receptor 2 gene DOID:9000784 Fibrosis ISO RGD:733357 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 8948357 Notch2 notch receptor 2 gene DOID:9000812 Acroosteolysis Dominant Type ISO RGD:733357 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acroosteolysis dominant type PMID:24728327|PMID:25741868|PMID:28492532|PMID:28566479|PMID:28776642|PMID:30143558 8948357 Notch2 notch receptor 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:733357 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32715474 8948357 Notch2 notch receptor 2 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8948357 Notch2 notch receptor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 8948357 Notch2 notch receptor 2 gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:733357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:24728327|PMID:25741868|PMID:28492532 8948357 Notch2 notch receptor 2 gene DOID:9004464 Skin Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 8948357 Notch2 notch receptor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30670679 8948357 Notch2 notch receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 8948357 Notch2 notch receptor 2 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 8948357 Notch2 notch receptor 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3188 D RGD:9068941 20200609 RGD PMID:11971902|REF_RGD_ID:625426 8948357 Notch2 notch receptor 2 gene DOID:9006379 Follicular Cyst ISO RGD:733357 D RGD:9068941 20231102 CTD CTD Direct Evidence: therapeutic PMID:37277016 8948357 Notch2 notch receptor 2 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:733357 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis PMID:21378985|PMID:21378989|PMID:22891273|PMID:22891276|PMID:25741868|PMID:27312922|PMID:28492532|PMID:8755249 8948357 Notch2 notch receptor 2 gene DOID:9008932 ALAGILLE SYNDROME 2 ISO RGD:733357 D RGD:7240710 20240214 OMIM 8948357 Notch2 notch receptor 2 gene DOID:9008932 ALAGILLE SYNDROME 2 ISO RGD:733357 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Alagille syndrome 2 PMID:16773578|PMID:24728327|PMID:25016221|PMID:25741868|PMID:28492532|PMID:28512196|PMID:28566479|PMID:28776642|PMID:28941602|PMID:30143558|PMID:31749841 8948357 Notch2 notch receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696 8948357 Notch2 notch receptor 2 gene DOID:9245 Alagille syndrome ISO RGD:733357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2 PMID:16773578|PMID:24728327|PMID:25016221|PMID:25741868|PMID:28492532|PMID:28512196|PMID:28566479|PMID:28776642|PMID:28941602|PMID:31749841 8948357 Notch2 notch receptor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372903 8948357 Notch2 notch receptor 2 gene DOID:9538 multiple myeloma ISO RGD:733357 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow (human) PMID:14726396|REF_RGD_ID:1580763 8948418 Mtch1 mitochondrial carrier 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1319508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8948418 Mtch1 mitochondrial carrier 1 gene DOID:630 genetic disease ISO RGD:1319508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948439 Hoxc13 homeobox C13 gene DOID:0111656 ectodermal dysplasia 9 ISO RGD:1349214 D RGD:7240710 20180130 OMIM 8948439 Hoxc13 homeobox C13 gene DOID:0111656 ectodermal dysplasia 9 ISO RGD:1349214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type PMID:23063621|PMID:23315978|PMID:25741868 8948439 Hoxc13 homeobox C13 gene DOID:0111658 ectodermal dysplasia 4 ISO RGD:1349214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 8948439 Hoxc13 homeobox C13 gene DOID:630 genetic disease ISO RGD:1349214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948439 Hoxc13 homeobox C13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8948439 Hoxc13 homeobox C13 gene DOID:9004934 BILATERAL CLEFT LIP ISO RGD:14101462 D RGD:9068941 20231214 OMIA Ectodermal dysplasia-9 PMID:28011715 8948449 Uts2b urotensin 2B gene DOID:5419 schizophrenia ISO RGD:1603529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8948449 Uts2b urotensin 2B gene DOID:630 genetic disease ISO RGD:1603529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948477 Cttnbp2nl CTTNBP2 N-terminal like gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1607020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8948477 Cttnbp2nl CTTNBP2 N-terminal like gene DOID:630 genetic disease ISO RGD:1607020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948477 Cttnbp2nl CTTNBP2 N-terminal like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8948495 Plxna1 plexin A1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1342576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8948495 Plxna1 plexin A1 gene DOID:1826 epilepsy ISO RGD:1342576 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8948495 Plxna1 plexin A1 gene DOID:630 genetic disease ISO RGD:1342576 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8948495 Plxna1 plexin A1 gene DOID:9000876 DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME ISO RGD:1342576 D RGD:7240710 20221207 OMIM 8948495 Plxna1 plexin A1 gene DOID:9000876 DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME ISO RGD:1342576 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Dworschak-Punetha neurodevelopmental syndrome | ClinVar Annotator: match by term: PLXNA1-related condition | ClinVar Annotator: match by term: PLXNA1-related neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:34054129 8948495 Plxna1 plexin A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342576 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34054129 8948495 Plxna1 plexin A1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8948495 Plxna1 plexin A1 gene DOID:9270 alkaptonuria ISO RGD:1342576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8948552 Gna13 G protein subunit alpha 13 gene DOID:630 genetic disease ISO RGD:1320997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948552 Gna13 G protein subunit alpha 13 gene DOID:8584 Burkitt lymphoma ISO RGD:1320997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 8948552 Gna13 G protein subunit alpha 13 gene DOID:9007387 Oligodontia-Colorectal Cancer Syndrome ISO RGD:1320997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome PMID:28492532 8948569 Wasf2 WASP family member 2 gene DOID:630 genetic disease ISO RGD:1316411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948583 Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:6000 congestive heart failure ISO RGD:732434 D RGD:9068941 20200609 RGD PMID:10830164|REF_RGD_ID:1580714 8948583 Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:630 genetic disease ISO RGD:732434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948583 Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:732434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8948583 Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:732434 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8948599 Cel carboxyl ester lipase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:737498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:25741868|PMID:32906201 8948599 Cel carboxyl ester lipase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8948599 Cel carboxyl ester lipase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8948599 Cel carboxyl ester lipase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8948599 Cel carboxyl ester lipase gene DOID:0081097 Rafiq syndrome ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8948599 Cel carboxyl ester lipase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737498 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868 8948599 Cel carboxyl ester lipase gene DOID:0111105 maturity-onset diabetes of the young type 8 ISO RGD:737498 D RGD:7240710 20180130 OMIM 8948599 Cel carboxyl ester lipase gene DOID:0111105 maturity-onset diabetes of the young type 8 ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diabetes-pancreatic exocrine dysfunction syndrome | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 8 PMID:16369531|PMID:18414213|PMID:25741868|PMID:28492532|PMID:32906201 8948599 Cel carboxyl ester lipase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8948599 Cel carboxyl ester lipase gene DOID:3153 lipomatosis ISO RGD:737498 D RGD:9068941 20200609 RGD associated with Prediabetic State; DNA:deletion:exon PMID:17259390|REF_RGD_ID:2313965 8948599 Cel carboxyl ester lipase gene DOID:3652 Leigh disease ISO RGD:737498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8948599 Cel carboxyl ester lipase gene DOID:630 genetic disease ISO RGD:737498 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8948599 Cel carboxyl ester lipase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2331 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas, PMID:8446851|REF_RGD_ID:2313971 8948599 Cel carboxyl ester lipase gene DOID:9006190 Chronic Pancreatitis ISO RGD:737498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25774637 8948599 Cel carboxyl ester lipase gene DOID:9351 diabetes mellitus ISO RGD:737498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18414213|PMID:25741868|PMID:28492532|PMID:32906201 8948599 Cel carboxyl ester lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868 8948599 Cel carboxyl ester lipase gene DOID:9744 type 1 diabetes mellitus ISO RGD:737498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:18414213|PMID:25741868 8948617 Ifne interferon epsilon gene DOID:5419 schizophrenia ISO RGD:1606106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8948617 Ifne interferon epsilon gene DOID:630 genetic disease ISO RGD:1606106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948625 Bend4 BEN domain containing 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605502 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28722770 8948625 Bend4 BEN domain containing 4 gene DOID:630 genetic disease ISO RGD:1605502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948625 Bend4 BEN domain containing 4 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1605502 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:35221871 8948633 Grik3 glutamate ionotropic receptor kainate type subunit 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8948633 Grik3 glutamate ionotropic receptor kainate type subunit 3 gene DOID:5409 lung small cell carcinoma ISO RGD:735713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8948633 Grik3 glutamate ionotropic receptor kainate type subunit 3 gene DOID:630 genetic disease ISO RGD:735713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948657 Ucp3 uncoupling protein 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:733835 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8948657 Ucp3 uncoupling protein 3 gene DOID:1059 intellectual disability ISO RGD:733835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8948657 Ucp3 uncoupling protein 3 gene DOID:10763 hypertension ISO RGD:3933 D RGD:9068941 20200609 RGD PMID:10994754|REF_RGD_ID:1580795 8948657 Ucp3 uncoupling protein 3 gene DOID:11716 prediabetes syndrome ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brown fat PMID:12659879|REF_RGD_ID:2313629 8948657 Ucp3 uncoupling protein 3 gene DOID:11716 prediabetes syndrome ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:17587402|REF_RGD_ID:2313514 8948657 Ucp3 uncoupling protein 3 gene DOID:11981 morbid obesity ISO RGD:733835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OBESITY, SEVERE PMID:28492532|PMID:9769326 8948657 Ucp3 uncoupling protein 3 gene DOID:1459 hypothyroidism ISO RGD:3933 D RGD:9068941 20200609 RGD protein:decreased expression:skeletal muscle, mitochondrion PMID:17012607|REF_RGD_ID:2313535 8948657 Ucp3 uncoupling protein 3 gene DOID:4247 coronary restenosis susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:17786284|REF_RGD_ID:2313513 8948657 Ucp3 uncoupling protein 3 gene DOID:6000 congestive heart failure ISO RGD:3933 D RGD:9068941 20200609 RGD protein:decreased expression:heart, mitochondria PMID:20809120|REF_RGD_ID:7204424 8948657 Ucp3 uncoupling protein 3 gene DOID:630 genetic disease ISO RGD:733835 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8948657 Ucp3 uncoupling protein 3 gene DOID:767 muscular atrophy ISO RGD:11474 D RGD:9068941 20200609 RGD mRNA:altered expression:quadriceps muscle (mouse) PMID:19462004|REF_RGD_ID:10045654 8948657 Ucp3 uncoupling protein 3 gene DOID:7998 hyperthyroidism ISO RGD:3933 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle, mitochondrion PMID:17012607|REF_RGD_ID:2313535 8948657 Ucp3 uncoupling protein 3 gene DOID:9002188 Hypoinsulinemia ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:10935638|REF_RGD_ID:737762 8948657 Ucp3 uncoupling protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733835 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 8948657 Ucp3 uncoupling protein 3 gene DOID:9002916 Hyperphagia ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:10935638|REF_RGD_ID:737762 8948657 Ucp3 uncoupling protein 3 gene DOID:9004538 Hearing Loss ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cochlea (rat) PMID:22543089|REF_RGD_ID:10045653 8948657 Ucp3 uncoupling protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:10868941|REF_RGD_ID:2313524 8948657 Ucp3 uncoupling protein 3 gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:12079841|REF_RGD_ID:2313520 8948657 Ucp3 uncoupling protein 3 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart right ventricle PMID:17704287|REF_RGD_ID:2302404 8948657 Ucp3 uncoupling protein 3 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:3933 D RGD:9068941 20231005 RGD PMID:11934685|REF_RGD_ID:628329 8948657 Ucp3 uncoupling protein 3 gene DOID:9007692 Insulin Resistance ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:17571165|REF_RGD_ID:2313515 8948657 Ucp3 uncoupling protein 3 gene DOID:9007692 Insulin Resistance ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:17870627|REF_RGD_ID:2313512 8948657 Ucp3 uncoupling protein 3 gene DOID:9007751 Hypocholesterolemia ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:10935638|REF_RGD_ID:737762 8948657 Ucp3 uncoupling protein 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3933 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:19526854|REF_RGD_ID:2313528 8948657 Ucp3 uncoupling protein 3 gene DOID:9351 diabetes mellitus ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:17587402|REF_RGD_ID:2313514 8948657 Ucp3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733835 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A PMID:28492532|PMID:9769326 8948657 Ucp3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:11484089|REF_RGD_ID:2313522 8948657 Ucp3 uncoupling protein 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:11126413|REF_RGD_ID:2313523 8948657 Ucp3 uncoupling protein 3 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism:promoter:-55C>T (human) PMID:16373902|REF_RGD_ID:2313516 8948657 Ucp3 uncoupling protein 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:11474 D RGD:9068941 20200609 RGD PMID:18678617|REF_RGD_ID:2313502 8948657 Ucp3 uncoupling protein 3 gene DOID:9970 obesity ISO RGD:733835 D RGD:7240710 20180130 OMIM 8948657 Ucp3 uncoupling protein 3 gene DOID:9970 obesity ISO RGD:733835 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, severe, and type II diabetes | ClinVar Annotator: match by term: UCP3 POLYMORPHISM G/A | ClinVar Annotator: match by term: UCP3-related condition PMID:10618503|PMID:21544083|PMID:25741868|PMID:28492532|PMID:9769326 8948657 Ucp3 uncoupling protein 3 gene DOID:9970 obesity no_association ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:9700198|REF_RGD_ID:2313526 8948657 Ucp3 uncoupling protein 3 gene DOID:9970 obesity susceptibility ISO RGD:733835 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-55C>T (human) PMID:18249216|REF_RGD_ID:2313506 8948657 Ucp3 uncoupling protein 3 gene DOID:9993 hypoglycemia ISO RGD:733835 D RGD:9068941 20200609 RGD PMID:10935638|REF_RGD_ID:737762 8948670 Usp35 ubiquitin specific peptidase 35 gene DOID:1059 intellectual disability ISO RGD:1353275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8948670 Usp35 ubiquitin specific peptidase 35 gene DOID:630 genetic disease ISO RGD:1353275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948687 Irf3 interferon regulatory factor 3 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8948687 Irf3 interferon regulatory factor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1344104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 8948687 Irf3 interferon regulatory factor 3 gene DOID:2841 asthma ISO RGD:1558245 D RGD:9068941 20200609 RGD PMID:20673978|REF_RGD_ID:5128793 8948687 Irf3 interferon regulatory factor 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1344104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26861016 8948687 Irf3 interferon regulatory factor 3 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1344104 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8948687 Irf3 interferon regulatory factor 3 gene DOID:630 genetic disease ISO RGD:1344104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948687 Irf3 interferon regulatory factor 3 gene DOID:874 bacterial pneumonia ISO RGD:1558245 D RGD:9068941 20200609 RGD PMID:20720199|REF_RGD_ID:4891951 8948687 Irf3 interferon regulatory factor 3 gene DOID:9000840 Herpes Simplex Encephalitis 7 ISO RGD:1344104 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 PMID:25741868|PMID:26216125|PMID:26513235|PMID:28492532 8948687 Irf3 interferon regulatory factor 3 gene DOID:9000840 Herpes Simplex Encephalitis 7 susceptibility ISO RGD:1344104 D RGD:7240710 20190502 OMIM 8948687 Irf3 interferon regulatory factor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1344104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8948687 Irf3 interferon regulatory factor 3 gene DOID:9008680 Respiratory Tract Infections ISO RGD:1558245 D RGD:9068941 20200609 RGD PMID:17027894|REF_RGD_ID:5128795 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0050469 Costello syndrome ISO RGD:1343460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1343460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:16439621|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:19376813|PMID:20358587|PMID:23885229|PMID:24033266|PMID:24265153|PMID:25487361|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:33452774 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1343460 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:17366577|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:19376813|PMID:23885229|PMID:24033266|PMID:24719372|PMID:25741868|PMID:28492532|PMID:29493581 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1343460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22753777|PMID:23379592|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27257017|PMID:27751966|PMID:27763634|PMID:28492532|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30095857|PMID:30762279|PMID:30773290|PMID:33452774|PMID:9536098 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22753777|PMID:23379592|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27257017|PMID:27751966|PMID:27763634|PMID:28492532|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:33452774|PMID:9536098 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22589294|PMID:22753777|PMID:23379592|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25621899|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27257017|PMID:27751966|PMID:27763634|PMID:28492532|PMID:28798025|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:32901917|PMID:33452774|PMID:9536098 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22589294|PMID:22753777|PMID:23379592|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25621899|PMID:25640679|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27257017|PMID:27751966|PMID:27763634|PMID:28492532|PMID:28798025|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:32901917|PMID:33452774|PMID:9536098 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22589294|PMID:22753777|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25621899|PMID:25640679|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27763634|PMID:28492532|PMID:28798025|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30762279|PMID:30773290|PMID:32901917|PMID:33452774|PMID:9536098 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0080690 RASopathy ISO RGD:1343460 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:15175348|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18470943|PMID:19156172|PMID:19376813|PMID:21178588|PMID:22558107|PMID:22589294|PMID:22753777|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:24896146|PMID:25326637|PMID:25487361|PMID:25621899|PMID:25640679|PMID:25741868|PMID:25802880|PMID:25974318|PMID:26580448|PMID:27763634|PMID:28492532|PMID:28798025|PMID:29493581|PMID:29625052|PMID:29654263|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30095857|PMID:30141192|PMID:30762279|PMID:30773290|PMID:31115076|PMID:32901917|PMID:33452774|PMID:9536098 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0111152 multicentric Castleman disease ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:17366577|PMID:24719372|PMID:25326637|PMID:25741868|PMID:28492532 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0111463 cardiofaciocutaneous syndrome 4 ISO RGD:1343460 D RGD:7240710 20180130 OMIM 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0111463 cardiofaciocutaneous syndrome 4 ISO RGD:1343460 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 | ClinVar Annotator: match by term: MAP2K2-related condition PMID:16439621|PMID:17366577|PMID:17576681|PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:19156172|PMID:19376813|PMID:20358587|PMID:21178588|PMID:22753777|PMID:23885229|PMID:24033266|PMID:24265153|PMID:24719372|PMID:24803665|PMID:25326637|PMID:25487361|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:29625052|PMID:29696744|PMID:29907801|PMID:30050098|PMID:30773290|PMID:32901917|PMID:9536098 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:28492532 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:13938 amenorrhea ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome with multiple lentigines PMID:17366577|PMID:24033266|PMID:24719372|PMID:28492532|PMID:30773290 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:1612 breast cancer ISO RGD:1343460 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:tumor PMID:10216485|REF_RGD_ID:2292627 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:1909 melanoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma PMID:24265153|PMID:24265154|PMID:25487361|PMID:28492532 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:3068 glioblastoma treatment ISO RGD:1343460 D RGD:9068941 20200609 RGD PMID:26189368|REF_RGD_ID:13702862 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:3490 Noonan syndrome ISO RGD:1343460 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:17981815|PMID:18039235|PMID:18042262|PMID:18413255|PMID:18456719|PMID:19376813|PMID:22753777|PMID:23885229|PMID:24033266|PMID:25741868|PMID:25802880|PMID:28492532|PMID:29493581|PMID:29696744|PMID:30050098|PMID:30141192|PMID:30762279|PMID:33452774 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:18042262|PMID:26619011 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:1550208 D RGD:9068941 20211210 RGD PMID:21514245|REF_RGD_ID:150530476 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:18042262|PMID:26619011 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:4906 small intestine adenocarcinoma ISO RGD:1343460 D RGD:9068941 20200609 RGD PMID:19014680|REF_RGD_ID:13464351 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:18042262|PMID:26619011 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:630 genetic disease ISO RGD:1343460 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:6364 migraine ISO RGD:1343460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868|PMID:28492532 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:61888 D RGD:9068941 20211210 RGD protein:increased expression:liver, cytosol (rat) PMID:9397988|REF_RGD_ID:150530477 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1343460 D RGD:9068941 20211210 RGD mRNA:increased expression:liver (human) PMID:33553243|REF_RGD_ID:150530475 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:8923 skin melanoma ISO RGD:1343460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:18042262|PMID:26619011 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343460 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1343460 D RGD:9068941 20200609 RGD PMID:18060073|REF_RGD_ID:2298686 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:1343460 D RGD:9068941 20221222 RGD mRNA:decreased expression:blood, leukocyte (human) PMID:26956845|REF_RGD_ID:155791561 8948702 Map2k2 mitogen-activated protein kinase kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1343460 D RGD:9068941 20211210 RGD mRNA:decreased expression:colorectum (human) PMID:28000901|REF_RGD_ID:150530480 8948723 Stap1 signal transducing adaptor family member 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:1603225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:26036859 8948723 Stap1 signal transducing adaptor family member 1 gene DOID:630 genetic disease ISO RGD:1603225 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948723 Stap1 signal transducing adaptor family member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8948743 Rpa1 replication protein A1 gene DOID:630 genetic disease ISO RGD:1316541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948743 Rpa1 replication protein A1 gene DOID:9001341 Chloracne ISO RGD:1316541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8948743 Rpa1 replication protein A1 gene DOID:9007119 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 ISO RGD:1316541 D RGD:7240710 20220316 OMIM 8948743 Rpa1 replication protein A1 gene DOID:9007119 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 ISO RGD:1316541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | ClinVar Annotator: match by term: RPA1-related short telomere syndrome PMID:25741868|PMID:34767620 8948764 Trmt61b tRNA methyltransferase 61B gene DOID:630 genetic disease ISO RGD:1602887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948782 Ankrd9 ankyrin repeat domain 9 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1316983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8948782 Ankrd9 ankyrin repeat domain 9 gene DOID:0110801 hereditary spastic paraplegia 49 ISO RGD:1316983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 PMID:28492532 8948782 Ankrd9 ankyrin repeat domain 9 gene DOID:630 genetic disease ISO RGD:1316983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948782 Ankrd9 ankyrin repeat domain 9 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1316983 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8948794 Ikbip IKBKB interacting protein gene DOID:630 genetic disease ISO RGD:1605589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948812 Tenm1 teneurin transmembrane protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8948812 Tenm1 teneurin transmembrane protein 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1350445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8948812 Tenm1 teneurin transmembrane protein 1 gene DOID:12849 autistic disorder ISO RGD:1350445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8948812 Tenm1 teneurin transmembrane protein 1 gene DOID:630 genetic disease ISO RGD:1350445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948812 Tenm1 teneurin transmembrane protein 1 gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1350445 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 8948851 Ubash3b ubiquitin associated and SH3 domain containing B gene DOID:5419 schizophrenia ISO RGD:1605914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8948851 Ubash3b ubiquitin associated and SH3 domain containing B gene DOID:630 genetic disease ISO RGD:1605914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948851 Ubash3b ubiquitin associated and SH3 domain containing B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8948851 Ubash3b ubiquitin associated and SH3 domain containing B gene DOID:9007661 Dwarfism ISO RGD:1605914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8948869 Pm20d2 peptidase M20 domain containing 2 gene DOID:630 genetic disease ISO RGD:1317289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948880 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:0060041 autism spectrum disorder ISO RGD:1606789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8948880 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1606789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8948880 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:5419 schizophrenia ISO RGD:1606789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8948880 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1606789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948880 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:684 hepatocellular carcinoma severity ISO RGD:1606789 D RGD:9068941 20230128 RGD PMID:34456727|REF_RGD_ID:155882446 8948880 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:9004088 NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES ISO RGD:1606789 D RGD:7240710 20221221 OMIM 8948880 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:9004088 NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES ISO RGD:1606789 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies PMID:35087184 8948880 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606789 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:31390136 8948880 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:9006295 HEART AND BRAIN MALFORMATION SYNDROME ISO RGD:1606789 D RGD:7240710 20190315 OMIM 8948880 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:9006295 HEART AND BRAIN MALFORMATION SYNDROME ISO RGD:1606789 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Heart and brain malformation syndrome PMID:25741868|PMID:27018474|PMID:28492532|PMID:31390136|PMID:33609422 8948880 Smg9 SMG9 nonsense mediated mRNA decay factor gene DOID:9008086 Developmental Disabilities ISO RGD:1606789 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27018474|PMID:33609422 8948910 Parvb parvin beta gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8948910 Parvb parvin beta gene DOID:1059 intellectual disability ISO RGD:1322969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8948910 Parvb parvin beta gene DOID:630 genetic disease ISO RGD:1322969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948943 Kiaa1549l KIAA1549 like gene DOID:1059 intellectual disability ISO RGD:1604377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8948943 Kiaa1549l KIAA1549 like gene DOID:630 genetic disease ISO RGD:1604377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948967 Ddx43 DEAD-box helicase 43 gene DOID:3659 sialuria ISO RGD:1345973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 8948967 Ddx43 DEAD-box helicase 43 gene DOID:630 genetic disease ISO RGD:1345973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:0050700 cardiomyopathy ISO RGD:1314398 D RGD:9068941 20230128 RGD mRNA:increased expression:heart PMID:18658259|REF_RGD_ID:155882484 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1314398 D RGD:9068941 20200609 RGD PMID:15705784|REF_RGD_ID:1580640 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:0080169 tricuspid atresia ISO RGD:1550372 D RGD:9068941 20220825 MouseDO OMIM:605067 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:0080169 tricuspid atresia ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:10888889|REF_RGD_ID:155882483 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:0111590 Cohen syndrome ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:0111770 46,XY sex reversal 9 ISO RGD:1314398 D RGD:7240710 20180130 OMIM 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:0111770 46,XY sex reversal 9 ISO RGD:1314398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 9 PMID:14517948|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24033266|PMID:24549039|PMID:24702427|PMID:25107291|PMID:25741868|PMID:28166811|PMID:28492532|PMID:34008892 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 3 PMID:14517948|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24033266|PMID:24549039|PMID:24702427|PMID:25741868|PMID:28492532 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:25196150|REF_RGD_ID:155882481 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1550372 D RGD:9068941 20230128 RGD protein:increased expression:heart: PMID:18658259|REF_RGD_ID:155882484 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:1657 ventricular septal defect ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:25196150|REF_RGD_ID:155882481 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:1882 atrial heart septal defect ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:25196150|REF_RGD_ID:155882481 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1550372 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:6000 congestive heart failure exacerbates ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:18658259|REF_RGD_ID:155882484 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:630 genetic disease ISO RGD:1314398 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:6406 double outlet right ventricle ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Double outlet right ventricle PMID:14517948|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24702427|PMID:25741868|PMID:28492532 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1314398 D RGD:7240710 20180130 OMIM 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:14517948|PMID:20807224|PMID:24033266|PMID:24549039|PMID:24702427|PMID:25741868|PMID:28492532 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:9000460 Diaphragmatic Hernia 3 ISO RGD:1314398 D RGD:7240710 20180130 OMIM 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:9000460 Diaphragmatic Hernia 3 ISO RGD:1314398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia 3 PMID:14517948|PMID:16103912|PMID:17568391|PMID:20807224|PMID:21919901|PMID:24702427|PMID:25741868|PMID:28492532 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:9003505 Venous Thromboembolism susceptibility ISO RGD:1314398 D RGD:9068941 20230128 RGD DNA:SNP: :rs4602861(human) PMID:28373160|REF_RGD_ID:155882487 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:9008539 Perinatal Death ISO RGD:1550372 D RGD:9068941 20230128 RGD PMID:25196150|REF_RGD_ID:155882481 8948988 Zfpm2 zinc finger protein, FOG family member 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1314398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 8949000 Bcl7c BAF chromatin remodeling complex subunit BCL7C gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1318207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8949000 Bcl7c BAF chromatin remodeling complex subunit BCL7C gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1318207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 8949000 Bcl7c BAF chromatin remodeling complex subunit BCL7C gene DOID:630 genetic disease ISO RGD:1318207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949000 Bcl7c BAF chromatin remodeling complex subunit BCL7C gene DOID:9005834 Ependymomas ISO RGD:1318207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26075792 8949014 Shisal1 shisa like 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2303456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8949014 Shisal1 shisa like 1 gene DOID:1059 intellectual disability ISO RGD:2303456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8949014 Shisal1 shisa like 1 gene DOID:630 genetic disease ISO RGD:2303456 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949032 Tox2 TOX high mobility group box family member 2 gene DOID:2234 focal epilepsy ISO RGD:1350992 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8949032 Tox2 TOX high mobility group box family member 2 gene DOID:630 genetic disease ISO RGD:1350992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949032 Tox2 TOX high mobility group box family member 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8949061 Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8949061 Prps1l1 phosphoribosyl pyrophosphate synthetase 1 like 1 gene DOID:630 genetic disease ISO RGD:1314887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949066 Virma vir like m6A methyltransferase associated gene DOID:630 genetic disease ISO RGD:1603673 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949102 Pelo pelota mRNA surveillance and ribosome rescue factor gene DOID:630 genetic disease ISO RGD:1343336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949102 Pelo pelota mRNA surveillance and ribosome rescue factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8949108 Oxct1 3-oxoacid CoA-transferase 1 gene DOID:11476 osteoporosis ISO RGD:1312252 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8949108 Oxct1 3-oxoacid CoA-transferase 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1312252 D RGD:9068941 20200609 RGD protein:decreased activity:multiple (human) PMID:8844009|REF_RGD_ID:2326201 8949108 Oxct1 3-oxoacid CoA-transferase 1 gene DOID:630 genetic disease ISO RGD:1312252 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8949108 Oxct1 3-oxoacid CoA-transferase 1 gene DOID:9001530 Succinyl-CoA:3-oxoacid CoA transferase deficiency ISO RGD:1312252 D RGD:7240710 20180130 OMIM 8949108 Oxct1 3-oxoacid CoA-transferase 1 gene DOID:9001530 Succinyl-CoA:3-oxoacid CoA transferase deficiency ISO RGD:1312252 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: 3-Oxoacid CoA Transferase Deficiency | ClinVar Annotator: match by term: Succinyl-CoA:3-oxoacid CoA transferase deficiency PMID:10964512|PMID:1405472|PMID:15669687|PMID:16199547|PMID:17576681|PMID:17706444|PMID:20818383|PMID:21296660|PMID:23281106|PMID:23420214|PMID:23757202|PMID:25741868|PMID:28488182|PMID:28492532|PMID:31216074|PMID:37377599|PMID:8751852|PMID:9392403|PMID:9536098|PMID:9671268 8949108 Oxct1 3-oxoacid CoA-transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8949108 Oxct1 3-oxoacid CoA-transferase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1584008 D RGD:9068941 20200609 RGD protein:decreased activity:heart, mitochondrion (rat) PMID:3548709|REF_RGD_ID:2326100 8949108 Oxct1 3-oxoacid CoA-transferase 1 gene DOID:9007730 Burns ISO RGD:1584008 D RGD:9068941 20200609 RGD protein:increased expression:ileum (rat) PMID:15449568|REF_RGD_ID:2326198 8949108 Oxct1 3-oxoacid CoA-transferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1584008 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression, decreased activity:pancreatic islets (rat) PMID:20460097|REF_RGD_ID:2326185 8949108 Oxct1 3-oxoacid CoA-transferase 1 gene DOID:9970 obesity ISO RGD:1584008 D RGD:9068941 20200609 RGD mRNA:decreased expression:thalamus (rat) PMID:19219059|REF_RGD_ID:2326191 8949129 Ube2u ubiquitin conjugating enzyme E2 U gene DOID:1059 intellectual disability ISO RGD:1606149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8949129 Ube2u ubiquitin conjugating enzyme E2 U gene DOID:630 genetic disease ISO RGD:1606149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949161 Nit1 nitrilase 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8949161 Nit1 nitrilase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1349751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8949161 Nit1 nitrilase 1 gene DOID:630 genetic disease ISO RGD:1349751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949161 Nit1 nitrilase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8949215 Rmi2 RecQ mediated genome instability 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1606180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8949215 Rmi2 RecQ mediated genome instability 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1606180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8949215 Rmi2 RecQ mediated genome instability 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8949215 Rmi2 RecQ mediated genome instability 2 gene DOID:630 genetic disease ISO RGD:1606180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949224 Pcdh20 protocadherin 20 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1314837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8949224 Pcdh20 protocadherin 20 gene DOID:630 genetic disease ISO RGD:1314837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949240 Pdzd7 PDZ domain containing 7 gene DOID:0050439 Usher syndrome ISO RGD:1320465 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868 8949240 Pdzd7 PDZ domain containing 7 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1320465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB PMID:25741868|PMID:28492532|PMID:31253780 8949240 Pdzd7 PDZ domain containing 7 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1320465 D RGD:7240710 20180130 OMIM 8949240 Pdzd7 PDZ domain containing 7 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1320465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A PMID:20440071|PMID:24033266|PMID:25741868|PMID:26849169|PMID:28492532|PMID:29048736 8949240 Pdzd7 PDZ domain containing 7 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1320465 D RGD:7240710 20180130 OMIM 8949240 Pdzd7 PDZ domain containing 7 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1320465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic PMID:20440071|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26849169|PMID:28492532|PMID:32050993 8949240 Pdzd7 PDZ domain containing 7 gene DOID:0111635 autosomal recessive nonsyndromic deafness 57 ISO RGD:1320465 D RGD:7240710 20190315 OMIM 8949240 Pdzd7 PDZ domain containing 7 gene DOID:0111635 autosomal recessive nonsyndromic deafness 57 ISO RGD:1320465 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 57 PMID:16199547|PMID:20440071|PMID:24033266|PMID:25741868|PMID:26416264|PMID:26849169|PMID:28492532|PMID:28802369|PMID:29048736|PMID:30622556|PMID:31454969|PMID:31827275|PMID:32048449|PMID:32050993|PMID:33724713|PMID:35802133|PMID:36633841 8949240 Pdzd7 PDZ domain containing 7 gene DOID:630 genetic disease ISO RGD:1320465 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20440071|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8949240 Pdzd7 PDZ domain containing 7 gene DOID:9001128 Usher Syndrome, Type 2B ISO RGD:1320465 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2B PMID:20440071|PMID:24033266|PMID:25741868|PMID:26849169|PMID:28492532|PMID:32050993 8949240 Pdzd7 PDZ domain containing 7 gene DOID:9004538 Hearing Loss ISO RGD:1320465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17576681|PMID:28492532|PMID:30311386|PMID:9536098 8949270 Znf449 zinc finger protein 449 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8949270 Znf449 zinc finger protein 449 gene DOID:12849 autistic disorder ISO RGD:1348166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8949270 Znf449 zinc finger protein 449 gene DOID:630 genetic disease ISO RGD:1348166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949270 Znf449 zinc finger protein 449 gene DOID:9007661 Dwarfism ISO RGD:1348166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8949291 Arfrp1 ADP ribosylation factor related protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8949291 Arfrp1 ADP ribosylation factor related protein 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8949291 Arfrp1 ADP ribosylation factor related protein 1 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 8949291 Arfrp1 ADP ribosylation factor related protein 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:732355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8949291 Arfrp1 ADP ribosylation factor related protein 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:732355 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8949291 Arfrp1 ADP ribosylation factor related protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8949291 Arfrp1 ADP ribosylation factor related protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8949291 Arfrp1 ADP ribosylation factor related protein 1 gene DOID:630 genetic disease ISO RGD:732355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949322 Angptl5 angiopoietin like 5 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1351491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 8949322 Angptl5 angiopoietin like 5 gene DOID:1059 intellectual disability ISO RGD:1351491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8949322 Angptl5 angiopoietin like 5 gene DOID:12704 ataxia telangiectasia ISO RGD:1351491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8949322 Angptl5 angiopoietin like 5 gene DOID:630 genetic disease ISO RGD:1351491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949343 Rimkla ribosomal modification protein rimK like family member A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8949343 Rimkla ribosomal modification protein rimK like family member A gene DOID:630 genetic disease ISO RGD:1606921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949359 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum ISO RGD:1320698 D RGD:7240710 20211027 OMIM 8949359 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum ISO RGD:1320698 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum PMID:25741868|PMID:31924697 8949359 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1320698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 8949359 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1320698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8949359 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:630 genetic disease ISO RGD:1320698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949359 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8949359 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320698 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8949359 Supt16h SPT16 homolog, facilitates chromatin remodeling subunit gene DOID:9565 dextrocardia ISO RGD:1320698 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dextrocardia 8949409 Cnep1r1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 gene DOID:0111122 nephronophthisis 14 ISO RGD:1603875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 8949409 Cnep1r1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:1603875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949421 Znf287 zinc finger protein 287 gene DOID:10283 prostate cancer ISO RGD:1318494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8949421 Znf287 zinc finger protein 287 gene DOID:630 genetic disease ISO RGD:1318494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949450 Dock10 dedicator of cytokinesis 10 gene DOID:630 genetic disease ISO RGD:1348168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949450 Dock10 dedicator of cytokinesis 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8949450 Dock10 dedicator of cytokinesis 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8949528 Ceacam1 CEA cell adhesion molecule 1 gene DOID:299 adenocarcinoma ISO RGD:10241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8949528 Ceacam1 CEA cell adhesion molecule 1 gene DOID:5419 schizophrenia ISO RGD:10241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8949528 Ceacam1 CEA cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:10241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949528 Ceacam1 CEA cell adhesion molecule 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:10241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8949528 Ceacam1 CEA cell adhesion molecule 1 gene DOID:9005172 Lung Neoplasms ISO RGD:10241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8949560 Ky kyphoscoliosis peptidase gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1313421 D RGD:7240710 20190315 OMIM 8949560 Ky kyphoscoliosis peptidase gene DOID:0080098 myofibrillar myopathy 7 ISO RGD:1313421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 7 PMID:25741868|PMID:27484770|PMID:27485408|PMID:30591934 8949560 Ky kyphoscoliosis peptidase gene DOID:0080307 myofibrillar myopathy ISO RGD:1313421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8949560 Ky kyphoscoliosis peptidase gene DOID:0080600 COVID-19 ISO RGD:1313421 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8949560 Ky kyphoscoliosis peptidase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28488683 8949560 Ky kyphoscoliosis peptidase gene DOID:630 genetic disease ISO RGD:1313421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8949560 Ky kyphoscoliosis peptidase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1313421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8949575 Polr1a RNA polymerase I subunit A gene DOID:0060353 acrofacial dysostosis Cincinnati type ISO RGD:1345694 D RGD:7240710 20180130 OMIM 8949575 Polr1a RNA polymerase I subunit A gene DOID:0060353 acrofacial dysostosis Cincinnati type ISO RGD:1345694 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type PMID:25741868|PMID:25913037|PMID:28492532|PMID:34341987|PMID:37075751 8949575 Polr1a RNA polymerase I subunit A gene DOID:0060470 salt and pepper syndrome ISO RGD:1345694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency PMID:28492532 8949575 Polr1a RNA polymerase I subunit A gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1345694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8949575 Polr1a RNA polymerase I subunit A gene DOID:630 genetic disease ISO RGD:1345694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24153182|PMID:25741868|PMID:28492532|PMID:8910400 8949575 Polr1a RNA polymerase I subunit A gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1345694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 8949575 Polr1a RNA polymerase I subunit A gene DOID:9008918 Hypomyelinating Leukodystrophy 27 ISO RGD:1345694 D RGD:7240710 20240124 OMIM 8949623 Cd244 CD244 molecule gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8949623 Cd244 CD244 molecule gene DOID:10283 prostate cancer ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8949623 Cd244 CD244 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8949623 Cd244 CD244 molecule gene DOID:630 genetic disease ISO RGD:736436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949623 Cd244 CD244 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:18794858 8949623 Cd244 CD244 molecule gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:736436 D RGD:7240710 20190329 OMIM 8949623 Cd244 CD244 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8949656 Tex52 testis expressed 52 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:13208664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8949666 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8949666 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:14679 VACTERL association ISO RGD:69036 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 8949666 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8949666 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:303 substance-related disorder ISO RGD:69035 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8949666 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:630 genetic disease ISO RGD:69035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949666 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8949666 Qsox1 quiescin sulfhydryl oxidase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:69035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8949683 Poll DNA polymerase lambda gene DOID:0090020 split hand-foot malformation ISO RGD:1317600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:21681106 8949683 Poll DNA polymerase lambda gene DOID:630 genetic disease ISO RGD:1317600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949700 Tlcd3a TLC domain containing 3A gene DOID:0111406 Fraser syndrome 3 ISO RGD:1605629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 8949700 Tlcd3a TLC domain containing 3A gene DOID:630 genetic disease ISO RGD:1605629 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949714 Esrp1 epithelial splicing regulatory protein 1 gene DOID:0111639 autosomal recessive nonsyndromic deafness 109 ISO RGD:1606552 D RGD:7240710 20190315 OMIM 8949714 Esrp1 epithelial splicing regulatory protein 1 gene DOID:0111639 autosomal recessive nonsyndromic deafness 109 ISO RGD:1606552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 109 PMID:25741868|PMID:29107558 8949714 Esrp1 epithelial splicing regulatory protein 1 gene DOID:630 genetic disease ISO RGD:1606552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949750 LOC102028040 lymphocyte antigen 75 gene DOID:12849 autistic disorder ISO RGD:5131384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 8949750 LOC102028040 lymphocyte antigen 75 gene DOID:630 genetic disease ISO RGD:5131384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949791 Elavl4 ELAV like RNA binding protein 4 gene DOID:11446 sciatic neuropathy ISO RGD:1560027 D RGD:9068941 20200609 RGD PMID:12957493|REF_RGD_ID:1579851 8949791 Elavl4 ELAV like RNA binding protein 4 gene DOID:1459 hypothyroidism ISO RGD:1560027 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain: PMID:12859688|REF_RGD_ID:1579855 8949791 Elavl4 ELAV like RNA binding protein 4 gene DOID:1824 status epilepticus ISO RGD:1560027 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:17577668|REF_RGD_ID:9685310 8949791 Elavl4 ELAV like RNA binding protein 4 gene DOID:630 genetic disease ISO RGD:1348119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949791 Elavl4 ELAV like RNA binding protein 4 gene DOID:8927 learning disability ISO RGD:1560027 D RGD:9068941 20200609 RGD PMID:23545166|REF_RGD_ID:9685325 8949791 Elavl4 ELAV like RNA binding protein 4 gene DOID:9002189 High Myopia ISO RGD:1348119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8949829 Kif6 kinesin family member 6 gene DOID:0080685 aortic dissection ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:28097184|REF_RGD_ID:243048448 8949829 Kif6 kinesin family member 6 gene DOID:10763 hypertension susceptibility ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP, haplotype: :rs20455 (p.W719R), rs6930913 (human) PMID:34961832|REF_RGD_ID:243048456 8949829 Kif6 kinesin family member 6 gene DOID:1287 cardiovascular system disease no_association ISO RGD:1346574 D RGD:9068941 20230401 RGD associated with type 2 diabetes mellitus;DNA:SNP: :p.W719R (rs20455) (human) PMID:21871624|REF_RGD_ID:243048453 8949829 Kif6 kinesin family member 6 gene DOID:3393 coronary artery disease ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :rs20455 (human) PMID:18222354|REF_RGD_ID:243048446 8949829 Kif6 kinesin family member 6 gene DOID:3393 coronary artery disease no_association ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:19371834|PMID:21458191|PMID:26997531|REF_RGD_ID:243048447|REF_RGD_ID:243048449|REF_RGD_ID:243048451 8949829 Kif6 kinesin family member 6 gene DOID:3393 coronary artery disease sexual_dimorphism ISO RGD:1346574 D RGD:9068941 20230401 RGD associated with type 2 diabetes mellitus;DNA:SNP: :p.W719R (rs20455) (human) PMID:25629058|REF_RGD_ID:243048454 8949829 Kif6 kinesin family member 6 gene DOID:3393 coronary artery disease treatment ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:26443250|REF_RGD_ID:11527801 8949829 Kif6 kinesin family member 6 gene DOID:5844 myocardial infarction ISO RGD:1346574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21943003 8949829 Kif6 kinesin family member 6 gene DOID:5844 myocardial infarction ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :rs20455 (human) PMID:18222354|REF_RGD_ID:243048446 8949829 Kif6 kinesin family member 6 gene DOID:5844 myocardial infarction no_association ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:19371834|PMID:20927332|PMID:26997531|REF_RGD_ID:243048447|REF_RGD_ID:243048449|REF_RGD_ID:243048450 8949829 Kif6 kinesin family member 6 gene DOID:5844 myocardial infarction treatment ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:20403483|REF_RGD_ID:11097528 8949829 Kif6 kinesin family member 6 gene DOID:630 genetic disease ISO RGD:1346574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949829 Kif6 kinesin family member 6 gene DOID:9007096 Stroke ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:19752551|REF_RGD_ID:2317144 8949829 Kif6 kinesin family member 6 gene DOID:9352 type 2 diabetes mellitus sexual_dimorphism ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:25629058|REF_RGD_ID:243048454 8949829 Kif6 kinesin family member 6 gene DOID:9408 acute myocardial infarction ISO RGD:1346574 D RGD:9068941 20230401 RGD DNA:SNP: :p.W719R (rs20455) (human) PMID:20044086|REF_RGD_ID:243048455 8949870 Rtp5 receptor transporter protein 5 (putative) gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8949870 Rtp5 receptor transporter protein 5 (putative) gene DOID:1059 intellectual disability ISO RGD:1606110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8949870 Rtp5 receptor transporter protein 5 (putative) gene DOID:630 genetic disease ISO RGD:1606110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949887 Rhoc ras homolog family member C gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1312711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8949887 Rhoc ras homolog family member C gene DOID:13938 amenorrhea ISO RGD:1312711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8949887 Rhoc ras homolog family member C gene DOID:1612 breast cancer severity ISO RGD:1312711 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12237774|REF_RGD_ID:2298874 8949887 Rhoc ras homolog family member C gene DOID:4001 ovarian carcinoma ISO RGD:1312711 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:12808121|REF_RGD_ID:2298873 8949887 Rhoc ras homolog family member C gene DOID:630 genetic disease ISO RGD:1312711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949887 Rhoc ras homolog family member C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230616 8949887 Rhoc ras homolog family member C gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312711 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:12808121|REF_RGD_ID:2298873 8949887 Rhoc ras homolog family member C gene DOID:9007102 Myocardial Ischemia ISO RGD:1312711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8949910 Acox3 acyl-CoA oxidase 3, pristanoyl gene DOID:630 genetic disease ISO RGD:736892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949910 Acox3 acyl-CoA oxidase 3, pristanoyl gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8949963 Kifc2 kinesin family member C2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1352702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8949963 Kifc2 kinesin family member C2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1352702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8949963 Kifc2 kinesin family member C2 gene DOID:4621 holoprosencephaly ISO RGD:1352702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8949963 Kifc2 kinesin family member C2 gene DOID:630 genetic disease ISO RGD:1352702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949985 Ech1 enoyl-CoA hydratase 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:732279 D RGD:9068941 20200609 RGD PMID:31961704|REF_RGD_ID:21408561 8949985 Ech1 enoyl-CoA hydratase 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732278 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8949985 Ech1 enoyl-CoA hydratase 1 gene DOID:10603 glucose intolerance treatment ISO RGD:732279 D RGD:9068941 20200609 RGD PMID:31961704|REF_RGD_ID:21408561 8949985 Ech1 enoyl-CoA hydratase 1 gene DOID:630 genetic disease ISO RGD:732278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8949985 Ech1 enoyl-CoA hydratase 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:732279 D RGD:9068941 20200609 RGD PMID:31961704|REF_RGD_ID:21408561 8949985 Ech1 enoyl-CoA hydratase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8949985 Ech1 enoyl-CoA hydratase 1 gene DOID:9970 obesity treatment ISO RGD:732279 D RGD:9068941 20200609 RGD PMID:31961704|REF_RGD_ID:21408561 8949998 Snx22 sorting nexin 22 gene DOID:0110349 osteogenesis imperfecta type 9 ISO RGD:1312835 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 PMID:19781681|PMID:25741868|PMID:28492532|PMID:29620724 8949998 Snx22 sorting nexin 22 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8949998 Snx22 sorting nexin 22 gene DOID:12347 osteogenesis imperfecta ISO RGD:1312835 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:19781681|PMID:25741868|PMID:28242392|PMID:28492532|PMID:32392875|PMID:34659339|PMID:35583673 8949998 Snx22 sorting nexin 22 gene DOID:2717 Bloom syndrome ISO RGD:1312835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8949998 Snx22 sorting nexin 22 gene DOID:630 genetic disease ISO RGD:1312835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8949998 Snx22 sorting nexin 22 gene DOID:9256 colorectal cancer ISO RGD:1312835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732119 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:1826 epilepsy ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:2773 contact dermatitis ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:732119 D RGD:9068941 20200609 RGD DNA:SNPs:intron:rs6539137, rs4630362 (human) PMID:18996185|REF_RGD_ID:5685032 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:5844 myocardial infarction ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle (rat) PMID:18515646|REF_RGD_ID:5134341 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:6000 congestive heart failure ISO RGD:732119 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:630 genetic disease ISO RGD:732119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:657 adenoma ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:8398 osteoarthritis ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neuron PMID:19833109|REF_RGD_ID:5133729 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:9003566 Mesothelioma ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17316382 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565519 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:19128823|REF_RGD_ID:5685030 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord PMID:19409971|REF_RGD_ID:5685028 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61959 D RGD:9068941 20200609 RGD mRNA:altered expression:myocardium (rat) PMID:20571744|REF_RGD_ID:5133714 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8950006 Txnrd1 thioredoxin reductase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18483336 8950035 Smu1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8950035 Smu1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1343755 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8950035 Smu1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8950035 Smu1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:630 genetic disease ISO RGD:1343755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950035 Smu1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343755 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8950035 Smu1 SMU1 DNA replication regulator and spliceosomal factor gene DOID:9870 galactosemia ISO RGD:1343755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8950049 Osbp oxysterol binding protein gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8950049 Osbp oxysterol binding protein gene DOID:1059 intellectual disability ISO RGD:1317627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8950049 Osbp oxysterol binding protein gene DOID:12206 dengue hemorrhagic fever ISO RGD:1317627 D RGD:9068941 20210129 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:28241052|REF_RGD_ID:41404654 8950049 Osbp oxysterol binding protein gene DOID:630 genetic disease ISO RGD:1317627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950049 Osbp oxysterol binding protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1308069 D RGD:9068941 20210129 RGD protein:increased tyrosine phosphorylation:aorta PMID:18230613|REF_RGD_ID:2291921 8950049 Osbp oxysterol binding protein gene DOID:9005775 Perinatal Asphyxia ISO RGD:1308069 D RGD:9068941 20230302 RGD PMID:23625371|REF_RGD_ID:156431056 8950049 Osbp oxysterol binding protein gene DOID:9007661 Dwarfism ISO RGD:1317627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8950049 Osbp oxysterol binding protein gene DOID:9256 colorectal cancer ISO RGD:1317627 D RGD:9068941 20210129 RGD PMID:21999571|REF_RGD_ID:41404653 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:0080596 hyper IgE recurrent infection syndrome 4 ISO RGD:731409 D RGD:7240710 20190911 OMIM 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:0080596 hyper IgE recurrent infection syndrome 4 ISO RGD:731409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant PMID:17576681|PMID:25741868|PMID:28492532|PMID:28747427|PMID:30309848|PMID:32207811|PMID:33771552|PMID:9536098 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:10534 stomach cancer ISO RGD:731410 D RGD:9068941 20220825 MouseDO OMIM:137215 | OMIM:613659 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:10652 Alzheimer's disease ISO RGD:731409 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:10095017|REF_RGD_ID:10402847 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:10763 hypertension severity ISO RGD:731409 D RGD:9068941 20200609 RGD Hypertension, Pregnancy-Induced;protein:increased expression:serum PMID:11778537|REF_RGD_ID:1625432 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:11613 hyperandrogenism resistance ISO RGD:731409 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p148G>R PMID:12917504|REF_RGD_ID:1625428 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:11832 visual epilepsy ISO RGD:2903 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, granule cell (rat) PMID:14597225|REF_RGD_ID:1627572 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:1205 allergic disease ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:1824 status epilepticus ISO RGD:2903 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:14614900|REF_RGD_ID:1627571 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:2316 brain ischemia ISO RGD:2903 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, astrocyte PMID:15469886|REF_RGD_ID:1627568 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:2349 arteriosclerosis ISO RGD:731410 D RGD:9068941 20200609 RGD PMID:17664290|REF_RGD_ID:1626686 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:2349 arteriosclerosis susceptibility ISO RGD:731409 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17664290|REF_RGD_ID:1626686 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:305 carcinoma ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:731409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant PMID:25741868|PMID:32207811 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:3525 middle cerebral artery infarction ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:552 pneumonia ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:630 genetic disease ISO RGD:731409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:684 hepatocellular carcinoma ISO RGD:2903 D RGD:9068941 20200609 RGD PMID:15780071|REF_RGD_ID:1626706 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:7148 rheumatoid arthritis ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:7148 rheumatoid arthritis ISO RGD:731410 D RGD:9068941 20220825 MouseDO OMIM:180300 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:8466 retinal degeneration ISO RGD:731410 D RGD:9068941 20200609 RGD PMID:19948961|REF_RGD_ID:10402848 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9000641 Pain ISO RGD:731409 D RGD:9068941 20200609 RGD PMID:20626857|REF_RGD_ID:5509945 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9000702 Stuve-Wiedemann Syndrome 2 ISO RGD:731409 D RGD:7240710 20220330 OMIM 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9000702 Stuve-Wiedemann Syndrome 2 ISO RGD:731409 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 PMID:25741868|PMID:28492532|PMID:31914175 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9001114 Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies ISO RGD:731409 D RGD:7240710 20220316 OMIM 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9001114 Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies ISO RGD:731409 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies PMID:19020503|PMID:25741868|PMID:33517393 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9002234 Pituitary Neoplasms ISO RGD:2903 D RGD:9068941 20200609 RGD PMID:15538938|REF_RGD_ID:1627046 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9002304 Prostatic Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9002457 Experimental Arthritis ISO RGD:731409 D RGD:9068941 20200609 RGD PMID:20626857|REF_RGD_ID:5509945 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9002720 Splenomegaly ISO RGD:731410 D RGD:9068941 20200609 RGD PMID:12219085|REF_RGD_ID:737752 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9002762 Ovarian Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11161848 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9003936 Cardiomegaly ISO RGD:731410 D RGD:9068941 20200609 RGD PMID:10219240|REF_RGD_ID:737751 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9004009 Reperfusion Injury ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9004577 Stuve-Wiedemann Syndrome ISO RGD:731409 D RGD:8554872 20220816 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:25741868|PMID:31914175 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9006599 Hypertriglyceridemia ISO RGD:2903 D RGD:9068941 20200609 RGD PMID:8843746|REF_RGD_ID:1626687 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9007102 Myocardial Ischemia ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8950071 Il6st interleukin 6 cytokine family signal transducer gene DOID:9008443 Colorectal Neoplasms ISO RGD:731409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223499 8950095 Myh10 myosin heavy chain 10 gene DOID:0060041 autism spectrum disorder ISO RGD:1353980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8950095 Myh10 myosin heavy chain 10 gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1353980 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles PMID:25741868 8950095 Myh10 myosin heavy chain 10 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9678433 8950095 Myh10 myosin heavy chain 10 gene DOID:560 jaw-winking syndrome ISO RGD:1353980 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Jaw-winking syndrome PMID:25741868 8950095 Myh10 myosin heavy chain 10 gene DOID:630 genetic disease ISO RGD:1353980 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8950095 Myh10 myosin heavy chain 10 gene DOID:9003133 Hypertelorism ISO RGD:1353980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism 8950095 Myh10 myosin heavy chain 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8950095 Myh10 myosin heavy chain 10 gene DOID:9008086 Developmental Disabilities ISO RGD:1353980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8950095 Myh10 myosin heavy chain 10 gene DOID:9970 obesity ISO RGD:1353980 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 8950165 Fign fidgetin, microtubule severing factor gene DOID:12849 autistic disorder ISO RGD:1317798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 8950165 Fign fidgetin, microtubule severing factor gene DOID:630 genetic disease ISO RGD:1317798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950165 Fign fidgetin, microtubule severing factor gene DOID:9008582 Developmental Disease ISO RGD:1317798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8950182 Epb41l5 erythrocyte membrane protein band 4.1 like 5 gene DOID:630 genetic disease ISO RGD:1322786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950227 Polr2h RNA polymerase II, I and III subunit H gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314889 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8950227 Polr2h RNA polymerase II, I and III subunit H gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8950227 Polr2h RNA polymerase II, I and III subunit H gene DOID:0111546 Currarino syndrome ISO RGD:1314889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8950227 Polr2h RNA polymerase II, I and III subunit H gene DOID:630 genetic disease ISO RGD:1314889 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950258 Ajap1 adherens junctions associated protein 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603390 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8950258 Ajap1 adherens junctions associated protein 1 gene DOID:12712 nephronophthisis ISO RGD:1603390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 8950258 Ajap1 adherens junctions associated protein 1 gene DOID:630 genetic disease ISO RGD:1603390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950258 Ajap1 adherens junctions associated protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1321106 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome PMID:12439896|PMID:18698610|PMID:21670407|PMID:7825607|PMID:8422677|PMID:8541860 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:0060041 autism spectrum disorder ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:23044707|PMID:25741868|PMID:27569545 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:0060843 hereditary neuropathy with liability to pressure palsies ISO RGD:1321106 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Tomaculous neuropathy PMID:12439896|PMID:18698610|PMID:21670407|PMID:7825607|PMID:8422677|PMID:8541860 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:1321106 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:12928484|PMID:22669974|PMID:24100867|PMID:25741868|PMID:28492532|PMID:32313153 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 ISO RGD:1321106 D RGD:7240710 20201111 OMIM 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 ISO RGD:1321106 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 PMID:10767350|PMID:12928484|PMID:15455402|PMID:22669974|PMID:23665194|PMID:24100867|PMID:25741868|PMID:28492532|PMID:32313153 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:0110148 Charcot-Marie-Tooth disease type 1A ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA PMID:25741868 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:12849 autistic disorder ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:14330 Parkinson's disease ISO RGD:1321107 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:3652 Leigh disease ISO RGD:1321106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:23665194|PMID:23814038|PMID:25741868|PMID:28492532|PMID:9536098 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1321106 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:12928484|PMID:17576681|PMID:22669974|PMID:23814038|PMID:24100867|PMID:25741868|PMID:28492532|PMID:32313153|PMID:9536098 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1321106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:630 genetic disease ISO RGD:1321106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23665194|PMID:25741868|PMID:28492532 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:699 mitochondrial myopathy ISO RGD:1321107 D RGD:9068941 20220825 MouseDO OMIM:251900 8950268 LOC102022268 protoheme IX farnesyltransferase, mitochondrial gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1321106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh PMID:23665194|PMID:25741868|PMID:28492532 8950289 Cldn12 claudin 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8950289 Cldn12 claudin 12 gene DOID:630 genetic disease ISO RGD:1314174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950303 Rnf180 ring finger protein 180 gene DOID:630 genetic disease ISO RGD:1347772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950303 Rnf180 ring finger protein 180 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8950303 Rnf180 ring finger protein 180 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1347772 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34998818 8950332 Pde2a phosphodiesterase 2A gene DOID:0050700 cardiomyopathy ISO RGD:620965 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;mRNA:increased expression:cardiac myocyte: PMID:19003918|REF_RGD_ID:10449440 8950332 Pde2a phosphodiesterase 2A gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:730957 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8950332 Pde2a phosphodiesterase 2A gene DOID:1059 intellectual disability ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate PMID:25741868|PMID:32467598 8950332 Pde2a phosphodiesterase 2A gene DOID:10652 Alzheimer's disease treatment ISO RGD:737365 D RGD:9068941 20200609 RGD PMID:22771768|REF_RGD_ID:10449025 8950332 Pde2a phosphodiesterase 2A gene DOID:12859 choreatic disease ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Choreatic disease PMID:25741868|PMID:32467598 8950332 Pde2a phosphodiesterase 2A gene DOID:543 dystonia ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868|PMID:32467598 8950332 Pde2a phosphodiesterase 2A gene DOID:630 genetic disease ISO RGD:730957 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8950332 Pde2a phosphodiesterase 2A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620965 D RGD:9068941 20200609 RGD PMID:12834273|REF_RGD_ID:2312523 8950332 Pde2a phosphodiesterase 2A gene DOID:9005603 Muscle Hypotonia ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:32467598 8950332 Pde2a phosphodiesterase 2A gene DOID:9007371 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES ISO RGD:730957 D RGD:7240710 20210217 OMIM 8950332 Pde2a phosphodiesterase 2A gene DOID:9007371 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES ISO RGD:730957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with paroxysmal dyskinesia or seizures PMID:25741868|PMID:28492532|PMID:29392776|PMID:32196122|PMID:32467598 8950332 Pde2a phosphodiesterase 2A gene DOID:9008939 Breast Neoplasms ISO RGD:730957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12972520 8950390 Pnrc2 proline rich nuclear receptor coactivator 2 gene DOID:630 genetic disease ISO RGD:1351134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950390 Pnrc2 proline rich nuclear receptor coactivator 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1351134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:0080016 spina bifida susceptibility ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D148E (human) PMID:15887293|REF_RGD_ID:2315675 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1606343 D RGD:9068941 20200609 RGD PMID:19041121|REF_RGD_ID:2315660 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:114 heart disease ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22262564 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:11832 visual epilepsy ISO RGD:2126 D RGD:9068941 20200609 RGD protein:increased expression:neuron PMID:15854596|REF_RGD_ID:2302852 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:13129 severe pre-eclampsia susceptibility ISO RGD:1606343 D RGD:9068941 20231026 RGD DNA:polymorphism::p.D148E (human) PMID:24619222|REF_RGD_ID:401850778 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1380 endometrial cancer ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human) PMID:11465542|REF_RGD_ID:2315878 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1612 breast cancer susceptibility ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D148E (human) PMID:18701435|REF_RGD_ID:2315661 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1824 status epilepticus ISO RGD:2126 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:11852039|REF_RGD_ID:1599366 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:1909 melanoma ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16373707 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2316 brain ischemia ISO RGD:2126 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus CA1, neuron PMID:9030714|REF_RGD_ID:2315686 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2394 ovarian cancer ISO RGD:1606343 D RGD:9068941 20200609 RGD PMID:17974506|PMID:19787261|REF_RGD_ID:2315656|REF_RGD_ID:2315663 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:2893 cervix carcinoma ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19202550|REF_RGD_ID:2315691 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1606343 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:11748448|REF_RGD_ID:2315667 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:4362 cervical cancer ISO RGD:1606343 D RGD:9068941 20200609 RGD PMID:19292061|REF_RGD_ID:2315657 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:4362 cervical cancer ISO RGD:1606343 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.D148E (human) PMID:18503157|REF_RGD_ID:2315662 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1606343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1606343 D RGD:9068941 20230928 RGD DNA:polymorphism:exon 5: G>A (human) PMID:18712175|REF_RGD_ID:401827276 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:630 genetic disease ISO RGD:1606343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25109342 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2126 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:850 lung disease ISO RGD:2126 D RGD:9068941 20200609 RGD PMID:17280489|REF_RGD_ID:2315673 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1606343 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:prostate, cytoplasm PMID:11309329|REF_RGD_ID:2315666 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2126 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:18637713|REF_RGD_ID:2315670 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000918 Disease Progression ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9000998 Brain Injuries ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11447995 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16406883|PMID:29541389 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606343 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:prostate, cytoplasm PMID:11309329|REF_RGD_ID:2315666 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002304 Prostatic Neoplasms susceptibility ISO RGD:1606343 D RGD:9068941 20200609 RGD PMID:16406883|REF_RGD_ID:2315665 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2126 D RGD:9068941 20200609 RGD PMID:15344903|REF_RGD_ID:2315676 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2126 D RGD:9068941 20200609 RGD protein:increased expression:placenta PMID:18373555|REF_RGD_ID:2315671 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9006205 Animal Disease Models ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1606343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22245109 8950397 Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2126 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:17602955|REF_RGD_ID:2315672 8950406 Lrrc3 leucine rich repeat containing 3 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:732363 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 8950406 Lrrc3 leucine rich repeat containing 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:732363 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8950406 Lrrc3 leucine rich repeat containing 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8950406 Lrrc3 leucine rich repeat containing 3 gene DOID:12849 autistic disorder ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8950406 Lrrc3 leucine rich repeat containing 3 gene DOID:630 genetic disease ISO RGD:732363 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950406 Lrrc3 leucine rich repeat containing 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732363 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8950406 Lrrc3 leucine rich repeat containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8950406 Lrrc3 leucine rich repeat containing 3 gene DOID:9263 homocystinuria ISO RGD:732363 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8950406 Lrrc3 leucine rich repeat containing 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732363 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8950412 Fkbp15 FKBP prolyl isomerase family member 15 gene DOID:303 substance-related disorder ISO RGD:1312480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8950412 Fkbp15 FKBP prolyl isomerase family member 15 gene DOID:630 genetic disease ISO RGD:1312480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950412 Fkbp15 FKBP prolyl isomerase family member 15 gene DOID:670 amphetamine abuse ISO RGD:1312480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8950464 Fundc2 FUN14 domain containing 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1351400 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8950464 Fundc2 FUN14 domain containing 2 gene DOID:0050476 Barth syndrome ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8950464 Fundc2 FUN14 domain containing 2 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8950464 Fundc2 FUN14 domain containing 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1351400 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8950464 Fundc2 FUN14 domain containing 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8950464 Fundc2 FUN14 domain containing 2 gene DOID:11372 megacolon ISO RGD:1351400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8950464 Fundc2 FUN14 domain containing 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8950464 Fundc2 FUN14 domain containing 2 gene DOID:12134 factor VIII deficiency ISO RGD:1351400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A PMID:2105106|PMID:2563431 8950464 Fundc2 FUN14 domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1351400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8950464 Fundc2 FUN14 domain containing 2 gene DOID:13628 favism ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8950464 Fundc2 FUN14 domain containing 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1351400 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8950464 Fundc2 FUN14 domain containing 2 gene DOID:607 paraplegia ISO RGD:1351400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8950464 Fundc2 FUN14 domain containing 2 gene DOID:630 genetic disease ISO RGD:1351400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950464 Fundc2 FUN14 domain containing 2 gene DOID:9002720 Splenomegaly ISO RGD:1351400 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8950473 Coro1c coronin 1C gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1314425 D RGD:9068941 20231102 RGD mRNA:increased expression:retina (human) PMID:35692390|REF_RGD_ID:401851065 8950473 Coro1c coronin 1C gene DOID:2986 IgA glomerulonephritis ISO RGD:1314425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8950473 Coro1c coronin 1C gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314425 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 8950473 Coro1c coronin 1C gene DOID:630 genetic disease ISO RGD:1314425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:68486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:68486 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:68486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:68486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:1612 breast cancer ISO RGD:68486 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:25526449|REF_RGD_ID:27226689 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:68486 D RGD:9068941 20200609 RGD PMID:30727821|REF_RGD_ID:27226687 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:630 genetic disease ISO RGD:68486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:684 hepatocellular carcinoma ISO RGD:68486 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32805337 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:68486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1331936 D RGD:9068941 20200609 RGD PMID:31089212|REF_RGD_ID:27226686 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1331936 D RGD:9068941 20200609 RGD PMID:29763686|REF_RGD_ID:27226688 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:68486 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32805337 8950512 Akr1a1 aldo-keto reductase family 1 member A1 gene DOID:9007702 Carcinogenesis ISO RGD:68486 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32805337 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:620298 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:620298 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:23117815|REF_RGD_ID:15045604 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:0090019 sitosterolemia ISO RGD:732219 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Plant sterol storage disease | ClinVar Annotator: match by term: Sitosterolemia PMID:11138003|PMID:11452359|PMID:11668628|PMID:11855938|PMID:11893785|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16029460|PMID:16199547|PMID:17228349|PMID:17576681|PMID:17632509|PMID:17976197|PMID:19111681|PMID:19667188|PMID:20466091|PMID:20521169|PMID:20543520|PMID:20719861|PMID:20849526|PMID:21039838|PMID:21274884|PMID:21576934|PMID:21729603|PMID:22898925|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:26892138|PMID:27170062|PMID:27291889|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28748566|PMID:28771437|PMID:29055934|PMID:29066094|PMID:29304564|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30270055|PMID:30349881|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31392106|PMID:31589614|PMID:31795497|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32702746|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34268478|PMID:34304999|PMID:34505049|PMID:34615826|PMID:34650182|PMID:34887220|PMID:34969652|PMID:34998859|PMID:35042526|PMID:35557526|PMID:35741760|PMID:36229885|PMID:9536098 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:0090019 sitosterolemia susceptibility ISO RGD:620298 D RGD:9068941 20210326 RGD DNA:missense mutation: p.G583C , 1757G>T (rat) PMID:16026620|REF_RGD_ID:1598659 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:732219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:26077881 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:13580 cholestasis ISO RGD:620298 D RGD:9068941 20200609 RGD PMID:16764892|REF_RGD_ID:1598662 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:1588 thrombocytopenia ISO RGD:732219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:31064749|PMID:32088153 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:1936 atherosclerosis ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11138003 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:1936 atherosclerosis treatment ISO RGD:732220 D RGD:9068941 20230930 RGD PMID:29593532|REF_RGD_ID:401827839 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:2213 hemorrhagic disease ISO RGD:732219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:732219 D RGD:9068941 20200609 RGD PMID:11099417|REF_RGD_ID:1300331 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:3146 lipid metabolism disorder ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11138003 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:3345 xanthomatosis ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11138003 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:3393 coronary artery disease ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11099417|PMID:11138003 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:3883 Lynch syndrome ISO RGD:732219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:589 congenital hemolytic anemia ISO RGD:732219 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:630 genetic disease ISO RGD:732219 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11138003|PMID:17228349|PMID:17976197|PMID:19111681|PMID:20466091|PMID:20521169|PMID:20719861|PMID:21729603|PMID:24033266|PMID:24166850|PMID:24423340|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28492532|PMID:28521186|PMID:29055934|PMID:29353225|PMID:29886606|PMID:30528907|PMID:30697800|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31392106|PMID:31589614|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32862661|PMID:33217533|PMID:33269076|PMID:34268478|PMID:34304999|PMID:34615826|PMID:34887220|PMID:34969652|PMID:35042526|PMID:35557526|PMID:36229885 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9000528 Coronary Disease ISO RGD:732219 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9000808 Hypercholesterolemia ISO RGD:732219 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9001723 Sitosterolemia 2 ISO RGD:732219 D RGD:7240710 20191211 OMIM 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9001723 Sitosterolemia 2 ISO RGD:732219 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ABCG5-related condition | ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11099417|PMID:11138003|PMID:11668628|PMID:11893785|PMID:11907139|PMID:15054092|PMID:15375183|PMID:16029460|PMID:17228349|PMID:17632509|PMID:17976197|PMID:19111681|PMID:19667188|PMID:20466091|PMID:20521169|PMID:20543520|PMID:20719861|PMID:20849526|PMID:21039838|PMID:21274884|PMID:21729603|PMID:22898925|PMID:24033266|PMID:24166850|PMID:24423340|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27884173|PMID:28203044|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28748566|PMID:28771437|PMID:29055934|PMID:29066094|PMID:29304564|PMID:29353225|PMID:29886606|PMID:30007774|PMID:30270055|PMID:30528907|PMID:30697800|PMID:30782472|PMID:30833958|PMID:30985648|PMID:31060161|PMID:31064749|PMID:31392106|PMID:31589614|PMID:31901240|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32862661|PMID:33217533|PMID:33269076|PMID:33642439|PMID:34093240|PMID:34268478|PMID:34304999|PMID:34355501|PMID:34505049|PMID:34615826|PMID:34650182|PMID:34887220|PMID:34969652|PMID:34998859|PMID:35042526|PMID:35557526|PMID:35741760|PMID:36229885 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9002547 Sitosterolemia 1 ISO RGD:732219 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ABCG8-related condition | ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11138003|PMID:11668628|PMID:11893785|PMID:16029460|PMID:17228349|PMID:17632509|PMID:17976197|PMID:19111681|PMID:20521169|PMID:20719861|PMID:20849526|PMID:21039838|PMID:21274884|PMID:21729603|PMID:22898925|PMID:24033266|PMID:24166850|PMID:24423340|PMID:24503134|PMID:25525159|PMID:25665839|PMID:25741868|PMID:26813946|PMID:27291889|PMID:27884173|PMID:28492532|PMID:28521186|PMID:28696550|PMID:28748566|PMID:29055934|PMID:29066094|PMID:29304564|PMID:29353225|PMID:29886606|PMID:30270055|PMID:30349881|PMID:30528907|PMID:30697800|PMID:30833958|PMID:31060161|PMID:31064749|PMID:31392106|PMID:31589614|PMID:32041611|PMID:32088153|PMID:32702746|PMID:32862661|PMID:33217533|PMID:33269076|PMID:34268478|PMID:34304999|PMID:34887220|PMID:34969652|PMID:34998859|PMID:35741760|PMID:36229885 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9003370 Dyslipidemias ISO RGD:732219 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9004314 Short-Rib Thoracic Dysplasia 15 with Polydactyly ISO RGD:732219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly PMID:26077881 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:732219 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 PMID:25741868|PMID:27291889|PMID:28492532|PMID:30270055|PMID:30349881|PMID:32702746 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9005000 Gallbladder Disease 4 ISO RGD:732219 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gallbladder disease 4 PMID:11893785|PMID:17632509|PMID:21039838|PMID:21274884|PMID:22898925|PMID:25741868|PMID:28492532 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9005302 Platelet-Type Bleeding Disorder 13 ISO RGD:732219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Impaired thromboxane A2 agonist-induced platelet aggregation PMID:32581362 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620298 D RGD:9068941 20200609 RGD PMID:14618236|REF_RGD_ID:1558629 8950525 Abcg5 ATP binding cassette subfamily G member 5 gene DOID:9970 obesity disease_progression ISO RGD:620298 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 8950552 Elfn2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1606182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8950552 Elfn2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1606182 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8950552 Elfn2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1606182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8950552 Elfn2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1606182 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8950552 Elfn2 extracellular leucine rich repeat and fibronectin type III domain containing 2 gene DOID:630 genetic disease ISO RGD:1606182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1606038 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:25363760|PMID:25741868|PMID:29900417|PMID:30478443|PMID:32581362|PMID:33238114|PMID:34315901 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734|PMID:24413737 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606038 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28252636|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R882 (human) PMID:22066015|REF_RGD_ID:11041124 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:21415852|REF_RGD_ID:11041122 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0060041 autism spectrum disorder ISO RGD:1606038 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0070004 myeloid neoplasm ISO RGD:1606038 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:25363760|PMID:25741868|PMID:29900417|PMID:30478443|PMID:32581362|PMID:33238114|PMID:34315901 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606038 D RGD:7240710 20180130 OMIM 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1606038 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome | ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome PMID:11836534|PMID:15456878|PMID:16199547|PMID:17576681|PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24614070|PMID:24622842|PMID:24656771|PMID:24728327|PMID:25363760|PMID:25650308|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26866722|PMID:26876596|PMID:26912663|PMID:27317772|PMID:27701732|PMID:27771989|PMID:27991732|PMID:28166811|PMID:28252636|PMID:28432085|PMID:28475857|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:30705090|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31685998|PMID:31861499|PMID:31961069|PMID:32123902|PMID:32385248|PMID:32435502|PMID:32581362|PMID:32860008|PMID:33238114|PMID:34092059|PMID:34315901|PMID:34788385|PMID:35556126|PMID:36528185|PMID:9536098 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:10534 stomach cancer susceptibility ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-488A>G(rs36012910)(human) PMID:20128888|REF_RGD_ID:9589068 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1059 intellectual disability ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:10907 microcephaly ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30478443 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:11446 sciatic neuropathy ISO RGD:1620920 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:22031875|REF_RGD_ID:9589072 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1324 lung cancer disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:24548441|REF_RGD_ID:9588658 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:14654 prostatitis ISO RGD:1303336 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland ventral lobe: PMID:20056826|REF_RGD_ID:9588290 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1682 congenital heart disease ISO RGD:1303336 D RGD:9068941 20200609 RGD associated with Vitamin A Deficiency; mRNA:decreased expression:heart: PMID:23333085|REF_RGD_ID:9588314 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:1909 melanoma ISO RGD:1606038 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Melanoma PMID:24614070|PMID:28475857|PMID:28492532|PMID:29900417 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1620920 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland: PMID:17178860|REF_RGD_ID:2289681 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:288 endometriosis of uterus ISO RGD:1606038 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium: PMID:22572543|REF_RGD_ID:9588664 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:289 endometriosis ISO RGD:1606038 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium: PMID:17081533|REF_RGD_ID:9588669 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:3068 glioblastoma ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1620920 D RGD:9068941 20200609 RGD protein:decreased expression:mitochondrion: PMID:24399935|REF_RGD_ID:9589066 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:3525 middle cerebral artery infarction ISO RGD:1303336 D RGD:9068941 20200609 RGD PMID:23516428|REF_RGD_ID:9589049 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:3905 lung carcinoma disease_progression ISO RGD:1303336 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:21163286|REF_RGD_ID:9588222 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1606038 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898541|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28252636|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27292127 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:4961 bone marrow disease ISO RGD:1620920 D RGD:9068941 20200609 RGD PMID:25416277|REF_RGD_ID:11041127 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:23341344|REF_RGD_ID:9589073 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:5603 T-cell acute lymphoblastic leukemia susceptibility ISO RGD:1606038 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation:exon:p.R882H(human) PMID:26072070|REF_RGD_ID:11041131 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:630 genetic disease ISO RGD:1606038 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11836534|PMID:15456878|PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24614070|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:26912663|PMID:27317772|PMID:27701732|PMID:27991732|PMID:28166811|PMID:28252636|PMID:28432085|PMID:28475857|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34092059|PMID:34315901|PMID:34788385 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1303336 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1606038 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:15885882|REF_RGD_ID:9588598 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8541 Sezary's disease ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD PMID:11222358|REF_RGD_ID:9588667 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8778 Crohn's disease ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8864 acute monocytic leukemia ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399634 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1606038 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell PMID:18683034|REF_RGD_ID:9588662 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9001487 Facies ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614070 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1303336 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:23716065|REF_RGD_ID:9588620 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9004253 Immunoblastic Lymphadenopathy ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413737 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21067377|PMID:21518476|PMID:22160010|PMID:22744846|PMID:22898539|PMID:24606448|PMID:25741868|PMID:26619011|PMID:26822784|PMID:27317772|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30478443|PMID:31620784|PMID:31961069 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9005172 Lung Neoplasms ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9005184 Heyn-Sproul-Jackson Syndrome ISO RGD:1606038 D RGD:7240710 20200226 OMIM 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9005184 Heyn-Sproul-Jackson Syndrome ISO RGD:1606038 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome PMID:11836534|PMID:15456878|PMID:25741868|PMID:26912663|PMID:28492532|PMID:29740169|PMID:30478443|PMID:33182397 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9005603 Muscle Hypotonia ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9006257 Growth Disorders ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614070|PMID:30478443 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9006534 Nervous System Malformations ISO RGD:1606038 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:24606448|PMID:24622842|PMID:24656771|PMID:25741868|PMID:26619011|PMID:26876596|PMID:27991732|PMID:28166811|PMID:28252636|PMID:28492532|PMID:28941052|PMID:30185810|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:34788385 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9007661 Dwarfism ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30478443 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9007702 Carcinogenesis disease_progression ISO RGD:1303336 D RGD:9068941 20200609 RGD PMID:21163286|REF_RGD_ID:9588222 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614070 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1606038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22520950 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:7240710 20190315 OMIM 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia ISO RGD:1606038 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:21067377|PMID:21518476|PMID:22160010|PMID:22722925|PMID:22744846|PMID:22898539|PMID:22898540|PMID:22898541|PMID:24606448|PMID:24614070|PMID:24622842|PMID:24656771|PMID:25650308|PMID:25693834|PMID:25741868|PMID:26619011|PMID:26822784|PMID:26876596|PMID:27317772|PMID:27991732|PMID:28166811|PMID:28252636|PMID:28432085|PMID:28492532|PMID:28941052|PMID:29900417|PMID:30185810|PMID:30478443|PMID:31582562|PMID:31620784|PMID:31640986|PMID:31961069|PMID:32123902|PMID:32385248|PMID:32581362|PMID:34092059|PMID:34480172|PMID:34632574|PMID:34788385|PMID:36641501 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:hypomethylation: : PMID:26242829|REF_RGD_ID:11041121 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R882 (human) PMID:24512939|REF_RGD_ID:11041123 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606038 D RGD:9068941 20200609 RGD associated with Myelodysplastic Syndromes; DNA:mutations:cds: PMID:21415852|REF_RGD_ID:11041122 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:mutation:: PMID:25609058|REF_RGD_ID:11041120 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9538 multiple myeloma ISO RGD:1606038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1606038 D RGD:9068941 20200609 RGD DNA:mutations:exon, intron:p.R882(human) PMID:25242092|REF_RGD_ID:11041125 8950567 Dnmt3a DNA methyltransferase 3 alpha gene DOID:9970 obesity ISO RGD:1606038 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Obesity PMID:24614070|PMID:25741868|PMID:28492532 8950567 Dnmt3a DNA methyltransferase 3A gene DOID:1596 depressive disorder ISO RGD:1620920 D RGD:9068941 20200609 RGD PMID:20729844|REF_RGD_ID:9589061 8950621 Hs3st4 heparan sulfate-glucosamine 3-sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1352921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950621 Hs3st4 heparan sulfate-glucosamine 3-sulfotransferase 4 gene DOID:670 amphetamine abuse ISO RGD:1352921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8950644 Guca2a guanylate cyclase activator 2A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8950644 Guca2a guanylate cyclase activator 2A gene DOID:630 genetic disease ISO RGD:735414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950652 Sorbs3 sorbin and SH3 domain containing 3 gene DOID:630 genetic disease ISO RGD:1604395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950652 Sorbs3 sorbin and SH3 domain containing 3 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1604395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8950722 Tcf20 transcription factor 20 gene DOID:0060041 autism spectrum disorder ISO RGD:69146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8950722 Tcf20 transcription factor 20 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1558109 D RGD:9068941 20220825 MouseDO OMIM:606232 8950722 Tcf20 transcription factor 20 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 8950722 Tcf20 transcription factor 20 gene DOID:1059 intellectual disability ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 8950722 Tcf20 transcription factor 20 gene DOID:12849 autistic disorder ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 8950722 Tcf20 transcription factor 20 gene DOID:630 genetic disease ISO RGD:69146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30739909|PMID:31238879 8950722 Tcf20 transcription factor 20 gene DOID:9001510 Funnel Chest ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 8950722 Tcf20 transcription factor 20 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8950722 Tcf20 transcription factor 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30739909 8950722 Tcf20 transcription factor 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69146 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:30739909 8950722 Tcf20 transcription factor 20 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69146 D RGD:7240710 20190710 OMIM 8950722 Tcf20 transcription factor 20 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities | ClinVar Annotator: match by term: TCF20-related condition PMID:25228304|PMID:25741868|PMID:27436265|PMID:28492532|PMID:30739909|PMID:30819258|PMID:30909959|PMID:31690835 8950722 Tcf20 transcription factor 20 gene DOID:9005603 Muscle Hypotonia ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia 8950722 Tcf20 transcription factor 20 gene DOID:9008086 Developmental Disabilities ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8950722 Tcf20 transcription factor 20 gene DOID:9008582 Developmental Disease ISO RGD:69146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8950751 Heatr5a HEAT repeat containing 5A gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1347266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 8950751 Heatr5a HEAT repeat containing 5A gene DOID:630 genetic disease ISO RGD:1347266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950751 Heatr5a HEAT repeat containing 5A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1347266 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8950801 Adcy1 adenylate cyclase 1 gene DOID:0060001 withdrawal disorder ISO RGD:1319601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 8950801 Adcy1 adenylate cyclase 1 gene DOID:0110501 autosomal recessive nonsyndromic deafness 44 ISO RGD:1319601 D RGD:7240710 20180130 OMIM 8950801 Adcy1 adenylate cyclase 1 gene DOID:0110501 autosomal recessive nonsyndromic deafness 44 ISO RGD:1319601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 44 PMID:15583425|PMID:24033266|PMID:24482543|PMID:24824130|PMID:25741868|PMID:28492532 8950801 Adcy1 adenylate cyclase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8950801 Adcy1 adenylate cyclase 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1319601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8950801 Adcy1 adenylate cyclase 1 gene DOID:630 genetic disease ISO RGD:1319601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8950801 Adcy1 adenylate cyclase 1 gene DOID:9002362 Hyperkinesis ISO RGD:1319601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16914643 8950825 Bhlhe22 basic helix-loop-helix family member e22 gene DOID:630 genetic disease ISO RGD:1313486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950854 Gipc1 GIPC PDZ domain containing family member 1 gene DOID:0081298 oculopharyngodistal myopathy 2 ISO RGD:733913 D RGD:7240710 20200722 OMIM 8950854 Gipc1 GIPC PDZ domain containing family member 1 gene DOID:630 genetic disease ISO RGD:733913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950867 Tmed2 transmembrane p24 trafficking protein 2 gene DOID:630 genetic disease ISO RGD:735876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950867 Tmed2 transmembrane p24 trafficking protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:735876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:0050830 peripheral artery disease ISO RGD:731586 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:11832 visual epilepsy ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:9212103|REF_RGD_ID:1625496 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:1825 childhood absence epilepsy treatment ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:17331209|REF_RGD_ID:10448963 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:1936 atherosclerosis ISO RGD:11017 D RGD:9068941 20200609 RGD PMID:21468772|REF_RGD_ID:10448273 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:2018 hyperinsulinism ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:15187000|REF_RGD_ID:1625494 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:3146 lipid metabolism disorder susceptibility ISO RGD:731586 D RGD:9068941 20200609 RGD DNA:SNPs: :many PMID:17426313|REF_RGD_ID:1625492 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:4247 coronary restenosis ISO RGD:3199 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:carotid artery PMID:12689918|REF_RGD_ID:1625501 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:5394 prolactinoma ISO RGD:3199 D RGD:9068941 20200609 RGD protein:increased expression:pars anterior PMID:11026575|REF_RGD_ID:1625506 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:630 genetic disease ISO RGD:731586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:9001039 Leukocytosis ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:12417430|REF_RGD_ID:729324 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:9005372 Inflammation ISO RGD:3199 D RGD:9068941 20200609 RGD PMID:12161018|REF_RGD_ID:1625503 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:9970 obesity ISO RGD:3199 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:17447163|REF_RGD_ID:10448938 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:9970 obesity ISO RGD:731586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10849579 8950879 Npy5r neuropeptide Y receptor Y5 gene DOID:9970 obesity susceptibility ISO RGD:731586 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:10849579|REF_RGD_ID:1625493 8950895 Arhgap31 Rho GTPase activating protein 31 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1606256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:28492532 8950895 Arhgap31 Rho GTPase activating protein 31 gene DOID:0080600 COVID-19 ISO RGD:1606256 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8950895 Arhgap31 Rho GTPase activating protein 31 gene DOID:1969 cerebral palsy ISO RGD:1606256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8950895 Arhgap31 Rho GTPase activating protein 31 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1606256 D RGD:9068941 20230729 RGD associated with nicotine dependence;DNA:SNP: (rs10934490) (human) PMID:19706030|REF_RGD_ID:329970276 8950895 Arhgap31 Rho GTPase activating protein 31 gene DOID:630 genetic disease ISO RGD:1606256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8950895 Arhgap31 Rho GTPase activating protein 31 gene DOID:9004220 Adams-Oliver Syndrome 1 ISO RGD:1606256 D RGD:7240710 20190315 OMIM 8950895 Arhgap31 Rho GTPase activating protein 31 gene DOID:9004220 Adams-Oliver Syndrome 1 ISO RGD:1606256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ARHGAP31-related condition | ClinVar Annotator: match by term: Adams-Oliver syndrome 1 PMID:16451141|PMID:21565291|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29924900|PMID:474617 8950912 Bbs7 Bardet-Biedl syndrome 7 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1319511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 8950912 Bbs7 Bardet-Biedl syndrome 7 gene DOID:0110129 Bardet-Biedl syndrome 7 ISO RGD:1319511 D RGD:7240710 20180130 OMIM 8950912 Bbs7 Bardet-Biedl syndrome 7 gene DOID:0110129 Bardet-Biedl syndrome 7 ISO RGD:1319511 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BBS7-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 7 PMID:12567324|PMID:16199547|PMID:16308660|PMID:17576681|PMID:19402160|PMID:19797195|PMID:20498079|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:21937992|PMID:22302990|PMID:22500027|PMID:23462753|PMID:23572516|PMID:23847139|PMID:25553308|PMID:25741868|PMID:26003401|PMID:26325687|PMID:26518167|PMID:27486776|PMID:28492532|PMID:28761321|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31521835|PMID:32448990|PMID:32531858|PMID:33777945|PMID:9536098 8950912 Bbs7 Bardet-Biedl syndrome 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1319511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30718709 8950912 Bbs7 Bardet-Biedl syndrome 7 gene DOID:1059 intellectual disability ISO RGD:1319511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8950912 Bbs7 Bardet-Biedl syndrome 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319511 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12567324|PMID:16199547|PMID:16308660|PMID:17576681|PMID:19402160|PMID:19666486|PMID:19797195|PMID:20498079|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:22302990|PMID:22500027|PMID:23572516|PMID:23847139|PMID:25553308|PMID:25741868|PMID:26003401|PMID:26325687|PMID:26518167|PMID:27486776|PMID:28492532|PMID:28761321|PMID:29970488|PMID:30029678|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31469663|PMID:31530639|PMID:32531858|PMID:33777945|PMID:34526762|PMID:9536098 8950912 Bbs7 Bardet-Biedl syndrome 7 gene DOID:630 genetic disease ISO RGD:1319511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30718709 8950912 Bbs7 Bardet-Biedl syndrome 7 gene DOID:8501 fundus dystrophy ISO RGD:1319511 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12567324|PMID:19402160|PMID:21209035|PMID:23462753|PMID:25741868|PMID:28492532|PMID:31196119|PMID:32448990|PMID:33777945 8950912 Bbs7 Bardet-Biedl syndrome 7 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1319511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8950912 Bbs7 Bardet-Biedl syndrome 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8950912 Bbs7 Bardet-Biedl syndrome 7 gene DOID:9007665 Bardet-Biedl Syndrome 1/7, Digenic ISO RGD:1319511 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic PMID:12567324|PMID:20498079|PMID:21642631|PMID:22500027|PMID:23572516|PMID:25741868|PMID:28492532 8950942 Crtam cytotoxic and regulatory T cell molecule gene DOID:5419 schizophrenia ISO RGD:1606263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8950942 Crtam cytotoxic and regulatory T cell molecule gene DOID:630 genetic disease ISO RGD:1606263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950942 Crtam cytotoxic and regulatory T cell molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8950942 Crtam cytotoxic and regulatory T cell molecule gene DOID:9007661 Dwarfism ISO RGD:1606263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8950962 Mgarp mitochondria localized glutamic acid rich protein gene DOID:630 genetic disease ISO RGD:1603194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950962 Mgarp mitochondria localized glutamic acid rich protein gene DOID:7148 rheumatoid arthritis ISO RGD:1603194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 8950974 Fam78a family with sequence similarity 78 member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8950974 Fam78a family with sequence similarity 78 member A gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1354321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 8950974 Fam78a family with sequence similarity 78 member A gene DOID:630 genetic disease ISO RGD:1354321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950981 Chek1 checkpoint kinase 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8950981 Chek1 checkpoint kinase 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8950981 Chek1 checkpoint kinase 1 gene DOID:10283 prostate cancer ISO RGD:732292 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8950981 Chek1 checkpoint kinase 1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:732292 D RGD:9068941 20200609 RGD DNA:SNP: :35G>A (human) PMID:18381943|REF_RGD_ID:2317234 8950981 Chek1 checkpoint kinase 1 gene DOID:5419 schizophrenia ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8950981 Chek1 checkpoint kinase 1 gene DOID:630 genetic disease ISO RGD:732292 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8950981 Chek1 checkpoint kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:732292 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:15448002|REF_RGD_ID:2317235 8950981 Chek1 checkpoint kinase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8950981 Chek1 checkpoint kinase 1 gene DOID:9005779 Polyploidy ISO RGD:732292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25123929 8950981 Chek1 checkpoint kinase 1 gene DOID:9006981 Oocyte/Zygote/Embryo Maturation Arrest 21 ISO RGD:732292 D RGD:7240710 20231206 OMIM 8950981 Chek1 checkpoint kinase 1 gene DOID:9006981 Oocyte/Zygote/Embryo Maturation Arrest 21 ISO RGD:732292 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 21 PMID:33948904|PMID:33953335 8950981 Chek1 checkpoint kinase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26845104 8950981 Chek1 checkpoint kinase 1 gene DOID:9007661 Dwarfism ISO RGD:732292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8950981 Chek1 checkpoint kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25688741 8951010 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736452 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8951010 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127561 8951010 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:736452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8951010 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:630 genetic disease ISO RGD:736452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951010 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736452 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8951010 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:736452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8951010 Fmo1 flavin containing dimethylaniline monoxygenase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8951026 Fbrsl1 fibrosin like 1 gene DOID:0060224 atrial fibrillation ISO RGD:2303695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8951026 Fbrsl1 fibrosin like 1 gene DOID:630 genetic disease ISO RGD:2303695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951026 Fbrsl1 fibrosin like 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:2303695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8951026 Fbrsl1 fibrosin like 1 gene DOID:9256 colorectal cancer ISO RGD:2303695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8951047 Sla2 Src like adaptor 2 gene DOID:2234 focal epilepsy ISO RGD:1320351 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8951047 Sla2 Src like adaptor 2 gene DOID:630 genetic disease ISO RGD:1320351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951068 Tmem145 transmembrane protein 145 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8951068 Tmem145 transmembrane protein 145 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8951068 Tmem145 transmembrane protein 145 gene DOID:2340 craniosynostosis ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8951068 Tmem145 transmembrane protein 145 gene DOID:5419 schizophrenia ISO RGD:1602052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8951068 Tmem145 transmembrane protein 145 gene DOID:630 genetic disease ISO RGD:1602052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951068 Tmem145 transmembrane protein 145 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8951068 Tmem145 transmembrane protein 145 gene DOID:9269 maple syrup urine disease ISO RGD:1602052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:0060496 respiratory allergy ISO RGD:733704 D RGD:9068941 20200609 RGD PMID:20186875|REF_RGD_ID:4892588 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:733704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:1909 melanoma ISO RGD:733704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:2326 gastroenteritis ISO RGD:733704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12682265 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:2841 asthma ISO RGD:733704 D RGD:9068941 20200609 RGD PMID:19864598|REF_RGD_ID:4892589 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733704 D RGD:9068941 20200609 RGD PMID:21245013|REF_RGD_ID:4892586 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:630 genetic disease ISO RGD:733704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:850 lung disease ISO RGD:620866 D RGD:9068941 20200609 RGD PMID:19766246|REF_RGD_ID:4892587 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1553673 D RGD:9068941 20200609 RGD PMID:12511586|REF_RGD_ID:735010 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:733704 D RGD:9068941 20200609 RGD PMID:17727088|REF_RGD_ID:4892590 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:9005372 Inflammation ISO RGD:733704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12682265|PMID:24795235 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:9006202 Pruritus ISO RGD:733704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19712758 8951129 F2rl1 F2R like trypsin receptor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:733704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8951135 Socs4 suppressor of cytokine signaling 4 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1315155 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 8951135 Socs4 suppressor of cytokine signaling 4 gene DOID:630 genetic disease ISO RGD:1315155 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951135 Socs4 suppressor of cytokine signaling 4 gene DOID:9004009 Reperfusion Injury ISO RGD:1306503 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344169 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:0080600 COVID-19 ISO RGD:1344169 D RGD:9068941 20200613 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:0110994 Joubert syndrome 25 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:0111934 immunodeficiency 38 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:0111935 immunodeficiency 16 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:630 genetic disease ISO RGD:1344169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1344169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8951141 Mmp23b matrix metallopeptidase 23B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1344169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8951152 Sap30l SAP30 like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8951152 Sap30l SAP30 like gene DOID:11612 polycystic ovary syndrome ISO RGD:1606218 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8951152 Sap30l SAP30 like gene DOID:630 genetic disease ISO RGD:1606218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951152 Sap30l SAP30 like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606218 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8951159 Slc7a13 solute carrier family 7 member 13 gene DOID:630 genetic disease ISO RGD:1323193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8951168 Znf558 zinc finger protein 558 gene DOID:12849 autistic disorder ISO RGD:1348018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8951168 Znf558 zinc finger protein 558 gene DOID:630 genetic disease ISO RGD:1348018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951204 Med13 mediator complex subunit 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1312495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8951204 Med13 mediator complex subunit 13 gene DOID:0060872 isolated growth hormone deficiency type II ISO RGD:1312495 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant PMID:25741868 8951204 Med13 mediator complex subunit 13 gene DOID:1059 intellectual disability ISO RGD:1312495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8951204 Med13 mediator complex subunit 13 gene DOID:11372 megacolon ISO RGD:1312495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8951204 Med13 mediator complex subunit 13 gene DOID:12849 autistic disorder ISO RGD:1312495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 8951204 Med13 mediator complex subunit 13 gene DOID:1826 epilepsy ISO RGD:1312495 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8951204 Med13 mediator complex subunit 13 gene DOID:630 genetic disease ISO RGD:1312495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8951204 Med13 mediator complex subunit 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312495 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8951204 Med13 mediator complex subunit 13 gene DOID:9005864 Autosomal Dominant Intellectual Developmental Disorder 61 ISO RGD:1312495 D RGD:7240710 20200226 OMIM 8951204 Med13 mediator complex subunit 13 gene DOID:9005864 Autosomal Dominant Intellectual Developmental Disorder 61 ISO RGD:1312495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 | ClinVar Annotator: match by term: Intellectual developmental disorder 61 PMID:25741868|PMID:29740699 8951204 Med13 mediator complex subunit 13 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1304829 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:25287062|REF_RGD_ID:9681715 8951204 Med13 mediator complex subunit 13 gene DOID:9008582 Developmental Disease ISO RGD:1312495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8951243 Tmem117 transmembrane protein 117 gene DOID:13580 cholestasis ISO RGD:1604277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8951243 Tmem117 transmembrane protein 117 gene DOID:630 genetic disease ISO RGD:1604277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951243 Tmem117 transmembrane protein 117 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26881866 8951259 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1606926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8951259 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:251 alcohol-induced mental disorder ISO RGD:1606926 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35713687 8951259 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:3393 coronary artery disease ISO RGD:1606926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22751097 8951259 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:630 genetic disease ISO RGD:1606926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951259 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:9003289 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM ISO RGD:1606926 D RGD:7240710 20230505 OMIM 8951259 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:9003289 NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM ISO RGD:1606926 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum PMID:25741868|PMID:36401616 8951259 Hectd4 HECT domain E3 ubiquitin protein ligase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606926 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35713687 8951356 Usp37 ubiquitin specific peptidase 37 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8951356 Usp37 ubiquitin specific peptidase 37 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8951356 Usp37 ubiquitin specific peptidase 37 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8951356 Usp37 ubiquitin specific peptidase 37 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8951356 Usp37 ubiquitin specific peptidase 37 gene DOID:630 genetic disease ISO RGD:1315889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951356 Usp37 ubiquitin specific peptidase 37 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8951396 Lmbrd2 LMBR1 domain containing 2 gene DOID:0060163 body dysmorphic disorder ISO RGD:1603597 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:25741868|PMID:32820033 8951396 Lmbrd2 LMBR1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1603597 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951396 Lmbrd2 LMBR1 domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603597 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32820033 8951396 Lmbrd2 LMBR1 domain containing 2 gene DOID:9005399 DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES ISO RGD:1603597 D RGD:7240710 20220316 OMIM 8951396 Lmbrd2 LMBR1 domain containing 2 gene DOID:9005399 DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES ISO RGD:1603597 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Developmental delay with variable neurologic and brain abnormalities | ClinVar Annotator: match by term: LMBRD2-related condition PMID:25741868|PMID:32820033 8951396 Lmbrd2 LMBR1 domain containing 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1603597 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:32820033 8951421 Ptgdr prostaglandin D2 receptor gene DOID:0080600 COVID-19 ISO RGD:1349248 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8951421 Ptgdr prostaglandin D2 receptor gene DOID:2841 asthma ISO RGD:1349248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8951421 Ptgdr prostaglandin D2 receptor gene DOID:2841 asthma susceptibility ISO RGD:1349248 D RGD:7240710 20190502 OMIM 8951421 Ptgdr prostaglandin D2 receptor gene DOID:630 genetic disease ISO RGD:1349248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951436 Dpf2 double PHD fingers 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8951436 Dpf2 double PHD fingers 2 gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:25741868|PMID:29429572 8951436 Dpf2 double PHD fingers 2 gene DOID:0112369 Coffin-Siris syndrome 7 ISO RGD:1323292 D RGD:7240710 20190315 OMIM 8951436 Dpf2 double PHD fingers 2 gene DOID:0112369 Coffin-Siris syndrome 7 ISO RGD:1323292 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 7 PMID:25741868|PMID:28492532|PMID:29429572|PMID:29429672|PMID:31207137 8951436 Dpf2 double PHD fingers 2 gene DOID:1059 intellectual disability ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8951436 Dpf2 double PHD fingers 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8951436 Dpf2 double PHD fingers 2 gene DOID:2746 glycogen storage disease V ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8951436 Dpf2 double PHD fingers 2 gene DOID:3070 high grade glioma ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8951436 Dpf2 double PHD fingers 2 gene DOID:630 genetic disease ISO RGD:1323292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:28533407|PMID:29429572 8951436 Dpf2 double PHD fingers 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8951436 Dpf2 double PHD fingers 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8951436 Dpf2 double PHD fingers 2 gene DOID:9008582 Developmental Disease ISO RGD:1323292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8951452 Plekhf1 pleckstrin homology and FYVE domain containing 1 gene DOID:630 genetic disease ISO RGD:1321508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951452 Plekhf1 pleckstrin homology and FYVE domain containing 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1321508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 8951466 Zswim2 zinc finger SWIM-type containing 2 gene DOID:630 genetic disease ISO RGD:1322798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951466 Zswim2 zinc finger SWIM-type containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322798 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8951482 Grp gastrin releasing peptide gene DOID:0060842 isolated microphthalmia 3 ISO RGD:737598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8951482 Grp gastrin releasing peptide gene DOID:0111988 immunodeficiency 12 ISO RGD:737598 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8951482 Grp gastrin releasing peptide gene DOID:10283 prostate cancer ISO RGD:737598 D RGD:9068941 20230803 RGD protein:increased expression:serum (human) PMID:30146822|REF_RGD_ID:401700396 8951482 Grp gastrin releasing peptide gene DOID:1074 kidney failure ISO RGD:737598 D RGD:9068941 20230803 RGD protein:increased expression:serum (human) PMID:30146822|REF_RGD_ID:401700396 8951482 Grp gastrin releasing peptide gene DOID:10914 amnestic disorder ISO RGD:737598 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11564462 8951482 Grp gastrin releasing peptide gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737598 D RGD:9068941 20230803 RGD protein:increased expression:serum (human) PMID:30146822|REF_RGD_ID:401700396 8951482 Grp gastrin releasing peptide gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:737598 D RGD:9068941 20230803 RGD protein:increased expression:serum (human) PMID:30146822|REF_RGD_ID:401700396 8951482 Grp gastrin releasing peptide gene DOID:552 pneumonia ISO RGD:737598 D RGD:9068941 20230803 RGD protein:increased expression:serum (human) PMID:30146822|REF_RGD_ID:401700396 8951482 Grp gastrin releasing peptide gene DOID:6000 congestive heart failure ISO RGD:737598 D RGD:9068941 20230803 RGD protein:decreased expression:plasma (human) PMID:1396815|REF_RGD_ID:401700398 8951482 Grp gastrin releasing peptide gene DOID:6000 congestive heart failure exacerbates ISO RGD:737598 D RGD:9068941 20230727 RGD protein:increased expression:plasma (human) PMID:30145817|REF_RGD_ID:329961562 8951482 Grp gastrin releasing peptide gene DOID:630 genetic disease ISO RGD:737598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951482 Grp gastrin releasing peptide gene DOID:6713 cerebrovascular disease ISO RGD:737598 D RGD:9068941 20230803 RGD protein:increased expression:serum (human) PMID:30146822|REF_RGD_ID:401700396 8951482 Grp gastrin releasing peptide gene DOID:784 chronic kidney disease ISO RGD:621740 D RGD:9068941 20230803 RGD mRNA, protein:increased expression:aorta, plasma (human) PMID:32192106|REF_RGD_ID:329961569 8951482 Grp gastrin releasing peptide gene DOID:9000815 Aortic Calcification treatment ISO RGD:732839 D RGD:9068941 20230803 RGD associated with chronic kidney disease PMID:32192106|REF_RGD_ID:329961569 8951482 Grp gastrin releasing peptide gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2910524 8951482 Grp gastrin releasing peptide gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 8951482 Grp gastrin releasing peptide gene DOID:9006202 Pruritus ISO RGD:737598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669290 8951482 Grp gastrin releasing peptide gene DOID:9256 colorectal cancer ISO RGD:737598 D RGD:9068941 20230803 RGD protein:increased expression:serum (human) PMID:30146822|REF_RGD_ID:401700396 8951490 Rnf111 ring finger protein 111 gene DOID:2717 Bloom syndrome ISO RGD:1320805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8951490 Rnf111 ring finger protein 111 gene DOID:630 genetic disease ISO RGD:1320805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951490 Rnf111 ring finger protein 111 gene DOID:9256 colorectal cancer ISO RGD:1320805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8951508 Krba1 KRAB-A domain containing 1 gene DOID:630 genetic disease ISO RGD:1603293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951529 Alkbh7 alkB homolog 7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1352016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8951529 Alkbh7 alkB homolog 7 gene DOID:630 genetic disease ISO RGD:1352016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951555 Manba mannosidase beta gene DOID:1059 intellectual disability ISO RGD:1314025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:18980795|PMID:19728872|PMID:25741868|PMID:28492532|PMID:30552791|PMID:9536098 8951555 Manba mannosidase beta gene DOID:12177 common variable immunodeficiency ISO RGD:1314025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:25741868 8951555 Manba mannosidase beta gene DOID:3633 beta-mannosidosis ISO RGD:1314025 D RGD:7240710 20180822 OMIM 8951555 Manba mannosidase beta gene DOID:3633 beta-mannosidosis ISO RGD:1314025 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis | ClinVar Annotator: match by term: Beta-mannosidase deficiency PMID:12468273|PMID:12890191|PMID:1499588|PMID:16199547|PMID:1623631|PMID:16401745|PMID:16904924|PMID:17420068|PMID:17576681|PMID:18565776|PMID:18980795|PMID:19728872|PMID:19763152|PMID:20307669|PMID:2079835|PMID:22369051|PMID:22406018|PMID:24033266|PMID:25640679|PMID:25741867|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30311386|PMID:30455226|PMID:30552791|PMID:30872814|PMID:30951195|PMID:31115173|PMID:32847582|PMID:34906502|PMID:3762648|PMID:9384606|PMID:9536098 8951555 Manba mannosidase beta gene DOID:630 genetic disease ISO RGD:1314025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8951555 Manba mannosidase beta gene DOID:9004538 Hearing Loss ISO RGD:1314025 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:12468273|PMID:16199547|PMID:18565776|PMID:2079835|PMID:28492532|PMID:30311386|PMID:30872814|PMID:32847582|PMID:9384606 8951594 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:0050726 tyrosinemia type I ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 8951594 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:0060224 atrial fibrillation ISO RGD:736413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8951594 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:2717 Bloom syndrome ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8951594 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 8951594 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:630 genetic disease ISO RGD:736413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8951594 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:9005676 Webb-Dattani Syndrome ISO RGD:736413 D RGD:7240710 20200226 OMIM 8951594 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:9005676 Webb-Dattani Syndrome ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Webb-Dattani syndrome PMID:24022475|PMID:25741868|PMID:28492532 8951594 Arnt2 aryl hydrocarbon receptor nuclear translocator 2 gene DOID:9256 colorectal cancer ISO RGD:736413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8951641 Pole3 DNA polymerase epsilon 3, accessory subunit gene DOID:630 genetic disease ISO RGD:1344068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:0060071 pre-malignant neoplasm ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16788101|PMID:26285909 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:0080600 COVID-19 ISO RGD:69121 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:69121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:10591 pre-eclampsia ISO RGD:69121 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34398343 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:10652 Alzheimer's disease ISO RGD:10325 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, hindbrain (mouse) PMID:21492414|REF_RGD_ID:10401190 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:10652 Alzheimer's disease ISO RGD:69121 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (human) PMID:14769913|REF_RGD_ID:10401224 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:12858 Huntington's disease ISO RGD:10325 D RGD:9068941 20200609 RGD protein:altered localization:liver (mouse) PMID:17213233|REF_RGD_ID:10401191 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:12858 Huntington's disease treatment ISO RGD:10325 D RGD:9068941 20200609 RGD PMID:21651979|REF_RGD_ID:6484269 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:13533 osteopetrosis ISO RGD:10325 D RGD:9068941 20200609 RGD PMID:23580622|REF_RGD_ID:10401187 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:1749 squamous cell carcinoma ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17510391|PMID:21346772 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:224 transient cerebral ischemia ISO RGD:2326 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampal pyramidal cell layer (rat) PMID:9795105|REF_RGD_ID:10401192 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:3770 pulmonary fibrosis ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29078374 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:630 genetic disease ISO RGD:69121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:649 prion disease ISO RGD:10325 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus CA1, thalamus (mouse) PMID:23392676|REF_RGD_ID:10401270 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:684 hepatocellular carcinoma ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16288022|PMID:21785164 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9000277 Radiation-Induced Neoplasms ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21346772 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9000998 Brain Injuries ISO RGD:10325 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (mouse) PMID:19833158|REF_RGD_ID:10401206 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9002278 Metabolic Bone Diseases ISO RGD:10325 D RGD:9068941 20200609 RGD protein:increased expression:thigh bone (mouse) PMID:21982926|REF_RGD_ID:10401269 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9002884 Emphysema ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29078374 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9004464 Skin Neoplasms ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21346772 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9004713 Acute-Phase Reaction ISO RGD:2326 D RGD:9068941 20200609 RGD PMID:16172914|REF_RGD_ID:1625368 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9006169 Head and Neck Neoplasms ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17510391 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69121 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26162409|PMID:28492532|PMID:33179473 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69121 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26162409|PMID:27993330|PMID:28492532|PMID:33179473 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9007456 Female Infertility ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9007801 Diseases of the Aged ISO RGD:69121 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (human) PMID:14769913|REF_RGD_ID:10401224 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9008824 Sarcopenia ISO RGD:10325 D RGD:9068941 20200609 RGD protein:increased expression:thigh muscle (mouse) PMID:21982926|REF_RGD_ID:10401269 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9119 acute myeloid leukemia ISO RGD:69121 D RGD:7240710 20180130 OMIM 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9119 acute myeloid leukemia ISO RGD:69121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11242107|PMID:12661007|PMID:12692518|PMID:14726504|PMID:15575056|PMID:15902292|PMID:18768433|PMID:18946494|PMID:19731081|PMID:19953636|PMID:21177436|PMID:23716546|PMID:23926458|PMID:24220272|PMID:24728327|PMID:25741868|PMID:26162409|PMID:26721895|PMID:27005833|PMID:27993330|PMID:28250006|PMID:28492532|PMID:29296967|PMID:31867767|PMID:32430494|PMID:33179473|PMID:33345654 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9119 acute myeloid leukemia ISO RGD:69121 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic PMID:11242107|PMID:12661007|PMID:12692518|PMID:14726504|PMID:15575056|PMID:15902292|PMID:18768433|PMID:18946494|PMID:19731081|PMID:19953636|PMID:21177436|PMID:23716546|PMID:23926458|PMID:24220272|PMID:24728327|PMID:25741868|PMID:26162409|PMID:26721895|PMID:27005833|PMID:27993330|PMID:28250006|PMID:28492532|PMID:29296967|PMID:31867767|PMID:32430494|PMID:33179473|PMID:33345654|PMID:36879149 8951649 Cebpa CCAAT enhancer binding protein alpha gene DOID:9970 obesity ISO RGD:69121 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 8951650 Acbd3 acyl-CoA binding domain containing 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1348505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8951650 Acbd3 acyl-CoA binding domain containing 3 gene DOID:630 genetic disease ISO RGD:1348505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951650 Acbd3 acyl-CoA binding domain containing 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8951663 Snx1 sorting nexin 1 gene DOID:0110935 nemaline myopathy 6 ISO RGD:68962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8951663 Snx1 sorting nexin 1 gene DOID:2717 Bloom syndrome ISO RGD:68962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8951663 Snx1 sorting nexin 1 gene DOID:630 genetic disease ISO RGD:68962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951663 Snx1 sorting nexin 1 gene DOID:9256 colorectal cancer ISO RGD:68962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8951694 Pold2 DNA polymerase delta 2, accessory subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8951694 Pold2 DNA polymerase delta 2, accessory subunit gene DOID:630 genetic disease ISO RGD:1312693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8951713 Lrba LPS responsive beige-like anchor protein gene DOID:0060019 coronin-1A deficiency ISO RGD:1322886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:16199547|PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532 8951713 Lrba LPS responsive beige-like anchor protein gene DOID:0081151 common variable immunodeficiency 8 ISO RGD:1322886 D RGD:7240710 20180130 OMIM 8951713 Lrba LPS responsive beige-like anchor protein gene DOID:0081151 common variable immunodeficiency 8 ISO RGD:1322886 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:16199547|PMID:17576681|PMID:22608502|PMID:22721650|PMID:24033266|PMID:25468195|PMID:25640679|PMID:25741868|PMID:25931386|PMID:26122175|PMID:26206937|PMID:26768763|PMID:27379089|PMID:28197149|PMID:28473463|PMID:28492532|PMID:28720148|PMID:28956255|PMID:29867916|PMID:30363934|PMID:31432443|PMID:31876783|PMID:31887391|PMID:32084423|PMID:32135276|PMID:32154999|PMID:32499645|PMID:32707200|PMID:33225392|PMID:33359885|PMID:33481921|PMID:33717114|PMID:34093558|PMID:34573280|PMID:9536098 8951713 Lrba LPS responsive beige-like anchor protein gene DOID:0111802 syndromic microphthalmia 14 ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome PMID:24906020|PMID:25719200|PMID:25741868|PMID:32860008|PMID:34008892 8951713 Lrba LPS responsive beige-like anchor protein gene DOID:10487 Hirschsprung's disease ISO RGD:1322886 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 8951713 Lrba LPS responsive beige-like anchor protein gene DOID:2843 long QT syndrome ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8951713 Lrba LPS responsive beige-like anchor protein gene DOID:5419 schizophrenia ISO RGD:1322886 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8951713 Lrba LPS responsive beige-like anchor protein gene DOID:612 primary immunodeficiency disease ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:26206937|PMID:26768763|PMID:28492532|PMID:32499645 8951713 Lrba LPS responsive beige-like anchor protein gene DOID:630 genetic disease ISO RGD:1322886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28473463|PMID:28492532|PMID:31432443|PMID:34093558 8951713 Lrba LPS responsive beige-like anchor protein gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:1322886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:28492532 8951786 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1317042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8951786 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:0112175 spermatogenic failure 47 ISO RGD:1317042 D RGD:7240710 20201202 OMIM 8951786 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:0112175 spermatogenic failure 47 ISO RGD:1317042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 47 PMID:32051257 8951786 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:630 genetic disease ISO RGD:1317042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951786 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1317042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8951786 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:9007938 Myxomatous Mitral Valve Prolapse 3 ISO RGD:1317042 D RGD:7240710 20201202 OMIM 8951786 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:9007938 Myxomatous Mitral Valve Prolapse 3 ISO RGD:1317042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 3 PMID:31118289 8951786 Dzip1 DAZ interacting zinc finger protein 1 gene DOID:988 mitral valve prolapse ISO RGD:1550795 D RGD:9068941 20220825 MouseDO OMIM:157700 | OMIM:607829 | OMIM:610840 8951818 Chl1 cell adhesion molecule L1 like gene DOID:1059 intellectual disability ISO RGD:1346370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12812975 8951818 Chl1 cell adhesion molecule L1 like gene DOID:12849 autistic disorder ISO RGD:1346370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8951818 Chl1 cell adhesion molecule L1 like gene DOID:1826 epilepsy ISO RGD:1346370 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8951818 Chl1 cell adhesion molecule L1 like gene DOID:5419 schizophrenia ISO RGD:1346370 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11986985|PMID:15653271 8951818 Chl1 cell adhesion molecule L1 like gene DOID:5419 schizophrenia ISO RGD:1346370 D RGD:9068941 20200609 RGD PMID:11986985|REF_RGD_ID:1358505 8951818 Chl1 cell adhesion molecule L1 like gene DOID:630 genetic disease ISO RGD:1346370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8951818 Chl1 cell adhesion molecule L1 like gene DOID:9000039 Spinal Cord Injuries ISO RGD:620122 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:21337374|REF_RGD_ID:6483045 8951818 Chl1 cell adhesion molecule L1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8951818 Chl1 cell adhesion molecule L1-like gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620122 D RGD:9068941 20200609 RGD PMID:21452236|REF_RGD_ID:6483040 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:0050852 limb ischemia ISO RGD:62258 D RGD:9068941 20240208 RGD protein:increased expression, increased activity:hindlimb muscle (mouse) PMID:18451337|REF_RGD_ID:401965417 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:10763 hypertension ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28899902 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:10763 hypertension treatment ISO RGD:61965 D RGD:9068941 20240222 RGD PMID:29859467|REF_RGD_ID:401976391 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:10763 hypertension treatment ISO RGD:61965 D RGD:9068941 20240222 RGD associated with obesity PMID:29562733|REF_RGD_ID:401976390 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:10825 essential hypertension susceptibility ISO RGD:1343639 D RGD:9068941 20240125 RGD DNA:SNPs::g.54281T>A, 15/37C>A (human) PMID:20101100|REF_RGD_ID:401959376 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:1206 Rett syndrome ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214522 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1343639 D RGD:9068941 20240222 RGD protein:increased expression:vitreous humor (human) PMID:33627831|REF_RGD_ID:401976389 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:2018 hyperinsulinism ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28899902 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:2018 hyperinsulinism ISO RGD:61965 D RGD:9068941 20240208 RGD associated with Carotid Artery Injuries;mRNA, protein:altered expression, altered activity:carotid artery (rat) PMID:19011046|REF_RGD_ID:401965418 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:3393 coronary artery disease ISO RGD:1343639 D RGD:9068941 20240208 RGD DNA:SNP:exon 8:g.981C>T (human) PMID:21676396|REF_RGD_ID:401965429 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:630 genetic disease ISO RGD:1343639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:707 B-cell lymphoma ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24531327 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24531327 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26739621 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9001600 Wounds and Injuries treatment ISO RGD:62258 D RGD:9068941 20240208 RGD associated with Experimental Diabetes Mellitus PMID:25395617|REF_RGD_ID:401965402 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9004397 Calcification of Aortic Valve ISO RGD:1343639 D RGD:9068941 20240222 RGD protein:increased expression:aortic valve (human) PMID:35958694|REF_RGD_ID:401976381 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9005372 Inflammation ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28899902 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62258 D RGD:9068941 20240208 RGD protein:increased activity:retina (mouse) PMID:19029027|REF_RGD_ID:401965415 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:61965 D RGD:9068941 20240208 RGD mRNA:increased expression:carotid artery (rat) PMID:10807732|REF_RGD_ID:9590128 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:61965 D RGD:9068941 20240208 RGD protein:increased expression:carotid artery (rat) PMID:15271661|REF_RGD_ID:401965432 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9006182 Carotid Artery Injuries exacerbates ISO RGD:61965 D RGD:9068941 20240208 RGD PMID:16373608|REF_RGD_ID:401965416 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9007096 Stroke ISO RGD:62258 D RGD:9068941 20240222 RGD protein:increased expression:cerebral cortex (mouse) PMID:32788467|REF_RGD_ID:401976392 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9007692 Insulin Resistance ISO RGD:1343639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:11833006 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9008299 Mediastinal Neoplasms ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24531327 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9351 diabetes mellitus ISO RGD:1343639 D RGD:9068941 20240208 RGD protein:increased expression:skin of forearm (human) PMID:22688339|REF_RGD_ID:8547813 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343639 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343639 D RGD:9068941 20240208 RGD DNA:missense mutation:CDS:p.P387L (human) PMID:11756316|REF_RGD_ID:401965405 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1343639 D RGD:9068941 20240208 RGD DNA:missense mutation:CDS:p.P387L (human) PMID:15715684|REF_RGD_ID:401965404 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1343639 D RGD:7240710 20230505 OMIM 8951897 Ptpn1 protein tyrosine phosphatase non-receptor type 1 gene DOID:9970 obesity ISO RGD:1343639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10744717|PMID:20075852 8951920 Klf6 KLF transcription factor 6 gene DOID:0080600 COVID-19 ISO RGD:1349381 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8951920 Klf6 KLF transcription factor 6 gene DOID:10283 prostate cancer ISO RGD:1349381 D RGD:7240710 20180418 OMIM 8951920 Klf6 KLF transcription factor 6 gene DOID:10534 stomach cancer ISO RGD:1349381 D RGD:7240710 20220209 OMIM 8951920 Klf6 KLF transcription factor 6 gene DOID:10534 stomach cancer ISO RGD:1349381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric cancer 8951920 Klf6 KLF transcription factor 6 gene DOID:5419 schizophrenia ISO RGD:1349381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8951920 Klf6 KLF transcription factor 6 gene DOID:630 genetic disease ISO RGD:1349381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8951920 Klf6 KLF transcription factor 6 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349381 D RGD:9068941 20220217 CTD CTD Direct Evidence: marker/mechanism 8951920 Klf6 KLF transcription factor 6 gene DOID:9000466 Prostate Cancer, Somatic ISO RGD:1349381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer, somatic PMID:11752579 8951920 Klf6 KLF transcription factor 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8951920 Klf6 KLF transcription factor 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8951920 Klf6 KLF transcription factor 6 gene DOID:9006024 Hypotension ISO RGD:1349381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotension PMID:28492532 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:737611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:0080600 COVID-19 severity ISO RGD:737611 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32297828|REF_RGD_ID:32716368 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:0090036 myoclonic dystonia 26 ISO RGD:737611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:737611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:0111997 immunodeficiency 63 ISO RGD:737611 D RGD:7240710 20190731 OMIM 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:0111997 immunodeficiency 63 ISO RGD:737611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IL2RB-related condition | ClinVar Annotator: match by term: Immunodeficiency 63 with lymphoproliferation and autoimmunity PMID:25741868|PMID:28492532|PMID:31040185 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:737611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:1205 allergic disease ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:1697 ichthyosis ISO RGD:737611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:2043 hepatitis B disease_progression ISO RGD:737611 D RGD:9068941 20210312 RGD PMID:29307521|REF_RGD_ID:42724467 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:2113 coccidiosis exacerbates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:20460838|REF_RGD_ID:42724464 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:2841 asthma ISO RGD:732849 D RGD:9068941 20200609 RGD PMID:18641329|REF_RGD_ID:5147447 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:2841 asthma ISO RGD:737611 D RGD:9068941 20200609 RGD DNA:SNP: :rs2284033 (human) PMID:20860503|REF_RGD_ID:5024942 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:350 mastocytosis ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:21301182|REF_RGD_ID:42724469 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:417 autoimmune disease ISO RGD:732849 D RGD:9068941 20200609 RGD PMID:12196288|REF_RGD_ID:5684380 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:437 myasthenia gravis ISO RGD:737611 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:c.-33-11362T>C (rs743777) (human) PMID:20728947|REF_RGD_ID:5684377 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:552 pneumonia ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:630 genetic disease ISO RGD:737611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:7148 rheumatoid arthritis ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:883 parasitic helminthiasis infectious disease ameliorates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:21301182|REF_RGD_ID:42724469 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:9004283 Transplant Rejection ameliorates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:9293878|REF_RGD_ID:42733040 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:9005106 Animal Toxoplasmosis ameliorates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:11286020|REF_RGD_ID:42724468 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:737611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:9007329 Human Viral Hepatitis ISO RGD:737611 D RGD:9068941 20210312 RGD protein:decreased expression:peripheral blood lymphocyte PMID:1325198|REF_RGD_ID:42724465 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:9008707 Viremia ISO RGD:737611 D RGD:9068941 20210312 RGD PMID:29307521|REF_RGD_ID:42724467 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:9146 visceral leishmaniasis susceptibility ISO RGD:737611 D RGD:9068941 20210312 RGD DNA:polymorphisms:exon:8777, 8838(human) PMID:17108990|REF_RGD_ID:42724466 8951949 Il2rb interleukin 2 receptor subunit beta gene DOID:9744 type 1 diabetes mellitus ameliorates ISO RGD:732849 D RGD:9068941 20210312 RGD PMID:29367461|REF_RGD_ID:42733039 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:0050646 distal arthrogryposis ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis PMID:18414213|PMID:25741868|PMID:28492532 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:0080773 delta beta-thalassemia ISO RGD:737137 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:0111599 distal arthrogryposis type 2B ISO RGD:737137 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B PMID:10525521|PMID:12865991|PMID:19142688|PMID:21402185|PMID:24319099|PMID:25337069|PMID:25741868|PMID:31974414 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:0111600 distal arthrogryposis type 2B1 ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 PMID:18414213|PMID:25741868|PMID:28492532 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:0111601 distal arthrogryposis type 2B2 ISO RGD:737137 D RGD:7240710 20200228 OMIM 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:0111601 distal arthrogryposis type 2B2 ISO RGD:737137 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 PMID:10525521|PMID:12865991|PMID:19142688|PMID:21402185|PMID:24319099|PMID:25337069|PMID:25741868|PMID:31974414 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:0111969 immunodeficiency 39 ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:10907 microcephaly ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:2256 osteochondrodysplasia ISO RGD:737137 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:28492532 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:737137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate PMID:25741868|PMID:28492532 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:630 genetic disease ISO RGD:737137 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:28492532|PMID:33977145 8951968 Tnnt3 troponin T3, fast skeletal type gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:737137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:3267 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:10608 celiac disease ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17440948|REF_RGD_ID:2311642 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:SNP: :rs8192708(human) PMID:20574532|REF_RGD_ID:10427727 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:4195 hyperglycemia ISO RGD:11062 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16271515|REF_RGD_ID:2311645 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:6000 congestive heart failure ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:630 genetic disease ISO RGD:1347922 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:3267 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney, liver (rat) PMID:32416216|REF_RGD_ID:401793731 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3267 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:12538794|REF_RGD_ID:10448276 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9003263 Phosphoenolpyruvate Carboxykinase Deficiency ISO RGD:1347922 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase (GTP) deficiency PMID:28492532 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20363216 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3267 D RGD:9068941 20200609 RGD PMID:17651728|REF_RGD_ID:2311641 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9005930 Endotoxemia ISO RGD:3267 D RGD:9068941 20200609 RGD PMID:12217886|PMID:19268478|REF_RGD_ID:10427879|REF_RGD_ID:625688 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:3267 D RGD:9068941 20230914 RGD PMID:27821167|REF_RGD_ID:401799622 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9007493 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic ISO RGD:1347922 D RGD:7240710 20230505 OMIM 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9007493 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic ISO RGD:1347922 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, cytosolic PMID:1092127|PMID:24863970|PMID:25741868|PMID:26971250|PMID:28216384|PMID:28492532|PMID:33445193 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:11062 D RGD:9068941 20200609 RGD PMID:18443203|REF_RGD_ID:2311640 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:19070910|REF_RGD_ID:2311639 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3267 D RGD:9068941 20200609 RGD PMID:17242918|REF_RGD_ID:2311643 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:polymorphism:232C>G PMID:16978381|REF_RGD_ID:1601239 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1347922 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:C>G PMID:16620271|REF_RGD_ID:1601241 8951990 Pck1 phosphoenolpyruvate carboxykinase 1 gene DOID:9970 obesity ISO RGD:1347922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8952004 Larp1 La ribonucleoprotein 1, translational regulator gene DOID:630 genetic disease ISO RGD:1603686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952034 Gpr50 G protein-coupled receptor 50 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1346636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 8952034 Gpr50 G protein-coupled receptor 50 gene DOID:0060041 autism spectrum disorder ISO RGD:1346636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 8952034 Gpr50 G protein-coupled receptor 50 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8952034 Gpr50 G protein-coupled receptor 50 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1346636 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 8952034 Gpr50 G protein-coupled receptor 50 gene DOID:12849 autistic disorder ISO RGD:1346636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8952034 Gpr50 G protein-coupled receptor 50 gene DOID:630 genetic disease ISO RGD:1346636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952039 Adamtsl5 ADAMTS like 5 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1313735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8952039 Adamtsl5 ADAMTS like 5 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1313735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8952039 Adamtsl5 ADAMTS like 5 gene DOID:5339 cyclic hematopoiesis ISO RGD:1313735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8952039 Adamtsl5 ADAMTS like 5 gene DOID:630 genetic disease ISO RGD:1313735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952039 Adamtsl5 ADAMTS like 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8952057 Hapln4 hyaluronan and proteoglycan link protein 4 gene DOID:630 genetic disease ISO RGD:1348635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952057 Hapln4 hyaluronan and proteoglycan link protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1348635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8952073 LOC102007302 chromosome unknown open reading frame, human C7orf57 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1642900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8952073 LOC102007302 chromosome unknown open reading frame, human C7orf57 gene DOID:630 genetic disease ISO RGD:1642900 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952085 Nuak2 NUAK family kinase 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1603952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8952085 Nuak2 NUAK family kinase 2 gene DOID:12849 autistic disorder ISO RGD:1603952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8952085 Nuak2 NUAK family kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8952085 Nuak2 NUAK family kinase 2 gene DOID:630 genetic disease ISO RGD:1603952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952085 Nuak2 NUAK family kinase 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603952 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8952085 Nuak2 NUAK family kinase 2 gene DOID:9007291 Anencephaly 2 ISO RGD:1603952 D RGD:7240710 20210728 OMIM 8952085 Nuak2 NUAK family kinase 2 gene DOID:9007291 Anencephaly 2 ISO RGD:1603952 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Anencephaly 2 PMID:25741868 8952085 Nuak2 NUAK family kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8952098 Aacs acetoacetyl-CoA synthetase gene DOID:630 genetic disease ISO RGD:732340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952098 Aacs acetoacetyl-CoA synthetase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:708522 D RGD:9068941 20200609 RGD protein:decreased activity:liver PMID:12034369|REF_RGD_ID:2301022 8952098 Aacs acetoacetyl-CoA synthetase gene DOID:9970 obesity ISO RGD:708522 D RGD:9068941 20200609 RGD mRNA:altered expression:thalamus, hypothalamus (rat) PMID:19219059|REF_RGD_ID:2326191 8952119 Ccnb1 cyclin B1 gene DOID:0060058 lymphoma ISO RGD:735742 D RGD:9068941 20200609 RGD PMID:19666607|REF_RGD_ID:2315935 8952119 Ccnb1 cyclin B1 gene DOID:0080600 COVID-19 ISO RGD:733179 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8952119 Ccnb1 cyclin B1 gene DOID:10283 prostate cancer ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:18006855|REF_RGD_ID:2293596 8952119 Ccnb1 cyclin B1 gene DOID:11132 prostatic hypertrophy ISO RGD:735742 D RGD:9068941 20200609 RGD PMID:12670908|REF_RGD_ID:2315046 8952119 Ccnb1 cyclin B1 gene DOID:11612 polycystic ovary syndrome ISO RGD:733179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8952119 Ccnb1 cyclin B1 gene DOID:11832 visual epilepsy ISO RGD:2291 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, neuron PMID:16242239|REF_RGD_ID:2315994 8952119 Ccnb1 cyclin B1 gene DOID:1612 breast cancer ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:19223507|REF_RGD_ID:2315937 8952119 Ccnb1 cyclin B1 gene DOID:1612 breast cancer disease_progression ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:19957331|REF_RGD_ID:2315934 8952119 Ccnb1 cyclin B1 gene DOID:2152 ovary epithelial cancer ISO RGD:733179 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:19608149|REF_RGD_ID:2315936 8952119 Ccnb1 cyclin B1 gene DOID:2526 prostate adenocarcinoma severity ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:10193948|REF_RGD_ID:2315940 8952119 Ccnb1 cyclin B1 gene DOID:2871 endometrial carcinoma ISO RGD:733179 D RGD:9068941 20200609 RGD PMID:17483252|REF_RGD_ID:2289230 8952119 Ccnb1 cyclin B1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733179 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34837450 8952119 Ccnb1 cyclin B1 gene DOID:4362 cervical cancer ISO RGD:733179 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix PMID:16614707|REF_RGD_ID:2315938 8952119 Ccnb1 cyclin B1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733179 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16557593|REF_RGD_ID:2315941 8952119 Ccnb1 cyclin B1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 8952119 Ccnb1 cyclin B1 gene DOID:630 genetic disease ISO RGD:733179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952119 Ccnb1 cyclin B1 gene DOID:684 hepatocellular carcinoma ISO RGD:733179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8952119 Ccnb1 cyclin B1 gene DOID:8719 in situ carcinoma ISO RGD:733179 D RGD:9068941 20200609 RGD associated with Vulvar Neoplasms;protein:increased expression:vulva PMID:12610511|REF_RGD_ID:2296040 8952119 Ccnb1 cyclin B1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2291 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17342310|REF_RGD_ID:2315991 8952119 Ccnb1 cyclin B1 gene DOID:9002221 Hyperplasia ISO RGD:2291 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thyroid gland PMID:19298605|REF_RGD_ID:2314685 8952119 Ccnb1 cyclin B1 gene DOID:9004009 Reperfusion Injury ISO RGD:2291 D RGD:9068941 20200609 RGD protein;altered expression:cerebral cortex, hippocampus CA1, neuron PMID:18278459|REF_RGD_ID:2315990 8952119 Ccnb1 cyclin B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8952119 Ccnb1 cyclin B1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735742 D RGD:9068941 20200609 RGD PMID:11146550|REF_RGD_ID:2315939 8952119 Ccnb1 cyclin B1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2291 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20031167|REF_RGD_ID:2316310 8952133 H3f3a H3 histone, family 3A gene DOID:1540 parathyroid carcinoma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8952133 H3f3a H3 histone, family 3A gene DOID:3068 glioblastoma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:26619011|PMID:26822237 8952133 H3f3a H3 histone, family 3A gene DOID:3070 high grade glioma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:26619011 8952133 H3f3a H3 histone, family 3A gene DOID:3948 adrenocortical carcinoma ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:26619011 8952133 H3f3a H3 histone, family 3A gene DOID:4305 bone giant cell tumor ISO RGD:1317993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24162739 8952133 H3f3a H3 histone, family 3A gene DOID:630 genetic disease ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21636898|PMID:24493739|PMID:25741868|PMID:26139371|PMID:26159857|PMID:33268356|PMID:34876591 8952133 H3f3a H3 histone, family 3A gene DOID:9001391 Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 ISO RGD:1317993 D RGD:7240710 20220216 OMIM 8952133 H3f3a H3 histone, family 3A gene DOID:9001391 Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 ISO RGD:1317993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bryant-Li-Bhoj neurodevelopmental syndrome 1 | ClinVar Annotator: match by term: H3-3A-related condition | ClinVar Annotator: match by term: H3F3A-related disorders PMID:21636898|PMID:24493739|PMID:25741868|PMID:26139371|PMID:26159857|PMID:28492532|PMID:33268356|PMID:34876591 8952133 H3f3a H3 histone, family 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8952133 H3f3a H3 histone, family 3A gene DOID:9007502 Brain Neoplasms ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of brain PMID:26619011 8952133 H3f3a H3 histone, family 3A gene DOID:9007653 Multiple Abnormalities ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: H3F3A-related condition PMID:24493739|PMID:25741868|PMID:26139371|PMID:26159857|PMID:33268356 8952133 H3f3a H3 histone, family 3A gene DOID:9008086 Developmental Disabilities ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21636898|PMID:25741868|PMID:33268356|PMID:34876591 8952133 H3f3a H3 histone, family 3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8952193 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:735437 D RGD:7240710 20180130 OMIM 8952193 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:735437 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:17576681|PMID:25363768|PMID:25401298|PMID:25741868|PMID:26467025|PMID:27629860|PMID:28145425|PMID:28380698|PMID:28488083|PMID:28492532|PMID:28714951|PMID:29428275|PMID:29894724|PMID:31216804|PMID:31353855|PMID:31353862|PMID:31440721|PMID:32972906|PMID:33163565|PMID:33349918|PMID:33725338|PMID:33735526|PMID:34232791|PMID:35299674|PMID:36028527|PMID:36034301|PMID:9536098 8952193 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:1059 intellectual disability ISO RGD:735437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8952193 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:10652 Alzheimer's disease ISO RGD:10833 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:neocortex (mouse) PMID:21912965|REF_RGD_ID:9686062 8952193 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:735437 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:26467025|PMID:28492532 8952193 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:1826 epilepsy ISO RGD:735437 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure 8952193 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:630 genetic disease ISO RGD:735437 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25401298|PMID:25741868|PMID:26467025|PMID:27629860|PMID:28380698|PMID:28488083|PMID:28492532|PMID:29428275|PMID:29894724|PMID:31216804|PMID:31440721|PMID:32972906|PMID:33163565|PMID:33725338|PMID:33735526|PMID:35299674|PMID:36028527|PMID:36034301 8952193 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:735437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 8952193 Kcnc1 potassium voltage-gated channel subfamily C member 1 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:735437 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:28492532 8952201 Rnf186 ring finger protein 186 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1601756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8952201 Rnf186 ring finger protein 186 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1601756 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8952201 Rnf186 ring finger protein 186 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1601756 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8952201 Rnf186 ring finger protein 186 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1601756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8952201 Rnf186 ring finger protein 186 gene DOID:630 genetic disease ISO RGD:1601756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952201 Rnf186 ring finger protein 186 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1601756 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0001816 angiosarcoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10930038 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:730881 D RGD:7240710 20180130 OMIM 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Costello syndrome | ClinVar Annotator: match by term: FCS syndrome PMID:10716188|PMID:11150980|PMID:12835555|PMID:1362901|PMID:15491620|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16199547|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16474405|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16921267|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19995790|PMID:20112233|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20949621|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22318994|PMID:22420426|PMID:22488832|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23321623|PMID:23335589|PMID:23406027|PMID:23412389|PMID:23429430|PMID:23487764|PMID:23548900|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24390138|PMID:24728327|PMID:24803665|PMID:25070542|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25668678|PMID:25695684|PMID:25741868|PMID:25742471|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26467218|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26633542|PMID:2674130|PMID:26778095|PMID:26806338|PMID:26888048|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27468687|PMID:27589201|PMID:28002430|PMID:28027064|PMID:28139825|PMID:28179458|PMID:28328122|PMID:28371260|PMID:28390077|PMID:28489335|PMID:28492532|PMID:29493581|PMID:29684080|PMID:2999610|PMID:3004741|PMID:30055033|PMID:30138938|PMID:3018526|PMID:30191474|PMID:30732632|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32313153|PMID:32371413|PMID:32499600|PMID:32732226|PMID:3283542|PMID:33027564|PMID:3304147|PMID:33372952|PMID:34008892|PMID:34618388|PMID:34958143|PMID:3537694|PMID:6092966|PMID:6287572|PMID:6287573|PMID:6288698|PMID:6330729|PMID:7177195|PMID:8605880|PMID:8626650|PMID:8960317|PMID:9536098 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:730881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0050868 hepatocellular adenoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8200073 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndromes PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0060071 pre-malignant neoplasm ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2675901 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0060578 Noonan syndrome 1 ISO RGD:730881 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22683711|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0060581 Noonan syndrome 3 ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:12727991|PMID:1904555|PMID:19855393|PMID:25157968|PMID:26619011|PMID:31775759|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0080773 delta beta-thalassemia ISO RGD:730881 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:7240710 20180130 OMIM 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous | ClinVar Annotator: match by term: Woolly hair nevus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33027564|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous | ClinVar Annotator: match by term: Woolly hair nevus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25742471|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33027564|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:730881 D RGD:7240710 20180130 OMIM 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0111359 large congenital melanocytic nevus ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:32165824 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:730881 D RGD:7240710 20180130 OMIM 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32165824|PMID:33027564 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0111969 immunodeficiency 39 ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8952216 Hras HRas proto-oncogene, GTPase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8952216 Hras HRas proto-oncogene, GTPase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:730881 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:20937837|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31775759|PMID:32732226|PMID:33027564|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:1059 intellectual disability ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8952216 Hras HRas proto-oncogene, GTPase gene DOID:10652 Alzheimer's disease ISO RGD:730881 D RGD:9068941 20200609 RGD protein:increased expression:brain, neuron (human) PMID:10661494|REF_RGD_ID:10412306 8952216 Hras HRas proto-oncogene, GTPase gene DOID:10933 obsessive-compulsive disorder ISO RGD:730881 D RGD:9068941 20200609 RGD DNA:tandem repeat polymorphism:3' end: PMID:8832771|REF_RGD_ID:12738360 8952216 Hras HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:730881 D RGD:7240710 20180130 OMIM 8952216 Hras HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Urinary bladder cancer PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:32165824|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8952216 Hras HRas proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730881 D RGD:9068941 20200609 RGD PMID:19762144|REF_RGD_ID:2314833 8952216 Hras HRas proto-oncogene, GTPase gene DOID:1107 esophageal carcinoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:1107 esophageal carcinoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:12849 autistic disorder ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8098541 8952216 Hras HRas proto-oncogene, GTPase gene DOID:12849 autistic disorder ISO RGD:730881 D RGD:9068941 20200609 RGD PMID:8098541|REF_RGD_ID:1358733 8952216 Hras HRas proto-oncogene, GTPase gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8952216 Hras HRas proto-oncogene, GTPase gene DOID:14566 disease of cellular proliferation ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24006476|PMID:24033266|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:14791 Leber congenital amaurosis ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:17979197|PMID:18042262|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22317973|PMID:22420426|PMID:23093928|PMID:23751039|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25741868|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28492532|PMID:32165824 8952216 Hras HRas proto-oncogene, GTPase gene DOID:1749 squamous cell carcinoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24224046|PMID:25125259 8952216 Hras HRas proto-oncogene, GTPase gene DOID:1749 squamous cell carcinoma ISO RGD:730881 D RGD:9068941 20200609 RGD associated with Xeroderma Pigmentosum;missense mutations:cds:pG12V, pQ61H (human) PMID:8453633|REF_RGD_ID:10412316 8952216 Hras HRas proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8952216 Hras HRas proto-oncogene, GTPase gene DOID:2048 autoimmune hepatitis ISO RGD:730881 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:9195373|REF_RGD_ID:14694814 8952216 Hras HRas proto-oncogene, GTPase gene DOID:2394 ovarian cancer ISO RGD:730881 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8952216 Hras HRas proto-oncogene, GTPase gene DOID:2526 prostate adenocarcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:2526 prostate adenocarcinoma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:2526 prostate adenocarcinoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:2615 papilloma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8330346 8952216 Hras HRas proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:730881 D RGD:9068941 20200609 RGD DNA:snps:cds: (human) PMID:8960147|REF_RGD_ID:13781876 8952216 Hras HRas proto-oncogene, GTPase gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:730881 D RGD:9068941 20200609 RGD protein:increased expression:endometrial stroma, cytoplasm (human) PMID:9641239|REF_RGD_ID:13441555 8952216 Hras HRas proto-oncogene, GTPase gene DOID:305 carcinoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8185828 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3068 glioblastoma severity ISO RGD:730881 D RGD:9068941 20200609 RGD PMID:19179066|REF_RGD_ID:13702872 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3070 high grade glioma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3165 skin benign neoplasm ISO RGD:730881 D RGD:9068941 20200609 RGD associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human) PMID:22683711|REF_RGD_ID:11098548 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3247 rhabdomyosarcoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3275 thymoma ISO RGD:730881 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Thymoma PMID:20859122|PMID:24224811|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27283355|PMID:31775759|PMID:32732226|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:730881 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22683711|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26580448|PMID:26619011|PMID:26778095|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3571 liver cancer ISO RGD:10730 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.Q61L, p.Q61K, p.Q61R (mouse) PMID:9142214|REF_RGD_ID:14688053 8952216 Hras HRas proto-oncogene, GTPase gene DOID:363 uterine cancer ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3907 lung squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:1904555|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:20937837|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31775759|PMID:32732226|PMID:33027564|PMID:34958143|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10716188|PMID:21779495|PMID:24033266|PMID:25741868|PMID:2674130|PMID:28492532|PMID:29493581|PMID:3004741|PMID:3283542|PMID:3304147|PMID:6287572|PMID:6287573|PMID:6288698 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:4007 bladder carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:18039947|PMID:18042262|PMID:19382114|PMID:21850009|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28027064|PMID:28492532|PMID:31394527 8952216 Hras HRas proto-oncogene, GTPase gene DOID:4074 pancreatic adenocarcinoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:4440 seminoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19855393 8952216 Hras HRas proto-oncogene, GTPase gene DOID:4440 seminoma ISO RGD:730881 D RGD:9068941 20200609 RGD DNA:mutations: :multiple (human) PMID:19855393|REF_RGD_ID:2314832 8952216 Hras HRas proto-oncogene, GTPase gene DOID:4465 papillary renal cell carcinoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:4465 papillary renal cell carcinoma ISO RGD:730881 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:4465 papillary renal cell carcinoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:5082 liver cirrhosis ISO RGD:730881 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:7535324|REF_RGD_ID:14694815 8952216 Hras HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:5834 spermatocytoma ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:12727991|PMID:19855393|PMID:25157968|PMID:31775759 8952216 Hras HRas proto-oncogene, GTPase gene DOID:591 phobic disorder ISO RGD:730881 D RGD:9068941 20200609 RGD DNA:tandem repeat polymorphism:3' end: PMID:8832771|REF_RGD_ID:12738360 8952216 Hras HRas proto-oncogene, GTPase gene DOID:6171 uterine carcinosarcoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:630 genetic disease ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17384584|PMID:17412879|PMID:17576681|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19255327|PMID:19371735|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23093928|PMID:23406027|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24259709|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8605880|PMID:8960317|PMID:9536098 8952216 Hras HRas proto-oncogene, GTPase gene DOID:6420 pulmonary valve stenosis ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:28492532 8952216 Hras HRas proto-oncogene, GTPase gene DOID:6536 plasma cell neoplasm ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:730881 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma treatment ISO RGD:730881 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:10791191|REF_RGD_ID:14688055 8952216 Hras HRas proto-oncogene, GTPase gene DOID:686 liver carcinoma ISO RGD:2827 D RGD:9068941 20200609 RGD DNA:hypomethylation PMID:3345576|REF_RGD_ID:14694848 8952216 Hras HRas proto-oncogene, GTPase gene DOID:7608 parathyroid adenoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma PMID:25741868|PMID:35738466 8952216 Hras HRas proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814359|PMID:26121086 8952216 Hras HRas proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:730881 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:8947 diabetic retinopathy ISO RGD:2827 D RGD:9068941 20200609 RGD PMID:14988264|REF_RGD_ID:1358731 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9000217 Stomach Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11397402|PMID:26558449 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9000294 Trichilemmoma ISO RGD:730881 D RGD:9068941 20200609 RGD associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human) PMID:24890286|REF_RGD_ID:12738400 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8185828 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9000918 Disease Progression ISO RGD:730881 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:12082015|PMID:32621833 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:25741868|PMID:35738466 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118494|PMID:21147764|PMID:27517622|PMID:7955063 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11552296|PMID:26558449|PMID:3433577 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730881 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12835555|PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:20859122|PMID:20937837|PMID:21438134|PMID:21495179|PMID:21850009|PMID:22256804|PMID:22499344|PMID:22683711|PMID:22726224|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27444071|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31775759|PMID:32732226|PMID:33027564|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12835555|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32165824|PMID:33027564 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9002762 Ovarian Neoplasms onset ISO RGD:730881 D RGD:9068941 20200609 RGD protein:increased expression:endometrial stroma (human) PMID:9641239|REF_RGD_ID:13441555 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9002801 Recurrence ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9003196 Penile Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355852 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salivary gland neoplasm PMID:17384584|PMID:19255327|PMID:19773371|PMID:23406027|PMID:24006476|PMID:25157968|PMID:25695684|PMID:25741868 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9003571 Paraproteinemias ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9004464 Skin Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15958052|PMID:18758463|PMID:24898257|PMID:26558449|PMID:8330346|PMID:8508502|PMID:9766437 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28489335|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:3018526|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33027564|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23877152 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:730881 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9005120 Pigmented Nevus ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PIGMENTED MOLES PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:32165824 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9005172 Lung Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10779650|PMID:11307925|PMID:11552296|PMID:12765245|PMID:15902970 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2827 D RGD:9068941 20200609 RGD DNA:mutation: :p.G12E (rat) PMID:19652463|REF_RGD_ID:2314834 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376698|PMID:8185828 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9005343 Splenic Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26558449 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2827 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina blood vessel PMID:18514235|REF_RGD_ID:2314841 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9005820 Congenital Myopathy with Excess of Muscle Spindles ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with excess of muscle spindles PMID:11150980|PMID:1362901|PMID:15843272|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17384584|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19255327|PMID:19371735|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:23406027|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25070542|PMID:25157968|PMID:25668678|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26001911|PMID:26467025|PMID:26619011|PMID:26778095|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8626650|PMID:8960317 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9005873 Tongue Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20043093 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9005873 Tongue Neoplasms susceptibility ISO RGD:730881 D RGD:9068941 20200609 RGD PMID:20043093|REF_RGD_ID:12738401 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:730881 D RGD:7240710 20180130 OMIM 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2 PMID:12727991|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:19855393|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:32165824 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532|PMID:9536098 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9007188 Liver Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10874023|PMID:12082015|PMID:12127263|PMID:16410370|PMID:17514646 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms ISO RGD:2827 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:oral region PMID:19283661|REF_RGD_ID:2314840 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9007502 Brain Neoplasms ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12115494|PMID:18245498|PMID:18829283|PMID:22048643|PMID:23877152 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9008192 Neoplastic Processes ISO RGD:730881 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12082015 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9008386 Hydrops Fetalis ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:12835555|PMID:16170316|PMID:16329078|PMID:16443854|PMID:17384584|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18642361|PMID:19255327|PMID:19773371|PMID:20658932|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25741868|PMID:26561417|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27444071|PMID:28371260|PMID:28492532|PMID:31222966|PMID:31775759 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9008386 Hydrops Fetalis ISO RGD:730881 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Fetal edema PMID:12835555|PMID:16170316|PMID:16329078|PMID:16443854|PMID:17384584|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18642361|PMID:19255327|PMID:19773371|PMID:20658932|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24224811|PMID:24390138|PMID:25157968|PMID:25741868|PMID:26561417|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27444071|PMID:28371260|PMID:28492532|PMID:30191474|PMID:31222966|PMID:31775759|PMID:33027564 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16478791|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28371260|PMID:28489335|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:3018526|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31394527|PMID:32165824|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myelogenous leukemia PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143 8952216 Hras HRas proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:730881 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143 8952241 Hsd17b13 hydroxysteroid 17-beta dehydrogenase 13 gene DOID:630 genetic disease ISO RGD:1342842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952241 Hsd17b13 hydroxysteroid 17-beta dehydrogenase 13 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1342842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8952241 Hsd17b13 hydroxysteroid 17-beta dehydrogenase 13 gene DOID:9452 steatotic liver disease ISO RGD:1342842 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HSD17B13 POLYMORPHISM PMID:29562163|PMID:34930143 8952253 Pinlyp phospholipase A2 inhibitor and LY6/PLAUR domain containing gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:6771275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8952253 Pinlyp phospholipase A2 inhibitor and LY6/PLAUR domain containing gene DOID:5419 schizophrenia ISO RGD:6771275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8952253 Pinlyp phospholipase A2 inhibitor and LY6/PLAUR domain containing gene DOID:630 genetic disease ISO RGD:6771275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952266 Ccer1 coiled-coil glutamate rich protein 1 gene DOID:630 genetic disease ISO RGD:1606687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952289 Adad2 adenosine deaminase domain containing 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1602291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 8952289 Adad2 adenosine deaminase domain containing 2 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1602291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8952289 Adad2 adenosine deaminase domain containing 2 gene DOID:630 genetic disease ISO RGD:1602291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952304 Neurod2 neuronal differentiation 2 gene DOID:0112208 developmental and epileptic encephalopathy 72 ISO RGD:1344395 D RGD:7240710 20190424 OMIM 8952304 Neurod2 neuronal differentiation 2 gene DOID:0112208 developmental and epileptic encephalopathy 72 ISO RGD:1344395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 72 PMID:25741868|PMID:30323019 8952304 Neurod2 neuronal differentiation 2 gene DOID:630 genetic disease ISO RGD:1344395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952308 Ackr2 atypical chemokine receptor 2 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1353783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8952308 Ackr2 atypical chemokine receptor 2 gene DOID:630 genetic disease ISO RGD:1353783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952368 Trak2 trafficking kinesin protein 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1352646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8952368 Trak2 trafficking kinesin protein 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1352646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8952368 Trak2 trafficking kinesin protein 2 gene DOID:630 genetic disease ISO RGD:1352646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952368 Trak2 trafficking kinesin protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352646 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8952368 Trak2 trafficking kinesin protein 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1352646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8952368 Trak2 trafficking kinesin protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8952368 Trak2 trafficking kinesin protein 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1352646 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8952368 Trak2 trafficking kinesin protein 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1352646 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8952419 Skil SKI like proto-oncogene gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1314830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 8952419 Skil SKI like proto-oncogene gene DOID:10283 prostate cancer ISO RGD:1314830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8952419 Skil SKI like proto-oncogene gene DOID:1062 Fanconi syndrome ISO RGD:1314830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8952419 Skil SKI like proto-oncogene gene DOID:37 skin disease ISO RGD:1314830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8952419 Skil SKI like proto-oncogene gene DOID:3770 pulmonary fibrosis ISO RGD:1314830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23590892 8952419 Skil SKI like proto-oncogene gene DOID:5199 ureteral obstruction ISO RGD:621399 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:19382458|REF_RGD_ID:2308888 8952419 Skil SKI like proto-oncogene gene DOID:630 genetic disease ISO RGD:1314830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952419 Skil SKI like proto-oncogene gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621399 D RGD:9068941 20200609 RGD PMID:19189315|REF_RGD_ID:2308901 8952419 Skil SKI like proto-oncogene gene DOID:9004018 Paraquat Lung ISO RGD:1314830 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23590892 8952419 Skil SKI like proto-oncogene gene DOID:9007964 Arsenic Poisoning ISO RGD:1314830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8952435 DAPK1 death associated protein kinase 1 gene DOID:13223 uterine fibroid ISO RGD:1323186 D RGD:9068941 20231102 RGD DNA:hypermethylation:uterus (human) PMID:23818951|REF_RGD_ID:401851920 8952435 Dapk1 death associated protein kinase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874806 8952435 Dapk1 death associated protein kinase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8952435 Dapk1 death associated protein kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:1323186 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:12124340|REF_RGD_ID:734875 8952435 Dapk1 death associated protein kinase 1 gene DOID:1579 respiratory system disease ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 8952435 Dapk1 death associated protein kinase 1 gene DOID:2661 myoepithelioma ISO RGD:1323186 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8952435 Dapk1 death associated protein kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 8952435 Dapk1 death associated protein kinase 1 gene DOID:299 adenocarcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172992 8952435 Dapk1 death associated protein kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11313923 8952435 Dapk1 death associated protein kinase 1 gene DOID:4251 conjunctival disease ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 8952435 Dapk1 death associated protein kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133271 8952435 Dapk1 death associated protein kinase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23872714 8952435 Dapk1 death associated protein kinase 1 gene DOID:630 genetic disease ISO RGD:1323186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952435 Dapk1 death associated protein kinase 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8952435 Dapk1 death associated protein kinase 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17319784 8952435 Dapk1 death associated protein kinase 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8952435 Dapk1 death associated protein kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172992 8952435 Dapk1 death associated protein kinase 1 gene DOID:9005715 Neoplasms, Second Primary ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874806 8952435 Dapk1 death associated protein kinase 1 gene DOID:9007502 Brain Neoplasms ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17319784 8952435 Dapk1 death associated protein kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1323186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874806 8952481 Nptn neuroplastin gene DOID:10763 hypertension ISO RGD:733531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8952481 Nptn neuroplastin gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8952481 Nptn neuroplastin gene DOID:2717 Bloom syndrome ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8952481 Nptn neuroplastin gene DOID:3320 Tay-Sachs disease ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 8952481 Nptn neuroplastin gene DOID:5419 schizophrenia ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8952481 Nptn neuroplastin gene DOID:630 genetic disease ISO RGD:733531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952481 Nptn neuroplastin gene DOID:9007102 Myocardial Ischemia ISO RGD:733531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8952481 Nptn neuroplastin gene DOID:9008582 Developmental Disease ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8952481 Nptn neuroplastin gene DOID:9256 colorectal cancer ISO RGD:733531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8952500 Maf1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1601952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8952500 Maf1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1601952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8952500 Maf1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:4621 holoprosencephaly ISO RGD:1601952 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8952500 Maf1 MAF1 homolog, negative regulator of RNA polymerase III gene DOID:630 genetic disease ISO RGD:1601952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:0050779 hydrolethalus syndrome ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:0060668 anencephaly ISO RGD:1606679 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anencephalus | ClinVar Annotator: match by term: Anencephaly PMID:25741868|PMID:27055666|PMID:31680349 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1606679 D RGD:7240710 20180130 OMIM 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 1 PMID:15843405|PMID:18648327|PMID:19400947|PMID:19656802|PMID:25741868|PMID:28492532 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:1682 congenital heart disease ISO RGD:1606679 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:27055666|PMID:31680349 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:2785 Dandy-Walker syndrome ISO RGD:1606679 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dandy-Walker malformation PMID:25741868|PMID:28492532|PMID:30697592|PMID:31474318 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:5419 schizophrenia ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:630 genetic disease ISO RGD:1606679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:8488 polyhydramnios ISO RGD:1606679 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868|PMID:27055666|PMID:31680349 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:9000355 Neurodevelopmental Disorder with Microcephaly and Gray Sclerae ISO RGD:1606679 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE PMID:25741868|PMID:27055666|PMID:28454995|PMID:28492532|PMID:30697592|PMID:31444731|PMID:31474318|PMID:34415064|PMID:36125428 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8952517 Hyls1 HYLS1 centriolar and ciliogenesis associated gene DOID:9007661 Dwarfism ISO RGD:1606679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8952553 Rbbp8nl RBBP8 N-terminal like gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8952553 Rbbp8nl RBBP8 N-terminal like gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1353930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8952553 Rbbp8nl RBBP8 N-terminal like gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8952553 Rbbp8nl RBBP8 N-terminal like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8952553 Rbbp8nl RBBP8 N-terminal like gene DOID:630 genetic disease ISO RGD:1353930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952571 Cops6 COP9 signalosome subunit 6 gene DOID:10283 prostate cancer ISO RGD:1320520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8952571 Cops6 COP9 signalosome subunit 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8952571 Cops6 COP9 signalosome subunit 6 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320520 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8952571 Cops6 COP9 signalosome subunit 6 gene DOID:630 genetic disease ISO RGD:1320520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1344755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1344755 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:1344755 D RGD:7240710 20180130 OMIM 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:0110138 Bardet-Biedl syndrome 16 ISO RGD:1344755 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:16199547|PMID:17576681|PMID:20835237|PMID:22190896|PMID:22626039|PMID:23188109|PMID:25741868|PMID:27486776|PMID:28492532|PMID:32483926|PMID:9536098 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:12712 nephronophthisis ISO RGD:1623115 D RGD:9068941 20220929 MouseDO 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1344755 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:1540 parathyroid carcinoma ISO RGD:1344755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1344755 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16199547|PMID:20835237|PMID:21866095|PMID:22190896|PMID:23559409|PMID:25741868|PMID:28492532|PMID:31844813 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:2975 cystic kidney disease ISO RGD:1344755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835237 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:557 kidney disease ISO RGD:1344755 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:5679 retinal disease ISO RGD:1344755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835237 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:630 genetic disease ISO RGD:1344755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20835237|PMID:22190896|PMID:25741868|PMID:28492532 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9002186 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 ISO RGD:1344755 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 PMID:22729224|PMID:23745724|PMID:24705253|PMID:25087610|PMID:28492532 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1344755 D RGD:7240710 20180130 OMIM 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1344755 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SDCCAG8-related condition | ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:16199547|PMID:17576681|PMID:20835237|PMID:21866095|PMID:22190896|PMID:22626039|PMID:23188109|PMID:23559409|PMID:25640679|PMID:25741868|PMID:26968886|PMID:27486776|PMID:28492532|PMID:31844813|PMID:32432520|PMID:32483926|PMID:9536098 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8952591 Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8952622 Kcns1 potassium voltage-gated channel modifier subfamily S member 1 gene DOID:2234 focal epilepsy ISO RGD:735720 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8952622 Kcns1 potassium voltage-gated channel modifier subfamily S member 1 gene DOID:630 genetic disease ISO RGD:735720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952622 Kcns1 potassium voltage-gated channel modifier subfamily S member 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:735720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8952622 Kcns1 potassium voltage-gated channel modifier subfamily S member 1 gene DOID:9428 intracranial hypertension ISO RGD:735720 D RGD:9068941 20230727 RGD mRNA:increased expression:neocortex,Pyramidal cells (human) PMID:27487831|REF_RGD_ID:329969876 8952635 Gen1 GEN1 Holliday junction 5' flap endonuclease gene DOID:10283 prostate cancer ISO RGD:1606393 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: GEN1-related prostate cancer PMID:25741868|PMID:28492532 8952635 Gen1 GEN1 Holliday junction 5' flap endonuclease gene DOID:630 genetic disease ISO RGD:1606393 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532 8952635 Gen1 GEN1 Holliday junction 5' flap endonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:26845104|PMID:28492532|PMID:9536098 8952635 Gen1 GEN1 Holliday junction 5' flap endonuclease gene DOID:9008939 Breast Neoplasms ISO RGD:1606393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:25741868|PMID:28492532 8952658 Phactr3 phosphatase and actin regulator 3 gene DOID:630 genetic disease ISO RGD:1605886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952713 Paqr8 progestin and adipoQ receptor family member 8 gene DOID:630 genetic disease ISO RGD:1323309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952718 Pip4p2 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2 gene DOID:630 genetic disease ISO RGD:1602110 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952730 Ccdc186 coiled-coil domain containing 186 gene DOID:630 genetic disease ISO RGD:1316183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952730 Ccdc186 coiled-coil domain containing 186 gene DOID:6420 pulmonary valve stenosis ISO RGD:1316183 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:33259146 8952759 Stard8 StAR related lipid transfer domain containing 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8952759 Stard8 StAR related lipid transfer domain containing 8 gene DOID:12849 autistic disorder ISO RGD:1351860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8952759 Stard8 StAR related lipid transfer domain containing 8 gene DOID:630 genetic disease ISO RGD:1351860 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8952759 Stard8 StAR related lipid transfer domain containing 8 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 8952759 Stard8 StAR related lipid transfer domain containing 8 gene DOID:9008939 Breast Neoplasms ISO RGD:1351860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8952791 Hipk4 homeodomain interacting protein kinase 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1316795 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8952791 Hipk4 homeodomain interacting protein kinase 4 gene DOID:10283 prostate cancer ISO RGD:1316795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8952791 Hipk4 homeodomain interacting protein kinase 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8952791 Hipk4 homeodomain interacting protein kinase 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8952791 Hipk4 homeodomain interacting protein kinase 4 gene DOID:2340 craniosynostosis ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8952791 Hipk4 homeodomain interacting protein kinase 4 gene DOID:630 genetic disease ISO RGD:1316795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952791 Hipk4 homeodomain interacting protein kinase 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8952791 Hipk4 homeodomain interacting protein kinase 4 gene DOID:9269 maple syrup urine disease ISO RGD:1316795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8952791 Hipk4 homeodomain interacting protein kinase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316795 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8952810 Ppp1r9a protein phosphatase 1 regulatory subunit 9A gene DOID:11832 visual epilepsy susceptibility ISO RGD:1552999 D RGD:9068941 20200609 RGD PMID:22357852|REF_RGD_ID:10043800 8952810 Ppp1r9a protein phosphatase 1 regulatory subunit 9A gene DOID:12858 Huntington's disease ISO RGD:1350094 D RGD:9068941 20200609 RGD mRNA:decreased expression:caudate nucleus PMID:20089533|REF_RGD_ID:10043799 8952810 Ppp1r9a protein phosphatase 1 regulatory subunit 9A gene DOID:12858 Huntington's disease ISO RGD:1552999 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum(mouse) PMID:20089533|REF_RGD_ID:10043799 8952810 Ppp1r9a protein phosphatase 1 regulatory subunit 9A gene DOID:224 transient cerebral ischemia treatment ISO RGD:632280 D RGD:9068941 20200609 RGD PMID:21278085|REF_RGD_ID:10043805 8952810 Ppp1r9a protein phosphatase 1 regulatory subunit 9A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8952810 Ppp1r9a protein phosphatase 1 regulatory subunit 9A gene DOID:630 genetic disease ISO RGD:1350094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952810 Ppp1r9a protein phosphatase 1 regulatory subunit 9A gene DOID:684 hepatocellular carcinoma onset ISO RGD:632280 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:20935162|REF_RGD_ID:10002734 8952810 Ppp1r9a protein phosphatase 1 regulatory subunit 9A gene DOID:9000641 Pain treatment ISO RGD:632280 D RGD:9068941 20200609 RGD PMID:20359166|REF_RGD_ID:10002735 8952842 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8952842 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8952842 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8952842 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:1148 polydactyly ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8952842 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8952842 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:630 genetic disease ISO RGD:1602704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8952842 Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8952870 Ncald neurocalcin delta gene DOID:0080600 COVID-19 ISO RGD:1348281 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8952870 Ncald neurocalcin delta gene DOID:0111590 Cohen syndrome ISO RGD:1348281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8952870 Ncald neurocalcin delta gene DOID:630 genetic disease ISO RGD:1348281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0050700 cardiomyopathy ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10620750 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0050741 alcohol dependence treatment ISO RGD:3046 D RGD:9068941 20240127 RGD PMID:34453945|REF_RGD_ID:401959604 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:25405740|REF_RGD_ID:13210782 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0060001 withdrawal disorder ISO RGD:3046 D RGD:9068941 20231216 RGD associated with morphine dependence;protein:increased phosphorylation:prefrontal cortex PMID:23035088|REF_RGD_ID:401938640 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0060001 withdrawal disorder ISO RGD:3046 D RGD:9068941 20240201 RGD associated with heroin dependence;protein:decreased phosphorylation:nucleus accumbens PMID:25711798|REF_RGD_ID:401959753 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0060001 withdrawal disorder ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17549049 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0060001 withdrawal disorder treatment ISO RGD:619571 D RGD:9068941 20240111 RGD associated with morphine dependence PMID:18772347|REF_RGD_ID:401950487 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:619570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:28492532 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:619570 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:619570 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0080599 Coronavirus infectious disease ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:619570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23516525 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:619570 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:619570 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:10652 Alzheimer's disease treatment ISO RGD:619571 D RGD:9068941 20200609 RGD PMID:28079060|REF_RGD_ID:13800563 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:10808 gastric ulcer ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:25518106|REF_RGD_ID:13800896 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:12098 trigeminal neuralgia ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:13619 extrahepatic cholestasis ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:14330 Parkinson's disease ISO RGD:619570 D RGD:9068941 20240201 RGD protein:decreased phosphorylation:striatum PMID:25583483|REF_RGD_ID:401960857 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:1574 alcohol use disorder ISO RGD:3046 D RGD:9068941 20240125 RGD protein:increased expression:liver PMID:31262967|REF_RGD_ID:401959334 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:1749 squamous cell carcinoma ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:2316 brain ischemia ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:234 colon adenocarcinoma ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:24691442|REF_RGD_ID:13210775 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:2560 morphine dependence ISO RGD:3046 D RGD:9068941 20240125 RGD protein:increased phosphorylation:central amygdaloid nucleus PMID:19052216|REF_RGD_ID:401959374 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:2560 morphine dependence ISO RGD:3046 D RGD:9068941 20240127 RGD PMID:29024786|REF_RGD_ID:401959607 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:2560 morphine dependence treatment ISO RGD:619571 D RGD:9068941 20240111 RGD PMID:18772347|PMID:27461790|PMID:33609567|REF_RGD_ID:401940121|REF_RGD_ID:401940145|REF_RGD_ID:401950487 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:2870 endometrial adenocarcinoma ISO RGD:619570 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:endometrium (human) PMID:14760076|REF_RGD_ID:13703137 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:2870 endometrial adenocarcinoma treatment ISO RGD:619570 D RGD:9068941 20200609 RGD human tumor in a mouse model PMID:23402905|REF_RGD_ID:13703125 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:2871 endometrial carcinoma ISO RGD:619570 D RGD:9068941 20200609 RGD protein:increased expression:endometrium (human) PMID:29081408|REF_RGD_ID:13702082 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:2871 endometrial carcinoma severity ISO RGD:619570 D RGD:9068941 20200609 RGD protein:increased phosphorylation:endometrium (human) PMID:22459351|REF_RGD_ID:13441552 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20484496 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:3070 high grade glioma ISO RGD:619571 D RGD:9068941 20200609 RGD PMID:27256374|REF_RGD_ID:13702865 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3046 D RGD:9068941 20240201 RGD PMID:27152455|PMID:35218623|REF_RGD_ID:13800881|REF_RGD_ID:401960864 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:619570 D RGD:9068941 20200609 RGD human cells in mouse model PMID:20179210|REF_RGD_ID:14348973 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:5199 ureteral obstruction treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:28063381|REF_RGD_ID:13800569 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:5419 schizophrenia ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:630 genetic disease ISO RGD:619570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:25907942|REF_RGD_ID:13800893 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:809 cocaine abuse ISO RGD:3046 D RGD:9068941 20240125 RGD protein:increased phosphorylation:nucleus accumbens PMID:25522720|REF_RGD_ID:401851063 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9000040 Hypertrophy ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12237323 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:29037916|REF_RGD_ID:13800567 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22247605 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9001390 Testis Reperfusion Injury treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:15944243|REF_RGD_ID:13800876 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:27396351|REF_RGD_ID:13800880 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24894820 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9002211 Hyperalgesia ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12941468|PMID:27093858 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9002265 Kidney Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21813464 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9002549 Shock treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:29110153|REF_RGD_ID:13800566 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16211241 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9002955 Nerve Degeneration ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9004265 Endometrioid Carcinomas treatment ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:24917306|REF_RGD_ID:13441559 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:29364174|REF_RGD_ID:13800565 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:619570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9004462 Atrophy ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391472 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9004484 Sepsis ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15489642 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9005100 Aberrant Crypt Foci ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:23467982|REF_RGD_ID:13210776 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11884234|PMID:12083368 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:29435821|REF_RGD_ID:13800872 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20692647 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3046 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:619570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342401 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9006205 Animal Disease Models ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:3046 D RGD:9068941 20240127 RGD protein:decreased phosphorylation:hippocampus PMID:36688960|REF_RGD_ID:401959611 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:619571 D RGD:9068941 20240201 RGD PMID:37736695|REF_RGD_ID:401960090 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:3046 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:25907942|REF_RGD_ID:13800893 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9007402 Gliosis ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19402951 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9007456 Female Infertility ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21177758 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9007692 Insulin Resistance treatment ISO RGD:3046 D RGD:9068941 20200609 RGD associated with polycystic ovary syndrome PMID:23349861|REF_RGD_ID:13800789 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9007715 Endometrial Neoplasms treatment ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:24917306|REF_RGD_ID:13441559 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:28814571|PMID:29741915|REF_RGD_ID:13800564|REF_RGD_ID:13800874 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:25345742|REF_RGD_ID:13800900 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9008023 Memory Disorders treatment ISO RGD:3046 D RGD:9068941 20240201 RGD associated with Subarachnoid Hemorrhage PMID:26822402|REF_RGD_ID:401960859 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9008023 Memory Disorders treatment ISO RGD:619571 D RGD:9068941 20240104 RGD PMID:29157831|REF_RGD_ID:401940181 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:619570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30559488 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:619570 D RGD:9068941 20200609 RGD PMID:10323886|REF_RGD_ID:13210794 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3046 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreas: PMID:27259299|REF_RGD_ID:13506776 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3046 D RGD:9068941 20200609 RGD protein:hypophosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:619571 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn: PMID:28757391|REF_RGD_ID:13506777 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3046 D RGD:9068941 20200609 RGD PMID:19164460|REF_RGD_ID:13506786 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:619571 D RGD:9068941 20200609 RGD PMID:26860984|REF_RGD_ID:13506775 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9970 obesity ISO RGD:619570 D RGD:9068941 20200609 RGD protein:increased phosphorylation:endometrium (human) PMID:20074784|REF_RGD_ID:13782055 8952907 Mapk3 mitogen-activated protein kinase 3 gene DOID:9975 cocaine dependence ISO RGD:3046 D RGD:9068941 20240125 RGD protein:increased phosphorylation:brain PMID:23665060|REF_RGD_ID:401851078 8952922 Tbx18 T-box transcription factor 18 gene DOID:0080205 CAKUT ISO RGD:1350500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:26235987|PMID:30143558 8952922 Tbx18 T-box transcription factor 18 gene DOID:0080207 CAKUT2 ISO RGD:1350500 D RGD:7240710 20180130 OMIM 8952922 Tbx18 T-box transcription factor 18 gene DOID:0080207 CAKUT2 ISO RGD:1350500 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction PMID:25741868|PMID:25741890|PMID:26235987|PMID:28492532|PMID:30143558 8952922 Tbx18 T-box transcription factor 18 gene DOID:630 genetic disease ISO RGD:1350500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8952922 Tbx18 T-box transcription factor 18 gene DOID:784 chronic kidney disease ISO RGD:1350500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 8952934 Cd84 CD84 molecule gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 8952934 Cd84 CD84 molecule gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8952934 Cd84 CD84 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8952934 Cd84 CD84 molecule gene DOID:630 genetic disease ISO RGD:1349028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952934 Cd84 CD84 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1349028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8952934 Cd84 CD84 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8952945 Vrtn vertebrae development associated gene DOID:1059 intellectual disability ISO RGD:1347442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8952945 Vrtn vertebrae development associated gene DOID:630 genetic disease ISO RGD:1347442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952952 Dmrta1 DMRT like family A1 gene DOID:5419 schizophrenia ISO RGD:1320325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8952952 Dmrta1 DMRT like family A1 gene DOID:630 genetic disease ISO RGD:1320325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952957 Tmem223 transmembrane protein 223 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:2303656 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8952957 Tmem223 transmembrane protein 223 gene DOID:1059 intellectual disability ISO RGD:2303656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8952957 Tmem223 transmembrane protein 223 gene DOID:630 genetic disease ISO RGD:2303656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952964 Ccdc47 coiled-coil domain containing 47 gene DOID:630 genetic disease ISO RGD:1603982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952964 Ccdc47 coiled-coil domain containing 47 gene DOID:9007682 Trichohepatoneurodevelopmental Syndrome ISO RGD:1603982 D RGD:7240710 20190410 OMIM 8952964 Ccdc47 coiled-coil domain containing 47 gene DOID:9007682 Trichohepatoneurodevelopmental Syndrome ISO RGD:1603982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichohepatoneurodevelopmental syndrome PMID:25741868|PMID:30401460 8952983 Cd40 CD40 molecule gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 8952983 Cd40 CD40 molecule gene DOID:0050175 tick-borne encephalitis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16463218|REF_RGD_ID:11352252 8952983 Cd40 CD40 molecule gene DOID:0050185 erythema multiforme ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 8952983 Cd40 CD40 molecule gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) PMID:20473910|REF_RGD_ID:5490541 8952983 Cd40 CD40 molecule gene DOID:0050873 follicular lymphoma susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) PMID:20473910|REF_RGD_ID:5490541 8952983 Cd40 CD40 molecule gene DOID:0050908 myelodysplastic syndrome ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, monocyte (human) PMID:17805323|REF_RGD_ID:11520793 8952983 Cd40 CD40 molecule gene DOID:0060023 immunodeficiency with hyper IgM type 3 ISO RGD:1604657 D RGD:7240710 20190911 OMIM 8952983 Cd40 CD40 molecule gene DOID:0060023 immunodeficiency with hyper IgM type 3 ISO RGD:1604657 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 PMID:11675497|PMID:12584544|PMID:12593727|PMID:14611700|PMID:15272925|PMID:15307939|PMID:15731360|PMID:17344890|PMID:17949264|PMID:18446002|PMID:20702779|PMID:24033266|PMID:24122029|PMID:25741868|PMID:28492532|PMID:35729272 8952983 Cd40 CD40 molecule gene DOID:0060060 non-Hodgkin lymphoma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:19636010|REF_RGD_ID:11522746 8952983 Cd40 CD40 molecule gene DOID:0060180 colitis ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:15591506|REF_RGD_ID:5508169 8952983 Cd40 CD40 molecule gene DOID:0060224 atrial fibrillation treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:17392495|REF_RGD_ID:8547746 8952983 Cd40 CD40 molecule gene DOID:0060903 thrombosis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21914625|REF_RGD_ID:5490522 8952983 Cd40 CD40 molecule gene DOID:0080162 lupus nephritis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:18566369|PMID:19265127|PMID:23799000|REF_RGD_ID:7248418|REF_RGD_ID:7248425|REF_RGD_ID:7248429 8952983 Cd40 CD40 molecule gene DOID:0080544 hyper IgM syndrome ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8952983 Cd40 CD40 molecule gene DOID:0081267 graft-versus-host disease treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:18981161|REF_RGD_ID:7248735 8952983 Cd40 CD40 molecule gene DOID:10223 dermatomyositis ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 8952983 Cd40 CD40 molecule gene DOID:10591 pre-eclampsia ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:blood, monocyte (human) PMID:19221099|REF_RGD_ID:11520792 8952983 Cd40 CD40 molecule gene DOID:10652 Alzheimer's disease ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21414686|REF_RGD_ID:5490302 8952983 Cd40 CD40 molecule gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:23223173|REF_RGD_ID:8547786 8952983 Cd40 CD40 molecule gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:23223173|REF_RGD_ID:8547786 8952983 Cd40 CD40 molecule gene DOID:11263 chlamydia ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20102413|REF_RGD_ID:5132268 8952983 Cd40 CD40 molecule gene DOID:11339 pneumocystosis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:10968950|REF_RGD_ID:8547797 8952983 Cd40 CD40 molecule gene DOID:12053 cryptococcosis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:16552046|REF_RGD_ID:7248435 8952983 Cd40 CD40 molecule gene DOID:12361 Graves' disease ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:-1C>T (human) PMID:12593727|REF_RGD_ID:8547766 8952983 Cd40 CD40 molecule gene DOID:12361 Graves' disease no_association ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:-1C>T (human) PMID:15307939|REF_RGD_ID:8547769 8952983 Cd40 CD40 molecule gene DOID:12361 Graves' disease onset ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP PMID:18755875|REF_RGD_ID:8547778 8952983 Cd40 CD40 molecule gene DOID:12365 malaria severity ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:11485931|REF_RGD_ID:11352239 8952983 Cd40 CD40 molecule gene DOID:12930 dilated cardiomyopathy ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:9495297|REF_RGD_ID:13702889 8952983 Cd40 CD40 molecule gene DOID:13139 crescentic glomerulonephritis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:14569091|REF_RGD_ID:7248599 8952983 Cd40 CD40 molecule gene DOID:13378 Kawasaki disease ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446961|PMID:22446962 8952983 Cd40 CD40 molecule gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human) PMID:22645426|REF_RGD_ID:8547776 8952983 Cd40 CD40 molecule gene DOID:1790 malignant mesothelioma treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:22002241|REF_RGD_ID:11522742 8952983 Cd40 CD40 molecule gene DOID:1824 status epilepticus ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18455351 8952983 Cd40 CD40 molecule gene DOID:1909 melanoma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:17327609|REF_RGD_ID:11522745 8952983 Cd40 CD40 molecule gene DOID:1909 melanoma treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:22421945|REF_RGD_ID:11522740 8952983 Cd40 CD40 molecule gene DOID:1936 atherosclerosis ISO RGD:1615152 D RGD:9068941 20200609 RGD associated with Gram-Negative Bacterial Infections;protein:increased expression:aorta PMID:20505314|REF_RGD_ID:5490534 8952983 Cd40 CD40 molecule gene DOID:1936 atherosclerosis ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:16317521|REF_RGD_ID:1582628 8952983 Cd40 CD40 molecule gene DOID:1936 atherosclerosis treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:23984971|REF_RGD_ID:8547801 8952983 Cd40 CD40 molecule gene DOID:2018 hyperinsulinism ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8952983 Cd40 CD40 molecule gene DOID:2234 focal epilepsy ISO RGD:1604657 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8952983 Cd40 CD40 molecule gene DOID:224 transient cerebral ischemia severity ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15795333|REF_RGD_ID:11352234 8952983 Cd40 CD40 molecule gene DOID:2377 multiple sclerosis ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525955 8952983 Cd40 CD40 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) PMID:20634952|REF_RGD_ID:5490971 8952983 Cd40 CD40 molecule gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human) PMID:20190274|REF_RGD_ID:5490975 8952983 Cd40 CD40 molecule gene DOID:2841 asthma ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:19159017|PMID:19220210|REF_RGD_ID:4144188|REF_RGD_ID:5132272 8952983 Cd40 CD40 molecule gene DOID:2841 asthma ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20941750|REF_RGD_ID:4892277 8952983 Cd40 CD40 molecule gene DOID:2841 asthma treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:20205594|REF_RGD_ID:8547792 8952983 Cd40 CD40 molecule gene DOID:2942 bronchiolitis ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:19470255|REF_RGD_ID:5132271 8952983 Cd40 CD40 molecule gene DOID:2959 hyperimmunoglobulin syndrome ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:mutations:exons (human) PMID:11675497|REF_RGD_ID:1599479 8952983 Cd40 CD40 molecule gene DOID:2972 renal artery obstruction disease_progression ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:23399713|REF_RGD_ID:7248419 8952983 Cd40 CD40 molecule gene DOID:3070 high grade glioma treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:24878890|REF_RGD_ID:11352275 8952983 Cd40 CD40 molecule gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:20699612|REF_RGD_ID:5490968 8952983 Cd40 CD40 molecule gene DOID:3310 atopic dermatitis ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18693155|REF_RGD_ID:5132274 8952983 Cd40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:21436454|REF_RGD_ID:5490301 8952983 Cd40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:dendritic cell PMID:20976171|REF_RGD_ID:5490524 8952983 Cd40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21436454|REF_RGD_ID:5490301 8952983 Cd40 CD40 molecule gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:23983255|REF_RGD_ID:11522743 8952983 Cd40 CD40 molecule gene DOID:3892 insulinoma ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:17982058|REF_RGD_ID:5491180 8952983 Cd40 CD40 molecule gene DOID:3951 acute myocarditis ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:9495297|REF_RGD_ID:13702889 8952983 Cd40 CD40 molecule gene DOID:4195 hyperglycemia ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8952983 Cd40 CD40 molecule gene DOID:4450 renal cell carcinoma treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:12594303|PMID:15282531|PMID:20426873|REF_RGD_ID:11522744|REF_RGD_ID:7248440|REF_RGD_ID:7248724 8952983 Cd40 CD40 molecule gene DOID:4481 allergic rhinitis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte PMID:19086656|REF_RGD_ID:8547782 8952983 Cd40 CD40 molecule gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15210767|REF_RGD_ID:7248442 8952983 Cd40 CD40 molecule gene DOID:5050 Ehrlich tumor carcinoma treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:19269163|REF_RGD_ID:11352683 8952983 Cd40 CD40 molecule gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:plasmacytoid dendritic cell PMID:20559432|REF_RGD_ID:5490533 8952983 Cd40 CD40 molecule gene DOID:630 genetic disease ISO RGD:1604657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8952983 Cd40 CD40 molecule gene DOID:6432 pulmonary hypertension treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:25998782|REF_RGD_ID:11344970 8952983 Cd40 CD40 molecule gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1604657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome 8952983 Cd40 CD40 molecule gene DOID:707 B-cell lymphoma ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:20616215|REF_RGD_ID:5490532 8952983 Cd40 CD40 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:23143596 8952983 Cd40 CD40 molecule gene DOID:7148 rheumatoid arthritis ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP: :rs4810485 (human) PMID:20498205|REF_RGD_ID:5490972 8952983 Cd40 CD40 molecule gene DOID:783 end stage renal disease severity ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20846521|REF_RGD_ID:7248723 8952983 Cd40 CD40 molecule gene DOID:783 end stage renal disease treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:12941150|REF_RGD_ID:7248709 8952983 Cd40 CD40 molecule gene DOID:7998 hyperthyroidism treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:16756463|REF_RGD_ID:8547761 8952983 Cd40 CD40 molecule gene DOID:8283 peritonitis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15780086|REF_RGD_ID:7248438 8952983 Cd40 CD40 molecule gene DOID:848 arthritis ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human) PMID:23256180|REF_RGD_ID:7248721 8952983 Cd40 CD40 molecule gene DOID:8552 chronic myeloid leukemia ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, dendritic cell (human) PMID:16527350|REF_RGD_ID:11520794 8952983 Cd40 CD40 molecule gene DOID:8567 Hodgkin's lymphoma ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7621881 8952983 Cd40 CD40 molecule gene DOID:8577 ulcerative colitis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:intestine, epithelial cell PMID:20133813|REF_RGD_ID:5490590 8952983 Cd40 CD40 molecule gene DOID:8584 Burkitt lymphoma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:9192773|REF_RGD_ID:11520790 8952983 Cd40 CD40 molecule gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:619830 D RGD:9068941 20200609 RGD protein:decreased expression:ileum PMID:21240009|REF_RGD_ID:5490305 8952983 Cd40 CD40 molecule gene DOID:874 bacterial pneumonia ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20102413|REF_RGD_ID:5132268 8952983 Cd40 CD40 molecule gene DOID:8778 Crohn's disease ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:intestine, epithelial cell PMID:20133813|REF_RGD_ID:5490590 8952983 Cd40 CD40 molecule gene DOID:8778 Crohn's disease susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) PMID:20634952|REF_RGD_ID:5490971 8952983 Cd40 CD40 molecule gene DOID:8893 psoriasis susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs4810485) (human) PMID:21645569|REF_RGD_ID:5490300 8952983 Cd40 CD40 molecule gene DOID:8923 skin melanoma disease_progression ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:8952530|REF_RGD_ID:8547772 8952983 Cd40 CD40 molecule gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood, B lymphocyte (human) PMID:17654056|REF_RGD_ID:11344977 8952983 Cd40 CD40 molecule gene DOID:9000081 Lymphatic Metastasis ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:snps:5' utr, intron:c.-1T>C, c.51+914T>G (rs1883832, rs4810485) (human) PMID:21912605|REF_RGD_ID:8547780 8952983 Cd40 CD40 molecule gene DOID:9000403 Animal Mammary Neoplasms treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15922965|REF_RGD_ID:8547789 8952983 Cd40 CD40 molecule gene DOID:9000469 Viral Myocarditis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:10440754|REF_RGD_ID:13702887 8952983 Cd40 CD40 molecule gene DOID:9000808 Hypercholesterolemia ISO RGD:619830 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21574786|REF_RGD_ID:7248754 8952983 Cd40 CD40 molecule gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:21574786|REF_RGD_ID:7248754 8952983 Cd40 CD40 molecule gene DOID:9000998 Brain Injuries treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:23924471|REF_RGD_ID:7248749 8952983 Cd40 CD40 molecule gene DOID:9001488 Human Influenza ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:19922665|REF_RGD_ID:5132270 8952983 Cd40 CD40 molecule gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:rs1883832 (human) PMID:21091218|REF_RGD_ID:5490523 8952983 Cd40 CD40 molecule gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:22826618|REF_RGD_ID:11352297 8952983 Cd40 CD40 molecule gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:14741776|REF_RGD_ID:8547795 8952983 Cd40 CD40 molecule gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:20616215|REF_RGD_ID:5490532 8952983 Cd40 CD40 molecule gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:25297507|REF_RGD_ID:13702884 8952983 Cd40 CD40 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20435931|REF_RGD_ID:5490544 8952983 Cd40 CD40 molecule gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:15210767|REF_RGD_ID:7248442 8952983 Cd40 CD40 molecule gene DOID:9002869 Schistosomiasis Mansoni treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:10623823|REF_RGD_ID:11520789 8952983 Cd40 CD40 molecule gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:20226305|REF_RGD_ID:5132269 8952983 Cd40 CD40 molecule gene DOID:9004009 Reperfusion Injury ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:12388354|REF_RGD_ID:5508171 8952983 Cd40 CD40 molecule gene DOID:9004283 Transplant Rejection disease_progression ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:15221125|REF_RGD_ID:7248441 8952983 Cd40 CD40 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:14698004|REF_RGD_ID:8547788 8952983 Cd40 CD40 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:21472009|REF_RGD_ID:7248755 8952983 Cd40 CD40 molecule gene DOID:9004484 Sepsis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:decreased nitrosylation:monocyte PMID:20473113|REF_RGD_ID:5490974 8952983 Cd40 CD40 molecule gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21137078|REF_RGD_ID:8547744 8952983 Cd40 CD40 molecule gene DOID:9005372 Inflammation ISO RGD:1615152 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:17804565|REF_RGD_ID:8547791 8952983 Cd40 CD40 molecule gene DOID:9005930 Endotoxemia ISO RGD:1615152 D RGD:9068941 20200609 RGD protein:decreased nitrosylation:macrophage PMID:20473113|REF_RGD_ID:5490974 8952983 Cd40 CD40 molecule gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:25993320|REF_RGD_ID:11251055 8952983 Cd40 CD40 molecule gene DOID:9006332 Vascular Calcification ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease PMID:16494885|REF_RGD_ID:7248436 8952983 Cd40 CD40 molecule gene DOID:9006372 Animal Helminthiasis ISO RGD:1615152 D RGD:9068941 20200609 RGD protein:increased expression:plasmacytoid dendritic cell PMID:20702728|REF_RGD_ID:5490530 8952983 Cd40 CD40 molecule gene DOID:9006623 Murine Acquired Immunodeficiency Syndrome susceptibility ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:12438641|REF_RGD_ID:11520795 8952983 Cd40 CD40 molecule gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:17188497|REF_RGD_ID:5491181 8952983 Cd40 CD40 molecule gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 8952983 Cd40 CD40 molecule gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16463218|REF_RGD_ID:11352252 8952983 Cd40 CD40 molecule gene DOID:9007096 Stroke ISO RGD:1604657 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20456428|REF_RGD_ID:5490543 8952983 Cd40 CD40 molecule gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:19565716|REF_RGD_ID:11352677 8952983 Cd40 CD40 molecule gene DOID:9007110 Subacute Combined Degeneration ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:16716410|REF_RGD_ID:2313422 8952983 Cd40 CD40 molecule gene DOID:9007110 Subacute Combined Degeneration treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:16716410|REF_RGD_ID:2313422 8952983 Cd40 CD40 molecule gene DOID:9007355 Hashimoto Disease ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17558708|REF_RGD_ID:8547767 8952983 Cd40 CD40 molecule gene DOID:9007692 Insulin Resistance ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8952983 Cd40 CD40 molecule gene DOID:9007899 Animal Viral Hepatitis severity ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:21360722|REF_RGD_ID:5490303 8952983 Cd40 CD40 molecule gene DOID:9008538 Neisseriaceae Infections ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:19202131|REF_RGD_ID:5132273 8952983 Cd40 CD40 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043144 8952983 Cd40 CD40 molecule gene DOID:9074 systemic lupus erythematosus ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP: :rs3765456 (human) PMID:23256180|REF_RGD_ID:7248721 8952983 Cd40 CD40 molecule gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1604657 D RGD:9068941 20200609 RGD DNA:SNP: :rs4810485 (human) PMID:21914625|REF_RGD_ID:5490522 8952983 Cd40 CD40 molecule gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1615152 D RGD:9068941 20200609 RGD PMID:14573667|REF_RGD_ID:8547750 8952983 Cd40 CD40 molecule gene DOID:9182 pemphigus ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:21255096|REF_RGD_ID:5490304 8952983 Cd40 CD40 molecule gene DOID:9201 lichen planus ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:18050371|REF_RGD_ID:8547765 8952983 Cd40 CD40 molecule gene DOID:9513 plasma cell leukemia ISO RGD:1604657 D RGD:9068941 20200609 RGD PMID:20616215|REF_RGD_ID:5490532 8952983 Cd40 CD40 molecule gene DOID:9538 multiple myeloma treatment ISO RGD:1604657 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:10866315|REF_RGD_ID:11522720 8952983 Cd40 CD40 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604657 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22505539|REF_RGD_ID:6893375 8952983 Cd40 CD40 molecule gene DOID:9970 obesity ISO RGD:1604657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8952983 Cd40 CD40 molecule gene DOID:9970 obesity treatment ISO RGD:619830 D RGD:9068941 20200609 RGD PMID:21670556|REF_RGD_ID:7248753 8952999 Fmo2 flavin containing dimethylaniline monoxygenase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733627 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8952999 Fmo2 flavin containing dimethylaniline monoxygenase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:733627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8952999 Fmo2 flavin containing dimethylaniline monoxygenase 2 gene DOID:289 endometriosis ISO RGD:733627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8952999 Fmo2 flavin containing dimethylaniline monoxygenase 2 gene DOID:630 genetic disease ISO RGD:733627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8952999 Fmo2 flavin containing dimethylaniline monoxygenase 2 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:733627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8952999 Fmo2 flavin containing dimethylaniline monoxygenase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8953012 Fabp2 fatty acid binding protein 2 gene DOID:13001 carotid stenosis ISO RGD:735842 D RGD:9068941 20200609 RGD PMID:16013194|REF_RGD_ID:1582392 8953012 Fabp2 fatty acid binding protein 2 gene DOID:14018 alcoholic liver cirrhosis onset ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, homozygosity of the T allele associated with later onset PMID:16289894|REF_RGD_ID:1578455 8953012 Fabp2 fatty acid binding protein 2 gene DOID:3393 coronary artery disease ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:SNP:CDS:2445G>A, amino acid A54T, associated with Diabetes Mellitus, Type 2 (MeSH:D003924) in women PMID:15059615|REF_RGD_ID:1626412 8953012 Fabp2 fatty acid binding protein 2 gene DOID:630 genetic disease ISO RGD:735842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953012 Fabp2 fatty acid binding protein 2 gene DOID:783 end stage renal disease ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, associated with Diabetes Mellitus, Type 2 (MeSH:D003924) PMID:16249461|REF_RGD_ID:1578457 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, in a Brazilian population PMID:16249461|REF_RGD_ID:1578457 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India PMID:16919542|REF_RGD_ID:1626401 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:735842 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.A54T (human) PMID:10999802|REF_RGD_ID:1300313 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9006646 Metabolic Syndrome ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, in a normal glucose tolerant population from urban south India PMID:16919542|REF_RGD_ID:1626401 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9007096 Stroke ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A54T (human) PMID:10946885|REF_RGD_ID:1300312 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9007692 Insulin Resistance ISO RGD:735842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF PMID:10946885|PMID:10999802|PMID:12161503|PMID:14666368|PMID:15572430|PMID:7883976|PMID:9253345 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9007692 Insulin Resistance no_association ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups PMID:17211557|REF_RGD_ID:1626407 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, in a population from urban south India PMID:16919542|REF_RGD_ID:1626401 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9970 obesity ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:p.A54T (human) PMID:14981227|REF_RGD_ID:1626400 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9970 obesity no_association ISO RGD:735842 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:amino acid A54T, in Chilean Aymara and Mapuche ethnic groups PMID:17211557|REF_RGD_ID:1626407 8953012 Fabp2 fatty acid binding protein 2 gene DOID:9970 obesity onset ISO RGD:735842 D RGD:9068941 20200609 RGD Early onset of obesity and resistance to reducing visceral white adipose tissue; DNA:polymorphism:CDS:amino acid A54T, in Japanese women with a BMI > 25 PMID:15620432|REF_RGD_ID:1578458 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:0080436 developmental and epileptic encephalopathy 4 ISO RGD:1347522 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 PMID:25741868 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1347522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:12849 autistic disorder ISO RGD:1347522 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:1826 epilepsy ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:630 genetic disease ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30612693|PMID:30945334 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9004009 Reperfusion Injury ISO RGD:1563691 D RGD:9068941 20200609 RGD protein:increased activity:hippocampus PMID:16805806|REF_RGD_ID:2293339 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347522 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30612693|PMID:30945334 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9005897 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES ISO RGD:1347522 D RGD:7240710 20190918 OMIM 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9005897 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES ISO RGD:1347522 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES PMID:25741868|PMID:29758562|PMID:30612693|PMID:30945334 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8953030 Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 gene DOID:9008582 Developmental Disease ISO RGD:1347522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8953091 Cep85l centrosomal protein 85 like gene DOID:0050453 lissencephaly ISO RGD:1346539 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Posterior Predominant Lissencephaly PMID:12910438|PMID:25741868|PMID:29706646|PMID:32097629|PMID:32097630 8953091 Cep85l centrosomal protein 85 like gene DOID:0050700 cardiomyopathy ISO RGD:1346539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25593317|PMID:25611685|PMID:25741868|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:30242101|PMID:31705731|PMID:31737537 8953091 Cep85l centrosomal protein 85 like gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1346539 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Intrinsic cardiomyopathy PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 8953091 Cep85l centrosomal protein 85 like gene DOID:0060319 cardiac arrest ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 8953091 Cep85l centrosomal protein 85 like gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1346539 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8953091 Cep85l centrosomal protein 85 like gene DOID:0110324 hypertrophic cardiomyopathy 18 ISO RGD:1346539 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26573135|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 8953091 Cep85l centrosomal protein 85 like gene DOID:0110439 dilated cardiomyopathy 1P ISO RGD:1346539 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:12610310|PMID:12639993|PMID:12705874|PMID:16235537|PMID:16829191|PMID:16897780|PMID:17655857|PMID:18056057|PMID:18241046|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24451198|PMID:24503780|PMID:24909667|PMID:25351510|PMID:25563649|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26573135|PMID:26688388|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28771489|PMID:28790153|PMID:29501609|PMID:30012515|PMID:30012837|PMID:30242101|PMID:30794913|PMID:30847666|PMID:30871747|PMID:31705731|PMID:31737537|PMID:33495597|PMID:35297759 8953091 Cep85l centrosomal protein 85 like gene DOID:0112229 lissencephaly 10 ISO RGD:1346539 D RGD:7240710 20200527 OMIM 8953091 Cep85l centrosomal protein 85 like gene DOID:0112229 lissencephaly 10 ISO RGD:1346539 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lissencephaly 10 PMID:12910438|PMID:18241046|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29706646|PMID:32097629|PMID:32097630 8953091 Cep85l centrosomal protein 85 like gene DOID:1059 intellectual disability ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8953091 Cep85l centrosomal protein 85 like gene DOID:10907 microcephaly ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8953091 Cep85l centrosomal protein 85 like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346539 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:26688388|PMID:27532257|PMID:28492532|PMID:28600387|PMID:28790153|PMID:31705731|PMID:31737537 8953091 Cep85l centrosomal protein 85 like gene DOID:12849 autistic disorder ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 8953091 Cep85l centrosomal protein 85 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1346539 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12610310|PMID:12639993|PMID:16235537|PMID:16897780|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30012515|PMID:30012837|PMID:30847666 8953091 Cep85l centrosomal protein 85 like gene DOID:14289 Ebstein anomaly ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ebstein anomaly 8953091 Cep85l centrosomal protein 85 like gene DOID:1826 epilepsy ISO RGD:1346539 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8953091 Cep85l centrosomal protein 85 like gene DOID:630 genetic disease ISO RGD:1346539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953091 Cep85l centrosomal protein 85 like gene DOID:9000495 Tremor ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8953091 Cep85l centrosomal protein 85 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:32097630 8953091 Cep85l centrosomal protein 85 like gene DOID:9007925 Sudden Cardiac Death ISO RGD:1346539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:12639993|PMID:16235537|PMID:17655857|PMID:21167350|PMID:21332051|PMID:22137083|PMID:23861362|PMID:24033266|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:28600387 8953129 Jak1 Janus kinase 1 gene DOID:0080162 lupus nephritis ISO RGD:69102 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:31182691 8953129 Jak1 Janus kinase 1 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome PMID:27993330 8953129 Jak1 Janus kinase 1 gene DOID:10283 prostate cancer severity ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:frameshift mutations PMID:29121062|REF_RGD_ID:150524355 8953129 Jak1 Janus kinase 1 gene DOID:10534 stomach cancer ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:SNP: :rs2230587A (human) PMID:27049718|REF_RGD_ID:14975290 8953129 Jak1 Janus kinase 1 gene DOID:10534 stomach cancer severity ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:frameshift mutations PMID:29121062|REF_RGD_ID:150524355 8953129 Jak1 Janus kinase 1 gene DOID:1059 intellectual disability ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8953129 Jak1 Janus kinase 1 gene DOID:11446 sciatic neuropathy ISO RGD:69056 D RGD:9068941 20211203 RGD mRNA:increased expression:spinal cord PMID:32012267|REF_RGD_ID:150527842 8953129 Jak1 Janus kinase 1 gene DOID:1380 endometrial cancer severity ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:frameshift mutations PMID:29121062|REF_RGD_ID:150524355 8953129 Jak1 Janus kinase 1 gene DOID:224 transient cerebral ischemia ISO RGD:69056 D RGD:9068941 20200609 RGD PMID:10756075|REF_RGD_ID:19165138 8953129 Jak1 Janus kinase 1 gene DOID:2394 ovarian cancer treatment ISO RGD:69102 D RGD:9068941 20200609 RGD PMID:25319391|REF_RGD_ID:19165135 8953129 Jak1 Janus kinase 1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:69102 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic ductal cell (human) PMID:28677798|REF_RGD_ID:13838745 8953129 Jak1 Janus kinase 1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69102 D RGD:9068941 20211203 RGD protein:increased phosphorylation:lung PMID:28989534|REF_RGD_ID:150524360 8953129 Jak1 Janus kinase 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:69102 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:29328487|REF_RGD_ID:13838743 8953129 Jak1 Janus kinase 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:69103 D RGD:9068941 20200609 RGD associated with Schistosomiasis Japonica PMID:27439782|REF_RGD_ID:19165137 8953129 Jak1 Janus kinase 1 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:69102 D RGD:9068941 20200609 RGD DNA:missense mutation: :c.1972G>T (p.V658F) (human) PMID:18559588|REF_RGD_ID:18936996 8953129 Jak1 Janus kinase 1 gene DOID:630 genetic disease ISO RGD:69102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20167706|PMID:25356970|PMID:28111307|PMID:28492532 8953129 Jak1 Janus kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69102 D RGD:9068941 20211203 RGD PMID:23788652|REF_RGD_ID:150524353 8953129 Jak1 Janus kinase 1 gene DOID:824 periodontitis treatment ISO RGD:69103 D RGD:9068941 20200609 RGD PMID:26825585|REF_RGD_ID:18936995 8953129 Jak1 Janus kinase 1 gene DOID:824 periodontitis treatment ISO RGD:69103 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23333931|REF_RGD_ID:18936997 8953129 Jak1 Janus kinase 1 gene DOID:8997 polycythemia vera ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycythemia rubra vera PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:21436584|PMID:21680795 8953129 Jak1 Janus kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69102 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8953129 Jak1 Janus kinase 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:69056 D RGD:9068941 20200609 RGD PMID:29452839|REF_RGD_ID:19165139 8953129 Jak1 Janus kinase 1 gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:20167706|PMID:21436584|PMID:21680795|PMID:22955920|PMID:25356970|PMID:28111307 8953129 Jak1 Janus kinase 1 gene DOID:9002669 Hypoxia ISO RGD:69056 D RGD:9068941 20211203 RGD mRNA, protein:increased expression:lung PMID:14703438|REF_RGD_ID:150527843 8953129 Jak1 Janus kinase 1 gene DOID:9005382 X-Linked Acute Leukemia ISO RGD:69102 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukemia, acute, X-linked PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:21436584|PMID:21680795 8953129 Jak1 Janus kinase 1 gene DOID:9006876 Autoinflammation, Immune Dysregulation, and Eosinophilia ISO RGD:69102 D RGD:7240710 20200930 OMIM 8953129 Jak1 Janus kinase 1 gene DOID:9006876 Autoinflammation, Immune Dysregulation, and Eosinophilia ISO RGD:69102 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophilia | ClinVar Annotator: match by term: JAK1-related condition PMID:20167706|PMID:24728327|PMID:25356970|PMID:25741868|PMID:28111307|PMID:28492532|PMID:32750333|PMID:35046931 8953129 Jak1 Janus kinase 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:69056 D RGD:9068941 20200609 RGD PMID:21369693|REF_RGD_ID:19165136 8953129 Jak1 Janus kinase 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:69102 D RGD:9068941 20200609 RGD DNA:SNPs: :rs4244165, rs17127024 (human) PMID:22901011|REF_RGD_ID:19165132 8953129 Jak1 Janus kinase 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:69103 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8953129 Jak1 Janus kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:69102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:16239216|PMID:19139102|PMID:19470474|PMID:19838194|PMID:21436584|PMID:21680795 8953129 Jak1 Janus kinase 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:69102 D RGD:9068941 20200609 RGD DNA:frameshift mutations PMID:28539123|REF_RGD_ID:18936998 8953129 Jak1 Janus kinase 1 gene DOID:9256 colorectal cancer severity ISO RGD:69102 D RGD:9068941 20211203 RGD DNA:frameshift mutations PMID:29121062|REF_RGD_ID:150524355 8953172 Bop1 BOP1 ribosomal biogenesis factor gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1321585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8953172 Bop1 BOP1 ribosomal biogenesis factor gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1321585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8953172 Bop1 BOP1 ribosomal biogenesis factor gene DOID:4621 holoprosencephaly ISO RGD:1321585 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8953172 Bop1 BOP1 ribosomal biogenesis factor gene DOID:630 genetic disease ISO RGD:1321585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953172 Bop1 BOP1 ribosomal biogenesis factor gene DOID:9000217 Stomach Neoplasms ISO RGD:1321585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8953172 Bop1 BOP1 ribosomal biogenesis factor gene DOID:9000918 Disease Progression ISO RGD:1321585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8953192 Arrdc4 arrestin domain containing 4 gene DOID:630 genetic disease ISO RGD:1323388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:0060903 thrombosis ISO RGD:1313078 D RGD:9068941 20200609 RGD PMID:9845553|REF_RGD_ID:11059524 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1313078 D RGD:9068941 20220825 MouseDO OMIM:182900 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:0110918 hereditary spherocytosis type 3 ISO RGD:1313077 D RGD:7240710 20180130 OMIM 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:0110918 hereditary spherocytosis type 3 ISO RGD:1313077 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive PMID:15071791|PMID:15384986|PMID:1638030|PMID:21212007|PMID:23241237|PMID:24033266|PMID:25741868|PMID:26002053|PMID:27292444|PMID:27667160|PMID:27863252|PMID:28492532|PMID:29105823|PMID:29396846|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31602632|PMID:31723846|PMID:32436265|PMID:32581362|PMID:32888494|PMID:33074880|PMID:33556202|PMID:3785322|PMID:8081008|PMID:8370581|PMID:8941647 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:10923 sickle cell anemia ISO RGD:1313078 D RGD:9068941 20220825 MouseDO OMIM:603903 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1313077 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive PMID:15384986|PMID:24033266|PMID:25741868|PMID:27292444|PMID:28492532|PMID:30976395|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31723846|PMID:8941647 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1313077 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive PMID:15384986|PMID:24033266|PMID:25741868|PMID:27292444|PMID:28492532|PMID:31038472|PMID:31147440|PMID:31333484|PMID:31723846|PMID:8941647 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:2355 anemia ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868|PMID:31038472|PMID:31723846|PMID:32581362 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:2373 hereditary elliptocytosis ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elliptocytosis PMID:25741868|PMID:28492532 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:583 hemolytic anemia ISO RGD:1313077 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868|PMID:28492532|PMID:32581362 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:589 congenital hemolytic anemia ISO RGD:1313077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868|PMID:26002053|PMID:28492532 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:630 genetic disease ISO RGD:1313077 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31040790|PMID:31723846|PMID:35845192 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1313077 D RGD:7240710 20180130 OMIM 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:9000212 Hereditary Pyropoikilocytosis ISO RGD:1313077 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pyropoikilocytosis, hereditary PMID:1191563|PMID:14628287|PMID:15071791|PMID:15384986|PMID:1541680|PMID:16150946|PMID:16199547|PMID:1638030|PMID:1642244|PMID:16730867|PMID:1679439|PMID:17576681|PMID:18218854|PMID:1845156|PMID:18815189|PMID:2043465|PMID:21212007|PMID:23241237|PMID:2328319|PMID:2346729|PMID:24033266|PMID:2567189|PMID:2568862|PMID:25741868|PMID:26002053|PMID:26467025|PMID:27292444|PMID:27667160|PMID:27863252|PMID:2794061|PMID:28090778|PMID:28298237|PMID:28492532|PMID:29105823|PMID:29396846|PMID:29729090|PMID:30275003|PMID:30317022|PMID:30393954|PMID:31038472|PMID:31147440|PMID:31286676|PMID:31333484|PMID:31723846|PMID:32266426|PMID:32436265|PMID:32581362|PMID:32888494|PMID:33074880|PMID:33556202|PMID:3597773|PMID:3708157|PMID:3785322|PMID:3922449|PMID:4027386|PMID:4077050|PMID:6236232|PMID:7074218|PMID:8040317|PMID:8068958|PMID:8081008|PMID:8132574|PMID:8370581|PMID:8434258|PMID:8435324|PMID:8444470|PMID:8790144|PMID:8857939|PMID:8941647|PMID:9192783|PMID:9536098|PMID:9746802 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:9000941 Elliptocytosis 2 ISO RGD:1313077 D RGD:7240710 20180130 OMIM 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:9000941 Elliptocytosis 2 ISO RGD:1313077 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE | ClinVar Annotator: match by term: Elliptocytosis 2 PMID:1191563|PMID:14628287|PMID:15071791|PMID:15384986|PMID:1541680|PMID:16150946|PMID:1638030|PMID:1642244|PMID:16730867|PMID:1679439|PMID:18218854|PMID:1845156|PMID:18783249|PMID:1878597|PMID:18815189|PMID:19593814|PMID:20197550|PMID:2043465|PMID:21212007|PMID:23241237|PMID:2328319|PMID:2346729|PMID:2384601|PMID:23974198|PMID:24033266|PMID:2567189|PMID:2568861|PMID:25741868|PMID:26002053|PMID:26467025|PMID:27292444|PMID:27667160|PMID:27863252|PMID:2794061|PMID:28090778|PMID:28492532|PMID:2895677|PMID:29105823|PMID:29396846|PMID:29729090|PMID:30317022|PMID:30393954|PMID:31038472|PMID:31130284|PMID:31147440|PMID:31286676|PMID:31333484|PMID:31723846|PMID:32266426|PMID:32436265|PMID:32581362|PMID:32641076|PMID:32888494|PMID:33074880|PMID:33556202|PMID:3597773|PMID:3708157|PMID:3785322|PMID:3922449|PMID:3940543|PMID:4027386|PMID:4077050|PMID:7074218|PMID:8040317|PMID:8068958|PMID:8081008|PMID:8132574|PMID:8370581|PMID:8434258|PMID:8435324|PMID:8444470|PMID:8490186|PMID:8790144|PMID:8857939|PMID:8941647|PMID:9192783 8953204 Spta1 spectrin alpha, erythrocytic 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8953266 Snx25 sorting nexin 25 gene DOID:12849 autistic disorder ISO RGD:1320883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8953266 Snx25 sorting nexin 25 gene DOID:12930 dilated cardiomyopathy ISO RGD:1320883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8953266 Snx25 sorting nexin 25 gene DOID:630 genetic disease ISO RGD:1320883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953266 Snx25 sorting nexin 25 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1320883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:1314486 D RGD:9068941 20220825 MouseDO 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:10603 glucose intolerance ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21285402 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21285402 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:1826 epilepsy ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:2018 hyperinsulinism ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:2717 Bloom syndrome ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:5419 schizophrenia ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:630 genetic disease ISO RGD:1314485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:9001812 CONGENITAL DISORDER OF DEGLYCOSYLATION 2 ISO RGD:1314485 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 PMID:25741868|PMID:35045343 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:9003370 Dyslipidemias ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448|PMID:17389588 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21285402 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:9256 colorectal cancer ISO RGD:1314485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:9452 steatotic liver disease ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448|PMID:21285402 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:9970 obesity ISO RGD:1314485 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16446448|PMID:21285402 8953301 Neil1 nei like DNA glycosylase 1 gene DOID:9970 obesity ISO RGD:1314486 D RGD:9068941 20220825 MouseDO OMIM:601665 8953327 Spag5 sperm associated antigen 5 gene DOID:0080600 COVID-19 ISO RGD:736242 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8953327 Spag5 sperm associated antigen 5 gene DOID:4362 cervical cancer severity ISO RGD:736242 D RGD:9068941 20230128 RGD mRNA, protein:increased expression:cervix (human) PMID:35853859|REF_RGD_ID:155882439 8953327 Spag5 sperm associated antigen 5 gene DOID:630 genetic disease ISO RGD:736242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953327 Spag5 sperm associated antigen 5 gene DOID:9003281 Spontaneous Abortions ISO RGD:736242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8953366 Cpn2 carboxypeptidase N subunit 2 gene DOID:630 genetic disease ISO RGD:1346122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953375 Prpf40b pre-mRNA processing factor 40 homolog B gene DOID:630 genetic disease ISO RGD:1604375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953415 Zkscan2 zinc finger with KRAB and SCAN domains 2 gene DOID:630 genetic disease ISO RGD:1605808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953426 Ift140 intraflagellar transport 140 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605413 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:29068549|PMID:29688594|PMID:30773290|PMID:34429528|PMID:34890546|PMID:9536098 8953426 Ift140 intraflagellar transport 140 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 8953426 Ift140 intraflagellar transport 140 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1553664 D RGD:9068941 20220825 MouseDO OMIM:208500 8953426 Ift140 intraflagellar transport 140 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605413 D RGD:7240710 20180130 OMIM 8953426 Ift140 intraflagellar transport 140 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly PMID:16199547|PMID:17576681|PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:24183451|PMID:24698627|PMID:25640679|PMID:25741868|PMID:26216056|PMID:26359340|PMID:26766544|PMID:26968735|PMID:27058611|PMID:27874174|PMID:28041643|PMID:28288023|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28724397|PMID:28844315|PMID:28991257|PMID:29068549|PMID:29111861|PMID:29688594|PMID:29706353|PMID:29758562|PMID:29801666|PMID:30479745|PMID:30773290|PMID:30902645|PMID:31047384|PMID:31054281|PMID:31130284|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32860008|PMID:32901917|PMID:33452237|PMID:33532864|PMID:33576794|PMID:33946315|PMID:34217267|PMID:34429528|PMID:34890546|PMID:34906470|PMID:9536098 8953426 Ift140 intraflagellar transport 140 gene DOID:10584 retinitis pigmentosa ISO RGD:1605413 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26497376|PMID:26766544|PMID:26968735|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068549|PMID:29688594|PMID:30479745|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31980526|PMID:32531858|PMID:33452237|PMID:34429528|PMID:34890546|PMID:34906470 8953426 Ift140 intraflagellar transport 140 gene DOID:10907 microcephaly ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8953426 Ift140 intraflagellar transport 140 gene DOID:12712 nephronophthisis ISO RGD:1605413 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17576681|PMID:22503633|PMID:25741868|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:28844315|PMID:29068549|PMID:29688594|PMID:29706353|PMID:30773290|PMID:9536098 8953426 Ift140 intraflagellar transport 140 gene DOID:14791 Leber congenital amaurosis ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 8953426 Ift140 intraflagellar transport 140 gene DOID:1826 epilepsy ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8953426 Ift140 intraflagellar transport 140 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8953426 Ift140 intraflagellar transport 140 gene DOID:2661 myoepithelioma ISO RGD:1605413 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8953426 Ift140 intraflagellar transport 140 gene DOID:630 genetic disease ISO RGD:1605413 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32901917|PMID:34217267 8953426 Ift140 intraflagellar transport 140 gene DOID:8501 fundus dystrophy ISO RGD:1605413 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26766544|PMID:26968735|PMID:28492532|PMID:29688594|PMID:30479745|PMID:31213501|PMID:31736247|PMID:32037395|PMID:32531858|PMID:33452237|PMID:34890546|PMID:36460718|PMID:9536098 8953426 Ift140 intraflagellar transport 140 gene DOID:9009101 Retinitis Pigmentosa 80 ISO RGD:1605413 D RGD:7240710 20190315 OMIM 8953426 Ift140 intraflagellar transport 140 gene DOID:9009101 Retinitis Pigmentosa 80 ISO RGD:1605413 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | ClinVar Annotator: match by term: Retinitis pigmentosa 80 PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:24698627|PMID:25741868|PMID:26216056|PMID:26359340|PMID:26766544|PMID:26968735|PMID:28288023|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28724397|PMID:29068549|PMID:29111861|PMID:29688594|PMID:30479745|PMID:30773290|PMID:31054281|PMID:31130284|PMID:31630094|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32860008|PMID:34429528|PMID:34890546|PMID:34906470|PMID:9536098 8953472 Nxf1 nuclear RNA export factor 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:737301 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8953472 Nxf1 nuclear RNA export factor 1 gene DOID:1059 intellectual disability ISO RGD:737301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8953472 Nxf1 nuclear RNA export factor 1 gene DOID:630 genetic disease ISO RGD:737301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953517 Cops5 COP9 signalosome subunit 5 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1321125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8953517 Cops5 COP9 signalosome subunit 5 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1321125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 8953517 Cops5 COP9 signalosome subunit 5 gene DOID:630 genetic disease ISO RGD:1321125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953517 Cops5 COP9 signalosome subunit 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1321125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20698225 8953517 Cops5 COP9 signalosome subunit 5 gene DOID:684 hepatocellular carcinoma severity ISO RGD:1321125 D RGD:9068941 20220707 RGD protein:increased expression:liver (human) PMID:26606000|REF_RGD_ID:11354707 8953517 Cops5 COP9 signalosome subunit 5 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1310301 D RGD:9068941 20220707 RGD protein:increased expression:liver (rat) PMID:26606000|REF_RGD_ID:11354707 8953539 Ankrd50 ankyrin repeat domain containing 50 gene DOID:630 genetic disease ISO RGD:1603620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953539 Ankrd50 ankyrin repeat domain containing 50 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8953547 Treml4 triggering receptor expressed on myeloid cells like 4 gene DOID:0050444 infantile Refsum disease ISO RGD:1347933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8953547 Treml4 triggering receptor expressed on myeloid cells like 4 gene DOID:630 genetic disease ISO RGD:1347933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953547 Treml4 triggering receptor expressed on myeloid cells like 4 gene DOID:905 Zellweger syndrome ISO RGD:1347933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8953564 Tmem60 transmembrane protein 60 gene DOID:0080600 COVID-19 ISO RGD:1318999 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8953564 Tmem60 transmembrane protein 60 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8953564 Tmem60 transmembrane protein 60 gene DOID:630 genetic disease ISO RGD:1318999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953564 Tmem60 transmembrane protein 60 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1318999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8953570 Kcnmb3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 gene DOID:0111546 Currarino syndrome ISO RGD:1323526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8953570 Kcnmb3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 gene DOID:630 genetic disease ISO RGD:1323526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953570 Kcnmb3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 gene DOID:6457 Cowden syndrome ISO RGD:1323526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:28492532 8953583 Cep131 centrosomal protein 131 gene DOID:630 genetic disease ISO RGD:1346806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953583 Cep131 centrosomal protein 131 gene DOID:684 hepatocellular carcinoma ISO RGD:1346806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8953627 Sptbn4 spectrin beta, non-erythrocytic 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:1312269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8953627 Sptbn4 spectrin beta, non-erythrocytic 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8953627 Sptbn4 spectrin beta, non-erythrocytic 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8953627 Sptbn4 spectrin beta, non-erythrocytic 4 gene DOID:2340 craniosynostosis ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8953627 Sptbn4 spectrin beta, non-erythrocytic 4 gene DOID:4450 renal cell carcinoma ISO RGD:1312269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8953627 Sptbn4 spectrin beta, non-erythrocytic 4 gene DOID:630 genetic disease ISO RGD:1312269 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29861105|PMID:34440880 8953627 Sptbn4 spectrin beta, non-erythrocytic 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8953627 Sptbn4 spectrin beta, non-erythrocytic 4 gene DOID:9006836 Contracture ISO RGD:1312269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8953627 Sptbn4 spectrin beta, non-erythrocytic 4 gene DOID:9007907 Congenital Myopathy with Neuropathy and Deafness ISO RGD:1312269 D RGD:7240710 20190315 OMIM 8953627 Sptbn4 spectrin beta, non-erythrocytic 4 gene DOID:9007907 Congenital Myopathy with Neuropathy and Deafness ISO RGD:1312269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness PMID:25741868|PMID:28492532|PMID:28540413|PMID:29861105|PMID:34440880 8953627 Sptbn4 spectrin beta, non-erythrocytic 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1312269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8953627 Sptbn4 spectrin beta, non-erythrocytic 4 gene DOID:9269 maple syrup urine disease ISO RGD:1312269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:0060222 Scheie syndrome ISO RGD:736905 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome PMID:10215409|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15862278|PMID:18796143|PMID:19396826|PMID:19839758|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:25741868|PMID:27896125|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7550242|PMID:7951228|PMID:8401515|PMID:8664897|PMID:9427149|PMID:9748610|PMID:9787109 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:736905 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:25741868|PMID:27210743|PMID:28492532|PMID:30586318|PMID:36719378 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:0080653 urolithiasis ISO RGD:736905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19002488|PMID:20160351 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:0111389 mucopolysaccharidosis Ih/s ISO RGD:736905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S PMID:10215409|PMID:11159948|PMID:11735025|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15862278|PMID:18796143|PMID:19396826|PMID:19839758|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:25741868|PMID:27896125|PMID:28492532|PMID:28752568|PMID:29282708|PMID:29393969|PMID:7550242|PMID:7951228|PMID:8213840|PMID:8401515|PMID:8664897|PMID:8680403|PMID:9427149|PMID:9748610|PMID:9787109 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:736905 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome PMID:10215409|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15862278|PMID:16199547|PMID:16438163|PMID:18796143|PMID:19396826|PMID:19839758|PMID:20217237|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23430803|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:24798265|PMID:25009127|PMID:25256405|PMID:25557439|PMID:25741868|PMID:27146977|PMID:27238910|PMID:27511503|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28492532|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29282708|PMID:29393969|PMID:29843745|PMID:31194252|PMID:31236806|PMID:32432561|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9748610|PMID:9787109 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:736905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20160351 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:12798 mucopolysaccharidosis ISO RGD:736905 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidoses PMID:10215409|PMID:11159948|PMID:11735025|PMID:1301941|PMID:1505961|PMID:18796143|PMID:19396826|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24314423|PMID:24368159|PMID:25741868|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7951228|PMID:8401515|PMID:9427149|PMID:9787109 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:12802 mucopolysaccharidosis I ISO RGD:736905 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:10215409|PMID:11159948|PMID:11735025|PMID:12189649|PMID:12203999|PMID:12509712|PMID:12559846|PMID:1301941|PMID:14559116|PMID:1505961|PMID:15300847|PMID:15862278|PMID:16199547|PMID:16438163|PMID:17407067|PMID:18796143|PMID:19396826|PMID:19839758|PMID:20217237|PMID:21176924|PMID:21394825|PMID:21462124|PMID:21480867|PMID:21734815|PMID:21831683|PMID:22306676|PMID:22976768|PMID:23430803|PMID:23465405|PMID:23786846|PMID:24033266|PMID:24036510|PMID:24053568|PMID:24314423|PMID:24368159|PMID:24781210|PMID:24798265|PMID:25009127|PMID:25256405|PMID:25557439|PMID:25741868|PMID:27146977|PMID:27238910|PMID:27511503|PMID:27766162|PMID:27843123|PMID:27896125|PMID:27939258|PMID:28492532|PMID:28721335|PMID:28725570|PMID:28728811|PMID:28752568|PMID:29143201|PMID:29282708|PMID:29393969|PMID:29843745|PMID:30755342|PMID:31194252|PMID:31236806|PMID:32432561|PMID:6821579|PMID:7550232|PMID:7550242|PMID:7951228|PMID:8019563|PMID:8213840|PMID:8328452|PMID:8401515|PMID:8477267|PMID:8664897|PMID:8680403|PMID:9391892|PMID:9427149|PMID:9748610|PMID:9787109 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:1856 cherubism ISO RGD:736905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:2978 carbohydrate metabolic disorder ISO RGD:736905 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism PMID:11735025|PMID:21176924|PMID:21480867|PMID:25741868|PMID:28492532|PMID:30755342|PMID:7550242 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:3082 interstitial lung disease ISO RGD:736905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:10215409|PMID:11159948|PMID:11735025|PMID:1301941|PMID:1505961|PMID:18796143|PMID:19396826|PMID:21394825|PMID:21480867|PMID:21831683|PMID:22976768|PMID:23786846|PMID:24033266|PMID:24314423|PMID:24368159|PMID:25741868|PMID:28492532|PMID:28752568|PMID:29393969|PMID:7951228|PMID:8401515|PMID:9427149|PMID:9787109 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:585 nephrolithiasis ISO RGD:736905 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Calcium oxalate urolithiasis PMID:25741868|PMID:27125215|PMID:27210743|PMID:27238910|PMID:27939258|PMID:28492532|PMID:30586318|PMID:32432561|PMID:36719378 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:630 genetic disease ISO RGD:736905 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15300847|PMID:23465405|PMID:25741868|PMID:27843123|PMID:27939258|PMID:28492532|PMID:28721335|PMID:28725570|PMID:28728811 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:9001652 Calcium Oxalate Nephrolithiasis 1 ISO RGD:736905 D RGD:7240710 20230531 OMIM 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:736905 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:9004912 Hyperoxaluria ISO RGD:736905 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hyperoxaluria PMID:25741868|PMID:28492532 8953676 Slc26a1 solute carrier family 26 member 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:736905 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 8953683 LOC102011194 cytochrome c oxidase assembly factor 4 homolog, mitochondrial gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602710 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8953683 LOC102011194 cytochrome c oxidase assembly factor 4 homolog, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1602710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8953683 LOC102011194 cytochrome c oxidase assembly factor 4 homolog, mitochondrial gene DOID:630 genetic disease ISO RGD:1602710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953706 Clec11a C-type lectin domain containing 11A gene DOID:11476 osteoporosis ISO RGD:1604062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27976999 8953706 Clec11a C-type lectin domain containing 11A gene DOID:13001 carotid stenosis ISO RGD:1604062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 8953706 Clec11a C-type lectin domain containing 11A gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1604062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19884328 8953706 Clec11a C-type lectin domain containing 11A gene DOID:1790 malignant mesothelioma ISO RGD:1604062 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8953706 Clec11a C-type lectin domain containing 11A gene DOID:2355 anemia ISO RGD:1604062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19884328 8953706 Clec11a C-type lectin domain containing 11A gene DOID:630 genetic disease ISO RGD:1604062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953714 Lcp2 lymphocyte cytosolic protein 2 gene DOID:630 genetic disease ISO RGD:732713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953714 Lcp2 lymphocyte cytosolic protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8953714 Lcp2 lymphocyte cytosolic protein 2 gene DOID:9008093 Immunodeficiency 81 ISO RGD:732713 D RGD:7240710 20210707 OMIM 8953714 Lcp2 lymphocyte cytosolic protein 2 gene DOID:9008093 Immunodeficiency 81 ISO RGD:732713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 81 PMID:25741868|PMID:33231617 8953752 Glb1 galactosidase beta 1 gene DOID:0050952 spastic ataxia ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10841810|PMID:15714521|PMID:18524657|PMID:21497194|PMID:25741868|PMID:28492532|PMID:8922281 8953752 Glb1 galactosidase beta 1 gene DOID:0080006 bone development disease ISO RGD:1347574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7586649 8953752 Glb1 galactosidase beta 1 gene DOID:0080489 GM1 gangliosidosis type 3 ISO RGD:1347574 D RGD:7240710 20190227 OMIM 8953752 Glb1 galactosidase beta 1 gene DOID:0080489 GM1 gangliosidosis type 3 ISO RGD:1347574 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 3 | ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:12393180|PMID:12644936|PMID:1353343|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15986423|PMID:16385454|PMID:16617000|PMID:16626397|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:19472408|PMID:19644515|PMID:20175788|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:23151865|PMID:23337983|PMID:23430499|PMID:24156116|PMID:25326637|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26646981|PMID:28492532|PMID:28554332|PMID:28716012|PMID:29160035|PMID:29352662|PMID:29439846|PMID:30267299|PMID:31761138|PMID:31776384|PMID:6791574|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 8953752 Glb1 galactosidase beta 1 gene DOID:0080501 GM1 gangliosidosis type 2 ISO RGD:1347574 D RGD:7240710 20190306 OMIM 8953752 Glb1 galactosidase beta 1 gene DOID:0080501 GM1 gangliosidosis type 2 ISO RGD:1347574 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 2 PMID:10338095|PMID:10737981|PMID:10744681|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:12393180|PMID:12644936|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:1606711|PMID:16199547|PMID:16314480|PMID:16385454|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17661814|PMID:17664528|PMID:18524657|PMID:18571950|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20920281|PMID:21214877|PMID:2149194|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22675082|PMID:23046582|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:23757202|PMID:23831247|PMID:24033266|PMID:24156116|PMID:24767253|PMID:24777551|PMID:25326635|PMID:25326637|PMID:25443580|PMID:25525159|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26169295|PMID:26646981|PMID:26990548|PMID:27619815|PMID:27679996|PMID:27750150|PMID:28332257|PMID:28476546|PMID:28492532|PMID:28554332|PMID:28577204|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29352662|PMID:29439846|PMID:29451896|PMID:30138938|PMID:30267299|PMID:30408610|PMID:30442161|PMID:30548430|PMID:30675867|PMID:30809705|PMID:31367523|PMID:31761138|PMID:31776384|PMID:32779865|PMID:33083013|PMID:33240792|PMID:33558080|PMID:33737400|PMID:34426522|PMID:35614200|PMID:35937492|PMID:36265282|PMID:6791574|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 8953752 Glb1 galactosidase beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1347574 D RGD:7240710 20190306 OMIM 8953752 Glb1 galactosidase beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1347574 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:12644936|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:1606711|PMID:16199547|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20920281|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22234367|PMID:22371915|PMID:22675082|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:24033266|PMID:24156116|PMID:24767253|PMID:25326635|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26169295|PMID:26646981|PMID:27619815|PMID:28332257|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29439846|PMID:30138938|PMID:30267299|PMID:30408610|PMID:30548430|PMID:30809705|PMID:31761138|PMID:31776384|PMID:32219518|PMID:33737400|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 8953752 Glb1 galactosidase beta 1 gene DOID:0080502 GM1 gangliosidosis type 1 ISO RGD:1347574 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:12644936|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:1606711|PMID:16199547|PMID:16314480|PMID:16385454|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17664528|PMID:18524657|PMID:18571950|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:20175788|PMID:20920281|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22234367|PMID:22371915|PMID:22675082|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:24033266|PMID:24156116|PMID:24767253|PMID:25326635|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26169295|PMID:26646981|PMID:27619815|PMID:27679996|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29352662|PMID:29439846|PMID:30138938|PMID:30267299|PMID:30408610|PMID:30548430|PMID:30809705|PMID:31761138|PMID:31776384|PMID:32219518|PMID:33737400|PMID:36265282|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 8953752 Glb1 galactosidase beta 1 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:1347574 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DBP deficiency PMID:10338095|PMID:15986423|PMID:16385454|PMID:16941474|PMID:17309651|PMID:18524657|PMID:21637542|PMID:24156116|PMID:25741868|PMID:25936995|PMID:28492532|PMID:31761138 8953752 Glb1 galactosidase beta 1 gene DOID:0110337 osteogenesis imperfecta type 7 ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:28492532 8953752 Glb1 galactosidase beta 1 gene DOID:0111392 mucopolysaccharidosis type IVB ISO RGD:1347574 D RGD:7240710 20191030 OMIM 8953752 Glb1 galactosidase beta 1 gene DOID:0111392 mucopolysaccharidosis type IVB ISO RGD:1347574 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:10338095|PMID:10737981|PMID:10744681|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:12393180|PMID:12644936|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15791924|PMID:15906092|PMID:15943552|PMID:15986423|PMID:16199547|PMID:16314480|PMID:16385454|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17576681|PMID:17661814|PMID:17664528|PMID:18353697|PMID:18524657|PMID:18546276|PMID:18571950|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:19644515|PMID:19763152|PMID:20175788|PMID:20307669|PMID:20409738|PMID:20920281|PMID:21214877|PMID:2149194|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22234367|PMID:22371915|PMID:22406018|PMID:22675082|PMID:23046582|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:23757202|PMID:23831247|PMID:24033266|PMID:24156116|PMID:24777551|PMID:25326635|PMID:25326637|PMID:25443580|PMID:25525159|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26169295|PMID:26646981|PMID:26990548|PMID:27619815|PMID:27679996|PMID:28332257|PMID:28476546|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29160035|PMID:29352662|PMID:29396849|PMID:29439846|PMID:29451896|PMID:30138938|PMID:30187681|PMID:30267299|PMID:30408610|PMID:30442161|PMID:30548430|PMID:30555092|PMID:30675867|PMID:30703229|PMID:30809705|PMID:31367523|PMID:31497487|PMID:31761138|PMID:31776384|PMID:31905715|PMID:32005694|PMID:32219518|PMID:32779865|PMID:33083013|PMID:33240792|PMID:33558080|PMID:33673364|PMID:33737400|PMID:34258138|PMID:34426522|PMID:35937492|PMID:36265282|PMID:6791574|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8198123|PMID:8199591|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9536098|PMID:9781688 8953752 Glb1 galactosidase beta 1 gene DOID:0112280 spondyloepiphyseal dysplasia ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia PMID:10841810|PMID:19472408|PMID:21497194|PMID:23831247|PMID:25741868|PMID:26646981|PMID:28492532|PMID:8922281 8953752 Glb1 galactosidase beta 1 gene DOID:1059 intellectual disability ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8953752 Glb1 galactosidase beta 1 gene DOID:12804 mucopolysaccharidosis IV ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morquio syndrome 8953752 Glb1 galactosidase beta 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1347574 D RGD:9068941 20230511 CTD CTD Direct Evidence: marker/mechanism PMID:817853 8953752 Glb1 galactosidase beta 1 gene DOID:2773 contact dermatitis ISO RGD:1347574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8953752 Glb1 galactosidase beta 1 gene DOID:3070 high grade glioma ISO RGD:1347574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8953752 Glb1 galactosidase beta 1 gene DOID:3310 atopic dermatitis ISO RGD:1347574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 8953752 Glb1 galactosidase beta 1 gene DOID:3322 GM1 gangliosidosis ISO RGD:1347574 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Beta galactosidase 1 deficiency | ClinVar Annotator: match by term: GM1 gangliosidosis PMID:10338095|PMID:10737981|PMID:10839995|PMID:10841810|PMID:11504597|PMID:11511921|PMID:12393180|PMID:12644936|PMID:1353343|PMID:1487238|PMID:15365997|PMID:15714521|PMID:15906092|PMID:15943552|PMID:15986423|PMID:16314480|PMID:16385454|PMID:16538002|PMID:16617000|PMID:16626397|PMID:16674934|PMID:16941474|PMID:17221873|PMID:17309651|PMID:17664528|PMID:18524657|PMID:1907800|PMID:1909089|PMID:1928092|PMID:19472408|PMID:20175788|PMID:20409738|PMID:20920281|PMID:21214877|PMID:2149194|PMID:21497194|PMID:21520340|PMID:21637542|PMID:22128166|PMID:22675082|PMID:23151865|PMID:23337983|PMID:23430499|PMID:23430803|PMID:24033266|PMID:24156116|PMID:24777551|PMID:25326635|PMID:25443580|PMID:25557439|PMID:25600812|PMID:25741868|PMID:25936995|PMID:26108645|PMID:26169295|PMID:26646981|PMID:26990548|PMID:28332257|PMID:28476546|PMID:28492532|PMID:28554332|PMID:28716012|PMID:28976722|PMID:29352662|PMID:29396849|PMID:29439846|PMID:30267299|PMID:30408610|PMID:30548430|PMID:30555092|PMID:30809705|PMID:31367523|PMID:31761138|PMID:31776384|PMID:33083013|PMID:33240792|PMID:33737400|PMID:34426522|PMID:35614200|PMID:7586649|PMID:8068159|PMID:8112731|PMID:8213816|PMID:8500799|PMID:8652017|PMID:8922281|PMID:9203065|PMID:9781688 8953752 Glb1 galactosidase beta 1 gene DOID:3322 GM1 gangliosidosis treatment ISO RGD:10651 D RGD:9068941 20200609 RGD PMID:25964428|REF_RGD_ID:11086251 8953752 Glb1 galactosidase beta 1 gene DOID:5419 schizophrenia ISO RGD:1347574 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8953752 Glb1 galactosidase beta 1 gene DOID:630 genetic disease ISO RGD:1347574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10338095|PMID:11511921|PMID:15714521|PMID:15986423|PMID:17309651|PMID:17661814|PMID:19472408|PMID:20175788|PMID:21497194|PMID:21520340|PMID:22128166|PMID:23337983|PMID:25326637|PMID:25557439|PMID:25741868|PMID:28476546|PMID:28492532|PMID:28554332|PMID:29352662|PMID:30267299|PMID:30442161|PMID:31367523|PMID:31761138|PMID:33240792|PMID:33737400|PMID:6791574|PMID:8198123|PMID:8213816|PMID:8652017 8953752 Glb1 galactosidase beta 1 gene DOID:9008301 Pseudo-Zellweger Syndrome ISO RGD:1347574 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pseudo Zellweger syndrome PMID:10338095|PMID:15986423|PMID:16385454|PMID:16941474|PMID:17309651|PMID:18524657|PMID:21637542|PMID:24156116|PMID:25741868|PMID:25936995|PMID:28492532|PMID:31761138 8953752 Glb1 galactosidase beta 1 gene DOID:9008606 Corneal Opacity ISO RGD:1347574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:817853 8953752 Glb1 galactosidase beta 1 gene DOID:9008821 Otitis Media with Effusion IEP D RGD:11557999|PMID:2837976 20161104 RGD 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1343412 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:18252223|PMID:19377476|PMID:25741868|PMID:28492532|PMID:29118367 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1343412 D RGD:7240710 20190515 OMIM 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1343412 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: HUWE1-related condition | ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type PMID:16700052|PMID:17576681|PMID:18252223|PMID:19377476|PMID:25326635|PMID:25326637|PMID:25590979|PMID:25741868|PMID:25741869|PMID:25985138|PMID:27130160|PMID:27884935|PMID:28492532|PMID:29118367|PMID:29180823|PMID:30797980|PMID:35887114|PMID:6107045|PMID:7943042|PMID:7943044|PMID:9536098 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:1343412 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Carpenter-Waziri syndrome PMID:25741868 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0112026 non-syndromic X-linked intellectual disability 99 ISO RGD:1343412 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 PMID:25741868 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0112037 chromosome Xp11.22 duplication syndrome ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HUWE1-Related Disorder 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:10348 blepharophimosis ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:25741868 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:1059 intellectual disability ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29180823 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:12849 autistic disorder ISO RGD:1343412 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:21681106|PMID:25741868|PMID:30208311 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1343412 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16700052|PMID:18414213|PMID:25644381|PMID:25741868|PMID:25741869|PMID:25985138|PMID:28492532|PMID:29180823|PMID:7708685|PMID:9153201 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9004603 Atkin Syndrome ISO RGD:1343412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1343412 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED PMID:25741868 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9006231 Say Meyer Syndrome ISO RGD:1343412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trigonocephaly, short stature, and retarded psychomotor development PMID:25741868|PMID:30797980 8953769 Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1343412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741905|PMID:28492532 8953878 Pgam5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase gene DOID:630 genetic disease ISO RGD:1604217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953878 Pgam5 PGAM family member 5, mitochondrial serine/threonine protein phosphatase gene DOID:9256 colorectal cancer ISO RGD:1604217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 8953892 Myadm myeloid associated differentiation marker gene DOID:0090063 familial cold autoinflammatory syndrome 2 ISO RGD:1353717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 PMID:28492532 8953892 Myadm myeloid associated differentiation marker gene DOID:630 genetic disease ISO RGD:1353717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953892 Myadm myeloid associated differentiation marker gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8953899 Rab14 RAB14, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:737104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953922 Slc15a3 solute carrier family 15 member 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1348958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8953922 Slc15a3 solute carrier family 15 member 3 gene DOID:1059 intellectual disability ISO RGD:1348958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8953922 Slc15a3 solute carrier family 15 member 3 gene DOID:630 genetic disease ISO RGD:1348958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953922 Slc15a3 solute carrier family 15 member 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8953933 Mbtd1 mbt domain containing 1 gene DOID:630 genetic disease ISO RGD:1348935 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953987 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8953987 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:6767479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8953987 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:0110994 Joubert syndrome 25 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8953987 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:0111934 immunodeficiency 38 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8953987 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:0111935 immunodeficiency 16 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8953987 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:630 genetic disease ISO RGD:6767479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8953987 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6767479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8953987 Smim1 small integral membrane protein 1 (Vel blood group) gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:6767479 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8954018 Mrc1 mannose receptor C-type 1 gene DOID:0080600 COVID-19 ISO RGD:1319655 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8954018 Mrc1 mannose receptor C-type 1 gene DOID:1024 leprosy ISO RGD:1319655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy PMID:20035344 8954018 Mrc1 mannose receptor C-type 1 gene DOID:2018 hyperinsulinism ISO RGD:1319655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8954018 Mrc1 mannose receptor C-type 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1319655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8954018 Mrc1 mannose receptor C-type 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1309353 D RGD:9068941 20210122 RGD PMID:24968269|REF_RGD_ID:40924652 8954018 Mrc1 mannose receptor C-type 1 gene DOID:9007692 Insulin Resistance ISO RGD:1319655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8954018 Mrc1 mannose receptor C-type 1 gene DOID:9970 obesity ISO RGD:1319655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8954057 Csmd3 CUB and Sushi multiple domains 3 gene DOID:12849 autistic disorder ISO RGD:1316806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270536 8954057 Csmd3 CUB and Sushi multiple domains 3 gene DOID:303 substance-related disorder ISO RGD:1316806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8954057 Csmd3 CUB and Sushi multiple domains 3 gene DOID:4450 renal cell carcinoma ISO RGD:1316806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691|PMID:23797736 8954057 Csmd3 CUB and Sushi multiple domains 3 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8954057 Csmd3 CUB and Sushi multiple domains 3 gene DOID:630 genetic disease ISO RGD:1316806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954133 Ankrd31 ankyrin repeat domain 31 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1354086 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 8954133 Ankrd31 ankyrin repeat domain 31 gene DOID:2843 long QT syndrome ISO RGD:1354086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8954133 Ankrd31 ankyrin repeat domain 31 gene DOID:3323 Sandhoff disease ISO RGD:1354086 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 8954133 Ankrd31 ankyrin repeat domain 31 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:25741868 8954133 Ankrd31 ankyrin repeat domain 31 gene DOID:630 genetic disease ISO RGD:1354086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8954133 Ankrd31 ankyrin repeat domain 31 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8954174 Tob1 transducer of ERBB2, 1 gene DOID:289 endometriosis ISO RGD:1352967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8954174 Tob1 transducer of ERBB2, 1 gene DOID:630 genetic disease ISO RGD:1352967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954174 Tob1 transducer of ERBB2, 1 gene DOID:9001341 Chloracne ISO RGD:1352967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8954174 Tob1 transducer of ERBB2, 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1352967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12756225 8954182 Ube2c ubiquitin conjugating enzyme E2 C gene DOID:0080600 COVID-19 ISO RGD:1313378 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8954182 Ube2c ubiquitin conjugating enzyme E2 C gene DOID:2234 focal epilepsy ISO RGD:1313378 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8954182 Ube2c ubiquitin conjugating enzyme E2 C gene DOID:630 genetic disease ISO RGD:1313378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954182 Ube2c ubiquitin conjugating enzyme E2 C gene DOID:684 hepatocellular carcinoma ISO RGD:1313378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8954182 Ube2c ubiquitin conjugating enzyme E2 C gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8954182 Ube2c ubiquitin conjugating enzyme E2 C gene DOID:9004814 Chromosome Aberrations ISO RGD:1313378 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27129209 8954182 Ube2c ubiquitin conjugating enzyme E2 C gene DOID:9008939 Breast Neoplasms ISO RGD:1313378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 8954199 LOC102030116 chromosome unknown open reading frame, human C16orf46 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1345260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 8954199 LOC102030116 chromosome unknown open reading frame, human C16orf46 gene DOID:630 genetic disease ISO RGD:1345260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0050952 spastic ataxia ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:12382155|PMID:16759889|PMID:19302939|PMID:21990111|PMID:23374165|PMID:25741868|PMID:28492532|PMID:28878621 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0080600 COVID-19 ISO RGD:736552 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:736552 D RGD:7240710 20180130 OMIM 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:736552 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 | ClinVar Annotator: match by term: PPT1-related condition PMID:10191107|PMID:10191109|PMID:10477428|PMID:10649502|PMID:10679943|PMID:10781062|PMID:11001811|PMID:11073228|PMID:11332767|PMID:11440996|PMID:11506414|PMID:11520175|PMID:11589012|PMID:11727201|PMID:12125808|PMID:12382155|PMID:12796825|PMID:12855696|PMID:14997939|PMID:15464427|PMID:15965709|PMID:16199547|PMID:16644870|PMID:16759889|PMID:17044973|PMID:17261688|PMID:17565660|PMID:17576681|PMID:18414213|PMID:18704195|PMID:19302939|PMID:19440452|PMID:19793312|PMID:19793631|PMID:19941651|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21704547|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:23772246|PMID:23857568|PMID:24033266|PMID:24082928|PMID:24997880|PMID:25205113|PMID:2538469|PMID:25525159|PMID:25574475|PMID:25640679|PMID:25741868|PMID:26075876|PMID:26275418|PMID:26467025|PMID:26510000|PMID:26707855|PMID:26795593|PMID:28492532|PMID:28559085|PMID:28878621|PMID:29631617|PMID:29655203|PMID:30378543|PMID:30541466|PMID:30842224|PMID:30952489|PMID:31440721|PMID:31741823|PMID:33528079|PMID:33547378|PMID:33561134|PMID:34114234|PMID:34906470|PMID:35217970|PMID:35693655|PMID:7637805|PMID:9425237|PMID:9536098|PMID:9571187|PMID:9664077|PMID:9733046|PMID:9793631 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:0110731 neuronal ceroid lipofuscinosis 3 ISO RGD:736553 D RGD:9068941 20220825 MouseDO OMIM:204200 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:736552 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10191107|PMID:10477428|PMID:10649502|PMID:11073228|PMID:11440996|PMID:11520175|PMID:12796825|PMID:15464427|PMID:19302939|PMID:21499717|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:25741868|PMID:26510000|PMID:28492532|PMID:28559085|PMID:28878621|PMID:30541466|PMID:34906470|PMID:9425237|PMID:9664077|PMID:9733046 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:1059 intellectual disability ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:28492532 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:1059 intellectual disability ISO RGD:736552 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30541466|PMID:33528079|PMID:35693655 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736552 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10191107|PMID:10477428|PMID:10649502|PMID:10679943|PMID:10781062|PMID:11001811|PMID:11073228|PMID:11332767|PMID:11440996|PMID:11506414|PMID:11589012|PMID:12382155|PMID:14997939|PMID:15965709|PMID:16199547|PMID:16644870|PMID:16759889|PMID:17044973|PMID:17261688|PMID:17565660|PMID:18704195|PMID:19302939|PMID:19440452|PMID:19793312|PMID:19793631|PMID:19941651|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:23772246|PMID:23857568|PMID:24082928|PMID:24997880|PMID:25205113|PMID:2538469|PMID:25525159|PMID:25574475|PMID:25741868|PMID:26467025|PMID:26707855|PMID:26795593|PMID:28492532|PMID:28878621|PMID:29631617|PMID:30842224|PMID:30952489|PMID:31741823|PMID:33561134|PMID:35217970|PMID:7637805|PMID:9425237|PMID:9571187|PMID:9664077|PMID:9733046|PMID:9793631 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:736552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30442709 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:1826 epilepsy ISO RGD:736552 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:3529 congenital myopathy 1A ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:18414213|PMID:21990111|PMID:24033266|PMID:25741868|PMID:28492532 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:630 genetic disease ISO RGD:736552 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10191107|PMID:10191109|PMID:10477428|PMID:10649502|PMID:10679943|PMID:10781062|PMID:11001811|PMID:11073228|PMID:11332767|PMID:11440996|PMID:11506414|PMID:11520175|PMID:12796825|PMID:12855696|PMID:15464427|PMID:15965709|PMID:17044973|PMID:17261688|PMID:17565660|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19302939|PMID:19793312|PMID:19941651|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21704547|PMID:21990111|PMID:22387303|PMID:23374165|PMID:23539563|PMID:23772246|PMID:24033266|PMID:24082928|PMID:24997880|PMID:25205113|PMID:2538469|PMID:25525159|PMID:25574475|PMID:25741868|PMID:26467025|PMID:26510000|PMID:26795593|PMID:28492532|PMID:28559085|PMID:28878621|PMID:29631617|PMID:30378543|PMID:30541466|PMID:33528079|PMID:33561134|PMID:34906470|PMID:35693655|PMID:7637805|PMID:9425237|PMID:9536098|PMID:9664077|PMID:9733046|PMID:9793631 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:736552 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:10649502|PMID:10679943|PMID:11440996|PMID:11506414|PMID:17261688|PMID:19793312|PMID:20301601|PMID:21228398|PMID:21990111|PMID:23539563|PMID:23772246|PMID:24082928|PMID:25205113|PMID:25525159|PMID:25574475|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9425237|PMID:9664077|PMID:9733046 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:9000343 Vision Disorders ISO RGD:736552 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:24804307 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:736552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21990111|PMID:25741868 8954233 Ppt1 palmitoyl-protein thioesterase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10477428|PMID:11440996|PMID:19302939|PMID:21499717|PMID:21990111|PMID:22387303|PMID:23374165|PMID:25741868|PMID:28492532|PMID:28878621|PMID:31741823|PMID:9664077 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0001816 angiosarcoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0001816 angiosarcoma ISO RGD:731438 D RGD:9068941 20220310 RGD associated with neoplasms, radiation-induced; DNA:amplification: (human) PMID:26440310|REF_RGD_ID:151665099 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27356265 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0050855 renal fibrosis ISO RGD:10940 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; protein:increased expression:kidney (mouse) PMID:19297557|REF_RGD_ID:7207450 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:731438 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:19270706|PMID:31694585 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0050908 myelodysplastic syndrome ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10914558 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:25157968|PMID:26619011 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:promyelocyte: PMID:21059853|REF_RGD_ID:11532756 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0060318 acute promyelocytic leukemia onset ISO RGD:731438 D RGD:9068941 20200609 RGD PMID:21059853|REF_RGD_ID:11532756 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0080322 polycystic kidney disease ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:9422539|REF_RGD_ID:7207451 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0080322 polycystic kidney disease ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:21119215|REF_RGD_ID:7207426 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0080600 COVID-19 ISO RGD:731438 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:22120021|REF_RGD_ID:7207416 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0110858 polycystic kidney disease 1 ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:16449663|REF_RGD_ID:7207779 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0110858 polycystic kidney disease 1 ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (human) PMID:19346236|REF_RGD_ID:7207447 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:3479800|REF_RGD_ID:7207453 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:10283 prostate cancer severity ISO RGD:731438 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (human) PMID:20140016|REF_RGD_ID:7240541 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:10283 prostate cancer susceptibility ISO RGD:731438 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS1-355T>A rs3891248 (human) PMID:18483343|REF_RGD_ID:7207432 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1040 chronic lymphocytic leukemia disease_progression ISO RGD:731438 D RGD:9068941 20200609 RGD PMID:20956327|REF_RGD_ID:11340590 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:10964 cholesteatoma of middle ear ISO RGD:731438 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cholesteatoma of middle ear PMID:27993330|PMID:8220424 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:22028816|REF_RGD_ID:7207418 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2228319 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731438 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder urothelium (human) PMID:20939013|REF_RGD_ID:7207427 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:731438 D RGD:9068941 20200609 RGD DNA:snp, haplotype:enhancer:g.-30772G>T rs9642880 (human) PMID:23284801|REF_RGD_ID:7207401 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1107 esophageal carcinoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:25157968|PMID:26619011 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11132 prostatic hypertrophy treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22684563|REF_RGD_ID:7240520 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11476 osteoporosis ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22704852|REF_RGD_ID:7240519 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22000973 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:127 leiomyoma treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22302692|REF_RGD_ID:6483544 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1324 lung cancer treatment ISO RGD:731438 D RGD:9068941 20211210 RGD human cells in mouse model PMID:32051824|REF_RGD_ID:150530284 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:13543 hyperparathyroidism ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:parathyroid gland (human) PMID:17047023|REF_RGD_ID:7207778 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:14566 disease of cellular proliferation ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:26619011|PMID:8220424 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1612 breast cancer ISO RGD:3130 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland (rat) PMID:22614519|REF_RGD_ID:7241002 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1612 breast cancer severity ISO RGD:731438 D RGD:9068941 20200609 RGD DNA:amplification:exon (human) PMID:10706127|REF_RGD_ID:7207838 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:171 neuroectodermal tumor ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8761367 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1749 squamous cell carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1781 thyroid cancer ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid (mouse) PMID:25246276|REF_RGD_ID:13825129 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1793 pancreatic cancer ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:22024988|REF_RGD_ID:7240699 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1793 pancreatic cancer ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25961927 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1883 hepatitis C ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:23108410|REF_RGD_ID:14695017 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:1936 atherosclerosis treatment ISO RGD:10940 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:2154 nephroblastoma ISO RGD:10940 D RGD:9068941 20200609 RGD protein:increased expression:kidney (mouse) PMID:21983638|REF_RGD_ID:7207786 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:2154 nephroblastoma severity ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor (human) PMID:18260125|REF_RGD_ID:7207840 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:2526 prostate adenocarcinoma ISO RGD:731438 D RGD:9068941 20200609 RGD human gene in mouse model PMID:14522256|PMID:20195545|REF_RGD_ID:7207413|REF_RGD_ID:7207781 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:299 adenocarcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3021 acute kidney failure susceptibility ISO RGD:10940 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:kidney (mouse) PMID:23228991|REF_RGD_ID:7207407 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:305 carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2228319 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3068 glioblastoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3213 demyelinating disease treatment ISO RGD:731438 D RGD:9068941 20200609 RGD human gene in rat model; DNA:missense mutation:cds:p.T58A (human) PMID:22076651|REF_RGD_ID:7240694 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3347 osteosarcoma ISO RGD:731438 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:24646477|PMID:34508303 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3672 rhabdoid cancer ISO RGD:731438 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:20212451|REF_RGD_ID:7207430 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24688052 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3910 lung adenocarcinoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:25157968|PMID:26619011 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3965 Merkel cell carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25277525 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:4247 coronary restenosis treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:7955204|REF_RGD_ID:10059621 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:4450 renal cell carcinoma ISO RGD:3130 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:18055543|REF_RGD_ID:7207841 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:4450 renal cell carcinoma ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (human) PMID:21982273|REF_RGD_ID:7207793 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:731438 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:21881486|REF_RGD_ID:7207420 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:5082 liver cirrhosis ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:23770341|REF_RGD_ID:14695015 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:5082 liver cirrhosis ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver PMID:23770341|REF_RGD_ID:14695015 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:5394 prolactinoma ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary gland (rat) PMID:22635680|REF_RGD_ID:7240531 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:28089889|REF_RGD_ID:13793389 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:5426 primary ovarian insufficiency ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:630 genetic disease ISO RGD:731438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:6432 pulmonary hypertension treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22306243|REF_RGD_ID:7240564 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:674 cleft palate ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859337 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:21644509|REF_RGD_ID:6903288 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22076107|REF_RGD_ID:7240695 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:15565109|PMID:29698666|PMID:9029167 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma severity ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:22434528|REF_RGD_ID:7241004 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22129741|REF_RGD_ID:7240567 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:769 neuroblastoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25157968|PMID:26619011 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:8567 Hodgkin's lymphoma ISO RGD:731438 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:32934698 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:8584 Burkitt lymphoma ISO RGD:731438 D RGD:7240710 20180130 OMIM 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:8584 Burkitt lymphoma ISO RGD:731438 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Burkitt lymphoma PMID:25157968|PMID:27993330|PMID:8220424 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:8634 prostate carcinoma in situ ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:10861747|REF_RGD_ID:10059615 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:8923 skin melanoma ISO RGD:731438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:25157968|PMID:26619011 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:18356167|REF_RGD_ID:7207457 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25877301 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9000117 Esophageal Neoplasms treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22844359|REF_RGD_ID:7207890 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9000217 Stomach Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17171786|PMID:21173787 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9000918 Disease Progression ISO RGD:731438 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:22321834|PMID:28191284|PMID:34510316|PMID:34626302 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22321834 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9001285 Alcoholic Liver Diseases disease_progression ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:26576483|REF_RGD_ID:14695016 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:26576483|REF_RGD_ID:14695016 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:3335218|REF_RGD_ID:10059623 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11280770|PMID:18560566|PMID:9079223 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22113495|REF_RGD_ID:7240568 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:731438 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:23704919|PMID:29295717|PMID:32512071 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9002762 Ovarian Neoplasms ISO RGD:731438 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632|PMID:34510316 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9002928 Colonic Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189186|PMID:15059925|PMID:18283038|PMID:21081470 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22641368|REF_RGD_ID:7240527 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9003936 Cardiomegaly treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22000973|REF_RGD_ID:7240700 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9004203 Chromosome Breakage ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25933419 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9004283 Transplant Rejection ISO RGD:3130 D RGD:9068941 20200609 RGD cornea PMID:22149555|REF_RGD_ID:7240566 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472269 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9005100 Aberrant Crypt Foci treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:8449605|REF_RGD_ID:13432056 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9005172 Lung Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289808|PMID:28191284 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:10940 D RGD:9068941 20200609 RGD PMID:22384017|REF_RGD_ID:7240549 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:18030501|REF_RGD_ID:7207459 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9006182 Carotid Artery Injuries ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery (rat) PMID:22546228|REF_RGD_ID:7240535 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:23178522|PMID:8113414|REF_RGD_ID:10059612|REF_RGD_ID:7207861 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9006205 Animal Disease Models ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:17220792|REF_RGD_ID:7207777 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22503847|REF_RGD_ID:7240537 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9007188 Liver Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11532874|PMID:8807143 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12115494|PMID:2543982|PMID:29626521|PMID:31504995 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9007715 Endometrial Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26656844 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:731438 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (human) PMID:19384955|REF_RGD_ID:7240562 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma severity ISO RGD:731438 D RGD:9068941 20200609 RGD protein:increased expression:kidney (human) PMID:17409424|REF_RGD_ID:7240563 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008138 Ductal Carcinoma ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29295717 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008691 Liver Injury ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:21986297|REF_RGD_ID:7240702 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008939 Breast Neoplasms ISO RGD:10940 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland (mouse) PMID:20820192|REF_RGD_ID:7207428 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9008939 Breast Neoplasms treatment ISO RGD:3130 D RGD:9068941 20200609 RGD PMID:22439659|REF_RGD_ID:7241009 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9119 acute myeloid leukemia ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25956709 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9296 cleft lip ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859337 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9452 steatotic liver disease ISO RGD:731438 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24210820 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731438 D RGD:9068941 20200609 RGD PMID:25784651|REF_RGD_ID:11532748 8954249 Myc MYC proto-oncogene, bHLH transcription factor gene DOID:9970 obesity ISO RGD:3130 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas (rat) PMID:22421529|REF_RGD_ID:7240547 8954288 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0060237 Warburg micro syndrome ISO RGD:1604828 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:35196747 8954288 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1604828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 8954288 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0110716 Warburg micro syndrome 1 ISO RGD:1604828 D RGD:7240710 20180228 OMIM 8954288 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:0110716 Warburg micro syndrome 1 ISO RGD:1604828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 1 PMID:15216543|PMID:15696165|PMID:16199547|PMID:17351351|PMID:17576681|PMID:18286824|PMID:18414213|PMID:20512159|PMID:20584031|PMID:23176487|PMID:23420520|PMID:25326635|PMID:25741868|PMID:26138576|PMID:26421802|PMID:26467025|PMID:26852512|PMID:28454995|PMID:28492532|PMID:29300443|PMID:29878067|PMID:30202406|PMID:31319225|PMID:32740904|PMID:32870266|PMID:8249951|PMID:9536098 8954288 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:11383 cryptorchidism ISO RGD:1604828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism 8954288 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:13938 amenorrhea ISO RGD:1604828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:26467025|PMID:28492532|PMID:32870266 8954288 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:1604828 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15696165|PMID:16199547|PMID:17351351|PMID:20512159|PMID:23176487|PMID:23420520|PMID:25741868|PMID:26467025|PMID:26852512|PMID:28492532|PMID:29300443|PMID:31319225|PMID:34702808 8954288 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:9000980 Martsolf Syndrome 2 ISO RGD:1604828 D RGD:7240710 20210728 OMIM 8954288 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:9000980 Martsolf Syndrome 2 ISO RGD:1604828 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 2 PMID:23420520|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29300443|PMID:30730599 8954288 Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:29300443 8954322 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:0080600 COVID-19 ISO RGD:1323304 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8954322 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:1520 colon carcinoma ISO RGD:1323304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:9521327 8954322 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1323304 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8954322 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1323304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8954322 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9001690 Primary Autosomal Recessive Microcephaly 30 ISO RGD:1323304 D RGD:7240710 20230104 OMIM 8954322 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9001690 Primary Autosomal Recessive Microcephaly 30 ISO RGD:1323304 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive PMID:35044816 8954322 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323304 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8954322 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1323304 D RGD:7240710 20200226 OMIM 8954322 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9256 colorectal cancer ISO RGD:1323304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer with chromosomal instability, somatic PMID:9521327 8954322 Bub1 BUB1 mitotic checkpoint serine/threonine kinase gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323304 D RGD:9068941 20200609 RGD DNA:splice-site mutation, missense mutation PMID:9521327|REF_RGD_ID:1600539 8954356 Rabgef1 RAB guanine nucleotide exchange factor 1 gene DOID:14755 argininosuccinic aciduria ISO RGD:1316404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 8954356 Rabgef1 RAB guanine nucleotide exchange factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8954356 Rabgef1 RAB guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1316404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954371 Znf483 zinc finger protein 483 gene DOID:630 genetic disease ISO RGD:1604223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954386 Rsad1 radical S-adenosyl methionine domain containing 1 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1347932 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8954386 Rsad1 radical S-adenosyl methionine domain containing 1 gene DOID:630 genetic disease ISO RGD:1347932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0050157 cryptogenic organizing pneumonia ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:lung, macrophage (human) PMID:21144722|REF_RGD_ID:5131112 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0050834 CHARGE syndrome ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CHARGE association 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0050848 obstructive sleep apnea ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19148690|REF_RGD_ID:5131433 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0050855 renal fibrosis ISO RGD:734247 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:10564241|REF_RGD_ID:7245536 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0050860 colorectal adenoma ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum, colorectal mucosa, epithelial cell PMID:23082052|REF_RGD_ID:13217413 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:737288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:25741868 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080160 cytomegalovirus retinitis ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:17389501|REF_RGD_ID:7394808 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080162 lupus nephritis ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:10906156|REF_RGD_ID:7245572 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080162 lupus nephritis severity ISO RGD:731571 D RGD:9068941 20200609 RGD PMID:19201910|REF_RGD_ID:7245569 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080526 bronchiectasis 1 ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:25741868 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080600 COVID-19 ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:22801493|PMID:24033266|PMID:25741868|PMID:28492532 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0080745 polymyositis severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11055823|REF_RGD_ID:8661747 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0090018 autosomal dominant familial periodic fever ISO RGD:737288 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal Dominant Familial Periodic Fever | ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) PMID:10199409|PMID:10902757|PMID:11175303|PMID:11239851|PMID:1144354|PMID:11443543|PMID:11700162|PMID:11722598|PMID:11817598|PMID:12209523|PMID:12352631|PMID:12520003|PMID:12905494|PMID:13130484|PMID:1402641|PMID:14610673|PMID:15216558|PMID:15228183|PMID:15280569|PMID:15312137|PMID:15492850|PMID:16199547|PMID:16508982|PMID:16635178|PMID:16684962|PMID:16707534|PMID:17576681|PMID:18086728|PMID:18180277|PMID:18408954|PMID:18512793|PMID:19541728|PMID:19917181|PMID:20457915|PMID:20532935|PMID:20576331|PMID:21029567|PMID:21113948|PMID:21420073|PMID:22311714|PMID:22343913|PMID:22566169|PMID:22801493|PMID:22918594|PMID:23117241|PMID:23322460|PMID:23745996|PMID:23894535|PMID:23965844|PMID:24033266|PMID:24064022|PMID:24251727|PMID:24295430|PMID:24393624|PMID:25326637|PMID:25387410|PMID:25640679|PMID:25741868|PMID:25936627|PMID:26078218|PMID:26598380|PMID:27264265|PMID:27332769|PMID:28427379|PMID:28492532|PMID:28814775|PMID:29047407|PMID:31216807|PMID:31429073|PMID:31562507|PMID:32248184|PMID:32380704|PMID:32831641|PMID:35753512|PMID:7156325|PMID:9529351|PMID:9536098|PMID:9585614 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0090018 autosomal dominant familial periodic fever susceptibility ISO RGD:737288 D RGD:7240710 20240320 OMIM 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:0111621 Temtamy syndrome ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:10325 silicosis ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:11208652|REF_RGD_ID:5131150 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:10457 Legionnaires' disease ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:18838275|REF_RGD_ID:5131445 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:17724122|REF_RGD_ID:13825267 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:20110607|REF_RGD_ID:13825249 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid: PMID:21978728|REF_RGD_ID:13825268 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:10652 Alzheimer's disease no_association ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:17267158|REF_RGD_ID:13825266 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:11159038|REF_RGD_ID:5131147 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome ISO RGD:734247 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:21512145|REF_RGD_ID:5131206 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:21070800|REF_RGD_ID:5131145 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11394 adult respiratory distress syndrome severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21283009|REF_RGD_ID:5131096 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11446 sciatic neuropathy ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglia (rat) PMID:11240015|REF_RGD_ID:5130963 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11446 sciatic neuropathy ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:9582261|REF_RGD_ID:5130898 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:11832 visual epilepsy ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:1205 allergic disease ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:12236 primary biliary cholangitis ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:734247 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21221075|REF_RGD_ID:7245511 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:13141 uveitis ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:12824249|REF_RGD_ID:5131249 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:13141 uveitis ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15746567|REF_RGD_ID:8661746 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:13141 uveitis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:19440225|REF_RGD_ID:13825264 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:13166 allergic bronchopulmonary aspergillosis susceptibility ISO RGD:737288 D RGD:9068941 20200609 RGD DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) PMID:20646338|REF_RGD_ID:5131174 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:13241 Behcet's disease ISO RGD:737288 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Behcet disease PMID:25741868|PMID:27264265|PMID:28492532|PMID:28814775 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:1380 endometrial cancer ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:8920779|REF_RGD_ID:5131439 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:14550 root resorption ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:22372265|REF_RGD_ID:13825431 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:1485 cystic fibrosis ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16463024 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:1520 colon carcinoma ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:1655258|REF_RGD_ID:5131434 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:1749 squamous cell carcinoma ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:15044707|REF_RGD_ID:8661739 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:224 transient cerebral ischemia ISO RGD:621237 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum,hippocampus: PMID:11412877|REF_RGD_ID:13825263 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:224 transient cerebral ischemia treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:21868309|REF_RGD_ID:8661762 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2316 brain ischemia ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:16442237|REF_RGD_ID:1624184 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2316 brain ischemia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2349 arteriosclerosis susceptibility ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:17442899|REF_RGD_ID:1624181 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2355 anemia ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2377 multiple sclerosis ISO RGD:737288 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to, 5 PMID:22801493|PMID:24033266|PMID:25741868|PMID:28492532 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2377 multiple sclerosis susceptibility ISO RGD:737288 D RGD:7240710 20240320 OMIM 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2394 ovarian cancer disease_progression ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19825522|REF_RGD_ID:2315115 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2841 asthma ISO RGD:734247 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20484920|REF_RGD_ID:5131201 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2921 glomerulonephritis disease_progression ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:20525973|REF_RGD_ID:7245516 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2921 glomerulonephritis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:23400706|REF_RGD_ID:7245540 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737288 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10199409|PMID:11443543|PMID:16508982|PMID:16635178|PMID:16684962|PMID:18512793|PMID:19917181|PMID:21029567|PMID:22311714|PMID:22801493|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24033266|PMID:24393624|PMID:25326637|PMID:25741868|PMID:25936627|PMID:26598380|PMID:28492532 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737288 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10199409|PMID:11443543|PMID:16508982|PMID:16635178|PMID:16684962|PMID:18512793|PMID:19917181|PMID:21029567|PMID:22311714|PMID:22801493|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24033266|PMID:24393624|PMID:25326637|PMID:25741868|PMID:25936627|PMID:26598380|PMID:27264265|PMID:28492532|PMID:28814775|PMID:32380704|PMID:32831641 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:737288 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10199409|PMID:11443543|PMID:16508982|PMID:16635178|PMID:16684962|PMID:18512793|PMID:19917181|PMID:21029567|PMID:22311714|PMID:22801493|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24033266|PMID:24393624|PMID:25326637|PMID:25741868|PMID:25936627|PMID:26598380|PMID:27264265|PMID:28492532|PMID:28814775|PMID:32380704|PMID:32831641|PMID:35753512 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2986 IgA glomerulonephritis ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16209246|REF_RGD_ID:6907414 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2986 IgA glomerulonephritis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:9844059|REF_RGD_ID:6909132 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:2987 familial mediterranean fever ISO RGD:737288 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial Periodic Fever PMID:25741868 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure ISO RGD:734247 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:12023385|REF_RGD_ID:7245535 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Acute Lung Injury PMID:18074478|REF_RGD_ID:5128661 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Shock, Septic;protein:increased expression:serum PMID:12500222|REF_RGD_ID:7245534 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3021 acute kidney failure susceptibility ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:21150875|REF_RGD_ID:7245548 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:19643942|REF_RGD_ID:5131203 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:326 ischemia ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:14970118|REF_RGD_ID:1624195 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3355 fibrosarcoma ISO RGD:737288 D RGD:9068941 20200609 RGD human gene in mouse model PMID:10753499|REF_RGD_ID:5131435 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3393 coronary artery disease severity ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:19845893|REF_RGD_ID:5131425 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3525 middle cerebral artery infarction ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:15647744|REF_RGD_ID:13825261 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:20824709|REF_RGD_ID:5131156 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737288 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-329G>T rs4149570 (human) PMID:20422457|REF_RGD_ID:5131202 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:417 autoimmune disease ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21074606 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:4450 renal cell carcinoma ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:7912320|REF_RGD_ID:5131437 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:5199 ureteral obstruction ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:19541932|REF_RGD_ID:7245519 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:5327 retinal detachment ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:21402953|REF_RGD_ID:5131257 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:552 pneumonia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:557 kidney disease ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:5844 myocardial infarction ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:15117889|PMID:20651834|REF_RGD_ID:1624194|REF_RGD_ID:5130975 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:5844 myocardial infarction ISO RGD:621237 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle myocardium (rat) PMID:21362018|REF_RGD_ID:5130892 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:6000 congestive heart failure ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360360 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:630 genetic disease ISO RGD:737288 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11443543|PMID:16508982|PMID:18512793|PMID:19917181|PMID:23322460|PMID:23745996|PMID:23965844|PMID:24393624|PMID:25741868|PMID:26598380|PMID:28492532|PMID:32380704|PMID:32831641|PMID:35753512 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:635 acquired immunodeficiency syndrome ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:8548330|REF_RGD_ID:12904035 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:6543 acne ISO RGD:737288 D RGD:9068941 20200609 RGD DNA:SNP: :p,M196R (676T>G) (human) PMID:20556591|REF_RGD_ID:8661742 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:7148 rheumatoid arthritis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD DNA:SNP:promoter:36G>A (human) PMID:25311255|REF_RGD_ID:12904065 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:783 end stage renal disease ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:22266663|REF_RGD_ID:7245510 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:841 extrinsic allergic alveolitis ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage (human) PMID:15929959|REF_RGD_ID:5131148 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:874 bacterial pneumonia ISO RGD:734247 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse) PMID:19842848|REF_RGD_ID:5131429 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:8778 Crohn's disease ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:large intestine mucosa (rat) PMID:21359923|REF_RGD_ID:5130893 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:8778 Crohn's disease treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:22531889|REF_RGD_ID:8661753 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:8893 psoriasis treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:15998370|REF_RGD_ID:8661740 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000039 Spinal Cord Injuries ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:16083358|REF_RGD_ID:1624185 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000099 Experimental Colitis treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:21296062|REF_RGD_ID:8661763 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000310 Lung Injury ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10781441 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000641 Pain ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion (rat) PMID:21248590|REF_RGD_ID:5130897 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000972 Fever ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11175303 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000972 Fever susceptibility ISO RGD:737288 D RGD:9068941 20200609 RGD autosomal dominant, familial, periodic fever, OMIM:142680 ;DNA:missense mutation: :p.C30S PMID:10902757|REF_RGD_ID:1624177 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000998 Brain Injuries ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17074049|REF_RGD_ID:1624183 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9000998 Brain Injuries ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9001109 Anorexia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18801959 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9001472 Nasal Polyps ISO RGD:737288 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal polyp (human) PMID:19095579|REF_RGD_ID:5131442 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9001488 Human Influenza ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:17182684|REF_RGD_ID:5131157 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9001488 Human Influenza ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19497758|REF_RGD_ID:5131432 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9001553 Spinal Cord Compression ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:21224756|REF_RGD_ID:5130917 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9001579 Neurogenic Inflammation ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:23333565|REF_RGD_ID:7245573 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002159 Liver Reperfusion Injury ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased localization:mitochondrion PMID:23423194|REF_RGD_ID:8661760 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:serum PMID:19073786|REF_RGD_ID:2311357 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002165 Diabetic Nephropathies ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22042131|REF_RGD_ID:7245547 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:12752784|REF_RGD_ID:5130913 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia ISO RGD:621237 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22652595|REF_RGD_ID:8661750 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:20417692|PMID:21145890|REF_RGD_ID:5130939|REF_RGD_ID:8661726 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:21712071|REF_RGD_ID:8548873 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002211 Hyperalgesia treatment ISO RGD:621237 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:24257399|REF_RGD_ID:8661737 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:21690068|PMID:23052485|REF_RGD_ID:7245941|REF_RGD_ID:8661761 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:20370892|REF_RGD_ID:8661729 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9002992 Nematode Infections ISO RGD:621237 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20695884|REF_RGD_ID:5130965 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum, granulocyte PMID:19690440|REF_RGD_ID:7245518 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9004009 Reperfusion Injury ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:17109621|REF_RGD_ID:1624182 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:737288 D RGD:9068941 20200609 RGD PMID:21152182|REF_RGD_ID:8661764 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9004994 Embryo Loss ISO RGD:734247 D RGD:9068941 20221117 RGD PMID:22972987|REF_RGD_ID:155663421 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9005532 Muscle Weakness ISO RGD:734247 D RGD:9068941 20200609 RGD Diaphragm Weakness PMID:21097524|REF_RGD_ID:5130943 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21481476|REF_RGD_ID:5131250 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12193562 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734247 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:22728466|REF_RGD_ID:7245543 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9006549 Enterovirus Infections ISO RGD:734247 D RGD:9068941 20200609 RGD Rhinovirus Infections PMID:19864593|REF_RGD_ID:5131210 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:19635911|REF_RGD_ID:8661744 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9006646 Metabolic Syndrome ISO RGD:737288 D RGD:9068941 20200609 RGD associated with obesity;protein:increased expression:plasma PMID:17200772|REF_RGD_ID:1624178 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007346 Cachexia ISO RGD:621237 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;protein, mRNA:increased expression:skeletal muscle, adipose tissue PMID:16077938|REF_RGD_ID:1624190 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007346 Cachexia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18801959 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007417 Pseudomonas Infections ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:20448050|REF_RGD_ID:5131427 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007480 Hyperoxia ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10781441 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:621237 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15164724|REF_RGD_ID:1580295 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007692 Insulin Resistance ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression PMID:11882518|REF_RGD_ID:1624180 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007956 Febrile Seizures ISO RGD:737288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868|PMID:28492532 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:737288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9007996 End Stage Liver Disease treatment ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:23874752|REF_RGD_ID:8661754 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9008091 Optic Nerve Injuries ISO RGD:621237 D RGD:9068941 20200609 RGD PMID:18552980|REF_RGD_ID:7794683 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9008091 Optic Nerve Injuries ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:14697498|REF_RGD_ID:8661743 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9008604 Radiation Pneumonitis ISO RGD:734247 D RGD:9068941 20200609 RGD PMID:18347190|REF_RGD_ID:5131153 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9074 systemic lupus erythematosus severity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:8393677|REF_RGD_ID:7245539 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9120 amyloidosis ISO RGD:737288 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid PMID:14613268|REF_RGD_ID:10450570 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:621237 D RGD:9068941 20200609 RGD mRNA:increased expression:coronary artery (rat) PMID:20559450|REF_RGD_ID:5130987 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11882518 8954407 Tnfrsf1a TNF receptor superfamily member 1A gene DOID:9970 obesity ISO RGD:737288 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12935365|REF_RGD_ID:1624179 8954425 Ms4a6a membrane spanning 4-domains A6A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323386 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8954425 Ms4a6a membrane spanning 4-domains A6A gene DOID:1059 intellectual disability ISO RGD:1323386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8954425 Ms4a6a membrane spanning 4-domains A6A gene DOID:2986 IgA glomerulonephritis ISO RGD:1323386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8954425 Ms4a6a membrane spanning 4-domains A6A gene DOID:630 genetic disease ISO RGD:1323386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954425 Ms4a6a membrane spanning 4-domains A6A gene DOID:9775 diastolic heart failure ISO RGD:1323386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0050572 cone-rod dystrophy ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0080150 adrenocorticotropic hormone deficiency ISO RGD:732416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACTH deficiency PMID:18632300|PMID:25741868|PMID:28492532|PMID:30576320|PMID:31273949|PMID:31630094|PMID:9326941|PMID:9501220|PMID:9843205 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:732416 D RGD:7240710 20180130 OMIM 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:732416 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER II | ClinVar Annotator: match by term: Leber congenital amaurosis 2 PMID:10090910|PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11264131|PMID:11295838|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:14962443|PMID:14971589|PMID:15024725|PMID:15512997|PMID:15557452|PMID:15837919|PMID:16096063|PMID:16123401|PMID:16123440|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16505055|PMID:16754667|PMID:16828753|PMID:17197551|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18441371|PMID:18484312|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:19920137|PMID:19959640|PMID:20043869|PMID:20079931|PMID:20604683|PMID:20683928|PMID:20801516|PMID:20811047|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21602930|PMID:21654732|PMID:21911650|PMID:22164218|PMID:22334370|PMID:22509104|PMID:23591405|PMID:23661368|PMID:23661369|PMID:23878505|PMID:24066033|PMID:24265693|PMID:24849605|PMID:24997176|PMID:25097241|PMID:25257057|PMID:25324289|PMID:25356976|PMID:25383945|PMID:25495949|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26047050|PMID:26147992|PMID:26306921|PMID:26355662|PMID:26364624|PMID:26427455|PMID:26605849|PMID:26626312|PMID:26656277|PMID:26667666|PMID:26906952|PMID:27102010|PMID:27208204|PMID:27307694|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28041994|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28393863|PMID:28492532|PMID:28559085|PMID:28714225|PMID:28838317|PMID:28945494|PMID:29033008|PMID:29068479|PMID:29178642|PMID:29186038|PMID:29332120|PMID:29641573|PMID:29659842|PMID:29681726|PMID:29785639|PMID:29947567|PMID:30025081|PMID:30268864|PMID:30576320|PMID:30628748|PMID:30653986|PMID:30718709|PMID:30870047|PMID:30924848|PMID:30996589|PMID:31054281|PMID:31174678|PMID:31273949|PMID:31379919|PMID:31429209|PMID:31456290|PMID:31580392|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31878136|PMID:31957135|PMID:31960602|PMID:31964843|PMID:32037395|PMID:32165824|PMID:32347917|PMID:32367544|PMID:32581362|PMID:32865313|PMID:33090715|PMID:33308271|PMID:33472769|PMID:33494148|PMID:33576794|PMID:33629268|PMID:33749171|PMID:33952291|PMID:34492281|PMID:34830511|PMID:34906458|PMID:34906470|PMID:35129589|PMID:35836572|PMID:36460718|PMID:36909829|PMID:4492281|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9801879|PMID:9843205 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110016 Leber congenital amaurosis 2 treatment ISO RGD:732416 D RGD:9068941 20200609 RGD human gene in mouse model PMID:16505056|REF_RGD_ID:9495919 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110353 retinitis pigmentosa 20 ISO RGD:732416 D RGD:7240710 20180130 OMIM 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0110353 retinitis pigmentosa 20 ISO RGD:732416 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 20 PMID:10090910|PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:14971589|PMID:15024725|PMID:15512997|PMID:15557452|PMID:16123401|PMID:16123440|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:16828753|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18441371|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:19920137|PMID:19959640|PMID:20079931|PMID:20604683|PMID:20683928|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21602930|PMID:21654732|PMID:21911650|PMID:24066033|PMID:24265693|PMID:24849605|PMID:24997176|PMID:25257057|PMID:25324289|PMID:25495949|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26355662|PMID:26605849|PMID:26626312|PMID:26906952|PMID:27307694|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28041994|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29186038|PMID:29332120|PMID:29659842|PMID:29681726|PMID:29947567|PMID:30268864|PMID:30576320|PMID:30628748|PMID:30718709|PMID:30870047|PMID:31273949|PMID:31379919|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31878136|PMID:31957135|PMID:32037395|PMID:32165824|PMID:32367544|PMID:33494148|PMID:33629268|PMID:35129589|PMID:36909829|PMID:4492281|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9843205 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0111004 Joubert syndrome 9 ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 PMID:10766140|PMID:16123440|PMID:19431183|PMID:24265693|PMID:25741868|PMID:28492532 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0111021 cone-rod dystrophy 15 ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 15 PMID:25741868|PMID:28492532 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0112144 retinitis pigmentosa 87 ISO RGD:732416 D RGD:7240710 20200101 OMIM 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:0112144 retinitis pigmentosa 87 ISO RGD:732416 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 87 with choroidal involvement PMID:10090910|PMID:11462243|PMID:11786058|PMID:12960219|PMID:14971589|PMID:15024725|PMID:16150724|PMID:16199547|PMID:16205573|PMID:17576681|PMID:17724218|PMID:18632300|PMID:18722466|PMID:19431183|PMID:19854499|PMID:19920137|PMID:20604683|PMID:20683928|PMID:21151602|PMID:21211845|PMID:21654732|PMID:21911650|PMID:25257057|PMID:25741868|PMID:26024124|PMID:26626312|PMID:27307694|PMID:28041643|PMID:28041994|PMID:28224992|PMID:28492532|PMID:29659842|PMID:29947567|PMID:30628748|PMID:31379919|PMID:31456290|PMID:35129589|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9843205 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:10584 retinitis pigmentosa ISO RGD:732416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10090910|PMID:10766140|PMID:10937591|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:14971589|PMID:15024725|PMID:15557452|PMID:16123440|PMID:16150724|PMID:16754667|PMID:17197551|PMID:17964524|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19920137|PMID:20079931|PMID:20683928|PMID:20811047|PMID:21153841|PMID:21602930|PMID:23105016|PMID:23591405|PMID:24265693|PMID:24849605|PMID:25257057|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26047050|PMID:26306921|PMID:26355662|PMID:26626312|PMID:26656277|PMID:26906952|PMID:27102010|PMID:27874104|PMID:28041643|PMID:28492532|PMID:29332120|PMID:29681726|PMID:29785639|PMID:30268864|PMID:30576320|PMID:30718709|PMID:30870047|PMID:31273949|PMID:31630094|PMID:31725702|PMID:32581362|PMID:33576794|PMID:9326941|PMID:9501220|PMID:9843205 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:10584 retinitis pigmentosa ISO RGD:732416 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10090910|PMID:10766140|PMID:10937591|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:14971589|PMID:15024725|PMID:15557452|PMID:16123440|PMID:16150724|PMID:16754667|PMID:17197551|PMID:17964524|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:18722466|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19920137|PMID:20079931|PMID:20683928|PMID:20811047|PMID:21153841|PMID:21602930|PMID:23105016|PMID:23591405|PMID:24265693|PMID:24849605|PMID:25257057|PMID:25324289|PMID:25356976|PMID:25495949|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26047050|PMID:26306921|PMID:26355662|PMID:26626312|PMID:26656277|PMID:26906952|PMID:27102010|PMID:27874104|PMID:28041643|PMID:28492532|PMID:29186038|PMID:29332120|PMID:29681726|PMID:29785639|PMID:30268864|PMID:30576320|PMID:30718709|PMID:30870047|PMID:31273949|PMID:31630094|PMID:31725702|PMID:31878136|PMID:32581362|PMID:32865313|PMID:33576794|PMID:33629268|PMID:34492281|PMID:34830511|PMID:34906470|PMID:36909829|PMID:4492281|PMID:9326941|PMID:9501220|PMID:9843205 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:732417 D RGD:9068941 20200609 RGD PMID:20164818|REF_RGD_ID:9585645 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:1059 intellectual disability ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:12849 autistic disorder ISO RGD:732416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:32581362 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:1432 blindness ISO RGD:732416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16150724|PMID:16226919 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:14791 Leber congenital amaurosis ISO RGD:732416 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:10090910|PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11264131|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:14962443|PMID:15024725|PMID:15512997|PMID:15557452|PMID:15837919|PMID:16123401|PMID:16123440|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:16828753|PMID:17197551|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18441371|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:19920137|PMID:19959640|PMID:20079931|PMID:20604683|PMID:20683928|PMID:20801516|PMID:20811047|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21602930|PMID:21911650|PMID:22334370|PMID:23591405|PMID:23661369|PMID:24066033|PMID:24265693|PMID:24849605|PMID:24997176|PMID:25097241|PMID:25257057|PMID:25324289|PMID:25356976|PMID:25495949|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26047050|PMID:26355662|PMID:26364624|PMID:26427455|PMID:26605849|PMID:26626312|PMID:26656277|PMID:26906952|PMID:27102010|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28492532|PMID:28714225|PMID:29033008|PMID:29186038|PMID:29332120|PMID:29681726|PMID:29785639|PMID:30025081|PMID:30268864|PMID:30653986|PMID:30718709|PMID:30870047|PMID:30924848|PMID:30996589|PMID:31273949|PMID:31456290|PMID:31736247|PMID:31878136|PMID:31964843|PMID:32037395|PMID:32165824|PMID:32347917|PMID:32581362|PMID:32865313|PMID:33308271|PMID:33472769|PMID:33494148|PMID:33629268|PMID:33749171|PMID:34492281|PMID:34830511|PMID:34906458|PMID:34906470|PMID:35129589|PMID:35836572|PMID:36909829|PMID:4492281|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9801879|PMID:9843205 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:14791 Leber congenital amaurosis ISO RGD:732416 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:10090910|PMID:10766140|PMID:10937591|PMID:11035546|PMID:11095629|PMID:11264131|PMID:11462243|PMID:11786058|PMID:12960219|PMID:13616783|PMID:14962443|PMID:15024725|PMID:15512997|PMID:15557452|PMID:15837919|PMID:16123401|PMID:16123440|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:16828753|PMID:17197551|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18441371|PMID:18539930|PMID:18599565|PMID:18632300|PMID:18682808|PMID:19117922|PMID:19431183|PMID:19753312|PMID:19854499|PMID:19920137|PMID:19959640|PMID:20079931|PMID:20604683|PMID:20683928|PMID:20801516|PMID:20811047|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21602930|PMID:21911650|PMID:22334370|PMID:23591405|PMID:23661369|PMID:24066033|PMID:24265693|PMID:24849605|PMID:24997176|PMID:25097241|PMID:25257057|PMID:25324289|PMID:25356976|PMID:25495949|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26047050|PMID:26355662|PMID:26364624|PMID:26427455|PMID:26605849|PMID:26626312|PMID:26656277|PMID:26906952|PMID:27102010|PMID:27535533|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28181551|PMID:28224992|PMID:28492532|PMID:28714225|PMID:29033008|PMID:29186038|PMID:29332120|PMID:29681726|PMID:29785639|PMID:30025081|PMID:30268864|PMID:30653986|PMID:30718709|PMID:30870047|PMID:30924848|PMID:30996589|PMID:31273949|PMID:31429209|PMID:31456290|PMID:31736247|PMID:31878136|PMID:31964843|PMID:32037395|PMID:32165824|PMID:32347917|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33308271|PMID:33472769|PMID:33494148|PMID:33629268|PMID:33749171|PMID:34492281|PMID:34830511|PMID:34906458|PMID:34906470|PMID:35129589|PMID:35836572|PMID:36909829|PMID:37704110|PMID:4492281|PMID:9326927|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9801879|PMID:9843205 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:1749 squamous cell carcinoma ISO RGD:732416 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin (human) PMID:16181461|REF_RGD_ID:9495923 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:2513 basal cell carcinoma ISO RGD:732416 D RGD:9068941 20200609 RGD mRNA:increased expression:skin (human) PMID:16181461|REF_RGD_ID:9495923 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:630 genetic disease ISO RGD:732416 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10766140|PMID:10937591|PMID:11095629|PMID:11462243|PMID:16123401|PMID:16205573|PMID:16754667|PMID:17197551|PMID:18539930|PMID:18632300|PMID:18682808|PMID:19431183|PMID:19854499|PMID:20079931|PMID:20683928|PMID:25356976|PMID:25741868|PMID:25752820|PMID:26656277|PMID:28492532|PMID:30025081|PMID:30268864|PMID:30996589|PMID:31736247|PMID:32865313|PMID:34492281|PMID:34830511|PMID:35129589|PMID:35836572|PMID:9326941|PMID:9501220|PMID:9843205 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:705 Leber hereditary optic neuropathy ISO RGD:732416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16828753|PMID:17011878 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:8466 retinal degeneration ISO RGD:732416 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:16199547|PMID:18632300|PMID:25741868|PMID:28492532|PMID:32367544|PMID:9326941|PMID:9501220|PMID:9843205 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:8501 fundus dystrophy ISO RGD:732416 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10766140|PMID:10937591|PMID:11095629|PMID:11462243|PMID:11786058|PMID:12960219|PMID:15024725|PMID:16150724|PMID:16199547|PMID:16205573|PMID:16754667|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18599565|PMID:18632300|PMID:18682808|PMID:19117922|PMID:19431183|PMID:19854499|PMID:19959640|PMID:20043869|PMID:20604683|PMID:20683928|PMID:21151602|PMID:21153841|PMID:21211845|PMID:21654732|PMID:21911650|PMID:24849605|PMID:24997176|PMID:25257057|PMID:25525159|PMID:25741868|PMID:25752820|PMID:25972377|PMID:26024124|PMID:26427455|PMID:26626312|PMID:26906952|PMID:27208204|PMID:27307694|PMID:27874104|PMID:28041643|PMID:28041994|PMID:28224992|PMID:28492532|PMID:29178642|PMID:29332120|PMID:29659842|PMID:29785639|PMID:29947567|PMID:30268864|PMID:30628748|PMID:30718709|PMID:31379919|PMID:31456290|PMID:31630094|PMID:31736247|PMID:32037395|PMID:32165824|PMID:32581362|PMID:33308271|PMID:33494148|PMID:34906470|PMID:35129589|PMID:9326941|PMID:9501220|PMID:9536098|PMID:9843205 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:732416 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16968212 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732416 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:21654732|PMID:25741868|PMID:27307694|PMID:28041994|PMID:28492532|PMID:29659842|PMID:29947567|PMID:30628748|PMID:31379919 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621396 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina (rat) PMID:21862641|REF_RGD_ID:9585653 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:732416 D RGD:9068941 20200609 RGD human peptides in a rat model PMID:16109648|REF_RGD_ID:9585652 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:9008296 Eye Abnormalities ISO RGD:732416 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:10766140|PMID:10937591|PMID:11095629|PMID:16754667|PMID:18682808|PMID:19117922|PMID:19431183|PMID:21153841|PMID:25741868|PMID:25752820|PMID:26626312|PMID:27874104|PMID:28492532|PMID:30718709|PMID:9501220 8954432 Rpe65 retinoid isomerohydrolase RPE65 gene DOID:9649 congenital nystagmus ISO RGD:732416 D RGD:9068941 20210813 CTD CTD Direct Evidence: marker/mechanism PMID:32971638 8954454 Scaf4 SR-related CTD associated factor 4 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:25741868|PMID:28492532 8954454 Scaf4 SR-related CTD associated factor 4 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1317892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8954454 Scaf4 SR-related CTD associated factor 4 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1317892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8954454 Scaf4 SR-related CTD associated factor 4 gene DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ISO RGD:1317892 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868 8954454 Scaf4 SR-related CTD associated factor 4 gene DOID:1059 intellectual disability ISO RGD:1317892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8954454 Scaf4 SR-related CTD associated factor 4 gene DOID:630 genetic disease ISO RGD:1317892 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32730804|PMID:37394306 8954454 Scaf4 SR-related CTD associated factor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: SCAF4-associated Neurodevelopmental disorder PMID:25741868|PMID:32730804 8954454 Scaf4 SR-related CTD associated factor 4 gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:1317892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multicystic dysplastic kidney 8954454 Scaf4 SR-related CTD associated factor 4 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1317892 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:32730804 8954454 Scaf4 SR-related CTD associated factor 4 gene DOID:9008654 FLIEDNER-ZWEIER SYNDROME ISO RGD:1317892 D RGD:7240710 20231108 OMIM 8954454 Scaf4 SR-related CTD associated factor 4 gene DOID:9008654 FLIEDNER-ZWEIER SYNDROME ISO RGD:1317892 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Fliedner-Zweier syndrome PMID:25741868|PMID:32730804|PMID:36333968|PMID:37394306|PMID:7477272 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:0060224 atrial fibrillation ISO RGD:733381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20173747|PMID:30061737 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:10283 prostate cancer ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:1229 paranoid schizophrenia ISO RGD:733381 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:12007452|REF_RGD_ID:1358338 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:1540 parathyroid carcinoma ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:5419 schizophrenia ISO RGD:733381 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:9672903|REF_RGD_ID:1358671 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:5419 schizophrenia onset ISO RGD:733381 D RGD:9068941 20200609 RGD DNA:repeat:exon PMID:12007452|REF_RGD_ID:1358338 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:5812 MHC class II deficiency ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:630 genetic disease ISO RGD:733381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:9006063 Zimmermann-Laband Syndrome 3 ISO RGD:733381 D RGD:7240710 20191127 OMIM 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:9006063 Zimmermann-Laband Syndrome 3 ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 PMID:24033266|PMID:25741868|PMID:31155282 8954481 Kcnn3 potassium calcium-activated channel subfamily N member 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8954511 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:1059 intellectual disability ISO RGD:734100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8954511 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:12849 autistic disorder ISO RGD:734100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18272690 8954511 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:2030 anxiety disorder ISO RGD:734100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18272690 8954511 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:4450 renal cell carcinoma ISO RGD:734100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8954511 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:630 genetic disease ISO RGD:734100 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8954511 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:9008086 Developmental Disabilities ISO RGD:734100 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8954511 Shank1 SH3 and multiple ankyrin repeat domains 1 gene DOID:9923 developmental coordination disorder ISO RGD:734100 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20868654 8954543 Pld2 phospholipase D2 gene DOID:11832 visual epilepsy ISO RGD:3350 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15330336|REF_RGD_ID:2299910 8954543 Pld2 phospholipase D2 gene DOID:4450 renal cell carcinoma ISO RGD:733873 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11185526|REF_RGD_ID:2299898 8954543 Pld2 phospholipase D2 gene DOID:6000 congestive heart failure ISO RGD:3350 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:15601581|REF_RGD_ID:2299908 8954543 Pld2 phospholipase D2 gene DOID:630 genetic disease ISO RGD:733873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954543 Pld2 phospholipase D2 gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:733873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25065577 8954543 Pld2 phospholipase D2 gene DOID:9003936 Cardiomegaly ISO RGD:733873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15988127 8954543 Pld2 phospholipase D2 gene DOID:9004009 Reperfusion Injury ISO RGD:3350 D RGD:9068941 20200609 RGD mRNA:decreased expression:brainstem, cerebellum PMID:17024567|REF_RGD_ID:2299902 8954543 Pld2 phospholipase D2 gene DOID:9004009 Reperfusion Injury ISO RGD:3350 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, hippocampus granule cell layer PMID:17393174|REF_RGD_ID:2299901 8954543 Pld2 phospholipase D2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3350 D RGD:9068941 20200609 RGD protein:altered activity:sarcolemma, sarcoplasmic reticulum, heart left ventricle PMID:15752718|REF_RGD_ID:2299906 8954574 Fanca FA complementation group A gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1322810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8954574 Fanca FA complementation group A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8954574 Fanca FA complementation group A gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:1322810 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868 8954574 Fanca FA complementation group A gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1322810 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8954574 Fanca FA complementation group A gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1322810 D RGD:7240710 20181219 OMIM 8954574 Fanca FA complementation group A gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1322810 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:08896563|PMID:08896564|PMID:09371798|PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12827451|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19109555|PMID:19139070|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:20301575|PMID:20435624|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:2339692|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33332384|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33762291|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34422195|PMID:34426522|PMID:34512202|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35348533|PMID:37349538|PMID:8896563|PMID:8896564|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9929978 8954574 Fanca FA complementation group A gene DOID:10283 prostate cancer ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:10094191|PMID:24728327|PMID:25741868|PMID:26181256|PMID:28492532|PMID:28864460 8954574 Fanca FA complementation group A gene DOID:10907 microcephaly ISO RGD:1322810 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26689913|PMID:28202063|PMID:28492532|PMID:30032139 8954574 Fanca FA complementation group A gene DOID:11054 urinary bladder cancer ISO RGD:1322810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 8954574 Fanca FA complementation group A gene DOID:11054 urinary bladder cancer ISO RGD:1322810 D RGD:9068941 20200609 RGD PMID:19237606|REF_RGD_ID:11344902 8954574 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31192125|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31721781|PMID:32098966|PMID:33172906|PMID:33224012|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 8954574 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31192125|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31721781|PMID:32098966|PMID:33172906|PMID:33224012|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 8954574 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:31030435|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 8954574 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 8954574 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 8954574 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 8954574 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 8954574 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24123366|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34422195|PMID:34426522|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35348533|PMID:37349538|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 8954574 Fanca FA complementation group A gene DOID:13636 Fanconi anemia ISO RGD:1322810 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24123366|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33762291|PMID:33883933|PMID:33960719|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34422195|PMID:34426522|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35348533|PMID:37349538|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978 8954574 Fanca FA complementation group A gene DOID:13636 Fanconi anemia disease_progression ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:deletion PMID:11110674|REF_RGD_ID:11344914 8954574 Fanca FA complementation group A gene DOID:14780 KBG syndrome ISO RGD:1322810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 8954574 Fanca FA complementation group A gene DOID:1612 breast cancer ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:24728327|PMID:25741868|PMID:28492532 8954574 Fanca FA complementation group A gene DOID:1793 pancreatic cancer ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA,Protein:polymorphisms:exons:c.377C>G, c.661A>G (human) PMID:15591268|REF_RGD_ID:2317735 8954574 Fanca FA complementation group A gene DOID:2018 hyperinsulinism ISO RGD:1322810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22482891 8954574 Fanca FA complementation group A gene DOID:2394 ovarian cancer ISO RGD:1322810 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22950077|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28202063|PMID:28492532|PMID:29621589|PMID:30032139|PMID:34754157|PMID:9371798 8954574 Fanca FA complementation group A gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.S858R (human) PMID:21279724|REF_RGD_ID:11344913 8954574 Fanca FA complementation group A gene DOID:4362 cervical cancer ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :[rs2239359, rs7190823, rs7195066 (human) PMID:19012493|REF_RGD_ID:11344886 8954574 Fanca FA complementation group A gene DOID:4362 cervical cancer no_association ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:SNP: :rs11649196 (human) PMID:21543111|REF_RGD_ID:11344901 8954574 Fanca FA complementation group A gene DOID:5223 infertility ISO RGD:1322811 D RGD:9068941 20200609 RGD associated with Hypogonadism PMID:10915769|REF_RGD_ID:11344895 8954574 Fanca FA complementation group A gene DOID:5426 primary ovarian insufficiency ISO RGD:1322810 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532|PMID:28687356|PMID:28767289|PMID:33762291 8954574 Fanca FA complementation group A gene DOID:630 genetic disease ISO RGD:1322810 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30792206|PMID:32546565 8954574 Fanca FA complementation group A gene DOID:6846 familial melanoma ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 PMID:28492532 8954574 Fanca FA complementation group A gene DOID:687 hepatoblastoma ISO RGD:1322810 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 8954574 Fanca FA complementation group A gene DOID:769 neuroblastoma ISO RGD:1322810 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:15059067|PMID:17576681|PMID:24584348|PMID:25741868|PMID:27041517|PMID:28060124|PMID:28492532|PMID:29098742|PMID:9536098 8954574 Fanca FA complementation group A gene DOID:8923 skin melanoma disease_progression ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA:SNP: :rs62068372 (human) PMID:25243787|REF_RGD_ID:11344896 8954574 Fanca FA complementation group A gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1322810 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8954574 Fanca FA complementation group A gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:10521298|PMID:12444097|PMID:25741868 8954574 Fanca FA complementation group A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8954574 Fanca FA complementation group A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17924555|PMID:19367192|PMID:25741868|PMID:28492532 8954574 Fanca FA complementation group A gene DOID:9007692 Insulin Resistance ISO RGD:1322811 D RGD:9068941 20200609 RGD PMID:22482891|REF_RGD_ID:11046266 8954574 Fanca FA complementation group A gene DOID:9119 acute myeloid leukemia ISO RGD:1322810 D RGD:9068941 20200609 RGD DNA, mRNA:deletions, decreased expression: :multiple PMID:14749703|REF_RGD_ID:11344889 8954574 Fanca FA complementation group A gene DOID:9970 obesity ISO RGD:1322811 D RGD:9068941 20200609 RGD PMID:22482891|REF_RGD_ID:11046266 8954629 Mcur1 mitochondrial calcium uniporter regulator 1 gene DOID:630 genetic disease ISO RGD:1349094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954642 Qpctl glutaminyl-peptide cyclotransferase like gene DOID:630 genetic disease ISO RGD:1350934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954657 Pradc1 protease associated domain containing 1 gene DOID:0050473 Alstrom syndrome ISO RGD:1352558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 8954657 Pradc1 protease associated domain containing 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1352558 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8954657 Pradc1 protease associated domain containing 1 gene DOID:543 dystonia ISO RGD:1352558 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8954657 Pradc1 protease associated domain containing 1 gene DOID:630 genetic disease ISO RGD:1352558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954657 Pradc1 protease associated domain containing 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1352558 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8954667 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:0080473 developmental delay and seizures with or without movement abnormalities ISO RGD:1323083 D RGD:7240710 20190315 OMIM 8954667 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:0080473 developmental delay and seizures with or without movement abnormalities ISO RGD:1323083 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental delay and seizures with or without movement abnormalities PMID:25741868|PMID:28492532|PMID:29100083|PMID:31440733|PMID:31780880|PMID:33798445|PMID:34034154|PMID:34182312|PMID:34275143|PMID:34382076|PMID:34906498 8954667 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1323083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8954667 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1323083 D RGD:7240710 20180130 OMIM 8954667 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1323083 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ibb | ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:16199547|PMID:17576681|PMID:21295282|PMID:21295283|PMID:22110072|PMID:23590195|PMID:24033266|PMID:24078709|PMID:24664694|PMID:24664742|PMID:25066056|PMID:25255364|PMID:25541840|PMID:25741868|PMID:26261414|PMID:27343064|PMID:28130426|PMID:28454995|PMID:28492532|PMID:28542158|PMID:28559085|PMID:29100083|PMID:29276052|PMID:31047384|PMID:31440733|PMID:31456290|PMID:31780880|PMID:33798445|PMID:34034154|PMID:34182312|PMID:34275143|PMID:34382076|PMID:34906470|PMID:34906498|PMID:9536098 8954667 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:10584 retinitis pigmentosa ISO RGD:1323083 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:21295282|PMID:21295283|PMID:22110072|PMID:23590195|PMID:24033266|PMID:24078709|PMID:24664694|PMID:25066056|PMID:25255364|PMID:25541840|PMID:25741868|PMID:26261414|PMID:27343064|PMID:28130426|PMID:28492532|PMID:28542158|PMID:28559085|PMID:29276052|PMID:31456290|PMID:34906470 8954667 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:1826 epilepsy ISO RGD:1323083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8954667 Dhdds dehydrodolichyl diphosphate synthase subunit gene DOID:630 genetic disease ISO RGD:1323083 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:29100083|PMID:9536098 8954683 Poglut1 protein O-glucosyltransferase 1 gene DOID:0060256 Dowling-Degos disease ISO RGD:1604326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8954683 Poglut1 protein O-glucosyltransferase 1 gene DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z ISO RGD:1604326 D RGD:7240710 20190315 OMIM 8954683 Poglut1 protein O-glucosyltransferase 1 gene DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z ISO RGD:1604326 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Z | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2z | ClinVar Annotator: match by term: POGLUT1-related condition PMID:24387993|PMID:25741868|PMID:27807076|PMID:28492532|PMID:29569780|PMID:31897643 8954683 Poglut1 protein O-glucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1604326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8954683 Poglut1 protein O-glucosyltransferase 1 gene DOID:9003079 Dowling-Degos Disease 4 ISO RGD:1604326 D RGD:7240710 20180130 OMIM 8954683 Poglut1 protein O-glucosyltransferase 1 gene DOID:9003079 Dowling-Degos Disease 4 ISO RGD:1604326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 4 PMID:20664185|PMID:21971768|PMID:24387993|PMID:25741868|PMID:27479915|PMID:28492532|PMID:30414910 8954718 Slc4a10 solute carrier family 4 member 10 gene DOID:1059 intellectual disability ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413482 8954718 Slc4a10 solute carrier family 4 member 10 gene DOID:12849 autistic disorder ISO RGD:1348028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 8954718 Slc4a10 solute carrier family 4 member 10 gene DOID:1561 cognitive disorder ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413482 8954718 Slc4a10 solute carrier family 4 member 10 gene DOID:1826 epilepsy ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18165320 8954718 Slc4a10 solute carrier family 4 member 10 gene DOID:3331 frontal lobe epilepsy ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413482 8954718 Slc4a10 solute carrier family 4 member 10 gene DOID:630 genetic disease ISO RGD:1348028 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025 8954718 Slc4a10 solute carrier family 4 member 10 gene DOID:9428 intracranial hypertension ISO RGD:1348028 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18165320 8954781 Ctrl chymotrypsin like gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8954781 Ctrl chymotrypsin like gene DOID:2843 long QT syndrome ISO RGD:1346038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8954781 Ctrl chymotrypsin like gene DOID:630 genetic disease ISO RGD:1346038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954796 Pde4b phosphodiesterase 4B gene DOID:0050741 alcohol dependence susceptibility ISO RGD:733361 D RGD:9068941 20231102 RGD DNA:SNP:: (rs1937443) (human) PMID:18438686|REF_RGD_ID:401851917 8954796 Pde4b phosphodiesterase 4B gene DOID:1059 intellectual disability ISO RGD:733361 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8954796 Pde4b phosphodiesterase 4B gene DOID:12849 autistic disorder ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18090323 8954796 Pde4b phosphodiesterase 4B gene DOID:1574 alcohol use disorder ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8954796 Pde4b phosphodiesterase 4B gene DOID:2841 asthma ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21912604 8954796 Pde4b phosphodiesterase 4B gene DOID:3312 bipolar disorder ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18394866 8954796 Pde4b phosphodiesterase 4B gene DOID:37 skin disease ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8954796 Pde4b phosphodiesterase 4B gene DOID:5419 schizophrenia ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16293762|PMID:18394866 8954796 Pde4b phosphodiesterase 4B gene DOID:630 genetic disease ISO RGD:733361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954796 Pde4b phosphodiesterase 4B gene DOID:670 amphetamine abuse ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8954796 Pde4b phosphodiesterase 4B gene DOID:9007102 Myocardial Ischemia ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8954796 Pde4b phosphodiesterase 4B gene DOID:9007730 Burns ISO RGD:3280 D RGD:9068941 20200609 RGD mRNA:increased expression:extensor digitorum longus muscle PMID:29693432|REF_RGD_ID:13782127 8954796 Pde4b phosphodiesterase 4B gene DOID:9007964 Arsenic Poisoning ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8954796 Pde4b phosphodiesterase 4B gene DOID:9119 acute myeloid leukemia ISO RGD:733361 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8954832 Dlg2 discs large MAGUK scaffold protein 2 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:731938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 8954832 Dlg2 discs large MAGUK scaffold protein 2 gene DOID:1059 intellectual disability ISO RGD:731938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8954832 Dlg2 discs large MAGUK scaffold protein 2 gene DOID:1909 melanoma ISO RGD:731938 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8954832 Dlg2 discs large MAGUK scaffold protein 2 gene DOID:5419 schizophrenia ISO RGD:731938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8954832 Dlg2 discs large MAGUK scaffold protein 2 gene DOID:630 genetic disease ISO RGD:731938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954889 Stac3 SH3 and cysteine rich domain 3 gene DOID:0060346 Native American myopathy ISO RGD:1319045 D RGD:7240710 20180130 OMIM 8954889 Stac3 SH3 and cysteine rich domain 3 gene DOID:0060346 Native American myopathy ISO RGD:1319045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy PMID:16199547|PMID:17576681|PMID:23736855|PMID:25741868|PMID:28411587|PMID:28492532|PMID:28777491|PMID:30168660|PMID:31219695|PMID:32492370|PMID:9536098 8954889 Stac3 SH3 and cysteine rich domain 3 gene DOID:0080600 COVID-19 ISO RGD:1319045 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8954889 Stac3 SH3 and cysteine rich domain 3 gene DOID:630 genetic disease ISO RGD:1319045 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28411587|PMID:28492532|PMID:28777491|PMID:31219695 8954889 Stac3 SH3 and cysteine rich domain 3 gene DOID:6846 familial melanoma ISO RGD:1319045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8954889 Stac3 SH3 and cysteine rich domain 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8954889 Stac3 SH3 and cysteine rich domain 3 gene DOID:9005369 Hepatomegaly ISO RGD:1319045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8954889 Stac3 SH3 and cysteine rich domain 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1319045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8954913 Rgn regucalcin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8954913 Rgn regucalcin gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8954913 Rgn regucalcin gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 8954913 Rgn regucalcin gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8954913 Rgn regucalcin gene DOID:10534 stomach cancer severity ISO RGD:732128 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 8954913 Rgn regucalcin gene DOID:1168 familial hyperlipidemia ISO RGD:3560 D RGD:9068941 20200609 RGD PMID:15375596|REF_RGD_ID:9590273 8954913 Rgn regucalcin gene DOID:12849 autistic disorder ISO RGD:732128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8954913 Rgn regucalcin gene DOID:1289 neurodegenerative disease ISO RGD:11237 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:19437547|REF_RGD_ID:9590213 8954913 Rgn regucalcin gene DOID:5082 liver cirrhosis ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8954913 Rgn regucalcin gene DOID:557 kidney disease ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18805471 8954913 Rgn regucalcin gene DOID:630 genetic disease ISO RGD:732128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954913 Rgn regucalcin gene DOID:684 hepatocellular carcinoma ISO RGD:3560 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21683810|REF_RGD_ID:5509919 8954913 Rgn regucalcin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8954913 Rgn regucalcin gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8954913 Rgn regucalcin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8954913 Rgn regucalcin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3560 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:9062895|REF_RGD_ID:9590177 8954913 Rgn regucalcin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8954927 LOC102024473 chromosome unknown open reading frame, human C11orf96 gene DOID:1059 intellectual disability ISO RGD:4108561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8954932 Ajm1 apical junction component 1 homolog gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8954932 Ajm1 apical junction component 1 homolog gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:3302853 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8954932 Ajm1 apical junction component 1 homolog gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:3302853 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8954932 Ajm1 apical junction component 1 homolog gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8954932 Ajm1 apical junction component 1 homolog gene DOID:0080324 tuberous sclerosis 1 ISO RGD:3302853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8954932 Ajm1 apical junction component 1 homolog gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:3302853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8954932 Ajm1 apical junction component 1 homolog gene DOID:0080600 COVID-19 ISO RGD:3302853 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8954932 Ajm1 apical junction component 1 homolog gene DOID:0081097 Rafiq syndrome ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8954932 Ajm1 apical junction component 1 homolog gene DOID:0110980 Joubert syndrome 1 ISO RGD:3302853 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8954932 Ajm1 apical junction component 1 homolog gene DOID:3652 Leigh disease ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8954932 Ajm1 apical junction component 1 homolog gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:3302853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8954947 Inf2 inverted formin 2 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1343033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8954947 Inf2 inverted formin 2 gene DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E ISO RGD:1343033 D RGD:7240710 20180130 OMIM 8954947 Inf2 inverted formin 2 gene DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E ISO RGD:1343033 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate E PMID:20023659|PMID:20803156|PMID:21258034|PMID:21866090|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26086034|PMID:26467025|PMID:26764407|PMID:27350175|PMID:27549087|PMID:28492532|PMID:29653220|PMID:29869118|PMID:30126379|PMID:30373780|PMID:30406062|PMID:30586318|PMID:30680856|PMID:30773290|PMID:30962575|PMID:31924668|PMID:31937884|PMID:32451589|PMID:32604935|PMID:32901917|PMID:33443052|PMID:33712733|PMID:36506246|PMID:6054293 8954947 Inf2 inverted formin 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1343033 D RGD:7240710 20180130 OMIM 8954947 Inf2 inverted formin 2 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1343033 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition PMID:16199547|PMID:17576681|PMID:20023659|PMID:20803156|PMID:21258034|PMID:21415313|PMID:21866090|PMID:21998196|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23349334|PMID:23515051|PMID:24174593|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25676889|PMID:25741868|PMID:25741869|PMID:25943269|PMID:26086034|PMID:26248470|PMID:26467025|PMID:26467726|PMID:26764407|PMID:27350175|PMID:27549087|PMID:28166811|PMID:28492532|PMID:28658201|PMID:28780565|PMID:29653220|PMID:29869118|PMID:30126379|PMID:30373780|PMID:30406062|PMID:30586318|PMID:30680856|PMID:30773290|PMID:30962575|PMID:31328266|PMID:31515790|PMID:31924668|PMID:31937884|PMID:32451589|PMID:32604935|PMID:32901917|PMID:33443052|PMID:33712733|PMID:36506246|PMID:6054293|PMID:9536098 8954947 Inf2 inverted formin 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1343033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20023659|PMID:20803156|PMID:21258034|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:23521651|PMID:24174593|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25676889|PMID:25741868|PMID:25943269|PMID:26086034|PMID:26467025|PMID:26467726|PMID:26764407|PMID:27350175|PMID:28492532|PMID:28780565|PMID:31515790|PMID:31937884|PMID:32451589|PMID:32604935 8954947 Inf2 inverted formin 2 gene DOID:1184 nephrotic syndrome ISO RGD:1343033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:28492532|PMID:29127259 8954947 Inf2 inverted formin 2 gene DOID:12215 oligohydramnios ISO RGD:1343033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligohydramnios PMID:25741868 8954947 Inf2 inverted formin 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1343033 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:21866090|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30655312|PMID:32451589 8954947 Inf2 inverted formin 2 gene DOID:2921 glomerulonephritis ISO RGD:1343033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomerulonephritis PMID:25741868|PMID:28492532 8954947 Inf2 inverted formin 2 gene DOID:557 kidney disease ISO RGD:1343033 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:20023659|PMID:21866090|PMID:23515051|PMID:25165188|PMID:25741868|PMID:26086034|PMID:26467025|PMID:26764407|PMID:28492532|PMID:29869118|PMID:30126379|PMID:30406062|PMID:30586318|PMID:30773290|PMID:30962575|PMID:31924668|PMID:32901917|PMID:33443052|PMID:33712733|PMID:36506246 8954947 Inf2 inverted formin 2 gene DOID:576 proteinuria ISO RGD:1343033 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:20023659|PMID:20803156|PMID:21258034|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:27350175|PMID:28492532|PMID:31937884|PMID:32604935 8954947 Inf2 inverted formin 2 gene DOID:630 genetic disease ISO RGD:1343033 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20023659|PMID:21998196|PMID:22187985|PMID:22961558|PMID:23349334|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26086034|PMID:26248470|PMID:26467025|PMID:26764407|PMID:27549087|PMID:28166811|PMID:28492532|PMID:28658201|PMID:29869118|PMID:30126379|PMID:30586318|PMID:30680856|PMID:30773290|PMID:30962575|PMID:31924668|PMID:32901917|PMID:33443052|PMID:33712733|PMID:36506246|PMID:9536098 8954947 Inf2 inverted formin 2 gene DOID:784 chronic kidney disease ISO RGD:1343033 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 8954947 Inf2 inverted formin 2 gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:1343033 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 PMID:25741868 8954983 Gsr glutathione-disulfide reductase gene DOID:0050859 hemorrhagic cystitis ISO RGD:621747 D RGD:9068941 20200609 RGD protein:increased activity:urinary bladder: PMID:19107871|REF_RGD_ID:7257548 8954983 Gsr glutathione-disulfide reductase gene DOID:0080108 myoglobinuria ISO RGD:621747 D RGD:9068941 20200609 RGD protein:decreased activity:kidney: PMID:15452363|REF_RGD_ID:7257577 8954983 Gsr glutathione-disulfide reductase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24622831|REF_RGD_ID:10401873 8954983 Gsr glutathione-disulfide reductase gene DOID:0080855 Parkinsonism ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22721943 8954983 Gsr glutathione-disulfide reductase gene DOID:0080855 Parkinsonism treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:20951685|REF_RGD_ID:5128840 8954983 Gsr glutathione-disulfide reductase gene DOID:0111363 Heinz body anemia treatment ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:20692194|REF_RGD_ID:11059501 8954983 Gsr glutathione-disulfide reductase gene DOID:1037 lymphoid leukemia ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:8569275|REF_RGD_ID:11059504 8954983 Gsr glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease ISO RGD:732221 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:10096042|REF_RGD_ID:10401847 8954983 Gsr glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:17721818|REF_RGD_ID:10401827 8954983 Gsr glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:19374888|REF_RGD_ID:10401849 8954983 Gsr glutathione-disulfide reductase gene DOID:10652 Alzheimer's disease treatment ISO RGD:732222 D RGD:9068941 20200609 RGD PMID:21376020|REF_RGD_ID:10401857 8954983 Gsr glutathione-disulfide reductase gene DOID:10763 hypertension ISO RGD:732221 D RGD:9068941 20200609 RGD protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further PMID:17198913|REF_RGD_ID:1600704 8954983 Gsr glutathione-disulfide reductase gene DOID:10763 hypertension treatment ISO RGD:621747 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8954983 Gsr glutathione-disulfide reductase gene DOID:10923 sickle cell anemia ISO RGD:732222 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:14717789|REF_RGD_ID:11059503 8954983 Gsr glutathione-disulfide reductase gene DOID:11476 osteoporosis ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:19464221|REF_RGD_ID:10401828 8954983 Gsr glutathione-disulfide reductase gene DOID:11713 diabetic angiopathy ISO RGD:732221 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 8954983 Gsr glutathione-disulfide reductase gene DOID:11758 iron deficiency anemia ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:25097522|REF_RGD_ID:11059505 8954983 Gsr glutathione-disulfide reductase gene DOID:12241 beta thalassemia ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased activity:erythrocyte: PMID:20126808|REF_RGD_ID:11052141 8954983 Gsr glutathione-disulfide reductase gene DOID:12556 acute kidney tubular necrosis ISO RGD:621747 D RGD:9068941 20200609 RGD protein:decreased activity:renal cortex: PMID:12885594|REF_RGD_ID:7257573 8954983 Gsr glutathione-disulfide reductase gene DOID:12556 acute kidney tubular necrosis ISO RGD:732222 D RGD:9068941 20200609 RGD PMID:17078987|REF_RGD_ID:7257555 8954983 Gsr glutathione-disulfide reductase gene DOID:12858 Huntington's disease treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:11490092|REF_RGD_ID:10401927 8954983 Gsr glutathione-disulfide reductase gene DOID:1289 neurodegenerative disease ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 8954983 Gsr glutathione-disulfide reductase gene DOID:1307 dementia ISO RGD:732221 D RGD:9068941 20200609 RGD associated with Uremia PMID:19242659|REF_RGD_ID:10401864 8954983 Gsr glutathione-disulfide reductase gene DOID:13328 diabetic cataract ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:12518238|REF_RGD_ID:10401829 8954983 Gsr glutathione-disulfide reductase gene DOID:224 transient cerebral ischemia treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:15525350|REF_RGD_ID:10401855 8954983 Gsr glutathione-disulfide reductase gene DOID:2355 anemia ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:5984971 8954983 Gsr glutathione-disulfide reductase gene DOID:251 alcohol-induced mental disorder treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24972622|REF_RGD_ID:10401897 8954983 Gsr glutathione-disulfide reductase gene DOID:2773 contact dermatitis ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8954983 Gsr glutathione-disulfide reductase gene DOID:3021 acute kidney failure ISO RGD:621747 D RGD:9068941 20200609 RGD glycerol-induced PMID:1870354|REF_RGD_ID:7257559 8954983 Gsr glutathione-disulfide reductase gene DOID:3021 acute kidney failure ISO RGD:732222 D RGD:9068941 20200609 RGD protein:decreased activity:kidney: PMID:22286819|REF_RGD_ID:7257585 8954983 Gsr glutathione-disulfide reductase gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16681429 8954983 Gsr glutathione-disulfide reductase gene DOID:3393 coronary artery disease ISO RGD:732221 D RGD:9068941 20200609 RGD cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood PMID:16338763|REF_RGD_ID:1600708 8954983 Gsr glutathione-disulfide reductase gene DOID:4448 macular degeneration ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased expression:blood PMID:7803358|REF_RGD_ID:10401825 8954983 Gsr glutathione-disulfide reductase gene DOID:4450 renal cell carcinoma ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased expression:kidney: PMID:18312938|REF_RGD_ID:7257550 8954983 Gsr glutathione-disulfide reductase gene DOID:583 hemolytic anemia ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13931269 8954983 Gsr glutathione-disulfide reductase gene DOID:5844 myocardial infarction treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25119867|REF_RGD_ID:10401898 8954983 Gsr glutathione-disulfide reductase gene DOID:585 nephrolithiasis ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:16670437|REF_RGD_ID:7257558 8954983 Gsr glutathione-disulfide reductase gene DOID:589 congenital hemolytic anemia ISO RGD:732221 D RGD:9068941 20200609 RGD protein:reduced_expression:erythrocytes,leukocytes:hemolysis triggered by consumption of fava beans PMID:947404|REF_RGD_ID:1600697 8954983 Gsr glutathione-disulfide reductase gene DOID:630 genetic disease ISO RGD:732221 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8954983 Gsr glutathione-disulfide reductase gene DOID:750 peptic ulcer disease treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24480520|REF_RGD_ID:10401900 8954983 Gsr glutathione-disulfide reductase gene DOID:783 end stage renal disease ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:20181004|REF_RGD_ID:7257547 8954983 Gsr glutathione-disulfide reductase gene DOID:783 end stage renal disease ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:lymphocyte: PMID:6463365|REF_RGD_ID:7257560 8954983 Gsr glutathione-disulfide reductase gene DOID:7998 hyperthyroidism ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 8954983 Gsr glutathione-disulfide reductase gene DOID:7998 hyperthyroidism treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25242845|REF_RGD_ID:10401891 8954983 Gsr glutathione-disulfide reductase gene DOID:83 cataract ISO RGD:732221 D RGD:9068941 20200609 RGD protein:reduced_expression PMID:947404|REF_RGD_ID:1600697 8954983 Gsr glutathione-disulfide reductase gene DOID:83 cataract treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24530554|REF_RGD_ID:10401885 8954983 Gsr glutathione-disulfide reductase gene DOID:8997 polycythemia vera ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:8569275|REF_RGD_ID:11059504 8954983 Gsr glutathione-disulfide reductase gene DOID:9000197 Edema ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 8954983 Gsr glutathione-disulfide reductase gene DOID:9000310 Lung Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24479952|REF_RGD_ID:10401875 8954983 Gsr glutathione-disulfide reductase gene DOID:9000808 Hypercholesterolemia treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24120393|PMID:24770475|REF_RGD_ID:10401874|REF_RGD_ID:10401896 8954983 Gsr glutathione-disulfide reductase gene DOID:9001191 Cadmium Poisoning treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24200859|REF_RGD_ID:10401881 8954983 Gsr glutathione-disulfide reductase gene DOID:9002165 Diabetic Nephropathies ISO RGD:732221 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased activity:kidney PMID:23626958|REF_RGD_ID:7257582 8954983 Gsr glutathione-disulfide reductase gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621747 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24947049|REF_RGD_ID:10401899 8954983 Gsr glutathione-disulfide reductase gene DOID:9002331 Knee Osteoarthritis ISO RGD:732221 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid PMID:16289733|REF_RGD_ID:10401830 8954983 Gsr glutathione-disulfide reductase gene DOID:9002644 Premature Aging ISO RGD:732222 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:16542809|REF_RGD_ID:10401826 8954983 Gsr glutathione-disulfide reductase gene DOID:9002644 Premature Aging treatment ISO RGD:732222 D RGD:9068941 20200609 RGD PMID:21903878|REF_RGD_ID:10401863 8954983 Gsr glutathione-disulfide reductase gene DOID:9002775 Cognitive Dysfunction ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:18320305|REF_RGD_ID:10401853 8954983 Gsr glutathione-disulfide reductase gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:621747 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8954983 Gsr glutathione-disulfide reductase gene DOID:9003936 Cardiomegaly treatment ISO RGD:621747 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 8954983 Gsr glutathione-disulfide reductase gene DOID:9004009 Reperfusion Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24904723|REF_RGD_ID:10401882 8954983 Gsr glutathione-disulfide reductase gene DOID:9004610 Acute Lung Injury ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:7896613|REF_RGD_ID:7257562 8954983 Gsr glutathione-disulfide reductase gene DOID:9004989 Protein Deficiency ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15865262 8954983 Gsr glutathione-disulfide reductase gene DOID:9005292 Organophosphate Poisoning treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24188896|REF_RGD_ID:10401876 8954983 Gsr glutathione-disulfide reductase gene DOID:9005452 Ureteral Calculi ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 8954983 Gsr glutathione-disulfide reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621747 D RGD:9068941 20200609 RGD protein:decreased activity:plasma: PMID:20187988|REF_RGD_ID:7257587 8954983 Gsr glutathione-disulfide reductase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620209 8954983 Gsr glutathione-disulfide reductase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25050809|REF_RGD_ID:10401889 8954983 Gsr glutathione-disulfide reductase gene DOID:9005930 Endotoxemia treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25469663|REF_RGD_ID:10401928 8954983 Gsr glutathione-disulfide reductase gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24630969|REF_RGD_ID:10401866 8954983 Gsr glutathione-disulfide reductase gene DOID:9006411 Testicular Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25446862|REF_RGD_ID:10401887 8954983 Gsr glutathione-disulfide reductase gene DOID:9007213 Hemolytic Anemia due to Glutathione Reductase Deficiency ISO RGD:732221 D RGD:7240710 20191211 OMIM 8954983 Gsr glutathione-disulfide reductase gene DOID:9007213 Hemolytic Anemia due to Glutathione Reductase Deficiency ISO RGD:732221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GSR-related condition | ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency PMID:25741868|PMID:28492532 8954983 Gsr glutathione-disulfide reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:621747 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:23554813|REF_RGD_ID:7257532 8954983 Gsr glutathione-disulfide reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513|PMID:28069987 8954983 Gsr glutathione-disulfide reductase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24154663|REF_RGD_ID:10401878 8954983 Gsr glutathione-disulfide reductase gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:24769323|REF_RGD_ID:10401892 8954983 Gsr glutathione-disulfide reductase gene DOID:9007964 Arsenic Poisoning ISO RGD:621747 D RGD:9068941 20200609 RGD PMID:25209654|REF_RGD_ID:10401880 8954983 Gsr glutathione-disulfide reductase gene DOID:9007980 Sleep Deprivation ISO RGD:621747 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, cortex, amygdala: PMID:21621560|REF_RGD_ID:11059509 8954983 Gsr glutathione-disulfide reductase gene DOID:9008691 Liver Injury ISO RGD:621747 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:22120977|REF_RGD_ID:10401865 8954983 Gsr glutathione-disulfide reductase gene DOID:9119 acute myeloid leukemia ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:24191316|REF_RGD_ID:11059506 8954983 Gsr glutathione-disulfide reductase gene DOID:9351 diabetes mellitus ISO RGD:732221 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:22540111|REF_RGD_ID:7257584 8954983 Gsr glutathione-disulfide reductase gene DOID:9669 senile cataract ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:12518238|REF_RGD_ID:10401829 8954983 Gsr glutathione-disulfide reductase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732221 D RGD:9068941 20200609 RGD PMID:24191316|REF_RGD_ID:11059506 8954983 Gsr glutathione-disulfide reductase gene DOID:9993 hypoglycemia ISO RGD:732221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20620209 8954999 Ifnlr1 interferon lambda receptor 1 gene DOID:630 genetic disease ISO RGD:1603554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8954999 Ifnlr1 interferon lambda receptor 1 gene DOID:8893 psoriasis ISO RGD:1603554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953190 8954999 Ifnlr1 interferon lambda receptor 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1603554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8955019 Cant1 calcium activated nucleotidase 1 gene DOID:0060462 Desbuquois dysplasia ISO RGD:1348972 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Desbuquois syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION PMID:19853239|PMID:25741868 8955019 Cant1 calcium activated nucleotidase 1 gene DOID:0070302 multiple epiphyseal dysplasia 7 ISO RGD:1348972 D RGD:7240710 20190315 OMIM 8955019 Cant1 calcium activated nucleotidase 1 gene DOID:0070302 multiple epiphyseal dysplasia 7 ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 7 PMID:20358597|PMID:21037275|PMID:21412251|PMID:25741868|PMID:28492532|PMID:28742282 8955019 Cant1 calcium activated nucleotidase 1 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:28492532|PMID:28742282 8955019 Cant1 calcium activated nucleotidase 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:28492532|PMID:28742282 8955019 Cant1 calcium activated nucleotidase 1 gene DOID:630 genetic disease ISO RGD:1348972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19853239|PMID:21037275|PMID:21654728|PMID:22539336|PMID:28492532 8955019 Cant1 calcium activated nucleotidase 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1348972 D RGD:7240710 20190327 OMIM 8955019 Cant1 calcium activated nucleotidase 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1348972 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:17576681|PMID:19853239|PMID:20358597|PMID:20358610|PMID:21037275|PMID:21412251|PMID:21654728|PMID:22539336|PMID:25741868|PMID:28492532|PMID:28742282|PMID:31587486|PMID:31988067|PMID:32907608|PMID:34270679|PMID:9536098 8955019 Cant1 calcium activated nucleotidase 1 gene DOID:9007661 Dwarfism ISO RGD:1348972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8955019 Cant1 calcium activated nucleotidase 1 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1348972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 8955044 Bricd5 BRICHOS domain containing 5 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1602822 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 8955044 Bricd5 BRICHOS domain containing 5 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1602822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 8955044 Bricd5 BRICHOS domain containing 5 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1602822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8955044 Bricd5 BRICHOS domain containing 5 gene DOID:1826 epilepsy ISO RGD:1602822 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8955044 Bricd5 BRICHOS domain containing 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8955044 Bricd5 BRICHOS domain containing 5 gene DOID:2871 endometrial carcinoma ISO RGD:1602822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8955044 Bricd5 BRICHOS domain containing 5 gene DOID:630 genetic disease ISO RGD:1602822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955044 Bricd5 BRICHOS domain containing 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1602822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8955068 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:16200211|PMID:18180188|PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25326635|PMID:25741868|PMID:26795593|PMID:27597947|PMID:28492532|PMID:31130284 8955068 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0080907 Cockayne syndrome A ISO RGD:1604552 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1 PMID:14661080|PMID:15744458|PMID:18180188|PMID:19329487|PMID:19384974|PMID:19894250|PMID:20571988|PMID:21681106|PMID:21924235|PMID:22099533|PMID:24033266|PMID:25333069|PMID:25741868|PMID:27597947|PMID:28492532|PMID:29572252 8955068 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:16200211|PMID:18180188|PMID:19384974|PMID:20571988|PMID:21924235|PMID:22099533|PMID:25326635|PMID:25741868|PMID:26795593|PMID:27597947|PMID:28492532|PMID:31130284 8955068 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0112075 nuclear type mitochondrial complex I deficiency 10 ISO RGD:1604552 D RGD:7240710 20190315 OMIM 8955068 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:0112075 nuclear type mitochondrial complex I deficiency 10 ISO RGD:1604552 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 PMID:16200211|PMID:18180188|PMID:19384974|PMID:20571988|PMID:20818383|PMID:21924235|PMID:22099533|PMID:25326635|PMID:25741868|PMID:26795593|PMID:27597947|PMID:28492532|PMID:31130284|PMID:34234304 8955068 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:2962 Cockayne syndrome ISO RGD:1604552 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cockayne syndrome | ClinVar Annotator: match by term: Progeroid nanism PMID:14661080|PMID:15744458|PMID:19329487|PMID:19894250|PMID:24033266|PMID:25333069|PMID:25741868|PMID:28492532|PMID:29572252 8955068 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:3652 Leigh disease ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:16200211|PMID:18180188|PMID:20818383|PMID:22644603|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284 8955068 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:3652 Leigh disease ISO RGD:1604552 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:16200211|PMID:18180188|PMID:20818383|PMID:22644603|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284|PMID:34234304 8955068 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:630 genetic disease ISO RGD:1604552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16200211|PMID:18180188|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284 8955068 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1604552 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:16200211|PMID:18180188|PMID:20818383|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284|PMID:34234304 8955068 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8955068 Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1604552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16200211 8955076 Zcrb1 zinc finger CCHC-type and RNA binding motif containing 1 gene DOID:630 genetic disease ISO RGD:1604568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955098 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1606198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 8955098 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:14701 propionic acidemia ISO RGD:1606198 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 8955098 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:4621 holoprosencephaly ISO RGD:1606198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 8955098 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:630 genetic disease ISO RGD:1606198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955098 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1606198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8955098 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:9007853 Worster-Drought Syndrome ISO RGD:1606198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Worster-Drought syndrome PMID:24375697 8955098 Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 gene DOID:9007894 Autosomal Recessive Nonsyndromic Deafness 122 ISO RGD:1606198 D RGD:7240710 20240221 OMIM 8955131 Edn2 endothelin 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:737548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8955131 Edn2 endothelin 2 gene DOID:10591 pre-eclampsia ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:9015697|REF_RGD_ID:1580919 8955131 Edn2 endothelin 2 gene DOID:10763 hypertension ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:10489105|PMID:10976780|REF_RGD_ID:1580916|REF_RGD_ID:1580917 8955131 Edn2 endothelin 2 gene DOID:10763 hypertension ISO RGD:737548 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte PMID:15007037|REF_RGD_ID:1625402 8955131 Edn2 endothelin 2 gene DOID:5844 myocardial infarction ISO RGD:2533 D RGD:9068941 20200609 RGD PMID:10573185|REF_RGD_ID:1580921 8955131 Edn2 endothelin 2 gene DOID:630 genetic disease ISO RGD:737548 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955131 Edn2 endothelin 2 gene DOID:6432 pulmonary hypertension ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:10598486|REF_RGD_ID:1580918 8955131 Edn2 endothelin 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2533 D RGD:9068941 20200609 RGD PMID:1479622|REF_RGD_ID:1580920 8955131 Edn2 endothelin 2 gene DOID:9004080 Aortic Rupture ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:11947982|REF_RGD_ID:1580915 8955131 Edn2 endothelin 2 gene DOID:9006024 Hypotension ISO RGD:737548 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1309933 8955131 Edn2 endothelin 2 gene DOID:9006045 Dissecting Aneurysm ISO RGD:737548 D RGD:9068941 20200609 RGD PMID:11947982|REF_RGD_ID:1580915 8955131 Edn2 endothelin 2 gene DOID:9007001 Bradycardia ISO RGD:737548 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1309933 8955153 Neto1 neuropilin and tolloid like 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1348864 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8955153 Neto1 neuropilin and tolloid like 1 gene DOID:630 genetic disease ISO RGD:1348864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955153 Neto1 neuropilin and tolloid like 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1348864 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8955153 Neto1 neuropilin and tolloid like 1 gene DOID:8445 intestinal volvulus ISO RGD:1348864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8955153 Neto1 neuropilin and tolloid like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8955153 Neto1 neuropilin and tolloid like 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1348864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1344611 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:25741868|PMID:28492532|PMID:32581362 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344611 D RGD:7240710 20180130 OMIM 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1344611 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: ASXL1-related condition | ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22237106|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:27069254|PMID:27276561|PMID:27895058|PMID:28492532 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:21576631|REF_RGD_ID:11038707 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:1344611 D RGD:9068941 20200609 RGD PMID:24045501|REF_RGD_ID:11038769 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1344611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1344611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:0060597 atypical chronic myeloid leukemia ISO RGD:1344611 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:0080188 chronic myelomonocytic leukemia disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations:exon: PMID:20880116|REF_RGD_ID:11038767 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency PMID:28492532 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:1059 intellectual disability ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe PMID:24728327|PMID:25741868|PMID:28492532 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:10907 microcephaly ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:1826 epilepsy ISO RGD:1344611 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:2154 nephroblastoma ISO RGD:1344611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:420 hypertrichosis ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichosis PMID:21706002|PMID:25741868 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:4797 SM-AHNMD disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:24465546|REF_RGD_ID:11038711 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:4971 myelofibrosis ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutation,deletion:exon:2475dupA, 2846_2847del (human) PMID:21712540|REF_RGD_ID:11038705 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:4971 myelofibrosis disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:23619563|REF_RGD_ID:11038768 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:630 genetic disease ISO RGD:1344611 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16412590|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25131622|PMID:25596267|PMID:25652455|PMID:25741868|PMID:25921057|PMID:26364555|PMID:27069254|PMID:27276561|PMID:27895058|PMID:28229513|PMID:28492532|PMID:30806792|PMID:31969346 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344611 D RGD:9068941 20210409 RGD associated with colorectal cancer PMID:32317519|REF_RGD_ID:126779580 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:9001582 Bohring Syndrome ISO RGD:1344611 D RGD:7240710 20180130 OMIM 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:9001582 Bohring Syndrome ISO RGD:1344611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bohring-Opitz syndrome PMID:16412590|PMID:18414213|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24033266|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:24728327|PMID:25131622|PMID:25326635|PMID:25596267|PMID:25652455|PMID:25741868|PMID:25921057|PMID:26364555|PMID:26467025|PMID:26633542|PMID:27069254|PMID:27276561|PMID:27895058|PMID:28492532|PMID:29681105|PMID:30147881|PMID:30158690|PMID:31692235|PMID:31969346|PMID:32581362 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1344611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:9005985 Rubinstein Taybi like Syndrome ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rubinstein Taybi like syndrome PMID:16412590|PMID:30806792 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1344611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:21706002|PMID:25741868|PMID:28492532 8955178 Asxl1 ASXL transcriptional regulator 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1344611 D RGD:9068941 20200609 RGD DNA:mutations:exon: PMID:20693432|REF_RGD_ID:11038706 8955205 Spmip8 sperm microtubule inner protein 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602955 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8955205 Spmip8 sperm microtubule inner protein 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602955 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8955205 Spmip8 sperm microtubule inner protein 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602955 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8955205 Spmip8 sperm microtubule inner protein 8 gene DOID:630 genetic disease ISO RGD:1602955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955222 Mpz myelin protein zero gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:737128 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:10071056|PMID:10084540|PMID:10093067|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10406984|PMID:10463363|PMID:10475757|PMID:1053307|PMID:10533074|PMID:10545037|PMID:10553995|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10885340|PMID:10923043|PMID:10965800|PMID:11080236|PMID:11080237|PMID:11160475|PMID:11182278|PMID:11437164|PMID:11438991|PMID:11445635|PMID:11484669|PMID:11545686|PMID:11673479|PMID:11801400|PMID:11835375|PMID:11935267|PMID:12090401|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12242557|PMID:12402337|PMID:12477701|PMID:12497641|PMID:12707985|PMID:12805115|PMID:12807974|PMID:12845552|PMID:12911457|PMID:12940837|PMID:12948789|PMID:12953275|PMID:14638973|PMID:14711881|PMID:14742601|PMID:14871447|PMID:15004559|PMID:15036333|PMID:15050444|PMID:15094849|PMID:15159512|PMID:15170620|PMID:15241803|PMID:15249646|PMID:15326256|PMID:15377707|PMID:15642860|PMID:15716547|PMID:15729519|PMID:16198109|PMID:16199547|PMID:16279991|PMID:16488608|PMID:16495463|PMID:16543539|PMID:16616845|PMID:16616847|PMID:16775239|PMID:16844954|PMID:16987171|PMID:17143884|PMID:17172621|PMID:17294201|PMID:17297707|PMID:17468193|PMID:17576681|PMID:17602703|PMID:17663472|PMID:17915947|PMID:17940173|PMID:18255032|PMID:18337304|PMID:18347322|PMID:18380021|PMID:18380030|PMID:18422810|PMID:18636082|PMID:18663734|PMID:19259128|PMID:19293842|PMID:19454582|PMID:19475438|PMID:19629567|PMID:19691535|PMID:19882637|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20385006|PMID:20456450|PMID:20461396|PMID:20516806|PMID:20544920|PMID:20556410|PMID:20571287|PMID:20621479|PMID:20800346|PMID:20878767|PMID:20937820|PMID:21107784|PMID:21149811|PMID:21256749|PMID:21326314|PMID:21363884|PMID:21504504|PMID:21787890|PMID:21840889|PMID:21940171|PMID:22018721|PMID:22176150|PMID:22222859|PMID:22433810|PMID:22451207|PMID:22622165|PMID:22689911|PMID:22704856|PMID:22734905|PMID:23197742|PMID:23250879|PMID:23279346|PMID:23290023|PMID:23342407|PMID:23649551|PMID:24028194|PMID:24033266|PMID:24053775|PMID:24444136|PMID:24819634|PMID:25025039|PMID:25326637|PMID:25429913|PMID:25448007|PMID:25614874|PMID:25694466|PMID:25720167|PMID:25741868|PMID:25954003|PMID:26135405|PMID:26234237|PMID:26310628|PMID:26378787|PMID:26392352|PMID:26406915|PMID:26454100|PMID:26467025|PMID:27025386|PMID:27088055|PMID:27164712|PMID:27344971|PMID:27353517|PMID:27614573|PMID:27618451|PMID:27639257|PMID:27774063|PMID:28286897|PMID:28490743|PMID:28492532|PMID:29136549|PMID:29174527|PMID:29465609|PMID:29670817|PMID:29687021|PMID:30677751|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31278453|PMID:31315766|PMID:31372974|PMID:31393079|PMID:31673878|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:33825325|PMID:34008892|PMID:34060176|PMID:34539730|PMID:3467805|PMID:38272032|PMID:6099985|PMID:7504284|PMID:7505151|PMID:7506095|PMID:7511317|PMID:7527371|PMID:7530550|PMID:7550231|PMID:7581451|PMID:7688964|PMID:7693129|PMID:7693130|PMID:7694726|PMID:8644725|PMID:8664899|PMID:8797476|PMID:8800924|PMID:8816708|PMID:8835320|PMID:8844219|PMID:8938258|PMID:8990016|PMID:9168174|PMID:9187667|PMID:9217235|PMID:9452091|PMID:9452099|PMID:9536098|PMID:9588852|PMID:9595994|PMID:9633821|PMID:9888385 8955222 Mpz myelin protein zero gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:737128 D RGD:7240710 20180425 OMIM 8955222 Mpz myelin protein zero gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:737128 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive Dejerine-Sottas syndrome | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 3 | ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-Sottas syndrome, autosomal dominant PMID:10084540|PMID:10399750|PMID:11596785|PMID:11835375|PMID:11935267|PMID:12242557|PMID:12402337|PMID:12805115|PMID:12845552|PMID:14711881|PMID:16495463|PMID:17143884|PMID:17576681|PMID:18255032|PMID:20385006|PMID:20461396|PMID:20878767|PMID:20937820|PMID:21363884|PMID:21504504|PMID:22734905|PMID:25326637|PMID:25741868|PMID:26310628|PMID:26467025|PMID:28492532|PMID:29687021|PMID:33179255|PMID:33825325|PMID:34539730|PMID:3467805|PMID:38272032|PMID:6099985|PMID:7506095|PMID:7530550|PMID:7581451|PMID:7693130|PMID:7694726|PMID:8630052|PMID:8664899|PMID:8816708|PMID:8835320|PMID:9452091|PMID:9536098|PMID:9888385 8955222 Mpz myelin protein zero gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 8955222 Mpz myelin protein zero gene DOID:0050771 pheochromocytoma ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 8955222 Mpz myelin protein zero gene DOID:0050773 paraganglioma ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:12807974|PMID:17468193|PMID:23342407|PMID:25741868|PMID:28492532 8955222 Mpz myelin protein zero gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor PMID:12807974|PMID:17468193|PMID:23342407|PMID:25741868|PMID:28492532 8955222 Mpz myelin protein zero gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8955222 Mpz myelin protein zero gene DOID:0090111 PCWH syndrome ISO RGD:10917 D RGD:9068941 20220825 MouseDO OMIM:609136 8955222 Mpz myelin protein zero gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:737128 D RGD:7240710 20180130 OMIM 8955222 Mpz myelin protein zero gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:737128 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1b | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IB | ClinVar Annotator: match by term: HEREDITARY MOTOR AND SENSORY NEUROPATHY IB PMID:10071056|PMID:10093067|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10475757|PMID:10545037|PMID:10553995|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10923043|PMID:10965800|PMID:11080237|PMID:11182278|PMID:11437164|PMID:11438991|PMID:11445635|PMID:11484669|PMID:11545686|PMID:11801400|PMID:11835375|PMID:12090401|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12242557|PMID:12402337|PMID:12477701|PMID:12497641|PMID:12707985|PMID:12805115|PMID:12845552|PMID:12911457|PMID:12940837|PMID:12948789|PMID:12953275|PMID:14638973|PMID:14711881|PMID:15004559|PMID:15036333|PMID:15050444|PMID:15094849|PMID:15159512|PMID:15170620|PMID:15241803|PMID:15249646|PMID:15377707|PMID:15642860|PMID:16279991|PMID:16488608|PMID:16495463|PMID:16521307|PMID:16543539|PMID:16775239|PMID:17030746|PMID:17143884|PMID:17172621|PMID:17294201|PMID:17576681|PMID:17915947|PMID:18209201|PMID:18255032|PMID:18337304|PMID:18347322|PMID:18422810|PMID:18636082|PMID:19259128|PMID:19293842|PMID:19475438|PMID:19629567|PMID:19691535|PMID:19882637|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20456450|PMID:20461396|PMID:20556410|PMID:20571287|PMID:20937820|PMID:21107784|PMID:21149811|PMID:21326314|PMID:21787890|PMID:21840889|PMID:22451207|PMID:22689911|PMID:22734905|PMID:23250879|PMID:23290023|PMID:23806086|PMID:24053775|PMID:24088041|PMID:24444136|PMID:25429913|PMID:25614874|PMID:25694466|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26257172|PMID:26310628|PMID:26378787|PMID:26392352|PMID:26406915|PMID:26454100|PMID:26467025|PMID:27088055|PMID:27353517|PMID:27614573|PMID:27639257|PMID:27774063|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29670817|PMID:29687021|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31372974|PMID:31673878|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:33825325|PMID:34060176|PMID:38272032|PMID:7504284|PMID:7505151|PMID:7506095|PMID:7511317|PMID:7527371|PMID:7550231|PMID:7581451|PMID:7688964|PMID:7693129|PMID:7693130|PMID:7694726|PMID:8310815|PMID:8630052|PMID:8644725|PMID:8664899|PMID:8797476|PMID:8800924|PMID:8816708|PMID:8835320|PMID:8938258|PMID:8990016|PMID:9168174|PMID:9187667|PMID:9452091|PMID:9452099|PMID:9536098|PMID:9595994|PMID:9633821|PMID:9888385 8955222 Mpz myelin protein zero gene DOID:0110157 Charcot-Marie-Tooth disease type 2J ISO RGD:737128 D RGD:7240710 20180130 OMIM 8955222 Mpz myelin protein zero gene DOID:0110157 Charcot-Marie-Tooth disease type 2J ISO RGD:737128 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities PMID:10071056|PMID:10329755|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11545686|PMID:12207153|PMID:12402337|PMID:12805115|PMID:12845552|PMID:12911457|PMID:12948789|PMID:14711881|PMID:15004559|PMID:15159512|PMID:15241803|PMID:15326256|PMID:15377707|PMID:16279991|PMID:16775239|PMID:17663472|PMID:18337304|PMID:19629567|PMID:19928689|PMID:20461396|PMID:22433810|PMID:25614874|PMID:25720167|PMID:25741868|PMID:26234237|PMID:26310628|PMID:26467025|PMID:28492532|PMID:29465609|PMID:29687021|PMID:31211173|PMID:31827005|PMID:33179255|PMID:8664899|PMID:8816708|PMID:9187667|PMID:9452091 8955222 Mpz myelin protein zero gene DOID:0110158 Charcot-Marie-Tooth disease type 2I ISO RGD:737128 D RGD:7240710 20180130 OMIM 8955222 Mpz myelin protein zero gene DOID:0110158 Charcot-Marie-Tooth disease type 2I ISO RGD:737128 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2I PMID:10071056|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11545686|PMID:11935267|PMID:12207153|PMID:12242557|PMID:12402337|PMID:12805115|PMID:12845552|PMID:12911457|PMID:12948789|PMID:14638973|PMID:14711881|PMID:15004559|PMID:15159512|PMID:15241803|PMID:15249646|PMID:15377707|PMID:16279991|PMID:16543539|PMID:16775239|PMID:16987171|PMID:18337304|PMID:19629567|PMID:19928689|PMID:20385006|PMID:20461396|PMID:20556410|PMID:21149811|PMID:22433810|PMID:24053775|PMID:24444136|PMID:25326637|PMID:25429913|PMID:25614874|PMID:25720167|PMID:25741868|PMID:26234237|PMID:26310628|PMID:26467025|PMID:27639257|PMID:28286897|PMID:28492532|PMID:29687021|PMID:31211173|PMID:31827005|PMID:31902012|PMID:33179255|PMID:34008892|PMID:3467805|PMID:7505151|PMID:7506095|PMID:8664899|PMID:8816708|PMID:9187667|PMID:9452091|PMID:9595994|PMID:9633821 8955222 Mpz myelin protein zero gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:737128 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital PMID:10737979|PMID:11545686|PMID:12805115|PMID:12807974|PMID:12845552|PMID:12953275|PMID:15094849|PMID:15241803|PMID:17468193|PMID:19454582|PMID:20456450|PMID:23342407|PMID:24033266|PMID:25741868|PMID:26310628|PMID:26467025|PMID:28492532|PMID:29687021|PMID:33179255|PMID:7527371|PMID:8664899|PMID:9187667 8955222 Mpz myelin protein zero gene DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D ISO RGD:737128 D RGD:7240710 20180130 OMIM 8955222 Mpz myelin protein zero gene DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D ISO RGD:737128 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate d PMID:10071056|PMID:10329755|PMID:10406984|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11545686|PMID:11673479|PMID:11835375|PMID:12207153|PMID:12402337|PMID:12805115|PMID:12845552|PMID:12911457|PMID:12948789|PMID:12953275|PMID:14711881|PMID:15004559|PMID:15094849|PMID:15159512|PMID:15241803|PMID:15377707|PMID:15642860|PMID:16279991|PMID:16543539|PMID:16775239|PMID:16987171|PMID:18337304|PMID:19629567|PMID:19691535|PMID:19928689|PMID:20456450|PMID:20461396|PMID:20800346|PMID:24028194|PMID:25429913|PMID:25614874|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26310628|PMID:26392352|PMID:26406915|PMID:26467025|PMID:28492532|PMID:29687021|PMID:31173589|PMID:31211173|PMID:31827005|PMID:32376792|PMID:33179255|PMID:34008892|PMID:7505151|PMID:7527371|PMID:7581451|PMID:8664899|PMID:8816708|PMID:8990016|PMID:9187667|PMID:9452091|PMID:9633821|PMID:9888385 8955222 Mpz myelin protein zero gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:20571287|PMID:25694466|PMID:28492532|PMID:7693129 8955222 Mpz myelin protein zero gene DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 ISO RGD:737128 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 PMID:10071056|PMID:10329755|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:12207153|PMID:12911457|PMID:12948789|PMID:15159512|PMID:15377707|PMID:16279991|PMID:16775239|PMID:18337304|PMID:19629567|PMID:19928689|PMID:20461396|PMID:25720167|PMID:25741868|PMID:26234237|PMID:26467025|PMID:28492532|PMID:29687021|PMID:31211173|PMID:31827005|PMID:9452091 8955222 Mpz myelin protein zero gene DOID:1059 intellectual disability ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15729519|PMID:20461396|PMID:25614874|PMID:25741868|PMID:28492532|PMID:7688964 8955222 Mpz myelin protein zero gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737128 D RGD:7240710 20180130 OMIM 8955222 Mpz myelin protein zero gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737128 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10071056|PMID:10093067|PMID:10214757|PMID:10329755|PMID:10399750|PMID:10406984|PMID:10463363|PMID:10475757|PMID:10533074|PMID:10545037|PMID:10553995|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10885340|PMID:10923043|PMID:10965800|PMID:11080236|PMID:11080237|PMID:11085599|PMID:11160475|PMID:11437164|PMID:11484669|PMID:11545686|PMID:11673479|PMID:11701152|PMID:11801400|PMID:11835375|PMID:11935267|PMID:12090401|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12242557|PMID:12402337|PMID:12477701|PMID:12497641|PMID:12707985|PMID:12805115|PMID:12807974|PMID:12845552|PMID:12911457|PMID:12940837|PMID:12948789|PMID:12953275|PMID:14638973|PMID:14711881|PMID:14742601|PMID:14871447|PMID:15004559|PMID:15036333|PMID:15050444|PMID:15094849|PMID:15159512|PMID:15170620|PMID:15241803|PMID:15261887|PMID:15377707|PMID:15642860|PMID:15716547|PMID:15729519|PMID:16198109|PMID:16199547|PMID:16279991|PMID:16488608|PMID:16495463|PMID:16521307|PMID:16543539|PMID:16616845|PMID:16616847|PMID:16775239|PMID:16987171|PMID:17030746|PMID:17143884|PMID:17294201|PMID:17297707|PMID:17468193|PMID:17576681|PMID:17663472|PMID:17915947|PMID:17940173|PMID:18209201|PMID:18255032|PMID:18337304|PMID:18347322|PMID:18380018|PMID:18380021|PMID:18380030|PMID:18422810|PMID:18636082|PMID:18663734|PMID:19259128|PMID:19293842|PMID:19454582|PMID:19475438|PMID:19629567|PMID:19691535|PMID:19882637|PMID:19918771|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20385006|PMID:20456450|PMID:20461396|PMID:20516806|PMID:20544920|PMID:20556410|PMID:20571287|PMID:20621479|PMID:20800346|PMID:20937820|PMID:21107784|PMID:21149811|PMID:21256749|PMID:21326314|PMID:21503568|PMID:21840889|PMID:21940171|PMID:22018721|PMID:22176150|PMID:22222859|PMID:22433810|PMID:22451207|PMID:22622165|PMID:22704856|PMID:22734905|PMID:23197742|PMID:23279346|PMID:23290023|PMID:23342407|PMID:23649551|PMID:23806086|PMID:24028194|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24444136|PMID:24819634|PMID:25025039|PMID:25388615|PMID:25429913|PMID:25430934|PMID:25614874|PMID:25694466|PMID:25720167|PMID:25741868|PMID:26135405|PMID:26234237|PMID:26257172|PMID:26310628|PMID:26392352|PMID:26406915|PMID:26454100|PMID:26467025|PMID:27088055|PMID:27527004|PMID:27614573|PMID:27639257|PMID:28286897|PMID:28492532|PMID:29136549|PMID:29465609|PMID:29687021|PMID:30677751|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31278453|PMID:31372974|PMID:31827005|PMID:31902012|PMID:31919945|PMID:32376792|PMID:33179255|PMID:33825325|PMID:34008892|PMID:7504284|PMID:7505151|PMID:7506095|PMID:7511317|PMID:7527371|PMID:7530774|PMID:7550231|PMID:7581451|PMID:7688964|PMID:7693129|PMID:7693130|PMID:7694726|PMID:8644725|PMID:8664899|PMID:8797476|PMID:8800924|PMID:8816708|PMID:8835320|PMID:8844219|PMID:8990016|PMID:9187667|PMID:9217235|PMID:9452091|PMID:9452099|PMID:9536098|PMID:9595994|PMID:9633821|PMID:9888385 8955222 Mpz myelin protein zero gene DOID:11446 sciatic neuropathy treatment ISO RGD:3109 D RGD:9068941 20200609 RGD PMID:23545781|REF_RGD_ID:9685778 8955222 Mpz myelin protein zero gene DOID:11720 distal myopathy ISO RGD:737128 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 8955222 Mpz myelin protein zero gene DOID:1540 parathyroid carcinoma ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8955222 Mpz myelin protein zero gene DOID:231 motor neuron disease ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:25741868 8955222 Mpz myelin protein zero gene DOID:2477 motor peripheral neuropathy ISO RGD:737128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8955222 Mpz myelin protein zero gene DOID:2491 sensory peripheral neuropathy ISO RGD:737128 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 8955222 Mpz myelin protein zero gene DOID:574 peripheral nervous system disease ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11545686|PMID:11835375|PMID:12402337|PMID:25741868|PMID:26310628|PMID:28492532|PMID:7505151|PMID:9633821 8955222 Mpz myelin protein zero gene DOID:630 genetic disease ISO RGD:737128 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10071056|PMID:10084540|PMID:10329755|PMID:10545037|PMID:10581375|PMID:10737979|PMID:10764043|PMID:10835936|PMID:10923043|PMID:11080237|PMID:11437164|PMID:11445635|PMID:11545686|PMID:11673479|PMID:12207153|PMID:12207932|PMID:12221176|PMID:12402337|PMID:12477701|PMID:12911457|PMID:12948789|PMID:14638973|PMID:14711881|PMID:14871447|PMID:15004559|PMID:15050444|PMID:15159512|PMID:15170620|PMID:15249646|PMID:15377707|PMID:15642860|PMID:15729519|PMID:16199547|PMID:16252242|PMID:16279991|PMID:16488608|PMID:16775239|PMID:16844954|PMID:17297707|PMID:17576681|PMID:17602703|PMID:17915947|PMID:18337304|PMID:18380030|PMID:19259128|PMID:19293842|PMID:19629567|PMID:19882637|PMID:19928689|PMID:20215982|PMID:20301384|PMID:20456450|PMID:20461396|PMID:20556410|PMID:21149811|PMID:22222859|PMID:22704856|PMID:25448007|PMID:25614874|PMID:25720167|PMID:25741868|PMID:25954003|PMID:26135405|PMID:26234237|PMID:26310628|PMID:26392352|PMID:26467025|PMID:27088055|PMID:27614573|PMID:27618451|PMID:27639257|PMID:28286897|PMID:28490743|PMID:28492532|PMID:29136549|PMID:29687021|PMID:30920665|PMID:31173589|PMID:31211173|PMID:31372974|PMID:31827005|PMID:31902012|PMID:32376792|PMID:33179255|PMID:33825325|PMID:34060176|PMID:38272032|PMID:7527371|PMID:7530295|PMID:7688964|PMID:8644725|PMID:8723697|PMID:8797476|PMID:8816708|PMID:9217235|PMID:9452091|PMID:9536098|PMID:9595994|PMID:9888385 8955222 Mpz myelin protein zero gene DOID:870 neuropathy ISO RGD:737128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:11545686|PMID:11835375|PMID:12402337|PMID:25741868|PMID:26310628|PMID:28492532|PMID:7505151|PMID:9633821 8955222 Mpz myelin protein zero gene DOID:9000495 Tremor ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:25741868 8955222 Mpz myelin protein zero gene DOID:9002211 Hyperalgesia ISO RGD:737128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16676325 8955222 Mpz myelin protein zero gene DOID:9002955 Nerve Degeneration ISO RGD:737128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16676325 8955222 Mpz myelin protein zero gene DOID:9003626 Paragangliomas 3 ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 8955222 Mpz myelin protein zero gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 8955222 Mpz myelin protein zero gene DOID:9004832 Congenital Hypomyelinating Neuropathy 2 ISO RGD:737128 D RGD:7240710 20190315 OMIM 8955222 Mpz myelin protein zero gene DOID:9004832 Congenital Hypomyelinating Neuropathy 2 ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 2 PMID:10319895|PMID:10737979|PMID:11545686|PMID:12953275|PMID:15094849|PMID:15184631|PMID:15241803|PMID:15642860|PMID:20456450|PMID:25614874|PMID:25741868|PMID:26135405|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32376792|PMID:7527371|PMID:8664899|PMID:8816708|PMID:9187667|PMID:9888385 8955222 Mpz myelin protein zero gene DOID:9005417 Charcot-Marie-Tooth Disease, Dominant Intermediate 3 ISO RGD:737128 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 3 PMID:10737979|PMID:11545686|PMID:12805115|PMID:12845552|PMID:12953275|PMID:14711881|PMID:15004559|PMID:15094849|PMID:15241803|PMID:15642860|PMID:20456450|PMID:25614874|PMID:25741868|PMID:26135405|PMID:26310628|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29687021|PMID:32376792|PMID:33179255|PMID:7527371|PMID:8664899|PMID:8816708|PMID:9187667|PMID:9888385 8955222 Mpz myelin protein zero gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:737128 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:12807974|PMID:17468193|PMID:23342407|PMID:25741868|PMID:28492532 8955222 Mpz myelin protein zero gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737128 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 8955222 Mpz myelin protein zero gene DOID:9008305 Talipes Cavus ISO RGD:737128 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 8955222 Mpz myelin protein zero gene DOID:913 atrophic muscular disease ISO RGD:737128 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Distal lower limb amyotrophy PMID:10545037|PMID:10581375|PMID:10737979|PMID:11437164|PMID:12221176|PMID:12477701|PMID:20215982|PMID:20461396|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29136549|PMID:29687021|PMID:31211173|PMID:31372974|PMID:7688964|PMID:8644725|PMID:8797476 8955222 Mpz myelin protein zero gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:12807974|PMID:17468193|PMID:19454582|PMID:23342407|PMID:24033266|PMID:25741868|PMID:28492532 8955222 Mpz myelin protein zero gene DOID:9277 primary cerebellar degeneration ISO RGD:737128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:25741868 8955222 Mpz myelin protein zero gene DOID:9743 diabetic neuropathy treatment ISO RGD:3109 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22158827|REF_RGD_ID:9685782 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:0111681 glutamate-cysteine ligase deficiency ISO RGD:736793 D RGD:7240710 20240313 OMIM 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:0111681 glutamate-cysteine ligase deficiency ISO RGD:736793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency PMID:10515893|PMID:25741868|PMID:28492532 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:10629 microphthalmia ISO RGD:736793 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:35123994 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:10763 hypertension ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:1485 cystic fibrosis ISO RGD:736793 D RGD:9068941 20200609 RGD PMID:16690975|REF_RGD_ID:5134682 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:2773 contact dermatitis ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15496427 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:5082 liver cirrhosis ISO RGD:619868 D RGD:9068941 20200609 RGD PMID:22942279|REF_RGD_ID:11049542 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:583 hemolytic anemia ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10515893 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:583 hemolytic anemia ISO RGD:736793 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: 473C>T (p.158L)(human) PMID:10733484|REF_RGD_ID:11049537 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:5844 myocardial infarction ISO RGD:736793 D RGD:7240710 20240313 OMIM 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:5844 myocardial infarction ISO RGD:736793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:12598062 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:630 genetic disease ISO RGD:736793 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:83 cataract ISO RGD:10652 D RGD:9068941 20220825 MouseDO OMIM:601371 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:9000018 Coronary Vessel Anomalies ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12598062 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:9005172 Lung Neoplasms ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:9007102 Myocardial Ischemia ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619868 D RGD:9068941 20200609 RGD PMID:17573345|REF_RGD_ID:10402383 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19481141 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30940545 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:9008691 Liver Injury treatment ISO RGD:619868 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:24944771|REF_RGD_ID:10402380 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:9008945 Gram-Negative Bacterial Infections susceptibility ISO RGD:736793 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNP,haplotype:promoter:-129C >T,-3506A >G (human) PMID:24593045|REF_RGD_ID:10401929 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:9252 amino acid metabolic disorder ISO RGD:736793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10515893 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:736793 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:8705999|REF_RGD_ID:11049536 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:9352 type 2 diabetes mellitus ISO RGD:736793 D RGD:9068941 20200910 CTD CTD Direct Evidence: therapeutic PMID:32715377 8955236 Gclc glutamate-cysteine ligase catalytic subunit gene DOID:9675 pulmonary emphysema ISO RGD:619868 D RGD:9068941 20200609 RGD PMID:19879314|REF_RGD_ID:5134681 8955257 Dolk dolichol kinase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8955257 Dolk dolichol kinase gene DOID:0080565 congenital disorder of glycosylation Im ISO RGD:1321943 D RGD:7240710 20190315 OMIM 8955257 Dolk dolichol kinase gene DOID:0080565 congenital disorder of glycosylation Im ISO RGD:1321943 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CDG Im | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M | ClinVar Annotator: match by term: DOLICHOL KINASE DEFICIENCY | ClinVar Annotator: match by term: DOLK-congenital disorder of glycosylation PMID:17273964|PMID:22242004|PMID:23806237|PMID:23890587|PMID:24033266|PMID:24144945|PMID:25188385|PMID:25741868|PMID:25819062|PMID:26257771|PMID:26633542|PMID:27212206|PMID:28074886|PMID:28492532|PMID:28816422|PMID:28818208|PMID:28820871|PMID:30653653|PMID:30665423|PMID:30775854|PMID:31983221|PMID:32250540|PMID:34956305|PMID:35279850 8955257 Dolk dolichol kinase gene DOID:12930 dilated cardiomyopathy ISO RGD:1321943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 8955257 Dolk dolichol kinase gene DOID:5212 congenital disorder of glycosylation ISO RGD:1321943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 8955257 Dolk dolichol kinase gene DOID:630 genetic disease ISO RGD:1321943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8955262 Timm13 translocase of inner mitochondrial membrane 13 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1352849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8955262 Timm13 translocase of inner mitochondrial membrane 13 gene DOID:630 genetic disease ISO RGD:1352849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955262 Timm13 translocase of inner mitochondrial membrane 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8955270 Gnl1 G protein nucleolar 1 (putative) gene DOID:11372 megacolon ISO RGD:1352530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8955270 Gnl1 G protein nucleolar 1 (putative) gene DOID:630 genetic disease ISO RGD:1352530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955285 Nadsyn1 NAD synthetase 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1602697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 8955285 Nadsyn1 NAD synthetase 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1602697 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8955285 Nadsyn1 NAD synthetase 1 gene DOID:1059 intellectual disability ISO RGD:1602697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8955285 Nadsyn1 NAD synthetase 1 gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:1602697 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:23042628|PMID:24813812|PMID:25040602|PMID:25741868|PMID:28250423|PMID:28492532|PMID:31130284|PMID:34168679 8955285 Nadsyn1 NAD synthetase 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:1602697 D RGD:9068941 20200609 RGD PMID:22740028|REF_RGD_ID:13703114 8955285 Nadsyn1 NAD synthetase 1 gene DOID:630 genetic disease ISO RGD:1602697 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23042628|PMID:24813812|PMID:25040602|PMID:25741868|PMID:28250423|PMID:28492532|PMID:31130284|PMID:34168679 8955285 Nadsyn1 NAD synthetase 1 gene DOID:9003370 Dyslipidemias susceptibility ISO RGD:1602697 D RGD:9068941 20200609 RGD DNA:SNP: :rs12785878 G>T(human) PMID:24073860|REF_RGD_ID:13703112 8955285 Nadsyn1 NAD synthetase 1 gene DOID:9005044 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 ISO RGD:1602697 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1 PMID:31883644|PMID:34681008|PMID:35491967 8955285 Nadsyn1 NAD synthetase 1 gene DOID:9006359 Vitamin D Deficiency susceptibility ISO RGD:1602697 D RGD:9068941 20200609 RGD DNA:SNP: :rs10898191(human) PMID:22785457|REF_RGD_ID:11251488 8955285 Nadsyn1 NAD synthetase 1 gene DOID:9008333 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 ISO RGD:1602697 D RGD:7240710 20200513 OMIM 8955285 Nadsyn1 NAD synthetase 1 gene DOID:9008333 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 ISO RGD:1602697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CONGENITAL NAD DEFICIENCY DISORDER 3 | ClinVar Annotator: match by term: NADSYN1-related condition | ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 3 PMID:12547821|PMID:12771147|PMID:25741868|PMID:28492532|PMID:31883644 8955285 Nadsyn1 NAD synthetase 1 gene DOID:9008333 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 ISO RGD:1602697 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CONGENITAL NAD DEFICIENCY DISORDER 3 | ClinVar Annotator: match by term: NADSYN1-related condition | ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 3 PMID:12547821|PMID:12771147|PMID:25741868|PMID:28492532|PMID:31883644|PMID:38357931 8955311 Dnajc10 DnaJ heat shock protein family (Hsp40) member C10 gene DOID:14566 disease of cellular proliferation ISO RGD:1317224 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17353921 8955311 Dnajc10 DnaJ heat shock protein family (Hsp40) member C10 gene DOID:630 genetic disease ISO RGD:1317224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955311 Dnajc10 DnaJ heat shock protein family (Hsp40) member C10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317224 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8955348 Cadm4 cell adhesion molecule 4 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1312331 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8955348 Cadm4 cell adhesion molecule 4 gene DOID:5419 schizophrenia ISO RGD:1312331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8955348 Cadm4 cell adhesion molecule 4 gene DOID:630 genetic disease ISO RGD:1312331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955362 Dscc1 DNA replication and sister chromatid cohesion 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1604296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8955362 Dscc1 DNA replication and sister chromatid cohesion 1 gene DOID:630 genetic disease ISO RGD:1604296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955375 Pip4k2b phosphatidylinositol-5-phosphate 4-kinase type 2 beta gene DOID:630 genetic disease ISO RGD:736672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955397 Rin2 Ras and Rab interactor 2 gene DOID:630 genetic disease ISO RGD:1314166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8955397 Rin2 Ras and Rab interactor 2 gene DOID:9001912 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis ISO RGD:1314166 D RGD:7240710 20180130 OMIM 8955397 Rin2 Ras and Rab interactor 2 gene DOID:9001912 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis ISO RGD:1314166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS PMID:19631308|PMID:20424861|PMID:20954239|PMID:24449201|PMID:25741868|PMID:27277385|PMID:28492532|PMID:30769224 8955422 Polh DNA polymerase eta gene DOID:0050427 xeroderma pigmentosum ISO RGD:1320482 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10398605|PMID:10871396|PMID:11121129|PMID:11773631|PMID:17344931|PMID:18368133|PMID:18703314|PMID:24033266|PMID:24130121|PMID:25256075|PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 8955422 Polh DNA polymerase eta gene DOID:0050444 infantile Refsum disease ISO RGD:1320482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8955422 Polh DNA polymerase eta gene DOID:0050671 female breast cancer susceptibility ISO RGD:1320482 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 8955422 Polh DNA polymerase eta gene DOID:0110847 xeroderma pigmentosum variant type ISO RGD:1320482 D RGD:7240710 20180130 OMIM 8955422 Polh DNA polymerase eta gene DOID:0110847 xeroderma pigmentosum variant type ISO RGD:1320482 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum variant type PMID:10385124|PMID:10398605|PMID:10871396|PMID:11121129|PMID:11773631|PMID:16199547|PMID:17344931|PMID:17576681|PMID:18368133|PMID:18703314|PMID:20577208|PMID:24033266|PMID:24130121|PMID:25256075|PMID:25741868|PMID:26884178|PMID:27004399|PMID:27664908|PMID:28202063|PMID:28492532|PMID:28688171|PMID:30414346|PMID:32239545|PMID:33558524|PMID:35111200|PMID:36308448|PMID:38212351|PMID:9536098 8955422 Polh DNA polymerase eta gene DOID:1612 breast cancer ISO RGD:1320482 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524 8955422 Polh DNA polymerase eta gene DOID:630 genetic disease ISO RGD:1320482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8955422 Polh DNA polymerase eta gene DOID:905 Zellweger syndrome ISO RGD:1320482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8955455 Mcrip2 MAPK regulated corepressor interacting protein 2 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1346193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8955455 Mcrip2 MAPK regulated corepressor interacting protein 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346193 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8955455 Mcrip2 MAPK regulated corepressor interacting protein 2 gene DOID:1826 epilepsy ISO RGD:1346193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8955455 Mcrip2 MAPK regulated corepressor interacting protein 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8955455 Mcrip2 MAPK regulated corepressor interacting protein 2 gene DOID:630 genetic disease ISO RGD:1346193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955464 Npm1 nucleophosmin 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:735682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia PMID:15659725|PMID:20026798|PMID:32581362 8955464 Npm1 nucleophosmin 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14508522|PMID:26285909 8955464 Npm1 nucleophosmin 1 gene DOID:0070004 myeloid neoplasm ISO RGD:11000 D RGD:9068941 20200609 RGD DNA:insertion mutation:cds:c.854_857dupTCTG(mouse) PMID:23226219|REF_RGD_ID:11534989 8955464 Npm1 nucleophosmin 1 gene DOID:10325 silicosis ISO RGD:735682 D RGD:9068941 20231005 CTD CTD Direct Evidence: therapeutic PMID:37399107 8955464 Npm1 nucleophosmin 1 gene DOID:10908 hydrocephalus ISO RGD:735682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 8955464 Npm1 nucleophosmin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11000 D RGD:9068941 20200609 RGD protein:increased expression:cardiomyocyte: PMID:21444791|REF_RGD_ID:11535018 8955464 Npm1 nucleophosmin 1 gene DOID:2729 dyskeratosis congenita ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31570891 8955464 Npm1 nucleophosmin 1 gene DOID:3910 lung adenocarcinoma ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8955464 Npm1 nucleophosmin 1 gene DOID:5844 myocardial infarction ISO RGD:11000 D RGD:9068941 20200609 RGD protein:increased expression:cardiomyocyte: PMID:21444791|REF_RGD_ID:11535018 8955464 Npm1 nucleophosmin 1 gene DOID:630 genetic disease ISO RGD:735682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955464 Npm1 nucleophosmin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10619186 8955464 Npm1 nucleophosmin 1 gene DOID:9000647 Acute Erythroleukemia ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926971 8955464 Npm1 nucleophosmin 1 gene DOID:9006205 Animal Disease Models ISO RGD:735682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8955464 Npm1 nucleophosmin 1 gene DOID:9008691 Liver Injury disease_progression ISO RGD:3192 D RGD:9068941 20200609 RGD protein:increased expression:nucleus,cytoplasm: PMID:14635188|REF_RGD_ID:11534994 8955464 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735682 D RGD:7240710 20180130 OMIM 8955464 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:735682 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:15659725|PMID:19657110|PMID:20026798|PMID:25741868|PMID:28492532|PMID:32581362 8955464 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735682 D RGD:9068941 20200609 RGD PMID:25992555|REF_RGD_ID:11070453 8955464 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735682 D RGD:9068941 20200609 RGD DNA:mutation:exon: PMID:17957027|REF_RGD_ID:11049474 8955464 Npm1 nucleophosmin 1 gene DOID:9119 acute myeloid leukemia onset ISO RGD:11000 D RGD:9068941 20200609 RGD PMID:21441929|REF_RGD_ID:11534990 8955479 Msh4 mutS homolog 4 gene DOID:0070164 spermatogenic failure 2 ISO RGD:1319392 D RGD:7240710 20220706 OMIM 8955479 Msh4 mutS homolog 4 gene DOID:0070164 spermatogenic failure 2 ISO RGD:1319392 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 2 PMID:25741868|PMID:33437391|PMID:33448284|PMID:34755185|PMID:35090489 8955479 Msh4 mutS homolog 4 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1319392 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:33448284|PMID:34755185 8955479 Msh4 mutS homolog 4 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1319392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 8955479 Msh4 mutS homolog 4 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1319392 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:35090489 8955479 Msh4 mutS homolog 4 gene DOID:14228 oligospermia ISO RGD:1319392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligospermia PMID:25741868|PMID:33448284 8955479 Msh4 mutS homolog 4 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:33448284 8955479 Msh4 mutS homolog 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8955479 Msh4 mutS homolog 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319392 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:35090489 8955479 Msh4 mutS homolog 4 gene DOID:630 genetic disease ISO RGD:1319392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955479 Msh4 mutS homolog 4 gene DOID:9002716 Primary Ovarian Insufficiency 20 ISO RGD:1319392 D RGD:7240710 20220720 OMIM 8955479 Msh4 mutS homolog 4 gene DOID:9002716 Primary Ovarian Insufficiency 20 ISO RGD:1319392 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 20 PMID:25741868|PMID:28541421|PMID:33448284|PMID:34755185 8955503 Ccdc27 coiled-coil domain containing 27 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8955503 Ccdc27 coiled-coil domain containing 27 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8955503 Ccdc27 coiled-coil domain containing 27 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8955503 Ccdc27 coiled-coil domain containing 27 gene DOID:0111934 immunodeficiency 38 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8955503 Ccdc27 coiled-coil domain containing 27 gene DOID:0111935 immunodeficiency 16 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8955503 Ccdc27 coiled-coil domain containing 27 gene DOID:630 genetic disease ISO RGD:1602432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955503 Ccdc27 coiled-coil domain containing 27 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8955503 Ccdc27 coiled-coil domain containing 27 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1602432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8955525 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:734010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8955525 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0111071 congenital bile acid synthesis defect 1 ISO RGD:734010 D RGD:7240710 20180130 OMIM 8955525 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0111071 congenital bile acid synthesis defect 1 ISO RGD:734010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 | ClinVar Annotator: match by term: HSD3B7-related condition PMID:11067870|PMID:12679481|PMID:25741868|PMID:26712441|PMID:28492532|PMID:3470305 8955525 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:734010 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:25362483|PMID:25741868|PMID:26818399|PMID:28492532|PMID:31273778 8955525 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:13580 cholestasis ISO RGD:734010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 8955525 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:1852 intrahepatic cholestasis ISO RGD:734010 D RGD:9068941 20200609 RGD CBAS1, OMIM:607765 PMID:12679481|REF_RGD_ID:1599971 8955525 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:630 genetic disease ISO RGD:734010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8955525 Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 gene DOID:9002865 Neonatal Hemochromatosis ISO RGD:734010 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Neonatal hemochromatosis PMID:25741868 8955539 Tmem121b transmembrane protein 121B gene DOID:0080600 COVID-19 ISO RGD:1349802 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8955539 Tmem121b transmembrane protein 121B gene DOID:0111996 immunodeficiency 51 ISO RGD:1349802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8955539 Tmem121b transmembrane protein 121B gene DOID:630 genetic disease ISO RGD:1349802 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955539 Tmem121b transmembrane protein 121B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349802 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8955539 Tmem121b transmembrane protein 121B gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1349802 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1347847 D RGD:9068941 20200609 RGD PMID:19065664|REF_RGD_ID:8549498 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:0081312 T-cell non-Hodgkin lymphoma treatment ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:19951958|REF_RGD_ID:8549563 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:12849 autistic disorder ISO RGD:1347847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1347847 D RGD:9068941 20200609 RGD protein:increased expression:myocardium PMID:18362439|REF_RGD_ID:2298568 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:1612 breast cancer treatment ISO RGD:1347847 D RGD:9068941 20200609 RGD PMID:11748276|PMID:17438063|REF_RGD_ID:8549514|REF_RGD_ID:8549557 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:1793 pancreatic cancer treatment ISO RGD:1347847 D RGD:9068941 20200609 RGD PMID:11748276|REF_RGD_ID:8549514 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:2799 bronchiolitis obliterans ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:17182591|REF_RGD_ID:4146242 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:2841 asthma ISO RGD:1347847 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21462799|REF_RGD_ID:8549521 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:2841 asthma ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:17885690|REF_RGD_ID:4892649 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:2841 asthma ISO RGD:732072 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:20383033|REF_RGD_ID:4892646 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:3310 atopic dermatitis ISO RGD:1347847 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21462799|REF_RGD_ID:8549521 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:3310 atopic dermatitis ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:20971924|REF_RGD_ID:8549556 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:4481 allergic rhinitis ISO RGD:1347847 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21462799|REF_RGD_ID:8549521 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:4483 rhinitis ISO RGD:732072 D RGD:9068941 20200609 RGD PMID:17088137|REF_RGD_ID:4159171 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:5419 schizophrenia ISO RGD:1347847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:552 pneumonia ISO RGD:1347847 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, fibroblast PMID:15161635|REF_RGD_ID:4890021 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1347847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:6432 pulmonary hypertension ISO RGD:1347847 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20522789|REF_RGD_ID:4892612 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:9000998 Brain Injuries ISO RGD:1347847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8955547 Il13ra2 interleukin 13 receptor subunit alpha 2 gene DOID:9452 steatotic liver disease ISO RGD:620838 D RGD:9068941 20200609 RGD PMID:18802068|REF_RGD_ID:4145478 8955571 Bora BORA aurora kinase A activator gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1605625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8955571 Bora BORA aurora kinase A activator gene DOID:630 genetic disease ISO RGD:1605625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955590 Ankrd37 ankyrin repeat domain 37 gene DOID:12849 autistic disorder ISO RGD:1604164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8955590 Ankrd37 ankyrin repeat domain 37 gene DOID:12930 dilated cardiomyopathy ISO RGD:1604164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8955590 Ankrd37 ankyrin repeat domain 37 gene DOID:630 genetic disease ISO RGD:1604164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955590 Ankrd37 ankyrin repeat domain 37 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1604164 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 8955590 Ankrd37 ankyrin repeat domain 37 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1604164 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8955621 Msx2 msh homeobox 2 gene DOID:0060285 parietal foramina ISO RGD:735997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranium bifidum occultum PMID:10742103|PMID:10742104|PMID:10767351|PMID:14571277|PMID:16319823|PMID:18786927|PMID:20301307|PMID:22948472|PMID:23918290|PMID:23949913|PMID:24666290|PMID:25741868|PMID:27013732|PMID:27884935|PMID:28492532|PMID:28808027|PMID:7597092|PMID:8106171|PMID:8357019|PMID:8968743|PMID:9256341 8955621 Msx2 msh homeobox 2 gene DOID:10763 hypertension ISO RGD:3116 D RGD:9068941 20200609 RGD PMID:18270471|REF_RGD_ID:5132616 8955621 Msx2 msh homeobox 2 gene DOID:2340 craniosynostosis ISO RGD:735997 D RGD:9068941 20200609 RGD craniosynostosis type 2, OMIM:604757, DNA:point mutation:exon:P148H PMID:8968743|REF_RGD_ID:1600491 8955621 Msx2 msh homeobox 2 gene DOID:630 genetic disease ISO RGD:735997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8955621 Msx2 msh homeobox 2 gene DOID:9002739 Female Urogenital Diseases ISO RGD:735997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16513791 8955621 Msx2 msh homeobox 2 gene DOID:9004512 Craniosynostosis 2 ISO RGD:735997 D RGD:7240710 20180130 OMIM 8955621 Msx2 msh homeobox 2 gene DOID:9004512 Craniosynostosis 2 ISO RGD:735997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis 2 PMID:16319823|PMID:18786927|PMID:20301307|PMID:23918290|PMID:23949913|PMID:25741868|PMID:27013732|PMID:28492532|PMID:28808027|PMID:7597092|PMID:8106171|PMID:8357019|PMID:8968743|PMID:9256341 8955621 Msx2 msh homeobox 2 gene DOID:9004888 Parietal Foramina 1 ISO RGD:735997 D RGD:7240710 20190327 OMIM 8955621 Msx2 msh homeobox 2 gene DOID:9004888 Parietal Foramina 1 ISO RGD:735997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parietal foramina 1 PMID:10742103|PMID:10767351|PMID:16222674|PMID:25741868|PMID:28492532 8955621 Msx2 msh homeobox 2 gene DOID:9005263 Parietal Foramina with Cleidocranial Dysplasia ISO RGD:735997 D RGD:7240710 20180130 OMIM 8955621 Msx2 msh homeobox 2 gene DOID:9005263 Parietal Foramina with Cleidocranial Dysplasia ISO RGD:735997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia PMID:14571277 8955621 Msx2 msh homeobox 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:735997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome 8955621 Msx2 msh homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9147639 8955621 Msx2 msh homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735997 D RGD:9068941 20200609 RGD parietal foramina, OMIM:168500, DNA:point mutation:exon: R172H, DNA:deletions PMID:10742103|REF_RGD_ID:1600492 8955621 Msx2 msh homeobox 2 gene DOID:9008763 Femoral Fractures ISO RGD:3116 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:bone, osteoblast, chondrocyte PMID:16451220|REF_RGD_ID:5132608 8955627 Cdh3 cadherin 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8955627 Cdh3 cadherin 3 gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1353368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532 8955627 Cdh3 cadherin 3 gene DOID:0110698 hypotrichosis 1 ISO RGD:1353368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypotrichosis simplex 8955627 Cdh3 cadherin 3 gene DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy ISO RGD:1353368 D RGD:7240710 20180130 OMIM 8955627 Cdh3 cadherin 3 gene DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy ISO RGD:1353368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypotrichosis with juvenile macular dystrophy | ClinVar Annotator: match by term: Hypotrichosis with juvenile macular dystrophy PMID:10420194|PMID:11544476|PMID:12445216|PMID:14708629|PMID:15805154|PMID:16199547|PMID:17342797|PMID:25741868|PMID:27386845|PMID:28041643|PMID:28492532|PMID:29620724|PMID:30710256|PMID:31696509|PMID:32581362|PMID:34301208 8955627 Cdh3 cadherin 3 gene DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ISO RGD:1353368 D RGD:7240710 20180130 OMIM 8955627 Cdh3 cadherin 3 gene DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome ISO RGD:1353368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome PMID:10420194|PMID:13372143|PMID:14708629|PMID:15805154|PMID:17576681|PMID:25741868|PMID:27386845|PMID:28041643|PMID:28492532|PMID:29620724|PMID:32581362|PMID:9536098 8955627 Cdh3 cadherin 3 gene DOID:10283 prostate cancer ISO RGD:1353368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 8955627 Cdh3 cadherin 3 gene DOID:10584 retinitis pigmentosa ISO RGD:1353368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:26306921|PMID:28492532|PMID:30718709 8955627 Cdh3 cadherin 3 gene DOID:4448 macular degeneration ISO RGD:1353368 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10420194|PMID:14708629|PMID:15805154|PMID:25741868|PMID:27386845|PMID:28041643|PMID:28492532|PMID:29620724|PMID:32581362 8955627 Cdh3 cadherin 3 gene DOID:5119 ovarian cyst ISO RGD:1353368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8955627 Cdh3 cadherin 3 gene DOID:630 genetic disease ISO RGD:1353368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8955627 Cdh3 cadherin 3 gene DOID:8501 fundus dystrophy ISO RGD:1353368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 8955627 Cdh3 cadherin 3 gene DOID:8577 ulcerative colitis ISO RGD:1353368 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19915572 8955627 Cdh3 cadherin 3 gene DOID:9007653 Multiple Abnormalities susceptibility ISO RGD:1353368 D RGD:9068941 20200609 RGD EEM syndrome, OMIM:225280;DNA:deletion, missense mutation:c.829delG, p.N332I PMID:15805154|REF_RGD_ID:1600801 8955652 Glyat glycine-N-acyltransferase gene DOID:1059 intellectual disability ISO RGD:1316190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8955652 Glyat glycine-N-acyltransferase gene DOID:630 genetic disease ISO RGD:1316190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955668 Slc9a5 solute carrier family 9 member A5 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:732088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8955668 Slc9a5 solute carrier family 9 member A5 gene DOID:630 genetic disease ISO RGD:732088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955668 Slc9a5 solute carrier family 9 member A5 gene DOID:783 end stage renal disease resistance ISO RGD:732088 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:10642288|REF_RGD_ID:1643221 8955703 Fgf12 fibroblast growth factor 12 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1348702 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:25741868|PMID:27164707|PMID:27830185|PMID:27872899|PMID:28492532|PMID:28506426|PMID:28554332|PMID:29652076|PMID:29699863 8955703 Fgf12 fibroblast growth factor 12 gene DOID:0080425 developmental and epileptic encephalopathy 47 ISO RGD:1348702 D RGD:7240710 20190315 OMIM 8955703 Fgf12 fibroblast growth factor 12 gene DOID:0080425 developmental and epileptic encephalopathy 47 ISO RGD:1348702 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 47 | ClinVar Annotator: match by term: FGF12-related condition PMID:17576681|PMID:25741868|PMID:27164707|PMID:27830185|PMID:27872899|PMID:28492532|PMID:28506426|PMID:28554332|PMID:29652076|PMID:29699863|PMID:31292943|PMID:32645220|PMID:34020858|PMID:9536098 8955703 Fgf12 fibroblast growth factor 12 gene DOID:1826 epilepsy ISO RGD:1348702 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27164707|PMID:27830185|PMID:27872899|PMID:28492532|PMID:28506426|PMID:28554332|PMID:29652076|PMID:29699863 8955703 Fgf12 fibroblast growth factor 12 gene DOID:5419 schizophrenia ISO RGD:1348702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8955703 Fgf12 fibroblast growth factor 12 gene DOID:630 genetic disease ISO RGD:1348702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8955703 Fgf12 fibroblast growth factor 12 gene DOID:9005369 Hepatomegaly ISO RGD:1348702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8955719 Cabp5 calcium binding protein 5 gene DOID:630 genetic disease ISO RGD:1317691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955744 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8955744 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1604948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 8955744 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604948 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8955744 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8955744 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8955744 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8955744 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1604948 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955744 Gatd1 glutamine amidotransferase class 1 domain containing 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1604948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8955756 Grm3 glutamate metabotropic receptor 3 gene DOID:1826 epilepsy ISO RGD:732815 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 8955756 Grm3 glutamate metabotropic receptor 3 gene DOID:1909 melanoma ISO RGD:732815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21946352|PMID:22842228 8955756 Grm3 glutamate metabotropic receptor 3 gene DOID:3328 temporal lobe epilepsy ISO RGD:732815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18804094 8955756 Grm3 glutamate metabotropic receptor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8955756 Grm3 glutamate metabotropic receptor 3 gene DOID:5419 schizophrenia ISO RGD:732815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18256595 8955756 Grm3 glutamate metabotropic receptor 3 gene DOID:630 genetic disease ISO RGD:732815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955768 Bmx BMX non-receptor tyrosine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8955768 Bmx BMX non-receptor tyrosine kinase gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1605440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 8955768 Bmx BMX non-receptor tyrosine kinase gene DOID:12849 autistic disorder ISO RGD:1605440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8955768 Bmx BMX non-receptor tyrosine kinase gene DOID:13636 Fanconi anemia ISO RGD:1605440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8955768 Bmx BMX non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1605440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955768 Bmx BMX non-receptor tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8955793 Dlx2 distal-less homeobox 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1312529 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8955793 Dlx2 distal-less homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1312529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728693 8955793 Dlx2 distal-less homeobox 2 gene DOID:630 genetic disease ISO RGD:1312529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955793 Dlx2 distal-less homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1312529 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9187081 8955800 Foxo6 forkhead box O6 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:2292467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8955807 Ccdc14 coiled-coil domain containing 14 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1348740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8955807 Ccdc14 coiled-coil domain containing 14 gene DOID:630 genetic disease ISO RGD:1348740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955807 Ccdc14 coiled-coil domain containing 14 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1348740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 8955807 Ccdc14 coiled-coil domain containing 14 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1348740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8955807 Ccdc14 coiled-coil domain containing 14 gene DOID:9270 alkaptonuria ISO RGD:1348740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8955828 Fam221a family with sequence similarity 221 member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8955828 Fam221a family with sequence similarity 221 member A gene DOID:630 genetic disease ISO RGD:1604475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955860 Acss2 acyl-CoA synthetase short chain family member 2 gene DOID:0050567 orofacial cleft ISO RGD:1313544 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.V496A (rs59088485) (human) PMID:27229527|PMID:28543373|REF_RGD_ID:13831307|REF_RGD_ID:13831309 8955860 Acss2 acyl-CoA synthetase short chain family member 2 gene DOID:11981 morbid obesity treatment ISO RGD:1313544 D RGD:9068941 20200609 RGD PMID:22384010|REF_RGD_ID:13831306 8955860 Acss2 acyl-CoA synthetase short chain family member 2 gene DOID:2843 long QT syndrome ISO RGD:1313544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8955860 Acss2 acyl-CoA synthetase short chain family member 2 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1313544 D RGD:9068941 20220630 RGD protein:increased expression:lung (human) PMID:29885404|REF_RGD_ID:152995523 8955860 Acss2 acyl-CoA synthetase short chain family member 2 gene DOID:630 genetic disease ISO RGD:1313544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955860 Acss2 acyl-CoA synthetase short chain family member 2 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1313544 D RGD:9068941 20200609 RGD PMID:27539851|REF_RGD_ID:13831304 8955860 Acss2 acyl-CoA synthetase short chain family member 2 gene DOID:9005372 Inflammation ISO RGD:1313544 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease PMID:25533197|REF_RGD_ID:13831308 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1321992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1321992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1321992 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1321992 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1321992 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:3652 Leigh disease ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:630 genetic disease ISO RGD:1321992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:9004966 Complex Cortical Dysplasia with Other Brain Malformations 12 ISO RGD:1321992 D RGD:7240710 20230505 OMIM 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:9004966 Complex Cortical Dysplasia with Other Brain Malformations 12 ISO RGD:1321992 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 12 PMID:25741868|PMID:36283405 8955886 Camsap1 calmodulin regulated spectrin associated protein 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1321992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8955917 Flot1 flotillin 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:736684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8955917 Flot1 flotillin 1 gene DOID:11100 Q fever ISO RGD:736684 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16469060 8955917 Flot1 flotillin 1 gene DOID:11372 megacolon ISO RGD:736684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8955917 Flot1 flotillin 1 gene DOID:630 genetic disease ISO RGD:736684 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955933 Ccdc9b coiled-coil domain containing 9B gene DOID:2717 Bloom syndrome ISO RGD:1602266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8955933 Ccdc9b coiled-coil domain containing 9B gene DOID:9256 colorectal cancer ISO RGD:1602266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8955966 Pprc1 PPARG related coactivator 1 gene DOID:10283 prostate cancer ISO RGD:1320168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8955966 Pprc1 PPARG related coactivator 1 gene DOID:630 genetic disease ISO RGD:1320168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955995 Nup210l nucleoporin 210 like gene DOID:0070048 GAND syndrome ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 8955995 Nup210l nucleoporin 210 like gene DOID:0111940 immunodeficiency 42 ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8955995 Nup210l nucleoporin 210 like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8955995 Nup210l nucleoporin 210 like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8955995 Nup210l nucleoporin 210 like gene DOID:1540 parathyroid carcinoma ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8955995 Nup210l nucleoporin 210 like gene DOID:5812 MHC class II deficiency ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8955995 Nup210l nucleoporin 210 like gene DOID:630 genetic disease ISO RGD:1344758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8955995 Nup210l nucleoporin 210 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:0060041 autism spectrum disorder ISO RGD:1348543 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1348543 D RGD:7240710 20180130 OMIM 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 ISO RGD:1348543 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1 PMID:10766984|PMID:11370633|PMID:1184396|PMID:12508273|PMID:16158441|PMID:20004762|PMID:20503305|PMID:20533528|PMID:20842734|PMID:21744491|PMID:2202212|PMID:22581468|PMID:25188385|PMID:25348902|PMID:25741868|PMID:26373698|PMID:26872206|PMID:26925854|PMID:28238810|PMID:28306225|PMID:28346368|PMID:28492532|PMID:31905796|PMID:32214361|PMID:32629534|PMID:34815299|PMID:35464846|PMID:9084938 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:11836 clubfoot ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20004762 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1348543 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25188385|PMID:25741868|PMID:28492532|PMID:32214361 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:2717 Bloom syndrome ISO RGD:1348543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:630 genetic disease ISO RGD:1348543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:9001553 Spinal Cord Compression exacerbates ISO RGD:1619123 D RGD:9068941 20221118 RGD PMID:26586562|REF_RGD_ID:155663489 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:9004014 Adducted Thumbs Syndrome ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20004762 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:9005077 Joint Instability ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842734 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:9005603 Muscle Hypotonia ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842734 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1348543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842734 8956036 Chst14 carbohydrate sulfotransferase 14 gene DOID:9256 colorectal cancer ISO RGD:1348543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8956055 Snx4 sorting nexin 4 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1320273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8956055 Snx4 sorting nexin 4 gene DOID:630 genetic disease ISO RGD:1320273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956055 Snx4 sorting nexin 4 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1320273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 8956055 Snx4 sorting nexin 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8956055 Snx4 sorting nexin 4 gene DOID:9270 alkaptonuria ISO RGD:1320273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8956076 Ranbp10 RAN binding protein 10 gene DOID:0060401 chromosome 16q22 deletion syndrome ISO RGD:1343804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome PMID:25741868 8956076 Ranbp10 RAN binding protein 10 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1343804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8956076 Ranbp10 RAN binding protein 10 gene DOID:630 genetic disease ISO RGD:1343804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956076 Ranbp10 RAN binding protein 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1343804 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8956076 Ranbp10 RAN binding protein 10 gene DOID:9000918 Disease Progression ISO RGD:1343804 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8956076 Ranbp10 RAN binding protein 10 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1343804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8956094 Jmjd4 jumonji domain containing 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1607006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8956094 Jmjd4 jumonji domain containing 4 gene DOID:630 genetic disease ISO RGD:1607006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956094 Jmjd4 jumonji domain containing 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8956107 Rnps1 RNA binding protein with serine rich domain 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1316766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 8956107 Rnps1 RNA binding protein with serine rich domain 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8956107 Rnps1 RNA binding protein with serine rich domain 1 gene DOID:1826 epilepsy ISO RGD:1316766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8956107 Rnps1 RNA binding protein with serine rich domain 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8956107 Rnps1 RNA binding protein with serine rich domain 1 gene DOID:2871 endometrial carcinoma ISO RGD:1316766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8956107 Rnps1 RNA binding protein with serine rich domain 1 gene DOID:630 genetic disease ISO RGD:1316766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956128 Cbx2 chromobox 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1342823 D RGD:9068941 20200609 RGD PMID:24885002|REF_RGD_ID:9586732 8956128 Cbx2 chromobox 2 gene DOID:0111776 46,XY sex reversal 5 ISO RGD:1342823 D RGD:7240710 20180130 OMIM 8956128 Cbx2 chromobox 2 gene DOID:0111776 46,XY sex reversal 5 ISO RGD:1342823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 5 PMID:19361780|PMID:25741868 8956128 Cbx2 chromobox 2 gene DOID:14447 gonadal dysgenesis no_association ISO RGD:1342823 D RGD:9068941 20200609 RGD PMID:23219007|REF_RGD_ID:9586730 8956128 Cbx2 chromobox 2 gene DOID:1923 disorder of sexual development ISO RGD:1342823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8956128 Cbx2 chromobox 2 gene DOID:630 genetic disease ISO RGD:1342823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8956128 Cbx2 chromobox 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1342823 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 8956128 Cbx2 chromobox 2 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1342823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:0050748 marginal zone lymphoma ISO RGD:1347575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:0050873 follicular lymphoma ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Follicular lymphoma PMID:9989495 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ISO RGD:1347575 D RGD:7240710 20180523 OMIM 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MALT lymphoma PMID:10380920|PMID:10408400|PMID:9989495 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1347575 D RGD:7240710 20180130 OMIM 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:0111939 immunodeficiency 37 ISO RGD:1347575 D RGD:7240710 20180130 OMIM 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:0111939 immunodeficiency 37 ISO RGD:1347575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 37 PMID:17576681|PMID:24033266|PMID:25365219|PMID:25741868|PMID:28492532|PMID:32008135|PMID:9536098 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:1520 colon carcinoma ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:9989495 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:1790 malignant mesothelioma ISO RGD:1347575 D RGD:7240710 20180130 OMIM 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:1790 malignant mesothelioma ISO RGD:1347575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mesothelioma, malignant | ClinVar Annotator: match by term: Mesothelioma, somatic PMID:10380920|PMID:10408400|PMID:25741868|PMID:28492532|PMID:9989495 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:2998 testicular cancer ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of testis PMID:10582682 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia PMID:9989495 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:630 genetic disease ISO RGD:1347575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:8541 Sezary's disease ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sezary syndrome PMID:9989495 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:9003566 Mesothelioma ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesothelioma PMID:10380920|PMID:10408400|PMID:9989495 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1347575 D RGD:7240710 20190315 OMIM 8956138 Bcl10 BCL10 immune signaling adaptor gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1347575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male germ cell tumor, somatic PMID:10380920|PMID:10408400|PMID:9989495 8956145 Kif2a kinesin family member 2A gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:735496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603762 8956145 Kif2a kinesin family member 2A gene DOID:0090134 complex cortical dysplasia with other brain malformations 3 ISO RGD:735496 D RGD:7240710 20180130 OMIM 8956145 Kif2a kinesin family member 2A gene DOID:0090134 complex cortical dysplasia with other brain malformations 3 ISO RGD:735496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 3 PMID:23603762|PMID:25741868|PMID:27747449|PMID:28492532 8956145 Kif2a kinesin family member 2A gene DOID:10907 microcephaly ISO RGD:735496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8956145 Kif2a kinesin family member 2A gene DOID:1826 epilepsy ISO RGD:735496 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8956145 Kif2a kinesin family member 2A gene DOID:630 genetic disease ISO RGD:735496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8956145 Kif2a kinesin family member 2A gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:735496 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum 8956145 Kif2a kinesin family member 2A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8956175 Muc13 mucin 13, cell surface associated gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1350619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8956175 Muc13 mucin 13, cell surface associated gene DOID:326 ischemia ISO RGD:708547 D RGD:9068941 20200609 RGD protein:increased degradation:jejunum PMID:22768227|REF_RGD_ID:7349363 8956175 Muc13 mucin 13, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:1553384 D RGD:9068941 20200609 RGD protein:increased expression:cecum, glycocalyx PMID:21155842|REF_RGD_ID:7364766 8956175 Muc13 mucin 13, cell surface associated gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1350619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 8956175 Muc13 mucin 13, cell surface associated gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1350619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8956175 Muc13 mucin 13, cell surface associated gene DOID:9270 alkaptonuria ISO RGD:1350619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8956187 Hmx2 H6 family homeobox 2 gene DOID:630 genetic disease ISO RGD:1344941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956187 Hmx2 H6 family homeobox 2 gene DOID:9002189 High Myopia ISO RGD:1344941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8956197 Map1lc3b microtubule associated protein 1 light chain 3 beta gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1350223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8956197 Map1lc3b microtubule associated protein 1 light chain 3 beta gene DOID:14780 KBG syndrome ISO RGD:1350223 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8956197 Map1lc3b microtubule associated protein 1 light chain 3 beta gene DOID:630 genetic disease ISO RGD:1350223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956197 Map1lc3b microtubule associated protein 1 light chain 3 beta gene DOID:700 mitochondrial metabolism disease ISO RGD:1350223 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 8956197 Map1lc3b microtubule associated protein 1 light chain 3 beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:1350223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 8956197 Map1lc3b microtubule associated protein 1 light chain 3 beta gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1551009 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 8956197 Map1lc3b microtubule associated protein 1 light chain 3 beta gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1350223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8956197 Map1lc3b microtubule associated protein 1 light chain 3 beta gene DOID:9005587 Starvation ISO RGD:1350223 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26483381 8956197 Map1lc3b microtubule associated protein 1 light chain 3 beta gene DOID:9007102 Myocardial Ischemia ISO RGD:621315 D RGD:9068941 20200609 RGD PMID:12371906|REF_RGD_ID:629541 8956197 Map1lc3b microtubule associated protein 1 light chain 3 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1350223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8956197 Map1lc3b microtubule associated protein 1 light chain 3 beta gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:621315 D RGD:9068941 20200709 RGD PMID:31007149|REF_RGD_ID:34888237 8956205 Ruvbl2 RuvB like AAA ATPase 2 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1315165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 8956205 Ruvbl2 RuvB like AAA ATPase 2 gene DOID:630 genetic disease ISO RGD:1315165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956227 Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8956227 Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:1826 epilepsy ISO RGD:1605347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8956227 Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605347 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8956227 Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1605347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8956227 Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit gene DOID:630 genetic disease ISO RGD:1605347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956245 Lrp2bp LRP2 binding protein gene DOID:12849 autistic disorder ISO RGD:1601755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8956245 Lrp2bp LRP2 binding protein gene DOID:12930 dilated cardiomyopathy ISO RGD:1601755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8956245 Lrp2bp LRP2 binding protein gene DOID:630 genetic disease ISO RGD:1601755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956245 Lrp2bp LRP2 binding protein gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1601755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8956268 Erich6b glutamate rich 6B gene DOID:630 genetic disease ISO RGD:1606127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956289 Exoc1 exocyst complex component 1 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1312667 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 8956289 Exoc1 exocyst complex component 1 gene DOID:630 genetic disease ISO RGD:1312667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956321 Ewsr1 EWS RNA binding protein 1 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1316345 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8956321 Ewsr1 EWS RNA binding protein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8956321 Ewsr1 EWS RNA binding protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1316345 D RGD:7240710 20180130 OMIM 8956321 Ewsr1 EWS RNA binding protein 1 gene DOID:3369 Ewing sarcoma ISO RGD:1316345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ewing sarcoma PMID:25741868|PMID:28492532 8956321 Ewsr1 EWS RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1316345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956321 Ewsr1 EWS RNA binding protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 8956321 Ewsr1 EWS RNA binding protein 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1316345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12162413 8956321 Ewsr1 EWS RNA binding protein 1 gene DOID:9008192 Neoplastic Processes ISO RGD:1316345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 8956321 Ewsr1 EWS RNA binding protein 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8956351 Ssbp3 single stranded DNA binding protein 3 gene DOID:630 genetic disease ISO RGD:731988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956351 Ssbp3 single stranded DNA binding protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8956351 Ssbp3 single stranded DNA binding protein 3 gene DOID:9008582 Developmental Disease ISO RGD:731988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8956377 Slc35a3 solute carrier family 35 member A3 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1318491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 8956377 Slc35a3 solute carrier family 35 member A3 gene DOID:630 genetic disease ISO RGD:1318491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24031089|PMID:25954003|PMID:27618451|PMID:28328131|PMID:28490743|PMID:28492532 8956377 Slc35a3 solute carrier family 35 member A3 gene DOID:9008858 Arthrogryposis, Impaired Intellectual Development, and Seizures ISO RGD:1318491 D RGD:7240710 20180130 OMIM 8956377 Slc35a3 solute carrier family 35 member A3 gene DOID:9008858 Arthrogryposis, Impaired Intellectual Development, and Seizures ISO RGD:1318491 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:24031089|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28328131|PMID:28490743|PMID:28492532|PMID:28777481|PMID:33416188|PMID:9536098 8956377 Slc35a3 solute carrier family 35 member A3 gene DOID:9269 maple syrup urine disease ISO RGD:1318491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8956397 Itgam integrin subunit alpha M gene DOID:0050852 limb ischemia ISO RGD:1343608 D RGD:9068941 20230629 RGD protein:increased expression:monocyte (human) PMID:20816321|REF_RGD_ID:329901827 8956397 Itgam integrin subunit alpha M gene DOID:0060189 ileitis ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10647630 8956397 Itgam integrin subunit alpha M gene DOID:0060224 atrial fibrillation ISO RGD:1343608 D RGD:9068941 20230622 RGD associated with aortic valve stenosis;protein:increased expression:monocyte (human) PMID:26763077|REF_RGD_ID:329901663 8956397 Itgam integrin subunit alpha M gene DOID:0060224 atrial fibrillation treatment ISO RGD:1343608 D RGD:9068941 20230622 RGD PMID:28073885|REF_RGD_ID:329901660 8956397 Itgam integrin subunit alpha M gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16764927 8956397 Itgam integrin subunit alpha M gene DOID:0060903 thrombosis ISO RGD:1343608 D RGD:9068941 20230629 RGD associated with atrial fibrillation;protein:increased expression:monocyte, granulocyte (human) PMID:26411420|REF_RGD_ID:329901838 8956397 Itgam integrin subunit alpha M gene DOID:0080162 lupus nephritis ISO RGD:1343608 D RGD:9068941 20200609 RGD PMID:21719445|REF_RGD_ID:5147916 8956397 Itgam integrin subunit alpha M gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1343608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8956397 Itgam integrin subunit alpha M gene DOID:10591 pre-eclampsia ISO RGD:1343608 D RGD:9068941 20230622 RGD DNA:missense mutations:CDS:p.M441K (rs1143680), p.T1000N (rs41321249) (human) PMID:33539617|REF_RGD_ID:329853770 8956397 Itgam integrin subunit alpha M gene DOID:10591 pre-eclampsia ISO RGD:1343608 D RGD:9068941 20230622 RGD associated with Fetal Growth Retardation;mRNA:decreased expression:placenta (human) PMID:32014817|REF_RGD_ID:329901659 8956397 Itgam integrin subunit alpha M gene DOID:10591 pre-eclampsia ISO RGD:1343608 D RGD:9068941 20230629 RGD protein:increased expression:neutrophil (human) PMID:18437152|REF_RGD_ID:329901825 8956397 Itgam integrin subunit alpha M gene DOID:10952 nephritis ISO RGD:732433 D RGD:9068941 20200609 RGD PMID:21900205|REF_RGD_ID:7207258 8956397 Itgam integrin subunit alpha M gene DOID:1168 familial hyperlipidemia ISO RGD:1343608 D RGD:9068941 20230629 RGD protein:increased expression:monocyte, macrophage (human) PMID:18788855|REF_RGD_ID:329901821 8956397 Itgam integrin subunit alpha M gene DOID:1168 familial hyperlipidemia exacerbates ISO RGD:1343608 D RGD:9068941 20230629 RGD protein:increased expression:granulocyte (human) PMID:17869258|REF_RGD_ID:329901839 8956397 Itgam integrin subunit alpha M gene DOID:11713 diabetic angiopathy ISO RGD:1343608 D RGD:9068941 20230629 RGD protein:increased expression:neutrophil (human) PMID:18496641|REF_RGD_ID:329901826 8956397 Itgam integrin subunit alpha M gene DOID:1227 neutropenia ISO RGD:2926 D RGD:9068941 20230629 RGD associated with Brain Contusion PMID:8835801|REF_RGD_ID:329901911 8956397 Itgam integrin subunit alpha M gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1343608 D RGD:9068941 20230622 RGD DNA:missense mutation:CDS:p.E1071D (human) PMID:32054482|REF_RGD_ID:329853760 8956397 Itgam integrin subunit alpha M gene DOID:13241 Behcet's disease ISO RGD:1343608 D RGD:9068941 20230629 RGD protein:increased expression:neutrophil (human) PMID:21719422|REF_RGD_ID:329901843 8956397 Itgam integrin subunit alpha M gene DOID:1936 atherosclerosis ISO RGD:1343608 D RGD:9068941 20230629 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:24716741|REF_RGD_ID:329901833 8956397 Itgam integrin subunit alpha M gene DOID:1936 atherosclerosis ISO RGD:732433 D RGD:9068941 20230622 RGD protein:increased expression:descending aorta (mouse) PMID:30913515|REF_RGD_ID:329901661 8956397 Itgam integrin subunit alpha M gene DOID:1936 atherosclerosis ameliorates ISO RGD:732433 D RGD:9068941 20230622 RGD associated with Hypercholesterolemia;DNA:missense mutation:CDS:p.I332G (mouse) PMID:32938725|REF_RGD_ID:329853755 8956397 Itgam integrin subunit alpha M gene DOID:2018 hyperinsulinism ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8956397 Itgam integrin subunit alpha M gene DOID:224 transient cerebral ischemia ISO RGD:2926 D RGD:9068941 20230629 RGD mRNA:increased expression:brain (rat) PMID:19563786|REF_RGD_ID:329901933 8956397 Itgam integrin subunit alpha M gene DOID:224 transient cerebral ischemia ISO RGD:732433 D RGD:9068941 20230622 RGD mRNA:increased expression:cerebral cortex (mouse) PMID:30123113|REF_RGD_ID:329853754 8956397 Itgam integrin subunit alpha M gene DOID:224 transient cerebral ischemia treatment ISO RGD:2926 D RGD:9068941 20230629 RGD PMID:22082476|PMID:23844255|PMID:32407868|PMID:8160235|PMID:8581506|PMID:8964796|REF_RGD_ID:329901916|REF_RGD_ID:329901917|REF_RGD_ID:329901921|REF_RGD_ID:329901940|REF_RGD_ID:329902058|REF_RGD_ID:329902067 8956397 Itgam integrin subunit alpha M gene DOID:2316 brain ischemia ISO RGD:2926 D RGD:9068941 20230622 RGD associated with Hypotension;protein:increased expression:pyramidal layer of CA1 (rat) PMID:19019197|REF_RGD_ID:329853772 8956397 Itgam integrin subunit alpha M gene DOID:2921 glomerulonephritis ISO RGD:732433 D RGD:9068941 20200609 RGD PMID:19752320|REF_RGD_ID:6907051 8956397 Itgam integrin subunit alpha M gene DOID:3042 allergic contact dermatitis ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8956397 Itgam integrin subunit alpha M gene DOID:3526 cerebral infarction ISO RGD:1343608 D RGD:9068941 20230629 RGD protein:increased expression:neutrophil (human) PMID:31355307|REF_RGD_ID:329901831 8956397 Itgam integrin subunit alpha M gene DOID:4195 hyperglycemia ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8956397 Itgam integrin subunit alpha M gene DOID:4195 hyperglycemia ISO RGD:1343608 D RGD:9068941 20230622 RGD associated with type 2 diabetes mellitus;protein:increased expression:granulocyte, monocyte (human) PMID:23686079|REF_RGD_ID:329901658 8956397 Itgam integrin subunit alpha M gene DOID:4783 mesangial proliferative glomerulonephritis exacerbates ISO RGD:2926 D RGD:9068941 20230629 RGD PMID:10623679|REF_RGD_ID:329901927 8956397 Itgam integrin subunit alpha M gene DOID:5844 myocardial infarction treatment ISO RGD:732433 D RGD:9068941 20230622 RGD PMID:29933226|REF_RGD_ID:329853753 8956397 Itgam integrin subunit alpha M gene DOID:630 genetic disease ISO RGD:1343608 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8956397 Itgam integrin subunit alpha M gene DOID:7693 abdominal aortic aneurysm ISO RGD:1343608 D RGD:9068941 20230622 RGD protein:increased expression:aorta (human) PMID:33749307|REF_RGD_ID:329853751 8956397 Itgam integrin subunit alpha M gene DOID:7693 abdominal aortic aneurysm ameliorates ISO RGD:732433 D RGD:9068941 20230622 RGD PMID:33749307|REF_RGD_ID:329853751 8956397 Itgam integrin subunit alpha M gene DOID:8283 peritonitis ameliorates ISO RGD:732433 D RGD:9068941 20230622 RGD DNA:missense mutation:CDS:p.I332G (mouse) PMID:32938725|REF_RGD_ID:329853755 8956397 Itgam integrin subunit alpha M gene DOID:8805 intermediate coronary syndrome ameliorates ISO RGD:1343608 D RGD:9068941 20230629 RGD protein:decreased expression:neutrophil (human) PMID:18043994|REF_RGD_ID:329901840 8956397 Itgam integrin subunit alpha M gene DOID:8947 diabetic retinopathy ISO RGD:2926 D RGD:9068941 20230629 RGD mRNA, protein:increased expression:retina (rat) PMID:33614447|REF_RGD_ID:329901937 8956397 Itgam integrin subunit alpha M gene DOID:9000310 Lung Injury treatment ISO RGD:2926 D RGD:9068941 20230629 RGD associated with Skeletal Muscle Reperfusion Injury PMID:8102031|REF_RGD_ID:329901912 8956397 Itgam integrin subunit alpha M gene DOID:9000522 Invasive Candidiasis ISO RGD:732433 D RGD:9068941 20200609 RGD protein: increased expression: kidney PMID:21063074|REF_RGD_ID:7207265 8956397 Itgam integrin subunit alpha M gene DOID:9000528 Coronary Disease exacerbates ISO RGD:1343608 D RGD:9068941 20230629 RGD protein:increased expression:monocyte (human) PMID:20876457|REF_RGD_ID:329901842 8956397 Itgam integrin subunit alpha M gene DOID:9000774 Brain Death ISO RGD:2926 D RGD:9068941 20230629 RGD protein:increased expression:neutrophil (rat) PMID:18347540|REF_RGD_ID:329901924 8956397 Itgam integrin subunit alpha M gene DOID:9000808 Hypercholesterolemia ISO RGD:1343608 D RGD:9068941 20230622 RGD protein:decreased expression:peripheral blood mononuclear cell (human) PMID:18676132|REF_RGD_ID:329853761 8956397 Itgam integrin subunit alpha M gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:2926 D RGD:9068941 20230629 RGD PMID:19457130|REF_RGD_ID:329902059 8956397 Itgam integrin subunit alpha M gene DOID:9002159 Liver Reperfusion Injury exacerbates ISO RGD:2926 D RGD:9068941 20230629 RGD protein:increased expression:neutrophil (rat) PMID:11447039|REF_RGD_ID:329901849 8956397 Itgam integrin subunit alpha M gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2926 D RGD:9068941 20230629 RGD PMID:8387952|REF_RGD_ID:329901847 8956397 Itgam integrin subunit alpha M gene DOID:9002955 Nerve Degeneration ISO RGD:1343608 D RGD:9068941 20201106 CTD CTD Direct Evidence: therapeutic PMID:32375810 8956397 Itgam integrin subunit alpha M gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1343608 D RGD:9068941 20230622 RGD associated with crescentic glomerulonephritis;protein:increased expression:monocyte (human) PMID:18846416|REF_RGD_ID:7241813 8956397 Itgam integrin subunit alpha M gene DOID:9004347 Skeletal Muscle Reperfusion Injury treatment ISO RGD:2926 D RGD:9068941 20230629 RGD PMID:19105227|PMID:26315464|REF_RGD_ID:329901918|REF_RGD_ID:329902055 8956397 Itgam integrin subunit alpha M gene DOID:9004484 Sepsis exacerbates ISO RGD:2926 D RGD:9068941 20230629 RGD protein:increased expression:neutrophil (rat) PMID:9151199|REF_RGD_ID:329902068 8956397 Itgam integrin subunit alpha M gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2926 D RGD:9068941 20230629 RGD PMID:1347308|REF_RGD_ID:329901922 8956397 Itgam integrin subunit alpha M gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2926 D RGD:9068941 20230629 RGD associated with Hemorrhagic Shock PMID:16096539|REF_RGD_ID:329901935 8956397 Itgam integrin subunit alpha M gene DOID:9005125 Lupus Vasculitis, Central Nervous System ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773105 8956397 Itgam integrin subunit alpha M gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2926 D RGD:9068941 20230629 RGD protein:increased expression:neutrophil (rat) PMID:10752954|REF_RGD_ID:329902069 8956397 Itgam integrin subunit alpha M gene DOID:9005968 Neuralgia ISO RGD:2926 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar vertebra PMID:15145554|REF_RGD_ID:1342461 8956397 Itgam integrin subunit alpha M gene DOID:9007096 Stroke treatment ISO RGD:2926 D RGD:9068941 20230629 RGD PMID:12805500|REF_RGD_ID:329901938 8956397 Itgam integrin subunit alpha M gene DOID:9007692 Insulin Resistance ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8956397 Itgam integrin subunit alpha M gene DOID:9007730 Burns treatment ISO RGD:2926 D RGD:9068941 20230629 RGD PMID:7568496|REF_RGD_ID:329901934 8956397 Itgam integrin subunit alpha M gene DOID:9008212 Diabetic Foot ISO RGD:1343608 D RGD:9068941 20230622 RGD protein:increased expression:pes (human) PMID:37087778|REF_RGD_ID:329853756 8956397 Itgam integrin subunit alpha M gene DOID:9074 systemic lupus erythematosus ISO RGD:1343608 D RGD:9068941 20230810 CTD CTD Direct Evidence: marker/mechanism PMID:18204446|PMID:18204448 8956397 Itgam integrin subunit alpha M gene DOID:9352 type 2 diabetes mellitus ISO RGD:2926 D RGD:9068941 20230629 RGD protein:increased expression:neutrophil (rat) PMID:21699626|REF_RGD_ID:329902064 8956397 Itgam integrin subunit alpha M gene DOID:9408 acute myocardial infarction treatment ISO RGD:1343608 D RGD:9068941 20230622 RGD PMID:21238619|REF_RGD_ID:329901664 8956397 Itgam integrin subunit alpha M gene DOID:9970 obesity ISO RGD:1343608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8956397 Itgam integrin subunit alpha M gene DOID:9970 obesity ISO RGD:1343608 D RGD:9068941 20230622 RGD protein:increased expression:monocyte (human) PMID:21446916|REF_RGD_ID:329901665 8956435 Tmem131l transmembrane 131 like gene DOID:630 genetic disease ISO RGD:1604047 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956479 Cdnf cerebral dopamine neurotrophic factor gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1316888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8956479 Cdnf cerebral dopamine neurotrophic factor gene DOID:630 genetic disease ISO RGD:1316888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956498 Nipsnap2 nipsnap homolog 2 gene DOID:12849 autistic disorder ISO RGD:1345241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8956498 Nipsnap2 nipsnap homolog 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8956498 Nipsnap2 nipsnap homolog 2 gene DOID:630 genetic disease ISO RGD:1345241 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956513 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1606763 D RGD:7240710 20180130 OMIM 8956513 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1606763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:16199547|PMID:16951682|PMID:17576681|PMID:17928815|PMID:18022865|PMID:20301737|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:25741868|PMID:28492532|PMID:9536098 8956513 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1606763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8956513 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:303 substance-related disorder ISO RGD:1606763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8956513 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8956513 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606763 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8956513 Hycc1 hyccin PI4KA lipid kinase complex subunit 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606763 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 8956543 Glis1 GLIS family zinc finger 1 gene DOID:630 genetic disease ISO RGD:1343612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956558 Stx3 syntaxin 3 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:732917 D RGD:9068941 20200609 RGD PMID:26216965|REF_RGD_ID:11532386 8956558 Stx3 syntaxin 3 gene DOID:0110139 Bardet-Biedl syndrome 17 ISO RGD:732917 D RGD:9068941 20200609 RGD protein:increased expression:photoreceptor outer segment layer PMID:26216965|REF_RGD_ID:11532386 8956558 Stx3 syntaxin 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8956558 Stx3 syntaxin 3 gene DOID:1059 intellectual disability ISO RGD:735349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8956558 Stx3 syntaxin 3 gene DOID:630 genetic disease ISO RGD:735349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8956558 Stx3 syntaxin 3 gene DOID:9006044 Microvillus Inclusion Disease 2 ISO RGD:735349 D RGD:7240710 20210728 OMIM 8956558 Stx3 syntaxin 3 gene DOID:9006044 Microvillus Inclusion Disease 2 ISO RGD:735349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea 12, with microvillus atrophy PMID:24726755|PMID:28492532|PMID:29282386 8956558 Stx3 syntaxin 3 gene DOID:9008564 Retinal Dystrophy and Microvillus Inclusion Disease ISO RGD:735349 D RGD:7240710 20210728 OMIM 8956558 Stx3 syntaxin 3 gene DOID:9008564 Retinal Dystrophy and Microvillus Inclusion Disease ISO RGD:735349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease 8956577 Plag1 PLAG1 zinc finger gene DOID:1059 intellectual disability ISO RGD:1313225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8956577 Plag1 PLAG1 zinc finger gene DOID:452 pleomorphic adenoma ISO RGD:1313225 D RGD:7240710 20180130 OMIM 8956577 Plag1 PLAG1 zinc finger gene DOID:630 genetic disease ISO RGD:1313225 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8956577 Plag1 PLAG1 zinc finger gene DOID:9002587 Silver-Russell Syndrome 4 ISO RGD:1313225 D RGD:7240710 20200701 OMIM 8956577 Plag1 PLAG1 zinc finger gene DOID:9002587 Silver-Russell Syndrome 4 ISO RGD:1313225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PLAG1-related condition | ClinVar Annotator: match by term: Silver-russell syndrome 4 PMID:25741868|PMID:28796236 8956577 Plag1 PLAG1 zinc finger gene DOID:9006311 Lipoblastoma ISO RGD:1313225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16308870 8956577 Plag1 PLAG1 zinc finger gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1313225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:28796236 8956595 Chad chondroadherin gene DOID:0111565 trichodontoosseous syndrome ISO RGD:734435 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8956595 Chad chondroadherin gene DOID:630 genetic disease ISO RGD:734435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956608 Map7d3 MAP7 domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8956608 Map7d3 MAP7 domain containing 3 gene DOID:0060825 Christianson syndrome ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8956608 Map7d3 MAP7 domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1606231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8956608 Map7d3 MAP7 domain containing 3 gene DOID:630 genetic disease ISO RGD:1606231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956608 Map7d3 MAP7 domain containing 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8956608 Map7d3 MAP7 domain containing 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1606231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8956642 Slc38a11 solute carrier family 38 member 11 gene DOID:1826 epilepsy ISO RGD:1605863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 8956642 Slc38a11 solute carrier family 38 member 11 gene DOID:630 genetic disease ISO RGD:1605863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956659 Lrrc46 leucine rich repeat containing 46 gene DOID:630 genetic disease ISO RGD:1602198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956659 Lrrc46 leucine rich repeat containing 46 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1602198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 8956671 Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase gene DOID:0111590 Cohen syndrome ISO RGD:1317214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8956671 Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase gene DOID:2377 multiple sclerosis ISO RGD:1317214 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8956671 Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:1317214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956688 Mthfs methenyltetrahydrofolate synthetase gene DOID:2717 Bloom syndrome ISO RGD:1315743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8956688 Mthfs methenyltetrahydrofolate synthetase gene DOID:630 genetic disease ISO RGD:1315743 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8956688 Mthfs methenyltetrahydrofolate synthetase gene DOID:674 cleft palate ISO RGD:1315743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 8956688 Mthfs methenyltetrahydrofolate synthetase gene DOID:9000512 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination ISO RGD:1315743 D RGD:7240710 20190424 OMIM 8956688 Mthfs methenyltetrahydrofolate synthetase gene DOID:9000512 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination ISO RGD:1315743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination PMID:25741868|PMID:28492532|PMID:30031689 8956688 Mthfs methenyltetrahydrofolate synthetase gene DOID:9256 colorectal cancer ISO RGD:1315743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8956688 Mthfs methenyltetrahydrofolate synthetase gene DOID:9296 cleft lip ISO RGD:1315743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 8956698 Znf683 zinc finger protein 683 gene DOID:0080600 COVID-19 ISO RGD:1601926 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8956698 Znf683 zinc finger protein 683 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1601926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8956698 Znf683 zinc finger protein 683 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1601926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8956698 Znf683 zinc finger protein 683 gene DOID:630 genetic disease ISO RGD:1601926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956698 Znf683 zinc finger protein 683 gene DOID:9001341 Chloracne ISO RGD:1601926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8956722 Ppil6 peptidylprolyl isomerase like 6 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1352974 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8956722 Ppil6 peptidylprolyl isomerase like 6 gene DOID:630 genetic disease ISO RGD:1352974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956762 Gphn gephyrin gene DOID:0050572 cone-rod dystrophy ISO RGD:69477 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:15258582|PMID:16269441|PMID:20006610|PMID:22065924|PMID:23847139|PMID:24474277|PMID:25741868|PMID:27032803|PMID:28157192|PMID:28492532|PMID:30134391|PMID:32014858|PMID:36909829 8956762 Gphn gephyrin gene DOID:0050817 Stargardt disease ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868 8956762 Gphn gephyrin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69477 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 8956762 Gphn gephyrin gene DOID:0060695 hyperekplexia ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kok disease PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376 8956762 Gphn gephyrin gene DOID:0060696 hyperekplexia 1 ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperekplexia 1 PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376 8956762 Gphn gephyrin gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:69477 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 53 PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20079931|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21232531|PMID:21602930|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25561519|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26868535|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:2855908|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33970760|PMID:34001834|PMID:34448047|PMID:34567070|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:9536098 8956762 Gphn gephyrin gene DOID:0111164 molybdenum cofactor deficiency type A ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A PMID:25741868|PMID:28492532 8956762 Gphn gephyrin gene DOID:0111166 molybdenum cofactor deficiency type C ISO RGD:69477 D RGD:7240710 20180130 OMIM 8956762 Gphn gephyrin gene DOID:0111166 molybdenum cofactor deficiency type C ISO RGD:69477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C PMID:11095995|PMID:12684523|PMID:12754701|PMID:16199547|PMID:17576681|PMID:22040219|PMID:23184456|PMID:23393157|PMID:24561070|PMID:25640679|PMID:25741868|PMID:26613940|PMID:27652284|PMID:28492532|PMID:29948376|PMID:31780880|PMID:33532714|PMID:9536098 8956762 Gphn gephyrin gene DOID:10283 prostate cancer ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8956762 Gphn gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:32014858 8956762 Gphn gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30979730|PMID:31054281|PMID:32014858|PMID:34448047 8956762 Gphn gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047|PMID:36909829 8956762 Gphn gephyrin gene DOID:10584 retinitis pigmentosa ISO RGD:69477 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:34448047|PMID:35006499|PMID:36909829 8956762 Gphn gephyrin gene DOID:1242 globe disease ISO RGD:69477 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Globe disease PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 8956762 Gphn gephyrin gene DOID:13366 Stiff-Person syndrome ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff-person syndrome, congenital PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376 8956762 Gphn gephyrin gene DOID:14791 Leber congenital amaurosis ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30979730|PMID:31054281|PMID:31814694|PMID:32014858|PMID:32865313|PMID:9536098 8956762 Gphn gephyrin gene DOID:14791 Leber congenital amaurosis ISO RGD:69477 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31814694|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36690427|PMID:36909829|PMID:9536098 8956762 Gphn gephyrin gene DOID:1574 alcohol use disorder ISO RGD:69477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 8956762 Gphn gephyrin gene DOID:1826 epilepsy ISO RGD:69477 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 8956762 Gphn gephyrin gene DOID:1969 cerebral palsy ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:33073849 8956762 Gphn gephyrin gene DOID:4448 macular degeneration ISO RGD:69477 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:22065924|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32014858|PMID:32790509|PMID:34001834|PMID:36909829 8956762 Gphn gephyrin gene DOID:5419 schizophrenia ISO RGD:69477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8956762 Gphn gephyrin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8956762 Gphn gephyrin gene DOID:630 genetic disease ISO RGD:69477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12684523|PMID:25741868|PMID:28492532|PMID:33156547|PMID:35445667 8956762 Gphn gephyrin gene DOID:630 genetic disease ISO RGD:69477 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12684523|PMID:25741868|PMID:28492532|PMID:33156547|PMID:34001834|PMID:35445667 8956762 Gphn gephyrin gene DOID:655 inherited metabolic disorder ISO RGD:69477 D RGD:9068941 20200609 RGD molybdenum cofactor deficiency, complementation group B,OMIM: 252150 PMID:12754701|REF_RGD_ID:1558665 8956762 Gphn gephyrin gene DOID:8501 fundus dystrophy ISO RGD:69477 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:33090715|PMID:33576794|PMID:34001834|PMID:34448047|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:9536098 8956762 Gphn gephyrin gene DOID:9000849 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome PMID:24916380|PMID:25741868|PMID:28492532 8956762 Gphn gephyrin gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:25741868|PMID:33073849 8956762 Gphn gephyrin gene DOID:9003249 Glycosylphosphatidylinositol Biosynthesis Defect 17 ISO RGD:69477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 | ClinVar Annotator: match by term: PIGH-related condition PMID:25741868|PMID:29573052|PMID:29603516|PMID:33156547|PMID:35445667 8956762 Gphn gephyrin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 8956762 Gphn gephyrin gene DOID:9008296 Eye Abnormalities ISO RGD:69477 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:20301475|PMID:20683928|PMID:22065924|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26667666|PMID:28041643|PMID:28492532 8956805 Sntb1 syntrophin beta 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1317088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8956805 Sntb1 syntrophin beta 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28595731 8956805 Sntb1 syntrophin beta 1 gene DOID:630 genetic disease ISO RGD:1317088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956833 Nup58 nucleoporin 58 gene DOID:630 genetic disease ISO RGD:1353907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956875 CUNH11orf52 chromosome unknown C11orf52 homolog gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1604761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8956875 CUNH11orf52 chromosome unknown C11orf52 homolog gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1604761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 8956875 CUNH11orf52 chromosome unknown C11orf52 homolog gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1604761 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8956875 CUNH11orf52 chromosome unknown C11orf52 homolog gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 8956875 CUNH11orf52 chromosome unknown C11orf52 homolog gene DOID:1059 intellectual disability ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8956875 CUNH11orf52 chromosome unknown C11orf52 homolog gene DOID:12704 ataxia telangiectasia ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8956875 CUNH11orf52 chromosome unknown C11orf52 homolog gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8956875 CUNH11orf52 chromosome unknown C11orf52 homolog gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1604761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8956902 Shisa2 shisa family member 2 gene DOID:630 genetic disease ISO RGD:1353356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956908 Edf1 endothelial differentiation related factor 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8956908 Edf1 endothelial differentiation related factor 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1317635 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8956908 Edf1 endothelial differentiation related factor 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1317635 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8956908 Edf1 endothelial differentiation related factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8956908 Edf1 endothelial differentiation related factor 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1317635 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8956908 Edf1 endothelial differentiation related factor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1317635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8956908 Edf1 endothelial differentiation related factor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1317635 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8956908 Edf1 endothelial differentiation related factor 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8956908 Edf1 endothelial differentiation related factor 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1317635 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8956908 Edf1 endothelial differentiation related factor 1 gene DOID:3652 Leigh disease ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8956908 Edf1 endothelial differentiation related factor 1 gene DOID:630 genetic disease ISO RGD:1317635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956908 Edf1 endothelial differentiation related factor 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1317635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8956956 Cdkn2c cyclin dependent kinase inhibitor 2C gene DOID:3948 adrenocortical carcinoma ISO RGD:1604405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 8956956 Cdkn2c cyclin dependent kinase inhibitor 2C gene DOID:630 genetic disease ISO RGD:1604405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956956 Cdkn2c cyclin dependent kinase inhibitor 2C gene DOID:684 hepatocellular carcinoma ISO RGD:1604405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8956956 Cdkn2c cyclin dependent kinase inhibitor 2C gene DOID:9538 multiple myeloma ISO RGD:1604405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8956975 Megf6 multiple EGF like domains 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8956975 Megf6 multiple EGF like domains 6 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8956975 Megf6 multiple EGF like domains 6 gene DOID:0110994 Joubert syndrome 25 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8956975 Megf6 multiple EGF like domains 6 gene DOID:0111934 immunodeficiency 38 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8956975 Megf6 multiple EGF like domains 6 gene DOID:0111935 immunodeficiency 16 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8956975 Megf6 multiple EGF like domains 6 gene DOID:630 genetic disease ISO RGD:736662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8956975 Megf6 multiple EGF like domains 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8956975 Megf6 multiple EGF like domains 6 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:736662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8957017 Mpo myeloperoxidase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 8957017 Mpo myeloperoxidase gene DOID:0060180 colitis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507 8957017 Mpo myeloperoxidase gene DOID:0080162 lupus nephritis susceptibility ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:polymorphism: :−463G > A (human) PMID:17896805|REF_RGD_ID:7174701 8957017 Mpo myeloperoxidase gene DOID:0080348 Alzheimer's disease 1 ISO RGD:1346384 D RGD:7240710 20240308 OMIM 8957017 Mpo myeloperoxidase gene DOID:0080348 Alzheimer's disease 1 ISO RGD:1346384 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Alzheimer disease type 1 PMID:15108282|PMID:17384005|PMID:18273043|PMID:24033266|PMID:25741868|PMID:26764160|PMID:26822949|PMID:27013444|PMID:30487145|PMID:31589614|PMID:31980526|PMID:32531373|PMID:32758447|PMID:32758448|PMID:34426522|PMID:6260268|PMID:7904599|PMID:8142659|PMID:8621627|PMID:9468285|PMID:9507022|PMID:9766845 8957017 Mpo myeloperoxidase gene DOID:0081292 traumatic brain injury ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25668593 8957017 Mpo myeloperoxidase gene DOID:0110980 Joubert syndrome 1 ISO RGD:1346384 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8957017 Mpo myeloperoxidase gene DOID:10247 pleurisy ISO RGD:10916 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:11577999|REF_RGD_ID:5130991 8957017 Mpo myeloperoxidase gene DOID:1059 intellectual disability ISO RGD:1346384 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder PMID:25741868|PMID:37071997 8957017 Mpo myeloperoxidase gene DOID:10652 Alzheimer's disease ISO RGD:1346384 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, susceptibility to PMID:11087769|PMID:12915675|PMID:15023809|PMID:17304047|PMID:25741868 8957017 Mpo myeloperoxidase gene DOID:11054 urinary bladder cancer ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729580 8957017 Mpo myeloperoxidase gene DOID:1252 trichuriasis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864659 8957017 Mpo myeloperoxidase gene DOID:1287 cardiovascular system disease ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19326902 8957017 Mpo myeloperoxidase gene DOID:1287 cardiovascular system disease ISO RGD:1346384 D RGD:9068941 20200609 RGD associated with Kidney Failure, chronic; DNA:SNP: :-463G>A (human) PMID:12694338|REF_RGD_ID:6909169 8957017 Mpo myeloperoxidase gene DOID:1324 lung cancer ISO RGD:1346384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer, protection against, in smokers PMID:11087769|PMID:12915675|PMID:15023809|PMID:17304047 8957017 Mpo myeloperoxidase gene DOID:13619 extrahepatic cholestasis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8957017 Mpo myeloperoxidase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731237|PMID:23274713 8957017 Mpo myeloperoxidase gene DOID:1470 major depressive disorder ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20471444 8957017 Mpo myeloperoxidase gene DOID:1485 cystic fibrosis ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:20954832|REF_RGD_ID:5130986 8957017 Mpo myeloperoxidase gene DOID:1485 cystic fibrosis severity ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-463G>A (human) PMID:16883063|REF_RGD_ID:5130968 8957017 Mpo myeloperoxidase gene DOID:1555 urticaria ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 8957017 Mpo myeloperoxidase gene DOID:1591 renovascular hypertension ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:heart, brain, kidney PMID:19549002|REF_RGD_ID:7174698 8957017 Mpo myeloperoxidase gene DOID:161 keratosis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14580687 8957017 Mpo myeloperoxidase gene DOID:161 keratosis susceptibility ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-463G>T(rs2333227)(human) PMID:14580687|REF_RGD_ID:9479152 8957017 Mpo myeloperoxidase gene DOID:1679 cystitis ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:bladder PMID:19418724|REF_RGD_ID:7174704 8957017 Mpo myeloperoxidase gene DOID:1793 pancreatic cancer resistance ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-463G>A (human) PMID:18205184|REF_RGD_ID:2317406 8957017 Mpo myeloperoxidase gene DOID:1936 atherosclerosis ISO RGD:1346384 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33861588 8957017 Mpo myeloperoxidase gene DOID:2316 brain ischemia ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19417757 8957017 Mpo myeloperoxidase gene DOID:2841 asthma ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10731862|REF_RGD_ID:5130994 8957017 Mpo myeloperoxidase gene DOID:2841 asthma susceptibility ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:polymorphism: :−463G > A (human) PMID:19544176|REF_RGD_ID:5130989 8957017 Mpo myeloperoxidase gene DOID:2921 glomerulonephritis ISO RGD:10916 D RGD:9068941 20200609 RGD PMID:17267745|REF_RGD_ID:7174702 8957017 Mpo myeloperoxidase gene DOID:2921 glomerulonephritis disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:19238910|REF_RGD_ID:7174705 8957017 Mpo myeloperoxidase gene DOID:3021 acute kidney failure ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 8957017 Mpo myeloperoxidase gene DOID:3021 acute kidney failure ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:haplotye: : PMID:22739978|REF_RGD_ID:6909168 8957017 Mpo myeloperoxidase gene DOID:3021 acute kidney failure ISO RGD:1592081 D RGD:9068941 20200609 RGD PMID:19793022|REF_RGD_ID:6909185 8957017 Mpo myeloperoxidase gene DOID:3082 interstitial lung disease ISO RGD:1346384 D RGD:9068941 20200609 RGD associated with Sclerodema, systemic; protein:increased expression:bronchoalveolar lavage fluid PMID:17643278|REF_RGD_ID:5130207 8957017 Mpo myeloperoxidase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:19491038|REF_RGD_ID:5130997 8957017 Mpo myeloperoxidase gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10917466|REF_RGD_ID:5130993 8957017 Mpo myeloperoxidase gene DOID:4989 pancreatitis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16440434 8957017 Mpo myeloperoxidase gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-463G>A( rs2333227)(human) PMID:19731237|REF_RGD_ID:26923907 8957017 Mpo myeloperoxidase gene DOID:557 kidney disease ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19913069 8957017 Mpo myeloperoxidase gene DOID:630 genetic disease ISO RGD:1346384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957017 Mpo myeloperoxidase gene DOID:684 hepatocellular carcinoma ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19731237 8957017 Mpo myeloperoxidase gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-463G>A(human) PMID:21907168|REF_RGD_ID:27095879 8957017 Mpo myeloperoxidase gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1346384 D RGD:9068941 20200609 RGD associated with liver cirrhosis; DNA:SNP:promoter:-463G>A( rs2333227)(human) PMID:19731237|REF_RGD_ID:26923907 8957017 Mpo myeloperoxidase gene DOID:7148 rheumatoid arthritis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443|PMID:26001728 8957017 Mpo myeloperoxidase gene DOID:783 end stage renal disease disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:20638167|REF_RGD_ID:6909184 8957017 Mpo myeloperoxidase gene DOID:850 lung disease ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23451061 8957017 Mpo myeloperoxidase gene DOID:850 lung disease ISO RGD:1346384 D RGD:9068941 20200609 RGD acute lung injury PMID:19483113|REF_RGD_ID:5130962 8957017 Mpo myeloperoxidase gene DOID:8577 ulcerative colitis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20380826|PMID:22119283|PMID:24055189 8957017 Mpo myeloperoxidase gene DOID:865 vasculitis ISO RGD:1346384 D RGD:9068941 20200609 RGD microscopic polyangiitis PMID:21071471|REF_RGD_ID:5130969 8957017 Mpo myeloperoxidase gene DOID:874 bacterial pneumonia ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased activity:bronchoalveolar lavage Fluid: PMID:11269653|REF_RGD_ID:5130992 8957017 Mpo myeloperoxidase gene DOID:9000039 Spinal Cord Injuries ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:spinal cord PMID:22986158|REF_RGD_ID:6909148 8957017 Mpo myeloperoxidase gene DOID:9000099 Experimental Colitis treatment ISO RGD:1592081 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 8957017 Mpo myeloperoxidase gene DOID:9000998 Brain Injuries ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8957017 Mpo myeloperoxidase gene DOID:9001600 Wounds and Injuries ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 8957017 Mpo myeloperoxidase gene DOID:9001708 Hemorrhagic Shock ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21192278 8957017 Mpo myeloperoxidase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21716162 8957017 Mpo myeloperoxidase gene DOID:9002315 Kidney Calculi ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased activity:blood PMID:18022927|REF_RGD_ID:7174700 8957017 Mpo myeloperoxidase gene DOID:9002457 Experimental Arthritis ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22450443 8957017 Mpo myeloperoxidase gene DOID:9002575 Myeloperoxidase Deficiency ISO RGD:1346384 D RGD:7240710 20240308 OMIM 8957017 Mpo myeloperoxidase gene DOID:9002575 Myeloperoxidase Deficiency ISO RGD:1346384 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myeloperoxidase deficiency PMID:14980716|PMID:15108282|PMID:17017121|PMID:17384005|PMID:17650507|PMID:18273043|PMID:24033266|PMID:25741868|PMID:26764160|PMID:26822949|PMID:27013444|PMID:28492532|PMID:30487145|PMID:31589614|PMID:31980526|PMID:32531373|PMID:32758447|PMID:32758448|PMID:33531667|PMID:34426522|PMID:6260268|PMID:7904599|PMID:8142659|PMID:8621627|PMID:9354683|PMID:9468285|PMID:9507022|PMID:9637725|PMID:9766845 8957017 Mpo myeloperoxidase gene DOID:9002669 Hypoxia ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8552434 8957017 Mpo myeloperoxidase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1592081 D RGD:9068941 20220616 RGD protein:increased activity:brain: PMID:25720338|REF_RGD_ID:152995398 8957017 Mpo myeloperoxidase gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis disease_progression ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:23085883|REF_RGD_ID:7174703 8957017 Mpo myeloperoxidase gene DOID:9004009 Reperfusion Injury ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10706834|PMID:12024109|PMID:16971220|PMID:19058328|PMID:20863214|PMID:8869312 8957017 Mpo myeloperoxidase gene DOID:9004009 Reperfusion Injury ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:lung PMID:21470877|REF_RGD_ID:5130958 8957017 Mpo myeloperoxidase gene DOID:9004484 Sepsis ISO RGD:10916 D RGD:9068941 20200609 RGD PMID:18424617|REF_RGD_ID:5130966 8957017 Mpo myeloperoxidase gene DOID:9004610 Acute Lung Injury ISO RGD:10916 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury; protein:increased activity:lung PMID:22092133|REF_RGD_ID:6909173 8957017 Mpo myeloperoxidase gene DOID:9005172 Lung Neoplasms ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12111688 8957017 Mpo myeloperoxidase gene DOID:9005236 Drug Eruptions ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204966 8957017 Mpo myeloperoxidase gene DOID:9005254 Systemic Candidiasis severity ISO RGD:10916 D RGD:9068941 20210108 RGD PMID:12085336|REF_RGD_ID:40903072 8957017 Mpo myeloperoxidase gene DOID:9005372 Inflammation ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10407471|PMID:19066340|PMID:19326902|PMID:23371441|PMID:23451061 8957017 Mpo myeloperoxidase gene DOID:9005463 Occupational Diseases ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15576619 8957017 Mpo myeloperoxidase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 8957017 Mpo myeloperoxidase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:liver: PMID:18436980|REF_RGD_ID:2317971 8957017 Mpo myeloperoxidase gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:1592081 D RGD:9068941 20200609 RGD PMID:20722568|REF_RGD_ID:6909183 8957017 Mpo myeloperoxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10916 D RGD:9068941 20200609 RGD PMID:18055546|REF_RGD_ID:7174699 8957017 Mpo myeloperoxidase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:kidney PMID:22950848|REF_RGD_ID:6909167 8957017 Mpo myeloperoxidase gene DOID:9006928 Viral Bronchiolitis ISO RGD:1346384 D RGD:9068941 20200609 RGD PMID:7841728|REF_RGD_ID:5130995 8957017 Mpo myeloperoxidase gene DOID:9007102 Myocardial Ischemia ISO RGD:1346384 D RGD:9068941 20200609 RGD Acute Coronary Syndrome; protein:increased expression:plasma PMID:21226709|REF_RGD_ID:5130961 8957017 Mpo myeloperoxidase gene DOID:9007156 Enteritis ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:intestine mucosa PMID:20950601|REF_RGD_ID:6909182 8957017 Mpo myeloperoxidase gene DOID:9007651 Chronic Bronchitis ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11798689|REF_RGD_ID:5130990 8957017 Mpo myeloperoxidase gene DOID:9007730 Burns ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11996850 8957017 Mpo myeloperoxidase gene DOID:9007730 Burns ISO RGD:1592081 D RGD:9068941 20200609 RGD protein:increased activity:kidney, lung PMID:22356815|REF_RGD_ID:6909170 8957017 Mpo myeloperoxidase gene DOID:936 brain disease ISO RGD:1346384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23593274 8957017 Mpo myeloperoxidase gene DOID:9362 status asthmaticus ISO RGD:1346384 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10731862|REF_RGD_ID:5130994 8957038 Pank2 pantothenate kinase 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:11479594|PMID:12510040|PMID:16023068|PMID:28492532 8957038 Pank2 pantothenate kinase 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313038 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8957038 Pank2 pantothenate kinase 2 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1313038 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical PMID:11479594|PMID:12510040|PMID:14743358|PMID:15565311|PMID:15659606|PMID:15834858|PMID:16023068|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23166001|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:25802776|PMID:26087139|PMID:26547561|PMID:26795593|PMID:27185474|PMID:27544236|PMID:28113101|PMID:28492532|PMID:28708303|PMID:28781879|PMID:29590070 8957038 Pank2 pantothenate kinase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11479594|PMID:12510040|PMID:15659606|PMID:15834858|PMID:16272150|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:26497376|PMID:26795593|PMID:28492532|PMID:28708303|PMID:29590070 8957038 Pank2 pantothenate kinase 2 gene DOID:1289 neurodegenerative disease ISO RGD:1313038 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:15911822|PMID:16149094|PMID:16437574|PMID:23166001|PMID:24250886|PMID:25741868|PMID:28492532|PMID:28680084|PMID:29801903 8957038 Pank2 pantothenate kinase 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1313038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:12510040|PMID:16437574|PMID:28492532 8957038 Pank2 pantothenate kinase 2 gene DOID:2367 neuroaxonal dystrophy ISO RGD:1313038 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neuroaxonal dystrophy, late infantile PMID:11479594|PMID:12510040|PMID:15911822|PMID:16149094|PMID:16437574|PMID:16758184|PMID:23166001|PMID:24250886|PMID:25741868|PMID:28492532|PMID:28680084|PMID:29801903 8957038 Pank2 pantothenate kinase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313038 D RGD:7240710 20180130 OMIM 8957038 Pank2 pantothenate kinase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313038 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1 | ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:11479594|PMID:12058097|PMID:12510040|PMID:12523119|PMID:12811783|PMID:1301187|PMID:14631201|PMID:14638969|PMID:14639680|PMID:14743358|PMID:15465096|PMID:15565311|PMID:15659606|PMID:15747360|PMID:15834858|PMID:15843062|PMID:15911822|PMID:16023068|PMID:16149094|PMID:16157712|PMID:16199547|PMID:16240131|PMID:16272150|PMID:16437574|PMID:16450344|PMID:16758184|PMID:1734303|PMID:17576681|PMID:17903678|PMID:18006953|PMID:19224615|PMID:20076801|PMID:20193558|PMID:20497339|PMID:20551478|PMID:20603201|PMID:20629144|PMID:20721927|PMID:21198414|PMID:21459825|PMID:21480873|PMID:21877312|PMID:22103354|PMID:22127788|PMID:22221393|PMID:22416811|PMID:22547525|PMID:22682757|PMID:23166001|PMID:23634310|PMID:23757202|PMID:23968566|PMID:24033266|PMID:24075960|PMID:24209433|PMID:24215330|PMID:24250886|PMID:24348190|PMID:24689511|PMID:24712887|PMID:24868354|PMID:25268133|PMID:25741868|PMID:25802776|PMID:25915509|PMID:26087139|PMID:26467025|PMID:26547561|PMID:26795593|PMID:26828213|PMID:27185474|PMID:27303611|PMID:27544236|PMID:27815806|PMID:28094106|PMID:28113101|PMID:28357202|PMID:28492532|PMID:28680084|PMID:28681788|PMID:28708303|PMID:28781879|PMID:28821231|PMID:28845923|PMID:28863176|PMID:28881514|PMID:29590070|PMID:29801903|PMID:30363610|PMID:30681573|PMID:31088771|PMID:31540697|PMID:32043823|PMID:32310012|PMID:32581362|PMID:32654475|PMID:32851917|PMID:33043782|PMID:33072517|PMID:33098801|PMID:33853092|PMID:34272103|PMID:7898702|PMID:9536098 8957038 Pank2 pantothenate kinase 2 gene DOID:543 dystonia ISO RGD:1313038 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:11479594|PMID:12058097|PMID:12510040|PMID:1734303|PMID:25741868|PMID:28492532|PMID:32581362 8957038 Pank2 pantothenate kinase 2 gene DOID:630 genetic disease ISO RGD:1313038 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479594|PMID:12058097|PMID:12510040|PMID:14638969|PMID:15565311|PMID:15659606|PMID:15834858|PMID:16199547|PMID:16272150|PMID:16437574|PMID:16450344|PMID:22221393|PMID:22416811|PMID:23968566|PMID:24075960|PMID:24215330|PMID:24348190|PMID:25741868|PMID:25802776|PMID:26087139|PMID:26795593|PMID:27185474|PMID:27303611|PMID:28492532|PMID:28708303|PMID:28781879|PMID:28863176|PMID:29590070|PMID:31540697|PMID:32654475|PMID:33043782|PMID:7898702 8957038 Pank2 pantothenate kinase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:1313038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20493851 8957038 Pank2 pantothenate kinase 2 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1313038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 8957049 Naalad2 N-acetylated alpha-linked acidic dipeptidase 2 gene DOID:1059 intellectual disability ISO RGD:1314164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8957049 Naalad2 N-acetylated alpha-linked acidic dipeptidase 2 gene DOID:630 genetic disease ISO RGD:1314164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957049 Naalad2 N-acetylated alpha-linked acidic dipeptidase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8957073 Hpca hippocalcin gene DOID:0050861 colorectal adenocarcinoma severity ISO RGD:735421 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon carcinoma (human) PMID:22696308|REF_RGD_ID:9693683 8957073 Hpca hippocalcin gene DOID:0060870 isolated growth hormone deficiency ISO RGD:735422 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) PMID:7882001|REF_RGD_ID:9693682 8957073 Hpca hippocalcin gene DOID:0090038 torsion dystonia 2 ISO RGD:735421 D RGD:7240710 20180130 OMIM 8957073 Hpca hippocalcin gene DOID:0090038 torsion dystonia 2 ISO RGD:735421 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Torsion dystonia 2 PMID:14694054|PMID:25799108|PMID:28492532|PMID:6115727 8957073 Hpca hippocalcin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:735421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8957073 Hpca hippocalcin gene DOID:12858 Huntington's disease ISO RGD:735421 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (human) PMID:19686238|REF_RGD_ID:9693681 8957073 Hpca hippocalcin gene DOID:630 genetic disease ISO RGD:735421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957094 Cdc37 cell division cycle 37, HSP90 cochaperone gene DOID:630 genetic disease ISO RGD:732258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957110 Mgrn1 mahogunin ring finger 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1353673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8957110 Mgrn1 mahogunin ring finger 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1353673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8957110 Mgrn1 mahogunin ring finger 1 gene DOID:1826 epilepsy ISO RGD:1353673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8957110 Mgrn1 mahogunin ring finger 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1353673 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8957110 Mgrn1 mahogunin ring finger 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1353673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8957110 Mgrn1 mahogunin ring finger 1 gene DOID:2018 hyperinsulinism ISO RGD:1558478 D RGD:9068941 20200609 RGD PMID:16638826|REF_RGD_ID:1641947 8957110 Mgrn1 mahogunin ring finger 1 gene DOID:4195 hyperglycemia ISO RGD:1558478 D RGD:9068941 20200609 RGD PMID:16638826|REF_RGD_ID:1641947 8957110 Mgrn1 mahogunin ring finger 1 gene DOID:630 genetic disease ISO RGD:1353673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957110 Mgrn1 mahogunin ring finger 1 gene DOID:9970 obesity ISO RGD:1558478 D RGD:9068941 20200609 RGD PMID:16638826|REF_RGD_ID:1641947 8957137 Cracdl CRACD like gene DOID:630 genetic disease ISO RGD:1602270 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957179 Pcgf5 polycomb group ring finger 5 gene DOID:0080600 COVID-19 ISO RGD:1351153 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8957179 Pcgf5 polycomb group ring finger 5 gene DOID:630 genetic disease ISO RGD:1351153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957214 Apof apolipoprotein F gene DOID:630 genetic disease ISO RGD:1344329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957214 Apof apolipoprotein F gene DOID:684 hepatocellular carcinoma ISO RGD:1344329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8957220 Cd300a CD300a molecule gene DOID:630 genetic disease ISO RGD:1344130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957237 Cdcp1 CUB domain containing protein 1 gene DOID:2661 myoepithelioma ISO RGD:1601855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8957237 Cdcp1 CUB domain containing protein 1 gene DOID:303 substance-related disorder ISO RGD:1601855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8957237 Cdcp1 CUB domain containing protein 1 gene DOID:630 genetic disease ISO RGD:1601855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957259 Pdyn prodynorphin gene DOID:0050155 sensory system disease ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19200067 8957259 Pdyn prodynorphin gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:62054 D RGD:9068941 20231026 RGD DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens PMID:29678771|REF_RGD_ID:401851055 8957259 Pdyn prodynorphin gene DOID:0050741 alcohol dependence ISO RGD:1343954 D RGD:9068941 20231019 RGD DNA:SNP, hypermethylation:promoter:rs2235751 (human) PMID:28336495|REF_RGD_ID:401850551 8957259 Pdyn prodynorphin gene DOID:0050741 alcohol dependence ISO RGD:1343954 D RGD:9068941 20231019 RGD DNA:SNPs, haplotypes:multiple PMID:23101464|REF_RGD_ID:401850560 8957259 Pdyn prodynorphin gene DOID:0050741 alcohol dependence ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:SNP, hypermethylation:dorsolateral prefrontal cortex:rs2281285 (human) PMID:21521424|REF_RGD_ID:401850575 8957259 Pdyn prodynorphin gene DOID:0050741 alcohol dependence ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:SNP: :rs2281285 (human) PMID:24223163|REF_RGD_ID:401850565 8957259 Pdyn prodynorphin gene DOID:0050741 alcohol dependence ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:SNPs: :multiple PMID:16924269|REF_RGD_ID:401850571 8957259 Pdyn prodynorphin gene DOID:0050741 alcohol dependence ISO RGD:1343954 D RGD:9068941 20231021 RGD mRNA, protein:increased expression:dorsolateral prefrontal cortex, orbitofrontal cortex PMID:21955155|REF_RGD_ID:401850584 8957259 Pdyn prodynorphin gene DOID:0050741 alcohol dependence disease_progression ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:SNP: :rs2281285 (human) PMID:26502829|REF_RGD_ID:11535796 8957259 Pdyn prodynorphin gene DOID:0050741 alcohol dependence no_association ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:SNP: :rs1997794 (human) PMID:24035285|REF_RGD_ID:401850579 8957259 Pdyn prodynorphin gene DOID:0050973 spinocerebellar ataxia type 23 ISO RGD:1343954 D RGD:7240710 20180130 OMIM 8957259 Pdyn prodynorphin gene DOID:0050973 spinocerebellar ataxia type 23 ISO RGD:1343954 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 23 PMID:21035104|PMID:22243190|PMID:22287014|PMID:23108490|PMID:23355175|PMID:23471613|PMID:25741868|PMID:26467025|PMID:27528516|PMID:28492532|PMID:35401678 8957259 Pdyn prodynorphin gene DOID:0060001 withdrawal disorder ISO RGD:62054 D RGD:9068941 20231026 RGD associated with cocaine abuse;mRNA:altered expression:hippocampal formation, nucleus accumbens PMID:30818133|REF_RGD_ID:401851051 8957259 Pdyn prodynorphin gene DOID:0060001 withdrawal disorder ISO RGD:62054 D RGD:9068941 20231102 RGD associated with opioid abuse PMID:9045086|REF_RGD_ID:401851908 8957259 Pdyn prodynorphin gene DOID:0080855 Parkinsonism ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9930741 8957259 Pdyn prodynorphin gene DOID:0080855 Parkinsonism disease_progression ISO RGD:62054 D RGD:9068941 20231026 RGD mRNA:increased expression:striatum PMID:26113400|REF_RGD_ID:401851054 8957259 Pdyn prodynorphin gene DOID:0081292 traumatic brain injury ISO RGD:62054 D RGD:9068941 20231109 RGD mRNA:increased expression:hippocampus PMID:12626770|REF_RGD_ID:633616 8957259 Pdyn prodynorphin gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1343954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8957259 Pdyn prodynorphin gene DOID:10914 amnestic disorder ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7768285 8957259 Pdyn prodynorphin gene DOID:11162 respiratory failure ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6662192 8957259 Pdyn prodynorphin gene DOID:11206 opioid abuse ISO RGD:1343954 D RGD:9068941 20231021 RGD mRNA, protein:increased expression:peripheral blood lymphocyte PMID:31710992|REF_RGD_ID:401850570 8957259 Pdyn prodynorphin gene DOID:11206 opioid abuse ISO RGD:62054 D RGD:9068941 20231026 RGD protein:increased expression:nucleus accumbens PMID:24305833|REF_RGD_ID:401850592 8957259 Pdyn prodynorphin gene DOID:13580 cholestasis ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16919318 8957259 Pdyn prodynorphin gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1343954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia 8957259 Pdyn prodynorphin gene DOID:1470 major depressive disorder ISO RGD:1343954 D RGD:9068941 20231019 RGD associated with heroin dependence or alcohol use disorder;DNA:repeat:promoter:rs35286251 (human) PMID:35271823|REF_RGD_ID:401850556 8957259 Pdyn prodynorphin gene DOID:1470 major depressive disorder ISO RGD:1343954 D RGD:9068941 20231019 RGD mRNA:decreased expression:periamygdaloid cortex PMID:24231353|REF_RGD_ID:401850554 8957259 Pdyn prodynorphin gene DOID:1574 alcohol use disorder ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17559549|PMID:18923396 8957259 Pdyn prodynorphin gene DOID:1574 alcohol use disorder ISO RGD:1343954 D RGD:9068941 20231019 RGD DNA, mRNA:SNP, decreased expression:promoter, dorsolateral prefrontal cortex:rs1997794 (human) PMID:29925858|REF_RGD_ID:401850559 8957259 Pdyn prodynorphin gene DOID:1574 alcohol use disorder ISO RGD:62054 D RGD:9068941 20231028 RGD mRNA, protein:decreased expression:hippocampus, granule cell PMID:1589146|REF_RGD_ID:401851059 8957259 Pdyn prodynorphin gene DOID:1574 alcohol use disorder no_association ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:SNP: :rs2281285 (human) PMID:36099111|REF_RGD_ID:401850566 8957259 Pdyn prodynorphin gene DOID:1574 alcohol use disorder no_association ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:SNPs: :rs2281285, rs2225749, rs910080 (human) PMID:37177778|REF_RGD_ID:401850581 8957259 Pdyn prodynorphin gene DOID:1574 alcohol use disorder susceptibility ISO RGD:1343954 D RGD:9068941 20231019 RGD associated with cocaine dependence;DNA, mRNA:SNPs, haplotype:3' utr:rs910080, rs910079, rs2235749 (human) PMID:18923396|REF_RGD_ID:401850550 8957259 Pdyn prodynorphin gene DOID:1596 depressive disorder ISO RGD:62054 D RGD:9068941 20231021 RGD PMID:24816773|REF_RGD_ID:401850568 8957259 Pdyn prodynorphin gene DOID:1826 epilepsy ISO RGD:62054 D RGD:9068941 20231026 RGD mRNA:increased expression:hippocampal formation PMID:7898641|REF_RGD_ID:401851050 8957259 Pdyn prodynorphin gene DOID:1826 epilepsy ISO RGD:62054 D RGD:9068941 20231102 RGD PMID:8528458|REF_RGD_ID:401851909 8957259 Pdyn prodynorphin gene DOID:224 transient cerebral ischemia ISO RGD:62054 D RGD:9068941 20231026 RGD mRNA:decreased expression:dentate gyrus, granule cell PMID:8914861|REF_RGD_ID:401851049 8957259 Pdyn prodynorphin gene DOID:2559 opiate dependence ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:SNP: :rs1022563 (human) PMID:22443215|REF_RGD_ID:401850569 8957259 Pdyn prodynorphin gene DOID:2559 opiate dependence no_association ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:SNP: :rs199774, rs1022563 (human) PMID:28656735|REF_RGD_ID:401850580 8957259 Pdyn prodynorphin gene DOID:2559 opiate dependence no_association ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:SNP: :rs910080, rs199774 (human) PMID:22443215|REF_RGD_ID:401850569 8957259 Pdyn prodynorphin gene DOID:2559 opiate dependence sexual_dimorphism ISO RGD:1343954 D RGD:9068941 20231026 RGD DNA:SNPs:promoter, 3' utr:rs1997794, rs102256 PMID:19298317|REF_RGD_ID:401850586 8957259 Pdyn prodynorphin gene DOID:2559 opiate dependence susceptibility ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:SNP: :rs910080 (human) PMID:28656735|REF_RGD_ID:401850580 8957259 Pdyn prodynorphin gene DOID:2560 morphine dependence treatment ISO RGD:62054 D RGD:9068941 20231026 RGD PMID:15976090|REF_RGD_ID:401850590 8957259 Pdyn prodynorphin gene DOID:3328 temporal lobe epilepsy ISO RGD:1343954 D RGD:9068941 20200609 RGD DNA:repeats:promoter: (human) PMID:11835385|REF_RGD_ID:1358556 8957259 Pdyn prodynorphin gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1343954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8957259 Pdyn prodynorphin gene DOID:480 movement disease ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 8957259 Pdyn prodynorphin gene DOID:6000 congestive heart failure ISO RGD:62054 D RGD:9068941 20231109 RGD mRNA, protein:increased expression:left heart ventricle PMID:26365878|REF_RGD_ID:401900132 8957259 Pdyn prodynorphin gene DOID:630 genetic disease ISO RGD:1343954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 8957259 Pdyn prodynorphin gene DOID:670 amphetamine abuse ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16529859 8957259 Pdyn prodynorphin gene DOID:670 amphetamine abuse ISO RGD:1343954 D RGD:9068941 20231019 RGD DNA:repeat:promoter:rs35286251 (human) PMID:16529859|REF_RGD_ID:401850552 8957259 Pdyn prodynorphin gene DOID:670 amphetamine abuse ISO RGD:62054 D RGD:9068941 20231021 RGD mRNA:altered expression:brain PMID:16289352|REF_RGD_ID:401850564 8957259 Pdyn prodynorphin gene DOID:670 amphetamine abuse ISO RGD:62054 D RGD:9068941 20231026 RGD mRNA:increased expression:central amygdaloid nucleus PMID:12523490|REF_RGD_ID:401850585 8957259 Pdyn prodynorphin gene DOID:670 amphetamine abuse ISO RGD:62054 D RGD:9068941 20231102 RGD mRNA:increased expression:nucleus acccumbens PMID:27989838|REF_RGD_ID:401851910 8957259 Pdyn prodynorphin gene DOID:670 amphetamine abuse ISO RGD:62346 D RGD:9068941 20231026 RGD mRNA:increased expression:nucleus accumbens PMID:22390687|REF_RGD_ID:401851043 8957259 Pdyn prodynorphin gene DOID:809 cocaine abuse ISO RGD:62054 D RGD:9068941 20231021 RGD mRNA:increased expression:caudate putamen PMID:7694032|REF_RGD_ID:401850578 8957259 Pdyn prodynorphin gene DOID:809 cocaine abuse ISO RGD:62054 D RGD:9068941 20231026 RGD mRNA:increased expression:central amygdaloid nucleus, dentate gyrus of hippocampal formation PMID:12523490|REF_RGD_ID:401850585 8957259 Pdyn prodynorphin gene DOID:9000641 Pain ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17670969|PMID:20068450 8957259 Pdyn prodynorphin gene DOID:9001048 Nociceptive Pain ISO RGD:62054 D RGD:9068941 20231102 RGD PMID:25663984|REF_RGD_ID:401851903 8957259 Pdyn prodynorphin gene DOID:9001443 Hypercapnia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 8957259 Pdyn prodynorphin gene DOID:9002211 Hyperalgesia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17670969 8957259 Pdyn prodynorphin gene DOID:9002457 Experimental Arthritis treatment ISO RGD:62054 D RGD:9068941 20231102 RGD PMID:25102697|REF_RGD_ID:401851905 8957259 Pdyn prodynorphin gene DOID:9002669 Hypoxia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 8957259 Pdyn prodynorphin gene DOID:9004120 Alcohol Withdrawal Seizures ISO RGD:62346 D RGD:9068941 20231021 RGD mRNA:increased expression:brain PMID:15869750|REF_RGD_ID:401850576 8957259 Pdyn prodynorphin gene DOID:9004659 Respiration Disorders ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6131355 8957259 Pdyn prodynorphin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16184603|PMID:17559549|PMID:18575850|PMID:18923396 8957259 Pdyn prodynorphin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:VNTR:promoter PMID:11992566|REF_RGD_ID:401850567 8957259 Pdyn prodynorphin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:62054 D RGD:9068941 20231021 RGD PMID:24816773|REF_RGD_ID:401850568 8957259 Pdyn prodynorphin gene DOID:9005632 Cocaine-Related Disorders ISO RGD:62054 D RGD:9068941 20231102 RGD mRNA:altered expression:brain PMID:8840025|REF_RGD_ID:401851906 8957259 Pdyn prodynorphin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62054 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve, peroneal nerve, tibial nerve, footpad skin: PMID:16924480|REF_RGD_ID:9834947 8957259 Pdyn prodynorphin gene DOID:9006024 Hypotension ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:2536002|PMID:2566129|PMID:6131355 8957259 Pdyn prodynorphin gene DOID:9006202 Pruritus ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29669290 8957259 Pdyn prodynorphin gene DOID:9007001 Bradycardia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1676337|PMID:6131355|PMID:6716269 8957259 Pdyn prodynorphin gene DOID:9007090 Experimental Seizures ISO RGD:62054 D RGD:9068941 20231109 RGD mRNA, protein:increased expression:frontal cortex, hippocamlpus, temporal cortex PMID:10691294|REF_RGD_ID:401854253 8957259 Pdyn prodynorphin gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21737418|PMID:9767399 8957259 Pdyn prodynorphin gene DOID:9008394 Drug-Induced Dyskinesia severity ISO RGD:62054 D RGD:9068941 20231021 RGD associated with Parkinsonism;protein:increased expression:striatum PMID:21737418|REF_RGD_ID:401850563 8957259 Pdyn prodynorphin gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:62054 D RGD:9068941 20231026 RGD PMID:17884291|REF_RGD_ID:401851046 8957259 Pdyn prodynorphin gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:62054 D RGD:9068941 20231109 RGD associated with Parkinsonism PMID:10869049|REF_RGD_ID:401900134 8957259 Pdyn prodynorphin gene DOID:9008675 Dyskinesias ISO RGD:1343954 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21984936 8957259 Pdyn prodynorphin gene DOID:9975 cocaine dependence ISO RGD:62346 D RGD:9068941 20231026 RGD mRNA:increased expression:caudate-putamen PMID:23164614|REF_RGD_ID:401850589 8957259 Pdyn prodynorphin gene DOID:9975 cocaine dependence ISO RGD:62346 D RGD:9068941 20231026 RGD mRNA:increased expression:nucleus accumbens PMID:22390687|REF_RGD_ID:401851043 8957259 Pdyn prodynorphin gene DOID:9975 cocaine dependence susceptibility ISO RGD:1343954 D RGD:9068941 20231019 RGD DNA, mRNA:SNPs, haplotype:3' utr:rs910080, rs910079, rs2235749 (human) PMID:18923396|REF_RGD_ID:401850550 8957259 Pdyn prodynorphin gene DOID:9975 cocaine dependence susceptibility ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:VNTR:Promoter PMID:16184603|REF_RGD_ID:401850583 8957259 Pdyn prodynorphin gene DOID:9976 heroin dependence ISO RGD:1343954 D RGD:9068941 20231019 RGD mRNA:decreased expression:periamygdaloid cortex PMID:24231353|REF_RGD_ID:401850554 8957259 Pdyn prodynorphin gene DOID:9976 heroin dependence ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:VNTR, SNPs:rs1022563, rs2235749, rs910080 (human) PMID:21382455|REF_RGD_ID:401850577 8957259 Pdyn prodynorphin gene DOID:9976 heroin dependence no_association ISO RGD:1343954 D RGD:9068941 20231019 RGD DNA:SNPs, repeat:promoter:rs2281285, rs2235749, rs35286251 (human) PMID:29911117|REF_RGD_ID:401850561 8957259 Pdyn prodynorphin gene DOID:9976 heroin dependence onset ISO RGD:1343954 D RGD:9068941 20231019 RGD DNA:repeat:promoter:rs35286251 (human) PMID:30936032|PMID:35271823|REF_RGD_ID:401850549|REF_RGD_ID:401850556 8957259 Pdyn prodynorphin gene DOID:9976 heroin dependence susceptibility ISO RGD:1343954 D RGD:9068941 20231019 RGD DNA:SNP: :rs910080 (human) PMID:29911117|REF_RGD_ID:401850561 8957259 Pdyn prodynorphin gene DOID:9976 heroin dependence susceptibility ISO RGD:1343954 D RGD:9068941 20231021 RGD DNA:VNTR:promoter PMID:30138645|REF_RGD_ID:401850562 8957270 Sec24c SEC24 homolog C, COPII coat complex component gene DOID:10907 microcephaly ISO RGD:1321602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8957270 Sec24c SEC24 homolog C, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1321602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957313 Mtf1 metal regulatory transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319031 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8957313 Mtf1 metal regulatory transcription factor 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8957313 Mtf1 metal regulatory transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:1319031 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15446388 8957313 Mtf1 metal regulatory transcription factor 1 gene DOID:630 genetic disease ISO RGD:1319031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:732853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:732853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:1936 atherosclerosis treatment ISO RGD:732854 D RGD:9068941 20231019 RGD PMID:23650230|REF_RGD_ID:401842363 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:630 genetic disease ISO RGD:732853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:783 end stage renal disease ISO RGD:620294 D RGD:9068941 20230914 RGD protein:increased expression:kidney (rat) PMID:19878707|REF_RGD_ID:2326081 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:783 end stage renal disease ISO RGD:732853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:9004657 Weight Gain ISO RGD:732853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17194745 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:9263 homocystinuria ISO RGD:732853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8957328 Abcg1 ATP binding cassette subfamily G member 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732853 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8957362 Arf1 ADP ribosylation factor 1 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 8957362 Arf1 ADP ribosylation factor 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12566280|PMID:24078732 8957362 Arf1 ADP ribosylation factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8957362 Arf1 ADP ribosylation factor 1 gene DOID:2913 acute pancreatitis treatment ISO RGD:1553445 D RGD:9068941 20200609 RGD PMID:22570480|REF_RGD_ID:9684857 8957362 Arf1 ADP ribosylation factor 1 gene DOID:9002078 Periventricular Nodular Heterotopia 8 ISO RGD:1353880 D RGD:7240710 20190315 OMIM 8957362 Arf1 ADP ribosylation factor 1 gene DOID:9002078 Periventricular Nodular Heterotopia 8 ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 PMID:25741868|PMID:28868155 8957362 Arf1 ADP ribosylation factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1353880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517156 8957362 Arf1 ADP ribosylation factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1353880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27517156 8957362 Arf1 ADP ribosylation factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8957371 Arfgap1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1352175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8957371 Arfgap1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1352175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8957371 Arfgap1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1352175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8957371 Arfgap1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1352175 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8957371 Arfgap1 ADP ribosylation factor GTPase activating protein 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1352175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8957371 Arfgap1 ADP ribosylation factor GTPase activating protein 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1352175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8957371 Arfgap1 ADP ribosylation factor GTPase activating protein 1 gene DOID:1826 epilepsy ISO RGD:1352175 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8957371 Arfgap1 ADP ribosylation factor GTPase activating protein 1 gene DOID:630 genetic disease ISO RGD:1352175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957371 Arfgap1 ADP ribosylation factor GTPase activating protein 1 gene DOID:863 nervous system disease ISO RGD:1352175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 8957371 Arfgap1 ADP ribosylation factor GTPase activating protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20805988 8957408 Gltp glycolipid transfer protein gene DOID:630 genetic disease ISO RGD:1602720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957417 Serinc3 serine incorporator 3 gene DOID:2234 focal epilepsy ISO RGD:1318130 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8957417 Serinc3 serine incorporator 3 gene DOID:630 genetic disease ISO RGD:1318130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957417 Serinc3 serine incorporator 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1318130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8957417 Serinc3 serine incorporator 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8957431 Fam149a family with sequence similarity 149 member A gene DOID:0060041 autism spectrum disorder ISO RGD:1604030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 8957431 Fam149a family with sequence similarity 149 member A gene DOID:12849 autistic disorder ISO RGD:1604030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8957431 Fam149a family with sequence similarity 149 member A gene DOID:630 genetic disease ISO RGD:1604030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957431 Fam149a family with sequence similarity 149 member A gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1604030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8957457 Stxbp4 syntaxin binding protein 4 gene DOID:630 genetic disease ISO RGD:1317366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957457 Stxbp4 syntaxin binding protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1317366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8957493 Wdr90 WD repeat domain 90 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8957493 Wdr90 WD repeat domain 90 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604213 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8957493 Wdr90 WD repeat domain 90 gene DOID:1826 epilepsy ISO RGD:1604213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8957493 Wdr90 WD repeat domain 90 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8957493 Wdr90 WD repeat domain 90 gene DOID:630 genetic disease ISO RGD:1604213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957539 Sorbs2 sorbin and SH3 domain containing 2 gene DOID:12849 autistic disorder ISO RGD:732975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8957539 Sorbs2 sorbin and SH3 domain containing 2 gene DOID:630 genetic disease ISO RGD:732975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957539 Sorbs2 sorbin and SH3 domain containing 2 gene DOID:9004657 Weight Gain ISO RGD:732975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8957539 Sorbs2 sorbin and SH3 domain containing 2 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:732975 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8957681 Ddx25 DEAD-box helicase 25 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8957681 Ddx25 DEAD-box helicase 25 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8957681 Ddx25 DEAD-box helicase 25 gene DOID:14227 azoospermia ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8957681 Ddx25 DEAD-box helicase 25 gene DOID:5419 schizophrenia ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8957681 Ddx25 DEAD-box helicase 25 gene DOID:630 genetic disease ISO RGD:1353633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957681 Ddx25 DEAD-box helicase 25 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8957681 Ddx25 DEAD-box helicase 25 gene DOID:9007661 Dwarfism ISO RGD:1353633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8957701 Pttg1 PTTG1 regulator of sister chromatid separation, securin gene DOID:12894 Sjogren's syndrome ISO RGD:68511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 8957701 Pttg1 PTTG1 regulator of sister chromatid separation, securin gene DOID:630 genetic disease ISO RGD:68511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957701 Pttg1 PTTG1 regulator of sister chromatid separation, securin gene DOID:684 hepatocellular carcinoma ISO RGD:68511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8957701 Pttg1 PTTG1 regulator of sister chromatid separation, securin gene DOID:8893 psoriasis ISO RGD:68511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953187 8957701 Pttg1 PTTG1 regulator of sister chromatid separation, securin gene DOID:9002234 Pituitary Neoplasms ISO RGD:68359 D RGD:9068941 20200609 RGD PMID:9092795|REF_RGD_ID:68295 8957713 Oxct2 3-oxoacid CoA-transferase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1315859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8957713 Oxct2 3-oxoacid CoA-transferase 2 gene DOID:630 genetic disease ISO RGD:1315859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957718 Bco2 beta-carotene oxygenase 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1319131 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8957718 Bco2 beta-carotene oxygenase 2 gene DOID:1059 intellectual disability ISO RGD:1319131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8957718 Bco2 beta-carotene oxygenase 2 gene DOID:630 genetic disease ISO RGD:1319131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957718 Bco2 beta-carotene oxygenase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1319131 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8957718 Bco2 beta-carotene oxygenase 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8957718 Bco2 beta-carotene oxygenase 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1319131 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8957734 Ttc23 tetratricopeptide repeat domain 23 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1601741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 8957734 Ttc23 tetratricopeptide repeat domain 23 gene DOID:4501 orofaciodigital syndrome ISO RGD:1601741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome 8957766 Smug1 single-strand-selective monofunctional uracil-DNA glycosylase 1 gene DOID:10283 prostate cancer ISO RGD:1606814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8957766 Smug1 single-strand-selective monofunctional uracil-DNA glycosylase 1 gene DOID:630 genetic disease ISO RGD:1606814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957766 Smug1 single-strand-selective monofunctional uracil-DNA glycosylase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8957773 Prm3 protamine 3 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1345034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8957773 Prm3 protamine 3 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1345034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8957773 Prm3 protamine 3 gene DOID:5812 MHC class II deficiency ISO RGD:1345034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8957773 Prm3 protamine 3 gene DOID:630 genetic disease ISO RGD:1345034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957780 Epn2 epsin 2 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1351510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8957780 Epn2 epsin 2 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1351510 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8957780 Epn2 epsin 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1351510 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8957780 Epn2 epsin 2 gene DOID:12849 autistic disorder ISO RGD:1351510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8957780 Epn2 epsin 2 gene DOID:630 genetic disease ISO RGD:1351510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957780 Epn2 epsin 2 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1351510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 8957804 Ca1 carbonic anhydrase 1 gene DOID:0050758 metabolic acidosis ISO RGD:1320302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic acidosis PMID:25741868 8957804 Ca1 carbonic anhydrase 1 gene DOID:10316 pneumoconiosis ISO RGD:1320302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 8957804 Ca1 carbonic anhydrase 1 gene DOID:299 adenocarcinoma ISO RGD:1320302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8957804 Ca1 carbonic anhydrase 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1320302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8957804 Ca1 carbonic anhydrase 1 gene DOID:630 genetic disease ISO RGD:1320302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957804 Ca1 carbonic anhydrase 1 gene DOID:655 inherited metabolic disorder ISO RGD:1320302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase I deficiency | ClinVar Annotator: match by term: Carbonic anhydrase I, Guam PMID:406674|PMID:6781336|PMID:827930 8957804 Ca1 carbonic anhydrase 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320302 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 8957853 Susd2 sushi domain containing 2 gene DOID:1826 epilepsy ISO RGD:1318458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8957853 Susd2 sushi domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1318458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8957853 Susd2 sushi domain containing 2 gene DOID:630 genetic disease ISO RGD:1318458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:0050425 restless legs syndrome ISO RGD:736298 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:21570342|REF_RGD_ID:6483334 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:0112153 hypomyelinating leukodystrophy 20 ISO RGD:736298 D RGD:7240710 20201111 OMIM 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:0112153 hypomyelinating leukodystrophy 20 ISO RGD:736298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 20 PMID:25741868|PMID:32128616 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:10554 meningoencephalitis ISO RGD:736299 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain, cerebrospinal fluid PMID:19592007|REF_RGD_ID:6483338 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:10652 Alzheimer's disease ISO RGD:736299 D RGD:9068941 20200609 RGD PMID:21918687|REF_RGD_ID:6483333 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:13001 carotid stenosis ISO RGD:2368 D RGD:9068941 20200609 RGD PMID:17936728|REF_RGD_ID:6483357 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:14018 alcoholic liver cirrhosis ISO RGD:736298 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:16205370|REF_RGD_ID:6483345 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:2377 multiple sclerosis ISO RGD:736298 D RGD:9068941 20200609 RGD PMID:18676363|PMID:19473295|REF_RGD_ID:6483339|REF_RGD_ID:6483346 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:5419 schizophrenia ISO RGD:736298 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.326A>G (rs2070106) (human) PMID:16389193|REF_RGD_ID:6483344 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:5419 schizophrenia no_association ISO RGD:736298 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.326A>G (rs2070106) (human) PMID:17306456|REF_RGD_ID:6483340 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:5419 schizophrenia susceptibility ISO RGD:736298 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron: (rs1054092) PMID:16891421|REF_RGD_ID:6483343 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:630 genetic disease ISO RGD:736298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:640 encephalomyelitis ISO RGD:736299 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:18466224|REF_RGD_ID:6483347 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9000998 Brain Injuries ISO RGD:2368 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:20215974|REF_RGD_ID:6483336 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2368 D RGD:9068941 20200609 RGD PMID:10650887|PMID:21107918|PMID:7541143|REF_RGD_ID:6483335|REF_RGD_ID:6483351|REF_RGD_ID:6483353 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2368 D RGD:9068941 20200609 RGD PMID:19747899|REF_RGD_ID:6483337 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9004807 Catatonic Schizophrenia ISO RGD:736298 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.326A>G (rs2070106) (human) PMID:22473874|REF_RGD_ID:6483331 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9006289 Myopia 2 ISO RGD:736298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 2, autosomal dominant 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:736298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8957889 Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase gene DOID:9008639 Catatonia ISO RGD:736299 D RGD:9068941 20200609 RGD PMID:22473874|REF_RGD_ID:6483331 8957897 Hpn hepsin gene DOID:0110222 Brugada syndrome 5 ISO RGD:732957 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8957897 Hpn hepsin gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8957897 Hpn hepsin gene DOID:1059 intellectual disability ISO RGD:732957 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8957897 Hpn hepsin gene DOID:543 dystonia ISO RGD:732957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8957897 Hpn hepsin gene DOID:630 genetic disease ISO RGD:732957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957897 Hpn hepsin gene DOID:9002304 Prostatic Neoplasms ISO RGD:732957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422|PMID:16783571 8957897 Hpn hepsin gene DOID:9455 lipid storage disease ISO RGD:732957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414 8957917 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:0060224 atrial fibrillation ISO RGD:1343381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8957917 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:28492532 8957917 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098 8957917 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343381 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8957917 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy severity ISO RGD:1550518 D RGD:9068941 20200609 RGD PMID:22541428|REF_RGD_ID:10044242 8957917 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:3911 progeria severity ISO RGD:1550518 D RGD:9068941 20200609 RGD PMID:22541428|REF_RGD_ID:10044242 8957917 Sun1 Sad1 and UNC84 domain containing 1 gene DOID:630 genetic disease ISO RGD:1343381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8957973 Znf532 zinc finger protein 532 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1323323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 8957973 Znf532 zinc finger protein 532 gene DOID:0111988 immunodeficiency 12 ISO RGD:1323323 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8957973 Znf532 zinc finger protein 532 gene DOID:12849 autistic disorder ISO RGD:1323323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8957973 Znf532 zinc finger protein 532 gene DOID:630 genetic disease ISO RGD:1323323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8957973 Znf532 zinc finger protein 532 gene DOID:9775 diastolic heart failure ISO RGD:1551867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8958006 Zkscan4 zinc finger with KRAB and SCAN domains 4 gene DOID:11372 megacolon ISO RGD:1319105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8958006 Zkscan4 zinc finger with KRAB and SCAN domains 4 gene DOID:5419 schizophrenia ISO RGD:1319105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 8958006 Zkscan4 zinc finger with KRAB and SCAN domains 4 gene DOID:630 genetic disease ISO RGD:1319105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:17143282|PMID:17143285|PMID:17586837|PMID:19953625|PMID:20981092|PMID:23487764|PMID:24033266|PMID:25741868|PMID:28492532 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0050451 Brugada syndrome ISO RGD:1322140 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907801|PMID:29970176 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0050700 cardiomyopathy ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060260 ptosis ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ptosis PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060466 gingival fibromatosis ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gingival fibromatosis PMID:25741868|PMID:28492532 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1322140 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:17143282|PMID:17143285|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20607846|PMID:20673819|PMID:20683980|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:23321623|PMID:23487764|PMID:23665959|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24451042|PMID:24458522|PMID:24803665|PMID:24939586|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25862627|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26607044|PMID:26686981|PMID:26918529|PMID:27236105|PMID:27304678|PMID:28378436|PMID:28492532|PMID:29037749|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29907801|PMID:30266093|PMID:30325180|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31560489|PMID:33128510|PMID:33771761 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060581 Noonan syndrome 3 ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:17143282|PMID:17143285|PMID:17586837|PMID:19020799|PMID:19352411|PMID:20186801|PMID:21274610|PMID:21387466|PMID:21784453|PMID:22190897|PMID:23321623|PMID:23487764|PMID:24033266|PMID:24037001|PMID:25337068|PMID:25741868|PMID:26214590|PMID:26686981|PMID:26918529|PMID:27236105|PMID:28378436|PMID:28492532|PMID:29037749|PMID:29907801|PMID:30266093|PMID:31292302 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060582 Noonan syndrome 4 ISO RGD:1322140 D RGD:7240710 20180130 OMIM 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0060582 Noonan syndrome 4 ISO RGD:1322140 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Noonan syndrome 4 | ClinVar Annotator: match by term: SOS1-related condition PMID:10675333|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26619011|PMID:26686981|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:29970176|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:32981126|PMID:33042901|PMID:33128510|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:34644002|PMID:36110220|PMID:9030684|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:27763634|PMID:28492532 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27763634|PMID:28166811|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30417923|PMID:30784236|PMID:31219622|PMID:31573083|PMID:32603605|PMID:33318624|PMID:34008892|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: RASopathy PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30417923|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31573083|PMID:32603605|PMID:33318624|PMID:34008892|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29146900|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29146900|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:29970176|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29146900|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:29970176|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:36110220|PMID:9030684|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0080690 RASopathy ISO RGD:1322140 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:10675333|PMID:11333268|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17339331|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22253195|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23602711|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26350204|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29146900|PMID:29402968|PMID:29493581|PMID:29554876|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:29970176|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:32981126|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:34644002|PMID:36110220|PMID:9030684|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:27763634|PMID:28492532 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:0110998 Joubert syndrome 3 ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:10283 prostate cancer ISO RGD:1322140 D RGD:9068941 20200609 RGD PMID:19724911|REF_RGD_ID:13506813 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:1059 intellectual disability ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17586837|PMID:21387466|PMID:24939586|PMID:25741868|PMID:28492532 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:28492532 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21340158|PMID:21387466|PMID:22585553|PMID:24033266|PMID:25741868|PMID:26350204|PMID:28492532|PMID:32603605 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:1682 congenital heart disease ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:1882 atrial heart septal defect ISO RGD:1322140 D RGD:9068941 20221027 RGD associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human) PMID:17143285|REF_RGD_ID:11063543 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:2316 brain ischemia ISO RGD:1310949 D RGD:9068941 20221027 RGD PMID:26442853|REF_RGD_ID:155630597 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3490 Noonan syndrome ISO RGD:1322140 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10675333|PMID:11333268|PMID:14551916|PMID:16267129|PMID:17143282|PMID:17143285|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18678287|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19438935|PMID:19953625|PMID:20133692|PMID:20133694|PMID:20186801|PMID:20305546|PMID:20461756|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21779504|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:22848035|PMID:23321623|PMID:23452850|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24270602|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24939586|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:26214590|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26686981|PMID:26689913|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29907801|PMID:30039904|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:31219622|PMID:31292302|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:32603605|PMID:33042901|PMID:33128510|PMID:33318624|PMID:33771761|PMID:34008892|PMID:34163525|PMID:34411415|PMID:9030684 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3526 cerebral infarction ISO RGD:1322140 D RGD:9068941 20221020 RGD mRNA:increased expression:blood (human) PMID:35041140|REF_RGD_ID:155598600 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:363 uterine cancer ISO RGD:1322140 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25741868|PMID:26619011 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3883 Lynch syndrome ISO RGD:1322140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1322140 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:25741868|PMID:26619011 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:4362 cervical cancer ISO RGD:1322140 D RGD:9068941 20200609 RGD mRNA:increased expression:cervix epithelium (human) PMID:27581326|REF_RGD_ID:13441596 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:1322140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17143282|PMID:17143285|PMID:17586837|PMID:19020799|PMID:19077116|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20607846|PMID:20683980|PMID:21387466|PMID:21744363|PMID:21784453|PMID:22420426|PMID:22465605|PMID:23487764|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24803665|PMID:24896146|PMID:25741868|PMID:25862627|PMID:26280111|PMID:26918529|PMID:28492532|PMID:29493581|PMID:30784236|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9001891 Atrial Septal Defect, Secundum Type ISO RGD:1322141 D RGD:9068941 20221027 RGD DNA:missense mutation:CDS:p.E846K (mouse) PMID:21041952|REF_RGD_ID:11064696 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9002182 Cafe au lait Spots, Multiple ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1322140 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907801|PMID:29970176 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003091 Noonan Like Syndrome ISO RGD:1322140 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS PMID:10675333|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17576681|PMID:1758637|PMID:17586837|PMID:18456719|PMID:18651097|PMID:18772396|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:20981092|PMID:21041952|PMID:21340158|PMID:21387466|PMID:21744363|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:23487764|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26280111|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26607044|PMID:26918529|PMID:27153395|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28870985|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:29970176|PMID:30039904|PMID:30050098|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30712878|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32333414|PMID:33042901|PMID:33128510|PMID:33771761|PMID:33848766|PMID:34008892|PMID:34163525|PMID:34411415|PMID:36110220|PMID:9030684|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nuchal bleb, familial PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003873 Gingival Fibromatosis 1 ISO RGD:1322140 D RGD:7240710 20180130 OMIM 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9003873 Gingival Fibromatosis 1 ISO RGD:1322140 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1 PMID:10675333|PMID:11868160|PMID:14551916|PMID:16199547|PMID:16267129|PMID:17143282|PMID:17143285|PMID:17576681|PMID:17586837|PMID:18651097|PMID:18678287|PMID:18854871|PMID:18925667|PMID:18925961|PMID:18972187|PMID:19020799|PMID:19077116|PMID:19352411|PMID:19953625|PMID:20133692|PMID:20186801|PMID:20305546|PMID:20493809|PMID:20607846|PMID:20673819|PMID:20683980|PMID:21041952|PMID:21274610|PMID:21340158|PMID:21387466|PMID:21784453|PMID:22190897|PMID:22420426|PMID:22465605|PMID:22488759|PMID:22494877|PMID:22585553|PMID:22589294|PMID:23321623|PMID:23487764|PMID:23665959|PMID:23673306|PMID:23756559|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24124081|PMID:24451042|PMID:24458522|PMID:24522193|PMID:24803665|PMID:24896146|PMID:25073238|PMID:25337068|PMID:25712082|PMID:25741868|PMID:25802880|PMID:25862627|PMID:25864170|PMID:26214590|PMID:26297936|PMID:26467025|PMID:26580448|PMID:26686981|PMID:26918529|PMID:27153395|PMID:27236105|PMID:27304678|PMID:27418595|PMID:27763634|PMID:28074886|PMID:28378436|PMID:28492532|PMID:28884940|PMID:28957739|PMID:28991257|PMID:29037749|PMID:29074966|PMID:29402968|PMID:29493581|PMID:29625050|PMID:29641532|PMID:29696744|PMID:29752777|PMID:29868112|PMID:29907801|PMID:29970176|PMID:30039904|PMID:30050098|PMID:30266093|PMID:30325180|PMID:30417923|PMID:30541462|PMID:30762279|PMID:30784236|PMID:30838730|PMID:31219622|PMID:31292302|PMID:31368652|PMID:31560489|PMID:31573083|PMID:32059087|PMID:32603605|PMID:33042901|PMID:33848766|PMID:34008892|PMID:34644002|PMID:36110220|PMID:9030684|PMID:9536098 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17586837|PMID:21387466|PMID:24939586|PMID:25741868|PMID:28492532 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1322140 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:19020799|PMID:19953625|PMID:21387466|PMID:21784453|PMID:23487764|PMID:23673306|PMID:24033266|PMID:24803665|PMID:25741868|PMID:25862627|PMID:26918529|PMID:28492532|PMID:29493581|PMID:31292302|PMID:32333414|PMID:34008892|PMID:34163525 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9007096 Stroke ISO RGD:1322140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stroke PMID:24033266|PMID:25741868|PMID:28492532 8958015 Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 gene DOID:9007661 Dwarfism ISO RGD:1322140 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short stature PMID:17143285|PMID:17586837|PMID:20186801|PMID:21387466|PMID:22494877|PMID:23487764|PMID:24033266|PMID:24458522|PMID:25741868|PMID:28492532|PMID:29907801|PMID:30325180|PMID:30784236|PMID:31560489 8958041 Naca nascent polypeptide associated complex subunit alpha gene DOID:0060224 atrial fibrillation ISO RGD:1318533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8958041 Naca nascent polypeptide associated complex subunit alpha gene DOID:630 genetic disease ISO RGD:1318533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958053 Ssmem1 serine rich single-pass membrane protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8958053 Ssmem1 serine rich single-pass membrane protein 1 gene DOID:630 genetic disease ISO RGD:1604235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958069 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320415 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8958069 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:0080789 Treacher Collins syndrome 1 ISO RGD:1320415 D RGD:7240710 20200708 OMIM 8958069 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:0080789 Treacher Collins syndrome 1 ISO RGD:1320415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TCOF1-related condition | ClinVar Annotator: match by term: Treacher Collins syndrome 1 PMID:10982400|PMID:11013442|PMID:12114482|PMID:12444270|PMID:14598341|PMID:15150774|PMID:15214011|PMID:15340364|PMID:16199547|PMID:17576681|PMID:19050407|PMID:20003452|PMID:21951868|PMID:2231797|PMID:22317976|PMID:23967202|PMID:24108658|PMID:24994558|PMID:25741868|PMID:25790162|PMID:26467025|PMID:28065470|PMID:28419064|PMID:28492532|PMID:29230583|PMID:30311386|PMID:31307516|PMID:32257192|PMID:33332773|PMID:8563749|PMID:8894686|PMID:9042910|PMID:9096354|PMID:9536098|PMID:9736782|PMID:9811939 8958069 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:10907 microcephaly ISO RGD:1320415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8958069 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:2339 Crouzon syndrome ISO RGD:1320415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Crouzon syndrome PMID:25741868 8958069 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:2908 Treacher Collins syndrome ISO RGD:1320415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Treacher Collins Syndrome, Dominant | ClinVar Annotator: match by term: Treacher Collins syndrome PMID:22317976|PMID:25741868|PMID:28492532|PMID:8894686 8958069 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:630 genetic disease ISO RGD:1320415 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8958069 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:9004538 Hearing Loss ISO RGD:1320415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 8958069 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320415 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8958069 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1320415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16938878 8958069 Tcof1 treacle ribosome biogenesis factor 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16938878 8958105 Osbpl7 oxysterol binding protein like 7 gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:1319316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:25741868 8958105 Osbpl7 oxysterol binding protein like 7 gene DOID:4947 cholangiocarcinoma ISO RGD:1319316 D RGD:9068941 20210129 RGD mRNA:increased expression:blood PMID:21763455|REF_RGD_ID:41404644 8958105 Osbpl7 oxysterol binding protein like 7 gene DOID:630 genetic disease ISO RGD:1319316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958132 Rhobtb1 Rho related BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1315735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958132 Rhobtb1 Rho related BTB domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1315735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8958151 Gpr68 G protein-coupled receptor 68 gene DOID:0080054 achondrogenesis type IA ISO RGD:1319965 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8958151 Gpr68 G protein-coupled receptor 68 gene DOID:0080600 COVID-19 ISO RGD:1319965 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8958151 Gpr68 G protein-coupled receptor 68 gene DOID:0080960 amelogenesis imperfecta type 2A6 ISO RGD:1319965 D RGD:7240710 20190315 OMIM 8958151 Gpr68 G protein-coupled receptor 68 gene DOID:0080960 amelogenesis imperfecta type 2A6 ISO RGD:1319965 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 PMID:25741868|PMID:27693231 8958151 Gpr68 G protein-coupled receptor 68 gene DOID:2187 amelogenesis imperfecta ISO RGD:1319965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:27693231 8958151 Gpr68 G protein-coupled receptor 68 gene DOID:630 genetic disease ISO RGD:1319965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958151 Gpr68 G protein-coupled receptor 68 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8958185 Stom stomatin gene DOID:630 genetic disease ISO RGD:1312947 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8958196 Znf428 zinc finger protein 428 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1603271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 8958196 Znf428 zinc finger protein 428 gene DOID:5419 schizophrenia ISO RGD:1603271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8958196 Znf428 zinc finger protein 428 gene DOID:630 genetic disease ISO RGD:1603271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958203 Lipe lipase E, hormone sensitive type gene DOID:0050440 familial partial lipodystrophy ISO RGD:737132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8958203 Lipe lipase E, hormone sensitive type gene DOID:0070206 familial partial lipodystrophy type 6 ISO RGD:737132 D RGD:7240710 20180912 OMIM 8958203 Lipe lipase E, hormone sensitive type gene DOID:0070206 familial partial lipodystrophy type 6 ISO RGD:737132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: LIPE-related familial partial lipodystrophy PMID:24375490|PMID:24848981|PMID:25475467|PMID:25741868|PMID:27862896|PMID:28492532|PMID:32041611|PMID:35460704 8958203 Lipe lipase E, hormone sensitive type gene DOID:10763 hypertension ISO RGD:737132 D RGD:9068941 20200609 RGD gestational hypertension;DNA:polymorphism:promoter:-60C>G PMID:17318300|REF_RGD_ID:1625026 8958203 Lipe lipase E, hormone sensitive type gene DOID:114 heart disease ISO RGD:3010 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18413675|REF_RGD_ID:2313583 8958203 Lipe lipase E, hormone sensitive type gene DOID:1339 Diamond-Blackfan anemia ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8958203 Lipe lipase E, hormone sensitive type gene DOID:1342 congenital hypoplastic anemia ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8958203 Lipe lipase E, hormone sensitive type gene DOID:2340 craniosynostosis ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8958203 Lipe lipase E, hormone sensitive type gene DOID:2349 arteriosclerosis ISO RGD:3010 D RGD:9068941 20200609 RGD PMID:10064727|REF_RGD_ID:1581868 8958203 Lipe lipase E, hormone sensitive type gene DOID:2349 arteriosclerosis ISO RGD:737132 D RGD:9068941 20200609 RGD PMID:10729384|REF_RGD_ID:1581867 8958203 Lipe lipase E, hormone sensitive type gene DOID:5419 schizophrenia ISO RGD:737132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8958203 Lipe lipase E, hormone sensitive type gene DOID:630 genetic disease ISO RGD:737132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958203 Lipe lipase E, hormone sensitive type gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8958203 Lipe lipase E, hormone sensitive type gene DOID:9006599 Hypertriglyceridemia ISO RGD:3010 D RGD:9068941 20200609 RGD PMID:11016888|REF_RGD_ID:2313581 8958203 Lipe lipase E, hormone sensitive type gene DOID:9006646 Metabolic Syndrome ISO RGD:10872 D RGD:9068941 20230427 RGD mRNA:increased expression:liver (mouse) PMID:29684438|REF_RGD_ID:329333017 8958203 Lipe lipase E, hormone sensitive type gene DOID:9269 maple syrup urine disease ISO RGD:737132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8958203 Lipe lipase E, hormone sensitive type gene DOID:9352 type 2 diabetes mellitus ISO RGD:737132 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:15609025|REF_RGD_ID:2313584 8958203 Lipe lipase E, hormone sensitive type gene DOID:9970 obesity ISO RGD:3010 D RGD:9068941 20200609 RGD mRNA:decreased expression:white fat PMID:17712951|REF_RGD_ID:2313580 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:0070417 neurodevelopmental disorder with speech impairment and dysmorphic facies ISO RGD:1605414 D RGD:7240710 20201216 OMIM 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:0070417 neurodevelopmental disorder with speech impairment and dysmorphic facies ISO RGD:1605414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and dysmorphic facies | ClinVar Annotator: match by term: SETD1A-related condition PMID:24853937|PMID:25420024|PMID:25741868|PMID:26974950|PMID:32346159|PMID:36672956 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:0070471 early-onset epilepsy 2 ISO RGD:1605414 D RGD:7240710 20200715 OMIM 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:0070471 early-onset epilepsy 2 ISO RGD:1605414 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Epilepsy, early-onset, with or without developmental delay PMID:24853937|PMID:25420024|PMID:25741868|PMID:26974950|PMID:28492532|PMID:29463886|PMID:31197650|PMID:31595951|PMID:32346159 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ISO RGD:1605414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1605414 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:1059 intellectual disability ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1605414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1605414 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:5419 schizophrenia ISO RGD:1605414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:26974950|PMID:28492532|PMID:32346159 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1605414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8958217 Setd1a SET domain containing 1A, histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1605414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8958251 Gas8 growth arrest specific 8 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8958251 Gas8 growth arrest specific 8 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1317230 D RGD:7240710 20190315 OMIM 8958251 Gas8 growth arrest specific 8 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1317230 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26387594|PMID:27120127|PMID:27472056|PMID:28492532|PMID:9536098 8958251 Gas8 growth arrest specific 8 gene DOID:12849 autistic disorder ISO RGD:1317230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8958251 Gas8 growth arrest specific 8 gene DOID:13636 Fanconi anemia ISO RGD:1317230 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8958251 Gas8 growth arrest specific 8 gene DOID:630 genetic disease ISO RGD:1317230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8958251 Gas8 growth arrest specific 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317230 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 8958279 Srgn serglycin gene DOID:630 genetic disease ISO RGD:1346396 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958279 Srgn serglycin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8958310 Nadk NAD kinase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8958310 Nadk NAD kinase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606514 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8958310 Nadk NAD kinase gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8958310 Nadk NAD kinase gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8958310 Nadk NAD kinase gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8958310 Nadk NAD kinase gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8958310 Nadk NAD kinase gene DOID:0111934 immunodeficiency 38 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8958310 Nadk NAD kinase gene DOID:0111935 immunodeficiency 16 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8958310 Nadk NAD kinase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8958310 Nadk NAD kinase gene DOID:630 genetic disease ISO RGD:1606514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958310 Nadk NAD kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8958310 Nadk NAD kinase gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1606514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8958310 Nadk NAD kinase gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606514 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8958331 Skap2 src kinase associated phosphoprotein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8958331 Skap2 src kinase associated phosphoprotein 2 gene DOID:630 genetic disease ISO RGD:1345057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958331 Skap2 src kinase associated phosphoprotein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1345057 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8958354 Trit1 tRNA isopentenyltransferase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1312422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8958354 Trit1 tRNA isopentenyltransferase 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8958354 Trit1 tRNA isopentenyltransferase 1 gene DOID:0111464 combined oxidative phosphorylation deficiency 35 ISO RGD:1312422 D RGD:7240710 20190315 OMIM 8958354 Trit1 tRNA isopentenyltransferase 1 gene DOID:0111464 combined oxidative phosphorylation deficiency 35 ISO RGD:1312422 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 35 | ClinVar Annotator: match by term: TRIT1 Deficiency PMID:24901367|PMID:25741868|PMID:25954003|PMID:26381753|PMID:27618451|PMID:28185376|PMID:28490743|PMID:28492532|PMID:31140736|PMID:32088416|PMID:32324744|PMID:36047296 8958354 Trit1 tRNA isopentenyltransferase 1 gene DOID:630 genetic disease ISO RGD:1312422 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24901367|PMID:25741868|PMID:25954003|PMID:26381753|PMID:27618451|PMID:28185376|PMID:28490743|PMID:28492532|PMID:30977854|PMID:32324744|PMID:36047296 8958354 Trit1 tRNA isopentenyltransferase 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1312422 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:32088416 8958354 Trit1 tRNA isopentenyltransferase 1 gene DOID:9003816 Macrocephaly ISO RGD:1312422 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:30977854|PMID:36047296 8958372 Chdh choline dehydrogenase gene DOID:6000 congestive heart failure ISO RGD:1347167 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8958372 Chdh choline dehydrogenase gene DOID:630 genetic disease ISO RGD:1347167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958384 Pom121l2 POM121 transmembrane nucleoporin like 2 gene DOID:630 genetic disease ISO RGD:1343533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:1303274 D RGD:9068941 20240201 RGD mRNA:increased expression:pituitary gland (rat) PMID:26509893|REF_RGD_ID:11344152 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP: : 39179G>T(human) PMID:19626461|REF_RGD_ID:9589082 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:24625449|REF_RGD_ID:9589120 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:24625449|REF_RGD_ID:9589120 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606037 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32431489 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:0060041 autism spectrum disorder ISO RGD:1606037 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:25290267|PMID:35663546 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:0060918 facioscapulohumeral muscular dystrophy 4 ISO RGD:1606037 D RGD:7240710 20210825 OMIM 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:0060918 facioscapulohumeral muscular dystrophy 4 ISO RGD:1606037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 4, digenic PMID:27153398|PMID:28492532 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:0070168 spermatogenic failure 3 ISO RGD:1606037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:10647011|PMID:11102980|PMID:11919202|PMID:15580563|PMID:25741868|PMID:28492532|PMID:31479588 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome ISO RGD:1606037 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Centromeric instability, immunodeficiency syndrome PMID:25741868|PMID:28492532 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:7240710 20180130 OMIM 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ISO RGD:1606037 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | ClinVar Annotator: match by term: Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 PMID:10555141|PMID:10588719|PMID:10647011|PMID:11038463|PMID:11102980|PMID:11741835|PMID:11919202|PMID:12239717|PMID:12925568|PMID:15580563|PMID:16199547|PMID:16501171|PMID:16543361|PMID:17576681|PMID:17893117|PMID:17908720|PMID:21549127|PMID:21559330|PMID:23486536|PMID:24033266|PMID:24577265|PMID:25741868|PMID:26851945|PMID:27153398|PMID:27479843|PMID:27734333|PMID:28128455|PMID:28454995|PMID:28492532|PMID:28713390|PMID:28916186|PMID:29255178|PMID:29659838|PMID:30010917|PMID:30630233|PMID:31479588|PMID:31686314|PMID:32135276|PMID:32888943|PMID:3361388|PMID:9536098 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:1324 lung cancer disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:24548441|REF_RGD_ID:9588658 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:14654 prostatitis ISO RGD:1303274 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland ventral lobe: PMID:20056826|REF_RGD_ID:9588290 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:1682 congenital heart disease ISO RGD:1303274 D RGD:9068941 20200609 RGD associated with Vitamin A Deficiency; mRNA:decreased expression:heart: PMID:23333085|REF_RGD_ID:9588314 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:2030 anxiety disorder ISO RGD:1303274 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus: PMID:23529784|REF_RGD_ID:9588317 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:2526 prostate adenocarcinoma ISO RGD:1551604 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate gland: PMID:17178860|REF_RGD_ID:2289681 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:288 endometriosis of uterus ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:ectopic endometrium: PMID:22572543|REF_RGD_ID:9588664 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:289 endometriosis ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium: PMID:17081533|REF_RGD_ID:9588669 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:305 carcinoma ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:3275 thymoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD associated with Myasthenia Gravis;DNA:SNP:promoter: -579G>T(human) PMID:24260492|REF_RGD_ID:9589098 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:22919364|REF_RGD_ID:9589121 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:nucleus: PMID:22213175|REF_RGD_ID:9589085 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:promoter:-283T >C,-579G>T(human) PMID:15528220|REF_RGD_ID:9589086 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:5409 lung small cell carcinoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-283T >C,-579G>T(human) PMID:15528220|REF_RGD_ID:9589086 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:5419 schizophrenia susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :(rs6119954),(rs2424908)(human) PMID:19576953|REF_RGD_ID:9589091 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human) PMID:18455294|REF_RGD_ID:9589078 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:612 primary immunodeficiency disease ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17908720 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:630 genetic disease ISO RGD:1606037 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24577265|PMID:25741868|PMID:27479843|PMID:28492532|PMID:31686314 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:6705 gastric body carcinoma ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:20127025|REF_RGD_ID:9589084 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:684 hepatocellular carcinoma ISO RGD:1303274 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:684 hepatocellular carcinoma ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:15885882|REF_RGD_ID:9588598 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-283C>T(human) PMID:19777235|REF_RGD_ID:9589110 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:11222358|REF_RGD_ID:9588667 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:8923 skin melanoma disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:21081840|REF_RGD_ID:9589074 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:decreased expression:mononuclear cell PMID:18683034|REF_RGD_ID:9588662 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP:promoter: -579G>T(human) PMID:23000068|REF_RGD_ID:9589094 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9000081 Lymphatic Metastasis ISO RGD:1606037 D RGD:9068941 20200609 RGD associated with Carcinoma, Pancreatic Ductal; PMID:22919364|REF_RGD_ID:9589121 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9000217 Stomach Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21458988 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606037 D RGD:9068941 20200609 RGD associated with Uterine Cervical Neoplasms; PMID:22330137|REF_RGD_ID:9589117 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9001030 Multiple Primary Neoplasms treatment ISO RGD:1606037 D RGD:9068941 20200609 RGD associated with Head and Neck Neoplasms;DNA:SNP: :149C>T(rs2424913)(human) PMID:22009713|REF_RGD_ID:9589077 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1606037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29255178 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:decreased expression: B cell PMID:15467427|REF_RGD_ID:9589146 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9002231 Fetal Growth Retardation ISO RGD:1303274 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16012746 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9003036 Oral Lichen Planus ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:22236544|REF_RGD_ID:9589075 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9003036 Oral Lichen Planus susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:polymorphism: :C46359T(human) PMID:22236544|REF_RGD_ID:9589075 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix: PMID:22330137|REF_RGD_ID:9589117 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9003373 Uterine Cervical Neoplasms susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP: :46359C>T(human) PMID:23677709|REF_RGD_ID:9589114 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1303274 D RGD:9068941 20200609 RGD PMID:24447120|REF_RGD_ID:9588304 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9007456 Female Infertility ISO RGD:1606037 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34773530 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9007715 Endometrial Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:uterus: PMID:15721400|REF_RGD_ID:9588596 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP: :rs406193(human) PMID:19843671|REF_RGD_ID:9589147 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-579G>T(human) PMID:18662374|REF_RGD_ID:9589079 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008644 Dysmenorrhea ISO RGD:1606037 D RGD:9068941 20200609 RGD protein:increased expression:ectopic endometrium: PMID:22572543|REF_RGD_ID:9588664 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17908720 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9008939 Breast Neoplasms ISO RGD:1606037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221536|PMID:22520950 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:CD34+ bone marrow cells PMID:11222358|REF_RGD_ID:9588667 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1606037 D RGD:9068941 20200609 RGD PMID:23251566|REF_RGD_ID:9589071 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNP:promoter: C>T46359(human) PMID:16194411|REF_RGD_ID:9589108 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1606037 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs1569686,rs2424908, rs6087990, rs6119954(human) PMID:24069326|REF_RGD_ID:9589103 8958392 Dnmt3b DNA methyltransferase 3 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606037 D RGD:9068941 20200609 RGD mRNA:increased expression:CD4+ T cell: PMID:21864931|REF_RGD_ID:9589109 8958426 Phc2 polyhomeotic homolog 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1317380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8958426 Phc2 polyhomeotic homolog 2 gene DOID:630 genetic disease ISO RGD:1317380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958460 Srp19 signal recognition particle 19 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1318204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 8958460 Srp19 signal recognition particle 19 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11257105|PMID:12136240|PMID:14672538|PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8958460 Srp19 signal recognition particle 19 gene DOID:630 genetic disease ISO RGD:1318204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958460 Srp19 signal recognition particle 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8958460 Srp19 signal recognition particle 19 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8958472 Xylt2 xylosyltransferase 2 gene DOID:0080322 polycystic kidney disease ISO RGD:731565 D RGD:9068941 20220825 MouseDO 8958472 Xylt2 xylosyltransferase 2 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:731564 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868 8958472 Xylt2 xylosyltransferase 2 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:731564 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8958472 Xylt2 xylosyltransferase 2 gene DOID:12347 osteogenesis imperfecta ISO RGD:731564 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16571645|PMID:25741868|PMID:28492532 8958472 Xylt2 xylosyltransferase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:731564 D RGD:7240710 20180130 OMIM 8958472 Xylt2 xylosyltransferase 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:731564 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of PMID:16571645|PMID:25741868|PMID:28492532 8958472 Xylt2 xylosyltransferase 2 gene DOID:630 genetic disease ISO RGD:731564 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26027496|PMID:26987875|PMID:28492532 8958472 Xylt2 xylosyltransferase 2 gene DOID:9005347 Spondyloocular Syndrome, Autosomal Recessive ISO RGD:731564 D RGD:7240710 20221109 OMIM 8958472 Xylt2 xylosyltransferase 2 gene DOID:9005347 Spondyloocular Syndrome, Autosomal Recessive ISO RGD:731564 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloocular syndrome, autosomal recessive | ClinVar Annotator: match by term: XYLT2-related condition PMID:16571645|PMID:25741868|PMID:26027496|PMID:28492532|PMID:30496831 8958487 Kiaa1217 KIAA1217 ortholog gene DOID:630 genetic disease ISO RGD:1352431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958550 Tcf24 transcription factor 24 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1602784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:28492532 8958550 Tcf24 transcription factor 24 gene DOID:630 genetic disease ISO RGD:1602784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958562 Ptges3 prostaglandin E synthase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1606321 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8958562 Ptges3 prostaglandin E synthase 3 gene DOID:1612 breast cancer ISO RGD:1606321 D RGD:9068941 20200609 RGD protein:increased expression:breast tumor cell, cytoplasm (human) PMID:20847343|REF_RGD_ID:5688064 8958562 Ptges3 prostaglandin E synthase 3 gene DOID:1936 atherosclerosis ISO RGD:1606321 D RGD:9068941 20200609 RGD protein:decreased expression:mammary arteries (human) PMID:14736553|REF_RGD_ID:5688075 8958562 Ptges3 prostaglandin E synthase 3 gene DOID:3181 oligodendroglioma ISO RGD:1606321 D RGD:9068941 20200609 RGD protein:increased expression:brain cortex, white matter (human) PMID:19347995|REF_RGD_ID:5688067 8958562 Ptges3 prostaglandin E synthase 3 gene DOID:3602 toxic encephalopathy ISO RGD:1606321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29471019 8958562 Ptges3 prostaglandin E synthase 3 gene DOID:630 genetic disease ISO RGD:1606321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958562 Ptges3 prostaglandin E synthase 3 gene DOID:9002211 Hyperalgesia ISO RGD:1561913 D RGD:9068941 20200609 RGD PMID:16192391|REF_RGD_ID:5688057 8958562 Ptges3 prostaglandin E synthase 3 gene DOID:9002457 Experimental Arthritis ISO RGD:1561913 D RGD:9068941 20200609 RGD mRNA:increased expression:paw (rat) PMID:12707354|REF_RGD_ID:2300108 8958571 Cnn2 calponin 2 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1350375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 8958571 Cnn2 calponin 2 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1350375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 8958571 Cnn2 calponin 2 gene DOID:4450 renal cell carcinoma ISO RGD:1350375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8958571 Cnn2 calponin 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:1350375 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8958571 Cnn2 calponin 2 gene DOID:630 genetic disease ISO RGD:1350375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958571 Cnn2 calponin 2 gene DOID:9007098 Pulmonary Atresia ISO RGD:1350375 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 8958627 Iffo2 intermediate filament family orphan 2 gene DOID:0060369 Parkinson's disease 6 ISO RGD:2301100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8958627 Iffo2 intermediate filament family orphan 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:2301100 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8958627 Iffo2 intermediate filament family orphan 2 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:2301100 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8958627 Iffo2 intermediate filament family orphan 2 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:2301100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8958627 Iffo2 intermediate filament family orphan 2 gene DOID:630 genetic disease ISO RGD:2301100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958627 Iffo2 intermediate filament family orphan 2 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:2301100 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:0060071 pre-malignant neoplasm ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:0060390 distal 10q deletion syndrome ISO RGD:735904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.L53L, p.L84F (human) PMID:15885889|REF_RGD_ID:2317672 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:1240 leukemia ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16412662 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:12859 choreatic disease ISO RGD:735904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:32581362 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:1612 breast cancer severity ISO RGD:735904 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:15741301|REF_RGD_ID:2317691 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:1612 breast cancer susceptibility ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.L84F, p.I143V (human) PMID:16014702|REF_RGD_ID:2317675 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:1793 pancreatic cancer ISO RGD:735904 D RGD:9068941 20200609 RGD protein:decreased expression:neuroendocrine tumor (human) PMID:19118063|REF_RGD_ID:2317628 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:14501508|REF_RGD_ID:2317661 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:1909 melanoma ISO RGD:3087 D RGD:9068941 20200609 RGD protein:increased activity:skin tumor (rat) PMID:20182810|REF_RGD_ID:2316960 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:234 colon adenocarcinoma ISO RGD:3087 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon (rat) PMID:16886601|REF_RGD_ID:1599637 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:2893 cervix carcinoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.I143V, p.K178R (human) PMID:17234722|REF_RGD_ID:2317690 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:2999 granulosa cell tumor ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:14970867|REF_RGD_ID:2317693 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3068 glioblastoma ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20131314|PMID:22162573 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3068 glioblastoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:transition:cds:p.L84F (human) PMID:14669534|REF_RGD_ID:2317667 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3070 high grade glioma ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033832|PMID:16899598|PMID:19901110 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3181 oligodendroglioma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:15455350|REF_RGD_ID:2317688 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735904 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:ductal adenocarcinoma (human) PMID:9393761|REF_RGD_ID:2317664 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3587 pancreatic ductal carcinoma susceptibility ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L84F rs12917 (human) PMID:16844323|REF_RGD_ID:2317648 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25520135 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:735904 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus PMID:21674174|REF_RGD_ID:126790574 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:4947 cholangiocarcinoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:17550320|REF_RGD_ID:2317632 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:5577 gastrinoma ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter (human) PMID:17278096|REF_RGD_ID:2317340 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:630 genetic disease ISO RGD:735904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:768 retinoblastoma disease_progression ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:15799820|REF_RGD_ID:2317684 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:735904 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:18158568|REF_RGD_ID:2317637 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9000011 Gallbladder Neoplasms resistance ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:transition:exon:EX5-25C>T rs12917 (human) PMID:18708406|REF_RGD_ID:2317636 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9002801 Recurrence ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20131314 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9002936 Bile Duct Neoplasms severity ISO RGD:735904 D RGD:9068941 20200609 RGD protein:decreased expression:carcinoma of extrahepatic bile duct (human) PMID:11986189|REF_RGD_ID:2317662 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9004207 Testicular Neoplasms ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12483540|REF_RGD_ID:2317686 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9005749 Necrosis ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21619552 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26410583 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9007364 Mouth Neoplasms ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24991542 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9007502 Brain Neoplasms ISO RGD:735904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20131314 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9007502 Brain Neoplasms ISO RGD:735904 D RGD:9068941 20200609 RGD associated with Neoplasm Metastasis; DNA:hypermethylation:promoter (human) PMID:19274096|REF_RGD_ID:2317681 8958645 Mgmt O-6-methylguanine-DNA methyltransferase gene DOID:9007787 Carcinoid Tumor ISO RGD:735904 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12584572|REF_RGD_ID:2317635 8958663 Mettl23 methyltransferase 23, arginine gene DOID:0081208 autosomal recessive intellectual developmental disorder 44 ISO RGD:2298732 D RGD:7240710 20180130 OMIM 8958663 Mettl23 methyltransferase 23, arginine gene DOID:0081208 autosomal recessive intellectual developmental disorder 44 ISO RGD:2298732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 44 PMID:24501276|PMID:24626631|PMID:25741868|PMID:28492532|PMID:32067349|PMID:32439618|PMID:32860008 8958663 Mettl23 methyltransferase 23, arginine gene DOID:1059 intellectual disability ISO RGD:2298732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24626631 8958663 Mettl23 methyltransferase 23, arginine gene DOID:1686 glaucoma ISO RGD:1314817 D RGD:9068941 20221215 MouseDO 8958663 Mettl23 methyltransferase 23, arginine gene DOID:630 genetic disease ISO RGD:2298732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24501276|PMID:24626631|PMID:25741868|PMID:28492532|PMID:32860008 8958736 Fbxo3 F-box protein 3 gene DOID:1059 intellectual disability ISO RGD:1314921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8958736 Fbxo3 F-box protein 3 gene DOID:630 genetic disease ISO RGD:1314921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958761 Rnf145 ring finger protein 145 gene DOID:630 genetic disease ISO RGD:1602832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958786 Dsn1 DSN1 component of MIS12 kinetochore complex gene DOID:2234 focal epilepsy ISO RGD:1353084 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8958786 Dsn1 DSN1 component of MIS12 kinetochore complex gene DOID:630 genetic disease ISO RGD:1353084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958786 Dsn1 DSN1 component of MIS12 kinetochore complex gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1353084 D RGD:9068941 20200609 RGD PMID:30136646|REF_RGD_ID:27372884 8958786 Dsn1 DSN1 component of MIS12 kinetochore complex gene DOID:9256 colorectal cancer disease_progression ISO RGD:1353084 D RGD:9068941 20200609 RGD PMID:27329586|REF_RGD_ID:27372885 8958808 Ulk1 unc-51 like autophagy activating kinase 1 gene DOID:0080178 mucositis treatment ISO RGD:1589743 D RGD:9068941 20200609 RGD PMID:25732242|REF_RGD_ID:13208871 8958808 Ulk1 unc-51 like autophagy activating kinase 1 gene DOID:630 genetic disease ISO RGD:1344835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958808 Ulk1 unc-51 like autophagy activating kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1589743 D RGD:9068941 20200609 RGD protein:increased expression:neuron, axon PMID:25040536|REF_RGD_ID:11553820 8958808 Ulk1 unc-51 like autophagy activating kinase 1 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:1589743 D RGD:9068941 20200609 RGD PMID:23589102|REF_RGD_ID:11561955 8958847 Usf1 upstream transcription factor 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8958847 Usf1 upstream transcription factor 1 gene DOID:1287 cardiovascular system disease ISO RGD:733910 D RGD:9068941 20200609 RGD PMID:16699592|REF_RGD_ID:1580805 8958847 Usf1 upstream transcription factor 1 gene DOID:13809 familial combined hyperlipidemia ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to PMID:14991056|PMID:16076849 8958847 Usf1 upstream transcription factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8958847 Usf1 upstream transcription factor 1 gene DOID:630 genetic disease ISO RGD:733910 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320 8958847 Usf1 upstream transcription factor 1 gene DOID:9005097 Hyperlipidemia, Combined, 1 susceptibility ISO RGD:733910 D RGD:7240710 20190502 OMIM 8958847 Usf1 upstream transcription factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8958847 Usf1 upstream transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733910 D RGD:9068941 20200609 RGD DNA:SNP: :rs2073658 (human) PMID:18445538|REF_RGD_ID:2313793 8958847 Usf1 upstream transcription factor 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733910 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr:multiple (human) PMID:16186412|REF_RGD_ID:2313794 8958847 Usf1 upstream transcription factor 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:733910 D RGD:9068941 20200609 RGD DNA:SNP: :rs3737787 (human) PMID:18593823|REF_RGD_ID:2313792 8958866 Tmem176b transmembrane protein 176B gene DOID:2843 long QT syndrome ISO RGD:1606306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 8958866 Tmem176b transmembrane protein 176B gene DOID:630 genetic disease ISO RGD:1606306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050471 Carney complex ISO RGD:735732 D RGD:7240710 20180130 OMIM 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050471 Carney complex ISO RGD:735732 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CARNEY MYXOMA-ENDOCRINE COMPLEX | ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 | ClinVar Annotator: match by term: Myxoma, spotty pigmentation, and endocrine overactivity PMID:10973256|PMID:10974026|PMID:11115848|PMID:12213893|PMID:12424709|PMID:12950501|PMID:15371594|PMID:15992699|PMID:16199547|PMID:16569736|PMID:17396442|PMID:17576681|PMID:18056771|PMID:18223213|PMID:18241045|PMID:18445140|PMID:19265501|PMID:19293268|PMID:19539840|PMID:20358582|PMID:20924687|PMID:21047926|PMID:21651393|PMID:21850686|PMID:21900385|PMID:22112814|PMID:22259056|PMID:22341669|PMID:22464250|PMID:22464252|PMID:22723333|PMID:22785148|PMID:23043190|PMID:23425300|PMID:23942052|PMID:24033266|PMID:24170103|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26354069|PMID:26405036|PMID:26822237|PMID:27589370|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28255981|PMID:28492532|PMID:28640241|PMID:28804209|PMID:29264456|PMID:30426508|PMID:32191290|PMID:32287321|PMID:32443704|PMID:34313605|PMID:35586626|PMID:9536098 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15521956 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26822237|PMID:28492532 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0060280 primary pigmented nodular adrenocortical disease ISO RGD:735733 D RGD:9068941 20220825 MouseDO OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17712046 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0080074 neural tube defect ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0110066 amelogenesis imperfecta type 1G ISO RGD:735732 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G PMID:21990045|PMID:23434854|PMID:23468644|PMID:24196488|PMID:25741868|PMID:28492532|PMID:32246227 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:0110081 arrhythmogenic right ventricular dysplasia 10 ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:25741868 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:14669 acrodysostosis ISO RGD:735732 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acrodysostosis | ClinVar Annotator: match by term: Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome PMID:11115848|PMID:15371594|PMID:18241045|PMID:19293268|PMID:21651393|PMID:22464250|PMID:22785148|PMID:23043190|PMID:23942052|PMID:25637381|PMID:25741868|PMID:26405036|PMID:27589370|PMID:28492532|PMID:28804209|PMID:34313605 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:735733 D RGD:9068941 20220825 MouseDO OMIM:188470 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:4195 hyperglycemia ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:735732 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:15521956 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:630 genetic disease ISO RGD:735732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:767 muscular atrophy ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9001451 Acrodysostosis 1, with or without Hormone Resistance ISO RGD:735732 D RGD:7240710 20180130 OMIM 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9001451 Acrodysostosis 1, with or without Hormone Resistance ISO RGD:735732 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance PMID:11115848|PMID:11200992|PMID:15371594|PMID:18241045|PMID:19293268|PMID:21651393|PMID:22464250|PMID:22464252|PMID:22785148|PMID:23043190|PMID:23425300|PMID:23942052|PMID:25637381|PMID:25741868|PMID:26405036|PMID:27589370|PMID:28051113|PMID:28492532|PMID:28804209|PMID:29264456|PMID:32443704|PMID:34313605 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9003253 Myxoma ISO RGD:735732 D RGD:9068941 20200609 RGD PMID:10973256|REF_RGD_ID:1581267 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005158 Cushing Syndrome ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15521956|PMID:29367455 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005158 Cushing Syndrome ISO RGD:735732 D RGD:9068941 20200609 RGD PMID:12213893|REF_RGD_ID:1581269 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005209 Usher Syndrome Type 4 ISO RGD:735732 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 4 PMID:28492532|PMID:33300174|PMID:35226187|PMID:36317447 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005321 Primary Pigmented Nodular Adrenocortical Disease, 1 ISO RGD:735732 D RGD:7240710 20180130 OMIM 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005321 Primary Pigmented Nodular Adrenocortical Disease, 1 ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 1 PMID:12213893|PMID:17576681|PMID:21651393|PMID:22464250|PMID:23043190|PMID:25741868|PMID:26405036|PMID:27589370|PMID:28492532|PMID:28804209|PMID:9536098 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9005582 Adrenal Cortex Neoplasms ISO RGD:735732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortical tumor, somatic PMID:12203783|PMID:14500362 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735732 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15371594|PMID:17576681|PMID:18241045|PMID:18445140|PMID:20358582|PMID:23942052|PMID:25637381|PMID:25741868|PMID:26822237|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28492532|PMID:29264456|PMID:32287321|PMID:32443704|PMID:9536098 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735732 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15371594|PMID:17576681|PMID:18241045|PMID:18445140|PMID:20358582|PMID:23942052|PMID:25637381|PMID:25741868|PMID:26822237|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28492532|PMID:29264456|PMID:32287321|PMID:32443704|PMID:35586626|PMID:9536098 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735732 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15371594|PMID:17576681|PMID:18241045|PMID:18445140|PMID:20358582|PMID:23942052|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26822237|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28492532|PMID:29264456|PMID:32287321|PMID:32443704|PMID:34313605|PMID:35586626|PMID:9536098 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735732 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15371594|PMID:17576681|PMID:18241045|PMID:18445140|PMID:20358582|PMID:23942052|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26822237|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28492532|PMID:29264456|PMID:30426508|PMID:32287321|PMID:32443704|PMID:34313605|PMID:35586626|PMID:9536098 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735732 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15371594|PMID:17576681|PMID:18241045|PMID:18445140|PMID:20358582|PMID:23942052|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26822237|PMID:27825928|PMID:27930734|PMID:28051113|PMID:28492532|PMID:29264456|PMID:30426508|PMID:32191290|PMID:32287321|PMID:32443704|PMID:34313605|PMID:35586626|PMID:9536098 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007692 Insulin Resistance ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007814 Familial Atrial Myxoma ISO RGD:735732 D RGD:7240710 20180130 OMIM 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9007814 Familial Atrial Myxoma ISO RGD:735732 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial atrial myxoma PMID:10973256|PMID:1263542|PMID:25741868|PMID:28492532 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:987 alopecia ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 8958879 Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha gene DOID:9970 obesity ISO RGD:735732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29367455 8958893 Cfap157 cilia and flagella associated protein 157 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8958893 Cfap157 cilia and flagella associated protein 157 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8958893 Cfap157 cilia and flagella associated protein 157 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1343575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8958893 Cfap157 cilia and flagella associated protein 157 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1343575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8958893 Cfap157 cilia and flagella associated protein 157 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343575 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8958893 Cfap157 cilia and flagella associated protein 157 gene DOID:630 genetic disease ISO RGD:1343575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958915 Cbfa2t2 CBFA2/RUNX1 partner transcriptional co-repressor 2 gene DOID:2843 long QT syndrome ISO RGD:1319231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8958915 Cbfa2t2 CBFA2/RUNX1 partner transcriptional co-repressor 2 gene DOID:630 genetic disease ISO RGD:1319231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958932 Rgmb repulsive guidance molecule BMP co-receptor b gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8958932 Rgmb repulsive guidance molecule BMP co-receptor b gene DOID:630 genetic disease ISO RGD:1350725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958932 Rgmb repulsive guidance molecule BMP co-receptor b gene DOID:7148 rheumatoid arthritis ISO RGD:1350725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 8958932 Rgmb repulsive guidance molecule BMP co-receptor b gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8958932 Rgmb repulsive guidance molecule BMP co-receptor b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8958932 Rgmb repulsive guidance molecule BMP co-receptor b gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8958946 Zbtb25 zinc finger and BTB domain containing 25 gene DOID:627 severe combined immunodeficiency ISO RGD:1344853 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 8958946 Zbtb25 zinc finger and BTB domain containing 25 gene DOID:630 genetic disease ISO RGD:1344853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8958963 PTPRB protein tyrosine phosphatase receptor type B gene DOID:0080199 colorectal carcinoma ISO RGD:1314242 D RGD:9068941 20220303 RGD associated with metastasis; human cells in mouse model PMID:31040266|REF_RGD_ID:151361283 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24633157 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:9068941 20220303 RGD DNA:mutations:multiple (human) PMID:24633157|REF_RGD_ID:151361292 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:0001816 angiosarcoma ISO RGD:1314242 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:26440310|REF_RGD_ID:151665099 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:0060108 brain glioma ISO RGD:1314242 D RGD:9068941 20220310 RGD human cell in mouse model PMID:16923162|REF_RGD_ID:151660368 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:0060108 brain glioma ISO RGD:1314242 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:33900414|REF_RGD_ID:151660356 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:1115 sarcoma treatment ISO RGD:1314242 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:14400 capillary leak syndrome treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD mouse tumor cells in mouse recipient PMID:31348125|REF_RGD_ID:151660353 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:3068 glioblastoma ISO RGD:1314242 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:14692702|PMID:15831233|REF_RGD_ID:151660507|REF_RGD_ID:151664746 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:3068 glioblastoma treatment ISO RGD:1314242 D RGD:9068941 20220310 RGD human cells in mouse model PMID:16489031|REF_RGD_ID:151660504 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:3307 teratoma ISO RGD:1552328 D RGD:9068941 20220310 RGD PMID:23575676|REF_RGD_ID:151660354 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:3347 osteosarcoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:bone (human) PMID:31829261|REF_RGD_ID:151361289 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1314242 D RGD:9068941 20220303 RGD human cells in mouse model PMID:27314562|REF_RGD_ID:151361281 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:27314562|REF_RGD_ID:151361281 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:3910 lung adenocarcinoma ISO RGD:1314242 D RGD:9068941 20220310 RGD mRNA:decreased expression:lung (human) PMID:7981622|REF_RGD_ID:151665112 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220310 RGD mRNA:altered expression:lung (human) PMID:29254206|REF_RGD_ID:151665107 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1314242 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:4511 breast angiosarcoma ISO RGD:1314242 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:32123305|REF_RGD_ID:151665102 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:630 genetic disease ISO RGD:1314242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:liver (human) PMID:30237408|REF_RGD_ID:151361293 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD PMID:23899555|REF_RGD_ID:151660352 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:1314242 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:25105010|REF_RGD_ID:151660336 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:9006618 Liver Metastasis treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD mouse tumor cells in mouse recipient PMID:31348125|REF_RGD_ID:151660353 8958963 Ptprb protein tyrosine phosphatase receptor type B gene DOID:9009121 lung metastasis treatment ISO RGD:1552328 D RGD:9068941 20220310 RGD PMID:23899555|REF_RGD_ID:151660352 8959018 Dipk2b divergent protein kinase domain 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1343794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21264219|PMID:21283809 8959018 Dipk2b divergent protein kinase domain 2B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8959018 Dipk2b divergent protein kinase domain 2B gene DOID:12849 autistic disorder ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8959018 Dipk2b divergent protein kinase domain 2B gene DOID:2256 osteochondrodysplasia ISO RGD:1343794 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 8959018 Dipk2b divergent protein kinase domain 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1343794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8959018 Dipk2b divergent protein kinase domain 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8959018 Dipk2b divergent protein kinase domain 2B gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1343794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21264219 8959018 Dipk2b divergent protein kinase domain 2B gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 8959030 Ccdc102a coiled-coil domain containing 102A gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8959030 Ccdc102a coiled-coil domain containing 102A gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8959030 Ccdc102a coiled-coil domain containing 102A gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8959030 Ccdc102a coiled-coil domain containing 102A gene DOID:630 genetic disease ISO RGD:1605307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959045 Luc7l3 LUC7 like 3 pre-mRNA splicing factor gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1604358 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8959045 Luc7l3 LUC7 like 3 pre-mRNA splicing factor gene DOID:630 genetic disease ISO RGD:1604358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:0060879 primary hypomagnesemia ISO RGD:1342669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11062458 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1342669 D RGD:7240710 20180130 OMIM 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:0060885 renal hypomagnesemia 2 ISO RGD:1342669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant | ClinVar Annotator: match by term: Renal hypomagnesemia 2 PMID:11062458|PMID:11929868|PMID:12763860|PMID:17576681|PMID:25741868|PMID:25765846|PMID:28492532|PMID:3298795|PMID:9536098 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:0080690 RASopathy ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:0111123 nephronophthisis 15 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1342669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:1059 intellectual disability ISO RGD:1342669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:10763 hypertension ISO RGD:1342669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:630 genetic disease ISO RGD:1342669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342669 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1342669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8959072 Fxyd2 FXYD domain containing ion transport regulator 2 gene DOID:9007661 Dwarfism ISO RGD:1342669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8959091 Usp21 ubiquitin specific peptidase 21 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8959091 Usp21 ubiquitin specific peptidase 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1349681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8959091 Usp21 ubiquitin specific peptidase 21 gene DOID:4346 variegate porphyria ISO RGD:1349681 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Variegate porphyria PMID:25741868 8959091 Usp21 ubiquitin specific peptidase 21 gene DOID:630 genetic disease ISO RGD:1349681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959091 Usp21 ubiquitin specific peptidase 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8959118 Fam204a family with sequence similarity 204 member A gene DOID:630 genetic disease ISO RGD:1313564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959132 Tfap2d transcription factor AP-2 delta gene DOID:630 genetic disease ISO RGD:1347905 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959144 Pate2 prostate and testis expressed 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8959144 Pate2 prostate and testis expressed 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8959144 Pate2 prostate and testis expressed 2 gene DOID:5419 schizophrenia ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8959144 Pate2 prostate and testis expressed 2 gene DOID:630 genetic disease ISO RGD:1602157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959144 Pate2 prostate and testis expressed 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8959144 Pate2 prostate and testis expressed 2 gene DOID:9007661 Dwarfism ISO RGD:1602157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8959158 Pspc1 paraspeckle component 1 gene DOID:630 genetic disease ISO RGD:1320843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959169 Daam1 dishevelled associated activator of morphogenesis 1 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1312963 D RGD:9068941 20220825 MouseDO 8959169 Daam1 dishevelled associated activator of morphogenesis 1 gene DOID:1826 epilepsy ISO RGD:1346826 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8959169 Daam1 dishevelled associated activator of morphogenesis 1 gene DOID:630 genetic disease ISO RGD:1346826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8959217 Dynlt4 dynein light chain Tctex-type 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8959217 Dynlt4 dynein light chain Tctex-type 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8959217 Dynlt4 dynein light chain Tctex-type 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8959217 Dynlt4 dynein light chain Tctex-type 4 gene DOID:630 genetic disease ISO RGD:1606104 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959217 Dynlt4 dynein light chain Tctex-type 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606104 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 8959231 Large2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1605885 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8959231 Large2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1605885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8959231 Large2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1605885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8959231 Large2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:630 genetic disease ISO RGD:1605885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959231 Large2 LARGE xylosyl- and glucuronyltransferase 2 gene DOID:905 Zellweger syndrome ISO RGD:1605885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8959254 Slc39a6 solute carrier family 39 member 6 gene DOID:1059 intellectual disability ISO RGD:1312236 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8959254 Slc39a6 solute carrier family 39 member 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1312236 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23644492 8959254 Slc39a6 solute carrier family 39 member 6 gene DOID:630 genetic disease ISO RGD:1312236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959254 Slc39a6 solute carrier family 39 member 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12839489 8959254 Slc39a6 solute carrier family 39 member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8959254 Slc39a6 solute carrier family 39 member 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1312236 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12839489 8959268 Rassf2 Ras association domain family member 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1313644 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8959268 Rassf2 Ras association domain family member 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1313644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8959268 Rassf2 Ras association domain family member 2 gene DOID:630 genetic disease ISO RGD:1313644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959268 Rassf2 Ras association domain family member 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1313644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013896 8959268 Rassf2 Ras association domain family member 2 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1313644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013896 8959293 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1349198 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 8959293 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:0080417 developmental and epileptic encephalopathy 38 ISO RGD:1349198 D RGD:7240710 20190315 OMIM 8959293 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:0080417 developmental and epileptic encephalopathy 38 ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38 PMID:25558065|PMID:25741868|PMID:27270415|PMID:28492532|PMID:32165008 8959293 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:1432 blindness ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:25558065|PMID:25741868|PMID:27270415 8959293 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:1540 parathyroid carcinoma ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8959293 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:630 genetic disease ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32165008 8959293 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:9006534 Nervous System Malformations ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25558065|PMID:25741868|PMID:27270415 8959293 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1349198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8959293 Arv1 ARV1 homolog, fatty acid homeostasis modulator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8959305 Perm1 PPARGC1 and ESRR induced regulator, muscle 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606208 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8959319 Il17f interleukin 17F gene DOID:630 genetic disease ISO RGD:1322840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8959319 Il17f interleukin 17F gene DOID:9002129 Candidiasis, Familial, 6 ISO RGD:1322840 D RGD:7240710 20180130 OMIM 8959319 Il17f interleukin 17F gene DOID:9002129 Candidiasis, Familial, 6 ISO RGD:1322840 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 6 PMID:17576681|PMID:21350122|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30290665|PMID:32185379|PMID:34587561|PMID:35753512|PMID:35874679|PMID:9536098 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:0050700 cardiomyopathy ISO RGD:2721 D RGD:9068941 20200609 RGD mRNA:decreased expression:myocardium (rat) PMID:20733562|REF_RGD_ID:13504856 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:10675 D RGD:9068941 20200609 RGD PMID:21361730|REF_RGD_ID:13504855 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2721 D RGD:9068941 20200609 RGD PMID:20145654|REF_RGD_ID:13504854 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:735827 D RGD:9068941 20200609 RGD human protein in a rat model PMID:24407245|REF_RGD_ID:13504852 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:735827 D RGD:9068941 20200609 RGD human protein in a rat model PMID:26113413|REF_RGD_ID:13506239 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:3498 pancreatic ductal adenocarcinoma treatment ISO RGD:735827 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:23535601|REF_RGD_ID:13504844 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:630 genetic disease ISO RGD:735827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:2721 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:25581610|REF_RGD_ID:13504847 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9006008 Closed Head Injuries ISO RGD:735827 D RGD:9068941 20200609 RGD human protein in a rat model PMID:17014847|REF_RGD_ID:13504858 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:2721 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:19823174|REF_RGD_ID:4145499 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9007480 Hyperoxia ISO RGD:2721 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:20049628|REF_RGD_ID:13504857 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9007956 Febrile Seizures ISO RGD:2721 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:24373994|REF_RGD_ID:13504853 8959376 Got1 glutamic-oxaloacetic transaminase 1 gene DOID:9120 amyloidosis treatment ISO RGD:735827 D RGD:9068941 20200609 RGD human protein in a rat model PMID:28390893|REF_RGD_ID:13504835 8959395 Ccdc15 coiled-coil domain containing 15 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8959395 Ccdc15 coiled-coil domain containing 15 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8959395 Ccdc15 coiled-coil domain containing 15 gene DOID:5419 schizophrenia ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8959395 Ccdc15 coiled-coil domain containing 15 gene DOID:630 genetic disease ISO RGD:1605034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959395 Ccdc15 coiled-coil domain containing 15 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8959395 Ccdc15 coiled-coil domain containing 15 gene DOID:9007661 Dwarfism ISO RGD:1605034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8959421 Fxr1 FMR1 autosomal homolog 1 gene DOID:0060249 scoliosis ISO RGD:1323342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25741868 8959421 Fxr1 FMR1 autosomal homolog 1 gene DOID:0080991 congenital myopathy 1B ISO RGD:1323342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868|PMID:30770808 8959421 Fxr1 FMR1 autosomal homolog 1 gene DOID:0081337 congenital myopathy ISO RGD:1323342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:25741868 8959421 Fxr1 FMR1 autosomal homolog 1 gene DOID:0081343 congenital myopathy 9A ISO RGD:1323342 D RGD:7240710 20200805 OMIM 8959421 Fxr1 FMR1 autosomal homolog 1 gene DOID:0081343 congenital myopathy 9A ISO RGD:1323342 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with respiratory insufficiency and bone fractures PMID:25741868|PMID:28492532|PMID:30770808 8959421 Fxr1 FMR1 autosomal homolog 1 gene DOID:0081344 congenital myopathy 9B ISO RGD:1323342 D RGD:7240710 20200520 OMIM 8959421 Fxr1 FMR1 autosomal homolog 1 gene DOID:0081344 congenital myopathy 9B ISO RGD:1323342 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, congenital proximal, with minicore lesions PMID:25741868|PMID:30770808|PMID:35393337 8959421 Fxr1 FMR1 autosomal homolog 1 gene DOID:0110000 3-methylglutaconic aciduria type 5 ISO RGD:1323342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 PMID:16055927|PMID:27928778|PMID:28492532 8959421 Fxr1 FMR1 autosomal homolog 1 gene DOID:0111546 Currarino syndrome ISO RGD:1323342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8959421 Fxr1 FMR1 autosomal homolog 1 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1323342 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 8959421 Fxr1 FMR1 autosomal homolog 1 gene DOID:1059 intellectual disability ISO RGD:1323342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8959421 Fxr1 FMR1 autosomal homolog 1 gene DOID:630 genetic disease ISO RGD:1323342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:28492532|PMID:32376792 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0050690 brachyolmia ISO RGD:1604803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brachyolmia | ClinVar Annotator: match by term: Brachyrachia PMID:18587396|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:34529350|PMID:4056805|PMID:8179305 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0060197 juvenile amyotrophic lateral sclerosis 5 ISO RGD:1604803 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 PMID:28492532 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0080001 bone disease ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21964574|PMID:22187434 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:28492532 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1604803 D RGD:7240710 20180711 OMIM 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1604803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 2 C PMID:10463355|PMID:11891693|PMID:12884428|PMID:14755468|PMID:1520078|PMID:15668982|PMID:16199547|PMID:17576681|PMID:17879966|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:2128891|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:21964829|PMID:22065612|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22675077|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:23306656|PMID:24319099|PMID:24342753|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24830047|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25363768|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26046366|PMID:26048687|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27066566|PMID:27330106|PMID:27549087|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29770609|PMID:29776788|PMID:29858556|PMID:30214761|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31041394|PMID:31191204|PMID:31407473|PMID:31468327|PMID:31475037|PMID:32028661|PMID:32376792|PMID:32381727|PMID:32579787|PMID:33060286|PMID:33303739|PMID:33908178|PMID:34008892|PMID:34529350|PMID:4056805|PMID:6628444|PMID:8179305|PMID:9536098|PMID:956253 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0110555 autosomal dominant nonsyndromic deafness 25 ISO RGD:735797 D RGD:9068941 20220825 MouseDO OMIM:605583 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant PMID:10463355|PMID:1520078|PMID:15668982|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21115951|PMID:21288981|PMID:21454511|PMID:22065612|PMID:22291064|PMID:22526352|PMID:22702953|PMID:24319099|PMID:24789864|PMID:25741868|PMID:26048687|PMID:26467025|PMID:26948711|PMID:28492532|PMID:31041394|PMID:31191204|PMID:31468327|PMID:32579787|PMID:8179305 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:1604803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:20037586|PMID:20037587|PMID:20037588|PMID:20460441|PMID:21336783|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28492532 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 ISO RGD:1604803 D RGD:7240710 20180130 OMIM 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 ISO RGD:1604803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8 PMID:10463355|PMID:15668982|PMID:17879966|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:22065612|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22675077|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27549087|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31041394|PMID:31191204|PMID:31475037|PMID:32376792|PMID:32381727|PMID:32579787|PMID:33060286|PMID:34008892|PMID:4056805|PMID:8179305 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ISO RGD:1604803 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA PMID:25326637|PMID:25741868|PMID:28492532 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111514 metatropic dysplasia ISO RGD:1604803 D RGD:7240710 20180130 OMIM 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111514 metatropic dysplasia ISO RGD:1604803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia PMID:14755468|PMID:17879966|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:21964829|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24575025|PMID:24789864|PMID:24830047|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27530454|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:32381727|PMID:34008892|PMID:34529350|PMID:4056805|PMID:6628444|PMID:8179305 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111539 parastremmatic dwarfism ISO RGD:1604803 D RGD:7240710 20180130 OMIM 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111539 parastremmatic dwarfism ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parastremmatic dwarfism PMID:14755468|PMID:17879966|PMID:19232556|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28687525|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:32381727|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111552 scapuloperoneal spinal muscular atrophy ISO RGD:1604803 D RGD:7240710 20180130 OMIM 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111552 scapuloperoneal spinal muscular atrophy ISO RGD:1604803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Amyotrophy, neurogenic scapuloperoneal, New England type | ClinVar Annotator: match by term: Scapuloperoneal Form of Spinal Muscular Atrophy | ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy PMID:1520078|PMID:15668982|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22065612|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31041394|PMID:31191204|PMID:31468327|PMID:31475037|PMID:32376792|PMID:32579787|PMID:34529350|PMID:4056805|PMID:8179305 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type ISO RGD:1604803 D RGD:7240710 20180130 OMIM 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type ISO RGD:1604803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PSEUDO-MORQUIO SYNDROME, TYPE 2 | ClinVar Annotator: match by term: SED, Maroteaux type | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type PMID:12884428|PMID:14755468|PMID:17879966|PMID:19232556|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:34529350|PMID:4056805|PMID:6628444|PMID:8179305 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111554 spondylometaphyseal dysplasia Kozlowski type ISO RGD:1604803 D RGD:7240710 20180130 OMIM 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0111554 spondylometaphyseal dysplasia Kozlowski type ISO RGD:1604803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SMD Kozlowski type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Kozlowski type PMID:10463355|PMID:14755468|PMID:17879966|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25741868|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:32381727|PMID:34008892|PMID:34529350|PMID:4056805|PMID:6628444|PMID:8179305 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:0112295 spondylometaphyseal dysplasia ISO RGD:1604803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia PMID:28492532 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29770609|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:16199547|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21270786|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:25974703|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29770609|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1604803 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10463355|PMID:11891693|PMID:14755468|PMID:1520078|PMID:16199547|PMID:18587396|PMID:19232556|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:2128891|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26048687|PMID:26110311|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29770609|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31468327|PMID:32376792|PMID:4056805|PMID:8179305|PMID:956253 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:11836 clubfoot ISO RGD:1604803 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:20037587|PMID:20037588|PMID:2128891|PMID:21288981|PMID:21454511|PMID:24319099|PMID:24789864|PMID:25741868|PMID:28492532 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:12377 spinal muscular atrophy ISO RGD:1604803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:20037586|PMID:20037587|PMID:20037588|PMID:20460441|PMID:21336783|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:2256 osteochondrodysplasia ISO RGD:1604803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10463355|PMID:12884428|PMID:14755468|PMID:17879966|PMID:18587396|PMID:19232556|PMID:20037588|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21573172|PMID:21658220|PMID:21964829|PMID:22291064|PMID:22419508|PMID:22526352|PMID:22702953|PMID:22791502|PMID:24342753|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24830047|PMID:25703509|PMID:25741868|PMID:25802885|PMID:26048687|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26467025|PMID:26948711|PMID:27530454|PMID:28492532|PMID:28687525|PMID:29776788|PMID:32381727|PMID:34008892|PMID:34529350|PMID:6628444 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:2661 myoepithelioma ISO RGD:1604803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:3070 high grade glioma ISO RGD:1604803 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33629929 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245013 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:440 neuromuscular disease ISO RGD:1604803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorder PMID:12884428|PMID:1520078|PMID:15668982|PMID:18587396|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:2128891|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:22065612|PMID:22419508|PMID:22675077|PMID:22702953|PMID:24319099|PMID:24575025|PMID:24577120|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26467025|PMID:26948711|PMID:27549087|PMID:27751652|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31041394|PMID:31191204|PMID:31468327|PMID:32579787|PMID:33060286|PMID:34529350|PMID:4056805|PMID:8179305 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:630 genetic disease ISO RGD:1604803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11891693|PMID:14755468|PMID:15152081|PMID:1520078|PMID:15668982|PMID:17576681|PMID:17879966|PMID:18587396|PMID:19232556|PMID:19661060|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21115951|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:21964574|PMID:22065612|PMID:22675077|PMID:22689196|PMID:22702953|PMID:22791502|PMID:22851605|PMID:24319099|PMID:24575025|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25363768|PMID:25741868|PMID:25900305|PMID:26046366|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26377240|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27330106|PMID:27549087|PMID:27751652|PMID:28251916|PMID:28492532|PMID:28687525|PMID:28898540|PMID:29776788|PMID:29858556|PMID:30230566|PMID:30373780|PMID:30564185|PMID:31041394|PMID:31191204|PMID:31468327|PMID:32028661|PMID:32376792|PMID:32381727|PMID:32579787|PMID:33060286|PMID:33303739|PMID:34008892|PMID:4056805|PMID:6628444|PMID:8179305|PMID:9536098|PMID:956253 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:6432 pulmonary hypertension ISO RGD:69337 D RGD:9068941 20230525 RGD protein:increased expression:pulmonary artery PMID:22962011|REF_RGD_ID:329813078 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:65 connective tissue disease ISO RGD:1604803 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:19666518|PMID:22419508|PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:8398 osteoarthritis ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21964574 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:9001890 Auditory Neuropathy ISO RGD:1604803 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:9002211 Hyperalgesia ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18234883 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003049 Femur Head Necrosis ISO RGD:1604803 D RGD:7240710 20190315 OMIM 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003049 Femur Head Necrosis ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Avascular necrosis of femoral head, primary, 2 PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21288981|PMID:21336783|PMID:21454511|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:8179305 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003559 Brachyolmia Type 3 ISO RGD:1604803 D RGD:7240710 20180130 OMIM 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003559 Brachyolmia Type 3 ISO RGD:1604803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brachyolmia Type 3 | ClinVar Annotator: match by term: Brachyolmia autosomal dominant PMID:18587396|PMID:19661060|PMID:19666518|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21964574|PMID:22419508|PMID:22689196|PMID:22702953|PMID:22851605|PMID:24575025|PMID:24577120|PMID:24677493|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25326637|PMID:25703509|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28166811|PMID:28251916|PMID:28492532|PMID:28898540|PMID:29858556|PMID:30230566|PMID:30373780|PMID:31475037|PMID:32376792|PMID:34529350|PMID:4056805|PMID:8179305 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:9003919 Urination Disorders ISO RGD:1604803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20956320 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:9004825 Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal ISO RGD:1604803 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia and progressive central nervous system degeneration, lethal PMID:20425821|PMID:20577006|PMID:21573172|PMID:22791502|PMID:25741868|PMID:28492532 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:9006635 Hyponatremia ISO RGD:1604803 D RGD:7240710 20181003 OMIM 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:9006934 Digital Arthropathy-Brachydactyly, Familial ISO RGD:1604803 D RGD:7240710 20180130 OMIM 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:9006934 Digital Arthropathy-Brachydactyly, Familial ISO RGD:1604803 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly PMID:11891693|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20460441|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21964574|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25900305|PMID:26110311|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:4056805|PMID:8179305 8959460 Trpv4 transient receptor potential cation channel subfamily V member 4 gene DOID:9008855 Brachyolmia Type 2 ISO RGD:1604803 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type PMID:12884428|PMID:14755468|PMID:17879966|PMID:19232556|PMID:20037586|PMID:20037587|PMID:20037588|PMID:20104247|PMID:20425821|PMID:20460441|PMID:20503319|PMID:20577006|PMID:21288981|PMID:21336783|PMID:21454511|PMID:21573172|PMID:21658220|PMID:22702953|PMID:24575025|PMID:24789864|PMID:24963089|PMID:25256292|PMID:25741868|PMID:25802885|PMID:25900305|PMID:26110311|PMID:26170305|PMID:26249260|PMID:26392352|PMID:26467025|PMID:26948711|PMID:27751652|PMID:28251916|PMID:28492532|PMID:29858556|PMID:30230566|PMID:30373780|PMID:34529350|PMID:4056805|PMID:6628444|PMID:8179305 8959483 Slurp1 secreted LY6/PLAUR domain containing 1 gene DOID:0060862 mal de Meleda ISO RGD:1346067 D RGD:7240710 20210303 OMIM 8959483 Slurp1 secreted LY6/PLAUR domain containing 1 gene DOID:0060862 mal de Meleda ISO RGD:1346067 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS | ClinVar Annotator: match by term: Meleda Disease PMID:11285253|PMID:12483299|PMID:12535203|PMID:12603845|PMID:14674887|PMID:14756676|PMID:17008884|PMID:19692209|PMID:23290002|PMID:24033266|PMID:24093092|PMID:24604124|PMID:25741868|PMID:28492532|PMID:29231248|PMID:9887370 8959483 Slurp1 secreted LY6/PLAUR domain containing 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1346067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 8959483 Slurp1 secreted LY6/PLAUR domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1346067 D RGD:9068941 20210305 CTD CTD Direct Evidence: marker/mechanism PMID:25168896 8959483 Slurp1 secreted LY6/PLAUR domain containing 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1346067 D RGD:9068941 20210305 RGD DNA:frameshift mutation, nonsense mutation, snp:cds, intron:p.C28fs32X, p.R96X, IVS2+1G>A (human) PMID:11285253|REF_RGD_ID:1599051 8959483 Slurp1 secreted LY6/PLAUR domain containing 1 gene DOID:4621 holoprosencephaly ISO RGD:1346067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8959483 Slurp1 secreted LY6/PLAUR domain containing 1 gene DOID:630 genetic disease ISO RGD:1346067 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25741868|PMID:28492532 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12690580|PMID:16014653|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17576681|PMID:17595294|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:8872480|PMID:9536098 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17576681|PMID:17595294|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32028661|PMID:32181591|PMID:32376792|PMID:32403337|PMID:8872480|PMID:9536098 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:32376792|PMID:32403337|PMID:33067402|PMID:8872480|PMID:9536098 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:32376792|PMID:32403337|PMID:33067402|PMID:8872480|PMID:9536098 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:32376792|PMID:32403337|PMID:33067402|PMID:35304488|PMID:8872480|PMID:9536098 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317292 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17576681|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25058219|PMID:25168514|PMID:25356970|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26000875|PMID:26138142|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28708278|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:32376792|PMID:32403337|PMID:33067402|PMID:35304488|PMID:8872480|PMID:9536098 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0110164 Charcot-Marie-Tooth disease type 2D ISO RGD:1317292 D RGD:7240710 20180130 OMIM 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0110164 Charcot-Marie-Tooth disease type 2D ISO RGD:1317292 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:22462675|PMID:24078732|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25326637|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25621899|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28251916|PMID:28492532|PMID:28594869|PMID:29648643|PMID:29858556|PMID:31173493|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32181591|PMID:32376792|PMID:32403337|PMID:32909314|PMID:8541851|PMID:8872480|PMID:9879677 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant PMID:17101916|PMID:20301420|PMID:22462675|PMID:25168514 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25635128 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 ISO RGD:1317292 D RGD:7240710 20240131 OMIM 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 ISO RGD:1317292 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:23279345|PMID:24354524|PMID:24604904|PMID:24627108|PMID:25058219|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25635128|PMID:25741868|PMID:26244500|PMID:26392352|PMID:26467025|PMID:26503042|PMID:27008886|PMID:27582484|PMID:27790088|PMID:27862672|PMID:28160950|PMID:28251916|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29648643|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31628756|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32376792|PMID:32909314|PMID:33381078|PMID:8541851|PMID:9879677 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317292 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17544401|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24088041|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:8541851|PMID:8872480|PMID:9879677 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317292 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10732809|PMID:12690580|PMID:16014653|PMID:16199547|PMID:16534118|PMID:17035524|PMID:17101916|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:21737751|PMID:23279345|PMID:24078732|PMID:24354524|PMID:24604904|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25420567|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26138142|PMID:26244500|PMID:26467025|PMID:26503042|PMID:26517670|PMID:26633545|PMID:26752306|PMID:27008886|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29858556|PMID:30643024|PMID:31591847|PMID:31827005|PMID:31832804|PMID:31985473|PMID:35304488|PMID:8541851|PMID:8872480|PMID:9879677 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17101916|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:24604904|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28166811|PMID:28492532|PMID:28594869|PMID:29520015|PMID:29648643|PMID:31827005|PMID:31832804|PMID:31985473 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1317292 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:12690580|PMID:16014653|PMID:16534118|PMID:16769947|PMID:17035524|PMID:17101916|PMID:17545306|PMID:17595294|PMID:17663003|PMID:19329989|PMID:20301420|PMID:24604904|PMID:24627108|PMID:25168514|PMID:25476837|PMID:25614874|PMID:25741868|PMID:26467025|PMID:27008886|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28251916|PMID:28492532|PMID:28594869|PMID:29648643|PMID:29858556|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32376792|PMID:32909314 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:231 motor neuron disease ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Motor neuron disease 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1317292 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16014653|PMID:16199547|PMID:17035524|PMID:17101916|PMID:19329989|PMID:20301420|PMID:24078732|PMID:24627108|PMID:24669931|PMID:25168514|PMID:25614874|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26752306|PMID:27582484|PMID:27790088|PMID:28160950|PMID:28492532|PMID:28594869|PMID:28675565|PMID:29858556|PMID:31785789|PMID:31827005|PMID:31832804|PMID:31985473|PMID:32376792|PMID:32403337 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:7319 axonal neuropathy ISO RGD:1317292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:9004357 Spinal Muscular Atrophy, Infantile, James Type ISO RGD:1317292 D RGD:7240710 20201021 OMIM 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:9004357 Spinal Muscular Atrophy, Infantile, James Type ISO RGD:1317292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type PMID:17101916|PMID:20301420|PMID:22462675|PMID:24604904|PMID:25168514|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31985473|PMID:32181591 8959500 Gars1 glycyl-tRNA synthetase 1 gene DOID:9008305 Talipes Cavus ISO RGD:1317292 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:28492532 8959521 Sfta2 surfactant associated 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347220 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8959521 Sfta2 surfactant associated 2 gene DOID:11372 megacolon ISO RGD:1347220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8959521 Sfta2 surfactant associated 2 gene DOID:630 genetic disease ISO RGD:1347220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959534 Tacr2 tachykinin receptor 2 gene DOID:0060180 colitis ISO RGD:3812 D RGD:9068941 20200609 RGD PMID:12490601|PMID:18715640|REF_RGD_ID:2304260|REF_RGD_ID:5147478 8959534 Tacr2 tachykinin receptor 2 gene DOID:1176 bronchial disease ISO RGD:736836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15774269 8959534 Tacr2 tachykinin receptor 2 gene DOID:2841 asthma ISO RGD:736836 D RGD:9068941 20200609 RGD PMID:19880429|REF_RGD_ID:5147641 8959534 Tacr2 tachykinin receptor 2 gene DOID:2841 asthma ISO RGD:736836 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.G231E (human) PMID:20175803|REF_RGD_ID:5147640 8959534 Tacr2 tachykinin receptor 2 gene DOID:630 genetic disease ISO RGD:736836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959534 Tacr2 tachykinin receptor 2 gene DOID:6432 pulmonary hypertension ISO RGD:3812 D RGD:9068941 20200609 RGD PMID:12662901|REF_RGD_ID:5147638 8959534 Tacr2 tachykinin receptor 2 gene DOID:9005219 Abnormal Reflexes ISO RGD:3812 D RGD:9068941 20200609 RGD PMID:11342967|REF_RGD_ID:5147480 8959534 Tacr2 tachykinin receptor 2 gene DOID:9007073 Cough susceptibility ISO RGD:736836 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.G231E (human) PMID:19583679|REF_RGD_ID:5147627 8959545 Xrn2 5'-3' exoribonuclease 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1320991 D RGD:9068941 20200609 RGD DNA:hypermethylation:3' utr: (human) PMID:21692051|REF_RGD_ID:11041796 8959545 Xrn2 5'-3' exoribonuclease 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1320991 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2171-314T>C (rs2025811) (human) PMID:19915612|REF_RGD_ID:11041753 8959545 Xrn2 5'-3' exoribonuclease 2 gene DOID:1824 status epilepticus ISO RGD:1310218 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:26869208|REF_RGD_ID:11041797 8959545 Xrn2 5'-3' exoribonuclease 2 gene DOID:1967 leiomyosarcoma ISO RGD:1320991 D RGD:9068941 20200609 RGD mRNA:increased expression:uterus (human) PMID:24485798|REF_RGD_ID:11041788 8959545 Xrn2 5'-3' exoribonuclease 2 gene DOID:630 genetic disease ISO RGD:1320991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959579 CUNH10orf88 chromosome unknown C10orf88 homolog gene DOID:2340 craniosynostosis ISO RGD:1312790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 8959579 CUNH10orf88 chromosome unknown C10orf88 homolog gene DOID:630 genetic disease ISO RGD:1312790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959594 Lhb luteinizing hormone subunit beta gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:69097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8959594 Lhb luteinizing hormone subunit beta gene DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia ISO RGD:69097 D RGD:7240710 20180130 OMIM 8959594 Lhb luteinizing hormone subunit beta gene DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia ISO RGD:69097 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 23 with or without anosmia PMID:11384661|PMID:12189497|PMID:12620433|PMID:15602022|PMID:1727547|PMID:17761593|PMID:19126631|PMID:19890128|PMID:22723313|PMID:25741868|PMID:28492532|PMID:429481|PMID:8979264|PMID:9457942|PMID:9694256 8959594 Lhb luteinizing hormone subunit beta gene DOID:0111076 progressive familial heart block type IB ISO RGD:69097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 8959594 Lhb luteinizing hormone subunit beta gene DOID:10763 hypertension ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8959594 Lhb luteinizing hormone subunit beta gene DOID:11612 polycystic ovary syndrome ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11889176|PMID:20378617 8959594 Lhb luteinizing hormone subunit beta gene DOID:12336 male infertility ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10739843|PMID:15602022|PMID:387166 8959594 Lhb luteinizing hormone subunit beta gene DOID:12700 hyperprolactinemia ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6770916 8959594 Lhb luteinizing hormone subunit beta gene DOID:1574 alcohol use disorder ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8590623 8959594 Lhb luteinizing hormone subunit beta gene DOID:1924 hypogonadism ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15602022|PMID:1727547|PMID:18449926|PMID:8263139 8959594 Lhb luteinizing hormone subunit beta gene DOID:2696 Leydig cell tumor ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25289773 8959594 Lhb luteinizing hormone subunit beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:69097 D RGD:9068941 20200609 RGD protein:increased expression:adenohypophysis (human) PMID:20651845|REF_RGD_ID:28711759 8959594 Lhb luteinizing hormone subunit beta gene DOID:630 genetic disease ISO RGD:69097 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8959594 Lhb luteinizing hormone subunit beta gene DOID:9001239 Delayed Puberty ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15602022 8959594 Lhb luteinizing hormone subunit beta gene DOID:9001310 Tobacco Use Disorder ISO RGD:69097 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:12893845 8959594 Lhb luteinizing hormone subunit beta gene DOID:9002395 Hypothermia ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8959594 Lhb luteinizing hormone subunit beta gene DOID:9002554 Tachycardia ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6350720 8959594 Lhb luteinizing hormone subunit beta gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69097 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:12893845 8959594 Lhb luteinizing hormone subunit beta gene DOID:9007001 Bradycardia ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:6350720 8959594 Lhb luteinizing hormone subunit beta gene DOID:9007284 Precocious Puberty ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345393 8959594 Lhb luteinizing hormone subunit beta gene DOID:9007456 Female Infertility ISO RGD:69097 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9457942 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1353996 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:0080499 ovarian dysgenesis 7 ISO RGD:1353996 D RGD:7240710 20190315 OMIM 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:0080499 ovarian dysgenesis 7 ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 7 PMID:25741868|PMID:28492532|PMID:29566152|PMID:31042289 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:0111473 combined oxidative phosphorylation deficiency 5 ISO RGD:1353996 D RGD:7240710 20180130 OMIM 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:0111473 combined oxidative phosphorylation deficiency 5 ISO RGD:1353996 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemia PMID:17576681|PMID:17873122|PMID:18539099|PMID:21189481|PMID:25663021|PMID:25741868|PMID:28492532|PMID:28752220|PMID:29096039|PMID:31683770|PMID:36349561|PMID:9536098 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:1353996 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: 46 XX gonadal dysgenesis PMID:25741868|PMID:28492532|PMID:29566152 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:5426 primary ovarian insufficiency ISO RGD:1353996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:29566152|PMID:31042289 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:630 genetic disease ISO RGD:1353996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:9007960 Adult-Onset Muscular Dystrophy with Leukoencephalopathy ISO RGD:1353996 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, adult-onset, with leukoencephalopathy PMID:25741868|PMID:28492532|PMID:29566152 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:9008540 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs ISO RGD:1353996 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: 46 XX gonadal dysgenesis PMID:25741868|PMID:28492532|PMID:29566152 8959601 Mrps22 mitochondrial ribosomal protein S22 gene DOID:9008939 Breast Neoplasms ISO RGD:1353996 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8959626 Atf5 activating transcription factor 5 gene DOID:12858 Huntington's disease ISO RGD:1350993 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:28861715 8959626 Atf5 activating transcription factor 5 gene DOID:3070 high grade glioma ISO RGD:1350993 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:28861715 8959626 Atf5 activating transcription factor 5 gene DOID:630 genetic disease ISO RGD:1350993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959639 Ogdhl oxoglutarate dehydrogenase L gene DOID:0070468 Yoon-Bellen neurodevelopmental syndrome ISO RGD:1322096 D RGD:7240710 20220406 OMIM 8959639 Ogdhl oxoglutarate dehydrogenase L gene DOID:0070468 Yoon-Bellen neurodevelopmental syndrome ISO RGD:1322096 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Yoon-Bellen neurodevelopmental syndrome PMID:25741868|PMID:26539891|PMID:28017472|PMID:34800363 8959639 Ogdhl oxoglutarate dehydrogenase L gene DOID:11372 megacolon ISO RGD:1322096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8959639 Ogdhl oxoglutarate dehydrogenase L gene DOID:1596 depressive disorder ISO RGD:1322096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Depression PMID:28017472 8959639 Ogdhl oxoglutarate dehydrogenase L gene DOID:5419 schizophrenia ISO RGD:1322096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8959639 Ogdhl oxoglutarate dehydrogenase L gene DOID:6000 congestive heart failure ISO RGD:1322096 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8959639 Ogdhl oxoglutarate dehydrogenase L gene DOID:630 genetic disease ISO RGD:1322096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28097321 8959674 Wdtc1 WD and tetratricopeptide repeats 1 gene DOID:630 genetic disease ISO RGD:1321224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959710 Ropn1l rhophilin associated tail protein 1 like gene DOID:630 genetic disease ISO RGD:1319640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959720 Hoxb5 homeobox B5 gene DOID:630 genetic disease ISO RGD:1342680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959720 Hoxb5 homeobox B5 gene DOID:9970 obesity ISO RGD:1342680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484627 8959727 Rad51b RAD51 paralog B gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1344706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 8959727 Rad51b RAD51 paralog B gene DOID:303 substance-related disorder ISO RGD:1344706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8959727 Rad51b RAD51 paralog B gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1344706 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26898890|PMID:28492532|PMID:32566746 8959727 Rad51b RAD51 paralog B gene DOID:630 genetic disease ISO RGD:1344706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959727 Rad51b RAD51 paralog B gene DOID:9000357 Male Breast Neoplasms ISO RGD:1344706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23001122 8959727 Rad51b RAD51 paralog B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344706 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24139550|PMID:25741868|PMID:26845104|PMID:26898890|PMID:28492532 8959727 Rad51b RAD51 paralog B gene DOID:9008939 Breast Neoplasms ISO RGD:1344706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330030 8959807 Rfx7 regulatory factor X7 gene DOID:10907 microcephaly ISO RGD:1603966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8959807 Rfx7 regulatory factor X7 gene DOID:2717 Bloom syndrome ISO RGD:1603966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8959807 Rfx7 regulatory factor X7 gene DOID:630 genetic disease ISO RGD:1603966 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33658631 8959807 Rfx7 regulatory factor X7 gene DOID:9004011 Autosomal Dominant Intellectual Developmental Disorder 71 ISO RGD:1603966 D RGD:7240710 20230505 OMIM 8959807 Rfx7 regulatory factor X7 gene DOID:9004011 Autosomal Dominant Intellectual Developmental Disorder 71 ISO RGD:1603966 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities PMID:25741868|PMID:33584783|PMID:33658631|PMID:36334883 8959807 Rfx7 regulatory factor X7 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1603966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8959807 Rfx7 regulatory factor X7 gene DOID:9256 colorectal cancer ISO RGD:1603966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8959834 Znf416 zinc finger protein 416 gene DOID:630 genetic disease ISO RGD:1346172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959835 Klhl10 kelch like family member 10 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1344199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 8959835 Klhl10 kelch like family member 10 gene DOID:0070180 spermatogenic failure 11 ISO RGD:1344199 D RGD:7240710 20180130 OMIM 8959835 Klhl10 kelch like family member 10 gene DOID:0070180 spermatogenic failure 11 ISO RGD:1344199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 11 PMID:17047026|PMID:25741868|PMID:28492532 8959835 Klhl10 kelch like family member 10 gene DOID:630 genetic disease ISO RGD:1344199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959897 Fam76b family with sequence similarity 76 member B gene DOID:1059 intellectual disability ISO RGD:1605286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8959897 Fam76b family with sequence similarity 76 member B gene DOID:12704 ataxia telangiectasia ISO RGD:1605286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8959897 Fam76b family with sequence similarity 76 member B gene DOID:630 genetic disease ISO RGD:1605286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959910 Acot13 acyl-CoA thioesterase 13 gene DOID:630 genetic disease ISO RGD:1315172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959917 Pou2f3 POU class 2 homeobox 3 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8959917 Pou2f3 POU class 2 homeobox 3 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8959917 Pou2f3 POU class 2 homeobox 3 gene DOID:0080690 RASopathy ISO RGD:1351293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8959917 Pou2f3 POU class 2 homeobox 3 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8959917 Pou2f3 POU class 2 homeobox 3 gene DOID:0111971 immunodeficiency 18 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8959917 Pou2f3 POU class 2 homeobox 3 gene DOID:0111972 immunodeficiency 19 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8959917 Pou2f3 POU class 2 homeobox 3 gene DOID:0111973 immunodeficiency 17 ISO RGD:1351293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8959917 Pou2f3 POU class 2 homeobox 3 gene DOID:5419 schizophrenia ISO RGD:1351293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8959917 Pou2f3 POU class 2 homeobox 3 gene DOID:630 genetic disease ISO RGD:1351293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959917 Pou2f3 POU class 2 homeobox 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8959917 Pou2f3 POU class 2 homeobox 3 gene DOID:9007661 Dwarfism ISO RGD:1351293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8959951 Rad21l1 RAD21 cohesin complex component like 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1348792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 8959951 Rad21l1 RAD21 cohesin complex component like 1 gene DOID:630 genetic disease ISO RGD:1348792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8959976 Fam83h family with sequence similarity 83 member H gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8959976 Fam83h family with sequence similarity 83 member H gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8959976 Fam83h family with sequence similarity 83 member H gene DOID:0110055 amelogenesis imperfecta type 3A ISO RGD:1603342 D RGD:7240710 20180130 OMIM 8959976 Fam83h family with sequence similarity 83 member H gene DOID:0110055 amelogenesis imperfecta type 3A ISO RGD:1603342 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA PMID:18252228|PMID:18484629|PMID:19220331|PMID:19407157|PMID:22414746|PMID:25741868|PMID:28492532|PMID:33034243 8959976 Fam83h family with sequence similarity 83 member H gene DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 8959976 Fam83h family with sequence similarity 83 member H gene DOID:2187 amelogenesis imperfecta ISO RGD:1603342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18484629|PMID:19407157 8959976 Fam83h family with sequence similarity 83 member H gene DOID:4621 holoprosencephaly ISO RGD:1603342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8959976 Fam83h family with sequence similarity 83 member H gene DOID:630 genetic disease ISO RGD:1603342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8959976 Fam83h family with sequence similarity 83 member H gene DOID:9001593 Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis ISO RGD:12270513 D RGD:9068941 20210604 OMIA Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis PMID:16961470|PMID:22212237|PMID:22253609|PMID:22339941|PMID:29284193|PMID:30650096 8959976 Fam83h family with sequence similarity 83 member H gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1603342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8959976 Fam83h family with sequence similarity 83 member H gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1603342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19407157 8959995 Ttc7b tetratricopeptide repeat domain 7B gene DOID:0080054 achondrogenesis type IA ISO RGD:1314238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8959995 Ttc7b tetratricopeptide repeat domain 7B gene DOID:630 genetic disease ISO RGD:1314238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960031 Anks1b ankyrin repeat and sterile alpha motif domain containing 1B gene DOID:630 genetic disease ISO RGD:1602104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8960031 Anks1b ankyrin repeat and sterile alpha motif domain containing 1B gene DOID:893 Wilson disease ISO RGD:1602104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23519153 8960089 Dcaf12l2 DDB1 and CUL4 associated factor 12 like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8960089 Dcaf12l2 DDB1 and CUL4 associated factor 12 like 2 gene DOID:12849 autistic disorder ISO RGD:1603495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8960089 Dcaf12l2 DDB1 and CUL4 associated factor 12 like 2 gene DOID:630 genetic disease ISO RGD:1603495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960099 Loxl2 lysyl oxidase like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1318201 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8960099 Loxl2 lysyl oxidase like 2 gene DOID:12236 primary biliary cholangitis ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 8960099 Loxl2 lysyl oxidase like 2 gene DOID:1883 hepatitis C ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 8960099 Loxl2 lysyl oxidase like 2 gene DOID:2043 hepatitis B ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 8960099 Loxl2 lysyl oxidase like 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24716982 8960099 Loxl2 lysyl oxidase like 2 gene DOID:630 genetic disease ISO RGD:1318201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960099 Loxl2 lysyl oxidase like 2 gene DOID:893 Wilson disease ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023247 8960099 Loxl2 lysyl oxidase like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8960099 Loxl2 lysyl oxidase like 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 8960099 Loxl2 lysyl oxidase like 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 8960099 Loxl2 lysyl oxidase like 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1318201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8960099 Loxl2 lysyl oxidase like 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1318201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330836|PMID:24014025 8960120 Gabrp gamma-aminobutyric acid type A receptor subunit pi gene DOID:630 genetic disease ISO RGD:737032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1349807 D RGD:7240710 20240313 OMIM 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:0111955 immunodeficiency 27A ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:10192386|PMID:10811850|PMID:11583830|PMID:12516030|PMID:12712974|PMID:12743658|PMID:15589309|PMID:16690980|PMID:18171304|PMID:18593809|PMID:19488747|PMID:19880337|PMID:19880857|PMID:20015550|PMID:21448974|PMID:24033266|PMID:24199198|PMID:25216720|PMID:25592983|PMID:25741868|PMID:26060819|PMID:26173802|PMID:26343451|PMID:27356097|PMID:28492532|PMID:28902581|PMID:8960473|PMID:8960475|PMID:9142806|PMID:9389728|PMID:9497247|PMID:9806040 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:0111956 immunodeficiency 27B ISO RGD:1349807 D RGD:7240710 20240313 OMIM 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:0111956 immunodeficiency 27B ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency PMID:10192386|PMID:11583830|PMID:12712974|PMID:15589309|PMID:16867158|PMID:18171304|PMID:19880337|PMID:20015550|PMID:24033266|PMID:25216720|PMID:25741868|PMID:28492532|PMID:28902581|PMID:8960473|PMID:9806040 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:11476 osteoporosis ISO RGD:1551263 D RGD:9068941 20220825 MouseDO OMIM:166710 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:12155 lymphocytic choriomeningitis ameliorates ISO RGD:1551263 D RGD:9068941 20210326 RGD PMID:22496215|REF_RGD_ID:124715469 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:13141 uveitis ISO RGD:1349807 D RGD:9068941 20200609 RGD associated with Behcet's disease PMID:29534057|REF_RGD_ID:14974251 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:2043 hepatitis B ISO RGD:1349807 D RGD:7240710 20240313 OMIM 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:2043 hepatitis B ISO RGD:1349807 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to PMID:10192386|PMID:11583830|PMID:12516030|PMID:16690980|PMID:18171304|PMID:19488747|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:1349807 D RGD:9068941 20200609 RGD PMID:20655098|REF_RGD_ID:6480271 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:2841 asthma ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: SNP: Leu467Pro PMID:12851715|REF_RGD_ID:6480431 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:2841 asthma ISO RGD:1551263 D RGD:9068941 20200609 RGD PMID:21737883|REF_RGD_ID:6480255 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:289 endometriosis ISO RGD:1349807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:399 tuberculosis ISO RGD:1349807 D RGD:7240710 20240313 OMIM 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:399 tuberculosis ISO RGD:1349807 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:10192386|PMID:11583830|PMID:12516030|PMID:16690980|PMID:18171304|PMID:19488747|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581|PMID:9389728 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:12712974|PMID:15589309|PMID:19880337|PMID:24033266|PMID:25216720|PMID:25741868|PMID:28492532|PMID:8960473|PMID:9806040 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:630 genetic disease ISO RGD:1349807 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:1349807 D RGD:9068941 20200609 RGD mRNA: increased expression PMID:20808962|REF_RGD_ID:4892610 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:824 periodontitis ISO RGD:1349807 D RGD:9068941 20200609 RGD PMID:20655098|REF_RGD_ID:6480271 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9000099 Experimental Colitis ameliorates ISO RGD:1551263 D RGD:9068941 20210326 RGD PMID:25918247|REF_RGD_ID:124715468 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: missense mutations: cds: I87T; V63G PMID:21266457|REF_RGD_ID:6480268 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9001415 Mycobacterium Infections ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: mutation PMID:15589309|REF_RGD_ID:6480429 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: SNP: Leu467Pro PMID:12851715|REF_RGD_ID:6480431 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9004697 Interferon Gamma, Receptor 1, Deficiency ISO RGD:1349807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Interferon gamma receptor 1 deficiency | ClinVar Annotator: match by term: Interferon gamma receptor deficiency PMID:10192386|PMID:11583830|PMID:12516030|PMID:16199547|PMID:18171304|PMID:18593809|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581|PMID:8960473|PMID:9806040 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1349807 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:10192386|PMID:10480427|PMID:10811850|PMID:11583830|PMID:12516030|PMID:12712974|PMID:12743658|PMID:15589309|PMID:16199547|PMID:16690980|PMID:17251453|PMID:17513528|PMID:17514500|PMID:17576681|PMID:18171304|PMID:18593809|PMID:19488747|PMID:19880337|PMID:20015550|PMID:21448974|PMID:24033266|PMID:24199198|PMID:24220318|PMID:25216720|PMID:25741868|PMID:26060819|PMID:26173802|PMID:26343451|PMID:26642243|PMID:27356097|PMID:27868075|PMID:28492532|PMID:28744922|PMID:28902581|PMID:29249112|PMID:29572183|PMID:8960473|PMID:9389728|PMID:9536098|PMID:9806040 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:8960473|REF_RGD_ID:1624283 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1349807 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1349807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9007356 Eczema ISO RGD:1551263 D RGD:9068941 20200609 RGD DNA: insertion: exon 5: neo cassette PMID:21458658|REF_RGD_ID:6480259 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9007356 Eczema resistance ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: snps: rs7749390, rs10457655 PMID:21458658|REF_RGD_ID:6480259 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1349807 D RGD:9068941 20200609 RGD DNA: SNP: Leu467Pro PMID:12851715|REF_RGD_ID:6480431 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9008114 Helicobacter Infections ISO RGD:1349807 D RGD:7240710 20240313 OMIM 8960134 Ifngr1 interferon gamma receptor 1 gene DOID:9008114 Helicobacter Infections ISO RGD:1349807 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Helicobacter pylori infection, susceptibility to PMID:10192386|PMID:11583830|PMID:12516030|PMID:16690980|PMID:18171304|PMID:19488747|PMID:20015550|PMID:25741868|PMID:28492532|PMID:28902581 8960145 Pgbd2 piggyBac transposable element derived 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1312360 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8960145 Pgbd2 piggyBac transposable element derived 2 gene DOID:630 genetic disease ISO RGD:1312360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960158 Dffb DNA fragmentation factor subunit beta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8960158 Dffb DNA fragmentation factor subunit beta gene DOID:11372 megacolon ISO RGD:731033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8960158 Dffb DNA fragmentation factor subunit beta gene DOID:224 transient cerebral ischemia ISO RGD:620335 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus CA1 PMID:11425895|REF_RGD_ID:628524 8960158 Dffb DNA fragmentation factor subunit beta gene DOID:630 genetic disease ISO RGD:731033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960158 Dffb DNA fragmentation factor subunit beta gene DOID:9004203 Chromosome Breakage ISO RGD:731033 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31401084 8960158 Dffb DNA fragmentation factor subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8960181 Mlx MAX dimerization protein MLX gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1619244 D RGD:9068941 20230330 MouseDO 8960181 Mlx MAX dimerization protein MLX gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:1602902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 3 PMID:31042289 8960181 Mlx MAX dimerization protein MLX gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1602902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 8960181 Mlx MAX dimerization protein MLX gene DOID:2508 Takayasu's arteritis susceptibility ISO RGD:1602902 D RGD:9068941 20230916 RGD DNA:SNP:cd: p.Q139R A>G (rs665268) (human) PMID:30354298|REF_RGD_ID:401794441 8960181 Mlx MAX dimerization protein MLX gene DOID:2508 Takayasu's arteritis susceptibility ISO RGD:1602902 D RGD:9068941 20230921 RGD DNA:missense mutation:cd: p.Q139R(rs665268) (human) PMID:23830516|REF_RGD_ID:401824641 8960181 Mlx MAX dimerization protein MLX gene DOID:630 genetic disease ISO RGD:1602902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960203 Igfbp5 insulin like growth factor binding protein 5 gene DOID:11054 urinary bladder cancer ISO RGD:732384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8960203 Igfbp5 insulin like growth factor binding protein 5 gene DOID:3770 pulmonary fibrosis ISO RGD:732384 D RGD:9068941 20200609 RGD PMID:15681824|REF_RGD_ID:1626120 8960203 Igfbp5 insulin like growth factor binding protein 5 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2876 D RGD:9068941 20200609 RGD PMID:19844724|REF_RGD_ID:10402761 8960203 Igfbp5 insulin like growth factor binding protein 5 gene DOID:630 genetic disease ISO RGD:732384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960203 Igfbp5 insulin like growth factor binding protein 5 gene DOID:9000528 Coronary Disease ISO RGD:732384 D RGD:9068941 20200609 RGD PMID:15521962|REF_RGD_ID:1626121 8960203 Igfbp5 insulin like growth factor binding protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8960203 Igfbp5 insulin like growth factor binding protein 5 gene DOID:9004657 Weight Gain ISO RGD:732384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8960203 Igfbp5 insulin like growth factor binding protein 5 gene DOID:9005930 Endotoxemia ISO RGD:2876 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 8960203 Igfbp5 insulin like growth factor binding protein 5 gene DOID:9008939 Breast Neoplasms ISO RGD:732384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20354179 8960211 Sox3 SRY-box transcription factor 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8960211 Sox3 SRY-box transcription factor 3 gene DOID:0111779 X-linked panhypopituitarism ISO RGD:1347884 D RGD:7240710 20180130 OMIM 8960211 Sox3 SRY-box transcription factor 3 gene DOID:0111779 X-linked panhypopituitarism ISO RGD:1347884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Panhypopituitarism, X-linked PMID:15800844|PMID:25741868|PMID:28492532 8960211 Sox3 SRY-box transcription factor 3 gene DOID:1059 intellectual disability ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8960211 Sox3 SRY-box transcription factor 3 gene DOID:12259 hemophilia B ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:2198809|PMID:24375831|PMID:28492532|PMID:3029178|PMID:4045960|PMID:8304338 8960211 Sox3 SRY-box transcription factor 3 gene DOID:12849 autistic disorder ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:23757202|PMID:25741868|PMID:28492532|PMID:30208311 8960211 Sox3 SRY-box transcription factor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8960211 Sox3 SRY-box transcription factor 3 gene DOID:630 genetic disease ISO RGD:1347884 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21289259|PMID:25741868|PMID:28492532 8960211 Sox3 SRY-box transcription factor 3 gene DOID:9000947 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM ISO RGD:1347884 D RGD:7240710 20180130 OMIM 8960211 Sox3 SRY-box transcription factor 3 gene DOID:9000947 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM ISO RGD:1347884 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked, with panhypopituitarism | ClinVar Annotator: match by term: X-linked intellectual disability with isolated growth hormone deficiency PMID:12428212|PMID:21289259|PMID:23757202|PMID:25741868|PMID:28492532|PMID:8826446 8960211 Sox3 SRY-box transcription factor 3 gene DOID:9001510 Funnel Chest ISO RGD:1347884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:23757202|PMID:25741868|PMID:28492532 8960211 Sox3 SRY-box transcription factor 3 gene DOID:9004048 X-Linked Mental Retardation with Isolated Growth Hormone Deficiency ISO RGD:1347884 D RGD:9068941 20200609 RGD DNA:duplication:cds:c.712_744dup (human) PMID:12428212|REF_RGD_ID:11535974 8960211 Sox3 SRY-box transcription factor 3 gene DOID:9406 hypopituitarism ISO RGD:11333 D RGD:9068941 20200609 RGD PMID:14981518|REF_RGD_ID:1300422 8960217 Ptdss2 phosphatidylserine synthase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8960217 Ptdss2 phosphatidylserine synthase 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1317384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8960217 Ptdss2 phosphatidylserine synthase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8960217 Ptdss2 phosphatidylserine synthase 2 gene DOID:630 genetic disease ISO RGD:1317384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960241 Ddrgk1 DDRGK domain containing 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1320614 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8960241 Ddrgk1 DDRGK domain containing 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1320614 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8960241 Ddrgk1 DDRGK domain containing 1 gene DOID:630 genetic disease ISO RGD:1320614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8960241 Ddrgk1 DDRGK domain containing 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1320614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:26224535|PMID:28492532 8960241 Ddrgk1 DDRGK domain containing 1 gene DOID:9006563 Spondyloepimetaphyseal Dysplasia, Shohat Type ISO RGD:1320614 D RGD:7240710 20190315 OMIM 8960241 Ddrgk1 DDRGK domain containing 1 gene DOID:9006563 Spondyloepimetaphyseal Dysplasia, Shohat Type ISO RGD:1320614 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Shohat type PMID:25741868|PMID:28263186|PMID:28492532|PMID:8357004 8960283 Nynrin NYN domain and retroviral integrase containing gene DOID:0060439 lysinuric protein intolerance ISO RGD:1345252 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8960283 Nynrin NYN domain and retroviral integrase containing gene DOID:630 genetic disease ISO RGD:1345252 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8960283 Nynrin NYN domain and retroviral integrase containing gene DOID:687 hepatoblastoma ISO RGD:1345252 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 8960283 Nynrin NYN domain and retroviral integrase containing gene DOID:9000265 Specific Granule Deficiency ISO RGD:1345252 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8960283 Nynrin NYN domain and retroviral integrase containing gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345252 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:0050952 spastic ataxia ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V ISO RGD:1351904 D RGD:7240710 20180130 OMIM 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V ISO RGD:1351904 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2V PMID:10094189|PMID:11286389|PMID:11668611|PMID:12202988|PMID:14984474|PMID:18218046|PMID:20852935|PMID:21204211|PMID:21937992|PMID:22976768|PMID:23667853|PMID:25520920|PMID:25525159|PMID:25741868|PMID:25818867|PMID:26907177|PMID:27590925|PMID:28492532|PMID:28751108|PMID:28844463|PMID:29269699|PMID:29661560|PMID:29979746|PMID:30070758|PMID:31413257|PMID:31536183|PMID:31969655|PMID:32883051|PMID:33083013|PMID:33747789|PMID:34396902|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9832037|PMID:9950362 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1351904 D RGD:7240710 20191106 OMIM 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:1351904 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:10094189|PMID:11068184|PMID:11153910|PMID:11286389|PMID:11668611|PMID:11793481|PMID:11836372|PMID:12202988|PMID:14984474|PMID:15300983|PMID:15933803|PMID:16151907|PMID:16199547|PMID:16447797|PMID:17576681|PMID:18218046|PMID:19046346|PMID:20040070|PMID:20138557|PMID:20852935|PMID:21204211|PMID:21685203|PMID:217121855|PMID:21712855|PMID:21910976|PMID:21937992|PMID:22002444|PMID:22908982|PMID:22976768|PMID:23084433|PMID:23100014|PMID:23380547|PMID:23430803|PMID:23661660|PMID:23667853|PMID:23840811|PMID:24314109|PMID:24347096|PMID:25256447|PMID:25466957|PMID:25520920|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25818867|PMID:26075876|PMID:26907177|PMID:27243974|PMID:27590925|PMID:28018442|PMID:28101780|PMID:28306536|PMID:28492532|PMID:28751108|PMID:28836185|PMID:28844463|PMID:29269699|PMID:29606097|PMID:29661560|PMID:29881562|PMID:29979746|PMID:30070758|PMID:30802506|PMID:30809705|PMID:30903511|PMID:31236806|PMID:31319225|PMID:31342580|PMID:31413257|PMID:31536183|PMID:31969655|PMID:32014045|PMID:32056211|PMID:32447333|PMID:32578945|PMID:32883051|PMID:33083013|PMID:33246910|PMID:33550137|PMID:33747789|PMID:33763395|PMID:34349725|PMID:34396902|PMID:34806811|PMID:35005816|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9536098|PMID:9832037|PMID:9950362 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:1059 intellectual disability ISO RGD:1351904 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20852935|PMID:24314109|PMID:25741868|PMID:26075876|PMID:26907177|PMID:27590925|PMID:28492532|PMID:29606097|PMID:29979746|PMID:9443878 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:10754 otitis media ISO RGD:1623263 D RGD:9068941 20220825 MouseDO OMIM:166760 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:12798 mucopolysaccharidosis ISO RGD:1351904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:10094189|PMID:11068184|PMID:16151907|PMID:18218046|PMID:20040070|PMID:20852935|PMID:21204211|PMID:217121855|PMID:21712855|PMID:22976768|PMID:23084433|PMID:23667853|PMID:25256447|PMID:25520920|PMID:25741868|PMID:26907177|PMID:27590925|PMID:28306536|PMID:28492532|PMID:28751108|PMID:28836185|PMID:29661560|PMID:29979746|PMID:31413257|PMID:31536183|PMID:33747789|PMID:8650226|PMID:9443875|PMID:9832037|PMID:9950362 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1351904 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10094189|PMID:11286389|PMID:11668611|PMID:12202988|PMID:14984474|PMID:15300983|PMID:15933803|PMID:18218046|PMID:20852935|PMID:21204211|PMID:21937992|PMID:22976768|PMID:23380547|PMID:23430803|PMID:23667853|PMID:25520920|PMID:25525159|PMID:25741868|PMID:26907177|PMID:27590925|PMID:28492532|PMID:28751108|PMID:28844463|PMID:29269699|PMID:29661560|PMID:29979746|PMID:30070758|PMID:31413257|PMID:31536183|PMID:31969655|PMID:32883051|PMID:33083013|PMID:33747789|PMID:34396902|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9832037|PMID:9950362 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:420 hypertrichosis ISO RGD:1351904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichosis PMID:10094189|PMID:11153910|PMID:14984474|PMID:16151907|PMID:25741868|PMID:26907177|PMID:28492532|PMID:30809705|PMID:8650226|PMID:9443875|PMID:9443878|PMID:9832037|PMID:9950362 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:630 genetic disease ISO RGD:1351904 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094189|PMID:12202988|PMID:16151907|PMID:18218046|PMID:21204211|PMID:21937992|PMID:24314109|PMID:24347096|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28844463|PMID:29269699|PMID:29979746|PMID:31342580|PMID:31969655|PMID:32056211|PMID:32883051|PMID:33747789|PMID:34396902|PMID:9443878|PMID:9832037 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8960301 Naglu N-acetyl-alpha-glucosaminidase gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1564228 D RGD:9068941 20220616 RGD protein:increased activity:brain: PMID:25720338|REF_RGD_ID:152995398 8960311 Msc musculin gene DOID:0080600 COVID-19 ISO RGD:1313556 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8960311 Msc musculin gene DOID:630 genetic disease ISO RGD:1313556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960322 Zc3hav1 zinc finger CCCH-type containing, antiviral 1 gene DOID:0080690 RASopathy ISO RGD:736106 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8960322 Zc3hav1 zinc finger CCCH-type containing, antiviral 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8960322 Zc3hav1 zinc finger CCCH-type containing, antiviral 1 gene DOID:630 genetic disease ISO RGD:736106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960374 Anxa13 annexin A13 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1316801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8960374 Anxa13 annexin A13 gene DOID:630 genetic disease ISO RGD:1316801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960408 Strc stereocilin gene DOID:0050563 nonsyndromic deafness ISO RGD:1344167 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:22147502|PMID:24033266|PMID:25741868|PMID:26969326|PMID:29425068|PMID:30311386|PMID:34515852 8960408 Strc stereocilin gene DOID:0070173 spermatogenic failure 7 ISO RGD:1344167 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 7 PMID:21078986|PMID:22147502|PMID:24033266|PMID:25157971|PMID:25741868|PMID:26467025|PMID:29425068 8960408 Strc stereocilin gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1344167 D RGD:7240710 20180130 OMIM 8960408 Strc stereocilin gene DOID:0110471 autosomal recessive nonsyndromic deafness 16 ISO RGD:1344167 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition PMID:11687802|PMID:18414213|PMID:21078986|PMID:21681106|PMID:22147502|PMID:24033266|PMID:24963352|PMID:25157971|PMID:25741868|PMID:26011646|PMID:26467025|PMID:26746617|PMID:26969326|PMID:27057829|PMID:29196752|PMID:29425068|PMID:31552524|PMID:32203226|PMID:32860223|PMID:35802133|PMID:36633841 8960408 Strc stereocilin gene DOID:0110547 autosomal dominant nonsyndromic deafness 16 ISO RGD:1344167 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 16 PMID:22147502|PMID:24033266|PMID:25741868|PMID:26969326 8960408 Strc stereocilin gene DOID:10003 sensorineural hearing loss ISO RGD:1344167 D RGD:9068941 20200609 RGD PMID:11687802|REF_RGD_ID:1599186 8960408 Strc stereocilin gene DOID:2717 Bloom syndrome ISO RGD:1344167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8960408 Strc stereocilin gene DOID:630 genetic disease ISO RGD:1344167 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868 8960408 Strc stereocilin gene DOID:9002477 Sensorineural Deafness and Male Infertility ISO RGD:1344167 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Deafness-infertility syndrome PMID:18414213|PMID:21078986|PMID:22147502|PMID:24033266|PMID:25157971|PMID:25741868|PMID:26467025|PMID:29425068 8960408 Strc stereocilin gene DOID:9004538 Hearing Loss ISO RGD:1344167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:30311386 8960408 Strc stereocilin gene DOID:9256 colorectal cancer ISO RGD:1344167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8960421 S100g S100 calcium binding protein G gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8960421 S100g S100 calcium binding protein G gene DOID:10591 pre-eclampsia ISO RGD:1344914 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8960421 S100g S100 calcium binding protein G gene DOID:11714 gestational diabetes ISO RGD:1344914 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8960421 S100g S100 calcium binding protein G gene DOID:12849 autistic disorder ISO RGD:1344914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8960421 S100g S100 calcium binding protein G gene DOID:630 genetic disease ISO RGD:1344914 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960421 S100g S100 calcium binding protein G gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8960428 Dnah6 dynein axonemal heavy chain 6 gene DOID:0050545 visceral heterotaxy ISO RGD:1347757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 8960428 Dnah6 dynein axonemal heavy chain 6 gene DOID:12858 Huntington's disease treatment ISO RGD:1551162 D RGD:9068941 20200609 RGD PMID:24282028|REF_RGD_ID:13432158 8960428 Dnah6 dynein axonemal heavy chain 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1347757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8960428 Dnah6 dynein axonemal heavy chain 6 gene DOID:630 genetic disease ISO RGD:1347757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960428 Dnah6 dynein axonemal heavy chain 6 gene DOID:758 situs inversus ISO RGD:1347757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 8960515 Golm2 golgi membrane protein 2 gene DOID:2717 Bloom syndrome ISO RGD:1603284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8960515 Golm2 golgi membrane protein 2 gene DOID:630 genetic disease ISO RGD:1603284 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960515 Golm2 golgi membrane protein 2 gene DOID:9256 colorectal cancer ISO RGD:1603284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8960529 Tent5c terminal nucleotidyltransferase 5C gene DOID:630 genetic disease ISO RGD:1352086 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960538 Dtx4 deltex E3 ubiquitin ligase 4 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8960538 Dtx4 deltex E3 ubiquitin ligase 4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8960538 Dtx4 deltex E3 ubiquitin ligase 4 gene DOID:1059 intellectual disability ISO RGD:1323395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8960538 Dtx4 deltex E3 ubiquitin ligase 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1323395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 8960538 Dtx4 deltex E3 ubiquitin ligase 4 gene DOID:630 genetic disease ISO RGD:1323395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960550 Eml5 EMAP like 5 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1350172 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 8960550 Eml5 EMAP like 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8960550 Eml5 EMAP like 5 gene DOID:630 genetic disease ISO RGD:1350172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960602 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:0110935 nemaline myopathy 6 ISO RGD:3130125 D RGD:7240710 20180130 OMIM 8960602 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:0110935 nemaline myopathy 6 ISO RGD:3130125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:18414213|PMID:21104864|PMID:21109227|PMID:21681106|PMID:24525055|PMID:25741868|PMID:26467025|PMID:27074222|PMID:28492532|PMID:29382405|PMID:30208948|PMID:31127727|PMID:31167812|PMID:31475037|PMID:31671076|PMID:31828823|PMID:33693846 8960602 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:2717 Bloom syndrome ISO RGD:3130125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8960602 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:3191 nemaline myopathy ISO RGD:3130125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Dominant PMID:25741868 8960602 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:630 genetic disease ISO RGD:3130125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8960602 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:3130125 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:25741868 8960602 Kbtbd13 kelch repeat and BTB domain containing 13 gene DOID:9256 colorectal cancer ISO RGD:3130125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8960616 Arl6 ADP ribosylation factor like GTPase 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1313618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 8960616 Arl6 ADP ribosylation factor like GTPase 6 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1313618 D RGD:7240710 20180130 OMIM 8960616 Arl6 ADP ribosylation factor like GTPase 6 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1313618 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of PMID:15258860|PMID:15314642|PMID:19236846|PMID:19858128|PMID:20142850|PMID:22334370|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27486776|PMID:28005406|PMID:28130426|PMID:28492532|PMID:31054281|PMID:31736247|PMID:32906206|PMID:33090715|PMID:35457050 8960616 Arl6 ADP ribosylation factor like GTPase 6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1313618 D RGD:7240710 20180130 OMIM 8960616 Arl6 ADP ribosylation factor like GTPase 6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1313618 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 PMID:15258860|PMID:15314642|PMID:16199547|PMID:17160889|PMID:17576681|PMID:19236846|PMID:19858128|PMID:20142850|PMID:20177705|PMID:20498079|PMID:22334370|PMID:22410627|PMID:23219996|PMID:24400638|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27383656|PMID:27486776|PMID:27708425|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:29806606|PMID:31054281|PMID:31456290|PMID:31736247|PMID:32361989|PMID:32483926|PMID:32906206|PMID:33090715|PMID:33946315|PMID:34716235|PMID:34906470|PMID:35457050|PMID:9536098 8960616 Arl6 ADP ribosylation factor like GTPase 6 gene DOID:0110370 retinitis pigmentosa 55 ISO RGD:1313618 D RGD:7240710 20180130 OMIM 8960616 Arl6 ADP ribosylation factor like GTPase 6 gene DOID:0110370 retinitis pigmentosa 55 ISO RGD:1313618 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 55 PMID:15258860|PMID:17160889|PMID:19858128|PMID:19956407|PMID:20142850|PMID:20177705|PMID:22334370|PMID:25741868|PMID:27486776|PMID:28492532|PMID:31054281|PMID:31736247 8960616 Arl6 ADP ribosylation factor like GTPase 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1313618 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15314642|PMID:17160889|PMID:19236846|PMID:19858128|PMID:19956407|PMID:20177705|PMID:20498079|PMID:21282186|PMID:22410627|PMID:23219996|PMID:25741868|PMID:26355662|PMID:27124789|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:32906206|PMID:33090715|PMID:33946315|PMID:35457050 8960616 Arl6 ADP ribosylation factor like GTPase 6 gene DOID:10584 retinitis pigmentosa ISO RGD:1313618 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:15314642|PMID:17160889|PMID:19236846|PMID:19956407|PMID:20177705|PMID:20498079|PMID:22410627|PMID:23219996|PMID:25741868|PMID:26355662|PMID:27124789|PMID:28005406|PMID:28041643|PMID:28130426|PMID:28492532|PMID:31054281|PMID:32906206|PMID:33090715|PMID:33946315|PMID:34906470|PMID:35457050 8960616 Arl6 ADP ribosylation factor like GTPase 6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313618 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15258860|PMID:19858128|PMID:20142850|PMID:22334370|PMID:22773737|PMID:24400638|PMID:25741868|PMID:26355662|PMID:27124789|PMID:27486776|PMID:28005406|PMID:28130426|PMID:28492532|PMID:29806606|PMID:31456290|PMID:31736247|PMID:32531858|PMID:32906206|PMID:33090715|PMID:35457050|PMID:35886001 8960616 Arl6 ADP ribosylation factor like GTPase 6 gene DOID:630 genetic disease ISO RGD:1313618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8960616 Arl6 ADP ribosylation factor like GTPase 6 gene DOID:9008296 Eye Abnormalities ISO RGD:1313618 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 8960637 Nrde2 NRDE-2, necessary for RNA interference, domain containing gene DOID:0080054 achondrogenesis type IA ISO RGD:1351142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8960637 Nrde2 NRDE-2, necessary for RNA interference, domain containing gene DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ISO RGD:1351142 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss PMID:35861243 8960637 Nrde2 NRDE-2, necessary for RNA interference, domain containing gene DOID:630 genetic disease ISO RGD:1351142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960637 Nrde2 NRDE-2, necessary for RNA interference, domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8960655 Fam161b FAM161 centrosomal protein B gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1319187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 8960655 Fam161b FAM161 centrosomal protein B gene DOID:1059 intellectual disability ISO RGD:1319187 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8960655 Fam161b FAM161 centrosomal protein B gene DOID:630 genetic disease ISO RGD:1319187 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960685 Kcnh7 potassium voltage-gated channel subfamily H member 7 gene DOID:12849 autistic disorder ISO RGD:734396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 8960685 Kcnh7 potassium voltage-gated channel subfamily H member 7 gene DOID:630 genetic disease ISO RGD:734396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960705 Icam2 intercellular adhesion molecule 2 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1351795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 8960705 Icam2 intercellular adhesion molecule 2 gene DOID:1790 malignant mesothelioma ISO RGD:1351795 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 8960705 Icam2 intercellular adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1351795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960705 Icam2 intercellular adhesion molecule 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8960705 Icam2 intercellular adhesion molecule 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8960763 Ggt7 gamma-glutamyltransferase 7 gene DOID:2843 long QT syndrome ISO RGD:731694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8960763 Ggt7 gamma-glutamyltransferase 7 gene DOID:630 genetic disease ISO RGD:731694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960796 Tex264 testis expressed 264, ER-phagy receptor gene DOID:630 genetic disease ISO RGD:1347640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960805 Smim20 small integral membrane protein 20 gene DOID:630 genetic disease ISO RGD:3418804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960817 Rcn2 reticulocalbin 2 gene DOID:2717 Bloom syndrome ISO RGD:733014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8960817 Rcn2 reticulocalbin 2 gene DOID:5419 schizophrenia ISO RGD:733014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8960817 Rcn2 reticulocalbin 2 gene DOID:630 genetic disease ISO RGD:733014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960817 Rcn2 reticulocalbin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8960817 Rcn2 reticulocalbin 2 gene DOID:9256 colorectal cancer ISO RGD:733014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8960833 Ufm1 ubiquitin fold modifier 1 gene DOID:0080296 hypomyelinating leukodystrophy 14 ISO RGD:1344837 D RGD:7240710 20190315 OMIM 8960833 Ufm1 ubiquitin fold modifier 1 gene DOID:0080296 hypomyelinating leukodystrophy 14 ISO RGD:1344837 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 PMID:25741868|PMID:28492532|PMID:28931644|PMID:29868776|PMID:32860008|PMID:34573312 8960833 Ufm1 ubiquitin fold modifier 1 gene DOID:630 genetic disease ISO RGD:1344837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960846 Tbc1d30 TBC1 domain family member 30 gene DOID:630 genetic disease ISO RGD:2291766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960874 Ints10 integrator complex subunit 10 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1602701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8960874 Ints10 integrator complex subunit 10 gene DOID:630 genetic disease ISO RGD:1602701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960907 Odf2l outer dense fiber of sperm tails 2 like gene DOID:630 genetic disease ISO RGD:1606519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960935 Ifnk interferon kappa gene DOID:630 genetic disease ISO RGD:1319166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960938 Bex2 brain expressed X-linked 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8960938 Bex2 brain expressed X-linked 2 gene DOID:12849 autistic disorder ISO RGD:1353223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8960938 Bex2 brain expressed X-linked 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1353223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 8960938 Bex2 brain expressed X-linked 2 gene DOID:630 genetic disease ISO RGD:1353223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960970 Smim11 small integral membrane protein 11 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1351649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8960970 Smim11 small integral membrane protein 11 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8960970 Smim11 small integral membrane protein 11 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1351649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8960970 Smim11 small integral membrane protein 11 gene DOID:0110648 long QT syndrome 6 ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:25640679|PMID:28492532 8960970 Smim11 small integral membrane protein 11 gene DOID:1588 thrombocytopenia ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 8960970 Smim11 small integral membrane protein 11 gene DOID:2843 long QT syndrome ISO RGD:1351649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:25640679|PMID:28492532 8960970 Smim11 small integral membrane protein 11 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:1351649 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome PMID:32581362 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 ISO RGD:1603968 D RGD:7240710 20210414 OMIM 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 ISO RGD:1603968 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 7 | ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features PMID:25741868|PMID:33459760 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:440 neuromuscular disease ISO RGD:1603968 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorder PMID:25741868|PMID:33459760 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:630 genetic disease ISO RGD:1603968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8960978 Vwa1 von Willebrand factor A domain containing 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8960987 Hcar2 hydroxycarboxylic acid receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1352808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21655214 8960987 Hcar2 hydroxycarboxylic acid receptor 2 gene DOID:5419 schizophrenia ISO RGD:1352808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18639743 8960987 Hcar2 hydroxycarboxylic acid receptor 2 gene DOID:630 genetic disease ISO RGD:1352808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8960987 Hcar2 hydroxycarboxylic acid receptor 2 gene DOID:8893 psoriasis ISO RGD:1352808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18722346 8960987 Hcar2 hydroxycarboxylic acid receptor 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1352808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21655214 8960987 Hcar2 hydroxycarboxylic acid receptor 2 gene DOID:9007763 Flushing ISO RGD:1352808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16322797 8960992 Lrrc15 leucine rich repeat containing 15 gene DOID:630 genetic disease ISO RGD:733250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961001 Tcaf2 TRPM8 channel associated factor 2 gene DOID:630 genetic disease ISO RGD:1603511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961022 Shroom3 shroom family member 3 gene DOID:630 genetic disease ISO RGD:1602873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961022 Shroom3 shroom family member 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1602873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8961038 Znf24 zinc finger protein 24 gene DOID:1059 intellectual disability ISO RGD:1344102 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8961038 Znf24 zinc finger protein 24 gene DOID:630 genetic disease ISO RGD:1344102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961049 Snai3 snail family transcriptional repressor 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1320115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 8961049 Snai3 snail family transcriptional repressor 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1320115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8961049 Snai3 snail family transcriptional repressor 3 gene DOID:14780 KBG syndrome ISO RGD:1320115 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8961049 Snai3 snail family transcriptional repressor 3 gene DOID:630 genetic disease ISO RGD:1320115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961049 Snai3 snail family transcriptional repressor 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1320115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 8961049 Snai3 snail family transcriptional repressor 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1320115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8961076 Cluh clustered mitochondria homolog gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1601881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 8961076 Cluh clustered mitochondria homolog gene DOID:10487 Hirschsprung's disease ISO RGD:1601881 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8961076 Cluh clustered mitochondria homolog gene DOID:630 genetic disease ISO RGD:1601881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1558298 D RGD:9068941 20220825 MouseDO OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:0060282 persistent hyperplastic primary vitreous ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous PMID:25741868 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:0060693 Brunner syndrome ISO RGD:1343189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome PMID:17296899|PMID:20340138|PMID:22382802|PMID:28492532|PMID:30452590|PMID:8211186 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:0060844 Norrie disease ISO RGD:1343189 D RGD:7240710 20180130 OMIM 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:0060844 Norrie disease ISO RGD:1343189 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Atrophia bulborum hereditaria PMID:10484772|PMID:10773814|PMID:11337749|PMID:11748312|PMID:1303235|PMID:1303264|PMID:1307245|PMID:14635119|PMID:15776010|PMID:16970763|PMID:17296899|PMID:17334993|PMID:20340138|PMID:20385941|PMID:20491809|PMID:22563645|PMID:22786811|PMID:23141577|PMID:25711638|PMID:25741868|PMID:26158506|PMID:26547627|PMID:28492532|PMID:30097784|PMID:30311386|PMID:30452590|PMID:31030433|PMID:31456290|PMID:7558002|PMID:7627181|PMID:7795608|PMID:7814011|PMID:8069314|PMID:8240113|PMID:8268931|PMID:8535448|PMID:8790105|PMID:8832723|PMID:8990009|PMID:9143917|PMID:9143918|PMID:9382152 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:0111413 X-linked exudative vitreoretinopathy 2 ISO RGD:1343189 D RGD:7240710 20180214 OMIM 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:0111413 X-linked exudative vitreoretinopathy 2 ISO RGD:1343189 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 2, X-linked | ClinVar Annotator: match by term: Exudative vitreoretinopathy, X-linked PMID:11337749|PMID:1307245|PMID:17050281|PMID:17296899|PMID:20491809|PMID:25741868|PMID:26158506|PMID:28492532|PMID:7558002|PMID:7795608|PMID:8252044|PMID:8457509|PMID:8535448|PMID:8832723|PMID:8946107|PMID:9143917|PMID:9382152|PMID:95062|PMID:9618247 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:12849 autistic disorder ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:13025 retinopathy of prematurity severity ISO RGD:1343189 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.R121W, p.L108P (human) PMID:9152134|REF_RGD_ID:8694210 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:3612 retinitis ISO RGD:1343189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:4449 macular retinal edema ISO RGD:1343189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:5327 retinal detachment ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal detachment PMID:25741868 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:630 genetic disease ISO RGD:1343189 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20340138|PMID:28492532 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:7765 Coats disease ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative retinopathy PMID:26908610 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:9002525 Hereditary Eye Diseases ISO RGD:1343189 D RGD:9068941 20200609 RGD Norrie Disease, OMIM:310600, DNA:point mutations:exon PMID:1303235|REF_RGD_ID:1600222 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1558298 D RGD:9068941 20200609 RGD PMID:20053900|REF_RGD_ID:8694208 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:9004538 Hearing Loss ISO RGD:1343189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:14635119|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31456290 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:9007748 Retinal Neovascularization ISO RGD:1343189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29654250 8961118 Ndp norrin cystine knot growth factor NDP gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1343189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:1316706 D RGD:9068941 20220825 MouseDO OMIM:300486 | OMIM:300860 | OMIM:309583 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:1059 intellectual disability ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:12849 autistic disorder ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:1826 epilepsy ISO RGD:1316705 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:2843 long QT syndrome ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:630 genetic disease ISO RGD:1316705 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25954003|PMID:27618451|PMID:27939639|PMID:27939640|PMID:28490743|PMID:28492532 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:9002914 Familial Sudden Death ISO RGD:1316705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sudden unexplained death in childhood PMID:25741868|PMID:32652122 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1316705 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:32652122 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:9008582 Developmental Disease ISO RGD:1316705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis ISO RGD:1316705 D RGD:7240710 20190315 OMIM 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis ISO RGD:1316705 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BRPF1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis PMID:25741868|PMID:27939639|PMID:27939640|PMID:28492532|PMID:32010779|PMID:32652122 8961125 Brpf1 bromodomain and PHD finger containing 1 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1316705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8961162 Map3k19 mitogen-activated protein kinase kinase kinase 19 gene DOID:630 genetic disease ISO RGD:1604798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961201 Slc17a6 solute carrier family 17 member 6 gene DOID:1059 intellectual disability ISO RGD:730912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8961201 Slc17a6 solute carrier family 17 member 6 gene DOID:224 transient cerebral ischemia ISO RGD:620531 D RGD:9068941 20200609 RGD PMID:23458738|REF_RGD_ID:9999193 8961201 Slc17a6 solute carrier family 17 member 6 gene DOID:630 genetic disease ISO RGD:730912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961201 Slc17a6 solute carrier family 17 member 6 gene DOID:8927 learning disability ISO RGD:730912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 8961201 Slc17a6 solute carrier family 17 member 6 gene DOID:9008023 Memory Disorders ISO RGD:730912 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21295146 8961220 Rab43 RAB43, member RAS oncogene family gene DOID:0111947 immunodeficiency 21 ISO RGD:1603859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8961220 Rab43 RAB43, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1603859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961220 Rab43 RAB43, member RAS oncogene family gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8961220 Rab43 RAB43, member RAS oncogene family gene DOID:9270 alkaptonuria ISO RGD:1603859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8961227 Ncor2 nuclear receptor corepressor 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1321111 D RGD:9068941 20200609 RGD PMID:19904269|REF_RGD_ID:2314971 8961227 Ncor2 nuclear receptor corepressor 2 gene DOID:2871 endometrial carcinoma ISO RGD:1321111 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:14751175|REF_RGD_ID:2298984 8961227 Ncor2 nuclear receptor corepressor 2 gene DOID:4971 myelofibrosis ISO RGD:1321112 D RGD:9068941 20220825 MouseDO OMIM:254450 8961227 Ncor2 nuclear receptor corepressor 2 gene DOID:630 genetic disease ISO RGD:1321111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961227 Ncor2 nuclear receptor corepressor 2 gene DOID:8398 osteoarthritis susceptibility ISO RGD:1321111 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 8961227 Ncor2 nuclear receptor corepressor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8961227 Ncor2 nuclear receptor corepressor 2 gene DOID:9538 multiple myeloma ISO RGD:1321111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8961284 Tle6 TLE family member 6, subcortical maternal complex member gene DOID:630 genetic disease ISO RGD:1343822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961284 Tle6 TLE family member 6, subcortical maternal complex member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8961284 Tle6 TLE family member 6, subcortical maternal complex member gene DOID:9006818 Oocyte/Zygote/Embryo Maturation Arrest 15 ISO RGD:1343822 D RGD:7240710 20190315 OMIM 8961284 Tle6 TLE family member 6, subcortical maternal complex member gene DOID:9006818 Oocyte/Zygote/Embryo Maturation Arrest 15 ISO RGD:1343822 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Preimplantation embryonic lethality 1 PMID:25741868|PMID:26537248|PMID:36271123 8961304 Tmem53 transmembrane protein 53 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8961304 Tmem53 transmembrane protein 53 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8961304 Tmem53 transmembrane protein 53 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603008 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8961304 Tmem53 transmembrane protein 53 gene DOID:0112340 craniotubular dysplasia Ikegawa type ISO RGD:1603008 D RGD:7240710 20220309 OMIM 8961304 Tmem53 transmembrane protein 53 gene DOID:0112340 craniotubular dysplasia Ikegawa type ISO RGD:1603008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniotubular dysplasia, Ikegawa type | ClinVar Annotator: match by term: TMEM53-related craniotubular dysplasia PMID:25741868|PMID:33824347 8961304 Tmem53 transmembrane protein 53 gene DOID:630 genetic disease ISO RGD:1603008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:0060903 thrombosis ISO RGD:620917 D RGD:9068941 20200609 RGD PMID:15834429|REF_RGD_ID:1580861 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:10283 prostate cancer disease_progression ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:18372911|REF_RGD_ID:13506810 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:10283 prostate cancer treatment ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:20103642|REF_RGD_ID:13506809 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:1380 endometrial cancer onset ISO RGD:732496 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium (human) PMID:28002804|REF_RGD_ID:13674181 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:1984 rectal benign neoplasm disease_progression ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:25473181|REF_RGD_ID:13432031 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:18755892|REF_RGD_ID:13217420 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:3068 glioblastoma ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:21188471|REF_RGD_ID:13782050 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:3068 glioblastoma disease_progression ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:26956052|REF_RGD_ID:11343921 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:5419 schizophrenia ISO RGD:732496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:630 genetic disease ISO RGD:732496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620917 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9000081 Lymphatic Metastasis ISO RGD:732496 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms PMID:25550888|REF_RGD_ID:13432030 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:732496 D RGD:9068941 20220421 RGD PMID:28756200|REF_RGD_ID:151893490 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9002304 Prostatic Neoplasms ISO RGD:732496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9007715 Endometrial Neoplasms ISO RGD:732496 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium (human) PMID:17427168|REF_RGD_ID:13441594 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:732496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9256 colorectal cancer ameliorates ISO RGD:732496 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 8961332 Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:732496 D RGD:9068941 20200609 RGD PMID:11812753|REF_RGD_ID:13506799 8961360 LOC102015988 olfactory receptor 4M1 gene DOID:630 genetic disease ISO RGD:1354390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:621283 D RGD:9068941 20240210 RGD mRNA:decreased expression:brain (rat) PMID:26180184|REF_RGD_ID:11074449 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050731 vitamin B12 deficiency ISO RGD:621283 D RGD:9068941 20200609 RGD protein:decreased expression,decreased activity:liver: PMID:14646334|REF_RGD_ID:8694080 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050733 methylmalonic aciduria and homocystinuria type cblG ISO RGD:731933 D RGD:7240710 20240313 OMIM 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050733 methylmalonic aciduria and homocystinuria type cblG ISO RGD:731933 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:16199547|PMID:17576681|PMID:20890936|PMID:21615938|PMID:22887477|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32533987|PMID:32581362|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907|PMID:9536098|PMID:9683607 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050733 methylmalonic aciduria and homocystinuria type cblG ISO RGD:731933 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:16199547|PMID:17576681|PMID:20890936|PMID:21615938|PMID:22887477|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25758715|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32533987|PMID:32581362|PMID:34625984|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907|PMID:9536098|PMID:9683607 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0050873 follicular lymphoma ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16410450 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060041 autism spectrum disorder ISO RGD:731933 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060058 lymphoma ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799656 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:28492532 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:731933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0080016 spina bifida ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:12375236|REF_RGD_ID:1302512 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0112256 homocystinuria-megaloblastic anemia cblG type ISO RGD:731933 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:16199547|PMID:17576681|PMID:20890936|PMID:21615938|PMID:22887477|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32533987|PMID:32581362|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907|PMID:9536098|PMID:9683607 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:0112256 homocystinuria-megaloblastic anemia cblG type ISO RGD:731933 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:16199547|PMID:17576681|PMID:20890936|PMID:21615938|PMID:22887477|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25758715|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32533987|PMID:32581362|PMID:34625984|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907|PMID:9536098|PMID:9683607 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1059 intellectual disability ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:10763 hypertension ISO RGD:731933 D RGD:9068941 20200609 RGD PMID:15148588|REF_RGD_ID:1581050 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:19837268|REF_RGD_ID:6893521 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:114 heart disease ISO RGD:731933 D RGD:9068941 20200609 RGD PMID:15202865|REF_RGD_ID:1581049 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:12336 male infertility ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16861746 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:12849 autistic disorder susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G (human) PMID:19440165|REF_RGD_ID:5508202 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1793 pancreatic cancer no_association ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:Polymorphism: :rs1805087 (human) PMID:16737574|REF_RGD_ID:2317120 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1793 pancreatic cancer susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:Polymorphism: :rs1805087 (human) PMID:18843018|REF_RGD_ID:2317118 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1826 epilepsy ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:28492532|PMID:28666289|PMID:32581362|PMID:8968736|PMID:9235907 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:1826 epilepsy ISO RGD:731933 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:28492532|PMID:28666289|PMID:32533987|PMID:32581362|PMID:8968736|PMID:9235907 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:2986 IgA glomerulonephritis ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism:Cds :2756A>G(human) PMID:21737517|REF_RGD_ID:7207085 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:3526 cerebral infarction susceptibility ISO RGD:731933 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes:multiple PMID:20458436|REF_RGD_ID:401794454 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:630 genetic disease ISO RGD:731933 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32533987|PMID:32581362|PMID:8968736|PMID:9235907 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:655 inherited metabolic disorder ISO RGD:731933 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:10323741|PMID:12068375|PMID:12154064|PMID:12375236|PMID:12923861|PMID:16199547|PMID:20890936|PMID:21615938|PMID:25227144|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:26198278|PMID:28492532|PMID:28666289|PMID:32533987|PMID:32581362|PMID:8968736|PMID:8968737|PMID:9013615|PMID:9235907|PMID:9683607 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:674 cleft palate ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:74 hematopoietic system disease ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:768 retinoblastoma susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:SNP::2756A>G(human) PMID:20310006|REF_RGD_ID:8694083 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:7693 abdominal aortic aneurysm susceptibility ISO RGD:731933 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes:multiple PMID:18635682|REF_RGD_ID:329853746 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:77 gastrointestinal system disease ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9001234 Prenatal Exposure Delayed Effects sexual_dimorphism ISO RGD:621283 D RGD:9068941 20240210 RGD mRNA:altered expression:hippocampus|hypothalamus (rat) PMID:26180184|REF_RGD_ID:11074449 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:731933 D RGD:7240710 20240313 OMIM 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to PMID:10323741|PMID:12154064|PMID:12375236|PMID:12923861|PMID:25227144|PMID:25741868|PMID:28492532|PMID:8968737|PMID:9013615 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9002704 Leukoencephalopathies ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9003817 Sudden Hearing Loss susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:SNP::2756A>G(human) PMID:16778415|REF_RGD_ID:8694081 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9004538 Hearing Loss susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:SNP::2756A>G(human) PMID:21385350|REF_RGD_ID:7387225 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621283 D RGD:9068941 20200609 RGD protein:decreased activity:liver PMID:18936199|REF_RGD_ID:7207081 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9005695 Malnutrition ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16709328 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437|PMID:19159907 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9008939 Breast Neoplasms ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17595805 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:10323741|PMID:12154064|PMID:12375236|PMID:12923861|PMID:25227144|PMID:25741868|PMID:28492532|PMID:8968737|PMID:9013615 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9263 homocystinuria ISO RGD:731933 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:12068375|PMID:25526710|PMID:25558065|PMID:25741868|PMID:25856670|PMID:28492532|PMID:28666289|PMID:32533987|PMID:32581362|PMID:8968736|PMID:9235907 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9279 hyperhomocysteinemia ISO RGD:731933 D RGD:9068941 20200609 RGD PMID:12068375|REF_RGD_ID:1601425 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9296 cleft lip ISO RGD:731933 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:621283 D RGD:9068941 20200609 RGD PMID:21818837|REF_RGD_ID:7207079 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9538 multiple myeloma susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:17655928|REF_RGD_ID:11075095 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:SNP::rs10925235(human) PMID:26605150|REF_RGD_ID:11531136 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :66A>G(human) PMID:21618417|REF_RGD_ID:11531141 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:22453148|REF_RGD_ID:11531137 8961365 Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:731933 D RGD:9068941 20200609 RGD DNA:polymorphism: :2756A>G(human) PMID:15159311|REF_RGD_ID:11531140 8961409 Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:0070429 combined oxidative phosphorylation deficiency 56 ISO RGD:1602301 D RGD:7240710 20221214 OMIM 8961409 Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:0070429 combined oxidative phosphorylation deficiency 56 ISO RGD:1602301 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 56 PMID:35321494 8961409 Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:630 genetic disease ISO RGD:1602301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961409 Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9000123 Deglutition Disorders ISO RGD:1602301 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:35321494 8961409 Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602301 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8961409 Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog gene DOID:9005603 Muscle Hypotonia ISO RGD:1602301 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:35321494 8961424 Etfa electron transfer flavoprotein subunit alpha gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1342675 D RGD:7240710 20180130 OMIM 8961424 Etfa electron transfer flavoprotein subunit alpha gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1342675 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12486872|PMID:12815589|PMID:1430199|PMID:16199547|PMID:16510302|PMID:16546179|PMID:17576681|PMID:18289905|PMID:1882842|PMID:20674745|PMID:20736750|PMID:23785301|PMID:23867278|PMID:25741868|PMID:26409463|PMID:28492532|PMID:29096039|PMID:30510944|PMID:31268564|PMID:33450351|PMID:33768790|PMID:9334218|PMID:9536098 8961424 Etfa electron transfer flavoprotein subunit alpha gene DOID:2717 Bloom syndrome ISO RGD:1342675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8961424 Etfa electron transfer flavoprotein subunit alpha gene DOID:5419 schizophrenia ISO RGD:1342675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8961424 Etfa electron transfer flavoprotein subunit alpha gene DOID:630 genetic disease ISO RGD:1342675 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16510302|PMID:23785301|PMID:25741868|PMID:28492532 8961424 Etfa electron transfer flavoprotein subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1342675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8961424 Etfa electron transfer flavoprotein subunit alpha gene DOID:8398 osteoarthritis ISO RGD:1342675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8961424 Etfa electron transfer flavoprotein subunit alpha gene DOID:9001253 Glutaric Aciduria 2 ISO RGD:1342675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric acidemia type 2A PMID:16510302|PMID:17576681|PMID:18289905|PMID:23785301|PMID:25741868|PMID:28492532|PMID:29096039|PMID:31268564|PMID:9536098 8961424 Etfa electron transfer flavoprotein subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1342675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8961440 Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:2999 granulosa cell tumor ISO RGD:735310 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 8961440 Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8961440 Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:6000 congestive heart failure ISO RGD:735310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8961440 Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:630 genetic disease ISO RGD:735310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961440 Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta gene DOID:9970 obesity ISO RGD:735310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 8961456 Nsun3 NOP2/Sun RNA methyltransferase 3 gene DOID:0111003 Joubert syndrome 8 ISO RGD:1351028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:28492532 8961456 Nsun3 NOP2/Sun RNA methyltransferase 3 gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1351028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 8961456 Nsun3 NOP2/Sun RNA methyltransferase 3 gene DOID:0112112 combined oxidative phosphorylation deficiency 48 ISO RGD:1351028 D RGD:7240710 20200930 OMIM 8961456 Nsun3 NOP2/Sun RNA methyltransferase 3 gene DOID:0112112 combined oxidative phosphorylation deficiency 48 ISO RGD:1351028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 48 PMID:27356879|PMID:28492532|PMID:32671698 8961456 Nsun3 NOP2/Sun RNA methyltransferase 3 gene DOID:2451 protein S deficiency ISO RGD:1351028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 8961456 Nsun3 NOP2/Sun RNA methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1351028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8961492 Stoml3 stomatin like 3 gene DOID:630 genetic disease ISO RGD:1322361 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961508 Cd69 CD69 molecule gene DOID:630 genetic disease ISO RGD:1351395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961508 Cd69 CD69 molecule gene DOID:848 arthritis ISO RGD:1351395 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12882836 8961508 Cd69 CD69 molecule gene DOID:9002457 Experimental Arthritis ISO RGD:1351395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12882836 8961508 Cd69 CD69 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1351395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8961508 Cd69 CD69 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 8961523 Mrps26 mitochondrial ribosomal protein S26 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1318680 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8961523 Mrps26 mitochondrial ribosomal protein S26 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1318680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8961523 Mrps26 mitochondrial ribosomal protein S26 gene DOID:630 genetic disease ISO RGD:1318680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961535 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8961535 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1353460 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8961535 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8961535 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:10907 microcephaly ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8961535 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 8961535 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:1826 epilepsy ISO RGD:1353460 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8961535 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:1909 melanoma ISO RGD:1353460 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8961535 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:630 genetic disease ISO RGD:1353460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961535 Dcbld1 discoidin, CUB and LCCL domain containing 1 gene DOID:9000495 Tremor ISO RGD:1353460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8961551 Ado 2-aminoethanethiol dioxygenase gene DOID:630 genetic disease ISO RGD:1317890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961556 Tbce tubulin folding cofactor E gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1313614 D RGD:7240710 20180130 OMIM 8961556 Tbce tubulin folding cofactor E gene DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome ISO RGD:1313614 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome PMID:12389028|PMID:12389029|PMID:16199547|PMID:16938882|PMID:17576681|PMID:20152369|PMID:25097779|PMID:25741868|PMID:26231322|PMID:26336027|PMID:27666369|PMID:28492532|PMID:30080992|PMID:30638765|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:9536098 8961556 Tbce tubulin folding cofactor E gene DOID:0080722 Kenny-Caffey syndrome type 1 ISO RGD:1313614 D RGD:7240710 20180130 OMIM 8961556 Tbce tubulin folding cofactor E gene DOID:0080722 Kenny-Caffey syndrome type 1 ISO RGD:1313614 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1 PMID:12389028|PMID:15645691|PMID:16199547|PMID:2001103|PMID:20152369|PMID:25097779|PMID:25741868|PMID:26231322|PMID:26336027|PMID:27666369|PMID:28492532|PMID:30080992|PMID:30638765|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193|PMID:7538982|PMID:9475091 8961556 Tbce tubulin folding cofactor E gene DOID:0080723 Kenny-Caffey syndrome type 2 ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 8961556 Tbce tubulin folding cofactor E gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1313614 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 8961556 Tbce tubulin folding cofactor E gene DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 ISO RGD:1313614 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 PMID:23453667|PMID:25326637|PMID:25741868|PMID:28492532 8961556 Tbce tubulin folding cofactor E gene DOID:104 bacterial infectious disease ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 8961556 Tbce tubulin folding cofactor E gene DOID:10907 microcephaly ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8961556 Tbce tubulin folding cofactor E gene DOID:11199 hypoparathyroidism ISO RGD:1313614 D RGD:9068941 20200609 RGD hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410 PMID:12389028|REF_RGD_ID:1599303 8961556 Tbce tubulin folding cofactor E gene DOID:1540 parathyroid carcinoma ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8961556 Tbce tubulin folding cofactor E gene DOID:1923 disorder of sexual development ISO RGD:1313614 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:16199547|PMID:25741868|PMID:27666369|PMID:28492532|PMID:33652732|PMID:34134906|PMID:34356170|PMID:35432193 8961556 Tbce tubulin folding cofactor E gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:28492532 8961556 Tbce tubulin folding cofactor E gene DOID:4254 osteosclerosis ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 8961556 Tbce tubulin folding cofactor E gene DOID:630 genetic disease ISO RGD:1313614 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12389028|PMID:15645691|PMID:16199547|PMID:17576681|PMID:2001103|PMID:25741868|PMID:27666369|PMID:28492532|PMID:34134906|PMID:34356170|PMID:7538982|PMID:9475091|PMID:9536098 8961556 Tbce tubulin folding cofactor E gene DOID:9001487 Facies ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 8961556 Tbce tubulin folding cofactor E gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1313614 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 8961556 Tbce tubulin folding cofactor E gene DOID:9005242 Progressive Encephalopathy with Amyotrophy and Optic Atrophy ISO RGD:1313614 D RGD:7240710 20190315 OMIM 8961556 Tbce tubulin folding cofactor E gene DOID:9005242 Progressive Encephalopathy with Amyotrophy and Optic Atrophy ISO RGD:1313614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy PMID:25741868|PMID:27666369|PMID:28492532|PMID:34134906 8961556 Tbce tubulin folding cofactor E gene DOID:9007661 Dwarfism ISO RGD:1313614 D RGD:9068941 20200609 RGD Kenny-Caffey syndrome , OMIM:244460 PMID:12389028|REF_RGD_ID:1599303 8961556 Tbce tubulin folding cofactor E gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313614 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12389028 8961556 Tbce tubulin folding cofactor E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8961579 Vps4b vacuolar protein sorting 4 homolog B gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1314314 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8961579 Vps4b vacuolar protein sorting 4 homolog B gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1314314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 8961579 Vps4b vacuolar protein sorting 4 homolog B gene DOID:630 genetic disease ISO RGD:1314314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961594 Map6 microtubule associated protein 6 gene DOID:1059 intellectual disability ISO RGD:1606581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8961594 Map6 microtubule associated protein 6 gene DOID:5419 schizophrenia ISO RGD:62096 D RGD:9068941 20220825 MouseDO OMIM:181500 8961594 Map6 microtubule associated protein 6 gene DOID:630 genetic disease ISO RGD:1606581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961594 Map6 microtubule associated protein 6 gene DOID:9002362 Hyperkinesis ISO RGD:1606581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16046005 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1344323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0050476 Barth syndrome ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1344323 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:12849 autistic disorder ISO RGD:1344323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:13628 favism ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:2729 dyskeratosis congenita ISO RGD:1344323 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:607 paraplegia ISO RGD:1344323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1557359 D RGD:9068941 20200609 RGD mRNA:increased expression:embryo: PMID:18323671|REF_RGD_ID:9586066 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9002720 Splenomegaly ISO RGD:1344323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9005463 Occupational Diseases ISO RGD:1344323 D RGD:9068941 20200609 RGD PMID:24973494|REF_RGD_ID:9586067 8961613 Brcc3 BRCA1/BRCA2-containing complex subunit 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1344323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 8961638 Shisa5 shisa family member 5 gene DOID:630 genetic disease ISO RGD:1602716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961638 Shisa5 shisa family member 5 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8961638 Shisa5 shisa family member 5 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1602716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8961650 Senp7 SUMO specific peptidase 7 gene DOID:630 genetic disease ISO RGD:1313579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961691 Fam3d FAM3 metabolism regulating signaling molecule D gene DOID:5419 schizophrenia ISO RGD:1313583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8961691 Fam3d FAM3 metabolism regulating signaling molecule D gene DOID:630 genetic disease ISO RGD:1313583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961726 Cxadr CXADR Ig-like cell adhesion molecule gene DOID:10652 Alzheimer's disease ISO RGD:1346916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8961726 Cxadr CXADR Ig-like cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1346916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961726 Cxadr CXADR Ig-like cell adhesion molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8961726 Cxadr CXADR Ig-like cell adhesion molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8961738 Brd10 bromodomain containing 10 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1323134 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8961738 Brd10 bromodomain containing 10 gene DOID:630 genetic disease ISO RGD:1323134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961756 Sertad2 SERTA domain containing 2 gene DOID:630 genetic disease ISO RGD:1350169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961768 Cilp cartilage intermediate layer protein gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8961768 Cilp cartilage intermediate layer protein gene DOID:2717 Bloom syndrome ISO RGD:1312971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8961768 Cilp cartilage intermediate layer protein gene DOID:630 genetic disease ISO RGD:1312971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961768 Cilp cartilage intermediate layer protein gene DOID:8398 osteoarthritis disease_progression ISO RGD:1312971 D RGD:9068941 20200609 RGD PMID:15334463|REF_RGD_ID:1625347 8961768 Cilp cartilage intermediate layer protein gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1312971 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 8961768 Cilp cartilage intermediate layer protein gene DOID:9000585 Intervertebral Disc Disease susceptibility ISO RGD:1312971 D RGD:7240710 20230505 OMIM 8961768 Cilp cartilage intermediate layer protein gene DOID:9256 colorectal cancer ISO RGD:1312971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8961789 Map3k9 mitogen-activated protein kinase kinase kinase 9 gene DOID:1909 melanoma ISO RGD:1352186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22197930 8961789 Map3k9 mitogen-activated protein kinase kinase kinase 9 gene DOID:630 genetic disease ISO RGD:1352186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:0050160 inhalation anthrax disease_progression ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:21124994|REF_RGD_ID:5135283 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:0080600 COVID-19 ISO RGD:1348195 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:0080600 COVID-19 ISO RGD:1348195 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:0080600 COVID-19 severity ISO RGD:1348195 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:0080642 Middle East respiratory syndrome ISO RGD:1332044 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:0081267 graft-versus-host disease ISO RGD:1332044 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:intestine, liver, lung PMID:19218194|REF_RGD_ID:5135435 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:10247 pleurisy ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:14527170|REF_RGD_ID:5135449 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:10533 viral pneumonia ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:17655904|REF_RGD_ID:5135437 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:10608 celiac disease ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:1205 allergic disease ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:12236 primary biliary cholangitis ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1332044 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15916706|REF_RGD_ID:5135444 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:13001 carotid stenosis ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26564003 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:serum, respiratory system fluid/secretion PMID:17550373|REF_RGD_ID:5135438 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:13949 interstitial cystitis ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18957084 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:14004 thoracic aortic aneurysm severity ISO RGD:1348195 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:16014397|REF_RGD_ID:5135442 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:14095 boutonneuse fever ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:14507644|REF_RGD_ID:5135450 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:1485 cystic fibrosis ISO RGD:1348195 D RGD:9068941 20200609 RGD PMID:19597126|REF_RGD_ID:5135456 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:1790 malignant mesothelioma ISO RGD:1348195 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:12097412|PMID:16709871|REF_RGD_ID:5135441|REF_RGD_ID:5135451 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2799 bronchiolitis obliterans ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:12097412|REF_RGD_ID:5135451 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2841 asthma ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:15210824|REF_RGD_ID:5135447 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:289 endometriosis ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30579999 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1332044 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:19906920|REF_RGD_ID:4891446 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1348195 D RGD:9068941 20200619 RGD mRNA, protein: increased expression, altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1348195 D RGD:9068941 20200702 RGD protein:increased expression:bronchoalveolar lavage (human) PMID:15888207|REF_RGD_ID:34201108 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1348195 D RGD:9068941 20200702 RGD protein:increased expression:serum (human) PMID:15602737|REF_RGD_ID:32716399 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1348195 D RGD:9068941 20200702 RGD protein:increased expression:plasma (human) PMID:16195357|REF_RGD_ID:30309218 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1348195 D RGD:9068941 20200619 RGD PMID:15781938|REF_RGD_ID:30309220 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:3082 interstitial lung disease ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:19816001|REF_RGD_ID:5135305 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:3082 interstitial lung disease ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19565490|REF_RGD_ID:5135306 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348195 D RGD:9068941 20200609 RGD PMID:19229703|REF_RGD_ID:4892070 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:17925429|REF_RGD_ID:5135436 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:399 tuberculosis ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19281538|REF_RGD_ID:5135308 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:418 systemic scleroderma ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21049277|PMID:21303517|REF_RGD_ID:5135279|REF_RGD_ID:5135284 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:552 pneumonia ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:15265940|REF_RGD_ID:5135445 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:552 pneumonia ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:552 pneumonia ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17052299|REF_RGD_ID:5135440 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:630 genetic disease ISO RGD:1348195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:14991597|REF_RGD_ID:5135448 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1348195 D RGD:9068941 20200609 RGD mRNA:increased expression:alveolar macrophage PMID:15725351|REF_RGD_ID:5135490 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:8544 chronic fatigue syndrome ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:874 bacterial pneumonia ISO RGD:1332044 D RGD:9068941 20200609 RGD PMID:15618188|REF_RGD_ID:5135459 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1348195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1332044 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20381636|REF_RGD_ID:5135285 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1332044 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1332044 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21273392|REF_RGD_ID:5683877 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9003617 Carrington Syndrome ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:15956791|REF_RGD_ID:5135443 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9004009 Reperfusion Injury ISO RGD:1332044 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;protein:increased expression:lung PMID:19433855|REF_RGD_ID:5135307 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9007244 Paramyxoviridae Infections ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:20182399|REF_RGD_ID:4891406 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:628798 D RGD:9068941 20200609 RGD PMID:15843529|REF_RGD_ID:1598501 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9008939 Breast Neoplasms ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:9675 pulmonary emphysema ISO RGD:1348195 D RGD:9068941 20200609 RGD protein:increased expression:lung, lymphocyte PMID:15526056|REF_RGD_ID:4892104 8961807 Cxcl9 C-X-C motif chemokine ligand 9 gene DOID:986 alopecia areata ISO RGD:1348195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22358057 8961815 Tagap T cell activation RhoGTPase activating protein gene DOID:0080600 COVID-19 ISO RGD:1318496 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8961815 Tagap T cell activation RhoGTPase activating protein gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1318496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8961815 Tagap T cell activation RhoGTPase activating protein gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1318496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 8961815 Tagap T cell activation RhoGTPase activating protein gene DOID:630 genetic disease ISO RGD:1318496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961815 Tagap T cell activation RhoGTPase activating protein gene DOID:7148 rheumatoid arthritis ISO RGD:1318496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 8961815 Tagap T cell activation RhoGTPase activating protein gene DOID:8778 Crohn's disease ISO RGD:1318496 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:21102463|PMID:36038634 8961815 Tagap T cell activation RhoGTPase activating protein gene DOID:8893 psoriasis ISO RGD:1318496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 8961829 Rxfp1 relaxin family peptide receptor 1 gene DOID:11372 megacolon ISO RGD:1351067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8961829 Rxfp1 relaxin family peptide receptor 1 gene DOID:289 endometriosis ISO RGD:1351067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8961829 Rxfp1 relaxin family peptide receptor 1 gene DOID:630 genetic disease ISO RGD:1351067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961865 Clnk cytokine dependent hematopoietic cell linker gene DOID:12306 vitiligo ISO RGD:1605010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 8961865 Clnk cytokine dependent hematopoietic cell linker gene DOID:630 genetic disease ISO RGD:1605010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961898 Srrt serrate, RNA effector molecule gene DOID:3068 glioblastoma ISO RGD:1604811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30542699 8961898 Srrt serrate, RNA effector molecule gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8961898 Srrt serrate, RNA effector molecule gene DOID:630 genetic disease ISO RGD:1604811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961934 Surf6 surfeit 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8961934 Surf6 surfeit 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8961934 Surf6 surfeit 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8961934 Surf6 surfeit 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8961934 Surf6 surfeit 6 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8961934 Surf6 surfeit 6 gene DOID:3652 Leigh disease ISO RGD:1316549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8961934 Surf6 surfeit 6 gene DOID:630 genetic disease ISO RGD:1316549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8961949 Vps13c vacuolar protein sorting 13 homolog C gene DOID:0060896 Parkinson's disease 23 ISO RGD:1348377 D RGD:7240710 20190315 OMIM 8961949 Vps13c vacuolar protein sorting 13 homolog C gene DOID:0060896 Parkinson's disease 23 ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 23 PMID:25741868|PMID:26942284|PMID:28492532 8961949 Vps13c vacuolar protein sorting 13 homolog C gene DOID:10652 Alzheimer's disease ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868 8961949 Vps13c vacuolar protein sorting 13 homolog C gene DOID:14330 Parkinson's disease ISO RGD:1348377 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Parkinson disease PMID:26942284 8961949 Vps13c vacuolar protein sorting 13 homolog C gene DOID:2717 Bloom syndrome ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8961949 Vps13c vacuolar protein sorting 13 homolog C gene DOID:630 genetic disease ISO RGD:1348377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8961949 Vps13c vacuolar protein sorting 13 homolog C gene DOID:9255 frontotemporal dementia ISO RGD:1348377 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26942284|PMID:28492532|PMID:29770609|PMID:31836585|PMID:34875562 8961949 Vps13c vacuolar protein sorting 13 homolog C gene DOID:9256 colorectal cancer ISO RGD:1348377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8962046 Ckmt2 creatine kinase, mitochondrial 2 gene DOID:630 genetic disease ISO RGD:1343148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962046 Ckmt2 creatine kinase, mitochondrial 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8962066 Polr1d RNA polymerase I and III subunit D gene DOID:0080790 Treacher Collins syndrome 2 ISO RGD:1343756 D RGD:7240710 20200708 OMIM 8962066 Polr1d RNA polymerase I and III subunit D gene DOID:0080790 Treacher Collins syndrome 2 ISO RGD:1343756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 2 PMID:21131976|PMID:24603435|PMID:25741868|PMID:28492532|PMID:34397304 8962066 Polr1d RNA polymerase I and III subunit D gene DOID:2908 Treacher Collins syndrome ISO RGD:1343756 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome PMID:24603435 8962066 Polr1d RNA polymerase I and III subunit D gene DOID:303 substance-related disorder ISO RGD:1343756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8962066 Polr1d RNA polymerase I and III subunit D gene DOID:3910 lung adenocarcinoma ISO RGD:1343756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8962066 Polr1d RNA polymerase I and III subunit D gene DOID:630 genetic disease ISO RGD:1343756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962066 Polr1d RNA polymerase I and III subunit D gene DOID:9004538 Hearing Loss ISO RGD:1343756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8962066 Polr1d RNA polymerase I and III subunit D gene DOID:9006205 Animal Disease Models ISO RGD:1343756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8962066 Polr1d RNA polymerase I and III subunit D gene DOID:9008003 Mandibulofacial Dysostosis ISO RGD:1343756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131976 8962076 Lin7c lin-7 homolog C, crumbs cell polarity complex component gene DOID:1059 intellectual disability ISO RGD:735828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8962076 Lin7c lin-7 homolog C, crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:735828 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962121 Utp11 UTP11 small subunit processome component gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8962121 Utp11 UTP11 small subunit processome component gene DOID:630 genetic disease ISO RGD:731994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962137 Cd37 CD37 molecule gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1346523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8962137 Cd37 CD37 molecule gene DOID:630 genetic disease ISO RGD:1346523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962153 Arpp19 cAMP regulated phosphoprotein 19 gene DOID:2717 Bloom syndrome ISO RGD:1606318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8962153 Arpp19 cAMP regulated phosphoprotein 19 gene DOID:607 paraplegia ISO RGD:1606318 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 8962153 Arpp19 cAMP regulated phosphoprotein 19 gene DOID:630 genetic disease ISO RGD:1606318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962153 Arpp19 cAMP regulated phosphoprotein 19 gene DOID:9256 colorectal cancer ISO RGD:1606318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8962160 Apcdd1 APC down-regulated 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1351282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8962160 Apcdd1 APC down-regulated 1 gene DOID:0110698 hypotrichosis 1 ISO RGD:1351282 D RGD:7240710 20180130 OMIM 8962160 Apcdd1 APC down-regulated 1 gene DOID:0110698 hypotrichosis 1 ISO RGD:1351282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 1 PMID:10878665|PMID:20393562|PMID:22512811 8962160 Apcdd1 APC down-regulated 1 gene DOID:1059 intellectual disability ISO RGD:1351282 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8962160 Apcdd1 APC down-regulated 1 gene DOID:543 dystonia ISO RGD:1351282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8962160 Apcdd1 APC down-regulated 1 gene DOID:630 genetic disease ISO RGD:1351282 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8962160 Apcdd1 APC down-regulated 1 gene DOID:9970 obesity ISO RGD:1351282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 8962167 Tnpo2 transportin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1321214 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8962167 Tnpo2 transportin 2 gene DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies ISO RGD:1321214 D RGD:7240710 20211215 OMIM 8962167 Tnpo2 transportin 2 gene DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies ISO RGD:1321214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition PMID:25741868|PMID:34314705 8962167 Tnpo2 transportin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1321214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8962167 Tnpo2 transportin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1321214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8962167 Tnpo2 transportin 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1321214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8962167 Tnpo2 transportin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1321214 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8962167 Tnpo2 transportin 2 gene DOID:630 genetic disease ISO RGD:1321214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962200 Snx24 sorting nexin 24 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1315725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8962200 Snx24 sorting nexin 24 gene DOID:630 genetic disease ISO RGD:1315725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962200 Snx24 sorting nexin 24 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8962200 Snx24 sorting nexin 24 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315725 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8962200 Snx24 sorting nexin 24 gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1315725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 8962215 Gpm6b glycoprotein M6B gene DOID:12849 autistic disorder ISO RGD:1349867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8962215 Gpm6b glycoprotein M6B gene DOID:630 genetic disease ISO RGD:1349867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962215 Gpm6b glycoprotein M6B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8962258 Clxn calaxin gene DOID:0111961 immunodeficiency 26 ISO RGD:1603006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 8962258 Clxn calaxin gene DOID:630 genetic disease ISO RGD:1603006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962258 Clxn calaxin gene DOID:9007615 Primary Ciliary Dyskinesia 53 ISO RGD:1603006 D RGD:7240710 20231206 OMIM 8962258 Clxn calaxin gene DOID:9007615 Primary Ciliary Dyskinesia 53 ISO RGD:1603006 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 53 PMID:36727596 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:0050871 fibroma ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:0050871 fibroma susceptibility ISO RGD:1346318 D RGD:9068941 20200609 RGD PMID:14508707|REF_RGD_ID:1599125 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:0111445 progressive myoclonus epilepsy 10 ISO RGD:1346318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Lafora body disease PMID:28492532 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1346318 D RGD:7240710 20180130 OMIM 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:0111669 hyaline fibromatosis syndrome ISO RGD:1346318 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hyaline fibromatosis syndrome PMID:12973667|PMID:14508707|PMID:15725249|PMID:20331448|PMID:22383261|PMID:23386947|PMID:24088041|PMID:25741868|PMID:26335786|PMID:26633545|PMID:28492532|PMID:28914269|PMID:31455396|PMID:32860008 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:11476 osteoporosis ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:3529 congenital myopathy 1A ISO RGD:1346318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:5338 gingival hypertrophy ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1346318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:7147 ankylosing spondylitis ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062062|PMID:21743469 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:7427 anthrax disease ISO RGD:1561294 D RGD:9068941 20200609 RGD PMID:17054395|REF_RGD_ID:1599126 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:9006081 Osteolysis ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667 8962295 Antxr2 ANTXR cell adhesion molecule 2 gene DOID:9006836 Contracture ISO RGD:1346318 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12973667|PMID:14508707 8962314 Smurf1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:0060001 withdrawal disorder ISO RGD:1603623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 8962314 Smurf1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8962314 Smurf1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1603623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962314 Smurf1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1594738 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:23595775|REF_RGD_ID:10412063 8962314 Smurf1 SMAD specific E3 ubiquitin protein ligase 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1603623 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 8962343 Coq9 coenzyme Q9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1603980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8962343 Coq9 coenzyme Q9 gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1603980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 8962343 Coq9 coenzyme Q9 gene DOID:0070242 primary coenzyme Q10 deficiency 5 ISO RGD:1603980 D RGD:7240710 20180130 OMIM 8962343 Coq9 coenzyme Q9 gene DOID:0070242 primary coenzyme Q10 deficiency 5 ISO RGD:1603980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COQ9-related condition | ClinVar Annotator: match by term: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome PMID:16199547|PMID:19375058|PMID:20495179|PMID:20689595|PMID:22490322|PMID:23255162|PMID:25741868|PMID:25802402|PMID:26081641|PMID:27629047|PMID:28492532|PMID:28736527|PMID:29255295|PMID:30482867 8962343 Coq9 coenzyme Q9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1603980 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8962343 Coq9 coenzyme Q9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8962343 Coq9 coenzyme Q9 gene DOID:630 genetic disease ISO RGD:1603980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:27629047|PMID:28492532|PMID:9536098 8962343 Coq9 coenzyme Q9 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1603980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8962367 Cherp calcium homeostasis endoplasmic reticulum protein gene DOID:630 genetic disease ISO RGD:1313214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962386 Ap2s1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0060702 familial hypocalciuric hypercalcemia 3 ISO RGD:732482 D RGD:7240710 20180130 OMIM 8962386 Ap2s1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0060702 familial hypocalciuric hypercalcemia 3 ISO RGD:732482 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 PMID:1524075|PMID:17576681|PMID:20133464|PMID:23222959|PMID:24081735|PMID:24731014|PMID:25741868|PMID:26082470|PMID:27050234|PMID:27761240|PMID:27913609|PMID:28492532|PMID:29325022|PMID:29420171|PMID:31723423|PMID:9536098 8962386 Ap2s1 adaptor related protein complex 2 subunit sigma 1 gene DOID:0080600 COVID-19 ISO RGD:732482 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8962386 Ap2s1 adaptor related protein complex 2 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:732482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962386 Ap2s1 adaptor related protein complex 2 subunit sigma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8962398 Wrn WRN RecQ like helicase gene DOID:0050902 medulloblastoma ISO RGD:1318280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:16673358|PMID:16786514|PMID:20301687|PMID:24033266|PMID:25182132|PMID:25390333|PMID:25741868|PMID:27667302|PMID:28492532|PMID:8968742|PMID:9225981 8962398 Wrn WRN RecQ like helicase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1318280 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:20443122|PMID:25741868|PMID:28492532 8962398 Wrn WRN RecQ like helicase gene DOID:11162 respiratory failure ISO RGD:1318280 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive pulmonary failure PMID:11863428|PMID:36214313 8962398 Wrn WRN RecQ like helicase gene DOID:1580 diffuse scleroderma ISO RGD:1318280 D RGD:9068941 20200609 RGD PMID:16906373|REF_RGD_ID:10042980 8962398 Wrn WRN RecQ like helicase gene DOID:1612 breast cancer ISO RGD:1318280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10069711|PMID:10220139|PMID:16786514|PMID:24728327|PMID:25741868|PMID:28492532 8962398 Wrn WRN RecQ like helicase gene DOID:2394 ovarian cancer ISO RGD:1318280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:15609317|PMID:24728327|PMID:25637295|PMID:25741868|PMID:28492532 8962398 Wrn WRN RecQ like helicase gene DOID:3393 coronary artery disease ISO RGD:1318280 D RGD:9068941 20200609 RGD PMID:11186893|REF_RGD_ID:1580824 8962398 Wrn WRN RecQ like helicase gene DOID:397 restrictive cardiomyopathy ISO RGD:1318280 D RGD:9068941 20200609 RGD PMID:15916825|REF_RGD_ID:1580820 8962398 Wrn WRN RecQ like helicase gene DOID:5688 Werner syndrome ISO RGD:1318280 D RGD:7240710 20180130 OMIM 8962398 Wrn WRN RecQ like helicase gene DOID:5688 Werner syndrome ISO RGD:1318280 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:10069711|PMID:10189141|PMID:10220139|PMID:10347997|PMID:10543396|PMID:10628995|PMID:10811130|PMID:12244128|PMID:12827497|PMID:15355988|PMID:15489508|PMID:15609317|PMID:15888165|PMID:16199547|PMID:16673358|PMID:16786514|PMID:17478382|PMID:17576681|PMID:18205852|PMID:18414213|PMID:18810497|PMID:19763152|PMID:19824023|PMID:20157511|PMID:20301687|PMID:20307669|PMID:20443122|PMID:20657174|PMID:20802463|PMID:20855428|PMID:21389352|PMID:22188495|PMID:22406018|PMID:23045531|PMID:23583337|PMID:23849162|PMID:23936869|PMID:24033266|PMID:24429382|PMID:24728327|PMID:25018888|PMID:25059010|PMID:25182132|PMID:25390333|PMID:25619955|PMID:25637295|PMID:25741868|PMID:26296701|PMID:26344056|PMID:26546047|PMID:26689913|PMID:26695548|PMID:26901136|PMID:27084275|PMID:27153395|PMID:27559010|PMID:27667302|PMID:28202063|PMID:28276523|PMID:28492532|PMID:28795391|PMID:28861129|PMID:29753700|PMID:30140198|PMID:30891318|PMID:32041611|PMID:32359129|PMID:36292687|PMID:8037212|PMID:8602509|PMID:8968742|PMID:9012406|PMID:9048918|PMID:9225981|PMID:9241267|PMID:9450180|PMID:9536098 8962398 Wrn WRN RecQ like helicase gene DOID:5844 myocardial infarction ISO RGD:1318280 D RGD:9068941 20200609 RGD PMID:9021029|REF_RGD_ID:1580821 8962398 Wrn WRN RecQ like helicase gene DOID:630 genetic disease ISO RGD:1318280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532 8962398 Wrn WRN RecQ like helicase gene DOID:9002644 Premature Aging ISO RGD:1318280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21267443 8962398 Wrn WRN RecQ like helicase gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1318280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29616805 8962398 Wrn WRN RecQ like helicase gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1318280 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome PMID:10069711|PMID:10220139|PMID:16786514|PMID:18414213|PMID:19824023|PMID:24728327|PMID:25018888|PMID:25637295|PMID:25741868|PMID:28492532 8962398 Wrn WRN RecQ like helicase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:20443122|PMID:25741868|PMID:28492532 8962398 Wrn WRN RecQ like helicase gene DOID:9669 senile cataract no_association ISO RGD:1318280 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C1367R (rs1346044) (human) PMID:20808731|REF_RGD_ID:10042985 8962398 Wrn WRN RecQ like helicase gene DOID:9669 senile cataract susceptibility ISO RGD:1318280 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C1367R (rs1346044) (human) PMID:23334603|REF_RGD_ID:10042984 8962445 Ankrd27 ankyrin repeat domain 27 gene DOID:13922 eosinophilic esophagitis ISO RGD:1316102 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs3815700, rs10410895) (human) PMID:25407941|REF_RGD_ID:11100048 8962445 Ankrd27 ankyrin repeat domain 27 gene DOID:630 genetic disease ISO RGD:1316102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962485 Cntf ciliary neurotrophic factor gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:734034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11951178 8962485 Cntf ciliary neurotrophic factor gene DOID:10126 keratoconus ISO RGD:734034 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:corneal epithelium: PMID:23489213|REF_RGD_ID:8655632 8962485 Cntf ciliary neurotrophic factor gene DOID:10584 retinitis pigmentosa disease_progression ISO RGD:2370 D RGD:9068941 20210709 RGD associated with lens injury PMID:24558606|REF_RGD_ID:40818112 8962485 Cntf ciliary neurotrophic factor gene DOID:1059 intellectual disability ISO RGD:734034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8962485 Cntf ciliary neurotrophic factor gene DOID:12858 Huntington's disease ISO RGD:2370 D RGD:9068941 20200609 RGD PMID:12040055|REF_RGD_ID:628474 8962485 Cntf ciliary neurotrophic factor gene DOID:12858 Huntington's disease treatment ISO RGD:734034 D RGD:9068941 20200609 RGD human gene in a cynomolgus monkey model PMID:9121555|REF_RGD_ID:734795 8962485 Cntf ciliary neurotrophic factor gene DOID:150 disease of mental health ISO RGD:734034 D RGD:9068941 20200820 RGD PMID:8834105|REF_RGD_ID:1358522 8962485 Cntf ciliary neurotrophic factor gene DOID:1686 glaucoma ISO RGD:734034 D RGD:9068941 20200609 RGD PMID:19060281|REF_RGD_ID:8655853 8962485 Cntf ciliary neurotrophic factor gene DOID:1686 glaucoma ameliorates ISO RGD:2370 D RGD:9068941 20230415 RGD PMID:14725620|REF_RGD_ID:1626115 8962485 Cntf ciliary neurotrophic factor gene DOID:2377 multiple sclerosis onset ISO RGD:734034 D RGD:9068941 20200609 RGD DNA:point mutation:intron:G-to-A transition at -6 from the start of exon 2, leads to aberrant splicing, frameshift and a truncated protein PMID:11890844|REF_RGD_ID:1626112 8962485 Cntf ciliary neurotrophic factor gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:737002 D RGD:9068941 20200609 RGD PMID:11951178|REF_RGD_ID:734796 8962485 Cntf ciliary neurotrophic factor gene DOID:4195 hyperglycemia ISO RGD:2370 D RGD:9068941 20200609 RGD protein:decreased expression:sciatic nerve:resulting from galactose feeding or streptozotocin-induced diabetes PMID:1571789|REF_RGD_ID:1626119 8962485 Cntf ciliary neurotrophic factor gene DOID:630 genetic disease ISO RGD:734034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962485 Cntf ciliary neurotrophic factor gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2370 D RGD:9068941 20200609 RGD PMID:8125754|REF_RGD_ID:8655591 8962485 Cntf ciliary neurotrophic factor gene DOID:9002676 Cerebral Hemorrhage ISO RGD:734034 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11701153 8962485 Cntf ciliary neurotrophic factor gene DOID:9002955 Nerve Degeneration ISO RGD:734034 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15372491 8962485 Cntf ciliary neurotrophic factor gene DOID:9970 obesity ISO RGD:734034 D RGD:9068941 20200609 RGD DNA:point mutation:intron:G>A PMID:12404108|REF_RGD_ID:1626113 8962485 Cntf ciliary neurotrophic factor gene DOID:9970 obesity no_association ISO RGD:734034 D RGD:9068941 20200609 RGD DNA:point mutation:intron:G>A PMID:14747836|REF_RGD_ID:1626114 8962494 Eef1akmt2 EEF1A lysine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1604914 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962504 Tjp2 tight junction protein 2 gene DOID:0014667 disease of metabolism susceptibility ISO RGD:733146 D RGD:9068941 20200609 RGD DNA:transition: ; 143T>C; familial hypercholanemia, OMIM:607748 PMID:12704386|REF_RGD_ID:734629 8962504 Tjp2 tight junction protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733146 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8962504 Tjp2 tight junction protein 2 gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:733146 D RGD:7240710 20180130 OMIM 8962504 Tjp2 tight junction protein 2 gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:733146 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 PMID:24033266|PMID:24614073|PMID:25741868|PMID:25921221|PMID:28492532|PMID:30311386|PMID:32089630 8962504 Tjp2 tight junction protein 2 gene DOID:0110577 autosomal dominant nonsyndromic deafness 51 ISO RGD:733146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 51 PMID:20602916 8962504 Tjp2 tight junction protein 2 gene DOID:10763 hypertension ISO RGD:619807 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:17234953|REF_RGD_ID:1600163 8962504 Tjp2 tight junction protein 2 gene DOID:12236 primary biliary cholangitis ISO RGD:733146 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary biliary cholangitis PMID:25741868|PMID:28492532|PMID:32439973 8962504 Tjp2 tight junction protein 2 gene DOID:14702 branchiootorenal syndrome ISO RGD:733146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:25741868|PMID:30311386 8962504 Tjp2 tight junction protein 2 gene DOID:1852 intrahepatic cholestasis ISO RGD:733146 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614073 8962504 Tjp2 tight junction protein 2 gene DOID:630 genetic disease ISO RGD:733146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10601346|PMID:25741868|PMID:28492532 8962504 Tjp2 tight junction protein 2 gene DOID:9004538 Hearing Loss ISO RGD:733146 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:30311386 8962504 Tjp2 tight junction protein 2 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:733146 D RGD:7240710 20210414 OMIM 8962504 Tjp2 tight junction protein 2 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:733146 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 | ClinVar Annotator: match by term: TJP2-related condition PMID:12704386|PMID:23767834|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28924228|PMID:29238877|PMID:30311386|PMID:32439973 8962504 Tjp2 tight junction protein 2 gene DOID:9007118 Familial Hypercholanemia ISO RGD:733146 D RGD:9068941 20210430 CTD CTD Direct Evidence: marker/mechanism 8962504 Tjp2 tight junction protein 2 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:733146 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 8962552 Cfap36 cilia and flagella associated protein 36 gene DOID:630 genetic disease ISO RGD:1603927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962572 Snrpf small nuclear ribonucleoprotein polypeptide F gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313451 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased protein binding:multiple (human) PMID:23799036|REF_RGD_ID:10768838 8962572 Snrpf small nuclear ribonucleoprotein polypeptide F gene DOID:9261 nasopharynx carcinoma ISO RGD:1313451 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:24080422|REF_RGD_ID:10755709 8962580 Plk2 polo like kinase 2 gene DOID:10485 esophageal atresia ISO RGD:1348089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8962580 Plk2 polo like kinase 2 gene DOID:305 carcinoma ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8962580 Plk2 polo like kinase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8962580 Plk2 polo like kinase 2 gene DOID:630 genetic disease ISO RGD:1348089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962580 Plk2 polo like kinase 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8962580 Plk2 polo like kinase 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8962580 Plk2 polo like kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8962580 Plk2 polo like kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8962580 Plk2 polo like kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620760 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 8962580 Plk2 polo like kinase 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1348089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12897130 8962632 Mb myoglobin gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1354197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8962632 Mb myoglobin gene DOID:0080600 COVID-19 severity ISO RGD:1354197 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:32125452|REF_RGD_ID:27095965 8962632 Mb myoglobin gene DOID:0080600 COVID-19 severity ISO RGD:1354197 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 8962632 Mb myoglobin gene DOID:3021 acute kidney failure ISO RGD:1354197 D RGD:9068941 20200609 RGD protein: increased expression: serum PMID:23497406|REF_RGD_ID:7244253 8962632 Mb myoglobin gene DOID:3021 acute kidney failure ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:9822635|REF_RGD_ID:7244259 8962632 Mb myoglobin gene DOID:630 genetic disease ISO RGD:1354197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962632 Mb myoglobin gene DOID:9000528 Coronary Disease severity ISO RGD:1354197 D RGD:9068941 20200609 RGD PMID:15976963|REF_RGD_ID:1582388 8962632 Mb myoglobin gene DOID:9000921 Crush Syndrome ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:12558149|REF_RGD_ID:1582428 8962632 Mb myoglobin gene DOID:9002669 Hypoxia ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:12530625|REF_RGD_ID:1582429 8962632 Mb myoglobin gene DOID:9004009 Reperfusion Injury ISO RGD:1354197 D RGD:9068941 20200609 RGD PMID:12788661|REF_RGD_ID:1582427 8962632 Mb myoglobin gene DOID:9007102 Myocardial Ischemia ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:12935692|REF_RGD_ID:1582426 8962632 Mb myoglobin gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:1354197 D RGD:9068941 20200609 RGD PMID:15762290|REF_RGD_ID:1582393 8962632 Mb myoglobin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1552831 D RGD:9068941 20200609 RGD PMID:15132981|REF_RGD_ID:1582385 8962632 Mb myoglobin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620411 D RGD:9068941 20200609 RGD PMID:11972171|REF_RGD_ID:1582431 8962632 Mb myoglobin gene DOID:9007848 Sarcoplasmic Body Myopathy ISO RGD:1354197 D RGD:7240710 20230505 OMIM 8962632 Mb myoglobin gene DOID:9007848 Sarcoplasmic Body Myopathy ISO RGD:1354197 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, sarcoplasmic body PMID:25741868|PMID:30918256|PMID:34679218|PMID:35527200|PMID:6251174 8962639 Whrn whirlin gene DOID:0050439 Usher syndrome ISO RGD:1349509 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome PMID:11973626|PMID:12833159|PMID:15841483|PMID:21569298|PMID:22147658|PMID:24033266|PMID:25741868|PMID:28492532 8962639 Whrn whirlin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:30303587 8962639 Whrn whirlin gene DOID:0050630 Aland Island eye disease ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:28492532|PMID:30718709 8962639 Whrn whirlin gene DOID:0110490 autosomal recessive nonsyndromic deafness 31 ISO RGD:1349509 D RGD:7240710 20180130 OMIM 8962639 Whrn whirlin gene DOID:0110490 autosomal recessive nonsyndromic deafness 31 ISO RGD:1349509 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF PMID:11973626|PMID:12833159|PMID:15841483|PMID:17576681|PMID:20352026|PMID:21569298|PMID:21654738|PMID:22135276|PMID:22147658|PMID:23804846|PMID:24033266|PMID:25262649|PMID:25404053|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029|PMID:30311386|PMID:31541171|PMID:35114279|PMID:9536098 8962639 Whrn whirlin gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1349509 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:21569298|PMID:24033266|PMID:25741868|PMID:28492532 8962639 Whrn whirlin gene DOID:0110840 Usher syndrome type 2D ISO RGD:1349509 D RGD:7240710 20180130 OMIM 8962639 Whrn whirlin gene DOID:0110840 Usher syndrome type 2D ISO RGD:1349509 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D PMID:12833159|PMID:15841483|PMID:17171570|PMID:17576681|PMID:20352026|PMID:21569298|PMID:21654738|PMID:22135276|PMID:22147658|PMID:23804846|PMID:24033266|PMID:25262649|PMID:25404053|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029|PMID:30311386|PMID:35114279|PMID:9536098 8962639 Whrn whirlin gene DOID:10003 sensorineural hearing loss ISO RGD:1349509 D RGD:9068941 20200609 RGD PMID:12833159|REF_RGD_ID:1580603 8962639 Whrn whirlin gene DOID:10003 sensorineural hearing loss ISO RGD:1553310 D RGD:9068941 20200609 RGD PMID:12833159|REF_RGD_ID:1580603 8962639 Whrn whirlin gene DOID:630 genetic disease ISO RGD:1349509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8962639 Whrn whirlin gene DOID:8501 fundus dystrophy ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:27208204|PMID:28492532 8962639 Whrn whirlin gene DOID:9004538 Hearing Loss ISO RGD:1349509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:20352026|PMID:22135276|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 8962639 Whrn whirlin gene DOID:9008681 Deafness ISO RGD:1349509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 8962675 Gng11 G protein subunit gamma 11 gene DOID:3910 lung adenocarcinoma ISO RGD:735931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 8962675 Gng11 G protein subunit gamma 11 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8962675 Gng11 G protein subunit gamma 11 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8962681 Csnk1g3 casein kinase 1 gamma 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:731819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8962681 Csnk1g3 casein kinase 1 gamma 3 gene DOID:630 genetic disease ISO RGD:731819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962681 Csnk1g3 casein kinase 1 gamma 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8962681 Csnk1g3 casein kinase 1 gamma 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731819 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8962718 Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1313330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8962718 Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:10579 leukodystrophy ISO RGD:1313330 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy 8962718 Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1313330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962718 Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8962756 Hacd2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1314901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8962756 Hacd2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:630 genetic disease ISO RGD:1314901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962756 Hacd2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1314901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:21055718|PMID:28492532|PMID:28602422 8962756 Hacd2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1314901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8962756 Hacd2 3-hydroxyacyl-CoA dehydratase 2 gene DOID:9270 alkaptonuria ISO RGD:1314901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8962766 Plekhj1 pleckstrin homology domain containing J1 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1316273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8962766 Plekhj1 pleckstrin homology domain containing J1 gene DOID:630 genetic disease ISO RGD:1316273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962766 Plekhj1 pleckstrin homology domain containing J1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8962776 Srrm4 serine/arginine repetitive matrix 4 gene DOID:3426 vestibular disease ISO RGD:1603376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17613114 8962776 Srrm4 serine/arginine repetitive matrix 4 gene DOID:630 genetic disease ISO RGD:1603376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962776 Srrm4 serine/arginine repetitive matrix 4 gene DOID:9002500 Hearing Disorders ISO RGD:1603376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17613114 8962795 Trappc8 trafficking protein particle complex subunit 8 gene DOID:1059 intellectual disability ISO RGD:1319254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8962795 Trappc8 trafficking protein particle complex subunit 8 gene DOID:630 genetic disease ISO RGD:1319254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962839 Inka1 inka box actin regulator 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8962839 Inka1 inka box actin regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1602805 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8962839 Inka1 inka box actin regulator 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8962839 Inka1 inka box actin regulator 1 gene DOID:630 genetic disease ISO RGD:1602805 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962839 Inka1 inka box actin regulator 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8962845 Smcr8 SMCR8-C9orf72 complex subunit gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1345463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8962845 Smcr8 SMCR8-C9orf72 complex subunit gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1345463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8962845 Smcr8 SMCR8-C9orf72 complex subunit gene DOID:0110980 Joubert syndrome 1 ISO RGD:1345463 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8962845 Smcr8 SMCR8-C9orf72 complex subunit gene DOID:12849 autistic disorder ISO RGD:1345463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8962845 Smcr8 SMCR8-C9orf72 complex subunit gene DOID:630 genetic disease ISO RGD:1345463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962845 Smcr8 SMCR8-C9orf72 complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8962851 Dlx5 distal-less homeobox 5 gene DOID:0080006 bone development disease ISO RGD:733723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10433909 8962851 Dlx5 distal-less homeobox 5 gene DOID:0090020 split hand-foot malformation ISO RGD:733723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8962851 Dlx5 distal-less homeobox 5 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:733723 D RGD:7240710 20200520 OMIM 8962851 Dlx5 distal-less homeobox 5 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:733723 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 1 PMID:24496061|PMID:25196357|PMID:25741868 8962851 Dlx5 distal-less homeobox 5 gene DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss ISO RGD:733723 D RGD:7240710 20180130 OMIM 8962851 Dlx5 distal-less homeobox 5 gene DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss ISO RGD:733723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss PMID:22121204 8962851 Dlx5 distal-less homeobox 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8962851 Dlx5 distal-less homeobox 5 gene DOID:630 genetic disease ISO RGD:733723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8962851 Dlx5 distal-less homeobox 5 gene DOID:9003996 Birth Weight ISO RGD:733723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31082282 8962851 Dlx5 distal-less homeobox 5 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10433909|PMID:10433912|PMID:14666512 8962863 VDR vitamin D receptor gene DOID:4914 esophagus adenocarcinoma disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:amplication: : PMID:24951052|REF_RGD_ID:13432070 8962863 Vdr vitamin D receptor gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs731236,rs1544410(human) PMID:26073892|REF_RGD_ID:11053054 8962863 Vdr vitamin D receptor gene DOID:0060041 autism spectrum disorder susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes: :rs731236,,rs1544410,rs2228570(human) PMID:27155524|REF_RGD_ID:13210779 8962863 Vdr vitamin D receptor gene DOID:0060643 primary sclerosing cholangitis ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:28146070|REF_RGD_ID:14401745 8962863 Vdr vitamin D receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:11484 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hepatocyte: PMID:27245430|REF_RGD_ID:14401753 8962863 Vdr vitamin D receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hepatocyte: PMID:27245430|REF_RGD_ID:14401753 8962863 Vdr vitamin D receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:27245430|REF_RGD_ID:14401753 8962863 Vdr vitamin D receptor gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:619561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:17970811|PMID:25741868 8962863 Vdr vitamin D receptor gene DOID:0080750 erythema nodosum susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human) PMID:24880677|REF_RGD_ID:13217417 8962863 Vdr vitamin D receptor gene DOID:0080883 vitamin D-dependent rickets ISO RGD:619561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin D-dependent rickets PMID:25741868|PMID:28492532 8962863 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:619561 D RGD:7240710 20180130 OMIM 8962863 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A ISO RGD:619561 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:22145479|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098 8962863 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A treatment ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:24693968|REF_RGD_ID:13432060 8962863 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A treatment ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:24693968|REF_RGD_ID:13432060 8962863 Vdr vitamin D receptor gene DOID:0080884 vitamin D-dependent rickets type 2A treatment ISO XCO:0000545 D RGD:9068941 20210402 RGD PMID:32231239|REF_RGD_ID:32716373 8962863 Vdr vitamin D receptor gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:619561 D RGD:9068941 20200609 RGD protein:increased expression:muscle: PMID:27558075|REF_RGD_ID:13210781 8962863 Vdr vitamin D receptor gene DOID:10283 prostate cancer susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs11574143 (human) PMID:19255064|REF_RGD_ID:4889833 8962863 Vdr vitamin D receptor gene DOID:10591 pre-eclampsia ISO RGD:619561 D RGD:9068941 20231130 RGD associated with Premature Birth; mRNA:increased expression:placenta (human) PMID:32682061|REF_RGD_ID:401901078 8962863 Vdr vitamin D receptor gene DOID:10591 pre-eclampsia ISO RGD:619561 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8962863 Vdr vitamin D receptor gene DOID:10591 pre-eclampsia ISO RGD:619561 D RGD:9068941 20231130 RGD protein:decreased expression:placenta (human) PMID:22871339|REF_RGD_ID:401901075 8962863 Vdr vitamin D receptor gene DOID:10609 rickets ISO RGD:11484 D RGD:9068941 20220825 MouseDO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 8962863 Vdr vitamin D receptor gene DOID:10609 rickets ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1338926|PMID:17451081|PMID:22466564 8962863 Vdr vitamin D receptor gene DOID:10609 rickets ISO RGD:619561 D RGD:9068941 20200609 RGD VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human) PMID:2849209|REF_RGD_ID:1624354 8962863 Vdr vitamin D receptor gene DOID:10763 hypertension ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11335187 8962863 Vdr vitamin D receptor gene DOID:11202 primary hyperparathyroidism susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) PMID:9070272|REF_RGD_ID:13432057 8962863 Vdr vitamin D receptor gene DOID:11476 osteoporosis ISO RGD:11484 D RGD:9068941 20220825 MouseDO OMIM:166710 8962863 Vdr vitamin D receptor gene DOID:11476 osteoporosis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:16713399|REF_RGD_ID:4889871 8962863 Vdr vitamin D receptor gene DOID:11612 polycystic ovary syndrome susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype: :rs731236(human) PMID:24078159|REF_RGD_ID:13210783 8962863 Vdr vitamin D receptor gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human) PMID:24796371|REF_RGD_ID:13432055 8962863 Vdr vitamin D receptor gene DOID:11714 gestational diabetes ISO RGD:619561 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8962863 Vdr vitamin D receptor gene DOID:11830 myopia susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:c.2T>C (human) PMID:21897619|REF_RGD_ID:8157620 8962863 Vdr vitamin D receptor gene DOID:12185 otosclerosis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, silent mutation:intron, cds: (rs731236, rs1544410, rs7975232) (human) PMID:23639864|REF_RGD_ID:8157627 8962863 Vdr vitamin D receptor gene DOID:12185 otosclerosis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs2228570) (human) PMID:23639864|REF_RGD_ID:8157627 8962863 Vdr vitamin D receptor gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: : PMID:19376604|REF_RGD_ID:14401750 8962863 Vdr vitamin D receptor gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:15683428|REF_RGD_ID:14402024 8962863 Vdr vitamin D receptor gene DOID:12306 vitiligo ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:22738935|REF_RGD_ID:8158061 8962863 Vdr vitamin D receptor gene DOID:12306 vitiligo ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs1544410, rs7975232 (human) PMID:22762534|REF_RGD_ID:8158066 8962863 Vdr vitamin D receptor gene DOID:12306 vitiligo no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2228570 (human) PMID:22762534|REF_RGD_ID:8158066 8962863 Vdr vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2228570 (human) PMID:17506475|REF_RGD_ID:8157632 8962863 Vdr vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1544410, rs10735810 (human) PMID:16279845|REF_RGD_ID:8158053 8962863 Vdr vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1544410, rs7975232 (human) PMID:11134121|REF_RGD_ID:8157628 8962863 Vdr vitamin D receptor gene DOID:12361 Graves' disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype PMID:16100768|REF_RGD_ID:8157624 8962863 Vdr vitamin D receptor gene DOID:12361 Graves' disease no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:11134121|REF_RGD_ID:8157628 8962863 Vdr vitamin D receptor gene DOID:12361 Graves' disease no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs7975232 (human) PMID:16279845|REF_RGD_ID:8158053 8962863 Vdr vitamin D receptor gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:3959 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:8807569|REF_RGD_ID:8158085 8962863 Vdr vitamin D receptor gene DOID:13241 Behcet's disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2228570 (human) PMID:21820934|REF_RGD_ID:8158077 8962863 Vdr vitamin D receptor gene DOID:13241 Behcet's disease no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs1544410 (human) PMID:21820934|REF_RGD_ID:8158077 8962863 Vdr vitamin D receptor gene DOID:13976 peptic esophagitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) PMID:25910066|REF_RGD_ID:11055189 8962863 Vdr vitamin D receptor gene DOID:14330 Parkinson's disease onset ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms: :rs4334089, rs2853559(human) PMID:21309754|REF_RGD_ID:13217419 8962863 Vdr vitamin D receptor gene DOID:14499 Fabry disease susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: : PMID:18278558|REF_RGD_ID:13432071 8962863 Vdr vitamin D receptor gene DOID:14566 disease of cellular proliferation ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10389917 8962863 Vdr vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP, repeat: :rs1544410 (human) PMID:15328186|REF_RGD_ID:8158058 8962863 Vdr vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) PMID:23554871|REF_RGD_ID:8157626 8962863 Vdr vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:20431345|REF_RGD_ID:8157634 8962863 Vdr vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype: :multiple PMID:18419802|REF_RGD_ID:8157631 8962863 Vdr vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:repeat PMID:11461072|REF_RGD_ID:8158054 8962863 Vdr vitamin D receptor gene DOID:1612 breast cancer ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:19331145|REF_RGD_ID:8158065 8962863 Vdr vitamin D receptor gene DOID:1612 breast cancer disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:23554871|REF_RGD_ID:8157626 8962863 Vdr vitamin D receptor gene DOID:1612 breast cancer disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1544410 (human) PMID:19124512|REF_RGD_ID:8158060 8962863 Vdr vitamin D receptor gene DOID:1612 breast cancer no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:11461072|REF_RGD_ID:8158054 8962863 Vdr vitamin D receptor gene DOID:1612 breast cancer no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1989969, rs2228570, rs11568820 (human) PMID:23300018|REF_RGD_ID:8158069 8962863 Vdr vitamin D receptor gene DOID:1612 breast cancer no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs1544410 (human) PMID:14749534|REF_RGD_ID:8157636 8962863 Vdr vitamin D receptor gene DOID:1612 breast cancer onset ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:repeat, SNP, haplotype:rs7975232 (human) PMID:19588543|REF_RGD_ID:8158055 8962863 Vdr vitamin D receptor gene DOID:1614 male breast cancer no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs7975232), rs10735810 (human) PMID:22331715|REF_RGD_ID:8157630 8962863 Vdr vitamin D receptor gene DOID:1712 aortic valve stenosis ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:11359741|REF_RGD_ID:1580365 8962863 Vdr vitamin D receptor gene DOID:1749 squamous cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs1544410 (human) PMID:16950800|REF_RGD_ID:8158080 8962863 Vdr vitamin D receptor gene DOID:1749 squamous cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs731236, rs7975232 (human) PMID:22213323|REF_RGD_ID:8158063 8962863 Vdr vitamin D receptor gene DOID:1909 melanoma disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:exons: (rs731236, rs2228570) (human) PMID:10690530|REF_RGD_ID:8158068 8962863 Vdr vitamin D receptor gene DOID:1909 melanoma severity ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4516035 (human) PMID:19105801|REF_RGD_ID:8158067 8962863 Vdr vitamin D receptor gene DOID:1936 atherosclerosis ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:25801026|REF_RGD_ID:14402022 8962863 Vdr vitamin D receptor gene DOID:2043 hepatitis B disease_progression ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:19693091|REF_RGD_ID:14402030 8962863 Vdr vitamin D receptor gene DOID:2043 hepatitis B susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms, hapoltype: : PMID:16733893|REF_RGD_ID:14401748 8962863 Vdr vitamin D receptor gene DOID:2048 autoimmune hepatitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:15683428|REF_RGD_ID:14402024 8962863 Vdr vitamin D receptor gene DOID:2377 multiple sclerosis ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25853421 8962863 Vdr vitamin D receptor gene DOID:2377 multiple sclerosis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human) PMID:26540116|REF_RGD_ID:11353119 8962863 Vdr vitamin D receptor gene DOID:2377 multiple sclerosis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:27049563|REF_RGD_ID:11530654 8962863 Vdr vitamin D receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphisms: :rs731236,rs7975232(human) PMID:25685788|REF_RGD_ID:13210790 8962863 Vdr vitamin D receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:silent mutation, haplotype:cds: (rs731236) (human) PMID:21664963|REF_RGD_ID:5147559 8962863 Vdr vitamin D receptor gene DOID:2513 basal cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs731236, rs7975232 (human) PMID:22213323|REF_RGD_ID:8158063 8962863 Vdr vitamin D receptor gene DOID:2513 basal cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:15077124|REF_RGD_ID:8158076 8962863 Vdr vitamin D receptor gene DOID:2671 transitional cell carcinoma ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16080513 8962863 Vdr vitamin D receptor gene DOID:2841 asthma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:21103062|REF_RGD_ID:4889866 8962863 Vdr vitamin D receptor gene DOID:2841 asthma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs7975232 (human) PMID:19622139|REF_RGD_ID:4889868 8962863 Vdr vitamin D receptor gene DOID:2841 asthma ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:15282200|REF_RGD_ID:4889854 8962863 Vdr vitamin D receptor gene DOID:2841 asthma no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:20124605|REF_RGD_ID:4889867 8962863 Vdr vitamin D receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:15295697|REF_RGD_ID:4889853 8962863 Vdr vitamin D receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, 3' UTR (human) PMID:18231846|REF_RGD_ID:4889845 8962863 Vdr vitamin D receptor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:17236578|PMID:20231985|REF_RGD_ID:4889830|REF_RGD_ID:4889849 8962863 Vdr vitamin D receptor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:5' UTR (human) PMID:18397302|REF_RGD_ID:4889842 8962863 Vdr vitamin D receptor gene DOID:3310 atopic dermatitis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:23034014|REF_RGD_ID:8157625 8962863 Vdr vitamin D receptor gene DOID:3310 atopic dermatitis severity ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human) PMID:23034014|REF_RGD_ID:8157625 8962863 Vdr vitamin D receptor gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs7975232(human) PMID:26190642|REF_RGD_ID:11560790 8962863 Vdr vitamin D receptor gene DOID:3328 temporal lobe epilepsy ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18534255 8962863 Vdr vitamin D receptor gene DOID:3393 coronary artery disease severity ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:9761785|REF_RGD_ID:4889864 8962863 Vdr vitamin D receptor gene DOID:3491 Turner syndrome susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs7975232(human) PMID:21823528|REF_RGD_ID:13432073 8962863 Vdr vitamin D receptor gene DOID:399 tuberculosis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with HIV Infections;DNA:SNPs:3' UTR (human) PMID:18712587|REF_RGD_ID:4889839 8962863 Vdr vitamin D receptor gene DOID:4676 uremia ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 8962863 Vdr vitamin D receptor gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) PMID:25910066|REF_RGD_ID:11055189 8962863 Vdr vitamin D receptor gene DOID:5082 liver cirrhosis ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:23622244|REF_RGD_ID:14402027 8962863 Vdr vitamin D receptor gene DOID:5082 liver cirrhosis severity ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:30218108|REF_RGD_ID:14402031 8962863 Vdr vitamin D receptor gene DOID:5082 liver cirrhosis severity ISO RGD:619561 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease; DNA:SNP: :rs1544410(human) PMID:30683615|REF_RGD_ID:14401752 8962863 Vdr vitamin D receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:3' UTR (human) PMID:18712587|REF_RGD_ID:4889839 8962863 Vdr vitamin D receptor gene DOID:552 pneumonia ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:17224129|REF_RGD_ID:4889851 8962863 Vdr vitamin D receptor gene DOID:552 pneumonia susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2239185(human) PMID:25367052|REF_RGD_ID:11074745 8962863 Vdr vitamin D receptor gene DOID:630 genetic disease ISO RGD:619561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8962863 Vdr vitamin D receptor gene DOID:684 hepatocellular carcinoma ISO RGD:619561 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:24033266|PMID:25741868|PMID:28492532 8962863 Vdr vitamin D receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs2228570(human) PMID:25541958|REF_RGD_ID:14402025 8962863 Vdr vitamin D receptor gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with alcoholic liver cirrhosis;DNA:haplotype:: PMID:20572305|REF_RGD_ID:14402026 8962863 Vdr vitamin D receptor gene DOID:7148 rheumatoid arthritis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs2228570 (human) PMID:21820934|REF_RGD_ID:8158077 8962863 Vdr vitamin D receptor gene DOID:7148 rheumatoid arthritis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs1544410 (human) PMID:21820934|REF_RGD_ID:8158077 8962863 Vdr vitamin D receptor gene DOID:8466 retinal degeneration ISO RGD:3959 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:increased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8962863 Vdr vitamin D receptor gene DOID:8893 psoriasis ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:silent mutation:cds: (rs731236) (human) PMID:17763859|REF_RGD_ID:8157633 8962863 Vdr vitamin D receptor gene DOID:8893 psoriasis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:exon:multiple PMID:24320988|REF_RGD_ID:8157635 8962863 Vdr vitamin D receptor gene DOID:8893 psoriasis no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs:intron, cds: (rs731236, rs1544410, rs7975232) (human) PMID:21951018|REF_RGD_ID:8158062 8962863 Vdr vitamin D receptor gene DOID:8893 psoriasis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-1012A>G (rs4516035) (human) PMID:24320988|REF_RGD_ID:8157635 8962863 Vdr vitamin D receptor gene DOID:8893 psoriasis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron, cds, enhancer:multiple PMID:24055231|REF_RGD_ID:8158056 8962863 Vdr vitamin D receptor gene DOID:8893 psoriasis treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter, exon:-1012A>G, (rs731236, rs2228570) (human) PMID:15864137|REF_RGD_ID:8158072 8962863 Vdr vitamin D receptor gene DOID:8893 psoriasis treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:pI352 (rs731236) (human) PMID:20716226|REF_RGD_ID:8158081 8962863 Vdr vitamin D receptor gene DOID:8923 skin melanoma no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19615888|PMID:22576141|REF_RGD_ID:8158071|REF_RGD_ID:8158075 8962863 Vdr vitamin D receptor gene DOID:8923 skin melanoma susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human) PMID:16990805|REF_RGD_ID:8157629 8962863 Vdr vitamin D receptor gene DOID:8947 diabetic retinopathy ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:15899948|REF_RGD_ID:1580363 8962863 Vdr vitamin D receptor gene DOID:9000169 Systemic Inflammatory Response Syndrome susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with pneumonia; DNA:SNP: :rs2239185(human) PMID:25367052|REF_RGD_ID:11074745 8962863 Vdr vitamin D receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:619561 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:SNP:intron: (rs1544410) (human) PMID:9613456|REF_RGD_ID:8158057 8962863 Vdr vitamin D receptor gene DOID:9001004 Chronic Periodontitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs731236(human) PMID:14572874|REF_RGD_ID:14402032 8962863 Vdr vitamin D receptor gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:619561 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:22145479|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098 8962863 Vdr vitamin D receptor gene DOID:9001738 Hypercalciuria ISO RGD:3959 D RGD:9068941 20200609 RGD protein:increased expression:kidney, small intestine PMID:19929616|REF_RGD_ID:4889914 8962863 Vdr vitamin D receptor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12446453 8962863 Vdr vitamin D receptor gene DOID:9002231 Fetal Growth Retardation ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:placenta: PMID:25716068|REF_RGD_ID:11058690 8962863 Vdr vitamin D receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20347977 8962863 Vdr vitamin D receptor gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:mutations, haplotype:intron, exon: (human) PMID:12915669|REF_RGD_ID:10045836 8962863 Vdr vitamin D receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:21287548|REF_RGD_ID:13210791 8962863 Vdr vitamin D receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:21318047|REF_RGD_ID:8158064 8962863 Vdr vitamin D receptor gene DOID:9003386 Sunburn susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs2228570 (human) PMID:19105801|REF_RGD_ID:8158067 8962863 Vdr vitamin D receptor gene DOID:9004017 Chronic Hepatitis C no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:26725771|REF_RGD_ID:14401749 8962863 Vdr vitamin D receptor gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:27263300|REF_RGD_ID:14401746 8962863 Vdr vitamin D receptor gene DOID:9004331 Parathyroid Neoplasms susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) PMID:9070272|REF_RGD_ID:13432057 8962863 Vdr vitamin D receptor gene DOID:9004657 Weight Gain ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:30905785|REF_RGD_ID:14402029 8962863 Vdr vitamin D receptor gene DOID:9004657 Weight Gain ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:30905785|REF_RGD_ID:14402029 8962863 Vdr vitamin D receptor gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:3959 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:increased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8962863 Vdr vitamin D receptor gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:exon: (rs2228570) (human) PMID:16604479|REF_RGD_ID:8158082 8962863 Vdr vitamin D receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:15333467|REF_RGD_ID:8158073 8962863 Vdr vitamin D receptor gene DOID:9005372 Inflammation ISO RGD:619561 D RGD:9068941 20200609 RGD associated with Respiratory Syncytial Virus Infections PMID:20008294|REF_RGD_ID:4889832 8962863 Vdr vitamin D receptor gene DOID:9006359 Vitamin D Deficiency ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9525346 8962863 Vdr vitamin D receptor gene DOID:9006359 Vitamin D Deficiency susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human) PMID:30683615|REF_RGD_ID:14401752 8962863 Vdr vitamin D receptor gene DOID:9006741 Acute Hepatitis treatment ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:20523341|REF_RGD_ID:14401751 8962863 Vdr vitamin D receptor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18266602|REF_RGD_ID:4889843 8962863 Vdr vitamin D receptor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP: :rs10735810 (human) PMID:17703412|REF_RGD_ID:4889847 8962863 Vdr vitamin D receptor gene DOID:9006956 nephrotoxicity treatment ISO RGD:3959 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 8962863 Vdr vitamin D receptor gene DOID:9007505 Familial Hypophosphatemic Rickets ISO RGD:619561 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:22145479|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098 8962863 Vdr vitamin D receptor gene DOID:9007661 Dwarfism ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs11568820(human) PMID:24015038|REF_RGD_ID:13217415 8962863 Vdr vitamin D receptor gene DOID:9007661 Dwarfism treatment ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNP:promoter: rs11568820(human) PMID:26400282|REF_RGD_ID:11353416 8962863 Vdr vitamin D receptor gene DOID:9007692 Insulin Resistance ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:25801026|REF_RGD_ID:14402022 8962863 Vdr vitamin D receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:11484 D RGD:9068941 20200609 RGD mRNA,protein:increased expression, activity:heart: PMID:25365634|REF_RGD_ID:13432076 8962863 Vdr vitamin D receptor gene DOID:9008914 Lead Poisoning ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20692022|PMID:23433214 8962863 Vdr vitamin D receptor gene DOID:9008939 Breast Neoplasms ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16280049|PMID:22892281 8962863 Vdr vitamin D receptor gene DOID:9065 leishmaniasis ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:17551101|REF_RGD_ID:8158083 8962863 Vdr vitamin D receptor gene DOID:9206 Barrett's esophagus susceptibility ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human) PMID:25910066|REF_RGD_ID:11055189 8962863 Vdr vitamin D receptor gene DOID:9351 diabetes mellitus no_association ISO RGD:619561 D RGD:9068941 20200609 RGD DNA:SNPs: :rs731236, rs1544410, rs7975232 (human) PMID:22856230|REF_RGD_ID:8158070 8962863 Vdr vitamin D receptor gene DOID:9446 cholangitis ISO RGD:619561 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver PMID:28146070|REF_RGD_ID:14401745 8962863 Vdr vitamin D receptor gene DOID:9452 steatotic liver disease ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:30905785|REF_RGD_ID:14402029 8962863 Vdr vitamin D receptor gene DOID:9452 steatotic liver disease ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:30905785|REF_RGD_ID:14402029 8962863 Vdr vitamin D receptor gene DOID:987 alopecia ISO RGD:11484 D RGD:9068941 20200609 RGD PMID:11713240|REF_RGD_ID:8157637 8962863 Vdr vitamin D receptor gene DOID:987 alopecia ISO RGD:619561 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1338926|PMID:22466564 8962863 Vdr vitamin D receptor gene DOID:987 alopecia ISO RGD:619561 D RGD:9068941 20200609 RGD PMID:11713240|REF_RGD_ID:8157637 8962888 Gdf15 growth differentiation factor 15 gene DOID:1909 melanoma ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 8962888 Gdf15 growth differentiation factor 15 gene DOID:2355 anemia treatment ISO RGD:1344001 D RGD:9068941 20200609 RGD associated with Multiple Myeloma PMID:25052873|REF_RGD_ID:11041612 8962888 Gdf15 growth differentiation factor 15 gene DOID:3393 coronary artery disease ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20855664 8962888 Gdf15 growth differentiation factor 15 gene DOID:403 mouth disease ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 8962888 Gdf15 growth differentiation factor 15 gene DOID:6000 congestive heart failure ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20855664 8962888 Gdf15 growth differentiation factor 15 gene DOID:630 genetic disease ISO RGD:1344001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962888 Gdf15 growth differentiation factor 15 gene DOID:684 hepatocellular carcinoma ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20512989 8962888 Gdf15 growth differentiation factor 15 gene DOID:8955 sideroblastic anemia ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19036111 8962888 Gdf15 growth differentiation factor 15 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23996089 8962888 Gdf15 growth differentiation factor 15 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16775185|PMID:23996089 8962888 Gdf15 growth differentiation factor 15 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19505289 8962888 Gdf15 growth differentiation factor 15 gene DOID:9004657 Weight Gain ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8962888 Gdf15 growth differentiation factor 15 gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24440808 8962888 Gdf15 growth differentiation factor 15 gene DOID:9007102 Myocardial Ischemia ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8962888 Gdf15 growth differentiation factor 15 gene DOID:9007105 Hyperemesis Gravidarum susceptibility ISO RGD:1344001 D RGD:7240710 20240320 OMIM 8962888 Gdf15 growth differentiation factor 15 gene DOID:9007346 Cachexia ISO RGD:1344001 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30782979 8962888 Gdf15 growth differentiation factor 15 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1344001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8962894 Uggt2 UDP-glucose glycoprotein glucosyltransferase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1351683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8962894 Uggt2 UDP-glucose glycoprotein glucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1351683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962894 Uggt2 UDP-glucose glycoprotein glucosyltransferase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1351683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1318801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1318801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of PMID:12837689 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:0110128 Bardet-Biedl syndrome 6 ISO RGD:1318801 D RGD:7240710 20180130 OMIM 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:0110128 Bardet-Biedl syndrome 6 ISO RGD:1318801 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 PMID:10802661|PMID:10973238|PMID:10973251|PMID:11179009|PMID:11567139|PMID:12107442|PMID:12920096|PMID:15637713|PMID:15731008|PMID:15770229|PMID:16104012|PMID:17576681|PMID:18094050|PMID:20080638|PMID:20142850|PMID:20177705|PMID:20226561|PMID:20472660|PMID:20498079|PMID:20502701|PMID:21157496|PMID:21209035|PMID:22446187|PMID:22500027|PMID:24400638|PMID:25741868|PMID:25982971|PMID:26900326|PMID:27491411|PMID:28492532|PMID:28753627|PMID:28761321|PMID:29127258|PMID:30586318|PMID:30614526|PMID:30718709|PMID:33138063|PMID:33520300|PMID:9536098 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1318801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:0111255 McKusick-Kaufman syndrome ISO RGD:1318801 D RGD:7240710 20180130 OMIM 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:0111255 McKusick-Kaufman syndrome ISO RGD:1318801 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation | ClinVar Annotator: match by term: MKKS-related condition | ClinVar Annotator: match by term: McKusick-Kaufman syndrome PMID:10802661|PMID:10973251|PMID:11179009|PMID:11567139|PMID:12107442|PMID:12920096|PMID:15483080|PMID:15637713|PMID:15666242|PMID:15770229|PMID:16104012|PMID:17576681|PMID:18094050|PMID:20080638|PMID:20142850|PMID:20177705|PMID:20226561|PMID:20472660|PMID:20498079|PMID:21157496|PMID:21209035|PMID:22446187|PMID:22500027|PMID:22773737|PMID:24400638|PMID:25741868|PMID:25982971|PMID:26900326|PMID:27491411|PMID:28492532|PMID:28753627|PMID:28761321|PMID:29127258|PMID:29588463|PMID:30504698|PMID:30586318|PMID:30614526|PMID:30718709|PMID:31028937|PMID:33138063|PMID:33520300|PMID:35835773|PMID:9536098 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:12712 nephronophthisis ISO RGD:1318801 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10802661|PMID:10973251|PMID:11567139|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:25741868|PMID:25982971|PMID:28492532 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:1682 congenital heart disease ISO RGD:1318801 D RGD:9068941 20200609 RGD PMID:12107442|REF_RGD_ID:1582516 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318801 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:10802661|PMID:10973238|PMID:10973251|PMID:11179009|PMID:11567139|PMID:12107442|PMID:12920096|PMID:15483080|PMID:15637713|PMID:15666242|PMID:15731008|PMID:15770229|PMID:16104012|PMID:17576681|PMID:18094050|PMID:20080638|PMID:20142850|PMID:20177705|PMID:20226561|PMID:20472660|PMID:20498079|PMID:20502701|PMID:21157496|PMID:21209035|PMID:22353939|PMID:22446187|PMID:22500027|PMID:24400638|PMID:25741868|PMID:25982971|PMID:26355662|PMID:26900326|PMID:27491411|PMID:28492532|PMID:28624958|PMID:28753627|PMID:28761321|PMID:2896767|PMID:29127258|PMID:29588463|PMID:30504698|PMID:30586318|PMID:30614526|PMID:30718709|PMID:31028937|PMID:31054281|PMID:33138063|PMID:33520300|PMID:35835773|PMID:9536098 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:630 genetic disease ISO RGD:1318801 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10802661|PMID:10973251|PMID:11179009|PMID:11567139|PMID:15637713|PMID:15666242|PMID:17576681|PMID:18094050|PMID:20080638|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21157496|PMID:21209035|PMID:22446187|PMID:25741868|PMID:25982971|PMID:28492532|PMID:28761321|PMID:30586318|PMID:30614526|PMID:9536098 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:8501 fundus dystrophy ISO RGD:1318801 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10802661|PMID:10973251|PMID:11567139|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:25741868|PMID:25982971|PMID:28492532 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:9000726 Bardet-Biedl Syndrome 2/6, Digenic ISO RGD:1318801 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic PMID:10802661|PMID:10973251|PMID:11567139|PMID:18094050|PMID:20177705|PMID:20226561|PMID:20498079|PMID:21209035|PMID:22446187|PMID:25741868|PMID:25982971|PMID:28492532 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:9003698 ALAGILLE SYNDROME 1 ISO RGD:1318801 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532|PMID:32733715 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:9970 obesity ISO RGD:1318801 D RGD:9068941 20200609 RGD PMID:10973251|REF_RGD_ID:1581208 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:9970 obesity ISO RGD:1318801 D RGD:9068941 20200609 RGD protein:substitution:A242S possible contribution PMID:15483080|REF_RGD_ID:1601414 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:9970 obesity ISO RGD:1318802 D RGD:9068941 20220825 MouseDO OMIM:601665 8962943 Mkks MKKS centrosomal shuttling protein gene DOID:9970 obesity no_association ISO RGD:1318801 D RGD:9068941 20200609 RGD unlikely to play a major role in the pathogenesis of nonsyndromic obesity PMID:15483080|REF_RGD_ID:1601414 8962958 Ak1 adenylate kinase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8962958 Ak1 adenylate kinase 1 gene DOID:0050746 mantle cell lymphoma ISO RGD:736701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23676220 8962958 Ak1 adenylate kinase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8962958 Ak1 adenylate kinase 1 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:736701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8962958 Ak1 adenylate kinase 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:736701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8962958 Ak1 adenylate kinase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8962958 Ak1 adenylate kinase 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:736701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 8962958 Ak1 adenylate kinase 1 gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736701 D RGD:9068941 20200609 RGD DNA:missense, deletion mutations:cds: PMID:17662886|REF_RGD_ID:11100022 8962958 Ak1 adenylate kinase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2076 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (rat) PMID:16468349|REF_RGD_ID:5508760 8962958 Ak1 adenylate kinase 1 gene DOID:583 hemolytic anemia ISO RGD:736701 D RGD:9068941 20200609 RGD PMID:10233365|REF_RGD_ID:1300279 8962958 Ak1 adenylate kinase 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2076 D RGD:9068941 20200609 RGD PMID:22229508|REF_RGD_ID:11100025 8962958 Ak1 adenylate kinase 1 gene DOID:630 genetic disease ISO RGD:736701 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8962958 Ak1 adenylate kinase 1 gene DOID:9005319 Hemolytic Anemia due to Adenylate Kinase Deficiency ISO RGD:736701 D RGD:7240710 20180130 OMIM 8962958 Ak1 adenylate kinase 1 gene DOID:9005319 Hemolytic Anemia due to Adenylate Kinase Deficiency ISO RGD:736701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia due to adenylate kinase deficiency PMID:10233365|PMID:12649162|PMID:15315793|PMID:24033266|PMID:2542324|PMID:25741868|PMID:28492532|PMID:9432020 8962958 Ak1 adenylate kinase 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:736701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8962958 Ak1 adenylate kinase 1 gene DOID:9008824 Sarcopenia ISO RGD:2076 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius muscle (rat) PMID:17611631|REF_RGD_ID:5147990 8962958 Ak1 adenylate kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2076 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius muscle (rat) PMID:20127051|REF_RGD_ID:5134362 8962958 Ak1 adenylate kinase 1 gene DOID:9970 obesity ISO RGD:736701 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:15855311|REF_RGD_ID:1601154 8962972 P2ry8 P2Y receptor family member 8 gene DOID:12849 autistic disorder ISO RGD:1350225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8962972 P2ry8 P2Y receptor family member 8 gene DOID:13938 amenorrhea ISO RGD:1350225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8962972 P2ry8 P2Y receptor family member 8 gene DOID:9538 multiple myeloma ISO RGD:1350225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8962972 P2ry8 P2Y receptor family member 8 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1350225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838194 8962976 Utp3 UTP3 small subunit processome component gene DOID:630 genetic disease ISO RGD:1603977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0050700 cardiomyopathy ISO RGD:734286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868|PMID:28492532|PMID:9570948 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532|PMID:9570948 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0112092 nuclear type mitochondrial complex I deficiency 7 ISO RGD:734286 D RGD:7240710 20190315 OMIM 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:0112092 nuclear type mitochondrial complex I deficiency 7 ISO RGD:734286 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 PMID:25741868|PMID:26008862|PMID:28492532|PMID:30369941|PMID:9570948 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:1059 intellectual disability ISO RGD:734286 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:734286 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A29V PMID:9570948|REF_RGD_ID:2302386 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:3312 bipolar disorder ISO RGD:734286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19135101 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:5419 schizophrenia ISO RGD:734286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19135101 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:543 dystonia ISO RGD:734286 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:630 genetic disease ISO RGD:734286 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:734286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 8962982 Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 gene DOID:9002877 Parkinson's Disease, Mitochondrial ISO RGD:734286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, mitochondrial PMID:25741868|PMID:28492532|PMID:9570948 8962995 Syngr2 synaptogyrin 2 gene DOID:630 genetic disease ISO RGD:732040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963002 Inhbe inhibin subunit beta E gene DOID:630 genetic disease ISO RGD:737308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963002 Inhbe inhibin subunit beta E gene DOID:6846 familial melanoma ISO RGD:737308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8963002 Inhbe inhibin subunit beta E gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 8963002 Inhbe inhibin subunit beta E gene DOID:9455 lipid storage disease ISO RGD:737308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17175557 8963008 Mettl25 methyltransferase like 25 gene DOID:630 genetic disease ISO RGD:1602087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963047 Hace1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 8963047 Hace1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8963047 Hace1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:769 neuroblastoma ISO RGD:1314539 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941191 8963047 Hace1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9005075 Spastic Paraplegia and Psychomotor Retardation with or without Seizures ISO RGD:1314539 D RGD:7240710 20190315 OMIM 8963047 Hace1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9005075 Spastic Paraplegia and Psychomotor Retardation with or without Seizures ISO RGD:1314539 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia and psychomotor retardation with or without seizures PMID:25741868|PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 8963047 Hace1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 8963047 Hace1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1314539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362 8963075 Ccdc148 coiled-coil domain containing 148 gene DOID:13938 amenorrhea ISO RGD:1604533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8963075 Ccdc148 coiled-coil domain containing 148 gene DOID:630 genetic disease ISO RGD:1604533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963093 Itprid2 ITPR interacting domain containing 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1321861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28041643 8963093 Itprid2 ITPR interacting domain containing 2 gene DOID:630 genetic disease ISO RGD:1321861 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963134 Hnrnpd heterogeneous nuclear ribonucleoprotein D gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:733451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8963134 Hnrnpd heterogeneous nuclear ribonucleoprotein D gene DOID:4676 uremia treatment ISO RGD:620365 D RGD:9068941 20200609 RGD PMID:16291838|REF_RGD_ID:10042968 8963134 Hnrnpd heterogeneous nuclear ribonucleoprotein D gene DOID:630 genetic disease ISO RGD:733451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963134 Hnrnpd heterogeneous nuclear ribonucleoprotein D gene DOID:684 hepatocellular carcinoma ISO RGD:620365 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:22318685|REF_RGD_ID:10042977 8963134 Hnrnpd heterogeneous nuclear ribonucleoprotein D gene DOID:684 hepatocellular carcinoma ISO RGD:733451 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:20102719|REF_RGD_ID:10042969 8963159 Srp9 signal recognition particle 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1348001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8963159 Srp9 signal recognition particle 9 gene DOID:630 genetic disease ISO RGD:1348001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963159 Srp9 signal recognition particle 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8963168 Znf568 zinc finger protein 568 gene DOID:630 genetic disease ISO RGD:1342686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963181 Sirt2 sirtuin 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:621481 D RGD:9068941 20200609 RGD associated with Obesity PMID:22327056|REF_RGD_ID:9586049 8963181 Sirt2 sirtuin 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733995 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8963181 Sirt2 sirtuin 2 gene DOID:3070 high grade glioma treatment ISO RGD:621481 D RGD:9068941 20200609 RGD PMID:23522375|REF_RGD_ID:9586035 8963181 Sirt2 sirtuin 2 gene DOID:3669 intermittent claudication ISO RGD:621481 D RGD:9068941 20200609 RGD associated with Spinal Stenosis;protein:decreased expression:dorsal horn of spinal cord, ventral horn of spinal cord PMID:23658678|REF_RGD_ID:9586024 8963181 Sirt2 sirtuin 2 gene DOID:630 genetic disease ISO RGD:733995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963181 Sirt2 sirtuin 2 gene DOID:9004610 Acute Lung Injury ISO RGD:733995 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:32063085 8963181 Sirt2 sirtuin 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733995 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8963181 Sirt2 sirtuin 2 gene DOID:9975 cocaine dependence treatment ISO RGD:621481 D RGD:9068941 20231130 RGD PMID:27664298|REF_RGD_ID:401900166 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B ISO RGD:732599 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:25741868|PMID:28492532 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732599 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:732599 D RGD:7240710 20180214 OMIM 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:10195214|PMID:12588888|PMID:15079006|PMID:18806275|PMID:25741868|PMID:28492532|PMID:7254233 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:732599 D RGD:7240710 20180130 OMIM 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:732599 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CHRNA1-Related Congenital Myasthenic Syndrome | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A PMID:16685696|PMID:22406191|PMID:22678886|PMID:25741868|PMID:28492532|PMID:29054425|PMID:3651795|PMID:6287911|PMID:7619526|PMID:7863154|PMID:8872460|PMID:9158151|PMID:9221765 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:12849 autistic disorder ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism PMID:24121633|PMID:25741868|PMID:26467025|PMID:27748205|PMID:28492532 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:1826 epilepsy ISO RGD:732599 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:24033266|PMID:25450229|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33216040|PMID:9221765 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy PMID:25741868|PMID:28492532 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:630 genetic disease ISO RGD:732599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:9221765 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9000784 Fibrosis ISO RGD:732599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19690163 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9004016 Wiskott-Aldrich Syndrome 2 ISO RGD:732599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 PMID:28492532 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005883 Pleural Effusion ISO RGD:732599 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pleural effusion PMID:25741868|PMID:28492532|PMID:30177536|PMID:31680349|PMID:36634413 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732599 D RGD:7240710 20180130 OMIM 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9005962 Multiple Pterygium Syndrome, Lethal Type ISO RGD:732599 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:10195214|PMID:14719537|PMID:15907919|PMID:16199547|PMID:17576681|PMID:18252226|PMID:18806275|PMID:22406191|PMID:22728938|PMID:23037934|PMID:24121633|PMID:25348405|PMID:25450229|PMID:25741868|PMID:25741885|PMID:26467025|PMID:27748205|PMID:28492532|PMID:29054425|PMID:29395675|PMID:30177536|PMID:31680349|PMID:33216040|PMID:36634413|PMID:6287911|PMID:7619526|PMID:7863154|PMID:8872460|PMID:9158151|PMID:9221765|PMID:9536098 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:732599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:732599 D RGD:9068941 20200609 RGD PMID:10606626|REF_RGD_ID:704386 8963225 Chrna1 cholinergic receptor nicotinic alpha 1 subunit gene DOID:9008386 Hydrops Fetalis ISO RGD:732599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 8963249 Fuca2 alpha-L-fucosidase 2 gene DOID:0080600 COVID-19 ISO RGD:1344103 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8963249 Fuca2 alpha-L-fucosidase 2 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1344103 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 8963249 Fuca2 alpha-L-fucosidase 2 gene DOID:630 genetic disease ISO RGD:1344103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963249 Fuca2 alpha-L-fucosidase 2 gene DOID:9002189 High Myopia ISO RGD:1344103 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0060041 autism spectrum disorder ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0110994 Joubert syndrome 25 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111292 idiopathic generalized epilepsy 10 ISO RGD:733681 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 10 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 10 | ClinVar Annotator: match by term: GABRD-related condition PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:23216579|PMID:25194483|PMID:25741868|PMID:26467025|PMID:28383543|PMID:28492532|PMID:34633442 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111292 idiopathic generalized epilepsy 10 susceptibility ISO RGD:733681 D RGD:7240710 20240124 OMIM 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111934 immunodeficiency 38 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:0111935 immunodeficiency 16 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:1059 intellectual disability ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:1826 epilepsy ISO RGD:733681 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:17576681|PMID:20352446|PMID:23216579|PMID:24249596|PMID:25741868|PMID:26467025|PMID:28383543|PMID:28492532|PMID:9536098 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:5419 schizophrenia ISO RGD:733681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:630 genetic disease ISO RGD:733681 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:684 hepatocellular carcinoma ISO RGD:733681 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9001793 Generalized Epilepsy ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:28492532 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9006930 Generalized Epilepsy with Febrile Seizures Plus, Type 5 ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5 PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:23216579|PMID:26467025|PMID:28383543|PMID:28492532 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:733681 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:733681 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8963260 Gabrd gamma-aminobutyric acid type A receptor subunit delta gene DOID:9478 postpartum depression ISO RGD:62194 D RGD:9068941 20220825 MouseDO 8963272 Dpep1 dipeptidase 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1350537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 8963272 Dpep1 dipeptidase 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1350537 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8963272 Dpep1 dipeptidase 1 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1350537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 8963272 Dpep1 dipeptidase 1 gene DOID:13636 Fanconi anemia ISO RGD:1350537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8963272 Dpep1 dipeptidase 1 gene DOID:14780 KBG syndrome ISO RGD:1350537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 8963272 Dpep1 dipeptidase 1 gene DOID:630 genetic disease ISO RGD:1350537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963272 Dpep1 dipeptidase 1 gene DOID:687 hepatoblastoma ameliorates ISO RGD:1350537 D RGD:9068941 20220825 RGD human cells in mouse model PMID:31541079|REF_RGD_ID:153344539 8963272 Dpep1 dipeptidase 1 gene DOID:8398 osteoarthritis ISO RGD:1350537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 8963272 Dpep1 dipeptidase 1 gene DOID:8577 ulcerative colitis ISO RGD:1350537 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 8963272 Dpep1 dipeptidase 1 gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1350537 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 8963310 Dars1 aspartyl-tRNA synthetase 1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:732389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 8963310 Dars1 aspartyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:732389 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8963310 Dars1 aspartyl-tRNA synthetase 1 gene DOID:9006484 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity ISO RGD:732389 D RGD:7240710 20180130 OMIM 8963310 Dars1 aspartyl-tRNA synthetase 1 gene DOID:9006484 Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity ISO RGD:732389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ASPARTYL-tRNA SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity PMID:23643384|PMID:25527264|PMID:25741868|PMID:28492532 8963342 Atp11a ATPase phospholipid transporting 11A gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1318606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583980 8963342 Atp11a ATPase phospholipid transporting 11A gene DOID:0070406 hypomyelinating leukodystrophy 24 ISO RGD:1318606 D RGD:7240710 20220427 OMIM 8963342 Atp11a ATPase phospholipid transporting 11A gene DOID:0070406 hypomyelinating leukodystrophy 24 ISO RGD:1318606 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 24 PMID:34403372 8963342 Atp11a ATPase phospholipid transporting 11A gene DOID:0080600 COVID-19 ISO RGD:1318606 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 8963342 Atp11a ATPase phospholipid transporting 11A gene DOID:0110562 autosomal dominant nonsyndromic deafness 33 ISO RGD:1318606 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 33 PMID:25741868|PMID:30311386|PMID:35278131 8963342 Atp11a ATPase phospholipid transporting 11A gene DOID:2222 factor X deficiency ISO RGD:1318606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8963342 Atp11a ATPase phospholipid transporting 11A gene DOID:630 genetic disease ISO RGD:1318606 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8963342 Atp11a ATPase phospholipid transporting 11A gene DOID:9000796 Autosomal Dominant Nonsyndromic Deafness 84 ISO RGD:1318606 D RGD:7240710 20220615 OMIM 8963342 Atp11a ATPase phospholipid transporting 11A gene DOID:9000796 Autosomal Dominant Nonsyndromic Deafness 84 ISO RGD:1318606 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 PMID:25741868|PMID:30311386|PMID:35278131 8963342 Atp11a ATPase phospholipid transporting 11A gene DOID:9004053 Autosomal Dominant Auditory Neuropathy 2 ISO RGD:1318606 D RGD:7240710 20230531 OMIM 8963385 Btn1a1 butyrophilin subfamily 1 member A1 gene DOID:630 genetic disease ISO RGD:1315909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963406 Rnf212 ring finger protein 212 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 8963406 Rnf212 ring finger protein 212 gene DOID:0112351 spermatogenic failure 62 ISO RGD:1604957 D RGD:7240710 20211222 OMIM 8963406 Rnf212 ring finger protein 212 gene DOID:0112351 spermatogenic failure 62 ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 62 PMID:31125047 8963406 Rnf212 ring finger protein 212 gene DOID:14250 Down syndrome ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome 8963406 Rnf212 ring finger protein 212 gene DOID:1856 cherubism ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8963406 Rnf212 ring finger protein 212 gene DOID:3007 breast ductal carcinoma ISO RGD:1604957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8963406 Rnf212 ring finger protein 212 gene DOID:630 genetic disease ISO RGD:1604957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963439 Sema4b semaphorin 4B gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1317317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8963439 Sema4b semaphorin 4B gene DOID:2717 Bloom syndrome ISO RGD:1317317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8963439 Sema4b semaphorin 4B gene DOID:630 genetic disease ISO RGD:1317317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963439 Sema4b semaphorin 4B gene DOID:9256 colorectal cancer ISO RGD:1317317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8963459 Golga7 golgin A7 gene DOID:630 genetic disease ISO RGD:1351077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963469 CUNH16orf87 chromosome unknown C16orf87 homolog gene DOID:0111041 glycogen storage disease IXB ISO RGD:1604693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 8963481 L3mbtl3 L3MBTL histone methyl-lysine binding protein 3 gene DOID:0050902 medulloblastoma ISO RGD:1313522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 8963481 L3mbtl3 L3MBTL histone methyl-lysine binding protein 3 gene DOID:630 genetic disease ISO RGD:1313522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963481 L3mbtl3 L3MBTL histone methyl-lysine binding protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1313522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8963506 CUNH1orf54 chromosome unknown C1orf54 homolog gene DOID:0111940 immunodeficiency 42 ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8963506 CUNH1orf54 chromosome unknown C1orf54 homolog gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8963506 CUNH1orf54 chromosome unknown C1orf54 homolog gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8963506 CUNH1orf54 chromosome unknown C1orf54 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8963506 CUNH1orf54 chromosome unknown C1orf54 homolog gene DOID:5812 MHC class II deficiency ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8963506 CUNH1orf54 chromosome unknown C1orf54 homolog gene DOID:630 genetic disease ISO RGD:1606237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963506 CUNH1orf54 chromosome unknown C1orf54 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:735608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:731513 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus PMID:24315369|REF_RGD_ID:10395344 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17406652 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:735608 D RGD:9068941 20200609 RGD PMID:16691116|REF_RGD_ID:10395316 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:10652 Alzheimer's disease severity ISO RGD:735608 D RGD:9068941 20200609 RGD PMID:16954686|REF_RGD_ID:10395343 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:1561 cognitive disorder ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17406652 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:1824 status epilepticus ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15003282 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:224 transient cerebral ischemia ISO RGD:620963 D RGD:9068941 20200609 RGD associated with Heart Arrest PMID:10541873|REF_RGD_ID:11041881 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:224 transient cerebral ischemia ISO RGD:731513 D RGD:9068941 20200609 RGD PMID:11520898|REF_RGD_ID:10395353 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:3347 osteosarcoma ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:19763736|PMID:23669639|REF_RGD_ID:10395346|REF_RGD_ID:10755569 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:630 genetic disease ISO RGD:735608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9000998 Brain Injuries ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:11526986|REF_RGD_ID:10395358 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:21059295|REF_RGD_ID:10395351 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9002955 Nerve Degeneration ISO RGD:735608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16492139 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:8092984|REF_RGD_ID:10395352 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9004009 Reperfusion Injury ISO RGD:620963 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:15936177|REF_RGD_ID:1581062 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9004484 Sepsis ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:8141277|REF_RGD_ID:10395355 8963522 Eif2s1 eukaryotic translation initiation factor 2 subunit alpha gene DOID:9008824 Sarcopenia ISO RGD:620963 D RGD:9068941 20200609 RGD PMID:15187001|REF_RGD_ID:10395315 8963540 Mink1 misshapen like kinase 1 gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:1604362 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A PMID:10496269|PMID:10514102|PMID:10534268|PMID:15322984|PMID:15367858|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28492532|PMID:9097970|PMID:9668239 8963540 Mink1 misshapen like kinase 1 gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:1604362 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B PMID:10496269|PMID:10514102|PMID:10534268|PMID:15322984|PMID:15367858|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28492532|PMID:9097970|PMID:9668239 8963540 Mink1 misshapen like kinase 1 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1604362 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:10496269|PMID:10514102|PMID:10534268|PMID:15322984|PMID:15367858|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28492532|PMID:9097970|PMID:9668239 8963540 Mink1 misshapen like kinase 1 gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:1604362 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:10496269|PMID:10514102|PMID:10534268|PMID:15322984|PMID:15367858|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28492532|PMID:9097970|PMID:9668239 8963540 Mink1 misshapen like kinase 1 gene DOID:12849 autistic disorder ISO RGD:1604362 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8963540 Mink1 misshapen like kinase 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604362 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:10496269|PMID:10514102|PMID:10534268|PMID:15322984|PMID:15367858|PMID:17363247|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28492532|PMID:9097970|PMID:9668239 8963540 Mink1 misshapen like kinase 1 gene DOID:630 genetic disease ISO RGD:1604362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963594 Nme3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:733554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 8963594 Nme3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:733554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8963594 Nme3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:1826 epilepsy ISO RGD:733554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8963594 Nme3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:733554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8963594 Nme3 NME/NM23 nucleoside diphosphate kinase 3 gene DOID:630 genetic disease ISO RGD:733554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8963609 B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:12361 Graves' disease ISO RGD:1320774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 8963609 B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:5419 schizophrenia ISO RGD:1320774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8963609 B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:630 genetic disease ISO RGD:1320774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963609 B3gnt2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1320774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22446963 8963615 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:1909 melanoma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 8963615 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:6039 uveal melanoma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 8963615 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:630 genetic disease ISO RGD:1313400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963615 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 8963615 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 8963615 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9003566 Mesothelioma ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 8963615 Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase gene DOID:9008939 Breast Neoplasms ISO RGD:1313400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30619488 8963666 Ct83 cancer/testis antigen 83 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8963666 Ct83 cancer/testis antigen 83 gene DOID:12849 autistic disorder ISO RGD:1605263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8963666 Ct83 cancer/testis antigen 83 gene DOID:630 genetic disease ISO RGD:1605263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963672 Rnft2 ring finger protein, transmembrane 2 gene DOID:630 genetic disease ISO RGD:1605925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963711 Mxd3 MAX dimerization protein 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:734323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8963711 Mxd3 MAX dimerization protein 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:734323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8963711 Mxd3 MAX dimerization protein 3 gene DOID:14748 Sotos syndrome ISO RGD:734323 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8963711 Mxd3 MAX dimerization protein 3 gene DOID:630 genetic disease ISO RGD:734323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963711 Mxd3 MAX dimerization protein 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:734323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8963711 Mxd3 MAX dimerization protein 3 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:734323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8963721 LOC102024449 olfactory receptor 52R1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1354346 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8963721 LOC102024449 olfactory receptor 52R1 gene DOID:630 genetic disease ISO RGD:1354346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963736 Pmel premelanosome protein gene DOID:1909 melanoma ISO RGD:1316751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26640592 8963736 Pmel premelanosome protein gene DOID:630 genetic disease ISO RGD:1316751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963761 Capn15 calpain 15 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1315174 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8963761 Capn15 calpain 15 gene DOID:12270 coloboma ISO RGD:1315174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 8963761 Capn15 calpain 15 gene DOID:1826 epilepsy ISO RGD:1315174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 8963761 Capn15 calpain 15 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1315174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8963761 Capn15 calpain 15 gene DOID:630 genetic disease ISO RGD:1315174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963761 Capn15 calpain 15 gene DOID:9001664 OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME ISO RGD:1315174 D RGD:7240710 20210623 OMIM 8963761 Capn15 calpain 15 gene DOID:9001664 OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME ISO RGD:1315174 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oculogastrointestinal-neurodevelopmental syndrome PMID:25741868|PMID:32885237|PMID:33410501 8963787 Rhod ras homolog family member D gene DOID:1059 intellectual disability ISO RGD:1322195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8963787 Rhod ras homolog family member D gene DOID:630 genetic disease ISO RGD:1322195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963787 Rhod ras homolog family member D gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1322195 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8963787 Rhod ras homolog family member D gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1322195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8963821 Adrm1 ADRM1 26S proteasome ubiquitin receptor gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8963821 Adrm1 ADRM1 26S proteasome ubiquitin receptor gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:736707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8963821 Adrm1 ADRM1 26S proteasome ubiquitin receptor gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8963821 Adrm1 ADRM1 26S proteasome ubiquitin receptor gene DOID:10283 prostate cancer ISO RGD:736707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8963821 Adrm1 ADRM1 26S proteasome ubiquitin receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8963821 Adrm1 ADRM1 26S proteasome ubiquitin receptor gene DOID:630 genetic disease ISO RGD:736707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963835 C1ql3 complement C1q like 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1322092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8963835 C1ql3 complement C1q like 3 gene DOID:630 genetic disease ISO RGD:1322092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963841 Foxn1 forkhead box N1 gene DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy ISO RGD:1349825 D RGD:7240710 20180130 OMIM 8963841 Foxn1 forkhead box N1 gene DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy ISO RGD:1349825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:10206641|PMID:15180707|PMID:15897400|PMID:16199547|PMID:17576681|PMID:18339010|PMID:20864124|PMID:20978268|PMID:21507891|PMID:24033266|PMID:25173801|PMID:25741868|PMID:27484032|PMID:28492532|PMID:28636882|PMID:31447097|PMID:31566583|PMID:33464451|PMID:8911612|PMID:9536098 8963841 Foxn1 forkhead box N1 gene DOID:11198 DiGeorge syndrome ISO RGD:11489 D RGD:9068941 20220825 MouseDO OMIM:188400 8963841 Foxn1 forkhead box N1 gene DOID:11200 T cell deficiency ISO RGD:1349825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: T-lymphocyte deficiency PMID:10206641|PMID:15180707|PMID:28492532|PMID:31447097|PMID:31566583 8963841 Foxn1 forkhead box N1 gene DOID:12849 autistic disorder ISO RGD:1349825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 8963841 Foxn1 forkhead box N1 gene DOID:4123 nail disease ISO RGD:1349825 D RGD:9068941 20200609 RGD T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 PMID:10206641|REF_RGD_ID:1599846 8963841 Foxn1 forkhead box N1 gene DOID:612 primary immunodeficiency disease ISO RGD:1349825 D RGD:9068941 20200609 RGD T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 PMID:10206641|REF_RGD_ID:1599846 8963841 Foxn1 forkhead box N1 gene DOID:630 genetic disease ISO RGD:1349825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8963841 Foxn1 forkhead box N1 gene DOID:9002651 T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT ISO RGD:1349825 D RGD:7240710 20200826 OMIM 8963841 Foxn1 forkhead box N1 gene DOID:9002651 T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT ISO RGD:1349825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant PMID:10206641|PMID:15180707|PMID:15897400|PMID:18339010|PMID:20864124|PMID:20978268|PMID:21507891|PMID:25741868|PMID:28492532|PMID:28636882|PMID:31447097|PMID:31566583|PMID:33464451|PMID:8911612 8963841 Foxn1 forkhead box N1 gene DOID:9004911 Thymus Hyperplasia ISO RGD:3970 D RGD:9068941 20200609 RGD PMID:26931321|REF_RGD_ID:11568681 8963841 Foxn1 forkhead box N1 gene DOID:987 alopecia ISO RGD:1349825 D RGD:9068941 20200609 RGD T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 PMID:10206641|REF_RGD_ID:1599846 8963858 Pptc7 protein phosphatase targeting COQ7 gene DOID:630 genetic disease ISO RGD:1604734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963858 Pptc7 protein phosphatase targeting COQ7 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1604734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8963881 Cux2 cut like homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1314310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8963881 Cux2 cut like homeobox 2 gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:1314310 D RGD:7240710 20190315 OMIM 8963881 Cux2 cut like homeobox 2 gene DOID:0112203 developmental and epileptic encephalopathy 67 ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 PMID:20404132|PMID:23020937|PMID:25741868|PMID:28492532|PMID:28628100|PMID:29630738|PMID:29795476 8963881 Cux2 cut like homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1314310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8963881 Cux2 cut like homeobox 2 gene DOID:2224 essential thrombocythemia ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:20404132|PMID:25741868 8963881 Cux2 cut like homeobox 2 gene DOID:4971 myelofibrosis ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary myelofibrosis PMID:20404132|PMID:25741868 8963881 Cux2 cut like homeobox 2 gene DOID:630 genetic disease ISO RGD:1314310 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8963881 Cux2 cut like homeobox 2 gene DOID:687 hepatoblastoma ISO RGD:1314310 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:20404132|PMID:25741868 8963881 Cux2 cut like homeobox 2 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1314310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures 8963910 Brf1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0050871 fibroma ISO RGD:1311158 D RGD:9068941 20200609 RGD PMID:18456653|REF_RGD_ID:9586716 8963910 Brf1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0080446 developmental and epileptic encephalopathy 66 ISO RGD:1322467 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 PMID:25741868|PMID:28492532|PMID:32725632 8963910 Brf1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0080898 cerebellofaciodental syndrome ISO RGD:1322467 D RGD:7240710 20180130 OMIM 8963910 Brf1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0080898 cerebellofaciodental syndrome ISO RGD:1322467 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome PMID:25561519|PMID:25741868|PMID:27748960|PMID:28492532 8963910 Brf1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1322467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8963910 Brf1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1322467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8963910 Brf1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:10003 sensorineural hearing loss ISO RGD:1322467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8963910 Brf1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:1059 intellectual disability ISO RGD:1322467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8963910 Brf1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:630 genetic disease ISO RGD:1322467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25561519|PMID:25741868|PMID:28492532|PMID:33645901 8963910 Brf1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:9003936 Cardiomegaly ISO RGD:1322468 D RGD:9068941 20200609 RGD PMID:18420946|REF_RGD_ID:9686423 8963910 Brf1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1322467 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:32198086 8963910 Brf1 BRF1 RNA polymerase III transcription initiation factor subunit gene DOID:9256 colorectal cancer ISO RGD:1322467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8963933 Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:0050771 pheochromocytoma ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:0060041 autism spectrum disorder ISO RGD:735751 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs6323, rs1801291, rs3027407 (human) PMID:24356376|REF_RGD_ID:11535982 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:0060693 Brunner syndrome ISO RGD:735751 D RGD:7240710 20180130 OMIM 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:0060693 Brunner syndrome ISO RGD:735751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: MAOA-related condition PMID:11700166|PMID:17296899|PMID:17576681|PMID:20340138|PMID:22382802|PMID:24169519|PMID:25741868|PMID:25807999|PMID:28492532|PMID:30452590|PMID:8211186|PMID:9536098 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:0080000 muscular disease ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15946989 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:0080600 COVID-19 ISO RGD:735751 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:1059 intellectual disability ISO RGD:735751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:10652 Alzheimer's disease ISO RGD:735751 D RGD:9068941 20200609 RGD PMID:1627256|REF_RGD_ID:10046060 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:10939 antisocial personality disorder ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12161658|PMID:18212819|PMID:8503438 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:12849 autistic disorder ISO RGD:735751 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:28492532|PMID:30208311 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:12858 Huntington's disease ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21075085 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:13413 hepatic encephalopathy ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10206825|PMID:10564534|PMID:9048767 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:14330 Parkinson's disease ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17449559 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:150 disease of mental health ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22340208 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:1561 cognitive disorder ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24402517 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:1574 alcohol use disorder susceptibility ISO RGD:735751 D RGD:9068941 20200609 RGD PMID:15900229|REF_RGD_ID:1600720 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:289 endometriosis ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:594 panic disorder ISO RGD:735751 D RGD:9068941 20200609 RGD PMID:15670397|REF_RGD_ID:1600723 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:630 genetic disease ISO RGD:735751 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:6364 migraine no_association ISO RGD:735751 D RGD:9068941 20200609 RGD PMID:15088153|REF_RGD_ID:1600725 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22340208 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22340208 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8503438 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:9006024 Hypotension ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11834493 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:735751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 8963951 Maoa amine oxidase [flavin-containing] A gene DOID:9007996 End Stage Liver Disease ISO RGD:735751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15025246 8963976 Rgs12 regulator of G protein signaling 12 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:731521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8963976 Rgs12 regulator of G protein signaling 12 gene DOID:1856 cherubism ISO RGD:731521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8963976 Rgs12 regulator of G protein signaling 12 gene DOID:5419 schizophrenia ISO RGD:731521 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8963976 Rgs12 regulator of G protein signaling 12 gene DOID:630 genetic disease ISO RGD:731521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963997 Gprc6a G protein-coupled receptor class C group 6 member A gene DOID:0060163 body dysmorphic disorder ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8963997 Gprc6a G protein-coupled receptor class C group 6 member A gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1352441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8963997 Gprc6a G protein-coupled receptor class C group 6 member A gene DOID:1059 intellectual disability ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8963997 Gprc6a G protein-coupled receptor class C group 6 member A gene DOID:10907 microcephaly ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8963997 Gprc6a G protein-coupled receptor class C group 6 member A gene DOID:1826 epilepsy ISO RGD:1352441 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8963997 Gprc6a G protein-coupled receptor class C group 6 member A gene DOID:1923 disorder of sexual development ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8963997 Gprc6a G protein-coupled receptor class C group 6 member A gene DOID:630 genetic disease ISO RGD:1352441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8963997 Gprc6a G protein-coupled receptor class C group 6 member A gene DOID:9000495 Tremor ISO RGD:1352441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8963997 Gprc6a G protein-coupled receptor class C group 6 member A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352441 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8964013 Il3ra interleukin 3 receptor subunit alpha gene DOID:12849 autistic disorder ISO RGD:1348134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8964024 Tm7sf3 transmembrane 7 superfamily member 3 gene DOID:630 genetic disease ISO RGD:1315548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964043 Slc30a7 solute carrier family 30 member 7 gene DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ISO RGD:1317319 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties PMID:25741868|PMID:35482014 8964043 Slc30a7 solute carrier family 30 member 7 gene DOID:1826 epilepsy ISO RGD:1317319 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8964043 Slc30a7 solute carrier family 30 member 7 gene DOID:630 genetic disease ISO RGD:1317319 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8964043 Slc30a7 solute carrier family 30 member 7 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1317319 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 8964043 Slc30a7 solute carrier family 30 member 7 gene DOID:9000227 Hypogonadism and Testicular Atrophy ISO RGD:1317319 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Testicular atrophy PMID:25741868|PMID:36821639 8964043 Slc30a7 solute carrier family 30 member 7 gene DOID:9007427 ZIEGLER-HUANG SYNDROME ISO RGD:1317319 D RGD:7240710 20231115 OMIM 8964043 Slc30a7 solute carrier family 30 member 7 gene DOID:9007427 ZIEGLER-HUANG SYNDROME ISO RGD:1317319 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Ziegler-Huang syndrome PMID:25741868|PMID:36821639 8964043 Slc30a7 solute carrier family 30 member 7 gene DOID:9269 maple syrup urine disease ISO RGD:1317319 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8964058 Tbc1d1 TBC1 domain family member 1 gene DOID:0080205 CAKUT ISO RGD:1349688 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Non-syndromic renal or urinary tract malformation PMID:25741868 8964058 Tbc1d1 TBC1 domain family member 1 gene DOID:630 genetic disease ISO RGD:1349688 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8964058 Tbc1d1 TBC1 domain family member 1 gene DOID:9970 obesity ISO RGD:1349688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16893906|PMID:18325908|PMID:18931681 8964091 Mrpl24 mitochondrial ribosomal protein L24 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8964091 Mrpl24 mitochondrial ribosomal protein L24 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8964091 Mrpl24 mitochondrial ribosomal protein L24 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8964091 Mrpl24 mitochondrial ribosomal protein L24 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8964091 Mrpl24 mitochondrial ribosomal protein L24 gene DOID:1540 parathyroid carcinoma ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8964091 Mrpl24 mitochondrial ribosomal protein L24 gene DOID:5812 MHC class II deficiency ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8964091 Mrpl24 mitochondrial ribosomal protein L24 gene DOID:630 genetic disease ISO RGD:1344820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964091 Mrpl24 mitochondrial ribosomal protein L24 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8964101 Dner delta/notch like EGF repeat containing gene DOID:630 genetic disease ISO RGD:1605895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964122 Tmem268 transmembrane protein 268 gene DOID:630 genetic disease ISO RGD:1312125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964156 Ppp1r1a protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:0050700 cardiomyopathy ISO RGD:737038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071777 8964156 Ppp1r1a protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:6000 congestive heart failure ISO RGD:737038 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20071777 8964156 Ppp1r1a protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:630 genetic disease ISO RGD:737038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964156 Ppp1r1a protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:684 hepatocellular carcinoma ISO RGD:737038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15010824 8964156 Ppp1r1a protein phosphatase 1 regulatory inhibitor subunit 1A gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071777 8964166 Rin1 Ras and Rab interactor 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1348032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8964166 Rin1 Ras and Rab interactor 1 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 8964166 Rin1 Ras and Rab interactor 1 gene DOID:1059 intellectual disability ISO RGD:1348032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8964166 Rin1 Ras and Rab interactor 1 gene DOID:1909 melanoma ISO RGD:1348032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8964166 Rin1 Ras and Rab interactor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8964166 Rin1 Ras and Rab interactor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8964166 Rin1 Ras and Rab interactor 1 gene DOID:630 genetic disease ISO RGD:1348032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964166 Rin1 Ras and Rab interactor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1348032 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8964166 Rin1 Ras and Rab interactor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1348032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8964180 Kprp keratinocyte proline rich protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8964180 Kprp keratinocyte proline rich protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8964180 Kprp keratinocyte proline rich protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1353027 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8964180 Kprp keratinocyte proline rich protein gene DOID:10283 prostate cancer ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8964180 Kprp keratinocyte proline rich protein gene DOID:1540 parathyroid carcinoma ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8964180 Kprp keratinocyte proline rich protein gene DOID:5812 MHC class II deficiency ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8964180 Kprp keratinocyte proline rich protein gene DOID:630 genetic disease ISO RGD:1353027 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383 8964180 Kprp keratinocyte proline rich protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8964186 LOC102014666 cytochrome b-c1 complex subunit 7 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1323703 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 PMID:12709789|PMID:25446085|PMID:28492532|PMID:28604960 8964186 LOC102014666 cytochrome b-c1 complex subunit 7 gene DOID:0080112 mitochondrial complex III deficiency nuclear type 3 ISO RGD:1323703 D RGD:7240710 20180130 OMIM 8964186 LOC102014666 cytochrome b-c1 complex subunit 7 gene DOID:0080112 mitochondrial complex III deficiency nuclear type 3 ISO RGD:1323703 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 3 PMID:25741868 8964186 LOC102014666 cytochrome b-c1 complex subunit 7 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1323703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 8964186 LOC102014666 cytochrome b-c1 complex subunit 7 gene DOID:1596 depressive disorder ISO RGD:1311971 D RGD:9068941 20200609 RGD PMID:22311638|REF_RGD_ID:13801196 8964186 LOC102014666 cytochrome b-c1 complex subunit 7 gene DOID:630 genetic disease ISO RGD:1323703 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8964186 LOC102014666 cytochrome b-c1 complex subunit 7 gene DOID:655 inherited metabolic disorder ISO RGD:1323703 D RGD:9068941 20200609 RGD mitochondrial complex III deficiency, OMIM:124000 PMID:12709789|REF_RGD_ID:1599707 8964187 Il27 interleukin 27 gene DOID:0060496 respiratory allergy ISO RGD:1615620 D RGD:9068941 20200609 RGD PMID:20817868|REF_RGD_ID:4145651 8964187 Il27 interleukin 27 gene DOID:10303 sialadenitis exacerbates ISO RGD:1615620 D RGD:9068941 20210423 RGD mRNA:increased expression:saliva-secreting gland (mouse) PMID:32307922|REF_RGD_ID:126790516 8964187 Il27 interleukin 27 gene DOID:106 pleural tuberculosis ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with Pleural Effusion;protein:increased expression:pleural fluid (human) PMID:23962500|PMID:25753767|PMID:28844060|REF_RGD_ID:126790505|REF_RGD_ID:126790517|REF_RGD_ID:126790523 8964187 Il27 interleukin 27 gene DOID:106 pleural tuberculosis exacerbates ISO RGD:1343577 D RGD:9068941 20210430 RGD protein:increased expression:alveolar system (human) PMID:31819557|REF_RGD_ID:126790549 8964187 Il27 interleukin 27 gene DOID:10887 lepromatous leprosy ameliorates ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA:decreased expression:skin of body (human) PMID:26030183|REF_RGD_ID:126790539 8964187 Il27 interleukin 27 gene DOID:11123 Henoch-Schoenlein purpura ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)" PMID:33280050|REF_RGD_ID:126790550 8964187 Il27 interleukin 27 gene DOID:1123 spondyloarthropathy ISO RGD:11440 D RGD:9068941 20200609 RGD PMID:29494633|REF_RGD_ID:14995936 8964187 Il27 interleukin 27 gene DOID:12365 malaria ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:24522137|REF_RGD_ID:126790512 8964187 Il27 interleukin 27 gene DOID:12365 malaria ameliorates ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:26968425|REF_RGD_ID:11530371 8964187 Il27 interleukin 27 gene DOID:1273 respiratory syncytial virus infectious disease ameliorates ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:22301139|REF_RGD_ID:126790525 8964187 Il27 interleukin 27 gene DOID:14115 toxic shock syndrome ISO RGD:1615620 D RGD:9068941 20210430 RGD protein, mRNA:increased expression:blood serum, spleen (mouse) PMID:20435892|REF_RGD_ID:126790535 8964187 Il27 interleukin 27 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8964187 Il27 interleukin 27 gene DOID:1724 duodenal ulcer ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with Helicobacter Infections;protein:increased expression:blood serum (human) PMID:31702083|REF_RGD_ID:126790551 8964187 Il27 interleukin 27 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:23729211|REF_RGD_ID:39456136 8964187 Il27 interleukin 27 gene DOID:2043 hepatitis B ISO RGD:1343577 D RGD:9068941 20210423 RGD mRNA:increased expression:blood plasma (human) PMID:26925776|REF_RGD_ID:126790497 8964187 Il27 interleukin 27 gene DOID:2043 hepatitis B ISO RGD:1343577 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (human) PMID:22766719|REF_RGD_ID:126790543 8964187 Il27 interleukin 27 gene DOID:2043 hepatitis B exacerbates ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (human) PMID:19081304|REF_RGD_ID:39128258 8964187 Il27 interleukin 27 gene DOID:2841 asthma ISO RGD:1343577 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:20817868|REF_RGD_ID:4145651 8964187 Il27 interleukin 27 gene DOID:2841 asthma ISO RGD:1615620 D RGD:9068941 20200609 RGD PMID:17878337|PMID:19542437|REF_RGD_ID:5128479|REF_RGD_ID:5128491 8964187 Il27 interleukin 27 gene DOID:2841 asthma susceptibility ISO RGD:1343577 D RGD:9068941 20200609 RGD DNA:SNP: :g.-964A>G (human) PMID:17318299|REF_RGD_ID:5128485 8964187 Il27 interleukin 27 gene DOID:2841 asthma treatment ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:26595888|REF_RGD_ID:11076728 8964187 Il27 interleukin 27 gene DOID:2957 pulmonary tuberculosis ISO RGD:1343577 D RGD:9068941 20210430 RGD DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human) PMID:30948177|REF_RGD_ID:39456132 8964187 Il27 interleukin 27 gene DOID:2957 pulmonary tuberculosis exacerbates ISO RGD:1343577 D RGD:9068941 20210423 RGD DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human) PMID:31949807|REF_RGD_ID:126790508 8964187 Il27 interleukin 27 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343577 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-964A>G, 2905T>G (human) PMID:18554158|REF_RGD_ID:5128484 8964187 Il27 interleukin 27 gene DOID:321 tropical spastic paraparesis ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with HTLV-I Infections;mRNA:decreased expression:blood (human) PMID:24041428|REF_RGD_ID:126790519 8964187 Il27 interleukin 27 gene DOID:3944 Arenaviridae infectious disease ISO RGD:1615620 D RGD:9068941 20210430 RGD mRNA, protein:increased expression:spleen (mouse) PMID:29593047|REF_RGD_ID:126790521 8964187 Il27 interleukin 27 gene DOID:399 tuberculosis ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with Pleural Effusion;protein:increased expression:pleural effusion (human) PMID:25511588|REF_RGD_ID:126790514 8964187 Il27 interleukin 27 gene DOID:399 tuberculosis exacerbates ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA:increased expression:blood (human) PMID:26282876|REF_RGD_ID:11086047 8964187 Il27 interleukin 27 gene DOID:418 systemic scleroderma ISO RGD:1343577 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20705635|REF_RGD_ID:5128477 8964187 Il27 interleukin 27 gene DOID:5082 liver cirrhosis ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with hepatitis B;protein:increased expression:blood serum (human) PMID:22230324|REF_RGD_ID:126790507 8964187 Il27 interleukin 27 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with hepatitis C;protein:increased expression:blood plasma (human) PMID:24816922|REF_RGD_ID:126790553 8964187 Il27 interleukin 27 gene DOID:526 human immunodeficiency virus infectious disease ameliorates ISO RGD:1343577 D RGD:9068941 20210430 RGD protein:increased expression:blood plasma (human) PMID:28338007|REF_RGD_ID:126790518 8964187 Il27 interleukin 27 gene DOID:5419 schizophrenia ISO RGD:1343577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8964187 Il27 interleukin 27 gene DOID:552 pneumonia ISO RGD:1615620 D RGD:9068941 20200609 RGD PMID:19124731|REF_RGD_ID:5128483 8964187 Il27 interleukin 27 gene DOID:630 genetic disease ISO RGD:1343577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964187 Il27 interleukin 27 gene DOID:750 peptic ulcer disease ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with Helicobacter infections;protein:increased expression:blood serum (human) PMID:21791025|REF_RGD_ID:126790506 8964187 Il27 interleukin 27 gene DOID:8515 Cor pulmonale disease_progression ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with hand, foot and mouth disease;protein:altered expression:blood��serum (human) PMID:27403033|REF_RGD_ID:126790503 8964187 Il27 interleukin 27 gene DOID:8568 infectious mononucleosis ISO RGD:1343577 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (human) PMID:33571934|REF_RGD_ID:126790542 8964187 Il27 interleukin 27 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1343577 D RGD:9068941 20210430 RGD associated with hepatitis B;protein:increased expression:blood serum (human) PMID:23890319|PMID:31198792|REF_RGD_ID:126790526|REF_RGD_ID:126790529 8964187 Il27 interleukin 27 gene DOID:9000371 influenza A ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (human) PMID:22343630|REF_RGD_ID:126790513 8964187 Il27 interleukin 27 gene DOID:9000469 Viral Myocarditis ameliorates ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:26578236|REF_RGD_ID:126790546 8964187 Il27 interleukin 27 gene DOID:9000989 Pneumococcal Infections ISO RGD:1615620 D RGD:9068941 20210430 RGD associated with influenza A;protein:increased expression:lung (mouse) PMID:24408967|REF_RGD_ID:11556418 8964187 Il27 interleukin 27 gene DOID:9001934 Neonatal Sepsis ISO RGD:1343577 D RGD:9068941 20210507 RGD protien:increased expression:blood serum (human) PMID:22766719|REF_RGD_ID:126790543 8964187 Il27 interleukin 27 gene DOID:9001934 Neonatal Sepsis ISO RGD:1615620 D RGD:9068941 20210430 RGD protein:increased expression:blood serum (mouse) PMID:31818960|REF_RGD_ID:126790524 8964187 Il27 interleukin 27 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343577 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21801027|PMID:24028178 8964187 Il27 interleukin 27 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1615620 D RGD:9068941 20210430 RGD protein:decreased expression:blood serum (mouse) PMID:33403844|REF_RGD_ID:126790527 8964187 Il27 interleukin 27 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1343577 D RGD:9068941 20210430 RGD DNA:SNP:promoter:-964A>G (rs153109) (human) PMID:27221901|REF_RGD_ID:126790538 8964187 Il27 interleukin 27 gene DOID:9004484 Sepsis ISO RGD:1343577 D RGD:9068941 20210430 RGD mRNA:increased expression:blood, leukocyte (human) PMID:18227999|REF_RGD_ID:126790544 8964187 Il27 interleukin 27 gene DOID:9004484 Sepsis ISO RGD:1615620 D RGD:9068941 20210430 RGD associated with Herpesviridae Infections;protein:increased expression:blood serum, spleen (mouse) PMID:20493722|REF_RGD_ID:126790537 8964187 Il27 interleukin 27 gene DOID:9004484 Sepsis disease_progression ISO RGD:1343577 D RGD:9068941 20210423 RGD DNA:SNP:promoter:-964A>G (rs153109) (human) PMID:30268141|REF_RGD_ID:126790509 8964187 Il27 interleukin 27 gene DOID:9004484 Sepsis exacerbates ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood (human) PMID:22965735|REF_RGD_ID:126790502 8964187 Il27 interleukin 27 gene DOID:9004484 Sepsis severity ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:26767500|REF_RGD_ID:126790536 8964187 Il27 interleukin 27 gene DOID:9004945 Ocular Toxoplasmosis disease_progression ISO RGD:1615620 D RGD:9068941 20210423 RGD mRNA:increased expression:eye, cervical lymph node (mouse) PMID:29779048|REF_RGD_ID:126790500 8964187 Il27 interleukin 27 gene DOID:9005036 Bacteremia ISO RGD:1343577 D RGD:9068941 20210423 RGD protein:increased expression:blood serum (human) PMID:26514771|REF_RGD_ID:126790515 8964187 Il27 interleukin 27 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1615620 D RGD:9068941 20210423 RGD protein:increased expression:spleen, saliva-secreting gland (mouse) PMID:27926930|REF_RGD_ID:126790498 8964187 Il27 interleukin 27 gene DOID:9006732 Clostridium Infections ISO RGD:1343577 D RGD:9068941 20210423 RGD associated with diarrhea;protein:increased expression:blood��serum, feces (human) PMID:29140433|REF_RGD_ID:126790495 8964187 Il27 interleukin 27 gene DOID:9007367 Septic Peritonitis exacerbates ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:16880260|REF_RGD_ID:126790504 8964187 Il27 interleukin 27 gene DOID:9007417 Pseudomonas Infections ameliorates ISO RGD:1615620 D RGD:9068941 20210430 RGD associated with Sepsis PMID:25074706|REF_RGD_ID:126790541 8964187 Il27 interleukin 27 gene DOID:9065 leishmaniasis exacerbates ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:25466588|REF_RGD_ID:126790552 8964187 Il27 interleukin 27 gene DOID:9146 visceral leishmaniasis ISO RGD:1615620 D RGD:9068941 20210430 RGD mRNA, protein:increased expression:spleen, liver (mouse) PMID:27245409|REF_RGD_ID:126790520 8964187 Il27 interleukin 27 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430480 8964187 Il27 interleukin 27 gene DOID:9965 toxoplasmosis ISO RGD:1615620 D RGD:9068941 20210430 RGD PMID:22981537|REF_RGD_ID:126790522 8964187 Il27 interleukin 27 gene DOID:9965 toxoplasmosis susceptibility ISO RGD:1615620 D RGD:9068941 20210423 RGD PMID:31548322|REF_RGD_ID:126790501 8964199 Ctnnbl1 catenin beta like 1 gene DOID:11981 morbid obesity no_association ISO RGD:1346196 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) PMID:19228371|REF_RGD_ID:9850253 8964199 Ctnnbl1 catenin beta like 1 gene DOID:11981 morbid obesity susceptibility ISO RGD:1346196 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS7+3134G>T, IVS7-79A>G (rs6013029, rs6020846) (human) PMID:19245693|REF_RGD_ID:9850251 8964199 Ctnnbl1 catenin beta like 1 gene DOID:2234 focal epilepsy ISO RGD:1346196 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8964199 Ctnnbl1 catenin beta like 1 gene DOID:630 genetic disease ISO RGD:1346196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964199 Ctnnbl1 catenin beta like 1 gene DOID:9003255 Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias ISO RGD:1346196 D RGD:7240710 20220518 OMIM 8964199 Ctnnbl1 catenin beta like 1 gene DOID:9003255 Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias ISO RGD:1346196 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias PMID:32484799 8964199 Ctnnbl1 catenin beta like 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1346196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 8964199 Ctnnbl1 catenin beta like 1 gene DOID:9256 colorectal cancer ISO RGD:1346196 D RGD:9068941 20200609 RGD DNA:snps:introns: c.326+4380A>G, c.1213+1838T>C, c.1393-7258G>A (rs2344481, rs2281148, rs2235460) (human) PMID:21537400|REF_RGD_ID:9850254 8964229 LOC102017503 core histone macro-H2A.2 gene DOID:630 genetic disease ISO RGD:1347144 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964248 Aif1l allograft inflammatory factor 1 like gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1312901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8964248 Aif1l allograft inflammatory factor 1 like gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1312901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 8964248 Aif1l allograft inflammatory factor 1 like gene DOID:1612 breast cancer severity ISO RGD:1312901 D RGD:9068941 20200609 RGD PMID:30233209|REF_RGD_ID:13842475 8964248 Aif1l allograft inflammatory factor 1 like gene DOID:630 genetic disease ISO RGD:1312901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964277 Anks1a ankyrin repeat and sterile alpha motif domain containing 1A gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1319381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8964277 Anks1a ankyrin repeat and sterile alpha motif domain containing 1A gene DOID:3393 coronary artery disease ISO RGD:1319381 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378990 8964277 Anks1a ankyrin repeat and sterile alpha motif domain containing 1A gene DOID:630 genetic disease ISO RGD:1319381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964319 Cnn3 calponin 3 gene DOID:305 carcinoma ISO RGD:731963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8964319 Cnn3 calponin 3 gene DOID:630 genetic disease ISO RGD:731963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964319 Cnn3 calponin 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8964319 Cnn3 calponin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8964319 Cnn3 calponin 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8964349 Nudt1 nudix hydrolase 1 gene DOID:10652 Alzheimer's disease ISO RGD:731881 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:21538080|REF_RGD_ID:10449033 8964349 Nudt1 nudix hydrolase 1 gene DOID:10763 hypertension ISO RGD:621080 D RGD:9068941 20200609 RGD PMID:17280880|REF_RGD_ID:10449166 8964349 Nudt1 nudix hydrolase 1 gene DOID:630 genetic disease ISO RGD:731881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964349 Nudt1 nudix hydrolase 1 gene DOID:9001191 Cadmium Poisoning ISO RGD:621080 D RGD:9068941 20200609 RGD PMID:11817101|REF_RGD_ID:633232 8964349 Nudt1 nudix hydrolase 1 gene DOID:9002644 Premature Aging ISO RGD:731882 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampus PMID:21538080|REF_RGD_ID:10449033 8964349 Nudt1 nudix hydrolase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:621080 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:12036445|REF_RGD_ID:724605 8964349 Nudt1 nudix hydrolase 1 gene DOID:9008691 Liver Injury ISO RGD:621080 D RGD:9068941 20200609 RGD PMID:9547863|REF_RGD_ID:10449034 8964358 Fshr follicle stimulating hormone receptor gene DOID:0080493 ovarian dysgenesis 1 ISO RGD:735571 D RGD:7240710 20180130 OMIM 8964358 Fshr follicle stimulating hormone receptor gene DOID:0080493 ovarian dysgenesis 1 ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 1 PMID:10022448|PMID:10551778|PMID:11036902|PMID:11213123|PMID:11754099|PMID:11889179|PMID:12571157|PMID:15249125|PMID:15579795|PMID:15886248|PMID:16084888|PMID:16864747|PMID:17826728|PMID:18159088|PMID:19172541|PMID:19400992|PMID:20087398|PMID:20237833|PMID:21752882|PMID:22401810|PMID:23419799|PMID:25741868|PMID:28492532|PMID:29157895|PMID:30691934|PMID:31830376|PMID:7553856|PMID:8178824|PMID:9020851|PMID:9769327|PMID:9851774 8964358 Fshr follicle stimulating hormone receptor gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:735571 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 8964358 Fshr follicle stimulating hormone receptor gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:22617343|PMID:28492532 8964358 Fshr follicle stimulating hormone receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:735571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22885925 8964358 Fshr follicle stimulating hormone receptor gene DOID:13938 amenorrhea ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868 8964358 Fshr follicle stimulating hormone receptor gene DOID:14450 46 XX gonadal dysgenesis ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 8964358 Fshr follicle stimulating hormone receptor gene DOID:2999 granulosa cell tumor ISO RGD:735571 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 8964358 Fshr follicle stimulating hormone receptor gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:735571 D RGD:7240710 20180130 OMIM 8964358 Fshr follicle stimulating hormone receptor gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian hyperstimulation syndrome | ClinVar Annotator: match by term: Ovarian response to FSH stimulation PMID:10022448|PMID:11036902|PMID:11213123|PMID:12930928|PMID:15080154|PMID:15249125|PMID:15579795|PMID:15886248|PMID:16084888|PMID:16278261|PMID:16864747|PMID:17721928|PMID:17826728|PMID:18159088|PMID:19400992|PMID:21752882|PMID:22401810|PMID:23419799|PMID:25741868|PMID:28492532|PMID:8894317|PMID:9402264|PMID:9769327 8964358 Fshr follicle stimulating hormone receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 8964358 Fshr follicle stimulating hormone receptor gene DOID:630 genetic disease ISO RGD:735571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964358 Fshr follicle stimulating hormone receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:735571 D RGD:9068941 20200609 RGD sex cord-stromal tumors;DNA:point mutation:F591S PMID:9100567|REF_RGD_ID:1601234 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1349232 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0050476 Barth syndrome ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:3075 D RGD:9068941 20240201 RGD mRNA:increased expression:pituitary gland (rat) PMID:26509893|REF_RGD_ID:11344152 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:15351775|PMID:26605526|PMID:27247049|PMID:29618507|PMID:32043567 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0060040 pervasive developmental disorder ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22231481 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1349232 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:10854091|PMID:11055898|PMID:11738883|PMID:12111643|PMID:12966523|PMID:16473305|PMID:16690727|PMID:16844334|PMID:17089071|PMID:17387578|PMID:19652677|PMID:19914908|PMID:20151026|PMID:21982064|PMID:22516699|PMID:23921973|PMID:25741868|PMID:26984561|PMID:27799067|PMID:28492532|PMID:30536762|PMID:34837432 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349232 D RGD:7240710 20240313 OMIM 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349232 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE | ClinVar Annotator: match by term: MECP2 duplication syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, Lubs type | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12567420|PMID:12719401|PMID:12746405|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20815036|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21764336|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22497713|PMID:22516699|PMID:22525432|PMID:22679399|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24621584|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26347316|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26800272|PMID:26984561|PMID:27159028|PMID:27247049|PMID:27255190|PMID:27353517|PMID:27442528|PMID:27465203|PMID:27761913|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28257338|PMID:28351539|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29141583|PMID:29655203|PMID:30081849|PMID:30405208|PMID:30536762|PMID:30564305|PMID:30788845|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31535341|PMID:31690835|PMID:32393352|PMID:32477112|PMID:32581362|PMID:32860008|PMID:34837432|PMID:8177735|PMID:9536098|PMID:9546328 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome ISO RGD:1349232 D RGD:7240710 20240313 OMIM 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome ISO RGD:1349232 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11807877|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12673788|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15557528|PMID:15558314|PMID:15578581|PMID:15689435|PMID:15718369|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16080119|PMID:16122633|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16966553|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17171659|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18678449|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22497713|PMID:22516699|PMID:22525432|PMID:22670143|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:24033266|PMID:24321989|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24508304|PMID:24511209|PMID:24621584|PMID:24715477|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27353517|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28250423|PMID:28351539|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29720203|PMID:29758562|PMID:29961512|PMID:30081849|PMID:30083362|PMID:30536762|PMID:30564305|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31535341|PMID:31816669|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32860008|PMID:34324427|PMID:34837432|PMID:35606502|PMID:36430969|PMID:4413922|PMID:8177735|PMID:9038338|PMID:9377804|PMID:9546328 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:7240710 20240313 OMIM 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12555243|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15351775|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15675358|PMID:15689435|PMID:15689438|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17088400|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17172942|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17712354|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18477000|PMID:18499664|PMID:18562141|PMID:18572337|PMID:18652533|PMID:18678449|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22382802|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22578097|PMID:22923521|PMID:23220634|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25640679|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26852508|PMID:26930212|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27171548|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28186668|PMID:28250423|PMID:28394409|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29428920|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:30081849|PMID:30083362|PMID:30405208|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31439979|PMID:31535341|PMID:31629770|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32722525|PMID:32860008|PMID:34008892|PMID:34324427|PMID:4413922|PMID:5300597|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12555243|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15351775|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15675358|PMID:15689435|PMID:15689438|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17088400|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17172942|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17712354|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18047645|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18477000|PMID:18499664|PMID:18562141|PMID:18572337|PMID:18652533|PMID:18678449|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21624971|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22382802|PMID:22476991|PMID:22497713|PMID:22516699|PMID:22525432|PMID:22561697|PMID:22578097|PMID:22659343|PMID:22679399|PMID:22923521|PMID:23220634|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1349232 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:24321989|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24621584|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25640679|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26852508|PMID:26930212|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27171548|PMID:27255190|PMID:27353517|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28186668|PMID:28250423|PMID:28351539|PMID:28394409|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29428920|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:29758562|PMID:30081849|PMID:30083362|PMID:30405208|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31206249|PMID:31439979|PMID:31535341|PMID:31602196|PMID:31629770|PMID:31816669|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32722525|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:4413922|PMID:5300597|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349232 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:10588 adrenoleukodystrophy ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20151026|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29720203|PMID:30536762|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27929079|PMID:28394482|PMID:28492532|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28394482|PMID:28492532|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1349232 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:26936630|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29720203|PMID:29758562|PMID:30536762|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:9038338 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:10907 microcephaly ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:11007980|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1349232 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:10767337|PMID:12384770|PMID:12566531|PMID:12872250|PMID:16763963|PMID:18414213|PMID:28492532|PMID:34837432 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:11162 respiratory failure ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:11832 visual epilepsy ISO RGD:3075 D RGD:9068941 20220728 RGD mRNA:increased expression:dentate gyrus PMID:12123686|REF_RGD_ID:9587847 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:1349232 D RGD:7240710 20240313 OMIM 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:1349232 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:10508514|PMID:1057790|PMID:10577905|PMID:10737989|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11022934|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524737|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11807877|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081720|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12481990|PMID:12552569|PMID:12555243|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966522|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15241799|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15557528|PMID:15558314|PMID:15578581|PMID:15675358|PMID:15689438|PMID:15691364|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15841480|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16630165|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16829352|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:16966553|PMID:17026625|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17171659|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18652533|PMID:18678449|PMID:18688080|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19592282|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21812101|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22001500|PMID:22106023|PMID:22119903|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22382802|PMID:22476991|PMID:22497713|PMID:22516699|PMID:22525432|PMID:22561697|PMID:22670143|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:1206 Rett syndrome ISO RGD:1349232 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23866855|PMID:23921973|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24621584|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25590979|PMID:25634563|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27353517|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28135719|PMID:28250423|PMID:28351539|PMID:28394482|PMID:28397838|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:29758562|PMID:29961512|PMID:30081849|PMID:30083362|PMID:30405208|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30842224|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31206249|PMID:31439979|PMID:31535341|PMID:31629770|PMID:31645986|PMID:31816669|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34374989|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:4413922|PMID:5300597|PMID:8166633|PMID:8177735|PMID:9038338|PMID:9377804|PMID:9536098|PMID:9546328 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1349232 D RGD:7240710 20240313 OMIM 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1349232 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 | ClinVar Annotator: match by term: Autistic behavior PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12566531|PMID:12567420|PMID:12673788|PMID:12719401|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15578581|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20815036|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21681106|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22516699|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29655203|PMID:29720203|PMID:30208311|PMID:30536762|PMID:30564305|PMID:30868116|PMID:31535341|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32581362|PMID:32860008|PMID:34837432|PMID:8177735|PMID:9038338 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:12849 autistic disorder ISO RGD:1349232 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12566531|PMID:12567420|PMID:12673788|PMID:12719401|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15578581|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20815036|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21681106|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22516699|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24621584|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27353517|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28351539|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29655203|PMID:29720203|PMID:30208311|PMID:30536762|PMID:30564305|PMID:30868116|PMID:31535341|PMID:31816669|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32860008|PMID:34837432|PMID:35606502|PMID:36430969|PMID:8177735|PMID:9038338 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:13628 favism ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:1826 epilepsy ISO RGD:1349232 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:10767337|PMID:10854091|PMID:11245712|PMID:11524741|PMID:12075485|PMID:12111643|PMID:12180070|PMID:12615169|PMID:16473305|PMID:16690727|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18174559|PMID:19914908|PMID:20151026|PMID:20301670|PMID:21160487|PMID:21954873|PMID:21982064|PMID:22277191|PMID:25741868|PMID:28492532|PMID:34837432 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:1932 Angelman syndrome ISO RGD:1349232 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Angelman syndrome | ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11022934|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283202|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12655490|PMID:12673788|PMID:12707946|PMID:12719401|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15737703|PMID:15866439|PMID:16122633|PMID:16183801|PMID:16225173|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16905679|PMID:17089071|PMID:17101771|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17387578|PMID:17881312|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18989701|PMID:19133691|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20116947|PMID:20231667|PMID:20301670|PMID:20631224|PMID:20661168|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:22561697|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24511209|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25533962|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:27929079|PMID:28135719|PMID:28394482|PMID:28492532|PMID:29758562|PMID:30536762|PMID:30564305|PMID:30868116|PMID:31439979|PMID:32393352|PMID:32472557|PMID:32860008|PMID:34324427|PMID:34837432|PMID:4413922|PMID:8177735 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:2030 anxiety disorder ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22231481 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:2234 focal epilepsy ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:224 transient cerebral ischemia ISO RGD:3075 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12421618|REF_RGD_ID:9587846 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:2303 stereotypic movement disorder ISO RGD:1349232 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:15737703|PMID:25741868|PMID:34837432 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1349232 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21435439 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:5419 schizophrenia ISO RGD:1349232 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:20479760|PMID:34837432 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:607 paraplegia ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:630 genetic disease ISO RGD:1349232 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10508514|PMID:1057790|PMID:10577905|PMID:10737989|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11227330|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081720|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14986829|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15558314|PMID:15578581|PMID:15718369|PMID:15737703|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16122633|PMID:16169931|PMID:16182490|PMID:16183801|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17236109|PMID:17267601|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17505203|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18652533|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20384458|PMID:20405910|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21228398|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21695138|PMID:21764336|PMID:21831886|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22497713|PMID:22516699|PMID:22525432|PMID:22561697|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25741868|PMID:25927341|PMID:26064184|PMID:26175308|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28186668 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:630 genetic disease ISO RGD:1349232 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28250423|PMID:28394409|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28498846|PMID:28544139|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29720203|PMID:29758562|PMID:30081849|PMID:30083362|PMID:30536762|PMID:30564305|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31535341|PMID:31816669|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:4413922|PMID:5300597|PMID:8166633|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26189965 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:3075 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11844796|REF_RGD_ID:2289670 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:77 gastrointestinal system disease susceptibility ISO RGD:1349232 D RGD:9068941 20200609 RGD associated with Rett Syndrome;DNA:mutations:multiple (human) PMID:22331013|REF_RGD_ID:12790976 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:8927 learning disability ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921286 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9001325 Rett Syndrome, Atypical ISO RGD:1349232 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:10508514|PMID:10854091|PMID:11035019|PMID:11055898|PMID:11269512|PMID:11283202|PMID:11313756|PMID:11524741|PMID:11738883|PMID:12180070|PMID:15737703|PMID:17089071|PMID:17387578|PMID:19914908|PMID:25741868|PMID:25927341|PMID:28492532|PMID:34837432 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9002211 Hyperalgesia ISO RGD:1349232 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33010341 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3075 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:16380407|REF_RGD_ID:9588242 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9002720 Splenomegaly ISO RGD:1349232 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349232 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:10767337|PMID:10991688|PMID:11007980|PMID:11055848|PMID:11055898|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:14649554|PMID:15057977|PMID:16473305|PMID:18414213|PMID:20301670|PMID:21831886|PMID:23696494|PMID:23770565|PMID:23921973|PMID:24328834|PMID:24511209|PMID:24970834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362|PMID:34837432 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9004536 Rett Syndrome, Zappella Variant ISO RGD:1349232 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Rett syndrome, zappella variant PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10852707|PMID:10854091|PMID:10991688|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11106359|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309679|PMID:11313756|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12111643|PMID:12180070|PMID:12325033|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746406|PMID:12770674|PMID:12843318|PMID:12966523|PMID:14560307|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15737703|PMID:16122633|PMID:16473305|PMID:16690727|PMID:16763963|PMID:16844334|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17341617|PMID:17387578|PMID:17986102|PMID:18332345|PMID:18414213|PMID:18562141|PMID:18989701|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20151026|PMID:20301670|PMID:21160487|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22516699|PMID:23260135|PMID:23262346|PMID:23421866|PMID:23696494|PMID:23810759|PMID:23921973|PMID:25741868|PMID:26175308|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:26842955|PMID:26984561|PMID:27799067|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29655203|PMID:29758562|PMID:30536762|PMID:32472557|PMID:34324427|PMID:34837432|PMID:4413922 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9004538 Hearing Loss ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11007980|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9005603 Muscle Hypotonia ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9005616 Micrognathism ISO RGD:1349232 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:11007980|PMID:11071498|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28492532|PMID:32581362 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711185 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9005632 Cocaine-Related Disorders treatment ISO RGD:3075 D RGD:9068941 20200609 RGD PMID:20711185|REF_RGD_ID:12789445 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1349232 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.E137G, p.R167W (human) PMID:11309367|REF_RGD_ID:1601320 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9006205 Animal Disease Models ISO RGD:1349232 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:28592917|PMID:33010341 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1349232 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12111643|PMID:12180070|PMID:12325033|PMID:1241840|PMID:12567420|PMID:12719401|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14560307|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15737703|PMID:15866439|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16763963|PMID:16905679|PMID:17089071|PMID:17236109|PMID:17341617|PMID:17351020|PMID:17387578|PMID:17881312|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20116947|PMID:20231667|PMID:20301670|PMID:20631224|PMID:20661168|PMID:21160487|PMID:21420494|PMID:21575601|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23696494|PMID:23810759|PMID:23921973|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26467025|PMID:26647311|PMID:28135719|PMID:28492532|PMID:30564305|PMID:30868116|PMID:34837432|PMID:8177735 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9007722 Myoclonus ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1349232 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11738860|PMID:11738864|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11913567|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12325033|PMID:12746405|PMID:12872250|PMID:12872251|PMID:14536082|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15737703|PMID:16077729|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:17089071|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18334558|PMID:18652533|PMID:19722030|PMID:20031356|PMID:20301670|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21695138|PMID:21982064|PMID:22277191|PMID:23238081|PMID:23262346|PMID:23270700|PMID:24283265|PMID:24399845|PMID:24511209|PMID:24626160|PMID:25167861|PMID:25541993|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34008892|PMID:34837432 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9008514 Psychomotor Disorders ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098342 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9008582 Developmental Disease ISO RGD:1349232 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28492532 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9008689 Facial Hypertrichosis ISO RGD:1349232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial hypertrichosis PMID:32581362 8964415 Mecp2 methyl-CpG binding protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1349232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19559301 8964435 Pla2g12a phospholipase A2 group XIIA gene DOID:630 genetic disease ISO RGD:1312232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964435 Pla2g12a phospholipase A2 group XIIA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8964443 Phospho1 phosphoethanolamine/phosphocholine phosphatase 1 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1314655 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8964443 Phospho1 phosphoethanolamine/phosphocholine phosphatase 1 gene DOID:630 genetic disease ISO RGD:1314655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964443 Phospho1 phosphoethanolamine/phosphocholine phosphatase 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1314655 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773408 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:0080413 developmental and epileptic encephalopathy 18 ISO RGD:1603692 D RGD:7240710 20180130 OMIM 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:0080413 developmental and epileptic encephalopathy 18 ISO RGD:1603692 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 | ClinVar Annotator: match by term: SZT2-related condition PMID:16199547|PMID:17576681|PMID:23932106|PMID:25741868|PMID:26467025|PMID:27159321|PMID:27248490|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:29696782|PMID:30359774|PMID:30560016|PMID:30564332|PMID:30755392|PMID:30818181|PMID:32402703|PMID:32723703|PMID:35773235|PMID:9536098 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:28492532 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:1059 intellectual disability ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:11383 cryptorchidism ISO RGD:1603692 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868|PMID:28492532|PMID:30564332|PMID:30755392|PMID:35773235 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:11832 visual epilepsy ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:17576681|PMID:25741868|PMID:26467025|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:9536098 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:1826 epilepsy ISO RGD:1603692 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:25741868|PMID:26467025|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:9536098 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:1826 epilepsy ISO RGD:1603692 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:630 genetic disease ISO RGD:1603692 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23932106|PMID:25741868|PMID:26467025|PMID:27248490|PMID:28491533|PMID:28492532|PMID:28556953|PMID:29358611|PMID:30564332|PMID:9536098 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:9000983 Encephalocele ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalocele PMID:23932106|PMID:25741868|PMID:28492532|PMID:31680349 8964463 Szt2 SZT2 subunit of KICSTOR complex gene DOID:9970 obesity ISO RGD:1603692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 8964542 Nkx1-2 NK1 homeobox 2 gene DOID:630 genetic disease ISO RGD:1315537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964549 Ect2 epithelial cell transforming 2 gene DOID:1062 Fanconi syndrome ISO RGD:1318344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8964549 Ect2 epithelial cell transforming 2 gene DOID:630 genetic disease ISO RGD:1318344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964549 Ect2 epithelial cell transforming 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1318344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8964549 Ect2 epithelial cell transforming 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318344 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8964593 Dok7 docking protein 7 gene DOID:0110668 congenital myasthenic syndrome 10 ISO RGD:1604958 D RGD:7240710 20180130 OMIM 8964593 Dok7 docking protein 7 gene DOID:0110668 congenital myasthenic syndrome 10 ISO RGD:1604958 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 PMID:10222457|PMID:1483054|PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18567858|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:25849006|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:31880392|PMID:33146414|PMID:9536098 8964593 Dok7 docking protein 7 gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:1604958 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425|PMID:31880392 8964593 Dok7 docking protein 7 gene DOID:0111376 fetal akinesia deformation sequence syndrome 3 ISO RGD:1604958 D RGD:7240710 20190501 OMIM 8964593 Dok7 docking protein 7 gene DOID:0111376 fetal akinesia deformation sequence syndrome 3 ISO RGD:1604958 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:31880392|PMID:33146414|PMID:33756069|PMID:9536098 8964593 Dok7 docking protein 7 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604958 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence PMID:10222457|PMID:1483054|PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25625551|PMID:25741868|PMID:25849006|PMID:26436962|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31618753|PMID:31880392|PMID:32331917|PMID:33146414|PMID:9536098 8964593 Dok7 docking protein 7 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1604958 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence PMID:10222457|PMID:1483054|PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25625551|PMID:25741868|PMID:25849006|PMID:26436962|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31618753|PMID:31880392|PMID:32331917|PMID:33146414|PMID:36099689|PMID:36579833|PMID:9536098 8964593 Dok7 docking protein 7 gene DOID:1206 Rett syndrome ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16917026|PMID:18161030|PMID:18626973|PMID:21850686|PMID:22661499|PMID:25741868|PMID:28492532|PMID:31880392 8964593 Dok7 docking protein 7 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 8964593 Dok7 docking protein 7 gene DOID:1856 cherubism ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8964593 Dok7 docking protein 7 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25849006|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29118959|PMID:31880392 8964593 Dok7 docking protein 7 gene DOID:3635 congenital myasthenic syndrome ISO RGD:1604958 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:31880392|PMID:33756069 8964593 Dok7 docking protein 7 gene DOID:630 genetic disease ISO RGD:1604958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425 8964610 Neto2 neuropilin and tolloid like 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1313264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8964610 Neto2 neuropilin and tolloid like 2 gene DOID:0080600 COVID-19 ISO RGD:1313264 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8964610 Neto2 neuropilin and tolloid like 2 gene DOID:0111041 glycogen storage disease IXB ISO RGD:1313264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 8964610 Neto2 neuropilin and tolloid like 2 gene DOID:10283 prostate cancer ISO RGD:1313264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8964610 Neto2 neuropilin and tolloid like 2 gene DOID:630 genetic disease ISO RGD:1313264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964610 Neto2 neuropilin and tolloid like 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1313264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8964633 Camsap2 calmodulin regulated spectrin associated protein family member 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1604039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8964633 Camsap2 calmodulin regulated spectrin associated protein family member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8964633 Camsap2 calmodulin regulated spectrin associated protein family member 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8964633 Camsap2 calmodulin regulated spectrin associated protein family member 2 gene DOID:630 genetic disease ISO RGD:1604039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964633 Camsap2 calmodulin regulated spectrin associated protein family member 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604039 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8964633 Camsap2 calmodulin regulated spectrin associated protein family member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8964667 Prdm8 PR/SET domain 8 gene DOID:0080600 COVID-19 ISO RGD:1323184 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8964667 Prdm8 PR/SET domain 8 gene DOID:0111445 progressive myoclonus epilepsy 10 ISO RGD:1323184 D RGD:7240710 20180130 OMIM 8964667 Prdm8 PR/SET domain 8 gene DOID:0111445 progressive myoclonus epilepsy 10 ISO RGD:1323184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Lafora body disease PMID:22961547|PMID:25741868|PMID:28492532 8964667 Prdm8 PR/SET domain 8 gene DOID:630 genetic disease ISO RGD:1323184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8964667 Prdm8 PR/SET domain 8 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1323184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8964676 Adcy9 adenylate cyclase 9 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8964676 Adcy9 adenylate cyclase 9 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1312370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8964676 Adcy9 adenylate cyclase 9 gene DOID:1826 epilepsy ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8964676 Adcy9 adenylate cyclase 9 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312370 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8964676 Adcy9 adenylate cyclase 9 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1312370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:12114483|PMID:15706485|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8964676 Adcy9 adenylate cyclase 9 gene DOID:3324 mood disorder no_association ISO RGD:1312370 D RGD:9068941 20200609 RGD DNA:polymorphisms:repeat,cds: PMID:11840511|REF_RGD_ID:1358365 8964676 Adcy9 adenylate cyclase 9 gene DOID:630 genetic disease ISO RGD:1312370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964676 Adcy9 adenylate cyclase 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8964690 Kidins220 kinase D interacting substrate 220 gene DOID:1059 intellectual disability ISO RGD:732181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8964690 Kidins220 kinase D interacting substrate 220 gene DOID:1969 cerebral palsy ISO RGD:732181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8964690 Kidins220 kinase D interacting substrate 220 gene DOID:630 genetic disease ISO RGD:732181 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8964690 Kidins220 kinase D interacting substrate 220 gene DOID:9006183 Ventriculomegaly and Arthrogryposis ISO RGD:732181 D RGD:7240710 20210908 OMIM 8964690 Kidins220 kinase D interacting substrate 220 gene DOID:9006183 Ventriculomegaly and Arthrogryposis ISO RGD:732181 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KIDINS220-related condition | ClinVar Annotator: match by term: Ventriculomegaly and arthrogryposis PMID:25741868|PMID:28492532|PMID:28934391|PMID:32909676|PMID:33205811 8964690 Kidins220 kinase D interacting substrate 220 gene DOID:9008346 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY ISO RGD:732181 D RGD:7240710 20190315 OMIM 8964690 Kidins220 kinase D interacting substrate 220 gene DOID:9008346 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY ISO RGD:732181 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity PMID:17576681|PMID:25741868|PMID:27005418|PMID:28492532|PMID:28934391|PMID:29667355|PMID:9536098 8964735 Tnxb tenascin XB gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1345578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8964735 Tnxb tenascin XB gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1345578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:10408786|PMID:10857554|PMID:10908170|PMID:11220701|PMID:12220458|PMID:12384784|PMID:14715874|PMID:15858147|PMID:17164306|PMID:1864962|PMID:19773403|PMID:20301350|PMID:21532487|PMID:23269230|PMID:23359698|PMID:23769969|PMID:24033266|PMID:25481255|PMID:25525159|PMID:25538881|PMID:25741868|PMID:26209023|PMID:26467025|PMID:26804566|PMID:28392195|PMID:28401898|PMID:28492532|PMID:28644547|PMID:28819757|PMID:29386111|PMID:29715434|PMID:30048636|PMID:3038528|PMID:30833958|PMID:30889569|PMID:30995443|PMID:31159521|PMID:31446012|PMID:31571129|PMID:31586465|PMID:31637888|PMID:31980526|PMID:32185686|PMID:32272826|PMID:32358738|PMID:32367404|PMID:32616876|PMID:32647925|PMID:3267225|PMID:32714392|PMID:32903448|PMID:33083013|PMID:33240318|PMID:33710594|PMID:33715135|PMID:34540367|PMID:8034294|PMID:8741909|PMID:9378109 8964735 Tnxb tenascin XB gene DOID:0080731 Ehlers-Danlos syndrome classic-like 1 ISO RGD:1345578 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency PMID:11642233|PMID:11925569|PMID:12865992|PMID:15733269|PMID:20649799|PMID:20853426|PMID:23284009|PMID:23555315|PMID:23620400|PMID:23768946|PMID:24033266|PMID:24088041|PMID:25333069|PMID:25741868|PMID:26075496|PMID:26257771|PMID:26408188|PMID:26633545|PMID:26662719|PMID:27582382|PMID:27796757|PMID:28344932|PMID:28492532|PMID:30115950|PMID:31141158|PMID:31702543|PMID:31731524|PMID:32164334|PMID:32214361|PMID:32572181|PMID:33332743 8964735 Tnxb tenascin XB gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1345578 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:11642233|PMID:15733269|PMID:20649799|PMID:20853426|PMID:23555315|PMID:23620400|PMID:24033266|PMID:24088041|PMID:25047945|PMID:25326637|PMID:25333069|PMID:25741868|PMID:26075496|PMID:26257771|PMID:26275793|PMID:26408188|PMID:26633545|PMID:26662719|PMID:27796757|PMID:29590070|PMID:30975432|PMID:31141158|PMID:31702543|PMID:32164334|PMID:32214361 8964735 Tnxb tenascin XB gene DOID:14757 Ehlers-Danlos syndrome hypermobility type ISO RGD:1345578 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 PMID:25326637|PMID:25741868 8964735 Tnxb tenascin XB gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1345578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 8964735 Tnxb tenascin XB gene DOID:630 genetic disease ISO RGD:1345578 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11642233|PMID:20649799|PMID:25741868|PMID:27796757|PMID:31702543 8964735 Tnxb tenascin XB gene DOID:9000781 Cyanosis ISO RGD:1345578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cyanosis PMID:25741868 8964735 Tnxb tenascin XB gene DOID:9003723 Vesicoureteral Reflux 8 ISO RGD:1345578 D RGD:7240710 20180130 OMIM 8964735 Tnxb tenascin XB gene DOID:9003723 Vesicoureteral Reflux 8 ISO RGD:1345578 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: TNXB-related condition | ClinVar Annotator: match by term: Vesicoureteral reflux 8 PMID:23555315|PMID:23620400|PMID:24088041|PMID:25741868|PMID:26257771|PMID:26408188|PMID:26633545|PMID:26662719|PMID:27582382|PMID:27657687|PMID:28492532|PMID:30115950|PMID:31141158|PMID:31702543|PMID:32164334|PMID:32214361|PMID:32572181 8964735 Tnxb tenascin XB gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1345578 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:10408786|PMID:10496074|PMID:10720040|PMID:10857554|PMID:10908170|PMID:11220701|PMID:12220458|PMID:12384784|PMID:14513879|PMID:14715874|PMID:1496017|PMID:15110320|PMID:15858147|PMID:1644925|PMID:16788163|PMID:17119906|PMID:17164306|PMID:1864962|PMID:19505723|PMID:19773403|PMID:20301350|PMID:21134444|PMID:21169732|PMID:21228398|PMID:21329531|PMID:21532487|PMID:21534945|PMID:22841790|PMID:2303461|PMID:23166432|PMID:23241443|PMID:23269230|PMID:23359698|PMID:23359706|PMID:23769969|PMID:24033266|PMID:24077358|PMID:24904866|PMID:25227725|PMID:25481255|PMID:25525159|PMID:25538881|PMID:25630015|PMID:25741868|PMID:26206692|PMID:26209023|PMID:26467025|PMID:26804566|PMID:28392195|PMID:28401898|PMID:28492532|PMID:28644547|PMID:28741757|PMID:28819757|PMID:29386111|PMID:29715434|PMID:29996815|PMID:30048636|PMID:3038528|PMID:30833958|PMID:30889569|PMID:30968594|PMID:30995443|PMID:31159521|PMID:31446012|PMID:31571129|PMID:31586465|PMID:31637888|PMID:31980526|PMID:32185686|PMID:32272826|PMID:32289882|PMID:32358738|PMID:32367404|PMID:32616876|PMID:32647925|PMID:3267225|PMID:32714392|PMID:32838438|PMID:32903448|PMID:33083013|PMID:33240318|PMID:33604243|PMID:33710594|PMID:33715135|PMID:34540367|PMID:37011374|PMID:8034294|PMID:8741909|PMID:9099839|PMID:9187661|PMID:9215318|PMID:9378109 8964735 Tnxb tenascin XB gene DOID:9620 vesicoureteral reflux ISO RGD:1345578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8964771 Rnf122 ring finger protein 122 gene DOID:630 genetic disease ISO RGD:1352221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964783 Rbpms RNA binding protein, mRNA processing factor gene DOID:630 genetic disease ISO RGD:1342648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964793 Znf879 zinc finger protein 879 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:3029695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 8964793 Znf879 zinc finger protein 879 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:3029695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8964793 Znf879 zinc finger protein 879 gene DOID:14748 Sotos syndrome ISO RGD:3029695 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8964793 Znf879 zinc finger protein 879 gene DOID:630 genetic disease ISO RGD:3029695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964802 Mboat2 membrane bound O-acyltransferase domain containing 2 gene DOID:630 genetic disease ISO RGD:1314050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964802 Mboat2 membrane bound O-acyltransferase domain containing 2 gene DOID:9005369 Hepatomegaly ISO RGD:1314050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8964826 Midn midnolin gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1320070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8964826 Midn midnolin gene DOID:5339 cyclic hematopoiesis ISO RGD:1320070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8964826 Midn midnolin gene DOID:630 genetic disease ISO RGD:1320070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964843 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1353926 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8964843 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:0050730 coenzyme Q10 deficiency disease ISO RGD:1353926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary 8964843 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:0070240 primary coenzyme Q10 deficiency 3 ISO RGD:1353926 D RGD:7240710 20180130 OMIM 8964843 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:0070240 primary coenzyme Q10 deficiency 3 ISO RGD:1353926 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3 | ClinVar Annotator: match by term: PDSS2-related condition PMID:17186472|PMID:17374725|PMID:17576681|PMID:19096106|PMID:20495179|PMID:20689595|PMID:23816342|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29127259|PMID:9536098 8964843 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:1184 nephrotic syndrome ISO RGD:1353926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:17186472|PMID:17374725|PMID:19096106|PMID:20689595|PMID:23816342|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29127259 8964843 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353926 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 8964843 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:557 kidney disease ISO RGD:1353926 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 8964843 Pdss2 decaprenyl diphosphate synthase subunit 2 gene DOID:630 genetic disease ISO RGD:1353926 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8964855 Ppp2r2c protein phosphatase 2 regulatory subunit Bgamma gene DOID:630 genetic disease ISO RGD:732376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964855 Ppp2r2c protein phosphatase 2 regulatory subunit Bgamma gene DOID:9002884 Emphysema ISO RGD:732376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22223484 8964867 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:737380 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8964867 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:0080016 spina bifida ISO RGD:737380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17184542 8964867 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy ISO RGD:737380 D RGD:7240710 20180130 OMIM 8964867 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy ISO RGD:737380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome PMID:15326626|PMID:21412974|PMID:24387990|PMID:24387991|PMID:25741868|PMID:28272537|PMID:28492532|PMID:30559292 8964867 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:12849 autistic disorder ISO RGD:737380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8964867 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:14791 Leber congenital amaurosis ISO RGD:737380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 8964867 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:5419 schizophrenia ISO RGD:737380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8964867 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:630 genetic disease ISO RGD:737380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15326626|PMID:24387990|PMID:28492532|PMID:30559292 8964867 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:9003348 Congenital Generalized Lipodystrophy Type 5 ISO RGD:737380 D RGD:7240710 20240124 OMIM 8964867 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:9003348 Congenital Generalized Lipodystrophy Type 5 ISO RGD:737380 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lipodystrophy, congenital generalized, type 5 PMID:24889630 8964867 Pcyt1a phosphate cytidylyltransferase 1A, choline gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8964898 Derl3 derlin 3 gene DOID:0070045 Coffin-Siris syndrome 3 ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 8964898 Derl3 derlin 3 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 8964898 Derl3 derlin 3 gene DOID:1826 epilepsy ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8964898 Derl3 derlin 3 gene DOID:2129 atypical teratoid rhabdoid tumor ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 PMID:28492532 8964898 Derl3 derlin 3 gene DOID:5419 schizophrenia ISO RGD:1353725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8964898 Derl3 derlin 3 gene DOID:630 genetic disease ISO RGD:1353725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964927 Nfia nuclear factor I A gene DOID:0060409 NFIA-related disorder ISO RGD:69144 D RGD:7240710 20190315 OMIM 8964927 Nfia nuclear factor I A gene DOID:0060409 NFIA-related disorder ISO RGD:69144 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brain malformations with or without urinary tract defects | ClinVar Annotator: match by term: Chromosome 1p32-p31 deletion syndrome | ClinVar Annotator: match by term: NFIA-related condition | ClinVar Annotator: match by term: NFIA-related disorder PMID:10518556|PMID:17530927|PMID:19058033|PMID:19763616|PMID:20673863|PMID:22301465|PMID:22542183|PMID:24098143|PMID:24267886|PMID:24462883|PMID:24657733|PMID:25714559|PMID:25741868|PMID:27081522|PMID:28492532|PMID:31194316|PMID:31730271|PMID:38188845 8964927 Nfia nuclear factor I A gene DOID:1059 intellectual disability ISO RGD:69144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8964927 Nfia nuclear factor I A gene DOID:630 genetic disease ISO RGD:69144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10518556|PMID:1618796|PMID:17530927|PMID:19058033|PMID:19763616|PMID:20673863|PMID:22301465|PMID:22542183|PMID:24098143|PMID:24267886|PMID:24462883|PMID:24657733|PMID:25741868|PMID:27081522|PMID:28492532 8964927 Nfia nuclear factor I A gene DOID:9003816 Macrocephaly ISO RGD:69144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 8964927 Nfia nuclear factor I A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69144 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8964948 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0050795 cone dystrophy ISO RGD:1319524 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY PMID:16909397|PMID:17896311|PMID:18235024|PMID:21882291|PMID:23885164|PMID:25741868|PMID:28492532|PMID:36909829 8964948 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0050817 Stargardt disease ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:18235024|PMID:30718709|PMID:8333273 8964948 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8964948 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:23885164|PMID:25741868|PMID:28492532 8964948 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0081022 retinal cone dystrophy 3B ISO RGD:1319524 D RGD:7240710 20180130 OMIM 8964948 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0081022 retinal cone dystrophy 3B ISO RGD:1319524 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES | ClinVar Annotator: match by term: Cone dystrophy with night blindness and supernormal rod responses KCNV2 related | ClinVar Annotator: match by term: KCNV2-related condition | ClinVar Annotator: match by term: Retinal cone dystrophy 3B | ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram PMID:16909397|PMID:17896311|PMID:18235024|PMID:18400204|PMID:19952985|PMID:21402906|PMID:21558291|PMID:21882291|PMID:21911584|PMID:22264887|PMID:23077521|PMID:23115240|PMID:23143909|PMID:23725738|PMID:23885164|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:31960170|PMID:33546218|PMID:35456422|PMID:8333273 8964948 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:25741868 8964948 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:630 genetic disease ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26992781|PMID:28492532|PMID:33090715 8964948 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:8501 fundus dystrophy ISO RGD:1319524 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16909397|PMID:17896311|PMID:18235024|PMID:18400204|PMID:21558291|PMID:21882291|PMID:21911584|PMID:23077521|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28041643|PMID:28492532|PMID:33309813|PMID:33546218 8964948 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:33546218 8964948 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:9006630 Stargardt Disease 1 ISO RGD:1319524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:18235024|PMID:30718709|PMID:8333273 8964948 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 gene DOID:9650 pathologic nystagmus ISO RGD:1319524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:17896311|PMID:18235024|PMID:18400204|PMID:21882291|PMID:21911584|PMID:23115240|PMID:23885164|PMID:25741868|PMID:28492532|PMID:33546218 8964952 Aadacl3 arylacetamide deacetylase like 3 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1602438 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8964952 Aadacl3 arylacetamide deacetylase like 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602438 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8964952 Aadacl3 arylacetamide deacetylase like 3 gene DOID:630 genetic disease ISO RGD:1602438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964960 Pth parathyroid hormone gene DOID:0050459 hyperphosphatemia ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23548309|REF_RGD_ID:7242565 8964960 Pth parathyroid hormone gene DOID:0050459 hyperphosphatemia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12399635 8964960 Pth parathyroid hormone gene DOID:0050459 hyperphosphatemia ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23211335|REF_RGD_ID:7242693 8964960 Pth parathyroid hormone gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:11186 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (mouse) PMID:19570882|REF_RGD_ID:7242924 8964960 Pth parathyroid hormone gene DOID:0060224 atrial fibrillation ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460043|REF_RGD_ID:7242420 8964960 Pth parathyroid hormone gene DOID:0080011 bone resorption disease ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9881647 8964960 Pth parathyroid hormone gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:69107 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:23470222|REF_RGD_ID:7242417 8964960 Pth parathyroid hormone gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:3440 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22581996|REF_RGD_ID:7242904 8964960 Pth parathyroid hormone gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:69107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:1302009|PMID:1425431|PMID:18784115|PMID:24033266|PMID:25741868|PMID:28492532 8964960 Pth parathyroid hormone gene DOID:1059 intellectual disability ISO RGD:69107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8964960 Pth parathyroid hormone gene DOID:10609 rickets ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10375030 8964960 Pth parathyroid hormone gene DOID:10754 otitis media ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23543299|REF_RGD_ID:7242409 8964960 Pth parathyroid hormone gene DOID:10763 hypertension ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1930854 8964960 Pth parathyroid hormone gene DOID:10763 hypertension ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460043|REF_RGD_ID:7242420 8964960 Pth parathyroid hormone gene DOID:11202 primary hyperparathyroidism ISO RGD:69107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary hyperparathyroidism PMID:1425431|PMID:18784115|PMID:25741868 8964960 Pth parathyroid hormone gene DOID:11476 osteoporosis ISO RGD:3440 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:22312238|REF_RGD_ID:7242907 8964960 Pth parathyroid hormone gene DOID:11476 osteoporosis ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15710971|PMID:17317460|PMID:17882678|PMID:19578808|PMID:21306167|PMID:30639440 8964960 Pth parathyroid hormone gene DOID:11476 osteoporosis treatment ISO RGD:3440 D RGD:9068941 20200609 RGD PMID:23161222|REF_RGD_ID:7242793 8964960 Pth parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23499504|REF_RGD_ID:7242414 8964960 Pth parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Uremia PMID:21335517|REF_RGD_ID:5135046 8964960 Pth parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21350317|PMID:22118402|PMID:22373954 8964960 Pth parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; DNA:snp:exon:g.350C>A (rs6256) (human) PMID:12046039|REF_RGD_ID:7242750 8964960 Pth parathyroid hormone gene DOID:12466 secondary hyperparathyroidism ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) PMID:23121374|REF_RGD_ID:7242728 8964960 Pth parathyroid hormone gene DOID:12466 secondary hyperparathyroidism treatment ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23529273|REF_RGD_ID:7242411 8964960 Pth parathyroid hormone gene DOID:12678 hypercalcemia ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23261531|REF_RGD_ID:7242689 8964960 Pth parathyroid hormone gene DOID:12678 hypercalcemia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10638776|PMID:12399635|PMID:17164314|PMID:4004906|PMID:7891547|PMID:9382671 8964960 Pth parathyroid hormone gene DOID:12679 nephrocalcinosis ISO RGD:3440 D RGD:9068941 20200609 RGD PMID:23344571|REF_RGD_ID:7242573 8964960 Pth parathyroid hormone gene DOID:13068 renal osteodystrophy ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) PMID:18480316|REF_RGD_ID:7242687 8964960 Pth parathyroid hormone gene DOID:205 hyperostosis ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25289773 8964960 Pth parathyroid hormone gene DOID:2355 anemia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15354979|PMID:19578808 8964960 Pth parathyroid hormone gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24803734 8964960 Pth parathyroid hormone gene DOID:3347 osteosarcoma ISO RGD:69107 D RGD:9068941 20200609 RGD human protein in rat model PMID:22688001|REF_RGD_ID:7242897 8964960 Pth parathyroid hormone gene DOID:3393 coronary artery disease ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460043|REF_RGD_ID:7242420 8964960 Pth parathyroid hormone gene DOID:4676 uremia ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (rat) PMID:22902873|REF_RGD_ID:7242742 8964960 Pth parathyroid hormone gene DOID:4676 uremia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2051637 8964960 Pth parathyroid hormone gene DOID:6000 congestive heart failure ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17162251 8964960 Pth parathyroid hormone gene DOID:6000 congestive heart failure ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21939825|REF_RGD_ID:7242422 8964960 Pth parathyroid hormone gene DOID:630 genetic disease ISO RGD:69107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964960 Pth parathyroid hormone gene DOID:783 end stage renal disease ISO RGD:3440 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23548814|REF_RGD_ID:7242564 8964960 Pth parathyroid hormone gene DOID:783 end stage renal disease severity ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23243213|REF_RGD_ID:7242692 8964960 Pth parathyroid hormone gene DOID:784 chronic kidney disease ISO RGD:3440 D RGD:9068941 20200609 RGD PMID:22517117|REF_RGD_ID:7242949 8964960 Pth parathyroid hormone gene DOID:784 chronic kidney disease ISO RGD:3440 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:21826734|REF_RGD_ID:7242935 8964960 Pth parathyroid hormone gene DOID:784 chronic kidney disease severity ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) PMID:23528898|REF_RGD_ID:7242412 8964960 Pth parathyroid hormone gene DOID:784 chronic kidney disease treatment ISO RGD:11186 D RGD:9068941 20200609 RGD PMID:23345625|REF_RGD_ID:7242572 8964960 Pth parathyroid hormone gene DOID:784 chronic kidney disease treatment ISO RGD:69107 D RGD:9068941 20200609 RGD PMID:23467111|REF_RGD_ID:7242418 8964960 Pth parathyroid hormone gene DOID:7998 hyperthyroidism ISO RGD:69107 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary hyperthyroidism PMID:1425431|PMID:18784115|PMID:25741868 8964960 Pth parathyroid hormone gene DOID:8929 atrophic gastritis ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23447517|REF_RGD_ID:7242421 8964960 Pth parathyroid hormone gene DOID:9000492 Familial Isolated Hypoparathyroidism 1 ISO RGD:69107 D RGD:7240710 20200520 OMIM 8964960 Pth parathyroid hormone gene DOID:9000492 Familial Isolated Hypoparathyroidism 1 ISO RGD:69107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated 1 PMID:10523031|PMID:18056632|PMID:2212001|PMID:24033266|PMID:25741868|PMID:28492532|PMID:3005800 8964960 Pth parathyroid hormone gene DOID:9001542 Albuminuria ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) PMID:23066118|REF_RGD_ID:7242730 8964960 Pth parathyroid hormone gene DOID:9001547 Tibial Fractures ISO RGD:69107 D RGD:9068941 20200609 RGD human protein in rat model PMID:23585311|REF_RGD_ID:7242790 8964960 Pth parathyroid hormone gene DOID:9001738 Hypercalciuria ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17164314 8964960 Pth parathyroid hormone gene DOID:9002165 Diabetic Nephropathies ISO RGD:69107 D RGD:9068941 20200609 RGD DNA:snps:exon, intron:g.350C>A, g.IVS2+56G>A (rs6256, rs6254) (human) PMID:22777106|REF_RGD_ID:7242744 8964960 Pth parathyroid hormone gene DOID:9002589 Bone Fractures ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16094769 8964960 Pth parathyroid hormone gene DOID:9002589 Bone Fractures ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) PMID:23043229|REF_RGD_ID:7242731 8964960 Pth parathyroid hormone gene DOID:9004331 Parathyroid Neoplasms ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23534747|REF_RGD_ID:7242410 8964960 Pth parathyroid hormone gene DOID:9004397 Calcification of Aortic Valve disease_progression ISO RGD:3440 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22634235|REF_RGD_ID:7242900 8964960 Pth parathyroid hormone gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) PMID:23168286|REF_RGD_ID:7242699 8964960 Pth parathyroid hormone gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:69107 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:22647434|REF_RGD_ID:7242899 8964960 Pth parathyroid hormone gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20567999 8964960 Pth parathyroid hormone gene DOID:9005354 Hypoparathyroidism, Autosomal Recessive ISO RGD:69107 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS2+1G>C (human) PMID:1302009|REF_RGD_ID:1598943 8964960 Pth parathyroid hormone gene DOID:9006205 Animal Disease Models ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30639440 8964960 Pth parathyroid hormone gene DOID:9006332 Vascular Calcification ISO RGD:3440 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic PMID:23486515|REF_RGD_ID:7242416 8964960 Pth parathyroid hormone gene DOID:9006332 Vascular Calcification disease_progression ISO RGD:3440 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22634235|REF_RGD_ID:7242900 8964960 Pth parathyroid hormone gene DOID:9006849 Phosphaturia ISO RGD:3440 D RGD:9068941 20200609 RGD protein:decreased expression:serum (rat) PMID:22859939|REF_RGD_ID:8655928 8964960 Pth parathyroid hormone gene DOID:9007096 Stroke ISO RGD:69107 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23460043|REF_RGD_ID:7242420 8964960 Pth parathyroid hormone gene DOID:9007819 Endocrine Bone Diseases ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18635661 8964960 Pth parathyroid hormone gene DOID:9009050 Hypocalcemia ISO RGD:69107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11701698|PMID:11770836 8964960 Pth parathyroid hormone gene DOID:9352 type 2 diabetes mellitus ISO RGD:69107 D RGD:9068941 20200609 RGD DNA:snp:exon:g.350C>A rs6256 (human) PMID:22777106|REF_RGD_ID:7242744 8964960 Pth parathyroid hormone gene DOID:9744 type 1 diabetes mellitus ISO RGD:69107 D RGD:9068941 20200609 RGD DNA:snp:exon:g.350C>A rs6256 (human) PMID:22777106|REF_RGD_ID:7242744 8964967 Thoc7 THO complex subunit 7 gene DOID:630 genetic disease ISO RGD:1602206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964982 Nmur1 neuromedin U receptor 1 gene DOID:0060476 Perlman syndrome ISO RGD:1348049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8964982 Nmur1 neuromedin U receptor 1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8964982 Nmur1 neuromedin U receptor 1 gene DOID:630 genetic disease ISO RGD:1348049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8964994 Kcng3 potassium voltage-gated channel modifier subfamily G member 3 gene DOID:3883 Lynch syndrome ISO RGD:735863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8964994 Kcng3 potassium voltage-gated channel modifier subfamily G member 3 gene DOID:630 genetic disease ISO RGD:735863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965003 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:1612 breast cancer disease_progression ISO RGD:1312142 D RGD:9068941 20200609 RGD PMID:16598187|REF_RGD_ID:2325661 8965003 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:1312142 D RGD:9068941 20200716 RGD protein:increased expression:pancreas PMID:19714807|REF_RGD_ID:2325658 8965003 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1312142 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:19609859|REF_RGD_ID:2325659 8965003 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8965003 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:630 genetic disease ISO RGD:1312142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965003 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:25237833 8965003 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1312142 D RGD:9068941 20200716 RGD protein:increased expression:pancreas PMID:19714807|REF_RGD_ID:2325658 8965003 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9005186 RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA ISO RGD:1312142 D RGD:7240710 20230517 OMIM 8965003 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9005186 RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA ISO RGD:1312142 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Respiratory infections, recurrent, and failure to thrive with or without diarrhea PMID:25741868|PMID:34952832 8965003 Agr2 anterior gradient 2, protein disulphide isomerase family member gene DOID:9008939 Breast Neoplasms ISO RGD:1312142 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531310 8965033 Smpdl3a sphingomyelin phosphodiesterase acid like 3A gene DOID:1826 epilepsy ISO RGD:1347939 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8965033 Smpdl3a sphingomyelin phosphodiesterase acid like 3A gene DOID:289 endometriosis ISO RGD:1347939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8965033 Smpdl3a sphingomyelin phosphodiesterase acid like 3A gene DOID:630 genetic disease ISO RGD:1347939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965048 LOC102029850 olfactory receptor 51B4 gene DOID:630 genetic disease ISO RGD:1344392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965051 Oat ornithine aminotransferase gene DOID:1415 gyrate atrophy ISO RGD:1350711 D RGD:7240710 20180130 OMIM 8965051 Oat ornithine aminotransferase gene DOID:1415 gyrate atrophy ISO RGD:1350711 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ornithine aminotransferase deficiency PMID:10617919|PMID:11297489|PMID:12221166|PMID:1301936|PMID:1427882|PMID:1487247|PMID:15750329|PMID:1609808|PMID:1612597|PMID:16151897|PMID:1618792|PMID:16199547|PMID:1737786|PMID:17576681|PMID:1992472|PMID:22182799|PMID:2220818|PMID:22674428|PMID:2276738|PMID:23076989|PMID:24082780|PMID:24429551|PMID:2492100|PMID:25640679|PMID:2565038|PMID:25741868|PMID:26259030|PMID:27037922|PMID:2793865|PMID:27978498|PMID:28181551|PMID:28341476|PMID:28388263|PMID:28468868|PMID:28492532|PMID:28559085|PMID:2916581|PMID:29654911|PMID:29757052|PMID:30366948|PMID:30957963|PMID:31456290|PMID:3170546|PMID:33090715|PMID:3339136|PMID:3375240|PMID:3417397|PMID:34395527|PMID:36909829|PMID:7668253|PMID:7887415|PMID:8125717|PMID:8281144|PMID:8430317|PMID:8670789|PMID:9536098 8965051 Oat ornithine aminotransferase gene DOID:5723 optic atrophy ISO RGD:1350711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 8965051 Oat ornithine aminotransferase gene DOID:630 genetic disease ISO RGD:1350711 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8965051 Oat ornithine aminotransferase gene DOID:8501 fundus dystrophy ISO RGD:1350711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:1609808|PMID:16199547|PMID:1737786|PMID:22674428|PMID:23076989|PMID:25741868|PMID:28492532|PMID:3339136 8965051 Oat ornithine aminotransferase gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1350711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 8965051 Oat ornithine aminotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8965051 Oat ornithine aminotransferase gene DOID:9007188 Liver Neoplasms ISO RGD:1350711 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 8965077 Plekhf2 pleckstrin homology and FYVE domain containing 2 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1323798 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 8965077 Plekhf2 pleckstrin homology and FYVE domain containing 2 gene DOID:630 genetic disease ISO RGD:1323798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965086 Cntn2 contactin 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:734311 D RGD:7240710 20180130 OMIM 8965086 Cntn2 contactin 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:11178983|PMID:16199547|PMID:17576681|PMID:23518707|PMID:25741868|PMID:28492532|PMID:9536098 8965086 Cntn2 contactin 2 gene DOID:12849 autistic disorder ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8965086 Cntn2 contactin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8965086 Cntn2 contactin 2 gene DOID:1826 epilepsy ISO RGD:734311 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8965086 Cntn2 contactin 2 gene DOID:3070 high grade glioma severity ISO RGD:734311 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain (human) PMID:11280781|REF_RGD_ID:734799 8965086 Cntn2 contactin 2 gene DOID:630 genetic disease ISO RGD:734311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8965086 Cntn2 contactin 2 gene DOID:850 lung disease ISO RGD:734311 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;mRNA:increased expression:bronchoalveolar lavage: PMID:24292748|REF_RGD_ID:36947872 8965086 Cntn2 contactin 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:734311 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8965086 Cntn2 contactin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8965113 Gas2l1 growth arrest specific 2 like 1 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1322543 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8965113 Gas2l1 growth arrest specific 2 like 1 gene DOID:630 genetic disease ISO RGD:1322543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965113 Gas2l1 growth arrest specific 2 like 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1322543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8965113 Gas2l1 growth arrest specific 2 like 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1322543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 8965128 Dnah14 dynein axonemal heavy chain 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1350731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8965128 Dnah14 dynein axonemal heavy chain 14 gene DOID:1826 epilepsy ISO RGD:1350731 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8965128 Dnah14 dynein axonemal heavy chain 14 gene DOID:630 genetic disease ISO RGD:1350731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965128 Dnah14 dynein axonemal heavy chain 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350731 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:35438214 8965128 Dnah14 dynein axonemal heavy chain 14 gene DOID:9008386 Hydrops Fetalis ISO RGD:1350731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 8965128 Dnah14 dynein axonemal heavy chain 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8965219 Bhlha9 basic helix-loop-helix family member a9 gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:2302834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 8965219 Bhlha9 basic helix-loop-helix family member a9 gene DOID:630 genetic disease ISO RGD:2302834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965219 Bhlha9 basic helix-loop-helix family member a9 gene DOID:9002310 Split-Hand/Foot Malformation with Long Bone Deficiency 3 ISO RGD:2302834 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome PMID:25741868 8965219 Bhlha9 basic helix-loop-helix family member a9 gene DOID:9002821 Bifid Femur with Monodactylous Ectrodactyly ISO RGD:2302834 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Gollop-Wolfgang complex PMID:25741868 8965219 Bhlha9 basic helix-loop-helix family member a9 gene DOID:9003579 Complex Camptosynpolydactyly ISO RGD:2302834 D RGD:7240710 20190315 OMIM 8965219 Bhlha9 basic helix-loop-helix family member a9 gene DOID:9003579 Complex Camptosynpolydactyly ISO RGD:2302834 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Camptosynpolydactyly, complex PMID:25741868|PMID:28492532 8965219 Bhlha9 basic helix-loop-helix family member a9 gene DOID:9005938 Mesoaxial Synostotic Syndactyly with Phalangeal Reduction ISO RGD:2302834 D RGD:7240710 20180130 OMIM 8965219 Bhlha9 basic helix-loop-helix family member a9 gene DOID:9005938 Mesoaxial Synostotic Syndactyly with Phalangeal Reduction ISO RGD:2302834 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction PMID:15039974|PMID:25466284|PMID:25741868|PMID:28492532|PMID:9783716 8965241 Cd68 CD68 molecule gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1314316 D RGD:9068941 20210226 RGD protein:increased expression:lymph node tumor (human) PMID:23557330|REF_RGD_ID:42721976 8965241 Cd68 CD68 molecule gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8965241 Cd68 CD68 molecule gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1314316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8965241 Cd68 CD68 molecule gene DOID:0080600 COVID-19 ISO RGD:1314316 D RGD:9068941 20200709 RGD mRNA:decreased expression:dendritic cells (human) PMID:32377375|REF_RGD_ID:32716422 8965241 Cd68 CD68 molecule gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1314316 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8965241 Cd68 CD68 molecule gene DOID:10533 viral pneumonia ISO RGD:1314317 D RGD:9068941 20210129 RGD mRNA:increased expression:lung,trachea (mouse) PMID:12581500|REF_RGD_ID:40925942 8965241 Cd68 CD68 molecule gene DOID:11429 endometriosis of pelvic peritoneum ISO RGD:1314316 D RGD:9068941 20210122 RGD protein:increased expression:peritoneum (human) PMID:19136478|REF_RGD_ID:40925932 8965241 Cd68 CD68 molecule gene DOID:12177 common variable immunodeficiency ISO RGD:1314316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8965241 Cd68 CD68 molecule gene DOID:13254 diverticulitis of colon severity ISO RGD:1314316 D RGD:9068941 20210129 RGD associated with steroid use;protein:increased expression:sigmoid colon (human) PMID:21553154|REF_RGD_ID:40925945 8965241 Cd68 CD68 molecule gene DOID:13619 extrahepatic cholestasis ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8965241 Cd68 CD68 molecule gene DOID:2018 hyperinsulinism ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8965241 Cd68 CD68 molecule gene DOID:2043 hepatitis B ISO RGD:1314316 D RGD:9068941 20210122 RGD associated with inflammation;protein:increased expression:liver (human) PMID:9699943|REF_RGD_ID:40925917 8965241 Cd68 CD68 molecule gene DOID:2729 dyskeratosis congenita ISO RGD:1314316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8965241 Cd68 CD68 molecule gene DOID:2938 Epstein-Barr virus infectious disease ISO RGD:1314316 D RGD:9068941 20210122 RGD associated with Hodgkin's Lymphoma;protein:increased expression:tumor (human) PMID:21602260|REF_RGD_ID:40925915 8965241 Cd68 CD68 molecule gene DOID:2938 Epstein-Barr virus infectious disease severity ISO RGD:1314316 D RGD:9068941 20210129 RGD associated with Hodgkin's Lymphoma;protein:increased expression:tumor(human) PMID:21071500|REF_RGD_ID:40925944 8965241 Cd68 CD68 molecule gene DOID:2945 severe acute respiratory syndrome ISO RGD:1314316 D RGD:9068941 20200609 RGD protein:increased expression:macrophage, testis (human) PMID:16237152|REF_RGD_ID:27372876 8965241 Cd68 CD68 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1314316 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8965241 Cd68 CD68 molecule gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1314316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8965241 Cd68 CD68 molecule gene DOID:326 ischemia ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 8965241 Cd68 CD68 molecule gene DOID:3965 Merkel cell carcinoma ISO RGD:1314316 D RGD:9068941 20210122 RGD protein:increased expression:tumor (human) PMID:22050913|REF_RGD_ID:40925916 8965241 Cd68 CD68 molecule gene DOID:526 human immunodeficiency virus infectious disease disease_progression ISO RGD:1314316 D RGD:9068941 20210129 RGD associated with opioid use;protein:increased expression:brain (human) PMID:22797933|REF_RGD_ID:41404655 8965241 Cd68 CD68 molecule gene DOID:630 genetic disease ISO RGD:1314316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965241 Cd68 CD68 molecule gene DOID:684 hepatocellular carcinoma severity ISO RGD:1314316 D RGD:9068941 20210122 RGD protein:increased expression:liver (human) PMID:28656201|REF_RGD_ID:40924686 8965241 Cd68 CD68 molecule gene DOID:783 end stage renal disease ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 8965241 Cd68 CD68 molecule gene DOID:8567 Hodgkin's lymphoma severity ISO RGD:1314316 D RGD:9068941 20210129 RGD associated with Epstein-Barr Virus Infections;protein:increased expression:tumor(human) PMID:21071500|REF_RGD_ID:40925944 8965241 Cd68 CD68 molecule gene DOID:8567 Hodgkin's lymphoma severity ISO RGD:1314316 D RGD:9068941 20210129 RGD protein:increased expression:tumor (human) PMID:23045593|REF_RGD_ID:40925946 8965241 Cd68 CD68 molecule gene DOID:9000099 Experimental Colitis treatment ISO RGD:1314317 D RGD:9068941 20210122 RGD PMID:25004394|REF_RGD_ID:40925931 8965241 Cd68 CD68 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8965241 Cd68 CD68 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8965241 Cd68 CD68 molecule gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388520 8965241 Cd68 CD68 molecule gene DOID:9007692 Insulin Resistance ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8965241 Cd68 CD68 molecule gene DOID:9008 psoriatic arthritis ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19732956 8965241 Cd68 CD68 molecule gene DOID:9009105 HIV Encephalitis ISO RGD:1314316 D RGD:9068941 20210129 RGD protein:increased expression:brain (human) PMID:15488024|REF_RGD_ID:40925943 8965241 Cd68 CD68 molecule gene DOID:9970 obesity ISO RGD:1314316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29035695 8965251 Tcf7 transcription factor 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8965251 Tcf7 transcription factor 7 gene DOID:10283 prostate cancer severity ISO RGD:1314197 D RGD:9068941 20200609 RGD PMID:28220803|REF_RGD_ID:13506820 8965251 Tcf7 transcription factor 7 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1314197 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 8965251 Tcf7 transcription factor 7 gene DOID:630 genetic disease ISO RGD:1314197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965251 Tcf7 transcription factor 7 gene DOID:8778 Crohn's disease ISO RGD:1314197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24994854 8965251 Tcf7 transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8965251 Tcf7 transcription factor 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314197 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8965251 Tcf7 transcription factor 7 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:0080074 neural tube defect ISO RGD:734121 D RGD:9068941 20200609 RGD PMID:11823447|REF_RGD_ID:734781 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:0110113 atrial heart septal defect 8 ISO RGD:734120 D RGD:7240710 20180130 OMIM 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:0110113 atrial heart septal defect 8 ISO RGD:734120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect 8 PMID:16287139|PMID:25741868 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:14566 disease of cellular proliferation ISO RGD:734120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21660965 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:1657 ventricular septal defect ISO RGD:734120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:1681 heart septal defect ISO RGD:734120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16287139 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:1682 congenital heart disease ISO RGD:734121 D RGD:9068941 20200609 RGD PMID:11823447|REF_RGD_ID:734781 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:2316 brain ischemia ISO RGD:620112 D RGD:9068941 20200609 RGD PMID:16434029|REF_RGD_ID:1581188 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:3347 osteosarcoma ISO RGD:620112 D RGD:9068941 20200609 RGD DNA:deletion (rat) PMID:19825367|REF_RGD_ID:5147850 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:630 genetic disease ISO RGD:734120 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:6419 tetralogy of Fallot ISO RGD:734121 D RGD:9068941 20220825 MouseDO OMIM:187500 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:767 muscular atrophy ISO RGD:734120 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19032942 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:9005639 Mandibular Fractures ISO RGD:620112 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone PMID:19607804|REF_RGD_ID:5147852 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:734120 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:9007054 Ventricular Septal Defect 2 ISO RGD:734120 D RGD:7240710 20180130 OMIM 8965290 Cited2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 gene DOID:9007054 Ventricular Septal Defect 2 ISO RGD:734120 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 2 PMID:16287139|PMID:25741868 8965296 Slc29a2 solute carrier family 29 member 2 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 8965296 Slc29a2 solute carrier family 29 member 2 gene DOID:1059 intellectual disability ISO RGD:733577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8965296 Slc29a2 solute carrier family 29 member 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8965296 Slc29a2 solute carrier family 29 member 2 gene DOID:2746 glycogen storage disease V ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8965296 Slc29a2 solute carrier family 29 member 2 gene DOID:630 genetic disease ISO RGD:733577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965296 Slc29a2 solute carrier family 29 member 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:733577 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8965296 Slc29a2 solute carrier family 29 member 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:733577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8965312 CUNH22orf15 chromosome unknown C22orf15 homolog gene DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ISO RGD:1349066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: FTDALS2 PMID:28492532 8965312 CUNH22orf15 chromosome unknown C22orf15 homolog gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1349066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 8965312 CUNH22orf15 chromosome unknown C22orf15 homolog gene DOID:0081356 spinal muscular atrophy, Jokela type ISO RGD:1349066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type PMID:28492532 8965312 CUNH22orf15 chromosome unknown C22orf15 homolog gene DOID:0081357 isolated mitochondrial myopathy ISO RGD:1349066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance PMID:28492532 8965312 CUNH22orf15 chromosome unknown C22orf15 homolog gene DOID:1826 epilepsy ISO RGD:1349066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8965312 CUNH22orf15 chromosome unknown C22orf15 homolog gene DOID:5419 schizophrenia ISO RGD:1349066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8965312 CUNH22orf15 chromosome unknown C22orf15 homolog gene DOID:630 genetic disease ISO RGD:1349066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965336 LOC102012974 ubiquinol-cytochrome-c reductase complex assembly factor 1 gene DOID:630 genetic disease ISO RGD:1345532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734091 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:25741868|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059|PMID:31422819 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:0080715 developmental and epileptic encephalopathy 82 ISO RGD:734091 D RGD:7240710 20200101 OMIM 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:0080715 developmental and epileptic encephalopathy 82 ISO RGD:734091 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 82 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82 PMID:25741868|PMID:28492532|PMID:31422819 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734091 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:25741868|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059|PMID:31422819 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:1289 neurodegenerative disease ISO RGD:2722 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (rat) PMID:26631339|REF_RGD_ID:11352733 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:3021 acute kidney failure ISO RGD:2722 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:23924727|REF_RGD_ID:13506245 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:5419 schizophrenia ISO RGD:2722 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:23942359|REF_RGD_ID:11571618 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:630 genetic disease ISO RGD:734091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2722 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:27150525|REF_RGD_ID:13506243 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:9004283 Transplant Rejection treatment ISO RGD:2722 D RGD:9068941 20200609 RGD PMID:28596681|REF_RGD_ID:13504864 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:2722 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:19823174|REF_RGD_ID:4145499 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:9007956 Febrile Seizures ISO RGD:2722 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:24373994|REF_RGD_ID:13504853 8965356 Got2 glutamic-oxaloacetic transaminase 2 gene DOID:9970 obesity ISO RGD:2722 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle tissue, T-tubule (rat) PMID:23743348|REF_RGD_ID:11041118 8965369 Uhrf2 ubiquitin like with PHD and ring finger domains 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1320632 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8965369 Uhrf2 ubiquitin like with PHD and ring finger domains 2 gene DOID:630 genetic disease ISO RGD:1320632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:0070380 developmental and epileptic encephalopathy 85 ISO RGD:737070 D RGD:7240710 20200429 OMIM 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:0070380 developmental and epileptic encephalopathy 85 ISO RGD:737070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 85, with or without midline brain defects PMID:17273969|PMID:19701948|PMID:25741868|PMID:26358754|PMID:26386245|PMID:26752331|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:30158690|PMID:31334757 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:737070 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:737070 D RGD:7240710 20190315 OMIM 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:737070 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 | ClinVar Annotator: match by term: SMC1A-related cohesinopathy PMID:11532960|PMID:11877377|PMID:16199547|PMID:16273072|PMID:16604071|PMID:17221863|PMID:17273969|PMID:17576681|PMID:18414213|PMID:18996922|PMID:19052029|PMID:19701948|PMID:19842212|PMID:20358602|PMID:20635401|PMID:22106055|PMID:22140011|PMID:23551878|PMID:23683030|PMID:24088041|PMID:24124034|PMID:24461912|PMID:24756084|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25574841|PMID:25741868|PMID:26354354|PMID:26358754|PMID:26386245|PMID:26467025|PMID:26633545|PMID:26752331|PMID:27159028|PMID:27171548|PMID:27334371|PMID:28166369|PMID:28425213|PMID:28492532|PMID:28548707|PMID:28826797|PMID:28924389|PMID:30008475|PMID:30158690|PMID:30847515|PMID:30871455|PMID:31098032|PMID:31157197|PMID:31334757|PMID:31602316|PMID:31785789|PMID:32238909|PMID:33619735|PMID:9536098 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:0080721 calvarial doughnut lesions with bone fragility ISO RGD:737070 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: CDL PMID:18414213 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 PMID:19052029|PMID:23683030|PMID:26059843|PMID:28492532 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:1059 intellectual disability ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:10907 microcephaly ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:16604071|PMID:17273969|PMID:24124034|PMID:25125236|PMID:25741868|PMID:28425213|PMID:28492532 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:11054 urinary bladder cancer ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121791 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:11725 Cornelia de Lange syndrome ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:12849 autistic disorder ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:1826 epilepsy ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:6000 congestive heart failure disease_progression ISO RGD:737070 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:607 paraplegia ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:630 genetic disease ISO RGD:737070 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11532960|PMID:16604071|PMID:17273969|PMID:17576681|PMID:18414213|PMID:19701948|PMID:20635401|PMID:23551878|PMID:24124034|PMID:24756084|PMID:25125236|PMID:25356970|PMID:25741868|PMID:26358754|PMID:26386245|PMID:26467025|PMID:27159028|PMID:27334371|PMID:28425213|PMID:28492532|PMID:33619735|PMID:9536098 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:8692 myeloid leukemia ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:9001510 Funnel Chest ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:9001793 Generalized Epilepsy ISO RGD:737070 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:9002112 Wiedemann-Steiner syndrome ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome PMID:25574841 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:9004603 Atkin Syndrome ISO RGD:737070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:19052029|PMID:23683030|PMID:26059843|PMID:28492532 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:9006534 Nervous System Malformations ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:9008086 Developmental Disabilities ISO RGD:737070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8965390 Smc1a structural maintenance of chromosomes 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:61991 D RGD:9068941 20221027 RGD mRNA:increased expression:testis: PMID:33775663|REF_RGD_ID:155631260 8965423 P2rx3 purinergic receptor P2X 3 gene DOID:1059 intellectual disability ISO RGD:735321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8965423 P2rx3 purinergic receptor P2X 3 gene DOID:630 genetic disease ISO RGD:735321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965423 P2rx3 purinergic receptor P2X 3 gene DOID:9002211 Hyperalgesia ISO RGD:735321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19383439 8965423 P2rx3 purinergic receptor P2X 3 gene DOID:9006062 Nervous System Trauma ISO RGD:735321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24136739 8965456 Frey1 Frey regulator of sperm-oocyte fusion 1 gene DOID:0050444 infantile Refsum disease ISO RGD:3543119 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8965456 Frey1 Frey regulator of sperm-oocyte fusion 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:3543119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8965456 Frey1 Frey regulator of sperm-oocyte fusion 1 gene DOID:1059 intellectual disability ISO RGD:3543119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8965456 Frey1 Frey regulator of sperm-oocyte fusion 1 gene DOID:905 Zellweger syndrome ISO RGD:3543119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 8965471 Lrrc61 leucine rich repeat containing 61 gene DOID:630 genetic disease ISO RGD:1602102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0050754 ataxia with oculomotor apraxia type 1 ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia PMID:16199547|PMID:20118933|PMID:24033266|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31167812|PMID:32504494 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1344743 D RGD:7240710 20180130 OMIM 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1344743 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay PMID:10446192|PMID:11704758|PMID:15136689|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22508754|PMID:23224214|PMID:23708187|PMID:23833122|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:31167812|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32504494|PMID:32980744|PMID:33654647|PMID:34009545|PMID:34040816|PMID:35354845|PMID:9536098 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1344743 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:10446192|PMID:10446193|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15385968|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:20852255|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:23833122|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066567|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28453785|PMID:28492532|PMID:29056246|PMID:29243230|PMID:29261713|PMID:29498415|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31041400|PMID:31061747|PMID:31167812|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32504494|PMID:32980744|PMID:33654647|PMID:34009545|PMID:34040816|PMID:35354845|PMID:9536098 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1344743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0081383 ataxia-oculomotor apraxia type 4 ISO RGD:1344743 D RGD:7240710 20180130 OMIM 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0081383 ataxia-oculomotor apraxia type 4 ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 PMID:10446192|PMID:11704758|PMID:15136689|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22508754|PMID:23224214|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:27125728|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32347949|PMID:33654647|PMID:9536098 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0081383 ataxia-oculomotor apraxia type 4 ISO RGD:1344743 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 PMID:10446192|PMID:11704758|PMID:15136689|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22508754|PMID:23224214|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:27125728|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32980744|PMID:33654647|PMID:34040816|PMID:35354845|PMID:9536098 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1344743 D RGD:7240710 20200520 OMIM 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:0110179 Charcot-Marie-Tooth disease type 2B2 ISO RGD:1344743 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 PMID:10446192|PMID:10446193|PMID:11112660|PMID:15385968|PMID:15749016|PMID:16199547|PMID:18414213|PMID:20118933|PMID:20852255|PMID:23833122|PMID:24033266|PMID:25728773|PMID:25741868|PMID:26467025|PMID:27066567|PMID:28453785|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:33654647|PMID:34009545 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:1059 intellectual disability ISO RGD:1344743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20118933|PMID:22508754|PMID:23224214|PMID:25558065|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31436889|PMID:31707899 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:10907 microcephaly ISO RGD:1344743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118933 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:1826 epilepsy ISO RGD:1344743 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:630 genetic disease ISO RGD:1344743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446192|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15749016|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28492532|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32347949|PMID:33654647 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:630 genetic disease ISO RGD:1344743 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10446192|PMID:10446193|PMID:11112660|PMID:11704758|PMID:15136689|PMID:15381417|PMID:15385968|PMID:15749016|PMID:16199547|PMID:17576681|PMID:18005052|PMID:18266750|PMID:18414213|PMID:18678442|PMID:18845387|PMID:20118933|PMID:20852255|PMID:21307862|PMID:21560189|PMID:22055185|PMID:22508754|PMID:23224214|PMID:23708187|PMID:23833122|PMID:24033266|PMID:24938145|PMID:25558065|PMID:25728773|PMID:25741868|PMID:26467025|PMID:26993267|PMID:27066586|PMID:27125728|PMID:27232581|PMID:27890643|PMID:28453785|PMID:28492532|PMID:29056246|PMID:29261713|PMID:29652299|PMID:29655203|PMID:29720203|PMID:29924869|PMID:30039206|PMID:31061747|PMID:31436889|PMID:31707899|PMID:32010037|PMID:32056211|PMID:32347949|PMID:32980744|PMID:33654647|PMID:34009545|PMID:34040816|PMID:35354845|PMID:9536098 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1344743 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:11112660|PMID:15749016|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29261713|PMID:29655203|PMID:29720203|PMID:30039206|PMID:31061747|PMID:33654647 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9001793 Generalized Epilepsy ISO RGD:1344743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:18414213|PMID:25741868|PMID:28492532 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9006534 Nervous System Malformations ISO RGD:1344743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20118933|PMID:22508754|PMID:23224214|PMID:25558065|PMID:25728773|PMID:25741868|PMID:28492532|PMID:31436889|PMID:31707899|PMID:32056211 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9008086 Developmental Disabilities ISO RGD:1344743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 8965483 Pnkp polynucleotide kinase 3'-phosphatase gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1344743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118933 8965498 Fndc3a fibronectin type III domain containing 3A gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8965498 Fndc3a fibronectin type III domain containing 3A gene DOID:1059 intellectual disability ISO RGD:1354235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8965498 Fndc3a fibronectin type III domain containing 3A gene DOID:630 genetic disease ISO RGD:1354235 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1601958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NAFLD1 | ClinVar Annotator: match by term: Susceptibility to Nonalcoholic Fatty Liver Disease PMID:18820647|PMID:21381068|PMID:24033266|PMID:24917523|PMID:25290313|PMID:26200108|PMID:27288299|PMID:28073161|PMID:28492532|PMID:29158695 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:1601958 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:26740948|REF_RGD_ID:13463463 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1601958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1601958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19946271|PMID:26482880 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:1459 hypothyroidism treatment ISO RGD:1595843 D RGD:9068941 20200609 RGD PMID:19619606|REF_RGD_ID:14985223 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:3393 coronary artery disease ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human) PMID:31377187|REF_RGD_ID:14981594 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:5082 liver cirrhosis ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with non-alcoholic fatty liver disease:DNA:SNP: :rs738409 (p.I148M) (human) PMID:20648474|REF_RGD_ID:14981584 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:29674183|REF_RGD_ID:14981591 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:5082 liver cirrhosis severity ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs738409 (p.I148M) (human) PMID:31377187|REF_RGD_ID:14981594 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:630 genetic disease ISO RGD:1601958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:21319195|REF_RGD_ID:14981585 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1601958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19946271 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1601958 D RGD:9068941 20200609 RGD DNA:SNP: :rs738409 (p.I148M) (human) PMID:31377187|REF_RGD_ID:14981594 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:9452 steatotic liver disease ISO RGD:1601958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25678388 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:9452 steatotic liver disease ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:25284145|REF_RGD_ID:14981590 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:9452 steatotic liver disease ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:21319195|REF_RGD_ID:14981585 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:9452 steatotic liver disease ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Wilson disease;DNA:SNP: :rs738409 (p.I148M) (human) PMID:25678388|REF_RGD_ID:11055420 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:9452 steatotic liver disease severity ISO RGD:1601958 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP: :rs738409 (p.I148M) (human) PMID:23564580|REF_RGD_ID:14981583 8965540 Pnpla3 patatin like phospholipase domain containing 3 gene DOID:9970 obesity ISO RGD:1595843 D RGD:9068941 20200609 RGD PMID:11431482|REF_RGD_ID:14985224 8965566 Dynlt2 dynein light chain Tctex-type 2 gene DOID:630 genetic disease ISO RGD:1322136 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965590 Fnip1 folliculin interacting protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8965590 Fnip1 folliculin interacting protein 1 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1606476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 8965590 Fnip1 folliculin interacting protein 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8965590 Fnip1 folliculin interacting protein 1 gene DOID:5419 schizophrenia ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8965590 Fnip1 folliculin interacting protein 1 gene DOID:630 genetic disease ISO RGD:1606476 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8965590 Fnip1 folliculin interacting protein 1 gene DOID:9001635 Immunodeficiency 93 ISO RGD:1606476 D RGD:7240710 20220202 OMIM 8965590 Fnip1 folliculin interacting protein 1 gene DOID:9001635 Immunodeficiency 93 ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy PMID:32181500|PMID:32905580 8965590 Fnip1 folliculin interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606476 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8965590 Fnip1 folliculin interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606476 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:0050741 alcohol dependence ISO RGD:69020 D RGD:9068941 20231116 RGD DNA:SNP: :140G>C PMID:19060480|REF_RGD_ID:401900293 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:0050741 alcohol dependence ISO RGD:69020 D RGD:9068941 20231116 RGD mRNA:increased expression:Brodmann (1909) area 9 PMID:22176604|REF_RGD_ID:401900608 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:0060001 withdrawal disorder ISO RGD:69020 D RGD:9068941 20231116 RGD associated with alcohol dependence;DNA:SNP: :140G>C PMID:19060480|REF_RGD_ID:401900293 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:10652 Alzheimer's disease ISO RGD:69020 D RGD:9068941 20200609 RGD PMID:20508993|REF_RGD_ID:5683632 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:14330 Parkinson's disease ISO RGD:2845 D RGD:9068941 20200609 RGD PMID:20508280|REF_RGD_ID:5683633 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:1574 alcohol use disorder treatment ISO RGD:2845 D RGD:9068941 20231123 RGD PMID:9631953|REF_RGD_ID:401900760 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:1596 depressive disorder ISO RGD:69020 D RGD:9068941 20200609 RGD PMID:10578452|PMID:21512427|REF_RGD_ID:5683629|REF_RGD_ID:5683634 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:2030 anxiety disorder ISO RGD:10745 D RGD:9068941 20220825 MouseDO OMIM:607834 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:2030 anxiety disorder ISO RGD:69020 D RGD:9068941 20200609 RGD PMID:21512427|REF_RGD_ID:5683629 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:594 panic disorder ISO RGD:2845 D RGD:9068941 20200609 RGD PMID:21421022|REF_RGD_ID:5683630 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:594 panic disorder ISO RGD:69020 D RGD:9068941 20200609 RGD PMID:20817074|REF_RGD_ID:5683631 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:630 genetic disease ISO RGD:69020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:809 cocaine abuse ISO RGD:2845 D RGD:9068941 20231116 RGD protein:decreased expression:dentate gyrus, hypothalamus PMID:9723786|REF_RGD_ID:401900605 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:8646 substance-induced psychosis ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747927 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:8927 learning disability ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12591222 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9000217 Stomach Neoplasms ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21447133 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9000495 Tremor ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11070179 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9000641 Pain ISO RGD:10745 D RGD:9068941 20200609 RGD PMID:21945716|REF_RGD_ID:5683627 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9000641 Pain ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12595749 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9000972 Fever ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21990073 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9003805 Catalepsy ISO RGD:2845 D RGD:9068941 20200609 RGD PMID:20508280|REF_RGD_ID:5683633 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9004992 Apnea ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10640309 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11853856 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9007001 Bradycardia ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2207497 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9008023 Memory Disorders ISO RGD:69020 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12591222 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2845 D RGD:9068941 20200609 RGD PMID:21352823|REF_RGD_ID:5683628 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9008802 Periodic Fever, Menstrual Cycle-Dependent ISO RGD:69020 D RGD:7240710 20180130 OMIM 8965628 Htr1a 5-hydroxytryptamine receptor 1A gene DOID:9008802 Periodic Fever, Menstrual Cycle-Dependent ISO RGD:69020 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Menstrual cycle-dependent periodic fever PMID:21990073|PMID:25741868 8965634 Zc3h6 zinc finger CCCH-type containing 6 gene DOID:630 genetic disease ISO RGD:1322317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965659 Gmpr guanosine monophosphate reductase gene DOID:630 genetic disease ISO RGD:733310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965659 Gmpr guanosine monophosphate reductase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8965675 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1601776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 8965675 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:1574 alcohol use disorder severity ISO RGD:1601776 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:17697868|REF_RGD_ID:10043133 8965675 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1601776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8965675 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:3070 high grade glioma treatment ISO RGD:3676 D RGD:9068941 20200609 RGD PMID:11559557|REF_RGD_ID:10043143 8965675 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1601776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965675 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736316 D RGD:9068941 20200609 RGD protein:increased activity:liver: PMID:9331085|REF_RGD_ID:10043141 8965675 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:9008691 Liver Injury ISO RGD:736316 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:19046688|REF_RGD_ID:10043142 8965675 St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1601776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21874001 8965695 Rab30 RAB30, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1319882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8965695 Rab30 RAB30, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1319882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965695 Rab30 RAB30, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8965720 Wasf3 WASP family member 3 gene DOID:630 genetic disease ISO RGD:1346468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965720 Wasf3 WASP family member 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1346468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8965720 Wasf3 WASP family member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8965741 Nptx2 neuronal pentraxin 2 gene DOID:0060001 withdrawal disorder ISO RGD:1319794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19084905 8965741 Nptx2 neuronal pentraxin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8965741 Nptx2 neuronal pentraxin 2 gene DOID:630 genetic disease ISO RGD:1319794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965756 Zdhhc6 zinc finger DHHC-type palmitoyltransferase 6 gene DOID:630 genetic disease ISO RGD:1312223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965782 Dcun1d2 defective in cullin neddylation 1 domain containing 2 gene DOID:2222 factor X deficiency ISO RGD:1323358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8965782 Dcun1d2 defective in cullin neddylation 1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1323358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965782 Dcun1d2 defective in cullin neddylation 1 domain containing 2 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1323358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 8965806 Sp8 Sp8 transcription factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8965806 Sp8 Sp8 transcription factor gene DOID:630 genetic disease ISO RGD:1316919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965813 Linc02915 long intergenic non-protein coding RNA 2915 gene DOID:2717 Bloom syndrome ISO RGD:1601683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8965813 Linc02915 long intergenic non-protein coding RNA 2915 gene DOID:9256 colorectal cancer ISO RGD:1601683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8965817 Camk1 calcium/calmodulin dependent protein kinase I gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 8965817 Camk1 calcium/calmodulin dependent protein kinase I gene DOID:2843 long QT syndrome ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8965817 Camk1 calcium/calmodulin dependent protein kinase I gene DOID:630 genetic disease ISO RGD:731618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965817 Camk1 calcium/calmodulin dependent protein kinase I gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8965817 Camk1 calcium/calmodulin dependent protein kinase I gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:731618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8965842 Mkln1 muskelin 1 gene DOID:2722 acrodermatitis ISO RGD:12082382 D RGD:9068941 20230824 OMIA Acrodermatitis, lethal PMID:10563006|PMID:11105789|PMID:11440398|PMID:14592736|PMID:17693109|PMID:2402865|PMID:29565995|PMID:3710872|PMID:37582787|PMID:8981276|PMID:9256960 8965842 Mkln1 muskelin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734391 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8965842 Mkln1 muskelin 1 gene DOID:630 genetic disease ISO RGD:734391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965871 Pxk PX domain containing serine/threonine kinase like gene DOID:630 genetic disease ISO RGD:1348394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965871 Pxk PX domain containing serine/threonine kinase like gene DOID:7148 rheumatoid arthritis ISO RGD:1348394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842 8965871 Pxk PX domain containing serine/threonine kinase like gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1348394 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8965871 Pxk PX domain containing serine/threonine kinase like gene DOID:9074 systemic lupus erythematosus ISO RGD:1348394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18204446 8965913 Npbwr2 neuropeptides B and W receptor 2 gene DOID:630 genetic disease ISO RGD:1349448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965918 Cdpf1 cysteine rich DPF motif domain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8965918 Cdpf1 cysteine rich DPF motif domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1604737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8965918 Cdpf1 cysteine rich DPF motif domain containing 1 gene DOID:630 genetic disease ISO RGD:1604737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965932 Ccser1 coiled-coil serine rich protein 1 gene DOID:13938 amenorrhea ISO RGD:1602258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8965932 Ccser1 coiled-coil serine rich protein 1 gene DOID:630 genetic disease ISO RGD:1602258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965932 Ccser1 coiled-coil serine rich protein 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1602258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8965932 Ccser1 coiled-coil serine rich protein 1 gene DOID:9975 cocaine dependence susceptibility ISO RGD:1602258 D RGD:9068941 20231102 RGD DNA:SNP:: (rs1381355) (human) PMID:18438686|REF_RGD_ID:401851917 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050451 Brugada syndrome ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25351510|PMID:25741868|PMID:27871843|PMID:28492532|PMID:29255176 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050650 familial atrial fibrillation ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:17470695|PMID:17576681|PMID:19716085|PMID:19841300|PMID:21185501|PMID:22199116|PMID:22378279|PMID:22581653|PMID:22949429|PMID:23571586|PMID:24033266|PMID:24190995|PMID:24440382|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25854863|PMID:25985138|PMID:26159999|PMID:26318259|PMID:28492532|PMID:28988457|PMID:29197658|PMID:30615648|PMID:31696929|PMID:31737537|PMID:32553227|PMID:34398675|PMID:37449562|PMID:9536098 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050700 cardiomyopathy ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:14661677|PMID:14678125|PMID:16556865|PMID:17161064|PMID:17210839|PMID:17470695|PMID:19841300|PMID:19862833|PMID:21185501|PMID:22581653|PMID:22677073|PMID:22949429|PMID:23571586|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:28492532 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0050793 short QT syndrome ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:11278406|PMID:15051636|PMID:15159330|PMID:17470695|PMID:17576681|PMID:19716085|PMID:19841300|PMID:20436212|PMID:21185501|PMID:22199116|PMID:22378279|PMID:22581653|PMID:22949429|PMID:23571586|PMID:24033266|PMID:24190995|PMID:24440382|PMID:25637381|PMID:25649125|PMID:25741868|PMID:25854863|PMID:25985138|PMID:26159999|PMID:26318259|PMID:28492532|PMID:28988457|PMID:29197658|PMID:30615648|PMID:31696929|PMID:31737537|PMID:32553227|PMID:34398675|PMID:37449562|PMID:9536098 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0060224 atrial fibrillation ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:12522251|PMID:15368194|PMID:16109388|PMID:17467630|PMID:17997361|PMID:17999538|PMID:18599533|PMID:19632626|PMID:20421371|PMID:21224508|PMID:22250012|PMID:22508963|PMID:22581653|PMID:23375927|PMID:24006450|PMID:24818999|PMID:25444851|PMID:25974115|PMID:28383569|PMID:28492532 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0070297 primary microcephaly ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:15781747|PMID:15840476|PMID:19716085|PMID:1984130|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:2654361|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099|PMID:32893267|PMID:34135346|PMID:34404389|PMID:34798354|PMID:35352813|PMID:36102233 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0080600 COVID-19 ISO RGD:1353354 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1353354 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:1000359|PMID:10024302|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10654932|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12442296|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17224687|PMID:17292394|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17905336|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19008479|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19684871|PMID:19693805|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:1984130|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20960614|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22373669|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23400408|PMID:234416|PMID:234478|PMID:234515|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24080067|PMID:24096004|PMID:24144883 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24573873|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25467552|PMID:25471708|PMID:25525159|PMID:25554238|PMID:25559286|PMID:25608792|PMID:25634836|PMID:25637381|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:2654361|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26681611|PMID:26715165|PMID:26743238|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:280141|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28364778|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28600177|PMID:28600387|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29672598|PMID:29677589|PMID:29684900|PMID:29740400|PMID:29790872|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30036649|PMID:30079003|PMID:30122538|PMID:30219255|PMID:30291343|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30686478|PMID:30755392|PMID:30847666|PMID:30919684|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31114860|PMID:31226583|PMID:31229680|PMID:31246743|PMID:31315195|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31520628|PMID:31521807|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32009526|PMID:32015334|PMID:32048431|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32298319|PMID:32383558|PMID:32421437|PMID:32470535|PMID:32508908|PMID:32553227|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32901917|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33504163|PMID:33600800|PMID:33614747|PMID:33664273|PMID:33693037|PMID:33777698|PMID:33876311|PMID:33900377|PMID:34135346|PMID:34165182|PMID:34319147|PMID:34333030|PMID:34389451|PMID:34395343|PMID:34398675|PMID:34404389|PMID:34411974|PMID:34426522|PMID:34428338|PMID:34495297 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:34505893|PMID:34691145|PMID:34697415|PMID:34798354|PMID:34860437|PMID:34884666|PMID:34930020|PMID:35352813|PMID:35442947|PMID:35535697|PMID:35703482|PMID:35911527|PMID:36102233|PMID:36197721|PMID:36505078|PMID:36674868|PMID:36806574|PMID:36898499|PMID:37449562|PMID:37457655|PMID:737968|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110644 long QT syndrome 1 susceptibility ISO RGD:1353354 D RGD:7240710 20240308 OMIM 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0110645 long QT syndrome 2 ISO RGD:1353354 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10477533|PMID:10973849|PMID:17576681|PMID:19716085|PMID:21810471|PMID:22629021|PMID:25741868|PMID:27485560|PMID:28492532|PMID:29255176|PMID:29857160|PMID:31589614|PMID:31737537|PMID:9536098|PMID:9570196|PMID:9654228 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:10763 hypertension ISO RGD:621503 D RGD:9068941 20200609 RGD DNA:deletion:exon (rat) PMID:16368876|REF_RGD_ID:1581602 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:10907 microcephaly ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:15781747|PMID:15840476|PMID:19716085|PMID:1984130|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:2654361|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099|PMID:32893267|PMID:34135346|PMID:34404389|PMID:34798354|PMID:35352813|PMID:36102233 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19716085|PMID:22581653|PMID:23396983|PMID:24033266|PMID:24055113|PMID:25351510|PMID:25637381|PMID:25741868|PMID:26332594|PMID:28492532|PMID:28794082|PMID:29197658|PMID:30571187|PMID:36293497 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29876285|PMID:29922582|PMID:30122538|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31043699|PMID:31114860|PMID:31226583|PMID:31427586|PMID:31447099|PMID:31521807|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32695137|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33664273|PMID:33693037|PMID:33777698|PMID:34135346|PMID:34333030|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34697415|PMID:35442947|PMID:36806574|PMID:8487283|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9781056|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:10024302|PMID:10077519|PMID:10090886|PMID:10367071|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12402336|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16818214|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19490272|PMID:19590188|PMID:19632626|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:1984130|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:19959132|PMID:20044973|PMID:20167303|PMID:20226272|PMID:20348026|PMID:20421371|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21063070|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23139254|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23350853|PMID:23392653|PMID:23396983|PMID:23400408|PMID:234515|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24284363|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24689698|PMID:24762593|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25351510|PMID:25447171|PMID:25453094|PMID:25471708|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25956966|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26228265|PMID:26318259|PMID:26344792|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:2654361|PMID:26546361|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26937405|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27816319|PMID:27831900|PMID:27871843|PMID:27884173|PMID:27920829|PMID:28212739|PMID:28302345|PMID:28360401|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28944242|PMID:28988457|PMID:29033053 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome | ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 | ClinVar Annotator: match by term: Jervell-Lange Nielsen syndrome | ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:29037160|PMID:29097701|PMID:29197658|PMID:29247119|PMID:29255176|PMID:29372044|PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29876285|PMID:29922582|PMID:30122538|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31043699|PMID:31114860|PMID:31226583|PMID:31246743|PMID:31427586|PMID:31447099|PMID:31520628|PMID:31521807|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32553227|PMID:32686758|PMID:32695137|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33664273|PMID:33693037|PMID:33777698|PMID:34135346|PMID:34165182|PMID:34333030|PMID:34398675|PMID:34404389|PMID:34426522|PMID:34428338|PMID:34495297|PMID:34505893|PMID:34697415|PMID:34798354|PMID:34860437|PMID:34930020|PMID:35352813|PMID:35442947|PMID:35703482|PMID:36102233|PMID:36806574|PMID:36898499|PMID:37449562|PMID:37457655|PMID:37589201|PMID:8487283|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9781056|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2842 Jervell-Lange Nielsen syndrome susceptibility ISO RGD:1353354 D RGD:7240710 20240308 OMIM 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20421371|PMID:20436212|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:2313012|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23271449|PMID:23304551|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23728945|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25494010|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27332903|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28166811|PMID:28212739|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28360401|PMID:28364778|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29439887|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29672598|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30079003|PMID:30122538|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31337358|PMID:31447099|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32686758|PMID:32917565|PMID:32936022|PMID:33087929|PMID:34135346|PMID:34333030|PMID:34398675|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20960614|PMID:20975234|PMID:20981092|PMID:21059661|PMID:21063070|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:2313012|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23271449|PMID:23304551|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25163546|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27332903|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28166811|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29247119|PMID:29255176|PMID:29372044|PMID:29379719|PMID:29439887|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30122538|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31226583|PMID:31337358|PMID:31447099|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32686758|PMID:32917565|PMID:32936022|PMID:33087929|PMID:34135346|PMID:34333030|PMID:34398675|PMID:35535697|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14576198|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16039274|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16542208|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18398469|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19008479|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:19996378|PMID:20031635|PMID:20040519|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20436212|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22354620|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:2313012|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23989646|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24080067|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25174857|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28166811|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28575668|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29420653|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30170673|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30327538|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31078652|PMID:31226583|PMID:31315195|PMID:31337358|PMID:31395126|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31535183|PMID:31565860|PMID:31589614 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32508908|PMID:32600061|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33095155|PMID:33141630|PMID:33181513|PMID:33256261|PMID:33309763|PMID:33498651|PMID:33574382|PMID:33600800|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34319147|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34697415|PMID:34884666|PMID:34930020|PMID:35535697|PMID:36197721|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14576198|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16039274|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16542208|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17292394|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18398469|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19008479|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19684871|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:1984130|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:19996378|PMID:20031635|PMID:20040519|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20436212|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22354620|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:31226583|PMID:31315195|PMID:31337358|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31521807|PMID:31535183|PMID:31565860|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32470535|PMID:32508908|PMID:32600061|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33095155|PMID:33141630|PMID:33181513|PMID:33256261|PMID:33309763|PMID:33484326|PMID:33498651|PMID:33574382|PMID:33600800|PMID:33614747|PMID:33664273|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34319147|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34884666|PMID:34930020|PMID:35442947|PMID:35535697|PMID:36102233|PMID:36197721|PMID:36806574|PMID:37086329|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:2313012|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23989646|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24080067|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25174857|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25554238|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:2654361|PMID:26546361|PMID:26594346|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29420653|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30170673|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30327538|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30755392|PMID:30758498|PMID:30816480|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31078652|PMID:31114860 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12442296|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14576198|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16039274|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16542208|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17292394|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18398469|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19008479|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19684871|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:1984130|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:19996378|PMID:20031635|PMID:20040519|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20436212|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22354620|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:2313012|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23989646|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24080067|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25174857|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25554238|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:2654361|PMID:26546361|PMID:26594346|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29420653|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30170673|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30327538|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30755392|PMID:30758498|PMID:30816480|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:31078652|PMID:31114860|PMID:31226583|PMID:31315195|PMID:31337358|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31521807|PMID:31535183|PMID:31565860|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32470535|PMID:32508908|PMID:32600061|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33095155|PMID:33141630|PMID:33181513|PMID:33256261|PMID:33309763|PMID:33484326|PMID:33498651|PMID:33574382|PMID:33600800|PMID:33614747|PMID:33664273|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34319147|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34798354|PMID:34860437|PMID:34884666|PMID:34930020|PMID:35442947|PMID:35535697|PMID:36102233|PMID:36197721|PMID:36806574|PMID:37086329|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12442296|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14576198|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16039274|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16542208|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17292394|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18398469|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19008479|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19684871|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:1984130|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:19996378|PMID:20031635|PMID:20040519|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20436212|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22354620|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:2313012|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23989646|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24080067|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25174857|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25467552|PMID:25525159|PMID:25554238|PMID:25559286|PMID:25564553|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:2654361|PMID:26546361|PMID:26594346|PMID:26669661|PMID:26675252|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:28096388|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29420653|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30079003|PMID:30122538|PMID:30170673|PMID:30219255|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30327538|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30755392|PMID:30758498|PMID:30816480|PMID:30847666|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:31019283|PMID:31043699|PMID:31078652|PMID:31114860|PMID:31226583|PMID:31315195|PMID:31337358|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31521807|PMID:31535183|PMID:31565860|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32048431|PMID:32096762|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32470535|PMID:32508908|PMID:32600061|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32901917|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33095155|PMID:33141630|PMID:33181513|PMID:33256261|PMID:33309763|PMID:33484326|PMID:33498651|PMID:33574382|PMID:33600800|PMID:33614747|PMID:33664273|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34319147|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34411974|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34798354|PMID:34860437|PMID:34884666|PMID:34930020|PMID:35442947|PMID:35535697|PMID:36102233|PMID:36197721|PMID:36505078|PMID:36806574|PMID:37086329|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:1000359|PMID:10024302|PMID:10077519|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10477533|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10654932|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10868744|PMID:10874277|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11351021|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11684219|PMID:11761407|PMID:11799244|PMID:11802537|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12442296|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12710526|PMID:12736279|PMID:12808265|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14527360|PMID:14531214|PMID:14576198|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14756674|PMID:14760488|PMID:1484536|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15511625|PMID:15528464|PMID:15547041|PMID:15635208|PMID:15649981|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15913580|PMID:15924777|PMID:15935335|PMID:16012827|PMID:16038262|PMID:16039274|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16244680|PMID:16246960|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16534005|PMID:16542208|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17224687|PMID:17227916|PMID:17292394|PMID:17329207|PMID:17329209|PMID:17438609|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17597962|PMID:17698596|PMID:17704175|PMID:17905336|PMID:17932138|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18308161|PMID:18398469|PMID:18400097|PMID:18426444|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18599533|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:18808722|PMID:19008479|PMID:19017345|PMID:19027783|PMID:19041715|PMID:19114714|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19167356|PMID:19184172|PMID:19198868|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19684871|PMID:19693805|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:1984130|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19913547|PMID:19934648|PMID:19959132|PMID:19996378|PMID:20031635|PMID:20040519|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20436212|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20920651|PMID:20960614|PMID:20975234|PMID:20981092|PMID:20981542|PMID:21059661|PMID:21063070|PMID:21070882|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21152909|PMID:21164565|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21380488|PMID:21451124|PMID:21459285|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21779290|PMID:21810471|PMID:21854832|PMID:21895724|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22354620|PMID:22373669|PMID:22378279|PMID:22382802|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22708720|PMID:22727609|PMID:22739119|PMID:22771213|PMID:22818067|PMID:22882672|PMID:22885918|PMID:22927196 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:2313012|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:23400408|PMID:234416|PMID:234478|PMID:234493|PMID:234515|PMID:234518|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23935525|PMID:23989646|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24070608|PMID:24080067|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24314077|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24373870|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24573873|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24689698|PMID:24705789|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25087618|PMID:25119684|PMID:25139741|PMID:25163546|PMID:25174857|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25467552|PMID:25471708|PMID:25525159|PMID:25554238|PMID:25559286|PMID:25564553|PMID:25564853|PMID:25608792|PMID:25616976|PMID:25634836|PMID:25637381|PMID:25639344|PMID:25640679|PMID:25645639|PMID:25649125|PMID:25661095|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25804018|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25889101|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25956966|PMID:25974115|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26118460|PMID:26118593|PMID:26132555|PMID:26159999|PMID:26187847|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26469389|PMID:26496715|PMID:26498160|PMID:2654361|PMID:26546361|PMID:26594346|PMID:26669661|PMID:26675252|PMID:26681611|PMID:26688388|PMID:26704558|PMID:26715165|PMID:26734131|PMID:26743238|PMID:26745405|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:280141|PMID:280145|PMID:28096388|PMID:28212739|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28341588|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28479515|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28595573|PMID:28600177|PMID:28600387|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29194874|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29420653|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29582136|PMID:29598884|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29672598|PMID:29677589|PMID:29684900|PMID:29740400|PMID:29790872|PMID:29851656|PMID:29857160|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30036649|PMID:30079003|PMID:30122538 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:30170673|PMID:30219255|PMID:30244407|PMID:30302399|PMID:30311386|PMID:30327538|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30609406|PMID:30615648|PMID:30686478|PMID:30755392|PMID:30758498|PMID:30816480|PMID:30847666|PMID:30919684|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31078652|PMID:31114860|PMID:31226583|PMID:31229680|PMID:31246743|PMID:31315195|PMID:31337358|PMID:31395126|PMID:31415974|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31520628|PMID:31521807|PMID:31535183|PMID:31565860|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31765965|PMID:31865382|PMID:31883792|PMID:3189954|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32004091|PMID:32009526|PMID:32015334|PMID:32048431|PMID:32096762|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32298319|PMID:32383558|PMID:32421437|PMID:32470535|PMID:32508908|PMID:32528524|PMID:32553227|PMID:32600061|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32901917|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33095155|PMID:33141630|PMID:33181513|PMID:33256261|PMID:33309763|PMID:33484326|PMID:33498651|PMID:33504163|PMID:33574382|PMID:33600800|PMID:33614747|PMID:33664273|PMID:33693037|PMID:33777698|PMID:33876311|PMID:33900377|PMID:34135346|PMID:34165182|PMID:34319147|PMID:34333030|PMID:34389451|PMID:34395343|PMID:34398675|PMID:34404389|PMID:34411974|PMID:34426522|PMID:34428338|PMID:34495297|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34798354|PMID:34860437|PMID:34884666|PMID:34930020|PMID:35352813|PMID:35442947|PMID:35535697|PMID:35703482|PMID:35911527|PMID:36102233|PMID:36136372|PMID:36197721|PMID:36293497|PMID:36505078|PMID:36674868|PMID:36806574|PMID:36898499|PMID:37086329|PMID:37449562|PMID:37457655|PMID:37589201|PMID:737968|PMID:738035|PMID:752693|PMID:8487283|PMID:8528244|PMID:8818942|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9164812|PMID:9272155|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9600240|PMID:9641694|PMID:9654228|PMID:9693036|PMID:9702906|PMID:9781056|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:2843 long QT syndrome severity ISO RGD:1353354 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:3' utr:rs2519184, rs8234, rs10798 (human) PMID:22199116|REF_RGD_ID:7247613 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:299 adenocarcinoma ISO RGD:1353354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23975432 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:12388934|PMID:15840476|PMID:17470695|PMID:19490272|PMID:19716085|PMID:19841300|PMID:21185501|PMID:22199116|PMID:22378279|PMID:22581653|PMID:22949429|PMID:23571586|PMID:23631430|PMID:24033266|PMID:24190995|PMID:24440382|PMID:25637381|PMID:25705178|PMID:25741868|PMID:25854863|PMID:25985138|PMID:26159999|PMID:27041096|PMID:28492532|PMID:28739325|PMID:28988457|PMID:29167462|PMID:29197658|PMID:30615648|PMID:31737537|PMID:32048431|PMID:32233023|PMID:32553227|PMID:34398675|PMID:37449562|PMID:9799083 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:4440 seminoma ISO RGD:1353354 D RGD:9068941 20200609 RGD PMID:15389592|REF_RGD_ID:1580497 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome PMID:10704188|PMID:10973849|PMID:11530100|PMID:11997281|PMID:12566525|PMID:14510661|PMID:14678125|PMID:14760488|PMID:15051636|PMID:15840476|PMID:15935335|PMID:19716085|PMID:19841300|PMID:22378279|PMID:22581653|PMID:22629021|PMID:23174487|PMID:23392653|PMID:24033266|PMID:24055113|PMID:24190995|PMID:24357532|PMID:24606995|PMID:24912595|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25741868|PMID:25854863|PMID:26077850|PMID:26318259|PMID:26669661|PMID:27159321|PMID:27650965|PMID:27884173|PMID:28166811|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28944242|PMID:29197658|PMID:31696929 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal dominant KCNQ1-related disease | ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome | ClinVar Annotator: match by term: KCNQ1-related condition PMID:10024302|PMID:10367071|PMID:10477533|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10807545|PMID:10973849|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11530100|PMID:11668638|PMID:11997281|PMID:12051962|PMID:12205113|PMID:12402336|PMID:12442276|PMID:12442296|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12702160|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15466642|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15935335|PMID:16199547|PMID:16414944|PMID:16556866|PMID:16818214|PMID:16831322|PMID:17016049|PMID:17329207|PMID:17329209|PMID:17470695|PMID:17576681|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18174212|PMID:18426444|PMID:18452873|PMID:18752142|PMID:19124472|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19825999|PMID:19841298|PMID:1984130|PMID:19841300|PMID:19862833|PMID:19934648|PMID:20044973|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21241800|PMID:21241880|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21779290|PMID:21810471|PMID:21895724|PMID:21956039|PMID:22199116|PMID:22293141|PMID:22378279|PMID:22456477|PMID:22509038|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22885918|PMID:22927196|PMID:22947121|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23174487|PMID:23251633|PMID:23350853|PMID:23392653|PMID:23396983|PMID:234515|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24218437|PMID:24223155|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24665220|PMID:24667783|PMID:24681627|PMID:24861447|PMID:24912595|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25564853|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25741868|PMID:25786344|PMID:25854863|PMID:25916402|PMID:25929701|PMID:26063740|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26228265|PMID:26318259|PMID:26412604|PMID:26423924|PMID:26467025|PMID:2654361|PMID:26546361|PMID:26669661|PMID:26743238|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27816319|PMID:27831900|PMID:27871843|PMID:27884173|PMID:27920829|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28588847|PMID:28606196|PMID:28704380|PMID:28944242|PMID:29037160|PMID:29197658|PMID:29247119|PMID:29255176|PMID:29439887|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29677589|PMID:29740400|PMID:29857160|PMID:29876285|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30609406|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642|PMID:30974404|PMID:31114860|PMID:31226583|PMID:31427586|PMID:31447099|PMID:31521807|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32686758|PMID:32695137|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33777698|PMID:34135346|PMID:34333030|PMID:34404389|PMID:34428338|PMID:34505893|PMID:34697415|PMID:34798354|PMID:34860437|PMID:34930020|PMID:35352813|PMID:35442947|PMID:35703482|PMID:36102233|PMID:36806574|PMID:37457655|PMID:8487283|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9536098|PMID:9570196|PMID:9654228|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:630 genetic disease ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12702160|PMID:15840476|PMID:16414944|PMID:17227916|PMID:19716085|PMID:19841298|PMID:19862833|PMID:22581653|PMID:24033266|PMID:24223155|PMID:24388587|PMID:24667783|PMID:25163546|PMID:25441029|PMID:25741868|PMID:26669661|PMID:27761162|PMID:28364778|PMID:28492532|PMID:28794082|PMID:29097701|PMID:29197658|PMID:32470535|PMID:32893267|PMID:33141630|PMID:9323054 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:8488 polyhydramnios ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:15781747|PMID:15840476|PMID:19716085|PMID:1984130|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:2654361|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099|PMID:32893267|PMID:34135346|PMID:34404389|PMID:34798354|PMID:35352813|PMID:36102233 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28166811|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28492532|PMID:28532774|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29037160|PMID:29197658|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29672598|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30302399|PMID:30311386|PMID:30571187|PMID:30615648|PMID:30758498|PMID:30935642|PMID:31337358|PMID:31447099|PMID:31565860|PMID:31696929 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32917565|PMID:34333030|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25650408|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28166811|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29037160|PMID:29197658 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31043699|PMID:31315195|PMID:31337358|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32508908|PMID:32695137|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33498651|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34930020|PMID:36197721|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21270786|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25956966|PMID:25974703|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26467025|PMID:26498160|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28212739|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:28988457|PMID:29021305|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31043699|PMID:31315195|PMID:31337358|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32508908|PMID:32695137|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33498651|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34930020|PMID:36197721|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:1984130|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25956966|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:2654361|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26704558|PMID:26715165|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:28212739|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31043699|PMID:31114860|PMID:31315195|PMID:31337358|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31521807|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32470535|PMID:32508908|PMID:32695137|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34930020|PMID:35442947|PMID:36102233|PMID:36197721|PMID:36806574|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:28704380|PMID:28720088|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30758498|PMID:30847666|PMID:30935642|PMID:31019283|PMID:31043699|PMID:31114860|PMID:31315195|PMID:31337358|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31521807|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32470535|PMID:32508908|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33614747|PMID:33693037|PMID:33876311|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34426522|PMID:34428338|PMID:34505893|PMID:34691145|PMID:34930020|PMID:35442947|PMID:36102233|PMID:36197721|PMID:36806574|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:1000359|PMID:10024302|PMID:10090886|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10654932|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11761407|PMID:11799244|PMID:11997281|PMID:12402336|PMID:12442276|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12877697|PMID:14510661|PMID:14531214|PMID:14661676|PMID:14661677|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15500450|PMID:15528464|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16253915|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16564513|PMID:16623272|PMID:16922724|PMID:16981927|PMID:16987820|PMID:17016049|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17222736|PMID:17227916|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18239739|PMID:18426444|PMID:18452873|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19198868|PMID:19261104|PMID:19348785|PMID:19490272|PMID:19590188|PMID:19693805|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:1984130|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20226272|PMID:20368164|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20851114|PMID:20981092|PMID:21063070|PMID:21131640|PMID:21152909|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21952006|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22944906|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23075154|PMID:23098067|PMID:23124029|PMID:23130128|PMID:23153844|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23392653|PMID:23396983|PMID:23400408|PMID:234416|PMID:234478|PMID:234493|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23710137|PMID:23788249|PMID:23861362|PMID:23861489|PMID:23890619|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24190995|PMID:24223155|PMID:24269949|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24596401|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24713462|PMID:24721657|PMID:24762593|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25163546|PMID:25187895|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25447171|PMID:25525159|PMID:25554238|PMID:25559286|PMID:25564853|PMID:25608792|PMID:25637381|PMID:25639344|PMID:25649125|PMID:25661095|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25845942|PMID:25854863|PMID:25935074|PMID:25956966|PMID:25985138|PMID:26019114|PMID:26022593|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26189708|PMID:26228265|PMID:26318259|PMID:26332594|PMID:26338694|PMID:26346102|PMID:26383259|PMID:26385840|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:2654361|PMID:26546361|PMID:26594346|PMID:26669661|PMID:26675252|PMID:26681611|PMID:26704558|PMID:26715165|PMID:26743238|PMID:27026747|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27379800|PMID:27451284|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:280141|PMID:280145|PMID:28212739|PMID:28341588|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28491806|PMID:28492532|PMID:28532774|PMID:28566242|PMID:28595573|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28912206|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29420653|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29622001|PMID:29654130|PMID:29661707|PMID:29672598|PMID:29684900|PMID:29740400|PMID:29876285|PMID:29922582|PMID:29952348|PMID:30008122|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30758498|PMID:30847666|PMID:30919684|PMID:30935642|PMID:31019283|PMID:31043699|PMID:31114860|PMID:31315195|PMID:31337358|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31520628|PMID:31521807|PMID:31565860|PMID:31589614|PMID:31696929|PMID:31737537|PMID:31765965|PMID:3189954|PMID:31899541|PMID:31994352|PMID:32048431|PMID:32233023|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32470535|PMID:32508908|PMID:32528524|PMID:32553227|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32901917|PMID:32917565|PMID:33141630|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33614747|PMID:33693037|PMID:33876311|PMID:34135346|PMID:34165182|PMID:34333030|PMID:34389451|PMID:34395343|PMID:34398675|PMID:34404389|PMID:34426522|PMID:34428338|PMID:34495297|PMID:34505893|PMID:34691145|PMID:34798354|PMID:34930020|PMID:35352813|PMID:35442947|PMID:35703482|PMID:36102233|PMID:36197721|PMID:36293497|PMID:36505078|PMID:36674868|PMID:36806574|PMID:36898499|PMID:37449562|PMID:37589201|PMID:737968|PMID:738035|PMID:752693|PMID:8528244|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9641694|PMID:9693036|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000156 Metaplasia ISO RGD:621503 D RGD:9068941 20200609 RGD associated with Stomach Diseases PMID:18587108|REF_RGD_ID:2317967 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:14661677|PMID:15913580|PMID:17210839|PMID:18752142|PMID:19646991|PMID:19841300|PMID:22818067|PMID:22947121|PMID:24033266|PMID:24687331|PMID:25741868|PMID:28438721|PMID:28492532 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:10024302|PMID:10367071|PMID:10482963|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11278406|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11761407|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12402336|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12702160|PMID:12736279|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15159330|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15466642|PMID:15500450|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16109388|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16818214|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17329207|PMID:17329209|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18599533|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19490272|PMID:19590188|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:1984130|PMID:19841300|PMID:19862833|PMID:19934648|PMID:20044973|PMID:20421371|PMID:20436212|PMID:20486126|PMID:20541041|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21063070|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21350584|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21956039|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23350853|PMID:23375927|PMID:23392653|PMID:23396983|PMID:234416|PMID:234515|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24006450|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24218437|PMID:24223155|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24762593|PMID:24818999|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25351510|PMID:25447171|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25974115|PMID:25985138|PMID:26019114|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26168993|PMID:26228265|PMID:26318259|PMID:26346102|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:2654361|PMID:26546361|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26937405|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27920829|PMID:28302345|PMID:28360401|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28704380|PMID:28720088|PMID:28944242|PMID:28988457|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29372044|PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29677589|PMID:29740400|PMID:29876285|PMID:29922582|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30935642 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:30974404|PMID:31043699|PMID:31114860|PMID:31226583|PMID:31315195|PMID:31427586|PMID:31447099|PMID:31521807|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32553227|PMID:32686758|PMID:32695137|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33693037|PMID:33777698|PMID:34135346|PMID:34165182|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34404389|PMID:34428338|PMID:34495297|PMID:34505893|PMID:34697415|PMID:34798354|PMID:34860437|PMID:34930020|PMID:35352813|PMID:35442947|PMID:35703482|PMID:36102233|PMID:36806574|PMID:36898499|PMID:37449562|PMID:37457655|PMID:37589201|PMID:8487283|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9536098|PMID:9641694|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001050 Short QT Syndrome 2 susceptibility ISO RGD:1353354 D RGD:7240710 20240308 OMIM 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001295 Achlorhydria ISO RGD:621503 D RGD:9068941 20200609 RGD DNA:deletion:exon (rat) PMID:16368876|REF_RGD_ID:1581602 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001790 Long QT Syndrome 1/2 ISO RGD:1353354 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic PMID:10086971|PMID:10376919|PMID:10973849|PMID:12702160|PMID:14678125|PMID:15028050|PMID:15498462|PMID:16627448|PMID:16922724|PMID:17470695|PMID:17984373|PMID:19490272|PMID:19716085|PMID:19841300|PMID:20368164|PMID:22095730|PMID:22581653|PMID:22949429|PMID:23124029|PMID:24217263|PMID:24861447|PMID:25192979|PMID:25741868|PMID:26318259|PMID:28492532|PMID:32893267|PMID:33900377|PMID:8528244 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:10482963|PMID:10704188|PMID:10737999|PMID:10973849|PMID:11530100|PMID:12736279|PMID:14510661|PMID:15935335|PMID:16556866|PMID:19862833|PMID:22309168|PMID:22539601|PMID:23098067|PMID:23392653|PMID:24033266|PMID:24052033|PMID:24552659|PMID:24912595|PMID:25236808|PMID:25705178|PMID:25741868|PMID:26019114|PMID:26546361|PMID:27451284|PMID:27816319|PMID:27831900|PMID:28438721|PMID:28492532|PMID:28720088|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29922582|PMID:32238909|PMID:9323054 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9002245 Intestinal Neoplasms ISO RGD:1353354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23975432 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823764 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25351510|PMID:25741868|PMID:27871843|PMID:28492532|PMID:29255176 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9003163 Heart Block ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:10482963|PMID:10704188|PMID:10737999|PMID:10973849|PMID:11530100|PMID:12736279|PMID:14510661|PMID:15935335|PMID:16556866|PMID:19862833|PMID:22309168|PMID:22539601|PMID:23098067|PMID:23392653|PMID:24033266|PMID:24052033|PMID:24552659|PMID:24912595|PMID:25236808|PMID:25705178|PMID:25741868|PMID:26019114|PMID:26546361|PMID:27451284|PMID:27816319|PMID:27831900|PMID:28438721|PMID:28492532|PMID:28720088|PMID:29247119|PMID:29372044|PMID:29379719|PMID:29654130|PMID:29661707|PMID:29740400|PMID:29922582|PMID:32238909|PMID:9323054 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1353354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004538 Hearing Loss ISO RGD:1353354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:1000359|PMID:10024302|PMID:10086971|PMID:10090529|PMID:10090886|PMID:10220144|PMID:10220146|PMID:10367071|PMID:10376919|PMID:10409658|PMID:10482963|PMID:10483966|PMID:10508236|PMID:10560595|PMID:10654932|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10868744|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11278406|PMID:11410559|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11799244|PMID:11997281|PMID:12037327|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12205790|PMID:12388934|PMID:12402336|PMID:12442276|PMID:12442296|PMID:12477631|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12690509|PMID:12702160|PMID:12736279|PMID:12820704|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14531214|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14756674|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15466642|PMID:15469540|PMID:15498462|PMID:15511625|PMID:15528464|PMID:15635208|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851119|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16039274|PMID:16253915|PMID:16414944|PMID:16556865|PMID:16556866|PMID:16627448|PMID:16818214|PMID:16831322|PMID:16922724|PMID:16931984|PMID:16937190|PMID:16981927|PMID:16987820|PMID:17053194|PMID:17088455|PMID:17091796|PMID:17161064|PMID:17192539|PMID:17210839|PMID:17224687|PMID:17329207|PMID:17329209|PMID:17467628|PMID:17470695|PMID:17482572|PMID:17576681|PMID:17698596|PMID:17905336|PMID:17984373|PMID:17999538|PMID:18004376|PMID:18079560|PMID:18165683|PMID:18174212|PMID:18222468|PMID:18400097|PMID:18452873|PMID:18464931|PMID:18580685|PMID:18611041|PMID:18713323|PMID:18752142|PMID:18774102|PMID:19008479|PMID:19114714|PMID:19160088|PMID:19165230|PMID:19261104|PMID:19322600|PMID:19348785|PMID:19490272|PMID:19540844|PMID:19549851|PMID:19590188|PMID:19632626|PMID:19693805|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:1984130|PMID:19841300|PMID:19843919|PMID:19862833|PMID:19934648|PMID:19959132|PMID:20031635|PMID:20044973|PMID:20138589|PMID:20167303|PMID:20186784|PMID:20196769|PMID:20226272|PMID:20348026|PMID:20368164|PMID:20403459|PMID:20421371|PMID:20479111|PMID:20486126|PMID:20487114|PMID:20541041|PMID:20659946|PMID:20660394|PMID:20662986|PMID:20833965|PMID:20850564|PMID:20851114|PMID:20981092|PMID:21059661|PMID:21118729|PMID:21129503|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21241800|PMID:21241880|PMID:21350584|PMID:21451124|PMID:21482651|PMID:21499742|PMID:21511995|PMID:21576493|PMID:21635612|PMID:21778721|PMID:21895724|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22429796|PMID:22456477|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22613981|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22882672|PMID:22885918|PMID:22927196|PMID:22949429|PMID:22956155|PMID:23000022|PMID:23075154|PMID:23092362|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23139254|PMID:23153844|PMID:23158531|PMID:23193492|PMID:23251633|PMID:23271449|PMID:23291057|PMID:23304551|PMID:23324056|PMID:23350853|PMID:23392653|PMID:23400408|PMID:234416|PMID:234478|PMID:234515|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23844633|PMID:23851063|PMID:23861362|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24080067|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24217263|PMID:24218437|PMID:24223155|PMID:24269949|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24440382|PMID:24552659|PMID:24573873|PMID:24606995|PMID:24666684|PMID:24667783|PMID:24681627|PMID:24721657|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25028166|PMID:25037568|PMID:25119684|PMID:25139741|PMID:25187895|PMID:25192979|PMID:25236808|PMID:25294783|PMID:25344363|PMID:25348405|PMID:25351510|PMID:25444851|PMID:25453094|PMID:25467552|PMID:25471708|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25645639|PMID:25649125|PMID:25705178 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:25741868|PMID:25786344|PMID:25825456|PMID:25845942|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25935074|PMID:25985138|PMID:25991456|PMID:26019114|PMID:26022593|PMID:26063740|PMID:26066609|PMID:26077850|PMID:26132555|PMID:26159999|PMID:26318259|PMID:26344792|PMID:26346102|PMID:26383259|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26498160|PMID:2654361|PMID:26546361|PMID:26669661|PMID:26675252|PMID:26681611|PMID:26715165|PMID:26743238|PMID:26813553|PMID:26937405|PMID:27000522|PMID:27026747|PMID:27041096|PMID:27041150|PMID:27114410|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27311732|PMID:27325960|PMID:27332903|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27479201|PMID:27485560|PMID:27650965|PMID:27690226|PMID:27761162|PMID:27807201|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27884173|PMID:27917693|PMID:27920829|PMID:27921062|PMID:28012188|PMID:280141|PMID:28217227|PMID:28249770|PMID:28264985|PMID:28302345|PMID:28360401|PMID:28438721|PMID:28449774|PMID:28491751|PMID:28492532|PMID:28518168|PMID:28532774|PMID:28566242|PMID:28575668|PMID:28588847|PMID:28600387|PMID:28606196|PMID:28619993|PMID:28720088|PMID:28739325|PMID:28749187|PMID:28749435|PMID:28794082|PMID:28798025|PMID:28944242|PMID:28988457|PMID:29021305|PMID:29033053|PMID:29037160|PMID:29167462|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29330128|PMID:29372044|PMID:29379719|PMID:29401425|PMID:29439887|PMID:29447731|PMID:29449639|PMID:29451064|PMID:29497013|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707|PMID:29672598|PMID:29677589|PMID:29684900|PMID:29740400|PMID:29790872|PMID:29876285|PMID:29922582|PMID:29925740|PMID:29952348|PMID:30008122|PMID:30036649|PMID:30122538|PMID:30219255|PMID:30302399|PMID:30369311|PMID:30406014|PMID:30530868|PMID:30571187|PMID:30591322|PMID:30615648|PMID:30686478|PMID:30755392|PMID:30847666|PMID:30919684|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31009818|PMID:31019283|PMID:31043699|PMID:31114860|PMID:31226583|PMID:31229680|PMID:31246743|PMID:31315195|PMID:31395126|PMID:31424047|PMID:31427586|PMID:31447099|PMID:31484877|PMID:31520628|PMID:31521807|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31729605|PMID:31737537|PMID:31883792|PMID:31899541|PMID:31980526|PMID:31994352|PMID:32009526|PMID:32015334|PMID:32048431|PMID:32168391|PMID:32233023|PMID:32238909|PMID:32298319|PMID:32383558|PMID:32421437|PMID:32470535|PMID:32508908|PMID:32553227|PMID:32686758|PMID:32695137|PMID:32797034|PMID:32893267|PMID:32901917|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33256261|PMID:33484326|PMID:33498651|PMID:33600800|PMID:33664273|PMID:33777698|PMID:33876311|PMID:33900377|PMID:34135346|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34404389|PMID:34411974|PMID:34426522|PMID:34428338|PMID:34495297|PMID:34505893|PMID:34691145|PMID:34697415|PMID:34798354|PMID:34860437|PMID:34884666|PMID:34930020|PMID:35352813|PMID:35442947|PMID:35535697|PMID:35703482|PMID:35911527|PMID:36102233|PMID:36197721|PMID:36505078|PMID:36806574|PMID:37449562|PMID:37457655|PMID:737968|PMID:8487283|PMID:8528244|PMID:8872472|PMID:9020846|PMID:9024139|PMID:9302275|PMID:9312006|PMID:9323054|PMID:9328483|PMID:9386136|PMID:9482580|PMID:9536098|PMID:9570196|PMID:9693036|PMID:9781056|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9005444 Torsades de Pointes ISO RGD:1353354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653|PMID:28492532|PMID:29532034|PMID:30571187 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:15781747|PMID:15840476|PMID:19716085|PMID:1984130|PMID:19841300|PMID:22581653|PMID:22949429|PMID:23392653|PMID:23631430|PMID:24033266|PMID:24947509|PMID:25741868|PMID:25854863|PMID:2654361|PMID:26546361|PMID:26669661|PMID:27831900|PMID:28492532|PMID:30755392|PMID:31447099|PMID:32893267|PMID:34135346|PMID:34404389|PMID:34798354|PMID:35352813|PMID:36102233 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007 sudden infant death syndrome ISO RGD:1353354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:15913580|PMID:16534005|PMID:17210839|PMID:17222736|PMID:17470695|PMID:17999538|PMID:18222468|PMID:18596570|PMID:18611041|PMID:19490272|PMID:19716085|PMID:19815527|PMID:21185501|PMID:21215473|PMID:21778721|PMID:22581653|PMID:22677073|PMID:23304551|PMID:23465283|PMID:24033266|PMID:24920132|PMID:25637381|PMID:25741868|PMID:26066609|PMID:26332594|PMID:27884173|PMID:28492532|PMID:29197658|PMID:30302399|PMID:30615648|PMID:31043699|PMID:31337358|PMID:31737537 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1353354 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007479 Habitual Abortions ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion PMID:16414944|PMID:22581653|PMID:25741868|PMID:34398675 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1353354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:10024302|PMID:10367071|PMID:10482963|PMID:10483966|PMID:10560595|PMID:10704188|PMID:10728423|PMID:10737999|PMID:10807545|PMID:10973849|PMID:11021476|PMID:11087258|PMID:11140949|PMID:11162126|PMID:11216980|PMID:11530100|PMID:11668638|PMID:11668641|PMID:11761407|PMID:11997281|PMID:12051962|PMID:12175777|PMID:12205113|PMID:12402336|PMID:12522251|PMID:12566525|PMID:12653681|PMID:12702160|PMID:12736279|PMID:12877697|PMID:1346223|PMID:14510661|PMID:14661676|PMID:14661677|PMID:1467812|PMID:14678125|PMID:14731347|PMID:14760488|PMID:14998624|PMID:15028050|PMID:15051636|PMID:15140888|PMID:15176425|PMID:15192825|PMID:15214551|PMID:15234419|PMID:15242738|PMID:15368194|PMID:15466642|PMID:15500450|PMID:15547041|PMID:15746441|PMID:15781747|PMID:15840476|PMID:15851171|PMID:15913580|PMID:15935335|PMID:16038262|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16414944|PMID:16487223|PMID:16556865|PMID:16556866|PMID:16818214|PMID:16922724|PMID:17016049|PMID:17161064|PMID:17210839|PMID:17222736|PMID:17329207|PMID:17329209|PMID:17467630|PMID:17470695|PMID:17576681|PMID:17597962|PMID:17905336|PMID:17999538|PMID:18004376|PMID:18174212|PMID:18222468|PMID:18426444|PMID:18452873|PMID:18599533|PMID:18611041|PMID:18752142|PMID:19124472|PMID:19160088|PMID:19165230|PMID:19490272|PMID:19590188|PMID:19632626|PMID:19646991|PMID:19716085|PMID:19808498|PMID:19815527|PMID:19825999|PMID:19841298|PMID:1984130|PMID:19841300|PMID:19862833|PMID:19934648|PMID:20044973|PMID:20421371|PMID:20486126|PMID:20541041|PMID:20662986|PMID:20850564|PMID:20851114|PMID:21063070|PMID:21118729|PMID:21131640|PMID:21185501|PMID:21215473|PMID:21224508|PMID:21350584|PMID:21451124|PMID:21511995|PMID:21576493|PMID:21778721|PMID:21779290|PMID:21956039|PMID:22095730|PMID:22199116|PMID:22250012|PMID:22293141|PMID:22309168|PMID:22378279|PMID:22456477|PMID:22508963|PMID:22509038|PMID:22539601|PMID:22581653|PMID:22629021|PMID:22677073|PMID:22727609|PMID:22739119|PMID:22818067|PMID:22885918|PMID:22927196|PMID:22947121|PMID:2294929|PMID:22949429|PMID:22956155|PMID:23098067|PMID:23123674|PMID:23124029|PMID:23130128|PMID:23158531|PMID:23174487|PMID:23251633|PMID:23304551|PMID:23350853|PMID:23392653|PMID:23396983|PMID:234416|PMID:234515|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23788249|PMID:23851063|PMID:23861362|PMID:23890619|PMID:23935525|PMID:23995044|PMID:24033266|PMID:24052033|PMID:24055113|PMID:24096004|PMID:24144883|PMID:24184248|PMID:24190995|PMID:24218437|PMID:24223155|PMID:24284363|PMID:24291113|PMID:24357532|PMID:24363352|PMID:24372464|PMID:24388587|PMID:24440382|PMID:24552659|PMID:24606995|PMID:24631775|PMID:24667783|PMID:24681627|PMID:24687331|PMID:24762593|PMID:24861447|PMID:24912595|PMID:24920132|PMID:24947509|PMID:25037568|PMID:25119684|PMID:25236808|PMID:25294783|PMID:25326637|PMID:25344363|PMID:25351510|PMID:25444851|PMID:25447171|PMID:25453094|PMID:25525159|PMID:25559286|PMID:25608792|PMID:25637381|PMID:25649125|PMID:25705178|PMID:25712016|PMID:25741868|PMID:25786344|PMID:25854863|PMID:25916402|PMID:25929701|PMID:25985138|PMID:26019114|PMID:26077850|PMID:26118460|PMID:26159999|PMID:26187847|PMID:26228265|PMID:26318259|PMID:26346102|PMID:26385840|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26496715|PMID:26498160|PMID:2654361|PMID:26546361|PMID:26669661|PMID:26743238|PMID:26937405|PMID:27000522|PMID:27041096|PMID:27041150|PMID:27159321|PMID:27231019|PMID:27251404|PMID:27379800|PMID:27451284|PMID:27470144|PMID:27650965|PMID:27690226|PMID:27707468|PMID:27761162|PMID:27810088|PMID:27816319|PMID:27831900|PMID:27868350|PMID:27871843|PMID:27884173|PMID:27920829|PMID:28302345|PMID:28360401|PMID:28364778|PMID:28383569|PMID:28438721|PMID:28449774|PMID:28492532|PMID:28518168|PMID:28588847|PMID:28600177|PMID:28606196|PMID:28619993|PMID:28704380|PMID:28720088|PMID:28944242|PMID:28988457|PMID:29033053|PMID:29037160|PMID:29197658|PMID:29241489|PMID:29247119|PMID:29255176|PMID:29372044|PMID:29379719|PMID:29449639|PMID:29532034|PMID:29544605|PMID:29598884|PMID:29654130|PMID:29661707 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 ISO RGD:1353354 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:29677589|PMID:29740400|PMID:29790872|PMID:29876285|PMID:29922582|PMID:30302399|PMID:30311386|PMID:30369311|PMID:30406014|PMID:30571187|PMID:30615648|PMID:30755392|PMID:30847666|PMID:30919684|PMID:30935642|PMID:30967788|PMID:30974404|PMID:31043699|PMID:31114860|PMID:31226583|PMID:31315195|PMID:31427586|PMID:31447099|PMID:31521807|PMID:31565860|PMID:31589614|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31994352|PMID:32048431|PMID:32238909|PMID:32268277|PMID:32383558|PMID:32421437|PMID:32553227|PMID:32686758|PMID:32695137|PMID:32893267|PMID:32917565|PMID:32936022|PMID:33087929|PMID:33181513|PMID:33600800|PMID:33693037|PMID:33777698|PMID:33876311|PMID:34135346|PMID:34165182|PMID:34333030|PMID:34389451|PMID:34398675|PMID:34404389|PMID:34428338|PMID:34495297|PMID:34505893|PMID:34697415|PMID:34798354|PMID:34860437|PMID:34930020|PMID:35352813|PMID:35442947|PMID:35703482|PMID:36102233|PMID:36806574|PMID:36898499|PMID:37449562|PMID:37457655|PMID:8487283|PMID:9312006|PMID:9323054|PMID:9386136|PMID:9536098|PMID:9641694|PMID:9799083|PMID:9927399 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008197 Familial Atrial Fibrillation 3 susceptibility ISO RGD:1353354 D RGD:7240710 20240308 OMIM 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9008681 Deafness ISO RGD:621503 D RGD:9068941 20200609 RGD DNA:deletion:exon (rat) PMID:16368876|REF_RGD_ID:1581602 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711366|PMID:18711367|PMID:26551672 8965953 Kcnq1 potassium voltage-gated channel subfamily Q member 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1353354 D RGD:9068941 20231026 RGD associated with Environmental Illness; DNA:SNP:: (rs163184) (human) PMID:27281273|REF_RGD_ID:401850598 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1602205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:12236 primary biliary cholangitis ISO RGD:1618974 D RGD:9068941 20220825 MouseDO OMIM:109720 | OMIM:613007 | OMIM:613008 | OMIM:614220 | OMIM:614221 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:14115 toxic shock syndrome ISO RGD:1618974 D RGD:9068941 20201016 RGD PMID:23422584|REF_RGD_ID:39938961 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:14262 oral candidiasis ISO RGD:1618974 D RGD:9068941 20201015 RGD PMID:26320658|REF_RGD_ID:11534569 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:2043 hepatitis B treatment ISO RGD:1602205 D RGD:9068941 20201016 RGD human gene in a mouse model PMID:31926181|REF_RGD_ID:39938973 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:630 genetic disease ISO RGD:1602205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:874 bacterial pneumonia ISO RGD:1618974 D RGD:9068941 20201016 RGD associated with Pseudomonas Infections PMID:29695841|REF_RGD_ID:39938967 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:9000469 Viral Myocarditis disease_progression ISO RGD:1618974 D RGD:9068941 20201016 RGD associated with Coxsackievirus Infections; mRNA,protein:increased expression:heart,pancreas (mouse) PMID:29043433|REF_RGD_ID:39938975 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:9004017 Chronic Hepatitis C ISO RGD:1602205 D RGD:9068941 20201016 RGD protein:increased expression:liver (human) PMID:21739451|REF_RGD_ID:39938976 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1602205 D RGD:9068941 20201015 RGD protein:increased expression:liver (human) PMID:25225661|REF_RGD_ID:39938960 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:9004610 Acute Lung Injury severity ISO RGD:1618974 D RGD:9068941 20201016 RGD associated with toxic shock syndrome PMID:23422584|REF_RGD_ID:39938961 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1602205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22196138 8965979 Zc3h12a zinc finger CCCH-type containing 12A gene DOID:9006973 Acute Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:1618974 D RGD:9068941 20201015 RGD PMID:26320658|REF_RGD_ID:11534569 8965993 Fbn1 fibrillin 1 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:10766875|PMID:11175294|PMID:16596670|PMID:1729284|PMID:17324963|PMID:21784848|PMID:24199744|PMID:26796135|PMID:27914124|PMID:28492532|PMID:7611299|PMID:8880577|PMID:8882780 8965993 Fbn1 fibrillin 1 gene DOID:0050475 Weill-Marchesani syndrome ISO RGD:731577 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11524736|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12525539|PMID:12938084|PMID:14695540|PMID:15598221|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17418587|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:18435798|PMID:19012347|PMID:19059503|PMID:19161152|PMID:19293843|PMID:19370756|PMID:19396033|PMID:19839986|PMID:20200614|PMID:20301510|PMID:21883168|PMID:21895641|PMID:22772377|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:24033266|PMID:24055113|PMID:24311428|PMID:24564502|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:26188975|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27274304|PMID:27582083|PMID:27906200|PMID:27959697|PMID:28254189|PMID:28492532|PMID:28550590|PMID:28650953|PMID:28655553|PMID:29168297|PMID:29357934|PMID:29543232|PMID:29907982|PMID:30796334|PMID:31008308|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:35531120|PMID:7738200|PMID:7870075|PMID:8281141|PMID:8430317|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8988160|PMID:9150726|PMID:9338588|PMID:9399842|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:0050851 glomerulosclerosis ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16380460|REF_RGD_ID:7365080 8965993 Fbn1 fibrillin 1 gene DOID:0060218 CREST syndrome ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:10395706|REF_RGD_ID:12910471 8965993 Fbn1 fibrillin 1 gene DOID:0060249 scoliosis ISO RGD:731577 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital scoliosis | ClinVar Annotator: match by term: Scoliosis PMID:10464652|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12938084|PMID:14695540|PMID:15241795|PMID:17627385|PMID:17657824|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26333736|PMID:26787436|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:29875124|PMID:30311386|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425 8965993 Fbn1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16677079|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20564469|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27234404|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28492532|PMID:28539832|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31751304|PMID:31830381|PMID:32679894|PMID:33483584|PMID:33711475|PMID:34498425|PMID:3495735|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20564469|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28492532|PMID:28539832|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29907982|PMID:30192042|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31751304|PMID:31830381|PMID:32679894|PMID:33483584|PMID:33711475|PMID:34456093|PMID:34498425|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30192042|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:34150014|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35237611|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28642162|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:34150014|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35237611|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28642162|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35237611|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 | ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20132243|PMID:20200614|PMID:20301510|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28642162|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32679894|PMID:32989268|PMID:33200202|PMID:33483584|PMID:33711475|PMID:33824467|PMID:33844962|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34318135|PMID:34456093|PMID:34498425|PMID:34550612|PMID:35058154|PMID:35237611|PMID:37684520|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:0070234 Loeys-Dietz syndrome 2 ISO RGD:731577 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10647894|PMID:10756346|PMID:10874320|PMID:10942427|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11722462|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15583982|PMID:1569206|PMID:15733436|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16677079|PMID:16756980|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20132243|PMID:20200614|PMID:20301510|PMID:20564469|PMID:20591885|PMID:20886638|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22262941|PMID:22393277|PMID:22539873|PMID:22772377|PMID:22913777|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24635535|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25525159|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26133393|PMID:26272055|PMID:26333736|PMID:26410935|PMID:26621581|PMID:26770496|PMID:26787436|PMID:26899731|PMID:27112580|PMID:27146836|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27611364|PMID:27724990|PMID:27906200|PMID:28117189|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28642162|PMID:28650953|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30341550|PMID:30371227|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31098894|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31536524|PMID:31730815|PMID:31751304|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32679894|PMID:32989268|PMID:33174221|PMID:33200202|PMID:33483584|PMID:33711475|PMID:33824467|PMID:33844962|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34318135|PMID:34456093|PMID:34498425|PMID:34550612|PMID:3495735|PMID:35058154|PMID:35237611|PMID:37684520|PMID:4750422|PMID:7611299|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8406497|PMID:845663|PMID:8541880|PMID:8791520|PMID:8894692|PMID:8941093|PMID:9241263|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9536098|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:0080685 aortic dissection ISO RGD:731577 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Acute aortic dissection | ClinVar Annotator: match by term: Aortic dissection PMID:10633129|PMID:11143906|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11933199|PMID:12203987|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15241795|PMID:16222657|PMID:16971892|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17679947|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19089573|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19618372|PMID:19839986|PMID:19863550|PMID:20082464|PMID:21542060|PMID:21895641|PMID:21932315|PMID:22772377|PMID:23506379|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25637381|PMID:25741868|PMID:25812041|PMID:25907466|PMID:26272055|PMID:26621581|PMID:26787436|PMID:27112580|PMID:27153395|PMID:27582083|PMID:28492532|PMID:28655553|PMID:28659821|PMID:29357934|PMID:29543232|PMID:30371227|PMID:31227806|PMID:31506931|PMID:35058154|PMID:8040326|PMID:8541880|PMID:8791520|PMID:9399842|PMID:9401003|PMID:9452085 8965993 Fbn1 fibrillin 1 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:19012347|PMID:19159394|PMID:25741868|PMID:27611364|PMID:28973303 8965993 Fbn1 fibrillin 1 gene DOID:0111148 isolated ectopia lentis ISO RGD:731577 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial ectopia lentis PMID:11700157|PMID:11826022|PMID:12203987|PMID:12203992|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15980072|PMID:16342915|PMID:16765689|PMID:16971892|PMID:17242066|PMID:17657824|PMID:17679947|PMID:17701892|PMID:18079676|PMID:18087243|PMID:18615205|PMID:19293843|PMID:19353630|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:21895641|PMID:22772377|PMID:22950452|PMID:24033266|PMID:24161884|PMID:25053872|PMID:25741868|PMID:25944730|PMID:27274304|PMID:27611364|PMID:28492532|PMID:29357934|PMID:30675029|PMID:30838813|PMID:31950671|PMID:32123317|PMID:32404357|PMID:32679894|PMID:34281902|PMID:34663891|PMID:34818515|PMID:7802039|PMID:9399842 8965993 Fbn1 fibrillin 1 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:731577 D RGD:7240710 20180130 OMIM 8965993 Fbn1 fibrillin 1 gene DOID:0111150 autosomal dominant isolated ectopia lentis 1 ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:10189222|PMID:10198291|PMID:10229672|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:10942427|PMID:11068200|PMID:11139245|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22539873|PMID:2254511|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24564502|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31131229|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32009526|PMID:3212331|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33100332|PMID:33200202|PMID:33243733|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34135346|PMID:34140103|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3495735|PMID:35531120|PMID:36973604|PMID:4750422|PMID:627879|PMID:7611299|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8430317|PMID:845663|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452085|PMID:948948|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:0111243 acromicric dysplasia ISO RGD:731577 D RGD:7240710 20180130 OMIM 8965993 Fbn1 fibrillin 1 gene DOID:0111243 acromicric dysplasia ISO RGD:731577 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia | ClinVar Annotator: match by term: Geleophysic dwarfism PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12938084|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16571647|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852206|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24339047|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33082559|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3536967|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8281141|PMID:8430317|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:0111243 acromicric dysplasia ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:10189222|PMID:10198291|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852206|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:2254511|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24339047|PMID:24564502|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30796334|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32009526|PMID:3212331|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33082559|PMID:33100332|PMID:33243733|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34135346|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3495735|PMID:35531120|PMID:36973604|PMID:4750422|PMID:627879|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8281141|PMID:8430317|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452085|PMID:948948|PMID:9536098|PMID:960337|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868 8965993 Fbn1 fibrillin 1 gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:731577 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE PMID:1852208|PMID:25741868|PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:0111561 stiff skin syndrome ISO RGD:731577 D RGD:7240710 20180130 OMIM 8965993 Fbn1 fibrillin 1 gene DOID:0111561 stiff skin syndrome ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:10189222|PMID:10198291|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10679954|PMID:10694921|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:2254511|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24311428|PMID:24564502|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28254189|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30796334|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32009526|PMID:3212331|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33100332|PMID:33243733|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34135346|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3495735|PMID:35531120|PMID:36973604|PMID:4750422|PMID:627879|PMID:7738200|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8281141|PMID:8430317|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8941093|PMID:8988160|PMID:9150726|PMID:9338581|PMID:9338588|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:948948|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:0111724 geleophysic dysplasia ISO RGD:731577 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia PMID:10189222|PMID:10198291|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10694921|PMID:11524736|PMID:11748851|PMID:11826022|PMID:11875032|PMID:11933199|PMID:11992479|PMID:12161601|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15598221|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17418587|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:18435798|PMID:19012347|PMID:19059503|PMID:19161152|PMID:19293843|PMID:19370756|PMID:19396033|PMID:19839986|PMID:20200614|PMID:20301510|PMID:21683322|PMID:21883168|PMID:21895641|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:24033266|PMID:24055113|PMID:24311428|PMID:24564502|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25203624|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25637381|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:26188975|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26621581|PMID:26684006|PMID:26764160|PMID:26787436|PMID:26875674|PMID:27146836|PMID:27153395|PMID:27245183|PMID:27274304|PMID:27582083|PMID:27906200|PMID:27959697|PMID:28254189|PMID:28492532|PMID:28497567|PMID:28650953|PMID:28655553|PMID:29168297|PMID:29357934|PMID:29543232|PMID:30796334|PMID:31008308|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31506931|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:35531120|PMID:7738200|PMID:7870075|PMID:8281141|PMID:8430317|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8988160|PMID:9150726|PMID:9338588|PMID:9399842|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:0111726 geleophysic dysplasia 2 ISO RGD:731577 D RGD:7240710 20180130 OMIM 8965993 Fbn1 fibrillin 1 gene DOID:0111726 geleophysic dysplasia 2 ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852206|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:2254511|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24339047|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25142510|PMID:25326635|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26380986|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29191498|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31350823|PMID:31536524|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32009526|PMID:3212331|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33030311|PMID:33082559|PMID:33100332|PMID:33243733|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34006472|PMID:34008892|PMID:34135346|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3495735|PMID:35253369|PMID:36973604|PMID:4750422|PMID:627879|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:948948|PMID:9536098|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:10487 Hirschsprung's disease ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:26559152|PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:10573 osteomalacia ISO RGD:731578 D RGD:9068941 20200609 RGD protein:increased expression:cortical bone, trabecular bone (mouse) PMID:11159866|REF_RGD_ID:7794797 8965993 Fbn1 fibrillin 1 gene DOID:10763 hypertension ISO RGD:620908 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:16380460|REF_RGD_ID:7365080 8965993 Fbn1 fibrillin 1 gene DOID:11111 hydronephrosis ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; protein:altered expression:kidney (mouse) PMID:15277214|REF_RGD_ID:7387264 8965993 Fbn1 fibrillin 1 gene DOID:11364 lens subluxation ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lens subluxation PMID:10633129|PMID:11143906|PMID:11700157|PMID:11826022|PMID:12203987|PMID:12446365|PMID:12938084|PMID:15054843|PMID:15241795|PMID:16971892|PMID:17657824|PMID:17679947|PMID:18087243|PMID:18615205|PMID:19089573|PMID:19293843|PMID:19328768|PMID:19839986|PMID:21895641|PMID:21932315|PMID:22772377|PMID:24161884|PMID:24199744|PMID:25053872|PMID:25741868|PMID:28492532|PMID:8040326|PMID:8541880|PMID:8791520|PMID:9399842|PMID:9401003|PMID:9452085 8965993 Fbn1 fibrillin 1 gene DOID:114 heart disease ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac disease PMID:25741868 8965993 Fbn1 fibrillin 1 gene DOID:11476 osteoporosis ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:25741868 8965993 Fbn1 fibrillin 1 gene DOID:11502 mitral valve insufficiency ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitral regurgitation PMID:16571647|PMID:16905551|PMID:17657824|PMID:17701892|PMID:19293843|PMID:19349279|PMID:25741868|PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:11830 myopia ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868 8965993 Fbn1 fibrillin 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731577 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:1765782|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301500|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21135753|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:33436942|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3495735|PMID:3536967|PMID:4750422|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28611029|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:7611299|PMID:7738200|PMID:7762551 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:35535697|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10441597|PMID:10464652|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11748851|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:22772377|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24311428|PMID:24564502|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29907982|PMID:30192042|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31098894|PMID:31163209|PMID:31211626|PMID:31227806|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31837199|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:8004112|PMID:8040326|PMID:8136837|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27058611|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28166811|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30087447|PMID:30115950|PMID:30192042|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34498425|PMID:34550612|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21270786|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25974703|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14598350|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35058154|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29192238|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35058154|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29192238|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33448881|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35058154|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29192238|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33448881|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35058154|PMID:35237611|PMID:3536967|PMID:35535697|PMID:37684520|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24035709|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:26017485|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038|PMID:28254189|PMID:28277377 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29192238|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33448881|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34818515|PMID:35058154|PMID:35237611|PMID:35535697|PMID:37684520|PMID:4750422|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1438159|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:18471089|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22001912|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22438950|PMID:22539873|PMID:2254511|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23142374|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24035709|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24504995|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:26017485|PMID:26040324|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26899731|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27558095|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:2796200|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28152038 8965993 Fbn1 fibrillin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29192238|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30032985|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30796334|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31538843|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31837199|PMID:31903434|PMID:31950671|PMID:32009526|PMID:3212331|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33064175|PMID:33100332|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33243733|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33448881|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34135346|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34428338|PMID:34498425|PMID:34550612|PMID:34818515|PMID:34957211|PMID:3495735|PMID:35058154|PMID:35237611|PMID:35531120|PMID:35535697|PMID:36973604|PMID:37684520|PMID:4750422|PMID:627879|PMID:7606779|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:845663|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:948948|PMID:9525872|PMID:952872|PMID:9536098|PMID:960337|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:7240710 20180130 OMIM 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189222|PMID:10364683|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15287423|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17027361|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18379569|PMID:18412115|PMID:18435798|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20307669|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27353645|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189222|PMID:10364683|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15287423|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17027361|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18310266|PMID:18379569|PMID:18412115|PMID:18435798|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20307669|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21194821|PMID:21332468|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26498160|PMID:26621581|PMID:26684006|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27353645|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30192042|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32679894|PMID:32938213|PMID:33174221|PMID:33436942|PMID:33483584|PMID:33711475|PMID:33735269|PMID:34008892|PMID:34498425|PMID:3536967|PMID:35535697|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:26928463|PMID:27058611|PMID:27087445|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30192042|PMID:30255099|PMID:30286810|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32404357|PMID:32431097|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34498425|PMID:34550612|PMID:34663891|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15287423|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25652356|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:26928463|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27175573|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28301460|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30087447|PMID:30101859|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31506931|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32404357|PMID:32431097|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:33059708|PMID:33174221|PMID:33200202|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189089|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10404462|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11810645|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14586646|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15264290|PMID:15287423|PMID:15371449|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15770129|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16222666|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17209430|PMID:17224687|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:17984934|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:18471089|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19293848|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20085885|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20538085|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20803651|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21135753|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22144684|PMID:2219643|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539340|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23141514|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23592911|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24928929|PMID:24940037|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25646068|PMID:25652356|PMID:25656438|PMID:25729264|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26498160|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28166811|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29848614|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31825148|PMID:31830381|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25974703|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28842177|PMID:28847661|PMID:28855619|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29796325|PMID:29848614|PMID:29850152|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:33030311|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28842177|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29796325|PMID:29848614|PMID:29850152|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:34818515|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10189089|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10404462|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11810645|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14586646|PMID:14598350|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15264290|PMID:15287423|PMID:15371449|PMID:15583982|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15770129|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16222666|PMID:16273536|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17209430|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:17984934|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:18471089|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19293848|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20085885|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20538085|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20803651|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21135753|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22144684|PMID:2219643|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539340|PMID:22539873|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23141514|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23592911|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24039054|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24928929|PMID:24940037|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25646068|PMID:25652356|PMID:25656438|PMID:25729264|PMID:25736269|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28842177|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29796325|PMID:29848614|PMID:29850152|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:33844962|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:34818515|PMID:35058154|PMID:35237611|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28842177|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29191498|PMID:29192238|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29796325|PMID:29848614|PMID:29850152|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31350823|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:33844962|PMID:34006472|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:34818515|PMID:35058154|PMID:35237611|PMID:35253369|PMID:3536967|PMID:35535697|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26026792|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28842177|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29191498|PMID:29192238|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29796325|PMID:29848614|PMID:29850152|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31350823|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31589614|PMID:31605817|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32884772|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33082559|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33448881|PMID:33483584|PMID:33495528|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:33844962|PMID:34006472|PMID:34008892|PMID:34122512|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34550612|PMID:34663891|PMID:34818515|PMID:35058154|PMID:35237611|PMID:35253369|PMID:3536967|PMID:35535697|PMID:37684520|PMID:4750422|PMID:6220557|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751|PMID:8430317|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:9525872|PMID:952872|PMID:9536098|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:10090557|PMID:10090884|PMID:10189089|PMID:10189222|PMID:10198291|PMID:10229672|PMID:10364683|PMID:10404462|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:10930463|PMID:10942427|PMID:11059536|PMID:11068200|PMID:11071382|PMID:11104663|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11251996|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11453977|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11706995|PMID:11710961|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11810645|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11880731|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12130534|PMID:12130535|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12413333|PMID:12446365|PMID:12511552|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:1413547|PMID:14586646|PMID:14695540|PMID:15032979|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15264290|PMID:15287423|PMID:15371449|PMID:15583982|PMID:15598221|PMID:15649891|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15770129|PMID:15821637|PMID:15880509|PMID:15980072|PMID:15983637|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16222666|PMID:1631074|PMID:16333834|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17027361|PMID:17209430|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17366579|PMID:17418587|PMID:17449467|PMID:17492313|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:17984934|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18379569|PMID:18412115|PMID:18435798|PMID:18471089|PMID:1852206|PMID:1852208|PMID:18615205|PMID:18795226|PMID:18925407|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:1929384|PMID:19293843|PMID:19293848|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19763152|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20085885|PMID:20132243|PMID:20135580|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20307669|PMID:20375004|PMID:20538085|PMID:20564469|PMID:20591885|PMID:20699357|PMID:20803651|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21063442|PMID:21135753|PMID:21194821|PMID:21332468|PMID:21360310|PMID:21542060|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22034023|PMID:22140025|PMID:22144684|PMID:2219643|PMID:22216297|PMID:22262941|PMID:22393277|PMID:22406018|PMID:22539340|PMID:22539873|PMID:2254511|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23133647|PMID:23141514|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23592911|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:23897642|PMID:24033266|PMID:24035709|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24220124|PMID:24296667|PMID:24311428|PMID:24339047|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24610719|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24759409|PMID:24793577|PMID:24833718|PMID:24928929|PMID:24940037|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25304743|PMID:25320358|PMID:25326635|PMID:25447171|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25613431|PMID:25636182|PMID:25637381|PMID:25640679|PMID:25644172|PMID:25646068|PMID:25652356|PMID:25656438|PMID:25729264 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:25979247|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26221284|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26380986|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26747767|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27085269|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27245183|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27527004|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27884935|PMID:27893734|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27935852|PMID:27959697|PMID:2796200|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28168077|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28391405|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28588436|PMID:28596305|PMID:28611029|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28842177|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29191498|PMID:29192238|PMID:29237689|PMID:29357934|PMID:29386531|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29620724|PMID:29768367|PMID:2976867|PMID:29796325|PMID:29848614|PMID:29850152|PMID:29875124|PMID:29896744|PMID:29907982|PMID:30008475|PMID:30019023|PMID:30032985|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30076350|PMID:30087447|PMID:30101859|PMID:30115950|PMID:30192042|PMID:30255099|PMID:30286810|PMID:30293248|PMID:30341550|PMID:30371227|PMID:30431218|PMID:30479897|PMID:30485715|PMID:30513137|PMID:30534251|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30773290|PMID:30775854|PMID:30796334|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31053350|PMID:31053375|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31131229|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31238364|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31350823|PMID:31471346|PMID:31506931|PMID:31527767|PMID:31536524|PMID:31538843|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31727422|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32009526|PMID:3212331|PMID:32123317|PMID:32381728|PMID:32404357|PMID:32406602|PMID:32431097|PMID:32442321|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:3282918|PMID:32884772|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33064175|PMID:33082559|PMID:33100332|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33243733|PMID:33282382|PMID:33394117|PMID:33414558|PMID:33436942|PMID:33448881|PMID:33483584|PMID:33495528|PMID:33576469|PMID:33578525|PMID:33665530|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:33844962|PMID:34006472|PMID:34008892|PMID:34122512|PMID:34135346|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34428338|PMID:34456093|PMID:34498425|PMID:34550612|PMID:34628919|PMID:34663891|PMID:34818515|PMID:34957211|PMID:3495735|PMID:35008861|PMID:35058154|PMID:35237611|PMID:35253369|PMID:35531120|PMID:35535697|PMID:35612688|PMID:36449672|PMID:36517271|PMID:36973604|PMID:3762201|PMID:37684520|PMID:4750422|PMID:6220557|PMID:627879|PMID:7611299|PMID:7633409|PMID:7738200|PMID:7762551|PMID:7778680|PMID:7802039|PMID:7842017|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8101042|PMID:8111384|PMID:8136837|PMID:8180508|PMID:8188302|PMID:8281141|PMID:8353424|PMID:8406497|PMID:8428751 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MARFAN SYNDROME, TYPE I | ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan syndrome, atypical | ClinVar Annotator: match by term: Marfan syndrome, incomplete | ClinVar Annotator: match by term: Marfan syndrome, mild variable | ClinVar Annotator: match by term: Marfan syndrome, severe classic | ClinVar Annotator: match by term: Marfan's syndrome | ClinVar Annotator: match by term: Neonatal Marfan syndrome PMID:8430317|PMID:845663|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8743989|PMID:8750301|PMID:8791520|PMID:8863159|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9254848|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:948948|PMID:9525872|PMID:952872|PMID:9536098|PMID:960337|PMID:9817919|PMID:9837823|PMID:9876915|PMID:9887276 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome severity ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:26787436|REF_RGD_ID:12910485 8965993 Fbn1 fibrillin 1 gene DOID:14323 Marfan syndrome treatment ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:25613431|REF_RGD_ID:12910135 8965993 Fbn1 fibrillin 1 gene DOID:1909 melanoma ISO RGD:731577 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Melanoma PMID:10533071|PMID:10874320|PMID:11700157|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:24033266|PMID:24161884|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:37684520|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 8965993 Fbn1 fibrillin 1 gene DOID:2018 hyperinsulinism ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 8965993 Fbn1 fibrillin 1 gene DOID:2340 craniosynostosis ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:31837199 8965993 Fbn1 fibrillin 1 gene DOID:2717 Bloom syndrome ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:289 endometriosis ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8965993 Fbn1 fibrillin 1 gene DOID:2921 glomerulonephritis ISO RGD:620908 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal glomerulus (rat) PMID:16282705|REF_RGD_ID:7387262 8965993 Fbn1 fibrillin 1 gene DOID:2921 glomerulonephritis ISO RGD:620908 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex, renal glomerulus (rat) PMID:16395273|REF_RGD_ID:7365077 8965993 Fbn1 fibrillin 1 gene DOID:3492 mixed connective tissue disease ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:10395706|REF_RGD_ID:12910471 8965993 Fbn1 fibrillin 1 gene DOID:3526 cerebral infarction ISO RGD:731577 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:10533071|PMID:10874320|PMID:11700157|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:24033266|PMID:24161884|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:37684520|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 8965993 Fbn1 fibrillin 1 gene DOID:3627 aortic aneurysm ISO RGD:731577 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ascending aortic dilation PMID:10464652|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12938084|PMID:14695540|PMID:15241795|PMID:17627385|PMID:17657824|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26333736|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:29875124|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425 8965993 Fbn1 fibrillin 1 gene DOID:3627 aortic aneurysm severity ISO RGD:731578 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C1039G (mouse) PMID:24071006|REF_RGD_ID:7365039 8965993 Fbn1 fibrillin 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:23806086|PMID:24088041|PMID:25736269 8965993 Fbn1 fibrillin 1 gene DOID:418 systemic scleroderma ISO RGD:731577 D RGD:9068941 20200609 RGD PMID:10395706|REF_RGD_ID:12910471 8965993 Fbn1 fibrillin 1 gene DOID:418 systemic scleroderma ISO RGD:731578 D RGD:9068941 20200609 RGD PMID:11123012|REF_RGD_ID:7387265 8965993 Fbn1 fibrillin 1 gene DOID:418 systemic scleroderma ISO RGD:731578 D RGD:9068941 20220825 MouseDO OMIM:181750 8965993 Fbn1 fibrillin 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:731577 D RGD:9068941 20200609 RGD DNA:insertion:5' utr PMID:12384286|REF_RGD_ID:12904889 8965993 Fbn1 fibrillin 1 gene DOID:4195 hyperglycemia ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20836762 8965993 Fbn1 fibrillin 1 gene DOID:423 myopathy ISO RGD:731577 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Myopathy PMID:20886638|PMID:25741868 8965993 Fbn1 fibrillin 1 gene DOID:4480 achondroplasia ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achondroplasia PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25741868|PMID:28492532|PMID:28855619 8965993 Fbn1 fibrillin 1 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:620908 D RGD:9068941 20200609 RGD mRNA:increased expression:cortex of kidney PMID:25482639|REF_RGD_ID:12910487 8965993 Fbn1 fibrillin 1 gene DOID:5082 liver cirrhosis ISO RGD:620908 D RGD:9068941 20200609 RGD PMID:14661032|REF_RGD_ID:12910489 8965993 Fbn1 fibrillin 1 gene DOID:5082 liver cirrhosis ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8965993 Fbn1 fibrillin 1 gene DOID:5199 ureteral obstruction ISO RGD:731578 D RGD:9068941 20200609 RGD protein:increased expression:kidney (mouse) PMID:17200203|REF_RGD_ID:7365047 8965993 Fbn1 fibrillin 1 gene DOID:5199 ureteral obstruction treatment ISO RGD:731578 D RGD:9068941 20200609 RGD PMID:17200203|REF_RGD_ID:7365047 8965993 Fbn1 fibrillin 1 gene DOID:520 aortic disease ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortopathy 8965993 Fbn1 fibrillin 1 gene DOID:57 aortic valve insufficiency ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic regurgitation PMID:25741868|PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:630 genetic disease ISO RGD:731577 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11139245|PMID:11700157|PMID:14695540|PMID:15161917|PMID:16571647|PMID:16905551|PMID:17523150|PMID:17576681|PMID:17657824|PMID:17701892|PMID:1852206|PMID:19002209|PMID:19159394|PMID:19293843|PMID:19349279|PMID:20564469|PMID:20886638|PMID:21683322|PMID:21895641|PMID:21907952|PMID:22772377|PMID:23684891|PMID:24033266|PMID:24199744|PMID:24220124|PMID:24339047|PMID:24665001|PMID:24793577|PMID:25741868|PMID:25907466|PMID:25944730|PMID:25979247|PMID:26380986|PMID:26787436|PMID:27112580|PMID:27935852|PMID:28492532|PMID:28655553|PMID:29191498|PMID:29357934|PMID:29620724|PMID:31211624|PMID:31227806|PMID:31350823|PMID:31589614|PMID:32679894|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33082559|PMID:34006472|PMID:34428338|PMID:35253369|PMID:8653794|PMID:8941093|PMID:9236141|PMID:9452033|PMID:9536098 8965993 Fbn1 fibrillin 1 gene DOID:65 connective tissue disease ISO RGD:731577 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10229672|PMID:10464652|PMID:11315929|PMID:11524736|PMID:11826022|PMID:11875032|PMID:11933199|PMID:12161601|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:16220557|PMID:17253931|PMID:17657824|PMID:17663468|PMID:19293843|PMID:19370756|PMID:19533785|PMID:20200614|PMID:20564469|PMID:20979188|PMID:21683322|PMID:21895641|PMID:21907952|PMID:23608731|PMID:23653584|PMID:24033266|PMID:24035709|PMID:24055113|PMID:24311428|PMID:24793577|PMID:24941995|PMID:25637381|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25839328|PMID:25944730|PMID:26269718|PMID:26332594|PMID:26633542|PMID:26684006|PMID:26787436|PMID:27175573|PMID:27245183|PMID:27647783|PMID:28254189|PMID:28492532|PMID:28497567|PMID:28650953|PMID:28941062|PMID:29357934|PMID:29848614|PMID:29875124|PMID:31008308|PMID:31098894|PMID:31211626|PMID:31227806|PMID:31322791|PMID:31730815|PMID:32009526|PMID:32989268|PMID:33064175|PMID:33448881|PMID:34150014|PMID:34550612|PMID:35237611|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8430317|PMID:8563763|PMID:8988160|PMID:9150726|PMID:9338588|PMID:960337|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:83 cataract ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:10533071|PMID:24033266|PMID:24740214|PMID:25203624|PMID:25741868|PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:9000073 Metaphyseal Chondrodysplasia ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia PMID:21683322|PMID:25741868|PMID:27245183|PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:9001224 Striae Distensae ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Striae distensae PMID:25741868 8965993 Fbn1 fibrillin 1 gene DOID:9001464 Weill-Marchesani Syndrome 2 ISO RGD:731577 D RGD:7240710 20180822 OMIM 8965993 Fbn1 fibrillin 1 gene DOID:9001464 Weill-Marchesani Syndrome 2 ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12525539|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:1852208|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:2254511|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25326635|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:2796200|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32009526|PMID:3212331|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33030311|PMID:33100332|PMID:33243733|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34135346|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:34957211|PMID:3495735|PMID:36973604|PMID:4750422|PMID:627879|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:948948|PMID:9536098|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:9001510 Funnel Chest ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868 8965993 Fbn1 fibrillin 1 gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:25741868 8965993 Fbn1 fibrillin 1 gene DOID:9001542 Albuminuria ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16380460|REF_RGD_ID:7365080 8965993 Fbn1 fibrillin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8965993 Fbn1 fibrillin 1 gene DOID:9001665 Aneurysm ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:25741868 8965993 Fbn1 fibrillin 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 8965993 Fbn1 fibrillin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16380460|REF_RGD_ID:7365080 8965993 Fbn1 fibrillin 1 gene DOID:9002165 Diabetic Nephropathies onset ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16395273|REF_RGD_ID:7365077 8965993 Fbn1 fibrillin 1 gene DOID:9002189 High Myopia ISO RGD:731577 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: High myopia PMID:10464652|PMID:10533071|PMID:10874320|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12938084|PMID:14695540|PMID:15241795|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21542060|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26133393|PMID:26333736|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:29875124|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425|PMID:37684520|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 8965993 Fbn1 fibrillin 1 gene DOID:9002884 Emphysema ISO RGD:731578 D RGD:9068941 20200609 RGD associated with Marfan Syndrome PMID:12598898|REF_RGD_ID:1300319 8965993 Fbn1 fibrillin 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:620908 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:myocardium PMID:15849235|REF_RGD_ID:1601147 8965993 Fbn1 fibrillin 1 gene DOID:9003326 Perrault Syndrome 1 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 PMID:25741868 8965993 Fbn1 fibrillin 1 gene DOID:9004080 Aortic Rupture ISO RGD:731577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18178469 8965993 Fbn1 fibrillin 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:10189222|PMID:10198291|PMID:10229672|PMID:10425041|PMID:10441597|PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:10647894|PMID:10679954|PMID:10694921|PMID:10721679|PMID:10756346|PMID:10766875|PMID:10874320|PMID:11059536|PMID:11068200|PMID:11108952|PMID:11137998|PMID:11139245|PMID:11143906|PMID:11170092|PMID:11175294|PMID:11278305|PMID:11315929|PMID:11391655|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11722462|PMID:11748851|PMID:11780406|PMID:11826022|PMID:11829507|PMID:11875032|PMID:11933199|PMID:11967553|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12651868|PMID:12700307|PMID:12938084|PMID:1301946|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15221638|PMID:15241795|PMID:15598221|PMID:1569206|PMID:15733436|PMID:15743917|PMID:15821637|PMID:15880509|PMID:15980072|PMID:16061422|PMID:16199547|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16476890|PMID:16571647|PMID:16596670|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:16995940|PMID:17024364|PMID:17224687|PMID:17242066|PMID:17253931|PMID:1729284|PMID:17324963|PMID:17418587|PMID:17449467|PMID:17503327|PMID:17568394|PMID:17576681|PMID:17618372|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17680538|PMID:17701892|PMID:17718856|PMID:17726045|PMID:17850668|PMID:17884807|PMID:18079676|PMID:18087243|PMID:18354149|PMID:18435798|PMID:1852208|PMID:18615205|PMID:19002209|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19117906|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19336958|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19390640|PMID:19396033|PMID:19446531|PMID:19533785|PMID:19561590|PMID:19618372|PMID:19659760|PMID:19720936|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20082464|PMID:20200614|PMID:20301510|PMID:2030732|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21034599|PMID:21135753|PMID:21332468|PMID:21542060|PMID:21594993|PMID:21683322|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:22005308|PMID:22140025|PMID:22262941|PMID:22539873|PMID:2254511|PMID:22736615|PMID:22772377|PMID:22876116|PMID:22913777|PMID:22950452|PMID:23278365|PMID:23505274|PMID:23506379|PMID:23577066|PMID:23590259|PMID:23608731|PMID:23653584|PMID:23684891|PMID:23719250|PMID:23744319|PMID:23794388|PMID:24033266|PMID:24035709|PMID:24055113|PMID:24078565|PMID:24161884|PMID:24199744|PMID:24296667|PMID:24311428|PMID:24501682|PMID:24564502|PMID:24568996|PMID:24613577|PMID:24635535|PMID:24665001|PMID:24698609|PMID:24740214|PMID:24793577|PMID:24833718|PMID:24941995|PMID:24982166|PMID:25053872|PMID:25101912|PMID:25203624|PMID:25320358|PMID:25326635|PMID:25504618|PMID:25519456|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25656438|PMID:25741868|PMID:25812041|PMID:25834947|PMID:25839328|PMID:25852444|PMID:25863307|PMID:25900864|PMID:25907466|PMID:25944730|PMID:25966184|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26281765|PMID:26332594|PMID:26333736|PMID:26410935|PMID:26423924|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26633542|PMID:26684006|PMID:26741492|PMID:26764160|PMID:26770496|PMID:26787436|PMID:26796135|PMID:26875674|PMID:26928463|PMID:27011056|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27160103|PMID:27175573|PMID:27229674|PMID:27234404|PMID:27274304|PMID:27323140|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27479044|PMID:27582083|PMID:27611364|PMID:27625872|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27914124|PMID:27930701|PMID:27959697|PMID:2796200|PMID:28027854|PMID:28050602|PMID:28054583|PMID:28087566|PMID:28098115|PMID:28117189|PMID:28254189|PMID:28277377|PMID:28301460|PMID:28321935|PMID:28333917|PMID:28387797|PMID:28468757|PMID:28492532|PMID:28497567|PMID:28539832|PMID:28550590|PMID:28611029|PMID:28636274 8965993 Fbn1 fibrillin 1 gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28706299|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28944857|PMID:28973303|PMID:28991257|PMID:29168297|PMID:29192238|PMID:29357934|PMID:29453956|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30019023|PMID:30032985|PMID:30056620|PMID:30057829|PMID:30087447|PMID:30115950|PMID:30255099|PMID:30341550|PMID:30371227|PMID:30485715|PMID:30513137|PMID:30542390|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30775854|PMID:30796334|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31061752|PMID:31098894|PMID:31106028|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31279624|PMID:31279664|PMID:31296287|PMID:31322791|PMID:31471346|PMID:31506931|PMID:31536524|PMID:31538843|PMID:31589614|PMID:31605817|PMID:31708711|PMID:31730815|PMID:31751304|PMID:31754721|PMID:31774634|PMID:31825148|PMID:31830381|PMID:31903434|PMID:31950671|PMID:32009526|PMID:3212331|PMID:32123317|PMID:32381728|PMID:32431097|PMID:32531870|PMID:32655337|PMID:32679894|PMID:32730690|PMID:32938213|PMID:32939518|PMID:32989268|PMID:33030311|PMID:33059708|PMID:33064175|PMID:33100332|PMID:33174221|PMID:33200202|PMID:33230159|PMID:33243733|PMID:33282382|PMID:33394117|PMID:33436942|PMID:33448881|PMID:33483584|PMID:33495528|PMID:33711475|PMID:33735269|PMID:33775534|PMID:33824467|PMID:34008892|PMID:34122512|PMID:34135346|PMID:34140103|PMID:34150014|PMID:34281902|PMID:34422331|PMID:34428338|PMID:34498425|PMID:34550612|PMID:34818515|PMID:34957211|PMID:3495735|PMID:35058154|PMID:35237611|PMID:35531120|PMID:35535697|PMID:36973604|PMID:37684520|PMID:4750422|PMID:627879|PMID:7611299|PMID:7738200|PMID:7762551|PMID:7802039|PMID:7870075|PMID:7896820|PMID:7911051|PMID:7951214|PMID:7977366|PMID:8004112|PMID:8040255|PMID:8040326|PMID:8071963|PMID:8136837|PMID:8188302|PMID:8281141|PMID:8406497|PMID:8430317|PMID:845663|PMID:8504310|PMID:8541880|PMID:8563763|PMID:8653794|PMID:8723076|PMID:8791520|PMID:8880577|PMID:8882780|PMID:8884270|PMID:8894692|PMID:8941093|PMID:8988160|PMID:9016526|PMID:9101298|PMID:9150726|PMID:9236141|PMID:9241263|PMID:9338581|PMID:9338588|PMID:9362480|PMID:9399842|PMID:9401003|PMID:9452033|PMID:9452085|PMID:9477945|PMID:948948|PMID:9525872|PMID:952872|PMID:9536098|PMID:960337|PMID:9817919|PMID:9837823|PMID:9876915 8965993 Fbn1 fibrillin 1 gene DOID:9004201 Ectopia Lentis ISO RGD:731577 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ectopia lentis PMID:10533071|PMID:10633129|PMID:10874320|PMID:11700157|PMID:11992479|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17418587|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:21895641|PMID:23577066|PMID:24033266|PMID:24161884|PMID:24793577|PMID:24941995|PMID:25326635|PMID:25504618|PMID:25741868|PMID:25812041|PMID:25852444|PMID:26133393|PMID:26787436|PMID:26875674|PMID:27906200|PMID:27959697|PMID:28492532|PMID:29357934|PMID:29543232|PMID:30796334|PMID:31098894|PMID:31211626|PMID:31227806|PMID:32123317|PMID:37684520|PMID:7611299|PMID:7870075|PMID:8653794|PMID:8723076|PMID:8894692|PMID:9399842|PMID:9401003|PMID:9536098|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:731577 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:25741868|PMID:26559152|PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:9004665 Pectus Carinatum ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pectus carinatum PMID:25741868 8965993 Fbn1 fibrillin 1 gene DOID:9005077 Joint Instability ISO RGD:731577 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10464652|PMID:11700157|PMID:11933199|PMID:12203987|PMID:12203992|PMID:12938084|PMID:14695540|PMID:15241795|PMID:17627385|PMID:17657824|PMID:19159394|PMID:19293843|PMID:20301510|PMID:21907952|PMID:24033266|PMID:24161884|PMID:24833718|PMID:25741868|PMID:25907466|PMID:26333736|PMID:27146836|PMID:27274304|PMID:27611364|PMID:27724990|PMID:28492532|PMID:28855619|PMID:29357934|PMID:29875124|PMID:30675029|PMID:30739908|PMID:31098894|PMID:31211626|PMID:31751304|PMID:31950671|PMID:32679894|PMID:34498425 8965993 Fbn1 fibrillin 1 gene DOID:9005367 Arachnodactyly ISO RGD:731577 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Arachnodactyly PMID:10533071|PMID:10633129|PMID:10874320|PMID:11143906|PMID:11700157|PMID:11826022|PMID:12203987|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15241795|PMID:16220557|PMID:16222657|PMID:16835936|PMID:16971892|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:17679947|PMID:18087243|PMID:18615205|PMID:19089573|PMID:19159394|PMID:19293843|PMID:19328768|PMID:19839986|PMID:21542060|PMID:21895641|PMID:21932315|PMID:22772377|PMID:24033266|PMID:24161884|PMID:24199744|PMID:25053872|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:37684520|PMID:7611299|PMID:8040326|PMID:8541880|PMID:8791520|PMID:8894692|PMID:9399842|PMID:9401003|PMID:9452085|PMID:9536098 8965993 Fbn1 fibrillin 1 gene DOID:9005492 Marfan Lipodystrophy Syndrome ISO RGD:731577 D RGD:7240710 20190315 OMIM 8965993 Fbn1 fibrillin 1 gene DOID:9005492 Marfan Lipodystrophy Syndrome ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: Marfan lipodystrophy syndrome PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11139245|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:20979188|PMID:21542060|PMID:21594992|PMID:21594993|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:2254511|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24039054|PMID:24161884|PMID:24199744|PMID:24613577|PMID:24665001|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25326635|PMID:25525159|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27087445|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32009526|PMID:3212331|PMID:32123317|PMID:32431097|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33100332|PMID:33243733|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34135346|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3495735|PMID:36973604|PMID:4750422|PMID:627879|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:948948|PMID:9536098|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620908 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:16380460|REF_RGD_ID:7365080 8965993 Fbn1 fibrillin 1 gene DOID:9005890 Disproportionate Tall Stature ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:10633129|PMID:11992479|PMID:17418587|PMID:17627385|PMID:17657824|PMID:21895641|PMID:23577066|PMID:24033266|PMID:24941995|PMID:25326635|PMID:25741868|PMID:25812041|PMID:25852444|PMID:26787436|PMID:26875674|PMID:27959697|PMID:28492532|PMID:31211626|PMID:32123317|PMID:7870075|PMID:8653794|PMID:8723076|PMID:9399842|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:9006768 Beaulieu-Boycott-Innes Syndrome ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome PMID:15241795|PMID:16571647|PMID:16905551|PMID:17701892|PMID:18435798|PMID:19293843|PMID:19349279|PMID:25741868|PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:9007096 Stroke ISO RGD:731577 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10533071|PMID:10874320|PMID:11700157|PMID:12402346|PMID:12938084|PMID:14695540|PMID:16220557|PMID:16222657|PMID:16835936|PMID:17253931|PMID:17576681|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:21542060|PMID:24033266|PMID:24161884|PMID:25741868|PMID:26133393|PMID:28492532|PMID:29357934|PMID:31098894|PMID:37684520|PMID:7611299|PMID:8894692|PMID:9401003|PMID:9536098 8965993 Fbn1 fibrillin 1 gene DOID:9007529 Marfan Syndrome, Autosomal Recessive ISO RGD:731577 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan syndrome, autosomal recessive PMID:16342915|PMID:17568394|PMID:19293843|PMID:19839986|PMID:23278365|PMID:24033266|PMID:24161884|PMID:24793577|PMID:25652356|PMID:25741868|PMID:26272055|PMID:26787436|PMID:28492532|PMID:30485715|PMID:30739908|PMID:31830381|PMID:33394117|PMID:33711475|PMID:33824467|PMID:9477945 8965993 Fbn1 fibrillin 1 gene DOID:9007573 Flatfoot ISO RGD:731577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pes planus PMID:20564469|PMID:24161884|PMID:25741868|PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:9007661 Dwarfism ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:21683322|PMID:25741868|PMID:27245183|PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:9007706 MASS Syndrome ISO RGD:731577 D RGD:7240710 20180130 OMIM 8965993 Fbn1 fibrillin 1 gene DOID:9007706 MASS Syndrome ISO RGD:731577 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: Overlap connective tissue disease PMID:10464652|PMID:10486319|PMID:10533071|PMID:10612827|PMID:10633129|PMID:11068200|PMID:11143906|PMID:11175294|PMID:11315929|PMID:11524736|PMID:11700157|PMID:11702223|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12068374|PMID:12161601|PMID:12203987|PMID:12203992|PMID:12402346|PMID:12446365|PMID:12938084|PMID:14695540|PMID:15054843|PMID:15062093|PMID:15161917|PMID:15241795|PMID:1569206|PMID:15880509|PMID:15980072|PMID:16220557|PMID:16222657|PMID:16342915|PMID:16571647|PMID:16677079|PMID:16756980|PMID:16765689|PMID:16835936|PMID:16905551|PMID:16971892|PMID:17242066|PMID:17253931|PMID:17418587|PMID:17503327|PMID:17576681|PMID:17627385|PMID:17657824|PMID:17663468|PMID:17679947|PMID:17701892|PMID:17718856|PMID:18079676|PMID:18087243|PMID:18435798|PMID:18615205|PMID:19012347|PMID:19059503|PMID:19089573|PMID:19159394|PMID:19161152|PMID:19293843|PMID:19328768|PMID:19349279|PMID:19353630|PMID:19370756|PMID:19533785|PMID:19618372|PMID:19780835|PMID:19802897|PMID:19839986|PMID:19863550|PMID:19941982|PMID:2005308|PMID:20301510|PMID:20375004|PMID:20564469|PMID:20699357|PMID:20886638|PMID:21542060|PMID:21784848|PMID:21883168|PMID:21895641|PMID:21907952|PMID:21932315|PMID:2254511|PMID:22772377|PMID:22950452|PMID:23278365|PMID:23506379|PMID:23577066|PMID:23608731|PMID:23684891|PMID:23719250|PMID:23794388|PMID:24033266|PMID:24161884|PMID:24199744|PMID:24793577|PMID:24833718|PMID:24941995|PMID:25053872|PMID:25101912|PMID:25326635|PMID:25504618|PMID:25637381|PMID:25644172|PMID:25652356|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25900864|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26188975|PMID:26214305|PMID:26269718|PMID:26272055|PMID:26272908|PMID:26333736|PMID:26498160|PMID:26559152|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27058611|PMID:27106435|PMID:27112580|PMID:27146836|PMID:27153395|PMID:27234404|PMID:27274304|PMID:27353645|PMID:27382527|PMID:2739055|PMID:27437668|PMID:27582083|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27906200|PMID:27930701|PMID:27959697|PMID:28050602|PMID:28087566|PMID:28098115|PMID:28301460|PMID:28468757|PMID:28492532|PMID:28539832|PMID:28550590|PMID:28636274|PMID:28642162|PMID:28650953|PMID:28655553|PMID:28659821|PMID:28847661|PMID:28855619|PMID:28901506|PMID:28941062|PMID:28973303|PMID:29357934|PMID:29510914|PMID:29543232|PMID:29768367|PMID:29848614|PMID:29875124|PMID:29907982|PMID:30048161|PMID:30056620|PMID:30057829|PMID:30341550|PMID:30513137|PMID:30653986|PMID:30675029|PMID:30739908|PMID:30796334|PMID:30838813|PMID:31008308|PMID:31020005|PMID:31098894|PMID:31163209|PMID:31167969|PMID:31211624|PMID:31211626|PMID:31227806|PMID:31605817|PMID:31730815|PMID:31751304|PMID:31774634|PMID:31825148|PMID:31903434|PMID:31950671|PMID:32009526|PMID:3212331|PMID:32123317|PMID:32679894|PMID:32730690|PMID:32939518|PMID:33100332|PMID:33243733|PMID:33282382|PMID:33436942|PMID:33483584|PMID:33824467|PMID:34008892|PMID:34135346|PMID:34281902|PMID:34422331|PMID:34498425|PMID:34818515|PMID:3495735|PMID:36973604|PMID:4750422|PMID:627879|PMID:7802039|PMID:7870075|PMID:8004112|PMID:8040326|PMID:8541880|PMID:8653794|PMID:8723076|PMID:8791520|PMID:9338581|PMID:9399842|PMID:9401003|PMID:9452085|PMID:948948|PMID:9536098|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:31837199 8965993 Fbn1 fibrillin 1 gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:731577 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 1 | ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:10633129|PMID:11524736|PMID:11748851|PMID:11826022|PMID:11933199|PMID:11992479|PMID:12938084|PMID:14695540|PMID:16222657|PMID:17418587|PMID:17618372|PMID:17627385|PMID:17657824|PMID:18435798|PMID:19161152|PMID:19293843|PMID:19618372|PMID:19863550|PMID:20082464|PMID:21542060|PMID:21895641|PMID:23506379|PMID:23577066|PMID:24033266|PMID:24793577|PMID:24941995|PMID:25101912|PMID:25326635|PMID:25637381|PMID:25741868|PMID:25812041|PMID:25852444|PMID:25907466|PMID:26272055|PMID:26621581|PMID:26787436|PMID:26875674|PMID:27112580|PMID:27153395|PMID:27582083|PMID:27959697|PMID:28492532|PMID:28655553|PMID:28659821|PMID:29357934|PMID:29543232|PMID:30371227|PMID:31211626|PMID:31227806|PMID:31506931|PMID:32123317|PMID:35058154|PMID:7870075|PMID:8653794|PMID:8723076|PMID:9399842|PMID:9837823 8965993 Fbn1 fibrillin 1 gene DOID:9008691 Liver Injury ISO RGD:620908 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:24359594|REF_RGD_ID:7794798 8965993 Fbn1 fibrillin 1 gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 PMID:25741868|PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:9256 colorectal cancer ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8965993 Fbn1 fibrillin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620908 D RGD:9068941 20200609 RGD PMID:20836762|REF_RGD_ID:7257556 8965993 Fbn1 fibrillin 1 gene DOID:988 mitral valve prolapse ISO RGD:731577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:25741868 8966062 Tm6sf1 transmembrane 6 superfamily member 1 gene DOID:13938 amenorrhea ISO RGD:1317482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8966062 Tm6sf1 transmembrane 6 superfamily member 1 gene DOID:2717 Bloom syndrome ISO RGD:1317482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8966062 Tm6sf1 transmembrane 6 superfamily member 1 gene DOID:630 genetic disease ISO RGD:1317482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966062 Tm6sf1 transmembrane 6 superfamily member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8966062 Tm6sf1 transmembrane 6 superfamily member 1 gene DOID:9256 colorectal cancer ISO RGD:1317482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8966075 Rpsa ribosomal protein SA gene DOID:0110074 arrhythmogenic right ventricular dysplasia 5 ISO RGD:1615177 D RGD:9068941 20220825 MouseDO OMIM:604400 8966075 Rpsa ribosomal protein SA gene DOID:11446 sciatic neuropathy ISO RGD:71026 D RGD:9068941 20200609 RGD PMID:19196078|REF_RGD_ID:11041651 8966075 Rpsa ribosomal protein SA gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1615177 D RGD:9068941 20220825 MouseDO OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 8966075 Rpsa ribosomal protein SA gene DOID:3910 lung adenocarcinoma ISO RGD:1344885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8966075 Rpsa ribosomal protein SA gene DOID:9000039 Spinal Cord Injuries ISO RGD:71026 D RGD:9068941 20200609 RGD PMID:19196078|REF_RGD_ID:11041651 8966075 Rpsa ribosomal protein SA gene DOID:9003735 Splenic Hypoplasia ISO RGD:1344885 D RGD:7240710 20180130 OMIM 8966075 Rpsa ribosomal protein SA gene DOID:9003735 Splenic Hypoplasia ISO RGD:1344885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asplenia, isolated congenital PMID:20846672|PMID:22560297|PMID:23579497|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9162158 8966075 Rpsa ribosomal protein SA gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 8966075 Rpsa ribosomal protein SA gene DOID:9006205 Animal Disease Models ISO RGD:1344885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8966075 Rpsa ribosomal protein SA gene DOID:9778 irritable bowel syndrome ISO RGD:71026 D RGD:9068941 20200609 RGD PMID:20461717|REF_RGD_ID:5686874 8966087 Naf1 nuclear assembly factor 1 ribonucleoprotein gene DOID:1909 melanoma ISO RGD:1606990 D RGD:9068941 20220610 RGD DNA:SNP:cds:rs7675988 (human) PMID:25231748|REF_RGD_ID:152995261 8966087 Naf1 nuclear assembly factor 1 ribonucleoprotein gene DOID:3770 pulmonary fibrosis ISO RGD:1606990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25741868 8966087 Naf1 nuclear assembly factor 1 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1606990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8966087 Naf1 nuclear assembly factor 1 ribonucleoprotein gene DOID:9005771 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7 ISO RGD:1606990 D RGD:7240710 20230517 OMIM 8966087 Naf1 nuclear assembly factor 1 ribonucleoprotein gene DOID:9005771 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7 ISO RGD:1606990 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 PMID:27510903 8966127 Fubp3 far upstream element binding protein 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8966127 Fubp3 far upstream element binding protein 3 gene DOID:630 genetic disease ISO RGD:1315940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966127 Fubp3 far upstream element binding protein 3 gene DOID:9273 citrullinemia ISO RGD:1315940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 8966159 Hivep1 HIVEP zinc finger 1 gene DOID:1826 epilepsy ISO RGD:736425 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8966159 Hivep1 HIVEP zinc finger 1 gene DOID:2661 myoepithelioma ISO RGD:736425 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8966159 Hivep1 HIVEP zinc finger 1 gene DOID:630 genetic disease ISO RGD:736425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966172 Csnk1e casein kinase 1 epsilon gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8966172 Csnk1e casein kinase 1 epsilon gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 8966172 Csnk1e casein kinase 1 epsilon gene DOID:0090036 myoclonic dystonia 26 ISO RGD:732829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8966172 Csnk1e casein kinase 1 epsilon gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8966172 Csnk1e casein kinase 1 epsilon gene DOID:10652 Alzheimer's disease ISO RGD:732829 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus: PMID:10514399|REF_RGD_ID:10395229 8966172 Csnk1e casein kinase 1 epsilon gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8966172 Csnk1e casein kinase 1 epsilon gene DOID:3008 invasive ductal carcinoma ISO RGD:732829 D RGD:9068941 20200609 RGD DNA:mutation:CDS:multiple nonsynonymous mutations PMID:14871824|REF_RGD_ID:2306813 8966172 Csnk1e casein kinase 1 epsilon gene DOID:630 genetic disease ISO RGD:732829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966172 Csnk1e casein kinase 1 epsilon gene DOID:9000064 Cardiac Arrhythmias ISO RGD:732829 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 8966209 Calm2 calmodulin 2 gene DOID:0080600 COVID-19 ISO RGD:736342 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8966209 Calm2 calmodulin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:23388215|PMID:24917665|PMID:25741868|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27516456|PMID:28335032|PMID:28492532|PMID:31283864 8966209 Calm2 calmodulin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:736342 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:17576681|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26969752|PMID:27516456|PMID:27765793|PMID:28492532|PMID:9536098 8966209 Calm2 calmodulin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:736342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:11569915|PMID:17576681|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27374306|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30348784|PMID:30354306|PMID:31283864|PMID:32383558|PMID:9536098 8966209 Calm2 calmodulin 2 gene DOID:0110656 long QT syndrome 15 ISO RGD:736342 D RGD:7240710 20180130 OMIM 8966209 Calm2 calmodulin 2 gene DOID:0110656 long QT syndrome 15 ISO RGD:736342 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Long QT syndrome 15 PMID:11569915|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:29758562|PMID:30348784|PMID:31283864|PMID:32383558 8966209 Calm2 calmodulin 2 gene DOID:14671 multiple intestinal atresia ISO RGD:736342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:28492532 8966209 Calm2 calmodulin 2 gene DOID:1470 major depressive disorder ISO RGD:736342 D RGD:9068941 20200609 RGD mRNA:decreased expression:frontal association cortex PMID:22885997|REF_RGD_ID:6892958 8966209 Calm2 calmodulin 2 gene DOID:2843 long QT syndrome ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11569915|PMID:17576681|PMID:23388215|PMID:24917665|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27374306|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30354306|PMID:31283864|PMID:9536098 8966209 Calm2 calmodulin 2 gene DOID:2843 long QT syndrome ISO RGD:736342 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24917665|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27516456|PMID:28335032|PMID:28492532|PMID:31283864 8966209 Calm2 calmodulin 2 gene DOID:3883 Lynch syndrome ISO RGD:736342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8966209 Calm2 calmodulin 2 gene DOID:5062 phencyclidine abuse ISO RGD:736342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8966209 Calm2 calmodulin 2 gene DOID:630 genetic disease ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8966209 Calm2 calmodulin 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:736342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8966209 Calm2 calmodulin 2 gene DOID:9007 sudden infant death syndrome ISO RGD:736342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME 8966209 Calm2 calmodulin 2 gene DOID:9505 cannabis abuse ISO RGD:736342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 8966216 Gys2 glycogen synthase 2 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:733991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 8966216 Gys2 glycogen synthase 2 gene DOID:2747 glycogen storage disease ISO RGD:733991 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:12072888|PMID:18341095|PMID:20051115|PMID:24033266|PMID:25070466|PMID:25741868|PMID:28245189|PMID:28492532|PMID:32374048|PMID:32395408|PMID:32779500|PMID:33502066|PMID:9691087 8966216 Gys2 glycogen synthase 2 gene DOID:5419 schizophrenia ISO RGD:733991 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8966216 Gys2 glycogen synthase 2 gene DOID:630 genetic disease ISO RGD:733991 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8966216 Gys2 glycogen synthase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:733991 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8966216 Gys2 glycogen synthase 2 gene DOID:9006581 Glycogen Storage Disease 0, Liver ISO RGD:733991 D RGD:7240710 20180130 OMIM 8966216 Gys2 glycogen synthase 2 gene DOID:9006581 Glycogen Storage Disease 0, Liver ISO RGD:733991 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypoglycemia with deficiency of glycogen synthetase in the liver | ClinVar Annotator: match by term: LIVER GLYCOGEN SYNTHASE DEFICIENCY PMID:106027|PMID:12072888|PMID:141912|PMID:16199547|PMID:16337419|PMID:17576681|PMID:18341095|PMID:20051115|PMID:24033266|PMID:25070466|PMID:25741868|PMID:28245189|PMID:28468868|PMID:28492532|PMID:29167993|PMID:32374048|PMID:32377253|PMID:32395408|PMID:32779500|PMID:33502066|PMID:35854365|PMID:8534634|PMID:9536098|PMID:9691087 8966241 Fam120c family with sequence similarity 120 member C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8966241 Fam120c family with sequence similarity 120 member C gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1603035 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8966241 Fam120c family with sequence similarity 120 member C gene DOID:12849 autistic disorder ISO RGD:1603035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8966241 Fam120c family with sequence similarity 120 member C gene DOID:630 genetic disease ISO RGD:1603035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966265 Sass6 SAS-6 centriolar assembly protein gene DOID:0070279 primary autosomal recessive microcephaly 14 ISO RGD:1603551 D RGD:7240710 20180130 OMIM 8966265 Sass6 SAS-6 centriolar assembly protein gene DOID:0070279 primary autosomal recessive microcephaly 14 ISO RGD:1603551 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive PMID:24951542|PMID:25741868|PMID:28492532|PMID:30639237 8966265 Sass6 SAS-6 centriolar assembly protein gene DOID:630 genetic disease ISO RGD:1603551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21273447|PMID:25741868 8966265 Sass6 SAS-6 centriolar assembly protein gene DOID:9269 maple syrup urine disease ISO RGD:1603551 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8966292 Emp1 epithelial membrane protein 1 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:735990 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8966292 Emp1 epithelial membrane protein 1 gene DOID:630 genetic disease ISO RGD:735990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966292 Emp1 epithelial membrane protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8966292 Emp1 epithelial membrane protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8966292 Emp1 epithelial membrane protein 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:735990 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8966312 Scrg1 stimulator of chondrogenesis 1 gene DOID:630 genetic disease ISO RGD:68543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966312 Scrg1 stimulator of chondrogenesis 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8966323 Acot8 acyl-CoA thioesterase 8 gene DOID:2234 focal epilepsy ISO RGD:70372 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8966323 Acot8 acyl-CoA thioesterase 8 gene DOID:630 genetic disease ISO RGD:70372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966323 Acot8 acyl-CoA thioesterase 8 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:70372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8966333 Dpysl2 dihydropyrimidinase like 2 gene DOID:10652 Alzheimer's disease ISO RGD:737388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 8966333 Dpysl2 dihydropyrimidinase like 2 gene DOID:1229 paranoid schizophrenia ISO RGD:737388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17105906 8966333 Dpysl2 dihydropyrimidinase like 2 gene DOID:1459 hypothyroidism ISO RGD:2517 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:thyroid gland PMID:11694350|REF_RGD_ID:2316251 8966333 Dpysl2 dihydropyrimidinase like 2 gene DOID:1824 status epilepticus treatment ISO RGD:2517 D RGD:9068941 20200609 RGD PMID:22761705|REF_RGD_ID:10045560 8966333 Dpysl2 dihydropyrimidinase like 2 gene DOID:2316 brain ischemia ISO RGD:2517 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19524114|REF_RGD_ID:2316241 8966333 Dpysl2 dihydropyrimidinase like 2 gene DOID:630 genetic disease ISO RGD:737388 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966333 Dpysl2 dihydropyrimidinase like 2 gene DOID:8398 osteoarthritis ISO RGD:737388 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8966333 Dpysl2 dihydropyrimidinase like 2 gene DOID:9000998 Brain Injuries ISO RGD:2517 D RGD:9068941 20200609 RGD protein:increased degradation:cerebral cortex, hippocampus PMID:17402852|REF_RGD_ID:2303056 8966369 Zglp1 zinc finger GATA like protein 1 gene DOID:630 genetic disease ISO RGD:3418338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966381 Fam114a1 family with sequence similarity 114 member A1 gene DOID:630 genetic disease ISO RGD:1606191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966381 Fam114a1 family with sequence similarity 114 member A1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1606191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8966410 Vma21 vacuolar ATPase assembly factor VMA21 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1604972 D RGD:7240710 20180130 OMIM 8966410 Vma21 vacuolar ATPase assembly factor VMA21 gene DOID:0050760 X-linked myopathy with excessive autophagy ISO RGD:1604972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy PMID:10063835|PMID:10449925|PMID:15725586|PMID:16217076|PMID:17576681|PMID:20434914|PMID:23315026|PMID:23850239|PMID:24488655|PMID:25683699|PMID:25741868|PMID:25809233|PMID:25817839|PMID:28492532|PMID:9305655|PMID:9536098 8966410 Vma21 vacuolar ATPase assembly factor VMA21 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8966410 Vma21 vacuolar ATPase assembly factor VMA21 gene DOID:0111225 centronuclear myopathy X-linked ISO RGD:1604972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Severe X-linked myotubular myopathy PMID:10063835|PMID:10449925|PMID:15725586|PMID:20434914|PMID:28492532|PMID:9305655 8966410 Vma21 vacuolar ATPase assembly factor VMA21 gene DOID:12849 autistic disorder ISO RGD:1604972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8966410 Vma21 vacuolar ATPase assembly factor VMA21 gene DOID:630 genetic disease ISO RGD:1604972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23315026|PMID:25809233|PMID:28492532|PMID:9536098 8966432 Zdhhc12 zinc finger DHHC-type palmitoyltransferase 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1315298 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8966432 Zdhhc12 zinc finger DHHC-type palmitoyltransferase 12 gene DOID:630 genetic disease ISO RGD:1315298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966444 Plekha7 pleckstrin homology domain containing A7 gene DOID:0050851 glomerulosclerosis ISO RGD:1598216 D RGD:9068941 20200609 RGD PMID:25136115|REF_RGD_ID:11079199 8966444 Plekha7 pleckstrin homology domain containing A7 gene DOID:0050851 glomerulosclerosis ameliorates ISO XCO:0000795 D RGD:9068941 20220204 RGD compared to wild type PMID:25136115|REF_RGD_ID:11079199 8966444 Plekha7 pleckstrin homology domain containing A7 gene DOID:1059 intellectual disability ISO RGD:1350975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8966444 Plekha7 pleckstrin homology domain containing A7 gene DOID:10763 hypertension ameliorates ISO XCO:0000795 D RGD:9068941 20210416 RGD PMID:25136115|REF_RGD_ID:11079199 8966444 Plekha7 pleckstrin homology domain containing A7 gene DOID:13550 angle-closure glaucoma ISO RGD:1350975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22922875|PMID:27064256 8966444 Plekha7 pleckstrin homology domain containing A7 gene DOID:630 genetic disease ISO RGD:1350975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966444 Plekha7 pleckstrin homology domain containing A7 gene DOID:9003139 Cardiac Fibrosis ISO RGD:1598216 D RGD:9068941 20200609 RGD PMID:25136115|REF_RGD_ID:11079199 8966444 Plekha7 pleckstrin homology domain containing A7 gene DOID:9003139 Cardiac Fibrosis ameliorates ISO XCO:0000795 D RGD:9068941 20220204 RGD compared to wild type PMID:25136115|REF_RGD_ID:11079199 8966444 Plekha7 pleckstrin homology domain containing A7 gene DOID:9296 cleft lip ISO RGD:1350975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate PMID:29805042 8966494 Cfap73 cilia and flagella associated protein 73 gene DOID:1059 intellectual disability ISO RGD:2311614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8966494 Cfap73 cilia and flagella associated protein 73 gene DOID:630 genetic disease ISO RGD:2311614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966506 Cpa6 carboxypeptidase A6 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1323390 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Periventricular heterotopia PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 8966506 Cpa6 carboxypeptidase A6 gene DOID:0060752 familial temporal lobe epilepsy 5 ISO RGD:1323390 D RGD:7240710 20180130 OMIM 8966506 Cpa6 carboxypeptidase A6 gene DOID:0060752 familial temporal lobe epilepsy 5 ISO RGD:1323390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CPA6-related condition | ClinVar Annotator: match by term: Familial temporal lobe epilepsy 5 PMID:17576681|PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28166811|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362|PMID:9536098 8966506 Cpa6 carboxypeptidase A6 gene DOID:0060755 familial temporal lobe epilepsy 2 ISO RGD:1323390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 2 8966506 Cpa6 carboxypeptidase A6 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1323390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:24360807|PMID:24360808|PMID:28492532 8966506 Cpa6 carboxypeptidase A6 gene DOID:0111308 familial febrile seizures 11 ISO RGD:1323390 D RGD:7240710 20180130 OMIM 8966506 Cpa6 carboxypeptidase A6 gene DOID:0111308 familial febrile seizures 11 ISO RGD:1323390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 11 PMID:16199547|PMID:17576681|PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:27781031|PMID:28166811|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362|PMID:9536098 8966506 Cpa6 carboxypeptidase A6 gene DOID:10283 prostate cancer ISO RGD:1323390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8966506 Cpa6 carboxypeptidase A6 gene DOID:1059 intellectual disability ISO RGD:1323390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21922598|PMID:23105115|PMID:25741868|PMID:28492532|PMID:29358611 8966506 Cpa6 carboxypeptidase A6 gene DOID:1826 epilepsy ISO RGD:1323390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 8966506 Cpa6 carboxypeptidase A6 gene DOID:2234 focal epilepsy ISO RGD:1323390 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 8966506 Cpa6 carboxypeptidase A6 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1323390 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 8966506 Cpa6 carboxypeptidase A6 gene DOID:630 genetic disease ISO RGD:1323390 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8966506 Cpa6 carboxypeptidase A6 gene DOID:9000348 Confusion ISO RGD:1323390 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Confusion PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 8966506 Cpa6 carboxypeptidase A6 gene DOID:9008086 Developmental Disabilities ISO RGD:1323390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:21922598|PMID:23105115|PMID:25741868|PMID:26467025|PMID:26648591|PMID:28492532|PMID:28761347|PMID:29358611|PMID:32581362 8966521 Lipt1 lipoyltransferase 1 gene DOID:630 genetic disease ISO RGD:1321082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:31042466|PMID:35388219 8966521 Lipt1 lipoyltransferase 1 gene DOID:9001276 Failure to Thrive ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 8966521 Lipt1 lipoyltransferase 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 8966521 Lipt1 lipoyltransferase 1 gene DOID:9004538 Hearing Loss ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 8966521 Lipt1 lipoyltransferase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1321082 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 8966521 Lipt1 lipoyltransferase 1 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1321082 D RGD:7240710 20200527 OMIM 8966521 Lipt1 lipoyltransferase 1 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1321082 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:17570395|PMID:24256811|PMID:24341803|PMID:25326635|PMID:25741868|PMID:27247813|PMID:28492532|PMID:31042466|PMID:33531667|PMID:34440436|PMID:35388219 8966553 Ablim2 actin binding LIM protein family member 2 gene DOID:630 genetic disease ISO RGD:1349528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966553 Ablim2 actin binding LIM protein family member 2 gene DOID:9002189 High Myopia ISO RGD:1349528 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8966592 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:2798065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8966592 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:2798065 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8966592 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:1059 intellectual disability ISO RGD:2798065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8966592 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:12704 ataxia telangiectasia ISO RGD:2798065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8966592 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:630 genetic disease ISO RGD:2798065 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966592 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2798065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8966592 Pou2af3 POU class 2 homeobox associating factor 3 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:2798065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8966608 Ddx1 DEAD-box helicase 1 gene DOID:0080365 endometrial hyperplasia ISO RGD:737232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22248470 8966608 Ddx1 DEAD-box helicase 1 gene DOID:13938 amenorrhea ISO RGD:737232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8966608 Ddx1 DEAD-box helicase 1 gene DOID:303 substance-related disorder ISO RGD:737232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8966608 Ddx1 DEAD-box helicase 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737232 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:24183723 8966608 Ddx1 DEAD-box helicase 1 gene DOID:5419 schizophrenia ISO RGD:737232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8966608 Ddx1 DEAD-box helicase 1 gene DOID:5723 optic atrophy ISO RGD:737232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:32581362 8966608 Ddx1 DEAD-box helicase 1 gene DOID:630 genetic disease ISO RGD:737232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966638 Ptprk protein tyrosine phosphatase receptor type K gene DOID:1909 melanoma ISO RGD:1354114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842|PMID:22842228 8966638 Ptprk protein tyrosine phosphatase receptor type K gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8966638 Ptprk protein tyrosine phosphatase receptor type K gene DOID:630 genetic disease ISO RGD:1354114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966638 Ptprk protein tyrosine phosphatase receptor type K gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8966681 Dlec1 DLEC1 cilia and flagella associated protein gene DOID:0050451 Brugada syndrome ISO RGD:1604836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 8966681 Dlec1 DLEC1 cilia and flagella associated protein gene DOID:5041 esophageal cancer ISO RGD:1604836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:25741868 8966681 Dlec1 DLEC1 cilia and flagella associated protein gene DOID:630 genetic disease ISO RGD:1604836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966681 Dlec1 DLEC1 cilia and flagella associated protein gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1604836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8966681 Dlec1 DLEC1 cilia and flagella associated protein gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1604836 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:27168825|REF_RGD_ID:11252164 8966735 Plekhb1 pleckstrin homology domain containing B1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1343334 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8966735 Plekhb1 pleckstrin homology domain containing B1 gene DOID:1059 intellectual disability ISO RGD:1343334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8966735 Plekhb1 pleckstrin homology domain containing B1 gene DOID:630 genetic disease ISO RGD:1343334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966735 Plekhb1 pleckstrin homology domain containing B1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8966762 Sall2 spalt like transcription factor 2 gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1345005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 8966762 Sall2 spalt like transcription factor 2 gene DOID:12270 coloboma ISO RGD:1345005 D RGD:7240710 20180130 OMIM 8966762 Sall2 spalt like transcription factor 2 gene DOID:12270 coloboma ISO RGD:1345005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma, ocular, autosomal recessive PMID:24412933|PMID:25741868 8966762 Sall2 spalt like transcription factor 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1345005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8966762 Sall2 spalt like transcription factor 2 gene DOID:630 genetic disease ISO RGD:1345005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8966762 Sall2 spalt like transcription factor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1345005 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8966777 B3gnt3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 gene DOID:630 genetic disease ISO RGD:1313012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966792 Togaram2 TOG array regulator of axonemal microtubules 2 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1603353 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB 8966792 Togaram2 TOG array regulator of axonemal microtubules 2 gene DOID:630 genetic disease ISO RGD:1603353 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966792 Togaram2 TOG array regulator of axonemal microtubules 2 gene DOID:9009095 Neuroblastoma 3 ISO RGD:1603353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 PMID:28492532 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:21181198|PMID:23768514|PMID:24824130|PMID:25741868 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:25741868|PMID:33260297 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B ISO RGD:1345099 D RGD:7240710 20180130 OMIM 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B ISO RGD:1345099 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B PMID:20920668|PMID:23596069|PMID:24033266|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:0110534 autosomal recessive nonsyndromic deafness 89 ISO RGD:1345099 D RGD:7240710 20180130 OMIM 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:0110534 autosomal recessive nonsyndromic deafness 89 ISO RGD:1345099 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 89 PMID:21181198|PMID:21427441|PMID:23596069|PMID:23768514|PMID:24033266|PMID:24824130|PMID:25356970|PMID:25741868|PMID:28492532|PMID:28887846|PMID:29615062|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475|PMID:31192300|PMID:32730690|PMID:33260297|PMID:34062854 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:0110989 Joubert syndrome 20 ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 20 PMID:23012439|PMID:23349226|PMID:28492532 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475|PMID:33260297 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:10579 leukodystrophy ISO RGD:1345099 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:33260297 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1345099 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:25741868|PMID:33260297 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20920668|PMID:28492532 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:11446 sciatic neuropathy ISO RGD:1359653 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:dorsal root ganglion: PMID:25467976|REF_RGD_ID:12910554 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:1891 optic nerve disease ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Optic neuropathy PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1345099 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10913247|PMID:23596069|PMID:24033266|PMID:25356970|PMID:25741868|PMID:28492532|PMID:30252186|PMID:30369941|PMID:31116475 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:9000305 LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS ISO RGD:1345099 D RGD:7240710 20210414 OMIM 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:9000305 LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS ISO RGD:1345099 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness PMID:21181198|PMID:21427441|PMID:23596069|PMID:23768514|PMID:24824130|PMID:25330800|PMID:25356970|PMID:25741868|PMID:26741492|PMID:27243033|PMID:28492532|PMID:28887846|PMID:29615062|PMID:30252186|PMID:30369941|PMID:30715177|PMID:31116475|PMID:32730690|PMID:33260297|PMID:33942428|PMID:34172899 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:9004489 DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY ISO RGD:1345099 D RGD:7240710 20210407 OMIM 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:9004489 DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY ISO RGD:1345099 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy PMID:21427441|PMID:23596069|PMID:25356970|PMID:25741868|PMID:28492532|PMID:28887846|PMID:29615062|PMID:30252186|PMID:30311386|PMID:30369941|PMID:31116475|PMID:33260297 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:9004538 Hearing Loss ISO RGD:1345099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 8966816 Kars1 lysyl-tRNA synthetase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1345099 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33260297 8966850 Epha3 EPH receptor A3 gene DOID:0060224 atrial fibrillation ISO RGD:68566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8966850 Epha3 EPH receptor A3 gene DOID:1793 pancreatic cancer ISO RGD:68566 D RGD:9068941 20200609 RGD PMID:14670182|REF_RGD_ID:2317720 8966850 Epha3 EPH receptor A3 gene DOID:630 genetic disease ISO RGD:68566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966850 Epha3 EPH receptor A3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:68389 D RGD:9068941 20200609 RGD PMID:16083359|REF_RGD_ID:2301766 8966850 Epha3 EPH receptor A3 gene DOID:9000972 Fever ISO RGD:68389 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung, liver PMID:15671251|REF_RGD_ID:1581943 8966936 Retreg3 reticulophagy regulator family member 3 gene DOID:630 genetic disease ISO RGD:1601713 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966949 CUNH12orf56 chromosome unknown C12orf56 homolog gene DOID:630 genetic disease ISO RGD:1603368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966970 Prdm11 PR/SET domain 11 gene DOID:1059 intellectual disability ISO RGD:1343614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8966981 Dpys dihydropyrimidinase gene DOID:0111590 Cohen syndrome ISO RGD:68541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8966981 Dpys dihydropyrimidinase gene DOID:0111629 dihydropyrimidinase deficiency ISO RGD:68541 D RGD:7240710 20180130 OMIM 8966981 Dpys dihydropyrimidinase gene DOID:0111629 dihydropyrimidinase deficiency ISO RGD:68541 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DPYS-related condition | ClinVar Annotator: match by term: Dihydropyrimidinase deficiency PMID:16199547|PMID:17383919|PMID:17576681|PMID:18075467|PMID:20362666|PMID:23732435|PMID:25741868|PMID:25915935|PMID:28492532|PMID:28642038|PMID:29054612|PMID:30384990|PMID:33179229|PMID:9266350|PMID:9536098|PMID:9718352 8966981 Dpys dihydropyrimidinase gene DOID:630 genetic disease ISO RGD:68541 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20362666|PMID:25741868|PMID:26244261|PMID:28492532|PMID:28642038 8966981 Dpys dihydropyrimidinase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:68541 D RGD:9068941 20200609 RGD dihydropyrimidinuria PMID:9718352|REF_RGD_ID:1599001 8966981 Dpys dihydropyrimidinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68541 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8966998 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:733941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8966998 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:0110255 cataract 5 multiple types ISO RGD:733941 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 8966998 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:733941 D RGD:9068941 20200609 RGD PMID:14557245|REF_RGD_ID:2302388 8966998 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:619945 D RGD:9068941 20200609 RGD PMID:21386696|REF_RGD_ID:13801046 8966998 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:630 genetic disease ISO RGD:733941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8966998 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:9005238 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA ISO RGD:733941 D RGD:7240710 20230505 OMIM 8966998 Nae1 NEDD8 activating enzyme E1 subunit 1 gene DOID:9005238 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA ISO RGD:733941 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia PMID:36608681 8967035 Ms4a5 membrane spanning 4-domains A5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350963 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8967035 Ms4a5 membrane spanning 4-domains A5 gene DOID:1059 intellectual disability ISO RGD:1350963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8967035 Ms4a5 membrane spanning 4-domains A5 gene DOID:630 genetic disease ISO RGD:1350963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967050 Atxn3 ataxin 3 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1606333 D RGD:9068941 20240314 CTD CTD Direct Evidence: marker/mechanism 8967050 Atxn3 ataxin 3 gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:1606333 D RGD:7240710 20240313 OMIM 8967050 Atxn3 ataxin 3 gene DOID:0080054 achondrogenesis type IA ISO RGD:1606333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8967050 Atxn3 ataxin 3 gene DOID:1440 Machado-Joseph disease ISO RGD:1606333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azorean disease 8967050 Atxn3 ataxin 3 gene DOID:1440 Machado-Joseph disease susceptibility ISO RGD:1606333 D RGD:7240710 20240313 OMIM 8967050 Atxn3 ataxin 3 gene DOID:1440 Machado-Joseph disease treatment ISO RGD:1606333 D RGD:9068941 20200609 RGD PMID:20308049|REF_RGD_ID:11557997 8967050 Atxn3 ataxin 3 gene DOID:630 genetic disease ISO RGD:1606333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967050 Atxn3 ataxin 3 gene DOID:9002695 Cataplexy ISO RGD:1606333 D RGD:9068941 20200609 RGD PMID:15128861|REF_RGD_ID:1358427 8967050 Atxn3 ataxin 3 gene DOID:9002955 Nerve Degeneration ISO RGD:1606333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9635424 8967078 Rexo1 RNA exonuclease 1 homolog gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1320447 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8967078 Rexo1 RNA exonuclease 1 homolog gene DOID:11612 polycystic ovary syndrome ISO RGD:1320447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8967078 Rexo1 RNA exonuclease 1 homolog gene DOID:5339 cyclic hematopoiesis ISO RGD:1320447 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8967078 Rexo1 RNA exonuclease 1 homolog gene DOID:630 genetic disease ISO RGD:1320447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967078 Rexo1 RNA exonuclease 1 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8967107 Imp3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 8967107 Imp3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:1826 epilepsy ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8967107 Imp3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:2717 Bloom syndrome ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8967107 Imp3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:5419 schizophrenia ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8967107 Imp3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:630 genetic disease ISO RGD:1315660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967107 Imp3 IMP U3 small nucleolar ribonucleoprotein 3 gene DOID:9256 colorectal cancer ISO RGD:1315660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8967113 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8967113 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8967113 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1350682 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8967113 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1350682 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8967113 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8967113 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350682 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8967113 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8967113 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8967113 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:630 genetic disease ISO RGD:1350682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967113 Glt6d1 glycosyltransferase 6 domain containing 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1350682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8967123 Spart spartin gene DOID:0050753 cerebellar ataxia ISO RGD:1314206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25558065|PMID:25741868 8967123 Spart spartin gene DOID:0050886 Troyer syndrome ISO RGD:1314206 D RGD:7240710 20180130 OMIM 8967123 Spart spartin gene DOID:0050886 Troyer syndrome ISO RGD:1314206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SPART-related condition | ClinVar Annotator: match by term: Troyer syndrome PMID:12134148|PMID:18413476|PMID:20437587|PMID:20504295|PMID:23699601|PMID:25558065|PMID:25741868|PMID:26003402|PMID:26467025|PMID:27112432|PMID:28492532|PMID:28679690 8967123 Spart spartin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1314206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23699601|PMID:25741868|PMID:26467025|PMID:28492532 8967123 Spart spartin gene DOID:4914 esophagus adenocarcinoma ISO RGD:1314206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 8967123 Spart spartin gene DOID:630 genetic disease ISO RGD:1314206 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18413476|PMID:20437587|PMID:20504295|PMID:25741868|PMID:26003402|PMID:26467025|PMID:27112432|PMID:28492532 8967142 Spin4 spindlin family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8967142 Spin4 spindlin family member 4 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1602297 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:9383023 8967142 Spin4 spindlin family member 4 gene DOID:12849 autistic disorder ISO RGD:1602297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8967142 Spin4 spindlin family member 4 gene DOID:630 genetic disease ISO RGD:1602297 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967147 Rreb1 ras responsive element binding protein 1 gene DOID:0080690 RASopathy ISO RGD:1553608 D RGD:9068941 20221006 MouseDO 8967147 Rreb1 ras responsive element binding protein 1 gene DOID:10907 microcephaly ISO RGD:1322078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8967147 Rreb1 ras responsive element binding protein 1 gene DOID:13938 amenorrhea ISO RGD:1322078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8967147 Rreb1 ras responsive element binding protein 1 gene DOID:630 genetic disease ISO RGD:1322078 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8967189 Rgl2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8967189 Rgl2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1347432 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8967189 Rgl2 ral guanine nucleotide dissociation stimulator like 2 gene DOID:630 genetic disease ISO RGD:1347432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967210 Phf20 PHD finger protein 20 gene DOID:630 genetic disease ISO RGD:1605683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967210 Phf20 PHD finger protein 20 gene DOID:9007661 Dwarfism ISO RGD:1605683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8967243 LOC102004444 beta-defensin 1-like gene DOID:10754 otitis media IMP D RGD:11554036|PMID:22072973 20161019 RGD 8967243 LOC102004444 beta-defensin 1-like gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:17000097|REF_RGD_ID:4892262 8967243 LOC102004444 beta-defensin 1-like gene DOID:13406 pulmonary sarcoidosis ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 8967243 LOC102004444 beta-defensin 1-like gene DOID:2773 contact dermatitis ISO RGD:737379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8967243 LOC102004444 beta-defensin 1-like gene DOID:2841 asthma ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) PMID:16435024|REF_RGD_ID:4892254 8967243 LOC102004444 beta-defensin 1-like gene DOID:2841 asthma susceptibility ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:SNP: :-1816 T>C (human) PMID:15696078|REF_RGD_ID:4892263 8967243 LOC102004444 beta-defensin 1-like gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:11829455|REF_RGD_ID:1331523 8967243 LOC102004444 beta-defensin 1-like gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:16700921|REF_RGD_ID:4892251 8967243 LOC102004444 beta-defensin 1-like gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737379 D RGD:9068941 20200609 RGD DNA:polymorphism: :668C>G (human) PMID:15569478|REF_RGD_ID:4892257 8967243 LOC102004444 beta-defensin 1-like gene DOID:3770 pulmonary fibrosis ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 8967243 LOC102004444 beta-defensin 1-like gene DOID:552 pneumonia ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17000097|REF_RGD_ID:4892262 8967243 LOC102004444 beta-defensin 1-like gene DOID:630 genetic disease ISO RGD:737379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967243 LOC102004444 beta-defensin 1-like gene DOID:850 lung disease disease_progression ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:decreased expression:respiratory system fluid/secretion PMID:15463886|REF_RGD_ID:4892259 8967243 LOC102004444 beta-defensin 1-like gene DOID:850 lung disease severity ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNP:5' utr:c.-20G>A (human) PMID:21077791|REF_RGD_ID:4892247 8967243 LOC102004444 beta-defensin 1-like gene DOID:9002304 Prostatic Neoplasms ISO RGD:737379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8967243 LOC102004444 beta-defensin 1-like gene DOID:9005446 Mandibular Neoplasms ISO RGD:737379 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:11934727|REF_RGD_ID:4892265 8967243 LOC102004444 beta-defensin 1-like gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619943 D RGD:9068941 20200609 RGD PMID:16740310|REF_RGD_ID:2312491 8967243 LOC102004444 beta-defensin 1-like gene DOID:9007041 Actinobacillus Infections ISO RGD:619943 D RGD:9068941 20200609 RGD mRNA:increased expression:gingival epithelium PMID:17076783|REF_RGD_ID:4892269 8967243 LOC102004444 beta-defensin 1-like gene DOID:9007417 Pseudomonas Infections no_association ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNPs:5' utr, intron, 3' utr:multiple (human) PMID:15820309|REF_RGD_ID:4892256 8967243 LOC102004444 beta-defensin 1-like gene DOID:9007417 Pseudomonas Infections no_association ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) PMID:20193032|REF_RGD_ID:4892248 8967243 LOC102004444 beta-defensin 1-like gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:737379 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) PMID:17960157|REF_RGD_ID:4892250 8967243 LOC102004444 beta-defensin 1-like gene DOID:9352 type 2 diabetes mellitus ISO RGD:619943 D RGD:9068941 20200609 RGD PMID:14521940|REF_RGD_ID:4892271 8967243 LOC102004444 beta-defensin 1-like gene DOID:9675 pulmonary emphysema ISO RGD:732690 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:18699806|REF_RGD_ID:4892249 8967243 LOC102004444 beta-defensin 1-like gene DOID:9970 obesity ISO RGD:619943 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:11340353|REF_RGD_ID:4892260 8967249 Rnf19b ring finger protein 19B gene DOID:0080600 COVID-19 ISO RGD:1313515 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8967249 Rnf19b ring finger protein 19B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8967249 Rnf19b ring finger protein 19B gene DOID:630 genetic disease ISO RGD:1313515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967277 CUNH11orf24 chromosome unknown C11orf24 homolog gene DOID:1059 intellectual disability ISO RGD:1323665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8967277 CUNH11orf24 chromosome unknown C11orf24 homolog gene DOID:630 genetic disease ISO RGD:1323665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967277 CUNH11orf24 chromosome unknown C11orf24 homolog gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323665 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8967277 CUNH11orf24 chromosome unknown C11orf24 homolog gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323665 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8967293 Spink7 serine peptidase inhibitor Kazal type 7 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8967293 Spink7 serine peptidase inhibitor Kazal type 7 gene DOID:630 genetic disease ISO RGD:1606769 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967293 Spink7 serine peptidase inhibitor Kazal type 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8967293 Spink7 serine peptidase inhibitor Kazal type 7 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8967308 Hoxa9 homeobox A9 gene DOID:0060739 hand-foot-genital syndrome ISO RGD:1320652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hand-foot-genital syndrome 8967308 Hoxa9 homeobox A9 gene DOID:11054 urinary bladder cancer ISO RGD:1320652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 8967308 Hoxa9 homeobox A9 gene DOID:1909 melanoma ISO RGD:1320652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8967308 Hoxa9 homeobox A9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8967308 Hoxa9 homeobox A9 gene DOID:630 genetic disease ISO RGD:1320652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967308 Hoxa9 homeobox A9 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1320652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26332997 8967308 Hoxa9 homeobox A9 gene DOID:9119 acute myeloid leukemia ISO RGD:1320652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22541086 8967318 Gtf3c1 general transcription factor IIIC subunit 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8967318 Gtf3c1 general transcription factor IIIC subunit 1 gene DOID:630 genetic disease ISO RGD:736274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967318 Gtf3c1 general transcription factor IIIC subunit 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:736274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8967359 Itih2 inter-alpha-trypsin inhibitor heavy chain 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1345234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8967359 Itih2 inter-alpha-trypsin inhibitor heavy chain 2 gene DOID:630 genetic disease ISO RGD:1345234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967409 Cxcl16 C-X-C motif chemokine ligand 16 gene DOID:0080600 COVID-19 ISO RGD:1354459 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 8967409 Cxcl16 C-X-C motif chemokine ligand 16 gene DOID:10533 viral pneumonia ISO RGD:1354459 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8967409 Cxcl16 C-X-C motif chemokine ligand 16 gene DOID:418 systemic scleroderma ISO RGD:1354459 D RGD:9068941 20200609 RGD protein:increased expression:serum, skin, endothelial cell PMID:21303517|REF_RGD_ID:5135279 8967409 Cxcl16 C-X-C motif chemokine ligand 16 gene DOID:630 genetic disease ISO RGD:1354459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967409 Cxcl16 C-X-C motif chemokine ligand 16 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1354459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:0050855 renal fibrosis ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:22299048|REF_RGD_ID:11041600 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:0080322 polycystic kidney disease ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:17322369|REF_RGD_ID:10395372 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:0080339 familial erythrocytosis 4 ISO RGD:68594 D RGD:7240710 20180130 OMIM 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:0080339 familial erythrocytosis 4 ISO RGD:68594 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 4 PMID:18184961|PMID:18378852|PMID:18508787|PMID:18650473|PMID:19208626|PMID:21389259|PMID:22367913|PMID:22992668|PMID:23716564|PMID:25741868|PMID:27292716|PMID:27651169|PMID:28492532|PMID:29790589|PMID:35484400 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:10591 pre-eclampsia ISO RGD:68594 D RGD:9068941 20200609 RGD PMID:11159352|REF_RGD_ID:1580974 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:10780 primary polycythemia ISO RGD:68594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial erythrocytosis 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:11650 bronchopulmonary dysplasia treatment ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:23065129|REF_RGD_ID:10395385 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:12450 pancytopenia ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:12750163|REF_RGD_ID:11041567 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:68595 D RGD:9068941 20220825 MouseDO OMIM:267450 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:68594 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:22299048|REF_RGD_ID:11041600 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:14227 azoospermia ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:3021 acute kidney failure treatment ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:16762988|REF_RGD_ID:10395386 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:3307 teratoma ISO RGD:68594 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Teratoma 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:3669 intermittent claudication treatment ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:21771896|REF_RGD_ID:10395378 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:3883 Lynch syndrome ISO RGD:68594 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:68594 D RGD:9068941 20200609 RGD PMID:21812995|REF_RGD_ID:10395382 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:4195 hyperglycemia ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:17914354|REF_RGD_ID:10395377 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:12750296|REF_RGD_ID:10395373 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:68594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21131975 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:5679 retinal disease ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:5844 myocardial infarction ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:15247145|PMID:18484163|REF_RGD_ID:1580977|REF_RGD_ID:5147886 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:630 genetic disease ISO RGD:68594 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34828399 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:16215633|REF_RGD_ID:10395375 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: 2097G>A,p.G537R(human) PMID:18650473|REF_RGD_ID:11041573 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26735578 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:68594 D RGD:9068941 20200609 RGD protein:increased expression:layer of synovial tissue, stromal cell PMID:12823854|REF_RGD_ID:10395366 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68594 D RGD:9068941 20200609 RGD mRNA:increased expression:cartilage PMID:20495569|REF_RGD_ID:10395365 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68594 D RGD:9068941 20200609 RGD protein:increased expression:layer of synovial tissue, stromal cell PMID:12823854|REF_RGD_ID:10395366 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:8398 osteoarthritis ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:20495569|PMID:21869830|REF_RGD_ID:10395364|REF_RGD_ID:10395365 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:8432 polycythemia ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: 2097G>A,p.G537R(human) PMID:18650473|REF_RGD_ID:11041573 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:8432 polycythemia susceptibility ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype: :rs13419896, rs12619696(human) PMID:25792003|REF_RGD_ID:11041568 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:8893 psoriasis ISO RGD:68594 D RGD:9068941 20200609 RGD PMID:17495954|REF_RGD_ID:10395383 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:68404 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney medulla (rat) PMID:32416216|REF_RGD_ID:401793731 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9000918 Disease Progression ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26735578 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:22960363|REF_RGD_ID:10395371 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:68404 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17914354|REF_RGD_ID:10395377 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:68404 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:17967803|REF_RGD_ID:10395374 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:SNP:5' utr: (rs17039192) (human) PMID:20495570|REF_RGD_ID:10395368 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9002331 Knee Osteoarthritis no_association ISO RGD:68594 D RGD:9068941 20200609 RGD DNA:SNP:5' utr: (rs17039192) (human) PMID:22247019|REF_RGD_ID:10395367 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9003936 Cardiomegaly ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26735578|PMID:30090327 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:68594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23333640 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9005600 Infarction ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:12911537|REF_RGD_ID:10395384 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9005725 Iron Overload treatment ISO RGD:68595 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia; PMID:24282296|REF_RGD_ID:11041571 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:23603807|REF_RGD_ID:10395381 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9007461 Chronic Lung Allograft Dysfunction ISO RGD:68404 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:22305384|REF_RGD_ID:10395369 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:23333640|PMID:26735578|PMID:30090327 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9007702 Carcinogenesis ISO RGD:68594 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26735578 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68404 D RGD:9068941 20200609 RGD PMID:17914354|REF_RGD_ID:10395377 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9452 steatotic liver disease ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:14608355|REF_RGD_ID:734934 8967431 Epas1 endothelial PAS domain protein 1 gene DOID:9498 pulmonary eosinophilia ISO RGD:68595 D RGD:9068941 20200609 RGD PMID:24218148|REF_RGD_ID:11041569 8967469 Dthd1 death domain containing 1 gene DOID:630 genetic disease ISO RGD:3103432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8967469 Dthd1 death domain containing 1 gene DOID:8501 fundus dystrophy ISO RGD:3103432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 8967469 Dthd1 death domain containing 1 gene DOID:9884 muscular dystrophy ISO RGD:3103432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:23105016|PMID:28492532 8967483 Atg10 autophagy related 10 gene DOID:630 genetic disease ISO RGD:1351458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967483 Atg10 autophagy related 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8967483 Atg10 autophagy related 10 gene DOID:9008939 Breast Neoplasms ISO RGD:1351458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8967505 Npff neuropeptide FF-amide peptide precursor gene DOID:630 genetic disease ISO RGD:736374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967505 Npff neuropeptide FF-amide peptide precursor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8967505 Npff neuropeptide FF-amide peptide precursor gene DOID:9005372 Inflammation ISO RGD:62033 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, neuron PMID:10220558|REF_RGD_ID:61673 8967512 Btg4 BTG anti-proliferation factor 4 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1318793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8967512 Btg4 BTG anti-proliferation factor 4 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1318793 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8967512 Btg4 BTG anti-proliferation factor 4 gene DOID:1059 intellectual disability ISO RGD:1318793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8967512 Btg4 BTG anti-proliferation factor 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1318793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8967512 Btg4 BTG anti-proliferation factor 4 gene DOID:630 genetic disease ISO RGD:1318793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967512 Btg4 BTG anti-proliferation factor 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1318793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8967512 Btg4 BTG anti-proliferation factor 4 gene DOID:9007155 Oocyte/Zygote/Embryo Maturation Arrest 8 ISO RGD:1318793 D RGD:7240710 20200930 OMIM 8967512 Btg4 BTG anti-proliferation factor 4 gene DOID:9007155 Oocyte/Zygote/Embryo Maturation Arrest 8 ISO RGD:1318793 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 8 PMID:25741868|PMID:32502391|PMID:34647228 8967512 Btg4 BTG anti-proliferation factor 4 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1318793 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8967529 Mrto4 MRT4 homolog, ribosome maturation factor gene DOID:0060369 Parkinson's disease 6 ISO RGD:1323307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8967529 Mrto4 MRT4 homolog, ribosome maturation factor gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1323307 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8967529 Mrto4 MRT4 homolog, ribosome maturation factor gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1323307 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8967529 Mrto4 MRT4 homolog, ribosome maturation factor gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1323307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8967529 Mrto4 MRT4 homolog, ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1323307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967529 Mrto4 MRT4 homolog, ribosome maturation factor gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1323307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8967541 Cort cortistatin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:736209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8967541 Cort cortistatin gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:736209 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8967541 Cort cortistatin gene DOID:0111936 immunodeficiency 14 ISO RGD:736209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8967541 Cort cortistatin gene DOID:3454 brain infarction ISO RGD:2383 D RGD:9068941 20230527 RGD mRNA:decreased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8967541 Cort cortistatin gene DOID:630 genetic disease ISO RGD:736209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967547 Wdr36 WD repeat domain 36 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8967547 Wdr36 WD repeat domain 36 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1313630 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:15677485|PMID:18172102|PMID:19150991|PMID:22995991|PMID:25333069|PMID:25741868|PMID:28492532 8967547 Wdr36 WD repeat domain 36 gene DOID:1067 open-angle glaucoma ISO RGD:1313630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21059646 8967547 Wdr36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma ISO RGD:1313630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:25741868|PMID:28492532 8967547 Wdr36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D658G PMID:16876519|REF_RGD_ID:8548466 8967547 Wdr36 WD repeat domain 36 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D658G, N355S, A449T and R529Q (human) PMID:15677485|REF_RGD_ID:8548465 8967547 Wdr36 WD repeat domain 36 gene DOID:1686 glaucoma susceptibility ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:haplotype::rs13153937, rs10038177, rs11241095 (human) PMID:19347049|REF_RGD_ID:8548461 8967547 Wdr36 WD repeat domain 36 gene DOID:1686 glaucoma susceptibility ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:rs10038177(human) PMID:22025897|REF_RGD_ID:8548460 8967547 Wdr36 WD repeat domain 36 gene DOID:1686 glaucoma susceptibility ISO RGD:1313630 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.I264V,c.1965-30A>G(human) PMID:17960130|REF_RGD_ID:8548462 8967547 Wdr36 WD repeat domain 36 gene DOID:2841 asthma ISO RGD:1313630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610 8967547 Wdr36 WD repeat domain 36 gene DOID:630 genetic disease ISO RGD:1313630 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8967547 Wdr36 WD repeat domain 36 gene DOID:8466 retinal degeneration ISO RGD:1550247 D RGD:9068941 20200609 RGD DNA:deletion:cds: PMID:20631153|REF_RGD_ID:8548464 8967547 Wdr36 WD repeat domain 36 gene DOID:9002189 High Myopia ISO RGD:1313630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 8967547 Wdr36 WD repeat domain 36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8967547 Wdr36 WD repeat domain 36 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8967547 Wdr36 WD repeat domain 36 gene DOID:9008133 Glaucoma 1, Open Angle, G ISO RGD:1313630 D RGD:7240710 20180130 OMIM 8967547 Wdr36 WD repeat domain 36 gene DOID:9008133 Glaucoma 1, Open Angle, G ISO RGD:1313630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, G | ClinVar Annotator: match by term: WDR36-related condition PMID:15677485|PMID:16723468|PMID:17353431|PMID:17563723|PMID:18172102|PMID:19150991|PMID:22995991|PMID:25333069|PMID:25741868|PMID:28492532 8967577 Gja10 gap junction protein alpha 10 gene DOID:630 genetic disease ISO RGD:1603289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967580 Kncn kinocilin gene DOID:630 genetic disease ISO RGD:1604992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967587 Clip2 CAP-Gly domain containing linker protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 8967587 Clip2 CAP-Gly domain containing linker protein 2 gene DOID:12849 autistic disorder ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8967587 Clip2 CAP-Gly domain containing linker protein 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:734383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 8967587 Clip2 CAP-Gly domain containing linker protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8967587 Clip2 CAP-Gly domain containing linker protein 2 gene DOID:5419 schizophrenia ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8967587 Clip2 CAP-Gly domain containing linker protein 2 gene DOID:630 genetic disease ISO RGD:734383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967587 Clip2 CAP-Gly domain containing linker protein 2 gene DOID:8445 intestinal volvulus ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8967587 Clip2 CAP-Gly domain containing linker protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8967587 Clip2 CAP-Gly domain containing linker protein 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:734383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8967604 Vstm5 V-set and transmembrane domain containing 5 gene DOID:1059 intellectual disability ISO RGD:2301112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8967604 Vstm5 V-set and transmembrane domain containing 5 gene DOID:630 genetic disease ISO RGD:2301112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967612 Mrps35 mitochondrial ribosomal protein S35 gene DOID:630 genetic disease ISO RGD:1315499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967634 Ccdc171 coiled-coil domain containing 171 gene DOID:10283 prostate cancer ISO RGD:1348779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8967634 Ccdc171 coiled-coil domain containing 171 gene DOID:630 genetic disease ISO RGD:1348779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967674 Rbm3 RNA binding motif protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8967674 Rbm3 RNA binding motif protein 3 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1350280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8967674 Rbm3 RNA binding motif protein 3 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8967674 Rbm3 RNA binding motif protein 3 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1350280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8967674 Rbm3 RNA binding motif protein 3 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8967674 Rbm3 RNA binding motif protein 3 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350280 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8967674 Rbm3 RNA binding motif protein 3 gene DOID:12849 autistic disorder ISO RGD:1350280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8967674 Rbm3 RNA binding motif protein 3 gene DOID:630 genetic disease ISO RGD:1350280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967674 Rbm3 RNA binding motif protein 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8967674 Rbm3 RNA binding motif protein 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1350280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19734850 8967697 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:0080064 autosomal recessive spinocerebellar ataxia 17 ISO RGD:1312323 D RGD:7240710 20180130 OMIM 8967697 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:0080064 autosomal recessive spinocerebellar ataxia 17 ISO RGD:1312323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 PMID:15981765|PMID:16199547|PMID:18414213|PMID:25361784|PMID:25741868|PMID:26197978|PMID:27016154|PMID:28492532 8967697 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:1059 intellectual disability ISO RGD:1312323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8967697 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:630 genetic disease ISO RGD:1312323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967697 Cwf19l1 CWF19 like cell cycle control factor 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1312323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8967727 Cfap65 cilia and flagella associated protein 65 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8967727 Cfap65 cilia and flagella associated protein 65 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8967727 Cfap65 cilia and flagella associated protein 65 gene DOID:0111918 spermatogenic failure 40 ISO RGD:1606123 D RGD:7240710 20191211 OMIM 8967727 Cfap65 cilia and flagella associated protein 65 gene DOID:0111918 spermatogenic failure 40 ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 40 PMID:25741868|PMID:28552195|PMID:31413122|PMID:31501240|PMID:31571197 8967727 Cfap65 cilia and flagella associated protein 65 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8967727 Cfap65 cilia and flagella associated protein 65 gene DOID:10283 prostate cancer ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8967727 Cfap65 cilia and flagella associated protein 65 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8967727 Cfap65 cilia and flagella associated protein 65 gene DOID:5419 schizophrenia ISO RGD:1606123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8967727 Cfap65 cilia and flagella associated protein 65 gene DOID:630 genetic disease ISO RGD:1606123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967727 Cfap65 cilia and flagella associated protein 65 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8967801 Card19 caspase recruitment domain family member 19 gene DOID:630 genetic disease ISO RGD:1314456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967815 LOC102026077 chromosome unknown open reading frame, human C12orf71 gene DOID:630 genetic disease ISO RGD:2302460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967823 Sfmbt1 Scm like with four mbt domains 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1343140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8967861 Nlrx1 NLR family member X1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8967861 Nlrx1 NLR family member X1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8967861 Nlrx1 NLR family member X1 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 8967861 Nlrx1 NLR family member X1 gene DOID:0080690 RASopathy ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 8967861 Nlrx1 NLR family member X1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8967861 Nlrx1 NLR family member X1 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 8967861 Nlrx1 NLR family member X1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8967861 Nlrx1 NLR family member X1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8967861 Nlrx1 NLR family member X1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8967861 Nlrx1 NLR family member X1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606225 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8967861 Nlrx1 NLR family member X1 gene DOID:2843 long QT syndrome ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8967861 Nlrx1 NLR family member X1 gene DOID:5419 schizophrenia ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8967861 Nlrx1 NLR family member X1 gene DOID:630 genetic disease ISO RGD:1606225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967861 Nlrx1 NLR family member X1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8967861 Nlrx1 NLR family member X1 gene DOID:9007661 Dwarfism ISO RGD:1606225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8967882 Clic3 chloride intracellular channel 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8967882 Clic3 chloride intracellular channel 3 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1316330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8967882 Clic3 chloride intracellular channel 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316330 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8967882 Clic3 chloride intracellular channel 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8967882 Clic3 chloride intracellular channel 3 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316330 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8967882 Clic3 chloride intracellular channel 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 8967882 Clic3 chloride intracellular channel 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316330 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8967882 Clic3 chloride intracellular channel 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8967882 Clic3 chloride intracellular channel 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1316330 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8967882 Clic3 chloride intracellular channel 3 gene DOID:1826 epilepsy ISO RGD:1316330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8967882 Clic3 chloride intracellular channel 3 gene DOID:3652 Leigh disease ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8967882 Clic3 chloride intracellular channel 3 gene DOID:630 genetic disease ISO RGD:1316330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967882 Clic3 chloride intracellular channel 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316330 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15130911 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:0060903 thrombosis ISO RGD:731632 D RGD:9068941 20200609 RGD PMID:15130911|REF_RGD_ID:1582496 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:731631 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:0110367 retinitis pigmentosa 38 ISO RGD:731631 D RGD:7240710 20180130 OMIM 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:0110367 retinitis pigmentosa 38 ISO RGD:731631 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 38 PMID:11062461|PMID:11727200|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:20300561|PMID:21677792|PMID:22180149|PMID:22939401|PMID:24033266|PMID:24265693|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25326637|PMID:25741868|PMID:26263531|PMID:26355662|PMID:26872967|PMID:28041643|PMID:28462455|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30718709|PMID:30851773|PMID:32036094|PMID:33353011|PMID:34906470|PMID:36909829|PMID:9536098 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:10584 retinitis pigmentosa ISO RGD:731631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11062461|PMID:11592982|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:19956407|PMID:20300561|PMID:22180149|PMID:22939401|PMID:24265693|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26263531|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30054919|PMID:30718709|PMID:31725702|PMID:9536098 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:10584 retinitis pigmentosa ISO RGD:731631 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11062461|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:19956407|PMID:20300561|PMID:22180149|PMID:22939401|PMID:24265693|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25741868|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30054919|PMID:30718709|PMID:31054281|PMID:31725702|PMID:32036094|PMID:33353011|PMID:34906470|PMID:36909829|PMID:9536098 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:2986 IgA glomerulonephritis ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:305 carcinoma ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028587 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:630 genetic disease ISO RGD:731631 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17301963|PMID:24265693|PMID:25741868|PMID:26355662|PMID:28492532|PMID:29659094|PMID:36909829 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:8466 retinal degeneration ISO RGD:69283 D RGD:9068941 20201218 RGD PMID:11592982|REF_RGD_ID:69668 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:8466 retinal degeneration treatment ISO RGD:69283 D RGD:9068941 20200609 RGD PMID:11592982|REF_RGD_ID:69668 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:8501 fundus dystrophy ISO RGD:731631 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11062461|PMID:11727200|PMID:15111602|PMID:16199547|PMID:17301963|PMID:17576681|PMID:24265693|PMID:24625443|PMID:25097241|PMID:25741868|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28462455|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29074561|PMID:29659094|PMID:30718709|PMID:33353011|PMID:33921607|PMID:34906470|PMID:36909829|PMID:9536098 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:9003121 Thromboembolism ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17047157 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:9477 pulmonary embolism ISO RGD:731631 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19028587 8967891 Mertk MER proto-oncogene, tyrosine kinase gene DOID:9477 pulmonary embolism ISO RGD:731632 D RGD:9068941 20200609 RGD PMID:15130911|REF_RGD_ID:1582496 8967913 Matn1 matrilin 1 gene DOID:630 genetic disease ISO RGD:1352772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967925 Eri2 ERI1 exoribonuclease family member 2 gene DOID:0080600 COVID-19 ISO RGD:1605306 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8967925 Eri2 ERI1 exoribonuclease family member 2 gene DOID:630 genetic disease ISO RGD:1605306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967940 Rpl36al ribosomal protein L36a like gene DOID:630 genetic disease ISO RGD:733562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967940 Rpl36al ribosomal protein L36a like gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733562 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8967940 Rpl36al ribosomal protein L36a like gene DOID:9562 primary ciliary dyskinesia ISO RGD:733562 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050644 arterial calcification of infancy ISO RGD:1351327 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Idiopathic infantile arterial calcification PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16369898|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:20981035|PMID:22539483|PMID:24033266|PMID:25741868|PMID:27238374|PMID:28377967|PMID:28492532|PMID:29979387|PMID:35738466|PMID:9662402 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0050949 autosomal recessive hypophosphatemic rickets ISO RGD:1351327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive PMID:10453738|PMID:11771660|PMID:16025115|PMID:16609882|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9662402 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0060887 ossification of the posterior longitudinal ligament of spine ISO RGD:733393 D RGD:9068941 20220825 MouseDO OMIM:602475 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0060887 ossification of the posterior longitudinal ligament of spine severity ISO RGD:1351327 D RGD:9068941 20200609 RGD DNA:deletion:intron:IVS20-11delT (human) PMID:15834329|REF_RGD_ID:13204732 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0080333 aortic valve disease 1 ISO RGD:628825 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:22659116|REF_RGD_ID:12914785 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351327 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10480624|PMID:11739459|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16369898|PMID:16607460|PMID:16968801|PMID:18950909|PMID:20137773|PMID:20981035|PMID:22539483|PMID:24033266|PMID:25741868|PMID:27238374|PMID:27467858|PMID:28377967|PMID:28492532|PMID:29979387|PMID:34609116|PMID:35738466 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:10754 otitis media ISO RGD:733393 D RGD:9068941 20220825 MouseDO OMIM:166760 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:1123 spondyloarthropathy ISO RGD:733393 D RGD:9068941 20220825 MouseDO OMIM:106300 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:1214 tympanosclerosis ISO RGD:733393 D RGD:9068941 20220825 MouseDO 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:1287 cardiovascular system disease ISO RGD:1351327 D RGD:9068941 20200609 RGD PMID:21282363|REF_RGD_ID:6906933 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:289 endometriosis ISO RGD:1351327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:3068 glioblastoma severity ISO RGD:1351327 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:21195542|REF_RGD_ID:13204719 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1351327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:783 end stage renal disease ISO RGD:1351327 D RGD:9068941 20200609 RGD Associated with Type 2 diabetes PMID:18184924|REF_RGD_ID:6906927 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:8398 osteoarthritis ISO RGD:733393 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9000815 Aortic Calcification ISO RGD:733393 D RGD:9068941 20200609 RGD PMID:15625282|REF_RGD_ID:13204716 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9000869 Cole Disease ISO RGD:1351327 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16369898|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:19380683|PMID:20981035|PMID:22539483|PMID:24033266|PMID:24075184|PMID:25741868|PMID:27238374|PMID:28377967|PMID:28492532|PMID:29979387|PMID:35738466|PMID:9662402 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9000869 Cole Disease susceptibility ISO RGD:1351327 D RGD:7240710 20240320 OMIM 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 ISO RGD:1351327 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:15605415|PMID:15677494|PMID:16025115|PMID:16315058|PMID:16369898|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:19229237|PMID:20016754|PMID:20137772|PMID:20137773|PMID:20981035|PMID:22539483|PMID:24033266|PMID:25741868|PMID:26857895|PMID:27238374|PMID:27467858|PMID:28377967|PMID:28492532|PMID:28973083|PMID:29244957|PMID:29979387|PMID:31826312|PMID:33005041|PMID:34609116|PMID:35738466|PMID:8960499|PMID:9662402 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 susceptibility ISO RGD:1351327 D RGD:7240710 20240320 OMIM 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:10480624|PMID:11739459|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16968801|PMID:18950909|PMID:20981035|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351327 D RGD:9068941 20200609 RGD PMID:19506043|REF_RGD_ID:6906926 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9002661 Diabetes Complications ISO RGD:1351327 D RGD:9068941 20200609 RGD Associated with obesity PMID:21282363|REF_RGD_ID:6906933 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9003781 Ossification of Posterior Longitudinal Ligament ISO RGD:1351327 D RGD:9068941 20200609 RGD OPLL,OMIM:602475;DNA:polymorphism PMID:10453738|REF_RGD_ID:1601041 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1351327 D RGD:9068941 20200609 RGD Associated with end stage renal disease PMID:21602183|REF_RGD_ID:6906934 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:1351327 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 PMID:10453738|PMID:10480624|PMID:11159191|PMID:11739459|PMID:11771660|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:15605415|PMID:15677494|PMID:15940697|PMID:16025115|PMID:16315058|PMID:16369898|PMID:16607460|PMID:16609882|PMID:16968801|PMID:17576681|PMID:18950909|PMID:19206175|PMID:19229237|PMID:20016754|PMID:20137773|PMID:20981035|PMID:22209248|PMID:22539483|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26857895|PMID:27238374|PMID:27467858|PMID:28377967|PMID:28492532|PMID:28973083|PMID:29141319|PMID:29244957|PMID:29979387|PMID:31444901|PMID:31805212|PMID:31826312|PMID:32573669|PMID:33005041|PMID:33465815|PMID:34609116|PMID:34633109|PMID:34906475|PMID:35276006|PMID:35482848|PMID:35738466|PMID:8960499|PMID:9536098|PMID:9662402 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 susceptibility ISO RGD:1351327 D RGD:7240710 20240320 OMIM 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007096 Stroke susceptibility ISO RGD:1351327 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:missense mutation:cds:p.K173Q (human) PMID:23422753|REF_RGD_ID:13204735 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007482 Bone Metastasis ISO RGD:1351327 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:bone element (human) PMID:23861746|REF_RGD_ID:13204736 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9007692 Insulin Resistance ISO RGD:1351327 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:10480624|PMID:11739459|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16607460|PMID:16968801|PMID:18950909|PMID:20981035|PMID:25741868|PMID:27238374|PMID:28492532|PMID:29979387|PMID:35738466 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9008221 Medial Coronary Sclerosis of Infancy ISO RGD:1351327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy PMID:15940697|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9278 hyperargininemia ISO RGD:1351327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginase deficiency PMID:28492532 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351327 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:12881724|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:16025115|PMID:16369898|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:20137773|PMID:20981035|PMID:22539483|PMID:24033266|PMID:25741868|PMID:27238374|PMID:27467858|PMID:28377967|PMID:28492532|PMID:29979387|PMID:34609116|PMID:35738466|PMID:9662402 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:1351327 D RGD:7240710 20240320 OMIM 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9970 obesity ISO RGD:1351327 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Obesity PMID:10453738|PMID:10480624|PMID:11739459|PMID:11771660|PMID:14671192|PMID:14988267|PMID:15001634|PMID:15126519|PMID:15677494|PMID:16025115|PMID:16369898|PMID:16607460|PMID:16609882|PMID:16968801|PMID:18950909|PMID:20981035|PMID:22539483|PMID:24033266|PMID:25741868|PMID:27238374|PMID:28377967|PMID:28492532|PMID:29979387|PMID:35738466|PMID:9662402 8967950 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 gene DOID:9970 obesity susceptibility ISO RGD:1351327 D RGD:7240710 20240320 OMIM 8967985 Tor4a torsin family 4 member A gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8967985 Tor4a torsin family 4 member A gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1606545 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8967985 Tor4a torsin family 4 member A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8967985 Tor4a torsin family 4 member A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:19264732|PMID:27891178|PMID:28492532 8967985 Tor4a torsin family 4 member A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1606545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8967985 Tor4a torsin family 4 member A gene DOID:0081097 Rafiq syndrome ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8967985 Tor4a torsin family 4 member A gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606545 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8967985 Tor4a torsin family 4 member A gene DOID:1826 epilepsy ISO RGD:1606545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8967985 Tor4a torsin family 4 member A gene DOID:630 genetic disease ISO RGD:1606545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967985 Tor4a torsin family 4 member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8967985 Tor4a torsin family 4 member A gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1606545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8967990 Znf721 zinc finger protein 721 gene DOID:1856 cherubism ISO RGD:1602425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8967990 Znf721 zinc finger protein 721 gene DOID:630 genetic disease ISO RGD:1602425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8967990 Znf721 zinc finger protein 721 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1602425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251 8968002 CUNH10orf71 chromosome unknown C10orf71 homolog gene DOID:11372 megacolon ISO RGD:1353451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8968002 CUNH10orf71 chromosome unknown C10orf71 homolog gene DOID:5419 schizophrenia ISO RGD:1353451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8968002 CUNH10orf71 chromosome unknown C10orf71 homolog gene DOID:630 genetic disease ISO RGD:1353451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968022 Pate1 prostate and testis expressed 1 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8968022 Pate1 prostate and testis expressed 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8968022 Pate1 prostate and testis expressed 1 gene DOID:5419 schizophrenia ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8968022 Pate1 prostate and testis expressed 1 gene DOID:630 genetic disease ISO RGD:1606693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968022 Pate1 prostate and testis expressed 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8968022 Pate1 prostate and testis expressed 1 gene DOID:9007661 Dwarfism ISO RGD:1606693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1354325 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:10473568|PMID:10506123|PMID:1221956|PMID:15211654|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:3631078|PMID:9536098 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1354325 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10473568|PMID:10506123|PMID:1221956|PMID:15211654|PMID:16199547|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:34193099|PMID:3631078|PMID:9536098 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:1221956|PMID:15211654|PMID:1640425|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:31278392 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1354325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1354325 D RGD:7240710 20200826 OMIM 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 ISO RGD:1354325 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 PMID:1221956|PMID:15211654|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:30914273|PMID:31278392|PMID:31614862|PMID:9536098 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:0111508 Torrance type platyspondylic dysplasia ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal skeletal dysplasia PMID:1221956|PMID:15211654|PMID:1640425|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:31278392 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1354325 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532|PMID:31278392|PMID:31614862 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:13359 Ehlers-Danlos syndrome susceptibility ISO RGD:1354325 D RGD:9068941 20200609 RGD DNA:transition:exon;808C>T PMID:10473568|REF_RGD_ID:1599433 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:14748 Sotos syndrome ISO RGD:1354325 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:2729 dyskeratosis congenita ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:630 genetic disease ISO RGD:1354325 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:31614862 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1354325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8968030 B4galt7 beta-1,4-galactosyltransferase 7 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1354325 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 8968040 Stk19 serine/threonine kinase 19 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8968040 Stk19 serine/threonine kinase 19 gene DOID:1909 melanoma ISO RGD:1347475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 8968040 Stk19 serine/threonine kinase 19 gene DOID:2513 basal cell carcinoma ISO RGD:1347475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 8968040 Stk19 serine/threonine kinase 19 gene DOID:630 genetic disease ISO RGD:1347475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968040 Stk19 serine/threonine kinase 19 gene DOID:8923 skin melanoma ISO RGD:1347475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 8968056 Tmem65 transmembrane protein 65 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1603356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8968056 Tmem65 transmembrane protein 65 gene DOID:630 genetic disease ISO RGD:1603356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968056 Tmem65 transmembrane protein 65 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8968068 Tmem150c transmembrane protein 150C gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:3564030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 8968068 Tmem150c transmembrane protein 150C gene DOID:630 genetic disease ISO RGD:3564030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968083 Sp100 SP100 nuclear antigen gene DOID:0060476 Perlman syndrome ISO RGD:1348100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8968083 Sp100 SP100 nuclear antigen gene DOID:0110991 Joubert syndrome 22 ISO RGD:1348100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8968083 Sp100 SP100 nuclear antigen gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8968083 Sp100 SP100 nuclear antigen gene DOID:630 genetic disease ISO RGD:1348100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968114 Aldh3b1 aldehyde dehydrogenase 3 family member B1 gene DOID:0060041 autism spectrum disorder ISO RGD:1349903 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8968114 Aldh3b1 aldehyde dehydrogenase 3 family member B1 gene DOID:1059 intellectual disability ISO RGD:1349903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8968114 Aldh3b1 aldehyde dehydrogenase 3 family member B1 gene DOID:630 genetic disease ISO RGD:1349903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968114 Aldh3b1 aldehyde dehydrogenase 3 family member B1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1349903 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8968114 Aldh3b1 aldehyde dehydrogenase 3 family member B1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1349903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8968138 Fam98b family with sequence similarity 98 member B gene DOID:0070484 Legius syndrome ISO RGD:1606116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Legius syndrome PMID:21548021|PMID:22753041|PMID:28492532 8968138 Fam98b family with sequence similarity 98 member B gene DOID:2717 Bloom syndrome ISO RGD:1606116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8968138 Fam98b family with sequence similarity 98 member B gene DOID:630 genetic disease ISO RGD:1606116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968138 Fam98b family with sequence similarity 98 member B gene DOID:9256 colorectal cancer ISO RGD:1606116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8968190 Cavin4 caveolae associated protein 4 gene DOID:1059 intellectual disability ISO RGD:1606650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8968190 Cavin4 caveolae associated protein 4 gene DOID:630 genetic disease ISO RGD:1606650 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968235 Fnbp1l formin binding protein 1 like gene DOID:630 genetic disease ISO RGD:1346897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:0060249 scoliosis ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNP:promoter: (rs10488682) (human) PMID:18794762|REF_RGD_ID:5686347 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:0060249 scoliosis no_association ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNP:promoter: (rs10488682) (human) PMID:21308753|REF_RGD_ID:5686349 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:0060249 scoliosis no_association ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:21192222|REF_RGD_ID:5686348 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:735482 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:1059 intellectual disability ISO RGD:735482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15182943|REF_RGD_ID:1580467 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:10930 borderline personality disorder ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:16495936|REF_RGD_ID:5686357 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:multiple PMID:20921119|REF_RGD_ID:5686345 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-6526A>G, 218A>C (human) PMID:16389593|REF_RGD_ID:1580457 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:1574 alcohol use disorder ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15654285|REF_RGD_ID:1580464 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:1596 depressive disorder ISO RGD:3895 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:24495952|REF_RGD_ID:9681459 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:1596 depressive disorder ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:16165107|REF_RGD_ID:1580459 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:1596 depressive disorder ISO RGD:735482 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron:218A>C, 779A>C (human) PMID:17134762|REF_RGD_ID:5686354 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:5419 schizophrenia ISO RGD:735482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:5419 schizophrenia ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15211625|REF_RGD_ID:1580466 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:630 genetic disease ISO RGD:735482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:6432 pulmonary hypertension ISO RGD:735482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18506000 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:6432 pulmonary hypertension severity ISO RGD:735483 D RGD:9068941 20200609 RGD PMID:17675372|REF_RGD_ID:5686352 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:9000784 Fibrosis ISO RGD:735483 D RGD:9068941 20200609 RGD PMID:21518801|REF_RGD_ID:5686344 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:9001310 Tobacco Use Disorder ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15635702|REF_RGD_ID:1580461 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:735482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28321044 8968262 Tph1 tryptophan hydroxylase 1 gene DOID:9478 postpartum depression ISO RGD:735482 D RGD:9068941 20200609 RGD PMID:15544576|REF_RGD_ID:1580465 8968284 Elk1 ETS transcription factor ELK1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8968284 Elk1 ETS transcription factor ELK1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8968284 Elk1 ETS transcription factor ELK1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8968284 Elk1 ETS transcription factor ELK1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8968284 Elk1 ETS transcription factor ELK1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8968284 Elk1 ETS transcription factor ELK1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349633 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8968284 Elk1 ETS transcription factor ELK1 gene DOID:10652 Alzheimer's disease ISO RGD:1349633 D RGD:9068941 20200609 RGD PMID:20126313|REF_RGD_ID:7488914 8968284 Elk1 ETS transcription factor ELK1 gene DOID:12217 Lewy body dementia ISO RGD:1349633 D RGD:9068941 20200609 RGD PMID:20126313|REF_RGD_ID:7488914 8968284 Elk1 ETS transcription factor ELK1 gene DOID:12849 autistic disorder ISO RGD:1349633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8968284 Elk1 ETS transcription factor ELK1 gene DOID:12858 Huntington's disease ISO RGD:1349633 D RGD:9068941 20200609 RGD PMID:20126313|REF_RGD_ID:7488914 8968284 Elk1 ETS transcription factor ELK1 gene DOID:2030 anxiety disorder ameliorates ISO RGD:1598663 D RGD:9068941 20231221 RGD associated with alcohol use disorder PMID:18322102|REF_RGD_ID:401938616 8968284 Elk1 ETS transcription factor ELK1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:1598663 D RGD:9068941 20200609 RGD PMID:17091294|REF_RGD_ID:7488902 8968284 Elk1 ETS transcription factor ELK1 gene DOID:5419 schizophrenia ISO RGD:1349633 D RGD:9068941 20200609 RGD protein:increased expression:cerebellar vermis PMID:10891039|REF_RGD_ID:10047412 8968284 Elk1 ETS transcription factor ELK1 gene DOID:630 genetic disease ISO RGD:1349633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968284 Elk1 ETS transcription factor ELK1 gene DOID:9000998 Brain Injuries ISO RGD:1598663 D RGD:9068941 20200609 RGD PMID:15362724|REF_RGD_ID:7488910 8968284 Elk1 ETS transcription factor ELK1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1349633 D RGD:9068941 20200609 RGD mRNA:decreased expression:placenta PMID:20008130|REF_RGD_ID:7488901 8968297 Ube2d3 ubiquitin conjugating enzyme E2 D3 gene DOID:3633 beta-mannosidosis ISO RGD:1344235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 8968315 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8968315 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8968315 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8968315 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8968315 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8968315 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112034 non-syndromic X-linked intellectual disability 9 ISO RGD:1345273 D RGD:7240710 20180130 OMIM 8968315 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112034 non-syndromic X-linked intellectual disability 9 ISO RGD:1345273 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 9 PMID:10398246|PMID:15162322|PMID:15342698|PMID:17221867|PMID:25741868|PMID:8288232 8968315 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1345273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8968315 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1345273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8968315 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1345273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8968315 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:12849 autistic disorder ISO RGD:1345273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8968315 Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1345273 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8968340 Emc10 ER membrane protein complex subunit 10 gene DOID:1059 intellectual disability ISO RGD:1602050 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33531666|PMID:35684946 8968340 Emc10 ER membrane protein complex subunit 10 gene DOID:630 genetic disease ISO RGD:1602050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968340 Emc10 ER membrane protein complex subunit 10 gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1602050 D RGD:7240710 20210414 OMIM 8968340 Emc10 ER membrane protein complex subunit 10 gene DOID:9007229 Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures ISO RGD:1602050 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures PMID:25741868|PMID:32869858|PMID:33531666|PMID:35684946 8968354 Rp1l1 RP1 like 1 gene DOID:0050578 occult macular dystrophy ISO RGD:1319776 D RGD:7240710 20180130 OMIM 8968354 Rp1l1 RP1 like 1 gene DOID:0050578 occult macular dystrophy ISO RGD:1319776 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: OMD | ClinVar Annotator: match by term: Occult macular dystrophy | ClinVar Annotator: match by term: RP1L1-related condition PMID:12724644|PMID:20826268|PMID:22277662|PMID:22504327|PMID:23281133|PMID:23619761|PMID:23745001|PMID:24033266|PMID:24838559|PMID:25741868|PMID:25908487|PMID:26355662|PMID:26782618|PMID:27029556|PMID:27623337|PMID:28492532|PMID:30025130|PMID:32036094|PMID:32360662|PMID:32483926|PMID:33302505 8968354 Rp1l1 RP1 like 1 gene DOID:0112145 retinitis pigmentosa 88 ISO RGD:1319776 D RGD:7240710 20200408 OMIM 8968354 Rp1l1 RP1 like 1 gene DOID:0112145 retinitis pigmentosa 88 ISO RGD:1319776 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 88 PMID:20826268|PMID:22504327|PMID:23281133|PMID:23619761|PMID:23745001|PMID:25741868|PMID:25908487|PMID:26355662|PMID:26782618|PMID:27029556|PMID:27623337|PMID:28492532|PMID:30025130|PMID:31087526|PMID:31236346|PMID:31833436|PMID:32036094|PMID:32360662|PMID:32483926|PMID:33302505|PMID:33546218 8968354 Rp1l1 RP1 like 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1319776 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22277662|PMID:25324289|PMID:26355662|PMID:28492532 8968354 Rp1l1 RP1 like 1 gene DOID:4448 macular degeneration ISO RGD:1319776 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 8968354 Rp1l1 RP1 like 1 gene DOID:630 genetic disease ISO RGD:1319776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8968354 Rp1l1 RP1 like 1 gene DOID:8501 fundus dystrophy ISO RGD:1319776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20826268|PMID:22504327|PMID:23281133|PMID:23619761|PMID:23745001|PMID:25741868|PMID:25908487|PMID:26782618|PMID:27623337|PMID:28492532|PMID:30025130 8968354 Rp1l1 RP1 like 1 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:1319776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 8968354 Rp1l1 RP1 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8968354 Rp1l1 RP1 like 1 gene DOID:9008060 Ulnar/Fibular Ray Defect and Brachydactyly ISO RGD:1319776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ulnar/fibular ray defect and brachydactyly PMID:28492532 8968369 Lmnb1 lamin B1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:733220 D RGD:7240710 20180130 OMIM 8968369 Lmnb1 lamin B1 gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy | ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset | ClinVar Annotator: match by term: Syndrome with microcephaly as major feature PMID:16951681|PMID:19151023|PMID:21225301|PMID:21909802|PMID:23649844|PMID:25741868|PMID:28492532|PMID:32910914|PMID:33033404 8968369 Lmnb1 lamin B1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8968369 Lmnb1 lamin B1 gene DOID:0080600 COVID-19 ISO RGD:733220 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8968369 Lmnb1 lamin B1 gene DOID:10907 microcephaly ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8968369 Lmnb1 lamin B1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:733220 D RGD:9068941 20220602 CTD CTD Direct Evidence: marker/mechanism 8968369 Lmnb1 lamin B1 gene DOID:3910 lung adenocarcinoma ISO RGD:733220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8968369 Lmnb1 lamin B1 gene DOID:630 genetic disease ISO RGD:733220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32910914|PMID:33033404 8968369 Lmnb1 lamin B1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8968369 Lmnb1 lamin B1 gene DOID:9006205 Animal Disease Models ISO RGD:733220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8968369 Lmnb1 lamin B1 gene DOID:9006542 Primary Autosomal Recessive Microcephaly 26 ISO RGD:733220 D RGD:7240710 20210303 OMIM 8968369 Lmnb1 lamin B1 gene DOID:9006542 Primary Autosomal Recessive Microcephaly 26 ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LMNB1-related condition | ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant PMID:25741868|PMID:32910914|PMID:33033404 8968369 Lmnb1 lamin B1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8968369 Lmnb1 lamin B1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733220 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8968408 Ero1b endoplasmic reticulum oxidoreductase 1 beta gene DOID:1540 parathyroid carcinoma ISO RGD:1344502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8968408 Ero1b endoplasmic reticulum oxidoreductase 1 beta gene DOID:630 genetic disease ISO RGD:1344502 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968408 Ero1b endoplasmic reticulum oxidoreductase 1 beta gene DOID:83 cataract ISO RGD:1344502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:33867527 8968408 Ero1b endoplasmic reticulum oxidoreductase 1 beta gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8968428 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8968428 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8968428 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1354318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8968428 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1354318 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8968428 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1354318 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8968428 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1354318 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 8968428 St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 gene DOID:630 genetic disease ISO RGD:1354318 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968450 Psme3 proteasome activator subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1315927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8968474 Scnm1 sodium channel modifier 1 gene DOID:630 genetic disease ISO RGD:1319050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968474 Scnm1 sodium channel modifier 1 gene DOID:9000935 Orofaciodigital Syndrome XIX ISO RGD:1319050 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX PMID:36084634 8968487 Slc35e4 solute carrier family 35 member E4 gene DOID:630 genetic disease ISO RGD:1602959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968493 Tbx22 T-box transcription factor 22 gene DOID:0050567 orofacial cleft ISO RGD:1343120 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:25741868 8968493 Tbx22 T-box transcription factor 22 gene DOID:0060613 X-linked cleft palate with or without ankyloglossia ISO RGD:1343120 D RGD:7240710 20180130 OMIM 8968493 Tbx22 T-box transcription factor 22 gene DOID:0060613 X-linked cleft palate with or without ankyloglossia ISO RGD:1343120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate with or without ankyloglossia, X-linked PMID:14729838|PMID:16247549|PMID:17868388|PMID:22784330|PMID:25741868|PMID:28492532|PMID:839509 8968493 Tbx22 T-box transcription factor 22 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8968493 Tbx22 T-box transcription factor 22 gene DOID:0111826 Abruzzo-Erickson syndrome ISO RGD:1343120 D RGD:7240710 20180130 OMIM 8968493 Tbx22 T-box transcription factor 22 gene DOID:0111826 Abruzzo-Erickson syndrome ISO RGD:1343120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abruzzo-Erickson syndrome PMID:22784330|PMID:25741868|PMID:839509 8968493 Tbx22 T-box transcription factor 22 gene DOID:12849 autistic disorder ISO RGD:1343120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8968493 Tbx22 T-box transcription factor 22 gene DOID:630 genetic disease ISO RGD:1343120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968493 Tbx22 T-box transcription factor 22 gene DOID:674 cleft palate ISO RGD:1343120 D RGD:9068941 20231214 RGD cleft palate with ankyloglossia, OMIM:303400 PMID:12374769|REF_RGD_ID:724722 8968493 Tbx22 T-box transcription factor 22 gene DOID:9000786 Cleft Palate with Ankyloglossia ISO RGD:1343120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate with ankyloglossia PMID:11559848|PMID:12374769|PMID:14729838|PMID:22784330|PMID:2563678 8968508 Ss18l2 SS18 like 2 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1347853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8968508 Ss18l2 SS18 like 2 gene DOID:630 genetic disease ISO RGD:1347853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968521 Dhx33 DEAH-box helicase 33 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1316314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 8968521 Dhx33 DEAH-box helicase 33 gene DOID:630 genetic disease ISO RGD:1316314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968540 Sh2d4b SH2 domain containing 4B gene DOID:630 genetic disease ISO RGD:1323129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968557 Rem2 RRAD and GEM like GTPase 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733550 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8968557 Rem2 RRAD and GEM like GTPase 2 gene DOID:630 genetic disease ISO RGD:733550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968557 Rem2 RRAD and GEM like GTPase 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733550 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8968557 Rem2 RRAD and GEM like GTPase 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733550 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8968584 Asb16 ankyrin repeat and SOCS box containing 16 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1313384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 8968584 Asb16 ankyrin repeat and SOCS box containing 16 gene DOID:630 genetic disease ISO RGD:1313384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968593 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:10286 prostate carcinoma ISO RGD:736097 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:12875974|REF_RGD_ID:2291960 8968593 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:3842 D RGD:9068941 20200609 RGD PMID:17054309|REF_RGD_ID:2291958 8968593 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:736097 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:15337562|REF_RGD_ID:2291959 8968593 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:630 genetic disease ISO RGD:736097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968593 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3842 D RGD:9068941 20200709 RGD mRNA,protein:decreased expression:brain PMID:30226536|REF_RGD_ID:35316073 8968593 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:3842 D RGD:9068941 20200709 RGD PMID:30226536|REF_RGD_ID:35316073 8968593 Tmbim6 transmembrane BAX inhibitor motif containing 6 gene DOID:9004009 Reperfusion Injury ISO RGD:3842 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:18005084|REF_RGD_ID:2291961 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0050770 polycystic liver disease ISO RGD:11105 D RGD:9068941 20200609 RGD PMID:9988265|REF_RGD_ID:14402035 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0050770 polycystic liver disease severity ISO RGD:11105 D RGD:9068941 20200609 RGD PMID:21685914|REF_RGD_ID:14402033 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:736706 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868|PMID:26467025 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0080322 polycystic kidney disease ISO RGD:736706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:10200984|PMID:10364515|PMID:10577909|PMID:10612835|PMID:10655152|PMID:10729710|PMID:10854095|PMID:10862097|PMID:10923038|PMID:10987650|PMID:11012875|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11316854|PMID:11558899|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12007219|PMID:12070253|PMID:12220456|PMID:12482949|PMID:12633844|PMID:12842373|PMID:15018634|PMID:15772804|PMID:15775720|PMID:15780078|PMID:16049073|PMID:16430766|PMID:1740684|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18257781|PMID:18350644|PMID:18640754|PMID:18791038|PMID:18837007|PMID:19158373|PMID:19165178|PMID:19515475|PMID:19686598|PMID:19759016|PMID:20301424|PMID:20558538|PMID:20837139|PMID:20950398|PMID:20981092|PMID:21115670|PMID:21314639|PMID:21551026|PMID:21694639|PMID:21706482|PMID:21744088|PMID:22008521|PMID:22034641|PMID:22090377|PMID:22185115|PMID:22333914|PMID:22383692|PMID:22406737|PMID:22508176|PMID:22608885|PMID:22995991|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23496908|PMID:23624871|PMID:23760289|PMID:23985799|PMID:24033266|PMID:24374109|PMID:24575920|PMID:24582653|PMID:24611717|PMID:24641620|PMID:24694054|PMID:24907393|PMID:25029430|PMID:25263802|PMID:25333066|PMID:25475747|PMID:25525159|PMID:25531466|PMID:25574838|PMID:25646624|PMID:25741868|PMID:25741892|PMID:25741893|PMID:25741900|PMID:25741910|PMID:25757501|PMID:25920554|PMID:26139440|PMID:26150605|PMID:26200945|PMID:26274329|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26632257|PMID:26661679|PMID:26718059|PMID:26795593|PMID:26823553|PMID:26938784|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27577987|PMID:27753196|PMID:27782177|PMID:27835667|PMID:27843768|PMID:27884173|PMID:27894351|PMID:28378423|PMID:29038287|PMID:29270497|PMID:29326913|PMID:29338003|PMID:29529603|PMID:29590654|PMID:29606500|PMID:29633482|PMID:29687770|PMID:29801666|PMID:29860066|PMID:30042192|PMID:30093605|PMID:30293987|PMID:30333007|PMID:30526451|PMID:30647506|PMID:30816285|PMID:30820006|PMID:30847201|PMID:30927425|PMID:30989420|PMID:31027891|PMID:31056860|PMID:31079206|PMID:31157564|PMID:31160911|PMID:31317121|PMID:31514750|PMID:31730820|PMID:31738409|PMID:31740684|PMID:31807928|PMID:31844813|PMID:32176464|PMID:32203225|PMID:32358097|PMID:32381729|PMID:32398770|PMID:32457805|PMID:32939031|PMID:33111320|PMID:33168999|PMID:33226606|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33555573|PMID:33602752|PMID:33639313|PMID:33964006|PMID:34008892|PMID:34486251|PMID:34906502|PMID:35368817|PMID:7581371|PMID:8004675|PMID:8554072|PMID:8792818|PMID:8845849|PMID:8911610|PMID:9044320|PMID:9192675|PMID:9199561|PMID:9285784|PMID:9345095|PMID:9452060|PMID:9521593|PMID:9668165 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0080322 polycystic kidney disease ISO RGD:736706 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:10200984|PMID:10364515|PMID:10577909|PMID:10612835|PMID:10655152|PMID:10729710|PMID:10854095|PMID:10862097|PMID:10923038|PMID:10987650|PMID:11012875|PMID:11058904|PMID:11115377|PMID:11140688|PMID:11216660|PMID:11316854|PMID:11558899|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12007219|PMID:12070253|PMID:12220456|PMID:12482949|PMID:12633844|PMID:12842373|PMID:15018634|PMID:15772804|PMID:15775720|PMID:15780078|PMID:16049073|PMID:16430766|PMID:1740684|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18257781|PMID:18350644|PMID:18640754|PMID:18791038|PMID:18837007|PMID:19158373|PMID:19165178|PMID:19515475|PMID:19686598|PMID:19759016|PMID:20301424|PMID:20558538|PMID:20837139|PMID:20950398|PMID:20981092|PMID:21115670|PMID:21314639|PMID:21551026|PMID:21694639|PMID:21706482|PMID:21744088|PMID:22008521|PMID:22034641|PMID:22090377|PMID:22185115|PMID:22333914|PMID:22383692|PMID:22406737|PMID:22508176|PMID:22608885|PMID:22995991|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23496908|PMID:23624871|PMID:23760289|PMID:23985799|PMID:24033266|PMID:24374109|PMID:24575920|PMID:24582653|PMID:24611717|PMID:24641620|PMID:24694054|PMID:24907393|PMID:25029430|PMID:25263802|PMID:25333066|PMID:25475747|PMID:25525159|PMID:25531466|PMID:25574838|PMID:25646624|PMID:25741868|PMID:25741892|PMID:25741893|PMID:25741900|PMID:25741910|PMID:25757501|PMID:25920554|PMID:26139440|PMID:26150605|PMID:26200945|PMID:26274329|PMID:26453610|PMID:26467025|PMID:26489027|PMID:26632257|PMID:26661679|PMID:26718059|PMID:26795593|PMID:26823553|PMID:26938784|PMID:26940125|PMID:26950445|PMID:27165007|PMID:27401137|PMID:27499327|PMID:27567292|PMID:27577987|PMID:27753196|PMID:27782177|PMID:27835667|PMID:27843768|PMID:27884173|PMID:27894351|PMID:28378423|PMID:29038287|PMID:29270497|PMID:29326913|PMID:29338003|PMID:29529603|PMID:29590654|PMID:29606500|PMID:29633482|PMID:29687770|PMID:29801666|PMID:29860066|PMID:30042192|PMID:30093605|PMID:30293987|PMID:30333007|PMID:30526451|PMID:30586318|PMID:30647506|PMID:30816285|PMID:30820006|PMID:30847201|PMID:30927425|PMID:30989420|PMID:31027891|PMID:31056860|PMID:31079206|PMID:31157564|PMID:31160911|PMID:31317121|PMID:31514750|PMID:31730820|PMID:31738409|PMID:31740684|PMID:31807928|PMID:31844813|PMID:32176464|PMID:32203225|PMID:32358097|PMID:32381729|PMID:32398770|PMID:32457805|PMID:32512653|PMID:32816041|PMID:32939031|PMID:33111320|PMID:33168999|PMID:33226606|PMID:33437033|PMID:33454723|PMID:33532864|PMID:33555573|PMID:33602752|PMID:33639313|PMID:33964006|PMID:34008892|PMID:34486251|PMID:34890546|PMID:34906502|PMID:35368817|PMID:35778421|PMID:36755831|PMID:37419908|PMID:7581371|PMID:8004675|PMID:8554072|PMID:8792818|PMID:8845849|PMID:8911610|PMID:9044320|PMID:9192675|PMID:9199561|PMID:9285784|PMID:9345095|PMID:9452060|PMID:9521593|PMID:9668165 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:11112665|PMID:15024740|PMID:15874888|PMID:16114042|PMID:17287951|PMID:17304050|PMID:21309039|PMID:21520333|PMID:22903760|PMID:24789117|PMID:25741868|PMID:27406250|PMID:28492532|PMID:29432982|PMID:9829910 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0110858 polycystic kidney disease 1 ISO RGD:736706 D RGD:7240710 20180725 OMIM 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0110858 polycystic kidney disease 1 ISO RGD:736706 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: PKD1-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 1 PMID:11115377|PMID:11967008|PMID:12482949|PMID:15772804|PMID:16430766|PMID:17574468|PMID:17582161|PMID:21115670|PMID:22508176|PMID:23064367|PMID:23300259|PMID:23431072|PMID:23760289|PMID:24694054|PMID:25333066|PMID:25741868|PMID:26467025|PMID:26632257|PMID:26950445|PMID:27499327|PMID:27753196|PMID:28378423|PMID:29687770|PMID:29801666|PMID:30333007|PMID:30586318|PMID:30820006|PMID:31056860|PMID:31738409|PMID:31740684|PMID:32203225|PMID:32381729|PMID:33532864|PMID:33964006 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0110860 polycystic kidney disease 3 ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease PMID:10364515|PMID:10854095|PMID:15772804|PMID:17582161|PMID:21115670|PMID:21694639|PMID:22090377|PMID:22383692|PMID:22508176|PMID:23431072|PMID:24374109|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26467025|PMID:26489027|PMID:26632257|PMID:26661679|PMID:27499327|PMID:27835667|PMID:30333007|PMID:30847201|PMID:31317121|PMID:31730820|PMID:31740684|PMID:33532864 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:26467025|PMID:29100090 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:1074 kidney failure ISO RGD:736706 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Renal failure 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:10763 hypertension ISO RGD:736706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension PMID:11115377|PMID:12482949|PMID:16430766|PMID:17574468|PMID:17582161|PMID:22508176|PMID:23064367|PMID:23431072|PMID:23760289|PMID:24694054|PMID:25333066|PMID:25741868|PMID:26467025|PMID:26632257|PMID:26950445|PMID:27499327|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31738409|PMID:32203225|PMID:32381729|PMID:33532864 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:10941 intracranial aneurysm susceptibility ISO RGD:736706 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:12842373|REF_RGD_ID:1580867 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:11836 clubfoot ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11105 D RGD:9068941 20220825 MouseDO 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:12215 oligohydramnios ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:13515 tuberous sclerosis ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis syndrome 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:1826 epilepsy ISO RGD:736706 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:2871 endometrial carcinoma ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:2975 cystic kidney disease ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:11115377|PMID:11967008|PMID:19515475|PMID:22508176|PMID:25741868|PMID:26467025 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:25741868 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:4606 bile duct cancer ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:12007219|PMID:16430766|PMID:17574468|PMID:25741868|PMID:26467025|PMID:27782177 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:519 aortitis ISO RGD:736706 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Large vessel vasculitis 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:576 proteinuria ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:630 genetic disease ISO RGD:736706 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11012875|PMID:11115377|PMID:11857740|PMID:11967008|PMID:12007219|PMID:12842373|PMID:1740684|PMID:17574468|PMID:17582161|PMID:19165178|PMID:20950398|PMID:22383692|PMID:22508176|PMID:23300259|PMID:23431072|PMID:23985799|PMID:24374109|PMID:24582653|PMID:24641620|PMID:24694054|PMID:24907393|PMID:25491204|PMID:25525159|PMID:25646624|PMID:25741868|PMID:25920554|PMID:26139440|PMID:26150605|PMID:26274329|PMID:26453610|PMID:26467025|PMID:26632257|PMID:26795593|PMID:27165007|PMID:27499327|PMID:27835667|PMID:28378423|PMID:29687770|PMID:29801666|PMID:30333007|PMID:30989420|PMID:31027891|PMID:31056860|PMID:31079206|PMID:31514750|PMID:31740684|PMID:31807928|PMID:31844813|PMID:32398770|PMID:32457805|PMID:32816041|PMID:33226606|PMID:33532864|PMID:33639313|PMID:34890546|PMID:36755831|PMID:9345095 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:783 end stage renal disease ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stage 5 chronic kidney disease PMID:25741868 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:784 chronic kidney disease ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:10200984|PMID:10364515|PMID:10854095|PMID:10987650|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12070253|PMID:12482949|PMID:15772804|PMID:16430766|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18640754|PMID:18837007|PMID:19165178|PMID:19515475|PMID:20301424|PMID:20558538|PMID:20981092|PMID:21115670|PMID:22008521|PMID:22090377|PMID:22383692|PMID:22508176|PMID:22608885|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23760289|PMID:24033266|PMID:24374109|PMID:24694054|PMID:25029430|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26453610|PMID:26467025|PMID:26632257|PMID:26661679|PMID:26950445|PMID:27499327|PMID:27567292|PMID:27835667|PMID:27884173|PMID:27894351|PMID:29650765|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31157564|PMID:31738409|PMID:32203225|PMID:32457805|PMID:33168999|PMID:33532864|PMID:9521593 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736706 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:10200984|PMID:10364515|PMID:10854095|PMID:10923038|PMID:10987650|PMID:11058904|PMID:11115377|PMID:11216660|PMID:11840199|PMID:11857740|PMID:11967008|PMID:12070253|PMID:12482949|PMID:15772804|PMID:16430766|PMID:17574468|PMID:17582161|PMID:18077784|PMID:18640754|PMID:18791038|PMID:18837007|PMID:19165178|PMID:19515475|PMID:20301424|PMID:20558538|PMID:20981092|PMID:21115670|PMID:22008521|PMID:22090377|PMID:22333914|PMID:22383692|PMID:22508176|PMID:22608885|PMID:23064367|PMID:23266634|PMID:23300259|PMID:23431072|PMID:23760289|PMID:23985799|PMID:24033266|PMID:24374109|PMID:24611717|PMID:24694054|PMID:25029430|PMID:25333066|PMID:25646624|PMID:25741868|PMID:26139440|PMID:26453610|PMID:26467025|PMID:26632257|PMID:26661679|PMID:26823553|PMID:26950445|PMID:27165007|PMID:27499327|PMID:27567292|PMID:27782177|PMID:27835667|PMID:27884173|PMID:27894351|PMID:28378423|PMID:29270497|PMID:29633482|PMID:29650765|PMID:29801666|PMID:30333007|PMID:31056860|PMID:31157564|PMID:31738409|PMID:31740684|PMID:32203225|PMID:32381729|PMID:32457805|PMID:33168999|PMID:33532864|PMID:35778421|PMID:37419908|PMID:9199561|PMID:9285784|PMID:9521593 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:898 autosomal dominant polycystic kidney disease severity ISO RGD:11105 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R3277C (mouse) PMID:23064367|REF_RGD_ID:7175280 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:736706 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:17582161|PMID:21744088|PMID:22185115|PMID:25263802|PMID:25333066|PMID:25741868|PMID:26467025|PMID:31844813|PMID:33532864|PMID:9668165 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:736706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:9006205 Animal Disease Models ISO RGD:736706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25877301 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:9006554 Pancreatic Cyst ISO RGD:736706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic cysts PMID:25741868 8968612 Pkd1 polycystin 1, transient receptor potential channel interacting gene DOID:9007583 Cysts ISO RGD:736706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685914 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0050451 Brugada syndrome ISO RGD:1347000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:19122847|PMID:19306396|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28855170|PMID:29247119 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0050700 cardiomyopathy ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1347000 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0110223 Brugada syndrome 6 ISO RGD:1347000 D RGD:7240710 20180130 OMIM 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:0110223 Brugada syndrome 6 ISO RGD:1347000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 6 PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16313760|PMID:16449802|PMID:17395131|PMID:18209471|PMID:19122847|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690|PMID:28855170|PMID:29247119|PMID:30847666 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:1059 intellectual disability ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:14452 hypokalemic periodic paralysis ISO RGD:1347000 D RGD:9068941 20200609 RGD PMID:11207363|REF_RGD_ID:1600040 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:2843 long QT syndrome ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:25741868|PMID:28492532 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:630 genetic disease ISO RGD:1347000 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9000727 Syncope ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1347000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:19122847|PMID:19306396|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28855170|PMID:29247119 8968662 Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 gene DOID:9007560 Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities ISO RGD:1347000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | ClinVar Annotator: match by term: LIPOYLTRANSFERASE 2 DEFICIENCY PMID:11207363|PMID:12414843|PMID:14504341|PMID:15037716|PMID:15212652|PMID:16449802|PMID:17395131|PMID:19306396|PMID:22987075|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28747690 8968687 Dgkd diacylglycerol kinase delta gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:1323100 D RGD:9068941 20220825 MouseDO OMIM:606369 8968687 Dgkd diacylglycerol kinase delta gene DOID:0060476 Perlman syndrome ISO RGD:1323099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8968687 Dgkd diacylglycerol kinase delta gene DOID:0110991 Joubert syndrome 22 ISO RGD:1323099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8968687 Dgkd diacylglycerol kinase delta gene DOID:12930 dilated cardiomyopathy ISO RGD:1323099 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 8968687 Dgkd diacylglycerol kinase delta gene DOID:630 genetic disease ISO RGD:1323099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8968687 Dgkd diacylglycerol kinase delta gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 8968739 Catsper3 cation channel sperm associated 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8968739 Catsper3 cation channel sperm associated 3 gene DOID:630 genetic disease ISO RGD:1313883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968739 Catsper3 cation channel sperm associated 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8968739 Catsper3 cation channel sperm associated 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313883 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8968754 Zc2hc1a zinc finger C2HC-type containing 1A gene DOID:630 genetic disease ISO RGD:1602891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968765 Rhbdf1 rhomboid 5 homolog 1 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1312890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 8968765 Rhbdf1 rhomboid 5 homolog 1 gene DOID:630 genetic disease ISO RGD:1312890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968791 Emc9 ER membrane protein complex subunit 9 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1317698 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8968791 Emc9 ER membrane protein complex subunit 9 gene DOID:630 genetic disease ISO RGD:1317698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968791 Emc9 ER membrane protein complex subunit 9 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1317698 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8968791 Emc9 ER membrane protein complex subunit 9 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317698 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:733858 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2656070, rs13180(human) PMID:16914832|REF_RGD_ID:6893299 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:11758 iron deficiency anemia ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:increased expression:duodenal mucosa (rat) PMID:18549630|REF_RGD_ID:12904038 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:11758 iron deficiency anemia ISO RGD:621539 D RGD:9068941 20200609 RGD protein:altered activity:intestinal villus of duodenum (rat) PMID:10095770|REF_RGD_ID:12910699 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:1289 neurodegenerative disease ISO RGD:736754 D RGD:9068941 20200609 RGD PMID:18685102|REF_RGD_ID:6893298 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:2018 hyperinsulinism ISO RGD:621539 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:25385842|REF_RGD_ID:12903966 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:2355 anemia ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (rat) PMID:27602087|REF_RGD_ID:12903962 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:2355 anemia treatment ISO RGD:621539 D RGD:9068941 20200609 RGD PMID:26584806|REF_RGD_ID:12903965 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:2367 neuroaxonal dystrophy ISO RGD:736754 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:26506412|REF_RGD_ID:11344088 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:2717 Bloom syndrome ISO RGD:733858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:3910 lung adenocarcinoma ISO RGD:733858 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:630 genetic disease ISO RGD:733858 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:27602087|REF_RGD_ID:12903962 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:733858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:9004756 Brain Hypoxia ISO RGD:621539 D RGD:9068941 20200609 RGD protein:increased expression:periventricular white matter (rat) PMID:22159112|REF_RGD_ID:6893269 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:9005725 Iron Overload ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:19943190|REF_RGD_ID:6893272 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:621539 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:23229539|REF_RGD_ID:12904023 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:9008550 Vitamin A Deficiency ISO RGD:621539 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22154532|REF_RGD_ID:12904026 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:9009167 NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA ISO RGD:733858 D RGD:7240710 20190918 OMIM 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:9009167 NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA ISO RGD:733858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia PMID:25741868|PMID:28492532|PMID:30915432|PMID:31243445 8968803 Ireb2 iron responsive element binding protein 2 gene DOID:9256 colorectal cancer ISO RGD:733858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8968829 Abhd15 abhydrolase domain containing 15 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8968829 Abhd15 abhydrolase domain containing 15 gene DOID:630 genetic disease ISO RGD:1605591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968861 Tmem181 transmembrane protein 181 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1350892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8968861 Tmem181 transmembrane protein 181 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1350892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 8968861 Tmem181 transmembrane protein 181 gene DOID:630 genetic disease ISO RGD:1350892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968888 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8968888 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 8968888 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8968888 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8968888 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1348831 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8968888 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8968888 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:5812 MHC class II deficiency ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8968888 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:630 genetic disease ISO RGD:1348831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968888 Rxfp4 relaxin family peptide/INSL5 receptor 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8968893 Ttyh3 tweety family member 3 gene DOID:0111957 immunodeficiency 11A ISO RGD:1319948 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 8968893 Ttyh3 tweety family member 3 gene DOID:630 genetic disease ISO RGD:1319948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968915 Pea15 proliferation and apoptosis adaptor protein 15 gene DOID:0060178 familial hemiplegic migraine ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 8968915 Pea15 proliferation and apoptosis adaptor protein 15 gene DOID:0080486 peroxisome biogenesis disorder 12A ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) PMID:28492532 8968915 Pea15 proliferation and apoptosis adaptor protein 15 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8968915 Pea15 proliferation and apoptosis adaptor protein 15 gene DOID:1540 parathyroid carcinoma ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8968915 Pea15 proliferation and apoptosis adaptor protein 15 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8968915 Pea15 proliferation and apoptosis adaptor protein 15 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8968923 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1320522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8968923 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:1059 intellectual disability ISO RGD:1320522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8968923 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:1909 melanoma ISO RGD:1320522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8968923 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8968923 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:2746 glycogen storage disease V ISO RGD:1320522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8968923 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:3070 high grade glioma ISO RGD:1320522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8968923 Mrpl49 mitochondrial ribosomal protein L49 gene DOID:630 genetic disease ISO RGD:1320522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968946 Nhlh1 nescient helix-loop-helix 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8968946 Nhlh1 nescient helix-loop-helix 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1321059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8968946 Nhlh1 nescient helix-loop-helix 1 gene DOID:630 genetic disease ISO RGD:1321059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8968946 Nhlh1 nescient helix-loop-helix 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8968950 Aaas aladin WD repeat nucleoporin gene DOID:0050602 triple-A syndrome ISO RGD:1318625 D RGD:7240710 20180130 OMIM 8968950 Aaas aladin WD repeat nucleoporin gene DOID:0050602 triple-A syndrome ISO RGD:1318625 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ACTH-resistant adrenal insufficiency, achalasia and alacrima | ClinVar Annotator: match by term: Achalasia alacrima syndrome | ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome | ClinVar Annotator: match by term: Achalasia-addisonianism-alacrimia syndrome | ClinVar Annotator: match by term: Achalasia-alacrima syndrome PMID:11062474|PMID:11159947|PMID:11701718|PMID:11914417|PMID:12429595|PMID:12548737|PMID:12700313|PMID:12730363|PMID:12752575|PMID:15173230|PMID:15516781|PMID:15666842|PMID:16098009|PMID:16199547|PMID:16609705|PMID:18172684|PMID:18261130|PMID:18414213|PMID:18615337|PMID:18628786|PMID:20674935|PMID:22538409|PMID:25741868|PMID:26243364|PMID:26595337|PMID:27133709|PMID:28492532|PMID:29180348|PMID:29255950|PMID:29874194|PMID:30069287|PMID:30455725|PMID:31600784|PMID:31937715|PMID:32146693|PMID:32700293|PMID:35570467 8968950 Aaas aladin WD repeat nucleoporin gene DOID:10907 microcephaly ISO RGD:1318625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8968950 Aaas aladin WD repeat nucleoporin gene DOID:630 genetic disease ISO RGD:1318625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11159947|PMID:12752575|PMID:18172684|PMID:22538409|PMID:25741868|PMID:26243364|PMID:28492532|PMID:29255950|PMID:30455725 8968950 Aaas aladin WD repeat nucleoporin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8968950 Aaas aladin WD repeat nucleoporin gene DOID:9002598 Spastic Paraparesis ISO RGD:1318625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:11159947|PMID:12752575|PMID:18172684|PMID:22538409|PMID:25741868|PMID:26243364|PMID:28492532|PMID:29255950|PMID:30455725 8968950 Aaas aladin WD repeat nucleoporin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11062474|PMID:11914417|PMID:25741868 8968950 Aaas aladin WD repeat nucleoporin gene DOID:9005219 Abnormal Reflexes ISO RGD:1318625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:11159947|PMID:12752575|PMID:18172684|PMID:22538409|PMID:25741868|PMID:26243364|PMID:28492532|PMID:29255950|PMID:30455725 8968950 Aaas aladin WD repeat nucleoporin gene DOID:9006534 Nervous System Malformations ISO RGD:1318625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8968950 Aaas aladin WD repeat nucleoporin gene DOID:9164 achalasia ISO RGD:1318625 D RGD:9068941 20200609 RGD PMID:16098009|REF_RGD_ID:1598514 8968973 Sbk2 SH3 domain binding kinase family member 2 gene DOID:630 genetic disease ISO RGD:2302831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969024 Rwdd2b RWD domain containing 2B gene DOID:630 genetic disease ISO RGD:1312868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969042 Gal3st4 galactose-3-O-sulfotransferase 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8969042 Gal3st4 galactose-3-O-sulfotransferase 4 gene DOID:630 genetic disease ISO RGD:1351990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969052 Tek TEK receptor tyrosine kinase gene DOID:0001816 angiosarcoma ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 8969052 Tek TEK receptor tyrosine kinase gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:1342531 D RGD:7240710 20180130 OMIM 8969052 Tek TEK receptor tyrosine kinase gene DOID:0050792 multiple cutaneous and mucosal venous malformations ISO RGD:1342531 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component PMID:10369874|PMID:19888299|PMID:20301733|PMID:25326635|PMID:25741868|PMID:26319232|PMID:27270174|PMID:28492532|PMID:7783168|PMID:7833915|PMID:8415706|PMID:8980225|PMID:9926914 8969052 Tek TEK receptor tyrosine kinase gene DOID:10808 gastric ulcer ISO RGD:620980 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:12768384|REF_RGD_ID:1601496 8969052 Tek TEK receptor tyrosine kinase gene DOID:11294 arteriovenous malformation susceptibility ISO RGD:1342531 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R849W PMID:8980225|REF_RGD_ID:1578533 8969052 Tek TEK receptor tyrosine kinase gene DOID:12176 goiter ISO RGD:620980 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:11397875|REF_RGD_ID:1601510 8969052 Tek TEK receptor tyrosine kinase gene DOID:12556 acute kidney tubular necrosis ISO RGD:620980 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury PMID:16284088|REF_RGD_ID:1601494 8969052 Tek TEK receptor tyrosine kinase gene DOID:2316 brain ischemia ISO RGD:620980 D RGD:9068941 20200609 RGD PMID:11919509|REF_RGD_ID:634324 8969052 Tek TEK receptor tyrosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 8969052 Tek TEK receptor tyrosine kinase gene DOID:3393 coronary artery disease ISO RGD:1342531 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12814387|REF_RGD_ID:1601489 8969052 Tek TEK receptor tyrosine kinase gene DOID:5176 renal Wilms' tumor ISO RGD:1342531 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 8969052 Tek TEK receptor tyrosine kinase gene DOID:5844 myocardial infarction ISO RGD:620980 D RGD:9068941 20200609 RGD protein:increased expression:ventricle myocardium PMID:16714360|REF_RGD_ID:1601493 8969052 Tek TEK receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1342531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8969052 Tek TEK receptor tyrosine kinase gene DOID:6432 pulmonary hypertension ISO RGD:1342531 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:16917117|REF_RGD_ID:1601487 8969052 Tek TEK receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:620980 D RGD:9068941 20200609 RGD protein:increased expression PMID:16951510|REF_RGD_ID:1601490 8969052 Tek TEK receptor tyrosine kinase gene DOID:9000388 BOCKENHEIMER SYNDROME ISO RGD:1342531 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Bockenheimer syndrome PMID:25741868 8969052 Tek TEK receptor tyrosine kinase gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1342531 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 8969052 Tek TEK receptor tyrosine kinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956651 8969052 Tek TEK receptor tyrosine kinase gene DOID:9002428 Blue Rubber Bleb Nevus Syndrome ISO RGD:1342531 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Blue rubber bleb nevus PMID:10369874|PMID:20301733|PMID:25741868 8969052 Tek TEK receptor tyrosine kinase gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1342531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:10369874|PMID:19888299|PMID:20301733|PMID:25741868|PMID:26319232|PMID:28492532|PMID:7783168|PMID:7833915|PMID:8415706|PMID:8980225|PMID:9926914 8969052 Tek TEK receptor tyrosine kinase gene DOID:9003191 Vascular Malformations ISO RGD:1342531 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Vascular malformation PMID:25741868 8969052 Tek TEK receptor tyrosine kinase gene DOID:9003204 Neovascularization, Pathologic ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 8969052 Tek TEK receptor tyrosine kinase gene DOID:9005164 Primary Congenital Glaucoma 3, E ISO RGD:1342531 D RGD:7240710 20190315 OMIM 8969052 Tek TEK receptor tyrosine kinase gene DOID:9005164 Primary Congenital Glaucoma 3, E ISO RGD:1342531 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, E | ClinVar Annotator: match by term: TEK-related condition PMID:25741868|PMID:27270174|PMID:28492532 8969052 Tek TEK receptor tyrosine kinase gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:1342531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8969052 Tek TEK receptor tyrosine kinase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620980 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:12737621|REF_RGD_ID:1601505 8969052 Tek TEK receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1342531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:19340004|PMID:28492532 8969088 Pih1d2 PIH1 domain containing 2 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1605009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8969088 Pih1d2 PIH1 domain containing 2 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1605009 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8969088 Pih1d2 PIH1 domain containing 2 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 8969088 Pih1d2 PIH1 domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8969088 Pih1d2 PIH1 domain containing 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8969088 Pih1d2 PIH1 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8969088 Pih1d2 PIH1 domain containing 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1605009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8969088 Pih1d2 PIH1 domain containing 2 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1605009 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:16049940|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8969105 Pabpc4l poly(A) binding protein cytoplasmic 4 like gene DOID:630 genetic disease ISO RGD:2290032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969128 Sapcd1 suppressor APC domain containing 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1352760 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8969128 Sapcd1 suppressor APC domain containing 1 gene DOID:630 genetic disease ISO RGD:1352760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969136 Ndfip1 Nedd4 family interacting protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8969136 Ndfip1 Nedd4 family interacting protein 1 gene DOID:630 genetic disease ISO RGD:1320732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969136 Ndfip1 Nedd4 family interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8969136 Ndfip1 Nedd4 family interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8969136 Ndfip1 Nedd4 family interacting protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8969136 Ndfip1 Nedd4 family interacting protein 1 gene DOID:9007096 Stroke ISO RGD:1310053 D RGD:9068941 20200609 RGD PMID:22417925|REF_RGD_ID:6893327 8969148 Ovol1 ovo like transcriptional repressor 1 gene DOID:1059 intellectual disability ISO RGD:1315865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8969148 Ovol1 ovo like transcriptional repressor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8969148 Ovol1 ovo like transcriptional repressor 1 gene DOID:2746 glycogen storage disease V ISO RGD:1315865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8969148 Ovol1 ovo like transcriptional repressor 1 gene DOID:3310 atopic dermatitis ISO RGD:1315865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042114 8969148 Ovol1 ovo like transcriptional repressor 1 gene DOID:5374 pilomatrixoma ISO RGD:1315865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26873447 8969148 Ovol1 ovo like transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1315865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969148 Ovol1 ovo like transcriptional repressor 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1315865 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8969148 Ovol1 ovo like transcriptional repressor 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1315865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11527630|PMID:11901046|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:20129283|PMID:21646736|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25301907|PMID:25437880|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29247119|PMID:29911575|PMID:29992996|PMID:30099632|PMID:30135145|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31780880|PMID:32581362|PMID:32948286|PMID:33352116|PMID:9536098 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:20129283|PMID:21646736|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:32581362|PMID:32948286|PMID:33352116|PMID:9536098 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:19763152|PMID:20129283|PMID:20307669|PMID:21270786|PMID:21646736|PMID:22406018|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25974703|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31928344|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:33352116|PMID:34385907|PMID:9536098 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0050451 Brugada syndrome ISO RGD:1349086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:19763152|PMID:20129283|PMID:20307669|PMID:21646736|PMID:22406018|PMID:22789973|PMID:23115331|PMID:23986244|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28106320|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31928344|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:33352116|PMID:34385907|PMID:9536098 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0060224 atrial fibrillation ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:29892015|PMID:30061737 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1349086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:28492532 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0081075 Marsili syndrome ISO RGD:1349086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Impaired thermal sensitivity PMID:25741868|PMID:28492532|PMID:32581362 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0110218 Brugada syndrome 1 ISO RGD:1349086 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:24998131|PMID:25053638|PMID:25085921|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:26733327|PMID:27711072|PMID:27884173|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29874177|PMID:30662450|PMID:30664616|PMID:32581362 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0111730 familial episodic pain syndrome 2 ISO RGD:1349086 D RGD:7240710 20180130 OMIM 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:0111730 familial episodic pain syndrome 2 ISO RGD:1349086 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Episodic pain syndrome, familial, 2 PMID:17576681|PMID:23115331|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:26220970|PMID:26423924|PMID:26733327|PMID:27711072|PMID:28074886|PMID:28078312|PMID:28106320|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29247119|PMID:29874177|PMID:29911575|PMID:30135145|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30821013|PMID:31195250|PMID:31780880|PMID:31928344|PMID:32581362|PMID:32917565|PMID:32948286|PMID:9536098 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:11446 sciatic neuropathy ISO RGD:3629 D RGD:9068941 20200609 RGD PMID:21965668|REF_RGD_ID:6484251 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:630 genetic disease ISO RGD:1349086 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11527630|PMID:11901046|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16943940|PMID:18355654|PMID:21646736|PMID:23115331|PMID:24998131|PMID:25053638|PMID:25301907|PMID:25437880|PMID:25741868|PMID:28078312|PMID:28106320|PMID:28492532|PMID:31928344 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062061 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9002211 Hyperalgesia ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16545521 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9002211 Hyperalgesia ISO RGD:3629 D RGD:9068941 20200609 RGD PMID:19070548|REF_RGD_ID:6484253 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1349086 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:11527630|PMID:11901046|PMID:12097481|PMID:12417552|PMID:1309182|PMID:15381640|PMID:15655131|PMID:16199547|PMID:16943940|PMID:17576681|PMID:18355654|PMID:21646736|PMID:23115331|PMID:24820863|PMID:24998131|PMID:25053638|PMID:25085921|PMID:25250524|PMID:25301907|PMID:25437880|PMID:25650408|PMID:25691538|PMID:25691686|PMID:25741868|PMID:25842276|PMID:25998140|PMID:26220970|PMID:26423924|PMID:26711856|PMID:26733327|PMID:27272739|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074849|PMID:28074886|PMID:28078312|PMID:28166811|PMID:28407228|PMID:28492532|PMID:29016797|PMID:29181379|PMID:29247119|PMID:29264398|PMID:29273096|PMID:29502107|PMID:29874177|PMID:29884292|PMID:29911575|PMID:29992996|PMID:30086531|PMID:30099632|PMID:30135145|PMID:30177317|PMID:30403391|PMID:30554136|PMID:30662450|PMID:30664616|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31106349|PMID:31195250|PMID:31292628|PMID:31571979|PMID:31780880|PMID:31977013|PMID:32581362|PMID:32917565|PMID:32948286|PMID:34385907|PMID:9536098 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9003163 Heart Block ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062061 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9005968 Neuralgia ISO RGD:1349086 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1349086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8969156 Scn10a sodium voltage-gated channel alpha subunit 10 gene DOID:9240 erythromelalgia ISO RGD:1349086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy PMID:25741868|PMID:28492532 8969200 Scml1 Scm polycomb group protein like 1 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1343784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8969200 Scml1 Scm polycomb group protein like 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8969200 Scml1 Scm polycomb group protein like 1 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1343784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:19780792|PMID:21770923|PMID:22872100|PMID:23184456|PMID:25315662|PMID:28492532|PMID:30945684 8969200 Scml1 Scm polycomb group protein like 1 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1343784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8969200 Scml1 Scm polycomb group protein like 1 gene DOID:12849 autistic disorder ISO RGD:1343784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8969200 Scml1 Scm polycomb group protein like 1 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1343784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8969200 Scml1 Scm polycomb group protein like 1 gene DOID:630 genetic disease ISO RGD:1343784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969200 Scml1 Scm polycomb group protein like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8969212 Ddt D-dopachrome tautomerase gene DOID:1826 epilepsy ISO RGD:1353002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8969212 Ddt D-dopachrome tautomerase gene DOID:5419 schizophrenia ISO RGD:1353002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8969212 Ddt D-dopachrome tautomerase gene DOID:630 genetic disease ISO RGD:1353002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969235 Hspa13 heat shock protein family A (Hsp70) member 13 gene DOID:10652 Alzheimer's disease ISO RGD:735529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562 8969235 Hspa13 heat shock protein family A (Hsp70) member 13 gene DOID:630 genetic disease ISO RGD:735529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969235 Hspa13 heat shock protein family A (Hsp70) member 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8969247 Wdr45b WD repeat domain 45B gene DOID:1059 intellectual disability ISO RGD:1350558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8969247 Wdr45b WD repeat domain 45B gene DOID:630 genetic disease ISO RGD:1350558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969247 Wdr45b WD repeat domain 45B gene DOID:9009173 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures ISO RGD:1350558 D RGD:7240710 20190315 OMIM 8969247 Wdr45b WD repeat domain 45B gene DOID:9009173 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures ISO RGD:1350558 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures PMID:25741868|PMID:27431290|PMID:28492532 8969263 Spef2 sperm flagellar 2 gene DOID:0111917 spermatogenic failure 43 ISO RGD:1605340 D RGD:7240710 20200226 OMIM 8969263 Spef2 sperm flagellar 2 gene DOID:0111917 spermatogenic failure 43 ISO RGD:1605340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 43 PMID:24033266|PMID:25741868|PMID:28492532|PMID:31048344|PMID:31151990|PMID:31278745 8969263 Spef2 sperm flagellar 2 gene DOID:5419 schizophrenia ISO RGD:1605340 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8969263 Spef2 sperm flagellar 2 gene DOID:630 genetic disease ISO RGD:1605340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969263 Spef2 sperm flagellar 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8969263 Spef2 sperm flagellar 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605340 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:31942643 8969322 Lims1 LIM zinc finger domain containing 1 gene DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 ISO RGD:1313937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 8969322 Lims1 LIM zinc finger domain containing 1 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1313937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 8969322 Lims1 LIM zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1313937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969322 Lims1 LIM zinc finger domain containing 1 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1313937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 8969352 Atf6b activating transcription factor 6 beta gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8969352 Atf6b activating transcription factor 6 beta gene DOID:630 genetic disease ISO RGD:1346168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969382 Tmem115 transmembrane protein 115 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 8969382 Tmem115 transmembrane protein 115 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605401 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 8969382 Tmem115 transmembrane protein 115 gene DOID:630 genetic disease ISO RGD:1605401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969382 Tmem115 transmembrane protein 115 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605401 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8969392 Fam162a family with sequence similarity 162 member A gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1603057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8969392 Fam162a family with sequence similarity 162 member A gene DOID:630 genetic disease ISO RGD:1603057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969392 Fam162a family with sequence similarity 162 member A gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 8969392 Fam162a family with sequence similarity 162 member A gene DOID:9270 alkaptonuria ISO RGD:1603057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8969401 Ubald1 UBA like domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8969401 Ubald1 UBA like domain containing 1 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 8969401 Ubald1 UBA like domain containing 1 gene DOID:1826 epilepsy ISO RGD:1604544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8969401 Ubald1 UBA like domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604544 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8969401 Ubald1 UBA like domain containing 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604544 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8969401 Ubald1 UBA like domain containing 1 gene DOID:630 genetic disease ISO RGD:1604544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969409 Krt71 keratin 71 gene DOID:0110710 hypotrichosis 13 ISO RGD:1604251 D RGD:7240710 20180130 OMIM 8969409 Krt71 keratin 71 gene DOID:0110710 hypotrichosis 13 ISO RGD:1604251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis 13 PMID:22592156|PMID:25741868 8969409 Krt71 keratin 71 gene DOID:305 carcinoma ISO RGD:1604251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8969409 Krt71 keratin 71 gene DOID:4535 hypotrichosis ISO RGD:1604251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8969409 Krt71 keratin 71 gene DOID:630 genetic disease ISO RGD:1604251 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8969409 Krt71 keratin 71 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1604251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8969409 Krt71 keratin 71 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1604251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8969409 Krt71 keratin 71 gene DOID:987 alopecia ISO RGD:1584538 D RGD:9068941 20211022 RGD DNA:deletion:cds:intron 1, p.Val149_Gln154 del PMID:20179389|REF_RGD_ID:11570415 8969423 Arhgef33 Rho guanine nucleotide exchange factor 33 gene DOID:0080690 RASopathy ISO RGD:3516342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8969423 Arhgef33 Rho guanine nucleotide exchange factor 33 gene DOID:3883 Lynch syndrome ISO RGD:3516342 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8969423 Arhgef33 Rho guanine nucleotide exchange factor 33 gene DOID:630 genetic disease ISO RGD:3516342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969423 Arhgef33 Rho guanine nucleotide exchange factor 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:3516342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8969445 Dnajc8 DnaJ heat shock protein family (Hsp40) member C8 gene DOID:630 genetic disease ISO RGD:1314401 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969464 Ccdc28b coiled-coil domain containing 28B gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603961 D RGD:7240710 20180130 OMIM 8969464 Ccdc28b coiled-coil domain containing 28B gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603961 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of PMID:12677556|PMID:16327777|PMID:25741868|PMID:28492532|PMID:29127258 8969464 Ccdc28b coiled-coil domain containing 28B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12677556|PMID:16327777|PMID:29127258 8969464 Ccdc28b coiled-coil domain containing 28B gene DOID:630 genetic disease ISO RGD:1603961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969485 Dis3l2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:0060476 Perlman syndrome ISO RGD:1604754 D RGD:7240710 20180130 OMIM 8969485 Dis3l2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:0060476 Perlman syndrome ISO RGD:1604754 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:10508986|PMID:16199547|PMID:16957732|PMID:17576681|PMID:22306653|PMID:23486540|PMID:23576526|PMID:23594738|PMID:23613427|PMID:23756462|PMID:24141620|PMID:25640679|PMID:25670083|PMID:25741868|PMID:25741875|PMID:26689913|PMID:27153395|PMID:27431325|PMID:28328139|PMID:28492532|PMID:29625052|PMID:30344923|PMID:30359267|PMID:31350202|PMID:31942411|PMID:33332384|PMID:33719213|PMID:34130653|PMID:35495172|PMID:6093533|PMID:9536098 8969485 Dis3l2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1604754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8969485 Dis3l2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:2154 nephroblastoma ISO RGD:1604754 D RGD:9068941 20200609 RGD DNA:missense mutations, deletions:multiple (human) PMID:22306653|REF_RGD_ID:11558020 8969485 Dis3l2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1604754 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 8969485 Dis3l2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:630 genetic disease ISO RGD:1604754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25670083|PMID:25741868|PMID:28492532|PMID:30344923|PMID:30359267 8969485 Dis3l2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:687 hepatoblastoma ISO RGD:1604754 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532|PMID:35495172 8969485 Dis3l2 DIS3 like 3'-5' exoribonuclease 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604754 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8969526 Dsg3 desmoglein 3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1348238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 8969526 Dsg3 desmoglein 3 gene DOID:0060851 pemphigus vulgaris ISO RGD:1620126 D RGD:9068941 20220825 MouseDO OMIM:169610 8969526 Dsg3 desmoglein 3 gene DOID:1059 intellectual disability ISO RGD:1348238 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8969526 Dsg3 desmoglein 3 gene DOID:630 genetic disease ISO RGD:1348238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969526 Dsg3 desmoglein 3 gene DOID:9005119 BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA ISO RGD:1348238 D RGD:7240710 20210407 OMIM 8969526 Dsg3 desmoglein 3 gene DOID:9005119 BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA ISO RGD:1348238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa PMID:30528827 8969546 Znf12 zinc finger protein 12 gene DOID:630 genetic disease ISO RGD:1349914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:0080027 spondyloepimetaphyseal dysplasia ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type ISO RGD:1343267 D RGD:7240710 20180130 OMIM 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type ISO RGD:1343267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MMP13-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type PMID:16167086|PMID:25741868|PMID:28492532|PMID:30439533|PMID:8412645 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:0080176 meningococcal meningitis ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:10430840|REF_RGD_ID:8547971 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:10283 prostate cancer disease_progression ISO RGD:1343267 D RGD:9068941 20200609 RGD protein:increased expression:plasma:higher concentration in patients with metastases vs non-metastatic PCa, BPH or control patients PMID:15517230|REF_RGD_ID:2293604 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:10325 silicosis ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, fibroblast PMID:9614183|REF_RGD_ID:10043156 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:1059 intellectual disability ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:10808 gastric ulcer ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach PMID:15375341|REF_RGD_ID:10043177 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:11054 urinary bladder cancer ISO RGD:1343267 D RGD:9068941 20200609 RGD urinary bladder transitional-cell carcinomas; mRNA:increased expression:tumor:13/23 (52%) tumors vs no expression in normal urothelium, expression at the invading edge of tumors PMID:11054671|REF_RGD_ID:2293609 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:1245 vulva cancer ISO RGD:1343267 D RGD:9068941 20200609 RGD vulvar squamous cell carcinoma (SCC); mRNA:increased expression:tumor:expressed in 9/12 tumors but not in normal vulvar epithelium, cervical SCCs, or endometrial or ovarian adenocarcinomas PMID:10027405|REF_RGD_ID:2293612 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:12704 ataxia telangiectasia ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:12930 dilated cardiomyopathy ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:16037568|REF_RGD_ID:1582576 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:13714 anodontia ISO RGD:1343267 D RGD:9068941 20200609 RGD DNA:SNP: :rs2252070 (human) PMID:24351915|REF_RGD_ID:13204812 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:16286264|REF_RGD_ID:10043176 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:2316 brain ischemia ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:16112096|REF_RGD_ID:1582554 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:2349 arteriosclerosis ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:16230484|REF_RGD_ID:1582544 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:12392760|REF_RGD_ID:1582549 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1343267 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:tumor:associated with microinvasion during the transition from ductal carcinoma in situ to invasive carcinoma, also expressed in all invasive ductal carcinomas tested PMID:11585740|REF_RGD_ID:2293606 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:4001 ovarian carcinoma ISO RGD:1343267 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:19258954|REF_RGD_ID:2306074 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:12974393|REF_RGD_ID:2306083 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:4362 cervical cancer ISO RGD:1343267 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine cervix PMID:17243165|REF_RGD_ID:2306082 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:5082 liver cirrhosis ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:21382168|REF_RGD_ID:7207361 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:5844 myocardial infarction ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:15782494|REF_RGD_ID:1582556 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:6000 congestive heart failure ISO RGD:620196 D RGD:9068941 20200609 RGD associated with Hypertension PMID:10773234|REF_RGD_ID:2290467 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:6000 congestive heart failure disease_progression ISO RGD:620196 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle (rat) PMID:10773235|REF_RGD_ID:1582587 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:630 genetic disease ISO RGD:1343267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:15156361|REF_RGD_ID:1582548 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:7693 abdominal aortic aneurysm no_association ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:15944607|REF_RGD_ID:1580157 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:824 periodontitis ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:19393988|REF_RGD_ID:10043174 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:11134178|PMID:16128596|REF_RGD_ID:10043117|REF_RGD_ID:7207089 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:23982761|REF_RGD_ID:10043101 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cartilage PMID:17530714|REF_RGD_ID:2300093 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:8398 osteoarthritis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:22890185|REF_RGD_ID:7207218 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:90 degenerative disc disease ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA:increased expression:intervertebral disc PMID:20948465|REF_RGD_ID:8661231 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:90 degenerative disc disease treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:20472983|REF_RGD_ID:2325859 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:90 degenerative disc disease treatment ISO RGD:620196 D RGD:9068941 20200609 RGD associated with Renal Insufficiency PMID:19063844|REF_RGD_ID:10043178 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:16961140|REF_RGD_ID:1582545 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9000616 Metaphyseal Anadysplasia 1 ISO RGD:1343267 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia 1, autosomal dominant PMID:19615667|PMID:28492532|PMID:30439533 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1343267 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;mRNA, protein:increased expression:bone PMID:18709334|REF_RGD_ID:2306080 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1343267 D RGD:9068941 20200609 RGD PMID:20700625|REF_RGD_ID:10043118 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:20700625|REF_RGD_ID:10043118 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9001193 Metaphyseal Anadysplasia ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia PMID:25741868|PMID:28492532 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343267 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17404313 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:10623612|REF_RGD_ID:10043161 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138554 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9002331 Knee Osteoarthritis ameliorates ISO RGD:620196 D RGD:9068941 20211015 RGD PMID:31258642|REF_RGD_ID:150519887 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:24244039|REF_RGD_ID:8694124 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:11435459|REF_RGD_ID:1582329 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620196 D RGD:9068941 20200609 RGD PMID:24244039|REF_RGD_ID:8694124 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9002906 Multiple Organ Failure ISO RGD:1552243 D RGD:9068941 20200609 RGD protein:increased activity:liver, lung, spleen (mouse) PMID:15259001|REF_RGD_ID:7207133 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9004907 Metaphyseal Chondrodysplasia, Spahr Type ISO RGD:1343267 D RGD:7240710 20190315 OMIM 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9004907 Metaphyseal Chondrodysplasia, Spahr Type ISO RGD:1343267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Spahr type PMID:13915518|PMID:19615667|PMID:24648384|PMID:24781753|PMID:25741868|PMID:27576021|PMID:28492532|PMID:31413057 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:1552243 D RGD:9068941 20200609 RGD PMID:18698413|REF_RGD_ID:2306081 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:620196 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cartilage PMID:22670655|REF_RGD_ID:10043109 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9007482 Bone Metastasis ISO RGD:1343267 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell; mRNA, protein:increased expression:bone (human) PMID:18709334|REF_RGD_ID:2306080 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9007877 Fetal Hypoxia ISO RGD:620196 D RGD:9068941 20200609 RGD protein:increased expression:heart (rat) PMID:21856922|REF_RGD_ID:7207283 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1343267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17728286 8969558 Mmp13 matrix metallopeptidase 13 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1343267 D RGD:9068941 20200609 RGD protein:increased expression:tumor:positive correlation with lymph node metastases (p<0.001), negative correlation with overall survival (p=0.0008) PMID:18373849|REF_RGD_ID:2293603 8969573 Ccdc125 coiled-coil domain containing 125 gene DOID:630 genetic disease ISO RGD:1604973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969573 Ccdc125 coiled-coil domain containing 125 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8969626 Izumo3 IZUMO family member 3 gene DOID:5419 schizophrenia ISO RGD:1351856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8969637 Top6bl TOP6B like initiator of meiotic double strand breaks gene DOID:1059 intellectual disability ISO RGD:1605958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8969637 Top6bl TOP6B like initiator of meiotic double strand breaks gene DOID:630 genetic disease ISO RGD:1605958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969637 Top6bl TOP6B like initiator of meiotic double strand breaks gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605958 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8969637 Top6bl TOP6B like initiator of meiotic double strand breaks gene DOID:9007235 Hydatidiform Mole, Recurrent, 4 ISO RGD:1605958 D RGD:7240710 20190619 OMIM 8969637 Top6bl TOP6B like initiator of meiotic double strand breaks gene DOID:9007235 Hydatidiform Mole, Recurrent, 4 ISO RGD:1605958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 PMID:25741868|PMID:30388401 8969637 Top6bl TOP6B like initiator of meiotic double strand breaks gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8969656 Nrg3 neuregulin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1317640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:28492532 8969656 Nrg3 neuregulin 3 gene DOID:5419 schizophrenia ISO RGD:1317640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20713722 8969656 Nrg3 neuregulin 3 gene DOID:5419 schizophrenia ISO RGD:1317641 D RGD:9068941 20220825 MouseDO OMIM:181500 8969656 Nrg3 neuregulin 3 gene DOID:630 genetic disease ISO RGD:1317640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969679 Irf8 interferon regulatory factor 8 gene DOID:0050700 cardiomyopathy ameliorates ISO RGD:1621626 D RGD:9068941 20230629 RGD PMID:24526256|REF_RGD_ID:11251869 8969679 Irf8 interferon regulatory factor 8 gene DOID:0060761 familial chronic myelocytic leukemia-like syndrome ISO RGD:1621626 D RGD:9068941 20220825 MouseDO OMIM:600080 8969679 Irf8 interferon regulatory factor 8 gene DOID:0070004 myeloid neoplasm ISO RGD:1621626 D RGD:9068941 20200609 RGD PMID:20585039|REF_RGD_ID:11530030 8969679 Irf8 interferon regulatory factor 8 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1621626 D RGD:9068941 20200609 RGD PMID:20585039|REF_RGD_ID:11530030 8969679 Irf8 interferon regulatory factor 8 gene DOID:0111985 immunodeficiency 32B ISO RGD:1351360 D RGD:7240710 20190315 OMIM 8969679 Irf8 interferon regulatory factor 8 gene DOID:0111985 immunodeficiency 32B ISO RGD:1351360 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:16199547|PMID:17576681|PMID:21524210|PMID:24435047|PMID:25122610|PMID:25741868|PMID:26038974|PMID:27893462|PMID:28492532|PMID:30840779|PMID:32499645|PMID:35753512|PMID:6279813|PMID:9536098 8969679 Irf8 interferon regulatory factor 8 gene DOID:0111986 immunodeficiency 32A ISO RGD:1351360 D RGD:7240710 20180130 OMIM 8969679 Irf8 interferon regulatory factor 8 gene DOID:0111986 immunodeficiency 32A ISO RGD:1351360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency PMID:21524210|PMID:25741868|PMID:28492532 8969679 Irf8 interferon regulatory factor 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8969679 Irf8 interferon regulatory factor 8 gene DOID:13241 Behcet's disease ISO RGD:1351360 D RGD:9068941 20230701 RGD DNA:Hypermethylation PMID:28881647|REF_RGD_ID:329902079 8969679 Irf8 interferon regulatory factor 8 gene DOID:13241 Behcet's disease ISO RGD:1351360 D RGD:9068941 20230713 RGD protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human) PMID:28592884|REF_RGD_ID:329955373 8969679 Irf8 interferon regulatory factor 8 gene DOID:13241 Behcet's disease susceptibility ISO RGD:1351360 D RGD:9068941 20230701 RGD DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human) PMID:26794091|REF_RGD_ID:329902077 8969679 Irf8 interferon regulatory factor 8 gene DOID:2377 multiple sclerosis ISO RGD:1351360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525953 8969679 Irf8 interferon regulatory factor 8 gene DOID:3526 cerebral infarction exacerbates ISO RGD:1621626 D RGD:9068941 20230629 RGD PMID:24528256|REF_RGD_ID:329902074 8969679 Irf8 interferon regulatory factor 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1351360 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:28492532|PMID:32499645|PMID:35753512 8969679 Irf8 interferon regulatory factor 8 gene DOID:630 genetic disease ISO RGD:1351360 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8969679 Irf8 interferon regulatory factor 8 gene DOID:7148 rheumatoid arthritis ISO RGD:1351360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8969679 Irf8 interferon regulatory factor 8 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1351360 D RGD:9068941 20230629 RGD DNA:SNPs:intron 4, intron 2: (rs925994,rs10514610) (human) PMID:23661672|REF_RGD_ID:329902076 8969679 Irf8 interferon regulatory factor 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8969679 Irf8 interferon regulatory factor 8 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1621626 D RGD:9068941 20230629 RGD PMID:34400126|REF_RGD_ID:329902072 8969679 Irf8 interferon regulatory factor 8 gene DOID:9002514 Neointima ameliorates ISO RGD:1621626 D RGD:9068941 20230629 RGD associated with Carotid Artery Injuries PMID:24248596|REF_RGD_ID:329902075 8969679 Irf8 interferon regulatory factor 8 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1351360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 8969679 Irf8 interferon regulatory factor 8 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1351360 D RGD:9068941 20230727 RGD DNA:SNP: (rs4843869) (human) PMID:27021335|REF_RGD_ID:329961559 8969679 Irf8 interferon regulatory factor 8 gene DOID:9538 multiple myeloma ISO RGD:1351360 D RGD:9068941 20230629 RGD DNA:hypermethylation PMID:23114132|REF_RGD_ID:329902071 8969719 Gpr174 G protein-coupled receptor 174 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8969719 Gpr174 G protein-coupled receptor 174 gene DOID:12849 autistic disorder ISO RGD:1345699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8969719 Gpr174 G protein-coupled receptor 174 gene DOID:630 genetic disease ISO RGD:1345699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969762 Clvs1 clavesin 1 gene DOID:0050834 CHARGE syndrome ISO RGD:1602646 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 8969762 Clvs1 clavesin 1 gene DOID:630 genetic disease ISO RGD:1602646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969773 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:0050562 West syndrome ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasms PMID:32004447 8969773 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile spasm PMID:32004447 8969773 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:2843 long QT syndrome ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8969773 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:630 genetic disease ISO RGD:731635 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24768767|PMID:25741868|PMID:26615199 8969773 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9001503 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION ISO RGD:731635 D RGD:7240710 20220216 OMIM 8969773 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9001503 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation PMID:25741868|PMID:32004447 8969773 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:731635 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8969773 Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:731635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:32004447 8969834 F12 coagulation factor XII gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8969834 F12 coagulation factor XII gene DOID:0060002 C1 inhibitor deficiency ISO RGD:1345372 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: C1 ESTERASE INHIBITOR DEFICIENCY PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532 8969834 F12 coagulation factor XII gene DOID:0060903 thrombosis ISO RGD:1345372 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 8969834 F12 coagulation factor XII gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 PMID:25050900|PMID:25741868|PMID:28492532|PMID:30943683 8969834 F12 coagulation factor XII gene DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis ISO RGD:1345372 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:28492532|PMID:30943683|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098 8969834 F12 coagulation factor XII gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1345372 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8969834 F12 coagulation factor XII gene DOID:0080939 hereditary angioedema type I ISO RGD:1345372 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532 8969834 F12 coagulation factor XII gene DOID:0080940 hereditary angioedema type III ISO RGD:1345372 D RGD:7240710 20180130 OMIM 8969834 F12 coagulation factor XII gene DOID:0080940 hereditary angioedema type III ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ESTROGEN-RELATED HAE | ClinVar Annotator: match by term: ESTROGEN-SENSITIVE HAE | ClinVar Annotator: match by term: Hereditary angioedema, type III PMID:10361128|PMID:10984376|PMID:11843842|PMID:16638441|PMID:17186468|PMID:17825897|PMID:18974842|PMID:19178938|PMID:19474702|PMID:19786295|PMID:19933701|PMID:20303064|PMID:20490261|PMID:21690105|PMID:22920075|PMID:23188048|PMID:24033266|PMID:25741868|PMID:25744496|PMID:25790805|PMID:26286125|PMID:27130860|PMID:28492532|PMID:9490684 8969834 F12 coagulation factor XII gene DOID:0080941 acquired angioedema disease_progression ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:9129025|REF_RGD_ID:11565081 8969834 F12 coagulation factor XII gene DOID:10763 hypertension ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertension PMID:16638441|PMID:25741868 8969834 F12 coagulation factor XII gene DOID:14735 hereditary angioedema ISO RGD:1345372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25050900|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532|PMID:30943683 8969834 F12 coagulation factor XII gene DOID:14735 hereditary angioedema disease_progression ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:9129025|REF_RGD_ID:11565081 8969834 F12 coagulation factor XII gene DOID:14748 Sotos syndrome ISO RGD:1345372 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 8969834 F12 coagulation factor XII gene DOID:1555 urticaria ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Urticaria PMID:16638441|PMID:25741868 8969834 F12 coagulation factor XII gene DOID:1558 angioedema ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema PMID:16638441|PMID:25741868 8969834 F12 coagulation factor XII gene DOID:2231 factor XII deficiency ISO RGD:1345372 D RGD:7240710 20180130 OMIM 8969834 F12 coagulation factor XII gene DOID:2231 factor XII deficiency ISO RGD:1345372 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease PMID:10361128|PMID:10984376|PMID:11843842|PMID:16638441|PMID:17186468|PMID:17576681|PMID:17825897|PMID:18974842|PMID:19178938|PMID:19474702|PMID:19786295|PMID:19933701|PMID:20303064|PMID:20490261|PMID:21264442|PMID:21690105|PMID:21920016|PMID:22920075|PMID:23188048|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25050900|PMID:25524745|PMID:25741868|PMID:25744496|PMID:25790805|PMID:26286125|PMID:27130860|PMID:28492532|PMID:30943683|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9490684|PMID:9536098 8969834 F12 coagulation factor XII gene DOID:224 transient cerebral ischemia ISO RGD:1552499 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 8969834 F12 coagulation factor XII gene DOID:224 transient cerebral ischemia treatment ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 8969834 F12 coagulation factor XII gene DOID:2741 bilirubin metabolic disorder ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperbilirubinemia PMID:16638441|PMID:25741868 8969834 F12 coagulation factor XII gene DOID:3525 middle cerebral artery infarction ISO RGD:1552499 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 8969834 F12 coagulation factor XII gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 8969834 F12 coagulation factor XII gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345372 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-46C>T(human) PMID:16411408|REF_RGD_ID:11041803 8969834 F12 coagulation factor XII gene DOID:630 genetic disease ISO RGD:1345372 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8969834 F12 coagulation factor XII gene DOID:9000528 Coronary Disease ISO RGD:1345372 D RGD:9068941 20200609 RGD protein:decreased activity:: PMID:18021303|REF_RGD_ID:11041785 8969834 F12 coagulation factor XII gene DOID:9000543 Death ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:17388965|REF_RGD_ID:11041782 8969834 F12 coagulation factor XII gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8969834 F12 coagulation factor XII gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FACTOR XII POLYMORPHISM PMID:11843842|PMID:20303064|PMID:24033266|PMID:25741868|PMID:9490684 8969834 F12 coagulation factor XII gene DOID:9003121 Thromboembolism ISO RGD:1345372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16009717 8969834 F12 coagulation factor XII gene DOID:9003121 Thromboembolism ISO RGD:1345372 D RGD:9068941 20200609 RGD PMID:16009717|REF_RGD_ID:11041771 8969834 F12 coagulation factor XII gene DOID:9003121 Thromboembolism ISO RGD:1552499 D RGD:9068941 20200609 RGD PMID:16009717|REF_RGD_ID:11041771 8969834 F12 coagulation factor XII gene DOID:9003281 Spontaneous Abortions ISO RGD:1345372 D RGD:9068941 20200609 RGD protein:decreased activity: : PMID:24597288|REF_RGD_ID:11041799 8969834 F12 coagulation factor XII gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1345372 D RGD:9068941 20200609 RGD DNA:polymorphism::46C>T(human) PMID:15116249|REF_RGD_ID:11041808 8969834 F12 coagulation factor XII gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1345372 D RGD:9068941 20200609 RGD associated with Pregnancy Complications; DNA:polymorphism::46C>T(human) PMID:20141580|REF_RGD_ID:11041858 8969834 F12 coagulation factor XII gene DOID:9005930 Endotoxemia ISO RGD:1359175 D RGD:9068941 20200609 RGD PMID:11092686|REF_RGD_ID:7394782 8969834 F12 coagulation factor XII gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1345372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8969834 F12 coagulation factor XII gene DOID:9007096 Stroke susceptibility ISO RGD:1345372 D RGD:9068941 20200609 RGD DNA:polymorphism::46C>T(human) PMID:15232129|REF_RGD_ID:11041862 8969834 F12 coagulation factor XII gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:1359175 D RGD:9068941 20200609 RGD PMID:16046705|REF_RGD_ID:1601105 8969834 F12 coagulation factor XII gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345372 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 8969867 Mfap3l microfibril associated protein 3 like gene DOID:630 genetic disease ISO RGD:1322643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969888 Frmpd1 FERM and PDZ domain containing 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8969888 Frmpd1 FERM and PDZ domain containing 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313132 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8969888 Frmpd1 FERM and PDZ domain containing 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8969888 Frmpd1 FERM and PDZ domain containing 1 gene DOID:630 genetic disease ISO RGD:1313132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969888 Frmpd1 FERM and PDZ domain containing 1 gene DOID:687 hepatoblastoma ISO RGD:1313132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 8969888 Frmpd1 FERM and PDZ domain containing 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1305229 D RGD:9068941 20200609 RGD PMID:17404222|REF_RGD_ID:1601189 8969888 Frmpd1 FERM and PDZ domain containing 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8969888 Frmpd1 FERM and PDZ domain containing 1 gene DOID:9870 galactosemia ISO RGD:1313132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8969933 Sp4 Sp4 transcription factor gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:731794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 8969933 Sp4 Sp4 transcription factor gene DOID:12930 dilated cardiomyopathy ISO RGD:731794 D RGD:9068941 20200609 RGD PMID:15972724|REF_RGD_ID:1581308 8969933 Sp4 Sp4 transcription factor gene DOID:1682 congenital heart disease ISO RGD:731794 D RGD:9068941 20200609 RGD PMID:15907824|REF_RGD_ID:1581309 8969933 Sp4 Sp4 transcription factor gene DOID:1826 epilepsy ISO RGD:731794 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8969933 Sp4 Sp4 transcription factor gene DOID:3312 bipolar disorder ISO RGD:731794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401786 8969933 Sp4 Sp4 transcription factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8969933 Sp4 Sp4 transcription factor gene DOID:5419 schizophrenia ISO RGD:11335 D RGD:9068941 20220825 MouseDO OMIM:181500 8969933 Sp4 Sp4 transcription factor gene DOID:5419 schizophrenia ISO RGD:731794 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19401786 8969933 Sp4 Sp4 transcription factor gene DOID:630 genetic disease ISO RGD:731794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8969933 Sp4 Sp4 transcription factor gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:731794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 8969933 Sp4 Sp4 transcription factor gene DOID:9007925 Sudden Cardiac Death ISO RGD:11335 D RGD:9068941 20200609 RGD PMID:11007485|REF_RGD_ID:1580019 8969933 Sp4 Sp4 transcription factor gene DOID:9562 primary ciliary dyskinesia ISO RGD:731794 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 8969956 Notch4 notch receptor 4 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1354309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8969956 Notch4 notch receptor 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1354309 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8969956 Notch4 notch receptor 4 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:17440163|REF_RGD_ID:2299156 8969956 Notch4 notch receptor 4 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1354309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868|PMID:27231971 8969956 Notch4 notch receptor 4 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1354309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 8969956 Notch4 notch receptor 4 gene DOID:10487 Hirschsprung's disease ISO RGD:1354309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8969956 Notch4 notch receptor 4 gene DOID:1307 dementia ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:21297263|REF_RGD_ID:6480775 8969956 Notch4 notch receptor 4 gene DOID:1380 endometrial cancer ISO RGD:1354309 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:11078798|REF_RGD_ID:2299153 8969956 Notch4 notch receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:1354309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 8969956 Notch4 notch receptor 4 gene DOID:2349 arteriosclerosis ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:18802018|REF_RGD_ID:6480862 8969956 Notch4 notch receptor 4 gene DOID:2377 multiple sclerosis ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: snps: cds: rs422951 PMID:21654846|REF_RGD_ID:6480692 8969956 Notch4 notch receptor 4 gene DOID:264 hemangiopericytoma ISO RGD:1354309 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 8969956 Notch4 notch receptor 4 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1354309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 8969956 Notch4 notch receptor 4 gene DOID:418 systemic scleroderma ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: SNPs: non-coding :multiple PMID:21779181|REF_RGD_ID:6480691 8969956 Notch4 notch receptor 4 gene DOID:5241 hemangioblastoma ISO RGD:1354309 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:temporal lobe : PMID:27388534|REF_RGD_ID:155641257 8969956 Notch4 notch receptor 4 gene DOID:5419 schizophrenia ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: SNP: intron: rs520692 PMID:16894623|REF_RGD_ID:6480689 8969956 Notch4 notch receptor 4 gene DOID:5419 schizophrenia no_association ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: SNPs: :five SNPs in a Japanese population PMID:15211628|REF_RGD_ID:6480690 8969956 Notch4 notch receptor 4 gene DOID:5419 schizophrenia susceptibility ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA:snps, haplotype:5' utr:g.-1725T>G, g.-25T>C (human) PMID:14732589|REF_RGD_ID:1358753 8969956 Notch4 notch receptor 4 gene DOID:630 genetic disease ISO RGD:1354309 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8969956 Notch4 notch receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1354309 D RGD:9068941 20200609 RGD mRNA : increased expression: : cd4+ cells PMID:20132067|REF_RGD_ID:6480790 8969956 Notch4 notch receptor 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1553588 D RGD:9068941 20200609 RGD DNA, mRNA:mutation, alternative form PMID:8030284|REF_RGD_ID:2299155 8969956 Notch4 notch receptor 4 gene DOID:9004464 Skin Neoplasms ISO RGD:1354309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27923803 8969956 Notch4 notch receptor 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:15531924|REF_RGD_ID:2299154 8969956 Notch4 notch receptor 4 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:1303282 D RGD:9068941 20200609 RGD protein: increased expression: kidney PMID:20706108|REF_RGD_ID:6480788 8969956 Notch4 notch receptor 4 gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:1354309 D RGD:9068941 20200609 RGD protein: increased expression: kidney PMID:20706108|REF_RGD_ID:6480788 8969956 Notch4 notch receptor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1354309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21036696|PMID:21679465 8969956 Notch4 notch receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1354309 D RGD:9068941 20200609 RGD DNA: SNP: 5' utr: rs2395106 PMID:19143814|REF_RGD_ID:6480791 8969956 Notch4 notch receptor 4 gene DOID:986 alopecia areata ISO RGD:1354309 D RGD:9068941 20200609 RGD PMID:12589427|REF_RGD_ID:6480681 8969991 LOC102007039 chromosome unknown open reading frame, human C4orf51 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:2974931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 8969991 LOC102007039 chromosome unknown open reading frame, human C4orf51 gene DOID:630 genetic disease ISO RGD:2974931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970010 Tnfrsf6b TNF receptor superfamily member 6b gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8970010 Tnfrsf6b TNF receptor superfamily member 6b gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8970010 Tnfrsf6b TNF receptor superfamily member 6b gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1353622 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:23453664|PMID:23729807|PMID:23959892|PMID:24009516|PMID:24033266|PMID:25047097|PMID:25099625|PMID:25607374|PMID:25620558|PMID:25741868|PMID:26025130|PMID:28492532 8970010 Tnfrsf6b TNF receptor superfamily member 6b gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1353622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8970010 Tnfrsf6b TNF receptor superfamily member 6b gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1353622 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 8970010 Tnfrsf6b TNF receptor superfamily member 6b gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8970010 Tnfrsf6b TNF receptor superfamily member 6b gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 8970010 Tnfrsf6b TNF receptor superfamily member 6b gene DOID:2843 long QT syndrome ISO RGD:1353622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532 8970010 Tnfrsf6b TNF receptor superfamily member 6b gene DOID:630 genetic disease ISO RGD:1353622 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8970017 Igdcc4 immunoglobulin superfamily DCC subclass member 4 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1602692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8970017 Igdcc4 immunoglobulin superfamily DCC subclass member 4 gene DOID:2717 Bloom syndrome ISO RGD:1602692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8970017 Igdcc4 immunoglobulin superfamily DCC subclass member 4 gene DOID:630 genetic disease ISO RGD:1602692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970017 Igdcc4 immunoglobulin superfamily DCC subclass member 4 gene DOID:9256 colorectal cancer ISO RGD:1602692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8970067 Ahcyl2 adenosylhomocysteinase like 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8970067 Ahcyl2 adenosylhomocysteinase like 2 gene DOID:630 genetic disease ISO RGD:1601771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970067 Ahcyl2 adenosylhomocysteinase like 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8970101 Serpinc1 serpin family C member 1 gene DOID:0060903 thrombosis ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11132655|PMID:2133253|PMID:6889048|PMID:8967151 8970101 Serpinc1 serpin family C member 1 gene DOID:0060903 thrombosis ISO RGD:1316583 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.F229L (human) PMID:12595305|REF_RGD_ID:1580119 8970101 Serpinc1 serpin family C member 1 gene DOID:0060903 thrombosis treatment ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:17293494|REF_RGD_ID:11035267 8970101 Serpinc1 serpin family C member 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1316583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:21264449|PMID:23932013|PMID:25298121|PMID:28492532 8970101 Serpinc1 serpin family C member 1 gene DOID:10159 osteonecrosis ISO RGD:1316583 D RGD:9068941 20200625 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) PMID:16547717|PMID:16677567|REF_RGD_ID:30309948|REF_RGD_ID:30309951 8970101 Serpinc1 serpin family C member 1 gene DOID:11247 disseminated intravascular coagulation ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:6233579|PMID:8810955|PMID:9637888 8970101 Serpinc1 serpin family C member 1 gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:2679067|REF_RGD_ID:11035251 8970101 Serpinc1 serpin family C member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8810955 8970101 Serpinc1 serpin family C member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1307404 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17283885|REF_RGD_ID:11035268 8970101 Serpinc1 serpin family C member 1 gene DOID:1184 nephrotic syndrome ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:7532794|REF_RGD_ID:11035294 8970101 Serpinc1 serpin family C member 1 gene DOID:1184 nephrotic syndrome ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304663 8970101 Serpinc1 serpin family C member 1 gene DOID:1184 nephrotic syndrome disease_progression ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:8979144|REF_RGD_ID:11038563 8970101 Serpinc1 serpin family C member 1 gene DOID:1247 blood coagulation disease ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:62897 8970101 Serpinc1 serpin family C member 1 gene DOID:14115 toxic shock syndrome treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:16732381|REF_RGD_ID:1599323 8970101 Serpinc1 serpin family C member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8970101 Serpinc1 serpin family C member 1 gene DOID:2213 hemorrhagic disease ISO RGD:1316583 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:1906811|PMID:2012760|PMID:25741868|PMID:28492532 8970101 Serpinc1 serpin family C member 1 gene DOID:2394 ovarian cancer ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:22818854|REF_RGD_ID:11035257 8970101 Serpinc1 serpin family C member 1 gene DOID:3021 acute kidney failure ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with heart failure; protein:decreased activity:plasma: PMID:26108065|REF_RGD_ID:11354006 8970101 Serpinc1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1316583 D RGD:7240710 20180130 OMIM 8970101 Serpinc1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency ISO RGD:1316583 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency PMID:10077734|PMID:10361121|PMID:10997988|PMID:11192751|PMID:11307839|PMID:11686319|PMID:11713457|PMID:12399451|PMID:12591924|PMID:12755798|PMID:1325679|PMID:1360174|PMID:1421387|PMID:14347873|PMID:1469094|PMID:14754620|PMID:1483705|PMID:1483709|PMID:15164384|PMID:1536946|PMID:1551681|PMID:1555650|PMID:16199547|PMID:16268490|PMID:16620552|PMID:16705712|PMID:17492649|PMID:17576681|PMID:17849067|PMID:1796410|PMID:18480576|PMID:1868237|PMID:1873224|PMID:18954896|PMID:1906811|PMID:1932746|PMID:1977621|PMID:1998601|PMID:20088933|PMID:2012760|PMID:2093312|PMID:21264449|PMID:21325262|PMID:22234719|PMID:2229057|PMID:22398878|PMID:22481271|PMID:22498748|PMID:22627591|PMID:23358206|PMID:2336381|PMID:2349545|PMID:2363123|PMID:2365065|PMID:2372510|PMID:23910795|PMID:23932013|PMID:24072242|PMID:24082793|PMID:24121110|PMID:24158114|PMID:24162787|PMID:24196373|PMID:24583439|PMID:24684277|PMID:24814625|PMID:24956267|PMID:25298121|PMID:25312341|PMID:25466846|PMID:25522812|PMID:25637381|PMID:25741868|PMID:25837307|PMID:2602168|PMID:2615648|PMID:26748602|PMID:27003919|PMID:27098529|PMID:27283015|PMID:27322195|PMID:27749296|PMID:2776881|PMID:27838551|PMID:2794060|PMID:28166811|PMID:28174134|PMID:28229161|PMID:28300866|PMID:28317092|PMID:28492532|PMID:28607330|PMID:28743742|PMID:29071478|PMID:29153735|PMID:2917133|PMID:29215785|PMID:29296762|PMID:29662868|PMID:29708875|PMID:2983542|PMID:29902631|PMID:30046692|PMID:3055413|PMID:30721820|PMID:3080419|PMID:30975910|PMID:31030036|PMID:31064749|PMID:31157679|PMID:3141397|PMID:3162733|PMID:3169232|PMID:3179438|PMID:3179448|PMID:3187951|PMID:31885188|PMID:3191114|PMID:3238650|PMID:33367661|PMID:33401890|PMID:3350974|PMID:3360140|PMID:33614741|PMID:33725558|PMID:33917853|PMID:3413737|PMID:34355501|PMID:3472589|PMID:34800304|PMID:3512602|PMID:35486842|PMID:35626216|PMID:3563966|PMID:3563974|PMID:3567355|PMID:3580302|PMID:3605071|PMID:3663508|PMID:3715788|PMID:3775688|PMID:3805013|PMID:3828226|PMID:3960724|PMID:4049307|PMID:4082101|PMID:6204398|PMID:6572945|PMID:6582486|PMID:6636045|PMID:6871107|PMID:6871478|PMID:7082587|PMID:7455996|PMID:7734360|PMID:7863481|PMID:7947234|PMID:7949130|PMID:7981186|PMID:7989582|PMID:8217824|PMID:8274732|PMID:8401542|PMID:8443391|PMID:8476848|PMID:8486379|PMID:9031473|PMID:9157604|PMID:9536098|PMID:9845533 8970101 Serpinc1 serpin family C member 1 gene DOID:3755 antithrombin III deficiency susceptibility ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:3162535|REF_RGD_ID:1599321 8970101 Serpinc1 serpin family C member 1 gene DOID:4193 intracranial thrombosis ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6636041 8970101 Serpinc1 serpin family C member 1 gene DOID:630 genetic disease ISO RGD:1316583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8970101 Serpinc1 serpin family C member 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8970101 Serpinc1 serpin family C member 1 gene DOID:8805 intermediate coronary syndrome treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:8122184|REF_RGD_ID:11035255 8970101 Serpinc1 serpin family C member 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:15792522|REF_RGD_ID:1599333 8970101 Serpinc1 serpin family C member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316584 D RGD:9068941 20200609 RGD associated with Melanoma PMID:16440418|REF_RGD_ID:1599327 8970101 Serpinc1 serpin family C member 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Adenocarcinoma, Colon PMID:16440418|REF_RGD_ID:1599327 8970101 Serpinc1 serpin family C member 1 gene DOID:9000998 Brain Injuries ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21534203 8970101 Serpinc1 serpin family C member 1 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Inflammatory Bowel Diseases PMID:16124052|REF_RGD_ID:1599330 8970101 Serpinc1 serpin family C member 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7923645 8970101 Serpinc1 serpin family C member 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:24726586|REF_RGD_ID:10450597 8970101 Serpinc1 serpin family C member 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:8589354|REF_RGD_ID:11038771 8970101 Serpinc1 serpin family C member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:1307404 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:22781611|REF_RGD_ID:11035273 8970101 Serpinc1 serpin family C member 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Peritonitis PMID:18458955|REF_RGD_ID:11035266 8970101 Serpinc1 serpin family C member 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6636041 8970101 Serpinc1 serpin family C member 1 gene DOID:9002906 Multiple Organ Failure disease_progression ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Disseminated Intravascular Coagulation PMID:9630308|REF_RGD_ID:11035250 8970101 Serpinc1 serpin family C member 1 gene DOID:9003121 Thromboembolism ISO RGD:1316583 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thromboembolism PMID:1483705|PMID:1977621|PMID:25741868|PMID:28492532|PMID:31064749|PMID:3472589 8970101 Serpinc1 serpin family C member 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:453287 8970101 Serpinc1 serpin family C member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:1316583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:1483705|PMID:1555650|PMID:1977621|PMID:22498748|PMID:2336381|PMID:24072242|PMID:24158114|PMID:25741868|PMID:26748602|PMID:28492532|PMID:29215785|PMID:31064749|PMID:3472589 8970101 Serpinc1 serpin family C member 1 gene DOID:9004590 Acute Liver Failure ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4089794 8970101 Serpinc1 serpin family C member 1 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:22563168|REF_RGD_ID:11035263 8970101 Serpinc1 serpin family C member 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:17940748|REF_RGD_ID:11035256 8970101 Serpinc1 serpin family C member 1 gene DOID:9004649 Heat Stroke treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Inflammation PMID:20047080|REF_RGD_ID:10402179 8970101 Serpinc1 serpin family C member 1 gene DOID:9005036 Bacteremia treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:2679067|REF_RGD_ID:11035251 8970101 Serpinc1 serpin family C member 1 gene DOID:9005372 Inflammation ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:17850787|REF_RGD_ID:11035259 8970101 Serpinc1 serpin family C member 1 gene DOID:9005372 Inflammation treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:16095456|REF_RGD_ID:1599331 8970101 Serpinc1 serpin family C member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:22309505|PMID:24671746|REF_RGD_ID:11035271|REF_RGD_ID:11035293 8970101 Serpinc1 serpin family C member 1 gene DOID:9005930 Endotoxemia ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:15995859|PMID:20519137|PMID:21396682|REF_RGD_ID:1599332|REF_RGD_ID:5147765|REF_RGD_ID:5147779 8970101 Serpinc1 serpin family C member 1 gene DOID:9005930 Endotoxemia treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:16457847|REF_RGD_ID:1599326 8970101 Serpinc1 serpin family C member 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1307404 D RGD:9068941 20201211 RGD PMID:26108065|REF_RGD_ID:11354006 8970101 Serpinc1 serpin family C member 1 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:26108065|REF_RGD_ID:11354006 8970101 Serpinc1 serpin family C member 1 gene DOID:9007096 Stroke ISO RGD:1316583 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 8970101 Serpinc1 serpin family C member 1 gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1316583 D RGD:9068941 20200609 RGD PMID:19546838|REF_RGD_ID:11035262 8970101 Serpinc1 serpin family C member 1 gene DOID:9007621 Craniocerebral Trauma ISO RGD:1316583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8810955 8970101 Serpinc1 serpin family C member 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8970101 Serpinc1 serpin family C member 1 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:1307404 D RGD:9068941 20200609 RGD PMID:21046505|REF_RGD_ID:11035258 8970101 Serpinc1 serpin family C member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8970101 Serpinc1 serpin family C member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1316583 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 8970117 Kiaa0408 KIAA0408 ortholog gene DOID:630 genetic disease ISO RGD:1345855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970130 Pkp4 plakophilin 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1317269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8970130 Pkp4 plakophilin 4 gene DOID:630 genetic disease ISO RGD:1317269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8970189 Ephx3 epoxide hydrolase 3 gene DOID:1909 melanoma ISO RGD:1316262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8970189 Ephx3 epoxide hydrolase 3 gene DOID:630 genetic disease ISO RGD:1316262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970189 Ephx3 epoxide hydrolase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1316262 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8970211 Creb5 cAMP responsive element binding protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1606026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8970211 Creb5 cAMP responsive element binding protein 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8970211 Creb5 cAMP responsive element binding protein 5 gene DOID:630 genetic disease ISO RGD:1606026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970211 Creb5 cAMP responsive element binding protein 5 gene DOID:9006608 Lung Carcinoid Tumors severity ISO RGD:1606026 D RGD:9068941 20220303 RGD mRNA:decreased expression:lung (human) PMID:25105010|REF_RGD_ID:151660336 8970211 Creb5 cAMP responsive element binding protein 5 gene DOID:9007479 Habitual Abortions ISO RGD:1606026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30100398 8970231 Imp4 IMP U3 small nucleolar ribonucleoprotein 4 gene DOID:630 genetic disease ISO RGD:1605599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970269 Sycn syncollin gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1604473 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8970269 Sycn syncollin gene DOID:630 genetic disease ISO RGD:1604473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970269 Sycn syncollin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604473 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8970273 Prmt6 protein arginine methyltransferase 6 gene DOID:12849 autistic disorder ISO RGD:1312299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8970273 Prmt6 protein arginine methyltransferase 6 gene DOID:630 genetic disease ISO RGD:1312299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970273 Prmt6 protein arginine methyltransferase 6 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1312299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27506785 8970278 Tril TLR4 interactor with leucine rich repeats gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:4143834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8970278 Tril TLR4 interactor with leucine rich repeats gene DOID:630 genetic disease ISO RGD:4143834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970289 Thtpa thiamine triphosphatase gene DOID:0060439 lysinuric protein intolerance ISO RGD:1344933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8970289 Thtpa thiamine triphosphatase gene DOID:0081075 Marsili syndrome ISO RGD:1344933 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant PMID:25741868|PMID:29253101 8970289 Thtpa thiamine triphosphatase gene DOID:630 genetic disease ISO RGD:1344933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970289 Thtpa thiamine triphosphatase gene DOID:9000265 Specific Granule Deficiency ISO RGD:1344933 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8970289 Thtpa thiamine triphosphatase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344933 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8970309 Dsg1 desmoglein 1 gene DOID:0014667 disease of metabolism ISO RGD:1320531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23974871 8970309 Dsg1 desmoglein 1 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1320531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 8970309 Dsg1 desmoglein 1 gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1320531 D RGD:7240710 20180130 OMIM 8970309 Dsg1 desmoglein 1 gene DOID:0081108 keratosis palmoplantaris striata 1 ISO RGD:1320531 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DSG1-related condition | ClinVar Annotator: match by term: Keratoderma, palmoplantar striate form 1 | ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse PMID:10332028|PMID:11122035|PMID:11313759|PMID:15897387|PMID:16484817|PMID:19018793|PMID:19157795|PMID:19558595|PMID:23974871|PMID:24033266|PMID:25741868|PMID:27534273|PMID:27632246|PMID:28492532|PMID:29604126|PMID:30943110|PMID:31130284|PMID:31443639|PMID:34352264|PMID:7544663 8970309 Dsg1 desmoglein 1 gene DOID:0111505 palmoplantar keratoderma-deafness syndrome ISO RGD:1320531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma PMID:25741868 8970309 Dsg1 desmoglein 1 gene DOID:1059 intellectual disability ISO RGD:1320531 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8970309 Dsg1 desmoglein 1 gene DOID:1205 allergic disease ISO RGD:1320531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23974871 8970309 Dsg1 desmoglein 1 gene DOID:2723 dermatitis ISO RGD:1320531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23974871 8970309 Dsg1 desmoglein 1 gene DOID:630 genetic disease ISO RGD:1320531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8970309 Dsg1 desmoglein 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:1320531 D RGD:9068941 20200609 RGD mRNA:decreased expression:gingival tissues PMID:21382035|REF_RGD_ID:6480655 8970309 Dsg1 desmoglein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1309925 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19500802|REF_RGD_ID:2316254 8970309 Dsg1 desmoglein 1 gene DOID:9007380 Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE ISO RGD:1320531 D RGD:7240710 20180130 OMIM 8970309 Dsg1 desmoglein 1 gene DOID:9007380 Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE ISO RGD:1320531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | ClinVar Annotator: match by term: SAM SYNDROME PMID:23974871|PMID:24033266|PMID:25741868|PMID:28492532 8970328 Rnf144b ring finger protein 144B gene DOID:630 genetic disease ISO RGD:1318869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970328 Rnf144b ring finger protein 144B gene DOID:9007715 Endometrial Neoplasms ISO RGD:1318869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29724995 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:11873320|PMID:15542397|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:22871920|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25741868|PMID:26094004|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26943801|PMID:27302843|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:31831025|PMID:31980526|PMID:8670792|PMID:9536098 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:11873320|PMID:15542397|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:22871920|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25741868|PMID:26094004|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31980526|PMID:33003980|PMID:33776059|PMID:8670792|PMID:9536098 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31884617|PMID:31980526|PMID:32399598|PMID:33003980|PMID:33776059|PMID:8670792|PMID:8940266|PMID:9536098 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17041890|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31555682|PMID:31831025|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32214787|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:3515938|PMID:8670792|PMID:8940266|PMID:9536098 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0050444 infantile Refsum disease ISO RGD:734166 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NALD/IRD) | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17041890|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27007981|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31374812|PMID:31555682|PMID:31831025|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32214787|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:34387732|PMID:34448047|PMID:34662339|PMID:3515938|PMID:36649687|PMID:36785559|PMID:37144748|PMID:8670792|PMID:8940266|PMID:9536098 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:734166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10408779|PMID:8940266 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:734166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:10408779|PMID:19877282|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080479 peroxisome biogenesis disorder 4A ISO RGD:734166 D RGD:7240710 20180130 OMIM 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080479 peroxisome biogenesis disorder 4A ISO RGD:734166 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger) PMID:10408779|PMID:11004248|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:20301621|PMID:21031596|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26593283|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27007981|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31374812|PMID:31831025|PMID:31884617|PMID:31980526|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:34448047|PMID:34662339|PMID:3515938|PMID:36649687|PMID:36785559|PMID:8670792|PMID:8940266|PMID:9536098 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080623 Heimler syndrome 1 ISO RGD:734166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080624 Heimler syndrome 2 ISO RGD:734166 D RGD:7240710 20180130 OMIM 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0080624 Heimler syndrome 2 ISO RGD:734166 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Heimler syndrome 2 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 4C PMID:10408779|PMID:11004248|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17041890|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:21520333|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26593283|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27007981|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31884617|PMID:31964843|PMID:32214787|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:34387732|PMID:34448047|PMID:34662339|PMID:3515938|PMID:36785559|PMID:8670792|PMID:9536098 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:734166 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:15542397|PMID:19105186|PMID:19877282|PMID:24016303|PMID:25741868|PMID:26387595|PMID:28492532|PMID:29220678 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:10003 sensorineural hearing loss ISO RGD:734166 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:19877282|PMID:25079577|PMID:25741868|PMID:28492532|PMID:32399598 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:10579 leukodystrophy ISO RGD:734166 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:1059 intellectual disability ISO RGD:734166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:630 genetic disease ISO RGD:734166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15542397|PMID:19105186|PMID:19877282|PMID:21031596|PMID:24016303|PMID:24459294|PMID:25741868|PMID:26387595|PMID:28492532|PMID:29220678|PMID:34055681|PMID:8670792 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:8501 fundus dystrophy ISO RGD:734166 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16530715|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26943801|PMID:27302843|PMID:27848944|PMID:28492532|PMID:29676688|PMID:31216405|PMID:31831025|PMID:33003980|PMID:33776059|PMID:36785559 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:9002864 Peroxisome Biogenesis Disorder 4B ISO RGD:734166 D RGD:7240710 20180130 OMIM 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:9002864 Peroxisome Biogenesis Disorder 4B ISO RGD:734166 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4B PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19877282|PMID:21031596|PMID:21937992|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27007981|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:29220678|PMID:29676688|PMID:31216405|PMID:31831025|PMID:31884617|PMID:31980526|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:34448047|PMID:34662339|PMID:3515938|PMID:36785559|PMID:8670792|PMID:8940266|PMID:9536098 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:734166 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:10408779|PMID:19877282|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:905 Zellweger syndrome ISO RGD:734166 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10408779|PMID:11355018|PMID:11873320|PMID:15542397|PMID:15858711|PMID:16199547|PMID:16530715|PMID:17041890|PMID:17190851|PMID:17576681|PMID:19105186|PMID:19142205|PMID:19763152|PMID:19877282|PMID:20301621|PMID:20307669|PMID:21031596|PMID:21520333|PMID:22406018|PMID:22871920|PMID:22894767|PMID:23757202|PMID:24016303|PMID:24033266|PMID:24459294|PMID:25079577|PMID:25079599|PMID:25525159|PMID:25741868|PMID:26094004|PMID:26275793|PMID:26287655|PMID:26387595|PMID:26467025|PMID:26669662|PMID:26700162|PMID:26943801|PMID:27007981|PMID:27302843|PMID:27604308|PMID:27779215|PMID:27848944|PMID:28492532|PMID:28857144|PMID:29047053|PMID:29220678|PMID:29419819|PMID:29676688|PMID:31216405|PMID:31374812|PMID:31555682|PMID:31831025|PMID:31884617|PMID:31964843|PMID:31980526|PMID:32214787|PMID:32399598|PMID:33003980|PMID:33776059|PMID:34055681|PMID:34387732|PMID:34448047|PMID:34662339|PMID:3515938|PMID:36649687|PMID:36785559|PMID:37144748|PMID:8670792|PMID:8940266|PMID:9536098 8970340 Pex6 peroxisomal biogenesis factor 6 gene DOID:906 peroxisomal disease ISO RGD:621637 D RGD:9068941 20200609 RGD PMID:7493019|REF_RGD_ID:729462 8970363 Nolc1 nucleolar and coiled-body phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:1354376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970391 Ddi1 DNA damage inducible 1 homolog 1 gene DOID:1059 intellectual disability ISO RGD:1604424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8970391 Ddi1 DNA damage inducible 1 homolog 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1604424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8970391 Ddi1 DNA damage inducible 1 homolog 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604424 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8970391 Ddi1 DNA damage inducible 1 homolog 1 gene DOID:630 genetic disease ISO RGD:1604424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970404 Syt7 synaptotagmin 7 gene DOID:0050773 paraganglioma ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 8970404 Syt7 synaptotagmin 7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8970404 Syt7 synaptotagmin 7 gene DOID:1059 intellectual disability ISO RGD:736086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8970404 Syt7 synaptotagmin 7 gene DOID:2661 myoepithelioma ISO RGD:736086 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8970404 Syt7 synaptotagmin 7 gene DOID:630 genetic disease ISO RGD:736086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970404 Syt7 synaptotagmin 7 gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:736086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 8970426 Mesd mesoderm development LRP chaperone gene DOID:0050726 tyrosinemia type I ISO RGD:1321194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 8970426 Mesd mesoderm development LRP chaperone gene DOID:0111849 osteogenesis imperfecta type 20 ISO RGD:1321194 D RGD:7240710 20191030 OMIM 8970426 Mesd mesoderm development LRP chaperone gene DOID:0111849 osteogenesis imperfecta type 20 ISO RGD:1321194 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 20 PMID:28492532|PMID:31564437|PMID:33596325 8970426 Mesd mesoderm development LRP chaperone gene DOID:2717 Bloom syndrome ISO RGD:1321194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8970426 Mesd mesoderm development LRP chaperone gene DOID:630 genetic disease ISO RGD:1321194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970426 Mesd mesoderm development LRP chaperone gene DOID:9256 colorectal cancer ISO RGD:1321194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8970440 Vcpkmt valosin containing protein lysine methyltransferase gene DOID:0050574 L-2-hydroxyglutaric aciduria ISO RGD:1314724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:15385440 8970440 Vcpkmt valosin containing protein lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1314724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970440 Vcpkmt valosin containing protein lysine methyltransferase gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314724 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8970498 Cpne5 copine 5 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1317548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8970498 Cpne5 copine 5 gene DOID:630 genetic disease ISO RGD:1317548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:0050451 Brugada syndrome ISO RGD:1350710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20031595|PMID:21051419|PMID:22284586|PMID:23257389|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24144883|PMID:25650408|PMID:25741868|PMID:25757662|PMID:28492532|PMID:29247119|PMID:30821013|PMID:31019283|PMID:31043699 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:0050700 cardiomyopathy ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:28492532|PMID:30662450 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:0110224 Brugada syndrome 7 ISO RGD:1350710 D RGD:7240710 20180130 OMIM 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:0110224 Brugada syndrome 7 ISO RGD:1350710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 16 | ClinVar Annotator: match by term: Brugada syndrome 7 PMID:16199547|PMID:17576681|PMID:20031595|PMID:20042427|PMID:20226894|PMID:20558140|PMID:21051419|PMID:22284586|PMID:23257389|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24144883|PMID:24529773|PMID:25650408|PMID:25741868|PMID:25757662|PMID:26179811|PMID:27435932|PMID:27711072|PMID:28166811|PMID:28492532|PMID:29247119|PMID:30662450|PMID:30821013|PMID:30847666|PMID:31019283|PMID:31043699|PMID:9536098 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:2843 long QT syndrome ISO RGD:1350710 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:4724 brain edema ISO RGD:1350710 D RGD:9068941 20230727 RGD mRNA:increased expression:neocortex,Pyramidal cells (human) PMID:27487831|REF_RGD_ID:329969876 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:5419 schizophrenia ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:630 genetic disease ISO RGD:1350710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:27435932|PMID:28492532 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1350710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20031595|PMID:21051419|PMID:22284586|PMID:23257389|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24144883|PMID:25650408|PMID:25741868|PMID:25757662|PMID:28492532|PMID:29247119|PMID:30821013|PMID:31019283|PMID:31043699 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:9006030 Infant Death ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:28492532|PMID:30662450 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:9007661 Dwarfism ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8970537 Scn3b sodium voltage-gated channel beta subunit 3 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1350710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1342501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:0060545 Hermansky-Pudlak syndrome 7 ISO RGD:1342501 D RGD:7240710 20180130 OMIM 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:0060545 Hermansky-Pudlak syndrome 7 ISO RGD:1342501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 PMID:12923531|PMID:23364359|PMID:25741868|PMID:28259707|PMID:28492532|PMID:30990103 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:150 disease of mental health ISO RGD:1342501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25298178 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1619063 D RGD:9068941 20220825 MouseDO OMIM:185050 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1342501 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex PMID:22337344|REF_RGD_ID:11251761 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1590759 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus PMID:22337344|REF_RGD_ID:11251761 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1342501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:24033266|PMID:28492532 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1342501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1342501 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:intron, promoter:multiple PMID:15345706|REF_RGD_ID:11251758 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1342501 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:12474144|REF_RGD_ID:1358610 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1619063 D RGD:9068941 20220825 MouseDO OMIM:181500 8970554 Dtnbp1 dystrobrevin binding protein 1 gene DOID:630 genetic disease ISO RGD:1342501 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8970579 Lancl1 LanC like glutathione S-transferase 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:69464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8970579 Lancl1 LanC like glutathione S-transferase 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:69464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8970579 Lancl1 LanC like glutathione S-transferase 1 gene DOID:630 genetic disease ISO RGD:69464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970579 Lancl1 LanC like glutathione S-transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8970599 Fat3 FAT atypical cadherin 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1351260 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8970599 Fat3 FAT atypical cadherin 3 gene DOID:1059 intellectual disability ISO RGD:1351260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8970599 Fat3 FAT atypical cadherin 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1351260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8970599 Fat3 FAT atypical cadherin 3 gene DOID:630 genetic disease ISO RGD:1351260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970599 Fat3 FAT atypical cadherin 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1351260 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay 8970645 Dok6 docking protein 6 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1346452 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8970645 Dok6 docking protein 6 gene DOID:1059 intellectual disability ISO RGD:1346452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8970645 Dok6 docking protein 6 gene DOID:630 genetic disease ISO RGD:1346452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970645 Dok6 docking protein 6 gene DOID:6420 pulmonary valve stenosis ISO RGD:1346452 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8970645 Dok6 docking protein 6 gene DOID:8445 intestinal volvulus ISO RGD:1346452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8970645 Dok6 docking protein 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8970645 Dok6 docking protein 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1346452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8970657 Atg5 autophagy related 5 gene DOID:0080259 autosomal recessive spinocerebellar ataxia 25 ISO RGD:1353398 D RGD:7240710 20190315 OMIM 8970657 Atg5 autophagy related 5 gene DOID:0080259 autosomal recessive spinocerebellar ataxia 25 ISO RGD:1353398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 PMID:15981765|PMID:26812546 8970657 Atg5 autophagy related 5 gene DOID:2355 anemia ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 8970657 Atg5 autophagy related 5 gene DOID:326 ischemia ISO RGD:1359580 D RGD:9068941 20200609 RGD PMID:25435100|REF_RGD_ID:11561945 8970657 Atg5 autophagy related 5 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1556965 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:23851366|REF_RGD_ID:11561951 8970657 Atg5 autophagy related 5 gene DOID:5082 liver cirrhosis ISO RGD:1353398 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33549628 8970657 Atg5 autophagy related 5 gene DOID:614 lymphopenia ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 8970657 Atg5 autophagy related 5 gene DOID:630 genetic disease ISO RGD:1353398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970657 Atg5 autophagy related 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 8970657 Atg5 autophagy related 5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1359580 D RGD:9068941 20200609 RGD protein:increased expression:axon PMID:25040536|REF_RGD_ID:11553820 8970657 Atg5 autophagy related 5 gene DOID:9001981 Weight Loss ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 8970657 Atg5 autophagy related 5 gene DOID:9002321 Teratozoospermia ISO RGD:1353398 D RGD:9068941 20231102 CTD CTD Direct Evidence: marker/mechanism PMID:37506864 8970657 Atg5 autophagy related 5 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28408137 8970657 Atg5 autophagy related 5 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1359580 D RGD:9068941 20200609 RGD PMID:24998254|REF_RGD_ID:11561938 8970657 Atg5 autophagy related 5 gene DOID:9005369 Hepatomegaly ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22491424 8970657 Atg5 autophagy related 5 gene DOID:9005749 Necrosis ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20578144 8970657 Atg5 autophagy related 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22491424 8970657 Atg5 autophagy related 5 gene DOID:9008617 Lethargy ISO RGD:1353398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26568842 8970657 Atg5 autophagy related 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1556965 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8970669 Krt7 keratin 7 gene DOID:12236 primary biliary cholangitis ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21681009 8970669 Krt7 keratin 7 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1322015 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 8970669 Krt7 keratin 7 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1322014 D RGD:9068941 20200609 RGD PMID:19260470|REF_RGD_ID:2317307 8970669 Krt7 keratin 7 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1322014 D RGD:9068941 20220331 RGD PMID:29788741|REF_RGD_ID:151665759 8970669 Krt7 keratin 7 gene DOID:4450 renal cell carcinoma ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329|PMID:16927643 8970669 Krt7 keratin 7 gene DOID:4947 cholangiocarcinoma ISO RGD:1322014 D RGD:9068941 20200609 RGD PMID:18393293|REF_RGD_ID:2317308 8970669 Krt7 keratin 7 gene DOID:5389 oxyphilic adenoma ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16927643 8970669 Krt7 keratin 7 gene DOID:630 genetic disease ISO RGD:1322014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970669 Krt7 keratin 7 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921857 8970669 Krt7 keratin 7 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1310865 D RGD:9068941 20200609 RGD PMID:8570173|REF_RGD_ID:2317439 8970669 Krt7 keratin 7 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 8970669 Krt7 keratin 7 gene DOID:9008510 Chronic Hepatitis ISO RGD:1322014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 8970682 Ccdc121 coiled-coil domain containing 121 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8970682 Ccdc121 coiled-coil domain containing 121 gene DOID:630 genetic disease ISO RGD:1603009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970688 Greb1 growth regulating estrogen receptor binding 1 gene DOID:289 endometriosis ISO RGD:1605705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104006 8970688 Greb1 growth regulating estrogen receptor binding 1 gene DOID:5419 schizophrenia ISO RGD:1605705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8970688 Greb1 growth regulating estrogen receptor binding 1 gene DOID:630 genetic disease ISO RGD:1605705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970688 Greb1 growth regulating estrogen receptor binding 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16496412 8970757 Cd3d CD3d molecule gene DOID:0060017 CD3epsilon deficiency ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8970757 Cd3d CD3d molecule gene DOID:0060837 isolated microphthalmia 5 ISO RGD:736987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8970757 Cd3d CD3d molecule gene DOID:0080690 RASopathy ISO RGD:736987 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8970757 Cd3d CD3d molecule gene DOID:0081330 glycogen storage disease Ib ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8970757 Cd3d CD3d molecule gene DOID:0110651 long QT syndrome 10 ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8970757 Cd3d CD3d molecule gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8970757 Cd3d CD3d molecule gene DOID:0111971 immunodeficiency 18 ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8970757 Cd3d CD3d molecule gene DOID:0111972 immunodeficiency 19 ISO RGD:736987 D RGD:7240710 20180130 OMIM 8970757 Cd3d CD3d molecule gene DOID:0111972 immunodeficiency 19 ISO RGD:736987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:10935641|PMID:14602880|PMID:15546002|PMID:16199547|PMID:1635567|PMID:17277165|PMID:17576681|PMID:21883749|PMID:21926461|PMID:22039266|PMID:23336327|PMID:24216686|PMID:24290291|PMID:24910257|PMID:25344390|PMID:25373860|PMID:25741868|PMID:26822028|PMID:27807805|PMID:28492532|PMID:31031743|PMID:8490660|PMID:9536098 8970757 Cd3d CD3d molecule gene DOID:0111973 immunodeficiency 17 ISO RGD:736987 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8970757 Cd3d CD3d molecule gene DOID:1059 intellectual disability ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8970757 Cd3d CD3d molecule gene DOID:12236 primary biliary cholangitis ISO RGD:736987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 8970757 Cd3d CD3d molecule gene DOID:3042 allergic contact dermatitis ISO RGD:736987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 8970757 Cd3d CD3d molecule gene DOID:3602 toxic encephalopathy ISO RGD:736987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8970757 Cd3d CD3d molecule gene DOID:409 liver disease ISO RGD:736987 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8970757 Cd3d CD3d molecule gene DOID:627 severe combined immunodeficiency ISO RGD:736987 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8970757 Cd3d CD3d molecule gene DOID:630 genetic disease ISO RGD:736987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8970757 Cd3d CD3d molecule gene DOID:9000795 Immunodeficiency 104 ISO RGD:736987 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:25741868|PMID:28492532 8970757 Cd3d CD3d molecule gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8970757 Cd3d CD3d molecule gene DOID:9007661 Dwarfism ISO RGD:736987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8970769 Serinc4 serine incorporator 4 gene DOID:2717 Bloom syndrome ISO RGD:1606056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8970769 Serinc4 serine incorporator 4 gene DOID:9256 colorectal cancer ISO RGD:1606056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:1059 intellectual disability ISO RGD:737371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:2048 autoimmune hepatitis ISO RGD:737371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115720 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:31591370|PMID:32860008|PMID:3383242|PMID:34162028|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29754767|PMID:30675358|PMID:31591370|PMID:32860008|PMID:3383242|PMID:34162028|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:3383242|PMID:34162028|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1928090|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:6348085|PMID:7717389|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:737371 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Fructose-biphosphatase deficiency PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:14760272|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29510902|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31589614|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:36028839|PMID:6348085|PMID:7717389|PMID:8069328|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:630 genetic disease ISO RGD:737371 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:15880727|PMID:18188031|PMID:18541450|PMID:1967768|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:22995991|PMID:23430936|PMID:25741868|PMID:26937407|PMID:28492532|PMID:31589614|PMID:32860008|PMID:33028743|PMID:34524712|PMID:36028839|PMID:8071980|PMID:8299883|PMID:8299892|PMID:8880583 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:8283 peritonitis ISO RGD:2090 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:8403244|REF_RGD_ID:2313429 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:9000217 Stomach Neoplasms ISO RGD:737371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:9002669 Hypoxia ISO RGD:737371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:737371 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: LCHAD Deficiency PMID:25741868 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2090 D RGD:9068941 20200609 RGD mRNA:reduced expression:liver, small intestine (rat) PMID:2984252|REF_RGD_ID:2313437 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16115720 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:916 liver benign neoplasm ISO RGD:2090 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:8264573|REF_RGD_ID:2313432 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:9351 diabetes mellitus ISO RGD:10140 D RGD:9068941 20200609 RGD mRNA:reduced expression:pancreatic islet (mouse) PMID:11904435|REF_RGD_ID:2313440 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:9352 type 2 diabetes mellitus ISO RGD:2090 D RGD:9068941 20200609 RGD PMID:19106228|REF_RGD_ID:2313414 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:9352 type 2 diabetes mellitus ISO RGD:737371 D RGD:9068941 20200609 RGD DNA:SNP:intron: (human) PMID:12646233|REF_RGD_ID:2313434 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:737371 D RGD:7240710 20180130 OMIM 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:737371 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ALDOB-related condition | ClinVar Annotator: match by term: Fructose intolerance | ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency | ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar Annotator: match by term: Hereditary fructose intolerance PMID:10024431|PMID:10229688|PMID:10352930|PMID:10625657|PMID:10970798|PMID:11757579|PMID:12205126|PMID:12417303|PMID:12464284|PMID:14760272|PMID:15532022|PMID:15733923|PMID:15880727|PMID:16199547|PMID:16406649|PMID:16630753|PMID:17576681|PMID:1772121|PMID:18188031|PMID:18541450|PMID:1856829|PMID:1967768|PMID:19768653|PMID:20033295|PMID:20848650|PMID:20882353|PMID:21228398|PMID:2203259|PMID:22375183|PMID:22494545|PMID:22995991|PMID:23114028|PMID:2336380|PMID:23430936|PMID:2349937|PMID:24033266|PMID:25525159|PMID:25595217|PMID:25741868|PMID:25910213|PMID:2623136|PMID:26283345|PMID:26633542|PMID:26677512|PMID:26937407|PMID:27797444|PMID:28492532|PMID:29095814|PMID:29510902|PMID:29754767|PMID:30675358|PMID:30833214|PMID:31589614|PMID:31591370|PMID:32860008|PMID:33028743|PMID:3383242|PMID:34162028|PMID:3430936|PMID:34524712|PMID:36028839|PMID:6348085|PMID:7717389|PMID:8069328|PMID:8071980|PMID:8096362|PMID:8162030|PMID:8299883|PMID:8299892|PMID:8438046|PMID:8535439|PMID:8541450|PMID:8880583|PMID:9536098|PMID:9610797 8970770 Aldob aldolase, fructose-bisphosphate B gene DOID:9869 hereditary fructose intolerance syndrome susceptibility ISO RGD:737371 D RGD:9068941 20200609 RGD PMID:15532022|REF_RGD_ID:1599063 8970793 Ank1 ankyrin 1 gene DOID:0080006 bone development disease ISO RGD:1320055 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728347 8970793 Ank1 ankyrin 1 gene DOID:0090039 torsion dystonia 6 ISO RGD:1320055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 8970793 Ank1 ankyrin 1 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1320055 D RGD:7240710 20180130 OMIM 8970793 Ank1 ankyrin 1 gene DOID:0110916 hereditary spherocytosis type 1 ISO RGD:1320055 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive PMID:11102985|PMID:11167760|PMID:11372755|PMID:11527968|PMID:12899723|PMID:1486040|PMID:15071790|PMID:16037067|PMID:16199547|PMID:17327413|PMID:17576681|PMID:21099109|PMID:22573887|PMID:24033266|PMID:25741868|PMID:26830532|PMID:27292444|PMID:27427187|PMID:28102861|PMID:28492532|PMID:29449435|PMID:29597199|PMID:31016877|PMID:31122244|PMID:31669644|PMID:31980736|PMID:32436265|PMID:32518793|PMID:32641076|PMID:32702754|PMID:33014018|PMID:33074480|PMID:33116287|PMID:33620149|PMID:34953813|PMID:7883994|PMID:8640229|PMID:9536098|PMID:9590147|PMID:9887280 8970793 Ank1 ankyrin 1 gene DOID:0111959 immunodeficiency 15B ISO RGD:1320055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8970793 Ank1 ankyrin 1 gene DOID:0111991 immunodeficiency 62 ISO RGD:1320055 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Immunodeficiency 62 PMID:25741868|PMID:28492532 8970793 Ank1 ankyrin 1 gene DOID:10907 microcephaly ISO RGD:1320055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8970793 Ank1 ankyrin 1 gene DOID:12365 malaria ISO RGD:1320056 D RGD:9068941 20220825 MouseDO OMIM:609148 | OMIM:611162 8970793 Ank1 ankyrin 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1320055 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant PMID:25741868|PMID:28492532 8970793 Ank1 ankyrin 1 gene DOID:12971 hereditary spherocytosis severity ISO RGD:1320056 D RGD:9068941 20200609 RGD DNA:deletion mutation:exon: PMID:14671619|REF_RGD_ID:11251681 8970793 Ank1 ankyrin 1 gene DOID:224 transient cerebral ischemia ISO RGD:1309620 D RGD:9068941 20200609 RGD PMID:9202331|REF_RGD_ID:1599109 8970793 Ank1 ankyrin 1 gene DOID:2355 anemia ISO RGD:1320055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia PMID:25741868 8970793 Ank1 ankyrin 1 gene DOID:2355 anemia severity ISO RGD:1320055 D RGD:9068941 20200609 RGD associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns: PMID:11372755|REF_RGD_ID:11251706 8970793 Ank1 ankyrin 1 gene DOID:583 hemolytic anemia ISO RGD:1320055 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868 8970793 Ank1 ankyrin 1 gene DOID:630 genetic disease ISO RGD:1320055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8970793 Ank1 ankyrin 1 gene DOID:9000582 Reticulocytosis severity ISO RGD:1320055 D RGD:9068941 20200609 RGD associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns: PMID:11372755|REF_RGD_ID:11251706 8970793 Ank1 ankyrin 1 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:1320056 D RGD:9068941 20200609 RGD PMID:23390527|REF_RGD_ID:11041609 8970793 Ank1 ankyrin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1309620 D RGD:9068941 20200609 RGD PMID:9378703|REF_RGD_ID:1599110 8970793 Ank1 ankyrin 1 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1320055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8970853 Eif3f eukaryotic translation initiation factor 3 subunit F gene DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ISO RGD:1314535 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies PMID:25741868|PMID:30409806|PMID:33736665 8970853 Eif3f eukaryotic translation initiation factor 3 subunit F gene DOID:0081228 autosomal recessive intellectual developmental disorder 67 ISO RGD:1314535 D RGD:7240710 20190315 OMIM 8970853 Eif3f eukaryotic translation initiation factor 3 subunit F gene DOID:0081228 autosomal recessive intellectual developmental disorder 67 ISO RGD:1314535 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 67 PMID:25741868|PMID:30409806|PMID:33736665 8970853 Eif3f eukaryotic translation initiation factor 3 subunit F gene DOID:1059 intellectual disability ISO RGD:1314535 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30409806|PMID:33736665 8970853 Eif3f eukaryotic translation initiation factor 3 subunit F gene DOID:630 genetic disease ISO RGD:1314535 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30409806|PMID:33736665 8970853 Eif3f eukaryotic translation initiation factor 3 subunit F gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314535 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:30409806|PMID:33736665 8970853 Eif3f eukaryotic translation initiation factor 3 subunit F gene DOID:9352 type 2 diabetes mellitus ISO RGD:1306112 D RGD:9068941 20200609 RGD PMID:12875716|REF_RGD_ID:10755506 8970865 Tctn2 tectonic family member 2 gene DOID:0050777 Joubert syndrome ISO RGD:1605624 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:21462283|PMID:21565611|PMID:25118024|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248 8970865 Tctn2 tectonic family member 2 gene DOID:0050778 Meckel syndrome ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 8970865 Tctn2 tectonic family member 2 gene DOID:0070120 Meckel syndrome 6 ISO RGD:1605624 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:16199547|PMID:21462283|PMID:21565611|PMID:23169490|PMID:25741868|PMID:26729329|PMID:28492532|PMID:31428121 8970865 Tctn2 tectonic family member 2 gene DOID:0070122 Meckel syndrome 8 ISO RGD:1605624 D RGD:7240710 20180130 OMIM 8970865 Tctn2 tectonic family member 2 gene DOID:0070122 Meckel syndrome 8 ISO RGD:1605624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 8 | ClinVar Annotator: match by term: TCTN2-Related Disorders PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:23169490|PMID:25118024|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28492532|PMID:31428121|PMID:9536098 8970865 Tctn2 tectonic family member 2 gene DOID:0070134 autosomal recessive cutis laxa type IIA ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa with osteodystrophy PMID:25741868 8970865 Tctn2 tectonic family member 2 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:28492532 8970865 Tctn2 tectonic family member 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis PMID:16199547|PMID:17576681|PMID:21565611|PMID:22331178|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:9536098 8970865 Tctn2 tectonic family member 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605624 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:23169490|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28492532|PMID:28771248|PMID:31428121|PMID:9536098 8970865 Tctn2 tectonic family member 2 gene DOID:0110993 Joubert syndrome 24 ISO RGD:1605624 D RGD:7240710 20180130 OMIM 8970865 Tctn2 tectonic family member 2 gene DOID:0110993 Joubert syndrome 24 ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 24 PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:25118024|PMID:25741868|PMID:26092869|PMID:28492532|PMID:9536098 8970865 Tctn2 tectonic family member 2 gene DOID:10907 microcephaly ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8970865 Tctn2 tectonic family member 2 gene DOID:630 genetic disease ISO RGD:1605624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8970865 Tctn2 tectonic family member 2 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1605624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive PMID:25741868|PMID:28492532 8970892 Usp10 ubiquitin specific peptidase 10 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1352341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8970892 Usp10 ubiquitin specific peptidase 10 gene DOID:5419 schizophrenia ISO RGD:1352341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8970892 Usp10 ubiquitin specific peptidase 10 gene DOID:630 genetic disease ISO RGD:1352341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970913 Stk24 serine/threonine kinase 24 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1345827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8970913 Stk24 serine/threonine kinase 24 gene DOID:4621 holoprosencephaly ISO RGD:1345827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 8970913 Stk24 serine/threonine kinase 24 gene DOID:630 genetic disease ISO RGD:1345827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970913 Stk24 serine/threonine kinase 24 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1345827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8970935 Mier1 MIER1 transcriptional regulator gene DOID:1059 intellectual disability ISO RGD:1605649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8970935 Mier1 MIER1 transcriptional regulator gene DOID:630 genetic disease ISO RGD:1605649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8970969 P2rx1 purinergic receptor P2X 1 gene DOID:3602 toxic encephalopathy ISO RGD:736780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8970969 P2rx1 purinergic receptor P2X 1 gene DOID:3613 Canavan disease ISO RGD:736780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:19932039|PMID:28492532 8970969 P2rx1 purinergic receptor P2X 1 gene DOID:630 genetic disease ISO RGD:736780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971006 Vamp1 vesicle associated membrane protein 1 gene DOID:0050772 spastic ataxia 1 ISO RGD:736120 D RGD:7240710 20180130 OMIM 8971006 Vamp1 vesicle associated membrane protein 1 gene DOID:0050772 spastic ataxia 1 ISO RGD:736120 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia 1 PMID:11774073|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28492532 8971006 Vamp1 vesicle associated membrane protein 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:736120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8971006 Vamp1 vesicle associated membrane protein 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:736120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8971006 Vamp1 vesicle associated membrane protein 1 gene DOID:0111621 Temtamy syndrome ISO RGD:736120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8971006 Vamp1 vesicle associated membrane protein 1 gene DOID:3635 congenital myasthenic syndrome ISO RGD:736120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:28253535 8971006 Vamp1 vesicle associated membrane protein 1 gene DOID:607 paraplegia ISO RGD:736120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11774073|PMID:17576681|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:30293248|PMID:33631708|PMID:9536098 8971006 Vamp1 vesicle associated membrane protein 1 gene DOID:9004718 Congenital Myasthenic Syndrome 25 ISO RGD:736120 D RGD:7240710 20190315 OMIM 8971006 Vamp1 vesicle associated membrane protein 1 gene DOID:9004718 Congenital Myasthenic Syndrome 25 ISO RGD:736120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:28600779 8971006 Vamp1 vesicle associated membrane protein 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:736120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8971040 Vapa VAMP associated protein A gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:737415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8971040 Vapa VAMP associated protein A gene DOID:1059 intellectual disability ISO RGD:737415 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8971040 Vapa VAMP associated protein A gene DOID:543 dystonia ISO RGD:737415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8971040 Vapa VAMP associated protein A gene DOID:630 genetic disease ISO RGD:737415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971050 Rtkn2 rhotekin 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1312504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 8971050 Rtkn2 rhotekin 2 gene DOID:630 genetic disease ISO RGD:1312504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971068 Ptcd3 pentatricopeptide repeat domain 3 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1605991 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8971068 Ptcd3 pentatricopeptide repeat domain 3 gene DOID:0112137 combined oxidative phosphorylation deficiency 51 ISO RGD:1605991 D RGD:7240710 20201111 OMIM 8971068 Ptcd3 pentatricopeptide repeat domain 3 gene DOID:0112137 combined oxidative phosphorylation deficiency 51 ISO RGD:1605991 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 51 PMID:25741868|PMID:30607703|PMID:36450274 8971068 Ptcd3 pentatricopeptide repeat domain 3 gene DOID:630 genetic disease ISO RGD:1605991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971068 Ptcd3 pentatricopeptide repeat domain 3 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1605991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 8971099 Evi5l ecotropic viral integration site 5 like gene DOID:0080490 mucolipidosis type IV ISO RGD:1347720 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8971099 Evi5l ecotropic viral integration site 5 like gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1347720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8971099 Evi5l ecotropic viral integration site 5 like gene DOID:630 genetic disease ISO RGD:1347720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971135 Fscn3 fascin actin-bundling protein 3 gene DOID:10892 hypospadias ISO RGD:1353847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 8971135 Fscn3 fascin actin-bundling protein 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353847 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8971135 Fscn3 fascin actin-bundling protein 3 gene DOID:630 genetic disease ISO RGD:1353847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971154 Klk11 kallikrein related peptidase 11 gene DOID:630 genetic disease ISO RGD:1318610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971154 Klk11 kallikrein related peptidase 11 gene DOID:9002915 Ichthyosis with Erythrokeratoderma ISO RGD:1318610 D RGD:7240710 20230927 OMIM 8971154 Klk11 kallikrein related peptidase 11 gene DOID:9002915 Ichthyosis with Erythrokeratoderma ISO RGD:1318610 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Ichthyosis with erythrokeratoderma PMID:36689511|PMID:37212630 8971175 Bzw2 basic leucine zipper and W2 domains 2 gene DOID:0080600 COVID-19 ISO RGD:731291 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8971175 Bzw2 basic leucine zipper and W2 domains 2 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:731291 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 PMID:23288328|PMID:28492532 8971175 Bzw2 basic leucine zipper and W2 domains 2 gene DOID:3910 lung adenocarcinoma ISO RGD:731291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8971175 Bzw2 basic leucine zipper and W2 domains 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8971175 Bzw2 basic leucine zipper and W2 domains 2 gene DOID:630 genetic disease ISO RGD:731291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971175 Bzw2 basic leucine zipper and W2 domains 2 gene DOID:9006205 Animal Disease Models ISO RGD:731291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8971193 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:0050742 nicotine dependence ISO RGD:1347400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20418888 8971193 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:0090039 torsion dystonia 6 ISO RGD:1347400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 8971193 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:0111959 immunodeficiency 15B ISO RGD:1347400 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8971193 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:1470 major depressive disorder ISO RGD:1347400 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 8971193 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:1596 depressive disorder ISO RGD:1347400 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 8971193 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:1596 depressive disorder ISO RGD:621544 D RGD:9068941 20220128 RGD mRNA:decreased expression:habenula: PMID:28420875|REF_RGD_ID:151347550 8971193 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:630 genetic disease ISO RGD:1347400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971193 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:1347400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28851948 8971193 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1347400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 8971193 Chrnb3 cholinergic receptor nicotinic beta 3 subunit gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1347400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8971203 Coq3 coenzyme Q3, methyltransferase gene DOID:630 genetic disease ISO RGD:732708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971214 Pigr polymeric immunoglobulin receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 8971214 Pigr polymeric immunoglobulin receptor gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 8971214 Pigr polymeric immunoglobulin receptor gene DOID:12849 autistic disorder ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8971214 Pigr polymeric immunoglobulin receptor gene DOID:1540 parathyroid carcinoma ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8971214 Pigr polymeric immunoglobulin receptor gene DOID:2986 IgA glomerulonephritis ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgA glomerulonephritis PMID:12740691|PMID:16282702 8971214 Pigr polymeric immunoglobulin receptor gene DOID:630 genetic disease ISO RGD:737525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971214 Pigr polymeric immunoglobulin receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:737525 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:36914835 8971214 Pigr polymeric immunoglobulin receptor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:737525 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8971214 Pigr polymeric immunoglobulin receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8971233 Taar1 trace amine associated receptor 1 gene DOID:5419 schizophrenia ISO RGD:1553140 D RGD:9068941 20220825 MouseDO OMIM:181500 8971233 Taar1 trace amine associated receptor 1 gene DOID:630 genetic disease ISO RGD:1346236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971238 Klf1 KLF transcription factor 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1319723 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8971238 Klf1 KLF transcription factor 1 gene DOID:0090016 chromosome 5q deletion syndrome ISO RGD:1319723 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow, blood PMID:22965552|REF_RGD_ID:10769343 8971238 Klf1 KLF transcription factor 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1319723 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8971238 Klf1 KLF transcription factor 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1319723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11825066|PMID:11854167|PMID:16602100|PMID:17576681|PMID:19486177|PMID:25735478|PMID:25741868|PMID:27250579|PMID:28492532|PMID:31536184|PMID:7795610|PMID:9536098 8971238 Klf1 KLF transcription factor 1 gene DOID:0111400 congenital dyserythropoietic anemia type IV ISO RGD:1319723 D RGD:7240710 20191009 OMIM 8971238 Klf1 KLF transcription factor 1 gene DOID:0111400 congenital dyserythropoietic anemia type IV ISO RGD:1319723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia type 4 | ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type IV | ClinVar Annotator: match by term: KLF1-related condition PMID:11825066|PMID:1659863|PMID:17576681|PMID:21055716|PMID:21778342|PMID:23125034|PMID:23522491|PMID:24033266|PMID:25741868|PMID:27013732|PMID:28102861|PMID:28492532|PMID:29200155|PMID:29300242|PMID:29396846|PMID:31536184|PMID:7795610|PMID:9536098 8971238 Klf1 KLF transcription factor 1 gene DOID:12241 beta thalassemia ISO RGD:1319724 D RGD:9068941 20220825 MouseDO OMIM:187550 | OMIM:603902 | OMIM:613985 8971238 Klf1 KLF transcription factor 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1319724 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.E339D (1065A>T) (human) PMID:20691777|REF_RGD_ID:10769342 8971238 Klf1 KLF transcription factor 1 gene DOID:12971 hereditary spherocytosis ISO RGD:1319724 D RGD:9068941 20220825 MouseDO 8971238 Klf1 KLF transcription factor 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1319723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8971238 Klf1 KLF transcription factor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1319723 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow, blood PMID:22965552|REF_RGD_ID:10769343 8971238 Klf1 KLF transcription factor 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1319723 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8971238 Klf1 KLF transcription factor 1 gene DOID:630 genetic disease ISO RGD:1319723 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8971238 Klf1 KLF transcription factor 1 gene DOID:74 hematopoietic system disease ISO RGD:1319723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20676099 8971238 Klf1 KLF transcription factor 1 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1319723 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 8971238 Klf1 KLF transcription factor 1 gene DOID:9005515 Therapy-related Acute Myeloid Leukemia ISO RGD:1319723 D RGD:9068941 20200609 RGD PMID:12417757|REF_RGD_ID:10769345 8971238 Klf1 KLF transcription factor 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319723 D RGD:9068941 20200609 RGD PMID:19097174|REF_RGD_ID:10769344 8971245 Dcaf7 DDB1 and CUL4 associated factor 7 gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1604053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 8971245 Dcaf7 DDB1 and CUL4 associated factor 7 gene DOID:630 genetic disease ISO RGD:1604053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971245 Dcaf7 DDB1 and CUL4 associated factor 7 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1604053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF PMID:19136951|PMID:21303734|PMID:28492532 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:0070301 multiple epiphyseal dysplasia 6 ISO RGD:1298223 D RGD:7240710 20180130 OMIM 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:0070301 multiple epiphyseal dysplasia 6 ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COL9A1-related condition | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 6 PMID:11565064|PMID:16199547|PMID:16909383|PMID:17576681|PMID:21421862|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:9536098 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:11830 myopia ISO RGD:1298223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16909383 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1298223 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant PMID:17576681|PMID:28492532|PMID:9536098 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:1298223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:1298223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11565064|PMID:16909383 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1298223 D RGD:9068941 20200609 RGD DNA:mutation PMID:11565064|REF_RGD_ID:1600949 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:5679 retinal disease ISO RGD:1298223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16909383 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:630 genetic disease ISO RGD:1298223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16909383|PMID:21421862|PMID:25741868|PMID:28492532 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:1298223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16909383|PMID:17576681|PMID:21421862|PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:9536098 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:8398 osteoarthritis ISO RGD:1319762 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:9001539 Stickler Syndrome, Type IV ISO RGD:1298223 D RGD:7240710 20180130 OMIM 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:9001539 Stickler Syndrome, Type IV ISO RGD:1298223 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Recessive | ClinVar Annotator: match by term: Stickler syndrome, type 4 PMID:16199547|PMID:16909383|PMID:17576681|PMID:20301479|PMID:21421862|PMID:23967202|PMID:24036952|PMID:25741868|PMID:26467025|PMID:27959697|PMID:28492532|PMID:30311386|PMID:9536098 8971258 Col9a1 collagen type IX alpha 1 chain gene DOID:9004538 Hearing Loss ISO RGD:1298223 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 8971304 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8971304 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 8971304 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:0111254 glutaric acidemia I ISO RGD:1320493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 8971304 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:3413 alpha-mannosidosis ISO RGD:1320493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 8971304 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:630 genetic disease ISO RGD:1320493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971304 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1320493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8971304 Rad23a RAD23 homolog A, nucleotide excision repair protein gene DOID:9000918 Disease Progression ISO RGD:1320493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8971322 Necap2 NECAP endocytosis associated 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603996 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8971322 Necap2 NECAP endocytosis associated 2 gene DOID:10283 prostate cancer ISO RGD:1603996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8971322 Necap2 NECAP endocytosis associated 2 gene DOID:630 genetic disease ISO RGD:1603996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971341 Mrm3 mitochondrial rRNA methyltransferase 3 gene DOID:630 genetic disease ISO RGD:1351342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971357 B3galt5 beta-1,3-galactosyltransferase 5 gene DOID:12849 autistic disorder ISO RGD:1315510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8971357 B3galt5 beta-1,3-galactosyltransferase 5 gene DOID:1793 pancreatic cancer ISO RGD:1315510 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:14555842|REF_RGD_ID:2317558 8971374 Igsf5 immunoglobulin superfamily member 5 gene DOID:12849 autistic disorder ISO RGD:1352549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8971374 Igsf5 immunoglobulin superfamily member 5 gene DOID:630 genetic disease ISO RGD:1352549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971374 Igsf5 immunoglobulin superfamily member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352549 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8971403 Avpi1 arginine vasopressin induced 1 gene DOID:630 genetic disease ISO RGD:1353971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971403 Avpi1 arginine vasopressin induced 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1353971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8971412 Ikzf3 IKAROS family zinc finger 3 gene DOID:0050685 small cell carcinoma ISO RGD:1315971 D RGD:9068941 20220204 RGD protein:increased expression:lung (human) PMID:24823637|REF_RGD_ID:151347636 8971412 Ikzf3 IKAROS family zinc finger 3 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1315971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 8971412 Ikzf3 IKAROS family zinc finger 3 gene DOID:2841 asthma ISO RGD:1315971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25256354 8971412 Ikzf3 IKAROS family zinc finger 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1315971 D RGD:9068941 20220204 RGD protein:increased expression:lung (human) PMID:24823637|REF_RGD_ID:151347636 8971412 Ikzf3 IKAROS family zinc finger 3 gene DOID:630 genetic disease ISO RGD:1315971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971412 Ikzf3 IKAROS family zinc finger 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1315971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8971412 Ikzf3 IKAROS family zinc finger 3 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1315971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 8971412 Ikzf3 IKAROS family zinc finger 3 gene DOID:9006187 Immunodeficiency 84 ISO RGD:1315971 D RGD:7240710 20210804 OMIM 8971412 Ikzf3 IKAROS family zinc finger 3 gene DOID:9006187 Immunodeficiency 84 ISO RGD:1315971 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 84 PMID:25741868|PMID:34155405 8971412 Ikzf3 IKAROS family zinc finger 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1315972 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8971412 Ikzf3 IKAROS family zinc finger 3 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1315971 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 8971425 Dpf3 double PHD fingers 3 gene DOID:0060224 atrial fibrillation ISO RGD:1319176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8971425 Dpf3 double PHD fingers 3 gene DOID:1059 intellectual disability ISO RGD:1319176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8971425 Dpf3 double PHD fingers 3 gene DOID:630 genetic disease ISO RGD:1319176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971448 Tsks testis specific serine kinase substrate gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1602690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8971448 Tsks testis specific serine kinase substrate gene DOID:2661 myoepithelioma ISO RGD:1602690 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8971448 Tsks testis specific serine kinase substrate gene DOID:630 genetic disease ISO RGD:1602690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971486 Vcl vinculin gene DOID:0050700 cardiomyopathy ISO RGD:1322560 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15331426|PMID:15769782|PMID:16236538|PMID:16712796|PMID:17785437|PMID:22421524|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25332820|PMID:25351510|PMID:25741868|PMID:26191084|PMID:26458567|PMID:26656175|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28492532|PMID:28771489|PMID:29247119|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:33012304|PMID:33302605|PMID:33491343|PMID:35284542 8971486 Vcl vinculin gene DOID:0050700 cardiomyopathy ISO RGD:1322560 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15331426|PMID:15769782|PMID:16236538|PMID:16712796|PMID:17785437|PMID:22421524|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25332820|PMID:25351510|PMID:25741868|PMID:26191084|PMID:26458567|PMID:26656175|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28492532|PMID:28771489|PMID:29247119|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:33012304|PMID:33302605|PMID:33491343|PMID:33500567|PMID:35284542 8971486 Vcl vinculin gene DOID:0050793 short QT syndrome ISO RGD:1322560 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:25741868 8971486 Vcl vinculin gene DOID:0060041 autism spectrum disorder ISO RGD:1322560 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8971486 Vcl vinculin gene DOID:0060319 cardiac arrest ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532 8971486 Vcl vinculin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:28492532|PMID:30847666|PMID:31983221|PMID:32880476 8971486 Vcl vinculin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:28492532|PMID:30847666|PMID:31983221|PMID:32880476 8971486 Vcl vinculin gene DOID:0110321 hypertrophic cardiomyopathy 15 ISO RGD:1322560 D RGD:7240710 20180130 OMIM 8971486 Vcl vinculin gene DOID:0110321 hypertrophic cardiomyopathy 15 ISO RGD:1322560 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 15 | ClinVar Annotator: match by term: VCL-related condition PMID:11815424|PMID:16236538|PMID:16712796|PMID:16949038|PMID:17097056|PMID:22421524|PMID:23159629|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24062880|PMID:24227891|PMID:24503780|PMID:25299611|PMID:25332820|PMID:25351510|PMID:25741868|PMID:26458567|PMID:26735901|PMID:27503891|PMID:27532257|PMID:27930701|PMID:28087426|PMID:28492532|PMID:28771489|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:32880476|PMID:33012304|PMID:33302605|PMID:33491343|PMID:33500567|PMID:35091851|PMID:35284542 8971486 Vcl vinculin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:15769782|PMID:16236538|PMID:16712796|PMID:17785437|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26191084|PMID:27930701|PMID:28492532|PMID:28771489|PMID:29875424|PMID:31513939 8971486 Vcl vinculin gene DOID:0110446 dilated cardiomyopathy 1W ISO RGD:1322560 D RGD:7240710 20180130 OMIM 8971486 Vcl vinculin gene DOID:0110446 dilated cardiomyopathy 1W ISO RGD:1322560 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:11815424|PMID:15331426|PMID:15769782|PMID:16199547|PMID:16236538|PMID:16712796|PMID:16949038|PMID:17097056|PMID:17576681|PMID:17785437|PMID:20474083|PMID:21681106|PMID:22421524|PMID:23159629|PMID:23299917|PMID:23396983|PMID:23785128|PMID:23861362|PMID:24033266|PMID:24062880|PMID:24227891|PMID:24503780|PMID:25163546|PMID:25299611|PMID:25332820|PMID:25351510|PMID:25500949|PMID:25741868|PMID:26191084|PMID:26458567|PMID:26656175|PMID:26735901|PMID:26776555|PMID:27503891|PMID:27532257|PMID:27930701|PMID:27957775|PMID:28087426|PMID:28087566|PMID:28218286|PMID:28492532|PMID:28611029|PMID:28771489|PMID:29247119|PMID:29255176|PMID:29540472|PMID:29875424|PMID:30847666|PMID:30923642|PMID:31513939|PMID:31737537|PMID:31983221|PMID:32516855|PMID:32880476|PMID:33012304|PMID:33302605|PMID:33491343|PMID:33500567|PMID:33658040|PMID:34598319|PMID:34935411|PMID:35091851|PMID:35284542|PMID:9536098 8971486 Vcl vinculin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1322560 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:24033266|PMID:24062880|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:32880476 8971486 Vcl vinculin gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1322560 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 PMID:16783378|PMID:20301718|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8971486 Vcl vinculin gene DOID:10487 Hirschsprung's disease ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirschsprung disease PMID:24033266|PMID:25741868|PMID:28492532 8971486 Vcl vinculin gene DOID:11476 osteoporosis ISO RGD:1322560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8971486 Vcl vinculin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1322560 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16712796|PMID:23299917|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27930701|PMID:28492532|PMID:28771489|PMID:29255176|PMID:29875424|PMID:30847666|PMID:31513939|PMID:33012304 8971486 Vcl vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11815424|PMID:16949038|PMID:17785437|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642 8971486 Vcl vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11815424|PMID:16949038|PMID:17785437|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642|PMID:32516855 8971486 Vcl vinculin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322560 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11815424|PMID:16949038|PMID:17785437|PMID:20474083|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26191084|PMID:26656175|PMID:26735901|PMID:27532257|PMID:28492532|PMID:30923642|PMID:32516855|PMID:32659924|PMID:34935411 8971486 Vcl vinculin gene DOID:2843 long QT syndrome ISO RGD:1322560 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8971486 Vcl vinculin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1322560 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 8971486 Vcl vinculin gene DOID:6000 congestive heart failure ISO RGD:1322560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:24033266|PMID:25741868|PMID:28492532|PMID:33500567 8971486 Vcl vinculin gene DOID:630 genetic disease ISO RGD:1322560 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8971486 Vcl vinculin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction PMID:11815424|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532 8971486 Vcl vinculin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1322560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8971486 Vcl vinculin gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1322560 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:34801851 8971486 Vcl vinculin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1322560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17785437|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26191084|PMID:28492532 8971486 Vcl vinculin gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1322560 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 8971486 Vcl vinculin gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1322560 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 8971520 Ap1ar adaptor related protein complex 1 associated regulatory protein gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1347570 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:25741868 8971520 Ap1ar adaptor related protein complex 1 associated regulatory protein gene DOID:12271 aniridia ISO RGD:1347570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 8971520 Ap1ar adaptor related protein complex 1 associated regulatory protein gene DOID:630 genetic disease ISO RGD:1347570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971533 Cntn5 contactin 5 gene DOID:10487 Hirschsprung's disease ISO RGD:734326 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 8971533 Cntn5 contactin 5 gene DOID:1059 intellectual disability ISO RGD:734326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8971533 Cntn5 contactin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:734326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8971533 Cntn5 contactin 5 gene DOID:12849 autistic disorder ISO RGD:734326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8971533 Cntn5 contactin 5 gene DOID:630 genetic disease ISO RGD:734326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971570 Shoc1 shortage in chiasmata 1 gene DOID:9003010 Spermatogenic Failure 75 ISO RGD:1351188 D RGD:7240710 20221109 OMIM 8971570 Shoc1 shortage in chiasmata 1 gene DOID:9003010 Spermatogenic Failure 75 ISO RGD:1351188 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 75 PMID:32741963|PMID:32900840|PMID:35485979 8971636 Hormad1 HORMA domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8971636 Hormad1 HORMA domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8971636 Hormad1 HORMA domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8971636 Hormad1 HORMA domain containing 1 gene DOID:12336 male infertility ISO RGD:1346134 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868 8971636 Hormad1 HORMA domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8971636 Hormad1 HORMA domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8971636 Hormad1 HORMA domain containing 1 gene DOID:630 genetic disease ISO RGD:1346134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971636 Hormad1 HORMA domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8971678 Wnt10b Wnt family member 10B gene DOID:0090026 split hand-foot malformation 6 ISO RGD:1312744 D RGD:7240710 20180130 OMIM 8971678 Wnt10b Wnt family member 10B gene DOID:0090026 split hand-foot malformation 6 ISO RGD:1312744 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 6 PMID:12072797|PMID:18515319|PMID:20635353|PMID:25741868|PMID:28492532|PMID:31050392 8971678 Wnt10b Wnt family member 10B gene DOID:630 genetic disease ISO RGD:1312744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8971678 Wnt10b Wnt family member 10B gene DOID:9001843 Selective Tooth Agenesis 8 ISO RGD:1312744 D RGD:7240710 20190315 OMIM 8971678 Wnt10b Wnt family member 10B gene DOID:9001843 Selective Tooth Agenesis 8 ISO RGD:1312744 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 8 PMID:25741868|PMID:27321946|PMID:28492532 8971678 Wnt10b Wnt family member 10B gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8971678 Wnt10b Wnt family member 10B gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1312744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8971678 Wnt10b Wnt family member 10B gene DOID:9008939 Breast Neoplasms ISO RGD:1312744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12437293 8971678 Wnt10b Wnt family member 10B gene DOID:9970 obesity ISO RGD:1312744 D RGD:9068941 20200609 RGD DNA:SNP:CDS:amino acid C256Y, mutant unable to activate WNT/beta-catenin signaling pathway PMID:16477437|REF_RGD_ID:2300029 8971678 Wnt10b Wnt family member 10B gene DOID:9970 obesity ISO RGD:1312745 D RGD:9068941 20200609 RGD PMID:17578883|REF_RGD_ID:2326237 8971701 Nufip2 nuclear FMR1 interacting protein 2 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1606255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8971701 Nufip2 nuclear FMR1 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1606255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971709 Myo10 myosin X gene DOID:630 genetic disease ISO RGD:1316238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971709 Myo10 myosin X gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8971709 Myo10 myosin X gene DOID:9004657 Weight Gain ISO RGD:1316238 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348364 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:12849 autistic disorder ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:3070 high grade glioma disease_progression ISO RGD:1348364 D RGD:9068941 20200609 RGD PMID:27852048|REF_RGD_ID:13702476 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:24569458|PMID:26619011 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:24569458|PMID:26619011 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:24569458|PMID:26619011 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:1348364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:8923 skin melanoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:24569458|PMID:26619011 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1348364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:24569458|PMID:26619011 8971751 Araf A-Raf proto-oncogene, serine/threonine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1348364 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12432273 8971778 Nrep neuronal regeneration related protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1351571 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8971778 Nrep neuronal regeneration related protein gene DOID:0080600 COVID-19 ISO RGD:1351571 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8971778 Nrep neuronal regeneration related protein gene DOID:630 genetic disease ISO RGD:1351571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971778 Nrep neuronal regeneration related protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8971778 Nrep neuronal regeneration related protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8971778 Nrep neuronal regeneration related protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8971778 Nrep neuronal regeneration related protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1351571 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8971778 Nrep neuronal regeneration related protein gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8971778 Nrep neuronal regeneration related protein gene DOID:9452 steatotic liver disease ISO RGD:1351571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8971807 Pde4dip phosphodiesterase 4D interacting protein gene DOID:1540 parathyroid carcinoma ISO RGD:1352019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8971807 Pde4dip phosphodiesterase 4D interacting protein gene DOID:5419 schizophrenia ISO RGD:1352019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8971807 Pde4dip phosphodiesterase 4D interacting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8971880 Tacr1 tachykinin receptor 1 gene DOID:0060001 withdrawal disorder ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7692360 8971880 Tacr1 tachykinin receptor 1 gene DOID:0060037 developmental disorder of mental health ISO RGD:731008 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 8971880 Tacr1 tachykinin receptor 1 gene DOID:0060180 colitis ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18715640|REF_RGD_ID:2304260 8971880 Tacr1 tachykinin receptor 1 gene DOID:0080821 exercise-induced bronchoconstriction ISO RGD:731008 D RGD:9068941 20200609 RGD PMID:8630576|REF_RGD_ID:5147837 8971880 Tacr1 tachykinin receptor 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3811 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:12857498|REF_RGD_ID:5147821 8971880 Tacr1 tachykinin receptor 1 gene DOID:10763 hypertension ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21294877 8971880 Tacr1 tachykinin receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19204064 8971880 Tacr1 tachykinin receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731009 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 8971880 Tacr1 tachykinin receptor 1 gene DOID:11396 pulmonary edema ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:19633070|REF_RGD_ID:5147816 8971880 Tacr1 tachykinin receptor 1 gene DOID:1176 bronchial disease ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15774269 8971880 Tacr1 tachykinin receptor 1 gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:10516226|REF_RGD_ID:5147822 8971880 Tacr1 tachykinin receptor 1 gene DOID:1574 alcohol use disorder ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19204064 8971880 Tacr1 tachykinin receptor 1 gene DOID:1679 cystitis ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:17382773|REF_RGD_ID:2304340 8971880 Tacr1 tachykinin receptor 1 gene DOID:2841 asthma ISO RGD:3811 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:16409782|REF_RGD_ID:5147475 8971880 Tacr1 tachykinin receptor 1 gene DOID:2841 asthma ISO RGD:3811 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:17392578|REF_RGD_ID:2304339 8971880 Tacr1 tachykinin receptor 1 gene DOID:2841 asthma ISO RGD:731008 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:8240667|REF_RGD_ID:5147645 8971880 Tacr1 tachykinin receptor 1 gene DOID:3312 bipolar disorder ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19204064 8971880 Tacr1 tachykinin receptor 1 gene DOID:4481 allergic rhinitis ISO RGD:3811 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal mucosa PMID:12768696|REF_RGD_ID:5147835 8971880 Tacr1 tachykinin receptor 1 gene DOID:4989 pancreatitis ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18580444|REF_RGD_ID:2304266 8971880 Tacr1 tachykinin receptor 1 gene DOID:4989 pancreatitis ISO RGD:731009 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, pancreas PMID:16369913|REF_RGD_ID:5147636 8971880 Tacr1 tachykinin receptor 1 gene DOID:630 genetic disease ISO RGD:731008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971880 Tacr1 tachykinin receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:12662901|REF_RGD_ID:5147638 8971880 Tacr1 tachykinin receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18945947|REF_RGD_ID:2304258 8971880 Tacr1 tachykinin receptor 1 gene DOID:9000310 Lung Injury ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:17565047|REF_RGD_ID:5147820 8971880 Tacr1 tachykinin receptor 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:17542534|REF_RGD_ID:1626451 8971880 Tacr1 tachykinin receptor 1 gene DOID:9000641 Pain ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18407414|REF_RGD_ID:2304276 8971880 Tacr1 tachykinin receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18063836|REF_RGD_ID:5147833 8971880 Tacr1 tachykinin receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:15272104|REF_RGD_ID:5147834 8971880 Tacr1 tachykinin receptor 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:20176632|REF_RGD_ID:5147811 8971880 Tacr1 tachykinin receptor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18326823|REF_RGD_ID:2304321 8971880 Tacr1 tachykinin receptor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17257769|PMID:21570423 8971880 Tacr1 tachykinin receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964684|PMID:17123731 8971880 Tacr1 tachykinin receptor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:731009 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18523300|REF_RGD_ID:5147819 8971880 Tacr1 tachykinin receptor 1 gene DOID:9004657 Weight Gain ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:21467195|REF_RGD_ID:5147668 8971880 Tacr1 tachykinin receptor 1 gene DOID:9005372 Inflammation ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18053315|REF_RGD_ID:2304327 8971880 Tacr1 tachykinin receptor 1 gene DOID:9006024 Hypotension ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18337316|PMID:19261870|REF_RGD_ID:2304250|REF_RGD_ID:2304320 8971880 Tacr1 tachykinin receptor 1 gene DOID:9007001 Bradycardia ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9696263 8971880 Tacr1 tachykinin receptor 1 gene DOID:9007480 Hyperoxia ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:19633070|REF_RGD_ID:5147816 8971880 Tacr1 tachykinin receptor 1 gene DOID:9007730 Burns ISO RGD:731009 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18523300|REF_RGD_ID:5147819 8971880 Tacr1 tachykinin receptor 1 gene DOID:9008385 Vomiting ISO RGD:731008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15680276 8971880 Tacr1 tachykinin receptor 1 gene DOID:9220 central sleep apnea ISO RGD:3811 D RGD:9068941 20200609 RGD PMID:18420958|REF_RGD_ID:2304275 8971880 Tacr1 tachykinin receptor 1 gene DOID:9675 pulmonary emphysema ISO RGD:731009 D RGD:9068941 20200609 RGD PMID:19445658|REF_RGD_ID:5147818 8971889 Cul3 cullin 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1317824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8971889 Cul3 cullin 3 gene DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 ISO RGD:1317824 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant PMID:25741868|PMID:28492532 8971889 Cul3 cullin 3 gene DOID:1059 intellectual disability ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8971889 Cul3 cullin 3 gene DOID:1909 melanoma ISO RGD:1317824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8971889 Cul3 cullin 3 gene DOID:4479 pseudohypoaldosteronism ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:22266938 8971889 Cul3 cullin 3 gene DOID:630 genetic disease ISO RGD:1317824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8971889 Cul3 cullin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8971889 Cul3 cullin 3 gene DOID:9002890 Pseudohypoaldosteronism, Type IIA ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:22266938 8971889 Cul3 cullin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8971889 Cul3 cullin 3 gene DOID:9004952 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES ISO RGD:1317824 D RGD:7240710 20220216 OMIM 8971889 Cul3 cullin 3 gene DOID:9004952 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES ISO RGD:1317824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autism or seizures PMID:16199547|PMID:25741868|PMID:27824329|PMID:28492532|PMID:29361671|PMID:32341456|PMID:32860008|PMID:33004838 8971889 Cul3 cullin 3 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1317824 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:32341456 8971889 Cul3 cullin 3 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1317824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 8971889 Cul3 cullin 3 gene DOID:9008890 Pseudohypoaldosteronism, Type IIE ISO RGD:1317824 D RGD:7240710 20180130 OMIM 8971889 Cul3 cullin 3 gene DOID:9008890 Pseudohypoaldosteronism, Type IIE ISO RGD:1317824 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CUL3-related condition | ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2E PMID:22266938|PMID:25741868|PMID:28492532|PMID:32341456|PMID:32860008 8971926 Mtpap mitochondrial poly(A) polymerase gene DOID:0050943 spastic ataxia 4 ISO RGD:1322070 D RGD:7240710 20180130 OMIM 8971926 Mtpap mitochondrial poly(A) polymerase gene DOID:0050943 spastic ataxia 4 ISO RGD:1322070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4 PMID:20970105|PMID:24651433|PMID:25008111|PMID:25741868|PMID:26319014|PMID:26467025|PMID:28492532|PMID:31779033 8971926 Mtpap mitochondrial poly(A) polymerase gene DOID:0050952 spastic ataxia ISO RGD:1322070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8971926 Mtpap mitochondrial poly(A) polymerase gene DOID:1909 melanoma ISO RGD:1322070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8971926 Mtpap mitochondrial poly(A) polymerase gene DOID:630 genetic disease ISO RGD:1322070 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 8971942 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:2311472 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:31690835 8971942 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:1059 intellectual disability ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8971942 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:12849 autistic disorder ISO RGD:2311472 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:30208311|PMID:31690835 8971942 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:1932 Angelman syndrome ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome 8971942 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:5419 schizophrenia ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8971942 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:630 genetic disease ISO RGD:2311472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8971942 Entrep2 endosomal transmembrane epsin interactor 2 gene DOID:9001610 Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome ISO RGD:2311472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung disease, immunodeficiency, and chromosome breakage syndrome PMID:20864041|PMID:25741868|PMID:27427983|PMID:28492532 8971957 Prr13 proline rich 13 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21157449 8971957 Prr13 proline rich 13 gene DOID:630 genetic disease ISO RGD:1604010 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8971957 Prr13 proline rich 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8971957 Prr13 proline rich 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8971967 Oxgr1 oxoglutarate receptor 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 8971967 Oxgr1 oxoglutarate receptor 1 gene DOID:630 genetic disease ISO RGD:1346637 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:36571463 8971967 Oxgr1 oxoglutarate receptor 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1346637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8971967 Oxgr1 oxoglutarate receptor 1 gene DOID:9004712 Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis ISO RGD:1346637 D RGD:7240710 20230531 OMIM 8971967 Oxgr1 oxoglutarate receptor 1 gene DOID:9004712 Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis ISO RGD:1346637 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis PMID:36571463 8971967 Oxgr1 oxoglutarate receptor 1 gene DOID:9008821 Otitis Media with Effusion ISO RGD:1550957 D RGD:9068941 20200609 RGD PMID:23200873|REF_RGD_ID:7775025 8971973 Fam241a family with sequence similarity 241 member A gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1606723 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:25741868 8971973 Fam241a family with sequence similarity 241 member A gene DOID:12271 aniridia ISO RGD:1606723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 8972003 Loxl3 lysyl oxidase like 3 gene DOID:0070000 3-methylglutaconic aciduria type 8 ISO RGD:1322239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 8 PMID:17576681|PMID:27208207|PMID:28492532|PMID:9536098 8972003 Loxl3 lysyl oxidase like 3 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1322239 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8972003 Loxl3 lysyl oxidase like 3 gene DOID:0080046 Stickler syndrome ISO RGD:1322239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stickler syndrome PMID:25741868|PMID:28492532|PMID:32531858 8972003 Loxl3 lysyl oxidase like 3 gene DOID:3652 Leigh disease ISO RGD:1322239 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 8972003 Loxl3 lysyl oxidase like 3 gene DOID:543 dystonia ISO RGD:1322239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8972003 Loxl3 lysyl oxidase like 3 gene DOID:630 genetic disease ISO RGD:1322239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8972003 Loxl3 lysyl oxidase like 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1322239 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35841383 8972003 Loxl3 lysyl oxidase like 3 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1322239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8972003 Loxl3 lysyl oxidase like 3 gene DOID:9000918 Disease Progression ISO RGD:1322239 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:35841383 8972003 Loxl3 lysyl oxidase like 3 gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1322239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to PMID:15961413|PMID:18364387|PMID:18790661|PMID:19118185|PMID:21163861|PMID:25422467|PMID:25741868|PMID:28492532 8972003 Loxl3 lysyl oxidase like 3 gene DOID:9004584 Myopia 28 ISO RGD:1322239 D RGD:7240710 20220316 OMIM 8972003 Loxl3 lysyl oxidase like 3 gene DOID:9004584 Myopia 28 ISO RGD:1322239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 28, autosomal recessive PMID:26957899|PMID:28492532|PMID:33456446 8972022 Pigq phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8972022 Pigq phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347377 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8972022 Pigq phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:0112213 multiple congenital anomalies-hypotonia-seizures syndrome 4 ISO RGD:1347377 D RGD:7240710 20190911 OMIM 8972022 Pigq phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:0112213 multiple congenital anomalies-hypotonia-seizures syndrome 4 ISO RGD:1347377 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908|PMID:32746448 8972022 Pigq phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:1826 epilepsy ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:16199547|PMID:17576681|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908|PMID:9536098 8972022 Pigq phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:1826 epilepsy ISO RGD:1347377 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder PMID:16199547|PMID:17576681|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908|PMID:32746448|PMID:9536098 8972022 Pigq phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8972022 Pigq phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:630 genetic disease ISO RGD:1347377 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908|PMID:32746448 8972022 Pigq phosphatidylinositol glycan anchor biosynthesis class Q gene DOID:9008086 Developmental Disabilities ISO RGD:1347377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24463883|PMID:25558065|PMID:28492532 8972043 Plekha3 pleckstrin homology domain containing A3 gene DOID:0090048 dystonia 16 ISO RGD:1313158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532 8972043 Plekha3 pleckstrin homology domain containing A3 gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1313158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:21681106|PMID:22335739|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 8972043 Plekha3 pleckstrin homology domain containing A3 gene DOID:630 genetic disease ISO RGD:1313158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972080 Xylb xylulokinase gene DOID:0050451 Brugada syndrome ISO RGD:1316534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 8972080 Xylb xylulokinase gene DOID:630 genetic disease ISO RGD:1316534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972080 Xylb xylulokinase gene DOID:9001436 Immunodeficiency 68 ISO RGD:1316534 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 8972080 Xylb xylulokinase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1316534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8972080 Xylb xylulokinase gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1316534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8972103 Supt4h1 SPT4 homolog, DSIF elongation factor subunit gene DOID:0110980 Joubert syndrome 1 ISO RGD:1314951 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8972103 Supt4h1 SPT4 homolog, DSIF elongation factor subunit gene DOID:1059 intellectual disability ISO RGD:1314951 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 8972103 Supt4h1 SPT4 homolog, DSIF elongation factor subunit gene DOID:630 genetic disease ISO RGD:1314951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0050741 alcohol dependence ISO RGD:69220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0060041 autism spectrum disorder ISO RGD:69220 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0060071 pre-malignant neoplasm ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs671) (human) PMID:27214654|REF_RGD_ID:11536476 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:69218 D RGD:9068941 20200609 RGD PMID:25392542|PMID:31026768|REF_RGD_ID:15036808|REF_RGD_ID:15042863 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:0080952 AMED syndrome ISO RGD:69220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:10652 Alzheimer's disease onset ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:15126281|REF_RGD_ID:1599042 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:10763 hypertension no_association ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:12484509|REF_RGD_ID:1601163 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:10763 hypertension susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:11510748|REF_RGD_ID:1601164 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:114 heart disease ISO RGD:69219 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased activity:heart: PMID:20957334|REF_RGD_ID:7241590 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:12336 male infertility ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448831 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs671) (human) PMID:23550892|REF_RGD_ID:15042864 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E504K (human) PMID:29779728|REF_RGD_ID:14696777 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:14018 alcoholic liver cirrhosis susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with alcohol dependence;DNA:missense mutation:exon 12:p.E487K (human) PMID:11051375|REF_RGD_ID:15042858 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:14330 Parkinson's disease ISO RGD:69220 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24491970 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:1574 alcohol use disorder ISO RGD:69220 D RGD:9068941 20231026 CTD CTD Direct Evidence: marker/mechanism PMID:16404797|PMID:17590986 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:1574 alcohol use disorder ISO RGD:69220 D RGD:9068941 20231026 RGD PMID:10780266|REF_RGD_ID:734551 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:178 vascular disease ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18596060 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15714130|REF_RGD_ID:2325694 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.E504K (human) PMID:19068087|REF_RGD_ID:2325313 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:251 alcohol-induced mental disorder ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26711020 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:2841 asthma ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11506308|PMID:9600491 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:3454 brain infarction susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:17388993|REF_RGD_ID:1601161 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:3571 liver cancer ISO RGD:69218 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E487K (mouse) PMID:26150517|REF_RGD_ID:14696779 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16639733|PMID:22960999 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:409 liver disease susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with metabolic syndrome;DNA:polymorphism PMID:16408483|REF_RGD_ID:1601162 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:4404 occupational dermatitis ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16758956 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:5041 esophageal cancer ISO RGD:69220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal cancer, alcohol-related, susceptibility to PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:5844 myocardial infarction ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.E487K (human) PMID:12452318|REF_RGD_ID:2311152 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:630 genetic disease ISO RGD:69220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma no_association ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:exon 12: (human) PMID:10737710|REF_RGD_ID:15042859 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma severity ISO RGD:69220 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver (human) PMID:28027570|REF_RGD_ID:15036809 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds, exon 12:p.E487K (human) PMID:1916152|REF_RGD_ID:14696699 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: (rs671) (human) PMID:29765251|REF_RGD_ID:14700899 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with alcohol use disorder;DNA:missense mutation:cds: (human) PMID:18439068|REF_RGD_ID:15042862 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with alcoholic liver cirrhosis;DNA:missense mutation:cds:p.E487K (human) PMID:25778454|REF_RGD_ID:11054822 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with hepatitis B;DNA;missense mutation, haplotype:cds: (rs671) (human) PMID:26827895|REF_RGD_ID:15042857 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD associated with hepatitis C:DNA:SNP:exon 12 (human) PMID:12940444|REF_RGD_ID:14696778 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD protein:decreased expression: liver (human) PMID:26150517|REF_RGD_ID:14696779 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9000117 Esophageal Neoplasms ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8850269 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16404797|PMID:17590986 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:polymorphism:exon 12: (human) PMID:12198368|REF_RGD_ID:14981580 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases severity ISO RGD:69218 D RGD:9068941 20200609 RGD DNA:deletion:cds: (mouse) PMID:26173414|REF_RGD_ID:11076022 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds, exon 12:p.E487K (human) PMID:1916152|REF_RGD_ID:14696699 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9001285 Alcoholic Liver Diseases susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:3189338|REF_RGD_ID:14696790 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15650968 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9001583 Melanosis ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30721697 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:69218 D RGD:9068941 20200609 RGD protein:altered expression:liver (mouse) PMID:30671488|REF_RGD_ID:15036807 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:69219 D RGD:9068941 20200609 RGD protein:altered expression:liver (rat) PMID:29589772|REF_RGD_ID:14975297 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9002661 Diabetes Complications ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23500772 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9004484 Sepsis treatment ISO RGD:69219 D RGD:9068941 20200609 RGD associated with heat shock treatment;protein:altered expression, altered phosphorylation:liver, mitochondria (rat) PMID:17607160|REF_RGD_ID:15036802 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69218 D RGD:9068941 20200609 RGD PMID:22022451|REF_RGD_ID:7241603 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006912 Acute Alcohol Sensitivity ISO RGD:69220 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alcohol sensitivity, acute | ClinVar Annotator: match by term: Susceptibility to hangover PMID:10627091|PMID:10780266|PMID:15654505|PMID:15902904|PMID:16046871|PMID:16440063|PMID:16679777|PMID:17885622|PMID:18056758|PMID:20010786|PMID:22992668|PMID:25741868|PMID:28492532|PMID:2987944|PMID:33355142|PMID:4065146|PMID:6650498|PMID:7180842|PMID:7593603|PMID:8903321 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:69219 D RGD:9068941 20200609 RGD PMID:17058263|REF_RGD_ID:1599041 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver severity ISO RGD:69220 D RGD:9068941 20200609 RGD human transgene in mouse model PMID:25457208|REF_RGD_ID:15036811 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver susceptibility ISO RGD:69220 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E504K (human) PMID:29063269|REF_RGD_ID:14696776 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:69218 D RGD:9068941 20200609 RGD protein:altered processing:liver (mouse) PMID:29156373|REF_RGD_ID:15036805 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007039 Ventricular Dysfunction ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23500772 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007102 Myocardial Ischemia ISO RGD:69219 D RGD:9068941 20200609 RGD PMID:18787169|REF_RGD_ID:7241592 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69219 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21138988|REF_RGD_ID:7241599 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:69218 D RGD:9068941 20200609 RGD DNA:deletion:exon 3 (mouse) PMID:30121625|REF_RGD_ID:15036810 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:69218 D RGD:9068941 20200609 RGD DNA:deletion:exon 3 (mouse) PMID:24492981|REF_RGD_ID:14975148 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007588 Heart Injuries ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23500772 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007692 Insulin Resistance treatment ISO RGD:69219 D RGD:9068941 20200609 RGD protein:altered expression, altered activity:liver (rat) PMID:28688179|REF_RGD_ID:14981582 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007763 Flushing ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8903321 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69219 D RGD:9068941 20200609 RGD PMID:23468836|REF_RGD_ID:7241598 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9008443 Colorectal Neoplasms ISO RGD:69220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332725 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9352 type 2 diabetes mellitus ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:15563966|REF_RGD_ID:2311149 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9743 diabetic neuropathy ISO RGD:69218 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:15318096|REF_RGD_ID:2311150 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9743 diabetic neuropathy ISO RGD:69220 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:15318096|REF_RGD_ID:2311150 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9744 type 1 diabetes mellitus ISO RGD:69220 D RGD:9068941 20200609 RGD PMID:12706323|REF_RGD_ID:2311151 8972148 Aldh2 aldehyde dehydrogenase 2 family member gene DOID:9976 heroin dependence susceptibility ISO RGD:69220 D RGD:9068941 20240113 RGD DNA:polymorphism: : PMID:21723677|REF_RGD_ID:401959204 8972171 Unc50 unc-50 inner nuclear membrane RNA binding protein gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1343022 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8972171 Unc50 unc-50 inner nuclear membrane RNA binding protein gene DOID:630 genetic disease ISO RGD:1343022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972191 Ino80c INO80 complex subunit C gene DOID:1059 intellectual disability ISO RGD:1320959 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8972191 Ino80c INO80 complex subunit C gene DOID:630 genetic disease ISO RGD:1320959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:0050700 cardiomyopathy ISO RGD:733234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:18451336 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:12140 Chagas disease ISO RGD:733234 D RGD:9068941 20200609 RGD PMID:9148906|REF_RGD_ID:5509585 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:12143 neurogenic bladder ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20624991 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23408450|PMID:24033266|PMID:28166811|PMID:28492532 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733234 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23408450|PMID:24033266|PMID:28492532 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:1470 major depressive disorder ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:1890A>T (human) PMID:12116189|REF_RGD_ID:1358507 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:1470 major depressive disorder ISO RGD:733234 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:19103464|REF_RGD_ID:5509584 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:1508 candidiasis ISO RGD:1552578 D RGD:9068941 20200609 RGD PMID:19958780|REF_RGD_ID:5509581 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:1596 depressive disorder ISO RGD:620023 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:20830301|REF_RGD_ID:5509587 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:1826 epilepsy ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18333967 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:2841 asthma ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP: :rs6962027 (human) PMID:19308904|REF_RGD_ID:5509586 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:303 substance-related disorder ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20393457 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:3312 bipolar disorder ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP: :rs324650 (human) PMID:20351719|REF_RGD_ID:5509579 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:3312 bipolar disorder ISO RGD:733234 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:19103464|REF_RGD_ID:5509584 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:5419 schizophrenia ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs324651) (human) PMID:20691427|REF_RGD_ID:5509574 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:630 genetic disease ISO RGD:733234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:9000998 Brain Injuries ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18603373 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:9007001 Bradycardia ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181912 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:9743 diabetic neuropathy ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20624991 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18603373 8972200 Chrm2 cholinergic receptor muscarinic 2 gene DOID:9976 heroin dependence ISO RGD:733234 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2350780 (human) PMID:19500151|REF_RGD_ID:5509583 8972209 Glipr1l1 GLIPR1 like 1 gene DOID:630 genetic disease ISO RGD:1605255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972223 Raet1e retinoic acid early transcript 1E gene DOID:630 genetic disease ISO RGD:1322405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972231 Nprl3 NPR3 like, GATOR1 complex subunit gene DOID:0081421 familial focal epilepsy with variable foci 1 ISO RGD:1606330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8972231 Nprl3 NPR3 like, GATOR1 complex subunit gene DOID:0081423 familial focal epilepsy with variable foci 3 ISO RGD:1606330 D RGD:7240710 20190315 OMIM 8972231 Nprl3 NPR3 like, GATOR1 complex subunit gene DOID:0081423 familial focal epilepsy with variable foci 3 ISO RGD:1606330 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 | ClinVar Annotator: match by term: NPRL3-related condition PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26285051|PMID:26505888|PMID:26786403|PMID:27173016|PMID:28492532|PMID:28726809|PMID:30093711|PMID:31440721|PMID:31594065|PMID:31639411|PMID:32086284|PMID:35136953|PMID:9536098 8972231 Nprl3 NPR3 like, GATOR1 complex subunit gene DOID:1059 intellectual disability ISO RGD:1606330 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532 8972231 Nprl3 NPR3 like, GATOR1 complex subunit gene DOID:1826 epilepsy ISO RGD:1606330 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Seizure PMID:16199547|PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532|PMID:31440721|PMID:32086284 8972231 Nprl3 NPR3 like, GATOR1 complex subunit gene DOID:2234 focal epilepsy ISO RGD:1606330 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Focal epilepsy PMID:25741868|PMID:28492532 8972231 Nprl3 NPR3 like, GATOR1 complex subunit gene DOID:630 genetic disease ISO RGD:1606330 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8972251 Akap6 A-kinase anchoring protein 6 gene DOID:0060224 atrial fibrillation ISO RGD:69458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8972251 Akap6 A-kinase anchoring protein 6 gene DOID:1059 intellectual disability ISO RGD:69458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8972251 Akap6 A-kinase anchoring protein 6 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1550845 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:14511675|REF_RGD_ID:14349026 8972251 Akap6 A-kinase anchoring protein 6 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1550845 D RGD:9068941 20200609 RGD PMID:24812305|REF_RGD_ID:11251930 8972251 Akap6 A-kinase anchoring protein 6 gene DOID:2152 ovary epithelial cancer susceptibility ISO RGD:69458 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1955513,rs927062(human) PMID:29979793|REF_RGD_ID:14348955 8972251 Akap6 A-kinase anchoring protein 6 gene DOID:6000 congestive heart failure ISO RGD:1550845 D RGD:9068941 20200609 RGD PMID:24812305|REF_RGD_ID:11251930 8972251 Akap6 A-kinase anchoring protein 6 gene DOID:630 genetic disease ISO RGD:69458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972251 Akap6 A-kinase anchoring protein 6 gene DOID:8689 anorexia nervosa susceptibility ISO RGD:69458 D RGD:9068941 20200609 RGD DNA:SNP: :rs2383378(human) PMID:21079607|REF_RGD_ID:14349024 8972251 Akap6 A-kinase anchoring protein 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:69458 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8972276 Htra1 HtrA serine peptidase 1 gene DOID:0050661 vitelliform macular dystrophy susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:22893068|REF_RGD_ID:7394745 8972276 Htra1 HtrA serine peptidase 1 gene DOID:0060863 patterned macular dystrophy susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:22893068|REF_RGD_ID:7394745 8972276 Htra1 HtrA serine peptidase 1 gene DOID:0080600 COVID-19 ISO RGD:732659 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8972276 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 ISO RGD:732659 D RGD:7240710 20180130 OMIM 8972276 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 ISO RGD:732659 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 7 | ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration PMID:17053108|PMID:17053109|PMID:17568988|PMID:18511946|PMID:19259132|PMID:30068478|PMID:31719132|PMID:34510819|PMID:34626176 8972276 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 severity ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human) PMID:19796758|REF_RGD_ID:7394719 8972276 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple (human) PMID:18207215|REF_RGD_ID:7394722 8972276 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human) PMID:19933195|REF_RGD_ID:7394713 8972276 Htra1 HtrA serine peptidase 1 gene DOID:0110019 age related macular degeneration 7 susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-497C>T (rs2672598) (human) PMID:18436811|REF_RGD_ID:7394721 8972276 Htra1 HtrA serine peptidase 1 gene DOID:0111036 CADASIL2 ISO RGD:732659 D RGD:7240710 20190315 OMIM 8972276 Htra1 HtrA serine peptidase 1 gene DOID:0111036 CADASIL2 ISO RGD:732659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | ClinVar Annotator: match by term: HTRA1-related autosomal dominant cerebral small vessel disease PMID:19387015|PMID:25712943|PMID:25741868|PMID:26063658|PMID:26467025|PMID:27164673|PMID:28402226|PMID:28492532|PMID:29561953|PMID:29895533|PMID:30447605|PMID:30981321|PMID:31316458|PMID:32101834|PMID:32581362|PMID:34220097 8972276 Htra1 HtrA serine peptidase 1 gene DOID:10534 stomach cancer ISO RGD:732659 D RGD:9068941 20220609 RGD protein:decreased expression:stomach (human) PMID:25761858|REF_RGD_ID:11058317 8972276 Htra1 HtrA serine peptidase 1 gene DOID:10534 stomach cancer treatment ISO RGD:732659 D RGD:9068941 20220609 RGD PMID:21447133|REF_RGD_ID:152977763 8972276 Htra1 HtrA serine peptidase 1 gene DOID:10763 hypertension ISO RGD:732659 D RGD:9068941 20200609 RGD associated with Macular Degeneration; DNA:snp:cds:g.102C>T (rs1049331) (human) PMID:21682878|REF_RGD_ID:7394697 8972276 Htra1 HtrA serine peptidase 1 gene DOID:10871 age related macular degeneration susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-1894G>A (rs3793917) (human) PMID:22618592|REF_RGD_ID:7394695 8972276 Htra1 HtrA serine peptidase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human) PMID:18164066|REF_RGD_ID:7394724 8972276 Htra1 HtrA serine peptidase 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:22800422|REF_RGD_ID:7387322 8972276 Htra1 HtrA serine peptidase 1 gene DOID:1107 esophageal carcinoma disease_progression ISO RGD:732659 D RGD:9068941 20220609 RGD mRNA,protein:decreased expression:esophagus (human) PMID:22935172|REF_RGD_ID:152985525 8972276 Htra1 HtrA serine peptidase 1 gene DOID:13945 CADASIL ISO RGD:732659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8972276 Htra1 HtrA serine peptidase 1 gene DOID:1790 malignant mesothelioma disease_progression ISO RGD:732659 D RGD:9068941 20220527 RGD protein:increased expression:mesothelium (human) PMID:18681782|REF_RGD_ID:152975625 8972276 Htra1 HtrA serine peptidase 1 gene DOID:1826 epilepsy ISO RGD:732659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:19387015|PMID:25741868|PMID:26063658|PMID:28492532|PMID:29895533|PMID:32101834|PMID:32581362 8972276 Htra1 HtrA serine peptidase 1 gene DOID:2152 ovary epithelial cancer treatment ISO RGD:732659 D RGD:9068941 20220603 RGD PMID:16767218|REF_RGD_ID:152977756 8972276 Htra1 HtrA serine peptidase 1 gene DOID:219 colon cancer disease_progression ISO RGD:732659 D RGD:9068941 20220609 RGD DNA:SNP:cds: (rs1049331) (human) PMID:32218415|REF_RGD_ID:152985527 8972276 Htra1 HtrA serine peptidase 1 gene DOID:2340 craniosynostosis ISO RGD:732659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 8972276 Htra1 HtrA serine peptidase 1 gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:732659 D RGD:9068941 20220603 RGD human gene and cells in mouse model PMID:23079781|REF_RGD_ID:152975633 8972276 Htra1 HtrA serine peptidase 1 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:732659 D RGD:9068941 20220603 RGD mRNA,protein:decreased expression:epithelium of esophagus (human) PMID:23079781|REF_RGD_ID:152975633 8972276 Htra1 HtrA serine peptidase 1 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:732659 D RGD:9068941 20220527 RGD protein:decreased expression:lung (human) PMID:32878625|REF_RGD_ID:152975629 8972276 Htra1 HtrA serine peptidase 1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:732659 D RGD:9068941 20220526 RGD human cells in mouse model PMID:24356998|REF_RGD_ID:152975621 8972276 Htra1 HtrA serine peptidase 1 gene DOID:4448 macular degeneration ISO RGD:732659 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18164066|PMID:18316707|PMID:20437615|PMID:25741868|PMID:26467025|PMID:27338780|PMID:28492532|PMID:28782182|PMID:32017060 8972276 Htra1 HtrA serine peptidase 1 gene DOID:630 genetic disease ISO RGD:732659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8972276 Htra1 HtrA serine peptidase 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732659 D RGD:9068941 20220609 RGD mRNA:decreased expression:liver (human) PMID:26403966|REF_RGD_ID:152985529 8972276 Htra1 HtrA serine peptidase 1 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732659 D RGD:9068941 20220609 RGD protein:decreased expression:liver (human) PMID:20943460|REF_RGD_ID:152985524 8972276 Htra1 HtrA serine peptidase 1 gene DOID:8577 ulcerative colitis ISO RGD:732659 D RGD:9068941 20220609 RGD protein:decreased expression:colonic epithelium,colonic mucosa (human) PMID:28586045|REF_RGD_ID:152985530 8972276 Htra1 HtrA serine peptidase 1 gene DOID:8725 vascular dementia ISO RGD:732659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:24500651|PMID:25741868|PMID:33268848|PMID:35307828 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:18682806|REF_RGD_ID:7394694 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:732659 D RGD:9068941 20200609 RGD human gene in mouse model PMID:21844367|REF_RGD_ID:7394749 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9001044 Choroidal Neovascularization no_association ISO RGD:732659 D RGD:9068941 20200609 RGD associated with Myopia; DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:19680273|REF_RGD_ID:7394720 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9001147 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ISO RGD:732659 D RGD:7240710 20180130 OMIM 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9001147 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ISO RGD:732659 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease PMID:11889251|PMID:18316707|PMID:19387015|PMID:20437615|PMID:21115960|PMID:21482952|PMID:22900900|PMID:23963851|PMID:24500651|PMID:24535794|PMID:25506911|PMID:25741868|PMID:25770224|PMID:25772074|PMID:25957642|PMID:26063658|PMID:26467025|PMID:27164673|PMID:27353043|PMID:28492532|PMID:28782182|PMID:29561953|PMID:29895533|PMID:30859180|PMID:31316458|PMID:32101834|PMID:32581362|PMID:33268848|PMID:34220097|PMID:36047879|PMID:36253578|PMID:36261288|PMID:36380532 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9001427 Geographic Atrophy ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:17426452|REF_RGD_ID:7394693 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9002775 Cognitive Dysfunction ISO RGD:732659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cognitive impairment PMID:19387015|PMID:25741868|PMID:26063658|PMID:28492532|PMID:29895533|PMID:32101834|PMID:32581362 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9008537 Polypoidal Choroidal Vasculopathy ISO RGD:732659 D RGD:9068941 20200609 RGD human gene in mouse model PMID:21844367|REF_RGD_ID:7394749 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:732659 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-625G>A (rs11200638) (human) PMID:23326481|REF_RGD_ID:7394751 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9256 colorectal cancer ISO RGD:732659 D RGD:9068941 20220609 RGD protein:decreased expression:colonic epithelium,colonic mucosa (human) PMID:28586045|REF_RGD_ID:152985530 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732659 D RGD:9068941 20220609 RGD mRNA, protein:increased expression,decreased expression:colorectal mucosa (human) PMID:32486357|REF_RGD_ID:152977762 8972276 Htra1 HtrA serine peptidase 1 gene DOID:9351 diabetes mellitus ISO RGD:732659 D RGD:9068941 20220527 RGD associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human) PMID:27411924|REF_RGD_ID:152975631 8972312 Nufip1 nuclear FMR1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1347229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972327 Rcc1l RCC1 like gene DOID:1928 Williams-Beuren syndrome ISO RGD:1316823 D RGD:9068941 20200609 RGD PMID:12073013|REF_RGD_ID:1580600 8972327 Rcc1l RCC1 like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1316823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8972327 Rcc1l RCC1 like gene DOID:630 genetic disease ISO RGD:1316823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972327 Rcc1l RCC1 like gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1316823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8972342 Kmt2c lysine methyltransferase 2C gene DOID:0060041 autism spectrum disorder ISO RGD:1347083 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism, susceptiblity to PMID:25741868|PMID:30826922|PMID:32807182|PMID:33662367 8972342 Kmt2c lysine methyltransferase 2C gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868 8972342 Kmt2c lysine methyltransferase 2C gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8972342 Kmt2c lysine methyltransferase 2C gene DOID:0080202 adenoid cystic carcinoma disease_progression ISO RGD:1347083 D RGD:9068941 20211224 RGD PMID:31483290|REF_RGD_ID:150429736 8972342 Kmt2c lysine methyltransferase 2C gene DOID:0080471 developmental and epileptic encephalopathy 92 ISO RGD:1347083 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 2 PMID:25741868 8972342 Kmt2c lysine methyltransferase 2C gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1347083 D RGD:7240710 20190315 OMIM 8972342 Kmt2c lysine methyltransferase 2C gene DOID:0080598 Kleefstra syndrome 2 ISO RGD:1347083 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: KMT2C-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 2 | ClinVar Annotator: match by term: Kleefstra syndrome due to a point mutation PMID:22726846|PMID:22832583|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:29069077|PMID:29276005|PMID:29926297|PMID:30352910|PMID:30981987|PMID:33619735|PMID:36672956 8972342 Kmt2c lysine methyltransferase 2C gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 8972342 Kmt2c lysine methyltransferase 2C gene DOID:10283 prostate cancer ISO RGD:1347083 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 8972342 Kmt2c lysine methyltransferase 2C gene DOID:10534 stomach cancer ISO RGD:1347083 D RGD:9068941 20211224 RGD DNA:SNPs, haplotypes: rs6943984, rs4725443 (human) PMID:23991983|REF_RGD_ID:150537042 8972342 Kmt2c lysine methyltransferase 2C gene DOID:10534 stomach cancer ISO RGD:1347083 D RGD:9068941 20211224 RGD DNA:missense mutation:CDS:S3660L (human) PMID:24965397|REF_RGD_ID:150537043 8972342 Kmt2c lysine methyltransferase 2C gene DOID:1059 intellectual disability ISO RGD:1347083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24033266|PMID:24728327|PMID:25326635|PMID:25741868|PMID:28492532 8972342 Kmt2c lysine methyltransferase 2C gene DOID:10907 microcephaly ISO RGD:1347083 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8972342 Kmt2c lysine methyltransferase 2C gene DOID:11054 urinary bladder cancer ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 8972342 Kmt2c lysine methyltransferase 2C gene DOID:11372 megacolon ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8972342 Kmt2c lysine methyltransferase 2C gene DOID:12849 autistic disorder ISO RGD:1347083 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868 8972342 Kmt2c lysine methyltransferase 2C gene DOID:1749 squamous cell carcinoma severity ISO RGD:1347083 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25303977|REF_RGD_ID:9588232 8972342 Kmt2c lysine methyltransferase 2C gene DOID:2600 laryngeal carcinoma ISO RGD:1347083 D RGD:9068941 20220217 RGD mRNA:decreased expression:larynx PMID:25633166|REF_RGD_ID:151356763 8972342 Kmt2c lysine methyltransferase 2C gene DOID:2671 transitional cell carcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 8972342 Kmt2c lysine methyltransferase 2C gene DOID:2843 long QT syndrome ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8972342 Kmt2c lysine methyltransferase 2C gene DOID:299 adenocarcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 8972342 Kmt2c lysine methyltransferase 2C gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 8972342 Kmt2c lysine methyltransferase 2C gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347083 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:25151357|REF_RGD_ID:9588233 8972342 Kmt2c lysine methyltransferase 2C gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1347083 D RGD:9068941 20220217 RGD PMID:33665490|REF_RGD_ID:150523771 8972342 Kmt2c lysine methyltransferase 2C gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1347083 D RGD:9068941 20220217 RGD PMID:32867667|REF_RGD_ID:151356760 8972342 Kmt2c lysine methyltransferase 2C gene DOID:3910 lung adenocarcinoma onset ISO RGD:1347083 D RGD:9068941 20220217 RGD PMID:30821106|REF_RGD_ID:151356761 8972342 Kmt2c lysine methyltransferase 2C gene DOID:4927 Klatskin's tumor onset ISO RGD:1347083 D RGD:9068941 20210430 RGD DNA:mutations PMID:33387086|REF_RGD_ID:126848756 8972342 Kmt2c lysine methyltransferase 2C gene DOID:4947 cholangiocarcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 8972342 Kmt2c lysine methyltransferase 2C gene DOID:5517 stomach carcinoma severity ISO RGD:1347083 D RGD:9068941 20200609 RGD protein:decreased expression:stomach (human) PMID:25222251|REF_RGD_ID:9588234 8972342 Kmt2c lysine methyltransferase 2C gene DOID:630 genetic disease ISO RGD:1347083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532 8972342 Kmt2c lysine methyltransferase 2C gene DOID:684 hepatocellular carcinoma ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634756 8972342 Kmt2c lysine methyltransferase 2C gene DOID:7148 rheumatoid arthritis treatment ISO RGD:1587205 D RGD:9068941 20220217 RGD PMID:33914205|REF_RGD_ID:151356764 8972342 Kmt2c lysine methyltransferase 2C gene DOID:8541 Sezary's disease ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8972342 Kmt2c lysine methyltransferase 2C gene DOID:9000217 Stomach Neoplasms ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 8972342 Kmt2c lysine methyltransferase 2C gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8972342 Kmt2c lysine methyltransferase 2C gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 8972342 Kmt2c lysine methyltransferase 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8972342 Kmt2c lysine methyltransferase 2C gene DOID:9008086 Developmental Disabilities ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22832583|PMID:25741868|PMID:29926297|PMID:30352910|PMID:30981987 8972342 Kmt2c lysine methyltransferase 2C gene DOID:9119 acute myeloid leukemia ISO RGD:1347083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24794707 8972342 Kmt2c lysine methyltransferase 2C gene DOID:9261 nasopharynx carcinoma ISO RGD:1347083 D RGD:9068941 20220217 RGD PMID:31646828|REF_RGD_ID:151356762 8972342 Kmt2c lysine methyltransferase 2C gene DOID:9538 multiple myeloma ISO RGD:1347083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8972409 Clasp1 cytoplasmic linker associated protein 1 gene DOID:0050700 cardiomyopathy ISO RGD:1322173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:32628740 8972409 Clasp1 cytoplasmic linker associated protein 1 gene DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I ISO RGD:1322173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Low-birth-weight dwarfism with skeletal dysplasia | ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 PMID:10189087|PMID:12409455|PMID:12605445|PMID:21474760|PMID:21474761|PMID:21977988|PMID:21990275|PMID:22581640|PMID:23794361|PMID:24865609|PMID:25741868|PMID:25741869|PMID:26419500|PMID:26522830|PMID:26641461|PMID:27040866|PMID:28492532|PMID:28623346|PMID:28669401|PMID:29165669|PMID:29263834|PMID:29265708|PMID:29391254|PMID:30214071|PMID:30368667|PMID:30455926|PMID:32109076|PMID:32581362|PMID:32595695|PMID:32628740|PMID:33059947 8972409 Clasp1 cytoplasmic linker associated protein 1 gene DOID:10907 microcephaly ISO RGD:1322173 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:32628740 8972409 Clasp1 cytoplasmic linker associated protein 1 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:1322173 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:30368667|PMID:32628740 8972409 Clasp1 cytoplasmic linker associated protein 1 gene DOID:2340 craniosynostosis ISO RGD:1322173 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:32628740 8972409 Clasp1 cytoplasmic linker associated protein 1 gene DOID:630 genetic disease ISO RGD:1322173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972409 Clasp1 cytoplasmic linker associated protein 1 gene DOID:9000632 Lowry Wood Syndrome ISO RGD:1322173 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, microcephaly and nystagmus | ClinVar Annotator: match by term: Lowry-Wood syndrome PMID:10189087|PMID:12605445|PMID:19288552|PMID:21474760|PMID:21474761|PMID:21977988|PMID:24865609|PMID:25735804|PMID:25741868|PMID:26522830|PMID:28492532|PMID:28623346|PMID:28669401|PMID:29165669|PMID:29265708|PMID:29391254|PMID:30368667|PMID:30455926|PMID:32109076|PMID:32581362|PMID:32628740 8972409 Clasp1 cytoplasmic linker associated protein 1 gene DOID:9002458 Roifman Syndrome ISO RGD:1322173 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Roifman syndrome PMID:10189087|PMID:21474760|PMID:21474761|PMID:21977988|PMID:22581640|PMID:24865609|PMID:25735804|PMID:25741868|PMID:26522830|PMID:27040866|PMID:28492532|PMID:28623346|PMID:28669401|PMID:29165669|PMID:29263834|PMID:29265708|PMID:29391254|PMID:30368667|PMID:30455926|PMID:32109076|PMID:32581362|PMID:32595695|PMID:32628740|PMID:33059947 8972409 Clasp1 cytoplasmic linker associated protein 1 gene DOID:9007073 Cough susceptibility ISO RGD:1322173 D RGD:9068941 20200609 RGD associated with Drug-Related Side Effects and Adverse Reactions; DNA:SNPs:multiple: PMID:28084903|REF_RGD_ID:27226683 8972409 Clasp1 cytoplasmic linker associated protein 1 gene DOID:9007661 Dwarfism ISO RGD:1322173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:12409455|PMID:21474760|PMID:21990275|PMID:22581640|PMID:23794361|PMID:25741868|PMID:26419500|PMID:26522830|PMID:27040866|PMID:28492532|PMID:28669401|PMID:29263834|PMID:29391254|PMID:30214071|PMID:30368667|PMID:32581362|PMID:32595695|PMID:32628740 8972409 Clasp1 cytoplasmic linker associated protein 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1322173 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:26522830|PMID:28492532|PMID:28669401|PMID:32628740 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:20560207|PMID:21311022|PMID:22203740|PMID:24574546|PMID:25417227|PMID:25741868|PMID:28492532|PMID:30764634|PMID:31521807 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0060224 atrial fibrillation ISO RGD:1349904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0060224 atrial fibrillation ISO RGD:1349904 D RGD:9068941 20200609 RGD PMID:11693772|REF_RGD_ID:1581701 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0110644 long QT syndrome 1 ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:25741868|PMID:28492532 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0110654 long QT syndrome 13 ISO RGD:1349904 D RGD:7240710 20180130 OMIM 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0110654 long QT syndrome 13 ISO RGD:1349904 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome 13 PMID:20560207|PMID:24574546|PMID:25417227|PMID:25741868|PMID:26350513|PMID:28492532|PMID:29016797|PMID:29396561|PMID:29467578|PMID:29726953|PMID:30764634|PMID:30847666|PMID:31521807|PMID:31847883|PMID:34426522 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:13884 sick sinus syndrome ISO RGD:1349904 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26831068 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:2843 long QT syndrome ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:17967416|PMID:20560207|PMID:22203740|PMID:22308486|PMID:24420545|PMID:24574546|PMID:24819081|PMID:25741868|PMID:26350513|PMID:28492532|PMID:29467578|PMID:31388123 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:2843 long QT syndrome ISO RGD:1349904 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11278615|PMID:17576681|PMID:17967416|PMID:20560207|PMID:21311022|PMID:22203740|PMID:22308486|PMID:22315453|PMID:22645387|PMID:24123366|PMID:24420545|PMID:24574546|PMID:24819081|PMID:25347571|PMID:25417227|PMID:25741868|PMID:26350513|PMID:27099398|PMID:27707468|PMID:28032242|PMID:28492532|PMID:28986455|PMID:29016797|PMID:29396561|PMID:29467578|PMID:29726953|PMID:30086531|PMID:30764634|PMID:30847666|PMID:30975432|PMID:31388123|PMID:31521807|PMID:31847883|PMID:34426522|PMID:34846128|PMID:34957562|PMID:9536098 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:5419 schizophrenia ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:630 genetic disease ISO RGD:1349904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:657 adenoma ISO RGD:1349904 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913001|PMID:23913004 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9000644 Familial Hyperaldosteronism, Type III ISO RGD:1349904 D RGD:7240710 20180130 OMIM 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9000644 Familial Hyperaldosteronism, Type III ISO RGD:1349904 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism type 3 | ClinVar Annotator: match by term: Familial hyperaldosteronism type III PMID:20560207|PMID:21311022|PMID:22203740|PMID:22252394|PMID:22308486|PMID:22628607|PMID:23829355|PMID:24037882|PMID:24420545|PMID:24506072|PMID:24574546|PMID:24819081|PMID:25057880|PMID:25741868|PMID:26350513|PMID:28447626|PMID:28492532|PMID:29016797|PMID:29396561|PMID:29726953|PMID:30847666|PMID:34426522 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9000644 Familial Hyperaldosteronism, Type III ISO RGD:1349904 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism type 3 | ClinVar Annotator: match by term: Familial hyperaldosteronism type III PMID:20560207|PMID:21311022|PMID:22203740|PMID:22252394|PMID:22308486|PMID:22628607|PMID:23829355|PMID:24037882|PMID:24420545|PMID:24506072|PMID:24574546|PMID:24819081|PMID:25057880|PMID:25417227|PMID:25741868|PMID:26350513|PMID:28447626|PMID:28492532|PMID:29016797|PMID:29396561|PMID:29726953|PMID:30764634|PMID:30847666|PMID:31521807|PMID:34426522 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9003163 Heart Block ISO RGD:1349904 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26831068 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9004228 Familial Hyperaldosteronism ISO RGD:1349904 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hyperaldosteronism PMID:25741868|PMID:28492532 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:25741868|PMID:28492532 8972470 Kcnj5 potassium inwardly rectifying channel subfamily J member 5 gene DOID:9007661 Dwarfism ISO RGD:1349904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8972481 Uvssa UV stimulated scaffold protein A gene DOID:0060240 UV-sensitive syndrome ISO RGD:1605974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22466610|PMID:22466612 8972481 Uvssa UV stimulated scaffold protein A gene DOID:1856 cherubism ISO RGD:1605974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8972481 Uvssa UV stimulated scaffold protein A gene DOID:630 genetic disease ISO RGD:1605974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972481 Uvssa UV stimulated scaffold protein A gene DOID:9006357 UV-Sensitive Syndrome 3 ISO RGD:1605974 D RGD:7240710 20180130 OMIM 8972481 Uvssa UV stimulated scaffold protein A gene DOID:9006357 UV-Sensitive Syndrome 3 ISO RGD:1605974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 3 PMID:10771487|PMID:19329487|PMID:22466610|PMID:22466612|PMID:25741868|PMID:3774595|PMID:3974603|PMID:7513056 8972506 Phactr4 phosphatase and actin regulator 4 gene DOID:0080600 COVID-19 ISO RGD:1351091 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8972506 Phactr4 phosphatase and actin regulator 4 gene DOID:630 genetic disease ISO RGD:1351091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972534 Cdkn2aipnl CDKN2A interacting protein N-terminal like gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602992 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8972534 Cdkn2aipnl CDKN2A interacting protein N-terminal like gene DOID:630 genetic disease ISO RGD:1602992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972534 Cdkn2aipnl CDKN2A interacting protein N-terminal like gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8972534 Cdkn2aipnl CDKN2A interacting protein N-terminal like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8972534 Cdkn2aipnl CDKN2A interacting protein N-terminal like gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602992 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8972546 Ap2b1 adaptor related protein complex 2 subunit beta 1 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:734047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 8972546 Ap2b1 adaptor related protein complex 2 subunit beta 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:71048 D RGD:9068941 20200609 RGD protein:increased degradation:brain PMID:19240038|REF_RGD_ID:13461853 8972546 Ap2b1 adaptor related protein complex 2 subunit beta 1 gene DOID:630 genetic disease ISO RGD:734047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972586 Fam120b family with sequence similarity 120 member B gene DOID:13938 amenorrhea ISO RGD:1321130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8972586 Fam120b family with sequence similarity 120 member B gene DOID:630 genetic disease ISO RGD:1321130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972612 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1353089 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:11125141|PMID:11333381|PMID:11567215|PMID:12955717|PMID:15465422|PMID:15937921|PMID:16126423|PMID:16757520|PMID:17470133|PMID:18772377|PMID:19252935|PMID:20301473|PMID:21084287|PMID:22073306|PMID:22676771|PMID:23352160|PMID:23433426|PMID:23773996|PMID:23791309|PMID:24386122|PMID:24767253|PMID:24915861|PMID:25038260|PMID:25145893|PMID:25236789|PMID:25741868|PMID:25764212|PMID:25772320|PMID:26666848|PMID:26981555|PMID:27792009|PMID:28095804|PMID:28492532|PMID:28808920|PMID:29431110|PMID:29928259|PMID:30060175|PMID:30548430|PMID:32138288|PMID:33848968|PMID:34420959|PMID:36140389|PMID:36199823 8972612 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1353089 D RGD:7240710 20180130 OMIM 8972612 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:0070114 Niemann-Pick disease type C2 ISO RGD:1353089 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:11125141|PMID:11333381|PMID:11567215|PMID:12447927|PMID:12955717|PMID:15465422|PMID:15937921|PMID:16126423|PMID:16167124|PMID:16199547|PMID:16757520|PMID:17470133|PMID:17576681|PMID:18081003|PMID:18772377|PMID:19252935|PMID:20301473|PMID:21084287|PMID:22073306|PMID:22676771|PMID:23352160|PMID:23433426|PMID:23773996|PMID:23791309|PMID:24082139|PMID:24386122|PMID:24767253|PMID:24915861|PMID:25038260|PMID:25145893|PMID:25236789|PMID:25326635|PMID:25558065|PMID:25741868|PMID:25764212|PMID:25772320|PMID:26206375|PMID:26338816|PMID:26666848|PMID:26981555|PMID:27271431|PMID:27792009|PMID:28095804|PMID:28105569|PMID:28492532|PMID:28808920|PMID:29431110|PMID:29928259|PMID:30060175|PMID:30548430|PMID:32138288|PMID:33848968|PMID:34420959|PMID:36140389|PMID:36199823|PMID:9536098 8972612 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:1059 intellectual disability ISO RGD:1353089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8972612 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:14504 Niemann-Pick disease ISO RGD:1353089 D RGD:9068941 20200609 RGD DNA:mutation:multiple PMID:11567215|REF_RGD_ID:1601483 8972612 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:14504 Niemann-Pick disease ISO RGD:1553506 D RGD:9068941 20220825 MouseDO 8972612 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:630 genetic disease ISO RGD:1353089 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15937921|PMID:20301473|PMID:24386122|PMID:25145893|PMID:25741868|PMID:25764212|PMID:26338816|PMID:28095804|PMID:28492532 8972612 Npc2 NPC intracellular cholesterol transporter 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1353089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12955717|PMID:15937921|PMID:25558065|PMID:25741868|PMID:25764212|PMID:28492532 8972628 Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 gene DOID:630 genetic disease ISO RGD:1319889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972628 Entpd4 ectonucleoside triphosphate diphosphohydrolase 4 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1319889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 8972647 Sctr secretin receptor gene DOID:630 genetic disease ISO RGD:736213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972647 Sctr secretin receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:736213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 8972678 LOC102021000 olfactory receptor 51G1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345426 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8972678 LOC102021000 olfactory receptor 51G1 gene DOID:630 genetic disease ISO RGD:1345426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972683 Elac1 elaC ribonuclease Z 1 gene DOID:1059 intellectual disability ISO RGD:1312386 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8972683 Elac1 elaC ribonuclease Z 1 gene DOID:630 genetic disease ISO RGD:1312386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972701 Barhl1 BarH like homeobox 1 gene DOID:0060081 triple-receptor negative breast cancer ISO RGD:733588 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:28956815|REF_RGD_ID:14390165 8972701 Barhl1 BarH like homeobox 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8972701 Barhl1 BarH like homeobox 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733588 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8972701 Barhl1 BarH like homeobox 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8972701 Barhl1 BarH like homeobox 1 gene DOID:0081097 Rafiq syndrome ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8972701 Barhl1 BarH like homeobox 1 gene DOID:10652 Alzheimer's disease ISO RGD:733588 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:28956815|REF_RGD_ID:14390165 8972701 Barhl1 BarH like homeobox 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8972701 Barhl1 BarH like homeobox 1 gene DOID:3070 high grade glioma ISO RGD:733588 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:28956815|REF_RGD_ID:14390165 8972701 Barhl1 BarH like homeobox 1 gene DOID:3652 Leigh disease ISO RGD:733588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8972701 Barhl1 BarH like homeobox 1 gene DOID:630 genetic disease ISO RGD:733588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972701 Barhl1 BarH like homeobox 1 gene DOID:9004538 Hearing Loss ISO RGD:733589 D RGD:9068941 20200609 RGD PMID:12091321|REF_RGD_ID:14390166 8972709 Slit1 slit guidance ligand 1 gene DOID:630 genetic disease ISO RGD:733848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972709 Slit1 slit guidance ligand 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736743 D RGD:9068941 20200609 RGD PMID:16262652|REF_RGD_ID:2316136 8972709 Slit1 slit guidance ligand 1 gene DOID:9000998 Brain Injuries ISO RGD:69307 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 8972709 Slit1 slit guidance ligand 1 gene DOID:9007330 Monomelic Amyotrophy ISO RGD:733848 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Monomelic amyotrophy 8972759 Fbxw8 F-box and WD repeat domain containing 8 gene DOID:11054 urinary bladder cancer ISO RGD:1314415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8972759 Fbxw8 F-box and WD repeat domain containing 8 gene DOID:630 genetic disease ISO RGD:1314415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972781 Gtf3c6 general transcription factor IIIC subunit 6 gene DOID:630 genetic disease ISO RGD:1316627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972790 Opcml opioid binding protein/cell adhesion molecule like gene DOID:0111723 Jacobsen Syndrome ISO RGD:731778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8972790 Opcml opioid binding protein/cell adhesion molecule like gene DOID:2394 ovarian cancer ISO RGD:731778 D RGD:7240710 20190213 OMIM 8972790 Opcml opioid binding protein/cell adhesion molecule like gene DOID:5419 schizophrenia ISO RGD:731778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8972790 Opcml opioid binding protein/cell adhesion molecule like gene DOID:630 genetic disease ISO RGD:731778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972790 Opcml opioid binding protein/cell adhesion molecule like gene DOID:9002762 Ovarian Neoplasms ISO RGD:731778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:12819783 8972790 Opcml opioid binding protein/cell adhesion molecule like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:731778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8972837 Ndst3 N-deacetylase and N-sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1322156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972837 Ndst3 N-deacetylase and N-sulfotransferase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8972862 Slc35e1 solute carrier family 35 member E1 gene DOID:630 genetic disease ISO RGD:1319908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972871 Polr1f RNA polymerase I subunit F gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8972871 Polr1f RNA polymerase I subunit F gene DOID:630 genetic disease ISO RGD:1317243 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972884 Rps15 ribosomal protein S15 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:736357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 8972884 Rps15 ribosomal protein S15 gene DOID:3892 insulinoma ISO RGD:62026 D RGD:9068941 20200609 RGD PMID:3019805|REF_RGD_ID:61740 8972884 Rps15 ribosomal protein S15 gene DOID:5339 cyclic hematopoiesis ISO RGD:736357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8972884 Rps15 ribosomal protein S15 gene DOID:630 genetic disease ISO RGD:736357 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972884 Rps15 ribosomal protein S15 gene DOID:9000217 Stomach Neoplasms ISO RGD:736357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8972884 Rps15 ribosomal protein S15 gene DOID:9000918 Disease Progression ISO RGD:736357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8972884 Rps15 ribosomal protein S15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8972892 Prxl2b peroxiredoxin like 2B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8972892 Prxl2b peroxiredoxin like 2B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8972892 Prxl2b peroxiredoxin like 2B gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8972892 Prxl2b peroxiredoxin like 2B gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8972892 Prxl2b peroxiredoxin like 2B gene DOID:0110994 Joubert syndrome 25 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8972892 Prxl2b peroxiredoxin like 2B gene DOID:0111934 immunodeficiency 38 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8972892 Prxl2b peroxiredoxin like 2B gene DOID:0111935 immunodeficiency 16 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8972892 Prxl2b peroxiredoxin like 2B gene DOID:10316 pneumoconiosis ISO RGD:1603910 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 8972892 Prxl2b peroxiredoxin like 2B gene DOID:630 genetic disease ISO RGD:1603910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972892 Prxl2b peroxiredoxin like 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8972892 Prxl2b peroxiredoxin like 2B gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1603910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8972892 Prxl2b peroxiredoxin like 2B gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1603910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8972903 Ttbk1 tau tubulin kinase 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1350960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8972903 Ttbk1 tau tubulin kinase 1 gene DOID:12849 autistic disorder ISO RGD:1350960 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8972903 Ttbk1 tau tubulin kinase 1 gene DOID:630 genetic disease ISO RGD:1350960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972903 Ttbk1 tau tubulin kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8972903 Ttbk1 tau tubulin kinase 1 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1350960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 8972903 Ttbk1 tau tubulin kinase 1 gene DOID:905 Zellweger syndrome ISO RGD:1350960 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8972932 Brix1 biogenesis of ribosomes BRX1 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:1605358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 8972932 Brix1 biogenesis of ribosomes BRX1 gene DOID:630 genetic disease ISO RGD:1605358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972932 Brix1 biogenesis of ribosomes BRX1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8972946 Fndc4 fibronectin type III domain containing 4 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:1345842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:28492532 8972946 Fndc4 fibronectin type III domain containing 4 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1345842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8972946 Fndc4 fibronectin type III domain containing 4 gene DOID:630 genetic disease ISO RGD:1345842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972946 Fndc4 fibronectin type III domain containing 4 gene DOID:9455 lipid storage disease ISO RGD:1345842 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 8972957 S1pr5 sphingosine-1-phosphate receptor 5 gene DOID:0080600 COVID-19 ISO RGD:733271 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8972957 S1pr5 sphingosine-1-phosphate receptor 5 gene DOID:418 systemic scleroderma ISO RGD:733271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29033951 8972957 S1pr5 sphingosine-1-phosphate receptor 5 gene DOID:630 genetic disease ISO RGD:733271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972957 S1pr5 sphingosine-1-phosphate receptor 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22406263 8972964 Oas3 2'-5'-oligoadenylate synthetase 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1347854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8972964 Oas3 2'-5'-oligoadenylate synthetase 3 gene DOID:630 genetic disease ISO RGD:1347854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972964 Oas3 2'-5'-oligoadenylate synthetase 3 gene DOID:9001488 Human Influenza ISO RGD:1347854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8972985 Art1 ADP-ribosyltransferase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8972985 Art1 ADP-ribosyltransferase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1312119 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8972985 Art1 ADP-ribosyltransferase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8972985 Art1 ADP-ribosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1312119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8972996 Bsn bassoon presynaptic cytomatrix protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8972996 Bsn bassoon presynaptic cytomatrix protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8972996 Bsn bassoon presynaptic cytomatrix protein gene DOID:114 heart disease ISO RGD:735544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 8972996 Bsn bassoon presynaptic cytomatrix protein gene DOID:1826 epilepsy ISO RGD:735544 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8972996 Bsn bassoon presynaptic cytomatrix protein gene DOID:630 genetic disease ISO RGD:735544 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8972996 Bsn bassoon presynaptic cytomatrix protein gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8973023 Trmt61a tRNA methyltransferase 61A gene DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 ISO RGD:1343016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 PMID:25175347|PMID:25741868|PMID:29577824 8973023 Trmt61a tRNA methyltransferase 61A gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1343016 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8973023 Trmt61a tRNA methyltransferase 61A gene DOID:630 genetic disease ISO RGD:1343016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973032 Psmg2 proteasome assembly chaperone 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1312554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8973032 Psmg2 proteasome assembly chaperone 2 gene DOID:0060915 proteosome-associated autoinflammatory syndrome 4 ISO RGD:1312554 D RGD:7240710 20210303 OMIM 8973032 Psmg2 proteasome assembly chaperone 2 gene DOID:0060915 proteosome-associated autoinflammatory syndrome 4 ISO RGD:1312554 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4 PMID:16199547|PMID:25741868|PMID:28492532|PMID:30664889 8973032 Psmg2 proteasome assembly chaperone 2 gene DOID:1059 intellectual disability ISO RGD:1312554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8973032 Psmg2 proteasome assembly chaperone 2 gene DOID:543 dystonia ISO RGD:1312554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8973032 Psmg2 proteasome assembly chaperone 2 gene DOID:630 genetic disease ISO RGD:1312554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8973032 Psmg2 proteasome assembly chaperone 2 gene DOID:9007661 Dwarfism ISO RGD:1312554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8973043 Topaz1 testis and ovary specific TOPAZ 1 gene DOID:630 genetic disease ISO RGD:2311615 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8973069 Adarb2 adenosine deaminase RNA specific B2 (inactive) gene DOID:13938 amenorrhea ISO RGD:736199 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8973069 Adarb2 adenosine deaminase RNA specific B2 (inactive) gene DOID:14330 Parkinson's disease ISO RGD:736199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 8973069 Adarb2 adenosine deaminase RNA specific B2 (inactive) gene DOID:303 substance-related disorder ISO RGD:736199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8973069 Adarb2 adenosine deaminase RNA specific B2 (inactive) gene DOID:630 genetic disease ISO RGD:736199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973102 Ucp1 uncoupling protein 1 gene DOID:10652 Alzheimer's disease ISO RGD:735821 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:24498895|REF_RGD_ID:10045648 8973102 Ucp1 uncoupling protein 1 gene DOID:10763 hypertension ISO RGD:735821 D RGD:9068941 20200609 RGD DNA:polymorphism: :-3826A>G (human) PMID:17635070|REF_RGD_ID:2313626 8973102 Ucp1 uncoupling protein 1 gene DOID:11716 prediabetes syndrome ISO RGD:3931 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brown fat PMID:12659879|REF_RGD_ID:2313629 8973102 Ucp1 uncoupling protein 1 gene DOID:12858 Huntington's disease ISO RGD:735822 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brown adipose tissue (mouse) PMID:17055784|REF_RGD_ID:10045650 8973102 Ucp1 uncoupling protein 1 gene DOID:12858 Huntington's disease treatment ISO RGD:735822 D RGD:9068941 20200609 RGD PMID:20561979|REF_RGD_ID:10045649 8973102 Ucp1 uncoupling protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8973102 Ucp1 uncoupling protein 1 gene DOID:6000 congestive heart failure ISO RGD:735821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 8973102 Ucp1 uncoupling protein 1 gene DOID:630 genetic disease ISO RGD:735821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973102 Ucp1 uncoupling protein 1 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:735821 D RGD:9068941 20200609 RGD DNA:SNP: :-3826A>G (human) PMID:15120704|REF_RGD_ID:7247625 8973102 Ucp1 uncoupling protein 1 gene DOID:9007692 Insulin Resistance ISO RGD:735821 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:5' utr:-112A>C (rs10011540) (human) PMID:16338218|REF_RGD_ID:1624979 8973102 Ucp1 uncoupling protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735821 D RGD:9068941 20200609 RGD DNA:polymorphisms:5' utr, exon:-112A>C (rs10011540), p.M229L (human) PMID:11317671|REF_RGD_ID:2313631 8973102 Ucp1 uncoupling protein 1 gene DOID:9970 obesity ISO RGD:735821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15592485 8973102 Ucp1 uncoupling protein 1 gene DOID:9970 obesity no_association ISO RGD:735821 D RGD:9068941 20200609 RGD DNA:polymorphism: :-3826A>G (human) PMID:8968850|REF_RGD_ID:1624977 8973116 Gldc glycine decarboxylase gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1318561 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8973116 Gldc glycine decarboxylase gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1318561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:25741868|PMID:27799067|PMID:28492532 8973116 Gldc glycine decarboxylase gene DOID:0080074 neural tube defect ISO RGD:1623050 D RGD:9068941 20200609 RGD PMID:25736695|REF_RGD_ID:12904662 8973116 Gldc glycine decarboxylase gene DOID:0080600 COVID-19 ISO RGD:1318561 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8973116 Gldc glycine decarboxylase gene DOID:10534 stomach cancer ISO RGD:1318561 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach: PMID:26722042|REF_RGD_ID:12904663 8973116 Gldc glycine decarboxylase gene DOID:10908 hydrocephalus ISO RGD:1623050 D RGD:9068941 20200609 RGD PMID:25736695|REF_RGD_ID:12904662 8973116 Gldc glycine decarboxylase gene DOID:1909 melanoma ISO RGD:1318561 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:16199547|PMID:16601880|PMID:27362913|PMID:28492532 8973116 Gldc glycine decarboxylase gene DOID:630 genetic disease ISO RGD:1318561 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11592811|PMID:12126939|PMID:16601880|PMID:16802295|PMID:17576681|PMID:25741868|PMID:26179960|PMID:26467025|PMID:27362913|PMID:27799067|PMID:28244183|PMID:28492532|PMID:29205322|PMID:29988937|PMID:32421718|PMID:32743799|PMID:33524012|PMID:9536098 8973116 Gldc glycine decarboxylase gene DOID:9001793 Generalized Epilepsy ISO RGD:1318561 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Generalized epilepsy PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:17361008|PMID:20301531|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532 8973116 Gldc glycine decarboxylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8973116 Gldc glycine decarboxylase gene DOID:9005920 Glycine Encephalopathy 1 ISO RGD:1318561 D RGD:7240710 20230614 OMIM 8973116 Gldc glycine decarboxylase gene DOID:9005920 Glycine Encephalopathy 1 ISO RGD:1318561 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GLYCINE ENCEPHALOPATHY 1 PMID:26539891|PMID:28492532 8973116 Gldc glycine decarboxylase gene DOID:9008086 Developmental Disabilities ISO RGD:1318561 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:17361008|PMID:20301531|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532 8973116 Gldc glycine decarboxylase gene DOID:9268 glycine encephalopathy ISO RGD:1318561 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:10798358|PMID:10873393|PMID:11286506|PMID:11592811|PMID:12126939|PMID:12402263|PMID:15192636|PMID:15236413|PMID:15272469|PMID:15670722|PMID:15791207|PMID:15824356|PMID:15851735|PMID:15864413|PMID:16199547|PMID:1634607|PMID:16404748|PMID:16450403|PMID:16601880|PMID:16802295|PMID:17074608|PMID:17361008|PMID:17576681|PMID:18581728|PMID:19763152|PMID:1996985|PMID:20301531|PMID:20307669|PMID:20691948|PMID:20933183|PMID:21316884|PMID:21411353|PMID:22171071|PMID:22206881|PMID:22406018|PMID:22532538|PMID:22633639|PMID:23349517|PMID:24033266|PMID:24123366|PMID:24407464|PMID:24838951|PMID:25231368|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26179960|PMID:26467025|PMID:26539891|PMID:26749113|PMID:26947380|PMID:26969502|PMID:27362813|PMID:27362913|PMID:273629130|PMID:27535533|PMID:27617160|PMID:27799067|PMID:27884173|PMID:27896094|PMID:28116331|PMID:28244183|PMID:28302194|PMID:28325525|PMID:28416785|PMID:28468868|PMID:28492532|PMID:28737873|PMID:29046206|PMID:29153744|PMID:29205322|PMID:29232014|PMID:29239742|PMID:29929752|PMID:29988937|PMID:30609409|PMID:31028937|PMID:31319225|PMID:31785789|PMID:32421718|PMID:32593896|PMID:32743799|PMID:33502061|PMID:33524012|PMID:33977025|PMID:34513771|PMID:34587689|PMID:35616651|PMID:445864|PMID:660|PMID:9536098 8973116 Gldc glycine decarboxylase gene DOID:9970 obesity ISO RGD:1318561 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Obesity PMID:10873393|PMID:11286506|PMID:12126939|PMID:15670722|PMID:15791207|PMID:17361008|PMID:20301531|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28492532 8973144 Pabpc1l poly(A) binding protein cytoplasmic 1 like gene DOID:2234 focal epilepsy ISO RGD:1346773 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8973144 Pabpc1l poly(A) binding protein cytoplasmic 1 like gene DOID:630 genetic disease ISO RGD:1346773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973144 Pabpc1l poly(A) binding protein cytoplasmic 1 like gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1346773 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8973144 Pabpc1l poly(A) binding protein cytoplasmic 1 like gene DOID:9006513 Oocyte Maturation Defect 1 ISO RGD:1346773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 1 8973175 E2f7 E2F transcription factor 7 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1321054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 8973175 E2f7 E2F transcription factor 7 gene DOID:630 genetic disease ISO RGD:1321054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973175 E2f7 E2F transcription factor 7 gene DOID:9000918 Disease Progression ISO RGD:1321054 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 8973198 Sppl2c signal peptide peptidase like 2C gene DOID:0050880 Koolen de Vries syndrome ISO RGD:1606947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Koolen-de Vries syndrome PMID:18628315|PMID:21094706|PMID:28492532 8973198 Sppl2c signal peptide peptidase like 2C gene DOID:1059 intellectual disability ISO RGD:1606947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8973198 Sppl2c signal peptide peptidase like 2C gene DOID:630 genetic disease ISO RGD:1606947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973198 Sppl2c signal peptide peptidase like 2C gene DOID:9255 frontotemporal dementia ISO RGD:1606947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:18628315|PMID:21094706|PMID:28492532 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:0050700 cardiomyopathy ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28445944 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:0060186 chemical colitis severity ISO RGD:1550521 D RGD:9068941 20201120 RGD Ace2 knockout PMID:22837003|REF_RGD_ID:40818307 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:0060186 chemical colitis severity ISO RGD:1550521 D RGD:9068941 20201203 RGD Ace2 inhibitor PMID:19517214|REF_RGD_ID:40818410 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:0060903 thrombosis treatment ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:20111697|REF_RGD_ID:9685451 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1347174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647384|PMID:16007097|PMID:19453650|PMID:19625462|PMID:22496216|PMID:23678171|PMID:24172901|PMID:24227843|PMID:25187545 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 ISO RGD:1347174 D RGD:9068941 20200625 RGD human gene in a mouse model PMID:32380511|REF_RGD_ID:30310239 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 ISO RGD:1347174 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:31996437|PMID:32061198|PMID:32081428|PMID:32092392|PMID:32117569|PMID:32129518|PMID:32132184|PMID:32133153|PMID:32142651|PMID:32149769|PMID:32201080|PMID:32203189|PMID:32275855|PMID:32286790|PMID:32404436 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 ISO RGD:1550521 D RGD:9068941 20220825 MouseDO 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 severity ISO RGD:1347174 D RGD:9068941 20200702 RGD DNA:insertion/deletion:intron 16: PMID:32220422|REF_RGD_ID:32716393 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:0080600 COVID-19 severity ISO RGD:1347174 D RGD:9068941 20220121 RGD PMID:34668775|PMID:34668780|REF_RGD_ID:151347432|REF_RGD_ID:151347433 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:10763 hypertension ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12075344|PMID:15833808|PMID:17473847|PMID:18391097|PMID:19221212|PMID:20559404|PMID:21859683 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:10763 hypertension ISO RGD:1347174 D RGD:9068941 20200609 RGD DNA:SNP:intron:8790A>G, associated with Metabolic Syndrome X (MeSH:D024821) PMID:16459167|REF_RGD_ID:1642828 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:10763 hypertension ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta PMID:20854846|REF_RGD_ID:9685442 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:10763 hypertension ISO RGD:728890 D RGD:9068941 20201127 RGD mRNA, protein:decreased expression:kidney (rat) PMID:12075344|REF_RGD_ID:629626 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:10763 hypertension treatment ISO RGD:1550521 D RGD:9068941 20200609 RGD PMID:16788004|REF_RGD_ID:9685435 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:10763 hypertension treatment ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:17345786|REF_RGD_ID:9685433 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22009550 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347174 D RGD:9068941 20201117 RGD mRNA, protein:increased expression:myocardium (human) PMID:32448590|REF_RGD_ID:40818260 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:12236 primary biliary cholangitis ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:17532087|REF_RGD_ID:9685452 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:1550521 D RGD:9068941 20200626 RGD PMID:26813885|REF_RGD_ID:32716392 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:1273 respiratory syncytial virus infectious disease treatment ISO RGD:1347174 D RGD:9068941 20200626 RGD human protein in a mouse model PMID:26813885|REF_RGD_ID:32716392 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:12849 autistic disorder ISO RGD:1347174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19221212 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16723697 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:13636 Fanconi anemia ISO RGD:1347174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:14069 cerebral malaria susceptibility ISO RGD:1347174 D RGD:9068941 20201203 RGD DNA:SNP:intron 1: C>T PMID:20117248|REF_RGD_ID:40818420 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:1686 glaucoma treatment ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:23702784|REF_RGD_ID:9685447 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:2030 anxiety disorder ISO RGD:1347174 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:26767952 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647384|PMID:16007097|PMID:16166518|PMID:16339146|PMID:19453650|PMID:19625462|PMID:23678171|PMID:24172901|PMID:24227843|PMID:26801988|PMID:31996437|PMID:32092392|PMID:32201080 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550521 D RGD:9068941 20200625 RGD mRNA:decreased expression:lung (mouse) PMID:32339157|REF_RGD_ID:30310237 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550521 D RGD:9068941 20201203 RGD mRNA, protein:decreased expression:heart (mouse) PMID:19453650|REF_RGD_ID:40818405 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:1550521 D RGD:9068941 20200618 RGD PMID:16007097|REF_RGD_ID:30309202 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome susceptibility ISO RGD:1347174 D RGD:9068941 20200625 RGD human gene in a mouse model PMID:17974127|REF_RGD_ID:30309965 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:2945 severe acute respiratory syndrome treatment ISO RGD:1347174 D RGD:9068941 20200702 RGD human gene in a mouse model PMID:32553273|REF_RGD_ID:32716426 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:24090950|REF_RGD_ID:9685436 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347174 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:19212105|REF_RGD_ID:2325210 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1347174 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:27550926|PMID:33007385 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1550521 D RGD:9068941 20200609 RGD PMID:20581171|REF_RGD_ID:4140483 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:4492 avian influenza severity ISO RGD:1550521 D RGD:9068941 20200626 RGD PMID:24800825|REF_RGD_ID:32716391 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:4492 avian influenza treatment ISO RGD:1347174 D RGD:9068941 20200626 RGD human protein in a mouse model PMID:24800825|REF_RGD_ID:32716391 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:5844 myocardial infarction ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:15671045|REF_RGD_ID:1558664 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:5844 myocardial infarction treatment ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:23959549|REF_RGD_ID:9685449 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:6000 congestive heart failure ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25973029 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:6000 congestive heart failure ISO RGD:1347174 D RGD:9068941 20201203 RGD mRNA, protein:increased expression:heart (human) PMID:32227090|REF_RGD_ID:40818416 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:6000 congestive heart failure ISO RGD:1550521 D RGD:9068941 20220825 MouseDO 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:630 genetic disease ISO RGD:1347174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:6432 pulmonary hypertension ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31931441 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:6432 pulmonary hypertension treatment ISO RGD:1347174 D RGD:9068941 20201118 RGD human protein in a rat model PMID:25225206|REF_RGD_ID:40818280 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25301841 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:850 lung disease ISO RGD:728890 D RGD:9068941 20200609 RGD associated with Poisoning;mRNA:decreased expression:lung PMID:20465954|REF_RGD_ID:4140485 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:874 bacterial pneumonia ISO RGD:1550521 D RGD:9068941 20201117 RGD associated with Pseudomonas Infections;mRNA, protein:altered expression, altered activity:lung (mouse) PMID:31645418|REF_RGD_ID:40818279 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:8947 diabetic retinopathy ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31380462 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1347174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21792177|REF_RGD_ID:8548900 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1347174 D RGD:9068941 20201117 RGD human gene in a mouse model PMID:31380462|REF_RGD_ID:40818278 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9000310 Lung Injury ISO RGD:1347174 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16001071|PMID:19864379|PMID:20484496|PMID:33007385 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1347174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :8790G>A (human) PMID:18753062|REF_RGD_ID:2313798 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:728890 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:728890 D RGD:9068941 20230817 RGD associated with maternal adenine induced chronic kidney disease PMID:32604820|REF_RGD_ID:401793718 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:728890 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19793108|REF_RGD_ID:2316776 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:728890 D RGD:9068941 20201117 RGD mRNA, protein:increased expression, increased activity:liver (rat) PMID:16166274|REF_RGD_ID:40818265 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:17977916|REF_RGD_ID:8548898 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9001981 Weight Loss ISO RGD:1347174 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33007385 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12623933|PMID:17600118|PMID:20844835 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:decreased expression:kidney PMID:19034303|REF_RGD_ID:2313797 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1347174 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:kidney PMID:19077419|REF_RGD_ID:2313796 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1550521 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18235039|REF_RGD_ID:2313800 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1347174 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple (human) PMID:18235039|REF_RGD_ID:2313800 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9002721 Hypertensive Nephrosclerosis severity ISO RGD:1347174 D RGD:9068941 20201203 RGD mRNA, protein:decreased expression, increased expression:nephron tubule, kidney interstitium (human) PMID:21346373|REF_RGD_ID:40818408 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:728890 D RGD:9068941 20200609 RGD associated with Hypertension PMID:21148624|REF_RGD_ID:9685434 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347174 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9004531 Cardiovirus Infections ISO RGD:1550521 D RGD:9068941 20201120 RGD encephalomyocarditis virus;mRNA, protein:decreased expression, increased expression:heart (mouse) PMID:19453650|REF_RGD_ID:40818405 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury ISO RGD:1347174 D RGD:9068941 20210115 CTD CTD Direct Evidence: therapeutic PMID:27302421 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury ISO RGD:1550521 D RGD:9068941 20201120 RGD associated with avian influenza;protein:decreased expression:lung (mouse) PMID:25391767|REF_RGD_ID:40818412 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury severity ISO RGD:1550521 D RGD:9068941 20200626 RGD PMID:16001071|REF_RGD_ID:32716389 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1347174 D RGD:9068941 20200626 RGD human protein in a mouse model PMID:16001071|REF_RGD_ID:32716389 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1550521 D RGD:9068941 20201120 RGD associated with Escherichia coli Infections PMID:29990483|REF_RGD_ID:40400897 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:728890 D RGD:9068941 20200609 RGD PMID:18544849|REF_RGD_ID:9685455 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9005372 Inflammation ISO RGD:1347174 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19453650 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:728890 D RGD:9068941 20200609 RGD protein:altered expression:kidney PMID:18679036|REF_RGD_ID:2313799 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9005883 Pleural Effusion ISO RGD:1347174 D RGD:9068941 20201120 RGD associated with tuberculosis;protein:decreased activity:pleural fluid (human) PMID:23091417|REF_RGD_ID:40818411 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:728890 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:20528771|REF_RGD_ID:9685432 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:1347174 D RGD:9068941 20201117 RGD human gene in a mouse model PMID:25228068|REF_RGD_ID:40818264 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:728890 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22595130|REF_RGD_ID:9685456 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:1550521 D RGD:9068941 20200609 RGD associated with Diabetic Cardiomyopathies PMID:22340266|REF_RGD_ID:9685428 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:1550521 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:20507236|REF_RGD_ID:9685439 8973203 Ace2 angiotensin converting enzyme 2 gene DOID:9007174 Ventricular Remodeling treatment ISO RGD:728890 D RGD:9068941 20200609 RGD associated with Acute Kidney Injury PMID:18223026|REF_RGD_ID:9685440 8973230 Armc3 armadillo repeat containing 3 gene DOID:630 genetic disease ISO RGD:1312695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973230 Armc3 armadillo repeat containing 3 gene DOID:9008973 Familial Persistent Stuttering 4 ISO RGD:1312695 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Stuttering, familial persistent, 4 8973255 F11 coagulation factor XI gene DOID:0060903 thrombosis ISO RGD:1319673 D RGD:9068941 20200609 RGD DNA:SNPs:intron: rs2289252,rs2036914(human) PMID:22633531|REF_RGD_ID:11041774 8973255 F11 coagulation factor XI gene DOID:0060903 thrombosis susceptibility ISO RGD:1319673 D RGD:9068941 20200609 RGD DNA:SNPs:intron: rs2289252,rs2036914(human) PMID:19583818|REF_RGD_ID:11041778 8973255 F11 coagulation factor XI gene DOID:10763 hypertension ISO RGD:1319673 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6383834 8973255 F11 coagulation factor XI gene DOID:12849 autistic disorder ISO RGD:1319673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8973255 F11 coagulation factor XI gene DOID:2213 hemorrhagic disease ISO RGD:1319673 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10593931|PMID:11122101|PMID:15026311|PMID:15140127|PMID:15531455|PMID:16079124|PMID:16519703|PMID:16835901|PMID:18515884|PMID:20015217|PMID:2052060|PMID:21668437|PMID:23929304|PMID:24033266|PMID:24982842|PMID:25741868|PMID:2813350|PMID:28492532|PMID:31064749|PMID:9326232 8973255 F11 coagulation factor XI gene DOID:2222 factor X deficiency ISO RGD:1319673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital factor X deficiency PMID:25741868|PMID:31064749 8973255 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:7240710 20180130 OMIM 8973255 F11 coagulation factor XI gene DOID:2229 factor XI deficiency ISO RGD:1319673 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease | ClinVar Annotator: match by term: Plasma factor XI deficiency PMID:10444286|PMID:10593931|PMID:10606881|PMID:10706758|PMID:11122101|PMID:11127865|PMID:11418471|PMID:11895778|PMID:12586617|PMID:12716376|PMID:12879434|PMID:14508802|PMID:14717969|PMID:15026311|PMID:15090552|PMID:15140127|PMID:15140147|PMID:15180874|PMID:15456490|PMID:1547342|PMID:15531455|PMID:15613027|PMID:15634276|PMID:15728123|PMID:15749683|PMID:15842381|PMID:15870541|PMID:15946525|PMID:15953011|PMID:15968392|PMID:16079124|PMID:16086308|PMID:16199547|PMID:16519703|PMID:16607084|PMID:16787881|PMID:16835901|PMID:17229051|PMID:17549289|PMID:17576681|PMID:18005151|PMID:18024374|PMID:18327400|PMID:18388506|PMID:18446632|PMID:18515884|PMID:18758779|PMID:18832909|PMID:18839438|PMID:19367158|PMID:19652879|PMID:20015217|PMID:20398070|PMID:2052060|PMID:20523169|PMID:21192253|PMID:21457405|PMID:21649796|PMID:21668437|PMID:21718436|PMID:21824284|PMID:22016685|PMID:22159456|PMID:22197449|PMID:23305485|PMID:23315997|PMID:23332144|PMID:23929304|PMID:24033266|PMID:24112640|PMID:24982842|PMID:25074526|PMID:25158988|PMID:25681615|PMID:25741868|PMID:25741869|PMID:26558335|PMID:26879396|PMID:27067486|PMID:27710856|PMID:27723456|PMID:2813350|PMID:28445521|PMID:28492532|PMID:28615222|PMID:28960694|PMID:29138690|PMID:29178608|PMID:29367083|PMID:30261521|PMID:31064749|PMID:31644447|PMID:32220196|PMID:32333264|PMID:32581362|PMID:32596782|PMID:34355501|PMID:34776502|PMID:35059554|PMID:35627175|PMID:36195107|PMID:7669672|PMID:7888672|PMID:8832909|PMID:9326232|PMID:9401068|PMID:9536098|PMID:9787168 8973255 F11 coagulation factor XI gene DOID:3490 Noonan syndrome ISO RGD:1319673 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:3354599|REF_RGD_ID:11041743 8973255 F11 coagulation factor XI gene DOID:3525 middle cerebral artery infarction ISO RGD:1319674 D RGD:9068941 20200609 RGD PMID:16533887|REF_RGD_ID:11041786 8973255 F11 coagulation factor XI gene DOID:630 genetic disease ISO RGD:1319673 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10593931|PMID:15026311|PMID:15140127|PMID:16835901|PMID:2052060|PMID:23929304|PMID:24033266|PMID:25741868|PMID:2813350|PMID:28492532|PMID:31064749|PMID:9326232 8973255 F11 coagulation factor XI gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1319673 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cerebral hemorrhage PMID:27067486|PMID:34776502 8973255 F11 coagulation factor XI gene DOID:9003281 Spontaneous Abortions ISO RGD:1319673 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:25517908|REF_RGD_ID:11041767 8973255 F11 coagulation factor XI gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1319673 D RGD:9068941 20200609 RGD protein:increased activity:blood: PMID:10706899|REF_RGD_ID:11041768 8973255 F11 coagulation factor XI gene DOID:9004484 Sepsis ISO RGD:1309364 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 8973255 F11 coagulation factor XI gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1319673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 8973280 Opalin oligodendrocytic myelin paranodal and inner loop protein gene DOID:630 genetic disease ISO RGD:1317163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973305 Cacng7 calcium voltage-gated channel auxiliary subunit gamma 7 gene DOID:1059 intellectual disability ISO RGD:732586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8973305 Cacng7 calcium voltage-gated channel auxiliary subunit gamma 7 gene DOID:630 genetic disease ISO RGD:732586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973315 Nf1 neurofibromin 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737471 D RGD:7240710 20180130 OMIM 8973315 Nf1 neurofibromin 1 gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:737471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:10076878|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11726231|PMID:11735023|PMID:11857752|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12687660|PMID:12807981|PMID:12822827|PMID:14517963|PMID:14569132|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523642|PMID:1568246|PMID:1568247|PMID:15846561|PMID:16199547|PMID:16380919|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17295913|PMID:17311297|PMID:17406642|PMID:17426081|PMID:1757093|PMID:17576681|PMID:17726231|PMID:1783401|PMID:17889038|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19738042|PMID:19845691|PMID:19935827|PMID:20301288|PMID:20601955|PMID:20602485|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21520333|PMID:21532985|PMID:21838856|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22703879|PMID:22807134|PMID:22925204|PMID:22965773|PMID:23047742|PMID:23244495|PMID:23404336|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24694336|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:25074460|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25624686|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25925892|PMID:25966637|PMID:26056819|PMID:26088551|PMID:26178382|PMID:26467025|PMID:26478990|PMID:26509978|PMID:26514327|PMID:26635368|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26962827|PMID:26969325|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27498913|PMID:27716896|PMID:27838393|PMID:27980226|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28135719|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28548933|PMID:28706617|PMID:28873162|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29089047|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29522274|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29673180|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29914388|PMID:29926981|PMID:29957862|PMID:30014477|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31443423|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:32005694|PMID:32056211|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32461654|PMID:32533764|PMID:32566746|PMID:32575496|PMID:32581362|PMID:33046013|PMID:33372952|PMID:33471991|PMID:33540839|PMID:33674644|PMID:33804961|PMID:33919865|PMID:34080803|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34988040|PMID:35264596|PMID:35698239|PMID:35885913|PMID:36988593|PMID:37149759|PMID:7581973|PMID:7607663|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8664912|PMID:8669813|PMID:8829638|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9150739|PMID:9180088|PMID:9219873|PMID:9298829|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9639526|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:737471 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:21390130|PMID:22158541|PMID:23292937 8973315 Nf1 neurofibromin 1 gene DOID:0050771 pheochromocytoma ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:11857752|PMID:12095621|PMID:14722917|PMID:1568247|PMID:16380919|PMID:16513807|PMID:16786508|PMID:18546366|PMID:22155606|PMID:22807134|PMID:23244495|PMID:24033266|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26840085|PMID:27322474|PMID:27716896|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:31595648|PMID:32107864|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:9003501|PMID:9219873 8973315 Nf1 neurofibromin 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737471 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:28492532|PMID:30763456 8973315 Nf1 neurofibromin 1 gene DOID:0060320 inguinal hernia ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:10712197|PMID:23656349|PMID:23913538|PMID:25741868|PMID:28492532 8973315 Nf1 neurofibromin 1 gene DOID:0070482 spinal neurofibromatosis ISO RGD:737471 D RGD:7240710 20180130 OMIM 8973315 Nf1 neurofibromin 1 gene DOID:0070482 spinal neurofibromatosis ISO RGD:737471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, familial spinal PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11704931|PMID:11735023|PMID:11857752|PMID:12095621|PMID:12112660|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12807981|PMID:14517963|PMID:14569132|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:1568246|PMID:1568247|PMID:15858190|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17160901|PMID:17295913|PMID:17311297|PMID:17426081|PMID:1745350|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18546366|PMID:18800150|PMID:190611|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19935827|PMID:20301288|PMID:20601955|PMID:20602485|PMID:20605257|PMID:2114220|PMID:21271658|PMID:21354044|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21732117|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22207399|PMID:22703879|PMID:22807134|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23047742|PMID:23244495|PMID:23407919|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23812910|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24676943|PMID:24694336|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26580448|PMID:26635368|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26962827|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27498913|PMID:27716896|PMID:27793025|PMID:27838393|PMID:28130400|PMID:28135719|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:30014477|PMID:30086788|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31533651|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31882575|PMID:31891871|PMID:32107864|PMID:32126153|PMID:32461654|PMID:32566746|PMID:32980694|PMID:33046013|PMID:33322618|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33674644|PMID:33840814|PMID:34080803|PMID:34418705|PMID:34782607|PMID:35024939|PMID:35091509|PMID:35264596|PMID:35885913|PMID:36988593|PMID:7607663|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8669813|PMID:8829638|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9219684|PMID:9219873|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9529361|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:0070483 Watson syndrome ISO RGD:737471 D RGD:7240710 20180130 OMIM 8973315 Nf1 neurofibromin 1 gene DOID:0070483 Watson syndrome ISO RGD:737471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11137998|PMID:11258625|PMID:11431704|PMID:12095621|PMID:12112660|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12807981|PMID:1302608|PMID:14569132|PMID:14722917|PMID:15060124|PMID:15146469|PMID:15207265|PMID:1568246|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16835897|PMID:16870183|PMID:16944272|PMID:17160901|PMID:17295913|PMID:17311297|PMID:17426081|PMID:1757093|PMID:17726231|PMID:1783401|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18546366|PMID:18800150|PMID:190611|PMID:19076627|PMID:19120036|PMID:19935827|PMID:20301288|PMID:20601955|PMID:20602485|PMID:20844836|PMID:2114220|PMID:21354044|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22703879|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:25074460|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26580448|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26962827|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27498913|PMID:27716896|PMID:27793025|PMID:27838393|PMID:28135719|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28976792|PMID:29089047|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31533797|PMID:31595648|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31891871|PMID:32461654|PMID:32566746|PMID:33046013|PMID:33322618|PMID:33471991|PMID:33540839|PMID:33562071|PMID:34418705|PMID:35885913|PMID:36988593|PMID:7607663|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:8069310|PMID:8317503|PMID:8385067|PMID:8544190|PMID:8834249|PMID:8845843|PMID:9042399|PMID:9385374|PMID:9463322|PMID:9654211|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:0080199 colorectal carcinoma severity ISO RGD:737471 D RGD:9068941 20210917 RGD protein:increased expression:colorectum (human) PMID:27798892|REF_RGD_ID:150429697 8973315 Nf1 neurofibromin 1 gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia PMID:17576681|PMID:23656349|PMID:25741868|PMID:28492532|PMID:9536098 8973315 Nf1 neurofibromin 1 gene DOID:0080690 RASopathy ISO RGD:737471 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: RASopathy PMID:10712197|PMID:16199547|PMID:23913538|PMID:24789688|PMID:25741868|PMID:28492532 8973315 Nf1 neurofibromin 1 gene DOID:0080875 IDH-mutant anaplastic astrocytoma ISO RGD:737471 D RGD:8554872 20240123 ClinVar ClinVar Annotator: match by term: Astrocytoma IDH-mutant PMID:25741868|PMID:28492532 8973315 Nf1 neurofibromin 1 gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:737471 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868|PMID:26740943|PMID:28492532|PMID:29684080|PMID:31882575 8973315 Nf1 neurofibromin 1 gene DOID:0111222 centronuclear myopathy 5 ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 PMID:10862084|PMID:12552569|PMID:15060124|PMID:15863657|PMID:16944272|PMID:17726231|PMID:24033266|PMID:25741868|PMID:28492532 8973315 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:7240710 20180130 OMIM 8973315 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20231024 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:10076878|PMID:10090487|PMID:10220149|PMID:10336779|PMID:10451518|PMID:10494088|PMID:10534774|PMID:10543400|PMID:10587576|PMID:10607834|PMID:10631140|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11726231|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12403553|PMID:12438263|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12624144|PMID:12687660|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12808981|PMID:12822827|PMID:12872266|PMID:1302608|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14605872|PMID:14635100|PMID:14722914|PMID:14722917|PMID:1483690|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15257518|PMID:15338462|PMID:15520408|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15858190|PMID:15863657|PMID:1587809|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16380919|PMID:16397625|PMID:16405917|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16787982|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:1719426|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17889038|PMID:17914445|PMID:17960768|PMID:18000842|PMID:18021924|PMID:18041031|PMID:18055911|PMID:18183042|PMID:18183640|PMID:18196300|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:1937470|PMID:19449407|PMID:19665063|PMID:19738042|PMID:19763152|PMID:19785027|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20229272|PMID:20301288|PMID:20307669|PMID:20358387|PMID:20513137|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:2152033|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21618341|PMID:21732117|PMID:21822264|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22159552|PMID:22190595|PMID:22207399|PMID:22222937|PMID:22241097|PMID:22406018|PMID:22608206|PMID:22617876|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22837079|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23175693|PMID:23222849|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23417386|PMID:23460398|PMID:23532973|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:2411134|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24451118|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:24958239|PMID:25074460|PMID:25156439|PMID:25166435|PMID:25205021|PMID:25211147|PMID:25234363|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25520849|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25624686|PMID:25631097|PMID:25640679|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25834617|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449 8973315 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33877690|PMID:33911094|PMID:33919865|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34887559|PMID:34906502|PMID:34988040|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36988593|PMID:4633999|PMID:7311297|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275 8973315 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33877690|PMID:33911094|PMID:33919865|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34887559|PMID:34906502|PMID:34988040|PMID:34992632|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36988593|PMID:37149759|PMID:4633999|PMID:7311297|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098 8973315 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis PMID:10076878|PMID:10090487|PMID:10220149|PMID:10336779|PMID:10451518|PMID:10494088|PMID:10534774|PMID:10543400|PMID:10587576|PMID:10607834|PMID:10631140|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11726231|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12403553|PMID:12438263|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12624144|PMID:12687660|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12808981|PMID:12822827|PMID:12872266|PMID:1302608|PMID:1370276|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14605872|PMID:14635100|PMID:14722914|PMID:14722917|PMID:1483690|PMID:1506012|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15257518|PMID:15338462|PMID:15520408|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15858190|PMID:15863657|PMID:1587809|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16405917|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16787982|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:1719426|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17889038|PMID:17914445|PMID:17960768|PMID:18000842|PMID:18021924|PMID:18041031|PMID:18055911|PMID:18183042|PMID:18183640|PMID:18196300|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:1937470|PMID:19449407|PMID:19665063|PMID:19738042|PMID:19763152|PMID:19785027|PMID:19823873|PMID:19845691|PMID:19920235|PMID:19935827|PMID:20015894|PMID:20186797|PMID:20229272|PMID:20301288|PMID:20307669|PMID:20358387|PMID:20513137|PMID:20601955|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:2152033|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21618341|PMID:21732117|PMID:21822264|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22159552|PMID:22190595|PMID:22207399|PMID:22222937|PMID:22241097|PMID:22406018|PMID:22608206|PMID:22617876|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22837079|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23175693|PMID:23222849|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23417386|PMID:23460398|PMID:23532973|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:2411134|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24418705|PMID:24448499|PMID:24451118|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:2480366|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:24958239|PMID:25049390|PMID:25074460|PMID:25156439|PMID:25166435|PMID:25205021|PMID:25211147|PMID:25234363|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25520849|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25624686|PMID:25631097|PMID:25640679|PMID:25733387|PMID:25741868|PMID:25788518 8973315 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis PMID:25810463|PMID:25834617|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26189818|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26822949|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27234610|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27629806|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27959697|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28135719|PMID:28152038|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28924536|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29471550|PMID:29483232|PMID:2948975|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29588991|PMID:29618358|PMID:29620724|PMID:29625052|PMID:29673180|PMID:29680440|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30098238|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30124220|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30602027|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30828344|PMID:30877234|PMID:30977107|PMID:31031587|PMID:31048186|PMID:31066482|PMID:31130284|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31397088|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31507634|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31690835|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32369273|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32552793|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32761593|PMID:32860008|PMID:32873259|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33210232|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33794220|PMID:33804961|PMID:33877690|PMID:33911094|PMID:33919865|PMID:33999308|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34308366|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34439939|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34887559|PMID:34906502|PMID:34988040|PMID:34992632|PMID:35024939|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35353986|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36988593|PMID:37149759|PMID:4633999|PMID:7311297|PMID:7542886|PMID:7581973|PMID:7586657|PMID:7607663|PMID:7633431|PMID:7643367|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8034304|PMID:8069310|PMID:8069315|PMID:8081387|PMID:8099055|PMID:8116612|PMID:8118468|PMID:8242079|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638 8973315 Nf1 neurofibromin 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:737471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis PMID:8834249|PMID:8837715|PMID:8845843|PMID:8931693|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9101303|PMID:9109662|PMID:9132486|PMID:9150739|PMID:9177273|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9452037|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9639526|PMID:9643287|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:737471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:16138229|PMID:23656349|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27793025|PMID:28492532|PMID:31159747|PMID:31891871|PMID:33471991 8973315 Nf1 neurofibromin 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:737471 D RGD:7240710 20180130 OMIM 8973315 Nf1 neurofibromin 1 gene DOID:0111683 neurofibromatosis-Noonan syndrome ISO RGD:737471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome PMID:10076878|PMID:10090487|PMID:10336779|PMID:10451518|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11137998|PMID:11258625|PMID:11431704|PMID:12095621|PMID:12112660|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12707950|PMID:12807981|PMID:14569132|PMID:14722917|PMID:15060124|PMID:15146469|PMID:15207265|PMID:15523642|PMID:1568246|PMID:15863657|PMID:16138229|PMID:16199547|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16835897|PMID:16870183|PMID:16944272|PMID:17160901|PMID:17295913|PMID:17311297|PMID:17426081|PMID:1757093|PMID:17668375|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19221814|PMID:19738042|PMID:19845691|PMID:19935827|PMID:20301288|PMID:20601955|PMID:20602485|PMID:2114220|PMID:21271658|PMID:21354044|PMID:21520333|PMID:21532985|PMID:22034633|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22703879|PMID:22807134|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23404336|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23913538|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24463508|PMID:24654934|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24951259|PMID:25074460|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26467025|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26580448|PMID:26635368|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27498913|PMID:27793025|PMID:27838393|PMID:27980226|PMID:27999334|PMID:28135719|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29290338|PMID:29415745|PMID:29483232|PMID:29522274|PMID:29758562|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:30014477|PMID:30111351|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30877234|PMID:31159747|PMID:31160754|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31868168|PMID:31891871|PMID:32461654|PMID:32566746|PMID:33046013|PMID:33322618|PMID:33372952|PMID:33471991|PMID:33540839|PMID:33562071|PMID:34080803|PMID:34418705|PMID:34427956|PMID:34988040|PMID:35039564|PMID:35836575|PMID:35885913|PMID:36988593|PMID:7586657|PMID:7607663|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:8069310|PMID:8385067|PMID:8544190|PMID:8664912|PMID:8834249|PMID:8845843|PMID:9042399|PMID:9109662|PMID:9219684|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:10126 keratoconus ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 8973315 Nf1 neurofibromin 1 gene DOID:10534 stomach cancer ISO RGD:737471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10494088|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:11137998|PMID:12112660|PMID:12552569|PMID:12807981|PMID:14569132|PMID:14722917|PMID:15060124|PMID:15146469|PMID:1568246|PMID:15863657|PMID:16199547|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16542390|PMID:16544997|PMID:16835897|PMID:16870183|PMID:16941471|PMID:16944272|PMID:17160901|PMID:17209131|PMID:17311297|PMID:17551851|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18546366|PMID:190611|PMID:19061981|PMID:20301288|PMID:20602485|PMID:21354044|PMID:21532985|PMID:22108604|PMID:22925204|PMID:23010473|PMID:23047742|PMID:23460398|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24413922|PMID:24654934|PMID:24789688|PMID:25240281|PMID:25324867|PMID:25325900|PMID:25541118|PMID:25741868|PMID:25810463|PMID:26056819|PMID:26088551|PMID:26230854|PMID:26467025|PMID:26962827|PMID:26969325|PMID:27069254|PMID:27322474|PMID:27838393|PMID:28492532|PMID:28873162|PMID:29290338|PMID:29483232|PMID:29498099|PMID:29618358|PMID:29872168|PMID:29914388|PMID:29926981|PMID:30190611|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:31160754|PMID:31347283|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31717729|PMID:31730495|PMID:31766501|PMID:32554297|PMID:34418705|PMID:34427956|PMID:35698239|PMID:36988593|PMID:7607663|PMID:7655472|PMID:7904209|PMID:8834249|PMID:9180088|PMID:9385374|PMID:9463322 8973315 Nf1 neurofibromin 1 gene DOID:1059 intellectual disability ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12807981|PMID:18183640|PMID:19120036|PMID:24357598|PMID:24789688|PMID:25370043|PMID:25533962|PMID:25741868|PMID:26178382|PMID:26706011|PMID:26740943|PMID:28492532|PMID:29522274 8973315 Nf1 neurofibromin 1 gene DOID:1059 intellectual disability ISO RGD:737471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:12807981|PMID:18183640|PMID:19120036|PMID:20301288|PMID:24357598|PMID:24789688|PMID:25370043|PMID:25533962|PMID:25741868|PMID:25966637|PMID:26178382|PMID:26467025|PMID:26706011|PMID:26740943|PMID:28135719|PMID:28492532|PMID:29522274 8973315 Nf1 neurofibromin 1 gene DOID:10907 microcephaly ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30308447 8973315 Nf1 neurofibromin 1 gene DOID:11054 urinary bladder cancer ISO RGD:737471 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10090487|PMID:10712197|PMID:10862084|PMID:10980545|PMID:12112660|PMID:12746402|PMID:12807981|PMID:15060124|PMID:15627836|PMID:16835897|PMID:16944272|PMID:19221814|PMID:19292874|PMID:20015894|PMID:23656349|PMID:23913538|PMID:24033266|PMID:25074460|PMID:25541118|PMID:25741868|PMID:26467025|PMID:27838393|PMID:27862945|PMID:28492532|PMID:28961165|PMID:30014477|PMID:31370276|PMID:32107864|PMID:32860008|PMID:34694046|PMID:35024939|PMID:36988593|PMID:8069310 8973315 Nf1 neurofibromin 1 gene DOID:1115 sarcoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 8973315 Nf1 neurofibromin 1 gene DOID:11446 sciatic neuropathy ISO RGD:3168 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:8847098|REF_RGD_ID:12790590 8973315 Nf1 neurofibromin 1 gene DOID:12849 autistic disorder ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15389774 8973315 Nf1 neurofibromin 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:737471 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:GXAlu, IVS27AC28.4 (human) PMID:15389774|REF_RGD_ID:12743657 8973315 Nf1 neurofibromin 1 gene DOID:13742 neurofibroma of spinal cord ISO RGD:737471 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Spinal neurofibroma 8973315 Nf1 neurofibromin 1 gene DOID:1909 melanoma ISO RGD:737471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8973315 Nf1 neurofibromin 1 gene DOID:1969 cerebral palsy ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8973315 Nf1 neurofibromin 1 gene DOID:219 colon cancer ISO RGD:737471 D RGD:9068941 20210917 RGD mRNA:increased expression:colon (human) PMID:15840687|REF_RGD_ID:150429699 8973315 Nf1 neurofibromin 1 gene DOID:2226 myeloproliferative neoplasm ISO RGD:737471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:10678181|PMID:23460398|PMID:27069254|PMID:28492532|PMID:29872168|PMID:35101336 8973315 Nf1 neurofibromin 1 gene DOID:224 transient cerebral ischemia ISO RGD:3168 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:astrocyte: PMID:8820972|REF_RGD_ID:12789703 8973315 Nf1 neurofibromin 1 gene DOID:2394 ovarian cancer ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532|PMID:30287823|PMID:30290804|PMID:30784236|PMID:33471991 8973315 Nf1 neurofibromin 1 gene DOID:3068 glioblastoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 8973315 Nf1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:10973 D RGD:9068941 20200609 RGD PMID:10973261|REF_RGD_ID:1302542 8973315 Nf1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20176786|PMID:23817572 8973315 Nf1 neurofibromin 1 gene DOID:3069 malignant astrocytoma ISO RGD:737471 D RGD:9068941 20200609 RGD protein:decreased expression:brain: PMID:10931370|REF_RGD_ID:12743656 8973315 Nf1 neurofibromin 1 gene DOID:3070 high grade glioma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 8973315 Nf1 neurofibromin 1 gene DOID:3070 high grade glioma disease_progression ISO RGD:737471 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:26190195|REF_RGD_ID:12789702 8973315 Nf1 neurofibromin 1 gene DOID:3192 neurilemmoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 8973315 Nf1 neurofibromin 1 gene DOID:3247 rhabdomyosarcoma ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10090487|PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10862084|PMID:10980545|PMID:11258625|PMID:11857752|PMID:12112660|PMID:12566521|PMID:12746402|PMID:12807981|PMID:1511985|PMID:15627836|PMID:16199547|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17426081|PMID:17576681|PMID:17668375|PMID:18041031|PMID:18484666|PMID:18546366|PMID:19076627|PMID:19221814|PMID:19292874|PMID:19738042|PMID:20015894|PMID:21354044|PMID:22155606|PMID:22190595|PMID:23222849|PMID:23404336|PMID:23460398|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24789688|PMID:24932921|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26056819|PMID:26467025|PMID:26478990|PMID:26740943|PMID:26908603|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27838393|PMID:27862945|PMID:28422438|PMID:28492532|PMID:28955729|PMID:29522274|PMID:29673180|PMID:29872168|PMID:29914388|PMID:30014477|PMID:31533797|PMID:31717729|PMID:31776437|PMID:32107864|PMID:32860008|PMID:33372952|PMID:34080803|PMID:34694046|PMID:7655472|PMID:8069310|PMID:8099055|PMID:9536098|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:3355 fibrosarcoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 8973315 Nf1 neurofibromin 1 gene DOID:3369 Ewing sarcoma ISO RGD:737471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ewing sarcoma | ClinVar Annotator: match by term: Ewing tumor PMID:10494088|PMID:10607834|PMID:10712197|PMID:11137998|PMID:12112660|PMID:12807981|PMID:15060124|PMID:16479075|PMID:16870183|PMID:17311297|PMID:20301288|PMID:22925204|PMID:23668869|PMID:23913538|PMID:25741868|PMID:25810463|PMID:26467025|PMID:26962827|PMID:27322474|PMID:27838393|PMID:28492532|PMID:30290804|PMID:30530636|PMID:31347283|PMID:31730495|PMID:36988593|PMID:7607663|PMID:9385374|PMID:9463322 8973315 Nf1 neurofibromin 1 gene DOID:3382 liposarcoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601955 8973315 Nf1 neurofibromin 1 gene DOID:3840 craniopharyngioma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniopharyngioma PMID:25741868|PMID:28492532 8973315 Nf1 neurofibromin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737471 D RGD:9068941 20210521 RGD mRNA:increased expression:lung (human) PMID:30280776|REF_RGD_ID:126925764 8973315 Nf1 neurofibromin 1 gene DOID:4851 pilocytic astrocytoma ISO RGD:737471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:10712197|PMID:23913538|PMID:25741868|PMID:28492532 8973315 Nf1 neurofibromin 1 gene DOID:4992 optic nerve glioma ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic nerve glioma PMID:10712197|PMID:16199547|PMID:23913538|PMID:25741868|PMID:28492532|PMID:29483232 8973315 Nf1 neurofibromin 1 gene DOID:4992 optic nerve glioma susceptibility ISO RGD:737471 D RGD:9068941 20200609 RGD associated with Neurofibromatosis 1; DNA:mutations:5'end: PMID:21278392|REF_RGD_ID:12789442 8973315 Nf1 neurofibromin 1 gene DOID:5078 ganglioglioma ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ganglioglioma PMID:10712197|PMID:15523642|PMID:16835897|PMID:16944272|PMID:18546366|PMID:19738042|PMID:23913538|PMID:24357598|PMID:25325900|PMID:25741868|PMID:26467025|PMID:27980226|PMID:28492532|PMID:31371350|PMID:34427956|PMID:34988040|PMID:7607663 8973315 Nf1 neurofibromin 1 gene DOID:5151 plexiform neurofibroma ISO RGD:737471 D RGD:9068941 20210528 RGD associated with severe combined immunodeficiency, human cells in mouse model PMID:17335073|REF_RGD_ID:126925763 8973315 Nf1 neurofibromin 1 gene DOID:540 strabismus ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Strabismus PMID:21520333|PMID:23656349|PMID:25741868|PMID:28492532|PMID:29089047|PMID:33471991 8973315 Nf1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:9691142 8973315 Nf1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:9691142 8973315 Nf1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 8973315 Nf1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:21520333|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 8973315 Nf1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:31370276|PMID:32566746|PMID:33471991|PMID:35091509|PMID:9691142 8973315 Nf1 neurofibromin 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10336779|PMID:11857752|PMID:12807981|PMID:15146469|PMID:23913538|PMID:24789688|PMID:25741868|PMID:26467025|PMID:26489445|PMID:26510091|PMID:28492532|PMID:29089047|PMID:30287823|PMID:31370276|PMID:32566746|PMID:33471991|PMID:35091509|PMID:35264596|PMID:9691142 8973315 Nf1 neurofibromin 1 gene DOID:630 genetic disease ISO RGD:737471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10607834|PMID:10678181|PMID:10712197|PMID:10862084|PMID:10980545|PMID:11258625|PMID:11857752|PMID:12483293|PMID:12746402|PMID:12807981|PMID:15060124|PMID:1511985|PMID:16199547|PMID:16479075|PMID:16835897|PMID:16937374|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17311297|PMID:17426081|PMID:17576681|PMID:17726231|PMID:17889038|PMID:18041031|PMID:18484666|PMID:18546366|PMID:21031597|PMID:21354044|PMID:23460398|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24033266|PMID:24932921|PMID:25074460|PMID:25211147|PMID:25325900|PMID:25356970|PMID:25525159|PMID:25624686|PMID:25741868|PMID:25788518|PMID:26467025|PMID:26514327|PMID:26740943|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:2783839|PMID:27838393|PMID:28068329|PMID:28152038|PMID:28492532|PMID:28529006|PMID:28955729|PMID:29089047|PMID:29618358|PMID:29620724|PMID:29673180|PMID:30014477|PMID:30287823|PMID:30290804|PMID:30308447|PMID:31370276|PMID:31476437|PMID:31717729|PMID:31766501|PMID:31776437|PMID:32005694|PMID:32056211|PMID:32533764|PMID:33673681|PMID:33919865|PMID:34080803|PMID:34427956|PMID:34906502|PMID:8099055|PMID:9536098|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:657 adenoma ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 8973315 Nf1 neurofibromin 1 gene DOID:768 retinoblastoma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:28492532 8973315 Nf1 neurofibromin 1 gene DOID:8712 neurofibromatosis ISO RGD:737471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6 PMID:10678181|PMID:10712197|PMID:14722917|PMID:16199547|PMID:16479075|PMID:16835897|PMID:16941471|PMID:17209131|PMID:17426081|PMID:17551851|PMID:17914445|PMID:18546366|PMID:21354044|PMID:23460398|PMID:23668869|PMID:23913538|PMID:25240281|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26969325|PMID:27069254|PMID:27838393|PMID:28492532|PMID:29872168|PMID:30530636|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31717729|PMID:36988593|PMID:9150739|PMID:9180088 8973315 Nf1 neurofibromin 1 gene DOID:8864 acute monocytic leukemia ISO RGD:737471 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Acute monocytic leukemia PMID:25741868|PMID:28492532|PMID:29290338|PMID:33471991 8973315 Nf1 neurofibromin 1 gene DOID:8927 learning disability ISO RGD:10973 D RGD:9068941 20200609 RGD PMID:11279521|REF_RGD_ID:1302541 8973315 Nf1 neurofibromin 1 gene DOID:8927 learning disability ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21949590 8973315 Nf1 neurofibromin 1 gene DOID:9002182 Cafe au lait Spots, Multiple ISO RGD:737471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cafe au lait spots, multiple PMID:10543400|PMID:10607834|PMID:10678181|PMID:10712197|PMID:10726756|PMID:10862084|PMID:11857752|PMID:12095621|PMID:14722917|PMID:15146469|PMID:1568247|PMID:15846561|PMID:16380919|PMID:16479075|PMID:16513807|PMID:16786508|PMID:16835897|PMID:16941471|PMID:16944272|PMID:17209131|PMID:17406642|PMID:17551851|PMID:17576681|PMID:17914445|PMID:18484666|PMID:18546366|PMID:19142971|PMID:19845691|PMID:21278392|PMID:21354044|PMID:21520333|PMID:22155606|PMID:22190595|PMID:22807134|PMID:23244495|PMID:23404336|PMID:23460398|PMID:23656349|PMID:23668869|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24789688|PMID:25240281|PMID:25325900|PMID:25403449|PMID:25525159|PMID:25741868|PMID:26056819|PMID:26467025|PMID:26478990|PMID:26840085|PMID:26969325|PMID:27069254|PMID:27074763|PMID:27322474|PMID:27716896|PMID:27838393|PMID:28008555|PMID:28492532|PMID:29290338|PMID:29415745|PMID:29673180|PMID:29872168|PMID:30530636|PMID:31370276|PMID:31533651|PMID:31533797|PMID:31595648|PMID:31717729|PMID:31776437|PMID:32107864|PMID:32126153|PMID:32581362|PMID:33443663|PMID:34080803|PMID:35024939|PMID:36988593|PMID:7581973|PMID:7981679|PMID:8264648|PMID:8499944|PMID:8499945|PMID:8669813|PMID:8837715|PMID:9003501|PMID:9150739|PMID:9180088|PMID:9219873|PMID:9475595|PMID:9536098 8973315 Nf1 neurofibromin 1 gene DOID:9002453 Cafe-au-Lait Spots ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:10607834|PMID:10712197|PMID:12112660|PMID:12807981|PMID:16199547|PMID:16835897|PMID:16944272|PMID:17668375|PMID:19738042|PMID:21520333|PMID:22155606|PMID:22190595|PMID:23404336|PMID:23656349|PMID:23913538|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26908603|PMID:26973730|PMID:27171602|PMID:27482814|PMID:28492532|PMID:29089047|PMID:29522274|PMID:31717729|PMID:33372952|PMID:33471991|PMID:34080803 8973315 Nf1 neurofibromin 1 gene DOID:9002498 Wallerian Degeneration ISO RGD:3168 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:8847098|REF_RGD_ID:12790590 8973315 Nf1 neurofibromin 1 gene DOID:9004158 diffuse intrinsic pontine glioma ISO RGD:737471 D RGD:8554872 20220920 ClinVar ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma PMID:25741868|PMID:28492532 8973315 Nf1 neurofibromin 1 gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20176786|PMID:25240281 8973315 Nf1 neurofibromin 1 gene DOID:9005120 Pigmented Nevus ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16306205|PMID:16380919|PMID:16414076|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19292874|PMID:19449407|PMID:19738042|PMID:19845691|PMID:20186797|PMID:20602485|PMID:20605257|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21838856|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24586880|PMID:24654934|PMID:24694336|PMID:24710307|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29089047|PMID:29100083|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29483232|PMID:29489754|PMID:29522274|PMID:29618358|PMID:29673180|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30014477|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30977107|PMID:31159747|PMID:31160754|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746|PMID:32581362 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32860008|PMID:33046013|PMID:33121128|PMID:33443663|PMID:33471991|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16306205|PMID:16380919|PMID:16414076|PMID:16479075|PMID:16513807|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19292874|PMID:19449407|PMID:19738042|PMID:19845691|PMID:20186797|PMID:20602485|PMID:20605257|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21838856|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23913538|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24586880|PMID:24654934|PMID:24694336|PMID:24710307|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25541118|PMID:25612910|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27171602|PMID:27322474|PMID:27482814|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27854218|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29089047|PMID:29100083|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29483232|PMID:29489754|PMID:29522274|PMID:29618358|PMID:29673180|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30014477|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30632835|PMID:30977107|PMID:31159747|PMID:31160754|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31882575|PMID:32107864|PMID:32126153|PMID:32566746 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32581362|PMID:32860008|PMID:33046013|PMID:33121128|PMID:33443663|PMID:33471991|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15523626|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30192042|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31347283|PMID:31370276|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33673681|PMID:33674644|PMID:34080803|PMID:34392670|PMID:34646065|PMID:34782607|PMID:34860164|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11431704|PMID:11459867|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28166811|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32359129|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33674644|PMID:34012022|PMID:34080803|PMID:34392670|PMID:34427956|PMID:34646065|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34988040|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31874108|PMID:31882575|PMID:32052251|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34392670|PMID:34427956|PMID:34489640|PMID:34646065|PMID:34694046|PMID:34782607|PMID:34860164|PMID:34988040|PMID:35091509|PMID:35101336|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20358387|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27854218|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28422438|PMID:28492532 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28529006|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34988040|PMID:35039564|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36988593|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20358387|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555|PMID:28068329|PMID:28130400|PMID:28422438|PMID:28492532|PMID:28529006 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34988040|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36988593|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31874108|PMID:31882575|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34988040|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36988593|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28130400|PMID:28135719|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34988040|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35264596|PMID:35353986|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36988593|PMID:37149759|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10076878|PMID:10090487|PMID:10336779|PMID:10494088|PMID:10543400|PMID:10607834|PMID:10633134|PMID:10677298|PMID:10678181|PMID:10712197|PMID:1071297|PMID:10721668|PMID:10726756|PMID:10862084|PMID:10874316|PMID:10980545|PMID:11115850|PMID:11137998|PMID:11258625|PMID:11292340|PMID:11431704|PMID:11476066|PMID:11704931|PMID:11735023|PMID:11857752|PMID:11967553|PMID:12095621|PMID:12112660|PMID:12387455|PMID:12483293|PMID:12522551|PMID:125305868|PMID:12552569|PMID:12566521|PMID:12746402|PMID:12787671|PMID:12807981|PMID:12872266|PMID:14513407|PMID:14517963|PMID:14569132|PMID:14635100|PMID:14722917|PMID:15060124|PMID:1511985|PMID:15146469|PMID:15207265|PMID:15523626|PMID:15523642|PMID:15627836|PMID:1568246|PMID:1568247|PMID:15833774|PMID:15846561|PMID:15863657|PMID:15948193|PMID:16005615|PMID:16138229|PMID:16199547|PMID:16283621|PMID:16306205|PMID:16380919|PMID:16397625|PMID:16414076|PMID:16461335|PMID:16479075|PMID:16513807|PMID:16527612|PMID:16528606|PMID:16542390|PMID:16544997|PMID:16740526|PMID:16773574|PMID:16786508|PMID:16787982|PMID:16825284|PMID:16835897|PMID:16870183|PMID:16937374|PMID:16941471|PMID:16944272|PMID:16961930|PMID:17103458|PMID:17114577|PMID:17160901|PMID:17187824|PMID:17209131|PMID:17295913|PMID:17311297|PMID:17353900|PMID:17406642|PMID:17426081|PMID:17514731|PMID:17551851|PMID:1757093|PMID:17576681|PMID:17668375|PMID:17712740|PMID:17726231|PMID:1783401|PMID:17914445|PMID:17960768|PMID:18021924|PMID:18041031|PMID:18183640|PMID:18484666|PMID:18503770|PMID:18546366|PMID:18800150|PMID:190611|PMID:19061981|PMID:19076627|PMID:19120036|PMID:19142971|PMID:19221814|PMID:19241459|PMID:19292874|PMID:19321438|PMID:19449407|PMID:19738042|PMID:19823873|PMID:19845691|PMID:19920235|PMID:19935827|PMID:20015894|PMID:20186797|PMID:20301288|PMID:20358387|PMID:20601955|PMID:20602485|PMID:20605257|PMID:20844836|PMID:20927530|PMID:21031597|PMID:21089070|PMID:2114220|PMID:21271658|PMID:21278392|PMID:21280148|PMID:21354044|PMID:21362601|PMID:21394830|PMID:21512413|PMID:21520333|PMID:21532985|PMID:21567923|PMID:21732117|PMID:21838856|PMID:22034633|PMID:22090377|PMID:22105171|PMID:22108604|PMID:22155606|PMID:22190595|PMID:22222937|PMID:22397991|PMID:22426308|PMID:22608206|PMID:22664660|PMID:22703879|PMID:22807134|PMID:22869071|PMID:22911296|PMID:22925204|PMID:22962301|PMID:22965773|PMID:23010473|PMID:23047742|PMID:23244495|PMID:23322702|PMID:23404336|PMID:23407919|PMID:23460398|PMID:23583981|PMID:23621909|PMID:23624750|PMID:23637863|PMID:23656349|PMID:23668869|PMID:23758643|PMID:23781326|PMID:23812910|PMID:23832011|PMID:23906300|PMID:23913538|PMID:23954459|PMID:23999528|PMID:24033266|PMID:24218100|PMID:24232412|PMID:24357598|PMID:24413922|PMID:24448499|PMID:24463508|PMID:24506781|PMID:24586880|PMID:24654934|PMID:24675358|PMID:24676424|PMID:24676943|PMID:24694336|PMID:24710307|PMID:24711935|PMID:24728327|PMID:24789688|PMID:24803665|PMID:24916674|PMID:24922668|PMID:24932921|PMID:24951259|PMID:25074460|PMID:25211147|PMID:25240281|PMID:25293717|PMID:25324867|PMID:25325900|PMID:25326637|PMID:25370043|PMID:25403449|PMID:25480383|PMID:25525159|PMID:25533962|PMID:25541118|PMID:25612910|PMID:25733387|PMID:25741868|PMID:25788518|PMID:25810463|PMID:25877891|PMID:25925892|PMID:25938944|PMID:25966637|PMID:26000329|PMID:26017449|PMID:26056819|PMID:26076063|PMID:26088551|PMID:26155992|PMID:26178382|PMID:26230854|PMID:26275891|PMID:26331193|PMID:26345759|PMID:26380986|PMID:26458495|PMID:26467025|PMID:26478990|PMID:26489445|PMID:26509978|PMID:26510091|PMID:26514327|PMID:26556299|PMID:26580448|PMID:26635368|PMID:26659639|PMID:26706011|PMID:26740943|PMID:26757882|PMID:26758488|PMID:26840085|PMID:26908603|PMID:26962827|PMID:26969325|PMID:26973730|PMID:27060315|PMID:27069254|PMID:27074763|PMID:27153395|PMID:27171602|PMID:27305697|PMID:27313208|PMID:27322474|PMID:27482814|PMID:27493482|PMID:27498913|PMID:27617404|PMID:27716896|PMID:27791021|PMID:27793025|PMID:27838393|PMID:27848944|PMID:27862945|PMID:27980226|PMID:27986441|PMID:27999334|PMID:28008555 8973315 Nf1 neurofibromin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28068329|PMID:28130400|PMID:28135719|PMID:28422438|PMID:28492532|PMID:28518168|PMID:28529006|PMID:28548933|PMID:28706617|PMID:28825729|PMID:28873162|PMID:28891274|PMID:28955729|PMID:28961165|PMID:28976792|PMID:29068549|PMID:29082380|PMID:29089047|PMID:29100083|PMID:29146900|PMID:29281626|PMID:29290338|PMID:29415745|PMID:29449315|PMID:29470806|PMID:29483232|PMID:29489754|PMID:29498099|PMID:29522274|PMID:29566708|PMID:29618358|PMID:29625052|PMID:29673180|PMID:29684080|PMID:29685074|PMID:29758562|PMID:29849115|PMID:29872168|PMID:29908077|PMID:29914388|PMID:29926981|PMID:29952103|PMID:29957862|PMID:30001348|PMID:30008175|PMID:30014477|PMID:30046999|PMID:30086788|PMID:30087692|PMID:30093976|PMID:30104198|PMID:30104415|PMID:30111351|PMID:30190611|PMID:30262796|PMID:30287823|PMID:30290804|PMID:30291346|PMID:30306255|PMID:30308447|PMID:30530636|PMID:30531922|PMID:30632835|PMID:30680046|PMID:30763456|PMID:30784236|PMID:30877234|PMID:30977107|PMID:31066482|PMID:31159747|PMID:31160754|PMID:31201679|PMID:31206626|PMID:31301733|PMID:31308404|PMID:31347283|PMID:31370276|PMID:31371350|PMID:31422574|PMID:31443423|PMID:31474762|PMID:31476437|PMID:31533651|PMID:31533797|PMID:31573083|PMID:31595648|PMID:31717729|PMID:31730495|PMID:31766501|PMID:31776437|PMID:31836666|PMID:31868168|PMID:31874108|PMID:31882575|PMID:31891871|PMID:32005694|PMID:32052251|PMID:32056211|PMID:32091409|PMID:32107864|PMID:32123317|PMID:32126153|PMID:32133419|PMID:32359129|PMID:32427313|PMID:32461654|PMID:32533764|PMID:32554297|PMID:32566746|PMID:32573669|PMID:32575496|PMID:32581362|PMID:32582540|PMID:32743991|PMID:32860008|PMID:32980694|PMID:33020650|PMID:33046013|PMID:33121128|PMID:33231931|PMID:33322618|PMID:33372952|PMID:33443663|PMID:33471991|PMID:33540839|PMID:33562071|PMID:33673681|PMID:33673806|PMID:33674644|PMID:33804961|PMID:33840814|PMID:34012022|PMID:34080803|PMID:34284872|PMID:34392670|PMID:34418705|PMID:34427956|PMID:34489640|PMID:34589056|PMID:34598035|PMID:34646065|PMID:34694046|PMID:34707296|PMID:34782607|PMID:34860164|PMID:34887559|PMID:34906502|PMID:34988040|PMID:35039564|PMID:35066574|PMID:35091509|PMID:35101336|PMID:35240321|PMID:35264596|PMID:35353986|PMID:35698239|PMID:35836575|PMID:35885913|PMID:36243179|PMID:36988593|PMID:37149759|PMID:3943125|PMID:7311297|PMID:7581973|PMID:7607663|PMID:7633431|PMID:7649559|PMID:7655472|PMID:7874161|PMID:7903661|PMID:7904209|PMID:7981679|PMID:7981692|PMID:8069310|PMID:8099055|PMID:8264648|PMID:8385067|PMID:8437860|PMID:8496156|PMID:8499944|PMID:8499945|PMID:8544190|PMID:8628317|PMID:8664912|PMID:8669813|PMID:8807336|PMID:8829638|PMID:8834249|PMID:8837715|PMID:8845843|PMID:8957181|PMID:9003501|PMID:9042399|PMID:9101300|PMID:9109662|PMID:9150739|PMID:9180088|PMID:9195229|PMID:9219684|PMID:9219873|PMID:9298829|PMID:9302992|PMID:9385374|PMID:9463322|PMID:9475595|PMID:9536098|PMID:9544853|PMID:9545275|PMID:9654211|PMID:9668168|PMID:9687500|PMID:9691142|PMID:9783703 8973315 Nf1 neurofibromin 1 gene DOID:9007748 Retinal Neovascularization ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29847659 8973315 Nf1 neurofibromin 1 gene DOID:9007769 Pseudarthrosis ISO RGD:3168 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cartilage" PMID:8820972|REF_RGD_ID:12789703 8973315 Nf1 neurofibromin 1 gene DOID:9007908 Aortic Coarctation ISO RGD:737471 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:10712197|PMID:10862084|PMID:12552569|PMID:15146469|PMID:16199547|PMID:16513807|PMID:16944272|PMID:17576681|PMID:23637863|PMID:23668869|PMID:23758643|PMID:23913538|PMID:24413922|PMID:24654934|PMID:25074460|PMID:25741868|PMID:26088551|PMID:28492532|PMID:28518168|PMID:29290338|PMID:29483232|PMID:29926981|PMID:30287823|PMID:30308447|PMID:30530636|PMID:31160754|PMID:32461654|PMID:36988593|PMID:9536098 8973315 Nf1 neurofibromin 1 gene DOID:9007956 Febrile Seizures ISO RGD:737471 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:21520333|PMID:23656349|PMID:25741868|PMID:28492532|PMID:29089047|PMID:33471991 8973315 Nf1 neurofibromin 1 gene DOID:9008086 Developmental Disabilities ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 8973315 Nf1 neurofibromin 1 gene DOID:9008763 Femoral Fractures ISO RGD:10973 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cartilage" PMID:8820972|REF_RGD_ID:12789703 8973315 Nf1 neurofibromin 1 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:737471 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10712197|PMID:16835897|PMID:16944272|PMID:23913538|PMID:25074460|PMID:25741868|PMID:26467025|PMID:28492532 8973315 Nf1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia ISO RGD:737471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929|PMID:25822087 8973315 Nf1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:737471 D RGD:9068941 20200609 RGD PMID:12518368|REF_RGD_ID:12754447 8973315 Nf1 neurofibromin 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:737471 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:23460398|REF_RGD_ID:12789444 8973315 Nf1 neurofibromin 1 gene DOID:9538 multiple myeloma ISO RGD:737471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8973315 Nf1 neurofibromin 1 gene DOID:962 neurofibroma ISO RGD:737471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurofibroma PMID:10712197|PMID:12807981|PMID:16199547|PMID:16835897|PMID:16944272|PMID:17103458|PMID:17311297|PMID:18546366|PMID:19449407|PMID:21031597|PMID:23758643|PMID:23913538|PMID:25741868|PMID:25788518|PMID:26467025|PMID:26514327|PMID:27074763|PMID:28068329|PMID:28492532|PMID:28955729|PMID:29618358|PMID:30290804|PMID:31476437|PMID:31533651|PMID:31717729|PMID:31766501|PMID:31776437|PMID:32005694|PMID:32056211|PMID:32533764|PMID:32581362|PMID:34080803|PMID:34427956|PMID:34868260|PMID:9783703 8973382 Adam18 ADAM metallopeptidase domain 18 gene DOID:630 genetic disease ISO RGD:1350533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:0050753 cerebellar ataxia ISO RGD:734125 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:33242881|PMID:36746441 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:0060224 atrial fibrillation ISO RGD:734125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:12849 autistic disorder ISO RGD:734125 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:14330 Parkinson's disease ISO RGD:734126 D RGD:9068941 20220825 MouseDO OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:4990 essential tremor ISO RGD:2963 D RGD:9068941 20210806 RGD DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) PMID:28917524|REF_RGD_ID:38508907 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:630 genetic disease ISO RGD:734125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16002581|PMID:25741868|PMID:28917524|PMID:33242881 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:734125 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734125 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33242881 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9004834 Myoclonic Dystonia 34 ISO RGD:734125 D RGD:7240710 20220202 OMIM 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9004834 Myoclonic Dystonia 34 ISO RGD:734125 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Dystonia 34, myoclonic | ClinVar Annotator: match by term: KCNN2-related condition PMID:16002581|PMID:25741868|PMID:32212350 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9007317 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:734125 D RGD:7240710 20220810 OMIM 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9007317 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:734125 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without variable movement or behavioral abnormalities PMID:25741868|PMID:33242881|PMID:36746441 8973442 Kcnn2 potassium calcium-activated channel subfamily N member 2 gene DOID:9008086 Developmental Disabilities ISO RGD:734125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16002581|PMID:25741868|PMID:28492532|PMID:33242881 8973475 Gtf2a1l general transcription factor IIA subunit 1 like gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:1602495 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 8973475 Gtf2a1l general transcription factor IIA subunit 1 like gene DOID:630 genetic disease ISO RGD:1602495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973500 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 8973500 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:0081181 autosomal recessive intellectual developmental disorder 5 ISO RGD:1348039 D RGD:7240710 20180130 OMIM 8973500 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:0081181 autosomal recessive intellectual developmental disorder 5 ISO RGD:1348039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5 PMID:17120046|PMID:17576681|PMID:18414213|PMID:21063731|PMID:22541559|PMID:22541562|PMID:22577224|PMID:25741868|PMID:28492532|PMID:32860008|PMID:33098347|PMID:9536098 8973500 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1348039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532|PMID:33098347 8973500 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1348039 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:22541559|PMID:22577224|PMID:25741868|PMID:28492532|PMID:33098347 8973500 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348039 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17120046|PMID:18414213|PMID:22541559|PMID:22577224|PMID:25741868|PMID:28492532|PMID:33098347 8973500 Nsun2 NOP2/Sun RNA methyltransferase 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1348039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8973522 Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B gene DOID:0080573 congenital disorder of glycosylation Ix ISO RGD:1606939 D RGD:7240710 20180130 OMIM 8973522 Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B gene DOID:0080573 congenital disorder of glycosylation Ix ISO RGD:1606939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x PMID:17576681|PMID:23842455|PMID:25741868|PMID:28492532|PMID:32253875|PMID:9536098 8973522 Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B gene DOID:630 genetic disease ISO RGD:1606939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1342911 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:0060556 Kufor-Rakeb syndrome ISO RGD:1342911 D RGD:7240710 20180130 OMIM 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:0060556 Kufor-Rakeb syndrome ISO RGD:1342911 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Kufor-Rakeb syndrome PMID:12169656|PMID:16199547|PMID:16964263|PMID:17485642|PMID:17576681|PMID:18075584|PMID:18075585|PMID:18414213|PMID:19015489|PMID:19085912|PMID:19360675|PMID:19458722|PMID:19705361|PMID:20137506|PMID:20227461|PMID:20683840|PMID:20816920|PMID:20853184|PMID:20976737|PMID:21060012|PMID:21094623|PMID:21542062|PMID:21665991|PMID:21696388|PMID:21714071|PMID:21724849|PMID:22296644|PMID:22388936|PMID:22743658|PMID:22768177|PMID:22847264|PMID:22995991|PMID:23499937|PMID:23522931|PMID:24088041|PMID:24399444|PMID:25374329|PMID:25466404|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27165006|PMID:27294386|PMID:28137957|PMID:28492532|PMID:28518168|PMID:29163333|PMID:29606608|PMID:29903538|PMID:29966207|PMID:30232368|PMID:30833663|PMID:30868101|PMID:31771779|PMID:31944623|PMID:31996848|PMID:32461654|PMID:32707456|PMID:34382491|PMID:36703223|PMID:495089|PMID:9536098 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:0080855 Parkinsonism ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23046578 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1342911 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16199547|PMID:16964263|PMID:20683840|PMID:21060012|PMID:21665991|PMID:21696388|PMID:21724849|PMID:22296644|PMID:22768177|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29163333|PMID:29966207|PMID:30487145 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1342911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic tetraparesis PMID:25741868 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:0112348 hereditary spastic paraplegia 78 ISO RGD:1342911 D RGD:7240710 20190315 OMIM 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:0112348 hereditary spastic paraplegia 78 ISO RGD:1342911 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ATP13A2-related condition | ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78 PMID:12169656|PMID:16964263|PMID:18075584|PMID:18075585|PMID:18414213|PMID:19085912|PMID:19458722|PMID:19705361|PMID:20683840|PMID:21060012|PMID:21665991|PMID:21696388|PMID:21724849|PMID:22296644|PMID:22442086|PMID:22768177|PMID:25741868|PMID:26467025|PMID:28137957|PMID:28492532|PMID:29966207|PMID:30833663|PMID:34382491|PMID:36703223 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:13548 secondary Parkinson disease ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22285144 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:14330 Parkinson's disease ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23628791|PMID:25149416 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:14330 Parkinson's disease ISO RGD:1342911 D RGD:9068941 20200609 RGD PMID:26223426|REF_RGD_ID:10450518 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:12193025 D RGD:9068941 20230824 OMIA Neuronal ceroid lipofuscinosis, 12 PMID:12061538|PMID:1471473|PMID:15691038|PMID:15771740|PMID:1609844|PMID:18004671|PMID:21362476|PMID:22022275|PMID:28860089|PMID:30956123|PMID:32219101|PMID:33769611|PMID:37582787 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022275|PMID:22847264 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:630 genetic disease ISO RGD:1342911 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12169656|PMID:16199547|PMID:16964263|PMID:17485642|PMID:17576681|PMID:18075584|PMID:18075585|PMID:18414213|PMID:19015489|PMID:19085912|PMID:19360675|PMID:19458722|PMID:19705361|PMID:20137506|PMID:20683840|PMID:20816920|PMID:21060012|PMID:21542062|PMID:21665991|PMID:21696388|PMID:21714071|PMID:21724849|PMID:22296644|PMID:22743658|PMID:22768177|PMID:22995991|PMID:23499937|PMID:24399444|PMID:25374329|PMID:25466404|PMID:25741868|PMID:26467025|PMID:27294386|PMID:28492532|PMID:28518168|PMID:29966207|PMID:30232368|PMID:30746398|PMID:30833663|PMID:31771779|PMID:32461654|PMID:34382491|PMID:9536098 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:9000304 Manganese Poisoning ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22285144 8973560 Atp13a2 ATPase cation transporting 13A2 gene DOID:9002955 Nerve Degeneration ISO RGD:1342911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22847264 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1344563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1344563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1344563 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25569260|PMID:25741868|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1344563 D RGD:7240710 20190710 OMIM 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1344563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:15077010|PMID:16007086|PMID:16007087|PMID:16199547|PMID:16299065|PMID:16618819|PMID:16630947|PMID:16782407|PMID:16899196|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17464555|PMID:17492055|PMID:17556024|PMID:17576681|PMID:17697196|PMID:17947292|PMID:17983875|PMID:18200502|PMID:18496551|PMID:18509552|PMID:18954329|PMID:18978466|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19605846|PMID:19629655|PMID:19779048|PMID:20156508|PMID:20652909|PMID:20676093|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21675890|PMID:21724465|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22922270|PMID:22983507|PMID:23225259|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25205549|PMID:25326637|PMID:25569260|PMID:25741868|PMID:25959671|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29077208|PMID:29114388|PMID:29146883|PMID:29531467|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30090215|PMID:30290665|PMID:30301590|PMID:30665703|PMID:30723478|PMID:30739909|PMID:30993493|PMID:31203817|PMID:31530980|PMID:31618753|PMID:31681265|PMID:32135276|PMID:32185379|PMID:32499645|PMID:32581362|PMID:33046446|PMID:33258288|PMID:33425813|PMID:33726816|PMID:33859323|PMID:34093558|PMID:34426522|PMID:34441032|PMID:34573280|PMID:34975878|PMID:8072530|PMID:9536098 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1344563 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:11162 respiratory failure ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Respiratory failure PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:11701 selective IgA deficiency disease ISO RGD:1344563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IgAD1 PMID:17697196|PMID:18200502|PMID:18978466|PMID:18981294|PMID:19629655|PMID:21419480|PMID:21458042|PMID:21850030|PMID:22627058|PMID:22697072|PMID:22884984|PMID:25741868|PMID:27123465|PMID:28492532|PMID:30290665|PMID:31681265|PMID:34975878 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:11836 clubfoot ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital Talipes Equinovarus PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:12177 common variable immunodeficiency ISO RGD:1344563 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset PMID:15077010|PMID:16007086|PMID:16007087|PMID:16299065|PMID:16630947|PMID:16782407|PMID:16899196|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17464555|PMID:17492055|PMID:17556024|PMID:17697196|PMID:17947292|PMID:17983875|PMID:18200502|PMID:18496551|PMID:18509552|PMID:18978466|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19605846|PMID:19629655|PMID:19779048|PMID:20156508|PMID:20676093|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21675890|PMID:21724465|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29077208|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30090215|PMID:30290665|PMID:30665703|PMID:30723478|PMID:30739909|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33046446|PMID:33258288|PMID:33726816|PMID:34426522|PMID:34975878|PMID:8072530 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:12849 autistic disorder ISO RGD:1344563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:13832 patent ductus arteriosus ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Patency of the ductus arteriosus PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:1826 epilepsy ISO RGD:1344563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:17464555|PMID:20652909|PMID:25741868|PMID:28492532|PMID:33859323|PMID:34441032 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:2256 osteochondrodysplasia ISO RGD:1344563 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:3082 interstitial lung disease ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:630 genetic disease ISO RGD:1344563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:674 cleft palate ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:850 lung disease ISO RGD:1344563 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chronic lung disease PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9000998 Brain Injuries ISO RGD:1344563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9001895 Immunoglobulin A Deficiency 2 ISO RGD:1344563 D RGD:7240710 20180130 OMIM 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9001895 Immunoglobulin A Deficiency 2 ISO RGD:1344563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IgA, selective deficiency of, TACI related | ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 PMID:15077010|PMID:16007086|PMID:16007087|PMID:16299065|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17947292|PMID:17983875|PMID:18496551|PMID:18509552|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19605846|PMID:19629655|PMID:19779048|PMID:20156508|PMID:20676093|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23225259|PMID:23237420|PMID:23956760|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26046366|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30301590|PMID:30665703|PMID:30723478|PMID:30739909|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33046446|PMID:33258288|PMID:33726816|PMID:34426522|PMID:8072530 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9003788 Immune Deficiency, Familial Variable ISO RGD:1344563 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Immune deficiency, familial variable PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9005616 Micrognathism ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9007769 Pseudarthrosis ISO RGD:1344563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pseudoarthrosis PMID:16007086|PMID:16007087|PMID:16630947|PMID:16782407|PMID:17192819|PMID:17392797|PMID:17392798|PMID:17492055|PMID:17983875|PMID:18981294|PMID:19210517|PMID:19392801|PMID:19629655|PMID:19779048|PMID:20889194|PMID:21419480|PMID:21458042|PMID:21547394|PMID:21850030|PMID:22076597|PMID:22627058|PMID:22697072|PMID:22699762|PMID:22884984|PMID:22983507|PMID:23237420|PMID:24033266|PMID:24051380|PMID:25174870|PMID:25326637|PMID:25741868|PMID:26100089|PMID:26122175|PMID:26727773|PMID:27123465|PMID:27379089|PMID:27577878|PMID:28492532|PMID:29114388|PMID:29146883|PMID:29555771|PMID:29867916|PMID:29921932|PMID:30665703|PMID:30723478|PMID:31203817|PMID:31618753|PMID:31681265|PMID:32499645|PMID:32581362|PMID:33258288 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9074 systemic lupus erythematosus ISO RGD:1618388 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8973596 Tnfrsf13b TNF receptor superfamily member 13B gene DOID:9538 multiple myeloma ISO RGD:1344563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955597 8973606 Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1604590 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8973606 Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:1059 intellectual disability ISO RGD:1604590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8973606 Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 gene DOID:630 genetic disease ISO RGD:1604590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973629 Mroh1 maestro heat like repeat family member 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:2302193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8973629 Mroh1 maestro heat like repeat family member 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:2302193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8973629 Mroh1 maestro heat like repeat family member 1 gene DOID:4621 holoprosencephaly ISO RGD:2302193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8973629 Mroh1 maestro heat like repeat family member 1 gene DOID:630 genetic disease ISO RGD:2302193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973677 Gtf3c2 general transcription factor IIIC subunit 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8973677 Gtf3c2 general transcription factor IIIC subunit 2 gene DOID:630 genetic disease ISO RGD:1343562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973700 Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:0060001 withdrawal disorder severity ISO RGD:2769 D RGD:9068941 20231221 RGD PMID:23113297|REF_RGD_ID:401938657 8973700 Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:10652 Alzheimer's disease ISO RGD:731814 D RGD:9068941 20200609 RGD PMID:15571982|REF_RGD_ID:10401946 8973700 Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:630 genetic disease ISO RGD:731814 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973700 Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:731814 D RGD:9068941 20200609 RGD PMID:15571982|REF_RGD_ID:10401946 8973745 Stag2 STAG2 cohesin complex component gene DOID:0050908 myelodysplastic syndrome ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 8973745 Stag2 STAG2 cohesin complex component gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1343297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 8973745 Stag2 STAG2 cohesin complex component gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8973745 Stag2 STAG2 cohesin complex component gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 8973745 Stag2 STAG2 cohesin complex component gene DOID:0111845 Mullegama-Klein-Martinez syndrome ISO RGD:1343297 D RGD:7240710 20190424 OMIM 8973745 Stag2 STAG2 cohesin complex component gene DOID:0111845 Mullegama-Klein-Martinez syndrome ISO RGD:1343297 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome | ClinVar Annotator: match by term: STAG2-related disorder PMID:25741868|PMID:28296084|PMID:28492532|PMID:29263825|PMID:30158690|PMID:30447054|PMID:30765867|PMID:31334757|PMID:33619735 8973745 Stag2 STAG2 cohesin complex component gene DOID:11054 urinary bladder cancer ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121789|PMID:24121791|PMID:24121792 8973745 Stag2 STAG2 cohesin complex component gene DOID:12849 autistic disorder ISO RGD:1343297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8973745 Stag2 STAG2 cohesin complex component gene DOID:2671 transitional cell carcinoma ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 8973745 Stag2 STAG2 cohesin complex component gene DOID:630 genetic disease ISO RGD:1343297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8973745 Stag2 STAG2 cohesin complex component gene DOID:8692 myeloid leukemia ISO RGD:1343297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23955599 8973745 Stag2 STAG2 cohesin complex component gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1343297 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 8973745 Stag2 STAG2 cohesin complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343297 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8973745 Stag2 STAG2 cohesin complex component gene DOID:9008492 Holoprosencephaly 13 ISO RGD:1343297 D RGD:7240710 20200429 OMIM 8973745 Stag2 STAG2 cohesin complex component gene DOID:9008492 Holoprosencephaly 13 ISO RGD:1343297 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked | ClinVar Annotator: match by term: STAG2-related condition PMID:25741868|PMID:28296084|PMID:28492532|PMID:31334757 8973790 Ubap2l ubiquitin associated protein 2 like gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8973790 Ubap2l ubiquitin associated protein 2 like gene DOID:0111940 immunodeficiency 42 ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8973790 Ubap2l ubiquitin associated protein 2 like gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8973790 Ubap2l ubiquitin associated protein 2 like gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1354268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8973790 Ubap2l ubiquitin associated protein 2 like gene DOID:1540 parathyroid carcinoma ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8973790 Ubap2l ubiquitin associated protein 2 like gene DOID:5812 MHC class II deficiency ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8973790 Ubap2l ubiquitin associated protein 2 like gene DOID:630 genetic disease ISO RGD:1354268 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8973790 Ubap2l ubiquitin associated protein 2 like gene DOID:9005697 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES ISO RGD:1354268 D RGD:7240710 20230920 OMIM 8973790 Ubap2l ubiquitin associated protein 2 like gene DOID:9005697 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES ISO RGD:1354268 D RGD:8554872 20230926 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies PMID:35977029 8973790 Ubap2l ubiquitin associated protein 2 like gene DOID:9008086 Developmental Disabilities ISO RGD:1354268 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:35977029 8973790 Ubap2l ubiquitin associated protein 2 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8973871 Actr2 actin related protein 2 gene DOID:0080199 colorectal carcinoma severity ISO RGD:1321952 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:14990971|REF_RGD_ID:11570560 8973871 Actr2 actin related protein 2 gene DOID:630 genetic disease ISO RGD:1321952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973871 Actr2 actin related protein 2 gene DOID:850 lung disease ISO RGD:1321952 D RGD:9068941 20231102 RGD mRNA:decreased expression:lung (human) PMID:37731513|REF_RGD_ID:401851918 8973871 Actr2 actin related protein 2 gene DOID:9000998 Brain Injuries ISO RGD:1310826 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampus (rat) PMID:22120305|REF_RGD_ID:11530046 8973871 Actr2 actin related protein 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:1310826 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cortex of kidney (rat) PMID:19617259|REF_RGD_ID:11530057 8973886 Dkk2 dickkopf WNT signaling pathway inhibitor 2 gene DOID:630 genetic disease ISO RGD:1344026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973938 Lypd4 LY6/PLAUR domain containing 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8973938 Lypd4 LY6/PLAUR domain containing 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8973938 Lypd4 LY6/PLAUR domain containing 4 gene DOID:2340 craniosynostosis ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8973938 Lypd4 LY6/PLAUR domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1602183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8973938 Lypd4 LY6/PLAUR domain containing 4 gene DOID:630 genetic disease ISO RGD:1602183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973938 Lypd4 LY6/PLAUR domain containing 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8973938 Lypd4 LY6/PLAUR domain containing 4 gene DOID:9269 maple syrup urine disease ISO RGD:1602183 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8973961 Abhd6 abhydrolase domain containing 6, acylglycerol lipase gene DOID:630 genetic disease ISO RGD:1351429 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973961 Abhd6 abhydrolase domain containing 6, acylglycerol lipase gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1351429 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 8973974 Gtse1 G2 and S-phase expressed 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1350308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8973974 Gtse1 G2 and S-phase expressed 1 gene DOID:0080600 COVID-19 ISO RGD:1350308 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8973974 Gtse1 G2 and S-phase expressed 1 gene DOID:1059 intellectual disability ISO RGD:1350308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8973974 Gtse1 G2 and S-phase expressed 1 gene DOID:630 genetic disease ISO RGD:1350308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8973974 Gtse1 G2 and S-phase expressed 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1350308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8973994 Ppp1r11 protein phosphatase 1 regulatory inhibitor subunit 11 gene DOID:11372 megacolon ISO RGD:1350582 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8973994 Ppp1r11 protein phosphatase 1 regulatory inhibitor subunit 11 gene DOID:630 genetic disease ISO RGD:1350582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974021 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351030 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8974021 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8974021 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8974021 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:2340 craniosynostosis ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8974021 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:630 genetic disease ISO RGD:1351030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974021 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8974021 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:9269 maple syrup urine disease ISO RGD:1351030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8974021 Eid2 EP300 interacting inhibitor of differentiation 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351030 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8974028 Tbc1d7 TBC1 domain family member 7 gene DOID:0112206 developmental and epileptic encephalopathy 70 ISO RGD:1316981 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 PMID:23033978|PMID:25741868|PMID:30256902|PMID:33463715 8974028 Tbc1d7 TBC1 domain family member 7 gene DOID:630 genetic disease ISO RGD:1316981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974028 Tbc1d7 TBC1 domain family member 7 gene DOID:9003816 Macrocephaly ISO RGD:1316981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly 8974028 Tbc1d7 TBC1 domain family member 7 gene DOID:9005840 Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive ISO RGD:1316981 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Macrocephaly/megalencephaly syndrome, autosomal recessive PMID:23687350|PMID:24515783|PMID:25741868|PMID:28492532 8974071 Foxs1 forkhead box S1 gene DOID:630 genetic disease ISO RGD:1321722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974076 Znf484 zinc finger protein 484 gene DOID:630 genetic disease ISO RGD:1350077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974085 Znf516 zinc finger protein 516 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1343458 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8974085 Znf516 zinc finger protein 516 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1343458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8974085 Znf516 zinc finger protein 516 gene DOID:1059 intellectual disability ISO RGD:1343458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8974085 Znf516 zinc finger protein 516 gene DOID:630 genetic disease ISO RGD:1343458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974085 Znf516 zinc finger protein 516 gene DOID:6420 pulmonary valve stenosis ISO RGD:1343458 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8974085 Znf516 zinc finger protein 516 gene DOID:8445 intestinal volvulus ISO RGD:1343458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8974085 Znf516 zinc finger protein 516 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1343458 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8974085 Znf516 zinc finger protein 516 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8974085 Znf516 zinc finger protein 516 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1343458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8974109 Tpgs2 tubulin polyglutamylase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1321554 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8974109 Tpgs2 tubulin polyglutamylase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974136 Slc25a26 solute carrier family 25 member 26 gene DOID:0111470 combined oxidative phosphorylation deficiency 28 ISO RGD:1318797 D RGD:7240710 20190315 OMIM 8974136 Slc25a26 solute carrier family 25 member 26 gene DOID:0111470 combined oxidative phosphorylation deficiency 28 ISO RGD:1318797 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28 PMID:25741868|PMID:26522469|PMID:28492532 8974136 Slc25a26 solute carrier family 25 member 26 gene DOID:630 genetic disease ISO RGD:1318797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26522469|PMID:28492532 8974136 Slc25a26 solute carrier family 25 member 26 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1318797 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:25741868 8974164 Sri sorcin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8974164 Sri sorcin gene DOID:6000 congestive heart failure ISO RGD:1584485 D RGD:9068941 20200609 RGD associated with Hypertension PMID:12754254|REF_RGD_ID:7327200 8974164 Sri sorcin gene DOID:6000 congestive heart failure ISO RGD:1584485 D RGD:9068941 20200609 RGD protein:decreased expression:cardiac muscle cell PMID:20945956|REF_RGD_ID:7327198 8974164 Sri sorcin gene DOID:630 genetic disease ISO RGD:1603229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974164 Sri sorcin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603229 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8974164 Sri sorcin gene DOID:9003936 Cardiomegaly ISO RGD:1621397 D RGD:9068941 20200609 RGD PMID:11485922|REF_RGD_ID:7327201 8974164 Sri sorcin gene DOID:9004657 Weight Gain ISO RGD:1603229 D RGD:9068941 20220114 CTD CTD Direct Evidence: therapeutic PMID:33930463 8974181 Cdh20 cadherin 20 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1313468 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8974181 Cdh20 cadherin 20 gene DOID:11193 syndactyly ISO RGD:1313468 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868 8974181 Cdh20 cadherin 20 gene DOID:630 genetic disease ISO RGD:1313468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974206 Mospd3 motile sperm domain containing 3 gene DOID:1682 congenital heart disease ISO RGD:1312723 D RGD:9068941 20200609 RGD PMID:15533722|REF_RGD_ID:1582660 8974206 Mospd3 motile sperm domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8974206 Mospd3 motile sperm domain containing 3 gene DOID:630 genetic disease ISO RGD:1312722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:0050873 follicular lymphoma ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:1615155 D RGD:9068941 20220128 RGD PMID:27253414|REF_RGD_ID:151347600 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:0080600 COVID-19 ISO RGD:1351803 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome 1 ISO RGD:1351803 D RGD:7240710 20190315 OMIM 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:0080944 familial Behcet-like autoinflammatory syndrome 1 ISO RGD:1351803 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like 1 | ClinVar Annotator: match by term: TNFAIP3-related condition PMID:24728327|PMID:25741868|PMID:26642243|PMID:28492532|PMID:29241730|PMID:30810840|PMID:31353537|PMID:31625129|PMID:31795558|PMID:32441320|PMID:32666380|PMID:33549127 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:12894 Sjogren's syndrome ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097066|PMID:24097067 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:1612 breast cancer ameliorates ISO RGD:1351803 D RGD:9068941 20220128 RGD associated with Neoplasm Metastasis; human cells in mouse model PMID:28892081|REF_RGD_ID:151347436 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:219 colon cancer ISO RGD:1351803 D RGD:9068941 20220128 RGD protein:decreased expression:colon (human) PMID:27991929|REF_RGD_ID:151347529 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:219 colon cancer ISO RGD:1351803 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:colon (human) PMID:24099634|REF_RGD_ID:151347624 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:219 colon cancer treatment ISO RGD:1615155 D RGD:9068941 20220128 RGD associated with Experimental Colitis PMID:27991929|REF_RGD_ID:151347529 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:2377 multiple sclerosis ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24076602 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA,protein:increased expression:esophagus squamous epithelium (human) PMID:28197630|REF_RGD_ID:151347617 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:417 autoimmune disease ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:4947 cholangiocarcinoma severity ISO RGD:1351803 D RGD:9068941 20220128 RGD protein:increased expression:bile duct (human) PMID:26485275|REF_RGD_ID:11250478 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:5041 esophageal cancer disease_progression ISO RGD:1351803 D RGD:9068941 20220128 RGD DNA:SNP:intron 6: (rs610604) (human) PMID:25354935|REF_RGD_ID:151347597 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:5041 esophageal cancer severity ISO RGD:1351803 D RGD:9068941 20220128 RGD DNA:SNP:3'utr: (rs583522) (human) PMID:26598072|REF_RGD_ID:11075880 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:5517 stomach carcinoma ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA,protein:increased expression:stomach (human) PMID:31153693|REF_RGD_ID:151347607 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:630 genetic disease ISO RGD:1351803 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA:decreased expression:liver (human) PMID:29190981|REF_RGD_ID:151347622 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma ISO RGD:1351803 D RGD:9068941 20220128 RGD protein:decreased expression:liver (human) PMID:32015333|REF_RGD_ID:151347604 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA,protein:increased expression:liver (human) PMID:26538215|REF_RGD_ID:151347618 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:684 hepatocellular carcinoma sexual_dimorphism ISO RGD:1615155 D RGD:9068941 20220128 RGD PMID:27253414|REF_RGD_ID:151347600 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18794853|PMID:20453842|PMID:21841782|PMID:23143596|PMID:30224649 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:8577 ulcerative colitis severity ISO RGD:1351803 D RGD:9068941 20220128 RGD mRNA,protein:increased expression, decreased expression:colonic mucosa (human) PMID:28842689|REF_RGD_ID:151347619 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:8893 psoriasis ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:20953190 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1351803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:9005372 Inflammation ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24453940 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1351803 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:24728327|PMID:25741868|PMID:26642243|PMID:28492532 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:9006364 Hereditary Autoinflammatory Diseases ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26642243 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1351803 D RGD:9068941 20220128 RGD DNA:SNP,haplotypes: (rs148314165, rs200820567) (human) PMID:28784141|REF_RGD_ID:151347613 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1351803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19165918|PMID:19165919|PMID:19838193|PMID:21336280 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:9256 colorectal cancer severity ISO RGD:1351803 D RGD:9068941 20220128 RGD DNA:SNP:3'utr: (rs6920220) (human) PMID:22843550|REF_RGD_ID:151347611 8974223 Tnfaip3 TNF alpha induced protein 3 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:1351803 D RGD:9068941 20220128 RGD PMID:26149137|REF_RGD_ID:151347434 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1350769 D RGD:9068941 20240229 RGD DNA:SNPs:intron 1: (rs886003, rs17862325) (human) PMID:25978827|REF_RGD_ID:11070870 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:0080855 Parkinsonism ISO RGD:619858 D RGD:9068941 20200609 RGD PMID:22546615|REF_RGD_ID:6771180 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:10283 prostate cancer ISO RGD:1350769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138692 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1350769 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:22138692|REF_RGD_ID:6484664 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:11832 visual epilepsy ISO RGD:619858 D RGD:9068941 20200609 RGD PMID:17434465|REF_RGD_ID:6771182 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:12849 autistic disorder ISO RGD:1350769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12676915 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:12849 autistic disorder susceptibility ISO RGD:1350769 D RGD:9068941 20200806 RGD DNA:SNPs, haplotypes:intron 8, exon 10, 3'utr: (rs2237731, rs712723, rs1800656) (human) PMID:12676915|REF_RGD_ID:1358645 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:1824 status epilepticus ISO RGD:731666 D RGD:9068941 20200609 RGD PMID:17430409|REF_RGD_ID:6771183 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:1826 epilepsy ISO RGD:619858 D RGD:9068941 20200609 RGD PMID:17940877|REF_RGD_ID:6484665 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:2030 anxiety disorder ISO RGD:1350769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17434465 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:2377 multiple sclerosis ISO RGD:1350769 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte, microglia, macrophage PMID:15589052|REF_RGD_ID:6771187 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:5409 lung small cell carcinoma ISO RGD:1350769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:5419 schizophrenia ISO RGD:1350769 D RGD:9068941 20200609 RGD PMID:15211621|REF_RGD_ID:6484666 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:630 genetic disease ISO RGD:1350769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:9000998 Brain Injuries ISO RGD:1350769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:9001048 Nociceptive Pain ISO RGD:731666 D RGD:9068941 20200609 RGD PMID:17113112|REF_RGD_ID:6771186 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:9002211 Hyperalgesia ISO RGD:731666 D RGD:9068941 20200609 RGD PMID:17113112|REF_RGD_ID:6771186 8974237 Grm8 glutamate metabotropic receptor 8 gene DOID:9007402 Gliosis ISO RGD:1350769 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11226630 8974264 Krt10 keratin 10 gene DOID:0060877 bullous congenital ichthyosiform erythroderma ISO RGD:1354394 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma PMID:1381287|PMID:21271994|PMID:22930352|PMID:25741868|PMID:26176760|PMID:28492532|PMID:28532675|PMID:32045015|PMID:7508181|PMID:7509230|PMID:7512983 8974264 Krt10 keratin 10 gene DOID:0081359 epidermolytic hyperkeratosis 2 ISO RGD:1354394 D RGD:7240710 20230517 OMIM 8974264 Krt10 keratin 10 gene DOID:161 keratosis ISO RGD:1354394 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35363433 8974264 Krt10 keratin 10 gene DOID:1749 squamous cell carcinoma ISO RGD:1354394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8974264 Krt10 keratin 10 gene DOID:2773 contact dermatitis ISO RGD:1354394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8974264 Krt10 keratin 10 gene DOID:4323 epidermolytic acanthoma ISO RGD:1354394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolytic acanthoma PMID:1381287|PMID:21271994|PMID:22930352|PMID:25741868|PMID:26176760|PMID:28492532|PMID:28532675|PMID:32045015|PMID:7508181|PMID:7509230|PMID:7512983 8974264 Krt10 keratin 10 gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1354394 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma PMID:1380725|PMID:1381287|PMID:14705805|PMID:15583602|PMID:16505000|PMID:19474805|PMID:20302579|PMID:21271994|PMID:2182100|PMID:22930352|PMID:24001792|PMID:25741868|PMID:26176760|PMID:28492532|PMID:28532675|PMID:32045015|PMID:7508181|PMID:7509230|PMID:7512983|PMID:7526210 8974264 Krt10 keratin 10 gene DOID:4603 epidermolytic hyperkeratosis susceptibility ISO RGD:1354394 D RGD:9068941 20200609 RGD DNA:mutations:cds: p.R156C (human) PMID:7512983|REF_RGD_ID:1600168 8974264 Krt10 keratin 10 gene DOID:630 genetic disease ISO RGD:1354394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8974264 Krt10 keratin 10 gene DOID:9000839 Ichthyosis Hystrix Gravior ISO RGD:1354394 D RGD:7240710 20221214 OMIM 8974264 Krt10 keratin 10 gene DOID:9004464 Skin Neoplasms ISO RGD:1354394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18572023 8974264 Krt10 keratin 10 gene DOID:9004887 Annular Epidermolytic Ichthyosis 1 ISO RGD:1354394 D RGD:7240710 20180130 OMIM 8974264 Krt10 keratin 10 gene DOID:9005778 Annular Epidermolytic Ichthyosis ISO RGD:1354394 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Annular epidermolytic ichthyosis PMID:1381287|PMID:21271994|PMID:22035476|PMID:22930352|PMID:25741868|PMID:26176760|PMID:28492532|PMID:28532675|PMID:32045015|PMID:7508181|PMID:7509230|PMID:7512983 8974264 Krt10 keratin 10 gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1354394 D RGD:7240710 20180130 OMIM 8974264 Krt10 keratin 10 gene DOID:9006224 Reticular Erythrokeratoderma ISO RGD:1354394 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma PMID:1381287|PMID:20798280|PMID:21271994|PMID:22930352|PMID:25210931|PMID:25741868|PMID:26176760|PMID:27208707|PMID:27291450|PMID:28492532|PMID:28532675|PMID:31638346|PMID:32045015|PMID:32407542|PMID:34008892|PMID:7508181|PMID:7509230|PMID:7512983|PMID:9418775 8974264 Krt10 keratin 10 gene DOID:9007964 Arsenic Poisoning ISO RGD:1354394 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19953893 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:1148 polydactyly ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:11612 polycystic ovary syndrome ISO RGD:731735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:12270 coloboma ISO RGD:731735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ocular coloboma PMID:15142123|PMID:23180570|PMID:25741868|PMID:28492532|PMID:2998465 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:13269 hereditary coproporphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CPO deficiency | ClinVar Annotator: match by term: Hereditary coproporphyria PMID:22958180|PMID:25741868|PMID:28492532 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:13270 erythropoietic protoporphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ferrochelatase deficiency PMID:22958180|PMID:28492532 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:3133 acute porphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acute Porphyria PMID:22958180|PMID:28492532 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:3890 acute intermittent porphyria ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency PMID:22958180|PMID:24281366|PMID:25741868|PMID:28492532 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:4346 variegate porphyria ISO RGD:731735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Variegate porphyria PMID:22958180|PMID:24281366|PMID:25741868|PMID:28492532 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:630 genetic disease ISO RGD:731735 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:9002801 Recurrence ISO RGD:731735 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:9002999 Isolated Microphthalmia with Coloboma 7 ISO RGD:731735 D RGD:7240710 20180130 OMIM 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:9002999 Isolated Microphthalmia with Coloboma 7 ISO RGD:731735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7 PMID:15142123|PMID:19504436|PMID:22226084|PMID:23180570|PMID:24281366|PMID:25741868|PMID:28492532|PMID:2998465 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:9004435 Erythropoietic Protoporphyria 1 ISO RGD:731735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 PMID:22958180|PMID:24281366|PMID:25741868|PMID:28492532 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:9004547 Thyroid Neoplasms ISO RGD:731735 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:9006892 Dyschromatosis Universalis Hereditaria 3 ISO RGD:731735 D RGD:7240710 20180130 OMIM 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:9006892 Dyschromatosis Universalis Hereditaria 3 ISO RGD:731735 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 3 PMID:15142123|PMID:23180570|PMID:23519333|PMID:24224009|PMID:25741868|PMID:28492532|PMID:2998465 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:9008443 Colorectal Neoplasms ISO RGD:731735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:731735 D RGD:7240710 20180130 OMIM 8974282 Abcb6 ATP binding cassette subfamily B member 6 (LAN blood group) gene DOID:9008560 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak ISO RGD:731735 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CRYOHYDROCYTOSIS, MILD | ClinVar Annotator: match by term: Pseudohyperkalemia, familial, 2, due to red cell leak PMID:11918557|PMID:15142123|PMID:23180570|PMID:24947683|PMID:25741868|PMID:27151991|PMID:2766660|PMID:28492532|PMID:2998465|PMID:6123793 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:0050526 Gamstorp-Wohlfart syndrome ISO RGD:1606034 D RGD:7240710 20180130 OMIM 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:0050526 Gamstorp-Wohlfart syndrome ISO RGD:1606034 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal neuropathy with neuromyotonia PMID:16199547|PMID:16835243|PMID:17576681|PMID:1851512|PMID:22961002|PMID:24105373|PMID:25342199|PMID:25741868|PMID:26059562|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:31088288|PMID:31400136|PMID:31673878|PMID:31832804|PMID:31848916|PMID:33369814|PMID:33663550|PMID:33726816|PMID:34694653|PMID:9536098 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:0050742 nicotine dependence ISO RGD:1606034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20514075 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:0080000 muscular disease ISO RGD:1606034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22961002 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1606034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:22961002|PMID:24105373|PMID:25342199|PMID:25741868|PMID:28492532|PMID:29787766|PMID:31673878 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1606034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:5419 schizophrenia ISO RGD:1606034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17203012|PMID:20514075 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:574 peripheral nervous system disease ISO RGD:1606034 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22961002|PMID:25342199|PMID:25741868|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:34694653 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:630 genetic disease ISO RGD:1606034 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1851512|PMID:22961002|PMID:25342199|PMID:25741868|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:31832804|PMID:33726816|PMID:34694653 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:7319 axonal neuropathy ISO RGD:1606034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory axonal neuropathy 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:870 neuropathy ISO RGD:1606034 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22961002|PMID:25342199|PMID:25741868|PMID:26182879|PMID:27549087|PMID:28492532|PMID:29787766|PMID:34694653 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:9006079 Inherited Peripheral Neuropathy ISO RGD:1606034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22961002 8974305 Hint1 histidine triad nucleotide binding protein 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606034 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8974312 Spata13 spermatogenesis associated 13 gene DOID:5419 schizophrenia ISO RGD:1316520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8974312 Spata13 spermatogenesis associated 13 gene DOID:630 genetic disease ISO RGD:1316520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974328 Rpl27a ribosomal protein L27a gene DOID:0050753 cerebellar ataxia ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21674502 8974328 Rpl27a ribosomal protein L27a gene DOID:12450 pancytopenia ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21674502 8974328 Rpl27a ribosomal protein L27a gene DOID:3910 lung adenocarcinoma ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8974328 Rpl27a ribosomal protein L27a gene DOID:630 genetic disease ISO RGD:1320286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974328 Rpl27a ribosomal protein L27a gene DOID:9003984 Hyperpigmentation ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21674502 8974328 Rpl27a ribosomal protein L27a gene DOID:9006205 Animal Disease Models ISO RGD:1320286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8974346 Nox1 NADPH oxidase 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:732308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very early onset inflammatory bowel disease PMID:28492532|PMID:30709874 8974346 Nox1 NADPH oxidase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8974346 Nox1 NADPH oxidase 1 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:732308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:23712037|PMID:27179713|PMID:28492532|PMID:29377098 8974346 Nox1 NADPH oxidase 1 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:732308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 8974346 Nox1 NADPH oxidase 1 gene DOID:0080685 aortic dissection ameliorates ISO RGD:732309 D RGD:9068941 20230720 RGD PMID:17502491|REF_RGD_ID:329955571 8974346 Nox1 NADPH oxidase 1 gene DOID:0081292 traumatic brain injury ISO RGD:620598 D RGD:9068941 20230727 RGD protein:increased expression:cerebral cortex PMID:27614125|REF_RGD_ID:329961568 8974346 Nox1 NADPH oxidase 1 gene DOID:10230 aortic atherosclerosis ameliorates ISO RGD:732309 D RGD:9068941 20230720 RGD associated with type 1 diabetes mellitus; PMID:32533834|REF_RGD_ID:329955566 8974346 Nox1 NADPH oxidase 1 gene DOID:10763 hypertension ameliorates ISO RGD:732309 D RGD:9068941 20230720 RGD PMID:16246966|REF_RGD_ID:329955580 8974346 Nox1 NADPH oxidase 1 gene DOID:12849 autistic disorder ISO RGD:732308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8974346 Nox1 NADPH oxidase 1 gene DOID:14330 Parkinson's disease ameliorates ISO RGD:620598 D RGD:9068941 20230727 RGD PMID:23077033|REF_RGD_ID:329961565 8974346 Nox1 NADPH oxidase 1 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:620598 D RGD:9068941 20230713 RGD PMID:25617620|REF_RGD_ID:329955357 8974346 Nox1 NADPH oxidase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620598 D RGD:9068941 20230720 RGD PMID:30816157|REF_RGD_ID:329955567 8974346 Nox1 NADPH oxidase 1 gene DOID:6000 congestive heart failure ISO RGD:732308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 8974346 Nox1 NADPH oxidase 1 gene DOID:630 genetic disease ISO RGD:732308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974346 Nox1 NADPH oxidase 1 gene DOID:6432 pulmonary hypertension ISO RGD:620598 D RGD:9068941 20230720 RGD mRNA,protein:increased expression:lung PMID:23706097|REF_RGD_ID:329955579 8974346 Nox1 NADPH oxidase 1 gene DOID:6432 pulmonary hypertension ISO RGD:732309 D RGD:9068941 20230713 RGD PMID:24233492|REF_RGD_ID:329955359 8974346 Nox1 NADPH oxidase 1 gene DOID:6432 pulmonary hypertension ameliorates ISO RGD:620598 D RGD:9068941 20230713 RGD PMID:24233492|REF_RGD_ID:329955359 8974346 Nox1 NADPH oxidase 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:620598 D RGD:9068941 20230713 RGD PMID:27401289|REF_RGD_ID:329955361 8974346 Nox1 NADPH oxidase 1 gene DOID:8725 vascular dementia treatment ISO RGD:620598 D RGD:9068941 20230720 RGD PMID:24294978|REF_RGD_ID:329955573 8974346 Nox1 NADPH oxidase 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:732308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20832062 8974346 Nox1 NADPH oxidase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:732308 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20715105 8974346 Nox1 NADPH oxidase 1 gene DOID:9004484 Sepsis ameliorates ISO RGD:732309 D RGD:9068941 20230713 RGD PMID:22982050|REF_RGD_ID:329955362 8974346 Nox1 NADPH oxidase 1 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620598 D RGD:9068941 20230713 RGD PMID:34244746|REF_RGD_ID:329955363 8974346 Nox1 NADPH oxidase 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:732308 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:peripheral blood mononuclear cell (human) PMID:16380495|REF_RGD_ID:1580973 8974346 Nox1 NADPH oxidase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620598 D RGD:9068941 20230713 RGD mRNA:increased expression:heart PMID:33658472|REF_RGD_ID:329955358 8974346 Nox1 NADPH oxidase 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ameliorates ISO RGD:620598 D RGD:9068941 20230720 RGD PMID:24294978|REF_RGD_ID:329955573 8974346 Nox1 NADPH oxidase 1 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:732308 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 8974346 Nox1 NADPH oxidase 1 gene DOID:9538 multiple myeloma ISO RGD:732308 D RGD:9068941 20230713 RGD protein:increased expression:serum PMID:32856850|REF_RGD_ID:329955356 8974382 Kcnk9 potassium two pore domain channel subfamily K member 9 gene DOID:0050675 Birk-Barel syndrome ISO RGD:734260 D RGD:7240710 20180130 OMIM 8974382 Kcnk9 potassium two pore domain channel subfamily K member 9 gene DOID:0050675 Birk-Barel syndrome ISO RGD:734260 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome | ClinVar Annotator: match by term: Birk-Barel syndrome PMID:18678320|PMID:23236211|PMID:25326635|PMID:25741868|PMID:27151206|PMID:28333430|PMID:28882594|PMID:29165669|PMID:30690205|PMID:35698242 8974382 Kcnk9 potassium two pore domain channel subfamily K member 9 gene DOID:0060041 autism spectrum disorder ISO RGD:734260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8974382 Kcnk9 potassium two pore domain channel subfamily K member 9 gene DOID:1825 childhood absence epilepsy ISO RGD:734260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15781965 8974382 Kcnk9 potassium two pore domain channel subfamily K member 9 gene DOID:630 genetic disease ISO RGD:734260 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10734076|PMID:25326635|PMID:25741868|PMID:29165669|PMID:35698242 8974382 Kcnk9 potassium two pore domain channel subfamily K member 9 gene DOID:9008582 Developmental Disease ISO RGD:734260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8974388 Cep89 centrosomal protein 89 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1605924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8974388 Cep89 centrosomal protein 89 gene DOID:630 genetic disease ISO RGD:1605924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8974388 Cep89 centrosomal protein 89 gene DOID:9266 cystinuria ISO RGD:1605924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystinuria PMID:21681106 8974411 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8974411 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:0080600 COVID-19 ISO RGD:1604818 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8974411 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1604818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8974411 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:630 genetic disease ISO RGD:1604818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974411 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:684 hepatocellular carcinoma ISO RGD:1604818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8974411 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1604818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8974411 Dtl denticleless E3 ubiquitin protein ligase homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8974430 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1354333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 8974430 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:0070404 hypomyelinating leukodystrophy 17 ISO RGD:1354333 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 17 PMID:25741868 8974430 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29289645 8974430 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8974430 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:3883 Lynch syndrome ISO RGD:1354333 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8974430 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:583 hemolytic anemia ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25411909 8974430 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:630 genetic disease ISO RGD:1354333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8974430 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9002720 Splenomegaly ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25411909 8974430 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9006620 Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome ISO RGD:1354333 D RGD:7240710 20200715 OMIM 8974430 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9006620 Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome ISO RGD:1354333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome PMID:25741868|PMID:32197074 8974430 Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1354333 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25411909 8974451 Mettl5 methyltransferase 5, N6-adenosine gene DOID:0080765 autosomal recessive intellectual developmental disorder 72 ISO RGD:1606016 D RGD:7240710 20191211 OMIM 8974451 Mettl5 methyltransferase 5, N6-adenosine gene DOID:0080765 autosomal recessive intellectual developmental disorder 72 ISO RGD:1606016 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 72 PMID:25741868|PMID:28492532|PMID:31130284|PMID:31564433|PMID:36305450 8974451 Mettl5 methyltransferase 5, N6-adenosine gene DOID:1059 intellectual disability ISO RGD:1606016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868|PMID:31564433 8974451 Mettl5 methyltransferase 5, N6-adenosine gene DOID:630 genetic disease ISO RGD:1606016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1348097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:0060898 Parkinson's disease 20 ISO RGD:1348097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1348097 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 ISO RGD:1348097 D RGD:7240710 20230505 OMIM 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 ISO RGD:1348097 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 PMID:25741868|PMID:34954817|PMID:35621276 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:10652 Alzheimer's disease ISO RGD:1348097 D RGD:9068941 20200609 RGD PMID:30266287|REF_RGD_ID:14696823 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:10652 Alzheimer's disease treatment ISO RGD:734072 D RGD:9068941 20200609 RGD PMID:30266287|REF_RGD_ID:14696823 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:1459 hypothyroidism ISO RGD:621379 D RGD:9068941 20200609 RGD protein:decreased expression:liver, mitochondrion (rat) PMID:9733093|REF_RGD_ID:13838730 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:1459 hypothyroidism treatment ISO RGD:621379 D RGD:9068941 20200609 RGD PMID:19878644|REF_RGD_ID:13830874 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:1826 epilepsy ISO RGD:1348097 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Seizure PMID:34954817 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:3652 Leigh disease ISO RGD:1348097 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:35621276 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1348097 D RGD:9068941 20200609 RGD PMID:28672194|REF_RGD_ID:14696810 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:5844 myocardial infarction treatment ISO RGD:734072 D RGD:9068941 20200609 RGD PMID:24692845|REF_RGD_ID:13801194 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:630 genetic disease ISO RGD:1348097 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:9000392 Fluoride Poisoning ISO RGD:621379 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart, mitochondrion (rat) PMID:21251948|REF_RGD_ID:5131501 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1348097 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:35621276 8974473 Atp5po ATP synthase peripheral stalk subunit OSCP gene DOID:9005698 ZTTK Syndrome ISO RGD:1348097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8974484 Ambn ameloblastin gene DOID:0110065 amelogenesis imperfecta type 1F ISO RGD:736409 D RGD:7240710 20180130 OMIM 8974484 Ambn ameloblastin gene DOID:0110065 amelogenesis imperfecta type 1F ISO RGD:736409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F PMID:24858907|PMID:25741868|PMID:26502894|PMID:28492532 8974484 Ambn ameloblastin gene DOID:630 genetic disease ISO RGD:736409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974501 Snf8 SNF8 subunit of ESCRT-II gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1604833 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8974501 Snf8 SNF8 subunit of ESCRT-II gene DOID:10487 Hirschsprung's disease ISO RGD:1604833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8974501 Snf8 SNF8 subunit of ESCRT-II gene DOID:630 genetic disease ISO RGD:1604833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974513 Clic5 chloride intracellular channel 5 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1351761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 8974513 Clic5 chloride intracellular channel 5 gene DOID:0110464 autosomal recessive nonsyndromic deafness 103 ISO RGD:1351761 D RGD:7240710 20180130 OMIM 8974513 Clic5 chloride intracellular channel 5 gene DOID:0110464 autosomal recessive nonsyndromic deafness 103 ISO RGD:1351761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 103 PMID:24033266|PMID:24781754|PMID:25741868|PMID:28492532 8974513 Clic5 chloride intracellular channel 5 gene DOID:630 genetic disease ISO RGD:1351761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8974513 Clic5 chloride intracellular channel 5 gene DOID:9004538 Hearing Loss ISO RGD:1351761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8974532 Plgrkt plasminogen receptor with a C-terminal lysine gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1315681 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8974532 Plgrkt plasminogen receptor with a C-terminal lysine gene DOID:630 genetic disease ISO RGD:1315681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974543 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1605947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:25741868 8974543 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111485 combined oxidative phosphorylation deficiency 24 ISO RGD:1605947 D RGD:7240710 20180130 OMIM 8974543 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111485 combined oxidative phosphorylation deficiency 24 ISO RGD:1605947 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24 PMID:22237560|PMID:25385316|PMID:25629079|PMID:25741868|PMID:25807530|PMID:26402642|PMID:26467025|PMID:28077841|PMID:28492532|PMID:30327238|PMID:31665838|PMID:34374940|PMID:35014173|PMID:35558980|PMID:36675121 8974543 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111641 autosomal recessive nonsyndromic deafness 94 ISO RGD:1605947 D RGD:7240710 20190626 OMIM 8974543 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:0111641 autosomal recessive nonsyndromic deafness 94 ISO RGD:1605947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 | ClinVar Annotator: match by term: Deafness, autosomal recessive 94 PMID:25741868|PMID:25807530|PMID:28492532 8974543 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:10003 sensorineural hearing loss ISO RGD:1605947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8974543 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1605947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8974543 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1605947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8974543 Nars2 asparaginyl-tRNA synthetase 2, mitochondrial gene DOID:700 mitochondrial metabolism disease ISO RGD:1605947 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 8974569 Ascl5 achaete-scute family bHLH transcription factor 5 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1603722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8974569 Ascl5 achaete-scute family bHLH transcription factor 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1603722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8974569 Ascl5 achaete-scute family bHLH transcription factor 5 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603722 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8974569 Ascl5 achaete-scute family bHLH transcription factor 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8974572 Esr2 estrogen receptor 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:14500559|REF_RGD_ID:5509042 8974572 Esr2 estrogen receptor 2 gene DOID:0050851 glomerulosclerosis susceptibility ISO RGD:10552 D RGD:9068941 20200609 RGD protein:decreased expression:renal glomerulus (mouse) PMID:12000739|REF_RGD_ID:7364801 8974572 Esr2 estrogen receptor 2 gene DOID:0050902 medulloblastoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21351254 8974572 Esr2 estrogen receptor 2 gene DOID:0060180 colitis ISO RGD:10552 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:21252046|REF_RGD_ID:5508810 8974572 Esr2 estrogen receptor 2 gene DOID:0060180 colitis ISO RGD:2582 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:21252046|REF_RGD_ID:5508810 8974572 Esr2 estrogen receptor 2 gene DOID:0060224 atrial fibrillation ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8974572 Esr2 estrogen receptor 2 gene DOID:0080500 ovarian dysgenesis 8 ISO RGD:69213 D RGD:7240710 20190315 OMIM 8974572 Esr2 estrogen receptor 2 gene DOID:0080500 ovarian dysgenesis 8 ISO RGD:69213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 8 PMID:30113650 8974572 Esr2 estrogen receptor 2 gene DOID:0080600 COVID-19 ISO RGD:69213 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8974572 Esr2 estrogen receptor 2 gene DOID:10283 prostate cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:17932344|REF_RGD_ID:8694101 8974572 Esr2 estrogen receptor 2 gene DOID:10591 pre-eclampsia ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:15894829|REF_RGD_ID:1581016 8974572 Esr2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease ISO RGD:10552 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15916731|REF_RGD_ID:5508772 8974572 Esr2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease ISO RGD:69213 D RGD:9068941 20200609 RGD protein:decreased expression:choroid plexus PMID:15082146|REF_RGD_ID:5508784 8974572 Esr2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs:3' utr: (rs4986938), (rs1255953) (human) PMID:17132983|REF_RGD_ID:5508768 8974572 Esr2 estrogen receptor 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS3-1880C>T, IVS4+1231C>T (rs1271573, rs1256043) (human) PMID:15944651|REF_RGD_ID:8693346 8974572 Esr2 estrogen receptor 2 gene DOID:1070 primary open angle glaucoma ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes PMID:18195227|REF_RGD_ID:8553056 8974572 Esr2 estrogen receptor 2 gene DOID:1070 primary open angle glaucoma severity ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:introns: IVS3 T>C, IVS8 A>G (rs1256031, rs4986938) (human) PMID:20399928|REF_RGD_ID:8694092 8974572 Esr2 estrogen receptor 2 gene DOID:10763 hypertension ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:11799247|REF_RGD_ID:734949 8974572 Esr2 estrogen receptor 2 gene DOID:10763 hypertension ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:23608653|REF_RGD_ID:7364951 8974572 Esr2 estrogen receptor 2 gene DOID:10763 hypertension ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:11185739|PMID:15167447|REF_RGD_ID:1581015|REF_RGD_ID:1581017 8974572 Esr2 estrogen receptor 2 gene DOID:10892 hypospadias susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human) PMID:17579196|REF_RGD_ID:1626506 8974572 Esr2 estrogen receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16700038 8974572 Esr2 estrogen receptor 2 gene DOID:11054 urinary bladder cancer severity ISO RGD:69213 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder urothelium (human) PMID:23612777|REF_RGD_ID:7364758 8974572 Esr2 estrogen receptor 2 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:17068134|REF_RGD_ID:8552985 8974572 Esr2 estrogen receptor 2 gene DOID:11476 osteoporosis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:21421090|REF_RGD_ID:10045841 8974572 Esr2 estrogen receptor 2 gene DOID:11476 osteoporosis ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:3'utr:*39A>G (human) PMID:16530497|REF_RGD_ID:10045825 8974572 Esr2 estrogen receptor 2 gene DOID:11476 osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP, haplotypes: :-1213T>C (human) PMID:16777502|REF_RGD_ID:1626507 8974572 Esr2 estrogen receptor 2 gene DOID:11476 osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:3' utr: g.dupCA (human) PMID:22948905|REF_RGD_ID:7364765 8974572 Esr2 estrogen receptor 2 gene DOID:11476 osteoporosis treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:16955786|REF_RGD_ID:8694129 8974572 Esr2 estrogen receptor 2 gene DOID:12361 Graves' disease no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat PMID:11180758|REF_RGD_ID:10045850 8974572 Esr2 estrogen receptor 2 gene DOID:12361 Graves' disease susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS8G>A (rs4986938) (human) PMID:17941906|REF_RGD_ID:8693348 8974572 Esr2 estrogen receptor 2 gene DOID:13949 interstitial cystitis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:17522255|REF_RGD_ID:7364800 8974572 Esr2 estrogen receptor 2 gene DOID:14330 Parkinson's disease onset ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:polymorphism: :1730A>G(human) PMID:15219649|REF_RGD_ID:5508776 8974572 Esr2 estrogen receptor 2 gene DOID:1596 depressive disorder treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24128867|REF_RGD_ID:10045672 8974572 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:3' utr:(CA)10-27 (human) PMID:17904846|REF_RGD_ID:8552977 8974572 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:19321582|REF_RGD_ID:8694110 8974572 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS5(CA)9-31 (human) PMID:22792352|REF_RGD_ID:8694096 8974572 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:silent mutation:exon:g.1176C>G (rs1256054) (human) PMID:20604969|REF_RGD_ID:8694116 8974572 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-13950C>T (rs2987983) (human) PMID:19429453|REF_RGD_ID:8693347 8974572 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, haplotype:exons:g.1082G>A, g.1730G>A, A>G (rs1256049, rs4986938, rs928554) (human) PMID:16261413|REF_RGD_ID:8694090 8974572 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:15604249|REF_RGD_ID:8552978 8974572 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:5' utr, exon, 3' utr:-12214C>T (rs1271572), A>G (rs928554), A>G (rs4986938) (human) PMID:19739075|REF_RGD_ID:8693382 8974572 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:intron, exon:g.14206C>T, g.33390C>G (rs1256054) (human) PMID:14633679|REF_RGD_ID:8694103 8974572 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD associated with Benign Breast Disease;DNA:snp:3' utr:*5772A>G (rs8018687) (human) PMID:16808847|REF_RGD_ID:8693380 8974572 Esr2 estrogen receptor 2 gene DOID:1612 breast cancer treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:23700476|REF_RGD_ID:7364946 8974572 Esr2 estrogen receptor 2 gene DOID:1679 cystitis ISO RGD:2582 D RGD:9068941 20200609 RGD protein:decreased expression:bladder PMID:16894621|REF_RGD_ID:5508847 8974572 Esr2 estrogen receptor 2 gene DOID:1712 aortic valve stenosis ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:15533858|REF_RGD_ID:1580704 8974572 Esr2 estrogen receptor 2 gene DOID:1909 melanoma severity ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:19153340|REF_RGD_ID:8553064 8974572 Esr2 estrogen receptor 2 gene DOID:1936 atherosclerosis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:21697723|REF_RGD_ID:5508792 8974572 Esr2 estrogen receptor 2 gene DOID:2030 anxiety disorder treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24015243|PMID:24631553|REF_RGD_ID:10045678|REF_RGD_ID:7364908 8974572 Esr2 estrogen receptor 2 gene DOID:219 colon cancer ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:19141699|REF_RGD_ID:8694174 8974572 Esr2 estrogen receptor 2 gene DOID:224 transient cerebral ischemia ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:23593292|REF_RGD_ID:7364962 8974572 Esr2 estrogen receptor 2 gene DOID:2316 brain ischemia ISO RGD:2582 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex, ipsilateral side (rat) PMID:10414967|REF_RGD_ID:8694344 8974572 Esr2 estrogen receptor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16700038 8974572 Esr2 estrogen receptor 2 gene DOID:2773 contact dermatitis severity ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:18167605|REF_RGD_ID:8694123 8974572 Esr2 estrogen receptor 2 gene DOID:2841 asthma ISO RGD:2582 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (rat) PMID:18375789|REF_RGD_ID:8694127 8974572 Esr2 estrogen receptor 2 gene DOID:289 endometriosis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:15618247|REF_RGD_ID:5509040 8974572 Esr2 estrogen receptor 2 gene DOID:289 endometriosis ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625110 8974572 Esr2 estrogen receptor 2 gene DOID:299 adenocarcinoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17639508 8974572 Esr2 estrogen receptor 2 gene DOID:305 carcinoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 8974572 Esr2 estrogen receptor 2 gene DOID:3069 malignant astrocytoma ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 8974572 Esr2 estrogen receptor 2 gene DOID:3393 coronary artery disease ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20559769 8974572 Esr2 estrogen receptor 2 gene DOID:3393 coronary artery disease ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:16099331|REF_RGD_ID:1581014 8974572 Esr2 estrogen receptor 2 gene DOID:418 systemic scleroderma no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP:exon: PMID:19032828|REF_RGD_ID:8553058 8974572 Esr2 estrogen receptor 2 gene DOID:437 myasthenia gravis ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:15661863|REF_RGD_ID:5509039 8974572 Esr2 estrogen receptor 2 gene DOID:630 genetic disease ISO RGD:69213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8974572 Esr2 estrogen receptor 2 gene DOID:6432 pulmonary hypertension ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:21700911|REF_RGD_ID:5508791 8974572 Esr2 estrogen receptor 2 gene DOID:657 adenoma ISO RGD:69213 D RGD:9068941 20200609 RGD ratio with Esr1;mRNA:decreased expression:thyroid gland (human) PMID:11721176|REF_RGD_ID:8694118 8974572 Esr2 estrogen receptor 2 gene DOID:7148 rheumatoid arthritis severity ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs1256049(human) PMID:21523342|REF_RGD_ID:5508794 8974572 Esr2 estrogen receptor 2 gene DOID:8283 peritonitis treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:23063870|REF_RGD_ID:8553243 8974572 Esr2 estrogen receptor 2 gene DOID:8398 osteoarthritis ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs1256031) (human) PMID:19884274|REF_RGD_ID:10045830 8974572 Esr2 estrogen receptor 2 gene DOID:8466 retinal degeneration ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:19799898|REF_RGD_ID:8694106 8974572 Esr2 estrogen receptor 2 gene DOID:8577 ulcerative colitis ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:21252046|REF_RGD_ID:5508810 8974572 Esr2 estrogen receptor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16220300 8974572 Esr2 estrogen receptor 2 gene DOID:8634 prostate carcinoma in situ treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:22025007|REF_RGD_ID:8553211 8974572 Esr2 estrogen receptor 2 gene DOID:8692 myeloid leukemia ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:12740446|REF_RGD_ID:734951 8974572 Esr2 estrogen receptor 2 gene DOID:8719 in situ carcinoma ISO RGD:69213 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17924141|REF_RGD_ID:2290024 8974572 Esr2 estrogen receptor 2 gene DOID:8778 Crohn's disease disease_progression ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:colon PMID:21252046|REF_RGD_ID:5508810 8974572 Esr2 estrogen receptor 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:25105782|REF_RGD_ID:10045844 8974572 Esr2 estrogen receptor 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22166976 8974572 Esr2 estrogen receptor 2 gene DOID:9000310 Lung Injury ISO RGD:2582 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:20195535|REF_RGD_ID:4892252 8974572 Esr2 estrogen receptor 2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 8974572 Esr2 estrogen receptor 2 gene DOID:9000528 Coronary Disease ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17367797 8974572 Esr2 estrogen receptor 2 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:18076706|REF_RGD_ID:2293866 8974572 Esr2 estrogen receptor 2 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:16859701|REF_RGD_ID:8694176 8974572 Esr2 estrogen receptor 2 gene DOID:9001968 Hot Flashes treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24823389|REF_RGD_ID:10045671 8974572 Esr2 estrogen receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:19285805|REF_RGD_ID:8553066 8974572 Esr2 estrogen receptor 2 gene DOID:9002211 Hyperalgesia ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:17056036|REF_RGD_ID:5508846 8974572 Esr2 estrogen receptor 2 gene DOID:9002234 Pituitary Neoplasms ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:pituitary gland (human) PMID:11081187|REF_RGD_ID:8694115 8974572 Esr2 estrogen receptor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15046698|PMID:16220300|PMID:16921512|PMID:17132221|PMID:17639508|PMID:26443449 8974572 Esr2 estrogen receptor 2 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:17908481|REF_RGD_ID:2290023 8974572 Esr2 estrogen receptor 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:intron:c.1092+3607(CA)13-27 (human) PMID:16098017|REF_RGD_ID:10043199 8974572 Esr2 estrogen receptor 2 gene DOID:9002457 Experimental Arthritis ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:16269464|REF_RGD_ID:5508854 8974572 Esr2 estrogen receptor 2 gene DOID:9002473 Blast Crisis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:12740446|REF_RGD_ID:734951 8974572 Esr2 estrogen receptor 2 gene DOID:9002720 Splenomegaly ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:12740446|REF_RGD_ID:734951 8974572 Esr2 estrogen receptor 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:21182085|PMID:21565615|REF_RGD_ID:5508732|REF_RGD_ID:5508735 8974572 Esr2 estrogen receptor 2 gene DOID:9002775 Cognitive Dysfunction susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:introns, exon:C>T (rs1256030), A>C (rs1256065), C>G (rs1255998) (human) PMID:17889406|REF_RGD_ID:8694087 8974572 Esr2 estrogen receptor 2 gene DOID:9003919 Urination Disorders treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24259512|REF_RGD_ID:10045674 8974572 Esr2 estrogen receptor 2 gene DOID:9004118 Experimental Melanoma severity ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:20354658|REF_RGD_ID:8694122 8974572 Esr2 estrogen receptor 2 gene DOID:9004272 Varicose Ulcer ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon PMID:18070128|REF_RGD_ID:8553061 8974572 Esr2 estrogen receptor 2 gene DOID:9004272 Varicose Ulcer ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:(CA) dinucleotide repeat (human) PMID:16153823|REF_RGD_ID:1626508 8974572 Esr2 estrogen receptor 2 gene DOID:9004484 Sepsis ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:16755255|REF_RGD_ID:5508850 8974572 Esr2 estrogen receptor 2 gene DOID:9004538 Hearing Loss ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:18317592|REF_RGD_ID:8553063 8974572 Esr2 estrogen receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:16627800|REF_RGD_ID:1581018 8974572 Esr2 estrogen receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:16280269|REF_RGD_ID:1581013 8974572 Esr2 estrogen receptor 2 gene DOID:9004764 Lithiasis ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21670126 8974572 Esr2 estrogen receptor 2 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:3'utr:*39A>G (human) PMID:22335445|REF_RGD_ID:10045849 8974572 Esr2 estrogen receptor 2 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP: :-1213T>C (human) PMID:16777502|REF_RGD_ID:1626507 8974572 Esr2 estrogen receptor 2 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS5-3919(CA)18-26 (human) PMID:17945165|REF_RGD_ID:10045847 8974572 Esr2 estrogen receptor 2 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) PMID:19884274|REF_RGD_ID:10045830 8974572 Esr2 estrogen receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2582 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, nucleus PMID:15637090|REF_RGD_ID:8552983 8974572 Esr2 estrogen receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 8974572 Esr2 estrogen receptor 2 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24078029|REF_RGD_ID:7364911 8974572 Esr2 estrogen receptor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17133264 8974572 Esr2 estrogen receptor 2 gene DOID:9007096 Stroke treatment ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:24406718|REF_RGD_ID:10045677 8974572 Esr2 estrogen receptor 2 gene DOID:9007181 Osteoporotic Fractures ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:25085540|REF_RGD_ID:10045675 8974572 Esr2 estrogen receptor 2 gene DOID:9007181 Osteoporotic Fractures ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP: :-1213T>C (human) PMID:16777502|REF_RGD_ID:1626507 8974572 Esr2 estrogen receptor 2 gene DOID:9007181 Osteoporotic Fractures ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron, 3' utr:IVS2+520C>T, g.*39G>A (rs1256031, rs4986938) (human) PMID:16939403|REF_RGD_ID:10045848 8974572 Esr2 estrogen receptor 2 gene DOID:9007355 Hashimoto Disease no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat PMID:11180758|REF_RGD_ID:10045850 8974572 Esr2 estrogen receptor 2 gene DOID:9007456 Female Infertility ISO RGD:2582 D RGD:9068941 20200827 RGD PMID:28520870|REF_RGD_ID:38548924 8974572 Esr2 estrogen receptor 2 gene DOID:9007456 Female Infertility ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 8974572 Esr2 estrogen receptor 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69213 D RGD:9068941 20230803 CTD CTD Direct Evidence: therapeutic PMID:22398780 8974572 Esr2 estrogen receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25437045 8974572 Esr2 estrogen receptor 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:18656630|REF_RGD_ID:5508820 8974572 Esr2 estrogen receptor 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15954165 8974572 Esr2 estrogen receptor 2 gene DOID:9008681 Deafness ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:19293293|REF_RGD_ID:8553051 8974572 Esr2 estrogen receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:69213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17132221|PMID:19434490|PMID:19548127 8974572 Esr2 estrogen receptor 2 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:18234277|REF_RGD_ID:2290017 8974572 Esr2 estrogen receptor 2 gene DOID:9008939 Breast Neoplasms treatment ISO RGD:69213 D RGD:9068941 20200609 RGD PMID:24047421|REF_RGD_ID:8552984 8974572 Esr2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:10552 D RGD:9068941 20200609 RGD PMID:17336162|REF_RGD_ID:5508844 8974572 Esr2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte,mononuclear PMID:17874259|REF_RGD_ID:5508843 8974572 Esr2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:69213 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:20627037|REF_RGD_ID:5508813 8974572 Esr2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:SNP: :rs4986938 (human) PMID:20961965|REF_RGD_ID:5508738 8974572 Esr2 estrogen receptor 2 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeats:intron: PMID:20305046|REF_RGD_ID:5508817 8974572 Esr2 estrogen receptor 2 gene DOID:9256 colorectal cancer susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:repeat:3' utr:g.dupCA (human) PMID:21884200|REF_RGD_ID:7364791 8974572 Esr2 estrogen receptor 2 gene DOID:987 alopecia no_association ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:22509838|REF_RGD_ID:8694094 8974572 Esr2 estrogen receptor 2 gene DOID:987 alopecia susceptibility ISO RGD:69213 D RGD:9068941 20200609 RGD DNA:snps:enhancer, intron g.-20301C>T, g.34493G>A, g.16688A>G (rs2022748, rs10137185, rs17101774) (human) PMID:22014031|REF_RGD_ID:8694095 8974572 Esr2 estrogen receptor 2 gene DOID:9970 obesity ISO RGD:2582 D RGD:9068941 20200609 RGD PMID:22230815|REF_RGD_ID:8553199 8974597 Ntn1 netrin 1 gene DOID:0080395 orofacial cleft 1 ISO RGD:735501 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Orofacial cleft 1 PMID:25741868 8974597 Ntn1 netrin 1 gene DOID:10652 Alzheimer's disease treatment ISO RGD:735502 D RGD:9068941 20200609 RGD PMID:30066400|REF_RGD_ID:13782183 8974597 Ntn1 netrin 1 gene DOID:4724 brain edema ISO RGD:735501 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29162556 8974597 Ntn1 netrin 1 gene DOID:630 genetic disease ISO RGD:735501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974597 Ntn1 netrin 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:735501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29162556 8974597 Ntn1 netrin 1 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:735501 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29162556 8974597 Ntn1 netrin 1 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:619809 D RGD:9068941 20221201 RGD PMID:26670826|REF_RGD_ID:155663663 8974597 Ntn1 netrin 1 gene DOID:9003768 Mirror Movements 4 ISO RGD:735501 D RGD:7240710 20190315 OMIM 8974597 Ntn1 netrin 1 gene DOID:9003768 Mirror Movements 4 ISO RGD:735501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 4 PMID:28945198 8974597 Ntn1 netrin 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735501 D RGD:9068941 20230128 CTD CTD Direct Evidence: therapeutic PMID:35292334 8974597 Ntn1 netrin 1 gene DOID:9296 cleft lip ISO RGD:735501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate 8974604 Dennd10 DENN domain containing 10 gene DOID:630 genetic disease ISO RGD:1344685 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974619 Mmd2 monocyte to macrophage differentiation associated 2 gene DOID:11372 megacolon ISO RGD:1315160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8974619 Mmd2 monocyte to macrophage differentiation associated 2 gene DOID:630 genetic disease ISO RGD:1315160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974637 Bok BCL2 family apoptosis regulator BOK gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:737138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8974637 Bok BCL2 family apoptosis regulator BOK gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:737138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8974637 Bok BCL2 family apoptosis regulator BOK gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:737138 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8974637 Bok BCL2 family apoptosis regulator BOK gene DOID:1059 intellectual disability ISO RGD:737138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8974637 Bok BCL2 family apoptosis regulator BOK gene DOID:10908 hydrocephalus ISO RGD:70984 D RGD:9068941 20200609 RGD mRNA:increased expression:brain:Hydrocephalus-Texas (HTX, RS:0000399) vs. SD (RS:0000681) rats PMID:15964663|REF_RGD_ID:1624238 8974637 Bok BCL2 family apoptosis regulator BOK gene DOID:630 genetic disease ISO RGD:737138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974637 Bok BCL2 family apoptosis regulator BOK gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:737138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8974647 CUNH2orf80 chromosome unknown C2orf80 homolog gene DOID:14557 primary pulmonary hypertension ISO RGD:2298832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8974647 CUNH2orf80 chromosome unknown C2orf80 homolog gene DOID:630 genetic disease ISO RGD:2298832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974647 CUNH2orf80 chromosome unknown C2orf80 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2298832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8974702 Akap8 A-kinase anchoring protein 8 gene DOID:2843 long QT syndrome ISO RGD:731444 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8974702 Akap8 A-kinase anchoring protein 8 gene DOID:630 genetic disease ISO RGD:731444 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974728 Jam2 junctional adhesion molecule 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343747 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8974728 Jam2 junctional adhesion molecule 2 gene DOID:10652 Alzheimer's disease ISO RGD:1343747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 8974728 Jam2 junctional adhesion molecule 2 gene DOID:3042 allergic contact dermatitis ISO RGD:1615884 D RGD:9068941 20200609 RGD PMID:16297198|REF_RGD_ID:7488919 8974728 Jam2 junctional adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1343747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974728 Jam2 junctional adhesion molecule 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8974728 Jam2 junctional adhesion molecule 2 gene DOID:9005393 Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy ISO RGD:1343747 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy PMID:16369530|PMID:19047566 8974728 Jam2 junctional adhesion molecule 2 gene DOID:9007160 Idiopathic Basal Ganglia Calcification 8 ISO RGD:1343747 D RGD:7240710 20200408 OMIM 8974728 Jam2 junctional adhesion molecule 2 gene DOID:9007160 Idiopathic Basal Ganglia Calcification 8 ISO RGD:1343747 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive | ClinVar Annotator: match by term: JAM2-related condition PMID:25741868|PMID:26136916|PMID:31851307|PMID:32142645 8974748 Gnl2 G protein nucleolar 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1343978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8974748 Gnl2 G protein nucleolar 2 gene DOID:630 genetic disease ISO RGD:1343978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974777 Igip IgA inducing protein gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1604414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8974777 Igip IgA inducing protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1604414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8974777 Igip IgA inducing protein gene DOID:630 genetic disease ISO RGD:1604414 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974777 Igip IgA inducing protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8974777 Igip IgA inducing protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1604414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8974782 Znf652 zinc finger protein 652 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1350708 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8974782 Znf652 zinc finger protein 652 gene DOID:630 genetic disease ISO RGD:1350708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974799 Rmnd5a required for meiotic nuclear division 5 homolog A gene DOID:630 genetic disease ISO RGD:1604311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974799 Rmnd5a required for meiotic nuclear division 5 homolog A gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1604311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 8974815 Ttc7a tetratricopeptide repeat domain 7A gene DOID:12177 common variable immunodeficiency ISO RGD:1314700 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:9536098 8974815 Ttc7a tetratricopeptide repeat domain 7A gene DOID:14671 multiple intestinal atresia ISO RGD:1314700 D RGD:7240710 20180130 OMIM 8974815 Ttc7a tetratricopeptide repeat domain 7A gene DOID:14671 multiple intestinal atresia ISO RGD:1314700 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome | ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1 | ClinVar Annotator: match by term: Multiple gastrointestinal atresias | ClinVar Annotator: match by term: Multiple intestinal atresia PMID:16199547|PMID:17576681|PMID:23423984|PMID:23830146|PMID:24033266|PMID:24266605|PMID:24292712|PMID:24417819|PMID:24448499|PMID:24931897|PMID:25174867|PMID:25326635|PMID:25534311|PMID:25587526|PMID:25741868|PMID:26193622|PMID:26938784|PMID:27418642|PMID:27577878|PMID:28492532|PMID:28808844|PMID:28930861|PMID:28936210|PMID:29174094|PMID:30443250|PMID:30553809|PMID:31616743|PMID:31787977|PMID:31814065|PMID:31980526|PMID:32084423|PMID:32499645|PMID:32531373|PMID:32581362|PMID:32888943|PMID:35627206|PMID:9536098 8974815 Ttc7a tetratricopeptide repeat domain 7A gene DOID:3883 Lynch syndrome ISO RGD:1314700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8974815 Ttc7a tetratricopeptide repeat domain 7A gene DOID:627 severe combined immunodeficiency ISO RGD:1314700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 8974815 Ttc7a tetratricopeptide repeat domain 7A gene DOID:630 genetic disease ISO RGD:1314700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8974815 Ttc7a tetratricopeptide repeat domain 7A gene DOID:8893 psoriasis ISO RGD:1314701 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 8974850 Coro2a coronin 2A gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8974850 Coro2a coronin 2A gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8974850 Coro2a coronin 2A gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8974850 Coro2a coronin 2A gene DOID:1059 intellectual disability ISO RGD:1320210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8974850 Coro2a coronin 2A gene DOID:12712 nephronophthisis ISO RGD:1320210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8974850 Coro2a coronin 2A gene DOID:14004 thoracic aortic aneurysm ISO RGD:1320210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8974850 Coro2a coronin 2A gene DOID:2661 myoepithelioma ISO RGD:1320210 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8974850 Coro2a coronin 2A gene DOID:630 genetic disease ISO RGD:1320210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974850 Coro2a coronin 2A gene DOID:9001793 Generalized Epilepsy ISO RGD:1320210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8974878 Pax7 paired box 7 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604064 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8974878 Pax7 paired box 7 gene DOID:0081351 congenital myopathy 19 ISO RGD:1604064 D RGD:7240710 20191016 OMIM 8974878 Pax7 paired box 7 gene DOID:0081351 congenital myopathy 19 ISO RGD:1604064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis PMID:25741868|PMID:31092906|PMID:32214227 8974878 Pax7 paired box 7 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1604064 D RGD:7240710 20180130 OMIM 8974878 Pax7 paired box 7 gene DOID:4051 alveolar rhabdomyosarcoma ISO RGD:1604064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 PMID:25741868|PMID:31092906|PMID:32214227 8974878 Pax7 paired box 7 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8974878 Pax7 paired box 7 gene DOID:630 genetic disease ISO RGD:1604064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974897 Lifr LIF receptor subunit alpha gene DOID:0080205 CAKUT ISO RGD:1354198 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:26627873|PMID:28334964|PMID:28492532|PMID:34063511|PMID:34426522 8974897 Lifr LIF receptor subunit alpha gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1354198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:14740318|PMID:28492532 8974897 Lifr LIF receptor subunit alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1354198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8974897 Lifr LIF receptor subunit alpha gene DOID:2256 osteochondrodysplasia ISO RGD:1354198 D RGD:9068941 20200609 RGD Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, OMIM:151443 PMID:14740318|REF_RGD_ID:1600614 8974897 Lifr LIF receptor subunit alpha gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 8974897 Lifr LIF receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1354198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8974897 Lifr LIF receptor subunit alpha gene DOID:65 connective tissue disease ISO RGD:1354198 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28334964|PMID:28492532 8974897 Lifr LIF receptor subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1354198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8974897 Lifr LIF receptor subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208208 8974897 Lifr LIF receptor subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8974897 Lifr LIF receptor subunit alpha gene DOID:9004577 Stuve-Wiedemann Syndrome ISO RGD:1354198 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:14740318|PMID:16199547|PMID:17576681|PMID:19371797|PMID:20447141|PMID:24033266|PMID:24477277|PMID:24988918|PMID:25326635|PMID:25540807|PMID:25741868|PMID:25868946|PMID:26627873|PMID:26752647|PMID:28334964|PMID:28492532|PMID:30614825|PMID:34063511|PMID:34426522|PMID:9536098 8974897 Lifr LIF receptor subunit alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621431 D RGD:9068941 20200609 RGD PMID:15786720|REF_RGD_ID:1581858 8974897 Lifr LIF receptor subunit alpha gene DOID:9008086 Developmental Disabilities ISO RGD:1354198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30311386 8974897 Lifr LIF receptor subunit alpha gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1354198 D RGD:7240710 20180130 OMIM 8974897 Lifr LIF receptor subunit alpha gene DOID:9008909 Stuve-Wiedemann Syndrome 1 ISO RGD:1354198 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 PMID:14740318|PMID:16199547|PMID:19371797|PMID:24477277|PMID:25741868|PMID:25868946|PMID:26627873|PMID:28334964|PMID:28492532|PMID:30919572|PMID:34063511|PMID:34426522 8974923 Wsb2 WD repeat and SOCS box containing 2 gene DOID:630 genetic disease ISO RGD:1346731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8974936 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1314591 D RGD:7240710 20180130 OMIM 8974936 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1314591 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Parkinson disease 18, autosomal dominant, susceptibility to PMID:21907011|PMID:23408866|PMID:25368108|PMID:25741868|PMID:28492532 8974936 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314591 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8974936 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314591 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8974936 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0080600 COVID-19 ISO RGD:1314591 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8974936 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:0111546 Currarino syndrome ISO RGD:1314591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8974936 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:12849 autistic disorder ISO RGD:1314591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 8974936 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:630 genetic disease ISO RGD:1314591 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8974936 Eif4g1 eukaryotic translation initiation factor 4 gamma 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1306144 D RGD:9068941 20200609 RGD PMID:16439989|REF_RGD_ID:10401145 8975019 Setdb2 SET domain bifurcated histone lysine methyltransferase 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1321179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8975019 Setdb2 SET domain bifurcated histone lysine methyltransferase 2 gene DOID:1059 intellectual disability ISO RGD:1321179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8975019 Setdb2 SET domain bifurcated histone lysine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1321179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975041 Haus6 HAUS augmin like complex subunit 6 gene DOID:630 genetic disease ISO RGD:1320176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975041 Haus6 HAUS augmin like complex subunit 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1320176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043753 8975041 Haus6 HAUS augmin like complex subunit 6 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1320176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8975061 Plxnb2 plexin B2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8975061 Plxnb2 plexin B2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1313554 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8975061 Plxnb2 plexin B2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8975061 Plxnb2 plexin B2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8975061 Plxnb2 plexin B2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1313554 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8975061 Plxnb2 plexin B2 gene DOID:1059 intellectual disability ISO RGD:1313554 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8975061 Plxnb2 plexin B2 gene DOID:630 genetic disease ISO RGD:1313554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975117 Ttc31 tetratricopeptide repeat domain 31 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1605049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8975117 Ttc31 tetratricopeptide repeat domain 31 gene DOID:543 dystonia ISO RGD:1605049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8975117 Ttc31 tetratricopeptide repeat domain 31 gene DOID:630 genetic disease ISO RGD:1605049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975117 Ttc31 tetratricopeptide repeat domain 31 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8975138 Ppp4r2 protein phosphatase 4 regulatory subunit 2 gene DOID:630 genetic disease ISO RGD:1316433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975162 Dusp8 dual specificity phosphatase 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8975162 Dusp8 dual specificity phosphatase 8 gene DOID:0080773 delta beta-thalassemia ISO RGD:1315032 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8975162 Dusp8 dual specificity phosphatase 8 gene DOID:0111969 immunodeficiency 39 ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8975162 Dusp8 dual specificity phosphatase 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8975162 Dusp8 dual specificity phosphatase 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8975162 Dusp8 dual specificity phosphatase 8 gene DOID:630 genetic disease ISO RGD:1315032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975162 Dusp8 dual specificity phosphatase 8 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1315032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8975176 Xylt1 xylosyltransferase 1 gene DOID:0060462 Desbuquois dysplasia ISO RGD:737486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8975176 Xylt1 xylosyltransferase 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:737486 D RGD:7240710 20180130 OMIM 8975176 Xylt1 xylosyltransferase 1 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:737486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of PMID:16571645|PMID:24581741|PMID:25741868|PMID:28085539|PMID:28492532 8975176 Xylt1 xylosyltransferase 1 gene DOID:303 substance-related disorder ISO RGD:737486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8975176 Xylt1 xylosyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:737486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8975176 Xylt1 xylosyltransferase 1 gene DOID:557 kidney disease ISO RGD:620093 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:18095597|REF_RGD_ID:2313146 8975176 Xylt1 xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:737486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8975176 Xylt1 xylosyltransferase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620093 D RGD:9068941 20200609 RGD PMID:18765417|REF_RGD_ID:2313145 8975176 Xylt1 xylosyltransferase 1 gene DOID:9001046 Desbuquois Dysplasia 2 ISO RGD:737486 D RGD:7240710 20180130 OMIM 8975176 Xylt1 xylosyltransferase 1 gene DOID:9001046 Desbuquois Dysplasia 2 ISO RGD:737486 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 2 PMID:16571645|PMID:22711505|PMID:23982343|PMID:24581741|PMID:25741868|PMID:26601923|PMID:28462984|PMID:28492532|PMID:30554721 8975176 Xylt1 xylosyltransferase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737486 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:missense mutation:cds:p.A115S (human) PMID:17003309|REF_RGD_ID:2313138 8975176 Xylt1 xylosyltransferase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:620093 D RGD:9068941 20200609 RGD mRNA:decreased expression:articular cartilage PMID:19001053|REF_RGD_ID:2313142 8975176 Xylt1 xylosyltransferase 1 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:737486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:16376579|PMID:16571645|PMID:17576681|PMID:24581741|PMID:25741868|PMID:26601923|PMID:28085539|PMID:28229453|PMID:28462984|PMID:28492532|PMID:30554721|PMID:31785789|PMID:9536098 8975176 Xylt1 xylosyltransferase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737486 D RGD:9068941 20200609 RGD DNA:missense mutation, polymorphisms:cds, intron :p.A115S, IVS3+10C>T, IVS3+30G>C (human) PMID:16759312|REF_RGD_ID:2313136 8975191 Fndc5 fibronectin type III domain containing 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1348160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8975191 Fndc5 fibronectin type III domain containing 5 gene DOID:10763 hypertension ISO RGD:1348160 D RGD:9068941 20201106 CTD CTD Direct Evidence: therapeutic PMID:32165127 8975191 Fndc5 fibronectin type III domain containing 5 gene DOID:12932 endomyocardial fibrosis ISO RGD:1348160 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30703374 8975191 Fndc5 fibronectin type III domain containing 5 gene DOID:630 genetic disease ISO RGD:1348160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975191 Fndc5 fibronectin type III domain containing 5 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1348160 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30703374 8975191 Fndc5 fibronectin type III domain containing 5 gene DOID:9003936 Cardiomegaly ISO RGD:1348160 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30703374 8975191 Fndc5 fibronectin type III domain containing 5 gene DOID:9005372 Inflammation ISO RGD:1348160 D RGD:9068941 20201106 CTD CTD Direct Evidence: therapeutic PMID:32165127 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:1909 melanoma ISO RGD:1314958 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2747 glycogen storage disease ISO RGD:1314958 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:17994282|PMID:20071996|PMID:20490926|PMID:23430490|PMID:24033266|PMID:25602008|PMID:25741868|PMID:26984562|PMID:28492532|PMID:29374762|PMID:31980526|PMID:8990006|PMID:9412782 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III ISO RGD:1314958 D RGD:7240710 20180130 OMIM 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III ISO RGD:1314958 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:10472540|PMID:10571954|PMID:10655153|PMID:10801050|PMID:10925384|PMID:10982190|PMID:11378828|PMID:11757581|PMID:11924557|PMID:11949933|PMID:11977176|PMID:12442284|PMID:12955720|PMID:15542399|PMID:15833157|PMID:16189622|PMID:16199547|PMID:16705713|PMID:17047887|PMID:17196294|PMID:17576681|PMID:17895567|PMID:17908927|PMID:17915576|PMID:17994282|PMID:18617770|PMID:18785866|PMID:18924225|PMID:19299494|PMID:19754354|PMID:19763152|PMID:19834502|PMID:19951465|PMID:19951495|PMID:20071996|PMID:20158661|PMID:20307669|PMID:20490926|PMID:20526204|PMID:20648714|PMID:21228398|PMID:21321962|PMID:21691223|PMID:22089644|PMID:22406018|PMID:22899091|PMID:22995991|PMID:23062577|PMID:23207808|PMID:23430490|PMID:23430832|PMID:23430941|PMID:23649758|PMID:24033266|PMID:24257475|PMID:24495762|PMID:24824133|PMID:25388549|PMID:25431232|PMID:25451272|PMID:25451950|PMID:25525159|PMID:25602008|PMID:25741868|PMID:25827695|PMID:26885414|PMID:26913919|PMID:26984562|PMID:27088557|PMID:27106217|PMID:27460348|PMID:27604308|PMID:28039895|PMID:28074886|PMID:28492532|PMID:28720891|PMID:28888851|PMID:29374762|PMID:29614965|PMID:29794575|PMID:30916492|PMID:31028654|PMID:31319225|PMID:31508908|PMID:31661040|PMID:31980526|PMID:32222031|PMID:32374048|PMID:32528171|PMID:32714838|PMID:32772503|PMID:33344388|PMID:34019008|PMID:34134972|PMID:34298581|PMID:34649782|PMID:34820282|PMID:8702417|PMID:8755644|PMID:87556440|PMID:8990006|PMID:9332391|PMID:9412782|PMID:9490286|PMID:9536098|PMID:9584265 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III ISO RGD:1314958 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:10472540|PMID:10571954|PMID:10655153|PMID:10801050|PMID:10925384|PMID:10982190|PMID:11378828|PMID:11757581|PMID:11924557|PMID:11949933|PMID:11977176|PMID:12442284|PMID:12955720|PMID:15542399|PMID:15833157|PMID:16189622|PMID:16199547|PMID:16705713|PMID:17047887|PMID:17196294|PMID:17576681|PMID:17895567|PMID:17908927|PMID:17915576|PMID:17994282|PMID:18617770|PMID:18785866|PMID:18924225|PMID:19299494|PMID:19754354|PMID:19763152|PMID:19834502|PMID:19951465|PMID:19951495|PMID:20071996|PMID:20158661|PMID:20307669|PMID:20490926|PMID:20526204|PMID:20648714|PMID:21228398|PMID:21321962|PMID:21691223|PMID:21857385|PMID:22089644|PMID:22406018|PMID:22899091|PMID:22995991|PMID:23062577|PMID:23207808|PMID:23430490|PMID:23430832|PMID:23430941|PMID:23649758|PMID:24033266|PMID:24257475|PMID:24495762|PMID:24824133|PMID:25388549|PMID:25431232|PMID:25451272|PMID:25451950|PMID:25525159|PMID:25602008|PMID:25741868|PMID:25827695|PMID:26885414|PMID:26913919|PMID:26984562|PMID:27065010|PMID:27088557|PMID:27106217|PMID:27243974|PMID:27460348|PMID:27604308|PMID:27629047|PMID:28039895|PMID:28074886|PMID:28492532|PMID:28720891|PMID:28888851|PMID:29374762|PMID:29614965|PMID:29794575|PMID:30916492|PMID:31028654|PMID:31130284|PMID:31319225|PMID:31508908|PMID:31661040|PMID:31980526|PMID:32222031|PMID:32374048|PMID:32528171|PMID:32714838|PMID:32772503|PMID:33344388|PMID:34019008|PMID:34134972|PMID:34298581|PMID:34649782|PMID:34820282|PMID:36579437|PMID:8702417|PMID:8755644|PMID:87556440|PMID:8990006|PMID:9332391|PMID:9412782|PMID:9490286|PMID:9536098|PMID:9584265 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:2748 glycogen storage disease III susceptibility ISO RGD:1314958 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations, nonsense mutations: :multiple PMID:16705713|REF_RGD_ID:1601129 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:4676 uremia ISO RGD:1306376 D RGD:9068941 20200609 RGD PMID:807434|REF_RGD_ID:1598784 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:630 genetic disease ISO RGD:1314958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10472540|PMID:17576681|PMID:19299494|PMID:20071996|PMID:20490926|PMID:20648714|PMID:23062577|PMID:23430490|PMID:25741868|PMID:28492532|PMID:31028654|PMID:34649782|PMID:34820282|PMID:8990006|PMID:9536098 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9000150 Glycogen Storage Disease IIIA ISO RGD:1314958 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIa PMID:10571954|PMID:10655153|PMID:10801050|PMID:10982190|PMID:11378828|PMID:11924557|PMID:12442284|PMID:15542399|PMID:16189622|PMID:16199547|PMID:16705713|PMID:17576681|PMID:17908927|PMID:18924225|PMID:19299494|PMID:19834502|PMID:19951465|PMID:20071996|PMID:20490926|PMID:20648714|PMID:21691223|PMID:22089644|PMID:22899091|PMID:23062577|PMID:23207808|PMID:23430490|PMID:25388549|PMID:25525159|PMID:25602008|PMID:25741868|PMID:25827695|PMID:26913919|PMID:26984562|PMID:27065010|PMID:27460348|PMID:28492532|PMID:29614965|PMID:31319225|PMID:32714838|PMID:32772503|PMID:34820282|PMID:8702417|PMID:8990006|PMID:9412782|PMID:9490286|PMID:9536098 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9002814 Glycogen Storage Disease IIIC ISO RGD:1314958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIc PMID:19299494|PMID:19834502 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9004482 Glycogen Storage Disease IIIB ISO RGD:1314958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIb PMID:10655153|PMID:10801050|PMID:10925384|PMID:11924557|PMID:17196294|PMID:17576681|PMID:19299494|PMID:20071996|PMID:20490926|PMID:20526204|PMID:20648714|PMID:22089644|PMID:23430490|PMID:25741868|PMID:25827695|PMID:26984562|PMID:28492532|PMID:32222031|PMID:8755644|PMID:9490286|PMID:9536098 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1306376 D RGD:9068941 20200609 RGD PMID:9281456|REF_RGD_ID:1598779 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9008858 Arthrogryposis, Impaired Intellectual Development, and Seizures ISO RGD:1314958 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder - epilepsy - arthrogryposis syndrome PMID:24031089|PMID:28328131|PMID:28492532 8975208 Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene DOID:9269 maple syrup urine disease ISO RGD:1314958 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8975288 Hbegf heparin binding EGF like growth factor gene DOID:0050851 glomerulosclerosis induced ISO RGD:1605733 D RGD:9068941 20200910 RGD PMID:16107576|REF_RGD_ID:1556472 8975288 Hbegf heparin binding EGF like growth factor gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1605733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8975288 Hbegf heparin binding EGF like growth factor gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605733 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8975288 Hbegf heparin binding EGF like growth factor gene DOID:289 endometriosis ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8975288 Hbegf heparin binding EGF like growth factor gene DOID:3021 acute kidney failure ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7635938 8975288 Hbegf heparin binding EGF like growth factor gene DOID:3021 acute kidney failure ISO RGD:2526 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11340354|REF_RGD_ID:10395241 8975288 Hbegf heparin binding EGF like growth factor gene DOID:630 genetic disease ISO RGD:1605733 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975288 Hbegf heparin binding EGF like growth factor gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8975288 Hbegf heparin binding EGF like growth factor gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16023256 8975288 Hbegf heparin binding EGF like growth factor gene DOID:783 end stage renal disease ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937979 8975288 Hbegf heparin binding EGF like growth factor gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16567187 8975288 Hbegf heparin binding EGF like growth factor gene DOID:8677 perinatal necrotizing enterocolitis treatment ISO RGD:1605733 D RGD:9068941 20200609 RGD PMID:18607263|REF_RGD_ID:10395236 8975288 Hbegf heparin binding EGF like growth factor gene DOID:9000217 Stomach Neoplasms ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15723263 8975288 Hbegf heparin binding EGF like growth factor gene DOID:9002371 Cardiotoxicity ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29305325 8975288 Hbegf heparin binding EGF like growth factor gene DOID:9004009 Reperfusion Injury ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7635938 8975288 Hbegf heparin binding EGF like growth factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605733 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8975288 Hbegf heparin binding EGF like growth factor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9709397 8975288 Hbegf heparin binding EGF like growth factor gene DOID:9006205 Animal Disease Models ISO RGD:1605733 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937979 8975288 Hbegf heparin binding EGF like growth factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605733 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8975304 Tmem132e transmembrane protein 132E gene DOID:0111634 autosomal recessive nonsyndromic deafness 99 ISO RGD:1603364 D RGD:7240710 20190710 OMIM 8975304 Tmem132e transmembrane protein 132E gene DOID:0111634 autosomal recessive nonsyndromic deafness 99 ISO RGD:1603364 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 99 PMID:12673573|PMID:25331638|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31656313 8975304 Tmem132e transmembrane protein 132E gene DOID:630 genetic disease ISO RGD:1603364 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8975304 Tmem132e transmembrane protein 132E gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8975320 Urod uroporphyrinogen decarboxylase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8975320 Urod uroporphyrinogen decarboxylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1351123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 8975320 Urod uroporphyrinogen decarboxylase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1351123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8975320 Urod uroporphyrinogen decarboxylase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351123 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8975320 Urod uroporphyrinogen decarboxylase gene DOID:13268 porphyria severity ISO RGD:3946 D RGD:9068941 20200609 RGD PMID:3596746|REF_RGD_ID:21081511 8975320 Urod uroporphyrinogen decarboxylase gene DOID:1612 breast cancer ISO RGD:1351123 D RGD:9068941 20200609 RGD protein:increased activity:tumor:in tissue explant cultures of breast cancers and corresponding normal breast tissue PMID:2276414|REF_RGD_ID:2301374 8975320 Urod uroporphyrinogen decarboxylase gene DOID:3132 porphyria cutanea tarda ISO RGD:1351123 D RGD:7240710 20180130 OMIM 8975320 Urod uroporphyrinogen decarboxylase gene DOID:3132 porphyria cutanea tarda ISO RGD:1351123 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial porphyria cutanea tarda | ClinVar Annotator: match by term: Porphyria cutanea tarda | ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY PMID:11069625|PMID:11202053|PMID:11295834|PMID:11719352|PMID:15186324|PMID:16095052|PMID:16199547|PMID:1634232|PMID:17240319|PMID:17576681|PMID:19233912|PMID:19419417|PMID:19656450|PMID:22382040|PMID:2243121|PMID:23545314|PMID:24777812|PMID:25525159|PMID:25741868|PMID:28492532|PMID:2892774|PMID:2920211|PMID:30514647|PMID:34367815|PMID:3775362|PMID:7706766|PMID:8644733|PMID:8896428|PMID:9536098|PMID:9792863 8975320 Urod uroporphyrinogen decarboxylase gene DOID:5230 hepatoerythropoietic porphyria ISO RGD:1351123 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hepatoerythropoietic porphyria PMID:10980536|PMID:11069625|PMID:15186324|PMID:1634232|PMID:1905636|PMID:23545314|PMID:25741868|PMID:28492532|PMID:2892774|PMID:2920211|PMID:3775362|PMID:7706766|PMID:8644733 8975320 Urod uroporphyrinogen decarboxylase gene DOID:630 genetic disease ISO RGD:1351123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975320 Urod uroporphyrinogen decarboxylase gene DOID:9005584 Hepatic Porphyrias ISO RGD:3946 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:6721832|REF_RGD_ID:4144806 8975320 Urod uroporphyrinogen decarboxylase gene DOID:9005584 Hepatic Porphyrias ISO RGD:735366 D RGD:9068941 20200609 RGD protein:decreased activity:liver (mouse) PMID:3271868|REF_RGD_ID:4145290 8975320 Urod uroporphyrinogen decarboxylase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1351123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21270338 8975320 Urod uroporphyrinogen decarboxylase gene DOID:9009031 Porphyria Cutanea Tarda, Type I ISO RGD:1351123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porphyria cutanea tarda, type I PMID:25741868|PMID:28492532|PMID:8644733 8975333 Vps28 VPS28 subunit of ESCRT-I gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1315210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8975333 Vps28 VPS28 subunit of ESCRT-I gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1315210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8975333 Vps28 VPS28 subunit of ESCRT-I gene DOID:4621 holoprosencephaly ISO RGD:1315210 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8975333 Vps28 VPS28 subunit of ESCRT-I gene DOID:630 genetic disease ISO RGD:1315210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975352 Fam184b family with sequence similarity 184 member B gene DOID:303 substance-related disorder ISO RGD:2301273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8975352 Fam184b family with sequence similarity 184 member B gene DOID:630 genetic disease ISO RGD:2301273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1346165 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD8+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:10763 hypertension disease_progression ISO RGD:61958 D RGD:9068941 20200609 RGD associated with SHRSP;mRNA,protein:increased expression, decreased expression:kidney (rat) PMID:17938382|REF_RGD_ID:1643008 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:1826 epilepsy ISO RGD:1346165 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:305 carcinoma ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:630 genetic disease ISO RGD:1346165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9000352 Vascular System Injuries ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29609002 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9002514 Neointima ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29609002 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9003936 Cardiomegaly ISO RGD:61958 D RGD:9068941 20200609 RGD PMID:11549339|REF_RGD_ID:1357201 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:62251 D RGD:9068941 20200609 RGD PMID:16403835|REF_RGD_ID:1580913 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1346165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 8975375 S1pr1 sphingosine-1-phosphate receptor 1 gene DOID:9269 maple syrup urine disease ISO RGD:1346165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8975384 Znf23 zinc finger protein 23 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8975384 Znf23 zinc finger protein 23 gene DOID:630 genetic disease ISO RGD:1316246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975384 Znf23 zinc finger protein 23 gene DOID:684 hepatocellular carcinoma ISO RGD:1316246 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21965783 8975398 Slc30a5 solute carrier family 30 member 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:33547425 8975398 Slc30a5 solute carrier family 30 member 5 gene DOID:630 genetic disease ISO RGD:1315825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975398 Slc30a5 solute carrier family 30 member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8975398 Slc30a5 solute carrier family 30 member 5 gene DOID:9007001 Bradycardia ISO RGD:1315826 D RGD:9068941 20200609 RGD PMID:12095919|REF_RGD_ID:1580628 8975423 Acy3 aminoacylase 3 gene DOID:1059 intellectual disability ISO RGD:1352202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8975423 Acy3 aminoacylase 3 gene DOID:630 genetic disease ISO RGD:1352202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975423 Acy3 aminoacylase 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1352202 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8975423 Acy3 aminoacylase 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1352202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8975436 Polr3k RNA polymerase III subunit K gene DOID:0070407 hypomyelinating leukodystrophy 21 ISO RGD:1350025 D RGD:7240710 20210526 OMIM 8975436 Polr3k RNA polymerase III subunit K gene DOID:0070407 hypomyelinating leukodystrophy 21 ISO RGD:1350025 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21 PMID:25741868|PMID:30584594 8975436 Polr3k RNA polymerase III subunit K gene DOID:630 genetic disease ISO RGD:1350025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975436 Polr3k RNA polymerase III subunit K gene DOID:9000217 Stomach Neoplasms ISO RGD:1350025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8975436 Polr3k RNA polymerase III subunit K gene DOID:9000918 Disease Progression ISO RGD:1350025 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8975451 Cep95 centrosomal protein 95 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1601939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 8975451 Cep95 centrosomal protein 95 gene DOID:630 genetic disease ISO RGD:1601939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975480 Krcc1 lysine rich coiled-coil 1 gene DOID:630 genetic disease ISO RGD:1605393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975490 Nicn1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:0060852 Pierson syndrome ISO RGD:1350970 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 8975490 Nicn1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:630 genetic disease ISO RGD:1350970 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8975490 Nicn1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:9000953 Glycine Encephalopathy 2 ISO RGD:1350970 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Glycine encephalopathy 2 PMID:16450403|PMID:28492532|PMID:9621520 8975490 Nicn1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1350970 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8975490 Nicn1 nicolin 1, tubulin polyglutamylase complex subunit gene DOID:9268 glycine encephalopathy ISO RGD:1350970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:16199547|PMID:16450403|PMID:17576681|PMID:19299230|PMID:23352163|PMID:25741868|PMID:26179960|PMID:26467025|PMID:27362913|PMID:27620832|PMID:28492532|PMID:30105116|PMID:8005589|PMID:9536098|PMID:9621520 8975500 Tm4sf5 transmembrane 4 L six family member 5 gene DOID:630 genetic disease ISO RGD:1318639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:0050885 IMAGe syndrome ISO RGD:1322980 D RGD:7240710 20180130 OMIM 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:0050885 IMAGe syndrome ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IMAGe syndrome PMID:15769992|PMID:17576681|PMID:22634751|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25057881|PMID:25262539|PMID:25614875|PMID:25741868|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31976094|PMID:33076988|PMID:34098225|PMID:9536098 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:0080365 endometrial hyperplasia ISO RGD:1322980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22064387 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:0080600 COVID-19 ISO RGD:1322980 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:0080773 delta beta-thalassemia ISO RGD:1322980 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:10591 pre-eclampsia ISO RGD:1322981 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:1324 lung cancer ISO RGD:727892 D RGD:9068941 20220707 RGD DNA:hypermethylation:promoter (rat) PMID:20512841|REF_RGD_ID:152998913 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:1324 lung cancer disease_progression ISO RGD:727892 D RGD:9068941 20220707 RGD protein:decreased expression:lung (rat) PMID:20512841|REF_RGD_ID:152998913 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:1909 melanoma ISO RGD:1322980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:2018 hyperinsulinism ISO RGD:1322980 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:pancreatic islet PMID:11723059|REF_RGD_ID:2311334 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:299 adenocarcinoma ISO RGD:1322980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:7240710 20180130 OMIM 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:18414213|PMID:19386358|PMID:20503313|PMID:21910219|PMID:22634751|PMID:23197429|PMID:24033266|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31804259|PMID:31976094|PMID:33076988|PMID:33443097|PMID:34065128|PMID:34098225|PMID:8841187|PMID:9341892|PMID:9536098 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:1322980 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:18414213|PMID:19386358|PMID:19843502|PMID:20503313|PMID:21910219|PMID:22140035|PMID:22634751|PMID:23197429|PMID:24033266|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:27436784|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31804259|PMID:31976094|PMID:33076988|PMID:33443097|PMID:34065128|PMID:34098225|PMID:34299047|PMID:8841187|PMID:9311733|PMID:9341892|PMID:9536098 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:630 genetic disease ISO RGD:1322980 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20503313|PMID:22634751|PMID:24033266|PMID:24098681|PMID:24313804|PMID:25741868|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:34098225|PMID:9536098 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:684 hepatocellular carcinoma severity ISO RGD:1322980 D RGD:9068941 20220707 RGD protein:decreased expression:liver (human) PMID:26606000|REF_RGD_ID:11354707 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:727892 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:727892 D RGD:9068941 20220707 RGD protein:decreased expression:liver (rat) PMID:26606000|REF_RGD_ID:11354707 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:727892 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:727892 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1322980 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:9005172 Lung Neoplasms ISO RGD:1322980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20512841|PMID:21552421 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1322980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:24065356|PMID:24624461|PMID:28492532|PMID:31976094|PMID:33076988 8975514 Cdkn1c cyclin dependent kinase inhibitor 1C gene DOID:9007715 Endometrial Neoplasms ISO RGD:1322980 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22064387 8975520 Mrpl14 mitochondrial ribosomal protein L14 gene DOID:630 genetic disease ISO RGD:1314744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975539 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1348258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 8975539 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348258 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8975539 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1348258 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: frontal cortex PMID:15485486|REF_RGD_ID:10411900 8975539 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1616662 D RGD:9068941 20200609 RGD mRNA:decreased expression:neocortex (mouse) PMID:21912965|REF_RGD_ID:9686062 8975539 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:11446 sciatic neuropathy ISO RGD:1589169 D RGD:9068941 20200609 RGD PMID:17855600|REF_RGD_ID:10411908 8975539 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:12849 autistic disorder ISO RGD:1348258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8975539 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:1824 status epilepticus ISO RGD:1589169 D RGD:9068941 20200609 RGD PMID:20971086|REF_RGD_ID:10411905 8975539 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:1824 status epilepticus ISO RGD:1589169 D RGD:9068941 20200609 RGD mRNA:decreased expression:subiculum, perirhinal cortex, entorhinal cortex (rat) PMID:17942314|REF_RGD_ID:9686050 8975539 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:1348258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20971086 8975539 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:630 genetic disease ISO RGD:1348258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975539 Kcnc4 potassium voltage-gated channel subfamily C member 4 gene DOID:9002211 Hyperalgesia ISO RGD:1589169 D RGD:9068941 20200609 RGD PMID:17855600|REF_RGD_ID:10411908 8975562 Bcl11b BCL11 transcription factor B gene DOID:0060041 autism spectrum disorder ISO RGD:1322422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8975562 Bcl11b BCL11 transcription factor B gene DOID:0060058 lymphoma ISO RGD:1322422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17941976 8975562 Bcl11b BCL11 transcription factor B gene DOID:0080600 COVID-19 ISO RGD:1322422 D RGD:9068941 20200702 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8975562 Bcl11b BCL11 transcription factor B gene DOID:0110401 retinitis pigmentosa 74 ISO RGD:1322422 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: BCL11B-related condition PMID:25741868|PMID:28492532 8975562 Bcl11b BCL11 transcription factor B gene DOID:0111962 combined immunodeficiency ISO RGD:1322422 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:25627829|PMID:27959755 8975562 Bcl11b BCL11 transcription factor B gene DOID:0111979 immunodeficiency 49 ISO RGD:1322422 D RGD:7240710 20190315 OMIM 8975562 Bcl11b BCL11 transcription factor B gene DOID:0111979 immunodeficiency 49 ISO RGD:1322422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BCL11B-related BAFopathy | ClinVar Annotator: match by term: Immunodeficiency 49 PMID:25627829|PMID:25741868|PMID:27959755|PMID:28492532|PMID:29985992|PMID:32185379 8975562 Bcl11b BCL11 transcription factor B gene DOID:10907 microcephaly ISO RGD:1322422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8975562 Bcl11b BCL11 transcription factor B gene DOID:12849 autistic disorder ISO RGD:1322422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:28492532 8975562 Bcl11b BCL11 transcription factor B gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1322422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20972433 8975562 Bcl11b BCL11 transcription factor B gene DOID:630 genetic disease ISO RGD:1322422 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:25741868|PMID:27535533|PMID:28303347|PMID:28492532|PMID:29985992|PMID:32659295 8975562 Bcl11b BCL11 transcription factor B gene DOID:9009214 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES ISO RGD:1322422 D RGD:7240710 20190315 OMIM 8975562 Bcl11b BCL11 transcription factor B gene DOID:9009214 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES ISO RGD:1322422 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities PMID:25741868|PMID:27959755|PMID:28492532|PMID:29985992|PMID:32659295|PMID:34580403 8975570 Snapin SNAP associated protein gene DOID:0080600 COVID-19 ISO RGD:1351269 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8975570 Snapin SNAP associated protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8975570 Snapin SNAP associated protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8975570 Snapin SNAP associated protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8975570 Snapin SNAP associated protein gene DOID:1540 parathyroid carcinoma ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8975570 Snapin SNAP associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8975570 Snapin SNAP associated protein gene DOID:630 genetic disease ISO RGD:1351269 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975570 Snapin SNAP associated protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8975578 Trim66 tripartite motif containing 66 gene DOID:630 genetic disease ISO RGD:1344439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975620 Marcksl1 MARCKS like 1 gene DOID:11832 visual epilepsy ISO RGD:621197 D RGD:9068941 20200609 RGD PMID:11054811|REF_RGD_ID:9685329 8975620 Marcksl1 MARCKS like 1 gene DOID:630 genetic disease ISO RGD:1352052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975626 Cmss1 cms1 ribosomal small subunit homolog gene DOID:630 genetic disease ISO RGD:1601841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975645 Irx2 iroquois homeobox 2 gene DOID:630 genetic disease ISO RGD:1346652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975645 Irx2 iroquois homeobox 2 gene DOID:850 lung disease ISO RGD:1346652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21238641 8975653 Celf5 CUGBP Elav-like family member 5 gene DOID:630 genetic disease ISO RGD:1345217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975653 Celf5 CUGBP Elav-like family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8975690 Zcwpw1 zinc finger CW-type and PWWP domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1313418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8975690 Zcwpw1 zinc finger CW-type and PWWP domain containing 1 gene DOID:630 genetic disease ISO RGD:1313418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975726 Zfand1 zinc finger AN1-type containing 1 gene DOID:630 genetic disease ISO RGD:1605942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975744 Upk1a uroplakin 1A gene DOID:0110222 Brugada syndrome 5 ISO RGD:1320413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8975744 Upk1a uroplakin 1A gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1320413 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8975744 Upk1a uroplakin 1A gene DOID:543 dystonia ISO RGD:1320413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8975744 Upk1a uroplakin 1A gene DOID:630 genetic disease ISO RGD:1320413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975756 Cdan1 codanin 1 gene DOID:0111396 congenital dyserythropoietic anemia type I ISO RGD:1315579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I PMID:12434312|PMID:12825070|PMID:16098079|PMID:16141353|PMID:16754775|PMID:17576681|PMID:18081704|PMID:18575862|PMID:20301759|PMID:22407294|PMID:23065504|PMID:24196372|PMID:25741868|PMID:25741869|PMID:27432187|PMID:27827297|PMID:28102861|PMID:28132690|PMID:28492532|PMID:28755517|PMID:29031773|PMID:29668551|PMID:29676459|PMID:29901818|PMID:29936674|PMID:30487145|PMID:30836435|PMID:31900952|PMID:32160409|PMID:32518175|PMID:33401150|PMID:33777192|PMID:34782754|PMID:9536098 8975756 Cdan1 codanin 1 gene DOID:0111398 congenital dyserythropoietic anemia type Ia ISO RGD:1315579 D RGD:7240710 20191009 OMIM 8975756 Cdan1 codanin 1 gene DOID:0111398 congenital dyserythropoietic anemia type Ia ISO RGD:1315579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia PMID:12434312|PMID:16098079|PMID:17576681|PMID:18081704|PMID:20301759|PMID:24196372|PMID:25741868|PMID:25741869|PMID:26467025|PMID:27432187|PMID:28102861|PMID:28492532|PMID:28755517|PMID:29031773|PMID:29599085|PMID:29676459|PMID:29936674|PMID:30836435|PMID:31900952|PMID:33401150|PMID:34782754|PMID:9536098 8975756 Cdan1 codanin 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1315579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia 8975756 Cdan1 codanin 1 gene DOID:2717 Bloom syndrome ISO RGD:1315579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8975756 Cdan1 codanin 1 gene DOID:630 genetic disease ISO RGD:1315579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8975756 Cdan1 codanin 1 gene DOID:9256 colorectal cancer ISO RGD:1315579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8975785 Lgi2 leucine rich repeat LGI family member 2 gene DOID:1826 epilepsy ISO RGD:12056737 D RGD:9068941 20230824 OMIA Epilepsy, benign familial juvenile PMID:17552452|PMID:21829378|PMID:23683021|PMID:24070682|PMID:25945683|PMID:26931499|PMID:37582787 8975785 Lgi2 leucine rich repeat LGI family member 2 gene DOID:630 genetic disease ISO RGD:1321270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975797 Dennd6b DENN domain containing 6B gene DOID:0060041 autism spectrum disorder ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8975797 Dennd6b DENN domain containing 6B gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1606364 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8975797 Dennd6b DENN domain containing 6B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8975797 Dennd6b DENN domain containing 6B gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8975797 Dennd6b DENN domain containing 6B gene DOID:10581 metachromatic leukodystrophy ISO RGD:1606364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8975797 Dennd6b DENN domain containing 6B gene DOID:1059 intellectual disability ISO RGD:1606364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8975797 Dennd6b DENN domain containing 6B gene DOID:630 genetic disease ISO RGD:1606364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975820 Dennd4c DENN domain containing 4C gene DOID:630 genetic disease ISO RGD:1318285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975871 Garin1a golgi associated RAB2 interactor 1A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8975871 Garin1a golgi associated RAB2 interactor 1A gene DOID:630 genetic disease ISO RGD:1604702 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975897 Cep55 centrosomal protein 55 gene DOID:0050778 Meckel syndrome ISO RGD:1623932 D RGD:9068941 20240314 MouseDO 8975897 Cep55 centrosomal protein 55 gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1313311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 8975897 Cep55 centrosomal protein 55 gene DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 ISO RGD:1313311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 PMID:25741868 8975897 Cep55 centrosomal protein 55 gene DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly ISO RGD:1313311 D RGD:7240710 20190315 OMIM 8975897 Cep55 centrosomal protein 55 gene DOID:0080600 COVID-19 ISO RGD:1313311 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8975897 Cep55 centrosomal protein 55 gene DOID:11612 polycystic ovary syndrome ISO RGD:1313311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8975897 Cep55 centrosomal protein 55 gene DOID:630 genetic disease ISO RGD:1313311 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16198290|PMID:25741868|PMID:28264986|PMID:28295209|PMID:28492532|PMID:30622327|PMID:32100459 8975897 Cep55 centrosomal protein 55 gene DOID:684 hepatocellular carcinoma ISO RGD:1313311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8975897 Cep55 centrosomal protein 55 gene DOID:9001099 Hydranencephaly with Renal Aplasia-Dysplasia ISO RGD:1313311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia PMID:25741868|PMID:28264986|PMID:28295209|PMID:28492532|PMID:30622327|PMID:32100459 8975913 Actr3 actin related protein 3 gene DOID:0080199 colorectal carcinoma severity ISO RGD:736322 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:14990971|REF_RGD_ID:11570560 8975913 Actr3 actin related protein 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:71024 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L111F (rat) PMID:18064521|REF_RGD_ID:2292230 8975913 Actr3 actin related protein 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:71024 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:27251563|REF_RGD_ID:11575049 8975913 Actr3 actin related protein 3 gene DOID:13768 opisthorchiasis ISO RGD:736322 D RGD:9068941 20200609 RGD PMID:25809205|REF_RGD_ID:11570559 8975913 Actr3 actin related protein 3 gene DOID:3068 glioblastoma ISO RGD:736322 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:25682201|REF_RGD_ID:11570557 8975913 Actr3 actin related protein 3 gene DOID:4948 gallbladder carcinoma severity ISO RGD:736322 D RGD:9068941 20200609 RGD Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) PMID:23320827|REF_RGD_ID:11571623 8975913 Actr3 actin related protein 3 gene DOID:5419 schizophrenia ISO RGD:71024 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:23942359|REF_RGD_ID:11571618 8975913 Actr3 actin related protein 3 gene DOID:5419 schizophrenia ISO RGD:736322 D RGD:9068941 20200609 RGD protein:altered expression:anterior cingulate cortex (human) PMID:16491132|REF_RGD_ID:11571621 8975913 Actr3 actin related protein 3 gene DOID:630 genetic disease ISO RGD:736322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975913 Actr3 actin related protein 3 gene DOID:9002775 Cognitive Dysfunction ISO RGD:71024 D RGD:9068941 20200609 RGD protein:altered localization:hippocampus (rat) PMID:24069387|REF_RGD_ID:9999367 8975913 Actr3 actin related protein 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8975942 Cadm3 cell adhesion molecule 3 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8975942 Cadm3 cell adhesion molecule 3 gene DOID:10283 prostate cancer ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8975942 Cadm3 cell adhesion molecule 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8975942 Cadm3 cell adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1315991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8975942 Cadm3 cell adhesion molecule 3 gene DOID:9001481 Charcot-Marie-Tooth Disease Axonal Type 2FF ISO RGD:1315991 D RGD:7240710 20210929 OMIM 8975942 Cadm3 cell adhesion molecule 3 gene DOID:9001481 Charcot-Marie-Tooth Disease Axonal Type 2FF ISO RGD:1315991 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2FF PMID:25741868|PMID:33889941 8975942 Cadm3 cell adhesion molecule 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315991 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8975974 Wiz WIZ zinc finger gene DOID:1936 atherosclerosis ISO RGD:1607009 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 8975974 Wiz WIZ zinc finger gene DOID:630 genetic disease ISO RGD:1607009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976015 Tbc1d2b TBC1 domain family member 2B gene DOID:2717 Bloom syndrome ISO RGD:1604393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8976015 Tbc1d2b TBC1 domain family member 2B gene DOID:630 genetic disease ISO RGD:1604393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976015 Tbc1d2b TBC1 domain family member 2B gene DOID:9002993 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH ISO RGD:1604393 D RGD:7240710 20210818 OMIM 8976015 Tbc1d2b TBC1 domain family member 2B gene DOID:9002993 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH ISO RGD:1604393 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth PMID:25741868|PMID:32623794 8976015 Tbc1d2b TBC1 domain family member 2B gene DOID:9256 colorectal cancer ISO RGD:1604393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8976033 Jkamp JNK1/MAPK8 associated membrane protein gene DOID:630 genetic disease ISO RGD:1318960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976046 Cnmd chondromodulin gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1347278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8976046 Cnmd chondromodulin gene DOID:1059 intellectual disability ISO RGD:1347278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8976046 Cnmd chondromodulin gene DOID:630 genetic disease ISO RGD:1347278 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976061 Lactb lactamase beta gene DOID:0110935 nemaline myopathy 6 ISO RGD:1312433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8976061 Lactb lactamase beta gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1312433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8976061 Lactb lactamase beta gene DOID:2717 Bloom syndrome ISO RGD:1312433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8976061 Lactb lactamase beta gene DOID:630 genetic disease ISO RGD:1312433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976061 Lactb lactamase beta gene DOID:9256 colorectal cancer ISO RGD:1312433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8976061 Lactb lactamase beta gene DOID:9970 obesity ISO RGD:1312433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344982 8976072 Crim1 cysteine rich transmembrane BMP regulator 1 gene DOID:630 genetic disease ISO RGD:1318641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976092 Ddx24 DEAD-box helicase 24 gene DOID:0080054 achondrogenesis type IA ISO RGD:1353174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8976092 Ddx24 DEAD-box helicase 24 gene DOID:0081063 DICER1 syndrome ISO RGD:1353174 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 8976092 Ddx24 DEAD-box helicase 24 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1353174 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 8976092 Ddx24 DEAD-box helicase 24 gene DOID:630 genetic disease ISO RGD:1353174 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976113 Cela3b chymotrypsin like elastase 3B gene DOID:0060369 Parkinson's disease 6 ISO RGD:1317234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8976113 Cela3b chymotrypsin like elastase 3B gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1317234 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8976113 Cela3b chymotrypsin like elastase 3B gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1317234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8976113 Cela3b chymotrypsin like elastase 3B gene DOID:13316 exocrine pancreatic insufficiency ISO RGD:1317234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14687815 8976113 Cela3b chymotrypsin like elastase 3B gene DOID:630 genetic disease ISO RGD:1317234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976113 Cela3b chymotrypsin like elastase 3B gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1317234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8976170 Mlh3 mutL homolog 3 gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:25741868 8976170 Mlh3 mutL homolog 3 gene DOID:0070271 Lynch syndrome 1 ISO RGD:1319451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:28492532 8976170 Mlh3 mutL homolog 3 gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:1319451 D RGD:7240710 20240320 OMIM 8976170 Mlh3 mutL homolog 3 gene DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 ISO RGD:1319451 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 PMID:11586295|PMID:12702580|PMID:12800209|PMID:16199547|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18414213|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25142776|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26296701|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:29212164|PMID:29641532|PMID:29945567|PMID:30614234|PMID:31043711|PMID:31297992|PMID:31921681|PMID:32469048|PMID:32984025|PMID:33294277|PMID:34106356|PMID:34408140|PMID:9536098 8976170 Mlh3 mutL homolog 3 gene DOID:1059 intellectual disability ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8976170 Mlh3 mutL homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1319451 D RGD:7240710 20240320 OMIM 8976170 Mlh3 mutL homolog 3 gene DOID:1380 endometrial cancer ISO RGD:1319451 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Endometrial cancer PMID:12702580|PMID:28195393|PMID:28492532|PMID:31297992 8976170 Mlh3 mutL homolog 3 gene DOID:1520 colon carcinoma ISO RGD:1319451 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:11317354|PMID:28492532|PMID:35292633 8976170 Mlh3 mutL homolog 3 gene DOID:1612 breast cancer ISO RGD:1319451 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 8976170 Mlh3 mutL homolog 3 gene DOID:2394 ovarian cancer ISO RGD:1319451 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 8976170 Mlh3 mutL homolog 3 gene DOID:2871 endometrial carcinoma ISO RGD:1319451 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:12702580|PMID:17656264|PMID:22290698|PMID:25741868|PMID:28492532|PMID:29212164 8976170 Mlh3 mutL homolog 3 gene DOID:3459 breast carcinoma ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868 8976170 Mlh3 mutL homolog 3 gene DOID:3883 Lynch syndrome ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:11586295|PMID:18521850|PMID:19156873|PMID:25637381|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29212164 8976170 Mlh3 mutL homolog 3 gene DOID:3883 Lynch syndrome ISO RGD:1319451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:11586295|PMID:12800209|PMID:18521850|PMID:19156873|PMID:25637381|PMID:25741868|PMID:28492532|PMID:29212164 8976170 Mlh3 mutL homolog 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 8976170 Mlh3 mutL homolog 3 gene DOID:630 genetic disease ISO RGD:1319451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8976170 Mlh3 mutL homolog 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1319451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16981255 8976170 Mlh3 mutL homolog 3 gene DOID:9002704 Leukoencephalopathies ISO RGD:1319451 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:25741868 8976170 Mlh3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer PMID:25741868|PMID:28492532 8976170 Mlh3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33606809|PMID:33821390|PMID:9536098 8976170 Mlh3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33294277|PMID:33606809|PMID:33821390|PMID:34106356|PMID:9536098 8976170 Mlh3 mutL homolog 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319451 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11317354|PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31297992|PMID:31921681|PMID:32469048|PMID:32984025|PMID:33294277|PMID:33606809|PMID:33821390|PMID:34106356|PMID:34408140|PMID:35292633|PMID:9536098 8976170 Mlh3 mutL homolog 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1319451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8976170 Mlh3 mutL homolog 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319451 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17656264 8976170 Mlh3 mutL homolog 3 gene DOID:9256 colorectal cancer ISO RGD:1319451 D RGD:7240710 20240320 OMIM 8976170 Mlh3 mutL homolog 3 gene DOID:9256 colorectal cancer ISO RGD:1319451 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:25741868|PMID:28492532 8976170 Mlh3 mutL homolog 3 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1319451 D RGD:9068941 20220825 RGD DNA:SNP:3'utr: (rs108621) PMID:29516665|REF_RGD_ID:153344543 8976208 Gtf3a general transcription factor IIIA gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732489 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8976208 Gtf3a general transcription factor IIIA gene DOID:630 genetic disease ISO RGD:732489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976223 Impa2 inositol monophosphatase 2 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8976223 Impa2 inositol monophosphatase 2 gene DOID:1059 intellectual disability ISO RGD:1347157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8976223 Impa2 inositol monophosphatase 2 gene DOID:289 endometriosis ISO RGD:1347157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8976223 Impa2 inositol monophosphatase 2 gene DOID:3312 bipolar disorder ISO RGD:1347157 D RGD:9068941 20200609 RGD PMID:11673796|PMID:9322233|REF_RGD_ID:6480265|REF_RGD_ID:6480269 8976223 Impa2 inositol monophosphatase 2 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1347157 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-461C>T, -207T>C(human) PMID:14699425|REF_RGD_ID:6480267 8976223 Impa2 inositol monophosphatase 2 gene DOID:5419 schizophrenia ISO RGD:1347157 D RGD:9068941 20200609 RGD DNA:polymorphisms:intron,exons:-15G>A, 58G>A, 800C>T (human) PMID:11317223|REF_RGD_ID:6480266 8976223 Impa2 inositol monophosphatase 2 gene DOID:543 dystonia ISO RGD:1347157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 8976223 Impa2 inositol monophosphatase 2 gene DOID:630 genetic disease ISO RGD:1347157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976223 Impa2 inositol monophosphatase 2 gene DOID:9007956 Febrile Seizures ISO RGD:1347157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15557493 8976235 Tmem256 transmembrane protein 256 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8976235 Tmem256 transmembrane protein 256 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 8976235 Tmem256 transmembrane protein 256 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606934 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8976235 Tmem256 transmembrane protein 256 gene DOID:1059 intellectual disability ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8976235 Tmem256 transmembrane protein 256 gene DOID:12177 common variable immunodeficiency ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8976235 Tmem256 transmembrane protein 256 gene DOID:2729 dyskeratosis congenita ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8976235 Tmem256 transmembrane protein 256 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606934 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8976235 Tmem256 transmembrane protein 256 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8976235 Tmem256 transmembrane protein 256 gene DOID:630 genetic disease ISO RGD:1606934 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976243 Nipal2 NIPA like domain containing 2 gene DOID:0111590 Cohen syndrome ISO RGD:1605636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8976243 Nipal2 NIPA like domain containing 2 gene DOID:630 genetic disease ISO RGD:1605636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976243 Nipal2 NIPA like domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8976262 Plekha8 pleckstrin homology domain containing A8 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1348276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 8976262 Plekha8 pleckstrin homology domain containing A8 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348276 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8976262 Plekha8 pleckstrin homology domain containing A8 gene DOID:630 genetic disease ISO RGD:1348276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:0050879 fragile X-associated tremor/ataxia syndrome ISO RGD:735919 D RGD:7240710 20180130 OMIM 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:0050879 fragile X-associated tremor/ataxia syndrome ISO RGD:735919 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:0060001 withdrawal disorder ISO RGD:2623 D RGD:9068941 20200609 RGD mRNA:decreased expression:prefrontal cortex (rat) PMID:24810662|REF_RGD_ID:11667955 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:2623 D RGD:9068941 20200609 RGD PMID:24773431|REF_RGD_ID:9831152 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:735920 D RGD:9068941 20220825 MouseDO 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:2623 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, cytosol (rat) PMID:23831253|REF_RGD_ID:11667971 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:0080600 COVID-19 ISO RGD:735919 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:0080857 primary ovarian insufficiency 1 ISO RGD:735919 D RGD:7240710 20200219 OMIM 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:1059 intellectual disability ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:12849 autistic disorder ISO RGD:735919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:25741868|PMID:30208311 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome ISO RGD:735919 D RGD:7240710 20180130 OMIM 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:14261 fragile X syndrome ISO RGD:735919 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fragile X syndrome PMID:15805463|PMID:18664458|PMID:21267007|PMID:25171808|PMID:25741868|PMID:33181255|PMID:35091116|PMID:7530551|PMID:7633450|PMID:7670500|PMID:8156595|PMID:8490650|PMID:9659908 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:14447 gonadal dysgenesis ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22043169 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:1561 cognitive disorder ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22043169 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:1574 alcohol use disorder ISO RGD:2623 D RGD:9068941 20231216 RGD mRNA:increased expression:cerebellum PMID:34453331|REF_RGD_ID:401938639 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:2030 anxiety disorder ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28616095 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:224 transient cerebral ischemia ISO RGD:2623 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:striatum (rat) PMID:22817682|REF_RGD_ID:11566024 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12548733 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:630 genetic disease ISO RGD:735919 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10448821|PMID:10611212|PMID:12418611|PMID:12529854|PMID:12871874|PMID:15052536|PMID:16700053|PMID:17166801|PMID:19367323|PMID:20799337|PMID:22463693|PMID:24448548|PMID:25171808|PMID:25561520|PMID:25741868|PMID:26819560|PMID:26880065|PMID:29178241|PMID:8037202|PMID:8490650|PMID:9606468 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:9000998 Brain Injuries ISO RGD:2623 D RGD:9068941 20200609 RGD protein:altered localization:hippocampus (rat) PMID:16510718|REF_RGD_ID:11667962 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:9001487 Facies ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22043169 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20425835 8976284 Fmr1 Fragile X messenger ribonucleoprotein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17065172|PMID:22043169 8976325 Prtg protogenin gene DOID:12849 autistic disorder ISO RGD:1606409 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8976325 Prtg protogenin gene DOID:2717 Bloom syndrome ISO RGD:1606409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8976325 Prtg protogenin gene DOID:630 genetic disease ISO RGD:1606409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976325 Prtg protogenin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8976325 Prtg protogenin gene DOID:9256 colorectal cancer ISO RGD:1606409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8976350 Dlx6 distal-less homeobox 6 gene DOID:0090021 split hand-foot malformation 1 ISO RGD:1557991 D RGD:9068941 20220825 MouseDO OMIM:183600 8976350 Dlx6 distal-less homeobox 6 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:12322400 D RGD:9068941 20230511 OMIA Cleft palate 1, DLX6-related PMID:24699068|PMID:28738009|PMID:28887848|PMID:34838248 8976350 Dlx6 distal-less homeobox 6 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347834 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8976350 Dlx6 distal-less homeobox 6 gene DOID:630 genetic disease ISO RGD:1347834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976350 Dlx6 distal-less homeobox 6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347834 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14666512 8976357 Med19 mediator complex subunit 19 gene DOID:1059 intellectual disability ISO RGD:1344644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8976357 Med19 mediator complex subunit 19 gene DOID:630 genetic disease ISO RGD:1344644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976366 Heatr9 HEAT repeat containing 9 gene DOID:630 genetic disease ISO RGD:1604716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976389 Ezh1 enhancer of zeste 1 polycomb repressive complex 2 subunit gene DOID:630 genetic disease ISO RGD:1312813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976389 Ezh1 enhancer of zeste 1 polycomb repressive complex 2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312813 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: EZH1-neurodevelopmental syndrome PMID:25741868 8976416 Uckl1 uridine-cytidine kinase 1 like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8976416 Uckl1 uridine-cytidine kinase 1 like 1 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8976416 Uckl1 uridine-cytidine kinase 1 like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8976416 Uckl1 uridine-cytidine kinase 1 like 1 gene DOID:630 genetic disease ISO RGD:1342858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976447 Ctsw cathepsin W gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1319657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8976447 Ctsw cathepsin W gene DOID:1059 intellectual disability ISO RGD:1319657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8976447 Ctsw cathepsin W gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1319657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8976447 Ctsw cathepsin W gene DOID:2746 glycogen storage disease V ISO RGD:1319657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8976447 Ctsw cathepsin W gene DOID:630 genetic disease ISO RGD:1319657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976447 Ctsw cathepsin W gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8976447 Ctsw cathepsin W gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8976471 Ppm1k protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:6000 congestive heart failure ISO RGD:1353112 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8976471 Ppm1k protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:630 genetic disease ISO RGD:1353112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8976471 Ppm1k protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8976471 Ppm1k protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:9269 maple syrup urine disease ISO RGD:1353112 D RGD:7240710 20180130 OMIM 8976471 Ppm1k protein phosphatase, Mg2+/Mn2+ dependent 1K gene DOID:9269 maple syrup urine disease ISO RGD:1353112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant PMID:17576681|PMID:23086801|PMID:28492532|PMID:9536098 8976483 Nek2 NIMA related kinase 2 gene DOID:0080600 COVID-19 ISO RGD:732517 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8976483 Nek2 NIMA related kinase 2 gene DOID:0110359 retinitis pigmentosa 67 ISO RGD:732517 D RGD:7240710 20180130 OMIM 8976483 Nek2 NIMA related kinase 2 gene DOID:0110359 retinitis pigmentosa 67 ISO RGD:732517 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 67 PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532 8976483 Nek2 NIMA related kinase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:732517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8976483 Nek2 NIMA related kinase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28509438 8976483 Nek2 NIMA related kinase 2 gene DOID:630 genetic disease ISO RGD:732517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8976483 Nek2 NIMA related kinase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8976483 Nek2 NIMA related kinase 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28509438 8976483 Nek2 NIMA related kinase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8976495 Rabggtb Rab geranylgeranyltransferase subunit beta gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:736470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 8976495 Rabggtb Rab geranylgeranyltransferase subunit beta gene DOID:630 genetic disease ISO RGD:736470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976520 Stx1b syntaxin 1B gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus 8976520 Stx1b syntaxin 1B gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 8976520 Stx1b syntaxin 1B gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:736110 D RGD:7240710 20180130 OMIM 8976520 Stx1b syntaxin 1B gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:736110 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:11591834|PMID:16199547|PMID:17576681|PMID:25362483|PMID:25741868|PMID:26467025|PMID:26818399|PMID:28166811|PMID:28492532|PMID:30737342|PMID:31273778|PMID:9536098 8976520 Stx1b syntaxin 1B gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736111 D RGD:9068941 20200609 RGD PMID:26604869|REF_RGD_ID:12903957 8976520 Stx1b syntaxin 1B gene DOID:1826 epilepsy ISO RGD:736110 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 8976520 Stx1b syntaxin 1B gene DOID:630 genetic disease ISO RGD:736110 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18691641|PMID:25362483|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30737342 8976520 Stx1b syntaxin 1B gene DOID:9001793 Generalized Epilepsy ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8976520 Stx1b syntaxin 1B gene DOID:9002865 Neonatal Hemochromatosis ISO RGD:736110 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Neonatal hemochromatosis PMID:25741868 8976520 Stx1b syntaxin 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25362483|PMID:25741868 8976520 Stx1b syntaxin 1B gene DOID:9007956 Febrile Seizures ISO RGD:736110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25362483 8976543 Nktr natural killer cell triggering receptor gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1353165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 8976543 Nktr natural killer cell triggering receptor gene DOID:630 genetic disease ISO RGD:1353165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976566 Fam216b family with sequence similarity 216 member B gene DOID:630 genetic disease ISO RGD:1605573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976579 Atp13a3 ATPase 13A3 gene DOID:630 genetic disease ISO RGD:1353842 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8976579 Atp13a3 ATPase 13A3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353842 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:28492532|PMID:30679663|PMID:31727138|PMID:34493544|PMID:35204766 8976579 Atp13a3 ATPase 13A3 gene DOID:9007822 Primary Pulmonary Hypertension, 5 ISO RGD:1353842 D RGD:7240710 20220608 OMIM 8976579 Atp13a3 ATPase 13A3 gene DOID:9007822 Primary Pulmonary Hypertension, 5 ISO RGD:1353842 D RGD:8554872 20230905 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, autosomal recessive PMID:25741868|PMID:28492532|PMID:30679663|PMID:31727138|PMID:34493544|PMID:35204766 8976579 Atp13a3 ATPase 13A3 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1353842 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:28492532|PMID:30679663|PMID:31727138|PMID:34493544|PMID:35204766 8976625 Fktn fukutin gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1320791 D RGD:7240710 20180130 OMIM 8976625 Fktn fukutin gene DOID:0050559 Fukuyama congenital muscular dystrophy ISO RGD:1320791 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related PMID:10545611|PMID:11153909|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15103718|PMID:15833426|PMID:16222679|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21191726|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31742715|PMID:31983221|PMID:32721234|PMID:33200426|PMID:34008892|PMID:35131284|PMID:35587316|PMID:35843586|PMID:9536098|PMID:9690476 8976625 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:30060766|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476 8976625 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:30060766|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476 8976625 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476 8976625 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32746448|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:35131284|PMID:35175440|PMID:9536098|PMID:9690476 8976625 Fktn fukutin gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1320791 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21191726|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31742715|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32721234|PMID:32746448|PMID:32969603|PMID:33048919|PMID:33200426|PMID:34008892|PMID:34120883|PMID:35131284|PMID:35175440|PMID:35587316|PMID:35843586|PMID:9536098|PMID:9690476 8976625 Fktn fukutin gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1320792 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 8976625 Fktn fukutin gene DOID:0050700 cardiomyopathy ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:14627679|PMID:17878207|PMID:21102627|PMID:25741868|PMID:26467025|PMID:28492532 8976625 Fktn fukutin gene DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L ISO RGD:1320791 D RGD:9068941 20200609 RGD DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human) PMID:17044012|REF_RGD_ID:11576328 8976625 Fktn fukutin gene DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M ISO RGD:1320791 D RGD:7240710 20180130 OMIM 8976625 Fktn fukutin gene DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2M | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 PMID:10545611|PMID:11165248|PMID:14627679|PMID:17044012|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21520333|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:29590070|PMID:30060766|PMID:30975432|PMID:31983221|PMID:35131284 8976625 Fktn fukutin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1320791 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532|PMID:32969603|PMID:33048919|PMID:34120883|PMID:35175440 8976625 Fktn fukutin gene DOID:0110444 dilated cardiomyopathy 1X ISO RGD:1320791 D RGD:7240710 20180130 OMIM 8976625 Fktn fukutin gene DOID:0110444 dilated cardiomyopathy 1X ISO RGD:1320791 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Dilated cardiomyopathy 1X PMID:10545611|PMID:11153909|PMID:11165248|PMID:14627679|PMID:15103718|PMID:15833426|PMID:16199547|PMID:16222679|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21191726|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31742715|PMID:31862442|PMID:31983221|PMID:32721234|PMID:32969603|PMID:33048919|PMID:33200426|PMID:34008892|PMID:34120883|PMID:35131284|PMID:35175440|PMID:35587316|PMID:35843586|PMID:9536098|PMID:9690476 8976625 Fktn fukutin gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1320791 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21191726|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31742715|PMID:31983221|PMID:32721234|PMID:32969603|PMID:33048919|PMID:33200426|PMID:34008892|PMID:34120883|PMID:35131284|PMID:35175440|PMID:35587316|PMID:35843586|PMID:9536098|PMID:9690476 8976625 Fktn fukutin gene DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 ISO RGD:1320791 D RGD:7240710 20180130 OMIM 8976625 Fktn fukutin gene DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 ISO RGD:1320791 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED PMID:10545611|PMID:11165248|PMID:14627679|PMID:17044012|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21520333|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:29590070|PMID:30060766|PMID:30975432|PMID:31983221|PMID:35131284 8976625 Fktn fukutin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18414213|PMID:22037554|PMID:25741868|PMID:28492532 8976625 Fktn fukutin gene DOID:12930 dilated cardiomyopathy ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17597323|PMID:25741868|PMID:26633542|PMID:28492532 8976625 Fktn fukutin gene DOID:630 genetic disease ISO RGD:1320791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18752264|PMID:21520333|PMID:22275357|PMID:25741868|PMID:26467025|PMID:28492532 8976625 Fktn fukutin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:26467025|PMID:28492532 8976625 Fktn fukutin gene DOID:9006181 Congenital Muscular Dystrophy with Central Nervous System Involvement ISO RGD:1320791 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement PMID:10545611|PMID:11153909|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15103718|PMID:15833426|PMID:16222679|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21191726|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31742715|PMID:31983221|PMID:32721234|PMID:33200426|PMID:34008892|PMID:35131284|PMID:35587316|PMID:35843586|PMID:9536098|PMID:9690476 8976625 Fktn fukutin gene DOID:9008086 Developmental Disabilities ISO RGD:1320791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8976625 Fktn fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16531417 8976625 Fktn fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 RGD PMID:10852541|REF_RGD_ID:11576326 8976625 Fktn fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 RGD DNA:deletion, missense mutations, nonsense mutation:exon, intron:multiple PMID:20961758|REF_RGD_ID:11070464 8976625 Fktn fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation:exon:multiple PMID:19179078|REF_RGD_ID:11576323 8976625 Fktn fukutin gene DOID:9884 muscular dystrophy ISO RGD:1320791 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:c.340G>A, c.527T>C (human) PMID:19342235|REF_RGD_ID:11576325 8976660 Vopp1 VOPP1 WW domain binding protein gene DOID:12849 autistic disorder ISO RGD:1602094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8976660 Vopp1 VOPP1 WW domain binding protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8976660 Vopp1 VOPP1 WW domain binding protein gene DOID:630 genetic disease ISO RGD:1602094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976660 Vopp1 VOPP1 WW domain binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8976660 Vopp1 VOPP1 WW domain binding protein gene DOID:9119 acute myeloid leukemia ISO RGD:1602094 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 8976668 Enpp5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 gene DOID:0080600 COVID-19 ISO RGD:1349666 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8976668 Enpp5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 gene DOID:630 genetic disease ISO RGD:1349666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976668 Enpp5 ectonucleotide pyrophosphatase/phosphodiesterase family member 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8976692 Usp5 ubiquitin specific peptidase 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1318206 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8976692 Usp5 ubiquitin specific peptidase 5 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8976692 Usp5 ubiquitin specific peptidase 5 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8976692 Usp5 ubiquitin specific peptidase 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8976692 Usp5 ubiquitin specific peptidase 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8976692 Usp5 ubiquitin specific peptidase 5 gene DOID:630 genetic disease ISO RGD:1318206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976692 Usp5 ubiquitin specific peptidase 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1318206 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8976692 Usp5 ubiquitin specific peptidase 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1318206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8976729 Pid1 phosphotyrosine interaction domain containing 1 gene DOID:630 genetic disease ISO RGD:1605994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976744 Pak3 p21 (RAC1) activated kinase 3 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 8976744 Pak3 p21 (RAC1) activated kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8976744 Pak3 p21 (RAC1) activated kinase 3 gene DOID:0080470 developmental and epileptic encephalopathy 36 ISO RGD:731864 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:28492532 8976744 Pak3 p21 (RAC1) activated kinase 3 gene DOID:0112051 non-syndromic X-linked intellectual disability 30 ISO RGD:731864 D RGD:7240710 20180130 OMIM 8976744 Pak3 p21 (RAC1) activated kinase 3 gene DOID:0112051 non-syndromic X-linked intellectual disability 30 ISO RGD:731864 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47 PMID:10946356|PMID:12884430|PMID:17853471|PMID:18523455|PMID:25649377|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29246092|PMID:30542205|PMID:31843706|PMID:32050918|PMID:8826460|PMID:9332663|PMID:9731525 8976744 Pak3 p21 (RAC1) activated kinase 3 gene DOID:1059 intellectual disability ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18523455|PMID:25741868 8976744 Pak3 p21 (RAC1) activated kinase 3 gene DOID:10907 microcephaly ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 8976744 Pak3 p21 (RAC1) activated kinase 3 gene DOID:12849 autistic disorder ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8976744 Pak3 p21 (RAC1) activated kinase 3 gene DOID:5419 schizophrenia ISO RGD:731864 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8976744 Pak3 p21 (RAC1) activated kinase 3 gene DOID:630 genetic disease ISO RGD:731864 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24556213|PMID:25741868|PMID:26467025|PMID:28492532 8976744 Pak3 p21 (RAC1) activated kinase 3 gene DOID:8466 retinal degeneration ISO RGD:736155 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:16505058|REF_RGD_ID:7775028 8976770 Tbl1xr1 TBL1X/Y related 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1348910 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:16492805|PMID:21156281|PMID:21156282|PMID:25741868|PMID:26769062|PMID:28492532|PMID:28562391|PMID:32619424|PMID:32932517|PMID:35165208|PMID:9450851 8976770 Tbl1xr1 TBL1X/Y related 1 gene DOID:0070071 autosomal dominant intellectual developmental disorder 41 ISO RGD:1348910 D RGD:7240710 20190315 OMIM 8976770 Tbl1xr1 TBL1X/Y related 1 gene DOID:0070071 autosomal dominant intellectual developmental disorder 41 ISO RGD:1348910 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 41 | ClinVar Annotator: match by term: TBL1XR1-Related Disorder PMID:18414213|PMID:19760657|PMID:22495309|PMID:23160955|PMID:25102098|PMID:25741868|PMID:26740553|PMID:27133561|PMID:28492532|PMID:28574232|PMID:29777588|PMID:30365874|PMID:32901917|PMID:33527360 8976770 Tbl1xr1 TBL1X/Y related 1 gene DOID:0081362 Pierpont syndrome ISO RGD:1348910 D RGD:7240710 20190315 OMIM 8976770 Tbl1xr1 TBL1X/Y related 1 gene DOID:0081362 Pierpont syndrome ISO RGD:1348910 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome PMID:16199547|PMID:16492805|PMID:17576681|PMID:18414213|PMID:19760657|PMID:21156281|PMID:21156282|PMID:23160955|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26740553|PMID:26769062|PMID:27133561|PMID:27824329|PMID:28492532|PMID:28562391|PMID:28574232|PMID:28588275|PMID:29777588|PMID:30365874|PMID:30577886|PMID:31394400|PMID:31618753|PMID:32369273|PMID:32619424|PMID:32932517|PMID:33527360|PMID:35165208|PMID:9450851|PMID:9536098 8976770 Tbl1xr1 TBL1X/Y related 1 gene DOID:1059 intellectual disability ISO RGD:1348910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26740553|PMID:29777588 8976770 Tbl1xr1 TBL1X/Y related 1 gene DOID:1790 malignant mesothelioma ISO RGD:1348910 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 8976770 Tbl1xr1 TBL1X/Y related 1 gene DOID:630 genetic disease ISO RGD:1348910 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10322433|PMID:16893456|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26740553|PMID:26769062|PMID:28492532|PMID:29777588 8976770 Tbl1xr1 TBL1X/Y related 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348910 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 8976770 Tbl1xr1 TBL1X/Y related 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:0050904 salivary gland carcinoma disease_progression ISO RGD:736739 D RGD:9068941 20210507 RGD PMID:26498950|REF_RGD_ID:126907998 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736739 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:0060500 drug allergy ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17508966 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:0080322 polycystic kidney disease ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17537981|REF_RGD_ID:2300262 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:0080820 occupational asthma ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25721048 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:10591 pre-eclampsia ISO RGD:11184 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:11184 D RGD:9068941 20200609 RGD PMID:20157512|REF_RGD_ID:5688156 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:21701788|REF_RGD_ID:5688147 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:10652 Alzheimer's disease ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:10560656|REF_RGD_ID:5688249 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:10808 gastric ulcer ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344|PMID:19066340 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736739 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:macrophage, endothelial cell PMID:12663931|REF_RGD_ID:5688237 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:13413 hepatic encephalopathy ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:21575628|REF_RGD_ID:5688266 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:1591 renovascular hypertension ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:17766473|REF_RGD_ID:2300258 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:1612 breast cancer ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:9521170|REF_RGD_ID:2300213 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:1686 glaucoma ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:microglia PMID:11391707|REF_RGD_ID:5688244 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:11184 D RGD:9068941 20200609 RGD PMID:11740205|REF_RGD_ID:5688240 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:2316 brain ischemia ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage PMID:10867793|REF_RGD_ID:5688247 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:2394 ovarian cancer ISO RGD:736739 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovary PMID:12615701|REF_RGD_ID:2300211 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:736739 D RGD:9068941 20200609 RGD PMID:18416056|REF_RGD_ID:2300125 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:2893 cervix carcinoma disease_progression ISO RGD:736739 D RGD:9068941 20200609 RGD PMID:16803521|REF_RGD_ID:2300207 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:305 carcinoma ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189197 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:3068 glioblastoma ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage, PMID:10229132|REF_RGD_ID:5688250 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:3068 glioblastoma disease_progression ISO RGD:736739 D RGD:9068941 20200609 RGD PMID:11121536|REF_RGD_ID:5688245 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:3071 gliosarcoma ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage, PMID:10229132|REF_RGD_ID:5688250 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:3312 bipolar disorder ISO RGD:736739 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prefrontal cortex PMID:20038946|REF_RGD_ID:5688160 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:4450 renal cell carcinoma ISO RGD:3439 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12708469|REF_RGD_ID:2300212 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:4914 esophagus adenocarcinoma ISO RGD:3439 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:Esophagus PMID:22165968|REF_RGD_ID:5687745 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:5119 ovarian cyst ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:6000 congestive heart failure ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:630 genetic disease ISO RGD:736739 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15167967 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:783 end stage renal disease ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19420110 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:8577 ulcerative colitis ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:17429720|REF_RGD_ID:2300267 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:17184185|REF_RGD_ID:5688221 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage PMID:11063829|REF_RGD_ID:5688246 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12189197 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000641 Pain ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:17942724|REF_RGD_ID:2300252 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000641 Pain ISO RGD:3439 D RGD:9068941 20200609 RGD associated with Osteoarthritis, Knee;mRNA, protein:increased expression:spinal cord PMID:18637715|REF_RGD_ID:2300223 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17508966 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:intestine PMID:17699727|REF_RGD_ID:2290567 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000998 Brain Injuries ISO RGD:11184 D RGD:9068941 20200609 RGD PMID:19719848|REF_RGD_ID:5688162 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000998 Brain Injuries ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage PMID:11565600|REF_RGD_ID:5688242 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9000998 Brain Injuries ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:microglial cells, macrophage, endothelial cell PMID:12005397|REF_RGD_ID:5688239 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9001240 Peripheral Nerve Injuries disease_progression ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:14576556|REF_RGD_ID:5688234 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9001472 Nasal Polyps ISO RGD:736739 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; protein:increased expression:nasal mucosa: PMID:16517580|REF_RGD_ID:5143924 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9001642 Intestinal Polyps ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10753194|PMID:12189188 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17413918|REF_RGD_ID:5688169 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9002211 Hyperalgesia ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17989504 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9002457 Experimental Arthritis ISO RGD:3439 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:synovium PMID:22289897|REF_RGD_ID:5687744 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:11184 D RGD:9068941 20200609 RGD PMID:15867369|REF_RGD_ID:2300208 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:11184 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, cerebellum, spinal cord PMID:21667309|REF_RGD_ID:5688149 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression:microglia, macrophage, PMID:10229132|REF_RGD_ID:5688250 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system epithelium PMID:19364335|REF_RGD_ID:5147461 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:736739 D RGD:9068941 20200609 RGD PMID:16385084|REF_RGD_ID:5688223 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3439 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord PMID:12086957|REF_RGD_ID:727386 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3439 D RGD:9068941 20200609 RGD protein:increased expression: PMID:12916703|REF_RGD_ID:5688236 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9007278 Anaphylaxis ISO RGD:3439 D RGD:9068941 20200609 RGD PMID:18480553|REF_RGD_ID:2300247 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9007763 Flushing ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16322797 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9007980 Sleep Deprivation ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16343605 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:736739 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system epithelium PMID:19364335|REF_RGD_ID:5147461 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9008217 Hemorrhage ISO RGD:736739 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868 8976803 Ptgs1 prostaglandin-endoperoxide synthase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18488158 8976836 Tada3 transcriptional adaptor 3 gene DOID:2843 long QT syndrome ISO RGD:1314884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8976836 Tada3 transcriptional adaptor 3 gene DOID:630 genetic disease ISO RGD:1314884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976836 Tada3 transcriptional adaptor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8976836 Tada3 transcriptional adaptor 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1314884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 8976858 Adgrl4 adhesion G protein-coupled receptor L4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347532 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:22606234|REF_RGD_ID:13838662 8976858 Adgrl4 adhesion G protein-coupled receptor L4 gene DOID:3068 glioblastoma severity ISO RGD:1347532 D RGD:9068941 20200609 RGD PMID:23096411|REF_RGD_ID:13838665 8976858 Adgrl4 adhesion G protein-coupled receptor L4 gene DOID:3068 glioblastoma severity ISO RGD:621136 D RGD:9068941 20200609 RGD PMID:23096411|REF_RGD_ID:13838665 8976858 Adgrl4 adhesion G protein-coupled receptor L4 gene DOID:3068 glioblastoma treatment ISO RGD:732484 D RGD:9068941 20200609 RGD PMID:27416955|REF_RGD_ID:13838664 8976858 Adgrl4 adhesion G protein-coupled receptor L4 gene DOID:630 genetic disease ISO RGD:1347532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976858 Adgrl4 adhesion G protein-coupled receptor L4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732484 D RGD:9068941 20200609 RGD PMID:22606234|REF_RGD_ID:13838662 8976881 Arl10 ADP ribosylation factor like GTPase 10 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8976881 Arl10 ADP ribosylation factor like GTPase 10 gene DOID:14748 Sotos syndrome ISO RGD:1344087 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8976881 Arl10 ADP ribosylation factor like GTPase 10 gene DOID:630 genetic disease ISO RGD:1344087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976889 Cfap20 cilia and flagella associated protein 20 gene DOID:0050572 cone-rod dystrophy ISO RGD:1605686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:35246562 8976889 Cfap20 cilia and flagella associated protein 20 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8976889 Cfap20 cilia and flagella associated protein 20 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605686 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8976889 Cfap20 cilia and flagella associated protein 20 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8976889 Cfap20 cilia and flagella associated protein 20 gene DOID:630 genetic disease ISO RGD:1605686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976889 Cfap20 cilia and flagella associated protein 20 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1605686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8976899 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8976899 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8976899 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8976899 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:17187068|PMID:28492532 8976899 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8976899 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:5812 MHC class II deficiency ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8976899 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:630 genetic disease ISO RGD:1318635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976899 Atp8b2 ATPase phospholipid transporting 8B2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8976934 Ksr1 kinase suppressor of ras 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1317686 D RGD:9068941 20210604 RGD PMID:24909178|REF_RGD_ID:127229932 8976934 Ksr1 kinase suppressor of ras 1 gene DOID:3458 breast adenocarcinoma severity ISO RGD:1317686 D RGD:9068941 20210604 RGD PMID:24909178|REF_RGD_ID:127229932 8976934 Ksr1 kinase suppressor of ras 1 gene DOID:630 genetic disease ISO RGD:1317686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8976980 Lrriq4 leucine rich repeats and IQ motif containing 4 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:2293898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 8976980 Lrriq4 leucine rich repeats and IQ motif containing 4 gene DOID:1062 Fanconi syndrome ISO RGD:2293898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8976980 Lrriq4 leucine rich repeats and IQ motif containing 4 gene DOID:630 genetic disease ISO RGD:2293898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977005 Slc25a41 solute carrier family 25 member 41 gene DOID:0080490 mucolipidosis type IV ISO RGD:1604180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8977005 Slc25a41 solute carrier family 25 member 41 gene DOID:630 genetic disease ISO RGD:1604180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977030 Cpb1 carboxypeptidase B1 gene DOID:0050579 glycogen storage disease XV ISO RGD:737246 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8977030 Cpb1 carboxypeptidase B1 gene DOID:630 genetic disease ISO RGD:737246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977058 Rab33b RAB33B, member RAS oncogene family gene DOID:0060247 Smith-McCort dysplasia ISO RGD:1318074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia 8977058 Rab33b RAB33B, member RAS oncogene family gene DOID:0081271 Smith-McCort dysplasia 2 ISO RGD:1318074 D RGD:7240710 20180130 OMIM 8977058 Rab33b RAB33B, member RAS oncogene family gene DOID:0081271 Smith-McCort dysplasia 2 ISO RGD:1318074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia 2 PMID:16470731|PMID:22652534|PMID:23042644|PMID:25741868|PMID:28127940|PMID:28492532 8977058 Rab33b RAB33B, member RAS oncogene family gene DOID:2256 osteochondrodysplasia ISO RGD:1318074 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 8977058 Rab33b RAB33B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1318074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8977064 Znf16 zinc finger protein 16 gene DOID:630 genetic disease ISO RGD:1342906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977075 Ets2 ETS proto-oncogene 2, transcription factor gene DOID:3042 allergic contact dermatitis ISO RGD:1352353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8977075 Ets2 ETS proto-oncogene 2, transcription factor gene DOID:630 genetic disease ISO RGD:1352353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977075 Ets2 ETS proto-oncogene 2, transcription factor gene DOID:9002955 Nerve Degeneration ISO RGD:1352353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 8977075 Ets2 ETS proto-oncogene 2, transcription factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19764029 8977075 Ets2 ETS proto-oncogene 2, transcription factor gene DOID:9008939 Breast Neoplasms ISO RGD:1352353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8977089 Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1323044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8977089 Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1323044 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8977089 Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1323044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8977089 Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1323044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8977089 Kdelr3 KDEL endoplasmic reticulum protein retention receptor 3 gene DOID:630 genetic disease ISO RGD:1323044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0050477 Liddle syndrome ISO RGD:11272 D RGD:9068941 20200609 RGD PMID:10589691|REF_RGD_ID:737753 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0050477 Liddle syndrome ISO RGD:11272 D RGD:9068941 20220825 MouseDO OMIM:177200 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0050477 Liddle syndrome ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18398334|PMID:19344079 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0060041 autism spectrum disorder ISO RGD:734263 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:734263 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:10523338|PMID:11439319|PMID:15661075|PMID:16207733|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21504729|PMID:24033266|PMID:25333069|PMID:25741868|PMID:25900089|PMID:26038974|PMID:26467025|PMID:28492532|PMID:29580127|PMID:31328266|PMID:8589714|PMID:9118951|PMID:9576123|PMID:9674649 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:734263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0080526 bronchiectasis 1 ISO RGD:734263 D RGD:7240710 20180130 OMIM 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0080526 bronchiectasis 1 ISO RGD:734263 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:10362597|PMID:10523338|PMID:11439319|PMID:11478429|PMID:14645220|PMID:15661075|PMID:16207733|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21504729|PMID:23149595|PMID:24033266|PMID:24093724|PMID:24474657|PMID:25333069|PMID:25741868|PMID:25900089|PMID:26038974|PMID:26075967|PMID:26467025|PMID:27582106|PMID:27896928|PMID:27900368|PMID:28492532|PMID:28915228|PMID:29580127|PMID:31328266|PMID:34076240|PMID:34293339|PMID:7777572|PMID:7954808|PMID:8589714|PMID:9118951|PMID:9576123|PMID:9674649 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:0080760 Fanconi renotubular syndrome 4 ISO RGD:734263 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young PMID:25741868 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:10763 hypertension ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15174897|PMID:15198480|PMID:19344079 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:1184 nephrotic syndrome ISO RGD:3640 D RGD:9068941 20200609 RGD PMID:15075188|REF_RGD_ID:1624161 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:1485 cystic fibrosis ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16207733|PMID:16463024 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:2320 obstructive lung disease ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27982104 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:4479 pseudohypoaldosteronism ISO RGD:734263 D RGD:9068941 20200609 RGD PHA type I,OMIM:264350;DNA:point mutation:exon:G37S PMID:8589714|REF_RGD_ID:1624117 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:5419 schizophrenia ISO RGD:734263 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:630 genetic disease ISO RGD:734263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:850 lung disease ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16207733 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9000057 Pseudohypoaldosteronism Type IB2, Autosomal Recessive ISO RGD:734263 D RGD:7240710 20221214 OMIM 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9000057 Pseudohypoaldosteronism Type IB2, Autosomal Recessive ISO RGD:734263 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB2, autosomal recessive PMID:12107247|PMID:15853823|PMID:21504729|PMID:23426840|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31018202|PMID:8589714|PMID:9118951 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9001087 Opsoclonus-Myoclonus Syndrome ISO RGD:734263 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9005031 Liddle Syndrome 1 ISO RGD:734263 D RGD:7240710 20190320 OMIM 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9005031 Liddle Syndrome 1 ISO RGD:734263 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Liddle syndrome 1 PMID:10362597|PMID:10523338|PMID:11439319|PMID:11478429|PMID:14645220|PMID:15483078|PMID:15661075|PMID:16207733|PMID:18398334|PMID:18507830|PMID:19017867|PMID:19462466|PMID:21504729|PMID:21525970|PMID:22809657|PMID:24033266|PMID:24093724|PMID:24474657|PMID:25210634|PMID:25333069|PMID:25741868|PMID:25900089|PMID:26038974|PMID:26075967|PMID:26467025|PMID:27896928|PMID:27900368|PMID:28236585|PMID:28492532|PMID:28915228|PMID:29580127|PMID:31328266|PMID:7777572|PMID:7954808|PMID:8524790|PMID:8589714|PMID:8601645|PMID:9100575|PMID:9118951|PMID:9350583|PMID:9576123|PMID:9626162|PMID:9674649 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9008622 Adrenal Insufficiency ISO RGD:734263 D RGD:9068941 20200609 RGD Liddle syndrome, OMIM:177200;DNA:point mutation:exon:R564X PMID:7954808|REF_RGD_ID:1624136 8977098 Scnn1b sodium channel epithelial 1 subunit beta gene DOID:9675 pulmonary emphysema ISO RGD:734263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27982104 8977115 Cfap61 cilia and flagella associated protein 61 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1618265 D RGD:9068941 20230413 MouseDO 8977115 Cfap61 cilia and flagella associated protein 61 gene DOID:630 genetic disease ISO RGD:1323021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977115 Cfap61 cilia and flagella associated protein 61 gene DOID:9001613 Spermatogenic Failure 84 ISO RGD:1323021 D RGD:7240710 20230607 OMIM 8977115 Cfap61 cilia and flagella associated protein 61 gene DOID:9001613 Spermatogenic Failure 84 ISO RGD:1323021 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 84 PMID:34792097|PMID:35174165|PMID:35387802 8977147 Hsf2 heat shock transcription factor 2 gene DOID:0060224 atrial fibrillation ISO RGD:68578 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8977147 Hsf2 heat shock transcription factor 2 gene DOID:1826 epilepsy ISO RGD:68578 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8977147 Hsf2 heat shock transcription factor 2 gene DOID:630 genetic disease ISO RGD:68578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977180 Tedc2 tubulin epsilon and delta complex 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1604787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 8977180 Tedc2 tubulin epsilon and delta complex 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8977180 Tedc2 tubulin epsilon and delta complex 2 gene DOID:1826 epilepsy ISO RGD:1604787 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8977180 Tedc2 tubulin epsilon and delta complex 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8977180 Tedc2 tubulin epsilon and delta complex 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1604787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8977194 Mapk11 mitogen-activated protein kinase 11 gene DOID:0050700 cardiomyopathy ISO RGD:1319634 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10620750 8977194 Mapk11 mitogen-activated protein kinase 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8977194 Mapk11 mitogen-activated protein kinase 11 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1319634 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8977194 Mapk11 mitogen-activated protein kinase 11 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8977194 Mapk11 mitogen-activated protein kinase 11 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8977194 Mapk11 mitogen-activated protein kinase 11 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1319634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8977194 Mapk11 mitogen-activated protein kinase 11 gene DOID:1059 intellectual disability ISO RGD:1319634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8977194 Mapk11 mitogen-activated protein kinase 11 gene DOID:630 genetic disease ISO RGD:1319634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977235 Ryk receptor like tyrosine kinase gene DOID:0080395 orofacial cleft 1 ISO RGD:1346179 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Orofacial cleft 1 8977235 Ryk receptor like tyrosine kinase gene DOID:630 genetic disease ISO RGD:1346179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977235 Ryk receptor like tyrosine kinase gene DOID:674 cleft palate ISO RGD:1346179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10932185 8977235 Ryk receptor like tyrosine kinase gene DOID:9004657 Weight Gain ISO RGD:1346179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8977235 Ryk receptor like tyrosine kinase gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10932185 8977235 Ryk receptor like tyrosine kinase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1346179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8977257 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8977257 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8977257 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8977257 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:1059 intellectual disability ISO RGD:1319058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8977257 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:12712 nephronophthisis ISO RGD:1319058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8977257 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1319058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8977257 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:630 genetic disease ISO RGD:1319058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977257 Ncbp1 nuclear cap binding protein subunit 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1319058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8977287 Gtpbp3 GTP binding protein 3, mitochondrial gene DOID:0111500 combined oxidative phosphorylation deficiency 23 ISO RGD:1313350 D RGD:7240710 20180130 OMIM 8977287 Gtpbp3 GTP binding protein 3, mitochondrial gene DOID:0111500 combined oxidative phosphorylation deficiency 23 ISO RGD:1313350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 PMID:16199547|PMID:25434004|PMID:25741868|PMID:28492532|PMID:33619562 8977287 Gtpbp3 GTP binding protein 3, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1313350 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25434004|PMID:28492532 8977287 Gtpbp3 GTP binding protein 3, mitochondrial gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1313350 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25434004|PMID:25741868|PMID:30426380|PMID:34276756|PMID:35413567 8977287 Gtpbp3 GTP binding protein 3, mitochondrial gene DOID:630 genetic disease ISO RGD:1313350 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25434004|PMID:25741868|PMID:28492532|PMID:30426380 8977287 Gtpbp3 GTP binding protein 3, mitochondrial gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1313350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PIGG-related neurodevelopmental disorder PMID:25741868|PMID:28492532 8977287 Gtpbp3 GTP binding protein 3, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1313350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8977296 Pgghg protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:0110344 osteogenesis imperfecta type 5 ISO RGD:1604792 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:28725987|PMID:31099171|PMID:31159867|PMID:32383316 8977296 Pgghg protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:0111969 immunodeficiency 39 ISO RGD:1604792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8977296 Pgghg protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:12347 osteogenesis imperfecta ISO RGD:1604792 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:28725987|PMID:31099171|PMID:31159867|PMID:32383316 8977296 Pgghg protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:630 genetic disease ISO RGD:1604792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977296 Pgghg protein-glucosylgalactosylhydroxylysine glucosidase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1604792 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:22863190|PMID:22863195|PMID:23977282|PMID:25251575|PMID:25741868|PMID:28492532|PMID:28725987|PMID:31099171|PMID:31159867|PMID:32383316 8977314 Acp7 acid phosphatase 7, tartrate resistant (putative) gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1604436 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8977314 Acp7 acid phosphatase 7, tartrate resistant (putative) gene DOID:630 genetic disease ISO RGD:1604436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977314 Acp7 acid phosphatase 7, tartrate resistant (putative) gene DOID:9352 type 2 diabetes mellitus ISO RGD:1604436 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8977334 Stac SH3 and cysteine rich domain gene DOID:3042 allergic contact dermatitis ISO RGD:1313960 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8977334 Stac SH3 and cysteine rich domain gene DOID:630 genetic disease ISO RGD:1313960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977355 Fbxo42 F-box protein 42 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312431 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8977355 Fbxo42 F-box protein 42 gene DOID:630 genetic disease ISO RGD:1312431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977381 Zc3h4 zinc finger CCCH-type containing 4 gene DOID:630 genetic disease ISO RGD:1316321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977381 Zc3h4 zinc finger CCCH-type containing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8977401 Slc46a1 solute carrier family 46 member 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1606750 D RGD:7240710 20180130 OMIM 8977401 Slc46a1 solute carrier family 46 member 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1606750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital defect of folate absorption PMID:11804211|PMID:11807405|PMID:17129779|PMID:17446347|PMID:18559978|PMID:19176287|PMID:19740703|PMID:20301716|PMID:20686069|PMID:20795774|PMID:21333572|PMID:21489556|PMID:22345511|PMID:22843796|PMID:25741868|PMID:27664775|PMID:28492532|PMID:3987728 8977401 Slc46a1 solute carrier family 46 member 1 gene DOID:1059 intellectual disability ISO RGD:1606750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8977401 Slc46a1 solute carrier family 46 member 1 gene DOID:12450 pancytopenia ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21346251 8977401 Slc46a1 solute carrier family 46 member 1 gene DOID:2355 anemia ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21346251 8977401 Slc46a1 solute carrier family 46 member 1 gene DOID:630 genetic disease ISO RGD:1606750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11807405|PMID:17129779|PMID:19740703|PMID:20301716|PMID:21489556|PMID:25741868|PMID:27664775|PMID:28492532 8977401 Slc46a1 solute carrier family 46 member 1 gene DOID:784 chronic kidney disease ISO RGD:1309472 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, heart, jejunum (rat) PMID:21149507|REF_RGD_ID:7327184 8977401 Slc46a1 solute carrier family 46 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8977401 Slc46a1 solute carrier family 46 member 1 gene DOID:9002984 Malabsorption Syndromes ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17129779|PMID:17446347 8977401 Slc46a1 solute carrier family 46 member 1 gene DOID:9279 hyperhomocysteinemia ISO RGD:1606750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19204075 8977427 Myo19 myosin XIX gene DOID:0060041 autism spectrum disorder ISO RGD:1352895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8977427 Myo19 myosin XIX gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1352895 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 8977427 Myo19 myosin XIX gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:1352895 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:24367057|PMID:25741868|PMID:27626616|PMID:28492532|PMID:30679815|PMID:30813920|PMID:32198969|PMID:32466763 8977427 Myo19 myosin XIX gene DOID:12849 autistic disorder ISO RGD:1352895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8977427 Myo19 myosin XIX gene DOID:5419 schizophrenia ISO RGD:1352895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8977427 Myo19 myosin XIX gene DOID:630 genetic disease ISO RGD:1352895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30679815 8977427 Myo19 myosin XIX gene DOID:674 cleft palate ISO RGD:1352895 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868|PMID:28492532 8977427 Myo19 myosin XIX gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8977427 Myo19 myosin XIX gene DOID:9007061 Glycosylphosphatidylinositol Biosynthesis Defect 1 ISO RGD:1352895 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:25741868 8977427 Myo19 myosin XIX gene DOID:9008086 Developmental Disabilities ISO RGD:1352895 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8977484 Vdac3 voltage dependent anion channel 3 gene DOID:0090039 torsion dystonia 6 ISO RGD:733844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 8977484 Vdac3 voltage dependent anion channel 3 gene DOID:0111959 immunodeficiency 15B ISO RGD:733844 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 8977484 Vdac3 voltage dependent anion channel 3 gene DOID:630 genetic disease ISO RGD:733844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977484 Vdac3 voltage dependent anion channel 3 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 8977516 Mid1ip1 MID1 interacting protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8977516 Mid1ip1 MID1 interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8977516 Mid1ip1 MID1 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1344749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977516 Mid1ip1 MID1 interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344749 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8977516 Mid1ip1 MID1 interacting protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8977516 Mid1ip1 MID1 interacting protein 1 gene DOID:9006836 Contracture ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 8977516 Mid1ip1 MID1 interacting protein 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1344749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8977522 Mbnl1 muscleblind like splicing regulator 1 gene DOID:450 myotonic disease ISO RGD:1552938 D RGD:9068941 20220825 MouseDO 8977522 Mbnl1 muscleblind like splicing regulator 1 gene DOID:5419 schizophrenia ISO RGD:1606580 D RGD:9068941 20200609 RGD mRNA:increased expression:Brodmann (1909) area 46 PMID:17464717|REF_RGD_ID:10041058 8977522 Mbnl1 muscleblind like splicing regulator 1 gene DOID:630 genetic disease ISO RGD:1606580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977522 Mbnl1 muscleblind like splicing regulator 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1606580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8977522 Mbnl1 muscleblind like splicing regulator 1 gene DOID:9008993 Myotonia ISO RGD:1606580 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24039817 8977587 Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1342805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8977587 Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1342805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8977587 Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1342805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8977587 Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8977587 Baiap2l2 BAR/IMD domain containing adaptor protein 2 like 2 gene DOID:630 genetic disease ISO RGD:1342805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977603 Znf385c zinc finger protein 385C gene DOID:630 genetic disease ISO RGD:1604507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977620 PAK1 p21 (RAC1) activated kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17621631|REF_RGD_ID:2299159 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:1059 intellectual disability ISO RGD:1346880 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:altered localization PMID:18347024|REF_RGD_ID:2299169 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:1612 breast cancer ISO RGD:1346880 D RGD:9068941 20200609 RGD PMID:16705121|REF_RGD_ID:2299167 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:1612 breast cancer ISO RGD:1346880 D RGD:9068941 20200609 RGD DNA:amplification PMID:17486065|REF_RGD_ID:2299165 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:1612 breast cancer ISO RGD:1346880 D RGD:9068941 20230225 RGD mRNA:increased expression:breast PMID:28055013|REF_RGD_ID:156430322 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:2154 nephroblastoma ISO RGD:1346880 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12165855|REF_RGD_ID:2299168 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:2316 brain ischemia ISO RGD:3250 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17997827|REF_RGD_ID:2299171 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:2671 transitional cell carcinoma severity ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18167251|REF_RGD_ID:2299157 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:4001 ovarian carcinoma severity ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17533742|REF_RGD_ID:2299164 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1346880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17621631 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:5419 schizophrenia ISO RGD:1346880 D RGD:9068941 20200609 RGD protein:decreased threonine phosphorylation:anterior cingulate cortex, dorsolateral prefrontal cortex PMID:22458949|REF_RGD_ID:11533950 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:576 proteinuria ISO RGD:1346880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071462 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:630 genetic disease ISO RGD:1346880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10975528|PMID:30290153 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9002170 Experimental Neoplasms ISO RGD:1346880 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9002514 Neointima ISO RGD:3250 D RGD:9068941 20200609 RGD PMID:19359598|PMID:22922962|REF_RGD_ID:10041068|REF_RGD_ID:11533945 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346880 D RGD:9068941 20200609 RGD DNA:amplification PMID:16753589|REF_RGD_ID:2299166 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:736234 D RGD:9068941 20200609 RGD PMID:22082674|REF_RGD_ID:11533929 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:736234 D RGD:9068941 20200609 RGD PMID:22082674|REF_RGD_ID:11533929 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346880 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1346880 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346880 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35066776 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9004610 Acute Lung Injury ISO RGD:3250 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:23546543|REF_RGD_ID:11533951 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9004763 Trauma and Stressor Related Disorders disease_progression ISO RGD:3250 D RGD:9068941 20220428 RGD PMID:22078298|REF_RGD_ID:152023731 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9006418 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA ISO RGD:1346880 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia PMID:25741868 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9007096 Stroke ISO RGD:1346880 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17997827|REF_RGD_ID:2299171 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1346880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179234 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9009239 Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay ISO RGD:1346880 D RGD:7240710 20190315 OMIM 8977620 Pak1 p21 (RAC1) activated kinase 1 gene DOID:9009239 Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay ISO RGD:1346880 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders PMID:10975528|PMID:25741868|PMID:28492532|PMID:30290153|PMID:31504246|PMID:33098801 8977645 Fscb fibrous sheath CABYR binding protein gene DOID:13636 Fanconi anemia ISO RGD:1343697 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 8977645 Fscb fibrous sheath CABYR binding protein gene DOID:630 genetic disease ISO RGD:1343697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977645 Fscb fibrous sheath CABYR binding protein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343697 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8977656 Epha10 EPH receptor A10 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1347579 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8977656 Epha10 EPH receptor A10 gene DOID:630 genetic disease ISO RGD:1347579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977656 Epha10 EPH receptor A10 gene DOID:9002506 Autosomal Dominant Nonsyndromic Deafness 88 ISO RGD:1347579 D RGD:7240710 20230505 OMIM 8977688 Kynu kynureninase gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 8977688 Kynu kynureninase gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder PMID:21981781|PMID:23632792 8977688 Kynu kynureninase gene DOID:0081122 Catel Manzke syndrome ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME PMID:25741868|PMID:31923704|PMID:33942433 8977688 Kynu kynureninase gene DOID:0112257 hydroxykynureninuria ISO RGD:734173 D RGD:7240710 20180130 OMIM 8977688 Kynu kynureninase gene DOID:0112257 hydroxykynureninuria ISO RGD:734173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydroxykynureninuria PMID:17334708|PMID:25741868 8977688 Kynu kynureninase gene DOID:10763 hypertension ISO RGD:71061 D RGD:9068941 20200609 RGD PMID:11924719|REF_RGD_ID:631322 8977688 Kynu kynureninase gene DOID:1289 neurodegenerative disease ISO RGD:734173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 8977688 Kynu kynureninase gene DOID:630 genetic disease ISO RGD:734173 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8977688 Kynu kynureninase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8977688 Kynu kynureninase gene DOID:9003412 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 ISO RGD:734173 D RGD:7240710 20190315 OMIM 8977688 Kynu kynureninase gene DOID:9003412 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 ISO RGD:734173 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 2 PMID:11204305|PMID:17334708|PMID:22012986|PMID:25741868|PMID:28492532|PMID:28792876|PMID:31923704|PMID:33942433|PMID:34200361 8977688 Kynu kynureninase gene DOID:9005372 Inflammation ISO RGD:734173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16365156 8977712 Smim29 small integral membrane protein 29 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1605841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8977734 Cdh9 cadherin 9 gene DOID:12849 autistic disorder ISO RGD:1354185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19404256 8977734 Cdh9 cadherin 9 gene DOID:630 genetic disease ISO RGD:1354185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977734 Cdh9 cadherin 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8977750 Tbkbp1 TBK1 binding protein 1 gene DOID:630 genetic disease ISO RGD:731934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977750 Tbkbp1 TBK1 binding protein 1 gene DOID:7147 ankylosing spondylitis ISO RGD:731934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 8977769 Sec24a SEC24 homolog A, COPII coat complex component gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319800 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8977769 Sec24a SEC24 homolog A, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1319800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977769 Sec24a SEC24 homolog A, COPII coat complex component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8977769 Sec24a SEC24 homolog A, COPII coat complex component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 8977769 Sec24a SEC24 homolog A, COPII coat complex component gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319800 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8977796 Dot1l DOT1 like histone lysine methyltransferase gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1315377 D RGD:9068941 20220825 MouseDO OMIM:115200 8977796 Dot1l DOT1 like histone lysine methyltransferase gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1315376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8977796 Dot1l DOT1 like histone lysine methyltransferase gene DOID:3910 lung adenocarcinoma ISO RGD:1315376 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 8977796 Dot1l DOT1 like histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1315376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977796 Dot1l DOT1 like histone lysine methyltransferase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315376 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32814769 8977796 Dot1l DOT1 like histone lysine methyltransferase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8977796 Dot1l DOT1 like histone lysine methyltransferase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315376 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:31888761 8977796 Dot1l DOT1 like histone lysine methyltransferase gene DOID:9008582 Developmental Disease ISO RGD:1315376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8977796 Dot1l DOT1 like histone lysine methyltransferase gene DOID:9953 acute biphenotypic leukemia treatment ISO RGD:1315376 D RGD:9068941 20200609 RGD PMID:23801631|REF_RGD_ID:9588291 8977835 Odf1 outer dense fiber of sperm tails 1 gene DOID:0111590 Cohen syndrome ISO RGD:733828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8977835 Odf1 outer dense fiber of sperm tails 1 gene DOID:630 genetic disease ISO RGD:733828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977845 Hk2 hexokinase 2 gene DOID:10763 hypertension treatment ISO RGD:2797 D RGD:9068941 20230720 RGD PMID:31572179|REF_RGD_ID:329956417 8977845 Hk2 hexokinase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:733090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8977845 Hk2 hexokinase 2 gene DOID:630 genetic disease ISO RGD:733090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977845 Hk2 hexokinase 2 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2797 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cardiac ventricle PMID:24525799|REF_RGD_ID:11353961 8977845 Hk2 hexokinase 2 gene DOID:9006205 Animal Disease Models ISO RGD:733090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8977845 Hk2 hexokinase 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:733090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8977845 Hk2 hexokinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733090 D RGD:9068941 20200609 RGD PMID:11319725|REF_RGD_ID:2313227 8977845 Hk2 hexokinase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735576 D RGD:9068941 20200609 RGD mRNA:decreased expression:epididymal fat pad, quadriceps PMID:7813813|REF_RGD_ID:2313229 8977845 Hk2 hexokinase 2 gene DOID:9970 obesity ISO RGD:2797 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrocnemius PMID:16555472|REF_RGD_ID:1624365 8977845 Hk2 hexokinase 2 gene DOID:9970 obesity ISO RGD:733090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8977845 Hk2 hexokinase 2 gene DOID:9970 obesity ISO RGD:733090 D RGD:9068941 20200609 RGD PMID:11319725|REF_RGD_ID:2313227 8977867 Psd3 pleckstrin and Sec7 domain containing 3 gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:1603689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 8977867 Psd3 pleckstrin and Sec7 domain containing 3 gene DOID:3070 high grade glioma ISO RGD:1603689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 8977867 Psd3 pleckstrin and Sec7 domain containing 3 gene DOID:630 genetic disease ISO RGD:1603689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977867 Psd3 pleckstrin and Sec7 domain containing 3 gene DOID:670 amphetamine abuse ISO RGD:1603689 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8977867 Psd3 pleckstrin and Sec7 domain containing 3 gene DOID:9006836 Contracture ISO RGD:1603689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 8977902 Nt5e 5'-nucleotidase ecto gene DOID:0111582 hereditary arterial and articular multiple calcification syndrome ISO RGD:734028 D RGD:7240710 20180130 OMIM 8977902 Nt5e 5'-nucleotidase ecto gene DOID:0111582 hereditary arterial and articular multiple calcification syndrome ISO RGD:734028 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Calcification of joints and arteries | ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome PMID:21288095|PMID:24887587|PMID:25741868|PMID:28492532 8977902 Nt5e 5'-nucleotidase ecto gene DOID:1824 status epilepticus ISO RGD:61956 D RGD:9068941 20200609 RGD protein:increased activity:cerebral cortex, synaptosome (rat) PMID:16274951|REF_RGD_ID:5134344 8977902 Nt5e 5'-nucleotidase ecto gene DOID:630 genetic disease ISO RGD:734028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977902 Nt5e 5'-nucleotidase ecto gene DOID:769 neuroblastoma ISO RGD:734028 D RGD:9068941 20221006 CTD CTD Direct Evidence: therapeutic PMID:34773529 8977902 Nt5e 5'-nucleotidase ecto gene DOID:9000217 Stomach Neoplasms ISO RGD:734028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8977902 Nt5e 5'-nucleotidase ecto gene DOID:9000918 Disease Progression ISO RGD:734028 D RGD:9068941 20221006 CTD CTD Direct Evidence: therapeutic PMID:34773529 8977902 Nt5e 5'-nucleotidase ecto gene DOID:9000998 Brain Injuries ISO RGD:61956 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex (rat) PMID:21337375|REF_RGD_ID:5134348 8977902 Nt5e 5'-nucleotidase ecto gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18263696 8977902 Nt5e 5'-nucleotidase ecto gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61956 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, synaptosome (rat) PMID:19723569|REF_RGD_ID:5134343 8977902 Nt5e 5'-nucleotidase ecto gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734028 D RGD:9068941 20221006 CTD CTD Direct Evidence: therapeutic PMID:34773529 8977943 Paf1 PAF1 homolog, Paf1/RNA polymerase II complex component gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1607027 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8977943 Paf1 PAF1 homolog, Paf1/RNA polymerase II complex component gene DOID:630 genetic disease ISO RGD:1607027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977943 Paf1 PAF1 homolog, Paf1/RNA polymerase II complex component gene DOID:9352 type 2 diabetes mellitus ISO RGD:1607027 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8977964 Elapor1 endosome-lysosome associated apoptosis and autophagy regulator 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8977964 Elapor1 endosome-lysosome associated apoptosis and autophagy regulator 1 gene DOID:12849 autistic disorder ISO RGD:1606254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8977964 Elapor1 endosome-lysosome associated apoptosis and autophagy regulator 1 gene DOID:630 genetic disease ISO RGD:1606254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8977997 Insc INSC spindle orientation adaptor protein gene DOID:1059 intellectual disability ISO RGD:1606091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8977997 Insc INSC spindle orientation adaptor protein gene DOID:630 genetic disease ISO RGD:1606091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978026 Nccrp1 NCCRP1, F-box associated domain containing gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1602046 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8978026 Nccrp1 NCCRP1, F-box associated domain containing gene DOID:630 genetic disease ISO RGD:1602046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978026 Nccrp1 NCCRP1, F-box associated domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1602046 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8978036 Arfip1 ADP ribosylation factor interacting protein 1 gene DOID:630 genetic disease ISO RGD:732747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978065 Dmd dystrophin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532 8978065 Dmd dystrophin gene DOID:0050451 Brugada syndrome ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868|PMID:28492532 8978065 Dmd dystrophin gene DOID:0050700 cardiomyopathy ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10320864|PMID:10533061|PMID:11241855|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:14659407|PMID:14695533|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16199547|PMID:16566881|PMID:16770791|PMID:16834926|PMID:17041906|PMID:17145200|PMID:17259292|PMID:17576681|PMID:17726484|PMID:17826093|PMID:18583217|PMID:18663755|PMID:19158079|PMID:19409785|PMID:19760747|PMID:19783145|PMID:19937601|PMID:19959795|PMID:20098710|PMID:20696926|PMID:21515508|PMID:21969337|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23453023|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25231023|PMID:25333069|PMID:25474345|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26392559|PMID:26467025|PMID:26743743|PMID:27263301|PMID:27593222|PMID:27896284|PMID:27898983|PMID:28181471|PMID:28181689|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28798025|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29792937|PMID:29847600|PMID:29961767|PMID:29970176|PMID:30086531|PMID:30342905|PMID:30833962|PMID:31081998|PMID:31216405|PMID:31333075|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31708335|PMID:32419263|PMID:32746448|PMID:33101180|PMID:33644936|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7668256|PMID:7849724|PMID:7881286|PMID:7981690|PMID:8281150|PMID:8301652|PMID:8789442|PMID:9067763|PMID:9170407|PMID:9536098 8978065 Dmd dystrophin gene DOID:0050700 cardiomyopathy ISO RGD:736976 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10320864|PMID:10533061|PMID:11241855|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:14659407|PMID:14695533|PMID:15351422|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16199547|PMID:16566881|PMID:16770791|PMID:16834926|PMID:17041906|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17435279|PMID:17576681|PMID:17726484|PMID:17826093|PMID:17854090|PMID:17880784|PMID:18583217|PMID:18663755|PMID:19158079|PMID:19409785|PMID:19449031|PMID:19760747|PMID:19783145|PMID:19937601|PMID:19959795|PMID:20098710|PMID:20485447|PMID:20696926|PMID:21396098|PMID:21515508|PMID:21520333|PMID:21969337|PMID:22223181|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23453023|PMID:23536893|PMID:23588064|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25227141|PMID:25231023|PMID:25333069|PMID:25474345|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26392559|PMID:26467025|PMID:26594346|PMID:26743743|PMID:27263301|PMID:27593222|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28181471|PMID:28181689|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28798025|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29792937|PMID:29847600|PMID:29892087|PMID:29961767|PMID:29970176|PMID:30086531|PMID:30342905|PMID:30833962|PMID:31081998|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31708335|PMID:32194622|PMID:32358784|PMID:32419263|PMID:32746448|PMID:33101180|PMID:33644936|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7668256|PMID:7849724|PMID:7881286|PMID:7981690|PMID:8281150|PMID:8301652|PMID:8789442|PMID:9067763|PMID:9170407|PMID:9536098 8978065 Dmd dystrophin gene DOID:0060260 ptosis ISO RGD:736976 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ptosis PMID:16770791|PMID:17041906|PMID:23536893|PMID:25007885|PMID:25741868|PMID:26046366|PMID:28492532 8978065 Dmd dystrophin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8978065 Dmd dystrophin gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532 8978065 Dmd dystrophin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:28569743|PMID:31333075|PMID:31568572 8978065 Dmd dystrophin gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:736976 D RGD:7240710 20220831 OMIM 8978065 Dmd dystrophin gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:736976 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:10094565|PMID:10909857|PMID:11257468|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:12632325|PMID:14695533|PMID:15351422|PMID:1549596|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16077730|PMID:16199547|PMID:1644931|PMID:16770791|PMID:17041906|PMID:17253928|PMID:17259292|PMID:17576681|PMID:17826093|PMID:17854090|PMID:18583217|PMID:18652600|PMID:18653336|PMID:18663755|PMID:19074751|PMID:19158079|PMID:19206170|PMID:19367636|PMID:19409785|PMID:19602481|PMID:19760747|PMID:19783145|PMID:19793655|PMID:19937601|PMID:19959795|PMID:20485447|PMID:20696926|PMID:21104870|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21851881|PMID:21969337|PMID:22223181|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23299919|PMID:23352160|PMID:23453023|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25231023|PMID:25333069|PMID:25447171|PMID:25474345|PMID:25525159|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26365249|PMID:26467025|PMID:26735901|PMID:26743743|PMID:2691353|PMID:26968818|PMID:26990548|PMID:27122458|PMID:27135274|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27896284|PMID:27930565|PMID:28116794|PMID:28181471|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29874176|PMID:29892087|PMID:29961767|PMID:30086531|PMID:30275481|PMID:30342905|PMID:30415094|PMID:30564623|PMID:30833962|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31648988|PMID:31708335|PMID:31983221|PMID:32013268|PMID:32194622|PMID:32419263|PMID:32559196|PMID:33144682|PMID:33644936|PMID:34106991|PMID:35135626|PMID:36409343|PMID:7581396|PMID:7599638|PMID:7825571|PMID:7881286|PMID:8123157|PMID:8281150|PMID:8301652|PMID:8361506|PMID:8589698|PMID:8789442|PMID:8840119|PMID:9170407|PMID:9536098|PMID:9544849|PMID:9683584 8978065 Dmd dystrophin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25741868|PMID:28492532|PMID:28569743|PMID:31333075|PMID:31568572 8978065 Dmd dystrophin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532|PMID:34103343 8978065 Dmd dystrophin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:25741868|PMID:28492532|PMID:34103343 8978065 Dmd dystrophin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:11710958|PMID:19760747|PMID:24033266|PMID:25007885|PMID:25741868|PMID:26467025|PMID:26743743|PMID:28492532|PMID:7599634|PMID:7849724 8978065 Dmd dystrophin gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:736976 D RGD:7240710 20180130 OMIM 8978065 Dmd dystrophin gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:11257468|PMID:11524473|PMID:11710958|PMID:12354438|PMID:12359139|PMID:12467752|PMID:12632325|PMID:14695533|PMID:15643612|PMID:15655674|PMID:16049303|PMID:16199547|PMID:16770791|PMID:17041906|PMID:17253928|PMID:17259292|PMID:17576681|PMID:17826093|PMID:17854090|PMID:18583217|PMID:18652600|PMID:18653336|PMID:18663755|PMID:19074751|PMID:19158079|PMID:19206170|PMID:19367636|PMID:19409785|PMID:19760747|PMID:19783145|PMID:19793655|PMID:19937601|PMID:19959795|PMID:20696926|PMID:21104870|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21969337|PMID:22223181|PMID:22678781|PMID:23251671|PMID:23299917|PMID:23352160|PMID:23536893|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25231023|PMID:25333069|PMID:25447171|PMID:25474345|PMID:25636106|PMID:25637381|PMID:25741868|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26365249|PMID:26467025|PMID:26735901|PMID:26743743|PMID:2691353|PMID:26990548|PMID:27135274|PMID:27593222|PMID:27708273|PMID:27896284|PMID:27930565|PMID:28181471|PMID:28318817|PMID:28492532|PMID:28701297|PMID:28859693|PMID:29511324|PMID:29517769|PMID:29604111|PMID:29874176|PMID:29892087|PMID:29961767|PMID:30086531|PMID:30275481|PMID:30342905|PMID:30415094|PMID:30564623|PMID:30833962|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31568572|PMID:31648988|PMID:31708335|PMID:31983221|PMID:32013268|PMID:32194622|PMID:32419263|PMID:33644936|PMID:34106991|PMID:35135626|PMID:36409343|PMID:7599638|PMID:7881286|PMID:8789442|PMID:8840119|PMID:9170407|PMID:9536098|PMID:9544849 8978065 Dmd dystrophin gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:736976 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868 8978065 Dmd dystrophin gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:736976 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:16770791|PMID:17576681|PMID:19959795|PMID:25741868|PMID:28492532|PMID:28495050|PMID:9536098 8978065 Dmd dystrophin gene DOID:1059 intellectual disability ISO RGD:736976 D RGD:9068941 20200609 RGD DNA:deletion:cds:c.9711_9713del (p.L3238del)(human) PMID:23900271|REF_RGD_ID:12879885 8978065 Dmd dystrophin gene DOID:11612 polycystic ovary syndrome ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8978065 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:7240710 20180130 OMIM 8978065 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14641995|PMID:14659407|PMID:14695533|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16917894|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17726484|PMID:17826093|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21550932|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22369279|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:2316519|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24217213|PMID:24265581|PMID:24292997|PMID:24300647|PMID:24349052|PMID:24504883|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25108525|PMID:25163546|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346|PMID:26676145|PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27263301|PMID:27350676|PMID:27363342|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318 8978065 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:28318817|PMID:28332368|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28798025|PMID:28859693|PMID:28878402|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29511324|PMID:29517769|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30342905|PMID:30415094|PMID:30564623|PMID:30833962|PMID:30944907|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31568572|PMID:31648988|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31708335|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33238405|PMID:33420945|PMID:33644936|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34297739|PMID:34404389|PMID:34629887|PMID:34906502|PMID:35165973|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8628480|PMID:8789442|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9800909 8978065 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10465346|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10722962|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11241855|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14514278|PMID:14641995|PMID:14652441|PMID:14659407|PMID:14695533|PMID:14961551|PMID:14962982|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15845029|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16883524|PMID:16917894|PMID:16936400|PMID:16950195|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17380674|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17726484|PMID:17826093|PMID:1785409|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18059005|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18393226|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:1889805|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19065519|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19449433|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20457930|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:21273767|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21402533|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21550932|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22102647|PMID:22144684|PMID:22161109|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22369279|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:23092449|PMID:2316519|PMID:23224783|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:23829870|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24217213|PMID:24236769|PMID:24265581|PMID:24274981|PMID:24292997|PMID:24300647|PMID:24302611|PMID:24349052|PMID:24504883|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25108525|PMID:25163546|PMID:25193336|PMID:25214167|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25340340|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25761239|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346 8978065 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:26676145|PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27234031|PMID:27263301|PMID:27290639|PMID:27350676|PMID:27363342|PMID:27425820|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318|PMID:28318817|PMID:28332368|PMID:28407826|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28526893|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28777860|PMID:28798025|PMID:28859693|PMID:28878402|PMID:29016797|PMID:29188604|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29365344|PMID:29390271|PMID:29511324|PMID:29517769|PMID:29578119|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29901616|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30293248|PMID:30342905|PMID:30415094|PMID:30467404|PMID:30564623|PMID:30816495|PMID:30827497|PMID:30833962|PMID:30907348|PMID:30938079|PMID:30944907|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31333075|PMID:31379145|PMID:31397097|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31514951|PMID:31568572|PMID:31648988|PMID:31661024|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31706698|PMID:31708335|PMID:31719299|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32055135|PMID:32169422|PMID:32176650|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:32969603|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33144682|PMID:33238405|PMID:33420945|PMID:33644936|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34103343|PMID:34106991|PMID:34297739|PMID:34404389|PMID:34629887|PMID:34906502|PMID:35135626|PMID:35165973|PMID:36409343|PMID:7041906|PMID:7496177|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7897627|PMID:7951251|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8004097|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8452597|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8589698|PMID:8628480|PMID:8784808|PMID:8789442|PMID:8840114|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9447607|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9760747|PMID:9800909|PMID:9805122|PMID:9937601 8978065 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10465346|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10722962|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11241855|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14514278|PMID:14641995|PMID:14652441|PMID:14659407|PMID:14695533|PMID:14961551|PMID:14962982|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15845029|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16883524|PMID:16917894|PMID:16936400|PMID:16950195|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17380674|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17680544|PMID:17726484|PMID:17826093|PMID:1785409|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18059005|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18393226|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:1889805|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19065519|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19449433|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20457930|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:21273767|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21402533|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22102647|PMID:22144684|PMID:22161109|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:23092449|PMID:2316519|PMID:23224783|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:23829870|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24123366|PMID:24217213|PMID:24236769|PMID:24265581|PMID:24274981|PMID:24292997|PMID:24300647|PMID:24302611|PMID:24349052|PMID:24504883|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25163546|PMID:25193336|PMID:25214167|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25340340|PMID:25348330|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25761239|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346 8978065 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:26676145|PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27234031|PMID:27263301|PMID:27290639|PMID:27350676|PMID:27363342|PMID:27425820|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318|PMID:28318817|PMID:28332368|PMID:28407826|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28526893|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28777860|PMID:28798025|PMID:28859693|PMID:28878337|PMID:28878402|PMID:29016797|PMID:29188604|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29365344|PMID:29386531|PMID:29390271|PMID:29511324|PMID:29517769|PMID:29578119|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29892087|PMID:29901616|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30293248|PMID:30342905|PMID:30406066|PMID:30415094|PMID:30467404|PMID:30564623|PMID:30816495|PMID:30827497|PMID:30833962|PMID:30907348|PMID:30938079|PMID:30944907|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31302907|PMID:31333075|PMID:31379145|PMID:31397097|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31475473|PMID:31514951|PMID:31568572|PMID:31648988|PMID:31661024|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31706698|PMID:31708335|PMID:31719299|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32055135|PMID:32169422|PMID:32176650|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:32969603|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33144682|PMID:33238405|PMID:33250842|PMID:33420945|PMID:33644936|PMID:33773883|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34103343|PMID:34106991|PMID:34268379|PMID:34297739|PMID:34404389|PMID:34629887|PMID:34906502|PMID:34950096|PMID:35135626|PMID:35165973|PMID:36315559|PMID:36409343|PMID:7041906|PMID:7496177|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7897627|PMID:7951251|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8004097|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8452597|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8589698|PMID:8628480|PMID:8784808|PMID:8789442|PMID:8817332|PMID:8840114|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9447607|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9760747|PMID:9800909|PMID:9805122|PMID:9937601 8978065 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:10094565|PMID:10196701|PMID:10320864|PMID:10392746|PMID:10464635|PMID:10465346|PMID:10480348|PMID:10533061|PMID:10541573|PMID:10612827|PMID:10722962|PMID:10832829|PMID:10841222|PMID:10909857|PMID:11039581|PMID:11185740|PMID:11241855|PMID:11257468|PMID:11381192|PMID:11388892|PMID:11409318|PMID:11524473|PMID:11710958|PMID:12111668|PMID:12123485|PMID:12233050|PMID:12324874|PMID:12354438|PMID:12359139|PMID:12398835|PMID:12467752|PMID:12632325|PMID:12673664|PMID:12674656|PMID:12754415|PMID:12754707|PMID:12794683|PMID:12920092|PMID:1301174|PMID:1301934|PMID:1307253|PMID:1363782|PMID:13679720|PMID:1383546|PMID:14514278|PMID:14641995|PMID:14652441|PMID:14659407|PMID:14695533|PMID:14961551|PMID:14962982|PMID:1496988|PMID:14973546|PMID:14977063|PMID:15038390|PMID:1513469|PMID:15253946|PMID:15319032|PMID:15351422|PMID:1549596|PMID:15528988|PMID:15637982|PMID:15643612|PMID:15655674|PMID:15684864|PMID:15723292|PMID:15841391|PMID:15845029|PMID:15952989|PMID:15976104|PMID:15979033|PMID:1601417|PMID:16030524|PMID:16049303|PMID:16077730|PMID:16199547|PMID:16331671|PMID:16439068|PMID:16566881|PMID:16770791|PMID:16834926|PMID:16883524|PMID:16917894|PMID:16936400|PMID:16950195|PMID:17024373|PMID:17041906|PMID:17124406|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17380674|PMID:17435279|PMID:17561468|PMID:17576681|PMID:17680544|PMID:17726484|PMID:17826093|PMID:1785409|PMID:17854090|PMID:17880784|PMID:17952667|PMID:18054699|PMID:18055393|PMID:18059005|PMID:18261911|PMID:18348289|PMID:18353051|PMID:18393226|PMID:18403565|PMID:18445268|PMID:18583217|PMID:1864612|PMID:18646563|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18683213|PMID:1868831|PMID:18752307|PMID:18853462|PMID:1889805|PMID:18974567|PMID:19001018|PMID:19040728|PMID:19065519|PMID:19073314|PMID:19074751|PMID:19084397|PMID:19158079|PMID:19206170|PMID:19230662|PMID:19309270|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19449433|PMID:19461958|PMID:19530190|PMID:19602481|PMID:19730022|PMID:19760747|PMID:19763152|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19835634|PMID:19837995|PMID:19907931|PMID:19937601|PMID:19959795|PMID:20031633|PMID:20036901|PMID:20098710|PMID:20153965|PMID:20307669|PMID:20381484|PMID:2040695|PMID:20457930|PMID:20485447|PMID:20630757|PMID:2063877|PMID:20683981|PMID:20696926|PMID:2071150|PMID:20847377|PMID:20944443|PMID:21104870|PMID:21150048|PMID:21180173|PMID:21228398|PMID:21273767|PMID:2136098|PMID:21396098|PMID:21399986|PMID:21402533|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21815800|PMID:21851881|PMID:21896784|PMID:21969337|PMID:21972111|PMID:22090376|PMID:22092019|PMID:22102647|PMID:22144684|PMID:22161109|PMID:22182525|PMID:22223181|PMID:22234188|PMID:22234189|PMID:22379338|PMID:22406018|PMID:22510846|PMID:2261642|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:22980762|PMID:23092449|PMID:2316519|PMID:23224783|PMID:23251671|PMID:23276443|PMID:23299917|PMID:23299919|PMID:23349452|PMID:23352160|PMID:23438214|PMID:23440719|PMID:23453023|PMID:23536893|PMID:2354438|PMID:23588064|PMID:23667215|PMID:23695957|PMID:23756440|PMID:23757202|PMID:23818053|PMID:23829870|PMID:2383276|PMID:23871722|PMID:23914114|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24099565|PMID:24123366|PMID:24217213|PMID:24236769|PMID:24265581|PMID:24274981|PMID:24292997|PMID:24300647|PMID:24302611|PMID:24349052|PMID:24504883|PMID:24505439|PMID:24690944|PMID:24770780|PMID:24835530|PMID:24871807|PMID:24892813|PMID:24928015|PMID:25007885|PMID:25056178|PMID:25076844|PMID:25133751|PMID:25163546|PMID:25193336|PMID:25214167|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25326637|PMID:25333069|PMID:25340340|PMID:25348330|PMID:25353622|PMID:25434822|PMID:25447171|PMID:25474345|PMID:25482253|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25640679|PMID:2573997|PMID:25741868|PMID:25761239|PMID:25937795|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26081009|PMID:26110187|PMID:26140716|PMID:26260725|PMID:26272908|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559 8978065 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy ISO RGD:736976 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Duchenne and Becker muscular dystrophy | ClinVar Annotator: match by term: Duchenne muscular dystrophy | ClinVar Annotator: match by term: Intermediate muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type | ClinVar Annotator: match by term: X-linked DMD-related dystrophinopathy PMID:26455815|PMID:26467025|PMID:26594346|PMID:26676145|PMID:26718981|PMID:26735901|PMID:26740235|PMID:26743743|PMID:26745801|PMID:26836830|PMID:26911353|PMID:2691353|PMID:26934379|PMID:26951757|PMID:26968818|PMID:26990548|PMID:27009627|PMID:27122458|PMID:27135274|PMID:27178005|PMID:27206868|PMID:27234031|PMID:27263301|PMID:27290639|PMID:27350676|PMID:27363342|PMID:27425820|PMID:27515321|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27854212|PMID:27854218|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28247318|PMID:28318817|PMID:28332368|PMID:28407826|PMID:28416588|PMID:28492532|PMID:28495050|PMID:28503591|PMID:28526893|PMID:28569743|PMID:28610567|PMID:28701297|PMID:28750076|PMID:28777860|PMID:28798025|PMID:28859693|PMID:28878337|PMID:28878402|PMID:29016797|PMID:29188604|PMID:29196072|PMID:29246534|PMID:29261181|PMID:29304097|PMID:29365344|PMID:29386531|PMID:29390271|PMID:29511324|PMID:29517769|PMID:29578119|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29778277|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29892087|PMID:29901616|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30275481|PMID:30293248|PMID:30342905|PMID:30406066|PMID:30415094|PMID:30467404|PMID:30564623|PMID:30816495|PMID:30827497|PMID:30833962|PMID:30907348|PMID:30938079|PMID:30944907|PMID:31069529|PMID:31081998|PMID:31127727|PMID:31139960|PMID:31197268|PMID:31216405|PMID:31302907|PMID:31333075|PMID:31379145|PMID:31397097|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31475473|PMID:31514951|PMID:31568572|PMID:31648988|PMID:31661024|PMID:31671740|PMID:31690835|PMID:31705731|PMID:31706698|PMID:31708335|PMID:31719299|PMID:31727011|PMID:31737537|PMID:31919629|PMID:31983221|PMID:32013268|PMID:32047267|PMID:32055135|PMID:32169422|PMID:32176650|PMID:32194622|PMID:32358784|PMID:32403337|PMID:32419263|PMID:32488064|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32860008|PMID:32906206|PMID:32962870|PMID:32969603|PMID:33029525|PMID:33101180|PMID:33106653|PMID:33144682|PMID:33238405|PMID:33250842|PMID:33420945|PMID:33644936|PMID:33773883|PMID:33829027|PMID:33843695|PMID:3393617|PMID:34008892|PMID:34103343|PMID:34106991|PMID:34268379|PMID:34297739|PMID:34327855|PMID:34404389|PMID:34629887|PMID:34906502|PMID:34950096|PMID:35135626|PMID:35165973|PMID:35428841|PMID:36315559|PMID:36409343|PMID:7041906|PMID:7496177|PMID:7581396|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7649554|PMID:7668256|PMID:7747792|PMID:7825571|PMID:7825572|PMID:7849724|PMID:7853367|PMID:7881286|PMID:7897627|PMID:7951251|PMID:7951253|PMID:7981590|PMID:7981690|PMID:8004097|PMID:8034300|PMID:8149204|PMID:8160755|PMID:8199594|PMID:8281150|PMID:8301652|PMID:8317478|PMID:8353493|PMID:8361506|PMID:8364587|PMID:8401539|PMID:8401582|PMID:8413368|PMID:8423832|PMID:8429320|PMID:8452597|PMID:8499922|PMID:8533818|PMID:8543940|PMID:8589698|PMID:8628480|PMID:8784808|PMID:8789442|PMID:8817332|PMID:8840114|PMID:8840119|PMID:9007319|PMID:9028449|PMID:9040743|PMID:9067763|PMID:9143930|PMID:9170407|PMID:9195228|PMID:9225508|PMID:9298822|PMID:9441825|PMID:9447607|PMID:9470882|PMID:9536098|PMID:9544849|PMID:9619643|PMID:9628192|PMID:9760747|PMID:9800909|PMID:9805122|PMID:9937601 8978065 Dmd dystrophin gene DOID:11723 Duchenne muscular dystrophy treatment ISO RGD:736976 D RGD:9068941 20200609 RGD PMID:24010700|REF_RGD_ID:12880007 8978065 Dmd dystrophin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19937601|PMID:19959795|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 8978065 Dmd dystrophin gene DOID:12849 autistic disorder ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8978065 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532 8978065 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32559196 8978065 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32559196|PMID:34103343 8978065 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29188604|PMID:32559196|PMID:34103343 8978065 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy ISO RGD:736976 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:12359139|PMID:16770791|PMID:19409785|PMID:19937601|PMID:21396098|PMID:21969337|PMID:23299917|PMID:23536893|PMID:24033266|PMID:24055113|PMID:25007885|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29188604|PMID:31081998|PMID:32559196|PMID:34103343|PMID:34106991 8978065 Dmd dystrophin gene DOID:12930 dilated cardiomyopathy severity ISO RGD:736976 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:myocardium PMID:20373002|REF_RGD_ID:6771365 8978065 Dmd dystrophin gene DOID:13399 color blindness ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Color vision defect PMID:16199547|PMID:16770791|PMID:19937601|PMID:25007885|PMID:27234031|PMID:28492532|PMID:30827497|PMID:34106991 8978065 Dmd dystrophin gene DOID:1561 cognitive disorder severity ISO RGD:736976 D RGD:9068941 20200609 RGD DNA:deletion:promoter,start site: PMID:24265581|REF_RGD_ID:12879884 8978065 Dmd dystrophin gene DOID:182 calcinosis ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18340010 8978065 Dmd dystrophin gene DOID:1824 status epilepticus ISO RGD:2507 D RGD:9068941 20200609 RGD protein:decreased expression:piriform cortex PMID:20886625|REF_RGD_ID:5148023 8978065 Dmd dystrophin gene DOID:1824 status epilepticus ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886625 8978065 Dmd dystrophin gene DOID:1882 atrial heart septal defect ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 8978065 Dmd dystrophin gene DOID:1967 leiomyosarcoma ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 8978065 Dmd dystrophin gene DOID:2843 long QT syndrome ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:18583217|PMID:24033266|PMID:24690944|PMID:25741868|PMID:26467025|PMID:28492532 8978065 Dmd dystrophin gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 8978065 Dmd dystrophin gene DOID:397 restrictive cardiomyopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:14695533|PMID:15643612|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 8978065 Dmd dystrophin gene DOID:423 myopathy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 8978065 Dmd dystrophin gene DOID:4724 brain edema ISO RGD:2507 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:22338606|REF_RGD_ID:6771363 8978065 Dmd dystrophin gene DOID:5419 schizophrenia ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8978065 Dmd dystrophin gene DOID:6000 congestive heart failure ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:25741868|PMID:28492532 8978065 Dmd dystrophin gene DOID:630 genetic disease ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19367636|PMID:21104870|PMID:25637381|PMID:25741868|PMID:26365249|PMID:26467025|PMID:28492532|PMID:31648988|PMID:33644936|PMID:35135626|PMID:36409343|PMID:9536098 8978065 Dmd dystrophin gene DOID:767 muscular atrophy ISO RGD:736976 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868 8978065 Dmd dystrophin gene DOID:820 myocarditis ISO RGD:10479 D RGD:9068941 20200609 RGD associated with Duchenne muscular dystrophy PMID:15917272|REF_RGD_ID:13702901 8978065 Dmd dystrophin gene DOID:83 cataract disease_progression ISO RGD:10479 D RGD:9068941 20200609 RGD PMID:25489223|REF_RGD_ID:12879865 8978065 Dmd dystrophin gene DOID:8466 retinal degeneration disease_progression ISO RGD:2507 D RGD:9068941 20200609 RGD PMID:10359335|REF_RGD_ID:1300412 8978065 Dmd dystrophin gene DOID:9000373 Muscle Cramp ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle cramps PMID:16770791|PMID:17253928|PMID:25007885|PMID:25741868|PMID:28492532|PMID:34106991 8978065 Dmd dystrophin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:19937601|PMID:28492532 8978065 Dmd dystrophin gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22795790 8978065 Dmd dystrophin gene DOID:9000965 Neoplasm Metastasis ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 8978065 Dmd dystrophin gene DOID:9001510 Funnel Chest ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: funnel chest PMID:16770791|PMID:17041906|PMID:23536893|PMID:25007885|PMID:25741868|PMID:26046366|PMID:28492532 8978065 Dmd dystrophin gene DOID:9001836 Cardiac Conduction Defect ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:25741868|PMID:28492532 8978065 Dmd dystrophin gene DOID:9002833 Exertional Myalgia, Muscle Stiffness and Myoglobinuria ISO RGD:736976 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Exertional myalgia, muscle stiffness and myoglobinuria PMID:19367636|PMID:21104870|PMID:25637381|PMID:25741868|PMID:26365249|PMID:26467025|PMID:28492532|PMID:31648988|PMID:33644936|PMID:35135626|PMID:36409343 8978065 Dmd dystrophin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:736976 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25741868|PMID:28492532 8978065 Dmd dystrophin gene DOID:9003139 Cardiac Fibrosis ISO RGD:2507 D RGD:9068941 20200609 RGD PMID:25310701|REF_RGD_ID:12880034 8978065 Dmd dystrophin gene DOID:9003163 Heart Block ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868|PMID:28492532 8978065 Dmd dystrophin gene DOID:9003936 Cardiomegaly ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23297412 8978065 Dmd dystrophin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8978065 Dmd dystrophin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 8978065 Dmd dystrophin gene DOID:9004866 Ataxia ISO RGD:736976 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:30074247 8978065 Dmd dystrophin gene DOID:9005532 Muscle Weakness ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:16770791|PMID:17253928|PMID:25007885|PMID:25741868|PMID:28492532|PMID:34106991 8978065 Dmd dystrophin gene DOID:9005749 Necrosis ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22795790 8978065 Dmd dystrophin gene DOID:9006205 Animal Disease Models ISO RGD:736976 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:22795790|PMID:26930420|PMID:30074247 8978065 Dmd dystrophin gene DOID:9006743 Spasm ISO RGD:736976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle spasm PMID:16770791|PMID:17253928|PMID:25007885|PMID:25741868|PMID:28492532|PMID:34106991 8978065 Dmd dystrophin gene DOID:9007039 Ventricular Dysfunction ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21273767 8978065 Dmd dystrophin gene DOID:9007090 Experimental Seizures ISO RGD:2507 D RGD:9068941 20200609 RGD PMID:9539217|REF_RGD_ID:12880363 8978065 Dmd dystrophin gene DOID:9007993 Dehydration ISO RGD:2507 D RGD:9068941 20200609 RGD protein:decreased expression:neurohypophysial lobe: PMID:9858364|REF_RGD_ID:12880360 8978065 Dmd dystrophin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793134 8978065 Dmd dystrophin gene DOID:9256 colorectal cancer ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer 8978065 Dmd dystrophin gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8978065 Dmd dystrophin gene DOID:930 orbital disease ISO RGD:736976 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Exophthalmos PMID:16770791|PMID:17041906|PMID:23536893|PMID:25007885|PMID:25741868|PMID:26046366|PMID:28492532 8978065 Dmd dystrophin gene DOID:9883 Becker muscular dystrophy ISO RGD:736976 D RGD:7240710 20180228 OMIM 8978065 Dmd dystrophin gene DOID:9883 Becker muscular dystrophy ISO RGD:736976 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy | ClinVar Annotator: match by term: Becker muscular dystrophy, atypical | ClinVar Annotator: match by term: Becker's muscular dystrophy | ClinVar Annotator: match by term: Benign pseudohypertrophic muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:10094565|PMID:10320864|PMID:10464635|PMID:1047858|PMID:10533061|PMID:10832829|PMID:10909857|PMID:11039581|PMID:11053684|PMID:11241855|PMID:11257468|PMID:11524473|PMID:11710958|PMID:12233050|PMID:12354438|PMID:12359139|PMID:12467752|PMID:12522557|PMID:12632325|PMID:12754707|PMID:13679720|PMID:14659407|PMID:14695533|PMID:14973546|PMID:15253946|PMID:15351422|PMID:1549596|PMID:15643612|PMID:15655674|PMID:15723292|PMID:1577476|PMID:15952989|PMID:16049303|PMID:16199547|PMID:1632439|PMID:16566881|PMID:16770791|PMID:16834926|PMID:17041906|PMID:17145200|PMID:17253928|PMID:17259292|PMID:17435279|PMID:1757094|PMID:17576681|PMID:17726484|PMID:17826093|PMID:17854090|PMID:17880784|PMID:18583217|PMID:18652600|PMID:18653336|PMID:18663755|PMID:18846679|PMID:19074751|PMID:19158079|PMID:19206170|PMID:19367636|PMID:19409785|PMID:19449031|PMID:19530190|PMID:19602481|PMID:19760747|PMID:19783145|PMID:19793655|PMID:19823873|PMID:19937601|PMID:19959795|PMID:1996328|PMID:20098710|PMID:20457930|PMID:20485447|PMID:20696926|PMID:21104870|PMID:21396098|PMID:21399986|PMID:21515508|PMID:21520333|PMID:21525508|PMID:21681106|PMID:21851881|PMID:21969337|PMID:21972111|PMID:22223181|PMID:22678781|PMID:22776072|PMID:22894145|PMID:22910583|PMID:23251671|PMID:23299917|PMID:23299919|PMID:23453023|PMID:23536893|PMID:23588064|PMID:23756440|PMID:23757202|PMID:23871722|PMID:24033266|PMID:24055113|PMID:24066114|PMID:24265581|PMID:24292997|PMID:24300647|PMID:24349052|PMID:24690944|PMID:25007885|PMID:25163546|PMID:25227141|PMID:25231023|PMID:25244321|PMID:25333069|PMID:25447171|PMID:25474345|PMID:25525159|PMID:25612904|PMID:25636106|PMID:25637381|PMID:25741868|PMID:25761239|PMID:25972034|PMID:26046366|PMID:26066469|PMID:26260725|PMID:26284620|PMID:26350204|PMID:26365249|PMID:26392559|PMID:26455815|PMID:26467025|PMID:26594346|PMID:26743743|PMID:2677830|PMID:26911353|PMID:26934379|PMID:26968818|PMID:27122458|PMID:27178005|PMID:27263301|PMID:27363342|PMID:27582364|PMID:27593222|PMID:27708273|PMID:27750387|PMID:27896284|PMID:27898983|PMID:27930565|PMID:28100912|PMID:28116794|PMID:28181471|PMID:28181689|PMID:28318817|PMID:28416588|PMID:28492532|PMID:28503591|PMID:28701297|PMID:28750076|PMID:28798025|PMID:28859693|PMID:28878402|PMID:29188604|PMID:29196072|PMID:29365344|PMID:29511324|PMID:29517769|PMID:29581631|PMID:29604111|PMID:29610182|PMID:29641567|PMID:29778277|PMID:29792937|PMID:29847600|PMID:29874176|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29973226|PMID:30086531|PMID:30342905|PMID:30467404|PMID:30833962|PMID:30907348|PMID:31081998|PMID:31127727|PMID:31216405|PMID:31333075|PMID:31404137|PMID:31412794|PMID:31443951|PMID:31514951|PMID:31568572|PMID:31648988|PMID:31671740|PMID:31708335|PMID:31727011|PMID:31983221|PMID:32047267|PMID:32194622|PMID:32358784|PMID:32419263|PMID:32528171|PMID:32559196|PMID:32669210|PMID:32746448|PMID:32813700|PMID:32969603|PMID:33101180|PMID:33106653|PMID:33420945|PMID:33644936|PMID:33773883|PMID:33829027|PMID:3393617|PMID:34008892|PMID:34297739|PMID:35135626|PMID:36409343|PMID:7041906|PMID:7599634|PMID:7599638|PMID:7611292|PMID:7668256|PMID:7849724|PMID:7881286|PMID:7951253|PMID:7981690|PMID:8279470|PMID:8281150|PMID:8301652|PMID:8322822|PMID:8401537|PMID:8504498|PMID:8789442|PMID:8840119|PMID:9067763|PMID:9170407|PMID:9410897|PMID:9536098|PMID:9544849|PMID:9805122 8978065 Dmd dystrophin gene DOID:9884 muscular dystrophy ISO RGD:736976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:10465346|PMID:11185740|PMID:1549142|PMID:16030524|PMID:16770791|PMID:18752307|PMID:19449031|PMID:20031633|PMID:20301298|PMID:2063877|PMID:23299919|PMID:24033266|PMID:24135430|PMID:25007885|PMID:25244321|PMID:25741868|PMID:28492532|PMID:9327405 8978167 St18 ST18 C2H2C-type zinc finger transcription factor gene DOID:630 genetic disease ISO RGD:736954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978206 Baiap2l1 BAR/IMD domain containing adaptor protein 2 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8978206 Baiap2l1 BAR/IMD domain containing adaptor protein 2 like 1 gene DOID:630 genetic disease ISO RGD:1352215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978206 Baiap2l1 BAR/IMD domain containing adaptor protein 2 like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1352215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 8978244 Zswim5 zinc finger SWIM-type containing 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8978244 Zswim5 zinc finger SWIM-type containing 5 gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1321821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 8978244 Zswim5 zinc finger SWIM-type containing 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1321821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8978244 Zswim5 zinc finger SWIM-type containing 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8978244 Zswim5 zinc finger SWIM-type containing 5 gene DOID:630 genetic disease ISO RGD:1321821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978244 Zswim5 zinc finger SWIM-type containing 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1321821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 8978269 Trabd2b TraB domain containing 2B gene DOID:630 genetic disease ISO RGD:6770286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978280 Riok2 RIO kinase 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1323125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8978280 Riok2 RIO kinase 2 gene DOID:630 genetic disease ISO RGD:1323125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978280 Riok2 RIO kinase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8978280 Riok2 RIO kinase 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323125 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8978313 Aunip aurora kinase A and ninein interacting protein gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1601974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 8978313 Aunip aurora kinase A and ninein interacting protein gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1601974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8978313 Aunip aurora kinase A and ninein interacting protein gene DOID:630 genetic disease ISO RGD:1601974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978326 Cisd1 CDGSH iron sulfur domain 1 gene DOID:630 genetic disease ISO RGD:1319915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978338 Bach2 BTB domain and CNC homolog 2 gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1319503 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 PMID:28492532 8978338 Bach2 BTB domain and CNC homolog 2 gene DOID:0111954 immunodeficiency 60 ISO RGD:1319503 D RGD:7240710 20190515 OMIM 8978338 Bach2 BTB domain and CNC homolog 2 gene DOID:0111954 immunodeficiency 60 ISO RGD:1319503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BACH2-related condition | ClinVar Annotator: match by term: Immunodeficiency 60 PMID:25741868|PMID:28492532|PMID:28530713 8978338 Bach2 BTB domain and CNC homolog 2 gene DOID:10608 celiac disease ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 8978338 Bach2 BTB domain and CNC homolog 2 gene DOID:12306 vitiligo ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 8978338 Bach2 BTB domain and CNC homolog 2 gene DOID:630 genetic disease ISO RGD:1319503 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8978338 Bach2 BTB domain and CNC homolog 2 gene DOID:8778 Crohn's disease ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 8978338 Bach2 BTB domain and CNC homolog 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21441929 8978338 Bach2 BTB domain and CNC homolog 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1319503 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18978792 8978363 Sbds SBDS ribosome maturation factor gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1322290 D RGD:7240710 20240308 OMIM 8978363 Sbds SBDS ribosome maturation factor gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:1322290 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17478638|PMID:17916435|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22491737|PMID:22934832|PMID:22935661|PMID:23351992|PMID:24033266|PMID:24388329|PMID:24629175|PMID:24898207|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26479198|PMID:26822237|PMID:28509441|PMID:31321910|PMID:31589614|PMID:32150944|PMID:32581362|PMID:34308104 8978363 Sbds SBDS ribosome maturation factor gene DOID:1059 intellectual disability ISO RGD:1322290 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21695142|PMID:25741868 8978363 Sbds SBDS ribosome maturation factor gene DOID:10907 microcephaly ISO RGD:1322290 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17478638|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:32150944|PMID:32581362 8978363 Sbds SBDS ribosome maturation factor gene DOID:11175 enophthalmos ISO RGD:1322290 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Enophthalmos PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17478638|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:32150944|PMID:32581362 8978363 Sbds SBDS ribosome maturation factor gene DOID:12449 aplastic anemia ISO RGD:1322290 D RGD:7240710 20240308 OMIM 8978363 Sbds SBDS ribosome maturation factor gene DOID:12449 aplastic anemia ISO RGD:1322290 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17478638|PMID:17916435|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22491737|PMID:22934832|PMID:22935661|PMID:23351992|PMID:24033266|PMID:24388329|PMID:24629175|PMID:24898207|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26479198|PMID:26822237|PMID:32150944|PMID:32581362 8978363 Sbds SBDS ribosome maturation factor gene DOID:14755 argininosuccinic aciduria ISO RGD:1322290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 8978363 Sbds SBDS ribosome maturation factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8978363 Sbds SBDS ribosome maturation factor gene DOID:630 genetic disease ISO RGD:1322290 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17478638|PMID:17916435|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:23351992|PMID:24033266|PMID:24388329|PMID:24629175|PMID:24898207|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:28509441|PMID:31321910|PMID:32150944|PMID:32581362 8978363 Sbds SBDS ribosome maturation factor gene DOID:9002720 Splenomegaly ISO RGD:1322290 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Enlarged Spleen PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17478638|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:32150944|PMID:32581362 8978363 Sbds SBDS ribosome maturation factor gene DOID:9007212 Anodontia of Permanent Dentition ISO RGD:1322290 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Anodontia of permanent dentition PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17478638|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:32150944|PMID:32581362 8978363 Sbds SBDS ribosome maturation factor gene DOID:9007661 Dwarfism ISO RGD:1322290 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Short stature PMID:12496757|PMID:14749921|PMID:15284109|PMID:15769891|PMID:15860664|PMID:15942154|PMID:17478638|PMID:19148133|PMID:20301722|PMID:21695142|PMID:22934832|PMID:22935661|PMID:24033266|PMID:24388329|PMID:24629175|PMID:25525159|PMID:25729736|PMID:25741868|PMID:26822237|PMID:32150944|PMID:32581362 8978372 Sh3tc1 SH3 domain and tetratricopeptide repeats 1 gene DOID:630 genetic disease ISO RGD:1313741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978372 Sh3tc1 SH3 domain and tetratricopeptide repeats 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313741 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 8978403 LOC102010497 chromosome unknown open reading frame, human C16orf54 gene DOID:0060041 autism spectrum disorder ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 8978403 LOC102010497 chromosome unknown open reading frame, human C16orf54 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1605828 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 8978403 LOC102010497 chromosome unknown open reading frame, human C16orf54 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1605828 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 8978403 LOC102010497 chromosome unknown open reading frame, human C16orf54 gene DOID:0080600 COVID-19 ISO RGD:1605828 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8978403 LOC102010497 chromosome unknown open reading frame, human C16orf54 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605828 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 8978403 LOC102010497 chromosome unknown open reading frame, human C16orf54 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1605828 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 8978403 LOC102010497 chromosome unknown open reading frame, human C16orf54 gene DOID:12849 autistic disorder ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8978403 LOC102010497 chromosome unknown open reading frame, human C16orf54 gene DOID:5419 schizophrenia ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8978403 LOC102010497 chromosome unknown open reading frame, human C16orf54 gene DOID:630 genetic disease ISO RGD:1605828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978403 LOC102010497 chromosome unknown open reading frame, human C16orf54 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8978415 B3galt4 beta-1,3-galactosyltransferase 4 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1343637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8978415 B3galt4 beta-1,3-galactosyltransferase 4 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1343637 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8978415 B3galt4 beta-1,3-galactosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1343637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:0050685 small cell carcinoma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20946520 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:0050746 mantle cell lymphoma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17148679 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:0060041 autism spectrum disorder ISO RGD:68533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68533 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:68533 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:28492532 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:0080162 lupus nephritis ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:17283580|REF_RGD_ID:7245502 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:0080322 polycystic kidney disease ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22160773|REF_RGD_ID:7245545 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:0080855 Parkinsonism treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:20089925|REF_RGD_ID:10040992 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729223 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:68371 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cholangiocyte PMID:24498161|REF_RGD_ID:10040950 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:0111936 immunodeficiency 14 ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:10283 prostate cancer treatment ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:23094058|REF_RGD_ID:10041034 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:1059 intellectual disability ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:23636326|PMID:24631838|PMID:25741868|PMID:25851998|PMID:26542245|PMID:27159400|PMID:27513193|PMID:27753196|PMID:28475857|PMID:28492532|PMID:28892148|PMID:31441589|PMID:32581362|PMID:33077954 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:10762 portal hypertension treatment ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis PMID:24404143|REF_RGD_ID:10041031 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:10763 hypertension ISO RGD:68371 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:23323219|REF_RGD_ID:10041025 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:10763 hypertension ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:10952 nephritis ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:22696604|REF_RGD_ID:7245508 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:11054 urinary bladder cancer ISO RGD:68533 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:11054 urinary bladder cancer treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:19261747|REF_RGD_ID:10040979 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:11446 sciatic neuropathy ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:20452291|REF_RGD_ID:10041037 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:13139 crescentic glomerulonephritis ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:21403644|REF_RGD_ID:7245940 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:13316 exocrine pancreatic insufficiency ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29384525 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:13949 interstitial cystitis ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:22738385|REF_RGD_ID:7245526 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:1793 pancreatic cancer ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23149918|REF_RGD_ID:10040959 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:1824 status epilepticus ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23724051|REF_RGD_ID:10041026 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:1824 status epilepticus ISO RGD:68371 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:hippocampus PMID:23211629|REF_RGD_ID:7175521 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:1826 epilepsy ISO RGD:68533 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:27830187|PMID:28492532 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:1909 melanoma ISO RGD:68533 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:20190810|PMID:24631838|PMID:25741868|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:1936 atherosclerosis ameliorates ISO RGD:68534 D RGD:9068941 20230330 RGD ApoE knockout mice PMID:30529164|REF_RGD_ID:243048424 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:219 colon cancer treatment ISO RGD:68371 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:224 transient cerebral ischemia treatment ISO RGD:68371 D RGD:9068941 20230105 RGD PMID:30712471|REF_RGD_ID:155791663 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:2671 transitional cell carcinoma ISO RGD:68533 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:24625776|PMID:25741868|PMID:28492532 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:21444868|REF_RGD_ID:7245946 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:28 endocrine system disease ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29384525 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:299 adenocarcinoma ISO RGD:68533 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:18058806|PMID:33129824 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:3021 acute kidney failure ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23022334|REF_RGD_ID:7245507 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:3068 glioblastoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:20190810|PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:3070 high grade glioma severity ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:20878445|REF_RGD_ID:13702868 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:19474323|REF_RGD_ID:10041000 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:3371 chondrosarcoma disease_progression ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22761648|REF_RGD_ID:10040952 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:3525 middle cerebral artery infarction ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:24583056|REF_RGD_ID:10040971 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:21185267|PMID:23777415|REF_RGD_ID:10040974|REF_RGD_ID:10041016 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:3602 toxic encephalopathy ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16955484 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:363 uterine cancer ISO RGD:68533 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:20190810|PMID:24631838|PMID:25741868|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:26619011 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:3770 pulmonary fibrosis ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28936961 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:4450 renal cell carcinoma ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:20190810|PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:4451 renal carcinoma ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carcinoma PMID:17360675|PMID:20190810|PMID:24622468|PMID:24631838|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27482884|PMID:27830187|PMID:29281825 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:4465 papillary renal cell carcinoma ISO RGD:68533 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:20190810|PMID:24631838|PMID:25741868|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:4905 pancreatic carcinoma treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:25425965|REF_RGD_ID:11570510 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:5199 ureteral obstruction ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22085202|REF_RGD_ID:10041001 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:68533 D RGD:9068941 20200609 RGD DNA:SNP: :rs2536(human) PMID:28280736|REF_RGD_ID:13825123 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:5419 schizophrenia ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:5419 schizophrenia treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23027611|REF_RGD_ID:10041022 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:5844 myocardial infarction ISO RGD:68371 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:heart PMID:20352476|REF_RGD_ID:10041035 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:5844 myocardial infarction treatment ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23773982|REF_RGD_ID:10041040 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:6000 congestive heart failure ISO RGD:68533 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:20861467|REF_RGD_ID:10003169 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:630 genetic disease ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23636326|PMID:24631838|PMID:25741868|PMID:25851998|PMID:26542245|PMID:27159400|PMID:27513193|PMID:27753196|PMID:28475857|PMID:28492532|PMID:28892148|PMID:31441589|PMID:32581362|PMID:33077954 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:6432 pulmonary hypertension ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23470622|REF_RGD_ID:10041039 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:684 hepatocellular carcinoma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:684 hepatocellular carcinoma severity ISO RGD:68533 D RGD:9068941 20220623 RGD mRNA, protein:increased expression:liver (human) PMID:25371154|REF_RGD_ID:152995471 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:767 muscular atrophy treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:19260063|REF_RGD_ID:10041027 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:783 end stage renal disease treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22427849|REF_RGD_ID:10040968 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:8398 osteoarthritis ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:24651621|REF_RGD_ID:10003163 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:8398 osteoarthritis treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:22084394|REF_RGD_ID:10003165 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:8411 kidney angiomyolipoma treatment ISO RGD:68533 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis PMID:23054313|REF_RGD_ID:7245506 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:8725 vascular dementia ISO RGD:68371 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:23053837|REF_RGD_ID:10401142 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:8923 skin melanoma ISO RGD:68533 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:20190810|PMID:24631838|PMID:25741868|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:23195001|REF_RGD_ID:7245504 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:20678995|REF_RGD_ID:10040962 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9000081 Lymphatic Metastasis ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9000310 Lung Injury ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:22483544|REF_RGD_ID:7245567 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9000547 CEBALID Syndrome ISO RGD:68533 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CEBALID syndrome | ClinVar Annotator: match by term: MN1 C-TERMINAL TRUNCATION SYNDROME PMID:22729223|PMID:23636326|PMID:24625776|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:25851998|PMID:26542245|PMID:26619011|PMID:27159400|PMID:27513193|PMID:27753196|PMID:27830187|PMID:28475857|PMID:28492532|PMID:28892148|PMID:29051493|PMID:30569621|PMID:31441589|PMID:32581362|PMID:33077954|PMID:33833411 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9000887 Muscular Dystrophy, Animal ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:20008564|REF_RGD_ID:10040985 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:23149918|REF_RGD_ID:10040959 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:25454463|REF_RGD_ID:10040998 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:24204984|REF_RGD_ID:10041042 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23985719|REF_RGD_ID:10041002 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23827786|REF_RGD_ID:10003168 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9002165 Diabetic Nephropathies ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:21606597|REF_RGD_ID:7245564 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:68533 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs7212142(human) PMID:28536139|REF_RGD_ID:13506787 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9002211 Hyperalgesia ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:24382350|REF_RGD_ID:10040983 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9002304 Prostatic Neoplasms ISO RGD:68533 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9002457 Experimental Arthritis treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22391142|REF_RGD_ID:10041007 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:24602288|REF_RGD_ID:10041041 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9002762 Ovarian Neoplasms ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20138251|PMID:30705370 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9002928 Colonic Neoplasms ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:68533 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:20190810|PMID:24631838|PMID:25741868|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9003566 Mesothelioma ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21358348 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9003816 Macrocephaly ISO RGD:68533 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:28492532|PMID:33077954|PMID:34197453 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9003936 Cardiomegaly ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Aortic Valve Stenosis PMID:20861467|REF_RGD_ID:10003169 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9004356 Smith-Kingsmore Syndrome ISO RGD:68533 D RGD:7240710 20180130 OMIM 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9004356 Smith-Kingsmore Syndrome ISO RGD:68533 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME | ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome PMID:17576681|PMID:21210909|PMID:23322780|PMID:23636326|PMID:24625776|PMID:24631838|PMID:25741868|PMID:25799227|PMID:25851998|PMID:26542245|PMID:26619011|PMID:27159400|PMID:27279227|PMID:27482884|PMID:27513193|PMID:27753196|PMID:27830187|PMID:28475857|PMID:28492532|PMID:28554332|PMID:28892148|PMID:29051493|PMID:29281825|PMID:31441589|PMID:31444548|PMID:32581362|PMID:33077954|PMID:9536098 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68533 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9004484 Sepsis ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:20577146|REF_RGD_ID:10041013 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:15367823|REF_RGD_ID:1582609 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9005172 Lung Neoplasms treatment ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:19966866|REF_RGD_ID:11568678 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:22349822|REF_RGD_ID:10040957 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9005290 Diabetes Mellitus, New-Onset after Transplantation ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:22645144|REF_RGD_ID:10040997 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9005369 Hepatomegaly ISO RGD:68533 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:30641053 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9005372 Inflammation treatment ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Status Epilepticus PMID:23211629|REF_RGD_ID:7175521 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68371 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:muscle PMID:28536139|REF_RGD_ID:13506787 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:21357504|REF_RGD_ID:10041003 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9006281 Temporomandibular Joint Disorders ISO RGD:68371 D RGD:9068941 20200609 RGD PMID:23386193|REF_RGD_ID:10041017 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9006599 Hypertriglyceridemia ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Insulin Resistance PMID:20566415|REF_RGD_ID:10040984 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:68534 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:68533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:20190810|PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9007730 Burns ISO RGD:68371 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:skeletal muscle PMID:20594757|REF_RGD_ID:10041043 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9007748 Retinal Neovascularization ISO RGD:68534 D RGD:9068941 20200609 RGD associated with Oxygen-Induced Retinopathy PMID:25366488|REF_RGD_ID:10003164 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:68533 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:20190810|PMID:24631838|PMID:25741868|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9008237 Hemimegalencephaly ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Unilateral Megalencephaly PMID:24631838|PMID:25799227|PMID:26619011|PMID:28864461|PMID:29281825 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9008394 Drug-Induced Dyskinesia treatment ISO RGD:68371 D RGD:9068941 20200609 RGD associated with Parkinsonian Disorders PMID:23938307|REF_RGD_ID:10040953 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:68533 D RGD:7240710 20190315 OMIM 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:68533 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Focal cortical dysplasia type 2 PMID:17360675|PMID:17576681|PMID:20190810|PMID:23636326|PMID:24631838|PMID:25741868|PMID:25799227|PMID:25851998|PMID:25878179|PMID:26018084|PMID:26542245|PMID:26619011|PMID:27159400|PMID:27482884|PMID:27513193|PMID:27753196|PMID:27830187|PMID:28475857|PMID:28492532|PMID:28892148|PMID:29281825|PMID:30569621|PMID:31441589|PMID:32581362|PMID:33077954|PMID:33833411|PMID:9536098 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9008443 Colorectal Neoplasms ISO RGD:68533 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:20190810|PMID:24631838|PMID:25741868|PMID:26018084|PMID:26619011|PMID:27159400|PMID:27830187 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:68533 D RGD:9068941 20200609 RGD PMID:23678040|REF_RGD_ID:7245474 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9008782 AIDS-Associated Nephropathy ISO RGD:68534 D RGD:9068941 20200609 RGD PMID:23678040|REF_RGD_ID:7245474 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9008939 Breast Neoplasms ISO RGD:68533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:22729223|PMID:24631838|PMID:25599672|PMID:25741868|PMID:25799227|PMID:26619011|PMID:28492532|PMID:28864461|PMID:28892148|PMID:29281825 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:68371 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hippocampus PMID:23165862|REF_RGD_ID:13506788 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:68533 D RGD:9068941 20200609 RGD DNA:SNP: :rs7212142(human) PMID:28536139|REF_RGD_ID:13506787 8978419 Mtor mechanistic target of rapamycin kinase gene DOID:9970 obesity ISO RGD:68371 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hypothalamus PMID:25807795|REF_RGD_ID:11570513 8978481 Rnf135 ring finger protein 135 gene DOID:0060041 autism spectrum disorder ISO RGD:1313173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:17632510|PMID:30665703|PMID:30763456 8978481 Rnf135 ring finger protein 135 gene DOID:0060403 chromosome 17q11.2 deletion syndrome ISO RGD:1313173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome PMID:17632510|PMID:21681106|PMID:25741868|PMID:27535533|PMID:28135719|PMID:30665703|PMID:30763456 8978481 Rnf135 ring finger protein 135 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1313173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8978481 Rnf135 ring finger protein 135 gene DOID:1969 cerebral palsy ISO RGD:1313173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8978481 Rnf135 ring finger protein 135 gene DOID:630 genetic disease ISO RGD:1313173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978481 Rnf135 ring finger protein 135 gene DOID:9006257 Growth Disorders ISO RGD:1313173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632510 8978481 Rnf135 ring finger protein 135 gene DOID:9008086 Developmental Disabilities ISO RGD:1313173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1603953 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:0070032 autosomal dominant intellectual developmental disorder 2 ISO RGD:1603953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 2 PMID:28492532 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:0080545 hyper IgE syndrome ISO RGD:1603953 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome | ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive PMID:14722525|PMID:16199547|PMID:16391785|PMID:17576681|PMID:18060736|PMID:19776401|PMID:20004785|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22006977|PMID:22476911|PMID:22534316|PMID:23380217|PMID:23859592|PMID:24033266|PMID:24418481|PMID:24673638|PMID:24797421|PMID:25167861|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26573532|PMID:26659092|PMID:26680607|PMID:26744459|PMID:27379089|PMID:27398204|PMID:27457812|PMID:27872624|PMID:27890707|PMID:27980540|PMID:28070732|PMID:28191889|PMID:28492532|PMID:28750028|PMID:29058101|PMID:29483666|PMID:29867916|PMID:30425284|PMID:30564305|PMID:30697212|PMID:31242861|PMID:31596517|PMID:31980526|PMID:32108967|PMID:32135276|PMID:32531373|PMID:32888943|PMID:33251169|PMID:33290277|PMID:33587123|PMID:33809641|PMID:34093558|PMID:34662886|PMID:35753512|PMID:9536098 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1603953 D RGD:7240710 20190227 OMIM 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1603953 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS PMID:14722525|PMID:16199547|PMID:16391785|PMID:17576681|PMID:18060736|PMID:19776401|PMID:20004785|PMID:20226292|PMID:20622910|PMID:21324546|PMID:22006977|PMID:22476911|PMID:22534316|PMID:23380217|PMID:23859592|PMID:24033266|PMID:24418481|PMID:24673638|PMID:24797421|PMID:25167861|PMID:25640679|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26467025|PMID:26573532|PMID:26659092|PMID:26680607|PMID:26744459|PMID:27379089|PMID:27398204|PMID:27457812|PMID:27872624|PMID:27890707|PMID:27980540|PMID:28070732|PMID:28191889|PMID:28492532|PMID:28750028|PMID:29058101|PMID:29483666|PMID:29867916|PMID:30425284|PMID:30564305|PMID:30697212|PMID:31242861|PMID:31596517|PMID:31980526|PMID:32108967|PMID:32135276|PMID:32531373|PMID:32888943|PMID:33251169|PMID:33290277|PMID:33587123|PMID:33809641|PMID:34093558|PMID:34662886|PMID:35753512|PMID:9536098 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1603953 D RGD:9068941 20201203 RGD DNA:mutations:cds:c.2402 ���1G>A,c.1498 C>T (p.R500X)(human) PMID:29058101|REF_RGD_ID:40886273 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:104 bacterial infectious disease susceptibility ISO RGD:1603953 D RGD:9068941 20201204 RGD DNA:mutations: : PMID:25724123|REF_RGD_ID:40886274 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:1059 intellectual disability ISO RGD:1603953 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:28492532|PMID:29867916|PMID:31596517|PMID:31980526 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:2043 hepatitis B disease_progression ISO RGD:1603953 D RGD:9068941 20210108 RGD DNA:SNP::rs506121(human) PMID:32297155|REF_RGD_ID:40903057 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:3310 atopic dermatitis ISO RGD:1603953 D RGD:9068941 20210108 RGD DNA:mutations:cds: PMID:22476911|REF_RGD_ID:40903056 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:5419 schizophrenia ISO RGD:1603953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1603953 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:28492532|PMID:31980526 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:612 primary immunodeficiency disease ISO RGD:1603953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:627 severe combined immunodeficiency ISO RGD:1603953 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:14722525|PMID:16199547|PMID:18060736|PMID:19776401|PMID:24033266|PMID:25724123|PMID:25741868|PMID:26046366|PMID:26744459|PMID:27891178|PMID:28492532|PMID:29930340|PMID:30697212|PMID:31980526|PMID:32888943 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:630 genetic disease ISO RGD:1603953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:687 hepatoblastoma ISO RGD:1603953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:769 neuroblastoma ISO RGD:1603953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:8566 herpes simplex severity ISO RGD:1317066 D RGD:9068941 20210108 RGD PMID:25776845|REF_RGD_ID:11055046 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:9002801 Recurrence ISO RGD:1603953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:9007356 Eczema ISO RGD:1603953 D RGD:9068941 20201218 RGD DNA:mutations: : PMID:22534316|REF_RGD_ID:40902960 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1603953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18060736 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:934 viral infectious disease susceptibility ISO RGD:1603953 D RGD:9068941 20201204 RGD DNA:mutations: : PMID:25724123|REF_RGD_ID:40886274 8978489 Dock8 dedicator of cytokinesis 8 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1561588 D RGD:9068941 20200609 RGD PMID:26363782|REF_RGD_ID:11532657 8978545 Sergef secretion regulating guanine nucleotide exchange factor gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1603222 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8978545 Sergef secretion regulating guanine nucleotide exchange factor gene DOID:1059 intellectual disability ISO RGD:1603222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8978545 Sergef secretion regulating guanine nucleotide exchange factor gene DOID:1936 atherosclerosis ISO RGD:1603222 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 8978545 Sergef secretion regulating guanine nucleotide exchange factor gene DOID:630 genetic disease ISO RGD:1603222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978582 Atg9a autophagy related 9A gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8978582 Atg9a autophagy related 9A gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8978582 Atg9a autophagy related 9A gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8978582 Atg9a autophagy related 9A gene DOID:1148 polydactyly ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 8978582 Atg9a autophagy related 9A gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8978582 Atg9a autophagy related 9A gene DOID:630 genetic disease ISO RGD:1353328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978582 Atg9a autophagy related 9A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8978622 Myo5b myosin VB gene DOID:0060775 microvillus inclusion disease ISO RGD:736652 D RGD:7240710 20180130 OMIM 8978622 Myo5b myosin VB gene DOID:0060775 microvillus inclusion disease ISO RGD:736652 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy | ClinVar Annotator: match by term: MYO5B-related condition PMID:16199547|PMID:17576681|PMID:18724368|PMID:19006234|PMID:20186687|PMID:21206382|PMID:21282656|PMID:24014347|PMID:24033266|PMID:25111220|PMID:25741868|PMID:25741895|PMID:26553929|PMID:27242896|PMID:27532546|PMID:28027573|PMID:28492532|PMID:28899465|PMID:29266534|PMID:32304554|PMID:32888943|PMID:33525641|PMID:9536098 8978622 Myo5b myosin VB gene DOID:1059 intellectual disability ISO RGD:736652 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8978622 Myo5b myosin VB gene DOID:13250 diarrhea ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18724368 8978622 Myo5b myosin VB gene DOID:5295 intestinal disease ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18724368 8978622 Myo5b myosin VB gene DOID:630 genetic disease ISO RGD:736652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8978622 Myo5b myosin VB gene DOID:655 inherited metabolic disorder ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18724368 8978622 Myo5b myosin VB gene DOID:670 amphetamine abuse ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8978622 Myo5b myosin VB gene DOID:9003622 Progressive Familial Intrahepatic Cholestasis 10 ISO RGD:736652 D RGD:7240710 20220518 OMIM 8978622 Myo5b myosin VB gene DOID:9003622 Progressive Familial Intrahepatic Cholestasis 10 ISO RGD:736652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10 PMID:18724368|PMID:20186687|PMID:25741868|PMID:27532546|PMID:28027573|PMID:28492532|PMID:32304554|PMID:33525641 8978622 Myo5b myosin VB gene DOID:9007188 Liver Neoplasms ISO RGD:736652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 8978668 Slc6a17 solute carrier family 6 member 17 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1603474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 8978668 Slc6a17 solute carrier family 6 member 17 gene DOID:0081212 autosomal recessive intellectual developmental disorder 48 ISO RGD:1603474 D RGD:7240710 20180130 OMIM 8978668 Slc6a17 solute carrier family 6 member 17 gene DOID:0081212 autosomal recessive intellectual developmental disorder 48 ISO RGD:1603474 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome PMID:25704603|PMID:25741868|PMID:28492532 8978668 Slc6a17 solute carrier family 6 member 17 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1603474 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8978668 Slc6a17 solute carrier family 6 member 17 gene DOID:12849 autistic disorder ISO RGD:1603474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8978668 Slc6a17 solute carrier family 6 member 17 gene DOID:2843 long QT syndrome ISO RGD:1603474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8978668 Slc6a17 solute carrier family 6 member 17 gene DOID:630 genetic disease ISO RGD:1603474 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8978684 Adam11 ADAM metallopeptidase domain 11 gene DOID:630 genetic disease ISO RGD:1316754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978721 Brd1 bromodomain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984751|PMID:25255310 8978721 Brd1 bromodomain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1323531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8978721 Brd1 bromodomain containing 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8978721 Brd1 bromodomain containing 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:28492532 8978721 Brd1 bromodomain containing 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1323531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8978721 Brd1 bromodomain containing 1 gene DOID:1059 intellectual disability ISO RGD:1323531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8978721 Brd1 bromodomain containing 1 gene DOID:11832 visual epilepsy ISO RGD:1311855 D RGD:9068941 20200609 RGD PMID:22675730|REF_RGD_ID:9586108 8978721 Brd1 bromodomain containing 1 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1323531 D RGD:9068941 20200609 RGD DNA,SNP,haplotype:3'UTR: PMID:16924267|REF_RGD_ID:9586096 8978721 Brd1 bromodomain containing 1 gene DOID:5419 schizophrenia no_association ISO RGD:1323531 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs138880(human) PMID:19908236|REF_RGD_ID:9586358 8978721 Brd1 bromodomain containing 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:1323531 D RGD:9068941 20200609 RGD DNA,SNPs,haplotype:promoter,3'UTR: PMID:16924267|REF_RGD_ID:9586096 8978721 Brd1 bromodomain containing 1 gene DOID:630 genetic disease ISO RGD:1323531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978744 Sf3a2 splicing factor 3a subunit 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1318510 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8978744 Sf3a2 splicing factor 3a subunit 2 gene DOID:630 genetic disease ISO RGD:1318510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978744 Sf3a2 splicing factor 3a subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8978760 Atrnl1 attractin like 1 gene DOID:630 genetic disease ISO RGD:1607060 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978794 Preb prolactin regulatory element binding gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1352675 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8978794 Preb prolactin regulatory element binding gene DOID:630 genetic disease ISO RGD:1352675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0050557 congenital muscular dystrophy ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29260090|PMID:29382405 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0050560 Walker-Warburg syndrome ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522420|PMID:22522421 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0080000 muscular disease ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U ISO RGD:3160581 D RGD:7240710 20180808 OMIM 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U ISO RGD:3160581 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U PMID:22522420|PMID:22522421|PMID:23217329|PMID:23288328|PMID:23390185|PMID:25326635|PMID:25741868|PMID:28492532|PMID:28973083|PMID:31909476 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:25741868 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:3160581 D RGD:7240710 20180130 OMIM 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:3160581 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 PMID:10738921|PMID:12955720|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301788|PMID:22522420|PMID:22522421|PMID:23217329|PMID:2328832|PMID:23288328|PMID:23390185|PMID:24033266|PMID:24120487|PMID:2522420|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26404900|PMID:26467025|PMID:27234031|PMID:27363342|PMID:28492532|PMID:28688748|PMID:28973083|PMID:29260090|PMID:29382405|PMID:30564623|PMID:31127727|PMID:31395954|PMID:31909476|PMID:32502767|PMID:33199158|PMID:34485198|PMID:7604843|PMID:9492098|PMID:9536098 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:3160581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:22522420|PMID:2522420|PMID:25741868|PMID:28492532 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:10908 hydrocephalus ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:3160581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:630 genetic disease ISO RGD:3160581 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8978811 Crppa CDP-L-ribitol pyrophosphorylase A gene DOID:9008296 Eye Abnormalities ISO RGD:3160581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22522421 8978825 Naa30 N-alpha-acetyltransferase 30, NatC catalytic subunit gene DOID:630 genetic disease ISO RGD:1346528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978832 Synj2bp synaptojanin 2 binding protein gene DOID:630 genetic disease ISO RGD:736800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978840 Fhdc1 FH2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1604560 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:10283 prostate cancer ISO RGD:1352010 D RGD:9068941 20200609 RGD PMID:16648554|REF_RGD_ID:2293560 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:1612 breast cancer disease_progression ISO RGD:1352010 D RGD:9068941 20200609 RGD PMID:18236071|REF_RGD_ID:2293557 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:1909 melanoma ISO RGD:1352010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21559390 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:70486 D RGD:9068941 20200609 RGD PMID:17893107|REF_RGD_ID:2293563 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1352010 D RGD:9068941 20200609 RGD PMID:16740772|REF_RGD_ID:2293561 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29464035 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:630 genetic disease ISO RGD:1352010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70486 D RGD:9068941 20200609 RGD PMID:16534847|REF_RGD_ID:2289284 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352010 D RGD:9068941 20200609 RGD DNA, mRNA:amplification, increased expression:ovary PMID:9426687|REF_RGD_ID:2298989 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1352010 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:11585414|REF_RGD_ID:2298988 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352010 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:18299147|REF_RGD_ID:2296067 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:1352010 D RGD:9068941 20200609 RGD PMID:9673386|REF_RGD_ID:2298990 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:9004994 Embryo Loss ISO RGD:1352010 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70501 D RGD:9068941 20200609 RGD PMID:16924466|REF_RGD_ID:2293558 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:70501 D RGD:9068941 20200609 RGD PMID:8104336|REF_RGD_ID:10448975 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1352010 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33727089 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:9007479 Habitual Abortions ISO RGD:1352010 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038060 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1352010 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17483252|REF_RGD_ID:2289230 8978867 Cdk2 cyclin dependent kinase 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:70486 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16723461|REF_RGD_ID:2293567 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:0050700 cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25016126|PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:0060224 atrial fibrillation ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:23861362|PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:0060319 cardiac arrest ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:23861362|PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:0110218 Brugada syndrome 1 ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:23861362|PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:0110644 long QT syndrome 1 ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:0110645 long QT syndrome 2 ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:23861362|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:0110652 long QT syndrome 11 ISO RGD:1349720 D RGD:7240710 20180130 OMIM 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:0110652 long QT syndrome 11 ISO RGD:1349720 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: AKAP9-related condition | ClinVar Annotator: match by term: Long QT syndrome 11 PMID:17576681|PMID:18093912|PMID:22378279|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24467814|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26704558|PMID:27707468|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29247119|PMID:29350269|PMID:29574703|PMID:29641532|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30847666|PMID:31418098|PMID:31534214|PMID:31785789|PMID:31847883|PMID:33084842|PMID:33789662|PMID:34011629|PMID:9536098 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:12930 dilated cardiomyopathy ISO RGD:1349720 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31418098 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:16199547|PMID:17576681|PMID:18093912|PMID:23861362|PMID:24033266|PMID:24123366|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26230511|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27707468|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:29247119|PMID:29574703|PMID:30276209|PMID:30821013|PMID:30847666|PMID:31534214|PMID:32233023|PMID:33084842|PMID:9536098 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18093912|PMID:22378279|PMID:22584458|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24123366|PMID:24467814|PMID:24981977|PMID:25016126|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27332903|PMID:27707468|PMID:28003625|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29511324|PMID:29574703|PMID:29641532|PMID:29688227|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31418098|PMID:31534214|PMID:31654968|PMID:31847883|PMID:32233023|PMID:33084842|PMID:33232181|PMID:33789662|PMID:34011629|PMID:34088380|PMID:9536098 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:2843 long QT syndrome ISO RGD:1349720 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17576681|PMID:18093912|PMID:22378279|PMID:22584458|PMID:23174487|PMID:23861362|PMID:24033266|PMID:24123366|PMID:24467814|PMID:24981977|PMID:25016126|PMID:25172201|PMID:25363768|PMID:25467552|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26189708|PMID:26220970|PMID:26230511|PMID:26272908|PMID:26350513|PMID:26580448|PMID:26671970|PMID:26704558|PMID:26743238|PMID:27332903|PMID:27707468|PMID:28003625|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28666525|PMID:28714951|PMID:28750076|PMID:28986455|PMID:29181379|PMID:29247119|PMID:29350269|PMID:29511324|PMID:29574703|PMID:29641532|PMID:29688227|PMID:30276209|PMID:30471092|PMID:30615648|PMID:30821013|PMID:30847666|PMID:30975432|PMID:31418098|PMID:31534214|PMID:31654968|PMID:31785789|PMID:31847883|PMID:32233023|PMID:32508047|PMID:33084842|PMID:33232181|PMID:33789662|PMID:34011629|PMID:34088380|PMID:35932045|PMID:9536098 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:37 skin disease ISO RGD:1349720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1349720 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:22584458|PMID:28492532|PMID:32233023 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:397 restrictive cardiomyopathy ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:6000 congestive heart failure ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart failure PMID:23861362|PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:630 genetic disease ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23861362|PMID:25741868|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1349720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:24123366|PMID:25467552|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26743238|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29574703|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23861362|PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:9007964 Arsenic Poisoning ISO RGD:1349720 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:9120 amyloidosis ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:23861362|PMID:25741868|PMID:28492532 8978905 Akap9 A-kinase anchoring protein 9 gene DOID:9256 colorectal cancer ISO RGD:1349720 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0050716 methylmalonic aciduria and homocystinuria type cblD ISO RGD:1602635 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32214227|PMID:32404165|PMID:34580403|PMID:9536098 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1602635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29410950|PMID:32214227|PMID:9536098 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32214227|PMID:32404165|PMID:34580403|PMID:9536098 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060267 pontocerebellar hypoplasia type 2A ISO RGD:1602635 D RGD:7240710 20180130 OMIM 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060267 pontocerebellar hypoplasia type 2A ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2A | ClinVar Annotator: match by term: VOLENDAM NEURODEGENERATIVE DISEASE PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32404165|PMID:34580403 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060273 pontocerebellar hypoplasia type 4 ISO RGD:1602635 D RGD:7240710 20180221 OMIM 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060273 pontocerebellar hypoplasia type 4 ISO RGD:1602635 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Encephalopathy fatal infantile with olivopontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 4 PMID:16470708|PMID:17576681|PMID:17641900|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29302074|PMID:29410950|PMID:30315573|PMID:32404165|PMID:34580403|PMID:9536098 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060274 pontocerebellar hypoplasia type 5 ISO RGD:1602635 D RGD:7240710 20180822 OMIM 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0060274 pontocerebellar hypoplasia type 5 ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia fetal-onset | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 5 PMID:16470708|PMID:17641900|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:0112328 pontocerebellar hypoplasia type 2 ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2 PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:10376 amblyopia ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Amblyopia PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:1059 intellectual disability ISO RGD:1602635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:1059 intellectual disability ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:10907 microcephaly ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:14784 olivopontocerebellar atrophy ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:480 movement disease ISO RGD:1602635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:630 genetic disease ISO RGD:1602635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950|PMID:9536098 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:9000123 Deglutition Disorders ISO RGD:1602635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:9000343 Vision Disorders ISO RGD:1602635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:9006534 Nervous System Malformations ISO RGD:1602635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8978965 Tsen54 tRNA splicing endonuclease subunit 54 gene DOID:9008086 Developmental Disabilities ISO RGD:1602635 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950 8979000 Fbxl18 F-box and leucine rich repeat protein 18 gene DOID:630 genetic disease ISO RGD:1352891 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979000 Fbxl18 F-box and leucine rich repeat protein 18 gene DOID:684 hepatocellular carcinoma ISO RGD:1352891 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:735430 D RGD:7240710 20230809 OMIM 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:735430 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Chronic multifocal osteomyelitis 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:735430 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:735430 D RGD:9068941 20200618 RGD protein:increased expression:serum: PMID:32416070|REF_RGD_ID:30296676 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 ISO RGD:735430 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:0080600 COVID-19 severity ISO RGD:735430 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:0080685 aortic dissection ISO RGD:735430 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:10964 cholesteatoma of middle ear ISO RGD:735430 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:8737779|REF_RGD_ID:8662931 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:11121 pulpitis ISO RGD:2892 D RGD:9068941 20200609 RGD protein:increased expression:dental pulp,trigeminal ganglion: PMID:19732182|REF_RGD_ID:8662895 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:1205 allergic disease ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:289 endometriosis ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:2921 glomerulonephritis ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:17500042|REF_RGD_ID:7207036 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:735430 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:37 skin disease ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:418 systemic scleroderma ISO RGD:735430 D RGD:9068941 20200609 RGD PMID:1375465|REF_RGD_ID:8662902 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:552 pneumonia ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:630 genetic disease ISO RGD:735430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2892 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord PMID:16456668|REF_RGD_ID:7207035 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:17901159|REF_RGD_ID:2311107 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9000998 Brain Injuries ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:2892 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nerve PMID:11311987|REF_RGD_ID:5037239 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9002211 Hyperalgesia ISO RGD:2892 D RGD:9068941 20200609 RGD PMID:19022353|REF_RGD_ID:8662898 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9002211 Hyperalgesia ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:11585580|REF_RGD_ID:8662903 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9003321 Bacterial Keratitis ISO RGD:735431 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735430 D RGD:9068941 20200609 RGD PMID:18637763|REF_RGD_ID:5037238 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9003730 Chemical Burns ISO RGD:735430 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:16797208|REF_RGD_ID:5037237 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9007599 Ocular Onchocerciasis ISO RGD:735431 D RGD:9068941 20200609 RGD PMID:19168746|REF_RGD_ID:8662882 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735430 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:11197691|REF_RGD_ID:2311106 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735430 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:8911996|REF_RGD_ID:6892703 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735431 D RGD:9068941 20200609 RGD protein:decreased expression:pancreatic islet PMID:7835294|REF_RGD_ID:2311068 8979015 Il1r1 interleukin 1 receptor type 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735431 D RGD:9068941 20220825 MouseDO OMIM:222100 8979025 Pdcd1 programmed cell death 1 gene DOID:0040083 Chlamydia pneumonia ISO RGD:1323232 D RGD:9068941 20210219 RGD mRNA:increased expression:lung PMID:26378990|REF_RGD_ID:41412180 8979025 Pdcd1 programmed cell death 1 gene DOID:0040084 Streptococcus pneumonia treatment ISO RGD:1323232 D RGD:9068941 20201120 RGD PMID:25624454|REF_RGD_ID:40818422 8979025 Pdcd1 programmed cell death 1 gene DOID:0060081 triple-receptor negative breast cancer treatment ISO RGD:1323232 D RGD:9068941 20201117 RGD PMID:32194569|REF_RGD_ID:40818259 8979025 Pdcd1 programmed cell death 1 gene DOID:0080159 cryptococcal meningitis treatment ISO RGD:1323231 D RGD:9068941 20210219 RGD PMID:29058791|REF_RGD_ID:41412178 8979025 Pdcd1 programmed cell death 1 gene DOID:0080159 cryptococcal meningitis treatment ISO RGD:1323232 D RGD:9068941 20210219 RGD PMID:29058791|REF_RGD_ID:41412178 8979025 Pdcd1 programmed cell death 1 gene DOID:0080162 lupus nephritis ISO RGD:1323231 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:15934088|REF_RGD_ID:7248675 8979025 Pdcd1 programmed cell death 1 gene DOID:0080162 lupus nephritis ISO RGD:1323231 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:6867 C>T (human) PMID:15352422|REF_RGD_ID:7248676 8979025 Pdcd1 programmed cell death 1 gene DOID:0080162 lupus nephritis onset ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:21041733|REF_RGD_ID:7248678 8979025 Pdcd1 programmed cell death 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1323231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8979025 Pdcd1 programmed cell death 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1323231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8979025 Pdcd1 programmed cell death 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1323231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8979025 Pdcd1 programmed cell death 1 gene DOID:10534 stomach cancer ISO RGD:1323231 D RGD:9068941 20210212 RGD associated with Epstein-Barr Virus Infections PMID:27465786|REF_RGD_ID:41410790 8979025 Pdcd1 programmed cell death 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1323231 D RGD:9068941 20201113 RGD PMID:32380498|REF_RGD_ID:40818238 8979025 Pdcd1 programmed cell death 1 gene DOID:1059 intellectual disability ISO RGD:1323231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8979025 Pdcd1 programmed cell death 1 gene DOID:10591 pre-eclampsia ISO RGD:1323231 D RGD:9068941 20201203 RGD protein:increased expression:Treg cell PMID:27277012|REF_RGD_ID:40886269 8979025 Pdcd1 programmed cell death 1 gene DOID:10591 pre-eclampsia treatment ISO RGD:1311658 D RGD:9068941 20201203 RGD PMID:27277012|REF_RGD_ID:40886269 8979025 Pdcd1 programmed cell death 1 gene DOID:11111 hydronephrosis ISO RGD:1332447 D RGD:9068941 20200609 RGD PMID:16352741|REF_RGD_ID:7248681 8979025 Pdcd1 programmed cell death 1 gene DOID:11168 anogenital venereal wart ISO RGD:1323231 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 8979025 Pdcd1 programmed cell death 1 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1323232 D RGD:9068941 20210219 RGD PMID:23230000|REF_RGD_ID:41410802 8979025 Pdcd1 programmed cell death 1 gene DOID:12155 lymphocytic choriomeningitis treatment ISO RGD:1323232 D RGD:9068941 20201112 RGD PMID:30726291|REF_RGD_ID:40818232 8979025 Pdcd1 programmed cell death 1 gene DOID:12361 Graves' disease ISO RGD:1323231 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 8979025 Pdcd1 programmed cell death 1 gene DOID:12549 hepatitis A disease_progression ISO RGD:1323231 D RGD:9068941 20201203 RGD PMID:26347518|REF_RGD_ID:40818419 8979025 Pdcd1 programmed cell death 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1323231 D RGD:9068941 20201112 RGD protein:increased expression: CD8 Tcell from nasal wash: PMID:25465101|REF_RGD_ID:11056952 8979025 Pdcd1 programmed cell death 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1323232 D RGD:9068941 20201112 RGD protein:increased expression:CD4 Tcell, CD8 Tcell from lung: PMID:25465101|REF_RGD_ID:11056952 8979025 Pdcd1 programmed cell death 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:14595408|REF_RGD_ID:9589058 8979025 Pdcd1 programmed cell death 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1323232 D RGD:9068941 20220825 MouseDO 8979025 Pdcd1 programmed cell death 1 gene DOID:14115 toxic shock syndrome ISO RGD:1323231 D RGD:9068941 20201203 RGD protein:increased expression:serum PMID:29702526|REF_RGD_ID:40822808 8979025 Pdcd1 programmed cell death 1 gene DOID:14115 toxic shock syndrome severity ISO RGD:1323231 D RGD:9068941 20210212 RGD protein:increased expression:lymphocyte, mononcyte PMID:26063974|REF_RGD_ID:41410786 8979025 Pdcd1 programmed cell death 1 gene DOID:1679 cystitis ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:22432050|REF_RGD_ID:7248677 8979025 Pdcd1 programmed cell death 1 gene DOID:1731 histoplasmosis treatment ISO RGD:1323232 D RGD:9068941 20201203 RGD PMID:18268348|REF_RGD_ID:40822806 8979025 Pdcd1 programmed cell death 1 gene DOID:1883 hepatitis C disease_progression ISO RGD:1323231 D RGD:9068941 20201112 RGD DNA:SNP:3' UTR:rs10204525(human) PMID:25747035|REF_RGD_ID:11052797 8979025 Pdcd1 programmed cell death 1 gene DOID:1909 melanoma ISO RGD:1323231 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21802280 8979025 Pdcd1 programmed cell death 1 gene DOID:1909 melanoma treatment ISO RGD:1323232 D RGD:9068941 20201117 RGD associated with influenza PMID:27760326|REF_RGD_ID:40818261 8979025 Pdcd1 programmed cell death 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:1323231 D RGD:9068941 20201117 RGD PMID:31770816|REF_RGD_ID:40818272 8979025 Pdcd1 programmed cell death 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:1323231 D RGD:9068941 20201120 RGD DNA:SNPs,halptype: :rs36084323, rs2227981,rs2227982(human) PMID:28667037|REF_RGD_ID:40818414 8979025 Pdcd1 programmed cell death 1 gene DOID:2043 hepatitis B susceptibility ISO RGD:1323231 D RGD:9068941 20201203 RGD DNA:SNP: :rs2227981(human) PMID:29786123|REF_RGD_ID:40818423 8979025 Pdcd1 programmed cell death 1 gene DOID:2048 autoimmune hepatitis ISO RGD:1323231 D RGD:9068941 20201113 RGD PMID:23869988|REF_RGD_ID:40818236 8979025 Pdcd1 programmed cell death 1 gene DOID:2048 autoimmune hepatitis ISO RGD:1323232 D RGD:9068941 20210219 RGD PMID:19781375|REF_RGD_ID:41412171 8979025 Pdcd1 programmed cell death 1 gene DOID:2237 hepatitis ISO RGD:1323231 D RGD:9068941 20201203 RGD protein:increased expression: leukocyte PMID:19739236|REF_RGD_ID:40818425 8979025 Pdcd1 programmed cell death 1 gene DOID:2377 multiple sclerosis ISO RGD:1323231 D RGD:7240710 20240320 OMIM 8979025 Pdcd1 programmed cell death 1 gene DOID:2377 multiple sclerosis ISO RGD:1323231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis modifier of disease progression PMID:12402038|PMID:15912506 8979025 Pdcd1 programmed cell death 1 gene DOID:2841 asthma treatment ISO RGD:1323232 D RGD:9068941 20210219 RGD associated with Chlamydia pneumonia PMID:26378990|REF_RGD_ID:41412180 8979025 Pdcd1 programmed cell death 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1323231 D RGD:9068941 20201120 RGD protein:increased expression:Tcell, B cell, monocyte PMID:23661793|REF_RGD_ID:40818418 8979025 Pdcd1 programmed cell death 1 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:1323231 D RGD:9068941 20201120 RGD PMID:23661793|REF_RGD_ID:40818418 8979025 Pdcd1 programmed cell death 1 gene DOID:3951 acute myocarditis severity ISO RGD:1323232 D RGD:9068941 20201203 RGD associated with Coxsackievirus Infections; PMID:17434153|REF_RGD_ID:40822819 8979025 Pdcd1 programmed cell death 1 gene DOID:3951 acute myocarditis treatment ISO RGD:1323232 D RGD:9068941 20201203 RGD associated with Coxsackievirus Infections; PMID:17434153|REF_RGD_ID:40822819 8979025 Pdcd1 programmed cell death 1 gene DOID:399 tuberculosis treatment ISO RGD:1323231 D RGD:9068941 20210219 RGD PMID:27865385|REF_RGD_ID:41412174 8979025 Pdcd1 programmed cell death 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1323231 D RGD:9068941 20200609 RGD PMID:17363529|REF_RGD_ID:7248680 8979025 Pdcd1 programmed cell death 1 gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:1311658 D RGD:9068941 20200609 RGD PMID:21965585|REF_RGD_ID:7248671 8979025 Pdcd1 programmed cell death 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1323231 D RGD:9068941 20210219 RGD PMID:30161254|REF_RGD_ID:41412179 8979025 Pdcd1 programmed cell death 1 gene DOID:630 genetic disease ISO RGD:1323231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979025 Pdcd1 programmed cell death 1 gene DOID:646 viral encephalitis ISO RGD:1323232 D RGD:9068941 20201113 RGD protein:increased expression: CD8 T celll PMID:31105690|REF_RGD_ID:40818239 8979025 Pdcd1 programmed cell death 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323231 D RGD:9068941 20201117 RGD associated with hepatitis B;DNA:SNP: : +8669 A>G (human) PMID:27034168|REF_RGD_ID:40818257 8979025 Pdcd1 programmed cell death 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1323231 D RGD:9068941 20210219 RGD associated with hepatitis B PMID:21912640|REF_RGD_ID:41410800 8979025 Pdcd1 programmed cell death 1 gene DOID:820 myocarditis ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:21357717|REF_RGD_ID:9589065 8979025 Pdcd1 programmed cell death 1 gene DOID:824 periodontitis ISO RGD:1311658 D RGD:9068941 20201203 RGD protein:increased expression:periodontium PMID:32346701|REF_RGD_ID:40886271 8979025 Pdcd1 programmed cell death 1 gene DOID:8991 cervix uteri carcinoma in situ severity ISO RGD:1323231 D RGD:9068941 20201203 RGD associated with Papillomavirus Infections; protein:increased expression:T cell PMID:23521696|REF_RGD_ID:40822817 8979025 Pdcd1 programmed cell death 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1311658 D RGD:9068941 20201203 RGD PMID:29665726|REF_RGD_ID:40886268 8979025 Pdcd1 programmed cell death 1 gene DOID:9001228 Fungemia ISO RGD:1323232 D RGD:9068941 20201112 RGD protein:increased expression:CD4 Tcell, CD8 Tcell: PMID:23663657|REF_RGD_ID:40818234 8979025 Pdcd1 programmed cell death 1 gene DOID:9001228 Fungemia treatment ISO RGD:1323232 D RGD:9068941 20201112 RGD PMID:23663657|REF_RGD_ID:40818234 8979025 Pdcd1 programmed cell death 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1323231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8979025 Pdcd1 programmed cell death 1 gene DOID:9001953 Pneumovirus Infections treatment ISO RGD:1323232 D RGD:9068941 20201203 RGD associated with reinfection PMID:25339663|REF_RGD_ID:40822811 8979025 Pdcd1 programmed cell death 1 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1323231 D RGD:9068941 20201120 RGD protein:increased expression:CD4 T cell PMID:27792733|REF_RGD_ID:40818413 8979025 Pdcd1 programmed cell death 1 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:1323232 D RGD:9068941 20201203 RGD protein:increased expression:CD4 T cell PMID:27792733|REF_RGD_ID:40818413 8979025 Pdcd1 programmed cell death 1 gene DOID:9002433 Schistosomiasis Japonica severity ISO RGD:1323232 D RGD:9068941 20201203 RGD PMID:27792733|REF_RGD_ID:40818413 8979025 Pdcd1 programmed cell death 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis susceptibility ISO RGD:1323232 D RGD:9068941 20201117 RGD PMID:24648472|REF_RGD_ID:40818258 8979025 Pdcd1 programmed cell death 1 gene DOID:9002780 Recurrent Respiratory Papillomatosis ISO RGD:1323231 D RGD:9068941 20201203 RGD PMID:22322668|REF_RGD_ID:40822813 8979025 Pdcd1 programmed cell death 1 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:19208793|REF_RGD_ID:9589070 8979025 Pdcd1 programmed cell death 1 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:19208793|REF_RGD_ID:9589070 8979025 Pdcd1 programmed cell death 1 gene DOID:9004283 Transplant Rejection ISO RGD:1323232 D RGD:9068941 20200609 RGD PMID:17198268|PMID:17489865|REF_RGD_ID:9589060|REF_RGD_ID:9589063 8979025 Pdcd1 programmed cell death 1 gene DOID:9004283 Transplant Rejection severity ISO RGD:1323231 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocytes, Mononuclear: PMID:21518556|REF_RGD_ID:7248673 8979025 Pdcd1 programmed cell death 1 gene DOID:9004484 Sepsis ISO RGD:1323231 D RGD:9068941 20201112 RGD protein:increased expression:T cell PMID:30595665|REF_RGD_ID:40818235 8979025 Pdcd1 programmed cell death 1 gene DOID:9004484 Sepsis ISO RGD:1323231 D RGD:9068941 20201203 RGD protein:increased expression:B cell,CD4T cell PMID:29661225|REF_RGD_ID:40818424 8979025 Pdcd1 programmed cell death 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1323231 D RGD:9068941 20201203 RGD PMID:29702526|REF_RGD_ID:40822808 8979025 Pdcd1 programmed cell death 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1323231 D RGD:9068941 20210219 RGD protein:increased expression:T cell PMID:27156867|REF_RGD_ID:41412183 8979025 Pdcd1 programmed cell death 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1323232 D RGD:9068941 20201117 RGD PMID:19332785|REF_RGD_ID:40818273 8979025 Pdcd1 programmed cell death 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1323231 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:34166680 8979025 Pdcd1 programmed cell death 1 gene DOID:9006262 Cytomegalovirus Infections susceptibility ISO RGD:1323231 D RGD:9068941 20201127 RGD associated with kidney transplantation; DNA:SNP: :rs11568821(human) PMID:19581275|REF_RGD_ID:40818426 8979025 Pdcd1 programmed cell death 1 gene DOID:9006925 Hepatic Echinococcosis ISO RGD:1323232 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:liver PMID:25907244|REF_RGD_ID:41412175 8979025 Pdcd1 programmed cell death 1 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1323232 D RGD:9068941 20201117 RGD protein:increased expression:CD8 T cell PMID:22797302|REF_RGD_ID:40818270 8979025 Pdcd1 programmed cell death 1 gene DOID:9007730 Burns treatment ISO RGD:1323232 D RGD:9068941 20210212 RGD associated with Pseudomonas Infections PMID:29345058|REF_RGD_ID:41410788 8979025 Pdcd1 programmed cell death 1 gene DOID:9008114 Helicobacter Infections severity ISO RGD:1323231 D RGD:9068941 20201120 RGD PMID:21562113|REF_RGD_ID:40818417 8979025 Pdcd1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323231 D RGD:9068941 20200806 RGD mRNA:increased expression:liver parenchyma (human) PMID:22634051|REF_RGD_ID:36947881 8979025 Pdcd1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323231 D RGD:9068941 20201117 RGD DNA:SNP:exon: PMID:20700634|REF_RGD_ID:40818262 8979025 Pdcd1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323231 D RGD:9068941 20201127 RGD protein:altered expression:serum: PMID:28983583|REF_RGD_ID:40818415 8979025 Pdcd1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1323231 D RGD:9068941 20201112 RGD DNA:SNP:3' UTR:rs10204525(human) PMID:30016557|REF_RGD_ID:40818231 8979025 Pdcd1 programmed cell death 1 gene DOID:9008163 Chronic Hepatitis B no_association ISO RGD:1323231 D RGD:9068941 20201112 RGD DNA:SNPs::+7146 G>A,+7209 C>T(human) PMID:25736598|REF_RGD_ID:40818233 8979025 Pdcd1 programmed cell death 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1311658 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa, lymphocyte PMID:24165459|REF_RGD_ID:9589083 8979025 Pdcd1 programmed cell death 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323231 D RGD:7240710 20240320 OMIM 8979025 Pdcd1 programmed cell death 1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1323232 D RGD:9068941 20210212 RGD PMID:26712908|REF_RGD_ID:41410789 8979025 Pdcd1 programmed cell death 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1323232 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23219834|REF_RGD_ID:7248672 8979037 Actb actin beta gene DOID:0060229 Baraitser-Winter syndrome ISO RGD:735801 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome PMID:10327243|PMID:12325076|PMID:1415343|PMID:16685646|PMID:19252504|PMID:22366783|PMID:23756437|PMID:24033266|PMID:25052316|PMID:25255767|PMID:25741868|PMID:26467025|PMID:26583190|PMID:27862284|PMID:28347698|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29788902|PMID:30315159|PMID:31970217|PMID:32170967|PMID:33446253|PMID:35005077|PMID:9714430 8979037 Actb actin beta gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:628837 D RGD:9068941 20200609 RGD protein:increased carbonylation:liver PMID:25282656|REF_RGD_ID:11541097 8979037 Actb actin beta gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:735801 D RGD:7240710 20180130 OMIM 8979037 Actb actin beta gene DOID:0081112 Baraitser-Winter syndrome 1 ISO RGD:735801 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation PMID:10327243|PMID:10411937|PMID:10928857|PMID:11311002|PMID:12325076|PMID:1415343|PMID:16685646|PMID:17576681|PMID:18414213|PMID:19252504|PMID:22366783|PMID:23649928|PMID:23756437|PMID:24033266|PMID:25052316|PMID:25156961|PMID:25255767|PMID:25640679|PMID:25741868|PMID:25979418|PMID:26275891|PMID:26467025|PMID:26583190|PMID:26713879|PMID:26795593|PMID:27862284|PMID:28347698|PMID:28487785|PMID:28492532|PMID:28849312|PMID:28991257|PMID:29220674|PMID:29261186|PMID:29788902|PMID:30315159|PMID:30733661|PMID:31625567|PMID:31970217|PMID:32170967|PMID:32368696|PMID:32860008|PMID:32901917|PMID:33446253|PMID:35005077|PMID:35182466|PMID:35313204|PMID:35401677|PMID:9536098|PMID:9714430 8979037 Actb actin beta gene DOID:10003 sensorineural hearing loss ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685646 8979037 Actb actin beta gene DOID:1059 intellectual disability ISO RGD:735801 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25052316|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29220674|PMID:30733661|PMID:31625567 8979037 Actb actin beta gene DOID:10881 hand, foot and mouth disease ISO RGD:735801 D RGD:9068941 20200806 RGD protein:increased expression:serum PMID:30817906|REF_RGD_ID:36947391 8979037 Actb actin beta gene DOID:12270 coloboma ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 8979037 Actb actin beta gene DOID:1588 thrombocytopenia ISO RGD:735801 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10411937|PMID:25255767|PMID:25741868|PMID:30315159 8979037 Actb actin beta gene DOID:1934 dysostosis ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685646 8979037 Actb actin beta gene DOID:305 carcinoma ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8979037 Actb actin beta gene DOID:3328 temporal lobe epilepsy ISO RGD:628837 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 8979037 Actb actin beta gene DOID:543 dystonia ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685646 8979037 Actb actin beta gene DOID:630 genetic disease ISO RGD:735801 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12325076|PMID:16685646|PMID:17576681|PMID:18414213|PMID:22366544|PMID:22366783|PMID:25052316|PMID:25255767|PMID:25741868|PMID:25979418|PMID:26583190|PMID:26713879|PMID:26795593|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:28991257|PMID:29220674|PMID:29261186|PMID:29788902|PMID:30315159|PMID:31970217|PMID:32368696|PMID:32860008|PMID:33446253|PMID:35005077|PMID:35182466|PMID:35313204|PMID:9536098|PMID:9714430 8979037 Actb actin beta gene DOID:684 hepatocellular carcinoma ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:21472284 8979037 Actb actin beta gene DOID:8398 osteoarthritis ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8979037 Actb actin beta gene DOID:9000117 Esophageal Neoplasms ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15986332 8979037 Actb actin beta gene DOID:9000174 Becker Nevus Syndrome ISO RGD:735801 D RGD:7240710 20230816 OMIM 8979037 Actb actin beta gene DOID:9000174 Becker Nevus Syndrome ISO RGD:735801 D RGD:8554872 20230919 ClinVar ClinVar Annotator: match by term: BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC PMID:28347698|PMID:32170967 8979037 Actb actin beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8979037 Actb actin beta gene DOID:9002669 Hypoxia ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 8979037 Actb actin beta gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:735801 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Aminoacylase 1 deficiency PMID:25741868 8979037 Actb actin beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8979037 Actb actin beta gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357 8979037 Actb actin beta gene DOID:9005172 Lung Neoplasms ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23692979 8979037 Actb actin beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8979037 Actb actin beta gene DOID:9006221 smooth muscle hamartoma ISO RGD:735801 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital smooth muscle hamartoma PMID:28347698|PMID:32170967 8979037 Actb actin beta gene DOID:9006534 Nervous System Malformations ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 8979037 Actb actin beta gene DOID:9006720 CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY ISO RGD:735801 D RGD:8554872 20230919 ClinVar ClinVar Annotator: match by term: CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC | ClinVar Annotator: match by term: CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC PMID:25741868|PMID:28347698|PMID:32170967 8979037 Actb actin beta gene DOID:9006985 Juvenile-Onset Dystonia ISO RGD:735801 D RGD:7240710 20180130 OMIM 8979037 Actb actin beta gene DOID:9006985 Juvenile-Onset Dystonia ISO RGD:735801 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Juvenile-onset dystonia PMID:12325076|PMID:16685646|PMID:19252504|PMID:22366783|PMID:24033266|PMID:25255767|PMID:25741868|PMID:26467025|PMID:26583190|PMID:27862284|PMID:28487785|PMID:28492532|PMID:28849312|PMID:29220674|PMID:29788902|PMID:30315159|PMID:31970217|PMID:33446253|PMID:35005077|PMID:9714430 8979037 Actb actin beta gene DOID:9007102 Myocardial Ischemia ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8979037 Actb actin beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:628837 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22563491|REF_RGD_ID:9587759 8979037 Actb actin beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8979037 Actb actin beta gene DOID:9007661 Dwarfism ISO RGD:735801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 8979037 Actb actin beta gene DOID:9007956 Febrile Seizures ISO RGD:628837 D RGD:9068941 20200609 RGD PMID:23237195|REF_RGD_ID:9587751 8979037 Actb actin beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22366783 8979037 Actb actin beta gene DOID:9008767 Thrombocytopenia 8 ISO RGD:735801 D RGD:7240710 20230906 OMIM 8979037 Actb actin beta gene DOID:9008767 Thrombocytopenia 8 ISO RGD:735801 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 8, with dysmorphic features and developmental delay PMID:10411937|PMID:25255767|PMID:28492532|PMID:30315159|PMID:30733661|PMID:35313204 8979047 Plet1 placenta expressed transcript 1 gene DOID:1059 intellectual disability ISO RGD:1343359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8979047 Plet1 placenta expressed transcript 1 gene DOID:630 genetic disease ISO RGD:1343359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979047 Plet1 placenta expressed transcript 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1343359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8979055 Oxld1 oxidoreductase like domain containing 1 gene DOID:630 genetic disease ISO RGD:2290031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979113 Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1317154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8979113 Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1317154 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8979113 Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1317154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8979113 Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1317154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8979113 Gga1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 gene DOID:630 genetic disease ISO RGD:1317154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979154 Zfp2 ZFP2 zinc finger protein gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8979154 Zfp2 ZFP2 zinc finger protein gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8979154 Zfp2 ZFP2 zinc finger protein gene DOID:14748 Sotos syndrome ISO RGD:1604799 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8979154 Zfp2 ZFP2 zinc finger protein gene DOID:630 genetic disease ISO RGD:1604799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:0050650 familial atrial fibrillation ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:0050823 third-degree atrioventricular block ISO RGD:731065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block PMID:28492532 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:0050989 episodic ataxia type 1 ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:21858020|PMID:28492532 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:0060224 atrial fibrillation ISO RGD:731065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19698954 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:0110218 Brugada syndrome 1 ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 PMID:15735608|PMID:16411137|PMID:21306642|PMID:23264583|PMID:23861362|PMID:24068186|PMID:28492532 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:10534 stomach cancer ISO RGD:731065 D RGD:9068941 20200609 RGD protein:increased expression:gastric mucosa (human) PMID:16258262|REF_RGD_ID:9686069 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:10763 hypertension ISO RGD:2953 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:11358947|REF_RGD_ID:1627659 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:114 heart disease ISO RGD:731065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heart disease PMID:22402074|PMID:23264583|PMID:25410959|PMID:25741868|PMID:28492532 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:630 genetic disease ISO RGD:731065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:2953 D RGD:9068941 20200609 RGD PMID:20303989|REF_RGD_ID:7242752 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:731065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27522126 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:731065 D RGD:9068941 20200609 RGD PMID:17596340|REF_RGD_ID:1627651 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:6432 pulmonary hypertension ISO RGD:731065 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, cds PMID:17267549|REF_RGD_ID:1627654 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9001275 Familial Atrial Fibrillation 7 ISO RGD:731065 D RGD:7240710 20180130 OMIM 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9001275 Familial Atrial Fibrillation 7 ISO RGD:731065 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 | ClinVar Annotator: match by term: KCNA5-related condition | ClinVar Annotator: match by term: altered potassium channel function PMID:15735608|PMID:16025157|PMID:16411137|PMID:16772329|PMID:17266934|PMID:17872968|PMID:18209767|PMID:19029374|PMID:19343045|PMID:19443837|PMID:20018952|PMID:20646426|PMID:21306642|PMID:21685056|PMID:22402074|PMID:23264583|PMID:23861362|PMID:24033266|PMID:24068186|PMID:24144883|PMID:24936649|PMID:24950668|PMID:25076992|PMID:25410959|PMID:25741868|PMID:26129877|PMID:26220970|PMID:26383259|PMID:26801773|PMID:28492532|PMID:28803858|PMID:29034891|PMID:29247119|PMID:29743074|PMID:31727138|PMID:32508047|PMID:32721895|PMID:33789662|PMID:34088380|PMID:34570182 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731065 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:23861362|PMID:25741868|PMID:28492532 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:2953 D RGD:9068941 20200609 RGD PMID:15306225|REF_RGD_ID:7242784 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9002554 Tachycardia ISO RGD:2953 D RGD:9068941 20200609 RGD PMID:15876811|REF_RGD_ID:7242768 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2953 D RGD:9068941 20200609 RGD PMID:17982915|REF_RGD_ID:7242761 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:731065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8979162 Kcna5 potassium voltage-gated channel subfamily A member 5 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:731065 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:20018952|PMID:21685056|PMID:23861362|PMID:24068186|PMID:25076992|PMID:25741868|PMID:28492532 8979168 Tomm7 translocase of outer mitochondrial membrane 7 gene DOID:0060793 hypomyelinating leukodystrophy 5 ISO RGD:1317904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 8979168 Tomm7 translocase of outer mitochondrial membrane 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8979168 Tomm7 translocase of outer mitochondrial membrane 7 gene DOID:630 genetic disease ISO RGD:1317904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979168 Tomm7 translocase of outer mitochondrial membrane 7 gene DOID:9006943 GARG-MISHRA PROGEROID SYNDROME ISO RGD:1317904 D RGD:7240710 20240131 OMIM 8979168 Tomm7 translocase of outer mitochondrial membrane 7 gene DOID:9006943 GARG-MISHRA PROGEROID SYNDROME ISO RGD:1317904 D RGD:8554872 20240130 ClinVar ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome PMID:36282599|PMID:36299998 8979168 Tomm7 translocase of outer mitochondrial membrane 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317904 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18022865|PMID:20513915|PMID:21911699|PMID:22184204|PMID:22749724|PMID:23998934|PMID:28492532 8979178 Dstn destrin, actin depolymerizing factor gene DOID:6000 congestive heart failure ISO RGD:1312065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8979178 Dstn destrin, actin depolymerizing factor gene DOID:630 genetic disease ISO RGD:1312065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979178 Dstn destrin, actin depolymerizing factor gene DOID:9000955 Acute Otitis Media IEP D RGD:11553828|PMID:26711468 20161013 RGD mRNA, protein:increased expression:mucosa of middle ear 8979178 Dstn destrin, actin depolymerizing factor gene DOID:9006205 Animal Disease Models ISO RGD:1312065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8979178 Dstn destrin, actin depolymerizing factor gene DOID:9007174 Ventricular Remodeling ISO RGD:1312065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:23946963|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29446767|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27626068|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0050902 medulloblastoma ISO RGD:1352691 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29446767|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0060075 estrogen-receptor positive breast cancer treatment ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutations:plasma: PMID:28881720|REF_RGD_ID:14402408 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0060586 Noonan syndrome 8 ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:25741868|PMID:26619011|PMID:27631024 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:15930273|PMID:17376864|PMID:18829572|PMID:19366826|PMID:21824802|PMID:22120714|PMID:22228622|PMID:22729224|PMID:22949682|PMID:24033266|PMID:24497998|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:15930273|PMID:19366826|PMID:21824802|PMID:22228622|PMID:22729224|PMID:24033266|PMID:24497998|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome PMID:15930273|PMID:19366826|PMID:21824802|PMID:22228622|PMID:22729224|PMID:24033266|PMID:24497998|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30063105|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23246288|PMID:24033266|PMID:24497998|PMID:24559322|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Multiple hamartoma syndrome | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23754335|PMID:23946963|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24559322|PMID:24728327|PMID:24782230|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29446767|PMID:29549527|PMID:29758562|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080199 colorectal carcinoma severity ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:17546593|REF_RGD_ID:14402406 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1352691 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:15930273|PMID:17376864|PMID:18074223|PMID:19366826|PMID:22120714|PMID:22658544|PMID:22949682|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:29446767|PMID:34008892 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080322 polycystic kidney disease ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:25741868 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080351 CLOVES syndrome ISO RGD:1352691 D RGD:7240710 20180130 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0080351 CLOVES syndrome ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0081001 Cowden syndrome 5 ISO RGD:1352691 D RGD:7240710 20180130 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0081001 Cowden syndrome 5 ISO RGD:1352691 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cowden syndrome 5 PMID:17376864|PMID:19366826|PMID:21824802|PMID:22228622|PMID:22729222|PMID:22729224|PMID:22949682|PMID:23246288|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:30197175|PMID:30231930|PMID:31568861|PMID:32595695|PMID:33077954|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0081284 rosette-forming glioneuronal tumor ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729223 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:620916 D RGD:9068941 20200609 RGD protein:increased expression:cholangiocyte PMID:24498161|REF_RGD_ID:10040950 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0111162 epidermal nevus ISO RGD:1352691 D RGD:7240710 20180130 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0111162 epidermal nevus ISO RGD:1352691 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22729224|PMID:24033266|PMID:24265155|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0111529 familial multiple nevi flammei ISO RGD:1352691 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Capillary malformations, congenital PMID:15930273|PMID:17376864|PMID:18074223|PMID:22120714|PMID:22658544|PMID:22949682|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:29446767|PMID:32778138|PMID:34008892 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:0111546 Currarino syndrome ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10283 prostate cancer ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:18676830|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20453058|PMID:20619739|PMID:22162582|PMID:22162589|PMID:22271473|PMID:25157968|PMID:25741868|PMID:26619011 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10480 diaphragmatic eventration ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphragmatic eventration PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer ISO RGD:1352691 D RGD:7240710 20220209 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stomach cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer disease_progression ISO RGD:1352691 D RGD:9068941 20201112 RGD Epstein-Barr Virus negative patient PMID:26980034|REF_RGD_ID:40818111 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer disease_progression ISO RGD:1352691 D RGD:9068941 20201112 RGD associated with Epstein-Barr Virus Infections; DNA,protein:mutations:exon: PMID:30952761|REF_RGD_ID:40818110 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:10534 stomach cancer disease_progression ISO RGD:1352691 D RGD:9068941 20210430 RGD protein:increased expression:stomach (human) PMID:30747208|REF_RGD_ID:126790641 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:11054 urinary bladder cancer ISO RGD:1352691 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1107 esophageal carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1115 sarcoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23888070|PMID:23946963|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:11934 head and neck cancer ISO RGD:1352691 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:23408298|PMID:25157968|PMID:26619011 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1324 lung cancer ISO RGD:1352691 D RGD:7240710 20240124 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1324 lung cancer ISO RGD:1352691 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:19366826|PMID:25157968|PMID:25741868|PMID:26619011 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:14250 Down syndrome ISO RGD:1352691 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Down syndrome PMID:25741868 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:14566 disease of cellular proliferation ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1520 colon carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:7240710 20180711 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1612 breast cancer ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29446767|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1749 squamous cell carcinoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24224046 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1909 melanoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1909 melanoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1909 melanoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma | ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:1984 rectal benign neoplasm susceptibility ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs7651265) (human) PMID:20622004|REF_RGD_ID:5685669 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:234 colon adenocarcinoma ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutation PMID:17575153|REF_RGD_ID:5685670 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2394 ovarian cancer ISO RGD:1352691 D RGD:7240710 20190213 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2513 basal cell carcinoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26950094 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2526 prostate adenocarcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate | ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2671 transitional cell carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29549527|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2752 glycogen storage disease II ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:15016963|PMID:21266528|PMID:23334666 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2871 endometrial carcinoma ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome PMID:18829572|PMID:22228622|PMID:22729224|PMID:22949682|PMID:23246288|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26619011|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:30231930|PMID:32595695|PMID:33077954 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:299 adenocarcinoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22484628 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3068 glioblastoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3070 high grade glioma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3070 high grade glioma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brainstem glioma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3121 gallbladder cancer ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23888070|PMID:23946963|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3149 keratoacanthoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratoacanthoma PMID:22949682|PMID:23246288|PMID:25741868|PMID:26619011|PMID:27283355|PMID:28151489|PMID:28492532 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3450 cutaneous Paget's disease severity ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:22522847|REF_RGD_ID:14402410 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3458 breast adenocarcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29446767|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3459 breast carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carcinoma of breast PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3571 liver cancer susceptibility ISO RGD:1551142 D RGD:9068941 20200609 RGD PMID:20583210|REF_RGD_ID:14402407 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:363 uterine cancer ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3717 gastric adenocarcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3905 lung carcinoma ISO RGD:1352691 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:17376864|PMID:18676830|PMID:18725974|PMID:19366826|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3907 lung squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29549527|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3910 lung adenocarcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29549527|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:3948 adrenocortical carcinoma ISO RGD:1352691 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29446767|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4450 renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4465 papillary renal cell carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4511 breast angiosarcoma ISO RGD:1352691 D RGD:9068941 20220310 RGD DNA:mutation:multiple (human) PMID:32123305|REF_RGD_ID:151665102 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4914 esophagus adenocarcinoma ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:4948 gallbladder carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of gallbladder PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:32778138|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5041 esophageal cancer ISO RGD:1352691 D RGD:9068941 20220630 RGD protein:increased expression:esophagus (human) PMID:27188433|REF_RGD_ID:152995510 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5409 lung small cell carcinoma ISO RGD:1352691 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5409 lung small cell carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5411 lung oat cell carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29661094|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29549527|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6171 uterine carcinosarcoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15930273|PMID:17376864|PMID:20952405|PMID:22209294|PMID:22729224|PMID:24265155|PMID:24497998|PMID:25741868|PMID:26351730|PMID:26619011|PMID:27631024|PMID:28492532|PMID:28941273|PMID:29549527 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6457 Cowden syndrome ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16199547|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17576681|PMID:18074223|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20581867|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22430209|PMID:22658544|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23754335|PMID:23946963|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24559322|PMID:24728327|PMID:24782230|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25915946|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26749308|PMID:26851524|PMID:27283355|PMID:27631024|PMID:28151489|PMID:28475857|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29446767|PMID:29549527|PMID:29758562|PMID:30063105|PMID:30231930|PMID:31536475|PMID:31568861|PMID:31775759|PMID:31780696|PMID:32595695|PMID:32778138|PMID:33077954|PMID:34008892|PMID:34402524|PMID:34496175|PMID:34854542|PMID:37712948|PMID:9536098 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6498 seborrheic keratosis ISO RGD:1352691 D RGD:7240710 20180130 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6498 seborrheic keratosis ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:6536 plasma cell neoplasm ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352691 D RGD:7240710 20180130 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma no_association ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutation:exon: PMID:16331247|REF_RGD_ID:14402405 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma severity ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:mutations:exons: PMID:24673525|REF_RGD_ID:14402404 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1352691 D RGD:9068941 20200609 RGD DNA:SNPs: :rs17849071,rs17849079(human) PMID:26823876|REF_RGD_ID:11556371 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:684 hepatocellular carcinoma treatment ISO RGD:620916 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:769 neuroblastoma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:8923 skin melanoma ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:8923 skin melanoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352691 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms PMID:25550888|REF_RGD_ID:13432030 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000217 Stomach Neoplasms ISO RGD:1352691 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:17376864|PMID:21824802|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000918 Disease Progression ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29106415 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29106415 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352691 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations:: PMID:23302486|REF_RGD_ID:14402409 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the cerebrum PMID:19366826|PMID:22228622|PMID:22729224|PMID:22949682|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28151489|PMID:28492532|PMID:28502725|PMID:28941273|PMID:30231930|PMID:32595695|PMID:33077954 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001282 Cerebral Cavernous Malformation 4 ISO RGD:1352691 D RGD:7240710 20220629 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001282 Cerebral Cavernous Malformation 4 ISO RGD:1352691 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 4 PMID:25741868 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31025080 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002221 Hyperplasia ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729222 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002221 Hyperplasia ISO RGD:1551142 D RGD:9068941 20200609 RGD PMID:22214849|REF_RGD_ID:13207413 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002304 Prostatic Neoplasms ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:29610475 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002403 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729224 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:1352691 D RGD:7240710 20180130 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21266528|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23754335|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24459181|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26749308|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27191687|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28191889|PMID:28425981|PMID:28492532|PMID:28502725|PMID:28941273|PMID:29446767|PMID:29549527|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30231930|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32595695|PMID:32733937|PMID:32778138|PMID:33077954|PMID:34008892|PMID:34170046|PMID:34402524|PMID:34496175|PMID:34733958|PMID:34854542|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22228622|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25326635|PMID:25326637|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28502725|PMID:29446767|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30231930|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32595695|PMID:33077954|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9002762 Ovarian Neoplasms ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:18829572|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:33077954|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003133 Hypertelorism ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003191 Vascular Malformations ISO RGD:1551142 D RGD:9068941 20200609 RGD DNA:missense mutation:exon 20:p.H1047R (mouse) PMID:25958091|REF_RGD_ID:13207411 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003196 Penile Neoplasms ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355852 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix | ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003571 Paraproteinemias ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9003816 Macrocephaly ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megalencephaly, autosomal dominant PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:31568861 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9004547 Thyroid Neoplasms ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:15930273|PMID:17376864|PMID:22120714|PMID:22949682|PMID:23246288|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27283355|PMID:28151489|PMID:28492532 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9004657 Weight Gain ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9005172 Lung Neoplasms ISO RGD:1352691 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:32778138|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006085 Megalodactyly ISO RGD:1352691 D RGD:7240710 20200304 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006085 Megalodactyly ISO RGD:1352691 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Macrodactyly PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Head and Neck Neoplasms PMID:15016963|PMID:15254419|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:23408298|PMID:25157968|PMID:26619011 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006257 Growth Disorders ISO RGD:1352691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22729222 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006394 CLAPO Syndrome ISO RGD:1352691 D RGD:7240710 20200923 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006394 CLAPO Syndrome ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29446767|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:1551142 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352691 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:25741868|PMID:28492532 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007096 Stroke ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stroke PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:23946963|PMID:25157968|PMID:25741868|PMID:26619011|PMID:29446767|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007364 Mouth Neoplasms ISO RGD:1352691 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant tumor of floor of mouth PMID:17376864|PMID:21824802|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9007502 Brain Neoplasms ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16906227|PMID:16930767|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22658544|PMID:22729223|PMID:22729224|PMID:23066039|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24559322|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26851524|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:29446767|PMID:29661094|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31775759|PMID:32778138|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008086 Developmental Disabilities ISO RGD:1352691 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008237 Hemimegalencephaly ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Unilateral Megalencephaly PMID:25741868|PMID:28492532 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29549527|PMID:29661094|PMID:29988677|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008797 Facial Asymmetry ISO RGD:1352691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Facial asymmetry PMID:25741868|PMID:28492532 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008939 Breast Neoplasms ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:15930273|PMID:16353168|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18074223|PMID:18371219|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19671852|PMID:19903786|PMID:20177704|PMID:20453058|PMID:20581867|PMID:20593314|PMID:20619739|PMID:21078999|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22120714|PMID:22162582|PMID:22162589|PMID:22209294|PMID:22271473|PMID:22357840|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729223|PMID:22729224|PMID:22949682|PMID:23066039|PMID:23100325|PMID:23246288|PMID:23408298|PMID:23888070|PMID:23946963|PMID:24033266|PMID:24265155|PMID:24497998|PMID:24559322|PMID:24782230|PMID:25157968|PMID:25599672|PMID:25741868|PMID:25880439|PMID:25915946|PMID:26266975|PMID:26266985|PMID:26351730|PMID:26619011|PMID:26627007|PMID:26637981|PMID:26822237|PMID:26851524|PMID:27126994|PMID:27283355|PMID:27626068|PMID:27631024|PMID:28151489|PMID:28425981|PMID:28492532|PMID:28941273|PMID:29446767|PMID:29549527|PMID:29661094|PMID:29758562|PMID:29988677|PMID:30063105|PMID:30376034|PMID:30543347|PMID:31536475|PMID:31568861|PMID:31775759|PMID:32778138|PMID:34008892|PMID:34496175|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:15016963|PMID:15254419|PMID:15520168|PMID:15608678|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:17376864|PMID:17673550|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19223544|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20593314|PMID:20619739|PMID:21430269|PMID:21558396|PMID:21824802|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22370636|PMID:22658544|PMID:22729222|PMID:22729224|PMID:23066039|PMID:23100325|PMID:23946963|PMID:24033266|PMID:24782230|PMID:25157968|PMID:25741868|PMID:26266975|PMID:26266985|PMID:26619011|PMID:26627007|PMID:26822237|PMID:27126994|PMID:27626068|PMID:27631024|PMID:28492532|PMID:29988677|PMID:31536475|PMID:31775759|PMID:34008892|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9008952 Breast Cancer, Familial ISO RGD:1352691 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:17376864|PMID:19366826|PMID:21824802|PMID:22729224|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27631024|PMID:28492532|PMID:37712948 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352691 D RGD:7240710 20200226 OMIM 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352691 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15016963|PMID:15254419|PMID:15520168|PMID:15647370|PMID:15805248|PMID:16906227|PMID:16930767|PMID:18676830|PMID:18725974|PMID:19029981|PMID:19366826|PMID:19513541|PMID:19903786|PMID:20453058|PMID:20619739|PMID:21430269|PMID:22162582|PMID:22162589|PMID:22271473|PMID:22729222|PMID:23946963|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29446767|PMID:34496175 8979187 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene DOID:9538 multiple myeloma ISO RGD:1352691 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:17376864|PMID:18074223|PMID:20581867|PMID:25741868|PMID:26619011|PMID:28492532 8979221 Utp14a UTP14A small subunit processome component gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8979221 Utp14a UTP14A small subunit processome component gene DOID:0060824 syndromic X-linked intellectual disability Raymond type ISO RGD:1347961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:17436253|PMID:24357419|PMID:28492532 8979221 Utp14a UTP14A small subunit processome component gene DOID:12849 autistic disorder ISO RGD:1347961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8979221 Utp14a UTP14A small subunit processome component gene DOID:630 genetic disease ISO RGD:1347961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979251 Ubash3a ubiquitin associated and SH3 domain containing A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1321132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8979251 Ubash3a ubiquitin associated and SH3 domain containing A gene DOID:0110266 cataract 9 multiple types ISO RGD:1321132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8979251 Ubash3a ubiquitin associated and SH3 domain containing A gene DOID:14268 sclerosing cholangitis ISO RGD:1321132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27992413 8979251 Ubash3a ubiquitin associated and SH3 domain containing A gene DOID:630 genetic disease ISO RGD:1321132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979251 Ubash3a ubiquitin associated and SH3 domain containing A gene DOID:891 progressive myoclonus epilepsy ISO RGD:1321132 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8979251 Ubash3a ubiquitin associated and SH3 domain containing A gene DOID:9263 homocystinuria ISO RGD:1321132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8979251 Ubash3a ubiquitin associated and SH3 domain containing A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8979294 Ssr2 signal sequence receptor subunit 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8979294 Ssr2 signal sequence receptor subunit 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 8979294 Ssr2 signal sequence receptor subunit 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8979294 Ssr2 signal sequence receptor subunit 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8979294 Ssr2 signal sequence receptor subunit 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8979294 Ssr2 signal sequence receptor subunit 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8979294 Ssr2 signal sequence receptor subunit 2 gene DOID:5812 MHC class II deficiency ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8979294 Ssr2 signal sequence receptor subunit 2 gene DOID:630 genetic disease ISO RGD:1318091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979294 Ssr2 signal sequence receptor subunit 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8979294 Ssr2 signal sequence receptor subunit 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0060253 scapuloperoneal myopathy ISO RGD:10588 D RGD:9068941 20220825 MouseDO OMIM:181430 | OMIM:300695 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0060825 Christianson syndrome ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1342641 D RGD:7240710 20180130 OMIM 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1342641 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 6 | ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:16199547|PMID:17576681|PMID:18179888|PMID:18179901|PMID:18274675|PMID:19171836|PMID:19181672|PMID:19377476|PMID:19687455|PMID:19716112|PMID:20186852|PMID:20571991|PMID:20633900|PMID:21520333|PMID:21629301|PMID:21683594|PMID:22094483|PMID:22523091|PMID:22923418|PMID:23169582|PMID:23500067|PMID:23965743|PMID:24114807|PMID:24634512|PMID:25191266|PMID:25246303|PMID:25274776|PMID:25741868|PMID:26265627|PMID:26467025|PMID:26627873|PMID:2663542|PMID:26857240|PMID:27409453|PMID:27443559|PMID:27532257|PMID:27841901|PMID:28444561|PMID:28492532|PMID:28611399|PMID:28694073|PMID:29434030|PMID:29661763|PMID:29926425|PMID:31204143|PMID:31273321|PMID:31568572|PMID:31803991|PMID:32001145|PMID:32102154|PMID:32587768|PMID:32815737|PMID:7722535|PMID:9536098 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0080090 reducing body myopathy 1A ISO RGD:1342641 D RGD:7240710 20180130 OMIM 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0080090 reducing body myopathy 1A ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, early-onset, severe PMID:18274675|PMID:19171836|PMID:19181672|PMID:19716112|PMID:20633900|PMID:24634512|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7722535 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25246303|PMID:26857240|PMID:28492532 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:7240710 20180130 OMIM 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset PMID:16919903|PMID:18274675|PMID:18952429|PMID:19171836|PMID:20571991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31273321|PMID:31803991|PMID:32001145 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0080687 reducing body myopathy 1B ISO RGD:1342641 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset PMID:16919903|PMID:18274675|PMID:18952429|PMID:19171836|PMID:19716112|PMID:20571991|PMID:21520333|PMID:23965743|PMID:24634512|PMID:25741868|PMID:26467025|PMID:26627873|PMID:28492532|PMID:31273321|PMID:31803991|PMID:32001145 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1342641 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome ISO RGD:1342641 D RGD:7240710 20200401 OMIM 8979305 Fhl1 four and a half LIM domains 1 gene DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Uruguay Faciocardiomusculoskeletal syndrome PMID:11102932|PMID:19716112|PMID:24634512|PMID:25741868|PMID:26467025|PMID:26933038|PMID:28492532 8979305 Fhl1 four and a half LIM domains 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8979305 Fhl1 four and a half LIM domains 1 gene DOID:12849 autistic disorder ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8979305 Fhl1 four and a half LIM domains 1 gene DOID:630 genetic disease ISO RGD:1342641 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8979305 Fhl1 four and a half LIM domains 1 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8979305 Fhl1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:7240710 20180130 OMIM 8979305 Fhl1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy PMID:18179888|PMID:18179901|PMID:19181672|PMID:21629301|PMID:25274776|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:30260394 8979305 Fhl1 four and a half LIM domains 1 gene DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy ISO RGD:1342641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant | ClinVar Annotator: match by term: X-linked scapuloperoneal muscular dystrophy PMID:18179888|PMID:18179901|PMID:19181672|PMID:19716112|PMID:21629301|PMID:24634512|PMID:25274776|PMID:25741868|PMID:26467025|PMID:26752647|PMID:28492532|PMID:30260394 8979305 Fhl1 four and a half LIM domains 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8979305 Fhl1 four and a half LIM domains 1 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1342641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8979305 Fhl1 four and a half LIM domains 1 gene DOID:9004404 Familial Hemophagocytic Lymphohistiocytoses ISO RGD:1342641 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: RETICULOSIS, FAMILIAL HISTIOCYTIC PMID:19377476|PMID:19687455|PMID:22523091|PMID:25741868|PMID:26467025|PMID:27443559|PMID:27841901|PMID:28492532|PMID:28611399|PMID:29926425 8979305 Fhl1 four and a half LIM domains 1 gene DOID:9005532 Muscle Weakness ISO RGD:1342641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 8979305 Fhl1 four and a half LIM domains 1 gene DOID:9775 diastolic heart failure ISO RGD:1342641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8979326 Rhob ras homolog family member B gene DOID:0080600 COVID-19 ISO RGD:1351195 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8979326 Rhob ras homolog family member B gene DOID:1612 breast cancer severity ISO RGD:1351195 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12237774|REF_RGD_ID:2298874 8979326 Rhob ras homolog family member B gene DOID:1909 melanoma ISO RGD:621309 D RGD:9068941 20200609 RGD PMID:12606940|REF_RGD_ID:704376 8979326 Rhob ras homolog family member B gene DOID:1969 cerebral palsy ISO RGD:1351195 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: RHOB-related disorder PMID:25741868|PMID:32989326 8979326 Rhob ras homolog family member B gene DOID:418 systemic scleroderma ISO RGD:1351195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750679 8979326 Rhob ras homolog family member B gene DOID:4989 pancreatitis ISO RGD:1351195 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Recurrent pancreatitis PMID:25741868|PMID:32989326 8979326 Rhob ras homolog family member B gene DOID:630 genetic disease ISO RGD:1351195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32989326 8979326 Rhob ras homolog family member B gene DOID:9001962 Avian Sarcoma ISO RGD:621309 D RGD:9068941 20200609 RGD PMID:1710770|REF_RGD_ID:704375 8979331 Prr14l proline rich 14 like gene DOID:630 genetic disease ISO RGD:1604500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979349 Rnf123 ring finger protein 123 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8979349 Rnf123 ring finger protein 123 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8979349 Rnf123 ring finger protein 123 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8979349 Rnf123 ring finger protein 123 gene DOID:630 genetic disease ISO RGD:1350672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979349 Rnf123 ring finger protein 123 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1350672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8979398 Aida axin interactor, dorsalization associated gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1603969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8979398 Aida axin interactor, dorsalization associated gene DOID:0080600 COVID-19 ISO RGD:1603969 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8979398 Aida axin interactor, dorsalization associated gene DOID:1540 parathyroid carcinoma ISO RGD:1603969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8979398 Aida axin interactor, dorsalization associated gene DOID:630 genetic disease ISO RGD:1603969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979398 Aida axin interactor, dorsalization associated gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603969 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8979398 Aida axin interactor, dorsalization associated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603969 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8979413 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1316133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8979413 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1316133 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8979413 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:1059 intellectual disability ISO RGD:1316133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8979413 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:12177 common variable immunodeficiency ISO RGD:1316133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8979413 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:2729 dyskeratosis congenita ISO RGD:1316133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8979413 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1316133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8979413 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1316133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8979413 Kctd11 potassium channel tetramerization domain containing 11 gene DOID:630 genetic disease ISO RGD:1316133 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979433 Pde4c phosphodiesterase 4C gene DOID:630 genetic disease ISO RGD:737216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979433 Pde4c phosphodiesterase 4C gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:737216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8979463 Tmem234 transmembrane protein 234 gene DOID:630 genetic disease ISO RGD:1606787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0050453 lissencephaly ISO RGD:1348575 D RGD:9068941 20200609 RGD DNA:insertions, deletions, missense mutations: :multiple PMID:17559086|REF_RGD_ID:11065022 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16575835|PMID:17559086|PMID:17878207|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32860008 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31311558|PMID:32860008 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28097321|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:27066551|PMID:28097321|PMID:28116189|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008|PMID:35606784 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1348575 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26245304|PMID:26467025|PMID:27066551|PMID:27159402|PMID:27193224|PMID:28097321|PMID:28116189|PMID:28492532|PMID:28815891|PMID:29101272|PMID:30426380|PMID:31311558|PMID:31680349|PMID:32860008|PMID:34930662|PMID:35606784 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1348575 D RGD:7240710 20180130 OMIM 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1348575 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26245304|PMID:26467025|PMID:27066551|PMID:27159402|PMID:27193224|PMID:28097321|PMID:28116189|PMID:28492532|PMID:28815891|PMID:29101272|PMID:30426380|PMID:31311558|PMID:31680349|PMID:32860008|PMID:33200426|PMID:34015165|PMID:34930662|PMID:35606784 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1348575 D RGD:9068941 20200609 RGD associated with Muscular Dystrophies PMID:22549409|REF_RGD_ID:11069993 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:26467025|PMID:28182637|PMID:28492532 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1348575 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:16575835|PMID:25741868|PMID:28492532 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1348575 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:12369018|PMID:14678799|PMID:15522202|PMID:15637732|PMID:15733261|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16698797|PMID:17559086|PMID:17878207|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:27193224|PMID:28097321|PMID:28157257|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32528171|PMID:32860008|PMID:34930662|PMID:35046417 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1348575 D RGD:7240710 20180130 OMIM 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1348575 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15522202|PMID:15637732|PMID:15733261|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16698797|PMID:16717220|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:18414213|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19222032|PMID:19299310|PMID:19519795|PMID:19763152|PMID:20065251|PMID:20307669|PMID:20816175|PMID:21102627|PMID:22323514|PMID:22406018|PMID:22499106|PMID:22522420|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25267602|PMID:25326635|PMID:25741868|PMID:25898921|PMID:26245304|PMID:26467025|PMID:27066551|PMID:27159402|PMID:27193224|PMID:27363342|PMID:27884173|PMID:28097321|PMID:28116189|PMID:28157257|PMID:28182637|PMID:28403181|PMID:28492532|PMID:28556411|PMID:28815891|PMID:29101272|PMID:30060766|PMID:30426380|PMID:31311558|PMID:31680349|PMID:32528171|PMID:32860008|PMID:33146414|PMID:34490615|PMID:34930662|PMID:35046417|PMID:35606784|PMID:35769956|PMID:9536098 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1348575 D RGD:7240710 20190703 OMIM 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 ISO RGD:1348575 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15037715|PMID:15522202|PMID:15637732|PMID:15733261|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16698797|PMID:16717220|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:18414213|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19222032|PMID:19299310|PMID:19519795|PMID:20065251|PMID:20816175|PMID:22323514|PMID:22522420|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25267602|PMID:25326635|PMID:25741868|PMID:25898921|PMID:26245304|PMID:26467025|PMID:27066551|PMID:27159402|PMID:27193224|PMID:27884173|PMID:28097321|PMID:28116189|PMID:28157257|PMID:28492532|PMID:28556411|PMID:28815891|PMID:29101272|PMID:30060766|PMID:30426380|PMID:31311558|PMID:31319225|PMID:31680349|PMID:32528171|PMID:32860008|PMID:34930662|PMID:35046417|PMID:35606784|PMID:9536098 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 ISO RGD:1348575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 PMID:12369018|PMID:15637732|PMID:16575835|PMID:25741868|PMID:28116189|PMID:28492532|PMID:31311558 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:1059 intellectual disability ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:16575835|PMID:18647264|PMID:25741868|PMID:26467025|PMID:28492532 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:10908 hydrocephalus ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:12369018|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28492532|PMID:31311558|PMID:32860008 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:1826 epilepsy ISO RGD:1348575 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1348575 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12369018|PMID:15637732|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:25954003|PMID:26467025|PMID:27618451|PMID:28490743|PMID:28492532|PMID:30060766|PMID:31311558|PMID:32528171|PMID:32860008 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:28492532 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1348575 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:14678799|PMID:15792865|PMID:17878207|PMID:25741868|PMID:28097321|PMID:28492532|PMID:30426380|PMID:31311558 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:9009131 Ventriculomegaly ISO RGD:1348575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:12369018|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28492532|PMID:31311558|PMID:32860008 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:9296 cleft lip ISO RGD:1348575 D RGD:9068941 20200609 RGD associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon PMID:18640039|REF_RGD_ID:11532685 8979477 Pomt1 protein O-mannosyltransferase 1 gene DOID:9884 muscular dystrophy ISO RGD:1348575 D RGD:9068941 20200609 RGD DNA:mutations: :multiple PMID:16575835|REF_RGD_ID:11532686 8979537 Rph3al rabphilin 3A like (without C2 domains) gene DOID:630 genetic disease ISO RGD:1347963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979537 Rph3al rabphilin 3A like (without C2 domains) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8979575 Fbxo5 F-box protein 5 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1319734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 8979575 Fbxo5 F-box protein 5 gene DOID:630 genetic disease ISO RGD:1319734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979584 Ttf1 transcription termination factor 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8979584 Ttf1 transcription termination factor 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1352742 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8979584 Ttf1 transcription termination factor 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8979584 Ttf1 transcription termination factor 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8979584 Ttf1 transcription termination factor 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352742 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8979584 Ttf1 transcription termination factor 1 gene DOID:3652 Leigh disease ISO RGD:1352742 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8979584 Ttf1 transcription termination factor 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1352742 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25851810 8979584 Ttf1 transcription termination factor 1 gene DOID:630 genetic disease ISO RGD:1352742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979602 Mms19 MMS19 homolog, cytosolic iron-sulfur assembly component gene DOID:630 genetic disease ISO RGD:1354311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979645 Chic1 cysteine rich hydrophobic domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8979645 Chic1 cysteine rich hydrophobic domain 1 gene DOID:0080600 COVID-19 ISO RGD:1349014 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8979645 Chic1 cysteine rich hydrophobic domain 1 gene DOID:10283 prostate cancer ISO RGD:1349014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8979645 Chic1 cysteine rich hydrophobic domain 1 gene DOID:12849 autistic disorder ISO RGD:1349014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8979645 Chic1 cysteine rich hydrophobic domain 1 gene DOID:630 genetic disease ISO RGD:1349014 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979663 Brca1 BRCA1 DNA repair associated gene DOID:0060074 ductal carcinoma in situ treatment ISO RGD:2218 D RGD:9068941 20210611 RGD PMID:25861310|REF_RGD_ID:127284854 8979663 Brca1 BRCA1 DNA repair associated gene DOID:0080199 colorectal carcinoma ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:11497291|REF_RGD_ID:126925969 8979663 Brca1 BRCA1 DNA repair associated gene DOID:0080202 adenoid cystic carcinoma ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8979663 Brca1 BRCA1 DNA repair associated gene DOID:0080213 punctate palmoplantar keratoderma type II ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Punctate palmoplantar keratoderma type 2 PMID:10090881|PMID:10447273|PMID:10464624|PMID:10739756|PMID:10788334|PMID:10885601|PMID:11466700|PMID:11597388|PMID:11802209|PMID:11896095|PMID:12125210|PMID:12402332|PMID:12752644|PMID:12771565|PMID:14576434|PMID:14729053|PMID:14986830|PMID:15024741|PMID:15133502|PMID:15951956|PMID:15994883|PMID:16030426|PMID:16541315|PMID:17307836|PMID:17591843|PMID:17922257|PMID:18334730|PMID:18431737|PMID:18694767|PMID:18762988|PMID:18940477|PMID:19208665|PMID:19359128|PMID:20104584|PMID:20301425|PMID:20345474|PMID:20507347|PMID:20569256|PMID:20730485|PMID:21119707|PMID:21324516|PMID:21503673|PMID:21643751|PMID:21834074|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22185575|PMID:22430266|PMID:22535016|PMID:22666503|PMID:23199084|PMID:23232912|PMID:23469205|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24737347|PMID:24825132|PMID:24884479|PMID:25418591|PMID:25428789|PMID:25741868|PMID:25980754|PMID:26295337|PMID:26440929|PMID:26467025|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:27062684|PMID:27425403|PMID:27433846|PMID:27741520|PMID:27914478|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28285342|PMID:28324225|PMID:28423363|PMID:28492532|PMID:28503720|PMID:29161300|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29758562|PMID:29790872|PMID:29907814|PMID:29961768|PMID:30067863|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30322717|PMID:30333958|PMID:30480775|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30975216|PMID:31065452|PMID:31090900|PMID:31159747|PMID:31360904|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32438681|PMID:32719484|PMID:32854451|PMID:32885271|PMID:33449224|PMID:33471991|PMID:33484353|PMID:35409996|PMID:36003761|PMID:36612302|PMID:7545954|PMID:7894492|PMID:8531967|PMID:8644703|PMID:8833256|PMID:8841191|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9634504 8979663 Brca1 BRCA1 DNA repair associated gene DOID:0081278 infant-type hemispheric glioma ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Infant-type hemispheric glioma PMID:19543972|PMID:21990134|PMID:21990165|PMID:24489791|PMID:25452441|PMID:25741868|PMID:25823446|PMID:26467025|PMID:27225819|PMID:27741520|PMID:28492532|PMID:28888541|PMID:29339979|PMID:29446198|PMID:29506128|PMID:29854283|PMID:29907814|PMID:30209399|PMID:30219179|PMID:30339520|PMID:32380732|PMID:32438681|PMID:34572941|PMID:9609997 8979663 Brca1 BRCA1 DNA repair associated gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:11157798|PMID:11802209|PMID:12496476|PMID:15235020|PMID:17279547|PMID:17308087|PMID:17574969|PMID:17924331|PMID:19200354|PMID:19563646|PMID:20516115|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21702907|PMID:21965345|PMID:21990134|PMID:22889855|PMID:23289006|PMID:23867111|PMID:24055113|PMID:24569164|PMID:24845084|PMID:25472942|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26884819|PMID:27272900|PMID:28265380|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28724667|PMID:28831036|PMID:29161300|PMID:29297111|PMID:29712865|PMID:30103829|PMID:30287823|PMID:30825404|PMID:31454914|PMID:31472684|PMID:31825140|PMID:32338768|PMID:33098347|PMID:33468216|PMID:33471991 8979663 Brca1 BRCA1 DNA repair associated gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 8979663 Brca1 BRCA1 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:69132 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:12491487|PMID:15235020|PMID:15447980|PMID:16267036|PMID:17924331|PMID:21990134|PMID:24055113|PMID:24728327|PMID:24729269|PMID:25637381|PMID:25741868|PMID:28492532|PMID:36329109 8979663 Brca1 BRCA1 DNA repair associated gene DOID:10283 prostate cancer no_association ISO RGD:69132 D RGD:9068941 20200609 RGD PMID:10398279|REF_RGD_ID:734657 8979663 Brca1 BRCA1 DNA repair associated gene DOID:10283 prostate cancer severity ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:deletions: :185_186del,1294_1333del,3875_3878del PMID:18182994|REF_RGD_ID:2289042 8979663 Brca1 BRCA1 DNA repair associated gene DOID:10534 stomach cancer ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10227398|PMID:10326698|PMID:10389907|PMID:10486320|PMID:10505028|PMID:10595255|PMID:10634513|PMID:10644434|PMID:10804288|PMID:10923033|PMID:11149425|PMID:11157798|PMID:11260866|PMID:11410501|PMID:11462239|PMID:11504767|PMID:11506493|PMID:11595708|PMID:11597388|PMID:11695708|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11920621|PMID:12360400|PMID:12400015|PMID:12402341|PMID:12491487|PMID:12601471|PMID:12624724|PMID:12655560|PMID:12732733|PMID:12815604|PMID:12827452|PMID:12955716|PMID:14531499|PMID:14534301|PMID:15026808|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15865297|PMID:16111488|PMID:16140926|PMID:16199547|PMID:16267036|PMID:16287141|PMID:16489001|PMID:16528604|PMID:16528612|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17221156|PMID:17305420|PMID:17308087|PMID:17591843|PMID:17851763|PMID:17922413|PMID:18036263|PMID:18446624|PMID:18465347|PMID:18528753|PMID:18712473|PMID:19016756|PMID:19200354|PMID:19287957|PMID:19370767|PMID:19563646|PMID:19892845|PMID:19949876|PMID:20103620|PMID:20104584|PMID:20378548|PMID:20455026|PMID:20516115|PMID:20727672|PMID:20960228|PMID:21042765|PMID:21213370|PMID:21324516|PMID:21447777|PMID:21473589|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22277901|PMID:22505045|PMID:22711857|PMID:22737296|PMID:22752604|PMID:22776961|PMID:22798144|PMID:22843421|PMID:22889855|PMID:23161852|PMID:23175448|PMID:23231788|PMID:23239986|PMID:23364291|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23704984|PMID:23842040|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24569164|PMID:24667779|PMID:24719479|PMID:24728189|PMID:24884479|PMID:24916970|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25971625|PMID:25980754|PMID:26028024|PMID:26083025|PMID:26153499|PMID:26183948|PMID:26187060|PMID:26246475|PMID:26295337|PMID:26306726|PMID:26350514|PMID:26430151|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26727311|PMID:26777316|PMID:26848529|PMID:27008870|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28111427|PMID:28152038|PMID:28176296|PMID:28205045|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28398198|PMID:28423363|PMID:28490613|PMID:28492532|PMID:28525389|PMID:28724667|PMID:28781887|PMID:28802053|PMID:28831036|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29486991|PMID:29625052|PMID:29673794|PMID:29752822|PMID:29907814|PMID:29922827|PMID:30040829|PMID:30078507|PMID:30103829|PMID:30128899|PMID:30159786|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30309222|PMID:30333958|PMID:30374176|PMID:30430080|PMID:30458859|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30875412|PMID:30962250|PMID:30968603|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31343793|PMID:31347298|PMID:31372034|PMID:31447099|PMID:31467430|PMID:31528241|PMID:31780705|PMID:31825140|PMID:31924417|PMID:32072338|PMID:32123317|PMID:32295079|PMID:32341426|PMID:32438681|PMID:32455662|PMID:32486089|PMID:32546644|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32832836|PMID:32906206|PMID:32980694|PMID:33037428|PMID:33067557|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985 8979663 Brca1 BRCA1 DNA repair associated gene DOID:10534 stomach cancer ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:33428613|PMID:33442023|PMID:33461583|PMID:33471991|PMID:33726785|PMID:33850850|PMID:34645131|PMID:34906479|PMID:34981296|PMID:35039564|PMID:35377489|PMID:35420638|PMID:35918668|PMID:36329109|PMID:36988593|PMID:734551|PMID:7627958|PMID:7894493|PMID:8554067|PMID:8723683|PMID:8808710|PMID:8875986|PMID:9042907|PMID:9150149|PMID:9150151|PMID:9150154|PMID:9197534|PMID:9760198 8979663 Brca1 BRCA1 DNA repair associated gene DOID:10534 stomach cancer susceptibility ISO RGD:69132 D RGD:9068941 20210521 RGD DNA:SNP: :rs799917 (human) PMID:25266802|REF_RGD_ID:126925956 8979663 Brca1 BRCA1 DNA repair associated gene DOID:10534 stomach cancer treatment ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:23633032|REF_RGD_ID:126925962 8979663 Brca1 BRCA1 DNA repair associated gene DOID:10763 hypertension treatment ISO RGD:69132 D RGD:9068941 20210611 RGD PMID:24239235|REF_RGD_ID:8693672 8979663 Brca1 BRCA1 DNA repair associated gene DOID:11054 urinary bladder cancer ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10196379|PMID:10227398|PMID:10389907|PMID:10644434|PMID:10804288|PMID:11149425|PMID:11157798|PMID:11320250|PMID:11504767|PMID:11595708|PMID:11710835|PMID:11739404|PMID:11773283|PMID:11802209|PMID:12360400|PMID:12402341|PMID:12655560|PMID:12827452|PMID:15145354|PMID:15172985|PMID:15235020|PMID:15571962|PMID:15617999|PMID:15865297|PMID:16267036|PMID:17305420|PMID:17576681|PMID:18159056|PMID:18489799|PMID:18500671|PMID:19016756|PMID:19504351|PMID:19543972|PMID:20103620|PMID:20104584|PMID:20378548|PMID:20516115|PMID:21203900|PMID:21232165|PMID:21324516|PMID:21553119|PMID:21725363|PMID:21769658|PMID:21922593|PMID:21990134|PMID:22006311|PMID:22434525|PMID:22505045|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23161852|PMID:23175448|PMID:23239986|PMID:23397983|PMID:23536787|PMID:23683081|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24218521|PMID:24312913|PMID:24728189|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25802882|PMID:25823446|PMID:26028024|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26709275|PMID:26852130|PMID:27157322|PMID:27272900|PMID:27553291|PMID:27831900|PMID:28123851|PMID:28176296|PMID:28324225|PMID:28492532|PMID:28993434|PMID:29297111|PMID:29310832|PMID:29339979|PMID:29446198|PMID:29470806|PMID:29752822|PMID:29805665|PMID:29975922|PMID:30078507|PMID:30209399|PMID:30322717|PMID:30555256|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30875412|PMID:31159747|PMID:31209999|PMID:31300551|PMID:31372034|PMID:31447099|PMID:31477031|PMID:31528241|PMID:31794323|PMID:31825140|PMID:32546644|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32832836|PMID:32894085|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33442023|PMID:33471991|PMID:34403063|PMID:36605468|PMID:36988593|PMID:7894493|PMID:8460636|PMID:8554067|PMID:8968102|PMID:9150154|PMID:9452084|PMID:9536098|PMID:9643283|PMID:9760198|PMID:9808526 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1324 lung cancer ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:10486320|PMID:10505028|PMID:11260866|PMID:11739404|PMID:11802209|PMID:11920621|PMID:12360400|PMID:12400015|PMID:12601471|PMID:16528604|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17591843|PMID:18446624|PMID:18465347|PMID:19949876|PMID:20104584|PMID:20727672|PMID:21922593|PMID:23704984|PMID:24249303|PMID:24504028|PMID:24549055|PMID:25085752|PMID:25682074|PMID:25741868|PMID:26028024|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26541979|PMID:27153395|PMID:27257965|PMID:27553291|PMID:28324225|PMID:28423363|PMID:28492532|PMID:28724667|PMID:29021639|PMID:29280214|PMID:29339979|PMID:29446198|PMID:29470806|PMID:30078507|PMID:30209399|PMID:31209999|PMID:36988593|PMID:8554067|PMID:9760198 8979663 Brca1 BRCA1 DNA repair associated gene DOID:14566 disease of cellular proliferation ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15520196 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1520 colon carcinoma ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25741868|PMID:26295337|PMID:26467025|PMID:28492532|PMID:31911673|PMID:33471991 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10612827|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12393792|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26580448 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33875706|PMID:34063308|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33875706|PMID:34063308|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32854451|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:34063308|PMID:34749799|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32854451|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:34063308|PMID:34749799|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26564481|PMID:26580448|PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31368036|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32658311|PMID:32812259|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34296289|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35127508|PMID:35681111|PMID:35918668|PMID:36011273|PMID:36329109|PMID:36988593|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35127508|PMID:35196514|PMID:35681111|PMID:35918668|PMID:36011273|PMID:36329109|PMID:36988593|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35127508|PMID:35196514|PMID:35659930|PMID:35681111|PMID:35918668|PMID:36011273|PMID:36329109|PMID:36988593|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, post-chemotherapy poor survival in | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35127508|PMID:35196514|PMID:35659930|PMID:35681111|PMID:35918668|PMID:36011273|PMID:36329109|PMID:36988593|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10612827|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12890739|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26764160|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30430080|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31451522|PMID:31454914|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32856862|PMID:32868804|PMID:32885271|PMID:32895300|PMID:32906206|PMID:32959997|PMID:33010199|PMID:33067490|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33432171|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34657373|PMID:34687117|PMID:34721658|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35116780|PMID:35127508|PMID:35150867|PMID:35196514|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35409996|PMID:35477782|PMID:35534113|PMID:35578052|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35731312|PMID:35753294|PMID:35908255|PMID:35918668|PMID:36003761|PMID:36011273|PMID:36329109|PMID:36451132|PMID:36612302|PMID:36964191|PMID:36988593|PMID:37280479|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10612827|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11260866|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12890739|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14729053|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:202008|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24825132|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26057125|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26764160|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27153395|PMID:27157322|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29884841|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30430080|PMID:30458859|PMID:30472649|PMID:30480775|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31076742|PMID:31090900 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32856862|PMID:32868804|PMID:32885271|PMID:32895300|PMID:32906206|PMID:32959997|PMID:33010199|PMID:33067490|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33432171|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33801055|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34326862|PMID:34597585|PMID:34657373|PMID:34680387|PMID:34687117|PMID:34721658|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35023674|PMID:35116780|PMID:35127508|PMID:35150867|PMID:35196514|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35281878|PMID:35377489|PMID:35409996|PMID:35477782|PMID:35534113|PMID:35578052|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35731312|PMID:35753294|PMID:35908255|PMID:35918668|PMID:36003761|PMID:36011273|PMID:36169650|PMID:36329109|PMID:36451132|PMID:36537080|PMID:36612302|PMID:36964191|PMID:36988593|PMID:37085799|PMID:37280479|PMID:7493024|PMID:7545954|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer susceptibility ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:mutation PMID:7907678|REF_RGD_ID:1599497 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1612 breast cancer susceptibility ISO RGD:69132 D RGD:9068941 20200609 RGD mRNA:allelic imbalance:lymphocyte PMID:18204050|REF_RGD_ID:2293153 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1725 peritoneum cancer ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peritoneum cancer PMID:20104584|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29446198|PMID:31853058 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 PMID:10389907|PMID:10788334|PMID:10811118|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11504767|PMID:11739404|PMID:12204006|PMID:12393792|PMID:12400015|PMID:12566964|PMID:12732733|PMID:12810666|PMID:12938098|PMID:15024741|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15569676|PMID:15876480|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16949048|PMID:17100994|PMID:18273839|PMID:18680205|PMID:18763032|PMID:18783588|PMID:19208665|PMID:19370767|PMID:19594371|PMID:19770520|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20345474|PMID:20373018|PMID:20507347|PMID:20569256|PMID:20683152|PMID:21232165|PMID:21324516|PMID:21922593|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22172724|PMID:22486713|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22843421|PMID:23161852|PMID:23199084|PMID:23469205|PMID:23683081|PMID:23867111|PMID:24033266|PMID:24131973|PMID:24312913|PMID:24504028|PMID:24884479|PMID:25330149|PMID:25400221|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25948282|PMID:26083025|PMID:26187060|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26681312|PMID:26852130|PMID:26911350|PMID:27153395|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27498913|PMID:27741520|PMID:27907908|PMID:27978560|PMID:28111427|PMID:28263838|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28492532|PMID:29161300|PMID:29215753|PMID:29335924|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29492181|PMID:29667044|PMID:29797126|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30093976|PMID:30209399|PMID:30287823|PMID:30606148|PMID:31368036|PMID:31825140|PMID:32295079|PMID:32426482|PMID:32467295|PMID:32658311|PMID:33309985|PMID:33558524|PMID:33875706|PMID:7795652|PMID:7837387|PMID:7894493|PMID:8644702|PMID:8723683|PMID:8968102|PMID:9510469|PMID:9525870|PMID:9663595 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33875706|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9510469|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9805131|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:10090881|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10615237|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11015464|PMID:11102986|PMID:11106241|PMID:11157798|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11526114|PMID:11597388|PMID:11739404|PMID:11802209|PMID:11896095|PMID:11920621|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12566964|PMID:12601471|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:14534301|PMID:14576434|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15569676|PMID:15876480|PMID:15951956|PMID:15955237|PMID:15994883|PMID:16030426|PMID:16162645|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16949048|PMID:16998791|PMID:17100994|PMID:17307836|PMID:17308087|PMID:17591843|PMID:18036263|PMID:18159056|PMID:18273839|PMID:18413725|PMID:18418466|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18940477|PMID:19200354|PMID:19208665|PMID:19287957|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:21119707|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21702907|PMID:21709188|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23192404|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23397983|PMID:23469205|PMID:23479189|PMID:23683081|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24131973|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24333842|PMID:24504028|PMID:24516540|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24884479|PMID:25085752|PMID:25330149|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25716084|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27741520|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28263838|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29161300|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29667044|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30765603|PMID:30962250|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31742824|PMID:31825140|PMID:31851867|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33875706|PMID:34413315|PMID:34597585|PMID:36329109|PMID:36988593|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8944023|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9452076|PMID:9510469|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9699523|PMID:9760198|PMID:9805131|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:10090881|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10505028|PMID:10615237|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11015464|PMID:11102977|PMID:11102986|PMID:11106241|PMID:11157798|PMID:11251181|PMID:11260866|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11526114|PMID:11597388|PMID:11739404|PMID:11802209|PMID:11896095|PMID:11920621|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12566964|PMID:12601471|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:14534301|PMID:14576434|PMID:14729053|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15569676|PMID:15876480|PMID:15951956|PMID:15955237|PMID:15994883|PMID:16030426|PMID:16162645|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16949048|PMID:16998791|PMID:17100994|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17591843|PMID:17922257|PMID:18036263|PMID:18159056|PMID:18243530|PMID:18273839|PMID:18334730|PMID:18413725|PMID:18418466|PMID:18431737|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18940477|PMID:19200354|PMID:19208665|PMID:19287957|PMID:19359128|PMID:19370767|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20807450|PMID:21119707|PMID:21147080|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21371001|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21523855|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23239986|PMID:23397983|PMID:23469205|PMID:23479189|PMID:23683081|PMID:23695190|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24131973|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24333842|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24825132|PMID:24884479|PMID:25066507|PMID:25085752|PMID:25085762|PMID:25330149|PMID:25371446|PMID:25400221|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26206375|PMID:26219728|PMID:26246475|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26430151|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26777316|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28263838|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28364669|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4 PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28888541|PMID:28993434|PMID:29021639|PMID:29161300|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29667044|PMID:29758562|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30480775|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30765603|PMID:30962250|PMID:30975216|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31742824|PMID:31825140|PMID:31851867|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32782288|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33507482|PMID:33558524|PMID:33606809|PMID:33674644|PMID:33758026|PMID:33875706|PMID:34413315|PMID:34597585|PMID:34657373|PMID:34981296|PMID:35039564|PMID:35409996|PMID:35464868|PMID:35918668|PMID:36003761|PMID:36329109|PMID:36612302|PMID:36627197|PMID:36988593|PMID:7545954|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8944023|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9452076|PMID:9510469|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9699523|PMID:9760198|PMID:9805131|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:1793 pancreatic cancer susceptibility ISO RGD:69132 D RGD:7240710 20240320 OMIM 8979663 Brca1 BRCA1 DNA repair associated gene DOID:219 colon cancer disease_progression ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:33583275|REF_RGD_ID:126925959 8979663 Brca1 BRCA1 DNA repair associated gene DOID:219 colon cancer susceptibility ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:mutation PMID:7907678|REF_RGD_ID:1599497 8979663 Brca1 BRCA1 DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:69132 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:10227398|PMID:10340909|PMID:10389907|PMID:10644434|PMID:10699917|PMID:11044354|PMID:11102986|PMID:11149425|PMID:11157798|PMID:11251181|PMID:11504767|PMID:11802209|PMID:12181777|PMID:12183412|PMID:12393792|PMID:12402341|PMID:12496476|PMID:12566964|PMID:12655560|PMID:12732733|PMID:12955716|PMID:12955719|PMID:14647443|PMID:14973102|PMID:15024741|PMID:15145354|PMID:15235020|PMID:15353005|PMID:15383404|PMID:15385441|PMID:15865297|PMID:15876480|PMID:16168118|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16518693|PMID:16949048|PMID:17100994|PMID:17305420|PMID:17308087|PMID:17453335|PMID:17574969|PMID:17576681|PMID:17688236|PMID:17924331|PMID:18284688|PMID:18340530|PMID:18493658|PMID:18763032|PMID:18783588|PMID:18951461|PMID:19016756|PMID:19200354|PMID:19208665|PMID:19491284|PMID:19563646|PMID:19941162|PMID:20103620|PMID:20104584|PMID:20373018|PMID:20516115|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21725363|PMID:21751003|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22217648|PMID:22476429|PMID:22505045|PMID:22516946|PMID:22711857|PMID:22752604|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22889855|PMID:22970155|PMID:23161852|PMID:23199084|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23683081|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24489791|PMID:24504028|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24845084|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25472942|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25646469|PMID:25682074|PMID:25741868|PMID:25802882|PMID:25823446|PMID:25939603|PMID:25948282|PMID:26028024|PMID:26083025|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26541979|PMID:26689913|PMID:26709275|PMID:26852130|PMID:26884819|PMID:26976419|PMID:27153395|PMID:27157322|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27498913|PMID:27658390|PMID:27741520|PMID:27802165|PMID:27831900|PMID:27886673|PMID:27907908|PMID:28111427|PMID:28176296|PMID:28265380|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28440963|PMID:28477318|PMID:28480178|PMID:28492532|PMID:28664449|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28831036|PMID:28970858|PMID:28993434|PMID:29020732|PMID:29161300|PMID:29176636|PMID:29215753|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29446198|PMID:29470806|PMID:29667044|PMID:29681614|PMID:29712865|PMID:29731985|PMID:29752822|PMID:30093976|PMID:30103829|PMID:30209399|PMID:30287823|PMID:30415210|PMID:30555256|PMID:30606148|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30825404|PMID:30875412|PMID:31131967|PMID:31159747|PMID:31214711|PMID:31372034|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31742824|PMID:31825140|PMID:31911673|PMID:32295079|PMID:32338768|PMID:32426482|PMID:32467295|PMID:32710294|PMID:32832836|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33468216|PMID:33471991|PMID:33875706|PMID:34301763|PMID:36329109|PMID:36988593|PMID:7611277|PMID:7837387|PMID:7894493|PMID:8644702|PMID:8723683|PMID:8807330|PMID:9150149|PMID:9150154|PMID:9510469|PMID:9536098|PMID:9663595 8979663 Brca1 BRCA1 DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10227398|PMID:10340909|PMID:10389907|PMID:10508480|PMID:10644434|PMID:10699917|PMID:11044354|PMID:11102986|PMID:11149425|PMID:11157798|PMID:11251181|PMID:11504767|PMID:11802209|PMID:12181777|PMID:12183412|PMID:12393792|PMID:12402341|PMID:12496476|PMID:12566964|PMID:12655560|PMID:12732733|PMID:12955716|PMID:12955719|PMID:14647443|PMID:14973102|PMID:15024741|PMID:15145354|PMID:15235020|PMID:15353005|PMID:15383404|PMID:15385441|PMID:15865297|PMID:15876480|PMID:16168118|PMID:16261400|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16518693|PMID:16905680|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17279547|PMID:17305420|PMID:17308087|PMID:17453335|PMID:17574969|PMID:17576681|PMID:17688236|PMID:17924331|PMID:18284688|PMID:18340530|PMID:18493658|PMID:18567944|PMID:18763032|PMID:18783588|PMID:18951461|PMID:19016756|PMID:19200354|PMID:19208665|PMID:19491284|PMID:19563646|PMID:19941162|PMID:20103620|PMID:20104584|PMID:20373018|PMID:20516115|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21725363|PMID:21751003|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22217648|PMID:22476429|PMID:22505045|PMID:22516946|PMID:22711857|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22856468|PMID:22889855|PMID:22970155|PMID:23161852|PMID:23199084|PMID:23289006|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23683081|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24489791|PMID:24504028|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24845084|PMID:24916970|PMID:25066507|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25472942|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25646469|PMID:25682074|PMID:25741868|PMID:25802882|PMID:25823446|PMID:25884701|PMID:25939603|PMID:25948282|PMID:26028024|PMID:26083025|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26541979|PMID:26689913|PMID:26709275|PMID:26764160|PMID:26852130|PMID:26884819|PMID:26976419|PMID:27153395|PMID:27157322|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27498913|PMID:27509926|PMID:27553368|PMID:27658390|PMID:27741520|PMID:27802165|PMID:27831900|PMID:27886673|PMID:27907908|PMID:28111427|PMID:28176296|PMID:28265380|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28440963|PMID:28477318|PMID:28480178|PMID:28492532|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28692638|PMID:28724667|PMID:28781887|PMID:28831036|PMID:28970858|PMID:28993434|PMID:29020732|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29215753|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29446198|PMID:29470806|PMID:29667044|PMID:29681614|PMID:29712865|PMID:29731985|PMID:29752822|PMID:30093976|PMID:30103829|PMID:30209399|PMID:30287823|PMID:30415210|PMID:30555256|PMID:30606148|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30765603|PMID:30825404|PMID:30875412|PMID:31131967|PMID:31159747|PMID:31214711|PMID:31372034|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31907386|PMID:31911673|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32426482|PMID:32467295|PMID:32710294|PMID:32832836|PMID:32879886|PMID:32980694|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33468216|PMID:33471991|PMID:33875706|PMID:34301763|PMID:34981296|PMID:35220195|PMID:35918668|PMID:36329109|PMID:36988593|PMID:7611277|PMID:7837387|PMID:7894493|PMID:8644702|PMID:8723683|PMID:8807330|PMID:9150149|PMID:9150154|PMID:9510469|PMID:9536098|PMID:9663595 8979663 Brca1 BRCA1 DNA repair associated gene DOID:2394 ovarian cancer susceptibility ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:insertion: :5382insC PMID:18256760|REF_RGD_ID:2293152 8979663 Brca1 BRCA1 DNA repair associated gene DOID:2871 endometrial carcinoma ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10090881|PMID:10447273|PMID:10464624|PMID:10667592|PMID:10667595|PMID:10739756|PMID:10788334|PMID:10885601|PMID:11157798|PMID:11251181|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11802209|PMID:11896095|PMID:12125210|PMID:12393792|PMID:12402332|PMID:12496476|PMID:12566964|PMID:12752644|PMID:12771565|PMID:12955716|PMID:14576434|PMID:14729053|PMID:14986830|PMID:15024741|PMID:15133502|PMID:15235020|PMID:15383404|PMID:15876480|PMID:15951956|PMID:15994883|PMID:16014699|PMID:16030426|PMID:16168118|PMID:16267036|PMID:16284991|PMID:16541315|PMID:16685647|PMID:17279547|PMID:17307836|PMID:17308087|PMID:17574969|PMID:17591843|PMID:17922257|PMID:17924331|PMID:18334730|PMID:18431737|PMID:18489799|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18936166|PMID:18940477|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19340607|PMID:19359128|PMID:19563646|PMID:20104584|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20730485|PMID:21119707|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21834074|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22185575|PMID:22430266|PMID:22535016|PMID:22666503|PMID:22776961|PMID:22889855|PMID:23161852|PMID:23199084|PMID:23232912|PMID:23289006|PMID:23469205|PMID:23479189|PMID:23683081|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24055113|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24728189|PMID:24737347|PMID:24825132|PMID:24845084|PMID:24884479|PMID:25066507|PMID:25330149|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25777348|PMID:25948282|PMID:25980754|PMID:26083025|PMID:26219728|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26852130|PMID:26884819|PMID:27062684|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27741520|PMID:27914478|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28265380|PMID:28285342|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28724667|PMID:28831036|PMID:29161300|PMID:29168416|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29712865|PMID:29758562|PMID:29790872|PMID:29907814|PMID:29961768|PMID:30067863|PMID:30103829|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30257646|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30480775|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30825404|PMID:30975216|PMID:31065452|PMID:31090900|PMID:31159747|PMID:31360904|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32438681|PMID:32719484|PMID:32854451|PMID:32885271|PMID:33098347|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:35409996|PMID:36003761|PMID:36329109|PMID:36612302|PMID:36881271|PMID:7545954|PMID:7581445|PMID:7837387|PMID:7894492|PMID:8531967|PMID:8644702|PMID:8644703|PMID:8833256|PMID:8841191|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9634504|PMID:9663595 8979663 Brca1 BRCA1 DNA repair associated gene DOID:3007 breast ductal carcinoma ISO RGD:69132 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:10196379|PMID:11400546|PMID:14555511|PMID:15235020|PMID:16014699|PMID:17341484|PMID:17585057|PMID:19661094|PMID:20104584|PMID:21232165|PMID:21702907|PMID:21708019|PMID:21965345|PMID:21990134|PMID:22136207|PMID:22703879|PMID:23192404|PMID:23249957|PMID:23469205|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:36329109|PMID:9063749 8979663 Brca1 BRCA1 DNA repair associated gene DOID:3008 invasive ductal carcinoma ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast PMID:11179017|PMID:11956590|PMID:12698193|PMID:12955716|PMID:14517958|PMID:14760071|PMID:15145354|PMID:16455195|PMID:17645508|PMID:20104584|PMID:20727672|PMID:21702907|PMID:22711857|PMID:22798144|PMID:23469205|PMID:23479189|PMID:23633455|PMID:24884479|PMID:25256238|PMID:25741868|PMID:25863477|PMID:26026974|PMID:26295337|PMID:26467025|PMID:28324225|PMID:28492532|PMID:29446198|PMID:30078507|PMID:30702160|PMID:30720863|PMID:31214711|PMID:33471991|PMID:7493024 8979663 Brca1 BRCA1 DNA repair associated gene DOID:305 carcinoma ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203372 8979663 Brca1 BRCA1 DNA repair associated gene DOID:3247 rhabdomyosarcoma ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:12920083|PMID:16287141|PMID:20104584|PMID:21232165|PMID:22923021|PMID:23397983|PMID:23635950|PMID:25741868|PMID:25940717|PMID:26295337|PMID:26306726|PMID:26467025|PMID:26852130|PMID:28492532|PMID:28740454|PMID:30940100|PMID:32772980 8979663 Brca1 BRCA1 DNA repair associated gene DOID:3458 breast adenocarcinoma treatment ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:8589721|REF_RGD_ID:126925966 8979663 Brca1 BRCA1 DNA repair associated gene DOID:3459 breast carcinoma ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:10406662|PMID:10447273|PMID:10486320|PMID:10505028|PMID:10737987|PMID:10788334|PMID:10811118|PMID:10952777|PMID:11102977|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11251181|PMID:11260866|PMID:11278247|PMID:11320250|PMID:11359908|PMID:11431698|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11916966|PMID:11920621|PMID:12112655|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12566964|PMID:12601471|PMID:12732733|PMID:12810666|PMID:12872265|PMID:12890739|PMID:12938098|PMID:12955716|PMID:14986830|PMID:15024741|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15689452|PMID:15876480|PMID:15923272|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16528604|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16758124|PMID:16905680|PMID:16943438|PMID:16998791|PMID:17011978|PMID:17080309|PMID:17305420|PMID:17308087|PMID:17576681|PMID:17591843|PMID:17924331|PMID:18036263|PMID:18243530|PMID:18446624|PMID:18465347|PMID:18627636|PMID:18680205|PMID:18693280|PMID:18763032|PMID:18783588|PMID:19016756|PMID:19208665|PMID:19404736|PMID:19543972|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20215541|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20950396|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21232165|PMID:21324516|PMID:2144777|PMID:21447777|PMID:21503673|PMID:21520273|PMID:21559243|PMID:21702907|PMID:21720365|PMID:21913181|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22044689|PMID:22160602|PMID:22172724|PMID:22399190|PMID:22615956|PMID:22703879|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22843421|PMID:23161852|PMID:23199084|PMID:23233716|PMID:23239986|PMID:23348723|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23633455|PMID:23683081|PMID:23695190|PMID:23697973|PMID:23704984|PMID:23867111|PMID:24033266|PMID:24065114|PMID:24131973|PMID:24249303|PMID:24312913|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24569164|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25823446|PMID:25850536|PMID:25863477|PMID:25884701|PMID:25948282|PMID:25971625|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26246475|PMID:26295337|PMID:26350514|PMID:26467025|PMID:26541979|PMID:26656232|PMID:26681312|PMID:26689913|PMID:26780556|PMID:26845104|PMID:26848529|PMID:26852130|PMID:27062684|PMID:27153395|PMID:27197267|PMID:27257965|PMID:27272900|PMID:27328445|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27741520|PMID:27836010|PMID:27908594|PMID:27978560|PMID:27997688|PMID:28176296|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28724667|PMID:28781887|PMID:28873162|PMID:28888541|PMID:28993434|PMID:29021639|PMID:29116469|PMID:29152070|PMID:29161300|PMID:29176636|PMID:29233532|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30209399|PMID:30266954|PMID:30287823|PMID:30309222|PMID:30350268|PMID:30606148|PMID:30675319|PMID:30702160|PMID:30720243|PMID:30728895|PMID:30765603|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31341520|PMID:31347298|PMID:31368036|PMID:31447099|PMID:31467961|PMID:31492746|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31911673|PMID:32072338|PMID:32295079|PMID:32322110|PMID:32341426|PMID:32438681|PMID:32658311|PMID:32719484|PMID:32733560 8979663 Brca1 BRCA1 DNA repair associated gene DOID:3459 breast carcinoma ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:32741062|PMID:32854451|PMID:32862574|PMID:32885271|PMID:32895300|PMID:33087888|PMID:33471991|PMID:33484353|PMID:33507482|PMID:33558524|PMID:33674644|PMID:33801055|PMID:34196900|PMID:34290354|PMID:34413315|PMID:34855882|PMID:35220195|PMID:35464868|PMID:35918668|PMID:36329109|PMID:36988593|PMID:7795652|PMID:7837387|PMID:7894493|PMID:7939630|PMID:8554067|PMID:8595420|PMID:8644702|PMID:8807330|PMID:8968102|PMID:8972225|PMID:9063749|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9663595|PMID:9760198 8979663 Brca1 BRCA1 DNA repair associated gene DOID:3459 breast carcinoma disease_progression ISO RGD:69132 D RGD:9068941 20200609 RGD protein:altered localization:cytoplasm PMID:18400253|REF_RGD_ID:2293150 8979663 Brca1 BRCA1 DNA repair associated gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:69132 D RGD:9068941 20210521 RGD DNA:SNP: :rs799917 (human) PMID:23749772|REF_RGD_ID:126925960 8979663 Brca1 BRCA1 DNA repair associated gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69132 D RGD:9068941 20210604 RGD PMID:21575522|PMID:23128816|REF_RGD_ID:126925968|REF_RGD_ID:127229935 8979663 Brca1 BRCA1 DNA repair associated gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69132 D RGD:9068941 20210604 RGD DNA:hypermethylation:promoter PMID:23335114|REF_RGD_ID:127229949 8979663 Brca1 BRCA1 DNA repair associated gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:69132 D RGD:9068941 20210604 RGD PMID:24443257|REF_RGD_ID:127229948 8979663 Brca1 BRCA1 DNA repair associated gene DOID:4001 ovarian carcinoma ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:10227398|PMID:10389907|PMID:10804288|PMID:11044645|PMID:11149425|PMID:11595708|PMID:11802209|PMID:12402341|PMID:12655560|PMID:15145354|PMID:15340362|PMID:15865297|PMID:16267036|PMID:16826315|PMID:18159056|PMID:19016756|PMID:20104584|PMID:20373018|PMID:21324516|PMID:21553119|PMID:21614564|PMID:22006311|PMID:22752604|PMID:22798144|PMID:23175448|PMID:23536787|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24218521|PMID:24312913|PMID:24916970|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25802882|PMID:25948282|PMID:26028024|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26709275|PMID:26848529|PMID:27062684|PMID:27741520|PMID:27831900|PMID:27836010|PMID:28176296|PMID:28324225|PMID:28492532|PMID:28541631|PMID:28724667|PMID:28993434|PMID:29310832|PMID:29339979|PMID:29446198|PMID:29470806|PMID:29752822|PMID:29907814|PMID:30093976|PMID:30555256|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30875412|PMID:30968603|PMID:31159747|PMID:31336956|PMID:31372034|PMID:31447099|PMID:31528241|PMID:31825140|PMID:32318955|PMID:32438681|PMID:32710294|PMID:32832836|PMID:33087929|PMID:33151324|PMID:33442023|PMID:33471991|PMID:36988593|PMID:7894493|PMID:8808710|PMID:9150154 8979663 Brca1 BRCA1 DNA repair associated gene DOID:403 mouth disease ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 8979663 Brca1 BRCA1 DNA repair associated gene DOID:4362 cervical cancer disease_progression ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:12773202|REF_RGD_ID:2298941 8979663 Brca1 BRCA1 DNA repair associated gene DOID:4441 dysgerminoma ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dysgerminoma PMID:11376024|PMID:16683254|PMID:19491284|PMID:20104584|PMID:21204799|PMID:23479189|PMID:23536787|PMID:24010542|PMID:24312913|PMID:24372583|PMID:24728189|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26822237|PMID:27062684|PMID:27836010|PMID:28492532|PMID:28993434|PMID:29446198|PMID:29907814|PMID:30078507|PMID:30130155|PMID:30322717|PMID:30702160|PMID:30720863|PMID:31159747|PMID:32885271|PMID:33471991|PMID:9150151 8979663 Brca1 BRCA1 DNA repair associated gene DOID:4905 pancreatic carcinoma ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of head of pancreas | ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10667592|PMID:10667595|PMID:11802209|PMID:12566964|PMID:15024741|PMID:16168118|PMID:16284991|PMID:16685647|PMID:18489799|PMID:19147582|PMID:19340607|PMID:20104584|PMID:25452441|PMID:25741868|PMID:25777348|PMID:26467025|PMID:26681312|PMID:28324225|PMID:28492532|PMID:29446198|PMID:30257646|PMID:30702160|PMID:32295079|PMID:9150174 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5517 stomach carcinoma disease_progression ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:23569343|REF_RGD_ID:9589059 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:125827|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:15001988|PMID:15004537|PMID:15024741 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16633366|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:255556971|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25723446|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209299|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:33010199|PMID:33067557|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:33948387|PMID:34063308|PMID:34271787|PMID:34301763|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209299|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34453642|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35300142|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35300142|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35464868|PMID:35535697|PMID:35886069|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32050665|PMID:32068069|PMID:32072338 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35886069|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14871810|PMID:14961556|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35281878|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11941481|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127508|PMID:35186721|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127508|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35734583|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36922883|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127315|PMID:35127508|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35734583|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36922883|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127315|PMID:35127508|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35734583|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36922883|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127315|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35420638|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35698740|PMID:35734583|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36833189|PMID:36922883|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32548945|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34687117|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35420638|PMID:35438911|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35698740|PMID:35734583|PMID:35753294|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36833189|PMID:36922883|PMID:36964191|PMID:36988593|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32548945|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34687117|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35420638|PMID:35438911|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35698740|PMID:35734583|PMID:35753294|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36833189|PMID:36922883|PMID:36964191|PMID:36988593|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654310|PMID:33654645|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34271787|PMID:34290354 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:34296289|PMID:34301763|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35053526|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35698740|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36171434|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36833189|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36988593|PMID:37060015|PMID:37280479|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11433401|PMID:11436123|PMID:11437933|PMID:11448907|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11695708|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:122156|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:145597|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14729053|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15060014|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:202008|PMID:20206335|PMID:20210032|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:236858|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37280479|PMID:37335020|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome susceptibility ISO RGD:69132 D RGD:7240710 20240320 OMIM 8979663 Brca1 BRCA1 DNA repair associated gene DOID:5744 ovary serous adenocarcinoma ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma PMID:16084575|PMID:16455195|PMID:16949048|PMID:17100994|PMID:19656164|PMID:20033483|PMID:20104584|PMID:20950396|PMID:22160602|PMID:22217648|PMID:22382806|PMID:22762150|PMID:22798144|PMID:23633455|PMID:23961350|PMID:24728189|PMID:24916970|PMID:25741868|PMID:25863477|PMID:26402875|PMID:26467025|PMID:27167707|PMID:27836010|PMID:28111427|PMID:28492532|PMID:29348823|PMID:29446198|PMID:29907814|PMID:30257646|PMID:30702160|PMID:32019277 8979663 Brca1 BRCA1 DNA repair associated gene DOID:630 genetic disease ISO RGD:69132 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:31911673 8979663 Brca1 BRCA1 DNA repair associated gene DOID:6741 bilateral breast cancer ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:11376024|PMID:16683254|PMID:19491284|PMID:20104584|PMID:21204799|PMID:23479189|PMID:23536787|PMID:24010542|PMID:24312913|PMID:24372583|PMID:24728189|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26822237|PMID:27062684|PMID:27836010|PMID:28492532|PMID:28993434|PMID:29446198|PMID:29907814|PMID:30078507|PMID:30130155|PMID:30322717|PMID:30702160|PMID:30720863|PMID:31159747|PMID:32885271|PMID:33471991|PMID:9150151 8979663 Brca1 BRCA1 DNA repair associated gene DOID:8584 Burkitt lymphoma ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Burkitt lymphoma PMID:17262179|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673|PMID:33471991|PMID:36881271 8979663 Brca1 BRCA1 DNA repair associated gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:69132 D RGD:9068941 20200609 RGD DNA:deletions:exon PMID:10442317|REF_RGD_ID:2298942 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203372 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9002221 Hyperplasia ISO RGD:10246 D RGD:9068941 20200609 RGD PMID:11889595|REF_RGD_ID:2293156 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17585057 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9002644 Premature Aging ISO RGD:10246 D RGD:9068941 20200609 RGD PMID:12533509|REF_RGD_ID:10059406 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10090881|PMID:10196379|PMID:10227398|PMID:10441573|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10502781|PMID:10528853|PMID:10615237|PMID:10644434|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11030418|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11462242|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802209|PMID:11844822|PMID:11896095|PMID:11920621|PMID:11938448|PMID:12097257|PMID:12112655|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12491499|PMID:12505256|PMID:12566964|PMID:12601471|PMID:12655560|PMID:12672316|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14534301|PMID:14576434|PMID:14647443|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15172985|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15712267|PMID:15865297|PMID:15876480|PMID:15951956|PMID:15951958|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16615107|PMID:16644204|PMID:16683254|PMID:16777318|PMID:16847550|PMID:16998791|PMID:17148771|PMID:17221156|PMID:17307836|PMID:17308087|PMID:17576681|PMID:17591843|PMID:17688236|PMID:18036263|PMID:18159056|PMID:18228134|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:18980973|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20051372|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20950396|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21232165|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21709188|PMID:21729660|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22434525|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23289006|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23697973|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24131973|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24827135|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25724305|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25823446|PMID:25850536|PMID:25863477|PMID:25880076|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26845104|PMID:26852130|PMID:27062684|PMID:27067391|PMID:27153395|PMID:27157322|PMID:27167707|PMID:27257965|PMID:27272900 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:27425403|PMID:27433846|PMID:27463008|PMID:27495310|PMID:27535533|PMID:27553291|PMID:27741520|PMID:27831900|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28050010|PMID:28091860|PMID:28111427|PMID:28123851|PMID:28145423|PMID:28176296|PMID:28184945|PMID:28194609|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28715532|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29053726|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29550896|PMID:29625052|PMID:29752822|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257646|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30875412|PMID:30962250|PMID:30979843|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31336956|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31411802|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32125938|PMID:32231684|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32778078|PMID:32832836|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8595420|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9145677|PMID:9150149|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9525870|PMID:9536098|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10090881|PMID:10196379|PMID:10227398|PMID:10441573|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10502781|PMID:10505028|PMID:10528853|PMID:10615237|PMID:10644434|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:10923033|PMID:10952777|PMID:11030418|PMID:11102977|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11260866|PMID:11278247|PMID:11320250|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11462242|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802209|PMID:11844822|PMID:11896095|PMID:11920621|PMID:11938448|PMID:12097257|PMID:12112655|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12491499|PMID:12505256|PMID:12566964|PMID:12601471|PMID:12655560|PMID:12672316|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14534301|PMID:14576434|PMID:14647443|PMID:14729053|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15060014|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15172985|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15712267|PMID:15865297|PMID:15876480|PMID:15951956|PMID:15951958|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16515586|PMID:16528604|PMID:16541315|PMID:16615107|PMID:16644204|PMID:16683254|PMID:16777318|PMID:16847550|PMID:16998791|PMID:17148771|PMID:17221156|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17319787|PMID:17576681|PMID:17591843|PMID:17688236|PMID:17922257|PMID:18036263|PMID:18071904|PMID:18159056|PMID:18228134|PMID:18243530|PMID:18334730|PMID:18413725|PMID:18431737|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:18980973|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19370767|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20051372|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20215541|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20950396|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21203900|PMID:21232165|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21729660|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22434525|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23695190|PMID:23697973|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24131973|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24825132|PMID:24827135|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25066507|PMID:25085752|PMID:25085762|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25724305 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:25741868|PMID:25777348|PMID:25782689|PMID:25823446|PMID:25850536|PMID:25863477|PMID:25880076|PMID:25927356|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26430151|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26777316|PMID:26845104|PMID:26848529|PMID:26852130|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27153395|PMID:27157322|PMID:27167707|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27495310|PMID:27553291|PMID:27656653|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27914478|PMID:27926510|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28050010|PMID:28091860|PMID:28111427|PMID:28123851|PMID:28125078|PMID:28145423|PMID:28176296|PMID:28184945|PMID:28194609|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28715532|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28888541|PMID:28993434|PMID:29021639|PMID:29053726|PMID:29116469|PMID:29152070|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29625052|PMID:29752822|PMID:29758562|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257646|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30765603|PMID:30875412|PMID:30962250|PMID:30975216|PMID:30979843|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31336956|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31411802|PMID:31447099|PMID:31454914|PMID:31492746|PMID:31528241|PMID:31825140|PMID:31851867|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32125938|PMID:32231684|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32438681|PMID:32546644|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32741062|PMID:32778078|PMID:32782288|PMID:32832836|PMID:32854451|PMID:32856869|PMID:32885271|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33302456|PMID:33309985|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33507482|PMID:33558524|PMID:33646313|PMID:33674644|PMID:33726785|PMID:33758026|PMID:34242281|PMID:34290354|PMID:34657373|PMID:34680878|PMID:34981296|PMID:35039564|PMID:35220195|PMID:35264596|PMID:35409996|PMID:35464868|PMID:35918668|PMID:36003761|PMID:36329109|PMID:36612302|PMID:36988593|PMID:7545954|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8595420|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8755943|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9145677|PMID:9150149|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9525870|PMID:9536098|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9004203 Chromosome Breakage ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15894690 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9004232 Fanconi Anemia Complementation Group S ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S PMID:10090881|PMID:10359546|PMID:10447273|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10505028|PMID:10615237|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10866029|PMID:10885601|PMID:11102977|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11260866|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11802209|PMID:11896095|PMID:11920621|PMID:11956590|PMID:12097257|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12354934|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12496476|PMID:12566964|PMID:12601471|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14517958|PMID:14534301|PMID:14576434|PMID:14729053|PMID:14760071|PMID:14986830|PMID:15004537|PMID:15024741|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146557|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15876480|PMID:15951956|PMID:15955237|PMID:15994883|PMID:16030426|PMID:16162645|PMID:16168118|PMID:16227521|PMID:16234499|PMID:16267036|PMID:16284991|PMID:16403807|PMID:16455195|PMID:16489001|PMID:16515586|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17369502|PMID:17574969|PMID:17591843|PMID:17645508|PMID:17688236|PMID:17922257|PMID:17924331|PMID:18036263|PMID:18159056|PMID:18243530|PMID:18284688|PMID:18285836|PMID:18334730|PMID:18413725|PMID:18431737|PMID:18446624|PMID:18465347|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:19200354|PMID:19208665|PMID:19340607|PMID:19359128|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20665887|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20807450|PMID:21119707|PMID:21147080|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21523855|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21725363|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23239986|PMID:23269703|PMID:23289006|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23580280|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23695190|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24055113|PMID:24131973|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24333842|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24569164|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24825132|PMID:24845084|PMID:24884479|PMID:25066507|PMID:25085752|PMID:25085762|PMID:25186627|PMID:25256238|PMID:25330149|PMID:25371446|PMID:25400221|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25525159|PMID:25556971|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26187060|PMID:2618727|PMID:26219728|PMID:26236408|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26430151|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9004232 Fanconi Anemia Complementation Group S ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S PMID:26718727|PMID:26727311|PMID:26777316|PMID:26786923|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852130|PMID:26884819|PMID:26913838|PMID:27062684|PMID:27083775|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27760710|PMID:27836010|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28569743|PMID:28724667|PMID:28726806|PMID:28781887|PMID:28831036|PMID:28888541|PMID:28993434|PMID:29021639|PMID:29061375|PMID:29116469|PMID:29133208|PMID:29161300|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29435075|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29684080|PMID:29712865|PMID:29758562|PMID:29790872|PMID:29797126|PMID:29884841|PMID:29901183|PMID:29907814|PMID:29922827|PMID:29936259|PMID:29961768|PMID:29998185|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30191368|PMID:30209399|PMID:30219179|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30480775|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30646163|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30825404|PMID:30875412|PMID:30962250|PMID:30975216|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31214711|PMID:31263571|PMID:31325073|PMID:31341520|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31407530|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31616044|PMID:31639439|PMID:31742824|PMID:31825140|PMID:31851867|PMID:31853058|PMID:31871297|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32152249|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32371905|PMID:32438681|PMID:32486089|PMID:32614418|PMID:32658311|PMID:32699032|PMID:32719484|PMID:32741062|PMID:32782288|PMID:32843487|PMID:32854451|PMID:32856869|PMID:32885271|PMID:33087888|PMID:33098347|PMID:33309985|PMID:33314633|PMID:33449224|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33674644|PMID:33758026|PMID:34413315|PMID:34657373|PMID:34981296|PMID:35039564|PMID:35196514|PMID:35377489|PMID:35409996|PMID:35464868|PMID:35578052|PMID:35918668|PMID:36003761|PMID:36329109|PMID:36612302|PMID:36753473|PMID:36927983|PMID:36988593|PMID:7493024|PMID:7545954|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9159158|PMID:9333265|PMID:9452076|PMID:9482581|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9004232 Fanconi Anemia Complementation Group S susceptibility ISO RGD:69132 D RGD:7240710 20240320 OMIM 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2218 D RGD:9068941 20200609 RGD PMID:12203372|REF_RGD_ID:1599502 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203372|PMID:22767648 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69132 D RGD:9068941 20200609 RGD PMID:17505536|REF_RGD_ID:2293155 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:10246 D RGD:9068941 20200609 RGD PMID:18443292|REF_RGD_ID:2293149 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9005539 Familial Prostate Cancer ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary prostate cancer PMID:17319787|PMID:18489799|PMID:20104584|PMID:21203900|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29446198|PMID:31409081|PMID:32295079 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24082139|PMID:24094589 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24082139 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34749799|PMID:35300142|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34749799|PMID:34981296|PMID:35053526|PMID:35300142|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32050665|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35281878 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35300142|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35980532|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21716271|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23698643|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11941481|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35980532|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127508|PMID:35186721|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127315|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35734583|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36367610|PMID:36385762|PMID:36922883|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32548945|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34687117|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35420638|PMID:35438911|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35698740|PMID:35734583|PMID:35753294|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36367610|PMID:36385762|PMID:36833189|PMID:36922883|PMID:36964191|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654310|PMID:33654645|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35053526|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35698740|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35908255|PMID:35918668|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36171434|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36367610|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36833189|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36988593|PMID:37060015|PMID:37280479|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11433401|PMID:11436123|PMID:11437933|PMID:11448907|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:122156|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:145597|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14729053 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15060014|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:202008|PMID:20206335|PMID:20210032|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:236858|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37280479|PMID:37335020|PMID:591403|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:69132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22048643 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25939603|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26656232|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27978560|PMID:28024868|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30128899|PMID:30152102|PMID:30209399|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30415210|PMID:30458859|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30630528|PMID:30702160|PMID:30720863|PMID:30725392|PMID:30765603|PMID:30787465|PMID:30840646|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31131967|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31464824|PMID:31477031|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31867841|PMID:32068069|PMID:32295079|PMID:32380732|PMID:32467295|PMID:33413596|PMID:33471991|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:23364291|PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31528241|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32894085|PMID:33087888|PMID:33087929 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:33151324|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33726785|PMID:34981296|PMID:35402282|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31528241|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32894085|PMID:33087888|PMID:33087929|PMID:33151324 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33726785|PMID:34301763|PMID:34413315|PMID:34597585|PMID:34981296|PMID:35402282|PMID:35918668|PMID:36329109|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10090881|PMID:10227398|PMID:10340909|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10505028|PMID:10635334|PMID:10728699|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10952777|PMID:11102977|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11260866|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11466700|PMID:11506493|PMID:11526114|PMID:11573085|PMID:11573086|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11857748|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11956590|PMID:12068003|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12181777|PMID:12183412|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12442274|PMID:12491487|PMID:12491499|PMID:12496477|PMID:12531920|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12915465|PMID:12938098|PMID:12955716|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14729053|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15515971|PMID:15569676|PMID:15689452|PMID:15726418|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15923272|PMID:15951956|PMID:15994883|PMID:16014699|PMID:16030099|PMID:16030426|PMID:16168118|PMID:16199547|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16455195|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16616110|PMID:16644204|PMID:16683254|PMID:16758124|PMID:16760288|PMID:16912212|PMID:16998791|PMID:17080309|PMID:17221156|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17453335|PMID:17591842|PMID:17591843|PMID:17645508|PMID:17680524|PMID:17719744|PMID:17851763|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17972177|PMID:17990525|PMID:18006916|PMID:18036263|PMID:18159056|PMID:18176857|PMID:18215206|PMID:18243530|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18415037|PMID:18431501|PMID:18431737|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:19016756|PMID:19098453|PMID:19200354|PMID:19208665|PMID:19287957|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19491284|PMID:19504351|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20167696|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20215541|PMID:20301425|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20614009|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21218378|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21503673|PMID:21520273|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21725363|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22516946|PMID:22535016|PMID:22652532|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22843421 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:22875147|PMID:22923021|PMID:22970155|PMID:23064986|PMID:23161852|PMID:23175448|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23289006|PMID:23364291|PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23695190|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24825132|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27286788|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29152070|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29884841|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30480775|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31492746|PMID:31528241|PMID:31742824 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:3175448|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32806537|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32856862|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32980694|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33507482|PMID:33558524|PMID:33674644|PMID:33726785|PMID:34011307|PMID:34196900|PMID:34290354|PMID:34301763|PMID:34326862|PMID:34413315|PMID:34529195|PMID:34597585|PMID:34855882|PMID:34981296|PMID:35023674|PMID:35116780|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35409996|PMID:35464868|PMID:35578052|PMID:35625946|PMID:35753294|PMID:35918668|PMID:36003761|PMID:36329109|PMID:36612302|PMID:36627197|PMID:36964191|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10447273|PMID:10464624|PMID:10464631|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595255|PMID:10615237|PMID:10634513|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10686936|PMID:10699917|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10874312|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10951344|PMID:10952777|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11030417|PMID:11039575|PMID:11044644|PMID:11102977|PMID:11102986|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11250694|PMID:11251181|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11802208|PMID:11802209|PMID:11844822|PMID:11873550|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11938448|PMID:11956590|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12125210|PMID:12142080|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:122156|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12442274|PMID:12442275|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12810666|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12938098|PMID:12947551|PMID:12955716|PMID:12960223|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14576433|PMID:14576434|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14729053|PMID:14732925|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15591272|PMID:15617999|PMID:15674350|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15744044|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16103107|PMID:16140926|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16485136|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16544996|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16715518|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:16772120|PMID:16786532|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17493881|PMID:17513806|PMID:17557253|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591843|PMID:17645508|PMID:17646271|PMID:17688236|PMID:17719744|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18060491|PMID:18060494|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18228134|PMID:18243530|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18546071|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:18951446|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19276368|PMID:19287957|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19370767|PMID:19404736|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20614009|PMID:20616022|PMID:20638108|PMID:20665887|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21614564|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21720365|PMID:21725363|PMID:2173504|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21859355|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:2206311|PMID:22078348|PMID:22085629|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22469508|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22848303 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:22889855|PMID:22923021|PMID:22970155|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23374397|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23580280|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23695190|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23767878|PMID:23772696|PMID:23867111|PMID:23884708|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24131973|PMID:24212087|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24326041|PMID:24333842|PMID:24372583|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24797986|PMID:24825132|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:25066507|PMID:25085752|PMID:25085762|PMID:25186627|PMID:25236687|PMID:25256238|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25371446|PMID:25400221|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26075997|PMID:26083025|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26332594|PMID:26334176|PMID:26350514|PMID:26402875|PMID:26430151|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26997744|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27286788|PMID:27300552|PMID:27328445|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27553368|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27760710|PMID:27767231|PMID:27802165|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27978560|PMID:27989354|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28398198|PMID:28414925|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:28569743|PMID:28588830|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28985766|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29133208|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29409476|PMID:29433453|PMID:29435075|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29907814|PMID:29922827|PMID:29936259|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30209399|PMID:30214756|PMID:30219179|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30340058|PMID:30350268|PMID:30415210|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30564348|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30927251|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31467430|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31683985|PMID:31742824|PMID:31753525|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32152249|PMID:32195105|PMID:32211327|PMID:32295079|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32371905|PMID:32380732|PMID:32393398|PMID:32420470|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32548945|PMID:32614418|PMID:32658311|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32817299|PMID:32832836|PMID:32843487|PMID:32854451|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32895300|PMID:32959997|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33206196|PMID:33273034|PMID:33274848|PMID:33309985|PMID:33314633|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33646313 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33801055|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34242281|PMID:34284872|PMID:34290354|PMID:34326862|PMID:34403063|PMID:34413315|PMID:34529195|PMID:34657373|PMID:34721658|PMID:34749799|PMID:34855882|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039564|PMID:35116780|PMID:35127508|PMID:35196514|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35409996|PMID:35438911|PMID:35464868|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35659930|PMID:35665744|PMID:35710434|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35875314|PMID:35908255|PMID:35918668|PMID:36003761|PMID:36011273|PMID:36329109|PMID:36612302|PMID:36753473|PMID:36927983|PMID:36964191|PMID:36988593|PMID:37085799|PMID:591403|PMID:7493024|PMID:7545954|PMID:7606717|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8875986|PMID:8933332|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9159158|PMID:9333265|PMID:9361038|PMID:9391879|PMID:9406579|PMID:9440731|PMID:9452076|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9544766|PMID:9585599|PMID:9609997|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9677103|PMID:9699640|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9836472 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:69132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10227398|PMID:11802209|PMID:12402341|PMID:12655560|PMID:15145354|PMID:15865297|PMID:20104584|PMID:21324516|PMID:21553119|PMID:22006311|PMID:22752604|PMID:22798144|PMID:23536787|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24218521|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26028024|PMID:26295337|PMID:26467025|PMID:26709275|PMID:27831900|PMID:28176296|PMID:28324225|PMID:28492532|PMID:28993434|PMID:29310832|PMID:29339979|PMID:29446198|PMID:29470806|PMID:29752822|PMID:30555256|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30875412|PMID:31159747|PMID:31372034|PMID:31447099|PMID:31528241|PMID:31825140|PMID:32710294|PMID:32832836|PMID:33087929|PMID:33151324|PMID:33442023|PMID:33471991|PMID:36988593|PMID:7894493|PMID:9150154 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9256 colorectal cancer ISO RGD:69132 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:30209399|PMID:30257991 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9256 colorectal cancer disease_progression ISO RGD:69132 D RGD:9068941 20210430 RGD PMID:16533773|REF_RGD_ID:126790575 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9256 colorectal cancer onset ISO RGD:69132 D RGD:9068941 20210521 RGD PMID:20862552|REF_RGD_ID:126925961 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9261 nasopharynx carcinoma ISO RGD:69132 D RGD:9068941 20210604 RGD DNA:nonsense mutation: :p.Q563* (human) PMID:28857155|REF_RGD_ID:127229936 8979663 Brca1 BRCA1 DNA repair associated gene DOID:9460 uterine corpus cancer ISO RGD:69132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:10811118|PMID:11157798|PMID:11739404|PMID:12400015|PMID:15024741|PMID:16267036|PMID:20104584|PMID:21203900|PMID:21922593|PMID:24504028|PMID:25741868|PMID:26467025|PMID:27469594|PMID:28492532|PMID:29446198|PMID:29681614|PMID:30209399|PMID:7894493|PMID:8807330|PMID:9667259 8979684 Vps52 VPS52 subunit of GARP complex gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1604402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8979684 Vps52 VPS52 subunit of GARP complex gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1604402 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8979684 Vps52 VPS52 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1604402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979684 Vps52 VPS52 subunit of GARP complex gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604402 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8979708 Tspan8 tetraspanin 8 gene DOID:11394 adult respiratory distress syndrome ISO RGD:736010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8979708 Tspan8 tetraspanin 8 gene DOID:3007 breast ductal carcinoma ISO RGD:736010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8979708 Tspan8 tetraspanin 8 gene DOID:630 genetic disease ISO RGD:736010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979708 Tspan8 tetraspanin 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8979708 Tspan8 tetraspanin 8 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:736010 D RGD:9068941 20230831 RGD mRNA:decreased expression:leg blood vessel (human) PMID:22721676|REF_RGD_ID:401793723 8979727 Rax retina and anterior neural fold homeobox gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1606797 D RGD:7240710 20180130 OMIM 8979727 Rax retina and anterior neural fold homeobox gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1606797 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19158959|PMID:19935664|PMID:20494911|PMID:21778431|PMID:22736936|PMID:24033328|PMID:25741868|PMID:26686525|PMID:28492532|PMID:30811539 8979727 Rax retina and anterior neural fold homeobox gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome 8979727 Rax retina and anterior neural fold homeobox gene DOID:0111988 immunodeficiency 12 ISO RGD:1606797 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 8979727 Rax retina and anterior neural fold homeobox gene DOID:1909 melanoma ISO RGD:1606797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 8979727 Rax retina and anterior neural fold homeobox gene DOID:630 genetic disease ISO RGD:1606797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8979727 Rax retina and anterior neural fold homeobox gene DOID:9002049 Anophthalmia ISO RGD:1606797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15789424 8979727 Rax retina and anterior neural fold homeobox gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1606797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15789424 8979740 Stau1 staufen double-stranded RNA binding protein 1 gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:734025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 8979740 Stau1 staufen double-stranded RNA binding protein 1 gene DOID:1936 atherosclerosis ISO RGD:734025 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 8979740 Stau1 staufen double-stranded RNA binding protein 1 gene DOID:450 myotonic disease ISO RGD:734025 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:27030674 8979740 Stau1 staufen double-stranded RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:734025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979767 Sh2d7 SH2 domain containing 7 gene DOID:0110505 autosomal recessive nonsyndromic deafness 48 ISO RGD:2923266 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 48 PMID:25741868 8979767 Sh2d7 SH2 domain containing 7 gene DOID:2717 Bloom syndrome ISO RGD:2923266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8979767 Sh2d7 SH2 domain containing 7 gene DOID:630 genetic disease ISO RGD:2923266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979767 Sh2d7 SH2 domain containing 7 gene DOID:9256 colorectal cancer ISO RGD:2923266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8979781 Znf548 zinc finger protein 548 gene DOID:630 genetic disease ISO RGD:1347267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979827 Tmem41a transmembrane protein 41A gene DOID:0111546 Currarino syndrome ISO RGD:1352042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8979827 Tmem41a transmembrane protein 41A gene DOID:630 genetic disease ISO RGD:1352042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979836 Slc25a39 solute carrier family 25 member 39 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 8979836 Slc25a39 solute carrier family 25 member 39 gene DOID:630 genetic disease ISO RGD:1604622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979850 Arcn1 archain 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8979850 Arcn1 archain 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1344658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8979850 Arcn1 archain 1 gene DOID:0080690 RASopathy ISO RGD:1344658 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8979850 Arcn1 archain 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 8979850 Arcn1 archain 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 8979850 Arcn1 archain 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8979850 Arcn1 archain 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8979850 Arcn1 archain 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8979850 Arcn1 archain 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1344658 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 8979850 Arcn1 archain 1 gene DOID:10907 microcephaly ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8979850 Arcn1 archain 1 gene DOID:630 genetic disease ISO RGD:1344658 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8979850 Arcn1 archain 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8979850 Arcn1 archain 1 gene DOID:9004866 Ataxia ISO RGD:1344658 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20502676 8979850 Arcn1 archain 1 gene DOID:9005682 SHORT STATURE-MICROGNATHIA SYNDROME ISO RGD:1344658 D RGD:7240710 20190315 OMIM 8979850 Arcn1 archain 1 gene DOID:9005682 SHORT STATURE-MICROGNATHIA SYNDROME ISO RGD:1344658 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: ARCN1-related condition | ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay PMID:25741868|PMID:27476655|PMID:28492532|PMID:31075182|PMID:33154040|PMID:35300924 8979850 Arcn1 archain 1 gene DOID:9007661 Dwarfism ISO RGD:1344658 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8979867 Slc9b2 solute carrier family 9 member B2 gene DOID:3633 beta-mannosidosis ISO RGD:1604997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 8979867 Slc9b2 solute carrier family 9 member B2 gene DOID:630 genetic disease ISO RGD:1604997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0050692 Brody myopathy ISO RGD:731640 D RGD:7240710 20180130 OMIM 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0050692 Brody myopathy ISO RGD:731640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:10914677|PMID:15083169|PMID:16199547|PMID:17576681|PMID:17882224|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23757202|PMID:23911890|PMID:24033266|PMID:24707176|PMID:25614869|PMID:25741868|PMID:26248958|PMID:26467025|PMID:28492532|PMID:30688039|PMID:30996034|PMID:32040565|PMID:8841193|PMID:9367679|PMID:9536098 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb ISO RGD:731640 D RGD:8554872 20231226 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:731640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:5419 schizophrenia ISO RGD:731640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:6000 congestive heart failure ISO RGD:731640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776660 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:630 genetic disease ISO RGD:731640 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:621293 D RGD:9068941 20200609 RGD protein:decreased expression:tail, skeletal muscle PMID:21930674|REF_RGD_ID:13782071 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9004484 Sepsis ISO RGD:621293 D RGD:9068941 20200609 RGD PMID:28446393|REF_RGD_ID:13782063 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621293 D RGD:9068941 20200609 RGD PMID:28483572|REF_RGD_ID:12910731 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9007346 Cachexia ISO RGD:621293 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma PMID:23200745|REF_RGD_ID:13782066 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:621293 D RGD:9068941 20200609 RGD PMID:17630344|REF_RGD_ID:13782075 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9009207 Alcohol Myopathy ISO RGD:621293 D RGD:9068941 20200609 RGD PMID:14506614|REF_RGD_ID:1581765 8979912 Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621293 D RGD:9068941 20200609 RGD PMID:22009485|REF_RGD_ID:6771327 8979945 Yipf6 Yip1 domain family member 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8979945 Yipf6 Yip1 domain family member 6 gene DOID:12849 autistic disorder ISO RGD:1605821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8979945 Yipf6 Yip1 domain family member 6 gene DOID:630 genetic disease ISO RGD:1605821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1342978 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:0050476 Barth syndrome ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1342978 D RGD:7240710 20180130 OMIM 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1342978 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency PMID:10480214|PMID:11326334|PMID:11748843|PMID:11898126|PMID:11968085|PMID:12536364|PMID:12544242|PMID:12889669|PMID:15154114|PMID:15351775|PMID:15689435|PMID:15690373|PMID:15857409|PMID:16080119|PMID:16086185|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:16738945|PMID:17088400|PMID:17101918|PMID:17172942|PMID:17465020|PMID:17553121|PMID:17576681|PMID:18047645|PMID:18414213|PMID:18925426|PMID:19188083|PMID:19396829|PMID:19763152|PMID:19846429|PMID:20307669|PMID:20717164|PMID:20730588|PMID:21140503|PMID:21267006|PMID:21556832|PMID:21660517|PMID:21836662|PMID:21910234|PMID:22281021|PMID:22382802|PMID:22406018|PMID:22578097|PMID:22644605|PMID:22659343|PMID:23220634|PMID:23234264|PMID:23408511|PMID:23409742|PMID:23644449|PMID:23660394|PMID:24190795|PMID:24365856|PMID:24962355|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25803912|PMID:25861866|PMID:26467025|PMID:26471271|PMID:26930212|PMID:27408820|PMID:28065824|PMID:28492532|PMID:29334594|PMID:29429461|PMID:30885608|PMID:32207963|PMID:32434645|PMID:32860008|PMID:33624935|PMID:34395220|PMID:9384614|PMID:9536098 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1342978 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:0112003 immunodeficiency 33 ISO RGD:1342978 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1342978 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome PMID:24011989 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:10588 adrenoleukodystrophy ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:1059 intellectual disability ISO RGD:1342978 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11326334|PMID:12536364|PMID:12544242|PMID:16199547|PMID:19188083|PMID:22281021|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30885608|PMID:32207963|PMID:33624935 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:1059 intellectual disability susceptibility ISO RGD:1342978 D RGD:9068941 20200609 RGD DNA:point mutation: ; 1141G>C PMID:11898126|REF_RGD_ID:1600037 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:12849 autistic disorder ISO RGD:1342978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:13628 favism ISO RGD:1342978 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:1824 status epilepticus ISO RGD:619711 D RGD:9068941 20200609 RGD PMID:20979657|REF_RGD_ID:11565113 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:1826 epilepsy ISO RGD:1342978 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:2729 dyskeratosis congenita ISO RGD:1342978 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:607 paraplegia ISO RGD:1342978 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:630 genetic disease ISO RGD:1342978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11326334|PMID:12536364|PMID:12544242|PMID:15154114|PMID:16199547|PMID:16738945|PMID:17465020|PMID:18414213|PMID:20717164|PMID:21910234|PMID:22281021|PMID:25741868|PMID:25861866|PMID:26467025|PMID:28492532|PMID:34395220 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:9002720 Splenomegaly ISO RGD:1342978 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1342978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18350323 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1342978 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11326334 8979961 Slc6a8 solute carrier family 6 member 8 gene DOID:9008582 Developmental Disease ISO RGD:1342978 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8979990 Mgst2 microsomal glutathione S-transferase 2 gene DOID:630 genetic disease ISO RGD:1322562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980015 Sec14l1 SEC14 like lipid binding 1 gene DOID:630 genetic disease ISO RGD:1320418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980015 Sec14l1 SEC14 like lipid binding 1 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1320418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 8980145 Lhx3 LIM homeobox 3 gene DOID:0060224 atrial fibrillation ISO RGD:1352685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 8980145 Lhx3 LIM homeobox 3 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 8980145 Lhx3 LIM homeobox 3 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1352685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 8980145 Lhx3 LIM homeobox 3 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1352685 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 8980145 Lhx3 LIM homeobox 3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8980145 Lhx3 LIM homeobox 3 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1352685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8980145 Lhx3 LIM homeobox 3 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1352685 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8980145 Lhx3 LIM homeobox 3 gene DOID:0081097 Rafiq syndrome ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8980145 Lhx3 LIM homeobox 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1352685 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8980145 Lhx3 LIM homeobox 3 gene DOID:13938 amenorrhea ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 8980145 Lhx3 LIM homeobox 3 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8980145 Lhx3 LIM homeobox 3 gene DOID:3652 Leigh disease ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8980145 Lhx3 LIM homeobox 3 gene DOID:630 genetic disease ISO RGD:1352685 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29261175|PMID:30262920|PMID:32870266 8980145 Lhx3 LIM homeobox 3 gene DOID:9003666 Combined Pituitary Hormone Deficiency ISO RGD:1352685 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:16940453|PMID:25741868|PMID:28492532 8980145 Lhx3 LIM homeobox 3 gene DOID:9004924 Combined Pituitary Hormone Deficiency, 3 ISO RGD:1352685 D RGD:7240710 20180130 OMIM 8980145 Lhx3 LIM homeobox 3 gene DOID:9004924 Combined Pituitary Hormone Deficiency, 3 ISO RGD:1352685 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome PMID:10835633|PMID:12780757|PMID:16199547|PMID:16394081|PMID:16940453|PMID:17327381|PMID:17438671|PMID:18407919|PMID:19837867|PMID:21249393|PMID:22286346|PMID:25741868|PMID:28492532|PMID:29261175|PMID:30262920|PMID:32870266 8980145 Lhx3 LIM homeobox 3 gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:28492532 8980145 Lhx3 LIM homeobox 3 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1352685 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 8980145 Lhx3 LIM homeobox 3 gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive 8980145 Lhx3 LIM homeobox 3 gene DOID:9406 hypopituitarism ISO RGD:736998 D RGD:9068941 20220825 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 8980145 Lhx3 LIM homeobox 3 gene DOID:9410 panhypopituitarism ISO RGD:1352685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:16940453|PMID:25741868|PMID:28492532 8980154 Vegfd vascular endothelial growth factor D gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8980154 Vegfd vascular endothelial growth factor D gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:731830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 8980154 Vegfd vascular endothelial growth factor D gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731830 D RGD:9068941 20200609 RGD PMID:17970053|REF_RGD_ID:2315479 8980154 Vegfd vascular endothelial growth factor D gene DOID:12849 autistic disorder ISO RGD:731830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8980154 Vegfd vascular endothelial growth factor D gene DOID:13636 Fanconi anemia ISO RGD:731830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 8980154 Vegfd vascular endothelial growth factor D gene DOID:3319 lymphangioleiomyomatosis ISO RGD:731830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20038814 8980154 Vegfd vascular endothelial growth factor D gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:731830 D RGD:9068941 20221027 RGD protein:increased expression:blood serum (human) PMID:21410412|REF_RGD_ID:155630646 8980154 Vegfd vascular endothelial growth factor D gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:731830 D RGD:9068941 20200609 RGD PMID:18343598|REF_RGD_ID:2315478 8980154 Vegfd vascular endothelial growth factor D gene DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ISO RGD:731830 D RGD:9068941 20221027 RGD protein:increased expression:blood serum (human) PMID:21410412|REF_RGD_ID:155630646 8980154 Vegfd vascular endothelial growth factor D gene DOID:9000081 Lymphatic Metastasis ISO RGD:731830 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17951197|REF_RGD_ID:2315480 8980154 Vegfd vascular endothelial growth factor D gene DOID:9000081 Lymphatic Metastasis ISO RGD:731830 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:19589137|REF_RGD_ID:2315475 8980154 Vegfd vascular endothelial growth factor D gene DOID:9004009 Reperfusion Injury ISO RGD:731830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 8980154 Vegfd vascular endothelial growth factor D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8980172 Rbm15 RNA binding motif protein 15 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1343999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 8980172 Rbm15 RNA binding motif protein 15 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1343999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8980172 Rbm15 RNA binding motif protein 15 gene DOID:12849 autistic disorder ISO RGD:1343999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8980172 Rbm15 RNA binding motif protein 15 gene DOID:630 genetic disease ISO RGD:1343999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980172 Rbm15 RNA binding motif protein 15 gene DOID:769 neuroblastoma ISO RGD:1343999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 8980186 Pdia6 protein disulfide isomerase family A member 6 gene DOID:630 genetic disease ISO RGD:1354298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980202 Tc2n tandem C2 domains, nuclear gene DOID:0080054 achondrogenesis type IA ISO RGD:1349748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8980202 Tc2n tandem C2 domains, nuclear gene DOID:630 genetic disease ISO RGD:1349748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980221 Igsf21 immunoglobin superfamily member 21 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602849 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8980221 Igsf21 immunoglobin superfamily member 21 gene DOID:11054 urinary bladder cancer ISO RGD:1602849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 8980221 Igsf21 immunoglobin superfamily member 21 gene DOID:630 genetic disease ISO RGD:1602849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980260 Vcf2 VCP nuclear cofactor family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8980260 Vcf2 VCP nuclear cofactor family member 2 gene DOID:12849 autistic disorder ISO RGD:1353979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8980260 Vcf2 VCP nuclear cofactor family member 2 gene DOID:630 genetic disease ISO RGD:1353979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980275 Fryl FRY like transcription coactivator gene DOID:630 genetic disease ISO RGD:1352555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980354 Vps25 vacuolar protein sorting 25 homolog gene DOID:0080600 COVID-19 ISO RGD:1603949 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8980354 Vps25 vacuolar protein sorting 25 homolog gene DOID:630 genetic disease ISO RGD:1603949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980364 Rab3b RAB3B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980375 LOC102023622 histone H1oo gene DOID:0111947 immunodeficiency 21 ISO RGD:1347696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8980375 LOC102023622 histone H1oo gene DOID:630 genetic disease ISO RGD:1347696 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980375 LOC102023622 histone H1oo gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347696 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8980375 LOC102023622 histone H1oo gene DOID:9270 alkaptonuria ISO RGD:1347696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8980382 Igsf22 immunoglobulin superfamily member 22 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1601807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 8980382 Igsf22 immunoglobulin superfamily member 22 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1601807 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8980382 Igsf22 immunoglobulin superfamily member 22 gene DOID:1059 intellectual disability ISO RGD:1601807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8980382 Igsf22 immunoglobulin superfamily member 22 gene DOID:630 genetic disease ISO RGD:1601807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980401 Dnajc11 DnaJ heat shock protein family (Hsp40) member C11 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1317094 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8980401 Dnajc11 DnaJ heat shock protein family (Hsp40) member C11 gene DOID:630 genetic disease ISO RGD:1317094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980401 Dnajc11 DnaJ heat shock protein family (Hsp40) member C11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8980422 Lbx2 ladybird homeobox 2 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1347358 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8980422 Lbx2 ladybird homeobox 2 gene DOID:543 dystonia ISO RGD:1347358 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8980422 Lbx2 ladybird homeobox 2 gene DOID:630 genetic disease ISO RGD:1347358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980422 Lbx2 ladybird homeobox 2 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1347358 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:0111227 chromosome 3-linked frontotemporal dementia ISO RGD:1603668 D RGD:7240710 20180130 OMIM 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:0111227 chromosome 3-linked frontotemporal dementia ISO RGD:1603668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 PMID:16041373|PMID:16431024|PMID:16807408|PMID:16941655|PMID:16954699|PMID:17576681|PMID:17956895|PMID:20301378|PMID:20352044|PMID:20592581|PMID:20625756|PMID:21222599|PMID:22521643|PMID:22527221|PMID:23155438|PMID:25558820|PMID:25741868|PMID:26467025|PMID:26777436|PMID:26836416|PMID:28166811|PMID:28430856|PMID:28492532|PMID:29411640|PMID:29431110|PMID:29486463|PMID:29525180|PMID:30054184|PMID:30766798|PMID:32638105|PMID:9536098 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16807408 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1603668 D RGD:9068941 20200609 RGD DNA:mutations:cds:Q206H, I29V (human) PMID:16807408|REF_RGD_ID:5688711 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:630 genetic disease ISO RGD:1603668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:8725 vascular dementia ISO RGD:1603668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17956895 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1603668 D RGD:9068941 20200609 RGD PMID:22366797|REF_RGD_ID:5688397 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:9002031 Frontotemporal Lobar Degeneration no_association ISO RGD:1603668 D RGD:9068941 20200609 RGD PMID:20412296|REF_RGD_ID:5688712 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:9005344 Combined Pituitary Hormone Deficiency 1 ISO RGD:1603668 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:25741868|PMID:26467025 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:9008340 Combined Pituitary Hormone Deficiency, 2 ISO RGD:1603668 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive PMID:25741868|PMID:26467025|PMID:28492532 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:9255 frontotemporal dementia ISO RGD:1603668 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26467025|PMID:28492532 8980427 Chmp2b charged multivesicular body protein 2B gene DOID:9255 frontotemporal dementia no_association ISO RGD:1603668 D RGD:9068941 20200609 RGD PMID:16979267|REF_RGD_ID:5688721 8980438 CUNH20orf144 chromosome unknown C20orf144 homolog gene DOID:2843 long QT syndrome ISO RGD:1348206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8980438 CUNH20orf144 chromosome unknown C20orf144 homolog gene DOID:630 genetic disease ISO RGD:1348206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980444 Micu1 mitochondrial calcium uptake 1 gene DOID:0080000 muscular disease ISO RGD:1353540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 8980444 Micu1 mitochondrial calcium uptake 1 gene DOID:0080600 COVID-19 ISO RGD:1353540 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8980444 Micu1 mitochondrial calcium uptake 1 gene DOID:0111335 myopathy with extrapyramidal signs ISO RGD:1353540 D RGD:7240710 20180130 OMIM 8980444 Micu1 mitochondrial calcium uptake 1 gene DOID:0111335 myopathy with extrapyramidal signs ISO RGD:1353540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Proximal myopathy with extrapyramidal signs PMID:16199547|PMID:24033266|PMID:24336167|PMID:25741868|PMID:27159402|PMID:28492532|PMID:28708303|PMID:29721912|PMID:31618753|PMID:32395406|PMID:33428302 8980444 Micu1 mitochondrial calcium uptake 1 gene DOID:480 movement disease ISO RGD:1353540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 8980444 Micu1 mitochondrial calcium uptake 1 gene DOID:630 genetic disease ISO RGD:1353540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28708303 8980444 Micu1 mitochondrial calcium uptake 1 gene DOID:679 basal ganglia disease ISO RGD:1353540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 8980444 Micu1 mitochondrial calcium uptake 1 gene DOID:8927 learning disability ISO RGD:1353540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24336167 8980444 Micu1 mitochondrial calcium uptake 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24336167|PMID:25741868|PMID:28492532|PMID:28708303|PMID:33969448 8980444 Micu1 mitochondrial calcium uptake 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1353540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:24336167|PMID:25741868|PMID:28492532|PMID:29721912|PMID:33428302 8980485 Aprg1 APRG1 tumor suppressor candidate gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1605538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8980497 Parl presenilin associated rhomboid like gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1314669 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8980497 Parl presenilin associated rhomboid like gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1314669 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8980497 Parl presenilin associated rhomboid like gene DOID:0111546 Currarino syndrome ISO RGD:1314669 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8980497 Parl presenilin associated rhomboid like gene DOID:1024 leprosy ISO RGD:1314669 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 8980497 Parl presenilin associated rhomboid like gene DOID:11830 myopia ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:snp:intron:c.511+3941G>A (rs6775202)(human) PMID:18846214|REF_RGD_ID:12902630 8980497 Parl presenilin associated rhomboid like gene DOID:2018 hyperinsulinism ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L262V (human) PMID:15729572|REF_RGD_ID:12880443 8980497 Parl presenilin associated rhomboid like gene DOID:2018 hyperinsulinism no_association ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L262V (human) PMID:19185381|REF_RGD_ID:12880445 8980497 Parl presenilin associated rhomboid like gene DOID:224 transient cerebral ischemia severity ISO RGD:1550418 D RGD:9068941 20200609 RGD PMID:23921894|REF_RGD_ID:12902620 8980497 Parl presenilin associated rhomboid like gene DOID:3393 coronary artery disease susceptibility ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L262V (human) PMID:18758826|REF_RGD_ID:12902623 8980497 Parl presenilin associated rhomboid like gene DOID:3459 breast carcinoma severity ISO RGD:1314669 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:24185965|REF_RGD_ID:12902629 8980497 Parl presenilin associated rhomboid like gene DOID:3652 Leigh disease ISO RGD:1550418 D RGD:9068941 20220825 MouseDO OMIM:220111 | OMIM:256000 8980497 Parl presenilin associated rhomboid like gene DOID:630 genetic disease ISO RGD:1314669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980497 Parl presenilin associated rhomboid like gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) PMID:20407791|REF_RGD_ID:12902617 8980497 Parl presenilin associated rhomboid like gene DOID:705 Leber hereditary optic neuropathy no_association ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) PMID:20711738|REF_RGD_ID:12902618 8980497 Parl presenilin associated rhomboid like gene DOID:9007346 Cachexia ISO RGD:1550418 D RGD:9068941 20200609 RGD PMID:16839884|REF_RGD_ID:12902627 8980497 Parl presenilin associated rhomboid like gene DOID:9007692 Insulin Resistance ISO RGD:1306191 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius (rat) PMID:19859837|REF_RGD_ID:12880442 8980497 Parl presenilin associated rhomboid like gene DOID:9352 type 2 diabetes mellitus ISO RGD:1314669 D RGD:9068941 20200609 RGD mRNA:decreased expression:vastus lateralis (human) PMID:20444421|REF_RGD_ID:12902628 8980497 Parl presenilin associated rhomboid like gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1314669 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L262V (human) PMID:19185381|REF_RGD_ID:12880445 8980514 Slc44a1 solute carrier family 44 member 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1352703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 8980514 Slc44a1 solute carrier family 44 member 1 gene DOID:3070 high grade glioma ISO RGD:1352703 D RGD:9068941 20200609 RGD DNA:gene fusion: : PMID:26671581|REF_RGD_ID:11087038 8980514 Slc44a1 solute carrier family 44 member 1 gene DOID:630 genetic disease ISO RGD:1352703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980514 Slc44a1 solute carrier family 44 member 1 gene DOID:9002043 Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline ISO RGD:1352703 D RGD:7240710 20200805 OMIM 8980514 Slc44a1 solute carrier family 44 member 1 gene DOID:9002043 Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline ISO RGD:1352703 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline PMID:25741868|PMID:28097321|PMID:31855247 8980514 Slc44a1 solute carrier family 44 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8980547 Myof myoferlin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:1343142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:24206907|PMID:28492532 8980547 Myof myoferlin gene DOID:0080600 COVID-19 ISO RGD:1343142 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8980547 Myof myoferlin gene DOID:630 genetic disease ISO RGD:1343142 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8980547 Myof myoferlin gene DOID:9003195 Hereditary Angioedema 7 ISO RGD:1343142 D RGD:7240710 20210616 OMIM 8980547 Myof myoferlin gene DOID:9003195 Hereditary Angioedema 7 ISO RGD:1343142 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 7 | ClinVar Annotator: match by term: MYOF-related condition PMID:25741868|PMID:32542751 8980606 Fsd2 fibronectin type III and SPRY domain containing 2 gene DOID:13938 amenorrhea ISO RGD:1346005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8980606 Fsd2 fibronectin type III and SPRY domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1346005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8980606 Fsd2 fibronectin type III and SPRY domain containing 2 gene DOID:630 genetic disease ISO RGD:1346005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980606 Fsd2 fibronectin type III and SPRY domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1346005 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8980623 Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:1059 intellectual disability ISO RGD:1343433 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 8980623 Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:1826 epilepsy ISO RGD:1343433 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8980623 Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:630 genetic disease ISO RGD:1343433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980623 Mdga2 MAM domain containing glycosylphosphatidylinositol anchor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343433 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8980648 Pold3 DNA polymerase delta 3, accessory subunit gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1323795 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8980648 Pold3 DNA polymerase delta 3, accessory subunit gene DOID:1059 intellectual disability ISO RGD:1323795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8980648 Pold3 DNA polymerase delta 3, accessory subunit gene DOID:630 genetic disease ISO RGD:1323795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980648 Pold3 DNA polymerase delta 3, accessory subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634755|PMID:30510241 8980669 Hapstr1 HUWE1 associated protein modifying stress responses gene DOID:0060174 GABA aminotransferase deficiency ISO RGD:1606021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:28492532 8980669 Hapstr1 HUWE1 associated protein modifying stress responses gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1606021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 8980669 Hapstr1 HUWE1 associated protein modifying stress responses gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1606021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 8980669 Hapstr1 HUWE1 associated protein modifying stress responses gene DOID:5812 MHC class II deficiency ISO RGD:1606021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8980676 Ccn6 cellular communication network factor 6 gene DOID:0090004 progressive pseudorheumatoid arthropathy of childhood ISO RGD:1345324 D RGD:7240710 20180130 OMIM 8980676 Ccn6 cellular communication network factor 6 gene DOID:0090004 progressive pseudorheumatoid arthropathy of childhood ISO RGD:1345324 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Progressive pseudorheumatoid dysplasia PMID:10471507|PMID:16152649|PMID:21528827|PMID:21993478|PMID:22791401|PMID:22987568|PMID:23270760|PMID:23424195|PMID:25738435|PMID:25741868|PMID:25794430|PMID:25988854|PMID:27291587|PMID:27436824|PMID:28210640|PMID:28492532|PMID:29092958|PMID:29258992|PMID:29620724|PMID:30408610|PMID:32382396|PMID:34008892 8980676 Ccn6 cellular communication network factor 6 gene DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda ISO RGD:1345324 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive spondyloepiphyseal dysplasia tarda PMID:10471507|PMID:22791401|PMID:25741868|PMID:28492532|PMID:29258992 8980676 Ccn6 cellular communication network factor 6 gene DOID:381 arthropathy ISO RGD:1345324 D RGD:9068941 20200609 RGD PPAC, OMIM:208230 PMID:10471507|REF_RGD_ID:1599850 8980676 Ccn6 cellular communication network factor 6 gene DOID:4680 breast metaplastic carcinoma ISO RGD:1622848 D RGD:9068941 20220825 MouseDO 8980676 Ccn6 cellular communication network factor 6 gene DOID:630 genetic disease ISO RGD:1345324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22791401|PMID:22987568|PMID:23270760|PMID:23424195|PMID:25741868|PMID:25988854|PMID:27436824 8980698 Slc25a14 solute carrier family 25 member 14 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8980698 Slc25a14 solute carrier family 25 member 14 gene DOID:12849 autistic disorder ISO RGD:736693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8980722 Dennd11 DENN domain containing 11 gene DOID:0080690 RASopathy ISO RGD:1603618 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8980722 Dennd11 DENN domain containing 11 gene DOID:630 genetic disease ISO RGD:1603618 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980737 Dgkg diacylglycerol kinase gamma gene DOID:630 genetic disease ISO RGD:733742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980768 Ppp1r3a protein phosphatase 1 regulatory subunit 3A gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1343572 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:7581368 8980768 Ppp1r3a protein phosphatase 1 regulatory subunit 3A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8980768 Ppp1r3a protein phosphatase 1 regulatory subunit 3A gene DOID:630 genetic disease ISO RGD:1343572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980768 Ppp1r3a protein phosphatase 1 regulatory subunit 3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8980768 Ppp1r3a protein phosphatase 1 regulatory subunit 3A gene DOID:9007692 Insulin Resistance ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, susceptibility to PMID:25741868|PMID:7581368 8980768 Ppp1r3a protein phosphatase 1 regulatory subunit 3A gene DOID:9351 diabetes mellitus ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:12118251|PMID:25741868|PMID:28492532 8980768 Ppp1r3a protein phosphatase 1 regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343572 D RGD:7240710 20190315 OMIM 8980768 Ppp1r3a protein phosphatase 1 regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1343572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Insulin resistance, severe, digenic | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12118251|PMID:25741868|PMID:7581368 8980768 Ppp1r3a protein phosphatase 1 regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1343572 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.D905Y (human) PMID:10868947|PMID:9653600|REF_RGD_ID:2311515|REF_RGD_ID:2311552 8980768 Ppp1r3a protein phosphatase 1 regulatory subunit 3A gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:1343572 D RGD:9068941 20200609 RGD DNA:insertion/deletion PMID:12831406|REF_RGD_ID:2311596 8980768 Ppp1r3a protein phosphatase 1 regulatory subunit 3A gene DOID:9993 hypoglycemia ISO RGD:1343572 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human) PMID:9814479|REF_RGD_ID:1601469 8980780 Ndfip2 Nedd4 family interacting protein 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1320205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8980780 Ndfip2 Nedd4 family interacting protein 2 gene DOID:630 genetic disease ISO RGD:1320205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980792 Tra2b transformer 2 beta homolog gene DOID:0080600 COVID-19 ISO RGD:732515 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8980792 Tra2b transformer 2 beta homolog gene DOID:4448 macular degeneration ISO RGD:732515 D RGD:9068941 20200609 RGD protein:increased expression:retina (human) PMID:24098751|REF_RGD_ID:11038792 8980792 Tra2b transformer 2 beta homolog gene DOID:630 genetic disease ISO RGD:732515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980792 Tra2b transformer 2 beta homolog gene DOID:678 progressive supranuclear palsy ISO RGD:732515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25402454 8980809 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1347416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 8980809 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1347416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8980809 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1551964 D RGD:9068941 20220825 MouseDO OMIM:259420 8980809 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:1551964 D RGD:9068941 20220825 MouseDO OMIM:166210 8980809 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:12347 osteogenesis imperfecta ISO RGD:1551964 D RGD:9068941 20220825 MouseDO 8980809 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:1240 leukemia ISO RGD:1347416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283525 8980809 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:224 transient cerebral ischemia ISO RGD:619754 D RGD:9068941 20200609 RGD PMID:24007266|REF_RGD_ID:9588303 8980809 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:619754 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:20448054|REF_RGD_ID:10041059 8980809 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:630 genetic disease ISO RGD:1347416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980809 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:619754 D RGD:9068941 20200609 RGD PMID:19088082|REF_RGD_ID:10042965 8980809 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:9406 hypopituitarism ISO RGD:1551964 D RGD:9068941 20220825 MouseDO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 8980809 Smpd3 sphingomyelin phosphodiesterase 3 gene DOID:9675 pulmonary emphysema ISO RGD:1347416 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:20448054|REF_RGD_ID:10041059 8980830 Plekhs1 pleckstrin homology domain containing S1 gene DOID:10603 glucose intolerance ISO RGD:1559884 D RGD:9068941 20200609 RGD associated with obesity; PMID:27523322|REF_RGD_ID:11532750 8980830 Plekhs1 pleckstrin homology domain containing S1 gene DOID:14566 disease of cellular proliferation ISO RGD:1344870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 8980830 Plekhs1 pleckstrin homology domain containing S1 gene DOID:630 genetic disease ISO RGD:1344870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980830 Plekhs1 pleckstrin homology domain containing S1 gene DOID:9007692 Insulin Resistance ISO RGD:1559884 D RGD:9068941 20200609 RGD associated with obesity; PMID:27523322|REF_RGD_ID:11532750 8980889 Nvl nuclear VCP like gene DOID:1540 parathyroid carcinoma ISO RGD:1322636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8980889 Nvl nuclear VCP like gene DOID:630 genetic disease ISO RGD:1322636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980889 Nvl nuclear VCP like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8980917 Acss1 acyl-CoA synthetase short chain family member 1 gene DOID:630 genetic disease ISO RGD:1314754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980917 Acss1 acyl-CoA synthetase short chain family member 1 gene DOID:9002395 Hypothermia ISO RGD:1615097 D RGD:9068941 20200609 RGD PMID:19187775|REF_RGD_ID:13831305 8980917 Acss1 acyl-CoA synthetase short chain family member 1 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1314754 D RGD:9068941 20200609 RGD PMID:27539851|REF_RGD_ID:13831304 8980938 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1316223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8980938 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1316223 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8980938 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1316223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8980938 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:12177 common variable immunodeficiency ISO RGD:1316223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8980938 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:2729 dyskeratosis congenita ISO RGD:1316223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8980938 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1316223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8980938 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1316223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8980938 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:630 genetic disease ISO RGD:1316223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980938 Zbtb4 zinc finger and BTB domain containing 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8980956 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8980956 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1322768 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8980956 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8980956 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:630 genetic disease ISO RGD:1322768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980956 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1311354 D RGD:9068941 20200609 RGD associated with obesity PMID:20729114|REF_RGD_ID:13801195 8980956 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322768 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8980956 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9870 galactosemia ISO RGD:1322768 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8980956 Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 gene DOID:9970 obesity ISO RGD:1311354 D RGD:9068941 20200609 RGD mRNA:decreased expression:epididymal fat pad PMID:20559011|REF_RGD_ID:13822707 8980964 Hes6 hes family bHLH transcription factor 6 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1323828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8980964 Hes6 hes family bHLH transcription factor 6 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1323828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8980964 Hes6 hes family bHLH transcription factor 6 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1323828 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8980964 Hes6 hes family bHLH transcription factor 6 gene DOID:1059 intellectual disability ISO RGD:1323828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8980964 Hes6 hes family bHLH transcription factor 6 gene DOID:630 genetic disease ISO RGD:1323828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8980964 Hes6 hes family bHLH transcription factor 6 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1323828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8980969 Slc35d1 solute carrier family 35 member D1 gene DOID:0050775 schneckenbecken dysplasia ISO RGD:1320404 D RGD:7240710 20180130 OMIM 8980969 Slc35d1 solute carrier family 35 member D1 gene DOID:0050775 schneckenbecken dysplasia ISO RGD:1320404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schneckenbecken dysplasia PMID:16199547|PMID:17576681|PMID:17952091|PMID:19508970|PMID:25741868|PMID:28492532|PMID:9536098 8980969 Slc35d1 solute carrier family 35 member D1 gene DOID:1059 intellectual disability ISO RGD:1320404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8980969 Slc35d1 solute carrier family 35 member D1 gene DOID:630 genetic disease ISO RGD:1320404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8980969 Slc35d1 solute carrier family 35 member D1 gene DOID:65 connective tissue disease ISO RGD:1320404 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 8980969 Slc35d1 solute carrier family 35 member D1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 8980989 Slc13a3 solute carrier family 13 member 3 gene DOID:10283 prostate cancer ISO RGD:69657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:23265383|PMID:25741868|PMID:28492532 8980989 Slc13a3 solute carrier family 13 member 3 gene DOID:2234 focal epilepsy ISO RGD:69657 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8980989 Slc13a3 solute carrier family 13 member 3 gene DOID:630 genetic disease ISO RGD:69657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8980989 Slc13a3 solute carrier family 13 member 3 gene DOID:9000912 Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate ISO RGD:69657 D RGD:7240710 20200415 OMIM 8980989 Slc13a3 solute carrier family 13 member 3 gene DOID:9000912 Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate ISO RGD:69657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate PMID:17576681|PMID:23265383|PMID:25741868|PMID:28492532|PMID:30635937|PMID:9536098 8981012 Btbd10 BTB domain containing 10 gene DOID:1059 intellectual disability ISO RGD:1601947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8981012 Btbd10 BTB domain containing 10 gene DOID:630 genetic disease ISO RGD:1601947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981040 Tchp trichoplein keratin filament binding gene DOID:630 genetic disease ISO RGD:1604269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981060 Smarca5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:1059 intellectual disability ISO RGD:1318831 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability 8981060 Smarca5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:630 genetic disease ISO RGD:1318831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981060 Smarca5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:9007661 Dwarfism ISO RGD:1318831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8981060 Smarca5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1318831 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 8981091 Emilin1 elastin microfibril interfacer 1 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1322548 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arterial tortuosity PMID:28492532|PMID:36351433 8981091 Emilin1 elastin microfibril interfacer 1 gene DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 ISO RGD:1322548 D RGD:7240710 20221102 OMIM 8981091 Emilin1 elastin microfibril interfacer 1 gene DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 ISO RGD:1322548 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 10 PMID:26462740|PMID:31978608 8981091 Emilin1 elastin microfibril interfacer 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1322548 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8981091 Emilin1 elastin microfibril interfacer 1 gene DOID:10283 prostate cancer ISO RGD:1322548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8981091 Emilin1 elastin microfibril interfacer 1 gene DOID:10763 hypertension ISO RGD:1322549 D RGD:9068941 20200609 RGD PMID:16530041|REF_RGD_ID:1580958 8981091 Emilin1 elastin microfibril interfacer 1 gene DOID:630 genetic disease ISO RGD:1322548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26462740 8981103 Commd2 COMM domain containing 2 gene DOID:0050579 glycogen storage disease XV ISO RGD:1319139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8981103 Commd2 COMM domain containing 2 gene DOID:630 genetic disease ISO RGD:1319139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981117 Slc37a3 solute carrier family 37 member 3 gene DOID:0080690 RASopathy ISO RGD:1321198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8981117 Slc37a3 solute carrier family 37 member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8981117 Slc37a3 solute carrier family 37 member 3 gene DOID:630 genetic disease ISO RGD:1321198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981138 Plek pleckstrin gene DOID:11476 osteoporosis ISO RGD:1317946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8981138 Plek pleckstrin gene DOID:630 genetic disease ISO RGD:1317946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981138 Plek pleckstrin gene DOID:7148 rheumatoid arthritis ISO RGD:1317946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 8981138 Plek pleckstrin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8981152 Abca5 ATP binding cassette subfamily A member 5 gene DOID:630 genetic disease ISO RGD:1300038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24831815 8981152 Abca5 ATP binding cassette subfamily A member 5 gene DOID:9006967 Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia ISO RGD:1300038 D RGD:7240710 20190315 OMIM 8981152 Abca5 ATP binding cassette subfamily A member 5 gene DOID:9006967 Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia ISO RGD:1300038 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis PMID:24831815|PMID:25741868 8981152 Abca5 ATP binding cassette subfamily A member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1300038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8981198 Tet1 tet methylcytosine dioxygenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1322209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 8981198 Tet1 tet methylcytosine dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1322209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981198 Tet1 tet methylcytosine dioxygenase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322209 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:23671639|REF_RGD_ID:9586747 8981221 Rbfox3 RNA binding fox-1 homolog 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1603898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8981221 Rbfox3 RNA binding fox-1 homolog 3 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1603898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 8981221 Rbfox3 RNA binding fox-1 homolog 3 gene DOID:3454 brain infarction ISO RGD:1560070 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 8981221 Rbfox3 RNA binding fox-1 homolog 3 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1560070 D RGD:9068941 20230610 RGD PMID:30531687|REF_RGD_ID:329849008 8981221 Rbfox3 RNA binding fox-1 homolog 3 gene DOID:630 genetic disease ISO RGD:1603898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8981221 Rbfox3 RNA binding fox-1 homolog 3 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1603898 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 8981249 Ogfod2 2-oxoglutarate and iron dependent oxygenase domain containing 2 gene DOID:630 genetic disease ISO RGD:1606222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981267 Slco2a1 solute carrier organic anion transporter family member 2A1 gene DOID:0060041 autism spectrum disorder ISO RGD:736966 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8981267 Slco2a1 solute carrier organic anion transporter family member 2A1 gene DOID:14283 primary hypertrophic osteoarthropathy ISO RGD:736966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8981267 Slco2a1 solute carrier organic anion transporter family member 2A1 gene DOID:630 genetic disease ISO RGD:736966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8981267 Slco2a1 solute carrier organic anion transporter family member 2A1 gene DOID:9000535 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 ISO RGD:736966 D RGD:7240710 20180130 OMIM 8981267 Slco2a1 solute carrier organic anion transporter family member 2A1 gene DOID:9000535 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 ISO RGD:736966 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 PMID:16283874|PMID:22197487|PMID:22331663|PMID:22553128|PMID:22696055|PMID:22906430|PMID:23509104|PMID:24012041|PMID:24153155|PMID:24838973|PMID:24929850|PMID:25741868|PMID:25810087|PMID:26072672|PMID:26539716|PMID:27134495|PMID:28425581|PMID:28492532|PMID:28963081|PMID:29313109|PMID:29987015|PMID:33852188|PMID:37915296 8981267 Slco2a1 solute carrier organic anion transporter family member 2A1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072 8981267 Slco2a1 solute carrier organic anion transporter family member 2A1 gene DOID:9007281 Primary Hypertrophic Osteoarthropathy, Autosomal Dominant ISO RGD:736966 D RGD:7240710 20210707 OMIM 8981267 Slco2a1 solute carrier organic anion transporter family member 2A1 gene DOID:9007281 Primary Hypertrophic Osteoarthropathy, Autosomal Dominant ISO RGD:736966 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal dominant PMID:16283874|PMID:22197487|PMID:22553128|PMID:22906430|PMID:23509104|PMID:24153155|PMID:24838973|PMID:24929850|PMID:25741868|PMID:26539716|PMID:27134495|PMID:28425581|PMID:28492532|PMID:29313109|PMID:33852188 8981267 Slco2a1 solute carrier organic anion transporter family member 2A1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 8981267 Slco2a1 solute carrier organic anion transporter family member 2A1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:736966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8981293 Anapc15 anaphase promoting complex subunit 15 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:1601769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 8981293 Anapc15 anaphase promoting complex subunit 15 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1601769 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8981293 Anapc15 anaphase promoting complex subunit 15 gene DOID:0110515 autosomal recessive nonsyndromic deafness 63 ISO RGD:1601769 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 63 PMID:24033266|PMID:25741868|PMID:25788562|PMID:26467025|PMID:28492532 8981293 Anapc15 anaphase promoting complex subunit 15 gene DOID:1059 intellectual disability ISO RGD:1601769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8981293 Anapc15 anaphase promoting complex subunit 15 gene DOID:630 genetic disease ISO RGD:1601769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 8981293 Anapc15 anaphase promoting complex subunit 15 gene DOID:9004538 Hearing Loss ISO RGD:1601769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 8981339 Gfra2 GDNF family receptor alpha 2 gene DOID:0080855 Parkinsonism ISO RGD:61809 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:12210101|REF_RGD_ID:6218972 8981339 Gfra2 GDNF family receptor alpha 2 gene DOID:630 genetic disease ISO RGD:732295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981339 Gfra2 GDNF family receptor alpha 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:61809 D RGD:9068941 20200609 RGD PMID:15144875|REF_RGD_ID:6218970 8981356 Ppef2 protein phosphatase with EF-hand domain 2 gene DOID:630 genetic disease ISO RGD:1316080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981356 Ppef2 protein phosphatase with EF-hand domain 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8981366 Spmip6 sperm microtubule inner protein 6 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8981366 Spmip6 sperm microtubule inner protein 6 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1322222 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8981366 Spmip6 sperm microtubule inner protein 6 gene DOID:0080942 anauxetic dysplasia ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8981366 Spmip6 sperm microtubule inner protein 6 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8981366 Spmip6 sperm microtubule inner protein 6 gene DOID:630 genetic disease ISO RGD:1322222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981366 Spmip6 sperm microtubule inner protein 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322222 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8981366 Spmip6 sperm microtubule inner protein 6 gene DOID:9870 galactosemia ISO RGD:1322222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8981400 Brap BRCA1 associated protein gene DOID:5844 myocardial infarction ISO RGD:1348068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198608 8981400 Brap BRCA1 associated protein gene DOID:630 genetic disease ISO RGD:1348068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981416 Nxph4 neurexophilin 4 gene DOID:630 genetic disease ISO RGD:736634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981416 Nxph4 neurexophilin 4 gene DOID:6846 familial melanoma ISO RGD:736634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8981421 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:0080600 COVID-19 ISO RGD:1354396 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8981421 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1354396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532|PMID:28832565 8981421 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:2477 motor peripheral neuropathy ISO RGD:1354396 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sensory Neuropathy with Spastic Paraplegia PMID:28492532 8981421 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:3910 lung adenocarcinoma ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8981421 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 8981421 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:630 genetic disease ISO RGD:1354396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8981421 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:9000572 Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive ISO RGD:1354396 D RGD:7240710 20180130 OMIM 8981421 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:9000572 Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive ISO RGD:1354396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive PMID:16399879|PMID:17576681|PMID:25124038|PMID:25345891|PMID:25741868|PMID:28492532|PMID:28623285|PMID:28832565|PMID:29552646|PMID:9536098 8981421 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:9006205 Animal Disease Models ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8981421 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8981421 Cct5 chaperonin containing TCP1 subunit 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1354396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:0060041 autism spectrum disorder ISO RGD:731908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:0060759 immunodeficiency with hyper IgM type 5 ISO RGD:731908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 PMID:28492532 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:620500 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1619056 D RGD:9068941 20230629 RGD PMID:31709908|REF_RGD_ID:329901803 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:630 genetic disease ISO RGD:731908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:9002371 Cardiotoxicity ISO RGD:620500 D RGD:9068941 20230713 RGD mRNA, protein:increased expression:heart (rat) PMID:30644033|REF_RGD_ID:329955369 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:9003139 Cardiac Fibrosis ISO RGD:620500 D RGD:9068941 20230713 RGD mRNA, protein:increased expression:heart (rat) PMID:30644033|REF_RGD_ID:329955369 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:9003631 Diastolic Dysfunction ISO RGD:1619056 D RGD:9068941 20230720 RGD PMID:27693463|REF_RGD_ID:329955570 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:620500 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:9006646 Metabolic Syndrome ISO RGD:1619056 D RGD:9068941 20230427 RGD mRNA:increased expression:liver (mouse) PMID:29684438|REF_RGD_ID:329333017 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:9007692 Insulin Resistance ISO RGD:620500 D RGD:9068941 20200609 RGD PMID:16485039|REF_RGD_ID:1625727 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:9007692 Insulin Resistance ISO RGD:731908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22658938 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:9007692 Insulin Resistance treatment ISO RGD:620500 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:9008939 Breast Neoplasms ISO RGD:731908 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35191604 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:9452 steatotic liver disease ISO RGD:620500 D RGD:9068941 20200609 RGD PMID:16485039|REF_RGD_ID:1625727 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:9970 obesity ISO RGD:731908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8981436 Acacb acetyl-CoA carboxylase beta gene DOID:9970 obesity treatment ISO RGD:620500 D RGD:9068941 20230720 RGD mRNA:increased expression:left ventricle myocardium (rat) PMID:33310031|REF_RGD_ID:329955450 8981493 Nek4 NIMA related kinase 4 gene DOID:0060340 ciliopathy ISO RGD:1312757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliopathy 8981493 Nek4 NIMA related kinase 4 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1312757 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 8981493 Nek4 NIMA related kinase 4 gene DOID:630 genetic disease ISO RGD:1312757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:0080001 bone disease ISO RGD:1346204 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:29428397 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:10283 prostate cancer severity ISO RGD:1346204 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:11204274|REF_RGD_ID:2292571 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:10652 Alzheimer's disease ISO RGD:1346204 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33589840 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:10763 hypertension ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:21068519|REF_RGD_ID:10041072 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:10763 hypertension susceptibility ISO RGD:1346204 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-22A>G PMID:18075463|REF_RGD_ID:2292575 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:10952 nephritis treatment ISO RGD:628758 D RGD:9068941 20200609 RGD PMID:25176084|REF_RGD_ID:10041073 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:11713 diabetic angiopathy treatment ISO RGD:628758 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21926342|REF_RGD_ID:10041069 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:1612 breast cancer ISO RGD:1346204 D RGD:9068941 20200609 RGD DNA:deletion PMID:16457699|REF_RGD_ID:2292558 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:1824 status epilepticus ISO RGD:1346204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16600505 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:1824 status epilepticus ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus, postsynaptic density PMID:16600505|REF_RGD_ID:1581409 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:1909 melanoma ISO RGD:1346204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:2316 brain ischemia ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:cerebral cortex PMID:10964954|REF_RGD_ID:1642647 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:2921 glomerulonephritis ISO RGD:1346204 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:11774117|REF_RGD_ID:729912 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus PMID:11774117|REF_RGD_ID:729912 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:630 genetic disease ISO RGD:1346204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:9002514 Neointima ISO RGD:628758 D RGD:9068941 20200609 RGD associated with Carotid Artery Injuries PMID:22922962|REF_RGD_ID:10041068 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:9004009 Reperfusion Injury ISO RGD:628758 D RGD:9068941 20200609 RGD protein:increased phosphorylation:hippocampus PMID:15970382|REF_RGD_ID:1642621 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:9004464 Skin Neoplasms ISO RGD:1346204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19718025 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:628758 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression, increased phosphorylation:cardiac muscle cell PMID:12124218|REF_RGD_ID:1642607 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:628758 D RGD:9068941 20200609 RGD PMID:17537919|REF_RGD_ID:1642610 8981518 Ptk2b protein tyrosine kinase 2 beta gene DOID:9007692 Insulin Resistance ISO RGD:733599 D RGD:9068941 20200609 RGD associated with Obesity PMID:16039993|REF_RGD_ID:1642605 8981568 Acp1 acid phosphatase 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:SNP: :p.Q105R, 216A>G (human) PMID:12231445|REF_RGD_ID:1358577 8981568 Acp1 acid phosphatase 1 gene DOID:12995 conduct disorder ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Tourette Syndrome;DNA:SNP: :p.Q105R, 216A>G (human) PMID:12231445|REF_RGD_ID:1358577 8981568 Acp1 acid phosphatase 1 gene DOID:3393 coronary artery disease ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:19246900|REF_RGD_ID:2313179 8981568 Acp1 acid phosphatase 1 gene DOID:630 genetic disease ISO RGD:10069 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981568 Acp1 acid phosphatase 1 gene DOID:8947 diabetic retinopathy ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:12495297|REF_RGD_ID:2313184 8981568 Acp1 acid phosphatase 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Obesity PMID:12409270|REF_RGD_ID:1625288 8981568 Acp1 acid phosphatase 1 gene DOID:9007692 Insulin Resistance ISO RGD:10068 D RGD:9068941 20200609 RGD associated with Obesity PMID:17353188|REF_RGD_ID:2313180 8981568 Acp1 acid phosphatase 1 gene DOID:9351 diabetes mellitus ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:8620937|REF_RGD_ID:2313188 8981568 Acp1 acid phosphatase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:15281007|REF_RGD_ID:2313183 8981568 Acp1 acid phosphatase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:15586390|REF_RGD_ID:2313182 8981568 Acp1 acid phosphatase 1 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:11912546|REF_RGD_ID:2313186 8981568 Acp1 acid phosphatase 1 gene DOID:9970 obesity ISO RGD:10069 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:9198310|REF_RGD_ID:2313187 8981568 Acp1 acid phosphatase 1 gene DOID:9970 obesity severity ISO RGD:10069 D RGD:9068941 20200609 RGD PMID:2373509|REF_RGD_ID:1625289 8981586 Hint3 histidine triad nucleotide binding protein 3 gene DOID:630 genetic disease ISO RGD:1347010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981595 Ahsp alpha hemoglobin stabilizing protein gene DOID:13133 HELLP syndrome ISO RGD:1315507 D RGD:9068941 20230720 RGD mRNA:decreased expression:placenta (human) PMID:18347943|REF_RGD_ID:329956422 8981595 Ahsp alpha hemoglobin stabilizing protein gene DOID:3526 cerebral infarction ISO RGD:1315507 D RGD:9068941 20230720 RGD mRNA:increased expression:venous blood (human) PMID:29284304|REF_RGD_ID:329961296 8981595 Ahsp alpha hemoglobin stabilizing protein gene DOID:4247 coronary restenosis ISO RGD:1315507 D RGD:9068941 20230720 RGD mRNA:decreased expression:blood (human) PMID:35144391|REF_RGD_ID:329961301 8981595 Ahsp alpha hemoglobin stabilizing protein gene DOID:630 genetic disease ISO RGD:1315507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981595 Ahsp alpha hemoglobin stabilizing protein gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315507 D RGD:9068941 20230720 RGD mRNA:altered expression: (human) PMID:35710932|REF_RGD_ID:329961295 8981595 Ahsp alpha hemoglobin stabilizing protein gene DOID:9001916 Fetal Death ISO RGD:1315507 D RGD:9068941 20230720 RGD mRNA, protein:decreased expression:placenta (human) PMID:18347943|REF_RGD_ID:329956422 8981608 Vsx1 visual system homeobox 1 gene DOID:0060457 posterior polymorphous corneal dystrophy ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:18216574|PMID:18626569|PMID:19763142|PMID:21976959|PMID:22171159|PMID:23592923|PMID:24033266|PMID:25741868|PMID:26879370|PMID:28492532|PMID:7795607 8981608 Vsx1 visual system homeobox 1 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:18216574|PMID:18626569|PMID:19763142|PMID:21976959|PMID:22171159|PMID:23592923|PMID:24033266|PMID:25741868|PMID:26879370|PMID:28492532|PMID:7795607 8981608 Vsx1 visual system homeobox 1 gene DOID:10126 keratoconus ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:23592923|PMID:24033266|PMID:28492532 8981608 Vsx1 visual system homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11978762 8981608 Vsx1 visual system homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1313832 D RGD:9068941 20200609 RGD KTCN1, OMIM:148300, PPCD1, OMIM:122000 PMID:11978762|REF_RGD_ID:1599773 8981608 Vsx1 visual system homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1313832 D RGD:9068941 20200609 RGD associated with Craniofacial Abnormalities;DNA:missense mutations:cds:p.A256S, p.R131S (human) PMID:15051220|REF_RGD_ID:8657029 8981608 Vsx1 visual system homeobox 1 gene DOID:2843 long QT syndrome ISO RGD:1313832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8981608 Vsx1 visual system homeobox 1 gene DOID:3642 empty sella syndrome ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 8981608 Vsx1 visual system homeobox 1 gene DOID:5679 retinal disease ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 8981608 Vsx1 visual system homeobox 1 gene DOID:630 genetic disease ISO RGD:1313832 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8981608 Vsx1 visual system homeobox 1 gene DOID:9000682 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome ISO RGD:1313832 D RGD:7240710 20180130 OMIM 8981608 Vsx1 visual system homeobox 1 gene DOID:9000682 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome ISO RGD:1313832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome PMID:11978762|PMID:15051220|PMID:16303937|PMID:21976959|PMID:25741868|PMID:28492532 8981608 Vsx1 visual system homeobox 1 gene DOID:9002886 Auditory Perceptual Disorders ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 8981608 Vsx1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1313832 D RGD:7240710 20180130 OMIM 8981608 Vsx1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1313832 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratoconus 1 | ClinVar Annotator: match by term: VSX1-related condition PMID:11978762|PMID:15623752|PMID:16303937|PMID:16384943|PMID:18216574|PMID:21976959|PMID:22171159|PMID:25741868|PMID:28492532 8981608 Vsx1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 no_association ISO RGD:1313832 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D144E (human) PMID:17960127|REF_RGD_ID:8657045 8981608 Vsx1 visual system homeobox 1 gene DOID:9003318 Keratoconus 1 no_association ISO RGD:1313832 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L159M, p.R166W, p.H244R (human) PMID:18216574|REF_RGD_ID:8657052 8981608 Vsx1 visual system homeobox 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 8981608 Vsx1 visual system homeobox 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15051220 8981616 CUNH4orf19 chromosome unknown C4orf19 homolog gene DOID:13580 cholestasis ISO RGD:1602474 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8981626 Nol11 nucleolar protein 11 gene DOID:630 genetic disease ISO RGD:1603676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981626 Nol11 nucleolar protein 11 gene DOID:9008086 Developmental Disabilities ISO RGD:1603676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28942966 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:0080422 Dravet syndrome ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:29390993 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:0090031 D-bifunctional protein deficiency ISO RGD:1318809 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DBP deficiency PMID:16385454|PMID:22279524|PMID:23035047|PMID:28492532 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:0111957 immunodeficiency 11A ISO RGD:1318809 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:0112361 spondylocostal dysostosis 3 ISO RGD:1318809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive PMID:28492532 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:1059 intellectual disability ISO RGD:1318809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:26467025|PMID:28492532 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:1826 epilepsy ISO RGD:1318809 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:630 genetic disease ISO RGD:1318809 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16452482|PMID:17576681|PMID:22279524|PMID:23035047|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:30552426|PMID:31345272|PMID:31440721|PMID:32565546|PMID:32964447|PMID:34747546|PMID:35360849|PMID:9536098 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1318809 D RGD:7240710 20180130 OMIM 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal ISO RGD:1318809 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal PMID:16199547|PMID:16452482|PMID:17576681|PMID:19481195|PMID:22279524|PMID:23035047|PMID:25319849|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26870756|PMID:26947546|PMID:26964041|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:29375859|PMID:29390993|PMID:29431110|PMID:29997391|PMID:30346566|PMID:30552426|PMID:31345272|PMID:31440721|PMID:31618474|PMID:31868227|PMID:32139178|PMID:32565546|PMID:32600977|PMID:32964447|PMID:33040300|PMID:34747546|PMID:35360849|PMID:9536098 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318809 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:31440721 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:9006598 Three M Syndrome 2 ISO RGD:1318809 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Three M syndrome 2 PMID:16199547|PMID:19481195|PMID:22279524|PMID:25500575|PMID:25741868|PMID:28492532|PMID:33040300 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1318809 D RGD:7240710 20190315 OMIM 8981652 Brat1 BRCA1 associated ATM activator 1 gene DOID:9009220 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES ISO RGD:1318809 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BRAT1-associated neurodegenerative disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures PMID:16452482|PMID:22279524|PMID:25500575|PMID:25741868|PMID:26467025|PMID:26483087|PMID:26494257|PMID:26535877|PMID:26947546|PMID:26964041|PMID:27282546|PMID:27282648|PMID:27480663|PMID:28492532|PMID:28635423|PMID:28752061|PMID:29375859|PMID:29390993|PMID:30552426|PMID:31345272|PMID:32964447|PMID:34747546|PMID:35360849 8981675 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0111465 combined oxidative phosphorylation deficiency 21 ISO RGD:1344526 D RGD:7240710 20180130 OMIM 8981675 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0111465 combined oxidative phosphorylation deficiency 21 ISO RGD:1344526 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 21 PMID:24827421|PMID:25741868|PMID:28492532|PMID:33153448|PMID:34508595 8981675 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0111940 immunodeficiency 42 ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8981675 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8981675 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8981675 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:10967 spastic hemiplegia ISO RGD:1344526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spastic hemiplegia PMID:25741868 8981675 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:1540 parathyroid carcinoma ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8981675 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:5812 MHC class II deficiency ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8981675 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1344526 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8981675 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:9001276 Failure to Thrive ISO RGD:1344526 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868 8981675 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8981675 Tars2 threonyl-tRNA synthetase 2, mitochondrial gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8981697 Fgf11 fibroblast growth factor 11 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:734211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8981697 Fgf11 fibroblast growth factor 11 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:734211 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8981697 Fgf11 fibroblast growth factor 11 gene DOID:1059 intellectual disability ISO RGD:734211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8981697 Fgf11 fibroblast growth factor 11 gene DOID:12177 common variable immunodeficiency ISO RGD:734211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8981697 Fgf11 fibroblast growth factor 11 gene DOID:2729 dyskeratosis congenita ISO RGD:734211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8981697 Fgf11 fibroblast growth factor 11 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:734211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8981697 Fgf11 fibroblast growth factor 11 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:734211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8981697 Fgf11 fibroblast growth factor 11 gene DOID:630 genetic disease ISO RGD:734211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1321547 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1321547 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:0111996 immunodeficiency 51 ISO RGD:1321547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:1059 intellectual disability ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:11198 DiGeorge syndrome ISO RGD:1321547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:11372 megacolon ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:12583 velocardiofacial syndrome ISO RGD:1321547 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:12849 autistic disorder ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:1826 epilepsy ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:5419 schizophrenia ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:612 primary immunodeficiency disease ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:630 genetic disease ISO RGD:1321547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8981707 Dgcr2 DiGeorge syndrome critical region gene 2 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1321547 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8981739 Scfd2 sec1 family domain containing 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348082 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Autism, susceptiblity to PMID:25741868 8981739 Scfd2 sec1 family domain containing 2 gene DOID:630 genetic disease ISO RGD:1348082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981785 Dmac1 distal membrane arm assembly component 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319327 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8981785 Dmac1 distal membrane arm assembly component 1 gene DOID:630 genetic disease ISO RGD:1319327 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981791 Tnn tenascin N gene DOID:1540 parathyroid carcinoma ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8981791 Tnn tenascin N gene DOID:3755 antithrombin III deficiency ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8981791 Tnn tenascin N gene DOID:630 genetic disease ISO RGD:1314366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981791 Tnn tenascin N gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8981791 Tnn tenascin N gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8981821 Klhl22 kelch like family member 22 gene DOID:0060041 autism spectrum disorder ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8981821 Klhl22 kelch like family member 22 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1602999 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8981821 Klhl22 kelch like family member 22 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1602999 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8981821 Klhl22 kelch like family member 22 gene DOID:1059 intellectual disability ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8981821 Klhl22 kelch like family member 22 gene DOID:11198 DiGeorge syndrome ISO RGD:1602999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8981821 Klhl22 kelch like family member 22 gene DOID:11372 megacolon ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8981821 Klhl22 kelch like family member 22 gene DOID:12583 velocardiofacial syndrome ISO RGD:1602999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8981821 Klhl22 kelch like family member 22 gene DOID:12849 autistic disorder ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8981821 Klhl22 kelch like family member 22 gene DOID:1826 epilepsy ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8981821 Klhl22 kelch like family member 22 gene DOID:2213 hemorrhagic disease ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 8981821 Klhl22 kelch like family member 22 gene DOID:5419 schizophrenia ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8981821 Klhl22 kelch like family member 22 gene DOID:612 primary immunodeficiency disease ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8981821 Klhl22 kelch like family member 22 gene DOID:630 genetic disease ISO RGD:1602999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981821 Klhl22 kelch like family member 22 gene DOID:9003871 Venous Thrombosis ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 8981821 Klhl22 kelch like family member 22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8981849 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1605541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8981849 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:0080600 COVID-19 ISO RGD:1605541 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8981849 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:10283 prostate cancer ISO RGD:1605541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8981849 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:630 genetic disease ISO RGD:1605541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981849 St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1605541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 8981889 Prox2 prospero homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1606668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8981889 Prox2 prospero homeobox 2 gene DOID:630 genetic disease ISO RGD:1606668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981898 Ost4 oligosaccharyltransferase complex subunit 4, non-catalytic gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:3418321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8981898 Ost4 oligosaccharyltransferase complex subunit 4, non-catalytic gene DOID:630 genetic disease ISO RGD:3418321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981905 Kcnk12 potassium two pore domain channel subfamily K member 12 gene DOID:0070271 Lynch syndrome 1 ISO RGD:68984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 8981905 Kcnk12 potassium two pore domain channel subfamily K member 12 gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:68984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 8981905 Kcnk12 potassium two pore domain channel subfamily K member 12 gene DOID:3883 Lynch syndrome ISO RGD:68984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:18269114|PMID:24323032|PMID:24362816|PMID:28135145|PMID:28492532 8981905 Kcnk12 potassium two pore domain channel subfamily K member 12 gene DOID:630 genetic disease ISO RGD:68984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981905 Kcnk12 potassium two pore domain channel subfamily K member 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:68984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24728327|PMID:25741868 8981912 Erg ETS transcription factor ERG gene DOID:1240 leukemia ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19108891 8981912 Erg ETS transcription factor ERG gene DOID:1826 epilepsy ISO RGD:1348469 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8981912 Erg ETS transcription factor ERG gene DOID:5453 pulmonary venoocclusive disease ISO RGD:1348469 D RGD:9068941 20200903 RGD protein:decreased expression:lung PMID:32209028|REF_RGD_ID:38549370 8981912 Erg ETS transcription factor ERG gene DOID:5453 pulmonary venoocclusive disease ISO RGD:621108 D RGD:9068941 20200903 RGD protein:decreased expression:lung PMID:32209028|REF_RGD_ID:38549370 8981912 Erg ETS transcription factor ERG gene DOID:630 genetic disease ISO RGD:1348469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981912 Erg ETS transcription factor ERG gene DOID:8398 osteoarthritis ISO RGD:1550130 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 8981912 Erg ETS transcription factor ERG gene DOID:8692 myeloid leukemia ISO RGD:1348469 D RGD:9068941 20200609 RGD PMID:23719302|REF_RGD_ID:10450751 8981912 Erg ETS transcription factor ERG gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:18798265|PMID:19396168|PMID:25735316|PMID:27223260|PMID:27783944|PMID:28783165 8981912 Erg ETS transcription factor ERG gene DOID:9005590 Lymphatic Malformation 14 ISO RGD:1348469 D RGD:7240710 20231206 OMIM 8981912 Erg ETS transcription factor ERG gene DOID:9005590 Lymphatic Malformation 14 ISO RGD:1348469 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 14 PMID:36928819 8981912 Erg ETS transcription factor ERG gene DOID:9008192 Neoplastic Processes ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 8981912 Erg ETS transcription factor ERG gene DOID:9119 acute myeloid leukemia ISO RGD:1348469 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822134 8981912 Erg ETS transcription factor ERG gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348469 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia PMID:27993330 8981930 Phf10 PHD finger protein 10 gene DOID:630 genetic disease ISO RGD:1313192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8981962 Gatm glycine amidinotransferase gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:731936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lennox-Gastaut syndrome 8981962 Gatm glycine amidinotransferase gene DOID:0050712 AGAT deficiency ISO RGD:731936 D RGD:7240710 20180130 OMIM 8981962 Gatm glycine amidinotransferase gene DOID:0050712 AGAT deficiency ISO RGD:731936 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:10762163|PMID:11555793|PMID:12468279|PMID:16199547|PMID:17576681|PMID:20301745|PMID:20625172|PMID:20682460|PMID:22386973|PMID:23660394|PMID:23770102|PMID:24415674|PMID:25741868|PMID:26003046|PMID:26467025|PMID:26490222|PMID:27233232|PMID:27577545|PMID:28492532|PMID:29654216|PMID:9536098 8981962 Gatm glycine amidinotransferase gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:731936 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:25741868|PMID:29654216 8981962 Gatm glycine amidinotransferase gene DOID:0080757 Fanconi renotubular syndrome 1 ISO RGD:731936 D RGD:7240710 20200701 OMIM 8981962 Gatm glycine amidinotransferase gene DOID:0080757 Fanconi renotubular syndrome 1 ISO RGD:731936 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 | ClinVar Annotator: match by term: GATM-related condition PMID:25741868|PMID:26467025|PMID:28492532|PMID:29654216|PMID:35738466 8981962 Gatm glycine amidinotransferase gene DOID:1059 intellectual disability ISO RGD:731936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24415674|PMID:25741868|PMID:26003046|PMID:26467025|PMID:27233232|PMID:28492532 8981962 Gatm glycine amidinotransferase gene DOID:10591 pre-eclampsia ISO RGD:731936 D RGD:9068941 20230720 RGD mRNA:increased expression:placenta PMID:31991880|REF_RGD_ID:329961300 8981962 Gatm glycine amidinotransferase gene DOID:1062 Fanconi syndrome ISO RGD:731936 D RGD:9068941 20221208 CTD CTD Direct Evidence: marker/mechanism 8981962 Gatm glycine amidinotransferase gene DOID:1826 epilepsy ISO RGD:731936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8981962 Gatm glycine amidinotransferase gene DOID:224 transient cerebral ischemia exacerbates ISO RGD:731937 D RGD:9068941 20230713 RGD DNA:deletion PMID:24004504|REF_RGD_ID:329955375 8981962 Gatm glycine amidinotransferase gene DOID:2717 Bloom syndrome ISO RGD:731936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8981962 Gatm glycine amidinotransferase gene DOID:3021 acute kidney failure ISO RGD:71090 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:2752493|REF_RGD_ID:1599823 8981962 Gatm glycine amidinotransferase gene DOID:305 carcinoma ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8981962 Gatm glycine amidinotransferase gene DOID:557 kidney disease ISO RGD:71090 D RGD:9068941 20230720 RGD PMID:14254587|REF_RGD_ID:329961303 8981962 Gatm glycine amidinotransferase gene DOID:557 kidney disease ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 8981962 Gatm glycine amidinotransferase gene DOID:5844 myocardial infarction ISO RGD:731937 D RGD:9068941 20230720 RGD PMID:31972362|REF_RGD_ID:329961305 8981962 Gatm glycine amidinotransferase gene DOID:6000 congestive heart failure ISO RGD:731936 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:16820567|PMID:36071497 8981962 Gatm glycine amidinotransferase gene DOID:6000 congestive heart failure ISO RGD:731936 D RGD:9068941 20230713 RGD mRNA:increased expression:left ventricle myocardium PMID:16820567|REF_RGD_ID:329955376 8981962 Gatm glycine amidinotransferase gene DOID:630 genetic disease ISO RGD:731936 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24415674|PMID:25741868|PMID:26003046|PMID:26467025|PMID:27233232|PMID:27577545|PMID:28492532|PMID:9536098 8981962 Gatm glycine amidinotransferase gene DOID:7693 abdominal aortic aneurysm ISO RGD:731936 D RGD:9068941 20230720 RGD PMID:22797469|REF_RGD_ID:329961302 8981962 Gatm glycine amidinotransferase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8981962 Gatm glycine amidinotransferase gene DOID:9002165 Diabetic Nephropathies ISO RGD:71090 D RGD:9068941 20230720 RGD PMID:26364511|REF_RGD_ID:329961310 8981962 Gatm glycine amidinotransferase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 8981962 Gatm glycine amidinotransferase gene DOID:9005749 Necrosis ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22061828 8981962 Gatm glycine amidinotransferase gene DOID:9006956 nephrotoxicity ISO RGD:71090 D RGD:9068941 20230720 RGD PMID:15462098|PMID:19664912|REF_RGD_ID:329961309|REF_RGD_ID:329961312 8981962 Gatm glycine amidinotransferase gene DOID:9007102 Myocardial Ischemia ISO RGD:731936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8981962 Gatm glycine amidinotransferase gene DOID:9256 colorectal cancer ISO RGD:731936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8981975 Dennd2a DENN domain containing 2A gene DOID:0080690 RASopathy ISO RGD:1314588 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 8981975 Dennd2a DENN domain containing 2A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8981975 Dennd2a DENN domain containing 2A gene DOID:630 genetic disease ISO RGD:1314588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982017 Shisa9 shisa family member 9 gene DOID:5419 schizophrenia ISO RGD:3160513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8982017 Shisa9 shisa family member 9 gene DOID:630 genetic disease ISO RGD:3160513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982033 Trim42 tripartite motif containing 42 gene DOID:630 genetic disease ISO RGD:1353293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982042 M6pr mannose-6-phosphate receptor, cation dependent gene DOID:4450 renal cell carcinoma ISO RGD:1354089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 8982042 M6pr mannose-6-phosphate receptor, cation dependent gene DOID:630 genetic disease ISO RGD:1354089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982042 M6pr mannose-6-phosphate receptor, cation dependent gene DOID:9000217 Stomach Neoplasms ISO RGD:1354089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8982042 M6pr mannose-6-phosphate receptor, cation dependent gene DOID:9000918 Disease Progression ISO RGD:1354089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8982042 M6pr mannose-6-phosphate receptor, cation dependent gene DOID:9002304 Prostatic Neoplasms ISO RGD:1354089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8982042 M6pr mannose-6-phosphate receptor, cation dependent gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1354089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8982069 Commd10 COMM domain containing 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8982069 Commd10 COMM domain containing 10 gene DOID:12849 autistic disorder ISO RGD:1346630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8982069 Commd10 COMM domain containing 10 gene DOID:630 genetic disease ISO RGD:1346630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982069 Commd10 COMM domain containing 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8982069 Commd10 COMM domain containing 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346630 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8982095 Grb2 growth factor receptor bound protein 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:732473 D RGD:9068941 20200609 RGD DNA:amplification, mutation PMID:28930697|REF_RGD_ID:13504750 8982095 Grb2 growth factor receptor bound protein 2 gene DOID:10283 prostate cancer treatment ISO RGD:732473 D RGD:9068941 20200609 RGD PMID:17372910|REF_RGD_ID:13504751 8982095 Grb2 growth factor receptor bound protein 2 gene DOID:1612 breast cancer treatment ISO RGD:732473 D RGD:9068941 20200609 RGD PMID:17372910|REF_RGD_ID:13504751 8982095 Grb2 growth factor receptor bound protein 2 gene DOID:2526 prostate adenocarcinoma ISO RGD:732473 D RGD:9068941 20200609 RGD PMID:26103942|REF_RGD_ID:11056009 8982095 Grb2 growth factor receptor bound protein 2 gene DOID:2871 endometrial carcinoma severity ISO RGD:732473 D RGD:9068941 20200609 RGD Shc-Grb2 complex;protein:increased expression:serum (human) PMID:22459351|REF_RGD_ID:13441552 8982095 Grb2 growth factor receptor bound protein 2 gene DOID:630 genetic disease ISO RGD:732473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982112 Pierce1 piercer of microtubule wall 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 8982112 Pierce1 piercer of microtubule wall 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8982112 Pierce1 piercer of microtubule wall 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1353369 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8982112 Pierce1 piercer of microtubule wall 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8982112 Pierce1 piercer of microtubule wall 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8982112 Pierce1 piercer of microtubule wall 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 8982112 Pierce1 piercer of microtubule wall 1 gene DOID:3652 Leigh disease ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8982112 Pierce1 piercer of microtubule wall 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353369 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 8982136 Ssr1 signal sequence receptor subunit 1 gene DOID:630 genetic disease ISO RGD:1322158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982150 Tlr7 toll like receptor 7 gene DOID:0080162 lupus nephritis ISO RGD:1558497 D RGD:9068941 20200609 RGD PMID:19944565|REF_RGD_ID:7246905 8982150 Tlr7 toll like receptor 7 gene DOID:0080600 COVID-19 severity ISO RGD:1353456 D RGD:9068941 20210625 RGD DNA:SNPs:Cds: PMID:33650967|REF_RGD_ID:127284891 8982150 Tlr7 toll like receptor 7 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1353456 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 8982150 Tlr7 toll like receptor 7 gene DOID:0112063 X-Linked immunodeficiency 74 ISO RGD:1353456 D RGD:7240710 20200902 OMIM 8982150 Tlr7 toll like receptor 7 gene DOID:0112063 X-Linked immunodeficiency 74 ISO RGD:1353456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 74, COVID-19-related, X-linked PMID:32706371 8982150 Tlr7 toll like receptor 7 gene DOID:11168 anogenital venereal wart ISO RGD:1353456 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 8982150 Tlr7 toll like receptor 7 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1353456 D RGD:9068941 20200609 RGD associated with Bronchiolitis; mRNA:increased expression:nasopharynx (human) PMID:19386802|REF_RGD_ID:5129471 8982150 Tlr7 toll like receptor 7 gene DOID:12849 autistic disorder ISO RGD:1353456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8982150 Tlr7 toll like receptor 7 gene DOID:1883 hepatitis C ISO RGD:1353456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27385120 8982150 Tlr7 toll like receptor 7 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1558497 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 8982150 Tlr7 toll like receptor 7 gene DOID:3042 allergic contact dermatitis ISO RGD:1353456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 8982150 Tlr7 toll like receptor 7 gene DOID:630 genetic disease ISO RGD:1353456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8982150 Tlr7 toll like receptor 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1353456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24990399 8982150 Tlr7 toll like receptor 7 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1563357 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 8982150 Tlr7 toll like receptor 7 gene DOID:9000889 Escherichia Coli Meningitis ISO RGD:1558497 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 8982150 Tlr7 toll like receptor 7 gene DOID:9001314 Systemic Lupus Erythematosus 17 ISO RGD:1353456 D RGD:7240710 20220518 OMIM 8982150 Tlr7 toll like receptor 7 gene DOID:9001314 Systemic Lupus Erythematosus 17 ISO RGD:1353456 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 17 PMID:28492532|PMID:35477763 8982150 Tlr7 toll like receptor 7 gene DOID:9001472 Nasal Polyps ISO RGD:1353456 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA,protein:increased expression: PMID:23157229|REF_RGD_ID:7800741 8982150 Tlr7 toll like receptor 7 gene DOID:9001499 Orthomyxoviridae Infections ISO RGD:1353456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22916010 8982150 Tlr7 toll like receptor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8982150 Tlr7 toll like receptor 7 gene DOID:9074 systemic lupus erythematosus ISO RGD:1353456 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus PMID:35477763 8982157 Trim2 tripartite motif containing 2 gene DOID:0110161 Charcot-Marie-Tooth disease type 2R ISO RGD:1322189 D RGD:7240710 20180130 OMIM 8982157 Trim2 tripartite motif containing 2 gene DOID:0110161 Charcot-Marie-Tooth disease type 2R ISO RGD:1322189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R PMID:16199547|PMID:17576681|PMID:23562820|PMID:23806086|PMID:24088041|PMID:25741868|PMID:25893792|PMID:26257172|PMID:28492532|PMID:9536098 8982157 Trim2 tripartite motif containing 2 gene DOID:630 genetic disease ISO RGD:1322189 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8982157 Trim2 tripartite motif containing 2 gene DOID:7319 axonal neuropathy ISO RGD:1322189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy 8982157 Trim2 tripartite motif containing 2 gene DOID:8398 osteoarthritis ISO RGD:1322189 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:28492532 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1353726 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0060321 umbilical hernia ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Umbilical hernia PMID:25741868 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0060327 omphalocele ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1353726 D RGD:7240710 20180130 OMIM 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1353726 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 | ClinVar Annotator: match by term: Nevo syndrome PMID:10329027|PMID:10502784|PMID:10686424|PMID:10729709|PMID:10874315|PMID:11001813|PMID:1345174|PMID:14565595|PMID:15666309|PMID:15979919|PMID:16199547|PMID:16758144|PMID:17576681|PMID:19320026|PMID:21699693|PMID:22001912|PMID:222849|PMID:25277362|PMID:25326635|PMID:25637337|PMID:25640679|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:29590070|PMID:3110540|PMID:32174067|PMID:32381727|PMID:32720365|PMID:32746767|PMID:33190788|PMID:34265140|PMID:35252061|PMID:36495030|PMID:36973604|PMID:3931636|PMID:416188|PMID:4373475|PMID:5016372|PMID:6089551|PMID:7977351|PMID:8163671|PMID:8449506|PMID:8533783|PMID:8574422|PMID:8981946|PMID:9152832|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9617436|PMID:9893157 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:10126 keratoconus ISO RGD:1353726 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:25741868|PMID:28492532 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:10908 hydrocephalus ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:11383 cryptorchidism ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral cryptorchidism PMID:25741868 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1353726 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10329027|PMID:10686424|PMID:10729709|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16758144|PMID:17576681|PMID:21699693|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28492532|PMID:32746767|PMID:33190788|PMID:9220536|PMID:9536098|PMID:9893157 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1353726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10329027|PMID:10686424|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16199547|PMID:16758144|PMID:17576681|PMID:21699693|PMID:22001912|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:34265140|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9893157 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1353726 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10329027|PMID:10686424|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16199547|PMID:16758144|PMID:17576681|PMID:21699693|PMID:22001912|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:32381727|PMID:34265140|PMID:35252061|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9893157 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1353726 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10329027|PMID:10686424|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16199547|PMID:16758144|PMID:17576681|PMID:21699693|PMID:22001912|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:32381727|PMID:34265140|PMID:35252061|PMID:36973604|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9893157 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1353726 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10329027|PMID:10686424|PMID:10729709|PMID:10874315|PMID:11001813|PMID:14565595|PMID:16199547|PMID:16758144|PMID:17576681|PMID:21699693|PMID:22001912|PMID:25326635|PMID:25741868|PMID:28306225|PMID:28384719|PMID:28492532|PMID:29590070|PMID:32381727|PMID:32720365|PMID:33190788|PMID:34265140|PMID:35252061|PMID:36495030|PMID:36973604|PMID:9220536|PMID:9450904|PMID:9536098|PMID:9893157 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:1459 hypothyroidism ISO RGD:621382 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple organs PMID:15817667|REF_RGD_ID:2314536 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:423 myopathy ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:4667 kyphosis ISO RGD:1353726 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15666309 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:630 genetic disease ISO RGD:1353726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:9005077 Joint Instability ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 8982208 Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1353726 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8982233 Cep70 centrosomal protein 70 gene DOID:0050567 orofacial cleft ISO RGD:1601960 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Median cleft lip and palate PMID:19254375|PMID:25741868|PMID:31680349 8982233 Cep70 centrosomal protein 70 gene DOID:630 genetic disease ISO RGD:1601960 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982326 Krt78 keratin 78 gene DOID:630 genetic disease ISO RGD:1606944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982339 Gsg1l GSG1 like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604995 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8982339 Gsg1l GSG1 like gene DOID:630 genetic disease ISO RGD:1604995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982356 Rfxank regulatory factor X associated ankyrin containing protein gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1322827 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 8982356 Rfxank regulatory factor X associated ankyrin containing protein gene DOID:5812 MHC class II deficiency ISO RGD:1322827 D RGD:7240710 20180207 OMIM 8982356 Rfxank regulatory factor X associated ankyrin containing protein gene DOID:5812 MHC class II deficiency ISO RGD:1322827 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency PMID:10803838|PMID:11313409|PMID:12618906|PMID:16166641|PMID:16199547|PMID:17576681|PMID:21908431|PMID:22524894|PMID:22863278|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7951244|PMID:9536098|PMID:9806546 8982356 Rfxank regulatory factor X associated ankyrin containing protein gene DOID:5812 MHC class II deficiency ISO RGD:1322827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar Annotator: match by term: SCID, HLA Class 2-Negative PMID:10725724|PMID:10803838|PMID:11313409|PMID:11463838|PMID:12618906|PMID:16166641|PMID:16199547|PMID:17576681|PMID:21908431|PMID:22524894|PMID:22863278|PMID:24033266|PMID:25741868|PMID:27980538|PMID:28492532|PMID:28916186|PMID:30170160|PMID:32373116|PMID:34330684|PMID:7951244|PMID:9536098|PMID:9806546 8982356 Rfxank regulatory factor X associated ankyrin containing protein gene DOID:612 primary immunodeficiency disease ISO RGD:1322827 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:10725724|PMID:11463838|PMID:25741868 8982356 Rfxank regulatory factor X associated ankyrin containing protein gene DOID:627 severe combined immunodeficiency ISO RGD:1322827 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bare Lymphocyte Syndrome PMID:10803838|PMID:16166641|PMID:21908431|PMID:25741868|PMID:28492532|PMID:9806546 8982356 Rfxank regulatory factor X associated ankyrin containing protein gene DOID:630 genetic disease ISO RGD:1322827 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8982356 Rfxank regulatory factor X associated ankyrin containing protein gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8982372 Slc25a45 solute carrier family 25 member 45 gene DOID:1059 intellectual disability ISO RGD:1604185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8982372 Slc25a45 solute carrier family 25 member 45 gene DOID:1909 melanoma ISO RGD:1604185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8982372 Slc25a45 solute carrier family 25 member 45 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8982372 Slc25a45 solute carrier family 25 member 45 gene DOID:2746 glycogen storage disease V ISO RGD:1604185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8982372 Slc25a45 solute carrier family 25 member 45 gene DOID:3070 high grade glioma ISO RGD:1604185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8982372 Slc25a45 solute carrier family 25 member 45 gene DOID:630 genetic disease ISO RGD:1604185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982372 Slc25a45 solute carrier family 25 member 45 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8982372 Slc25a45 solute carrier family 25 member 45 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8982399 Ctdsp1 CTD small phosphatase 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 8982399 Ctdsp1 CTD small phosphatase 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 8982399 Ctdsp1 CTD small phosphatase 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 8982399 Ctdsp1 CTD small phosphatase 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 8982399 Ctdsp1 CTD small phosphatase 1 gene DOID:630 genetic disease ISO RGD:1313770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982399 Ctdsp1 CTD small phosphatase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8982417 Arg2 arginase 2 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:732329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 8982417 Arg2 arginase 2 gene DOID:10763 hypertension ISO RGD:2151 D RGD:9068941 20200609 RGD PMID:18475148|REF_RGD_ID:4142834 8982417 Arg2 arginase 2 gene DOID:10763 hypertension ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:17223136|REF_RGD_ID:1626296 8982417 Arg2 arginase 2 gene DOID:10763 hypertension ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20039818|REF_RGD_ID:4143278 8982417 Arg2 arginase 2 gene DOID:2841 asthma ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19281908 8982417 Arg2 arginase 2 gene DOID:2841 asthma ISO RGD:736823 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:12813022|REF_RGD_ID:4143187 8982417 Arg2 arginase 2 gene DOID:2841 asthma severity ISO RGD:732329 D RGD:9068941 20200609 RGD DNA:SNP: :rs3742879, rs17249437 (human) PMID:20124949|REF_RGD_ID:5129205 8982417 Arg2 arginase 2 gene DOID:2841 asthma susceptibility ISO RGD:732329 D RGD:9068941 20200609 RGD DNA:SNPs (human) PMID:16387594|REF_RGD_ID:5129207 8982417 Arg2 arginase 2 gene DOID:3021 acute kidney failure ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal tubule (rat) PMID:12371970|REF_RGD_ID:631989 8982417 Arg2 arginase 2 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 8982417 Arg2 arginase 2 gene DOID:5199 ureteral obstruction ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, glomerulus (rat) PMID:18552509|REF_RGD_ID:4143282 8982417 Arg2 arginase 2 gene DOID:6000 congestive heart failure ISO RGD:732329 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8982417 Arg2 arginase 2 gene DOID:630 genetic disease ISO RGD:732329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982417 Arg2 arginase 2 gene DOID:6432 pulmonary hypertension ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24951775 8982417 Arg2 arginase 2 gene DOID:783 end stage renal disease ISO RGD:2151 D RGD:9068941 20200609 RGD protein:decreased activity:kidney (rat) PMID:16809898|REF_RGD_ID:4110828 8982417 Arg2 arginase 2 gene DOID:8466 retinal degeneration ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30618589 8982417 Arg2 arginase 2 gene DOID:9000918 Disease Progression ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 8982417 Arg2 arginase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2151 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:11931836|REF_RGD_ID:1626298 8982417 Arg2 arginase 2 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2151 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:20699748|REF_RGD_ID:4143274 8982417 Arg2 arginase 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736823 D RGD:9068941 20200609 RGD PMID:21926276|REF_RGD_ID:6902923 8982417 Arg2 arginase 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 8982417 Arg2 arginase 2 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:732329 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:16387594|REF_RGD_ID:5129207 8982417 Arg2 arginase 2 gene DOID:9002955 Nerve Degeneration ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30618589 8982417 Arg2 arginase 2 gene DOID:9004484 Sepsis ISO RGD:2151 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:9635249|REF_RGD_ID:1626297 8982417 Arg2 arginase 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2151 D RGD:9068941 20200609 RGD protein:increased activity:kidney (rat) PMID:12841630|REF_RGD_ID:4143269 8982417 Arg2 arginase 2 gene DOID:9005749 Necrosis ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23424623 8982417 Arg2 arginase 2 gene DOID:9007480 Hyperoxia ISO RGD:2151 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:9688940|REF_RGD_ID:4144054 8982417 Arg2 arginase 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:732329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30618589 8982430 Rnft1 ring finger protein, transmembrane 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606007 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8982430 Rnft1 ring finger protein, transmembrane 1 gene DOID:630 genetic disease ISO RGD:1606007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754746 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:735513 D RGD:9068941 20220217 RGD PMID:32015322|REF_RGD_ID:151356909 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0080600 COVID-19 ISO RGD:735512 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0111940 immunodeficiency 42 ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:735512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:10534 stomach cancer ISO RGD:735512 D RGD:9068941 20220224 RGD protein:increased expression:stomach (human) PMID:28274596|REF_RGD_ID:151356999 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:10534 stomach cancer severity ISO RGD:735512 D RGD:9068941 20220224 RGD protein:increased expression:stomach (human) PMID:25482013|PMID:25672320|REF_RGD_ID:151356929|REF_RGD_ID:151356982 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1115 sarcoma ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15217956 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1324 lung cancer ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung (human) PMID:28776569|REF_RGD_ID:151356930 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1324 lung cancer ISO RGD:735512 D RGD:9068941 20220224 RGD DNA:SNP:promoter:-190indel, -235C>A, (rs3831987,rs3738484) PMID:21887682|REF_RGD_ID:151356991 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1324 lung cancer ameliorates ISO RGD:735512 D RGD:9068941 20220217 RGD human cells in mouse model PMID:31662324|REF_RGD_ID:151356915 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:1540 parathyroid carcinoma ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:219 colon cancer ameliorates ISO RGD:735512 D RGD:9068941 20220217 RGD human cells in mouse model PMID:29899555|REF_RGD_ID:151356919 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung, cytoplasm (human) PMID:24469836|REF_RGD_ID:151356906 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:735512 D RGD:9068941 20220224 RGD human cells in mouse model PMID:32276600|REF_RGD_ID:151357000 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735512 D RGD:9068941 20220217 RGD DNA:mutations:multiple PMID:27264345|REF_RGD_ID:151356758 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung, cytoplasm (human) PMID:29567880|REF_RGD_ID:151356750 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:735512 D RGD:9068941 20220217 RGD protein:increased expression:lung (human) PMID:31662324|PMID:32945371|REF_RGD_ID:151356915|REF_RGD_ID:151356931 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3910 lung adenocarcinoma severity ISO RGD:735512 D RGD:9068941 20220217 RGD mRNA:increased expression:lung (human) PMID:31200834|REF_RGD_ID:151356911 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:3910 lung adenocarcinoma treatment ISO RGD:735512 D RGD:9068941 20220217 RGD human cells in mouse model PMID:31200834|REF_RGD_ID:151356911 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:5812 MHC class II deficiency ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:630 genetic disease ISO RGD:735512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9002189 High Myopia ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9002245 Intestinal Neoplasms ISO RGD:735513 D RGD:9068941 20220217 RGD PMID:32179094|REF_RGD_ID:151356755 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9005172 Lung Neoplasms ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19903766|PMID:27935865 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9065 leishmaniasis ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670606 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9206 Barrett's esophagus ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127259 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9256 colorectal cancer disease_progression ISO RGD:735512 D RGD:9068941 20220210 RGD DNA:SNP:promoter: (rs9803935) (human) PMID:32619164|REF_RGD_ID:151356738 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9256 colorectal cancer disease_progression ISO RGD:735512 D RGD:9068941 20220217 RGD mRNA,protein:increased expression:colon (human) PMID:29899555|REF_RGD_ID:151356919 8982450 Mcl1 MCL1 apoptosis regulator, BCL2 family member gene DOID:9538 multiple myeloma ISO RGD:735512 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12429644 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0050745 diffuse large B-cell lymphoma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP: :(rs1695)(human) PMID:19338043|REF_RGD_ID:8547939 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0050860 colorectal adenoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP: :p.A114V (human) PMID:20375710|REF_RGD_ID:7495820 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:mucosa: PMID:16982972|REF_RGD_ID:10755432 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0050908 myelodysplastic syndrome susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:313A>G (p.I105V)(human) PMID:23278642|REF_RGD_ID:10755416 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732257 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:2758 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22272023|REF_RGD_ID:10401942 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15526359|PMID:16332721|PMID:20188851|PMID:21785164|PMID:2563599|PMID:7585603 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732257 D RGD:9068941 20200609 RGD associated with stomach disease PMID:28182092|REF_RGD_ID:14700971 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:21092749|REF_RGD_ID:10401933 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2758 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:23981577|REF_RGD_ID:10401944 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0060500 drug allergy ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0060500 drug allergy susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Acquired Immunodeficiency Syndrome;DNA:polymorphism:exon:A>G313 (rs1695) (human) PMID:16297214|REF_RGD_ID:5490995 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:A>G313 (human) PMID:17250723|REF_RGD_ID:5148021 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23643483 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:10283 prostate cancer ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:9111193|REF_RGD_ID:6906883 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:17067754|REF_RGD_ID:4142515 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:1037 lymphoid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:12010828|REF_RGD_ID:10755404 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:1059 intellectual disability ISO RGD:732257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:10591 pre-eclampsia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I105V (human) PMID:11826024|REF_RGD_ID:737707 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease ISO RGD:1620115 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex PMID:23211594|REF_RGD_ID:10401913 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:24584466|REF_RGD_ID:10401912 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17911365|REF_RGD_ID:5490271 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:15805147|REF_RGD_ID:5490123 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:10763 hypertension ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24915237 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:deletion, haplotype:: (human) PMID:28221473|REF_RGD_ID:12792224 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism::(rs1695)(human) PMID:22487578|REF_RGD_ID:8547932 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer ISO RGD:2758 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:21213404|REF_RGD_ID:10401939 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12500666|PMID:22306368|PMID:7729958 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:11054 urinary bladder cancer ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:18544563|PMID:9111193|REF_RGD_ID:6906879|REF_RGD_ID:6906883 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:24205794|REF_RGD_ID:10401934 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:1115 sarcoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17152492 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:11476 osteoporosis ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human) PMID:24593045|REF_RGD_ID:10401929 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:11650 bronchopulmonary dysplasia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:14726935|REF_RGD_ID:4142520 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:1205 allergic disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:20526719|REF_RGD_ID:5133266 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:12361 Graves' disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17980001|REF_RGD_ID:8547807 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:12849 autistic disorder ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404132 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:13580 cholestasis treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:23960717|REF_RGD_ID:10401941 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:14067 Plasmodium falciparum malaria severity ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:19635899|REF_RGD_ID:10450848 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:14330 Parkinson's disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17190945|PMID:23721876 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:14330 Parkinson's disease ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:del: : PMID:9802272|REF_RGD_ID:1358669 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:1579 respiratory system disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs: :p.I105V (rs1695), rs749174, rs6591255 (human) PMID:19403501|REF_RGD_ID:4140942 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:1612 breast cancer treatment ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:23812950|REF_RGD_ID:10755330 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:1682 congenital heart disease ISO RGD:1352435,RGD:1343858 D RGD:9068941 20230928 RGD DNA:SNP: :rs2169650 (human) PMID:26612412|REF_RGD_ID:11097065 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:11511301|REF_RGD_ID:6906882 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:1793 pancreatic cancer ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:19536452|REF_RGD_ID:2317805 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:19786118|REF_RGD_ID:2317804 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:1909 melanoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V(human) PMID:23568549|REF_RGD_ID:8547833 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2377 multiple sclerosis disease_progression ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:10680782|REF_RGD_ID:5490267 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2394 ovarian cancer treatment ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:19786980|REF_RGD_ID:5688741 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2773 contact dermatitis ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP: :p.A114V (human) PMID:18709160|REF_RGD_ID:4140947 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs: :p.I105V, p.A114V (human) PMID:20858151|REF_RGD_ID:5490985 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs:exons:p.I105V (rs1695), A114V (rs1138272) (human) PMID:15693909|REF_RGD_ID:5490999 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma ISO RGD:732257 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:11994713|PMID:16870661|PMID:18988661|PMID:24117884|PMID:29411558 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma disease_progression ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:18057098|REF_RGD_ID:4140951 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma no_association ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs: :p.I105V, p.A114V (human) PMID:16176403|REF_RGD_ID:4142519 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma severity ISO RGD:1620115 D RGD:9068941 20200609 RGD PMID:18787219|REF_RGD_ID:4140946 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma severity ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:10806136|REF_RGD_ID:4142526 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2841 asthma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNPs:intron,exon:(rs749174), (rs1138272)(human) PMID:20210814|REF_RGD_ID:5490991 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:2998 testicular cancer ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:9111193|REF_RGD_ID:6906883 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3021 acute kidney failure ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3021 acute kidney failure ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:20798258|REF_RGD_ID:6903954 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:305 carcinoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11196146 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3069 malignant astrocytoma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.A114V (human) PMID:12241105|REF_RGD_ID:5490125 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3070 high grade glioma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16899598 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3070 high grade glioma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:15006924|REF_RGD_ID:5490124 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:732257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:17439673|REF_RGD_ID:4142514 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:20467983|REF_RGD_ID:4140938 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3310 atopic dermatitis ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:20674822|REF_RGD_ID:5490981 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:19842992|REF_RGD_ID:5490540 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16109392 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3347 osteosarcoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17152492 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3407 carotid artery disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16973168 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3407 carotid artery disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:16973168|REF_RGD_ID:5490250 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3426 vestibular disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18776599 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:16537562|REF_RGD_ID:2317809 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:12488200|REF_RGD_ID:2317811 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3587 pancreatic ductal carcinoma resistance ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:17265526|REF_RGD_ID:2317806 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17022435|REF_RGD_ID:5490249 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I105V (human) PMID:17916905|REF_RGD_ID:14700982 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3770 pulmonary fibrosis ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic PMID:17044913|REF_RGD_ID:4142516 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3904 bronchus carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD mRNA:decreased expression:bronchus, epithelial cell PMID:10749130|REF_RGD_ID:4142527 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17094902 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP: :p.A114V (human) PMID:18258609|REF_RGD_ID:4140950 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (human) PMID:19174490|REF_RGD_ID:4140944 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:409 liver disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:12297838|REF_RGD_ID:4142524 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:4250 conjunctivochalasis ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:tear: PMID:20861728|REF_RGD_ID:8547943 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:4450 renal cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:4450 renal cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20464042|REF_RGD_ID:8547946 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:10383153|REF_RGD_ID:6906878 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:480 movement disease severity ISO RGD:732257 D RGD:9068941 20200609 RGD associated with with schizophrenia; DNA:polymorphism:exon:p.I105V (human) PMID:19051221|REF_RGD_ID:5490234 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:19484794|REF_RGD_ID:4140940 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:4947 cholangiocarcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:15467712|REF_RGD_ID:2317198 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:4947 cholangiocarcinoma treatment ISO RGD:732257 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:12805482|REF_RGD_ID:14401711 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:4961 bone marrow disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;DNA:polymorphism:cds:p.I105V(human) PMID:16995867|REF_RGD_ID:10755423 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:4990 essential tremor ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18215156 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:557 kidney disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868187 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:574 peripheral nervous system disease ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20979931 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:574 peripheral nervous system disease severity ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V(human) PMID:19223573|REF_RGD_ID:5490233 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:630 genetic disease ISO RGD:732257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:670 amphetamine abuse ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15729709 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9029167 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:increased methylation:promoter PMID:22536438|REF_RGD_ID:14401712 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:732257 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:74 hematopoietic system disease susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:18540691|REF_RGD_ID:10755418 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:8283 peritonitis ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:18962899|REF_RGD_ID:4140945 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:850 lung disease ISO RGD:732257 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:18962899|REF_RGD_ID:4140945 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20843134 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:8567 Hodgkin's lymphoma ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:24312188|REF_RGD_ID:10401940 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:8646 substance-induced psychosis ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15729709 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:8692 myeloid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:20843134|REF_RGD_ID:10755535 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:8893 psoriasis ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:epidermis: PMID:21805023|REF_RGD_ID:5491007 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:16760134|REF_RGD_ID:2317808 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21133646|PMID:21364753 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9000918 Disease Progression ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:2758 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:12016164|REF_RGD_ID:2317823 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2758 D RGD:9068941 20220708 RGD protein:increased expression:liver (rat) PMID:3965145|REF_RGD_ID:152998958 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20188851|PMID:2563599|PMID:3124819|PMID:7585603 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11196146|PMID:15538743|PMID:17173048|PMID:19223546|PMID:22581815 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9002315 Kidney Calculi ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9003020 Chemotherapy-Induced Febrile Neutropenia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : rs1695(human) PMID:25008867|REF_RGD_ID:10755412 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9003157 Respiratory Sounds ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18950799 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9003613 Laryngeal Neoplasms ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:larynx PMID:18335753|REF_RGD_ID:4140949 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9003657 Perennial Allergic Rhinitis susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:17181111|REF_RGD_ID:4142523 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:732257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1620115 D RGD:9068941 20200609 RGD PMID:17142801|REF_RGD_ID:6903953 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9004289 Drug-Induced Leukopenia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Urologic Neoplasms;DNA:polymorphism:cds:p.I105V(human) PMID:17593093|REF_RGD_ID:10755415 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.I105V (rs1695) (human) PMID:23812950|REF_RGD_ID:10755330 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9004814 Chromosome Aberrations ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16537716 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909032 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9005452 Ureteral Calculi ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9005700 Airway Obstruction severity ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Bronchial Hyperreactivity;DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:10919500|REF_RGD_ID:4142525 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9005749 Necrosis ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14710442 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9005837 Cholangiofibrosis ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:22576464|REF_RGD_ID:10401932 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9007073 Cough ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:18447907|REF_RGD_ID:4140948 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9007090 Experimental Seizures treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:22038365|REF_RGD_ID:10401935 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:25226513 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis PMID:18976645|REF_RGD_ID:4142522 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion treatment ISO RGD:2758 D RGD:9068941 20200609 RGD PMID:16645134|REF_RGD_ID:10401930 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:732257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:19922504 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25322848 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:11906705|REF_RGD_ID:10755328 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:21729529|REF_RGD_ID:10755422 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD chemotherapy-induced; PMID:11553769|REF_RGD_ID:10755420 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.I105V (rs1695) (human) PMID:20739761|REF_RGD_ID:5490963 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9471 meningitis ISO RGD:732257 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:9262228|REF_RGD_ID:5491002 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9538 multiple myeloma disease_progression ISO RGD:732257 D RGD:9068941 20200609 RGD PMID:23953887|REF_RGD_ID:10755413 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9538 multiple myeloma no_association ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I105V(human) PMID:18061666|REF_RGD_ID:10755419 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9538 multiple myeloma treatment ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:17512053|REF_RGD_ID:11075094 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9669 senile cataract susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:10892871|REF_RGD_ID:8547933 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9675 pulmonary emphysema ISO RGD:732257 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human) PMID:20525719|REF_RGD_ID:4140935 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:10666194|REF_RGD_ID:10450829 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:polymorphism: :1578 a>G(human) PMID:23979883|REF_RGD_ID:10755417 8982459 Gstp1 glutathione S-transferase pi 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:732257 D RGD:9068941 20200609 RGD DNA:transition mutation:exon: PMID:15738600|REF_RGD_ID:10755321 8982471 COL4A2 collagen type IV alpha 2 chain gene DOID:13223 uterine fibroid ISO RGD:1317652 D RGD:9068941 20231102 RGD DNA:hypomethylation:uterus (human) PMID:23818951|REF_RGD_ID:401851920 8982471 COL4A2 collagen type IV alpha 2 chain gene DOID:9002676 Cerebral Hemorrhage susceptibility ISO RGD:1317652 D RGD:9068941 20240321 RGD DNA:SNPs:: PMID:28954878|REF_RGD_ID:13450933 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:0060263 porencephaly ISO RGD:1317652 D RGD:9068941 20230810 CTD CTD Direct Evidence: marker/mechanism 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:0060263 porencephaly ISO RGD:1317652 D RGD:9068941 20230810 RGD DNA:mutation:cds:c.2399G>A,p.G800E(human) PMID:26708157|REF_RGD_ID:13450938 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:0090125 brain small vessel disease 1 ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage PMID:25741868|PMID:26467025|PMID:28492532 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:0112314 brain small vessel disease 2 ISO RGD:1317652 D RGD:7240710 20240320 OMIM 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:0112314 brain small vessel disease 2 ISO RGD:1317652 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: COL4A2-Related Disorder | ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: Porencephaly 2 PMID:16199547|PMID:17576681|PMID:22209246|PMID:22209247|PMID:22333902|PMID:22914737|PMID:24001601|PMID:24390199|PMID:24646874|PMID:25326635|PMID:25653287|PMID:25741868|PMID:27794444|PMID:28492532|PMID:30315939|PMID:30413629|PMID:30859180|PMID:31069529|PMID:32154576|PMID:32732225|PMID:33527515|PMID:33912663|PMID:34531397|PMID:9536098 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:1184 nephrotic syndrome ISO RGD:1317652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1281619 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:13129 severe pre-eclampsia severity ISO RGD:1317652 D RGD:9068941 20230525 RGD mRNA:increased expression:decidua basalis (human) PMID:24331737|REF_RGD_ID:329845529 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:1826 epilepsy ISO RGD:1317652 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:1936 atherosclerosis susceptibility ISO RGD:1317652 D RGD:9068941 20200609 RGD DNA:SNP: :rs72657934(human) PMID:28642624|REF_RGD_ID:13450936 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:1969 cerebral palsy ISO RGD:1317652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:22209246|PMID:22209247|PMID:22333902|PMID:24001601|PMID:25741868|PMID:27794444|PMID:28492532|PMID:33912663|PMID:34531397 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:2222 factor X deficiency ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:2661 myoepithelioma ISO RGD:1317652 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:5409 lung small cell carcinoma ISO RGD:1317652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:630 genetic disease ISO RGD:1317652 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:22333902|PMID:25741868|PMID:28492532|PMID:30315939|PMID:30413629|PMID:33912663|PMID:9724608 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:865 vasculitis ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vasculitis PMID:25741868 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:8725 vascular dementia ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:33268848 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:9001585 Intraventricular Hemorrhage ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intraventricular hemorrhage PMID:25741868|PMID:33527515 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1317652 D RGD:7240710 20240320 OMIM 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COL4A2-Related Disorder | ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:22209247|PMID:22914737|PMID:24390199|PMID:24646874|PMID:25653287|PMID:25741868|PMID:28492532 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:9002788 Lacunar Strokes susceptibility ISO RGD:1317652 D RGD:9068941 20200609 RGD DNA:SNPs:: PMID:28954878|REF_RGD_ID:13450933 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:26467025|PMID:28492532 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:9005077 Joint Instability ISO RGD:1317652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 8982471 Col4a2 collagen type IV alpha 2 chain gene DOID:9007096 Stroke ISO RGD:1317652 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Stroke PMID:17576681|PMID:25741868|PMID:28492532|PMID:32040484|PMID:9536098 8982520 Ephb3 EPH receptor B3 gene DOID:0111546 Currarino syndrome ISO RGD:1313727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8982520 Ephb3 EPH receptor B3 gene DOID:12365 malaria ISO RGD:1305602 D RGD:9068941 20210625 RGD PMID:25784101|REF_RGD_ID:127285023 8982520 Ephb3 EPH receptor B3 gene DOID:630 genetic disease ISO RGD:1313727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982541 Crh corticotropin releasing hormone gene DOID:0050562 West syndrome ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11341487 8982541 Crh corticotropin releasing hormone gene DOID:0060001 withdrawal disorder ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:amygdala (rat) PMID:12782395|REF_RGD_ID:5508177 8982541 Crh corticotropin releasing hormone gene DOID:0060001 withdrawal disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12968131|PMID:18596687 8982541 Crh corticotropin releasing hormone gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:730946 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:23086396|PMID:23593457|PMID:24395520 8982541 Crh corticotropin releasing hormone gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:730946 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:23086396|PMID:23593457|PMID:24395520 8982541 Crh corticotropin releasing hormone gene DOID:10652 Alzheimer's disease ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7477348 8982541 Crh corticotropin releasing hormone gene DOID:10652 Alzheimer's disease ISO RGD:730946 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:7477348|REF_RGD_ID:5508831 8982541 Crh corticotropin releasing hormone gene DOID:1129 pituitary apoplexy ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12699433|PMID:12699434 8982541 Crh corticotropin releasing hormone gene DOID:11446 sciatic neuropathy ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:central nucleus of amygdala, bed nucleus of stria terminalis (rat) PMID:21684787|REF_RGD_ID:5490542 8982541 Crh corticotropin releasing hormone gene DOID:13375 temporal arteritis no_association ISO RGD:730946 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12051390|REF_RGD_ID:1581301 8982541 Crh corticotropin releasing hormone gene DOID:13619 extrahepatic cholestasis ISO RGD:620505 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus (rat) PMID:8387536|REF_RGD_ID:5490980 8982541 Crh corticotropin releasing hormone gene DOID:14330 Parkinson's disease ISO RGD:730946 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:3502064|REF_RGD_ID:5508835 8982541 Crh corticotropin releasing hormone gene DOID:1561 cognitive disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16039799 8982541 Crh corticotropin releasing hormone gene DOID:1574 alcohol use disorder ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:central amygdaloid nucleus (rat) PMID:20060104|REF_RGD_ID:5508173 8982541 Crh corticotropin releasing hormone gene DOID:1596 depressive disorder ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:paraventricular nucleus, dorsal raphe nucleus (rat) PMID:20860876|REF_RGD_ID:5147490 8982541 Crh corticotropin releasing hormone gene DOID:1596 depressive disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12438692|PMID:18698320 8982541 Crh corticotropin releasing hormone gene DOID:1824 status epilepticus ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7756609 8982541 Crh corticotropin releasing hormone gene DOID:2030 anxiety disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11440811|PMID:11875628|PMID:12424556|PMID:12438692|PMID:14575894|PMID:16495007|PMID:17293045|PMID:21268831|PMID:22231481|PMID:7816204|PMID:8736133 8982541 Crh corticotropin releasing hormone gene DOID:2303 stereotypic movement disorder ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1914160 8982541 Crh corticotropin releasing hormone gene DOID:2316 brain ischemia ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex (rat) PMID:8541482|REF_RGD_ID:1581300 8982541 Crh corticotropin releasing hormone gene DOID:3328 temporal lobe epilepsy ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:9037416|REF_RGD_ID:5508845 8982541 Crh corticotropin releasing hormone gene DOID:3525 middle cerebral artery infarction ISO RGD:620505 D RGD:9068941 20200609 RGD protein:decreased expression:median eminence of hypothalamus (rat) PMID:21741032|REF_RGD_ID:5490538 8982541 Crh corticotropin releasing hormone gene DOID:3612 retinitis ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11384150 8982541 Crh corticotropin releasing hormone gene DOID:446 primary hyperaldosteronism ISO RGD:730947 D RGD:9068941 20220825 MouseDO OMIM:605635 | OMIM:613677 8982541 Crh corticotropin releasing hormone gene DOID:4724 brain edema ISO RGD:730946 D RGD:9068941 20230727 RGD mRNA:decreased expression:neocortex,Pyramidal cells (human) PMID:27487831|REF_RGD_ID:329969876 8982541 Crh corticotropin releasing hormone gene DOID:480 movement disease ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21618986 8982541 Crh corticotropin releasing hormone gene DOID:594 panic disorder ISO RGD:730946 D RGD:9068941 20200609 RGD PMID:14675801|REF_RGD_ID:1358525 8982541 Crh corticotropin releasing hormone gene DOID:630 genetic disease ISO RGD:730946 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22984453|PMID:23086396|PMID:23593457|PMID:24395520|PMID:26467025|PMID:28492532 8982541 Crh corticotropin releasing hormone gene DOID:8466 retinal degeneration ISO RGD:620505 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8982541 Crh corticotropin releasing hormone gene DOID:853 polymyalgia rheumatica no_association ISO RGD:730946 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12051390|REF_RGD_ID:1581301 8982541 Crh corticotropin releasing hormone gene DOID:9000039 Spinal Cord Injuries ISO RGD:620505 D RGD:9068941 20200609 RGD protein:altered expression:spinal cord (rat) PMID:20458328|REF_RGD_ID:5490964 8982541 Crh corticotropin releasing hormone gene DOID:9000641 Pain ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16495007 8982541 Crh corticotropin releasing hormone gene DOID:9000972 Fever ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11852909 8982541 Crh corticotropin releasing hormone gene DOID:9001109 Anorexia ISO RGD:620505 D RGD:9068941 20200609 RGD PMID:12429558|REF_RGD_ID:704394 8982541 Crh corticotropin releasing hormone gene DOID:9001109 Anorexia ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16420149 8982541 Crh corticotropin releasing hormone gene DOID:9001204 Dyspepsia ISO RGD:620505 D RGD:9068941 20200609 RGD protein:increased expression:central nucleus of amygdala, paraventricular hypothalamic nucleus (rat) PMID:21589865|REF_RGD_ID:5490556 8982541 Crh corticotropin releasing hormone gene DOID:9001239 Delayed Puberty ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20002962 8982541 Crh corticotropin releasing hormone gene DOID:9001981 Weight Loss ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8986836 8982541 Crh corticotropin releasing hormone gene DOID:9003674 Chest Pain ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2563132 8982541 Crh corticotropin releasing hormone gene DOID:9004484 Sepsis ISO RGD:620505 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus (rat) PMID:21549066|REF_RGD_ID:5490558 8982541 Crh corticotropin releasing hormone gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:620505 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 8982541 Crh corticotropin releasing hormone gene DOID:9005158 Cushing Syndrome ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21359208 8982541 Crh corticotropin releasing hormone gene DOID:9005632 Cocaine-Related Disorders ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus (rat) PMID:12782395|REF_RGD_ID:5508177 8982541 Crh corticotropin releasing hormone gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10516337|PMID:11797056|PMID:18596687|PMID:19349312|PMID:7796157 8982541 Crh corticotropin releasing hormone gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620505 D RGD:9068941 20200609 RGD mRNA:increased expression:paraventricular hypothalamic nucleus (rat) PMID:9652969|REF_RGD_ID:5508166 8982541 Crh corticotropin releasing hormone gene DOID:9006024 Hypotension ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1320258|PMID:6093200 8982541 Crh corticotropin releasing hormone gene DOID:9007001 Bradycardia ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6093200 8982541 Crh corticotropin releasing hormone gene DOID:9007877 Fetal Hypoxia ISO RGD:620505 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular nucleus of hypothalamus (rat) PMID:19409200|REF_RGD_ID:5491006 8982541 Crh corticotropin releasing hormone gene DOID:9008514 Psychomotor Disorders ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1335535 8982541 Crh corticotropin releasing hormone gene DOID:987 alopecia ISO RGD:730946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21359208 8982541 Crh corticotropin releasing hormone gene DOID:9970 obesity ISO RGD:620505 D RGD:9068941 20200609 RGD PMID:11564446|REF_RGD_ID:5508830 8982541 Crh corticotropin releasing hormone gene DOID:9970 obesity ISO RGD:730946 D RGD:9068941 20200609 RGD PMID:11564446|REF_RGD_ID:5508830 8982541 Crh corticotropin releasing hormone gene DOID:9993 hypoglycemia ISO RGD:620505 D RGD:9068941 20200609 RGD PMID:12606499|REF_RGD_ID:704397 8982547 Pfn1 profilin 1 gene DOID:0050941 spastic ataxia 2 ISO RGD:733332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 8982547 Pfn1 profilin 1 gene DOID:0060209 amyotrophic lateral sclerosis type 18 ISO RGD:733332 D RGD:7240710 20180130 OMIM 8982547 Pfn1 profilin 1 gene DOID:0060209 amyotrophic lateral sclerosis type 18 ISO RGD:733332 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 18 | ClinVar Annotator: match by term: PFN1-related condition PMID:22801503|PMID:24309268|PMID:25741868|PMID:26908597|PMID:28492532|PMID:31346562|PMID:31991009|PMID:32392277|PMID:32589291 8982547 Pfn1 profilin 1 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:733332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 8982547 Pfn1 profilin 1 gene DOID:1289 neurodegenerative disease ISO RGD:733332 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:25741868|PMID:26908597|PMID:31346562|PMID:31991009|PMID:32392277|PMID:32589291 8982547 Pfn1 profilin 1 gene DOID:1793 pancreatic cancer ISO RGD:733332 D RGD:9068941 20200609 RGD PMID:16215274|REF_RGD_ID:2317552 8982547 Pfn1 profilin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621825 D RGD:9068941 20200609 RGD PMID:8651905|REF_RGD_ID:729497 8982547 Pfn1 profilin 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:733332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 8982547 Pfn1 profilin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:733332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8982547 Pfn1 profilin 1 gene DOID:630 genetic disease ISO RGD:733332 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982547 Pfn1 profilin 1 gene DOID:9000058 Keloid ISO RGD:733332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 8982547 Pfn1 profilin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8982558 Kiaa2013 KIAA2013 ortholog gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8982558 Kiaa2013 KIAA2013 ortholog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602668 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8982558 Kiaa2013 KIAA2013 ortholog gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:1602668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 8982558 Kiaa2013 KIAA2013 ortholog gene DOID:630 genetic disease ISO RGD:1602668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982558 Kiaa2013 KIAA2013 ortholog gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1602668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8982564 Armc7 armadillo repeat containing 7 gene DOID:630 genetic disease ISO RGD:1347915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982585 Trpt1 tRNA phosphotransferase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8982585 Trpt1 tRNA phosphotransferase 1 gene DOID:1059 intellectual disability ISO RGD:1349455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8982585 Trpt1 tRNA phosphotransferase 1 gene DOID:3070 high grade glioma ISO RGD:1349455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8982585 Trpt1 tRNA phosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982605 Mpped2 metallophosphoesterase domain containing 2 gene DOID:10024 migraine with aura ISO RGD:1347972 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:35115687 8982605 Mpped2 metallophosphoesterase domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1347972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8982605 Mpped2 metallophosphoesterase domain containing 2 gene DOID:630 genetic disease ISO RGD:1347972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982625 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:1882 atrial heart septal defect ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:31834374 8982625 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:3302 chordoma ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chordoma 8982625 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:3565 meningioma ISO RGD:1348081 D RGD:9068941 20200609 RGD DNA:translocation PMID:7731706|REF_RGD_ID:1600423 8982625 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of hemidiaphragm PMID:25741868|PMID:31834374 8982625 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:4586 familial meningioma ISO RGD:1348081 D RGD:7240710 20230505 OMIM 8982625 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:4586 familial meningioma ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial meningioma PMID:25741868 8982625 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:630 genetic disease ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28135719|PMID:28330790|PMID:31834374|PMID:31839203|PMID:32790267 8982625 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:8692 myeloid leukemia ISO RGD:1348081 D RGD:9068941 20200609 RGD acute myeloid leukemia, DNA:translocation PMID:7731705|REF_RGD_ID:1600424 8982625 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:9000547 CEBALID Syndrome ISO RGD:1348081 D RGD:7240710 20200318 OMIM 8982625 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:9000547 CEBALID Syndrome ISO RGD:1348081 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: CEBALID syndrome | ClinVar Annotator: match by term: MN1 C-TERMINAL TRUNCATION SYNDROME | ClinVar Annotator: match by term: MN1-related condition PMID:22451504|PMID:22965664|PMID:25741868|PMID:28135719|PMID:28330790|PMID:31834374|PMID:31839203|PMID:32790267|PMID:33351070|PMID:33351141 8982625 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8982625 Mn1 MN1 proto-oncogene, transcriptional regulator gene DOID:9119 acute myeloid leukemia ISO RGD:1348081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19822134 8982631 Rpl23 ribosomal protein L23 gene DOID:630 genetic disease ISO RGD:1354324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8982640 Tlnrd1 talin rod domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1323243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8982640 Tlnrd1 talin rod domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1323243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8982640 Tlnrd1 talin rod domain containing 1 gene DOID:630 genetic disease ISO RGD:1323243 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982640 Tlnrd1 talin rod domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1323243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8982645 Fcgbp Fc gamma binding protein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1350128 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8982645 Fcgbp Fc gamma binding protein gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8982645 Fcgbp Fc gamma binding protein gene DOID:1342 congenital hypoplastic anemia ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8982645 Fcgbp Fc gamma binding protein gene DOID:2340 craniosynostosis ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8982645 Fcgbp Fc gamma binding protein gene DOID:630 genetic disease ISO RGD:1350128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982645 Fcgbp Fc gamma binding protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1350128 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8982645 Fcgbp Fc gamma binding protein gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8982645 Fcgbp Fc gamma binding protein gene DOID:9269 maple syrup urine disease ISO RGD:1350128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8982645 Fcgbp Fc gamma binding protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350128 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8982678 Comtd1 catechol-O-methyltransferase domain containing 1 gene DOID:630 genetic disease ISO RGD:1315279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982678 Comtd1 catechol-O-methyltransferase domain containing 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1315279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 8982690 Rab40c RAB40C, member RAS oncogene family gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1349011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8982690 Rab40c RAB40C, member RAS oncogene family gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1349011 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8982690 Rab40c RAB40C, member RAS oncogene family gene DOID:1826 epilepsy ISO RGD:1349011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8982690 Rab40c RAB40C, member RAS oncogene family gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1349011 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8982690 Rab40c RAB40C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1349011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982705 Etf1 eukaryotic translation termination factor 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1313906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8982705 Etf1 eukaryotic translation termination factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313906 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8982705 Etf1 eukaryotic translation termination factor 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1313906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 8982705 Etf1 eukaryotic translation termination factor 1 gene DOID:630 genetic disease ISO RGD:1313906 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982705 Etf1 eukaryotic translation termination factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8982705 Etf1 eukaryotic translation termination factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313906 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8982731 Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050690 brachyolmia ISO RGD:1315952 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Brachyolmia PMID:22791835|PMID:23633440|PMID:24033266|PMID:25741868|PMID:28492532 8982731 Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1315952 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:14526373|PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8982731 Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type ISO RGD:1315952 D RGD:7240710 20180130 OMIM 8982731 Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type ISO RGD:1315952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type PMID:16199547|PMID:17576681|PMID:19474428|PMID:22791835|PMID:23633440|PMID:23824674|PMID:24033266|PMID:25326635|PMID:25594860|PMID:25741868|PMID:28492532|PMID:31313512|PMID:9536098|PMID:9714015|PMID:9771708 8982731 Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1315952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:22993021|PMID:23331837|PMID:23335809|PMID:23399955|PMID:28492532|PMID:9286463|PMID:9467011 8982731 Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 gene DOID:630 genetic disease ISO RGD:1315952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:0050827 rheumatic heart disease ISO RGD:3831 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:0060457 posterior polymorphous corneal dystrophy ISO RGD:1299953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy PMID:25741868 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1299953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR | ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:25741868 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:0110857 posterior polymorphous corneal dystrophy 3 ISO RGD:1299953 D RGD:7240710 20180130 OMIM 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:0110857 posterior polymorphous corneal dystrophy 3 ISO RGD:1299953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 3 PMID:12654361|PMID:16252232|PMID:23599324|PMID:25741868|PMID:28492532|PMID:36613650 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:1686 glaucoma ISO RGD:1299953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:2566 corneal dystrophy ISO RGD:1299953 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corneal dystrophy PMID:25741868 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:321 tropical spastic paraparesis ISO RGD:1552190 D RGD:9068941 20220825 MouseDO OMIM:159580 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:5773 oral submucous fibrosis ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26934322 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:630 genetic disease ISO RGD:1299953 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:8541 Sezary's disease ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9000918 Disease Progression ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9002352 Corneal Dystrophy, Fuchs Endothelial, 6 ISO RGD:1299953 D RGD:7240710 20180130 OMIM 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9002352 Corneal Dystrophy, Fuchs Endothelial, 6 ISO RGD:1299953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 6 PMID:20036349|PMID:23599324|PMID:25741868|PMID:26622166|PMID:28492532|PMID:33116287 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18622689 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954225 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18622689 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1299953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19839049|PMID:21501481 8982754 Zeb1 zinc finger E-box binding homeobox 1 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:3831 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8982786 Hexa hexosaminidase subunit alpha gene DOID:0110225 Brugada syndrome 8 ISO RGD:1352150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 8982786 Hexa hexosaminidase subunit alpha gene DOID:10579 leukodystrophy ISO RGD:1352150 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:20363167|PMID:22789865|PMID:24767253|PMID:25606403|PMID:25741868|PMID:28492532 8982786 Hexa hexosaminidase subunit alpha gene DOID:1059 intellectual disability ISO RGD:1352150 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10571007|PMID:11463833|PMID:1301938|PMID:1307230|PMID:14727180|PMID:16088929|PMID:16352452|PMID:1830584|PMID:1833974|PMID:20301397|PMID:20672374|PMID:21228398|PMID:22441121|PMID:22723944|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23852624|PMID:24033266|PMID:24374108|PMID:24518553|PMID:24940364|PMID:25287655|PMID:25557439|PMID:25741868|PMID:26467025|PMID:27033294|PMID:27054707|PMID:27896118|PMID:27959697|PMID:2824459|PMID:2848800|PMID:28492532|PMID:28503624|PMID:31293106|PMID:36907859|PMID:8230592|PMID:8352284|PMID:8488832|PMID:8490625 8982786 Hexa hexosaminidase subunit alpha gene DOID:2717 Bloom syndrome ISO RGD:1352150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8982786 Hexa hexosaminidase subunit alpha gene DOID:3320 Tay-Sachs disease ISO RGD:1352150 D RGD:7240710 20180130 OMIM 8982786 Hexa hexosaminidase subunit alpha gene DOID:3320 Tay-Sachs disease ISO RGD:1352150 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar Annotator: match by term: Tay-sachs disease, juvenile/adult PMID:10083731|PMID:10464605|PMID:10571007|PMID:10584247|PMID:10852376|PMID:11161796|PMID:11317368|PMID:11463833|PMID:11596984|PMID:11707436|PMID:12027830|PMID:12108829|PMID:12180151|PMID:12202988|PMID:12689698|PMID:1269177|PMID:1301189|PMID:1301190|PMID:1301937|PMID:1301938|PMID:1301958|PMID:1302612|PMID:1307230|PMID:1318511|PMID:1322637|PMID:1384323|PMID:1387685|PMID:1415222|PMID:14566483|PMID:14577003|PMID:14648242|PMID:14685153|PMID:14724290|PMID:14727180|PMID:1483696|PMID:15065574|PMID:15108204|PMID:1532289|PMID:15714079|PMID:16088929|PMID:16199547|PMID:16352452|PMID:16434676|PMID:16698036|PMID:16948947|PMID:17001642|PMID:17015493|PMID:17237499|PMID:17259242|PMID:17576681|PMID:1827944|PMID:1827945|PMID:1830584|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18358410|PMID:1837283|PMID:18490185|PMID:18648917|PMID:19091716|PMID:19156839|PMID:19644708|PMID:19815695|PMID:19858779|PMID:1996872|PMID:20100466|PMID:20301350|PMID:20301397|PMID:20363167|PMID:20672374|PMID:20926324|PMID:21228398|PMID:2137287|PMID:2139660|PMID:2140574|PMID:2141777|PMID:2144098|PMID:2145759|PMID:21567908|PMID:21796138|PMID:21937992|PMID:21967858|PMID:22006919|PMID:22344438|PMID:22390110|PMID:22441121|PMID:22723944|PMID:2278539|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23035047|PMID:23359698|PMID:23820084|PMID:23852624|PMID:24033266|PMID:24088041|PMID:24374108|PMID:24498621|PMID:24518553|PMID:24583203|PMID:24767253|PMID:24940364|PMID:24953648|PMID:25041270|PMID:2521932|PMID:2522660|PMID:2522679|PMID:25287655|PMID:2531748|PMID:25326635|PMID:25525159|PMID:25557439|PMID:25606403|PMID:25640679|PMID:25741868|PMID:25741876|PMID:25860343|PMID:26350204|PMID:26467025|PMID:26633545|PMID:27033294|PMID:27054707|PMID:27362553|PMID:27682588|PMID:27896118|PMID:27959697|PMID:2824459|PMID:28359061|PMID:2837213|PMID:2848800|PMID:28492532|PMID:28503624|PMID:28739864|PMID:29214523|PMID:2934978|PMID:29451896|PMID:29482223|PMID:2954459|PMID:2961848|PMID:2970528|PMID:2973311|PMID:2973464|PMID:29973161|PMID:30506202|PMID:31069529|PMID:31076878|PMID:31130284|PMID:31242539|PMID:31293106|PMID:31367523|PMID:31388111|PMID:31428437|PMID:31839005|PMID:32529985|PMID:32968423|PMID:33083013|PMID:33240792|PMID:33426165|PMID:33547378|PMID:3362213|PMID:3375249|PMID:33811753|PMID:34288098|PMID:34302356|PMID:34426522|PMID:34440436|PMID:34554397|PMID:35186388|PMID:36907859|PMID:3754980|PMID:3837850|PMID:6236221|PMID:6959123|PMID:7063277|PMID:7551830|PMID:7717398|PMID:7749419|PMID:7827134|PMID:7837766|PMID:7858168|PMID:7898712|PMID:7902672|PMID:7951261|PMID:803011|PMID:8044648|PMID:8081943|PMID:8111418|PMID:8123671|PMID:8230592|PMID:8257995|PMID:8326491|PMID:8328462|PMID:8328470|PMID:8343225|PMID:8352284|PMID:8397824|PMID:8444467|PMID:8445615|PMID:8484765|PMID:8488832|PMID:8490625|PMID:8581357|PMID:8672428|PMID:8673609|PMID:8730294|PMID:8757036|PMID:8995368|PMID:9090523|PMID:9090529|PMID:9150157|PMID:9153525|PMID:9169471|PMID:9222766|PMID:9272736|PMID:9338583|PMID:9401008|PMID:9536098|PMID:9603435|PMID:9694901|PMID:9851891 8982786 Hexa hexosaminidase subunit alpha gene DOID:3321 GM2 gangliosidosis ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset PMID:10852376|PMID:14724290|PMID:1483696|PMID:15714079|PMID:17576681|PMID:18490185|PMID:19815695|PMID:20363167|PMID:21228398|PMID:2145759|PMID:22006919|PMID:2278539|PMID:22975760|PMID:2522660|PMID:2522679|PMID:25741868|PMID:27033294|PMID:27682588|PMID:28492532|PMID:31076878|PMID:31367523|PMID:6236221|PMID:8328462|PMID:8343225|PMID:8490625|PMID:8757036|PMID:9090523|PMID:9536098 8982786 Hexa hexosaminidase subunit alpha gene DOID:4795 GM2 Gangliosidosis, AB variant ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, variant AB PMID:10571007|PMID:11463833|PMID:1301938|PMID:1307230|PMID:14727180|PMID:16088929|PMID:16352452|PMID:1830584|PMID:1833974|PMID:18358410|PMID:20301397|PMID:20672374|PMID:21228398|PMID:22441121|PMID:22723944|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23852624|PMID:24033266|PMID:24374108|PMID:24518553|PMID:24940364|PMID:25287655|PMID:25557439|PMID:25741868|PMID:27033294|PMID:27896118|PMID:27959697|PMID:2824459|PMID:2848800|PMID:28492532|PMID:28503624|PMID:33083013|PMID:8230592|PMID:8352284|PMID:8488832|PMID:8490625 8982786 Hexa hexosaminidase subunit alpha gene DOID:630 genetic disease ISO RGD:1352150 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10083731|PMID:10571007|PMID:10852376|PMID:11317368|PMID:11463833|PMID:11707436|PMID:12202988|PMID:1301190|PMID:1301938|PMID:1302612|PMID:1307230|PMID:1318511|PMID:1384323|PMID:1387685|PMID:1415222|PMID:14566483|PMID:14577003|PMID:14727180|PMID:1483696|PMID:1532289|PMID:15714079|PMID:16088929|PMID:16199547|PMID:16352452|PMID:16698036|PMID:16948947|PMID:17015493|PMID:17237499|PMID:17259242|PMID:17576681|PMID:1830584|PMID:1831451|PMID:1832817|PMID:1833974|PMID:1837283|PMID:18490185|PMID:19091716|PMID:19815695|PMID:19858779|PMID:20100466|PMID:20301350|PMID:20301397|PMID:20363167|PMID:20672374|PMID:21228398|PMID:2137287|PMID:2140574|PMID:2144098|PMID:2145759|PMID:22006919|PMID:22344438|PMID:22441121|PMID:22723944|PMID:2278539|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23359698|PMID:23852624|PMID:24033266|PMID:24088041|PMID:24374108|PMID:24498621|PMID:24518553|PMID:24583203|PMID:24767253|PMID:24940364|PMID:24953648|PMID:25041270|PMID:2521932|PMID:2522660|PMID:2522679|PMID:25287655|PMID:25557439|PMID:25606403|PMID:25741868|PMID:25741876|PMID:26467025|PMID:26633545|PMID:27033294|PMID:27682588|PMID:27896118|PMID:27959697|PMID:2824459|PMID:28359061|PMID:2848800|PMID:28492532|PMID:28503624|PMID:29214523|PMID:2961848|PMID:2970528|PMID:2973311|PMID:31069529|PMID:31076878|PMID:31367523|PMID:32529985|PMID:33426165|PMID:34288098|PMID:6236221|PMID:6959123|PMID:7551830|PMID:7858168|PMID:8123671|PMID:8230592|PMID:8326491|PMID:8328462|PMID:8343225|PMID:8352284|PMID:8444467|PMID:8488832|PMID:8490625|PMID:8672428|PMID:8673609|PMID:8730294|PMID:8995368|PMID:9090523|PMID:9169471|PMID:9272736|PMID:9338583|PMID:9401008|PMID:9536098|PMID:9603435|PMID:9694901 8982786 Hexa hexosaminidase subunit alpha gene DOID:9001313 Gm2-Gangliosidosis, Adult Chronic Type ISO RGD:1352150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gm2-gangliosidosis, adult | ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset PMID:10852376|PMID:14566483|PMID:14577003|PMID:1483696|PMID:1532289|PMID:15714079|PMID:16088929|PMID:17015493|PMID:17237499|PMID:17576681|PMID:18490185|PMID:19815695|PMID:20363167|PMID:21228398|PMID:2145759|PMID:22006919|PMID:2278539|PMID:22789865|PMID:22975760|PMID:2522660|PMID:2522679|PMID:25741868|PMID:27033294|PMID:27682588|PMID:28492532|PMID:31076878|PMID:6236221|PMID:8328462|PMID:8343225|PMID:8490625|PMID:9536098 8982786 Hexa hexosaminidase subunit alpha gene DOID:9001497 Tay-Sachs Disease, Juvenile ISO RGD:1352150 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tay-sachs disease, juvenile PMID:1301189|PMID:25741868 8982786 Hexa hexosaminidase subunit alpha gene DOID:9003240 Tay-Sachs Disease, Variant B1 ISO RGD:1352150 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant PMID:10584247|PMID:1302612|PMID:1318511|PMID:14577003|PMID:16088929|PMID:17015493|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18490185|PMID:20100466|PMID:20301350|PMID:2137287|PMID:22441121|PMID:22789865|PMID:23359698|PMID:24088041|PMID:24953648|PMID:25041270|PMID:2521932|PMID:25741868|PMID:25741876|PMID:27896118|PMID:28359061|PMID:28492532|PMID:2961848|PMID:2973311|PMID:30506202|PMID:31367523|PMID:34288098|PMID:7551830|PMID:8081943|PMID:8111418|PMID:8730294|PMID:9272736 8982786 Hexa hexosaminidase subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352150 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8982786 Hexa hexosaminidase subunit alpha gene DOID:9006548 Gm2-Gangliosidosis, Variant B1 ISO RGD:1352150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gm2-gangliosidosis, variant b1 PMID:1532289 8982786 Hexa hexosaminidase subunit alpha gene DOID:9008086 Developmental Disabilities ISO RGD:1352150 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:1318511|PMID:16088929|PMID:17015493|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18490185|PMID:20100466|PMID:20301350|PMID:2137287|PMID:22441121|PMID:22789865|PMID:23359698|PMID:24953648|PMID:25041270|PMID:2521932|PMID:25741868|PMID:25741876|PMID:28359061|PMID:28492532|PMID:2961848|PMID:2973311|PMID:7551830|PMID:8730294 8982786 Hexa hexosaminidase subunit alpha gene DOID:9256 colorectal cancer ISO RGD:1352150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8982804 Ppie peptidylprolyl isomerase E gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8982804 Ppie peptidylprolyl isomerase E gene DOID:630 genetic disease ISO RGD:1322860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1605644 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29419819|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:32483926|PMID:33083013|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1605644 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31831025|PMID:31964843|PMID:32203225|PMID:32483926|PMID:33083013|PMID:33708531|PMID:33955040|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:0080623 Heimler syndrome 1 ISO RGD:1605644 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31628608|PMID:31831025|PMID:31964843|PMID:32203225|PMID:32483926|PMID:33083013|PMID:33708531|PMID:33955040|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:0081240 peroxisome biogenesis disorder 1B ISO RGD:1605644 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21846392|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29419819|PMID:30561787|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:32483926|PMID:33708531|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:0110441 dilated cardiomyopathy 2B ISO RGD:1605644 D RGD:7240710 20180130 OMIM 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:0110441 dilated cardiomyopathy 2B ISO RGD:1605644 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2B PMID:17576681|PMID:21965549|PMID:24033266|PMID:25741868|PMID:27114410|PMID:28492532|PMID:30391667|PMID:9536098 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:10907 microcephaly ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:630 genetic disease ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:27302843|PMID:28492532|PMID:30733538|PMID:31374812|PMID:31831025|PMID:32203225|PMID:34513757|PMID:9398847|PMID:9398848 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:8501 fundus dystrophy ISO RGD:1605644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1605644 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31831025|PMID:31964843|PMID:32203225|PMID:32483926|PMID:33083013|PMID:33708531|PMID:33955040|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:905 Zellweger syndrome ISO RGD:1605644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28492532|PMID:29261186|PMID:30561787|PMID:30755224|PMID:31628608|PMID:31831025|PMID:9398847|PMID:9398848|PMID:9536098 8982825 Gatad1 GATA zinc finger domain containing 1 gene DOID:905 Zellweger syndrome ISO RGD:1605644 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10447258|PMID:11389485|PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16088892|PMID:16141001|PMID:16199547|PMID:17055079|PMID:17576681|PMID:19105186|PMID:20952722|PMID:21031596|PMID:21844578|PMID:21846392|PMID:25326635|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26387595|PMID:26467025|PMID:27124789|PMID:27302843|PMID:27353947|PMID:27469511|PMID:27848944|PMID:28446956|PMID:28492532|PMID:29261186|PMID:29419819|PMID:30561787|PMID:30733538|PMID:30755224|PMID:31374812|PMID:31628608|PMID:31831025|PMID:31964843|PMID:32203225|PMID:32483926|PMID:33083013|PMID:33708531|PMID:33955040|PMID:33955814|PMID:34513757|PMID:9398847|PMID:9398848|PMID:9536098 8982833 Ppox protoporphyrinogen oxidase gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8982833 Ppox protoporphyrinogen oxidase gene DOID:1540 parathyroid carcinoma ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8982833 Ppox protoporphyrinogen oxidase gene DOID:3890 acute intermittent porphyria ISO RGD:1321507 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.R59W (mouse) PMID:11929050|REF_RGD_ID:4145363 8982833 Ppox protoporphyrinogen oxidase gene DOID:4346 variegate porphyria ISO RGD:1321506 D RGD:7240710 20180207 OMIM 8982833 Ppox protoporphyrinogen oxidase gene DOID:4346 variegate porphyria ISO RGD:1321506 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Variegate porphyria PMID:10401000|PMID:10486317|PMID:10870850|PMID:11173967|PMID:11286631|PMID:11298551|PMID:11348478|PMID:11929051|PMID:12380696|PMID:12655566|PMID:12922165|PMID:15327556|PMID:16433813|PMID:17576681|PMID:18570668|PMID:19460837|PMID:1946837|PMID:19656455|PMID:19656457|PMID:19845869|PMID:21048046|PMID:21910705|PMID:23409300|PMID:24033266|PMID:25445397|PMID:25714468|PMID:25741868|PMID:27982422|PMID:28492532|PMID:28653968|PMID:29130490|PMID:30476629|PMID:30594473|PMID:33159949|PMID:3319294|PMID:8290408|PMID:8673113|PMID:8817334|PMID:8852667|PMID:9536098|PMID:9540991|PMID:9738863|PMID:9811936|PMID:9829909 8982833 Ppox protoporphyrinogen oxidase gene DOID:630 genetic disease ISO RGD:1321506 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10486317|PMID:11474578|PMID:11929051|PMID:12859407|PMID:21048046|PMID:24073655|PMID:28492532|PMID:9763307 8982833 Ppox protoporphyrinogen oxidase gene DOID:6364 migraine ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Migraine PMID:25741868 8982833 Ppox protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321506 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G232R (human) PMID:8852667|REF_RGD_ID:1599172 8982833 Ppox protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321506 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:10486317|REF_RGD_ID:1599176 8982833 Ppox protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321506 D RGD:9068941 20200609 RGD DNA:transition:cds:p.R59W (human) PMID:9254745|REF_RGD_ID:1599174 8982833 Ppox protoporphyrinogen oxidase gene DOID:9005584 Hepatic Porphyrias ISO RGD:1321507 D RGD:9068941 20200609 RGD protein:decreased activity:liver, kidney (mouse) PMID:9431441|REF_RGD_ID:4145281 8982833 Ppox protoporphyrinogen oxidase gene DOID:9007255 Variegate Porphyria, Childhood-Onset ISO RGD:1321506 D RGD:7240710 20230906 OMIM 8982833 Ppox protoporphyrinogen oxidase gene DOID:9007255 Variegate Porphyria, Childhood-Onset ISO RGD:1321506 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Variegate porphyria, childhood-onset PMID:10401000|PMID:10486317|PMID:10870850|PMID:11286631|PMID:11298551|PMID:12922165|PMID:21048046|PMID:21910705|PMID:2317449|PMID:23409300|PMID:25741868|PMID:28492532|PMID:29130490|PMID:33159949|PMID:3319294|PMID:8290408|PMID:8673113|PMID:8817334|PMID:9540991|PMID:9738863|PMID:9811936 8982833 Ppox protoporphyrinogen oxidase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1321506 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8982833 Ppox protoporphyrinogen oxidase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321506 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8982854 Cdcp2 CUB domain containing protein 2 gene DOID:630 genetic disease ISO RGD:1603885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982872 Xkr4 XK related 4 gene DOID:303 substance-related disorder ISO RGD:1606184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8982872 Xkr4 XK related 4 gene DOID:630 genetic disease ISO RGD:1606184 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982880 Il21r interleukin 21 receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:1312687 D RGD:9068941 20200609 RGD protein:increased expression:gut mucosa,leukocytes, mononuclear PMID:19322899|REF_RGD_ID:6892935 8982880 Il21r interleukin 21 receptor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1312687 D RGD:9068941 20200609 RGD diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region PMID:11821949|REF_RGD_ID:1600111 8982880 Il21r interleukin 21 receptor gene DOID:0081267 graft-versus-host disease ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:21596854|REF_RGD_ID:6892927 8982880 Il21r interleukin 21 receptor gene DOID:0111946 immunodeficiency 31C ISO RGD:1312687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31C PMID:25741868 8982880 Il21r interleukin 21 receptor gene DOID:0111982 immunodeficiency 56 ISO RGD:1312687 D RGD:7240710 20180130 OMIM 8982880 Il21r interleukin 21 receptor gene DOID:0111982 immunodeficiency 56 ISO RGD:1312687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IL21R immunodeficiency PMID:16199547|PMID:17576681|PMID:22235133|PMID:23440042|PMID:24033266|PMID:25398835|PMID:25741868|PMID:26193622|PMID:28492532|PMID:33929673|PMID:9536098 8982880 Il21r interleukin 21 receptor gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19478140|REF_RGD_ID:6892934 8982880 Il21r interleukin 21 receptor gene DOID:12177 common variable immunodeficiency ISO RGD:1312687 D RGD:9068941 20200609 RGD DNA:SNPs:exons: PMID:18254984|REF_RGD_ID:6892941 8982880 Il21r interleukin 21 receptor gene DOID:13141 uveitis ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:21593413|REF_RGD_ID:6892928 8982880 Il21r interleukin 21 receptor gene DOID:13141 uveitis ISO RGD:1312688 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lymph node, spleen PMID:20057909|REF_RGD_ID:6892932 8982880 Il21r interleukin 21 receptor gene DOID:13241 Behcet's disease ISO RGD:1312687 D RGD:9068941 20200609 RGD PMID:21724243|REF_RGD_ID:6892926 8982880 Il21r interleukin 21 receptor gene DOID:13375 temporal arteritis ISO RGD:1312687 D RGD:9068941 20200609 RGD PMID:22147555|REF_RGD_ID:6892962 8982880 Il21r interleukin 21 receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 8982880 Il21r interleukin 21 receptor gene DOID:2377 multiple sclerosis ISO RGD:1312687 D RGD:9068941 20200609 RGD PMID:21281812|REF_RGD_ID:6892963 8982880 Il21r interleukin 21 receptor gene DOID:2377 multiple sclerosis ISO RGD:1312687 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:20072140|REF_RGD_ID:6892695 8982880 Il21r interleukin 21 receptor gene DOID:3310 atopic dermatitis ISO RGD:1312687 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:19075398|REF_RGD_ID:6892938 8982880 Il21r interleukin 21 receptor gene DOID:3310 atopic dermatitis ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19075398|REF_RGD_ID:6892938 8982880 Il21r interleukin 21 receptor gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1312687 D RGD:9068941 20200609 RGD PMID:22530560|REF_RGD_ID:6892924 8982880 Il21r interleukin 21 receptor gene DOID:630 genetic disease ISO RGD:1312687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22235133|PMID:25741868|PMID:28492532 8982880 Il21r interleukin 21 receptor gene DOID:707 B-cell lymphoma ISO RGD:1312687 D RGD:9068941 20200609 RGD diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region PMID:11821949|REF_RGD_ID:1600111 8982880 Il21r interleukin 21 receptor gene DOID:7148 rheumatoid arthritis ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19342640|REF_RGD_ID:6892964 8982880 Il21r interleukin 21 receptor gene DOID:820 myocarditis no_association ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:18546146|REF_RGD_ID:6892939 8982880 Il21r interleukin 21 receptor gene DOID:8778 Crohn's disease ISO RGD:1312687 D RGD:9068941 20200609 RGD DNA:altered methylation: : PMID:22021194|REF_RGD_ID:6482789 8982880 Il21r interleukin 21 receptor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:17920666|REF_RGD_ID:6892942 8982880 Il21r interleukin 21 receptor gene DOID:9001953 Pneumovirus Infections ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:22238461|REF_RGD_ID:6892925 8982880 Il21r interleukin 21 receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis disease_progression ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:18353312|REF_RGD_ID:6892940 8982880 Il21r interleukin 21 receptor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis no_association ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:18546146|REF_RGD_ID:6892939 8982880 Il21r interleukin 21 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1312687 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: IgE responsiveness, atopic | ClinVar Annotator: match by term: Ige, elevated level of PMID:12700598|PMID:17015683|PMID:25741868|PMID:28492532 8982880 Il21r interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1312687 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17911475 8982880 Il21r interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1312687 D RGD:9068941 20200609 RGD DNA:polymorphism: : rs3093301 (human) PMID:19644854|REF_RGD_ID:6892933 8982880 Il21r interleukin 21 receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19164519|PMID:20424514|REF_RGD_ID:6892931|REF_RGD_ID:6892937 8982880 Il21r interleukin 21 receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:1312688 D RGD:9068941 20200609 RGD PMID:19208913|REF_RGD_ID:6892930 8982899 Tjp3 tight junction protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1319483 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8982899 Tjp3 tight junction protein 3 gene DOID:0080600 COVID-19 ISO RGD:1319483 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8982899 Tjp3 tight junction protein 3 gene DOID:13938 amenorrhea ISO RGD:1319483 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8982899 Tjp3 tight junction protein 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8982936 Ccnyl1 cyclin Y like 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1606146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8982936 Ccnyl1 cyclin Y like 1 gene DOID:630 genetic disease ISO RGD:1606146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982936 Ccnyl1 cyclin Y like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8982958 Lrig2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:0050816 urofacial syndrome ISO RGD:1319957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8982958 Lrig2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:0080690 RASopathy ISO RGD:1319957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8982958 Lrig2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1319957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8982958 Lrig2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:13938 amenorrhea ISO RGD:1319957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8982958 Lrig2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:630 genetic disease ISO RGD:1319957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8982958 Lrig2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:9000436 Urofacial Syndrome 2 ISO RGD:1319957 D RGD:7240710 20180130 OMIM 8982958 Lrig2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:9000436 Urofacial Syndrome 2 ISO RGD:1319957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Urofacial syndrome 2 PMID:23313374|PMID:25741868 8982958 Lrig2 leucine rich repeats and immunoglobulin like domains 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1319957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741906 8982980 Tigd3 tigger transposable element derived 3 gene DOID:1059 intellectual disability ISO RGD:1313398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8982980 Tigd3 tigger transposable element derived 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8982980 Tigd3 tigger transposable element derived 3 gene DOID:2746 glycogen storage disease V ISO RGD:1313398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8982980 Tigd3 tigger transposable element derived 3 gene DOID:3070 high grade glioma ISO RGD:1313398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8982980 Tigd3 tigger transposable element derived 3 gene DOID:630 genetic disease ISO RGD:1313398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8982980 Tigd3 tigger transposable element derived 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1313398 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8982980 Tigd3 tigger transposable element derived 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1313398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8982989 Tcfl5 transcription factor like 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1348705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8982989 Tcfl5 transcription factor like 5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8982989 Tcfl5 transcription factor like 5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1348705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8982989 Tcfl5 transcription factor like 5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1348705 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 8982989 Tcfl5 transcription factor like 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1348705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 8982989 Tcfl5 transcription factor like 5 gene DOID:12721 multiple epiphyseal dysplasia ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia, Dominant 8982989 Tcfl5 transcription factor like 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 8982989 Tcfl5 transcription factor like 5 gene DOID:1826 epilepsy ISO RGD:1348705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 8982989 Tcfl5 transcription factor like 5 gene DOID:630 genetic disease ISO RGD:1348705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983009 Mdfi MyoD family inhibitor gene DOID:0050444 infantile Refsum disease ISO RGD:1353332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8983009 Mdfi MyoD family inhibitor gene DOID:630 genetic disease ISO RGD:1353332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983009 Mdfi MyoD family inhibitor gene DOID:905 Zellweger syndrome ISO RGD:1353332 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8983031 Fndc9 fibronectin type III domain containing 9 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1606861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 8983031 Fndc9 fibronectin type III domain containing 9 gene DOID:630 genetic disease ISO RGD:1606861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983042 Sohlh2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 gene DOID:630 genetic disease ISO RGD:1603036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983057 Cby2 chibby family member 2 gene DOID:630 genetic disease ISO RGD:1606126 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:736367 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11772903|PMID:11914043|PMID:11978663|PMID:12099699|PMID:12618559|PMID:12677187|PMID:14764823|PMID:15001545|PMID:15028942|PMID:15111508|PMID:15170499|PMID:15277425|PMID:15754742|PMID:15883474|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19496967|PMID:19515026|PMID:19817786|PMID:19855005|PMID:20621032|PMID:21569088|PMID:23331010|PMID:24097065|PMID:24464100|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26287533|PMID:26467025|PMID:27386488|PMID:27535533|PMID:27879211|PMID:27884173|PMID:28095440|PMID:28436541|PMID:28492532|PMID:28609558|PMID:29396371|PMID:29439679|PMID:30709774|PMID:30930126|PMID:31366392|PMID:34988346|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0050877 pancreatic agenesis ISO RGD:736367 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pancreatic agenesis, congenital | ClinVar Annotator: match by term: Pancreatic hypoplasia PMID:10720084|PMID:11270685|PMID:11772903|PMID:11978663|PMID:12099699|PMID:12677187|PMID:14764823|PMID:15001545|PMID:15028942|PMID:15111508|PMID:15883474|PMID:15885879|PMID:19228875|PMID:19817786|PMID:19855005|PMID:21569088|PMID:24033266|PMID:24097065|PMID:24464100|PMID:25741868|PMID:26059258|PMID:26287533|PMID:26467025|PMID:27386488|PMID:27420379|PMID:28436541|PMID:28492532|PMID:29396371|PMID:29439679|PMID:31264968|PMID:31366392|PMID:34988346 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:736367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:12970316|PMID:15001545|PMID:19496967|PMID:20009086|PMID:20621032|PMID:25741868|PMID:26467025|PMID:28436541|PMID:28492532|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:62387 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell of pancreas (rat) PMID:12210084|REF_RGD_ID:2311232 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:736367 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11914043|PMID:12618559|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19515026|PMID:21569088|PMID:24097065|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26467025|PMID:27535533|PMID:27879211|PMID:27879214|PMID:27884173|PMID:28095440|PMID:28492532|PMID:28609558|PMID:29439679|PMID:30709774|PMID:30930126|PMID:31264968 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0111103 maturity-onset diabetes of the young type 4 ISO RGD:736367 D RGD:7240710 20240320 OMIM 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:0111103 maturity-onset diabetes of the young type 4 ISO RGD:736367 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 4 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type IV PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11772903|PMID:11914043|PMID:11978663|PMID:12099699|PMID:12618559|PMID:12677187|PMID:12970316|PMID:14764823|PMID:15001545|PMID:15028942|PMID:15111508|PMID:15170499|PMID:15277425|PMID:15754742|PMID:15883474|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19496967|PMID:19515026|PMID:19817786|PMID:19855005|PMID:20009086|PMID:20621032|PMID:21569088|PMID:24033266|PMID:24097065|PMID:24464100|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26059258|PMID:26226118|PMID:26287533|PMID:26467025|PMID:27386488|PMID:27420379|PMID:27535533|PMID:27879211|PMID:27879214|PMID:27884173|PMID:27913849|PMID:28095440|PMID:28436541|PMID:28492532|PMID:28609558|PMID:29396371|PMID:29439679|PMID:30192042|PMID:30709774|PMID:30930126|PMID:31264968|PMID:31366392|PMID:32041611|PMID:34135026|PMID:34988346|PMID:36208030|PMID:37652665|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:11716 prediabetes syndrome ISO RGD:736368 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreas, pancreatic islet (mouse) PMID:17673521|REF_RGD_ID:2311230 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:11717 neonatal diabetes ISO RGD:736367 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:25741868|PMID:28492532 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:1793 pancreatic cancer ISO RGD:736367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19077462|PMID:25086665|PMID:26098869 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:3526 cerebral infarction ISO RGD:736367 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome; DNA:duplication:5' utr:-108 3G>4G (human) PMID:18506375|REF_RGD_ID:2311309 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:3891 placental insufficiency ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta (rat) PMID:17893880|REF_RGD_ID:2311215 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:62387 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:decreased expression:pancreatic islet (rat) PMID:10512364|REF_RGD_ID:2311207 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet (rat) PMID:12438314|REF_RGD_ID:1600277 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:736367 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; (human) PMID:17131142|REF_RGD_ID:2308899 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:736368 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; (mouse) PMID:16983179|REF_RGD_ID:2311206 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:4195 hyperglycemia ISO RGD:736368 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:stem cell (mouse) PMID:19245309|REF_RGD_ID:2311204 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9000156 Metaplasia ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreatic acinus (rat) PMID:17003479|REF_RGD_ID:2311231 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas (rat) PMID:12606515|REF_RGD_ID:2311220 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:62387 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:18464933|REF_RGD_ID:2311214 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9003314 Pancreatic Agenesis 1 ISO RGD:736367 D RGD:7240710 20240320 OMIM 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9003314 Pancreatic Agenesis 1 ISO RGD:736367 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PDX1-Related Disorder | ClinVar Annotator: match by term: Pancreatic agenesis 1 PMID:12970316|PMID:15001545|PMID:19496967|PMID:20009086|PMID:20301620|PMID:20621032|PMID:25741868|PMID:26467025|PMID:28436541|PMID:28492532|PMID:31264968|PMID:8506821|PMID:8988180|PMID:9326926|PMID:9649577 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62387 D RGD:9068941 20200609 RGD PMID:17460716|REF_RGD_ID:2311224 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62387 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:17235568|REF_RGD_ID:2311225 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62387 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic delta cell (rat) PMID:14988244|REF_RGD_ID:1357906 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736367 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736367 D RGD:9068941 20200609 RGD PMID:17226789|REF_RGD_ID:2311311 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736368 D RGD:9068941 20200609 RGD PMID:15561947|REF_RGD_ID:2311226 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9007692 Insulin Resistance ISO RGD:62387 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct (rat) PMID:16046294|REF_RGD_ID:2311223 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9007692 Insulin Resistance ISO RGD:736368 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:pancreatic islet (mouse) PMID:18288891|REF_RGD_ID:2311222 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9351 diabetes mellitus ISO RGD:736367 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11772903|PMID:11914043|PMID:11978663|PMID:12099699|PMID:12618559|PMID:12677187|PMID:14764823|PMID:15001545|PMID:15028942|PMID:15111508|PMID:15170499|PMID:15277425|PMID:15754742|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19515026|PMID:21569088|PMID:24097065|PMID:24464100|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26287533|PMID:26467025|PMID:27535533|PMID:27879211|PMID:27884173|PMID:28095440|PMID:28492532|PMID:28609558|PMID:29439679|PMID:30709774|PMID:30930126|PMID:31264968|PMID:34988346 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736367 D RGD:7240710 20240320 OMIM 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736367 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10545530|PMID:10545531|PMID:10720084|PMID:11022198|PMID:11270685|PMID:11315851|PMID:11914043|PMID:12618559|PMID:12970316|PMID:14764823|PMID:15001545|PMID:15170499|PMID:15277425|PMID:15754742|PMID:16092045|PMID:16741735|PMID:17126328|PMID:17592437|PMID:19228875|PMID:19515026|PMID:20301620|PMID:21569088|PMID:24097065|PMID:25041077|PMID:25741868|PMID:26058934|PMID:26467025|PMID:27535533|PMID:27879211|PMID:27879214|PMID:27884173|PMID:28095440|PMID:28492532|PMID:28609558|PMID:29439679|PMID:30709774|PMID:30930126|PMID:31264968 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:736367 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:D76N (human) PMID:15170499|REF_RGD_ID:2311308 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736368 D RGD:9068941 20200609 RGD PMID:17383157|REF_RGD_ID:2311310 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:736368 D RGD:9068941 20220825 MouseDO OMIM:222100 8983068 Pdx1 pancreatic and duodenal homeobox 1 gene DOID:9970 obesity ISO RGD:736367 D RGD:9068941 20200609 RGD mRNA:increased expression:exocrine pancreas (human) PMID:15979049|REF_RGD_ID:1625044 8983074 Znf609 zinc finger protein 609 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1349333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 8983074 Znf609 zinc finger protein 609 gene DOID:11054 urinary bladder cancer ISO RGD:1349333 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35567596 8983074 Znf609 zinc finger protein 609 gene DOID:2717 Bloom syndrome ISO RGD:1349333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8983074 Znf609 zinc finger protein 609 gene DOID:630 genetic disease ISO RGD:1349333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983074 Znf609 zinc finger protein 609 gene DOID:9256 colorectal cancer ISO RGD:1349333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8983091 Arhgef11 Rho guanine nucleotide exchange factor 11 gene DOID:1540 parathyroid carcinoma ISO RGD:734056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8983091 Arhgef11 Rho guanine nucleotide exchange factor 11 gene DOID:630 genetic disease ISO RGD:734056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983091 Arhgef11 Rho guanine nucleotide exchange factor 11 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8983139 Spz1 spermatogenic leucine zipper 1 gene DOID:630 genetic disease ISO RGD:1606768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983139 Spz1 spermatogenic leucine zipper 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606768 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8983139 Spz1 spermatogenic leucine zipper 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:1059 intellectual disability ISO RGD:1320034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:1936 atherosclerosis disease_progression ISO RGD:1320035 D RGD:9068941 20230831 RGD protein:increased activity:liver (mouse) PMID:19307695|REF_RGD_ID:401794447 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:3393 coronary artery disease severity ISO RGD:1320034 D RGD:9068941 20230817 RGD protein:increased expression:blood serum (human) PMID:28174167|REF_RGD_ID:401793727 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1320034 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:17070307|REF_RGD_ID:2299120 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:4450 renal cell carcinoma ISO RGD:1320034 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney (human) PMID:15682440|REF_RGD_ID:401793726 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:630 genetic disease ISO RGD:1320034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:684 hepatocellular carcinoma ISO RGD:1320034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:7693 abdominal aortic aneurysm susceptibility ISO RGD:1320034 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes:: PMID:18635682|REF_RGD_ID:329853746 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:9001747 Ventricular Dysfunction, Left disease_progression ISO RGD:1320034 D RGD:9068941 20230831 RGD protein:increased expression: blood serum (human) PMID:29872082|REF_RGD_ID:401793725 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1309606 D RGD:9068941 20230817 RGD protein:increased activity,altered activity:lung, liver (rat) PMID:27581040|REF_RGD_ID:401793717 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:9006474 Arterial Occlusive Diseases disease_progression ISO RGD:1320034 D RGD:9068941 20230817 RGD mRNA,protein:increased expression:leg blood vessel, blood serum (human) PMID:22721676|REF_RGD_ID:401793723 8983145 Nnmt nicotinamide N-methyltransferase gene DOID:9006646 Metabolic Syndrome ISO RGD:1309606 D RGD:9068941 20230817 RGD mRNA,protein:increased expression,increased activity:adipose tissue (rat) PMID:25719492|REF_RGD_ID:401793724 8983154 Cckbr cholecystokinin B receptor gene DOID:0060001 withdrawal disorder ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11880531|PMID:9496717 8983154 Cckbr cholecystokinin B receptor gene DOID:0060180 colitis ISO RGD:2290 D RGD:9068941 20200609 RGD PMID:15102523|REF_RGD_ID:2311333 8983154 Cckbr cholecystokinin B receptor gene DOID:10933 obsessive-compulsive disorder ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8878350 8983154 Cckbr cholecystokinin B receptor gene DOID:14115 toxic shock syndrome ISO RGD:2290 D RGD:9068941 20200609 RGD mRNA:increased expression:myocardium PMID:15948246|REF_RGD_ID:2311332 8983154 Cckbr cholecystokinin B receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:735565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8983154 Cckbr cholecystokinin B receptor gene DOID:1793 pancreatic cancer ISO RGD:2290 D RGD:9068941 20200609 RGD PMID:1458479|REF_RGD_ID:4110821 8983154 Cckbr cholecystokinin B receptor gene DOID:1793 pancreatic cancer ISO RGD:2290 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:8222074|REF_RGD_ID:4110822 8983154 Cckbr cholecystokinin B receptor gene DOID:1793 pancreatic cancer disease_progression ISO RGD:2290 D RGD:9068941 20200609 RGD PMID:8302799|REF_RGD_ID:4110823 8983154 Cckbr cholecystokinin B receptor gene DOID:1793 pancreatic cancer susceptibility ISO RGD:735565 D RGD:9068941 20200609 RGD PMID:15688412|REF_RGD_ID:4110829 8983154 Cckbr cholecystokinin B receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735565 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12851875|REF_RGD_ID:4110816 8983154 Cckbr cholecystokinin B receptor gene DOID:594 panic disorder ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8878350 8983154 Cckbr cholecystokinin B receptor gene DOID:594 panic disorder ISO RGD:735565 D RGD:9068941 20200609 RGD PMID:15354400|REF_RGD_ID:1358454 8983154 Cckbr cholecystokinin B receptor gene DOID:630 genetic disease ISO RGD:735565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983154 Cckbr cholecystokinin B receptor gene DOID:9000641 Pain ISO RGD:2290 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16527403|REF_RGD_ID:2311323 8983154 Cckbr cholecystokinin B receptor gene DOID:9002211 Hyperalgesia ISO RGD:2290 D RGD:9068941 20200609 RGD PMID:15647484|REF_RGD_ID:1626108 8983154 Cckbr cholecystokinin B receptor gene DOID:9002211 Hyperalgesia ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11880531 8983154 Cckbr cholecystokinin B receptor gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9922984 8983154 Cckbr cholecystokinin B receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2290 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreas PMID:15161757|REF_RGD_ID:1358452 8983166 Sgta small glutamine rich tetratricopeptide repeat co-chaperone alpha gene DOID:630 genetic disease ISO RGD:735887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983166 Sgta small glutamine rich tetratricopeptide repeat co-chaperone alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8983196 Exosc9 exosome component 9 gene DOID:0112323 pontocerebellar hypoplasia type 1D ISO RGD:1317344 D RGD:7240710 20190315 OMIM 8983196 Exosc9 exosome component 9 gene DOID:0112323 pontocerebellar hypoplasia type 1D ISO RGD:1317344 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1D PMID:25741868|PMID:28492532|PMID:29727687|PMID:30125339|PMID:30690203|PMID:33040083|PMID:34782754 8983196 Exosc9 exosome component 9 gene DOID:630 genetic disease ISO RGD:1317344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8983196 Exosc9 exosome component 9 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1317344 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8983196 Exosc9 exosome component 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1344093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:0060892 late onset Parkinson's disease ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs3129882) (human) PMID:21791235|REF_RGD_ID:5490156 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:11716 prediabetes syndrome ISO RGD:1593283 D RGD:9068941 20200609 RGD mRNA:increased expression:spleen, lymphocyte PMID:3142800|REF_RGD_ID:5147592 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:1205 allergic disease ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:9104792|REF_RGD_ID:5490205 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:14115 toxic shock syndrome ISO RGD:1344093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28771573 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:14115 toxic shock syndrome ISO RGD:1344093 D RGD:9068941 20200609 RGD associated with Burns PMID:17568330|REF_RGD_ID:5490160 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:14115 toxic shock syndrome disease_progression ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:15644645|REF_RGD_ID:5490203 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:14330 Parkinson's disease ISO RGD:1344093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711177 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:14330 Parkinson's disease onset ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs3129882) (human) PMID:20711177|REF_RGD_ID:5490158 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17660530 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human) PMID:19834503|REF_RGD_ID:5490202 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:17660530|REF_RGD_ID:5490159 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:2377 multiple sclerosis ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:10527398|REF_RGD_ID:5490204 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:2841 asthma susceptibility ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:polymorphisms: : PMID:20159242|REF_RGD_ID:13506913 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1344093 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19635508|REF_RGD_ID:5490168 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:3312 bipolar disorder ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:16687443|REF_RGD_ID:5490162 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:21427211|REF_RGD_ID:5490157 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:7188 autoimmune thyroiditis ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:12126634|REF_RGD_ID:5147805 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1593283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:1344093 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1344093 D RGD:9068941 20200609 RGD PMID:8676084|REF_RGD_ID:5490166 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:9006961 Asthma and Nasal Polyps susceptibility ISO RGD:1344093 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype:introns: PMID:22391069|REF_RGD_ID:13506908 8983212 LOC102019320 mamu class II histocompatibility antigen, DR alpha chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1558302 D RGD:9068941 20200609 RGD PMID:11812739|REF_RGD_ID:5490164 8983235 LOC102019452 cytochrome b reductase 1 gene DOID:0080600 COVID-19 ISO RGD:1313951 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8983235 LOC102019452 cytochrome b reductase 1 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1313951 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8983235 LOC102019452 cytochrome b reductase 1 gene DOID:630 genetic disease ISO RGD:1313951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983252 Clstn1 calsyntenin 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1315087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8983252 Clstn1 calsyntenin 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1315087 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8983252 Clstn1 calsyntenin 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1315087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8983252 Clstn1 calsyntenin 1 gene DOID:630 genetic disease ISO RGD:1315087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983276 Rdm1 RAD52 motif containing 1 gene DOID:630 genetic disease ISO RGD:1321329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983288 Gns glucosamine (N-acetyl)-6-sulfatase gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1314172 D RGD:7240710 20191106 OMIM 8983288 Gns glucosamine (N-acetyl)-6-sulfatase gene DOID:0111402 mucopolysaccharidosis type IIID ISO RGD:1314172 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:12573255|PMID:12624138|PMID:16199547|PMID:16990043|PMID:17576681|PMID:17998446|PMID:19650410|PMID:19763152|PMID:20232353|PMID:20307669|PMID:22406018|PMID:25640679|PMID:25741868|PMID:27512882|PMID:28492532|PMID:30809705|PMID:3100754|PMID:34349725|PMID:6450420|PMID:9536098 8983288 Gns glucosamine (N-acetyl)-6-sulfatase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1314172 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:16199547|PMID:17576681|PMID:20232353|PMID:25741868|PMID:28492532|PMID:9536098 8983288 Gns glucosamine (N-acetyl)-6-sulfatase gene DOID:12849 autistic disorder ISO RGD:1314172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868|PMID:28492532 8983288 Gns glucosamine (N-acetyl)-6-sulfatase gene DOID:630 genetic disease ISO RGD:1314172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8983305 LOC102022372 chromosome unknown open reading frame, human C6orf120 gene DOID:630 genetic disease ISO RGD:1348768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983318 Rfx4 regulatory factor X4 gene DOID:630 genetic disease ISO RGD:1354416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983348 Antxrl ANTXR like gene DOID:5419 schizophrenia ISO RGD:1602061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8983370 Was WASP actin nucleation promoting factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8983370 Was WASP actin nucleation promoting factor gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8983370 Was WASP actin nucleation promoting factor gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1349471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8983370 Was WASP actin nucleation promoting factor gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8983370 Was WASP actin nucleation promoting factor gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1349471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8983370 Was WASP actin nucleation promoting factor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349471 D RGD:7240710 20180130 OMIM 8983370 Was WASP actin nucleation promoting factor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1349471 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10202051|PMID:10447259|PMID:10449748|PMID:10575547|PMID:10653325|PMID:10691337|PMID:10698340|PMID:10737997|PMID:10909851|PMID:11167787|PMID:11242115|PMID:11298372|PMID:11442475|PMID:11793485|PMID:11877312|PMID:12199801|PMID:12727931|PMID:12969986|PMID:14504083|PMID:14612970|PMID:15284122|PMID:15469902|PMID:15497008|PMID:16091449|PMID:16199547|PMID:16511828|PMID:16638962|PMID:16804117|PMID:17213309|PMID:17250667|PMID:17400488|PMID:17576681|PMID:17703096|PMID:18162713|PMID:19006568|PMID:19308710|PMID:19328743|PMID:19817875|PMID:19863535|PMID:20173115|PMID:20232122|PMID:20513746|PMID:20546529|PMID:20959042|PMID:21185603|PMID:21710275|PMID:21771083|PMID:22038941|PMID:22229731|PMID:22426750|PMID:22523910|PMID:22679904|PMID:23023736|PMID:23033889|PMID:23160469|PMID:23527602|PMID:23689198|PMID:23807894|PMID:24210885|PMID:24402308|PMID:24728327|PMID:25091438|PMID:25332606|PMID:25476427|PMID:25741868|PMID:25792466|PMID:25862925|PMID:25931402|PMID:26261240|PMID:26277674|PMID:26368308|PMID:26502776|PMID:27264129|PMID:27566838|PMID:28492532|PMID:28600779|PMID:28623282|PMID:28641574|PMID:28748566|PMID:28901403|PMID:28931895|PMID:28956125|PMID:29078804|PMID:29896746|PMID:29991546|PMID:30549999|PMID:30697212|PMID:30894704|PMID:30981783|PMID:31064749|PMID:31352750|PMID:31354712|PMID:31965297|PMID:32097281|PMID:3284030|PMID:33225392|PMID:34098853|PMID:34355501|PMID:35729272|PMID:35874699|PMID:7579329|PMID:7579347|PMID:7753869|PMID:8069912|PMID:8528198|PMID:8528199|PMID:8530058|PMID:8595430|PMID:8666397|PMID:8682510|PMID:8743175|PMID:8757562|PMID:8757563|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9476131|PMID:9536098|PMID:9683546 8983370 Was WASP actin nucleation promoting factor gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1558289 D RGD:9068941 20200917 RGD PMID:23141740|REF_RGD_ID:38676258 8983370 Was WASP actin nucleation promoting factor gene DOID:12849 autistic disorder ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8983370 Was WASP actin nucleation promoting factor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349471 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 8983370 Was WASP actin nucleation promoting factor gene DOID:1588 thrombocytopenia ISO RGD:1349471 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:11167787|PMID:12969986|PMID:15284122|PMID:19817875|PMID:20546529|PMID:21185603|PMID:23160469|PMID:25741868|PMID:27885891|PMID:28492532|PMID:28641574|PMID:31064749|PMID:7753869|PMID:8666397|PMID:8757563|PMID:9326235 8983370 Was WASP actin nucleation promoting factor gene DOID:2213 hemorrhagic disease ISO RGD:1349471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:28492532 8983370 Was WASP actin nucleation promoting factor gene DOID:2986 IgA glomerulonephritis ISO RGD:1558289 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 8983370 Was WASP actin nucleation promoting factor gene DOID:3298 vaccinia severity ISO RGD:1558289 D RGD:9068941 20200917 RGD PMID:15681416|REF_RGD_ID:38599240 8983370 Was WASP actin nucleation promoting factor gene DOID:630 genetic disease ISO RGD:1349471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8983370 Was WASP actin nucleation promoting factor gene DOID:9000557 Thrombocytopenia 1 ISO RGD:1349471 D RGD:7240710 20180130 OMIM 8983370 Was WASP actin nucleation promoting factor gene DOID:9000557 Thrombocytopenia 1 ISO RGD:1349471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1 | ClinVar Annotator: match by term: Thrombocytopenia 1 | ClinVar Annotator: match by term: Thrombocytopenia, X-linked PMID:10447259|PMID:10575547|PMID:11167787|PMID:11242115|PMID:11442475|PMID:11745360|PMID:11793485|PMID:12199801|PMID:12591280|PMID:12727931|PMID:12969986|PMID:14504083|PMID:14612666|PMID:15284122|PMID:16199547|PMID:16562789|PMID:16804117|PMID:17400488|PMID:17576681|PMID:17703096|PMID:19006568|PMID:19308710|PMID:19817875|PMID:19863535|PMID:20173115|PMID:20232122|PMID:20546529|PMID:21185603|PMID:22038941|PMID:23023736|PMID:23160469|PMID:24210885|PMID:24728327|PMID:25091438|PMID:25741868|PMID:26261240|PMID:27264129|PMID:28492532|PMID:28641574|PMID:28748566|PMID:28931895|PMID:31064749|PMID:31352750|PMID:31965297|PMID:3284030|PMID:33225392|PMID:7579329|PMID:7753869|PMID:7795648|PMID:8528198|PMID:8528199|PMID:8595430|PMID:8666397|PMID:8682510|PMID:8757563|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9536098 8983370 Was WASP actin nucleation promoting factor gene DOID:9005525 X-Linked Thrombocytopenia, Intermittent ISO RGD:1349471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia, X-linked, intermittent PMID:11877312 8983370 Was WASP actin nucleation promoting factor gene DOID:9006262 Cytomegalovirus Infections severity ISO RGD:1558289 D RGD:9068941 20200917 RGD PMID:30981413|REF_RGD_ID:38676256 8983370 Was WASP actin nucleation promoting factor gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1349471 D RGD:7240710 20180130 OMIM 8983370 Was WASP actin nucleation promoting factor gene DOID:9169 Wiskott-Aldrich syndrome ISO RGD:1349471 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aldrich syndrome | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated PMID:10202051|PMID:10447259|PMID:10449748|PMID:10653325|PMID:10691337|PMID:10737997|PMID:11242115|PMID:11298372|PMID:11442475|PMID:11745360|PMID:11793485|PMID:12073025|PMID:12199801|PMID:12351383|PMID:12437929|PMID:12727931|PMID:12969986|PMID:14504083|PMID:14566484|PMID:14612666|PMID:15284122|PMID:15497008|PMID:16091449|PMID:16199547|PMID:16511828|PMID:16638962|PMID:16804117|PMID:17065640|PMID:17213309|PMID:17250667|PMID:17390083|PMID:17400488|PMID:17576681|PMID:17703096|PMID:18162713|PMID:19006568|PMID:19308710|PMID:19817875|PMID:19863535|PMID:20173115|PMID:20232122|PMID:20513746|PMID:20546529|PMID:20959042|PMID:21185603|PMID:21710275|PMID:21771083|PMID:22038941|PMID:22426750|PMID:22523910|PMID:22679904|PMID:23023736|PMID:23033889|PMID:23527602|PMID:23689198|PMID:24210885|PMID:24728327|PMID:25091438|PMID:25332606|PMID:25741868|PMID:25792466|PMID:25931402|PMID:27885891|PMID:27993330|PMID:28492532|PMID:28748566|PMID:2906042|PMID:30981783|PMID:31352750|PMID:31965297|PMID:32812413|PMID:3284030|PMID:33225392|PMID:34355501|PMID:35729272|PMID:35874699|PMID:7579329|PMID:7579347|PMID:7735919|PMID:7753869|PMID:7795648|PMID:8069912|PMID:8528198|PMID:8528199|PMID:8595430|PMID:8673127|PMID:8682510|PMID:8743175|PMID:8931701|PMID:9126958|PMID:9326235|PMID:9536098|PMID:9657775 8983394 Pcyt2 phosphate cytidylyltransferase 2, ethanolamine gene DOID:0112343 hereditary spastic paraplegia 82 ISO RGD:736348 D RGD:7240710 20200226 OMIM 8983394 Pcyt2 phosphate cytidylyltransferase 2, ethanolamine gene DOID:0112343 hereditary spastic paraplegia 82 ISO RGD:736348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive PMID:25741868|PMID:28492532|PMID:31637422|PMID:32889549 8983394 Pcyt2 phosphate cytidylyltransferase 2, ethanolamine gene DOID:630 genetic disease ISO RGD:736348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31637422|PMID:32889549 8983413 Efna3 ephrin A3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 8983413 Efna3 ephrin A3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8983413 Efna3 ephrin A3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8983413 Efna3 ephrin A3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1352863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8983413 Efna3 ephrin A3 gene DOID:1540 parathyroid carcinoma ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8983413 Efna3 ephrin A3 gene DOID:5812 MHC class II deficiency ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8983413 Efna3 ephrin A3 gene DOID:630 genetic disease ISO RGD:1352863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983413 Efna3 ephrin A3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8983429 Madd MAP kinase activating death domain gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:732838 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type PMID:25741868|PMID:32761064 8983429 Madd MAP kinase activating death domain gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:732838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8983429 Madd MAP kinase activating death domain gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:732838 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 8983429 Madd MAP kinase activating death domain gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 8983429 Madd MAP kinase activating death domain gene DOID:1059 intellectual disability ISO RGD:732838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8983429 Madd MAP kinase activating death domain gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732838 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8983429 Madd MAP kinase activating death domain gene DOID:224 transient cerebral ischemia ISO RGD:619922 D RGD:9068941 20200609 RGD PMID:12625816|REF_RGD_ID:9588641 8983429 Madd MAP kinase activating death domain gene DOID:630 genetic disease ISO RGD:732838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28118382 8983429 Madd MAP kinase activating death domain gene DOID:9003974 DEEAH Syndrome ISO RGD:732838 D RGD:7240710 20201118 OMIM 8983429 Madd MAP kinase activating death domain gene DOID:9003974 DEEAH Syndrome ISO RGD:732838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deeah syndrome PMID:25741868|PMID:28492532|PMID:32761064 8983429 Madd MAP kinase activating death domain gene DOID:9004709 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA ISO RGD:732838 D RGD:7240710 20201216 OMIM 8983429 Madd MAP kinase activating death domain gene DOID:9004709 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA ISO RGD:732838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MADD-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia PMID:25741868|PMID:28940097|PMID:29302074|PMID:32761064 8983429 Madd MAP kinase activating death domain gene DOID:9352 type 2 diabetes mellitus ISO RGD:737590 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8983502 Inhbc inhibin subunit beta C gene DOID:630 genetic disease ISO RGD:733811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983502 Inhbc inhibin subunit beta C gene DOID:6846 familial melanoma ISO RGD:733811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8983502 Inhbc inhibin subunit beta C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733811 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8983508 Prex1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1315206 D RGD:9068941 20220825 MouseDO 8983508 Prex1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 gene DOID:10283 prostate cancer ISO RGD:1603014 D RGD:9068941 20200609 RGD protein:increased expression:prostate, lymph node PMID:19305425|REF_RGD_ID:2314605 8983508 Prex1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 gene DOID:630 genetic disease ISO RGD:1603014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983508 Prex1 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1603014 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:19305425|REF_RGD_ID:2314605 8983573 LOC102030373 chromosome unknown open reading frame, human C4orf27 gene DOID:630 genetic disease ISO RGD:1606274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983601 Hoxa7 homeobox A7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8983601 Hoxa7 homeobox A7 gene DOID:630 genetic disease ISO RGD:1343560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983621 Calhm3 calcium homeostasis modulator 3 gene DOID:630 genetic disease ISO RGD:1347189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983667 Naaa N-acylethanolamine acid amidase gene DOID:630 genetic disease ISO RGD:1316359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983667 Naaa N-acylethanolamine acid amidase gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8983683 Dcun1d3 defective in cullin neddylation 1 domain containing 3 gene DOID:630 genetic disease ISO RGD:1602987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983699 Arhgef28 Rho guanine nucleotide exchange factor 28 gene DOID:630 genetic disease ISO RGD:6892765 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8983699 Arhgef28 Rho guanine nucleotide exchange factor 28 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:6892765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8983740 Vtn vitronectin gene DOID:0060903 thrombosis ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:15069014|REF_RGD_ID:1580815 8983740 Vtn vitronectin gene DOID:11832 visual epilepsy ISO RGD:3967 D RGD:9068941 20200609 RGD PMID:8721676|REF_RGD_ID:10003102 8983740 Vtn vitronectin gene DOID:12132 granulomatosis with polyangiitis ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:12126637|REF_RGD_ID:1580817 8983740 Vtn vitronectin gene DOID:3049 Churg-Strauss syndrome ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:12126637|REF_RGD_ID:1580817 8983740 Vtn vitronectin gene DOID:3393 coronary artery disease ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:15678274|REF_RGD_ID:1580816 8983740 Vtn vitronectin gene DOID:5082 liver cirrhosis ISO RGD:736955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8983740 Vtn vitronectin gene DOID:576 proteinuria ISO RGD:3967 D RGD:9068941 20200609 RGD associated with Mesangial Proliferative Glomerulonephritis PMID:9621282|REF_RGD_ID:10003089 8983740 Vtn vitronectin gene DOID:630 genetic disease ISO RGD:736955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983740 Vtn vitronectin gene DOID:8778 Crohn's disease ISO RGD:736955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19751734 8983740 Vtn vitronectin gene DOID:8947 diabetic retinopathy ISO RGD:3967 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:8804356|REF_RGD_ID:10040982 8983740 Vtn vitronectin gene DOID:8947 diabetic retinopathy ISO RGD:736955 D RGD:9068941 20200609 RGD PMID:7536680|REF_RGD_ID:1580818 8983740 Vtn vitronectin gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:3967 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8983740 Vtn vitronectin gene DOID:9002165 Diabetic Nephropathies ISO RGD:3967 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:glomerulus PMID:11728964|REF_RGD_ID:10003096 8983740 Vtn vitronectin gene DOID:9008604 Radiation Pneumonitis ISO RGD:736955 D RGD:9068941 20200609 RGD Protein: increased expression: plasma PMID:20510197|REF_RGD_ID:5129484 8983754 Paox polyamine oxidase gene DOID:0060041 autism spectrum disorder ISO RGD:1320571 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8983754 Paox polyamine oxidase gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1320571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8983754 Paox polyamine oxidase gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1320571 D RGD:9068941 20220407 RGD DNA:SNPs: :rs7316, rs1046175(human) PMID:31016788|REF_RGD_ID:151667418 8983754 Paox polyamine oxidase gene DOID:630 genetic disease ISO RGD:1320571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983754 Paox polyamine oxidase gene DOID:9007096 Stroke ISO RGD:1320571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16269634 8983765 Smad1 SMAD family member 1 gene DOID:0060001 withdrawal disorder ISO RGD:1353457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 8983765 Smad1 SMAD family member 1 gene DOID:0080600 COVID-19 ISO RGD:1353457 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8983765 Smad1 SMAD family member 1 gene DOID:1184 nephrotic syndrome ISO RGD:3030 D RGD:9068941 20200609 RGD PMID:17803470|REF_RGD_ID:1643224 8983765 Smad1 SMAD family member 1 gene DOID:12336 male infertility ISO RGD:3030 D RGD:9068941 20200609 RGD protein:decreased expression:spermatogonia, spermatocytes, spermatids PMID:15704675|REF_RGD_ID:1643234 8983765 Smad1 SMAD family member 1 gene DOID:2921 glomerulonephritis ISO RGD:3030 D RGD:9068941 20200609 RGD protein:increased phosphorylation:glomerulus PMID:15591053|REF_RGD_ID:1643235 8983765 Smad1 SMAD family member 1 gene DOID:2999 granulosa cell tumor ISO RGD:734156 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 8983765 Smad1 SMAD family member 1 gene DOID:630 genetic disease ISO RGD:1353457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983765 Smad1 SMAD family member 1 gene DOID:6432 pulmonary hypertension ISO RGD:3030 D RGD:9068941 20200609 RGD protein:decreased expression, increased phosphorylation:lung PMID:18367643|REF_RGD_ID:12903274 8983765 Smad1 SMAD family member 1 gene DOID:6432 pulmonary hypertension ISO RGD:3030 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:lung, vascular associated smooth muscle cell PMID:17347486|REF_RGD_ID:1643222 8983765 Smad1 SMAD family member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3030 D RGD:9068941 20200609 RGD PMID:16447265|REF_RGD_ID:1643229 8983765 Smad1 SMAD family member 1 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3030 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 8983765 Smad1 SMAD family member 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:734156 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 8983765 Smad1 SMAD family member 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1353457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 8983765 Smad1 SMAD family member 1 gene DOID:9005643 Experimental Diabetes Mellitus severity ISO RGD:3030 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, urine PMID:16482100|REF_RGD_ID:1643228 8983765 Smad1 SMAD family member 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1353457 D RGD:9068941 20200609 RGD PMID:15911698|REF_RGD_ID:1643233 8983765 Smad1 SMAD family member 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1353457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:21898662|PMID:26387786 8983783 Enox1 ecto-NOX disulfide-thiol exchanger 1 gene DOID:10283 prostate cancer ISO RGD:1605985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8983783 Enox1 ecto-NOX disulfide-thiol exchanger 1 gene DOID:630 genetic disease ISO RGD:1605985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983844 Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 gene DOID:2717 Bloom syndrome ISO RGD:1320703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8983844 Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 gene DOID:630 genetic disease ISO RGD:1320703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983844 Dnaja4 DnaJ heat shock protein family (Hsp40) member A4 gene DOID:9256 colorectal cancer ISO RGD:1320703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8983859 Thap6 THAP domain containing 6 gene DOID:630 genetic disease ISO RGD:1320801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0050758 metabolic acidosis ISO RGD:736480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic acidosis PMID:25741868 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0080600 COVID-19 ISO RGD:736480 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0111277 mitochondrial trifunctional protein deficiency ISO RGD:736480 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:12754706|PMID:14630990|PMID:14694500|PMID:15902556|PMID:16199547|PMID:16423905|PMID:16523289|PMID:17143551|PMID:17576681|PMID:19699128|PMID:19880769|PMID:21549624|PMID:22000755|PMID:22494545|PMID:23757202|PMID:24033266|PMID:24314034|PMID:24379101|PMID:24664533|PMID:25741868|PMID:26109258|PMID:27014569|PMID:27491397|PMID:28492532|PMID:28515471|PMID:28871440|PMID:29956646|PMID:30682426|PMID:31130284|PMID:32257295|PMID:34543737|PMID:34578803|PMID:35050212|PMID:35383965|PMID:35403730|PMID:35433169|PMID:8651282|PMID:9259266|PMID:9536098 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:736480 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:736480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:24314034 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:10652 Alzheimer's disease ISO RGD:736480 D RGD:9068941 20200609 RGD protein:decreased_expression:vascular smooth muscle cells:little or no expression in VSMCs in arteries with amyloid deposits PMID:11430884|REF_RGD_ID:1600786 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:114 heart disease ISO RGD:736480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17116638 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:3146 lipid metabolism disorder ISO RGD:736480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17116638 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:630 genetic disease ISO RGD:736480 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:700 mitochondrial metabolism disease ISO RGD:736480 D RGD:9068941 20200609 RGD Mitochondrial trifunctional protein deficiency, OMIM:609015; DNA:point_mutations:CDS:compound heterozygote 182G>A amino acid R61H, and 740G>A amino acid R247H PMID:8651282|REF_RGD_ID:1600779 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9002828 Mitochondrial Trifunctional Protein Deficiency 2 ISO RGD:736480 D RGD:7240710 20230505 OMIM 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9002828 Mitochondrial Trifunctional Protein Deficiency 2 ISO RGD:736480 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy PMID:12754706|PMID:15902556|PMID:16423905|PMID:19699128|PMID:19880769|PMID:22382802|PMID:22494545|PMID:24664533|PMID:25741868|PMID:28492532|PMID:28515471|PMID:29956646|PMID:8163672|PMID:8651282|PMID:9259266 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:736480 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9008939 Breast Neoplasms ISO RGD:736480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8983868 Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta gene DOID:9452 steatotic liver disease ISO RGD:736480 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17116638 8983894 Cdkn2aip CDKN2A interacting protein gene DOID:10283 prostate cancer ISO RGD:1604354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8983894 Cdkn2aip CDKN2A interacting protein gene DOID:630 genetic disease ISO RGD:1604354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983913 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8983913 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1321248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8983913 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321248 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8983913 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:0080942 anauxetic dysplasia ISO RGD:1321248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8983913 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1321248 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8983913 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8983913 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:630 genetic disease ISO RGD:1321248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983913 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:684 hepatocellular carcinoma ISO RGD:1321248 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8983913 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321248 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8983913 Arhgef39 Rho guanine nucleotide exchange factor 39 gene DOID:9870 galactosemia ISO RGD:1321248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8983957 Tbc1d9 TBC1 domain family member 9 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1604383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28332277 8983957 Tbc1d9 TBC1 domain family member 9 gene DOID:630 genetic disease ISO RGD:1604383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983957 Tbc1d9 TBC1 domain family member 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8983988 Arfgap3 ADP ribosylation factor GTPase activating protein 3 gene DOID:1059 intellectual disability ISO RGD:1344539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8983988 Arfgap3 ADP ribosylation factor GTPase activating protein 3 gene DOID:630 genetic disease ISO RGD:1344539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8983988 Arfgap3 ADP ribosylation factor GTPase activating protein 3 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:1344539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 8984008 Hs1bp3 HCLS1 binding protein 3 gene DOID:630 genetic disease ISO RGD:1602467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984025 Pla2g4e phospholipase A2 group IVE gene DOID:2717 Bloom syndrome ISO RGD:1606471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8984025 Pla2g4e phospholipase A2 group IVE gene DOID:630 genetic disease ISO RGD:1606471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984025 Pla2g4e phospholipase A2 group IVE gene DOID:9256 colorectal cancer ISO RGD:1606471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8984057 Znf667 zinc finger protein 667 gene DOID:630 genetic disease ISO RGD:1603200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984057 Znf667 zinc finger protein 667 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:1552946 D RGD:9068941 20230601 RGD PMID:24920753|REF_RGD_ID:329845564 8984079 Grm2 glutamate metabotropic receptor 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:732930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18804094 8984079 Grm2 glutamate metabotropic receptor 2 gene DOID:5419 schizophrenia ISO RGD:2743 D RGD:9068941 20231207 RGD mRNA:decreased expression:prefrontal cortex, striatum PMID:28265857|REF_RGD_ID:401901203 8984079 Grm2 glutamate metabotropic receptor 2 gene DOID:5419 schizophrenia ISO RGD:732930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18923069 8984079 Grm2 glutamate metabotropic receptor 2 gene DOID:630 genetic disease ISO RGD:732930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984079 Grm2 glutamate metabotropic receptor 2 gene DOID:670 amphetamine abuse ISO RGD:732930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20211215 8984079 Grm2 glutamate metabotropic receptor 2 gene DOID:8646 substance-induced psychosis ISO RGD:732930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20211215 8984079 Grm2 glutamate metabotropic receptor 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:2743 D RGD:9068941 20200821 RGD knockout compared to wild type PMID:28700935|REF_RGD_ID:38501064 8984079 Grm2 glutamate metabotropic receptor 2 gene DOID:9976 heroin dependence ISO RGD:2743 D RGD:9068941 20200814 RGD PMID:30283001|REF_RGD_ID:38501063 8984108 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:731545 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:20232449|PMID:23559409|PMID:28492532 8984108 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:3649 pyruvate decarboxylase deficiency ISO RGD:12246530 D RGD:9068941 20210604 OMIA Pyruvate dehydrogenase deficiency PMID:15049576|PMID:17095275|PMID:516334|PMID:552740|PMID:7361423 8984108 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:630 genetic disease ISO RGD:731545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8984108 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29335542 8984108 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9005740 Pyruvate Dehydrogenase Phosphatase Deficiency ISO RGD:731545 D RGD:7240710 20180130 OMIM 8984108 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9005740 Pyruvate Dehydrogenase Phosphatase Deficiency ISO RGD:731545 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency PMID:15855260|PMID:19184109|PMID:25741868|PMID:28492532|PMID:31392110 8984108 Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 gene DOID:9970 obesity ISO RGD:731545 D RGD:9068941 20200609 RGD protein:decreased activity:circulating lymphocytes PMID:15897476|REF_RGD_ID:1642637 8984121 Kcnj12 potassium inwardly rectifying channel subfamily J member 12 gene DOID:11054 urinary bladder cancer ISO RGD:733298 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 8984121 Kcnj12 potassium inwardly rectifying channel subfamily J member 12 gene DOID:630 genetic disease ISO RGD:733298 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984121 Kcnj12 potassium inwardly rectifying channel subfamily J member 12 gene DOID:9000081 Lymphatic Metastasis ISO RGD:733298 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 8984121 Kcnj12 potassium inwardly rectifying channel subfamily J member 12 gene DOID:9000918 Disease Progression ISO RGD:733298 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 8984129 Cct2 chaperonin containing TCP1 subunit 2 gene DOID:11476 osteoporosis ISO RGD:1352326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8984129 Cct2 chaperonin containing TCP1 subunit 2 gene DOID:630 genetic disease ISO RGD:1352326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1605730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:11678 onchocerciasis ISO RGD:1605730 D RGD:9068941 20200609 RGD PMID:8854084|REF_RGD_ID:6480649 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:2043 hepatitis B disease_progression ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:SNP: :rs3077(human) PMID:27051043|REF_RGD_ID:14694816 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:2772 irritant dermatitis ISO RGD:1605730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:2841 asthma susceptibility ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:21814517|REF_RGD_ID:13506911 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:5082 liver cirrhosis severity ISO RGD:1605730 D RGD:9068941 20200609 RGD DAN:polymorphism: : PMID:10203020|REF_RGD_ID:14694972 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:684 hepatocellular carcinoma ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:hypomethylation: CpG islands: PMID:20165882|REF_RGD_ID:14694974 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:8778 Crohn's disease ISO RGD:1605730 D RGD:9068941 20200609 RGD PMID:12073072|REF_RGD_ID:6480648 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs3077, rs9277534(human) PMID:24897020|REF_RGD_ID:14694819 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19349983 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605730 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell: PMID:30267609|REF_RGD_ID:14694817 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9008163 Chronic Hepatitis B disease_progression ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:polymorphism::HLA-DPA1*04:01(human) PMID:28275747|REF_RGD_ID:14694818 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:SNP: :rs3077(human) PMID:30267609|REF_RGD_ID:14694817 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:SNP: :rs3077(human) PMID:29300980|REF_RGD_ID:14694973 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9415 allergic asthma susceptibility ISO RGD:1605730 D RGD:9068941 20200609 RGD DNA:polymorphism: PMID:28380482|REF_RGD_ID:13506910 8984149 LOC102025724 HLA class II histocompatibility antigen, DP alpha 1 chain gene DOID:9744 type 1 diabetes mellitus ISO RGD:1605730 D RGD:9068941 20200609 RGD PMID:7576003|REF_RGD_ID:6480651 8984162 Ms4a13 membrane spanning 4-domains A13 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8984162 Ms4a13 membrane spanning 4-domains A13 gene DOID:1059 intellectual disability ISO RGD:1606059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8984162 Ms4a13 membrane spanning 4-domains A13 gene DOID:630 genetic disease ISO RGD:1606059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:0050439 Usher syndrome ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:32333447 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:0050952 spastic ataxia ISO RGD:1350214 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:32333447|PMID:34445196 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W ISO RGD:1350214 D RGD:7240710 20180130 OMIM 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W ISO RGD:1350214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w PMID:22930593|PMID:25741868|PMID:26072516|PMID:26752306|PMID:27353947|PMID:28492532|PMID:29235198|PMID:29790872|PMID:32543048 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:0110828 Usher syndrome type 3 ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3 PMID:28492532 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:0110842 Usher syndrome type 3B ISO RGD:1350214 D RGD:7240710 20180130 OMIM 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:0110842 Usher syndrome type 3B ISO RGD:1350214 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:16199547|PMID:17576681|PMID:22279524|PMID:22279824|PMID:22930593|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26072516|PMID:26752306|PMID:27353947|PMID:28492532|PMID:28632987|PMID:29235198|PMID:29790872|PMID:31028937|PMID:31211171|PMID:32333447|PMID:32543048|PMID:34445196|PMID:34813128|PMID:9536098 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:417 autoimmune disease ISO RGD:1350214 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:23256773 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1350214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532|PMID:32333447 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1350214 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22279524|PMID:22279824|PMID:22930593|PMID:24033266|PMID:25741868|PMID:27353947|PMID:28492532|PMID:28632987|PMID:29235198|PMID:29790872|PMID:31028937|PMID:32543048|PMID:34813128 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:850 lung disease ISO RGD:1350214 D RGD:9068941 20230608 CTD CTD Direct Evidence: marker/mechanism PMID:23256773 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:8501 fundus dystrophy ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:870 neuropathy ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532|PMID:32333447 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350214 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8984184 Hars1 histidyl-tRNA synthetase 1 gene DOID:9008305 Talipes Cavus ISO RGD:1350214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pes cavus 8984209 Znf503 zinc finger protein 503 gene DOID:630 genetic disease ISO RGD:1323782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984209 Znf503 zinc finger protein 503 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:1323782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:22077973|PMID:23436491|PMID:25424711|PMID:27880066|PMID:28492532 8984225 Tmem47 transmembrane protein 47 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8984225 Tmem47 transmembrane protein 47 gene DOID:12849 autistic disorder ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8984225 Tmem47 transmembrane protein 47 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome 8984225 Tmem47 transmembrane protein 47 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8984225 Tmem47 transmembrane protein 47 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1343840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8984242 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8984242 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1347062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8984242 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8984242 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:0111934 immunodeficiency 38 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8984242 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:0111935 immunodeficiency 16 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8984242 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:630 genetic disease ISO RGD:1347062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984242 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8984242 Arhgef16 Rho guanine nucleotide exchange factor 16 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1347062 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8984267 Adam23 ADAM metallopeptidase domain 23 gene DOID:14557 primary pulmonary hypertension ISO RGD:1313949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8984267 Adam23 ADAM metallopeptidase domain 23 gene DOID:630 genetic disease ISO RGD:1313949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984267 Adam23 ADAM metallopeptidase domain 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8984297 Ctsd cathepsin D gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8984297 Ctsd cathepsin D gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8984297 Ctsd cathepsin D gene DOID:0080600 COVID-19 ISO RGD:1351014 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8984297 Ctsd cathepsin D gene DOID:0080773 delta beta-thalassemia ISO RGD:1351014 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8984297 Ctsd cathepsin D gene DOID:0110725 neuronal ceroid lipofuscinosis 10 ISO RGD:1351014 D RGD:7240710 20180130 OMIM 8984297 Ctsd cathepsin D gene DOID:0110725 neuronal ceroid lipofuscinosis 10 ISO RGD:1351014 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10 PMID:10218883|PMID:16670177|PMID:16685649|PMID:24767253|PMID:25298308|PMID:25741868|PMID:26467025|PMID:27249223|PMID:28492532|PMID:29140481|PMID:33681191 8984297 Ctsd cathepsin D gene DOID:0111969 immunodeficiency 39 ISO RGD:1351014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8984297 Ctsd cathepsin D gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8984297 Ctsd cathepsin D gene DOID:10652 Alzheimer's disease ISO RGD:1351014 D RGD:9068941 20200806 RGD PMID:11304834|REF_RGD_ID:1358532 8984297 Ctsd cathepsin D gene DOID:10652 Alzheimer's disease ISO RGD:1351014 D RGD:9068941 20200806 RGD protein:decreased expression:lymphocyte: PMID:15907478|REF_RGD_ID:1358533 8984297 Ctsd cathepsin D gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1351014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10218883|PMID:16199547|PMID:16670177|PMID:16685649|PMID:17576681|PMID:18762956|PMID:24767253|PMID:25298308|PMID:25741868|PMID:26059544|PMID:26467025|PMID:27249223|PMID:28492532|PMID:29140481|PMID:29373990|PMID:32421885|PMID:33681191|PMID:34331747|PMID:9536098 8984297 Ctsd cathepsin D gene DOID:1612 breast cancer ISO RGD:1351014 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:12140763|REF_RGD_ID:1547890 8984297 Ctsd cathepsin D gene DOID:1826 epilepsy ISO RGD:1351014 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8984297 Ctsd cathepsin D gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:12213722|REF_RGD_ID:5687152 8984297 Ctsd cathepsin D gene DOID:4450 renal cell carcinoma ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8984297 Ctsd cathepsin D gene DOID:557 kidney disease ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15213268 8984297 Ctsd cathepsin D gene DOID:630 genetic disease ISO RGD:1351014 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10218883|PMID:16670177|PMID:17576681|PMID:18762956|PMID:24767253|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33681191|PMID:9536098 8984297 Ctsd cathepsin D gene DOID:684 hepatocellular carcinoma ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8984297 Ctsd cathepsin D gene DOID:7148 rheumatoid arthritis ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 8984297 Ctsd cathepsin D gene DOID:8398 osteoarthritis ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 8984297 Ctsd cathepsin D gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351014 D RGD:9068941 20200609 RGD protein:increased expression:oral cavity, oropharynx, hypopharynx (human) PMID:10562684|REF_RGD_ID:1547892 8984297 Ctsd cathepsin D gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351014 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:28468961 8984297 Ctsd cathepsin D gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8984297 Ctsd cathepsin D gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1351014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8984297 Ctsd cathepsin D gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 8984297 Ctsd cathepsin D gene DOID:9004657 Weight Gain ISO RGD:1351014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8984309 Ints8 integrator complex subunit 8 gene DOID:10283 prostate cancer ISO RGD:1604344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8984309 Ints8 integrator complex subunit 8 gene DOID:2843 long QT syndrome ISO RGD:1604344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8984309 Ints8 integrator complex subunit 8 gene DOID:630 genetic disease ISO RGD:1604344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984309 Ints8 integrator complex subunit 8 gene DOID:9009083 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY ISO RGD:1604344 D RGD:7240710 20191016 OMIM 8984309 Ints8 integrator complex subunit 8 gene DOID:9009083 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY ISO RGD:1604344 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity PMID:25741868|PMID:28763441 8984360 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:736002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 8984360 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:13375 temporal arteritis ISO RGD:736002 D RGD:9068941 20200609 RGD PMID:11748647|REF_RGD_ID:1582497 8984360 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:2717 Bloom syndrome ISO RGD:736002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8984360 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:630 genetic disease ISO RGD:736002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984360 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 8984360 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21505870 8984360 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9008939 Breast Neoplasms ISO RGD:736002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127199 8984360 Mfge8 milk fat globule EGF and factor V/VIII domain containing gene DOID:9256 colorectal cancer ISO RGD:736002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8984404 Wnt7b Wnt family member 7B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8984404 Wnt7b Wnt family member 7B gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1322906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868 8984404 Wnt7b Wnt family member 7B gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1322906 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Matthew-Wood syndrome PMID:25741868|PMID:35790350 8984404 Wnt7b Wnt family member 7B gene DOID:1059 intellectual disability ISO RGD:1322906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8984404 Wnt7b Wnt family member 7B gene DOID:11054 urinary bladder cancer ISO RGD:1322906 D RGD:9068941 20200609 RGD mRNA:increased expression:superficial tumors vs normal bladder tissue (p=0.002) or invasive tumors (p=0.003) PMID:9461004|REF_RGD_ID:2299932 8984404 Wnt7b Wnt family member 7B gene DOID:1612 breast cancer ISO RGD:1322906 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:decreased vs normal breast epithelium PMID:15492823|REF_RGD_ID:2298699 8984404 Wnt7b Wnt family member 7B gene DOID:1618 breast fibroadenoma ISO RGD:1322906 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas PMID:8168088|REF_RGD_ID:2291878 8984404 Wnt7b Wnt family member 7B gene DOID:630 genetic disease ISO RGD:1322906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984404 Wnt7b Wnt family member 7B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1322907 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|REF_RGD_ID:2298863 8984404 Wnt7b Wnt family member 7B gene DOID:9005233 Experimental Mammary Neoplasms no_association ISO RGD:1322907 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:9419423|REF_RGD_ID:2298848 8984426 Pcgf3 polycomb group ring finger 3 gene DOID:1856 cherubism ISO RGD:1344033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8984426 Pcgf3 polycomb group ring finger 3 gene DOID:630 genetic disease ISO RGD:1344033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984426 Pcgf3 polycomb group ring finger 3 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1344033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:0060163 body dysmorphic disorder ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:736329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:0080777 lung sarcomatoid carcinoma ISO RGD:736329 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lung sarcomatoid carcinoma 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1059 intellectual disability ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:10907 microcephaly ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1749 squamous cell carcinoma ISO RGD:736329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1826 epilepsy ISO RGD:736329 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:736329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:3070 high grade glioma ISO RGD:736329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276365 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:736329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22215748|PMID:22585869|PMID:22617245|PMID:22919003 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:3910 lung adenocarcinoma ISO RGD:736329 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:23724914|PMID:27993330 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:736329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:9000495 Tremor ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8984449 Ros1 ROS proto-oncogene 1, receptor tyrosine kinase gene DOID:9007661 Dwarfism ISO RGD:736329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8984501 Ddx23 DEAD-box helicase 23 gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:1318600 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome PMID:25741868 8984501 Ddx23 DEAD-box helicase 23 gene DOID:1059 intellectual disability ISO RGD:1318600 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8984501 Ddx23 DEAD-box helicase 23 gene DOID:630 genetic disease ISO RGD:1318600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984501 Ddx23 DEAD-box helicase 23 gene DOID:9001276 Failure to Thrive ISO RGD:1318600 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:34050707 8984501 Ddx23 DEAD-box helicase 23 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1318600 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intrauterine growth retardation PMID:25741868|PMID:34050707 8984501 Ddx23 DEAD-box helicase 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318600 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: DDX23-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:34050707 8984525 Bcor BCL6 corepressor gene DOID:0060019 coronin-1A deficiency ISO RGD:1606540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION PMID:24728327|PMID:25073507|PMID:26694549|PMID:28492532 8984525 Bcor BCL6 corepressor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8984525 Bcor BCL6 corepressor gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1606540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 8984525 Bcor BCL6 corepressor gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1606540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:23901204|PMID:28492532 8984525 Bcor BCL6 corepressor gene DOID:0070338 cerebellar hypoplasia ISO RGD:1606540 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 8984525 Bcor BCL6 corepressor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 8984525 Bcor BCL6 corepressor gene DOID:0080613 anterior segment dysgenesis 8 ISO RGD:1606540 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 8 PMID:25741868 8984525 Bcor BCL6 corepressor gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1606540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:24728327|PMID:25073507|PMID:26694549|PMID:28492532 8984525 Bcor BCL6 corepressor gene DOID:0111799 syndromic microphthalmia 1 ISO RGD:1606540 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 1 PMID:24728327|PMID:25741868|PMID:28492532 8984525 Bcor BCL6 corepressor gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1606540 D RGD:7240710 20180130 OMIM 8984525 Bcor BCL6 corepressor gene DOID:0111809 syndromic microphthalmia 2 ISO RGD:1606540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:15004558|PMID:15770227|PMID:16199547|PMID:16829040|PMID:18414213|PMID:19367324|PMID:21740180|PMID:22983184|PMID:23557072|PMID:23815237|PMID:24728327|PMID:25073507|PMID:25326637|PMID:25620158|PMID:25741868|PMID:26694549|PMID:28166811|PMID:28317252|PMID:28492532|PMID:29974297|PMID:31048080 8984525 Bcor BCL6 corepressor gene DOID:10534 stomach cancer disease_progression ISO RGD:1606540 D RGD:9068941 20210903 RGD PMID:33145269|REF_RGD_ID:150340707 8984525 Bcor BCL6 corepressor gene DOID:1059 intellectual disability ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8984525 Bcor BCL6 corepressor gene DOID:12849 autistic disorder ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8984525 Bcor BCL6 corepressor gene DOID:13207 proliferative diabetic retinopathy susceptibility ISO RGD:1606540 D RGD:9068941 20221103 RGD associated with type 1 diabetes mellitus;DNA:hypomethylation:5'UTR PMID:26248552|REF_RGD_ID:155631276 8984525 Bcor BCL6 corepressor gene DOID:2154 nephroblastoma ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 8984525 Bcor BCL6 corepressor gene DOID:216 dental caries susceptibility ISO RGD:1606540 D RGD:9068941 20221028 RGD DNA:SNP: : rs17145638(human) PMID:23470693|REF_RGD_ID:155631274 8984525 Bcor BCL6 corepressor gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29376028 8984525 Bcor BCL6 corepressor gene DOID:3347 osteosarcoma ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22387997 8984525 Bcor BCL6 corepressor gene DOID:4233 clear cell sarcoma ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098867 8984525 Bcor BCL6 corepressor gene DOID:5517 stomach carcinoma disease_progression ISO RGD:1606540 D RGD:9068941 20210903 RGD PMID:27313181|REF_RGD_ID:150340706 8984525 Bcor BCL6 corepressor gene DOID:630 genetic disease ISO RGD:1606540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25073507|PMID:25741868|PMID:26694549|PMID:28492532 8984525 Bcor BCL6 corepressor gene DOID:83 cataract ISO RGD:1606540 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:24728327|PMID:25073507|PMID:26694549|PMID:28492532 8984525 Bcor BCL6 corepressor gene DOID:9002265 Kidney Neoplasms ISO RGD:1606540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098867 8984525 Bcor BCL6 corepressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8984525 Bcor BCL6 corepressor gene DOID:9119 acute myeloid leukemia ISO RGD:1606540 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia 8984525 Bcor BCL6 corepressor gene DOID:9256 colorectal cancer treatment ISO RGD:1606540 D RGD:9068941 20210903 RGD PMID:27880939|REF_RGD_ID:150340704 8984525 Bcor BCL6 corepressor gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1606540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 8984561 Grm6 glutamate metabotropic receptor 6 gene DOID:0050534 congenital stationary night blindness ISO RGD:70075 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:15781871|PMID:16249515|PMID:16622103|PMID:17405131|PMID:19666700|PMID:22008250|PMID:24715752|PMID:26628857|PMID:28041643|PMID:28492532|PMID:30718709|PMID:32531858 8984561 Grm6 glutamate metabotropic receptor 6 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:70075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8984561 Grm6 glutamate metabotropic receptor 6 gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:70075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 8984561 Grm6 glutamate metabotropic receptor 6 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:70075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8984561 Grm6 glutamate metabotropic receptor 6 gene DOID:0110865 congenital stationary night blindness 1B ISO RGD:70075 D RGD:7240710 20180130 OMIM 8984561 Grm6 glutamate metabotropic receptor 6 gene DOID:0110865 congenital stationary night blindness 1B ISO RGD:70075 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1B PMID:11874764|PMID:15781871|PMID:16249515|PMID:16622103|PMID:17405131|PMID:19578023|PMID:19666700|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25307992|PMID:25741868|PMID:26628857|PMID:26667666|PMID:28041643|PMID:28492532|PMID:30718709|PMID:32531858 8984561 Grm6 glutamate metabotropic receptor 6 gene DOID:14748 Sotos syndrome ISO RGD:70075 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8984561 Grm6 glutamate metabotropic receptor 6 gene DOID:14791 Leber congenital amaurosis ISO RGD:70075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:11874764|PMID:15781871|PMID:16622103|PMID:22008250|PMID:25741868|PMID:28492532|PMID:30718709 8984561 Grm6 glutamate metabotropic receptor 6 gene DOID:630 genetic disease ISO RGD:70075 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32483926 8984561 Grm6 glutamate metabotropic receptor 6 gene DOID:8501 fundus dystrophy ISO RGD:70075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11874764|PMID:15781871|PMID:16622103|PMID:19862333|PMID:22008250|PMID:22735794|PMID:25741868|PMID:28492532|PMID:30718709 8984583 Trim67 tripartite motif containing 67 gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1352641 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 8984583 Trim67 tripartite motif containing 67 gene DOID:1540 parathyroid carcinoma ISO RGD:1352641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8984583 Trim67 tripartite motif containing 67 gene DOID:630 genetic disease ISO RGD:1352641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984583 Trim67 tripartite motif containing 67 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1352641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8984583 Trim67 tripartite motif containing 67 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8984599 Galntl5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1351459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:18348270|PMID:25606385|PMID:28492532 8984599 Galntl5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:12336 male infertility ISO RGD:1351459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 8984599 Galntl5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:2843 long QT syndrome ISO RGD:1351459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8984599 Galntl5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:37 skin disease ISO RGD:1351459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28720099 8984599 Galntl5 polypeptide N-acetylgalactosaminyltransferase like 5 gene DOID:630 genetic disease ISO RGD:1351459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984627 Copg1 COPI coat complex subunit gamma 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1345265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8984627 Copg1 COPI coat complex subunit gamma 1 gene DOID:1790 malignant mesothelioma ISO RGD:1345265 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26463840 8984627 Copg1 COPI coat complex subunit gamma 1 gene DOID:630 genetic disease ISO RGD:1345265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984627 Copg1 COPI coat complex subunit gamma 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1345265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8984627 Copg1 COPI coat complex subunit gamma 1 gene DOID:9270 alkaptonuria ISO RGD:1345265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8984656 Ovol2 ovo like zinc finger 2 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1314567 D RGD:7240710 20190315 OMIM 8984656 Ovol2 ovo like zinc finger 2 gene DOID:0110855 posterior polymorphous corneal dystrophy 1 ISO RGD:1314567 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1 PMID:16303937|PMID:23049806|PMID:25741868|PMID:26749309|PMID:28492532|PMID:4900143 8984656 Ovol2 ovo like zinc finger 2 gene DOID:5374 pilomatrixoma ISO RGD:1314567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26873447 8984656 Ovol2 ovo like zinc finger 2 gene DOID:630 genetic disease ISO RGD:1314567 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8984680 Frmpd2 FERM and PDZ domain containing 2 gene DOID:11372 megacolon ISO RGD:1349524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8984680 Frmpd2 FERM and PDZ domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1349524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8984680 Frmpd2 FERM and PDZ domain containing 2 gene DOID:630 genetic disease ISO RGD:1349524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984722 Mrpl57 mitochondrial ribosomal protein L57 gene DOID:630 genetic disease ISO RGD:1321750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984727 Meiob meiosis specific with OB-fold gene DOID:0070177 spermatogenic failure 22 ISO RGD:1604193 D RGD:7240710 20190315 OMIM 8984727 Meiob meiosis specific with OB-fold gene DOID:0070177 spermatogenic failure 22 ISO RGD:1604193 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 22 PMID:28206990|PMID:34392356|PMID:35991565|PMID:37715646 8984727 Meiob meiosis specific with OB-fold gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8984727 Meiob meiosis specific with OB-fold gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8984727 Meiob meiosis specific with OB-fold gene DOID:14227 azoospermia ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8984727 Meiob meiosis specific with OB-fold gene DOID:1826 epilepsy ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8984727 Meiob meiosis specific with OB-fold gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8984727 Meiob meiosis specific with OB-fold gene DOID:630 genetic disease ISO RGD:1604193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984727 Meiob meiosis specific with OB-fold gene DOID:9007561 Premature Ovarian Failure 23 ISO RGD:1604193 D RGD:7240710 20240131 OMIM 8984727 Meiob meiosis specific with OB-fold gene DOID:9007561 Premature Ovarian Failure 23 ISO RGD:1604193 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 23 PMID:31000419 8984765 Pbx2 PBX homeobox 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8984765 Pbx2 PBX homeobox 2 gene DOID:630 genetic disease ISO RGD:1350680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984781 Dync1li1 dynein cytoplasmic 1 light intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1606006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984798 LOC102016346 cytochrome c oxidase protein 20 homolog gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:1319259 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30656193|PMID:32827528|PMID:32999401|PMID:9536098 8984798 LOC102016346 cytochrome c oxidase protein 20 homolog gene DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 ISO RGD:1319259 D RGD:7240710 20201111 OMIM 8984798 LOC102016346 cytochrome c oxidase protein 20 homolog gene DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 ISO RGD:1319259 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 PMID:17576681|PMID:23125284|PMID:24202787|PMID:25741868|PMID:28492532|PMID:30656193|PMID:31079202|PMID:32827528|PMID:32999401|PMID:33751098|PMID:36136859|PMID:9536098 8984798 LOC102016346 cytochrome c oxidase protein 20 homolog gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1319259 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8984798 LOC102016346 cytochrome c oxidase protein 20 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8984798 LOC102016346 cytochrome c oxidase protein 20 homolog gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1319259 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:17576681|PMID:25741868|PMID:28492532|PMID:30656193|PMID:32827528|PMID:32999401|PMID:9536098 8984798 LOC102016346 cytochrome c oxidase protein 20 homolog gene DOID:630 genetic disease ISO RGD:1319259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8984798 LOC102016346 cytochrome c oxidase protein 20 homolog gene DOID:700 mitochondrial metabolism disease ISO RGD:1319259 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868 8984798 LOC102016346 cytochrome c oxidase protein 20 homolog gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 8984798 LOC102016346 cytochrome c oxidase protein 20 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0050866 oral squamous cell carcinoma severity ISO RGD:1342972 D RGD:9068941 20210820 RGD DNA:mutations PMID:16676365|REF_RGD_ID:126925209 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0060071 pre-malignant neoplasm ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0070113 Niemann-Pick disease type C1 treatment ISO RGD:1332211 D RGD:9068941 20200609 RGD PMID:18591368|REF_RGD_ID:10047095 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1342972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0080006 bone development disease ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:1342972 D RGD:9068941 20200609 RGD PMID:21481795|REF_RGD_ID:11038814 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1342972 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:10988075|PMID:11423618|PMID:11567109|PMID:11569495|PMID:11853795|PMID:11861307|PMID:11964322|PMID:12130516|PMID:12399961|PMID:12576318|PMID:12623848|PMID:12663457|PMID:12783380|PMID:14559829|PMID:14745431|PMID:15194504|PMID:15256422|PMID:15381060|PMID:15510211|PMID:17008892|PMID:17114651|PMID:17189410|PMID:18223278|PMID:18354488|PMID:18615627|PMID:18757400|PMID:18828913|PMID:19164531|PMID:19264234|PMID:19466505|PMID:19557636|PMID:19652056|PMID:19768693|PMID:19811824|PMID:20010464|PMID:20367437|PMID:20512393|PMID:20537386|PMID:20557306|PMID:20607847|PMID:20697894|PMID:20702476|PMID:20963643|PMID:21221851|PMID:21489624|PMID:21505103|PMID:21509757|PMID:21562040|PMID:21605905|PMID:21762985|PMID:21872826|PMID:21888027|PMID:21895409|PMID:22210874|PMID:22306673|PMID:22772060|PMID:22870928|PMID:22912393|PMID:23355941|PMID:23540562|PMID:23575252|PMID:23676790|PMID:24109527|PMID:24236021|PMID:24456693|PMID:25152116|PMID:25157968|PMID:25686603|PMID:25741868|PMID:28492532|PMID:31775759|PMID:36063163 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:10534 stomach cancer ISO RGD:1342972 D RGD:9068941 20210528 RGD human cells in mouse model; associated with mental depression; protein:increased expression, increased phosphorylation:stomach (human) PMID:31396300|REF_RGD_ID:126908003 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:10907 microcephaly ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:33223528 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:11476 osteoporosis ISO RGD:1332211 D RGD:9068941 20200609 RGD PMID:10700189|REF_RGD_ID:10047094 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14330 Parkinson's disease ISO RGD:1332211 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:24412932|REF_RGD_ID:8693592 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14330 Parkinson's disease ISO RGD:1342972 D RGD:9068941 20200609 RGD protein:increased phosphorylation:striatum: PMID:20823226|REF_RGD_ID:8693409 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14330 Parkinson's disease ISO RGD:1584969 D RGD:9068941 20200609 RGD PMID:24412932|REF_RGD_ID:8693592 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:14504 Niemann-Pick disease ISO RGD:1332211 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum: PMID:20883783|REF_RGD_ID:8693571 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:1596 depressive disorder ISO RGD:1332211 D RGD:9068941 20210507 RGD protein:increased expression, increased phosphorylation:hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:1682 congenital heart disease ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:25741868|PMID:28288113|PMID:28492532|PMID:32643838 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:299 adenocarcinoma ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342972 D RGD:9068941 20210820 RGD human cells in mouse model PMID:26758680|REF_RGD_ID:126925226 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:1342972 D RGD:9068941 20210521 RGD DNA:SNP:3'utr: (rs4740363) (human) PMID:21472143|REF_RGD_ID:126925218 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:5199 ureteral obstruction ISO RGD:1584969 D RGD:9068941 20200609 RGD protein:increased activity:kidney: PMID:15629889|REF_RGD_ID:8693572 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:11569495|PMID:11853795|PMID:12399961|PMID:12623848|PMID:14745431|PMID:19164531|PMID:19264234|PMID:19811824|PMID:21489624|PMID:23676790|PMID:24236021|PMID:25157968|PMID:31775759 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1342972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:28492532 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1332211 D RGD:9068941 20210820 RGD PMID:32171747|REF_RGD_ID:126907997 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:1342972 D RGD:7240710 20190821 OMIM 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia ISO RGD:1342972 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: ABL1-Related Disorder | ClinVar Annotator: match by term: Leukemia, Philadelphia chromosome-positive, resistant to imatinib PMID:10988075|PMID:11423618|PMID:11569495|PMID:11853795|PMID:11861307|PMID:11964322|PMID:12130516|PMID:12399961|PMID:12623848|PMID:12663457|PMID:14559829|PMID:14745431|PMID:15194504|PMID:15256422|PMID:15381060|PMID:18615627|PMID:19466505|PMID:19652056|PMID:20367437|PMID:20512393|PMID:20537386|PMID:20697894|PMID:20963643|PMID:21505103|PMID:21562040|PMID:21762985|PMID:21872826|PMID:21895409|PMID:22306673|PMID:22772060|PMID:22870928|PMID:23355941|PMID:23540562|PMID:23676790|PMID:24236021|PMID:24456693|PMID:25157968|PMID:25686603|PMID:25741868|PMID:28492532|PMID:33783941|PMID:36063163 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1342972 D RGD:9068941 20200609 RGD PMID:3021820|REF_RGD_ID:1598673 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1342972 D RGD:9068941 20200609 RGD PMID:21481795|REF_RGD_ID:11038814 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:1342972 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:23289634|REF_RGD_ID:11038807 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9001276 Failure to Thrive ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002170 Experimental Neoplasms ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878872 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002614 Acute Lymphoblastic Leukemia, with Lymphomatous Features ISO RGD:1342972 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features PMID:10988075|PMID:11423618|PMID:11853795|PMID:11861307|PMID:11964322|PMID:12130516|PMID:12399961|PMID:12623848|PMID:14559829|PMID:14745431|PMID:15194504|PMID:15256422|PMID:15381060|PMID:18615627|PMID:19466505|PMID:19652056|PMID:20367437|PMID:20512393|PMID:20537386|PMID:20697894|PMID:20963643|PMID:21505103|PMID:21562040|PMID:21762985|PMID:21872826|PMID:21895409|PMID:22306673|PMID:22772060|PMID:22870928|PMID:23355941|PMID:23540562|PMID:23676790|PMID:24236021|PMID:24456693|PMID:25157968|PMID:25686603|PMID:25741868|PMID:36063163 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002867 Myeloid Leukemia, Chronic-Phase ISO RGD:1342972 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11559572|REF_RGD_ID:11038811 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9002867 Myeloid Leukemia, Chronic-Phase disease_progression ISO RGD:1342972 D RGD:9068941 20200609 RGD PMID:19344397|REF_RGD_ID:11038809 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9004222 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME ISO RGD:1342972 D RGD:7240710 20200910 OMIM 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9004222 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ABL1-related condition | ClinVar Annotator: match by term: Congenital heart defects and skeletal malformations syndrome PMID:25741868|PMID:28288113|PMID:28492532|PMID:32643838|PMID:33223528|PMID:33783941 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28288113 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9007188 Liver Neoplasms ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9007702 Carcinogenesis ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23968727 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008023 Memory Disorders treatment ISO RGD:1332211 D RGD:9068941 20200609 RGD PMID:18559370|REF_RGD_ID:8693418 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008023 Memory Disorders treatment ISO RGD:1584969 D RGD:9068941 20200609 RGD PMID:18559370|REF_RGD_ID:8693418 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008582 Developmental Disease ISO RGD:1342972 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20234815 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:1342972 D RGD:9068941 20200609 RGD DNA:translocation: : PMID:12161353|REF_RGD_ID:10450603 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9256 colorectal cancer ameliorates ISO RGD:1342972 D RGD:9068941 20210507 RGD human gene in mouse model PMID:32850446|REF_RGD_ID:126908002 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1342972 D RGD:9068941 20210507 RGD mRNA, protein:increased expression:colorectum (human) PMID:32850446|REF_RGD_ID:126908002 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9273 citrullinemia ISO RGD:1342972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 8984806 Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1342972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11984797|PMID:21898527 8984806 Abl1 c-abl oncogene 1, non-receptor tyrosine kinase gene DOID:10652 Alzheimer's disease ISO RGD:1332211 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:19700222|REF_RGD_ID:8693570 8984824 Marchf8 membrane associated ring-CH-type finger 8 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1353860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 8984852 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:11832 visual epilepsy ISO RGD:1307313 D RGD:9068941 20200609 RGD PMID:17437412|REF_RGD_ID:6907384 8984852 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:13714 anodontia ISO RGD:1316435 D RGD:9068941 20200609 RGD DNA:SNP: :rs11001553 (human) PMID:22984994|REF_RGD_ID:12738234 8984852 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:289 endometriosis ISO RGD:1316435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8984852 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:630 genetic disease ISO RGD:1316435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984852 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1307313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20019166|REF_RGD_ID:6907383 8984852 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1307313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21567076|REF_RGD_ID:6907380 8984852 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1316436 D RGD:9068941 20200609 RGD PMID:21773994|REF_RGD_ID:6907379 8984852 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1307313 D RGD:9068941 20200609 RGD PMID:20131282|REF_RGD_ID:6907382 8984852 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9002589 Bone Fractures ISO RGD:1316435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 8984852 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9003536 Familial Thoracic Aortic Aneurysm 8 ISO RGD:1316435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 8 PMID:28492532 8984852 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9008763 Femoral Fractures ISO RGD:1307313 D RGD:9068941 20200609 RGD PMID:21773994|REF_RGD_ID:6907379 8984852 Dkk1 dickkopf WNT signaling pathway inhibitor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1316435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 8984861 Clec14a C-type lectin domain containing 14A gene DOID:630 genetic disease ISO RGD:1603556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984861 Clec14a C-type lectin domain containing 14A gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1603556 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8984867 Gpm6a glycoprotein M6A gene DOID:630 genetic disease ISO RGD:736321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984867 Gpm6a glycoprotein M6A gene DOID:684 hepatocellular carcinoma ISO RGD:736321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8984867 Gpm6a glycoprotein M6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8984891 Iqgap2 IQ motif containing GTPase activating protein 2 gene DOID:630 genetic disease ISO RGD:1350713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8984891 Iqgap2 IQ motif containing GTPase activating protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1350713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20977743 8984891 Iqgap2 IQ motif containing GTPase activating protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1621864 D RGD:9068941 20220825 MouseDO OMIM:114550 8984891 Iqgap2 IQ motif containing GTPase activating protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8984891 Iqgap2 IQ motif containing GTPase activating protein 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1350713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050453 lissencephaly ISO RGD:1601994 D RGD:9068941 20200609 RGD DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple PMID:17559086|REF_RGD_ID:11065022 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050557 congenital muscular dystrophy ISO RGD:1601994 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:17878207|PMID:18195152|PMID:18691338|PMID:19067344|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:27493216|PMID:27884173|PMID:28492532|PMID:28688748|PMID:30961548|PMID:34324503 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1553166 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0060041 autism spectrum disorder ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1601994 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18330676|PMID:19299310|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:22323514|PMID:22522420|PMID:23326386|PMID:23689641|PMID:23894383|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:29302074|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1601994 D RGD:7240710 20180130 OMIM 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O ISO RGD:1601994 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22419172|PMID:22522420|PMID:22554691|PMID:22819665|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31872526|PMID:32115343|PMID:32404165|PMID:33077954|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:36819107|PMID:9536098 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1601994 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:17878207|PMID:25741868|PMID:28492532 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A ISO RGD:1601994 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies PMID:11709191|PMID:12588800|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17559086|PMID:17878207|PMID:17881266|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:23326386|PMID:25741868|PMID:26013959|PMID:26908613|PMID:27391550|PMID:28492532 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1601994 D RGD:7240710 20190703 OMIM 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 ISO RGD:1601994 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:34324503|PMID:36819107|PMID:9536098 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601994 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112374 muscular dystrophy-dystroglycanopathy ISO RGD:1601994 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22819665|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24282183|PMID:24731844|PMID:25390965|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29096039|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1601994 D RGD:7240710 20180130 OMIM 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 ISO RGD:1601994 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29555514|PMID:30961548|PMID:34324503|PMID:9536098 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:1059 intellectual disability ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17878207|PMID:25741868|PMID:28492532 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:10908 hydrocephalus ISO RGD:1601994 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1601994 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:630 genetic disease ISO RGD:1601994 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466003|PMID:17576681|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:22554691|PMID:22819665|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:27493216|PMID:28424332|PMID:28492532|PMID:28688748|PMID:29096039|PMID:29555514|PMID:9536098 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1601994 D RGD:7240710 20190315 OMIM 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9001993 Retinitis Pigmentosa 76 ISO RGD:1601994 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 76 PMID:11709191|PMID:12588800|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:23326386|PMID:24033266|PMID:24123366|PMID:24282183|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28832562|PMID:36819107|PMID:9536098 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9005603 Muscle Hypotonia ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotonia 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9006534 Nervous System Malformations ISO RGD:1601994 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9007402 Gliosis ISO RGD:1553166 D RGD:9068941 20200609 RGD PMID:21970971|REF_RGD_ID:11532765 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9281 phenylketonuria ISO RGD:1601994 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 8984941 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) gene DOID:9884 muscular dystrophy ISO RGD:1601994 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation, snp:exons, intron:multiple (human) PMID:17030669|REF_RGD_ID:1599152 8984968 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1321623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 8984968 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0070396 progressive leukoencephalopathy with ovarian failure ISO RGD:1321623 D RGD:7240710 20180130 OMIM 8984968 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0070396 progressive leukoencephalopathy with ovarian failure ISO RGD:1321623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:28492532|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31885218|PMID:33972171|PMID:35084689|PMID:35305867 8984968 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1321623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain PMID:32581362 8984968 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1321623 D RGD:7240710 20180130 OMIM 8984968 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:0111479 combined oxidative phosphorylation deficiency 8 ISO RGD:1321623 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30054184|PMID:30285085|PMID:30819764|PMID:31099476|PMID:31106991|PMID:31885218|PMID:35305867|PMID:37377599 8984968 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1321623 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27734837|PMID:27749956|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29749055|PMID:29971983|PMID:30285085|PMID:31099476|PMID:31885218|PMID:32080176|PMID:32319008|PMID:32581362|PMID:35305867 8984968 Aars2 alanyl-tRNA synthetase 2, mitochondrial gene DOID:9000096 Lung Agenesis ISO RGD:1321623 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pulmonary hypoplasia PMID:21549344|PMID:22277967|PMID:24033266|PMID:24808023|PMID:25058219|PMID:25705216|PMID:25741868|PMID:27839525|PMID:28492532|PMID:28633377|PMID:29440775|PMID:29971983|PMID:30285085|PMID:30819764|PMID:31106991 8984999 Dsc2 desmocollin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1319763 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:17033975|PMID:17186466|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21859740|PMID:23147450|PMID:23299917|PMID:23396983|PMID:23757202|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25447171|PMID:25569433|PMID:25637381|PMID:25741868|PMID:26138720|PMID:26332594|PMID:26656175|PMID:26743238|PMID:27054166|PMID:27153395|PMID:28255936|PMID:28471438|PMID:28492532|PMID:28798025|PMID:29367541|PMID:29802319|PMID:30665703|PMID:31024045|PMID:31333075|PMID:31402444|PMID:31568572|PMID:34426522|PMID:35819174|PMID:7971964 8984999 Dsc2 desmocollin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy susceptibility ISO RGD:1319763 D RGD:9068941 20230420 RGD DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human) PMID:25497880|REF_RGD_ID:243065272 8984999 Dsc2 desmocollin 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:28492532 8984999 Dsc2 desmocollin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319763 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23757202|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:26138720|PMID:26220970|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28166811|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:29032884|PMID:29367541|PMID:29641836|PMID:29802319|PMID:30790397|PMID:30847666|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31983221|PMID:32665702|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33684294|PMID:34135346|PMID:7971964|PMID:9536098 8984999 Dsc2 desmocollin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1319763 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:1245073|PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:205460|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23347029|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26264440|PMID:26272908|PMID:26310507|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:28818065|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30847666|PMID:31333075|PMID:31376648|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:34393635|PMID:34426522|PMID:35087879|PMID:35276540|PMID:35297182|PMID:35470680|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36178741|PMID:36293497|PMID:37273868|PMID:37418234|PMID:37477868|PMID:7971964|PMID:9536098 8984999 Dsc2 desmocollin 2 gene DOID:0060319 cardiac arrest ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:18678517|PMID:23861362|PMID:24033266|PMID:24704780|PMID:25637381|PMID:25741868|PMID:27153395|PMID:28492532 8984999 Dsc2 desmocollin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17033975|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23757202|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24967631|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:28255936|PMID:28492532|PMID:7971964 8984999 Dsc2 desmocollin 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1319763 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:19863551|PMID:23299917|PMID:25163546|PMID:25637381|PMID:25741868|PMID:28492532 8984999 Dsc2 desmocollin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 8984999 Dsc2 desmocollin 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1319763 D RGD:7240710 20180130 OMIM 8984999 Dsc2 desmocollin 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1319763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21220045|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22458570|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23863954|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25497880|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28069705|PMID:28153106|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:30122538|PMID:30790397|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31931689|PMID:31970460|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32746448|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33258288|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:35276540|PMID:7971964|PMID:9536098 8984999 Dsc2 desmocollin 2 gene DOID:0110082 arrhythmogenic right ventricular dysplasia 11 ISO RGD:1319763 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair PMID:1245073|PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:205460|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21220045|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23347029|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25497880|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26264440|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28069705|PMID:28153106|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28798025|PMID:28818065|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30665703|PMID:30790397|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31376648|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31931689|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33258288|PMID:33500567|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34012068|PMID:34135346|PMID:34393635|PMID:34426522|PMID:35087879|PMID:35276540|PMID:35297182|PMID:35470680|PMID:35703482|PMID:35819174|PMID:36178741|PMID:36293497|PMID:37418234|PMID:37477868|PMID:7971964|PMID:9536098 8984999 Dsc2 desmocollin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17033975|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23757202|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24967631|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:28255936|PMID:28492532|PMID:7971964 8984999 Dsc2 desmocollin 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1319763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:16199547|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28153106|PMID:28492532|PMID:31931689|PMID:33662488 8984999 Dsc2 desmocollin 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 8984999 Dsc2 desmocollin 2 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1319763 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868|PMID:28492532 8984999 Dsc2 desmocollin 2 gene DOID:1059 intellectual disability ISO RGD:1319763 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8984999 Dsc2 desmocollin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319763 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20031617|PMID:20152563|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21606396|PMID:21636032|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:27930701|PMID:28492532|PMID:29255176|PMID:30790397|PMID:31970460|PMID:36178741 8984999 Dsc2 desmocollin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 8984999 Dsc2 desmocollin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319763 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20400443|PMID:23514727|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28471438|PMID:28492532|PMID:29178656|PMID:33784018 8984999 Dsc2 desmocollin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319763 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:1245073|PMID:20400443|PMID:205460|PMID:23514727|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28471438|PMID:28492532|PMID:29178656|PMID:33784018|PMID:35297182 8984999 Dsc2 desmocollin 2 gene DOID:1909 melanoma ISO RGD:1319763 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:25741868|PMID:36672924 8984999 Dsc2 desmocollin 2 gene DOID:2843 long QT syndrome ISO RGD:1319763 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24832006|PMID:25741868|PMID:28492532|PMID:31397097|PMID:32268277 8984999 Dsc2 desmocollin 2 gene DOID:630 genetic disease ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8984999 Dsc2 desmocollin 2 gene DOID:9002348 Primary Pigmented Nodular Adrenocortical Disease, 2 ISO RGD:1319763 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 PMID:23911551|PMID:25741868|PMID:28492532|PMID:30122538|PMID:32686758|PMID:34012068 8984999 Dsc2 desmocollin 2 gene DOID:9003936 Cardiomegaly ISO RGD:1309426 D RGD:9068941 20230420 RGD protein:increased expression:heart (rat) PMID:26708424|REF_RGD_ID:264347602 8984999 Dsc2 desmocollin 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1319763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy 8984999 Dsc2 desmocollin 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1319763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8984999 Dsc2 desmocollin 2 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:1309426 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8985018 Jmjd1c jumonji domain containing 1C gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1320591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 8985018 Jmjd1c jumonji domain containing 1C gene DOID:0060041 autism spectrum disorder ISO RGD:1320591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8985018 Jmjd1c jumonji domain containing 1C gene DOID:0060169 benign familial infantile epilepsy ISO RGD:1320591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Benign familial infantile epilepsy PMID:25741868|PMID:28492532 8985018 Jmjd1c jumonji domain containing 1C gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1320591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8985018 Jmjd1c jumonji domain containing 1C gene DOID:12849 autistic disorder ISO RGD:1320591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17290275 8985018 Jmjd1c jumonji domain containing 1C gene DOID:308 early myoclonic encephalopathy ISO RGD:1320591 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:16199547|PMID:17576681|PMID:22495311|PMID:25741868|PMID:26181491|PMID:28166811|PMID:28492532|PMID:31785789|PMID:31954878|PMID:9536098 8985018 Jmjd1c jumonji domain containing 1C gene DOID:630 genetic disease ISO RGD:1320591 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8985018 Jmjd1c jumonji domain containing 1C gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8985018 Jmjd1c jumonji domain containing 1C gene DOID:687 hepatoblastoma ISO RGD:1320591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 8985018 Jmjd1c jumonji domain containing 1C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320591 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: JMJD1C-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: JMJD1C-related Neurodevelopmental disorder | ClinVar Annotator: match by term: JMJD1C-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26181491|PMID:28492532|PMID:31954878 8985018 Jmjd1c jumonji domain containing 1C gene DOID:9008826 YOU-HOOVER-FONG SYNDROME ISO RGD:1320591 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder PMID:25741868|PMID:31954878 8985070 Bex3 brain expressed X-linked 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8985070 Bex3 brain expressed X-linked 3 gene DOID:11832 visual epilepsy treatment ISO RGD:3148 D RGD:9068941 20200609 RGD PMID:12873743|REF_RGD_ID:9743975 8985070 Bex3 brain expressed X-linked 3 gene DOID:12849 autistic disorder ISO RGD:735398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8985070 Bex3 brain expressed X-linked 3 gene DOID:1686 glaucoma ISO RGD:3148 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:19682984|REF_RGD_ID:9743977 8985070 Bex3 brain expressed X-linked 3 gene DOID:224 transient cerebral ischemia ISO RGD:3148 D RGD:9068941 20200609 RGD PMID:11124986|REF_RGD_ID:9743974 8985070 Bex3 brain expressed X-linked 3 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:735398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 8985070 Bex3 brain expressed X-linked 3 gene DOID:9008086 Developmental Disabilities ISO RGD:735398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8985084 Lrch3 leucine rich repeats and calponin homology domain containing 3 gene DOID:630 genetic disease ISO RGD:1314681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985118 Plaa phospholipase A2 activating protein gene DOID:0090020 split hand-foot malformation ISO RGD:737277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:16199547|PMID:25741868|PMID:28492532|PMID:30755392 8985118 Plaa phospholipase A2 activating protein gene DOID:630 genetic disease ISO RGD:737277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:25741868|PMID:28492532|PMID:30755392 8985118 Plaa phospholipase A2 activating protein gene DOID:9005372 Inflammation ISO RGD:737277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11094054 8985118 Plaa phospholipase A2 activating protein gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:737277 D RGD:7240710 20190315 OMIM 8985118 Plaa phospholipase A2 activating protein gene DOID:9006140 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies ISO RGD:737277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies PMID:25741868|PMID:28007986|PMID:28413018|PMID:28492532|PMID:31322726 8985176 Ccny cyclin Y gene DOID:630 genetic disease ISO RGD:1347341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985176 Ccny cyclin Y gene DOID:8577 ulcerative colitis ISO RGD:1347341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 8985176 Ccny cyclin Y gene DOID:8778 Crohn's disease ISO RGD:1347341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0050770 polycystic liver disease ISO RGD:1318266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29068549|PMID:29801666|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31395617|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32939031|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33774617|PMID:33845788|PMID:33940108|PMID:35715958 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0050876 Caroli disease ISO RGD:1318266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Caroli disease PMID:1189128|PMID:11898128|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:21228398|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492530|PMID:28492532|PMID:29068549|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:35715958 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1318266 D RGD:7240710 20180523 OMIM 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080212 polycystic kidney disease 4 ISO RGD:1318266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PKHD1-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:18769842|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:21493627|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:23041322|PMID:23389334|PMID:23582048|PMID:24009235|PMID:24033266|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741895|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:26862157|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28166811|PMID:28170084|PMID:28252636|PMID:28364132|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29068549|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29947050|PMID:29956005|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31130284|PMID:31328266|PMID:31395617|PMID:31395954|PMID:31589614|PMID:31624253|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32901917|PMID:32939031|PMID:33059616|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33774617|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34032358|PMID:34405919|PMID:34487536|PMID:34536170|PMID:35314707|PMID:35627109|PMID:35715958|PMID:35778421|PMID:35812281|PMID:36065636|PMID:36307859|PMID:36549658|PMID:9536098 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080322 polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080322 polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31395954|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0080322 polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29068549|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31395954|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0081394 Caroli syndrome ISO RGD:1318267 D RGD:9068941 20240118 MouseDO 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1318266 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: PKD3 | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:17576681|PMID:18503009|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:22882926|PMID:23041322|PMID:23582048|PMID:24033266|PMID:24162162|PMID:24984783|PMID:25034658|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28170084|PMID:28252636|PMID:28375157|PMID:28492532|PMID:28578020|PMID:29095814|PMID:29801666|PMID:29956005|PMID:30275481|PMID:30343465|PMID:30507656|PMID:30586318|PMID:30650191|PMID:30773290|PMID:30787879|PMID:31130284|PMID:31395954|PMID:31589614|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33845788|PMID:33940108|PMID:34008892|PMID:9536098 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110860 polycystic kidney disease 3 ISO RGD:1318266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PKD3 PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:29068549|PMID:29801666|PMID:29956005|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31395617|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32939031|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33774617|PMID:33845788|PMID:33940108 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21274727|PMID:21493627|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23265383|PMID:23389334|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25741895|PMID:25741913|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28170084|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29956005|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30566001|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31130284|PMID:31395954|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34426522|PMID:9536098 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:16897190|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21274727|PMID:21493627|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23265383|PMID:23389334|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25741895|PMID:25741913|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28166811|PMID:28170084|PMID:28252636|PMID:28364132|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29068549|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29947050|PMID:29956005|PMID:30017326|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30566001|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31130284|PMID:31328266|PMID:31395617|PMID:31395954|PMID:31589614|PMID:31624253|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32304219|PMID:32359821|PMID:32384486|PMID:3239877|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33774617|PMID:33845788|PMID:33940108|PMID:33964006|PMID:34008892|PMID:34032358|PMID:34405919|PMID:34426522|PMID:34487536|PMID:34536170|PMID:35314707|PMID:35627109|PMID:35715958|PMID:35778421|PMID:35812281|PMID:36065636|PMID:36307859|PMID:9536098 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease severity ISO RGD:1318266 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:12874454|REF_RGD_ID:11062506 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease susceptibility ISO RGD:1308476 D RGD:9068941 20200609 RGD DNA:splice site mutation:intron:IVS35-2A>T PMID:11919560|REF_RGD_ID:70439 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:0110861 autosomal recessive polycystic kidney disease susceptibility ISO RGD:1318266 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutations: :multiple PMID:11919560|REF_RGD_ID:70439 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:10283 prostate cancer ISO RGD:1318266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:12215 oligohydramnios ISO RGD:1318266 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramnios PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:19914852|PMID:20413436|PMID:21274727|PMID:25124979|PMID:25741868|PMID:26695994|PMID:27225849|PMID:28375157|PMID:28492532|PMID:30773290|PMID:32799815|PMID:33532864|PMID:35005812 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:219 colon cancer ISO RGD:1318266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon cancer PMID:12846734|PMID:14741187|PMID:15805161|PMID:21493627|PMID:25646624|PMID:25701400|PMID:25741868|PMID:28492532|PMID:33532864|PMID:33716212 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:2975 cystic kidney disease ISO RGD:1318266 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Renal cyst PMID:25741868|PMID:27225849|PMID:28492532 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:5082 liver cirrhosis ISO RGD:1318267 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:17519956|REF_RGD_ID:14700917 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:557 kidney disease ISO RGD:1318266 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:19914852|PMID:19940839|PMID:20413436|PMID:21274727|PMID:25124979|PMID:25741868|PMID:26695994|PMID:27225849|PMID:28375157|PMID:28492532|PMID:30773290|PMID:32799815|PMID:33532864 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:630 genetic disease ISO RGD:1318266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11919560|PMID:15698423|PMID:15805161|PMID:19914852|PMID:20413436|PMID:23041322|PMID:25741868|PMID:26695994|PMID:28492532|PMID:29956005|PMID:31395954 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:630 genetic disease ISO RGD:1318266 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11919560|PMID:15698423|PMID:15805161|PMID:19914852|PMID:20413436|PMID:23041322|PMID:23265383|PMID:25701400|PMID:25741868|PMID:26695994|PMID:28492532|PMID:29956005|PMID:31395954|PMID:32304219 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1318266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29068549|PMID:29801666|PMID:29956005|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31395617|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32939031|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33774617|PMID:33845788|PMID:33940108|PMID:35715958 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:899 choledochal cyst ISO RGD:1318266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:899 choledochal cyst ISO RGD:1318267 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:15830394|REF_RGD_ID:14700991 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1318266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease PMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16876319|PMID:19176689|PMID:19914852|PMID:19940839|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:24162162|PMID:24984783|PMID:25124979|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28862642|PMID:29068549|PMID:29801666|PMID:30275481|PMID:30507656|PMID:30650191|PMID:30773290|PMID:31130284|PMID:31395617|PMID:31589614|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32939031|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33774617|PMID:33845788|PMID:33940108|PMID:35715958 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9002851 Medullary Sponge Kidney ISO RGD:1318267 D RGD:9068941 20200609 RGD PMID:30600684|REF_RGD_ID:14700919 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9005318 Isolated Caroli Disease ISO RGD:1318266 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree PMID:1189128|PMID:11898128|PMID:12874454|PMID:15698423|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492532|PMID:29068549|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:35715958 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006554 Pancreatic Cyst ISO RGD:1318267 D RGD:9068941 20200609 RGD PMID:18202188|REF_RGD_ID:14700921 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006554 Pancreatic Cyst ISO RGD:1318267 D RGD:9068941 20200609 RGD DNA:deletion:exon: PMID:17519956|REF_RGD_ID:14700917 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006697 Congenital Hepatic Fibrosis ISO RGD:1318266 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.7994T>C, p.(Leu2665Pro),c.8518C>T, p.(Arg2840Cys)(human) PMID:30507656|REF_RGD_ID:14700992 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9006697 Congenital Hepatic Fibrosis ISO RGD:1318267 D RGD:9068941 20200609 RGD PMID:30600684|REF_RGD_ID:14700919 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9007479 Habitual Abortions ISO RGD:1318266 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9263 homocystinuria ISO RGD:1318266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CBS deficiency PMID:25741868 8985207 Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin gene DOID:9446 cholangitis ISO RGD:1318267 D RGD:9068941 20200609 RGD PMID:29158418|REF_RGD_ID:14700923 8985278 Nsa2 NSA2 ribosome biogenesis factor gene DOID:12236 primary biliary cholangitis ISO RGD:1607078 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 8985278 Nsa2 NSA2 ribosome biogenesis factor gene DOID:3323 Sandhoff disease ISO RGD:1607078 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 8985278 Nsa2 NSA2 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1607078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985278 Nsa2 NSA2 ribosome biogenesis factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8985295 Wdr7 WD repeat domain 7 gene DOID:630 genetic disease ISO RGD:736419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985341 Cspg5 chondroitin sulfate proteoglycan 5 gene DOID:630 genetic disease ISO RGD:733098 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985341 Cspg5 chondroitin sulfate proteoglycan 5 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:733098 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8985349 Sipa1l1 signal induced proliferation associated 1 like 1 gene DOID:630 genetic disease ISO RGD:733053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985349 Sipa1l1 signal induced proliferation associated 1 like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8985349 Sipa1l1 signal induced proliferation associated 1 like 1 gene DOID:9004657 Weight Gain ISO RGD:733053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8985349 Sipa1l1 signal induced proliferation associated 1 like 1 gene DOID:9775 diastolic heart failure ISO RGD:733053 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8985394 Lrg1 leucine rich alpha-2-glycoprotein 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1349039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 8985394 Lrg1 leucine rich alpha-2-glycoprotein 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1349039 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8985394 Lrg1 leucine rich alpha-2-glycoprotein 1 gene DOID:13938 amenorrhea ISO RGD:1349039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8985394 Lrg1 leucine rich alpha-2-glycoprotein 1 gene DOID:3021 acute kidney failure ISO RGD:1349039 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34677723 8985394 Lrg1 leucine rich alpha-2-glycoprotein 1 gene DOID:630 genetic disease ISO RGD:1349039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985394 Lrg1 leucine rich alpha-2-glycoprotein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1349039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 8985394 Lrg1 leucine rich alpha-2-glycoprotein 1 gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1349039 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:0050711 aceruloplasminemia ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20655381 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:0111028 hemochromatosis type 4 ISO RGD:733072 D RGD:7240710 20180130 OMIM 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:0111028 hemochromatosis type 4 ISO RGD:733072 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hemochromatosis due to defect in ferroportin | ClinVar Annotator: match by term: Hemochromatosis type 4 PMID:11431687|PMID:11518736|PMID:12730114|PMID:12857562|PMID:12865285|PMID:12873829|PMID:14636642|PMID:15030991|PMID:15338274|PMID:15692071|PMID:15727899|PMID:15831700|PMID:15956209|PMID:16135412|PMID:16351644|PMID:16440176|PMID:16457665|PMID:16813613|PMID:16885049|PMID:17276706|PMID:17490902|PMID:17576681|PMID:17951290|PMID:17997113|PMID:18160816|PMID:19150361|PMID:19383972|PMID:20460119|PMID:21094556|PMID:21199650|PMID:21231898|PMID:21396368|PMID:21411349|PMID:22584997|PMID:23065513|PMID:23943237|PMID:24714983|PMID:25396007|PMID:25741868|PMID:26059880|PMID:27896572|PMID:28110135|PMID:28492532|PMID:30002125|PMID:30130274|PMID:31640930|PMID:32360131|PMID:9536098 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:0111029 hemochromatosis type 1 ISO RGD:733072 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 PMID:28492532 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:733072 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:12849 autistic disorder ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15446388 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:20648054|PMID:23587214|PMID:28492532 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:2352 hemochromatosis ISO RGD:733072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:2355 anemia ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16434484 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:289 endometriosis ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:630 genetic disease ISO RGD:733072 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:733072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:20648054|PMID:23587214|PMID:28492532 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:9003603 Hemolysis ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:9005725 Iron Overload ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17052926 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:9007188 Liver Neoplasms ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 8985404 Slc40a1 solute carrier family 40 member 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:733072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 8985416 Akap8l A-kinase anchoring protein 8 like gene DOID:630 genetic disease ISO RGD:1347470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1351504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:0050563 nonsyndromic deafness ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:28492532|PMID:30311386 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1351504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:11462238|PMID:11572889|PMID:12028435|PMID:14514738|PMID:17396119|PMID:19344236|PMID:19965530|PMID:23144074|PMID:23720012|PMID:24033266|PMID:24046192|PMID:25741868|PMID:26467025|PMID:27627812|PMID:28492532|PMID:30577881|PMID:30773290|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8651296|PMID:8940267|PMID:9848783 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1351504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome PMID:25741868 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:32581362 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:0110032 autosomal dominant Alport syndrome ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant Alport syndrome PMID:10752524|PMID:12028435|PMID:14514738|PMID:16199547|PMID:19344236|PMID:19965530|PMID:23144074|PMID:23720012|PMID:24046192|PMID:24854265|PMID:25741868|PMID:26809805|PMID:27627812|PMID:28492532|PMID:30577881|PMID:30773290|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8651296|PMID:8940267|PMID:9195222|PMID:9848783 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1351504 D RGD:7240710 20180130 OMIM 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:0110034 X-linked Alport syndrome ISO RGD:1351504 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome PMID:10094548|PMID:10561141|PMID:10684360|PMID:10752524|PMID:10862091|PMID:11223851|PMID:11462238|PMID:11572889|PMID:12028435|PMID:12105244|PMID:12796257|PMID:1330889|PMID:1352287|PMID:13582260|PMID:1363780|PMID:1376965|PMID:14514738|PMID:14604828|PMID:14856448|PMID:14993485|PMID:15044104|PMID:1577459|PMID:15780079|PMID:15954103|PMID:15957001|PMID:1598909|PMID:16199547|PMID:1635357|PMID:1672282|PMID:16941480|PMID:17277342|PMID:17396119|PMID:17576681|PMID:17660027|PMID:1783380|PMID:18083113|PMID:18343956|PMID:19019929|PMID:19281745|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20130921|PMID:20301386|PMID:20378821|PMID:20881942|PMID:20884774|PMID:21332469|PMID:21505094|PMID:21688191|PMID:21848006|PMID:22921432|PMID:22995991|PMID:23144074|PMID:23371956|PMID:2349482|PMID:23572034|PMID:23720012|PMID:23967202|PMID:24033266|PMID:24033287|PMID:24046192|PMID:24077912|PMID:24088041|PMID:24130771|PMID:24304881|PMID:24470729|PMID:24472419|PMID:24522658|PMID:24759409|PMID:24854265|PMID:25183659|PMID:25525159|PMID:25572247|PMID:25575550|PMID:25739341|PMID:25741868|PMID:25741911|PMID:25788563|PMID:25876686|PMID:26467025|PMID:26613025|PMID:26633545|PMID:26809805|PMID:26934356|PMID:27281700|PMID:27353043|PMID:27627812|PMID:27725732|PMID:28492532|PMID:28542346|PMID:28780565|PMID:28827396|PMID:28844315|PMID:28864840|PMID:29095814|PMID:29098738|PMID:29127259|PMID:29142990|PMID:29144512|PMID:29198386|PMID:29204651|PMID:29270492|PMID:29526710|PMID:29801666|PMID:29854973|PMID:29959198|PMID:30128941|PMID:30295827|PMID:30311386|PMID:30348286|PMID:30477285|PMID:30577881|PMID:30586318|PMID:30647093|PMID:30655312|PMID:30661074|PMID:30691124|PMID:30773290|PMID:30919572|PMID:31027891|PMID:31096494|PMID:31138263|PMID:31144478|PMID:31576025|PMID:31850286|PMID:32359821|PMID:32405592|PMID:32604935|PMID:32659759|PMID:32939031|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33330536|PMID:33369211|PMID:33532864|PMID:33633790|PMID:33854215|PMID:34008892|PMID:34215756|PMID:34400539|PMID:34440452|PMID:35005319|PMID:35022790|PMID:35580552|PMID:35643372|PMID:35802133|PMID:36633841|PMID:6650503|PMID:7485125|PMID:7599631|PMID:7695699|PMID:7969679|PMID:8218237|PMID:8406498|PMID:8433568|PMID:8455372|PMID:8648925|PMID:8651292|PMID:8651296|PMID:8738805|PMID:8807602|PMID:8825605|PMID:8887300|PMID:8940267|PMID:9150741|PMID:9195222|PMID:9452056|PMID:9536098|PMID:9848783 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:0111365 benign familial hematuria ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria PMID:25741868 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:10763 hypertension ISO RGD:1351504 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertension PMID:11223851|PMID:12028435|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28844315|PMID:29142990|PMID:29526710|PMID:29854973|PMID:30348286|PMID:30586318|PMID:30661074|PMID:30691124|PMID:31850286|PMID:32359821|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33854215|PMID:34008892|PMID:35022790|PMID:35643372|PMID:9848783 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:10952 nephritis ISO RGD:1351504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephritis PMID:25741868 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:10983 Alport syndrome ISO RGD:1351504 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane PMID:10563487|PMID:10752524|PMID:11223851|PMID:12028435|PMID:14514738|PMID:15044104|PMID:15780079|PMID:15954103|PMID:17396119|PMID:18083113|PMID:19344236|PMID:19728970|PMID:19919694|PMID:19965530|PMID:20301386|PMID:20378821|PMID:21332469|PMID:21688191|PMID:23144074|PMID:2349482|PMID:23572034|PMID:23720012|PMID:24046192|PMID:24077912|PMID:24130771|PMID:24304881|PMID:24470729|PMID:24854265|PMID:25525159|PMID:25572247|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:27627812|PMID:28492532|PMID:28542346|PMID:28844315|PMID:28864840|PMID:29127259|PMID:29142990|PMID:29526710|PMID:29854973|PMID:30348286|PMID:30577881|PMID:30586318|PMID:30647093|PMID:30655312|PMID:30661074|PMID:30691124|PMID:30773290|PMID:30968591|PMID:31850286|PMID:31922066|PMID:32359821|PMID:32405592|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33532864|PMID:33854215|PMID:34008892|PMID:34440452|PMID:35022790|PMID:35643372|PMID:7599631|PMID:7695699|PMID:8218237|PMID:8455372|PMID:8648925|PMID:8651292|PMID:8651296|PMID:8940267|PMID:9195222|PMID:9848783 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:1184 nephrotic syndrome ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:15044104|PMID:19344236|PMID:20378821|PMID:23720012|PMID:24130771|PMID:25741868|PMID:27627812|PMID:28492532|PMID:28542346|PMID:29127259|PMID:32405592|PMID:7599631|PMID:7695699|PMID:8218237|PMID:9848783 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:12849 autistic disorder ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1351504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10561141|PMID:10752524|PMID:14514738|PMID:14993485|PMID:15780079|PMID:21505094|PMID:24033266|PMID:24854265|PMID:25741868|PMID:26809805|PMID:27281700|PMID:28492532|PMID:28844315|PMID:8648925|PMID:9195222 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:557 kidney disease ISO RGD:1351504 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:10094548|PMID:10561141|PMID:11462238|PMID:12105244|PMID:15780079|PMID:15957001|PMID:17576681|PMID:18343956|PMID:19965530|PMID:22921432|PMID:22995991|PMID:23967202|PMID:24033266|PMID:25575550|PMID:25739341|PMID:25741868|PMID:25788563|PMID:26467025|PMID:27627812|PMID:27725732|PMID:28492532|PMID:28827396|PMID:30311386|PMID:30477285|PMID:30577881|PMID:31138263|PMID:31576025|PMID:8406498|PMID:8455372|PMID:8940267|PMID:9536098 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:576 proteinuria ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:576 proteinuria onset ISO RGD:1565499 D RGD:9068941 20240118 RGD PMID:34675305|REF_RGD_ID:329845598 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:630 genetic disease ISO RGD:1351504 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094548|PMID:17576681|PMID:19344236|PMID:23720012|PMID:25741868|PMID:27627812|PMID:28492532|PMID:29959198|PMID:30311386|PMID:36543213|PMID:7695699|PMID:8218237|PMID:8940267|PMID:9536098|PMID:9724608 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:9000104 Glomerular Diseases ISO RGD:1351504 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glomerulopathy PMID:11223851|PMID:12028435|PMID:17396119|PMID:19728970|PMID:19965530|PMID:20378821|PMID:21332469|PMID:21688191|PMID:24077912|PMID:24470729|PMID:25741868|PMID:26467025|PMID:26809805|PMID:26934356|PMID:28492532|PMID:28844315|PMID:29142990|PMID:29526710|PMID:29854973|PMID:30348286|PMID:30586318|PMID:30661074|PMID:30691124|PMID:31850286|PMID:32359821|PMID:33040356|PMID:33226606|PMID:33233744|PMID:33309955|PMID:33854215|PMID:34008892|PMID:35022790|PMID:35643372|PMID:9848783 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:9000363 Hematuria ISO RGD:1351504 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hematuria PMID:11223851|PMID:12028435|PMID:12796257|PMID:14514738|PMID:14604828|PMID:18083113|PMID:19919694|PMID:19965530|PMID:20130921|PMID:20301386|PMID:20378821|PMID:21505094|PMID:21848006|PMID:24046192|PMID:25741868|PMID:26467025|PMID:27627812|PMID:28492532|PMID:29144512|PMID:29526710|PMID:30311386|PMID:31027891|PMID:9150741 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:9000363 Hematuria onset ISO RGD:1565499 D RGD:9068941 20240118 RGD PMID:34675305|REF_RGD_ID:329845598 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:9001767 Unilateral Hearing Loss ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Unilateral deafness PMID:25741868 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:9004538 Hearing Loss ISO RGD:1351504 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:10094548|PMID:11462238|PMID:12105244|PMID:15957001|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:30477285|PMID:8406498|PMID:8455372|PMID:9536098 8985443 Col4a5 collagen type IV alpha 5 chain gene DOID:9005549 Epithelioid Leiomyoma ISO RGD:1351504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17069596 8985510 Wdr53 WD repeat domain 53 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1344468 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8985510 Wdr53 WD repeat domain 53 gene DOID:12849 autistic disorder ISO RGD:1344468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8985510 Wdr53 WD repeat domain 53 gene DOID:5419 schizophrenia ISO RGD:1344468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8985510 Wdr53 WD repeat domain 53 gene DOID:630 genetic disease ISO RGD:1344468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985538 Znf648 zinc finger protein 648 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8985538 Znf648 zinc finger protein 648 gene DOID:1540 parathyroid carcinoma ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8985538 Znf648 zinc finger protein 648 gene DOID:630 genetic disease ISO RGD:1606465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985538 Znf648 zinc finger protein 648 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8985538 Znf648 zinc finger protein 648 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8985544 Slc38a9 solute carrier family 38 member 9 gene DOID:630 genetic disease ISO RGD:1604225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985544 Slc38a9 solute carrier family 38 member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8985544 Slc38a9 solute carrier family 38 member 9 gene DOID:9007188 Liver Neoplasms ISO RGD:1604225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8985566 Zfp36l2 ZFP36 ring finger protein like 2 gene DOID:0080600 COVID-19 ISO RGD:1318953 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 8985566 Zfp36l2 ZFP36 ring finger protein like 2 gene DOID:3883 Lynch syndrome ISO RGD:1318953 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8985566 Zfp36l2 ZFP36 ring finger protein like 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1318953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671688 8985566 Zfp36l2 ZFP36 ring finger protein like 2 gene DOID:630 genetic disease ISO RGD:1318953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985566 Zfp36l2 ZFP36 ring finger protein like 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8985566 Zfp36l2 ZFP36 ring finger protein like 2 gene DOID:9004592 Oocyte/Zygote/Embryo Maturation Arrest 13 ISO RGD:1318953 D RGD:7240710 20221214 OMIM 8985566 Zfp36l2 ZFP36 ring finger protein like 2 gene DOID:9004592 Oocyte/Zygote/Embryo Maturation Arrest 13 ISO RGD:1318953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 13 PMID:34611029 8985566 Zfp36l2 ZFP36 ring finger protein like 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318953 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 8985571 Kalrn kalirin RhoGEF kinase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1601887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 8985571 Kalrn kalirin RhoGEF kinase gene DOID:12720 cerebral atherosclerosis susceptibility ISO RGD:1601887 D RGD:9068941 20230720 RGD DNA:SNP:intron: (rs6438833) (human) PMID:30232674|REF_RGD_ID:329956416 8985571 Kalrn kalirin RhoGEF kinase gene DOID:3393 coronary artery disease onset ISO RGD:1601887 D RGD:9068941 20230727 RGD associated with nicotine dependence; DNA:SNPs:multiple PMID:19706030|REF_RGD_ID:329970276 8985571 Kalrn kalirin RhoGEF kinase gene DOID:3393 coronary artery disease severity ISO RGD:1601887 D RGD:9068941 20230720 RGD DNA:SNP:intron: (rs9289231) (human) PMID:25316661|REF_RGD_ID:11076452 8985571 Kalrn kalirin RhoGEF kinase gene DOID:3393 coronary artery disease susceptibility ISO RGD:1601887 D RGD:9068941 20230720 RGD DNA:SNP:intron: (rs9289231) T>G (human) PMID:30483314|REF_RGD_ID:329955537 8985571 Kalrn kalirin RhoGEF kinase gene DOID:3393 coronary artery disease susceptibility ISO RGD:1601887 D RGD:9068941 20230720 RGD associated with type 2 diabetes mellitus;DNA:SNP:intron: (rs9289231) T>G (human) PMID:27218147|REF_RGD_ID:329956419 8985571 Kalrn kalirin RhoGEF kinase gene DOID:3526 cerebral infarction sexual_dimorphism ISO RGD:1601887 D RGD:9068941 20230727 RGD DNA:SNPs, haplotypes:intron,cds: (rs7620580, rs1708303) (human) PMID:28706949|REF_RGD_ID:329956420 8985571 Kalrn kalirin RhoGEF kinase gene DOID:3526 cerebral infarction susceptibility ISO RGD:1601887 D RGD:9068941 20230713 RGD DNA:SNP:intron: (rs6438833) (human) PMID:25917671|REF_RGD_ID:11085239 8985571 Kalrn kalirin RhoGEF kinase gene DOID:3526 cerebral infarction susceptibility ISO RGD:1601887 D RGD:9068941 20230928 RGD DNA:SNPs::multiple (human) PMID:20107840|REF_RGD_ID:329955374 8985571 Kalrn kalirin RhoGEF kinase gene DOID:630 genetic disease ISO RGD:1601887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985571 Kalrn kalirin RhoGEF kinase gene DOID:9000528 Coronary Disease ISO RGD:1601887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 5 PMID:17357071|PMID:25741868 8985571 Kalrn kalirin RhoGEF kinase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1601887 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 8985571 Kalrn kalirin RhoGEF kinase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1601887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8985571 Kalrn kalirin RhoGEF kinase gene DOID:9270 alkaptonuria ISO RGD:1601887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8985655 Pomp proteasome maturation protein gene DOID:0060914 proteosome-associated autoinflammatory syndrome 2 ISO RGD:1314101 D RGD:7240710 20190315 OMIM 8985655 Pomp proteasome maturation protein gene DOID:0080600 COVID-19 ISO RGD:1314101 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8985655 Pomp proteasome maturation protein gene DOID:13641 exfoliation syndrome ISO RGD:1314101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28553957 8985655 Pomp proteasome maturation protein gene DOID:630 genetic disease ISO RGD:1314101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8985655 Pomp proteasome maturation protein gene DOID:9007082 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma ISO RGD:1314101 D RGD:7240710 20180130 OMIM 8985655 Pomp proteasome maturation protein gene DOID:9007082 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma ISO RGD:1314101 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma PMID:20226437|PMID:22235297|PMID:25741868|PMID:27503413|PMID:28492532|PMID:29805043 8985665 Elavl1 ELAV like RNA binding protein 1 gene DOID:0080490 mucolipidosis type IV ISO RGD:1318543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8985665 Elavl1 ELAV like RNA binding protein 1 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1318543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8985665 Elavl1 ELAV like RNA binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1318543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8985665 Elavl1 ELAV like RNA binding protein 1 gene DOID:289 endometriosis ISO RGD:1318543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20889954 8985665 Elavl1 ELAV like RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1318543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985698 Pum3 pumilio RNA binding family member 3 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1318702 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8985698 Pum3 pumilio RNA binding family member 3 gene DOID:630 genetic disease ISO RGD:1318702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985733 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:731853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 8985733 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:2750 glycogen storage disease IV ISO RGD:731853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV 8985733 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:630 genetic disease ISO RGD:731853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33413275 8985733 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9003936 Cardiomegaly ISO RGD:731853 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121852 8985733 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8985733 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:731853 D RGD:7240710 20180130 OMIM 8985733 Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:731853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 without immunodeficiency PMID:16199547|PMID:17576681|PMID:18691923|PMID:23104095|PMID:2379848|PMID:23798481|PMID:23889995|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29260357|PMID:31127727|PMID:31407473|PMID:32187699|PMID:33413275|PMID:9536098 8985752 Ntan1 N-terminal asparagine amidase gene DOID:12849 autistic disorder ISO RGD:1350127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8985752 Ntan1 N-terminal asparagine amidase gene DOID:1826 epilepsy ISO RGD:1350127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8985752 Ntan1 N-terminal asparagine amidase gene DOID:5419 schizophrenia ISO RGD:1350127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8985752 Ntan1 N-terminal asparagine amidase gene DOID:630 genetic disease ISO RGD:1350127 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985813 LOC102023786 cytochrome c, somatic gene DOID:12858 Huntington's disease severity ISO RGD:10425 D RGD:9068941 20200609 RGD protein:altered localization:cytosol PMID:12095160|REF_RGD_ID:13432083 8985813 LOC102023786 cytochrome c, somatic gene DOID:12858 Huntington's disease severity ISO RGD:1604618 D RGD:9068941 20200609 RGD protein:altered localization:cytosol PMID:12095160|REF_RGD_ID:13432083 8985813 LOC102023786 cytochrome c, somatic gene DOID:14749 methylmalonic acidemia ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 8985813 LOC102023786 cytochrome c, somatic gene DOID:1588 thrombocytopenia ISO RGD:1604618 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:18345000|PMID:22102269|PMID:24326104|PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362|PMID:34355501 8985813 LOC102023786 cytochrome c, somatic gene DOID:1588 thrombocytopenia no_association ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:19172527|REF_RGD_ID:11352702 8985813 LOC102023786 cytochrome c, somatic gene DOID:1793 pancreatic cancer ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:11920648|REF_RGD_ID:2317614 8985813 LOC102023786 cytochrome c, somatic gene DOID:2213 hemorrhagic disease ISO RGD:1604618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8985813 LOC102023786 cytochrome c, somatic gene DOID:224 transient cerebral ischemia ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11333366 8985813 LOC102023786 cytochrome c, somatic gene DOID:2316 brain ischemia ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11756504 8985813 LOC102023786 cytochrome c, somatic gene DOID:326 ischemia ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172883 8985813 LOC102023786 cytochrome c, somatic gene DOID:3907 lung squamous cell carcinoma treatment ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:25578497|REF_RGD_ID:13792769 8985813 LOC102023786 cytochrome c, somatic gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1604618 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:25578497|REF_RGD_ID:13792769 8985813 LOC102023786 cytochrome c, somatic gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:25578497|REF_RGD_ID:13792769 8985813 LOC102023786 cytochrome c, somatic gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8985813 LOC102023786 cytochrome c, somatic gene DOID:4947 cholangiocarcinoma ISO RGD:1604618 D RGD:9068941 20200609 RGD PMID:19788692|REF_RGD_ID:2317615 8985813 LOC102023786 cytochrome c, somatic gene DOID:9000081 Lymphatic Metastasis ISO RGD:1604618 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma; protein:decreased expression:serum PMID:25578497|REF_RGD_ID:13792769 8985813 LOC102023786 cytochrome c, somatic gene DOID:9001341 Chloracne ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8985813 LOC102023786 cytochrome c, somatic gene DOID:9008648 Thrombocytopenia 4 ISO RGD:1604618 D RGD:7240710 20180130 OMIM 8985813 LOC102023786 cytochrome c, somatic gene DOID:9008648 Thrombocytopenia 4 ISO RGD:1604618 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 4 PMID:18345000|PMID:22102269|PMID:24326104|PMID:25741868|PMID:28492532|PMID:30051457|PMID:31064749|PMID:34355501|PMID:35126455 8985813 LOC102023786 cytochrome c, somatic gene DOID:9008726 Neoplasm Micrometastasis ISO RGD:1604618 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma; protein:decreased expression:serum PMID:25578497|REF_RGD_ID:13792769 8985813 LOC102023786 cytochrome c, somatic gene DOID:9452 steatotic liver disease ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10860543 8985813 LOC102023786 cytochrome c, somatic gene DOID:9970 obesity ISO RGD:1604618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16317704 8985824 Arl15 ADP ribosylation factor like GTPase 15 gene DOID:630 genetic disease ISO RGD:1323226 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985824 Arl15 ADP ribosylation factor like GTPase 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8985835 Nmt2 N-myristoyltransferase 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1349505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8985835 Nmt2 N-myristoyltransferase 2 gene DOID:5119 ovarian cyst ISO RGD:1349505 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8985835 Nmt2 N-myristoyltransferase 2 gene DOID:630 genetic disease ISO RGD:1349505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985858 Psmd5 proteasome 26S subunit, non-ATPase 5 gene DOID:630 genetic disease ISO RGD:1318199 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985883 Sh3glb2 SH3 domain containing GRB2 like, endophilin B2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314186 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8985883 Sh3glb2 SH3 domain containing GRB2 like, endophilin B2 gene DOID:630 genetic disease ISO RGD:1314186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985901 Atrip ATR interacting protein gene DOID:0050569 Seckel syndrome ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:25741868 8985901 Atrip ATR interacting protein gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1625848 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME PMID:16845398|PMID:17660818|PMID:17846997|PMID:20131292|PMID:21270825|PMID:23602593|PMID:23881107|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26467025|PMID:26938784|PMID:27943079|PMID:28492532|PMID:28750028|PMID:29159939|PMID:29453417|PMID:35307828|PMID:35532072 8985901 Atrip ATR interacting protein gene DOID:0060386 Chilblain lupus ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus PMID:16960810|PMID:17357087|PMID:17440703|PMID:18805785|PMID:20799324|PMID:20871604|PMID:21808053|PMID:22829693|PMID:23989343|PMID:25848017|PMID:28492532 8985901 Atrip ATR interacting protein gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1625848 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23602593|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26938784|PMID:27391121|PMID:27604306|PMID:27943079|PMID:28089741|PMID:28492532|PMID:29159939|PMID:29239743|PMID:29453417|PMID:30219631|PMID:3174024|PMID:31980526|PMID:33504652|PMID:34426522|PMID:35307828|PMID:35532072|PMID:9371916 8985901 Atrip ATR interacting protein gene DOID:13945 CADASIL ISO RGD:1625848 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: CASIL PMID:17660818|PMID:21270825|PMID:23881107|PMID:25741868|PMID:28492532|PMID:35307828 8985901 Atrip ATR interacting protein gene DOID:630 genetic disease ISO RGD:1625848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25500883|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:33606975|PMID:34426522 8985901 Atrip ATR interacting protein gene DOID:8501 fundus dystrophy ISO RGD:1625848 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 8985901 Atrip ATR interacting protein gene DOID:8725 vascular dementia ISO RGD:1625848 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:17660818|PMID:21270825|PMID:23881107|PMID:25741868|PMID:28492532|PMID:35307828 8985901 Atrip ATR interacting protein gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1625848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:29941221 8985901 Atrip ATR interacting protein gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1625848 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:16960810|PMID:17293595|PMID:17357087|PMID:17440703|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:19344873|PMID:19875384|PMID:20131292|PMID:20799324|PMID:20871604|PMID:21270825|PMID:21808053|PMID:21937424|PMID:22367235|PMID:22829693|PMID:23602593|PMID:23881107|PMID:23918923|PMID:23979357|PMID:23989343|PMID:24033266|PMID:24088041|PMID:24183309|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25500883|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25848017|PMID:25906927|PMID:26150267|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26691497|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29159939|PMID:29239743|PMID:29387804|PMID:29453417|PMID:29453956|PMID:30219631|PMID:31130681|PMID:31589614|PMID:31719132|PMID:3174024|PMID:31980526|PMID:32860008|PMID:33504652|PMID:33606975|PMID:33892200|PMID:34426522|PMID:34440436|PMID:34490615|PMID:34490982|PMID:35307828|PMID:35532072|PMID:3580372|PMID:35803721|PMID:35879334 8985901 Atrip ATR interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1625848 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8985901 Atrip ATR interacting protein gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1625848 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Chilblain lupus 1 PMID:16845398|PMID:17660818|PMID:20131292|PMID:21270825|PMID:23602593|PMID:23881107|PMID:24183309|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26938784|PMID:27943079|PMID:28492532|PMID:29453417|PMID:35307828 8985901 Atrip ATR interacting protein gene DOID:9074 systemic lupus erythematosus ISO RGD:1625848 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:24033266|PMID:24224166|PMID:25138095|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:34426522 8985956 Ccdc184 coiled-coil domain containing 184 gene DOID:630 genetic disease ISO RGD:1605794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985981 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:0111330 combined saposin deficiency ISO RGD:1350086 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency PMID:28492532 8985981 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1350086 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28749478|PMID:31680123|PMID:8677029 8985981 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:630 genetic disease ISO RGD:1350086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8985981 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:9007555 Spinal Muscular Atrophy with Congenital Bone Fractures 2 ISO RGD:1350086 D RGD:7240710 20190315 OMIM 8985981 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:9007555 Spinal Muscular Atrophy with Congenital Bone Fractures 2 ISO RGD:1350086 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2 PMID:16199547|PMID:21791690|PMID:25741868|PMID:26924529|PMID:28218388|PMID:28492532|PMID:28749478|PMID:30327447|PMID:31680123|PMID:31880396|PMID:33931933|PMID:34302381|PMID:8677029 8985981 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:9206 Barrett's esophagus ISO RGD:1350086 D RGD:7240710 20180130 OMIM 8985981 Ascc1 activating signal cointegrator 1 complex subunit 1 gene DOID:9206 Barrett's esophagus ISO RGD:1350086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Barrett esophagus | ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma PMID:21791690|PMID:25741868|PMID:28492532 8985997 Adrb2 adrenoceptor beta 2 gene DOID:0014667 disease of metabolism susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD dyslipidemias;DNA:polymorphism: :p.Q27E PMID:16082424|REF_RGD_ID:1601124 8985997 Adrb2 adrenoceptor beta 2 gene DOID:0050700 cardiomyopathy ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25193472 8985997 Adrb2 adrenoceptor beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733595 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8985997 Adrb2 adrenoceptor beta 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733595 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8985997 Adrb2 adrenoceptor beta 2 gene DOID:1067 open-angle glaucoma severity ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymprphism:cds:p.Q27E(human) PMID:16785856|REF_RGD_ID:8548468 8985997 Adrb2 adrenoceptor beta 2 gene DOID:1070 primary open angle glaucoma onset ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymprphism:cds:p.R16G(human) PMID:16785856|REF_RGD_ID:8548468 8985997 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:2471888|REF_RGD_ID:7175287 8985997 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :46A>G, 79C>G (human) PMID:20739939|REF_RGD_ID:4144883 8985997 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :pG16R, p.Q27E, p.T164I (human) PMID:16041242|REF_RGD_ID:1578728 8985997 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension ISO RGD:733595 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:SNP:cds:p.R16G (human) PMID:20484896|REF_RGD_ID:7175066 8985997 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension no_association ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:17221209|REF_RGD_ID:1601119 8985997 Adrb2 adrenoceptor beta 2 gene DOID:10763 hypertension susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:16685203|REF_RGD_ID:1601123 8985997 Adrb2 adrenoceptor beta 2 gene DOID:11396 pulmonary edema ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:18987456|REF_RGD_ID:5129128 8985997 Adrb2 adrenoceptor beta 2 gene DOID:11396 pulmonary edema ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNPs: :46A>G, 79C>G and 523C>A (human) PMID:20546540|REF_RGD_ID:4144884 8985997 Adrb2 adrenoceptor beta 2 gene DOID:11446 sciatic neuropathy treatment ISO RGD:10109 D RGD:9068941 20200609 RGD PMID:19912227|REF_RGD_ID:8548489 8985997 Adrb2 adrenoceptor beta 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:ovary PMID:15795180|REF_RGD_ID:5508374 8985997 Adrb2 adrenoceptor beta 2 gene DOID:1168 familial hyperlipidemia ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027735 8985997 Adrb2 adrenoceptor beta 2 gene DOID:12361 Graves' disease susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:79C>G,47A>G,-367T>C(human) PMID:17143563|REF_RGD_ID:8548467 8985997 Adrb2 adrenoceptor beta 2 gene DOID:12849 autistic disorder ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199132 8985997 Adrb2 adrenoceptor beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:18287209|REF_RGD_ID:5129132 8985997 Adrb2 adrenoceptor beta 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11986409 8985997 Adrb2 adrenoceptor beta 2 gene DOID:13949 interstitial cystitis susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R16G (human) PMID:12442007|REF_RGD_ID:7175285 8985997 Adrb2 adrenoceptor beta 2 gene DOID:14115 toxic shock syndrome disease_progression ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1042717(human) PMID:19850944|REF_RGD_ID:8548487 8985997 Adrb2 adrenoceptor beta 2 gene DOID:14115 toxic shock syndrome treatment ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:16076286|REF_RGD_ID:8548529 8985997 Adrb2 adrenoceptor beta 2 gene DOID:1459 hypothyroidism ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brown adipose tissue, heart: PMID:1651697|REF_RGD_ID:8548533 8985997 Adrb2 adrenoceptor beta 2 gene DOID:1485 cystic fibrosis ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:20203292|REF_RGD_ID:5129107 8985997 Adrb2 adrenoceptor beta 2 gene DOID:1485 cystic fibrosis ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:17502834|REF_RGD_ID:4145099 8985997 Adrb2 adrenoceptor beta 2 gene DOID:1555 urticaria susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :46A>G(human) PMID:18159608|REF_RGD_ID:8548486 8985997 Adrb2 adrenoceptor beta 2 gene DOID:2723 dermatitis susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Q27E(human) PMID:16955193|REF_RGD_ID:8548494 8985997 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to PMID:15284533|PMID:16596417|PMID:8383511 8985997 Adrb2 adrenoceptor beta 2 gene DOID:2841 asthma susceptibility ISO RGD:733595 D RGD:9068941 20230506 RGD DNA:SNP: :-1023A>G (human) PMID:19638684|REF_RGD_ID:4145081 8985997 Adrb2 adrenoceptor beta 2 gene DOID:2942 bronchiolitis ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:17687719|REF_RGD_ID:4145098 8985997 Adrb2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure ISO RGD:2060 D RGD:9068941 20200609 RGD associated with Endotoxemia; PMID:19020966|REF_RGD_ID:7175283 8985997 Adrb2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure ISO RGD:2060 D RGD:9068941 20200609 RGD associated with endotoxemia; protein:increased expression:kidney PMID:14747378|REF_RGD_ID:7175276 8985997 Adrb2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure ISO RGD:733595 D RGD:9068941 20200609 RGD associated with endotoxemia; protein:increased expression:kidney PMID:14747378|REF_RGD_ID:7175276 8985997 Adrb2 adrenoceptor beta 2 gene DOID:3021 acute kidney failure treatment ISO RGD:733595 D RGD:9068941 20200609 RGD associated with Bacteremia; PMID:19887504|REF_RGD_ID:7175281 8985997 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:11527135|PMID:20211002|REF_RGD_ID:4144899|REF_RGD_ID:5129114 8985997 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNP: :p.R16G (human) PMID:18789663|REF_RGD_ID:4145093 8985997 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1042717, rs1042718 (human) PMID:20525719|REF_RGD_ID:4140935 8985997 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:733595 D RGD:9068941 20200609 RGD protein:decreased expression:blood, sputum, mononuclear cell PMID:19080468|REF_RGD_ID:4145086 8985997 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q27E (human) PMID:19293197|REF_RGD_ID:4145082 8985997 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNP: :p.R16G (human) PMID:19747908|REF_RGD_ID:4145080 8985997 Adrb2 adrenoceptor beta 2 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:SNPs: :p.R16G, p.Q27E (human) PMID:18667995|REF_RGD_ID:4145095 8985997 Adrb2 adrenoceptor beta 2 gene DOID:437 myasthenia gravis ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.R16G,Q27E(human) PMID:10606977|REF_RGD_ID:8548470 8985997 Adrb2 adrenoceptor beta 2 gene DOID:4500 hypokalemia ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17292646|PMID:1848636|PMID:2826064 8985997 Adrb2 adrenoceptor beta 2 gene DOID:4947 cholangiocarcinoma ISO RGD:733595 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:16292515|REF_RGD_ID:2325640 8985997 Adrb2 adrenoceptor beta 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 8985997 Adrb2 adrenoceptor beta 2 gene DOID:552 pneumonia ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:19925785|REF_RGD_ID:4145041 8985997 Adrb2 adrenoceptor beta 2 gene DOID:557 kidney disease ISO RGD:2060 D RGD:9068941 20200609 RGD Associated with Escherichia coli infection; PMID:20349426|REF_RGD_ID:7175274 8985997 Adrb2 adrenoceptor beta 2 gene DOID:5844 myocardial infarction ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:12400771|REF_RGD_ID:8548519 8985997 Adrb2 adrenoceptor beta 2 gene DOID:5844 myocardial infarction susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.G16R, p.Q27E, p.T164I PMID:15520258|REF_RGD_ID:1601126 8985997 Adrb2 adrenoceptor beta 2 gene DOID:6000 congestive heart failure ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to PMID:15284533|PMID:16596417|PMID:8383511 8985997 Adrb2 adrenoceptor beta 2 gene DOID:630 genetic disease ISO RGD:733595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8985997 Adrb2 adrenoceptor beta 2 gene DOID:646 viral encephalitis ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 8985997 Adrb2 adrenoceptor beta 2 gene DOID:783 end stage renal disease ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:9730702|REF_RGD_ID:7175286 8985997 Adrb2 adrenoceptor beta 2 gene DOID:820 myocarditis ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:16908771|REF_RGD_ID:5129151 8985997 Adrb2 adrenoceptor beta 2 gene DOID:850 lung disease ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11436944 8985997 Adrb2 adrenoceptor beta 2 gene DOID:8577 ulcerative colitis ISO RGD:2060 D RGD:9068941 20200609 RGD protein:decreased expression:large intestine mucosa,spleen PMID:22772914|REF_RGD_ID:7175063 8985997 Adrb2 adrenoceptor beta 2 gene DOID:863 nervous system disease ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 8985997 Adrb2 adrenoceptor beta 2 gene DOID:8893 psoriasis ISO RGD:733595 D RGD:9068941 20200609 RGD mRNA:decreased expression:epidermis: PMID:8763426|REF_RGD_ID:8548488 8985997 Adrb2 adrenoceptor beta 2 gene DOID:8893 psoriasis susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R16G(human) PMID:15265530|REF_RGD_ID:8548492 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003101 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9000483 Angina Pectoris ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:11527135|REF_RGD_ID:5129114 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9000495 Tremor ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:190674|PMID:7902979|PMID:8102213|PMID:9151294 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q27E PMID:12682000|REF_RGD_ID:1601128 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9000784 Fibrosis ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25193472 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9001472 Nasal Polyps susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism:p.R16G(human) PMID:17621827|REF_RGD_ID:8548469 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19785950|REF_RGD_ID:5129118 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25193472 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18454446 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9003637 Vestibulocochlear Nerve Injuries ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA:increased expression:Vestibulocochlear nerve: PMID:22178544|REF_RGD_ID:8548530 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9004009 Reperfusion Injury ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:14630341|PMID:18336819|REF_RGD_ID:1598754|REF_RGD_ID:4145097 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9004086 AIDS Dementia Complex ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9004484 Sepsis ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:16603198|REF_RGD_ID:1598745 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9004484 Sepsis ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:10409266|REF_RGD_ID:8548498 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9004616 Left Ventricular Hypertrophy susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD associated with hypertension;DNA:polymorphism: :p.Q27E PMID:17178264|REF_RGD_ID:1601120 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9004760 Paroxysmal Dyspnea ISO RGD:733595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, nocturnal, susceptibility to PMID:11739457|PMID:14557466|PMID:15500895|PMID:15867853|PMID:16596417|PMID:28492532|PMID:7706471|PMID:9399946|PMID:9399966|PMID:9522789 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q27E PMID:17020471|REF_RGD_ID:1601121 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:14557466|REF_RGD_ID:1601127 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733595 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9554809 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9007692 Insulin Resistance ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:11510954|REF_RGD_ID:1598757 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9007692 Insulin Resistance ISO RGD:733595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19034036 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9007692 Insulin Resistance ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G PMID:15699455|REF_RGD_ID:1601125 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2060 D RGD:9068941 20200609 RGD PMID:16269402|REF_RGD_ID:1598746 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9008691 Liver Injury ISO RGD:2060 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:8855951|REF_RGD_ID:8548508 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:17221209|REF_RGD_ID:1601119 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9452 steatotic liver disease ISO RGD:733595 D RGD:9068941 20200609 RGD PMID:11718682|REF_RGD_ID:1559320 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9970 obesity ISO RGD:10106|RGD:10110 D RGD:9068941 20230506 RGD PMID:12161655|REF_RGD_ID:737773 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9970 obesity ISO RGD:733595 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:15687340 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9970 obesity no_association ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:17221209|REF_RGD_ID:1601119 8985997 Adrb2 adrenoceptor beta 2 gene DOID:9970 obesity susceptibility ISO RGD:733595 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R16G, p.Q27E PMID:17027833|REF_RGD_ID:1601122 8986002 Hnrnph3 heterogeneous nuclear ribonucleoprotein H3 gene DOID:630 genetic disease ISO RGD:1320680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:0050439 Usher syndrome ISO RGD:1604615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:0080536 hypermanganesemia with dystonia 1 ISO RGD:1604615 D RGD:7240710 20180130 OMIM 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:0080536 hypermanganesemia with dystonia 1 ISO RGD:1604615 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis PMID:11040156|PMID:18392750|PMID:22341971|PMID:22341972|PMID:22934317|PMID:25741868|PMID:27117033|PMID:28492532|PMID:30272946|PMID:31594250|PMID:34315874 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:0080855 Parkinsonism ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26220508 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:13580 cholestasis ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:14330 Parkinson's disease ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25149416 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:1459 hypothyroidism ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28860195 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1604615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:5082 liver cirrhosis ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22926781 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:543 dystonia ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22926781 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:630 genetic disease ISO RGD:1604615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:8432 polycythemia ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22926781 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:9000304 Manganese Poisoning ISO RGD:1604615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28860195|PMID:29429640 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 8986029 Slc30a10 solute carrier family 30 member 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8986055 Zer1 zyg-11 related cell cycle regulator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1321095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8986055 Zer1 zyg-11 related cell cycle regulator gene DOID:630 genetic disease ISO RGD:1321095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:0050741 alcohol dependence ISO RGD:621537 D RGD:9068941 20231228 RGD mRNA:decreased expression:hippocampus (rat) PMID:22253714|REF_RGD_ID:401900163 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:0050741 alcohol dependence ISO RGD:734108 D RGD:9068941 20231228 RGD mRNA:decreased expression:hippocampus (human) PMID:22253714|REF_RGD_ID:401900163 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:734108 D RGD:9068941 20231228 RGD DNA:SNP, haplotype:intron: C>G (rs29220) (human) PMID:26727527|REF_RGD_ID:11552767 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:734108 D RGD:9068941 20231228 RGD DNA:SNP:intron: (rs29253) (human) PMID:25191505|REF_RGD_ID:401940100 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:734108 D RGD:9068941 20240222 RGD DNA:SNP:Exon 11: T1974C (Human) PMID:10412185|REF_RGD_ID:401959601 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:0050741 alcohol dependence treatment ISO RGD:621537 D RGD:9068941 20240224 RGD PMID:36095322|REF_RGD_ID:401976442 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:0050741 alcohol dependence treatment ISO RGD:734108 D RGD:9068941 20231228 RGD DNA:SNP:intron: (rs29220) (human) PMID:29968397|REF_RGD_ID:401940102 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:0050741 alcohol dependence treatment ISO RGD:734109 D RGD:9068941 20240224 RGD PMID:36095322|REF_RGD_ID:401976442 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734108 D RGD:9068941 20231228 RGD DNA:SNPs,haplotypes:intron 6,exon 16,intron 17: (rs2267635,rs29230, rs29267) PMID:19763258|REF_RGD_ID:401940104 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:734108 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:25741868 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:1059 intellectual disability ISO RGD:734108 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder PMID:25741868|PMID:36103875 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:10763 hypertension ISO RGD:621537 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18338268|REF_RGD_ID:2315462 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:11372 megacolon ISO RGD:734108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:11832 visual epilepsy ISO RGD:621537 D RGD:9068941 20200609 RGD PMID:15153780|REF_RGD_ID:2315492 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:11832 visual epilepsy ISO RGD:621537 D RGD:9068941 20200609 RGD protein:altered location:forebrain PMID:19054408|REF_RGD_ID:2315437 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:12849 autistic disorder ISO RGD:734108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16770606|PMID:19002745 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:1574 alcohol use disorder ISO RGD:734108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:630 genetic disease ISO RGD:734108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:670 amphetamine abuse susceptibility ISO RGD:734108 D RGD:9068941 20231228 RGD DNA:SNPs, halotypes:intron (rs2076483,rs29221,rs715044) (human) PMID:30143926|REF_RGD_ID:401940101 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9002362 Hyperkinesis ISO RGD:734108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16990508 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:734108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621537 D RGD:9068941 20200609 RGD PMID:2849069|REF_RGD_ID:2315971 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:734108 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:36103875 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9975 cocaine dependence ISO RGD:734108 D RGD:9068941 20231228 RGD mRNA:decreased expression:hippocampus (human) PMID:22253714|REF_RGD_ID:401900163 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9975 cocaine dependence susceptibility ISO RGD:734108 D RGD:9068941 20231228 RGD DNA:SNP:intron: C>G (rs29220) (human) PMID:26727527|REF_RGD_ID:11552767 8986078 Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 gene DOID:9976 heroin dependence susceptibility ISO RGD:734108 D RGD:9068941 20231228 RGD DNA:SNP:intron: C>G (rs29220) (human) PMID:26727527|REF_RGD_ID:11552767 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0050860 colorectal adenoma ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0050861 colorectal adenocarcinoma ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735729 D RGD:9068941 20220825 RGD mRNA,protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0060001 withdrawal disorder ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15196791|PMID:15196794|PMID:18485423 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1059 intellectual disability ISO RGD:735729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:16696897|REF_RGD_ID:7242185 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12044476|PMID:24039778 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:11870 Pick's disease ISO RGD:735729 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex PMID:17548164|REF_RGD_ID:10047402 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:12098 trigeminal neuralgia ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:12554 hemolytic-uremic syndrome ISO RGD:10596 D RGD:9068941 20200609 RGD PMID:15632024|REF_RGD_ID:7242276 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:13619 extrahepatic cholestasis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16696126|PMID:18587450|PMID:18988310|PMID:7984056 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1826 epilepsy ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15973680 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:1984 rectal benign neoplasm ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:21975339|REF_RGD_ID:13210759 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:2030 anxiety disorder ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16488545 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:2560 morphine dependence treatment ISO RGD:2626 D RGD:9068941 20240201 RGD PMID:27053349|REF_RGD_ID:401959748 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:289 endometriosis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23284138 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:2921 glomerulonephritis ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:11880336|REF_RGD_ID:7242278 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:3525 middle cerebral artery infarction ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:3602 toxic encephalopathy ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19220411 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:735729 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:15514944|REF_RGD_ID:2293757 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:4001 ovarian carcinoma ISO RGD:735729 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:6000 congestive heart failure ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:15623567|REF_RGD_ID:2293777 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:735729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:670 amphetamine abuse ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19689456 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560|PMID:9029167 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:863 nervous system disease ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12890883 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:735729 D RGD:9068941 20200609 RGD protein: increased expression: kidney PMID:16049073|REF_RGD_ID:7242198 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9000363 Hematuria treatment ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:22634839|REF_RGD_ID:7242178 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9000998 Brain Injuries ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9630518 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002211 Hyperalgesia ISO RGD:2626 D RGD:9068941 20200609 RGD protein:increased expression:dorsal horn of spinal cord, neuron PMID:22160634|REF_RGD_ID:9999169 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002211 Hyperalgesia ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002362 Hyperkinesis ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355967 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9002928 Colonic Neoplasms ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:21344377|REF_RGD_ID:13210752 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:2626 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:15121240|REF_RGD_ID:2293779 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7922267 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9004649 Heat Stroke ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005100 Aberrant Crypt Foci ISO RGD:2626 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:colon, epithelial cell PMID:1576709|REF_RGD_ID:13210754 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005100 Aberrant Crypt Foci treatment ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:8449605|REF_RGD_ID:13432056 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16289808 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17276011|PMID:18311559|PMID:19533625 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9005873 Tongue Neoplasms ISO RGD:2626 D RGD:9068941 20200609 RGD protein:increased expression:tongue epithelium PMID:14674993|REF_RGD_ID:2293780 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9006205 Animal Disease Models ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10596 D RGD:9068941 20200609 RGD PMID:19095962|REF_RGD_ID:7242184 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8777434 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008217 Hemorrhage ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7844257 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008267 Fibrous Dysplasia of Bone ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7739708 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008331 Tendon Injuries treatment ISO RGD:2626 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:10596 D RGD:9068941 20200609 RGD PMID:11481418|REF_RGD_ID:13210758 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:735729 D RGD:9068941 20200609 RGD PMID:9781601|REF_RGD_ID:13210756 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:735729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8986103 Fos Fos proto-oncogene, AP-1 transcription factor subunit gene DOID:9970 obesity ISO RGD:735729 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27071101 8986111 LOC102010825 olfactory receptor 4D6 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8986111 LOC102010825 olfactory receptor 4D6 gene DOID:1059 intellectual disability ISO RGD:1345921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8986111 LOC102010825 olfactory receptor 4D6 gene DOID:630 genetic disease ISO RGD:1345921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986117 HNRNPAB heterogeneous nuclear ribonucleoprotein A/B gene DOID:684 hepatocellular carcinoma severity ISO RGD:730896 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:24638979|REF_RGD_ID:10059322 8986117 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:730896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8986117 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:730896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8986117 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:14748 Sotos syndrome ISO RGD:730896 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8986117 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:224 transient cerebral ischemia treatment ISO RGD:69255 D RGD:9068941 20200609 RGD PMID:22366221|REF_RGD_ID:9999181 8986117 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:630 genetic disease ISO RGD:730896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986117 Hnrnpab heterogeneous nuclear ribonucleoprotein A/B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15538050 8986128 Upp2 uridine phosphorylase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21151189 8986128 Upp2 uridine phosphorylase 2 gene DOID:630 genetic disease ISO RGD:1317821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986140 Dhx58 DExH-box helicase 58 gene DOID:630 genetic disease ISO RGD:1603964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986161 Otof otoferlin gene DOID:0050563 nonsyndromic deafness ISO RGD:1344284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10903124|PMID:12114484|PMID:12127154|PMID:12525542|PMID:14635104|PMID:16199547|PMID:16226319|PMID:16371502|PMID:17036997|PMID:18381613|PMID:19250381|PMID:19461658|PMID:20146813|PMID:20224275|PMID:20301429|PMID:21117948|PMID:21557232|PMID:22575033|PMID:22906306|PMID:24001616|PMID:24033266|PMID:24053799|PMID:24746455|PMID:24814232|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25991456|PMID:26445815|PMID:26467025|PMID:26818607|PMID:26969326|PMID:27082237|PMID:27177047|PMID:27621663|PMID:27652356|PMID:27729456|PMID:28492532|PMID:28766844|PMID:29048421|PMID:29196752|PMID:29484972|PMID:30303587|PMID:30311386|PMID:30368385|PMID:31095577|PMID:31345219|PMID:31589614|PMID:31827501|PMID:31980526|PMID:32747562|PMID:32906206|PMID:33111345|PMID:33256196|PMID:33426078|PMID:33724713|PMID:33908410|PMID:34113375|PMID:34416374|PMID:34424407|PMID:34536124|PMID:34652575 8986161 Otof otoferlin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1344284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:12525542|PMID:14635104|PMID:18381613|PMID:19250381|PMID:20301429|PMID:22575033|PMID:24033266|PMID:25741868|PMID:26632695|PMID:27082237|PMID:28492532|PMID:30303587|PMID:34113375 8986161 Otof otoferlin gene DOID:0060744 Pendred syndrome ISO RGD:1344284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:30311386 8986161 Otof otoferlin gene DOID:0080600 COVID-19 ISO RGD:1344284 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8986161 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:7240710 20180130 OMIM 8986161 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 PMID:10192385|PMID:10878664|PMID:10903124|PMID:11483641|PMID:12114484|PMID:12127154|PMID:12525542|PMID:14635104|PMID:16097006|PMID:16226319|PMID:16283880|PMID:16371502|PMID:17036997|PMID:17512949|PMID:17576681|PMID:18381613|PMID:18804553|PMID:19250381|PMID:19461658|PMID:19636622|PMID:20146813|PMID:20211493|PMID:20224275|PMID:20230791|PMID:20301429|PMID:20504331|PMID:21117948|PMID:21216247|PMID:21557232|PMID:21935370|PMID:22575033|PMID:22607986|PMID:22906306|PMID:23208854|PMID:23562982|PMID:24033266|PMID:24053799|PMID:24746455|PMID:24814232|PMID:25262649|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25991456|PMID:26186295|PMID:26434960|PMID:26445815|PMID:26467025|PMID:26632695|PMID:26763877|PMID:26818607|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27082237|PMID:27177047|PMID:27621663|PMID:27652356|PMID:27657688|PMID:27729456|PMID:27766948|PMID:27821677|PMID:28492532|PMID:28766844|PMID:29048421|PMID:29362361|PMID:29484972|PMID:29752989|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30368385|PMID:31095577|PMID:31589614|PMID:31827501|PMID:31980526|PMID:32747562|PMID:32906206|PMID:33095980|PMID:33256196|PMID:34113375|PMID:34536124|PMID:34599368|PMID:34652575|PMID:8789454|PMID:9536098|PMID:9657592 8986161 Otof otoferlin gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition PMID:10192385|PMID:10878664|PMID:10903124|PMID:11483641|PMID:12114484|PMID:12127154|PMID:12525542|PMID:14635104|PMID:16097006|PMID:16199547|PMID:16226319|PMID:16283880|PMID:16371502|PMID:17036997|PMID:17512949|PMID:17576681|PMID:18381613|PMID:18804553|PMID:19250381|PMID:19461658|PMID:19636622|PMID:20146813|PMID:20211493|PMID:20224275|PMID:20230791|PMID:20301429|PMID:20504331|PMID:21117948|PMID:21216247|PMID:21557232|PMID:21935370|PMID:22575033|PMID:22607986|PMID:22906306|PMID:23208854|PMID:23562982|PMID:24001616|PMID:24033266|PMID:24053799|PMID:24746455|PMID:24814232|PMID:25262649|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25991456|PMID:26186295|PMID:26188103|PMID:26434960|PMID:26445815|PMID:26467025|PMID:26632695|PMID:26763877|PMID:26818607|PMID:26969326|PMID:27018795|PMID:27068579|PMID:27082237|PMID:27177047|PMID:27621663|PMID:27652356|PMID:27657688|PMID:27729456|PMID:27766948|PMID:27821677|PMID:28075205|PMID:28335750|PMID:28492532|PMID:28766844|PMID:29048421|PMID:29196752|PMID:29362361|PMID:29484972|PMID:29752989|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30368385|PMID:30482216|PMID:31095577|PMID:31345219|PMID:31589614|PMID:31827501|PMID:31980526|PMID:32747562|PMID:32899707|PMID:32906206|PMID:33095980|PMID:33111345|PMID:33256196|PMID:33426078|PMID:33528103|PMID:33724713|PMID:33908410|PMID:34113375|PMID:34416374|PMID:34424407|PMID:34536124|PMID:34599368|PMID:34652575|PMID:35982127|PMID:8789454|PMID:9536098|PMID:9657592 8986161 Otof otoferlin gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1344284 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 8986161 Otof otoferlin gene DOID:10003 sensorineural hearing loss ISO RGD:1344284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:12525542|PMID:16199547|PMID:16371502|PMID:18381613|PMID:19250381|PMID:19461658|PMID:19636622|PMID:20146813|PMID:20301429|PMID:21117948|PMID:22575033|PMID:22906306|PMID:24033266|PMID:24746455|PMID:25741868|PMID:26188103|PMID:26445815|PMID:26467025|PMID:27082237|PMID:27729456|PMID:28492532|PMID:29196752|PMID:29484972|PMID:30311386|PMID:31581539|PMID:31589614|PMID:31980526|PMID:32747562|PMID:32906206|PMID:33256196|PMID:34424407|PMID:34536124|PMID:34599368|PMID:34652575 8986161 Otof otoferlin gene DOID:1459 hypothyroidism ISO RGD:620646 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cochlea (rat) PMID:17376979|REF_RGD_ID:9491752 8986161 Otof otoferlin gene DOID:1909 melanoma ISO RGD:1344284 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8986161 Otof otoferlin gene DOID:630 genetic disease ISO RGD:1344284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 8986161 Otof otoferlin gene DOID:9001890 Auditory Neuropathy ISO RGD:1344284 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy 8986161 Otof otoferlin gene DOID:9002687 Arthrogryposis and Ectodermal Dysplasia ISO RGD:1344284 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Trichooculodermovertebral syndrome PMID:16199547|PMID:18381613|PMID:19250381|PMID:22575033|PMID:28492532|PMID:35802133|PMID:36633841 8986161 Otof otoferlin gene DOID:9004538 Hearing Loss ISO RGD:1344284 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:18381613|PMID:20146813|PMID:20301429|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:30311386|PMID:31581539 8986161 Otof otoferlin gene DOID:9008681 Deafness ISO RGD:1344284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:0080199 colorectal carcinoma ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:insertion, deletion:exon:c.939_940insA, c.939delA (human) PMID:10637515|REF_RGD_ID:9588975 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:0080803 cranioectodermal dysplasia 1 ISO RGD:1313885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:28492532 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:0111947 immunodeficiency 21 ISO RGD:1313885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:12849 autistic disorder ISO RGD:1313885 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19921286 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:1324 lung cancer susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E346K (rs140693) (human) PMID:18495292|REF_RGD_ID:9588970 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E346K (rs140693) (human) PMID:15205355|REF_RGD_ID:9588976 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS5-140A>G (rs3138355) (human) PMID:25162968|REF_RGD_ID:9588980 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:6039 uveal melanoma ISO RGD:1313885 D RGD:7240710 20240320 OMIM 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:6039 uveal melanoma ISO RGD:1313885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1 PMID:28492532|PMID:29760383|PMID:30049810|PMID:30714079|PMID:32239153|PMID:35460607 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:630 genetic disease ISO RGD:1313885 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snps:cds, intron:p.E346K, IVS6-218C>T (rs140693, rs2005618) (human) PMID:22505706|REF_RGD_ID:9588978 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS5-140A>G (rs3138355), IVS6-218C>T (rs2005618) (human) PMID:20676650|REF_RGD_ID:9588977 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9000676 Tumor Predisposition Syndrome 2 ISO RGD:1313885 D RGD:7240710 20240320 OMIM 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9000676 Tumor Predisposition Syndrome 2 ISO RGD:1313885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tumor predisposition syndrome 2 PMID:25741868|PMID:28492532|PMID:29760383|PMID:30049810|PMID:30714079|PMID:31322271|PMID:32239153|PMID:35460607 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9002245 Intestinal Neoplasms severity ISO RGD:1313886 D RGD:9068941 20200609 RGD PMID:12130785|REF_RGD_ID:9588981 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313885 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:30049810|PMID:33871441|PMID:35381620 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1313885 D RGD:9068941 20200609 RGD mRNA:increased expression:colon, rectum (human) PMID:18097604|REF_RGD_ID:9588979 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1313885 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.E346K (human) PMID:19469655|REF_RGD_ID:2316846 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1313885 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 8986223 Mbd4 methyl-CpG binding domain 4, DNA glycosylase gene DOID:9270 alkaptonuria ISO RGD:1313885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8986239 Saysd1 SAYSVFN motif domain containing 1 gene DOID:630 genetic disease ISO RGD:1322030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986245 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25741868 8986245 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8986245 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8986245 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1321883 D RGD:7240710 20200930 OMIM 8986245 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:0112139 nuclear type mitochondrial complex I deficiency 35 ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 PMID:28040730 8986245 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:1826 epilepsy ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8986245 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8986245 Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 gene DOID:630 genetic disease ISO RGD:1321883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8986275 Pdilt protein disulfide isomerase like, testis expressed gene DOID:630 genetic disease ISO RGD:1602970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986291 Mrpl55 mitochondrial ribosomal protein L55 gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1317775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 8986291 Mrpl55 mitochondrial ribosomal protein L55 gene DOID:1540 parathyroid carcinoma ISO RGD:1317775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8986291 Mrpl55 mitochondrial ribosomal protein L55 gene DOID:630 genetic disease ISO RGD:1317775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986291 Mrpl55 mitochondrial ribosomal protein L55 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8986303 Il21 interleukin 21 gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:21204603|PMID:29370719|REF_RGD_ID:127285376|REF_RGD_ID:127285545 8986303 Il21 interleukin 21 gene DOID:0081153 common variable immunodeficiency 11 ISO RGD:1316553 D RGD:7240710 20180130 OMIM 8986303 Il21 interleukin 21 gene DOID:0081153 common variable immunodeficiency 11 ISO RGD:1316553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 11 PMID:24033266|PMID:24746753|PMID:25741868|PMID:28492532 8986303 Il21 interleukin 21 gene DOID:10608 celiac disease ISO RGD:1316553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17558408 8986303 Il21 interleukin 21 gene DOID:10608 celiac disease susceptibility ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:blood serum (human) PMID:22077623|REF_RGD_ID:127285362 8986303 Il21 interleukin 21 gene DOID:11168 anogenital venereal wart ISO RGD:1316553 D RGD:9068941 20210618 RGD protein:decreased expression:blood serum (human) PMID:31414711|REF_RGD_ID:127285371 8986303 Il21 interleukin 21 gene DOID:12177 common variable immunodeficiency ISO RGD:1316553 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IL21 DEFICIENCY PMID:24033266|PMID:24746753|PMID:25741868|PMID:28492532 8986303 Il21 interleukin 21 gene DOID:12206 dengue hemorrhagic fever severity ISO RGD:1316553 D RGD:9068941 20210618 RGD protein:increased expression:blood serum (human) PMID:24858204|REF_RGD_ID:127285368 8986303 Il21 interleukin 21 gene DOID:12365 malaria exacerbates ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:25763578|REF_RGD_ID:127285358 8986303 Il21 interleukin 21 gene DOID:1909 melanoma treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:22477528|REF_RGD_ID:127285553 8986303 Il21 interleukin 21 gene DOID:2043 hepatitis B ISO RGD:1316554 D RGD:9068941 20210625 RGD mRNA:increased expression:spleen (C57BL/6N mouse) PMID:29544722|REF_RGD_ID:127285375 8986303 Il21 interleukin 21 gene DOID:2048 autoimmune hepatitis exacerbates ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:blood serum, peripheral blood mononuclear cell (human) PMID:27386263|REF_RGD_ID:127285554 8986303 Il21 interleukin 21 gene DOID:234 colon adenocarcinoma treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:17695518|REF_RGD_ID:127285540 8986303 Il21 interleukin 21 gene DOID:2841 asthma ISO RGD:1316553 D RGD:9068941 20200609 RGD DNA:SNP:exon:5250C>T (human) PMID:18802358|REF_RGD_ID:5147396 8986303 Il21 interleukin 21 gene DOID:321 tropical spastic paraparesis ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:decreased expression:blood serum (human) PMID:28378248|REF_RGD_ID:127285561 8986303 Il21 interleukin 21 gene DOID:3388 periodontal disease ISO RGD:1307384 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node, B cell PMID:20618701|REF_RGD_ID:5024938 8986303 Il21 interleukin 21 gene DOID:3944 Arenaviridae infectious disease ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:21423809|REF_RGD_ID:127285543 8986303 Il21 interleukin 21 gene DOID:4270 encephalitozoonosis ISO RGD:1316554 D RGD:9068941 20210625 RGD protein:increased expression:CD4-positive helper T cell (mouse) PMID:26597007|REF_RGD_ID:11086452 8986303 Il21 interleukin 21 gene DOID:4483 rhinitis ISO RGD:1316554 D RGD:9068941 20200609 RGD PMID:17982108|REF_RGD_ID:5147397 8986303 Il21 interleukin 21 gene DOID:5082 liver cirrhosis exacerbates ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with Chronic Hepatitis B;mRNA:increased expression: liver (human) PMID:24611989|REF_RGD_ID:127285546 8986303 Il21 interleukin 21 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with hepatitis B;protein:decreased expression:blood serum (human) PMID:22948268|REF_RGD_ID:127285366 8986303 Il21 interleukin 21 gene DOID:630 genetic disease ISO RGD:1316553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8986303 Il21 interleukin 21 gene DOID:684 hepatocellular carcinoma ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with hepatitis B;DNA:SNPS, haplotype:(rs13143866, rs2221903, rs907715) (human) PMID:25892873|REF_RGD_ID:127285359 8986303 Il21 interleukin 21 gene DOID:8566 herpes simplex ISO RGD:1316554 D RGD:9068941 20210625 RGD mRNA:increased expression:spleen (mouse) PMID:16406655|REF_RGD_ID:127285372 8986303 Il21 interleukin 21 gene DOID:8566 herpes simplex treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:19233474|REF_RGD_ID:127285367 8986303 Il21 interleukin 21 gene DOID:8704 genital herpes treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:24358128|REF_RGD_ID:127285365 8986303 Il21 interleukin 21 gene DOID:8869 neuromyelitis optica ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:cerebrospinal fluid (human) PMID:23041403|REF_RGD_ID:127285589 8986303 Il21 interleukin 21 gene DOID:9000238 Acute-On-Chronic Liver Failure ameliorates ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human) PMID:21692955|REF_RGD_ID:127285541 8986303 Il21 interleukin 21 gene DOID:9000371 influenza A ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:25251568|REF_RGD_ID:127285548 8986303 Il21 interleukin 21 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:25889760|REF_RGD_ID:127285552 8986303 Il21 interleukin 21 gene DOID:9001953 Pneumovirus Infections ISO RGD:1316554 D RGD:9068941 20210625 RGD mRNA:increased expression:lung (mouse) PMID:22238461|REF_RGD_ID:6892925 8986303 Il21 interleukin 21 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1307384 D RGD:9068941 20200609 RGD PMID:18997868|REF_RGD_ID:5147399 8986303 Il21 interleukin 21 gene DOID:9004017 Chronic Hepatitis C ameliorates ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:increased expression:liver, blood, CD4-positive, alpha-beta T cell (human) PMID:24170093|REF_RGD_ID:127285373 8986303 Il21 interleukin 21 gene DOID:9004283 Transplant Rejection ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with hepatitis B;DNA:SNPs, haplotype:intron, CDS:1472G>T, 5250C>T (rs2055979, rs4833837) (human) PMID:23656167|REF_RGD_ID:127285550 8986303 Il21 interleukin 21 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1316553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8986303 Il21 interleukin 21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8986303 Il21 interleukin 21 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:23667536|REF_RGD_ID:127285360 8986303 Il21 interleukin 21 gene DOID:9007204 Dysbiosis treatment ISO RGD:1307384 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 8986303 Il21 interleukin 21 gene DOID:9008114 Helicobacter Infections ISO RGD:1316553 D RGD:9068941 20210625 RGD mRNA, protein:increased expression:mucosa of stomach (human) PMID:17442980|REF_RGD_ID:127285542 8986303 Il21 interleukin 21 gene DOID:9008114 Helicobacter Infections ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:31383743|REF_RGD_ID:127285544 8986303 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B exacerbates ISO RGD:1316553 D RGD:9068941 20210618 RGD protein:increased expression:blood serum (human) PMID:25243706|REF_RGD_ID:127285378 8986303 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B exacerbates ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:decreased expression:blood serum (human) PMID:28500636|REF_RGD_ID:127285361 8986303 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1316553 D RGD:9068941 20210625 RGD DNA:SNP:intron: (rs2221903) (human) PMID:23354321|REF_RGD_ID:127285353 8986303 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316553 D RGD:9068941 20210625 RGD DNA:SNPs:introns: (rs2221903, rs907715) (human) PMID:29879024|REF_RGD_ID:127285539 8986303 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316553 D RGD:9068941 20210625 RGD associated with non-alcoholic fatty liver disease PMID:26840345|REF_RGD_ID:127285549 8986303 Il21 interleukin 21 gene DOID:9008163 Chronic Hepatitis B treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:30260401|PMID:31281514|PMID:32373234|REF_RGD_ID:127285364|REF_RGD_ID:127285369|REF_RGD_ID:127285551 8986303 Il21 interleukin 21 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316553 D RGD:9068941 20210625 RGD protein:decreased expression:colorectum (human) PMID:28483840|REF_RGD_ID:127285377 8986303 Il21 interleukin 21 gene DOID:9065 leishmaniasis exacerbates ISO RGD:1316554 D RGD:9068941 20210625 RGD protein:increased expression:popliteal lymph node (mouse) PMID:22429963|REF_RGD_ID:127285547 8986303 Il21 interleukin 21 gene DOID:9074 systemic lupus erythematosus ISO RGD:1316553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17911475 8986303 Il21 interleukin 21 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1316553 D RGD:9068941 20210625 RGD DNA:SNP:intron: (rs907715) (human) PMID:23236436|REF_RGD_ID:127285363 8986303 Il21 interleukin 21 gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1316554 D RGD:9068941 20210625 RGD associated with Arenaviridae infectious disease PMID:27300756|REF_RGD_ID:127285370 8986303 Il21 interleukin 21 gene DOID:9744 type 1 diabetes mellitus treatment ISO RGD:1316554 D RGD:9068941 20210625 RGD PMID:28711285|REF_RGD_ID:127285590 8986311 Rbmxl2 RBMX like 2 gene DOID:630 genetic disease ISO RGD:1603656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986360 Akap4 A-kinase anchoring protein 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8986360 Akap4 A-kinase anchoring protein 4 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8986360 Akap4 A-kinase anchoring protein 4 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8986360 Akap4 A-kinase anchoring protein 4 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8986360 Akap4 A-kinase anchoring protein 4 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8986360 Akap4 A-kinase anchoring protein 4 gene DOID:0112126 Stocco Dos Santos type X-linked intellectual disability ISO RGD:732830 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type PMID:25670966 8986360 Akap4 A-kinase anchoring protein 4 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:732830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8986360 Akap4 A-kinase anchoring protein 4 gene DOID:12336 male infertility ISO RGD:732831 D RGD:9068941 20200609 RGD PMID:12167408|REF_RGD_ID:632500 8986360 Akap4 A-kinase anchoring protein 4 gene DOID:12849 autistic disorder ISO RGD:732830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8986360 Akap4 A-kinase anchoring protein 4 gene DOID:630 genetic disease ISO RGD:732830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986370 Tut1 terminal uridylyl transferase 1, U6 snRNA-specific gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1345565 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8986370 Tut1 terminal uridylyl transferase 1, U6 snRNA-specific gene DOID:1059 intellectual disability ISO RGD:1345565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8986370 Tut1 terminal uridylyl transferase 1, U6 snRNA-specific gene DOID:630 genetic disease ISO RGD:1345565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986391 Dzip3 DAZ interacting zinc finger protein 3 gene DOID:630 genetic disease ISO RGD:1602727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986430 Wdr64 WD repeat domain 64 gene DOID:0111261 fumarase deficiency ISO RGD:1605299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 8986430 Wdr64 WD repeat domain 64 gene DOID:1540 parathyroid carcinoma ISO RGD:1605299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8986430 Wdr64 WD repeat domain 64 gene DOID:630 genetic disease ISO RGD:1605299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986430 Wdr64 WD repeat domain 64 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8986430 Wdr64 WD repeat domain 64 gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1605299 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 8986430 Wdr64 WD repeat domain 64 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1319106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:11743580|PMID:25741868|PMID:28492532|PMID:31673878 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1319106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Intermediate PMID:25741868|PMID:28492532 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1319106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:28492532 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0080036 SOST-related sclerosing bone dysplasia ISO RGD:1319106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Elevated alkaline phosphatase PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25337607|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28492532|PMID:31589614|PMID:32183277|PMID:32376792|PMID:33477664|PMID:35662277|PMID:36140714 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1319106 D RGD:7240710 20180130 OMIM 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1319106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal dominant Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12707075|PMID:12843336|PMID:12868504|PMID:14561495|PMID:15019704|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18231710|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19089472|PMID:19340293|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21212451|PMID:21322820|PMID:21326314|PMID:21365284|PMID:21519004|PMID:21681106|PMID:21692914|PMID:21753178|PMID:21840889|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22546700|PMID:22730194|PMID:22971097|PMID:23456260|PMID:23628762|PMID:23963299|PMID:24078732|PMID:24627108|PMID:25231362|PMID:25337607|PMID:25429913|PMID:25614874|PMID:257|PMID:25741868|PMID:26257172|PMID:26467025|PMID:26525999|PMID:26848201|PMID:27549087|PMID:27841286|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:31589614|PMID:31673878|PMID:32183277|PMID:32376792|PMID:33136338|PMID:33187793|PMID:33477664|PMID:33903021|PMID:34366782|PMID:35656516|PMID:35662277|PMID:36140714 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:1319106 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G327D (human) PMID:21365284|REF_RGD_ID:12738395 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1319106 D RGD:7240710 20180130 OMIM 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1319106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, autosomal recessive PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12707075|PMID:12868504|PMID:14561495|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:16343542|PMID:17039978|PMID:17433678|PMID:17576681|PMID:18021315|PMID:18062449|PMID:18231710|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19340293|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21212451|PMID:21322820|PMID:21326314|PMID:21365284|PMID:21519004|PMID:21692914|PMID:21753178|PMID:21840889|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22546700|PMID:22971097|PMID:23456260|PMID:23466821|PMID:23628762|PMID:23963299|PMID:25231362|PMID:25337607|PMID:25429913|PMID:25614874|PMID:257|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26525999|PMID:26648837|PMID:26848201|PMID:27549087|PMID:27841286|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:28902413|PMID:29184355|PMID:29372391|PMID:29858556|PMID:31069529|PMID:31589614|PMID:31673878|PMID:31827005|PMID:32183277|PMID:32298515|PMID:32376792|PMID:33136338|PMID:33179230|PMID:33187793|PMID:33219631|PMID:33477664|PMID:33903021|PMID:34169998|PMID:34190362|PMID:34366782|PMID:35656516|PMID:35662277|PMID:36140714|PMID:9536098 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A ISO RGD:1319106 D RGD:7240710 20180130 OMIM 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A ISO RGD:1319106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A PMID:11743580|PMID:12499475|PMID:12566285|PMID:14561495|PMID:16172208|PMID:16199547|PMID:17001820|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:21212451|PMID:21322820|PMID:21365284|PMID:21890626|PMID:25231362|PMID:25337607|PMID:25614874|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28220846|PMID:28492532|PMID:29858556|PMID:31069529|PMID:31589614|PMID:31673878|PMID:32183277|PMID:32376792|PMID:33477664|PMID:35662277|PMID:36140714 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1319106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25337607|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28492532|PMID:31589614|PMID:32183277|PMID:32376792|PMID:33477664|PMID:35662277|PMID:36140714 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1319106 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12843336|PMID:12868504|PMID:14561495|PMID:15019704|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:16343542|PMID:17001820|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18062449|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19340293|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21322820|PMID:21326314|PMID:21519004|PMID:21692914|PMID:21753178|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22546700|PMID:22730194|PMID:22971097|PMID:23456260|PMID:23466821|PMID:23628762|PMID:23963299|PMID:24078732|PMID:24627108|PMID:25231362|PMID:25337607|PMID:25429913|PMID:25614874|PMID:257|PMID:25741868|PMID:26467025|PMID:26525999|PMID:26848201|PMID:27549087|PMID:27841286|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:29858556|PMID:31069529|PMID:31673878|PMID:32376792|PMID:33136338|PMID:33187793|PMID:34366782 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1319106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12843336|PMID:12868504|PMID:14561495|PMID:15019704|PMID:15192818|PMID:15377708|PMID:15469949|PMID:15805163|PMID:15944907|PMID:16172208|PMID:16199547|PMID:16343542|PMID:17001820|PMID:17039978|PMID:17433678|PMID:18021315|PMID:18062449|PMID:18421898|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19340293|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20685671|PMID:20849849|PMID:21199105|PMID:21322820|PMID:21326314|PMID:21519004|PMID:21692914|PMID:21753178|PMID:21890626|PMID:21965300|PMID:22206013|PMID:22546700|PMID:22730194|PMID:22971097|PMID:23456260|PMID:23466821|PMID:23628762|PMID:23963299|PMID:24078732|PMID:24627108|PMID:25231362|PMID:25337607|PMID:25429913|PMID:25614874|PMID:257|PMID:25741868|PMID:26467025|PMID:26525999|PMID:26848201|PMID:27549087|PMID:27841286|PMID:28220846|PMID:28244113|PMID:28492532|PMID:28495047|PMID:28751717|PMID:29372391|PMID:29858556|PMID:31069529|PMID:31589614|PMID:31673878|PMID:32183277|PMID:32376792|PMID:33136338|PMID:33187793|PMID:33477664|PMID:34366782|PMID:35662277|PMID:36140714 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:1389 polyneuropathy ISO RGD:1319106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25337607|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28492532|PMID:31589614|PMID:32183277|PMID:32376792|PMID:33477664|PMID:35662277|PMID:36140714 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1319106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25337607|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28492532|PMID:31589614|PMID:32183277|PMID:32376792|PMID:33477664|PMID:35662277|PMID:36140714 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:574 peripheral nervous system disease ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:15377708|PMID:18421898|PMID:18504680|PMID:20301641|PMID:20301711|PMID:21965300|PMID:25429913|PMID:25741868|PMID:28244113|PMID:28492532|PMID:28751717|PMID:31673878 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:630 genetic disease ISO RGD:1319106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12499475|PMID:14561495|PMID:15805163|PMID:17039978|PMID:17433678|PMID:17576681|PMID:18021315|PMID:18492089|PMID:18504680|PMID:18812441|PMID:18991200|PMID:19500985|PMID:19782751|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20849849|PMID:21199105|PMID:21322820|PMID:21326314|PMID:21753178|PMID:21890626|PMID:22206013|PMID:22546700|PMID:25231362|PMID:25337607|PMID:25614874|PMID:257|PMID:25741868|PMID:26467025|PMID:26525999|PMID:27549087|PMID:28244113|PMID:28492532|PMID:28495047|PMID:31589614|PMID:32183277|PMID:32376792|PMID:33136338|PMID:33477664|PMID:34366782|PMID:35662277|PMID:36140714|PMID:9536098 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:7319 axonal neuropathy ISO RGD:1319106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Axonal neuropathy PMID:14561495|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301711|PMID:25231362|PMID:25337607|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28492532|PMID:31589614|PMID:32183277|PMID:32376792|PMID:33477664|PMID:35662277|PMID:36140714 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:870 neuropathy ISO RGD:1319106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:15377708|PMID:18421898|PMID:18504680|PMID:20301641|PMID:20301711|PMID:21965300|PMID:25429913|PMID:25741868|PMID:28244113|PMID:28492532|PMID:28751717|PMID:31673878 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1319106 D RGD:7240710 20180130 OMIM 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:9003332 Charcot-Marie-Tooth Disease Type 4A, Axonal Form ISO RGD:1319106 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive PMID:11743579|PMID:11743580|PMID:12499475|PMID:12566285|PMID:12601710|PMID:12707075|PMID:14561495|PMID:15019704|PMID:15805163|PMID:17039978|PMID:17433678|PMID:18504680|PMID:18991200|PMID:19500985|PMID:20232219|PMID:20301641|PMID:20301711|PMID:20849849|PMID:21365284|PMID:21519004|PMID:21840889|PMID:25231362|PMID:25337607|PMID:25741868|PMID:26467025|PMID:26848201|PMID:27549087|PMID:28492532|PMID:31589614|PMID:32183277|PMID:32376792|PMID:33187793|PMID:33477664|PMID:35662277|PMID:36140714 8986462 Gdap1 ganglioside induced differentiation associated protein 1 gene DOID:9008305 Talipes Cavus ISO RGD:1319106 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:28492532 8986472 Washc2c WASH complex subunit 2C gene DOID:630 genetic disease ISO RGD:1349964 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986535 Clca2 chloride channel accessory 2 gene DOID:630 genetic disease ISO RGD:1312594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986535 Clca2 chloride channel accessory 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1312594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8986562 Tmod1 tropomodulin 1 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8986562 Tmod1 tropomodulin 1 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8986562 Tmod1 tropomodulin 1 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8986562 Tmod1 tropomodulin 1 gene DOID:1059 intellectual disability ISO RGD:1605431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8986562 Tmod1 tropomodulin 1 gene DOID:12712 nephronophthisis ISO RGD:1605431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8986562 Tmod1 tropomodulin 1 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1605431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8986562 Tmod1 tropomodulin 1 gene DOID:5119 ovarian cyst ISO RGD:1605431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8986562 Tmod1 tropomodulin 1 gene DOID:630 genetic disease ISO RGD:1605431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986562 Tmod1 tropomodulin 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1605431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8986562 Tmod1 tropomodulin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8986579 Rpf2 ribosome production factor 2 homolog gene DOID:630 genetic disease ISO RGD:1315787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986610 Casp6 caspase 6 gene DOID:0060074 ductal carcinoma in situ ISO RGD:732006 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10574243|REF_RGD_ID:2301339 8986610 Casp6 caspase 6 gene DOID:1002 endometritis treatment ISO RGD:70967 D RGD:9068941 20200609 RGD PMID:26920733|REF_RGD_ID:13782281 8986610 Casp6 caspase 6 gene DOID:10286 prostate carcinoma ISO RGD:70967 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:11406539|REF_RGD_ID:1582381 8986610 Casp6 caspase 6 gene DOID:10652 Alzheimer's disease ISO RGD:732006 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 8986610 Casp6 caspase 6 gene DOID:11132 prostatic hypertrophy ISO RGD:732006 D RGD:9068941 20200609 RGD PMID:15507514|REF_RGD_ID:2301337 8986610 Casp6 caspase 6 gene DOID:1824 status epilepticus ISO RGD:70967 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:hippocampus PMID:15749343|REF_RGD_ID:2301314 8986610 Casp6 caspase 6 gene DOID:2316 brain ischemia ISO RGD:70967 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:11311984|REF_RGD_ID:2301331 8986610 Casp6 caspase 6 gene DOID:3525 middle cerebral artery infarction ISO RGD:70967 D RGD:9068941 20200609 RGD PMID:26868427|REF_RGD_ID:13782346 8986610 Casp6 caspase 6 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732006 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909 8986610 Casp6 caspase 6 gene DOID:4001 ovarian carcinoma ISO RGD:732006 D RGD:9068941 20200609 RGD PMID:17283169|REF_RGD_ID:2301336 8986610 Casp6 caspase 6 gene DOID:630 genetic disease ISO RGD:732006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986610 Casp6 caspase 6 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:732006 D RGD:9068941 20220414 RGD human cells in mouse model PMID:31952546|REF_RGD_ID:151667904 8986610 Casp6 caspase 6 gene DOID:9004009 Reperfusion Injury ISO RGD:70967 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:small intestine mucosa PMID:15010362|REF_RGD_ID:2301320 8986610 Casp6 caspase 6 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:70967 D RGD:9068941 20200609 RGD PMID:29621761|REF_RGD_ID:13782275 8986610 Casp6 caspase 6 gene DOID:9004484 Sepsis ISO RGD:70967 D RGD:9068941 20200609 RGD protein:increased activity:thymus, T cell PMID:11086028|REF_RGD_ID:2301332 8986610 Casp6 caspase 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70967 D RGD:9068941 20200609 RGD protein:increased activity:heart left ventricle PMID:15662549|REF_RGD_ID:2301316 8986610 Casp6 caspase 6 gene DOID:9008939 Breast Neoplasms ISO RGD:732006 D RGD:9068941 20200609 RGD PMID:15210759|REF_RGD_ID:2301338 8986610 Casp6 caspase 6 gene DOID:9008939 Breast Neoplasms ISO RGD:732006 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10574243|REF_RGD_ID:2301339 8986621 CUNH14orf93 chromosome unknown C14orf93 homolog gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8986621 CUNH14orf93 chromosome unknown C14orf93 homolog gene DOID:630 genetic disease ISO RGD:1348927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986621 CUNH14orf93 chromosome unknown C14orf93 homolog gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348927 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8986621 CUNH14orf93 chromosome unknown C14orf93 homolog gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348927 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8986635 Ptpn9 protein tyrosine phosphatase non-receptor type 9 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 8986635 Ptpn9 protein tyrosine phosphatase non-receptor type 9 gene DOID:1826 epilepsy ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8986635 Ptpn9 protein tyrosine phosphatase non-receptor type 9 gene DOID:2717 Bloom syndrome ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8986635 Ptpn9 protein tyrosine phosphatase non-receptor type 9 gene DOID:5419 schizophrenia ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8986635 Ptpn9 protein tyrosine phosphatase non-receptor type 9 gene DOID:630 genetic disease ISO RGD:1353327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986635 Ptpn9 protein tyrosine phosphatase non-receptor type 9 gene DOID:9256 colorectal cancer ISO RGD:1353327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8986652 LOC102027374 keratin-associated protein 17-1 gene DOID:630 genetic disease ISO RGD:1343387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986657 Dok4 docking protein 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1320786 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8986657 Dok4 docking protein 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1320786 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8986657 Dok4 docking protein 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8986657 Dok4 docking protein 4 gene DOID:630 genetic disease ISO RGD:1320786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986678 Pacsin3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1316456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8986678 Pacsin3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 8986678 Pacsin3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:1059 intellectual disability ISO RGD:1316456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8986678 Pacsin3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1316456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8986678 Pacsin3 protein kinase C and casein kinase substrate in neurons 3 gene DOID:630 genetic disease ISO RGD:1316456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986694 Cited4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1354399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8986694 Cited4 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 gene DOID:630 genetic disease ISO RGD:1354399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986699 Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313612 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8986699 Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:12849 autistic disorder ISO RGD:1313612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8986699 Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:1540 parathyroid carcinoma ISO RGD:1313612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8986699 Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:630 genetic disease ISO RGD:1313612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986699 Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313612 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8986699 Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8986734 Slc15a4 solute carrier family 15 member 4 gene DOID:630 genetic disease ISO RGD:733038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986734 Slc15a4 solute carrier family 15 member 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:733038 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:68468 D RGD:7240710 20180130 OMIM 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:68468 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency PMID:12116245|PMID:14513299|PMID:14758361|PMID:15220035|PMID:15264278|PMID:15483095|PMID:15793702|PMID:16199547|PMID:16470797|PMID:17576681|PMID:18230729|PMID:18551037|PMID:18559916|PMID:19837910|PMID:20124576|PMID:20188793|PMID:20410220|PMID:20732302|PMID:20940534|PMID:21070833|PMID:21741353|PMID:22162478|PMID:22252407|PMID:22547083|PMID:23878291|PMID:24847272|PMID:25741868|PMID:26670660|PMID:27068427|PMID:28492532|PMID:28841001|PMID:31598952|PMID:31837199|PMID:31888681|PMID:32242900|PMID:33666875|PMID:33864926|PMID:34009138|PMID:9360545|PMID:9536098 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:68468 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia PMID:14758361|PMID:15220035|PMID:15350602|PMID:15793702|PMID:16199547|PMID:17635179|PMID:18230729|PMID:18551037|PMID:18559916|PMID:18930113|PMID:19837910|PMID:20410220|PMID:20732302|PMID:21741353|PMID:22162478|PMID:22252407|PMID:22462747|PMID:23365120|PMID:23878291|PMID:25741868|PMID:27068427|PMID:28492532|PMID:31598952|PMID:31888681|PMID:33864926|PMID:34009138|PMID:9360545 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:0080074 neural tube defect ISO RGD:68469 D RGD:9068941 20200609 RGD PMID:11742006|REF_RGD_ID:4889811 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:68468 D RGD:7240710 20210505 OMIM 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:0080925 cytochrome P450 oxidoreductase deficiency ISO RGD:68468 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | ClinVar Annotator: match by term: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency PMID:12116245|PMID:14758361|PMID:15220035|PMID:15264278|PMID:15350602|PMID:15483095|PMID:15793702|PMID:16199547|PMID:16467261|PMID:16470797|PMID:17505056|PMID:17576681|PMID:17635179|PMID:17827787|PMID:18230729|PMID:18433346|PMID:18551037|PMID:18559916|PMID:18930113|PMID:19837910|PMID:20124576|PMID:20188793|PMID:20410220|PMID:20732302|PMID:20940534|PMID:21070833|PMID:21084761|PMID:21190981|PMID:21741353|PMID:21843508|PMID:22162478|PMID:22252407|PMID:22462747|PMID:22547083|PMID:22719896|PMID:23353702|PMID:23365120|PMID:23878291|PMID:24847272|PMID:25294558|PMID:25712184|PMID:25741868|PMID:26670660|PMID:27068427|PMID:27376429|PMID:28492532|PMID:28841001|PMID:29168297|PMID:29215649|PMID:31299979|PMID:31598952|PMID:31669572|PMID:31837199|PMID:31888681|PMID:32242900|PMID:32725309|PMID:33666875|PMID:34009138|PMID:9360545|PMID:9536098 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:0081289 Antley-Bixler syndrome ISO RGD:68468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POR Deficiency PMID:12116245|PMID:14758361|PMID:15220035|PMID:15793702|PMID:18551037|PMID:20188793|PMID:20940534|PMID:21741353|PMID:22162478|PMID:25741868|PMID:27068427|PMID:28492532 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:10487 Hirschsprung's disease ISO RGD:68468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:11054 urinary bladder cancer ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:13938 amenorrhea ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14758361 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:1923 disorder of sexual development ISO RGD:68468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia | ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:3071 gliosarcoma ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9766669 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:5426 primary ovarian insufficiency ISO RGD:68468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:6000 congestive heart failure ISO RGD:68468 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:630 genetic disease ISO RGD:68468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:8927 learning disability ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21987461 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:9000310 Lung Injury ISO RGD:68468 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:33033841 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:9000793 Fine-Lubinsky Syndrome ISO RGD:68468 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Fine-Lubinsky syndrome PMID:22162478|PMID:25741868 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:68468 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:21070833|PMID:24847272|PMID:25741868|PMID:27068427|PMID:27376429|PMID:28492532|PMID:33666875 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:68468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:9005004 Musculoskeletal Abnormalities ISO RGD:68468 D RGD:9068941 20200609 RGD Antley-Bixler syndrome, OMIM:124015; DNA:mutations:cds:multiple (human) PMID:15793702|REF_RGD_ID:1599697 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:68468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:9006024 Hypotension ISO RGD:68335 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:15942020|REF_RGD_ID:1625563 8986751 Por P450 (cytochrome) oxidoreductase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15089088 8986778 Tenm2 teneurin transmembrane protein 2 gene DOID:10485 esophageal atresia ISO RGD:732274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8986778 Tenm2 teneurin transmembrane protein 2 gene DOID:303 substance-related disorder ISO RGD:732274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8986778 Tenm2 teneurin transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:732274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986828 Zbed5 zinc finger BED-type containing 5 gene DOID:630 genetic disease ISO RGD:1603615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:733997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:0060041 autism spectrum disorder ISO RGD:10822 D RGD:9068941 20220825 MouseDO 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733997 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:37047547 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:733997 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:10591 pre-eclampsia ISO RGD:733997 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:11714 gestational diabetes ISO RGD:733997 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:12849 autistic disorder ISO RGD:733997 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33166615 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:2722 acrodermatitis ISO RGD:733997 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:630 genetic disease ISO RGD:733997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:9002349 Charcot-Marie-Tooth Disease Type 1J ISO RGD:733997 D RGD:7240710 20240308 OMIM 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:9002349 Charcot-Marie-Tooth Disease Type 1J ISO RGD:733997 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, TYPE 1J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1J PMID:24627108|PMID:25741868|PMID:27549087|PMID:32949214|PMID:36302985 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:9006205 Animal Disease Models ISO RGD:733997 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:37047547 8986839 Itpr3 inositol 1,4,5-trisphosphate receptor type 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733997 D RGD:7240710 20240308 OMIM 8986901 Nans N-acetylneuraminate synthase gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 8986901 Nans N-acetylneuraminate synthase gene DOID:0080006 bone development disease ISO RGD:1323660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27213289 8986901 Nans N-acetylneuraminate synthase gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 8986901 Nans N-acetylneuraminate synthase gene DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ISO RGD:1323660 D RGD:7240710 20190315 OMIM 8986901 Nans N-acetylneuraminate synthase gene DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type ISO RGD:1323660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type PMID:15726110|PMID:25741868|PMID:27213289|PMID:28492532|PMID:34163424 8986901 Nans N-acetylneuraminate synthase gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 8986901 Nans N-acetylneuraminate synthase gene DOID:1059 intellectual disability ISO RGD:1323660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant 8986901 Nans N-acetylneuraminate synthase gene DOID:12712 nephronophthisis ISO RGD:1323660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 8986901 Nans N-acetylneuraminate synthase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 8986901 Nans N-acetylneuraminate synthase gene DOID:630 genetic disease ISO RGD:1323660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8986901 Nans N-acetylneuraminate synthase gene DOID:9001793 Generalized Epilepsy ISO RGD:1323660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 8986901 Nans N-acetylneuraminate synthase gene DOID:9008086 Developmental Disabilities ISO RGD:1323660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27213289 8986911 Rnf224 ring finger protein 224 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8986911 Rnf224 ring finger protein 224 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:5132816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8986911 Rnf224 ring finger protein 224 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8986911 Rnf224 ring finger protein 224 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:5132816 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8986911 Rnf224 ring finger protein 224 gene DOID:0081097 Rafiq syndrome ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8986911 Rnf224 ring finger protein 224 gene DOID:0110980 Joubert syndrome 1 ISO RGD:5132816 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8986911 Rnf224 ring finger protein 224 gene DOID:1826 epilepsy ISO RGD:5132816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8986911 Rnf224 ring finger protein 224 gene DOID:630 genetic disease ISO RGD:5132816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986911 Rnf224 ring finger protein 224 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:5132816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8986917 Tbl3 transducin beta like 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1313000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 8986917 Tbl3 transducin beta like 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1313000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8986917 Tbl3 transducin beta like 3 gene DOID:1826 epilepsy ISO RGD:1313000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8986917 Tbl3 transducin beta like 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1313000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8986917 Tbl3 transducin beta like 3 gene DOID:630 genetic disease ISO RGD:1313000 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8986950 Scpep1 serine carboxypeptidase 1 gene DOID:0080600 COVID-19 ISO RGD:1351146 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8986950 Scpep1 serine carboxypeptidase 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1351146 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8986950 Scpep1 serine carboxypeptidase 1 gene DOID:630 genetic disease ISO RGD:1351146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987011 Uxt ubiquitously expressed prefoldin like chaperone gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8987011 Uxt ubiquitously expressed prefoldin like chaperone gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 8987011 Uxt ubiquitously expressed prefoldin like chaperone gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8987011 Uxt ubiquitously expressed prefoldin like chaperone gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8987011 Uxt ubiquitously expressed prefoldin like chaperone gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1347196 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8987011 Uxt ubiquitously expressed prefoldin like chaperone gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1347196 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8987011 Uxt ubiquitously expressed prefoldin like chaperone gene DOID:12849 autistic disorder ISO RGD:1347196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8987011 Uxt ubiquitously expressed prefoldin like chaperone gene DOID:630 genetic disease ISO RGD:1347196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987011 Uxt ubiquitously expressed prefoldin like chaperone gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347196 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19318562 8987028 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1345862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8987028 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1345862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 8987028 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1345862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 8987028 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1345862 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 8987028 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1345862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8987028 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:630 genetic disease ISO RGD:1345862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987028 Ankmy1 ankyrin repeat and MYND domain containing 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1345862 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8987086 Relt RELT TNF receptor gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1313376 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8987086 Relt RELT TNF receptor gene DOID:0111722 amelogenesis imperfecta type 3C ISO RGD:1313376 D RGD:7240710 20190424 OMIM 8987086 Relt RELT TNF receptor gene DOID:0111722 amelogenesis imperfecta type 3C ISO RGD:1313376 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c PMID:28492532|PMID:30506946|PMID:32052416 8987086 Relt RELT TNF receptor gene DOID:1059 intellectual disability ISO RGD:1313376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8987086 Relt RELT TNF receptor gene DOID:2187 amelogenesis imperfecta ISO RGD:1313376 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:25741868|PMID:30506946|PMID:32052416 8987086 Relt RELT TNF receptor gene DOID:630 genetic disease ISO RGD:1313376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987107 Snx20 sorting nexin 20 gene DOID:0111122 nephronophthisis 14 ISO RGD:1604540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 8987107 Snx20 sorting nexin 20 gene DOID:630 genetic disease ISO RGD:1604540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987116 Ch25h cholesterol 25-hydroxylase gene DOID:630 genetic disease ISO RGD:1321560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987116 Ch25h cholesterol 25-hydroxylase gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1321560 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 8987116 Ch25h cholesterol 25-hydroxylase gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1321560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 8987126 Ttc9b tetratricopeptide repeat domain 9B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603894 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8987126 Ttc9b tetratricopeptide repeat domain 9B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8987126 Ttc9b tetratricopeptide repeat domain 9B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8987126 Ttc9b tetratricopeptide repeat domain 9B gene DOID:2340 craniosynostosis ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8987126 Ttc9b tetratricopeptide repeat domain 9B gene DOID:630 genetic disease ISO RGD:1603894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987126 Ttc9b tetratricopeptide repeat domain 9B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8987126 Ttc9b tetratricopeptide repeat domain 9B gene DOID:9269 maple syrup urine disease ISO RGD:1603894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8987126 Ttc9b tetratricopeptide repeat domain 9B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603894 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 8987140 Prkci protein kinase C iota gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:1331958 D RGD:9068941 20220825 MouseDO 8987140 Prkci protein kinase C iota gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:732937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 8987140 Prkci protein kinase C iota gene DOID:1062 Fanconi syndrome ISO RGD:732937 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 8987140 Prkci protein kinase C iota gene DOID:12849 autistic disorder ISO RGD:732937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 8987140 Prkci protein kinase C iota gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:732937 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:breast, cytoplasm PMID:18538170|REF_RGD_ID:2314932 8987140 Prkci protein kinase C iota gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:732937 D RGD:9068941 20200609 RGD PMID:12888898|REF_RGD_ID:2292460 8987140 Prkci protein kinase C iota gene DOID:630 genetic disease ISO RGD:732937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987140 Prkci protein kinase C iota gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620961 D RGD:9068941 20200609 RGD protein:increased expression:ventricle myocardium, membrane fraction PMID:14691046|REF_RGD_ID:2314944 8987140 Prkci protein kinase C iota gene DOID:9352 type 2 diabetes mellitus ISO RGD:1331958 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 8987140 Prkci protein kinase C iota gene DOID:9970 obesity ISO RGD:1331958 D RGD:9068941 20220825 MouseDO OMIM:601665 8987168 Nudcd3 NudC domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8987168 Nudcd3 NudC domain containing 3 gene DOID:630 genetic disease ISO RGD:1344595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987168 Nudcd3 NudC domain containing 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1344595 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8987178 Glrx3 glutaredoxin 3 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:69462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8987178 Glrx3 glutaredoxin 3 gene DOID:12859 choreatic disease ISO RGD:69462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dyskinesia PMID:32581362 8987178 Glrx3 glutaredoxin 3 gene DOID:630 genetic disease ISO RGD:69462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987178 Glrx3 glutaredoxin 3 gene DOID:9003936 Cardiomegaly ISO RGD:69462 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16809552 8987193 Bag4 BAG cochaperone 4 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1350570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 8987193 Bag4 BAG cochaperone 4 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1350570 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 8987193 Bag4 BAG cochaperone 4 gene DOID:1793 pancreatic cancer ISO RGD:1350570 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:10799310|REF_RGD_ID:2325852 8987193 Bag4 BAG cochaperone 4 gene DOID:607 paraplegia ISO RGD:1350570 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8987193 Bag4 BAG cochaperone 4 gene DOID:630 genetic disease ISO RGD:1350570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987206 Syt4 synaptotagmin 4 gene DOID:1059 intellectual disability ISO RGD:68582 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8987206 Syt4 synaptotagmin 4 gene DOID:11832 visual epilepsy ISO RGD:68397 D RGD:9068941 20200609 RGD PMID:8872307|REF_RGD_ID:730127 8987206 Syt4 synaptotagmin 4 gene DOID:1909 melanoma ISO RGD:68582 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 8987206 Syt4 synaptotagmin 4 gene DOID:630 genetic disease ISO RGD:68582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987220 Mtrfr mitochondrial translation release factor in rescue gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8987220 Mtrfr mitochondrial translation release factor in rescue gene DOID:0080068 Charcot-Marie-Tooth disease type 6 ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY PMID:25741868|PMID:31673878 8987220 Mtrfr mitochondrial translation release factor in rescue gene DOID:0110807 hereditary spastic paraplegia 55 ISO RGD:1605601 D RGD:7240710 20180130 OMIM 8987220 Mtrfr mitochondrial translation release factor in rescue gene DOID:0110807 hereditary spastic paraplegia 55 ISO RGD:1605601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 55 | ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive PMID:20598281|PMID:23188110|PMID:24080142|PMID:24198383|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25326635|PMID:25741868|PMID:26380172|PMID:26539891|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31753091|PMID:32581362|PMID:3479531 8987220 Mtrfr mitochondrial translation release factor in rescue gene DOID:0111487 combined oxidative phosphorylation deficiency 7 ISO RGD:1605601 D RGD:7240710 20180130 OMIM 8987220 Mtrfr mitochondrial translation release factor in rescue gene DOID:0111487 combined oxidative phosphorylation deficiency 7 ISO RGD:1605601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 PMID:20598281|PMID:23188110|PMID:24033266|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25326635|PMID:25741868|PMID:26380172|PMID:26539891|PMID:27858754|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31753091|PMID:32478789|PMID:32581362|PMID:34440436|PMID:34732400 8987220 Mtrfr mitochondrial translation release factor in rescue gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 8987220 Mtrfr mitochondrial translation release factor in rescue gene DOID:607 paraplegia ISO RGD:1605601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:20598281|PMID:23188110|PMID:24033266|PMID:24284555|PMID:24424123|PMID:25058219|PMID:25741868|PMID:26380172|PMID:27858754|PMID:28091420|PMID:28251916|PMID:28492532|PMID:30369941|PMID:31753091|PMID:34732400 8987220 Mtrfr mitochondrial translation release factor in rescue gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1605601 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20598281 8987220 Mtrfr mitochondrial translation release factor in rescue gene DOID:9001793 Generalized Epilepsy ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:20598281|PMID:25326635|PMID:25741868|PMID:26539891|PMID:32581362 8987220 Mtrfr mitochondrial translation release factor in rescue gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605601 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8987230 Dgkh diacylglycerol kinase eta gene DOID:630 genetic disease ISO RGD:1352279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987230 Dgkh diacylglycerol kinase eta gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20665664 8987272 Spi1 Spi-1 proto-oncogene gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1344411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8987272 Spi1 Spi-1 proto-oncogene gene DOID:0081142 agammaglobulinemia 10 ISO RGD:1344411 D RGD:7240710 20220202 OMIM 8987272 Spi1 Spi-1 proto-oncogene gene DOID:0081142 agammaglobulinemia 10 ISO RGD:1344411 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant PMID:25741868|PMID:33951726 8987272 Spi1 Spi-1 proto-oncogene gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1344411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 8987272 Spi1 Spi-1 proto-oncogene gene DOID:1059 intellectual disability ISO RGD:1344411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8987272 Spi1 Spi-1 proto-oncogene gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 8987272 Spi1 Spi-1 proto-oncogene gene DOID:1574 alcohol use disorder ISO RGD:1359607 D RGD:9068941 20200609 RGD protein:decreased expression:alveolar macrophage PMID:16272341|REF_RGD_ID:9586723 8987272 Spi1 Spi-1 proto-oncogene gene DOID:1574 alcohol use disorder treatment ISO RGD:1359607 D RGD:9068941 20200609 RGD PMID:21447000|REF_RGD_ID:9586725 8987272 Spi1 Spi-1 proto-oncogene gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1344411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28671687 8987272 Spi1 Spi-1 proto-oncogene gene DOID:630 genetic disease ISO RGD:1344411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987272 Spi1 Spi-1 proto-oncogene gene DOID:8692 myeloid leukemia ISO RGD:1344411 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17361223 8987272 Spi1 Spi-1 proto-oncogene gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1359607 D RGD:9068941 20200609 RGD protein:increased expression:CA1 field of hippocampus PMID:10713349|REF_RGD_ID:9586724 8987272 Spi1 Spi-1 proto-oncogene gene DOID:9004283 Transplant Rejection treatment ISO RGD:1359607 D RGD:9068941 20200609 RGD PMID:24282365|REF_RGD_ID:9586451 8987272 Spi1 Spi-1 proto-oncogene gene DOID:9119 acute myeloid leukemia ISO RGD:1344411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26237430 8987272 Spi1 Spi-1 proto-oncogene gene DOID:9119 acute myeloid leukemia ISO RGD:1553307 D RGD:9068941 20220825 MouseDO OMIM:601626 8987286 Gaa alpha glucosidase gene DOID:0050700 cardiomyopathy ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:25466677|PMID:25741868|PMID:27183828|PMID:28492532|PMID:29149851|PMID:31076647 8987286 Gaa alpha glucosidase gene DOID:0080000 muscular disease ISO RGD:1353184 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:11071489|PMID:14695532|PMID:15986226|PMID:16133732|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:18425781|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24510945|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 8987286 Gaa alpha glucosidase gene DOID:0080600 COVID-19 ISO RGD:1353184 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8987286 Gaa alpha glucosidase gene DOID:0081329 glycogen storage disease I ISO RGD:1353184 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:18425781|PMID:22252923|PMID:27629047|PMID:28492532|PMID:34530085 8987286 Gaa alpha glucosidase gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 PMID:24033266|PMID:25741868|PMID:28492532 8987286 Gaa alpha glucosidase gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1353184 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:25741868 8987286 Gaa alpha glucosidase gene DOID:10976 membranous glomerulonephritis ISO RGD:1353184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15466083 8987286 Gaa alpha glucosidase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22644586|PMID:25741868|PMID:28492532 8987286 Gaa alpha glucosidase gene DOID:12930 dilated cardiomyopathy ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 8987286 Gaa alpha glucosidase gene DOID:2747 glycogen storage disease ISO RGD:1353184 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:17092519|PMID:18458862|PMID:19790257|PMID:19862843|PMID:20202878|PMID:21232767|PMID:21471980|PMID:21757382|PMID:23430493|PMID:23884227|PMID:24033266|PMID:24444888|PMID:25093132|PMID:25213570|PMID:25526786|PMID:25741868|PMID:27099502|PMID:27363342|PMID:28433475|PMID:28492532|PMID:29124014|PMID:29451150|PMID:30275481|PMID:30943998|PMID:31589614|PMID:31931849|PMID:31953985|PMID:31980526|PMID:32126021|PMID:33673364|PMID:34020684|PMID:7981676|PMID:9535769 8987286 Gaa alpha glucosidase gene DOID:2749 glycogen storage disease Ia ISO RGD:1353184 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hepatorenal glycogenosis PMID:18425781|PMID:22252923|PMID:27629047|PMID:28492532|PMID:34530085 8987286 Gaa alpha glucosidase gene DOID:2750 glycogen storage disease IV ISO RGD:1353184 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV PMID:11071489|PMID:14695532|PMID:15986226|PMID:16133732|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:18425781|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24510945|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 8987286 Gaa alpha glucosidase gene DOID:2750 glycogen storage disease IV treatment ISO RGD:1550659 D RGD:9068941 20200609 RGD PMID:27747161|REF_RGD_ID:25671409 8987286 Gaa alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:7240710 20180130 OMIM 8987286 Gaa alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type 2 | ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:10189220|PMID:10206684|PMID:10338092|PMID:10377006|PMID:10528311|PMID:10737124|PMID:11053688|PMID:11071489|PMID:1109266|PMID:11343339|PMID:11738358|PMID:11854846|PMID:11854868|PMID:11927738|PMID:11949932|PMID:12213618|PMID:12601120|PMID:12897283|PMID:12923862|PMID:14643388|PMID:14695532|PMID:14972326|PMID:15048888|PMID:15121988|PMID:15145338|PMID:15366815|PMID:15501829|PMID:15668445|PMID:15986226|PMID:16133732|PMID:16199547|PMID:16433701|PMID:16478160|PMID:1652892|PMID:16531044|PMID:16580018|PMID:16702877|PMID:16782080|PMID:16838077|PMID:16857770|PMID:16860134|PMID:16865695|PMID:16917947|PMID:17027861|PMID:17041744|PMID:17056254|PMID:17092519|PMID:17095274|PMID:17151339|PMID:17210890|PMID:17213836|PMID:17573812|PMID:17576681|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17805474|PMID:17915575|PMID:18211760|PMID:18285536|PMID:18301443|PMID:18414213|PMID:18425781|PMID:18429042|PMID:18434155|PMID:18458862|PMID:18495398|PMID:18505979|PMID:18535739|PMID:1856189|PMID:18607768|PMID:1862843|PMID:18757064|PMID:1895140|PMID:1898413|PMID:18995995|PMID:19067231|PMID:19206169|PMID:19343043|PMID:19472353|PMID:19588081|PMID:19609281|PMID:19775921|PMID:19790257|PMID:19862843|PMID:19948615|PMID:19966354|PMID:20033296|PMID:20080426|PMID:20202878|PMID:20301438|PMID:20308911|PMID:20350966|PMID:20437613|PMID:20464284|PMID:20472203|PMID:20559845|PMID:20638881|PMID:20817528|PMID:20821053|PMID:20826098|PMID:20830524|PMID:21039225|PMID:21109266|PMID:2111708|PMID:21179066|PMID:21216089|PMID:21228398|PMID:21232767|PMID:21439876|PMID:21471980|PMID:21484825|PMID:21488246|PMID:21488291|PMID:21488292|PMID:21550241|PMID:21605996|PMID:21637107|PMID:21644219|PMID:21676566|PMID:21687968|PMID:21704464|PMID:21757382|PMID:21803581|PMID:21889385|PMID:21920843|PMID:21926084|PMID:21940687|PMID:21967859|PMID:21972175|PMID:21982629|PMID:21984055|PMID:22002441|PMID:22027144|PMID:2203258|PMID:22081099|PMID:22133539|PMID:22185990|PMID:22194990|PMID:22196155|PMID:22237443|PMID:22252923|PMID:22253258|PMID:22365055|PMID:22521436|PMID:2252923|PMID:22538254|PMID:22555271|PMID:22595200|PMID:22613277|PMID:22644586|PMID:22658377|PMID:22676651|PMID:22704482|PMID:22711147|PMID:22791670|PMID:22958975|PMID:22975760|PMID:22980766|PMID:22990675|PMID:23000108|PMID:23013746|PMID:23062590|PMID:23146291|PMID:23147228|PMID:23160972|PMID:23266370|PMID:23350563|PMID:23402890|PMID:23417379|PMID:23418865|PMID:23430493|PMID:23430500|PMID:23430560|PMID:23430847|PMID:23430912|PMID:23430949|PMID:23463700|PMID:23566438|PMID:23601496|PMID:23632029|PMID:23632174|PMID:23668440|PMID:23757202|PMID:23787031|PMID:23825616|PMID:23843830|PMID:23884227|PMID:24008051|PMID:24008937|PMID:24011652|PMID:24016645|PMID:24027232|PMID:24033266|PMID:24107549|PMID:24150945|PMID:24158270|PMID:24169249|PMID:24190153|PMID:24215330|PMID:24245577|PMID:24269976|PMID:24273659|PMID:24337590|PMID:24338761|PMID:24383498|PMID:24384324|PMID:24395639|PMID:24399866|PMID:24444888|PMID:24495340|PMID:24510945|PMID:24513544|PMID:24590251|PMID:24627108|PMID:24715333|PMID:24844452|PMID:24872213|PMID:24923245|PMID:24976573|PMID:25026126|PMID:25036864|PMID:25037089|PMID:25052852|PMID:25093132|PMID:2510307|PMID:25103075|PMID:25139343|PMID:25155446|PMID:25213570|PMID:25243733|PMID:25326635|PMID:25356970|PMID:25388776|PMID:25396301|PMID:25409744|PMID:25444528|PMID:25451853|PMID:25455803|PMID:25466677|PMID:25488666|PMID:25525159|PMID:25526786|PMID:25544546|PMID:25612604|PMID:25614309|PMID:25626711|PMID:25673129|PMID:25681614|PMID:25687148|PMID:25687635|PMID:25703594|PMID:25712382|PMID:25741864|PMID:25741868|PMID:25752415|PMID:25758767|PMID:25783438|PMID:25786784|PMID:25846667|PMID:25973016|PMID:25998610|PMID:26031770|PMID:26160551|PMID:26167453|PMID:26199952|PMID:26231297|PMID:26253708|PMID:26310554|PMID:26349193|PMID:26350092|PMID:26467025|PMID:26497565|PMID:26572913|PMID:26575883|PMID:26594346|PMID:26693141|PMID:26800218|PMID:26830551|PMID:26873529|PMID:26913919|PMID:26946079|PMID:27008195|PMID:27099502|PMID:27142047|PMID:27170567 8987286 Gaa alpha glucosidase gene DOID:2752 glycogen storage disease II ISO RGD:1353184 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type 2 | ClinVar Annotator: match by term: Glycogen storage disease type II, infantile | ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:27183828|PMID:27189384|PMID:27238910|PMID:27344650|PMID:27363342|PMID:27417441|PMID:27460347|PMID:27623443|PMID:27629047|PMID:27649523|PMID:27666774|PMID:27692865|PMID:27708273|PMID:27711114|PMID:27858635|PMID:27896092|PMID:27927596|PMID:28032299|PMID:28182897|PMID:28196920|PMID:28394184|PMID:28433475|PMID:28450385|PMID:28490439|PMID:28492532|PMID:28554557|PMID:28592009|PMID:28600779|PMID:28624228|PMID:28648663|PMID:28657663|PMID:28694071|PMID:28725570|PMID:28763149|PMID:28814660|PMID:28838325|PMID:28900456|PMID:28951071|PMID:28957316|PMID:29044175|PMID:29046207|PMID:29061980|PMID:29122469|PMID:29124014|PMID:29143201|PMID:29149851|PMID:29181627|PMID:29205646|PMID:29289479|PMID:29315315|PMID:29325298|PMID:29326002|PMID:29390460|PMID:29422078|PMID:29428273|PMID:29451150|PMID:29523196|PMID:29556838|PMID:29573408|PMID:29637184|PMID:29653542|PMID:29869463|PMID:29880332|PMID:29889338|PMID:29946513|PMID:30022036|PMID:30023291|PMID:30049495|PMID:30076350|PMID:30093193|PMID:30105547|PMID:30155607|PMID:30214072|PMID:30275481|PMID:30281819|PMID:30293248|PMID:30314719|PMID:30360039|PMID:30371346|PMID:30414707|PMID:30442156|PMID:3049072|PMID:30510819|PMID:30564623|PMID:30655185|PMID:30711607|PMID:30737479|PMID:30778879|PMID:30827497|PMID:30897595|PMID:30943998|PMID:31057599|PMID:31076647|PMID:31086307|PMID:31130284|PMID:31193175|PMID:31228295|PMID:31254424|PMID:31301153|PMID:31342611|PMID:31392188|PMID:31392193|PMID:31395954|PMID:31439017|PMID:31467850|PMID:31510962|PMID:31589614|PMID:31606152|PMID:31619483|PMID:31637888|PMID:31676142|PMID:31710733|PMID:31729605|PMID:31743840|PMID:31847883|PMID:31875618|PMID:31899940|PMID:31904026|PMID:31915562|PMID:31931849|PMID:31953985|PMID:31965297|PMID:31980526|PMID:32012848|PMID:32014045|PMID:32064362|PMID:32071926|PMID:32125626|PMID:32126021|PMID:32248831|PMID:32317649|PMID:32373469|PMID:32504392|PMID:32518148|PMID:32528171|PMID:32711049|PMID:32721234|PMID:32802993|PMID:32821428|PMID:32860008|PMID:32888769|PMID:33013846|PMID:33073003|PMID:33073007|PMID:33073009|PMID:33073027|PMID:33168984|PMID:33202836|PMID:33250842|PMID:33301762|PMID:33393119|PMID:33552729|PMID:33560568|PMID:33673364|PMID:33717985|PMID:33741225|PMID:33972680|PMID:33996274|PMID:34020684|PMID:34220802|PMID:34426522|PMID:34501319|PMID:34530085|PMID:34539730|PMID:34602496|PMID:34639227|PMID:34647686|PMID:34852371|PMID:34864681|PMID:34906502|PMID:34995642|PMID:35123877|PMID:35532199|PMID:36246652|PMID:36310651|PMID:37087815|PMID:5614309|PMID:7603530|PMID:7668832|PMID:7695647|PMID:7717400|PMID:7866409|PMID:7881422|PMID:7881425|PMID:7945303|PMID:7981676|PMID:8094613|PMID:8401535|PMID:8429042|PMID:8435067|PMID:8558570|PMID:8604985|PMID:8834250|PMID:8912788|PMID:8935410|PMID:8990003|PMID:9196050|PMID:9259196|PMID:9266392|PMID:9425285|PMID:9521422|PMID:9529346|PMID:9535769|PMID:9536098|PMID:9554747|PMID:9660056|PMID:9950376 8987286 Gaa alpha glucosidase gene DOID:2843 long QT syndrome ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 8987286 Gaa alpha glucosidase gene DOID:423 myopathy ISO RGD:1353184 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Myopathy PMID:11071489|PMID:14695532|PMID:15986226|PMID:16133732|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:18425781|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24510945|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 8987286 Gaa alpha glucosidase gene DOID:630 genetic disease ISO RGD:1353184 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11071489|PMID:12213618|PMID:14695532|PMID:15986226|PMID:16133732|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:18425781|PMID:18607768|PMID:19588081|PMID:19862843|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21484825|PMID:21550241|PMID:21967859|PMID:22252923|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24510945|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28196920|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 8987286 Gaa alpha glucosidase gene DOID:9000184 Ventricular Fibrillation ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532|PMID:29149851 8987286 Gaa alpha glucosidase gene DOID:9001828 Cardiac Form of Generalized Glycogenosis ISO RGD:1353184 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa | ClinVar Annotator: match by term: GLYCOGENOSIS, GENERALIZED, CARDIAC FORM PMID:10338092|PMID:11071489|PMID:14643388|PMID:14695532|PMID:15986226|PMID:16133732|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16838077|PMID:16917947|PMID:17027861|PMID:17210890|PMID:17576681|PMID:17616415|PMID:17643989|PMID:17723315|PMID:17805474|PMID:18301443|PMID:18414213|PMID:18425781|PMID:18458862|PMID:18607768|PMID:19588081|PMID:19862843|PMID:20080426|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21039225|PMID:21109266|PMID:2111708|PMID:21228398|PMID:21232767|PMID:21439876|PMID:21471980|PMID:21550241|PMID:21757382|PMID:21967859|PMID:2203258|PMID:22194990|PMID:22252923|PMID:22595200|PMID:22613277|PMID:22644586|PMID:22676651|PMID:22975760|PMID:22980766|PMID:22990675|PMID:23000108|PMID:23417379|PMID:23430949|PMID:23668440|PMID:23757202|PMID:24008051|PMID:24008937|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24269976|PMID:24444888|PMID:24510945|PMID:24590251|PMID:24627108|PMID:24715333|PMID:24844452|PMID:25052852|PMID:2510307|PMID:25103075|PMID:25213570|PMID:25243733|PMID:25356970|PMID:25444528|PMID:25466677|PMID:25525159|PMID:25526786|PMID:25626711|PMID:25681614|PMID:25741868|PMID:25846667|PMID:25998610|PMID:26231297|PMID:26467025|PMID:26800218|PMID:26946079|PMID:27170567|PMID:27183828|PMID:27189384|PMID:27363342|PMID:27460347|PMID:27623443|PMID:27629047|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28196920|PMID:28492532|PMID:28624228|PMID:28694071|PMID:28725570|PMID:28951071|PMID:29124014|PMID:29149851|PMID:29181627|PMID:29326002|PMID:29451150|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31076647|PMID:31086307|PMID:31342611|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:33073003|PMID:33073007|PMID:33202836|PMID:33250842|PMID:33741225|PMID:34530085|PMID:34539730|PMID:34906502|PMID:36310651|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8401535|PMID:8558570|PMID:8912788|PMID:8990003|PMID:9266392|PMID:9425285|PMID:9521422|PMID:9536098 8987286 Gaa alpha glucosidase gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1353184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328962 8987286 Gaa alpha glucosidase gene DOID:9006475 Glycoprotein Storage Disease ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycoprotein storage disease PMID:19588081|PMID:22644586|PMID:24444888|PMID:25526786|PMID:25741868|PMID:28492532|PMID:30155607|PMID:30564623 8987286 Gaa alpha glucosidase gene DOID:9007039 Ventricular Dysfunction ISO RGD:1353184 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11328962 8987286 Gaa alpha glucosidase gene DOID:9007811 Familial Cirrhosis with Deposition of Abnormal Glycogen ISO RGD:1353184 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen PMID:11071489|PMID:14695532|PMID:15986226|PMID:16133732|PMID:16433701|PMID:16531044|PMID:16702877|PMID:16917947|PMID:17210890|PMID:17616415|PMID:17643989|PMID:17723315|PMID:18425781|PMID:18607768|PMID:19588081|PMID:20301438|PMID:20350966|PMID:20559845|PMID:21109266|PMID:21228398|PMID:21439876|PMID:21550241|PMID:21967859|PMID:22595200|PMID:22613277|PMID:22676651|PMID:22975760|PMID:23417379|PMID:24008051|PMID:24033266|PMID:24150945|PMID:24158270|PMID:24245577|PMID:24510945|PMID:24590251|PMID:24844452|PMID:2510307|PMID:25103075|PMID:25356970|PMID:25741868|PMID:25846667|PMID:26231297|PMID:26800218|PMID:27170567|PMID:27189384|PMID:27460347|PMID:27649523|PMID:27708273|PMID:28032299|PMID:28492532|PMID:28694071|PMID:28951071|PMID:29181627|PMID:29326002|PMID:30275481|PMID:30314719|PMID:30564623|PMID:30655185|PMID:30827497|PMID:31086307|PMID:31676142|PMID:31980526|PMID:32071926|PMID:32528171|PMID:32721234|PMID:32860008|PMID:34906502|PMID:7668832|PMID:7717400|PMID:7881425|PMID:8558570|PMID:8990003 8987286 Gaa alpha glucosidase gene DOID:9212 pityriasis rubra pilaris ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 8987286 Gaa alpha glucosidase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1353184 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 8987286 Gaa alpha glucosidase gene DOID:9884 muscular dystrophy ISO RGD:1353184 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Muscular dystrophy 8987314 Enpep glutamyl aminopeptidase gene DOID:630 genetic disease ISO RGD:732266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987314 Enpep glutamyl aminopeptidase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8987314 Enpep glutamyl aminopeptidase gene DOID:9002165 Diabetic Nephropathies ISO RGD:732266 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:28468961 8987339 Acadl acyl-CoA dehydrogenase long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency 8987339 Acadl acyl-CoA dehydrogenase long chain gene DOID:14557 primary pulmonary hypertension ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8987339 Acadl acyl-CoA dehydrogenase long chain gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8987339 Acadl acyl-CoA dehydrogenase long chain gene DOID:630 genetic disease ISO RGD:733759 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8987339 Acadl acyl-CoA dehydrogenase long chain gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long chain acyl-CoA dehydrogenase deficiency PMID:25741868 8987339 Acadl acyl-CoA dehydrogenase long chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1320598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:25741868 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:0110347 osteogenesis imperfecta type 15 ISO RGD:1320598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 PMID:25741868 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532|PMID:31680123 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:1389 polyneuropathy ISO RGD:1320598 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyneuropathy PMID:25741868 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:2747 glycogen storage disease ISO RGD:1320598 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Glycogen storage disease PMID:15452297|PMID:16199547|PMID:17662246|PMID:19813197|PMID:20058079|PMID:23218673|PMID:23352160|PMID:24033266|PMID:25489661|PMID:25741868|PMID:26166723|PMID:26886200|PMID:28492532|PMID:28507268|PMID:29379554|PMID:30569318|PMID:31980526 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:2750 glycogen storage disease IV ISO RGD:1320598 D RGD:7240710 20180130 OMIM 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:2750 glycogen storage disease IV ISO RGD:1320598 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glycogen storage disease due to glycogen branching enzyme deficiency | ClinVar Annotator: match by term: Glycogen storage disease, type IV PMID:10384399|PMID:10545044|PMID:10762170|PMID:11949934|PMID:12874416|PMID:12913206|PMID:15019703|PMID:15452297|PMID:15520786|PMID:16199547|PMID:16278887|PMID:16528737|PMID:16874838|PMID:17576681|PMID:17662246|PMID:17915577|PMID:17994551|PMID:18230843|PMID:18661138|PMID:19438752|PMID:19763152|PMID:19813197|PMID:20058079|PMID:20301758|PMID:20307669|PMID:20479904|PMID:20532556|PMID:20655781|PMID:21075835|PMID:21917543|PMID:22106711|PMID:22305237|PMID:22406018|PMID:22899091|PMID:23014386|PMID:23034915|PMID:23218673|PMID:23266647|PMID:23352160|PMID:23607684|PMID:24033266|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25489661|PMID:25525159|PMID:25544507|PMID:25640679|PMID:25665141|PMID:25728520|PMID:25741868|PMID:26147564|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26670585|PMID:26752647|PMID:26789422|PMID:26886200|PMID:27107456|PMID:27243974|PMID:27528516|PMID:27546458|PMID:27747161|PMID:28265589|PMID:28492532|PMID:28507268|PMID:28716262|PMID:28973083|PMID:29379554|PMID:30228975|PMID:30293248|PMID:30303820|PMID:30311141|PMID:30345254|PMID:30569318|PMID:31127727|PMID:31207142|PMID:31209396|PMID:31319225|PMID:31589614|PMID:31680123|PMID:31747834|PMID:31974414|PMID:31980526|PMID:32455116|PMID:32617483|PMID:33060286|PMID:33141444|PMID:33332610|PMID:33344388|PMID:33517539|PMID:33726816|PMID:33782433|PMID:33897756|PMID:34426522|PMID:34906519|PMID:34946936|PMID:34999962|PMID:36628840|PMID:8059607|PMID:8247964|PMID:8613547|PMID:9536098|PMID:9851430 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1320598 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs2307058 (human) PMID:28355295|REF_RGD_ID:18337291 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:630 genetic disease ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10762170|PMID:11949934|PMID:20058079|PMID:20301758|PMID:24248152|PMID:25356970|PMID:25728520|PMID:25741868|PMID:26147564|PMID:26199317|PMID:28492532|PMID:33782433|PMID:8613547 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9000820 GSD IV, Classic Hepatic ISO RGD:1320598 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GSD IV, CLASSIC HEPATIC PMID:10384399|PMID:10762170|PMID:11949934|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:17662246|PMID:20058079|PMID:20301758|PMID:20655781|PMID:22106711|PMID:22305237|PMID:23034915|PMID:23607684|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25525159|PMID:25665141|PMID:25741868|PMID:26147564|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26789422|PMID:26886200|PMID:27243974|PMID:27546458|PMID:27747161|PMID:28265589|PMID:28492532|PMID:29379554|PMID:30228975|PMID:31589614|PMID:32455116|PMID:33060286|PMID:33141444|PMID:33332610|PMID:34426522|PMID:34946936|PMID:36628840|PMID:8059607|PMID:8247964|PMID:8613547|PMID:9536098|PMID:9851430 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9001038 GSD IV, Neuromuscular Form, Congenital ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CONGENITAL PMID:15019703|PMID:15452297|PMID:16528737|PMID:17576681|PMID:17662246|PMID:17915577|PMID:20058079|PMID:22305237|PMID:25741868|PMID:26199317|PMID:27546458|PMID:28492532|PMID:29379554|PMID:30228975|PMID:31589614|PMID:33060286|PMID:33141444|PMID:8059607|PMID:8613547|PMID:9536098 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9001655 GSD IV, Neuromuscular Form, Childhood ISO RGD:1320598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CHILDHOOD PMID:15452297|PMID:20058079|PMID:25525159|PMID:25741868|PMID:26166723|PMID:26886200|PMID:27243974|PMID:28492532|PMID:33332610|PMID:8613547 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9006655 GSD IV, Neuromuscular Form, Fatal Perinatal ISO RGD:1320598 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Gsd IV, neuromuscular form, fatal perinatal PMID:10384399|PMID:15452297|PMID:16199547|PMID:20058079|PMID:25741868|PMID:28492532|PMID:8247964 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9006915 GSD IV, combined hepatic and myopathic ISO RGD:1320598 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IV, combined hepatic and myopathic PMID:10545044|PMID:10762170|PMID:12874416|PMID:15452297|PMID:20301758|PMID:20479904|PMID:25741868|PMID:28492532|PMID:31127727|PMID:33332610|PMID:33726816 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9007497 Polyglucosan Body Disease, Adult Form ISO RGD:1320598 D RGD:7240710 20180130 OMIM 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9007497 Polyglucosan Body Disease, Adult Form ISO RGD:1320598 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Adult polyglucosan body disease | ClinVar Annotator: match by term: Adult polyglucosan body neuropathy | ClinVar Annotator: match by term: Polyglucosan body disease, adult form PMID:10545044|PMID:10762170|PMID:11949934|PMID:12874416|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:17662246|PMID:19813197|PMID:20058079|PMID:20301758|PMID:20479904|PMID:20655781|PMID:22106711|PMID:23034915|PMID:23218673|PMID:23266647|PMID:23352160|PMID:23607684|PMID:24033266|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25489661|PMID:25525159|PMID:25665141|PMID:25741868|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26670585|PMID:26789422|PMID:26886200|PMID:27107456|PMID:27243974|PMID:27528516|PMID:27747161|PMID:28265589|PMID:28492532|PMID:28507268|PMID:28716262|PMID:29379554|PMID:30228975|PMID:30293248|PMID:30569318|PMID:31127727|PMID:31207142|PMID:31209396|PMID:31319225|PMID:31680123|PMID:31980526|PMID:32455116|PMID:33141444|PMID:33332610|PMID:33726816|PMID:33782433|PMID:34426522|PMID:34946936|PMID:34999962|PMID:36628840|PMID:8613547|PMID:9536098|PMID:9851430 8987364 Gbe1 1,4-alpha-glucan branching enzyme 1 gene DOID:9007811 Familial Cirrhosis with Deposition of Abnormal Glycogen ISO RGD:1320598 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen PMID:10384399|PMID:10762170|PMID:11949934|PMID:15019703|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:17662246|PMID:20058079|PMID:20301758|PMID:20655781|PMID:22106711|PMID:22305237|PMID:23034915|PMID:23607684|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25525159|PMID:25665141|PMID:25741868|PMID:26147564|PMID:26166723|PMID:26199317|PMID:26385640|PMID:26789422|PMID:26886200|PMID:27243974|PMID:27546458|PMID:27747161|PMID:28265589|PMID:28492532|PMID:29379554|PMID:30228975|PMID:31589614|PMID:32455116|PMID:33060286|PMID:33141444|PMID:33332610|PMID:33897756|PMID:34426522|PMID:34946936|PMID:36628840|PMID:8059607|PMID:8247964|PMID:8613547|PMID:9536098|PMID:9851430 8987388 Jam3 junctional adhesion molecule 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1346212 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8987388 Jam3 junctional adhesion molecule 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8987388 Jam3 junctional adhesion molecule 3 gene DOID:11446 sciatic neuropathy ISO RGD:1303248 D RGD:9068941 20200609 RGD PMID:22950044|REF_RGD_ID:7488944 8987388 Jam3 junctional adhesion molecule 3 gene DOID:3042 allergic contact dermatitis ISO RGD:1551450 D RGD:9068941 20200609 RGD PMID:16297198|REF_RGD_ID:7488919 8987388 Jam3 junctional adhesion molecule 3 gene DOID:418 systemic scleroderma ISO RGD:1346212 D RGD:9068941 20200609 RGD protein:decreased expression:skin, endothelial cell PMID:19439502|REF_RGD_ID:7488937 8987388 Jam3 junctional adhesion molecule 3 gene DOID:418 systemic scleroderma ISO RGD:1346212 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:23001478|REF_RGD_ID:7488920 8987388 Jam3 junctional adhesion molecule 3 gene DOID:5419 schizophrenia ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8987388 Jam3 junctional adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1346212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8987388 Jam3 junctional adhesion molecule 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1551450 D RGD:9068941 20200609 RGD PMID:22323465|REF_RGD_ID:7488935 8987388 Jam3 junctional adhesion molecule 3 gene DOID:9002502 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts ISO RGD:1346212 D RGD:7240710 20180130 OMIM 8987388 Jam3 junctional adhesion molecule 3 gene DOID:9002502 Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts PMID:21109224|PMID:23255084|PMID:25741868|PMID:25741869|PMID:28492532|PMID:32860008 8987388 Jam3 junctional adhesion molecule 3 gene DOID:9003690 Carcinoma, Lewis Lung ISO RGD:1551450 D RGD:9068941 20200609 RGD PMID:15994945|REF_RGD_ID:7488936 8987388 Jam3 junctional adhesion molecule 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8987388 Jam3 junctional adhesion molecule 3 gene DOID:9004345 Isobutyryl-CoA Dehydrogenase Deficiency ISO RGD:1346212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase PMID:16857760|PMID:21109224|PMID:23255084|PMID:28492532 8987388 Jam3 junctional adhesion molecule 3 gene DOID:9007748 Retinal Neovascularization ISO RGD:1551450 D RGD:9068941 20200609 RGD PMID:15994945|REF_RGD_ID:7488936 8987417 Asb18 ankyrin repeat and SOCS box containing 18 gene DOID:630 genetic disease ISO RGD:1602398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987417 Asb18 ankyrin repeat and SOCS box containing 18 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1602398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 8987439 Grk1 G protein-coupled receptor kinase 1 gene DOID:0050534 congenital stationary night blindness ISO RGD:1345543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:30718709 8987439 Grk1 G protein-coupled receptor kinase 1 gene DOID:0110713 Oguchi disease-2 ISO RGD:1345543 D RGD:7240710 20180808 OMIM 8987439 Grk1 G protein-coupled receptor kinase 1 gene DOID:0110713 Oguchi disease-2 ISO RGD:1345543 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Oguchi disease-2 PMID:16319817|PMID:17070587|PMID:17765441|PMID:19753316|PMID:22959359|PMID:25741868|PMID:26349155|PMID:27511724|PMID:28418496|PMID:28511019|PMID:30718709|PMID:9020843|PMID:9419375 8987439 Grk1 G protein-coupled receptor kinase 1 gene DOID:2222 factor X deficiency ISO RGD:1345543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8987439 Grk1 G protein-coupled receptor kinase 1 gene DOID:5679 retinal disease ISO RGD:619712 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina PMID:10549637|REF_RGD_ID:1600004 8987439 Grk1 G protein-coupled receptor kinase 1 gene DOID:6000 congestive heart failure ISO RGD:619712 D RGD:9068941 20200609 RGD PMID:12456492|REF_RGD_ID:1600002 8987439 Grk1 G protein-coupled receptor kinase 1 gene DOID:630 genetic disease ISO RGD:1345543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987439 Grk1 G protein-coupled receptor kinase 1 gene DOID:8498 hereditary night blindness ISO RGD:1345543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oguchi disease PMID:25741868 8987439 Grk1 G protein-coupled receptor kinase 1 gene DOID:8499 night blindness ISO RGD:1345543 D RGD:9068941 20200609 RGD DNA:deletions, missense mutation, frameshift mutation PMID:9020843|REF_RGD_ID:1600000 8987439 Grk1 G protein-coupled receptor kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619712 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:15939031|REF_RGD_ID:1600001 8987439 Grk1 G protein-coupled receptor kinase 1 gene DOID:9005968 Neuralgia ISO RGD:1345543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 8987458 LOC102005965 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1342599 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:26943237|REF_RGD_ID:11572212 8987458 LOC102005965 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1342599 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex PMID:11130185|REF_RGD_ID:13831335 8987458 LOC102005965 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1342599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8987458 LOC102005965 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:630 genetic disease ISO RGD:1342599 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8987458 LOC102005965 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:9000233 PARKINSONISM WITH POLYNEUROPATHY ISO RGD:1342599 D RGD:7240710 20210519 OMIM 8987458 LOC102005965 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:9000233 PARKINSONISM WITH POLYNEUROPATHY ISO RGD:1342599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism with polyneuropathy PMID:25741868|PMID:33141179 8987458 LOC102005965 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8987458 LOC102005965 cytochrome b-c1 complex subunit 1, mitochondrial gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1342599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8987484 Slc15a5 solute carrier family 15 member 5 gene DOID:630 genetic disease ISO RGD:2302456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987495 Dbndd2 dysbindin domain containing 2 gene DOID:2234 focal epilepsy ISO RGD:1313063 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8987495 Dbndd2 dysbindin domain containing 2 gene DOID:630 genetic disease ISO RGD:1313063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987495 Dbndd2 dysbindin domain containing 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8987495 Dbndd2 dysbindin domain containing 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8987502 R3hdm1 R3H domain containing 1 gene DOID:0060591 WHIM syndrome 1 ISO RGD:1316725 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 8987502 R3hdm1 R3H domain containing 1 gene DOID:630 genetic disease ISO RGD:1316725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987533 Ybx2 Y-box binding protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8987533 Ybx2 Y-box binding protein 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606288 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8987533 Ybx2 Y-box binding protein 2 gene DOID:1059 intellectual disability ISO RGD:1606288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8987533 Ybx2 Y-box binding protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1606288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8987533 Ybx2 Y-box binding protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1606288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8987533 Ybx2 Y-box binding protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8987533 Ybx2 Y-box binding protein 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8987533 Ybx2 Y-box binding protein 2 gene DOID:630 genetic disease ISO RGD:1606288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987547 Casp8ap2 caspase 8 associated protein 2 gene DOID:630 genetic disease ISO RGD:1314005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987565 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:1540 parathyroid carcinoma ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8987565 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:3755 antithrombin III deficiency ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 8987565 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:630 genetic disease ISO RGD:1352612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987565 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 8987565 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:869 cholesteatoma ISO RGD:1352612 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 8987565 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 8987565 Zbtb37 zinc finger and BTB domain containing 37 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8987587 Uros uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria ISO RGD:1321278 D RGD:7240710 20180130 OMIM 8987587 Uros uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria ISO RGD:1321278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital erythropoietic porphyria | ClinVar Annotator: match by term: Cutaneous porphyria PMID:11254675|PMID:12060141|PMID:15065102|PMID:15304101|PMID:16365260|PMID:16532394|PMID:1733834|PMID:1737856|PMID:19099412|PMID:19965637|PMID:21343304|PMID:21365124|PMID:21570665|PMID:21631301|PMID:22816431|PMID:2331520|PMID:23557135|PMID:23626549|PMID:25092523|PMID:25741868|PMID:27859603|PMID:28492532|PMID:30685241|PMID:30706587|PMID:31843562|PMID:34828434|PMID:7616657|PMID:7860775|PMID:8821859|PMID:8829650|PMID:8946173|PMID:9188670|PMID:9803266|PMID:9834209 8987587 Uros uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria susceptibility ISO RGD:1310396 D RGD:9068941 20200609 RGD DNA:missense mutations,SNP,deletion:cds,introns:multiple PMID:30454868|REF_RGD_ID:18937001 8987587 Uros uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria susceptibility ISO RGD:1321278 D RGD:9068941 20200609 RGD DNA:missense mutations,SNP,deletion:cds,introns:multiple PMID:30454868|REF_RGD_ID:18937001 8987587 Uros uroporphyrinogen III synthase gene DOID:13271 cutaneous porphyria susceptibility ISO RGD:1321279 D RGD:9068941 20200609 RGD DNA:missense mutations,SNP,deletion:cds,introns:multiple PMID:30454868|REF_RGD_ID:18937001 8987587 Uros uroporphyrinogen III synthase gene DOID:630 genetic disease ISO RGD:1321278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987617 Seh1l SEH1 like nucleoporin gene DOID:0050591 tooth agenesis ISO RGD:1352568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 8987617 Seh1l SEH1 like nucleoporin gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1352568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8987617 Seh1l SEH1 like nucleoporin gene DOID:1059 intellectual disability ISO RGD:1352568 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8987617 Seh1l SEH1 like nucleoporin gene DOID:630 genetic disease ISO RGD:1352568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987629 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:10652 Alzheimer's disease ISO RGD:1348251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30320580 8987629 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:5408 Paget's disease of bone ISO RGD:1551628 D RGD:9068941 20220825 MouseDO OMIM:167250 | OMIM:602080 | OMIM:606263 8987629 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:627 severe combined immunodeficiency ISO RGD:1348251 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25741868 8987629 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:630 genetic disease ISO RGD:1348251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987629 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8987629 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:9004009 Reperfusion Injury ISO RGD:1348251 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25780291 8987629 Inpp5d inositol polyphosphate-5-phosphatase D gene DOID:9074 systemic lupus erythematosus ISO RGD:1551628 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 8987674 Eda2r ectodysplasin A2 receptor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8987674 Eda2r ectodysplasin A2 receptor gene DOID:0111664 ectodermal dysplasia 1 ISO RGD:1344270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia PMID:22889853 8987674 Eda2r ectodysplasin A2 receptor gene DOID:12849 autistic disorder ISO RGD:1344270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8987674 Eda2r ectodysplasin A2 receptor gene DOID:630 genetic disease ISO RGD:1344270 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987687 Mad2l1bp MAD2L1 binding protein gene DOID:0050444 infantile Refsum disease ISO RGD:1319368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8987687 Mad2l1bp MAD2L1 binding protein gene DOID:630 genetic disease ISO RGD:1319368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987687 Mad2l1bp MAD2L1 binding protein gene DOID:905 Zellweger syndrome ISO RGD:1319368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 8987697 Procr protein C receptor gene DOID:12365 malaria disease_progression ISO RGD:1314349 D RGD:9068941 20210507 RGD PMID:27671831|REF_RGD_ID:126848795 8987697 Procr protein C receptor gene DOID:13001 carotid stenosis ISO RGD:1305991 D RGD:9068941 20200609 RGD associated with Neointima PMID:21903947|REF_RGD_ID:13515129 8987697 Procr protein C receptor gene DOID:2843 long QT syndrome ISO RGD:1314349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 8987697 Procr protein C receptor gene DOID:3021 acute kidney failure treatment ISO RGD:1305991 D RGD:9068941 20200609 RGD associated with Sepsis PMID:23807243|REF_RGD_ID:10755583 8987697 Procr protein C receptor gene DOID:3393 coronary artery disease ISO RGD:1314349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530674 8987697 Procr protein C receptor gene DOID:630 genetic disease ISO RGD:1314349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987697 Procr protein C receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1305991 D RGD:9068941 20200609 RGD PMID:27771530|REF_RGD_ID:13515125 8987697 Procr protein C receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1314350 D RGD:9068941 20200609 RGD PMID:27771530|REF_RGD_ID:13515125 8987697 Procr protein C receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8987697 Procr protein C receptor gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1305991 D RGD:9068941 20200609 RGD PMID:20095324|REF_RGD_ID:13515130 8987697 Procr protein C receptor gene DOID:9005372 Inflammation ISO RGD:1314349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23774263 8987697 Procr protein C receptor gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1305991 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:25688263|REF_RGD_ID:13515127 8987697 Procr protein C receptor gene DOID:9007558 Acute Experimental Pancreatitis treatment ISO RGD:1305991 D RGD:9068941 20200609 RGD PMID:24749346|REF_RGD_ID:13515128 8987697 Procr protein C receptor gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1305991 D RGD:9068941 20200609 RGD PMID:26994471|REF_RGD_ID:13515126 8987737 Pigz phosphatidylinositol glycan anchor biosynthesis class Z gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1602097 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 8987737 Pigz phosphatidylinositol glycan anchor biosynthesis class Z gene DOID:12849 autistic disorder ISO RGD:1602097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8987737 Pigz phosphatidylinositol glycan anchor biosynthesis class Z gene DOID:5419 schizophrenia ISO RGD:1602097 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8987737 Pigz phosphatidylinositol glycan anchor biosynthesis class Z gene DOID:630 genetic disease ISO RGD:1602097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987757 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:0080490 mucolipidosis type IV ISO RGD:734087 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8987757 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:734087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 8987757 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:13207 proliferative diabetic retinopathy ISO RGD:734087 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:22003103|REF_RGD_ID:13463597 8987757 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:630 genetic disease ISO RGD:734087 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987757 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:8947 diabetic retinopathy ISO RGD:3864 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina PMID:22003103|REF_RGD_ID:13463597 8987757 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:9002514 Neointima treatment ISO RGD:737090 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:16186389|REF_RGD_ID:13463598 8987757 Timm44 translocase of inner mitochondrial membrane 44 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3864 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:23255365|REF_RGD_ID:13463486 8987781 Dhrs1 dehydrogenase/reductase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352104 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8987781 Dhrs1 dehydrogenase/reductase 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1352104 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8987781 Dhrs1 dehydrogenase/reductase 1 gene DOID:630 genetic disease ISO RGD:1352104 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987781 Dhrs1 dehydrogenase/reductase 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1352104 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8987781 Dhrs1 dehydrogenase/reductase 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1352104 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8987798 Nosip nitric oxide synthase interacting protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1320636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8987798 Nosip nitric oxide synthase interacting protein gene DOID:4621 holoprosencephaly ISO RGD:1320637 D RGD:9068941 20220825 MouseDO 8987798 Nosip nitric oxide synthase interacting protein gene DOID:630 genetic disease ISO RGD:1320636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987814 Tas2r16 taste 2 receptor member 16 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1343606 D RGD:7240710 20240320 OMIM 8987814 Tas2r16 taste 2 receptor member 16 gene DOID:1574 alcohol use disorder ISO RGD:1343606 D RGD:9068941 20231026 CTD CTD Direct Evidence: marker/mechanism PMID:16385453|PMID:17250611 8987814 Tas2r16 taste 2 receptor member 16 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8987814 Tas2r16 taste 2 receptor member 16 gene DOID:630 genetic disease ISO RGD:1343606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987817 Lrrc41 leucine rich repeat containing 41 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1607070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma 8987817 Lrrc41 leucine rich repeat containing 41 gene DOID:5426 primary ovarian insufficiency ISO RGD:1607070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8987817 Lrrc41 leucine rich repeat containing 41 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1607070 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8987817 Lrrc41 leucine rich repeat containing 41 gene DOID:630 genetic disease ISO RGD:1607070 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8987817 Lrrc41 leucine rich repeat containing 41 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1607070 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 8987835 Tmem125 transmembrane protein 125 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8987835 Tmem125 transmembrane protein 125 gene DOID:630 genetic disease ISO RGD:1604757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987885 Pkp3 plakophilin 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1319304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8987885 Pkp3 plakophilin 3 gene DOID:0111969 immunodeficiency 39 ISO RGD:1319304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 8987885 Pkp3 plakophilin 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1319304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8987885 Pkp3 plakophilin 3 gene DOID:1227 neutropenia ISO RGD:1319304 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 8987885 Pkp3 plakophilin 3 gene DOID:630 genetic disease ISO RGD:1319304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8987885 Pkp3 plakophilin 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8987903 Hdac6 histone deacetylase 6 gene DOID:0050439 Usher syndrome ISO RGD:1351463 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868 8987903 Hdac6 histone deacetylase 6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8987903 Hdac6 histone deacetylase 6 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8987903 Hdac6 histone deacetylase 6 gene DOID:0080322 polycystic kidney disease treatment ISO RGD:619981 D RGD:9068941 20200609 RGD PMID:24434010|REF_RGD_ID:9681551 8987903 Hdac6 histone deacetylase 6 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8987903 Hdac6 histone deacetylase 6 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8987903 Hdac6 histone deacetylase 6 gene DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ISO RGD:1351463 D RGD:7240710 20180130 OMIM 8987903 Hdac6 histone deacetylase 6 gene DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type PMID:16001442|PMID:20181727|PMID:25741868|PMID:28492532 8987903 Hdac6 histone deacetylase 6 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8987903 Hdac6 histone deacetylase 6 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8987903 Hdac6 histone deacetylase 6 gene DOID:10763 hypertension ISO RGD:619981 D RGD:9068941 20200609 RGD protein:increased expression, activity:heart: PMID:23868068|REF_RGD_ID:9681716 8987903 Hdac6 histone deacetylase 6 gene DOID:12849 autistic disorder ISO RGD:1351463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8987903 Hdac6 histone deacetylase 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:1351463 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35764897 8987903 Hdac6 histone deacetylase 6 gene DOID:1909 melanoma ISO RGD:1351463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8987903 Hdac6 histone deacetylase 6 gene DOID:3347 osteosarcoma ISO RGD:1351463 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 8987903 Hdac6 histone deacetylase 6 gene DOID:4947 cholangiocarcinoma ISO RGD:1351463 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:23370327|REF_RGD_ID:9681560 8987903 Hdac6 histone deacetylase 6 gene DOID:630 genetic disease ISO RGD:1351463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8987903 Hdac6 histone deacetylase 6 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1351463 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 8987903 Hdac6 histone deacetylase 6 gene DOID:9000918 Disease Progression ISO RGD:1351463 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 8987903 Hdac6 histone deacetylase 6 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1351463 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:24434010|REF_RGD_ID:9681551 8987903 Hdac6 histone deacetylase 6 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:619981 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cholangiocytee,liver: PMID:24434010|REF_RGD_ID:9681551 8987903 Hdac6 histone deacetylase 6 gene DOID:9001771 Polycystic Liver Disease 1 treatment ISO RGD:619981 D RGD:9068941 20200609 RGD PMID:24434010|REF_RGD_ID:9681551 8987903 Hdac6 histone deacetylase 6 gene DOID:9002170 Experimental Neoplasms ISO RGD:1351463 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 8987903 Hdac6 histone deacetylase 6 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 8987903 Hdac6 histone deacetylase 6 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:1552302 D RGD:9068941 20200609 RGD PMID:23541634|REF_RGD_ID:9681550 8987903 Hdac6 histone deacetylase 6 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1351463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19010849 8987903 Hdac6 histone deacetylase 6 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1351463 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 8987903 Hdac6 histone deacetylase 6 gene DOID:9004484 Sepsis ISO RGD:619981 D RGD:9068941 20200609 RGD PMID:20538901|REF_RGD_ID:7364733 8987986 Rnf217 ring finger protein 217 gene DOID:2377 multiple sclerosis ISO RGD:1315678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to 8987986 Rnf217 ring finger protein 217 gene DOID:630 genetic disease ISO RGD:1315678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988003 Gas6 growth arrest specific 6 gene DOID:0060903 thrombosis ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11175853|PMID:15130911|PMID:15733062|PMID:16564713 8988003 Gas6 growth arrest specific 6 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8988003 Gas6 growth arrest specific 6 gene DOID:2222 factor X deficiency ISO RGD:736280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8988003 Gas6 growth arrest specific 6 gene DOID:2921 glomerulonephritis ISO RGD:61913 D RGD:9068941 20200609 RGD PMID:11290560|REF_RGD_ID:1579882 8988003 Gas6 growth arrest specific 6 gene DOID:3021 acute kidney failure ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19564549 8988003 Gas6 growth arrest specific 6 gene DOID:630 genetic disease ISO RGD:736280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988003 Gas6 growth arrest specific 6 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12644472 8988003 Gas6 growth arrest specific 6 gene DOID:9002514 Neointima ISO RGD:61913 D RGD:9068941 20200609 RGD PMID:9758639|REF_RGD_ID:631894 8988003 Gas6 growth arrest specific 6 gene DOID:9003121 Thromboembolism ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16564713 8988003 Gas6 growth arrest specific 6 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8988003 Gas6 growth arrest specific 6 gene DOID:9003936 Cardiomegaly ISO RGD:736280 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19564549 8988003 Gas6 growth arrest specific 6 gene DOID:9004484 Sepsis ISO RGD:736280 D RGD:9068941 20200609 RGD PMID:16374177|REF_RGD_ID:1579935 8988003 Gas6 growth arrest specific 6 gene DOID:9007096 Stroke ISO RGD:736280 D RGD:9068941 20200609 RGD PMID:15108283|REF_RGD_ID:1579883 8988044 Megf10 multiple EGF like domains 10 gene DOID:0080000 muscular disease ISO RGD:1601732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 8988044 Megf10 multiple EGF like domains 10 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1601732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8988044 Megf10 multiple EGF like domains 10 gene DOID:0081345 congenital myopathy 10B ISO RGD:1601732 D RGD:7240710 20230607 OMIM 8988044 Megf10 multiple EGF like domains 10 gene DOID:0081345 congenital myopathy 10B ISO RGD:1601732 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital myopathy 10b, mild variant PMID:22101682|PMID:22371254|PMID:23954233|PMID:25741868|PMID:27460346|PMID:28492532|PMID:28498977|PMID:29128256|PMID:36349186 8988044 Megf10 multiple EGF like domains 10 gene DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ISO RGD:1601732 D RGD:7240710 20180130 OMIM 8988044 Megf10 multiple EGF like domains 10 gene DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ISO RGD:1601732 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 10A, SEVERE VARIANT | ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset PMID:16199547|PMID:17236770|PMID:17576681|PMID:22101682|PMID:22371254|PMID:23453856|PMID:23954233|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26802438|PMID:28492532|PMID:28498977|PMID:31127727|PMID:31501239|PMID:35370044|PMID:36349186|PMID:9536098 8988044 Megf10 multiple EGF like domains 10 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1601732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 8988044 Megf10 multiple EGF like domains 10 gene DOID:630 genetic disease ISO RGD:1601732 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8988044 Megf10 multiple EGF like domains 10 gene DOID:9000123 Deglutition Disorders ISO RGD:1601732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22101682 8988044 Megf10 multiple EGF like domains 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8988044 Megf10 multiple EGF like domains 10 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1601732 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8988098 Faah2 fatty acid amide hydrolase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8988098 Faah2 fatty acid amide hydrolase 2 gene DOID:12849 autistic disorder ISO RGD:1603557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 8988098 Faah2 fatty acid amide hydrolase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1603557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401301 8988098 Faah2 fatty acid amide hydrolase 2 gene DOID:630 genetic disease ISO RGD:1603557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988118 Hhla1 HHLA1 neighbor of OC90 gene DOID:630 genetic disease ISO RGD:1353531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988157 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:0111991 immunodeficiency 62 ISO RGD:30307884 D RGD:7240710 20210922 OMIM 8988157 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:0111991 immunodeficiency 62 ISO RGD:30307884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 62 PMID:25741868|PMID:28492532|PMID:30521495 8988157 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8988157 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:1342 congenital hypoplastic anemia ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8988157 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:2340 craniosynostosis ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8988157 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:5419 schizophrenia ISO RGD:30307884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8988157 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:630 genetic disease ISO RGD:30307884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8988157 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8988157 Arhgef1 Rho guanine nucleotide exchange factor 1 gene DOID:9269 maple syrup urine disease ISO RGD:30307884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8988210 Percc1 proline and glutamate rich with coiled coil 1 gene DOID:9002198 Diarrhea 11 ISO RGD:14696710 D RGD:7240710 20191204 OMIM 8988210 Percc1 proline and glutamate rich with coiled coil 1 gene DOID:9002198 Diarrhea 11 ISO RGD:14696710 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Diarrhea 11, malabsorptive, congenital PMID:25741868|PMID:31217582 8988216 Tia1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1313955 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gower's muscular dystrophy PMID:25741868|PMID:28492532|PMID:28817800|PMID:31996268|PMID:36112647 8988216 Tia1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:0081380 amyotrophic lateral sclerosis type 26 ISO RGD:1313955 D RGD:7240710 20210113 OMIM 8988216 Tia1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:0081380 amyotrophic lateral sclerosis type 26 ISO RGD:1313955 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia PMID:28492532|PMID:28817800|PMID:29216908|PMID:29886022|PMID:36112647 8988216 Tia1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:224 transient cerebral ischemia ISO RGD:1305742 D RGD:9068941 20200609 RGD PMID:16055272|REF_RGD_ID:10059581 8988216 Tia1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:630 genetic disease ISO RGD:1313955 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8988216 Tia1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:9008982 Welander Distal Myopathy, Swedish Type ISO RGD:1313955 D RGD:7240710 20180130 OMIM 8988216 Tia1 TIA1 cytotoxic granule associated RNA binding protein gene DOID:9008982 Welander Distal Myopathy, Swedish Type ISO RGD:1313955 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Welander distal myopathy PMID:10482271|PMID:16199547|PMID:17576681|PMID:23348830|PMID:23401021|PMID:25741868|PMID:26467025|PMID:26627873|PMID:27282841|PMID:28492532|PMID:28817800|PMID:29216908|PMID:29886022|PMID:31996268|PMID:36112647|PMID:9536098 8988265 Nrcam neuronal cell adhesion molecule gene DOID:0060041 autism spectrum disorder ISO RGD:735378 D RGD:9068941 20220825 MouseDO 8988265 Nrcam neuronal cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:731343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17106428|PMID:18664314 8988265 Nrcam neuronal cell adhesion molecule gene DOID:303 substance-related disorder ISO RGD:731343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123759 8988265 Nrcam neuronal cell adhesion molecule gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8988265 Nrcam neuronal cell adhesion molecule gene DOID:630 genetic disease ISO RGD:731343 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:35108495 8988265 Nrcam neuronal cell adhesion molecule gene DOID:9002189 High Myopia ISO RGD:731343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8988265 Nrcam neuronal cell adhesion molecule gene DOID:9007937 NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES ISO RGD:731343 D RGD:7240710 20220706 OMIM 8988265 Nrcam neuronal cell adhesion molecule gene DOID:9007937 NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES ISO RGD:731343 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: NRCAM-related condition | ClinVar Annotator: match by term: NRCAM-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities PMID:25741868|PMID:35108495 8988265 Nrcam neuronal cell adhesion molecule gene DOID:9008443 Colorectal Neoplasms ISO RGD:731343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 8988265 Nrcam neuronal cell adhesion molecule gene DOID:9008939 Breast Neoplasms ISO RGD:731343 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 8988308 Ca2 carbonic anhydrase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 8988308 Ca2 carbonic anhydrase 2 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:737257 D RGD:9068941 20220916 RGD PMID:27688658|REF_RGD_ID:155226860 8988308 Ca2 carbonic anhydrase 2 gene DOID:0110941 autosomal recessive osteopetrosis 3 ISO RGD:737257 D RGD:7240710 20180130 OMIM 8988308 Ca2 carbonic anhydrase 2 gene DOID:0110941 autosomal recessive osteopetrosis 3 ISO RGD:737257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis PMID:12566520|PMID:1301935|PMID:15300855|PMID:1542674|PMID:18060825|PMID:1928091|PMID:25741868|PMID:28492532|PMID:4624444|PMID:5041390|PMID:7627193|PMID:8127074|PMID:8128957|PMID:8834238 8988308 Ca2 carbonic anhydrase 2 gene DOID:11476 osteoporosis ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8988308 Ca2 carbonic anhydrase 2 gene DOID:13533 osteopetrosis susceptibility ISO RGD:737257 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:1301935|REF_RGD_ID:1600698 8988308 Ca2 carbonic anhydrase 2 gene DOID:299 adenocarcinoma ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8988308 Ca2 carbonic anhydrase 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8988308 Ca2 carbonic anhydrase 2 gene DOID:3883 Lynch syndrome ISO RGD:737257 D RGD:9068941 20220916 RGD protein:decreased expression:colorectum PMID:17855694|REF_RGD_ID:155226867 8988308 Ca2 carbonic anhydrase 2 gene DOID:630 genetic disease ISO RGD:737257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8988308 Ca2 carbonic anhydrase 2 gene DOID:684 hepatocellular carcinoma ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8988308 Ca2 carbonic anhydrase 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:737257 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 8988308 Ca2 carbonic anhydrase 2 gene DOID:9002315 Kidney Calculi ISO RGD:2240 D RGD:9068941 20200609 RGD PMID:10977795|REF_RGD_ID:1600710 8988308 Ca2 carbonic anhydrase 2 gene DOID:9006205 Animal Disease Models ISO RGD:732618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15816485 8988308 Ca2 carbonic anhydrase 2 gene DOID:9446 cholangitis ISO RGD:732618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15816485 8988319 Znf32 zinc finger protein 32 gene DOID:630 genetic disease ISO RGD:1350572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988336 Echdc3 enoyl-CoA hydratase domain containing 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1351756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8988336 Echdc3 enoyl-CoA hydratase domain containing 3 gene DOID:0080600 COVID-19 ISO RGD:1351756 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8988336 Echdc3 enoyl-CoA hydratase domain containing 3 gene DOID:630 genetic disease ISO RGD:1351756 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988348 Abhd12 abhydrolase domain containing 12, lysophospholipase gene DOID:0050795 cone dystrophy ISO RGD:1314604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:24697911 8988348 Abhd12 abhydrolase domain containing 12, lysophospholipase gene DOID:0080181 PHARC syndrome ISO RGD:1314604 D RGD:7240710 20180130 OMIM 8988348 Abhd12 abhydrolase domain containing 12, lysophospholipase gene DOID:0080181 PHARC syndrome ISO RGD:1314604 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: ABHD12-related condition | ClinVar Annotator: match by term: PHARC syndrome PMID:17576681|PMID:20797687|PMID:23806086|PMID:24088041|PMID:24697911|PMID:25741868|PMID:26257172|PMID:26467025|PMID:28041643|PMID:28492532|PMID:29571850|PMID:30311386|PMID:31690835|PMID:37803361|PMID:9536098 8988348 Abhd12 abhydrolase domain containing 12, lysophospholipase gene DOID:630 genetic disease ISO RGD:1314604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8988348 Abhd12 abhydrolase domain containing 12, lysophospholipase gene DOID:8501 fundus dystrophy ISO RGD:1314604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22938382|PMID:28041643|PMID:28492532 8988348 Abhd12 abhydrolase domain containing 12, lysophospholipase gene DOID:9004538 Hearing Loss ISO RGD:1314604 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8988368 Cntnap5 contactin associated protein family member 5 gene DOID:630 genetic disease ISO RGD:1313519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988396 Myod1 myogenic differentiation 1 gene DOID:0081349 congenital myopathy 17 ISO RGD:1353183 D RGD:7240710 20201216 OMIM 8988396 Myod1 myogenic differentiation 1 gene DOID:0081349 congenital myopathy 17 ISO RGD:1353183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies PMID:25741868|PMID:26733463|PMID:30403323|PMID:31260566 8988396 Myod1 myogenic differentiation 1 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:1353183 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:31260566 8988396 Myod1 myogenic differentiation 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1353183 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8988396 Myod1 myogenic differentiation 1 gene DOID:1059 intellectual disability ISO RGD:1353183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8988396 Myod1 myogenic differentiation 1 gene DOID:10763 hypertension ISO RGD:631429 D RGD:9068941 20200609 RGD mRNA:decreased expression:gastrocnemius PMID:22076133|REF_RGD_ID:9686076 8988396 Myod1 myogenic differentiation 1 gene DOID:3246 embryonal rhabdomyosarcoma ISO RGD:1353183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24793135 8988396 Myod1 myogenic differentiation 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1353183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258934 8988396 Myod1 myogenic differentiation 1 gene DOID:422 congenital structural myopathy ISO RGD:1353183 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:31260566 8988396 Myod1 myogenic differentiation 1 gene DOID:6000 congestive heart failure treatment ISO RGD:631429 D RGD:9068941 20200609 RGD associated with Aortic Valve Stenosis PMID:20060348|REF_RGD_ID:9686081 8988396 Myod1 myogenic differentiation 1 gene DOID:630 genetic disease ISO RGD:1353183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988396 Myod1 myogenic differentiation 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1353183 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258934 8988396 Myod1 myogenic differentiation 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:631429 D RGD:9068941 20200609 RGD PMID:23781298|REF_RGD_ID:9686078 8988396 Myod1 myogenic differentiation 1 gene DOID:9008444 Skeletal Muscle Injuries treatment ISO RGD:631429 D RGD:9068941 20200609 RGD PMID:19754672|REF_RGD_ID:9686075 8988396 Myod1 myogenic differentiation 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:631429 D RGD:9068941 20200609 RGD mRNA:decreased expression:diaphragm PMID:21258934|REF_RGD_ID:9686080 8988396 Myod1 myogenic differentiation 1 gene DOID:9970 obesity ISO RGD:631429 D RGD:9068941 20200609 RGD PMID:22349736|REF_RGD_ID:9686079 8988396 Myod1 myogenic differentiation 1 gene DOID:9970 obesity ISO RGD:631429 D RGD:9068941 20200609 RGD mRNA:decreased expression:plantaris PMID:18508911|REF_RGD_ID:2313320 8988418 Rgsl1 regulator of G protein signaling like 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 8988418 Rgsl1 regulator of G protein signaling like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8988418 Rgsl1 regulator of G protein signaling like 1 gene DOID:630 genetic disease ISO RGD:1353178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988418 Rgsl1 regulator of G protein signaling like 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 8988418 Rgsl1 regulator of G protein signaling like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1346272 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346272 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1346272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29718361 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080541 hyperprolinemia ISO RGD:1346272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperprolinemia 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346272 D RGD:7240710 20180130 OMIM 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346272 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:16199547|PMID:17576681|PMID:22516612|PMID:25741868|PMID:2624476|PMID:26822237|PMID:28492532|PMID:9536098|PMID:9700195 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:0080600 COVID-19 ISO RGD:1346272 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:1059 intellectual disability ISO RGD:1346272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:630 genetic disease ISO RGD:1346272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8988444 Aldh4a1 aldehyde dehydrogenase 4 family member A1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8988473 Nanog Nanog homeobox gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1347686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8988473 Nanog Nanog homeobox gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8988473 Nanog Nanog homeobox gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8988473 Nanog Nanog homeobox gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8988473 Nanog Nanog homeobox gene DOID:0111621 Temtamy syndrome ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8988473 Nanog Nanog homeobox gene DOID:14330 Parkinson's disease treatment ISO RGD:1553059 D RGD:9068941 20200609 RGD mouse gene in a rat model;mRNA, protein:increased expression:embryonic stem cell PMID:24954161|REF_RGD_ID:9681444 8988473 Nanog Nanog homeobox gene DOID:219 colon cancer treatment ISO RGD:1303178 D RGD:9068941 20200609 RGD PMID:22641368|REF_RGD_ID:7240527 8988473 Nanog Nanog homeobox gene DOID:3307 teratoma severity ISO RGD:1553059 D RGD:9068941 20200609 RGD mouse gene in a rat Myocardial Infarction model;protein:decreased expression:embryonic stem cell PMID:20817694|REF_RGD_ID:9681441 8988473 Nanog Nanog homeobox gene DOID:630 genetic disease ISO RGD:1347686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988473 Nanog Nanog homeobox gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1347686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 8988473 Nanog Nanog homeobox gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1347686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29626521 8988473 Nanog Nanog homeobox gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1347686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8988488 Ypel4 yippee like 4 gene DOID:0080600 COVID-19 ISO RGD:1345149 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8988488 Ypel4 yippee like 4 gene DOID:1059 intellectual disability ISO RGD:1345149 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8988488 Ypel4 yippee like 4 gene DOID:630 genetic disease ISO RGD:1345149 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:0080000 muscular disease ISO RGD:735799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11102975|PMID:18380285 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:0080690 RASopathy ISO RGD:735799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:735799 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:12849 autistic disorder ISO RGD:735799 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:25155876|PMID:28492532 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735799 D RGD:9068941 20230518 RGD DNA:SNP:exon 2:34C>T (human) PMID:11028479|REF_RGD_ID:329349360 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735799 D RGD:9068941 20230518 RGD DNA:SNP:exon:34C>T (human) PMID:24508110|REF_RGD_ID:329412480 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:6000 congestive heart failure susceptibility ISO RGD:735799 D RGD:9068941 20230511 RGD DNA:SNP:exon 2:CT (human) PMID:15309698|REF_RGD_ID:329412474 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:735799 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:25741868|PMID:28492532 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:9005532 Muscle Weakness ISO RGD:735799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10996775 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:735799 D RGD:9068941 20230518 RGD associated with congestive heart failure; DNA:SNP:exon 2:34C>T (human) PMID:16875916|REF_RGD_ID:329412475 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:9007712 Adenosine Monophosphate Deaminase Deficiency ISO RGD:735799 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10996775|PMID:11102975|PMID:1631143 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY ISO RGD:735799 D RGD:7240710 20190717 OMIM 8988504 Ampd1 adenosine monophosphate deaminase 1 gene DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY ISO RGD:735799 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Muscle AMP deaminase deficiency PMID:10996775|PMID:11102975|PMID:12117480|PMID:14499869|PMID:15173240|PMID:15378456|PMID:16199547|PMID:1631143|PMID:17576681|PMID:18619730|PMID:1922051|PMID:19353846|PMID:21343608|PMID:24503134|PMID:25155876|PMID:25741868|PMID:28492532|PMID:29095874|PMID:31847883|PMID:34490048|PMID:8335021|PMID:9536098 8988531 Plscr4 phospholipid scramblase 4 gene DOID:10003 sensorineural hearing loss ISO RGD:1323284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8988531 Plscr4 phospholipid scramblase 4 gene DOID:5409 lung small cell carcinoma ISO RGD:1323284 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8988531 Plscr4 phospholipid scramblase 4 gene DOID:630 genetic disease ISO RGD:1323284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988544 LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8988544 LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ISO RGD:1344241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia PMID:24550228|PMID:28492532 8988544 LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome ISO RGD:1344241 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 8988544 LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0111808 linear skin defects with multiple congenital anomalies 1 ISO RGD:1344241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8988544 LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0111877 linear skin defects with multiple congenital anomalies 2 ISO RGD:1344241 D RGD:7240710 20180130 OMIM 8988544 LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:0111877 linear skin defects with multiple congenital anomalies 2 ISO RGD:1344241 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 PMID:23122588|PMID:25741868|PMID:28492532|PMID:9747372 8988544 LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:12849 autistic disorder ISO RGD:1344241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8988544 LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial gene DOID:1838 Menkes disease ISO RGD:1344241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 8988551 Garre1 granule associated Rac and RHOG effector 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8988551 Garre1 granule associated Rac and RHOG effector 1 gene DOID:630 genetic disease ISO RGD:1318189 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988569 Zzz3 zinc finger ZZ-type containing 3 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1351388 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:34686948 8988569 Zzz3 zinc finger ZZ-type containing 3 gene DOID:630 genetic disease ISO RGD:1351388 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988587 Gtf2h4 general transcription factor IIH subunit 4 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1352501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8988587 Gtf2h4 general transcription factor IIH subunit 4 gene DOID:11372 megacolon ISO RGD:1352501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8988587 Gtf2h4 general transcription factor IIH subunit 4 gene DOID:630 genetic disease ISO RGD:1352501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988606 Rit2 Ras like without CAAX 2 gene DOID:1059 intellectual disability ISO RGD:1316971 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8988606 Rit2 Ras like without CAAX 2 gene DOID:630 genetic disease ISO RGD:1316971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988606 Rit2 Ras like without CAAX 2 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:1307654 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8988619 Rps6ka6 ribosomal protein S6 kinase A6 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8988619 Rps6ka6 ribosomal protein S6 kinase A6 gene DOID:12849 autistic disorder ISO RGD:1350176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8988619 Rps6ka6 ribosomal protein S6 kinase A6 gene DOID:630 genetic disease ISO RGD:1350176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988652 Stk39 serine/threonine kinase 39 gene DOID:0050450 Gitelman syndrome ISO RGD:734215 D RGD:9068941 20220825 MouseDO OMIM:263800 8988652 Stk39 serine/threonine kinase 39 gene DOID:10763 hypertension ISO RGD:734214 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22949526 8988652 Stk39 serine/threonine kinase 39 gene DOID:12849 autistic disorder ISO RGD:734214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18348195 8988652 Stk39 serine/threonine kinase 39 gene DOID:3910 lung adenocarcinoma ISO RGD:734214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8988652 Stk39 serine/threonine kinase 39 gene DOID:4479 pseudohypoaldosteronism ISO RGD:734215 D RGD:9068941 20220825 MouseDO 8988652 Stk39 serine/threonine kinase 39 gene DOID:630 genetic disease ISO RGD:734214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988652 Stk39 serine/threonine kinase 39 gene DOID:9006205 Animal Disease Models ISO RGD:734214 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8988674 Mtcp1 mature T cell proliferation 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1343111 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8988674 Mtcp1 mature T cell proliferation 1 gene DOID:0050476 Barth syndrome ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8988674 Mtcp1 mature T cell proliferation 1 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8988674 Mtcp1 mature T cell proliferation 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1343111 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 8988674 Mtcp1 mature T cell proliferation 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8988674 Mtcp1 mature T cell proliferation 1 gene DOID:11372 megacolon ISO RGD:1343111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8988674 Mtcp1 mature T cell proliferation 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8988674 Mtcp1 mature T cell proliferation 1 gene DOID:12849 autistic disorder ISO RGD:1343111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8988674 Mtcp1 mature T cell proliferation 1 gene DOID:13628 favism ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 8988674 Mtcp1 mature T cell proliferation 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1343111 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 8988674 Mtcp1 mature T cell proliferation 1 gene DOID:607 paraplegia ISO RGD:1343111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 8988674 Mtcp1 mature T cell proliferation 1 gene DOID:9002720 Splenomegaly ISO RGD:1343111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 8988706 Trex1 three prime repair exonuclease 1 gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1320018 D RGD:9068941 20220825 MouseDO 8988706 Trex1 three prime repair exonuclease 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1323748 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME PMID:16845398|PMID:17660818|PMID:17846997|PMID:20131292|PMID:21270825|PMID:23602593|PMID:23881107|PMID:24033266|PMID:24183309|PMID:24300241|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26467025|PMID:26938784|PMID:27943079|PMID:28492532|PMID:28750028|PMID:29159939|PMID:29453417|PMID:35307828|PMID:35532072 8988706 Trex1 three prime repair exonuclease 1 gene DOID:0060386 Chilblain lupus ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chilblain lupus PMID:16960810|PMID:17357087|PMID:17440703|PMID:18805785|PMID:20799324|PMID:20871604|PMID:21808053|PMID:22829693|PMID:23989343|PMID:25848017|PMID:28492532 8988706 Trex1 three prime repair exonuclease 1 gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1323748 D RGD:7240710 20240131 OMIM 8988706 Trex1 three prime repair exonuclease 1 gene DOID:0111567 retinal vasculopathy with cerebral leukodystrophy ISO RGD:1323748 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23602593|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:26938784|PMID:27391121|PMID:27604306|PMID:27943079|PMID:28089741|PMID:28492532|PMID:29159939|PMID:29239743|PMID:29453417|PMID:30219631|PMID:3174024|PMID:31980526|PMID:33504652|PMID:34426522|PMID:35307828|PMID:35532072|PMID:9371916 8988706 Trex1 three prime repair exonuclease 1 gene DOID:13945 CADASIL ISO RGD:1323748 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: CASIL PMID:17660818|PMID:21270825|PMID:23881107|PMID:25741868|PMID:28492532|PMID:35307828 8988706 Trex1 three prime repair exonuclease 1 gene DOID:630 genetic disease ISO RGD:1323748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:23979357|PMID:24033266|PMID:24183309|PMID:24224166|PMID:25138095|PMID:25500883|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:33606975|PMID:34426522 8988706 Trex1 three prime repair exonuclease 1 gene DOID:8501 fundus dystrophy ISO RGD:1323748 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 8988706 Trex1 three prime repair exonuclease 1 gene DOID:8725 vascular dementia ISO RGD:1323748 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:17660818|PMID:21270825|PMID:23881107|PMID:25741868|PMID:28492532|PMID:35307828 8988706 Trex1 three prime repair exonuclease 1 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1323748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombotic microangiopathy PMID:29941221 8988706 Trex1 three prime repair exonuclease 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1323748 D RGD:7240710 20240131 OMIM 8988706 Trex1 three prime repair exonuclease 1 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1323748 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:16960810|PMID:17293595|PMID:17357087|PMID:17440703|PMID:17660818|PMID:17660820|PMID:17846997|PMID:1821204|PMID:18583934|PMID:18805785|PMID:19344873|PMID:19875384|PMID:20131292|PMID:20799324|PMID:20871604|PMID:21270825|PMID:21808053|PMID:21937424|PMID:22367235|PMID:22829693|PMID:23602593|PMID:23881107|PMID:23918923|PMID:23979357|PMID:23989343|PMID:24033266|PMID:24088041|PMID:24183309|PMID:24224166|PMID:24300241|PMID:25138095|PMID:25500883|PMID:25582466|PMID:25604658|PMID:25741868|PMID:25848017|PMID:25906927|PMID:26150267|PMID:26182405|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26691497|PMID:26938784|PMID:27391121|PMID:27604306|PMID:28089741|PMID:28492532|PMID:28750028|PMID:28919362|PMID:29159939|PMID:29239743|PMID:29387804|PMID:29453417|PMID:29453956|PMID:30219631|PMID:31130681|PMID:31589614|PMID:31719132|PMID:3174024|PMID:31980526|PMID:32860008|PMID:33504652|PMID:33606975|PMID:33892200|PMID:34426522|PMID:34440436|PMID:34490615|PMID:34490982|PMID:35307828|PMID:35532072|PMID:3580372|PMID:35803721|PMID:35879334 8988706 Trex1 three prime repair exonuclease 1 gene DOID:9001488 Human Influenza ISO RGD:1323748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8988706 Trex1 three prime repair exonuclease 1 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1323748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 8988706 Trex1 three prime repair exonuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323748 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8988706 Trex1 three prime repair exonuclease 1 gene DOID:9005372 Inflammation ISO RGD:1323748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16845398 8988706 Trex1 three prime repair exonuclease 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1323748 D RGD:7240710 20240131 OMIM 8988706 Trex1 three prime repair exonuclease 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1323748 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Chilblain lupus 1 PMID:16845398|PMID:17660818|PMID:20131292|PMID:21270825|PMID:23602593|PMID:23881107|PMID:24183309|PMID:25582466|PMID:25604658|PMID:25741868|PMID:26938784|PMID:27943079|PMID:28492532|PMID:29453417|PMID:35307828 8988706 Trex1 three prime repair exonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323748 D RGD:7240710 20240131 OMIM 8988706 Trex1 three prime repair exonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323748 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:16845398|PMID:17293595|PMID:17660818|PMID:17660820|PMID:17846997|PMID:18583934|PMID:18805785|PMID:20131292|PMID:21270825|PMID:21937424|PMID:23881107|PMID:24033266|PMID:24224166|PMID:25138095|PMID:25604658|PMID:25741868|PMID:25906927|PMID:26182405|PMID:26467025|PMID:27391121|PMID:28089741|PMID:28492532|PMID:29239743|PMID:30219631|PMID:31980526|PMID:33504652|PMID:34426522 8988706 Trex1 three prime repair exonuclease 1 gene DOID:936 brain disease ISO RGD:1323748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16845398 8988712 Mtrf1 mitochondrial translation release factor 1 gene DOID:630 genetic disease ISO RGD:1352853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988738 Snn stannin gene DOID:5419 schizophrenia ISO RGD:736222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8988738 Snn stannin gene DOID:630 genetic disease ISO RGD:736222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988744 Rnase11 ribonuclease A family member 11 (inactive) gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1602837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 8988744 Rnase11 ribonuclease A family member 11 (inactive) gene DOID:630 genetic disease ISO RGD:1602837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988747 Cmtm6 CKLF like MARVEL transmembrane domain containing 6 gene DOID:630 genetic disease ISO RGD:1317145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988791 Wdhd1 WD repeat and HMG-box DNA binding protein 1 gene DOID:4947 cholangiocarcinoma ameliorates ISO RGD:1320961 D RGD:9068941 20230216 RGD PMID:30314946|REF_RGD_ID:156420141 8988791 Wdhd1 WD repeat and HMG-box DNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1320961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988830 Efr3b EFR3 homolog B gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1602224 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 8988830 Efr3b EFR3 homolog B gene DOID:630 genetic disease ISO RGD:1602224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988857 Atpsckmt ATP synthase c subunit lysine N-methyltransferase gene DOID:630 genetic disease ISO RGD:1603183 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988880 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1350674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8988880 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:1059 intellectual disability ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 8988880 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:10907 microcephaly ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8988880 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:14557 primary pulmonary hypertension ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8988880 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8988880 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:630 genetic disease ISO RGD:1350674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28191889|PMID:28492532|PMID:9536098 8988880 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:9000999 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 ISO RGD:1350674 D RGD:7240710 20190315 OMIM 8988880 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:9000999 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 ISO RGD:1350674 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder | ClinVar Annotator: match by term: UNC80-related condition PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:25741873|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532|PMID:28708303|PMID:29430593|PMID:30167850|PMID:30771478|PMID:31130284|PMID:31607746|PMID:31785789|PMID:31839005|PMID:32712949|PMID:9536098 8988880 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8988880 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:9006603 Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies ISO RGD:1350674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies PMID:24033266|PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532 8988880 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1350674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 8988880 Unc80 unc-80 homolog, NALCN channel complex subunit gene DOID:936 brain disease ISO RGD:1350674 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868|PMID:26545877|PMID:26708751|PMID:26708753|PMID:28492532 8988961 Slc35g1 solute carrier family 35 member G1 gene DOID:10283 prostate cancer ISO RGD:1354059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8988961 Slc35g1 solute carrier family 35 member G1 gene DOID:630 genetic disease ISO RGD:1354059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:619564 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:0050700 cardiomyopathy ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10620750 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:619564 D RGD:9068941 20220331 RGD human cell line in a mouse model PMID:25548290|PMID:27286263|REF_RGD_ID:151665507|REF_RGD_ID:151665508 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:619564 D RGD:9068941 20220324 RGD PMID:23624232|REF_RGD_ID:151665352 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:10652 Alzheimer's disease ISO RGD:70496 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal lobe cortex, hippocampus CA2 (rat) PMID:20529587|REF_RGD_ID:10047076 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:10652 Alzheimer's disease treatment ISO RGD:619565 D RGD:9068941 20200609 RGD PMID:17784957|REF_RGD_ID:10047104 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:114 heart disease ISO RGD:619565 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19617408|REF_RGD_ID:2311565 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:11476 osteoporosis treatment ISO RGD:70496 D RGD:9068941 20200609 RGD PMID:18442314|REF_RGD_ID:10045965 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:12236 primary biliary cholangitis ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:13580 cholestasis ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:13619 extrahepatic cholestasis ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:1561 cognitive disorder ISO RGD:619565 D RGD:9068941 20200609 RGD associated with Chronic Cerebral Hypoperfusion; PMID:24371084|REF_RGD_ID:10412307 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:1574 alcohol use disorder ISO RGD:619565 D RGD:9068941 20240125 RGD protein:increased expression, increased phosphorylation:liver PMID:31262967|REF_RGD_ID:401959334 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:1909 melanoma ameliorates ISO RGD:619565 D RGD:9068941 20220331 RGD mouse cell line in a mouse model PMID:29907597|REF_RGD_ID:151665504 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:1993 rectum cancer susceptibility ISO RGD:619564 D RGD:9068941 20220407 RGD DNA:SNPs:introns: (rs851011, rs851006) (human) PMID:23859041|REF_RGD_ID:150573807 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:219 colon cancer susceptibility ISO RGD:619564 D RGD:9068941 20220407 RGD DNA:SNP:intron: (rs10807156) (human) PMID:23859041|REF_RGD_ID:150573807 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:219 colon cancer susceptibility ISO RGD:619564 D RGD:9068941 20220407 RGD DNA:SNP:intron: (rs851016) (human) PMID:23027623|REF_RGD_ID:13217411 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:619565 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:motor neuron: PMID:15910777|REF_RGD_ID:10412312 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:3571 liver cancer exacerbates ISO RGD:619565 D RGD:9068941 20220324 RGD PMID:17468757|REF_RGD_ID:151665350 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:619564 D RGD:9068941 20220324 RGD mRNA:increased expression:stomach (human) PMID:32243890|REF_RGD_ID:151665345 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:619564 D RGD:9068941 20220407 RGD mRNA:increased expression:stomach (human) PMID:30238991|REF_RGD_ID:151665792 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:619565 D RGD:9068941 20220331 RGD mRNA:increased expression:lung (human) PMID:31969449|REF_RGD_ID:151665505 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:397 restrictive cardiomyopathy ISO RGD:1315342|RGD:732805 D RGD:9068941 20200609 RGD PMID:11593045|REF_RGD_ID:1302548 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:70496 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:5082 liver cirrhosis exacerbates ISO RGD:619565 D RGD:9068941 20220324 RGD PMID:23271722|REF_RGD_ID:151665348 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:5844 myocardial infarction ameliorates ISO RGD:619565 D RGD:9068941 20230921 RGD PMID:33409963|REF_RGD_ID:401794430 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:630 genetic disease ISO RGD:619564 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:619565 D RGD:9068941 20220324 RGD PMID:23271722|REF_RGD_ID:151665348 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:619565 D RGD:9068941 20220324 RGD PMID:25216638|REF_RGD_ID:151665347 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:8552 chronic myeloid leukemia ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16818652 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619565 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activity:kidney PMID:19066844|REF_RGD_ID:2311566 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9003690 Carcinoma, Lewis Lung ameliorates ISO RGD:619565 D RGD:9068941 20220331 RGD mouse cell line in a mouse model PMID:29907597|REF_RGD_ID:151665504 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9004250 Hepatic Insufficiency ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:619565 D RGD:9068941 20220331 RGD PMID:29907597|PMID:30541887|REF_RGD_ID:151665503|REF_RGD_ID:151665504 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9004831 Colitis-Associated Neoplasms exacerbates ISO RGD:619565 D RGD:9068941 20220331 RGD PMID:24684847|REF_RGD_ID:151665506 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9005172 Lung Neoplasms ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468755 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9005172 Lung Neoplasms ameliorates ISO RGD:619565 D RGD:9068941 20220331 RGD PMID:31969449|REF_RGD_ID:151665505 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9005369 Hepatomegaly ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9005930 Endotoxemia ISO RGD:70496 D RGD:9068941 20200609 RGD protein:increased activity:small intestine mucosa PMID:21641970|REF_RGD_ID:5135029 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9005930 Endotoxemia treatment ISO RGD:70496 D RGD:9068941 20200609 RGD PMID:24312512|REF_RGD_ID:10047418 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions susceptibility ISO RGD:619564 D RGD:9068941 20220324 RGD associated with lung non-small cell carcinoma;DNA:SNP:3' utr, intron: (rs3804451) (human) PMID:26993769|REF_RGD_ID:151665351 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9007102 Myocardial Ischemia ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9007188 Liver Neoplasms ISO RGD:619564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468757 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:619565 D RGD:9068941 20200609 RGD PMID:14749328|REF_RGD_ID:7495840 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:619565 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:corpus callosum, endothelial cell, astrocyte: PMID:24371084|REF_RGD_ID:10412307 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9256 colorectal cancer exacerbates ISO RGD:619565 D RGD:9068941 20220324 RGD associated with experimental colitis PMID:22828150|REF_RGD_ID:151665346 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9261 nasopharynx carcinoma treatment ISO RGD:619564 D RGD:9068941 20220331 RGD human cell line in a mouse model PMID:32449282|REF_RGD_ID:151665502 8988968 Mapk14 mitogen-activated protein kinase 14 gene DOID:9743 diabetic neuropathy ISO RGD:70496 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18579738|REF_RGD_ID:2311567 8988998 Gpi glucose-6-phosphate isomerase gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1344852 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8988998 Gpi glucose-6-phosphate isomerase gene DOID:1059 intellectual disability ISO RGD:1344852 D RGD:9068941 20200609 RGD Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) PMID:9856489|REF_RGD_ID:1600632 8988998 Gpi glucose-6-phosphate isomerase gene DOID:12971 hereditary spherocytosis ISO RGD:1344852 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis PMID:25741868 8988998 Gpi glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:10680 D RGD:9068941 20200609 RGD PMID:8417789|REF_RGD_ID:11051955 8988998 Gpi glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:10680 D RGD:9068941 20220825 MouseDO OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470 8988998 Gpi glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:1344852 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:9446754|REF_RGD_ID:11051849 8988998 Gpi glucose-6-phosphate isomerase gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:1344852 D RGD:9068941 20200609 RGD DNA:point_mutation:CDS:1648A>G amino acid K550E PMID:17041899|REF_RGD_ID:1600633 8988998 Gpi glucose-6-phosphate isomerase gene DOID:3910 lung adenocarcinoma ISO RGD:10680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8988998 Gpi glucose-6-phosphate isomerase gene DOID:440 neuromuscular disease ISO RGD:1344852 D RGD:9068941 20200609 RGD Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) PMID:9856489|REF_RGD_ID:1600632 8988998 Gpi glucose-6-phosphate isomerase gene DOID:583 hemolytic anemia ISO RGD:1344852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:32581362 8988998 Gpi glucose-6-phosphate isomerase gene DOID:589 congenital hemolytic anemia ISO RGD:1344852 D RGD:9068941 20200609 RGD DNA:point_mutations:CDS:compound heterozygote for amino acids G158S and R346H PMID:8499925|REF_RGD_ID:1600631 8988998 Gpi glucose-6-phosphate isomerase gene DOID:589 congenital hemolytic anemia ISO RGD:1344852 D RGD:9068941 20200609 RGD Severe GPI deficiency with neurologic deficits DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P) PMID:9856489|REF_RGD_ID:1600632 8988998 Gpi glucose-6-phosphate isomerase gene DOID:630 genetic disease ISO RGD:1344852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19064002|PMID:25741868|PMID:28492532|PMID:31133865|PMID:8499925 8988998 Gpi glucose-6-phosphate isomerase gene DOID:9000965 Neoplasm Metastasis ISO RGD:10680 D RGD:9068941 20200609 RGD PMID:20978190|REF_RGD_ID:11051956 8988998 Gpi glucose-6-phosphate isomerase gene DOID:9002457 Experimental Arthritis ISO RGD:1344852 D RGD:9068941 20200609 RGD PMID:23911657|REF_RGD_ID:11051957 8988998 Gpi glucose-6-phosphate isomerase gene DOID:9005912 Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency ISO RGD:1344852 D RGD:7240710 20180130 OMIM 8988998 Gpi glucose-6-phosphate isomerase gene DOID:9005912 Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency ISO RGD:1344852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GPI-related condition | ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency | ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency PMID:10916680|PMID:19064002|PMID:24033266|PMID:25741868|PMID:26509025|PMID:27519939|PMID:28492532|PMID:30585945|PMID:31133865|PMID:32581362|PMID:4076245|PMID:7989588|PMID:8499925|PMID:8822952|PMID:8822954|PMID:9616041|PMID:9856489 8988998 Gpi glucose-6-phosphate isomerase gene DOID:9006205 Animal Disease Models ISO RGD:10680 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8988998 Gpi glucose-6-phosphate isomerase gene DOID:9008939 Breast Neoplasms ISO RGD:1344852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 8988998 Gpi glucose-6-phosphate isomerase gene DOID:9119 acute myeloid leukemia ISO RGD:1344852 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:6589021|REF_RGD_ID:11051848 8988998 Gpi glucose-6-phosphate isomerase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1344852 D RGD:9068941 20200609 RGD PMID:6589021|REF_RGD_ID:11051848 8989021 Sarm1 sterile alpha and TIR motif containing 1 gene DOID:0111678 hereditary folate malabsorption ISO RGD:1320776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital defect of folate absorption PMID:11807405|PMID:17129779|PMID:17446347|PMID:19740703|PMID:20301716|PMID:20686069|PMID:21489556|PMID:22345511|PMID:25741868|PMID:27664775|PMID:28492532 8989021 Sarm1 sterile alpha and TIR motif containing 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1320776 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478430 8989021 Sarm1 sterile alpha and TIR motif containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1320776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8989021 Sarm1 sterile alpha and TIR motif containing 1 gene DOID:630 genetic disease ISO RGD:1320776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11807405|PMID:17129779|PMID:19740703|PMID:20301716|PMID:21489556|PMID:25741868|PMID:27664775|PMID:28492532 8989021 Sarm1 sterile alpha and TIR motif containing 1 gene DOID:9000343 Vision Disorders ISO RGD:1320776 D RGD:9068941 20230907 CTD CTD Direct Evidence: therapeutic PMID:35163535 8989040 Efhd1 EF-hand domain family member D1 gene DOID:0060476 Perlman syndrome ISO RGD:1350827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8989040 Efhd1 EF-hand domain family member D1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1350827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8989040 Efhd1 EF-hand domain family member D1 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1350827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8989040 Efhd1 EF-hand domain family member D1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1350827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 8989040 Efhd1 EF-hand domain family member D1 gene DOID:630 genetic disease ISO RGD:1350827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989040 Efhd1 EF-hand domain family member D1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1350827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8989048 Spcs2 signal peptidase complex subunit 2 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1345346 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8989048 Spcs2 signal peptidase complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1345346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8989048 Spcs2 signal peptidase complex subunit 2 gene DOID:630 genetic disease ISO RGD:1345346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989057 Xkr7 XK related 7 gene DOID:630 genetic disease ISO RGD:1605535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989063 Dcps decapping enzyme, scavenger gene DOID:0111723 Jacobsen Syndrome ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8989063 Dcps decapping enzyme, scavenger gene DOID:5419 schizophrenia ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8989063 Dcps decapping enzyme, scavenger gene DOID:630 genetic disease ISO RGD:1344529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8989063 Dcps decapping enzyme, scavenger gene DOID:9003530 Al-Raqad Syndrome ISO RGD:1344529 D RGD:7240710 20180130 OMIM 8989063 Dcps decapping enzyme, scavenger gene DOID:9003530 Al-Raqad Syndrome ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Al-Raqad syndrome PMID:25701870|PMID:25712129|PMID:25741868|PMID:28492532|PMID:30289615 8989063 Dcps decapping enzyme, scavenger gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8989063 Dcps decapping enzyme, scavenger gene DOID:9007661 Dwarfism ISO RGD:1344529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8989077 Hdhd2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:0060356 Vici syndrome ISO RGD:1348609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8989077 Hdhd2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1348609 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8989077 Hdhd2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:630 genetic disease ISO RGD:1348609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989077 Hdhd2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1348609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8989077 Hdhd2 haloacid dehalogenase like hydrolase domain containing 2 gene DOID:9004657 Weight Gain ISO RGD:1348609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8989088 Cdk7 cyclin dependent kinase 7 gene DOID:10652 Alzheimer's disease ISO RGD:734279 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:11124424|REF_RGD_ID:10059352 8989088 Cdk7 cyclin dependent kinase 7 gene DOID:630 genetic disease ISO RGD:734279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989088 Cdk7 cyclin dependent kinase 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734279 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8989111 Cass4 Cas scaffold protein family member 4 gene DOID:10652 Alzheimer's disease ISO RGD:1321668 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:30320580|PMID:33589840 8989111 Cass4 Cas scaffold protein family member 4 gene DOID:630 genetic disease ISO RGD:1321668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989132 Isyna1 inositol-3-phosphate synthase 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1605077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8989132 Isyna1 inositol-3-phosphate synthase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1605077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8989132 Isyna1 inositol-3-phosphate synthase 1 gene DOID:630 genetic disease ISO RGD:1605077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989132 Isyna1 inositol-3-phosphate synthase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8989132 Isyna1 inositol-3-phosphate synthase 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1605077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 8989132 Isyna1 inositol-3-phosphate synthase 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1605077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8989147 Lnx1 ligand of numb-protein X 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1317771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:26614431 8989147 Lnx1 ligand of numb-protein X 1 gene DOID:630 genetic disease ISO RGD:1317771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989177 Dpysl3 dihydropyrimidinase like 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8989177 Dpysl3 dihydropyrimidinase like 3 gene DOID:12849 autistic disorder ISO RGD:735265 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8989177 Dpysl3 dihydropyrimidinase like 3 gene DOID:630 genetic disease ISO RGD:735265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989177 Dpysl3 dihydropyrimidinase like 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8989177 Dpysl3 dihydropyrimidinase like 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735265 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8989200 Ppp4r4 protein phosphatase 4 regulatory subunit 4 gene DOID:0080054 achondrogenesis type IA ISO RGD:1344077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8989200 Ppp4r4 protein phosphatase 4 regulatory subunit 4 gene DOID:0081063 DICER1 syndrome ISO RGD:1344077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 8989200 Ppp4r4 protein phosphatase 4 regulatory subunit 4 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1344077 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 8989200 Ppp4r4 protein phosphatase 4 regulatory subunit 4 gene DOID:630 genetic disease ISO RGD:1344077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989246 Slc25a17 solute carrier family 25 member 17 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1322988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8989246 Slc25a17 solute carrier family 25 member 17 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1322988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 8989246 Slc25a17 solute carrier family 25 member 17 gene DOID:630 genetic disease ISO RGD:1322988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989272 Klhl36 kelch like family member 36 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1350475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8989272 Klhl36 kelch like family member 36 gene DOID:5419 schizophrenia ISO RGD:1350475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8989272 Klhl36 kelch like family member 36 gene DOID:630 genetic disease ISO RGD:1350475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989280 Vps8 VPS8 subunit of CORVET complex gene DOID:0111546 Currarino syndrome ISO RGD:1603690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8989280 Vps8 VPS8 subunit of CORVET complex gene DOID:630 genetic disease ISO RGD:1603690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989280 Vps8 VPS8 subunit of CORVET complex gene DOID:9006836 Contracture ISO RGD:1603690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 8989333 Fdxr ferredoxin reductase gene DOID:630 genetic disease ISO RGD:734233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28965846|PMID:29040572|PMID:30250212|PMID:6766943 8989333 Fdxr ferredoxin reductase gene DOID:9000729 OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME ISO RGD:734233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome PMID:25741868|PMID:30250212 8989333 Fdxr ferredoxin reductase gene DOID:9001890 Auditory Neuropathy ISO RGD:734233 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory dys-synchrony PMID:25741868|PMID:28965846|PMID:29040572 8989333 Fdxr ferredoxin reductase gene DOID:9003451 Auditory Neuropathy and Optic Atrophy ISO RGD:734233 D RGD:7240710 20190315 OMIM 8989333 Fdxr ferredoxin reductase gene DOID:9003451 Auditory Neuropathy and Optic Atrophy ISO RGD:734233 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition PMID:24033266|PMID:25741868|PMID:28965846|PMID:29040572|PMID:30250212|PMID:6766943 8989333 Fdxr ferredoxin reductase gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:734233 D RGD:9068941 20230831 RGD mRNA:increased expression:leg blood vessel (human) PMID:22721676|REF_RGD_ID:401793723 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0050572 cone-rod dystrophy ISO RGD:1351534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:23847139|PMID:25741868|PMID:27735924|PMID:28492532|PMID:28559085 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0050817 Stargardt disease ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:30718709 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0110366 retinitis pigmentosa 33 ISO RGD:1351534 D RGD:7240710 20180130 OMIM 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:0110366 retinitis pigmentosa 33 ISO RGD:1351534 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 33 PMID:16612614|PMID:19710410|PMID:19878916|PMID:21618346|PMID:23029027|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24938718|PMID:24940031|PMID:25097241|PMID:25741868|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:29320387|PMID:30360737|PMID:30718709|PMID:31260034|PMID:31486839|PMID:33546218|PMID:34906470 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28166811|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:9536098 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:9536098 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31054281|PMID:9536098 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31054281|PMID:34906470|PMID:9536098 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:10584 retinitis pigmentosa ISO RGD:1351534 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16612614|PMID:17576681|PMID:19878916|PMID:21618346|PMID:23887765|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:26355662|PMID:26720483|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:30718709|PMID:31054281|PMID:34906470|PMID:36909829|PMID:9536098 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:1059 intellectual disability ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:5419 schizophrenia ISO RGD:1351534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:630 genetic disease ISO RGD:1351534 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8989355 Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 gene DOID:8501 fundus dystrophy ISO RGD:1351534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16612614|PMID:19878916|PMID:21618346|PMID:24302620|PMID:24319334|PMID:24499697|PMID:24516651|PMID:24940031|PMID:25741868|PMID:27208204|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:30360737|PMID:32037395|PMID:33429167|PMID:33576794 8989405 Sh2b2 SH2B adaptor protein 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8989405 Sh2b2 SH2B adaptor protein 2 gene DOID:630 genetic disease ISO RGD:736917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989445 S100a13 S100 calcium binding protein A13 gene DOID:0111940 immunodeficiency 42 ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8989445 S100a13 S100 calcium binding protein A13 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8989445 S100a13 S100 calcium binding protein A13 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1312636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8989445 S100a13 S100 calcium binding protein A13 gene DOID:1540 parathyroid carcinoma ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8989445 S100a13 S100 calcium binding protein A13 gene DOID:5812 MHC class II deficiency ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8989445 S100a13 S100 calcium binding protein A13 gene DOID:630 genetic disease ISO RGD:1312636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989445 S100a13 S100 calcium binding protein A13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8989480 Krt24 keratin 24 gene DOID:630 genetic disease ISO RGD:1349415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989492 Ncaph non-SMC condensin I complex subunit H gene DOID:0080600 COVID-19 ISO RGD:1352198 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8989492 Ncaph non-SMC condensin I complex subunit H gene DOID:1059 intellectual disability ISO RGD:1352198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8989492 Ncaph non-SMC condensin I complex subunit H gene DOID:3908 lung non-small cell carcinoma ISO RGD:1352198 D RGD:9068941 20220225 RGD protein:decreased expression:lung (human) PMID:32945371|REF_RGD_ID:151356931 8989492 Ncaph non-SMC condensin I complex subunit H gene DOID:5419 schizophrenia ISO RGD:1352198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8989492 Ncaph non-SMC condensin I complex subunit H gene DOID:630 genetic disease ISO RGD:1352198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989492 Ncaph non-SMC condensin I complex subunit H gene DOID:684 hepatocellular carcinoma ISO RGD:1352198 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8989492 Ncaph non-SMC condensin I complex subunit H gene DOID:9002582 Primary Autosomal Recessive Microcephaly 23 ISO RGD:1352198 D RGD:7240710 20190315 OMIM 8989492 Ncaph non-SMC condensin I complex subunit H gene DOID:9002582 Primary Autosomal Recessive Microcephaly 23 ISO RGD:1352198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive PMID:25741868|PMID:27737959 8989529 Iqcf6 IQ motif containing F6 gene DOID:630 genetic disease ISO RGD:2302686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989535 Sbk3 SH3 domain binding kinase family member 3 gene DOID:630 genetic disease ISO RGD:7386817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989543 Dmc1 DNA meiotic recombinase 1 gene DOID:0050457 Sertoli cell-only syndrome ISO RGD:1316905 D RGD:9068941 20220825 MouseDO OMIM:305700 | OMIM:400042 8989543 Dmc1 DNA meiotic recombinase 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8989543 Dmc1 DNA meiotic recombinase 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1316904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8989543 Dmc1 DNA meiotic recombinase 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1316904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8989543 Dmc1 DNA meiotic recombinase 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1316904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 8989543 Dmc1 DNA meiotic recombinase 1 gene DOID:14227 azoospermia ISO RGD:1316904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 8989543 Dmc1 DNA meiotic recombinase 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1316904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 8989543 Dmc1 DNA meiotic recombinase 1 gene DOID:630 genetic disease ISO RGD:1316904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989561 Dixdc1 DIX domain containing 1 gene DOID:0080533 Carney-Stratakis syndrome ISO RGD:1320498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carney-Stratakis syndrome PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532 8989561 Dixdc1 DIX domain containing 1 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1320498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:25966638|PMID:28492532 8989561 Dixdc1 DIX domain containing 1 gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:1320498 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A PMID:28492532 8989561 Dixdc1 DIX domain containing 1 gene DOID:0110450 dilated cardiomyopathy 1II ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1II PMID:28492532 8989561 Dixdc1 DIX domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8989561 Dixdc1 DIX domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8989561 Dixdc1 DIX domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 8989561 Dixdc1 DIX domain containing 1 gene DOID:1596 depressive disorder ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 8989561 Dixdc1 DIX domain containing 1 gene DOID:2030 anxiety disorder ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 8989561 Dixdc1 DIX domain containing 1 gene DOID:3312 bipolar disorder ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 8989561 Dixdc1 DIX domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1320498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27752079 8989561 Dixdc1 DIX domain containing 1 gene DOID:630 genetic disease ISO RGD:1320498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989561 Dixdc1 DIX domain containing 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8989561 Dixdc1 DIX domain containing 1 gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:1320498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 8989561 Dixdc1 DIX domain containing 1 gene DOID:9970 obesity ISO RGD:1320498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Obesity 8989607 Ccdc117 coiled-coil domain containing 117 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1602294 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8989607 Ccdc117 coiled-coil domain containing 117 gene DOID:630 genetic disease ISO RGD:1602294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989607 Ccdc117 coiled-coil domain containing 117 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1602294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8989621 Ankrd39 ankyrin repeat domain 39 gene DOID:1059 intellectual disability ISO RGD:1602717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8989621 Ankrd39 ankyrin repeat domain 39 gene DOID:5419 schizophrenia ISO RGD:1602717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8989621 Ankrd39 ankyrin repeat domain 39 gene DOID:630 genetic disease ISO RGD:1602717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989629 Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1313972 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8989629 Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1313972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8989629 Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:0111546 Currarino syndrome ISO RGD:1313972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8989629 Psmd2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 gene DOID:630 genetic disease ISO RGD:1313972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989657 Hkdc1 hexokinase domain containing 1 gene DOID:0050567 orofacial cleft ISO RGD:1354446 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip palate PMID:25741868|PMID:27229527 8989657 Hkdc1 hexokinase domain containing 1 gene DOID:2843 long QT syndrome ISO RGD:1354446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8989657 Hkdc1 hexokinase domain containing 1 gene DOID:630 genetic disease ISO RGD:1354446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989657 Hkdc1 hexokinase domain containing 1 gene DOID:9003318 Keratoconus 1 ISO RGD:1354446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 1 8989657 Hkdc1 hexokinase domain containing 1 gene DOID:9003467 Retinitis Pigmentosa 92 ISO RGD:1354446 D RGD:7240710 20211201 OMIM 8989657 Hkdc1 hexokinase domain containing 1 gene DOID:9003467 Retinitis Pigmentosa 92 ISO RGD:1354446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 92 PMID:30085091 8989657 Hkdc1 hexokinase domain containing 1 gene DOID:9007661 Dwarfism ISO RGD:1354446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8989680 LOC102025067 chromosome unknown open reading frame, human C18orf54 gene DOID:1059 intellectual disability ISO RGD:1348374 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8989694 Snai2 snail family transcriptional repressor 2 gene DOID:0111961 immunodeficiency 26 ISO RGD:735659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 8989694 Snai2 snail family transcriptional repressor 2 gene DOID:182 calcinosis ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358327 8989694 Snai2 snail family transcriptional repressor 2 gene DOID:3263 piebaldism ISO RGD:735659 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Partial albinism PMID:12444107|PMID:12955764|PMID:24033266|PMID:28492532|PMID:30936914|PMID:32975012 8989694 Snai2 snail family transcriptional repressor 2 gene DOID:3263 piebaldism susceptibility ISO RGD:735659 D RGD:9068941 20200609 RGD DNA:deletions PMID:12444107|REF_RGD_ID:1600041 8989694 Snai2 snail family transcriptional repressor 2 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 8989694 Snai2 snail family transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:735659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8989694 Snai2 snail family transcriptional repressor 2 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 8989694 Snai2 snail family transcriptional repressor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 8989694 Snai2 snail family transcriptional repressor 2 gene DOID:9002843 Waardenburg Syndrome Type 2 ISO RGD:735659 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2D PMID:12444107|PMID:32975012 8989694 Snai2 snail family transcriptional repressor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22580338 8989694 Snai2 snail family transcriptional repressor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:735659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11850205 8989694 Snai2 snail family transcriptional repressor 2 gene DOID:9258 Waardenburg syndrome ISO RGD:11321 D RGD:9068941 20230713 MouseDO 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:22954124|REF_RGD_ID:14700880 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:0050868 hepatocellular adenoma treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:23543859|REF_RGD_ID:14700918 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11406608 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1345007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:26703967|REF_RGD_ID:11573192 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26428356 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:28458161|REF_RGD_ID:14700881 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:25317811|REF_RGD_ID:14700871 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:10320 asbestosis ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte PMID:20514434|REF_RGD_ID:4892076 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:22957075|REF_RGD_ID:14700909 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:1168 familial hyperlipidemia ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:23002367|REF_RGD_ID:14700877 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:11981 morbid obesity ISO RGD:1345007 D RGD:9068941 20200609 RGD protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance PMID:12883487|REF_RGD_ID:1626305 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2475 D RGD:9068941 20230831 RGD mRNA, protein:increased expression:heart (rat) PMID:19889059|REF_RGD_ID:401794453 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:12689 acoustic neuroma ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:snp:promoter:c.-1053C>T (human) PMID:12540498|REF_RGD_ID:1358568 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:13938 amenorrhea ISO RGD:1345007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20843640 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:29404441|REF_RGD_ID:14700873 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:14330 Parkinson's disease ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16510128 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:1574 alcohol use disorder ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:29404485|REF_RGD_ID:14700911 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:1574 alcohol use disorder ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20843640 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:1574 alcohol use disorder ISO RGD:1345007 D RGD:9068941 20200609 RGD protein:increased expression:plasma, extracellular exosome PMID:29404485|REF_RGD_ID:14700911 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:1574 alcohol use disorder ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:23819932|REF_RGD_ID:14700915 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:1596 depressive disorder ISO RGD:2475 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:20595028|REF_RGD_ID:4892242 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:1852 intrahepatic cholestasis ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:29404441|REF_RGD_ID:14700873 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:2044 drug-induced hepatitis ISO RGD:2475 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:23619520|REF_RGD_ID:14700910 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:219 colon cancer treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:30720227|REF_RGD_ID:14700924 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:2841 asthma ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:17081494|REF_RGD_ID:4892220 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:2841 asthma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28807506 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:2841 asthma ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte PMID:20514434|REF_RGD_ID:4892076 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:299 adenocarcinoma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16142352 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:3021 acute kidney failure treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:24412858|PMID:24717297|REF_RGD_ID:14700914|REF_RGD_ID:14700920 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:3070 high grade glioma ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:snp:promoter:c.-1053C>T (human) PMID:12540498|REF_RGD_ID:1358568 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human) PMID:17442289|REF_RGD_ID:4892219 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:3525 middle cerebral artery infarction ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:23002367|REF_RGD_ID:14700877 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16142352 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:409 liver disease ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:20392357|REF_RGD_ID:4892216 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:409 liver disease ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:19352025|REF_RGD_ID:4892217 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:409 liver disease ISO RGD:2475 D RGD:9068941 20200609 RGD associated with familial hyperlipidemia and middle cerebral artery infarction PMID:23002367|REF_RGD_ID:14700877 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:409 liver disease no_association ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:5' utr (human) PMID:17950035|REF_RGD_ID:4892218 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:409 liver disease treatment ISO RGD:2475 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21425780|REF_RGD_ID:14700913 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:552 pneumonia ISO RGD:10451 D RGD:9068941 20200609 RGD protein:increased expression:alveolus, epithelial cell PMID:14698565|REF_RGD_ID:4892223 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:552 pneumonia ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15928955|REF_RGD_ID:4142512 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:630 genetic disease ISO RGD:1345007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15162526 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA, mRNA:SNP, Decreased expression:liver: rs2031920 (human) PMID:29765251|REF_RGD_ID:14700899 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:684 hepatocellular carcinoma ISO RGD:1345007 D RGD:9068941 20200609 RGD associated with alcohol dependence PMID:20364586|REF_RGD_ID:14700882 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:decreased expression:leukocyte PMID:20514434|REF_RGD_ID:4892076 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:850 lung disease ISO RGD:10451 D RGD:9068941 20200609 RGD Lung Injury PMID:8667236|REF_RGD_ID:4892222 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:8618 oral cavity cancer ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:16721740|REF_RGD_ID:14700978 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:29401608|REF_RGD_ID:14700887 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:29401608|REF_RGD_ID:14700887 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:25592162|PMID:29902864|REF_RGD_ID:14700893|REF_RGD_ID:14700894 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:30192013|REF_RGD_ID:14700906 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056438 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12771559 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9003936 Cardiomegaly ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9004009 Reperfusion Injury ISO RGD:2475 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:21094789|REF_RGD_ID:4892235 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9004484 Sepsis ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:15665729|REF_RGD_ID:5147745 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9005172 Lung Neoplasms ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1673675|PMID:17093202 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9005236 Drug Eruptions ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19351467 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:12700423|REF_RGD_ID:2313685 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2475 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, liver PMID:19406192|REF_RGD_ID:2313683 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9005749 Necrosis ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12086689|PMID:12566070 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9006302 Binge Drinking ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:25236742|REF_RGD_ID:14700891 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9006302 Binge Drinking ISO RGD:1345007 D RGD:9068941 20200609 RGD protein:increased expression, increased nitration PMID:25236742|REF_RGD_ID:14700891 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9006302 Binge Drinking ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:29404485|REF_RGD_ID:14700911 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9006411 Testicular Injury treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:27130490|REF_RGD_ID:14700916 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22156006 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18990727 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:24064383|PMID:25583360|REF_RGD_ID:14700870|REF_RGD_ID:14700884 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26428356 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9007188 Liver Neoplasms ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17093202 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9007329 Human Viral Hepatitis ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:20939108|REF_RGD_ID:14700885 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:10451 D RGD:9068941 20200609 RGD PMID:25681370|REF_RGD_ID:14700872 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12668988|PMID:16770646|PMID:21741958|PMID:28762043 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345007 D RGD:9068941 20200609 RGD PMID:29404441|REF_RGD_ID:14700873 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:27490558|REF_RGD_ID:14700879 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2475 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:27324775|REF_RGD_ID:14700878 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:27960551|REF_RGD_ID:14700901 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9007651 Chronic Bronchitis ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:14593914|REF_RGD_ID:4889126 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9008616 Patent Ductus Venosus ISO RGD:734432 D RGD:9068941 20200609 RGD PMID:24924401|REF_RGD_ID:14700900 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9008691 Liver Injury treatment ISO RGD:2475 D RGD:9068941 20200609 RGD PMID:24963944|REF_RGD_ID:14700896 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9256 colorectal cancer ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:SNP:rs3813867 (human) PMID:30489355|REF_RGD_ID:14700897 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9261 nasopharynx carcinoma ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:SNP: :rs2031920 (human) PMID:26582733|REF_RGD_ID:11061495 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10451 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:10679205|REF_RGD_ID:2313687 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte PMID:12534643|REF_RGD_ID:2313686 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2475 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:10049703|REF_RGD_ID:2313688 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9452 steatotic liver disease ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18952117 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9452 steatotic liver disease ISO RGD:1345007 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:reduced frequency of homozygotic C1 RFLP (PstI+, RsaI-) and increased frequency of C2 RFLP (PstI-,RsaI+) in Chinese patients PMID:14606109|REF_RGD_ID:1626302 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9452 steatotic liver disease ISO RGD:2475 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19404342|REF_RGD_ID:4892244 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1345007 D RGD:9068941 20200609 RGD mRNA:increased expression:leukocyte PMID:12743671|REF_RGD_ID:2313684 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11774269 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9970 obesity ISO RGD:1345007 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 8989701 LOC102026028 cytochrome P450 2E1 gene DOID:9970 obesity ISO RGD:2475 D RGD:9068941 20200609 RGD protein:increased activity:liver,fat PMID:17049493|REF_RGD_ID:1626307 8989734 Dytn dystrotelin gene DOID:14557 primary pulmonary hypertension ISO RGD:1606642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8989734 Dytn dystrotelin gene DOID:630 genetic disease ISO RGD:1606642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989734 Dytn dystrotelin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8989751 Ssh1 slingshot protein phosphatase 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 8989751 Ssh1 slingshot protein phosphatase 1 gene DOID:630 genetic disease ISO RGD:1345208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989751 Ssh1 slingshot protein phosphatase 1 gene DOID:9002514 Neointima ISO RGD:1306038 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery PMID:21868701|REF_RGD_ID:11535005 8989772 Rcan1 regulator of calcineurin 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735348 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8989772 Rcan1 regulator of calcineurin 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:735348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8989772 Rcan1 regulator of calcineurin 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:735348 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8989772 Rcan1 regulator of calcineurin 1 gene DOID:0110648 long QT syndrome 6 ISO RGD:735348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:21626672|PMID:28492532 8989772 Rcan1 regulator of calcineurin 1 gene DOID:10652 Alzheimer's disease ISO RGD:735348 D RGD:9068941 20200609 RGD PMID:11483593|REF_RGD_ID:1580889 8989772 Rcan1 regulator of calcineurin 1 gene DOID:12858 Huntington's disease ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270310 8989772 Rcan1 regulator of calcineurin 1 gene DOID:14250 Down syndrome ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15906378 8989772 Rcan1 regulator of calcineurin 1 gene DOID:1588 thrombocytopenia ISO RGD:735348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:32581362 8989772 Rcan1 regulator of calcineurin 1 gene DOID:1682 congenital heart disease ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15906378 8989772 Rcan1 regulator of calcineurin 1 gene DOID:630 genetic disease ISO RGD:735348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989772 Rcan1 regulator of calcineurin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8989772 Rcan1 regulator of calcineurin 1 gene DOID:7148 rheumatoid arthritis ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 8989772 Rcan1 regulator of calcineurin 1 gene DOID:9003178 Familial Platelet Disorder with Associated Myeloid Malignancy ISO RGD:735348 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome PMID:32581362 8989772 Rcan1 regulator of calcineurin 1 gene DOID:9003936 Cardiomegaly ISO RGD:631338 D RGD:9068941 20200609 RGD PMID:12124198|REF_RGD_ID:625605 8989772 Rcan1 regulator of calcineurin 1 gene DOID:9003936 Cardiomegaly ISO RGD:731330 D RGD:9068941 20200609 RGD PMID:12515860|REF_RGD_ID:734902 8989772 Rcan1 regulator of calcineurin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:735348 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15906378 8989805 Swap70 switching B cell complex subunit SWAP70 gene DOID:630 genetic disease ISO RGD:1604631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989837 Hint2 histidine triad nucleotide binding protein 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8989837 Hint2 histidine triad nucleotide binding protein 2 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1318948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8989837 Hint2 histidine triad nucleotide binding protein 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318948 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8989837 Hint2 histidine triad nucleotide binding protein 2 gene DOID:0080942 anauxetic dysplasia ISO RGD:1318948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8989837 Hint2 histidine triad nucleotide binding protein 2 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1318948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8989837 Hint2 histidine triad nucleotide binding protein 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8989837 Hint2 histidine triad nucleotide binding protein 2 gene DOID:630 genetic disease ISO RGD:1318948 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989837 Hint2 histidine triad nucleotide binding protein 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318948 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8989837 Hint2 histidine triad nucleotide binding protein 2 gene DOID:9870 galactosemia ISO RGD:1318948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8989846 Dnajb3 DnaJ heat shock protein family (Hsp40) member B3 gene DOID:0060476 Perlman syndrome ISO RGD:1602396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8989846 Dnajb3 DnaJ heat shock protein family (Hsp40) member B3 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1602396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8989846 Dnajb3 DnaJ heat shock protein family (Hsp40) member B3 gene DOID:630 genetic disease ISO RGD:1602396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989851 Galk2 galactokinase 2 gene DOID:2717 Bloom syndrome ISO RGD:1318611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8989851 Galk2 galactokinase 2 gene DOID:630 genetic disease ISO RGD:1318611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989851 Galk2 galactokinase 2 gene DOID:9256 colorectal cancer ISO RGD:1318611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8989873 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8989873 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1351009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 8989873 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 8989873 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:0081097 Rafiq syndrome ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 8989873 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:1059 intellectual disability ISO RGD:1351009 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8989873 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1351009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 8989873 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:3652 Leigh disease ISO RGD:1351009 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 8989873 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1351009 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8989873 Ralgds ral guanine nucleotide dissociation stimulator gene DOID:630 genetic disease ISO RGD:1351009 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989915 Tdg thymine DNA glycosylase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1346610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8989915 Tdg thymine DNA glycosylase gene DOID:630 genetic disease ISO RGD:1346610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989915 Tdg thymine DNA glycosylase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1617602 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland tumor (mouse) PMID:9794235|REF_RGD_ID:2317355 8989934 Impact impact RWD domain protein gene DOID:1059 intellectual disability ISO RGD:1605062 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8989934 Impact impact RWD domain protein gene DOID:630 genetic disease ISO RGD:1605062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050576 Senior-Loken syndrome ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Renal-retinal syndrome PMID:18414213|PMID:21258341|PMID:24876116|PMID:25741868|PMID:26940125|PMID:28492532|PMID:29127259|PMID:33532864 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33532864|PMID:9536098 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1344161 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:15133511|PMID:16199547|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:22773737|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24033266|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26068938|PMID:26294094|PMID:26489029|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:32173348|PMID:33323469|PMID:33532864|PMID:33547761|PMID:33875766|PMID:9536098 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14738421|PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:18414213|PMID:21258341|PMID:24876116|PMID:25741868|PMID:26940125|PMID:28492532|PMID:29127259|PMID:33532864 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1344161 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0110088 asphyxiating thoracic dystrophy 4 ISO RGD:1344161 D RGD:7240710 20180130 OMIM 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0110088 asphyxiating thoracic dystrophy 4 ISO RGD:1344161 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY PMID:16199547|PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26294094|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:33532864|PMID:36263627|PMID:9536098 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:18327258|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:27491411|PMID:28492532|PMID:29068549 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0110124 Bardet-Biedl syndrome 2 ISO RGD:1344161 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 PMID:18327258|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:27491411|PMID:28492532|PMID:29068549|PMID:36263627 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:21258341|PMID:24033266|PMID:25741868|PMID:28492532 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0111112 nephronophthisis 1 ISO RGD:1344161 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0111113 nephronophthisis 2 ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 2, infantile PMID:16199547|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0111119 nephronophthisis 12 ISO RGD:1344161 D RGD:7240710 20180130 OMIM 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0111119 nephronophthisis 12 ISO RGD:1344161 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephronophthisis 12 PMID:16199547|PMID:17576681|PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:22773737|PMID:23559409|PMID:24033266|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26294094|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864|PMID:9536098 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14738421|PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23195492|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:1184 nephrotic syndrome ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:18414213|PMID:21258341|PMID:24876116|PMID:25741868|PMID:26940125|PMID:28492532|PMID:29127259|PMID:32173348|PMID:33532864 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:12712 nephronophthisis ISO RGD:1344161 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18414213|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26068938|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:30655312|PMID:33532864 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1344161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:2975 cystic kidney disease ISO RGD:1557198 D RGD:9068941 20220825 MouseDO 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:303 substance-related disorder ISO RGD:1344161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:557 kidney disease ISO RGD:1344161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258341 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:630 genetic disease ISO RGD:1344161 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:65 connective tissue disease ISO RGD:1344161 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:21258341|PMID:24033266|PMID:25741868|PMID:28492532 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:65 connective tissue disease ISO RGD:1344161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:21258341|PMID:24033266|PMID:25741868|PMID:26489029|PMID:28492532 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:784 chronic kidney disease ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:24033266|PMID:25741868|PMID:28492532 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:8501 fundus dystrophy ISO RGD:1344161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18327258|PMID:18414213|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:26940125|PMID:27491411|PMID:28492532|PMID:29068549|PMID:29127259|PMID:33532864 8989949 Ttc21b tetratricopeptide repeat domain 21B gene DOID:9249 Beemer-Langer syndrome ISO RGD:1344161 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:18327258|PMID:21068128|PMID:21258341|PMID:23559409|PMID:24876116|PMID:25492405|PMID:25741868|PMID:27491411|PMID:28492532|PMID:29068549 8989982 Tpd52 tumor protein D52 gene DOID:630 genetic disease ISO RGD:1315573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8989982 Tpd52 tumor protein D52 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17875733|PMID:27415467 8989982 Tpd52 tumor protein D52 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1315573 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8990003 Snx3 sorting nexin 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1345268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8990003 Snx3 sorting nexin 3 gene DOID:0080600 COVID-19 ISO RGD:1345268 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8990003 Snx3 sorting nexin 3 gene DOID:630 genetic disease ISO RGD:1345268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990010 Phykpl 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 8990010 Phykpl 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1602671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8990010 Phykpl 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:14748 Sotos syndrome ISO RGD:1602671 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8990010 Phykpl 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:630 genetic disease ISO RGD:1602671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990010 Phykpl 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:9003537 Phosphohydroxylysinuria ISO RGD:1602671 D RGD:7240710 20180130 OMIM 8990010 Phykpl 5-phosphohydroxy-L-lysine phospho-lyase gene DOID:9003537 Phosphohydroxylysinuria ISO RGD:1602671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphohydroxylysinuria PMID:23242558 8990026 Pdcd10 programmed cell death 10 gene DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies ISO RGD:1351056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies PMID:28492532 8990026 Pdcd10 programmed cell death 10 gene DOID:0060669 cerebral cavernous malformation ISO RGD:1351056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation PMID:15543491|PMID:18035376|PMID:18300272|PMID:23485406|PMID:23595507|PMID:23801932|PMID:25741868|PMID:26896283|PMID:28492532 8990026 Pdcd10 programmed cell death 10 gene DOID:0060671 cerebral cavernous malformation 3 ISO RGD:1351056 D RGD:7240710 20180130 OMIM 8990026 Pdcd10 programmed cell death 10 gene DOID:0060671 cerebral cavernous malformation 3 ISO RGD:1351056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3 PMID:15543491|PMID:16199547|PMID:16329096|PMID:17576681|PMID:18035376|PMID:18060436|PMID:18300272|PMID:23485406|PMID:23595507|PMID:23801932|PMID:24466005|PMID:24689081|PMID:25122144|PMID:25354366|PMID:25741868|PMID:26246098|PMID:26896283|PMID:28492532|PMID:30161288|PMID:9536098 8990026 Pdcd10 programmed cell death 10 gene DOID:0060671 cerebral cavernous malformation 3 exacerbates ISO RGD:1351056 D RGD:9068941 20230921 RGD DNA:mutations:multiple (human) PMID:25122144|REF_RGD_ID:401827114 8990026 Pdcd10 programmed cell death 10 gene DOID:0060671 cerebral cavernous malformation 3 onset ISO RGD:1351056 D RGD:9068941 20230921 RGD DNA:mutations:multiple (human) PMID:17041941|REF_RGD_ID:401827115 8990026 Pdcd10 programmed cell death 10 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1351056 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain PMID:16329096|PMID:17576681|PMID:24466005|PMID:25122144|PMID:25741868|PMID:28492532|PMID:9536098 8990026 Pdcd10 programmed cell death 10 gene DOID:0080491 cerebral cavernous malformation 1 ISO RGD:1351056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral cavernous malformation 1 PMID:25741868 8990026 Pdcd10 programmed cell death 10 gene DOID:12337 varicocele ISO RGD:1359329 D RGD:9068941 20230928 RGD protein:increased expression:testis (rat) PMID:19647235|REF_RGD_ID:401827162 8990026 Pdcd10 programmed cell death 10 gene DOID:1826 epilepsy ISO RGD:1351056 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Seizure PMID:16329096|PMID:17576681|PMID:24466005|PMID:25122144|PMID:25741868|PMID:28492532|PMID:9536098 8990026 Pdcd10 programmed cell death 10 gene DOID:2237 hepatitis ISO RGD:1351056 D RGD:9068941 20230921 RGD protein:increased expression:liver (human) PMID:32186778|REF_RGD_ID:401827111 8990026 Pdcd10 programmed cell death 10 gene DOID:2870 endometrial adenocarcinoma disease_progression ISO RGD:1351056 D RGD:9068941 20230921 RGD protein:increased expression:endometrium (human) PMID:32186778|REF_RGD_ID:401827111 8990026 Pdcd10 programmed cell death 10 gene DOID:483 cavernous hemangioma ISO RGD:1351056 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cavernous hemangioma PMID:16329096|PMID:17576681|PMID:24466005|PMID:25122144|PMID:25741868|PMID:28492532|PMID:9536098 8990026 Pdcd10 programmed cell death 10 gene DOID:5082 liver cirrhosis ISO RGD:1351056 D RGD:9068941 20230921 RGD protein:increased expression:liver (human) PMID:32186778|REF_RGD_ID:401827111 8990026 Pdcd10 programmed cell death 10 gene DOID:630 genetic disease ISO RGD:1351056 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24689081|PMID:28492532 8990026 Pdcd10 programmed cell death 10 gene DOID:686 liver carcinoma ISO RGD:1351056 D RGD:9068941 20230921 RGD protein:increased expression:liver (human) PMID:32186778|REF_RGD_ID:401827111 8990026 Pdcd10 programmed cell death 10 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1359329 D RGD:9068941 20230928 RGD protein:decreased expression:brain, microglial cell (rat) PMID:32302649|REF_RGD_ID:401827168 8990026 Pdcd10 programmed cell death 10 gene DOID:9002079 Paresis ISO RGD:1351056 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hemiparesis PMID:16329096|PMID:17576681|PMID:24466005|PMID:25122144|PMID:25741868|PMID:28492532|PMID:9536098 8990026 Pdcd10 programmed cell death 10 gene DOID:9007701 Central Nervous System Neoplasms ISO RGD:1351056 D RGD:9068941 20230921 RGD multiple dural lesions associated with cerebral cavernous malformation 3;DNA:nonsense mutation, splice site mutations, deletion:CDS, intron:multiple (human) PMID:19506228|REF_RGD_ID:401827110 8990038 Selp selectin P gene DOID:0060180 colitis ISO RGD:3656 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19147805|REF_RGD_ID:2312310 8990038 Selp selectin P gene DOID:0060903 thrombosis ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10544909 8990038 Selp selectin P gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:19451746|REF_RGD_ID:2312307 8990038 Selp selectin P gene DOID:0112313 brain small vessel disease ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:20885295|REF_RGD_ID:6296592 8990038 Selp selectin P gene DOID:10247 pleurisy ISO RGD:734150 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21147071|REF_RGD_ID:6219005 8990038 Selp selectin P gene DOID:10247 pleurisy ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 8990038 Selp selectin P gene DOID:10652 Alzheimer's disease severity ISO RGD:737162 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:21484243|REF_RGD_ID:5685677 8990038 Selp selectin P gene DOID:10763 hypertension ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15513305 8990038 Selp selectin P gene DOID:10923 sickle cell anemia ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:21071696|REF_RGD_ID:6219007 8990038 Selp selectin P gene DOID:1205 allergic disease ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12929084 8990038 Selp selectin P gene DOID:12894 Sjogren's syndrome ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19832990|REF_RGD_ID:6478702 8990038 Selp selectin P gene DOID:13378 Kawasaki disease ISO RGD:737162 D RGD:9068941 20200609 RGD PMID:20079717|REF_RGD_ID:6478695 8990038 Selp selectin P gene DOID:1540 parathyroid carcinoma ISO RGD:737162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8990038 Selp selectin P gene DOID:1596 depressive disorder ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25451969 8990038 Selp selectin P gene DOID:1936 atherosclerosis ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:22340239|REF_RGD_ID:6480102 8990038 Selp selectin P gene DOID:1936 atherosclerosis ISO RGD:734150 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:19834105|REF_RGD_ID:6478699 8990038 Selp selectin P gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:20646456|REF_RGD_ID:6478682 8990038 Selp selectin P gene DOID:326 ischemia ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:21885854|REF_RGD_ID:6218989 8990038 Selp selectin P gene DOID:3310 atopic dermatitis ISO RGD:737162 D RGD:9068941 20200609 RGD atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu PMID:12929084|REF_RGD_ID:1599904 8990038 Selp selectin P gene DOID:3393 coronary artery disease ISO RGD:737162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature coronary artery atherosclerosis 8990038 Selp selectin P gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:21894146|REF_RGD_ID:6218988 8990038 Selp selectin P gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:737162 D RGD:9068941 20200609 RGD PMID:22156911|REF_RGD_ID:6218986 8990038 Selp selectin P gene DOID:5844 myocardial infarction ISO RGD:3656 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21567088|REF_RGD_ID:6218991 8990038 Selp selectin P gene DOID:5844 myocardial infarction ISO RGD:737162 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotypes:cds:p.S290N, p.N562D, p.T715P (human) PMID:12165563|REF_RGD_ID:1580075 8990038 Selp selectin P gene DOID:5844 myocardial infarction ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21162967|REF_RGD_ID:6219003 8990038 Selp selectin P gene DOID:5844 myocardial infarction susceptibility ISO RGD:737162 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:plasma PMID:17391113|REF_RGD_ID:2312304 8990038 Selp selectin P gene DOID:6000 congestive heart failure ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:19193626|REF_RGD_ID:2312309 8990038 Selp selectin P gene DOID:630 genetic disease ISO RGD:737162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990038 Selp selectin P gene DOID:676 juvenile rheumatoid arthritis severity ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21124648|REF_RGD_ID:6219006 8990038 Selp selectin P gene DOID:8577 ulcerative colitis ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21526498|REF_RGD_ID:6218993 8990038 Selp selectin P gene DOID:8805 intermediate coronary syndrome ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21162967|REF_RGD_ID:6219003 8990038 Selp selectin P gene DOID:9000528 Coronary Disease ISO RGD:737162 D RGD:9068941 20200609 RGD protein:altered expression:serum PMID:11597943|REF_RGD_ID:1580074 8990038 Selp selectin P gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737162 D RGD:9068941 20200609 RGD atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu PMID:12929084|REF_RGD_ID:1599904 8990038 Selp selectin P gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3656 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow PMID:19333758|REF_RGD_ID:2312308 8990038 Selp selectin P gene DOID:9002165 Diabetic Nephropathies ISO RGD:3656 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney, serum PMID:18471420|REF_RGD_ID:2312294 8990038 Selp selectin P gene DOID:9002165 Diabetic Nephropathies severity ISO RGD:737162 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18026823|REF_RGD_ID:2312302 8990038 Selp selectin P gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25451969 8990038 Selp selectin P gene DOID:9002395 Hypothermia ISO RGD:734150 D RGD:9068941 20230831 RGD protein:increased expression: red pulp of spleen PMID:31237986|REF_RGD_ID:401794437 8990038 Selp selectin P gene DOID:9002514 Neointima treatment ISO RGD:3656 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:12377736|REF_RGD_ID:729766 8990038 Selp selectin P gene DOID:9002850 Immediate Hypersensitivity ISO RGD:737162 D RGD:9068941 20200609 RGD atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu PMID:12929084|REF_RGD_ID:1599904 8990038 Selp selectin P gene DOID:9003505 Venous Thromboembolism ISO RGD:737162 D RGD:9068941 20200609 RGD associated with HIV Infections;protein:increased expression:plasma PMID:21412059|REF_RGD_ID:6219001 8990038 Selp selectin P gene DOID:9004009 Reperfusion Injury ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:18521901|REF_RGD_ID:2312314 8990038 Selp selectin P gene DOID:9004009 Reperfusion Injury ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:21701413|REF_RGD_ID:6218990 8990038 Selp selectin P gene DOID:9004484 Sepsis ISO RGD:734150 D RGD:9068941 20200609 RGD protein:increased expression:multiple PMID:20690979|REF_RGD_ID:6478679 8990038 Selp selectin P gene DOID:9005125 Lupus Vasculitis, Central Nervous System ISO RGD:737162 D RGD:9068941 20200609 RGD PMID:20179168|REF_RGD_ID:6478687 8990038 Selp selectin P gene DOID:9005372 Inflammation ISO RGD:734150 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix, vagina PMID:22391529|REF_RGD_ID:6480101 8990038 Selp selectin P gene DOID:9006262 Cytomegalovirus Infections ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:21457388|REF_RGD_ID:6219000 8990038 Selp selectin P gene DOID:9006646 Metabolic Syndrome ISO RGD:737162 D RGD:9068941 20200609 RGD PMID:19061719|REF_RGD_ID:2312292 8990038 Selp selectin P gene DOID:9006709 Primary Graft Dysfunction ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28569748 8990038 Selp selectin P gene DOID:9007096 Stroke ISO RGD:734150 D RGD:9068941 20200609 RGD PMID:20122276|REF_RGD_ID:6478688 8990038 Selp selectin P gene DOID:9007102 Myocardial Ischemia ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8990038 Selp selectin P gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:737162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8990038 Selp selectin P gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3656 D RGD:9068941 20200609 RGD PMID:21146547|REF_RGD_ID:6480105 8990038 Selp selectin P gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:737162 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12087064 8990038 Selp selectin P gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8990038 Selp selectin P gene DOID:9352 type 2 diabetes mellitus ISO RGD:737162 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17598012|REF_RGD_ID:2312303 8990038 Selp selectin P gene DOID:9970 obesity ISO RGD:737162 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:altered localization:platelet PMID:19228864|REF_RGD_ID:2312291 8990059 Creb3l3 cAMP responsive element binding protein 3 like 3 gene DOID:13938 amenorrhea ISO RGD:1317760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8990059 Creb3l3 cAMP responsive element binding protein 3 like 3 gene DOID:630 genetic disease ISO RGD:1317760 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21666694|PMID:28106320|PMID:28492532 8990059 Creb3l3 cAMP responsive element binding protein 3 like 3 gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:1317760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia 1 PMID:21666694|PMID:25741868|PMID:28492532|PMID:31619059|PMID:32041611 8990059 Creb3l3 cAMP responsive element binding protein 3 like 3 gene DOID:9003618 HYPERTRIGLYCERIDEMIA 2 ISO RGD:1317760 D RGD:7240710 20210818 OMIM 8990059 Creb3l3 cAMP responsive element binding protein 3 like 3 gene DOID:9003618 HYPERTRIGLYCERIDEMIA 2 ISO RGD:1317760 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia 2 PMID:21666694|PMID:25741868|PMID:26427795|PMID:28492532 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:0060903 thrombosis ISO RGD:731461 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25339356 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:731461 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:10763 hypertension ISO RGD:3049 D RGD:9068941 20200609 RGD associated with Sleep Apnea Syndromes PMID:21040717|REF_RGD_ID:5129169 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:12236 primary biliary cholangitis ISO RGD:3049 D RGD:9068941 20200609 RGD PMID:17532087|REF_RGD_ID:9685452 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:3049 D RGD:9068941 20200609 RGD PMID:22120037|REF_RGD_ID:8549486 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:1686 glaucoma treatment ISO RGD:3049 D RGD:9068941 20200609 RGD PMID:23702784|REF_RGD_ID:9685447 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:6000 congestive heart failure ISO RGD:3049 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:21963897|REF_RGD_ID:8549482 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:630 genetic disease ISO RGD:731461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:784 chronic kidney disease treatment ISO RGD:3049 D RGD:9068941 20230824 RGD PMID:24614509|REF_RGD_ID:401793742 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:3049 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:3049 D RGD:9068941 20230817 RGD associated with maternal adenine induced chronic kidney disease PMID:32604820|REF_RGD_ID:401793718 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3049 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:19793108|REF_RGD_ID:2316776 8990077 Mas1 MAS1 proto-oncogene, G protein-coupled receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3049 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:18679036|REF_RGD_ID:2313799 8990080 Tdrd1 tudor domain containing 1 gene DOID:630 genetic disease ISO RGD:1314584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990146 Slco1a2 solute carrier organic anion transporter family member 1A2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:621389 D RGD:9068941 20200609 RGD PMID:14731123|REF_RGD_ID:1598620 8990146 Slco1a2 solute carrier organic anion transporter family member 1A2 gene DOID:13580 cholestasis treatment ISO RGD:621389 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 8990146 Slco1a2 solute carrier organic anion transporter family member 1A2 gene DOID:630 genetic disease ISO RGD:1607085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990146 Slco1a2 solute carrier organic anion transporter family member 1A2 gene DOID:9452 steatotic liver disease ISO RGD:621389 D RGD:9068941 20200609 RGD PMID:16139386|REF_RGD_ID:1598602 8990182 Syt1 synaptotagmin 1 gene DOID:0050888 syndromic intellectual disability ISO RGD:736944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:30107533 8990182 Syt1 synaptotagmin 1 gene DOID:11832 visual epilepsy ISO RGD:3803 D RGD:9068941 20200609 RGD PMID:8872307|REF_RGD_ID:730127 8990182 Syt1 synaptotagmin 1 gene DOID:630 genetic disease ISO RGD:736944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15456828|PMID:21338883|PMID:25705886|PMID:25741868|PMID:30107533|PMID:32362337|PMID:35101335 8990182 Syt1 synaptotagmin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: SYT1-associated neurodevelopmental disorder PMID:25705886|PMID:25712080|PMID:25741868|PMID:30107533|PMID:32362337|PMID:35101335 8990182 Syt1 synaptotagmin 1 gene DOID:9008596 Baker-Gordon Syndrome ISO RGD:736944 D RGD:7240710 20190315 OMIM 8990182 Syt1 synaptotagmin 1 gene DOID:9008596 Baker-Gordon Syndrome ISO RGD:736944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BAKER-GORDON SYNDROME | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENT AND ABNORMAL ELECTROENCEPHALOGRAM PMID:25705886|PMID:25712080|PMID:25741868|PMID:30107533|PMID:32362337|PMID:35101335 8990206 Rnf152 ring finger protein 152 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1313171 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8990206 Rnf152 ring finger protein 152 gene DOID:630 genetic disease ISO RGD:1313171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990220 Polr2m RNA polymerase II subunit M gene DOID:2717 Bloom syndrome ISO RGD:731440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8990220 Polr2m RNA polymerase II subunit M gene DOID:630 genetic disease ISO RGD:731440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990220 Polr2m RNA polymerase II subunit M gene DOID:9256 colorectal cancer ISO RGD:731440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8990249 Cgnl1 cingulin like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1353387 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8990249 Cgnl1 cingulin like 1 gene DOID:2717 Bloom syndrome ISO RGD:1353387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8990249 Cgnl1 cingulin like 1 gene DOID:630 genetic disease ISO RGD:1353387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990249 Cgnl1 cingulin like 1 gene DOID:9256 colorectal cancer ISO RGD:1353387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8990272 Peak1 pseudopodium enriched atypical kinase 1 gene DOID:2717 Bloom syndrome ISO RGD:7374592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8990272 Peak1 pseudopodium enriched atypical kinase 1 gene DOID:5419 schizophrenia ISO RGD:7374592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8990272 Peak1 pseudopodium enriched atypical kinase 1 gene DOID:630 genetic disease ISO RGD:7374592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990272 Peak1 pseudopodium enriched atypical kinase 1 gene DOID:9256 colorectal cancer ISO RGD:7374592 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8990296 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ISO RGD:1318871 D RGD:7240710 20180130 OMIM 8990296 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ISO RGD:1318871 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay PMID:16199547|PMID:17576681|PMID:24033266|PMID:25193871|PMID:25652405|PMID:25741868|PMID:2649490|PMID:26494905|PMID:27370603|PMID:27389523|PMID:27531075|PMID:28492532|PMID:29055896|PMID:29358286|PMID:29454993|PMID:29610179|PMID:30758723|PMID:31019026|PMID:31338833|PMID:31664448|PMID:32371413|PMID:32592741|PMID:33332575|PMID:33646446|PMID:33936027|PMID:34510712|PMID:9536098 8990296 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:0081178 autosomal recessive intellectual developmental disorder 2 ISO RGD:1318871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2 PMID:10932263|PMID:15557513|PMID:18414909|PMID:23983124|PMID:24088041|PMID:24993823|PMID:26633545|PMID:28143899|PMID:28492532 8990296 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:630 genetic disease ISO RGD:1318871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25652405|PMID:25741868|PMID:27389523|PMID:27531075|PMID:28492532|PMID:29358286|PMID:30758723 8990296 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:9002040 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS ISO RGD:1318871 D RGD:7240710 20190315 OMIM 8990296 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:9002040 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS ISO RGD:1318871 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and erythrocytic microcytosis PMID:24033266|PMID:25193871|PMID:25652405|PMID:25741868|PMID:26494905|PMID:27389523|PMID:27531075|PMID:28492532|PMID:29358286|PMID:29610179|PMID:30758723|PMID:31338833|PMID:31664448|PMID:32371413|PMID:32592741|PMID:33332575|PMID:33646446|PMID:34510712 8990296 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8990296 Trnt1 tRNA nucleotidyl transferase 1 gene DOID:9538 multiple myeloma ISO RGD:1318871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8990314 Prdm12 PR/SET domain 12 gene DOID:0070153 hereditary sensory and autonomic neuropathy type 8 ISO RGD:1351660 D RGD:7240710 20180130 OMIM 8990314 Prdm12 PR/SET domain 12 gene DOID:0070153 hereditary sensory and autonomic neuropathy type 8 ISO RGD:1351660 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HSAN VIII | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VIII PMID:16199547|PMID:17576681|PMID:25741868|PMID:25891934|PMID:26005867|PMID:28050684|PMID:28492532|PMID:32409124|PMID:32828702|PMID:33884296|PMID:9536098 8990314 Prdm12 PR/SET domain 12 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1351660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8990314 Prdm12 PR/SET domain 12 gene DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K ISO RGD:1351660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:28492532 8990314 Prdm12 PR/SET domain 12 gene DOID:630 genetic disease ISO RGD:1351660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 8990314 Prdm12 PR/SET domain 12 gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:1351660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26005867 8990314 Prdm12 PR/SET domain 12 gene DOID:9273 citrullinemia ISO RGD:1351660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 8990329 Nid1 nidogen 1 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:737172 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 8990329 Nid1 nidogen 1 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:737172 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 8990329 Nid1 nidogen 1 gene DOID:1540 parathyroid carcinoma ISO RGD:737172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8990329 Nid1 nidogen 1 gene DOID:630 genetic disease ISO RGD:737172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990329 Nid1 nidogen 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8990329 Nid1 nidogen 1 gene DOID:9002079 Paresis ISO RGD:737172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemiparesis PMID:25558065 8990329 Nid1 nidogen 1 gene DOID:9004657 Weight Gain ISO RGD:737172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 8990329 Nid1 nidogen 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8990354 Cluap1 clusterin associated protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8990354 Cluap1 clusterin associated protein 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1354421 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532|PMID:28679688 8990354 Cluap1 clusterin associated protein 1 gene DOID:0111705 oculoectodermal syndrome ISO RGD:1354421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome PMID:26820066 8990354 Cluap1 clusterin associated protein 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1354421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:26820066 8990354 Cluap1 clusterin associated protein 1 gene DOID:1826 epilepsy ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8990354 Cluap1 clusterin associated protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1354421 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8990354 Cluap1 clusterin associated protein 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1354421 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8990354 Cluap1 clusterin associated protein 1 gene DOID:630 genetic disease ISO RGD:1354421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8990388 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:0060470 salt and pepper syndrome ISO RGD:1346095 D RGD:7240710 20190315 OMIM 8990388 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:0060470 salt and pepper syndrome ISO RGD:1346095 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency PMID:15502825|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22990144|PMID:23436467|PMID:24026681|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26649472|PMID:27232954|PMID:28492532|PMID:28726809|PMID:28976722|PMID:30576498|PMID:32404165|PMID:33486335|PMID:34906476|PMID:9536098 8990388 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1346095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 8990388 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1346095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868 8990388 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:1826 epilepsy ISO RGD:1346095 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8990388 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:630 genetic disease ISO RGD:1346095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:30576498|PMID:32404165|PMID:34906476 8990388 St3gal5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:1346095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:28492532 8990404 Coq10b coenzyme Q10B gene DOID:630 genetic disease ISO RGD:1604595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990404 Coq10b coenzyme Q10B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:0050451 Brugada syndrome ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22584458|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31737537|PMID:31980526|PMID:32695137 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:0050700 cardiomyopathy ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:0110219 Brugada syndrome 2 ISO RGD:1345791 D RGD:7240710 20180130 OMIM 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:0110219 Brugada syndrome 2 ISO RGD:1345791 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 2 PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31737537|PMID:31980526|PMID:32695137 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:2843 long QT syndrome ISO RGD:1345791 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11839626|PMID:15140536|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:31618753|PMID:32695137 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1345791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:5419 schizophrenia ISO RGD:1345791 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:630 genetic disease ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1345791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:11839626|PMID:15140536|PMID:16199547|PMID:17967976|PMID:17967977|PMID:19606473|PMID:19666841|PMID:19745168|PMID:19815826|PMID:20724705|PMID:22584458|PMID:22995991|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:26743238|PMID:27435932|PMID:27930701|PMID:28008009|PMID:28492532|PMID:28798025|PMID:28837624|PMID:29077258|PMID:29247119|PMID:29714131|PMID:30662450|PMID:30847666|PMID:31043699|PMID:31618753|PMID:31980526|PMID:32695137 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:9006030 Infant Death ISO RGD:1345791 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:11839626|PMID:17967977|PMID:19666841|PMID:19745168|PMID:20724705|PMID:22995991|PMID:23414114|PMID:24033266|PMID:25741868|PMID:26743238|PMID:27435932|PMID:28008009|PMID:28492532|PMID:28798025|PMID:31618753|PMID:32695137 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:9007 sudden infant death syndrome ISO RGD:1345791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:15140536|PMID:17967976|PMID:19606473|PMID:19815826|PMID:22995991|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24715918|PMID:25741868|PMID:25998140|PMID:28492532|PMID:28837624 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:9007925 Sudden Cardiac Death ISO RGD:1345791 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:23861362|PMID:25741868|PMID:27930701|PMID:28492532 8990412 Gpd1l glycerol-3-phosphate dehydrogenase 1 like gene DOID:9452 steatotic liver disease ISO RGD:1345791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 8990427 Nectin4 nectin cell adhesion molecule 4 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1347607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8990427 Nectin4 nectin cell adhesion molecule 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1347607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8990427 Nectin4 nectin cell adhesion molecule 4 gene DOID:630 genetic disease ISO RGD:1347607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8990427 Nectin4 nectin cell adhesion molecule 4 gene DOID:9002370 Ectodermal Dysplasia-Syndactyly Syndrome 1 ISO RGD:1347607 D RGD:7240710 20180130 OMIM 8990427 Nectin4 nectin cell adhesion molecule 4 gene DOID:9002370 Ectodermal Dysplasia-Syndactyly Syndrome 1 ISO RGD:1347607 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 PMID:20691405|PMID:21346770|PMID:24577405|PMID:25529316|PMID:25741868|PMID:28492532 8990427 Nectin4 nectin cell adhesion molecule 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0050563 nonsyndromic deafness ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness PMID:25633957 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0060465 fibrochondrogenesis ISO RGD:1350403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1350403 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:1350403 D RGD:7240710 20180130 OMIM 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:10677296|PMID:15558753|PMID:15922184|PMID:16637051|PMID:17576681|PMID:21204229|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386|PMID:32747562|PMID:7859284|PMID:9188673|PMID:9536098 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0080046 Stickler syndrome ISO RGD:1350403 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:15922184|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:25741868|PMID:28492532 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0080672 fibrochondrogenesis 1 ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:24033266|PMID:25741868|PMID:28492532 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0080673 fibrochondrogenesis 2 ISO RGD:1350403 D RGD:7240710 20180130 OMIM 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0080673 fibrochondrogenesis 2 ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 2 PMID:10677296|PMID:15558753|PMID:15922184|PMID:17576681|PMID:21204229|PMID:22246659|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386|PMID:9536098 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:1350403 D RGD:7240710 20180130 OMIM 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant ISO RGD:1350403 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia PMID:10677296|PMID:14234962|PMID:15372529|PMID:15558753|PMID:15922184|PMID:17576681|PMID:21204229|PMID:22938506|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:25780254|PMID:26467025|PMID:26691295|PMID:26969326|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386|PMID:33297549|PMID:33348901|PMID:7833911|PMID:7859284|PMID:9506662|PMID:9536098|PMID:9805126 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0110509 autosomal recessive nonsyndromic deafness 53 ISO RGD:1350403 D RGD:7240710 20180130 OMIM 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0110509 autosomal recessive nonsyndromic deafness 53 ISO RGD:1350403 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 53 PMID:10677296|PMID:15558753|PMID:16033917|PMID:21204229|PMID:22246659|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29456477|PMID:30311386|PMID:31299979|PMID:31680349|PMID:33111345 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0110545 autosomal dominant nonsyndromic deafness 13 ISO RGD:1350403 D RGD:7240710 20180130 OMIM 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0110545 autosomal dominant nonsyndromic deafness 13 ISO RGD:1350403 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 13 PMID:10581026|PMID:10677296|PMID:15372529|PMID:15558753|PMID:21204229|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:26969326|PMID:28492532|PMID:33105617|PMID:35802133|PMID:36633841 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:0110914 infantile hypophosphatasia ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:28492532 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:10003 sensorineural hearing loss ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:1059 intellectual disability ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:1222 cartilage disease ISO RGD:1350403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11668593 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:14250 Down syndrome ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Complete trisomy 21 syndrome PMID:28492532|PMID:30311386 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:1682 congenital heart disease ISO RGD:1350403 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:10677296|PMID:21204229|PMID:22246659|PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29456477|PMID:31299979|PMID:31680349|PMID:33111345 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:2256 osteochondrodysplasia susceptibility ISO RGD:1350403 D RGD:9068941 20200609 RGD otospondylomegaepiphyseal dysplasia, OMIM:215150;DNA:mutations PMID:10677296|REF_RGD_ID:1600883 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:3081 cystic lymphangioma ISO RGD:1350403 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cystic hygroma PMID:10677296|PMID:21204229|PMID:22246659|PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29456477|PMID:31299979|PMID:31680349|PMID:33111345 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1350403 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome PMID:10677296|PMID:15372529|PMID:15558753|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1350403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome PMID:10677296|PMID:15372529|PMID:15558753|PMID:21204229|PMID:23967202|PMID:24033266|PMID:25633957|PMID:25741868|PMID:26969326|PMID:28492532 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:630 genetic disease ISO RGD:1350403 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26691295|PMID:28492532|PMID:30311386 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:65 connective tissue disease ISO RGD:1350403 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:23967202|PMID:24033266|PMID:25240749|PMID:25633957|PMID:25741868|PMID:26467025|PMID:26691295|PMID:27068579|PMID:28492532|PMID:28692176|PMID:30311386 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:674 cleft palate ISO RGD:1350403 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :multiple PMID:20672350|REF_RGD_ID:12436724 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:674 cleft palate ISO RGD:1350403 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :rs3129208 (human) PMID:22112025|REF_RGD_ID:12904711 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:8501 fundus dystrophy ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:9003816 Macrocephaly ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:24033266|PMID:28492532 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:9004538 Hearing Loss ISO RGD:1350403 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:16033917|PMID:17576681|PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532|PMID:30311386|PMID:33229591|PMID:9536098 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:9006294 Congenital Limb Deformities ISO RGD:1350403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16637051 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:9007661 Dwarfism ISO RGD:12245456 D RGD:9068941 20210604 OMIA Skeletal dysplasia 2, COL11A2-related PMID:23527306 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1350403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:28492532 8990441 Col11a2 collagen type XI alpha 2 chain gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1350403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16637051 8990513 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 8990513 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:0080205 CAKUT ISO RGD:1604165 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:28492532|PMID:30143558 8990513 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604165 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8990513 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:14780 KBG syndrome ISO RGD:1604165 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 8990513 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:630 genetic disease ISO RGD:1604165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8990513 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 8990513 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8990513 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1604165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 8990513 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9006205 Animal Disease Models ISO RGD:1604165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 8990513 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1604165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 8990513 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9009244 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome ISO RGD:1604165 D RGD:7240710 20190315 OMIM 8990513 Ctu2 cytosolic thiouridylase subunit 2 gene DOID:9009244 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome ISO RGD:1604165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome PMID:25081361|PMID:25741868|PMID:26633546|PMID:27480277|PMID:28492532|PMID:31301155 8990532 LOC102026979 cytochrome b5 type B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:735287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8990532 LOC102026979 cytochrome b5 type B gene DOID:630 genetic disease ISO RGD:735287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:732909 D RGD:9068941 20220624 RGD mRNA:increased expression:blood plasma (human) PMID:31874165|REF_RGD_ID:152995482 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942926 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:0050700 cardiomyopathy ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12556562 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:0060319 cardiac arrest ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:20363892|REF_RGD_ID:5509101 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:0081002 Cowden syndrome 6 ISO RGD:732909 D RGD:7240710 20180704 OMIM 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:0081002 Cowden syndrome 6 ISO RGD:732909 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cowden syndrome 6 PMID:16199547|PMID:17576681|PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23246288|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23884910|PMID:23934607|PMID:24190505|PMID:24657128|PMID:24728327|PMID:25157968|PMID:25741868|PMID:26619011|PMID:27854218|PMID:28166811|PMID:28459198|PMID:28492532|PMID:28655553|PMID:31792197|PMID:9536098 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25658812 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:732909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cholangiocyte PMID:24498161|REF_RGD_ID:10040950 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:732909 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:10283 prostate cancer severity ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, intron: (rs1130214, rs2494738) (human) PMID:21430300|REF_RGD_ID:5509093 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:735336 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:cerebral cortex PMID:18023354|REF_RGD_ID:5509085 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:10763 hypertension ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:23323219|REF_RGD_ID:10041025 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:11054 urinary bladder cancer ISO RGD:732909 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18190825|REF_RGD_ID:2291891 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:1245 vulva cancer severity ISO RGD:732909 D RGD:9068941 20200924 RGD associated with Papillomavirus Infections PMID:22685591|REF_RGD_ID:38676500 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:13482 Proteus syndrome ISO RGD:732909 D RGD:7240710 20180130 OMIM 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:13482 Proteus syndrome ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:introns:multiple (human) PMID:18395980|REF_RGD_ID:5509076 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:14330 Parkinson's disease ISO RGD:732909 D RGD:9068941 20200609 RGD protein:altered expression:brain PMID:19800394|REF_RGD_ID:5509074 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:14330 Parkinson's disease no_association ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs:introns:multiple (human) PMID:21741444|REF_RGD_ID:5509064 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:1520 colon carcinoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colon carcinoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:1612 breast cancer ISO RGD:732909 D RGD:7240710 20180711 OMIM 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:1612 breast cancer ISO RGD:732909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:1612 breast cancer ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:732909 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:1793 pancreatic cancer severity ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased phosphorylation:pancreas (human) PMID:20697673|REF_RGD_ID:13450953 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:1793 pancreatic cancer treatment ISO RGD:732909 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:11595724|REF_RGD_ID:13452388 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:1826 epilepsy ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20064661 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:1875 impotence treatment ISO RGD:2081 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:1909 melanoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24265152|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:1936 atherosclerosis severity ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:18054314|REF_RGD_ID:5509083 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:219 colon cancer ISO RGD:732909 D RGD:9068941 20220623 RGD human cells in mouse model PMID:31932471|REF_RGD_ID:152995462 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:219 colon cancer severity ISO RGD:732909 D RGD:9068941 20220623 RGD mRNA:increased expression:colon (human) PMID:31932471|REF_RGD_ID:152995462 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:219 colon cancer treatment ISO RGD:2081 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:2316 brain ischemia ISO RGD:2081 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:cerebral cortex PMID:21596097|REF_RGD_ID:5509066 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:2394 ovarian cancer ISO RGD:732909 D RGD:7240710 20190213 OMIM 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:2394 ovarian cancer susceptibility ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:point mutation:cds:p.E17K (human) PMID:17611497|REF_RGD_ID:1643334 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of prostate PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:732909 D RGD:9068941 20200609 RGD PMID:20638364|REF_RGD_ID:13504677 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:732909 D RGD:9068941 20200924 RGD DNA:SNP,haplotype:intron: IVS3+18 C/C (human) PMID:20141546|REF_RGD_ID:38676498 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:299 adenocarcinoma ISO RGD:732909 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:33129824 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:missense mutation:p.E17K (human) PMID:18392055|REF_RGD_ID:13209138 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3068 glioblastoma ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:10802656|REF_RGD_ID:734543 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD PMID:19240976|REF_RGD_ID:5509079 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3312 bipolar disorder ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :multiple (human) PMID:20214684|REF_RGD_ID:5509071 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:735336 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:18273716|REF_RGD_ID:5509081 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3347 osteosarcoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Osteosarcoma, somatic PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3376 bone osteosarcoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3393 coronary artery disease ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:18054314|REF_RGD_ID:5509083 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3458 breast adenocarcinoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3565 meningioma ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334667 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:732909 D RGD:9068941 20220630 RGD protein:increased expression:esophagus (human) PMID:32642408|REF_RGD_ID:152995512 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:732909 D RGD:9068941 20220224 RGD human cells in mouse model PMID:32276600|REF_RGD_ID:151357000 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732909 D RGD:9068941 20210910 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:kidney PMID:17681738|REF_RGD_ID:1643331 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5041 esophageal cancer ISO RGD:732909 D RGD:9068941 20220630 RGD protein:increased expression:esophagus (human) PMID:27188433|REF_RGD_ID:152995510 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5199 ureteral obstruction ISO RGD:2081 D RGD:9068941 20200609 RGD PMID:22085202|REF_RGD_ID:10041001 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5409 lung small cell carcinoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Small cell lung cancer PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5411 lung oat cell carcinoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14745448|PMID:15982448|PMID:17915974|PMID:21187413 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD PMID:14745448|REF_RGD_ID:1358369 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron: (rs2494734) (human) PMID:20921115|REF_RGD_ID:5509070 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiple PMID:20214684|REF_RGD_ID:5509071 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:multiple PMID:17825267|REF_RGD_ID:5509088 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:732909 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:hippocampus, dentate gyrus, neuron PMID:21049487|REF_RGD_ID:5509068 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5419 schizophrenia ISO RGD:735336 D RGD:9068941 20220825 MouseDO OMIM:181500 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5844 myocardial infarction ISO RGD:2081 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:heart PMID:20352476|REF_RGD_ID:10041035 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:5844 myocardial infarction ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:platelet PMID:20467748|REF_RGD_ID:5509094 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:607 paraplegia ISO RGD:2081 D RGD:9068941 20200609 RGD mRNA:decreased expression:soleus PMID:18236467|REF_RGD_ID:5509082 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:732909 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27854218|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:670 amphetamine abuse ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15982448 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2081 D RGD:9068941 20220520 RGD PMID:25999787|PMID:31801250|REF_RGD_ID:151893509|REF_RGD_ID:152177911 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:7575 pancreatic intraductal papillary-mucinous neoplasm ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E17K (human) PMID:24132918|REF_RGD_ID:13462042 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:767 muscular atrophy ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18467435 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased phosphorylation:blood PMID:17900686|REF_RGD_ID:13674160 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:8646 substance-induced psychosis ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21041608 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:8719 in situ carcinoma ISO RGD:732909 D RGD:9068941 20200609 RGD ductal carcinoma in situ;protein:increased phosphorylation:breast PMID:16341149|REF_RGD_ID:1643333 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:platelet PMID:20467748|REF_RGD_ID:5509094 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:8923 skin melanoma ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:8947 diabetic retinopathy ISO RGD:2081 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2081 D RGD:9068941 20200609 RGD PMID:20678995|REF_RGD_ID:10040962 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9000099 Experimental Colitis treatment ISO RGD:2081 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9000641 Pain ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17084039 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9000784 Fibrosis ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:736689 D RGD:9068941 20200609 RGD PMID:19124556|REF_RGD_ID:5509080 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9000998 Brain Injuries ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain, neuron PMID:16234845|REF_RGD_ID:5509090 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9000998 Brain Injuries ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain, neuron PMID:16234845|REF_RGD_ID:5509090 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9001049 Staphylococcal Pneumonia treatment ISO RGD:735336 D RGD:9068941 20200924 RGD PMID:23613163|REF_RGD_ID:38676477 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9002221 Hyperplasia ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20530298 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:732909 D RGD:9068941 20200609 RGD clear cell sarcoma of kidney;protein:increased serine phosphorylation:kidney PMID:17646270|REF_RGD_ID:1643332 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Prostate neoplasm PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2081 D RGD:9068941 20200609 RGD PMID:22391142|REF_RGD_ID:10041007 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9002514 Neointima ISO RGD:735336 D RGD:9068941 20230427 RGD PMID:25751394|REF_RGD_ID:329328927 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Uterine cervical neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9003936 Cardiomegaly ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:12237475|REF_RGD_ID:734544 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:21351045|REF_RGD_ID:5509067 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9004397 Calcification of Aortic Valve ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23308213 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21351258 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9004610 Acute Lung Injury severity ISO RGD:735336 D RGD:9068941 20200924 RGD PMID:23904165|REF_RGD_ID:38676478 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12511591|PMID:21911043|PMID:22619562 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:17210696|REF_RGD_ID:2315600 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9005369 Hepatomegaly ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9005372 Inflammation ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315|PMID:26297436 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9005372 Inflammation ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:19622728|REF_RGD_ID:5509095 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9005372 Inflammation severity ISO RGD:735336 D RGD:9068941 20200924 RGD associated with Staphylococcal Infections PMID:23904165|REF_RGD_ID:38676478 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2081 D RGD:9068941 20200609 RGD protein:decreased serine phosphorylation:cornea PMID:21330660|REF_RGD_ID:5131482 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cortex of kidney PMID:18599524|REF_RGD_ID:8657153 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9005930 Endotoxemia ISO RGD:2081 D RGD:9068941 20200924 RGD PMID:22824368|REF_RGD_ID:38676479 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9006086 Intervertebral Disc Displacement disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD PMID:21590431|REF_RGD_ID:5509092 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2081 D RGD:9068941 20200609 RGD PMID:21357504|REF_RGD_ID:10041003 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9006205 Animal Disease Models ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:25658812|PMID:32045588 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9006361 Macrocephaly Mesodermal Hamartoma Spectrum ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Elattoproteus syndrome PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:735336 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9007096 Stroke disease_progression ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:19440551|REF_RGD_ID:5509077 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9007166 Meningeal Neoplasms ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Meningeal Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9007702 Carcinogenesis ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:heart left ventricle PMID:20217242|REF_RGD_ID:5509104 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9008023 Memory Disorders treatment ISO RGD:735336 D RGD:9068941 20240104 RGD PMID:29157831|REF_RGD_ID:401940181 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732909 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:point mutation:cds:p.E17K (human) PMID:17611497|REF_RGD_ID:1643334 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:732909 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer ISO RGD:732909 D RGD:7240710 20200226 OMIM 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer ameliorates ISO RGD:732909 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:732909 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:colon PMID:21425139|REF_RGD_ID:13209139 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:732909 D RGD:9068941 20200609 RGD DNA:point mutation:cds:p.E17K (human) PMID:17611497|REF_RGD_ID:1643334 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2081 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:vascular associated smooth muscle cell PMID:19052261|REF_RGD_ID:2313556 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735336 D RGD:9068941 20200609 RGD PMID:19289493|REF_RGD_ID:2311130 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2081 D RGD:9068941 20200924 RGD PMID:24735788|REF_RGD_ID:39128151 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9452 steatotic liver disease ISO RGD:732909 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32045588 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9505 cannabis abuse ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21041608 8990541 Akt1 AKT serine/threonine kinase 1 gene DOID:9970 obesity ISO RGD:732909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23954404 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1319167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:1319167 D RGD:9068941 20200609 RGD PMID:14871982|REF_RGD_ID:2293530 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:1319168 D RGD:9068941 20220825 MouseDO OMIM:188570 | OMIM:274300 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:1459 hypothyroidism ISO RGD:1309046 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:11850121|REF_RGD_ID:2306463 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:2871 endometrial carcinoma ISO RGD:1319167 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:14751175|REF_RGD_ID:2298984 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:289 endometriosis ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:3459 breast carcinoma severity ISO RGD:1319167 D RGD:9068941 20200609 RGD PMID:17902051|REF_RGD_ID:2293529 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:630 genetic disease ISO RGD:1319167 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21080969 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12237244 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21080969 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1319167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20332317 8990563 Ncoa1 nuclear receptor coactivator 1 gene DOID:9970 obesity ISO RGD:1319168 D RGD:9068941 20220825 MouseDO OMIM:601665 8990598 Faslg Fas ligand gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:15148335|REF_RGD_ID:11049166 8990598 Faslg Fas ligand gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Biliary Tract Disease;protein:decreased expression:serum PMID:15287856|REF_RGD_ID:2317742 8990598 Faslg Fas ligand gene DOID:0050625 biliary tract benign neoplasm ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15138553|REF_RGD_ID:2317743 8990598 Faslg Fas ligand gene DOID:0050700 cardiomyopathy ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324756|PMID:17943461 8990598 Faslg Fas ligand gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:bone marrow: PMID:9557605|REF_RGD_ID:11049447 8990598 Faslg Fas ligand gene DOID:0050908 myelodysplastic syndrome ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:decreased expression:peripheral blood mononuclear cell: PMID:15686130|REF_RGD_ID:11049448 8990598 Faslg Fas ligand gene DOID:0060108 brain glioma treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29324390|REF_RGD_ID:13792598 8990598 Faslg Fas ligand gene DOID:0060500 drug allergy ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 8990598 Faslg Fas ligand gene DOID:0081267 graft-versus-host disease ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:9404931|REF_RGD_ID:11049160 8990598 Faslg Fas ligand gene DOID:0081267 graft-versus-host disease ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:10452880|REF_RGD_ID:14700681 8990598 Faslg Fas ligand gene DOID:10591 pre-eclampsia susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:SNP:intron:124A>G(rs5030772)(human) PMID:30066360|REF_RGD_ID:14700669 8990598 Faslg Fas ligand gene DOID:10808 gastric ulcer treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29339218|REF_RGD_ID:13792597 8990598 Faslg Fas ligand gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-844T>C PMID:16538171|REF_RGD_ID:2290063 8990598 Faslg Fas ligand gene DOID:11713 diabetic angiopathy ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 8990598 Faslg Fas ligand gene DOID:11713 diabetic angiopathy ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:15803113|REF_RGD_ID:2315753 8990598 Faslg Fas ligand gene DOID:127 leiomyoma ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:18000229|REF_RGD_ID:2292498 8990598 Faslg Fas ligand gene DOID:12858 Huntington's disease ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:decreased expression:putamen,caudate: PMID:11054182|REF_RGD_ID:12903948 8990598 Faslg Fas ligand gene DOID:12930 dilated cardiomyopathy ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17943461 8990598 Faslg Fas ligand gene DOID:13133 HELLP syndrome ISO RGD:3880 D RGD:9068941 20200609 RGD protein:altered expression:blood, placenta, liver: PMID:28501275|REF_RGD_ID:14700673 8990598 Faslg Fas ligand gene DOID:13133 HELLP syndrome susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:SNP:intron:124A>G(rs5030772)(human) PMID:30066360|REF_RGD_ID:14700669 8990598 Faslg Fas ligand gene DOID:1324 lung cancer ISO RGD:1606342 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic PMID:17605793|PMID:25741868|PMID:28492532 8990598 Faslg Fas ligand gene DOID:1324 lung cancer susceptibility ISO RGD:1606342 D RGD:7240710 20240320 OMIM 8990598 Faslg Fas ligand gene DOID:13767 clonorchiasis ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18427836|REF_RGD_ID:2315733 8990598 Faslg Fas ligand gene DOID:13767 clonorchiasis ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18427836|REF_RGD_ID:2315733 8990598 Faslg Fas ligand gene DOID:13809 familial combined hyperlipidemia ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15063428 8990598 Faslg Fas ligand gene DOID:14330 Parkinson's disease ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:decreased expression:neurones of the substantia nigra pars: PMID:11054182|REF_RGD_ID:12903948 8990598 Faslg Fas ligand gene DOID:14330 Parkinson's disease ISO RGD:3880 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra pars compacta, striatum (rat) PMID:17959308|REF_RGD_ID:2290172 8990598 Faslg Fas ligand gene DOID:1485 cystic fibrosis ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:10567629|REF_RGD_ID:12904024 8990598 Faslg Fas ligand gene DOID:1540 parathyroid carcinoma ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8990598 Faslg Fas ligand gene DOID:1577 limited scleroderma ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:17102953|REF_RGD_ID:12903974 8990598 Faslg Fas ligand gene DOID:1793 pancreatic cancer ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:11115536|REF_RGD_ID:2317745 8990598 Faslg Fas ligand gene DOID:1793 pancreatic cancer resistance ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-844>>T (human) PMID:18483392|REF_RGD_ID:2315744 8990598 Faslg Fas ligand gene DOID:1793 pancreatic cancer severity ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:12370548|REF_RGD_ID:2317744 8990598 Faslg Fas ligand gene DOID:1909 melanoma ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16487513 8990598 Faslg Fas ligand gene DOID:1909 melanoma susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:promoter:-844C>T,IVS2nt-124A>G(human) PMID:16538172|REF_RGD_ID:12903985 8990598 Faslg Fas ligand gene DOID:1936 atherosclerosis ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15063428 8990598 Faslg Fas ligand gene DOID:2043 hepatitis B ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:12526294|REF_RGD_ID:14700675 8990598 Faslg Fas ligand gene DOID:2048 autoimmune hepatitis treatment ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:28551553|REF_RGD_ID:14700710 8990598 Faslg Fas ligand gene DOID:2237 hepatitis ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706026 8990598 Faslg Fas ligand gene DOID:2237 hepatitis severity ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:28406481|REF_RGD_ID:14401591 8990598 Faslg Fas ligand gene DOID:2316 brain ischemia ISO RGD:3880 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18410517|REF_RGD_ID:2311437 8990598 Faslg Fas ligand gene DOID:2377 multiple sclerosis ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:repeat:promoter:g.-46(CA)11-15 (human) PMID:11438180|REF_RGD_ID:1358622 8990598 Faslg Fas ligand gene DOID:2377 multiple sclerosis ISO RGD:1606342 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 8990598 Faslg Fas ligand gene DOID:2519 testicular disease ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429229 8990598 Faslg Fas ligand gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:12470426|PMID:12651606|REF_RGD_ID:2290076|REF_RGD_ID:2290077 8990598 Faslg Fas ligand gene DOID:303 substance-related disorder ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:15644446|REF_RGD_ID:1358616 8990598 Faslg Fas ligand gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29208459|REF_RGD_ID:13792601 8990598 Faslg Fas ligand gene DOID:3407 carotid artery disease ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15063428 8990598 Faslg Fas ligand gene DOID:3457 invasive lobular carcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10640988|REF_RGD_ID:2290134 8990598 Faslg Fas ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:10547193|REF_RGD_ID:2317747 8990598 Faslg Fas ligand gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, liver PMID:15375495|REF_RGD_ID:2317741 8990598 Faslg Fas ligand gene DOID:3908 lung non-small cell carcinoma ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21807637 8990598 Faslg Fas ligand gene DOID:409 liver disease treatment ISO RGD:3880 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29852394|REF_RGD_ID:13792574 8990598 Faslg Fas ligand gene DOID:4440 seminoma ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:testis PMID:17916181|REF_RGD_ID:2290049 8990598 Faslg Fas ligand gene DOID:4450 renal cell carcinoma ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:11435457|PMID:17641033|REF_RGD_ID:2290051|REF_RGD_ID:2290132 8990598 Faslg Fas ligand gene DOID:4928 intrahepatic cholangiocarcinoma severity ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:11003620|REF_RGD_ID:14700701 8990598 Faslg Fas ligand gene DOID:4947 cholangiocarcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:11029528|REF_RGD_ID:2317746 8990598 Faslg Fas ligand gene DOID:6000 congestive heart failure treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29746994|REF_RGD_ID:13792577 8990598 Faslg Fas ligand gene DOID:630 genetic disease ISO RGD:1606342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8990598 Faslg Fas ligand gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1606342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:16627752|PMID:17576681|PMID:17605793|PMID:21368861|PMID:22857792|PMID:25451160|PMID:25741868|PMID:26334989|PMID:26456038|PMID:28492532|PMID:8787672|PMID:9536098 8990598 Faslg Fas ligand gene DOID:6688 autoimmune lymphoproliferative syndrome susceptibility ISO RGD:1606342 D RGD:7240710 20240320 OMIM 8990598 Faslg Fas ligand gene DOID:684 hepatocellular carcinoma ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:11274632|REF_RGD_ID:14700677 8990598 Faslg Fas ligand gene DOID:7148 rheumatoid arthritis ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 8990598 Faslg Fas ligand gene DOID:7693 abdominal aortic aneurysm ISO RGD:3880 D RGD:9068941 20201002 RGD protein:increased expression:aorta (rat) PMID:15238617|REF_RGD_ID:1302825 8990598 Faslg Fas ligand gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: -844 T>C(human) PMID:26563376|REF_RGD_ID:11049146 8990598 Faslg Fas ligand gene DOID:8568 infectious mononucleosis ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte, serum: PMID:11185989|REF_RGD_ID:11049152 8990598 Faslg Fas ligand gene DOID:8577 ulcerative colitis treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:30122878|REF_RGD_ID:13792562 8990598 Faslg Fas ligand gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:17433060|REF_RGD_ID:2290052 8990598 Faslg Fas ligand gene DOID:9000011 Gallbladder Neoplasms disease_progression ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:gallbladder PMID:15968727|REF_RGD_ID:2317739 8990598 Faslg Fas ligand gene DOID:9000117 Esophageal Neoplasms ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:esophageal mucosa: PMID:9605741|REF_RGD_ID:11049151 8990598 Faslg Fas ligand gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:decreased expression:breast PMID:17352235|REF_RGD_ID:2290053 8990598 Faslg Fas ligand gene DOID:9001553 Spinal Cord Compression ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:21490053|REF_RGD_ID:12904017 8990598 Faslg Fas ligand gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:21490053|REF_RGD_ID:12904017 8990598 Faslg Fas ligand gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:18561025|REF_RGD_ID:14700680 8990598 Faslg Fas ligand gene DOID:9002165 Diabetic Nephropathies ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney PMID:17851466|REF_RGD_ID:2315705 8990598 Faslg Fas ligand gene DOID:9002231 Fetal Growth Retardation ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with protein:increased expression:serum: PMID:16169656|REF_RGD_ID:12904025 8990598 Faslg Fas ligand gene DOID:9002231 Fetal Growth Retardation severity ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:amniotic fluid: PMID:23582102|REF_RGD_ID:12903972 8990598 Faslg Fas ligand gene DOID:9002283 Experimental Allergic Asthma treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29713367|REF_RGD_ID:13792581 8990598 Faslg Fas ligand gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17875776 8990598 Faslg Fas ligand gene DOID:9002371 Cardiotoxicity ISO RGD:1553064 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34713381 8990598 Faslg Fas ligand gene DOID:9002371 Cardiotoxicity ISO RGD:1606342 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34713381 8990598 Faslg Fas ligand gene DOID:9002395 Hypothermia ISO RGD:3880 D RGD:9068941 20200609 RGD associated with Brain Ischemia PMID:18410517|REF_RGD_ID:2311437 8990598 Faslg Fas ligand gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:22354915|REF_RGD_ID:7204500 8990598 Faslg Fas ligand gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:10944459|REF_RGD_ID:12903984 8990598 Faslg Fas ligand gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:17102953|REF_RGD_ID:12903974 8990598 Faslg Fas ligand gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1606342 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections PMID:17433060|REF_RGD_ID:2290052 8990598 Faslg Fas ligand gene DOID:9004058 Immunodeficiency 98 with Autoinflammation, X-Linked ISO RGD:1606342 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked PMID:28492532 8990598 Faslg Fas ligand gene DOID:9004283 Transplant Rejection ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:10357921|REF_RGD_ID:14700698 8990598 Faslg Fas ligand gene DOID:9004484 Sepsis ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:17899301|REF_RGD_ID:2290175 8990598 Faslg Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1553064 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:18946736|REF_RGD_ID:14700674 8990598 Faslg Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19505222 8990598 Faslg Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, lymphocyte, serum: PMID:10950056|REF_RGD_ID:14700697 8990598 Faslg Fas ligand gene DOID:9004590 Acute Liver Failure ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16279913|REF_RGD_ID:14401578 8990598 Faslg Fas ligand gene DOID:9004610 Acute Lung Injury ISO RGD:1606342 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11778176 8990598 Faslg Fas ligand gene DOID:9004779 Autoimmune Lymphoproliferative Syndrome, Type IB ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b PMID:25741868|PMID:8787672 8990598 Faslg Fas ligand gene DOID:9005172 Lung Neoplasms ISO RGD:1606342 D RGD:9068941 20240118 CTD CTD Direct Evidence: marker/mechanism 8990598 Faslg Fas ligand gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3880 D RGD:9068941 20200609 RGD protein:increased expression:heart ventricle PMID:19820199|REF_RGD_ID:2314021 8990598 Faslg Fas ligand gene DOID:9005749 Necrosis ISO RGD:1553064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15664267 8990598 Faslg Fas ligand gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29285062|REF_RGD_ID:13792599 8990598 Faslg Fas ligand gene DOID:9006741 Acute Hepatitis ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:10950056|REF_RGD_ID:14700697 8990598 Faslg Fas ligand gene DOID:9006741 Acute Hepatitis ISO RGD:3880 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11290807|REF_RGD_ID:14401580 8990598 Faslg Fas ligand gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:1553064 D RGD:9068941 20200609 RGD protein:increased expression:Kupffer cell: PMID:15797225|REF_RGD_ID:14700708 8990598 Faslg Fas ligand gene DOID:9007558 Acute Experimental Pancreatitis severity ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:15797225|REF_RGD_ID:14700708 8990598 Faslg Fas ligand gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8990598 Faslg Fas ligand gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:29170412|REF_RGD_ID:13792603 8990598 Faslg Fas ligand gene DOID:9008691 Liver Injury treatment ISO RGD:1553064 D RGD:9068941 20200609 RGD PMID:11698468|REF_RGD_ID:14401579 8990598 Faslg Fas ligand gene DOID:9008939 Breast Neoplasms ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:10640988|REF_RGD_ID:2290134 8990598 Faslg Fas ligand gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-844T>C PMID:17183065|REF_RGD_ID:2290054 8990598 Faslg Fas ligand gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8990598 Faslg Fas ligand gene DOID:9352 type 2 diabetes mellitus ISO RGD:1606342 D RGD:9068941 20200609 RGD DNA:repeats:3' utr (human) PMID:16691186|REF_RGD_ID:2315750 8990598 Faslg Fas ligand gene DOID:9538 multiple myeloma disease_progression ISO RGD:1606342 D RGD:9068941 20200609 RGD PMID:16321857|REF_RGD_ID:11049149 8990598 Faslg Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606342 D RGD:9068941 20200609 RGD mRNA:decreased expression:lymphocyte PMID:16180659|REF_RGD_ID:2315751 8990598 Faslg Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:1606342 D RGD:9068941 20200609 RGD protein:increased expression:lymphocyte PMID:19120316|REF_RGD_ID:2315742 8990598 Faslg Fas ligand gene DOID:9744 type 1 diabetes mellitus ISO RGD:3880 D RGD:9068941 20200609 RGD PMID:17324464|REF_RGD_ID:2315748 8990611 Trpm8 transient receptor potential cation channel subfamily M member 8 gene DOID:0060476 Perlman syndrome ISO RGD:732182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8990611 Trpm8 transient receptor potential cation channel subfamily M member 8 gene DOID:0110991 Joubert syndrome 22 ISO RGD:732182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8990611 Trpm8 transient receptor potential cation channel subfamily M member 8 gene DOID:12783 migraine without aura ISO RGD:732182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683712 8990611 Trpm8 transient receptor potential cation channel subfamily M member 8 gene DOID:630 genetic disease ISO RGD:732182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990611 Trpm8 transient receptor potential cation channel subfamily M member 8 gene DOID:6364 migraine ISO RGD:732182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666692 8990641 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1317663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8990641 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0110155 Charcot-Marie-Tooth disease type 2A2A ISO RGD:1317663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A PMID:23141293|PMID:25326637|PMID:25741868|PMID:25860818|PMID:26141459|PMID:28492532|PMID:29752936|PMID:29858556|PMID:32303640|PMID:32695416|PMID:32768327 8990641 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q ISO RGD:1317663 D RGD:7240710 20180130 OMIM 8990641 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q ISO RGD:1317663 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q PMID:16199547|PMID:23141293|PMID:23141294|PMID:25326637|PMID:25741868|PMID:25860818|PMID:28492532|PMID:29669943 8990641 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ISO RGD:1317663 D RGD:7240710 20180130 OMIM 8990641 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:0111453 2-aminoadipic 2-oxoadipic aciduria ISO RGD:1317663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria | ClinVar Annotator: match by term: ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA | ClinVar Annotator: match by term: DHTKD1-related condition PMID:16199547|PMID:17576681|PMID:23141293|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25860818|PMID:26141459|PMID:28454995|PMID:28492532|PMID:28902413|PMID:29127259|PMID:29669943|PMID:29752936|PMID:29858556|PMID:30896807|PMID:32005694|PMID:32303640|PMID:32633484|PMID:32695416|PMID:32768327|PMID:32860008|PMID:33369814|PMID:34169998|PMID:35052424|PMID:35897808|PMID:8069629|PMID:9536098 8990641 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:1184 nephrotic syndrome ISO RGD:1317663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28492532|PMID:29127259 8990641 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:574 peripheral nervous system disease ISO RGD:1317663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 8990641 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:630 genetic disease ISO RGD:1317663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23141293|PMID:25326637|PMID:25741868|PMID:25860818|PMID:26141459|PMID:28454995|PMID:28492532|PMID:28902413|PMID:29752936|PMID:29858556|PMID:32303640|PMID:32695416|PMID:32768327|PMID:32860008|PMID:33369814|PMID:35052424|PMID:8069629|PMID:9536098 8990641 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:870 neuropathy ISO RGD:1317663 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 8990641 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317663 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8990641 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 gene DOID:9004551 Charcot-Marie-Tooth Disease Type 2A2 ISO RGD:1317663 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 PMID:23141293|PMID:23141294|PMID:25326637|PMID:25741868|PMID:25860818|PMID:26141459|PMID:28492532|PMID:29752936|PMID:29858556|PMID:32303640|PMID:32695416|PMID:32768327 8990662 Lsm10 LSM10, U7 small nuclear RNA associated gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1350873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8990662 Lsm10 LSM10, U7 small nuclear RNA associated gene DOID:0111406 Fraser syndrome 3 ISO RGD:1350873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 8990662 Lsm10 LSM10, U7 small nuclear RNA associated gene DOID:630 genetic disease ISO RGD:1350873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990689 Nefh neurofilament heavy chain gene DOID:0040089 autoimmune optic neuritis severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:23316360|REF_RGD_ID:27226805 8990689 Nefh neurofilament heavy chain gene DOID:0050328 congenital hypothyroidism ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression, increased phosphorylation PMID:18845185|REF_RGD_ID:9693732 8990689 Nefh neurofilament heavy chain gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736723 D RGD:7240710 20240320 OMIM 8990689 Nefh neurofilament heavy chain gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736723 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: NEFH-related condition PMID:25741868|PMID:28492532|PMID:29411640 8990689 Nefh neurofilament heavy chain gene DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC ISO RGD:736723 D RGD:7240710 20240320 OMIM 8990689 Nefh neurofilament heavy chain gene DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC ISO RGD:736723 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related condition PMID:25741868|PMID:27040688|PMID:28492532|PMID:29411640|PMID:29587262|PMID:30992180 8990689 Nefh neurofilament heavy chain gene DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C ISO RGD:736723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C PMID:25741868 8990689 Nefh neurofilament heavy chain gene DOID:0111252 vestibular schwannomatosis ISO RGD:736723 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 8990689 Nefh neurofilament heavy chain gene DOID:11260 rabies ISO RGD:10969 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord: PMID:29509660|REF_RGD_ID:27226884 8990689 Nefh neurofilament heavy chain gene DOID:11446 sciatic neuropathy ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:3135913|REF_RGD_ID:9693730 8990689 Nefh neurofilament heavy chain gene DOID:11446 sciatic neuropathy treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:12445968|REF_RGD_ID:9743941 8990689 Nefh neurofilament heavy chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736723 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:27929120|REF_RGD_ID:127284887 8990689 Nefh neurofilament heavy chain gene DOID:1210 optic neuritis ISO RGD:736723 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:29085182|REF_RGD_ID:27226813 8990689 Nefh neurofilament heavy chain gene DOID:1210 optic neuritis severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:15258226|REF_RGD_ID:27226814 8990689 Nefh neurofilament heavy chain gene DOID:1459 hypothyroidism treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:10439464|REF_RGD_ID:9743942 8990689 Nefh neurofilament heavy chain gene DOID:1686 glaucoma ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression:optic nerve: PMID:28498493|REF_RGD_ID:27226819 8990689 Nefh neurofilament heavy chain gene DOID:224 transient cerebral ischemia ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:8726968|REF_RGD_ID:9743938 8990689 Nefh neurofilament heavy chain gene DOID:2377 multiple sclerosis severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:16764346|REF_RGD_ID:27226808 8990689 Nefh neurofilament heavy chain gene DOID:2378 relapsing-remitting multiple sclerosis treatment ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:15222692|REF_RGD_ID:27226879 8990689 Nefh neurofilament heavy chain gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532 8990689 Nefh neurofilament heavy chain gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:10969 D RGD:9068941 20200609 RGD PMID:10686419|REF_RGD_ID:13525000 8990689 Nefh neurofilament heavy chain gene DOID:3525 middle cerebral artery infarction ISO RGD:10969 D RGD:9068941 20201211 RGD PMID:29967576|REF_RGD_ID:27226878 8990689 Nefh neurofilament heavy chain gene DOID:574 peripheral nervous system disease ISO RGD:736723 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 8990689 Nefh neurofilament heavy chain gene DOID:630 genetic disease ISO RGD:736723 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:23056405|PMID:25741868|PMID:27040688|PMID:28492532|PMID:28709447|PMID:28717666|PMID:28749476|PMID:29587262|PMID:30992180|PMID:31475037|PMID:33589474|PMID:35047667|PMID:9536098 8990689 Nefh neurofilament heavy chain gene DOID:7442 monoclonal gammopathy of uncertain significance ISO RGD:736723 D RGD:9068941 20200609 RGD associated with Peripheral Nervous System Diseases PMID:12536221|REF_RGD_ID:9693726 8990689 Nefh neurofilament heavy chain gene DOID:870 neuropathy ISO RGD:736723 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 8990689 Nefh neurofilament heavy chain gene DOID:8869 neuromyelitis optica ISO RGD:736723 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:23316360|REF_RGD_ID:27226805 8990689 Nefh neurofilament heavy chain gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:18772508|PMID:32168135|REF_RGD_ID:27226888|REF_RGD_ID:9698443 8990689 Nefh neurofilament heavy chain gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:736723 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:27929120|REF_RGD_ID:127284887 8990689 Nefh neurofilament heavy chain gene DOID:9001767 Unilateral Hearing Loss disease_progression ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:27457532|REF_RGD_ID:27372873 8990689 Nefh neurofilament heavy chain gene DOID:9002211 Hyperalgesia treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:21071147|REF_RGD_ID:27226885 8990689 Nefh neurofilament heavy chain gene DOID:9002498 Wallerian Degeneration ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression:neuron PMID:10646539|REF_RGD_ID:9698439 8990689 Nefh neurofilament heavy chain gene DOID:9003034 Anti-N-Methyl-D-Aspartate Receptor Encephalitis treatment ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:31313506|REF_RGD_ID:27226816 8990689 Nefh neurofilament heavy chain gene DOID:9003740 Nerve Injuries treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:24269493|REF_RGD_ID:27226886 8990689 Nefh neurofilament heavy chain gene DOID:9004484 Sepsis severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:30677080|REF_RGD_ID:27226881 8990689 Nefh neurofilament heavy chain gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:12941778|REF_RGD_ID:9698428 8990689 Nefh neurofilament heavy chain gene DOID:9006380 Bilateral Hearing Loss disease_progression ISO RGD:3159 D RGD:9068941 20200609 RGD PMID:27457532|REF_RGD_ID:27372873 8990689 Nefh neurofilament heavy chain gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:10969 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord: PMID:12742652|REF_RGD_ID:27226817 8990689 Nefh neurofilament heavy chain gene DOID:9007842 Sepsis-Associated Encephalopathy severity ISO RGD:736723 D RGD:9068941 20200609 RGD PMID:30677080|REF_RGD_ID:27226881 8990689 Nefh neurofilament heavy chain gene DOID:9008952 Breast Cancer, Familial ISO RGD:736723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16551709|PMID:17085682|PMID:21876083|PMID:24713400|PMID:24763289|PMID:28492532 8990689 Nefh neurofilament heavy chain gene DOID:9281 phenylketonuria ISO RGD:3159 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:7507064|REF_RGD_ID:9693700 8990697 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0050437 Danon disease ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 8990697 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:19185523|PMID:21596602|PMID:23871722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28794991|PMID:29353736|PMID:31288420 8990697 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8990697 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1350497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 8990697 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1350497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 8990697 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0111868 nonphotosensitive trichothiodystrophy 5 ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive PMID:25741868 8990697 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0112099 nuclear type mitochondrial complex I deficiency 12 ISO RGD:1350497 D RGD:7240710 20190315 OMIM 8990697 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:0112099 nuclear type mitochondrial complex I deficiency 12 ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 PMID:17262856|PMID:19185523|PMID:21596602|PMID:23871722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28794991|PMID:29353736|PMID:31288420 8990697 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:12849 autistic disorder ISO RGD:1350497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8990697 Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 gene DOID:630 genetic disease ISO RGD:1350497 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19185523|PMID:21596602|PMID:23871722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28794991|PMID:29353736|PMID:31288420 8990704 Firrm FIGNL1 interacting regulator of recombination and mitosis gene DOID:1540 parathyroid carcinoma ISO RGD:1603990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8990704 Firrm FIGNL1 interacting regulator of recombination and mitosis gene DOID:630 genetic disease ISO RGD:1603990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990704 Firrm FIGNL1 interacting regulator of recombination and mitosis gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1603990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 8990704 Firrm FIGNL1 interacting regulator of recombination and mitosis gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8990732 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:736612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 8990732 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:12849 autistic disorder ISO RGD:736612 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism 8990732 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:2717 Bloom syndrome ISO RGD:736612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8990732 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:630 genetic disease ISO RGD:736612 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990732 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:767 muscular atrophy ISO RGD:3157 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius PMID:19125695|REF_RGD_ID:7242174 8990732 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:9000058 Keloid ISO RGD:736612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711176 8990732 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:9007102 Myocardial Ischemia ISO RGD:736612 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8990732 Nedd4 NEDD4 E3 ubiquitin protein ligase gene DOID:9256 colorectal cancer ISO RGD:736612 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8990774 C5ar2 complement C5a receptor 2 gene DOID:630 genetic disease ISO RGD:1354173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990779 Spaca4 sperm acrosome associated 4 gene DOID:630 genetic disease ISO RGD:1343720 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990785 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:0060250 idiopathic scoliosis ISO RGD:1318390 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666238 8990785 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:0060250 idiopathic scoliosis ISO RGD:1551030 D RGD:9068941 20220825 MouseDO 8990785 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1318390 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:26004201|PMID:26752647 8990785 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:3910 lung adenocarcinoma ISO RGD:1318390 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 8990785 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:630 genetic disease ISO RGD:1318390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8990785 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:9001538 Lethal Congenital Contracture Syndrome 9 ISO RGD:1318390 D RGD:7240710 20190315 OMIM 8990785 Adgrg6 adhesion G protein-coupled receptor G6 gene DOID:9001538 Lethal Congenital Contracture Syndrome 9 ISO RGD:1318390 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9 PMID:25741868|PMID:26004201|PMID:26752647|PMID:28492532 8990822 Fam13c family with sequence similarity 13 member C gene DOID:10283 prostate cancer ISO RGD:1320881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8990822 Fam13c family with sequence similarity 13 member C gene DOID:630 genetic disease ISO RGD:1320881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990865 Ccin calicin gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1343153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8990865 Ccin calicin gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1343153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8990865 Ccin calicin gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1343153 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8990865 Ccin calicin gene DOID:0080942 anauxetic dysplasia ISO RGD:1343153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8990865 Ccin calicin gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1343153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8990865 Ccin calicin gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1343153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8990865 Ccin calicin gene DOID:630 genetic disease ISO RGD:1343153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990865 Ccin calicin gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343153 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8990865 Ccin calicin gene DOID:9870 galactosemia ISO RGD:1343153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8990868 Tubgcp3 tubulin gamma complex component 3 gene DOID:2222 factor X deficiency ISO RGD:1313927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 8990868 Tubgcp3 tubulin gamma complex component 3 gene DOID:630 genetic disease ISO RGD:1313927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990901 Atp6v1e2 ATPase H+ transporting V1 subunit E2 gene DOID:3883 Lynch syndrome ISO RGD:1323263 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8990901 Atp6v1e2 ATPase H+ transporting V1 subunit E2 gene DOID:630 genetic disease ISO RGD:1323263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990916 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8990916 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8990916 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8990916 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8990916 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:5812 MHC class II deficiency ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8990916 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:630 genetic disease ISO RGD:1601883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990916 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1601883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8990916 Rprd2 regulation of nuclear pre-mRNA domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8990949 Ccdc57 coiled-coil domain containing 57 gene DOID:630 genetic disease ISO RGD:1605253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8990979 Cd22 CD22 molecule gene DOID:0050745 diffuse large B-cell lymphoma treatment ISO RGD:1323159 D RGD:9068941 20220311 RGD PMID:25708834|REF_RGD_ID:151665133 8990979 Cd22 CD22 molecule gene DOID:0110222 Brugada syndrome 5 ISO RGD:1323159 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8990979 Cd22 CD22 molecule gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1323159 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8990979 Cd22 CD22 molecule gene DOID:543 dystonia ISO RGD:1323159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 8990979 Cd22 CD22 molecule gene DOID:630 genetic disease ISO RGD:1323159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991010 Pde1a phosphodiesterase 1A gene DOID:630 genetic disease ISO RGD:68458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991010 Pde1a phosphodiesterase 1A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:68329 D RGD:9068941 20200609 RGD PMID:12834273|REF_RGD_ID:2312523 8991045 Barx2 BARX homeobox 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1350102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 8991045 Barx2 BARX homeobox 2 gene DOID:5419 schizophrenia ISO RGD:1350102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8991045 Barx2 BARX homeobox 2 gene DOID:630 genetic disease ISO RGD:1350102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991045 Barx2 BARX homeobox 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8991045 Barx2 BARX homeobox 2 gene DOID:9007661 Dwarfism ISO RGD:1350102 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8991054 B2m beta-2-microglobulin gene DOID:0050589 inflammatory bowel disease ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:20015205|REF_RGD_ID:6482693 8991054 B2m beta-2-microglobulin gene DOID:0050636 familial visceral amyloidosis ISO RGD:735892 D RGD:7240710 20180130 OMIM 8991054 B2m beta-2-microglobulin gene DOID:0050636 familial visceral amyloidosis ISO RGD:735892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial visceral amyloidosis PMID:22693999|PMID:25702838|PMID:25741868|PMID:28492532 8991054 B2m beta-2-microglobulin gene DOID:0050712 AGAT deficiency ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8991054 B2m beta-2-microglobulin gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7688627 8991054 B2m beta-2-microglobulin gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 8991054 B2m beta-2-microglobulin gene DOID:0050830 peripheral artery disease severity ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:21314441|REF_RGD_ID:6482704 8991054 B2m beta-2-microglobulin gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:22693999|PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:0060704 lymphoproliferative syndrome ISO RGD:10224 D RGD:9068941 20200609 RGD associated with Herpesviridae Infections PMID:16282467|REF_RGD_ID:6483039 8991054 B2m beta-2-microglobulin gene DOID:0060704 lymphoproliferative syndrome ISO RGD:735892 D RGD:9068941 20200609 RGD associated with kidney transplantation PMID:9067691|REF_RGD_ID:6482705 8991054 B2m beta-2-microglobulin gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:28492532 8991054 B2m beta-2-microglobulin gene DOID:0111981 immunodeficiency 43 ISO RGD:735892 D RGD:7240710 20180130 OMIM 8991054 B2m beta-2-microglobulin gene DOID:0111981 immunodeficiency 43 ISO RGD:735892 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypoproteinemia, hypercatabolic PMID:16549777|PMID:25702838|PMID:25741868|PMID:28492532|PMID:4186801 8991054 B2m beta-2-microglobulin gene DOID:10763 hypertension ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15957539|REF_RGD_ID:1601306 8991054 B2m beta-2-microglobulin gene DOID:114 heart disease ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 8991054 B2m beta-2-microglobulin gene DOID:11400 pyelonephritis ISO RGD:2189 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:21797109|REF_RGD_ID:6482315 8991054 B2m beta-2-microglobulin gene DOID:14330 Parkinson's disease ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:corpus striatum PMID:7605592|REF_RGD_ID:6482706 8991054 B2m beta-2-microglobulin gene DOID:1909 melanoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:2349 arteriosclerosis ISO RGD:735892 D RGD:9068941 20200609 RGD associated with Kidney Diseases PMID:16221094|REF_RGD_ID:2311212 8991054 B2m beta-2-microglobulin gene DOID:2352 hemochromatosis ISO RGD:10224 D RGD:9068941 20220825 MouseDO OMIM:231100 8991054 B2m beta-2-microglobulin gene DOID:2717 Bloom syndrome ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8991054 B2m beta-2-microglobulin gene DOID:3021 acute kidney failure ISO RGD:2189 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19536607|REF_RGD_ID:6482685 8991054 B2m beta-2-microglobulin gene DOID:3021 acute kidney failure ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22005293|PMID:2689182|PMID:28885000 8991054 B2m beta-2-microglobulin gene DOID:3407 carotid artery disease disease_progression ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:21546482|REF_RGD_ID:6482703 8991054 B2m beta-2-microglobulin gene DOID:3717 gastric adenocarcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21517111 8991054 B2m beta-2-microglobulin gene DOID:3907 lung squamous cell carcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:3910 lung adenocarcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:417 autoimmune disease ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21793797 8991054 B2m beta-2-microglobulin gene DOID:417 autoimmune disease ISO RGD:735892 D RGD:9068941 20200609 RGD associated with Leukemia, lymphocyte, chronic-B-cell; protein:increased expression:urine PMID:17214095|REF_RGD_ID:6482731 8991054 B2m beta-2-microglobulin gene DOID:5199 ureteral obstruction ISO RGD:2189 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19536607|REF_RGD_ID:6482685 8991054 B2m beta-2-microglobulin gene DOID:5409 lung small cell carcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Small cell lung carcinoma PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:5411 lung oat cell carcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung oat cell carcinoma PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:557 kidney disease ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303580|PMID:2202081|PMID:24863737 8991054 B2m beta-2-microglobulin gene DOID:5746 ovarian serous cystadenocarcinoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:576 proteinuria ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:17634209|REF_RGD_ID:2311211 8991054 B2m beta-2-microglobulin gene DOID:576 proteinuria ISO RGD:735892 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:33857584 8991054 B2m beta-2-microglobulin gene DOID:630 genetic disease ISO RGD:735892 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991054 B2m beta-2-microglobulin gene DOID:640 encephalomyelitis ISO RGD:10224 D RGD:9068941 20200609 RGD associated with Theilovirus infection PMID:22335434|REF_RGD_ID:6482701 8991054 B2m beta-2-microglobulin gene DOID:640 encephalomyelitis ISO RGD:735892 D RGD:9068941 20200609 RGD associated with Measles; protein:increased expression:cerebrospinal fluid PMID:1402029|REF_RGD_ID:6482707 8991054 B2m beta-2-microglobulin gene DOID:6536 plasma cell neoplasm ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:83 cataract ISO RGD:735892 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:12567748|REF_RGD_ID:2311237 8991054 B2m beta-2-microglobulin gene DOID:848 arthritis ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:16575857|REF_RGD_ID:6482692 8991054 B2m beta-2-microglobulin gene DOID:8622 measles ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:1402029|REF_RGD_ID:6482707 8991054 B2m beta-2-microglobulin gene DOID:8923 skin melanoma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:735892 D RGD:9068941 20200609 RGD associated with infant, premature;protein:increased expression:urine PMID:19527385|REF_RGD_ID:6482709 8991054 B2m beta-2-microglobulin gene DOID:9000380 Spondylarthritis ISO RGD:735892 D RGD:9068941 20200609 RGD PMID:16575857|REF_RGD_ID:6482692 8991054 B2m beta-2-microglobulin gene DOID:9001542 Albuminuria ISO RGD:735892 D RGD:9068941 20200609 RGD associated with HIV infections;protein:increased expression:urine PMID:18469311|REF_RGD_ID:6482713 8991054 B2m beta-2-microglobulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2189 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:18777138|REF_RGD_ID:6482712 8991054 B2m beta-2-microglobulin gene DOID:9002304 Prostatic Neoplasms ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404077 8991054 B2m beta-2-microglobulin gene DOID:9002331 Knee Osteoarthritis ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18795399|REF_RGD_ID:6482710 8991054 B2m beta-2-microglobulin gene DOID:9002513 Hypoproteinemia susceptibility ISO RGD:735892 D RGD:9068941 20200609 RGD DNA:transversion:exon;913G>C PMID:16549777|REF_RGD_ID:1599429 8991054 B2m beta-2-microglobulin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10224 D RGD:9068941 20200609 RGD PMID:15837577|REF_RGD_ID:6482690 8991054 B2m beta-2-microglobulin gene DOID:9003571 Paraproteinemias ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:9005358 Hypergammaglobulinemia ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21793797 8991054 B2m beta-2-microglobulin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:735892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 8991054 B2m beta-2-microglobulin gene DOID:9008443 Colorectal Neoplasms ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:9256 colorectal cancer ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8991054 B2m beta-2-microglobulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15127324|REF_RGD_ID:2311236 8991054 B2m beta-2-microglobulin gene DOID:9538 multiple myeloma ISO RGD:735892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:26619011 8991054 B2m beta-2-microglobulin gene DOID:9744 type 1 diabetes mellitus ISO RGD:10224 D RGD:9068941 20200609 RGD PMID:11572996|PMID:15446308|REF_RGD_ID:2311235|REF_RGD_ID:2311238 8991054 B2m beta-2-microglobulin gene DOID:9970 obesity ISO RGD:735892 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:15517379|REF_RGD_ID:1601309 8991063 Ppm1a protein phosphatase, Mg2+/Mn2+ dependent 1A gene DOID:630 genetic disease ISO RGD:731572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991079 Lmo2 LIM domain only 2 gene DOID:0080600 COVID-19 ISO RGD:1316093 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8991079 Lmo2 LIM domain only 2 gene DOID:1059 intellectual disability ISO RGD:1316093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8991079 Lmo2 LIM domain only 2 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1316093 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:19246562|PMID:2034676|PMID:24394663 8991079 Lmo2 LIM domain only 2 gene DOID:630 genetic disease ISO RGD:1316093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991079 Lmo2 LIM domain only 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8991085 Dab1 DAB adaptor protein 1 gene DOID:0050952 spastic ataxia ISO RGD:1353804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 8991085 Dab1 DAB adaptor protein 1 gene DOID:0050984 spinocerebellar ataxia type 37 ISO RGD:1353804 D RGD:7240710 20190315 OMIM 8991085 Dab1 DAB adaptor protein 1 gene DOID:0050984 spinocerebellar ataxia type 37 ISO RGD:1353804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 37 PMID:23700170|PMID:25741868|PMID:28686858|PMID:29939198 8991085 Dab1 DAB adaptor protein 1 gene DOID:0060673 Peters anomaly ISO RGD:1353804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459 8991085 Dab1 DAB adaptor protein 1 gene DOID:12849 autistic disorder ISO RGD:1353804 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15820235 8991085 Dab1 DAB adaptor protein 1 gene DOID:12849 autistic disorder ISO RGD:1353804 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebellum, Brodmann area 9 (human) PMID:15820235|REF_RGD_ID:2317973 8991085 Dab1 DAB adaptor protein 1 gene DOID:1824 status epilepticus ISO RGD:628770 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (rat) PMID:17314278|REF_RGD_ID:2317783 8991085 Dab1 DAB adaptor protein 1 gene DOID:630 genetic disease ISO RGD:1353804 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8991108 Nphp3 nephrocystin 3 gene DOID:0050777 Joubert syndrome ISO RGD:1342817 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18371931|PMID:19303681|PMID:23559409|PMID:25741868|PMID:26184788|PMID:28492532|PMID:28921755|PMID:32040628|PMID:32173348|PMID:33323469|PMID:34031707 8991108 Nphp3 nephrocystin 3 gene DOID:0050777 Joubert syndrome ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18371931|PMID:19303681|PMID:23559409|PMID:25741868|PMID:26184788|PMID:28492532|PMID:28921755|PMID:31131822|PMID:32040628|PMID:32173348|PMID:33323469|PMID:34031707 8991108 Nphp3 nephrocystin 3 gene DOID:0050778 Meckel syndrome ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 8991108 Nphp3 nephrocystin 3 gene DOID:0070121 Meckel syndrome 7 ISO RGD:1342817 D RGD:7240710 20180130 OMIM 8991108 Nphp3 nephrocystin 3 gene DOID:0070121 Meckel syndrome 7 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:26184788|PMID:28492532 8991108 Nphp3 nephrocystin 3 gene DOID:0080322 polycystic kidney disease ISO RGD:1342817 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:18371931|PMID:20007846|PMID:23559409|PMID:25741868|PMID:26673778|PMID:27894351|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864 8991108 Nphp3 nephrocystin 3 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1342817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12089381 8991108 Nphp3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28973083|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1342817 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31131822|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:34212438|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:0111114 nephronophthisis 3 ISO RGD:1342817 D RGD:7240710 20180130 OMIM 8991108 Nphp3 nephrocystin 3 gene DOID:0111114 nephronophthisis 3 ISO RGD:1342817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 PMID:12872122|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27491411|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:29801666|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32502767|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34212438|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:28492532 8991108 Nphp3 nephrocystin 3 gene DOID:10763 hypertension ISO RGD:1342817 D RGD:9068941 20230107 RGD associated with nephronophthisis; PMID:19177160|REF_RGD_ID:155791686 8991108 Nphp3 nephrocystin 3 gene DOID:12215 oligohydramnios ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: anhydramnios PMID:25741868|PMID:35005812 8991108 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28973083|PMID:28991257|PMID:29801666|PMID:30002499|PMID:33532864|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:12712 nephronophthisis ISO RGD:1342817 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25356970|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27491411|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28891274|PMID:28921755|PMID:28973083|PMID:29801666|PMID:30002499|PMID:30586318|PMID:31131822|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32502767|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34013113|PMID:34031707|PMID:34212438|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:25741868|PMID:28492532 8991108 Nphp3 nephrocystin 3 gene DOID:14791 Leber congenital amaurosis ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 8991108 Nphp3 nephrocystin 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1342817 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 8991108 Nphp3 nephrocystin 3 gene DOID:2975 cystic kidney disease ISO RGD:1556941 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.I614S (mouse) PMID:18371931|REF_RGD_ID:11352488 8991108 Nphp3 nephrocystin 3 gene DOID:557 kidney disease ISO RGD:1342817 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:17855640|PMID:24033266|PMID:25741868|PMID:28492532 8991108 Nphp3 nephrocystin 3 gene DOID:630 genetic disease ISO RGD:1342817 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:28492532|PMID:30586318 8991108 Nphp3 nephrocystin 3 gene DOID:758 situs inversus ISO RGD:1556941 D RGD:9068941 20200609 RGD PMID:18371931|REF_RGD_ID:11352488 8991108 Nphp3 nephrocystin 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1556941 D RGD:9068941 20220825 MouseDO 8991108 Nphp3 nephrocystin 3 gene DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 ISO RGD:1342817 D RGD:7240710 20180130 OMIM 8991108 Nphp3 nephrocystin 3 gene DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 ISO RGD:1342817 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:30586318|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:34212438|PMID:8874114|PMID:9536098 8991108 Nphp3 nephrocystin 3 gene DOID:9006205 Animal Disease Models ISO RGD:1342817 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12089381 8991108 Nphp3 nephrocystin 3 gene DOID:9007653 Multiple Abnormalities ISO RGD:1342817 D RGD:9068941 20200609 RGD DNA:missense mutation, nonsense mutations, splice-site mutations:multiple PMID:18371931|REF_RGD_ID:11352488 8991108 Nphp3 nephrocystin 3 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8991108 Nphp3 nephrocystin 3 gene DOID:9270 alkaptonuria ISO RGD:1342817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8991138 Atf3 activating transcription factor 3 gene DOID:0050700 cardiomyopathy ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25136830 8991138 Atf3 activating transcription factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:10198 D RGD:9068941 20200609 RGD PMID:26522727|REF_RGD_ID:13506817 8991138 Atf3 activating transcription factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:735760 D RGD:9068941 20200609 RGD PMID:26522727|REF_RGD_ID:13506817 8991138 Atf3 activating transcription factor 3 gene DOID:10283 prostate cancer treatment ISO RGD:735760 D RGD:9068941 20200609 RGD PMID:26944919|REF_RGD_ID:13506816 8991138 Atf3 activating transcription factor 3 gene DOID:10892 hypospadias ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18001166 8991138 Atf3 activating transcription factor 3 gene DOID:1540 parathyroid carcinoma ISO RGD:735760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8991138 Atf3 activating transcription factor 3 gene DOID:2957 pulmonary tuberculosis ISO RGD:735760 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:lung PMID:20856677|REF_RGD_ID:34888225 8991138 Atf3 activating transcription factor 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 8991138 Atf3 activating transcription factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043644 8991138 Atf3 activating transcription factor 3 gene DOID:574 peripheral nervous system disease ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686523 8991138 Atf3 activating transcription factor 3 gene DOID:630 genetic disease ISO RGD:735760 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991138 Atf3 activating transcription factor 3 gene DOID:863 nervous system disease ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18701217|PMID:18754875 8991138 Atf3 activating transcription factor 3 gene DOID:9001488 Human Influenza ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8991138 Atf3 activating transcription factor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8991138 Atf3 activating transcription factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16516039 8991138 Atf3 activating transcription factor 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15674352 8991138 Atf3 activating transcription factor 3 gene DOID:9003936 Cardiomegaly ISO RGD:735760 D RGD:9068941 20200609 RGD PMID:11485922|REF_RGD_ID:7327201 8991138 Atf3 activating transcription factor 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8991138 Atf3 activating transcription factor 3 gene DOID:9007188 Liver Neoplasms ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21159647 8991138 Atf3 activating transcription factor 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:735760 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34364923 8991138 Atf3 activating transcription factor 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2165 D RGD:9068941 20200609 RGD PMID:11485922|REF_RGD_ID:7327201 8991138 Atf3 activating transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735760 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8991138 Atf3 activating transcription factor 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735760 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 8991159 Ankub1 ankyrin repeat and ubiquitin domain containing 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1348688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 8991159 Ankub1 ankyrin repeat and ubiquitin domain containing 1 gene DOID:630 genetic disease ISO RGD:1348688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991169 Polr3b RNA polymerase III subunit B gene DOID:0060794 hypomyelinating leukodystrophy 7 ISO RGD:1351468 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy PMID:22036171|PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32180488|PMID:32319736|PMID:32345981|PMID:32870266|PMID:33726816|PMID:34440436|PMID:35316923 8991169 Polr3b RNA polymerase III subunit B gene DOID:0060797 hypomyelinating leukodystrophy 8 ISO RGD:1351468 D RGD:7240710 20180130 OMIM 8991169 Polr3b RNA polymerase III subunit B gene DOID:0060797 hypomyelinating leukodystrophy 8 ISO RGD:1351468 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism PMID:16199547|PMID:17576681|PMID:18851904|PMID:22036171|PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26011300|PMID:26045207|PMID:26204956|PMID:26478204|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:29141312|PMID:30548255|PMID:31221184|PMID:31969655|PMID:32180488|PMID:32319736|PMID:32342562|PMID:32345981|PMID:32870266|PMID:33726816|PMID:34440436|PMID:35316923|PMID:9536098 8991169 Polr3b RNA polymerase III subunit B gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1351468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736 8991169 Polr3b RNA polymerase III subunit B gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1351468 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:16199547|PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25133958|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:32345981|PMID:32870266|PMID:33726816|PMID:34440436|PMID:35316923 8991169 Polr3b RNA polymerase III subunit B gene DOID:1059 intellectual disability ISO RGD:1351468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 8991169 Polr3b RNA polymerase III subunit B gene DOID:13938 amenorrhea ISO RGD:1351468 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:22855961|PMID:25133958|PMID:25741868|PMID:27029625|PMID:27512013|PMID:28492532|PMID:32345981|PMID:32870266|PMID:33726816|PMID:34440436|PMID:35316923 8991169 Polr3b RNA polymerase III subunit B gene DOID:1921 Klinefelter syndrome ISO RGD:1351468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736 8991169 Polr3b RNA polymerase III subunit B gene DOID:1924 hypogonadism ISO RGD:1351468 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736 8991169 Polr3b RNA polymerase III subunit B gene DOID:630 genetic disease ISO RGD:1351468 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:22855961|PMID:25133958|PMID:25339210|PMID:25741868|PMID:27029625|PMID:27512013|PMID:28492532|PMID:32342562|PMID:32345981|PMID:32870266|PMID:33726816|PMID:34440436|PMID:35316923|PMID:9536098 8991169 Polr3b RNA polymerase III subunit B gene DOID:9000624 Charcot-Marie-Tooth Disease Type 1I ISO RGD:1351468 D RGD:7240710 20220223 OMIM 8991169 Polr3b RNA polymerase III subunit B gene DOID:9000624 Charcot-Marie-Tooth Disease Type 1I ISO RGD:1351468 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1I PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27029625|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736|PMID:34666706|PMID:35395209 8991169 Polr3b RNA polymerase III subunit B gene DOID:9005213 Dysmyelinating Leukodystrophy with Oligodontia ISO RGD:1351468 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dentoleukoencephalopathy PMID:22036172|PMID:22855961|PMID:23355746|PMID:24190003|PMID:25339210|PMID:25741868|PMID:26045207|PMID:26204956|PMID:27512013|PMID:28492532|PMID:28589944|PMID:32319736 8991222 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8991222 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 8991222 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8991222 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 8991222 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 8991222 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1348120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 8991222 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:12849 autistic disorder ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8991222 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1348120 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:16783379|PMID:22706301|PMID:23704091|PMID:24453067|PMID:28492532 8991222 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:3070 high grade glioma ISO RGD:1348120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8991222 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1348120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991222 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:9004203 Chromosome Breakage ISO RGD:1348120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 8991222 Suv39h1 SUV39H1 histone lysine methyltransferase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1348120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 8991232 Glt1d1 glycosyltransferase 1 domain containing 1 gene DOID:630 genetic disease ISO RGD:1606714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991255 Fst follistatin gene DOID:0050567 orofacial cleft ISO RGD:734008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft PMID:31215115 8991255 Fst follistatin gene DOID:0060762 restrictive dermopathy ISO RGD:10603 D RGD:9068941 20220825 MouseDO OMIM:275210 8991255 Fst follistatin gene DOID:11162 respiratory failure ISO RGD:10603 D RGD:9068941 20200609 RGD PMID:7885475|REF_RGD_ID:737711 8991255 Fst follistatin gene DOID:11612 polycystic ovary syndrome ISO RGD:734008 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:10411917|REF_RGD_ID:1601259 8991255 Fst follistatin gene DOID:630 genetic disease ISO RGD:734008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991255 Fst follistatin gene DOID:684 hepatocellular carcinoma ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203361|PMID:19363144 8991255 Fst follistatin gene DOID:767 muscular atrophy ISO RGD:734008 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33034787 8991255 Fst follistatin gene DOID:9000217 Stomach Neoplasms ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8991255 Fst follistatin gene DOID:9001981 Weight Loss ISO RGD:734008 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33034787 8991255 Fst follistatin gene DOID:9003281 Spontaneous Abortions ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8991255 Fst follistatin gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2633 D RGD:9068941 20230427 RGD mRNA:decreased expression:brain (rat) PMID:10415398|REF_RGD_ID:329322882 8991255 Fst follistatin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8991255 Fst follistatin gene DOID:9004590 Acute Liver Failure ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12560755 8991255 Fst follistatin gene DOID:9007188 Liver Neoplasms ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203361 8991255 Fst follistatin gene DOID:9008939 Breast Neoplasms ISO RGD:734008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:0050719 cerebral folate receptor alpha deficiency ISO RGD:68580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:19732866|PMID:22586289|PMID:28492532 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:68580 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:1059 intellectual disability ISO RGD:68580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:10763 hypertension ISO RGD:68580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15220217 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:10763 hypertension ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2276047,snp8,rs9886(human) PMID:15220217|REF_RGD_ID:1626127 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:630 genetic disease ISO RGD:68580 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:9002202 Opsismodysplasia ISO RGD:68580 D RGD:7240710 20180130 OMIM 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:9002202 Opsismodysplasia ISO RGD:68580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Opsismodysplasia PMID:17952091|PMID:23273567|PMID:23273569|PMID:25741868|PMID:25997753|PMID:27708270|PMID:28492532|PMID:28869677|PMID:29276006 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:68580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15220217 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2276047,snp8(human) PMID:15220217|REF_RGD_ID:1626127 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:9007692 Insulin Resistance ISO RGD:68396 D RGD:9068941 20200609 RGD PMID:12453826|REF_RGD_ID:2312442 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:9007692 Insulin Resistance ISO RGD:68396 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X PMID:17327370|REF_RGD_ID:2312440 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12086927|PMID:25635986 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2276047,snp8(human) PMID:15220217|REF_RGD_ID:1626127 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:deletion:3' utr (human) PMID:12086927|REF_RGD_ID:633161 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:9970 obesity ISO RGD:68580 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2276047,snp8,rs9886(human) PMID:15220217|REF_RGD_ID:1626127 8991270 Inppl1 inositol polyphosphate phosphatase like 1 gene DOID:9993 hypoglycemia ISO RGD:68581 D RGD:9068941 20200609 RGD PMID:11343120|REF_RGD_ID:737755 8991305 Sfr1 SWI5 dependent homologous recombination repair protein 1 gene DOID:630 genetic disease ISO RGD:1313532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991322 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1604278 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:11992493|PMID:21358632|PMID:22333897|PMID:23023959|PMID:24033266|PMID:25741868|PMID:28492532 8991322 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0060350 adenine phosphoribosyltransferase deficiency ISO RGD:1604278 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency PMID:25741868|PMID:28492532 8991322 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 8991322 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0080515 Meier-Gorlin syndrome 4 ISO RGD:1604278 D RGD:7240710 20190424 OMIM 8991322 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0080515 Meier-Gorlin syndrome 4 ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 PMID:11477602|PMID:11992493|PMID:16199547|PMID:18414213|PMID:21358631|PMID:21358632|PMID:22333897|PMID:23023959|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33338304 8991322 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604278 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 8991322 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:25545067|PMID:25741868|PMID:28492532|PMID:34387910 8991322 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:14780 KBG syndrome ISO RGD:1604278 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 8991322 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:630 genetic disease ISO RGD:1604278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8991322 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604278 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8991322 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1604278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 8991322 Cdt1 chromatin licensing and DNA replication factor 1 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1604278 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35048507 8991337 Trdn triadin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:21520333|PMID:22406018|PMID:22422768|PMID:22909776|PMID:23035052|PMID:24033266|PMID:25326635|PMID:25640679|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:28492532|PMID:30649896|PMID:31437535|PMID:9536098 8991337 Trdn triadin gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:735791 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:16199547|PMID:17576681|PMID:19403623|PMID:19763152|PMID:20307669|PMID:21520333|PMID:22406018|PMID:22422768|PMID:23035052|PMID:24025405|PMID:24033266|PMID:25326635|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:27538377|PMID:28341588|PMID:28492532|PMID:30649896|PMID:30847666|PMID:31589614|PMID:31847883|PMID:31980526|PMID:32746448|PMID:33432171|PMID:33895855|PMID:36203036|PMID:9536098 8991337 Trdn triadin gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:735791 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:16199547|PMID:17576681|PMID:19403623|PMID:21520333|PMID:22422768|PMID:23035052|PMID:24025405|PMID:24033266|PMID:25326635|PMID:25640679|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:27538377|PMID:28341588|PMID:28492532|PMID:30649896|PMID:30847666|PMID:31437535|PMID:31589614|PMID:31847883|PMID:31980526|PMID:32746448|PMID:33432171|PMID:33895855|PMID:36203036|PMID:9536098 8991337 Trdn triadin gene DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 ISO RGD:735791 D RGD:7240710 20180130 OMIM 8991337 Trdn triadin gene DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 ISO RGD:735791 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 5 | ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness PMID:16199547|PMID:17576681|PMID:22422768|PMID:23035052|PMID:24025405|PMID:24033266|PMID:25326635|PMID:25650408|PMID:25741868|PMID:25922419|PMID:26200674|PMID:26768964|PMID:27538377|PMID:28341588|PMID:28492532|PMID:30649896|PMID:30847666|PMID:31437535|PMID:31589614|PMID:31847883|PMID:31980526|PMID:32746448|PMID:33432171|PMID:36203036|PMID:9536098 8991337 Trdn triadin gene DOID:12930 dilated cardiomyopathy ISO RGD:735791 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:17400717|REF_RGD_ID:7327229 8991337 Trdn triadin gene DOID:1826 epilepsy ISO RGD:735791 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8991337 Trdn triadin gene DOID:630 genetic disease ISO RGD:735791 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8991337 Trdn triadin gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:735791 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia PMID:28492532 8991337 Trdn triadin gene DOID:9775 diastolic heart failure ISO RGD:735791 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8991351 Nemf nuclear export mediator factor gene DOID:0060041 autism spectrum disorder ISO RGD:1317135 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 8991351 Nemf nuclear export mediator factor gene DOID:440 neuromuscular disease ISO RGD:1317136 D RGD:9068941 20220825 MouseDO 8991351 Nemf nuclear export mediator factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317135 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8991351 Nemf nuclear export mediator factor gene DOID:630 genetic disease ISO RGD:1317135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991351 Nemf nuclear export mediator factor gene DOID:870 neuropathy ISO RGD:1317136 D RGD:9068941 20220825 MouseDO 8991351 Nemf nuclear export mediator factor gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1317135 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8991351 Nemf nuclear export mediator factor gene DOID:9004881 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy ISO RGD:1317135 D RGD:7240710 20201202 OMIM 8991351 Nemf nuclear export mediator factor gene DOID:9004881 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy ISO RGD:1317135 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy PMID:25741868|PMID:27431290|PMID:32934225|PMID:33004807|PMID:33048237 8991392 Esf1 ESF1 nucleolar pre-rRNA processing protein homolog gene DOID:630 genetic disease ISO RGD:1314468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991411 Chp1 calcineurin like EF-hand protein 1 gene DOID:2717 Bloom syndrome ISO RGD:736499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8991411 Chp1 calcineurin like EF-hand protein 1 gene DOID:9000187 Spastic Ataxia 9, Autosomal Recessive ISO RGD:736499 D RGD:7240710 20190626 OMIM 8991411 Chp1 calcineurin like EF-hand protein 1 gene DOID:9256 colorectal cancer ISO RGD:736499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8991425 Ptbp3 polypyrimidine tract binding protein 3 gene DOID:630 genetic disease ISO RGD:732344 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991458 Mia MIA SH3 domain containing gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 8991458 Mia MIA SH3 domain containing gene DOID:1342 congenital hypoplastic anemia ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 8991458 Mia MIA SH3 domain containing gene DOID:2340 craniosynostosis ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 8991458 Mia MIA SH3 domain containing gene DOID:630 genetic disease ISO RGD:732144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991458 Mia MIA SH3 domain containing gene DOID:9000217 Stomach Neoplasms ISO RGD:732144 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 8991458 Mia MIA SH3 domain containing gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 8991458 Mia MIA SH3 domain containing gene DOID:9003049 Femur Head Necrosis ISO RGD:620883 D RGD:9068941 20200609 RGD mRNA:increased expression:head of femur PMID:20579363|REF_RGD_ID:10046018 8991458 Mia MIA SH3 domain containing gene DOID:9269 maple syrup urine disease ISO RGD:732144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:2291813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:2291813 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 ISO RGD:2291813 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 2 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:1059 intellectual disability ISO RGD:2291813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849|PMID:31928709 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:2291813 D RGD:9068941 20210917 RGD mRNA:decreased expression:esophagus squamous epithelium (human) PMID:27050164|REF_RGD_ID:150429668 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:543 dystonia ISO RGD:2291813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:630 genetic disease ISO RGD:2291813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31928709 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:2291813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9002414 NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES ISO RGD:2291813 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2291813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9006264 Beck-Fahrner Syndrome ISO RGD:2291813 D RGD:7240710 20200617 OMIM 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9006264 Beck-Fahrner Syndrome ISO RGD:2291813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beck-Fahrner syndrome | ClinVar Annotator: match by term: TET3 deficiency | ClinVar Annotator: match by term: TET3-related condition PMID:25741868|PMID:28492532|PMID:30167849|PMID:31928709 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:2291813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9008582 Developmental Disease ISO RGD:2291813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8991466 Tet3 tet methylcytosine dioxygenase 3 gene DOID:9538 multiple myeloma ISO RGD:2291813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 8991493 Cplx3 complexin 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604870 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8991493 Cplx3 complexin 3 gene DOID:2717 Bloom syndrome ISO RGD:1604870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8991493 Cplx3 complexin 3 gene DOID:5419 schizophrenia ISO RGD:1604870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8991493 Cplx3 complexin 3 gene DOID:630 genetic disease ISO RGD:1604870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991493 Cplx3 complexin 3 gene DOID:9256 colorectal cancer ISO RGD:1604870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8991509 Zdhhc3 zinc finger DHHC-type palmitoyltransferase 3 gene DOID:630 genetic disease ISO RGD:1319160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991525 Nadk2 NAD kinase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1604237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8991525 Nadk2 NAD kinase 2, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8991525 Nadk2 NAD kinase 2, mitochondrial gene DOID:9005948 2,4-Dienoyl-CoA Reductase Deficiency ISO RGD:1604237 D RGD:7240710 20180130 OMIM 8991525 Nadk2 NAD kinase 2, mitochondrial gene DOID:9005948 2,4-Dienoyl-CoA Reductase Deficiency ISO RGD:1604237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency PMID:17576681|PMID:24847004|PMID:25741868|PMID:27940755|PMID:28492532|PMID:29388319|PMID:33223529|PMID:9536098 8991542 Pitpnc1 phosphatidylinositol transfer protein cytoplasmic 1 gene DOID:630 genetic disease ISO RGD:1312467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991556 Ovch2 ovochymase 2 gene DOID:630 genetic disease ISO RGD:1602408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991575 Thap5 THAP domain containing 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8991575 Thap5 THAP domain containing 5 gene DOID:630 genetic disease ISO RGD:1353274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991588 Prox1 prospero homeobox 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315764 D RGD:9068941 20220825 MouseDO 8991588 Prox1 prospero homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8991588 Prox1 prospero homeobox 1 gene DOID:1824 status epilepticus ISO RGD:1306890 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus hilus PMID:17042797|REF_RGD_ID:5133273 8991588 Prox1 prospero homeobox 1 gene DOID:630 genetic disease ISO RGD:1315763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991588 Prox1 prospero homeobox 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17415710 8991588 Prox1 prospero homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8991588 Prox1 prospero homeobox 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1315763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081858 8991588 Prox1 prospero homeobox 1 gene DOID:9970 obesity ISO RGD:1315764 D RGD:9068941 20220825 MouseDO OMIM:601665 8991608 Nipbl NIPBL cohesin loading factor gene DOID:0050581 brachydactyly ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868 8991608 Nipbl NIPBL cohesin loading factor gene DOID:0080006 bone development disease ISO RGD:1604032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 8991608 Nipbl NIPBL cohesin loading factor gene DOID:0080395 orofacial cleft 1 ISO RGD:1604032 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Orofacial cleft 1 PMID:25741868|PMID:28492532 8991608 Nipbl NIPBL cohesin loading factor gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1604032 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 8991608 Nipbl NIPBL cohesin loading factor gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1604032 D RGD:7240710 20190424 OMIM 8991608 Nipbl NIPBL cohesin loading factor gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1604032 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar Annotator: match by term: NIPBL-related condition PMID:11391654|PMID:15146185|PMID:15146186|PMID:15318302|PMID:15591270|PMID:16100726|PMID:16199547|PMID:16236812|PMID:17106445|PMID:17221863|PMID:17576681|PMID:17661813|PMID:18414213|PMID:19763162|PMID:20301283|PMID:20358602|PMID:20583156|PMID:20824775|PMID:22581668|PMID:22857006|PMID:23254390|PMID:23304577|PMID:23313159|PMID:23505322|PMID:24038889|PMID:24145515|PMID:24218399|PMID:24635725|PMID:24689074|PMID:24759409|PMID:24874887|PMID:24918291|PMID:25125236|PMID:25447906|PMID:25574841|PMID:25640679|PMID:25741868|PMID:25991456|PMID:25996639|PMID:26467025|PMID:26597256|PMID:26701315|PMID:26725122|PMID:26925417|PMID:26938784|PMID:28425213|PMID:28492532|PMID:28588001|PMID:29159939|PMID:29620724|PMID:29764576|PMID:29995837|PMID:30029678|PMID:30057591|PMID:30158690|PMID:30606125|PMID:30614194|PMID:30692697|PMID:31019026|PMID:31157197|PMID:31337854|PMID:32005694|PMID:32033219|PMID:32333414|PMID:34008892|PMID:34411415|PMID:35476527|PMID:35769956|PMID:9536098 8991608 Nipbl NIPBL cohesin loading factor gene DOID:1059 intellectual disability ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8991608 Nipbl NIPBL cohesin loading factor gene DOID:11383 cryptorchidism ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cryptorchidism PMID:25741868 8991608 Nipbl NIPBL cohesin loading factor gene DOID:11725 Cornelia de Lange syndrome ISO RGD:1604032 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brachmann de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome | ClinVar Annotator: match by term: Typus degenerativus amstelodamensis PMID:15318302|PMID:16199547|PMID:18414213|PMID:20824775|PMID:24038889|PMID:25741868|PMID:26467025|PMID:28492532 8991608 Nipbl NIPBL cohesin loading factor gene DOID:11725 Cornelia de Lange syndrome severity ISO RGD:1604032 D RGD:9068941 20221027 RGD DNA:mutations:cds: PMID:27125329|REF_RGD_ID:155630600 8991608 Nipbl NIPBL cohesin loading factor gene DOID:12712 nephronophthisis ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 8991608 Nipbl NIPBL cohesin loading factor gene DOID:1682 congenital heart disease ISO RGD:1604032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 8991608 Nipbl NIPBL cohesin loading factor gene DOID:630 genetic disease ISO RGD:1604032 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15318302|PMID:16199547|PMID:17576681|PMID:17661813|PMID:18414213|PMID:19763162|PMID:20358602|PMID:22857006|PMID:23254390|PMID:23505322|PMID:24038889|PMID:24918291|PMID:25125236|PMID:25574841|PMID:25741868|PMID:25996639|PMID:26467025|PMID:26597256|PMID:26701315|PMID:26925417|PMID:28492532|PMID:28518168|PMID:28588001|PMID:29159939|PMID:29995837|PMID:30606125|PMID:30692697|PMID:31157197|PMID:32033219|PMID:32461654|PMID:34411415|PMID:34958143|PMID:9536098 8991608 Nipbl NIPBL cohesin loading factor gene DOID:6419 tetralogy of Fallot ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:25741868 8991608 Nipbl NIPBL cohesin loading factor gene DOID:9002500 Hearing Disorders ISO RGD:1604032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 8991608 Nipbl NIPBL cohesin loading factor gene DOID:9004203 Chromosome Breakage ISO RGD:1604032 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:35435490 8991608 Nipbl NIPBL cohesin loading factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8991608 Nipbl NIPBL cohesin loading factor gene DOID:9008086 Developmental Disabilities ISO RGD:1604032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:17576681|PMID:25741868|PMID:28492532|PMID:30606125|PMID:31157197|PMID:9536098 8991608 Nipbl NIPBL cohesin loading factor gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1604032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19763162 8991608 Nipbl NIPBL cohesin loading factor gene DOID:9009021 Plagiocephaly ISO RGD:1604032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plagiocephaly PMID:30311386 8991668 Adra2b adrenoceptor alpha 2B gene DOID:0111692 familial adult myoclonic epilepsy 2 ISO RGD:731080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic 2 | ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 PMID:25741868 8991668 Adra2b adrenoceptor alpha 2B gene DOID:1059 intellectual disability ISO RGD:731080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8991668 Adra2b adrenoceptor alpha 2B gene DOID:10763 hypertension ISO RGD:2057 D RGD:9068941 20200609 RGD PMID:17070424|REF_RGD_ID:2313548 8991668 Adra2b adrenoceptor alpha 2B gene DOID:10763 hypertension ISO RGD:731080 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:18953403|REF_RGD_ID:2313541 8991668 Adra2b adrenoceptor alpha 2B gene DOID:1826 epilepsy ISO RGD:731080 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8991668 Adra2b adrenoceptor alpha 2B gene DOID:5419 schizophrenia ISO RGD:731080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8991668 Adra2b adrenoceptor alpha 2B gene DOID:5844 myocardial infarction ISO RGD:731080 D RGD:9068941 20200609 RGD PMID:12535806|REF_RGD_ID:1559314 8991668 Adra2b adrenoceptor alpha 2B gene DOID:630 genetic disease ISO RGD:731080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8991668 Adra2b adrenoceptor alpha 2B gene DOID:684 hepatocellular carcinoma ISO RGD:731080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8991668 Adra2b adrenoceptor alpha 2B gene DOID:850 lung disease ISO RGD:731080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729197 8991668 Adra2b adrenoceptor alpha 2B gene DOID:9000781 Cyanosis ISO RGD:731080 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20729197 8991668 Adra2b adrenoceptor alpha 2B gene DOID:9002165 Diabetic Nephropathies ISO RGD:731080 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism (human) PMID:15660746|REF_RGD_ID:2313545 8991668 Adra2b adrenoceptor alpha 2B gene DOID:9007925 Sudden Cardiac Death ISO RGD:731080 D RGD:9068941 20200609 RGD PMID:12535806|REF_RGD_ID:1559314 8991668 Adra2b adrenoceptor alpha 2B gene DOID:9352 type 2 diabetes mellitus ISO RGD:731080 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17277585|REF_RGD_ID:2313543 8991668 Adra2b adrenoceptor alpha 2B gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:731080 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:17039423|REF_RGD_ID:2313544 8991668 Adra2b adrenoceptor alpha 2B gene DOID:9743 diabetic neuropathy ISO RGD:731080 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism (human) PMID:17516297|REF_RGD_ID:2313542 8991668 Adra2b adrenoceptor alpha 2B gene DOID:9970 obesity ISO RGD:731080 D RGD:9068941 20200609 RGD PMID:10404816|REF_RGD_ID:1300265 8991684 Slco3a1 solute carrier organic anion transporter family member 3A1 gene DOID:630 genetic disease ISO RGD:733471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991702 Slc4a7 solute carrier family 4 member 7 gene DOID:0110839 Usher syndrome type 2C ISO RGD:736860 D RGD:9068941 20220825 MouseDO OMIM:605472 8991702 Slc4a7 solute carrier family 4 member 7 gene DOID:3910 lung adenocarcinoma ISO RGD:730989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8991702 Slc4a7 solute carrier family 4 member 7 gene DOID:630 genetic disease ISO RGD:730989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991702 Slc4a7 solute carrier family 4 member 7 gene DOID:9006205 Animal Disease Models ISO RGD:730989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8991742 Msl2 MSL complex subunit 2 gene DOID:12849 autistic disorder ISO RGD:1343514 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 8991742 Msl2 MSL complex subunit 2 gene DOID:630 genetic disease ISO RGD:1343514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991742 Msl2 MSL complex subunit 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1343514 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 8991758 Klc2 kinesin light chain 2 gene DOID:0050563 nonsyndromic deafness ISO RGD:1316543 D RGD:9068941 20240321 MouseDO 8991758 Klc2 kinesin light chain 2 gene DOID:0060491 SPOAN syndrome ISO RGD:1603973 D RGD:7240710 20190315 OMIM 8991758 Klc2 kinesin light chain 2 gene DOID:0060491 SPOAN syndrome ISO RGD:1603973 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SPOAN syndrome PMID:24482476|PMID:25741868|PMID:26385635|PMID:28492532 8991758 Klc2 kinesin light chain 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1603973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8991758 Klc2 kinesin light chain 2 gene DOID:1059 intellectual disability ISO RGD:1603973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8991758 Klc2 kinesin light chain 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8991758 Klc2 kinesin light chain 2 gene DOID:2746 glycogen storage disease V ISO RGD:1603973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8991758 Klc2 kinesin light chain 2 gene DOID:630 genetic disease ISO RGD:1603973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8991758 Klc2 kinesin light chain 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1603973 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8991758 Klc2 kinesin light chain 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1603973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8991785 Crb2 crumbs cell polarity complex component 2 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1347869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25557779|PMID:25741868|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362 8991785 Crb2 crumbs cell polarity complex component 2 gene DOID:0111134 focal segmental glomerulosclerosis 9 ISO RGD:1347869 D RGD:7240710 20180130 OMIM 8991785 Crb2 crumbs cell polarity complex component 2 gene DOID:0111134 focal segmental glomerulosclerosis 9 ISO RGD:1347869 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 PMID:25557779|PMID:25741868|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362|PMID:33532864 8991785 Crb2 crumbs cell polarity complex component 2 gene DOID:0111625 ventriculomegaly - cystic kidney disease ISO RGD:1347869 D RGD:7240710 20180130 OMIM 8991785 Crb2 crumbs cell polarity complex component 2 gene DOID:0111625 ventriculomegaly - cystic kidney disease ISO RGD:1347869 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CRB2-related condition | ClinVar Annotator: match by term: Ventriculomegaly-cystic kidney disease PMID:25557779|PMID:25557780|PMID:25741868|PMID:26925547|PMID:27004616|PMID:27942854|PMID:28492532|PMID:30212996|PMID:30586318|PMID:30996265|PMID:32581362|PMID:36549870 8991785 Crb2 crumbs cell polarity complex component 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1551852 D RGD:9068941 20200609 RGD PMID:24493795|REF_RGD_ID:8552786 8991785 Crb2 crumbs cell polarity complex component 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1551852 D RGD:9068941 20220825 MouseDO OMIM:268000 8991785 Crb2 crumbs cell polarity complex component 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347869 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8991785 Crb2 crumbs cell polarity complex component 2 gene DOID:14791 Leber congenital amaurosis ISO RGD:1551852 D RGD:9068941 20200609 RGD PMID:24339791|REF_RGD_ID:8552784 8991785 Crb2 crumbs cell polarity complex component 2 gene DOID:630 genetic disease ISO RGD:1347869 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19344873|PMID:25557779|PMID:25741868|PMID:26795916|PMID:27004616|PMID:27535533|PMID:27942854|PMID:28492532|PMID:30212996|PMID:32581362 8991803 Jakmip1 janus kinase and microtubule interacting protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1619087 D RGD:9068941 20220825 MouseDO 8991803 Jakmip1 janus kinase and microtubule interacting protein 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1605275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 8991803 Jakmip1 janus kinase and microtubule interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1605275 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8991803 Jakmip1 janus kinase and microtubule interacting protein 1 gene DOID:12849 autistic disorder ISO RGD:1605275 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17519220 8991803 Jakmip1 janus kinase and microtubule interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991803 Jakmip1 janus kinase and microtubule interacting protein 1 gene DOID:6678 tooth and nail syndrome ISO RGD:1605275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 8991842 Ccnl2 cyclin L2 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8991842 Ccnl2 cyclin L2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319329 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 8991842 Ccnl2 cyclin L2 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8991842 Ccnl2 cyclin L2 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 8991842 Ccnl2 cyclin L2 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 8991842 Ccnl2 cyclin L2 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8991842 Ccnl2 cyclin L2 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8991842 Ccnl2 cyclin L2 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8991842 Ccnl2 cyclin L2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8991842 Ccnl2 cyclin L2 gene DOID:630 genetic disease ISO RGD:1319329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991842 Ccnl2 cyclin L2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8991842 Ccnl2 cyclin L2 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 8991842 Ccnl2 cyclin L2 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8991861 Crlf3 cytokine receptor like factor 3 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1342810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8991861 Crlf3 cytokine receptor like factor 3 gene DOID:1969 cerebral palsy ISO RGD:1342810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8991861 Crlf3 cytokine receptor like factor 3 gene DOID:630 genetic disease ISO RGD:1342810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991861 Crlf3 cytokine receptor like factor 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1342810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 8991873 Tac1 tachykinin precursor 1 gene DOID:0060180 colitis ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:18715640|REF_RGD_ID:2304260 8991873 Tac1 tachykinin precursor 1 gene DOID:0060500 drug allergy ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21233199 8991873 Tac1 tachykinin precursor 1 gene DOID:10124 corneal disease ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12824234 8991873 Tac1 tachykinin precursor 1 gene DOID:10914 amnestic disorder ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20600432|PMID:7562510|PMID:9521815 8991873 Tac1 tachykinin precursor 1 gene DOID:1205 allergic disease ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11160071 8991873 Tac1 tachykinin precursor 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:3807 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:10516226|REF_RGD_ID:5147822 8991873 Tac1 tachykinin precursor 1 gene DOID:12783 migraine without aura ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11304026 8991873 Tac1 tachykinin precursor 1 gene DOID:1470 major depressive disorder ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15845098 8991873 Tac1 tachykinin precursor 1 gene DOID:2841 asthma ISO RGD:619560 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11031342|REF_RGD_ID:5147836 8991873 Tac1 tachykinin precursor 1 gene DOID:3312 bipolar disorder ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15845098 8991873 Tac1 tachykinin precursor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8991873 Tac1 tachykinin precursor 1 gene DOID:4989 pancreatitis ISO RGD:11379 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, pancreas PMID:16369913|REF_RGD_ID:5147636 8991873 Tac1 tachykinin precursor 1 gene DOID:5419 schizophrenia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15845098 8991873 Tac1 tachykinin precursor 1 gene DOID:630 genetic disease ISO RGD:619560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991873 Tac1 tachykinin precursor 1 gene DOID:6432 pulmonary hypertension ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:12662901|REF_RGD_ID:5147638 8991873 Tac1 tachykinin precursor 1 gene DOID:8534 gastroesophageal reflux disease ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20616304 8991873 Tac1 tachykinin precursor 1 gene DOID:8986 narcolepsy ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17521418 8991873 Tac1 tachykinin precursor 1 gene DOID:9000197 Edema ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7508328 8991873 Tac1 tachykinin precursor 1 gene DOID:9000641 Pain ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:17493276|REF_RGD_ID:2304337 8991873 Tac1 tachykinin precursor 1 gene DOID:9000641 Pain ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10445233|PMID:7694222 8991873 Tac1 tachykinin precursor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16777450 8991873 Tac1 tachykinin precursor 1 gene DOID:9000784 Fibrosis ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28647476 8991873 Tac1 tachykinin precursor 1 gene DOID:9001109 Anorexia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30336258 8991873 Tac1 tachykinin precursor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:18326823|REF_RGD_ID:2304321 8991873 Tac1 tachykinin precursor 1 gene DOID:9001579 Neurogenic Inflammation ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17257769|PMID:17961222|PMID:20138590|PMID:21570423|PMID:9291295 8991873 Tac1 tachykinin precursor 1 gene DOID:9002211 Hyperalgesia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10499367|PMID:12351280|PMID:12787826|PMID:15626726|PMID:16259764|PMID:18234883|PMID:19231294|PMID:8864563|PMID:9714424 8991873 Tac1 tachykinin precursor 1 gene DOID:9002457 Experimental Arthritis ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9259450 8991873 Tac1 tachykinin precursor 1 gene DOID:9003132 Sialorrhea ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8938667 8991873 Tac1 tachykinin precursor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:11379 D RGD:9068941 20200609 RGD PMID:19797759|REF_RGD_ID:5147812 8991873 Tac1 tachykinin precursor 1 gene DOID:9005236 Drug Eruptions ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1371395 8991873 Tac1 tachykinin precursor 1 gene DOID:9005372 Inflammation ISO RGD:3807 D RGD:9068941 20200609 RGD protein:increased expression:neuron PMID:18053315|REF_RGD_ID:2304327 8991873 Tac1 tachykinin precursor 1 gene DOID:9005372 Inflammation ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14499429|PMID:21294877|PMID:30116771|PMID:8880065 8991873 Tac1 tachykinin precursor 1 gene DOID:9005968 Neuralgia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 8991873 Tac1 tachykinin precursor 1 gene DOID:9006024 Hypotension ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:18337316|REF_RGD_ID:2304320 8991873 Tac1 tachykinin precursor 1 gene DOID:9006024 Hypotension ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20138590|PMID:2445440 8991873 Tac1 tachykinin precursor 1 gene DOID:9006202 Pruritus ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652466 8991873 Tac1 tachykinin precursor 1 gene DOID:9007001 Bradycardia ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:2471579|REF_RGD_ID:2305984 8991873 Tac1 tachykinin precursor 1 gene DOID:9007001 Bradycardia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2445440|PMID:8960879 8991873 Tac1 tachykinin precursor 1 gene DOID:9007730 Burns ISO RGD:11379 D RGD:9068941 20200609 RGD protein:increased expression:plasma, lung PMID:19797759|REF_RGD_ID:5147812 8991873 Tac1 tachykinin precursor 1 gene DOID:9008385 Vomiting ISO RGD:619560 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31738934 8991873 Tac1 tachykinin precursor 1 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8938667|PMID:9622145 8991873 Tac1 tachykinin precursor 1 gene DOID:9009039 Hyperemia ISO RGD:619560 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10564113|PMID:7507874 8991873 Tac1 tachykinin precursor 1 gene DOID:9220 central sleep apnea ISO RGD:3807 D RGD:9068941 20200609 RGD PMID:18420958|REF_RGD_ID:2304275 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:21887725|PMID:25741868|PMID:26820365|PMID:28492532|PMID:30391667|PMID:30535908 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050451 Brugada syndrome ISO RGD:1348019 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17576681|PMID:20562447|PMID:21887725|PMID:23382873|PMID:25416190|PMID:25741868|PMID:26350513|PMID:26636822|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:29618732|PMID:29706348|PMID:30021168|PMID:30142439|PMID:33895855|PMID:619595|PMID:9536098 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050562 West syndrome ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypsarrhythmia PMID:25741868|PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050700 cardiomyopathy ISO RGD:1348019 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:21887725|PMID:23382873|PMID:25467552|PMID:25741868|PMID:26820365|PMID:27207958|PMID:27711072|PMID:28492532|PMID:33895855 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050793 short QT syndrome ISO RGD:1348019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:25741868 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0050820 atrioventricular block ISO RGD:1348019 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:32681584|PMID:33959666 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0060319 cardiac arrest ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0060319 cardiac arrest treatment ISO RGD:620244 D RGD:9068941 20200609 RGD PMID:26010685|REF_RGD_ID:12791997 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0080766 erythrokeratodermia variabilis et progressiva 6 ISO RGD:1348019 D RGD:7240710 20190904 OMIM 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0080766 erythrokeratodermia variabilis et progressiva 6 ISO RGD:1348019 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 6 PMID:16199547|PMID:17576681|PMID:25299611|PMID:25741868|PMID:26046366|PMID:26820365|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29568272|PMID:30142439|PMID:30391667|PMID:30528822|PMID:30535908|PMID:30615648|PMID:30847666|PMID:32233023|PMID:9536098 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111073 progressive familial heart block ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111074 progressive familial heart block type IA ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:20562447|PMID:21887725|PMID:28492532|PMID:30021168|PMID:619595 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111074 progressive familial heart block type IA ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1348019 D RGD:7240710 20180130 OMIM 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1348019 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB | ClinVar Annotator: match by term: TRPM4-related condition PMID:16199547|PMID:17576681|PMID:19726882|PMID:20075334|PMID:20562447|PMID:21173080|PMID:21887725|PMID:22750058|PMID:23382873|PMID:24019741|PMID:25231975|PMID:25299611|PMID:25416190|PMID:25441424|PMID:25467552|PMID:25640679|PMID:25741868|PMID:26046366|PMID:26272755|PMID:26350513|PMID:26383259|PMID:26636822|PMID:26704558|PMID:26820365|PMID:27181684|PMID:27207958|PMID:27711072|PMID:27727376|PMID:27884173|PMID:28074886|PMID:28315637|PMID:28341588|PMID:28492532|PMID:28494446|PMID:28750076|PMID:28831623|PMID:29181379|PMID:29247119|PMID:29568272|PMID:29618732|PMID:29706348|PMID:29748318|PMID:30021168|PMID:30086531|PMID:30142439|PMID:30391667|PMID:30528822|PMID:30535908|PMID:30615648|PMID:30662450|PMID:30847666|PMID:30975432|PMID:32233023|PMID:32508047|PMID:33466149|PMID:33673806|PMID:33895855|PMID:33919104|PMID:34495297|PMID:35288587|PMID:35932045|PMID:36352534|PMID:619595|PMID:897853|PMID:9536098 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:10273 heart conduction disease ISO RGD:1348019 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Conduction system disorder PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348019 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23382873|PMID:25741868|PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1348019 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:13620 patent foramen ovale ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868|PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:1826 epilepsy ISO RGD:1348019 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:1909 melanoma ISO RGD:1348019 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:2661 myoepithelioma ISO RGD:1348019 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:2843 long QT syndrome ISO RGD:1348019 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:21887725|PMID:23382873|PMID:25416190|PMID:25741868|PMID:26046366|PMID:26272755|PMID:26350513|PMID:26820365|PMID:27711072|PMID:28492532|PMID:30847666 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1348019 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:32233023 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:397 restrictive cardiomyopathy ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:6000 congestive heart failure ISO RGD:1348019 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33594499 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:630 genetic disease ISO RGD:1348019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21887725|PMID:25741868|PMID:28492532|PMID:32037394 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:620244 D RGD:9068941 20200609 RGD PMID:19169264|PMID:25763638|REF_RGD_ID:10003030|REF_RGD_ID:12791993 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:21887725|PMID:25741868|PMID:26820365|PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620244 D RGD:9068941 20200609 RGD protein:increased expression:entorhinal cortex PMID:24114458|REF_RGD_ID:10003028 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9001276 Failure to Thrive ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:21887725|PMID:23382873|PMID:25416190|PMID:25741868|PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9002554 Tachycardia ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Tachycardia PMID:25741868|PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1348019 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17576681|PMID:20562447|PMID:21887725|PMID:23382873|PMID:25416190|PMID:25741868|PMID:26350513|PMID:26636822|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:29618732|PMID:29706348|PMID:30021168|PMID:30142439|PMID:33895855|PMID:619595|PMID:9536098 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9003163 Heart Block ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:21887725|PMID:23382873|PMID:25416190|PMID:25741868|PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9003936 Cardiomegaly ISO RGD:620244 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:16966582|REF_RGD_ID:10003036 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9004659 Respiration Disorders ISO RGD:1348019 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:30789900 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9007001 Bradycardia ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bradycardia PMID:25741868|PMID:28492532 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9007820 Sudden Death ISO RGD:1348019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:25741868 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death | ClinVar Annotator: match by term: Sudden cardiac death PMID:21887725|PMID:23382873|PMID:24019741|PMID:25416190|PMID:25741868|PMID:26350513|PMID:28074886|PMID:28492532|PMID:30142439 8991887 Trpm4 transient receptor potential cation channel subfamily M member 4 gene DOID:9009094 Progressive Familial Heart Block Type I ISO RGD:1348019 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:20562447|PMID:21887725|PMID:23382873|PMID:26350513|PMID:26820365|PMID:27207958|PMID:27884173|PMID:28341588|PMID:28492532|PMID:30021168|PMID:30142439|PMID:619595 8991919 Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604788 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8991919 Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604788 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8991919 Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:630 genetic disease ISO RGD:1604788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991919 Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8991955 Slc25a33 solute carrier family 25 member 33 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8991955 Slc25a33 solute carrier family 25 member 33 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604265 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8991955 Slc25a33 solute carrier family 25 member 33 gene DOID:630 genetic disease ISO RGD:1604265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991955 Slc25a33 solute carrier family 25 member 33 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8991966 Lsm4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:1936 atherosclerosis ISO RGD:1315632 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 8991966 Lsm4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1315632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991966 Lsm4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1315632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 8991975 Cpped1 calcineurin like phosphoesterase domain containing 1 gene DOID:5419 schizophrenia ISO RGD:1602325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8991975 Cpped1 calcineurin like phosphoesterase domain containing 1 gene DOID:630 genetic disease ISO RGD:1602325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991985 Csnk1g2 casein kinase 1 gamma 2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:734368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8991985 Csnk1g2 casein kinase 1 gamma 2 gene DOID:5339 cyclic hematopoiesis ISO RGD:734368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8991985 Csnk1g2 casein kinase 1 gamma 2 gene DOID:630 genetic disease ISO RGD:734368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8991985 Csnk1g2 casein kinase 1 gamma 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8992011 Tmem260 transmembrane protein 260 gene DOID:0060060 non-Hodgkin lymphoma disease_progression ISO RGD:1354503 D RGD:9068941 20230128 RGD DNA:SNP: 3'UTR:rs4901706 (human) PMID:24831772|REF_RGD_ID:155882447 8992011 Tmem260 transmembrane protein 260 gene DOID:0081312 T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1354503 D RGD:9068941 20230128 RGD DNA:SNP: 3'UTR:rs4901706 (human) PMID:24831772|REF_RGD_ID:155882447 8992011 Tmem260 transmembrane protein 260 gene DOID:10534 stomach cancer susceptibility ISO RGD:1354503 D RGD:9068941 20230128 RGD DNA:SNP: 3'UTR:rs4901706 (human) PMID:27602096|REF_RGD_ID:155882453 8992011 Tmem260 transmembrane protein 260 gene DOID:630 genetic disease ISO RGD:1354503 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8992011 Tmem260 transmembrane protein 260 gene DOID:9005528 Structural Heart Defects and Renal Anomalies Syndrome ISO RGD:1354503 D RGD:7240710 20190315 OMIM 8992011 Tmem260 transmembrane protein 260 gene DOID:9005528 Structural Heart Defects and Renal Anomalies Syndrome ISO RGD:1354503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Structural heart defects and renal anomalies syndrome | ClinVar Annotator: match by term: Type I truncus arteriosus PMID:25741868|PMID:28318500|PMID:28492532|PMID:32860008|PMID:34612517 8992031 Gpr88 G protein-coupled receptor 88 gene DOID:630 genetic disease ISO RGD:735493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8992031 Gpr88 G protein-coupled receptor 88 gene DOID:9003973 Childhood-Onset Chorea with Psychomotor Retardation ISO RGD:735493 D RGD:7240710 20190315 OMIM 8992031 Gpr88 G protein-coupled receptor 88 gene DOID:9003973 Childhood-Onset Chorea with Psychomotor Retardation ISO RGD:735493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation PMID:25741868|PMID:27123486|PMID:28492532 8992031 Gpr88 G protein-coupled receptor 88 gene DOID:9269 maple syrup urine disease ISO RGD:735493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 8992036 Slc35b1 solute carrier family 35 member B1 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1351742 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 8992036 Slc35b1 solute carrier family 35 member B1 gene DOID:630 genetic disease ISO RGD:1351742 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992053 Leprot leptin receptor overlapping transcript gene DOID:1059 intellectual disability ISO RGD:1353937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8992053 Leprot leptin receptor overlapping transcript gene DOID:630 genetic disease ISO RGD:1353937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992053 Leprot leptin receptor overlapping transcript gene DOID:9004946 Leptin Receptor Deficiency ISO RGD:1353937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leptin receptor deficiency PMID:28492532 8992053 Leprot leptin receptor overlapping transcript gene DOID:9970 obesity ISO RGD:1353937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity PMID:28492532 8992061 Sobp sine oculis binding protein homolog gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1605982 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 8992061 Sobp sine oculis binding protein homolog gene DOID:630 genetic disease ISO RGD:1605982 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8992061 Sobp sine oculis binding protein homolog gene DOID:9004901 INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS ISO RGD:1605982 D RGD:7240710 20180130 OMIM 8992061 Sobp sine oculis binding protein homolog gene DOID:9004901 INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS ISO RGD:1605982 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus PMID:17618476|PMID:18414213|PMID:21035105|PMID:25741868|PMID:28492532 8992088 Gpr34 G protein-coupled receptor 34 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8992088 Gpr34 G protein-coupled receptor 34 gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1349710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:23901204|PMID:26235985|PMID:28492532 8992088 Gpr34 G protein-coupled receptor 34 gene DOID:0060807 syndromic X-linked intellectual disability Najm type ISO RGD:1349710 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:19165920|PMID:20029458|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22709267|PMID:23901204|PMID:28492532 8992088 Gpr34 G protein-coupled receptor 34 gene DOID:12849 autistic disorder ISO RGD:1349710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8992088 Gpr34 G protein-coupled receptor 34 gene DOID:5119 ovarian cyst ISO RGD:1349710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 8992088 Gpr34 G protein-coupled receptor 34 gene DOID:630 genetic disease ISO RGD:1349710 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992088 Gpr34 G protein-coupled receptor 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8992097 Rpl35a ribosomal protein L35a gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:733438 D RGD:7240710 20180130 OMIM 8992097 Rpl35a ribosomal protein L35a gene DOID:0111883 Diamond-Blackfan anemia 5 ISO RGD:733438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition PMID:16199547|PMID:17576681|PMID:18535205|PMID:22262766|PMID:22689679|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532|PMID:32241839|PMID:9536098 8992097 Rpl35a ribosomal protein L35a gene DOID:1339 Diamond-Blackfan anemia ISO RGD:733438 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:18535205|PMID:25424902|PMID:25741868|PMID:25946618|PMID:28492532|PMID:29146883 8992097 Rpl35a ribosomal protein L35a gene DOID:3068 glioblastoma ISO RGD:733438 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:10880769|REF_RGD_ID:11535077 8992114 Mybphl myosin binding protein H like gene DOID:0050451 Brugada syndrome ISO RGD:1606910 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25741868|PMID:28778945 8992114 Mybphl myosin binding protein H like gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8992114 Mybphl myosin binding protein H like gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1606910 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 8992114 Mybphl myosin binding protein H like gene DOID:12849 autistic disorder ISO RGD:1606910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8992114 Mybphl myosin binding protein H like gene DOID:2843 long QT syndrome ISO RGD:1606910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 8992114 Mybphl myosin binding protein H like gene DOID:630 genetic disease ISO RGD:1606910 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8992114 Mybphl myosin binding protein H like gene DOID:9008386 Hydrops Fetalis ISO RGD:1606910 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis 8992146 Morn2 MORN repeat containing 2 gene DOID:0080690 RASopathy ISO RGD:2303892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8992146 Morn2 MORN repeat containing 2 gene DOID:3883 Lynch syndrome ISO RGD:2303892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8992146 Morn2 MORN repeat containing 2 gene DOID:630 genetic disease ISO RGD:2303892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992146 Morn2 MORN repeat containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303892 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8992158 Arhgap17 Rho GTPase activating protein 17 gene DOID:630 genetic disease ISO RGD:1343283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992158 Arhgap17 Rho GTPase activating protein 17 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:628767 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:2835 D RGD:9068941 20240215 RGD protein:increased expression:placenta (rat) PMID:26342748|REF_RGD_ID:401965481 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:737468 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:2835 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:kidney PMID:10792625|REF_RGD_ID:2308925 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:2835 D RGD:9068941 20220204 RGD PMID:26077568|REF_RGD_ID:13800514 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11082157|PMID:7670488|PMID:9683905|PMID:9707624 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:10763 hypertension ISO RGD:737468 D RGD:9068941 20200609 RGD apparent mineralocorticoid excess syndrome, OMIM:218030; DNA:transition:CDS:945C->T, amino acid R279C PMID:9683587|REF_RGD_ID:1625078 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:1184 nephrotic syndrome ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15199296 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:2841 asthma ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11932298 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:737468 D RGD:7240710 20180130 OMIM 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:4367 apparent mineralocorticoid excess syndrome ISO RGD:737468 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Apparent mineralocorticoid excess | ClinVar Annotator: match by term: Apparent mineralocorticoid excess, mild PMID:10536001|PMID:11114699|PMID:11238516|PMID:12788846|PMID:15126515|PMID:15134813|PMID:15673310|PMID:16778331|PMID:17314322|PMID:20571110|PMID:23303402|PMID:24123366|PMID:25593612|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33532864|PMID:3860318|PMID:7593417|PMID:7593456|PMID:7608290|PMID:7670488|PMID:9398712|PMID:9683587|PMID:9707624|PMID:9851783 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5082 liver cirrhosis ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15199296 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5199 ureteral obstruction ISO RGD:2835 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17475897|REF_RGD_ID:2308940 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5844 myocardial infarction ISO RGD:2835 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:17587755|REF_RGD_ID:2308939 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:5844 myocardial infarction ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17587755 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:737468 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:655 inherited metabolic disorder ISO RGD:737468 D RGD:9068941 20200609 RGD apparent mineralocorticoid excess syndrome, OMIM:218030; DNA:transition:CDS:945C->T, amino acid R279C PMID:9683587|REF_RGD_ID:1625078 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2835 D RGD:9068941 20200609 RGD associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney PMID:17272666|REF_RGD_ID:2308941 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9004702 Pregnancy Complications ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11932298 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737468 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skeletal muscle PMID:17519316|REF_RGD_ID:2308922 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737468 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16616286 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737468 D RGD:9068941 20200609 RGD PMID:11916625|PMID:16616286|REF_RGD_ID:2308923|REF_RGD_ID:2308924 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9970 obesity ISO RGD:2835 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue:subcutaneous not retroperitoneal fat PMID:17208436|REF_RGD_ID:1625081 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9970 obesity resistance ISO RGD:10735 D RGD:9068941 20200609 RGD transgenic mice expressing human HSD11B2 PMID:15793240|REF_RGD_ID:1625083 8992201 Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 gene DOID:9970 obesity resistance ISO RGD:737468 D RGD:9068941 20200609 RGD transgenic mice expressing human HSD11B2 PMID:15793240|REF_RGD_ID:1625083 8992209 Mlh1 mutL homolog 1 gene DOID:0050465 Muir-Torre syndrome ISO RGD:733729 D RGD:7240710 20180130 OMIM 8992209 Mlh1 mutL homolog 1 gene DOID:0050465 Muir-Torre syndrome ISO RGD:733729 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome PMID:10037723|PMID:10422993|PMID:10660333|PMID:10713887|PMID:10874307|PMID:10995807|PMID:11208710|PMID:11343035|PMID:11427529|PMID:11585727|PMID:11793442|PMID:11920650|PMID:11948175|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12810663|PMID:14635101|PMID:15173238|PMID:15475387|PMID:15655560|PMID:15713769|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15926618|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17210669|PMID:17312306|PMID:17510385|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18307539|PMID:18383312|PMID:18561205|PMID:18726168|PMID:19116412|PMID:19324997|PMID:19690142|PMID:19731080|PMID:20045164|PMID:20052760|PMID:20233461|PMID:20924129|PMID:21056691|PMID:21120944|PMID:21247423|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21868491|PMID:22692065|PMID:22736432|PMID:22776989|PMID:22843852|PMID:22949379|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23729658|PMID:23741719|PMID:24032978|PMID:24033266|PMID:2414824|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24456667|PMID:25085752|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25741868|PMID:26247049|PMID:26437257|PMID:26467025|PMID:26552419|PMID:26659639|PMID:26681312|PMID:26743599|PMID:27064304|PMID:27300552|PMID:27363726|PMID:27498913|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27978560|PMID:28445943|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29238914|PMID:29345684|PMID:29520894|PMID:29596542|PMID:29706640|PMID:29887214|PMID:30077346|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30324682|PMID:30504929|PMID:30521064|PMID:30833958|PMID:30982232|PMID:31118792|PMID:31248605|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31491536|PMID:31660093|PMID:32040686|PMID:32076465|PMID:32587781|PMID:32635641|PMID:32719484|PMID:32809219|PMID:32980694|PMID:33471991|PMID:34359559|PMID:34504932|PMID:35223509|PMID:36054288|PMID:36627197|PMID:4063166|PMID:7705822|PMID:8198129|PMID:8571956|PMID:8751876|PMID:8776590|PMID:8872463|PMID:8880570|PMID:9311737|PMID:9377556|PMID:9536098|PMID:9697702|PMID:9927033 8992209 Mlh1 mutL homolog 1 gene DOID:0060058 lymphoma ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15700306 8992209 Mlh1 mutL homolog 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:733729 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:08808596|PMID:10037723|PMID:10082584|PMID:10199405|PMID:10323887|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10799973|PMID:10829038|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10995807|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11292842|PMID:11343035|PMID:11376800|PMID:11385712|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11870161|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919140|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15235038|PMID:15253764|PMID:15256438|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16199547|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17250665|PMID:17267619|PMID:17312306|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18301448|PMID:18307539|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18470917|PMID:18547406|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19360343|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19931546|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20413677|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22081473|PMID:22136435|PMID:22290698|PMID:22322191|PMID:22426235|PMID:22453149|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23329266 8992209 Mlh1 mutL homolog 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:733729 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:23354634|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23544471|PMID:23588873|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:23797718|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24090359|PMID:24278394|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24933000|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25712765|PMID:25741868|PMID:25782445|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26552419|PMID:26580448|PMID:26628864|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26895986|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27295708|PMID:27363726|PMID:27435373|PMID:27449771|PMID:27487738|PMID:27498913|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27831900|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28643016|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29478780|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29684080|PMID:29752822|PMID:29785566|PMID:29866690|PMID:29887214|PMID:30019097|PMID:30077346|PMID:30093976|PMID:30212499|PMID:30256826|PMID:30262796|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31248605|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31491536|PMID:31494577|PMID:31650731|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31881334|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32678338|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32832836|PMID:32849802|PMID:33199489|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33693762|PMID:33768299|PMID:33809179|PMID:34039291|PMID:34178123|PMID:34404389|PMID:34545850|PMID:34680242|PMID:35014770|PMID:35223509|PMID:35263119|PMID:35467778|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:661956|PMID:7557107|PMID:7584997|PMID:7705822|PMID:7757073|PMID:8198129|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8940269|PMID:9071575|PMID:9218993|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9697702|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 8992209 Mlh1 mutL homolog 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:733729 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:08808596|PMID:10037723|PMID:10082584|PMID:10323887|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10799973|PMID:10829038|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10995807|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11343035|PMID:11376800|PMID:11385712|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11870161|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919140|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15235038|PMID:15253764|PMID:15256438|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16199547|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17250665|PMID:17267619|PMID:17312306|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18301448|PMID:18307539|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19360343|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19931546|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22081473|PMID:22136435|PMID:22290698|PMID:22322191|PMID:22453149|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23329266|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23544471|PMID:23588873|PMID:23640085|PMID:23695190 8992209 Mlh1 mutL homolog 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:733729 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:23729658|PMID:23741719|PMID:23760103|PMID:23797718|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24090359|PMID:24278394|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24933000|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25712765|PMID:25741868|PMID:25782445|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26552419|PMID:26580448|PMID:26628864|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26895986|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27295708|PMID:27363726|PMID:27435373|PMID:27487738|PMID:27498913|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27831900|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28643016|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29478780|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29752822|PMID:29785566|PMID:29866690|PMID:29887214|PMID:30019097|PMID:30077346|PMID:30093976|PMID:30212499|PMID:30256826|PMID:30262796|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31248605|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31650731|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31830689|PMID:31857677|PMID:31881334|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32295079|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32678338|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32761968|PMID:32832836|PMID:32849802|PMID:33199489|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33693762|PMID:33768299|PMID:33809179|PMID:34039291|PMID:34178123|PMID:34545850|PMID:34680242|PMID:35014770|PMID:35223509|PMID:35467778|PMID:36073783|PMID:36593122|PMID:36627197|PMID:36988593|PMID:4063166|PMID:661956|PMID:7557107|PMID:7584997|PMID:7705822|PMID:7728749|PMID:7757073|PMID:8198129|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8940269|PMID:9071575|PMID:9218993|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9697702|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 8992209 Mlh1 mutL homolog 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:08808596|PMID:10037723|PMID:10082584|PMID:10323887|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10799973|PMID:10829038|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10995807|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11343035|PMID:11376800|PMID:11385712|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11870161|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12519945|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919140|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15235038|PMID:15253764|PMID:15256438|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17250665|PMID:17267619|PMID:17312306|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18301448|PMID:18307539|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19360343|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19931546|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22081473|PMID:22136435|PMID:22290698|PMID:22322191|PMID:22453149|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23329266|PMID:23354634 8992209 Mlh1 mutL homolog 1 gene DOID:0070271 Lynch syndrome 1 ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II PMID:23403630|PMID:23431106|PMID:23523604|PMID:23544471|PMID:23588873|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:23797718|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24090359|PMID:24278394|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24933000|PMID:25060679|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25712765|PMID:25741868|PMID:25782445|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26552419|PMID:26580448|PMID:26628864|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26895986|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27295708|PMID:27300552|PMID:27329137|PMID:27363726|PMID:27435373|PMID:27487738|PMID:27498913|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27831900|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28591715|PMID:28643016|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29184699|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29478780|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29752822|PMID:29785566|PMID:29866690|PMID:29887214|PMID:30019097|PMID:30077346|PMID:30093976|PMID:30212499|PMID:30256826|PMID:30262796|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31248605|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31650731|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31830689|PMID:31857677|PMID:31881334|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32295079|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32678338|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32761968|PMID:32832836|PMID:32849802|PMID:32980694|PMID:33199489|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33693762|PMID:33768299|PMID:33809179|PMID:34039291|PMID:34178123|PMID:34545850|PMID:34680242|PMID:35014770|PMID:35223509|PMID:35467778|PMID:36054288|PMID:36073783|PMID:36593122|PMID:36627197|PMID:36988593|PMID:4063166|PMID:661956|PMID:7557107|PMID:7584997|PMID:7705822|PMID:7728749|PMID:7757073|PMID:8198129|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8940269|PMID:9071575|PMID:9218993|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9697702|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 8992209 Mlh1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:7240710 20180130 OMIM 8992209 Mlh1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II | ClinVar Annotator: match by term: MLH1-related condition PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11389087|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205 8992209 Mlh1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II | ClinVar Annotator: match by term: MLH1-related condition PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864418|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21785361|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765 8992209 Mlh1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II | ClinVar Annotator: match by term: MLH1-related condition PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27329137|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29866690|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30614234|PMID:30623411|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31248605|PMID:31273885|PMID:31289279|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32241160|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32756484|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33046448|PMID:33191490|PMID:33253688|PMID:33260537|PMID:33281875|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210 8992209 Mlh1 mutL homolog 1 gene DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II | ClinVar Annotator: match by term: MLH1-related condition PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35475445|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36454741|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37433431|PMID:661956|PMID:7557107|PMID:7584997|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9699680|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:733729 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MMR DEFICIENCY PMID:10422993|PMID:10713887|PMID:10874307|PMID:10995807|PMID:11208710|PMID:11343035|PMID:11585727|PMID:11920650|PMID:12658575|PMID:14635101|PMID:15173238|PMID:15655560|PMID:15713769|PMID:15849733|PMID:15870828|PMID:15996210|PMID:16181381|PMID:16769400|PMID:17312306|PMID:17889038|PMID:18307539|PMID:18561205|PMID:18726168|PMID:19116412|PMID:19690142|PMID:19731080|PMID:20045164|PMID:20052760|PMID:20233461|PMID:20924129|PMID:21056691|PMID:21247423|PMID:21636617|PMID:21681552|PMID:21868491|PMID:22776989|PMID:23047549|PMID:24033266|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24456667|PMID:25085752|PMID:25525159|PMID:25741868|PMID:26437257|PMID:26467025|PMID:26681312|PMID:27064304|PMID:27300552|PMID:27498913|PMID:27601186|PMID:27606285|PMID:27978560|PMID:28445943|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28874130|PMID:28944238|PMID:29238914|PMID:29345684|PMID:30077346|PMID:30262796|PMID:30322717|PMID:30521064|PMID:30982232|PMID:31118792|PMID:31248605|PMID:31391288|PMID:32040686|PMID:32635641|PMID:32980694|PMID:35223509|PMID:36627197|PMID:8872463|PMID:9377556|PMID:9927033 8992209 Mlh1 mutL homolog 1 gene DOID:10534 stomach cancer ISO RGD:733729 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10471527|PMID:11151427|PMID:12183410|PMID:12362047|PMID:12547705|PMID:12624141|PMID:12655568|PMID:14871975|PMID:14961575|PMID:15300854|PMID:15309712|PMID:15713769|PMID:15849733|PMID:16199547|PMID:16216036|PMID:16341550|PMID:16451135|PMID:17453009|PMID:17569143|PMID:17576681|PMID:18561205|PMID:19690142|PMID:19731080|PMID:20233461|PMID:21034533|PMID:21311894|PMID:21681552|PMID:22886683|PMID:23760103|PMID:24333619|PMID:24362816|PMID:25110875|PMID:25430799|PMID:25525159|PMID:25712765|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26248088|PMID:26300997|PMID:26437257|PMID:26467025|PMID:27435373|PMID:27601186|PMID:27696107|PMID:28127413|PMID:28492532|PMID:28643016|PMID:29212164|PMID:29237405|PMID:29887214|PMID:30256826|PMID:30504929|PMID:30521064|PMID:31942411|PMID:32761968|PMID:36988593|PMID:8571956|PMID:9536098 8992209 Mlh1 mutL homolog 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733729 D RGD:9068941 20200609 RGD PMID:15296997|REF_RGD_ID:2293518 8992209 Mlh1 mutL homolog 1 gene DOID:1324 lung cancer ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:25420488|PMID:26845104|PMID:28492532|PMID:30702970 8992209 Mlh1 mutL homolog 1 gene DOID:1324 lung cancer no_association ISO RGD:733729 D RGD:9068941 20210430 RGD DNA:SNP: :9452A>T (rs1540354) (human) PMID:21093954|REF_RGD_ID:126848792 8992209 Mlh1 mutL homolog 1 gene DOID:1324 lung cancer susceptibility ISO RGD:733729 D RGD:9068941 20210507 RGD DNA:SNP: :rs1800734 (human) PMID:25252909|REF_RGD_ID:126848798 8992209 Mlh1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30274973|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:8521398|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 8992209 Mlh1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30274973|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:8521398|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 8992209 Mlh1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10612827|PMID:10660333|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11793442|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20717847|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22480969|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27602174|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31815095|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:7757073|PMID:8521398|PMID:8571956|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 8992209 Mlh1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10612827|PMID:10660333|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11793442|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20007843|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20717847|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22480969|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27363726|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27602174|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29752822|PMID:29755653|PMID:29887214|PMID:30013564|PMID:30077346|PMID:30212499|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31386297|PMID:31391288|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31815095|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:7757073|PMID:8521398|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627 8992209 Mlh1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:9611074|PMID:9697702|PMID:9845760 8992209 Mlh1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10612827|PMID:10660333|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:10995807|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11793442|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16237216|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20007843|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20717847|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22480969|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27300552|PMID:27363726|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27602174|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767177|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29752822|PMID:29755653|PMID:29887214|PMID:30013564|PMID:30077346|PMID:30212499|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31386297|PMID:31391288|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31815095|PMID:31857677|PMID:31881334|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:35449176|PMID:7757073|PMID:8521398|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575 8992209 Mlh1 mutL homolog 1 gene DOID:1520 colon carcinoma ISO RGD:733729 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760 8992209 Mlh1 mutL homolog 1 gene DOID:1612 breast cancer ISO RGD:733729 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10446963|PMID:10713887|PMID:11606497|PMID:11726306|PMID:11839723|PMID:11920650|PMID:12095971|PMID:15520370|PMID:15943554|PMID:16203774|PMID:16395668|PMID:17011982|PMID:17117178|PMID:17453009|PMID:17510385|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18561205|PMID:18566915|PMID:18809606|PMID:19117025|PMID:19224586|PMID:20373145|PMID:21404117|PMID:21671475|PMID:21681552|PMID:22252508|PMID:22703879|PMID:22736432|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23573243|PMID:24033266|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24728327|PMID:25186627|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27498913|PMID:27601186|PMID:28466842|PMID:28492532|PMID:28767289|PMID:28874130|PMID:29520894|PMID:29684080|PMID:30504929|PMID:30998989|PMID:31332305|PMID:31391288|PMID:31784484|PMID:32659497|PMID:33471991|PMID:33821390|PMID:34250417|PMID:35467778|PMID:36054288|PMID:9506527|PMID:9718327 8992209 Mlh1 mutL homolog 1 gene DOID:1612 breast cancer ISO RGD:733729 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10446963|PMID:10713887|PMID:11606497|PMID:11726306|PMID:11839723|PMID:11920650|PMID:12095971|PMID:15520370|PMID:15943554|PMID:16203774|PMID:16395668|PMID:17011982|PMID:17117178|PMID:17453009|PMID:17510385|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18561205|PMID:18566915|PMID:18809606|PMID:19117025|PMID:19224586|PMID:20373145|PMID:21404117|PMID:21671475|PMID:21681552|PMID:22252508|PMID:22703879|PMID:22736432|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23573243|PMID:24033266|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27498913|PMID:27601186|PMID:28466842|PMID:28492532|PMID:28767289|PMID:28874130|PMID:29520894|PMID:29684080|PMID:30504929|PMID:30998989|PMID:31332305|PMID:31391288|PMID:31784484|PMID:32659497|PMID:33471991|PMID:33821390|PMID:34250417|PMID:35467778|PMID:36054288|PMID:9506527|PMID:9718327 8992209 Mlh1 mutL homolog 1 gene DOID:1612 breast cancer ISO RGD:733729 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10446963|PMID:10713887|PMID:11606497|PMID:11726306|PMID:11839723|PMID:11920650|PMID:12095971|PMID:15520370|PMID:15943554|PMID:16203774|PMID:16395668|PMID:17011982|PMID:17117178|PMID:17453009|PMID:17510385|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18561205|PMID:18566915|PMID:18809606|PMID:19117025|PMID:19224586|PMID:20373145|PMID:21255554|PMID:21404117|PMID:21671475|PMID:21681552|PMID:22252508|PMID:22703879|PMID:22736432|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23573243|PMID:24033266|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27363726|PMID:27498913|PMID:27601186|PMID:28466842|PMID:28492532|PMID:28503720|PMID:28767289|PMID:28874130|PMID:29520894|PMID:29684080|PMID:30504929|PMID:30998989|PMID:31332305|PMID:31391288|PMID:31784484|PMID:32659497|PMID:33471991|PMID:33821390|PMID:34250417|PMID:35467778|PMID:36054288|PMID:37270516|PMID:37433431|PMID:8809606|PMID:9506527|PMID:9718327 8992209 Mlh1 mutL homolog 1 gene DOID:1749 squamous cell carcinoma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 8992209 Mlh1 mutL homolog 1 gene DOID:1791 peritoneal carcinoma ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary peritoneal carcinoma PMID:25741868 8992209 Mlh1 mutL homolog 1 gene DOID:219 colon cancer ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colon cancer | ClinVar Annotator: match by term: Malignant tumor of colon PMID:08808596|PMID:10349986|PMID:10480359|PMID:10732761|PMID:11112663|PMID:11151427|PMID:11385712|PMID:11429708|PMID:11555625|PMID:11601928|PMID:11781295|PMID:11948175|PMID:12112654|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12522551|PMID:12547705|PMID:12618391|PMID:12810663|PMID:12919140|PMID:14514376|PMID:14635101|PMID:15300854|PMID:15571801|PMID:15713769|PMID:15849733|PMID:15996210|PMID:16199547|PMID:16216036|PMID:16237216|PMID:16341550|PMID:16395668|PMID:16451135|PMID:16830052|PMID:17026620|PMID:17135187|PMID:17192056|PMID:17453009|PMID:17510385|PMID:17576681|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19698169|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20215533|PMID:20223024|PMID:20233461|PMID:21387278|PMID:21404117|PMID:21598002|PMID:21642682|PMID:22252508|PMID:22322191|PMID:22949379|PMID:22949387|PMID:23403630|PMID:23702729|PMID:23797718|PMID:24033266|PMID:24278394|PMID:24362816|PMID:24456667|PMID:25085752|PMID:25117503|PMID:25741868|PMID:26248088|PMID:26300997|PMID:26467025|PMID:26681312|PMID:26845104|PMID:27978560|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28492532|PMID:28874130|PMID:29506128|PMID:29752822|PMID:30521064|PMID:30723297|PMID:31054147|PMID:31350202|PMID:31491536|PMID:31948886|PMID:33693762|PMID:34039291|PMID:34178123|PMID:34680242|PMID:35313100|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8808596|PMID:9311737|PMID:9536098|PMID:9697702|PMID:9806477 8992209 Mlh1 mutL homolog 1 gene DOID:219 colon cancer disease_progression ISO RGD:733729 D RGD:9068941 20210430 RGD PMID:28411881|REF_RGD_ID:126790577 8992209 Mlh1 mutL homolog 1 gene DOID:2394 ovarian cancer ISO RGD:733729 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:22216297|PMID:23047549|PMID:23573243|PMID:24033266|PMID:25085752|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30086788|PMID:30267214|PMID:30324682|PMID:32068069|PMID:32255556|PMID:32566746|PMID:33471991|PMID:34172528 8992209 Mlh1 mutL homolog 1 gene DOID:2394 ovarian cancer ISO RGD:733729 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:22216297|PMID:23047549|PMID:23573243|PMID:24033266|PMID:25085752|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30086788|PMID:30267214|PMID:30324682|PMID:32068069|PMID:32255556|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34172528 8992209 Mlh1 mutL homolog 1 gene DOID:2394 ovarian cancer ISO RGD:733729 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22216297|PMID:23047549|PMID:2357243|PMID:23573243|PMID:24033266|PMID:25085752|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30086788|PMID:30267214|PMID:30324682|PMID:32068069|PMID:32255556|PMID:32566746|PMID:32658311|PMID:32980694|PMID:33471991|PMID:34172528 8992209 Mlh1 mutL homolog 1 gene DOID:2871 endometrial carcinoma ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10323887|PMID:10349986|PMID:10480359|PMID:10732761|PMID:11112663|PMID:11385712|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11781295|PMID:11948175|PMID:12112654|PMID:12115348|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12522551|PMID:12547705|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12810663|PMID:12919140|PMID:14871975|PMID:15133479|PMID:15300854|PMID:15309712|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16830052|PMID:16995940|PMID:17026620|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:18373977|PMID:18383312|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18772310|PMID:19224586|PMID:19248199|PMID:19267393|PMID:19419416|PMID:19690142|PMID:19698169|PMID:19863800|PMID:20020535|PMID:20215533|PMID:20233461|PMID:20305446|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21311894|PMID:21404117|PMID:21598002|PMID:21681552|PMID:22322191|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23329266|PMID:23403630|PMID:23695190|PMID:23760103|PMID:23797718|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25107687|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25637381|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26248088|PMID:26300997|PMID:26332594|PMID:26437257|PMID:26467025|PMID:26666765|PMID:26681312|PMID:26845104|PMID:26895986|PMID:27153395|PMID:27435373|PMID:27535758|PMID:27600092|PMID:27601186|PMID:27696107|PMID:28127413|PMID:28135145|PMID:28449805|PMID:28492532|PMID:28643016|PMID:28874130|PMID:29212164|PMID:29237405|PMID:29752822|PMID:29887214|PMID:30256826|PMID:30521064|PMID:31054147|PMID:31159747|PMID:31350202|PMID:31491536|PMID:31784484|PMID:31948886|PMID:32295079|PMID:32849802|PMID:33471991|PMID:34039291|PMID:34326862|PMID:34408140|PMID:34680242|PMID:36988593|PMID:7728749|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8592341|PMID:8797773|PMID:8872463|PMID:9322509|PMID:9490293|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9806477|PMID:9833759 8992209 Mlh1 mutL homolog 1 gene DOID:2876 laryngeal squamous cell carcinoma disease_progression ISO RGD:733729 D RGD:9068941 20210430 RGD mRNA:decreased expression:larynx PMID:23787767|REF_RGD_ID:126848783 8992209 Mlh1 mutL homolog 1 gene DOID:3459 breast carcinoma ISO RGD:733729 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:15713769|PMID:16083711|PMID:17510385|PMID:20020535|PMID:20533529|PMID:21120944|PMID:21404117|PMID:23403630|PMID:24362816|PMID:25741868|PMID:27363726|PMID:28492532|PMID:28643016 8992209 Mlh1 mutL homolog 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:15340264|PMID:17510385|PMID:18307539|PMID:19419416|PMID:22136435|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25823662|PMID:28492532 8992209 Mlh1 mutL homolog 1 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:733729 D RGD:9068941 20210430 RGD DNA, protein:hypermethylation, decreased expression:promoter, esophagus PMID:21674174|REF_RGD_ID:126790574 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23712482|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32849802|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9482749|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23712482|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:34504932|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34172528|PMID:34359559|PMID:34404389|PMID:34504932|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35467778|PMID:36073783|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12891553|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36073783|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36054288|PMID:36073783|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35014770|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35475445|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32165824|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35014770|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35014770|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25579085|PMID:25617771|PMID:25637381 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35014770|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36454741|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12519945|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12891553|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30578687|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824 8992209 Mlh1 mutL homolog 1 gene DOID:3883 Lynch syndrome ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36454741|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37433431|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:3905 lung carcinoma ISO RGD:620937 D RGD:9068941 20200609 RGD PMID:21530494|REF_RGD_ID:10045659 8992209 Mlh1 mutL homolog 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:733729 D RGD:9068941 20210430 RGD PMID:32211850|REF_RGD_ID:126848780 8992209 Mlh1 mutL homolog 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:733729 D RGD:9068941 20210507 RGD PMID:18370958|REF_RGD_ID:126848801 8992209 Mlh1 mutL homolog 1 gene DOID:3910 lung adenocarcinoma ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:15340264|PMID:17510385|PMID:18307539|PMID:19419416|PMID:22136435|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25823662|PMID:27993330|PMID:28492532 8992209 Mlh1 mutL homolog 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 8992209 Mlh1 mutL homolog 1 gene DOID:4450 renal cell carcinoma ISO RGD:733729 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16426918|REF_RGD_ID:2293509 8992209 Mlh1 mutL homolog 1 gene DOID:4606 bile duct cancer ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:15340264|PMID:17510385|PMID:18307539|PMID:19419416|PMID:22136435|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25823662|PMID:28492532 8992209 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28090092|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32710294|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 8992209 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28090092|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32710294|PMID:32832836|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 8992209 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27535758|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 8992209 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27535758|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30623411|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759 8992209 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10861474|PMID:10874307|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12362047|PMID:12377806|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17117178|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26249686|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29575718|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30521064|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527 8992209 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033 8992209 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10861474|PMID:10874307|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12362047|PMID:12377806|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17117178|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26249686|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29575718|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30521064|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33471991|PMID:35475445|PMID:7757073|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9298827|PMID:9322509 8992209 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033 8992209 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12095971|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17117178|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26249686|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29520894|PMID:29575718|PMID:29752822|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30504929|PMID:30521064|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294 8992209 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33821390|PMID:34250417|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35475445|PMID:36054288|PMID:36243179|PMID:7757073|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033 8992209 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12095971|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17117178|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:2357243|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26249686|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28591715|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29520894|PMID:29575718|PMID:29752822|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30504929|PMID:30521064|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556 8992209 Mlh1 mutL homolog 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32295079|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34250417|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35475445|PMID:36054288|PMID:36243179|PMID:7757073|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033 8992209 Mlh1 mutL homolog 1 gene DOID:630 genetic disease ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8992209 Mlh1 mutL homolog 1 gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:733729 D RGD:9068941 20210507 RGD PMID:23810210|REF_RGD_ID:126848799 8992209 Mlh1 mutL homolog 1 gene DOID:8029 sporadic breast cancer ISO RGD:733729 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, breast PMID:12173039|REF_RGD_ID:2293522 8992209 Mlh1 mutL homolog 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:733729 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:15807307|REF_RGD_ID:2293515 8992209 Mlh1 mutL homolog 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:733729 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:testis PMID:16309235|REF_RGD_ID:2293510 8992209 Mlh1 mutL homolog 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17717427 8992209 Mlh1 mutL homolog 1 gene DOID:9001030 Multiple Primary Neoplasms ISO RGD:733729 D RGD:9068941 20200609 RGD PMID:8829664|REF_RGD_ID:1625108 8992209 Mlh1 mutL homolog 1 gene DOID:9001642 Intestinal Polyps ISO RGD:733729 D RGD:9068941 20210430 RGD DNA:SNP:p.V384D (human) PMID:25561800|REF_RGD_ID:126790576 8992209 Mlh1 mutL homolog 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 8992209 Mlh1 mutL homolog 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19032668 8992209 Mlh1 mutL homolog 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:733729 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colonic Neoplasms | ClinVar Annotator: match by term: Colonic neoplasm PMID:11524701|PMID:11781295|PMID:12658575|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15955785|PMID:16395668|PMID:17054581|PMID:19248199|PMID:20305446|PMID:20937110|PMID:24344984|PMID:24710284|PMID:25107687|PMID:25133505|PMID:25741868|PMID:26467025|PMID:26666765|PMID:26895986|PMID:28492532|PMID:28874130|PMID:32658311|PMID:7728749|PMID:8574961|PMID:8797773|PMID:9490293 8992209 Mlh1 mutL homolog 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733729 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:15807307|REF_RGD_ID:2293515 8992209 Mlh1 mutL homolog 1 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:733729 D RGD:7240710 20201202 OMIM 8992209 Mlh1 mutL homolog 1 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:733729 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 PMID:08808596|PMID:10037723|PMID:10348818|PMID:10422993|PMID:10480359|PMID:10573010|PMID:10713887|PMID:10861474|PMID:10874307|PMID:10923051|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11343035|PMID:11369138|PMID:11389087|PMID:11427529|PMID:11524701|PMID:11585727|PMID:11601928|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:12067992|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12362047|PMID:12377806|PMID:12624141|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919137|PMID:14514376|PMID:14526391|PMID:14635101|PMID:14762794|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15345113|PMID:15475387|PMID:15520370|PMID:15655560|PMID:15713769|PMID:15845562|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15926618|PMID:15991306|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16528606|PMID:16724012|PMID:16769400|PMID:16807412|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17117178|PMID:17192056|PMID:17210669|PMID:17250665|PMID:17301300|PMID:17312306|PMID:17370310|PMID:17453009|PMID:17510385|PMID:17576681|PMID:17594722|PMID:17889038|PMID:17895478|PMID:18033691|PMID:18094436|PMID:18307539|PMID:18383312|PMID:18389388|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18809606|PMID:18931482|PMID:19015241|PMID:19116412|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20533529|PMID:20858721|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21247423|PMID:21387278|PMID:21404117|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21868491|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22252508|PMID:22290698|PMID:22585170|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25111426|PMID:25115387|PMID:25133505|PMID:25142776|PMID:25157968|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26580448|PMID:26637282|PMID:26681312|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27363726|PMID:27498913|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27732944|PMID:27831900|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28591715|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29212164|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29506128|PMID:29520894|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29887214|PMID:30077346|PMID:30093976|PMID:30238922|PMID:30262796|PMID:30309722|PMID:30322717|PMID:30362666|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30883245|PMID:30982232|PMID:30998989 8992209 Mlh1 mutL homolog 1 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:733729 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31207149|PMID:31248605|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31491536|PMID:31660093|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31867841|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32566746|PMID:32587781|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32980694|PMID:33191490|PMID:33281875|PMID:33471991|PMID:33821390|PMID:33980423|PMID:34250417|PMID:34347074|PMID:34408140|PMID:35223509|PMID:35263119|PMID:35449176|PMID:35467778|PMID:36054288|PMID:7757073|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8993979|PMID:9032648|PMID:9234704|PMID:9377556|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:733729 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 PMID:08808596|PMID:10037723|PMID:10348818|PMID:10422993|PMID:10480359|PMID:10573010|PMID:10713887|PMID:10861474|PMID:10874307|PMID:10923051|PMID:10995807|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11343035|PMID:11369138|PMID:11389087|PMID:11427529|PMID:11524701|PMID:11585727|PMID:11601928|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:12067992|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12362047|PMID:12377806|PMID:12519945|PMID:12624141|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919137|PMID:14514376|PMID:14526391|PMID:14635101|PMID:14762794|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15345113|PMID:15475387|PMID:15520370|PMID:15655560|PMID:15713769|PMID:15845562|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15926618|PMID:15991306|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16528606|PMID:16724012|PMID:16769400|PMID:16807412|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17117178|PMID:17192056|PMID:17210669|PMID:17250665|PMID:17301300|PMID:17312306|PMID:17370310|PMID:17453009|PMID:17510385|PMID:17576681|PMID:17594722|PMID:17889038|PMID:17895478|PMID:18033691|PMID:18094436|PMID:18307539|PMID:18383312|PMID:18389388|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18809606|PMID:18931482|PMID:19015241|PMID:19116412|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20533529|PMID:20858721|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21247423|PMID:21255554|PMID:21387278|PMID:21404117|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21868491|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22252508|PMID:22290698|PMID:22585170|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22875147|PMID:22878509|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25133505|PMID:25142776|PMID:25157968|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26580448|PMID:26637282|PMID:26681312|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27300552|PMID:27363726|PMID:27498913|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27732944|PMID:27831900|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28591715|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29212164|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29506128|PMID:29520894|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29887214|PMID:30077346|PMID:30093976|PMID:30238922|PMID:30262796|PMID:30309722 8992209 Mlh1 mutL homolog 1 gene DOID:9003892 Mismatch Repair Cancer Syndrome 1 ISO RGD:733729 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 PMID:30322717|PMID:30362666|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31207149|PMID:31248605|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31491536|PMID:31660093|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31867841|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32566746|PMID:32587781|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32980694|PMID:33191490|PMID:33281875|PMID:33471991|PMID:33821390|PMID:33980423|PMID:34172528|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34408140|PMID:35223509|PMID:35263119|PMID:35449176|PMID:35467778|PMID:36054288|PMID:36243179|PMID:36627197|PMID:37270516|PMID:37433431|PMID:7757073|PMID:8808596|PMID:8809606|PMID:8872463|PMID:8880570|PMID:8993979|PMID:9032648|PMID:9234704|PMID:9377556|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:9005147 Hydatidiform Mole ISO RGD:733729 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell PMID:15338238|REF_RGD_ID:2293517 8992209 Mlh1 mutL homolog 1 gene DOID:9005804 Vulvar Neoplasms ISO RGD:733729 D RGD:9068941 20200609 RGD protein:increased expression:vulva PMID:15870899|REF_RGD_ID:2293514 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10734316|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11292842|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14985405|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28724667|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32849802|PMID:32914570|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28640387|PMID:28687356|PMID:28724667|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:34504932|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34172528|PMID:34359559|PMID:34404389|PMID:34504932|PMID:35263119|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279230|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35467778|PMID:36073783|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35014770|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36988593|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12519945|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018 8992209 Mlh1 mutL homolog 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733729 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33253688|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36454741|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37433431|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034 8992209 Mlh1 mutL homolog 1 gene DOID:9008086 Developmental Disabilities ISO RGD:733729 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:11948175|PMID:15475387|PMID:16736289|PMID:17135187|PMID:17210669|PMID:17510385|PMID:21404117|PMID:22843852|PMID:23741719|PMID:25085752|PMID:25741868|PMID:26467025|PMID:26552419|PMID:28492532|PMID:28514183|PMID:28767289|PMID:30504929|PMID:31332305|PMID:32719484|PMID:33471991|PMID:36054288|PMID:9311737 8992209 Mlh1 mutL homolog 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733729 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497967|PMID:18718023|PMID:18949393 8992209 Mlh1 mutL homolog 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 8992209 Mlh1 mutL homolog 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:733729 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:15300854|PMID:17576681|PMID:21404117|PMID:25741868|PMID:26467025|PMID:27064304|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28514183|PMID:29922827|PMID:30720243|PMID:33471991|PMID:33558524|PMID:9536098 8992209 Mlh1 mutL homolog 1 gene DOID:9256 colorectal cancer ISO RGD:733729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11726306|PMID:12919137|PMID:15849733|PMID:17895478|PMID:18931482|PMID:20587412|PMID:22878509|PMID:24033266|PMID:25741868|PMID:25980754|PMID:26888055|PMID:28492532|PMID:29472279|PMID:29684080|PMID:31843900 8992209 Mlh1 mutL homolog 1 gene DOID:9256 colorectal cancer ISO RGD:733729 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11726306|PMID:12919137|PMID:15849733|PMID:17895478|PMID:18931482|PMID:20587412|PMID:22878509|PMID:24033266|PMID:25741868|PMID:25980754|PMID:26888055|PMID:28492532|PMID:29472279|PMID:31843900 8992271 Sumf2 sulfatase modifying factor 2 gene DOID:0050441 mucosulfatidosis ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sulfatase deficiency PMID:12757706 8992271 Sumf2 sulfatase modifying factor 2 gene DOID:0050724 PSPH deficiency ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 8992271 Sumf2 sulfatase modifying factor 2 gene DOID:12849 autistic disorder ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8992271 Sumf2 sulfatase modifying factor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8992271 Sumf2 sulfatase modifying factor 2 gene DOID:630 genetic disease ISO RGD:1349479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992289 Slc6a15 solute carrier family 6 member 15 gene DOID:630 genetic disease ISO RGD:735866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992323 CUNH1orf167 chromosome unknown C1orf167 homolog gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604177 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8992323 CUNH1orf167 chromosome unknown C1orf167 homolog gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604177 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8992323 CUNH1orf167 chromosome unknown C1orf167 homolog gene DOID:3393 coronary artery disease ISO RGD:1604177 D RGD:9068941 20200609 RGD DNA:SNP: :rs56001051(human) PMID:31175347|REF_RGD_ID:14696712 8992323 CUNH1orf167 chromosome unknown C1orf167 homolog gene DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency ISO RGD:1604177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25741868 8992323 CUNH1orf167 chromosome unknown C1orf167 homolog gene DOID:9001989 Folate-Sensitive Neural Tube Defects ISO RGD:1604177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive 8992323 CUNH1orf167 chromosome unknown C1orf167 homolog gene DOID:9007096 Stroke ISO RGD:1604177 D RGD:9068941 20200609 RGD DNA:SNP: :rs56001051(human) PMID:31175347|REF_RGD_ID:14696712 8992323 CUNH1orf167 chromosome unknown C1orf167 homolog gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1604177 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8992363 Vipr2 vasoactive intestinal peptide receptor 2 gene DOID:0060180 colitis ISO RGD:737317 D RGD:9068941 20200609 RGD PMID:21295288|REF_RGD_ID:5685384 8992363 Vipr2 vasoactive intestinal peptide receptor 2 gene DOID:12849 autistic disorder ISO RGD:1351062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8992363 Vipr2 vasoactive intestinal peptide receptor 2 gene DOID:2661 myoepithelioma ISO RGD:1351062 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8992363 Vipr2 vasoactive intestinal peptide receptor 2 gene DOID:5419 schizophrenia ISO RGD:1351062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8992363 Vipr2 vasoactive intestinal peptide receptor 2 gene DOID:630 genetic disease ISO RGD:1351062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992388 Atxn7l3b ataxin 7 like 3B gene DOID:630 genetic disease ISO RGD:2816966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992393 Creb3 cAMP responsive element binding protein 3 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1318829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8992393 Creb3 cAMP responsive element binding protein 3 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8992393 Creb3 cAMP responsive element binding protein 3 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1318829 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8992393 Creb3 cAMP responsive element binding protein 3 gene DOID:0080942 anauxetic dysplasia ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8992393 Creb3 cAMP responsive element binding protein 3 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8992393 Creb3 cAMP responsive element binding protein 3 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8992393 Creb3 cAMP responsive element binding protein 3 gene DOID:3007 breast ductal carcinoma ISO RGD:1318829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8992393 Creb3 cAMP responsive element binding protein 3 gene DOID:630 genetic disease ISO RGD:1318829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992393 Creb3 cAMP responsive element binding protein 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1318829 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8992393 Creb3 cAMP responsive element binding protein 3 gene DOID:9870 galactosemia ISO RGD:1318829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8992407 Gjb6 gap junction protein beta 6 gene DOID:0050563 nonsyndromic deafness ISO RGD:1349249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11807148|PMID:12917317|PMID:14571368|PMID:14681039|PMID:15994881|PMID:19047647|PMID:22098503|PMID:23303923|PMID:24158611|PMID:25741868|PMID:28823936|PMID:30311386 8992407 Gjb6 gap junction protein beta 6 gene DOID:0110253 cataract 14 multiple types ISO RGD:1349249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 8992407 Gjb6 gap junction protein beta 6 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1349249 D RGD:7240710 20180130 OMIM 8992407 Gjb6 gap junction protein beta 6 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:1349249 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:10610709|PMID:10730756|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12172394|PMID:12419304|PMID:12788524|PMID:12885339|PMID:14571368|PMID:14708603|PMID:15213106|PMID:15638823|PMID:15769851|PMID:15994881|PMID:16547895|PMID:16950989|PMID:17041943|PMID:17160938|PMID:17259707|PMID:17666888|PMID:18324688|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24052723|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27068579|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29739340|PMID:29771057|PMID:30620052|PMID:31015822|PMID:31589614|PMID:35062939 8992407 Gjb6 gap junction protein beta 6 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1349249 D RGD:7240710 20180130 OMIM 8992407 Gjb6 gap junction protein beta 6 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:1349249 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:10610709|PMID:10730756|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12172394|PMID:12419304|PMID:12788524|PMID:12885339|PMID:14571368|PMID:14708603|PMID:15213106|PMID:15638823|PMID:15769851|PMID:15994881|PMID:16547895|PMID:16950989|PMID:17041943|PMID:17160938|PMID:17259707|PMID:17666888|PMID:18324688|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24052723|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27068579|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29739340|PMID:29771057|PMID:30620052|PMID:31015822|PMID:31589614|PMID:35062939 8992407 Gjb6 gap junction protein beta 6 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1349249 D RGD:7240710 20180130 OMIM 8992407 Gjb6 gap junction protein beta 6 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:1349249 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:10471490|PMID:10610709|PMID:10730756|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17160938|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:20858605|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24052723|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27068579|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29739340|PMID:29771057|PMID:30620052|PMID:31015822|PMID:31589614|PMID:35062939 8992407 Gjb6 gap junction protein beta 6 gene DOID:0111737 X-linked deafness 2 ISO RGD:1349249 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:10730756|PMID:11017065|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:17160938|PMID:20536673|PMID:22106692|PMID:23219093|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24052723|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25741868|PMID:26551294|PMID:27068579|PMID:27137747|PMID:27817781|PMID:28492532|PMID:30620052|PMID:31015822 8992407 Gjb6 gap junction protein beta 6 gene DOID:11832 visual epilepsy ISO RGD:621830 D RGD:9068941 20200609 RGD PMID:23149765|REF_RGD_ID:7364770 8992407 Gjb6 gap junction protein beta 6 gene DOID:14693 Clouston syndrome ISO RGD:1349249 D RGD:7240710 20191127 OMIM 8992407 Gjb6 gap junction protein beta 6 gene DOID:14693 Clouston syndrome ISO RGD:1349249 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome PMID:10610709|PMID:10730756|PMID:11017065|PMID:11807148|PMID:11874494|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17160938|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24052723|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27068579|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29739340|PMID:29771057|PMID:30620052|PMID:31015822|PMID:31589614|PMID:35062939 8992407 Gjb6 gap junction protein beta 6 gene DOID:1824 status epilepticus ISO RGD:621830 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:12359154|REF_RGD_ID:632751 8992407 Gjb6 gap junction protein beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:15213106|PMID:15769851|PMID:16950989|PMID:17259707|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27817781|PMID:28492532 8992407 Gjb6 gap junction protein beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:15213106|PMID:15769851|PMID:16950989|PMID:17259707|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27817781|PMID:28492532|PMID:31589614 8992407 Gjb6 gap junction protein beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:10610709|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29771057|PMID:31589614 8992407 Gjb6 gap junction protein beta 6 gene DOID:2121 ectodermal dysplasia ISO RGD:1349249 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:10610709|PMID:10730756|PMID:11017065|PMID:11807148|PMID:11896458|PMID:12419304|PMID:12788524|PMID:14708603|PMID:15213106|PMID:15769851|PMID:16547895|PMID:16950989|PMID:17160938|PMID:17259707|PMID:17666888|PMID:19723508|PMID:20536673|PMID:21731760|PMID:22106692|PMID:22617145|PMID:23219093|PMID:23757202|PMID:23863883|PMID:23926005|PMID:23981984|PMID:24033266|PMID:24052723|PMID:24514865|PMID:24522190|PMID:24685692|PMID:25214170|PMID:25262649|PMID:25741868|PMID:26551294|PMID:27068579|PMID:27137747|PMID:27480936|PMID:27817781|PMID:28492532|PMID:29739340|PMID:29771057|PMID:30620052|PMID:31015822|PMID:31589614|PMID:35062939 8992407 Gjb6 gap junction protein beta 6 gene DOID:224 transient cerebral ischemia ISO RGD:621830 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:21718970|REF_RGD_ID:6480433 8992407 Gjb6 gap junction protein beta 6 gene DOID:5154 borna disease ISO RGD:621830 D RGD:9068941 20200609 RGD PMID:18538309|REF_RGD_ID:7364785 8992407 Gjb6 gap junction protein beta 6 gene DOID:5199 ureteral obstruction ISO RGD:621830 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:12644912|REF_RGD_ID:7207847 8992407 Gjb6 gap junction protein beta 6 gene DOID:630 genetic disease ISO RGD:1349249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18717672|PMID:28492532 8992407 Gjb6 gap junction protein beta 6 gene DOID:9004538 Hearing Loss ISO RGD:1349249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 8992407 Gjb6 gap junction protein beta 6 gene DOID:9004756 Brain Hypoxia ISO RGD:621830 D RGD:9068941 20200609 RGD PMID:20034754|REF_RGD_ID:7364784 8992407 Gjb6 gap junction protein beta 6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621830 D RGD:9068941 20200609 RGD PMID:21567444|REF_RGD_ID:7364783 8992407 Gjb6 gap junction protein beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349249 D RGD:9068941 20200609 RGD DNA:del::GJB6-D13S1854(human) PMID:23668481|REF_RGD_ID:7364817 8992407 Gjb6 gap junction protein beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349249 D RGD:9068941 20200609 RGD DNA:del:cds:del(GJB6-D13S1830) PMID:20022641|REF_RGD_ID:7364812 8992407 Gjb6 gap junction protein beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1349249 D RGD:9068941 20200609 RGD DNA:mutations:multiple: PMID:23554706|REF_RGD_ID:7364803 8992407 Gjb6 gap junction protein beta 6 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss no_association ISO RGD:1349249 D RGD:9068941 20200609 RGD PMID:21227513|PMID:22186156|REF_RGD_ID:7364891|REF_RGD_ID:7364892 8992421 Asb2 ankyrin repeat and SOCS box containing 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 8992421 Asb2 ankyrin repeat and SOCS box containing 2 gene DOID:0081063 DICER1 syndrome ISO RGD:1315012 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 8992421 Asb2 ankyrin repeat and SOCS box containing 2 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1315012 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 8992421 Asb2 ankyrin repeat and SOCS box containing 2 gene DOID:630 genetic disease ISO RGD:1315012 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992449 Vti1b vesicle transport through interaction with t-SNAREs 1B gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1352901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 8992449 Vti1b vesicle transport through interaction with t-SNAREs 1B gene DOID:630 genetic disease ISO RGD:1352901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992464 Get4 guided entry of tail-anchored proteins factor 4 gene DOID:630 genetic disease ISO RGD:1323234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992464 Get4 guided entry of tail-anchored proteins factor 4 gene DOID:9007056 Congenital Disorder of Glycosylation Type IIy ISO RGD:1323234 D RGD:7240710 20230125 OMIM 8992464 Get4 guided entry of tail-anchored proteins factor 4 gene DOID:9007056 Congenital Disorder of Glycosylation Type IIy ISO RGD:1323234 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDG IIy PMID:25741868|PMID:32395830 8992477 Usp20 ubiquitin specific peptidase 20 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313758 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8992477 Usp20 ubiquitin specific peptidase 20 gene DOID:630 genetic disease ISO RGD:1313758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992513 Odr4 odr-4 GPCR localization factor homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1346906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8992513 Odr4 odr-4 GPCR localization factor homolog gene DOID:630 genetic disease ISO RGD:1346906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992513 Odr4 odr-4 GPCR localization factor homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8992532 Lrig3 leucine rich repeats and immunoglobulin like domains 3 gene DOID:630 genetic disease ISO RGD:1347856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992554 Mdh1 malate dehydrogenase 1 gene DOID:0112222 developmental and epileptic encephalopathy 88 ISO RGD:732327 D RGD:7240710 20200812 OMIM 8992554 Mdh1 malate dehydrogenase 1 gene DOID:0112222 developmental and epileptic encephalopathy 88 ISO RGD:732327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 PMID:31538237 8992554 Mdh1 malate dehydrogenase 1 gene DOID:10763 hypertension ISO RGD:732327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 8992554 Mdh1 malate dehydrogenase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8992554 Mdh1 malate dehydrogenase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732327 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8992554 Mdh1 malate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:732327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992554 Mdh1 malate dehydrogenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8992554 Mdh1 malate dehydrogenase 1 gene DOID:9004590 Acute Liver Failure ISO RGD:732327 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 8992554 Mdh1 malate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8992554 Mdh1 malate dehydrogenase 1 gene DOID:9008691 Liver Injury treatment ISO RGD:3072 D RGD:9068941 20200609 RGD PMID:24919044|REF_RGD_ID:13703104 8992567 Mrpl19 mitochondrial ribosomal protein L19 gene DOID:630 genetic disease ISO RGD:1349255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992567 Mrpl19 mitochondrial ribosomal protein L19 gene DOID:9008939 Breast Neoplasms ISO RGD:1349255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 8992577 Pex2 peroxisomal biogenesis factor 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1349650 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE PMID:10528859|PMID:10652207|PMID:10960480|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 8992577 Pex2 peroxisomal biogenesis factor 2 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1349650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10528859|PMID:1546315 8992577 Pex2 peroxisomal biogenesis factor 2 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1349650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 8992577 Pex2 peroxisomal biogenesis factor 2 gene DOID:0080480 peroxisome biogenesis disorder 5A ISO RGD:1349650 D RGD:7240710 20180130 OMIM 8992577 Pex2 peroxisomal biogenesis factor 2 gene DOID:0080480 peroxisome biogenesis disorder 5A ISO RGD:1349650 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5A (Zellweger) PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:32860008|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 8992577 Pex2 peroxisomal biogenesis factor 2 gene DOID:630 genetic disease ISO RGD:1349650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8992577 Pex2 peroxisomal biogenesis factor 2 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1349650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 8992577 Pex2 peroxisomal biogenesis factor 2 gene DOID:9008800 Peroxisome Biogenesis Disorder 5B ISO RGD:1349650 D RGD:7240710 20180130 OMIM 8992577 Pex2 peroxisomal biogenesis factor 2 gene DOID:9008800 Peroxisome Biogenesis Disorder 5B ISO RGD:1349650 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5B PMID:10528859|PMID:10652207|PMID:10960480|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21392394|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:7931872|PMID:9452066|PMID:9585609 8992577 Pex2 peroxisomal biogenesis factor 2 gene DOID:905 Zellweger syndrome ISO RGD:1349650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10528859|PMID:10652207|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 8992577 Pex2 peroxisomal biogenesis factor 2 gene DOID:905 Zellweger syndrome ISO RGD:1349650 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10528859|PMID:10652207|PMID:10960480|PMID:14630978|PMID:1546315|PMID:15542397|PMID:17041890|PMID:21031596|PMID:21465523|PMID:23430938|PMID:23590336|PMID:23829372|PMID:25333069|PMID:25741868|PMID:28089346|PMID:28492532|PMID:7541833|PMID:7681622|PMID:9452066|PMID:9585609 8992604 Svbp small vasohibin binding protein gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8992604 Svbp small vasohibin binding protein gene DOID:10907 microcephaly ISO RGD:1605525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30607023|PMID:31363758 8992604 Svbp small vasohibin binding protein gene DOID:630 genetic disease ISO RGD:1605525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992604 Svbp small vasohibin binding protein gene DOID:9008370 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY ISO RGD:1605525 D RGD:7240710 20230104 OMIM 8992604 Svbp small vasohibin binding protein gene DOID:9008370 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY ISO RGD:1605525 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly PMID:25741868|PMID:30607023|PMID:31363758 8992611 Vwa5b1 von Willebrand factor A domain containing 5B1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 8992611 Vwa5b1 von Willebrand factor A domain containing 5B1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606163 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 8992611 Vwa5b1 von Willebrand factor A domain containing 5B1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 8992611 Vwa5b1 von Willebrand factor A domain containing 5B1 gene DOID:630 genetic disease ISO RGD:1606163 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992611 Vwa5b1 von Willebrand factor A domain containing 5B1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606163 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 8992646 Tmt1b thiol methyltransferase 1B gene DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency ISO RGD:1603260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:28492532 8992646 Tmt1b thiol methyltransferase 1B gene DOID:4001 ovarian carcinoma ISO RGD:1603260 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 8992646 Tmt1b thiol methyltransferase 1B gene DOID:630 genetic disease ISO RGD:1603260 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992652 Gpr143 G protein-coupled receptor 143 gene DOID:0050633 ocular albinism 1 ISO RGD:1353035 D RGD:7240710 20180130 OMIM 8992652 Gpr143 G protein-coupled receptor 143 gene DOID:0050633 ocular albinism 1 ISO RGD:1353035 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I PMID:11214907|PMID:11520764|PMID:1427786|PMID:15965158|PMID:16199547|PMID:1652548|PMID:16646960|PMID:17576681|PMID:17960122|PMID:18523664|PMID:18978956|PMID:19390656|PMID:19610097|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532|PMID:5125647|PMID:7647783|PMID:8400292|PMID:8634705|PMID:9529334|PMID:9536098|PMID:9887374 8992652 Gpr143 G protein-coupled receptor 143 gene DOID:0111795 congenital nystagmus 6 ISO RGD:1353035 D RGD:7240710 20180130 OMIM 8992652 Gpr143 G protein-coupled receptor 143 gene DOID:0111795 congenital nystagmus 6 ISO RGD:1353035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked PMID:15965158|PMID:17516023|PMID:18523664|PMID:18978956|PMID:19390656|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532 8992652 Gpr143 G protein-coupled receptor 143 gene DOID:12849 autistic disorder ISO RGD:1353035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8992652 Gpr143 G protein-coupled receptor 143 gene DOID:630 genetic disease ISO RGD:1353035 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11115845|PMID:11214907|PMID:16704458|PMID:21541274|PMID:21739261|PMID:25741868|PMID:27734839|PMID:28492532|PMID:28559085|PMID:29345414|PMID:34251969|PMID:7647783 8992652 Gpr143 G protein-coupled receptor 143 gene DOID:9001386 Albinism ISO RGD:1353035 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Albinism PMID:11115845|PMID:11214907|PMID:26785811|PMID:28041643|PMID:28492532|PMID:32581362|PMID:8634705 8992652 Gpr143 G protein-coupled receptor 143 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353035 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8992652 Gpr143 G protein-coupled receptor 143 gene DOID:9650 pathologic nystagmus ISO RGD:1353035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:15965158|PMID:18978956|PMID:19390656|PMID:21541274|PMID:25741868|PMID:26160353|PMID:28211458|PMID:28492532 8992676 Crhbp corticotropin releasing hormone binding protein gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:730851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 8992676 Crhbp corticotropin releasing hormone binding protein gene DOID:1596 depressive disorder ISO RGD:2403 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, frontal cortex (rat) PMID:19631474|REF_RGD_ID:5508785 8992676 Crhbp corticotropin releasing hormone binding protein gene DOID:1596 depressive disorder ISO RGD:730851 D RGD:9068941 20200609 RGD DNA:snps:intron, 3' utr:g.10661T>C, g.16113T>C (human) PMID:14573312|REF_RGD_ID:1358530 8992676 Crhbp corticotropin releasing hormone binding protein gene DOID:3328 temporal lobe epilepsy ISO RGD:2403 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:9037416|REF_RGD_ID:5508845 8992676 Crhbp corticotropin releasing hormone binding protein gene DOID:630 genetic disease ISO RGD:730851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992676 Crhbp corticotropin releasing hormone binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:730851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8992676 Crhbp corticotropin releasing hormone binding protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8992676 Crhbp corticotropin releasing hormone binding protein gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17437087 8992676 Crhbp corticotropin releasing hormone binding protein gene DOID:9970 obesity ISO RGD:2403 D RGD:9068941 20200609 RGD mRNA:decreased expression:anterior pituitary gland (rat) PMID:10600923|REF_RGD_ID:5508840 8992688 Tspan3 tetraspanin 3 gene DOID:2717 Bloom syndrome ISO RGD:1602131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8992688 Tspan3 tetraspanin 3 gene DOID:5419 schizophrenia ISO RGD:1602131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8992688 Tspan3 tetraspanin 3 gene DOID:630 genetic disease ISO RGD:1602131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992688 Tspan3 tetraspanin 3 gene DOID:9256 colorectal cancer ISO RGD:1602131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8992702 Erlin1 ER lipid raft associated 1 gene DOID:0080600 COVID-19 ISO RGD:1344396 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8992702 Erlin1 ER lipid raft associated 1 gene DOID:0110813 hereditary spastic paraplegia 62 ISO RGD:1344396 D RGD:7240710 20190315 OMIM 8992702 Erlin1 ER lipid raft associated 1 gene DOID:0110813 hereditary spastic paraplegia 62 ISO RGD:1344396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 62 PMID:16199547|PMID:17576681|PMID:24482476|PMID:25741868|PMID:28492532|PMID:9536098 8992702 Erlin1 ER lipid raft associated 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1344396 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8992702 Erlin1 ER lipid raft associated 1 gene DOID:630 genetic disease ISO RGD:1344396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8992702 Erlin1 ER lipid raft associated 1 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1344396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868 8992721 Edc4 enhancer of mRNA decapping 4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1606564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 8992721 Edc4 enhancer of mRNA decapping 4 gene DOID:630 genetic disease ISO RGD:1606564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992758 Elfn1 extracellular leucine rich repeat and fibronectin type III domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1642766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity PMID:24312227|PMID:34509675 8992758 Elfn1 extracellular leucine rich repeat and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1642766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992767 Eml4 EMAP like 4 gene DOID:3883 Lynch syndrome ISO RGD:1351948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 8992767 Eml4 EMAP like 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1351948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625570|PMID:21757253|PMID:21767331|PMID:22568572|PMID:22617245|PMID:22986231 8992767 Eml4 EMAP like 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1351948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22980554|PMID:22999080 8992767 Eml4 EMAP like 4 gene DOID:630 genetic disease ISO RGD:1351948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992767 Eml4 EMAP like 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1351948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22986231|PMID:22999080 8992767 Eml4 EMAP like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8992767 Eml4 EMAP like 4 gene DOID:9007502 Brain Neoplasms ISO RGD:1351948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22986231 8992809 Arid4b AT-rich interaction domain 4B gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1604359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 8992809 Arid4b AT-rich interaction domain 4B gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1604359 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 8992809 Arid4b AT-rich interaction domain 4B gene DOID:1540 parathyroid carcinoma ISO RGD:1604359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8992809 Arid4b AT-rich interaction domain 4B gene DOID:630 genetic disease ISO RGD:1604359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992809 Arid4b AT-rich interaction domain 4B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8992853 Arpp21 cAMP regulated phosphoprotein 21 gene DOID:10283 prostate cancer ISO RGD:1606317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8992853 Arpp21 cAMP regulated phosphoprotein 21 gene DOID:630 genetic disease ISO RGD:1606317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992853 Arpp21 cAMP regulated phosphoprotein 21 gene DOID:9007330 Monomelic Amyotrophy ISO RGD:1606317 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Monomelic amyotrophy 8992920 Nfe2l3 NFE2 like bZIP transcription factor 3 gene DOID:10126 keratoconus ISO RGD:1317092 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Keratoconus 8992920 Nfe2l3 NFE2 like bZIP transcription factor 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317092 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8992920 Nfe2l3 NFE2 like bZIP transcription factor 3 gene DOID:630 genetic disease ISO RGD:1317092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992928 Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 gene DOID:2717 Bloom syndrome ISO RGD:1602696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8992928 Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 gene DOID:630 genetic disease ISO RGD:1602696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8992928 Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 gene DOID:9256 colorectal cancer ISO RGD:1602696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8992947 Tmem131 transmembrane protein 131 gene DOID:630 genetic disease ISO RGD:1606821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8992992 Cys1 cystin 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1606435 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:34521872 8992992 Cys1 cystin 1 gene DOID:10534 stomach cancer severity ISO RGD:1606435 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 8992992 Cys1 cystin 1 gene DOID:630 genetic disease ISO RGD:1606435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993004 Irf1 interferon regulatory factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735989 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8993004 Irf1 interferon regulatory factor 1 gene DOID:10534 stomach cancer ISO RGD:735989 D RGD:7240710 20220209 OMIM 8993004 Irf1 interferon regulatory factor 1 gene DOID:10534 stomach cancer ISO RGD:735989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:9679752 8993004 Irf1 interferon regulatory factor 1 gene DOID:11204 allergic conjunctivitis ISO RGD:2920 D RGD:9068941 20200609 RGD PMID:14605445|REF_RGD_ID:5128787 8993004 Irf1 interferon regulatory factor 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:2920 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion PMID:20045913|REF_RGD_ID:5128775 8993004 Irf1 interferon regulatory factor 1 gene DOID:1324 lung cancer ISO RGD:735989 D RGD:7240710 20240124 OMIM 8993004 Irf1 interferon regulatory factor 1 gene DOID:1485 cystic fibrosis ISO RGD:10815 D RGD:9068941 20200609 RGD protein:decreased expression:intestine epithelium, nasal cavity epithelium PMID:10930443|REF_RGD_ID:5128720 8993004 Irf1 interferon regulatory factor 1 gene DOID:2043 hepatitis B disease_progression ISO RGD:10815 D RGD:9068941 20201218 RGD PMID:11861827|REF_RGD_ID:40902828 8993004 Irf1 interferon regulatory factor 1 gene DOID:2841 asthma ISO RGD:735989 D RGD:9068941 20200609 RGD protein:increased expression:respiratory tract epithelium PMID:10225979|REF_RGD_ID:5128723 8993004 Irf1 interferon regulatory factor 1 gene DOID:2841 asthma no_association ISO RGD:735989 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) PMID:11069564|REF_RGD_ID:5128726 8993004 Irf1 interferon regulatory factor 1 gene DOID:2841 asthma susceptibility ISO RGD:735989 D RGD:9068941 20200609 RGD DNA:repeat:intron (human) PMID:16961714|REF_RGD_ID:5128724 8993004 Irf1 interferon regulatory factor 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:2920 D RGD:9068941 20200609 RGD DNA:deletions (rat) PMID:19075038|REF_RGD_ID:5128782 8993004 Irf1 interferon regulatory factor 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:10815 D RGD:9068941 20200609 RGD PMID:11083808|REF_RGD_ID:5128719 8993004 Irf1 interferon regulatory factor 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:735989 D RGD:9068941 20200609 RGD PMID:9679752|REF_RGD_ID:1600013 8993004 Irf1 interferon regulatory factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:735989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:10395927 8993004 Irf1 interferon regulatory factor 1 gene DOID:5199 ureteral obstruction ISO RGD:2920 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12787392|REF_RGD_ID:2317694 8993004 Irf1 interferon regulatory factor 1 gene DOID:630 genetic disease ISO RGD:735989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993004 Irf1 interferon regulatory factor 1 gene DOID:850 lung disease ISO RGD:2920 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:11880315|REF_RGD_ID:5128716 8993004 Irf1 interferon regulatory factor 1 gene DOID:8736 smallpox treatment ISO RGD:735989 D RGD:9068941 20210305 RGD DNA:SNPs,haplotype: :rs839, rs9282763(human) PMID:18454680|REF_RGD_ID:42722608 8993004 Irf1 interferon regulatory factor 1 gene DOID:874 bacterial pneumonia ISO RGD:10815 D RGD:9068941 20200609 RGD PMID:11854220|REF_RGD_ID:5128725 8993004 Irf1 interferon regulatory factor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2920 D RGD:9068941 20200609 RGD PMID:11723173|REF_RGD_ID:2298928 8993004 Irf1 interferon regulatory factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735989 D RGD:9068941 20220217 CTD CTD Direct Evidence: marker/mechanism 8993004 Irf1 interferon regulatory factor 1 gene DOID:9000998 Brain Injuries ISO RGD:2920 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12503083|REF_RGD_ID:2317873 8993004 Irf1 interferon regulatory factor 1 gene DOID:9000998 Brain Injuries ISO RGD:735989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8993004 Irf1 interferon regulatory factor 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2920 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12437578|REF_RGD_ID:632385 8993004 Irf1 interferon regulatory factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8993004 Irf1 interferon regulatory factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735989 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism 8993004 Irf1 interferon regulatory factor 1 gene DOID:9005297 Immunodeficiency 117 ISO RGD:735989 D RGD:7240710 20240124 OMIM 8993004 Irf1 interferon regulatory factor 1 gene DOID:9005297 Immunodeficiency 117 ISO RGD:735989 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Immunodeficiency 117 8993004 Irf1 interferon regulatory factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735989 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8993004 Irf1 interferon regulatory factor 1 gene DOID:9007096 Stroke ISO RGD:735989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 8993004 Irf1 interferon regulatory factor 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:735989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8993004 Irf1 interferon regulatory factor 1 gene DOID:9008680 Respiratory Tract Infections ISO RGD:10815 D RGD:9068941 20200609 RGD PMID:10497103|REF_RGD_ID:5128721 8993017 Pmch pro-melanin concentrating hormone gene DOID:630 genetic disease ISO RGD:731886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993017 Pmch pro-melanin concentrating hormone gene DOID:9007692 Insulin Resistance ISO RGD:3358 D RGD:9068941 20200609 RGD PMID:16002548|REF_RGD_ID:1642484 8993017 Pmch pro-melanin concentrating hormone gene DOID:9970 obesity ISO RGD:1553120 D RGD:9068941 20200609 RGD associated with Hyperphagia PMID:12453827|REF_RGD_ID:1642486 8993017 Pmch pro-melanin concentrating hormone gene DOID:9970 obesity ISO RGD:3358 D RGD:9068941 20200609 RGD associated with Hyperphagia;protein:increased expression:hypothalamus PMID:15363890|REF_RGD_ID:1624360 8993017 Pmch pro-melanin concentrating hormone gene DOID:9970 obesity ISO RGD:731886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12355323 8993024 Cmpk1 cytidine/uridine monophosphate kinase 1 gene DOID:11367 congenital aphakia ISO RGD:1604360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:28492532 8993024 Cmpk1 cytidine/uridine monophosphate kinase 1 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1604360 D RGD:9068941 20200609 RGD DNA:snps:intron:IVS1+1057C>A rs4492666, IVS1-928C>A rs11211524 (human) PMID:21642870|REF_RGD_ID:5133252 8993024 Cmpk1 cytidine/uridine monophosphate kinase 1 gene DOID:630 genetic disease ISO RGD:1604360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993034 Bves blood vessel epicardial substance gene DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X ISO RGD:1344210 D RGD:7240710 20190315 OMIM 8993034 Bves blood vessel epicardial substance gene DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X ISO RGD:1344210 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2X PMID:25741868|PMID:26642364|PMID:28492532|PMID:31119192|PMID:35660068 8993034 Bves blood vessel epicardial substance gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1344210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:25741868|PMID:31119192 8993034 Bves blood vessel epicardial substance gene DOID:630 genetic disease ISO RGD:1344210 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8993048 Kansl1l KAT8 regulatory NSL complex subunit 1 like gene DOID:14557 primary pulmonary hypertension ISO RGD:1606446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 8993048 Kansl1l KAT8 regulatory NSL complex subunit 1 like gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1606446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8993048 Kansl1l KAT8 regulatory NSL complex subunit 1 like gene DOID:630 genetic disease ISO RGD:1606446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993048 Kansl1l KAT8 regulatory NSL complex subunit 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606446 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8993067 Slc28a3 solute carrier family 28 member 3 gene DOID:630 genetic disease ISO RGD:731872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993067 Slc28a3 solute carrier family 28 member 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621224 D RGD:9068941 20200609 RGD PMID:16014043|REF_RGD_ID:2317455 8993093 Itga10 integrin subunit alpha 10 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1313014 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 8993093 Itga10 integrin subunit alpha 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1313014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8993093 Itga10 integrin subunit alpha 10 gene DOID:2256 osteochondrodysplasia ISO RGD:12262494 D RGD:9068941 20230824 OMIA Chondrodysplasia, disproportionate short-limbed PMID:24086591|PMID:37582787|PMID:7081383 8993093 Itga10 integrin subunit alpha 10 gene DOID:5419 schizophrenia ISO RGD:1313014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8993093 Itga10 integrin subunit alpha 10 gene DOID:630 genetic disease ISO RGD:1313014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993093 Itga10 integrin subunit alpha 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8993131 Tmem8b transmembrane protein 8B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1320668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 8993131 Tmem8b transmembrane protein 8B gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1320668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 8993131 Tmem8b transmembrane protein 8B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1320668 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 8993131 Tmem8b transmembrane protein 8B gene DOID:0080942 anauxetic dysplasia ISO RGD:1320668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 8993131 Tmem8b transmembrane protein 8B gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1320668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 8993131 Tmem8b transmembrane protein 8B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1320668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 8993131 Tmem8b transmembrane protein 8B gene DOID:630 genetic disease ISO RGD:1320668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993131 Tmem8b transmembrane protein 8B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320668 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8993131 Tmem8b transmembrane protein 8B gene DOID:9870 galactosemia ISO RGD:1320668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 8993167 Nbea neurobeachin gene DOID:0060041 autism spectrum disorder ISO RGD:1323716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8993167 Nbea neurobeachin gene DOID:10534 stomach cancer severity ISO RGD:1323716 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 8993167 Nbea neurobeachin gene DOID:1059 intellectual disability ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8993167 Nbea neurobeachin gene DOID:12849 autistic disorder ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 8993167 Nbea neurobeachin gene DOID:1826 epilepsy ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868 8993167 Nbea neurobeachin gene DOID:2213 hemorrhagic disease ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 8993167 Nbea neurobeachin gene DOID:630 genetic disease ISO RGD:1323716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8993167 Nbea neurobeachin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8993167 Nbea neurobeachin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8993167 Nbea neurobeachin gene DOID:9004635 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY ISO RGD:1323716 D RGD:7240710 20210217 OMIM 8993167 Nbea neurobeachin gene DOID:9004635 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY ISO RGD:1323716 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NBEA-related complex neurodevelopmental disorder | ClinVar Annotator: match by term: NBEA-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without early-onset generalized epilepsy PMID:25741868|PMID:28492532|PMID:30269351|PMID:34412939 8993167 Nbea neurobeachin gene DOID:9008086 Developmental Disabilities ISO RGD:1323716 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 8993167 Nbea neurobeachin gene DOID:9008126 Cerebellar, Ocular, Craniofacial, and Genital Syndrome ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar, ocular, craniofacial, and genital syndrome PMID:23374822|PMID:27075597|PMID:27103078|PMID:30487245 8993167 Nbea neurobeachin gene DOID:9008582 Developmental Disease ISO RGD:1323716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8993256 Kpna7 karyopherin subunit alpha 7 gene DOID:1059 intellectual disability ISO RGD:2306472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild PMID:24088041|PMID:26633545|PMID:28492532 8993256 Kpna7 karyopherin subunit alpha 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2306472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8993256 Kpna7 karyopherin subunit alpha 7 gene DOID:630 genetic disease ISO RGD:2306472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8993256 Kpna7 karyopherin subunit alpha 7 gene DOID:9005201 Oocyte/Zygote/Embryo Maturation Arrest 17 ISO RGD:2306472 D RGD:7240710 20230505 OMIM 8993256 Kpna7 karyopherin subunit alpha 7 gene DOID:9005201 Oocyte/Zygote/Embryo Maturation Arrest 17 ISO RGD:2306472 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 17 PMID:28492532|PMID:36647821 8993276 Pknox1 PBX/knotted 1 homeobox 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1312771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 8993276 Pknox1 PBX/knotted 1 homeobox 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1312771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 8993276 Pknox1 PBX/knotted 1 homeobox 1 gene DOID:630 genetic disease ISO RGD:1312771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993276 Pknox1 PBX/knotted 1 homeobox 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1312771 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 8993276 Pknox1 PBX/knotted 1 homeobox 1 gene DOID:9263 homocystinuria ISO RGD:1312771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 8993276 Pknox1 PBX/knotted 1 homeobox 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312771 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8993330 Camk2g calcium/calmodulin dependent protein kinase II gamma gene DOID:1059 intellectual disability ISO RGD:1604851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:23033978|PMID:25741868|PMID:30184290 8993330 Camk2g calcium/calmodulin dependent protein kinase II gamma gene DOID:12849 autistic disorder ISO RGD:1604851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:23033978|PMID:25741868|PMID:30184290 8993330 Camk2g calcium/calmodulin dependent protein kinase II gamma gene DOID:3069 malignant astrocytoma disease_progression ISO RGD:1604851 D RGD:9068941 20200609 RGD PMID:12937144|REF_RGD_ID:13702480 8993330 Camk2g calcium/calmodulin dependent protein kinase II gamma gene DOID:630 genetic disease ISO RGD:1604851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993330 Camk2g calcium/calmodulin dependent protein kinase II gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604851 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8993330 Camk2g calcium/calmodulin dependent protein kinase II gamma gene DOID:9005810 Autosomal Dominant Intellectual Developmental Disorder 59 ISO RGD:1604851 D RGD:7240710 20200129 OMIM 8993330 Camk2g calcium/calmodulin dependent protein kinase II gamma gene DOID:9005810 Autosomal Dominant Intellectual Developmental Disorder 59 ISO RGD:1604851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 59 PMID:23033978|PMID:25741868|PMID:30184290 8993397 Tspan33 tetraspanin 33 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8993397 Tspan33 tetraspanin 33 gene DOID:630 genetic disease ISO RGD:1604171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:0050951 hereditary ataxia ISO RGD:1316463 D RGD:9068941 20220825 MouseDO 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:0050972 spinocerebellar ataxia type 21 ISO RGD:1316462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 PMID:26581903|PMID:30531813 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome ISO RGD:1316462 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome PMID:25741868|PMID:28492532 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:0111155 autosomal recessive spinocerebellar ataxia 21 ISO RGD:1316462 D RGD:7240710 20180418 OMIM 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:0111155 autosomal recessive spinocerebellar ataxia 21 ISO RGD:1316462 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome | ClinVar Annotator: match by term: SCYL1-related condition PMID:25741868|PMID:28492532|PMID:29419818|PMID:32146038|PMID:32860008 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:1059 intellectual disability ISO RGD:1316462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1316462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:2746 glycogen storage disease V ISO RGD:1316462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:3070 high grade glioma ISO RGD:1316462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:630 genetic disease ISO RGD:1316462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1316462 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1316462 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8993411 Scyl1 SCY1 like pseudokinase 1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1316462 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8993443 Treml1 triggering receptor expressed on myeloid cells like 1 gene DOID:630 genetic disease ISO RGD:1344660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993443 Treml1 triggering receptor expressed on myeloid cells like 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1344660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:0080403 orofacial cleft 10 ISO RGD:1315807 D RGD:7240710 20180130 OMIM 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:0080403 orofacial cleft 10 ISO RGD:1315807 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Orofacial cleft 10 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:630 genetic disease ISO RGD:1315807 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:674 cleft palate ISO RGD:1315807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16990542 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1315807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1315807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1315807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1315807 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8993455 Sumo1 small ubiquitin like modifier 1 gene DOID:9296 cleft lip ISO RGD:1315807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 8993464 Gpr101 G protein-coupled receptor 101 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8993464 Gpr101 G protein-coupled receptor 101 gene DOID:0060825 Christianson syndrome ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8993464 Gpr101 G protein-coupled receptor 101 gene DOID:0112007 growth hormone secreting pituitary adenoma 2 ISO RGD:1344763 D RGD:7240710 20180130 OMIM 8993464 Gpr101 G protein-coupled receptor 101 gene DOID:0112007 growth hormone secreting pituitary adenoma 2 ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 PMID:25470569|PMID:25806919|PMID:25806920|PMID:25806921|PMID:26792934|PMID:26815903|PMID:27245663|PMID:27498687|PMID:28492532|PMID:29389097 8993464 Gpr101 G protein-coupled receptor 101 gene DOID:12849 autistic disorder ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8993464 Gpr101 G protein-coupled receptor 101 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:1344763 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8993464 Gpr101 G protein-coupled receptor 101 gene DOID:630 genetic disease ISO RGD:1344763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8993464 Gpr101 G protein-coupled receptor 101 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8993464 Gpr101 G protein-coupled receptor 101 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1344763 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 8993464 Gpr101 G protein-coupled receptor 101 gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1344763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 8993472 Lyrm9 LYR motif containing 9 gene DOID:5409 lung small cell carcinoma ISO RGD:3210028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8993472 Lyrm9 LYR motif containing 9 gene DOID:630 genetic disease ISO RGD:3210028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993479 Ube2e1 ubiquitin conjugating enzyme E2 E1 gene DOID:37 skin disease ISO RGD:1354241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8993479 Ube2e1 ubiquitin conjugating enzyme E2 E1 gene DOID:630 genetic disease ISO RGD:1354241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993479 Ube2e1 ubiquitin conjugating enzyme E2 E1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1354241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8993479 Ube2e1 ubiquitin conjugating enzyme E2 E1 gene DOID:9007964 Arsenic Poisoning ISO RGD:1354241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317732 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11479539|PMID:11916958|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26282322|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27564575|PMID:27612026|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28166811|PMID:28362824|PMID:28492532|PMID:28832565|PMID:29336362|PMID:29482223|PMID:30903322|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32397312|PMID:5964029|PMID:9536098 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11479539|PMID:11916958|PMID:12030893|PMID:14557463|PMID:14981520|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:24024128|PMID:24345054|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27452399|PMID:27549087|PMID:27564575|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32041611|PMID:32397312|PMID:32792356|PMID:5964029|PMID:9536098 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1317732 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11479539|PMID:11916958|PMID:12030893|PMID:14557463|PMID:14981520|PMID:15126564|PMID:15181077|PMID:15732094|PMID:16199547|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17576681|PMID:18057387|PMID:18585921|PMID:18690553|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19762912|PMID:19763152|PMID:20307669|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22406018|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23963299|PMID:23989774|PMID:24024128|PMID:24345054|PMID:24451228|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27452399|PMID:27549087|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:27868354|PMID:28362824|PMID:28492532|PMID:28832565|PMID:28916377|PMID:29336362|PMID:29478747|PMID:29482223|PMID:29934652|PMID:30150100|PMID:30903322|PMID:30919572|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32041611|PMID:32320108|PMID:32397312|PMID:32792356|PMID:35922214|PMID:5964029|PMID:9536098 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050585 congenital generalized lipodystrophy ISO RGD:1317732 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Berardinelli syndrome | ClinVar Annotator: match by term: Berardinelli-Seip congenital lipodystrophy | ClinVar Annotator: match by term: Congenital generalized lipodystrophy PMID:11479539|PMID:12030893|PMID:12362029|PMID:14557463|PMID:14981520|PMID:15126564|PMID:15181077|PMID:15732094|PMID:16427281|PMID:16574104|PMID:16735770|PMID:1674639|PMID:17387721|PMID:17486577|PMID:17535271|PMID:17663003|PMID:18057387|PMID:18093937|PMID:18585921|PMID:18690553|PMID:18790819|PMID:19041432|PMID:19226263|PMID:19396477|PMID:19438831|PMID:19762912|PMID:20301391|PMID:20598714|PMID:20806400|PMID:21126715|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23553728|PMID:23564749|PMID:23659685|PMID:23989774|PMID:24345054|PMID:24451228|PMID:24604904|PMID:24778225|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25741868|PMID:25832430|PMID:26072926|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27452399|PMID:27549087|PMID:27612026|PMID:27632409|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:28916377|PMID:29478747|PMID:30903322|PMID:31372974|PMID:31475473|PMID:31770241|PMID:32320108|PMID:32792356|PMID:5964029 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1317732 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0050788 proximal symphalangism ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0070204 familial partial lipodystrophy type 3 ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 ISO RGD:1317732 D RGD:7240710 20201223 OMIM 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 ISO RGD:1317732 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: DHMN VC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VC PMID:11479539|PMID:12362029|PMID:14981520|PMID:15126564|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:18585921|PMID:18790819|PMID:19226263|PMID:19396477|PMID:20301391|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23292937|PMID:23553728|PMID:24345054|PMID:24451228|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25741868|PMID:25832430|PMID:26072926|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27549087|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473|PMID:32320108|PMID:32397312|PMID:5964029 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1317732 D RGD:7240710 20180130 OMIM 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0110770 hereditary spastic paraplegia 17 ISO RGD:1317732 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 PMID:11479539|PMID:14981520|PMID:15126564|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23142943|PMID:23553728|PMID:24345054|PMID:24451228|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27549087|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473|PMID:32320108|PMID:5964029 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1317732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:1317732 D RGD:7240710 20180523 OMIM 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111136 congenital generalized lipodystrophy type 2 ISO RGD:1317732 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: BRUNZELL SYNDROME, BSCL2-RELATED | ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 PMID:11479539|PMID:11916958|PMID:12030893|PMID:12362029|PMID:14557463|PMID:15126564|PMID:15181077|PMID:16735770|PMID:17535271|PMID:17576681|PMID:17663003|PMID:18057387|PMID:18093937|PMID:18690553|PMID:19041432|PMID:19226263|PMID:19438831|PMID:19762912|PMID:20301391|PMID:21126715|PMID:23142943|PMID:23564749|PMID:23659685|PMID:23963299|PMID:23989774|PMID:24778225|PMID:25588603|PMID:25741868|PMID:26072926|PMID:26467025|PMID:27144933|PMID:27452399|PMID:27612026|PMID:27632409|PMID:28492532|PMID:28916377|PMID:29478747|PMID:30903322|PMID:31770241|PMID:32041611|PMID:32792356|PMID:9536098 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 ISO RGD:1317732 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:11479539|PMID:14557463|PMID:14981520|PMID:15126564|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:17486577|PMID:18585921|PMID:18790819|PMID:19226263|PMID:19396477|PMID:20598714|PMID:20806400|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:23989774|PMID:24345054|PMID:24604904|PMID:25219579|PMID:25454168|PMID:25487175|PMID:25588603|PMID:25741868|PMID:25832430|PMID:26467025|PMID:26815532|PMID:26989944|PMID:27027447|PMID:27144933|PMID:27738760|PMID:27862672|PMID:28362824|PMID:28492532|PMID:31372974|PMID:31475473|PMID:32320108|PMID:5964029 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1317732 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:1059 intellectual disability ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1317732 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17387721|PMID:17486577|PMID:20806400|PMID:21957196|PMID:23142943|PMID:23989774|PMID:24451228|PMID:24604904|PMID:25487175|PMID:26815532|PMID:27549087|PMID:28492532 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:12336 male infertility ISO RGD:1317733 D RGD:9068941 20220825 MouseDO 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:14227 azoospermia ISO RGD:1308135 D RGD:9068941 20200609 RGD PMID:25934999|REF_RGD_ID:11085488 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:14228 oligospermia ISO RGD:1317732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26181198 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317732 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11479539|PMID:14981520|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532|PMID:28832565|PMID:30004997|PMID:5964029 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317732 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:11479539|PMID:14981520|PMID:15126564|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:32320108|PMID:5964029 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:3459 breast carcinoma ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:574 peripheral nervous system disease ISO RGD:1317732 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:14981520|PMID:15126564|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32320108|PMID:5964029 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:630 genetic disease ISO RGD:1317732 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479539|PMID:12362029|PMID:14981520|PMID:15126564|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19226263|PMID:19396477|PMID:20301391|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:23963299|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25588603|PMID:25741868|PMID:26072926|PMID:26467025|PMID:28492532|PMID:29336362|PMID:30150100|PMID:32041611|PMID:32320108|PMID:32397312|PMID:5964029 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:811 lipodystrophy ISO RGD:1317732 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Lipodystrophy PMID:18057387|PMID:25741868 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:870 neuropathy ISO RGD:1317732 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:14981520|PMID:15126564|PMID:15732094|PMID:16427281|PMID:16574104|PMID:1674639|PMID:17387721|PMID:18585921|PMID:18790819|PMID:19396477|PMID:20598714|PMID:21750110|PMID:21957196|PMID:22045697|PMID:22474068|PMID:23553728|PMID:24345054|PMID:25219579|PMID:25454168|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32320108|PMID:5964029 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9001239 Delayed Puberty ISO RGD:1317732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25462787 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9001513 Asthenozoospermia ISO RGD:1317732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26181198 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1317732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9004262 Isolated Systolic Hypertension ISO RGD:1317732 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated systolic hypertension PMID:25741868|PMID:28492532 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9006205 Animal Disease Models ISO RGD:1317732 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25462787 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9007692 Insulin Resistance ISO RGD:1308135 D RGD:9068941 20200609 RGD PMID:25934999|REF_RGD_ID:11085488 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9007902 Progressive Encephalopathy, with or without Lipodystrophy ISO RGD:1317732 D RGD:7240710 20180130 OMIM 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9007902 Progressive Encephalopathy, with or without Lipodystrophy ISO RGD:1317732 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Encephalopathy, progressive, with or without lipodystrophy PMID:11479539|PMID:16735770|PMID:18093937|PMID:19226263|PMID:23564749|PMID:24024128|PMID:25741868|PMID:27452399|PMID:28492532 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9351 diabetes mellitus ISO RGD:1317732 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:23430896|PMID:23963299|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30004997 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9351 diabetes mellitus ISO RGD:1317732 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:23430896|PMID:23963299|PMID:25588603|PMID:25741868|PMID:26467025|PMID:28492532 8993496 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:1308135 D RGD:9068941 20200609 RGD PMID:12584444|REF_RGD_ID:1600600 8993522 Lim2 lens intrinsic membrane protein 2 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1342579 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 8993522 Lim2 lens intrinsic membrane protein 2 gene DOID:0080600 COVID-19 ISO RGD:1342579 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8993522 Lim2 lens intrinsic membrane protein 2 gene DOID:0110263 cataract 19 multiple types ISO RGD:1342579 D RGD:7240710 20180130 OMIM 8993522 Lim2 lens intrinsic membrane protein 2 gene DOID:0110263 cataract 19 multiple types ISO RGD:1342579 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cataract 19 multiple types PMID:11917274|PMID:18596884|PMID:21386927|PMID:25741868|PMID:28492532|PMID:32202185|PMID:33078099|PMID:33708862|PMID:33923544|PMID:35736209 8993522 Lim2 lens intrinsic membrane protein 2 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1342579 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 8993522 Lim2 lens intrinsic membrane protein 2 gene DOID:630 genetic disease ISO RGD:1342579 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8993522 Lim2 lens intrinsic membrane protein 2 gene DOID:83 cataract ISO RGD:1342579 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Cortical pulverulent cataract PMID:25741868|PMID:28492532|PMID:32202185|PMID:33078099|PMID:33708862|PMID:33923544|PMID:35736209 8993522 Lim2 lens intrinsic membrane protein 2 gene DOID:83 cataract onset ISO RGD:1342579 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: p.F105V (human) PMID:11917274|REF_RGD_ID:1600309 8993531 Ctrc chymotrypsin C gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318112 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8993531 Ctrc chymotrypsin C gene DOID:9006190 Chronic Pancreatitis ISO RGD:1318112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to PMID:18059268|PMID:18172691|PMID:19453252|PMID:20625975|PMID:22427236|PMID:22942235|PMID:23951356|PMID:25569187|PMID:25741868|PMID:28492532 8993531 Ctrc chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19453252|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:25251442|PMID:25569187|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:27264265|PMID:27409067|PMID:28166811|PMID:28492532|PMID:28497564|PMID:29669919|PMID:30420730|PMID:9536098 8993531 Ctrc chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19404200|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28166811|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098 8993531 Ctrc chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:190101|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23721890|PMID:23951356|PMID:24002981|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098 8993531 Ctrc chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23686146|PMID:23721890|PMID:23951356|PMID:24002981|PMID:24413785|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:33101984|PMID:8168476|PMID:9536098 8993531 Ctrc chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1318112 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:16199547|PMID:17576681|PMID:18059268|PMID:18172691|PMID:19404200|PMID:19407484|PMID:19453252|PMID:19951900|PMID:20625975|PMID:21631589|PMID:22427236|PMID:22580415|PMID:22942235|PMID:23135764|PMID:23430245|PMID:23686146|PMID:23721890|PMID:23951356|PMID:24002981|PMID:24413785|PMID:25251442|PMID:25383785|PMID:25569187|PMID:25636364|PMID:25658757|PMID:25741868|PMID:26013824|PMID:26022124|PMID:26100556|PMID:26166474|PMID:27086061|PMID:27264265|PMID:27409067|PMID:28440306|PMID:28492532|PMID:28497564|PMID:28502372|PMID:28650851|PMID:29173301|PMID:29669919|PMID:30134826|PMID:30420730|PMID:30640231|PMID:31900721|PMID:32948427|PMID:33101984|PMID:35171259|PMID:8168476|PMID:9536098 8993531 Ctrc chymotrypsin C gene DOID:9008999 Hereditary Pancreatitis susceptibility ISO RGD:1318112 D RGD:7240710 20230505 OMIM 8993543 Ube3d ubiquitin protein ligase E3D gene DOID:0111953 immunodeficiency 23 ISO RGD:1315581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 23 PMID:24931394 8993543 Ube3d ubiquitin protein ligase E3D gene DOID:630 genetic disease ISO RGD:1315581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0001816 angiosarcoma ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050860 colorectal adenoma ISO RGD:734356 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050861 colorectal adenocarcinoma ISO RGD:734356 D RGD:9068941 20200609 RGD PMID:8264230|REF_RGD_ID:13210753 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:734356 D RGD:9068941 20220825 RGD mRNA,protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:734356 D RGD:9068941 20220826 RGD mRNA, protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:0080600 COVID-19 ISO RGD:734356 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10286 prostate carcinoma ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased activation:tumor:nuclear localization in 13/16 (81.25%) of BPH and 31/36 (86.1%) of adenocarcinomas (PCa) with significantly stronger staining in PCa (P=0.006) PMID:16413376|REF_RGD_ID:2290480 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10325 silicosis ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27621875 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:2943 D RGD:9068941 20200609 RGD PMID:11358932|REF_RGD_ID:10047414 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:10763 hypertension ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039778 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:13533 osteopetrosis ISO RGD:10828 D RGD:9068941 20200609 RGD PMID:15314684|REF_RGD_ID:1549450 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:13619 extrahepatic cholestasis ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1596 depressive disorder ISO RGD:2943 D RGD:9068941 20200609 RGD protein:increased expression:basolateral amygdala PMID:10719210|REF_RGD_ID:2290593 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1612 breast cancer ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased activation:tumor: 50% of cases showed activated protein present in mitotic cells at the invasive front, associated with tumor cell proliferation and microvessel density PMID:16733206|REF_RGD_ID:2290479 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1686 glaucoma ISO RGD:734356 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:1824 status epilepticus ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7984056 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2316 brain ischemia ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased expression, increased activation:significantly higher levels in invading vs organ-confined specimens (P<0.001) PMID:9748134|REF_RGD_ID:2290484 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2870 endometrial adenocarcinoma no_association ISO RGD:734356 D RGD:9068941 20200609 RGD protein, mRNA::endometrial epithelium and stroma:no correlation between expression and type of tissue or cancer stage or grade PMID:10684716|REF_RGD_ID:2290482 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased expression:tumor:positive correlation between expression and tumor grade (P=0.027) PMID:15800680|REF_RGD_ID:2290481 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:2957 pulmonary tuberculosis ISO RGD:734356 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:macrophage, nucleus PMID:19737230|REF_RGD_ID:4889999 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:10828 D RGD:9068941 20221117 RGD mRNA, protein:increased expression:lung (mouse) PMID:34331613|REF_RGD_ID:155663371 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:3347 osteosarcoma ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18645001 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:4450 renal cell carcinoma ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased activation:tumor:associated with early carcinogenesis--10/18 (55.5%) of pT1a cases vs 11/44 (25%) of pT1b or greater cases PMID:16006965|REF_RGD_ID:1549443 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:4451 renal carcinoma ISO RGD:2943 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9405228|REF_RGD_ID:2293758 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:574 peripheral nervous system disease ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17686523 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:630 genetic disease ISO RGD:734356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:676 juvenile rheumatoid arthritis ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:684 hepatocellular carcinoma ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20214788 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:8567 Hodgkin's lymphoma ISO RGD:734356 D RGD:9068941 20200609 RGD PMID:12145210|REF_RGD_ID:1549449 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9000039 Spinal Cord Injuries ISO RGD:2943 D RGD:9068941 20200609 RGD protein:increased phosphorylation:neuron PMID:21132399|REF_RGD_ID:4889994 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17355264 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9000998 Brain Injuries ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9001041 Asphyxia ISO RGD:10828 D RGD:9068941 20200609 RGD PMID:18620825|REF_RGD_ID:4890002 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9001472 Nasal Polyps ISO RGD:734356 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal cavity epithelium PMID:19158123|REF_RGD_ID:4890001 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9001642 Intestinal Polyps ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12584176 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:734356 D RGD:9068941 20200609 RGD protein:increased expression:malignant tissues PMID:17634427|REF_RGD_ID:2290478 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:734356 D RGD:9068941 20200609 RGD Jun interacts with androgen receptor and ETV1 to mediate invasion PMID:17634427|REF_RGD_ID:2290478 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9002928 Colonic Neoplasms ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12628520|PMID:18283038 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9004009 Reperfusion Injury ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7922267 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9004649 Heat Stroke ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9004871 Mercury Poisoning, Nervous System ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15515958 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9005172 Lung Neoplasms ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20716630 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9007188 Liver Neoplasms ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12127263|PMID:24183702 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:734356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21726611|PMID:8777434 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9008091 Optic Nerve Injuries ISO RGD:2943 D RGD:9068941 20200609 RGD PMID:10366744|REF_RGD_ID:10047417 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9008939 Breast Neoplasms ISO RGD:734356 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 8993560 Jun Jun proto-oncogene, AP-1 transcription factor subunit gene DOID:9675 pulmonary emphysema ISO RGD:10828 D RGD:9068941 20220825 MouseDO OMIM:130700 8993567 Appl2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 gene DOID:303 substance-related disorder ISO RGD:1605653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8993567 Appl2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 gene DOID:630 genetic disease ISO RGD:1605653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993567 Appl2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605653 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8993599 Ifit3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:0080600 COVID-19 ISO RGD:1353716 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8993599 Ifit3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:14497 Wolman disease ISO RGD:1353716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 8993599 Ifit3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:6000 congestive heart failure ISO RGD:1353716 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8993599 Ifit3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:630 genetic disease ISO RGD:1353716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993599 Ifit3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1353716 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 8993599 Ifit3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:9001488 Human Influenza ISO RGD:1353716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 8993599 Ifit3 interferon induced protein with tetratricopeptide repeats 3 gene DOID:9006205 Animal Disease Models ISO RGD:1353716 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:0050771 pheochromocytoma ISO RGD:69062 D RGD:9068941 20201211 RGD PMID:12036912|REF_RGD_ID:619590 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:0050773 paraganglioma ISO RGD:69062 D RGD:9068941 20201211 RGD PMID:12036912|REF_RGD_ID:619590 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:0050868 hepatocellular adenoma ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17620307 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:0050908 myelodysplastic syndrome ISO RGD:69115 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:9171997|REF_RGD_ID:10450601 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:69115 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:69115 D RGD:7240710 20180130 OMIM 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:69115 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:11986963|PMID:15026335|PMID:15607373|PMID:16199547|PMID:17030811|PMID:17372254|PMID:17519308|PMID:17576681|PMID:18288099|PMID:19141585|PMID:20075119|PMID:20530095|PMID:20824794|PMID:21289244|PMID:21454826|PMID:21575944|PMID:22026581|PMID:22291433|PMID:22547391|PMID:23273568|PMID:23505216|PMID:23555276|PMID:24033266|PMID:24819502|PMID:25058500|PMID:25586243|PMID:25741868|PMID:26065650|PMID:26467025|PMID:26603463|PMID:26762354|PMID:26829051|PMID:2694462|PMID:26989398|PMID:27038812|PMID:27153395|PMID:27997549|PMID:28425505|PMID:28492532|PMID:28667701|PMID:28687353|PMID:28801450|PMID:29625052|PMID:29954938|PMID:30065701|PMID:30990521|PMID:31760486|PMID:31980526|PMID:32052251|PMID:32232325|PMID:32386678|PMID:32761341|PMID:33140857|PMID:3328816|PMID:33316141|PMID:34313605|PMID:34322384|PMID:34426522|PMID:35323929|PMID:35355569|PMID:36149413|PMID:36520683|PMID:9536098 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:10976 membranous glomerulonephritis treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:24583340|REF_RGD_ID:10045363 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:18334837|REF_RGD_ID:2293592 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:11054 urinary bladder cancer susceptibility ISO RGD:69116 D RGD:9068941 20200609 RGD PMID:18027869|REF_RGD_ID:2293595 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:11202 primary hyperparathyroidism ISO RGD:69115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperparathyroidism PMID:21289244|PMID:25741868|PMID:26762354|PMID:26989398|PMID:27038812|PMID:27153395|PMID:28492532|PMID:30990521|PMID:3328816 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:11446 sciatic neuropathy ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:sciatic nerve PMID:21959983|REF_RGD_ID:10045367 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:1324 lung cancer disease_progression ISO RGD:69062 D RGD:9068941 20220707 RGD protein:decreased expression:lung (rat) PMID:20512841|REF_RGD_ID:152998913 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:1612 breast cancer ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:18030569|REF_RGD_ID:2293594 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:1612 breast cancer ISO RGD:69115 D RGD:9068941 20200609 RGD DNA:SNP PMID:18174243|REF_RGD_ID:2289652 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:1612 breast cancer ISO RGD:69115 D RGD:9068941 20200609 RGD protein:increased localization:cytoplasm PMID:12244302|REF_RGD_ID:734746 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:1686 glaucoma ISO RGD:69062 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:retina, Muller cell PMID:16707124|REF_RGD_ID:2293623 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:169 neuroendocrine tumor ISO RGD:69115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroendocrine neoplasm 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:1984 rectal benign neoplasm ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15525823 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:2154 nephroblastoma disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:14760081|REF_RGD_ID:2293605 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:2394 ovarian cancer ISO RGD:69115 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:17372254|PMID:25741868|PMID:28492532 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:10886076|REF_RGD_ID:2293608 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:2696 Leydig cell tumor ISO RGD:69116 D RGD:9068941 20200609 RGD associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes PMID:18310289|REF_RGD_ID:2293582 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16787597|REF_RGD_ID:2293620 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:3021 acute kidney failure ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16557226|REF_RGD_ID:2293624 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:3125 multiple endocrine neoplasia ISO RGD:69115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:28492532 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:3125 multiple endocrine neoplasia susceptibility ISO RGD:69062 D RGD:9068941 20200609 RGD DNA, protein:frameshift mutation, decreased expression PMID:17030811|REF_RGD_ID:2293616 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:3829 pituitary adenoma ISO RGD:69062 D RGD:9068941 20201211 RGD PMID:12036912|REF_RGD_ID:619590 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:9500468|REF_RGD_ID:13673920 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:4448 macular degeneration ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:20054800|REF_RGD_ID:10043353 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:4450 renal cell carcinoma ISO RGD:69115 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18425369|REF_RGD_ID:2293590 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:17924468|PMID:18495610|REF_RGD_ID:2289127|REF_RGD_ID:2293589 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:5223 infertility ISO RGD:69062 D RGD:9068941 20210611 RGD PMID:30893315|REF_RGD_ID:126908018 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:5409 lung small cell carcinoma ISO RGD:69115 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9500468|REF_RGD_ID:13673920 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:5844 myocardial infarction ISO RGD:69116 D RGD:9068941 20200609 RGD PMID:22492676|REF_RGD_ID:10045366 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:5844 myocardial infarction treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:22492676|REF_RGD_ID:10045366 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:630 genetic disease ISO RGD:69115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:6432 pulmonary hypertension treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:22383500|REF_RGD_ID:10045357 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:684 hepatocellular carcinoma ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20698225 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:83 cataract ISO RGD:69062 D RGD:9068941 20210416 RGD PMID:12036912|PMID:17030811|REF_RGD_ID:2293616|REF_RGD_ID:619590 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:83 cataract ISO RGD:69062 D RGD:9068941 20210514 RGD in KO rat PMID:30893315|REF_RGD_ID:126908018 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:8469 influenza ISO RGD:69116 D RGD:9068941 20221110 RGD PMID:20081832|REF_RGD_ID:155641261 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:8541 Sezary's disease ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551667 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:8552 chronic myeloid leukemia ISO RGD:69115 D RGD:9068941 20200609 RGD Protein:increased expression:Blood,common myeloid progenitor, CD34-positive PMID:20200561|REF_RGD_ID:13673878 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:8634 prostate carcinoma in situ ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20932324 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:8634 prostate carcinoma in situ ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:18691549|REF_RGD_ID:2299085 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium PMID:18301453|REF_RGD_ID:2293574 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9000039 Spinal Cord Injuries ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:spinal cord, neuron, microglial cell PMID:18319192|REF_RGD_ID:2293615 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9000081 Lymphatic Metastasis ISO RGD:69115 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:12015771|REF_RGD_ID:2293607 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9000081 Lymphatic Metastasis ISO RGD:69115 D RGD:9068941 20200609 RGD associated with non-small cell lung carcinoma PMID:28601655|REF_RGD_ID:13673921 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9000189 Fallopian Tube Neoplasms ISO RGD:69115 D RGD:9068941 20200609 RGD protein:decreased expression:fallopian tube PMID:17927588|REF_RGD_ID:2299088 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9000217 Stomach Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138205 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9000784 Fibrosis ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:renal tubule PMID:16137007|REF_RGD_ID:2293625 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9000998 Brain Injuries ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex PMID:21728064|REF_RGD_ID:10045359 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9001341 Chloracne ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:69062 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:69062 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, glomerulus PMID:15698433|REF_RGD_ID:2293628 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9002165 Diabetic Nephropathies ISO RGD:69062 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16805985|REF_RGD_ID:2293619 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9002234 Pituitary Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9002245 Intestinal Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185511 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9002265 Kidney Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21693435 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12727815|PMID:20932324|PMID:29610475 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9002304 Prostatic Neoplasms ISO RGD:69116 D RGD:9068941 20200609 RGD PMID:18006855|REF_RGD_ID:2293596 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:69115 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:18415709|REF_RGD_ID:2293591 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9002704 Leukoencephalopathies treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:24322053|REF_RGD_ID:10045369 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9002762 Ovarian Neoplasms ISO RGD:69116 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:11376116|REF_RGD_ID:2293610 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:15701850|REF_RGD_ID:2299089 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:69115 D RGD:9068941 20200609 RGD associated with Papillomavirus Infections;protein:decreased expression:cervical epithelium PMID:18301453|REF_RGD_ID:2293574 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9003566 Mesothelioma ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18301454 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9004009 Reperfusion Injury ISO RGD:69062 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:15799773|REF_RGD_ID:2293627 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9004207 Testicular Neoplasms ISO RGD:69116 D RGD:9068941 20200609 RGD protein:decreased expression:testis PMID:11376116|REF_RGD_ID:2293610 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9004265 Endometrioid Carcinomas ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:17985331|REF_RGD_ID:2299091 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9004268 Uterine Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:9321826|REF_RGD_ID:2293630 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9005172 Lung Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12466968|PMID:16391232|PMID:20512841 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69062 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:15844214|REF_RGD_ID:2293626 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:69062 D RGD:9068941 20200609 RGD PMID:22651929|REF_RGD_ID:10045559 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9005539 Familial Prostate Cancer ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69115 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15026335|PMID:15607373|PMID:17030811|PMID:17372254|PMID:17576681|PMID:19141585|PMID:20075119|PMID:20824794|PMID:21289244|PMID:21454826|PMID:21575944|PMID:22026581|PMID:22291433|PMID:22547391|PMID:23273568|PMID:23505216|PMID:24033266|PMID:24819502|PMID:25058500|PMID:25586243|PMID:25741868|PMID:26065650|PMID:26467025|PMID:26603463|PMID:26762354|PMID:26989398|PMID:27038812|PMID:27153395|PMID:27997549|PMID:28425505|PMID:28492532|PMID:28667701|PMID:28687353|PMID:28801450|PMID:29625052|PMID:30065701|PMID:30990521|PMID:31980526|PMID:32052251|PMID:32232325|PMID:32386678|PMID:32761341|PMID:33140857|PMID:3328816|PMID:33316141|PMID:34426522|PMID:35355569|PMID:9536098 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69115 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:15026335|PMID:15607373|PMID:17030811|PMID:17372254|PMID:17576681|PMID:18288099|PMID:19141585|PMID:20075119|PMID:20824794|PMID:21289244|PMID:21454826|PMID:21575944|PMID:22026581|PMID:22291433|PMID:22547391|PMID:23273568|PMID:23505216|PMID:24033266|PMID:24819502|PMID:25058500|PMID:25586243|PMID:25741868|PMID:26065650|PMID:26467025|PMID:26603463|PMID:26762354|PMID:2694462|PMID:26989398|PMID:27038812|PMID:27153395|PMID:27997549|PMID:28425505|PMID:28492532|PMID:28667701|PMID:28687353|PMID:28801450|PMID:29625052|PMID:29954938|PMID:30065701|PMID:30990521|PMID:31760486|PMID:31980526|PMID:32052251|PMID:32232325|PMID:32386678|PMID:32761341|PMID:33140857|PMID:3328816|PMID:33316141|PMID:34313605|PMID:34322384|PMID:34426522|PMID:35323929|PMID:35355569|PMID:36149413|PMID:36334246|PMID:36520683|PMID:9536098 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9007188 Liver Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391232 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9007715 Endometrial Neoplasms ISO RGD:69115 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:15188025|REF_RGD_ID:2299090 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9008114 Helicobacter Infections ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15138205 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9008939 Breast Neoplasms ISO RGD:69115 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17092400 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9119 acute myeloid leukemia ISO RGD:69115 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:9171997|REF_RGD_ID:10450601 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9669 senile cataract ISO RGD:69115 D RGD:9068941 20200609 RGD PMID:21501079|REF_RGD_ID:10045354 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9970 obesity ISO RGD:69062 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:23357529|REF_RGD_ID:10045356 8993614 Cdkn1b cyclin dependent kinase inhibitor 1B gene DOID:9970 obesity ISO RGD:69116 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:23357529|REF_RGD_ID:10045356 8993626 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:25741868|PMID:28492532|PMID:9536098 8993626 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:23647072|PMID:25741868|PMID:28492532|PMID:9536098 8993626 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:10283 prostate cancer ISO RGD:1315873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8993626 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1315873 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 8993626 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:2729 dyskeratosis congenita ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 8993626 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8993626 Arhgef15 Rho guanine nucleotide exchange factor 15 gene DOID:630 genetic disease ISO RGD:1315873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8993649 Fbxo44 F-box protein 44 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606989 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8993649 Fbxo44 F-box protein 44 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606989 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8993649 Fbxo44 F-box protein 44 gene DOID:11612 polycystic ovary syndrome ISO RGD:1606989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8993649 Fbxo44 F-box protein 44 gene DOID:630 genetic disease ISO RGD:1606989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993649 Fbxo44 F-box protein 44 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8993649 Fbxo44 F-box protein 44 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 8993661 Fam162b family with sequence similarity 162 member B gene DOID:0060163 body dysmorphic disorder ISO RGD:1351794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 8993661 Fam162b family with sequence similarity 162 member B gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1351794 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8993661 Fam162b family with sequence similarity 162 member B gene DOID:1059 intellectual disability ISO RGD:1351794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8993661 Fam162b family with sequence similarity 162 member B gene DOID:10907 microcephaly ISO RGD:1351794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8993661 Fam162b family with sequence similarity 162 member B gene DOID:1826 epilepsy ISO RGD:1351794 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8993661 Fam162b family with sequence similarity 162 member B gene DOID:630 genetic disease ISO RGD:1351794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993661 Fam162b family with sequence similarity 162 member B gene DOID:9000495 Tremor ISO RGD:1351794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8993661 Fam162b family with sequence similarity 162 member B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351794 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8993667 Hipk3 homeodomain interacting protein kinase 3 gene DOID:1059 intellectual disability ISO RGD:731500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8993667 Hipk3 homeodomain interacting protein kinase 3 gene DOID:630 genetic disease ISO RGD:731500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993695 Dhrs7b dehydrogenase/reductase 7B gene DOID:630 genetic disease ISO RGD:1601764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993749 Myadml2 myeloid associated differentiation marker like 2 gene DOID:630 genetic disease ISO RGD:2303467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993754 Rimklb ribosomal modification protein rimK like family member B gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1606518 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8993754 Rimklb ribosomal modification protein rimK like family member B gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 8993754 Rimklb ribosomal modification protein rimK like family member B gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 8993754 Rimklb ribosomal modification protein rimK like family member B gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8993754 Rimklb ribosomal modification protein rimK like family member B gene DOID:0111621 Temtamy syndrome ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8993754 Rimklb ribosomal modification protein rimK like family member B gene DOID:630 genetic disease ISO RGD:1606518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993754 Rimklb ribosomal modification protein rimK like family member B gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1606518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8993782 Tmem79 transmembrane protein 79 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8993782 Tmem79 transmembrane protein 79 gene DOID:0111940 immunodeficiency 42 ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8993782 Tmem79 transmembrane protein 79 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8993782 Tmem79 transmembrane protein 79 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1601945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8993782 Tmem79 transmembrane protein 79 gene DOID:1540 parathyroid carcinoma ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8993782 Tmem79 transmembrane protein 79 gene DOID:3310 atopic dermatitis ISO RGD:1332023 D RGD:9068941 20220825 MouseDO OMIM:603165 8993782 Tmem79 transmembrane protein 79 gene DOID:5812 MHC class II deficiency ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8993782 Tmem79 transmembrane protein 79 gene DOID:630 genetic disease ISO RGD:1601945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993782 Tmem79 transmembrane protein 79 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8993790 Rab44 RAB44, member RAS oncogene family gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1602152 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8993830 Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:2223 platelet storage pool deficiency ISO RGD:1315694 D RGD:9068941 20220825 MouseDO OMIM:185050 8993830 Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1315693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:32565547 8993830 Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:630 genetic disease ISO RGD:1315693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993830 Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:9001110 Hermansky-Pudlak Syndrome 11 ISO RGD:1315693 D RGD:7240710 20210203 OMIM 8993830 Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 gene DOID:9001110 Hermansky-Pudlak Syndrome 11 ISO RGD:1315693 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 PMID:25741868|PMID:32565547 8993860 Mutyh mutY DNA glycosylase gene DOID:0050424 familial adenomatous polyposis ISO RGD:731074 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis PMID:11818965|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:12917422|PMID:14991577|PMID:15034862|PMID:15036665|PMID:15465463|PMID:15635083|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16941501|PMID:17031395|PMID:17081686|PMID:17161978|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17674103|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18172263|PMID:18271935|PMID:18414213|PMID:18506705|PMID:18534194|PMID:18992148|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21153778|PMID:21171015|PMID:21178863|PMID:21235684|PMID:21520333|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22473953|PMID:22538434|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22922830|PMID:22926731|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23561487|PMID:23605219|PMID:23625202|PMID:23729658|PMID:23805267|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24953332|PMID:25186627|PMID:25318351|PMID:25368107|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25937855|PMID:25938944|PMID:25980754|PMID:26202870|PMID:26332594|PMID:26377631|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26822237|PMID:26845104|PMID:26902849|PMID:27014339|PMID:27153395|PMID:27194394|PMID:27631816|PMID:27696107|PMID:27783336|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28533537|PMID:28551381|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29147111|PMID:29371908|PMID:29406563|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29625052|PMID:29766397|PMID:29785153|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30122538|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30787465|PMID:30833417|PMID:30877237|PMID:30953464|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31512090|PMID:31589614|PMID:31618753|PMID:31829624|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32283892|PMID:32338768|PMID:32390558|PMID:32570879|PMID:32615015|PMID:32830346|PMID:32854451|PMID:32868316|PMID:33087929|PMID:33130102|PMID:33193653|PMID:33258288|PMID:33332384|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:33748650|PMID:34026625|PMID:34259353|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34426522|PMID:34704405|PMID:34816434|PMID:35264596|PMID:35534704|PMID:35535697|PMID:35545820|PMID:35668106 8993860 Mutyh mutY DNA glycosylase gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:731074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8993860 Mutyh mutY DNA glycosylase gene DOID:0060276 pontocerebellar hypoplasia type 7 ISO RGD:731074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 7 PMID:18271935|PMID:25741868|PMID:28492532 8993860 Mutyh mutY DNA glycosylase gene DOID:0070271 Lynch syndrome 1 ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 PMID:11818965|PMID:12606733|PMID:12917422|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 8993860 Mutyh mutY DNA glycosylase gene DOID:0070271 Lynch syndrome 1 ISO RGD:731074 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:28492532 8993860 Mutyh mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:7240710 20180130 OMIM 8993860 Mutyh mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:10612827|PMID:11092888|PMID:11295288|PMID:11433026|PMID:11801590|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12056405|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:14579148|PMID:14618256|PMID:14633673|PMID:14991577|PMID:14999774|PMID:15034862|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15273732|PMID:15326180|PMID:15366000|PMID:15465463|PMID:15635083|PMID:15673720|PMID:15690400|PMID:15761860|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16042573|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16207212|PMID:16234049|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:16774938|PMID:16890597|PMID:16929514|PMID:16941501|PMID:16996809|PMID:17031395|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17207658|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18294051|PMID:18301448|PMID:18414213|PMID:18422726|PMID:18433509|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18776649|PMID:18787472|PMID:18811933|PMID:18992148|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19443904|PMID:19479711|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19841264|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20223003|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20628285|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:2084865|PMID:20848659|PMID:21061173|PMID:21063410|PMID:21078199|PMID:21153778|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21235684|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:21962078|PMID:22158503|PMID:22252118|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23460355|PMID:23507534|PMID:23561487|PMID:23605219|PMID:23621914|PMID:23625202|PMID:23677194|PMID:23729658|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24556621|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25318351|PMID:25326637|PMID:25368107|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25590978|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25957691|PMID:25980754|PMID:26138249|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26414517|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26615199|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26944241|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27276934|PMID:27377421|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27696107|PMID:27705013|PMID:27732944|PMID:27797849|PMID:27799157|PMID:27829682|PMID:27870730|PMID:27978560|PMID:28087410|PMID:28127763|PMID:28135048|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28243543|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28577310|PMID:28634180|PMID:28644590 8993860 Mutyh mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754767|PMID:29766397|PMID:29879026|PMID:29915346|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30675318|PMID:30676620|PMID:30719162|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31666926|PMID:31739127|PMID:31742824|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32133419|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390703|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32904697|PMID:32973888|PMID:33011440|PMID:33024574|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33878367|PMID:34285288|PMID:9536098|PMID:9846876 8993860 Mutyh mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 | ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:10612827|PMID:11051386|PMID:11092888|PMID:11295288|PMID:11433026|PMID:11801590|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12056405|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14618256|PMID:14633673|PMID:14991577|PMID:14999774|PMID:15034862|PMID:15036665|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15273732|PMID:15326180|PMID:15366000|PMID:15465463|PMID:15635083|PMID:15673720|PMID:15690400|PMID:15761860|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16042573|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16207212|PMID:16234049|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:166460|PMID:16774938|PMID:16890597|PMID:16929514|PMID:16941501|PMID:16996809|PMID:17031395|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17207658|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18294051|PMID:18301448|PMID:18414213|PMID:18422726|PMID:18433509|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:186631|PMID:18776649|PMID:18811933|PMID:18992148|PMID:19031083|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19443904|PMID:19479711|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19841264|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20149637|PMID:20191381|PMID:20223003|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20628285|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:2084865|PMID:20848659|PMID:21061173|PMID:21063410|PMID:21078199|PMID:21153778|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21235684|PMID:21287799|PMID:21424714|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21901162|PMID:21952991|PMID:21962078|PMID:22158503|PMID:22252118|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23460355|PMID:23507534|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23621914|PMID:23625202|PMID:23677194|PMID:23729658|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24556621|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25318351|PMID:25326637|PMID:25368107|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25590978|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25957691|PMID:25980754|PMID:25995449|PMID:26138249|PMID:26202870|PMID:26269718|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26414517|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26615199|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26944241|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27276934|PMID:27377421|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27696107|PMID:27705013|PMID:27720647|PMID:27732944|PMID:27783336|PMID:27797849|PMID:27799157|PMID:27829682|PMID:27870730|PMID:27878467|PMID:27978560|PMID:28087410|PMID:28127763|PMID:28130451|PMID:28135048|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314 8993860 Mutyh mutY DNA glycosylase gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:731074 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 | ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:28202063|PMID:28243543|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28491533|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381|PMID:28577310|PMID:28608266|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28790112|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29147111|PMID:29192238|PMID:29212164|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29610499|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754767|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29915346|PMID:29954149|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30098577|PMID:30122538|PMID:30151275|PMID:30151276|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30357411|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30666091|PMID:30675318|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30719162|PMID:30787465|PMID:30833417|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31350202|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31618753|PMID:31666926|PMID:31687339|PMID:31739127|PMID:31742824|PMID:31744909|PMID:31780696|PMID:31829624|PMID:31867841|PMID:31921681|PMID:31942411|PMID:31970404|PMID:31980526|PMID:32029870|PMID:32066632|PMID:32068069|PMID:32072083|PMID:32088803|PMID:32133419|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390558|PMID:32390703|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32720237|PMID:32761968|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32888815|PMID:32904697|PMID:32906206|PMID:32923874|PMID:32973888|PMID:32980694|PMID:32984025|PMID:33011440|PMID:33024574|PMID:33062672|PMID:33077847|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33223521|PMID:33230973|PMID:33258288|PMID:33309985|PMID:33313162|PMID:33332384|PMID:33343895|PMID:33359728|PMID:33383211|PMID:33384714|PMID:33414168|PMID:33436027|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33748650|PMID:33785725|PMID:33858029|PMID:33878367|PMID:33901219|PMID:33939675|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34404389|PMID:34426522|PMID:34428338|PMID:34506673|PMID:34598035|PMID:34621001|PMID:34659905|PMID:34680878|PMID:34687117|PMID:34704405|PMID:34716202|PMID:34775073|PMID:34816434|PMID:34897210|PMID:34981295|PMID:34994648|PMID:35089076|PMID:35098669|PMID:35205332|PMID:35238777|PMID:35264596|PMID:35273153|PMID:35430768|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35545820|PMID:35628513|PMID:35668106|PMID:35712480|PMID:35734982|PMID:35980532|PMID:36035419|PMID:36119527|PMID:36135357|PMID:36243179|PMID:36368126|PMID:36672847|PMID:36988593|PMID:37201251|PMID:517270|PMID:545764|PMID:9536098|PMID:9846876 8993860 Mutyh mutY DNA glycosylase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8993860 Mutyh mutY DNA glycosylase gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:731074 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8993860 Mutyh mutY DNA glycosylase gene DOID:10534 stomach cancer ISO RGD:731074 D RGD:7240710 20220209 OMIM 8993860 Mutyh mutY DNA glycosylase gene DOID:10534 stomach cancer ISO RGD:731074 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:11092888|PMID:11433026|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12393807|PMID:12606733|PMID:12853198|PMID:14618256|PMID:15180946|PMID:15273732|PMID:15635083|PMID:15890374|PMID:16134147|PMID:16140997|PMID:16338133|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17161978|PMID:17219385|PMID:17369389|PMID:17489848|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18172263|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18506705|PMID:18534194|PMID:18564191|PMID:18992148|PMID:19031083|PMID:19032956|PMID:19245865|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21153778|PMID:21171015|PMID:21178863|PMID:21520333|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23507534|PMID:23605219|PMID:23729658|PMID:24033266|PMID:24377541|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24733792|PMID:24799981|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25368107|PMID:25525159|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26600934|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26902849|PMID:26976419|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27631816|PMID:27797849|PMID:27829682|PMID:28127763|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28251689|PMID:28332257|PMID:28349240|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28709830|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29147111|PMID:29330641|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29915346|PMID:30067863|PMID:30093976|PMID:30122538|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30833958|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31263571|PMID:31360874|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31739127|PMID:31744909|PMID:31921681|PMID:31980526|PMID:32068069|PMID:32088803|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32665031|PMID:32761968|PMID:32821650|PMID:32830346|PMID:32868316|PMID:32888815|PMID:32904697|PMID:32906206|PMID:32973888|PMID:32984025|PMID:33024574|PMID:33062672|PMID:33077847|PMID:33193653|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:33563768|PMID:33858029|PMID:33901219|PMID:34026625|PMID:34259353|PMID:34404389|PMID:34426522|PMID:34428338|PMID:34687117|PMID:34716202|PMID:34775073|PMID:34816434|PMID:34897210|PMID:34994648|PMID:35098669|PMID:35205332|PMID:35264596|PMID:35273153|PMID:35534218|PMID:35712480|PMID:36119527|PMID:36988593|PMID:517270 8993860 Mutyh mutY DNA glycosylase gene DOID:1380 endometrial cancer ISO RGD:731074 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial cancer, somatic PMID:11818965|PMID:12606733|PMID:12917422|PMID:15036665|PMID:15635083|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25590978|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27783336|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29147111|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 8993860 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:35535697|PMID:9536098 8993860 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:11295288|PMID:11818965|PMID:12393807|PMID:12606733|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14991577|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15366000|PMID:15635083|PMID:15690400|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16774938|PMID:16929514|PMID:16941501|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19479711|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23561487|PMID:23605219|PMID:23625202|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25326637|PMID:25503501|PMID:25525159|PMID:25569433|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27705013|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28251689|PMID:28332257|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28873161|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29368341|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29667044|PMID:29700634|PMID:29766397|PMID:29879026|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31739127|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32830346|PMID:32854451|PMID:32904697|PMID:32973888|PMID:33024574|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991 8993860 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:33504652|PMID:35535697|PMID:9536098 8993860 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:11295288|PMID:11818965|PMID:12393807|PMID:12606733|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14991577|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15366000|PMID:15635083|PMID:15690400|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16774938|PMID:16929514|PMID:16941501|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19479711|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:20848659|PMID:21063410|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23625202|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25503501|PMID:25525159|PMID:25569433|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25927356|PMID:25937855|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27705013|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28251689|PMID:28332257|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28873161|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29330641|PMID:29368341|PMID:29406563|PMID:29431110|PMID:29506128|PMID:29557500|PMID:29667044|PMID:29700634|PMID:29766397|PMID:29879026|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31263571|PMID:31285513|PMID:31422818|PMID:31447099|PMID:31575519|PMID:31589614|PMID:31739127|PMID:31829624|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32830346|PMID:32854451|PMID:32904697|PMID:32973888|PMID:33024574|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384 8993860 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:34716202|PMID:34897210|PMID:35535697|PMID:35668106|PMID:9536098 8993860 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:11051386|PMID:11295288|PMID:11818965|PMID:12393807|PMID:12606733|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14991577|PMID:15036665|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15366000|PMID:15635083|PMID:15690400|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16774938|PMID:16929514|PMID:16941501|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18414213|PMID:18422726|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:18811933|PMID:19031083|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19479711|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20191381|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:20848659|PMID:21063410|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21287799|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23625202|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25503501|PMID:25525159|PMID:25569433|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25980754|PMID:26202870|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27705013|PMID:27783336|PMID:27797849|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28251689|PMID:28332257|PMID:28445943|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381|PMID:28577310|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28873161|PMID:28873162|PMID:28944238|PMID:29093764|PMID:29147111|PMID:29330641|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29478780|PMID:29506128|PMID:29557500|PMID:29625052|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30151275|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30787465|PMID:30833417|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30953464|PMID:30982232|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31263571|PMID:31285513|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31618753 8993860 Mutyh mutY DNA glycosylase gene DOID:1520 colon carcinoma ISO RGD:731074 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma PMID:31739127|PMID:31829624|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32066632|PMID:32068069|PMID:32088803|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32830346|PMID:32854451|PMID:32888815|PMID:32904697|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33024574|PMID:33062672|PMID:33077847|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33258288|PMID:33309985|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33748650|PMID:33858029|PMID:33901219|PMID:33980423|PMID:34026625|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34404389|PMID:34426522|PMID:34428338|PMID:34506673|PMID:34659905|PMID:34687117|PMID:34704405|PMID:34716202|PMID:34897210|PMID:34994648|PMID:35089076|PMID:35098669|PMID:35205332|PMID:35238777|PMID:35264596|PMID:35273153|PMID:35430768|PMID:35534218|PMID:35535697|PMID:35628513|PMID:35668106|PMID:35712480|PMID:35734982|PMID:35980532|PMID:36119527|PMID:36368126|PMID:36988593|PMID:517270|PMID:9536098 8993860 Mutyh mutY DNA glycosylase gene DOID:1612 breast cancer ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:16557584|PMID:21195604|PMID:25741868|PMID:26467025|PMID:26900293|PMID:28492532 8993860 Mutyh mutY DNA glycosylase gene DOID:219 colon cancer ISO RGD:731074 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colon cancer | ClinVar Annotator: match by term: Malignant tumor of colon PMID:11818965|PMID:12606733|PMID:12853198|PMID:12917422|PMID:15036665|PMID:15635083|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17489848|PMID:17576681|PMID:17956577|PMID:18495334|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25590978|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27783336|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28873162|PMID:28944238|PMID:29147111|PMID:29371908|PMID:29478780|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:33606809|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:34506673|PMID:35535697|PMID:35668106|PMID:9536098 8993860 Mutyh mutY DNA glycosylase gene DOID:2394 ovarian cancer ISO RGD:731074 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:15236166|PMID:16042573|PMID:16890597|PMID:18091433|PMID:18301448|PMID:19279422|PMID:20618354|PMID:20848659|PMID:21195604|PMID:23322991|PMID:25741868|PMID:25820570|PMID:28492532|PMID:34704405 8993860 Mutyh mutY DNA glycosylase gene DOID:2871 endometrial carcinoma ISO RGD:731074 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11818965|PMID:12606733|PMID:16140997|PMID:16338133|PMID:16492921|PMID:16557584|PMID:16616356|PMID:17489848|PMID:17956577|PMID:18414213|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19300419|PMID:19394335|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20571908|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:22266422|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23605219|PMID:24033266|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24733792|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26467025|PMID:26517685|PMID:26556299|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27631816|PMID:27797849|PMID:27829682|PMID:28492532|PMID:28503720|PMID:28709830|PMID:28944238|PMID:29147111|PMID:29506128|PMID:29557500|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30676620|PMID:30833417|PMID:30877237|PMID:30953464|PMID:31159747|PMID:31263571|PMID:31447099|PMID:31589614|PMID:31921681|PMID:31980526|PMID:32088803|PMID:32283892|PMID:32338768|PMID:32615015|PMID:32830346|PMID:33193653|PMID:33258288|PMID:33332384|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34026625|PMID:34259353|PMID:34426522 8993860 Mutyh mutY DNA glycosylase gene DOID:3459 breast carcinoma ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:11818965|PMID:12606733|PMID:15931596|PMID:15987719|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16941501|PMID:17081686|PMID:17219385|PMID:17489848|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20725929|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22252118|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26332594|PMID:26377631|PMID:26446593|PMID:26467025|PMID:26556299|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27829682|PMID:27870730|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28944238|PMID:29406563|PMID:29766397|PMID:30604180 8993860 Mutyh mutY DNA glycosylase gene DOID:3459 breast carcinoma ISO RGD:731074 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:11818965|PMID:12606733|PMID:12917422|PMID:15036665|PMID:15635083|PMID:15931596|PMID:15987719|PMID:16134147|PMID:16140997|PMID:16287072|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16941501|PMID:17081686|PMID:17219385|PMID:17489848|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22252118|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25525159|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26332594|PMID:26377631|PMID:26446593|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27783336|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28551381|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29147111|PMID:29371908|PMID:29406563|PMID:29625052|PMID:29766397|PMID:29785153|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30787465|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31589614|PMID:31618753|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32658311|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33130102|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:33980423|PMID:34259353|PMID:34271781|PMID:34308366|PMID:34347074|PMID:34426522|PMID:34704405|PMID:35089076|PMID:35238777|PMID:35535697|PMID:35734982|PMID:36368126|PMID:36988593 8993860 Mutyh mutY DNA glycosylase gene DOID:4001 ovarian carcinoma ISO RGD:731074 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:11818965|PMID:12606733|PMID:12917422|PMID:15036665|PMID:15635083|PMID:15931596|PMID:15987719|PMID:16492921|PMID:16557584|PMID:17489848|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25590978|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27783336|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29147111|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697 8993860 Mutyh mutY DNA glycosylase gene DOID:5374 pilomatrixoma ISO RGD:731074 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma PMID:11801590|PMID:11818965|PMID:12606733|PMID:12917422|PMID:15036665|PMID:15236166|PMID:15635083|PMID:15673720|PMID:15931596|PMID:15987719|PMID:16042573|PMID:16134147|PMID:16287072|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16890597|PMID:17081686|PMID:17489848|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18301448|PMID:18534194|PMID:186631|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20687945|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24733792|PMID:24953332|PMID:25186627|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26332594|PMID:26377631|PMID:26446593|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27783336|PMID:27829682|PMID:27870730|PMID:28087410|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28551381|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29147111|PMID:29371908|PMID:29406563|PMID:29625052|PMID:29766397|PMID:29785153|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30787465|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31589614|PMID:31618753|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33130102|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33471991|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:34598035|PMID:34704405|PMID:35264596|PMID:35535697 8993860 Mutyh mutY DNA glycosylase gene DOID:5517 stomach carcinoma ISO RGD:731074 D RGD:9068941 20200609 RGD PMID:15273732|REF_RGD_ID:1600201 8993860 Mutyh mutY DNA glycosylase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8993860 Mutyh mutY DNA glycosylase gene DOID:630 genetic disease ISO RGD:731074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8993860 Mutyh mutY DNA glycosylase gene DOID:687 hepatoblastoma ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 8993860 Mutyh mutY DNA glycosylase gene DOID:768 retinoblastoma ISO RGD:731074 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:25741868|PMID:26467025|PMID:26947005|PMID:28135145|PMID:28492532|PMID:30267214|PMID:33471991|PMID:34326862 8993860 Mutyh mutY DNA glycosylase gene DOID:9000217 Stomach Neoplasms ISO RGD:731074 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stomach Neoplasms PMID:11818965|PMID:12606733|PMID:12917422|PMID:15036665|PMID:15635083|PMID:15931596|PMID:15987719|PMID:16134147|PMID:16287072|PMID:16455870|PMID:16492921|PMID:16557584|PMID:17081686|PMID:17489848|PMID:17949294|PMID:17956577|PMID:18534194|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22926731|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25590978|PMID:25741868|PMID:25820570|PMID:25980754|PMID:26202870|PMID:26332594|PMID:26446593|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27783336|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28551381|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29147111|PMID:29371908|PMID:29406563|PMID:29625052|PMID:29766397|PMID:29785153|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30787465|PMID:30833417|PMID:30877237|PMID:31159747|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31589614|PMID:31618753|PMID:31942411|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33130102|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:34704405|PMID:35535697 8993860 Mutyh mutY DNA glycosylase gene DOID:9002928 Colonic Neoplasms ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colonic neoplasm PMID:16890597|PMID:19394335|PMID:19732775|PMID:20618354|PMID:20628285|PMID:21520333|PMID:25741868|PMID:26446593|PMID:27829682|PMID:28492532 8993860 Mutyh mutY DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731074 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28577310|PMID:28608266|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28790112|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29192238|PMID:29212164|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29610499|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29915346|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30098577|PMID:30122538|PMID:30151275|PMID:30151276|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30357411|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30666091|PMID:30675318|PMID:30676620|PMID:30702970|PMID:30719162|PMID:30833417|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31350202|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31613886|PMID:31618753|PMID:31666926|PMID:31687339|PMID:31739127|PMID:31742824|PMID:31780696|PMID:31829624|PMID:31867841|PMID:31921681|PMID:31942411|PMID:31970404|PMID:31980526|PMID:32068069|PMID:32072083|PMID:32088803|PMID:32133419|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390558|PMID:32390703|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32904697|PMID:32973888|PMID:32980694|PMID:33011440|PMID:33024574|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33223521|PMID:33258288|PMID:33309985|PMID:33313162|PMID:33332384|PMID:33343895|PMID:33383211|PMID:33384714|PMID:33414168|PMID:33436027|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33606809|PMID:33785725|PMID:33878367|PMID:33939675|PMID:34034685|PMID:34259353|PMID:34271781|PMID:34285288|PMID:34308366|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34621001|PMID:34704405|PMID:34716202|PMID:34816434|PMID:34897210|PMID:34994648|PMID:35089076|PMID:35264596|PMID:35430768|PMID:35535697|PMID:35628513|PMID:35668106|PMID:35980532|PMID:36988593|PMID:9536098|PMID:9846876 8993860 Mutyh mutY DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731074 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10612827|PMID:10713439|PMID:11051386|PMID:11092888|PMID:11295288|PMID:11433026|PMID:11801590|PMID:11805113|PMID:11818965|PMID:11864576|PMID:12056405|PMID:12393807|PMID:12606733|PMID:12707038|PMID:12853198|PMID:12917422|PMID:14579148|PMID:14618256|PMID:14633673|PMID:14991577|PMID:15034862|PMID:15036665|PMID:15180946|PMID:15188161|PMID:15236166|PMID:15326180|PMID:15366000|PMID:15465463|PMID:15635083|PMID:15673720|PMID:15681617|PMID:15690400|PMID:15761860|PMID:15890374|PMID:15931596|PMID:15943555|PMID:15987719|PMID:16042573|PMID:16134146|PMID:16134147|PMID:16140997|PMID:16199547|PMID:16207212|PMID:16234049|PMID:16287072|PMID:16338133|PMID:16408224|PMID:16455870|PMID:16492921|PMID:16557584|PMID:16616356|PMID:16645203|PMID:166460|PMID:16774938|PMID:16890597|PMID:16929514|PMID:16941501|PMID:16996809|PMID:17031395|PMID:17081686|PMID:17122612|PMID:17161978|PMID:17207658|PMID:17219385|PMID:17252231|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17524638|PMID:17576681|PMID:17581577|PMID:17674103|PMID:17703316|PMID:17874208|PMID:17931073|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18172263|PMID:18271935|PMID:18294051|PMID:18301448|PMID:18414213|PMID:18422726|PMID:18433509|PMID:18495334|PMID:18506705|PMID:18515411|PMID:18534194|PMID:18564191|PMID:186631|PMID:18811933|PMID:18992148|PMID:19031083|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19300419|PMID:19394335|PMID:19414147|PMID:19443904|PMID:19479711|PMID:19506731|PMID:19527492|PMID:19531215|PMID:19620482|PMID:19725997|PMID:19732775|PMID:19793053|PMID:19806110|PMID:19836313|PMID:19841264|PMID:19953527|PMID:19998059|PMID:20110747|PMID:20149637|PMID:20191381|PMID:20223003|PMID:20418187|PMID:20571908|PMID:20618354|PMID:20628285|PMID:20663686|PMID:20687945|PMID:20725929|PMID:20816984|PMID:2084865|PMID:20848659|PMID:21061173|PMID:21063410|PMID:21078199|PMID:21153778|PMID:21167187|PMID:21171015|PMID:21178863|PMID:21195604|PMID:21235684|PMID:21287799|PMID:21424714|PMID:21443744|PMID:21520333|PMID:21777424|PMID:21815886|PMID:21901162|PMID:21952991|PMID:22158503|PMID:22252118|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22538434|PMID:22641385|PMID:22703879|PMID:22722201|PMID:22744763|PMID:22773231|PMID:22865608|PMID:22922830|PMID:22926731|PMID:22976915|PMID:23007840|PMID:23035301|PMID:23108399|PMID:23322991|PMID:23361220|PMID:23383274|PMID:23460355|PMID:23507534|PMID:23561487|PMID:23599153|PMID:23605219|PMID:23621914|PMID:23625202|PMID:23729658|PMID:23805267|PMID:23820649|PMID:24033266|PMID:24039736|PMID:24082139|PMID:24278394|PMID:24377541|PMID:24444654|PMID:24470512|PMID:24556621|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24799981|PMID:24834277|PMID:24953332|PMID:25151137|PMID:25186627|PMID:25197429|PMID:25307848|PMID:25318351|PMID:25326637|PMID:25368107|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25590978|PMID:25637381|PMID:25741868|PMID:25820570|PMID:25856671|PMID:25892863|PMID:25927356|PMID:25937855|PMID:25938944|PMID:25957691|PMID:25980754|PMID:25995449|PMID:26138249|PMID:26202870|PMID:26269718|PMID:26296696|PMID:26300997|PMID:26332594|PMID:26377631|PMID:26436112|PMID:26446593|PMID:26467025|PMID:26511139|PMID:26517685|PMID:26556299|PMID:26580448|PMID:26600934|PMID:26615199|PMID:26632267|PMID:26673696|PMID:26681312|PMID:26684149|PMID:26684191|PMID:26689913|PMID:26694661|PMID:26822237|PMID:26824983|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26900293|PMID:26902849|PMID:26944241|PMID:26947005|PMID:26976419|PMID:27014339|PMID:27077130|PMID:27145315|PMID:27153395|PMID:27194394|PMID:27276934|PMID:27347161|PMID:27377421|PMID:27443514|PMID:27600092|PMID:27631816|PMID:27696107|PMID:27705013|PMID:27720647|PMID:27732944|PMID:27783336|PMID:27797849|PMID:27799157|PMID:27829682|PMID:27870730|PMID:27878467|PMID:27978560|PMID:28087410|PMID:28127763|PMID:28130451|PMID:28135048|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28199314|PMID:28202063|PMID:28243543|PMID:28251689|PMID:28332257 8993860 Mutyh mutY DNA glycosylase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731074 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28349240|PMID:28445943|PMID:28491533|PMID:28492532|PMID:28495237|PMID:28502729|PMID:28503720|PMID:28526081|PMID:28533537|PMID:28551381|PMID:28577310|PMID:28608266|PMID:28634180|PMID:28644590|PMID:28687356|PMID:28709830|PMID:28717660|PMID:28726808|PMID:28790112|PMID:28861346|PMID:28873161|PMID:28873162|PMID:28944238|PMID:28961279|PMID:29093764|PMID:29147111|PMID:29192238|PMID:29212164|PMID:29330641|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29406563|PMID:29431110|PMID:29458332|PMID:29478780|PMID:29484706|PMID:29506128|PMID:29557500|PMID:29610499|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754767|PMID:29766397|PMID:29785153|PMID:29879026|PMID:29915346|PMID:29954149|PMID:29967336|PMID:29978187|PMID:30067863|PMID:30093976|PMID:30098577|PMID:30122538|PMID:30151275|PMID:30151276|PMID:30256826|PMID:30267214|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30357411|PMID:30374176|PMID:30487145|PMID:30564557|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30613976|PMID:30620386|PMID:30666091|PMID:30675318|PMID:30676620|PMID:30680046|PMID:30702970|PMID:30719162|PMID:30787465|PMID:30833417|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30852976|PMID:30877237|PMID:30886832|PMID:30927264|PMID:30953464|PMID:30982232|PMID:31062380|PMID:31090900|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31214250|PMID:31220976|PMID:31263571|PMID:31273614|PMID:31277343|PMID:31285513|PMID:31350202|PMID:31360874|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31512090|PMID:31575519|PMID:31589614|PMID:31613886|PMID:31618753|PMID:31666926|PMID:31687339|PMID:31739127|PMID:31742824|PMID:31744909|PMID:31780696|PMID:31829624|PMID:31867841|PMID:31921681|PMID:31942411|PMID:31970404|PMID:31980526|PMID:32066632|PMID:32068069|PMID:32072083|PMID:32088803|PMID:32133419|PMID:32231684|PMID:32255556|PMID:32283892|PMID:32338768|PMID:32390558|PMID:32390703|PMID:32570879|PMID:32615015|PMID:32658311|PMID:32665031|PMID:32720237|PMID:32761968|PMID:32782288|PMID:32821650|PMID:32830346|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32888815|PMID:32904697|PMID:32906206|PMID:32923874|PMID:32973888|PMID:32980694|PMID:32984025|PMID:33011440|PMID:33024574|PMID:33062672|PMID:33077847|PMID:33087929|PMID:33094510|PMID:33130102|PMID:33134171|PMID:33193653|PMID:33194656|PMID:33223521|PMID:33230973|PMID:33258288|PMID:33309985|PMID:33313162|PMID:33332384|PMID:33343895|PMID:33359728|PMID:33383211|PMID:33384714|PMID:33414168|PMID:33436027|PMID:33442023|PMID:33471974|PMID:33471991|PMID:33504652|PMID:33553733|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33748650|PMID:33785725|PMID:33858029|PMID:33878367|PMID:33901219|PMID:33939675|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34250417|PMID:34259353|PMID:34271781|PMID:34285288|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34404389|PMID:34426522|PMID:34428338|PMID:34506673|PMID:34598035|PMID:34621001|PMID:34659905|PMID:34680878|PMID:34687117|PMID:34704405|PMID:34716202|PMID:34775073|PMID:34816434|PMID:34897210|PMID:34981295|PMID:34994648|PMID:35089076|PMID:35098669|PMID:35205332|PMID:35238777|PMID:35264596|PMID:35273153|PMID:35430768|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35545820|PMID:35628513|PMID:35668106|PMID:35712480|PMID:35734982|PMID:35980532|PMID:36035419|PMID:36119527|PMID:36135357|PMID:36243179|PMID:36368126|PMID:36672847|PMID:36988593|PMID:37201251|PMID:517270|PMID:545764|PMID:9536098|PMID:9846876 8993860 Mutyh mutY DNA glycosylase gene DOID:9008952 Breast Cancer, Familial ISO RGD:731074 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16287072|PMID:18091433|PMID:19953527|PMID:20418187|PMID:22252118|PMID:24033266|PMID:25186627|PMID:25307848|PMID:25503501|PMID:25741868|PMID:25820570|PMID:27829682|PMID:28492532|PMID:32658311|PMID:33471991|PMID:34250417 8993860 Mutyh mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:11818965|PMID:12393807|PMID:12606733|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27705013|PMID:27829682|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28944238|PMID:29330641|PMID:29766397|PMID:29915346|PMID:30487145|PMID:30604180|PMID:31104418|PMID:31203172|PMID:31739127|PMID:32665031|PMID:32821650 8993860 Mutyh mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27705013|PMID:27829682|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28687356|PMID:28944238|PMID:29330641|PMID:29766397|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30604180|PMID:30609409|PMID:30676620|PMID:31104418|PMID:31203172|PMID:31263571|PMID:31739127|PMID:32665031|PMID:32821650 8993860 Mutyh mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:12917422|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27705013|PMID:27829682|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28492532|PMID:28634180|PMID:28687356|PMID:28944238|PMID:29330641|PMID:29766397|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30604180|PMID:30609409|PMID:30676620|PMID:31104418|PMID:31203172|PMID:31263571|PMID:31739127|PMID:32665031|PMID:32821650|PMID:35535697 8993860 Mutyh mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:12917422|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25525159|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27705013|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29330641|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31739127|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32665031|PMID:32821650|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:35535697|PMID:36988593 8993860 Mutyh mutY DNA glycosylase gene DOID:9256 colorectal cancer ISO RGD:731074 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:11818965|PMID:12393807|PMID:12606733|PMID:12917422|PMID:15036665|PMID:15635083|PMID:15890374|PMID:15931596|PMID:15987719|PMID:16140997|PMID:16492921|PMID:16557584|PMID:17219385|PMID:17273161|PMID:17368238|PMID:17369389|PMID:17489848|PMID:17703316|PMID:17949294|PMID:17956577|PMID:18091433|PMID:18506705|PMID:18534194|PMID:18564191|PMID:19032956|PMID:19245865|PMID:19279422|PMID:19394335|PMID:19506731|PMID:19531215|PMID:19620482|PMID:19732775|PMID:19793053|PMID:19836313|PMID:19953527|PMID:19998059|PMID:20418187|PMID:20618354|PMID:20663686|PMID:20848659|PMID:21063410|PMID:21171015|PMID:21178863|PMID:21815886|PMID:21952991|PMID:22158503|PMID:22266422|PMID:22297469|PMID:22402879|PMID:22473953|PMID:22703879|PMID:22744763|PMID:22865608|PMID:22926731|PMID:22976915|PMID:23035301|PMID:23108399|PMID:23361220|PMID:23507534|PMID:23561487|PMID:23625202|PMID:23805267|PMID:24033266|PMID:24082139|PMID:24278394|PMID:24444654|PMID:24569162|PMID:24691292|PMID:24728327|PMID:24953332|PMID:25186627|PMID:25525159|PMID:25590978|PMID:25741868|PMID:25820570|PMID:26202870|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27014339|PMID:27153395|PMID:27705013|PMID:27783336|PMID:27829682|PMID:27870730|PMID:28127763|PMID:28135145|PMID:28141798|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28577310|PMID:28634180|PMID:28687356|PMID:28709830|PMID:28944238|PMID:29147111|PMID:29330641|PMID:29371908|PMID:29766397|PMID:29785153|PMID:29915346|PMID:29978187|PMID:30067863|PMID:30256826|PMID:30291343|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30487145|PMID:30582135|PMID:30604180|PMID:30609409|PMID:30620386|PMID:30676620|PMID:30702970|PMID:30833417|PMID:30877237|PMID:31104418|PMID:31159747|PMID:31203172|PMID:31263571|PMID:31285513|PMID:31447099|PMID:31512090|PMID:31618753|PMID:31739127|PMID:31980526|PMID:32088803|PMID:32231684|PMID:32338768|PMID:32570879|PMID:32665031|PMID:32821650|PMID:32830346|PMID:32854451|PMID:33087929|PMID:33258288|PMID:33384714|PMID:33442023|PMID:33504652|PMID:33748650|PMID:34026625|PMID:34259353|PMID:34308366|PMID:34347074|PMID:34426522|PMID:34775073|PMID:35535697|PMID:35668106|PMID:36988593 8993911 LOC102030342 cytochrome b561 domain-containing protein 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1321956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 8993911 LOC102030342 cytochrome b561 domain-containing protein 1 gene DOID:12849 autistic disorder ISO RGD:1321956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8993911 LOC102030342 cytochrome b561 domain-containing protein 1 gene DOID:630 genetic disease ISO RGD:1321956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993927 Gid4 GID complex subunit 4 homolog gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1322085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 8993927 Gid4 GID complex subunit 4 homolog gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1322085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 8993927 Gid4 GID complex subunit 4 homolog gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1322085 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 8993927 Gid4 GID complex subunit 4 homolog gene DOID:0110980 Joubert syndrome 1 ISO RGD:1322085 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8993927 Gid4 GID complex subunit 4 homolog gene DOID:12849 autistic disorder ISO RGD:1322085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8993927 Gid4 GID complex subunit 4 homolog gene DOID:630 genetic disease ISO RGD:1322085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993938 Bahcc1 BAH domain and coiled-coil containing 1 gene DOID:630 genetic disease ISO RGD:1606249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993993 Slc23a2 solute carrier family 23 member 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1353786 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8993993 Slc23a2 solute carrier family 23 member 2 gene DOID:13580 cholestasis ISO RGD:1353786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18706437 8993993 Slc23a2 solute carrier family 23 member 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1353786 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8993993 Slc23a2 solute carrier family 23 member 2 gene DOID:630 genetic disease ISO RGD:1353786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8993993 Slc23a2 solute carrier family 23 member 2 gene DOID:9006302 Binge Drinking ISO RGD:619876 D RGD:9068941 20200609 RGD PMID:27085842|REF_RGD_ID:26884454 8994019 Nr1d2 nuclear receptor subfamily 1 group D member 2 gene DOID:0050651 atrioventricular septal defect ISO RGD:737421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AVC DEFECT PMID:27058611 8994019 Nr1d2 nuclear receptor subfamily 1 group D member 2 gene DOID:289 endometriosis ISO RGD:737421 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 8994019 Nr1d2 nuclear receptor subfamily 1 group D member 2 gene DOID:630 genetic disease ISO RGD:737421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0050561 Lennox-Gastaut syndrome ISO RGD:735595 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:735595 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:0081118 benign familial infantile seizures 5 ISO RGD:735595 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:10283 prostate cancer ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1059 intellectual disability ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23596459|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1059 intellectual disability ISO RGD:735595 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23596459|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:11832 visual epilepsy ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:16235065|PMID:17765802|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23596459|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29852413|PMID:31440727 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:12849 autistic disorder ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:23020937|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:14264 benign neonatal seizures ISO RGD:735595 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Benign Neonatal Epilepsy | ClinVar Annotator: match by term: Benign neonatal seizures PMID:14534157|PMID:16199547|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25640679|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:27888506|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29383681|PMID:29655203|PMID:29778030|PMID:29808309|PMID:29852413|PMID:30348901|PMID:30578330|PMID:31177578|PMID:31238879|PMID:31440727|PMID:31785789|PMID:31981491|PMID:32086284|PMID:32613771|PMID:33004838|PMID:33149276|PMID:34356170|PMID:9425900|PMID:9536098 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:735595 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Benign familial neonatal seizures PMID:18249525|PMID:18625963|PMID:23020937|PMID:23146207|PMID:23934111|PMID:24375629|PMID:25052858|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1826 epilepsy ISO RGD:735595 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:1826 epilepsy ISO RGD:735595 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:29383681|PMID:29852413|PMID:31440727 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:18625963|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:630 genetic disease ISO RGD:735595 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14534157|PMID:16235065|PMID:17576681|PMID:17765802|PMID:18354422|PMID:18625963|PMID:19167866|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25194482|PMID:25740509|PMID:25741868|PMID:26467025|PMID:28135719|PMID:28492532|PMID:29358611|PMID:29778030|PMID:29808309|PMID:30348901|PMID:30578330|PMID:32086284|PMID:33004838|PMID:9536098 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9002211 Hyperalgesia ISO RGD:69222 D RGD:9068941 20200609 RGD associated with Bone Neoplasms;protein:decreased expression:dorsal root ganglia (rat) PMID:23352759|REF_RGD_ID:9686417 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:735595 D RGD:7240710 20180130 OMIM 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9003109 Benign Familial Neonatal Seizures, 2 ISO RGD:735595 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 PMID:10852552|PMID:14534157|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18354422|PMID:18425618|PMID:1859177|PMID:18625963|PMID:19167866|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:27888506|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:31785789|PMID:32086284|PMID:33004838|PMID:34356170|PMID:9425900|PMID:9536098 8994030 Kcnq3 potassium voltage-gated channel subfamily Q member 3 gene DOID:9008582 Developmental Disease ISO RGD:735595 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8994049 Sirt4 sirtuin 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1310413 D RGD:9068941 20200609 RGD PMID:20651844|REF_RGD_ID:9586052 8994049 Sirt4 sirtuin 4 gene DOID:12932 endomyocardial fibrosis ISO RGD:1321303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27099261 8994049 Sirt4 sirtuin 4 gene DOID:630 genetic disease ISO RGD:1321303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994049 Sirt4 sirtuin 4 gene DOID:9001981 Weight Loss ISO RGD:1321303 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:35134463 8994049 Sirt4 sirtuin 4 gene DOID:9003936 Cardiomegaly ISO RGD:1321303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27099261 8994049 Sirt4 sirtuin 4 gene DOID:9007692 Insulin Resistance ISO RGD:1310413 D RGD:9068941 20200609 RGD PMID:20651844|REF_RGD_ID:9586052 8994061 Rps11 ribosomal protein S11 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:733888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 8994061 Rps11 ribosomal protein S11 gene DOID:630 genetic disease ISO RGD:733888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994071 Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1321949 D RGD:9068941 20220825 MouseDO 8994071 Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1321948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:28492532 8994071 Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:630 genetic disease ISO RGD:1321948 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994071 Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 8994071 Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1321948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal PMID:12447384|PMID:18579681|PMID:28492532 8994134 Tg thyroglobulin gene DOID:0050328 congenital hypothyroidism ISO RGD:735819 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:10404833|PMID:11484898|PMID:14764776|PMID:15769978|PMID:16199547|PMID:16403815|PMID:16720658|PMID:17532758|PMID:19837936|PMID:20410234|PMID:21128992|PMID:21372558|PMID:23164529|PMID:23457313|PMID:25741868|PMID:2584351|PMID:28444304|PMID:28492532|PMID:33692749|PMID:34248839|PMID:7593451|PMID:8325944|PMID:9588493 8994134 Tg thyroglobulin gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:735819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:12872253|PMID:23996628|PMID:28492532 8994134 Tg thyroglobulin gene DOID:0060870 isolated growth hormone deficiency ISO RGD:3848 D RGD:9068941 20200609 RGD PMID:11089535|PMID:3366187|REF_RGD_ID:12880373|REF_RGD_ID:730133 8994134 Tg thyroglobulin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease sexual_dimorphism ISO RGD:735819 D RGD:9068941 20240229 RGD PMID:30016121|REF_RGD_ID:401976499 8994134 Tg thyroglobulin gene DOID:0112183 familial thyroid dyshormonogenesis ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 8994134 Tg thyroglobulin gene DOID:0112187 thyroid dyshormonogenesis 3 ISO RGD:735819 D RGD:7240710 20240320 OMIM 8994134 Tg thyroglobulin gene DOID:0112187 thyroid dyshormonogenesis 3 ISO RGD:735819 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 PMID:10199792|PMID:10403171|PMID:10404833|PMID:11484898|PMID:12915634|PMID:14657345|PMID:14764776|PMID:15579800|PMID:15611820|PMID:15769978|PMID:16187910|PMID:16187918|PMID:16199547|PMID:16403815|PMID:16477365|PMID:16720658|PMID:17033963|PMID:17244789|PMID:1752952|PMID:19339519|PMID:19438905|PMID:19837936|PMID:20089614|PMID:20410234|PMID:20447071|PMID:20981092|PMID:21128992|PMID:21372558|PMID:21900383|PMID:21958696|PMID:23035660|PMID:23164529|PMID:23455760|PMID:23457309|PMID:23457313|PMID:23535966|PMID:23933148|PMID:24033266|PMID:25741868|PMID:2584351|PMID:26385851|PMID:26595189|PMID:26742565|PMID:26777470|PMID:26813946|PMID:27373559|PMID:27498126|PMID:27525530|PMID:28444304|PMID:28492532|PMID:29590070|PMID:29720101|PMID:30022773|PMID:31042289|PMID:31287502|PMID:31867598|PMID:31980526|PMID:33692749|PMID:34248839|PMID:34456971|PMID:34484748|PMID:34780050|PMID:36012511|PMID:7593451|PMID:8094490|PMID:8325944|PMID:9588493 8994134 Tg thyroglobulin gene DOID:10283 prostate cancer ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8994134 Tg thyroglobulin gene DOID:12176 goiter ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24582622|PMID:8094490 8994134 Tg thyroglobulin gene DOID:12176 goiter susceptibility ISO RGD:735819 D RGD:9068941 20200609 RGD associated with Hypothyroidism;DNA:deletion:exon PMID:1752952|REF_RGD_ID:1600141 8994134 Tg thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:9068941 20200609 RGD PMID:14636875|REF_RGD_ID:8548606 8994134 Tg thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human) PMID:22662162|REF_RGD_ID:8548643 8994134 Tg thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:95586|REF_RGD_ID:8548645 8994134 Tg thyroglobulin gene DOID:12361 Graves' disease ISO RGD:735819 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 8994134 Tg thyroglobulin gene DOID:12361 Graves' disease no_association ISO RGD:735819 D RGD:9068941 20200609 RGD DNA:SNPs:exon:multiple PMID:18656705|REF_RGD_ID:8548630 8994134 Tg thyroglobulin gene DOID:12361 Graves' disease treatment ISO RGD:735819 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:17550957|REF_RGD_ID:8548644 8994134 Tg thyroglobulin gene DOID:14018 alcoholic liver cirrhosis ISO RGD:735819 D RGD:9068941 20240229 RGD PMID:6883738|REF_RGD_ID:401976502 8994134 Tg thyroglobulin gene DOID:14264 benign neonatal seizures ISO RGD:735819 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532|PMID:29383681|PMID:29852413 8994134 Tg thyroglobulin gene DOID:1459 hypothyroidism ISO RGD:735819 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:25741868 8994134 Tg thyroglobulin gene DOID:1459 hypothyroidism treatment ISO RGD:3848 D RGD:9068941 20211001 RGD PMID:16365524|REF_RGD_ID:150429798 8994134 Tg thyroglobulin gene DOID:1596 depressive disorder ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 8994134 Tg thyroglobulin gene DOID:2030 anxiety disorder ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 8994134 Tg thyroglobulin gene DOID:417 autoimmune disease ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869686 8994134 Tg thyroglobulin gene DOID:5426 primary ovarian insufficiency ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:16187910|PMID:28492532|PMID:31042289|PMID:8094490 8994134 Tg thyroglobulin gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 8994134 Tg thyroglobulin gene DOID:630 genetic disease ISO RGD:735819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8994134 Tg thyroglobulin gene DOID:7188 autoimmune thyroiditis ISO RGD:735819 D RGD:7240710 20240320 OMIM 8994134 Tg thyroglobulin gene DOID:7188 autoimmune thyroiditis ISO RGD:735819 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:10403171|PMID:10404833|PMID:11484898|PMID:12915634|PMID:14657345|PMID:14764776|PMID:15579800|PMID:15769978|PMID:16477365|PMID:19339519|PMID:19438905|PMID:19837936|PMID:20089614|PMID:20410234|PMID:21128992|PMID:21372558|PMID:21757724|PMID:23035660|PMID:23164529|PMID:23535966|PMID:24033266|PMID:25741868|PMID:28444304|PMID:28492532|PMID:28942902|PMID:29590070|PMID:33692749|PMID:34248839|PMID:34484748|PMID:34780050|PMID:8325944|PMID:9588493 8994134 Tg thyroglobulin gene DOID:9005809 Thyroid Nodule treatment ISO RGD:735819 D RGD:9068941 20240229 RGD PMID:15704609|REF_RGD_ID:401976497 8994134 Tg thyroglobulin gene DOID:9006101 Primary Ovarian Failure ISO RGD:735819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:16187910|PMID:28492532|PMID:31042289|PMID:8094490 8994134 Tg thyroglobulin gene DOID:9006205 Animal Disease Models ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 8994134 Tg thyroglobulin gene DOID:9007355 Hashimoto Disease ISO RGD:3848 D RGD:9068941 20200609 RGD PMID:3052944|REF_RGD_ID:8548647 8994134 Tg thyroglobulin gene DOID:9007355 Hashimoto Disease ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30373627 8994134 Tg thyroglobulin gene DOID:9007355 Hashimoto Disease ISO RGD:735819 D RGD:9068941 20200609 RGD PMID:14636875|PMID:21559421|REF_RGD_ID:8548606|REF_RGD_ID:8548607 8994134 Tg thyroglobulin gene DOID:9007355 Hashimoto Disease no_association ISO RGD:735819 D RGD:9068941 20200609 RGD DNA:SNPs:exon:multiple PMID:18656705|REF_RGD_ID:8548630 8994134 Tg thyroglobulin gene DOID:9007661 Dwarfism ISO RGD:3848 D RGD:9068941 20201211 RGD PMID:10760744|REF_RGD_ID:13605608 8994134 Tg thyroglobulin gene DOID:9007661 Dwarfism ISO RGD:735819 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24582622 8994134 Tg thyroglobulin gene DOID:9007661 Dwarfism treatment ISO RGD:3848 D RGD:9068941 20211001 RGD PMID:16365524|REF_RGD_ID:150429798 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0060194 juvenile amyotrophic lateral sclerosis 2 ISO RGD:1321241 D RGD:7240710 20180130 OMIM 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0060194 juvenile amyotrophic lateral sclerosis 2 ISO RGD:1321241 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2 PMID:11586297|PMID:11586298|PMID:14676054|PMID:16240357|PMID:16321985|PMID:17576681|PMID:18852346|PMID:20077034|PMID:2328408|PMID:23881933|PMID:24315819|PMID:24562058|PMID:25174650|PMID:25558820|PMID:25588603|PMID:25741868|PMID:26257771|PMID:26467025|PMID:27159321|PMID:27790088|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28832565|PMID:29525178|PMID:29605155|PMID:30054184|PMID:30224357|PMID:31182772|PMID:32214227|PMID:32397312|PMID:32579787|PMID:33770234|PMID:34670123|PMID:7920663|PMID:9536098 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:11586298|PMID:22152675|PMID:24315819|PMID:28492532 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:10907 microcephaly ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321241 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14676054|PMID:17576681|PMID:18852346|PMID:20077034|PMID:23881933|PMID:25174650|PMID:25363768|PMID:25558820|PMID:25741868|PMID:26257771|PMID:26467025|PMID:27790088|PMID:28407358|PMID:28430856|PMID:28492532|PMID:28714951|PMID:28832565|PMID:29525178|PMID:31182772|PMID:32397312|PMID:33770234|PMID:34011629|PMID:34670123|PMID:9536098 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:11586298|PMID:16199547|PMID:24315819|PMID:25741868|PMID:28492532|PMID:28832565 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:332 amyotrophic lateral sclerosis susceptibility ISO RGD:1321241 D RGD:9068941 20200609 RGD PMID:11586297|REF_RGD_ID:1599080 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:630 genetic disease ISO RGD:1321241 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11586298|PMID:23881933|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:28492532 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:7319 axonal neuropathy ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral axonal neuropathy PMID:25741868|PMID:26467025|PMID:28492532 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1321241 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:11586297|PMID:11586298|PMID:14676054|PMID:16240357|PMID:16321985|PMID:17576681|PMID:18852346|PMID:20077034|PMID:2328408|PMID:23881933|PMID:24315819|PMID:24562058|PMID:25174650|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27159321|PMID:27790088|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28832565|PMID:29525178|PMID:29605155|PMID:30054184|PMID:30224357|PMID:31182772|PMID:32214227|PMID:32397312|PMID:32579787|PMID:33770234|PMID:34670123|PMID:7920663|PMID:9536098 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9004896 Primary Lateral Sclerosis Juvenile ISO RGD:1321241 D RGD:7240710 20180130 OMIM 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9004896 Primary Lateral Sclerosis Juvenile ISO RGD:1321241 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Juvenile primary lateral sclerosis | ClinVar Annotator: match by term: PLS juvenile PMID:11586297|PMID:11586298|PMID:14676054|PMID:16240357|PMID:19122027|PMID:23881933|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:27601211|PMID:28430856|PMID:28492532|PMID:29525178|PMID:31182772|PMID:32214227|PMID:32397312|PMID:33770234|PMID:34670123 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:1321241 D RGD:7240710 20180130 OMIM 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9005843 Hereditary Spastic Paralysis, Infantile Onset Ascending ISO RGD:1321241 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending PMID:11586297|PMID:11586298|PMID:12145748|PMID:12509863|PMID:12919135|PMID:14676054|PMID:16199547|PMID:16718699|PMID:17576681|PMID:18523452|PMID:18852346|PMID:20077034|PMID:22152675|PMID:23881933|PMID:24315819|PMID:24562058|PMID:25174650|PMID:25302125|PMID:25363768|PMID:25558820|PMID:25588603|PMID:25741868|PMID:26257771|PMID:26467025|PMID:26742954|PMID:27159321|PMID:27601211|PMID:27790088|PMID:28160950|PMID:28407358|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28709720|PMID:28714951|PMID:28832565|PMID:29525178|PMID:29605155|PMID:30054184|PMID:30128655|PMID:30224357|PMID:30581417|PMID:31130284|PMID:31182772|PMID:31405128|PMID:32214227|PMID:32397312|PMID:32579787|PMID:33409823|PMID:33589474|PMID:33770234|PMID:34011629|PMID:34670123|PMID:9536098 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1321241 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9008086 Developmental Disabilities ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9009017 Amyotrophic Lateral Sclerosis, Autosomal Recessive ISO RGD:1321241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive PMID:25741868|PMID:28492532 8994196 Als2 alsin Rho guanine nucleotide exchange factor ALS2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1321241 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 8994246 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:0080000 muscular disease ISO RGD:730958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 8994246 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:1059 intellectual disability ISO RGD:730958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8994246 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:1574 alcohol use disorder susceptibility ISO RGD:730958 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1176744(human) PMID:20838391|REF_RGD_ID:6480660 8994246 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:1596 depressive disorder susceptibility ISO RGD:730958 D RGD:9068941 20200609 RGD PMID:16487942|REF_RGD_ID:6480662 8994246 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:630 genetic disease ISO RGD:730958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994246 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:9000641 Pain ISO RGD:730958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17600820 8994246 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:730958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8994246 Htr3b 5-hydroxytryptamine receptor 3B gene DOID:9005632 Cocaine-Related Disorders susceptibility ISO RGD:730958 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs1176744(human) PMID:20838391|REF_RGD_ID:6480660 8994263 Cdhr4 cadherin related family member 4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 8994263 Cdhr4 cadherin related family member 4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 8994263 Cdhr4 cadherin related family member 4 gene DOID:630 genetic disease ISO RGD:1605792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994263 Cdhr4 cadherin related family member 4 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1605792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 8994292 Ankrd46 ankyrin repeat domain 46 gene DOID:0111590 Cohen syndrome ISO RGD:1606443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8994292 Ankrd46 ankyrin repeat domain 46 gene DOID:630 genetic disease ISO RGD:1606443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994315 Egflam EGF like, fibronectin type III and laminin G domains gene DOID:630 genetic disease ISO RGD:1602070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994315 Egflam EGF like, fibronectin type III and laminin G domains gene DOID:9002189 High Myopia ISO RGD:1602070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8994315 Egflam EGF like, fibronectin type III and laminin G domains gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8994347 Hmgn2 high mobility group nucleosomal binding domain 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1350424 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8994357 Eif3i eukaryotic translation initiation factor 3 subunit I gene DOID:630 genetic disease ISO RGD:1350072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994357 Eif3i eukaryotic translation initiation factor 3 subunit I gene DOID:9002928 Colonic Neoplasms ISO RGD:1350072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056964 8994357 Eif3i eukaryotic translation initiation factor 3 subunit I gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1350072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11830523|PMID:24056964 8994377 Nkain1 sodium/potassium transporting ATPase interacting 1 gene DOID:630 genetic disease ISO RGD:1606507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994392 Slc38a8 solute carrier family 38 member 8 gene DOID:0070531 foveal hypoplasia 2 ISO RGD:2290191 D RGD:7240710 20180130 OMIM 8994392 Slc38a8 solute carrier family 38 member 8 gene DOID:0070531 foveal hypoplasia 2 ISO RGD:2290191 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis PMID:16199547|PMID:16707527|PMID:19590516|PMID:24045842|PMID:24290379|PMID:25741868|PMID:28492532|PMID:28546991|PMID:29345414|PMID:32032626|PMID:33498813|PMID:33594928|PMID:33781268 8994392 Slc38a8 solute carrier family 38 member 8 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:2290191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 8994392 Slc38a8 solute carrier family 38 member 8 gene DOID:14791 Leber congenital amaurosis ISO RGD:2290191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:17576681|PMID:28492532|PMID:28714225|PMID:33594928|PMID:9536098 8994392 Slc38a8 solute carrier family 38 member 8 gene DOID:630 genetic disease ISO RGD:2290191 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16707527|PMID:24290379|PMID:25741868|PMID:28492532 8994392 Slc38a8 solute carrier family 38 member 8 gene DOID:9001923 Foveal Hypoplasia ISO RGD:2290191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:24045842 8994392 Slc38a8 solute carrier family 38 member 8 gene DOID:9005126 Malonic Aciduria ISO RGD:2290191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of malonyl-CoA decarboxylase PMID:12955715|PMID:17186413|PMID:28492532 8994392 Slc38a8 solute carrier family 38 member 8 gene DOID:9562 primary ciliary dyskinesia ISO RGD:2290191 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 8994409 LOC102023042 chromosome unknown open reading frame, human C1orf74 gene DOID:0060239 Van der Woude syndrome ISO RGD:1606707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:14618417 8994409 LOC102023042 chromosome unknown open reading frame, human C1orf74 gene DOID:1540 parathyroid carcinoma ISO RGD:1606707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8994409 LOC102023042 chromosome unknown open reading frame, human C1orf74 gene DOID:630 genetic disease ISO RGD:1606707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994409 LOC102023042 chromosome unknown open reading frame, human C1orf74 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8994435 Sipa1l3 signal induced proliferation associated 1 like 3 gene DOID:0110262 cataract 45 ISO RGD:1322892 D RGD:7240710 20190315 OMIM 8994435 Sipa1l3 signal induced proliferation associated 1 like 3 gene DOID:0110262 cataract 45 ISO RGD:1322892 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cataract 45 PMID:25741868|PMID:25804400|PMID:28492532 8994435 Sipa1l3 signal induced proliferation associated 1 like 3 gene DOID:630 genetic disease ISO RGD:1322892 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8994461 Fam120a family with sequence similarity 120 member A gene DOID:12642 hiatus hernia ISO RGD:1315374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 8994461 Fam120a family with sequence similarity 120 member A gene DOID:630 genetic disease ISO RGD:1315374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994483 Tstd1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:2859136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8994483 Tstd1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:2859136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8994483 Tstd1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:630 genetic disease ISO RGD:2859136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994483 Tstd1 thiosulfate sulfurtransferase like domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2859136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8994491 Sanbr SANT and BTB domain regulator of CSR gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1606998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:19449432|PMID:28492532 8994491 Sanbr SANT and BTB domain regulator of CSR gene DOID:630 genetic disease ISO RGD:1606998 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994520 Kif21a kinesin family member 21A gene DOID:0080143 congenital fibrosis of the extraocular muscles ISO RGD:1312975 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL PMID:14595441|PMID:15621876|PMID:15621877|PMID:15827546|PMID:18332320|PMID:19551685|PMID:24656932|PMID:25741868|PMID:28492532 8994520 Kif21a kinesin family member 21A gene DOID:0080600 COVID-19 ISO RGD:1312975 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8994520 Kif21a kinesin family member 21A gene DOID:0081015 congenital fibrosis of the extraocular muscles 1 ISO RGD:1312975 D RGD:7240710 20180130 OMIM 8994520 Kif21a kinesin family member 21A gene DOID:0081015 congenital fibrosis of the extraocular muscles 1 ISO RGD:1312975 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b | ClinVar Annotator: match by term: KIF21A-related condition PMID:10922204|PMID:14595441|PMID:15223798|PMID:15621876|PMID:15621877|PMID:15827546|PMID:18332320|PMID:19551685|PMID:24656932|PMID:25741868|PMID:28492532 8994520 Kif21a kinesin family member 21A gene DOID:12271 aniridia ISO RGD:1312975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia PMID:26893459 8994520 Kif21a kinesin family member 21A gene DOID:5409 lung small cell carcinoma ISO RGD:1312975 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 8994520 Kif21a kinesin family member 21A gene DOID:630 genetic disease ISO RGD:1312975 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8994578 Tpcn2 two pore segment channel 2 gene DOID:1059 intellectual disability ISO RGD:1323411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8994578 Tpcn2 two pore segment channel 2 gene DOID:3454 brain infarction ISO RGD:1311779 D RGD:9068941 20230527 RGD mRNA:increased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8994578 Tpcn2 two pore segment channel 2 gene DOID:630 genetic disease ISO RGD:1323411 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8994578 Tpcn2 two pore segment channel 2 gene DOID:9000097 Skin/Hair/Eye Pigmentation, Variation In, 10 ISO RGD:1323411 D RGD:7240710 20210818 OMIM 8994578 Tpcn2 two pore segment channel 2 gene DOID:9000097 Skin/Hair/Eye Pigmentation, Variation In, 10 ISO RGD:1323411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 10 PMID:18488028|PMID:25741868 8994578 Tpcn2 two pore segment channel 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1323411 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8994578 Tpcn2 two pore segment channel 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1323411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8994578 Tpcn2 two pore segment channel 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1323411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8994620 Garin1b golgi associated RAB2 interactor 1B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8994620 Garin1b golgi associated RAB2 interactor 1B gene DOID:630 genetic disease ISO RGD:1606759 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994646 Slc22a15 solute carrier family 22 member 15 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1322509 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 8994646 Slc22a15 solute carrier family 22 member 15 gene DOID:630 genetic disease ISO RGD:1322509 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994646 Slc22a15 solute carrier family 22 member 15 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 8994675 Drc7 dynein regulatory complex subunit 7 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8994675 Drc7 dynein regulatory complex subunit 7 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604275 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8994675 Drc7 dynein regulatory complex subunit 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604275 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 8994675 Drc7 dynein regulatory complex subunit 7 gene DOID:630 genetic disease ISO RGD:1604275 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994699 Sptbn2 spectrin beta, non-erythrocytic 2 gene DOID:0050753 cerebellar ataxia ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 8994699 Sptbn2 spectrin beta, non-erythrocytic 2 gene DOID:0050882 spinocerebellar ataxia type 5 ISO RGD:731487 D RGD:7240710 20180130 OMIM 8994699 Sptbn2 spectrin beta, non-erythrocytic 2 gene DOID:0050882 spinocerebellar ataxia type 5 ISO RGD:731487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 5 PMID:16429157|PMID:20368622|PMID:20603325|PMID:22843192|PMID:22914369|PMID:25057192|PMID:25741868|PMID:25741869|PMID:25981959|PMID:26467025|PMID:26633542|PMID:28492532|PMID:29389947|PMID:29590070|PMID:31066025|PMID:31721007|PMID:33318253|PMID:33801522 8994699 Sptbn2 spectrin beta, non-erythrocytic 2 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:26467025|PMID:28492532 8994699 Sptbn2 spectrin beta, non-erythrocytic 2 gene DOID:0080058 autosomal recessive spinocerebellar ataxia 14 ISO RGD:731487 D RGD:7240710 20180130 OMIM 8994699 Sptbn2 spectrin beta, non-erythrocytic 2 gene DOID:0080058 autosomal recessive spinocerebellar ataxia 14 ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 | ClinVar Annotator: match by term: SPTBN2-related condition PMID:17940722|PMID:23236289|PMID:23838597|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29196973|PMID:29590070 8994699 Sptbn2 spectrin beta, non-erythrocytic 2 gene DOID:1059 intellectual disability ISO RGD:731487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:30167849 8994699 Sptbn2 spectrin beta, non-erythrocytic 2 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:731487 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:17940722|PMID:25741868|PMID:26467025|PMID:28492532 8994699 Sptbn2 spectrin beta, non-erythrocytic 2 gene DOID:630 genetic disease ISO RGD:731487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17121810|PMID:17940722|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070 8994699 Sptbn2 spectrin beta, non-erythrocytic 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:731487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8994699 Sptbn2 spectrin beta, non-erythrocytic 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:731487 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8994699 Sptbn2 spectrin beta, non-erythrocytic 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:731487 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8994743 Spp2 secreted phosphoprotein 2 gene DOID:0060476 Perlman syndrome ISO RGD:1344565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8994743 Spp2 secreted phosphoprotein 2 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1344565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8994743 Spp2 secreted phosphoprotein 2 gene DOID:630 genetic disease ISO RGD:1344565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8994755 Samd12 sterile alpha motif domain containing 12 gene DOID:0111690 familial adult myoclonic epilepsy 1 ISO RGD:1344782 D RGD:7240710 20190315 OMIM 8994755 Samd12 sterile alpha motif domain containing 12 gene DOID:0111690 familial adult myoclonic epilepsy 1 ISO RGD:1344782 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 8994755 Samd12 sterile alpha motif domain containing 12 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1344782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8994755 Samd12 sterile alpha motif domain containing 12 gene DOID:206 hereditary multiple exostoses ISO RGD:1344782 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 8994755 Samd12 sterile alpha motif domain containing 12 gene DOID:630 genetic disease ISO RGD:1344782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994755 Samd12 sterile alpha motif domain containing 12 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1344782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507423 8994774 Psma3 proteasome 20S subunit alpha 3 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:732188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC PMID:21953331|PMID:26524591 8994774 Psma3 proteasome 20S subunit alpha 3 gene DOID:0110992 Joubert syndrome 23 ISO RGD:732188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532 8994774 Psma3 proteasome 20S subunit alpha 3 gene DOID:630 genetic disease ISO RGD:732188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8994793 Rab26 RAB26, member RAS oncogene family gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736116 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 8994793 Rab26 RAB26, member RAS oncogene family gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 8994793 Rab26 RAB26, member RAS oncogene family gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8994793 Rab26 RAB26, member RAS oncogene family gene DOID:1826 epilepsy ISO RGD:736116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8994793 Rab26 RAB26, member RAS oncogene family gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8994793 Rab26 RAB26, member RAS oncogene family gene DOID:2871 endometrial carcinoma ISO RGD:736116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 8994793 Rab26 RAB26, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994793 Rab26 RAB26, member RAS oncogene family gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 8994818 Epsti1 epithelial stromal interaction 1 gene DOID:0080600 COVID-19 ISO RGD:1353297 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8994818 Epsti1 epithelial stromal interaction 1 gene DOID:0080600 COVID-19 ISO RGD:1353297 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8994818 Epsti1 epithelial stromal interaction 1 gene DOID:10283 prostate cancer ISO RGD:1353297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 8994818 Epsti1 epithelial stromal interaction 1 gene DOID:630 genetic disease ISO RGD:1353297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994832 Ltk leukocyte receptor tyrosine kinase gene DOID:11612 polycystic ovary syndrome ISO RGD:1319608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8994832 Ltk leukocyte receptor tyrosine kinase gene DOID:2717 Bloom syndrome ISO RGD:1319608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8994832 Ltk leukocyte receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:1319608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994832 Ltk leukocyte receptor tyrosine kinase gene DOID:9256 colorectal cancer ISO RGD:1319608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8994855 Nim1k NIM1 serine/threonine protein kinase gene DOID:630 genetic disease ISO RGD:1604515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994866 Znf385d zinc finger protein 385D gene DOID:303 substance-related disorder ISO RGD:1354143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8994866 Znf385d zinc finger protein 385D gene DOID:630 genetic disease ISO RGD:1354143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994866 Znf385d zinc finger protein 385D gene DOID:670 amphetamine abuse ISO RGD:1354143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 8994906 Trpm5 transient receptor potential cation channel subfamily M member 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 8994906 Trpm5 transient receptor potential cation channel subfamily M member 5 gene DOID:0080773 delta beta-thalassemia ISO RGD:1321629 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 8994906 Trpm5 transient receptor potential cation channel subfamily M member 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 8994906 Trpm5 transient receptor potential cation channel subfamily M member 5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1321629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 8994906 Trpm5 transient receptor potential cation channel subfamily M member 5 gene DOID:630 genetic disease ISO RGD:1321629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994906 Trpm5 transient receptor potential cation channel subfamily M member 5 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1321629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 8994935 Capns1 calpain small subunit 1 gene DOID:0080600 COVID-19 ISO RGD:735486 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8994935 Capns1 calpain small subunit 1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:735486 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8994935 Capns1 calpain small subunit 1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:735486 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8994935 Capns1 calpain small subunit 1 gene DOID:630 genetic disease ISO RGD:735486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994935 Capns1 calpain small subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8994952 Zbtb14 zinc finger and BTB domain containing 14 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1345499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 8994952 Zbtb14 zinc finger and BTB domain containing 14 gene DOID:1059 intellectual disability ISO RGD:1345499 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8994952 Zbtb14 zinc finger and BTB domain containing 14 gene DOID:630 genetic disease ISO RGD:1345499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994981 Smim3 small integral membrane protein 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8994981 Smim3 small integral membrane protein 3 gene DOID:630 genetic disease ISO RGD:1605605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8994981 Smim3 small integral membrane protein 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605605 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8995005 Pspn persephin gene DOID:0080490 mucolipidosis type IV ISO RGD:736997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 8995005 Pspn persephin gene DOID:630 genetic disease ISO RGD:736997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995011 Adcy7 adenylate cyclase 7 gene DOID:0111122 nephronophthisis 14 ISO RGD:735780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 8995011 Adcy7 adenylate cyclase 7 gene DOID:5419 schizophrenia ISO RGD:735780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 8995011 Adcy7 adenylate cyclase 7 gene DOID:630 genetic disease ISO RGD:735780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995011 Adcy7 adenylate cyclase 7 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:735780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8995011 Adcy7 adenylate cyclase 7 gene DOID:8577 ulcerative colitis ISO RGD:735780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28067910 8995011 Adcy7 adenylate cyclase 7 gene DOID:9119 acute myeloid leukemia ISO RGD:735780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736865 D RGD:9068941 20221217 RGD protein:increased expression:lung (human) PMID:29722558|REF_RGD_ID:155791445 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050331 lacrimoauriculodentodigital syndrome 1 ISO RGD:736865 D RGD:7240710 20230111 OMIM 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050331 lacrimoauriculodentodigital syndrome 1 ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16501574|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18056630|PMID:18414213|PMID:18552176|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:31502745|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9677057|PMID:9700203|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures PMID:10076886|PMID:10076887|PMID:10406670|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:15996217|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18552176|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8651276|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9462761|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050660 Beare-Stevenson cutis gyrata syndrome ISO RGD:736865 D RGD:7240710 20180130 OMIM 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050660 Beare-Stevenson cutis gyrata syndrome ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Beare-Stevenson cutis gyrata syndrome | ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:18247426|PMID:18552176|PMID:19610084|PMID:20301628|PMID:20489451|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8696350|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9677057|PMID:9700203|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0050861 colorectal adenocarcinoma treatment ISO RGD:736865 D RGD:9068941 20221201 RGD human cell line in a mouse model PMID:31255687|REF_RGD_ID:155663557 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0060321 umbilical hernia ISO RGD:10581 D RGD:9068941 20200609 RGD PMID:21238647|REF_RGD_ID:11567270 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0080016 spina bifida ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9605588 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9002682 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma PMID:26619011 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0080216 duodenal atresia ISO RGD:10581 D RGD:9068941 20200609 RGD PMID:15185216|REF_RGD_ID:12801491 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0081289 Antley-Bixler syndrome ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures PMID:10076886|PMID:10076887|PMID:10406670|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:15996217|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18552176|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8651276|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9462761|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:736865 D RGD:7240710 20180130 OMIM 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis ISO RGD:736865 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis PMID:10076886|PMID:10076887|PMID:10406670|PMID:10541159|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15316116|PMID:15389579|PMID:15975938|PMID:15996217|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18552176|PMID:20133659|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25741868|PMID:25759925|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7607643|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9385368|PMID:9462761|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0081370 LADD syndrome ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16501574|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18056630|PMID:18414213|PMID:18552176|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:31502745|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9677057|PMID:9700203|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0090020 split hand-foot malformation ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:25741868 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:736865 D RGD:7240710 20180130 OMIM 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:0111337 Jackson-Weiss syndrome ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome PMID:10541159|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11390973|PMID:11556600|PMID:12124745|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18552176|PMID:19066959|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25741868|PMID:25759925|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26467025|PMID:26619011|PMID:27481450|PMID:28492532|PMID:31145570|PMID:7581378|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8528214|PMID:8644708|PMID:8651276|PMID:8957519|PMID:9002682|PMID:9385368|PMID:9462761|PMID:9586546|PMID:9677057|PMID:9700203|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10003 sensorineural hearing loss ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:30311386|PMID:34652575 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:2611 D RGD:9068941 20200609 RGD mRNA:splice variant::shift from Fgfr2IIIb to Fgfr2IIIc in malignancy, restoration of Fgfr2IIIb slows growth PMID:9537256|REF_RGD_ID:2289859 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA:alternative form:prostate:switch from isoform IIIb to IIIc PMID:11170144|REF_RGD_ID:2289746 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:9285567|REF_RGD_ID:2289086 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate:isoforms IIIb and IIIc, decrease in IIIb associated with progression to androgen-independence PMID:12111699|REF_RGD_ID:2289728 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10283 prostate cancer no_association ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:mutation,polymorphism:exons:no mutations or polymorphisms found in patient or cell line DNA to explain changes in expression seen in other studies PMID:11069376|REF_RGD_ID:2289845 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10486 intestinal atresia ISO RGD:10581 D RGD:9068941 20220825 MouseDO 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10533 viral pneumonia ISO RGD:10581 D RGD:9068941 20210611 RGD protein:increased expression:epithelial stem/progenitor cells (mouse) PMID:27322618|REF_RGD_ID:127284849 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer ISO RGD:736865 D RGD:7240710 20220209 OMIM 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10394936|PMID:10851026|PMID:11121055|PMID:11325814|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16838304|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25759927|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7655462|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9700203|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10534 stomach cancer severity ISO RGD:736865 D RGD:9068941 20200609 RGD protein:increased expression:stomach (human) PMID:9816310|REF_RGD_ID:12801419 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10584 retinitis pigmentosa treatment ISO RGD:2611 D RGD:9068941 20200609 RGD PMID:11319911|REF_RGD_ID:12801430 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1059 intellectual disability ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16465081 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10762 portal hypertension ISO RGD:2611 D RGD:9068941 20230202 RGD mRNA, protein:decreased expression:esophagus mucosa (rat) PMID:8644008|REF_RGD_ID:155882599 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10825 essential hypertension sexual_dimorphism ISO RGD:2611 D RGD:9068941 20221217 RGD mRNA, protein:decreased expression:inferior vagus X ganglion, nucleus of solitary tract (rat) PMID:31626954|REF_RGD_ID:155791444 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:10892 hypospadias ISO RGD:2611 D RGD:9068941 20200609 RGD mRNA:decreased expression:male genital tubercle (rat) PMID:19464577|REF_RGD_ID:2314151 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:hypermethylation, loss of heterozygosity, deletions:exon (human) PMID:10602477|REF_RGD_ID:2301193 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:11054 urinary bladder cancer ISO RGD:736865 D RGD:9068941 20200609 RGD associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion:cds:758C>G amino acid P253R PMID:16969861|REF_RGD_ID:2289664 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1107 esophageal carcinoma ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:25157968|PMID:26619011 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:11934 head and neck cancer ISO RGD:736865 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Head and neck neoplasm PMID:11390973|PMID:12124745|PMID:15389579|PMID:16969861|PMID:17251833|PMID:20489451|PMID:23786770|PMID:24656465|PMID:25741868|PMID:25867380|PMID:28492532|PMID:31145570|PMID:7668257|PMID:7719344|PMID:8651276|PMID:9677057|PMID:9700203 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:7240710 20180130 OMIM 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly PMID:10394936|PMID:10618369|PMID:10633130|PMID:10851026|PMID:11121055|PMID:11173845|PMID:11390973|PMID:11781872|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12400058|PMID:12884424|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:18552176|PMID:18726952|PMID:20133659|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:28166811|PMID:28492532|PMID:31145570|PMID:7607643|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9150725|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9677057|PMID:9700203|PMID:9719378|PMID:9973282 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia ISO RGD:736865 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly PMID:10394936|PMID:10618369|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11390973|PMID:11781872|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16531735|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27079505|PMID:27683237|PMID:28492532|PMID:28611549|PMID:30919572|PMID:31145570|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9150725|PMID:9462761|PMID:9475591|PMID:9536098|PMID:9677057|PMID:9700203|PMID:9719378|PMID:9973282 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia severity ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P253R (human) PMID:10735635|REF_RGD_ID:12801488 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:12960 acrocephalosyndactylia treatment ISO RGD:10581 D RGD:9068941 20200609 RGD PMID:17694057|REF_RGD_ID:12801474 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:736865 D RGD:9068941 20221217 RGD protein:increased expression:lung (human) PMID:29722558|REF_RGD_ID:155791445 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:14705 Pfeiffer syndrome ISO RGD:736865 D RGD:7240710 20180130 OMIM 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:14705 Pfeiffer syndrome ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10633130|PMID:10851026|PMID:10874645|PMID:10945669|PMID:11121055|PMID:11325814|PMID:11390973|PMID:11556600|PMID:11781872|PMID:11807866|PMID:12124745|PMID:12400058|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15975938|PMID:15996217|PMID:16158432|PMID:16199547|PMID:16418739|PMID:16440883|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:17576681|PMID:17803937|PMID:18541976|PMID:18552176|PMID:18618990|PMID:19066959|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:22238366|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25271085|PMID:25361936|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:26289989|PMID:26362256|PMID:26380986|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27228464|PMID:27481450|PMID:27683237|PMID:27803855|PMID:28492532|PMID:31145570|PMID:31754721|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8434615|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9531645|PMID:9536098|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:736865 D RGD:7240710 20180725 OMIM 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17264867|PMID:17525745|PMID:18552176|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26325558|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9585583|PMID:9677057|PMID:9700203|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:SNP:intron:dbSNP ID rs2981582, p=2X10-76 PMID:17529967|REF_RGD_ID:2289657 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer ISO RGD:736865 D RGD:9068941 20200609 RGD sporadic postmenopausal breast cancer; DNA:SNP:intron:dbSNP ID rs1219648, p=1.1x10-10 PMID:17529973|REF_RGD_ID:2289658 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1612 breast cancer exacerbates ISO RGD:10581 D RGD:9068941 20221208 RGD PMID:23185502|REF_RGD_ID:155663674 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1657 ventricular septal defect ISO RGD:10581 D RGD:9068941 20221203 RGD PMID:16687131|REF_RGD_ID:155663670 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1749 squamous cell carcinoma ISO RGD:736865 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1923 disorder of sexual development ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:1936 atherosclerosis treatment ISO RGD:10581 D RGD:9068941 20221217 RGD PMID:24224032|REF_RGD_ID:155791446 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2611 D RGD:9068941 20230202 RGD associated with Experimental Diabetes Mellitus PMID:22432030|REF_RGD_ID:155882598 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:227 ankylosis ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9605588 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:7240710 20180130 OMIM 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2339 Crouzon syndrome ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Craniofacial dysostosis | ClinVar Annotator: match by term: Craniofacial dysostosis type 1 | ClinVar Annotator: match by term: Crouzon disease | ClinVar Annotator: match by term: Crouzon syndrome PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11870239|PMID:12124745|PMID:12186468|PMID:12357470|PMID:12477974|PMID:12884424|PMID:12884434|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:18552176|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:26619011|PMID:27028366|PMID:27228464|PMID:27430617|PMID:27481450|PMID:27683237|PMID:28492532|PMID:28611549|PMID:28901406|PMID:29037998|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9152842|PMID:9169049|PMID:9385368|PMID:9462761|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575031|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15863034|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18391498|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21367659|PMID:21397175|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:270283566|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27481450|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:29037998|PMID:29109840|PMID:31145570|PMID:4078868|PMID:7558045|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12357470|PMID:12400058|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:18247426|PMID:18541976|PMID:18552176|PMID:18726952|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:21367659|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25741868|PMID:25867380|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26619011|PMID:27028366|PMID:27683237|PMID:27803855|PMID:28166811|PMID:28492532|PMID:28611549|PMID:28901406|PMID:31145570|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2340 craniosynostosis ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10067911|PMID:10076886|PMID:10076887|PMID:10394936|PMID:10406670|PMID:10541159|PMID:10574673|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:10851026|PMID:10874645|PMID:10951518|PMID:11121055|PMID:11173845|PMID:11325814|PMID:11343323|PMID:11390973|PMID:11556600|PMID:11711827|PMID:11781872|PMID:11807866|PMID:11870239|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12186468|PMID:12357470|PMID:12400058|PMID:12477974|PMID:12575301|PMID:12884424|PMID:12884434|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:1519658|PMID:15282208|PMID:15286168|PMID:15316116|PMID:15389579|PMID:15523615|PMID:15793702|PMID:15883293|PMID:15975938|PMID:15996217|PMID:16061565|PMID:16158432|PMID:16199547|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16470531|PMID:16501574|PMID:16531735|PMID:16740155|PMID:16838304|PMID:16969861|PMID:1697263|PMID:17251833|PMID:17264867|PMID:17525745|PMID:17576681|PMID:17693524|PMID:17803937|PMID:17873121|PMID:18247426|PMID:18391498|PMID:18414213|PMID:18541976|PMID:18552176|PMID:18618990|PMID:18726952|PMID:19066959|PMID:19610084|PMID:20133659|PMID:20301628|PMID:20489451|PMID:20503384|PMID:20643727|PMID:20856019|PMID:21189955|PMID:21367659|PMID:21397175|PMID:21524234|PMID:2172978|PMID:22238366|PMID:22387015|PMID:22558232|PMID:22664175|PMID:22665975|PMID:23002168|PMID:23348274|PMID:23430493|PMID:23431754|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23754559|PMID:23786770|PMID:23787031|PMID:23908597|PMID:23995961|PMID:24016645|PMID:24036790|PMID:24127277|PMID:24486773|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25129254|PMID:25157968|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25361936|PMID:25425289|PMID:25706251|PMID:25741868|PMID:25759925|PMID:25759927|PMID:25867380|PMID:25937001|PMID:26289989|PMID:26325558|PMID:26362256|PMID:26380986|PMID:26429889|PMID:26467025|PMID:26557159|PMID:26619011|PMID:27028366|PMID:27079505|PMID:27228464|PMID:27430617|PMID:27481450|PMID:27527345|PMID:27683237|PMID:27803855|PMID:28492532|PMID:28611549|PMID:28901406|PMID:28990276|PMID:29037998|PMID:29095814|PMID:29109840|PMID:30919572|PMID:31145570|PMID:31502745|PMID:31754721|PMID:32595695|PMID:33937142|PMID:35802133|PMID:36633841|PMID:4078868|PMID:7573032|PMID:7581378|PMID:7607643|PMID:7655462|PMID:7668257|PMID:7719329|PMID:7719333|PMID:7719344|PMID:7719345|PMID:7773284|PMID:7795583|PMID:7874170|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8522336|PMID:8528214|PMID:8644708|PMID:8650126|PMID:8651276|PMID:8696350|PMID:8755573|PMID:8946174|PMID:8957519|PMID:8958319|PMID:9002682|PMID:9048930|PMID:9150725|PMID:9152842|PMID:9385368|PMID:9462761|PMID:9475591|PMID:9521581|PMID:9531645|PMID:9536098|PMID:9539778|PMID:9585583|PMID:9586546|PMID:9605588|PMID:9677057|PMID:9700203|PMID:9714439|PMID:9719378|PMID:9973282 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:urinary bladder PMID:9018118|REF_RGD_ID:2301194 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2871 endometrial carcinoma ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10851026|PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:16531735|PMID:17525745|PMID:18552176|PMID:20301628|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:8696350|PMID:9002682|PMID:9462761|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:289 endometriosis ISO RGD:736865 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary, epithelial cell PMID:17482184|REF_RGD_ID:2301191 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:289 endometriosis no_association ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18285324|REF_RGD_ID:2301190 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:2938 Epstein-Barr virus infectious disease no_association ISO RGD:736865 D RGD:9068941 20200813 RGD DNA:missense mutation:cds:(rs755793) (human) PMID:29446487|REF_RGD_ID:38500242 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:363 uterine cancer ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:37 skin disease ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:23786770|PMID:25741868|PMID:9150725 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:3910 lung adenocarcinoma ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:17525745|PMID:18552176|PMID:22238366|PMID:23002168|PMID:23908597|PMID:25157968|PMID:26619011 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:4441 dysgerminoma ISO RGD:736865 D RGD:9068941 20200609 RGD associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion,duplication:cds:758C>G amino acid P253R, duplication of 10q26 resulting in one extra copy of FGFR2 PMID:17243131|REF_RGD_ID:2289660 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:5082 liver cirrhosis ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17692400 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:5517 stomach carcinoma treatment ISO RGD:736865 D RGD:9068941 20221201 RGD human cell line in a mouse model PMID:31255687|REF_RGD_ID:155663557 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:5844 myocardial infarction ameliorates ISO RGD:10581 D RGD:9068941 20221201 RGD PMID:19358330|REF_RGD_ID:155663664 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:6171 uterine carcinosarcoma ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:630 genetic disease ISO RGD:736865 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10067911|PMID:10618369|PMID:10633130|PMID:10712195|PMID:10735635|PMID:11173845|PMID:11343323|PMID:11781872|PMID:12884424|PMID:1519658|PMID:15793702|PMID:15883293|PMID:16061565|PMID:16418739|PMID:16501574|PMID:16740155|PMID:17693524|PMID:18726952|PMID:19610084|PMID:22387015|PMID:24127277|PMID:24486773|PMID:25209230|PMID:25245177|PMID:25271085|PMID:25343114|PMID:25741868|PMID:26362256|PMID:26446305|PMID:26573129|PMID:27028366|PMID:27240702|PMID:28492532|PMID:28901406|PMID:4078868|PMID:7573032|PMID:7655462|PMID:7987400|PMID:7989400|PMID:8434615|PMID:8528214|PMID:8755573|PMID:9585583 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:674 cleft palate ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255|PMID:29526646 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:684 hepatocellular carcinoma severity ISO RGD:736865 D RGD:9068941 20200820 RGD associated with hepatitis B;DNA:SNPs: promoter, intron:rs308379, rs1219648 (human) PMID:30952770|REF_RGD_ID:38501096 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:7843 female breast carcinoma treatment ISO RGD:736865 D RGD:9068941 20221201 RGD human cell line in a mouse model PMID:31255687|REF_RGD_ID:155663557 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:8632 Kaposi's sarcoma ISO RGD:736865 D RGD:9068941 20221203 RGD mRNA:increased expression:zone of skin (human) PMID:18804962|REF_RGD_ID:155663668 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:8634 prostate carcinoma in situ ISO RGD:10581 D RGD:9068941 20200609 RGD PMID:14695195|REF_RGD_ID:2301192 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:736865 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:snp:intron:c.109+7033T>A (rs1219648) (human) PMID:20640597|REF_RGD_ID:7394846 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000146 Plaque, Atherosclerotic exacerbates ISO RGD:736865 D RGD:9068941 20221201 RGD mRNA, protein:decreased expression:carotid artery segment (human) PMID:24075588|REF_RGD_ID:155663561 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Gastric neoplasm | ClinVar Annotator: match by term: Stomach Neoplasms PMID:11390973|PMID:12124745|PMID:15389579|PMID:16158432|PMID:16418739|PMID:16838304|PMID:16969861|PMID:17251833|PMID:20489451|PMID:23786770|PMID:24127277|PMID:24656465|PMID:25741868|PMID:25867380|PMID:28492532|PMID:31145570|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8957519|PMID:9677057|PMID:9700203 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000967 Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development ISO RGD:736865 D RGD:7240710 20180130 OMIM 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9000967 Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT PMID:10851026|PMID:11121055|PMID:11390973|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16061565|PMID:16158432|PMID:16418739|PMID:16440883|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18552176|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26467025|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8957519|PMID:9002682|PMID:9169049|PMID:9462761|PMID:9677057|PMID:9700203|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:736865 D RGD:7240710 20180130 OMIM 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001258 Bent Bone Dysplasia Syndrome 1 ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: BENT BONE DYSPLASIA SYNDROME 1 | ClinVar Annotator: match by term: Bent bone dysplasia syndrome 1 | ClinVar Annotator: match by term: FGFR2-related bent bone dysplasia PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15389579|PMID:15975938|PMID:16158432|PMID:1641873|PMID:16418739|PMID:16440883|PMID:16838304|PMID:16969861|PMID:17251833|PMID:17525745|PMID:18552176|PMID:20301628|PMID:20489451|PMID:21367659|PMID:22238366|PMID:22387015|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23786770|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:24656465|PMID:24728327|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26446305|PMID:26467025|PMID:26573129|PMID:26619011|PMID:27240702|PMID:28492532|PMID:31145570|PMID:7668257|PMID:7719344|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8651276|PMID:8946174|PMID:8957519|PMID:9002682|PMID:9462761|PMID:9677057|PMID:9700203|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001347 Leg Ulcer ISO RGD:736865 D RGD:9068941 20221201 RGD associated with chronic venous insufficiency;DNA:SNP:3' utr: (human) PMID:15854058|REF_RGD_ID:155663562 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001471 Anorectal Malformations ISO RGD:2611 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum (rat) PMID:26514922|REF_RGD_ID:11052641 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001519 Acneiform Eruptions ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S252W (human) PMID:18410418|REF_RGD_ID:12801492 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001553 Spinal Cord Compression ISO RGD:2611 D RGD:9068941 20221208 RGD protein:increased expression:spinal cord (rat) PMID:28981091|REF_RGD_ID:155782905 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9001946 Skin Abnormalities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736865 D RGD:9068941 20200609 RGD epithelial ovarian cancer (OMIM:604370); mRNA:increased expression:ovary PMID:11593393|REF_RGD_ID:2289733 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9003133 Hypertelorism ISO RGD:736865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:11781872|PMID:12884424|PMID:20643727|PMID:23348274|PMID:23754559|PMID:25271085|PMID:25741868|PMID:27228464|PMID:27683237|PMID:28492532|PMID:7874170 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:736865 D RGD:9068941 20200609 RGD cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells PMID:17306351|REF_RGD_ID:2289084 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9003730 Chemical Burns ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:736865 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation PMID:10851026|PMID:11121055|PMID:11390973|PMID:11781872|PMID:12124745|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15523615|PMID:15975938|PMID:16440883|PMID:17525745|PMID:18541976|PMID:18552176|PMID:20301628|PMID:21367659|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:23908597|PMID:24016645|PMID:24127277|PMID:24489893|PMID:25157968|PMID:25741868|PMID:25867380|PMID:26380986|PMID:26619011|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:9002682|PMID:9462761|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9004309 Congenital Aural Atresia ISO RGD:736865 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: AURAL ATRESIA, CONGENITAL, WITH HYPOSMIA PMID:23786770|PMID:25741868|PMID:9150725 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:10581 D RGD:9068941 20221201 RGD associated with hypertension PMID:16549517|REF_RGD_ID:155663564 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17311802 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm PMID:17525745|PMID:18552176|PMID:22238366|PMID:23002168|PMID:23908597|PMID:25157968|PMID:26619011 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:736865 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Head and Neck Neoplasms PMID:11390973|PMID:12124745|PMID:15389579|PMID:16969861|PMID:17251833|PMID:20489451|PMID:23786770|PMID:24656465|PMID:25741868|PMID:25867380|PMID:28492532|PMID:31145570|PMID:7668257|PMID:7719344|PMID:8651276|PMID:9677057|PMID:9700203 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10581 D RGD:9068941 20221203 RGD protein:increased phosphorylation:kidney (mouse) PMID:20591940|REF_RGD_ID:155663667 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:10581 D RGD:9068941 20221208 RGD PMID:29344510|REF_RGD_ID:155782904 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury exacerbates ISO RGD:10581 D RGD:9068941 20221208 RGD PMID:32523960|REF_RGD_ID:155782882 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006223 Kidney Reperfusion Injury exacerbates ISO RGD:2611 D RGD:9068941 20230128 RGD PMID:22688984|REF_RGD_ID:155882537 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006294 Congenital Limb Deformities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:736865 D RGD:9068941 20221201 RGD mRNA:increased expression:lung (rat) PMID:35600952|REF_RGD_ID:155663563 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9007653 Multiple Abnormalities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736865 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Endometrial neoplasm PMID:10851026|PMID:11121055|PMID:11390973|PMID:12000365|PMID:12124745|PMID:12145519|PMID:12900900|PMID:14499350|PMID:14695532|PMID:14972326|PMID:15975938|PMID:16440883|PMID:16531735|PMID:17525745|PMID:18247426|PMID:18552176|PMID:20301628|PMID:20856019|PMID:21367659|PMID:21397175|PMID:22238366|PMID:22664175|PMID:23002168|PMID:23430493|PMID:23495007|PMID:23546041|PMID:23632174|PMID:23787031|PMID:24016645|PMID:24127277|PMID:24489893|PMID:25157968|PMID:25706251|PMID:25741868|PMID:25867380|PMID:25937001|PMID:26380986|PMID:26619011|PMID:27079505|PMID:28492532|PMID:31145570|PMID:7719344|PMID:8651276|PMID:8696350|PMID:9002682|PMID:9462761|PMID:9719378 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:736865 D RGD:9068941 20200609 RGD DNA:SNP PMID:18785201|REF_RGD_ID:2301188 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008082 Plagiocephaly, Nonsynostotic ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9152842 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:736865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:10851026|PMID:11781872|PMID:15316116|PMID:15523615|PMID:16158432|PMID:16418739|PMID:16838304|PMID:17264867|PMID:17803937|PMID:18541976|PMID:20133659|PMID:22558232|PMID:24127277|PMID:24728327|PMID:25271085|PMID:25425289|PMID:25741868|PMID:26325558|PMID:26429889|PMID:26467025|PMID:28492532|PMID:7607643|PMID:7719345|PMID:7773284|PMID:7874170|PMID:7987400|PMID:8650126|PMID:8755573|PMID:8957519 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:736865 D RGD:9068941 20200609 RGD associated with Craniosynostoses;DNA:missense mutations:cds:p.C342R, p.S252W (human) PMID:27481450|REF_RGD_ID:12801473 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:2611 D RGD:9068941 20200609 RGD associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat) PMID:15065023|REF_RGD_ID:12801427 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:10581 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S250W (mouse) PMID:21538817|REF_RGD_ID:11251832 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169|PMID:16465081|PMID:18082115 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:17525745|PMID:18552176|PMID:22238366|PMID:23002168|PMID:23908597|PMID:25157968|PMID:26619011 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9009007 Tooth Abnormalities ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631169 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9256 colorectal cancer ISO RGD:736865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9296 cleft lip ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 8995041 Fgfr2 fibroblast growth factor receptor 2 gene DOID:9923 developmental coordination disorder ISO RGD:736865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16465081 8995078 Zbed4 zinc finger BED-type containing 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8995078 Zbed4 zinc finger BED-type containing 4 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1314283 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8995078 Zbed4 zinc finger BED-type containing 4 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8995078 Zbed4 zinc finger BED-type containing 4 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:28492532 8995078 Zbed4 zinc finger BED-type containing 4 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1314283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8995078 Zbed4 zinc finger BED-type containing 4 gene DOID:1059 intellectual disability ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8995078 Zbed4 zinc finger BED-type containing 4 gene DOID:630 genetic disease ISO RGD:1314283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995078 Zbed4 zinc finger BED-type containing 4 gene DOID:9007661 Dwarfism ISO RGD:1314283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8995095 Gpr83 G protein-coupled receptor 83 gene DOID:1059 intellectual disability ISO RGD:1352259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8995095 Gpr83 G protein-coupled receptor 83 gene DOID:630 genetic disease ISO RGD:1352259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995103 Uncx UNC homeobox gene DOID:630 genetic disease ISO RGD:1626690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995112 Gpr63 G protein-coupled receptor 63 gene DOID:630 genetic disease ISO RGD:1315091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995118 Slc35d3 solute carrier family 35 member D3 gene DOID:0111955 immunodeficiency 27A ISO RGD:1319766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 8995118 Slc35d3 solute carrier family 35 member D3 gene DOID:630 genetic disease ISO RGD:1319766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995118 Slc35d3 solute carrier family 35 member D3 gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1319766 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection PMID:26642243|PMID:28492532|PMID:29572183|PMID:8960473|PMID:9806040 8995118 Slc35d3 solute carrier family 35 member D3 gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1319766 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1312648 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:234 colon adenocarcinoma ISO RGD:1312648 D RGD:9068941 20211119 RGD PMID:6722784|REF_RGD_ID:5135276 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:2729 dyskeratosis congenita ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:16199547|PMID:17576681|PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:24115768|PMID:25741868|PMID:28492532|PMID:29111009|PMID:29481669|PMID:9536098 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1312648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:3905 lung carcinoma ISO RGD:1614154 D RGD:9068941 20211119 RGD PMID:6722784|REF_RGD_ID:5135276 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:4450 renal cell carcinoma ISO RGD:1312648 D RGD:9068941 20211119 RGD PMID:6722784|REF_RGD_ID:5135276 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:630 genetic disease ISO RGD:1312648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1304926 D RGD:9068941 20200609 RGD protein:increased activity:hepatoma (rat) PMID:6722784|REF_RGD_ID:5135276 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:684 hepatocellular carcinoma ISO RGD:1312648 D RGD:9068941 20211119 RGD protein:increased expression:liver PMID:6722784|REF_RGD_ID:5135276 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:9003371 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 ISO RGD:1312648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 PMID:22267198|PMID:22387016|PMID:24115768|PMID:25741868|PMID:28492532|PMID:29111009|PMID:29481669 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1312648 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive PMID:25741868 8995125 Pfas phosphoribosylformylglycinamidine synthase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1304926 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:3043317|REF_RGD_ID:5135485 8995172 Tssk3 testis specific serine kinase 3 gene DOID:630 genetic disease ISO RGD:1347200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995179 Ryr3 ryanodine receptor 3 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:69015 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:28492532 8995179 Ryr3 ryanodine receptor 3 gene DOID:0081352 congenital myopathy 20 ISO RGD:69015 D RGD:7240710 20230505 OMIM 8995179 Ryr3 ryanodine receptor 3 gene DOID:0081352 congenital myopathy 20 ISO RGD:69015 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Congenital myopathy 20 | ClinVar Annotator: match by term: RYR3-related condition PMID:25741868|PMID:28492532|PMID:29498452|PMID:31230720 8995179 Ryr3 ryanodine receptor 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 8995179 Ryr3 ryanodine receptor 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:69015 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy PMID:28492532 8995179 Ryr3 ryanodine receptor 3 gene DOID:10591 pre-eclampsia ISO RGD:69015 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8995179 Ryr3 ryanodine receptor 3 gene DOID:11714 gestational diabetes ISO RGD:69015 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8995179 Ryr3 ryanodine receptor 3 gene DOID:13938 amenorrhea ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8995179 Ryr3 ryanodine receptor 3 gene DOID:1826 epilepsy ISO RGD:69015 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 8995179 Ryr3 ryanodine receptor 3 gene DOID:2717 Bloom syndrome ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8995179 Ryr3 ryanodine receptor 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 8995179 Ryr3 ryanodine receptor 3 gene DOID:630 genetic disease ISO RGD:69015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10664581|PMID:25741868|PMID:28492532 8995179 Ryr3 ryanodine receptor 3 gene DOID:6432 pulmonary hypertension ISO RGD:68952 D RGD:9068941 20230525 RGD protein:altered localization: : PMID:24692174|REF_RGD_ID:329813077 8995179 Ryr3 ryanodine receptor 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:69015 D RGD:9068941 20230128 RGD DNA:SNP:3'UTR:rs1044129(human) PMID:26309413|REF_RGD_ID:155882454 8995179 Ryr3 ryanodine receptor 3 gene DOID:9001793 Generalized Epilepsy ISO RGD:69015 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:25262651|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29498452|PMID:29720203|PMID:31230720|PMID:34480478|PMID:9536098 8995179 Ryr3 ryanodine receptor 3 gene DOID:9006836 Contracture ISO RGD:69015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Contractures PMID:28492532|PMID:29498452|PMID:31230720 8995179 Ryr3 ryanodine receptor 3 gene DOID:9007330 Monomelic Amyotrophy ISO RGD:69015 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Monomelic amyotrophy PMID:28492532 8995179 Ryr3 ryanodine receptor 3 gene DOID:9008386 Hydrops Fetalis ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:25741868 8995179 Ryr3 ryanodine receptor 3 gene DOID:9256 colorectal cancer ISO RGD:69015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8995179 Ryr3 ryanodine receptor 3 gene DOID:9256 colorectal cancer ISO RGD:69015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 8995292 Adprs ADP-ribosylserine hydrolase gene DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ISO RGD:1319201 D RGD:7240710 20190315 OMIM 8995292 Adprs ADP-ribosylserine hydrolase gene DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures ISO RGD:1319201 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures PMID:25741868|PMID:30100084|PMID:30401461|PMID:34479984 8995292 Adprs ADP-ribosylserine hydrolase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8995292 Adprs ADP-ribosylserine hydrolase gene DOID:10003 sensorineural hearing loss ISO RGD:1319201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 8995292 Adprs ADP-ribosylserine hydrolase gene DOID:630 genetic disease ISO RGD:1319201 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995308 Eefsec eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:0111947 immunodeficiency 21 ISO RGD:1604801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 8995308 Eefsec eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1604801 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 8995308 Eefsec eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:630 genetic disease ISO RGD:1604801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995308 Eefsec eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1604801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532|PMID:31710708 8995308 Eefsec eukaryotic elongation factor, selenocysteine-tRNA specific gene DOID:9270 alkaptonuria ISO RGD:1604801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8995322 MEN1 menin 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:736443 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:19170121|REF_RGD_ID:2317294 8995322 Men1 menin 1 gene DOID:0050891 adrenal cortical adenoma ISO RGD:736443 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adrenocortical adenoma PMID:10647896 8995322 Men1 menin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8995322 Men1 menin 1 gene DOID:0112008 pituitary adenoma 5 ISO RGD:736443 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:25741868|PMID:28492532 8995322 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:7240710 20180130 OMIM 8995322 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10395230|PMID:10395246|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10664521|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10914986|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11034102|PMID:11102994|PMID:11134142|PMID:11181266|PMID:11216636|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11435815|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12016472|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12145286|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14648742|PMID:14678300|PMID:14686752|PMID:14985373|PMID:15044367|PMID:15082967|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15713725|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16594911|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17185897|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18729310|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19174080|PMID:19350320|PMID:19350420|PMID:19391077|PMID:19461164|PMID:19491073|PMID:19509103|PMID:19596265|PMID:19622622|PMID:19749796|PMID:19953642|PMID:20231234|PMID:20367983|PMID:20404349|PMID:20530095|PMID:20639902|PMID:20660572|PMID:20833329|PMID:20960638|PMID:21069576|PMID:21127195|PMID:21264250|PMID:21266030|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21454242|PMID:21464564|PMID:21521296|PMID:21627674|PMID:21652691|PMID:21655742|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21915802|PMID:21916912|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22281890|PMID:22327296|PMID:22470073|PMID:22522645|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23093699|PMID:23154721|PMID:23188049|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23580576|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24443791|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24756045|PMID:24915123|PMID:24920291|PMID:24997771|PMID:25291050|PMID:25309600|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26224587|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27311764|PMID:27572829|PMID:27846313|PMID:27904855|PMID:27986441|PMID:28203045|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28329921|PMID:28458907|PMID:28492532|PMID:28503312|PMID:2857681|PMID:28597079|PMID:28663159|PMID:28693130|PMID:28736585|PMID:28818680|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29066490|PMID:29097378|PMID:29122330|PMID:29174091|PMID:29174094|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29455199|PMID:29497973|PMID:29641532|PMID:29848728|PMID:29927501|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30374176|PMID:30630164|PMID:30755392|PMID:30795813|PMID:30820182 8995322 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:736443 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:30865533|PMID:30869828|PMID:31044390|PMID:31142320|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31592449|PMID:31658439|PMID:31737856|PMID:32130200|PMID:32190804|PMID:32299109|PMID:32430905|PMID:32761341|PMID:32901291|PMID:32909176|PMID:33101196|PMID:33125695|PMID:33471991|PMID:33632163|PMID:33840689|PMID:34183184|PMID:34313384|PMID:34313605|PMID:34326862|PMID:34515662|PMID:34556169|PMID:34711244|PMID:34939938|PMID:35264596|PMID:35268848|PMID:35407574|PMID:35941657|PMID:36654999|PMID:37351122|PMID:564891|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9564891|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709985|PMID:9792884|PMID:9820618|PMID:9832038|PMID:9843042|PMID:9888389|PMID:9893679|PMID:9929977|PMID:9935177|PMID:9989505 8995322 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 disease_progression ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exons PMID:19620250|REF_RGD_ID:2317293 8995322 Men1 menin 1 gene DOID:10017 multiple endocrine neoplasia type 1 no_association ISO RGD:3078 D RGD:9068941 20200609 RGD PMID:12036912|REF_RGD_ID:619590 8995322 Men1 menin 1 gene DOID:10579 leukodystrophy ISO RGD:736443 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:12652570|PMID:23321498|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392|PMID:30869828|PMID:31431315|PMID:32130200|PMID:32761341|PMID:34313384|PMID:34939938 8995322 Men1 menin 1 gene DOID:1059 intellectual disability ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8995322 Men1 menin 1 gene DOID:11202 primary hyperparathyroidism ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperparathyroidism PMID:18775714|PMID:22703879|PMID:24997771|PMID:25741868|PMID:26467025|PMID:28492532|PMID:564891|PMID:9215689 8995322 Men1 menin 1 gene DOID:11714 gestational diabetes ISO RGD:736444 D RGD:9068941 20200609 RGD PMID:17975067|REF_RGD_ID:2317319 8995322 Men1 menin 1 gene DOID:13543 hyperparathyroidism ISO RGD:736443 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10398160|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10715991|PMID:10759881|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10870030|PMID:10918183|PMID:10993647|PMID:11369988|PMID:11524904|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12150335|PMID:12166655|PMID:12324758|PMID:12652570|PMID:12746426|PMID:15205994|PMID:15254225|PMID:15281352|PMID:15464422|PMID:15635078|PMID:15670192|PMID:15754732|PMID:15887103|PMID:16322378|PMID:16563611|PMID:16595707|PMID:16699310|PMID:17065424|PMID:17235589|PMID:17555499|PMID:17590169|PMID:17623761|PMID:17879353|PMID:17953629|PMID:18221402|PMID:18549467|PMID:20833329|PMID:21521296|PMID:21819486|PMID:21849858|PMID:22024364|PMID:22187299|PMID:22703879|PMID:23093699|PMID:23321498|PMID:23334809|PMID:23933118|PMID:24033266|PMID:24728327|PMID:24997771|PMID:25309785|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26767918|PMID:27153395|PMID:28492532|PMID:28873162|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30630164|PMID:30755392|PMID:30820182|PMID:30869828|PMID:31431315|PMID:31737856|PMID:32130200|PMID:32761341|PMID:33471991|PMID:34313384|PMID:34556169|PMID:34939938|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9354421|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9683585|PMID:9709921|PMID:9820618|PMID:9888389|PMID:9935177 8995322 Men1 menin 1 gene DOID:169 neuroendocrine tumor ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21252315 8995322 Men1 menin 1 gene DOID:1793 pancreatic cancer ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653|PMID:21252315 8995322 Men1 menin 1 gene DOID:1793 pancreatic cancer ISO RGD:736443 D RGD:9068941 20200609 RGD associated with Neuroendocrine Tumors; protein:increased expression:multiple organs PMID:17278096|REF_RGD_ID:2317340 8995322 Men1 menin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8995322 Men1 menin 1 gene DOID:2394 ovarian cancer ISO RGD:736443 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:16563611|PMID:21819486|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 8995322 Men1 menin 1 gene DOID:2746 glycogen storage disease V ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8995322 Men1 menin 1 gene DOID:3070 high grade glioma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8995322 Men1 menin 1 gene DOID:3125 multiple endocrine neoplasia ISO RGD:736443 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Endocrine adenomatosis multiple | ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:10027401|PMID:10366412|PMID:10398160|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10664520|PMID:10715991|PMID:10759881|PMID:10762295|PMID:10856877|PMID:10870030|PMID:11369988|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11807402|PMID:11836268|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12746426|PMID:15205994|PMID:15254225|PMID:15281352|PMID:15331604|PMID:15464422|PMID:15754732|PMID:15887103|PMID:16199547|PMID:16449969|PMID:16595707|PMID:16699310|PMID:17235589|PMID:17590169|PMID:17623761|PMID:17853334|PMID:17953629|PMID:18221402|PMID:21521296|PMID:21819486|PMID:22470073|PMID:22666734|PMID:22703879|PMID:23334809|PMID:24218143|PMID:24728327|PMID:24997771|PMID:25309785|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27846313|PMID:28492532|PMID:29036195|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30869828|PMID:31737856|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9354421|PMID:9407947|PMID:9463336|PMID:9683585|PMID:9709921|PMID:9820618|PMID:9888389|PMID:9935177 8995322 Men1 menin 1 gene DOID:3315 lipoma ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lipoma, somatic PMID:10576763|PMID:10594843|PMID:10664520|PMID:10856877|PMID:12112656|PMID:14641000|PMID:15635078|PMID:17065424|PMID:17623761|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:20833329|PMID:23093699|PMID:24033266|PMID:24599222|PMID:24915123|PMID:25309785|PMID:25741868|PMID:26467025|PMID:27572829|PMID:28492532|PMID:28870973|PMID:28968916|PMID:29036195|PMID:30324798|PMID:30795813|PMID:9103196|PMID:9215690|PMID:9463336|PMID:9498491|PMID:9671267|PMID:9683585 8995322 Men1 menin 1 gene DOID:3892 insulinoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 8995322 Men1 menin 1 gene DOID:3892 insulinoma ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:20138042|REF_RGD_ID:2317288 8995322 Men1 menin 1 gene DOID:3892 insulinoma ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletions:exons PMID:19208834|REF_RGD_ID:2317310 8995322 Men1 menin 1 gene DOID:3892 insulinoma disease_progression ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:12941803|REF_RGD_ID:2317292 8995322 Men1 menin 1 gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:736443 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:25741868|PMID:26307114|PMID:28492532 8995322 Men1 menin 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747642 8995322 Men1 menin 1 gene DOID:5394 prolactinoma ISO RGD:736444 D RGD:9068941 20220825 MouseDO OMIM:600634 8995322 Men1 menin 1 gene DOID:5574 vipoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 8995322 Men1 menin 1 gene DOID:5577 gastrinoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 8995322 Men1 menin 1 gene DOID:5577 gastrinoma ISO RGD:736443 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:15944766|REF_RGD_ID:2317354 8995322 Men1 menin 1 gene DOID:6255 growth hormone secreting pituitary adenoma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Somatotroph adenoma PMID:30630164 8995322 Men1 menin 1 gene DOID:630 genetic disease ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8995322 Men1 menin 1 gene DOID:657 adenoma ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exons PMID:12917331|REF_RGD_ID:2317273 8995322 Men1 menin 1 gene DOID:7608 parathyroid adenoma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid adenoma, somatic PMID:12016472|PMID:20231234|PMID:28492532|PMID:9241276|PMID:9820618 8995322 Men1 menin 1 gene DOID:769 neuroblastoma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868 8995322 Men1 menin 1 gene DOID:7959 duodenal gastrinoma ISO RGD:736443 D RGD:9068941 20200609 RGD associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : PMID:17135306|REF_RGD_ID:2317341 8995322 Men1 menin 1 gene DOID:9000915 Angiofibroma ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angiofibroma, somatic PMID:9236523|PMID:9740255 8995322 Men1 menin 1 gene DOID:9002211 Hyperalgesia ISO RGD:3078 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy;protein:increased expression:spinal cord dorsal horn (rat) PMID:20369282|REF_RGD_ID:9589142 8995322 Men1 menin 1 gene DOID:9002234 Pituitary Neoplasms ISO RGD:736443 D RGD:9068941 20200609 RGD DNA, protein:mutations,polymorphisms, increased expression:Pituitary Gland PMID:12030908|REF_RGD_ID:2317360 8995322 Men1 menin 1 gene DOID:9002928 Colonic Neoplasms severity ISO RGD:3078 D RGD:9068941 20200609 RGD PMID:15054094|REF_RGD_ID:1304318 8995322 Men1 menin 1 gene DOID:9006608 Lung Carcinoid Tumors ISO RGD:736443 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung carcinoid tumor PMID:11303512|PMID:11579199|PMID:12112656|PMID:12213668|PMID:15240620|PMID:15635078|PMID:15670192|PMID:17065424|PMID:17853334|PMID:17879353|PMID:19041010|PMID:21340156|PMID:22470073|PMID:23321498|PMID:24915123|PMID:25291050|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29036195|PMID:30324798|PMID:30339208|PMID:9215689|PMID:9361035|PMID:9463336 8995322 Men1 menin 1 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:736443 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial isolated hyperparathyroidism | ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:15254225|PMID:15292357|PMID:17576681|PMID:17623761|PMID:21819486|PMID:25741868|PMID:28492532|PMID:29416715|PMID:9536098|PMID:9683585 8995322 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10395246|PMID:10398160|PMID:10439966|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11134142|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15887103|PMID:16199547|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18221402|PMID:18549467|PMID:18753103|PMID:18753104|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21521296|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23093699|PMID:23154721|PMID:23321498|PMID:23565397|PMID:23648481|PMID:23933118|PMID:24033266|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25824098|PMID:26239674|PMID:26332594|PMID:26467025|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27572829|PMID:27846313|PMID:28166811|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28881068|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29097378|PMID:29239255|PMID:29264567|PMID:29497973|PMID:29641532|PMID:30324798|PMID:30339208|PMID:30795813|PMID:30820182|PMID:30869828|PMID:31159747|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:6108714|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9554741|PMID:9671267|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9935177|PMID:9989505 8995322 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10398160|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10870030|PMID:10918183|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11134142|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18221402|PMID:18549467|PMID:18753104|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21521296|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23093699|PMID:23154721|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23933118|PMID:24033266|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25824098|PMID:26239674|PMID:26307114|PMID:26332594|PMID:26467025|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27572829|PMID:28492532|PMID:2857681|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29097378|PMID:29264567|PMID:29497973|PMID:29641532|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30869828|PMID:31159747|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32761341|PMID:33471991|PMID:34313384|PMID:6108714|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9554741|PMID:9671267|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709985|PMID:9820618|PMID:9888389|PMID:9935177|PMID:9989505 8995322 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:10366412|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10534569|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11134142|PMID:11221882|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12112656|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18549467|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:28166811|PMID:28238068|PMID:28321559|PMID:28492532|PMID:2857681|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29192238|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32761341|PMID:32901291|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34515662|PMID:35941657|PMID:6108714|PMID:6837595|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9671267|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 8995322 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11134142|PMID:11181266|PMID:11221882|PMID:11302744|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12145286|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32130200|PMID:32241160|PMID:32761341|PMID:32901291|PMID:32909176|PMID:32937789|PMID:33101196|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34515662|PMID:34939938|PMID:35268848|PMID:35323929|PMID:35941657|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038 8995322 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 8995322 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 8995322 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10395246|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11134142|PMID:11181266|PMID:11221882|PMID:11302744|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12145286|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16794390|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21655742|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:27854218|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28329921|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30032405|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32130200|PMID:32241160|PMID:32761341|PMID:32901291|PMID:32909176|PMID:32937789|PMID:33101196|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34313605|PMID:34515662|PMID:34939938|PMID:35268848|PMID:35323929|PMID:35407574|PMID:35941657|PMID:36654999|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9666051|PMID:9671073 8995322 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10395246|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11134142|PMID:11181266|PMID:11221882|PMID:11302744|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12145286|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16794390|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21655742|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28329921|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29122330|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30032405|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31737856|PMID:32130200|PMID:32241160|PMID:32761341|PMID:32901291|PMID:32909176|PMID:32937789|PMID:33101196|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34313605|PMID:34515662|PMID:34939938|PMID:35268848|PMID:35323929|PMID:35407574|PMID:35941657|PMID:36654999|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9666051|PMID:9671073 8995322 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10395246|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11134142|PMID:11181266|PMID:11221882|PMID:11302744|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12145286|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16794390|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21655742|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:27986441|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28329921|PMID:28492532|PMID:2857681|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29122330|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30032405|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31142320|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31592449|PMID:31737856|PMID:32130200|PMID:32241160|PMID:32430905|PMID:32761341|PMID:32901291|PMID:32909176|PMID:32937789|PMID:33101196|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34313605|PMID:34515662|PMID:34556169|PMID:34939938|PMID:35268848|PMID:35323929|PMID:35407574|PMID:35941657|PMID:36654999|PMID:37351122|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035|PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491 8995322 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 8995322 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10022445|PMID:10027401|PMID:10090472|PMID:10229909|PMID:103196|PMID:10366412|PMID:10395246|PMID:10398160|PMID:10424788|PMID:10435055|PMID:10439966|PMID:10534569|PMID:10548885|PMID:10576763|PMID:10594843|PMID:10598193|PMID:10612827|PMID:10617276|PMID:10634374|PMID:10634422|PMID:10647896|PMID:10660339|PMID:10664520|PMID:10715991|PMID:10730900|PMID:10759881|PMID:10762295|PMID:10843194|PMID:10849016|PMID:10856877|PMID:10861493|PMID:10870030|PMID:10918183|PMID:10931102|PMID:10980535|PMID:10993646|PMID:10993647|PMID:11019489|PMID:11033760|PMID:11134142|PMID:11181266|PMID:11221882|PMID:11302744|PMID:11303512|PMID:11369988|PMID:11454510|PMID:11524904|PMID:11578300|PMID:11579199|PMID:11765051|PMID:11807402|PMID:11836268|PMID:11966739|PMID:12016470|PMID:12049533|PMID:12050235|PMID:12108687|PMID:12112656|PMID:12145286|PMID:12150335|PMID:12166655|PMID:12213668|PMID:12324758|PMID:12368203|PMID:12509449|PMID:12652570|PMID:12699448|PMID:12746426|PMID:12791038|PMID:12807514|PMID:14508515|PMID:14641000|PMID:14678300|PMID:14985373|PMID:15044367|PMID:15205994|PMID:15240620|PMID:15254225|PMID:15281352|PMID:15292304|PMID:15292357|PMID:15331604|PMID:15464422|PMID:15522929|PMID:15635078|PMID:15670192|PMID:15714081|PMID:15717658|PMID:15730416|PMID:15754732|PMID:15870131|PMID:15887103|PMID:16199547|PMID:16322378|PMID:16430712|PMID:16449969|PMID:16484744|PMID:16563611|PMID:16595707|PMID:16699310|PMID:16794390|PMID:16840830|PMID:17065424|PMID:17158764|PMID:17194968|PMID:17235589|PMID:17388795|PMID:17555499|PMID:17576681|PMID:17590169|PMID:17623761|PMID:17711922|PMID:17766710|PMID:17853334|PMID:17879353|PMID:17953629|PMID:18045958|PMID:18084346|PMID:18206547|PMID:18221402|PMID:18485119|PMID:18549467|PMID:18753103|PMID:18753104|PMID:18775714|PMID:19041010|PMID:19068082|PMID:19074834|PMID:19461164|PMID:19491073|PMID:19509103|PMID:20231234|PMID:20660572|PMID:20833329|PMID:21127195|PMID:21264250|PMID:21340156|PMID:21340165|PMID:21369528|PMID:21521296|PMID:21655742|PMID:21678021|PMID:21757704|PMID:21819486|PMID:21849858|PMID:21917868|PMID:22024364|PMID:22026581|PMID:22090276|PMID:22187299|PMID:22275377|PMID:22327296|PMID:22470073|PMID:22549346|PMID:22577108|PMID:22666734|PMID:22703879|PMID:22936661|PMID:22995991|PMID:23052745|PMID:23056405|PMID:23093699|PMID:23154721|PMID:23244744|PMID:23321498|PMID:23334809|PMID:23565397|PMID:23648481|PMID:23778871|PMID:23933118|PMID:24033266|PMID:24183932|PMID:24218143|PMID:24472025|PMID:24599222|PMID:24635524|PMID:24709560|PMID:24728327|PMID:24915123|PMID:24997771|PMID:25291050|PMID:25309785|PMID:25525159|PMID:25527055|PMID:25637381|PMID:25733923|PMID:25741868|PMID:25824098|PMID:26180530|PMID:26239674|PMID:26288158|PMID:26307114|PMID:26332594|PMID:26424307|PMID:26467025|PMID:26515642|PMID:26580448|PMID:26767918|PMID:26905068|PMID:27153395|PMID:27212590|PMID:27311764|PMID:27572829|PMID:27846313|PMID:27986441|PMID:28238068|PMID:28298337|PMID:28321559|PMID:28329921|PMID:28492532|PMID:2857681|PMID:28597079|PMID:28693130|PMID:28736585|PMID:28870973|PMID:28873162|PMID:28881068|PMID:28938468|PMID:28940393|PMID:28968916|PMID:29036195|PMID:29039523|PMID:29097378|PMID:29122330|PMID:29192238|PMID:29239255|PMID:29264567|PMID:29284071|PMID:29416715|PMID:29497973|PMID:29641532|PMID:29927501|PMID:30032405|PMID:30093976|PMID:30324798|PMID:30339208|PMID:30364322|PMID:30755392|PMID:30795813|PMID:30820182|PMID:30865533|PMID:30869828|PMID:31044390|PMID:31142320|PMID:31159747|PMID:31249555|PMID:31263451|PMID:31275768|PMID:31431315|PMID:31482957|PMID:31592449|PMID:31658439|PMID:31737856|PMID:32130200|PMID:32241160|PMID:32430905|PMID:32761341|PMID:32901291|PMID:32909176|PMID:32937789|PMID:33101196|PMID:33125695|PMID:33471991|PMID:34183184|PMID:34313384|PMID:34313605|PMID:34326862|PMID:34515662|PMID:34556169|PMID:34939938|PMID:35268848|PMID:35323929|PMID:35407574|PMID:35941657|PMID:36654999|PMID:37351122|PMID:6108714|PMID:6837595|PMID:9064485|PMID:9103196|PMID:9215689|PMID:9215690|PMID:9241276|PMID:9329390|PMID:9354421|PMID:9361035 8995322 Men1 menin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736443 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9407947|PMID:9439676|PMID:9458074|PMID:9463336|PMID:9498491|PMID:9506756|PMID:9536098|PMID:9540988|PMID:9554741|PMID:9666051|PMID:9671073|PMID:9671267|PMID:9681840|PMID:9681842|PMID:9683585|PMID:9709921|PMID:9709922|PMID:9709976|PMID:9709985|PMID:9820618|PMID:9832038|PMID:9888389|PMID:9893679|PMID:9935177|PMID:9989505 8995322 Men1 menin 1 gene DOID:9007787 Carcinoid Tumor ISO RGD:736443 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human) PMID:16465412|REF_RGD_ID:2317351 8995322 Men1 menin 1 gene DOID:9007821 Glucagonoma ISO RGD:736443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961653 8995322 Men1 menin 1 gene DOID:9007821 Glucagonoma ISO RGD:736444 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:20138042|REF_RGD_ID:2317288 8995322 Men1 menin 1 gene DOID:9008605 Hyperparathyroidism 3 ISO RGD:736443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial isolated hyperparathyroidism PMID:17623761|PMID:21819486|PMID:25741868|PMID:28492532 8995322 Men1 menin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:25741868 8995336 Asph aspartate beta-hydroxylase gene DOID:0050834 CHARGE syndrome ISO RGD:1323751 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:18413373|PMID:19772954|PMID:22258531|PMID:22902603|PMID:28492532 8995336 Asph aspartate beta-hydroxylase gene DOID:4947 cholangiocarcinoma ISO RGD:1323751 D RGD:9068941 20200609 RGD PMID:21898484|REF_RGD_ID:6902945 8995336 Asph aspartate beta-hydroxylase gene DOID:630 genetic disease ISO RGD:1323751 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8995336 Asph aspartate beta-hydroxylase gene DOID:8545 malignant hyperthermia ISO RGD:1323751 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Exercise-induced malignant hyperthermia | ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia 8995336 Asph aspartate beta-hydroxylase gene DOID:9000195 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism ISO RGD:1323751 D RGD:7240710 20180130 OMIM 8995336 Asph aspartate beta-hydroxylase gene DOID:9000195 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism ISO RGD:1323751 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | ClinVar Annotator: match by term: TRABOULSI SYNDROME PMID:11241487|PMID:23687502|PMID:24768550|PMID:25741868|PMID:28492532|PMID:30194805|PMID:31274573|PMID:33217155 8995336 Asph aspartate beta-hydroxylase gene DOID:9002936 Bile Duct Neoplasms ISO RGD:1323751 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:16673309|REF_RGD_ID:2325824 8995376 Faf1 Fas associated factor 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:733981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma 8995376 Faf1 Fas associated factor 1 gene DOID:630 genetic disease ISO RGD:733981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995399 Cdh7 cadherin 7 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1315712 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8995399 Cdh7 cadherin 7 gene DOID:630 genetic disease ISO RGD:1315712 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995399 Cdh7 cadherin 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8995399 Cdh7 cadherin 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1315712 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16015041 8995426 Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1605075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 8995426 Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:630 genetic disease ISO RGD:1605075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995426 Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1605075 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:0070454 hereditary spastic paraplegia 70 ISO RGD:1313280 D RGD:7240710 20230505 OMIM 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:0070454 hereditary spastic paraplegia 70 ISO RGD:1313280 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive PMID:24482476|PMID:25741868|PMID:28492532|PMID:28708278|PMID:34585293 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1313280 D RGD:7240710 20180130 OMIM 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1313280 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2u PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23729695|PMID:24103465|PMID:24354524|PMID:24482476|PMID:25640679|PMID:25741868|PMID:25913036|PMID:28148924|PMID:28492532|PMID:28708278|PMID:29582526|PMID:29655802|PMID:29775242|PMID:30723866|PMID:31356216|PMID:32376792|PMID:33909043|PMID:34169998|PMID:34298581|PMID:34585293|PMID:34813128|PMID:35723632|PMID:9536098 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1313280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:23729695|PMID:24103465|PMID:25741868|PMID:25913036|PMID:28492532|PMID:29655802|PMID:31356216|PMID:32376792 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1313280 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:23729695|PMID:24103465|PMID:25741868|PMID:25913036|PMID:28492532|PMID:29655802|PMID:31356216|PMID:32376792|PMID:34585293 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1313280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:25913036 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1313280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:607 paraplegia ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1313280 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:24103465|PMID:24482476|PMID:25741868|PMID:25913036|PMID:28492532|PMID:28708278|PMID:29582526|PMID:32376792|PMID:34813128|PMID:9536098 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:6846 familial melanoma ISO RGD:1313280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1313280 D RGD:7240710 20181114 OMIM 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1313280 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23729695|PMID:24103465|PMID:24482476|PMID:25640679|PMID:25741868|PMID:25913036|PMID:28148924|PMID:28492532|PMID:28708278|PMID:29582526|PMID:29655802|PMID:29775242|PMID:30723866|PMID:32376792|PMID:33909043|PMID:34169998|PMID:34298581|PMID:34585293|PMID:34813128|PMID:35723632|PMID:9536098 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:9004318 Nonphotosensitive Trichothiodystrophy 9 ISO RGD:1313280 D RGD:7240710 20220112 OMIM 8995447 Mars1 methionyl-tRNA synthetase 1 gene DOID:9004318 Nonphotosensitive Trichothiodystrophy 9 ISO RGD:1313280 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 9, nonphotosensitive PMID:28492532|PMID:33909043 8995472 Slc25a36 solute carrier family 25 member 36 gene DOID:0081328 familial hyperinsulinemic hypoglycemia 8 ISO RGD:1605658 D RGD:7240710 20230215 OMIM 8995472 Slc25a36 solute carrier family 25 member 36 gene DOID:0081328 familial hyperinsulinemic hypoglycemia 8 ISO RGD:1605658 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 8 PMID:34576089|PMID:34971397|PMID:36695547 8995472 Slc25a36 solute carrier family 25 member 36 gene DOID:630 genetic disease ISO RGD:1605658 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995484 Znf511 zinc finger protein 511 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1318442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8995484 Znf511 zinc finger protein 511 gene DOID:630 genetic disease ISO RGD:1318442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995498 Klhl24 kelch like family member 24 gene DOID:0080511 epidermolysis bullosa simplex generalized type ISO RGD:1603221 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:25741868|PMID:27798626|PMID:27889062|PMID:28492532|PMID:29779254|PMID:30120936|PMID:30226531|PMID:30715372|PMID:34292882|PMID:34740256|PMID:35975634 8995498 Klhl24 kelch like family member 24 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1603221 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8995498 Klhl24 kelch like family member 24 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1603221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8995498 Klhl24 kelch like family member 24 gene DOID:0111546 Currarino syndrome ISO RGD:1603221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8995498 Klhl24 kelch like family member 24 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1603221 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 8995498 Klhl24 kelch like family member 24 gene DOID:630 genetic disease ISO RGD:1603221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8995498 Klhl24 kelch like family member 24 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1603221 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:25741868|PMID:27798626|PMID:27889062|PMID:28492532|PMID:29779254|PMID:30120936|PMID:30226531|PMID:30715372|PMID:34292882|PMID:34740256|PMID:35975634 8995498 Klhl24 kelch like family member 24 gene DOID:9006455 Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss ISO RGD:1603221 D RGD:7240710 20190315 OMIM 8995498 Klhl24 kelch like family member 24 gene DOID:9006455 Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss ISO RGD:1603221 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss PMID:25741868|PMID:27798626|PMID:27889062|PMID:28492532|PMID:29779254|PMID:30120936|PMID:30226531|PMID:30715372|PMID:31649980|PMID:34292882|PMID:34740256|PMID:35975634 8995498 Klhl24 kelch like family member 24 gene DOID:9009148 Hypertrophic Cardiomyopathy 29 ISO RGD:1603221 D RGD:7240710 20230215 OMIM 8995498 Klhl24 kelch like family member 24 gene DOID:9009148 Hypertrophic Cardiomyopathy 29 ISO RGD:1603221 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies PMID:30715372 8995513 P2rx4 purinergic receptor P2X 4 gene DOID:0080600 COVID-19 ISO RGD:732285 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8995513 P2rx4 purinergic receptor P2X 4 gene DOID:1826 epilepsy ISO RGD:732285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12941474 8995513 P2rx4 purinergic receptor P2X 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:732285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19084381 8995513 P2rx4 purinergic receptor P2X 4 gene DOID:6000 congestive heart failure ISO RGD:62073 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 8995513 P2rx4 purinergic receptor P2X 4 gene DOID:630 genetic disease ISO RGD:732285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995513 P2rx4 purinergic receptor P2X 4 gene DOID:9001240 Peripheral Nerve Injuries sexual_dimorphism ISO RGD:62073 D RGD:9068941 20210122 RGD in male rat; protein:increased expression:microglia PMID:29927790|REF_RGD_ID:40924654 8995513 P2rx4 purinergic receptor P2X 4 gene DOID:9002211 Hyperalgesia treatment ISO RGD:62073 D RGD:9068941 20210122 RGD associated with Peripheral Nerve Injuries; PMID:29927790|REF_RGD_ID:40924654 8995528 Znf408 zinc finger protein 408 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1315189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy 8995528 Znf408 zinc finger protein 408 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1315189 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8995528 Znf408 zinc finger protein 408 gene DOID:0110395 retinitis pigmentosa 72 ISO RGD:1315189 D RGD:7240710 20180130 OMIM 8995528 Znf408 zinc finger protein 408 gene DOID:0110395 retinitis pigmentosa 72 ISO RGD:1315189 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 72 PMID:25741868|PMID:25882705|PMID:26167114|PMID:28492532 8995528 Znf408 zinc finger protein 408 gene DOID:0111410 exudative vitreoretinopathy 6 ISO RGD:1315189 D RGD:7240710 20180130 OMIM 8995528 Znf408 zinc finger protein 408 gene DOID:0111410 exudative vitreoretinopathy 6 ISO RGD:1315189 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 PMID:23716654|PMID:25741868|PMID:25882705|PMID:26167114|PMID:28492532|PMID:29982478|PMID:6897033 8995528 Znf408 zinc finger protein 408 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1315189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:23716654|PMID:27316669|PMID:28492532 8995528 Znf408 zinc finger protein 408 gene DOID:10584 retinitis pigmentosa ISO RGD:1315189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:28095122 8995528 Znf408 zinc finger protein 408 gene DOID:1059 intellectual disability ISO RGD:1315189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8995528 Znf408 zinc finger protein 408 gene DOID:630 genetic disease ISO RGD:1315189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8995528 Znf408 zinc finger protein 408 gene DOID:8501 fundus dystrophy ISO RGD:1315189 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:25882705|PMID:26167114|PMID:28492532 8995536 Slc39a5 solute carrier family 39 member 5 gene DOID:630 genetic disease ISO RGD:1321159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995536 Slc39a5 solute carrier family 39 member 5 gene DOID:9008442 Myopia 24, Autosomal Dominant ISO RGD:1321159 D RGD:7240710 20180130 OMIM 8995536 Slc39a5 solute carrier family 39 member 5 gene DOID:9008442 Myopia 24, Autosomal Dominant ISO RGD:1321159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 24, autosomal dominant PMID:24891338|PMID:25741868 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:19169412|PMID:25741868|PMID:28492532 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1318784 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen PMID:12140190|PMID:1258954|PMID:15976030|PMID:16199547|PMID:17167404|PMID:17576681|PMID:18554571|PMID:18648522|PMID:19169412|PMID:19753314|PMID:20361016|PMID:21670352|PMID:22142163|PMID:22605927|PMID:22892318|PMID:23112574|PMID:23127749|PMID:23143909|PMID:23742260|PMID:24088041|PMID:24531000|PMID:25097241|PMID:25412400|PMID:25741868|PMID:26583794|PMID:26633545|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29170418|PMID:29450879|PMID:30181649|PMID:30653986|PMID:31106028|PMID:31992737|PMID:32052405|PMID:32118495|PMID:32703043|PMID:32830442|PMID:32996714|PMID:33203948|PMID:9536098 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:0060869 late-onset retinal degeneration ISO RGD:1318784 D RGD:7240710 20180130 OMIM 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:0060869 late-onset retinal degeneration ISO RGD:1318784 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration | ClinVar Annotator: match by term: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:18648522|PMID:19169412|PMID:20361016|PMID:22142163|PMID:22892318|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28939808|PMID:29847639|PMID:33203948|PMID:33949280 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:0080634 nanophthalmos ISO RGD:1318784 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nanophthalmia PMID:25412400|PMID:25741868|PMID:26583794|PMID:28492532|PMID:29170418|PMID:30181649 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:0080690 RASopathy ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:0111971 immunodeficiency 18 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:0111972 immunodeficiency 19 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:0111973 immunodeficiency 17 ISO RGD:1318784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:110 lens disease ISO RGD:1318784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123441 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:4448 macular degeneration ISO RGD:1318784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123441 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:5419 schizophrenia ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:630 genetic disease ISO RGD:1318784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:8466 retinal degeneration ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:18648522|PMID:19169412|PMID:22892318|PMID:24531000|PMID:25741868|PMID:28492532 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:8501 fundus dystrophy ISO RGD:1318784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12140190|PMID:12944416|PMID:15976030|PMID:16199547|PMID:20361016|PMID:22142163|PMID:23289492|PMID:24531000|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28939808|PMID:29847639|PMID:31992737|PMID:32036094 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:9002122 Nanophthalmos 2 ISO RGD:1318784 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nanophthalmos 2 PMID:12140190|PMID:1258954|PMID:15976030|PMID:17167404|PMID:18554571|PMID:19753314|PMID:20361016|PMID:22605927|PMID:23112574|PMID:23143909|PMID:25741868|PMID:28492532|PMID:32996714 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8995558 C1qtnf5 C1q and TNF related 5 gene DOID:9007661 Dwarfism ISO RGD:1318784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8995565 Coro6 coronin 6 gene DOID:0080600 COVID-19 ISO RGD:1354094 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8995565 Coro6 coronin 6 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1354094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 8995565 Coro6 coronin 6 gene DOID:3007 breast ductal carcinoma ISO RGD:1354094 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 8995565 Coro6 coronin 6 gene DOID:630 genetic disease ISO RGD:1354094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995596 Eapp E2F associated phosphoprotein gene DOID:630 genetic disease ISO RGD:1320061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995596 Eapp E2F associated phosphoprotein gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1320061 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8995606 LOC102007781 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:0060399 chromosome 16p12.1 deletion syndrome ISO RGD:1352193 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb PMID:25741868 8995606 LOC102007781 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:1352193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8995606 LOC102007781 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1352193 D RGD:7240710 20180130 OMIM 8995606 LOC102007781 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:0080114 mitochondrial complex III deficiency nuclear type 5 ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 5 PMID:23281071|PMID:25741868|PMID:28275242|PMID:28492532 8995606 LOC102007781 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:0110480 autosomal recessive nonsyndromic deafness 22 ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 22 PMID:25741868|PMID:33492714 8995606 LOC102007781 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:12849 autistic disorder ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8995606 LOC102007781 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1352193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8995606 LOC102007781 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1352193 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8995606 LOC102007781 cytochrome b-c1 complex subunit 2, mitochondrial gene DOID:9970 obesity ISO RGD:1352193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732948 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:732948 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:0111996 immunodeficiency 51 ISO RGD:732948 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1059 intellectual disability ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:11372 megacolon ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:732948 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:12849 autistic disorder ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1682 congenital heart disease ISO RGD:732948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10024240 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:1826 epilepsy ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:5419 schizophrenia ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:630 genetic disease ISO RGD:732948 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:732948 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 8995624 Ufd1 ubiquitin recognition factor in ER associated degradation 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732948 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10024240 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050427 xeroderma pigmentosum ISO RGD:1319264 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:10447254|PMID:11285194|PMID:11319176|PMID:11335038|PMID:11443545|PMID:11709541|PMID:11710928|PMID:11734544|PMID:12820975|PMID:15982307|PMID:16111488|PMID:16199547|PMID:16707649|PMID:17403617|PMID:17576681|PMID:18191955|PMID:18470933|PMID:18510925|PMID:18578568|PMID:18637129|PMID:19085937|PMID:19934020|PMID:20633800|PMID:22234153|PMID:22826098|PMID:23221806|PMID:23232694|PMID:23382212|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24448499|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26467025|PMID:26556299|PMID:26577220|PMID:26689913|PMID:26884178|PMID:26957611|PMID:27004399|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28492532|PMID:29178624|PMID:29478780|PMID:29607586|PMID:29625052|PMID:29754767|PMID:30136158|PMID:30919937|PMID:31937902|PMID:31980526|PMID:32830346|PMID:32974964|PMID:33095795|PMID:33199492|PMID:34308104|PMID:35477182|PMID:36033485|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9758621 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050908 myelodysplastic syndrome ISO RGD:1319264 D RGD:9068941 20200609 RGD PMID:25154760|REF_RGD_ID:11252197 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.K751Q (rs13181) (human) PMID:26482462|REF_RGD_ID:11075607 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0060655 autosomal recessive congenital ichthyosis ISO RGD:1319264 D RGD:9068941 20200609 RGD trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P PMID:9195225|REF_RGD_ID:1601069 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1319264 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:11335038|PMID:11709541|PMID:19085937|PMID:19934020|PMID:20633800|PMID:24728327|PMID:25741868|PMID:27504877|PMID:28492532|PMID:9238033 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080911 cerebrooculofacioskeletal syndrome 1 ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:24728327|PMID:25741868|PMID:28492532 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1319264 D RGD:7240710 20180130 OMIM 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0080912 cerebrooculofacioskeletal syndrome 2 ISO RGD:1319264 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 PMID:10447254|PMID:11156600|PMID:11242112|PMID:11335038|PMID:11443545|PMID:11585917|PMID:11709541|PMID:11710928|PMID:11734544|PMID:12116233|PMID:12820975|PMID:15494306|PMID:15534626|PMID:15982307|PMID:16054878|PMID:16135823|PMID:16199547|PMID:17576681|PMID:18470933|PMID:18510924|PMID:18510925|PMID:18578568|PMID:18637129|PMID:18709642|PMID:19085937|PMID:19434073|PMID:19470925|PMID:19931493|PMID:19934020|PMID:20633800|PMID:20944642|PMID:22234153|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23382212|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26556299|PMID:26577220|PMID:26884178|PMID:26957611|PMID:26993158|PMID:27004399|PMID:27396511|PMID:27504877|PMID:27607234|PMID:28492532|PMID:28749383|PMID:29141312|PMID:29169765|PMID:29478780|PMID:29607586|PMID:29754767|PMID:30919937|PMID:31282071|PMID:31803976|PMID:31937902|PMID:32047639|PMID:32191290|PMID:32830346|PMID:32974964|PMID:33095795|PMID:33199492|PMID:34308104|PMID:35477182|PMID:36033485|PMID:7585650|PMID:7825573|PMID:7920640|PMID:8571952|PMID:9101292|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0110698 hypotrichosis 1 ISO RGD:1319264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypotrichosis simplex PMID:19931493|PMID:20944642|PMID:23039039|PMID:23232694|PMID:24033266|PMID:25620205|PMID:25741868|PMID:28492532|PMID:31282071|PMID:31803976|PMID:7920640|PMID:8571952|PMID:9238033|PMID:9651581 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1319264 D RGD:7240710 20180130 OMIM 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1319264 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D PMID:11156600|PMID:11285194|PMID:11319176|PMID:11335038|PMID:11443545|PMID:11709541|PMID:11710928|PMID:11734544|PMID:12458209|PMID:12820975|PMID:15494306|PMID:15534626|PMID:15982307|PMID:16054878|PMID:16111488|PMID:16199547|PMID:16707649|PMID:17403617|PMID:17576681|PMID:18191955|PMID:18510924|PMID:18510925|PMID:18637129|PMID:18709642|PMID:19085937|PMID:19434073|PMID:19470925|PMID:19931493|PMID:19934020|PMID:20633800|PMID:20944642|PMID:22234153|PMID:22572993|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23276657|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24728327|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26884178|PMID:26993158|PMID:27004399|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28376765|PMID:28492532|PMID:29169765|PMID:29178624|PMID:29478780|PMID:29522548|PMID:29607586|PMID:29754767|PMID:30136158|PMID:31282071|PMID:31803976|PMID:31937902|PMID:31980526|PMID:32047639|PMID:32830346|PMID:33095795|PMID:34308104|PMID:35477182|PMID:36033485|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9101292|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111866 trichothiodystrophy ISO RGD:1319264 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: PIBIDS syndrome | ClinVar Annotator: match by term: Trichothiodystrophy PMID:11335038|PMID:11709541|PMID:15982307|PMID:19085937|PMID:19931493|PMID:19934020|PMID:20633800|PMID:20944642|PMID:22234153|PMID:23039039|PMID:23221806|PMID:23232694|PMID:24033266|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:31282071|PMID:31803976|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1319264 D RGD:7240710 20180130 OMIM 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:0111873 photosensitive trichothiodystrophy 1 ISO RGD:1319264 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive PMID:11242112|PMID:11335038|PMID:11443545|PMID:11585917|PMID:11709541|PMID:11734544|PMID:12820975|PMID:15982307|PMID:16199547|PMID:17576681|PMID:18470933|PMID:19085937|PMID:19434073|PMID:19470925|PMID:19931493|PMID:19934020|PMID:20633800|PMID:20944642|PMID:22234153|PMID:22826098|PMID:23039039|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24033266|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25431422|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26344056|PMID:26577220|PMID:26884178|PMID:27085493|PMID:27396511|PMID:27504877|PMID:28492532|PMID:29607586|PMID:29625052|PMID:29754767|PMID:30136158|PMID:31282071|PMID:31803976|PMID:31980526|PMID:34308104|PMID:35477182|PMID:36033485|PMID:36259739|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9536098|PMID:9651581|PMID:9758621 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10283 prostate cancer susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D312N (human) PMID:17695467|REF_RGD_ID:5688739 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10283 prostate cancer susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R156R(human) PMID:24649009|REF_RGD_ID:8657136 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10534 stomach cancer ameliorates ISO RGD:1319264 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10534 stomach cancer disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.K751Q (2251A>C) (rs13181) (human) PMID:26499900|REF_RGD_ID:11340202 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10534 stomach cancer exacerbates ISO RGD:1319264 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs50871) (human) PMID:27340861|REF_RGD_ID:155260339 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10579 leukodystrophy ISO RGD:1319264 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:11335038|PMID:11709541|PMID:19085937|PMID:19934020|PMID:20633800|PMID:24728327|PMID:25741868|PMID:27504877|PMID:28492532|PMID:9238033 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10581 metachromatic leukodystrophy ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:11335038|PMID:11709541|PMID:19085937|PMID:19934020|PMID:20633800|PMID:24728327|PMID:25741868|PMID:27504877|PMID:28492532|PMID:9238033 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:10652 Alzheimer's disease ISO RGD:1319264 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:9714461|REF_RGD_ID:5688738 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:11054 urinary bladder cancer ISO RGD:1319264 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:11335038|PMID:19085937|PMID:19934020|PMID:28492532|PMID:9238033 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD PMID:25316812|REF_RGD_ID:11252208 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:11088 asphyxia neonatorum ISO RGD:1309109 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:9763211|REF_RGD_ID:2302855 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:12603 acute leukemia ISO RGD:1319264 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified PMID:15982307|PMID:22234153|PMID:23221806|PMID:23232694|PMID:24728327|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:7585650|PMID:8571952|PMID:9195225|PMID:9238033 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:12689 acoustic neuroma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D312N (rs1799793) (human) PMID:20150366|REF_RGD_ID:5688735 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:14250 Down syndrome ISO RGD:1319264 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:9714461|REF_RGD_ID:5688738 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1612 breast cancer susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:haplotype:cds:6540G>A(D312N),18880A>C(p.K751Q)(human) PMID:15598761|REF_RGD_ID:12880387 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1749 squamous cell carcinoma ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17687452 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1793 pancreatic cancer ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA,protein:SNPs:exons:rs1799793,rs1052559 PMID:16458430|REF_RGD_ID:2317228 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1793 pancreatic cancer ISO RGD:1319264 D RGD:9068941 20200609 RGD pancreatic adenocarcinoma;DNA:SNPs: :rs1799793,rs1052555(human) PMID:18544627|REF_RGD_ID:2317223 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1793 pancreatic cancer treatment ISO RGD:1319264 D RGD:9068941 20200609 RGD PMID:21404106|REF_RGD_ID:11252206 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:1909 melanoma disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K751Q(human) PMID:21390047|REF_RGD_ID:12880434 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2152 ovary epithelial cancer severity ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D312N (rs1799793) (human) PMID:19786980|REF_RGD_ID:5688741 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2394 ovarian cancer ISO RGD:1319264 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11242112|PMID:11585917|PMID:12820975|PMID:24728327|PMID:25431422|PMID:25741868|PMID:26344056|PMID:28492532|PMID:8571952|PMID:9238033 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2960 photosensitive trichothiodystrophy ISO RGD:1319264 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS PMID:11335038|PMID:11709541|PMID:15982307|PMID:19085937|PMID:19931493|PMID:19934020|PMID:20633800|PMID:20944642|PMID:22234153|PMID:23039039|PMID:23221806|PMID:23232694|PMID:24033266|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:31282071|PMID:31803976|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:2962 Cockayne syndrome ISO RGD:1319265 D RGD:9068941 20200609 RGD associated with Xeroderma Pigmentosum;DNA:missense mutation: :p.G602D (mouse) PMID:16904611|REF_RGD_ID:10401080 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3070 high grade glioma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD PMID:11319176|REF_RGD_ID:10401082 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3376 bone osteosarcoma ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone osteosarcoma PMID:19434073|PMID:19470925|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3393 coronary artery disease susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :rs13181(human) PMID:27566080|REF_RGD_ID:12880440 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:37 skin disease ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17050553 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:37 skin disease susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Arsenic Poisoning;DNA:polymorphism:cds:35931A>C(p. K751Q)(human) PMID:19834688|REF_RGD_ID:12880437 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:19434073|PMID:19470925|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.K751Q(human) PMID:25596702|REF_RGD_ID:12880391 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1319264 D RGD:9068941 20221006 RGD DNA:SNPs:multiple (human) PMID:28924235|REF_RGD_ID:153323316 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:4448 macular degeneration susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human) PMID:20375340|REF_RGD_ID:10401085 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:4603 epidermolytic hyperkeratosis ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17050553 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:4971 myelofibrosis no_association ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:23716550|REF_RGD_ID:11252191 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:630 genetic disease ISO RGD:1319264 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11335038|PMID:11443545|PMID:11709541|PMID:11710928|PMID:11734544|PMID:12820975|PMID:15494306|PMID:15534626|PMID:15982307|PMID:16054878|PMID:18470933|PMID:18510925|PMID:18637129|PMID:18709642|PMID:19085937|PMID:19934020|PMID:20633800|PMID:22234153|PMID:22826098|PMID:23221806|PMID:23232694|PMID:23800062|PMID:24033266|PMID:24252196|PMID:24418926|PMID:24448499|PMID:24514865|PMID:24728327|PMID:25002996|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26467025|PMID:26556299|PMID:26577220|PMID:26580448|PMID:26689913|PMID:26884178|PMID:27004399|PMID:27396511|PMID:27504877|PMID:28376765|PMID:28492532|PMID:29169765|PMID:29478780|PMID:29607586|PMID:30136158|PMID:31980526|PMID:33199492|PMID:7585650|PMID:7849702|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:635 acquired immunodeficiency syndrome susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K751Q(human) PMID:20127180|REF_RGD_ID:5688740 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1319264 D RGD:9068941 20211217 RGD DNA:SNP:cd: 312A>G (human) PMID:28927037|REF_RGD_ID:150530503 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNPs:exon 23: p.K751Q (human) PMID:19919686|REF_RGD_ID:25671459 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNPs:exon 23: p.K751Q (human) PMID:25531380|REF_RGD_ID:25671460 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNPs:exon 23: p.K751Q (rs13181) (human) PMID:28598207|REF_RGD_ID:25671461 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:687 hepatoblastoma ISO RGD:1319264 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:24728327|PMID:25741868|PMID:28492532|PMID:29178624 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:83 cataract ISO RGD:1319265 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.2209T>C (p.S37P) (human) PMID:25951169|REF_RGD_ID:12880390 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:8552 chronic myeloid leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (human) PMID:24955348|REF_RGD_ID:11252188 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:8552 chronic myeloid leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:25311495|REF_RGD_ID:11060463 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.D312N (rs1799793) (human) PMID:21283657|REF_RGD_ID:5688734 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17009404 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9001946 Skin Abnormalities ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17470448 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1319264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:28492532 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.K751Q (rs13181) (human) PMID:22739018|REF_RGD_ID:11252203 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.K751Q (rs13181) (human) PMID:19484764|REF_RGD_ID:11252204 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17695467 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :rs1799793(human) PMID:25881102|REF_RGD_ID:11252176 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9003386 Sunburn ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17470448 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9004464 Skin Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17050553 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) PMID:21047201|REF_RGD_ID:11098572 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9004814 Chromosome Aberrations susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with arsenic induced Hyperkeratosis; DNA:polymorphism:cds:p. K751Q(human) PMID:17050553|REF_RGD_ID:12880393 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005172 Lung Neoplasms susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:haplotype:cds:p.K751Q(human) PMID:17498557|REF_RGD_ID:12880386 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005463 Occupational Diseases ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16889696 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9005622 Congenital Ichthyosis with Trichothiodystrophy ISO RGD:1319264 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS PMID:11335038|PMID:11709541|PMID:15982307|PMID:19085937|PMID:19931493|PMID:19934020|PMID:20633800|PMID:20944642|PMID:22234153|PMID:23039039|PMID:23221806|PMID:23232694|PMID:24033266|PMID:24728327|PMID:25620205|PMID:25716912|PMID:25741868|PMID:26884178|PMID:27504877|PMID:28492532|PMID:29607586|PMID:31282071|PMID:31803976|PMID:7585650|PMID:7920640|PMID:8571952|PMID:9195225|PMID:9238033|PMID:9651581 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9006169 Head and Neck Neoplasms severity ISO RGD:1319264 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:26659720|REF_RGD_ID:11573297 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP: :p.K751Q (rs13181) (human) PMID:15339847|REF_RGD_ID:11252202 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human) PMID:17197435|REF_RGD_ID:11252178 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9007364 Mouth Neoplasms susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D312N,K751Q(human) PMID:17290401|REF_RGD_ID:8552678 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9007659 Anthracycline-induced Cardiotoxicity ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;DNA:SNP:exon:p.K751Q (rs13181) (human) PMID:24284041|REF_RGD_ID:11252190 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9007715 Endometrial Neoplasms susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.R156R(human) PMID:26349749|REF_RGD_ID:12880439 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9008443 Colorectal Neoplasms ISO RGD:1319264 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18267032 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.K751Q (rs13181) (human) PMID:19307510|REF_RGD_ID:11340203 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD associated with Myeloproliferative Disorders;DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:22496165|REF_RGD_ID:11252198 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human) PMID:21394217|REF_RGD_ID:11252209 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:20141440|REF_RGD_ID:11252173 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9119 acute myeloid leukemia no_association ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:23397959|REF_RGD_ID:11252193 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9256 colorectal cancer ISO RGD:1319264 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9538 multiple myeloma disease_progression ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.K751Q (rs13181) (human) PMID:22183071|REF_RGD_ID:11252199 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9538 multiple myeloma sexual_dimorphism ISO RGD:1319264 D RGD:9068941 20230928 RGD DNA:SNP:exon 23:p.K751Q (rs1052559)(Human) PMID:17131345|REF_RGD_ID:401827277 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9655 oral mucosa leukoplakia susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.K751Q(human) PMID:17290401|REF_RGD_ID:8552678 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9669 senile cataract no_association ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.K751Q (human) PMID:21599457|REF_RGD_ID:10401083 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9669 senile cataract susceptibility ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.D312N (human) PMID:24868140|REF_RGD_ID:10401084 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:haplotype PMID:21987080|REF_RGD_ID:11340201 8995647 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:1319264 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.D312N, p.K751Q (human) PMID:19101034|REF_RGD_ID:11252192 8995685 Maob monoamine oxidase B gene DOID:0050771 pheochromocytoma ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 8995685 Maob monoamine oxidase B gene DOID:0060693 Brunner syndrome ISO RGD:732580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brunner syndrome PMID:17296899|PMID:20340138|PMID:22382802|PMID:28492532|PMID:30452590|PMID:8211186 8995685 Maob monoamine oxidase B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8995685 Maob monoamine oxidase B gene DOID:10652 Alzheimer's disease ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21075085|PMID:7816197 8995685 Maob monoamine oxidase B gene DOID:10652 Alzheimer's disease ISO RGD:732580 D RGD:9068941 20200609 RGD PMID:1627256|REF_RGD_ID:10046060 8995685 Maob monoamine oxidase B gene DOID:12849 autistic disorder ISO RGD:732580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8995685 Maob monoamine oxidase B gene DOID:12858 Huntington's disease ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21075085 8995685 Maob monoamine oxidase B gene DOID:13382 megaloblastic anemia ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7430361 8995685 Maob monoamine oxidase B gene DOID:13413 hepatic encephalopathy ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10564534 8995685 Maob monoamine oxidase B gene DOID:13580 cholestasis ISO RGD:3041 D RGD:9068941 20200609 RGD protein:altered activity:hypothalamus (rat) PMID:18802767|REF_RGD_ID:2307352 8995685 Maob monoamine oxidase B gene DOID:14330 Parkinson's disease ISO RGD:3041 D RGD:9068941 20200609 RGD protein:increased activity:striatum (rat) PMID:17417741|REF_RGD_ID:2316771 8995685 Maob monoamine oxidase B gene DOID:14330 Parkinson's disease ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21318773 8995685 Maob monoamine oxidase B gene DOID:14330 Parkinson's disease ISO RGD:732580 D RGD:9068941 20200609 RGD PMID:9129714|REF_RGD_ID:1358484 8995685 Maob monoamine oxidase B gene DOID:289 endometriosis ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8995685 Maob monoamine oxidase B gene DOID:5419 schizophrenia ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20479760 8995685 Maob monoamine oxidase B gene DOID:630 genetic disease ISO RGD:732580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995685 Maob monoamine oxidase B gene DOID:9002928 Colonic Neoplasms ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 8995685 Maob monoamine oxidase B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8995685 Maob monoamine oxidase B gene DOID:9005832 Amyloid Plaques ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7816197 8995685 Maob monoamine oxidase B gene DOID:9006024 Hypotension ISO RGD:732580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11834493 8995685 Maob monoamine oxidase B gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:732580 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:22197486|PMID:23076834|PMID:23354975|PMID:23913813|PMID:25972376|PMID:28492532 8995702 Fbxo28 F-box protein 28 gene DOID:0070386 developmental and epileptic encephalopathy 100 ISO RGD:1312107 D RGD:7240710 20220316 OMIM 8995702 Fbxo28 F-box protein 28 gene DOID:0070386 developmental and epileptic encephalopathy 100 ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 100 PMID:25356899|PMID:33280099 8995702 Fbxo28 F-box protein 28 gene DOID:1540 parathyroid carcinoma ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8995702 Fbxo28 F-box protein 28 gene DOID:630 genetic disease ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356899|PMID:33280099 8995702 Fbxo28 F-box protein 28 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8995716 Tp53bp2 tumor protein p53 binding protein 2 gene DOID:0050938 breast lobular carcinoma ISO RGD:1313500 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 8995716 Tp53bp2 tumor protein p53 binding protein 2 gene DOID:0060412 chromosome 1q41-q42 deletion syndrome ISO RGD:1313501 D RGD:9068941 20220825 MouseDO OMIM:612530 8995716 Tp53bp2 tumor protein p53 binding protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1313500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8995716 Tp53bp2 tumor protein p53 binding protein 2 gene DOID:630 genetic disease ISO RGD:1313500 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995716 Tp53bp2 tumor protein p53 binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1313500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 8995716 Tp53bp2 tumor protein p53 binding protein 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1313500 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28650484 8995716 Tp53bp2 tumor protein p53 binding protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313500 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8995761 Epha6 EPH receptor A6 gene DOID:0110125 Bardet-Biedl syndrome 3 ISO RGD:1605546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 PMID:15258860|PMID:19858128|PMID:20142850|PMID:22334370|PMID:27486776|PMID:28492532|PMID:31736247 8995761 Epha6 EPH receptor A6 gene DOID:630 genetic disease ISO RGD:1605546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995804 Ifngr2 interferon gamma receptor 2 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 8995804 Ifngr2 interferon gamma receptor 2 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1316782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 8995804 Ifngr2 interferon gamma receptor 2 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 8995804 Ifngr2 interferon gamma receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1316782 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8995804 Ifngr2 interferon gamma receptor 2 gene DOID:0111955 immunodeficiency 27A ISO RGD:1316782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 27A PMID:28492532 8995804 Ifngr2 interferon gamma receptor 2 gene DOID:0111995 immunodeficiency 28 ISO RGD:1316782 D RGD:7240710 20180130 OMIM 8995804 Ifngr2 interferon gamma receptor 2 gene DOID:0111995 immunodeficiency 28 ISO RGD:1316782 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:15924140|PMID:16690980|PMID:16885196|PMID:17576681|PMID:18625743|PMID:23161749|PMID:24033266|PMID:25135595|PMID:25741868|PMID:26242990|PMID:27522156|PMID:28492532|PMID:29106381|PMID:30814731|PMID:31222290|PMID:34517836|PMID:9536098 8995804 Ifngr2 interferon gamma receptor 2 gene DOID:630 genetic disease ISO RGD:1316782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8995804 Ifngr2 interferon gamma receptor 2 gene DOID:9004697 Interferon Gamma, Receptor 1, Deficiency ISO RGD:1316782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interferon gamma receptor deficiency PMID:16690980|PMID:16885196|PMID:28492532 8995804 Ifngr2 interferon gamma receptor 2 gene DOID:9005698 ZTTK Syndrome ISO RGD:1316782 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 8995804 Ifngr2 interferon gamma receptor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1316783 D RGD:9068941 20220825 MouseDO OMIM:222100 8995816 Iffo1 intermediate filament family orphan 1 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 8995816 Iffo1 intermediate filament family orphan 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 8995816 Iffo1 intermediate filament family orphan 1 gene DOID:0111621 Temtamy syndrome ISO RGD:1603680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 8995816 Iffo1 intermediate filament family orphan 1 gene DOID:630 genetic disease ISO RGD:1603680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995816 Iffo1 intermediate filament family orphan 1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 8995857 Evi2a ecotropic viral integration site 2A gene DOID:0111253 neurofibromatosis 1 ISO RGD:1350066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10587576|PMID:10607834|PMID:10631140|PMID:10712197|PMID:10980545|PMID:11857752|PMID:12566521|PMID:12807981|PMID:14722914|PMID:15257518|PMID:1568247|PMID:16199547|PMID:16283621|PMID:16786508|PMID:18183042|PMID:18196300|PMID:19221814|PMID:20513137|PMID:22241097|PMID:22807134|PMID:22837079|PMID:23244495|PMID:23532973|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24357598|PMID:24958239|PMID:25205021|PMID:25480383|PMID:25541118|PMID:25631097|PMID:25640679|PMID:26178382|PMID:26189818|PMID:26458495|PMID:26635368|PMID:26740943|PMID:27322474|PMID:27629806|PMID:28492532|PMID:30530636|PMID:33877690|PMID:8116612|PMID:8931693|PMID:9643287 8995857 Evi2a ecotropic viral integration site 2A gene DOID:1969 cerebral palsy ISO RGD:1350066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8995857 Evi2a ecotropic viral integration site 2A gene DOID:630 genetic disease ISO RGD:1350066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995857 Evi2a ecotropic viral integration site 2A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350066 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 8995857 Evi2a ecotropic viral integration site 2A gene DOID:9008086 Developmental Disabilities ISO RGD:1350066 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:0060180 colitis ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:631365 D RGD:9068941 20220915 RGD PMID:27982256|REF_RGD_ID:153352323 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:0080600 COVID-19 ISO RGD:1351636 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:0080600 COVID-19 ISO RGD:1351636 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:1074 kidney failure treatment ISO RGD:631365 D RGD:9068941 20200609 RGD PMID:25594614|REF_RGD_ID:13781896 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:224 transient cerebral ischemia treatment ISO RGD:1351636 D RGD:9068941 20200609 RGD PMID:25603815|REF_RGD_ID:13781895 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:224 transient cerebral ischemia treatment ISO RGD:631365 D RGD:9068941 20200609 RGD PMID:28528966|REF_RGD_ID:13781879 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:3042 allergic contact dermatitis ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:3393 coronary artery disease ISO RGD:1351636 D RGD:9068941 20200609 RGD PMID:17283255|REF_RGD_ID:1642340 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:3407 carotid artery disease ISO RGD:1351636 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:17283255|REF_RGD_ID:1642340 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:631365 D RGD:9068941 20200609 RGD PMID:28495827|REF_RGD_ID:13781880 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1351636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28501332 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:630 genetic disease ISO RGD:1351636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension ISO RGD:1332214 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:28202489|REF_RGD_ID:13781882 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension ISO RGD:1351636 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung,pulmonary arterial endothelial cell: PMID:28202489|REF_RGD_ID:13781882 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension ISO RGD:631365 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:28202489|REF_RGD_ID:13781882 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:1332214 D RGD:9068941 20200609 RGD PMID:28202489|REF_RGD_ID:13781882 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:824 periodontitis ISO RGD:631365 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;mRNA:increased expression:adipose tissue: PMID:26456152|REF_RGD_ID:13781894 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:8893 psoriasis ISO RGD:1351636 D RGD:9068941 20230601 RGD protein:increased expression:blood serum (human) PMID:22151390|REF_RGD_ID:329845865 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:631365 D RGD:9068941 20200609 RGD protein:decreased expression:fat cell PMID:18410550|REF_RGD_ID:2311099 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:9006646 Metabolic Syndrome ISO RGD:1351636 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17556870|REF_RGD_ID:1642337 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:9006646 Metabolic Syndrome ISO RGD:631365 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:15922301|REF_RGD_ID:1642345 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:9007364 Mouth Neoplasms ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28501332 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:9007692 Insulin Resistance ISO RGD:1351636 D RGD:9068941 20200609 RGD associated with Polycystic Ovary Syndrome;protein:increased expression:serum PMID:17582143|REF_RGD_ID:1642341 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:9007980 Sleep Deprivation ISO RGD:631365 D RGD:9068941 20200609 RGD RNA:increased expression:liver: PMID:28860003|REF_RGD_ID:13781877 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:631365 D RGD:9068941 20200609 RGD PMID:28032230|REF_RGD_ID:13781885 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351636 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:23922874|PMID:32005247 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351636 D RGD:9068941 20200609 RGD protein:decreased expression:adipose tissue PMID:16234302|REF_RGD_ID:2311119 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351636 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18410550|REF_RGD_ID:2311099 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:9970 obesity ISO RGD:1351636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23834033 8995866 Nampt nicotinamide phosphoribosyltransferase gene DOID:9970 obesity ISO RGD:1351636 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17618961|REF_RGD_ID:1642336 8995882 Ube4b ubiquitination factor E4B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1312355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8995882 Ube4b ubiquitination factor E4B gene DOID:0060224 atrial fibrillation ISO RGD:1312355 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8995882 Ube4b ubiquitination factor E4B gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312355 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8995882 Ube4b ubiquitination factor E4B gene DOID:0081292 traumatic brain injury ISO RGD:1312355 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 8995882 Ube4b ubiquitination factor E4B gene DOID:0111936 immunodeficiency 14 ISO RGD:1312355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 8995882 Ube4b ubiquitination factor E4B gene DOID:630 genetic disease ISO RGD:1312355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995882 Ube4b ubiquitination factor E4B gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:1312355 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 8995882 Ube4b ubiquitination factor E4B gene DOID:9002498 Wallerian Degeneration ISO RGD:1312355 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27822499 8995882 Ube4b ubiquitination factor E4B gene DOID:9008582 Developmental Disease ISO RGD:1312355 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8995934 Creld2 cysteine rich with EGF like domains 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 8995934 Creld2 cysteine rich with EGF like domains 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1603954 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 8995934 Creld2 cysteine rich with EGF like domains 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 8995934 Creld2 cysteine rich with EGF like domains 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 8995934 Creld2 cysteine rich with EGF like domains 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1603954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 8995934 Creld2 cysteine rich with EGF like domains 2 gene DOID:1059 intellectual disability ISO RGD:1603954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8995934 Creld2 cysteine rich with EGF like domains 2 gene DOID:630 genetic disease ISO RGD:1603954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995948 Ldhb lactate dehydrogenase B gene DOID:0060074 ductal carcinoma in situ ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23437403 8995948 Ldhb lactate dehydrogenase B gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:735463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 8995948 Ldhb lactate dehydrogenase B gene DOID:4450 renal cell carcinoma ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 8995948 Ldhb lactate dehydrogenase B gene DOID:630 genetic disease ISO RGD:735463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995948 Ldhb lactate dehydrogenase B gene DOID:655 inherited metabolic disorder ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2334429 8995948 Ldhb lactate dehydrogenase B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8995948 Ldhb lactate dehydrogenase B gene DOID:9001686 Acute Coronary Syndrome ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 8995948 Ldhb lactate dehydrogenase B gene DOID:9002304 Prostatic Neoplasms ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 8995948 Ldhb lactate dehydrogenase B gene DOID:9002868 Lactate Dehydrogenase B Deficiency ISO RGD:735463 D RGD:7240710 20180130 OMIM 8995948 Ldhb lactate dehydrogenase B gene DOID:9002868 Lactate Dehydrogenase B Deficiency ISO RGD:735463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactate dehydrogenase B deficiency PMID:10509905|PMID:1587525|PMID:2334429|PMID:28492532|PMID:8314553 8995948 Ldhb lactate dehydrogenase B gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048980 8995948 Ldhb lactate dehydrogenase B gene DOID:9008939 Breast Neoplasms ISO RGD:735463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23437403 8995972 Gcm2 glial cells missing transcription factor 2 gene DOID:0110242 cataract 13 with adult i phenotype ISO RGD:1322420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:28492532 8995972 Gcm2 glial cells missing transcription factor 2 gene DOID:0111387 familial isolated hypoparathyroidism ISO RGD:1322420 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:15728199|PMID:16199547|PMID:18182452|PMID:20190276|PMID:21642377|PMID:23155703|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032 8995972 Gcm2 glial cells missing transcription factor 2 gene DOID:11199 hypoparathyroidism ISO RGD:1322421 D RGD:9068941 20220825 MouseDO OMIM:146200 | OMIM:307700 8995972 Gcm2 glial cells missing transcription factor 2 gene DOID:630 genetic disease ISO RGD:1322420 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18712808|PMID:27480553 8995972 Gcm2 glial cells missing transcription factor 2 gene DOID:9002627 Familial Isolated Hypoparathyroidism 2 ISO RGD:1322420 D RGD:7240710 20200520 OMIM 8995972 Gcm2 glial cells missing transcription factor 2 gene DOID:9002627 Familial Isolated Hypoparathyroidism 2 ISO RGD:1322420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated, 2 PMID:11602629|PMID:15728199|PMID:15863676|PMID:18583467|PMID:18712808|PMID:21642377|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032 8995972 Gcm2 glial cells missing transcription factor 2 gene DOID:9003143 Hyperparathyroidism 4 ISO RGD:1322420 D RGD:7240710 20190315 OMIM 8995972 Gcm2 glial cells missing transcription factor 2 gene DOID:9003143 Hyperparathyroidism 4 ISO RGD:1322420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 4 PMID:15728199|PMID:21642377|PMID:25741868|PMID:27745835|PMID:28492532|PMID:29264504|PMID:30624640|PMID:31671402|PMID:32576032|PMID:34008892 8995982 Nkx2-6 NK2 homeobox 6 gene DOID:0050650 familial atrial fibrillation susceptibility ISO RGD:1603362 D RGD:9068941 20230128 RGD DNA:missense mutation:CDS:p.Q175H (human) PMID:25319568|REF_RGD_ID:155882443 8995982 Nkx2-6 NK2 homeobox 6 gene DOID:13938 amenorrhea ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8995982 Nkx2-6 NK2 homeobox 6 gene DOID:1657 ventricular septal defect susceptibility ISO RGD:1603362 D RGD:9068941 20230128 RGD DNA:missense mutation:CDS:p.K152Q (human) PMID:25380965|REF_RGD_ID:155882444 8995982 Nkx2-6 NK2 homeobox 6 gene DOID:1969 cerebral palsy ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 8995982 Nkx2-6 NK2 homeobox 6 gene DOID:630 genetic disease ISO RGD:1603362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8995982 Nkx2-6 NK2 homeobox 6 gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Persistent truncus arteriosus PMID:15649947 8995982 Nkx2-6 NK2 homeobox 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1603362 D RGD:7240710 20180530 OMIM 8995982 Nkx2-6 NK2 homeobox 6 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1603362 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations PMID:24421281|PMID:25741868|PMID:28492532 8995988 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:0111404 Jalili syndrome ISO RGD:1313679 D RGD:7240710 20200228 OMIM 8995988 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:0111404 Jalili syndrome ISO RGD:1313679 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Jalili syndrome PMID:15173235|PMID:17576681|PMID:19200525|PMID:19200527|PMID:25741868|PMID:28492532|PMID:30718709|PMID:3236352|PMID:34906470|PMID:9536098 8995988 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1313679 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:34906470|PMID:9536098 8995988 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:1059 intellectual disability ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8995988 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:5419 schizophrenia ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8995988 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:630 genetic disease ISO RGD:1313679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8995988 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:8501 fundus dystrophy ISO RGD:1313679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy 8995988 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 gene DOID:9001979 Amaurosis Hypertrichosis ISO RGD:1313679 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8996004 Macf1 microtubule actin crosslinking factor 1 gene DOID:0050453 lissencephaly ISO RGD:1352225 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:30471716 8996004 Macf1 microtubule actin crosslinking factor 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:31474318 8996004 Macf1 microtubule actin crosslinking factor 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8996004 Macf1 microtubule actin crosslinking factor 1 gene DOID:0112228 lissencephaly 9 with complex brainstem malformation ISO RGD:1352225 D RGD:7240710 20190315 OMIM 8996004 Macf1 microtubule actin crosslinking factor 1 gene DOID:0112228 lissencephaly 9 with complex brainstem malformation ISO RGD:1352225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation | ClinVar Annotator: match by term: MACF1-related condition | ClinVar Annotator: match by term: Spectraplakinopathy type I | ClinVar Annotator: match by term: lissencephaly with brainstem hypoplasia PMID:24507697|PMID:25741868|PMID:28492532|PMID:30471716|PMID:33600046 8996004 Macf1 microtubule actin crosslinking factor 1 gene DOID:10283 prostate cancer ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8996004 Macf1 microtubule actin crosslinking factor 1 gene DOID:1059 intellectual disability ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8996004 Macf1 microtubule actin crosslinking factor 1 gene DOID:1826 epilepsy ISO RGD:1352225 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8996004 Macf1 microtubule actin crosslinking factor 1 gene DOID:630 genetic disease ISO RGD:1352225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8996004 Macf1 microtubule actin crosslinking factor 1 gene DOID:9004125 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Facial hemangioma PMID:31474318 8996004 Macf1 microtubule actin crosslinking factor 1 gene DOID:9007661 Dwarfism ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8996004 Macf1 microtubule actin crosslinking factor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1352225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8996108 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1606812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 8996108 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1606812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 8996108 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:1059 intellectual disability ISO RGD:1606812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8996108 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:12177 common variable immunodeficiency ISO RGD:1606812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 8996108 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:2729 dyskeratosis congenita ISO RGD:1606812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 8996108 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1606812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 8996108 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1606812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 8996108 Elp5 elongator acetyltransferase complex subunit 5 gene DOID:630 genetic disease ISO RGD:1606812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996139 Supv3l1 Suv3 like RNA helicase gene DOID:1697 ichthyosis ISO RGD:1313667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 8996139 Supv3l1 Suv3 like RNA helicase gene DOID:630 genetic disease ISO RGD:1313667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996139 Supv3l1 Suv3 like RNA helicase gene DOID:9001946 Skin Abnormalities ISO RGD:1313667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 8996139 Supv3l1 Suv3 like RNA helicase gene DOID:9008824 Sarcopenia ISO RGD:1313667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 8996139 Supv3l1 Suv3 like RNA helicase gene DOID:987 alopecia ISO RGD:1313667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19145458 8996182 Znf597 zinc finger protein 597 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8996182 Znf597 zinc finger protein 597 gene DOID:1826 epilepsy ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8996182 Znf597 zinc finger protein 597 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351139 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8996182 Znf597 zinc finger protein 597 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1351139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 8996182 Znf597 zinc finger protein 597 gene DOID:630 genetic disease ISO RGD:1351139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:732873 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:621032 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:1561 cognitive disorder ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:1852 intrahepatic cholestasis ISO RGD:621032 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18578998|REF_RGD_ID:2311605 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:3883 Lynch syndrome ISO RGD:732873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:11136233|PMID:20233523|PMID:28492532|PMID:33094510 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:3883 Lynch syndrome ISO RGD:732873 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:630 genetic disease ISO RGD:732873 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811326 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:9002661 Diabetes Complications ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29382564 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29943110 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:9351 diabetes mellitus ISO RGD:621032 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreatic islet PMID:17259388|REF_RGD_ID:2311606 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732873 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:18781616|REF_RGD_ID:2311604 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:9452 steatotic liver disease ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:9455 lipid storage disease ISO RGD:732873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:9970 obesity ISO RGD:732873 D RGD:7240710 20180130 OMIM 8996199 Nr0b2 nuclear receptor subfamily 0 group B member 2 gene DOID:9970 obesity ISO RGD:732873 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: NR0B2-related condition | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 8996205 Muc7 mucin 7, secreted gene DOID:2841 asthma ISO RGD:1344843 D RGD:7240710 20230505 OMIM 8996205 Muc7 mucin 7, secreted gene DOID:2841 asthma ISO RGD:1344843 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Asthma, protection against PMID:11378823|PMID:16759176|PMID:28492532 8996205 Muc7 mucin 7, secreted gene DOID:630 genetic disease ISO RGD:1344843 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996212 Gimap6 GTPase, IMAP family member 6 gene DOID:2843 long QT syndrome ISO RGD:1603796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 8996212 Gimap6 GTPase, IMAP family member 6 gene DOID:612 primary immunodeficiency disease ISO RGD:1603796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary Immune Deficiency PMID:25741868|PMID:33328581 8996212 Gimap6 GTPase, IMAP family member 6 gene DOID:630 genetic disease ISO RGD:1603796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996218 Zswim3 zinc finger SWIM-type containing 3 gene DOID:2234 focal epilepsy ISO RGD:1320317 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8996218 Zswim3 zinc finger SWIM-type containing 3 gene DOID:630 genetic disease ISO RGD:1320317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996218 Zswim3 zinc finger SWIM-type containing 3 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1320317 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1349486 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868|PMID:29422393 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0050741 alcohol dependence ISO RGD:1349486 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Alcohol dependence PMID:25741868 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:1349486 D RGD:7240710 20240320 OMIM 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1349486 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:29422393 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0112214 developmental and epileptic encephalopathy 78 ISO RGD:1349486 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78 PMID:25741868|PMID:28492532|PMID:29422393|PMID:29961870|PMID:31032849 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:0112214 developmental and epileptic encephalopathy 78 susceptibility ISO RGD:1349486 D RGD:7240710 20240320 OMIM 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:12849 autistic disorder ISO RGD:1349486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18821008 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:12849 autistic disorder ISO RGD:1349486 D RGD:9068941 20200609 RGD DNA:SNP: : PMID:16080114|REF_RGD_ID:6480256 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:1574 alcohol use disorder ISO RGD:1349486 D RGD:9068941 20231026 CTD CTD Direct Evidence: marker/mechanism PMID:22253714 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:1349486 D RGD:9068941 20231019 RGD DNA:SNPs:multiple: PMID:15024690|REF_RGD_ID:6480257 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:2030 anxiety disorder ISO RGD:1349486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18313124 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:630 genetic disease ISO RGD:1349486 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19833324|PMID:20133874 8996228 Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 gene DOID:9976 heroin dependence ISO RGD:1349486 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19833324 8996279 B3gntl1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 gene DOID:630 genetic disease ISO RGD:1603899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996298 Ric1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1320674 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 8996298 Ric1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:1826 epilepsy ISO RGD:1320674 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8996298 Ric1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:630 genetic disease ISO RGD:1320674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996298 Ric1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:9005601 CATIFA Syndrome ISO RGD:1320674 D RGD:7240710 20200226 OMIM 8996298 Ric1 RIC1 homolog, RAB6A GEF complex partner 1 gene DOID:9005601 CATIFA Syndrome ISO RGD:1320674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catifa syndrome PMID:25741868|PMID:27878435|PMID:31932796 8996328 Hmmr hyaluronan mediated motility receptor gene DOID:0080600 COVID-19 ISO RGD:737426 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8996328 Hmmr hyaluronan mediated motility receptor gene DOID:11612 polycystic ovary syndrome ISO RGD:737426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8996328 Hmmr hyaluronan mediated motility receptor gene DOID:1612 breast cancer ISO RGD:737426 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to PMID:25741868 8996328 Hmmr hyaluronan mediated motility receptor gene DOID:1612 breast cancer susceptibility ISO RGD:737426 D RGD:7240710 20230505 OMIM 8996328 Hmmr hyaluronan mediated motility receptor gene DOID:2394 ovarian cancer ISO RGD:737426 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 8996328 Hmmr hyaluronan mediated motility receptor gene DOID:630 genetic disease ISO RGD:737426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996328 Hmmr hyaluronan mediated motility receptor gene DOID:684 hepatocellular carcinoma ISO RGD:737426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8996328 Hmmr hyaluronan mediated motility receptor gene DOID:8552 chronic myeloid leukemia ISO RGD:737426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 8996328 Hmmr hyaluronan mediated motility receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17922014 8996328 Hmmr hyaluronan mediated motility receptor gene DOID:9008952 Breast Cancer, Familial ISO RGD:737426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 8996353 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1604349 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 8996353 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:0080074 neural tube defect ISO RGD:1604349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 8996353 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:10485 esophageal atresia ISO RGD:1604349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 8996353 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:1059 intellectual disability ISO RGD:1604349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8996353 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:10652 Alzheimer's disease ISO RGD:1551408 D RGD:9068941 20200609 RGD PMID:23910655|REF_RGD_ID:14390071 8996353 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:4752 multiple system atrophy ISO RGD:1604349 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:27875637|REF_RGD_ID:14390070 8996353 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:630 genetic disease ISO RGD:1604349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996353 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1604349 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 8996353 Ambra1 autophagy and beclin 1 regulator 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 8996381 Glod4 glyoxalase domain containing 4 gene DOID:630 genetic disease ISO RGD:1315949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996396 Klhl34 kelch like family member 34 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8996396 Klhl34 kelch like family member 34 gene DOID:12849 autistic disorder ISO RGD:1603872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8996396 Klhl34 kelch like family member 34 gene DOID:630 genetic disease ISO RGD:1603872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996396 Klhl34 kelch like family member 34 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8996407 Adamtsl4 ADAMTS like 4 gene DOID:0111148 isolated ectopia lentis ISO RGD:1351069 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Isolated ectopia lentis PMID:19200529|PMID:20564469|PMID:22736615|PMID:24033266|PMID:28492532|PMID:28642162 8996407 Adamtsl4 ADAMTS like 4 gene DOID:0111149 autosomal recessive isolated ectopia lentis 2 ISO RGD:1351069 D RGD:7240710 20180130 OMIM 8996407 Adamtsl4 ADAMTS like 4 gene DOID:0111149 autosomal recessive isolated ectopia lentis 2 ISO RGD:1351069 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ADAMTSL4-related condition | ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive PMID:17576681|PMID:19200529|PMID:20141359|PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:23426735|PMID:2377351|PMID:24033266|PMID:24802351|PMID:25741868|PMID:25975359|PMID:26653794|PMID:28394649|PMID:28492532|PMID:28642162|PMID:31837199|PMID:36208099|PMID:9536098 8996407 Adamtsl4 ADAMTS like 4 gene DOID:0111648 ectopia lentis with ectopia of pupil ISO RGD:1351069 D RGD:7240710 20180130 OMIM 8996407 Adamtsl4 ADAMTS like 4 gene DOID:0111648 ectopia lentis with ectopia of pupil ISO RGD:1351069 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ectopia lentis et pupillae PMID:17576681|PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:23426735|PMID:24033266|PMID:24802351|PMID:25741868|PMID:25741879|PMID:25975359|PMID:26653794|PMID:28394649|PMID:28492532|PMID:28642162|PMID:36208099|PMID:9536098 8996407 Adamtsl4 ADAMTS like 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8996407 Adamtsl4 ADAMTS like 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8996407 Adamtsl4 ADAMTS like 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351069 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8996407 Adamtsl4 ADAMTS like 4 gene DOID:110 lens disease ISO RGD:1557679 D RGD:9068941 20220825 MouseDO 8996407 Adamtsl4 ADAMTS like 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8996407 Adamtsl4 ADAMTS like 4 gene DOID:5812 MHC class II deficiency ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8996407 Adamtsl4 ADAMTS like 4 gene DOID:630 genetic disease ISO RGD:1351069 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8996407 Adamtsl4 ADAMTS like 4 gene DOID:9000218 Craniosynostosis with Ectopia Lentis ISO RGD:1351069 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis PMID:17576681|PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:24033266|PMID:25741868|PMID:25975359|PMID:28492532|PMID:28642162|PMID:35378950|PMID:9536098 8996407 Adamtsl4 ADAMTS like 4 gene DOID:9004201 Ectopia Lentis ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectopia lentis PMID:2056446|PMID:20564469|PMID:20702823|PMID:21051722|PMID:22736615|PMID:22871183|PMID:24033266|PMID:25741868|PMID:25975359|PMID:28492532|PMID:28642162 8996407 Adamtsl4 ADAMTS like 4 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1351069 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:20564469|PMID:25741868|PMID:28492532|PMID:28642162|PMID:31837199 8996407 Adamtsl4 ADAMTS like 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351069 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8996427 Ptpn12 protein tyrosine phosphatase non-receptor type 12 gene DOID:1520 colon carcinoma ISO RGD:1346224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:7509295 8996427 Ptpn12 protein tyrosine phosphatase non-receptor type 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1346224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8996427 Ptpn12 protein tyrosine phosphatase non-receptor type 12 gene DOID:630 genetic disease ISO RGD:1346224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996427 Ptpn12 protein tyrosine phosphatase non-receptor type 12 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1346224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 8996427 Ptpn12 protein tyrosine phosphatase non-receptor type 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346224 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 8996427 Ptpn12 protein tyrosine phosphatase non-receptor type 12 gene DOID:9256 colorectal cancer ISO RGD:1346224 D RGD:7240710 20200226 OMIM 8996456 Snrnp27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 gene DOID:0060224 atrial fibrillation ISO RGD:1605404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 8996456 Snrnp27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 gene DOID:630 genetic disease ISO RGD:1605404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996470 Cpsf7 cleavage and polyadenylation specific factor 7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8996470 Cpsf7 cleavage and polyadenylation specific factor 7 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602680 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 8996470 Cpsf7 cleavage and polyadenylation specific factor 7 gene DOID:10283 prostate cancer ISO RGD:1602680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8996470 Cpsf7 cleavage and polyadenylation specific factor 7 gene DOID:1059 intellectual disability ISO RGD:1602680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8996470 Cpsf7 cleavage and polyadenylation specific factor 7 gene DOID:630 genetic disease ISO RGD:1602680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996490 Ccdc42 coiled-coil domain containing 42 gene DOID:630 genetic disease ISO RGD:1601721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996502 Myef2 myelin expression factor 2 gene DOID:0050632 oculocutaneous albinism ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:16199547|PMID:23985994|PMID:24033266|PMID:26686029|PMID:28492532 8996502 Myef2 myelin expression factor 2 gene DOID:0080614 oculocutaneous albinism type VI ISO RGD:1315223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI PMID:23364476|PMID:23985994|PMID:25741868|PMID:26491832|PMID:26686029|PMID:28492532|PMID:31077556 8996502 Myef2 myelin expression factor 2 gene DOID:14323 Marfan syndrome ISO RGD:1315223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 8996502 Myef2 myelin expression factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8996502 Myef2 myelin expression factor 2 gene DOID:630 genetic disease ISO RGD:1315223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23985994|PMID:26686029|PMID:28492532 8996502 Myef2 myelin expression factor 2 gene DOID:9001735 Skin/Hair/Eye Pigmentation, Variation In, 4 ISO RGD:1315223 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 PMID:23010199|PMID:25741868 8996502 Myef2 myelin expression factor 2 gene DOID:9256 colorectal cancer ISO RGD:1315223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8996537 Crx cone-rod homeobox gene DOID:0050439 Usher syndrome ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868 8996537 Crx cone-rod homeobox gene DOID:0050572 cone-rod dystrophy ISO RGD:733182 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10874321|PMID:10916183|PMID:11748859|PMID:11971869|PMID:24265693|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30543658|PMID:30718709|PMID:31626798|PMID:32533067|PMID:33691693|PMID:36909829|PMID:9390563|PMID:9427255 8996537 Crx cone-rod homeobox gene DOID:0050817 Stargardt disease ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:28492532|PMID:29555955|PMID:30718709|PMID:32533067|PMID:35934205 8996537 Crx cone-rod homeobox gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:733182 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:25741868|PMID:26355662|PMID:28492532|PMID:29641573|PMID:30718709|PMID:31626798|PMID:31630094|PMID:32865313 8996537 Crx cone-rod homeobox gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:733182 D RGD:7240710 20180130 OMIM 8996537 Crx cone-rod homeobox gene DOID:0110333 Leber congenital amaurosis 7 ISO RGD:733182 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 7 PMID:10766140|PMID:10874321|PMID:10916183|PMID:11139241|PMID:11748859|PMID:11910559|PMID:11971869|PMID:12208271|PMID:12359607|PMID:12843339|PMID:15531334|PMID:15994872|PMID:16123401|PMID:16199547|PMID:17576681|PMID:17964524|PMID:18682808|PMID:20301475|PMID:20513135|PMID:21602930|PMID:22960069|PMID:22968130|PMID:23049240|PMID:23806086|PMID:24088041|PMID:24154662|PMID:24265693|PMID:24516401|PMID:25259927|PMID:25270190|PMID:25326637|PMID:25356976|PMID:25741868|PMID:26161267|PMID:26355662|PMID:26667666|PMID:26682157|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28945142|PMID:28966547|PMID:29068479|PMID:29555955|PMID:29568065|PMID:29641573|PMID:29785639|PMID:29847639|PMID:30029497|PMID:30460480|PMID:30543658|PMID:30557390|PMID:30718709|PMID:30945053|PMID:31047384|PMID:31054281|PMID:31215831|PMID:31626798|PMID:31630094|PMID:31743059|PMID:32165824|PMID:32531858|PMID:32533067|PMID:32581362|PMID:32689858|PMID:32865313|PMID:32927963|PMID:33090715|PMID:33546218|PMID:33691693|PMID:35260635|PMID:35934205|PMID:36464167|PMID:36909829|PMID:9390563|PMID:9427255|PMID:9536098|PMID:9537410|PMID:9792858|PMID:9931337 8996537 Crx cone-rod homeobox gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:733182 D RGD:7240710 20180130 OMIM 8996537 Crx cone-rod homeobox gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:733182 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 PMID:10766140|PMID:10874321|PMID:10916183|PMID:11139241|PMID:11748859|PMID:11971869|PMID:15531334|PMID:16123401|PMID:17964524|PMID:18682808|PMID:20513135|PMID:22960069|PMID:22968130|PMID:23049240|PMID:24265693|PMID:25270190|PMID:25741868|PMID:26161267|PMID:26355662|PMID:26682157|PMID:28041643|PMID:28492532|PMID:28945142|PMID:29068479|PMID:29785639|PMID:30543658|PMID:30718709|PMID:31054281|PMID:31215831|PMID:31626798|PMID:31630094|PMID:32533067|PMID:33546218|PMID:33691693|PMID:36909829|PMID:9390563|PMID:9427255|PMID:9792858 8996537 Crx cone-rod homeobox gene DOID:10283 prostate cancer ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8996537 Crx cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10766140|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:20513135|PMID:22960069|PMID:23049240|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30718709|PMID:9427255|PMID:9792858 8996537 Crx cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10766140|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:22960069|PMID:23049240|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30718709|PMID:9427255|PMID:9792858 8996537 Crx cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10766140|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:20513135|PMID:22960069|PMID:23049240|PMID:25741868|PMID:26355662|PMID:27624628|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30718709|PMID:31626798|PMID:33090715|PMID:9427255|PMID:9792858 8996537 Crx cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10766140|PMID:10916183|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:20513135|PMID:22960069|PMID:23049240|PMID:24265693|PMID:25741868|PMID:26355662|PMID:27624628|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30543658|PMID:30718709|PMID:31626798|PMID:33090715|PMID:36909829|PMID:9427255|PMID:9792858 8996537 Crx cone-rod homeobox gene DOID:10584 retinitis pigmentosa ISO RGD:733182 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10766140|PMID:10916183|PMID:11139241|PMID:11748859|PMID:16123401|PMID:17964524|PMID:18682808|PMID:20513135|PMID:22960069|PMID:22968130|PMID:23049240|PMID:24265693|PMID:25270190|PMID:25741868|PMID:26355662|PMID:27624628|PMID:28041643|PMID:28492532|PMID:30460480|PMID:30543658|PMID:30718709|PMID:31626798|PMID:32531858|PMID:33090715|PMID:36909829|PMID:9427255|PMID:9792858 8996537 Crx cone-rod homeobox gene DOID:14791 Leber congenital amaurosis ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:26872967|PMID:32165824 8996537 Crx cone-rod homeobox gene DOID:3529 congenital myopathy 1A ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:11139241|PMID:16123401|PMID:17964524|PMID:23049240|PMID:25741868|PMID:28492532 8996537 Crx cone-rod homeobox gene DOID:4448 macular degeneration ISO RGD:733182 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28041643 8996537 Crx cone-rod homeobox gene DOID:630 genetic disease ISO RGD:733182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8996537 Crx cone-rod homeobox gene DOID:8466 retinal degeneration ISO RGD:733182 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9792858 8996537 Crx cone-rod homeobox gene DOID:8501 fundus dystrophy ISO RGD:733182 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10916183|PMID:11748859|PMID:11971869|PMID:21602930|PMID:22968130|PMID:24154662|PMID:24265693|PMID:24516401|PMID:25270190|PMID:25326637|PMID:25741868|PMID:26161267|PMID:27624628|PMID:28041643|PMID:28492532|PMID:29068479|PMID:29555955|PMID:29641573|PMID:29785639|PMID:30543658|PMID:31215831|PMID:31626798|PMID:31630094|PMID:32531858|PMID:32533067|PMID:32581362|PMID:32689858|PMID:32927963|PMID:33090715|PMID:33546218|PMID:36909829|PMID:9427255|PMID:9792858|PMID:9931337 8996537 Crx cone-rod homeobox gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:733182 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Benign concentric annular macular dystrophy PMID:22968130|PMID:23806086|PMID:24088041|PMID:25259927|PMID:25270190|PMID:28492532 8996544 Tada2b transcriptional adaptor 2B gene DOID:630 genetic disease ISO RGD:2979550 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996562 Gpr32 G protein-coupled receptor 32 gene DOID:0060041 autism spectrum disorder ISO RGD:1343074 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8996562 Gpr32 G protein-coupled receptor 32 gene DOID:630 genetic disease ISO RGD:1343074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996574 Pde8b phosphodiesterase 8B gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18272904 8996574 Pde8b phosphodiesterase 8B gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1348334 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 8996574 Pde8b phosphodiesterase 8B gene DOID:1289 neurodegenerative disease ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 8996574 Pde8b phosphodiesterase 8B gene DOID:630 genetic disease ISO RGD:1348334 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8996574 Pde8b phosphodiesterase 8B gene DOID:679 basal ganglia disease ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 8996574 Pde8b phosphodiesterase 8B gene DOID:9001480 Muscle Rigidity ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 8996574 Pde8b phosphodiesterase 8B gene DOID:9001722 Dysarthria ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20085714 8996574 Pde8b phosphodiesterase 8B gene DOID:9002743 Striatal Degeneration, Autosomal Dominant 1 ISO RGD:1348334 D RGD:7240710 20180130 OMIM 8996574 Pde8b phosphodiesterase 8B gene DOID:9002743 Striatal Degeneration, Autosomal Dominant 1 ISO RGD:1348334 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Striatal degeneration, autosomal dominant 1 PMID:24033266|PMID:25741868|PMID:26475694|PMID:26769607|PMID:28492532 8996574 Pde8b phosphodiesterase 8B gene DOID:9002955 Nerve Degeneration ISO RGD:1348334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Striatal Degeneration 8996574 Pde8b phosphodiesterase 8B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8996574 Pde8b phosphodiesterase 8B gene DOID:9005327 Primary Pigmented Nodular Adrenocortical Disease, 3 ISO RGD:1348334 D RGD:7240710 20180130 OMIM 8996574 Pde8b phosphodiesterase 8B gene DOID:9005327 Primary Pigmented Nodular Adrenocortical Disease, 3 ISO RGD:1348334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 3 PMID:18272904 8996574 Pde8b phosphodiesterase 8B gene DOID:9006845 Striatal Degeneration, Autosomal Dominant ISO RGD:1348334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8996615 Lars1 leucyl-tRNA synthetase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312707 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8996615 Lars1 leucyl-tRNA synthetase 1 gene DOID:0080717 infantile liver failure syndrome 1 ISO RGD:1312707 D RGD:7240710 20180130 OMIM 8996615 Lars1 leucyl-tRNA synthetase 1 gene DOID:0080717 infantile liver failure syndrome 1 ISO RGD:1312707 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 1 | ClinVar Annotator: match by term: LARS1-related condition PMID:22607940|PMID:25051973|PMID:25326635|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30349989|PMID:32699352|PMID:33726816|PMID:34023347|PMID:34194004|PMID:36135330 8996615 Lars1 leucyl-tRNA synthetase 1 gene DOID:0080778 transient infantile liver failure ISO RGD:1312707 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:16199547|PMID:25741868|PMID:28492532|PMID:32699352|PMID:33300650 8996615 Lars1 leucyl-tRNA synthetase 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1312707 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532 8996615 Lars1 leucyl-tRNA synthetase 1 gene DOID:10907 microcephaly ISO RGD:1312707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 8996615 Lars1 leucyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1312707 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8996615 Lars1 leucyl-tRNA synthetase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312707 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8996615 Lars1 leucyl-tRNA synthetase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312707 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8996651 Cops7b COP9 signalosome subunit 7B gene DOID:0060476 Perlman syndrome ISO RGD:1315805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8996651 Cops7b COP9 signalosome subunit 7B gene DOID:0110991 Joubert syndrome 22 ISO RGD:1315805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8996651 Cops7b COP9 signalosome subunit 7B gene DOID:2256 osteochondrodysplasia ISO RGD:1315805 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 8996651 Cops7b COP9 signalosome subunit 7B gene DOID:630 genetic disease ISO RGD:1315805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996682 Kif2b kinesin family member 2B gene DOID:630 genetic disease ISO RGD:1351135 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996693 Uba2 ubiquitin like modifier activating enzyme 2 gene DOID:0060408 chromosome 19q13.11 deletion syndrome ISO RGD:1602133 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal PMID:25741868 8996693 Uba2 ubiquitin like modifier activating enzyme 2 gene DOID:0090020 split hand-foot malformation ISO RGD:1602133 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:25741868|PMID:34040189 8996693 Uba2 ubiquitin like modifier activating enzyme 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1602133 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8996693 Uba2 ubiquitin like modifier activating enzyme 2 gene DOID:630 genetic disease ISO RGD:1602133 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:34040189 8996693 Uba2 ubiquitin like modifier activating enzyme 2 gene DOID:9004913 ACCES Syndrome ISO RGD:1602133 D RGD:7240710 20220831 OMIM 8996693 Uba2 ubiquitin like modifier activating enzyme 2 gene DOID:9004913 ACCES Syndrome ISO RGD:1602133 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: ACCES syndrome | ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME PMID:11920840|PMID:25741868|PMID:28110515|PMID:28492532|PMID:31332306|PMID:31587267|PMID:32758660|PMID:34040189 8996746 Psmd14 proteasome 26S subunit, non-ATPase 14 gene DOID:12849 autistic disorder ISO RGD:1315018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213|PMID:25741868 8996746 Psmd14 proteasome 26S subunit, non-ATPase 14 gene DOID:630 genetic disease ISO RGD:1315018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996746 Psmd14 proteasome 26S subunit, non-ATPase 14 gene DOID:769 neuroblastoma ISO RGD:1315018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30871063 8996746 Psmd14 proteasome 26S subunit, non-ATPase 14 gene DOID:9000918 Disease Progression ISO RGD:1315018 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30871063 8996746 Psmd14 proteasome 26S subunit, non-ATPase 14 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1594532 D RGD:9068941 20200609 RGD protein:decreased expression:liver, cytosolic proteasome complex (rat) PMID:19609968|REF_RGD_ID:9480236 8996777 P4ha1 prolyl 4-hydroxylase subunit alpha 1 gene DOID:630 genetic disease ISO RGD:731788 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8996816 Fibp FGF1 intracellular binding protein gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 8996816 Fibp FGF1 intracellular binding protein gene DOID:1059 intellectual disability ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8996816 Fibp FGF1 intracellular binding protein gene DOID:12270 coloboma ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma of eye PMID:26660953 8996816 Fibp FGF1 intracellular binding protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8996816 Fibp FGF1 intracellular binding protein gene DOID:2746 glycogen storage disease V ISO RGD:1353732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8996816 Fibp FGF1 intracellular binding protein gene DOID:630 genetic disease ISO RGD:1353732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996816 Fibp FGF1 intracellular binding protein gene DOID:8927 learning disability ISO RGD:1353732 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Learning disability PMID:26660953 8996816 Fibp FGF1 intracellular binding protein gene DOID:9001487 Facies ISO RGD:1353732 D RGD:8554872 20221018 ClinVar ClinVar Annotator: match by term: facial dysmorphism PMID:26660953 8996816 Fibp FGF1 intracellular binding protein gene DOID:9003816 Macrocephaly ISO RGD:1353732 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:26660953 8996816 Fibp FGF1 intracellular binding protein gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1353732 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8996816 Fibp FGF1 intracellular binding protein gene DOID:9007012 THAUVIN-ROBINET-FAIVRE SYNDROME ISO RGD:1353732 D RGD:7240710 20190315 OMIM 8996816 Fibp FGF1 intracellular binding protein gene DOID:9007012 THAUVIN-ROBINET-FAIVRE SYNDROME ISO RGD:1353732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome PMID:25741868|PMID:26660953|PMID:27183861 8996816 Fibp FGF1 intracellular binding protein gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1353732 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8996838 Dpcd deleted in primary ciliary dyskinesia homolog (mouse) gene DOID:0090020 split hand-foot malformation ISO RGD:1601768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:21681106 8996838 Dpcd deleted in primary ciliary dyskinesia homolog (mouse) gene DOID:10908 hydrocephalus ISO RGD:1316961 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 8996838 Dpcd deleted in primary ciliary dyskinesia homolog (mouse) gene DOID:630 genetic disease ISO RGD:1601768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996838 Dpcd deleted in primary ciliary dyskinesia homolog (mouse) gene DOID:9562 primary ciliary dyskinesia ISO RGD:1316961 D RGD:9068941 20220825 MouseDO 8996849 Sgk2 serum/glucocorticoid regulated kinase 2 gene DOID:2234 focal epilepsy ISO RGD:1347154 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8996849 Sgk2 serum/glucocorticoid regulated kinase 2 gene DOID:630 genetic disease ISO RGD:1347154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996849 Sgk2 serum/glucocorticoid regulated kinase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8996849 Sgk2 serum/glucocorticoid regulated kinase 2 gene DOID:9256 colorectal cancer ISO RGD:1347154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8996869 Zbtb8os zinc finger and BTB domain containing 8 opposite strand gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8996869 Zbtb8os zinc finger and BTB domain containing 8 opposite strand gene DOID:630 genetic disease ISO RGD:1603245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996883 Cabs1 calcium binding protein, spermatid associated 1 gene DOID:630 genetic disease ISO RGD:1604567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996883 Cabs1 calcium binding protein, spermatid associated 1 gene DOID:9005372 Inflammation treatment ISO RGD:1604567 D RGD:9068941 20200609 RGD PMID:25632019|REF_RGD_ID:14400306 8996883 Cabs1 calcium binding protein, spermatid associated 1 gene DOID:9007278 Anaphylaxis treatment ISO RGD:1604567 D RGD:9068941 20200609 RGD PMID:25632019|REF_RGD_ID:14400306 8996889 Cnih1 cornichon family member 1 gene DOID:0090043 dystonia 5 ISO RGD:1323800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 8996889 Cnih1 cornichon family member 1 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:1323800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 8996889 Cnih1 cornichon family member 1 gene DOID:630 genetic disease ISO RGD:1323800 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996910 Tpd52l1 TPD52 like 1 gene DOID:630 genetic disease ISO RGD:1320807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996910 Tpd52l1 TPD52 like 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8996930 Plekhh3 pleckstrin homology, MyTH4 and FERM domain containing H3 gene DOID:630 genetic disease ISO RGD:1602457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:0110784 hereditary spastic paraplegia 33 ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic tetraparesis PMID:28492532 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:1321015 D RGD:7240710 20180130 OMIM 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:0110802 hereditary spastic paraplegia 50 ISO RGD:1321015 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21937992|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:26077850|PMID:28464862|PMID:28492532|PMID:28832565|PMID:29096665|PMID:29302074|PMID:31230720|PMID:31359954|PMID:32979048|PMID:32989326|PMID:33001864|PMID:33813722|PMID:34087981|PMID:36371792|PMID:9536098 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:1059 intellectual disability ISO RGD:1321015 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome PMID:18414213|PMID:19481195|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32979048 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:1059 intellectual disability ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32979048|PMID:33813722 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:10907 microcephaly ISO RGD:1321015 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24700674|PMID:25558065|PMID:25741868|PMID:32979048 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32979048|PMID:9536098 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1321015 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32979048|PMID:33001864|PMID:9536098 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:607 paraplegia ISO RGD:1321015 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21937992|PMID:24700674|PMID:25326635|PMID:25496299|PMID:25558065|PMID:25741868|PMID:26077850|PMID:28464862|PMID:28492532|PMID:29096665|PMID:29302074|PMID:31359954|PMID:31915823|PMID:32979048|PMID:32989326|PMID:36371792 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1321015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:9004446 Alazami-Yuan Syndrome ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alazami-Yuan syndrome PMID:25741868|PMID:28492532 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 8996948 Ap4m1 adaptor related protein complex 4 subunit mu 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1321015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24700674|PMID:25558065|PMID:25741868|PMID:32979048 8996972 Lrp10 LDL receptor related protein 10 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1321391 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8996972 Lrp10 LDL receptor related protein 10 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1321391 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 8996972 Lrp10 LDL receptor related protein 10 gene DOID:2661 myoepithelioma ISO RGD:1321391 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 8996972 Lrp10 LDL receptor related protein 10 gene DOID:630 genetic disease ISO RGD:1321391 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996972 Lrp10 LDL receptor related protein 10 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1321391 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8996972 Lrp10 LDL receptor related protein 10 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321391 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1605700 D RGD:9068941 20200609 RGD PMID:24652950|REF_RGD_ID:9589169 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1605700 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:1302972 D RGD:9068941 20240201 RGD mRNA:increased expression:pituitary gland (rat) PMID:26509893|REF_RGD_ID:11344152 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:1909 melanoma disease_progression ISO RGD:1605700 D RGD:9068941 20200609 RGD PMID:24658378|REF_RGD_ID:9590069 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1605700 D RGD:9068941 20200609 RGD protein:increased expression:esophagus mucosa: PMID:24805087|REF_RGD_ID:9590071 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1605700 D RGD:9068941 20200609 RGD PMID:20940408|REF_RGD_ID:9589170 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:4001 ovarian carcinoma ISO RGD:1605700 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25115793 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:5223 infertility ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25975992 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1605700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605700 D RGD:9068941 20200609 RGD associated with Esophageal Squamous Cell Carcinoma; PMID:24805087|REF_RGD_ID:9590071 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1605700 D RGD:9068941 20200609 RGD associated with Melanoma; PMID:24658378|REF_RGD_ID:9590069 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20940408|PMID:25115793 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1605700 D RGD:9068941 20200609 RGD associated with lung neoplasms; PMID:20940408|REF_RGD_ID:9589170 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9004203 Chromosome Breakage ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9004379 Vesicular Stomatitis ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26418342 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20940408 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20056891 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1605700 D RGD:9068941 20200609 RGD DNA:SNP: :rs535586(human) PMID:19843671|REF_RGD_ID:9589147 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1605700 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24532712 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1550173 D RGD:9068941 20200609 RGD PMID:24532712|REF_RGD_ID:9589168 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:986 alopecia areata ISO RGD:1605700 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 8996982 Ehmt2 euchromatic histone lysine methyltransferase 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1605700 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:32889036 8997017 G6pc2 glucose-6-phosphatase catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:1344189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997035 Stab2 stabilin 2 gene DOID:630 genetic disease ISO RGD:1349105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997035 Stab2 stabilin 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1349105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8997035 Stab2 stabilin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8997112 Fbn2 fibrillin 2 gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:25741868|PMID:28492532 8997112 Fbn2 fibrillin 2 gene DOID:0050646 distal arthrogryposis ISO RGD:733429 D RGD:9068941 20220825 MouseDO OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 8997112 Fbn2 fibrillin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:733428 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8997112 Fbn2 fibrillin 2 gene DOID:0060249 scoliosis ISO RGD:733428 D RGD:9068941 20200609 RGD DNA:frameshift mutation, missense mutations:exon:multiple PMID:24833718|REF_RGD_ID:12910484 8997112 Fbn2 fibrillin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8997112 Fbn2 fibrillin 2 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25558065 8997112 Fbn2 fibrillin 2 gene DOID:0111595 congenital contractural arachnodactyly ISO RGD:733428 D RGD:7240710 20180130 OMIM 8997112 Fbn2 fibrillin 2 gene DOID:0111595 congenital contractural arachnodactyly ISO RGD:733428 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis PMID:10797416|PMID:11285249|PMID:11470817|PMID:11754102|PMID:15121784|PMID:16199547|PMID:16531736|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:20799338|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24585410|PMID:24833718|PMID:24899048|PMID:25046119|PMID:25326635|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27196565|PMID:28166811|PMID:28383543|PMID:28492532|PMID:28831199|PMID:29501612|PMID:29907982|PMID:29926239|PMID:30029678|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32123317|PMID:32277046|PMID:32534992|PMID:32702406|PMID:33340101|PMID:33435129|PMID:33571691|PMID:33638605|PMID:33895855|PMID:34008892|PMID:3495735|PMID:35360850|PMID:35419902|PMID:4750422|PMID:7493032|PMID:7633409|PMID:8653794|PMID:8900230|PMID:9106527|PMID:9199560|PMID:9536098|PMID:9605585|PMID:9714438|PMID:9737771 8997112 Fbn2 fibrillin 2 gene DOID:0111595 congenital contractural arachnodactyly ISO RGD:733428 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis PMID:10797416|PMID:11285249|PMID:11470817|PMID:11754102|PMID:15121784|PMID:16199547|PMID:16531736|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:20799338|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24585410|PMID:24833718|PMID:24899048|PMID:25046119|PMID:25326635|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27196565|PMID:28166811|PMID:28383543|PMID:28492532|PMID:28831199|PMID:29501612|PMID:29907982|PMID:29910053|PMID:29926239|PMID:30029678|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32123317|PMID:32277046|PMID:32534992|PMID:32702406|PMID:33340101|PMID:33435129|PMID:33571691|PMID:33638605|PMID:33895855|PMID:34008892|PMID:3495735|PMID:35360850|PMID:35419902|PMID:4750422|PMID:7493032|PMID:7633409|PMID:8653794|PMID:8900230|PMID:9106527|PMID:9199560|PMID:9536098|PMID:9605585|PMID:9714438|PMID:9737771 8997112 Fbn2 fibrillin 2 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome PMID:11754102|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:28166811|PMID:28492532|PMID:29926239|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098 8997112 Fbn2 fibrillin 2 gene DOID:0111603 distal arthrogryposis type 7 ISO RGD:733428 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome PMID:11754102|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29910053|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098 8997112 Fbn2 fibrillin 2 gene DOID:10283 prostate cancer ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8997112 Fbn2 fibrillin 2 gene DOID:10941 intracranial aneurysm ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brain aneurysm PMID:16835936|PMID:19006240|PMID:25525159|PMID:25741868|PMID:26038974|PMID:28492532 8997112 Fbn2 fibrillin 2 gene DOID:11193 syndactyly ISO RGD:733429 D RGD:9068941 20200609 RGD PMID:11285249|REF_RGD_ID:1300320 8997112 Fbn2 fibrillin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733428 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 8997112 Fbn2 fibrillin 2 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733428 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:16835936|PMID:17345643|PMID:17935258|PMID:18414213|PMID:19006240|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:26038974|PMID:26257771|PMID:28492532|PMID:28831199|PMID:31096651|PMID:32534992|PMID:33435129 8997112 Fbn2 fibrillin 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29910053|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098 8997112 Fbn2 fibrillin 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733428 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:27854218|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29910053|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098 8997112 Fbn2 fibrillin 2 gene DOID:14323 Marfan syndrome ISO RGD:733428 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndrome PMID:16677079|PMID:18767143|PMID:25741868|PMID:28492532|PMID:29501612|PMID:3495735|PMID:4750422 8997112 Fbn2 fibrillin 2 gene DOID:2340 craniosynostosis ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:25741868|PMID:28492532 8997112 Fbn2 fibrillin 2 gene DOID:520 aortic disease ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortopathy 8997112 Fbn2 fibrillin 2 gene DOID:630 genetic disease ISO RGD:733428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10797416|PMID:11754102|PMID:16531736|PMID:19006240|PMID:24899048|PMID:25741868|PMID:28383543|PMID:28492532|PMID:8653794|PMID:8900230 8997112 Fbn2 fibrillin 2 gene DOID:65 connective tissue disease ISO RGD:733428 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:16835936|PMID:17345643|PMID:17935258|PMID:18414213|PMID:19006240|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:28492532|PMID:31316167|PMID:33435129 8997112 Fbn2 fibrillin 2 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arterial dissection 8997112 Fbn2 fibrillin 2 gene DOID:9002189 High Myopia ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 8997112 Fbn2 fibrillin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 8997112 Fbn2 fibrillin 2 gene DOID:9006437 Macular Degeneration, Early-Onset ISO RGD:733428 D RGD:7240710 20180130 OMIM 8997112 Fbn2 fibrillin 2 gene DOID:9006437 Macular Degeneration, Early-Onset ISO RGD:733428 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: FBN2-related condition | ClinVar Annotator: match by term: Macular degeneration, early-onset PMID:11754102|PMID:16199547|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:19006240|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29926239|PMID:31096651|PMID:9536098 8997112 Fbn2 fibrillin 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8997112 Fbn2 fibrillin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8997112 Fbn2 fibrillin 2 gene DOID:9008086 Developmental Disabilities ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30311386 8997112 Fbn2 fibrillin 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733428 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532 8997112 Fbn2 fibrillin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 8997112 Fbn2 fibrillin 2 gene DOID:9009005 Familial Thoracic Aortic Aneurysm 2 ISO RGD:733428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2 8997198 Hivep3 HIVEP zinc finger 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8997198 Hivep3 HIVEP zinc finger 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8997221 Ctsf cathepsin F gene DOID:0110727 neuronal ceroid lipofuscinosis 13 ISO RGD:1317809 D RGD:7240710 20180130 OMIM 8997221 Ctsf cathepsin F gene DOID:0110727 neuronal ceroid lipofuscinosis 13 ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13 PMID:16199547|PMID:17576681|PMID:17828264|PMID:23297359|PMID:25274848|PMID:25741868|PMID:26467025|PMID:27120077|PMID:27524508|PMID:28492532|PMID:9536098 8997221 Ctsf cathepsin F gene DOID:1059 intellectual disability ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8997221 Ctsf cathepsin F gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317809 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8997221 Ctsf cathepsin F gene DOID:630 genetic disease ISO RGD:1317809 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17828264|PMID:23297359|PMID:25274848|PMID:25741868|PMID:26467025|PMID:27120077|PMID:27524508|PMID:28492532 8997221 Ctsf cathepsin F gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1317809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 8997221 Ctsf cathepsin F gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8997221 Ctsf cathepsin F gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1317809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 8997221 Ctsf cathepsin F gene DOID:9008582 Developmental Disease ISO RGD:1317809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 8997239 Suv39h2 SUV39H2 histone lysine methyltransferase gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8997239 Suv39h2 SUV39H2 histone lysine methyltransferase gene DOID:0080915 histiocytic sarcoma ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:25741868 8997239 Suv39h2 SUV39H2 histone lysine methyltransferase gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1315884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:25741868|PMID:28492532 8997239 Suv39h2 SUV39H2 histone lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1315884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997239 Suv39h2 SUV39H2 histone lysine methyltransferase gene DOID:9000954 Parakeratosis ISO RGD:12434198 D RGD:9068941 20230824 OMIA Nasal parakeratosis PMID:12662268|PMID:12895224|PMID:24098150|PMID:29423952|PMID:32119674|PMID:37582787 8997249 Sdc4 syndecan 4 gene DOID:0080600 COVID-19 ISO RGD:730877 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8997249 Sdc4 syndecan 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:730877 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 8997249 Sdc4 syndecan 4 gene DOID:104 bacterial infectious disease ISO RGD:3650 D RGD:9068941 20200609 RGD PMID:15001228|REF_RGD_ID:2312325 8997249 Sdc4 syndecan 4 gene DOID:2234 focal epilepsy ISO RGD:730877 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 8997249 Sdc4 syndecan 4 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919003 8997249 Sdc4 syndecan 4 gene DOID:5844 myocardial infarction ISO RGD:730877 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11372670|REF_RGD_ID:2312328 8997249 Sdc4 syndecan 4 gene DOID:630 genetic disease ISO RGD:730877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997249 Sdc4 syndecan 4 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:730877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 8997249 Sdc4 syndecan 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 8997275 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:0080600 COVID-19 ISO RGD:1319922 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8997275 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8997275 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:1826 epilepsy ISO RGD:1319922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8997275 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319922 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8997275 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:630 genetic disease ISO RGD:1319922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997275 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8997275 Paqr4 progestin and adipoQ receptor family member 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1319922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27415467 8997286 Asf1a anti-silencing function 1A histone chaperone gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1323657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 8997286 Asf1a anti-silencing function 1A histone chaperone gene DOID:1059 intellectual disability ISO RGD:1323657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 8997286 Asf1a anti-silencing function 1A histone chaperone gene DOID:10907 microcephaly ISO RGD:1323657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 8997286 Asf1a anti-silencing function 1A histone chaperone gene DOID:12849 autistic disorder ISO RGD:1323657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:24824130 8997286 Asf1a anti-silencing function 1A histone chaperone gene DOID:1826 epilepsy ISO RGD:1323657 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8997286 Asf1a anti-silencing function 1A histone chaperone gene DOID:1909 melanoma ISO RGD:1323657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 8997286 Asf1a anti-silencing function 1A histone chaperone gene DOID:630 genetic disease ISO RGD:1323657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997286 Asf1a anti-silencing function 1A histone chaperone gene DOID:9000495 Tremor ISO RGD:1323657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 8997293 Arrb2 arrestin beta 2 gene DOID:0050741 alcohol dependence ISO RGD:2157 D RGD:9068941 20231214 RGD mRNA:decreased expression:nucleus accumbens PMID:34919270|REF_RGD_ID:401938593 8997293 Arrb2 arrestin beta 2 gene DOID:0050742 nicotine dependence severity ISO RGD:731570 D RGD:9068941 20231214 RGD DNA,SNPs,haplotype: : PMID:17579607|REF_RGD_ID:401901594 8997293 Arrb2 arrestin beta 2 gene DOID:0050855 renal fibrosis ISO RGD:10192 D RGD:9068941 20200609 RGD associated with ureteral obstruction;mRNA, protein:increased expression:kidney PMID:28274926|REF_RGD_ID:13506828 8997293 Arrb2 arrestin beta 2 gene DOID:0060145 pain agnosia ISO RGD:10192 D RGD:9068941 20231214 RGD PMID:19399231|REF_RGD_ID:401901598 8997293 Arrb2 arrestin beta 2 gene DOID:10762 portal hypertension ISO RGD:731570 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;protein:increased expression:mesenteric artery PMID:24337852|REF_RGD_ID:13506901 8997293 Arrb2 arrestin beta 2 gene DOID:10762 portal hypertension treatment ISO RGD:2157 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:24719556|REF_RGD_ID:13506899 8997293 Arrb2 arrestin beta 2 gene DOID:10763 hypertension ISO RGD:2157 D RGD:9068941 20200609 RGD protein:decreased expression:rostral ventrolateral medulla PMID:27861247|REF_RGD_ID:13506896 8997293 Arrb2 arrestin beta 2 gene DOID:1742 drug psychosis ISO RGD:2157 D RGD:9068941 20231214 RGD protein:increased expression:striatum PMID:26174132|REF_RGD_ID:11534754 8997293 Arrb2 arrestin beta 2 gene DOID:2559 opiate dependence ISO RGD:731570 D RGD:9068941 20231214 RGD protein:decreased expression:pre-frontal cortex PMID:14969742|REF_RGD_ID:401901596 8997293 Arrb2 arrestin beta 2 gene DOID:2559 opiate dependence treatment ISO RGD:731570 D RGD:9068941 20231214 RGD DNA:SNPs: :rs3786047, rs1045280, rs2036657(human) PMID:20514076|REF_RGD_ID:401901595 8997293 Arrb2 arrestin beta 2 gene DOID:3068 glioblastoma ameliorates ISO RGD:731570 D RGD:9068941 20231214 RGD PMID:34007068|REF_RGD_ID:401938608 8997293 Arrb2 arrestin beta 2 gene DOID:3454 brain infarction ISO RGD:2157 D RGD:9068941 20231214 RGD protein:increased expression:spleen PMID:29636059|REF_RGD_ID:401938621 8997293 Arrb2 arrestin beta 2 gene DOID:5082 liver cirrhosis ISO RGD:731570 D RGD:9068941 20231214 RGD protein:increased expression:hepatic artery PMID:17256744|REF_RGD_ID:1625784 8997293 Arrb2 arrestin beta 2 gene DOID:630 genetic disease ISO RGD:731570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997293 Arrb2 arrestin beta 2 gene DOID:670 amphetamine abuse ISO RGD:731570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17233643 8997293 Arrb2 arrestin beta 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2157 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 8997293 Arrb2 arrestin beta 2 gene DOID:9001310 Tobacco Use Disorder ISO RGD:731570 D RGD:9068941 20231214 RGD DNA:polymorphisms:cds:p.T84P, p.H281Q (human) PMID:25450229|REF_RGD_ID:11526246 8997293 Arrb2 arrestin beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2157 D RGD:9068941 20231214 RGD protein:increased expression:aorta PMID:17256744|REF_RGD_ID:1625784 8997293 Arrb2 arrestin beta 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731570 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8997293 Arrb2 arrestin beta 2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2157 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:21167192|REF_RGD_ID:5509890 8997293 Arrb2 arrestin beta 2 gene DOID:9002457 Experimental Arthritis ISO RGD:2157 D RGD:9068941 20200609 RGD protein:increased expression:knee, synoviocyte (rat) PMID:20965243|REF_RGD_ID:5509895 8997293 Arrb2 arrestin beta 2 gene DOID:9004283 Transplant Rejection ISO RGD:2157 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:blood, leukocyte, monocyte PMID:21193245|REF_RGD_ID:13506894 8997293 Arrb2 arrestin beta 2 gene DOID:9005605 Arteriovenous Fistula ISO RGD:2157 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:left ventricle (rat) PMID:22015551|REF_RGD_ID:5509867 8997293 Arrb2 arrestin beta 2 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:731570 D RGD:9068941 20231214 RGD protein:increased expression:hepatocyte PMID:33871024|REF_RGD_ID:401938594 8997293 Arrb2 arrestin beta 2 gene DOID:9006944 Alcoholic Fatty Liver ameliorates ISO RGD:10192 D RGD:9068941 20231214 RGD PMID:33871024|REF_RGD_ID:401938594 8997293 Arrb2 arrestin beta 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2157 D RGD:9068941 20200609 RGD PMID:29016703|REF_RGD_ID:13506827 8997293 Arrb2 arrestin beta 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2157 D RGD:9068941 20200609 RGD PMID:24337852|REF_RGD_ID:13506901 8997293 Arrb2 arrestin beta 2 gene DOID:9976 heroin dependence ISO RGD:731570 D RGD:9068941 20231214 RGD DNA:polymorphism: :rs1045280(human) PMID:33783060|REF_RGD_ID:401901593 8997293 Arrb2 arrestin beta 2 gene DOID:9976 heroin dependence treatment ISO RGD:731570 D RGD:9068941 20240302 RGD associated with methadone treatment;DNA:SNP:intron (rs1045280) (human) PMID:29173032|REF_RGD_ID:401976557 8997334 Arsh arylsulfatase family member H gene DOID:0060041 autism spectrum disorder ISO RGD:1605805 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8997334 Arsh arylsulfatase family member H gene DOID:12849 autistic disorder ISO RGD:1605805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8997334 Arsh arylsulfatase family member H gene DOID:630 genetic disease ISO RGD:1605805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997334 Arsh arylsulfatase family member H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8997349 Syvn1 synoviolin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8997349 Syvn1 synoviolin 1 gene DOID:1059 intellectual disability ISO RGD:1603603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8997349 Syvn1 synoviolin 1 gene DOID:1826 epilepsy ISO RGD:1603603 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 8997349 Syvn1 synoviolin 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8997349 Syvn1 synoviolin 1 gene DOID:2746 glycogen storage disease V ISO RGD:1603603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 8997349 Syvn1 synoviolin 1 gene DOID:3070 high grade glioma ISO RGD:1603603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8997349 Syvn1 synoviolin 1 gene DOID:630 genetic disease ISO RGD:1603603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997375 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1319904 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 8997375 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1319904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 8997375 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:1059 intellectual disability ISO RGD:1319904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disability with severe speech impairment PMID:25741868 8997375 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:630 genetic disease ISO RGD:1319904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997375 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:6420 pulmonary valve stenosis ISO RGD:1319904 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 8997375 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:8445 intestinal volvulus ISO RGD:1319904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 8997375 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1319904 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 8997375 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8997375 Kcng2 potassium voltage-gated channel modifier subfamily G member 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1319904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:0050700 cardiomyopathy ISO RGD:619569 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33171190 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:0060500 drug allergy ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20216337 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human) PMID:18926681|REF_RGD_ID:14700775 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:114 heart disease ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:11832 visual epilepsy treatment ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:12663688|REF_RGD_ID:704399 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:2366 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15770136|REF_RGD_ID:14700810 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12236 primary biliary cholangitis ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15542527 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:619569 D RGD:7240710 20180130 OMIM 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome ISO RGD:619569 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ABCC2-related condition | ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:10053008|PMID:10464142|PMID:11266082|PMID:11477083|PMID:11901087|PMID:12388192|PMID:12395335|PMID:12942343|PMID:15180328|PMID:15519273|PMID:15777714|PMID:15821043|PMID:15870973|PMID:16012956|PMID:16199547|PMID:16549534|PMID:16847695|PMID:16952291|PMID:17576681|PMID:18334920|PMID:18445995|PMID:18673259|PMID:18974617|PMID:20799350|PMID:20849526|PMID:20981092|PMID:21044052|PMID:21449672|PMID:21691255|PMID:22290738|PMID:22318656|PMID:23557583|PMID:24033266|PMID:25087612|PMID:25111166|PMID:25336012|PMID:25741868|PMID:25741895|PMID:26350512|PMID:27604170|PMID:27706244|PMID:27882152|PMID:28492532|PMID:28713894|PMID:29499989|PMID:30344695|PMID:30366773|PMID:31450232|PMID:31544333|PMID:31564432|PMID:32183854|PMID:32758197|PMID:33585635|PMID:35477852|PMID:36777185|PMID:9185779|PMID:9425227|PMID:9536098|PMID:9878557 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:12308 Dubin-Johnson syndrome susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD PMID:10053008|REF_RGD_ID:1598616 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13250 diarrhea ISO RGD:619569 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32387182 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:12702498|PMID:16037978|PMID:17009103|REF_RGD_ID:11081011|REF_RGD_ID:1598571|REF_RGD_ID:1598614 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:intestine: PMID:15057744|REF_RGD_ID:11081007 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10869290|PMID:17681005|PMID:22521610 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis disease_progression ISO RGD:619569 D RGD:9068941 20200609 RGD protein:decreased expression:intestine: PMID:15057744|REF_RGD_ID:11081007 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:13580 cholestasis treatment ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:1793 pancreatic cancer ISO RGD:619569 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:19020751|REF_RGD_ID:2317509 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:1824 status epilepticus ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16504477|REF_RGD_ID:1598613 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:1824 status epilepticus ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16504477 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2044 drug-induced hepatitis no_association ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNPs:multiple: PMID:22178260|REF_RGD_ID:14700817 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2044 drug-induced hepatitis susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:promoter:g.-1774delG,g.-1549G>A(human) PMID:17502832|REF_RGD_ID:14700816 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:619569 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:15870973|PMID:28492532|PMID:29499989|PMID:9878557 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:10368 D RGD:9068941 20200609 RGD PMID:16899240|REF_RGD_ID:1598605 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16899240|REF_RGD_ID:1598605 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:8662992|REF_RGD_ID:631914 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16611851 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder ISO RGD:619569 D RGD:9068941 20200609 RGD PMID:16899240|REF_RGD_ID:1598605 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:2741 bilirubin metabolic disorder treatment ISO RGD:619569 D RGD:9068941 20200609 RGD PMID:15846474|REF_RGD_ID:11081004 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21206495 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNPs: :-24C>T, 3972C>T(human) PMID:17534875|REF_RGD_ID:11080964 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:4947 cholangiocarcinoma susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:c.3972C>T (human) PMID:19451719|REF_RGD_ID:2317508 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:630 genetic disease ISO RGD:619569 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16549534|PMID:16952291|PMID:25741868|PMID:28492532|PMID:31450232|PMID:9185779 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:7148 rheumatoid arthritis ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:77 gastrointestinal system disease ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:783 end stage renal disease ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:17135344|REF_RGD_ID:2301067 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human) PMID:25060527|REF_RGD_ID:11080961 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:863 nervous system disease ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21064136 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9004486 Drug-induced Neutropenia no_association ISO RGD:619569 D RGD:9068941 20200609 RGD associated with neoplasm;DNA:SNP:rs12762549(human) PMID:23188068|REF_RGD_ID:11080999 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD associated with neoplasm;DNA:SNP:rs12762549(human) PMID:18294295|REF_RGD_ID:11080980 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9004590 Acute Liver Failure ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16899240|REF_RGD_ID:1598605 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) PMID:20943283|REF_RGD_ID:11080978 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA: increased expression: brain PMID:17664251|REF_RGD_ID:2312730 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:20487213|REF_RGD_ID:11541075 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD protein: increased expression PMID:19356064|REF_RGD_ID:2312728 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9005930 Endotoxemia ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16572733|REF_RGD_ID:1598611 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:619569 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:20216337|PMID:23222202|PMID:25007187|PMID:32387182 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794|PMID:18466103 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:619569 D RGD:9068941 20200609 RGD PMID:25196354|REF_RGD_ID:14700812 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-24C>T(human) PMID:17241877|REF_RGD_ID:14700814 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:10368 D RGD:9068941 20200609 RGD protein: increased expression PMID:18189363|REF_RGD_ID:2312726 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA: decreased expression: liver PMID:15319330|REF_RGD_ID:2312736 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2366 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:25152023|REF_RGD_ID:14700811 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9452 steatotic liver disease ISO RGD:2366 D RGD:9068941 20200609 RGD PMID:16139386|REF_RGD_ID:1598602 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:987 alopecia ISO RGD:619569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNP:5'UTR:rs717620(human) PMID:24404132|REF_RGD_ID:11080959 8997399 Abcc2 ATP binding cassette subfamily C member 2 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:619569 D RGD:9068941 20200609 RGD DNA:SNPs: :rs717620(human) PMID:25007187|REF_RGD_ID:11080979 8997435 Prss22 serine protease 22 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1322033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 8997435 Prss22 serine protease 22 gene DOID:10283 prostate cancer ISO RGD:1322033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8997435 Prss22 serine protease 22 gene DOID:1826 epilepsy ISO RGD:1322033 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 8997435 Prss22 serine protease 22 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322033 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8997435 Prss22 serine protease 22 gene DOID:630 genetic disease ISO RGD:1322033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997445 Mettl22 methyltransferase 22, Kin17 lysine gene DOID:630 genetic disease ISO RGD:1601964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997445 Mettl22 methyltransferase 22, Kin17 lysine gene DOID:9001064 Hao-Fountain Syndrome ISO RGD:1601964 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hao-Fountain syndrome 8997466 Lum lumican gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:1344357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 8997466 Lum lumican gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734193 D RGD:9068941 20220825 MouseDO OMIM:130000 8997466 Lum lumican gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1344357 D RGD:9068941 20200609 RGD PMID:17671699|REF_RGD_ID:2317682 8997466 Lum lumican gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1344357 D RGD:9068941 20200609 RGD DNA:SNP: :rs2268578 (human) PMID:19843670|REF_RGD_ID:2317230 8997466 Lum lumican gene DOID:3393 coronary artery disease ISO RGD:1344357 D RGD:9068941 20200609 RGD PMID:11890723|REF_RGD_ID:1582121 8997466 Lum lumican gene DOID:3407 carotid artery disease ISO RGD:1344357 D RGD:9068941 20200609 RGD PMID:15970583|REF_RGD_ID:1582117 8997466 Lum lumican gene DOID:5082 liver cirrhosis ISO RGD:1344357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 8997466 Lum lumican gene DOID:5199 ureteral obstruction ISO RGD:620984 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12787392|REF_RGD_ID:2317694 8997466 Lum lumican gene DOID:630 genetic disease ISO RGD:1344357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997466 Lum lumican gene DOID:799 varicose veins ISO RGD:1344357 D RGD:9068941 20200609 RGD PMID:15871312|REF_RGD_ID:1582120 8997466 Lum lumican gene DOID:9000039 Spinal Cord Injuries ISO RGD:620984 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18482974|REF_RGD_ID:2317692 8997466 Lum lumican gene DOID:9000784 Fibrosis ISO RGD:620984 D RGD:9068941 20200609 RGD associated with Pancreatitis;mRNA, protein:increased expression, altered localization:pancreas PMID:12645630|REF_RGD_ID:724427 8997466 Lum lumican gene DOID:9000784 Fibrosis ISO RGD:620984 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:1385211|REF_RGD_ID:2317695 8997466 Lum lumican gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8997466 Lum lumican gene DOID:9001600 Wounds and Injuries ISO RGD:1344357 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24367547 8997466 Lum lumican gene DOID:9006474 Arterial Occlusive Diseases disease_progression ISO RGD:1344357 D RGD:9068941 20230831 RGD mRNA:increased expression:leg blood vessel (human) PMID:22721676|REF_RGD_ID:401793723 8997466 Lum lumican gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620984 D RGD:9068941 20200609 RGD PMID:11348051|REF_RGD_ID:1582122 8997473 Ttll5 tubulin tyrosine ligase like 5 gene DOID:0050572 cone-rod dystrophy ISO RGD:1350630 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:16199547|PMID:24791901|PMID:25741868|PMID:27162334|PMID:28492532|PMID:36909829 8997473 Ttll5 tubulin tyrosine ligase like 5 gene DOID:0111025 cone-rod dystrophy 19 ISO RGD:1350630 D RGD:7240710 20180130 OMIM 8997473 Ttll5 tubulin tyrosine ligase like 5 gene DOID:0111025 cone-rod dystrophy 19 ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 19 | ClinVar Annotator: match by term: TTLL5-related condition PMID:24791901|PMID:25741868|PMID:27162334|PMID:28173158|PMID:28492532 8997473 Ttll5 tubulin tyrosine ligase like 5 gene DOID:10584 retinitis pigmentosa ISO RGD:1350630 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24791901|PMID:25741868|PMID:27162334|PMID:28492532|PMID:32531858 8997473 Ttll5 tubulin tyrosine ligase like 5 gene DOID:1059 intellectual disability ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 8997473 Ttll5 tubulin tyrosine ligase like 5 gene DOID:630 genetic disease ISO RGD:1350630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8997473 Ttll5 tubulin tyrosine ligase like 5 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8997473 Ttll5 tubulin tyrosine ligase like 5 gene DOID:8501 fundus dystrophy ISO RGD:1350630 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24791901|PMID:25741868|PMID:27162334|PMID:28173158|PMID:28492532|PMID:32531858 8997473 Ttll5 tubulin tyrosine ligase like 5 gene DOID:980 choroidal sclerosis ISO RGD:1350630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central areolar choroidal dystrophy PMID:25741868 8997537 Dpy30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:0090065 familial cold autoinflammatory syndrome 4 ISO RGD:1603291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 PMID:28492532 8997537 Dpy30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:0110792 hereditary spastic paraplegia 4 ISO RGD:1603291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25065914|PMID:28492532 8997537 Dpy30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:607 paraplegia ISO RGD:1603291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 8997537 Dpy30 dpy-30 histone methyltransferase complex regulatory subunit gene DOID:9008410 Autoinflammation with Infantile Enterocolitis ISO RGD:1603291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis PMID:28492532 8997551 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8997551 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 8997551 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1346757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 8997551 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1346757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 8997551 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346757 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 8997551 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1346757 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:15879500|PMID:20414677|PMID:28492532 8997551 Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase like 1 gene DOID:630 genetic disease ISO RGD:1346757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997578 Shmt2 serine hydroxymethyltransferase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318437 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26482881 8997578 Shmt2 serine hydroxymethyltransferase 2 gene DOID:630 genetic disease ISO RGD:1318437 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997578 Shmt2 serine hydroxymethyltransferase 2 gene DOID:6846 familial melanoma ISO RGD:1318437 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 8997578 Shmt2 serine hydroxymethyltransferase 2 gene DOID:9001963 NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES ISO RGD:1318437 D RGD:7240710 20210120 OMIM 8997578 Shmt2 serine hydroxymethyltransferase 2 gene DOID:9001963 NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES ISO RGD:1318437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition PMID:25741868|PMID:33015733 8997578 Shmt2 serine hydroxymethyltransferase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318437 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:33015733 8997596 Tbc1d8b TBC1 domain family member 8B gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1606538 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 8997596 Tbc1d8b TBC1 domain family member 8B gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8997596 Tbc1d8b TBC1 domain family member 8B gene DOID:0070357 nephrotic syndrome type 20 ISO RGD:1606538 D RGD:7240710 20190731 OMIM 8997596 Tbc1d8b TBC1 domain family member 8B gene DOID:0070357 nephrotic syndrome type 20 ISO RGD:1606538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 20 PMID:25741868|PMID:28492532|PMID:30661770|PMID:31732614 8997596 Tbc1d8b TBC1 domain family member 8B gene DOID:1184 nephrotic syndrome ISO RGD:1606538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:31732614 8997596 Tbc1d8b TBC1 domain family member 8B gene DOID:12849 autistic disorder ISO RGD:1606538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8997596 Tbc1d8b TBC1 domain family member 8B gene DOID:630 genetic disease ISO RGD:1606538 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532 8997621 Piwil1 piwi like RNA-mediated gene silencing 1 gene DOID:303 substance-related disorder ISO RGD:1315902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 8997621 Piwil1 piwi like RNA-mediated gene silencing 1 gene DOID:630 genetic disease ISO RGD:1315902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997650 Cep104 centrosomal protein 104 gene DOID:0050753 cerebellar ataxia ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:32581362 8997650 Cep104 centrosomal protein 104 gene DOID:0050777 Joubert syndrome ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders 8997650 Cep104 centrosomal protein 104 gene DOID:0050777 Joubert syndrome ISO RGD:1605416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:26477546|PMID:28492532|PMID:35372954 8997650 Cep104 centrosomal protein 104 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8997650 Cep104 centrosomal protein 104 gene DOID:0060041 autism spectrum disorder ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8997650 Cep104 centrosomal protein 104 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8997650 Cep104 centrosomal protein 104 gene DOID:0081236 autosomal recessive intellectual developmental disorder 77 ISO RGD:1605416 D RGD:7240710 20220831 OMIM 8997650 Cep104 centrosomal protein 104 gene DOID:0081236 autosomal recessive intellectual developmental disorder 77 ISO RGD:1605416 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 77 PMID:34196201|PMID:35359234 8997650 Cep104 centrosomal protein 104 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605416 D RGD:7240710 20190315 OMIM 8997650 Cep104 centrosomal protein 104 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1605416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:17576681|PMID:19492091|PMID:21031596|PMID:25741868|PMID:26477546|PMID:28492532|PMID:31674007|PMID:35372954|PMID:9536098|PMID:9683594 8997650 Cep104 centrosomal protein 104 gene DOID:0111934 immunodeficiency 38 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8997650 Cep104 centrosomal protein 104 gene DOID:0111935 immunodeficiency 16 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8997650 Cep104 centrosomal protein 104 gene DOID:630 genetic disease ISO RGD:1605416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8997650 Cep104 centrosomal protein 104 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8997650 Cep104 centrosomal protein 104 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1605416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 8997689 Smim14 small integral membrane protein 14 gene DOID:630 genetic disease ISO RGD:1606130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997689 Smim14 small integral membrane protein 14 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1606130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 8997702 Pnp purine nucleoside phosphorylase gene DOID:0080600 COVID-19 ISO RGD:1349909 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8997702 Pnp purine nucleoside phosphorylase gene DOID:11476 osteoporosis ISO RGD:1349909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 8997702 Pnp purine nucleoside phosphorylase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349909 D RGD:7240710 20180130 OMIM 8997702 Pnp purine nucleoside phosphorylase gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1349909 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:11453975|PMID:12483996|PMID:1384322|PMID:15571269|PMID:1560016|PMID:16199547|PMID:17407325|PMID:17576681|PMID:19759001|PMID:22132981|PMID:22578971|PMID:22669887|PMID:23371835|PMID:24033266|PMID:24767876|PMID:25741868|PMID:28492532|PMID:3029074|PMID:30778343|PMID:31130284|PMID:32514656|PMID:32695102|PMID:33628209|PMID:8931706|PMID:9067751|PMID:9536098|PMID:9737781 8997702 Pnp purine nucleoside phosphorylase gene DOID:627 severe combined immunodeficiency ISO RGD:1349909 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:1384322|PMID:22132981|PMID:23371835|PMID:24033266|PMID:24767876|PMID:25741868|PMID:28492532|PMID:33628209|PMID:9067751 8997702 Pnp purine nucleoside phosphorylase gene DOID:630 genetic disease ISO RGD:1349909 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8997702 Pnp purine nucleoside phosphorylase gene DOID:653 purine-pyrimidine metabolic disorder ISO RGD:1349909 D RGD:9068941 20200609 RGD nucleoside phosphorylase deficiency, OMIM:164050 PMID:3029074|REF_RGD_ID:1600263 8997702 Pnp purine nucleoside phosphorylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1349909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 8997702 Pnp purine nucleoside phosphorylase gene DOID:9007964 Arsenic Poisoning ISO RGD:1349909 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414634 8997714 Rtp1 receptor transporter protein 1 gene DOID:0060575 3MC syndrome 1 ISO RGD:1604751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 8997714 Rtp1 receptor transporter protein 1 gene DOID:630 genetic disease ISO RGD:1604751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997720 Rhbg Rh family B glycoprotein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 8997720 Rhbg Rh family B glycoprotein gene DOID:0111940 immunodeficiency 42 ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8997720 Rhbg Rh family B glycoprotein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8997720 Rhbg Rh family B glycoprotein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1351825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8997720 Rhbg Rh family B glycoprotein gene DOID:1540 parathyroid carcinoma ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8997720 Rhbg Rh family B glycoprotein gene DOID:5812 MHC class II deficiency ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8997720 Rhbg Rh family B glycoprotein gene DOID:630 genetic disease ISO RGD:1351825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997720 Rhbg Rh family B glycoprotein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0060327 omphalocele ISO RGD:1603682 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Omphalocoele PMID:25741868 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0080698 Teebi hypertelorism syndrome 1 ISO RGD:1603682 D RGD:7240710 20220608 OMIM 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0080698 Teebi hypertelorism syndrome 1 ISO RGD:1603682 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SPECC1L-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1 PMID:25412741|PMID:25741868|PMID:28492532|PMID:30472488|PMID:31953237|PMID:3228142|PMID:32954677 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0081073 Teebi hypertelorism syndrome ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Teebi hypertelorism syndrome PMID:17506099|PMID:25412741|PMID:25741868|PMID:25741869|PMID:26111080|PMID:28492532|PMID:30472488|PMID:31953237 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0111706 oblique facial clefting 1 ISO RGD:1603682 D RGD:7240710 20180130 OMIM 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:0111706 oblique facial clefting 1 ISO RGD:1603682 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oculomaxillofacial dysostosis PMID:21703590|PMID:25741868|PMID:28492532 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:10283 prostate cancer ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:1059 intellectual disability ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:11198 DiGeorge syndrome ISO RGD:1603682 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant Opitz G/BBB syndrome PMID:25741868|PMID:28492532 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:1826 epilepsy ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:5419 schizophrenia ISO RGD:1603682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:630 genetic disease ISO RGD:1603682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:674 cleft palate ISO RGD:1332016 D RGD:9068941 20220825 MouseDO 8997740 Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1603682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532|PMID:31837199 8997774 Tbc1d17 TBC1 domain family member 17 gene DOID:630 genetic disease ISO RGD:1320164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997820 Txnip thioredoxin interacting protein gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1343574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 8997820 Txnip thioredoxin interacting protein gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:732141 D RGD:9068941 20200609 RGD PMID:29482933|REF_RGD_ID:15090806 8997820 Txnip thioredoxin interacting protein gene DOID:0080600 COVID-19 ISO RGD:1343574 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 8997820 Txnip thioredoxin interacting protein gene DOID:0111027 hemochromatosis type 2A ISO RGD:1343574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 2A PMID:28492532 8997820 Txnip thioredoxin interacting protein gene DOID:10534 stomach cancer ISO RGD:620886 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach PMID:12553030|REF_RGD_ID:1642760 8997820 Txnip thioredoxin interacting protein gene DOID:14525 Reye syndrome ISO RGD:732141 D RGD:9068941 20220825 MouseDO 8997820 Txnip thioredoxin interacting protein gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1343574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 8997820 Txnip thioredoxin interacting protein gene DOID:1540 parathyroid carcinoma ISO RGD:1343574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8997820 Txnip thioredoxin interacting protein gene DOID:1686 glaucoma ISO RGD:620886 D RGD:9068941 20200609 RGD protein:increased expression:retinal ganglion cell PMID:18701913|REF_RGD_ID:2306193 8997820 Txnip thioredoxin interacting protein gene DOID:2018 hyperinsulinism susceptibility ISO RGD:732141 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:15047687|REF_RGD_ID:1642753 8997820 Txnip thioredoxin interacting protein gene DOID:289 endometriosis ISO RGD:1343574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 8997820 Txnip thioredoxin interacting protein gene DOID:4450 renal cell carcinoma ISO RGD:620886 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, decreased expression:promoter, kidney PMID:15834431|REF_RGD_ID:1642756 8997820 Txnip thioredoxin interacting protein gene DOID:5419 schizophrenia ISO RGD:1343574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8997820 Txnip thioredoxin interacting protein gene DOID:630 genetic disease ISO RGD:1343574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997820 Txnip thioredoxin interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:732141 D RGD:9068941 20220825 MouseDO OMIM:114550 8997820 Txnip thioredoxin interacting protein gene DOID:7148 rheumatoid arthritis ISO RGD:1343574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 8997820 Txnip thioredoxin interacting protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1343574 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35246762 8997820 Txnip thioredoxin interacting protein gene DOID:9000918 Disease Progression ISO RGD:1343574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16081686 8997820 Txnip thioredoxin interacting protein gene DOID:9002165 Diabetic Nephropathies ISO RGD:1343574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17582205 8997820 Txnip thioredoxin interacting protein gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:620886 D RGD:9068941 20200609 RGD mRNA:decreased expression:mammary gland PMID:15170812|REF_RGD_ID:1642758 8997820 Txnip thioredoxin interacting protein gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620886 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17675577|REF_RGD_ID:1642749 8997820 Txnip thioredoxin interacting protein gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1343574 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP:3' utr PMID:17381501|REF_RGD_ID:1642750 8997820 Txnip thioredoxin interacting protein gene DOID:9007102 Myocardial Ischemia ISO RGD:620886 D RGD:9068941 20200609 RGD PMID:16172122|REF_RGD_ID:1580789 8997820 Txnip thioredoxin interacting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8997820 Txnip thioredoxin interacting protein gene DOID:9256 colorectal cancer disease_progression ISO RGD:620886 D RGD:9068941 20200609 RGD mRNA:decreased expression:stomach PMID:12553030|REF_RGD_ID:1642760 8997832 Dvl3 dishevelled segment polarity protein 3 gene DOID:0060254 Robinow syndrome ISO RGD:1318833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8997832 Dvl3 dishevelled segment polarity protein 3 gene DOID:0060765 autosomal dominant Robinow syndrome 2 ISO RGD:1318833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530|PMID:29276006 8997832 Dvl3 dishevelled segment polarity protein 3 gene DOID:0060766 autosomal dominant Robinow syndrome 1 ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530 8997832 Dvl3 dishevelled segment polarity protein 3 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:1318833 D RGD:7240710 20190315 OMIM 8997832 Dvl3 dishevelled segment polarity protein 3 gene DOID:0060767 autosomal dominant Robinow syndrome 3 ISO RGD:1318833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 | ClinVar Annotator: match by term: DVL3-related condition PMID:23806086|PMID:24088041|PMID:25741868|PMID:26924530|PMID:28492532 8997832 Dvl3 dishevelled segment polarity protein 3 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1318833 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8997832 Dvl3 dishevelled segment polarity protein 3 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1318833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8997832 Dvl3 dishevelled segment polarity protein 3 gene DOID:0111546 Currarino syndrome ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8997832 Dvl3 dishevelled segment polarity protein 3 gene DOID:1324 lung cancer ISO RGD:1318833 D RGD:9068941 20220721 RGD DNA:SNP:intron:rs1969253 (human) PMID:29193083|REF_RGD_ID:153297750 8997832 Dvl3 dishevelled segment polarity protein 3 gene DOID:630 genetic disease ISO RGD:1318833 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8997832 Dvl3 dishevelled segment polarity protein 3 gene DOID:9007661 Dwarfism ISO RGD:1318833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 8997851 Nicol1 NELL2 interacting cell ontogeny regulator 1 gene DOID:1856 cherubism ISO RGD:2301122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 8997851 Nicol1 NELL2 interacting cell ontogeny regulator 1 gene DOID:630 genetic disease ISO RGD:2301122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997869 Nppa natriuretic peptide A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:730878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 8997869 Nppa natriuretic peptide A gene DOID:0050685 small cell carcinoma ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18717826 8997869 Nppa natriuretic peptide A gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:730878 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 8997869 Nppa natriuretic peptide A gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:730878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8997869 Nppa natriuretic peptide A gene DOID:0080662 atrial standstill 1 ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8997869 Nppa natriuretic peptide A gene DOID:0080663 atrial standstill 2 ISO RGD:730878 D RGD:7240710 20180130 OMIM 8997869 Nppa natriuretic peptide A gene DOID:0080663 atrial standstill 2 ISO RGD:730878 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Atrial standstill 2 | ClinVar Annotator: match by term: NPPA-related condition PMID:23275345|PMID:25741868|PMID:28492532|PMID:6225642 8997869 Nppa natriuretic peptide A gene DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 ISO RGD:730878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 PMID:28492532 8997869 Nppa natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:3193 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20139323|REF_RGD_ID:7248593 8997869 Nppa natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8763405 8997869 Nppa natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:15241786|REF_RGD_ID:7248617 8997869 Nppa natriuretic peptide A gene DOID:1073 renal hypertension ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Hypertension;protein:increased expression:plasma PMID:12697975|REF_RGD_ID:7248660 8997869 Nppa natriuretic peptide A gene DOID:10763 hypertension ISO RGD:11003 D RGD:9068941 20220825 MouseDO 8997869 Nppa natriuretic peptide A gene DOID:10763 hypertension ISO RGD:3193 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20139323|REF_RGD_ID:7248593 8997869 Nppa natriuretic peptide A gene DOID:10763 hypertension ISO RGD:730878 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12940879|PMID:19219041|PMID:24039778|PMID:2526952|PMID:32147540|PMID:7839143|PMID:8188982|PMID:9869009 8997869 Nppa natriuretic peptide A gene DOID:114 heart disease ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma PMID:12916000|REF_RGD_ID:2313591 8997869 Nppa natriuretic peptide A gene DOID:114 heart disease ISO RGD:730878 D RGD:9068941 20221027 RGD mRNA, protein:increased expression:heart (human) PMID:26597775|REF_RGD_ID:11554891 8997869 Nppa natriuretic peptide A gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:3193 D RGD:9068941 20200609 RGD protein:decreased expression:cardiomyocyte PMID:25820375|REF_RGD_ID:13792650 8997869 Nppa natriuretic peptide A gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:3193 D RGD:9068941 20230824 RGD mRNA:increased expression:heatt (rat) PMID:24247421|REF_RGD_ID:401793741 8997869 Nppa natriuretic peptide A gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:3193 D RGD:9068941 20230831 RGD mRNA:increased expression:heart (rat) PMID:19889059|REF_RGD_ID:401794453 8997869 Nppa natriuretic peptide A gene DOID:11984 hypertrophic cardiomyopathy treatment ISO RGD:11003 D RGD:9068941 20221110 RGD protein:increased expression:heart (human) PMID:27249171|REF_RGD_ID:155646134 8997869 Nppa natriuretic peptide A gene DOID:12930 dilated cardiomyopathy ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11986409|PMID:16762803 8997869 Nppa natriuretic peptide A gene DOID:12930 dilated cardiomyopathy ISO RGD:730878 D RGD:9068941 20230415 RGD mRNA,protein:increased expression:heart (human) PMID:24275554|REF_RGD_ID:11252017 8997869 Nppa natriuretic peptide A gene DOID:13832 patent ductus arteriosus ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1421905 8997869 Nppa natriuretic peptide A gene DOID:1909 melanoma ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18004088 8997869 Nppa natriuretic peptide A gene DOID:2316 brain ischemia no_association ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:polymorphism:G664A PMID:11706124|REF_RGD_ID:1626244 8997869 Nppa natriuretic peptide A gene DOID:2527 nephrosis ISO RGD:3193 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8289999|REF_RGD_ID:7247315 8997869 Nppa natriuretic peptide A gene DOID:2921 glomerulonephritis ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Streptococcal Infections;protein:increased expression:plasma PMID:12654066|REF_RGD_ID:7248663 8997869 Nppa natriuretic peptide A gene DOID:299 adenocarcinoma ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18225537 8997869 Nppa natriuretic peptide A gene DOID:3021 acute kidney failure ISO RGD:3193 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:22209992|REF_RGD_ID:7247715 8997869 Nppa natriuretic peptide A gene DOID:3021 acute kidney failure ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:1825077|PMID:19298916|PMID:2948068 8997869 Nppa natriuretic peptide A gene DOID:3393 coronary artery disease ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:snp:cds:c.2238T>C (human) PMID:12514664|REF_RGD_ID:1579982 8997869 Nppa natriuretic peptide A gene DOID:3393 coronary artery disease ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:exon: 2238T>C,rs5065 (human) PMID:22170009|REF_RGD_ID:7247716 8997869 Nppa natriuretic peptide A gene DOID:4248 coronary stenosis ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721106 8997869 Nppa natriuretic peptide A gene DOID:5082 liver cirrhosis ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15613622 8997869 Nppa natriuretic peptide A gene DOID:5199 ureteral obstruction ISO RGD:11003 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:plasma, kidney: PMID:19223006|REF_RGD_ID:7247722 8997869 Nppa natriuretic peptide A gene DOID:5199 ureteral obstruction ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:19223006|REF_RGD_ID:7247722 8997869 Nppa natriuretic peptide A gene DOID:5199 ureteral obstruction ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 8997869 Nppa natriuretic peptide A gene DOID:57 aortic valve insufficiency ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 8997869 Nppa natriuretic peptide A gene DOID:5844 myocardial infarction ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:16087130|REF_RGD_ID:1580000 8997869 Nppa natriuretic peptide A gene DOID:5844 myocardial infarction ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11743230|PMID:9527094 8997869 Nppa natriuretic peptide A gene DOID:5844 myocardial infarction ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:snp:cds:c.2238T>C (human) PMID:12514664|REF_RGD_ID:1579982 8997869 Nppa natriuretic peptide A gene DOID:6000 congestive heart failure ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11136700|PMID:16101196|PMID:1647690|PMID:8112904 8997869 Nppa natriuretic peptide A gene DOID:6000 congestive heart failure ISO RGD:730878 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart,plasma PMID:11421854|REF_RGD_ID:1580139 8997869 Nppa natriuretic peptide A gene DOID:6000 congestive heart failure ISO RGD:730878 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2143809|REF_RGD_ID:1580140 8997869 Nppa natriuretic peptide A gene DOID:6000 congestive heart failure severity ISO RGD:730878 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23566312|REF_RGD_ID:7247714 8997869 Nppa natriuretic peptide A gene DOID:6000 congestive heart failure treatment ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:23931972|REF_RGD_ID:7297049 8997869 Nppa natriuretic peptide A gene DOID:630 genetic disease ISO RGD:730878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8997869 Nppa natriuretic peptide A gene DOID:6432 pulmonary hypertension ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:2136863|REF_RGD_ID:7247720 8997869 Nppa natriuretic peptide A gene DOID:784 chronic kidney disease disease_progression ISO RGD:730878 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19052536|REF_RGD_ID:7247723 8997869 Nppa natriuretic peptide A gene DOID:8283 peritonitis ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:23422200|REF_RGD_ID:7247713 8997869 Nppa natriuretic peptide A gene DOID:8725 vascular dementia ISO RGD:730878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:33268848 8997869 Nppa natriuretic peptide A gene DOID:8947 diabetic retinopathy ISO RGD:730878 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:15273657|REF_RGD_ID:2313589 8997869 Nppa natriuretic peptide A gene DOID:9000064 Cardiac Arrhythmias ISO RGD:730878 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17460430|PMID:25741868|PMID:28492532 8997869 Nppa natriuretic peptide A gene DOID:9000641 Pain ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:13679232 8997869 Nppa natriuretic peptide A gene DOID:9000965 Neoplasm Metastasis ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18717826 8997869 Nppa natriuretic peptide A gene DOID:9001443 Hypercapnia ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 8997869 Nppa natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies ISO RGD:3193 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:blood PMID:10381153|REF_RGD_ID:2313592 8997869 Nppa natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma PMID:10404802|REF_RGD_ID:7247731 8997869 Nppa natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :2238T>C (human) PMID:15111511|REF_RGD_ID:2313590 8997869 Nppa natriuretic peptide A gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:9681733|REF_RGD_ID:2313593 8997869 Nppa natriuretic peptide A gene DOID:9002304 Prostatic Neoplasms ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18225537 8997869 Nppa natriuretic peptide A gene DOID:9002669 Hypoxia ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11311734 8997869 Nppa natriuretic peptide A gene DOID:9003919 Urination Disorders ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8318687 8997869 Nppa natriuretic peptide A gene DOID:9003936 Cardiomegaly ISO RGD:11003 D RGD:9068941 20221027 RGD mRNA, protein:increased expression:heart (mouse) PMID:26597775|REF_RGD_ID:11554891 8997869 Nppa natriuretic peptide A gene DOID:9003936 Cardiomegaly ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12224825|PMID:18056528|PMID:20886221|PMID:21242511|PMID:21297083|PMID:22083722 8997869 Nppa natriuretic peptide A gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:11003 D RGD:9068941 20230415 RGD PMID:24275554|REF_RGD_ID:11252017 8997869 Nppa natriuretic peptide A gene DOID:9003936 Cardiomegaly treatment ISO RGD:11003 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 8997869 Nppa natriuretic peptide A gene DOID:9003936 Cardiomegaly treatment ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:23905381|REF_RGD_ID:7297051 8997869 Nppa natriuretic peptide A gene DOID:9004283 Transplant Rejection treatment ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:23826817|REF_RGD_ID:7297054 8997869 Nppa natriuretic peptide A gene DOID:9004464 Skin Neoplasms ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18004088 8997869 Nppa natriuretic peptide A gene DOID:9004610 Acute Lung Injury ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:23422200|REF_RGD_ID:7247713 8997869 Nppa natriuretic peptide A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3193 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic;mRNA:increased expression:heart PMID:24013683|REF_RGD_ID:7297044 8997869 Nppa natriuretic peptide A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3193 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle PMID:16272201|REF_RGD_ID:1580154 8997869 Nppa natriuretic peptide A gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10755198|PMID:9455993 8997869 Nppa natriuretic peptide A gene DOID:9005172 Lung Neoplasms ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18717826 8997869 Nppa natriuretic peptide A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3193 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:15789000|REF_RGD_ID:1580773 8997869 Nppa natriuretic peptide A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3193 D RGD:9068941 20200609 RGD protein:increased expression:plasma, kidney, heart; PMID:17151304|REF_RGD_ID:7248602 8997869 Nppa natriuretic peptide A gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:19298916|REF_RGD_ID:7247719 8997869 Nppa natriuretic peptide A gene DOID:9006024 Hypotension ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2951327|PMID:2961279 8997869 Nppa natriuretic peptide A gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3193 D RGD:9068941 20200609 RGD PMID:2136863|REF_RGD_ID:7247720 8997869 Nppa natriuretic peptide A gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:730878 D RGD:9068941 20200609 RGD PMID:20471588|REF_RGD_ID:7247717 8997869 Nppa natriuretic peptide A gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:3193 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23497378|REF_RGD_ID:7297056 8997869 Nppa natriuretic peptide A gene DOID:9007096 Stroke susceptibility ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:missense:exon:rs5063(human) PMID:25452597|REF_RGD_ID:14696737 8997869 Nppa natriuretic peptide A gene DOID:9007096 Stroke susceptibility ISO RGD:730878 D RGD:9068941 20200609 RGD DNA:polymorphism:TC2238 PMID:15017020|REF_RGD_ID:1580137 8997869 Nppa natriuretic peptide A gene DOID:9007096 Stroke susceptibility ISO RGD:730878 D RGD:9068941 20210730 RGD DNA:SNP, missense mutation:intron 2, CDS:1837G>A, 664G>A (p.V7M) (human) PMID:10525492|REF_RGD_ID:149735577 8997869 Nppa natriuretic peptide A gene DOID:9007102 Myocardial Ischemia ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1830552 8997869 Nppa natriuretic peptide A gene DOID:9007174 Ventricular Remodeling ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 8997869 Nppa natriuretic peptide A gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:11003 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 8997869 Nppa natriuretic peptide A gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:730878 D RGD:7240710 20180130 OMIM 8997869 Nppa natriuretic peptide A gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:730878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:15017020|PMID:17460430|PMID:17576681|PMID:17984371|PMID:18614783|PMID:19646991|PMID:19702001|PMID:20064500|PMID:20543198|PMID:22400494|PMID:22575314|PMID:22818067|PMID:23275345|PMID:23529183|PMID:23838598|PMID:24033266|PMID:24041948|PMID:25401746|PMID:25410959|PMID:25467552|PMID:25741868|PMID:26200358|PMID:26383259|PMID:28492532|PMID:30847666|PMID:31034774|PMID:31983221|PMID:33268848|PMID:33552729|PMID:6225642|PMID:9536098 8997869 Nppa natriuretic peptide A gene DOID:9007639 Metabolic Side Effects of Drugs and Substances ISO RGD:3193 D RGD:9068941 20231116 RGD Associated with incense smoke exposure;mRNA:increased expression:heart (rat) PMID:25687613|REF_RGD_ID:401900684 8997869 Nppa natriuretic peptide A gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11584395 8997869 Nppa natriuretic peptide A gene DOID:9352 type 2 diabetes mellitus ISO RGD:11003 D RGD:9068941 20200609 RGD PMID:19675071|REF_RGD_ID:2313586 8997869 Nppa natriuretic peptide A gene DOID:9775 diastolic heart failure ISO RGD:730878 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 8997869 Nppa natriuretic peptide A gene DOID:9970 obesity ISO RGD:730878 D RGD:9068941 20200609 RGD associated with Heart Failure; PMID:23566312|REF_RGD_ID:7247714 8997884 Lrrc26 leucine rich repeat containing 26 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 8997884 Lrrc26 leucine rich repeat containing 26 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603823 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 8997884 Lrrc26 leucine rich repeat containing 26 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 8997884 Lrrc26 leucine rich repeat containing 26 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603823 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 8997884 Lrrc26 leucine rich repeat containing 26 gene DOID:0081097 Rafiq syndrome ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 8997884 Lrrc26 leucine rich repeat containing 26 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603823 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8997884 Lrrc26 leucine rich repeat containing 26 gene DOID:1826 epilepsy ISO RGD:1603823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 8997884 Lrrc26 leucine rich repeat containing 26 gene DOID:630 genetic disease ISO RGD:1603823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997884 Lrrc26 leucine rich repeat containing 26 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603823 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 8997890 Mdc1 mediator of DNA damage checkpoint 1 gene DOID:11372 megacolon ISO RGD:1348817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8997890 Mdc1 mediator of DNA damage checkpoint 1 gene DOID:3459 breast carcinoma ISO RGD:1348817 D RGD:9068941 20200609 RGD protein:decreased expression:breast (human) PMID:17546051|REF_RGD_ID:9589053 8997890 Mdc1 mediator of DNA damage checkpoint 1 gene DOID:3905 lung carcinoma ISO RGD:1348817 D RGD:9068941 20200609 RGD protein:decreased expression:bronchus, parenchyma (human) PMID:17546051|REF_RGD_ID:9589053 8997890 Mdc1 mediator of DNA damage checkpoint 1 gene DOID:4362 cervical cancer ISO RGD:1348817 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:uterine cervix (human) PMID:21853275|REF_RGD_ID:9589052 8997890 Mdc1 mediator of DNA damage checkpoint 1 gene DOID:5517 stomach carcinoma severity ISO RGD:1348817 D RGD:9068941 20200609 RGD protein:decreased expression:stomach (human) PMID:23569343|REF_RGD_ID:9589059 8997890 Mdc1 mediator of DNA damage checkpoint 1 gene DOID:630 genetic disease ISO RGD:1348817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997905 Cdc123 cell division cycle 123 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:733862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 8997905 Cdc123 cell division cycle 123 gene DOID:630 genetic disease ISO RGD:733862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997923 Optc opticin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1312631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 8997923 Optc opticin gene DOID:1540 parathyroid carcinoma ISO RGD:1312631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8997923 Optc opticin gene DOID:630 genetic disease ISO RGD:1312631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997923 Optc opticin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1312631 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 8997923 Optc opticin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8997938 Erich5 glutamate rich 5 gene DOID:630 genetic disease ISO RGD:1606129 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997946 Cyth2 cytohesin 2 gene DOID:630 genetic disease ISO RGD:737071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997961 Zscan9 zinc finger and SCAN domain containing 9 gene DOID:11372 megacolon ISO RGD:1347085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 8997961 Zscan9 zinc finger and SCAN domain containing 9 gene DOID:630 genetic disease ISO RGD:1347085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8997992 Yju2 YJU2 splicing factor homolog gene DOID:13938 amenorrhea ISO RGD:1603997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 8997992 Yju2 YJU2 splicing factor homolog gene DOID:630 genetic disease ISO RGD:1603997 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998028 Tub TUB bipartite transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:1343505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 8998028 Tub TUB bipartite transcription factor gene DOID:630 genetic disease ISO RGD:1343505 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8998028 Tub TUB bipartite transcription factor gene DOID:8501 fundus dystrophy ISO RGD:1343505 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:36498982|PMID:9536098 8998028 Tub TUB bipartite transcription factor gene DOID:9009014 Retinal Dystrophy and Obesity ISO RGD:1343505 D RGD:7240710 20180130 OMIM 8998028 Tub TUB bipartite transcription factor gene DOID:9009014 Retinal Dystrophy and Obesity ISO RGD:1343505 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy and obesity | ClinVar Annotator: match by term: TUB-related condition PMID:16199547|PMID:17576681|PMID:24375934|PMID:25741868|PMID:28492532|PMID:31785789|PMID:36498982|PMID:9536098 8998028 Tub TUB bipartite transcription factor gene DOID:9970 obesity ISO RGD:732108 D RGD:9068941 20220825 MouseDO OMIM:601665 8998028 Tub TUB bipartite transcription factor gene DOID:9970 obesity no_association ISO RGD:1343505 D RGD:9068941 20200609 RGD PMID:8772727|REF_RGD_ID:1625564 8998028 Tub TUB bipartite transcription factor gene DOID:9970 obesity susceptibility ISO RGD:732108 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:8612280|REF_RGD_ID:1625565 8998058 Cdh18 cadherin 18 gene DOID:0111275 speech-language disorder-1 ISO RGD:1313454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood apraxia of speech PMID:27120335 8998058 Cdh18 cadherin 18 gene DOID:630 genetic disease ISO RGD:1313454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998058 Cdh18 cadherin 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8998077 Myoz1 myozenin 1 gene DOID:0060224 atrial fibrillation ISO RGD:1351397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 8998077 Myoz1 myozenin 1 gene DOID:630 genetic disease ISO RGD:1351397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998088 Nav3 neuron navigator 3 gene DOID:12849 autistic disorder ISO RGD:1314915 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 8998088 Nav3 neuron navigator 3 gene DOID:2559 opiate dependence ISO RGD:1314915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 8998088 Nav3 neuron navigator 3 gene DOID:2559 opiate dependence susceptibility ISO RGD:1314915 D RGD:9068941 20231102 RGD DNA:SNP:: (rs770124) (human) PMID:18438686|REF_RGD_ID:401851917 8998088 Nav3 neuron navigator 3 gene DOID:4450 renal cell carcinoma ISO RGD:1314915 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 8998088 Nav3 neuron navigator 3 gene DOID:630 genetic disease ISO RGD:1314915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998088 Nav3 neuron navigator 3 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1314915 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 8998142 Ptx3 pentraxin 3 gene DOID:0050073 invasive aspergillosis ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:bronchoalveolar lavage fluid (human) PMID:28487045|REF_RGD_ID:38508892 8998142 Ptx3 pentraxin 3 gene DOID:0050073 invasive aspergillosis severity ISO RGD:1343528 D RGD:9068941 20200820 RGD DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 PMID:30275011|REF_RGD_ID:38501097 8998142 Ptx3 pentraxin 3 gene DOID:0050153 pulmonary aspergilloma ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:bronchoalveolar lavage fluid, plasma (human) PMID:29964232|REF_RGD_ID:38508894 8998142 Ptx3 pentraxin 3 gene DOID:1003 pelvic inflammatory disease ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:21679133|REF_RGD_ID:38508897 8998142 Ptx3 pentraxin 3 gene DOID:14115 toxic shock syndrome ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:30687307|REF_RGD_ID:38508896 8998142 Ptx3 pentraxin 3 gene DOID:1485 cystic fibrosis susceptibility ISO RGD:1343528 D RGD:9068941 20200716 RGD DNA:SNP:exon:rs35948036(human) PMID:20927127|REF_RGD_ID:35673347 8998142 Ptx3 pentraxin 3 gene DOID:1883 hepatitis C severity ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:26400151|REF_RGD_ID:11554449 8998142 Ptx3 pentraxin 3 gene DOID:37 skin disease ISO RGD:1343528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8998142 Ptx3 pentraxin 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1343528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22210019 8998142 Ptx3 pentraxin 3 gene DOID:630 genetic disease ISO RGD:1343528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998142 Ptx3 pentraxin 3 gene DOID:9000522 Invasive Candidiasis severity ISO RGD:1343528 D RGD:9068941 20200820 RGD associated with hematologic cancer;DNA:SNP:intron:rs1840680 PMID:30275011|REF_RGD_ID:38501097 8998142 Ptx3 pentraxin 3 gene DOID:9000992 necrotizing soft tissue infection severity ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:decreased expression:plasma (human) PMID:26880104|REF_RGD_ID:38508899 8998142 Ptx3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:bronchoalveolar lavage fluid, plasma (human) PMID:29964232|REF_RGD_ID:38508894 8998142 Ptx3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:increased expression:plasma PMID:29020397|REF_RGD_ID:38501098 8998142 Ptx3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis no_association ISO RGD:1343528 D RGD:9068941 20200820 RGD DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527 PMID:29020397|REF_RGD_ID:38501098 8998142 Ptx3 pentraxin 3 gene DOID:9003219 Invasive Pulmonary Aspergillosis susceptibility ISO RGD:1343528 D RGD:9068941 20200820 RGD DNA:SNP:intron:rs1840680 (human) PMID:29020397|REF_RGD_ID:38501098 8998142 Ptx3 pentraxin 3 gene DOID:9006058 Invasive Fungal Infections severity ISO RGD:1343528 D RGD:9068941 20200820 RGD DNA:SNPs:intron:rs2305619, rs1840680 (human) PMID:30275011|REF_RGD_ID:38501097 8998142 Ptx3 pentraxin 3 gene DOID:9007417 Pseudomonas Infections susceptibility ISO RGD:1343528 D RGD:9068941 20200716 RGD associated with cystic fibrosis; DNA:SNPs, haplotypes:cds:rs35948036,rs2305619,rs1840680,rs3816527(human) PMID:20927127|REF_RGD_ID:35673347 8998142 Ptx3 pentraxin 3 gene DOID:9007964 Arsenic Poisoning ISO RGD:1343528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8998142 Ptx3 pentraxin 3 gene DOID:9008212 Diabetic Foot ISO RGD:1343528 D RGD:9068941 20200820 RGD protein:decreased expression:plasma (human) PMID:30767386|REF_RGD_ID:38501100 8998150 Zc3h7b zinc finger CCCH-type containing 7B gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1601882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 8998150 Zc3h7b zinc finger CCCH-type containing 7B gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1601882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 8998150 Zc3h7b zinc finger CCCH-type containing 7B gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1601882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 8998150 Zc3h7b zinc finger CCCH-type containing 7B gene DOID:630 genetic disease ISO RGD:1601882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998179 Klf15 KLF transcription factor 15 gene DOID:12932 endomyocardial fibrosis ISO RGD:737261 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34310909 8998179 Klf15 KLF transcription factor 15 gene DOID:3627 aortic aneurysm ISO RGD:737262 D RGD:9068941 20220825 MouseDO 8998179 Klf15 KLF transcription factor 15 gene DOID:630 genetic disease ISO RGD:737261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998179 Klf15 KLF transcription factor 15 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8998179 Klf15 KLF transcription factor 15 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:737261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 8998179 Klf15 KLF transcription factor 15 gene DOID:9270 alkaptonuria ISO RGD:737261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 8998189 Cdh11 cadherin 11 gene DOID:0080395 orofacial cleft 1 ISO RGD:1351773 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Orofacial cleft 1 PMID:25741868 8998189 Cdh11 cadherin 11 gene DOID:0080631 Elsahy-Waters syndrome ISO RGD:1351773 D RGD:7240710 20190315 OMIM 8998189 Cdh11 cadherin 11 gene DOID:0080631 Elsahy-Waters syndrome ISO RGD:1351773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elsahy-Waters syndrome PMID:25741868|PMID:27431290|PMID:29271567 8998189 Cdh11 cadherin 11 gene DOID:0081074 Teebi hypertelorism syndrome 2 ISO RGD:1351773 D RGD:7240710 20220413 OMIM 8998189 Cdh11 cadherin 11 gene DOID:0081074 Teebi hypertelorism syndrome 2 ISO RGD:1351773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 PMID:33811546 8998189 Cdh11 cadherin 11 gene DOID:13501 Moebius syndrome ISO RGD:1351773 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 8998189 Cdh11 cadherin 11 gene DOID:630 genetic disease ISO RGD:1351773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8998210 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:1540 parathyroid carcinoma ISO RGD:1313432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8998210 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:630 genetic disease ISO RGD:1313432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998210 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1305414 D RGD:9068941 20200609 RGD protein:decreased expression:liver, cytosolic proteasome complex PMID:19609968|REF_RGD_ID:9480236 8998210 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:9001390 Testis Reperfusion Injury ISO RGD:1305414 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:24189580|REF_RGD_ID:9588240 8998210 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1305414 D RGD:9068941 20200609 RGD PMID:23500140|REF_RGD_ID:9588239 8998210 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1313432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 8998210 Uchl5 ubiquitin C-terminal hydrolase L5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8998229 CUNH9orf85 chromosome unknown C9orf85 homolog gene DOID:630 genetic disease ISO RGD:1605873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998237 Znf706 zinc finger protein 706 gene DOID:0111590 Cohen syndrome ISO RGD:1602889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 8998264 Rhbdl1 rhomboid like 1 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1347230 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 PMID:25741868 8998264 Rhbdl1 rhomboid like 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1347230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 8998264 Rhbdl1 rhomboid like 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1347230 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 8998264 Rhbdl1 rhomboid like 1 gene DOID:1826 epilepsy ISO RGD:1347230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:28492532 8998264 Rhbdl1 rhomboid like 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1347230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 8998286 Lamtor3 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 gene DOID:630 genetic disease ISO RGD:1316146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998297 Hdhd3 haloacid dehalogenase like hydrolase domain containing 3 gene DOID:630 genetic disease ISO RGD:1351910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998318 Lysmd1 LysM domain containing 1 gene DOID:0080422 Dravet syndrome ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 8998318 Lysmd1 LysM domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 8998318 Lysmd1 LysM domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 8998318 Lysmd1 LysM domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 8998318 Lysmd1 LysM domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8998318 Lysmd1 LysM domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 8998318 Lysmd1 LysM domain containing 1 gene DOID:630 genetic disease ISO RGD:1603473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998318 Lysmd1 LysM domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8998336 Gpr45 G protein-coupled receptor 45 gene DOID:630 genetic disease ISO RGD:1314767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8998341 Camk2n2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:732268 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8998341 Camk2n2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:732268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 8998341 Camk2n2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:0111546 Currarino syndrome ISO RGD:732268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 8998341 Camk2n2 calcium/calmodulin dependent protein kinase II inhibitor 2 gene DOID:630 genetic disease ISO RGD:732268 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998347 Grk3 G protein-coupled receptor kinase 3 gene DOID:10763 hypertension ISO RGD:2063 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, kidney (rat) PMID:26248277|REF_RGD_ID:11535540 8998347 Grk3 G protein-coupled receptor kinase 3 gene DOID:14330 Parkinson's disease ISO RGD:2063 D RGD:9068941 20200609 RGD protein:decreased expression:caudate putamen (rat) PMID:17996024|REF_RGD_ID:5685370 8998347 Grk3 G protein-coupled receptor kinase 3 gene DOID:1459 hypothyroidism ISO RGD:2063 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:19728039|REF_RGD_ID:5685027 8998347 Grk3 G protein-coupled receptor kinase 3 gene DOID:3312 bipolar disorder ISO RGD:730840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12808434 8998347 Grk3 G protein-coupled receptor kinase 3 gene DOID:3312 bipolar disorder ISO RGD:730840 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:frontal cortex (human) PMID:19400979|REF_RGD_ID:5685029 8998347 Grk3 G protein-coupled receptor kinase 3 gene DOID:6000 congestive heart failure severity ISO RGD:730840 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle (human) PMID:22685168|REF_RGD_ID:13506835 8998347 Grk3 G protein-coupled receptor kinase 3 gene DOID:630 genetic disease ISO RGD:730840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998347 Grk3 G protein-coupled receptor kinase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2063 D RGD:9068941 20200609 RGD PMID:23196710|REF_RGD_ID:13792785 8998347 Grk3 G protein-coupled receptor kinase 3 gene DOID:9003936 Cardiomegaly ISO RGD:2063 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (rat) PMID:20677219|REF_RGD_ID:5685025 8998347 Grk3 G protein-coupled receptor kinase 3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730840 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex (human) PMID:23727505|REF_RGD_ID:13792719 8998376 Dnah9 dynein axonemal heavy chain 9 gene DOID:0111853 primary ciliary dyskinesia 40 ISO RGD:1313302 D RGD:7240710 20190315 OMIM 8998376 Dnah9 dynein axonemal heavy chain 9 gene DOID:0111853 primary ciliary dyskinesia 40 ISO RGD:1313302 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40 | ClinVar Annotator: match by term: DNAH9-related condition PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30471717|PMID:30471718|PMID:9536098 8998376 Dnah9 dynein axonemal heavy chain 9 gene DOID:10283 prostate cancer ISO RGD:1313302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8998376 Dnah9 dynein axonemal heavy chain 9 gene DOID:10908 hydrocephalus ISO RGD:1313302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus PMID:25741868|PMID:28492532|PMID:30471718 8998376 Dnah9 dynein axonemal heavy chain 9 gene DOID:1909 melanoma ISO RGD:1313302 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 8998376 Dnah9 dynein axonemal heavy chain 9 gene DOID:5419 schizophrenia ISO RGD:1313302 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 8998376 Dnah9 dynein axonemal heavy chain 9 gene DOID:630 genetic disease ISO RGD:1313302 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8998376 Dnah9 dynein axonemal heavy chain 9 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1313302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:25741868|PMID:28492532|PMID:30471718 8998376 Dnah9 dynein axonemal heavy chain 9 gene DOID:9008386 Hydrops Fetalis ISO RGD:1313302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:28492532|PMID:30471718|PMID:33027564 8998376 Dnah9 dynein axonemal heavy chain 9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313302 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532|PMID:30471718 8998460 Zbtb1 zinc finger and BTB domain containing 1 gene DOID:630 genetic disease ISO RGD:1343689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998473 Atxn2 ataxin 2 gene DOID:0050955 spinocerebellar ataxia type 2 ISO RGD:1347160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 PMID:25741868 8998473 Atxn2 ataxin 2 gene DOID:0050955 spinocerebellar ataxia type 2 susceptibility ISO RGD:1347160 D RGD:7240710 20240308 OMIM 8998473 Atxn2 ataxin 2 gene DOID:0060470 salt and pepper syndrome ISO RGD:1347160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency PMID:25741868 8998473 Atxn2 ataxin 2 gene DOID:0060892 late onset Parkinson's disease ISO RGD:1347160 D RGD:9068941 20240309 CTD CTD Direct Evidence: marker/mechanism 8998473 Atxn2 ataxin 2 gene DOID:0060892 late onset Parkinson's disease susceptibility ISO RGD:1347160 D RGD:7240710 20240308 OMIM 8998473 Atxn2 ataxin 2 gene DOID:1067 open-angle glaucoma ISO RGD:1347160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26752265 8998473 Atxn2 ataxin 2 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 8998473 Atxn2 ataxin 2 gene DOID:630 genetic disease ISO RGD:1347160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998473 Atxn2 ataxin 2 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1347160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19224595|PMID:20065139 8998512 Dennd1b DENN domain containing 1B gene DOID:0080600 COVID-19 ISO RGD:1318210 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8998512 Dennd1b DENN domain containing 1B gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1318210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 8998512 Dennd1b DENN domain containing 1B gene DOID:12236 primary biliary cholangitis ISO RGD:1318210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 8998512 Dennd1b DENN domain containing 1B gene DOID:1540 parathyroid carcinoma ISO RGD:1318210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8998512 Dennd1b DENN domain containing 1B gene DOID:630 genetic disease ISO RGD:1318210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998512 Dennd1b DENN domain containing 1B gene DOID:8778 Crohn's disease ISO RGD:1318210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 8998512 Dennd1b DENN domain containing 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8998538 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:0070421 neurodevelopmental disorder with spasticity and poor growth ISO RGD:1604819 D RGD:7240710 20190315 OMIM 8998538 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:0070421 neurodevelopmental disorder with spasticity and poor growth ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity and poor growth PMID:25741868|PMID:27431290|PMID:29868776 8998538 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 8998538 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8998538 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:630 genetic disease ISO RGD:1604819 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998538 Ufc1 ubiquitin-fold modifier conjugating enzyme 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8998563 Negr1 neuronal growth regulator 1 gene DOID:1059 intellectual disability ISO RGD:1348692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8998563 Negr1 neuronal growth regulator 1 gene DOID:5434 scrapie ISO RGD:1332157 D RGD:9068941 20201204 RGD PMID:29087046|REF_RGD_ID:40886276 8998563 Negr1 neuronal growth regulator 1 gene DOID:630 genetic disease ISO RGD:1348692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998563 Negr1 neuronal growth regulator 1 gene DOID:9970 obesity ISO RGD:1348692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19079261 8998574 Lrguk leucine rich repeats and guanylate kinase domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8998574 Lrguk leucine rich repeats and guanylate kinase domain containing gene DOID:630 genetic disease ISO RGD:1603904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998604 Retsat retinol saturase gene DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 ISO RGD:731874 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19139408 8998604 Retsat retinol saturase gene DOID:630 genetic disease ISO RGD:731874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998624 Eef1d eukaryotic translation elongation factor 1 delta gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1323465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8998624 Eef1d eukaryotic translation elongation factor 1 delta gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1323465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8998624 Eef1d eukaryotic translation elongation factor 1 delta gene DOID:1059 intellectual disability ISO RGD:1323465 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:30787422 8998624 Eef1d eukaryotic translation elongation factor 1 delta gene DOID:4621 holoprosencephaly ISO RGD:1323465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8998624 Eef1d eukaryotic translation elongation factor 1 delta gene DOID:630 genetic disease ISO RGD:1323465 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28097321|PMID:30787422 8998624 Eef1d eukaryotic translation elongation factor 1 delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323465 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28097321|PMID:30787422 8998660 Map7d2 MAP7 domain containing 2 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8998660 Map7d2 MAP7 domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8998660 Map7d2 MAP7 domain containing 2 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8998660 Map7d2 MAP7 domain containing 2 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8998660 Map7d2 MAP7 domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1605254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8998660 Map7d2 MAP7 domain containing 2 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1605254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 8998660 Map7d2 MAP7 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998660 Map7d2 MAP7 domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8998695 Slc38a10 solute carrier family 38 member 10 gene DOID:630 genetic disease ISO RGD:1601937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998724 Raver2 ribonucleoprotein, PTB binding 2 gene DOID:1059 intellectual disability ISO RGD:1602482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 8998724 Raver2 ribonucleoprotein, PTB binding 2 gene DOID:630 genetic disease ISO RGD:1602482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998755 Slc22a11 solute carrier family 22 member 11 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353940 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 8998755 Slc22a11 solute carrier family 22 member 11 gene DOID:1059 intellectual disability ISO RGD:1353940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8998755 Slc22a11 solute carrier family 22 member 11 gene DOID:3070 high grade glioma ISO RGD:1353940 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8998755 Slc22a11 solute carrier family 22 member 11 gene DOID:630 genetic disease ISO RGD:1353940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998774 Thy1 Thy-1 cell surface antigen gene DOID:0060017 CD3epsilon deficiency ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 8998774 Thy1 Thy-1 cell surface antigen gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 8998774 Thy1 Thy-1 cell surface antigen gene DOID:0080690 RASopathy ISO RGD:735861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 8998774 Thy1 Thy-1 cell surface antigen gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 8998774 Thy1 Thy-1 cell surface antigen gene DOID:0111971 immunodeficiency 18 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 8998774 Thy1 Thy-1 cell surface antigen gene DOID:0111972 immunodeficiency 19 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 8998774 Thy1 Thy-1 cell surface antigen gene DOID:0111973 immunodeficiency 17 ISO RGD:735861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 8998774 Thy1 Thy-1 cell surface antigen gene DOID:12510 retinal ischemia treatment ISO RGD:3860 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 8998774 Thy1 Thy-1 cell surface antigen gene DOID:5419 schizophrenia ISO RGD:735861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8998774 Thy1 Thy-1 cell surface antigen gene DOID:5679 retinal disease ISO RGD:3860 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18836575|REF_RGD_ID:5490154 8998774 Thy1 Thy-1 cell surface antigen gene DOID:5679 retinal disease ISO RGD:735861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 8998774 Thy1 Thy-1 cell surface antigen gene DOID:630 genetic disease ISO RGD:735861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998774 Thy1 Thy-1 cell surface antigen gene DOID:684 hepatocellular carcinoma ISO RGD:735861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 8998774 Thy1 Thy-1 cell surface antigen gene DOID:9004009 Reperfusion Injury ISO RGD:735861 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23075401 8998774 Thy1 Thy-1 cell surface antigen gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8998774 Thy1 Thy-1 cell surface antigen gene DOID:9007661 Dwarfism ISO RGD:735861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 8998783 Mtbp MDM2 binding protein gene DOID:10283 prostate cancer ISO RGD:1354048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 8998783 Mtbp MDM2 binding protein gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1354048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 8998783 Mtbp MDM2 binding protein gene DOID:630 genetic disease ISO RGD:1354048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998783 Mtbp MDM2 binding protein gene DOID:684 hepatocellular carcinoma ISO RGD:1354048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29765550 8998810 Meis3 Meis homeobox 3 gene DOID:630 genetic disease ISO RGD:1318359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998837 Cltb clathrin light chain B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8998837 Cltb clathrin light chain B gene DOID:14748 Sotos syndrome ISO RGD:733395 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8998837 Cltb clathrin light chain B gene DOID:630 genetic disease ISO RGD:733395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998837 Cltb clathrin light chain B gene DOID:9005172 Lung Neoplasms ISO RGD:733395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8998861 Faf2 Fas associated factor family member 2 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1604379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8998861 Faf2 Fas associated factor family member 2 gene DOID:14748 Sotos syndrome ISO RGD:1604379 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 8998861 Faf2 Fas associated factor family member 2 gene DOID:630 genetic disease ISO RGD:1604379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998861 Faf2 Fas associated factor family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604379 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 8998861 Faf2 Fas associated factor family member 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 8998861 Faf2 Fas associated factor family member 2 gene DOID:9008063 Chromosome 5, Trisomy 5q ISO RGD:1604379 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 5q35 microduplication syndrome PMID:31690835 8998886 Saal1 serum amyloid A like 1 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1606985 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 8998886 Saal1 serum amyloid A like 1 gene DOID:1059 intellectual disability ISO RGD:1606985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8998886 Saal1 serum amyloid A like 1 gene DOID:630 genetic disease ISO RGD:1606985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998908 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1349945 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 8998908 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:0110409 retinitis pigmentosa 46 ISO RGD:1349945 D RGD:7240710 20180130 OMIM 8998908 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:0110409 retinitis pigmentosa 46 ISO RGD:1349945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 46 PMID:18806796|PMID:25741868|PMID:28492532|PMID:31736247 8998908 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:10584 retinitis pigmentosa ISO RGD:1349945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 8998908 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1349945 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 8998908 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:630 genetic disease ISO RGD:1349945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8998908 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:9000217 Stomach Neoplasms ISO RGD:1349945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8998908 Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta gene DOID:9000918 Disease Progression ISO RGD:1349945 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 8998923 Efnb2 ephrin B2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1319867 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 8998923 Efnb2 ephrin B2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8998923 Efnb2 ephrin B2 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:1319867 D RGD:9068941 20220811 RGD human cells in mouse model PMID:26494468|REF_RGD_ID:153300950 8998923 Efnb2 ephrin B2 gene DOID:10534 stomach cancer ISO RGD:1319867 D RGD:9068941 20220811 RGD mRNA:increased expression:stomach (human) PMID:12136247|REF_RGD_ID:153323289 8998923 Efnb2 ephrin B2 gene DOID:1520 colon carcinoma ameliorates ISO RGD:1319867 D RGD:9068941 20220811 RGD human cells in mouse model PMID:15083195|REF_RGD_ID:153305907 8998923 Efnb2 ephrin B2 gene DOID:3748 esophagus squamous cell carcinoma ameliorates ISO RGD:1319867 D RGD:9068941 20220811 RGD human cells in mouse model PMID:29190834|REF_RGD_ID:153300948 8998923 Efnb2 ephrin B2 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1319867 D RGD:9068941 20220811 RGD mRNA,protein:increased expression:esophagus squamous epithelium (human) PMID:31885720|REF_RGD_ID:153300949 8998923 Efnb2 ephrin B2 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1319867 D RGD:9068941 20220811 RGD mRNA:increased expression:esophagus squamous epithelium (human) PMID:17611172|REF_RGD_ID:153300947 8998923 Efnb2 ephrin B2 gene DOID:630 genetic disease ISO RGD:1319867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998923 Efnb2 ephrin B2 gene DOID:799 varicose veins ISO RGD:1319867 D RGD:9068941 20221110 RGD mRNA,protein:increased expression:vein: PMID:26808710|REF_RGD_ID:11529441 8998923 Efnb2 ephrin B2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309497 D RGD:9068941 20210625 RGD mRNA,protein:increased expression:fibroblast, astrocyte PMID:33794069|REF_RGD_ID:127285659 8998923 Efnb2 ephrin B2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1309497 D RGD:9068941 20210702 RGD protein:increased phosporylation:spinal cord PMID:12944508|REF_RGD_ID:127285804 8998923 Efnb2 ephrin B2 gene DOID:9000096 Lung Agenesis ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30106123 8998923 Efnb2 ephrin B2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1319867 D RGD:9068941 20220811 RGD associated with cholangiocarcinoma;protein:increased expression:biliary ductule (human) PMID:25012246|REF_RGD_ID:153305948 8998923 Efnb2 ephrin B2 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1319867 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 8998923 Efnb2 ephrin B2 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:1309497 D RGD:9068941 20221201 RGD mRNA:increased expression:retina PMID:26670826|REF_RGD_ID:155663663 8998923 Efnb2 ephrin B2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1319867 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 8998923 Efnb2 ephrin B2 gene DOID:9004009 Reperfusion Injury ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 8998923 Efnb2 ephrin B2 gene DOID:9005172 Lung Neoplasms ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 8998923 Efnb2 ephrin B2 gene DOID:9007188 Liver Neoplasms ISO RGD:1319867 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 8998923 Efnb2 ephrin B2 gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1319867 D RGD:9068941 20220811 RGD protein:increased expression:nasopharynx (human) PMID:23631129|REF_RGD_ID:153305949 8998923 Efnb2 ephrin B2 gene DOID:9778 irritable bowel syndrome ISO RGD:1309497 D RGD:9068941 20210604 RGD associated with trichuriasis;protein:increased expression:colonic muscularis: PMID:31601124|REF_RGD_ID:127229906 8998931 Cep162 centrosomal protein 162 gene DOID:630 genetic disease ISO RGD:1316522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8998965 Add3 adducin 3 gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:735411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 8998965 Add3 adducin 3 gene DOID:0081361 spastic quadriplegic cerebral palsy 3 ISO RGD:735411 D RGD:7240710 20230607 OMIM 8998965 Add3 adducin 3 gene DOID:0081361 spastic quadriplegic cerebral palsy 3 ISO RGD:735411 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 PMID:23836506|PMID:25741868|PMID:28492532|PMID:29768408 8998965 Add3 adducin 3 gene DOID:10763 hypertension ISO RGD:2043 D RGD:9068941 20200609 RGD PMID:12364392|REF_RGD_ID:704369 8998965 Add3 adducin 3 gene DOID:10907 microcephaly ISO RGD:735411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 8998965 Add3 adducin 3 gene DOID:1969 cerebral palsy ISO RGD:735411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:23836506|PMID:25741868 8998965 Add3 adducin 3 gene DOID:2316 brain ischemia ISO RGD:735411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 8998965 Add3 adducin 3 gene DOID:3312 bipolar disorder ISO RGD:735411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 8998965 Add3 adducin 3 gene DOID:3602 toxic encephalopathy ISO RGD:735411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 8998965 Add3 adducin 3 gene DOID:576 proteinuria ISO RGD:2043 D RGD:9068941 20210917 RGD PMID:32029431|REF_RGD_ID:150340736 8998965 Add3 adducin 3 gene DOID:630 genetic disease ISO RGD:735411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8998965 Add3 adducin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 8998965 Add3 adducin 3 gene DOID:9003311 Urinary Calculi ISO RGD:2043 D RGD:9068941 20200609 RGD PMID:15329129|REF_RGD_ID:2317717 8999009 Leng1 leukocyte receptor cluster member 1 gene DOID:630 genetic disease ISO RGD:1317415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999009 Leng1 leukocyte receptor cluster member 1 gene DOID:9008787 Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies ISO RGD:1317415 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies PMID:29758562 8999017 Pou3f4 POU class 3 homeobox 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8999017 Pou3f4 POU class 3 homeobox 4 gene DOID:0111737 X-linked deafness 2 ISO RGD:732459 D RGD:7240710 20180130 OMIM 8999017 Pou3f4 POU class 3 homeobox 4 gene DOID:0111737 X-linked deafness 2 ISO RGD:732459 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:1783396|PMID:19671658|PMID:19930154|PMID:23076972|PMID:23606368|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29287890|PMID:30176854|PMID:31690835|PMID:31786483|PMID:35189936|PMID:35802133|PMID:36633841|PMID:6662621|PMID:7581392|PMID:7839145|PMID:9298820 8999017 Pou3f4 POU class 3 homeobox 4 gene DOID:12849 autistic disorder ISO RGD:732459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8999017 Pou3f4 POU class 3 homeobox 4 gene DOID:3070 high grade glioma ISO RGD:732459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 8999017 Pou3f4 POU class 3 homeobox 4 gene DOID:630 genetic disease ISO RGD:732459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 8999017 Pou3f4 POU class 3 homeobox 4 gene DOID:9008681 Deafness ISO RGD:732459 D RGD:9068941 20200609 RGD PMID:7839145|PMID:9298820|REF_RGD_ID:1599155|REF_RGD_ID:1599156 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:0060476 Perlman syndrome ISO RGD:731795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:0080546 non-alcoholic fatty liver ISO RGD:731795 D RGD:9068941 20231111 RGD associated with morbid obesity;mRNA:decreased expression:liver PMID:33081272|REF_RGD_ID:401900305 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:731795 D RGD:9068941 20231111 RGD associated with morbid obesity;mRNA:decreased expression:liver PMID:33081272|REF_RGD_ID:401900305 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:0110991 Joubert syndrome 22 ISO RGD:731795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:10763 hypertension ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8627522 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:29127258 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:3454 brain infarction ISO RGD:61801 D RGD:9068941 20230527 RGD mRNA:increased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:4079 heart valve disease ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10617681|PMID:11104741|PMID:16141947|PMID:19505264 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:4079 heart valve disease treatment ISO RGD:61801 D RGD:9068941 20200609 RGD PMID:19346455|REF_RGD_ID:9698458 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:6000 congestive heart failure ISO RGD:61801 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle cardiac muscle (rat) PMID:17936780|REF_RGD_ID:9698457 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:6000 congestive heart failure ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19023134 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:630 genetic disease ISO RGD:731795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:6432 pulmonary hypertension ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14659797 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61801 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:16936262|REF_RGD_ID:9743846 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:9003936 Cardiomegaly ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302781|PMID:19023134|PMID:20374255 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16863450 8999023 Htr2b 5-hydroxytryptamine receptor 2B gene DOID:9452 steatotic liver disease ISO RGD:731795 D RGD:9068941 20231111 RGD associated with morbid obesity;mRNA:decreased expression:liver PMID:33081272|REF_RGD_ID:401900305 8999041 Slc45a1 solute carrier family 45 member 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:731828 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8999041 Slc45a1 solute carrier family 45 member 1 gene DOID:1826 epilepsy ISO RGD:731828 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 8999041 Slc45a1 solute carrier family 45 member 1 gene DOID:630 genetic disease ISO RGD:731828 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 8999041 Slc45a1 solute carrier family 45 member 1 gene DOID:9003344 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES ISO RGD:731828 D RGD:7240710 20190315 OMIM 8999041 Slc45a1 solute carrier family 45 member 1 gene DOID:9003344 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES ISO RGD:731828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with neuropsychiatric features PMID:25741868|PMID:28434495 8999041 Slc45a1 solute carrier family 45 member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8999055 Dpysl4 dihydropyrimidinase like 4 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:737533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 8999055 Dpysl4 dihydropyrimidinase like 4 gene DOID:630 genetic disease ISO RGD:737533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999086 Il1b interleukin 1 beta gene DOID:0050127 sinusitis ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Hypersensitivity PMID:16358839|REF_RGD_ID:4143214 8999086 Il1b interleukin 1 beta gene DOID:0050700 cardiomyopathy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8999086 Il1b interleukin 1 beta gene DOID:0050848 obstructive sleep apnea ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:19342292|REF_RGD_ID:4142845 8999086 Il1b interleukin 1 beta gene DOID:0050848 obstructive sleep apnea ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20040038|REF_RGD_ID:4142829 8999086 Il1b interleukin 1 beta gene DOID:0050851 glomerulosclerosis ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19948880|REF_RGD_ID:7175503 8999086 Il1b interleukin 1 beta gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:2891 D RGD:9068941 20220715 RGD associated with social isolation;protein:increased expression:tongue (rat) PMID:33411841|REF_RGD_ID:152998999 8999086 Il1b interleukin 1 beta gene DOID:0050908 myelodysplastic syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow PMID:10697556|REF_RGD_ID:10450881 8999086 Il1b interleukin 1 beta gene DOID:0060180 colitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22969190|REF_RGD_ID:7204699 8999086 Il1b interleukin 1 beta gene DOID:0060180 colitis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23810507|PMID:24548422 8999086 Il1b interleukin 1 beta gene DOID:0060496 respiratory allergy ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:12663678|REF_RGD_ID:4143222 8999086 Il1b interleukin 1 beta gene DOID:0080000 muscular disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9184656 8999086 Il1b interleukin 1 beta gene DOID:0080158 herpes simplex virus keratitis ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:10624423|REF_RGD_ID:7401196 8999086 Il1b interleukin 1 beta gene DOID:0080162 lupus nephritis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:21641991|REF_RGD_ID:7175315 8999086 Il1b interleukin 1 beta gene DOID:0080162 lupus nephritis ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:20410215|REF_RGD_ID:7175344 8999086 Il1b interleukin 1 beta gene DOID:0080178 mucositis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22984629|REF_RGD_ID:7204497 8999086 Il1b interleukin 1 beta gene DOID:0080178 mucositis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20844880 8999086 Il1b interleukin 1 beta gene DOID:0080178 mucositis treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:30987265|REF_RGD_ID:14975283 8999086 Il1b interleukin 1 beta gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs:CDS:rs1143634 (human) PMID:27730688|REF_RGD_ID:14975293 8999086 Il1b interleukin 1 beta gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:730981 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32613381 8999086 Il1b interleukin 1 beta gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs:CDS:rs16944 (human) PMID:27730688|REF_RGD_ID:14975293 8999086 Il1b interleukin 1 beta gene DOID:0080519 PAPA syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 8999086 Il1b interleukin 1 beta gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ameliorates ISO RGD:10790 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 8999086 Il1b interleukin 1 beta gene DOID:0080600 COVID-19 ISO RGD:730981 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8999086 Il1b interleukin 1 beta gene DOID:0080600 COVID-19 ISO RGD:730981 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 8999086 Il1b interleukin 1 beta gene DOID:0080600 COVID-19 ISO RGD:730981 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32171193 8999086 Il1b interleukin 1 beta gene DOID:0080600 COVID-19 severity ISO RGD:730981 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 8999086 Il1b interleukin 1 beta gene DOID:0080642 Middle East respiratory syndrome ISO RGD:10790 D RGD:9068941 20200618 RGD PMID:30626685|REF_RGD_ID:30309198 8999086 Il1b interleukin 1 beta gene DOID:0080642 Middle East respiratory syndrome onset ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8999086 Il1b interleukin 1 beta gene DOID:0080642 Middle East respiratory syndrome treatment ISO RGD:10790 D RGD:9068941 20200625 RGD PMID:30634407|REF_RGD_ID:30309958 8999086 Il1b interleukin 1 beta gene DOID:0080744 antisynthetase syndrome ISO RGD:730981 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Antisynthetase syndrome PMID:18550579 8999086 Il1b interleukin 1 beta gene DOID:0080745 polymyositis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8999086 Il1b interleukin 1 beta gene DOID:0080784 urinary tract infection ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:20886104|REF_RGD_ID:7175340 8999086 Il1b interleukin 1 beta gene DOID:0080784 urinary tract infection ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:19171043|REF_RGD_ID:2311084 8999086 Il1b interleukin 1 beta gene DOID:0080855 Parkinsonism ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:17520785|REF_RGD_ID:1626658 8999086 Il1b interleukin 1 beta gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:peritoneal macrophages (rat) PMID:22964727|REF_RGD_ID:7204517 8999086 Il1b interleukin 1 beta gene DOID:0081292 traumatic brain injury ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28642177 8999086 Il1b interleukin 1 beta gene DOID:10126 keratoconus ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-31T>C (rs1143627), -511C>T (rs16944) (human) PMID:23592922|REF_RGD_ID:7401165 8999086 Il1b interleukin 1 beta gene DOID:10140 dry eye syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:rs1143634 (human) PMID:22128229|REF_RGD_ID:7401190 8999086 Il1b interleukin 1 beta gene DOID:10140 dry eye syndrome no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:rs16944, rs1143627 (human) PMID:22128229|REF_RGD_ID:7401190 8999086 Il1b interleukin 1 beta gene DOID:10223 dermatomyositis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035492 8999086 Il1b interleukin 1 beta gene DOID:10241 thalassemia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11732868|REF_RGD_ID:10450569 8999086 Il1b interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20175894|REF_RGD_ID:4142826 8999086 Il1b interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:20141620|REF_RGD_ID:4142808 8999086 Il1b interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:pleural cavity, exudate (rat) PMID:21898269|REF_RGD_ID:7175307 8999086 Il1b interleukin 1 beta gene DOID:10247 pleurisy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422 8999086 Il1b interleukin 1 beta gene DOID:10320 asbestosis ISO RGD:730981 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:8473757 8999086 Il1b interleukin 1 beta gene DOID:10325 silicosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23640035 8999086 Il1b interleukin 1 beta gene DOID:10327 anthracosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20005085 8999086 Il1b interleukin 1 beta gene DOID:10459 common cold ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:7734976|REF_RGD_ID:7401200 8999086 Il1b interleukin 1 beta gene DOID:10533 viral pneumonia ISO RGD:730981 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8999086 Il1b interleukin 1 beta gene DOID:10534 stomach cancer ISO RGD:730981 D RGD:7240710 20220209 OMIM 8999086 Il1b interleukin 1 beta gene DOID:10534 stomach cancer susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-31T>C (human) PMID:21653279|REF_RGD_ID:7401222 8999086 Il1b interleukin 1 beta gene DOID:106 pleural tuberculosis ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :3953T>C (human) PMID:10377182|REF_RGD_ID:4143226 8999086 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22963993|REF_RGD_ID:7204700 8999086 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18675847 8999086 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP: :rs1143634 (human) PMID:18830724|REF_RGD_ID:13792820 8999086 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-31T>C (human) PMID:24022074|PMID:26937653|REF_RGD_ID:11522340|REF_RGD_ID:13792818 8999086 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP: :rs1143634 (human) PMID:18830724|PMID:20413850|REF_RGD_ID:13792820|REF_RGD_ID:13793381 8999086 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease onset ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16600299|REF_RGD_ID:1626633 8999086 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:29447949|REF_RGD_ID:13792816 8999086 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23378761|REF_RGD_ID:13792819 8999086 Il1b interleukin 1 beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:24874542|REF_RGD_ID:13792817 8999086 Il1b interleukin 1 beta gene DOID:1074 kidney failure ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:21907489|REF_RGD_ID:7175305 8999086 Il1b interleukin 1 beta gene DOID:1074 kidney failure ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:20722564|REF_RGD_ID:7175345 8999086 Il1b interleukin 1 beta gene DOID:10754 otitis media IEP D RGD:11553900|PMID:10085040 20161017 RGD 8999086 Il1b interleukin 1 beta gene DOID:10762 portal hypertension ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15951934|REF_RGD_ID:1626634 8999086 Il1b interleukin 1 beta gene DOID:10763 hypertension ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21173343|REF_RGD_ID:7175338 8999086 Il1b interleukin 1 beta gene DOID:10763 hypertension ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:aorta, plasma PMID:15894892|REF_RGD_ID:1626635 8999086 Il1b interleukin 1 beta gene DOID:10763 hypertension ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:plasma PMID:15990729|REF_RGD_ID:1626638 8999086 Il1b interleukin 1 beta gene DOID:10763 hypertension ISO RGD:730981 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127 8999086 Il1b interleukin 1 beta gene DOID:10808 gastric ulcer ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376495 8999086 Il1b interleukin 1 beta gene DOID:10825 essential hypertension ISO RGD:730981 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 8999086 Il1b interleukin 1 beta gene DOID:10976 membranous glomerulonephritis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:20588061|REF_RGD_ID:7175342 8999086 Il1b interleukin 1 beta gene DOID:10983 Alport syndrome ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22937108|REF_RGD_ID:7175090 8999086 Il1b interleukin 1 beta gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder tumor (human) PMID:21308147|REF_RGD_ID:7175327 8999086 Il1b interleukin 1 beta gene DOID:11111 hydronephrosis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:renal inner medulla, urine (rat) PMID:22150692|REF_RGD_ID:7175264 8999086 Il1b interleukin 1 beta gene DOID:11204 allergic conjunctivitis treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:9326725|REF_RGD_ID:7401198 8999086 Il1b interleukin 1 beta gene DOID:11394 adult respiratory distress syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18065658|REF_RGD_ID:4142869 8999086 Il1b interleukin 1 beta gene DOID:11394 adult respiratory distress syndrome disease_progression ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:bronchioalveolar lavage fluid (human) PMID:8810593|REF_RGD_ID:4143190 8999086 Il1b interleukin 1 beta gene DOID:11396 pulmonary edema ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage;protein:increased expression:lung PMID:19875734|REF_RGD_ID:4142817 8999086 Il1b interleukin 1 beta gene DOID:11446 sciatic neuropathy treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22173123|REF_RGD_ID:7364836 8999086 Il1b interleukin 1 beta gene DOID:11476 osteoporosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22997530|REF_RGD_ID:7204491 8999086 Il1b interleukin 1 beta gene DOID:11650 bronchopulmonary dysplasia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16813970 8999086 Il1b interleukin 1 beta gene DOID:11650 bronchopulmonary dysplasia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15539764|REF_RGD_ID:4143172 8999086 Il1b interleukin 1 beta gene DOID:11832 visual epilepsy ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:16886979|REF_RGD_ID:2315919 8999086 Il1b interleukin 1 beta gene DOID:1184 nephrotic syndrome ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21359962|REF_RGD_ID:7175324 8999086 Il1b interleukin 1 beta gene DOID:1184 nephrotic syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21103916|REF_RGD_ID:7175339 8999086 Il1b interleukin 1 beta gene DOID:1184 nephrotic syndrome severity ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human) PMID:14760799|REF_RGD_ID:7175337 8999086 Il1b interleukin 1 beta gene DOID:1205 allergic disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8999086 Il1b interleukin 1 beta gene DOID:12098 trigeminal neuralgia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8999086 Il1b interleukin 1 beta gene DOID:1227 neutropenia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 8999086 Il1b interleukin 1 beta gene DOID:12337 varicocele ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:16616101|REF_RGD_ID:2311094 8999086 Il1b interleukin 1 beta gene DOID:12361 Graves' disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:2674184|REF_RGD_ID:7401207 8999086 Il1b interleukin 1 beta gene DOID:12361 Graves' disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-511C>T (human) PMID:16025481|REF_RGD_ID:7401177 8999086 Il1b interleukin 1 beta gene DOID:12385 shigellosis treatment ISO RGD:10790 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 8999086 Il1b interleukin 1 beta gene DOID:12554 hemolytic-uremic syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034 8999086 Il1b interleukin 1 beta gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8999086 Il1b interleukin 1 beta gene DOID:12662 paracoccidioidomycosis treatment ISO RGD:730981 D RGD:9068941 20201015 RGD PMID:28992214|REF_RGD_ID:39938858 8999086 Il1b interleukin 1 beta gene DOID:12934 Kearns-Sayre syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8999086 Il1b interleukin 1 beta gene DOID:12987 agranulocytosis treatment ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1331350|REF_RGD_ID:10450883 8999086 Il1b interleukin 1 beta gene DOID:13025 retinopathy of prematurity ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23113620|REF_RGD_ID:7204128 8999086 Il1b interleukin 1 beta gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:21412216|REF_RGD_ID:7175321 8999086 Il1b interleukin 1 beta gene DOID:13139 crescentic glomerulonephritis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:19959716|REF_RGD_ID:7175502 8999086 Il1b interleukin 1 beta gene DOID:13141 uveitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:8125721|REF_RGD_ID:7401166 8999086 Il1b interleukin 1 beta gene DOID:13141 uveitis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1318867|REF_RGD_ID:7401178 8999086 Il1b interleukin 1 beta gene DOID:13189 gout ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26462562 8999086 Il1b interleukin 1 beta gene DOID:13241 Behcet's disease ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14600787|REF_RGD_ID:7401213 8999086 Il1b interleukin 1 beta gene DOID:13378 Kawasaki disease ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22361326|REF_RGD_ID:6482661 8999086 Il1b interleukin 1 beta gene DOID:13378 Kawasaki disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:8777922|REF_RGD_ID:7401221 8999086 Il1b interleukin 1 beta gene DOID:13619 extrahepatic cholestasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 8999086 Il1b interleukin 1 beta gene DOID:1387 hypolipoproteinemia ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:macrophage PMID:17322100|REF_RGD_ID:1625405 8999086 Il1b interleukin 1 beta gene DOID:1389 polyneuropathy treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29307658|REF_RGD_ID:13792836 8999086 Il1b interleukin 1 beta gene DOID:14115 toxic shock syndrome severity ISO RGD:10790 D RGD:9068941 20201211 RGD protein:increased expression:lung (mouse) PMID:28659355|REF_RGD_ID:40890272 8999086 Il1b interleukin 1 beta gene DOID:14330 Parkinson's disease ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23159314|REF_RGD_ID:7175549 8999086 Il1b interleukin 1 beta gene DOID:14330 Parkinson's disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:12070246|REF_RGD_ID:1358742 8999086 Il1b interleukin 1 beta gene DOID:14566 disease of cellular proliferation ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22467534 8999086 Il1b interleukin 1 beta gene DOID:1485 cystic fibrosis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:10515411|REF_RGD_ID:4143181 8999086 Il1b interleukin 1 beta gene DOID:1485 cystic fibrosis severity ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1143634, rs1143639 (human) PMID:19431193|REF_RGD_ID:4142844 8999086 Il1b interleukin 1 beta gene DOID:1555 urticaria ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 8999086 Il1b interleukin 1 beta gene DOID:1588 thrombocytopenia treatment ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1331350|REF_RGD_ID:10450883 8999086 Il1b interleukin 1 beta gene DOID:1596 depressive disorder ISO RGD:10790 D RGD:9068941 20210507 RGD protein:increased expression:serum, hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 8999086 Il1b interleukin 1 beta gene DOID:1596 depressive disorder ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, hippocampus, hypothalamus (rat) PMID:15000880|REF_RGD_ID:1626681 8999086 Il1b interleukin 1 beta gene DOID:1596 depressive disorder ISO RGD:730981 D RGD:9068941 20210528 RGD associated with gastric adenocarcinoma; protein:increased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 8999086 Il1b interleukin 1 beta gene DOID:1612 breast cancer susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-31T>C (human) PMID:21653279|REF_RGD_ID:7401222 8999086 Il1b interleukin 1 beta gene DOID:1679 cystitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23000860|REF_RGD_ID:7175333 8999086 Il1b interleukin 1 beta gene DOID:1679 cystitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:11948286|REF_RGD_ID:6907118 8999086 Il1b interleukin 1 beta gene DOID:1727 retinal vein occlusion ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) PMID:21487926|REF_RGD_ID:5490120 8999086 Il1b interleukin 1 beta gene DOID:1793 pancreatic cancer ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:7787209|REF_RGD_ID:2311069 8999086 Il1b interleukin 1 beta gene DOID:1793 pancreatic cancer susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-511C>T, -31T>C (human) PMID:19251436|REF_RGD_ID:2317215 8999086 Il1b interleukin 1 beta gene DOID:182 calcinosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8999086 Il1b interleukin 1 beta gene DOID:1824 status epilepticus ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22960129|REF_RGD_ID:7204701 8999086 Il1b interleukin 1 beta gene DOID:1824 status epilepticus ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus (rat) PMID:14678765|REF_RGD_ID:1626682 8999086 Il1b interleukin 1 beta gene DOID:1826 epilepsy ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:brain,plasma PMID:28303499|REF_RGD_ID:13524859 8999086 Il1b interleukin 1 beta gene DOID:1883 hepatitis C ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Glomerulonephritis; protein:increased expression:serum (human) PMID:21623661|REF_RGD_ID:7175316 8999086 Il1b interleukin 1 beta gene DOID:1936 atherosclerosis ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic PMID:21245127|REF_RGD_ID:7175328 8999086 Il1b interleukin 1 beta gene DOID:1936 atherosclerosis ameliorates ISO RGD:10790 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 8999086 Il1b interleukin 1 beta gene DOID:216 dental caries ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP: :rs1143627C>T (human) PMID:30803280|REF_RGD_ID:14975276 8999086 Il1b interleukin 1 beta gene DOID:2228 thrombocytosis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:2265245|REF_RGD_ID:10450885 8999086 Il1b interleukin 1 beta gene DOID:224 transient cerebral ischemia ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22284622|REF_RGD_ID:7175554 8999086 Il1b interleukin 1 beta gene DOID:224 transient cerebral ischemia ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23147509|REF_RGD_ID:7175551 8999086 Il1b interleukin 1 beta gene DOID:2297 leptospirosis ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:22323544|REF_RGD_ID:7175257 8999086 Il1b interleukin 1 beta gene DOID:2316 brain ischemia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15737438|PMID:15756928|PMID:17394460|PMID:9236716 8999086 Il1b interleukin 1 beta gene DOID:2349 arteriosclerosis ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Chlamydia Infections PMID:17132885|REF_RGD_ID:1626629 8999086 Il1b interleukin 1 beta gene DOID:2349 arteriosclerosis ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:monocyte PMID:17189873|REF_RGD_ID:1626627 8999086 Il1b interleukin 1 beta gene DOID:2349 arteriosclerosis susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:17213232|REF_RGD_ID:1626624 8999086 Il1b interleukin 1 beta gene DOID:2355 anemia ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;protein:increased expression:serum PMID:3264697|REF_RGD_ID:10450886 8999086 Il1b interleukin 1 beta gene DOID:2377 multiple sclerosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15210533|PMID:25458313 8999086 Il1b interleukin 1 beta gene DOID:2377 multiple sclerosis severity ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:10025794|REF_RGD_ID:1358741 8999086 Il1b interleukin 1 beta gene DOID:2527 nephrosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22582804|REF_RGD_ID:7175170 8999086 Il1b interleukin 1 beta gene DOID:2841 asthma ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:19684087|REF_RGD_ID:4142836 8999086 Il1b interleukin 1 beta gene DOID:2841 asthma ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9176529 8999086 Il1b interleukin 1 beta gene DOID:2841 asthma ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:neutrophil PMID:19842845|REF_RGD_ID:4142830 8999086 Il1b interleukin 1 beta gene DOID:2841 asthma susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :-511C>T (human) PMID:18926055|REF_RGD_ID:4142864 8999086 Il1b interleukin 1 beta gene DOID:289 endometriosis ISO RGD:730981 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Endometriosis PMID:18550579 8999086 Il1b interleukin 1 beta gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21871881|REF_RGD_ID:7175308 8999086 Il1b interleukin 1 beta gene DOID:2921 glomerulonephritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440|PMID:9403216 8999086 Il1b interleukin 1 beta gene DOID:2942 bronchiolitis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8608647|REF_RGD_ID:4143192 8999086 Il1b interleukin 1 beta gene DOID:2945 severe acute respiratory syndrome ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:altered expression:lung (mouse) PMID:32364527|REF_RGD_ID:27226699 8999086 Il1b interleukin 1 beta gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:10790 D RGD:9068941 20200618 RGD mRNA, protein:increased expression:lung, bronchoalveolar lavage (mouse) PMID:32365944|REF_RGD_ID:30309207 8999086 Il1b interleukin 1 beta gene DOID:2957 pulmonary tuberculosis severity ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:bronchioalveolar lavage fluid (human) PMID:10631206|REF_RGD_ID:4143179 8999086 Il1b interleukin 1 beta gene DOID:2957 pulmonary tuberculosis severity ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:10543265|REF_RGD_ID:4143180 8999086 Il1b interleukin 1 beta gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :3953T>C (human) PMID:16634865|REF_RGD_ID:5147843 8999086 Il1b interleukin 1 beta gene DOID:2986 IgA glomerulonephritis ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1143627, rs3917356, rs1143633 (human) PMID:19280228|REF_RGD_ID:6907082 8999086 Il1b interleukin 1 beta gene DOID:2986 IgA glomerulonephritis no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP PMID:21049406|REF_RGD_ID:6907116 8999086 Il1b interleukin 1 beta gene DOID:2987 familial mediterranean fever ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22384525|REF_RGD_ID:6482659 8999086 Il1b interleukin 1 beta gene DOID:299 adenocarcinoma ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 8999086 Il1b interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22286667|REF_RGD_ID:7175258 8999086 Il1b interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, liver, spleen (mouse) PMID:21677145|REF_RGD_ID:7175314 8999086 Il1b interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22750969|REF_RGD_ID:7175094 8999086 Il1b interleukin 1 beta gene DOID:3021 acute kidney failure ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:22659586|REF_RGD_ID:7175102 8999086 Il1b interleukin 1 beta gene DOID:3068 glioblastoma ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16356833 8999086 Il1b interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :-31T>C (human) PMID:18364273|REF_RGD_ID:4142868 8999086 Il1b interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-31T>C, 3953T>C (human) PMID:17380888|REF_RGD_ID:4142873 8999086 Il1b interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-31T>C, -511C>T (human) PMID:18579366|REF_RGD_ID:4142866 8999086 Il1b interleukin 1 beta gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms: :-31T>C, 3954T>C (human) PMID:15766560|REF_RGD_ID:4143169 8999086 Il1b interleukin 1 beta gene DOID:310 MERRF Syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8999086 Il1b interleukin 1 beta gene DOID:3229 gastric dilatation ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:30249047|REF_RGD_ID:14975138 8999086 Il1b interleukin 1 beta gene DOID:3310 atopic dermatitis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 8999086 Il1b interleukin 1 beta gene DOID:3393 coronary artery disease ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood (human) PMID:22780915|REF_RGD_ID:7175093 8999086 Il1b interleukin 1 beta gene DOID:3454 brain infarction ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:17678971|REF_RGD_ID:1626644 8999086 Il1b interleukin 1 beta gene DOID:3482 plague ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:20565713|REF_RGD_ID:4142820 8999086 Il1b interleukin 1 beta gene DOID:3525 middle cerebral artery infarction ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:23028794|REF_RGD_ID:7204480 8999086 Il1b interleukin 1 beta gene DOID:3525 middle cerebral artery infarction ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25257527 8999086 Il1b interleukin 1 beta gene DOID:3525 middle cerebral artery infarction ameliorates ISO RGD:2891 D RGD:9068941 20230330 RGD PMID:35322553|REF_RGD_ID:242905190 8999086 Il1b interleukin 1 beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:24916922|PMID:29498696|REF_RGD_ID:10450594|REF_RGD_ID:13792833 8999086 Il1b interleukin 1 beta gene DOID:3526 cerebral infarction treatment ISO RGD:10790 D RGD:9068941 20220930 RGD PMID:29111308|REF_RGD_ID:155260331 8999086 Il1b interleukin 1 beta gene DOID:3612 retinitis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:9008627|REF_RGD_ID:7401167 8999086 Il1b interleukin 1 beta gene DOID:3687 MELAS syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8999086 Il1b interleukin 1 beta gene DOID:37 skin disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338|PMID:22533443 8999086 Il1b interleukin 1 beta gene DOID:3717 gastric adenocarcinoma ISO RGD:730981 D RGD:9068941 20210507 RGD protein:increased expression:blood serum (human) PMID:31396300|REF_RGD_ID:126908003 8999086 Il1b interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20522787|REF_RGD_ID:4142535 8999086 Il1b interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23132788|REF_RGD_ID:7193137 8999086 Il1b interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19945540|REF_RGD_ID:4142813 8999086 Il1b interleukin 1 beta gene DOID:3770 pulmonary fibrosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17266442|PMID:23640035 8999086 Il1b interleukin 1 beta gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism: :-31T>C (human) PMID:16126303|REF_RGD_ID:4143167 8999086 Il1b interleukin 1 beta gene DOID:4079 heart valve disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 8999086 Il1b interleukin 1 beta gene DOID:418 systemic scleroderma susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:-31T>C,-511C>T (human) PMID:17444587|REF_RGD_ID:4142872 8999086 Il1b interleukin 1 beta gene DOID:4195 hyperglycemia ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17047293|REF_RGD_ID:1626631 8999086 Il1b interleukin 1 beta gene DOID:4362 cervical cancer susceptibility ISO RGD:730981 D RGD:9068941 20200724 RGD associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) PMID:25893807|REF_RGD_ID:36174015 8999086 Il1b interleukin 1 beta gene DOID:4481 allergic rhinitis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:7750009|REF_RGD_ID:7401199 8999086 Il1b interleukin 1 beta gene DOID:4483 rhinitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium PMID:20490816|REF_RGD_ID:4142821 8999086 Il1b interleukin 1 beta gene DOID:4483 rhinitis ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Hypersensitivity;protein:increased expression:nasal mucus PMID:10224452|REF_RGD_ID:4143227 8999086 Il1b interleukin 1 beta gene DOID:4483 rhinitis susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Hypersensitivity;DNA:polymorphism: :-511C>T (human) PMID:14533660|REF_RGD_ID:4142859 8999086 Il1b interleukin 1 beta gene DOID:4692 endophthalmitis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:vitreous: PMID:16544114|REF_RGD_ID:7829753 8999086 Il1b interleukin 1 beta gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:22046355|REF_RGD_ID:6893447 8999086 Il1b interleukin 1 beta gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:9198037|REF_RGD_ID:7401232 8999086 Il1b interleukin 1 beta gene DOID:4947 cholangiocarcinoma ISO RGD:730981 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:18550579 8999086 Il1b interleukin 1 beta gene DOID:4989 pancreatitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23070084|REF_RGD_ID:7204440 8999086 Il1b interleukin 1 beta gene DOID:5041 esophageal cancer treatment ISO RGD:730981 D RGD:9068941 20220715 RGD PMID:26603620|REF_RGD_ID:152998997 8999086 Il1b interleukin 1 beta gene DOID:5082 liver cirrhosis ISO RGD:2891 D RGD:9068941 20240125 RGD associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337 8999086 Il1b interleukin 1 beta gene DOID:5199 ureteral obstruction ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:22048127|REF_RGD_ID:7175301 8999086 Il1b interleukin 1 beta gene DOID:5199 ureteral obstruction ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21370451|REF_RGD_ID:7175323 8999086 Il1b interleukin 1 beta gene DOID:535 sleep disorder ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17520785 8999086 Il1b interleukin 1 beta gene DOID:5419 schizophrenia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 8999086 Il1b interleukin 1 beta gene DOID:5463 cochlear disease treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29304389|REF_RGD_ID:13792837 8999086 Il1b interleukin 1 beta gene DOID:552 pneumonia ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:19901996|PMID:20007584|REF_RGD_ID:4142812|REF_RGD_ID:4143211 8999086 Il1b interleukin 1 beta gene DOID:552 pneumonia ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20155581|REF_RGD_ID:4142827 8999086 Il1b interleukin 1 beta gene DOID:552 pneumonia ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20476872|REF_RGD_ID:4142536 8999086 Il1b interleukin 1 beta gene DOID:552 pneumonia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 8999086 Il1b interleukin 1 beta gene DOID:552 pneumonia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:19825784|REF_RGD_ID:4142831 8999086 Il1b interleukin 1 beta gene DOID:552 pneumonia ISO RGD:730981 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 8999086 Il1b interleukin 1 beta gene DOID:5614 eye disease ISO RGD:730981 D RGD:9068941 20200609 RGD asociated with Behcet's disease PMID:26654556|REF_RGD_ID:14975256 8999086 Il1b interleukin 1 beta gene DOID:5844 myocardial infarction ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23143013|REF_RGD_ID:7175553 8999086 Il1b interleukin 1 beta gene DOID:5844 myocardial infarction ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23237935|REF_RGD_ID:7204425 8999086 Il1b interleukin 1 beta gene DOID:5844 myocardial infarction ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11743230|PMID:15883752|PMID:16310260 8999086 Il1b interleukin 1 beta gene DOID:5844 myocardial infarction ameliorates ISO RGD:2891 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 8999086 Il1b interleukin 1 beta gene DOID:6000 congestive heart failure ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15135663 8999086 Il1b interleukin 1 beta gene DOID:614 lymphopenia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 8999086 Il1b interleukin 1 beta gene DOID:630 genetic disease ISO RGD:730981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999086 Il1b interleukin 1 beta gene DOID:6432 pulmonary hypertension ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Scleroderma, Limited;protein:increased expression:serum PMID:20808962|REF_RGD_ID:4892610 8999086 Il1b interleukin 1 beta gene DOID:6432 pulmonary hypertension ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20713898|REF_RGD_ID:4142530 8999086 Il1b interleukin 1 beta gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-31T>C (human) PMID:21653279|REF_RGD_ID:7401222 8999086 Il1b interleukin 1 beta gene DOID:699 mitochondrial myopathy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8999086 Il1b interleukin 1 beta gene DOID:705 Leber hereditary optic neuropathy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8999086 Il1b interleukin 1 beta gene DOID:7148 rheumatoid arthritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12566094|PMID:17379860|PMID:22450443 8999086 Il1b interleukin 1 beta gene DOID:7148 rheumatoid arthritis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22414257|REF_RGD_ID:6482656 8999086 Il1b interleukin 1 beta gene DOID:7148 rheumatoid arthritis ISO RGD:730981 D RGD:9068941 20221117 RGD mRNA:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 8999086 Il1b interleukin 1 beta gene DOID:7427 anthrax disease disease_progression ISO RGD:10790 D RGD:9068941 20201211 RGD mRNA:decreased expression:multiple (mouse) PMID:19075243|REF_RGD_ID:40902812 8999086 Il1b interleukin 1 beta gene DOID:750 peptic ulcer disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19448967 8999086 Il1b interleukin 1 beta gene DOID:769 neuroblastoma ISO RGD:730981 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 8999086 Il1b interleukin 1 beta gene DOID:7693 abdominal aortic aneurysm ISO RGD:2891 D RGD:9068941 20201002 RGD protein:decreased expression:serum (rat) PMID:15238617|REF_RGD_ID:1302825 8999086 Il1b interleukin 1 beta gene DOID:783 end stage renal disease ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22031851|REF_RGD_ID:7175302 8999086 Il1b interleukin 1 beta gene DOID:783 end stage renal disease ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:20199183|REF_RGD_ID:7175346 8999086 Il1b interleukin 1 beta gene DOID:783 end stage renal disease no_association ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP PMID:20551628|REF_RGD_ID:6907070 8999086 Il1b interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (mouse) PMID:21975861|REF_RGD_ID:7175304 8999086 Il1b interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22728154|REF_RGD_ID:7175095 8999086 Il1b interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:22613545|REF_RGD_ID:7175169 8999086 Il1b interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Periodontitis; DNA:SNP:intron:g.3954C>T (human) PMID:22795294|REF_RGD_ID:6906881 8999086 Il1b interleukin 1 beta gene DOID:784 chronic kidney disease ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:22398717|REF_RGD_ID:7175171 8999086 Il1b interleukin 1 beta gene DOID:824 periodontitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva, stroma (rat) PMID:23167849|REF_RGD_ID:7175547 8999086 Il1b interleukin 1 beta gene DOID:824 periodontitis ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Severe Congenital Neutropenia;protein:increased expression:gingival crevicular fluid PMID:21796505|REF_RGD_ID:10450515 8999086 Il1b interleukin 1 beta gene DOID:824 periodontitis ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:gingiva PMID:22795294|REF_RGD_ID:6906881 8999086 Il1b interleukin 1 beta gene DOID:824 periodontitis treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:27795360|REF_RGD_ID:14975132 8999086 Il1b interleukin 1 beta gene DOID:824 periodontitis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:24586097|REF_RGD_ID:10450598 8999086 Il1b interleukin 1 beta gene DOID:8398 osteoarthritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21954917 8999086 Il1b interleukin 1 beta gene DOID:8398 osteoarthritis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22890185|REF_RGD_ID:7207218 8999086 Il1b interleukin 1 beta gene DOID:841 extrinsic allergic alveolitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:1519663|REF_RGD_ID:7401229 8999086 Il1b interleukin 1 beta gene DOID:841 extrinsic allergic alveolitis disease_progression ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19556641|REF_RGD_ID:4142842 8999086 Il1b interleukin 1 beta gene DOID:850 lung disease ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Hyperoxia;mRNA, protein:increased expression:lung PMID:9641262|REF_RGD_ID:4143189 8999086 Il1b interleukin 1 beta gene DOID:850 lung disease ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:lung PMID:19941004|REF_RGD_ID:4142814 8999086 Il1b interleukin 1 beta gene DOID:850 lung disease ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Endotoxemia;protein:increased expression:lung PMID:19843795|REF_RGD_ID:4142819 8999086 Il1b interleukin 1 beta gene DOID:850 lung disease ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Pancreatitis;protein:increased expression:serum PMID:19926967|REF_RGD_ID:4142815 8999086 Il1b interleukin 1 beta gene DOID:850 lung disease ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Shock, Hemorrhagic PMID:20041965|REF_RGD_ID:4142810 8999086 Il1b interleukin 1 beta gene DOID:850 lung disease susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:SNP: :3962C>T (human) PMID:17584583|REF_RGD_ID:4142870 8999086 Il1b interleukin 1 beta gene DOID:8552 chronic myeloid leukemia severity ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:7949186|REF_RGD_ID:10450889 8999086 Il1b interleukin 1 beta gene DOID:8577 ulcerative colitis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:24812904|REF_RGD_ID:10450593 8999086 Il1b interleukin 1 beta gene DOID:8577 ulcerative colitis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12133438|PMID:15955209|PMID:20452301|PMID:22119283 8999086 Il1b interleukin 1 beta gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23158403|REF_RGD_ID:7175550 8999086 Il1b interleukin 1 beta gene DOID:869 cholesteatoma ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1384343|PMID:8725537|REF_RGD_ID:7401205|REF_RGD_ID:7401208 8999086 Il1b interleukin 1 beta gene DOID:8725 vascular dementia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16600299|REF_RGD_ID:1626633 8999086 Il1b interleukin 1 beta gene DOID:874 bacterial pneumonia ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:18596024|REF_RGD_ID:4143205 8999086 Il1b interleukin 1 beta gene DOID:874 bacterial pneumonia severity ISO RGD:10790 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 8999086 Il1b interleukin 1 beta gene DOID:874 bacterial pneumonia treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Agranulocytosis PMID:7546648|REF_RGD_ID:10755357 8999086 Il1b interleukin 1 beta gene DOID:8893 psoriasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7744320 8999086 Il1b interleukin 1 beta gene DOID:8927 learning disability ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21290410 8999086 Il1b interleukin 1 beta gene DOID:8929 atrophic gastritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19448967 8999086 Il1b interleukin 1 beta gene DOID:8947 diabetic retinopathy ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:decreased tyrosine phosphorylation:vitreous humor PMID:18978347|REF_RGD_ID:2307061 8999086 Il1b interleukin 1 beta gene DOID:8947 diabetic retinopathy ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum, vitreous humour PMID:16284605|REF_RGD_ID:7401212 8999086 Il1b interleukin 1 beta gene DOID:8991 cervix uteri carcinoma in situ susceptibility ISO RGD:730981 D RGD:9068941 20200724 RGD associated with Papillomavirus Infections;DNA:SNP:promoter: -511 C>T (rs16944)(human) PMID:25893807|REF_RGD_ID:36174015 8999086 Il1b interleukin 1 beta gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Cholelithiasis;DNA:polymorphism:promoter:-511C>T (human) PMID:18940468|REF_RGD_ID:2317216 8999086 Il1b interleukin 1 beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23209732|REF_RGD_ID:7175523 8999086 Il1b interleukin 1 beta gene DOID:9000039 Spinal Cord Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:16038625|REF_RGD_ID:1626673 8999086 Il1b interleukin 1 beta gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29691718|REF_RGD_ID:14975124 8999086 Il1b interleukin 1 beta gene DOID:9000099 Experimental Colitis treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:31175857|REF_RGD_ID:14975282 8999086 Il1b interleukin 1 beta gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:22253906|REF_RGD_ID:7175262 8999086 Il1b interleukin 1 beta gene DOID:9000173 Eye Burns ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:9618720|REF_RGD_ID:7794723 8999086 Il1b interleukin 1 beta gene DOID:9000197 Edema treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Inflammation PMID:2611121|REF_RGD_ID:7401193 8999086 Il1b interleukin 1 beta gene DOID:9000217 Stomach Neoplasms ISO RGD:730981 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:15492468|PMID:19584167|PMID:22414649 8999086 Il1b interleukin 1 beta gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2891 D RGD:9068941 20240125 RGD mRNA, protein:increased expression:liver (rat) PMID:32626927|REF_RGD_ID:401959337 8999086 Il1b interleukin 1 beta gene DOID:9000304 Manganese Poisoning ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18041089 8999086 Il1b interleukin 1 beta gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22467534 8999086 Il1b interleukin 1 beta gene DOID:9000412 Presenile and Senile Dementia ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23126199|REF_RGD_ID:7193138 8999086 Il1b interleukin 1 beta gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27157545 8999086 Il1b interleukin 1 beta gene DOID:9000528 Coronary Disease ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15379752|REF_RGD_ID:1626636 8999086 Il1b interleukin 1 beta gene DOID:9000540 HIV Wasting Syndrome ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7979221 8999086 Il1b interleukin 1 beta gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10790 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:14754758|REF_RGD_ID:4143217 8999086 Il1b interleukin 1 beta gene DOID:9000784 Fibrosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25388157 8999086 Il1b interleukin 1 beta gene DOID:9000808 Hypercholesterolemia ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17330503|REF_RGD_ID:1626623 8999086 Il1b interleukin 1 beta gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11121210 8999086 Il1b interleukin 1 beta gene DOID:9000918 Disease Progression ISO RGD:730981 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 8999086 Il1b interleukin 1 beta gene DOID:9000927 Alveolar Bone Loss treatment ISO RGD:2891 D RGD:9068941 20230720 RGD associated with periodontal disease PMID:33364953|REF_RGD_ID:329956421 8999086 Il1b interleukin 1 beta gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20574227|REF_RGD_ID:4142534 8999086 Il1b interleukin 1 beta gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22007788|REF_RGD_ID:6482672 8999086 Il1b interleukin 1 beta gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20452617|REF_RGD_ID:4142537 8999086 Il1b interleukin 1 beta gene DOID:9000972 Fever ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:hypothalamus PMID:16455768|REF_RGD_ID:1626671 8999086 Il1b interleukin 1 beta gene DOID:9000972 Fever ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11852909|PMID:15384034|PMID:22143887|PMID:25164664|PMID:9952427 8999086 Il1b interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17612572|REF_RGD_ID:1626652 8999086 Il1b interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:16024175|REF_RGD_ID:2311098 8999086 Il1b interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:brain, cerebrospinal fluid PMID:22503903|REF_RGD_ID:6482651 8999086 Il1b interleukin 1 beta gene DOID:9000998 Brain Injuries ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19800810|PMID:21549006 8999086 Il1b interleukin 1 beta gene DOID:9001039 Leukocytosis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:19633061|REF_RGD_ID:4142837 8999086 Il1b interleukin 1 beta gene DOID:9001039 Leukocytosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 8999086 Il1b interleukin 1 beta gene DOID:9001039 Leukocytosis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1581467|REF_RGD_ID:10450884 8999086 Il1b interleukin 1 beta gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:1323256 D RGD:9068941 20200609 RGD PMID:20065029|REF_RGD_ID:4142828 8999086 Il1b interleukin 1 beta gene DOID:9001109 Anorexia ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:22902858|REF_RGD_ID:13825124 8999086 Il1b interleukin 1 beta gene DOID:9001109 Anorexia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12077204|PMID:25392278 8999086 Il1b interleukin 1 beta gene DOID:9001142 Drug-Induced Agranulocytosis treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Glioblastoma; PMID:1331350|REF_RGD_ID:10450883 8999086 Il1b interleukin 1 beta gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD tibial and peroneal nerves PMID:23121415|REF_RGD_ID:7204126 8999086 Il1b interleukin 1 beta gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23009062|REF_RGD_ID:7204488 8999086 Il1b interleukin 1 beta gene DOID:9001488 Human Influenza ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:20438620|REF_RGD_ID:4142822 8999086 Il1b interleukin 1 beta gene DOID:9001542 Albuminuria ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:23103566|REF_RGD_ID:7175089 8999086 Il1b interleukin 1 beta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16085334 8999086 Il1b interleukin 1 beta gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:24383550|REF_RGD_ID:10450610 8999086 Il1b interleukin 1 beta gene DOID:9001708 Hemorrhagic Shock ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15580020|PMID:17545943|REF_RGD_ID:1626655|REF_RGD_ID:2311100 8999086 Il1b interleukin 1 beta gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:kidney, serum (rat) PMID:21336199|REF_RGD_ID:7175325 8999086 Il1b interleukin 1 beta gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:7890488|REF_RGD_ID:7401191 8999086 Il1b interleukin 1 beta gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:21468628|REF_RGD_ID:7175318 8999086 Il1b interleukin 1 beta gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:10790 D RGD:9068941 20230629 RGD PMID:34400126|REF_RGD_ID:329902072 8999086 Il1b interleukin 1 beta gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:10790 D RGD:9068941 20220930 RGD PMID:32155285|REF_RGD_ID:155260323 8999086 Il1b interleukin 1 beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:22086159|REF_RGD_ID:7175266 8999086 Il1b interleukin 1 beta gene DOID:9002165 Diabetic Nephropathies ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19769609|REF_RGD_ID:7175519 8999086 Il1b interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:15317861|PMID:22265659|REF_RGD_ID:1626676|REF_RGD_ID:6482671 8999086 Il1b interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries PMID:23159984|REF_RGD_ID:7175548 8999086 Il1b interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10401557|PMID:12727271|PMID:17320857|PMID:20937348|PMID:27093858|PMID:7582491 8999086 Il1b interleukin 1 beta gene DOID:9002211 Hyperalgesia ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:8741165|REF_RGD_ID:7401209 8999086 Il1b interleukin 1 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-511C>T (human) PMID:18271063|REF_RGD_ID:11051967 8999086 Il1b interleukin 1 beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:730981 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:10870116|REF_RGD_ID:11522755 8999086 Il1b interleukin 1 beta gene DOID:9002371 Cardiotoxicity ISO RGD:730981 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32068018 8999086 Il1b interleukin 1 beta gene DOID:9002457 Experimental Arthritis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21557995|REF_RGD_ID:7175317 8999086 Il1b interleukin 1 beta gene DOID:9002457 Experimental Arthritis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23140046|REF_RGD_ID:7193038 8999086 Il1b interleukin 1 beta gene DOID:9002457 Experimental Arthritis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330884|PMID:20131233|PMID:20974942|PMID:22450443 8999086 Il1b interleukin 1 beta gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:24028507|PMID:29408684|REF_RGD_ID:10755447|REF_RGD_ID:13792834 8999086 Il1b interleukin 1 beta gene DOID:9002503 Neutropenic Enterocolitis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:small intestine (rat) PMID:23228325|REF_RGD_ID:7204427 8999086 Il1b interleukin 1 beta gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:2891 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 8999086 Il1b interleukin 1 beta gene DOID:9002775 Cognitive Dysfunction ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:23251531|REF_RGD_ID:7204493 8999086 Il1b interleukin 1 beta gene DOID:9002775 Cognitive Dysfunction ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23251531|REF_RGD_ID:7204493 8999086 Il1b interleukin 1 beta gene DOID:9002805 Enterocolitis ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:cecum (rat) PMID:8144001|REF_RGD_ID:2311103 8999086 Il1b interleukin 1 beta gene DOID:9002906 Multiple Organ Failure ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:21323892|REF_RGD_ID:7175326 8999086 Il1b interleukin 1 beta gene DOID:9002906 Multiple Organ Failure ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Heat Stroke PMID:21392091|REF_RGD_ID:7175322 8999086 Il1b interleukin 1 beta gene DOID:9002909 Oxygen-Induced Retinopathy ameliorates ISO RGD:10790 D RGD:9068941 20230525 RGD PMID:35445044|REF_RGD_ID:329812014 8999086 Il1b interleukin 1 beta gene DOID:9002928 Colonic Neoplasms ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925|PMID:18987561|PMID:19028472 8999086 Il1b interleukin 1 beta gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype: :-511C>T (human) PMID:18484169|REF_RGD_ID:4142867 8999086 Il1b interleukin 1 beta gene DOID:9003281 Spontaneous Abortions ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 8999086 Il1b interleukin 1 beta gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:23110519|REF_RGD_ID:7204438 8999086 Il1b interleukin 1 beta gene DOID:9003730 Chemical Burns ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533443 8999086 Il1b interleukin 1 beta gene DOID:9003871 Venous Thrombosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:17651586|REF_RGD_ID:2311092 8999086 Il1b interleukin 1 beta gene DOID:9003936 Cardiomegaly ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:15542404|REF_RGD_ID:1581939 8999086 Il1b interleukin 1 beta gene DOID:9003936 Cardiomegaly ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15302781 8999086 Il1b interleukin 1 beta gene DOID:9004009 Reperfusion Injury ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10594344|PMID:12468449|PMID:15829914|PMID:19058328|PMID:19673871 8999086 Il1b interleukin 1 beta gene DOID:9004086 AIDS Dementia Complex ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:neocortex PMID:17678975|REF_RGD_ID:1626641 8999086 Il1b interleukin 1 beta gene DOID:9004118 Experimental Melanoma ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1966551|REF_RGD_ID:7401226 8999086 Il1b interleukin 1 beta gene DOID:9004283 Transplant Rejection ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:snp:intron:g.3962C>T (human) PMID:22663993|REF_RGD_ID:7175098 8999086 Il1b interleukin 1 beta gene DOID:9004283 Transplant Rejection severity ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:8094579|REF_RGD_ID:7401188 8999086 Il1b interleukin 1 beta gene DOID:9004484 Sepsis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17529909|REF_RGD_ID:1626657 8999086 Il1b interleukin 1 beta gene DOID:9004484 Sepsis ISO RGD:730981 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 8999086 Il1b interleukin 1 beta gene DOID:9004484 Sepsis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:21429520|REF_RGD_ID:7175319 8999086 Il1b interleukin 1 beta gene DOID:9004547 Thyroid Neoplasms ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 8999086 Il1b interleukin 1 beta gene DOID:9004575 Neoplasm Invasiveness ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27567548 8999086 Il1b interleukin 1 beta gene DOID:9004593 Drug-Induced Immune Thrombocytopenia treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Glioblastoma; PMID:1331350|REF_RGD_ID:10450883 8999086 Il1b interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20153312|REF_RGD_ID:4142807 8999086 Il1b interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22982561|REF_RGD_ID:7204498 8999086 Il1b interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:21767135|REF_RGD_ID:6480432 8999086 Il1b interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:8613550|REF_RGD_ID:4143193 8999086 Il1b interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20663306|REF_RGD_ID:4142531 8999086 Il1b interleukin 1 beta gene DOID:9004610 Acute Lung Injury ISO RGD:730981 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 8999086 Il1b interleukin 1 beta gene DOID:9004649 Heat Stroke ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 8999086 Il1b interleukin 1 beta gene DOID:9004649 Heat Stroke treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:10970434|REF_RGD_ID:12902613 8999086 Il1b interleukin 1 beta gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9032749 8999086 Il1b interleukin 1 beta gene DOID:9004932 Eales Disease ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:19585364|REF_RGD_ID:7401211 8999086 Il1b interleukin 1 beta gene DOID:9005172 Lung Neoplasms ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22369883|PMID:28212736 8999086 Il1b interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Anoxia PMID:22994521|REF_RGD_ID:7204492 8999086 Il1b interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Cholestasis;mRNA:increased expression:liver PMID:17676395|REF_RGD_ID:1626645 8999086 Il1b interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Hypersensitivity, Delayed;protein:increased expression:brain, plasma PMID:15050649|REF_RGD_ID:1626679 8999086 Il1b interleukin 1 beta gene DOID:9005372 Inflammation ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181422|PMID:16227999|PMID:21437948|PMID:21467745|PMID:22001142|PMID:23640035|PMID:24609059|PMID:28212736|PMID:9952427 8999086 Il1b interleukin 1 beta gene DOID:9005372 Inflammation treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:25706245|PMID:26069367|REF_RGD_ID:11059519|REF_RGD_ID:11059520 8999086 Il1b interleukin 1 beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23197974|REF_RGD_ID:7175529 8999086 Il1b interleukin 1 beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:17669395|REF_RGD_ID:1626620 8999086 Il1b interleukin 1 beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12123627 8999086 Il1b interleukin 1 beta gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22094062|REF_RGD_ID:7175334 8999086 Il1b interleukin 1 beta gene DOID:9005729 Chronic Experimental Pancreatitis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:22173919|REF_RGD_ID:10044253 8999086 Il1b interleukin 1 beta gene DOID:9005749 Necrosis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10631206|PMID:10903806|PMID:10909967 8999086 Il1b interleukin 1 beta gene DOID:9005930 Endotoxemia ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17201737|REF_RGD_ID:1626625 8999086 Il1b interleukin 1 beta gene DOID:9005941 Rhinosinusitis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11197112|REF_RGD_ID:7401169 8999086 Il1b interleukin 1 beta gene DOID:9006024 Hypotension ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15384034|PMID:1884014 8999086 Il1b interleukin 1 beta gene DOID:9006205 Animal Disease Models ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 8999086 Il1b interleukin 1 beta gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:20030532|REF_RGD_ID:7175501 8999086 Il1b interleukin 1 beta gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:10790 D RGD:9068941 20230601 RGD PMID:24920753|REF_RGD_ID:329845564 8999086 Il1b interleukin 1 beta gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22959208|REF_RGD_ID:7204702 8999086 Il1b interleukin 1 beta gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:2891 D RGD:9068941 20240208 RGD protein:increased expression:hippocampus (rat) PMID:33390808|REF_RGD_ID:401965467 8999086 Il1b interleukin 1 beta gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:2891 D RGD:9068941 20240118 RGD PMID:29571823|REF_RGD_ID:401959211 8999086 Il1b interleukin 1 beta gene DOID:9006388 Vulvar Vestibulitis ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:9015038|REF_RGD_ID:7394738 8999086 Il1b interleukin 1 beta gene DOID:9006554 Pancreatic Cyst disease_progression ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:21266527|REF_RGD_ID:7794719 8999086 Il1b interleukin 1 beta gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:18400050|REF_RGD_ID:7401218 8999086 Il1b interleukin 1 beta gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23142117|REF_RGD_ID:7183185 8999086 Il1b interleukin 1 beta gene DOID:9006827 Lung Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:23122581|REF_RGD_ID:7204125 8999086 Il1b interleukin 1 beta gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:10790 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 8999086 Il1b interleukin 1 beta gene DOID:9006939 Lyme Neuroborreliosis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23134838|REF_RGD_ID:7193053 8999086 Il1b interleukin 1 beta gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:11895986|REF_RGD_ID:7401195 8999086 Il1b interleukin 1 beta gene DOID:9007096 Stroke ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10950380 8999086 Il1b interleukin 1 beta gene DOID:9007102 Myocardial Ischemia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 8999086 Il1b interleukin 1 beta gene DOID:9007334 Small-For-Size Syndrome treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:22955229|REF_RGD_ID:8655911 8999086 Il1b interleukin 1 beta gene DOID:9007346 Cachexia ISO RGD:2891 D RGD:9068941 20200609 RGD associated with Inflammation PMID:15005009|REF_RGD_ID:1626680 8999086 Il1b interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23102243|REF_RGD_ID:7204421 8999086 Il1b interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19164858|PMID:28138970 8999086 Il1b interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:29091898|PMID:31077717|REF_RGD_ID:14975281|REF_RGD_ID:15090820 8999086 Il1b interleukin 1 beta gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29091898|PMID:29278859|PMID:31342809|REF_RGD_ID:13793380|REF_RGD_ID:15036799|REF_RGD_ID:15090820 8999086 Il1b interleukin 1 beta gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:7486912|REF_RGD_ID:7401204 8999086 Il1b interleukin 1 beta gene DOID:9007417 Pseudomonas Infections treatment ISO RGD:730981 D RGD:9068941 20200609 RGD associated with Agranulocytosis PMID:7923933|REF_RGD_ID:10450534 8999086 Il1b interleukin 1 beta gene DOID:9007588 Heart Injuries ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17719662|REF_RGD_ID:7401227 8999086 Il1b interleukin 1 beta gene DOID:9007588 Heart Injuries ameliorates ISO RGD:10790 D RGD:9068941 20230330 RGD associated with obesity PMID:32084395|REF_RGD_ID:242905211 8999086 Il1b interleukin 1 beta gene DOID:9007692 Insulin Resistance ISO RGD:10790 D RGD:9068941 20200609 RGD associated with Obesity;mRNA:increased expression:adipose tissue PMID:16865359|REF_RGD_ID:1626632 8999086 Il1b interleukin 1 beta gene DOID:9007692 Insulin Resistance treatment ISO RGD:2891 D RGD:9068941 20200609 RGD associated with hypothalamic disease PMID:29522769|REF_RGD_ID:13792596 8999086 Il1b interleukin 1 beta gene DOID:9007730 Burns ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18277951 8999086 Il1b interleukin 1 beta gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-511C>T (rs 16944) (human) PMID:23461376|REF_RGD_ID:11051970 8999086 Il1b interleukin 1 beta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2891 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:17134725|REF_RGD_ID:1626628 8999086 Il1b interleukin 1 beta gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2891 D RGD:9068941 20220929 RGD PMID:31583047|REF_RGD_ID:155230831 8999086 Il1b interleukin 1 beta gene DOID:9007956 Febrile Seizures ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:16393156|REF_RGD_ID:1626672 8999086 Il1b interleukin 1 beta gene DOID:9007964 Arsenic Poisoning ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 8999086 Il1b interleukin 1 beta gene DOID:9008023 Memory Disorders ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21290410 8999086 Il1b interleukin 1 beta gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:10790 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 8999086 Il1b interleukin 1 beta gene DOID:9008261 Chemically-Induced Disorders ISO RGD:730981 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:36108500 8999086 Il1b interleukin 1 beta gene DOID:9008617 Lethargy ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22143887 8999086 Il1b interleukin 1 beta gene DOID:9008821 Otitis Media with Effusion IEP D RGD:11554174|PMID:8302123 20161020 RGD 8999086 Il1b interleukin 1 beta gene DOID:9008865 Entamoebiasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 8999086 Il1b interleukin 1 beta gene DOID:9008939 Breast Neoplasms ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17516992|PMID:28212736 8999086 Il1b interleukin 1 beta gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:lung (mouse) PMID:20308302|REF_RGD_ID:4142825 8999086 Il1b interleukin 1 beta gene DOID:9009039 Hyperemia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8846404 8999086 Il1b interleukin 1 beta gene DOID:9074 systemic lupus erythematosus ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:promoter:-511C>T, 3953C>T (human) PMID:15470475|REF_RGD_ID:7401214 8999086 Il1b interleukin 1 beta gene DOID:9074 systemic lupus erythematosus ISO RGD:730981 D RGD:9068941 20221117 RGD mRNA:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 8999086 Il1b interleukin 1 beta gene DOID:9111 cutaneous leishmaniasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20102417 8999086 Il1b interleukin 1 beta gene DOID:9146 visceral leishmaniasis ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404324 8999086 Il1b interleukin 1 beta gene DOID:9279 hyperhomocysteinemia ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (mouse) PMID:22647887|REF_RGD_ID:7175168 8999086 Il1b interleukin 1 beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 8999086 Il1b interleukin 1 beta gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:snp:exon:g.3968C>T rs1143634 (human) PMID:21205020|REF_RGD_ID:7175255 8999086 Il1b interleukin 1 beta gene DOID:9362 status asthmaticus ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:9927362|REF_RGD_ID:4143184 8999086 Il1b interleukin 1 beta gene DOID:9402 epididymitis ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:29311626|REF_RGD_ID:13792835 8999086 Il1b interleukin 1 beta gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2891 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 8999086 Il1b interleukin 1 beta gene DOID:9452 steatotic liver disease ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17436085|REF_RGD_ID:1626661 8999086 Il1b interleukin 1 beta gene DOID:9538 multiple myeloma ISO RGD:730981 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) PMID:17926179|REF_RGD_ID:11051973 8999086 Il1b interleukin 1 beta gene DOID:9563 bronchiectasis ISO RGD:730981 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:10515411|REF_RGD_ID:4143181 8999086 Il1b interleukin 1 beta gene DOID:9588 encephalitis ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:16006567|REF_RGD_ID:5147676 8999086 Il1b interleukin 1 beta gene DOID:9743 diabetic neuropathy treatment ISO RGD:2891 D RGD:9068941 20200609 RGD PMID:23280817|REF_RGD_ID:7401217 8999086 Il1b interleukin 1 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:1797022|REF_RGD_ID:7401233 8999086 Il1b interleukin 1 beta gene DOID:9744 type 1 diabetes mellitus ISO RGD:730981 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood, leukocyte (human) PMID:21848584|REF_RGD_ID:7175335 8999086 Il1b interleukin 1 beta gene DOID:9970 obesity ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:16567518|REF_RGD_ID:1626637 8999086 Il1b interleukin 1 beta gene DOID:9970 obesity ISO RGD:10790 D RGD:9068941 20200609 RGD protein:increased expression:plasma (mouse) PMID:23150506|REF_RGD_ID:7175086 8999086 Il1b interleukin 1 beta gene DOID:9970 obesity ISO RGD:2891 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:20490358|REF_RGD_ID:7175343 8999086 Il1b interleukin 1 beta gene DOID:9970 obesity ISO RGD:730981 D RGD:9068941 20200609 RGD PMID:28843383|REF_RGD_ID:14975146 8999086 Il1b interleukin 1 beta gene DOID:9970 obesity treatment ISO RGD:10790 D RGD:9068941 20200609 RGD PMID:24146106|REF_RGD_ID:10450599 8999086 Il1b interleukin 1 beta gene DOID:9993 hypoglycemia ISO RGD:730981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1884014 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:0060041 autism spectrum disorder ISO RGD:1348432 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:1348432 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 PMID:10969262|PMID:15128933|PMID:16549493|PMID:24033266|PMID:25741868|PMID:25942481|PMID:28492532|PMID:28548312|PMID:8201479 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:0080887 vitamin D-dependent rickets type 1B ISO RGD:1348432 D RGD:7240710 20180130 OMIM 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:0080887 vitamin D-dependent rickets type 1B ISO RGD:1348432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B PMID:10969262|PMID:15128933|PMID:16549493|PMID:22855339|PMID:24033266|PMID:25741868|PMID:25942481|PMID:27716192|PMID:28492532|PMID:28548312|PMID:32115644|PMID:33715104|PMID:8201479 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:1059 intellectual disability ISO RGD:1348432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:10591 pre-eclampsia ISO RGD:1348432 D RGD:9068941 20231130 RGD associated with hypoxia; protein:decreased expression:placenta (human) PMID:22871339|REF_RGD_ID:401901075 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:10591 pre-eclampsia ISO RGD:1348432 D RGD:9068941 20231207 RGD mRNA:decreased expression:placenta (human) PMID:32682061|PMID:36477942|REF_RGD_ID:401901078|REF_RGD_ID:401901174 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:10763 hypertension ISO RGD:1348432 D RGD:9068941 20231116 RGD DNA:SNP:CDS: rs12794714 (human) PMID:34906413|REF_RGD_ID:401900724 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:10763 hypertension ISO RGD:1348432 D RGD:9068941 20231130 RGD DNA:SNP:CDS:rs10741657|rs12794714 (human) PMID:28760944|REF_RGD_ID:401901082 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:10763 hypertension ISO RGD:1348432 D RGD:9068941 20231130 RGD DNA:SNP:CDS:rs12794714 (human) PMID:24974252|REF_RGD_ID:401901148 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:10763 hypertension ISO RGD:1348432 D RGD:9068941 20231130 RGD DNA:SNP:CDS:rs1993116|rs10741657 (human) PMID:30192652|REF_RGD_ID:401901076 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:11714 gestational diabetes ISO RGD:1348432 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1348432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to PMID:28492532 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:3393 coronary artery disease ISO RGD:1348432 D RGD:9068941 20231130 RGD DNA:SNP:CDS:rs10741657 (human) PMID:25003556|REF_RGD_ID:401901077 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:3454 brain infarction ISO RGD:1348432 D RGD:9068941 20231130 RGD DNA:variants:CDS:multiple (human) PMID:36762557|REF_RGD_ID:401901151 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:4248 coronary stenosis ISO RGD:1348432 D RGD:9068941 20231130 RGD DNA:SNP:CDS: (Rs6486205|rs10741657|rs2060793) PMID:34262949|REF_RGD_ID:401901074 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:5082 liver cirrhosis ISO RGD:1348432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:5844 myocardial infarction ISO RGD:1348432 D RGD:9068941 20231130 RGD DNA:SNP:CDS:rs2060793, rs1993116, rs10766197 (human) PMID:29804528|REF_RGD_ID:401901167 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:630 genetic disease ISO RGD:1348432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1348432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24381012 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:9006359 Vitamin D Deficiency ISO RGD:1348432 D RGD:9068941 20231116 RGD DNA:SNP:CDS: rs12794714|rs10766197 (human) PMID:34906413|REF_RGD_ID:401900724 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:9006359 Vitamin D Deficiency ISO RGD:1348432 D RGD:9068941 20231130 RGD DNA:SNP:CDS:rs12794714 (human) PMID:31814925|REF_RGD_ID:401901168 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:9006359 Vitamin D Deficiency ISO RGD:1348432 D RGD:9068941 20231130 RGD DNA:SNP:CDS:rs2060793, rs1993116, rs10766197 (human) PMID:29804528|REF_RGD_ID:401901167 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:9007692 Insulin Resistance ISO RGD:1348432 D RGD:9068941 20231116 RGD DNA:SNP:CDS: rs12794714|rs10766197 (human) PMID:34906413|REF_RGD_ID:401900724 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:9007772 Abdominal Obesity ISO RGD:1348432 D RGD:9068941 20231116 RGD DNA:SNP:CDS: rs12794714 (human) PMID:34906413|REF_RGD_ID:401900724 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:1348432 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human) PMID:17607662|REF_RGD_ID:2315692 8999097 LOC102024786 vitamin D 25-hydroxylase gene DOID:9970 obesity ISO RGD:1348432 D RGD:9068941 20231116 RGD associated with hypertension:DNA:SNP:CDS: rs12794714 (human) PMID:34906413|REF_RGD_ID:401900724 8999109 Abhd17a abhydrolase domain containing 17A, depalmitoylase gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1347246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 8999109 Abhd17a abhydrolase domain containing 17A, depalmitoylase gene DOID:5339 cyclic hematopoiesis ISO RGD:1347246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 8999109 Abhd17a abhydrolase domain containing 17A, depalmitoylase gene DOID:630 genetic disease ISO RGD:1347246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999109 Abhd17a abhydrolase domain containing 17A, depalmitoylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8999129 Slc9a7 solute carrier family 9 member A7 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8999129 Slc9a7 solute carrier family 9 member A7 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1350922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 8999129 Slc9a7 solute carrier family 9 member A7 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1350922 D RGD:7240710 20190424 OMIM 8999129 Slc9a7 solute carrier family 9 member A7 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 108 PMID:25741868|PMID:28492532|PMID:30335141 8999129 Slc9a7 solute carrier family 9 member A7 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1350922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders PMID:14985377|PMID:21441247|PMID:28492532 8999129 Slc9a7 solute carrier family 9 member A7 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1350922 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 8999129 Slc9a7 solute carrier family 9 member A7 gene DOID:12849 autistic disorder ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8999129 Slc9a7 solute carrier family 9 member A7 gene DOID:630 genetic disease ISO RGD:1350922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8999129 Slc9a7 solute carrier family 9 member A7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8999129 Slc9a7 solute carrier family 9 member A7 gene DOID:9007875 Kabuki Syndrome 2 ISO RGD:1350922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 8999165 Copb2 COPI coat complex subunit beta 2 gene DOID:0070281 primary autosomal recessive microcephaly 19 ISO RGD:732794 D RGD:7240710 20190315 OMIM 8999165 Copb2 COPI coat complex subunit beta 2 gene DOID:0070281 primary autosomal recessive microcephaly 19 ISO RGD:732794 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive PMID:25741868|PMID:28492532|PMID:29036432|PMID:34450031 8999165 Copb2 COPI coat complex subunit beta 2 gene DOID:0080600 COVID-19 ISO RGD:732794 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8999165 Copb2 COPI coat complex subunit beta 2 gene DOID:10907 microcephaly ISO RGD:1550457 D RGD:9068941 20220825 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 8999165 Copb2 COPI coat complex subunit beta 2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:732794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome 8999165 Copb2 COPI coat complex subunit beta 2 gene DOID:630 genetic disease ISO RGD:732794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8999165 Copb2 COPI coat complex subunit beta 2 gene DOID:9001870 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay ISO RGD:732794 D RGD:7240710 20220608 OMIM 8999165 Copb2 COPI coat complex subunit beta 2 gene DOID:9001870 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay ISO RGD:732794 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay PMID:25741868|PMID:34450031 8999191 Abcb10 ATP binding cassette subfamily B member 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1322567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8999191 Abcb10 ATP binding cassette subfamily B member 10 gene DOID:630 genetic disease ISO RGD:1322567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999191 Abcb10 ATP binding cassette subfamily B member 10 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1322567 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 8999191 Abcb10 ATP binding cassette subfamily B member 10 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1322567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 8999191 Abcb10 ATP binding cassette subfamily B member 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322567 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8999214 Ankrd42 ankyrin repeat domain 42 gene DOID:1059 intellectual disability ISO RGD:1605233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8999214 Ankrd42 ankyrin repeat domain 42 gene DOID:630 genetic disease ISO RGD:1605233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999234 Cnot6 CCR4-NOT transcription complex subunit 6 gene DOID:630 genetic disease ISO RGD:1347023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999253 LOC102027630 histone H4 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1346703 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 8999253 LOC102027630 histone H4 gene DOID:630 genetic disease ISO RGD:1346703 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999270 Wfikkn2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 gene DOID:630 genetic disease ISO RGD:1346693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999277 Rhpn1 rhophilin Rho GTPase binding protein 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1313863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8999277 Rhpn1 rhophilin Rho GTPase binding protein 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1313863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 8999277 Rhpn1 rhophilin Rho GTPase binding protein 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1313863 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 8999277 Rhpn1 rhophilin Rho GTPase binding protein 1 gene DOID:4621 holoprosencephaly ISO RGD:1313863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 8999277 Rhpn1 rhophilin Rho GTPase binding protein 1 gene DOID:630 genetic disease ISO RGD:1313863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999303 Glyr1 glyoxylate reductase 1 homolog gene DOID:0050651 atrioventricular septal defect ISO RGD:1319811 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 8999303 Glyr1 glyoxylate reductase 1 homolog gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1606767 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 8999303 Glyr1 glyoxylate reductase 1 homolog gene DOID:630 genetic disease ISO RGD:1606767 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999334 Epha2 EPH receptor A2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316258 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 8999334 Epha2 EPH receptor A2 gene DOID:0110229 cataract 6 multiple types ISO RGD:1316258 D RGD:7240710 20180130 OMIM 8999334 Epha2 EPH receptor A2 gene DOID:0110229 cataract 6 multiple types ISO RGD:1316258 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Age-related cortical cataract | ClinVar Annotator: match by term: Cataract 6 multiple types | ClinVar Annotator: match by term: Cataract 6, age-related cortical | ClinVar Annotator: match by term: Cataract, posterior polar, 1 PMID:12167657|PMID:15965161|PMID:16051609|PMID:16199547|PMID:17576681|PMID:19005574|PMID:19306328|PMID:19649315|PMID:20360610|PMID:20361013|PMID:20625407|PMID:22167091|PMID:22570727|PMID:22645087|PMID:22829731|PMID:23447127|PMID:24014202|PMID:24705208|PMID:24968223|PMID:25148791|PMID:25741868|PMID:26900323|PMID:27315345|PMID:28492532|PMID:29267365|PMID:29770612|PMID:32165640|PMID:9536098 8999334 Epha2 EPH receptor A2 gene DOID:13574 cortical senile cataract ISO RGD:1316258 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cortical senile cataract PMID:19649315|PMID:20625407|PMID:22645087|PMID:22829731|PMID:23447127|PMID:24705208|PMID:28492532|PMID:29267365 8999334 Epha2 EPH receptor A2 gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:1316258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22845314 8999334 Epha2 EPH receptor A2 gene DOID:14566 disease of cellular proliferation ISO RGD:1316258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21479221 8999334 Epha2 EPH receptor A2 gene DOID:3490 Noonan syndrome ISO RGD:1316258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22845314 8999334 Epha2 EPH receptor A2 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1316258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:20360610|PMID:25741868|PMID:28492532 8999334 Epha2 EPH receptor A2 gene DOID:630 genetic disease ISO RGD:1316258 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8999334 Epha2 EPH receptor A2 gene DOID:83 cataract ISO RGD:1316258 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:26694549 8999334 Epha2 EPH receptor A2 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1316258 D RGD:9068941 20220826 RGD protein:increased expression:esophagus (human) PMID:33833989|REF_RGD_ID:153344568 8999334 Epha2 EPH receptor A2 gene DOID:9000918 Disease Progression ISO RGD:1316258 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21479221 8999334 Epha2 EPH receptor A2 gene DOID:9004009 Reperfusion Injury ISO RGD:1307204 D RGD:9068941 20200609 RGD PMID:16735461|REF_RGD_ID:1580976 8999334 Epha2 EPH receptor A2 gene DOID:9007748 Retinal Neovascularization ISO RGD:1307204 D RGD:9068941 20200609 RGD PMID:16359662|REF_RGD_ID:1580975 8999334 Epha2 EPH receptor A2 gene DOID:9007748 Retinal Neovascularization ISO RGD:1316259 D RGD:9068941 20200609 RGD PMID:16359662|REF_RGD_ID:1580975 8999356 Stbd1 starch binding domain 1 gene DOID:630 genetic disease ISO RGD:1604058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999356 Stbd1 starch binding domain 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1604058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 8999377 Snrpg small nuclear ribonucleoprotein polypeptide G gene DOID:3910 lung adenocarcinoma ISO RGD:1353294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8999377 Snrpg small nuclear ribonucleoprotein polypeptide G gene DOID:630 genetic disease ISO RGD:1353294 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999377 Snrpg small nuclear ribonucleoprotein polypeptide G gene DOID:9006205 Animal Disease Models ISO RGD:1353294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 8999377 Snrpg small nuclear ribonucleoprotein polypeptide G gene DOID:9261 nasopharynx carcinoma ISO RGD:1353294 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:24080422|REF_RGD_ID:10755709 8999385 Exph5 exophilin 5 gene DOID:1059 intellectual disability ISO RGD:1604627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8999385 Exph5 exophilin 5 gene DOID:12704 ataxia telangiectasia ISO RGD:1604627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8999385 Exph5 exophilin 5 gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1604627 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 8999385 Exph5 exophilin 5 gene DOID:2730 epidermolysis bullosa ISO RGD:1604627 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 8999385 Exph5 exophilin 5 gene DOID:630 genetic disease ISO RGD:1604627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8999385 Exph5 exophilin 5 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1604627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 8999385 Exph5 exophilin 5 gene DOID:9008927 Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive ISO RGD:1604627 D RGD:7240710 20180130 OMIM 8999385 Exph5 exophilin 5 gene DOID:9008927 Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive ISO RGD:1604627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive PMID:23176819|PMID:24005056|PMID:24443915|PMID:25741868|PMID:26211931|PMID:27384765|PMID:27730671|PMID:28492532|PMID:28830826|PMID:30016581|PMID:32176379 8999396 Fam76a family with sequence similarity 76 member A gene DOID:630 genetic disease ISO RGD:1604511 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999415 Endod1 endonuclease domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1602126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8999415 Endod1 endonuclease domain containing 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1602126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 8999415 Endod1 endonuclease domain containing 1 gene DOID:630 genetic disease ISO RGD:1602126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999420 Gkap1 G kinase anchoring protein 1 gene DOID:630 genetic disease ISO RGD:1315863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999441 Cdca7 cell division cycle associated 7 gene DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 ISO RGD:1319671 D RGD:7240710 20190315 OMIM 8999441 Cdca7 cell division cycle associated 7 gene DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 ISO RGD:1319671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 3 PMID:15952214|PMID:1999836|PMID:21596365|PMID:25741868|PMID:26216346|PMID:28492532 8999441 Cdca7 cell division cycle associated 7 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1319671 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 8999441 Cdca7 cell division cycle associated 7 gene DOID:630 genetic disease ISO RGD:1319671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8999441 Cdca7 cell division cycle associated 7 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1319671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 8999461 Rnf31 ring finger protein 31 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1348836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8999461 Rnf31 ring finger protein 31 gene DOID:630 genetic disease ISO RGD:1348836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8999461 Rnf31 ring finger protein 31 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1348836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 8999461 Rnf31 ring finger protein 31 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8999461 Rnf31 ring finger protein 31 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8999461 Rnf31 ring finger protein 31 gene DOID:9005711 Immunodeficiency 115 ISO RGD:1348836 D RGD:7240710 20231206 OMIM 8999461 Rnf31 ring finger protein 31 gene DOID:9005711 Immunodeficiency 115 ISO RGD:1348836 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Immunodeficiency 115 with autoinflammation PMID:17576681|PMID:25741868|PMID:28492532|PMID:30936877|PMID:9536098 8999461 Rnf31 ring finger protein 31 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1348836 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 8999461 Rnf31 ring finger protein 31 gene DOID:9007661 Dwarfism ISO RGD:1348836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:28492532 8999503 BRCA2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer susceptibility ISO RGD:736254 D RGD:9068941 20240321 RGD DNA:mutations: : PMID:22187320|REF_RGD_ID:9068467 8999503 BRCA2 BRCA2 DNA repair associated gene DOID:2154 nephroblastoma susceptibility ISO RGD:736254 D RGD:9068941 20240321 RGD DNA:deletion, point mutations: :886delGT, 4876G>T, IVS7+2T>G PMID:15689453|REF_RGD_ID:2289049 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:18489799|PMID:20104584|PMID:21138478|PMID:22798144|PMID:22970155|PMID:24010542|PMID:24033266|PMID:24916970|PMID:25682074|PMID:25741868|PMID:25940717|PMID:26295337|PMID:26467025|PMID:26845104|PMID:28324225|PMID:28492532|PMID:28541631|PMID:28692638|PMID:28724667|PMID:28993434|PMID:29310832|PMID:29335925|PMID:29360550|PMID:29752822|PMID:29907814|PMID:30093976|PMID:30287823|PMID:30613976|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30875412|PMID:31159747|PMID:31214711|PMID:31360904|PMID:31396961|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31957001|PMID:32072338|PMID:32295079|PMID:32338768|PMID:32846166|PMID:32959997|PMID:33471991|PMID:33558524|PMID:36988593|PMID:9150172 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0050902 medulloblastoma ISO RGD:736254 D RGD:7240710 20240320 OMIM 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0050902 medulloblastoma ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17574839|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20373018|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21918853|PMID:21952622|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23233716|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:23942203|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:251866|PMID:25186627|PMID:25236687|PMID:25330149|PMID:25348012|PMID:25382762|PMID:25428789|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26425718|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26580448|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31451522|PMID:31589614|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32426482|PMID:32438681|PMID:32467295 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0050902 medulloblastoma ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32846166|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33008098|PMID:33087929|PMID:33113089|PMID:33309985|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33773534|PMID:33918338|PMID:34008015|PMID:34196900|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34657373|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35535697|PMID:35753294|PMID:36329109|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0060074 ductal carcinoma in situ onset ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:missense mutation: :5972C>T PMID:16280055|REF_RGD_ID:2289048 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0060074 ductal carcinoma in situ treatment ISO RGD:2219 D RGD:9068941 20210611 RGD PMID:25861310|REF_RGD_ID:127284854 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency, isolated autosomal recessive PMID:24389050|PMID:25558065 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula PMID:11179017|PMID:11307153|PMID:11597388|PMID:15070707|PMID:15340362|PMID:15382066|PMID:16168118|PMID:16683254|PMID:16905680|PMID:17148771|PMID:17972171|PMID:18042939|PMID:19863560|PMID:20104584|PMID:20694749|PMID:20736950|PMID:21120943|PMID:21324516|PMID:23199084|PMID:23318356|PMID:23621881|PMID:24033266|PMID:24055113|PMID:24156927|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25884701|PMID:25927356|PMID:26219728|PMID:26295337|PMID:26425718|PMID:26467025|PMID:26687385|PMID:26786923|PMID:27741520|PMID:28008555|PMID:28294317|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28715532|PMID:28724667|PMID:28831036|PMID:29161300|PMID:29339979|PMID:29360161|PMID:29446198|PMID:29478780|PMID:29625052|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30287823|PMID:30702160|PMID:30720243|PMID:30787465|PMID:31174498|PMID:31360904|PMID:31447099|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32190957|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32772980|PMID:32885271|PMID:33087929|PMID:33461583|PMID:33471991|PMID:34399810|PMID:8673090|PMID:9150172|PMID:9667259|PMID:9792861 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0080199 colorectal carcinoma ISO RGD:736254 D RGD:9068941 20210521 RGD PMID:11497291|REF_RGD_ID:126925969 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0080600 COVID-19 ISO RGD:736254 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:11802209|PMID:12601471|PMID:15290653|PMID:16683254|PMID:17026620|PMID:17924331|PMID:17997147|PMID:18060494|PMID:18593900|PMID:18607349|PMID:18951461|PMID:21990134|PMID:22505045|PMID:22711857|PMID:24052750|PMID:24323938|PMID:24549055|PMID:25479140|PMID:25639900|PMID:25741868|PMID:25863477|PMID:26467025|PMID:26633542|PMID:27276934|PMID:27352968|PMID:28492532|PMID:28637432|PMID:28724667|PMID:28888541|PMID:29084914|PMID:29161300|PMID:29339979|PMID:29394989|PMID:29446198|PMID:29753700|PMID:29875428|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29997359|PMID:30441849|PMID:30630528|PMID:30716324|PMID:30720243|PMID:31409081|PMID:31658756|PMID:31753525|PMID:32393813|PMID:32482800|PMID:32719484|PMID:32853339|PMID:32939053|PMID:33293522|PMID:33609447|PMID:33753322|PMID:33804961|PMID:35260348|PMID:35438911 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:736254 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868|PMID:26467025|PMID:28492532 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:7240710 20240320 OMIM 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:10188893|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10486320|PMID:10498392|PMID:10551859|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11062481|PMID:11106241|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11241844|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11447276|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11873550|PMID:11896095|PMID:11920621|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:12048272|PMID:12065746|PMID:12097290|PMID:12100744|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12402332|PMID:12442171|PMID:12442265|PMID:12442274|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12624724|PMID:12655567|PMID:12670525|PMID:12684407|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12815053|PMID:12845657|PMID:12920083|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:1446381|PMID:14517958|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15004464|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15235023|PMID:15290653|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15533909|PMID:15617999|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15744044|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15918047|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047333|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16211554|PMID:16234499|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16550498|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:17026620|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17333343|PMID:17341484|PMID:17419707|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17657584|PMID:17688236|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18092194|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18403564|PMID:184056|PMID:18418466|PMID:1843150|PMID:18431501|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18593900|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18703817|PMID:18704680|PMID:18724707|PMID:18779604|PMID:18819001|PMID:18824701|PMID:18844490|PMID:18951449|PMID:18951461|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19052777|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19320659|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19530235|PMID:19540122|PMID:19574032|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19747923|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19967274|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20195775|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20589654|PMID:20608899|PMID:20614180|PMID:20616022|PMID:20683152|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20887823|PMID:20927582|PMID:20960228 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:21063910|PMID:21120943|PMID:21147080|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21769658|PMID:21789034|PMID:21913181|PMID:21918853|PMID:21939546|PMID:21952622|PMID:21965345|PMID:21990134|PMID:21990165|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22632462|PMID:22638694|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22753899|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22874498|PMID:22875147|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23035815|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23249957|PMID:23318356|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23767878|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23977390|PMID:23983145|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24249303|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25146914|PMID:251866|PMID:25186627|PMID:25203624|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25330149|PMID:25348012|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25685387|PMID:25737278|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25896959|PMID:25927356|PMID:25948282|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26155992|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26425718|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26541979|PMID:26556299|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26740091|PMID:26740942|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26834852|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26867194|PMID:26898890|PMID:26915939|PMID:26920070|PMID:26968956|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27208206|PMID:27257965|PMID:27273131|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27553368|PMID:27616075|PMID:27628236|PMID:27633797|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:27878467|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28243543|PMID:28263838|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28364669|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28541631|PMID:28616458|PMID:28640387|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28767289|PMID:28807866|PMID:28814288|PMID:28831036|PMID:28843361|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28993434|PMID:29021639|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29236234|PMID:29240602|PMID:2928257|PMID:29288066|PMID:29302806|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29416040|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29667044|PMID:29681614|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29860059|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30040829|PMID:30055349|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30152102|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30207912|PMID:30212499|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30472649|PMID:30489631|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30606148|PMID:30611917|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30742731|PMID:30787465|PMID:30825404|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30972954|PMID:30982232|PMID:3108138|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31331294|PMID:31336956|PMID:31360904|PMID:31372034|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31558676|PMID:31589614|PMID:31666926|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31794323|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31869745|PMID:31874108|PMID:31887429|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32046981|PMID:32058061|PMID:32068069|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32256484|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32365798|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32521533|PMID:32581362|PMID:32606146|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32806537|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32957395|PMID:32984025|PMID:33008098|PMID:33054725|PMID:33067490 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0111089 Fanconi anemia complementation group D1 ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group D1 PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087929|PMID:33113089|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33643918|PMID:33731496|PMID:33773534|PMID:33773808|PMID:33868589|PMID:33891299|PMID:33918338|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34250417|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34500047|PMID:34503154|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657373|PMID:34660253|PMID:34687993|PMID:34697207|PMID:34741701|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35365640|PMID:35464868|PMID:35535697|PMID:35641994|PMID:35736817|PMID:35753294|PMID:35864222|PMID:35918668|PMID:35979650|PMID:36140756|PMID:36169650|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36451132|PMID:36988593|PMID:36998040|PMID:4055113|PMID:668580|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9145676|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9771877|PMID:9792861|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:736254 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 8999503 Brca2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:7240710 20240320 OMIM 8999503 Brca2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32438681|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33891299|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34445631|PMID:34567246|PMID:34917121|PMID:35472165|PMID:35535697|PMID:36988593|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8988179|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 8999503 Brca2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:1|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11170288|PMID:11179017|PMID:11267991|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11812938|PMID:11843247|PMID:11857748|PMID:11938448|PMID:12065746|PMID:12373604|PMID:12414830|PMID:12474142|PMID:12569143|PMID:12655567|PMID:12672316|PMID:12845657|PMID:12872265|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15728167|PMID:15876480|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16539696|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16826315|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17574839|PMID:17688236|PMID:17925560|PMID:17972171|PMID:17997147|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18703817|PMID:18704680|PMID:18824701|PMID:19016756|PMID:19043619|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20373018|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21156238|PMID:21205087|PMID:21232165|PMID:21324516|PMID:21520273|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21918853|PMID:21952622|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22711857|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23233716|PMID:23318356|PMID:23328489|PMID:23397983|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23635950|PMID:23725378|PMID:23767878|PMID:23942203|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24448499|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:251866|PMID:25186627|PMID:25236687|PMID:25330149|PMID:25348012|PMID:25366421|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26425718|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26580448|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27406733|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:278235|PMID:27831900|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28222693|PMID:28243543|PMID:28277317|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28687356|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29945567|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30441849|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613824 8999503 Brca2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer PMID:30630528|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31447099|PMID:31451522|PMID:31589614|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32846166|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33008098|PMID:33087929|PMID:33113089|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33773534|PMID:33891299|PMID:33918338|PMID:34008015|PMID:34196900|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34567246|PMID:34657373|PMID:34917121|PMID:34949660|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35402282|PMID:35472165|PMID:35535697|PMID:35753294|PMID:35908255|PMID:36169650|PMID:36329109|PMID:36988593|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8988179|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 8999503 Brca2 BRCA2 DNA repair associated gene DOID:10283 prostate cancer disease_progression ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutation PMID:18182994|REF_RGD_ID:2289042 8999503 Brca2 BRCA2 DNA repair associated gene DOID:10534 stomach cancer ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10227398|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11030418|PMID:11039575|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11251181|PMID:11389159|PMID:11400546|PMID:11595708|PMID:11597388|PMID:11793480|PMID:11802209|PMID:11857748|PMID:11897832|PMID:11920621|PMID:11938448|PMID:12065746|PMID:12142080|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12228710|PMID:12373604|PMID:12402332|PMID:12442265|PMID:12774040|PMID:12955716|PMID:14517958|PMID:14559878|PMID:14647210|PMID:14670928|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15290653|PMID:15548363|PMID:15645491|PMID:15689453|PMID:15695382|PMID:16199547|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16793542|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17351952|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17688236|PMID:17851763|PMID:17924331|PMID:17925560|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18424508|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18703817|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18951449|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19052777|PMID:19241424|PMID:19353265|PMID:19369211|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19609323|PMID:19620486|PMID:19656164|PMID:19656415|PMID:19795481|PMID:19796187|PMID:19805903|PMID:19912264|PMID:20104584|PMID:20215541|PMID:20373018|PMID:20406929|PMID:20513136|PMID:20736950|PMID:20858050|PMID:20927582|PMID:21120943|PMID:21138478|PMID:21190077|PMID:21233401|PMID:21318380|PMID:21324516|PMID:21465317|PMID:21497495|PMID:21559243|PMID:21598239|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22085629|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22382806|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22866093|PMID:22923021|PMID:22970155|PMID:23035815|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23265383|PMID:23328489|PMID:23348723|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23593081|PMID:23633455|PMID:23683081|PMID:23704984|PMID:23767878|PMID:23929434|PMID:23942203|PMID:23977390|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24156927|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25146914|PMID:25186627|PMID:25348012|PMID:25382762|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25682074|PMID:25741868|PMID:25777348|PMID:25802882|PMID:25863477|PMID:25940717|PMID:25948282|PMID:26023681|PMID:26026974|PMID:26064523|PMID:26183948|PMID:26187060|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26306726|PMID:26360800|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26576347|PMID:26586665|PMID:26657402|PMID:26681312|PMID:26681678|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26834852|PMID:26845104|PMID:26848529|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27153395|PMID:27157322|PMID:27257965|PMID:27271530|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28090007|PMID:28102861|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28195393|PMID:28205045|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28423363|PMID:28477318|PMID:28486781 8999503 Brca2 BRCA2 DNA repair associated gene DOID:10534 stomach cancer ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:28492532|PMID:28495237|PMID:28541631|PMID:28655807|PMID:28657667|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28825054|PMID:28825143|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28993434|PMID:29020732|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29673794|PMID:29681614|PMID:29707112|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29988080|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30203341|PMID:30217213|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30472649|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30630528|PMID:30652428|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30883759|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31432501|PMID:31447099|PMID:31454914|PMID:31497750|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31666926|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32072338|PMID:32073954|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32365798|PMID:32393398|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32486089|PMID:32489267|PMID:32581362|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32778078|PMID:32820175|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32959997|PMID:32980694|PMID:33008098|PMID:33054725|PMID:33067557|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33372952|PMID:33428613|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33646313|PMID:33804961|PMID:33842585|PMID:33891299|PMID:33918338|PMID:33964450|PMID:33978741|PMID:34008015|PMID:34046351|PMID:34072659|PMID:34101484|PMID:34235180|PMID:34399810|PMID:34490083|PMID:34567246|PMID:34645131|PMID:34657373|PMID:34680387|PMID:34906479|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35535697|PMID:35731312|PMID:35736817|PMID:35918668|PMID:36169650|PMID:36243179|PMID:36329109|PMID:36988593|PMID:36998040|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8705994|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9150172|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1059 intellectual disability ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:10969800|PMID:18182994|PMID:20104584|PMID:21895635|PMID:22711857|PMID:22762150|PMID:23569316|PMID:24156927|PMID:24312913|PMID:24764757|PMID:25741868|PMID:26467025|PMID:27616075|PMID:28127413|PMID:28492532|PMID:28767289|PMID:28888541|PMID:28985766|PMID:29446198|PMID:29625052|PMID:29922827|PMID:30257646|PMID:32885271|PMID:33087929|PMID:33471991|PMID:33758026|PMID:34399810|PMID:34657373|PMID:35264596 8999503 Brca2 BRCA2 DNA repair associated gene DOID:11054 urinary bladder cancer ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:11056688|PMID:11802209|PMID:12601471|PMID:12673801|PMID:12938098|PMID:16030099|PMID:16140926|PMID:16528604|PMID:17011978|PMID:17319787|PMID:17351952|PMID:17576681|PMID:17761984|PMID:17924331|PMID:18097605|PMID:18424508|PMID:18489799|PMID:18593900|PMID:18607349|PMID:19043619|PMID:19200354|PMID:19353265|PMID:19491284|PMID:19563646|PMID:19620486|PMID:20104584|PMID:21063910|PMID:21120943|PMID:21769658|PMID:21939546|PMID:21990134|PMID:22366370|PMID:22505045|PMID:22678057|PMID:22711857|PMID:22762150|PMID:23035815|PMID:23199084|PMID:23469205|PMID:23531862|PMID:23633455|PMID:23983145|PMID:24010542|PMID:24033266|PMID:24212087|PMID:24323938|PMID:24333842|PMID:24549055|PMID:24884479|PMID:25066507|PMID:25146914|PMID:25371446|PMID:25525159|PMID:25628955|PMID:25652403|PMID:25741868|PMID:25786579|PMID:26014432|PMID:26207792|PMID:26295337|PMID:26467025|PMID:26564481|PMID:26577449|PMID:26681312|PMID:26681682|PMID:2673801|PMID:27060066|PMID:27257965|PMID:27616075|PMID:27767231|PMID:28185119|PMID:28283652|PMID:28492532|PMID:28664506|PMID:28724667|PMID:28888541|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29446198|PMID:29470806|PMID:29625052|PMID:29707112|PMID:29774201|PMID:29907814|PMID:29988080|PMID:30101128|PMID:30287823|PMID:30623411|PMID:31131967|PMID:31512090|PMID:32058061|PMID:32295079|PMID:32438681|PMID:32599251|PMID:32623391|PMID:32658311|PMID:32806537|PMID:32846166|PMID:33471991|PMID:33643918|PMID:33804961|PMID:34377931|PMID:34597585|PMID:35220195|PMID:35264596|PMID:36988593|PMID:8673091|PMID:8896551|PMID:9150172|PMID:9536098 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1107 esophageal carcinoma ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:17972177|PMID:18431501|PMID:18627636|PMID:18779604|PMID:21120943|PMID:21218378|PMID:21523855|PMID:22126563|PMID:22293751|PMID:22486713|PMID:23555315|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28222693|PMID:28492532|PMID:30702160|PMID:31131967|PMID:32467295|PMID:33471991|PMID:35464868 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1148 polydactyly ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:20104584|PMID:25236687|PMID:25741868|PMID:26295337|PMID:26467025|PMID:28281021|PMID:28492532|PMID:29446198|PMID:30630528|PMID:34196900 8999503 Brca2 BRCA2 DNA repair associated gene DOID:11994 atrophy of testis ISO RGD:2219 D RGD:9068941 20210219 RGD PMID:12754522|REF_RGD_ID:727990 8999503 Brca2 BRCA2 DNA repair associated gene DOID:13636 Fanconi anemia ISO RGD:736254 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11030417|PMID:11185744|PMID:12491487|PMID:12955716|PMID:12960223|PMID:14670928|PMID:15026808|PMID:15070707|PMID:15635067|PMID:15645491|PMID:15876480|PMID:16825431|PMID:17924331|PMID:17972177|PMID:18284688|PMID:18431501|PMID:18627636|PMID:18779604|PMID:19043619|PMID:20104584|PMID:20127978|PMID:20927582|PMID:21120943|PMID:21218378|PMID:21523855|PMID:21548014|PMID:21702907|PMID:21719596|PMID:21990134|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22228431|PMID:22293751|PMID:22486713|PMID:22874498|PMID:23555315|PMID:23704879|PMID:23893897|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26689913|PMID:26834852|PMID:26920070|PMID:27376475|PMID:28222693|PMID:28492532|PMID:28831036|PMID:29310832|PMID:29394989|PMID:29446198|PMID:29470806|PMID:29753700|PMID:29884841|PMID:30254663|PMID:31131967|PMID:31911673|PMID:32398771|PMID:33273034|PMID:33471991|PMID:35464868|PMID:35736817|PMID:36329109 8999503 Brca2 BRCA2 DNA repair associated gene DOID:13636 Fanconi anemia ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:11030417|PMID:11185744|PMID:12491487|PMID:12955716|PMID:12960223|PMID:14670928|PMID:15026808|PMID:15070707|PMID:15635067|PMID:15645491|PMID:15876480|PMID:16825431|PMID:17924331|PMID:17972177|PMID:18284688|PMID:18431501|PMID:18627636|PMID:18779604|PMID:19043619|PMID:19620486|PMID:20104584|PMID:20127978|PMID:20927582|PMID:21120943|PMID:21218378|PMID:21523855|PMID:21548014|PMID:21702907|PMID:21719596|PMID:21990134|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22228431|PMID:22293751|PMID:22486713|PMID:22874498|PMID:23555315|PMID:23704879|PMID:23893897|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26689913|PMID:26834852|PMID:26920070|PMID:27376475|PMID:28222693|PMID:28492532|PMID:28831036|PMID:29310832|PMID:29394989|PMID:29446198|PMID:29470806|PMID:29625052|PMID:29753700|PMID:29884841|PMID:30254663|PMID:30702160|PMID:31090900|PMID:31131967|PMID:31911673|PMID:32398771|PMID:32467295|PMID:32719484|PMID:33087929|PMID:33273034|PMID:33471991|PMID:35464868|PMID:35736817|PMID:36329109|PMID:36451132 8999503 Brca2 BRCA2 DNA repair associated gene DOID:13636 Fanconi anemia susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutation PMID:12065746|REF_RGD_ID:734658 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1380 endometrial cancer ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:deletion, frameshift mutation PMID:10451700|REF_RGD_ID:2296027 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1520 colon carcinoma ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:11030418|PMID:12491487|PMID:15744044|PMID:15937982|PMID:15983021|PMID:16758124|PMID:20167696|PMID:21523855|PMID:22034289|PMID:24504028|PMID:24728327|PMID:24814045|PMID:25058500|PMID:25348012|PMID:25503501|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27165003|PMID:28223274|PMID:28492532|PMID:28814288|PMID:29061375|PMID:29394989|PMID:29849630|PMID:29881398|PMID:29884841|PMID:30055349|PMID:30254663|PMID:30287823|PMID:30374176|PMID:30883759|PMID:32123317|PMID:33233347|PMID:33471991|PMID:33609447|PMID:34597585|PMID:35736817 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:7240710 20240320 OMIM 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18097605|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31447099|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31954625|PMID:31957001|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32380732|PMID:32393813|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32885271|PMID:32918181|PMID:32939053|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34242281|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31954625|PMID:31957001|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32380732|PMID:32393813|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32885271|PMID:32918181|PMID:32939053|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34242281|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32098980|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32853339|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32939053|PMID:33054725|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33558524 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34178674|PMID:34242281|PMID:34503154|PMID:35464868|PMID:35535697|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593120|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24771903|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25802882|PMID:25838448|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25919761|PMID:25925381|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26264438|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12815053|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17018160|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593120|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24771903|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25802882|PMID:25838448|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25919761|PMID:25925381|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26264438|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28377418|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28502252|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591191|PMID:28591715|PMID:28604730|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29136510|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30672594|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31069257|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31161121|PMID:31173646|PMID:31174203|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32002120|PMID:32039725|PMID:32059136|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32206145|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32853339|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:33054725|PMID:33067490|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34242281|PMID:34309133|PMID:34503154|PMID:34597585|PMID:34645131|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34597585|PMID:34645131|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35263119|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:36329109|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35736817|PMID:35753294|PMID:36329109|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35039564|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35736817|PMID:35753294|PMID:36329109|PMID:36367610|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35039564|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35736817|PMID:35753294|PMID:36329109|PMID:36367610|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24285729|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33804961|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34309133|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34503154|PMID:34541275|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657373|PMID:34680878|PMID:34717758|PMID:34906479|PMID:35039564|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35535697|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35736817|PMID:35753294|PMID:35918668|PMID:35979650|PMID:36243179|PMID:36329109|PMID:36367610|PMID:36451132|PMID:36988593|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10570174|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12048272|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1446381|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17574839|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19574032|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24285729|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26455428|PMID:26467025 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29262651|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736435|PMID:30742731 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1612 breast cancer ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33804961|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34452747|PMID:34503154|PMID:34541275|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680387|PMID:34680878|PMID:34700141|PMID:34717758|PMID:34906479|PMID:35039564|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35309086|PMID:35402282|PMID:35411189|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35535697|PMID:35547873|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35711920|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36119527|PMID:36243179|PMID:36329109|PMID:36359225|PMID:36367610|PMID:36451132|PMID:36977404|PMID:36988593|PMID:37922907|PMID:668580|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9192668|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1614 male breast cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, male PMID:10464631|PMID:17924331|PMID:21952622|PMID:21990134|PMID:22771033|PMID:24323938|PMID:25682074|PMID:25741868|PMID:26689913|PMID:28492532|PMID:29580235|PMID:9654203 8999503 Brca2 BRCA2 DNA repair associated gene DOID:162 cancer ISO RGD:2219 D RGD:9068941 20210430 RGD PMID:16964288|REF_RGD_ID:1599505 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1702 ichthyosis vulgaris ISO RGD:736254 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: FLG-related disorders PMID:17688236|PMID:19654294|PMID:20104584|PMID:20858050|PMID:21120943|PMID:21709188|PMID:23569316|PMID:24728189|PMID:25136594|PMID:25525159|PMID:25741868|PMID:26295337|PMID:26467025|PMID:26681312|PMID:28492532|PMID:29446198|PMID:29487695|PMID:30287823|PMID:33087929|PMID:33471991 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:7240710 20240320 OMIM 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29907814 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33608381|PMID:33646313|PMID:33918338|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12872265|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29681614 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:29752822|PMID:29753700|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33608381|PMID:33646313|PMID:33918338|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:29752822|PMID:29753700|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33608381|PMID:33646313|PMID:33918338|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:36329109|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12373604|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12872265|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21918853|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:23767878|PMID:23942203|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25236687|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26657402|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28243543|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32426482|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32853339|PMID:32875559|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33646313|PMID:33773534|PMID:33918338|PMID:34008015|PMID:34196900|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:35753294|PMID:36329109|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12373604|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12872265|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17574839|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21918853|PMID:21952622|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23233716|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:23767878|PMID:23942203|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:251866|PMID:25186627|PMID:25236687|PMID:25330149|PMID:25348012|PMID:25382762|PMID:25428789|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26219728|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26657402|PMID:26659639|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:278235|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28243543|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28715532|PMID:28724667|PMID:28726808 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1793 pancreatic cancer ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31076742|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31589614|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32426482|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32846166|PMID:32853339|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33309985|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33563768|PMID:33608381|PMID:33646313|PMID:33773534|PMID:33842585|PMID:33918338|PMID:34008015|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34308366|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34572941|PMID:34657373|PMID:34680878|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35464868|PMID:35535697|PMID:35753294|PMID:35918668|PMID:36169650|PMID:36243179|PMID:36329109|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas PMID:15145354|PMID:22762150|PMID:25741868|PMID:29446198 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1909 melanoma ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Melanoma PMID:25741868|PMID:28492532|PMID:31911673 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1909 melanoma susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.N991D(human) PMID:18024013|REF_RGD_ID:9068469 8999503 Brca2 BRCA2 DNA repair associated gene DOID:1969 cerebral palsy ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:1446381|PMID:17576681|PMID:19530235|PMID:21548014|PMID:22632462|PMID:23613520|PMID:25525159|PMID:25741868|PMID:26064523|PMID:26467025|PMID:27376475|PMID:28492532|PMID:668580|PMID:9536098 8999503 Brca2 BRCA2 DNA repair associated gene DOID:2154 nephroblastoma ISO RGD:736254 D RGD:7240710 20240320 OMIM 8999503 Brca2 BRCA2 DNA repair associated gene DOID:2154 nephroblastoma ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20373018|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21918853|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23233716|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:23942203|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25236687|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25884701|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26425718|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26580448|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26786923|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28715532|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32846166|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33008098|PMID:33087929|PMID:33113089 8999503 Brca2 BRCA2 DNA repair associated gene DOID:2154 nephroblastoma ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33773534|PMID:33918338|PMID:34008015|PMID:34196900|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34657373|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35535697|PMID:35753294|PMID:36329109|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 8999503 Brca2 BRCA2 DNA repair associated gene DOID:2154 nephroblastoma ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17574839|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20373018|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21918853|PMID:21952622|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23233716|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:23942203|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:251866|PMID:25186627|PMID:25236687|PMID:25330149|PMID:25348012|PMID:25382762|PMID:25428789|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26425718|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26580448|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31451522|PMID:31589614|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32426482|PMID:32438681|PMID:32467295 8999503 Brca2 BRCA2 DNA repair associated gene DOID:2154 nephroblastoma ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32846166|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33008098|PMID:33087929|PMID:33113089|PMID:33309985|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33773534|PMID:33918338|PMID:34008015|PMID:34196900|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34657373|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35535697|PMID:35753294|PMID:36329109|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 8999503 Brca2 BRCA2 DNA repair associated gene DOID:2234 focal epilepsy ISO RGD:736254 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:10923033|PMID:18779604|PMID:20104584|PMID:25741868|PMID:26467025|PMID:27425403|PMID:27741520|PMID:28087643|PMID:28492532|PMID:29161300|PMID:29446198|PMID:29907814|PMID:31446535|PMID:34287479 8999503 Brca2 BRCA2 DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11179017|PMID:14973102|PMID:15070707|PMID:15145354|PMID:15340362|PMID:16168118|PMID:17899372|PMID:17972171|PMID:18042939|PMID:18779604|PMID:19043619|PMID:19499246|PMID:20104584|PMID:20736950|PMID:21120943|PMID:21218378|PMID:22126563|PMID:24055113|PMID:24156927|PMID:24470074|PMID:24728327|PMID:25348012|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25782689|PMID:25980754|PMID:26221963|PMID:26295337|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26757417|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27741520|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28351343|PMID:28419251|PMID:28492532|PMID:28664449|PMID:28724667|PMID:28993434|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29681614|PMID:29752822|PMID:29907814|PMID:29909963|PMID:29988080|PMID:30078507|PMID:30287823|PMID:30415210|PMID:30702160|PMID:31174498|PMID:31248605|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32101877|PMID:32190957|PMID:32318955|PMID:32444794|PMID:32521533|PMID:32879886|PMID:32885271|PMID:32984025|PMID:33078592|PMID:33309985|PMID:33428613|PMID:33461583|PMID:33471991 8999503 Brca2 BRCA2 DNA repair associated gene DOID:2394 ovarian cancer ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11179017|PMID:11597388|PMID:12215251|PMID:12474142|PMID:12684407|PMID:14973102|PMID:15070707|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15340362|PMID:15365993|PMID:16168118|PMID:16261408|PMID:17657584|PMID:17899372|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18607349|PMID:18627636|PMID:18779604|PMID:18824701|PMID:18844490|PMID:19016756|PMID:19043619|PMID:19499246|PMID:19656164|PMID:20104584|PMID:20215541|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21218378|PMID:21520273|PMID:21671020|PMID:21702907|PMID:21952622|PMID:22126563|PMID:22366370|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22703879|PMID:22921312|PMID:23108138|PMID:23231788|PMID:23469205|PMID:23729402|PMID:23983145|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24323938|PMID:24470074|PMID:24489791|PMID:24728327|PMID:24817641|PMID:24884479|PMID:25151137|PMID:25348012|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25927356|PMID:25980754|PMID:26067864|PMID:26187060|PMID:26219728|PMID:26221963|PMID:26295337|PMID:26332594|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26848529|PMID:26852015|PMID:27124784|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27741520|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28492532|PMID:28664449|PMID:28724667|PMID:28831036|PMID:28961279|PMID:28993434|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29907814|PMID:29909963|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30286154|PMID:30287823|PMID:30415210|PMID:30613976|PMID:30702160|PMID:30720243|PMID:30787465|PMID:30982232|PMID:31131967|PMID:31143303|PMID:31174498|PMID:31248605|PMID:31447099|PMID:31721094|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31853058|PMID:31911673|PMID:31957001|PMID:32029870|PMID:32068069|PMID:32101877|PMID:32190957|PMID:32211327|PMID:32318955|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32623769|PMID:32658311|PMID:32879886|PMID:32885271|PMID:32984025|PMID:33078592|PMID:33087929|PMID:33309985|PMID:33314489|PMID:33428613|PMID:33461583|PMID:3347199|PMID:33471991|PMID:33563768|PMID:34399810|PMID:35171259|PMID:35264596|PMID:35864222|PMID:35918668|PMID:36000185|PMID:36329109|PMID:8840963|PMID:9150172|PMID:9579822|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:2394 ovarian cancer disease_progression ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:deletion: :6174delT PMID:18165636|REF_RGD_ID:2289046 8999503 Brca2 BRCA2 DNA repair associated gene DOID:2394 ovarian cancer no_association ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.N372H (rs144848)(human) PMID:18431743|REF_RGD_ID:9068468 8999503 Brca2 BRCA2 DNA repair associated gene DOID:2871 endometrial carcinoma ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:10227398|PMID:10417300|PMID:10433620|PMID:10464624|PMID:10570174|PMID:10595255|PMID:10733239|PMID:10739756|PMID:11267991|PMID:11359068|PMID:11466700|PMID:11597388|PMID:11802209|PMID:11896095|PMID:11920643|PMID:11938448|PMID:12097257|PMID:12402332|PMID:12473589|PMID:12569143|PMID:12672316|PMID:12698193|PMID:12955716|PMID:14559878|PMID:14576434|PMID:15340362|PMID:15695382|PMID:15994883|PMID:16683254|PMID:16825431|PMID:17148771|PMID:17591843|PMID:17850627|PMID:18607349|PMID:19188187|PMID:19530235|PMID:19949876|PMID:20104584|PMID:20216074|PMID:20301425|PMID:20736950|PMID:20859677|PMID:20887823|PMID:21324516|PMID:21614564|PMID:21720365|PMID:22006311|PMID:22009639|PMID:22430266|PMID:22476429|PMID:22703879|PMID:22923021|PMID:23199084|PMID:23341105|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23633455|PMID:23658460|PMID:24033266|PMID:24156927|PMID:24448499|PMID:24504028|PMID:24728189|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25085752|PMID:25348012|PMID:25395318|PMID:25741868|PMID:25980754|PMID:26026974|PMID:26041759|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26295337|PMID:26440929|PMID:26467025|PMID:26556299|PMID:26577449|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26867194|PMID:27153395|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27831900|PMID:27836010|PMID:27974047|PMID:27989354|PMID:28492532|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28873162|PMID:28944232|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29288066|PMID:29321669|PMID:29335925|PMID:29339979|PMID:29368341|PMID:29371908|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30267214|PMID:30274973|PMID:30322717|PMID:30489631|PMID:30555256|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30787465|PMID:30875412|PMID:30883245|PMID:31076742|PMID:31090900|PMID:31263054|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31825140|PMID:31911673|PMID:31948886|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32438681|PMID:32719484|PMID:32853339|PMID:32885271|PMID:32918181|PMID:33077847|PMID:33087929|PMID:33471991|PMID:33654310|PMID:34308366|PMID:34326862|PMID:34399810|PMID:35264596|PMID:35464868|PMID:35908255|PMID:8075631|PMID:8524414|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9585608|PMID:9585613|PMID:9758598 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3007 breast ductal carcinoma ISO RGD:736254 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma PMID:11062481|PMID:11927503|PMID:14555511|PMID:15235023|PMID:17767707|PMID:20135345|PMID:22703879|PMID:24033266|PMID:24323938|PMID:24728327|PMID:25741868|PMID:28492532|PMID:36329109 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3008 invasive ductal carcinoma ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast PMID:14973102|PMID:15145354|PMID:17899372|PMID:18627636|PMID:18779604|PMID:19043619|PMID:19499246|PMID:21218378|PMID:22126563|PMID:22476429|PMID:24470074|PMID:24728327|PMID:25741868|PMID:25782689|PMID:25980754|PMID:26221963|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26757417|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28351343|PMID:28419251|PMID:28492532|PMID:28993434|PMID:29192238|PMID:29240602|PMID:29394989|PMID:29681614|PMID:29752822|PMID:29988080|PMID:30287823|PMID:30415210|PMID:30702160|PMID:31825140|PMID:31837001|PMID:31911673|PMID:32444794|PMID:32467295|PMID:32879886|PMID:33428613|PMID:33471991|PMID:33563768 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:7240710 20240320 OMIM 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11400546|PMID:11802209|PMID:12373604|PMID:12655567|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15070707|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16168118|PMID:16168123|PMID:16389418|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:17063270|PMID:17148771|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18465347|PMID:18703817|PMID:19016756|PMID:19491284|PMID:19654294|PMID:19863560|PMID:19949876|PMID:19967274|PMID:20104584|PMID:20167696|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21709188|PMID:21913181|PMID:22006311|PMID:22009639|PMID:22217648|PMID:22535016|PMID:22666503|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23569316|PMID:23621881|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24156927|PMID:24312913|PMID:24504028|PMID:24556621|PMID:24728189|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28008555|PMID:28039656|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28915716|PMID:28918466|PMID:28973083|PMID:29088781|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29753700|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30606148|PMID:31209999|PMID:32295079|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11400546|PMID:11802209|PMID:12065746|PMID:12373604|PMID:12655567|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15070707|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16389418|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18465347|PMID:18703817|PMID:19016756|PMID:19491284|PMID:19654294|PMID:19863560|PMID:19967274|PMID:20104584|PMID:20167696|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21709188|PMID:21913181|PMID:22006311|PMID:22009639|PMID:22217648|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23569316|PMID:23621881|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28915716|PMID:28918466|PMID:28973083|PMID:29088781|PMID:29161300|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29753700|PMID:29907814|PMID:29909963|PMID:30078507|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30606148|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31331294|PMID:31837001|PMID:31957001|PMID:32098980|PMID:32101877|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32521533|PMID:32875559|PMID:32885271|PMID:33461583|PMID:33471991|PMID:33478551|PMID:34567246|PMID:35535697|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20373018|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21918853|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23233716|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:23942203|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25236687|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25884701|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26425718|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26580448|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26786923|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28715532|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32846166|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33008098|PMID:33087929|PMID:33113089 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33773534|PMID:33918338|PMID:34008015|PMID:34196900|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34657373|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35535697|PMID:35753294|PMID:36329109|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17574839|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20373018|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21918853|PMID:21952622|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23233716|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:23942203|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:251866|PMID:25186627|PMID:25236687|PMID:25330149|PMID:25348012|PMID:25382762|PMID:25428789|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26425718|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26580448|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31451522|PMID:31589614|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32426482|PMID:32438681|PMID:32467295 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3070 high grade glioma ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 3 PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32846166|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33008098|PMID:33087929|PMID:33113089|PMID:33309985|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33773534|PMID:33918338|PMID:34008015|PMID:34196900|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34657373|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35535697|PMID:35753294|PMID:36329109|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3168 squamous cell neoplasm ISO RGD:736254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3247 rhabdomyosarcoma ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10188893|PMID:10790213|PMID:11802209|PMID:11920621|PMID:12442265|PMID:12774040|PMID:15024741|PMID:15645491|PMID:15800615|PMID:16234499|PMID:16683254|PMID:16912212|PMID:17574839|PMID:17688236|PMID:18465347|PMID:18489799|PMID:19016756|PMID:19563646|PMID:19620486|PMID:20104584|PMID:21318380|PMID:21324516|PMID:21465317|PMID:21520333|PMID:21643751|PMID:21702907|PMID:21719596|PMID:21952622|PMID:22006311|PMID:22752604|PMID:22762150|PMID:22798144|PMID:23199084|PMID:23479189|PMID:23531862|PMID:24033266|PMID:24156927|PMID:24249303|PMID:24259538|PMID:24333842|PMID:24504028|PMID:24528374|PMID:24578176|PMID:24728189|PMID:24814045|PMID:25186627|PMID:25525159|PMID:25741868|PMID:25863477|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26360800|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787237|PMID:27062684|PMID:27153395|PMID:27157322|PMID:27836010|PMID:28176296|PMID:28324225|PMID:28492532|PMID:28724667|PMID:28831036|PMID:28993434|PMID:29084914|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29368341|PMID:29446198|PMID:29489754|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29907814|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30548481|PMID:30612635|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:31214711|PMID:31263571|PMID:31360904|PMID:31447099|PMID:31589614|PMID:31825140|PMID:32164353|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32438681|PMID:32719484|PMID:32853339|PMID:32885271|PMID:33087929|PMID:33372952|PMID:33471991|PMID:33599307|PMID:34072659|PMID:34399810|PMID:34657373|PMID:34680387|PMID:35205366|PMID:36988593|PMID:8589730 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3302 chordoma ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Chordoma PMID:10923033|PMID:11304778|PMID:11873550|PMID:11920621|PMID:12100744|PMID:12161607|PMID:12228710|PMID:12442265|PMID:12442273|PMID:12774040|PMID:15172753|PMID:15645491|PMID:15800311|PMID:15944772|PMID:16205630|PMID:16683254|PMID:17018160|PMID:17924331|PMID:17997147|PMID:18256760|PMID:18451181|PMID:186727|PMID:19043619|PMID:19200354|PMID:19563646|PMID:19656415|PMID:20104584|PMID:21120943|PMID:21520333|PMID:21638052|PMID:21702907|PMID:21719596|PMID:21952622|PMID:21990134|PMID:22194698|PMID:22366370|PMID:22476429|PMID:22703879|PMID:22798144|PMID:22811390|PMID:23108138|PMID:24033266|PMID:24212087|PMID:24249303|PMID:24259538|PMID:24323938|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24556621|PMID:24728189|PMID:24728327|PMID:25447315|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25863477|PMID:25948282|PMID:26109977|PMID:26145171|PMID:26287763|PMID:26467025|PMID:27062684|PMID:27153395|PMID:27376475|PMID:27616075|PMID:28492532|PMID:29348823|PMID:29394989|PMID:29446198|PMID:29785135|PMID:29884841|PMID:29988080|PMID:30032850|PMID:30287823|PMID:30309222|PMID:30447919|PMID:30702160|PMID:31060523|PMID:31131967|PMID:31214711|PMID:31409081|PMID:31742824|PMID:31843900|PMID:31911673|PMID:32885271|PMID:33293522|PMID:33372952|PMID:33471991|PMID:33609447|PMID:34178674|PMID:34350294|PMID:34970085|PMID:35736817|PMID:35762214|PMID:36721989|PMID:36988593|PMID:37922907 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3347 osteosarcoma ISO RGD:2219 D RGD:9068941 20200609 RGD DNA:nonsense mutation PMID:16964288|REF_RGD_ID:1599505 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3457 invasive lobular carcinoma ISO RGD:736254 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Invasive lobular breast carcinoma PMID:14973102|PMID:25741868|PMID:27257965|PMID:28222693|PMID:28492532|PMID:28664449|PMID:30287823|PMID:30702160|PMID:31131967|PMID:31911673|PMID:32467295|PMID:33471991 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3459 breast carcinoma ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:1|PMID:10449599|PMID:10550133|PMID:10638982|PMID:10660329|PMID:10699917|PMID:10790213|PMID:10807692|PMID:10978364|PMID:11044354|PMID:11062481|PMID:11179017|PMID:11556836|PMID:11597388|PMID:11781689|PMID:11802209|PMID:11897832|PMID:11927503|PMID:12100744|PMID:12112655|PMID:12114473|PMID:12142080|PMID:12655560|PMID:14555511|PMID:15010701|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15217494|PMID:15235023|PMID:15571962|PMID:15689453|PMID:15887246|PMID:16168118|PMID:16170354|PMID:16199547|PMID:16418514|PMID:16683254|PMID:16768547|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17148771|PMID:17515903|PMID:17565157|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17767707|PMID:17826769|PMID:17924331|PMID:17997147|PMID:18042939|PMID:18375895|PMID:18393245|PMID:18465347|PMID:18489799|PMID:18593900|PMID:18597679|PMID:18607349|PMID:18821011|PMID:18824701|PMID:19016756|PMID:19478387|PMID:19620486|PMID:19656164|PMID:20104584|PMID:20135345|PMID:20373018|PMID:20406929|PMID:20589654|PMID:20960228|PMID:21138478|PMID:21156238|PMID:21232165|PMID:21324516|PMID:21520333|PMID:21548014|PMID:21643751|PMID:21913181|PMID:219131812|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23035815|PMID:23199084|PMID:23397983|PMID:23451180|PMID:23479189|PMID:23683081|PMID:23857704|PMID:23877192|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24156927|PMID:24249303|PMID:24323938|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24916970|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25366421|PMID:25382762|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25682074|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25940717|PMID:25948282|PMID:26026974|PMID:26183948|PMID:26187060|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26848151|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27153395|PMID:27165220|PMID:27257965|PMID:27271530|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27478808|PMID:27537391|PMID:27741520|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28135145|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28692638|PMID:28724667|PMID:28726808|PMID:28825054|PMID:28831036|PMID:28947987|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360550|PMID:29433453|PMID:29446198|PMID:29483665|PMID:29489754|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29758562|PMID:29907814|PMID:29945567|PMID:30078507|PMID:30093976|PMID:30257646|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30441849|PMID:30548481|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30875412|PMID:31090900|PMID:31143373|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31447099|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31875949|PMID:31957001|PMID:32072338|PMID:32164353|PMID:32295079|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32393398|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32776218|PMID:32846166|PMID:32853339|PMID:32885271|PMID:32959997|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33646313|PMID:33842585|PMID:33891299|PMID:33918338|PMID:34072659|PMID:34399810|PMID:34445631|PMID:34637943|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34949660|PMID:35008403|PMID:35261632 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3459 breast carcinoma ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:35264596|PMID:35710434|PMID:36169650|PMID:36243179|PMID:36329109|PMID:36988593|PMID:8589730|PMID:8665505|PMID:8673089|PMID:8706004|PMID:8988179|PMID:9042907|PMID:9150150|PMID:9150155|PMID:9150172|PMID:9536098|PMID:9585613|PMID:9634522|PMID:9643283|PMID:9667259|PMID:9766673|PMID:9802270|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:nonsense mutation: :p.K3326X (human) PMID:21279724|REF_RGD_ID:11344913 8999503 Brca2 BRCA2 DNA repair associated gene DOID:3883 Lynch syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma PMID:25741868|PMID:28492532 8999503 Brca2 BRCA2 DNA repair associated gene DOID:4905 pancreatic carcinoma ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas PMID:10699917|PMID:10923033|PMID:11039575|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11802209|PMID:11938448|PMID:12181777|PMID:12204006|PMID:14559878|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15290653|PMID:15382066|PMID:15548363|PMID:15689453|PMID:15695382|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16905680|PMID:16978908|PMID:17100994|PMID:17262179|PMID:17576681|PMID:18042939|PMID:18182994|PMID:18451181|PMID:18489799|PMID:18497862|PMID:18607349|PMID:18819001|PMID:18951461|PMID:19043619|PMID:19052777|PMID:19491284|PMID:19499246|PMID:19656164|PMID:19796187|PMID:19912264|PMID:20104584|PMID:20694749|PMID:21232165|PMID:21324516|PMID:21465317|PMID:21497495|PMID:21548014|PMID:21559243|PMID:21702907|PMID:21735045|PMID:21952622|PMID:21990134|PMID:22144684|PMID:22217648|PMID:22382806|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22682623|PMID:22729890|PMID:22762150|PMID:22798144|PMID:22866093|PMID:23108138|PMID:23199084|PMID:23451180|PMID:23569316|PMID:23683081|PMID:23961350|PMID:23977390|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24156927|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24728189|PMID:25072261|PMID:25085752|PMID:25146914|PMID:25381700|PMID:25382762|PMID:25479140|PMID:25525159|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:26014432|PMID:26026974|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26541979|PMID:26681312|PMID:26709275|PMID:26787237|PMID:26834852|PMID:27153395|PMID:27741520|PMID:27767231|PMID:28008555|PMID:28111427|PMID:28283652|PMID:28324225|PMID:28349240|PMID:28423363|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:29020732|PMID:29084914|PMID:29176636|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29433453|PMID:29446198|PMID:29625052|PMID:29758562|PMID:29785153|PMID:29907814|PMID:29988080|PMID:30257646|PMID:30262796|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30609409|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:31131967|PMID:31263054|PMID:31589614|PMID:31853058|PMID:32022259|PMID:32206145|PMID:32255556|PMID:32295079|PMID:32365798|PMID:32444794|PMID:32489267|PMID:32606146|PMID:32719484|PMID:32850417|PMID:32853339|PMID:33087929|PMID:33471991|PMID:33606809|PMID:33609447|PMID:33964450|PMID:34399810|PMID:36169650|PMID:36329109|PMID:36988593|PMID:36998040|PMID:8665505|PMID:9150150|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5041 esophageal cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:25741868|PMID:28492532|PMID:31911673 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5223 infertility ISO RGD:2219 D RGD:9068941 20200609 RGD PMID:12754522|REF_RGD_ID:727990 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:7240710 20240320 OMIM 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32072338|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34350294|PMID:34399810|PMID:34749799|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17640379|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11512557|PMID:11556836|PMID:11595708|PMID:11597388|PMID:116985367|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:121769658|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20736950|PMID:20804917|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27603373|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34350294|PMID:34399810|PMID:34749799|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34749799|PMID:35150867|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:35150867|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28595730|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28595730|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29767749|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31957001|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32133419|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33087175|PMID:33113089|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33672545|PMID:33726785|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:35150867|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29174094|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35979650|PMID:35980532|PMID:36200007|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36329109|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35727495|PMID:35731312 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36232564|PMID:36290365|PMID:36329109|PMID:36367610|PMID:36605468|PMID:36977404|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387|PMID:29625052 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35150867|PMID:35171259|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35693198 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36232564|PMID:36290365|PMID:36329109|PMID:36367610|PMID:36605468|PMID:36977404|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11941481|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35150867|PMID:35171259|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:35666082|PMID:35693198|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36232564|PMID:36290365|PMID:36329109|PMID:36367610|PMID:36605468|PMID:36977404|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35150867|PMID:35171259|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35456488 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:35464868|PMID:35472165|PMID:35535697|PMID:35641219|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36232564|PMID:36259290|PMID:36290365|PMID:36315513|PMID:36329109|PMID:36367610|PMID:36551643|PMID:36605468|PMID:36977404|PMID:36988593|PMID:37002487|PMID:37067535|PMID:37415649|PMID:37731132|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35070997|PMID:35150867|PMID:35171259|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35641219|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35710434|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36139606|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36315513|PMID:36329109|PMID:36367610|PMID:36551643|PMID:36605468|PMID:36977404|PMID:36988593|PMID:37002487|PMID:37067535|PMID:37116400|PMID:37415649|PMID:37731132|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29174094|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35641219|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35710434|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36139606|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36315513|PMID:36329109|PMID:36367610|PMID:36551643|PMID:36605468|PMID:36977404|PMID:36988593|PMID:37002487|PMID:37067535|PMID:37116400|PMID:37149759|PMID:37415649|PMID:37731132|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11948477|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31887429|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32255556|PMID:32256484|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34465320|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:34570441|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34970085|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35150867|PMID:35171259|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35325018|PMID:35353237|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35495172|PMID:35535697|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35710434|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35858847|PMID:35864222|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36000185|PMID:36011273|PMID:36139606|PMID:36140756|PMID:36169650|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36451132|PMID:36551643|PMID:36605468|PMID:36707518|PMID:36721989|PMID:36898365|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36998040|PMID:37002487|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37239058|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37731132|PMID:3983145|PMID:4055113|PMID:4301060|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16768547|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17216544|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17574839|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:1772447|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:184056|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:186727|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19052777|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19574032|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11781689|PMID:1178672|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11948477|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114473|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12519945|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12747142|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:1446381|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20804917|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:218118|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23877192|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23977390|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24141157|PMID:24145998 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:251866|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:278235|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31887429|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:326144|PMID:32614418|PMID:32623391|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33804961|PMID:33808557 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34100114|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:35008403|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35190686|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35353237|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35411189|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35918668|PMID:35944511|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36000185|PMID:36011273|PMID:36095024|PMID:36098506|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36169650|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36446827|PMID:36451132|PMID:36537080|PMID:36551643|PMID:36605468|PMID:36627197|PMID:36707518|PMID:36721989|PMID:36785489|PMID:36881271|PMID:36898365|PMID:36922933|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:3723905|PMID:37239058|PMID:37277882|PMID:37335020|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37664050|PMID:37731132|PMID:37922907|PMID:3983145|PMID:4055113|PMID:4301060|PMID:668580|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5744 ovary serous adenocarcinoma ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma PMID:16793542|PMID:18704680|PMID:25741868 8999503 Brca2 BRCA2 DNA repair associated gene DOID:5750 endometrial serous adenocarcinoma susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:deletion: :6174delT PMID:16650962|REF_RGD_ID:2289045 8999503 Brca2 BRCA2 DNA repair associated gene DOID:6039 uveal melanoma susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22187320|REF_RGD_ID:9068467 8999503 Brca2 BRCA2 DNA repair associated gene DOID:630 genetic disease ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15131399|PMID:15382066|PMID:16905680|PMID:16912212|PMID:18703817|PMID:20104584|PMID:20694749|PMID:21324516|PMID:22430266|PMID:24033266|PMID:24156927|PMID:25256924|PMID:25381700|PMID:25741868|PMID:25884701|PMID:26014432|PMID:26295337|PMID:26467025|PMID:26681312|PMID:28492532|PMID:28767289|PMID:29084914|PMID:29339979|PMID:29446198|PMID:30322717|PMID:30609409|PMID:30720243|PMID:30787465|PMID:31911673|PMID:32255556|PMID:33087929|PMID:33471991|PMID:33850299|PMID:37664050 8999503 Brca2 BRCA2 DNA repair associated gene DOID:6364 migraine ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Migraine PMID:15070707|PMID:16030099|PMID:16758124|PMID:17020472|PMID:18783588|PMID:20104584|PMID:20960228|PMID:21232165|PMID:21553119|PMID:21918853|PMID:22430266|PMID:22460208|PMID:22923021|PMID:23479189|PMID:24033266|PMID:25741868|PMID:26026974|PMID:26295337|PMID:26350514|PMID:26467025|PMID:28127413|PMID:28184943|PMID:28477318|PMID:28492532|PMID:28503720|PMID:29084914|PMID:29446198|PMID:29560538|PMID:30274973|PMID:30322717|PMID:30720863|PMID:32427313|PMID:33471991|PMID:34290354|PMID:34449592|PMID:34645131|PMID:34933735 8999503 Brca2 BRCA2 DNA repair associated gene DOID:6741 bilateral breast cancer ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:25741868 8999503 Brca2 BRCA2 DNA repair associated gene DOID:687 hepatoblastoma ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:10717622|PMID:15937982|PMID:17826769|PMID:19941162|PMID:21120943|PMID:21769658|PMID:23056405|PMID:23893897|PMID:24884479|PMID:25085752|PMID:25348012|PMID:25741868|PMID:26467025|PMID:26933808|PMID:27741520|PMID:28492532|PMID:30212499|PMID:31131967|PMID:31911673|PMID:33471991|PMID:33643918|PMID:35039564|PMID:35495172|PMID:35980532|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:7141 prostate small cell carcinoma ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Metastatic Prostate Small Cell Carcinoma PMID:10660329|PMID:11597388|PMID:11802209|PMID:15024741|PMID:15689453|PMID:18393245|PMID:20104584|PMID:21952622|PMID:22009639|PMID:22144684|PMID:22535016|PMID:22666503|PMID:22798144|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26439132|PMID:26467025|PMID:27257965|PMID:27433846|PMID:27836010|PMID:28039656|PMID:28324225|PMID:28492532|PMID:28724667|PMID:28993434|PMID:29084914|PMID:29176636|PMID:29339979|PMID:29446198|PMID:30078507|PMID:30093976|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30702160|PMID:30720243|PMID:30787465|PMID:30875412|PMID:31214711|PMID:31263054|PMID:31447099|PMID:31742824|PMID:31825140|PMID:32295079|PMID:32318955|PMID:32341426|PMID:32467295|PMID:32710294|PMID:32853339|PMID:33471991|PMID:33608381|PMID:33918338|PMID:36988593 8999503 Brca2 BRCA2 DNA repair associated gene DOID:74 hematopoietic system disease ISO RGD:10247 D RGD:9068941 20200609 RGD PMID:16859999|REF_RGD_ID:11038791 8999503 Brca2 BRCA2 DNA repair associated gene DOID:769 neuroblastoma ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:16284991|PMID:19043619|PMID:20127978|PMID:21702907|PMID:22034289|PMID:22711857|PMID:24163242|PMID:25741868|PMID:26467025|PMID:26822237|PMID:28492532|PMID:29884841|PMID:30287823|PMID:31112341|PMID:31131967|PMID:31294896|PMID:31911673|PMID:33428613|PMID:33471991|PMID:33609447 8999503 Brca2 BRCA2 DNA repair associated gene DOID:8923 skin melanoma disease_progression ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:SNP: :rs206118, rs3752447, rs10492396 (human) PMID:25243787|REF_RGD_ID:11344896 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9000039 Spinal Cord Injuries ISO RGD:2219 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:21748659|REF_RGD_ID:10053608 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9000357 Male Breast Neoplasms susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutation PMID:18042939|REF_RGD_ID:2289043 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:736254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:10417300|PMID:10449599|PMID:10464624|PMID:10550133|PMID:10570174|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10733239|PMID:10739756|PMID:10790213|PMID:11149425|PMID:11179017|PMID:11389159|PMID:11466700|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11897832|PMID:12097290|PMID:12402332|PMID:12461697|PMID:12473589|PMID:12624152|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14732925|PMID:15010701|PMID:15024741|PMID:15070707|PMID:15340362|PMID:15689453|PMID:15695382|PMID:15744030|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16760289|PMID:16764716|PMID:16825431|PMID:17026620|PMID:17148771|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17688236|PMID:17924331|PMID:17972171|PMID:18042939|PMID:18284688|PMID:18393245|PMID:18439106|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18593900|PMID:18607349|PMID:18704680|PMID:18783588|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19530235|PMID:19574032|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19941162|PMID:19941167|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20216074|PMID:20301425|PMID:20608899|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21138478|PMID:21205087|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21520333|PMID:21643751|PMID:21709188|PMID:21913181|PMID:21952622|PMID:21990134|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23096105|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23940062|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24728189|PMID:24737347|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25927356|PMID:25940717|PMID:25980754|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26845104|PMID:26852130|PMID:26867194|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28152038|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28692638|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28944232|PMID:28947987|PMID:28973083|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29288066|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30489631|PMID:30548481|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30832263|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31360904|PMID:31396961|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31911673 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm PMID:31948886|PMID:31957001|PMID:32029870|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32846166|PMID:32853339|PMID:32885271|PMID:32959997|PMID:33077847|PMID:33087929|PMID:33287145|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33808557|PMID:33891299|PMID:33918338|PMID:34072659|PMID:34296289|PMID:34308366|PMID:34309133|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34657373|PMID:34680387|PMID:35264596|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8898735|PMID:9042909|PMID:9126738|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9192668|PMID:9536098|PMID:9585613|PMID:9758598 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9002762 Ovarian Neoplasms susceptibility ISO RGD:2219 D RGD:9068941 20200609 RGD PMID:16964288|REF_RGD_ID:1599505 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9003042 male breast carcinoma ISO RGD:736254 D RGD:8554872 20220913 ClinVar ClinVar Annotator: match by term: Male breast carcinoma PMID:10464631|PMID:17924331|PMID:21952622|PMID:21990134|PMID:22771033|PMID:24323938|PMID:25682074|PMID:25741868|PMID:26689913|PMID:28492532|PMID:29580235|PMID:9654203 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9005172 Lung Neoplasms ISO RGD:736254 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30760827 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34749799|PMID:35150867|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:35150867|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30204945 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:35886069|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20600922|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:35886069|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25974703|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35886069|PMID:35980532|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26833330|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35886069|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36290365|PMID:36329109|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22461402|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35150867|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35698740|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35886069|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36232564|PMID:36290365|PMID:36329109|PMID:36367610|PMID:36605468|PMID:36977404|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35150867|PMID:35171259|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35698740|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35886069|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36232564|PMID:36290365|PMID:36329109|PMID:36367610|PMID:36605468|PMID:36977404|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16324400|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16768547|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17574839|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:1772447|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:184056|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:186727|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19052777|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19574032|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20600922|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11754111|PMID:11781689|PMID:1178672|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11948477|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114473|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12519945|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:1446381|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20804917|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:218118|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22275995|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22438049|PMID:22460208|PMID:22461402|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23877192|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23977390|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24141157|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:251866|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25673166|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:278235|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31854063|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31887429|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:326144|PMID:32614418|PMID:32623391|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34302857|PMID:34308104 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:35008403|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35205643|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35353237|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35411189|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35918668|PMID:35944511|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36000185|PMID:36011273|PMID:36095024|PMID:36098506|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36169650|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36446827|PMID:36451132|PMID:36551643|PMID:36605468|PMID:36627197|PMID:36672847|PMID:36707518|PMID:36721989|PMID:36785489|PMID:36881271|PMID:36898365|PMID:36922933|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:3723905|PMID:37239058|PMID:37277882|PMID:37335020|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37664050|PMID:37731132|PMID:37922907|PMID:3983145|PMID:4055113|PMID:4301060|PMID:668580|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9192668|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008344 Invasive Breast Carcinoma ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Invasive breast carcinoma PMID:25741868|PMID:28492532|PMID:31825140|PMID:31911673|PMID:33471991 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:736254 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:11179017|PMID:11307153|PMID:11597388|PMID:15070707|PMID:15340362|PMID:15382066|PMID:16168118|PMID:16683254|PMID:16905680|PMID:17148771|PMID:17972171|PMID:18042939|PMID:19863560|PMID:20104584|PMID:20694749|PMID:20736950|PMID:21120943|PMID:21324516|PMID:23199084|PMID:23318356|PMID:23621881|PMID:24033266|PMID:24055113|PMID:24156927|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25884701|PMID:25927356|PMID:26219728|PMID:26295337|PMID:26425718|PMID:26467025|PMID:26687385|PMID:26786923|PMID:27741520|PMID:28008555|PMID:28294317|PMID:28423363|PMID:28492532|PMID:28503720|PMID:28715532|PMID:28724667|PMID:28831036|PMID:29161300|PMID:29339979|PMID:29360161|PMID:29446198|PMID:29478780|PMID:29625052|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30287823|PMID:30702160|PMID:30720243|PMID:30787465|PMID:31174498|PMID:31360904|PMID:31447099|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32190957|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32772980|PMID:32885271|PMID:33087929|PMID:33461583|PMID:33471991|PMID:34399810|PMID:8673090|PMID:9150172|PMID:9667259|PMID:9792861 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18006916|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26681312|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965|PMID:27383479 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27914478|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29492181|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30287823|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30725392|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31825140|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32444794|PMID:32455662|PMID:32761968|PMID:33233347|PMID:33428613|PMID:33471991|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26681312|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:27469594|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27914478|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29492181|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30032850|PMID:30039884|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30287823|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30725392|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31825140|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32613071|PMID:32761968|PMID:32980694|PMID:33054725|PMID:33233347|PMID:33428613|PMID:33471991|PMID:34072659|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29487695|PMID:29492181|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31396961|PMID:31428572|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31948886|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32613071|PMID:32719484|PMID:32761968|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32879886|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33078592|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33726785|PMID:34046351|PMID:34072659|PMID:34567246|PMID:35300142|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11950811|PMID:11979449|PMID:12065746|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16199547|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17011979|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18006916|PMID:18284688|PMID:18286383|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25452441|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26576347|PMID:26681312|PMID:26689913|PMID:26692440 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27852271|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28944232|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29723101|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30489631|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30638113|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:31090900|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31396961|PMID:31409081|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32101877|PMID:32123317|PMID:32132887|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32581362|PMID:32613071|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32853339|PMID:32854451|PMID:32879886|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33151324|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33608381|PMID:33646313|PMID:33726785|PMID:33842585|PMID:33891299|PMID:33918338|PMID:34046351|PMID:34072659|PMID:34100114|PMID:34308366|PMID:34326862|PMID:34399810|PMID:34567246|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35418818|PMID:35736817|PMID:35918668|PMID:36011273|PMID:36169650|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36605468|PMID:36988593|PMID:37002487|PMID:37067535|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:736254 D RGD:9068941 20200609 RGD DNA:mutation PMID:8524414|REF_RGD_ID:1599503 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17565157|PMID:17574839|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17688236|PMID:17700570|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18317453|PMID:18375895|PMID:18393245|PMID:18403564|PMID:184056|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18528753|PMID:18547621|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:186727|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19052777|PMID:19064968|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19574032|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19714488|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20878484|PMID:20887823|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22438049|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11754111|PMID:11781689|PMID:1178672|PMID:11793480|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114473|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12402332|PMID:12414830|PMID:12442265|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12759930|PMID:12774040|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12960223|PMID:1446381|PMID:14517958|PMID:14520695|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16324400|PMID:16389418|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16768547|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:22632462|PMID:22638694|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22866093|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23531862|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23754601|PMID:23767878|PMID:23857704|PMID:23877192|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23977390|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24131973|PMID:24141157|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24333842|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25136594|PMID:25146914|PMID:25151137|PMID:251866|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25326637|PMID:25330149|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25673166|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25896959|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25980754|PMID:26004055|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26145171|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26681312|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26757417|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26997744|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165126|PMID:27165220|PMID:27176796|PMID:27194814|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27433846|PMID:27456091|PMID:27469594|PMID:27478808|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27616075|PMID:27628236|PMID:27658390|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:278235|PMID:27831900|PMID:27836010|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28205045|PMID:28222693|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28541631|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29625052|PMID:29642553|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29802286|PMID:29805665|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29906450|PMID:29907814|PMID:29909963 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:29915322|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30212499|PMID:30217213|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30340782|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30555256|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30972954|PMID:30982232|PMID:31002019|PMID:31019283|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31469826|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31569370|PMID:31589614|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31887429|PMID:31892343|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32046981|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32365798|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32486089|PMID:32489267|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32581362|PMID:32599251|PMID:32606146|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32816949|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32923906 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9008952 Breast Cancer, Familial ISO RGD:736254 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:32939053|PMID:32947577|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32984025|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33469799|PMID:3347199|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34490083|PMID:34500047|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34598035|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34717758|PMID:34761457|PMID:34906479|PMID:34917121|PMID:34933735|PMID:34949660|PMID:34970085|PMID:35008403|PMID:35053526|PMID:35171259|PMID:35190686|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35353237|PMID:35377489|PMID:35402282|PMID:35411189|PMID:35418818|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35464868|PMID:35472165|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35710434|PMID:35711920|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36119527|PMID:36139606|PMID:36169650|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36370215|PMID:36446827|PMID:36451132|PMID:36551643|PMID:36605468|PMID:36627197|PMID:36721989|PMID:36785489|PMID:36881271|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37149759|PMID:37173992|PMID:3723905|PMID:37349538|PMID:37461096|PMID:37664050|PMID:37922907|PMID:668580|PMID:734551|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9192668|PMID:9361038|PMID:9429140|PMID:9536098|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9840533|PMID:9971877 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9256 colorectal cancer ISO RGD:736254 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9256 colorectal cancer ISO RGD:736254 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:33609447 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9256 colorectal cancer severity ISO RGD:736254 D RGD:9068941 20210430 RGD PMID:16533773|REF_RGD_ID:126790575 8999503 Brca2 BRCA2 DNA repair associated gene DOID:9460 uterine corpus cancer ISO RGD:736254 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:11030418|PMID:11158174|PMID:11802209|PMID:12065746|PMID:12373604|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15689453|PMID:16115142|PMID:16825431|PMID:16912212|PMID:17100994|PMID:17513806|PMID:17924331|PMID:18465347|PMID:18703817|PMID:19043619|PMID:19241424|PMID:20104584|PMID:20736950|PMID:21138478|PMID:21203900|PMID:21324516|PMID:21520273|PMID:21598239|PMID:21719596|PMID:21952622|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22535016|PMID:22666503|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23108138|PMID:23199084|PMID:23469205|PMID:23767878|PMID:23929434|PMID:24033266|PMID:24156927|PMID:24323938|PMID:24504028|PMID:24884479|PMID:25066507|PMID:25085752|PMID:25146914|PMID:25476495|PMID:25583207|PMID:25741868|PMID:25782689|PMID:26014432|PMID:26026974|PMID:26064523|PMID:26250392|PMID:26295337|PMID:26467025|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26733283|PMID:26845104|PMID:27153395|PMID:27194814|PMID:27257965|PMID:27425403|PMID:27495310|PMID:27741520|PMID:27831900|PMID:28111427|PMID:28195393|PMID:28324225|PMID:28492532|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29368341|PMID:29394989|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30199306|PMID:30217213|PMID:30257646|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30787465|PMID:30875412|PMID:31090900|PMID:31112363|PMID:31263054|PMID:31263571|PMID:31396961|PMID:31411802|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31853058|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32719484|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:33054725|PMID:33087929|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33891299|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34399810|PMID:34680878|PMID:34906479|PMID:35220195|PMID:36329109|PMID:36988593|PMID:8524414|PMID:8665505|PMID:9585613|PMID:9667259 8999503 Brca2 BRCA2, DNA repair associated gene DOID:83 cataract ISO RGD:2219 D RGD:9068941 20200609 RGD PMID:16964288|REF_RGD_ID:1599505 8999547 Rps5 ribosomal protein S5 gene DOID:630 genetic disease ISO RGD:736632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999558 Hhex hematopoietically expressed homeobox gene DOID:0050770 polycystic liver disease ISO RGD:1350411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 8999558 Hhex hematopoietically expressed homeobox gene DOID:630 genetic disease ISO RGD:1350411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999558 Hhex hematopoietically expressed homeobox gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1350411 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 8999558 Hhex hematopoietically expressed homeobox gene DOID:9008939 Breast Neoplasms ISO RGD:1350411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16854221 8999558 Hhex hematopoietically expressed homeobox gene DOID:9352 type 2 diabetes mellitus ISO RGD:1350411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104008 8999558 Hhex hematopoietically expressed homeobox gene DOID:9452 steatotic liver disease ISO RGD:1350411 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 8999574 Lhfpl2 LHFPL tetraspan subfamily member 2 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1320443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 8999574 Lhfpl2 LHFPL tetraspan subfamily member 2 gene DOID:0080600 COVID-19 ISO RGD:1320443 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8999574 Lhfpl2 LHFPL tetraspan subfamily member 2 gene DOID:12800 mucopolysaccharidosis VI ISO RGD:1320443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:10036316|PMID:17458871|PMID:18486607|PMID:28492532 8999574 Lhfpl2 LHFPL tetraspan subfamily member 2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1320443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 8999574 Lhfpl2 LHFPL tetraspan subfamily member 2 gene DOID:630 genetic disease ISO RGD:1320443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999574 Lhfpl2 LHFPL tetraspan subfamily member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0050771 pheochromocytoma ISO RGD:732223 D RGD:9068941 20200609 RGD PMID:25879199|REF_RGD_ID:13792787 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0060810 syndromic X-linked intellectual disability type 10 ISO RGD:732223 D RGD:7240710 20180130 OMIM 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0060810 syndromic X-linked intellectual disability type 10 ISO RGD:732223 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR | ClinVar Annotator: match by term: HSD10 mitochondrial disease | ClinVar Annotator: match by term: HSD17B10-Related Disorder PMID:10521307|PMID:11102558|PMID:12112118|PMID:12555940|PMID:12696021|PMID:12872843|PMID:15059617|PMID:15342248|PMID:16148061|PMID:16176262|PMID:17236142|PMID:17618155|PMID:18996107|PMID:20077426|PMID:22132097|PMID:23266819|PMID:24549042|PMID:25741868|PMID:26950678|PMID:28333917|PMID:28492532|PMID:31654490|PMID:34765396 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0080600 COVID-19 ISO RGD:732223 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:10652 Alzheimer's disease ISO RGD:1332361 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, neuron, mitochondria PMID:11869808|REF_RGD_ID:632866 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:10652 Alzheimer's disease ISO RGD:732223 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:9338779|REF_RGD_ID:1358426 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:10652 Alzheimer's disease treatment ISO RGD:1332361 D RGD:9068941 20200609 RGD PMID:21307267|REF_RGD_ID:13792781 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:12849 autistic disorder ISO RGD:732223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:14227 azoospermia ISO RGD:1332361 D RGD:9068941 20200609 RGD mRNA:increased expression:testis PMID:9851691|REF_RGD_ID:13792783 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:3347 osteosarcoma treatment ISO RGD:732223 D RGD:9068941 20200609 RGD PMID:19449377|REF_RGD_ID:13792789 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:3910 lung adenocarcinoma ISO RGD:732223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:607 paraplegia ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:630 genetic disease ISO RGD:732223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15342248|PMID:25741868|PMID:28492532 8999585 Hsd17b10 hydroxysteroid 17-beta dehydrogenase 10 gene DOID:9004603 Atkin Syndrome ISO RGD:732223 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 8999609 Snx9 sorting nexin 9 gene DOID:10348 blepharophimosis ISO RGD:1353452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:24674232 8999609 Snx9 sorting nexin 9 gene DOID:630 genetic disease ISO RGD:1353452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999630 Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:4450 renal cell carcinoma ISO RGD:1348719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 8999630 Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 8999630 Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:630 genetic disease ISO RGD:1348719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999630 Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348719 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 8999630 Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1348719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 8999668 Islr immunoglobulin superfamily containing leucine rich repeat gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602010 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 8999668 Islr immunoglobulin superfamily containing leucine rich repeat gene DOID:2717 Bloom syndrome ISO RGD:1602010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8999668 Islr immunoglobulin superfamily containing leucine rich repeat gene DOID:5419 schizophrenia ISO RGD:1602010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8999668 Islr immunoglobulin superfamily containing leucine rich repeat gene DOID:630 genetic disease ISO RGD:1602010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999668 Islr immunoglobulin superfamily containing leucine rich repeat gene DOID:9256 colorectal cancer ISO RGD:1602010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 8999679 Spata45 spermatogenesis associated 45 gene DOID:1540 parathyroid carcinoma ISO RGD:1606701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 8999679 Spata45 spermatogenesis associated 45 gene DOID:630 genetic disease ISO RGD:1606701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999679 Spata45 spermatogenesis associated 45 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 8999687 Arid5a AT-rich interaction domain 5A gene DOID:1059 intellectual disability ISO RGD:1322287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 8999687 Arid5a AT-rich interaction domain 5A gene DOID:5419 schizophrenia ISO RGD:1322287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8999687 Arid5a AT-rich interaction domain 5A gene DOID:630 genetic disease ISO RGD:1322287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:0060270 pontocerebellar hypoplasia type 2D ISO RGD:1315879 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D PMID:25741868 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:0110728 neuronal ceroid lipofuscinosis 5 ISO RGD:1315879 D RGD:7240710 20180130 OMIM 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:0110728 neuronal ceroid lipofuscinosis 5 ISO RGD:1315879 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 PMID:10953198|PMID:11971870|PMID:12134079|PMID:15207259|PMID:15349861|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:17607606|PMID:18414213|PMID:18684116|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20490930|PMID:20960652|PMID:21447811|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23160995|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25359263|PMID:25525159|PMID:25677497|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30655561|PMID:30919163|PMID:31105743|PMID:31130284|PMID:31319225|PMID:31493945|PMID:31741823|PMID:32005694|PMID:32302805|PMID:32983231|PMID:34906502|PMID:36339300|PMID:9536098|PMID:9662406 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:1059 intellectual disability ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10953198|PMID:11727201|PMID:11971870|PMID:12134079|PMID:12673792|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25677497|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31105743|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10953198|PMID:11971870|PMID:12134079|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31105743|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10953198|PMID:11971870|PMID:12134079|PMID:15728307|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19201763|PMID:19383612|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20960652|PMID:21990111|PMID:22532218|PMID:22727047|PMID:23374165|PMID:24058541|PMID:24767253|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30919163|PMID:31105743|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:9536098|PMID:9662406 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315879 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:10528251|PMID:10953198|PMID:11971870|PMID:12134079|PMID:15349861|PMID:15728307|PMID:16199547|PMID:16814585|PMID:17576681|PMID:18414213|PMID:18684116|PMID:19201763|PMID:19309691|PMID:19383612|PMID:20052765|PMID:20127975|PMID:20157158|PMID:20301601|PMID:20490930|PMID:20960652|PMID:21447811|PMID:21990111|PMID:22532218|PMID:22589734|PMID:22727047|PMID:23160995|PMID:23374165|PMID:24038957|PMID:24058541|PMID:24767253|PMID:25359263|PMID:25525159|PMID:25640679|PMID:25677497|PMID:25741868|PMID:25976102|PMID:26342652|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27149842|PMID:27533158|PMID:27553520|PMID:27884173|PMID:28492532|PMID:28542837|PMID:29482223|PMID:29655203|PMID:30037983|PMID:30078242|PMID:30264640|PMID:30394532|PMID:30655561|PMID:30919163|PMID:31069529|PMID:31105743|PMID:31130284|PMID:31406620|PMID:31741823|PMID:32005694|PMID:32393339|PMID:32983231|PMID:34906502|PMID:36339300|PMID:8001159|PMID:9536098|PMID:9662406 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:1826 epilepsy ISO RGD:1315879 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:20157158|PMID:21990111|PMID:22727047|PMID:23374165|PMID:24767253|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27533158|PMID:27884173|PMID:28492532|PMID:9662406 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:630 genetic disease ISO RGD:1315879 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11971870|PMID:12134079|PMID:15728307|PMID:17576681|PMID:18414213|PMID:20052765|PMID:20157158|PMID:20301601|PMID:20490930|PMID:21990111|PMID:22727047|PMID:23374165|PMID:24767253|PMID:25677497|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27069701|PMID:27533158|PMID:27884173|PMID:28492532|PMID:30078242|PMID:30264640|PMID:9536098|PMID:9662406 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive PMID:18414213|PMID:24767253|PMID:25741868|PMID:26467025|PMID:28492532 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:9000343 Vision Disorders ISO RGD:1315879 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:24804307 8999698 Cln5 CLN5 intracellular trafficking protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315879 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8999725 CUNH15orf48 chromosome unknown C15orf48 homolog gene DOID:0050712 AGAT deficiency ISO RGD:1601736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8999725 CUNH15orf48 chromosome unknown C15orf48 homolog gene DOID:2717 Bloom syndrome ISO RGD:1601736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8999725 CUNH15orf48 chromosome unknown C15orf48 homolog gene DOID:630 genetic disease ISO RGD:1601736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999725 CUNH15orf48 chromosome unknown C15orf48 homolog gene DOID:9256 colorectal cancer ISO RGD:1601736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8999737 Arhgap33 Rho GTPase activating protein 33 gene DOID:0060041 autism spectrum disorder ISO RGD:1318752 D RGD:9068941 20210430 RGD PMID:25869807|REF_RGD_ID:126848764 8999737 Arhgap33 Rho GTPase activating protein 33 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1318751 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 8999737 Arhgap33 Rho GTPase activating protein 33 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 8999737 Arhgap33 Rho GTPase activating protein 33 gene DOID:150 disease of mental health ISO RGD:1318752 D RGD:9068941 20210430 RGD PMID:26839058|REF_RGD_ID:11343316 8999737 Arhgap33 Rho GTPase activating protein 33 gene DOID:3328 temporal lobe epilepsy ISO RGD:1318752 D RGD:9068941 20210430 RGD protein:increased phosphorylation:hippocampus PMID:30996354|REF_RGD_ID:126848765 8999737 Arhgap33 Rho GTPase activating protein 33 gene DOID:630 genetic disease ISO RGD:1318751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999777 Ybx3 Y-box binding protein 3 gene DOID:630 genetic disease ISO RGD:733766 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999777 Ybx3 Y-box binding protein 3 gene DOID:9008091 Optic Nerve Injuries ISO RGD:621056 D RGD:9068941 20200609 RGD mRNA:increased expression:retinal ganglion cell PMID:11750989|REF_RGD_ID:2311250 8999790 Ndnf neuron derived neurotrophic factor gene DOID:289 endometriosis ISO RGD:1606239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 8999790 Ndnf neuron derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:1606239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999790 Ndnf neuron derived neurotrophic factor gene DOID:9001845 Hypogonadotropic Hypogonadism 25 with Anosmia ISO RGD:1606239 D RGD:7240710 20200408 OMIM 8999790 Ndnf neuron derived neurotrophic factor gene DOID:9001845 Hypogonadotropic Hypogonadism 25 with Anosmia ISO RGD:1606239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 25 with anosmia PMID:25741868|PMID:31883645 8999790 Ndnf neuron derived neurotrophic factor gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1606239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 8999790 Ndnf neuron derived neurotrophic factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0050696 fetal alcohol spectrum disorder treatment ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:22037411|PMID:23763370|REF_RGD_ID:13210751|REF_RGD_ID:13432044 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0050742 nicotine dependence severity ISO RGD:731079 D RGD:9068941 20231109 RGD DNA:SNP: :rs2268132 PMID:28900078|REF_RGD_ID:401900295 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0060001 withdrawal disorder severity ISO RGD:2738 D RGD:9068941 20231221 RGD PMID:23113297|REF_RGD_ID:401938657 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0060041 autism spectrum disorder ISO RGD:731079 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:731079 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731079 D RGD:7240710 20180130 OMIM 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:731079 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GRIN2B-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23033978|PMID:23160955|PMID:23408766|PMID:23934111|PMID:24272827|PMID:24759409|PMID:25326635|PMID:25326637|PMID:25356899|PMID:25741868|PMID:25741869|PMID:26350515|PMID:26467025|PMID:26633542|PMID:27135925|PMID:27353043|PMID:27572814|PMID:27616045|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28283559|PMID:28333917|PMID:28377535|PMID:28440294|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28856709|PMID:28867141|PMID:29681796|PMID:29851452|PMID:30151416|PMID:30217972|PMID:30315573|PMID:30440138|PMID:30564305|PMID:30842224|PMID:31429998|PMID:31623504|PMID:33604570|PMID:34008892|PMID:34160719|PMID:34212862|PMID:9536098 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731079 D RGD:7240710 20180130 OMIM 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 27 | ClinVar Annotator: match by term: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder PMID:16199547|PMID:16537520|PMID:17576681|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23033978|PMID:23408766|PMID:24272827|PMID:24759409|PMID:24863970|PMID:25326635|PMID:25356899|PMID:25741868|PMID:25741869|PMID:26350515|PMID:26467025|PMID:26633542|PMID:27353043|PMID:27572814|PMID:27616045|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28283559|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28554332|PMID:28708303|PMID:28856709|PMID:28867141|PMID:29681796|PMID:29851452|PMID:30151416|PMID:30217972|PMID:30315573|PMID:30440138|PMID:30564305|PMID:30842224|PMID:31429998|PMID:31623504|PMID:33604570|PMID:34008892|PMID:34160719|PMID:9536098 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:731079 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder PMID:16537520|PMID:17576681|PMID:23033978|PMID:24272827|PMID:24759409|PMID:24863970|PMID:25326635|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27353043|PMID:28377535|PMID:28440294|PMID:28492532|PMID:28554332|PMID:28708303|PMID:29851452|PMID:30151416|PMID:30842224|PMID:34160719|PMID:34212862|PMID:9536098 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10584 retinitis pigmentosa ISO RGD:2738 D RGD:9068941 20200609 RGD protein:decreased expression:outer plexiform layer of retina (rat) PMID:11925013|REF_RGD_ID:13432034 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1059 intellectual disability ISO RGD:731079 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:17576681|PMID:20890276|PMID:23160955|PMID:24272827|PMID:25326637|PMID:25741868|PMID:27839871|PMID:28377535|PMID:28492532|PMID:29681796|PMID:9536098 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease ISO RGD:731079 D RGD:9068941 20200609 RGD PMID:24156266|REF_RGD_ID:13792688 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs1806201 (human) PMID:24292895|REF_RGD_ID:13792709 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-421C>A (rs3764028) (human) PMID:18983893|REF_RGD_ID:13792713 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease no_association ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNP: :2664C>T (rs1806201) (human) PMID:24292895|REF_RGD_ID:13792709 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease no_association ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exon, 3' utr:-200T>G (rs1019385), 2664C>T (rs1806201), 5072G>T (rs890) (human) PMID:18303265|REF_RGD_ID:13792714 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:10652 Alzheimer's disease no_association ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-200T>G (rs1019385), -1447T>C, -1497G>A (rs12368476) (human) PMID:18983893|REF_RGD_ID:13792713 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:18571865|REF_RGD_ID:13210768 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain (rat) PMID:22777493|REF_RGD_ID:13432033 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:11206 opioid abuse ISO RGD:731079 D RGD:9068941 20231221 RGD protein:increased expression:medial prefrontal cortex,lateral prefrontal cortex,orbitofrontal cortex PMID:29766293|REF_RGD_ID:401938658 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:11446 sciatic neuropathy ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:26656067|REF_RGD_ID:13792690 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:11782 astigmatism ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868|PMID:28377535|PMID:28492532|PMID:34160719 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12849 autistic disorder ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12858 Huntington's disease ISO RGD:10687 D RGD:9068941 20200609 RGD PMID:17409241|REF_RGD_ID:13432195 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12858 Huntington's disease onset ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNP: :2664C>T (rs1806201) (human) PMID:17569088|REF_RGD_ID:13432554 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:12858 Huntington's disease onset ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human) PMID:15742215|REF_RGD_ID:13432556 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1561 cognitive disorder ISO RGD:2738 D RGD:9068941 20200609 RGD associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus PMID:26656067|REF_RGD_ID:13792690 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1574 alcohol use disorder ISO RGD:731079 D RGD:9068941 20200609 RGD PMID:14573320|PMID:16911840|REF_RGD_ID:1642200|REF_RGD_ID:1642372 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1826 epilepsy ISO RGD:731079 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27818011|PMID:28333917|PMID:28377535|PMID:28492532|PMID:28867141 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:1969 cerebral palsy ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868|PMID:28492532 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:2738 D RGD:9068941 20231230 RGD PMID:30885791|REF_RGD_ID:401940141 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:2538 Landau-Kleffner syndrome ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:25741868 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:731079 D RGD:9068941 20231109 RGD DNA:SNP: :rs2268132 PMID:28900078|REF_RGD_ID:401900295 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3312 bipolar disorder ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple PMID:16549338|REF_RGD_ID:1642201 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3328 temporal lobe epilepsy ISO RGD:731079 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus pyramidal layer (human) PMID:9761317|REF_RGD_ID:13432039 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:3891 placental insufficiency ISO RGD:2738 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:19144756|REF_RGD_ID:2326049 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:4377 egg allergy ISO RGD:2738 D RGD:9068941 20200609 RGD protein:increased expression:brain, cingulate cortex (rat) PMID:19208366|REF_RGD_ID:2326032 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:28628228|REF_RGD_ID:13792717 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:731079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:731079 D RGD:9068941 20200609 RGD PMID:17224684|REF_RGD_ID:1642197 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:5419 schizophrenia ISO RGD:731079 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple PMID:16549338|REF_RGD_ID:1642201 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:543 dystonia ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal dystonia PMID:25741868 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:630 genetic disease ISO RGD:731079 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12738960|PMID:16157279|PMID:18414213|PMID:19874789|PMID:20890276|PMID:22986046|PMID:23020937|PMID:23160955|PMID:23408766|PMID:23478024|PMID:23934111|PMID:24272827|PMID:25326635|PMID:25356899|PMID:25363768|PMID:25741868|PMID:26467025|PMID:26633542|PMID:27135925|PMID:27818011|PMID:27839871|PMID:28191890|PMID:28377535|PMID:28492532|PMID:28856709|PMID:29655203|PMID:30217972|PMID:34008892 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:8725 vascular dementia severity ISO RGD:731079 D RGD:9068941 20200609 RGD PMID:25261450|REF_RGD_ID:13792687 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9001793 Generalized Epilepsy ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002211 Hyperalgesia ISO RGD:731079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20042082 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002211 Hyperalgesia treatment ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:24204988|REF_RGD_ID:13210755 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:20423831|REF_RGD_ID:13210763 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9002669 Hypoxia treatment ISO RGD:2738 D RGD:9068941 20200609 RGD associated with Hypercapnia PMID:24718106|REF_RGD_ID:13210749 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:19761817|REF_RGD_ID:2325954 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004009 Reperfusion Injury ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebral cortex, hippocampus (rat) PMID:20350575|REF_RGD_ID:2325867 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731079 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9004866 Ataxia ISO RGD:731079 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Dyssynergia PMID:25741868|PMID:28377535 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebellum (rat) PMID:20056114|REF_RGD_ID:4107025 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9006024 Hypotension ISO RGD:731079 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18639534 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9006062 Nervous System Trauma ISO RGD:2738 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:20079352|REF_RGD_ID:4107024 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:731079 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:23020937|PMID:24272827|PMID:25326635|PMID:25356899|PMID:25741868|PMID:26350515|PMID:27572814|PMID:27839871|PMID:28191890|PMID:28377535|PMID:28492532|PMID:28856709|PMID:29681796|PMID:30217972|PMID:30440138|PMID:30842224|PMID:31429998|PMID:34008892|PMID:34212862 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9007980 Sleep Deprivation ISO RGD:2738 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (rat) PMID:20237303|REF_RGD_ID:4107020 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9008086 Developmental Disabilities ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741871 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:731079 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9008582 Developmental Disease ISO RGD:731079 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:26350515|PMID:28377535|PMID:28492532|PMID:30842224|PMID:34212862 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2738 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9281 phenylketonuria ISO RGD:10687 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain (mouse) PMID:16153867|REF_RGD_ID:13210766 8999814 Grin2b glutamate ionotropic receptor NMDA type subunit 2B gene DOID:9993 hypoglycemia ISO RGD:2738 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebellum (rat) PMID:20056114|REF_RGD_ID:4107025 8999840 Cebpe CCAAT enhancer binding protein epsilon gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733093 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16788101 8999840 Cebpe CCAAT enhancer binding protein epsilon gene DOID:0060439 lysinuric protein intolerance ISO RGD:733093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 8999840 Cebpe CCAAT enhancer binding protein epsilon gene DOID:630 genetic disease ISO RGD:733093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 8999840 Cebpe CCAAT enhancer binding protein epsilon gene DOID:9000056 IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION ISO RGD:733093 D RGD:7240710 20220921 OMIM 8999840 Cebpe CCAAT enhancer binding protein epsilon gene DOID:9000056 IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION ISO RGD:733093 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: CEBPE-related condition | ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain PMID:25741868|PMID:28492532|PMID:31201888|PMID:4831644 8999840 Cebpe CCAAT enhancer binding protein epsilon gene DOID:9000265 Specific Granule Deficiency ISO RGD:733093 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:11313242|PMID:11435463|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 8999840 Cebpe CCAAT enhancer binding protein epsilon gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733093 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 8999840 Cebpe CCAAT enhancer binding protein epsilon gene DOID:9009082 Specific Granule Deficiency 1 ISO RGD:733093 D RGD:7240710 20190327 OMIM 8999840 Cebpe CCAAT enhancer binding protein epsilon gene DOID:9009082 Specific Granule Deficiency 1 ISO RGD:733093 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Specific granule deficiency 1 PMID:10359588|PMID:11313242|PMID:11435463|PMID:17244686|PMID:25741868|PMID:26019275|PMID:28492532|PMID:29651288|PMID:32391290|PMID:35726044|PMID:4129798|PMID:7088114|PMID:758416 8999840 Cebpe CCAAT enhancer binding protein epsilon gene DOID:9952 acute lymphoblastic leukemia ISO RGD:733093 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19684604 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:734112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease PMID:17932099|PMID:18337100|PMID:18337730|PMID:22094069|PMID:22649220|PMID:23739125|PMID:23893571|PMID:24349310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7581380|PMID:7951215|PMID:8533761|PMID:8571958 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:0080000 muscular disease ISO RGD:734112 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:10430417|PMID:10644771|PMID:10665666|PMID:11184019|PMID:11840191|PMID:11933197|PMID:12390967|PMID:15162127|PMID:15980168|PMID:17107341|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:22094069|PMID:22197187|PMID:22995991|PMID:23097607|PMID:23152584|PMID:23739125|PMID:23893571|PMID:24033266|PMID:24349310|PMID:25741868|PMID:26096614|PMID:26467025|PMID:27142102|PMID:27296017|PMID:27614575|PMID:28492532|PMID:29606556|PMID:32528171|PMID:33013670|PMID:33263785|PMID:34008892|PMID:34529042|PMID:7874130|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9566422|PMID:9598722 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:0081335 Becker disease ISO RGD:734112 D RGD:7240710 20240228 OMIM 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:0081335 Becker disease ISO RGD:734112 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Becker disease | ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form | ClinVar Annotator: match by term: Myotonia congenita autosomal recessive PMID:10051520|PMID:10215406|PMID:10360989|PMID:10430417|PMID:10467912|PMID:10525982|PMID:10533075|PMID:10619717|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11113225|PMID:11184019|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12196568|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:12699527|PMID:1379744|PMID:14639587|PMID:14724190|PMID:15116370|PMID:15162127|PMID:15241802|PMID:15311340|PMID:15786415|PMID:15980168|PMID:16027167|PMID:16199547|PMID:16321142|PMID:16567465|PMID:16629771|PMID:16770776|PMID:17042925|PMID:17097617|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17717708|PMID:17932099|PMID:17990293|PMID:18035046|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18579381|PMID:18624224|PMID:18807109|PMID:18816629|PMID:19185184|PMID:19697366|PMID:19882638|PMID:19949657|PMID:20181190|PMID:20301529|PMID:20398785|PMID:20399394|PMID:21045501|PMID:21204798|PMID:21221019|PMID:21387378|PMID:21520333|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22246887|PMID:22346025|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22689570|PMID:22790975|PMID:22921319|PMID:22987687|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23225051|PMID:23408874|PMID:23417379|PMID:23424641|PMID:23456831|PMID:23483815|PMID:23516313|PMID:23603549|PMID:23739125|PMID:23810313|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24515601|PMID:24530047|PMID:24625573|PMID:24705798|PMID:24920213|PMID:25036107|PMID:25065301|PMID:25088311|PMID:25438602|PMID:25487368|PMID:25741868|PMID:25749817|PMID:25852444|PMID:26007199|PMID:26021757|PMID:26036855|PMID:26042048|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26471370|PMID:26502825|PMID:26510092|PMID:26633545|PMID:27066551|PMID:27098784|PMID:27118449|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27300293|PMID:27415035|PMID:27580824|PMID:27582597|PMID:27614575|PMID:27639085|PMID:27653901|PMID:27666773|PMID:27884173|PMID:27927941|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28600779|PMID:28662944|PMID:28706458|PMID:28993909|PMID:29050397|PMID:29405036|PMID:29424939|PMID:29480456|PMID:29500929|PMID:29606556|PMID:29790872|PMID:29851785|PMID:29935101|PMID:30243293|PMID:31054297|PMID:31069529|PMID:31130284|PMID:31216405|PMID:31544778|PMID:31566103|PMID:31567646|PMID:31589614|PMID:31692161|PMID:31732390|PMID:31772215|PMID:31970219|PMID:32117024|PMID:32140910|PMID:32214227|PMID:32355288|PMID:32407401|PMID:32466254|PMID:32528171|PMID:32593548|PMID:32660787|PMID:32670189|PMID:32721234|PMID:33013670|PMID:33263785|PMID:33573884|PMID:33670307|PMID:34008892|PMID:34106991|PMID:34426522|PMID:34529042|PMID:34790634|PMID:35002143|PMID:35170402|PMID:35350395|PMID:35907044|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7951242|PMID:7981750|PMID:8112288|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040658|PMID:9040760|PMID:9122265|PMID:9158157|PMID:9536098|PMID:9566422|PMID:9598722|PMID:9703437|PMID:9736066|PMID:9736777 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:0081336 Thomsen disease ISO RGD:734112 D RGD:7240710 20180130 OMIM 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:0081336 Thomsen disease ISO RGD:734112 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form | ClinVar Annotator: match by term: Thomsen's disease PMID:10051520|PMID:10360989|PMID:10430417|PMID:10467912|PMID:10533075|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11184019|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:12699527|PMID:1379744|PMID:14639587|PMID:15116370|PMID:15162127|PMID:15786415|PMID:15980168|PMID:16199547|PMID:16321142|PMID:16770776|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17717708|PMID:17932099|PMID:17990293|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18624224|PMID:18807109|PMID:18816629|PMID:19949657|PMID:20301529|PMID:21045501|PMID:21204798|PMID:21221019|PMID:21387378|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22790975|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23516313|PMID:23603549|PMID:23739125|PMID:23810313|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24515601|PMID:24625573|PMID:24920213|PMID:25036107|PMID:25065301|PMID:25088311|PMID:25438602|PMID:25741868|PMID:25749817|PMID:26042048|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26502825|PMID:26510092|PMID:26633545|PMID:27118449|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27300293|PMID:27415035|PMID:27582597|PMID:27614575|PMID:27639085|PMID:27884173|PMID:27927941|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28662944|PMID:28706458|PMID:28993909|PMID:29050397|PMID:29500929|PMID:29606556|PMID:29790872|PMID:29935101|PMID:31544778|PMID:31567646|PMID:31589614|PMID:31692161|PMID:31732390|PMID:32117024|PMID:32117034|PMID:32355288|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32721234|PMID:33013670|PMID:33263785|PMID:33573884|PMID:34008892|PMID:34106991|PMID:34426522|PMID:34529042|PMID:35350395|PMID:35907044|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7951242|PMID:7981750|PMID:8112288|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040760|PMID:9122265|PMID:9158157|PMID:9536098|PMID:9566422|PMID:9598722|PMID:9736777 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:0081337 congenital myopathy ISO RGD:734112 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar Annotator: match by term: Congenital myopathy PMID:10051520|PMID:10215406|PMID:10430417|PMID:10467912|PMID:10533075|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11113225|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:14639587|PMID:15162127|PMID:15241802|PMID:15311340|PMID:15786415|PMID:15980168|PMID:16027167|PMID:16199547|PMID:16629771|PMID:16770776|PMID:17097617|PMID:17107341|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18035046|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:19949657|PMID:20301529|PMID:21221019|PMID:21387378|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23408874|PMID:23417379|PMID:23424641|PMID:23516313|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24530047|PMID:24625573|PMID:24920213|PMID:25036107|PMID:25065301|PMID:25088311|PMID:25438602|PMID:25741868|PMID:25749817|PMID:25852444|PMID:26021757|PMID:26036855|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27066551|PMID:27098784|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27415035|PMID:27580824|PMID:27614575|PMID:28427807|PMID:28492532|PMID:28993909|PMID:29606556|PMID:31054297|PMID:31216405|PMID:31544778|PMID:31567646|PMID:31692161|PMID:32117024|PMID:32660787|PMID:32670189|PMID:33263785|PMID:34008892|PMID:34106991|PMID:34529042|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7981750|PMID:8112288|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040658|PMID:9122265|PMID:9158157|PMID:9566422|PMID:9736777 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:0081337 congenital myopathy ISO RGD:734112 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy PMID:10051520|PMID:10215406|PMID:10430417|PMID:10467912|PMID:10533075|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11113225|PMID:11184019|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:14639587|PMID:15162127|PMID:15241802|PMID:15311340|PMID:15786415|PMID:15980168|PMID:16027167|PMID:16199547|PMID:16629771|PMID:16770776|PMID:17097617|PMID:17107341|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18035046|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:19949657|PMID:20301529|PMID:21221019|PMID:21387378|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23408874|PMID:23417379|PMID:23424641|PMID:23516313|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24530047|PMID:24625573|PMID:24920213|PMID:25036107|PMID:25065301|PMID:25088311|PMID:25438602|PMID:25741868|PMID:25749817|PMID:25852444|PMID:26021757|PMID:26036855|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27066551|PMID:27098784|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27415035|PMID:27580824|PMID:27614575|PMID:27884173|PMID:28427807|PMID:28492532|PMID:28993909|PMID:29606556|PMID:31054297|PMID:31216405|PMID:31544778|PMID:31567646|PMID:31692161|PMID:32117024|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32721234|PMID:33013670|PMID:33263785|PMID:34008892|PMID:34106991|PMID:34426522|PMID:34529042|PMID:34790634|PMID:35350395|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7981750|PMID:8112288|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040658|PMID:9122265|PMID:9158157|PMID:9566422|PMID:9598722|PMID:9736777 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:12932 endomyocardial fibrosis ISO RGD:734112 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Becker's disease PMID:10051520|PMID:10360989|PMID:10430417|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10962018|PMID:11184019|PMID:11840191|PMID:11933197|PMID:12390967|PMID:1379744|PMID:15162127|PMID:15786415|PMID:15980168|PMID:16770776|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:18816629|PMID:20301529|PMID:21204798|PMID:21221019|PMID:21387378|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22790975|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23516313|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24625573|PMID:25036107|PMID:25065301|PMID:25438602|PMID:25741868|PMID:26042048|PMID:26096614|PMID:26467025|PMID:26502825|PMID:26510092|PMID:26633545|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27300293|PMID:27415035|PMID:27614575|PMID:27884173|PMID:27927941|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28662944|PMID:28993909|PMID:29050397|PMID:29606556|PMID:29790872|PMID:31589614|PMID:31732390|PMID:32117024|PMID:32355288|PMID:32528171|PMID:32670189|PMID:33013670|PMID:33263785|PMID:34008892|PMID:34106991|PMID:34426522|PMID:34529042|PMID:35907044|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7951242|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040760|PMID:9536098|PMID:9566422|PMID:9598722|PMID:9736777 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:734112 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:14692 Smith-Lemli-Opitz syndrome ISO RGD:734112 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: RSH syndrome PMID:12390967|PMID:15162127|PMID:15786415|PMID:17932099|PMID:18337100|PMID:18337730|PMID:18816629|PMID:21387378|PMID:22094069|PMID:22649220|PMID:23516313|PMID:23739125|PMID:23893571|PMID:24037712|PMID:24349310|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28662944|PMID:29606556|PMID:31589614|PMID:34529042|PMID:7581380|PMID:7951215|PMID:8533761|PMID:8571958|PMID:9736777 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:1969 cerebral palsy ISO RGD:734112 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:10430417|PMID:10644771|PMID:10665666|PMID:11184019|PMID:11840191|PMID:11933197|PMID:12390967|PMID:15162127|PMID:15980168|PMID:17107341|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:22094069|PMID:22197187|PMID:22995991|PMID:23097607|PMID:23152584|PMID:23739125|PMID:23893571|PMID:24033266|PMID:24349310|PMID:25741868|PMID:26096614|PMID:26467025|PMID:27142102|PMID:27296017|PMID:27614575|PMID:28492532|PMID:29606556|PMID:32528171|PMID:33013670|PMID:33263785|PMID:34008892|PMID:34529042|PMID:7874130|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9566422|PMID:9598722 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:2106 myotonia congenita ISO RGD:734112 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar Annotator: match by term: Myotonia generalized | ClinVar Annotator: match by term: Myotonia levior PMID:10051520|PMID:10215406|PMID:10360989|PMID:10430417|PMID:10467912|PMID:10533075|PMID:10644771|PMID:10665666|PMID:10690989|PMID:10737121|PMID:10962018|PMID:11113225|PMID:11184019|PMID:11408615|PMID:11840191|PMID:11933197|PMID:12163078|PMID:12390967|PMID:12456816|PMID:12566541|PMID:12661046|PMID:1379744|PMID:14639587|PMID:15162127|PMID:15241802|PMID:15311340|PMID:15786415|PMID:15980168|PMID:16027167|PMID:16199547|PMID:16629771|PMID:16770776|PMID:17097617|PMID:17107341|PMID:17576681|PMID:17654559|PMID:17932099|PMID:17990293|PMID:18035046|PMID:18220014|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:18816629|PMID:19949657|PMID:20301529|PMID:21204798|PMID:21221019|PMID:21387378|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22197187|PMID:22407275|PMID:22521272|PMID:22641783|PMID:22649220|PMID:22790975|PMID:22995991|PMID:23097607|PMID:23113340|PMID:23152584|PMID:23408874|PMID:23417379|PMID:23424641|PMID:23516313|PMID:23739125|PMID:23893571|PMID:23933576|PMID:24033266|PMID:24037712|PMID:24064982|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:24530047|PMID:24625573|PMID:24920213|PMID:25036107|PMID:25065301|PMID:25088311|PMID:25438602|PMID:25741868|PMID:25749817|PMID:25852444|PMID:26021757|PMID:26036855|PMID:26042048|PMID:26096614|PMID:26260254|PMID:26467025|PMID:26502825|PMID:26510092|PMID:26633545|PMID:27066551|PMID:27098784|PMID:27142102|PMID:27199537|PMID:27266866|PMID:27296017|PMID:27300293|PMID:27415035|PMID:27580824|PMID:27614575|PMID:27884173|PMID:27927941|PMID:28325641|PMID:28427807|PMID:28492532|PMID:28662944|PMID:28993909|PMID:29050397|PMID:29606556|PMID:29790872|PMID:31054297|PMID:31216405|PMID:31544778|PMID:31567646|PMID:31589614|PMID:31692161|PMID:31732390|PMID:32117024|PMID:32355288|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32721234|PMID:33013670|PMID:33263785|PMID:34008892|PMID:34106991|PMID:34426522|PMID:34529042|PMID:34790634|PMID:35350395|PMID:35907044|PMID:758138|PMID:7581380|PMID:7874130|PMID:7951215|PMID:7951242|PMID:7981750|PMID:8112288|PMID:8301644|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9040658|PMID:9040760|PMID:9122265|PMID:9158157|PMID:9536098|PMID:9566422|PMID:9598722|PMID:9736777 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:423 myopathy ISO RGD:734112 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10430417|PMID:10644771|PMID:10665666|PMID:11184019|PMID:11840191|PMID:11933197|PMID:12390967|PMID:15162127|PMID:15980168|PMID:17107341|PMID:17932099|PMID:17990293|PMID:18263754|PMID:18337100|PMID:18337730|PMID:18807109|PMID:20301529|PMID:22094069|PMID:22197187|PMID:22995991|PMID:23097607|PMID:23152584|PMID:23739125|PMID:23893571|PMID:24033266|PMID:24349310|PMID:25741868|PMID:26096614|PMID:26467025|PMID:27142102|PMID:27296017|PMID:27614575|PMID:28492532|PMID:29606556|PMID:32528171|PMID:33013670|PMID:33263785|PMID:34008892|PMID:34529042|PMID:7874130|PMID:8533761|PMID:8571958|PMID:8845168|PMID:8857727|PMID:8857733|PMID:9566422|PMID:9598722 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:630 genetic disease ISO RGD:734112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23810313|PMID:25741868|PMID:26467025|PMID:26502825|PMID:28492532|PMID:31567646 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:6364 migraine ISO RGD:734112 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Migraine PMID:10737121|PMID:12163078|PMID:20301529|PMID:25741868|PMID:25749817|PMID:26467025|PMID:28492532|PMID:29606556|PMID:8533761|PMID:8845168 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:734112 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 8999857 Clcn1 chloride voltage-gated channel 1 gene DOID:9008993 Myotonia ISO RGD:734112 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Myotonia PMID:10051520|PMID:10690989|PMID:10962018|PMID:12390967|PMID:16321142|PMID:16770776|PMID:17654559|PMID:17932099|PMID:18337100|PMID:18337730|PMID:20301529|PMID:21221019|PMID:21698652|PMID:22094069|PMID:22109722|PMID:22407275|PMID:22521272|PMID:22641783|PMID:23113340|PMID:23739125|PMID:23933576|PMID:24037712|PMID:24088041|PMID:24304580|PMID:24349310|PMID:24452722|PMID:25036107|PMID:25741868|PMID:26467025|PMID:26510092|PMID:26633545|PMID:27199537|PMID:27266866|PMID:27614575|PMID:27884173|PMID:28427807|PMID:28492532|PMID:28993909|PMID:32117024|PMID:32670189|PMID:33263785|PMID:34106991|PMID:34426522|PMID:34529042|PMID:758138|PMID:7581380|PMID:7874130|PMID:8533761|PMID:8845168|PMID:8857727 8999884 Ago3 argonaute RISC catalytic component 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 8999884 Ago3 argonaute RISC catalytic component 3 gene DOID:630 genetic disease ISO RGD:1319350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999932 Trim69 tripartite motif containing 69 gene DOID:0050712 AGAT deficiency ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 8999932 Trim69 tripartite motif containing 69 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children 8999932 Trim69 tripartite motif containing 69 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:28492532 8999932 Trim69 tripartite motif containing 69 gene DOID:2717 Bloom syndrome ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 8999932 Trim69 tripartite motif containing 69 gene DOID:630 genetic disease ISO RGD:1312888 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999932 Trim69 tripartite motif containing 69 gene DOID:9256 colorectal cancer ISO RGD:1312888 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 8999943 CUNH17orf78 chromosome unknown C17orf78 homolog gene DOID:0060041 autism spectrum disorder ISO RGD:1602416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 8999943 CUNH17orf78 chromosome unknown C17orf78 homolog gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1602416 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 8999943 CUNH17orf78 chromosome unknown C17orf78 homolog gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:1602416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 8999943 CUNH17orf78 chromosome unknown C17orf78 homolog gene DOID:12849 autistic disorder ISO RGD:1602416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 8999943 CUNH17orf78 chromosome unknown C17orf78 homolog gene DOID:5419 schizophrenia ISO RGD:1602416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 8999943 CUNH17orf78 chromosome unknown C17orf78 homolog gene DOID:630 genetic disease ISO RGD:1602416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999943 CUNH17orf78 chromosome unknown C17orf78 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8999985 Skor2 SKI family transcriptional corepressor 2 gene DOID:0060356 Vici syndrome ISO RGD:3160638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 8999985 Skor2 SKI family transcriptional corepressor 2 gene DOID:1059 intellectual disability ISO RGD:3160638 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 8999985 Skor2 SKI family transcriptional corepressor 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:3160638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 8999998 Cd14 CD14 molecule gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 8999998 Cd14 CD14 molecule gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 8999998 Cd14 CD14 molecule gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347263 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8999998 Cd14 CD14 molecule gene DOID:0080642 Middle East respiratory syndrome ISO RGD:733890 D RGD:9068941 20200619 RGD mRNA:increased expression:lung PMID:31838832|REF_RGD_ID:30309204 8999998 Cd14 CD14 molecule gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1347263 D RGD:9068941 20200609 RGD PMID:20555320|REF_RGD_ID:7204130 8999998 Cd14 CD14 molecule gene DOID:0110861 autosomal recessive polycystic kidney disease severity ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:20555320|REF_RGD_ID:7204130 8999998 Cd14 CD14 molecule gene DOID:10487 Hirschsprung's disease ISO RGD:620588 D RGD:9068941 20200609 RGD protein:increased expression:intestine: PMID:15117676|REF_RGD_ID:7193054 8999998 Cd14 CD14 molecule gene DOID:10608 celiac disease ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP:promoter: PMID:18728522|REF_RGD_ID:2314152 8999998 Cd14 CD14 molecule gene DOID:10763 hypertension ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with Glomerulonephritis, IGA; DNA:polymorphism: :-159C>T (human) PMID:22072187|REF_RGD_ID:7204129 8999998 Cd14 CD14 molecule gene DOID:11335 sarcoidosis ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20430603|REF_RGD_ID:4144780 8999998 Cd14 CD14 molecule gene DOID:11335 sarcoidosis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:20430603|REF_RGD_ID:4144780 8999998 Cd14 CD14 molecule gene DOID:1205 allergic disease resistance ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:19222419|REF_RGD_ID:4144798 8999998 Cd14 CD14 molecule gene DOID:13189 gout ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26462562 8999998 Cd14 CD14 molecule gene DOID:13250 diarrhea ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21596674 8999998 Cd14 CD14 molecule gene DOID:13580 cholestasis ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:22511970|REF_RGD_ID:7183752 8999998 Cd14 CD14 molecule gene DOID:13603 obstructive jaundice ISO RGD:620588 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum, liver, lung, spleen PMID:25093541|REF_RGD_ID:9685190 8999998 Cd14 CD14 molecule gene DOID:13608 biliary atresia disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, plasma: PMID:21172039|REF_RGD_ID:7184431 8999998 Cd14 CD14 molecule gene DOID:1485 cystic fibrosis ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:Macrophages, Alveolar PMID:20302606|REF_RGD_ID:4144794 8999998 Cd14 CD14 molecule gene DOID:1485 cystic fibrosis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159 C>T PMID:19466271|REF_RGD_ID:4144796 8999998 Cd14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17607003 8999998 Cd14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19096003|REF_RGD_ID:4144228 8999998 Cd14 CD14 molecule gene DOID:2841 asthma ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16387800|REF_RGD_ID:4144813 8999998 Cd14 CD14 molecule gene DOID:2841 asthma no_association ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:15741437|REF_RGD_ID:4144815 8999998 Cd14 CD14 molecule gene DOID:2841 asthma severity ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -260C>T (human) PMID:15940135|REF_RGD_ID:4144814 8999998 Cd14 CD14 molecule gene DOID:2841 asthma severity ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human) PMID:16387800|REF_RGD_ID:4144813 8999998 Cd14 CD14 molecule gene DOID:2841 asthma susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:18312481|REF_RGD_ID:4144208 8999998 Cd14 CD14 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 8999998 Cd14 CD14 molecule gene DOID:2957 pulmonary tuberculosis ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:monocyte, serum PMID:18008256|REF_RGD_ID:4144205 8999998 Cd14 CD14 molecule gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:18008256|REF_RGD_ID:4144205 8999998 Cd14 CD14 molecule gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159C>T (human) PMID:12566518|REF_RGD_ID:7204499 8999998 Cd14 CD14 molecule gene DOID:3393 coronary artery disease no_association ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:SNP:promoter PMID:18157711|REF_RGD_ID:2314154 8999998 Cd14 CD14 molecule gene DOID:3407 carotid artery disease ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:SNP:promotor PMID:16873708|REF_RGD_ID:2314156 8999998 Cd14 CD14 molecule gene DOID:3407 carotid artery disease susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:polymorphism:promoter:c. -159C>T (human) PMID:15640605|REF_RGD_ID:7204441 8999998 Cd14 CD14 molecule gene DOID:4483 rhinitis resistance ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159c>T (human) PMID:16950285|REF_RGD_ID:4144810 8999998 Cd14 CD14 molecule gene DOID:4483 rhinitis susceptibility ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c. -159c>T (human) PMID:20109306|REF_RGD_ID:4144795 8999998 Cd14 CD14 molecule gene DOID:4989 pancreatitis ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:19201771|REF_RGD_ID:4144143 8999998 Cd14 CD14 molecule gene DOID:5082 liver cirrhosis ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20353583 8999998 Cd14 CD14 molecule gene DOID:5199 ureteral obstruction ISO RGD:733890 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:10966493|REF_RGD_ID:7204444 8999998 Cd14 CD14 molecule gene DOID:552 pneumonia ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:multiple PMID:20302606|REF_RGD_ID:4144794 8999998 Cd14 CD14 molecule gene DOID:5844 myocardial infarction ISO RGD:1347263 D RGD:9068941 20200609 RGD PMID:10195920|PMID:14587643|REF_RGD_ID:1580252|REF_RGD_ID:1580255 8999998 Cd14 CD14 molecule gene DOID:5844 myocardial infarction no_association ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease;DNA:SNP:promoter PMID:17436151|REF_RGD_ID:2314155 8999998 Cd14 CD14 molecule gene DOID:630 genetic disease ISO RGD:1347263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 8999998 Cd14 CD14 molecule gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 8999998 Cd14 CD14 molecule gene DOID:824 periodontitis ISO RGD:620588 D RGD:9068941 20200609 RGD protein:increased expression:monocyte, neutrophil: PMID:17565820|REF_RGD_ID:7191232 8999998 Cd14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:9068941 20200609 RGD acute lung injury PMID:15731076|REF_RGD_ID:4144789 8999998 Cd14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:9068941 20200609 RGD lung injury associated with Kidney Failure, Acute; mRNA:increased expression:lung PMID:18235097|REF_RGD_ID:4144782 8999998 Cd14 CD14 molecule gene DOID:850 lung disease ISO RGD:733890 D RGD:9068941 20200609 RGD lung injury associated with pancreatitis PMID:19201771|REF_RGD_ID:4144143 8999998 Cd14 CD14 molecule gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:small intestine PMID:19824106|REF_RGD_ID:4144091 8999998 Cd14 CD14 molecule gene DOID:8677 perinatal necrotizing enterocolitis disease_progression ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:19824106|REF_RGD_ID:4144091 8999998 Cd14 CD14 molecule gene DOID:874 bacterial pneumonia ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:16210672|REF_RGD_ID:4144197 8999998 Cd14 CD14 molecule gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:altered localization:kidney,urine PMID:20555320|REF_RGD_ID:7204130 8999998 Cd14 CD14 molecule gene DOID:9000528 Coronary Disease ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:10831941|REF_RGD_ID:2314175 8999998 Cd14 CD14 molecule gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1347263 D RGD:9068941 20200609 RGD associated with asthma; DNA:polymorphism:promoter:c. -159C>T (human) PMID:17196641|REF_RGD_ID:4144784 8999998 Cd14 CD14 molecule gene DOID:9000998 Brain Injuries ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 8999998 Cd14 CD14 molecule gene DOID:9001488 Human Influenza ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:17825924|REF_RGD_ID:4144809 8999998 Cd14 CD14 molecule gene DOID:9001981 Weight Loss ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28411859 8999998 Cd14 CD14 molecule gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:17185649|REF_RGD_ID:4144788 8999998 Cd14 CD14 molecule gene DOID:9002159 Liver Reperfusion Injury ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:22564590|REF_RGD_ID:7183676 8999998 Cd14 CD14 molecule gene DOID:9002676 Cerebral Hemorrhage ISO RGD:620588 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, intestine: PMID:19534684|REF_RGD_ID:7185660 8999998 Cd14 CD14 molecule gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 8999998 Cd14 CD14 molecule gene DOID:9004590 Acute Liver Failure ISO RGD:620588 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18070011|REF_RGD_ID:4144156 8999998 Cd14 CD14 molecule gene DOID:9005930 Endotoxemia ISO RGD:620588 D RGD:9068941 20200609 RGD protein:increased expression:liver, endothelial cell of sinusoid PMID:12046090|REF_RGD_ID:724637 8999998 Cd14 CD14 molecule gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:733890 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:10966493|REF_RGD_ID:7204444 8999998 Cd14 CD14 molecule gene DOID:9006647 Experimental Autoimmune Neuritis severity ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:19162137|REF_RGD_ID:2312712 8999998 Cd14 CD14 molecule gene DOID:9006928 Viral Bronchiolitis ISO RGD:1347263 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:c.-550C>T (human) PMID:17471431|REF_RGD_ID:4144210 8999998 Cd14 CD14 molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347263 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 8999998 Cd14 CD14 molecule gene DOID:9007356 Eczema ISO RGD:1347263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19759553 8999998 Cd14 CD14 molecule gene DOID:9007730 Burns ISO RGD:620588 D RGD:9068941 20200609 RGD PMID:12435950|REF_RGD_ID:2313390 8999998 Cd14 CD14 molecule gene DOID:9007730 Burns ISO RGD:620588 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple organs: PMID:11829837|REF_RGD_ID:7204443 8999998 Cd14 CD14 molecule gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:620588 D RGD:9068941 20200609 RGD protein:increased expression:heart, kidney, liver, lung PMID:22493902|REF_RGD_ID:9685194 8999998 Cd14 CD14 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347263 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:10831941|REF_RGD_ID:2314175 8999998 Cd14 CD14 molecule gene DOID:9744 type 1 diabetes mellitus ISO RGD:733890 D RGD:9068941 20200609 RGD PMID:14614560|REF_RGD_ID:2314173 9000006 Caly calcyon neuron specific vesicular protein gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1601759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 9000006 Caly calcyon neuron specific vesicular protein gene DOID:10825 essential hypertension ISO RGD:1601759 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 9000006 Caly calcyon neuron specific vesicular protein gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1601759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 9000006 Caly calcyon neuron specific vesicular protein gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1601759 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :rs4838721, rs2275723 (human) PMID:16172615|REF_RGD_ID:15092091 9000006 Caly calcyon neuron specific vesicular protein gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:621719 D RGD:9068941 20200609 RGD PMID:19690230|REF_RGD_ID:15092092 9000006 Caly calcyon neuron specific vesicular protein gene DOID:5419 schizophrenia ISO RGD:1601759 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16786528|REF_RGD_ID:15097510 9000006 Caly calcyon neuron specific vesicular protein gene DOID:5419 schizophrenia ISO RGD:1601759 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex PMID:12622665|REF_RGD_ID:15092089 9000006 Caly calcyon neuron specific vesicular protein gene DOID:630 genetic disease ISO RGD:1601759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000006 Caly calcyon neuron specific vesicular protein gene DOID:9006205 Animal Disease Models ISO RGD:1601759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 9000006 Caly calcyon neuron specific vesicular protein gene DOID:9008023 Memory Disorders ISO RGD:1601759 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30753204 9000017 Reep4 receptor accessory protein 4 gene DOID:630 genetic disease ISO RGD:1315250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000017 Reep4 receptor accessory protein 4 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1315250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 9000044 Akr1d1 aldo-keto reductase family 1 member D1 gene DOID:0050674 congenital bile acid synthesis defect ISO RGD:736637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 9000044 Akr1d1 aldo-keto reductase family 1 member D1 gene DOID:0111069 congenital bile acid synthesis defect 2 ISO RGD:736637 D RGD:7240710 20180130 OMIM 9000044 Akr1d1 aldo-keto reductase family 1 member D1 gene DOID:0111069 congenital bile acid synthesis defect 2 ISO RGD:736637 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2 PMID:12970144|PMID:15030995|PMID:16199547|PMID:18243262|PMID:19175828|PMID:20522910|PMID:21185810|PMID:23679950|PMID:25741868|PMID:28492532|PMID:30809085|PMID:31450232|PMID:8707100 9000044 Akr1d1 aldo-keto reductase family 1 member D1 gene DOID:2352 hemochromatosis ISO RGD:736637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18624455 9000044 Akr1d1 aldo-keto reductase family 1 member D1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9000044 Akr1d1 aldo-keto reductase family 1 member D1 gene DOID:630 genetic disease ISO RGD:736637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1348457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:0050476 Barth syndrome ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:0050700 cardiomyopathy ISO RGD:1557574 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:23619365|REF_RGD_ID:7495791 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:0060320 inguinal hernia ISO RGD:1348457 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:28492532 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1348457 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10986043|PMID:14560307|PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22476991|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1348457 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:1206 Rett syndrome ISO RGD:1348457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:15712379 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:12849 autistic disorder ISO RGD:1348457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:13628 favism ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:1561 cognitive disorder treatment ISO RGD:1563841 D RGD:9068941 20200609 RGD PMID:22277195|REF_RGD_ID:7495794 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:1348457 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.F196S (rs1059702) (human) PMID:21898345|REF_RGD_ID:7495782 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:1348457 D RGD:9068941 20200609 RGD PMID:24302991|REF_RGD_ID:7495785 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:2316 brain ischemia ISO RGD:1563841 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex PMID:21925238|REF_RGD_ID:7495802 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1348457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:3393 coronary artery disease ISO RGD:1348457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:607 paraplegia ISO RGD:1348457 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:630 genetic disease ISO RGD:1348457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1348457 D RGD:9068941 20200609 RGD DNA:SNP:enhancer: (rs3027898) (human) PMID:20500689|REF_RGD_ID:7495783 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1348457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:820 myocarditis ISO RGD:1557574 D RGD:9068941 20200609 RGD PMID:12860565|REF_RGD_ID:1582271 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:8893 psoriasis ISO RGD:1348457 D RGD:9068941 20200609 RGD PMID:23018031|REF_RGD_ID:7495784 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:9002720 Splenomegaly ISO RGD:1348457 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:1348457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21925238 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:9005091 Lentivirus Infections ISO RGD:1348457 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26937033 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1348457 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1563841 D RGD:9068941 20200609 RGD protein:increased activity:ventricle myocardium (rat) PMID:15793310|REF_RGD_ID:1579809 9000084 Irak1 interleukin 1 receptor associated kinase 1 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:1348457 D RGD:9068941 20200609 RGD DNA:SNP:enhancer: (rs3027898) (human) PMID:20500689|REF_RGD_ID:7495783 9000101 Tfec transcription factor EC gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735415 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9000101 Tfec transcription factor EC gene DOID:630 genetic disease ISO RGD:735415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000101 Tfec transcription factor EC gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735415 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9000121 Kremen2 kringle containing transmembrane protein 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9000121 Kremen2 kringle containing transmembrane protein 2 gene DOID:1826 epilepsy ISO RGD:1321902 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9000121 Kremen2 kringle containing transmembrane protein 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321902 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9000121 Kremen2 kringle containing transmembrane protein 2 gene DOID:3070 high grade glioma ISO RGD:1321902 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9000121 Kremen2 kringle containing transmembrane protein 2 gene DOID:630 genetic disease ISO RGD:1321902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000150 Mrps18a mitochondrial ribosomal protein S18A gene DOID:0050444 infantile Refsum disease ISO RGD:1346345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9000150 Mrps18a mitochondrial ribosomal protein S18A gene DOID:630 genetic disease ISO RGD:1346345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000150 Mrps18a mitochondrial ribosomal protein S18A gene DOID:905 Zellweger syndrome ISO RGD:1346345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9000172 Ccdc97 coiled-coil domain containing 97 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9000172 Ccdc97 coiled-coil domain containing 97 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9000172 Ccdc97 coiled-coil domain containing 97 gene DOID:2340 craniosynostosis ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 9000172 Ccdc97 coiled-coil domain containing 97 gene DOID:630 genetic disease ISO RGD:1602452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000172 Ccdc97 coiled-coil domain containing 97 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9000172 Ccdc97 coiled-coil domain containing 97 gene DOID:9269 maple syrup urine disease ISO RGD:1602452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9000197 Spata9 spermatogenesis associated 9 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1317981 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9000197 Spata9 spermatogenesis associated 9 gene DOID:630 genetic disease ISO RGD:1317981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000197 Spata9 spermatogenesis associated 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9000197 Spata9 spermatogenesis associated 9 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317981 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9000234 Ghrh growth hormone releasing hormone gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:22506635|REF_RGD_ID:10401267 9000234 Ghrh growth hormone releasing hormone gene DOID:0050848 obstructive sleep apnea ISO RGD:737566 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:16750036|REF_RGD_ID:5687742 9000234 Ghrh growth hormone releasing hormone gene DOID:0050848 obstructive sleep apnea treatment ISO RGD:62175 D RGD:9068941 20200609 RGD PMID:23815362|REF_RGD_ID:10401240 9000234 Ghrh growth hormone releasing hormone gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:62175 D RGD:9068941 20220825 MouseDO OMIM:262400 9000234 Ghrh growth hormone releasing hormone gene DOID:10286 prostate carcinoma ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate PMID:12364462|REF_RGD_ID:2289976 9000234 Ghrh growth hormone releasing hormone gene DOID:10652 Alzheimer's disease treatment ISO RGD:62175 D RGD:9068941 20200609 RGD PMID:23211425|REF_RGD_ID:10401233 9000234 Ghrh growth hormone releasing hormone gene DOID:11132 prostatic hypertrophy treatment ISO RGD:61883 D RGD:9068941 20200609 RGD PMID:21321192|PMID:22341819|REF_RGD_ID:10401238|REF_RGD_ID:10401264 9000234 Ghrh growth hormone releasing hormone gene DOID:11396 pulmonary edema ISO RGD:737566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22308467 9000234 Ghrh growth hormone releasing hormone gene DOID:1380 endometrial cancer ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:15784701|REF_RGD_ID:2301423 9000234 Ghrh growth hormone releasing hormone gene DOID:1380 endometrial cancer ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:expression in 17/22 specimens PMID:10022420|REF_RGD_ID:2289974 9000234 Ghrh growth hormone releasing hormone gene DOID:1612 breast cancer ISO RGD:737566 D RGD:9068941 20200609 RGD protein:increased expression:tumor:colloid, lobular, and infiltrating ductal carcinomas PMID:1973621|REF_RGD_ID:2289972 9000234 Ghrh growth hormone releasing hormone gene DOID:2234 focal epilepsy ISO RGD:737566 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9000234 Ghrh growth hormone releasing hormone gene DOID:2394 ovarian cancer ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:11710593|REF_RGD_ID:2301424 9000234 Ghrh growth hormone releasing hormone gene DOID:2394 ovarian cancer ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:11163834|REF_RGD_ID:2301425 9000234 Ghrh growth hormone releasing hormone gene DOID:2394 ovarian cancer ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:expression in 17/22 specimens PMID:10022420|REF_RGD_ID:2289974 9000234 Ghrh growth hormone releasing hormone gene DOID:289 endometriosis ISO RGD:737566 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:11163834|REF_RGD_ID:2301425 9000234 Ghrh growth hormone releasing hormone gene DOID:4450 renal cell carcinoma ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:10962030|REF_RGD_ID:2301426 9000234 Ghrh growth hormone releasing hormone gene DOID:535 sleep disorder ISO RGD:61883 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, multiple (rat) PMID:16859658|REF_RGD_ID:5687196 9000234 Ghrh growth hormone releasing hormone gene DOID:5844 myocardial infarction treatment ISO RGD:61883 D RGD:9068941 20200609 RGD PMID:24373935|REF_RGD_ID:10401242 9000234 Ghrh growth hormone releasing hormone gene DOID:630 genetic disease ISO RGD:737566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000234 Ghrh growth hormone releasing hormone gene DOID:9002234 Pituitary Neoplasms ISO RGD:737566 D RGD:9068941 20200609 RGD Adenoma; human gene in mouse model PMID:1425411|REF_RGD_ID:5687177 9000234 Ghrh growth hormone releasing hormone gene DOID:9002763 Experimental Autoimmune Encephalomyelitis resistance ISO RGD:62175 D RGD:9068941 20200609 RGD PMID:21846799|REF_RGD_ID:5687168 9000234 Ghrh growth hormone releasing hormone gene DOID:9002775 Cognitive Dysfunction treatment ISO RGD:737566 D RGD:9068941 20200609 RGD PMID:23689947|REF_RGD_ID:10401232 9000234 Ghrh growth hormone releasing hormone gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:61883 D RGD:9068941 20200609 RGD PMID:22393012|REF_RGD_ID:10401241 9000234 Ghrh growth hormone releasing hormone gene DOID:9007827 Upper Airway Obstruction ISO RGD:61883 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hypothalamus (rat) PMID:21406516|REF_RGD_ID:5687169 9000234 Ghrh growth hormone releasing hormone gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:737566 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:28492532 9000249 Afap1l2 actin filament associated protein 1 like 2 gene DOID:1749 squamous cell carcinoma ISO RGD:1321706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29059373 9000249 Afap1l2 actin filament associated protein 1 like 2 gene DOID:630 genetic disease ISO RGD:1321706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000249 Afap1l2 actin filament associated protein 1 like 2 gene DOID:9620 vesicoureteral reflux ISO RGD:1321706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:29351342 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1318101 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:10283 prostate cancer ISO RGD:1318101 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:prostate gland (human) PMID:24556744|REF_RGD_ID:9590161 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1206 Rett syndrome severity ISO RGD:1558610 D RGD:9068941 20200609 RGD PMID:20869373|REF_RGD_ID:9590158 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:1318101 D RGD:9068941 20200609 RGD DNA:missense mutation, deletion:cds:p.P529L, p.P1067del (human) PMID:23055267|REF_RGD_ID:9590163 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:12858 Huntington's disease ISO RGD:1318101 D RGD:9068941 20200609 RGD protein:increased expression:neocortex, caudate nucleus (human) PMID:17142323|REF_RGD_ID:9590159 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1324 lung cancer severity ISO RGD:1318101 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:23770855|REF_RGD_ID:9590160 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1790 malignant mesothelioma ISO RGD:1318101 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1909 melanoma ISO RGD:1318101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983785 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:1909 melanoma severity ISO RGD:1318101 D RGD:9068941 20200609 RGD protein:increased expression:dermis, subcutis, nucleus (human) PMID:24673285|REF_RGD_ID:9590162 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:3070 high grade glioma severity ISO RGD:1318101 D RGD:9068941 20200609 RGD protein:increased expression:brain, cell nucleus (human) PMID:23943221|REF_RGD_ID:9590166 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1318101 D RGD:9068941 20200609 RGD mRNA:increased expression:parietal cortex, lymphocyte (human) PMID:23815974|REF_RGD_ID:9590164 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1318101 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318101 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9000283 Setdb1 SET domain bifurcated histone lysine methyltransferase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1318101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1350844 D RGD:7240710 20180130 OMIM 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:0080156 X-linked adrenal hypoplasia congenita ISO RGD:1350844 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adrenal hypoplasia, congenital | ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked PMID:10210708|PMID:10361383|PMID:10522996|PMID:10599709|PMID:10675358|PMID:10848616|PMID:11113848|PMID:11443184|PMID:11549627|PMID:11738790|PMID:11748841|PMID:11748852|PMID:11788621|PMID:12519885|PMID:12629128|PMID:15841486|PMID:16459121|PMID:16684822|PMID:17164309|PMID:17504899|PMID:17576681|PMID:17587282|PMID:18339285|PMID:19672728|PMID:20573681|PMID:20685758|PMID:21029627|PMID:21408189|PMID:21739173|PMID:21925982|PMID:22761912|PMID:23018754|PMID:23384712|PMID:23512386|PMID:25741868|PMID:26467025|PMID:26500747|PMID:26980296|PMID:28492532|PMID:28546232|PMID:30620004|PMID:31263616|PMID:32482417|PMID:34193132|PMID:6891556|PMID:7609262|PMID:7990953|PMID:7990958|PMID:8636263|PMID:8855822|PMID:9003500|PMID:9063431|PMID:9195207|PMID:9360549|PMID:9415399|PMID:9529340|PMID:9536098 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:0111777 46,XY sex reversal 2 ISO RGD:1350844 D RGD:7240710 20180130 OMIM 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:0111777 46,XY sex reversal 2 ISO RGD:1350844 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 2 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive PMID:10599709|PMID:11748852|PMID:15841486|PMID:25741868|PMID:28492532|PMID:7990958|PMID:9486644|PMID:9529340 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1350844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:28492532|PMID:31705731 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:12849 autistic disorder ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:14228 oligospermia ISO RGD:1350844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23384712 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:1924 hypogonadism ISO RGD:1350844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7990958 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:630 genetic disease ISO RGD:1350844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:9003809 Isolated Mineralocorticoid Deficiency ISO RGD:1350844 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated PMID:17164309|PMID:25741868|PMID:28492532 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9000320 Nr0b1 nuclear receptor subfamily 0 group B member 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 9000326 Rap2a RAP2A, member of RAS oncogene family gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 9000326 Rap2a RAP2A, member of RAS oncogene family gene DOID:630 genetic disease ISO RGD:1348992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000326 Rap2a RAP2A, member of RAS oncogene family gene DOID:7148 rheumatoid arthritis ISO RGD:1348992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 9000326 Rap2a RAP2A, member of RAS oncogene family gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1348992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9000347 Parp2 poly(ADP-ribose) polymerase 2 gene DOID:630 genetic disease ISO RGD:1602134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000347 Parp2 poly(ADP-ribose) polymerase 2 gene DOID:811 lipodystrophy ISO RGD:1602134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21417348 9000347 Parp2 poly(ADP-ribose) polymerase 2 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1310568 D RGD:9068941 20200609 RGD PMID:25281201|REF_RGD_ID:13514043 9000373 Apoe apolipoprotein E gene DOID:0050639 primary cutaneous amyloidosis ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:9740234|REF_RGD_ID:7771598 9000373 Apoe apolipoprotein E gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:15007105|REF_RGD_ID:12904641 9000373 Apoe apolipoprotein E gene DOID:0050851 glomerulosclerosis ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:21907828|REF_RGD_ID:6903285 9000373 Apoe apolipoprotein E gene DOID:0050851 glomerulosclerosis ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:renal glomerulus (rat) PMID:22207560|REF_RGD_ID:6903199 9000373 Apoe apolipoprotein E gene DOID:0080158 herpes simplex virus keratitis treatment ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:18515564|REF_RGD_ID:7771550 9000373 Apoe apolipoprotein E gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:21184788|REF_RGD_ID:6904141 9000373 Apoe apolipoprotein E gene DOID:0080665 warfarin resistance ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Coumarin resistance PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16103896|PMID:16143024|PMID:17289397|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19667110|PMID:19846850|PMID:20031551|PMID:20031582|PMID:21742527|PMID:22381401|PMID:22992668|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:2992507|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:6300187|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9649566|PMID:9932938 9000373 Apoe apolipoprotein E gene DOID:0080666 warfarin sensitivity ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Warfarin sensitivity PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16103896|PMID:16143024|PMID:17289397|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19667110|PMID:19846850|PMID:20031551|PMID:20031582|PMID:21742527|PMID:22381401|PMID:22992668|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:2992507|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:6300187|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9649566|PMID:9932938 9000373 Apoe apolipoprotein E gene DOID:0110014 age related macular degeneration 1 ISO RGD:736378 D RGD:7240710 20240320 OMIM 9000373 Apoe apolipoprotein E gene DOID:0110014 age related macular degeneration 1 ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1 PMID:22949395|PMID:24126160|PMID:25741868|PMID:28492532|PMID:32808727|PMID:35120450|PMID:35628605|PMID:35639372|PMID:8488843|PMID:9279208|PMID:9360638 9000373 Apoe apolipoprotein E gene DOID:0110035 Alzheimer's disease 2 ISO RGD:736378 D RGD:7240710 20240320 OMIM 9000373 Apoe apolipoprotein E gene DOID:0110035 Alzheimer's disease 2 ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Alzheimer disease 2 | ClinVar Annotator: match by term: Alzheimer disease associated with APOE E4 | ClinVar Annotator: match by term: Late-onset familial alzheimer disease PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:22949395|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:24126160|PMID:25741868|PMID:27260402|PMID:28492532|PMID:29842932|PMID:2987927|PMID:32376954|PMID:32808727|PMID:3353383|PMID:35120450|PMID:35628605|PMID:35639372|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8488843|PMID:8618665|PMID:8644717|PMID:9279208|PMID:9343467|PMID:9360638|PMID:9932938 9000373 Apoe apolipoprotein E gene DOID:0110040 Alzheimer's disease 4 ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 PMID:10213152|PMID:10213549|PMID:10799751|PMID:11068149|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16621646|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:22949395|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:24082139|PMID:24126160|PMID:24644280|PMID:25741868|PMID:26802169|PMID:27260402|PMID:28492532|PMID:29842932|PMID:2987927|PMID:32058863|PMID:32376954|PMID:32808727|PMID:3353383|PMID:35120450|PMID:35628605|PMID:35639372|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8488843|PMID:8618665|PMID:8644717|PMID:9279208|PMID:9343467|PMID:9360638|PMID:9932938 9000373 Apoe apolipoprotein E gene DOID:0110042 Alzheimer's disease 3 ISO RGD:736378 D RGD:7240710 20240320 OMIM 9000373 Apoe apolipoprotein E gene DOID:0110042 Alzheimer's disease 3 ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 PMID:10432380|PMID:10529625|PMID:18077821|PMID:22949395|PMID:24126160|PMID:25741868|PMID:28492532|PMID:32808727|PMID:35120450|PMID:35628605|PMID:35639372|PMID:8488843|PMID:9279208|PMID:9360638 9000373 Apoe apolipoprotein E gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17454231|REF_RGD_ID:7771593 9000373 Apoe apolipoprotein E gene DOID:10211 cholelithiasis susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs440446 (human) PMID:18296645|REF_RGD_ID:2317550 9000373 Apoe apolipoprotein E gene DOID:10230 aortic atherosclerosis ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:29459263|REF_RGD_ID:13703129 9000373 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 9000373 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-491A>T,-427T>C(human) PMID:18057979|REF_RGD_ID:7771594 9000373 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP: :APOEe4(human) PMID:20574532|REF_RGD_ID:10427727 9000373 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R, (rs7412) (human) PMID:10027549|REF_RGD_ID:6903233 9000373 Apoe apolipoprotein E gene DOID:10652 Alzheimer's disease treatment ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:20088507|REF_RGD_ID:12904712 9000373 Apoe apolipoprotein E gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:16110302|REF_RGD_ID:7495786 9000373 Apoe apolipoprotein E gene DOID:1070 primary open angle glaucoma no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter: PMID:15525904|REF_RGD_ID:7495787 9000373 Apoe apolipoprotein E gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17706090|REF_RGD_ID:7771556 9000373 Apoe apolipoprotein E gene DOID:1074 kidney failure ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842518 9000373 Apoe apolipoprotein E gene DOID:10763 hypertension ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404|PMID:22228705 9000373 Apoe apolipoprotein E gene DOID:10763 hypertension onset ISO RGD:2138 D RGD:9068941 20200609 RGD mRNA:decreased expression:multiple (rat) PMID:20585107|REF_RGD_ID:6904214 9000373 Apoe apolipoprotein E gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:16079201|REF_RGD_ID:7775015 9000373 Apoe apolipoprotein E gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:9512153|REF_RGD_ID:7495762 9000373 Apoe apolipoprotein E gene DOID:10976 membranous glomerulonephritis ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:22785171|REF_RGD_ID:6903854 9000373 Apoe apolipoprotein E gene DOID:11446 sciatic neuropathy ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve: PMID:2493483|REF_RGD_ID:7495790 9000373 Apoe apolipoprotein E gene DOID:1168 familial hyperlipidemia ISO RGD:2138 D RGD:9068941 20211112 RGD PMID:29459263|PMID:30796231|REF_RGD_ID:13703129|REF_RGD_ID:150521536 9000373 Apoe apolipoprotein E gene DOID:1168 familial hyperlipidemia ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11947894|PMID:12871831|PMID:20530721|PMID:20937366 9000373 Apoe apolipoprotein E gene DOID:1168 familial hyperlipidemia treatment ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:22762542|REF_RGD_ID:6903856 9000373 Apoe apolipoprotein E gene DOID:1184 nephrotic syndrome ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:2381443|REF_RGD_ID:12904707 9000373 Apoe apolipoprotein E gene DOID:12217 Lewy body dementia ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:21907175|REF_RGD_ID:7771591 9000373 Apoe apolipoprotein E gene DOID:12241 beta thalassemia ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:22705320|REF_RGD_ID:11039491 9000373 Apoe apolipoprotein E gene DOID:12365 malaria ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.C112R, p.C158R (human) PMID:24116184|REF_RGD_ID:11039486 9000373 Apoe apolipoprotein E gene DOID:1287 cardiovascular system disease ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 9000373 Apoe apolipoprotein E gene DOID:12894 Sjogren's syndrome onset ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:15328426|REF_RGD_ID:7495765 9000373 Apoe apolipoprotein E gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:16714771|REF_RGD_ID:1601240 9000373 Apoe apolipoprotein E gene DOID:13001 carotid stenosis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17243563 9000373 Apoe apolipoprotein E gene DOID:13544 low tension glaucoma susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:16778644|REF_RGD_ID:7495800 9000373 Apoe apolipoprotein E gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:17706090|REF_RGD_ID:7771556 9000373 Apoe apolipoprotein E gene DOID:13580 cholestasis ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms;protein:increased expression:plasma PMID:19055369|REF_RGD_ID:2317548 9000373 Apoe apolipoprotein E gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:15939044|REF_RGD_ID:7771555 9000373 Apoe apolipoprotein E gene DOID:13809 familial combined hyperlipidemia ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) PMID:12915220|PMID:17127808|REF_RGD_ID:1578481|REF_RGD_ID:1601231 9000373 Apoe apolipoprotein E gene DOID:13810 familial hypercholesterolemia ISO RGD:736378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 9000373 Apoe apolipoprotein E gene DOID:14330 Parkinson's disease ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:21907175|REF_RGD_ID:7771591 9000373 Apoe apolipoprotein E gene DOID:1459 hypothyroidism ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:plasma, high-density lipoprotein particle (rat) PMID:6816881|REF_RGD_ID:12904658 9000373 Apoe apolipoprotein E gene DOID:1561 cognitive disorder ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18239197 9000373 Apoe apolipoprotein E gene DOID:1612 breast cancer no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymprphism:exon: PMID:16752225|REF_RGD_ID:7771592 9000373 Apoe apolipoprotein E gene DOID:1612 breast cancer susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:15830139|REF_RGD_ID:7495789 9000373 Apoe apolipoprotein E gene DOID:1793 pancreatic cancer ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:16215274|REF_RGD_ID:2317552 9000373 Apoe apolipoprotein E gene DOID:1920 hyperuricemia susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human) PMID:15713714|REF_RGD_ID:1601235 9000373 Apoe apolipoprotein E gene DOID:1936 atherosclerosis ISO RGD:2138 D RGD:9068941 20211112 RGD PMID:30796231|REF_RGD_ID:150521536 9000373 Apoe apolipoprotein E gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:1411543|REF_RGD_ID:734968 9000373 Apoe apolipoprotein E gene DOID:1936 atherosclerosis ISO RGD:736378 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:11095717|PMID:11231916|PMID:11947894|PMID:12871831|PMID:14594625|PMID:16020748|PMID:16303615|PMID:17438151|PMID:18093987|PMID:18269830|PMID:19124646|PMID:19682479|PMID:20093625|PMID:21043830|PMID:21512104|PMID:21908651|PMID:22005275|PMID:22022523|PMID:22228805|PMID:23148895|PMID:23639522|PMID:24017971|PMID:24096154|PMID:24330719|PMID:25020133|PMID:28483571|PMID:30376133|PMID:33861588|PMID:34673409|PMID:9169506|PMID:9409251|PMID:9649566 9000373 Apoe apolipoprotein E gene DOID:1936 atherosclerosis treatment ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:7593602|REF_RGD_ID:7771549 9000373 Apoe apolipoprotein E gene DOID:2030 anxiety disorder ISO RGD:736378 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32057829 9000373 Apoe apolipoprotein E gene DOID:224 transient cerebral ischemia ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:19623195|REF_RGD_ID:6903926 9000373 Apoe apolipoprotein E gene DOID:2349 arteriosclerosis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17118406|PMID:18287887 9000373 Apoe apolipoprotein E gene DOID:2377 multiple sclerosis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15048896 9000373 Apoe apolipoprotein E gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:736378 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:15096402|PMID:34624384 9000373 Apoe apolipoprotein E gene DOID:2921 glomerulonephritis ISO RGD:733604 D RGD:9068941 20200609 RGD Apoe(-/-) Id3(-/-) double knockout PMID:21801865|REF_RGD_ID:6903286 9000373 Apoe apolipoprotein E gene DOID:299 adenocarcinoma ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20430468 9000373 Apoe apolipoprotein E gene DOID:3121 gallbladder cancer susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs440446 (human) PMID:18296645|REF_RGD_ID:2317550 9000373 Apoe apolipoprotein E gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736378 D RGD:7240710 20240320 OMIM 9000373 Apoe apolipoprotein E gene DOID:3145 hyperlipoproteinemia type III ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: APOE5 VARIANT | ClinVar Annotator: match by term: Coronary artery disease, severe, susceptibility to | ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar Annotator: match by term: Floating-betalipoproteinemia | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) PMID:10587578|PMID:11500500|PMID:12774036|PMID:1356443|PMID:1360898|PMID:1361196|PMID:15096402|PMID:15256764|PMID:16103896|PMID:16143024|PMID:16690468|PMID:1713245|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:2101409|PMID:22069485|PMID:22949395|PMID:22992668|PMID:24126160|PMID:24239320|PMID:24507774|PMID:25502880|PMID:2556398|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3029073|PMID:3038959|PMID:3243553|PMID:32808727|PMID:33116287|PMID:35120450|PMID:35628605|PMID:35639372|PMID:3721502|PMID:3745433|PMID:3771793|PMID:6300187|PMID:6795720|PMID:7175379|PMID:7635945|PMID:7735921|PMID:8488843|PMID:9157949|PMID:9176854|PMID:9279208|PMID:9360638|PMID:9649566 9000373 Apoe apolipoprotein E gene DOID:3310 atopic dermatitis ISO RGD:736378 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19116453|REF_RGD_ID:11040546 9000373 Apoe apolipoprotein E gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) PMID:8899655|REF_RGD_ID:12880359 9000373 Apoe apolipoprotein E gene DOID:3393 coronary artery disease ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:28808185|REF_RGD_ID:13703132 9000373 Apoe apolipoprotein E gene DOID:3393 coronary artery disease ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.C112R (human) PMID:12860263|REF_RGD_ID:1578449 9000373 Apoe apolipoprotein E gene DOID:3393 coronary artery disease ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;DNA:SNP:promoter:-219G>T (human) PMID:15059615|REF_RGD_ID:1626412 9000373 Apoe apolipoprotein E gene DOID:3393 coronary artery disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:snp, missense mutation:promoter, cds:g.-219G>T, p.C112R (human) PMID:14563588|REF_RGD_ID:1580039 9000373 Apoe apolipoprotein E gene DOID:3407 carotid artery disease ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18022660 9000373 Apoe apolipoprotein E gene DOID:3525 middle cerebral artery infarction ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:19623195|REF_RGD_ID:6903926 9000373 Apoe apolipoprotein E gene DOID:3526 cerebral infarction susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism: :3932T>C (human) PMID:17016617|REF_RGD_ID:1601237 9000373 Apoe apolipoprotein E gene DOID:3905 lung carcinoma ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:24175756|REF_RGD_ID:11040551 9000373 Apoe apolipoprotein E gene DOID:4423 sea-blue histiocytosis ISO RGD:736378 D RGD:7240710 20240320 OMIM 9000373 Apoe apolipoprotein E gene DOID:4423 sea-blue histiocytosis ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis PMID:22949395|PMID:24126160|PMID:25741868|PMID:28492532|PMID:32808727|PMID:35120450|PMID:35628605|PMID:35639372|PMID:8488843|PMID:9279208|PMID:9360638 9000373 Apoe apolipoprotein E gene DOID:4448 macular degeneration ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16453339 9000373 Apoe apolipoprotein E gene DOID:4448 macular degeneration ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:16079201|REF_RGD_ID:7775015 9000373 Apoe apolipoprotein E gene DOID:4448 macular degeneration no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:10859513|REF_RGD_ID:7771552 9000373 Apoe apolipoprotein E gene DOID:4448 macular degeneration susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:haplotype:cds: PMID:19384966|REF_RGD_ID:7771587 9000373 Apoe apolipoprotein E gene DOID:4448 macular degeneration susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:12567264|REF_RGD_ID:7495761 9000373 Apoe apolipoprotein E gene DOID:4606 bile duct cancer susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs440446 (human) PMID:18296645|REF_RGD_ID:2317550 9000373 Apoe apolipoprotein E gene DOID:5419 schizophrenia ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 9000373 Apoe apolipoprotein E gene DOID:5679 retinal disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:17562993|REF_RGD_ID:7495760 9000373 Apoe apolipoprotein E gene DOID:576 proteinuria ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20842518 9000373 Apoe apolipoprotein E gene DOID:5844 myocardial infarction ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10587578 9000373 Apoe apolipoprotein E gene DOID:5844 myocardial infarction ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.C158R (human) PMID:10090925|REF_RGD_ID:10449412 9000373 Apoe apolipoprotein E gene DOID:5844 myocardial infarction susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) PMID:17217375|REF_RGD_ID:1601229 9000373 Apoe apolipoprotein E gene DOID:6000 congestive heart failure ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia PMID:9787187|REF_RGD_ID:11039487 9000373 Apoe apolipoprotein E gene DOID:630 genetic disease ISO RGD:736378 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30420299|PMID:33761857 9000373 Apoe apolipoprotein E gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:17376122|REF_RGD_ID:1601227 9000373 Apoe apolipoprotein E gene DOID:684 hepatocellular carcinoma ISO RGD:733604 D RGD:9068941 20200609 RGD protein:increased expression:liver, serum (mouse) PMID:21644509|REF_RGD_ID:6903288 9000373 Apoe apolipoprotein E gene DOID:7693 abdominal aortic aneurysm ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:10841519|REF_RGD_ID:6903247 9000373 Apoe apolipoprotein E gene DOID:7693 abdominal aortic aneurysm disease_progression ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R (rs7412), p.R158C (rs429358) (human) PMID:10848855|REF_RGD_ID:1578483 9000373 Apoe apolipoprotein E gene DOID:783 end stage renal disease ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:21705678|REF_RGD_ID:6903287 9000373 Apoe apolipoprotein E gene DOID:783 end stage renal disease ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21332332|REF_RGD_ID:6904217 9000373 Apoe apolipoprotein E gene DOID:8566 herpes simplex ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:17101197|REF_RGD_ID:7771596 9000373 Apoe apolipoprotein E gene DOID:8893 psoriasis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16433808 9000373 Apoe apolipoprotein E gene DOID:8893 psoriasis susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:SNP: :3937C>T(human) PMID:16433808|REF_RGD_ID:7495788 9000373 Apoe apolipoprotein E gene DOID:8893 psoriasis susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:19499236|REF_RGD_ID:7771595 9000373 Apoe apolipoprotein E gene DOID:893 Wilson disease ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10686180 9000373 Apoe apolipoprotein E gene DOID:8947 diabetic retinopathy no_association ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:11495633|REF_RGD_ID:7771553 9000373 Apoe apolipoprotein E gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Diabetic Mellitus type 2;DNA:polymorphism:exon: PMID:16862278|REF_RGD_ID:7771557 9000373 Apoe apolipoprotein E gene DOID:9000039 Spinal Cord Injuries ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:30036659|REF_RGD_ID:13703128 9000373 Apoe apolipoprotein E gene DOID:9000039 Spinal Cord Injuries ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:18581664|REF_RGD_ID:7771551 9000373 Apoe apolipoprotein E gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:736378 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:17438151|PMID:18093987|PMID:19124646|PMID:20720404|PMID:22770994|PMID:22869926|PMID:24330719|PMID:24933211|PMID:29355567|PMID:29425287|PMID:30376133|PMID:30533443|PMID:32081687|PMID:32853627|PMID:34862716|PMID:35022635 9000373 Apoe apolipoprotein E gene DOID:9000185 Coumarin Sensitivity ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:16103896|PMID:16143024|PMID:17289397|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19667110|PMID:19846850|PMID:20031551|PMID:20031582|PMID:21742527|PMID:22381401|PMID:22992668|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:2992507|PMID:32376954|PMID:3243553|PMID:3353383|PMID:3922972|PMID:6300187|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9649566|PMID:9932938 9000373 Apoe apolipoprotein E gene DOID:9000352 Vascular System Injuries ISO RGD:2138 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:21416056|REF_RGD_ID:5509868 9000373 Apoe apolipoprotein E gene DOID:9000352 Vascular System Injuries ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:21163611|REF_RGD_ID:6904145 9000373 Apoe apolipoprotein E gene DOID:9000412 Presenile and Senile Dementia ISO RGD:736378 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Presenile and senile dementia PMID:10213549|PMID:10799751|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:21742527|PMID:22381401|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:25741868|PMID:27260402|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3353383|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8618665|PMID:8644717|PMID:9343467|PMID:9932938 9000373 Apoe apolipoprotein E gene DOID:9000528 Coronary Disease ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10736278 9000373 Apoe apolipoprotein E gene DOID:9000528 Coronary Disease onset ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:promoter, cds:g.-219G>T, p.C112R, p.R158C (human) PMID:11862316|REF_RGD_ID:1578479 9000373 Apoe apolipoprotein E gene DOID:9000784 Fibrosis ISO RGD:736378 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:32081687 9000373 Apoe apolipoprotein E gene DOID:9000808 Hypercholesterolemia ISO RGD:736378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia PMID:16103896|PMID:16143024|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:22992668|PMID:25741868|PMID:2992507|PMID:3243553|PMID:6300187|PMID:9649566 9000373 Apoe apolipoprotein E gene DOID:9000808 Hypercholesterolemia severity ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; DNA:missense mutations, haplotype:cds:p.C130R, p.C176R (human) PMID:21357213|REF_RGD_ID:6903838 9000373 Apoe apolipoprotein E gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) PMID:17217375|REF_RGD_ID:1601229 9000373 Apoe apolipoprotein E gene DOID:9000918 Disease Progression ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24473795 9000373 Apoe apolipoprotein E gene DOID:9000936 Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dysbetalipoproteinemia due to defect in apolipoprotein e-d PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22949395|PMID:22992668|PMID:24126160|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:32808727|PMID:33116287|PMID:35120450|PMID:35628605|PMID:35639372|PMID:3745433|PMID:6300187|PMID:7735921|PMID:8488843|PMID:9157949|PMID:9279208|PMID:9360638|PMID:9649566 9000373 Apoe apolipoprotein E gene DOID:9000965 Neoplasm Metastasis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:22469977|REF_RGD_ID:7771597 9000373 Apoe apolipoprotein E gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:sciatic nerve (rat) PMID:2419900|REF_RGD_ID:6906875 9000373 Apoe apolipoprotein E gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:736378 D RGD:9068941 20200609 RGD mouse model treated with human peptide PMID:20406857|REF_RGD_ID:6906874 9000373 Apoe apolipoprotein E gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:15077085|REF_RGD_ID:11039488 9000373 Apoe apolipoprotein E gene DOID:9002165 Diabetic Nephropathies ISO RGD:733604 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22859852|REF_RGD_ID:6902935 9000373 Apoe apolipoprotein E gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 1; PMID:11495633|REF_RGD_ID:7771553 9000373 Apoe apolipoprotein E gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R, p.R158C (human) PMID:21127830|REF_RGD_ID:6903840 9000373 Apoe apolipoprotein E gene DOID:9002208 Familial Hyperbeta- and Prebetalipoproteinemia ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial hyperbeta- and prebetalipoproteinemia PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22949395|PMID:22992668|PMID:24126160|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:32808727|PMID:33116287|PMID:35120450|PMID:35628605|PMID:35639372|PMID:3745433|PMID:6300187|PMID:7735921|PMID:8488843|PMID:9157949|PMID:9279208|PMID:9360638|PMID:9649566 9000373 Apoe apolipoprotein E gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia disease_progression ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:18784741|REF_RGD_ID:11040549 9000373 Apoe apolipoprotein E gene DOID:9002231 Fetal Growth Retardation ISO RGD:2138 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:19923365|REF_RGD_ID:4891147 9000373 Apoe apolipoprotein E gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:736378 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32057829 9000373 Apoe apolipoprotein E gene DOID:9002676 Cerebral Hemorrhage ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotype:cds:p.C112R (rs7412) (human) PMID:19251191|REF_RGD_ID:6904207 9000373 Apoe apolipoprotein E gene DOID:9002720 Splenomegaly ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095479 9000373 Apoe apolipoprotein E gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:28578430|REF_RGD_ID:13703134 9000373 Apoe apolipoprotein E gene DOID:9002775 Cognitive Dysfunction susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:12231459|REF_RGD_ID:7495797 9000373 Apoe apolipoprotein E gene DOID:9002822 Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22949395|PMID:22992668|PMID:24126160|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:32808727|PMID:33116287|PMID:35120450|PMID:35628605|PMID:35639372|PMID:3745433|PMID:6300187|PMID:7735921|PMID:8488843|PMID:9157949|PMID:9279208|PMID:9360638|PMID:9649566 9000373 Apoe apolipoprotein E gene DOID:9002884 Emphysema ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24096154 9000373 Apoe apolipoprotein E gene DOID:9002955 Nerve Degeneration ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19522546 9000373 Apoe apolipoprotein E gene DOID:9003065 Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia ISO RGD:736378 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism 9000373 Apoe apolipoprotein E gene DOID:9003281 Spontaneous Abortions ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22266326 9000373 Apoe apolipoprotein E gene DOID:9003370 Dyslipidemias ISO RGD:736378 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dyslipidemia 9000373 Apoe apolipoprotein E gene DOID:9003468 Apolipoprotein E, Deficiency or Defect of ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Apolipoprotein e, deficiency or defect of PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22949395|PMID:22992668|PMID:24126160|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:32808727|PMID:33116287|PMID:35120450|PMID:35628605|PMID:35639372|PMID:3745433|PMID:6300187|PMID:7735921|PMID:8488843|PMID:9157949|PMID:9279208|PMID:9360638|PMID:9649566 9000373 Apoe apolipoprotein E gene DOID:9003556 Floating-Betalipoproteinemia ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Floating-betalipoproteinemia PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22949395|PMID:22992668|PMID:24126160|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:32808727|PMID:33116287|PMID:35120450|PMID:35628605|PMID:35639372|PMID:3745433|PMID:6300187|PMID:7735921|PMID:8488843|PMID:9157949|PMID:9279208|PMID:9360638|PMID:9649566 9000373 Apoe apolipoprotein E gene DOID:9003709 Mercury Poisoning ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16891999 9000373 Apoe apolipoprotein E gene DOID:9003828 Klebsiella Infections severity ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:10998083|REF_RGD_ID:11039489 9000373 Apoe apolipoprotein E gene DOID:9003870 Herpes Simplex Encephalitis susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:11118260|REF_RGD_ID:7771554 9000373 Apoe apolipoprotein E gene DOID:9003871 Venous Thrombosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:22119245|REF_RGD_ID:6903200 9000373 Apoe apolipoprotein E gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:12143056|REF_RGD_ID:7495764 9000373 Apoe apolipoprotein E gene DOID:9004538 Hearing Loss ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19738398 9000373 Apoe apolipoprotein E gene DOID:9004769 Broad-Betalipoproteinemia ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Broad beta disease | ClinVar Annotator: match by term: Broad-betalipoproteinemia PMID:11500500|PMID:16103896|PMID:16143024|PMID:16690468|PMID:17289397|PMID:19667110|PMID:20031551|PMID:20031582|PMID:20981092|PMID:22069485|PMID:22949395|PMID:22992668|PMID:24126160|PMID:24239320|PMID:24507774|PMID:25502880|PMID:25741868|PMID:26377243|PMID:26802169|PMID:28492532|PMID:28559539|PMID:2992507|PMID:3243553|PMID:32808727|PMID:33116287|PMID:35120450|PMID:35628605|PMID:35639372|PMID:3745433|PMID:6300187|PMID:7735921|PMID:8488843|PMID:9157949|PMID:9279208|PMID:9360638|PMID:9649566 9000373 Apoe apolipoprotein E gene DOID:9005172 Lung Neoplasms ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19180532|PMID:20430468 9000373 Apoe apolipoprotein E gene DOID:9005179 Chronic Brain Injury susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: PMID:9214529|REF_RGD_ID:7495763 9000373 Apoe apolipoprotein E gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:22469977|REF_RGD_ID:7771597 9000373 Apoe apolipoprotein E gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 9000373 Apoe apolipoprotein E gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2138 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (rat) PMID:16947119|REF_RGD_ID:1599198 9000373 Apoe apolipoprotein E gene DOID:9005930 Endotoxemia ISO RGD:736378 D RGD:9068941 20200609 RGD rat model treated with human protein PMID:9153287|REF_RGD_ID:6904216 9000373 Apoe apolipoprotein E gene DOID:9006599 Hypertriglyceridemia ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:28808185|REF_RGD_ID:13703132 9000373 Apoe apolipoprotein E gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human) PMID:15713714|REF_RGD_ID:1601235 9000373 Apoe apolipoprotein E gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:8413767|REF_RGD_ID:11040583 9000373 Apoe apolipoprotein E gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-219G>T (human) PMID:17006673|REF_RGD_ID:1601238 9000373 Apoe apolipoprotein E gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942 9000373 Apoe apolipoprotein E gene DOID:9007479 Habitual Abortions ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:19086990|REF_RGD_ID:11039490 9000373 Apoe apolipoprotein E gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2138 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, synapse PMID:28620701|REF_RGD_ID:13703133 9000373 Apoe apolipoprotein E gene DOID:9007973 Genetic Translocation ISO RGD:736378 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34670124 9000373 Apoe apolipoprotein E gene DOID:9008023 Memory Disorders ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:8584214|REF_RGD_ID:12904706 9000373 Apoe apolipoprotein E gene DOID:9008023 Memory Disorders ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) PMID:11714102|REF_RGD_ID:1578426 9000373 Apoe apolipoprotein E gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:736378 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.C112R, p.R158C (human) PMID:20961200|REF_RGD_ID:14401585 9000373 Apoe apolipoprotein E gene DOID:9008549 Lipoprotein Glomerulopathy ISO RGD:736378 D RGD:7240710 20240320 OMIM 9000373 Apoe apolipoprotein E gene DOID:9008549 Lipoprotein Glomerulopathy ISO RGD:736378 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Lipoprotein glomerulopathy PMID:10213549|PMID:10432380|PMID:10529625|PMID:10799751|PMID:10903326|PMID:11835377|PMID:11940689|PMID:11940706|PMID:14741101|PMID:15048896|PMID:15146461|PMID:15184602|PMID:15256764|PMID:15326261|PMID:15557508|PMID:15668424|PMID:18077821|PMID:18338393|PMID:18979180|PMID:18987351|PMID:19605830|PMID:19846850|PMID:2101409|PMID:21742527|PMID:22381401|PMID:22949395|PMID:23060451|PMID:23296339|PMID:23571587|PMID:24033266|PMID:24126160|PMID:25741868|PMID:27260402|PMID:28492532|PMID:29842932|PMID:2987927|PMID:32376954|PMID:3243553|PMID:32808727|PMID:3353383|PMID:35120450|PMID:35628605|PMID:35639372|PMID:3922972|PMID:7263700|PMID:8294487|PMID:8346443|PMID:8350998|PMID:8488843|PMID:8618665|PMID:8644717|PMID:9176854|PMID:9279208|PMID:9343467|PMID:9360638|PMID:9932938 9000373 Apoe apolipoprotein E gene DOID:9008808 Pregnancy Complications, Infectious treatment ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:22341339|REF_RGD_ID:12904700 9000373 Apoe apolipoprotein E gene DOID:9120 amyloidosis ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15993987 9000373 Apoe apolipoprotein E gene DOID:9246 cerebral amyloid angiopathy ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11061249 9000373 Apoe apolipoprotein E gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:22762542|REF_RGD_ID:6903856 9000373 Apoe apolipoprotein E gene DOID:9351 diabetes mellitus treatment ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:17192461|REF_RGD_ID:1601230 9000373 Apoe apolipoprotein E gene DOID:9352 type 2 diabetes mellitus ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:18950899|REF_RGD_ID:2317556 9000373 Apoe apolipoprotein E gene DOID:9452 steatotic liver disease ISO RGD:2138 D RGD:9068941 20200609 RGD PMID:29459263|REF_RGD_ID:13703129 9000373 Apoe apolipoprotein E gene DOID:9452 steatotic liver disease ISO RGD:736378 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:32853627 9000373 Apoe apolipoprotein E gene DOID:9538 multiple myeloma treatment ISO RGD:736378 D RGD:9068941 20200609 RGD PMID:22348216|REF_RGD_ID:11040544 9000373 Apoe apolipoprotein E gene DOID:9744 type 1 diabetes mellitus ISO RGD:736378 D RGD:9068941 20200609 RGD protein:decreased expression:urine (human) PMID:22678621|REF_RGD_ID:6903197 9000373 Apoe apolipoprotein E gene DOID:9970 obesity ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:17192461|REF_RGD_ID:1601230 9000373 Apoe apolipoprotein E gene DOID:9970 obesity ISO RGD:736378 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20975297 9000373 Apoe apolipoprotein E gene DOID:9970 obesity ISO RGD:736378 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9002300|REF_RGD_ID:1601191 9000382 Cntnap1 contactin associated protein 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:734159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 9000382 Cntnap1 contactin associated protein 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:734159 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:25326635|PMID:25741868|PMID:28374019|PMID:32214227 9000382 Cntnap1 contactin associated protein 1 gene DOID:630 genetic disease ISO RGD:734159 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27668699|PMID:28492532|PMID:29882456|PMID:31395954 9000382 Cntnap1 contactin associated protein 1 gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:734159 D RGD:7240710 20180130 OMIM 9000382 Cntnap1 contactin associated protein 1 gene DOID:9000854 Lethal Congenital Contracture Syndrome 7 ISO RGD:734159 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 PMID:24319099|PMID:25741868|PMID:27668699|PMID:27818385|PMID:28254648|PMID:28374019|PMID:28492532|PMID:29882456|PMID:30686628|PMID:30919572|PMID:31395954|PMID:31397905|PMID:32328110|PMID:34645488|PMID:34930662 9000382 Cntnap1 contactin associated protein 1 gene DOID:9003308 Congenital Hypomyelinating Neuropathy 3 ISO RGD:734159 D RGD:7240710 20190315 OMIM 9000382 Cntnap1 contactin associated protein 1 gene DOID:9003308 Congenital Hypomyelinating Neuropathy 3 ISO RGD:734159 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 3 PMID:24319099|PMID:25326635|PMID:25741868|PMID:27668699|PMID:27782105|PMID:27818385|PMID:28374019|PMID:28492532|PMID:29511323|PMID:29882456|PMID:31395954|PMID:31397905|PMID:32214227|PMID:34930662 9000410 Cdc40 cell division cycle 40 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1316032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia PMID:33220177 9000410 Cdc40 cell division cycle 40 gene DOID:0112326 pontocerebellar hypoplasia type 15 ISO RGD:1316032 D RGD:7240710 20210505 OMIM 9000410 Cdc40 cell division cycle 40 gene DOID:0112326 pontocerebellar hypoplasia type 15 ISO RGD:1316032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 15 PMID:33220177 9000410 Cdc40 cell division cycle 40 gene DOID:630 genetic disease ISO RGD:1316032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000429 Ak6 adenylate kinase 6 gene DOID:630 genetic disease ISO RGD:7382322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000478 Lrrc27 leucine rich repeat containing 27 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1318562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 9000478 Lrrc27 leucine rich repeat containing 27 gene DOID:630 genetic disease ISO RGD:1318562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000504 Glt8d1 glycosyltransferase 8 domain containing 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1348884 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 9000504 Glt8d1 glycosyltransferase 8 domain containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1348884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 9000504 Glt8d1 glycosyltransferase 8 domain containing 1 gene DOID:630 genetic disease ISO RGD:1348884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000504 Glt8d1 glycosyltransferase 8 domain containing 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9000504 Glt8d1 glycosyltransferase 8 domain containing 1 gene DOID:9255 frontotemporal dementia ISO RGD:1348884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 9000519 Tceal9 transcription elongation factor A like 9 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9000519 Tceal9 transcription elongation factor A like 9 gene DOID:12849 autistic disorder ISO RGD:1352656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9000519 Tceal9 transcription elongation factor A like 9 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1352656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:31690835 9000519 Tceal9 transcription elongation factor A like 9 gene DOID:630 genetic disease ISO RGD:1352656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000533 Trappc1 trafficking protein particle complex subunit 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9000533 Trappc1 trafficking protein particle complex subunit 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1322784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9000533 Trappc1 trafficking protein particle complex subunit 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1322784 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 9000533 Trappc1 trafficking protein particle complex subunit 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 9000533 Trappc1 trafficking protein particle complex subunit 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1322784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 9000533 Trappc1 trafficking protein particle complex subunit 1 gene DOID:630 genetic disease ISO RGD:1322784 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000542 Gngt2 G protein subunit gamma transducin 2 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1343902 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 9000542 Gngt2 G protein subunit gamma transducin 2 gene DOID:630 genetic disease ISO RGD:1343902 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000542 Gngt2 G protein subunit gamma transducin 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343902 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9000553 Cables2 Cdk5 and Abl enzyme substrate 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9000553 Cables2 Cdk5 and Abl enzyme substrate 2 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1345026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9000553 Cables2 Cdk5 and Abl enzyme substrate 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345026 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9000553 Cables2 Cdk5 and Abl enzyme substrate 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1345026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 9000553 Cables2 Cdk5 and Abl enzyme substrate 2 gene DOID:630 genetic disease ISO RGD:1345026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000566 Ptms parathymosin gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:734337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9000566 Ptms parathymosin gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:734337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9000566 Ptms parathymosin gene DOID:0111621 Temtamy syndrome ISO RGD:734337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9000566 Ptms parathymosin gene DOID:630 genetic disease ISO RGD:734337 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000566 Ptms parathymosin gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:734337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9000586 Zdhhc5 zinc finger DHHC-type palmitoyltransferase 5 gene DOID:1059 intellectual disability ISO RGD:1314627 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9000586 Zdhhc5 zinc finger DHHC-type palmitoyltransferase 5 gene DOID:630 genetic disease ISO RGD:1314627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:0080000 muscular disease ISO RGD:737329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18380285 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:737329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:737329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:28492532 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:1059 intellectual disability ISO RGD:737329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:13580 cholestasis ISO RGD:3461 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:11804660|REF_RGD_ID:1599990 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:2746 glycogen storage disease V ISO RGD:737329 D RGD:7240710 20180130 OMIM 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:2746 glycogen storage disease V ISO RGD:737329 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V | ClinVar Annotator: match by term: McArdle disease, mild | ClinVar Annotator: match by term: Myophosphorylase deficiency PMID:10417800|PMID:10450796|PMID:10590419|PMID:1067063|PMID:10679948|PMID:10681080|PMID:10714589|PMID:11168025|PMID:11706962|PMID:11749054|PMID:12031624|PMID:12118255|PMID:12398832|PMID:12508303|PMID:12929201|PMID:14568816|PMID:14638972|PMID:14722619|PMID:14748827|PMID:15979037|PMID:16154688|PMID:16199547|PMID:16786513|PMID:16793208|PMID:16924035|PMID:17172620|PMID:17221871|PMID:17324573|PMID:17404776|PMID:17560787|PMID:17576681|PMID:17630210|PMID:17705025|PMID:17876739|PMID:17915571|PMID:17994553|PMID:18067156|PMID:18162322|PMID:18641458|PMID:19232494|PMID:19251976|PMID:19433441|PMID:19472443|PMID:19670320|PMID:20301518|PMID:20683610|PMID:20957198|PMID:21520335|PMID:21658951|PMID:21802952|PMID:21880526|PMID:22250184|PMID:22608882|PMID:22730558|PMID:22818872|PMID:22832773|PMID:22899091|PMID:23653251|PMID:2391551|PMID:24033266|PMID:24503134|PMID:25044680|PMID:25045239|PMID:25214167|PMID:25240406|PMID:25525159|PMID:25640679|PMID:25740218|PMID:25741863|PMID:25741868|PMID:25873271|PMID:25914343|PMID:25987006|PMID:26032558|PMID:26115788|PMID:26436962|PMID:26633542|PMID:26913921|PMID:26944031|PMID:27032803|PMID:2703328|PMID:27243974|PMID:28492532|PMID:28967462|PMID:29143597|PMID:29382405|PMID:30011114|PMID:30316539|PMID:30415384|PMID:30560358|PMID:31319225|PMID:31589614|PMID:32075227|PMID:32386344|PMID:32735634|PMID:34008892|PMID:34215481|PMID:34373715|PMID:34426522|PMID:34534370|PMID:3476861|PMID:34906502|PMID:35022222|PMID:35628876|PMID:35741838|PMID:7951211|PMID:7951262|PMID:8279469|PMID:8316268|PMID:8401511|PMID:8535454|PMID:9120482|PMID:9131647|PMID:9152836|PMID:9506549|PMID:9536098|PMID:9633816|PMID:9674815 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:3070 high grade glioma ISO RGD:737329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:423 myopathy ISO RGD:737329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:28492532 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:630 genetic disease ISO RGD:737329 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10450796|PMID:1067063|PMID:11168025|PMID:11706962|PMID:12929201|PMID:14748827|PMID:16199547|PMID:16786513|PMID:17172620|PMID:17221871|PMID:17324573|PMID:17404776|PMID:17915571|PMID:17994553|PMID:19251976|PMID:20301518|PMID:21802952|PMID:22250184|PMID:22730558|PMID:23653251|PMID:2391551|PMID:24033266|PMID:25240406|PMID:25740218|PMID:25741863|PMID:25741868|PMID:25873271|PMID:25914343|PMID:26913921|PMID:2703328|PMID:28492532|PMID:29143597|PMID:30415384|PMID:32386344|PMID:34426522|PMID:3476861|PMID:35741838|PMID:8279469|PMID:8316268|PMID:8401511|PMID:9131647|PMID:9152836|PMID:9506549|PMID:9674815 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:767 muscular atrophy ISO RGD:737329 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:1067063|PMID:11168025|PMID:11706962|PMID:12929201|PMID:14748827|PMID:16786513|PMID:17172620|PMID:17221871|PMID:17324573|PMID:17404776|PMID:17915571|PMID:17994553|PMID:20301518|PMID:21802952|PMID:22250184|PMID:22730558|PMID:23653251|PMID:2391551|PMID:24033266|PMID:25240406|PMID:25740218|PMID:25741868|PMID:25873271|PMID:25914343|PMID:28492532|PMID:29143597|PMID:32386344|PMID:3476861|PMID:35741838|PMID:8316268|PMID:8401511|PMID:9131647|PMID:9506549|PMID:9674815 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:9000884 Rhabdomyolysis ISO RGD:737329 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:25741868|PMID:28492532 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:9002189 High Myopia ISO RGD:737329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe Myopia PMID:25741868|PMID:28492532 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:9003936 Cardiomegaly ISO RGD:3461 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiocyte PMID:14618266|REF_RGD_ID:1599987 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:9005246 Paralysis ISO RGD:3461 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:skeletal muscle PMID:8769807|REF_RGD_ID:1599993 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3461 D RGD:9068941 20200609 RGD protein:increased expression:sarcoplasmic reticulum PMID:11692172|REF_RGD_ID:1599897 9000602 Pygm glycogen phosphorylase, muscle associated gene DOID:9007102 Myocardial Ischemia ISO RGD:3461 D RGD:9068941 20200609 RGD PMID:10498852|REF_RGD_ID:1599991 9000632 Zc3h3 zinc finger CCCH-type containing 3 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1316375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9000632 Zc3h3 zinc finger CCCH-type containing 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1316375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9000632 Zc3h3 zinc finger CCCH-type containing 3 gene DOID:1227 neutropenia ISO RGD:1316375 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 9000632 Zc3h3 zinc finger CCCH-type containing 3 gene DOID:4621 holoprosencephaly ISO RGD:1316375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 9000632 Zc3h3 zinc finger CCCH-type containing 3 gene DOID:630 genetic disease ISO RGD:1316375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000657 Znf248 zinc finger protein 248 gene DOID:630 genetic disease ISO RGD:1349221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000666 Tmem204 transmembrane protein 204 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1350691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 9000666 Tmem204 transmembrane protein 204 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1350691 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:28492532 9000666 Tmem204 transmembrane protein 204 gene DOID:1826 epilepsy ISO RGD:1350691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9000666 Tmem204 transmembrane protein 204 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1350691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9000666 Tmem204 transmembrane protein 204 gene DOID:630 genetic disease ISO RGD:1350691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000673 Septin12 septin 12 gene DOID:0070178 spermatogenic failure 10 ISO RGD:1604543 D RGD:7240710 20180130 OMIM 9000673 Septin12 septin 12 gene DOID:0070178 spermatogenic failure 10 ISO RGD:1604543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 10 PMID:22275165|PMID:22479503 9000673 Septin12 septin 12 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9000673 Septin12 septin 12 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 9000673 Septin12 septin 12 gene DOID:1826 epilepsy ISO RGD:1604543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9000673 Septin12 septin 12 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604543 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9000673 Septin12 septin 12 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 9000673 Septin12 septin 12 gene DOID:630 genetic disease ISO RGD:1604543 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000691 CDKN2B cyclin dependent kinase inhibitor 2B gene DOID:2671 transitional cell carcinoma ISO RGD:1348731 D RGD:9068941 20200609 RGD associated with Bladder Neoplasms;DNA, mRNA:deletion, decreased expression:urinary bladder urothelium PMID:11720438|REF_RGD_ID:2289697 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17294728 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:altered methylation: : PMID:20658957|REF_RGD_ID:11251750 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation: : PMID:23683424|REF_RGD_ID:11252195 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:0050908 myelodysplastic syndrome treatment ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:altered methylation:promoter: PMID:17611569|REF_RGD_ID:11252169 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:0060058 lymphoma ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9488045 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:deletion (human) PMID:20118908|REF_RGD_ID:8552306 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:0060318 acute promyelocytic leukemia disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hyprmethylation:promoter: PMID:12750706|REF_RGD_ID:11252187 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:0080188 chronic myelomonocytic leukemia ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:altered methylation:5'UTR: PMID:12750705|REF_RGD_ID:11252180 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:731792 D RGD:9068941 20200609 RGD PMID:14681685|REF_RGD_ID:11252167 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:10283 prostate cancer disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:16799475|REF_RGD_ID:2289684 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:1037 lymphoid leukemia ISO RGD:731792 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:10602427|REF_RGD_ID:11252194 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:1067 open-angle glaucoma disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:SNP: :rs1063192 (human) PMID:22840486|REF_RGD_ID:8548689 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:deletion PMID:16624482|REF_RGD_ID:7248757 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:deletion:urinary bladder PMID:15590562|REF_RGD_ID:2289696 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:1380 endometrial cancer ISO RGD:2324 D RGD:9068941 20200609 RGD DNA:deletion (rat) PMID:18558284|REF_RGD_ID:2316081 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:1612 breast cancer ISO RGD:1348731 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:1686 glaucoma ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21532571 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:1749 squamous cell carcinoma ISO RGD:1348731 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:18564286|REF_RGD_ID:8548686 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:2999 granulosa cell tumor ISO RGD:1348731 D RGD:9068941 20200609 RGD PMID:12203782|REF_RGD_ID:2296066 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:3070 high grade glioma ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578366|PMID:19578367 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:3393 coronary artery disease ISO RGD:1348731 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:23104008|PMID:34961328 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:SNPs: :rs615552, rs573687 (human) PMID:23361049|REF_RGD_ID:7248756 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11445839|REF_RGD_ID:13673922 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:4450 renal cell carcinoma ISO RGD:2324 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, deletion PMID:10391689|REF_RGD_ID:7248758 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:5419 schizophrenia ISO RGD:1348731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:630 genetic disease ISO RGD:1348731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:684 hepatocellular carcinoma ISO RGD:1348731 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:6846 familial melanoma ISO RGD:1348731 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532|PMID:9622062 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:8743 erythema infectiosum ISO RGD:1348731 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;DNA:hypermethylation:promoter: PMID:18384396|REF_RGD_ID:11252189 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1348731 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17632454|REF_RGD_ID:2289695 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9000046 Poisoning ISO RGD:1348731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20044985 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9000528 Coronary Disease ISO RGD:1348731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression:promoter, ovary PMID:16000597|REF_RGD_ID:2296065 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1348731 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17632454|REF_RGD_ID:2289695 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9003566 Mesothelioma ISO RGD:2324 D RGD:9068941 20200609 RGD DNA:deletion PMID:20065947|REF_RGD_ID:7248760 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9005873 Tongue Neoplasms ISO RGD:2324 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:16527513|REF_RGD_ID:1578522 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9007188 Liver Neoplasms ISO RGD:1348731 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9007715 Endometrial Neoplasms ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:SNPs: :rs615552, rs573687 (human) PMID:23361049|REF_RGD_ID:7248756 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia ISO RGD:1348731 D RGD:9068941 20200609 RGD mRNA:decreased expression:granulocyte,monocyte: PMID:9001419|REF_RGD_ID:11252196 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia ISO RGD:731792 D RGD:9068941 20200609 RGD PMID:14681685|REF_RGD_ID:11252167 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:deletion: : PMID:11064355|REF_RGD_ID:11251749 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:15863205|REF_RGD_ID:11252161 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation: : PMID:25616284|REF_RGD_ID:11251739 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1348731 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter: PMID:27168825|REF_RGD_ID:11252164 9000691 Cdkn2b cyclin dependent kinase inhibitor 2B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1348731 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia PMID:27993330 9000713 Cylc2 cylicin 2 gene DOID:1059 intellectual disability ISO RGD:1344761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9000713 Cylc2 cylicin 2 gene DOID:630 genetic disease ISO RGD:1344761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000724 Stx5 syntaxin 5 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:68634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9000724 Stx5 syntaxin 5 gene DOID:1059 intellectual disability ISO RGD:68634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9000724 Stx5 syntaxin 5 gene DOID:630 genetic disease ISO RGD:68634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000724 Stx5 syntaxin 5 gene DOID:9007649 Congenital Disorder of Glycosylation Type IIaa ISO RGD:68634 D RGD:7240710 20230802 OMIM 9000739 Hacd3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1605074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 9000739 Hacd3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:2717 Bloom syndrome ISO RGD:1605074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9000739 Hacd3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:630 genetic disease ISO RGD:1605074 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000739 Hacd3 3-hydroxyacyl-CoA dehydratase 3 gene DOID:9256 colorectal cancer ISO RGD:1605074 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9000754 Dnpep aspartyl aminopeptidase gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 9000754 Dnpep aspartyl aminopeptidase gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 9000754 Dnpep aspartyl aminopeptidase gene DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 PMID:28492532 9000754 Dnpep aspartyl aminopeptidase gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 9000754 Dnpep aspartyl aminopeptidase gene DOID:1148 polydactyly ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 9000754 Dnpep aspartyl aminopeptidase gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 9000754 Dnpep aspartyl aminopeptidase gene DOID:630 genetic disease ISO RGD:1313575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000754 Dnpep aspartyl aminopeptidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9000781 Taok1 TAO kinase 1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1351422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 9000781 Taok1 TAO kinase 1 gene DOID:630 genetic disease ISO RGD:1351422 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16761096|PMID:31230721|PMID:31875044|PMID:33565190|PMID:7768349 9000781 Taok1 TAO kinase 1 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1351422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23472202 9000781 Taok1 TAO kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351422 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:31230721 9000781 Taok1 TAO kinase 1 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1351422 D RGD:7240710 20211215 OMIM 9000781 Taok1 TAO kinase 1 gene DOID:9005813 DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES ISO RGD:1351422 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay with or without intellectual impairment or behavioral abnormalities PMID:25741868|PMID:31230721|PMID:33565190|PMID:35091509|PMID:7768349 9000781 Taok1 TAO kinase 1 gene DOID:9007817 Macroglossia ISO RGD:1351422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macroglossia PMID:25741868 9000781 Taok1 TAO kinase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1351422 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:33565190 9000781 Taok1 TAO kinase 1 gene DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT ISO RGD:1351422 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development PMID:25741868 9000805 Cbln1 cerebellin 1 precursor gene DOID:630 genetic disease ISO RGD:1348062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000819 Foxn3 forkhead box N3 gene DOID:630 genetic disease ISO RGD:1313904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000845 Mphosph8 M-phase phosphoprotein 8 gene DOID:630 genetic disease ISO RGD:1603305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000862 Snrpa1 small nuclear ribonucleoprotein polypeptide A' gene DOID:630 genetic disease ISO RGD:1321959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000862 Snrpa1 small nuclear ribonucleoprotein polypeptide A' gene DOID:65 connective tissue disease ISO RGD:1321959 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 9000875 Mtx3 metaxin 3 gene DOID:630 genetic disease ISO RGD:1601695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000875 Mtx3 metaxin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1313312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:0050700 cardiomyopathy ISO RGD:1552183 D RGD:9068941 20230330 MouseDO 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:0110243 cataract 46 juvenile-onset ISO RGD:1313312 D RGD:7240710 20190315 OMIM 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:0110243 cataract 46 juvenile-onset ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 46 juvenile-onset PMID:23806086|PMID:23863954|PMID:24088041|PMID:26788539|PMID:31061923|PMID:4061486 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:10907 microcephaly ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30905398 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:630 genetic disease ISO RGD:1313312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:83 cataract ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:9000495 Tremor ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intention tremor PMID:25741868|PMID:30905398 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:9005616 Micrognathism ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868|PMID:30905398 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:9006257 Growth Disorders ISO RGD:1313312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:25741868|PMID:30905398 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:9007661 Dwarfism ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:30905398 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:9007917 Supernumerary Tooth ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Teeth, supernumerary PMID:25741868|PMID:30905398 9000894 Lemd2 LEM domain nuclear envelope protein 2 gene DOID:930 orbital disease ISO RGD:1313312 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proptosis PMID:25741868|PMID:30905398 9000908 Cbln4 cerebellin 4 precursor gene DOID:630 genetic disease ISO RGD:1346675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000915 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 9000915 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1602162 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 9000915 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9000915 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1602162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 9000915 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0081097 Rafiq syndrome ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 9000915 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1602162 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9000915 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:1826 epilepsy ISO RGD:1602162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9000915 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:630 genetic disease ISO RGD:1602162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000915 Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1602162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9000933 Pdcl3 phosducin like 3 gene DOID:630 genetic disease ISO RGD:1320124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1602274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1602274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1602274 D RGD:7240710 20180130 OMIM 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1602274 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:16199547|PMID:17576681|PMID:24033266|PMID:25029335|PMID:25401470|PMID:25741868|PMID:25790474|PMID:26235147|PMID:27613991|PMID:28087229|PMID:28484079|PMID:28492532|PMID:29367762|PMID:29694889|PMID:30038614|PMID:30463976|PMID:30794020|PMID:30919572|PMID:31866997|PMID:32673614|PMID:33014937|PMID:33217613|PMID:33488593|PMID:36275728|PMID:9536098 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:11077 brucellosis ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:29203515|PMID:30894428|REF_RGD_ID:39128199|REF_RGD_ID:39128234 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:11573 listeriosis ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:21098106|PMID:23378430|REF_RGD_ID:39128219|REF_RGD_ID:39128233 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:1395 schistosomiasis ISO RGD:1615847 D RGD:9068941 20200925 RGD PMID:32404867|REF_RGD_ID:39128195 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:1602 lymphadenitis disease_progression ISO RGD:1615847 D RGD:9068941 20201001 RGD associated with herpes simplex PMID:27511736|REF_RGD_ID:39128217 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:2043 hepatitis B ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:27312012|REF_RGD_ID:39128205 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:2365 West Nile encephalitis severity ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:31415679|REF_RGD_ID:39128224 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1602274 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28166811|PMID:28492532 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1602274 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:17576681|PMID:25741868|PMID:28087229|PMID:28492532|PMID:30919572|PMID:32673614|PMID:33488593|PMID:36275728|PMID:9536098 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1615847 D RGD:9068941 20201001 RGD associated with Haemophilus Infections;mRNA, protein:increased expression:lung (mouse) PMID:29421524|REF_RGD_ID:39128228 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1602274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25129146 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:399 tuberculosis ISO RGD:1615847 D RGD:9068941 20200925 RGD PMID:29791904|REF_RGD_ID:39128196 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1602274 D RGD:9068941 20201001 RGD mRNA:increased expression:multiple tissues (human) PMID:24367701|REF_RGD_ID:39128218 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:630 genetic disease ISO RGD:1602274 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9000109 Haemophilus Infections ISO RGD:1615847 D RGD:9068941 20201001 RGD mRNA,protein:increased expression:lung (mouse) PMID:29421524|REF_RGD_ID:39128228 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9002087 Silicotuberculosis severity ISO RGD:1615847 D RGD:9068941 20200925 RGD PMID:31141689|REF_RGD_ID:39128194 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:29263110|REF_RGD_ID:39128230 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9005106 Animal Toxoplasmosis severity ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:31416833|REF_RGD_ID:39128220 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1602274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27566796 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1615847 D RGD:9068941 20201001 RGD PMID:31249303|REF_RGD_ID:39128225 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1602274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1602274 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36520315 9000943 Sting1 stimulator of interferon response cGAMP interactor 1 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1602274 D RGD:9068941 20201001 RGD DNA:hypermethylation:promoter PMID:30593207|REF_RGD_ID:39128221 9000969 Nop56 NOP56 ribonucleoprotein gene DOID:0050753 cerebellar ataxia ISO RGD:1318922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 9000969 Nop56 NOP56 ribonucleoprotein gene DOID:0050983 spinocerebellar ataxia type 36 ISO RGD:1318922 D RGD:7240710 20180130 OMIM 9000969 Nop56 NOP56 ribonucleoprotein gene DOID:0050983 spinocerebellar ataxia type 36 ISO RGD:1318922 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 36 PMID:25741868 9000969 Nop56 NOP56 ribonucleoprotein gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1318922 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 9000969 Nop56 NOP56 ribonucleoprotein gene DOID:3910 lung adenocarcinoma ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9000969 Nop56 NOP56 ribonucleoprotein gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1318922 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 9000969 Nop56 NOP56 ribonucleoprotein gene DOID:630 genetic disease ISO RGD:1318922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000969 Nop56 NOP56 ribonucleoprotein gene DOID:9000217 Stomach Neoplasms ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9000969 Nop56 NOP56 ribonucleoprotein gene DOID:9000918 Disease Progression ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9000969 Nop56 NOP56 ribonucleoprotein gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9000969 Nop56 NOP56 ribonucleoprotein gene DOID:9006205 Animal Disease Models ISO RGD:1318922 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9000996 Dpt dermatopontin gene DOID:10003 sensorineural hearing loss ISO RGD:1316210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 9000996 Dpt dermatopontin gene DOID:1540 parathyroid carcinoma ISO RGD:1316210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9000996 Dpt dermatopontin gene DOID:630 genetic disease ISO RGD:1316210 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9000996 Dpt dermatopontin gene DOID:799 varicose veins ISO RGD:1316210 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17643059 9000996 Dpt dermatopontin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316210 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9001011 Dnase1 deoxyribonuclease 1 gene DOID:0060643 primary sclerosing cholangitis ISO RGD:736197 D RGD:9068941 20200813 RGD protein:decreased activity:serum (human) PMID:28263100|REF_RGD_ID:38500241 9001011 Dnase1 deoxyribonuclease 1 gene DOID:0080205 CAKUT ISO RGD:736197 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28492532|PMID:30143558 9001011 Dnase1 deoxyribonuclease 1 gene DOID:0080206 CAKUT1 ISO RGD:736197 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 PMID:24152966|PMID:28710113|PMID:35765067 9001011 Dnase1 deoxyribonuclease 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9001011 Dnase1 deoxyribonuclease 1 gene DOID:12236 primary biliary cholangitis ISO RGD:736197 D RGD:9068941 20200813 RGD protein:decreased activity:serum (human) PMID:28263100|REF_RGD_ID:38500241 9001011 Dnase1 deoxyribonuclease 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:736197 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28780505 9001011 Dnase1 deoxyribonuclease 1 gene DOID:1826 epilepsy ISO RGD:736197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9001011 Dnase1 deoxyribonuclease 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736197 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9001011 Dnase1 deoxyribonuclease 1 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:736197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 9001011 Dnase1 deoxyribonuclease 1 gene DOID:2048 autoimmune hepatitis ISO RGD:736197 D RGD:9068941 20200813 RGD protein:decreased activity:serum (human) PMID:28263100|REF_RGD_ID:38500241 9001011 Dnase1 deoxyribonuclease 1 gene DOID:3459 breast carcinoma ISO RGD:736197 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HER2 positive breast carcinoma PMID:25741868|PMID:28492532 9001011 Dnase1 deoxyribonuclease 1 gene DOID:4455 hereditary renal cell carcinoma ISO RGD:736197 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary renal cell carcinoma PMID:28492532 9001011 Dnase1 deoxyribonuclease 1 gene DOID:576 proteinuria ISO RGD:736197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22479529 9001011 Dnase1 deoxyribonuclease 1 gene DOID:630 genetic disease ISO RGD:736197 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9001011 Dnase1 deoxyribonuclease 1 gene DOID:9005700 Airway Obstruction ISO RGD:736197 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28780505 9001011 Dnase1 deoxyribonuclease 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:736197 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:10835632|PMID:11479590|PMID:15333586|PMID:18486922|PMID:24206041|PMID:25741868 9001011 Dnase1 deoxyribonuclease 1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:736197 D RGD:7240710 20230505 OMIM 9001027 Itgae integrin subunit alpha E gene DOID:3613 Canavan disease ISO RGD:1346113 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 9001027 Itgae integrin subunit alpha E gene DOID:630 genetic disease ISO RGD:1346113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001066 Aff2 ALF transcription elongation factor 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 9001066 Aff2 ALF transcription elongation factor 2 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1343236 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE PMID:25741868 9001066 Aff2 ALF transcription elongation factor 2 gene DOID:0080984 X-linked intellectual developmental disorder 109 ISO RGD:1343236 D RGD:7240710 20210421 OMIM 9001066 Aff2 ALF transcription elongation factor 2 gene DOID:0080984 X-linked intellectual developmental disorder 109 ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109 PMID:18414213|PMID:21739600|PMID:22773736|PMID:23562910|PMID:25741868|PMID:28492532 9001066 Aff2 ALF transcription elongation factor 2 gene DOID:1059 intellectual disability ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25741868|PMID:28492532 9001066 Aff2 ALF transcription elongation factor 2 gene DOID:12849 autistic disorder ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9001066 Aff2 ALF transcription elongation factor 2 gene DOID:14261 fragile X syndrome ISO RGD:1343236 D RGD:9068941 20210430 CTD CTD Direct Evidence: marker/mechanism 9001066 Aff2 ALF transcription elongation factor 2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9001066 Aff2 ALF transcription elongation factor 2 gene DOID:630 genetic disease ISO RGD:1343236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9001066 Aff2 ALF transcription elongation factor 2 gene DOID:9000991 SULEIMAN-EL-HATTAB SYNDROME ISO RGD:1343236 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Suleiman-El-Hattab syndrome PMID:25741868 9001066 Aff2 ALF transcription elongation factor 2 gene DOID:9007661 Dwarfism ISO RGD:1343236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 9001101 Esm1 endothelial cell specific molecule 1 gene DOID:630 genetic disease ISO RGD:737594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001101 Esm1 endothelial cell specific molecule 1 gene DOID:684 hepatocellular carcinoma ISO RGD:737594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9001101 Esm1 endothelial cell specific molecule 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9001101 Esm1 endothelial cell specific molecule 1 gene DOID:9007188 Liver Neoplasms ISO RGD:737594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 9001109 Loxl1 lysyl oxidase like 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318705 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9001109 Loxl1 lysyl oxidase like 1 gene DOID:1070 primary open angle glaucoma ISO RGD:1318705 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs1048661, rs2165241, rs3825942 (human) PMID:19098994|REF_RGD_ID:7387330 9001109 Loxl1 lysyl oxidase like 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:1318705 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) PMID:18223248|REF_RGD_ID:7394723 9001109 Loxl1 lysyl oxidase like 1 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1318705 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R141L (human) PMID:21236409|REF_RGD_ID:7387334 9001109 Loxl1 lysyl oxidase like 1 gene DOID:11054 urinary bladder cancer ISO RGD:1318705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17456585 9001109 Loxl1 lysyl oxidase like 1 gene DOID:13550 angle-closure glaucoma no_association ISO RGD:1318705 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) PMID:18223248|REF_RGD_ID:7394723 9001109 Loxl1 lysyl oxidase like 1 gene DOID:13641 exfoliation syndrome ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to PMID:17690259|PMID:18037624|PMID:19343041 9001109 Loxl1 lysyl oxidase like 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:1318705 D RGD:9068941 20200609 RGD DNA:CNVs PMID:23288989|REF_RGD_ID:7387333 9001109 Loxl1 lysyl oxidase like 1 gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:1318705 D RGD:7240710 20190502 OMIM 9001109 Loxl1 lysyl oxidase like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318705 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9001109 Loxl1 lysyl oxidase like 1 gene DOID:2717 Bloom syndrome ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9001109 Loxl1 lysyl oxidase like 1 gene DOID:3320 Tay-Sachs disease ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 9001109 Loxl1 lysyl oxidase like 1 gene DOID:5082 liver cirrhosis ISO RGD:1318705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097701 9001109 Loxl1 lysyl oxidase like 1 gene DOID:5419 schizophrenia ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9001109 Loxl1 lysyl oxidase like 1 gene DOID:630 genetic disease ISO RGD:1318705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001109 Loxl1 lysyl oxidase like 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1318706 D RGD:9068941 20200609 RGD PMID:18296663|REF_RGD_ID:7394725 9001109 Loxl1 lysyl oxidase like 1 gene DOID:9001330 Urinary Incontinence, Stress ISO RGD:1318705 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:exon, intron:rs1048661, rs2165241 (human) PMID:22765198|REF_RGD_ID:7394729 9001109 Loxl1 lysyl oxidase like 1 gene DOID:9003936 Cardiomegaly ISO RGD:1308752 D RGD:9068941 20200609 RGD PMID:17378376|REF_RGD_ID:7394734 9001109 Loxl1 lysyl oxidase like 1 gene DOID:9007023 Prenatal Injuries ISO RGD:1318705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20045017 9001109 Loxl1 lysyl oxidase like 1 gene DOID:9256 colorectal cancer ISO RGD:1318705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9001145 Vps29 VPS29 retromer complex component gene DOID:630 genetic disease ISO RGD:1318040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001158 Akap17a A-kinase anchoring protein 17A gene DOID:12849 autistic disorder ISO RGD:1606031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9001166 Rmdn3 regulator of microtubule dynamics 3 gene DOID:2717 Bloom syndrome ISO RGD:1602700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9001166 Rmdn3 regulator of microtubule dynamics 3 gene DOID:630 genetic disease ISO RGD:1602700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001166 Rmdn3 regulator of microtubule dynamics 3 gene DOID:9256 colorectal cancer ISO RGD:1602700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9001189 Ap5m1 adaptor related protein complex 5 subunit mu 1 gene DOID:4450 renal cell carcinoma ISO RGD:1317656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 9001189 Ap5m1 adaptor related protein complex 5 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1317656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001219 Pjvk pejvakin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1352291 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:19888295|PMID:25741868|PMID:30303587|PMID:32747562 9001219 Pjvk pejvakin gene DOID:0090048 dystonia 16 ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:24033266|PMID:28492532 9001219 Pjvk pejvakin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1352291 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:28492532|PMID:30557390 9001219 Pjvk pejvakin gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1352291 D RGD:7240710 20180130 OMIM 9001219 Pjvk pejvakin gene DOID:0110511 autosomal recessive nonsyndromic deafness 59 ISO RGD:1352291 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 59 PMID:16804542|PMID:17301963|PMID:17329413|PMID:17373699|PMID:17718865|PMID:17718875|PMID:19888295|PMID:21935370|PMID:23804846|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27344577|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32747562|PMID:35052489 9001219 Pjvk pejvakin gene DOID:543 dystonia ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:24033266|PMID:28492532 9001219 Pjvk pejvakin gene DOID:630 genetic disease ISO RGD:1352291 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30311386 9001219 Pjvk pejvakin gene DOID:9004538 Hearing Loss ISO RGD:1352291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:28492532|PMID:30311386 9001219 Pjvk pejvakin gene DOID:9008681 Deafness ISO RGD:1352291 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Deafness PMID:19888295|PMID:25741868|PMID:30303587|PMID:32747562 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:0060071 pre-malignant neoplasm ISO RGD:628847 D RGD:9068941 20200609 RGD associated with Liver Neoplasms, Experimental;protein:decreased expression:liver PMID:18081878|REF_RGD_ID:2304231 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:0060071 pre-malignant neoplasm ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21317887 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:10652 Alzheimer's disease ISO RGD:736023 D RGD:9068941 20200609 RGD protein:increased expression:brain,CA1 field of hippocampus: PMID:11208906|REF_RGD_ID:10412676 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:12098 trigeminal neuralgia ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:13619 extrahepatic cholestasis ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:2237 hepatitis ISO RGD:736024 D RGD:9068941 20220811 RGD PMID:25173965|REF_RGD_ID:153305943 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:2349 arteriosclerosis ISO RGD:736024 D RGD:9068941 20200609 RGD PMID:15567863|REF_RGD_ID:1582314 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:326 ischemia ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19667931 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:736023 D RGD:9068941 20200609 RGD PMID:22517435|REF_RGD_ID:14348976 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:630 genetic disease ISO RGD:736023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21779479 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736023 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms PMID:25205654|REF_RGD_ID:13217416 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:9002211 Hyperalgesia ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736023 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:9004009 Reperfusion Injury ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19667931|PMID:20302854 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:9006205 Animal Disease Models ISO RGD:736023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:9256 colorectal cancer treatment ISO RGD:736023 D RGD:9068941 20200609 RGD PMID:25205654|REF_RGD_ID:13217416 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:628847 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 9001234 Mapk9 mitogen-activated protein kinase 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736023 D RGD:9068941 20200609 RGD protein:hyperphosphorylation:pancreatic islet: PMID:21911753|REF_RGD_ID:13506785 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:0050644 arterial calcification of infancy ISO RGD:734433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25758222 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:12384774|PMID:25741868|PMID:28492532 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:12241 beta thalassemia ISO RGD:734434 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:21281810|REF_RGD_ID:11038787 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:12849 autistic disorder ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:1826 epilepsy ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:7240710 20180130 OMIM 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum ISO RGD:734433 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste PMID:10811882|PMID:10835642|PMID:10835643|PMID:10954200|PMID:11179012|PMID:11427982|PMID:11439001|PMID:11474653|PMID:11493310|PMID:11536079|PMID:11692167|PMID:11702217|PMID:11880368|PMID:12176944|PMID:12384774|PMID:12673275|PMID:12714611|PMID:12928920|PMID:14631379|PMID:15086542|PMID:15098239|PMID:15184964|PMID:15459974|PMID:15645653|PMID:15723264|PMID:15727254|PMID:15752294|PMID:15894595|PMID:16086317|PMID:16086762|PMID:16127278|PMID:16199547|PMID:16392638|PMID:16410789|PMID:16541094|PMID:16543900|PMID:16573612|PMID:16835894|PMID:16854481|PMID:17576681|PMID:17617515|PMID:17724214|PMID:17823974|PMID:18157818|PMID:18253096|PMID:18347285|PMID:18513494|PMID:18800149|PMID:19284998|PMID:19339160|PMID:19726431|PMID:19904211|PMID:20034067|PMID:20075945|PMID:20799350|PMID:20801516|PMID:20849526|PMID:21179111|PMID:21935449|PMID:22209248|PMID:23483032|PMID:23572048|PMID:23702584|PMID:24008425|PMID:24033266|PMID:24088041|PMID:24352041|PMID:24727260|PMID:25062064|PMID:25264593|PMID:25265166|PMID:25615550|PMID:25741868|PMID:26029710|PMID:26084751|PMID:26633545|PMID:26982014|PMID:27133371|PMID:27994049|PMID:28041643|PMID:28102862|PMID:28186352|PMID:28492532|PMID:28655553|PMID:28912966|PMID:29709427|PMID:29722917|PMID:29800625|PMID:30154241|PMID:30229859|PMID:30328268|PMID:30537162|PMID:30805891|PMID:31164056|PMID:31240106|PMID:31456290|PMID:32037395|PMID:32372237|PMID:32818659|PMID:32860008|PMID:32873932|PMID:33812167|PMID:33946315|PMID:34205333|PMID:34440381|PMID:34597610|PMID:34906475|PMID:35261845|PMID:36317459|PMID:9536098 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum no_association ISO RGD:734433 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human) PMID:16835894|REF_RGD_ID:11038786 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:2738 pseudoxanthoma elasticum susceptibility ISO RGD:734433 D RGD:9068941 20200609 RGD PMID:10835643|REF_RGD_ID:737772 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:3144 cutis laxa ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:10811882|PMID:10835642|PMID:11536079|PMID:12176944|PMID:12384774|PMID:12714611|PMID:16541094|PMID:17617515|PMID:18800149|PMID:22209248|PMID:25741868|PMID:26982014|PMID:28102862|PMID:28492532 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:3393 coronary artery disease ISO RGD:734433 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.R1141X (3421C>T) (human) PMID:12176944|REF_RGD_ID:11038788 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:5419 schizophrenia ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:630 genetic disease ISO RGD:734433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:8445 intestinal volvulus ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9000524 Generalized Arterial Calcification of Infancy, 2 ISO RGD:734433 D RGD:7240710 20180130 OMIM 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9000524 Generalized Arterial Calcification of Infancy, 2 ISO RGD:734433 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 PMID:10811882|PMID:10835642|PMID:11179012|PMID:11439001|PMID:11474653|PMID:11536079|PMID:11702217|PMID:12176944|PMID:12384774|PMID:12673275|PMID:12714611|PMID:14631379|PMID:15086542|PMID:15459974|PMID:15645653|PMID:15894595|PMID:16086317|PMID:16127278|PMID:16199547|PMID:16410789|PMID:16541094|PMID:16573612|PMID:16835894|PMID:17617515|PMID:18157818|PMID:18253096|PMID:18513494|PMID:18800149|PMID:19339160|PMID:19726431|PMID:20034067|PMID:20075945|PMID:21935449|PMID:22209248|PMID:23483032|PMID:23572048|PMID:24008425|PMID:24033266|PMID:24088041|PMID:25264593|PMID:25265166|PMID:25741868|PMID:26029710|PMID:26633545|PMID:26982014|PMID:27133371|PMID:27994049|PMID:28102862|PMID:28186352|PMID:28492532|PMID:28655553|PMID:29722917|PMID:30154241|PMID:30537162|PMID:30805891|PMID:32873932|PMID:34597610|PMID:36317459 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9000918 Disease Progression ISO RGD:734433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9002457 Experimental Arthritis ISO RGD:620268 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:22974786|REF_RGD_ID:11038789 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9006205 Animal Disease Models ISO RGD:734433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23415960 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9006273 Pseudoxanthoma Elasticum, Heterozygous ISO RGD:734433 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS PMID:10811882|PMID:10835642|PMID:11439001|PMID:11536079|PMID:12176944|PMID:12384774|PMID:12673275|PMID:12714611|PMID:15459974|PMID:15645653|PMID:15894595|PMID:16086317|PMID:16199547|PMID:16410789|PMID:16541094|PMID:16573612|PMID:16835894|PMID:17617515|PMID:18157818|PMID:18253096|PMID:18800149|PMID:20075945|PMID:22209248|PMID:23572048|PMID:24008425|PMID:24088041|PMID:25265166|PMID:25741868|PMID:26029710|PMID:26633545|PMID:26982014|PMID:27133371|PMID:28102862|PMID:28186352|PMID:28492532|PMID:28655553|PMID:32873932 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9007096 Stroke ISO RGD:734433 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28492532 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:734433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9008296 Eye Abnormalities ISO RGD:734433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:11536079|PMID:12673275|PMID:14631379|PMID:15086542|PMID:17617515|PMID:18347285|PMID:25741868|PMID:28041643|PMID:28492532|PMID:31164056|PMID:32873932 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:734433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 9001268 Abcc6 ATP binding cassette subfamily C member 6 gene DOID:9008443 Colorectal Neoplasms ISO RGD:734433 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 9001312 Dclk1 doublecortin like kinase 1 gene DOID:630 genetic disease ISO RGD:68655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001312 Dclk1 doublecortin like kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68655 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23202126 9001350 C2 complement C2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353499 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9001350 C2 complement C2 gene DOID:0060295 complement component 2 deficiency ISO RGD:1353499 D RGD:7240710 20180130 OMIM 9001350 C2 complement C2 gene DOID:0060295 complement component 2 deficiency ISO RGD:1353499 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: C2 deficiency | ClinVar Annotator: match by term: C2 deficiency, type II | ClinVar Annotator: match by term: Complement component 2 deficiency PMID:1542325|PMID:1577763|PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:27943079|PMID:28492532|PMID:29148534|PMID:31440263|PMID:31980526|PMID:32113979|PMID:33726816|PMID:34426522|PMID:34899688|PMID:35874679|PMID:6308626|PMID:8181962|PMID:8621452|PMID:9536098|PMID:9616367|PMID:9670930 9001350 C2 complement C2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 9001350 C2 complement C2 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962|PMID:9616367 9001350 C2 complement C2 gene DOID:0080600 COVID-19 ISO RGD:1353499 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9001350 C2 complement C2 gene DOID:0110026 age related macular degeneration 14 ISO RGD:1353499 D RGD:7240710 20180130 OMIM 9001350 C2 complement C2 gene DOID:0110026 age related macular degeneration 14 ISO RGD:1353499 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 14 PMID:1577763|PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:27943079|PMID:28492532|PMID:31440263|PMID:31980526|PMID:32113979|PMID:33726816|PMID:34426522|PMID:34899688|PMID:35874679|PMID:6308626|PMID:8181962|PMID:9536098|PMID:9616367|PMID:9670930 9001350 C2 complement C2 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1353499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 9001350 C2 complement C2 gene DOID:10223 dermatomyositis ISO RGD:1353499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3501473 9001350 C2 complement C2 gene DOID:10652 Alzheimer's disease ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :p.E318D (rs9332739) (human) PMID:22300950|REF_RGD_ID:7401250 9001350 C2 complement C2 gene DOID:10754 otitis media ISO RGD:10255 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections PMID:20065024|REF_RGD_ID:7411716 9001350 C2 complement C2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1353499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 9001350 C2 complement C2 gene DOID:1407 anterior uveitis no_association ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP: :rs3020644 (human) PMID:22714898|REF_RGD_ID:7411695 9001350 C2 complement C2 gene DOID:2772 irritant dermatitis ISO RGD:1353499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27258892 9001350 C2 complement C2 gene DOID:2986 IgA glomerulonephritis ISO RGD:1353499 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 9001350 C2 complement C2 gene DOID:4448 macular degeneration ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962|PMID:9536098|PMID:9616367 9001350 C2 complement C2 gene DOID:4448 macular degeneration no_association ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human) PMID:22273503|REF_RGD_ID:7411731 9001350 C2 complement C2 gene DOID:4448 macular degeneration no_association ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E318D (rs9332739) (human) PMID:19169232|PMID:23112567|REF_RGD_ID:7411691|REF_RGD_ID:7411693 9001350 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human) PMID:18806293|REF_RGD_ID:7411713 9001350 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.1360+62G>T (rs547154) (human) PMID:22232432|REF_RGD_ID:7411694 9001350 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human) PMID:23233260|REF_RGD_ID:7411720 9001350 C2 complement C2 gene DOID:4448 macular degeneration susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16518403|REF_RGD_ID:1600582 9001350 C2 complement C2 gene DOID:557 kidney disease ISO RGD:1353499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 9001350 C2 complement C2 gene DOID:630 genetic disease ISO RGD:1353499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9001350 C2 complement C2 gene DOID:8893 psoriasis ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:polymorphism: :C2*2 (human) PMID:6559061|REF_RGD_ID:7411727 9001350 C2 complement C2 gene DOID:9005169 Complement Factor B Deficiency ISO RGD:1353499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement factor b deficiency PMID:16518403|PMID:16936732|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532 9001350 C2 complement C2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:2231 D RGD:9068941 20201211 RGD DNA:SNP:exon: p.Glu318Asp (human) PMID:22610944|REF_RGD_ID:40886317 9001350 C2 complement C2 gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:1353499 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.1360+62G>T (rs547154) (human) PMID:22232432|REF_RGD_ID:7411694 9001350 C2 complement C2 gene DOID:9074 systemic lupus erythematosus ISO RGD:1353499 D RGD:9068941 20200609 RGD PMID:6409476|REF_RGD_ID:7421516 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:0080107 microcephaly and chorioretinopathy 3 ISO RGD:1317577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 PMID:24033266|PMID:25741868|PMID:25817018|PMID:28492532 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1317578 D RGD:9068941 20200609 RGD PMID:11585747|REF_RGD_ID:2325154 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1317577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:3068 glioblastoma ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:630 genetic disease ISO RGD:1317577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:6432 pulmonary hypertension ISO RGD:1317577 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:24270264|REF_RGD_ID:9586752 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1317577 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1317578 D RGD:9068941 20200609 RGD PMID:12374701|REF_RGD_ID:2325153 9001392 Tp53bp1 tumor protein p53 binding protein 1 gene DOID:9256 colorectal cancer ISO RGD:1317577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9001443 Gnat3 G protein subunit alpha transducin 3 gene DOID:12336 male infertility ISO RGD:1604949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23818598 9001443 Gnat3 G protein subunit alpha transducin 3 gene DOID:1826 epilepsy ISO RGD:1604949 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 9001443 Gnat3 G protein subunit alpha transducin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9001443 Gnat3 G protein subunit alpha transducin 3 gene DOID:630 genetic disease ISO RGD:1604949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001443 Gnat3 G protein subunit alpha transducin 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:727817 D RGD:9068941 20200609 RGD mRNA, protein;increased expression:taste bud PMID:18824257|REF_RGD_ID:2302147 9001458 Spink8 serine peptidase inhibitor Kazal type 8 (putative) gene DOID:630 genetic disease ISO RGD:1606051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001458 Spink8 serine peptidase inhibitor Kazal type 8 (putative) gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 9001509 Tbx10 T-box transcription factor 10 gene DOID:1059 intellectual disability ISO RGD:1342498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9001509 Tbx10 T-box transcription factor 10 gene DOID:630 genetic disease ISO RGD:1342498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001509 Tbx10 T-box transcription factor 10 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1342498 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9001509 Tbx10 T-box transcription factor 10 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1342498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 9001528 Col16a1 collagen type XVI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1322191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001603 Kcnj13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0060476 Perlman syndrome ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 9001603 Kcnj13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:734216 D RGD:7240710 20180130 OMIM 9001603 Kcnj13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0110118 Leber congenital amaurosis 16 ISO RGD:734216 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 16 PMID:18179896|PMID:21763485|PMID:23255580|PMID:23977131|PMID:25326637|PMID:25475713|PMID:25741868|PMID:25921210|PMID:27203561|PMID:28492532|PMID:29068479|PMID:32507954 9001603 Kcnj13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0110991 Joubert syndrome 22 ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 9001603 Kcnj13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:734216 D RGD:7240710 20180130 OMIM 9001603 Kcnj13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:0111570 snowflake vitreoretinal degeneration ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration PMID:18179896|PMID:23255580|PMID:23977131|PMID:25741868|PMID:28492532|PMID:33546218 9001603 Kcnj13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:14791 Leber congenital amaurosis ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25326637 9001603 Kcnj13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:630 genetic disease ISO RGD:734216 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9001603 Kcnj13 potassium inwardly rectifying channel subfamily J member 13 gene DOID:8501 fundus dystrophy ISO RGD:734216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 9001610 Casz1 castor zinc finger 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 9001610 Casz1 castor zinc finger 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1606535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9001610 Casz1 castor zinc finger 1 gene DOID:0060224 atrial fibrillation ISO RGD:1606535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 9001610 Casz1 castor zinc finger 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606535 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9001610 Casz1 castor zinc finger 1 gene DOID:0111936 immunodeficiency 14 ISO RGD:1606535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 9001610 Casz1 castor zinc finger 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 9001610 Casz1 castor zinc finger 1 gene DOID:630 genetic disease ISO RGD:1606535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9001610 Casz1 castor zinc finger 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 9001610 Casz1 castor zinc finger 1 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1606535 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 9001610 Casz1 castor zinc finger 1 gene DOID:9007096 Stroke ISO RGD:1606535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 9001610 Casz1 castor zinc finger 1 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1606535 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 9001641 Pick1 protein interacting with PRKCA 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:69496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9001641 Pick1 protein interacting with PRKCA 1 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:69496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9001641 Pick1 protein interacting with PRKCA 1 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:69496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9001641 Pick1 protein interacting with PRKCA 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:69496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9001641 Pick1 protein interacting with PRKCA 1 gene DOID:630 genetic disease ISO RGD:69496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001641 Pick1 protein interacting with PRKCA 1 gene DOID:670 amphetamine abuse ISO RGD:69496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17606663 9001641 Pick1 protein interacting with PRKCA 1 gene DOID:8646 substance-induced psychosis ISO RGD:69496 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17606663 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:0002116 pterygium ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva (human) PMID:21892527|REF_RGD_ID:6771360 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050852 limb ischemia ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21940947|PMID:22369073|REF_RGD_ID:6767285|REF_RGD_ID:6906905 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050853 chronic venous insufficiency ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:saphenous vein, venous endothelial cell (human) PMID:22737245|REF_RGD_ID:6484725 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1349615 D RGD:9068941 20220811 RGD protein:decreased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:0081267 graft-versus-host disease ISO RGD:1349615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM PMID:8532023 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:10923 sickle cell anemia severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:20306667|REF_RGD_ID:11541101 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:1115 sarcoma ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21760628|REF_RGD_ID:6771216 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:11382 corneal neovascularization ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21719569|PMID:22553751|REF_RGD_ID:6771213|REF_RGD_ID:6771229 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22456311|REF_RGD_ID:6767304 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:11713 diabetic angiopathy ISO RGD:62220 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus PMID:10329590|REF_RGD_ID:2311657 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:decreased expression:T cell (human) PMID:22697005|REF_RGD_ID:6771226 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:12377 spinal muscular atrophy ISO RGD:62220 D RGD:9068941 20200609 RGD protein:decreased expression:levator auris longus, transversus abdominis (mouse) PMID:22153987|REF_RGD_ID:6767297 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:12849 autistic disorder ISO RGD:1349615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17509538 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:12849 autistic disorder ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:22717029|REF_RGD_ID:6484728 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:13922 eosinophilic esophagitis ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (human) PMID:22331014|REF_RGD_ID:6771318 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:1349615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:28492532 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:1588 thrombocytopenia ISO RGD:1349615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:1936 atherosclerosis ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22053073|REF_RGD_ID:6771176 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:1936 atherosclerosis resistance ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:17659202|REF_RGD_ID:6771223 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:1936 atherosclerosis severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery (human) PMID:21960570|REF_RGD_ID:6771359 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:224 transient cerebral ischemia ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:22382321|REF_RGD_ID:6766379 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:2394 ovarian cancer severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:female gonad (human) PMID:25502723|REF_RGD_ID:11541094 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:2518 orchitis ISO RGD:61927 D RGD:9068941 20200609 RGD protein:increased expression:testes, endothelial cells (rat) PMID:22351899|REF_RGD_ID:6767571 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1349615 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3068 glioblastoma ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21858729|REF_RGD_ID:6771207 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3192 neurilemmoma severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:tumor (human) PMID:22555941|REF_RGD_ID:6771228 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease ISO RGD:1349615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28530674 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.N536S, p.G670R (human) PMID:11795274|REF_RGD_ID:2311656 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.53G>A (human) PMID:12732396|REF_RGD_ID:1581010 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3393 coronary artery disease no_association ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L125V (human) PMID:10780329|REF_RGD_ID:6771225 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1349615 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:417 autoimmune disease ISO RGD:1349615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:decreased expression:superficial vasculature (human) PMID:20228226|REF_RGD_ID:11541095 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:418 systemic scleroderma ISO RGD:62220 D RGD:9068941 20200609 RGD protein:decreased expression:superficial vasculature (human) PMID:20228226|REF_RGD_ID:11541095 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:4248 coronary stenosis ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L125V, p.S563N (human) PMID:10571959|REF_RGD_ID:1598382 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:5082 liver cirrhosis ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:blood microparticle (human) PMID:22465620|REF_RGD_ID:6771231 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:5844 myocardial infarction ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R643G (human) PMID:15488875|REF_RGD_ID:6771224 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:5844 myocardial infarction no_association ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L125V, p.S563N (human) PMID:15265022|REF_RGD_ID:1581009 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:5844 myocardial infarction onset ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.N563S, p.G670R (human) PMID:11795274|REF_RGD_ID:2311656 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:22559233|REF_RGD_ID:10400914 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:680 tauopathy ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:brain, blood vessel (mouse) PMID:21839061|REF_RGD_ID:6771210 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:769 neuroblastoma ISO RGD:1349615 D RGD:9068941 20200609 RGD human tumor in mouse model PMID:22174364|REF_RGD_ID:6767296 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:799 varicose veins ISO RGD:1349615 D RGD:9068941 20221110 RGD mRNA,protein:decreased expression:endothelium: PMID:26808710|REF_RGD_ID:11529441 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:824 periodontitis ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:gingiva, blood vessels (mouse) PMID:21979132|REF_RGD_ID:6771178 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:8283 peritonitis treatment ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:8113674|REF_RGD_ID:11541096 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:8398 osteoarthritis ISO RGD:61927 D RGD:9068941 20200609 RGD mRNA:increased expression:tibia (rat) PMID:21864409|REF_RGD_ID:6771362 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:853 polymyalgia rheumatica ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:plasma, endothelial microparticle (human) PMID:22211720|REF_RGD_ID:6771319 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:16521495|REF_RGD_ID:11552593 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:8692 myeloid leukemia ISO RGD:1349615 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:23772643|REF_RGD_ID:11541098 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:874 bacterial pneumonia ISO RGD:61927 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:12524254|REF_RGD_ID:724645 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000310 Lung Injury ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:lung (mouse) PMID:22806890|REF_RGD_ID:6771215 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000352 Vascular System Injuries ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:22552115|REF_RGD_ID:6484736 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000528 Coronary Disease ISO RGD:1349615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease PMID:8532023 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000656 Penetrating Wounds ISO RGD:1349615 D RGD:9068941 20200609 RGD PMID:22092840|REF_RGD_ID:6771175 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000656 Penetrating Wounds ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22615899|REF_RGD_ID:6771227 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:61927 D RGD:9068941 20200609 RGD mRNA:altered expression:jejunum, duodenum, ileum (rat) PMID:22227376|REF_RGD_ID:6767294 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9000998 Brain Injuries ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:22658532|REF_RGD_ID:6484732 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:coronary artery, intima (human) PMID:22336504|REF_RGD_ID:6767292 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1349615 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:glomerulus PMID:15042541|REF_RGD_ID:2311655 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia severity ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:increased expression:B cell (human) PMID:12673718|REF_RGD_ID:11541127 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002457 Experimental Arthritis ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21982514|REF_RGD_ID:6771177 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002457 Experimental Arthritis ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:knee joint, blood vessels (mouse) PMID:22548760|REF_RGD_ID:6484738 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002457 Experimental Arthritis severity ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:14613294|REF_RGD_ID:6771222 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002488 Peritoneal Fibrosis ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22101032|REF_RGD_ID:6771356 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002493 Ocular Neovascularization treatment ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:20538980|REF_RGD_ID:11541082 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002589 Bone Fractures ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21788831|REF_RGD_ID:6771211 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22832932|REF_RGD_ID:6771355 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9003204 Neovascularization, Pathologic treatment ISO RGD:62220 D RGD:9068941 20200609 RGD Ocular Neovascularization PMID:20538980|REF_RGD_ID:11541082 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1349615 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L125V (human) PMID:25846278|REF_RGD_ID:11541089 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:12121711|REF_RGD_ID:2311660 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:21872880|REF_RGD_ID:6771206 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:brain (mouse) PMID:22382321|REF_RGD_ID:6766379 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:myeloid suppressor cell (mouse) PMID:22451518|REF_RGD_ID:6771205 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia ISO RGD:1349615 D RGD:9068941 20200609 RGD PMID:10942385|REF_RGD_ID:11541093 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004593 Drug-Induced Immune Thrombocytopenia severity ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:17234740|REF_RGD_ID:11541120 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9004610 Acute Lung Injury ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:22592748|REF_RGD_ID:6483494 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61927 D RGD:9068941 20200609 RGD protein:decreased expression:corpus callosum, endothelium (rat) PMID:21967314|REF_RGD_ID:6771179 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9005721 Preeclamptic Toxemia ISO RGD:1349615 D RGD:9068941 20200609 RGD PMID:22534418|REF_RGD_ID:6771230 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9005930 Endotoxemia ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:22119535|REF_RGD_ID:6771174 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:21781312|REF_RGD_ID:6771212 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage (rat) PMID:16449942|REF_RGD_ID:11541083 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:61927 D RGD:9068941 20200609 RGD PMID:8989147|REF_RGD_ID:2311662 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008 psoriatic arthritis ISO RGD:1349615 D RGD:9068941 20200609 RGD PMID:22751595|REF_RGD_ID:6771221 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:61927 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve (rat) PMID:22336118|REF_RGD_ID:6767293 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21702037|REF_RGD_ID:6771214 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9008939 Breast Neoplasms ISO RGD:62220 D RGD:9068941 20200609 RGD PMID:21890879|REF_RGD_ID:6771361 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:62220 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow stem cell (mouse) PMID:21984919|REF_RGD_ID:6771358 9001664 Pecam1 platelet and endothelial cell adhesion molecule 1 gene DOID:9643 babesiosis ISO RGD:1349615 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:25539588|REF_RGD_ID:11541121 9001694 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:735629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 9001694 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:735629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 9001694 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:11446 sciatic neuropathy ISO RGD:631413 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion (rat) PMID:23613963|REF_RGD_ID:14390159 9001694 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:630 genetic disease ISO RGD:735629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001694 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:735629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 9001694 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:9001553 Spinal Cord Compression ISO RGD:631413 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion (rat) PMID:23613963|REF_RGD_ID:14390159 9001694 Amigo3 adhesion molecule with Ig like domain 3 gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:631413 D RGD:9068941 20200609 RGD PMID:23613963|REF_RGD_ID:14390159 9001699 LOC102015965 chromosome unknown open reading frame, human C16orf82 gene DOID:630 genetic disease ISO RGD:1602175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001706 Skic3 SKI3 subunit of superkiller complex gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9001706 Skic3 SKI3 subunit of superkiller complex gene DOID:0111414 trichohepatoenteric syndrome ISO RGD:1314461 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome PMID:17576681|PMID:20176027|PMID:21120949|PMID:24033266|PMID:25741868|PMID:27302973|PMID:28492532|PMID:29527791|PMID:34037310|PMID:35108801|PMID:35464432|PMID:9536098 9001706 Skic3 SKI3 subunit of superkiller complex gene DOID:0111415 trichohepatoenteric syndrome 1 ISO RGD:1314461 D RGD:7240710 20180130 OMIM 9001706 Skic3 SKI3 subunit of superkiller complex gene DOID:0111415 trichohepatoenteric syndrome 1 ISO RGD:1314461 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 PMID:16199547|PMID:20176027|PMID:21120949|PMID:23326254|PMID:25326635|PMID:25714577|PMID:25741868|PMID:27302973|PMID:28292286|PMID:28492532|PMID:28750028|PMID:29527791|PMID:33864888|PMID:34093558|PMID:35108801 9001706 Skic3 SKI3 subunit of superkiller complex gene DOID:10283 prostate cancer ISO RGD:1314461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9001706 Skic3 SKI3 subunit of superkiller complex gene DOID:612 primary immunodeficiency disease ISO RGD:1314461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:20176027|PMID:21120949|PMID:25741868|PMID:28492532 9001706 Skic3 SKI3 subunit of superkiller complex gene DOID:630 genetic disease ISO RGD:1314461 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9001706 Skic3 SKI3 subunit of superkiller complex gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9001706 Skic3 SKI3 subunit of superkiller complex gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314461 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9001773 Proser1 proline and serine rich 1 gene DOID:630 genetic disease ISO RGD:1319730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001794 Bcl9l BCL9 like gene DOID:0060017 CD3epsilon deficiency ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9001794 Bcl9l BCL9 like gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1319242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 9001794 Bcl9l BCL9 like gene DOID:0080690 RASopathy ISO RGD:1319242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9001794 Bcl9l BCL9 like gene DOID:0081330 glycogen storage disease Ib ISO RGD:1319242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 9001794 Bcl9l BCL9 like gene DOID:0110651 long QT syndrome 10 ISO RGD:1319242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 9001794 Bcl9l BCL9 like gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9001794 Bcl9l BCL9 like gene DOID:0111971 immunodeficiency 18 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9001794 Bcl9l BCL9 like gene DOID:0111972 immunodeficiency 19 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9001794 Bcl9l BCL9 like gene DOID:0111973 immunodeficiency 17 ISO RGD:1319242 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9001794 Bcl9l BCL9 like gene DOID:630 genetic disease ISO RGD:1319242 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9001794 Bcl9l BCL9 like gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1319242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9001794 Bcl9l BCL9 like gene DOID:9007661 Dwarfism ISO RGD:1319242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9001833 Pou6f2 POU class 6 homeobox 2 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1322006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 9001833 Pou6f2 POU class 6 homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1322006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20663923 9001833 Pou6f2 POU class 6 homeobox 2 gene DOID:1921 Klinefelter syndrome ISO RGD:1322006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 9001833 Pou6f2 POU class 6 homeobox 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9001833 Pou6f2 POU class 6 homeobox 2 gene DOID:630 genetic disease ISO RGD:1322006 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9001833 Pou6f2 POU class 6 homeobox 2 gene DOID:9001781 Wilms Tumor 5 ISO RGD:1322006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wilms tumor 5 PMID:11284034|PMID:15459955 9001833 Pou6f2 POU class 6 homeobox 2 gene DOID:9001781 Wilms Tumor 5 susceptibility ISO RGD:1322006 D RGD:7240710 20190502 OMIM 9001847 Znf285 zinc finger protein 285 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1342926 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 9001847 Znf285 zinc finger protein 285 gene DOID:630 genetic disease ISO RGD:1342926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001870 Hook2 hook microtubule tethering protein 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1320916 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 9001870 Hook2 hook microtubule tethering protein 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1320916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9001870 Hook2 hook microtubule tethering protein 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1320916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 9001870 Hook2 hook microtubule tethering protein 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1320916 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9001870 Hook2 hook microtubule tethering protein 2 gene DOID:630 genetic disease ISO RGD:1320916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001914 Aup1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1602731 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 9001914 Aup1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:543 dystonia ISO RGD:1602731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9001914 Aup1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:630 genetic disease ISO RGD:1602731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001914 Aup1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1602731 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9001914 Aup1 AUP1 lipid droplet regulating VLDL assembly factor gene DOID:9002859 Parkinson's Disease 13 ISO RGD:1602731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 13, autosomal dominant, susceptibility to PMID:18401856|PMID:18790661 9001933 Clspn claspin gene DOID:0080600 COVID-19 ISO RGD:1319224 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9001933 Clspn claspin gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9001933 Clspn claspin gene DOID:2661 myoepithelioma ISO RGD:1319224 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9001933 Clspn claspin gene DOID:630 genetic disease ISO RGD:1319224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001965 Gli4 GLI family zinc finger 4 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1354466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9001965 Gli4 GLI family zinc finger 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1354466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9001965 Gli4 GLI family zinc finger 4 gene DOID:4621 holoprosencephaly ISO RGD:1354466 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 9001965 Gli4 GLI family zinc finger 4 gene DOID:630 genetic disease ISO RGD:1354466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001975 Ldb1 LIM domain binding 1 gene DOID:630 genetic disease ISO RGD:1321219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9001975 Ldb1 LIM domain binding 1 gene DOID:9467 nail-patella syndrome ISO RGD:1321220 D RGD:9068941 20220825 MouseDO OMIM:161200 9001999 Epor erythropoietin receptor gene DOID:0050990 episodic ataxia type 2 ISO RGD:736105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 9001999 Epor erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:736105 D RGD:7240710 20180130 OMIM 9001999 Epor erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign | ClinVar Annotator: match by term: Familial erythrocytosis, 1 PMID:10498627|PMID:1653276|PMID:17488692|PMID:1954391|PMID:24115288|PMID:25741868|PMID:26010769|PMID:27993330|PMID:28492532|PMID:4052634|PMID:7795221|PMID:8093406|PMID:8174675|PMID:8506290|PMID:8608241|PMID:9292543|PMID:9394420|PMID:9488636|PMID:9649565 9001999 Epor erythropoietin receptor gene DOID:0060652 familial erythrocytosis 1 no_association ISO RGD:736105 D RGD:9068941 20200609 RGD PMID:9394420|REF_RGD_ID:11041608 9001999 Epor erythropoietin receptor gene DOID:0080794 childhood acute megakaryoblastic leukemia ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome PMID:17488692|PMID:27993330|PMID:8506290 9001999 Epor erythropoietin receptor gene DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter-Waziri syndrome PMID:25741868|PMID:28492532|PMID:8174675|PMID:9394420 9001999 Epor erythropoietin receptor gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:736105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9001999 Epor erythropoietin receptor gene DOID:0111254 glutaric acidemia I ISO RGD:736105 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 9001999 Epor erythropoietin receptor gene DOID:10652 Alzheimer's disease ISO RGD:736105 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:17483696|REF_RGD_ID:10395387 9001999 Epor erythropoietin receptor gene DOID:10763 hypertension susceptibility ISO RGD:736105 D RGD:9068941 20200609 RGD induced by erythropoietin; PMID:19458615|REF_RGD_ID:11041646 9001999 Epor erythropoietin receptor gene DOID:10780 primary polycythemia ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial erythrocytosis 9001999 Epor erythropoietin receptor gene DOID:13025 retinopathy of prematurity ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased expression,increased activity:retina: PMID:24630601|REF_RGD_ID:11041658 9001999 Epor erythropoietin receptor gene DOID:13413 hepatic encephalopathy ISO RGD:2560 D RGD:9068941 20200609 RGD associated with Hypertension, Portal PMID:24382264|REF_RGD_ID:10395388 9001999 Epor erythropoietin receptor gene DOID:1612 breast cancer ISO RGD:736105 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:12118093|REF_RGD_ID:11041669 9001999 Epor erythropoietin receptor gene DOID:1686 glaucoma ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:17554621|REF_RGD_ID:11041649 9001999 Epor erythropoietin receptor gene DOID:1909 melanoma ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21860424 9001999 Epor erythropoietin receptor gene DOID:2228 thrombocytosis ISO RGD:10532 D RGD:9068941 20200609 RGD PMID:8400289|REF_RGD_ID:11041647 9001999 Epor erythropoietin receptor gene DOID:2316 brain ischemia ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:14732457|REF_RGD_ID:11041652 9001999 Epor erythropoietin receptor gene DOID:2355 anemia ISO RGD:10532 D RGD:9068941 20200609 RGD PMID:9808048|REF_RGD_ID:11041637 9001999 Epor erythropoietin receptor gene DOID:2355 anemia susceptibility ISO RGD:736105 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic; PMID:23080113|REF_RGD_ID:11041607 9001999 Epor erythropoietin receptor gene DOID:3070 high grade glioma ISO RGD:2560 D RGD:9068941 20200609 RGD PMID:21749867|REF_RGD_ID:10400910 9001999 Epor erythropoietin receptor gene DOID:3070 high grade glioma ISO RGD:736105 D RGD:9068941 20200609 RGD PMID:21749867|REF_RGD_ID:10400910 9001999 Epor erythropoietin receptor gene DOID:3413 alpha-mannosidosis ISO RGD:736105 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9001999 Epor erythropoietin receptor gene DOID:4947 cholangiocarcinoma ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:23052842|REF_RGD_ID:10400912 9001999 Epor erythropoietin receptor gene DOID:5327 retinal detachment ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:17882708|REF_RGD_ID:11041648 9001999 Epor erythropoietin receptor gene DOID:5844 myocardial infarction ISO RGD:2560 D RGD:9068941 20200609 RGD PMID:21415704|REF_RGD_ID:10400907 9001999 Epor erythropoietin receptor gene DOID:630 genetic disease ISO RGD:736105 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9001999 Epor erythropoietin receptor gene DOID:783 end stage renal disease ISO RGD:2560 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:27468524|REF_RGD_ID:11532749 9001999 Epor erythropoietin receptor gene DOID:8432 polycythemia ISO RGD:736105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC PMID:10498627|PMID:1653276|PMID:17488692|PMID:1954391|PMID:24115288|PMID:25741868|PMID:26010769|PMID:27993330|PMID:28492532|PMID:4052634|PMID:7795221|PMID:8093406|PMID:8174675|PMID:8506290|PMID:8608241|PMID:9292543|PMID:9394420|PMID:9488636|PMID:9649565 9001999 Epor erythropoietin receptor gene DOID:8997 polycythemia vera ISO RGD:736105 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood cell: PMID:9207443|REF_RGD_ID:11041603 9001999 Epor erythropoietin receptor gene DOID:9000892 Fetal Distress ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:22099204|REF_RGD_ID:10401064 9001999 Epor erythropoietin receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 9001999 Epor erythropoietin receptor gene DOID:9000998 Brain Injuries ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:18093155|REF_RGD_ID:2293059 9001999 Epor erythropoietin receptor gene DOID:9001553 Spinal Cord Compression ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased expression:neuron, endothelium, glia: PMID:15792521|REF_RGD_ID:11041719 9001999 Epor erythropoietin receptor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2560 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver: PMID:25769561|REF_RGD_ID:15090809 9001999 Epor erythropoietin receptor gene DOID:9002955 Nerve Degeneration ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19497871 9001999 Epor erythropoietin receptor gene DOID:9004547 Thyroid Neoplasms ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 9001999 Epor erythropoietin receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 9001999 Epor erythropoietin receptor gene DOID:9004756 Brain Hypoxia ISO RGD:2560 D RGD:9068941 20200609 RGD PMID:21116766|REF_RGD_ID:10400899 9001999 Epor erythropoietin receptor gene DOID:9004756 Brain Hypoxia treatment ISO RGD:2560 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:24344874|REF_RGD_ID:10401067 9001999 Epor erythropoietin receptor gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2560 D RGD:9068941 20200609 RGD PMID:12118093|REF_RGD_ID:11041669 9001999 Epor erythropoietin receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2560 D RGD:9068941 20200609 RGD mRNA:increased expression:Schwann cell: PMID:24673486|REF_RGD_ID:11041670 9001999 Epor erythropoietin receptor gene DOID:9008939 Breast Neoplasms ISO RGD:736105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19706814 9001999 Epor erythropoietin receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:736105 D RGD:9068941 20200609 RGD PMID:23151030|REF_RGD_ID:11041604 9002035 Hmgb2 high mobility group box 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584|PMID:27602772 9002035 Hmgb2 high mobility group box 2 gene DOID:630 genetic disease ISO RGD:1605728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002035 Hmgb2 high mobility group box 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20851854 9002035 Hmgb2 high mobility group box 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29877212 9002035 Hmgb2 high mobility group box 2 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1605728 D RGD:9068941 20200609 RGD mRNA:decreased expression:articular cartilage PMID:19139395|REF_RGD_ID:10402184 9002035 Hmgb2 high mobility group box 2 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:736524 D RGD:9068941 20200609 RGD PMID:19139395|REF_RGD_ID:10402184 9002035 Hmgb2 high mobility group box 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9002035 Hmgb2 high mobility group box 2 gene DOID:9006205 Animal Disease Models ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9002035 Hmgb2 high mobility group box 2 gene DOID:9970 obesity ISO RGD:1605728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:736289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:0050700 cardiomyopathy ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20075336 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16574099|PMID:29289645 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736289 D RGD:9068941 20200609 RGD PMID:17652168|REF_RGD_ID:2324872 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:1909 melanoma ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28962521 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:4607 biliary tract cancer ISO RGD:736289 D RGD:9068941 20200609 RGD PMID:18497548|REF_RGD_ID:2324871 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:574 peripheral nervous system disease ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405|PMID:21245421 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:630 genetic disease ISO RGD:736289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:9000039 Spinal Cord Injuries ISO RGD:3370 D RGD:9068941 20200609 RGD PMID:20058304|REF_RGD_ID:2324875 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27765815 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:9003936 Cardiomegaly ISO RGD:3370 D RGD:9068941 20200609 RGD PMID:15728586|REF_RGD_ID:1580656 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:9003936 Cardiomegaly ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20075336 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:9004464 Skin Neoplasms ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19748995|PMID:21159610 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:9004657 Weight Gain ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20176998 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:9004713 Acute-Phase Reaction ISO RGD:3370 D RGD:9068941 20200609 RGD PMID:17461989|REF_RGD_ID:2324886 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3370 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:18573863|REF_RGD_ID:2313781 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3370 D RGD:9068941 20200609 RGD PMID:19997057|REF_RGD_ID:2324876 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:9352 type 2 diabetes mellitus ISO RGD:736289 D RGD:9068941 20200609 RGD DNA:SNPs PMID:16804087|REF_RGD_ID:1625186 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:9452 steatotic liver disease ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23851158 9002044 Ppard peroxisome proliferator activated receptor delta gene DOID:9970 obesity ISO RGD:736289 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16168052|PMID:20176998 9002062 Rpl10a ribosomal protein L10a gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:732410 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9002062 Rpl10a ribosomal protein L10a gene DOID:3910 lung adenocarcinoma ISO RGD:732410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9002062 Rpl10a ribosomal protein L10a gene DOID:630 genetic disease ISO RGD:732410 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002062 Rpl10a ribosomal protein L10a gene DOID:9006205 Animal Disease Models ISO RGD:732410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9002078 Tbc1d5 TBC1 domain family member 5 gene DOID:0060417 3p deletion syndrome ISO RGD:1321047 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 9002078 Tbc1d5 TBC1 domain family member 5 gene DOID:630 genetic disease ISO RGD:1321047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0001816 angiosarcoma ISO RGD:1350859 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Angiosarcoma PMID:20147967|PMID:21371307|PMID:24740626|PMID:25157968|PMID:25808193|PMID:28492532|PMID:34117033|PMID:8456858 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1350859 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24138715|PMID:24558511|PMID:24720724|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26623049|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:32581362|PMID:3627975|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0050469 Costello syndrome ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17468812|PMID:17703371 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0050700 cardiomyopathy no_association ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:24259500|REF_RGD_ID:11568677 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0050855 renal fibrosis treatment ISO RGD:2981 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22074740|REF_RGD_ID:11060152 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0050868 hepatocellular adenoma induced ISO RGD:2981 D RGD:9068941 20200609 RGD aflatoxin B1 induced:DNA:transversion,transition mutations:cds: PMID:8446626|REF_RGD_ID:11568697 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0050908 myelodysplastic syndrome ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27992414 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0060058 lymphoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9205081 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1350859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:16474404|PMID:16474405|PMID:16987887|PMID:17056636|PMID:17704260|PMID:17875937|PMID:18958496|PMID:19020799|PMID:19396835|PMID:20186801|PMID:20949621|PMID:21686179|PMID:21784453|PMID:21797849|PMID:23059812|PMID:23885229|PMID:24033266|PMID:24803665|PMID:25359213|PMID:25741868|PMID:26242988|PMID:27763634|PMID:28492532|PMID:28650561|PMID:29493581|PMID:29517769|PMID:8234268 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0060578 Noonan syndrome 1 ISO RGD:1350859 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:16474404|PMID:16474405|PMID:16773572|PMID:17056636|PMID:17551339|PMID:17875937|PMID:18456719|PMID:20949621|PMID:21062266|PMID:21871821|PMID:24033266|PMID:24703799|PMID:25326637|PMID:25741868|PMID:28492532 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0060581 Noonan syndrome 3 ISO RGD:1350859 D RGD:7240710 20180130 OMIM 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0060581 Noonan syndrome 3 ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 3 PMID:10590419|PMID:10681080|PMID:12110640|PMID:14982869|PMID:16474404|PMID:16474405|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17211612|PMID:17324647|PMID:17409930|PMID:17468812|PMID:17551339|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17994553|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18628094|PMID:18958496|PMID:19020799|PMID:19396835|PMID:20112233|PMID:20186801|PMID:20652921|PMID:20949621|PMID:21062266|PMID:21686179|PMID:21779504|PMID:21784453|PMID:21871821|PMID:21909114|PMID:22211815|PMID:22250184|PMID:23321623|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24703799|PMID:24803665|PMID:25326635|PMID:25326637|PMID:25359213|PMID:25741868|PMID:26242988|PMID:26822237|PMID:28492532|PMID:28650561|PMID:29402968|PMID:29493581|PMID:29948256|PMID:30415384|PMID:30732632|PMID:31160609|PMID:32078254|PMID:33452774|PMID:8246952 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1350859 D RGD:7240710 20190315 OMIM 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1350859 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22407852|PMID:22499344|PMID:22683711|PMID:22722830|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24138715|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26372703|PMID:26619011|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0070004 myeloid neoplasm ISO RGD:1550157 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.G12D (mouse) PMID:21451123|REF_RGD_ID:11060138 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocystic carcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17384584|PMID:17704260|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22722830|PMID:23182985|PMID:23406027|PMID:25157968|PMID:26242988|PMID:28492532|PMID:6695174 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0080365 endometrial hyperplasia ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:19419940|REF_RGD_ID:2314912 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17468812|PMID:17551339|PMID:17601930|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17910045|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18594010|PMID:18628094|PMID:18794081|PMID:18922928|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20112233|PMID:20147967|PMID:20526288|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949522|PMID:20949621|PMID:20978259|PMID:21062266|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21686179|PMID:21784453|PMID:21871821|PMID:21909114|PMID:21975775|PMID:22025163|PMID:22211815|PMID:22392911|PMID:22407852|PMID:22488932|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:22980975|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23321623|PMID:23406027|PMID:23531339|PMID:23548132|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24382853|PMID:24558511|PMID:24703799|PMID:24720724|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25251940|PMID:25326635|PMID:25326637|PMID:25359213|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26521233|PMID:26580448|PMID:26623049|PMID:26822237|PMID:26970110|PMID:26985062|PMID:27450488|PMID:28492532|PMID:28583095|PMID:28650561|PMID:29298116|PMID:29402968|PMID:29493581|PMID:29948256|PMID:30289595|PMID:30443000|PMID:30732632|PMID:30891959|PMID:31117243|PMID:3122217|PMID:31891627|PMID:32078254|PMID:33452774|PMID:3627975|PMID:7773929|PMID:7877967|PMID:8234268|PMID:8246952|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0080690 RASopathy ISO RGD:1350859 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:11745231|PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16051643|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17468812|PMID:17551339|PMID:17576681|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17910045|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18594010|PMID:18628094|PMID:18794081|PMID:18922928|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20112233|PMID:20147967|PMID:20186801|PMID:20526288|PMID:20570890|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949522|PMID:20949621|PMID:20972464|PMID:20978259|PMID:21062266|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21686179|PMID:21784453|PMID:21871821|PMID:21909114|PMID:21975775|PMID:22025163|PMID:22211815|PMID:22392911|PMID:22407852|PMID:22488932|PMID:22495831|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22980975|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23321623|PMID:23325582|PMID:23406027|PMID:23531339|PMID:23548132|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24382853|PMID:24558511|PMID:24703799|PMID:24720724|PMID:24803665|PMID:24836576|PMID:25044103|PMID:25157968|PMID:25251940|PMID:25326635|PMID:25326637|PMID:25359213|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26242988|PMID:26521233|PMID:26623049|PMID:26822237|PMID:26970110|PMID:26985062|PMID:28492532|PMID:28583095|PMID:28650561|PMID:29298116|PMID:29402968|PMID:29493581|PMID:29758562|PMID:29948256|PMID:30289595|PMID:30443000|PMID:30448735|PMID:30732632|PMID:30891959|PMID:31069529|PMID:31117243|PMID:3122217|PMID:31666701|PMID:31891627|PMID:31974414|PMID:32078254|PMID:32581362|PMID:32934698|PMID:33452774|PMID:34117033|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8234268|PMID:8246952|PMID:8439212|PMID:9536098 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0080764 hereditary diffuse gastric cancer ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:12110640|PMID:14982869|PMID:17056636|PMID:17324647|PMID:18628094|PMID:20652921|PMID:20949621|PMID:24033266|PMID:24803665|PMID:25741868|PMID:28492532|PMID:29948256 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0080777 lung sarcomatoid carcinoma ISO RGD:1350859 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lung sarcomatoid carcinoma PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:18316791|PMID:19018267|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20921462|PMID:20921465|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22235099|PMID:22407852|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23096712|PMID:23406027|PMID:24033266|PMID:24138715|PMID:25157968|PMID:25741868|PMID:26372703|PMID:29298116|PMID:3122217|PMID:31891627|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1350859 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:18316791|PMID:19018267|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20921462|PMID:20921465|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22235099|PMID:22407852|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23096712|PMID:23406027|PMID:24033266|PMID:24138715|PMID:25157968|PMID:25741868|PMID:26372703|PMID:29298116|PMID:3122217|PMID:31891627|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:1350859 D RGD:7240710 20180130 OMIM 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0110117 autoimmune lymphoproliferative syndrome type 4 ISO RGD:1350859 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 4 | ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24803665|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26623049|PMID:27577878|PMID:28492532|PMID:29298116|PMID:29493581|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:3627975|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0111162 epidermal nevus ISO RGD:1350859 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24138715|PMID:24558511|PMID:24720724|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26372703|PMID:26623049|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:3627975|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0111460 cardiofaciocutaneous syndrome 1 ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:17056636|PMID:18958496|PMID:21784453|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8234268 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0111461 cardiofaciocutaneous syndrome 2 ISO RGD:1350859 D RGD:7240710 20180130 OMIM 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0111461 cardiofaciocutaneous syndrome 2 ISO RGD:1350859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 PMID:12110640|PMID:14982869|PMID:16474404|PMID:16474405|PMID:16773572|PMID:17056636|PMID:17324647|PMID:17409930|PMID:17551339|PMID:17875937|PMID:17875939|PMID:18386799|PMID:18456719|PMID:18628094|PMID:19396835|PMID:20652921|PMID:20949621|PMID:21062266|PMID:21797849|PMID:21871821|PMID:23059812|PMID:24033266|PMID:24703799|PMID:24803665|PMID:25326637|PMID:25741868|PMID:26037647|PMID:26242988|PMID:28492532|PMID:28650561|PMID:29493581|PMID:29948256|PMID:30732632|PMID:8246952 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1350859 D RGD:7240710 20180130 OMIM 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0111530 linear nevus sebaceous syndrome ISO RGD:1350859 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Linear nevus sebaceous PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24138715|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26372703|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0111705 oculoectodermal syndrome ISO RGD:1350859 D RGD:7240710 20190918 OMIM 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:0111705 oculoectodermal syndrome ISO RGD:1350859 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20147967|PMID:20570890|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:20978259|PMID:21063026|PMID:21228335|PMID:21371307|PMID:21398618|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24740626|PMID:24803665|PMID:24836576|PMID:25157968|PMID:25251940|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29948256|PMID:30289595|PMID:30448735|PMID:30891959|PMID:3122217|PMID:32934698|PMID:34117033|PMID:3627975|PMID:8456858 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:10283 prostate cancer ISO RGD:1550157 D RGD:9068941 20220825 MouseDO OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:1040 chronic lymphocytic leukemia ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic lymphatic leukemia PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:10534 stomach cancer ISO RGD:1350859 D RGD:7240710 20220209 OMIM 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:10534 stomach cancer ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Stomach cancer PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18594010|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26242988|PMID:26521233|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:1059 intellectual disability ISO RGD:1350859 D RGD:9068941 20200609 RGD Costello syndrome, OMIM:218040 DNA:transversion:CDS:heterozygous 15A>T, amino acid K5N PMID:17056636|REF_RGD_ID:1600477 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:10763 hypertension ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:15864294|REF_RGD_ID:1581757 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:1350859 D RGD:7240710 20180130 OMIM 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:11054 urinary bladder cancer ISO RGD:1350859 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Bladder cancer, transitional cell, somatic PMID:12110640|PMID:12460918|PMID:14982869|PMID:1553789|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17384584|PMID:17409930|PMID:17704260|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22722830|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24803665|PMID:24836576|PMID:25157968|PMID:25741868|PMID:26242988|PMID:26970110|PMID:28492532|PMID:29948256|PMID:30448735|PMID:30891959|PMID:6695174 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:1107 esophageal carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:16361624|PMID:16618717|PMID:18316791|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:26619011|PMID:30891959 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:12930 dilated cardiomyopathy ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:15864294|REF_RGD_ID:1581757 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:1324 lung cancer ISO RGD:1350859 D RGD:7240710 20240124 OMIM 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:1324 lung cancer ISO RGD:1350859 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:12110640|PMID:14982869|PMID:17056636|PMID:17324647|PMID:17409930|PMID:18456719|PMID:18628094|PMID:20652921|PMID:20949621|PMID:24033266|PMID:24803665|PMID:25741868|PMID:28492532|PMID:29948256 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:14566 disease of cellular proliferation ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673434|PMID:26595770 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:1612 breast cancer ISO RGD:1350859 D RGD:7240710 20180711 OMIM 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:1612 breast cancer ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20978259|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25157968|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26623049|PMID:28492532|PMID:3122217|PMID:3627975 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:1749 squamous cell carcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19435901|PMID:25125259 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:1793 pancreatic cancer ISO RGD:1350859 D RGD:7240710 20180130 OMIM 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:11115351|REF_RGD_ID:1581761 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:1909 melanoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:2355 anemia ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:2671 transitional cell carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:2870 endometrial adenocarcinoma ISO RGD:2981 D RGD:9068941 20200609 RGD DNA:point mutation:CDS:p.G12D, p.G12S, p.Q61H (rat) PMID:10775052|REF_RGD_ID:1600499 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:2871 endometrial carcinoma ISO RGD:1350859 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:11745231|PMID:12460918|PMID:15696205|PMID:16051643|PMID:16361624|PMID:16474405|PMID:16618717|PMID:16987887|PMID:17056636|PMID:17384584|PMID:17704260|PMID:17875937|PMID:18316791|PMID:18794081|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:21686179|PMID:21784453|PMID:21975775|PMID:23014527|PMID:23182985|PMID:23406027|PMID:23885229|PMID:24033266|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25359213|PMID:25741868|PMID:26242988|PMID:28492532|PMID:29493581|PMID:31666701|PMID:35658005|PMID:6320174 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:289 endometriosis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23284138 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:289 endometriosis ISO RGD:1550157 D RGD:9068941 20220825 MouseDO OMIM:131200 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:299 adenocarcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11745231|PMID:16247444|PMID:20101149 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:305 carcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545420|PMID:20565773 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma ISO RGD:1350859 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:19179066|REF_RGD_ID:13702872 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3068 glioblastoma treatment ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:16166301|REF_RGD_ID:13702861 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23817572 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma ISO RGD:1350859 D RGD:9068941 20200609 RGD sporadic pilocytic astrocytoma, OMIM:137800 DNA:transversion:CDS:amino acid G13R PMID:16247081|REF_RGD_ID:1600476 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3069 malignant astrocytoma susceptibility ISO RGD:11440 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G12D(mouse) PMID:24038521|REF_RGD_ID:13702858 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3070 high grade glioma severity ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:22207524|REF_RGD_ID:13702477 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3070 high grade glioma severity ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:19435821|REF_RGD_ID:13702860 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3078 anaplastic astrocytoma ISO RGD:1350859 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:19179066|REF_RGD_ID:13702872 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3121 gallbladder cancer ISO RGD:1350859 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:11745231|PMID:12460918|PMID:15696205|PMID:16051643|PMID:16361624|PMID:16618717|PMID:17384584|PMID:17704260|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:23014527|PMID:23182985|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25741868|PMID:26242988|PMID:28492532|PMID:31666701|PMID:35658005|PMID:6320174 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3307 teratoma ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3458 breast adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast adenocarcinoma, somatic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20978259|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:25157968|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26623049|PMID:28492532|PMID:3122217|PMID:3627975 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3490 Noonan syndrome ISO RGD:1350859 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:10590419|PMID:10681080|PMID:12110640|PMID:12460918|PMID:14982869|PMID:16361624|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16921267|PMID:16987887|PMID:17056636|PMID:17211612|PMID:17324647|PMID:17384584|PMID:17468812|PMID:17551339|PMID:17601930|PMID:17704260|PMID:17875937|PMID:17875939|PMID:17994553|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18509354|PMID:18628094|PMID:18794081|PMID:18922928|PMID:18958496|PMID:19020799|PMID:19114683|PMID:19255327|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20112233|PMID:20186801|PMID:20526288|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949621|PMID:21062266|PMID:21228335|PMID:21686179|PMID:21779504|PMID:21784453|PMID:21871821|PMID:21909114|PMID:22211815|PMID:22250184|PMID:22488932|PMID:22495831|PMID:22980975|PMID:23321623|PMID:23406027|PMID:23531339|PMID:23548132|PMID:23885229|PMID:24033266|PMID:24037001|PMID:24382853|PMID:24703799|PMID:24803665|PMID:25157968|PMID:25326637|PMID:25359213|PMID:25741868|PMID:26037647|PMID:26242988|PMID:26985062|PMID:28492532|PMID:28650561|PMID:29402968|PMID:29493581|PMID:29758562|PMID:29948256|PMID:30415384|PMID:30732632|PMID:31117243|PMID:32078254|PMID:33452774|PMID:8234268|PMID:8246952 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25347530|PMID:30654191 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:363 uterine cancer ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3717 gastric adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3883 Lynch syndrome ISO RGD:1350859 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3905 lung carcinoma ISO RGD:1350859 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16051643|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26242988|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31666701|PMID:31891627|PMID:35658005|PMID:6320174|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3907 lung squamous cell carcinoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17384584|PMID:17704260|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:25157968|PMID:26242988|PMID:26619011|PMID:28492532|PMID:3122217|PMID:6695174 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350859 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16051643|PMID:16247081|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16618717|PMID:17062680|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19396835|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20526288|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20926413|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22282465|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:23548132|PMID:24033266|PMID:24138715|PMID:24382853|PMID:24558511|PMID:24628546|PMID:24720724|PMID:24836576|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26619011|PMID:26623049|PMID:26970110|PMID:26985062|PMID:27577878|PMID:28492532|PMID:29298116|PMID:29493581|PMID:30443000|PMID:30448735|PMID:30732632|PMID:30891959|PMID:3122217|PMID:31666701|PMID:31891627|PMID:32581362|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11745231|PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23014527|PMID:23182985|PMID:23325582|PMID:23406027|PMID:25044103|PMID:25157968|PMID:26619011|PMID:3122217|PMID:31666701|PMID:6320174 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3910 lung adenocarcinoma ISO RGD:1350859 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:11745231|PMID:12460918|PMID:15696205|PMID:16051643|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17384584|PMID:17704260|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23014527|PMID:23182985|PMID:23325582|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25741868|PMID:26242988|PMID:26619011|PMID:28492532|PMID:3122217|PMID:31666701|PMID:35658005|PMID:6320174 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27440272 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medullary thyroid gland carcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:23406027|PMID:24033266|PMID:25157968 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:4440 seminoma ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:8816895|REF_RGD_ID:2314915 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:4450 renal cell carcinoma ISO RGD:1350859 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:11851621|REF_RGD_ID:2314914 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:4851 pilocytic astrocytoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic PMID:12460918|PMID:15696205|PMID:16247081|PMID:16361624|PMID:16618717|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:21228335|PMID:23406027|PMID:24033266|PMID:25157968 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:4905 pancreatic carcinoma ISO RGD:1350859 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24138715|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26372703|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:1550157 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:26059825|REF_RGD_ID:11075076 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:2981 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:26059825|REF_RGD_ID:11075076 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:4927 Klatskin's tumor disease_progression ISO RGD:1350859 D RGD:9068941 20210430 RGD DNA:mutations PMID:33387086|REF_RGD_ID:126848756 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1550157 D RGD:9068941 20220825 MouseDO 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD DNA:mutations:: PMID:24139215|REF_RGD_ID:14398746 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:4947 cholangiocarcinoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520|PMID:8968066 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:5517 stomach carcinoma ISO RGD:1350859 D RGD:9068941 20200609 RGD gastric cancer, OMIM:137215 DNA:point_mutation:CDS:amino acid G12S PMID:7773929|REF_RGD_ID:1600468 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1550157 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.G12D (mouse) PMID:23673656|REF_RGD_ID:11060136 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:5744 ovary serous adenocarcinoma ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:630 genetic disease ISO RGD:1350859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16474404|PMID:16474405|PMID:16618717|PMID:16773572|PMID:16987887|PMID:17056636|PMID:17332249|PMID:17384584|PMID:17551339|PMID:17704260|PMID:17875937|PMID:18316791|PMID:18386799|PMID:18456719|PMID:18794081|PMID:18958496|PMID:19018267|PMID:19020799|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19396835|PMID:19679400|PMID:19773371|PMID:20921462|PMID:20921465|PMID:20949621|PMID:20978259|PMID:21062266|PMID:21063026|PMID:21228335|PMID:21398618|PMID:21686179|PMID:21784453|PMID:21871821|PMID:21975775|PMID:22392911|PMID:22407852|PMID:22571758|PMID:22734028|PMID:2278970|PMID:23182985|PMID:23406027|PMID:23885229|PMID:24033266|PMID:24356096|PMID:24558511|PMID:24703799|PMID:24720724|PMID:24728327|PMID:24803665|PMID:25157968|PMID:25326637|PMID:25359213|PMID:2547513|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26037647|PMID:26242988|PMID:26623049|PMID:26854235|PMID:28492532|PMID:28650561|PMID:29493581|PMID:3122217|PMID:3627975 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:6536 plasma cell neoplasm ISO RGD:1350859 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:657 adenoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545420|PMID:10813127|PMID:25851810|PMID:8761429 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:6726 fibrillary astrocytoma ISO RGD:1350859 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:19179066|REF_RGD_ID:13702872 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:684 hepatocellular carcinoma induced ISO RGD:2981 D RGD:9068941 20200609 RGD aflatoxin B1 induced:DNA:transversion,transition mutations:cds: PMID:8446626|REF_RGD_ID:11568697 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:7235 pancreatic mucinous cystadenoma severity ISO RGD:1350859 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:28570009|REF_RGD_ID:14398747 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:767 muscular atrophy ISO RGD:2981 D RGD:9068941 20220224 RGD associated with microgravity; mRNA:increased expression:gastrocnemius (rat) PMID:14638460|REF_RGD_ID:151361116 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:769 neuroblastoma ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:8552 chronic myeloid leukemia ISO RGD:1350859 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:18316791|PMID:19018267|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20921462|PMID:20921465|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22235099|PMID:22407852|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23096712|PMID:23406027|PMID:24033266|PMID:24138715|PMID:25157968|PMID:25741868|PMID:26372703|PMID:29298116|PMID:3122217|PMID:31891627|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:8567 Hodgkin's lymphoma ISO RGD:1350859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:16361624|PMID:16618717|PMID:18316791|PMID:19114683|PMID:19679400|PMID:20147967|PMID:20570890|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21398618|PMID:25157968|PMID:25251940|PMID:26110767|PMID:26970110|PMID:28492532|PMID:30289595|PMID:30891959|PMID:32934698 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:8634 prostate carcinoma in situ ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:19117991|REF_RGD_ID:2314913 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:8683 myeloid sarcoma ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute;DNA:missense mutation:exon:p.G12C (human) PMID:23564351|REF_RGD_ID:11060142 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:8923 skin melanoma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:30891959|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24997986 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9000217 Stomach Neoplasms ISO RGD:1350859 D RGD:9068941 20230223 CTD CTD Direct Evidence: marker/mechanism PMID:10874023|PMID:11397402 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9000918 Disease Progression ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30654191 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635384 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1550157 D RGD:9068941 20200609 RGD associated with Fibrosarcoma;mRNA,protein:decreased expression:: PMID:3552201|REF_RGD_ID:11570402 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutation: : PMID:29032374|REF_RGD_ID:14398745 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with colorectal cancer; DNA:mutation:cds: PMID:27264476|REF_RGD_ID:14398751 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with colorectal cancer;DNA:mutations: : PMID:26210240|REF_RGD_ID:11086960 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1350859 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9001039 Leukocytosis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8603461 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9001586 Experimental Liver Neoplasms disease_progression ISO RGD:2981 D RGD:9068941 20220707 RGD mRNA:increased expression:liver (rat) PMID:19533683|REF_RGD_ID:2315050 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9002170 Experimental Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10813127|PMID:21311774|PMID:25851810|PMID:26390243|PMID:9205081 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, B-cell, chronic PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19075190|PMID:19114683|PMID:19679400|PMID:20921462|PMID:20921465|PMID:21228335|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23325582|PMID:25157968|PMID:26619011|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9002265 Kidney Neoplasms ISO RGD:2981 D RGD:9068941 20200609 RGD PMID:9020896|REF_RGD_ID:11570401 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1550157 D RGD:9068941 20200609 RGD PMID:19117991|REF_RGD_ID:2314913 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9002650 Sebaceous Nevus Syndrome and Hemimegalencephaly ISO RGD:1350859 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24138715|PMID:24803665|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:26372703|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9002720 Splenomegaly ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1350859 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16051643|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22282465|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24138715|PMID:24558511|PMID:24720724|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26623049|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31666701|PMID:31891627|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9002801 Recurrence ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26121086 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9002840 Endometrial Hyperplasia without Atypia ISO RGD:1350859 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Endometrial hyperplasia without atypia PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9002928 Colonic Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10813127|PMID:12800193|PMID:12839936|PMID:17192441|PMID:18372904|PMID:19424582 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9003191 Vascular Malformations ISO RGD:1350859 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Vascular malformation PMID:25741868 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9003196 Penile Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18355852 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 RGD DNA:point mutation:exon (human) PMID:14984964|REF_RGD_ID:2314838 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9003571 Paraproteinemias ISO RGD:1350859 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9003694 Cecal Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1350859 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:19542870|REF_RGD_ID:2314910 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9004268 Uterine Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17325976 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9004547 Thyroid Neoplasms ISO RGD:1350859 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16051643|PMID:16247081|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20526288|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24138715|PMID:24558511|PMID:24628546|PMID:24720724|PMID:24836576|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26619011|PMID:26623049|PMID:26970110|PMID:26985062|PMID:28492532|PMID:29298116|PMID:30443000|PMID:30448735|PMID:30891959|PMID:3122217|PMID:31666701|PMID:31891627|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9005062 Prostate Cancer, Hereditary, 1 ISO RGD:1350859 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:17056636|PMID:17468812|PMID:17704260|PMID:18386799|PMID:20949621|PMID:21909114|PMID:22211815|PMID:24033266|PMID:24037001|PMID:24803665|PMID:25741868|PMID:28492532|PMID:28583095|PMID:29402968|PMID:32078254|PMID:33452774 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9005172 Lung Neoplasms ISO RGD:1350859 D RGD:9068941 20240125 CTD CTD Direct Evidence: marker/mechanism PMID:10223196|PMID:10545420|PMID:10874023|PMID:11641043|PMID:11745231|PMID:11884234|PMID:12376484|PMID:12725029|PMID:16247444|PMID:16271038|PMID:16289808|PMID:16410370|PMID:16823377|PMID:17233834|PMID:17290066|PMID:17325976|PMID:18062963|PMID:18758463|PMID:18927287|PMID:19336973|PMID:19424582|PMID:19555203|PMID:20101149|PMID:21519798|PMID:22028818|PMID:25851810|PMID:26390243|PMID:29247004|PMID:33380422|PMID:7614698|PMID:7750092|PMID:8508514|PMID:8597069|PMID:8761429 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9005172 Lung Neoplasms ISO RGD:1550157 D RGD:9068941 20240125 RGD PMID:19966866|REF_RGD_ID:11568678 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9005474 Experimental Sarcoma ISO RGD:2981 D RGD:9068941 20200609 RGD A to T transversion; Gln to His substitution PMID:11295286|REF_RGD_ID:1598680 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9005612 Endometrial Intraepithelial Neoplasia ISO RGD:1350859 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Atypical endometrial hyperplasia PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9006205 Animal Disease Models ISO RGD:1350859 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:26390243|PMID:27588471|PMID:33380422 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30654191 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:1550157 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9006971 Thyroid Carcinoma, Nonmedullary 1 ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9007188 Liver Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10629081|PMID:12211074 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9007364 Mouth Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19435901 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2981 D RGD:9068941 20200609 RGD PMID:8913708|REF_RGD_ID:11062095 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27510461 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9007632 Encephalocraniocutaneous Lipomatosis ISO RGD:1350859 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20147967|PMID:20570890|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21228335|PMID:21371307|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22734028|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23406027|PMID:24033266|PMID:24558511|PMID:24720724|PMID:24740626|PMID:24836576|PMID:25044103|PMID:25157968|PMID:25251940|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26619011|PMID:26623049|PMID:26970110|PMID:28492532|PMID:29298116|PMID:30289595|PMID:30443000|PMID:30448735|PMID:30891959|PMID:3122217|PMID:31891627|PMID:32934698|PMID:34117033|PMID:3627975|PMID:7773929|PMID:8439212|PMID:8456858 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9007653 Multiple Abnormalities ISO RGD:1350859 D RGD:9068941 20200609 RGD Costello syndrome, OMIM:218040 DNA:transversion:CDS:heterozygous 15A>T, amino acid K5N PMID:17056636|REF_RGD_ID:1600477 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9007702 Carcinogenesis ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26595770|PMID:29247004 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:19960433|REF_RGD_ID:2314907 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9008386 Hydrops Fetalis ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:24549645|PMID:25741868 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350859 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:11745231|PMID:12460918|PMID:12720172|PMID:15093544|PMID:1553789|PMID:15696205|PMID:15842656|PMID:16051643|PMID:16247081|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18594010|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19794967|PMID:19881948|PMID:20147967|PMID:20526288|PMID:20570890|PMID:20609353|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22282465|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24138715|PMID:24558511|PMID:24628546|PMID:24720724|PMID:24836576|PMID:25044103|PMID:25157968|PMID:25251940|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26110767|PMID:26242988|PMID:26372703|PMID:26521233|PMID:26619011|PMID:26623049|PMID:26970110|PMID:26985062|PMID:27577878|PMID:28492532|PMID:29298116|PMID:29493581|PMID:30289595|PMID:30443000|PMID:30448735|PMID:30891959|PMID:3122217|PMID:31666701|PMID:31891627|PMID:32581362|PMID:32934698|PMID:35658005|PMID:3627975|PMID:6320174|PMID:6695174|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:1350859 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 PMID:12460918|PMID:12720172|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17332249|PMID:17384584|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19358724|PMID:19679400|PMID:19773371|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:21079152|PMID:21228335|PMID:21975775|PMID:22025163|PMID:22407852|PMID:22499344|PMID:22683711|PMID:2278970|PMID:23014527|PMID:23096712|PMID:23255105|PMID:23406027|PMID:25044103|PMID:25157968|PMID:25695684|PMID:25741868|PMID:28492532|PMID:29298116|PMID:30443000|PMID:3122217|PMID:31891627|PMID:7773929|PMID:8439212 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9008939 Breast Neoplasms ISO RGD:1350859 D RGD:9068941 20200609 RGD breast adenocarcinoma cell line, OMIM:114480 DNA:point_mutation:CDS:amino acid G13D PMID:3627975|REF_RGD_ID:1600466 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1350859 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12110640|PMID:14645534|PMID:14982869|PMID:16474404|PMID:16474405|PMID:16773572|PMID:17056636|PMID:17324647|PMID:17409930|PMID:17551339|PMID:17875937|PMID:18456719|PMID:18628094|PMID:20652921|PMID:20949621|PMID:21062266|PMID:21871821|PMID:22495831|PMID:24033266|PMID:24703799|PMID:24803665|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28583095|PMID:29948256|PMID:31117243|PMID:9362444 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:1350859 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:12110640|PMID:12460918|PMID:14982869|PMID:15696205|PMID:16361624|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17384584|PMID:17409930|PMID:17704260|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:20652921|PMID:20921462|PMID:20921465|PMID:20949621|PMID:21228335|PMID:21975775|PMID:22722830|PMID:23182985|PMID:23406027|PMID:24033266|PMID:24803665|PMID:24836576|PMID:25157968|PMID:25741868|PMID:26242988|PMID:26970110|PMID:28492532|PMID:29948256|PMID:30448735|PMID:30891959|PMID:6695174 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:1350859 D RGD:7240710 20180130 OMIM 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9119 acute myeloid leukemia ISO RGD:1350859 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic PMID:12110640|PMID:12460918|PMID:12720172|PMID:14982869|PMID:15093544|PMID:15696205|PMID:15842656|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17056636|PMID:17324647|PMID:17332249|PMID:17384584|PMID:17409930|PMID:17704260|PMID:17910045|PMID:18316791|PMID:18456719|PMID:18628094|PMID:18794081|PMID:19018267|PMID:19029981|PMID:19047918|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19349489|PMID:19358724|PMID:19679400|PMID:19773371|PMID:19881948|PMID:20609353|PMID:20652921|PMID:20805368|PMID:20921462|PMID:20921465|PMID:20949522|PMID:20949621|PMID:20978259|PMID:21063026|PMID:21079152|PMID:21169357|PMID:21228335|PMID:21398618|PMID:21975775|PMID:22025163|PMID:22235099|PMID:22392911|PMID:22407852|PMID:22499344|PMID:22571758|PMID:22683711|PMID:22722830|PMID:22734028|PMID:2278970|PMID:22897852|PMID:23014527|PMID:23096712|PMID:23182985|PMID:23255105|PMID:23325582|PMID:23406027|PMID:24033266|PMID:24138715|PMID:24558511|PMID:24720724|PMID:24803665|PMID:25044103|PMID:25157968|PMID:2547513|PMID:25695684|PMID:25705018|PMID:25741868|PMID:25808193|PMID:26372703|PMID:26619011|PMID:26623049|PMID:28492532|PMID:29298116|PMID:29948256|PMID:30443000|PMID:3122217|PMID:31891627|PMID:32581362|PMID:3627975|PMID:7773929|PMID:8439212|PMID:8955068 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350859 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:12460918|PMID:15696205|PMID:16361624|PMID:16618717|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19114683|PMID:19679400|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:23182985|PMID:25157968|PMID:25741868 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9256 colorectal cancer disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.GLY12ASP,GLY12Val,GLY13ALA,GLY13ASP(human) PMID:22971512|REF_RGD_ID:14398748 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:1350859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9538 multiple myeloma ISO RGD:1350859 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:12460918|PMID:15696205|PMID:16361624|PMID:16434492|PMID:16618717|PMID:17062680|PMID:17384584|PMID:18316791|PMID:18794081|PMID:19018267|PMID:19075190|PMID:19114683|PMID:19255327|PMID:19679400|PMID:19773371|PMID:19794967|PMID:20921462|PMID:20921465|PMID:21228335|PMID:21975775|PMID:22282465|PMID:22407852|PMID:22722830|PMID:2278970|PMID:23182985|PMID:23325582|PMID:23406027|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30891959|PMID:3122217 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:17910045|REF_RGD_ID:11060148 9002103 Kras KRAS proto-oncogene, GTPase gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1350859 D RGD:9068941 20200609 RGD PMID:25917266|REF_RGD_ID:11060149 9002122 Marchf9 membrane associated ring-CH-type finger 9 gene DOID:630 genetic disease ISO RGD:1351043 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002122 Marchf9 membrane associated ring-CH-type finger 9 gene DOID:6846 familial melanoma ISO RGD:1351043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 9002165 Crybg1 crystallin beta-gamma domain containing 1 gene DOID:1909 melanoma ISO RGD:1318513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22402438 9002165 Crybg1 crystallin beta-gamma domain containing 1 gene DOID:630 genetic disease ISO RGD:1318513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002165 Crybg1 crystallin beta-gamma domain containing 1 gene DOID:9000918 Disease Progression ISO RGD:1318513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22402438 9002165 Crybg1 crystallin beta-gamma domain containing 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9002193 Kif16b kinesin family member 16B gene DOID:10283 prostate cancer ISO RGD:1320877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9002193 Kif16b kinesin family member 16B gene DOID:1059 intellectual disability ISO RGD:1320877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9002193 Kif16b kinesin family member 16B gene DOID:630 genetic disease ISO RGD:1320877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002193 Kif16b kinesin family member 16B gene DOID:767 muscular atrophy ISO RGD:1320877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular atrophy PMID:25741868 9002231 IL4R interleukin 4 receptor gene DOID:2841 asthma ISO RGD:735615 D RGD:9068941 20200609 RGD protein:increased secretion:plasma PMID:15479272|REF_RGD_ID:4890351 9002231 Il4r interleukin 4 receptor gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.Q551R (human) PMID:11164908|REF_RGD_ID:1358313 9002231 Il4r interleukin 4 receptor gene DOID:0060500 drug allergy ISO RGD:10798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 9002231 Il4r interleukin 4 receptor gene DOID:0080600 COVID-19 ISO RGD:735615 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9002231 Il4r interleukin 4 receptor gene DOID:10533 viral pneumonia ISO RGD:735615 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9002231 Il4r interleukin 4 receptor gene DOID:11204 allergic conjunctivitis susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD associated with rhinitis; DNA:SNP: : rs2107356 (human) PMID:20002627|REF_RGD_ID:4890389 9002231 Il4r interleukin 4 receptor gene DOID:11963 esophagitis susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung;DNA:SNP: :rs1801275(human) PMID:20811626|REF_RGD_ID:5131286 9002231 Il4r interleukin 4 receptor gene DOID:12053 cryptococcosis ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:18954266|REF_RGD_ID:4890005 9002231 Il4r interleukin 4 receptor gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735615 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18758789|REF_RGD_ID:2317669 9002231 Il4r interleukin 4 receptor gene DOID:2377 multiple sclerosis ISO RGD:735615 D RGD:9068941 20200609 RGD PMID:14712310|REF_RGD_ID:4890395 9002231 Il4r interleukin 4 receptor gene DOID:2841 asthma ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:20605987|PMID:20953944|REF_RGD_ID:5128514|REF_RGD_ID:5128553 9002231 Il4r interleukin 4 receptor gene DOID:2841 asthma ISO RGD:10798 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.Q576R (mouse) PMID:19770271|REF_RGD_ID:4890003 9002231 Il4r interleukin 4 receptor gene DOID:2841 asthma ISO RGD:10798 D RGD:9068941 20220825 MouseDO OMIM:600807 9002231 Il4r interleukin 4 receptor gene DOID:2841 asthma ISO RGD:735615 D RGD:9068941 20200609 RGD PMID:11398072|PMID:16917945|REF_RGD_ID:4890352|REF_RGD_ID:4890406 9002231 Il4r interleukin 4 receptor gene DOID:2841 asthma disease_progression ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.E375A, Q551R (human) PMID:17170387|REF_RGD_ID:4890349 9002231 Il4r interleukin 4 receptor gene DOID:2841 asthma severity ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V (human) PMID:18425216|REF_RGD_ID:4890346 9002231 Il4r interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:17823973|REF_RGD_ID:4890347 9002231 Il4r interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p. I75V, Q576R (human) PMID:12133990|REF_RGD_ID:4890404 9002231 Il4r interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism::-1902G/A (human) PMID:20868478|REF_RGD_ID:4890387 9002231 Il4r interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p. S478P (human) PMID:11709756|REF_RGD_ID:4890024 9002231 Il4r interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Q551R (human) PMID:17586032|REF_RGD_ID:4890348 9002231 Il4r interleukin 4 receptor gene DOID:2841 asthma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Q576R (human) PMID:12940513|REF_RGD_ID:4890402 9002231 Il4r interleukin 4 receptor gene DOID:2957 pulmonary tuberculosis ISO RGD:735615 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21251883|REF_RGD_ID:5128510 9002231 Il4r interleukin 4 receptor gene DOID:3082 interstitial lung disease ISO RGD:735615 D RGD:9068941 20200609 RGD Idiopathic Interstitial Pneumonias PMID:15161635|REF_RGD_ID:4890021 9002231 Il4r interleukin 4 receptor gene DOID:3261 hyper IgE recurrent infection syndrome 1 no_association ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.Q576R(human) PMID:9537881|REF_RGD_ID:11530003 9002231 Il4r interleukin 4 receptor gene DOID:3310 atopic dermatitis susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.Q576R(human) PMID:9392697|REF_RGD_ID:11530001 9002231 Il4r interleukin 4 receptor gene DOID:350 mastocytosis ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:23149659|REF_RGD_ID:7829822 9002231 Il4r interleukin 4 receptor gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735615 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17942922|REF_RGD_ID:2317264 9002231 Il4r interleukin 4 receptor gene DOID:4450 renal cell carcinoma ISO RGD:735615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22317767|PMID:30472377 9002231 Il4r interleukin 4 receptor gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V (human) PMID:12171893|REF_RGD_ID:7207070 9002231 Il4r interleukin 4 receptor gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V (human) PMID:22317767|REF_RGD_ID:7207066 9002231 Il4r interleukin 4 receptor gene DOID:4483 rhinitis ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.1432T>C (human) PMID:15564773|REF_RGD_ID:4890394 9002231 Il4r interleukin 4 receptor gene DOID:4947 cholangiocarcinoma ISO RGD:735615 D RGD:9068941 20200609 RGD mRNA:increased expression:bile duct PMID:18798553|REF_RGD_ID:2317263 9002231 Il4r interleukin 4 receptor gene DOID:552 pneumonia ISO RGD:735615 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9002231 Il4r interleukin 4 receptor gene DOID:5844 myocardial infarction ISO RGD:2899 D RGD:9068941 20200609 RGD mRNA:increased expression:heart PMID:10807530|REF_RGD_ID:4889985 9002231 Il4r interleukin 4 receptor gene DOID:630 genetic disease ISO RGD:735615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002231 Il4r interleukin 4 receptor gene DOID:6543 acne ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.Q551R (human) PMID:22705603|REF_RGD_ID:7829779 9002231 Il4r interleukin 4 receptor gene DOID:7148 rheumatoid arthritis severity ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNP: :rs1805010 (human) PMID:24782180|REF_RGD_ID:10402783 9002231 Il4r interleukin 4 receptor gene DOID:8398 osteoarthritis ISO RGD:735615 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16647277|REF_RGD_ID:10402785 9002231 Il4r interleukin 4 receptor gene DOID:850 lung disease ISO RGD:10798 D RGD:9068941 20200609 RGD associated with respiratory syncytial virus infection PMID:20861354|REF_RGD_ID:4889995 9002231 Il4r interleukin 4 receptor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735615 D RGD:9068941 20200609 RGD mRNA:increased expression:gallbladder PMID:18798553|REF_RGD_ID:2317263 9002231 Il4r interleukin 4 receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2899 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord PMID:20623539|REF_RGD_ID:5128562 9002231 Il4r interleukin 4 receptor gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30472377 9002231 Il4r interleukin 4 receptor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:16890766|REF_RGD_ID:4890011 9002231 Il4r interleukin 4 receptor gene DOID:9001733 Tinnitus ISO RGD:735615 D RGD:9068941 20200609 RGD associated with Hearing Loss, Sudden;DNA:SNP: :p.Q576R (rs 180275) (human) PMID:16280132|REF_RGD_ID:7829784 9002231 Il4r interleukin 4 receptor gene DOID:9002669 Hypoxia ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:19380795|REF_RGD_ID:4890390 9002231 Il4r interleukin 4 receptor gene DOID:9002850 Immediate Hypersensitivity ISO RGD:10798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 9002231 Il4r interleukin 4 receptor gene DOID:9003817 Sudden Hearing Loss ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNP: :p.Q576R (rs 180275) (human) PMID:16280132|REF_RGD_ID:7829784 9002231 Il4r interleukin 4 receptor gene DOID:9004501 Meningeal Tuberculosis ISO RGD:735615 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21251883|REF_RGD_ID:5128510 9002231 Il4r interleukin 4 receptor gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs:promoter, exons:multiple PMID:20219689|REF_RGD_ID:10402786 9002231 Il4r interleukin 4 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:12165974|REF_RGD_ID:4889983 9002231 Il4r interleukin 4 receptor gene DOID:9006041 Osteoarthritis, Hip no_association ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.S411L, p.S727A (rs1805013, rs1805016) (human) PMID:19036616|REF_RGD_ID:10402784 9002231 Il4r interleukin 4 receptor gene DOID:9006041 Osteoarthritis, Hip susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs:multiple PMID:14745651|REF_RGD_ID:10402782 9002231 Il4r interleukin 4 receptor gene DOID:9006928 Viral Bronchiolitis ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:20404812|REF_RGD_ID:4889996 9002231 Il4r interleukin 4 receptor gene DOID:9006928 Viral Bronchiolitis ISO RGD:735615 D RGD:9068941 20200609 RGD associated with respiratory syncystial virus infection; DNA:polymorphism:cds:p. Q551R (human) PMID:12508140|REF_RGD_ID:4890022 9002231 Il4r interleukin 4 receptor gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1805011,rs2057768 (human) PMID:17703412|REF_RGD_ID:4889847 9002231 Il4r interleukin 4 receptor gene DOID:9007096 Stroke disease_progression ISO RGD:735615 D RGD:9068941 20200609 RGD PMID:24386991|REF_RGD_ID:11530005 9002231 Il4r interleukin 4 receptor gene DOID:9007096 Stroke susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.S503P(rs1805015)(human) PMID:14615367|REF_RGD_ID:11529997 9002231 Il4r interleukin 4 receptor gene DOID:9007356 Eczema ISO RGD:10798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19759553 9002231 Il4r interleukin 4 receptor gene DOID:9007356 Eczema susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNP: : rs2057768 (human) PMID:20002627|REF_RGD_ID:4890389 9002231 Il4r interleukin 4 receptor gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2899 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:19395316|REF_RGD_ID:4889981 9002231 Il4r interleukin 4 receptor gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:735615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atopy, resistance to | ClinVar Annotator: match by term: IgE responsiveness, atopic PMID:10233717|PMID:10905893|PMID:11709756|PMID:15173254|PMID:15712015|PMID:16189667|PMID:2278997|PMID:2307934|PMID:25741868|PMID:28492532|PMID:9392697|PMID:9515586|PMID:9537881|PMID:9620765 9002231 Il4r interleukin 4 receptor gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:10798 D RGD:9068941 20200609 RGD PMID:12297806|REF_RGD_ID:11530017 9002231 Il4r interleukin 4 receptor gene DOID:9008821 Otitis Media with Effusion treatment ISO RGD:2899 D RGD:9068941 20200609 RGD PMID:12297806|REF_RGD_ID:11530017 9002231 Il4r interleukin 4 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:735615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11918534 9002231 Il4r interleukin 4 receptor gene DOID:9538 multiple myeloma susceptibility ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:SNP: :-228120T>C(rs2107356)(human) PMID:17315188|REF_RGD_ID:11040938 9002231 Il4r interleukin 4 receptor gene DOID:9733 renal tuberculosis ISO RGD:735615 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.I50V (human) PMID:19548368|REF_RGD_ID:7207069 9002231 Il4r interleukin 4 receptor gene DOID:9733 renal tuberculosis ISO RGD:735615 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21251883|REF_RGD_ID:5128510 9002261 Nmd3 NMD3 ribosome export adaptor gene DOID:10283 prostate cancer ISO RGD:1348373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9002261 Nmd3 NMD3 ribosome export adaptor gene DOID:630 genetic disease ISO RGD:1348373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0050589 inflammatory bowel disease treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22018461|REF_RGD_ID:7495770 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0060180 colitis treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:17543437|REF_RGD_ID:2298659 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0090039 torsion dystonia 6 ISO RGD:733968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111959 immunodeficiency 15B ISO RGD:733968 D RGD:7240710 20180130 OMIM 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111959 immunodeficiency 15B ISO RGD:733968 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:10195897|PMID:17576681|PMID:24033266|PMID:24369075|PMID:24679846|PMID:25139357|PMID:25216719|PMID:25741868|PMID:26122175|PMID:28492532|PMID:30335863|PMID:32117824|PMID:9536098 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111960 immunodeficiency 15A ISO RGD:733968 D RGD:7240710 20190315 OMIM 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:0111960 immunodeficiency 15A ISO RGD:733968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15a PMID:24033266|PMID:25741868|PMID:28492532|PMID:30337470 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10283 prostate cancer ISO RGD:733968 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:prostate gland PMID:26435478|REF_RGD_ID:13504773 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10487 Hirschsprung's disease ISO RGD:733968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10603 glucose intolerance ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31095431 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10652 Alzheimer's disease treatment ISO RGD:621375 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:24380241|REF_RGD_ID:10045941 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10763 hypertension ISO RGD:733968 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27659729|PMID:32147540 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:10763 hypertension treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19246475|REF_RGD_ID:7495780 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:1612 breast cancer susceptibility ISO RGD:733968 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:22562547|REF_RGD_ID:6484541 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:178 vascular disease ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:219 colon cancer ISO RGD:621375 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:large intestine mucosa PMID:20143392|REF_RGD_ID:7495781 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:224 transient cerebral ischemia treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:24261295|REF_RGD_ID:7495766 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:27196761|REF_RGD_ID:13504772 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2723 dermatitis ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:20200541|REF_RGD_ID:7495759 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:2723 dermatitis ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:12075355|REF_RGD_ID:7495756 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3498 pancreatic ductal adenocarcinoma susceptibility ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22264792|REF_RGD_ID:13838741 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:16286924|REF_RGD_ID:10045955 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:3571 liver cancer ISO RGD:733968 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27367027|REF_RGD_ID:153305911 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:4989 pancreatitis treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:17525799|REF_RGD_ID:10045954 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:552 pneumonia ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31095431 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:552 pneumonia treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:20080200|REF_RGD_ID:7495767 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:627 severe combined immunodeficiency ISO RGD:733968 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:630 genetic disease ISO RGD:733968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:767 muscular atrophy treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:18827022|REF_RGD_ID:7495773 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:8893 psoriasis ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:16397523|REF_RGD_ID:7495754 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:24489934|REF_RGD_ID:10045942 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002221 Hyperplasia ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:15939736|REF_RGD_ID:7495757 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19652024|REF_RGD_ID:7495778 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:19652024|REF_RGD_ID:7495778 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002457 Experimental Arthritis treatment ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:21087862|REF_RGD_ID:7495772 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28167773 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22056382|REF_RGD_ID:13838742 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004078 Pancreatic Intraepithelial Neoplasia severity ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:22406536|REF_RGD_ID:13838740 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004118 Experimental Melanoma ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:19276165|REF_RGD_ID:7495758 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004283 Transplant Rejection ISO RGD:621375 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:19249479|REF_RGD_ID:7495769 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9004283 Transplant Rejection treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:20500684|REF_RGD_ID:4892204 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9005372 Inflammation ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621375 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver PMID:20362663|REF_RGD_ID:7495777 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19546526|REF_RGD_ID:7495779 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance ISO RGD:733968 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29036520 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance ISO RGD:733969 D RGD:9068941 20200609 RGD PMID:11533494|REF_RGD_ID:10045961 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9007692 Insulin Resistance treatment ISO RGD:621375 D RGD:9068941 20200609 RGD PMID:19073766|REF_RGD_ID:7495768 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733968 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:10195897|PMID:17576681|PMID:24033266|PMID:24369075|PMID:24679846|PMID:25139357|PMID:25216719|PMID:25741868|PMID:26122175|PMID:28492532|PMID:30335863|PMID:32117824|PMID:9536098 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:733968 D RGD:9068941 20200609 RGD PMID:15685173|REF_RGD_ID:10045952 9002298 Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta gene DOID:9970 obesity ISO RGD:733969 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:15685173|REF_RGD_ID:10045952 9002324 Il27ra interleukin 27 receptor subunit alpha gene DOID:10316 pneumoconiosis ISO RGD:1312815 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 9002324 Il27ra interleukin 27 receptor subunit alpha gene DOID:2841 asthma ISO RGD:1312816 D RGD:9068941 20200609 RGD PMID:16081811|REF_RGD_ID:5128496 9002324 Il27ra interleukin 27 receptor subunit alpha gene DOID:2957 pulmonary tuberculosis ISO RGD:1312816 D RGD:9068941 20200609 RGD PMID:15749890|REF_RGD_ID:5128486 9002324 Il27ra interleukin 27 receptor subunit alpha gene DOID:418 systemic scleroderma ISO RGD:1312815 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:20705635|REF_RGD_ID:5128477 9002324 Il27ra interleukin 27 receptor subunit alpha gene DOID:4483 rhinitis ISO RGD:1312816 D RGD:9068941 20200609 RGD PMID:19354069|REF_RGD_ID:5128480 9002324 Il27ra interleukin 27 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:1312815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:1059 intellectual disability ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:12712 nephronophthisis ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:630 genetic disease ISO RGD:1323692 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9001793 Generalized Epilepsy ISO RGD:1323692 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9002232 Attenuated Adenomatous Polyposis Coli ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28166811|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:31548401|PMID:33193653|PMID:9536098 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28166811|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:30886832|PMID:31263571|PMID:31548401|PMID:32963463|PMID:33193653|PMID:9536098 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1323692 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:16199547|PMID:17576681|PMID:19617566|PMID:20551049|PMID:22461326|PMID:24038392|PMID:24357849|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:26845104|PMID:27153395|PMID:28166811|PMID:28492532|PMID:28944238|PMID:29095867|PMID:29546405|PMID:29596542|PMID:29749045|PMID:30886832|PMID:31263571|PMID:31548401|PMID:32963463|PMID:33193653|PMID:34426522|PMID:36315513|PMID:9536098 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9008939 Breast Neoplasms ISO RGD:1323692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:25741868|PMID:28492532|PMID:29546405 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9256 colorectal cancer ISO RGD:1323692 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:19617566|PMID:24038392|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:27153395|PMID:28492532|PMID:29095867|PMID:29749045 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9256 colorectal cancer ISO RGD:1323692 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:19617566|PMID:24038392|PMID:25637381|PMID:25741868|PMID:26021770|PMID:26467025|PMID:27153395|PMID:28492532|PMID:29095867|PMID:29749045|PMID:34426522|PMID:36315513 9002349 Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1323692 D RGD:7240710 20200226 OMIM 9002363 Styx serine/threonine/tyrosine interacting protein gene DOID:630 genetic disease ISO RGD:1312345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002377 Ppp1r8 protein phosphatase 1 regulatory subunit 8 gene DOID:630 genetic disease ISO RGD:1314810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002394 Cops8 COP9 signalosome subunit 8 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1322849 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 9002394 Cops8 COP9 signalosome subunit 8 gene DOID:1059 intellectual disability ISO RGD:1322849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9002394 Cops8 COP9 signalosome subunit 8 gene DOID:630 genetic disease ISO RGD:1322849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002394 Cops8 COP9 signalosome subunit 8 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1322849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9002411 Gpr149 G protein-coupled receptor 149 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1346454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9002411 Gpr149 G protein-coupled receptor 149 gene DOID:630 genetic disease ISO RGD:1346454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002438 Gdf2 growth differentiation factor 2 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1353215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26801773 9002438 Gdf2 growth differentiation factor 2 gene DOID:5419 schizophrenia ISO RGD:1353215 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9002438 Gdf2 growth differentiation factor 2 gene DOID:630 genetic disease ISO RGD:1353215 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30578383|PMID:30578397|PMID:31727138|PMID:32618121|PMID:33066286 9002438 Gdf2 growth differentiation factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:1353215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26801773 9002438 Gdf2 growth differentiation factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1353215 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23936038|PMID:28284560 9002438 Gdf2 growth differentiation factor 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353215 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:26801773|PMID:28492532|PMID:31661308|PMID:31727138 9002438 Gdf2 growth differentiation factor 2 gene DOID:9001906 Hereditary Hemorrhagic Telangiectasia, Type 5 ISO RGD:1353215 D RGD:7240710 20180130 OMIM 9002438 Gdf2 growth differentiation factor 2 gene DOID:9001906 Hereditary Hemorrhagic Telangiectasia, Type 5 ISO RGD:1353215 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5 PMID:23972370|PMID:25741868|PMID:26801773|PMID:27081547|PMID:28492532|PMID:29650961|PMID:30578397|PMID:31661308|PMID:31727138|PMID:32573726|PMID:32992168|PMID:34611981|PMID:35346192 9002438 Gdf2 growth differentiation factor 2 gene DOID:9002589 Bone Fractures ISO RGD:1353215 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27394662 9002438 Gdf2 growth differentiation factor 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1353215 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868|PMID:26801773|PMID:28492532|PMID:31661308|PMID:31727138 9002445 Tshz1 teashirt zinc finger homeobox 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1323269 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 9002445 Tshz1 teashirt zinc finger homeobox 1 gene DOID:1059 intellectual disability ISO RGD:1323269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 9002445 Tshz1 teashirt zinc finger homeobox 1 gene DOID:630 genetic disease ISO RGD:1323269 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9002445 Tshz1 teashirt zinc finger homeobox 1 gene DOID:6420 pulmonary valve stenosis ISO RGD:1323269 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 9002445 Tshz1 teashirt zinc finger homeobox 1 gene DOID:8445 intestinal volvulus ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 9002445 Tshz1 teashirt zinc finger homeobox 1 gene DOID:9004309 Congenital Aural Atresia ISO RGD:1323269 D RGD:7240710 20180130 OMIM 9002445 Tshz1 teashirt zinc finger homeobox 1 gene DOID:9004309 Congenital Aural Atresia ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aural atresia, congenital | ClinVar Annotator: match by term: TSHZ1-related condition PMID:22152683|PMID:24487590|PMID:25741868 9002445 Tshz1 teashirt zinc finger homeobox 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9002445 Tshz1 teashirt zinc finger homeobox 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1323269 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 9002445 Tshz1 teashirt zinc finger homeobox 1 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1323269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 9002456 Col8a1 collagen type VIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1319668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002456 Col8a1 collagen type VIII alpha 1 chain gene DOID:9005835 Congenital Abnormalities ISO RGD:1319668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19035365 9002456 Col8a1 collagen type VIII alpha 1 chain gene DOID:9775 diastolic heart failure ISO RGD:1319668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 9002468 Vegfb vascular endothelial growth factor B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1343221 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9002468 Vegfb vascular endothelial growth factor B gene DOID:1059 intellectual disability ISO RGD:1343221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9002468 Vegfb vascular endothelial growth factor B gene DOID:1727 retinal vein occlusion ISO RGD:619799 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 9002468 Vegfb vascular endothelial growth factor B gene DOID:1793 pancreatic cancer ISO RGD:1343221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24604347 9002468 Vegfb vascular endothelial growth factor B gene DOID:3070 high grade glioma ISO RGD:1343221 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9002468 Vegfb vascular endothelial growth factor B gene DOID:5844 myocardial infarction ISO RGD:1343221 D RGD:9068941 20200609 RGD PMID:17975666|REF_RGD_ID:2314324 9002468 Vegfb vascular endothelial growth factor B gene DOID:630 genetic disease ISO RGD:1343221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002468 Vegfb vascular endothelial growth factor B gene DOID:6432 pulmonary hypertension ISO RGD:1343221 D RGD:9068941 20200609 RGD PMID:12547729|REF_RGD_ID:1625708 9002468 Vegfb vascular endothelial growth factor B gene DOID:9000918 Disease Progression ISO RGD:1343221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280 9002468 Vegfb vascular endothelial growth factor B gene DOID:9000998 Brain Injuries ISO RGD:619799 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:12230324|REF_RGD_ID:1580574 9002468 Vegfb vascular endothelial growth factor B gene DOID:9001044 Choroidal Neovascularization ISO RGD:1622354 D RGD:9068941 20200609 RGD PMID:19369214|REF_RGD_ID:2314323 9002468 Vegfb vascular endothelial growth factor B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1622354 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 9002468 Vegfb vascular endothelial growth factor B gene DOID:9007748 Retinal Neovascularization ISO RGD:1622354 D RGD:9068941 20200609 RGD PMID:19369214|REF_RGD_ID:2314323 9002468 Vegfb vascular endothelial growth factor B gene DOID:9008939 Breast Neoplasms ISO RGD:1343221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23146280 9002482 Krbox1 KRAB box domain containing 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:5130419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 9002482 Krbox1 KRAB box domain containing 1 gene DOID:630 genetic disease ISO RGD:5130419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002495 Tmt1a thiol methyltransferase 1A gene DOID:0080600 COVID-19 ISO RGD:1601879 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9002495 Tmt1a thiol methyltransferase 1A gene DOID:289 endometriosis ISO RGD:1601879 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 9002502 Fbrs fibrosin gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1342852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 9002502 Fbrs fibrosin gene DOID:630 genetic disease ISO RGD:1342852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002502 Fbrs fibrosin gene DOID:9007661 Dwarfism ISO RGD:1342852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 9002531 Tbc1d25 TBC1 domain family member 25 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9002531 Tbc1d25 TBC1 domain family member 25 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 9002531 Tbc1d25 TBC1 domain family member 25 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1351229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 9002531 Tbc1d25 TBC1 domain family member 25 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 9002531 Tbc1d25 TBC1 domain family member 25 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1351229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 9002531 Tbc1d25 TBC1 domain family member 25 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1351229 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 9002531 Tbc1d25 TBC1 domain family member 25 gene DOID:12849 autistic disorder ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9002531 Tbc1d25 TBC1 domain family member 25 gene DOID:14228 oligospermia ISO RGD:1351229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligospermia 9002531 Tbc1d25 TBC1 domain family member 25 gene DOID:630 genetic disease ISO RGD:1351229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002569 LOC102020267 chromosome unknown open reading frame, human C5orf22 gene DOID:630 genetic disease ISO RGD:1605070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002569 LOC102020267 chromosome unknown open reading frame, human C5orf22 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9002582 LOC102020917 olfactory receptor 5C1 gene DOID:630 genetic disease ISO RGD:1604145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002586 Slc6a11 solute carrier family 6 member 11 gene DOID:11832 visual epilepsy ISO RGD:628737 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:17408599|REF_RGD_ID:1643196 9002586 Slc6a11 solute carrier family 6 member 11 gene DOID:1909 melanoma ISO RGD:732372 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499247 9002586 Slc6a11 solute carrier family 6 member 11 gene DOID:630 genetic disease ISO RGD:732372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002586 Slc6a11 solute carrier family 6 member 11 gene DOID:9004009 Reperfusion Injury ISO RGD:628737 D RGD:9068941 20200609 RGD PMID:13678673|REF_RGD_ID:1299345 9002586 Slc6a11 solute carrier family 6 member 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9002586 Slc6a11 solute carrier family 6 member 11 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:732372 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 9002586 Slc6a11 solute carrier family 6 member 11 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:732372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 9002603 Shisal2b shisa like 2B gene DOID:630 genetic disease ISO RGD:2293813 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002603 Shisal2b shisa like 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2293813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9002617 Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:0081292 traumatic brain injury ISO RGD:69230 D RGD:9068941 20200609 RGD PMID:20713027|REF_RGD_ID:13830881 9002617 Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:10652 Alzheimer's disease ISO RGD:735592 D RGD:9068941 20200609 RGD PMID:21223993|REF_RGD_ID:13830879 9002617 Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:1350432 D RGD:9068941 20200609 RGD DNA:SNP: :rs1868402 (human) PMID:23727081|REF_RGD_ID:13830878 9002617 Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:1350432 D RGD:9068941 20200609 RGD PMID:15012912|REF_RGD_ID:1580709 9002617 Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:735592 D RGD:9068941 20220825 MouseDO 9002617 Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:5419 schizophrenia ISO RGD:735592 D RGD:9068941 20220825 MouseDO OMIM:181500 9002617 Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344631 9002617 Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:9068941 20200806 RGD PMID:16688406|REF_RGD_ID:1580706 9002617 Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1350432 D RGD:9068941 20200806 RGD DNA:insertion/deletion:promoter: PMID:16209992|REF_RGD_ID:1580708 9002617 Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:1350432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9002617 Ppp3r1 protein phosphatase 3 regulatory subunit B, alpha gene DOID:9007102 Myocardial Ischemia ISO RGD:69230 D RGD:9068941 20200609 RGD PMID:16214533|REF_RGD_ID:1580707 9002631 Znf865 zinc finger protein 865 gene DOID:630 genetic disease ISO RGD:4109409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002638 Pnliprp1 pancreatic lipase related protein 1 gene DOID:10283 prostate cancer ISO RGD:732485 D RGD:9068941 20200609 RGD PMID:11384102|REF_RGD_ID:2302990 9002638 Pnliprp1 pancreatic lipase related protein 1 gene DOID:630 genetic disease ISO RGD:732485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002653 Twsg1 twisted gastrulation BMP signaling modulator 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1322557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 9002653 Twsg1 twisted gastrulation BMP signaling modulator 1 gene DOID:1059 intellectual disability ISO RGD:1322557 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9002653 Twsg1 twisted gastrulation BMP signaling modulator 1 gene DOID:4621 holoprosencephaly ISO RGD:1322557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15013800 9002653 Twsg1 twisted gastrulation BMP signaling modulator 1 gene DOID:543 dystonia ISO RGD:1322557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 9002653 Twsg1 twisted gastrulation BMP signaling modulator 1 gene DOID:630 genetic disease ISO RGD:1322557 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002653 Twsg1 twisted gastrulation BMP signaling modulator 1 gene DOID:9000066 Jaw Abnormalities ISO RGD:1322557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15013800 9002678 Qser1 glutamine and serine rich 1 gene DOID:1059 intellectual disability ISO RGD:1605632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9002678 Qser1 glutamine and serine rich 1 gene DOID:630 genetic disease ISO RGD:1605632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002705 Ccsap centriole, cilia and spindle associated protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9002705 Ccsap centriole, cilia and spindle associated protein gene DOID:630 genetic disease ISO RGD:1602440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002705 Ccsap centriole, cilia and spindle associated protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9002713 LOC102026963 olfactory receptor 6P1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9002713 LOC102026963 olfactory receptor 6P1 gene DOID:630 genetic disease ISO RGD:1347277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002713 LOC102026963 olfactory receptor 6P1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9002739 Atxn7l2 ataxin 7 like 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1350736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 9002739 Atxn7l2 ataxin 7 like 2 gene DOID:12849 autistic disorder ISO RGD:1350736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9002739 Atxn7l2 ataxin 7 like 2 gene DOID:630 genetic disease ISO RGD:1350736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002759 Abce1 ATP binding cassette subfamily E member 1 gene DOID:10283 prostate cancer ISO RGD:1313249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9002759 Abce1 ATP binding cassette subfamily E member 1 gene DOID:3459 breast carcinoma ISO RGD:1313249 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:23556449|REF_RGD_ID:11041882 9002759 Abce1 ATP binding cassette subfamily E member 1 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313249 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:18788636|REF_RGD_ID:11046260 9002759 Abce1 ATP binding cassette subfamily E member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1313249 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:19657357|REF_RGD_ID:11041871 9002759 Abce1 ATP binding cassette subfamily E member 1 gene DOID:630 genetic disease ISO RGD:1313249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002759 Abce1 ATP binding cassette subfamily E member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313249 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:21932399|REF_RGD_ID:11041873 9002759 Abce1 ATP binding cassette subfamily E member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313249 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 9002759 Abce1 ATP binding cassette subfamily E member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313249 D RGD:9068941 20200609 RGD mRNA:increased expression:colorectal mucosa (human) PMID:22294766|REF_RGD_ID:11041887 9002789 Fgf17 fibroblast growth factor 17 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:733951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9002789 Fgf17 fibroblast growth factor 17 gene DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia ISO RGD:733951 D RGD:7240710 20180130 OMIM 9002789 Fgf17 fibroblast growth factor 17 gene DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia ISO RGD:733951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 without anosmia PMID:21700882|PMID:23643382|PMID:6881209 9002789 Fgf17 fibroblast growth factor 17 gene DOID:630 genetic disease ISO RGD:733951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002789 Fgf17 fibroblast growth factor 17 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:733951 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 9002802 Slc35a4 solute carrier family 35 member A4 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1348037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 9002802 Slc35a4 solute carrier family 35 member A4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348037 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9002802 Slc35a4 solute carrier family 35 member A4 gene DOID:630 genetic disease ISO RGD:1348037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002802 Slc35a4 solute carrier family 35 member A4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9002802 Slc35a4 solute carrier family 35 member A4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348037 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9002807 Tmem74 transmembrane protein 74 gene DOID:630 genetic disease ISO RGD:1605858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002812 Fancc FA complementation group C gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:735813 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 9002812 Fancc FA complementation group C gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:735813 D RGD:9068941 20200609 RGD DNA:haplotype::rs4647416(human) PMID:21670957|REF_RGD_ID:11045795 9002812 Fancc FA complementation group C gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:735813 D RGD:7240710 20180130 OMIM 9002812 Fancc FA complementation group C gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:735813 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10431244|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19278965|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:34958143|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:735813 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15695377|PMID:17924555|PMID:22995991|PMID:23028338|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26740942|PMID:27153395|PMID:28125075|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28775315|PMID:29360161|PMID:29643063|PMID:29719599|PMID:30031030|PMID:30306255|PMID:30541756|PMID:31133068|PMID:31784482|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:33471991|PMID:34117267|PMID:34426522|PMID:35264596|PMID:37349538|PMID:8128956|PMID:8348157|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement 9002812 Fancc FA complementation group C gene DOID:1059 intellectual disability ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9002812 Fancc FA complementation group C gene DOID:12450 pancytopenia ISO RGD:10566 D RGD:9068941 20200609 RGD Low dose of mitomycin C 0.3mg/kg PMID:9531583|REF_RGD_ID:11045793 9002812 Fancc FA complementation group C gene DOID:12450 pancytopenia ISO RGD:735813 D RGD:9068941 20200609 RGD PMID:10627482|REF_RGD_ID:11045794 9002812 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:35264596|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:35264596|PMID:36315513|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:13636 Fanconi anemia ISO RGD:735813 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:13636 Fanconi anemia onset ISO RGD:735813 D RGD:9068941 20200609 RGD DNA:deletion: :322delG (human) PMID:11110674|REF_RGD_ID:11344914 9002812 Fancc FA complementation group C gene DOID:14115 toxic shock syndrome ISO RGD:10566 D RGD:9068941 20200609 RGD PMID:17404312|REF_RGD_ID:11045879 9002812 Fancc FA complementation group C gene DOID:1520 colon carcinoma ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003 9002812 Fancc FA complementation group C gene DOID:1612 breast cancer ISO RGD:735813 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:10666230|PMID:11427142|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:17576681|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26778106|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28873162|PMID:29360161|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:1612 breast cancer ISO RGD:735813 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:10666230|PMID:11427142|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26778106|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28873162|PMID:29360161|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:31558676|PMID:31721781|PMID:31874108|PMID:32235514|PMID:32546565|PMID:32570879|PMID:32659497|PMID:32885271|PMID:33471991|PMID:34308366|PMID:34326862|PMID:35264596|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8734810|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:1793 pancreatic cancer ISO RGD:735813 D RGD:9068941 20200609 RGD PMID:16243825|REF_RGD_ID:2317238 9002812 Fancc FA complementation group C gene DOID:1793 pancreatic cancer ISO RGD:735813 D RGD:9068941 20200609 RGD DNA:nonsense mutation (human) PMID:15695377|REF_RGD_ID:2317239 9002812 Fancc FA complementation group C gene DOID:2018 hyperinsulinism ISO RGD:735813 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22482891 9002812 Fancc FA complementation group C gene DOID:2394 ovarian cancer ISO RGD:735813 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:23028338|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32885271|PMID:33471991 9002812 Fancc FA complementation group C gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:735813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:17703323|PMID:17924555|PMID:22382802|PMID:28492532 9002812 Fancc FA complementation group C gene DOID:5426 primary ovarian insufficiency ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9002812 Fancc FA complementation group C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 9002812 Fancc FA complementation group C gene DOID:630 genetic disease ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9002812 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10666230|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30676620|PMID:30967997|PMID:31589614|PMID:31784482|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34761457|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735813 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183 9002812 Fancc FA complementation group C gene DOID:9007456 Female Infertility ISO RGD:10566 D RGD:9068941 20200609 RGD PMID:8704201|REF_RGD_ID:1300317 9002812 Fancc FA complementation group C gene DOID:9007692 Insulin Resistance ISO RGD:10566 D RGD:9068941 20200609 RGD PMID:22482891|REF_RGD_ID:11046266 9002812 Fancc FA complementation group C gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:735813 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S26F (human) PMID:12670332|REF_RGD_ID:11046259 9002812 Fancc FA complementation group C gene DOID:9970 obesity ISO RGD:10566 D RGD:9068941 20200609 RGD PMID:22482891|REF_RGD_ID:11046266 9002837 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:0060356 Vici syndrome ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 9002837 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:10283 prostate cancer ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9002837 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:1059 intellectual disability ISO RGD:1350599 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9002837 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:12849 autistic disorder ISO RGD:1350599 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:25741868 9002837 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:5419 schizophrenia ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9002837 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:630 genetic disease ISO RGD:1350599 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25621899|PMID:26506440|PMID:28492532 9002837 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1350599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 9002837 Katnal2 katanin catalytic subunit A1 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 9002863 Ptprj protein tyrosine phosphatase receptor type J gene DOID:1059 intellectual disability ISO RGD:736433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9002863 Ptprj protein tyrosine phosphatase receptor type J gene DOID:10763 hypertension ISO RGD:3454 D RGD:9068941 20200609 RGD PMID:15710778|REF_RGD_ID:1357414 9002863 Ptprj protein tyrosine phosphatase receptor type J gene DOID:1520 colon carcinoma ISO RGD:736433 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:12089527|PMID:25741868|PMID:33116287 9002863 Ptprj protein tyrosine phosphatase receptor type J gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:736433 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.R326Q, p.Q276P (human) PMID:19672627|REF_RGD_ID:152176665 9002863 Ptprj protein tyrosine phosphatase receptor type J gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:736433 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.R326Q, p.Q276P (human) PMID:19672627|REF_RGD_ID:152176665 9002863 Ptprj protein tyrosine phosphatase receptor type J gene DOID:630 genetic disease ISO RGD:736433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002863 Ptprj protein tyrosine phosphatase receptor type J gene DOID:9008443 Colorectal Neoplasms ISO RGD:736433 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 9002863 Ptprj protein tyrosine phosphatase receptor type J gene DOID:9008451 Thrombocytopenia 10 ISO RGD:736433 D RGD:7240710 20230906 OMIM 9002863 Ptprj protein tyrosine phosphatase receptor type J gene DOID:9008451 Thrombocytopenia 10 ISO RGD:736433 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 10 PMID:30591527 9002863 Ptprj protein tyrosine phosphatase receptor type J gene DOID:9256 colorectal cancer ISO RGD:736433 D RGD:7240710 20200226 OMIM 9002863 Ptprj protein tyrosine phosphatase receptor type J gene DOID:9256 colorectal cancer ISO RGD:736433 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:12089527|PMID:25741868|PMID:33116287 9002863 Ptprj protein tyrosine phosphatase receptor type J gene DOID:9256 colorectal cancer susceptibility ISO RGD:736433 D RGD:9068941 20220512 RGD DNA:missense mutations:cds:p.R326Q, p.Q276P (human) PMID:19672627|REF_RGD_ID:152176665 9002892 Myo9a myosin IXA gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:33412162 9002892 Myo9a myosin IXA gene DOID:14159 obstructive hydrocephalus ISO RGD:1551281 D RGD:9068941 20220825 MouseDO 9002892 Myo9a myosin IXA gene DOID:2717 Bloom syndrome ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9002892 Myo9a myosin IXA gene DOID:3320 Tay-Sachs disease ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 9002892 Myo9a myosin IXA gene DOID:3635 congenital myasthenic syndrome ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes PMID:25741868 9002892 Myo9a myosin IXA gene DOID:630 genetic disease ISO RGD:732261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9002892 Myo9a myosin IXA gene DOID:9006836 Contracture ISO RGD:732261 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Contractures PMID:25741868|PMID:26752647 9002892 Myo9a myosin IXA gene DOID:9009246 Congenital Myasthenic Syndrome 24 ISO RGD:732261 D RGD:7240710 20190315 OMIM 9002892 Myo9a myosin IXA gene DOID:9009246 Congenital Myasthenic Syndrome 24 ISO RGD:732261 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYO9A-related condition | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 24, presynaptic PMID:25741868|PMID:26752647|PMID:27259756|PMID:28492532|PMID:30237576|PMID:33412162 9002892 Myo9a myosin IXA gene DOID:9256 colorectal cancer ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9002892 Myo9a myosin IXA gene DOID:9563 bronchiectasis ISO RGD:732261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis 9002953 Chkb choline kinase beta gene DOID:0060041 autism spectrum disorder ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 9002953 Chkb choline kinase beta gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1604071 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 9002953 Chkb choline kinase beta gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9002953 Chkb choline kinase beta gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 9002953 Chkb choline kinase beta gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1604071 D RGD:7240710 20180130 OMIM 9002953 Chkb choline kinase beta gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1604071 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:16199547|PMID:17576681|PMID:21665002|PMID:23692895|PMID:23945283|PMID:24997086|PMID:25326635|PMID:25326637|PMID:25740612|PMID:25741868|PMID:26467025|PMID:26782016|PMID:28492532|PMID:31926838|PMID:33712684|PMID:7767093|PMID:9427222|PMID:9536098 9002953 Chkb choline kinase beta gene DOID:10581 metachromatic leukodystrophy ISO RGD:1604071 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 9002953 Chkb choline kinase beta gene DOID:1059 intellectual disability ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9002953 Chkb choline kinase beta gene DOID:1826 epilepsy ISO RGD:1604071 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 9002953 Chkb choline kinase beta gene DOID:630 genetic disease ISO RGD:1604071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9002953 Chkb choline kinase beta gene DOID:8619 recurrent hypersomnia susceptibility ISO RGD:1604071 D RGD:9068941 20200609 RGD DNA:SNP: :rs5770917 (human) PMID:19404393|REF_RGD_ID:6483442 9002953 Chkb choline kinase beta gene DOID:8986 narcolepsy ISO RGD:1604071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18820697 9002953 Chkb choline kinase beta gene DOID:8986 narcolepsy susceptibility ISO RGD:1604071 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:3' utr:c.*257A>G (rs5770917) (human) PMID:18820697|REF_RGD_ID:6483443 9002953 Chkb choline kinase beta gene DOID:9884 muscular dystrophy ISO RGD:1604071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868 9002970 Pde8a phosphodiesterase 8A gene DOID:2717 Bloom syndrome ISO RGD:1601777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9002970 Pde8a phosphodiesterase 8A gene DOID:630 genetic disease ISO RGD:1601777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9002970 Pde8a phosphodiesterase 8A gene DOID:9256 colorectal cancer ISO RGD:1601777 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9003015 Apbb2 amyloid beta precursor protein binding family B member 2 gene DOID:10652 Alzheimer's disease onset ISO RGD:1342475 D RGD:9068941 20200609 RGD DNA:SNPs: :rs13133980,rs17443013(human) PMID:15714520|REF_RGD_ID:9684954 9003015 Apbb2 amyloid beta precursor protein binding family B member 2 gene DOID:1561 cognitive disorder severity ISO RGD:1342475 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: : rs13133980,rs17443013 (human) PMID:23384821|REF_RGD_ID:9684953 9003015 Apbb2 amyloid beta precursor protein binding family B member 2 gene DOID:630 genetic disease ISO RGD:1342475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003015 Apbb2 amyloid beta precursor protein binding family B member 2 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1342475 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 9003015 Apbb2 amyloid beta precursor protein binding family B member 2 gene DOID:9004657 Weight Gain ISO RGD:1342475 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 9003095 Mybl1 MYB proto-oncogene like 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1315840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 9003095 Mybl1 MYB proto-oncogene like 1 gene DOID:0080600 COVID-19 ISO RGD:1315840 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9003095 Mybl1 MYB proto-oncogene like 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1315840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9003095 Mybl1 MYB proto-oncogene like 1 gene DOID:3070 high grade glioma ISO RGD:1315840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583981 9003095 Mybl1 MYB proto-oncogene like 1 gene DOID:630 genetic disease ISO RGD:1315840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003117 Runx1t1 RUNX1 partner transcriptional co-repressor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:1350261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 9003117 Runx1t1 RUNX1 partner transcriptional co-repressor 1 gene DOID:630 genetic disease ISO RGD:1350261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003117 Runx1t1 RUNX1 partner transcriptional co-repressor 1 gene DOID:9007661 Dwarfism ISO RGD:1350261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 9003117 Runx1t1 RUNX1 partner transcriptional co-repressor 1 gene DOID:9008350 NATURAL KILLER CELL ENTEROPATHY ISO RGD:1350261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NK-cell enteropathy 9003117 Runx1t1 RUNX1 partner transcriptional co-repressor 1 gene DOID:9119 acute myeloid leukemia ISO RGD:1350261 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206229|PMID:27798625 9003132 Adam7 ADAM metallopeptidase domain 7 gene DOID:5223 infertility ISO RGD:62324 D RGD:9068941 20200609 RGD PMID:26246218|REF_RGD_ID:13831360 9003132 Adam7 ADAM metallopeptidase domain 7 gene DOID:630 genetic disease ISO RGD:736113 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003155 Cog6 component of oligomeric golgi complex 6 gene DOID:0070264 congenital disorder of glycosylation type IIl ISO RGD:1346233 D RGD:7240710 20180130 OMIM 9003155 Cog6 component of oligomeric golgi complex 6 gene DOID:0070264 congenital disorder of glycosylation type IIl ISO RGD:1346233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG6-CGD | ClinVar Annotator: match by term: COG6-related condition PMID:16199547|PMID:17576681|PMID:20605848|PMID:23430903|PMID:23606727|PMID:24033266|PMID:24667118|PMID:24667119|PMID:25558065|PMID:25741868|PMID:26260076|PMID:26937396|PMID:28492532|PMID:30426380|PMID:9536098 9003155 Cog6 component of oligomeric golgi complex 6 gene DOID:1059 intellectual disability ISO RGD:1346233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:23606727|PMID:25558065|PMID:25741868 9003155 Cog6 component of oligomeric golgi complex 6 gene DOID:11155 hypohidrosis ISO RGD:1346233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypohidrosis PMID:23606727|PMID:25558065|PMID:25741868 9003155 Cog6 component of oligomeric golgi complex 6 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1346233 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 9003155 Cog6 component of oligomeric golgi complex 6 gene DOID:630 genetic disease ISO RGD:1346233 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26260076|PMID:28492532 9003155 Cog6 component of oligomeric golgi complex 6 gene DOID:9001463 Shaheen Syndrome ISO RGD:1346233 D RGD:7240710 20180130 OMIM 9003155 Cog6 component of oligomeric golgi complex 6 gene DOID:9001463 Shaheen Syndrome ISO RGD:1346233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Shaheen syndrome PMID:16199547|PMID:17576681|PMID:23606727|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26260076|PMID:26937396|PMID:28492532|PMID:30426380|PMID:9536098 9003178 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 9003178 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1603684 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9003178 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:1059 intellectual disability ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9003178 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:12849 autistic disorder ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9003178 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9003178 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1603684 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9003178 Srgap2 SLIT-ROBO Rho GTPase activating protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603684 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9003205 Cnot11 CCR4-NOT transcription complex subunit 11 gene DOID:630 genetic disease ISO RGD:1348103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003289 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1603273 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 9003289 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9003289 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9003289 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:2340 craniosynostosis ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 9003289 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:630 genetic disease ISO RGD:1603273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003289 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9003289 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:9269 maple syrup urine disease ISO RGD:1603273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9003289 Eid2b EP300 interacting inhibitor of differentiation 2B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 9003294 Kctd5 potassium channel tetramerization domain containing 5 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9003294 Kctd5 potassium channel tetramerization domain containing 5 gene DOID:1826 epilepsy ISO RGD:1312748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9003294 Kctd5 potassium channel tetramerization domain containing 5 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312748 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9003294 Kctd5 potassium channel tetramerization domain containing 5 gene DOID:630 genetic disease ISO RGD:1312748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003304 Msra methionine sulfoxide reductase A gene DOID:12849 autistic disorder ISO RGD:737220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9003304 Msra methionine sulfoxide reductase A gene DOID:303 substance-related disorder ISO RGD:737220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9003304 Msra methionine sulfoxide reductase A gene DOID:5419 schizophrenia ISO RGD:737220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9003304 Msra methionine sulfoxide reductase A gene DOID:630 genetic disease ISO RGD:737220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003304 Msra methionine sulfoxide reductase A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9003323 Tp53inp2 tumor protein p53 inducible nuclear protein 2 gene DOID:2843 long QT syndrome ISO RGD:1352381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 9003323 Tp53inp2 tumor protein p53 inducible nuclear protein 2 gene DOID:630 genetic disease ISO RGD:1352381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003351 Armc1 armadillo repeat containing 1 gene DOID:630 genetic disease ISO RGD:1343337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003407 Rab31 RAB31, member RAS oncogene family gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:734458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 9003407 Rab31 RAB31, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:734458 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9003407 Rab31 RAB31, member RAS oncogene family gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:734458 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 9003407 Rab31 RAB31, member RAS oncogene family gene DOID:543 dystonia ISO RGD:734458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 9003407 Rab31 RAB31, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:734458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003407 Rab31 RAB31, member RAS oncogene family gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9003422 Pi4k2b phosphatidylinositol 4-kinase type 2 beta gene DOID:12849 autistic disorder ISO RGD:1602326 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 9003422 Pi4k2b phosphatidylinositol 4-kinase type 2 beta gene DOID:630 genetic disease ISO RGD:1602326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003451 Atp11b ATPase phospholipid transporting 11B (putative) gene DOID:0111546 Currarino syndrome ISO RGD:1348822 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 9003451 Atp11b ATPase phospholipid transporting 11B (putative) gene DOID:630 genetic disease ISO RGD:1348822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003508 Nrip3 nuclear receptor interacting protein 3 gene DOID:630 genetic disease ISO RGD:1312415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003520 Casp2 caspase 2 gene DOID:1059 intellectual disability ISO RGD:1604850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 9003520 Casp2 caspase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1604850 D RGD:9068941 20200609 RGD PMID:12633148|REF_RGD_ID:13782269 9003520 Casp2 caspase 2 gene DOID:1824 status epilepticus disease_progression ISO RGD:69274 D RGD:9068941 20200609 RGD PMID:17627033|REF_RGD_ID:4107076 9003520 Casp2 caspase 2 gene DOID:3328 temporal lobe epilepsy disease_progression ISO RGD:1604850 D RGD:9068941 20200609 RGD PMID:17627033|REF_RGD_ID:4107076 9003520 Casp2 caspase 2 gene DOID:4450 renal cell carcinoma ISO RGD:1604850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208132 9003520 Casp2 caspase 2 gene DOID:630 genetic disease ISO RGD:1604850 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:37880421 9003520 Casp2 caspase 2 gene DOID:9003849 Autosomal Recessive Intellectual Developmental Disorder 80 ISO RGD:1604850 D RGD:7240710 20231220 OMIM 9003520 Casp2 caspase 2 gene DOID:9003849 Autosomal Recessive Intellectual Developmental Disorder 80 ISO RGD:1604850 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly PMID:25741868|PMID:37880421 9003520 Casp2 caspase 2 gene DOID:9007096 Stroke ISO RGD:69274 D RGD:9068941 20200609 RGD PMID:12067235|REF_RGD_ID:4107080 9003547 Atg4d autophagy related 4D cysteine peptidase gene DOID:0050753 cerebellar ataxia ISO RGD:12101885 D RGD:9068941 20230629 OMIA Neurodegenerative vacuolar storage disease PMID:25875846|PMID:28583040|PMID:33016245|PMID:37341581 9003547 Atg4d autophagy related 4D cysteine peptidase gene DOID:630 genetic disease ISO RGD:1348604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003547 Atg4d autophagy related 4D cysteine peptidase gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1615670 D RGD:9068941 20230701 RGD PMID:34400126|REF_RGD_ID:329902072 9003567 Slc22a31 solute carrier family 22 member 31 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:5135309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 9003567 Slc22a31 solute carrier family 22 member 31 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:5135309 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 9003567 Slc22a31 solute carrier family 22 member 31 gene DOID:14780 KBG syndrome ISO RGD:5135309 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316|PMID:31690835 9003567 Slc22a31 solute carrier family 22 member 31 gene DOID:630 genetic disease ISO RGD:5135309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003567 Slc22a31 solute carrier family 22 member 31 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:5135309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 9003581 Gnpda1 glucosamine-6-phosphate deaminase 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9003581 Gnpda1 glucosamine-6-phosphate deaminase 1 gene DOID:0080600 COVID-19 ISO RGD:1349274 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9003581 Gnpda1 glucosamine-6-phosphate deaminase 1 gene DOID:630 genetic disease ISO RGD:1349274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003581 Gnpda1 glucosamine-6-phosphate deaminase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9003581 Gnpda1 glucosamine-6-phosphate deaminase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9003581 Gnpda1 glucosamine-6-phosphate deaminase 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9003596 Znf18 zinc finger protein 18 gene DOID:630 genetic disease ISO RGD:1312982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003609 Acsm4 acyl-CoA synthetase medium chain family member 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1642901 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9003609 Acsm4 acyl-CoA synthetase medium chain family member 4 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 9003609 Acsm4 acyl-CoA synthetase medium chain family member 4 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 9003609 Acsm4 acyl-CoA synthetase medium chain family member 4 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9003609 Acsm4 acyl-CoA synthetase medium chain family member 4 gene DOID:0111621 Temtamy syndrome ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9003609 Acsm4 acyl-CoA synthetase medium chain family member 4 gene DOID:630 genetic disease ISO RGD:1642901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003609 Acsm4 acyl-CoA synthetase medium chain family member 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1642901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:0050469 Costello syndrome ISO RGD:732023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17703371 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:732023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:17704260|PMID:18060073|PMID:18632602|PMID:19344873|PMID:19411838|PMID:20301365|PMID:22327936|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29402968|PMID:30763456|PMID:31487502 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:23444215|PMID:25157968|PMID:26619011 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22848035|PMID:23093928|PMID:23444215|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24458522|PMID:24637312|PMID:24803665|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:29402968|PMID:29493581|PMID:29643386|PMID:29907801|PMID:30087384|PMID:30141192|PMID:30763456|PMID:31487502|PMID:31942422|PMID:31972311|PMID:32005694|PMID:32978145|PMID:33482860 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:732023 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17981815|PMID:18042262|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19376813|PMID:22177953|PMID:22848035|PMID:23093928|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25326635|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28492532|PMID:30087384|PMID:31942422|PMID:34308104 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:0080690 RASopathy ISO RGD:732023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:30763456|PMID:31487502|PMID:31942422|PMID:9536098 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:0080690 RASopathy ISO RGD:732023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:9536098 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:0080690 RASopathy ISO RGD:732023 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:12370306|PMID:12612583|PMID:15917206|PMID:16199547|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:24803665|PMID:24982505|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25344691|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26343583|PMID:26350204|PMID:26619011|PMID:26795593|PMID:26918529|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:29753091|PMID:29907801|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:32005694|PMID:32978145|PMID:33502061|PMID:34006472|PMID:34308104|PMID:9536098 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:0110033 autosomal recessive Alport syndrome ISO RGD:732023 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17981815|PMID:18042262|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19376813|PMID:22177953|PMID:22848035|PMID:23093928|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28492532|PMID:30087384|PMID:31942422 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:0111462 cardiofaciocutaneous syndrome 3 ISO RGD:732023 D RGD:7240710 20180130 OMIM 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:0111462 cardiofaciocutaneous syndrome 3 ISO RGD:732023 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder PMID:12370306|PMID:12612583|PMID:15917206|PMID:16199547|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24458522|PMID:24637312|PMID:24803665|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26343583|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28495673|PMID:29402968|PMID:29493581|PMID:29753091|PMID:29907801|PMID:30087384|PMID:30141192|PMID:30763456|PMID:31487502|PMID:31942422|PMID:31972311|PMID:32005694|PMID:32978145|PMID:33128510|PMID:33482860|PMID:34006472|PMID:34308104 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:0111563 Sturge-Weber syndrome ISO RGD:732023 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:25741868 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:14566 disease of cellular proliferation ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:19915144|PMID:23614898|PMID:28492532 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:1612 breast cancer ISO RGD:732023 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:tumor PMID:10216485|REF_RGD_ID:2292627 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:1909 melanoma ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:17366577|PMID:17551924|PMID:17704260|PMID:18060073|PMID:18456719|PMID:18632602|PMID:19344873|PMID:19411838|PMID:19915144|PMID:20301365|PMID:21107320|PMID:21383288|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22622578|PMID:23444215|PMID:23569304|PMID:23614898|PMID:24033266|PMID:24448821|PMID:24803665|PMID:25049390|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28495673|PMID:29402968|PMID:29643386|PMID:30763456|PMID:31487502|PMID:32005694|PMID:32978145|PMID:7651428 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:2316 brain ischemia ISO RGD:1550208 D RGD:9068941 20200609 RGD PMID:10536014|REF_RGD_ID:1582169 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:2316 brain ischemia ISO RGD:732023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:2526 prostate adenocarcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:23444215|PMID:25157968|PMID:26619011 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:70495 D RGD:9068941 20200609 RGD metastasis; inhibition reduced invasiveness of prostate tumor cells PMID:12688676|REF_RGD_ID:2292631 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:2671 transitional cell carcinoma ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:2717 Bloom syndrome ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:285 hairy cell leukemia ISO RGD:732023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24241536 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:3070 high grade glioma ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:21057530|REF_RGD_ID:13702863 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:3490 Noonan syndrome ISO RGD:732023 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26343583|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:29402968|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:32978145|PMID:34308104 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:363 uterine cancer ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:3717 gastric adenocarcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:23444215|PMID:25157968|PMID:26619011 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:3907 lung squamous cell carcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:25741868 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:17704260|PMID:18060073|PMID:18632602|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22327936|PMID:23444215|PMID:23569304|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29643386|PMID:30763456|PMID:7651428 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732023 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:17704260|PMID:18060073|PMID:18632602|PMID:19344873|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22327936|PMID:23444215|PMID:23569304|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29402968|PMID:29643386|PMID:30763456|PMID:31487502|PMID:7651428 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:62181 D RGD:9068941 20211210 RGD PMID:21514245|REF_RGD_ID:150530476 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:3910 lung adenocarcinoma ISO RGD:732023 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:18632602|PMID:21383288|PMID:22197931|PMID:22588879|PMID:23444215|PMID:24448821|PMID:25157968|PMID:25741868|PMID:26619011|PMID:29643386 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:4001 ovarian carcinoma ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:12644821|REF_RGD_ID:2306053 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:732023 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:19513748|REF_RGD_ID:13838840 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:4074 pancreatic adenocarcinoma treatment ISO RGD:732023 D RGD:9068941 20200609 RGD human tissue in a mouse model PMID:28849200|REF_RGD_ID:13838804 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:4253 melorheostosis ISO RGD:732023 D RGD:7240710 20200701 OMIM 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:4253 melorheostosis ISO RGD:732023 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MELORHEOSTOSIS, ISOLATED | ClinVar Annotator: match by term: Melorheostosis PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17704260|PMID:17981815|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22177953|PMID:22327936|PMID:22848035|PMID:23093928|PMID:23444215|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28492532|PMID:29402968|PMID:29643386|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:7651428 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:732023 D RGD:9068941 20200609 RGD inhibition suppressed tumor growth and vascularization in an RCC xenograft model PMID:18172299|REF_RGD_ID:2292630 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:4450 renal cell carcinoma ISO RGD:732023 D RGD:9068941 20200609 RGD protein:increased expression:tumor:13/25 cases (52%) PMID:7664295|REF_RGD_ID:2292629 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:4906 small intestine adenocarcinoma ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:19014680|REF_RGD_ID:13464351 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:4989 pancreatitis severity ISO RGD:1550208 D RGD:9068941 20200609 RGD PMID:28090569|REF_RGD_ID:13838805 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:23444215|PMID:25157968|PMID:26619011 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:6000 congestive heart failure ISO RGD:732023 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:630 genetic disease ISO RGD:732023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17981815|PMID:18042262|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19376813|PMID:19915144|PMID:22177953|PMID:22197931|PMID:22848035|PMID:23093928|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28495673|PMID:29493581|PMID:30087384|PMID:31942422 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:83 cataract ISO RGD:70495 D RGD:9068941 20200609 RGD PMID:11222509|REF_RGD_ID:12801446 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:8923 skin melanoma ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23444215|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70495 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:liver PMID:15520221|REF_RGD_ID:2306052 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732023 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:9002682 Cardiovascular Abnormalities susceptibility ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:16439621|REF_RGD_ID:1580093 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:732023 D RGD:9068941 20200609 RGD PMID:18060073|REF_RGD_ID:2298686 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:9003191 Vascular Malformations ISO RGD:732023 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Vascular malformation PMID:25741868 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:732023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:17366577|PMID:17551924|PMID:19915144|PMID:21107320|PMID:22197931|PMID:22588879|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25157968|PMID:25741868|PMID:26343583|PMID:26619011|PMID:27862862|PMID:28049852|PMID:28492532|PMID:32005694|PMID:32978145 9003627 Map2k1 mitogen-activated protein kinase kinase 1 gene DOID:9256 colorectal cancer ISO RGD:732023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 9003642 Pirt phosphoinositide interacting regulator of transient receptor potential channels gene DOID:630 genetic disease ISO RGD:3539788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:0060041 autism spectrum disorder ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1314934 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:1059 intellectual disability ISO RGD:1314934 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14981718|PMID:15054837|PMID:18414213|PMID:19213023|PMID:25212744|PMID:25326635|PMID:25741868|PMID:28492532|PMID:9887341 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:11983 Prader-Willi syndrome ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:28631899 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:12849 autistic disorder ISO RGD:1314934 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:1826 epilepsy ISO RGD:1314934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome ISO RGD:1314934 D RGD:7240710 20180130 OMIM 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome ISO RGD:1314934 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Angelman syndrome | ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME PMID:10647895|PMID:11748306|PMID:12210318|PMID:12725589|PMID:14981718|PMID:15054837|PMID:15150776|PMID:15263005|PMID:16199547|PMID:16470747|PMID:17576681|PMID:17765640|PMID:17940072|PMID:18414213|PMID:18821858|PMID:19213023|PMID:20034088|PMID:21072004|PMID:22190369|PMID:22670133|PMID:2309781|PMID:23495136|PMID:23708187|PMID:24088041|PMID:24796722|PMID:24876791|PMID:25099823|PMID:25212744|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25884337|PMID:26068938|PMID:26219744|PMID:26255772|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26993267|PMID:27864847|PMID:28281572|PMID:28492532|PMID:29162042|PMID:29188609|PMID:29655203|PMID:29737008|PMID:29758562|PMID:29915382|PMID:31235931|PMID:32639967|PMID:34815418|PMID:34906502|PMID:8988171|PMID:8988172|PMID:9536098|PMID:9585605|PMID:9792887|PMID:9887341 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:1932 Angelman syndrome treatment ISO RGD:1314935 D RGD:9068941 20200609 RGD PMID:25470045|PMID:25866966|REF_RGD_ID:12859273|REF_RGD_ID:12859274 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:5419 schizophrenia ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:630 genetic disease ISO RGD:1314934 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14981718|PMID:15054837|PMID:15263005|PMID:16470747|PMID:17765640|PMID:17940072|PMID:18414213|PMID:19213023|PMID:22670133|PMID:2309781|PMID:24876791|PMID:25212744|PMID:25326635|PMID:25741868|PMID:25884337|PMID:26219744|PMID:26255772|PMID:26467025|PMID:28492532|PMID:29188609|PMID:34815418|PMID:8988171|PMID:9887341 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314934 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25212744|PMID:25741868|PMID:28492532|PMID:29188609 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:9008086 Developmental Disabilities ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:9008582 Developmental Disease ISO RGD:1314934 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9003652 Ube3a ubiquitin protein ligase E3A gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1314934 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15878204 9003686 Adgre3 adhesion G protein-coupled receptor E3 gene DOID:630 genetic disease ISO RGD:1606765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:0060041 autism spectrum disorder ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:0060067 Pearson syndrome ISO RGD:735407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pearson syndrome PMID:25741868|PMID:28492532 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:0080000 muscular disease ISO RGD:735407 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:14517516|PMID:19327992|PMID:21429517|PMID:23798014|PMID:25214167|PMID:25741868|PMID:26385305|PMID:28492532|PMID:30194637 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735407 D RGD:7240710 20180130 OMIM 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:735407 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: VLCAD deficiency | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10077518|PMID:10384387|PMID:10431122|PMID:10518280|PMID:10529389|PMID:10738914|PMID:10790204|PMID:11158518|PMID:11349232|PMID:11590124|PMID:11914034|PMID:12122118|PMID:12208138|PMID:12213615|PMID:12893739|PMID:14517516|PMID:14728674|PMID:15210884|PMID:16199547|PMID:16435213|PMID:16443431|PMID:16464760|PMID:16488171|PMID:16860141|PMID:16895136|PMID:16950999|PMID:16982043|PMID:17206456|PMID:17374501|PMID:17514507|PMID:17576681|PMID:17999356|PMID:18227065|PMID:18414213|PMID:18670371|PMID:19208414|PMID:19327992|PMID:20056241|PMID:2006090|PMID:20060901|PMID:20107901|PMID:20301763|PMID:20480395|PMID:20547398|PMID:20694756|PMID:21228398|PMID:21378393|PMID:21429517|PMID:21531094|PMID:21814341|PMID:21932095|PMID:22494076|PMID:22841441|PMID:22847164|PMID:23169530|PMID:23418865|PMID:23430948|PMID:23430950|PMID:23480858|PMID:23700290|PMID:23757202|PMID:23774949|PMID:23798014|PMID:23867825|PMID:23966064|PMID:24033266|PMID:24263034|PMID:24305961|PMID:24330285|PMID:24503138|PMID:24801231|PMID:24898617|PMID:25085675|PMID:25087612|PMID:25214167|PMID:25242572|PMID:25338548|PMID:25456746|PMID:25525159|PMID:25652019|PMID:25655073|PMID:25737446|PMID:25741868|PMID:25811481|PMID:25834949|PMID:25843429|PMID:26182500|PMID:26385305|PMID:26453363|PMID:26602010|PMID:26743058|PMID:26881790|PMID:26927351|PMID:26937394|PMID:27029698|PMID:27209629|PMID:27246109|PMID:27538624|PMID:27884173|PMID:27943070|PMID:27995075|PMID:28468868|PMID:28492532|PMID:28600779|PMID:28747690|PMID:28755339|PMID:28755359|PMID:28871440|PMID:29111448|PMID:29268767|PMID:2951924|PMID:29519241|PMID:29552494|PMID:29768383|PMID:29961767|PMID:30023301|PMID:30194637|PMID:30950014|PMID:31031081|PMID:31191348|PMID:31497477|PMID:31620161|PMID:31737040|PMID:31794763|PMID:31983732|PMID:32054689|PMID:32061778|PMID:32276429|PMID:32380161|PMID:32518924|PMID:32558070|PMID:32581362|PMID:32655480|PMID:32669490|PMID:32710939|PMID:32778825|PMID:32793418|PMID:32798077|PMID:32860008|PMID:32928639|PMID:32954689|PMID:33123633|PMID:33150772|PMID:33610471|PMID:33986768|PMID:33996489|PMID:34184355|PMID:34194748|PMID:34426522|PMID:34437764|PMID:34480364|PMID:34485012|PMID:34704412|PMID:35095998|PMID:35193651|PMID:35218577|PMID:35281659|PMID:35281663|PMID:35400565|PMID:35626289|PMID:36078043|PMID:36109795|PMID:4022672|PMID:609575|PMID:7479827|PMID:7668252|PMID:7769092|PMID:8554073|PMID:8739957|PMID:8845838|PMID:9461620|PMID:9536098|PMID:9546340|PMID:9599005|PMID:9709714|PMID:9839948|PMID:9973285 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:2014 D RGD:9068941 20200609 RGD PMID:22569299|PMID:23076603|REF_RGD_ID:10047121|REF_RGD_ID:10047124 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:735407 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:0111254 glutaric acidemia I ISO RGD:1318827 D RGD:9068941 20200609 RGD PMID:15840571|REF_RGD_ID:10047115 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:1059 intellectual disability ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:10652 Alzheimer's disease ISO RGD:735407 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:25260493|REF_RGD_ID:10047114 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:12177 common variable immunodeficiency ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:12930 dilated cardiomyopathy ISO RGD:735407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21932095|PMID:25087612|PMID:25741868|PMID:26385305|PMID:27209629|PMID:28468868|PMID:28492532|PMID:31031081|PMID:34437764|PMID:35281659 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:2729 dyskeratosis congenita ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:3012 Li-Fraumeni syndrome ISO RGD:735407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:423 myopathy ISO RGD:735407 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:14517516|PMID:19327992|PMID:20060901|PMID:21429517|PMID:23798014|PMID:25214167|PMID:25741868|PMID:26385305|PMID:28492532|PMID:30194637|PMID:9973285 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:735407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:630 genetic disease ISO RGD:735407 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077518|PMID:11590124|PMID:12208138|PMID:12213615|PMID:14517516|PMID:16860141|PMID:17374501|PMID:17576681|PMID:17999356|PMID:19208414|PMID:19327992|PMID:20107901|PMID:20301763|PMID:21429517|PMID:21932095|PMID:23169530|PMID:23418865|PMID:23430948|PMID:23480858|PMID:23798014|PMID:23867825|PMID:24033266|PMID:24503138|PMID:24801231|PMID:25085675|PMID:25214167|PMID:25741868|PMID:25843429|PMID:26385305|PMID:26743058|PMID:26937394|PMID:27209629|PMID:27246109|PMID:28492532|PMID:28747690|PMID:28871440|PMID:30194637|PMID:30504930|PMID:31031081|PMID:32054689|PMID:32061778|PMID:32518924|PMID:32778825|PMID:32928639|PMID:32954689|PMID:34194748|PMID:34564390|PMID:35281659|PMID:35400565|PMID:7479827|PMID:8739957|PMID:8845838|PMID:9536098|PMID:9973285 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:9000064 Cardiac Arrhythmias ISO RGD:735407 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:11590124|PMID:25741868|PMID:28492532|PMID:28755359|PMID:9973285 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:9000884 Rhabdomyolysis ISO RGD:735407 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:11158518|PMID:14517516|PMID:15210884|PMID:19327992|PMID:20060901|PMID:21429517|PMID:23798014|PMID:24801231|PMID:25214167|PMID:25741868|PMID:26385305|PMID:28492532|PMID:30194637|PMID:32581362|PMID:35400565|PMID:9546340|PMID:9973285 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:9001103 Heat Stress Disorders ISO RGD:2014 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:17374454|REF_RGD_ID:8553966 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:9002669 Hypoxia ISO RGD:735407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18258771 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:9003710 Autosomal Dominant Intellectual Developmental Disorder 62 ISO RGD:735407 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder 62 PMID:25741868|PMID:27618451 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10058 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:25260493|REF_RGD_ID:10047114 9003709 Acadvl acyl-CoA dehydrogenase very long chain gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:2014 D RGD:9068941 20200609 RGD PMID:25191539|REF_RGD_ID:10047118 9003741 Slamf6 SLAM family member 6 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 9003741 Slamf6 SLAM family member 6 gene DOID:1540 parathyroid carcinoma ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9003741 Slamf6 SLAM family member 6 gene DOID:630 genetic disease ISO RGD:1345807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003741 Slamf6 SLAM family member 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9003756 Ndufa4 NDUFA4 mitochondrial complex associated gene DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 ISO RGD:1352480 D RGD:7240710 20201111 OMIM 9003756 Ndufa4 NDUFA4 mitochondrial complex associated gene DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 ISO RGD:1352480 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 PMID:25741868 9003756 Ndufa4 NDUFA4 mitochondrial complex associated gene DOID:630 genetic disease ISO RGD:1352480 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9003770 Bco1 beta-carotene oxygenase 1 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1346552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 9003770 Bco1 beta-carotene oxygenase 1 gene DOID:630 genetic disease ISO RGD:1346552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003770 Bco1 beta-carotene oxygenase 1 gene DOID:9001798 Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant ISO RGD:1346552 D RGD:7240710 20180130 OMIM 9003770 Bco1 beta-carotene oxygenase 1 gene DOID:9001798 Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant ISO RGD:1346552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant PMID:17951468|PMID:5453458 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:0080338 familial erythrocytosis 3 ISO RGD:735297 D RGD:7240710 20180130 OMIM 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:0080338 familial erythrocytosis 3 ISO RGD:735297 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 3 PMID:16407130|PMID:17576681|PMID:17579185|PMID:17933562|PMID:19092153|PMID:20959442|PMID:21933857|PMID:24115288|PMID:24121508|PMID:24482100|PMID:25741868|PMID:28400504|PMID:28492532|PMID:29741264|PMID:29790589|PMID:9536098 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:10763 hypertension ISO RGD:631375 D RGD:9068941 20200609 RGD PMID:22686466|REF_RGD_ID:11252087 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:10780 primary polycythemia ISO RGD:735297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial erythrocytosis 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:18096761|REF_RGD_ID:11251770 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:735297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:26848160|REF_RGD_ID:11251766 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:3021 acute kidney failure ISO RGD:631375 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19349364|REF_RGD_ID:11252083 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:3602 toxic encephalopathy ISO RGD:735297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29471019 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:4450 renal cell carcinoma ISO RGD:735297 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20978146|REF_RGD_ID:13504705 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:5844 myocardial infarction ISO RGD:631375 D RGD:9068941 20200609 RGD PMID:16765982|REF_RGD_ID:11252084 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:630 genetic disease ISO RGD:735297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:24121508|REF_RGD_ID:11251767 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P317R (950C>G) (human) PMID:16407130|REF_RGD_ID:11251771 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.W334R (c.1000 T>C) (human) PMID:23859443|REF_RGD_ID:11073369 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation: :multiple PMID:21933857|REF_RGD_ID:11251769 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:8432 polycythemia ISO RGD:735297 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.N203K, p.K291L, p.K423E (human) PMID:21828119|REF_RGD_ID:11251768 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:631375 D RGD:9068941 20200609 RGD PMID:16761101|REF_RGD_ID:11252085 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:631375 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney PMID:19349364|REF_RGD_ID:11252083 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735297 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21933857|PMID:24115288|PMID:27774468|PMID:28492532|PMID:29790589 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735297 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:21933857|PMID:24115288|PMID:25741868|PMID:27774468|PMID:28492532|PMID:29790589 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735297 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:21933857|PMID:24115288|PMID:25741868|PMID:27774468|PMID:28492532|PMID:29790589|PMID:32755251 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:735297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:9007838 Myocardial Reperfusion Injury susceptibility ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:20185832|REF_RGD_ID:11251775 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:9009039 Hyperemia ISO RGD:1332220 D RGD:9068941 20200609 RGD PMID:18096761|REF_RGD_ID:11251770 9003787 Egln1 egl-9 family hypoxia inducible factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:735297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9003796 Txndc15 thioredoxin domain containing 15 gene DOID:0050778 Meckel syndrome ISO RGD:1312290 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:27894351|PMID:29209597|PMID:31411728 9003796 Txndc15 thioredoxin domain containing 15 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9003796 Txndc15 thioredoxin domain containing 15 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1312290 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive PMID:25741868 9003796 Txndc15 thioredoxin domain containing 15 gene DOID:630 genetic disease ISO RGD:1312290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003796 Txndc15 thioredoxin domain containing 15 gene DOID:9001990 Meckel Syndrome 14 ISO RGD:1312290 D RGD:7240710 20220518 OMIM 9003796 Txndc15 thioredoxin domain containing 15 gene DOID:9001990 Meckel Syndrome 14 ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Meckel syndrome 14 PMID:25741868|PMID:27894351|PMID:31411728 9003796 Txndc15 thioredoxin domain containing 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9003796 Txndc15 thioredoxin domain containing 15 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312290 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9003821 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:0080600 COVID-19 ISO RGD:68966 D RGD:9068941 20200709 RGD mRNA:decreased expression:antibody secreting B cells (human) PMID:32377375|REF_RGD_ID:32716422 9003821 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:0111480 combined oxidative phosphorylation deficiency 10 ISO RGD:68966 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency PMID:28492532 9003821 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:305 carcinoma ISO RGD:68966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9003821 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:3659 sialuria ISO RGD:68966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 9003821 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:68966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 9003821 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:68966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9003821 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:67387 D RGD:9068941 20200609 RGD PMID:25435813|REF_RGD_ID:13506963 9003821 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9003821 Eef1a1 eukaryotic translation elongation factor 1 alpha 1 gene DOID:9007730 Burns ISO RGD:67387 D RGD:9068941 20200609 RGD protein:decreased expression:heart,mitochondrion: PMID:23041468|REF_RGD_ID:10401126 9003884 Rab3c RAB3C, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:732895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003884 Rab3c RAB3C, member RAS oncogene family gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9003899 Zg16 zymogen granule protein 16 gene DOID:0060041 autism spectrum disorder ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 9003899 Zg16 zymogen granule protein 16 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732666 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 9003899 Zg16 zymogen granule protein 16 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:732666 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 9003899 Zg16 zymogen granule protein 16 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732666 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 9003899 Zg16 zymogen granule protein 16 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732666 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 9003899 Zg16 zymogen granule protein 16 gene DOID:12849 autistic disorder ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9003899 Zg16 zymogen granule protein 16 gene DOID:5419 schizophrenia ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9003899 Zg16 zymogen granule protein 16 gene DOID:630 genetic disease ISO RGD:732666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003899 Zg16 zymogen granule protein 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0050127 sinusitis ISO RGD:1347084 D RGD:9068941 20200609 RGD protein:increased secretion:sinus mucus PMID:17063754|REF_RGD_ID:5131192 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347084 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:21506741|PMID:21506748|PMID:23321605|PMID:23692170|PMID:23695349|PMID:23940607|PMID:24033266|PMID:25741868|PMID:25926289|PMID:28492532|PMID:30345907 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0050156 idiopathic pulmonary fibrosis susceptibility ISO RGD:1347084 D RGD:7240710 20230505 OMIM 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0080773 delta beta-thalassemia ISO RGD:1347084 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0111969 immunodeficiency 39 ISO RGD:1347084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:10140 dry eye syndrome ISO RGD:62293 D RGD:9068941 20200609 RGD PMID:23272068|REF_RGD_ID:7364762 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:1347084 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear PMID:14690056|REF_RGD_ID:7349395 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:10754 otitis media ISO RGD:1616427 D RGD:9068941 20200609 RGD associated with CHARGE Syndrome PMID:22539951|REF_RGD_ID:7349405 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:11054 urinary bladder cancer ISO RGD:1347084 D RGD:9068941 20200609 RGD DNA:repeats PMID:19191526|REF_RGD_ID:7349339 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:1347084 D RGD:9068941 20200609 RGD PMID:17255563|REF_RGD_ID:5131191 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:1485 cystic fibrosis ISO RGD:1347084 D RGD:9068941 20200609 RGD protein:altered glycosylation:saliva PMID:11845304|REF_RGD_ID:5131194 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:1347084 D RGD:9068941 20200609 RGD protein:altered expression:sputum PMID:11802783|REF_RGD_ID:5131252 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:2841 asthma ISO RGD:1623927 D RGD:9068941 20200609 RGD PMID:11587997|REF_RGD_ID:7364763 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:2942 bronchiolitis ISO RGD:1347084 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:rs885454,rs17235353, rs7115457 (human) PMID:15709052|REF_RGD_ID:7349353 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1347084 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:18776153|REF_RGD_ID:5131169 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1347084 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:7657125|REF_RGD_ID:2324986 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:4947 cholangiocarcinoma ISO RGD:1347084 D RGD:9068941 20200609 RGD mRNA:decreased expression:bile duct PMID:11680592|REF_RGD_ID:2324948 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:630 genetic disease ISO RGD:1347084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1347084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:9007425 Diffuse Panbronchiolitis ISO RGD:1347084 D RGD:9068941 20200609 RGD DNA:insertion/deletion PMID:15709052|REF_RGD_ID:7349353 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:1347084 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear PMID:16540890|REF_RGD_ID:7364744 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:9008821 Otitis Media with Effusion ISO RGD:1551003 D RGD:9068941 20200609 RGD mRNA:decreased expression:ear PMID:22336013|REF_RGD_ID:7364764 9003906 Muc5b mucin 5B, oligomeric mucus/gel-forming gene DOID:9261 nasopharynx carcinoma ISO RGD:1561983 D RGD:9068941 20200609 RGD PMID:19068094|REF_RGD_ID:2325214 9003980 Epb41l4a erythrocyte membrane protein band 4.1 like 4A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9003980 Epb41l4a erythrocyte membrane protein band 4.1 like 4A gene DOID:630 genetic disease ISO RGD:1314419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9003980 Epb41l4a erythrocyte membrane protein band 4.1 like 4A gene DOID:9001276 Failure to Thrive ISO RGD:1314419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25558065 9003980 Epb41l4a erythrocyte membrane protein band 4.1 like 4A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9003980 Epb41l4a erythrocyte membrane protein band 4.1 like 4A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314419 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9004013 Fgf8 fibroblast growth factor 8 gene DOID:0080201 Peters plus syndrome ISO RGD:733956 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peters plus syndrome PMID:25741868|PMID:28492532|PMID:29584859 9004013 Fgf8 fibroblast growth factor 8 gene DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia ISO RGD:733956 D RGD:7240710 20190904 OMIM 9004013 Fgf8 fibroblast growth factor 8 gene DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia ISO RGD:733956 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 6 with or without anosmia PMID:17360555|PMID:18596921|PMID:20463092|PMID:21045958|PMID:21832120|PMID:23533228|PMID:25741868|PMID:26931467|PMID:28492532|PMID:29584859 9004013 Fgf8 fibroblast growth factor 8 gene DOID:0110881 holoprosencephaly 1 ISO RGD:733956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:18596921|PMID:21045958|PMID:28492532 9004013 Fgf8 fibroblast growth factor 8 gene DOID:10629 microphthalmia ISO RGD:733956 D RGD:9068941 20201218 CTD CTD Direct Evidence: therapeutic PMID:32472575 9004013 Fgf8 fibroblast growth factor 8 gene DOID:10892 hypospadias ISO RGD:70891 D RGD:9068941 20200609 RGD PMID:19464577|REF_RGD_ID:2314151 9004013 Fgf8 fibroblast growth factor 8 gene DOID:10907 microcephaly ISO RGD:733956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9004013 Fgf8 fibroblast growth factor 8 gene DOID:11132 prostatic hypertrophy ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate PMID:10343609|REF_RGD_ID:2289343 9004013 Fgf8 fibroblast growth factor 8 gene DOID:11198 DiGeorge syndrome ISO RGD:1553752 D RGD:9068941 20220825 MouseDO OMIM:188400 9004013 Fgf8 fibroblast growth factor 8 gene DOID:11198 DiGeorge syndrome ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16399080 9004013 Fgf8 fibroblast growth factor 8 gene DOID:1612 breast cancer ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA:increased expression:breast epithelium:significant increase in both the number of tumors expressing FGF8 (p=0.019) and the absolute expression level (p=0.031) PMID:10023681|REF_RGD_ID:2289344 9004013 Fgf8 fibroblast growth factor 8 gene DOID:1911 endodermal sinus tumor ISO RGD:733956 D RGD:9068941 20200609 RGD protein:increased expression:testicular germ cell neoplasms PMID:11764380|REF_RGD_ID:2289339 9004013 Fgf8 fibroblast growth factor 8 gene DOID:3308 embryonal carcinoma ISO RGD:733956 D RGD:9068941 20200609 RGD protein:increased expression:testicular germ cell neoplasms PMID:11764380|REF_RGD_ID:2289339 9004013 Fgf8 fibroblast growth factor 8 gene DOID:3594 choriocarcinoma ISO RGD:733956 D RGD:9068941 20200609 RGD protein:increased expression:testicular germ cell neoplasms PMID:11764380|REF_RGD_ID:2289339 9004013 Fgf8 fibroblast growth factor 8 gene DOID:3614 Kallmann syndrome ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9004013 Fgf8 fibroblast growth factor 8 gene DOID:4621 holoprosencephaly ISO RGD:733956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Semilobar holoprosencephaly PMID:20463092|PMID:22399515|PMID:25131394|PMID:25741868|PMID:26467025|PMID:26857713|PMID:26931467|PMID:27363716|PMID:28492532|PMID:29584859 9004013 Fgf8 fibroblast growth factor 8 gene DOID:630 genetic disease ISO RGD:733956 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9004013 Fgf8 fibroblast growth factor 8 gene DOID:6419 tetralogy of Fallot ISO RGD:1553752 D RGD:9068941 20220825 MouseDO OMIM:187500 9004013 Fgf8 fibroblast growth factor 8 gene DOID:674 cleft palate ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 9004013 Fgf8 fibroblast growth factor 8 gene DOID:8634 prostate carcinoma in situ ISO RGD:733956 D RGD:9068941 20200609 RGD PMID:12208767|REF_RGD_ID:2301097 9004013 Fgf8 fibroblast growth factor 8 gene DOID:9001460 22q11 Deletion Syndrome ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12223415 9004013 Fgf8 fibroblast growth factor 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:prostate:isoforms FGF8a and FGF8e PMID:11406643|REF_RGD_ID:2289340 9004013 Fgf8 fibroblast growth factor 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate:expression negatively correlated with Gleason grade (p = 0.02) PMID:10343609|REF_RGD_ID:2289343 9004013 Fgf8 fibroblast growth factor 8 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:733956 D RGD:9068941 20200609 RGD protein:increased expression:prostate:expression of isoform FGF8b significantly associated with both stage (P=0.0004) and grade (P<0.0001) PMID:12778074|REF_RGD_ID:2289338 9004013 Fgf8 fibroblast growth factor 8 gene DOID:9002457 Experimental Arthritis ISO RGD:70891 D RGD:9068941 20200609 RGD PMID:18699993|REF_RGD_ID:2314157 9004013 Fgf8 fibroblast growth factor 8 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16720880 9004013 Fgf8 fibroblast growth factor 8 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733956 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:11072239|REF_RGD_ID:2289342 9004013 Fgf8 fibroblast growth factor 8 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1553752 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:9840935|REF_RGD_ID:2301098 9004013 Fgf8 fibroblast growth factor 8 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1553752 D RGD:9068941 20200609 RGD PMID:9840935|REF_RGD_ID:2301098 9004013 Fgf8 fibroblast growth factor 8 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16720880 9004013 Fgf8 fibroblast growth factor 8 gene DOID:9296 cleft lip ISO RGD:733956 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 9004020 Mrps21 mitochondrial ribosomal protein S21 gene DOID:0111940 immunodeficiency 42 ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9004020 Mrps21 mitochondrial ribosomal protein S21 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9004020 Mrps21 mitochondrial ribosomal protein S21 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1316574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9004020 Mrps21 mitochondrial ribosomal protein S21 gene DOID:1540 parathyroid carcinoma ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9004020 Mrps21 mitochondrial ribosomal protein S21 gene DOID:5812 MHC class II deficiency ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9004020 Mrps21 mitochondrial ribosomal protein S21 gene DOID:630 genetic disease ISO RGD:1316574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004020 Mrps21 mitochondrial ribosomal protein S21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9004035 Mettl15 methyltransferase 15, mitochondrial 12S rRNA N4-cytidine gene DOID:1059 intellectual disability ISO RGD:1604216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9004035 Mettl15 methyltransferase 15, mitochondrial 12S rRNA N4-cytidine gene DOID:630 genetic disease ISO RGD:1604216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004045 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:0111458 galactose epimerase deficiency ISO RGD:733716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency 9004045 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:630 genetic disease ISO RGD:733716 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15308132|PMID:15752612|PMID:17692550|PMID:19177531|PMID:23465862|PMID:25741868|PMID:25872961|PMID:28257639|PMID:28492532|PMID:28583327|PMID:9163320|PMID:9439591|PMID:9817922 9004045 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9002882 Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency ISO RGD:733716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10916782|PMID:14518825|PMID:15122894|PMID:15308132|PMID:16199547|PMID:16330550|PMID:17173698|PMID:17692550|PMID:19036343|PMID:19177531|PMID:19932602|PMID:23465862|PMID:25741868|PMID:25872961|PMID:28488182|PMID:28492532|PMID:28583327|PMID:28747690|PMID:8798725|PMID:9439591|PMID:9463337|PMID:9784232|PMID:9817922 9004045 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620554 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:5667251|REF_RGD_ID:2326171 9004045 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733716 D RGD:7240710 20180130 OMIM 9004045 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:733716 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase | ClinVar Annotator: match by term: Hydroxymethylglutaric aciduria PMID:10916782|PMID:11129331|PMID:11461194|PMID:12746442|PMID:14518825|PMID:15122894|PMID:15308132|PMID:15752612|PMID:16199547|PMID:16330550|PMID:16601870|PMID:17173698|PMID:17459752|PMID:17576681|PMID:17628222|PMID:17692550|PMID:18080783|PMID:19036343|PMID:19177531|PMID:19932602|PMID:20532825|PMID:23465862|PMID:2443756|PMID:25741868|PMID:25872961|PMID:28220407|PMID:28257639|PMID:28396157|PMID:28488182|PMID:28492532|PMID:28583327|PMID:28747690|PMID:32059735|PMID:34573903|PMID:6085636|PMID:7479590|PMID:8617516|PMID:8798725|PMID:8978493|PMID:9163320|PMID:9439591|PMID:9463337|PMID:9536098|PMID:9784232|PMID:9817922 9004045 Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:733716 D RGD:9068941 20200609 RGD Hydroxymethylglutaric aciduria/HMG-CoA lyase deficiency DNA:deletion, frameshift_mutation:CDS:2-bp deletion in the serine-69 codon PMID:8440722|REF_RGD_ID:1599500 9004067 Psmb10 proteasome 20S subunit beta 10 gene DOID:0060919 proteosome-associated autoinflammatory syndrome 5 ISO RGD:1316619 D RGD:7240710 20210303 OMIM 9004067 Psmb10 proteasome 20S subunit beta 10 gene DOID:0060919 proteosome-associated autoinflammatory syndrome 5 ISO RGD:1316619 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5 PMID:25741868|PMID:31783057 9004067 Psmb10 proteasome 20S subunit beta 10 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9004067 Psmb10 proteasome 20S subunit beta 10 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1316619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 9004067 Psmb10 proteasome 20S subunit beta 10 gene DOID:630 genetic disease ISO RGD:1316619 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9004067 Psmb10 proteasome 20S subunit beta 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316619 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9004088 Hdac1 histone deacetylase 1 gene DOID:0050908 myelodysplastic syndrome ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28963909 9004088 Hdac1 histone deacetylase 1 gene DOID:114 heart disease ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18625706 9004088 Hdac1 histone deacetylase 1 gene DOID:12858 Huntington's disease ISO RGD:1320331 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:22965876|REF_RGD_ID:10402189 9004088 Hdac1 histone deacetylase 1 gene DOID:12858 Huntington's disease ISO RGD:1320331 D RGD:9068941 20200609 RGD protein:increased expression:striatum: PMID:22918830|REF_RGD_ID:9590098 9004088 Hdac1 histone deacetylase 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22711276 9004088 Hdac1 histone deacetylase 1 gene DOID:1686 glaucoma ISO RGD:1309799 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (rat) PMID:28990066|REF_RGD_ID:155630605 9004088 Hdac1 histone deacetylase 1 gene DOID:1686 glaucoma ISO RGD:1320330 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 9004088 Hdac1 histone deacetylase 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527555 9004088 Hdac1 histone deacetylase 1 gene DOID:2377 multiple sclerosis ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm: PMID:20037577|REF_RGD_ID:9590131 9004088 Hdac1 histone deacetylase 1 gene DOID:289 endometriosis ISO RGD:1320330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 9004088 Hdac1 histone deacetylase 1 gene DOID:3213 demyelinating disease ISO RGD:1320331 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm: PMID:20037577|REF_RGD_ID:9590131 9004088 Hdac1 histone deacetylase 1 gene DOID:3459 breast carcinoma ISO RGD:1320330 D RGD:9068941 20200609 RGD PMID:16172792|REF_RGD_ID:2306216 9004088 Hdac1 histone deacetylase 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 9004088 Hdac1 histone deacetylase 1 gene DOID:630 genetic disease ISO RGD:1320330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004088 Hdac1 histone deacetylase 1 gene DOID:6432 pulmonary hypertension ISO RGD:1309799 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 9004088 Hdac1 histone deacetylase 1 gene DOID:6432 pulmonary hypertension ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 9004088 Hdac1 histone deacetylase 1 gene DOID:680 tauopathy ISO RGD:1320331 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:22918830|REF_RGD_ID:9590098 9004088 Hdac1 histone deacetylase 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1320330 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism PMID:32289289 9004088 Hdac1 histone deacetylase 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15042618|REF_RGD_ID:2306219 9004088 Hdac1 histone deacetylase 1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 9004088 Hdac1 histone deacetylase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1309799 D RGD:9068941 20200609 RGD PMID:18464933|REF_RGD_ID:2311214 9004088 Hdac1 histone deacetylase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1309799 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland: PMID:24717552|REF_RGD_ID:9590296 9004088 Hdac1 histone deacetylase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1309799 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:hippocampus: PMID:16380407|REF_RGD_ID:9588242 9004088 Hdac1 histone deacetylase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15042618|PMID:18212746|REF_RGD_ID:2306214|REF_RGD_ID:2306219 9004088 Hdac1 histone deacetylase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17387270|REF_RGD_ID:2306215 9004088 Hdac1 histone deacetylase 1 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1320330 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 9004088 Hdac1 histone deacetylase 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19147762|REF_RGD_ID:2306200 9004088 Hdac1 histone deacetylase 1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19424621|REF_RGD_ID:9588974 9004088 Hdac1 histone deacetylase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309799 D RGD:9068941 20200609 RGD protein:increased activity:renal cortex: PMID:19553350|REF_RGD_ID:9590229 9004088 Hdac1 histone deacetylase 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1309799 D RGD:9068941 20200609 RGD protein:increased expression:Right Ventricular: PMID:22711276|REF_RGD_ID:9590133 9004088 Hdac1 histone deacetylase 1 gene DOID:9007096 Stroke ISO RGD:1309799 D RGD:9068941 20200609 RGD PMID:24657831|REF_RGD_ID:9590303 9004088 Hdac1 histone deacetylase 1 gene DOID:9007715 Endometrial Neoplasms disease_progression ISO RGD:1320330 D RGD:9068941 20200609 RGD PMID:18714364|REF_RGD_ID:2306205 9004088 Hdac1 histone deacetylase 1 gene DOID:9256 colorectal cancer ISO RGD:1320330 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 9004088 Hdac1 histone deacetylase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320331 D RGD:9068941 20200609 RGD protein:increased activity:kidney: PMID:19553350|REF_RGD_ID:9590229 9004088 Hdac1 histone deacetylase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1320330 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic beta cell: PMID:22772764|REF_RGD_ID:9590127 9004088 Hdac1 histone deacetylase 1 gene DOID:986 alopecia areata ISO RGD:1320330 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:21936853|REF_RGD_ID:9587460 9004088 Hdac1 histone deacetylase 1 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:1320330 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow,blood: PMID:23948281|REF_RGD_ID:9681454 9004116 Ano4 anoctamin 4 gene DOID:289 endometriosis ISO RGD:1321043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 9004116 Ano4 anoctamin 4 gene DOID:303 substance-related disorder ISO RGD:1321043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9004116 Ano4 anoctamin 4 gene DOID:630 genetic disease ISO RGD:1321043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004164 Ankef1 ankyrin repeat and EF-hand domain containing 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1312470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 9004164 Ankef1 ankyrin repeat and EF-hand domain containing 1 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1312470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 9004164 Ankef1 ankyrin repeat and EF-hand domain containing 1 gene DOID:630 genetic disease ISO RGD:1312470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004164 Ankef1 ankyrin repeat and EF-hand domain containing 1 gene DOID:9003698 ALAGILLE SYNDROME 1 ISO RGD:1312470 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:28492532 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:0060265 pontocerebellar hypoplasia type 1A ISO RGD:1314472 D RGD:7240710 20180130 OMIM 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:0060265 pontocerebellar hypoplasia type 1A ISO RGD:1314472 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia type 1 | ClinVar Annotator: match by term: Distal hereditary motor neuropathy associated with upper motor neuron signs | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A | ClinVar Annotator: match by term: Pontocerebellar hypoplasia with anterior horn cell disease PMID:16199547|PMID:17576681|PMID:18414213|PMID:19646678|PMID:19763152|PMID:20307669|PMID:21937992|PMID:22406018|PMID:24088041|PMID:24126608|PMID:25356970|PMID:25741868|PMID:26467025|PMID:26583493|PMID:26633545|PMID:27281532|PMID:28492532|PMID:30617279|PMID:30847374|PMID:31090908|PMID:31167812|PMID:31178479|PMID:31527692|PMID:31560180|PMID:31837156|PMID:32242460|PMID:32298515|PMID:32365420|PMID:34169149|PMID:35641352|PMID:9536098 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B PMID:25741868|PMID:28492532 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:0060839 isolated microphthalmia 2 ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 2 PMID:25741868|PMID:28492532 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 ISO RGD:1314472 D RGD:7240710 20231101 OMIM 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 ISO RGD:1314472 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 10 PMID:19646678|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:30617279|PMID:30847374|PMID:31090908|PMID:31527692|PMID:31837156|PMID:32298515|PMID:34169149 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:0112322 pontocerebellar hypoplasia type 1 ISO RGD:1314472 D RGD:9068941 20220721 CTD CTD Direct Evidence: marker/mechanism 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:1059 intellectual disability ISO RGD:1314472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:12377 spinal muscular atrophy ISO RGD:1314472 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:18414213|PMID:25741868|PMID:27281532|PMID:28492532|PMID:31090908|PMID:31527692|PMID:35641352 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1314472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:31090908 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1314472 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:18414213|PMID:19646678|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532|PMID:31527692|PMID:31837156|PMID:32242460|PMID:34169149|PMID:35641352|PMID:9536098 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1314472 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868|PMID:26583493|PMID:26633545|PMID:28492532|PMID:31167812|PMID:31527692 9004184 Vrk1 VRK serine/threonine kinase 1 gene DOID:9007653 Multiple Abnormalities ISO RGD:1314472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:19646678|PMID:24126608|PMID:25356970|PMID:25741868|PMID:27281532|PMID:28492532 9004211 Pdzrn3 PDZ domain containing ring finger 3 gene DOID:630 genetic disease ISO RGD:1313169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004211 Pdzrn3 PDZ domain containing ring finger 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9004211 Pdzrn3 PDZ domain containing ring finger 3 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1313169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 9004211 Pdzrn3 PDZ domain containing ring finger 3 gene DOID:9007661 Dwarfism ISO RGD:1313169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 9004229 Gucy2c guanylate cyclase 2C gene DOID:0060296 congenital secretory chloride diarrhea 1 ISO RGD:732111 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE PMID:25741868|PMID:28492532 9004229 Gucy2c guanylate cyclase 2C gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:736529 D RGD:9068941 20220825 MouseDO 9004229 Gucy2c guanylate cyclase 2C gene DOID:0060780 congenital diarrhea 6 ISO RGD:732111 D RGD:7240710 20190904 OMIM 9004229 Gucy2c guanylate cyclase 2C gene DOID:0060780 congenital diarrhea 6 ISO RGD:732111 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital diarrhea 6 PMID:22436048|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33883099 9004229 Gucy2c guanylate cyclase 2C gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:732111 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 9004229 Gucy2c guanylate cyclase 2C gene DOID:0080216 duodenal atresia ISO RGD:732111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duodenal atresia 9004229 Gucy2c guanylate cyclase 2C gene DOID:13250 diarrhea ISO RGD:732111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22436048 9004229 Gucy2c guanylate cyclase 2C gene DOID:630 genetic disease ISO RGD:732111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9004229 Gucy2c guanylate cyclase 2C gene DOID:9006465 Meconium Ileus ISO RGD:732111 D RGD:7240710 20180130 OMIM 9004229 Gucy2c guanylate cyclase 2C gene DOID:9006465 Meconium Ileus ISO RGD:732111 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | ClinVar Annotator: match by term: Meconium ileus PMID:22521417|PMID:24033266|PMID:25370039|PMID:25741868|PMID:28492532|PMID:33223529|PMID:33883099|PMID:4006357 9004229 Gucy2c guanylate cyclase 2C gene DOID:9008443 Colorectal Neoplasms ISO RGD:732111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17155897 9004229 Gucy2c guanylate cyclase 2C gene DOID:9970 obesity ISO RGD:736529 D RGD:9068941 20220825 MouseDO OMIM:601665 9004264 Nudt4 nudix hydrolase 4 gene DOID:630 genetic disease ISO RGD:1320353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004275 Duox2 dual oxidase 2 gene DOID:0050328 congenital hypothyroidism ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:12110737|PMID:16322276|PMID:16608528|PMID:17121535|PMID:18765513|PMID:19789206|PMID:20972728|PMID:21565790|PMID:24033266|PMID:24423310|PMID:24735383|PMID:25741868|PMID:26990548|PMID:27525530|PMID:27557340|PMID:27821020|PMID:28492532|PMID:28666341|PMID:30084132|PMID:30240412|PMID:30487145|PMID:31044655|PMID:32765423 9004275 Duox2 dual oxidase 2 gene DOID:0050712 AGAT deficiency ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 9004275 Duox2 dual oxidase 2 gene DOID:0112183 familial thyroid dyshormonogenesis ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis PMID:12110737|PMID:16322276|PMID:18765513|PMID:20972728|PMID:21565790|PMID:21900383|PMID:23457309|PMID:24033266|PMID:24423310|PMID:24735383|PMID:25248169|PMID:25741868|PMID:26709262|PMID:26990548|PMID:27525530|PMID:27821020|PMID:28492532|PMID:28666341|PMID:29092890|PMID:29650690|PMID:30084132|PMID:30240412|PMID:30487145|PMID:31044655|PMID:32765423 9004275 Duox2 dual oxidase 2 gene DOID:0112189 thyroid dyshormonogenesis 6 ISO RGD:1353863 D RGD:7240710 20180130 OMIM 9004275 Duox2 dual oxidase 2 gene DOID:0112189 thyroid dyshormonogenesis 6 ISO RGD:1353863 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DUOX2-related condition | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6 PMID:12110737|PMID:16134168|PMID:16199547|PMID:16322276|PMID:16608528|PMID:17121535|PMID:17374849|PMID:17576681|PMID:18765513|PMID:19789206|PMID:20187165|PMID:20972728|PMID:21565790|PMID:21704604|PMID:21900383|PMID:22336364|PMID:23457309|PMID:24033266|PMID:24127536|PMID:24423310|PMID:24735383|PMID:25248169|PMID:25616291|PMID:25741868|PMID:25928756|PMID:26301257|PMID:26334177|PMID:26349762|PMID:26506010|PMID:26565538|PMID:26709262|PMID:26742565|PMID:26990548|PMID:27108200|PMID:27166716|PMID:27349010|PMID:27498126|PMID:27525530|PMID:27557340|PMID:27821020|PMID:28414800|PMID:28444304|PMID:28492532|PMID:28541007|PMID:28648510|PMID:28666341|PMID:28683258|PMID:29092890|PMID:29435108|PMID:29546359|PMID:29650690|PMID:30022773|PMID:30084132|PMID:30154845|PMID:30240412|PMID:30487145|PMID:30512158|PMID:30894704|PMID:31030636|PMID:31044655|PMID:31287502|PMID:32319661|PMID:32425884|PMID:32459320|PMID:32469330|PMID:32765423|PMID:32803677|PMID:33310921|PMID:33490161|PMID:33631011|PMID:33651715|PMID:34200080|PMID:34248839|PMID:34276565|PMID:34456971|PMID:34539567|PMID:34564849|PMID:34780050|PMID:36071330|PMID:36703223|PMID:9536098 9004275 Duox2 dual oxidase 2 gene DOID:1498 cholera treatment ISO RGD:1353863 D RGD:9068941 20210122 RGD PMID:29133347|REF_RGD_ID:40925924 9004275 Duox2 dual oxidase 2 gene DOID:1909 melanoma ISO RGD:1353863 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 9004275 Duox2 dual oxidase 2 gene DOID:2717 Bloom syndrome ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9004275 Duox2 dual oxidase 2 gene DOID:50 thyroid gland disease ISO RGD:1353863 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormal circulating thyroid hormone concentration PMID:25741868|PMID:28492532 9004275 Duox2 dual oxidase 2 gene DOID:630 genetic disease ISO RGD:1353863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12110737|PMID:16322276|PMID:17576681|PMID:18765513|PMID:19789206|PMID:20972728|PMID:21565790|PMID:21900383|PMID:23457309|PMID:24033266|PMID:24127536|PMID:24423310|PMID:24735383|PMID:25248169|PMID:25741868|PMID:26709262|PMID:26990548|PMID:27525530|PMID:27821020|PMID:28492532|PMID:28666341|PMID:29092890|PMID:29650690|PMID:30084132|PMID:30240412|PMID:30375286|PMID:30487145|PMID:31044655|PMID:31867598|PMID:32319661|PMID:32765423|PMID:9536098 9004275 Duox2 dual oxidase 2 gene DOID:8577 ulcerative colitis ISO RGD:1353863 D RGD:9068941 20210122 RGD mRNA:increased expression:colon (human) PMID:19759286|REF_RGD_ID:40924645 9004275 Duox2 dual oxidase 2 gene DOID:8778 Crohn's disease ISO RGD:1353863 D RGD:9068941 20210122 RGD mRNA:increased expression:colon (human) PMID:19759286|REF_RGD_ID:40924645 9004275 Duox2 dual oxidase 2 gene DOID:9000371 influenza A severity ISO RGD:1332300 D RGD:9068941 20210122 RGD PMID:25751630|PMID:28936773|PMID:29556357|REF_RGD_ID:40924644|REF_RGD_ID:40925921|REF_RGD_ID:40925925 9004275 Duox2 dual oxidase 2 gene DOID:9007120 Meckel Syndrome 11 ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 11 PMID:21565790|PMID:25741868|PMID:28492532 9004275 Duox2 dual oxidase 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 9004275 Duox2 dual oxidase 2 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:1353863 D RGD:9068941 20210115 RGD mRNA,protein:decreased expression:mucosa of stomach (human) PMID:27048452|REF_RGD_ID:40924640 9004275 Duox2 dual oxidase 2 gene DOID:9256 colorectal cancer ISO RGD:1353863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9004312 Mustn1 musculoskeletal, embryonic nuclear protein 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1352078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 9004319 Suox sulfite oxidase gene DOID:0060041 autism spectrum disorder ISO RGD:733312 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9004319 Suox sulfite oxidase gene DOID:0111270 isolated sulfite oxidase deficiency ISO RGD:733312 D RGD:7240710 20180130 OMIM 9004319 Suox sulfite oxidase gene DOID:0111270 isolated sulfite oxidase deficiency ISO RGD:733312 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Isolated sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfite oxidase deficiency | ClinVar Annotator: match by term: Sulfocysteinuria PMID:10519592|PMID:12001203|PMID:12112661|PMID:1212661|PMID:12368985|PMID:15952210|PMID:16140720|PMID:17576681|PMID:17940249|PMID:19339519|PMID:19793632|PMID:22865819|PMID:23994568|PMID:24756183|PMID:24938149|PMID:25741868|PMID:25758000|PMID:28492532|PMID:28629418|PMID:28725568|PMID:28933809|PMID:28980090|PMID:29590070|PMID:31127934|PMID:31870341|PMID:32978145|PMID:33098801|PMID:33333793|PMID:34025712|PMID:34420858|PMID:34741542|PMID:34957373|PMID:35679912|PMID:35872528|PMID:9050047|PMID:9428520|PMID:9536098|PMID:9600976 9004319 Suox sulfite oxidase gene DOID:0111888 Diamond-Blackfan anemia 10 ISO RGD:733312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:20116044|PMID:22045982|PMID:22689679|PMID:23718193|PMID:28492532 9004319 Suox sulfite oxidase gene DOID:630 genetic disease ISO RGD:733312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12001203|PMID:12112661|PMID:12368985|PMID:19339519|PMID:23994568|PMID:25741868|PMID:28492532|PMID:28725568|PMID:29590070|PMID:31870341|PMID:34025712|PMID:34420858|PMID:35679912|PMID:9428520|PMID:9600976 9004319 Suox sulfite oxidase gene DOID:655 inherited metabolic disorder susceptibility ISO RGD:733312 D RGD:9068941 20200609 RGD DNA:mutations PMID:12112661|REF_RGD_ID:1600121 9004319 Suox sulfite oxidase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 9004319 Suox sulfite oxidase gene DOID:9452 steatotic liver disease ISO RGD:619994 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15144217|REF_RGD_ID:1600114 9004333 Rpl4 ribosomal protein L4 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:732803 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex PMID:25741868 9004333 Rpl4 ribosomal protein L4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:732803 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9004333 Rpl4 ribosomal protein L4 gene DOID:2717 Bloom syndrome ISO RGD:732803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9004333 Rpl4 ribosomal protein L4 gene DOID:630 genetic disease ISO RGD:732803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004333 Rpl4 ribosomal protein L4 gene DOID:9002189 High Myopia ISO RGD:732803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 9004333 Rpl4 ribosomal protein L4 gene DOID:9004484 Sepsis ISO RGD:732803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27978524 9004333 Rpl4 ribosomal protein L4 gene DOID:9256 colorectal cancer ISO RGD:732803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 9004348 Cetn3 centrin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733085 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9004348 Cetn3 centrin 3 gene DOID:630 genetic disease ISO RGD:733085 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004348 Cetn3 centrin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9004348 Cetn3 centrin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733085 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:0060478 Zika fever ISO RGD:732704 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:10241 thalassemia ISO RGD:732704 D RGD:9068941 20220825 MouseDO 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:224 transient cerebral ischemia ISO RGD:621526 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:15255948|REF_RGD_ID:9999154 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:2316 brain ischemia ISO RGD:621526 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, caudate nucleus (rat) PMID:15713259|REF_RGD_ID:9999408 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:3213 demyelinating disease severity ISO RGD:732704 D RGD:9068941 20200609 RGD PMID:18818381|REF_RGD_ID:9999156 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:732704 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord, astrocyte, microglia (mouse) PMID:23118353|REF_RGD_ID:9999418 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:630 genetic disease ISO RGD:1342864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:9000039 Spinal Cord Injuries ISO RGD:1342864 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:9000039 Spinal Cord Injuries ISO RGD:621526 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (rat) PMID:17578450|REF_RGD_ID:9999410 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1342864 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:liver PMID:26234401|REF_RGD_ID:32716425 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:9002804 Amaurosis Fugax ISO RGD:732704 D RGD:9068941 20200609 RGD mRNA:increased expression:neuroretina (mouse) PMID:17975099|REF_RGD_ID:9999160 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:9002884 Emphysema ISO RGD:621526 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:22675432|REF_RGD_ID:9999407 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:9007096 Stroke treatment ISO RGD:621526 D RGD:9068941 20200609 RGD PMID:24573692|REF_RGD_ID:9999417 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:1342864 D RGD:9068941 20200609 RGD mRNA:increased expression:jejunum (human) PMID:20965186|REF_RGD_ID:9999150 9004368 Ppp1r15a protein phosphatase 1 regulatory subunit 15A gene DOID:9008163 Chronic Hepatitis B ISO RGD:1342864 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:liver PMID:26234401|REF_RGD_ID:32716425 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:733467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0050476 Barth syndrome ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:733467 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0050873 follicular lymphoma ISO RGD:733467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691987 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:733467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:23220634|PMID:26930212|PMID:28492532 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0112002 immunodeficiency 47 ISO RGD:733467 D RGD:7240710 20190315 OMIM 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0112002 immunodeficiency 47 ISO RGD:733467 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Immunodeficiency 47 PMID:25741868|PMID:27231034|PMID:28492532|PMID:28688840|PMID:29192153|PMID:29396028|PMID:32058063|PMID:32216104|PMID:35379322 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:733467 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:1227 neutropenia ISO RGD:733467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:12849 autistic disorder ISO RGD:733467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:13628 favism ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:733467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:607 paraplegia ISO RGD:733467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:630 genetic disease ISO RGD:733467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9004375 Atp6ap1 ATPase H+ transporting accessory protein 1 gene DOID:9002720 Splenomegaly ISO RGD:733467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:0060478 Zika fever ISO RGD:62396 D RGD:9068941 20200702 RGD mRNA:increased expression:brain PMID:30241539|REF_RGD_ID:32733625 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:69165 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:28492532 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:10320 asbestosis ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25324550 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:2316 brain ischemia ISO RGD:62391 D RGD:9068941 20200609 RGD Protein:increased expression:brain PMID:15921666|REF_RGD_ID:1599731 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:2527 nephrosis ISO RGD:62391 D RGD:9068941 20200609 RGD Protein:increased expression:glomerulus, podocyte PMID:16400006|REF_RGD_ID:1599729 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:2527 nephrosis ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16400006 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:2773 contact dermatitis ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:2957 pulmonary tuberculosis ISO RGD:69165 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:lung PMID:20856677|REF_RGD_ID:34888225 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:3021 acute kidney failure ISO RGD:62391 D RGD:9068941 20200609 RGD Protein:increased expression:renal tubule epithelium PMID:15476864|REF_RGD_ID:1599736 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:62391 D RGD:9068941 20200609 RGD PMID:24694971|REF_RGD_ID:13782182 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:5154 borna disease ISO RGD:62391 D RGD:9068941 20200702 RGD mRNA,protein:increased expression:cerebellum, hippocampus PMID:16912310|REF_RGD_ID:32733622 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:5199 ureteral obstruction treatment ISO RGD:62391 D RGD:9068941 20200609 RGD PMID:25707520|REF_RGD_ID:13782175 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:5295 intestinal disease ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:5363 myxoid liposarcoma ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1283316|PMID:7503811|PMID:8510758 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:5363 myxoid liposarcoma ISO RGD:69165 D RGD:9068941 20200609 RGD DNA:translocation: ;t(12;16)(q13;p11) PMID:1283316|REF_RGD_ID:1599726 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:62391 D RGD:9068941 20200903 RGD protein:increased expression:lung PMID:32209028|REF_RGD_ID:38549370 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:69165 D RGD:9068941 20200903 RGD protein:increased expression:lung, endothelial cell PMID:32209028|REF_RGD_ID:38549370 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:5844 myocardial infarction ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:607 paraplegia ISO RGD:69165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:630 genetic disease ISO RGD:69165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:6846 familial melanoma ISO RGD:69165 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29793971 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:62391 D RGD:9068941 20200709 RGD PMID:30226536|REF_RGD_ID:35316073 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:62396 D RGD:9068941 20230525 RGD PMID:34144219|REF_RGD_ID:329812011 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:69165 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:28492532 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:62391 D RGD:9068941 20200709 RGD associated with Crush Injuries PMID:30465396|REF_RGD_ID:34901874 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9004713 Acute-Phase Reaction ISO RGD:62391 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:8051100|REF_RGD_ID:1599745 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9005175 Ulcer ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668000 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:62391 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:62396 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9008022 Temporomandibular Joint Osteoarthritis ISO RGD:62391 D RGD:9068941 20200709 RGD mRNA,protein:increased expression:chondrocyte PMID:31007149|REF_RGD_ID:34888237 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9008939 Breast Neoplasms ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14604972 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9282 ocular hypertension ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24691439 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9452 steatotic liver disease ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23499715 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9870 galactosemia ISO RGD:62391 D RGD:9068941 20200609 RGD Protein:increased expression:lens epithelium PMID:16936110|REF_RGD_ID:1599728 9004389 Ddit3 DNA damage inducible transcript 3 gene DOID:9970 obesity ISO RGD:69165 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26655953 9004400 Slc3a1 solute carrier family 3 member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1345624 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:12234283|PMID:16225397|PMID:18704508|PMID:24610330|PMID:25109415|PMID:25741868|PMID:25964309|PMID:28492532|PMID:28646536|PMID:7539209|PMID:9186880|PMID:9768685 9004400 Slc3a1 solute carrier family 3 member 1 gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1345624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 9004400 Slc3a1 solute carrier family 3 member 1 gene DOID:0080587 congenital myasthenic syndrome 22 ISO RGD:1345624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 22 PMID:10737983|PMID:17576681|PMID:19782624|PMID:22796000|PMID:24610330|PMID:25741868|PMID:28492532|PMID:32707643|PMID:9536098 9004400 Slc3a1 solute carrier family 3 member 1 gene DOID:1059 intellectual disability ISO RGD:1345624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9004400 Slc3a1 solute carrier family 3 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:1345624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:18947684|PMID:24610330|PMID:25109415|PMID:25741868|PMID:25964309|PMID:28492532|PMID:28646536|PMID:28893421|PMID:33262960 9004400 Slc3a1 solute carrier family 3 member 1 gene DOID:3883 Lynch syndrome ISO RGD:1345624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 9004400 Slc3a1 solute carrier family 3 member 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1345624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 9004400 Slc3a1 solute carrier family 3 member 1 gene DOID:630 genetic disease ISO RGD:1345624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9004400 Slc3a1 solute carrier family 3 member 1 gene DOID:9266 cystinuria ISO RGD:1345624 D RGD:7240710 20180130 OMIM 9004400 Slc3a1 solute carrier family 3 member 1 gene DOID:9266 cystinuria ISO RGD:1345624 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I PMID:10464673|PMID:10620184|PMID:10737983|PMID:11260385|PMID:11524703|PMID:11748844|PMID:12036192|PMID:12234283|PMID:12820697|PMID:14531788|PMID:14561219|PMID:14991253|PMID:15635077|PMID:15691362|PMID:16138908|PMID:16199547|PMID:16225397|PMID:16374432|PMID:17010017|PMID:17576681|PMID:17880288|PMID:18234729|PMID:18332091|PMID:18414213|PMID:18704508|PMID:18947684|PMID:19782624|PMID:20517292|PMID:21255007|PMID:21488254|PMID:21677404|PMID:22480232|PMID:22493502|PMID:22796000|PMID:23007880|PMID:23532419|PMID:24033266|PMID:24215330|PMID:24610330|PMID:25109415|PMID:25296721|PMID:25640679|PMID:25741868|PMID:25964309|PMID:26123750|PMID:26537754|PMID:28166740|PMID:28492532|PMID:28646536|PMID:28717662|PMID:28893421|PMID:30146843|PMID:30586318|PMID:30773290|PMID:32133030|PMID:33262960|PMID:33349102|PMID:33532864|PMID:37716586|PMID:7539209|PMID:7573036|PMID:8054986|PMID:8731106|PMID:8792820|PMID:9083097|PMID:9186880|PMID:9536098|PMID:9648062|PMID:9719865|PMID:9768685 9004400 Slc3a1 solute carrier family 3 member 1 gene DOID:9266 cystinuria susceptibility ISO RGD:1345624 D RGD:9068941 20200609 RGD DNA:missense mutations PMID:8054986|REF_RGD_ID:1600015 9004431 Nmi N-myc and STAT interactor gene DOID:0080600 COVID-19 ISO RGD:1323327 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9004431 Nmi N-myc and STAT interactor gene DOID:630 genetic disease ISO RGD:1323327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004431 Nmi N-myc and STAT interactor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:0080600 COVID-19 ISO RGD:1312821 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32404436 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:0080690 RASopathy ISO RGD:1312821 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1312821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312821 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:1059 intellectual disability ISO RGD:1312821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:630 genetic disease ISO RGD:1312821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:9001488 Human Influenza ISO RGD:1312821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26889029 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9004444 Tmprss4 transmembrane serine protease 4 gene DOID:9007661 Dwarfism ISO RGD:1312821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9004461 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0050753 cerebellar ataxia ISO RGD:12374603 D RGD:9068941 20230629 OMIA Ataxia, cerebellar, ATP1B2-related PMID:28620085|PMID:37341581 9004461 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736555 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9004461 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:736555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9004461 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:736555 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 9004461 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:12177 common variable immunodeficiency ISO RGD:736555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9004461 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:736555 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 9004461 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:2729 dyskeratosis congenita ISO RGD:736555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9004461 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:736555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 9004461 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:3070 high grade glioma ISO RGD:736555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16865689 9004461 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:736555 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25129146 9004461 Atp1b2 ATPase Na+/K+ transporting subunit beta 2 gene DOID:630 genetic disease ISO RGD:736555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004472 Ubqln3 ubiquilin 3 gene DOID:630 genetic disease ISO RGD:1312638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004477 Actmap actin maturation protease gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9004477 Actmap actin maturation protease gene DOID:1342 congenital hypoplastic anemia ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9004477 Actmap actin maturation protease gene DOID:2340 craniosynostosis ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 9004477 Actmap actin maturation protease gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9004477 Actmap actin maturation protease gene DOID:9269 maple syrup urine disease ISO RGD:1604490 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9004493 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:0050545 visceral heterotaxy ISO RGD:1352736 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Situs ambiguus | ClinVar Annotator: match by term: Visceral heterotaxy PMID:33655537 9004493 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9004493 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:630 genetic disease ISO RGD:1352736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27616478|PMID:28492532|PMID:31026592 9004493 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:758 situs inversus ISO RGD:1352736 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Laterality sequence | ClinVar Annotator: match by term: Situs inversus PMID:25741868|PMID:27616478|PMID:30664273|PMID:32111882 9004493 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:758 situs inversus susceptibility ISO RGD:1615749 D RGD:9068941 20221027 RGD PMID:20080492|REF_RGD_ID:155630601 9004493 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:9000438 Subarachnoid Hemorrhage susceptibility ISO RGD:1352736 D RGD:9068941 20221027 RGD DNA:polymorphism:cds:p.Gly243Asp(human) PMID:16741147|REF_RGD_ID:155630602 9004493 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:9007421 Visceral Heterotaxy 8, Autosomal ISO RGD:1352736 D RGD:7240710 20190315 OMIM 9004493 Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting gene DOID:9007421 Visceral Heterotaxy 8, Autosomal ISO RGD:1352736 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal | ClinVar Annotator: match by term: PKD1L1-related condition PMID:25741868|PMID:27616478|PMID:28492532|PMID:30664273|PMID:30791085|PMID:31026592|PMID:32111882|PMID:33655537|PMID:34008892|PMID:35691949 9004551 Lemd1 LEM domain containing 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346619 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9004551 Lemd1 LEM domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1346619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9004551 Lemd1 LEM domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9004551 Lemd1 LEM domain containing 1 gene DOID:630 genetic disease ISO RGD:1346619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004551 Lemd1 LEM domain containing 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346619 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9004551 Lemd1 LEM domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346619 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9004566 Tigit T cell immunoreceptor with Ig and ITIM domains gene DOID:630 genetic disease ISO RGD:1606681 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004580 Gtf2a2 general transcription factor IIA subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:737167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9004580 Gtf2a2 general transcription factor IIA subunit 2 gene DOID:630 genetic disease ISO RGD:737167 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004580 Gtf2a2 general transcription factor IIA subunit 2 gene DOID:9256 colorectal cancer ISO RGD:737167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 9004588 Znf185 zinc finger protein 185 with LIM domain gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9004588 Znf185 zinc finger protein 185 with LIM domain gene DOID:0050476 Barth syndrome ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9004588 Znf185 zinc finger protein 185 with LIM domain gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9004588 Znf185 zinc finger protein 185 with LIM domain gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 9004588 Znf185 zinc finger protein 185 with LIM domain gene DOID:10588 adrenoleukodystrophy ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9004588 Znf185 zinc finger protein 185 with LIM domain gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9004588 Znf185 zinc finger protein 185 with LIM domain gene DOID:12849 autistic disorder ISO RGD:1352809 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9004588 Znf185 zinc finger protein 185 with LIM domain gene DOID:13628 favism ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 9004588 Znf185 zinc finger protein 185 with LIM domain gene DOID:2729 dyskeratosis congenita ISO RGD:1352809 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 9004588 Znf185 zinc finger protein 185 with LIM domain gene DOID:607 paraplegia ISO RGD:1352809 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9004588 Znf185 zinc finger protein 185 with LIM domain gene DOID:630 genetic disease ISO RGD:1352809 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0050549 Saldino-Noonan syndrome ISO RGD:1606227 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Saldino-Noonan Syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome Saldino-Noonan type PMID:19442771|PMID:23339108|PMID:23456818|PMID:25741868|PMID:26874042|PMID:28492532|PMID:29068549|PMID:34740920 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606227 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:16199547|PMID:17576681|PMID:19361615|PMID:19442771|PMID:21211617|PMID:22499340|PMID:23339108|PMID:23456818|PMID:24033266|PMID:24123776|PMID:24183451|PMID:24759409|PMID:24781753|PMID:25356970|PMID:25410398|PMID:25492405|PMID:25741868|PMID:25982780|PMID:26489029|PMID:26826164|PMID:26874042|PMID:26938784|PMID:27925158|PMID:28492532|PMID:28832562|PMID:28973083|PMID:29068549|PMID:29096039|PMID:29453417|PMID:29620724|PMID:29947050|PMID:30190612|PMID:30655312|PMID:30773290|PMID:31413057|PMID:31415973|PMID:31730820|PMID:31943948|PMID:32494556|PMID:32753734|PMID:33452237|PMID:33694158|PMID:33755199|PMID:33875766|PMID:34040173|PMID:34529350|PMID:34740920|PMID:34958143|PMID:35627109|PMID:9536098 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1606227 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:19442771|PMID:23339108|PMID:23456818|PMID:25741868|PMID:26874042|PMID:28492532|PMID:29068549|PMID:32753734|PMID:34740920 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1606227 D RGD:7240710 20180130 OMIM 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110087 asphyxiating thoracic dystrophy 3 ISO RGD:1606227 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-Related Disorder | ClinVar Annotator: match by term: DYNC2H1-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly PMID:16199547|PMID:17576681|PMID:19361615|PMID:19442771|PMID:21211617|PMID:22499340|PMID:23339108|PMID:23456818|PMID:24033266|PMID:24123776|PMID:24183451|PMID:24759409|PMID:25326635|PMID:25356970|PMID:25410398|PMID:25492405|PMID:25741868|PMID:25741887|PMID:25741891|PMID:26489029|PMID:26826164|PMID:26874042|PMID:26938784|PMID:27353043|PMID:27925158|PMID:28492532|PMID:28832562|PMID:28973083|PMID:29068549|PMID:29453417|PMID:29947050|PMID:30190612|PMID:30655312|PMID:30773290|PMID:31415973|PMID:31730820|PMID:31935347|PMID:31943948|PMID:32494556|PMID:32753734|PMID:33532864|PMID:33694158|PMID:33755199|PMID:33875766|PMID:34040173|PMID:34740920|PMID:34853893|PMID:34958143|PMID:35587316|PMID:35627109|PMID:35929941|PMID:36352425|PMID:36599940|PMID:36797717|PMID:37091781|PMID:9536098 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1606227 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:23339108|PMID:24183451|PMID:25741868|PMID:26938784|PMID:28492532|PMID:29068549|PMID:32753734|PMID:33755199 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:1606227 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:16199547|PMID:23339108|PMID:28492532|PMID:29068549|PMID:32753734|PMID:33755199 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:10487 Hirschsprung's disease ISO RGD:1606227 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:32753734 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:1606227 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22499340|PMID:25741868|PMID:26489029|PMID:26938784|PMID:28492532|PMID:28832562|PMID:29068549|PMID:29453417|PMID:30190612|PMID:31730820 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:25741868|PMID:28492532|PMID:29068549 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:14679 VACTERL association ISO RGD:735308 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:1682 congenital heart disease ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:29458881|PMID:31680349 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1606227 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:630 genetic disease ISO RGD:1606227 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19442771|PMID:23339108|PMID:25356970|PMID:25410398|PMID:25741868|PMID:28492532|PMID:28973083|PMID:35627109|PMID:9536098 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intrauterine growth restriction PMID:19442771|PMID:23339108|PMID:23456818|PMID:25741868|PMID:28492532|PMID:29068549 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9005616 Micrognathism ISO RGD:1606227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9007073 Cough ISO RGD:1606227 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cough PMID:23456818|PMID:25741868|PMID:26874042|PMID:28492532|PMID:29068549|PMID:34740920 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1606227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 9004629 Dync2h1 dynein cytoplasmic 2 heavy chain 1 gene DOID:9249 Beemer-Langer syndrome ISO RGD:1606227 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome PMID:25741868|PMID:26826164|PMID:28492532|PMID:29068549 9004722 Rtn4 reticulon 4 gene DOID:11832 visual epilepsy ISO RGD:620989 D RGD:9068941 20200609 RGD PMID:17439704|REF_RGD_ID:2314957 9004722 Rtn4 reticulon 4 gene DOID:5419 schizophrenia ISO RGD:730919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071518 9004722 Rtn4 reticulon 4 gene DOID:630 genetic disease ISO RGD:730919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004722 Rtn4 reticulon 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9004737 Slco1c1 solute carrier organic anion transporter family member 1C1 gene DOID:0060041 autism spectrum disorder ISO RGD:731528 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9004737 Slco1c1 solute carrier organic anion transporter family member 1C1 gene DOID:12236 primary biliary cholangitis ISO RGD:628660 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:15770136|REF_RGD_ID:14700810 9004737 Slco1c1 solute carrier organic anion transporter family member 1C1 gene DOID:630 genetic disease ISO RGD:731528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004768 Arid3c AT-rich interaction domain 3C gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1342507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9004768 Arid3c AT-rich interaction domain 3C gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1342507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 9004768 Arid3c AT-rich interaction domain 3C gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1342507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9004768 Arid3c AT-rich interaction domain 3C gene DOID:0080942 anauxetic dysplasia ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 9004768 Arid3c AT-rich interaction domain 3C gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1342507 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 9004768 Arid3c AT-rich interaction domain 3C gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9004768 Arid3c AT-rich interaction domain 3C gene DOID:630 genetic disease ISO RGD:1342507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004768 Arid3c AT-rich interaction domain 3C gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342507 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9004768 Arid3c AT-rich interaction domain 3C gene DOID:9870 galactosemia ISO RGD:1342507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9004778 Vegfa vascular endothelial growth factor A gene DOID:0001816 angiosarcoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 9004778 Vegfa vascular endothelial growth factor A gene DOID:0002116 pterygium ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:conjunctiva: PMID:15885787|REF_RGD_ID:8549762 9004778 Vegfa vascular endothelial growth factor A gene DOID:0050185 erythema multiforme ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:7738351|REF_RGD_ID:7421578 9004778 Vegfa vascular endothelial growth factor A gene DOID:0050444 infantile Refsum disease ISO RGD:731072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9004778 Vegfa vascular endothelial growth factor A gene DOID:0050589 inflammatory bowel disease disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum,colon: PMID:23642997|REF_RGD_ID:11079180 9004778 Vegfa vascular endothelial growth factor A gene DOID:0050700 cardiomyopathy ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:10229225|REF_RGD_ID:1580578 9004778 Vegfa vascular endothelial growth factor A gene DOID:0050852 limb ischemia treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:23562340|REF_RGD_ID:7421600 9004778 Vegfa vascular endothelial growth factor A gene DOID:0050866 oral squamous cell carcinoma ISO RGD:731072 D RGD:9068941 20220811 RGD protein:increased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 9004778 Vegfa vascular endothelial growth factor A gene DOID:0060071 pre-malignant neoplasm ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12399228 9004778 Vegfa vascular endothelial growth factor A gene DOID:0060074 ductal carcinoma in situ ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19623180|REF_RGD_ID:2315458 9004778 Vegfa vascular endothelial growth factor A gene DOID:0060108 brain glioma ISO RGD:731072 D RGD:9068941 20220310 RGD protein:increased expression:brain (human) PMID:33900414|REF_RGD_ID:151660356 9004778 Vegfa vascular endothelial growth factor A gene DOID:0060181 ischemic colitis ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15770733|REF_RGD_ID:1580570 9004778 Vegfa vascular endothelial growth factor A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:731073 D RGD:9068941 20220825 MouseDO OMIM:105400 9004778 Vegfa vascular endothelial growth factor A gene DOID:0060224 atrial fibrillation ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:20631454|REF_RGD_ID:8551825 9004778 Vegfa vascular endothelial growth factor A gene DOID:0060496 respiratory allergy ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30608172 9004778 Vegfa vascular endothelial growth factor A gene DOID:0060643 primary sclerosing cholangitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 9004778 Vegfa vascular endothelial growth factor A gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16388189|REF_RGD_ID:1580567 9004778 Vegfa vascular endothelial growth factor A gene DOID:0080600 COVID-19 severity ISO RGD:731072 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 9004778 Vegfa vascular endothelial growth factor A gene DOID:0081267 graft-versus-host disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:25759146|REF_RGD_ID:11079181 9004778 Vegfa vascular endothelial growth factor A gene DOID:0111252 vestibular schwannomatosis ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19587327|REF_RGD_ID:8547957 9004778 Vegfa vascular endothelial growth factor A gene DOID:0111252 vestibular schwannomatosis ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:20406973|REF_RGD_ID:8547955 9004778 Vegfa vascular endothelial growth factor A gene DOID:0111253 neurofibromatosis 1 ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:dermis PMID:12930297|REF_RGD_ID:8547970 9004778 Vegfa vascular endothelial growth factor A gene DOID:10283 prostate cancer ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19576799|REF_RGD_ID:2315459 9004778 Vegfa vascular endothelial growth factor A gene DOID:10584 retinitis pigmentosa ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:eye: PMID:18326689|REF_RGD_ID:7483592 9004778 Vegfa vascular endothelial growth factor A gene DOID:10591 pre-eclampsia ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16517614|REF_RGD_ID:1580566 9004778 Vegfa vascular endothelial growth factor A gene DOID:10591 pre-eclampsia ISO RGD:731072 D RGD:9068941 20221103 RGD mRNA:decreased expression:chorionic villus (human) PMID:22840297|REF_RGD_ID:155631283 9004778 Vegfa vascular endothelial growth factor A gene DOID:10652 Alzheimer's disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15732116 9004778 Vegfa vascular endothelial growth factor A gene DOID:10652 Alzheimer's disease ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15732116|REF_RGD_ID:1580571 9004778 Vegfa vascular endothelial growth factor A gene DOID:10754 otitis media ISO RGD:731073 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:middle ear,inner ear: PMID:21271590|REF_RGD_ID:8547980 9004778 Vegfa vascular endothelial growth factor A gene DOID:10754 otitis media ISO RGD:731073 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear: PMID:22104377|REF_RGD_ID:8547975 9004778 Vegfa vascular endothelial growth factor A gene DOID:10762 portal hypertension ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:mesentary PMID:26627607|REF_RGD_ID:11528851 9004778 Vegfa vascular endothelial growth factor A gene DOID:10762 portal hypertension ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18416461 9004778 Vegfa vascular endothelial growth factor A gene DOID:10763 hypertension ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16164572|REF_RGD_ID:1580573 9004778 Vegfa vascular endothelial growth factor A gene DOID:10763 hypertension treatment ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms PMID:20630084|REF_RGD_ID:8552374 9004778 Vegfa vascular endothelial growth factor A gene DOID:10808 gastric ulcer ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11353854 9004778 Vegfa vascular endothelial growth factor A gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP: :rs3025000(human) PMID:23149126|REF_RGD_ID:7483627 9004778 Vegfa vascular endothelial growth factor A gene DOID:10873 Kuhnt-Junius degeneration treatment ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP: :rs943080(human) PMID:23745581|REF_RGD_ID:7483607 9004778 Vegfa vascular endothelial growth factor A gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:15178644|REF_RGD_ID:1580558 9004778 Vegfa vascular endothelial growth factor A gene DOID:10941 intracranial aneurysm ISO RGD:731072 D RGD:9068941 20230202 RGD mRNA,protein:increased expression:artery PMID:32602008|REF_RGD_ID:155882593 9004778 Vegfa vascular endothelial growth factor A gene DOID:10964 cholesteatoma of middle ear ISO RGD:731072 D RGD:9068941 20200609 RGD protein:altered expression:mucosa of the middle ear: PMID:11078065|REF_RGD_ID:8547968 9004778 Vegfa vascular endothelial growth factor A gene DOID:11054 urinary bladder cancer ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression:bladder PMID:22895562|REF_RGD_ID:13605607 9004778 Vegfa vascular endothelial growth factor A gene DOID:11198 DiGeorge syndrome ISO RGD:731073 D RGD:9068941 20220825 MouseDO OMIM:188400 9004778 Vegfa vascular endothelial growth factor A gene DOID:11382 corneal neovascularization ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9301478 9004778 Vegfa vascular endothelial growth factor A gene DOID:11382 corneal neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:22467572|REF_RGD_ID:7483619 9004778 Vegfa vascular endothelial growth factor A gene DOID:11382 corneal neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD associated with Herpes Simplex;protein:increased expression:cornea: PMID:21325621|REF_RGD_ID:8547993 9004778 Vegfa vascular endothelial growth factor A gene DOID:11396 pulmonary edema ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:16793871|REF_RGD_ID:1580547 9004778 Vegfa vascular endothelial growth factor A gene DOID:114 heart disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 9004778 Vegfa vascular endothelial growth factor A gene DOID:11612 polycystic ovary syndrome ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15653207|REF_RGD_ID:8549491 9004778 Vegfa vascular endothelial growth factor A gene DOID:11713 diabetic angiopathy ISO RGD:731072 D RGD:7240710 20190410 OMIM 9004778 Vegfa vascular endothelial growth factor A gene DOID:11713 diabetic angiopathy ISO RGD:731072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1 PMID:11978667 9004778 Vegfa vascular endothelial growth factor A gene DOID:12236 primary biliary cholangitis ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 9004778 Vegfa vascular endothelial growth factor A gene DOID:12236 primary biliary cholangitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 9004778 Vegfa vascular endothelial growth factor A gene DOID:12361 Graves' disease ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNPs: :-2578A>C,-460T>C,405G>C(human) PMID:22771446|REF_RGD_ID:7483621 9004778 Vegfa vascular endothelial growth factor A gene DOID:12510 retinal ischemia treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:23537149|REF_RGD_ID:10755711 9004778 Vegfa vascular endothelial growth factor A gene DOID:12689 acoustic neuroma ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:14660915|REF_RGD_ID:8547959 9004778 Vegfa vascular endothelial growth factor A gene DOID:12716 newborn respiratory distress syndrome ISO RGD:731073 D RGD:9068941 20220825 MouseDO OMIM:267450 9004778 Vegfa vascular endothelial growth factor A gene DOID:13025 retinopathy of prematurity ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:subretinal fluid: PMID:10751359|REF_RGD_ID:8548546 9004778 Vegfa vascular endothelial growth factor A gene DOID:13207 proliferative diabetic retinopathy ISO RGD:619991 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:retina PMID:16054135|REF_RGD_ID:2312348 9004778 Vegfa vascular endothelial growth factor A gene DOID:13241 Behcet's disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15257411|REF_RGD_ID:8655578 9004778 Vegfa vascular endothelial growth factor A gene DOID:13378 Kawasaki disease ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15470196|REF_RGD_ID:1580572 9004778 Vegfa vascular endothelial growth factor A gene DOID:13812 adhesions of uterus ISO RGD:619991 D RGD:9068941 20210514 RGD mRNA, protein:increased expression:endometrium PMID:31596310|REF_RGD_ID:126925216 9004778 Vegfa vascular endothelial growth factor A gene DOID:14256 adult-onset Still's disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 9004778 Vegfa vascular endothelial growth factor A gene DOID:1432 blindness ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:23093773|REF_RGD_ID:11075234 9004778 Vegfa vascular endothelial growth factor A gene DOID:14566 disease of cellular proliferation ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18494554 9004778 Vegfa vascular endothelial growth factor A gene DOID:1520 colon carcinoma treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:18657413|REF_RGD_ID:15003195 9004778 Vegfa vascular endothelial growth factor A gene DOID:1584 acute chest syndrome susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human) PMID:22925497|REF_RGD_ID:11075235 9004778 Vegfa vascular endothelial growth factor A gene DOID:1584 acute chest syndrome susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human) PMID:25130874|REF_RGD_ID:11075233 9004778 Vegfa vascular endothelial growth factor A gene DOID:1682 congenital heart disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 9004778 Vegfa vascular endothelial growth factor A gene DOID:1682 congenital heart disease ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16636650|REF_RGD_ID:1580565 9004778 Vegfa vascular endothelial growth factor A gene DOID:1686 glaucoma ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:23416159|REF_RGD_ID:7421614 9004778 Vegfa vascular endothelial growth factor A gene DOID:1686 glaucoma ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:18728749|REF_RGD_ID:7421595 9004778 Vegfa vascular endothelial growth factor A gene DOID:1687 neovascular glaucoma ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball: PMID:9852717|REF_RGD_ID:8547996 9004778 Vegfa vascular endothelial growth factor A gene DOID:1724 duodenal ulcer ISO RGD:619991 D RGD:9068941 20200609 RGD associated with Candidiasis;protein:decreased expression:Duodenum: PMID:18622701|REF_RGD_ID:7483560 9004778 Vegfa vascular endothelial growth factor A gene DOID:1727 retinal vein occlusion ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:21487926|REF_RGD_ID:5490120 9004778 Vegfa vascular endothelial growth factor A gene DOID:1727 retinal vein occlusion ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16680105 9004778 Vegfa vascular endothelial growth factor A gene DOID:1749 squamous cell carcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956251|PMID:26432044 9004778 Vegfa vascular endothelial growth factor A gene DOID:1824 status epilepticus ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 9004778 Vegfa vascular endothelial growth factor A gene DOID:1875 impotence ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12002441 9004778 Vegfa vascular endothelial growth factor A gene DOID:1909 melanoma disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:12946796|REF_RGD_ID:7421569 9004778 Vegfa vascular endothelial growth factor A gene DOID:1936 atherosclerosis ISO RGD:731072 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atherosclerosis, susceptibility to PMID:15732116|PMID:15937083|PMID:18413368 9004778 Vegfa vascular endothelial growth factor A gene DOID:1936 atherosclerosis ameliorates ISO RGD:731073 D RGD:9068941 20230330 RGD PMID:31757932|REF_RGD_ID:242905202 9004778 Vegfa vascular endothelial growth factor A gene DOID:2048 autoimmune hepatitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 9004778 Vegfa vascular endothelial growth factor A gene DOID:219 colon cancer ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:21268133|REF_RGD_ID:5135051 9004778 Vegfa vascular endothelial growth factor A gene DOID:2256 osteochondrodysplasia ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24235232 9004778 Vegfa vascular endothelial growth factor A gene DOID:2559 opiate dependence ISO RGD:731072 D RGD:9068941 20240217 RGD DNA:hypermethylation:exon:blood PMID:29224006|REF_RGD_ID:401976280 9004778 Vegfa vascular endothelial growth factor A gene DOID:2596 larynx cancer treatment ISO RGD:731072 D RGD:9068941 20210514 RGD PMID:20967863|REF_RGD_ID:126925200 9004778 Vegfa vascular endothelial growth factor A gene DOID:2738 pseudoxanthoma elasticum susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:haplotype: : PMID:19483196|REF_RGD_ID:7483615 9004778 Vegfa vascular endothelial growth factor A gene DOID:2773 contact dermatitis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9004778 Vegfa vascular endothelial growth factor A gene DOID:2841 asthma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907124|PMID:15201500|PMID:19263519 9004778 Vegfa vascular endothelial growth factor A gene DOID:2841 asthma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19178538|REF_RGD_ID:6892723 9004778 Vegfa vascular endothelial growth factor A gene DOID:289 endometriosis ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:increased expression:endometrium PMID:20056215|REF_RGD_ID:5135061 9004778 Vegfa vascular endothelial growth factor A gene DOID:2921 glomerulonephritis treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15195119|REF_RGD_ID:7421594 9004778 Vegfa vascular endothelial growth factor A gene DOID:299 adenocarcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 9004778 Vegfa vascular endothelial growth factor A gene DOID:2999 granulosa cell tumor ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19524286|REF_RGD_ID:2315463 9004778 Vegfa vascular endothelial growth factor A gene DOID:3021 acute kidney failure ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20943766|PMID:22808199 9004778 Vegfa vascular endothelial growth factor A gene DOID:3042 allergic contact dermatitis ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:protein:skin: PMID:7876550|REF_RGD_ID:7421586 9004778 Vegfa vascular endothelial growth factor A gene DOID:3042 allergic contact dermatitis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:protein:skin: PMID:7876550|REF_RGD_ID:7421586 9004778 Vegfa vascular endothelial growth factor A gene DOID:3068 glioblastoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16356833 9004778 Vegfa vascular endothelial growth factor A gene DOID:3071 gliosarcoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16533777 9004778 Vegfa vascular endothelial growth factor A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15681497|REF_RGD_ID:5684420 9004778 Vegfa vascular endothelial growth factor A gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:20705587|REF_RGD_ID:10755705 9004778 Vegfa vascular endothelial growth factor A gene DOID:3087 gingivitis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:decreased expression:gingiva: PMID:18206400|REF_RGD_ID:7421591 9004778 Vegfa vascular endothelial growth factor A gene DOID:3179 inverted papilloma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:inferior nasal concha: PMID:12541477|REF_RGD_ID:8551779 9004778 Vegfa vascular endothelial growth factor A gene DOID:3247 rhabdomyosarcoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16116481 9004778 Vegfa vascular endothelial growth factor A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16410746|REF_RGD_ID:1580568 9004778 Vegfa vascular endothelial growth factor A gene DOID:3328 temporal lobe epilepsy ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17533168 9004778 Vegfa vascular endothelial growth factor A gene DOID:3347 osteosarcoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20158913 9004778 Vegfa vascular endothelial growth factor A gene DOID:3393 coronary artery disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14668888|PMID:15937083 9004778 Vegfa vascular endothelial growth factor A gene DOID:3393 coronary artery disease ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15754021|REF_RGD_ID:1580569 9004778 Vegfa vascular endothelial growth factor A gene DOID:3512 neurofibrosarcoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:peripheral nerve PMID:10554031|REF_RGD_ID:8552377 9004778 Vegfa vascular endothelial growth factor A gene DOID:3525 middle cerebral artery infarction ISO RGD:619991 D RGD:9068941 20230504 RGD mRNA,protein:increased expression:cerebral cortex (rat) PMID:27035554|REF_RGD_ID:329337377 9004778 Vegfa vascular endothelial growth factor A gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619991 D RGD:9068941 20230610 RGD PMID:29497380|PMID:30531687|REF_RGD_ID:329849008|REF_RGD_ID:40925919 9004778 Vegfa vascular endothelial growth factor A gene DOID:3587 pancreatic ductal carcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17481528 9004778 Vegfa vascular endothelial growth factor A gene DOID:3827 congenital diaphragmatic hernia ISO RGD:619991 D RGD:9068941 20200609 RGD protein:decreased expression:lung: PMID:15879288|REF_RGD_ID:7421593 9004778 Vegfa vascular endothelial growth factor A gene DOID:3908 lung non-small cell carcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15956251 9004778 Vegfa vascular endothelial growth factor A gene DOID:3908 lung non-small cell carcinoma ISO RGD:731072 D RGD:9068941 20210514 RGD protein:increased expression:plasma PMID:21481963|REF_RGD_ID:126925199 9004778 Vegfa vascular endothelial growth factor A gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20220428 RGD protein:inctreased expression:lung (human) PMID:22977534|REF_RGD_ID:152023747 9004778 Vegfa vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:skin: PMID:21636803|REF_RGD_ID:7421579 9004778 Vegfa vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow: PMID:22271757|REF_RGD_ID:8551843 9004778 Vegfa vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 9004778 Vegfa vascular endothelial growth factor A gene DOID:418 systemic scleroderma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16426919|REF_RGD_ID:5684416 9004778 Vegfa vascular endothelial growth factor A gene DOID:4440 seminoma disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:19288744|REF_RGD_ID:2315467 9004778 Vegfa vascular endothelial growth factor A gene DOID:4448 macular degeneration ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15788408 9004778 Vegfa vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20577866 9004778 Vegfa vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;protein:increased expression:aqueous humor PMID:17505145|REF_RGD_ID:8655594 9004778 Vegfa vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:9068941 20200609 RGD associated with retinal vein occlusion;protein:increased expression:vitreous humor PMID:23411880|REF_RGD_ID:8549772 9004778 Vegfa vascular endothelial growth factor A gene DOID:4449 macular retinal edema ISO RGD:731072 D RGD:9068941 20221014 RGD associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) PMID:35799735|REF_RGD_ID:155582223 9004778 Vegfa vascular endothelial growth factor A gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19755989|REF_RGD_ID:2315455 9004778 Vegfa vascular endothelial growth factor A gene DOID:4467 clear cell renal cell carcinoma ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25239121 9004778 Vegfa vascular endothelial growth factor A gene DOID:4483 rhinitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:19178538|REF_RGD_ID:6892723 9004778 Vegfa vascular endothelial growth factor A gene DOID:4724 brain edema ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:15879344|REF_RGD_ID:1580557 9004778 Vegfa vascular endothelial growth factor A gene DOID:4724 brain edema ISO RGD:619991 D RGD:9068941 20200609 RGD associated with Anoxia PMID:21560328|REF_RGD_ID:5148033 9004778 Vegfa vascular endothelial growth factor A gene DOID:4947 cholangiocarcinoma ISO RGD:731072 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:18550579 9004778 Vegfa vascular endothelial growth factor A gene DOID:5082 liver cirrhosis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11981751 9004778 Vegfa vascular endothelial growth factor A gene DOID:5082 liver cirrhosis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic; protein:increased expression:liver PMID:26627607|REF_RGD_ID:11528851 9004778 Vegfa vascular endothelial growth factor A gene DOID:5082 liver cirrhosis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:platelet: PMID:18544126|REF_RGD_ID:15003200 9004778 Vegfa vascular endothelial growth factor A gene DOID:5176 renal Wilms' tumor ISO RGD:731072 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 9004778 Vegfa vascular endothelial growth factor A gene DOID:5425 ovarian hyperstimulation syndrome treatment ISO RGD:619991 D RGD:9068941 20210514 RGD PMID:25151950|REF_RGD_ID:126925217 9004778 Vegfa vascular endothelial growth factor A gene DOID:5679 retinal disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 9004778 Vegfa vascular endothelial growth factor A gene DOID:576 proteinuria ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22808199 9004778 Vegfa vascular endothelial growth factor A gene DOID:5844 myocardial infarction ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum,platelet: PMID:10652191|REF_RGD_ID:7483604 9004778 Vegfa vascular endothelial growth factor A gene DOID:5844 myocardial infarction treatment ISO RGD:619991 D RGD:9068941 20210514 RGD PMID:25936512|REF_RGD_ID:126925214 9004778 Vegfa vascular endothelial growth factor A gene DOID:6000 congestive heart failure ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15732037|PMID:15880336 9004778 Vegfa vascular endothelial growth factor A gene DOID:6039 uveal melanoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:iris, ciliary body, vitreous body; PMID:11914216|REF_RGD_ID:7483591 9004778 Vegfa vascular endothelial growth factor A gene DOID:630 genetic disease ISO RGD:731072 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004778 Vegfa vascular endothelial growth factor A gene DOID:6432 pulmonary hypertension ISO RGD:731073 D RGD:9068941 20230713 RGD associated with Hypoxia;protein:increased expression:pulmonary artery,smooth muscle tissue (mouse) PMID:30172777|REF_RGD_ID:329955443 9004778 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma ISO RGD:731072 D RGD:9068941 20200609 RGD associated with liver cirrhosis; protein:increased expression:platelet, liver: PMID:18544126|REF_RGD_ID:15003200 9004778 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:27338800|REF_RGD_ID:15003194 9004778 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:28147320|REF_RGD_ID:15003196 9004778 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16835748|REF_RGD_ID:15014783 9004778 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:731072 D RGD:9068941 20210507 RGD DNA:SNP: :2578C>A (human) PMID:24445728|REF_RGD_ID:126848814 9004778 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:619991 D RGD:9068941 20220520 RGD PMID:25999787|REF_RGD_ID:152177911 9004778 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:26930285|REF_RGD_ID:11527070 9004778 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-2578C>A (rs699947)(human) PMID:28147320|REF_RGD_ID:15003196 9004778 Vegfa vascular endothelial growth factor A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:731073 D RGD:9068941 20200609 RGD associated with liver cirrhosis; PMID:18392108|REF_RGD_ID:15036790 9004778 Vegfa vascular endothelial growth factor A gene DOID:7148 rheumatoid arthritis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16368150 9004778 Vegfa vascular endothelial growth factor A gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 9004778 Vegfa vascular endothelial growth factor A gene DOID:7736 retinal telangiectasia severity ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:eye: PMID:23221067|REF_RGD_ID:8549759 9004778 Vegfa vascular endothelial growth factor A gene DOID:841 extrinsic allergic alveolitis ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15764076|REF_RGD_ID:5684419 9004778 Vegfa vascular endothelial growth factor A gene DOID:850 lung disease ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618901 9004778 Vegfa vascular endothelial growth factor A gene DOID:8505 dermatitis herpetiformis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:7738351|REF_RGD_ID:7421578 9004778 Vegfa vascular endothelial growth factor A gene DOID:8506 bullous pemphigoid ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:7738351|REF_RGD_ID:7421578 9004778 Vegfa vascular endothelial growth factor A gene DOID:8544 chronic fatigue syndrome ISO RGD:731072 D RGD:9068941 20200609 RGD protein:decreased expression:plasma: PMID:26615570|REF_RGD_ID:11538286 9004778 Vegfa vascular endothelial growth factor A gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :(rs6999470),(rs833061)(human) PMID:19141860|REF_RGD_ID:13432135 9004778 Vegfa vascular endothelial growth factor A gene DOID:8577 ulcerative colitis ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:colon, plasma PMID:19013462|REF_RGD_ID:5684406 9004778 Vegfa vascular endothelial growth factor A gene DOID:869 cholesteatoma ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:external acoustic meatus: PMID:15267172|REF_RGD_ID:8547969 9004778 Vegfa vascular endothelial growth factor A gene DOID:8692 myeloid leukemia ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21535412 9004778 Vegfa vascular endothelial growth factor A gene DOID:8717 decubitus ulcer ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:23740668|REF_RGD_ID:8655548 9004778 Vegfa vascular endothelial growth factor A gene DOID:8717 decubitus ulcer ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:skin: PMID:12692851|REF_RGD_ID:8551845 9004778 Vegfa vascular endothelial growth factor A gene DOID:8778 Crohn's disease ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:colon, plasma PMID:19013462|REF_RGD_ID:5684406 9004778 Vegfa vascular endothelial growth factor A gene DOID:8893 psoriasis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16385345 9004778 Vegfa vascular endothelial growth factor A gene DOID:8893 psoriasis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:8064230|REF_RGD_ID:7421592 9004778 Vegfa vascular endothelial growth factor A gene DOID:8893 psoriasis disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20980160|REF_RGD_ID:8552359 9004778 Vegfa vascular endothelial growth factor A gene DOID:8893 psoriasis onset ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:polymorphism: :405C>G(human) PMID:14962110|REF_RGD_ID:8552645 9004778 Vegfa vascular endothelial growth factor A gene DOID:8893 psoriasis treatment ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:19995970|REF_RGD_ID:8549646 9004778 Vegfa vascular endothelial growth factor A gene DOID:8927 learning disability ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20801723 9004778 Vegfa vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:619991 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:retina PMID:31759996|REF_RGD_ID:41410819 9004778 Vegfa vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11978667|PMID:15788408|PMID:20577866 9004778 Vegfa vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:16636650|PMID:17513698|REF_RGD_ID:1580565|REF_RGD_ID:2301992 9004778 Vegfa vascular endothelial growth factor A gene DOID:8947 diabetic retinopathy ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball: PMID:9852717|REF_RGD_ID:8547996 9004778 Vegfa vascular endothelial growth factor A gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19723043|REF_RGD_ID:2315456 9004778 Vegfa vascular endothelial growth factor A gene DOID:900 hepatopulmonary syndrome ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:27029414|REF_RGD_ID:15003201 9004778 Vegfa vascular endothelial growth factor A gene DOID:900 hepatopulmonary syndrome treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:19109954|REF_RGD_ID:15036789 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000039 Spinal Cord Injuries ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21092735|REF_RGD_ID:5148013 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000039 Spinal Cord Injuries ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21092735 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000081 Lymphatic Metastasis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:19783962|REF_RGD_ID:2315454 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000081 Lymphatic Metastasis ISO RGD:731073 D RGD:9068941 20200609 RGD associated with Breast neoplasms; PMID:17597103|REF_RGD_ID:7421574 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000099 Experimental Colitis ISO RGD:731073 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19013462|REF_RGD_ID:5684406 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:619991 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney medulla (rat) PMID:32416216|REF_RGD_ID:401793731 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22808199 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000528 Coronary Disease ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:16139132|REF_RGD_ID:2313728 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000808 Hypercholesterolemia ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast PMID:15491965|REF_RGD_ID:8655598 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000888 Pregnancy in Diabetics ISO RGD:619991 D RGD:9068941 20200609 RGD protein:decreased expression:plasma, placenta,embryo: PMID:19048427|REF_RGD_ID:7483562 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000965 Neoplasm Metastasis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15659795|PMID:18930813|PMID:20158913 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000965 Neoplasm Metastasis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell PMID:19064974|REF_RGD_ID:2315468 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000998 Brain Injuries ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:12230324|REF_RGD_ID:1580574 9004778 Vegfa vascular endothelial growth factor A gene DOID:9000998 Brain Injuries ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18065154 9004778 Vegfa vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:choroidal tissue,retina: PMID:19013152|REF_RGD_ID:8548599 9004778 Vegfa vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16680105 9004778 Vegfa vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:16723717|REF_RGD_ID:8548459 9004778 Vegfa vascular endothelial growth factor A gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:20237252|REF_RGD_ID:7483614 9004778 Vegfa vascular endothelial growth factor A gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:24959006|REF_RGD_ID:15014784 9004778 Vegfa vascular endothelial growth factor A gene DOID:9001472 Nasal Polyps ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:Turbinates: PMID:12761968|REF_RGD_ID:7394830 9004778 Vegfa vascular endothelial growth factor A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:18416461|PMID:18458672 9004778 Vegfa vascular endothelial growth factor A gene DOID:9001600 Wounds and Injuries treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:23603001|REF_RGD_ID:8655580 9004778 Vegfa vascular endothelial growth factor A gene DOID:9001725 Retina Reperfusion Injury ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:17591953|REF_RGD_ID:7421609 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002159 Liver Reperfusion Injury ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:26451003|REF_RGD_ID:15036791 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002165 Diabetic Nephropathies ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18630688 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002165 Diabetic Nephropathies ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:urine PMID:15610240|REF_RGD_ID:2313731 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002170 Experimental Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20376344|PMID:20932960|PMID:28574600 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002221 Hyperplasia ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Breast Diseases;protein:increased expression:breast PMID:19623180|REF_RGD_ID:2315458 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002304 Prostatic Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12893367|PMID:16606632|PMID:16908180|PMID:20052738 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002457 Experimental Arthritis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26221077|PMID:9598899 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002539 Glomus Tympanicum Tumor ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:20030694|REF_RGD_ID:8547978 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002661 Diabetes Complications ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26073000 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17888890 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:polymorphisms: :405G>C, -460C>T (human) PMID:19509553|REF_RGD_ID:2315464 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:12387457|REF_RGD_ID:634258 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:spinal cord: PMID:17083617|REF_RGD_ID:7421596 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA:decreased expression:Cerebrospinal Fluid: PMID:17083617|REF_RGD_ID:7421596 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:15303088|REF_RGD_ID:7483624 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002909 Oxygen-Induced Retinopathy ameliorates ISO RGD:731073 D RGD:9068941 20230525 RGD PMID:35445044|REF_RGD_ID:329812014 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002928 Colonic Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18987561 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002928 Colonic Neoplasms ISO RGD:731073 D RGD:9068941 20200609 RGD associated with Colitis PMID:21098094|REF_RGD_ID:5684533 9004778 Vegfa vascular endothelial growth factor A gene DOID:9002955 Nerve Degeneration treatment ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:26201024|REF_RGD_ID:11079183 9004778 Vegfa vascular endothelial growth factor A gene DOID:9003204 Neovascularization, Pathologic ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12399228|PMID:17533168 9004778 Vegfa vascular endothelial growth factor A gene DOID:9003219 Invasive Pulmonary Aspergillosis treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:23303813|REF_RGD_ID:8655596 9004778 Vegfa vascular endothelial growth factor A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 9004778 Vegfa vascular endothelial growth factor A gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:19723043|REF_RGD_ID:2315456 9004778 Vegfa vascular endothelial growth factor A gene DOID:9003373 Uterine Cervical Neoplasms disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19783962|REF_RGD_ID:2315454 9004778 Vegfa vascular endothelial growth factor A gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23694759 9004778 Vegfa vascular endothelial growth factor A gene DOID:9003936 Cardiomegaly ISO RGDID:2074 D RGD:9068941 20230810 RGD PMID:12665660|REF_RGD_ID:401784499 9004778 Vegfa vascular endothelial growth factor A gene DOID:9004210 Tympanic Membrane Perforation ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:increased expression:tympanic membrane: PMID:24012216|REF_RGD_ID:8547981 9004778 Vegfa vascular endothelial growth factor A gene DOID:9004210 Tympanic Membrane Perforation disease_progression ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:20015768|REF_RGD_ID:8655595 9004778 Vegfa vascular endothelial growth factor A gene DOID:9004464 Skin Neoplasms ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:15150105|REF_RGD_ID:7421589 9004778 Vegfa vascular endothelial growth factor A gene DOID:9004610 Acute Lung Injury ISO RGD:619991 D RGD:9068941 20200609 RGD associated with Endotoxemia;mRNA, protein:altered expression:lung, plasma PMID:21528367|REF_RGD_ID:5684427 9004778 Vegfa vascular endothelial growth factor A gene DOID:9004643 Urologic Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23009795 9004778 Vegfa vascular endothelial growth factor A gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20158913 9004778 Vegfa vascular endothelial growth factor A gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:731072 D RGD:9068941 20200609 RGD human protein in a mouse model PMID:21890879|REF_RGD_ID:6771361 9004778 Vegfa vascular endothelial growth factor A gene DOID:9005372 Inflammation ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 9004778 Vegfa vascular endothelial growth factor A gene DOID:9005605 Arteriovenous Fistula ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:brain cortex, brain dura mater: PMID:24626343|REF_RGD_ID:8551823 9004778 Vegfa vascular endothelial growth factor A gene DOID:9005605 Arteriovenous Fistula ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:10541235|REF_RGD_ID:8655590 9004778 Vegfa vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:19934008|REF_RGD_ID:7421582 9004778 Vegfa vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619991 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart PMID:16741021|REF_RGD_ID:2313724 9004778 Vegfa vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22191573 9004778 Vegfa vascular endothelial growth factor A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731073 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle PMID:16816123|REF_RGD_ID:2313725 9004778 Vegfa vascular endothelial growth factor A gene DOID:9005858 Periodontal Atrophy ISO RGD:619991 D RGD:9068941 20200609 RGD protein:decreased expression:maxilla: PMID:22716278|REF_RGD_ID:7421608 9004778 Vegfa vascular endothelial growth factor A gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15289890|REF_RGD_ID:7488946 9004778 Vegfa vascular endothelial growth factor A gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:619991 D RGD:9068941 20230803 RGD associated with Pulmonary arterial hypertension PMID:26959484|REF_RGD_ID:329969898 9004778 Vegfa vascular endothelial growth factor A gene DOID:9006169 Head and Neck Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16499871 9004778 Vegfa vascular endothelial growth factor A gene DOID:9006618 Liver Metastasis ISO RGD:731072 D RGD:9068941 20200609 RGD associated with colorectal carcinoma;mRNA,protein:increased expression:liver: PMID:22156924|REF_RGD_ID:15014782 9004778 Vegfa vascular endothelial growth factor A gene DOID:9006646 Metabolic Syndrome ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:22206010|REF_RGD_ID:7483588 9004778 Vegfa vascular endothelial growth factor A gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731072 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068094 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007 sudden infant death syndrome ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:12563064|REF_RGD_ID:634255 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007096 Stroke ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:11585245|REF_RGD_ID:7421577 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007102 Myocardial Ischemia ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14503966|PMID:14583313|PMID:15347709|PMID:16214533|PMID:9860779 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007174 Ventricular Remodeling ISO RGD:619991 D RGD:9068941 20230826 RGD associated with diesel exhaust particulates exposure; protein:decreased expression:heart left ventricle (rat) PMID:23887904|REF_RGD_ID:401794424 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007334 Small-For-Size Syndrome treatment ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:22151301|REF_RGD_ID:10053671 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:17784864|REF_RGD_ID:15003197 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007502 Brain Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731072 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:30090327 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007651 Chronic Bronchitis ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19263519 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007715 Endometrial Neoplasms ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17380299 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:619991 D RGD:9068941 20200609 RGD PMID:12900522|REF_RGD_ID:1580564 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:619991 D RGD:9068941 20200609 RGD associated with hypoxia;mRNA:increased expression:retina: PMID:8859080|REF_RGD_ID:7483620 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD PMID:23324288|REF_RGD_ID:8548102 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007748 Retinal Neovascularization ISO RGD:731073 D RGD:9068941 20200609 RGD associated with hypoxia;mRNA,protein:increased expression:retina: PMID:7846076|REF_RGD_ID:8547994 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22050707 9004778 Vegfa vascular endothelial growth factor A gene DOID:9007874 Liver Failure ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16757304 9004778 Vegfa vascular endothelial growth factor A gene DOID:9008023 Memory Disorders ISO RGD:731072 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20801723 9004778 Vegfa vascular endothelial growth factor A gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal biopsies,nasal lavage fluid: PMID:12633568|REF_RGD_ID:7483595 9004778 Vegfa vascular endothelial growth factor A gene DOID:9008217 Hemorrhage ISO RGD:731072 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068094 9004778 Vegfa vascular endothelial growth factor A gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :rs833069(human) PMID:22307775|REF_RGD_ID:7483605 9004778 Vegfa vascular endothelial growth factor A gene DOID:9008660 Infantile Capillary Hemangioma disease_progression ISO RGD:731072 D RGD:9068941 20221117 RGD PMID:26957058|REF_RGD_ID:155663370 9004778 Vegfa vascular endothelial growth factor A gene DOID:9008821 Otitis Media with Effusion ISO RGD:619991 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear: PMID:22907120|REF_RGD_ID:8547964 9004778 Vegfa vascular endothelial growth factor A gene DOID:9008939 Breast Neoplasms ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:19567820|REF_RGD_ID:2315461 9004778 Vegfa vascular endothelial growth factor A gene DOID:9008939 Breast Neoplasms ISO RGD:731072 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19722158|REF_RGD_ID:2315457 9004778 Vegfa vascular endothelial growth factor A gene DOID:905 Zellweger syndrome ISO RGD:731072 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9004778 Vegfa vascular endothelial growth factor A gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :(rs3025039),(rs699947),(rs833061)(human) PMID:17983459|REF_RGD_ID:13432134 9004778 Vegfa vascular endothelial growth factor A gene DOID:9256 colorectal cancer ISO RGD:731072 D RGD:9068941 20220609 RGD mRNA:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 9004778 Vegfa vascular endothelial growth factor A gene DOID:9256 colorectal cancer ameliorates ISO RGD:731072 D RGD:9068941 20220421 RGD human cells in mouse model PMID:30789971|REF_RGD_ID:151893289 9004778 Vegfa vascular endothelial growth factor A gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20210514 RGD PMID:16480593|REF_RGD_ID:126925191 9004778 Vegfa vascular endothelial growth factor A gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:731072 D RGD:9068941 20220811 RGD protein:increased expression:nasopharynx (human) PMID:23631129|REF_RGD_ID:153305949 9004778 Vegfa vascular endothelial growth factor A gene DOID:9261 nasopharynx carcinoma severity ISO RGD:731072 D RGD:9068941 20210716 RGD protein:increased expression:mucosa of nasopharynx (human) PMID:30123088|REF_RGD_ID:149735327 9004778 Vegfa vascular endothelial growth factor A gene DOID:9352 type 2 diabetes mellitus ISO RGD:731072 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ventricle myocardium PMID:16139132|REF_RGD_ID:2313728 9004778 Vegfa vascular endothelial growth factor A gene DOID:9538 multiple myeloma susceptibility ISO RGD:731072 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) PMID:24687381|REF_RGD_ID:11079182 9004778 Vegfa vascular endothelial growth factor A gene DOID:9743 diabetic neuropathy treatment ISO RGD:731072 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:26201024|REF_RGD_ID:11079183 9004778 Vegfa vascular endothelial growth factor A gene DOID:9810 polyarteritis nodosa ISO RGD:731072 D RGD:9068941 20200609 RGD PMID:15965421|REF_RGD_ID:8655581 9004802 Nrbp2 nuclear receptor binding protein 2 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1351329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9004802 Nrbp2 nuclear receptor binding protein 2 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1351329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9004802 Nrbp2 nuclear receptor binding protein 2 gene DOID:4621 holoprosencephaly ISO RGD:1351329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 9004802 Nrbp2 nuclear receptor binding protein 2 gene DOID:630 genetic disease ISO RGD:1351329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004850 Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:0111016 cone-rod dystrophy 13 ISO RGD:1348378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:28492532 9004850 Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1348378 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 9004850 Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:630 genetic disease ISO RGD:1348378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004850 Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:9002884 Emphysema ISO RGD:1348378 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33660100 9004850 Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348378 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9004850 Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit gene DOID:9538 multiple myeloma ISO RGD:1348378 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 9004868 Tff3 trefoil factor 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:3847 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17847023|REF_RGD_ID:7349371 9004868 Tff3 trefoil factor 3 gene DOID:0080178 mucositis ISO RGD:736458 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19636011 9004868 Tff3 trefoil factor 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:11407 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 9004868 Tff3 trefoil factor 3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:736458 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 9004868 Tff3 trefoil factor 3 gene DOID:0110266 cataract 9 multiple types ISO RGD:736458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 9004868 Tff3 trefoil factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:736458 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16467092|REF_RGD_ID:2291999 9004868 Tff3 trefoil factor 3 gene DOID:219 colon cancer ISO RGD:3847 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17847023|REF_RGD_ID:7349371 9004868 Tff3 trefoil factor 3 gene DOID:3021 acute kidney failure ISO RGD:736458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23052191 9004868 Tff3 trefoil factor 3 gene DOID:557 kidney disease ISO RGD:736458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24863737 9004868 Tff3 trefoil factor 3 gene DOID:630 genetic disease ISO RGD:736458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004868 Tff3 trefoil factor 3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:736458 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 9004868 Tff3 trefoil factor 3 gene DOID:9000156 Metaplasia ISO RGD:736458 D RGD:9068941 20200609 RGD associated with Duodenal Diseases PMID:12612884|REF_RGD_ID:7364761 9004868 Tff3 trefoil factor 3 gene DOID:9000722 Animal Hepatitis ISO RGD:736458 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559427 9004868 Tff3 trefoil factor 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3847 D RGD:9068941 20200609 RGD PMID:19287349|REF_RGD_ID:7349369 9004868 Tff3 trefoil factor 3 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736458 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:34801851 9004868 Tff3 trefoil factor 3 gene DOID:9008114 Helicobacter Infections disease_progression ISO RGD:11407 D RGD:9068941 20200828 RGD mRNA:altered expression:gastric antrum (mouse) PMID:29085807|REF_RGD_ID:38549349 9004868 Tff3 trefoil factor 3 gene DOID:9263 homocystinuria ISO RGD:736458 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 9004868 Tff3 trefoil factor 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:736458 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9004868 Tff3 trefoil factor 3, intestinal gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:11407 D RGD:9068941 20200609 RGD PMID:31211621|REF_RGD_ID:14747028 9004883 Cblb Cbl proto-oncogene B gene DOID:2377 multiple sclerosis ISO RGD:733798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453840 9004883 Cblb Cbl proto-oncogene B gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:733798 D RGD:9068941 20220107 RGD PMID:29384143|REF_RGD_ID:150540336 9004883 Cblb Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:733798 D RGD:9068941 20210521 RGD DNA:SNPs: :rs2305035, rs9657904 (human) PMID:29707316|REF_RGD_ID:126925239 9004883 Cblb Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma no_association ISO RGD:733798 D RGD:9068941 20210521 RGD DNA:SNPs: :rs3772534 (human) PMID:29707316|REF_RGD_ID:126925239 9004883 Cblb Cbl proto-oncogene B gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:733798 D RGD:9068941 20220107 RGD DNA:SNP,haplotype: :rs2305035(human) PMID:26732495|REF_RGD_ID:150540334 9004883 Cblb Cbl proto-oncogene B gene DOID:5517 stomach carcinoma disease_progression ISO RGD:733798 D RGD:9068941 20220107 RGD PMID:28334634|REF_RGD_ID:150540337 9004883 Cblb Cbl proto-oncogene B gene DOID:5517 stomach carcinoma severity ISO RGD:733798 D RGD:9068941 20220107 RGD PMID:20038312|REF_RGD_ID:150540338 9004883 Cblb Cbl proto-oncogene B gene DOID:630 genetic disease ISO RGD:733798 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004883 Cblb Cbl proto-oncogene B gene DOID:9000081 Lymphatic Metastasis ISO RGD:733798 D RGD:9068941 20220107 RGD associated with stomach carcinoma; PMID:20038312|REF_RGD_ID:150540338 9004883 Cblb Cbl proto-oncogene B gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:620535 D RGD:9068941 20210521 RGD mRNA:increased expression:spinal cord PMID:30021515|REF_RGD_ID:126925240 9004883 Cblb Cbl proto-oncogene B gene DOID:9002457 Experimental Arthritis ISO RGD:620535 D RGD:9068941 20200609 RGD PMID:16984225|REF_RGD_ID:2306289 9004883 Cblb Cbl proto-oncogene B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733798 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453840 9004883 Cblb Cbl proto-oncogene B gene DOID:9003588 Multisystem Autoimmune Disease, Infantile-Onset, 3 ISO RGD:733798 D RGD:7240710 20230712 OMIM 9004883 Cblb Cbl proto-oncogene B gene DOID:9003588 Multisystem Autoimmune Disease, Infantile-Onset, 3 ISO RGD:733798 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoimmune disease, multisystem, infantile-onset, 3 PMID:36006710 9004883 Cblb Cbl proto-oncogene B gene DOID:9007692 Insulin Resistance ISO RGD:733799 D RGD:9068941 20200609 RGD PMID:17601987|REF_RGD_ID:2314038 9004883 Cblb Cbl proto-oncogene B gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:733798 D RGD:9068941 20220107 RGD associated with lung non-small cell carcinoma; DNA:SNP,haplotype: :rs2305035(human) PMID:26732495|REF_RGD_ID:150540334 9004883 Cblb Cbl proto-oncogene B gene DOID:9009121 lung metastasis severity ISO RGD:733798 D RGD:9068941 20220107 RGD associated with stomach carcinoma; PMID:28334634|REF_RGD_ID:150540337 9004883 Cblb Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:620535 D RGD:9068941 20200609 RGD PMID:12118252|REF_RGD_ID:625457 9004883 Cblb Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs3772534 (human) PMID:15629882|REF_RGD_ID:2314040 9004883 Cblb Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple (human) PMID:18201552|REF_RGD_ID:2314037 9004883 Cblb Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs3772534 (human) PMID:17209142|REF_RGD_ID:2314039 9004883 Cblb Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:733798 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:14961073|REF_RGD_ID:2314041 9004883 Cblb Cbl proto-oncogene B gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:620535 D RGD:9068941 20200609 RGD DNA:nonsense mutation (rat) PMID:12118252|REF_RGD_ID:625457 9004906 Angptl8 angiopoietin like 8 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1607022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 9004906 Angptl8 angiopoietin like 8 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1607022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9004906 Angptl8 angiopoietin like 8 gene DOID:0111254 glutaric acidemia I ISO RGD:1607022 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 9004906 Angptl8 angiopoietin like 8 gene DOID:3413 alpha-mannosidosis ISO RGD:1607022 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9004906 Angptl8 angiopoietin like 8 gene DOID:630 genetic disease ISO RGD:1607022 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9004926 Arid1b AT-rich interaction domain 1B gene DOID:0050840 cervical dystonia ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Torticollis PMID:25741868 9004926 Arid1b AT-rich interaction domain 1B gene DOID:0050902 medulloblastoma ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868|PMID:26822237 9004926 Arid1b AT-rich interaction domain 1B gene DOID:0060041 autism spectrum disorder ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 9004926 Arid1b AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:7240710 20180725 OMIM 9004926 Arid1b AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 PMID:10361086|PMID:15057123|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30504930|PMID:31132234|PMID:32860008|PMID:33098347 9004926 Arid1b AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:10361086|PMID:15057123|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25249037|PMID:25326635|PMID:25326637|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30504930|PMID:31132234|PMID:32860008|PMID:33098347|PMID:33768696 9004926 Arid1b AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25217958|PMID:25249037|PMID:25326635|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30349098|PMID:30504930|PMID:31132234|PMID:31164752|PMID:32860008|PMID:33098347|PMID:33619735|PMID:33768696|PMID:34706719|PMID:9536098 9004926 Arid1b AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24033266|PMID:24674232|PMID:25217958|PMID:25249037|PMID:25326635|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30349098|PMID:30504930|PMID:31132234|PMID:31164752|PMID:32860008|PMID:33098347|PMID:33619735|PMID:33768696|PMID:34706719|PMID:9536098 9004926 Arid1b AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24033266|PMID:24674232|PMID:25217958|PMID:25249037|PMID:25326635|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30349098|PMID:30459321|PMID:30504930|PMID:31132234|PMID:31164752|PMID:32860008|PMID:33098347|PMID:33619735|PMID:33768696|PMID:34706719|PMID:9536098 9004926 Arid1b AT-rich interaction domain 1B gene DOID:0070042 Coffin-Siris syndrome 1 ISO RGD:1316702 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related condition | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES PMID:10361086|PMID:15057123|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24033266|PMID:24674232|PMID:25217958|PMID:25249037|PMID:25326635|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30349098|PMID:30459321|PMID:30504930|PMID:31132234|PMID:31164752|PMID:31618753|PMID:32860008|PMID:33098347|PMID:33619735|PMID:33768696|PMID:34706719|PMID:9536098 9004926 Arid1b AT-rich interaction domain 1B gene DOID:0070338 cerebellar hypoplasia ISO RGD:1316702 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868 9004926 Arid1b AT-rich interaction domain 1B gene DOID:10348 blepharophimosis ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:23806086|PMID:24088041|PMID:24674232|PMID:25741868 9004926 Arid1b AT-rich interaction domain 1B gene DOID:10534 stomach cancer disease_progression ISO RGD:1316702 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26637902|REF_RGD_ID:126848744 9004926 Arid1b AT-rich interaction domain 1B gene DOID:1059 intellectual disability ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:28492532 9004926 Arid1b AT-rich interaction domain 1B gene DOID:10763 hypertension treatment ISO RGD:708504 D RGD:9068941 20200609 RGD PMID:17489020|REF_RGD_ID:9587762 9004926 Arid1b AT-rich interaction domain 1B gene DOID:10907 microcephaly ISO RGD:1316702 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9004926 Arid1b AT-rich interaction domain 1B gene DOID:10908 hydrocephalus ISO RGD:1316703 D RGD:9068941 20200609 RGD PMID:28867767|REF_RGD_ID:13439722 9004926 Arid1b AT-rich interaction domain 1B gene DOID:1826 epilepsy ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:15057123|PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:9536098 9004926 Arid1b AT-rich interaction domain 1B gene DOID:1925 Coffin-Siris syndrome ISO RGD:1316702 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 9004926 Arid1b AT-rich interaction domain 1B gene DOID:3070 high grade glioma ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868 9004926 Arid1b AT-rich interaction domain 1B gene DOID:326 ischemia ISO RGD:708504 D RGD:9068941 20200609 RGD PMID:14633620|REF_RGD_ID:1302474 9004926 Arid1b AT-rich interaction domain 1B gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1316702 D RGD:9068941 20210507 RGD DNA:mutations PMID:32791957|REF_RGD_ID:126848874 9004926 Arid1b AT-rich interaction domain 1B gene DOID:3948 adrenocortical carcinoma ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortex carcinoma PMID:25674384|PMID:28492532|PMID:30349098 9004926 Arid1b AT-rich interaction domain 1B gene DOID:420 hypertrichosis ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichosis PMID:25741868 9004926 Arid1b AT-rich interaction domain 1B gene DOID:557 kidney disease ISO RGD:1316702 D RGD:9068941 20200609 RGD PMID:14633620|REF_RGD_ID:1302474 9004926 Arid1b AT-rich interaction domain 1B gene DOID:630 genetic disease ISO RGD:1316702 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25249037|PMID:25326635|PMID:25356970|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:26350204|PMID:26376624|PMID:27391121|PMID:27474218|PMID:27824329|PMID:28323383|PMID:28492532|PMID:29286531|PMID:29504208|PMID:30349098|PMID:31164752|PMID:31618753|PMID:34356170|PMID:34706719|PMID:9536098 9004926 Arid1b AT-rich interaction domain 1B gene DOID:684 hepatocellular carcinoma ISO RGD:1316702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22634756 9004926 Arid1b AT-rich interaction domain 1B gene DOID:769 neuroblastoma ISO RGD:1316702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202128 9004926 Arid1b AT-rich interaction domain 1B gene DOID:769 neuroblastoma ISO RGD:1316702 D RGD:9068941 20200609 RGD DNA:deletion,haploinsufficiency: : PMID:23202128|REF_RGD_ID:13439724 9004926 Arid1b AT-rich interaction domain 1B gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1316702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868|PMID:30349098|PMID:34706719 9004926 Arid1b AT-rich interaction domain 1B gene DOID:9002112 Wiedemann-Steiner syndrome ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome 9004926 Arid1b AT-rich interaction domain 1B gene DOID:9003531 Nicolaides Baraitser Syndrome ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome PMID:25741868 9004926 Arid1b AT-rich interaction domain 1B gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 9004926 Arid1b AT-rich interaction domain 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9004926 Arid1b AT-rich interaction domain 1B gene DOID:9004507 Hirsutism ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hirsutism 9004926 Arid1b AT-rich interaction domain 1B gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9004926 Arid1b AT-rich interaction domain 1B gene DOID:9008086 Developmental Disabilities ISO RGD:1316702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741885 9004926 Arid1b AT-rich interaction domain 1B gene DOID:9008582 Developmental Disease ISO RGD:1316702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9004959 Tm9sf3 transmembrane 9 superfamily member 3 gene DOID:630 genetic disease ISO RGD:1604607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005016 Lpcat1 lysophosphatidylcholine acyltransferase 1 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1602676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 9005016 Lpcat1 lysophosphatidylcholine acyltransferase 1 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1602676 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 9005016 Lpcat1 lysophosphatidylcholine acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1602676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005036 Mbtps1 membrane bound transcription factor peptidase, site 1 gene DOID:0060250 idiopathic scoliosis ISO RGD:737210 D RGD:9068941 20220825 MouseDO 9005036 Mbtps1 membrane bound transcription factor peptidase, site 1 gene DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type ISO RGD:732575 D RGD:7240710 20190911 OMIM 9005036 Mbtps1 membrane bound transcription factor peptidase, site 1 gene DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type ISO RGD:732575 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, kondo-fu type PMID:25741868|PMID:28492532|PMID:30046013|PMID:30099045|PMID:32064983 9005036 Mbtps1 membrane bound transcription factor peptidase, site 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:732575 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 9005036 Mbtps1 membrane bound transcription factor peptidase, site 1 gene DOID:630 genetic disease ISO RGD:732575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9005036 Mbtps1 membrane bound transcription factor peptidase, site 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 9005036 Mbtps1 membrane bound transcription factor peptidase, site 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9005036 Mbtps1 membrane bound transcription factor peptidase, site 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732575 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 9005036 Mbtps1 membrane bound transcription factor peptidase, site 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:732575 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9005065 Kcng1 potassium voltage-gated channel modifier subfamily G member 1 gene DOID:630 genetic disease ISO RGD:1604067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005085 Znf280a zinc finger protein 280A gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1342488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 9005085 Znf280a zinc finger protein 280A gene DOID:11198 DiGeorge syndrome ISO RGD:1342488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 9005085 Znf280a zinc finger protein 280A gene DOID:630 genetic disease ISO RGD:1342488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005094 Sgpp2 sphingosine-1-phosphate phosphatase 2 gene DOID:630 genetic disease ISO RGD:1346522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005094 Sgpp2 sphingosine-1-phosphate phosphatase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9005129 LOC102024993 cytochrome c oxidase subunit 5B, mitochondrial gene DOID:10763 hypertension ISO RGD:620608 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle PMID:16132109|REF_RGD_ID:2301377 9005129 LOC102024993 cytochrome c oxidase subunit 5B, mitochondrial gene DOID:630 genetic disease ISO RGD:734145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005129 LOC102024993 cytochrome c oxidase subunit 5B, mitochondrial gene DOID:9003936 Cardiomegaly ISO RGD:620608 D RGD:9068941 20200609 RGD associated with Hypertension PMID:16132109|REF_RGD_ID:2301377 9005129 LOC102024993 cytochrome c oxidase subunit 5B, mitochondrial gene DOID:9007102 Myocardial Ischemia ISO RGD:734145 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9005137 S1pr4 sphingosine-1-phosphate receptor 4 gene DOID:630 genetic disease ISO RGD:1312457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005137 S1pr4 sphingosine-1-phosphate receptor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312457 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9005137 S1pr4 sphingosine-1-phosphate receptor 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1312457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22406263 9005142 Mios meiosis regulator for oocyte development gene DOID:630 genetic disease ISO RGD:1601868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005163 Atp5pb ATP synthase peripheral stalk-membrane subunit b gene DOID:0080600 COVID-19 ISO RGD:736319 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9005163 Atp5pb ATP synthase peripheral stalk-membrane subunit b gene DOID:4467 clear cell renal cell carcinoma ISO RGD:736319 D RGD:9068941 20200609 RGD PMID:28672194|REF_RGD_ID:14696810 9005163 Atp5pb ATP synthase peripheral stalk-membrane subunit b gene DOID:630 genetic disease ISO RGD:736319 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005163 Atp5pb ATP synthase peripheral stalk-membrane subunit b gene DOID:684 hepatocellular carcinoma ISO RGD:736319 D RGD:9068941 20200609 RGD associated with hepatitis C PMID:18932288|REF_RGD_ID:14696822 9005174 Znf382 zinc finger protein 382 gene DOID:630 genetic disease ISO RGD:1352355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005175 Pitx1 paired like homeodomain 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9005175 Pitx1 paired like homeodomain 1 gene DOID:0111390 mucopolysaccharidosis Ih ISO RGD:733838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hurler syndrome PMID:25741868 9005175 Pitx1 paired like homeodomain 1 gene DOID:11836 clubfoot ISO RGD:733838 D RGD:7240710 20180130 OMIM 9005175 Pitx1 paired like homeodomain 1 gene DOID:11836 clubfoot ISO RGD:733838 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY | ClinVar Annotator: match by term: Clubfoot | ClinVar Annotator: match by term: PITX1-related condition PMID:18950742|PMID:22258522|PMID:25741868|PMID:28492532 9005175 Pitx1 paired like homeodomain 1 gene DOID:12849 autistic disorder ISO RGD:733838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18053270 9005175 Pitx1 paired like homeodomain 1 gene DOID:630 genetic disease ISO RGD:733838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9005175 Pitx1 paired like homeodomain 1 gene DOID:684 hepatocellular carcinoma ISO RGD:733838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9005175 Pitx1 paired like homeodomain 1 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666240 9005175 Pitx1 paired like homeodomain 1 gene DOID:9004044 Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly ISO RGD:733838 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Liebenberg syndrome PMID:25741868|PMID:28492532 9005175 Pitx1 paired like homeodomain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9005175 Pitx1 paired like homeodomain 1 gene DOID:9005616 Micrognathism ISO RGD:733838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Micrognathia PMID:25741868 9005175 Pitx1 paired like homeodomain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9005190 Twnk twinkle mtDNA helicase gene DOID:0050823 third-degree atrioventricular block ISO RGD:1317337 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block 9005190 Twnk twinkle mtDNA helicase gene DOID:0050857 Perrault syndrome ISO RGD:1317337 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:27650058|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31055809|PMID:31455392|PMID:31852434|PMID:32234020|PMID:32281099|PMID:32619254|PMID:33095980|PMID:35035228 9005190 Twnk twinkle mtDNA helicase gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1317337 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:17614277|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28454995|PMID:28492532|PMID:29458409|PMID:30770810|PMID:30799093|PMID:31852434|PMID:32619254|PMID:33095980|PMID:35011763|PMID:35286480|PMID:35982159 9005190 Twnk twinkle mtDNA helicase gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1317337 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:25741868|PMID:28492532|PMID:35982159 9005190 Twnk twinkle mtDNA helicase gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:1317337 D RGD:7240710 20180130 OMIM 9005190 Twnk twinkle mtDNA helicase gene DOID:0080126 mitochondrial DNA depletion syndrome 7 ISO RGD:1317337 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | ClinVar Annotator: match by term: mitochondrial hepatopathy PMID:11431692|PMID:12707443|PMID:12872260|PMID:16135556|PMID:17614277|PMID:17722119|PMID:17921179|PMID:18575922|PMID:18973250|PMID:19084593|PMID:20479361|PMID:20659899|PMID:21689831|PMID:22353293|PMID:22928142|PMID:24018892|PMID:24086434|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:27650058|PMID:28178980|PMID:28454995|PMID:28492532|PMID:28776642|PMID:28812649|PMID:29458409|PMID:30496414|PMID:30770810|PMID:30799093|PMID:31055809|PMID:31852434|PMID:32619254|PMID:33095980|PMID:35011763|PMID:35286480|PMID:35982159|PMID:36099812 9005190 Twnk twinkle mtDNA helicase gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1317337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:15668446|PMID:17614277|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:27551684|PMID:28492532|PMID:29458409 9005190 Twnk twinkle mtDNA helicase gene DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ISO RGD:1317337 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:15668446|PMID:17614277|PMID:20301746|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28454995|PMID:28492532|PMID:29458409|PMID:30770810|PMID:30799093|PMID:31852434|PMID:32619254|PMID:33095980|PMID:35011763|PMID:35286480|PMID:35982159 9005190 Twnk twinkle mtDNA helicase gene DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1317337 D RGD:7240710 20180130 OMIM 9005190 Twnk twinkle mtDNA helicase gene DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 ISO RGD:1317337 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 PMID:10522883|PMID:11431692|PMID:12163192|PMID:12707443|PMID:12872260|PMID:15668446|PMID:1634620|PMID:17614277|PMID:18575922|PMID:18973250|PMID:19084593|PMID:19353676|PMID:19428252|PMID:19513767|PMID:20301746|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24014582|PMID:24018892|PMID:24076137|PMID:24086434|PMID:25133958|PMID:25355836|PMID:25741868|PMID:25989649|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28454995|PMID:28492532|PMID:28812649|PMID:29458409|PMID:30496414|PMID:30770810|PMID:30799093|PMID:31271879|PMID:31852434|PMID:32619254|PMID:33095980|PMID:34409151|PMID:35011763|PMID:35286480 9005190 Twnk twinkle mtDNA helicase gene DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:11431692|PMID:18575922|PMID:18971204|PMID:20659899|PMID:25741868|PMID:28492532 9005190 Twnk twinkle mtDNA helicase gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1317337 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32161153|PMID:35982159 9005190 Twnk twinkle mtDNA helicase gene DOID:12558 chronic progressive external ophthalmoplegia susceptibility ISO RGD:1317337 D RGD:9068941 20200609 RGD DNA:mutations PMID:11431692|REF_RGD_ID:1600544 9005190 Twnk twinkle mtDNA helicase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317337 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21689831|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35982159 9005190 Twnk twinkle mtDNA helicase gene DOID:700 mitochondrial metabolism disease ISO RGD:1317337 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder PMID:11431692|PMID:12707443|PMID:12872260|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18575922|PMID:18971204|PMID:18973250|PMID:19084593|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20818383|PMID:20880070|PMID:24076137|PMID:24086434|PMID:25741868|PMID:26467025|PMID:27650058|PMID:28492532|PMID:28812649|PMID:30496414|PMID:31055809|PMID:32161153 9005190 Twnk twinkle mtDNA helicase gene DOID:9000124 Perrault Syndrome 5 ISO RGD:1317337 D RGD:7240710 20180130 OMIM 9005190 Twnk twinkle mtDNA helicase gene DOID:9000124 Perrault Syndrome 5 ISO RGD:1317337 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Perrault syndrome 5 PMID:25355836|PMID:25741868|PMID:27551684|PMID:27650058|PMID:28178980|PMID:28492532|PMID:29302074|PMID:31055809|PMID:31455392|PMID:31823625|PMID:32234020|PMID:32281099|PMID:32619254|PMID:33095980|PMID:33486010|PMID:35035228 9005190 Twnk twinkle mtDNA helicase gene DOID:9001890 Auditory Neuropathy ISO RGD:1317337 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy PMID:30818899 9005190 Twnk twinkle mtDNA helicase gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1317337 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive PMID:21689831|PMID:25741868|PMID:28492532 9005190 Twnk twinkle mtDNA helicase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307884 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22743328|REF_RGD_ID:8694093 9005190 Twnk twinkle mtDNA helicase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1317338 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:retina,mitochondrion: PMID:22229649|REF_RGD_ID:8694187 9005190 Twnk twinkle mtDNA helicase gene DOID:9005815 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive ISO RGD:1317337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic PMID:12707443|PMID:12872260|PMID:18575922|PMID:18973250|PMID:19084593|PMID:20659899|PMID:24086434|PMID:25741868|PMID:28492532|PMID:28812649|PMID:30496414 9005190 Twnk twinkle mtDNA helicase gene DOID:9008631 progressive myoclonus epilepsy 5 ISO RGD:1317337 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:21689831|PMID:25741868|PMID:28492532 9005202 Wfdc8 WAP four-disulfide core domain 8 gene DOID:2234 focal epilepsy ISO RGD:1347537 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9005202 Wfdc8 WAP four-disulfide core domain 8 gene DOID:630 genetic disease ISO RGD:1347537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005202 Wfdc8 WAP four-disulfide core domain 8 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1347537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 9005211 LOC102003313 chromosome unknown open reading frame, human C1orf21 gene DOID:0080600 COVID-19 ISO RGD:1319257 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9005211 LOC102003313 chromosome unknown open reading frame, human C1orf21 gene DOID:1540 parathyroid carcinoma ISO RGD:1319257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9005211 LOC102003313 chromosome unknown open reading frame, human C1orf21 gene DOID:630 genetic disease ISO RGD:1319257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005211 LOC102003313 chromosome unknown open reading frame, human C1orf21 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1309104 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9005211 LOC102003313 chromosome unknown open reading frame, human C1orf21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9005247 Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:0080074 neural tube defect ISO RGD:1550697 D RGD:9068941 20200609 RGD PMID:23267094|REF_RGD_ID:12914149 9005247 Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:0080074 neural tube defect ISO RGD:1550697 D RGD:9068941 20220825 MouseDO OMIM:182940 | OMIM:301410 | OMIM:601634 9005247 Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:0080074 neural tube defect susceptibility ISO RGD:1342984 D RGD:9068941 20200609 RGD DNA:deletion/insertion polymorphism:splice junction:rs3832406(human) PMID:19777576|REF_RGD_ID:12914147 9005247 Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:630 genetic disease ISO RGD:1342984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005247 Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1550697 D RGD:9068941 20200609 RGD PMID:23267094|REF_RGD_ID:12914149 9005279 Plcg1 phospholipase C gamma 1 gene DOID:0001816 angiosarcoma ISO RGD:735936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24633157 9005279 Plcg1 phospholipase C gamma 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:735936 D RGD:9068941 20220218 RGD protein:increased expression:colonic mucosa (human) PMID:8174133|REF_RGD_ID:151356944 9005279 Plcg1 phospholipase C gamma 1 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:735936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 9005279 Plcg1 phospholipase C gamma 1 gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:735936 D RGD:9068941 20220218 RGD protein:decreased expression:oral cavity (human) PMID:25085076|REF_RGD_ID:151356936 9005279 Plcg1 phospholipase C gamma 1 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:735936 D RGD:9068941 20200609 RGD PMID:26464646|REF_RGD_ID:11526681 9005279 Plcg1 phospholipase C gamma 1 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:735936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 9005279 Plcg1 phospholipase C gamma 1 gene DOID:10652 Alzheimer's disease ISO RGD:735936 D RGD:9068941 20200609 RGD PMID:8534418|REF_RGD_ID:13825140 9005279 Plcg1 phospholipase C gamma 1 gene DOID:1324 lung cancer exacerbates ISO RGD:735937 D RGD:9068941 20220224 RGD PMID:33077911|REF_RGD_ID:151356960 9005279 Plcg1 phospholipase C gamma 1 gene DOID:1612 breast cancer ISO RGD:735936 D RGD:9068941 20200609 RGD PMID:9703922|REF_RGD_ID:2299874 9005279 Plcg1 phospholipase C gamma 1 gene DOID:219 colon cancer treatment ISO RGD:3347 D RGD:9068941 20220218 RGD PMID:7812955|REF_RGD_ID:151356942 9005279 Plcg1 phospholipase C gamma 1 gene DOID:2234 focal epilepsy ISO RGD:735936 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9005279 Plcg1 phospholipase C gamma 1 gene DOID:2876 laryngeal squamous cell carcinoma ameliorates ISO RGD:735936 D RGD:9068941 20220317 RGD mRNA:increased expression:larynx (human) PMID:33466212|REF_RGD_ID:151665160 9005279 Plcg1 phospholipase C gamma 1 gene DOID:3459 breast carcinoma ISO RGD:735936 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:1683701|REF_RGD_ID:2299875 9005279 Plcg1 phospholipase C gamma 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:735936 D RGD:9068941 20220407 RGD human cell line in a mouse model PMID:33928024|REF_RGD_ID:151665816 9005279 Plcg1 phospholipase C gamma 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:735936 D RGD:9068941 20220224 RGD protein:decreased expression:lung (human) PMID:33077911|REF_RGD_ID:151356960 9005279 Plcg1 phospholipase C gamma 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9005279 Plcg1 phospholipase C gamma 1 gene DOID:630 genetic disease ISO RGD:735936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005279 Plcg1 phospholipase C gamma 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:735936 D RGD:9068941 20220218 RGD human cell line in a mouse model PMID:30623526|REF_RGD_ID:151356937 9005279 Plcg1 phospholipase C gamma 1 gene DOID:8541 Sezary's disease ISO RGD:735936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 9005279 Plcg1 phospholipase C gamma 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3347 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:lens PMID:17612968|REF_RGD_ID:2299877 9005279 Plcg1 phospholipase C gamma 1 gene DOID:9007944 IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION ISO RGD:735936 D RGD:7240710 20231108 OMIM 9005279 Plcg1 phospholipase C gamma 1 gene DOID:9007944 IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION ISO RGD:735936 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Immune dysregulation, autoimmunity, and autoinflammation PMID:37422272 9005279 Plcg1 phospholipase C gamma 1 gene DOID:9256 colorectal cancer ISO RGD:735936 D RGD:9068941 20220218 RGD protein:increased expression:colorectum (human) PMID:8275435|REF_RGD_ID:151356938 9005279 Plcg1 phospholipase C gamma 1 gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:3347 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 9005317 Hip1 huntingtin interacting protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9005317 Hip1 huntingtin interacting protein 1 gene DOID:630 genetic disease ISO RGD:736003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005317 Hip1 huntingtin interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736003 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9005317 Hip1 huntingtin interacting protein 1 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:736003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 9005366 Arhgap40 Rho GTPase activating protein 40 gene DOID:2234 focal epilepsy ISO RGD:1343259 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9005366 Arhgap40 Rho GTPase activating protein 40 gene DOID:630 genetic disease ISO RGD:1343259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005409 Meox1 mesenchyme homeobox 1 gene DOID:0080590 Klippel-Feil syndrome 2 ISO RGD:1318950 D RGD:7240710 20180130 OMIM 9005409 Meox1 mesenchyme homeobox 1 gene DOID:0080590 Klippel-Feil syndrome 2 ISO RGD:1318950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive PMID:23290072|PMID:24073994 9005409 Meox1 mesenchyme homeobox 1 gene DOID:10426 Klippel-Feil syndrome ISO RGD:1318950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9005409 Meox1 mesenchyme homeobox 1 gene DOID:3042 allergic contact dermatitis ISO RGD:1318950 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 9005409 Meox1 mesenchyme homeobox 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1318950 D RGD:9068941 20220811 CTD CTD Direct Evidence: therapeutic PMID:34837450 9005409 Meox1 mesenchyme homeobox 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1318950 D RGD:9068941 20220811 CTD CTD Direct Evidence: therapeutic PMID:34837450 9005409 Meox1 mesenchyme homeobox 1 gene DOID:630 genetic disease ISO RGD:1318950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9005419 Pgk2 phosphoglycerate kinase 2 gene DOID:630 genetic disease ISO RGD:1315351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005430 Diaph1 diaphanous related formin 1 gene DOID:0060744 Pendred syndrome ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:30311386 9005430 Diaph1 diaphanous related formin 1 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 9005430 Diaph1 diaphanous related formin 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9005430 Diaph1 diaphanous related formin 1 gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:1321771 D RGD:7240710 20180130 OMIM 9005430 Diaph1 diaphanous related formin 1 gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:1321771 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME PMID:16199547|PMID:17576681|PMID:22938506|PMID:23804846|PMID:24033266|PMID:24781755|PMID:25342930|PMID:25741868|PMID:26011067|PMID:26463574|PMID:26467025|PMID:26912466|PMID:27707755|PMID:27808407|PMID:27911912|PMID:28492532|PMID:28815995|PMID:28983057|PMID:29758562|PMID:30311386|PMID:30896630|PMID:32678080|PMID:33176815|PMID:33229591|PMID:33662367|PMID:34279089|PMID:35307828|PMID:36118902|PMID:9360932|PMID:9536098 9005430 Diaph1 diaphanous related formin 1 gene DOID:10003 sensorineural hearing loss susceptibility ISO RGD:1321771 D RGD:9068941 20200609 RGD autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation PMID:9360932|REF_RGD_ID:1601058 9005430 Diaph1 diaphanous related formin 1 gene DOID:10907 microcephaly ISO RGD:1321771 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24781755|PMID:25558065|PMID:25741868|PMID:28492532 9005430 Diaph1 diaphanous related formin 1 gene DOID:14264 benign neonatal seizures ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal seizure 9005430 Diaph1 diaphanous related formin 1 gene DOID:1826 epilepsy ISO RGD:1321771 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Seizure Disorders PMID:24781755|PMID:25558065|PMID:25741868 9005430 Diaph1 diaphanous related formin 1 gene DOID:3633 beta-mannosidosis ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:28492532|PMID:30311386 9005430 Diaph1 diaphanous related formin 1 gene DOID:630 genetic disease ISO RGD:1321771 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22938506|PMID:24033266|PMID:25741868|PMID:28492532 9005430 Diaph1 diaphanous related formin 1 gene DOID:8725 vascular dementia ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:35307828 9005430 Diaph1 diaphanous related formin 1 gene DOID:9001276 Failure to Thrive ISO RGD:1321771 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:24781755|PMID:25558065|PMID:25741868 9005430 Diaph1 diaphanous related formin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9005430 Diaph1 diaphanous related formin 1 gene DOID:9004538 Hearing Loss ISO RGD:1321771 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:24033266|PMID:24781755|PMID:25741868|PMID:26463574|PMID:28492532|PMID:30311386|PMID:32581362 9005430 Diaph1 diaphanous related formin 1 gene DOID:9005489 Seizures, Cortical Blindness, and Microcephaly Syndrome ISO RGD:1321771 D RGD:7240710 20180130 OMIM 9005430 Diaph1 diaphanous related formin 1 gene DOID:9005489 Seizures, Cortical Blindness, and Microcephaly Syndrome ISO RGD:1321771 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome PMID:16199547|PMID:17576681|PMID:22938506|PMID:23804846|PMID:24033266|PMID:24781755|PMID:25342930|PMID:25558065|PMID:25741868|PMID:26011067|PMID:26463574|PMID:26467025|PMID:26912466|PMID:27707755|PMID:27808407|PMID:27911912|PMID:28492532|PMID:28815995|PMID:28983057|PMID:29758562|PMID:30311386|PMID:30896630|PMID:32678080|PMID:33176815|PMID:33229591|PMID:33662367|PMID:34279089|PMID:35307828|PMID:36118902|PMID:9360932|PMID:9536098 9005430 Diaph1 diaphanous related formin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9005430 Diaph1 diaphanous related formin 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1321771 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24781755|PMID:25558065|PMID:25741868 9005468 Znf598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1312605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062 9005468 Znf598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1312605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9005468 Znf598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:1826 epilepsy ISO RGD:1312605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9005468 Znf598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1312605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9005468 Znf598 zinc finger protein 598, E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1312605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005493 Cstf1 cleavage stimulation factor subunit 1 gene DOID:630 genetic disease ISO RGD:1319516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:0050891 adrenal cortical adenoma ISO RGD:1344608 D RGD:9068941 20200609 RGD associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) PMID:24855271|REF_RGD_ID:13515122 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:0080182 mixed fibrolamellar hepatocellular carcinoma susceptibility ISO RGD:1312337 D RGD:9068941 20220204 RGD PMID:28923495|REF_RGD_ID:151347843 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1344608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:1344608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACTH-independent adrenal Cushing syndrome, somatic PMID:24571724|PMID:24700472|PMID:24747643|PMID:24855271 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:2316 brain ischemia ISO RGD:3389 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, cerebral cortex, nucleus PMID:12150772|REF_RGD_ID:7327190 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:4947 cholangiocarcinoma ISO RGD:1344608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26258846 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:5015 fibrolamellar carcinoma ISO RGD:1312336 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:liver (human) PMID:27027723|REF_RGD_ID:151347845 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:6000 congestive heart failure ISO RGD:1344608 D RGD:9068941 20200609 RGD PMID:10830164|REF_RGD_ID:1580714 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:630 genetic disease ISO RGD:1344608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:670 amphetamine abuse treatment ISO RGD:3389 D RGD:9068941 20231216 RGD protein:increased expression, increased phosphorylation:nucleus accumbens, ventral tegmental area PMID:31900897|REF_RGD_ID:401938636 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:1344608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747643 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3389 D RGD:9068941 20200609 RGD PMID:7769990|REF_RGD_ID:7327191 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9004765 Cardioacrofacial Dysplasia 1 ISO RGD:1344608 D RGD:7240710 20210113 OMIM 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9004765 Cardioacrofacial Dysplasia 1 ISO RGD:1344608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 PMID:25741868|PMID:33058759 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9006355 Primary Pigmented Nodular Adrenocortical Disease, 4 ISO RGD:1344608 D RGD:7240710 20180130 OMIM 9005513 Prkaca protein kinase cAMP-activated catalytic subunit alpha gene DOID:9006355 Primary Pigmented Nodular Adrenocortical Disease, 4 ISO RGD:1344608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 4 PMID:24571724|PMID:24700472|PMID:24747643|PMID:24855271 9005533 Myo7a myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 9005533 Myo7a myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22903915|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 9005533 Myo7a myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 9005533 Myo7a myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:34837038|PMID:34948090|PMID:35551639|PMID:35802133|PMID:36147510|PMID:36633841|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 9005533 Myo7a myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34148116|PMID:34426522|PMID:34837038|PMID:34948090|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:36147510|PMID:36633841|PMID:36909829|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 9005533 Myo7a myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25326637|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34148116|PMID:34426522|PMID:34837038|PMID:34948090|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:36147510|PMID:36633841|PMID:36909829|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 9005533 Myo7a myosin VIIA gene DOID:0050439 Usher syndrome ISO RGD:732206 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29276601|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30828346|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31541171|PMID:31836858|PMID:31964843|PMID:32097363|PMID:32165824|PMID:32428919|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34148116|PMID:34416374|PMID:34426522|PMID:34837038|PMID:34948090|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:36147510|PMID:36164746|PMID:36633841|PMID:36672771|PMID:36909829|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 9005533 Myo7a myosin VIIA gene DOID:0050563 nonsyndromic deafness ISO RGD:732206 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10094549|PMID:10930322|PMID:15300860|PMID:15823922|PMID:16199547|PMID:18463160|PMID:22135276|PMID:23770805|PMID:23804846|PMID:24033266|PMID:25333064|PMID:25404053|PMID:25741868|PMID:26445815|PMID:26969326|PMID:27460420|PMID:27573290|PMID:28000701|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32097363|PMID:8900236 9005533 Myo7a myosin VIIA gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:732206 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15043528|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:18181211|PMID:19074810|PMID:20052763|PMID:21311020|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:22898263|PMID:23451239|PMID:23591405|PMID:23770805|PMID:24033266|PMID:24194196|PMID:25404053|PMID:25468891|PMID:25558175|PMID:25741868|PMID:25798947|PMID:26226137|PMID:26791358|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29692870|PMID:30303587|PMID:30718709|PMID:31479088|PMID:33187236|PMID:33269433|PMID:36147510|PMID:36909829|PMID:8900236 9005533 Myo7a myosin VIIA gene DOID:0060744 Pendred syndrome ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:24033266|PMID:28492532|PMID:30311386|PMID:30718709 9005533 Myo7a myosin VIIA gene DOID:0080600 COVID-19 ISO RGD:732206 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9005533 Myo7a myosin VIIA gene DOID:0110477 autosomal recessive nonsyndromic deafness 2 ISO RGD:732206 D RGD:7240710 20180130 OMIM 9005533 Myo7a myosin VIIA gene DOID:0110477 autosomal recessive nonsyndromic deafness 2 ISO RGD:732206 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29099798|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29276601|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30828346|PMID:30881389|PMID:31035849|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31541171|PMID:31964843|PMID:32097363|PMID:32165824|PMID:32428919|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34148116|PMID:34416374|PMID:34426522|PMID:34837038|PMID:34948090|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:36147510|PMID:36164746|PMID:36633841|PMID:36672771|PMID:36909829|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 9005533 Myo7a myosin VIIA gene DOID:0110543 autosomal dominant nonsyndromic deafness 11 ISO RGD:732206 D RGD:7240710 20180130 OMIM 9005533 Myo7a myosin VIIA gene DOID:0110543 autosomal dominant nonsyndromic deafness 11 ISO RGD:732206 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 11 PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16449806|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19461658|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21738395|PMID:21873662|PMID:22135276|PMID:22681893|PMID:22690115|PMID:22785243|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:25080338|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26467025|PMID:26486028|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27610647|PMID:27729122|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28041643|PMID:28472130|PMID:28492532|PMID:28802369|PMID:28944237|PMID:29048421|PMID:29196752|PMID:29276601|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30459346|PMID:30718709|PMID:30828346|PMID:30881389|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31964843|PMID:32097363|PMID:32165824|PMID:32681043|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33724713|PMID:34416374|PMID:34426522|PMID:34652575|PMID:34837038|PMID:34948090|PMID:35453549|PMID:35640668|PMID:35802133|PMID:36147510|PMID:36633841|PMID:36672771|PMID:8900236|PMID:9002678|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356 9005533 Myo7a myosin VIIA gene DOID:0110826 Usher syndrome type 1 ISO RGD:732206 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16786533|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22593002|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26469752|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29276601|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30828346|PMID:30881389|PMID:31035849|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31541171|PMID:31836858|PMID:31964843|PMID:32097363|PMID:32165824|PMID:32428919|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34148116|PMID:34416374|PMID:34426522|PMID:34837038|PMID:34948090|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:36147510|PMID:36164746|PMID:36633841|PMID:36672771|PMID:36909829|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356 9005533 Myo7a myosin VIIA gene DOID:0110827 Usher syndrome type 2 ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:25741868 9005533 Myo7a myosin VIIA gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:24033266|PMID:28492532 9005533 Myo7a myosin VIIA gene DOID:0111590 Cohen syndrome ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9382091 9005533 Myo7a myosin VIIA gene DOID:10003 sensorineural hearing loss ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:16449806|PMID:19461658|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28802369|PMID:30311386|PMID:34652575 9005533 Myo7a myosin VIIA gene DOID:10584 retinitis pigmentosa ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10094549|PMID:19074810|PMID:24033266|PMID:25404053|PMID:25741868|PMID:27957503|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30718709|PMID:8900236 9005533 Myo7a myosin VIIA gene DOID:1059 intellectual disability ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9005533 Myo7a myosin VIIA gene DOID:14791 Leber congenital amaurosis ISO RGD:732206 D RGD:9068941 20240314 RGD DNA:missense mutation:cds:c.578C>T (p.T193I)(human) PMID:21901789|REF_RGD_ID:11537385 9005533 Myo7a myosin VIIA gene DOID:1909 melanoma ISO RGD:732206 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 9005533 Myo7a myosin VIIA gene DOID:3426 vestibular disease ISO RGD:732207 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (mouse) PMID:9680294|REF_RGD_ID:4892285 9005533 Myo7a myosin VIIA gene DOID:630 genetic disease ISO RGD:732206 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094549|PMID:10930322|PMID:15043528|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:17361009|PMID:17576681|PMID:18463160|PMID:18484607|PMID:19683999|PMID:20052763|PMID:20513143|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:23770805|PMID:24033266|PMID:24199935|PMID:25404053|PMID:25525159|PMID:25741868|PMID:26226137|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28944237|PMID:30303587|PMID:30311386|PMID:30459346|PMID:31479088|PMID:32531858|PMID:8900236|PMID:9536098 9005533 Myo7a myosin VIIA gene DOID:8501 fundus dystrophy ISO RGD:732206 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15043528|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:18181211|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20497194|PMID:20513143|PMID:21311020|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:23148716|PMID:23208854|PMID:23451239|PMID:23591405|PMID:23770805|PMID:24033266|PMID:24199935|PMID:24831256|PMID:25080338|PMID:25333064|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25575603|PMID:25741868|PMID:25788563|PMID:26338283|PMID:26486028|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27583663|PMID:27743452|PMID:27957503|PMID:28000701|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29490346|PMID:30303587|PMID:30390570|PMID:30459346|PMID:31266775|PMID:31479088|PMID:31836858|PMID:32747562|PMID:33576163|PMID:34148116|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9259201|PMID:9382091|PMID:9536098 9005533 Myo7a myosin VIIA gene DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness ISO RGD:732206 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9382091 9005533 Myo7a myosin VIIA gene DOID:9001890 Auditory Neuropathy ISO RGD:732206 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy 9005533 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:7240710 20180130 OMIM 9005533 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29178603|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30029497|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33269433|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 9005533 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 9005533 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34148116|PMID:34426522|PMID:34837038|PMID:34948090|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:36147510|PMID:36633841|PMID:36909829|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 9005533 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:732206 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:11391666|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29276601|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30828346|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31541171|PMID:31964843|PMID:32097363|PMID:32165824|PMID:32428919|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33089500|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34148116|PMID:34416374|PMID:34426522|PMID:34837038|PMID:34948090|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:36147510|PMID:36164746|PMID:36633841|PMID:36672771|PMID:36909829|PMID:7568224|PMID:7870171|PMID:7951250|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9171833|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659 9005533 Myo7a myosin VIIA gene DOID:9003365 Usher Syndrome Type 1B treatment ISO RGD:732206 D RGD:9068941 20200609 RGD PMID:23991031|REF_RGD_ID:8694151 9005533 Myo7a myosin VIIA gene DOID:9004538 Hearing Loss ISO RGD:732206 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16199547|PMID:21436283|PMID:21873662|PMID:22135276|PMID:23208854|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:26486028|PMID:26969326|PMID:27068579|PMID:27160483|PMID:28492532|PMID:29276601|PMID:30311386|PMID:30828346|PMID:30872814|PMID:8900236|PMID:9259201 9005533 Myo7a myosin VIIA gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:732206 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:24033266|PMID:28492532 9005533 Myo7a myosin VIIA gene DOID:9008681 Deafness ISO RGD:732206 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Deafness PMID:22135276|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587|PMID:36147510 9005533 Myo7a myosin VIIA gene DOID:9649 congenital nystagmus ISO RGD:732206 D RGD:9068941 20200609 RGD associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human) PMID:21901789|REF_RGD_ID:11537385 9005533 Myo7a myosin VIIA gene DOID:9849 Meniere's disease ISO RGD:732206 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:15221449|PMID:16470552|PMID:20146813|PMID:21487335|PMID:22681893|PMID:23804846|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28000701|PMID:28492532|PMID:30303587|PMID:30459346|PMID:33363762 9005586 Rora RAR related orphan receptor A gene DOID:1059 intellectual disability ISO RGD:1318175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency PMID:29656859 9005586 Rora RAR related orphan receptor A gene DOID:12849 autistic disorder ISO RGD:1318175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20375269|PMID:21359227 9005586 Rora RAR related orphan receptor A gene DOID:2717 Bloom syndrome ISO RGD:1318175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9005586 Rora RAR related orphan receptor A gene DOID:630 genetic disease ISO RGD:1318175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29656859 9005586 Rora RAR related orphan receptor A gene DOID:9000217 Stomach Neoplasms ISO RGD:1318175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9005586 Rora RAR related orphan receptor A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9005586 Rora RAR related orphan receptor A gene DOID:9009192 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA ISO RGD:1318175 D RGD:7240710 20190315 OMIM 9005586 Rora RAR related orphan receptor A gene DOID:9009192 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA ISO RGD:1318175 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29656859|PMID:29758562 9005586 Rora RAR related orphan receptor A gene DOID:9256 colorectal cancer ISO RGD:1318175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9005616 Manea mannosidase endo-alpha gene DOID:11612 polycystic ovary syndrome ISO RGD:1345544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9005616 Manea mannosidase endo-alpha gene DOID:2030 anxiety disorder susceptibility ISO RGD:1345544 D RGD:9068941 20231102 RGD DNA:SNP:3'utr: (rs1133503) (Human) PMID:24473444|REF_RGD_ID:401851911 9005616 Manea mannosidase endo-alpha gene DOID:594 panic disorder susceptibility ISO RGD:1345544 D RGD:9068941 20231102 RGD associated with substance dependence; DNA:SNP:3'utr: (rs1133503) (Human) PMID:24473444|REF_RGD_ID:401851911 9005616 Manea mannosidase endo-alpha gene DOID:630 genetic disease ISO RGD:1345544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005616 Manea mannosidase endo-alpha gene DOID:9004890 Paranoid Disorders ISO RGD:1345544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 9005616 Manea mannosidase endo-alpha gene DOID:9004890 Paranoid Disorders susceptibility ISO RGD:1345544 D RGD:9068941 20231102 RGD associated with cocaine dependence; DNA:SNP:3'utr: (rs1133503) (human) PMID:18438686|REF_RGD_ID:401851917 9005616 Manea mannosidase endo-alpha gene DOID:9004890 Paranoid Disorders susceptibility ISO RGD:1345544 D RGD:9068941 20231102 RGD associated with cocaine dependence;DNA:SNPs:multiple PMID:19255376|REF_RGD_ID:401851915 9005616 Manea mannosidase endo-alpha gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1345544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686|PMID:19255376 9005616 Manea mannosidase endo-alpha gene DOID:9975 cocaine dependence susceptibility ISO RGD:1345544 D RGD:9068941 20231102 RGD DNA:SNPs:multiple PMID:19255376|REF_RGD_ID:401851915 9005632 Cplx4 complexin 4 gene DOID:0060842 isolated microphthalmia 3 ISO RGD:1316951 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 3 PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532 9005632 Cplx4 complexin 4 gene DOID:0111988 immunodeficiency 12 ISO RGD:1316951 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency PMID:28492532 9005632 Cplx4 complexin 4 gene DOID:630 genetic disease ISO RGD:1316951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005647 Edn1 endothelin 1 gene DOID:0050152 aspiration pneumonia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:19262391|REF_RGD_ID:4145069 9005647 Edn1 endothelin 1 gene DOID:0050700 cardiomyopathy ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11589785 9005647 Edn1 endothelin 1 gene DOID:0050758 metabolic acidosis treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:17255858|REF_RGD_ID:1625312 9005647 Edn1 endothelin 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:myocardium (rat) PMID:19358946|REF_RGD_ID:4145067 9005647 Edn1 endothelin 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K198N (human) PMID:18580062|REF_RGD_ID:4145075 9005647 Edn1 endothelin 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:17198911|REF_RGD_ID:4144901 9005647 Edn1 endothelin 1 gene DOID:0060224 atrial fibrillation ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762801 9005647 Edn1 endothelin 1 gene DOID:0060224 atrial fibrillation severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:22669310|REF_RGD_ID:8661797 9005647 Edn1 endothelin 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15371886 9005647 Edn1 endothelin 1 gene DOID:10230 aortic atherosclerosis exacerbates ISO RGD:730848 D RGD:9068941 20230720 RGD associated with type 1 diabetes mellitus; PMID:32533834|REF_RGD_ID:329955566 9005647 Edn1 endothelin 1 gene DOID:10584 retinitis pigmentosa ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:20005906|REF_RGD_ID:8661800 9005647 Edn1 endothelin 1 gene DOID:10591 pre-eclampsia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25230003 9005647 Edn1 endothelin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:22406080|REF_RGD_ID:8661676 9005647 Edn1 endothelin 1 gene DOID:1074 kidney failure ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7967349 9005647 Edn1 endothelin 1 gene DOID:1074 kidney failure onset ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:20888384|REF_RGD_ID:4144130 9005647 Edn1 endothelin 1 gene DOID:10762 portal hypertension ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:17214938|REF_RGD_ID:4892595 9005647 Edn1 endothelin 1 gene DOID:10763 hypertension ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:20733093|REF_RGD_ID:4144829 9005647 Edn1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10474778|PMID:10669576|PMID:11847185|PMID:12149661|PMID:12425201|PMID:12600921|PMID:15188945|PMID:15302986|PMID:15314687|PMID:15834289|PMID:17130675|PMID:7721406|PMID:8152482|PMID:8440307 9005647 Edn1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K198N (human) PMID:17444275|REF_RGD_ID:1625065 9005647 Edn1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies;protein:increased secretion:plasma PMID:18496905|REF_RGD_ID:2313283 9005647 Edn1 endothelin 1 gene DOID:10763 hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11078355|REF_RGD_ID:8661804 9005647 Edn1 endothelin 1 gene DOID:10941 intracranial aneurysm ISO RGD:730848 D RGD:9068941 20230202 RGD protein:increased expression:serum PMID:32602008|REF_RGD_ID:155882593 9005647 Edn1 endothelin 1 gene DOID:10952 nephritis treatment ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple (rat) PMID:9176845|REF_RGD_ID:8662324 9005647 Edn1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:1618274|REF_RGD_ID:4145073 9005647 Edn1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16625121 9005647 Edn1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:8256914|REF_RGD_ID:4145079 9005647 Edn1 endothelin 1 gene DOID:11394 adult respiratory distress syndrome treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:16741035|REF_RGD_ID:8662284 9005647 Edn1 endothelin 1 gene DOID:114 heart disease ISO RGD:2532 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:heart left ventricle, plasma PMID:16810072|REF_RGD_ID:4892599 9005647 Edn1 endothelin 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:20647310|REF_RGD_ID:4144841 9005647 Edn1 endothelin 1 gene DOID:11823 hepatorenal syndrome ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7967349 9005647 Edn1 endothelin 1 gene DOID:1184 nephrotic syndrome ISO RGD:730848 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34783119 9005647 Edn1 endothelin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2532 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased secretion:serum (rat) PMID:19000375|REF_RGD_ID:2302065 9005647 Edn1 endothelin 1 gene DOID:12217 Lewy body dementia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 9005647 Edn1 endothelin 1 gene DOID:1222 cartilage disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 9005647 Edn1 endothelin 1 gene DOID:1287 cardiovascular system disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659 9005647 Edn1 endothelin 1 gene DOID:12930 dilated cardiomyopathy severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:aorta, plasma (human) PMID:10026353|REF_RGD_ID:8661756 9005647 Edn1 endothelin 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16191423 9005647 Edn1 endothelin 1 gene DOID:13241 Behcet's disease ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9132327|REF_RGD_ID:8661801 9005647 Edn1 endothelin 1 gene DOID:13544 low tension glaucoma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21946544|REF_RGD_ID:8661736 9005647 Edn1 endothelin 1 gene DOID:13550 angle-closure glaucoma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21946544|REF_RGD_ID:8661736 9005647 Edn1 endothelin 1 gene DOID:13641 exfoliation syndrome ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Cataract;protein:increased expression:aqueous humor (human) PMID:15031170|REF_RGD_ID:8661674 9005647 Edn1 endothelin 1 gene DOID:14330 Parkinson's disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 9005647 Edn1 endothelin 1 gene DOID:1470 major depressive disorder ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 9005647 Edn1 endothelin 1 gene DOID:1485 cystic fibrosis ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:10445603|REF_RGD_ID:4145062 9005647 Edn1 endothelin 1 gene DOID:1682 congenital heart disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9671575 9005647 Edn1 endothelin 1 gene DOID:1687 neovascular glaucoma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:20373895|REF_RGD_ID:8661689 9005647 Edn1 endothelin 1 gene DOID:1875 impotence ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17420087|REF_RGD_ID:2292142 9005647 Edn1 endothelin 1 gene DOID:1875 impotence ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12002441 9005647 Edn1 endothelin 1 gene DOID:1891 optic nerve disease ISO RGD:730848 D RGD:9068941 20200609 RGD human protein in a rat model PMID:18442442|REF_RGD_ID:8661688 9005647 Edn1 endothelin 1 gene DOID:1924 hypogonadism ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis (rat) PMID:17880366|REF_RGD_ID:4833436 9005647 Edn1 endothelin 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:16806235|REF_RGD_ID:8661682 9005647 Edn1 endothelin 1 gene DOID:2316 brain ischemia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (rat) PMID:8113329|REF_RGD_ID:4144887 9005647 Edn1 endothelin 1 gene DOID:2377 multiple sclerosis ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:12646761|REF_RGD_ID:8661710 9005647 Edn1 endothelin 1 gene DOID:2388 renal artery disease ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:afferent arteriole of kidney (rat) PMID:10217661|REF_RGD_ID:8662320 9005647 Edn1 endothelin 1 gene DOID:2527 nephrosis ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus (rat) PMID:9175058|REF_RGD_ID:4144855 9005647 Edn1 endothelin 1 gene DOID:2527 nephrosis ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7756592 9005647 Edn1 endothelin 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:730848 D RGD:9068941 20200609 RGD human gene in a rat model PMID:9595474|REF_RGD_ID:8662402 9005647 Edn1 endothelin 1 gene DOID:2841 asthma ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16981460 9005647 Edn1 endothelin 1 gene DOID:2841 asthma ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:transition:intron:g.4124T>C (human) PMID:11668616|REF_RGD_ID:4144869 9005647 Edn1 endothelin 1 gene DOID:2841 asthma ISO RGD:730848 D RGD:9068941 20200609 RGD Severe Persistent Allergic Asthma; protein:increased secretion:lung (human) PMID:20588001|REF_RGD_ID:4144895 9005647 Edn1 endothelin 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus (rat) PMID:8569091|REF_RGD_ID:4144848 9005647 Edn1 endothelin 1 gene DOID:2920 membranoproliferative glomerulonephritis treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:11601021|REF_RGD_ID:8662296 9005647 Edn1 endothelin 1 gene DOID:3021 acute kidney failure ISO RGD:10499 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (mouse) PMID:19967049|REF_RGD_ID:4144852 9005647 Edn1 endothelin 1 gene DOID:3021 acute kidney failure ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9788586 9005647 Edn1 endothelin 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:insertion, transversion:5' utr, exon:c.138_139insA, p.K198N (human) PMID:20707291|REF_RGD_ID:4144868 9005647 Edn1 endothelin 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:sputum (human) PMID:10445603|REF_RGD_ID:4145062 9005647 Edn1 endothelin 1 gene DOID:3393 coronary artery disease ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:atherosclerotic lesions (human) PMID:7968078|REF_RGD_ID:4144886 9005647 Edn1 endothelin 1 gene DOID:3393 coronary artery disease severity ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:missense mutation:cds:p.L198N (human) PMID:18923236|REF_RGD_ID:8661705 9005647 Edn1 endothelin 1 gene DOID:3393 coronary artery disease treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:11927217|REF_RGD_ID:8662294 9005647 Edn1 endothelin 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17197033 9005647 Edn1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:lung, airway epithelium, leukocyte (rat) PMID:9279246|REF_RGD_ID:4144892 9005647 Edn1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17235729 9005647 Edn1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730848 D RGD:9068941 20200609 RGD Cryptogenic Fibrosing Alveolitis; mRNA, protein:increased expression:lung, pneumocyte, airway epithelium (human) PMID:8099638|REF_RGD_ID:4144889 9005647 Edn1 endothelin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic; protein:increased expression:lung (human) PMID:9284832|REF_RGD_ID:4144866 9005647 Edn1 endothelin 1 gene DOID:4001 ovarian carcinoma ISO RGD:730848 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:ovarian tumor (human) PMID:9973223|REF_RGD_ID:4144954 9005647 Edn1 endothelin 1 gene DOID:418 systemic scleroderma ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:7653485|REF_RGD_ID:4145072 9005647 Edn1 endothelin 1 gene DOID:4248 coronary stenosis treatment ISO RGD:730848 D RGD:9068941 20200609 RGD PMID:10854676|REF_RGD_ID:8661796 9005647 Edn1 endothelin 1 gene DOID:4676 uremia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:11518857|REF_RGD_ID:8662310 9005647 Edn1 endothelin 1 gene DOID:5082 liver cirrhosis ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:20628429|REF_RGD_ID:4144843 9005647 Edn1 endothelin 1 gene DOID:5199 ureteral obstruction ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal tubule, renal interstitium (rat) PMID:12887768|REF_RGD_ID:8662268 9005647 Edn1 endothelin 1 gene DOID:5199 ureteral obstruction ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 9005647 Edn1 endothelin 1 gene DOID:5327 retinal detachment ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23974951|REF_RGD_ID:8661680 9005647 Edn1 endothelin 1 gene DOID:552 pneumonia severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:20529344|REF_RGD_ID:4144879 9005647 Edn1 endothelin 1 gene DOID:557 kidney disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10399635|PMID:15106802|PMID:8604712 9005647 Edn1 endothelin 1 gene DOID:5844 myocardial infarction ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle (rat) PMID:10573185|REF_RGD_ID:1580921 9005647 Edn1 endothelin 1 gene DOID:5844 myocardial infarction severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:17893002|REF_RGD_ID:4144880 9005647 Edn1 endothelin 1 gene DOID:5845 anterolateral myocardial infarction ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:aortic root, coronary sinus, plasma (human) PMID:12581682|REF_RGD_ID:8661757 9005647 Edn1 endothelin 1 gene DOID:6000 congestive heart failure ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:10199843|REF_RGD_ID:7244167 9005647 Edn1 endothelin 1 gene DOID:6000 congestive heart failure ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11136700|PMID:11707688|PMID:16360360|PMID:16762801|PMID:7967349|PMID:7969316|PMID:9861300 9005647 Edn1 endothelin 1 gene DOID:6000 congestive heart failure severity ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:8149524|REF_RGD_ID:4144845 9005647 Edn1 endothelin 1 gene DOID:6000 congestive heart failure treatment ISO RGD:730848 D RGD:9068941 20200609 RGD PMID:10973842|REF_RGD_ID:8661798 9005647 Edn1 endothelin 1 gene DOID:630 genetic disease ISO RGD:730848 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9005647 Edn1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:10499 D RGD:9068941 20200609 RGD Hypertension, Heritable Pulmonary Artery; mRNA:increased expression:bone marrow, macrophage (mouse) PMID:20562228|REF_RGD_ID:4144877 9005647 Edn1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:20889845|REF_RGD_ID:4144128 9005647 Edn1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12391278|PMID:20929026|PMID:20967148|PMID:7549228|PMID:9918753 9005647 Edn1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD Hypertension, Portopulmonary; protein:increased secretion:plasma (human) PMID:20498147|REF_RGD_ID:4144882 9005647 Edn1 endothelin 1 gene DOID:6432 pulmonary hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive; protein:increased secretion:plasma (human) PMID:20890431|REF_RGD_ID:4144865 9005647 Edn1 endothelin 1 gene DOID:6713 cerebrovascular disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17578707 9005647 Edn1 endothelin 1 gene DOID:7148 rheumatoid arthritis treatment ISO RGD:730848 D RGD:9068941 20200609 RGD PMID:22249931|REF_RGD_ID:8661695 9005647 Edn1 endothelin 1 gene DOID:750 peptic ulcer disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16384872 9005647 Edn1 endothelin 1 gene DOID:77 gastrointestinal system disease ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324314 9005647 Edn1 endothelin 1 gene DOID:783 end stage renal disease ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:8441230|REF_RGD_ID:4144849 9005647 Edn1 endothelin 1 gene DOID:8252 chronic rhinitis ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:inferior turbinate, nasal gland, inflammatory cell (human) PMID:8845175|REF_RGD_ID:8661738 9005647 Edn1 endothelin 1 gene DOID:8466 retinal degeneration ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:22729434|REF_RGD_ID:8661730 9005647 Edn1 endothelin 1 gene DOID:8466 retinal degeneration ISO RGD:10499 D RGD:9068941 20200609 RGD protein:altered expression:retinal pigment epithelium, outer plexiform layer, retinal astrocyte (mouse) PMID:16129094|REF_RGD_ID:8661732 9005647 Edn1 endothelin 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Coronary Artery Disease;protein:increased expression:coronary sinus, plasma (human) PMID:14556009|REF_RGD_ID:8661755 9005647 Edn1 endothelin 1 gene DOID:8947 diabetic retinopathy ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (rat) PMID:20628425|REF_RGD_ID:9068929 9005647 Edn1 endothelin 1 gene DOID:8947 diabetic retinopathy ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased secretion:plasma PMID:19293263|REF_RGD_ID:2313279 9005647 Edn1 endothelin 1 gene DOID:8947 diabetic retinopathy ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:exon:p.K198N (human) PMID:18806884|REF_RGD_ID:2313281 9005647 Edn1 endothelin 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:730848 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (human) PMID:12629276|REF_RGD_ID:4144854 9005647 Edn1 endothelin 1 gene DOID:900 hepatopulmonary syndrome ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:liver, plasma (rat) PMID:15185300|REF_RGD_ID:4144891 9005647 Edn1 endothelin 1 gene DOID:9000040 Hypertrophy ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12791704|PMID:20177073 9005647 Edn1 endothelin 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12011762|PMID:15838369 9005647 Edn1 endothelin 1 gene DOID:9000208 Auriculocondylar Syndrome ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9005647 Edn1 endothelin 1 gene DOID:9000307 Presbycusis susceptibility ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L198N (rs5370) (human) PMID:19358249|REF_RGD_ID:8661662 9005647 Edn1 endothelin 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8587695 9005647 Edn1 endothelin 1 gene DOID:9000590 Dyspnea ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:urine (human) PMID:18831711|REF_RGD_ID:4145071 9005647 Edn1 endothelin 1 gene DOID:9000641 Pain ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429182|PMID:20042899 9005647 Edn1 endothelin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15486036 9005647 Edn1 endothelin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:12941866|REF_RGD_ID:734914 9005647 Edn1 endothelin 1 gene DOID:9001090 Question Mark Ears, Isolated ISO RGD:730848 D RGD:7240710 20180130 OMIM 9005647 Edn1 endothelin 1 gene DOID:9001090 Question Mark Ears, Isolated ISO RGD:730848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Question mark ears, isolated PMID:23315542|PMID:24268655|PMID:28492532 9005647 Edn1 endothelin 1 gene DOID:9001443 Hypercapnia ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:8764295|REF_RGD_ID:4144902 9005647 Edn1 endothelin 1 gene DOID:9001443 Hypercapnia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:11230327|REF_RGD_ID:4144885 9005647 Edn1 endothelin 1 gene DOID:9001542 Albuminuria ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:renal papilla (rat) PMID:20666571|REF_RGD_ID:4144838 9005647 Edn1 endothelin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12609069 9005647 Edn1 endothelin 1 gene DOID:9001614 Chronic Tubulointerstitial Nephropathy ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (rat) PMID:9893116|REF_RGD_ID:8662387 9005647 Edn1 endothelin 1 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:transversion:exon:p.K198N rs5370 (human) PMID:19730395|REF_RGD_ID:4145063 9005647 Edn1 endothelin 1 gene DOID:9001650 Pregnancy-Induced Hypertension no_association ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:transversion:exon:p.K198N rs5370 (human) PMID:11593097|REF_RGD_ID:4145070 9005647 Edn1 endothelin 1 gene DOID:9001809 Urinary Retention ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15371886 9005647 Edn1 endothelin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730848 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased secretion:plasma (human) PMID:18346810|REF_RGD_ID:2313284 9005647 Edn1 endothelin 1 gene DOID:9002211 Hyperalgesia ISO RGD:10499 D RGD:9068941 20200609 RGD mRNA:increased expression:paw skin (mouse) PMID:23347081|REF_RGD_ID:8661716 9005647 Edn1 endothelin 1 gene DOID:9002211 Hyperalgesia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19429182 9005647 Edn1 endothelin 1 gene DOID:9002211 Hyperalgesia susceptibility ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:15664691|REF_RGD_ID:8661735 9005647 Edn1 endothelin 1 gene DOID:9002457 Experimental Arthritis ISO RGD:10499 D RGD:9068941 20200609 RGD mRNA:increased expression:inguinal lymph node (mouse) PMID:22249931|REF_RGD_ID:8661695 9005647 Edn1 endothelin 1 gene DOID:9002646 Auriculocondylar Syndrome 3 ISO RGD:730848 D RGD:7240710 20180130 OMIM 9005647 Edn1 endothelin 1 gene DOID:9002646 Auriculocondylar Syndrome 3 ISO RGD:730848 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Auriculocondylar syndrome 3 PMID:12244558|PMID:17357073|PMID:18288492|PMID:23315542|PMID:24268655|PMID:25741868|PMID:28492532 9005647 Edn1 endothelin 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20707411 9005647 Edn1 endothelin 1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:11430925|REF_RGD_ID:8662299 9005647 Edn1 endothelin 1 gene DOID:9003507 Premature Birth ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25230003 9005647 Edn1 endothelin 1 gene DOID:9003936 Cardiomegaly ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22198280 9005647 Edn1 endothelin 1 gene DOID:9003936 Cardiomegaly severity ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:heart ventricle, plasma (rat) PMID:7771559|REF_RGD_ID:8661803 9005647 Edn1 endothelin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:18722366|REF_RGD_ID:4892577 9005647 Edn1 endothelin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17470888 9005647 Edn1 endothelin 1 gene DOID:9004484 Sepsis ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple (rat) PMID:10838194|REF_RGD_ID:8662298 9005647 Edn1 endothelin 1 gene DOID:9004610 Acute Lung Injury ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16625121 9005647 Edn1 endothelin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle (rat) PMID:10543394|REF_RGD_ID:8661692 9005647 Edn1 endothelin 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10601118|PMID:15486036 9005647 Edn1 endothelin 1 gene DOID:9004616 Left Ventricular Hypertrophy treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:10601118|REF_RGD_ID:8662288 9005647 Edn1 endothelin 1 gene DOID:9005005 Oral Ulcer ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16391412 9005647 Edn1 endothelin 1 gene DOID:9005372 Inflammation ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23451061 9005647 Edn1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:18351623|REF_RGD_ID:2312288 9005647 Edn1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA:increased expression:heart, kidney, retina (rat) PMID:18516100|REF_RGD_ID:2313282 9005647 Edn1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12458661|PMID:12967931 9005647 Edn1 endothelin 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:18351623|REF_RGD_ID:2312288 9005647 Edn1 endothelin 1 gene DOID:9005930 Endotoxemia ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:11206318|REF_RGD_ID:8662297 9005647 Edn1 endothelin 1 gene DOID:9006024 Hypotension ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:20516397|REF_RGD_ID:4144881 9005647 Edn1 endothelin 1 gene DOID:9006024 Hypotension ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10399635|PMID:1309933 9005647 Edn1 endothelin 1 gene DOID:9007001 Bradycardia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1309933|PMID:8440307 9005647 Edn1 endothelin 1 gene DOID:9007095 Pneumoperitoneum ISO RGD:2532 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, peritubular capillary, proximal tubule (rat) PMID:11285964|REF_RGD_ID:8662302 9005647 Edn1 endothelin 1 gene DOID:9007096 Stroke ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20083630 9005647 Edn1 endothelin 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10462014|PMID:11707688|PMID:16306806 9005647 Edn1 endothelin 1 gene DOID:9007480 Hyperoxia ISO RGD:2532 D RGD:9068941 20200609 RGD protein:altered expression:lung (rat) PMID:20589171|REF_RGD_ID:4144857 9005647 Edn1 endothelin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194819 9005647 Edn1 endothelin 1 gene DOID:9007651 Chronic Bronchitis ISO RGD:10499 D RGD:9068941 20200609 RGD Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse) PMID:18631350|REF_RGD_ID:4145074 9005647 Edn1 endothelin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2532 D RGD:9068941 20200609 RGD PMID:18586023|REF_RGD_ID:4892580 9005647 Edn1 endothelin 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15642760|PMID:16700825 9005647 Edn1 endothelin 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18600494|REF_RGD_ID:4892579 9005647 Edn1 endothelin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:10499 D RGD:9068941 20200609 RGD PMID:8152482|REF_RGD_ID:734913 9005647 Edn1 endothelin 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10100047|PMID:20707411|PMID:8152482|PMID:9671575 9005647 Edn1 endothelin 1 gene DOID:9008848 Slow Coronary Flow ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma, coronary sinus, femoral artery (human) PMID:15336804|REF_RGD_ID:9684971 9005647 Edn1 endothelin 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10693666|PMID:9473106 9005647 Edn1 endothelin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased expression:mesenteric artery PMID:19286964|REF_RGD_ID:2313280 9005647 Edn1 endothelin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16387788 9005647 Edn1 endothelin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730848 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel endothelial cell PMID:19581418|REF_RGD_ID:2313278 9005647 Edn1 endothelin 1 gene DOID:9477 pulmonary embolism severity ISO RGD:2532 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (rat) PMID:20559433|REF_RGD_ID:4144858 9005647 Edn1 endothelin 1 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:23974951|REF_RGD_ID:8661680 9005647 Edn1 endothelin 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730848 D RGD:9068941 20200609 RGD protein:increased secretion:plasma (human) PMID:2198188|REF_RGD_ID:4144835 9005647 Edn1 endothelin 1 gene DOID:9970 obesity ISO RGD:730848 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.K198N (human) PMID:17444275|REF_RGD_ID:1625065 9005672 Nat10 N-acetyltransferase 10 gene DOID:1059 intellectual disability ISO RGD:1605376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9005672 Nat10 N-acetyltransferase 10 gene DOID:630 genetic disease ISO RGD:1605376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005705 Lgr5 leucine rich repeat containing G protein-coupled receptor 5 gene DOID:0060604 ankyloglossia ISO RGD:1550798 D RGD:9068941 20220825 MouseDO OMIM:106280 9005705 Lgr5 leucine rich repeat containing G protein-coupled receptor 5 gene DOID:630 genetic disease ISO RGD:1605118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005705 Lgr5 leucine rich repeat containing G protein-coupled receptor 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:1605118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 9005705 Lgr5 leucine rich repeat containing G protein-coupled receptor 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1605118 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25280562 9005725 Hsd17b1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:0060041 autism spectrum disorder ISO RGD:736216 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9005725 Hsd17b1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:736216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 9005725 Hsd17b1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:289 endometriosis ISO RGD:736216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815356 9005725 Hsd17b1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:3008 invasive ductal carcinoma severity ISO RGD:736216 D RGD:9068941 20200609 RGD protein:decreased expression:ductal breast carcinoma (human) PMID:10682658|REF_RGD_ID:4890946 9005725 Hsd17b1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:736216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005725 Hsd17b1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17507624 9005725 Hsd17b1 hydroxysteroid 17-beta dehydrogenase 1 gene DOID:9003281 Spontaneous Abortions ISO RGD:736216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9005735 Cdh5 cadherin 5 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1316531 D RGD:9068941 20230511 MouseDO 9005735 Cdh5 cadherin 5 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1316530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9005735 Cdh5 cadherin 5 gene DOID:0110255 cataract 5 multiple types ISO RGD:1316530 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 9005735 Cdh5 cadherin 5 gene DOID:12236 primary biliary cholangitis ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18422935 9005735 Cdh5 cadherin 5 gene DOID:1790 malignant mesothelioma ISO RGD:1316530 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 9005735 Cdh5 cadherin 5 gene DOID:3393 coronary artery disease ISO RGD:1316530 D RGD:9068941 20200609 RGD PMID:14695457|REF_RGD_ID:1598391 9005735 Cdh5 cadherin 5 gene DOID:3963 thyroid gland carcinoma treatment ISO RGD:1316530 D RGD:9068941 20220310 RGD PMID:32626543|REF_RGD_ID:151665104 9005735 Cdh5 cadherin 5 gene DOID:630 genetic disease ISO RGD:1316530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005735 Cdh5 cadherin 5 gene DOID:6432 pulmonary hypertension ISO RGD:1307370 D RGD:9068941 20200924 RGD protein:decreased expression:lung PMID:25593290|REF_RGD_ID:38500244 9005735 Cdh5 cadherin 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9005735 Cdh5 cadherin 5 gene DOID:9005527 No-Reflow Phenomenon ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16824628 9005735 Cdh5 cadherin 5 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1307370 D RGD:9068941 20200924 RGD protein:decreased expression:lung PMID:25593290|REF_RGD_ID:38500244 9005735 Cdh5 cadherin 5 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1316530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9005735 Cdh5 cadherin 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 9005735 Cdh5 cadherin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1316530 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 9005752 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1602724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia 9005752 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1602724 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia 9005752 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060279 pontocerebellar hypoplasia type 10 ISO RGD:1602724 D RGD:7240710 20180130 OMIM 9005752 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:0060279 pontocerebellar hypoplasia type 10 ISO RGD:1602724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 10 PMID:24766809|PMID:24766810|PMID:25741868|PMID:29307788 9005752 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:1059 intellectual disability ISO RGD:1602724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9005752 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:630 genetic disease ISO RGD:1602724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9005752 Clp1 cleavage factor polyribonucleotide kinase subunit 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602724 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9005781 CUNH2orf69 chromosome unknown C2orf69 homolog gene DOID:0070426 combined oxidative phosphorylation deficiency 53 ISO RGD:1603539 D RGD:7240710 20210721 OMIM 9005781 CUNH2orf69 chromosome unknown C2orf69 homolog gene DOID:0070426 combined oxidative phosphorylation deficiency 53 ISO RGD:1603539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 53 PMID:25741868|PMID:33945503|PMID:34038740 9005781 CUNH2orf69 chromosome unknown C2orf69 homolog gene DOID:630 genetic disease ISO RGD:1603539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005781 CUNH2orf69 chromosome unknown C2orf69 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9005788 Tsg101 tumor susceptibility 101 gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1349732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 9005788 Tsg101 tumor susceptibility 101 gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1349732 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 9005788 Tsg101 tumor susceptibility 101 gene DOID:10283 prostate cancer ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative forms:cds:multiple PMID:9444960|REF_RGD_ID:2291856 9005788 Tsg101 tumor susceptibility 101 gene DOID:1059 intellectual disability ISO RGD:1349732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9005788 Tsg101 tumor susceptibility 101 gene DOID:1612 breast cancer ISO RGD:1349732 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17369844|REF_RGD_ID:2291847 9005788 Tsg101 tumor susceptibility 101 gene DOID:1612 breast cancer disease_progression ISO RGD:1349732 D RGD:9068941 20200609 RGD DNA:deletion: :154_1054del PMID:10930114|REF_RGD_ID:2291848 9005788 Tsg101 tumor susceptibility 101 gene DOID:1612 breast cancer severity ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative forms:breast PMID:10618725|REF_RGD_ID:2291849 9005788 Tsg101 tumor susceptibility 101 gene DOID:2394 ovarian cancer disease_progression ISO RGD:1349732 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:17606716|REF_RGD_ID:2298534 9005788 Tsg101 tumor susceptibility 101 gene DOID:2870 endometrial adenocarcinoma ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative forms PMID:10027311|REF_RGD_ID:2291854 9005788 Tsg101 tumor susceptibility 101 gene DOID:2893 cervix carcinoma ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative form:uterine cervix PMID:10600297|REF_RGD_ID:2291851 9005788 Tsg101 tumor susceptibility 101 gene DOID:2893 cervix carcinoma ISO RGD:1349732 D RGD:9068941 20200609 RGD mRNA:alternative forms:uterine cervix:multiple PMID:10505033|REF_RGD_ID:2291852 9005788 Tsg101 tumor susceptibility 101 gene DOID:3459 breast carcinoma susceptibility ISO RGD:1349732 D RGD:9068941 20200609 RGD DNA:deletions PMID:9019400|REF_RGD_ID:1600429 9005788 Tsg101 tumor susceptibility 101 gene DOID:630 genetic disease ISO RGD:1349732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005788 Tsg101 tumor susceptibility 101 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1349732 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:9019400 9005810 Cldn10 claudin 10 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 9005810 Cldn10 claudin 10 gene DOID:1790 malignant mesothelioma ISO RGD:1317558 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:28377727 9005810 Cldn10 claudin 10 gene DOID:4500 hypokalemia ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokalemia PMID:25741868 9005810 Cldn10 claudin 10 gene DOID:630 genetic disease ISO RGD:1317558 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9005810 Cldn10 claudin 10 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9005810 Cldn10 claudin 10 gene DOID:9007180 HELIX syndrome ISO RGD:1317558 D RGD:7240710 20190315 OMIM 9005810 Cldn10 claudin 10 gene DOID:9007180 HELIX syndrome ISO RGD:1317558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HELIX syndrome PMID:25741868|PMID:25741903|PMID:28686597|PMID:28771254|PMID:32860008 9005840 Osbp2 oxysterol binding protein 2 gene DOID:4947 cholangiocarcinoma ISO RGD:1321446 D RGD:9068941 20210129 RGD mRNA:increased expression:blood PMID:21763455|REF_RGD_ID:41404644 9005840 Osbp2 oxysterol binding protein 2 gene DOID:630 genetic disease ISO RGD:1321446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005862 Col25a1 collagen type XXV alpha 1 chain gene DOID:0081020 congenital fibrosis of the extraocular muscles 5 ISO RGD:1603375 D RGD:7240710 20180130 OMIM 9005862 Col25a1 collagen type XXV alpha 1 chain gene DOID:0081020 congenital fibrosis of the extraocular muscles 5 ISO RGD:1603375 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 PMID:25500261|PMID:25741868|PMID:31875546 9005862 Col25a1 collagen type XXV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1603375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005901 Lyplal1 lysophospholipase like 1 gene DOID:0050439 Usher syndrome ISO RGD:1322525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 9005901 Lyplal1 lysophospholipase like 1 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1322525 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 9005901 Lyplal1 lysophospholipase like 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1322525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9005901 Lyplal1 lysophospholipase like 1 gene DOID:630 genetic disease ISO RGD:1322525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005901 Lyplal1 lysophospholipase like 1 gene DOID:9006949 Martsolf Syndrome ISO RGD:1322525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:23420520|PMID:28492532 9005901 Lyplal1 lysophospholipase like 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9005915 Dcp1b decapping mRNA 1B gene DOID:2843 long QT syndrome ISO RGD:1348381 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 9005915 Dcp1b decapping mRNA 1B gene DOID:630 genetic disease ISO RGD:1348381 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005915 Dcp1b decapping mRNA 1B gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348381 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0080562 congenital disorder of glycosylation Ij ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J PMID:22742743|PMID:28492532 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0080690 RASopathy ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:22742743|PMID:28492532 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0110676 congenital myasthenic syndrome 13 ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates PMID:22742743|PMID:28492532 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:1314115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:10283 prostate cancer ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:5419 schizophrenia ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:630 genetic disease ISO RGD:1314115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9005928 Abcg4 ATP binding cassette subfamily G member 4 gene DOID:9007661 Dwarfism ISO RGD:1314115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9005946 Akap5 A-kinase anchoring protein 5 gene DOID:0080600 COVID-19 ISO RGD:1345297 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9005946 Akap5 A-kinase anchoring protein 5 gene DOID:10652 Alzheimer's disease ISO RGD:1345297 D RGD:9068941 20200609 RGD protein:increased expression:cell soma, dendritic arbor (human) PMID:10460255|REF_RGD_ID:2313287 9005946 Akap5 A-kinase anchoring protein 5 gene DOID:630 genetic disease ISO RGD:1345297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005946 Akap5 A-kinase anchoring protein 5 gene DOID:9003936 Cardiomegaly ISO RGD:1345297 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11248077 9005946 Akap5 A-kinase anchoring protein 5 gene DOID:9003936 Cardiomegaly ISO RGD:1345297 D RGD:9068941 20200609 RGD human gene, mouse model PMID:11248077|REF_RGD_ID:2313290 9005946 Akap5 A-kinase anchoring protein 5 gene DOID:9008023 Memory Disorders ISO RGD:1345297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711127 9005946 Akap5 A-kinase anchoring protein 5 gene DOID:9008449 Tetany ISO RGD:620829 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:12542670|REF_RGD_ID:2313247 9005946 Akap5 A-kinase anchoring protein 5 gene DOID:9923 developmental coordination disorder ISO RGD:1345297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711127 9005974 Upb1 beta-ureidopropionase 1 gene DOID:0014667 disease of metabolism ISO RGD:734439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18853477 9005974 Upb1 beta-ureidopropionase 1 gene DOID:0050562 West syndrome ISO RGD:734439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18853477 9005974 Upb1 beta-ureidopropionase 1 gene DOID:10608 celiac disease ISO RGD:734439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 9005974 Upb1 beta-ureidopropionase 1 gene DOID:12849 autistic disorder ISO RGD:734439 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18853477 9005974 Upb1 beta-ureidopropionase 1 gene DOID:1826 epilepsy ISO RGD:734439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9005974 Upb1 beta-ureidopropionase 1 gene DOID:5419 schizophrenia ISO RGD:734439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9005974 Upb1 beta-ureidopropionase 1 gene DOID:630 genetic disease ISO RGD:734439 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11783491|PMID:15385443|PMID:16199547|PMID:17065070|PMID:22525402|PMID:24526388|PMID:25741868|PMID:28492532|PMID:30608453|PMID:35151535|PMID:35926322 9005974 Upb1 beta-ureidopropionase 1 gene DOID:9000223 Beta-Ureidopropionase Deficiency ISO RGD:734439 D RGD:7240710 20180130 OMIM 9005974 Upb1 beta-ureidopropionase 1 gene DOID:9000223 Beta-Ureidopropionase Deficiency ISO RGD:734439 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Beta-ureidopropionase deficiency PMID:11783491|PMID:15385443|PMID:16199547|PMID:17065070|PMID:17964839|PMID:22525402|PMID:23238479|PMID:24033266|PMID:24123366|PMID:24526388|PMID:25236466|PMID:25445412|PMID:25638458|PMID:25741868|PMID:27553092|PMID:28492532|PMID:30109123|PMID:30608453|PMID:31180159|PMID:35151535|PMID:35926322 9005988 Lmntd1 lamin tail domain containing 1 gene DOID:630 genetic disease ISO RGD:1602644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9005988 Lmntd1 lamin tail domain containing 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1602644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15064703 9006014 Chpt1 choline phosphotransferase 1 gene DOID:0070176 spermatogenic failure 4 ISO RGD:1349185 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 4 PMID:28492532 9006014 Chpt1 choline phosphotransferase 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349185 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16292752 9006014 Chpt1 choline phosphotransferase 1 gene DOID:3343 glycoproteinosis ISO RGD:1349185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:16200072|PMID:16465621|PMID:16630736|PMID:19634183|PMID:25741868|PMID:27662472|PMID:28492532 9006014 Chpt1 choline phosphotransferase 1 gene DOID:630 genetic disease ISO RGD:1349185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006026 Atg101 autophagy related 101 gene DOID:219 colon cancer disease_progression ISO RGD:1602213 D RGD:9068941 20220908 RGD PMID:34315829|REF_RGD_ID:153350092 9006026 Atg101 autophagy related 101 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1602213 D RGD:9068941 20220908 RGD PMID:35592424|REF_RGD_ID:153350091 9006026 Atg101 autophagy related 101 gene DOID:630 genetic disease ISO RGD:1602213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006026 Atg101 autophagy related 101 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1602213 D RGD:9068941 20220908 RGD PMID:35592424|REF_RGD_ID:153350091 9006026 Atg101 autophagy related 101 gene DOID:9005172 Lung Neoplasms ISO RGD:1602213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 9006043 Spata20 spermatogenesis associated 20 gene DOID:0070311 oligoasthenoteratozoospermia ISO RGD:1623815 D RGD:9068941 20220825 MouseDO 9006043 Spata20 spermatogenesis associated 20 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1603970 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 9006043 Spata20 spermatogenesis associated 20 gene DOID:630 genetic disease ISO RGD:1603970 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006063 Ptcd2 pentatricopeptide repeat domain 2 gene DOID:630 genetic disease ISO RGD:1321137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006063 Ptcd2 pentatricopeptide repeat domain 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321137 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:732024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:11136556|PMID:11978605|PMID:12468279|PMID:12557293|PMID:15108290|PMID:15651030|PMID:16054853|PMID:16169544|PMID:16199547|PMID:16855203|PMID:17101918|PMID:17171576|PMID:17336114|PMID:17576681|PMID:19027335|PMID:19288536|PMID:19388150|PMID:19892372|PMID:20301745|PMID:21140503|PMID:22019491|PMID:23031365|PMID:23234264|PMID:23583224|PMID:23660394|PMID:24071436|PMID:24268530|PMID:24276113|PMID:24415674|PMID:24440240|PMID:2476685|PMID:25741868|PMID:26003046|PMID:26319512|PMID:26467025|PMID:27233226|PMID:27650626|PMID:27848944|PMID:28055022|PMID:28438604|PMID:28492532|PMID:28600779|PMID:29506905|PMID:29655203|PMID:31130284|PMID:31222513|PMID:32214227|PMID:34389248|PMID:8651275|PMID:9386672|PMID:9536098 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:732024 D RGD:7240710 20180130 OMIM 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:0050799 guanidinoacetate methyltransferase deficiency ISO RGD:732024 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT-related condition PMID:11136556|PMID:11978605|PMID:12468279|PMID:12557293|PMID:15108290|PMID:15651030|PMID:16054853|PMID:16169544|PMID:16199547|PMID:16855203|PMID:17101918|PMID:17171576|PMID:17336114|PMID:17576681|PMID:19027335|PMID:19288536|PMID:19388150|PMID:19892372|PMID:20301745|PMID:21140503|PMID:22019491|PMID:23031365|PMID:23234264|PMID:23583224|PMID:23660394|PMID:23846910|PMID:24071436|PMID:24268530|PMID:24276113|PMID:24415674|PMID:24440240|PMID:2476685|PMID:25741868|PMID:26003046|PMID:26319512|PMID:26467025|PMID:27233226|PMID:27650626|PMID:28055022|PMID:28438604|PMID:28492532|PMID:29506905|PMID:29655203|PMID:31130284|PMID:31222513|PMID:32214227|PMID:33996490|PMID:34015165|PMID:34389248|PMID:8651275|PMID:9386672|PMID:9536098 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:732024 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:732024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:1059 intellectual disability ISO RGD:732024 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:15108290|PMID:16199547|PMID:24415674|PMID:25741868|PMID:26467025|PMID:28492532 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:10591 pre-eclampsia ISO RGD:732024 D RGD:9068941 20230720 RGD mRNA:increased expression:placenta PMID:31991880|REF_RGD_ID:329961300 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:1826 epilepsy ISO RGD:732024 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:10618 D RGD:9068941 20230713 RGD DNA:deletion PMID:24004504|REF_RGD_ID:329955375 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:3652 Leigh disease ISO RGD:732024 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:5339 cyclic hematopoiesis ISO RGD:732024 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:630 genetic disease ISO RGD:732024 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11978605|PMID:12468279|PMID:15108290|PMID:15651030|PMID:16855203|PMID:17171576|PMID:17336114|PMID:17576681|PMID:19027335|PMID:20301745|PMID:21140503|PMID:22019491|PMID:23031365|PMID:23234264|PMID:23583224|PMID:23660394|PMID:24071436|PMID:24268530|PMID:24276113|PMID:24415674|PMID:24440240|PMID:2476685|PMID:25741868|PMID:26003046|PMID:26319512|PMID:26467025|PMID:27233226|PMID:28055022|PMID:28492532|PMID:29506905|PMID:8651275|PMID:9386672|PMID:9536098 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:732024 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:11978605|PMID:12468279|PMID:20301745|PMID:25741868|PMID:28492532 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:9006534 Nervous System Malformations ISO RGD:732024 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:15108290|PMID:21140503|PMID:24415674|PMID:25741868|PMID:28492532|PMID:29506905 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:9252 amino acid metabolic disorder ISO RGD:732024 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15651030 9006080 Gamt guanidinoacetate N-methyltransferase gene DOID:9252 amino acid metabolic disorder ISO RGD:732024 D RGD:9068941 20200609 RGD GAMT deficiency,OMIM:601240;DNA:point mutation, DNA:deletion PMID:8651275|REF_RGD_ID:1601275 9006095 Esyt2 extended synaptotagmin 2 gene DOID:12849 autistic disorder ISO RGD:1606520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9006095 Esyt2 extended synaptotagmin 2 gene DOID:5419 schizophrenia ISO RGD:1606520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9006095 Esyt2 extended synaptotagmin 2 gene DOID:630 genetic disease ISO RGD:1606520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006122 Trim45 tripartite motif containing 45 gene DOID:630 genetic disease ISO RGD:1319359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006139 Itga5 integrin subunit alpha 5 gene DOID:1749 squamous cell carcinoma ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21401805 9006139 Itga5 integrin subunit alpha 5 gene DOID:630 genetic disease ISO RGD:1351478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006139 Itga5 integrin subunit alpha 5 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17786296 9006139 Itga5 integrin subunit alpha 5 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1351478 D RGD:9068941 20200924 RGD mRNA:increased expression:lung PMID:25593290|REF_RGD_ID:38500244 9006139 Itga5 integrin subunit alpha 5 gene DOID:9002211 Hyperalgesia ISO RGD:2925 D RGD:9068941 20200609 RGD epinephrine-induced PMID:14984413|REF_RGD_ID:2302389 9006139 Itga5 integrin subunit alpha 5 gene DOID:9002211 Hyperalgesia ISO RGD:2925 D RGD:9068941 20200609 RGD knock-down using a specific monoclonal antibody or RNAi PMID:15836982|REF_RGD_ID:2302139 9006139 Itga5 integrin subunit alpha 5 gene DOID:9004009 Reperfusion Injury ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 9006139 Itga5 integrin subunit alpha 5 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224397 9006139 Itga5 integrin subunit alpha 5 gene DOID:9007402 Gliosis ISO RGD:1351478 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 9006180 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:731281 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 9006180 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:731281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 9006180 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:731281 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 9006180 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:1059 intellectual disability ISO RGD:731281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9006180 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:1826 epilepsy ISO RGD:731281 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 9006180 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:630 genetic disease ISO RGD:731281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006180 Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:731281 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750348 9006207 Zbtb43 zinc finger and BTB domain containing 43 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9006207 Zbtb43 zinc finger and BTB domain containing 43 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1321100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9006207 Zbtb43 zinc finger and BTB domain containing 43 gene DOID:0080600 COVID-19 ISO RGD:1321100 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9006207 Zbtb43 zinc finger and BTB domain containing 43 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9006207 Zbtb43 zinc finger and BTB domain containing 43 gene DOID:630 genetic disease ISO RGD:1321100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006207 Zbtb43 zinc finger and BTB domain containing 43 gene DOID:9467 nail-patella syndrome ISO RGD:1321100 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nail-patella syndrome PMID:18414507 9006213 Disp3 dispatched RND transporter family member 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 9006213 Disp3 dispatched RND transporter family member 3 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603018 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9006213 Disp3 dispatched RND transporter family member 3 gene DOID:630 genetic disease ISO RGD:1603018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006213 Disp3 dispatched RND transporter family member 3 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1603018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 9006238 Togaram1 TOG array regulator of axonemal microtubules 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1321397 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:32453716|PMID:32747439 9006238 Togaram1 TOG array regulator of axonemal microtubules 1 gene DOID:13636 Fanconi anemia ISO RGD:1321397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 9006238 Togaram1 TOG array regulator of axonemal microtubules 1 gene DOID:630 genetic disease ISO RGD:1321397 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006238 Togaram1 TOG array regulator of axonemal microtubules 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1321397 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9006238 Togaram1 TOG array regulator of axonemal microtubules 1 gene DOID:9007319 Joubert Syndrome 37 ISO RGD:1321397 D RGD:7240710 20210303 OMIM 9006238 Togaram1 TOG array regulator of axonemal microtubules 1 gene DOID:9007319 Joubert Syndrome 37 ISO RGD:1321397 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Joubert syndrome 37 PMID:25741868|PMID:32453716|PMID:32747439 9006267 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1348893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:18414213|PMID:25741868|PMID:28492532 9006267 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1348893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1B PMID:18414213|PMID:25741868|PMID:28492532 9006267 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:0060269 pontocerebellar hypoplasia type 2C ISO RGD:1348893 D RGD:7240710 20180130 OMIM 9006267 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:0060269 pontocerebellar hypoplasia type 2C ISO RGD:1348893 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2C PMID:18414213|PMID:18711368|PMID:20301773|PMID:25741868|PMID:28492532 9006267 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:0081219 autosomal recessive intellectual developmental disorder 57 ISO RGD:1348893 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 57 PMID:25741868 9006267 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:1059 intellectual disability ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 9006267 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:10907 microcephaly ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 9006267 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:480 movement disease ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 9006267 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:630 genetic disease ISO RGD:1348893 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9006267 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:9000123 Deglutition Disorders ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 9006267 Tsen34 tRNA splicing endonuclease subunit 34 gene DOID:9000343 Vision Disorders ISO RGD:1348893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 9006287 Cryba1 crystallin beta A1 gene DOID:0110014 age related macular degeneration 1 ISO RGD:736651 D RGD:9068941 20220825 MouseDO OMIM:603075 9006287 Cryba1 crystallin beta A1 gene DOID:0110258 cataract 10 multiple types ISO RGD:736650 D RGD:7240710 20180130 OMIM 9006287 Cryba1 crystallin beta A1 gene DOID:0110258 cataract 10 multiple types ISO RGD:736650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract 10 multiple types PMID:11006214|PMID:14598164|PMID:14693780|PMID:16199547|PMID:17576681|PMID:20142846|PMID:21139983|PMID:21850182|PMID:21866213|PMID:22919269|PMID:24281366|PMID:25741868|PMID:26851658|PMID:28492532|PMID:9536098|PMID:9788845 9006287 Cryba1 crystallin beta A1 gene DOID:0111253 neurofibromatosis 1 ISO RGD:736650 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 9006287 Cryba1 crystallin beta A1 gene DOID:10629 microphthalmia ISO RGD:2415 D RGD:9068941 20210521 RGD PMID:15721615|REF_RGD_ID:126925760 9006287 Cryba1 crystallin beta A1 gene DOID:5327 retinal detachment ISO RGD:2415 D RGD:9068941 20200918 RGD PMID:26303524|REF_RGD_ID:38676460 9006287 Cryba1 crystallin beta A1 gene DOID:630 genetic disease ISO RGD:736650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11006214|PMID:14693780|PMID:21139983|PMID:21866213|PMID:22919269|PMID:25741868|PMID:26851658|PMID:28492532|PMID:9788845 9006287 Cryba1 crystallin beta A1 gene DOID:83 cataract ISO RGD:2415 D RGD:9068941 20210521 RGD PMID:15721615|PMID:17931883|REF_RGD_ID:126925760|REF_RGD_ID:2303652 9006287 Cryba1 crystallin beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:IVS3+1G>A(human) PMID:20142846|REF_RGD_ID:10059642 9006287 Cryba1 crystallin beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:IVS3+1G>T(human) PMID:21850182|REF_RGD_ID:10059641 9006287 Cryba1 crystallin beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron:c.215+1G>A (human) PMID:22919269|REF_RGD_ID:10059634 9006287 Cryba1 crystallin beta A1 gene DOID:83 cataract ISO RGD:736650 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;mRNA,protein:increased expression:lens: PMID:24520233|REF_RGD_ID:10059653 9006287 Cryba1 crystallin beta A1 gene DOID:9005232 Reticular Dystrophy of Retinal Pigment Epithelium ISO RGD:2415 D RGD:9068941 20210521 RGD mRNA:increased expression:retinal pigmented epithelium (rat) PMID:21266465|REF_RGD_ID:126925759 9006287 Cryba1 crystallin beta A1 gene DOID:9008035 Cataract, Autosomal Dominant Nuclear ISO RGD:736650 D RGD:9068941 20200609 RGD DNA:splice-site mutaion:intron: IVS3+2 T>G (human) PMID:22665976|REF_RGD_ID:10059638 9006287 Cryba1 crystallin beta A1 gene DOID:9282 ocular hypertension ISO RGD:2415 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina PMID:17102796|REF_RGD_ID:1601004 9006297 Nfatc3 nuclear factor of activated T cells 3 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1318613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9006297 Nfatc3 nuclear factor of activated T cells 3 gene DOID:10126 keratoconus ISO RGD:1318613 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 9006297 Nfatc3 nuclear factor of activated T cells 3 gene DOID:630 genetic disease ISO RGD:1318613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006297 Nfatc3 nuclear factor of activated T cells 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1615176 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 9006297 Nfatc3 nuclear factor of activated T cells 3 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1615176 D RGD:9068941 20200609 RGD PMID:9568714|REF_RGD_ID:1579956 9006316 Hnrnpr heterogeneous nuclear ribonucleoprotein R gene DOID:630 genetic disease ISO RGD:736504 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16757948|PMID:26795593|PMID:28492532|PMID:31079900|PMID:9421497 9006316 Hnrnpr heterogeneous nuclear ribonucleoprotein R gene DOID:9001294 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES ISO RGD:736504 D RGD:7240710 20221214 OMIM 9006316 Hnrnpr heterogeneous nuclear ribonucleoprotein R gene DOID:9001294 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES ISO RGD:736504 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities PMID:16757948|PMID:25741868|PMID:26795593|PMID:31079900|PMID:9421497 9006316 Hnrnpr heterogeneous nuclear ribonucleoprotein R gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:736504 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9006316 Hnrnpr heterogeneous nuclear ribonucleoprotein R gene DOID:9008939 Breast Neoplasms ISO RGD:736504 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:0111940 immunodeficiency 42 ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:10763 hypertension treatment ISO RGD:2153 D RGD:9068941 20230824 RGD PMID:23528973|PMID:31489946|REF_RGD_ID:401793732|REF_RGD_ID:401793758 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:1540 parathyroid carcinoma ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:1909 melanoma ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983785 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:289 endometriosis ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:4450 renal cell carcinoma treatment ISO RGD:732739 D RGD:9068941 20200609 RGD DNA:missense mutation: :pF446L (human) PMID:27595394|REF_RGD_ID:13503335 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:5082 liver cirrhosis ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22271822 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:5812 MHC class II deficiency ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:630 genetic disease ISO RGD:732739 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2153 D RGD:9068941 20230817 RGD mRNA:increased expression:liver, visceral adipose tissue (rat) PMID:32416216|REF_RGD_ID:401793731 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:2153 D RGD:9068941 20230824 RGD PMID:31489946|REF_RGD_ID:401793758 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9002170 Experimental Neoplasms ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9496914 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:2153 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9003281 Spontaneous Abortions ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9003936 Cardiomegaly treatment ISO RGD:2153 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20935161 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9008443 Colorectal Neoplasms ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21081473 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732739 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9352 type 2 diabetes mellitus ISO RGD:732739 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet PMID:16096055|REF_RGD_ID:2313995 9006345 Arnt aryl hydrocarbon receptor nuclear translocator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732739 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 9006379 Taf5l TATA-box binding protein associated factor 5 like gene DOID:1540 parathyroid carcinoma ISO RGD:1320985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9006379 Taf5l TATA-box binding protein associated factor 5 like gene DOID:630 genetic disease ISO RGD:1320985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006379 Taf5l TATA-box binding protein associated factor 5 like gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1320985 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 9006379 Taf5l TATA-box binding protein associated factor 5 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9006410 Map1lc3c microtubule associated protein 1 light chain 3 gamma gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606859 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 9006410 Map1lc3c microtubule associated protein 1 light chain 3 gamma gene DOID:0111261 fumarase deficiency ISO RGD:1606859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12761039|PMID:21398687|PMID:22069215|PMID:28300276|PMID:28492532 9006410 Map1lc3c microtubule associated protein 1 light chain 3 gamma gene DOID:1540 parathyroid carcinoma ISO RGD:1606859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9006410 Map1lc3c microtubule associated protein 1 light chain 3 gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9006410 Map1lc3c microtubule associated protein 1 light chain 3 gamma gene DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer ISO RGD:1606859 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:29909963 9006410 Map1lc3c microtubule associated protein 1 light chain 3 gamma gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9006420 Lpar2 lysophosphatidic acid receptor 2 gene DOID:630 genetic disease ISO RGD:1312931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006428 Tdrp testis development related protein gene DOID:630 genetic disease ISO RGD:1602978 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006438 Celf4 CUGBP Elav-like family member 4 gene DOID:1059 intellectual disability ISO RGD:1316936 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9006438 Celf4 CUGBP Elav-like family member 4 gene DOID:2661 myoepithelioma ISO RGD:1316936 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9006438 Celf4 CUGBP Elav-like family member 4 gene DOID:630 genetic disease ISO RGD:1316936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14973222 9006438 Celf4 CUGBP Elav-like family member 4 gene DOID:9008582 Developmental Disease ISO RGD:1316936 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9006469 Myh14 myosin heavy chain 14 gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISO RGD:1315652 D RGD:7240710 20180130 OMIM 9006469 Myh14 myosin heavy chain 14 gene DOID:0110573 autosomal dominant nonsyndromic deafness 4A ISO RGD:1315652 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition PMID:15015131|PMID:15845534|PMID:16222661|PMID:20533261|PMID:23967202|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26284702|PMID:26346818|PMID:26467025|PMID:27393652|PMID:28166811|PMID:28221712|PMID:28492532|PMID:30311386|PMID:30828794|PMID:31231018 9006469 Myh14 myosin heavy chain 14 gene DOID:10003 sensorineural hearing loss ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 9006469 Myh14 myosin heavy chain 14 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868 9006469 Myh14 myosin heavy chain 14 gene DOID:630 genetic disease ISO RGD:1315652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 9006469 Myh14 myosin heavy chain 14 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9006469 Myh14 myosin heavy chain 14 gene DOID:9002779 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss ISO RGD:1315652 D RGD:7240710 20180130 OMIM 9006469 Myh14 myosin heavy chain 14 gene DOID:9002779 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss ISO RGD:1315652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss PMID:21480433|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25741868|PMID:26257172|PMID:26346818|PMID:26752647|PMID:27393652|PMID:27911912|PMID:28492532|PMID:30311386|PMID:31231018|PMID:35274842 9006469 Myh14 myosin heavy chain 14 gene DOID:9004538 Hearing Loss ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:24033266|PMID:25741868|PMID:27393652|PMID:28492532|PMID:30311386 9006469 Myh14 myosin heavy chain 14 gene DOID:9004538 Hearing Loss ISO RGD:1315652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:27393652|PMID:28492532|PMID:29293505|PMID:30311386 9006469 Myh14 myosin heavy chain 14 gene DOID:9005230 Autosomal Dominant Deafness 4 ISO RGD:1315652 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 4 PMID:15015131|PMID:15845534|PMID:16222661|PMID:20533261|PMID:23967202|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26284702|PMID:26346818|PMID:26467025|PMID:27393652|PMID:28166811|PMID:28221712|PMID:28492532|PMID:30311386|PMID:30828794|PMID:31231018 9006469 Myh14 myosin heavy chain 14 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:1315652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:28492532 9006531 Rilpl2 Rab interacting lysosomal protein like 2 gene DOID:630 genetic disease ISO RGD:1606943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006538 Cgn cingulin gene DOID:0060041 autism spectrum disorder ISO RGD:1323740 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9006538 Cgn cingulin gene DOID:0080422 Dravet syndrome ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 9006538 Cgn cingulin gene DOID:0111940 immunodeficiency 42 ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9006538 Cgn cingulin gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9006538 Cgn cingulin gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1323740 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9006538 Cgn cingulin gene DOID:1540 parathyroid carcinoma ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9006538 Cgn cingulin gene DOID:5812 MHC class II deficiency ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9006538 Cgn cingulin gene DOID:630 genetic disease ISO RGD:1323740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006538 Cgn cingulin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323740 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9006586 Zbtb41 zinc finger and BTB domain containing 41 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1603485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 9006586 Zbtb41 zinc finger and BTB domain containing 41 gene DOID:1540 parathyroid carcinoma ISO RGD:1603485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9006586 Zbtb41 zinc finger and BTB domain containing 41 gene DOID:630 genetic disease ISO RGD:1603485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006586 Zbtb41 zinc finger and BTB domain containing 41 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9006604 Cmtm8 CKLF like MARVEL transmembrane domain containing 8 gene DOID:630 genetic disease ISO RGD:1351246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006631 Haus5 HAUS augmin like complex subunit 5 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1317198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 9006631 Haus5 HAUS augmin like complex subunit 5 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1317198 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9006631 Haus5 HAUS augmin like complex subunit 5 gene DOID:543 dystonia ISO RGD:1317198 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 9006631 Haus5 HAUS augmin like complex subunit 5 gene DOID:630 genetic disease ISO RGD:1317198 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006661 Ascc3 activating signal cointegrator 1 complex subunit 3 gene DOID:0080600 COVID-19 ISO RGD:1344771 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9006661 Ascc3 activating signal cointegrator 1 complex subunit 3 gene DOID:0081337 congenital myopathy ISO RGD:1344771 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:25741868 9006661 Ascc3 activating signal cointegrator 1 complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1344771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 9006661 Ascc3 activating signal cointegrator 1 complex subunit 3 gene DOID:630 genetic disease ISO RGD:1344771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006661 Ascc3 activating signal cointegrator 1 complex subunit 3 gene DOID:9008488 Autosomal Recessive Intellectual Developmental Disorder 81 ISO RGD:1344771 D RGD:7240710 20240207 OMIM 9006661 Ascc3 activating signal cointegrator 1 complex subunit 3 gene DOID:9008488 Autosomal Recessive Intellectual Developmental Disorder 81 ISO RGD:1344771 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 81 PMID:21937992|PMID:35047834 9006740 Xpo7 exportin 7 gene DOID:0060224 atrial fibrillation ISO RGD:1322111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 9006740 Xpo7 exportin 7 gene DOID:630 genetic disease ISO RGD:1322111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006776 Rap1gap2 RAP1 GTPase activating protein 2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1346377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome PMID:25741868 9006776 Rap1gap2 RAP1 GTPase activating protein 2 gene DOID:630 genetic disease ISO RGD:1346377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006846 Kansl2 KAT8 regulatory NSL complex subunit 2 gene DOID:1059 intellectual disability ISO RGD:1606280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9006846 Kansl2 KAT8 regulatory NSL complex subunit 2 gene DOID:630 genetic disease ISO RGD:1606280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006864 Rpl12 ribosomal protein L12 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9006864 Rpl12 ribosomal protein L12 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1314871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9006864 Rpl12 ribosomal protein L12 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314871 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9006864 Rpl12 ribosomal protein L12 gene DOID:630 genetic disease ISO RGD:1314871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006864 Rpl12 ribosomal protein L12 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9006864 Rpl12 ribosomal protein L12 gene DOID:9074 systemic lupus erythematosus ISO RGD:1314871 D RGD:9068941 20200609 RGD PMID:11161982|REF_RGD_ID:11035232 9006878 Erp27 endoplasmic reticulum protein 27 gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605301 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 9006878 Erp27 endoplasmic reticulum protein 27 gene DOID:630 genetic disease ISO RGD:1605301 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006889 Mov10 Mov10 RNA helicase gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1321654 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 9006889 Mov10 Mov10 RNA helicase gene DOID:10763 hypertension susceptibility ISO RGD:1321654 D RGD:9068941 20200609 RGD DNA:SNP: :rs2932538(human) PMID:24338417|REF_RGD_ID:13513987 9006889 Mov10 Mov10 RNA helicase gene DOID:13938 amenorrhea ISO RGD:1321654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9006889 Mov10 Mov10 RNA helicase gene DOID:5426 primary ovarian insufficiency ISO RGD:1321654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9006889 Mov10 Mov10 RNA helicase gene DOID:630 genetic disease ISO RGD:1321654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006919 Klf3 KLF transcription factor 3 gene DOID:630 genetic disease ISO RGD:1343244 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006941 Trip10 thyroid hormone receptor interactor 10 gene DOID:0080490 mucolipidosis type IV ISO RGD:732056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 9006941 Trip10 thyroid hormone receptor interactor 10 gene DOID:12858 Huntington's disease ISO RGD:732056 D RGD:9068941 20200609 RGD protein:increased expression:striatum PMID:12604778|REF_RGD_ID:11535137 9006941 Trip10 thyroid hormone receptor interactor 10 gene DOID:630 genetic disease ISO RGD:732056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006941 Trip10 thyroid hormone receptor interactor 10 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621145 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:26097534|REF_RGD_ID:11535148 9006970 Capn13 calpain 13 gene DOID:630 genetic disease ISO RGD:1349624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9006993 Sppl3 signal peptide peptidase like 3 gene DOID:630 genetic disease ISO RGD:1605007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007016 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:0060041 autism spectrum disorder ISO RGD:1351632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9007016 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28220687 9007016 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:0080600 COVID-19 ISO RGD:1351632 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9007016 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:1059 intellectual disability ISO RGD:1351632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9007016 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:12849 autistic disorder ISO RGD:1351632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:25741868 9007016 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:630 genetic disease ISO RGD:1351632 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10940247|PMID:25017102|PMID:25741868|PMID:28462983|PMID:28492532|PMID:31321892|PMID:32565546 9007016 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9000217 Stomach Neoplasms ISO RGD:1351632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037551 9007016 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9001681 Primrose Syndrome ISO RGD:1351632 D RGD:7240710 20180130 OMIM 9007016 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9001681 Primrose Syndrome ISO RGD:1351632 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primrose syndrome PMID:21567911|PMID:21910247|PMID:25017102|PMID:25741868|PMID:28327206|PMID:28492532|PMID:29737001|PMID:30256248|PMID:30637921|PMID:32071410 9007016 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351632 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 9007016 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351632 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9007016 Zbtb20 zinc finger and BTB domain containing 20 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1351632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9007068 Znf740 zinc finger protein 740 gene DOID:630 genetic disease ISO RGD:1603524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007093 Dnah12 dynein axonemal heavy chain 12 gene DOID:11372 megacolon ISO RGD:1603257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9007093 Dnah12 dynein axonemal heavy chain 12 gene DOID:630 genetic disease ISO RGD:1603257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007093 Dnah12 dynein axonemal heavy chain 12 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1603257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 9007174 Ankrd34b ankyrin repeat domain 34B gene DOID:630 genetic disease ISO RGD:1604706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007174 Ankrd34b ankyrin repeat domain 34B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9007183 CUNHXorf58 chromosome unknown CXorf58 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9007183 CUNHXorf58 chromosome unknown CXorf58 homolog gene DOID:12849 autistic disorder ISO RGD:1605257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9007183 CUNHXorf58 chromosome unknown CXorf58 homolog gene DOID:630 genetic disease ISO RGD:1605257 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007183 CUNHXorf58 chromosome unknown CXorf58 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9007207 Ccl25 C-C motif chemokine ligand 25 gene DOID:0080490 mucolipidosis type IV ISO RGD:1313608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 9007207 Ccl25 C-C motif chemokine ligand 25 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1313608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 9007207 Ccl25 C-C motif chemokine ligand 25 gene DOID:10247 pleurisy ISO RGD:1313609 D RGD:9068941 20200609 RGD protein:increased expression:pleural fluid PMID:18056919|REF_RGD_ID:5130924 9007207 Ccl25 C-C motif chemokine ligand 25 gene DOID:12849 autistic disorder ISO RGD:1313608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9007207 Ccl25 C-C motif chemokine ligand 25 gene DOID:630 genetic disease ISO RGD:1313608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007207 Ccl25 C-C motif chemokine ligand 25 gene DOID:9004898 Jaundice ISO RGD:1305530 D RGD:9068941 20200609 RGD mRNA:decreased expression:ileum PMID:18592157|REF_RGD_ID:5130926 9007218 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:0070168 spermatogenic failure 3 ISO RGD:1313466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 9007218 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:0070181 spermatogenic failure 23 ISO RGD:1313466 D RGD:7240710 20190315 OMIM 9007218 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:0070181 spermatogenic failure 23 ISO RGD:1313466 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 23 PMID:25741868|PMID:28206990|PMID:28492532|PMID:29790874|PMID:31479588 9007218 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:0110980 Joubert syndrome 1 ISO RGD:1313466 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9007218 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1313466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 9007218 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:10283 prostate cancer ISO RGD:1313466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9007218 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1313466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 9007218 Tex14 testis expressed 14, intercellular bridge forming factor gene DOID:630 genetic disease ISO RGD:1313466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:0050741 alcohol dependence ISO RGD:6502812 D RGD:9068941 20210709 RGD PMID:21309953|REF_RGD_ID:14700679 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:0060041 autism spectrum disorder ISO RGD:619562 D RGD:9068941 20200609 RGD DNA:SNP: :rs28632197, rs35369693 (human) PMID:27920663|REF_RGD_ID:14700652 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:619562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:12849 autistic disorder ISO RGD:619562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:1540 parathyroid carcinoma ISO RGD:619562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:1596 depressive disorder no_association ISO RGD:619562 D RGD:9068941 20200609 RGD associated with bipolar disorder;DNA:SNP: :multiple PMID:23068076|REF_RGD_ID:14700671 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:1596 depressive disorder treatment ISO RGD:62179 D RGD:9068941 20200609 RGD PMID:26700241|REF_RGD_ID:14700672 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:1596 depressive disorder treatment ISO RGD:6502812 D RGD:9068941 20210709 RGD PMID:24654684|REF_RGD_ID:14700666 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:2030 anxiety disorder treatment ISO RGD:62179 D RGD:9068941 20200609 RGD PMID:21956463|REF_RGD_ID:14700676 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:2030 anxiety disorder treatment ISO RGD:6502812 D RGD:9068941 20210709 RGD PMID:24654684|REF_RGD_ID:14700666 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:3312 bipolar disorder ISO RGD:619562 D RGD:9068941 20200609 RGD DNA:SNP: :rs28536160 (human) PMID:24012103|REF_RGD_ID:14700651 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:3324 mood disorder ISO RGD:619562 D RGD:9068941 20200609 RGD DNA:SNP: :rs28536160 (human) PMID:23962971|REF_RGD_ID:11528373 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:3324 mood disorder no_association ISO RGD:619562 D RGD:9068941 20200609 RGD DNA:SNP: :rs28373064, 35369693, rs28632197 (human) PMID:23962971|REF_RGD_ID:11528373 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:3829 pituitary adenoma ISO RGD:619562 D RGD:9068941 20200609 RGD PMID:28692683|REF_RGD_ID:14700668 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:630 genetic disease ISO RGD:619562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:619562 D RGD:9068941 20200609 RGD PMID:23884782|REF_RGD_ID:14700670 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:619562 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:9005158 Cushing Syndrome ISO RGD:619562 D RGD:9068941 20200609 RGD PMID:23884782|REF_RGD_ID:14700670 9007267 Avpr1b arginine vasopressin receptor 1B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:619562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9007275 Tmem160 transmembrane protein 160 gene DOID:630 genetic disease ISO RGD:1606276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007281 Sft2d2 SFT2 domain containing 2 gene DOID:0111942 immunodeficiency 25 ISO RGD:1605217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 9007281 Sft2d2 SFT2 domain containing 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9007281 Sft2d2 SFT2 domain containing 2 gene DOID:630 genetic disease ISO RGD:1605217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007281 Sft2d2 SFT2 domain containing 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9007293 Sar1b secretion associated Ras related GTPase 1B gene DOID:0060357 chylomicron retention disease ISO RGD:1313710 D RGD:7240710 20180130 OMIM 9007293 Sar1b secretion associated Ras related GTPase 1B gene DOID:0060357 chylomicron retention disease ISO RGD:1313710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells PMID:10665502|PMID:12692552|PMID:17309654|PMID:17945526|PMID:19285442|PMID:24033266|PMID:25741868|PMID:28492532 9007293 Sar1b secretion associated Ras related GTPase 1B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9007293 Sar1b secretion associated Ras related GTPase 1B gene DOID:630 genetic disease ISO RGD:1313710 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12692552|PMID:17576681|PMID:17945526|PMID:19846172|PMID:21235735|PMID:28492532|PMID:29713611|PMID:30782561|PMID:9536098 9007293 Sar1b secretion associated Ras related GTPase 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9007293 Sar1b secretion associated Ras related GTPase 1B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313710 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9007293 Sar1b secretion associated Ras related GTPase 1B gene DOID:9008999 Hereditary Pancreatitis ISO RGD:1313710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:12692552|PMID:25741868 9007304 Arl14ep ADP ribosylation factor like GTPase 14 effector protein gene DOID:1059 intellectual disability ISO RGD:1602076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9007304 Arl14ep ADP ribosylation factor like GTPase 14 effector protein gene DOID:630 genetic disease ISO RGD:1602076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007304 Arl14ep ADP ribosylation factor like GTPase 14 effector protein gene DOID:9008086 Developmental Disabilities ISO RGD:1602076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868 9007318 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1314956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:28492532 9007318 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1314956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 9007318 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1314956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 9007318 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:0112073 nuclear type mitochondrial complex I deficiency 9 ISO RGD:1314956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 PMID:25741868|PMID:28492532 9007318 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1314956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 9007318 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:1059 intellectual disability ISO RGD:1314956 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9007318 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:1059 intellectual disability ISO RGD:1314956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9007318 Mrpl36 mitochondrial ribosomal protein L36 gene DOID:630 genetic disease ISO RGD:1314956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9007323 Lipk lipase family member K gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1320217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 9007323 Lipk lipase family member K gene DOID:630 genetic disease ISO RGD:1320217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007348 Mad2l1 mitotic arrest deficient 2 like 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1322050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9007348 Mad2l1 mitotic arrest deficient 2 like 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1322050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18691855 9007348 Mad2l1 mitotic arrest deficient 2 like 1 gene DOID:630 genetic disease ISO RGD:1322050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007348 Mad2l1 mitotic arrest deficient 2 like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1322050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9007348 Mad2l1 mitotic arrest deficient 2 like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9007362 Zcchc4 zinc finger CCHC-type containing 4 gene DOID:630 genetic disease ISO RGD:1322864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007386 Myf6 myogenic factor 6 gene DOID:0080089 tubular aggregate myopathy 1 ISO RGD:731932 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT PMID:11053684|PMID:25741868|PMID:28492532 9007386 Myf6 myogenic factor 6 gene DOID:0111217 autosomal dominant centronuclear myopathy ISO RGD:731932 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:11053684|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9007386 Myf6 myogenic factor 6 gene DOID:0111223 centronuclear myopathy 1 ISO RGD:731932 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, centronuclear, 1 PMID:11053684|PMID:25741868|PMID:28492532 9007386 Myf6 myogenic factor 6 gene DOID:422 congenital structural myopathy ISO RGD:731932 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:11053684|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9007386 Myf6 myogenic factor 6 gene DOID:630 genetic disease ISO RGD:731932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9007394 Ms4a14 membrane spanning 4-domains A14 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9007394 Ms4a14 membrane spanning 4-domains A14 gene DOID:1059 intellectual disability ISO RGD:1606761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9007394 Ms4a14 membrane spanning 4-domains A14 gene DOID:4990 essential tremor ISO RGD:1606761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 9007394 Ms4a14 membrane spanning 4-domains A14 gene DOID:630 genetic disease ISO RGD:1606761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007412 Sftpd surfactant protein D gene DOID:0050127 sinusitis ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa PMID:17599561|REF_RGD_ID:4143506 9007412 Sftpd surfactant protein D gene DOID:0060071 pre-malignant neoplasm ISO RGD:735702 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:18779194|REF_RGD_ID:4143498 9007412 Sftpd surfactant protein D gene DOID:0080599 Coronavirus infectious disease ISO RGD:3667 D RGD:9068941 20200609 RGD Severe Acute Respiratory Syndrome;protein:increased expression:lung PMID:19741068|REF_RGD_ID:4143520 9007412 Sftpd surfactant protein D gene DOID:11335 sarcoidosis ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Uveitis;protein:increased expression:serum PMID:20151281|REF_RGD_ID:4143491 9007412 Sftpd surfactant protein D gene DOID:11339 pneumocystosis ISO RGD:11287 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11385364|REF_RGD_ID:4143431 9007412 Sftpd surfactant protein D gene DOID:11394 adult respiratory distress syndrome ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:10588595|REF_RGD_ID:4143436 9007412 Sftpd surfactant protein D gene DOID:11650 bronchopulmonary dysplasia ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:17264398|REF_RGD_ID:4143384 9007412 Sftpd surfactant protein D gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Acquired Immunodeficiency Syndrome;protein:increased expression:lung PMID:16849999|REF_RGD_ID:4143461 9007412 Sftpd surfactant protein D gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:blood, lung PMID:19046553|REF_RGD_ID:4143497 9007412 Sftpd surfactant protein D gene DOID:12716 newborn respiratory distress syndrome ISO RGD:3667 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11504697|REF_RGD_ID:4143428 9007412 Sftpd surfactant protein D gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD DNA:SNP: :p.A160T (human) PMID:17524024|REF_RGD_ID:4143507 9007412 Sftpd surfactant protein D gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735702 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:10194154|REF_RGD_ID:4143439 9007412 Sftpd surfactant protein D gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.M11T, p.A160T (human PMID:19287351|REF_RGD_ID:4143495 9007412 Sftpd surfactant protein D gene DOID:1485 cystic fibrosis ISO RGD:735702 D RGD:9068941 20200609 RGD protein:decreased expression, altered degradation:lung PMID:18211966|REF_RGD_ID:4143502 9007412 Sftpd surfactant protein D gene DOID:2799 bronchiolitis obliterans ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:18347569|REF_RGD_ID:4143500 9007412 Sftpd surfactant protein D gene DOID:2841 asthma ISO RGD:11287 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11472974|REF_RGD_ID:4143465 9007412 Sftpd surfactant protein D gene DOID:2841 asthma ISO RGD:3667 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:18802356|REF_RGD_ID:4143516 9007412 Sftpd surfactant protein D gene DOID:2841 asthma ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:16839409|REF_RGD_ID:4143508 9007412 Sftpd surfactant protein D gene DOID:2841 asthma ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Bronchitis;protein:increased expression:lung PMID:18266831|REF_RGD_ID:4143517 9007412 Sftpd surfactant protein D gene DOID:2841 asthma ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16629790|REF_RGD_ID:4143462 9007412 Sftpd surfactant protein D gene DOID:2914 immune system disease ISO RGD:11287 D RGD:9068941 20200609 RGD associated with Pneumonia, Pneumocystis carinii;protein:increased expression, increased nitrosylation:lung PMID:19201882|REF_RGD_ID:4143286 9007412 Sftpd surfactant protein D gene DOID:3082 interstitial lung disease ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;protein:increased expression:serum PMID:19286849|REF_RGD_ID:4143496 9007412 Sftpd surfactant protein D gene DOID:3082 interstitial lung disease ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:9216212|REF_RGD_ID:4143449 9007412 Sftpd surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28166215 9007412 Sftpd surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:18310480|REF_RGD_ID:4143501 9007412 Sftpd surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735702 D RGD:9068941 20200609 RGD DNA:SNP: :p.A160T (human) PMID:19797132|REF_RGD_ID:4143281 9007412 Sftpd surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:735702 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20075511|REF_RGD_ID:4143492 9007412 Sftpd surfactant protein D gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple (human) PMID:20448057|REF_RGD_ID:4143487 9007412 Sftpd surfactant protein D gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:20401612|REF_RGD_ID:4143490 9007412 Sftpd surfactant protein D gene DOID:4483 rhinitis susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Hypersensitivity;DNA:polymorphism: :p.M11T (human) PMID:19493231|REF_RGD_ID:4143494 9007412 Sftpd surfactant protein D gene DOID:552 pneumonia ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:15967375|PMID:17925426|REF_RGD_ID:4143394|REF_RGD_ID:4143504 9007412 Sftpd surfactant protein D gene DOID:552 pneumonia ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:17925426|REF_RGD_ID:4143504 9007412 Sftpd surfactant protein D gene DOID:552 pneumonia ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Bronchitis;protein:decreased expression:lung PMID:18266831|REF_RGD_ID:4143517 9007412 Sftpd surfactant protein D gene DOID:630 genetic disease ISO RGD:735702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007412 Sftpd surfactant protein D gene DOID:850 lung disease ISO RGD:11287 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:20639460|REF_RGD_ID:4143256 9007412 Sftpd surfactant protein D gene DOID:850 lung disease ISO RGD:3667 D RGD:9068941 20200609 RGD Lung Injury PMID:17616020|REF_RGD_ID:4143505 9007412 Sftpd surfactant protein D gene DOID:850 lung disease ISO RGD:735702 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:17974096|REF_RGD_ID:4143503 9007412 Sftpd surfactant protein D gene DOID:850 lung disease disease_progression ISO RGD:735702 D RGD:9068941 20200609 RGD Acute Lung Injury;protein:increased expression:plasma PMID:20435656|REF_RGD_ID:4143488 9007412 Sftpd surfactant protein D gene DOID:874 bacterial pneumonia ISO RGD:3667 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12169586|REF_RGD_ID:4143464 9007412 Sftpd surfactant protein D gene DOID:874 bacterial pneumonia ISO RGD:735702 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;protein:decreased expression:lung PMID:15271694|REF_RGD_ID:4143403 9007412 Sftpd surfactant protein D gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:11287 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:14748931|REF_RGD_ID:4143407 9007412 Sftpd surfactant protein D gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:3667 D RGD:9068941 20200609 RGD PMID:12882759|REF_RGD_ID:4144051 9007412 Sftpd surfactant protein D gene DOID:9001488 Human Influenza ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:16787926|REF_RGD_ID:4143518 9007412 Sftpd surfactant protein D gene DOID:9001488 Human Influenza ISO RGD:3667 D RGD:9068941 20200609 RGD PMID:16787926|REF_RGD_ID:4143518 9007412 Sftpd surfactant protein D gene DOID:9002106 Pneumococcal Pneumonia severity ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:16255775|REF_RGD_ID:4143519 9007412 Sftpd surfactant protein D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9007412 Sftpd surfactant protein D gene DOID:9004610 Acute Lung Injury ISO RGD:735702 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30060251 9007412 Sftpd surfactant protein D gene DOID:9005172 Lung Neoplasms ISO RGD:735702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14522914|PMID:15136449 9007412 Sftpd surfactant protein D gene DOID:9005724 Fungal Lung Diseases ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:20413160|REF_RGD_ID:4143489 9007412 Sftpd surfactant protein D gene DOID:9005724 Fungal Lung Diseases susceptibility ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:20413160|REF_RGD_ID:4143489 9007412 Sftpd surfactant protein D gene DOID:9007480 Hyperoxia ISO RGD:3667 D RGD:9068941 20200609 RGD PMID:18635887|REF_RGD_ID:4143499 9007412 Sftpd surfactant protein D gene DOID:9007480 Hyperoxia ISO RGD:3667 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:11472975|REF_RGD_ID:4143429 9007412 Sftpd surfactant protein D gene DOID:9007480 Hyperoxia resistance ISO RGD:11287 D RGD:9068941 20200609 RGD PMID:17158597|REF_RGD_ID:4143385 9007412 Sftpd surfactant protein D gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:735702 D RGD:9068941 20200609 RGD PMID:20459699|REF_RGD_ID:4143486 9007412 Sftpd surfactant protein D gene DOID:9074 systemic lupus erythematosus ISO RGD:735702 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19833760|REF_RGD_ID:4143493 9007428 Psma5 proteasome 20S subunit alpha 5 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:734293 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 9007428 Psma5 proteasome 20S subunit alpha 5 gene DOID:11476 osteoporosis ISO RGD:734293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 9007428 Psma5 proteasome 20S subunit alpha 5 gene DOID:12849 autistic disorder ISO RGD:734293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9007428 Psma5 proteasome 20S subunit alpha 5 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:734293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 9007428 Psma5 proteasome 20S subunit alpha 5 gene DOID:630 genetic disease ISO RGD:734293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007428 Psma5 proteasome 20S subunit alpha 5 gene DOID:9452 steatotic liver disease ISO RGD:734293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 9007453 Frmpd3 FERM and PDZ domain containing 3 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1601735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 9007453 Frmpd3 FERM and PDZ domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9007453 Frmpd3 FERM and PDZ domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1601735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9007454 Etnppl ethanolamine-phosphate phospho-lyase gene DOID:630 genetic disease ISO RGD:1350227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007485 Cdh22 cadherin 22 gene DOID:2234 focal epilepsy ISO RGD:732591 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9007485 Cdh22 cadherin 22 gene DOID:630 genetic disease ISO RGD:732591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007485 Cdh22 cadherin 22 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732591 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 9007500 Arrdc3 arrestin domain containing 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348140 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9007500 Arrdc3 arrestin domain containing 3 gene DOID:630 genetic disease ISO RGD:1348140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007500 Arrdc3 arrestin domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9007500 Arrdc3 arrestin domain containing 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348140 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9007500 Arrdc3 arrestin domain containing 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1348140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038754 9007511 LOC102030124 cholesterol 24-hydroxylase gene DOID:10652 Alzheimer's disease ISO RGD:1315314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19286353 9007511 LOC102030124 cholesterol 24-hydroxylase gene DOID:10652 Alzheimer's disease ISO RGD:1315314 D RGD:9068941 20200609 RGD PMID:12232784|REF_RGD_ID:1358575 9007511 LOC102030124 cholesterol 24-hydroxylase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1315314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 9007511 LOC102030124 cholesterol 24-hydroxylase gene DOID:630 genetic disease ISO RGD:1315314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:14330 Parkinson's disease treatment ISO XCO:0000498, XCO:0000520 D RGD:9068941 20210305 RGD compared to wild-type and untreated PMID:29530712|REF_RGD_ID:40924655 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:1470 major depressive disorder ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29175309 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:1793 pancreatic cancer ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20660371 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:289 endometriosis ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:4783 mesangial proliferative glomerulonephritis ISO RGD:620029 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:16736195|REF_RGD_ID:14700866 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:557 kidney disease ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722447 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:576 proteinuria ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24722447 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:630 genetic disease ISO RGD:732751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:784 chronic kidney disease disease_progression ISO RGD:620029 D RGD:9068941 20200609 RGD PMID:24722447|REF_RGD_ID:12910103 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:620029 D RGD:9068941 20201211 RGD compared to FHH PMID:24722447|REF_RGD_ID:12910103 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:9001542 Albuminuria ISO RGD:620029 D RGD:9068941 20201211 RGD compared to FHH PMID:24722447|REF_RGD_ID:12910103 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:732752 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:22343121|REF_RGD_ID:14700869 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:9006223 Kidney Reperfusion Injury severity ISO RGD:732752 D RGD:9068941 20200609 RGD PMID:22343121|REF_RGD_ID:14700869 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:620029 D RGD:9068941 20201211 RGD compared to FHH PMID:24722447|REF_RGD_ID:12910103 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:9007692 Insulin Resistance ISO RGD:732751 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17785466 9007529 Nr4a1 nuclear receptor subfamily 4 group A member 1 gene DOID:9008675 Dyskinesias treatment ISO XCO:0000498, XCO:0000520 D RGD:9068941 20210305 RGD compared to wild-type and untreated PMID:29530712|REF_RGD_ID:40924655 9007545 Ndrg2 NDRG family member 2 gene DOID:224 transient cerebral ischemia ISO RGD:732058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23451161 9007545 Ndrg2 NDRG family member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:732058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 9007545 Ndrg2 NDRG family member 2 gene DOID:630 genetic disease ISO RGD:732058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007545 Ndrg2 NDRG family member 2 gene DOID:83 cataract ISO RGD:732058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22043305 9007545 Ndrg2 NDRG family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9007545 Ndrg2 NDRG family member 2 gene DOID:9002928 Colonic Neoplasms ISO RGD:732058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 9007545 Ndrg2 NDRG family member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:732058 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9007595 Pfdn6 prefoldin subunit 6 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9007595 Pfdn6 prefoldin subunit 6 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1351314 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 9007595 Pfdn6 prefoldin subunit 6 gene DOID:630 genetic disease ISO RGD:1351314 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007606 Hgf hepatocyte growth factor gene DOID:0050625 biliary tract benign neoplasm ISO RGD:70837 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12819026|REF_RGD_ID:2317903 9007606 Hgf hepatocyte growth factor gene DOID:0050700 cardiomyopathy ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16109756|PMID:18083897 9007606 Hgf hepatocyte growth factor gene DOID:0050834 CHARGE syndrome ISO RGD:70837 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 9007606 Hgf hepatocyte growth factor gene DOID:0050852 limb ischemia treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:15238569|REF_RGD_ID:8548639 9007606 Hgf hepatocyte growth factor gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:20848408|REF_RGD_ID:8548612 9007606 Hgf hepatocyte growth factor gene DOID:0060041 autism spectrum disorder ISO RGD:70837 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9007606 Hgf hepatocyte growth factor gene DOID:0060224 atrial fibrillation ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:15008956|REF_RGD_ID:8548608 9007606 Hgf hepatocyte growth factor gene DOID:0060903 thrombosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15367830 9007606 Hgf hepatocyte growth factor gene DOID:0080600 COVID-19 ISO RGD:70837 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9007606 Hgf hepatocyte growth factor gene DOID:0080600 COVID-19 severity ISO RGD:70837 D RGD:9068941 20200618 RGD protein:increased expression:plasma (human) PMID:32360286|REF_RGD_ID:30309209 9007606 Hgf hepatocyte growth factor gene DOID:0080745 polymyositis disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8952317|REF_RGD_ID:8548628 9007606 Hgf hepatocyte growth factor gene DOID:0081267 graft-versus-host disease treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:11390418|REF_RGD_ID:8548544 9007606 Hgf hepatocyte growth factor gene DOID:0110497 autosomal recessive nonsyndromic deafness 39 ISO RGD:70837 D RGD:7240710 20180130 OMIM 9007606 Hgf hepatocyte growth factor gene DOID:0110497 autosomal recessive nonsyndromic deafness 39 ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 39 PMID:18564920|PMID:19576567|PMID:24033266|PMID:25741868|PMID:28492532 9007606 Hgf hepatocyte growth factor gene DOID:10126 keratoconus ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:SNP: : rs2286194(human) PMID:24416191|REF_RGD_ID:8548553 9007606 Hgf hepatocyte growth factor gene DOID:10223 dermatomyositis disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8952317|REF_RGD_ID:8548628 9007606 Hgf hepatocyte growth factor gene DOID:10584 retinitis pigmentosa ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor: PMID:20053975|REF_RGD_ID:8548602 9007606 Hgf hepatocyte growth factor gene DOID:10763 hypertension susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:polymorphism:intron13:C/A PMID:15127882|REF_RGD_ID:1642064 9007606 Hgf hepatocyte growth factor gene DOID:11446 sciatic neuropathy treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:18941443|REF_RGD_ID:8548631 9007606 Hgf hepatocyte growth factor gene DOID:11830 myopia ISO RGD:70837 D RGD:9068941 20200609 RGD Han Chinese population PMID:16723436|REF_RGD_ID:1642706 9007606 Hgf hepatocyte growth factor gene DOID:11830 myopia no_association ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:SNP: : rs3735520(human) PMID:19060265|REF_RGD_ID:8548600 9007606 Hgf hepatocyte growth factor gene DOID:11830 myopia susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes:multiple: PMID:19471602|REF_RGD_ID:8548542 9007606 Hgf hepatocyte growth factor gene DOID:12306 vitiligo treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16117796|REF_RGD_ID:8548598 9007606 Hgf hepatocyte growth factor gene DOID:13025 retinopathy of prematurity ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:10751359|REF_RGD_ID:8548546 9007606 Hgf hepatocyte growth factor gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype::rs5745718,rs1742817(human) PMID:23585864|REF_RGD_ID:8548548 9007606 Hgf hepatocyte growth factor gene DOID:14256 adult-onset Still's disease ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 9007606 Hgf hepatocyte growth factor gene DOID:14330 Parkinson's disease ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16791285 9007606 Hgf hepatocyte growth factor gene DOID:1749 squamous cell carcinoma ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21273587 9007606 Hgf hepatocyte growth factor gene DOID:178 vascular disease ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15071489 9007606 Hgf hepatocyte growth factor gene DOID:1790 malignant mesothelioma ISO RGD:70837 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 9007606 Hgf hepatocyte growth factor gene DOID:1793 pancreatic cancer ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20017454|REF_RGD_ID:2317895 9007606 Hgf hepatocyte growth factor gene DOID:1826 epilepsy ISO RGD:70837 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 9007606 Hgf hepatocyte growth factor gene DOID:2349 arteriosclerosis severity ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:9350587|REF_RGD_ID:8548601 9007606 Hgf hepatocyte growth factor gene DOID:2741 bilirubin metabolic disorder treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:9073133|REF_RGD_ID:8548604 9007606 Hgf hepatocyte growth factor gene DOID:3069 malignant astrocytoma ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11223164 9007606 Hgf hepatocyte growth factor gene DOID:3070 high grade glioma disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:12115353|REF_RGD_ID:8548633 9007606 Hgf hepatocyte growth factor gene DOID:3082 interstitial lung disease severity ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Scleroderma, Systemic;DNA:polymorphism:promoter:-1652C>T(human) PMID:21520010|REF_RGD_ID:8548623 9007606 Hgf hepatocyte growth factor gene DOID:3179 inverted papilloma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:inferior nasal concha: PMID:22730814|REF_RGD_ID:8548614 9007606 Hgf hepatocyte growth factor gene DOID:331 central nervous system disease ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid: PMID:12100369|REF_RGD_ID:8548547 9007606 Hgf hepatocyte growth factor gene DOID:3393 coronary artery disease ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:11669408|REF_RGD_ID:8548610 9007606 Hgf hepatocyte growth factor gene DOID:3407 carotid artery disease ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:16759302|REF_RGD_ID:2313566 9007606 Hgf hepatocyte growth factor gene DOID:3454 brain infarction treatment ISO RGD:2794 D RGD:9068941 20200609 RGD PMID:16421510|REF_RGD_ID:8548626 9007606 Hgf hepatocyte growth factor gene DOID:3565 meningioma disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:12115353|REF_RGD_ID:8548633 9007606 Hgf hepatocyte growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 9007606 Hgf hepatocyte growth factor gene DOID:3770 pulmonary fibrosis ISO RGD:70837 D RGD:9068941 20200609 RGD associated with myositis;protein:increased expression:serum: PMID:8952317|REF_RGD_ID:8548628 9007606 Hgf hepatocyte growth factor gene DOID:418 systemic scleroderma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 9007606 Hgf hepatocyte growth factor gene DOID:418 systemic scleroderma severity ISO RGD:70837 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:22286923|REF_RGD_ID:8548651 9007606 Hgf hepatocyte growth factor gene DOID:418 systemic scleroderma treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:17049072|REF_RGD_ID:8548624 9007606 Hgf hepatocyte growth factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9007606 Hgf hepatocyte growth factor gene DOID:4947 cholangiocarcinoma ISO RGD:2794 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: : PMID:10827151|REF_RGD_ID:2317925 9007606 Hgf hepatocyte growth factor gene DOID:4947 cholangiocarcinoma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16974053|REF_RGD_ID:2317909 9007606 Hgf hepatocyte growth factor gene DOID:4989 pancreatitis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14751415 9007606 Hgf hepatocyte growth factor gene DOID:5082 liver cirrhosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17097021 9007606 Hgf hepatocyte growth factor gene DOID:5419 schizophrenia ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9007606 Hgf hepatocyte growth factor gene DOID:5844 myocardial infarction ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:12419930|REF_RGD_ID:8548609 9007606 Hgf hepatocyte growth factor gene DOID:5844 myocardial infarction treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16570015|REF_RGD_ID:8548632 9007606 Hgf hepatocyte growth factor gene DOID:630 genetic disease ISO RGD:70837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 9007606 Hgf hepatocyte growth factor gene DOID:633 myositis disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8952317|REF_RGD_ID:8548628 9007606 Hgf hepatocyte growth factor gene DOID:684 hepatocellular carcinoma ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11896611|PMID:9932610 9007606 Hgf hepatocyte growth factor gene DOID:7148 rheumatoid arthritis disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24387171|REF_RGD_ID:8548659 9007606 Hgf hepatocyte growth factor gene DOID:769 neuroblastoma ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16051641 9007606 Hgf hepatocyte growth factor gene DOID:8466 retinal degeneration treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:15505072|REF_RGD_ID:8548603 9007606 Hgf hepatocyte growth factor gene DOID:8472 localized scleroderma treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:14712301|REF_RGD_ID:8548627 9007606 Hgf hepatocyte growth factor gene DOID:869 cholesteatoma ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:fibroblast: PMID:15267172|REF_RGD_ID:8547969 9007606 Hgf hepatocyte growth factor gene DOID:8947 diabetic retinopathy ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:15525877|REF_RGD_ID:8548539 9007606 Hgf hepatocyte growth factor gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum PMID:18335393|REF_RGD_ID:2313565 9007606 Hgf hepatocyte growth factor gene DOID:9000011 Gallbladder Neoplasms ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:15118756|REF_RGD_ID:2317899 9007606 Hgf hepatocyte growth factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2794 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:spinal cord: PMID:17549731|REF_RGD_ID:2317487 9007606 Hgf hepatocyte growth factor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2794 D RGD:9068941 20200609 RGD PMID:17549731|REF_RGD_ID:2317487 9007606 Hgf hepatocyte growth factor gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:22140459|REF_RGD_ID:8548666 9007606 Hgf hepatocyte growth factor gene DOID:9000319 Lentigo ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:20662835|REF_RGD_ID:8548653 9007606 Hgf hepatocyte growth factor gene DOID:9000386 Polyomavirus Infections ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 9007606 Hgf hepatocyte growth factor gene DOID:9000641 Pain ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26000320 9007606 Hgf hepatocyte growth factor gene DOID:9000656 Penetrating Wounds ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12890377 9007606 Hgf hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:10708 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental; PMID:16459153|REF_RGD_ID:8548625 9007606 Hgf hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25971889 9007606 Hgf hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Melanoma; PMID:10688652|REF_RGD_ID:8548538 9007606 Hgf hepatocyte growth factor gene DOID:9000965 Neoplasm Metastasis ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:11893931|REF_RGD_ID:2317904 9007606 Hgf hepatocyte growth factor gene DOID:9001044 Choroidal Neovascularization ISO RGD:2794 D RGD:9068941 20200609 RGD protein:increased expression:choroidal tissue: PMID:19013152|REF_RGD_ID:8548599 9007606 Hgf hepatocyte growth factor gene DOID:9001472 Nasal Polyps ISO RGD:70837 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16982975|REF_RGD_ID:8548613 9007606 Hgf hepatocyte growth factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10677585|PMID:12918455|PMID:15793283|PMID:16465399|PMID:16627068|PMID:17714472|PMID:18637143 9007606 Hgf hepatocyte growth factor gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11896611 9007606 Hgf hepatocyte growth factor gene DOID:9001600 Wounds and Injuries treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16572191|REF_RGD_ID:8548635 9007606 Hgf hepatocyte growth factor gene DOID:9001725 Retina Reperfusion Injury ISO RGD:2794 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:11818401|REF_RGD_ID:8548551 9007606 Hgf hepatocyte growth factor gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:11818401|REF_RGD_ID:8548551 9007606 Hgf hepatocyte growth factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16340242|REF_RGD_ID:2313567 9007606 Hgf hepatocyte growth factor gene DOID:9002170 Experimental Neoplasms ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21273587 9007606 Hgf hepatocyte growth factor gene DOID:9004001 Facial Nerve Injuries treatment ISO RGD:2794 D RGD:9068941 20200609 RGD PMID:21562589|REF_RGD_ID:8548634 9007606 Hgf hepatocyte growth factor gene DOID:9004009 Reperfusion Injury ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 9007606 Hgf hepatocyte growth factor gene DOID:9004118 Experimental Melanoma ISO RGD:10708 D RGD:9068941 20200609 RGD PMID:9823327|REF_RGD_ID:8548620 9007606 Hgf hepatocyte growth factor gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:9308731|REF_RGD_ID:2317564 9007606 Hgf hepatocyte growth factor gene DOID:9004464 Skin Neoplasms susceptibility ISO RGD:10708 D RGD:9068941 20200609 RGD PMID:10919643|REF_RGD_ID:8548621 9007606 Hgf hepatocyte growth factor gene DOID:9004538 Hearing Loss ISO RGD:70837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 9007606 Hgf hepatocyte growth factor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15654357|PMID:9932610 9007606 Hgf hepatocyte growth factor gene DOID:9004590 Acute Liver Failure ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12479984 9007606 Hgf hepatocyte growth factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2794 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16297324|REF_RGD_ID:2313568 9007606 Hgf hepatocyte growth factor gene DOID:9005941 Rhinosinusitis susceptibility ISO RGD:70837 D RGD:9068941 20200609 RGD DNA:haplotype::rs38850,rs38855,rs38857(human) PMID:20416453|REF_RGD_ID:8548615 9007606 Hgf hepatocyte growth factor gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 9007606 Hgf hepatocyte growth factor gene DOID:9006646 Metabolic Syndrome ISO RGD:70837 D RGD:9068941 20200609 RGD study in the Japanese population PMID:15713721|REF_RGD_ID:1642702 9007606 Hgf hepatocyte growth factor gene DOID:9007096 Stroke treatment ISO RGD:2794 D RGD:9068941 20200609 RGD PMID:16421510|REF_RGD_ID:8548626 9007606 Hgf hepatocyte growth factor gene DOID:9007102 Myocardial Ischemia ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12447174 9007606 Hgf hepatocyte growth factor gene DOID:9007188 Liver Neoplasms ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8807143 9007606 Hgf hepatocyte growth factor gene DOID:9007748 Retinal Neovascularization ISO RGD:10708 D RGD:9068941 20200609 RGD mRNA:increased expression:retina: PMID:17389513|REF_RGD_ID:8548541 9007606 Hgf hepatocyte growth factor gene DOID:9008091 Optic Nerve Injuries treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:21443522|REF_RGD_ID:8548549 9007606 Hgf hepatocyte growth factor gene DOID:9008510 Chronic Hepatitis ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 9007606 Hgf hepatocyte growth factor gene DOID:9008691 Liver Injury treatment ISO RGD:70837 D RGD:9068941 20200609 RGD PMID:16246197|REF_RGD_ID:8548597 9007606 Hgf hepatocyte growth factor gene DOID:9119 acute myeloid leukemia ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22683780 9007606 Hgf hepatocyte growth factor gene DOID:9206 Barrett's esophagus ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15387324 9007606 Hgf hepatocyte growth factor gene DOID:9351 diabetes mellitus ISO RGD:70837 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cornea PMID:16186340|REF_RGD_ID:2313569 9007606 Hgf hepatocyte growth factor gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor: PMID:10967068|REF_RGD_ID:8548540 9007606 Hgf hepatocyte growth factor gene DOID:9743 diabetic neuropathy ISO RGD:70837 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26000320 9007606 Hgf hepatocyte growth factor gene DOID:9743 diabetic neuropathy ISO RGD:70837 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15734864|REF_RGD_ID:2313570 9007606 Hgf hepatocyte growth factor gene DOID:9970 obesity ISO RGD:70837 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12706940|REF_RGD_ID:1642704 9007630 Abhd2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1322825 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 9007630 Abhd2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:13938 amenorrhea ISO RGD:1322825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9007630 Abhd2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:2717 Bloom syndrome ISO RGD:1322825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9007630 Abhd2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:630 genetic disease ISO RGD:1322825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007630 Abhd2 abhydrolase domain containing 2, acylglycerol lipase gene DOID:9256 colorectal cancer ISO RGD:1322825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9007653 Arhgap28 Rho GTPase activating protein 28 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 9007653 Arhgap28 Rho GTPase activating protein 28 gene DOID:1059 intellectual disability ISO RGD:1347841 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9007653 Arhgap28 Rho GTPase activating protein 28 gene DOID:289 endometriosis ISO RGD:1347841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 9007653 Arhgap28 Rho GTPase activating protein 28 gene DOID:630 genetic disease ISO RGD:1347841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007700 Tgoln2 trans-golgi network protein 2 gene DOID:50 thyroid gland disease ISO RGD:1351226 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 9007700 Tgoln2 trans-golgi network protein 2 gene DOID:630 genetic disease ISO RGD:1351226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007700 Tgoln2 trans-golgi network protein 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1624067 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9007708 Spata17 spermatogenesis associated 17 gene DOID:0050439 Usher syndrome ISO RGD:1604999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 9007708 Spata17 spermatogenesis associated 17 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 9007708 Spata17 spermatogenesis associated 17 gene DOID:1540 parathyroid carcinoma ISO RGD:1604999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9007708 Spata17 spermatogenesis associated 17 gene DOID:630 genetic disease ISO RGD:1604999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007708 Spata17 spermatogenesis associated 17 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9007740 Sp140 SP140 nuclear body protein gene DOID:0060476 Perlman syndrome ISO RGD:1314926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 9007740 Sp140 SP140 nuclear body protein gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 9007740 Sp140 SP140 nuclear body protein gene DOID:0112254 hepatic venoocclusive disease with immunodeficiency ISO RGD:1314926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome PMID:16648851|PMID:16803959|PMID:17510920|PMID:17576681|PMID:19780822|PMID:20301448|PMID:21536091|PMID:22621957|PMID:23448538|PMID:24033266|PMID:25741868|PMID:27577878|PMID:28492532|PMID:32888943|PMID:9536098 9007740 Sp140 SP140 nuclear body protein gene DOID:399 tuberculosis ISO RGD:1314926 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to PMID:16803959|PMID:16816019|PMID:17149599 9007740 Sp140 SP140 nuclear body protein gene DOID:630 genetic disease ISO RGD:1314926 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9007740 Sp140 SP140 nuclear body protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9007740 Sp140 SP140 nuclear body protein gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1314926 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18758461 9007772 Rex1bd required for excision 1-B domain containing gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1605988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 9007780 Rida reactive intermediate imine deaminase A homolog gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:70940 D RGD:9068941 20200609 RGD PMID:23075396|REF_RGD_ID:9685568 9007780 Rida reactive intermediate imine deaminase A homolog gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:70940 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:12939504|REF_RGD_ID:9685719 9007780 Rida reactive intermediate imine deaminase A homolog gene DOID:9004590 Acute Liver Failure ISO RGD:1343199 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 9007790 Btnl10 Butyrophilin-like protein 10 gene DOID:1540 parathyroid carcinoma ISO RGD:6480792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9007790 Btnl10 Butyrophilin-like protein 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:6480792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9007799 Rara retinoic acid receptor alpha gene DOID:0060318 acute promyelocytic leukemia ISO RGD:733999 D RGD:7240710 20180130 OMIM 9007799 Rara retinoic acid receptor alpha gene DOID:11446 sciatic neuropathy ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782282 9007799 Rara retinoic acid receptor alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:3534 D RGD:9068941 20200609 RGD PMID:17956549|REF_RGD_ID:2314289 9007799 Rara retinoic acid receptor alpha gene DOID:3324 mood disorder ISO RGD:733999 D RGD:9068941 20200609 RGD PMID:19596122|REF_RGD_ID:2314250 9007799 Rara retinoic acid receptor alpha gene DOID:630 genetic disease ISO RGD:733999 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15193451|PMID:25741868|PMID:9111026 9007799 Rara retinoic acid receptor alpha gene DOID:684 hepatocellular carcinoma ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18026104 9007799 Rara retinoic acid receptor alpha gene DOID:9000039 Spinal Cord Injuries ISO RGD:3534 D RGD:9068941 20200609 RGD PMID:16420438|REF_RGD_ID:2314291 9007799 Rara retinoic acid receptor alpha gene DOID:9003370 Dyslipidemias ISO RGD:733999 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 9007799 Rara retinoic acid receptor alpha gene DOID:9004240 Phyllodes Tumor ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 9007799 Rara retinoic acid receptor alpha gene DOID:9005715 Neoplasms, Second Primary ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19884644 9007799 Rara retinoic acid receptor alpha gene DOID:9006947 Fibroadenoma ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 9007799 Rara retinoic acid receptor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:733999 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437033 9007818 Fbxo4 F-box protein 4 gene DOID:630 genetic disease ISO RGD:1316856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007818 Fbxo4 F-box protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9007832 Abi3 ABI family member 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1323432 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 9007832 Abi3 ABI family member 3 gene DOID:10652 Alzheimer's disease ISO RGD:1323432 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28714976 9007832 Abi3 ABI family member 3 gene DOID:630 genetic disease ISO RGD:1323432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007841 Lrrc32 leucine rich repeat containing 32 gene DOID:1059 intellectual disability ISO RGD:1319230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9007841 Lrrc32 leucine rich repeat containing 32 gene DOID:630 genetic disease ISO RGD:1319230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007841 Lrrc32 leucine rich repeat containing 32 gene DOID:9000539 Cleft Palate, Proliferative Retinopathy, and Developmental Delay ISO RGD:1319230 D RGD:7240710 20201111 OMIM 9007841 Lrrc32 leucine rich repeat containing 32 gene DOID:9000539 Cleft Palate, Proliferative Retinopathy, and Developmental Delay ISO RGD:1319230 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay PMID:25741868|PMID:30976112 9007841 Lrrc32 leucine rich repeat containing 32 gene DOID:9008086 Developmental Disabilities ISO RGD:1319230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:30976112 9007857 Cntnap4 contactin associated protein family member 4 gene DOID:630 genetic disease ISO RGD:1315089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9007857 Cntnap4 contactin associated protein family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1315089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9007885 Bmp1 bone morphogenetic protein 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1605441 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:24033266|PMID:25741868|PMID:28492532 9007885 Bmp1 bone morphogenetic protein 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1605441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868 9007885 Bmp1 bone morphogenetic protein 1 gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:1605441 D RGD:7240710 20180130 OMIM 9007885 Bmp1 bone morphogenetic protein 1 gene DOID:0110342 osteogenesis imperfecta type 13 ISO RGD:1605441 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: BMP1-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta type 13 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii PMID:15542026|PMID:17576681|PMID:22052668|PMID:22482805|PMID:24091809|PMID:24648371|PMID:25214535|PMID:25402547|PMID:25741868|PMID:28492532|PMID:29499418|PMID:9536098 9007885 Bmp1 bone morphogenetic protein 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1605441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive PMID:24033266|PMID:25741868 9007885 Bmp1 bone morphogenetic protein 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1605441 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:24033266|PMID:25741868|PMID:28492532 9007885 Bmp1 bone morphogenetic protein 1 gene DOID:630 genetic disease ISO RGD:1605441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9007885 Bmp1 bone morphogenetic protein 1 gene DOID:9000955 Acute Otitis Media ISO RGD:1551822 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 9007885 Bmp1 bone morphogenetic protein 1 gene DOID:9003953 Surfactant Dysfunction ISO RGD:1605441 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:24033266|PMID:28492532 9007885 Bmp1 bone morphogenetic protein 1 gene DOID:9005976 Pulmonary Surfactant Metabolism Dysfunction 2 ISO RGD:1605441 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 2 PMID:24033266|PMID:25741868|PMID:28492532 9007885 Bmp1 bone morphogenetic protein 1 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1605441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 9007908 Cftr CF transmembrane conductance regulator gene DOID:0050127 sinusitis ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16083808 9007908 Cftr CF transmembrane conductance regulator gene DOID:0050127 sinusitis susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:11773581|REF_RGD_ID:4140477 9007908 Cftr CF transmembrane conductance regulator gene DOID:0060041 autism spectrum disorder ISO RGD:619566 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9007908 Cftr CF transmembrane conductance regulator gene DOID:0060643 primary sclerosing cholangitis susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD associated with inflammatory bowel disease; DNA:misense mutations:multiple PMID:12783301|REF_RGD_ID:25671445 9007908 Cftr CF transmembrane conductance regulator gene DOID:0070187 Y-linked spermatogenic failure 2 ISO RGD:619566 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, Y-linked, 2 PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1380943|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25326635|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522 9007908 Cftr CF transmembrane conductance regulator gene DOID:0080216 duodenal atresia ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duodenal stenosis PMID:10103316|PMID:10425036|PMID:10782933|PMID:10950058|PMID:10963013|PMID:11186891|PMID:11280952|PMID:11547256|PMID:11733566|PMID:11924117|PMID:12400067|PMID:1370875|PMID:1377276|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1384321|PMID:14618962|PMID:15141088|PMID:15246977|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15482777|PMID:15640323|PMID:15905293|PMID:16075239|PMID:16283887|PMID:16478680|PMID:1673094|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1723032|PMID:1756602|PMID:17692578|PMID:18180206|PMID:18234567|PMID:18394117|PMID:18456578|PMID:18507830|PMID:18796364|PMID:19176844|PMID:19227414|PMID:19459534|PMID:19837664|PMID:19878303|PMID:19885835|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20667826|PMID:20687163|PMID:20696241|PMID:20705837|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21152102|PMID:21228398|PMID:21411740|PMID:21486785|PMID:21520337|PMID:21594800|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:2220803|PMID:22332135|PMID:2233932|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22658665|PMID:22680785|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23104983|PMID:23168765|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23436935|PMID:23656801|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24375076|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24559724|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25042876|PMID:25148434|PMID:25330774|PMID:25608981|PMID:25636364|PMID:25697321|PMID:2570460|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25981758|PMID:26006199|PMID:26095523|PMID:26149808|PMID:26467025|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26800689|PMID:26911355|PMID:26976279|PMID:26989879|PMID:27171515|PMID:27298017|PMID:27334259|PMID:27469177|PMID:27577878|PMID:27660821|PMID:27673710|PMID:27738188|PMID:27805836|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28492530|PMID:28492532|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29261177|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29589582|PMID:29614238|PMID:29668297|PMID:29805046|PMID:29944384|PMID:30030066|PMID:30089726|PMID:30279124|PMID:30487145|PMID:30600599|PMID:30602999|PMID:30609409|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31310009|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31788424|PMID:31980526|PMID:32429104|PMID:32761997|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33365035|PMID:33713579|PMID:34426522|PMID:7517267|PMID:7533604|PMID:7537148|PMID:7540133|PMID:7560099|PMID:7691813|PMID:7789957|PMID:8092189|PMID:8659542|PMID:8740923|PMID:8844211|PMID:8886242|PMID:9135274|PMID:9235853|PMID:9272738|PMID:9439669|PMID:9493456|PMID:9618063 9007908 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:7240710 20180130 OMIM 9007908 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of PMID:10103316|PMID:10200050|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10556281|PMID:10571949|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10878476|PMID:10909845|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10982968|PMID:11005149|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11938439|PMID:12007216|PMID:12014388|PMID:12080183|PMID:12110684|PMID:12120234|PMID:12127423|PMID:12167682|PMID:12215837|PMID:12357328|PMID:12397022|PMID:12400067|PMID:12414835|PMID:12422349|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12719375|PMID:12732620|PMID:12767731|PMID:12815607|PMID:1283148|PMID:1284477|PMID:1284534|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14618962|PMID:14685937|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15241793|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15463866|PMID:15463888|PMID:15463907|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15536480|PMID:15638824|PMID:15640323|PMID:15698945|PMID:15698946|PMID:15738290|PMID:15758663|PMID:15775704|PMID:15776432|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16132229|PMID:16134171|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16801189|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:17235394|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594397|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18230692|PMID:18234567|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18951463|PMID:19092437|PMID:19176844|PMID:19181854 9007908 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of PMID:19202204|PMID:19227414|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20849526|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21228398|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21486785|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:2220803|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22449949|PMID:22468138|PMID:22569626|PMID:22572128|PMID:22658665|PMID:22664493|PMID:22678879|PMID:22680785|PMID:22768251|PMID:22842702|PMID:22874010|PMID:22942289|PMID:22950544|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23067305|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24243928|PMID:24269240|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25311995|PMID:25330774|PMID:25333069|PMID:25383785|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:25651269|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25797027|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26087176|PMID:26095523|PMID:26098992 9007908 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26500004|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26708955|PMID:26795017|PMID:26800689|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26864378|PMID:26900683|PMID:26911355|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28001373|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28711222|PMID:28736296|PMID:28801929|PMID:28863137|PMID:28930490|PMID:28957316|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:29173301|PMID:29202459|PMID:29216686|PMID:29261177|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30089726|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30348612|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30548586|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30888834|PMID:30938940|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31682332|PMID:31740593|PMID:31788424|PMID:31808782|PMID:31902693|PMID:31916691|PMID:31980526|PMID:32026723|PMID:32143663|PMID:32204475|PMID:32281737|PMID:32292813|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32662942|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32819855|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33365035|PMID:33374015|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33771570|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34196078|PMID:34341587|PMID:34350279|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34860163|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35065958|PMID:35273129|PMID:35418593|PMID:35585144|PMID:35626323|PMID:35698092|PMID:35913788|PMID:36555865|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769 9007908 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of PMID:7681034|PMID:7682196|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9135274|PMID:9150159|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9493456|PMID:9507391|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9921909|PMID:9950364|PMID:9950763 9007908 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10225950|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10453741|PMID:10480369|PMID:10515411|PMID:10556281|PMID:10562297|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790220|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10827969|PMID:10834512|PMID:10836331|PMID:10866956|PMID:10869121|PMID:10875853|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10922396|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11005149|PMID:11025834|PMID:11038458|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11118444|PMID:11119745|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11295849|PMID:11303509|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11430710|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11471192|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11585852|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11810271|PMID:11845002|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12080183|PMID:12089190|PMID:12110684|PMID:12120234|PMID:12124706|PMID:12124743|PMID:12133923|PMID:12167682|PMID:12172395|PMID:12186867|PMID:12200467|PMID:12215837|PMID:12357328|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12414835|PMID:12422349|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12529365|PMID:12529713|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12651858|PMID:12658038|PMID:12679372|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12767731|PMID:12815607|PMID:1282016|PMID:12820707|PMID:12825076|PMID:12829453|PMID:1283148|PMID:1283149|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284477|PMID:1284529|PMID:1284531|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284542|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12940920|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14993601|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15241793|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:15357568|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15371908|PMID:15390350|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723|PMID:15614862|PMID:15638824|PMID:15640323|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15716623|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15744523|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15840711|PMID:15857421 9007908 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16417523|PMID:16429425|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678395|PMID:1673094|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:17062471|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:17127107|PMID:1712898|PMID:17137500|PMID:1715308|PMID:1716180|PMID:17172597|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17235394|PMID:17244607|PMID:17272608|PMID:17283574|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17380060|PMID:17398169|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17627383|PMID:17660831|PMID:17662673|PMID:17663888|PMID:17673962|PMID:17681820|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17968998|PMID:17975025|PMID:18078365|PMID:18167357|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18227622|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18301294|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18467194|PMID:18500736|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:18676185|PMID:18685558|PMID:18687795|PMID:18703788|PMID:18716917|PMID:18769034|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19166122|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19339519|PMID:19359498|PMID:19369536|PMID:1937486|PMID:19381710|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19774621|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20144563|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20351098|PMID:20351101|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20580320|PMID:20595578|PMID:20616359|PMID:20619026|PMID:20622033|PMID:20628052|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20880762|PMID:20923678 9007908 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:20932301|PMID:20932506|PMID:20949073|PMID:20974851|PMID:20976528|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21296036|PMID:21317048|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21538969|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983161|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22138491|PMID:22156145|PMID:22160394|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22787562|PMID:22842702|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22942289|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992393|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23017188|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23430892|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23483918|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23890012|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:23951356|PMID:23955087|PMID:2397487|PMID:23974870|PMID:24019231|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24561283|PMID:24586523|PMID:24631642|PMID:24633926|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095 9007908 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:25755212|PMID:25763566|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26003067|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26364555|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26526220|PMID:26540286|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26671754|PMID:26683699|PMID:26684250|PMID:26708955|PMID:26755536|PMID:26761715|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26864378|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27209008|PMID:27214204|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27533158|PMID:27577878|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28001373|PMID:28003230|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28174639|PMID:28194692|PMID:28196530|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28448979|PMID:28465863|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28957316|PMID:28968805|PMID:29040544|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:2915972|PMID:29168366|PMID:29173301|PMID:29178639|PMID:29202459|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29279204|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29750258|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29879995|PMID:29924856|PMID:29944384|PMID:29970830|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30348612|PMID:30389601|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30540547|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30592194|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30979683|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981 9007908 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:31310009|PMID:31328366|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31740593|PMID:31776420|PMID:31788264|PMID:31788424|PMID:31808782|PMID:31845523|PMID:31872980|PMID:31893350|PMID:31900120|PMID:31902693|PMID:31916691|PMID:31980526|PMID:31990467|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32026723|PMID:32113160|PMID:32126153|PMID:32143663|PMID:32150665|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32256364|PMID:32265312|PMID:32281737|PMID:32292813|PMID:32357917|PMID:32387800|PMID:32414100|PMID:32429104|PMID:32442342|PMID:32483343|PMID:32512765|PMID:32539862|PMID:32630227|PMID:32662942|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32906206|PMID:32934006|PMID:32935393|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33296276|PMID:33341408|PMID:33365035|PMID:33374015|PMID:33393655|PMID:33424627|PMID:33468668|PMID:33495079|PMID:33567498|PMID:33572515|PMID:33574797|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33855558|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086412|PMID:34099697|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34315429|PMID:34341587|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34583889|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34949574|PMID:34974990|PMID:34995514|PMID:34996830|PMID:35008443|PMID:35065958|PMID:35109852|PMID:35273129|PMID:35313924|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35652053|PMID:35698092|PMID:35816621|PMID:35857025|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36174992|PMID:36207272|PMID:36259570|PMID:36272381|PMID:36319933|PMID:36409994|PMID:36458240|PMID:36555865|PMID:36670555|PMID:36717774|PMID:36751320|PMID:3716676|PMID:5371902|PMID:63921865|PMID:6840743|PMID:7472820|PMID:7475569|PMID:7477025|PMID:7493947|PMID:7504969|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509683|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513293|PMID:7515303|PMID:7516234|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518409|PMID:7518829|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7524909|PMID:7524910|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526928|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7542223|PMID:7542347|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7684646|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7723568|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8406518|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8698344|PMID:8702904|PMID:8707304 9007908 Cftr CF transmembrane conductance regulator gene DOID:0080526 bronchiectasis 1 ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to PMID:8707306|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:8968585|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9135274|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9252549|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9459534|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9920885|PMID:9921909|PMID:9950364|PMID:9950763 9007908 Cftr CF transmembrane conductance regulator gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:2332 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:bile duct epithelium PMID:18988797|REF_RGD_ID:2307071 9007908 Cftr CF transmembrane conductance regulator gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 9007908 Cftr CF transmembrane conductance regulator gene DOID:0111862 congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital bilateral absence of the vas deferens | ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens PMID:10103316|PMID:10556281|PMID:10668931|PMID:10762539|PMID:10875853|PMID:10923036|PMID:11069835|PMID:11101688|PMID:11354633|PMID:11491164|PMID:11729110|PMID:12167682|PMID:12815607|PMID:12955726|PMID:1381723|PMID:14685937|PMID:14993601|PMID:15070876|PMID:15371902|PMID:15905293|PMID:16020494|PMID:16189704|PMID:16263954|PMID:16778595|PMID:16840743|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17489851|PMID:18456578|PMID:18507830|PMID:18567645|PMID:18685558|PMID:18951463|PMID:19092437|PMID:20301428|PMID:20460946|PMID:20691141|PMID:20837875|PMID:20880762|PMID:21228398|PMID:21520337|PMID:21658649|PMID:22842702|PMID:22992668|PMID:2344617|PMID:23810505|PMID:23891399|PMID:23974870|PMID:24033266|PMID:25087612|PMID:25251442|PMID:25741868|PMID:26014425|PMID:26467025|PMID:26708955|PMID:27171515|PMID:27447098|PMID:27469177|PMID:28492532|PMID:28603918|PMID:28800122|PMID:30873022|PMID:31268981|PMID:33374015|PMID:34196078|PMID:7506096|PMID:7539342|PMID:7573058|PMID:7684641|PMID:7684646|PMID:7691356|PMID:7739684|PMID:8530001|PMID:8556303|PMID:8662892|PMID:9239681|PMID:9435322|PMID:9598638 9007908 Cftr CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:7240710 20200619 OMIM 9007908 Cftr CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10225950|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10453741|PMID:10480369|PMID:10556281|PMID:10562297|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10612827|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790220|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10875853|PMID:10875876|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10993719|PMID:11005149|PMID:11038458|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11118444|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12007216|PMID:12070257|PMID:12070264|PMID:12080183|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12357328|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12414835|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12651858|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:1282016|PMID:12825076|PMID:1283148|PMID:1283149|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284477|PMID:1284534|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15241793|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:15357568|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15371908|PMID:1545465|PMID:15463888|PMID:15463898|PMID:15463907|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723|PMID:15614862|PMID:15638824|PMID:15640323|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15727251|PMID:15738290|PMID:15744523|PMID:15758663|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16189704|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16417523|PMID:16429425|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247 9007908 Cftr CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:1673094|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:17076271|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:17127107|PMID:1712898|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:1723056|PMID:17234733|PMID:17244607|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17380060|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594398|PMID:17617039|PMID:17627383|PMID:17662673|PMID:17663888|PMID:17692578|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18167357|PMID:18178635|PMID:18180206|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18301294|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18500736|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18951463|PMID:19014055|PMID:19014821|PMID:1903761|PMID:19092437|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:19372188|PMID:1937486|PMID:19406970|PMID:19447078|PMID:19459534|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20974851|PMID:20976528|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21296036|PMID:2135388|PMID:21354377|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21538969|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:22156145|PMID:2220803|PMID:22293084|PMID:22299590|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22545782|PMID:22569626|PMID:22572128|PMID:22573477|PMID:22591852|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785 9007908 Cftr CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:22698459|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23017188|PMID:23027855|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:23951356|PMID:23953609|PMID:2397487|PMID:23974870|PMID:24019231|PMID:24033266|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24633926|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25363320|PMID:25383785|PMID:25443471|PMID:25452595|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25553309|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26277102|PMID:26282188|PMID:26324139|PMID:26348465|PMID:26354092|PMID:26364555|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26526220|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26683699|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27145507|PMID:27158673|PMID:27171515|PMID:27174726|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27812499|PMID:27870577|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28152038|PMID:28163942|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28261631|PMID:28325531|PMID:28366727|PMID:28371569|PMID:28392015 9007908 Cftr CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:28408918|PMID:28419121|PMID:28440306|PMID:28456595|PMID:28465863|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28944235|PMID:28947035|PMID:28968805|PMID:29040544|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29750258|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29884450|PMID:29924856|PMID:29936070|PMID:29944384|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30297908|PMID:30348612|PMID:30389601|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30561903|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31759907|PMID:31776420|PMID:31788264|PMID:31788424|PMID:31808782|PMID:31845523|PMID:31872980|PMID:31883651|PMID:31900120|PMID:31916691|PMID:31978131|PMID:31980526|PMID:31990467|PMID:32003480|PMID:32020786|PMID:32113160|PMID:32126153|PMID:32150665|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32265312|PMID:32281737|PMID:32357917|PMID:32414100|PMID:32429104|PMID:32483343|PMID:32484936|PMID:32512765|PMID:32539862|PMID:32662942|PMID:32687833|PMID:32734384|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32906206|PMID:32934006|PMID:32935393|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33424627|PMID:33468668|PMID:33470563|PMID:33495079|PMID:33512069|PMID:33567498|PMID:33572515|PMID:33574797|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33855558|PMID:33883100|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34099697|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34405919|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34583889|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34860163|PMID:34888852|PMID:34949556|PMID:34974990|PMID:34996830|PMID:35008443|PMID:35109852|PMID:35273129|PMID:35313924|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35652053|PMID:35698092|PMID:35816621|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36207272|PMID:36249513|PMID:36264955|PMID:36272381|PMID:36319933|PMID:36409994|PMID:36437957|PMID:36458240|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36828084|PMID:3716676|PMID:5371902|PMID:63921865|PMID:6840743|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505690|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310 9007908 Cftr CF transmembrane conductance regulator gene DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:7509683|PMID:7509684|PMID:7512860|PMID:7512993|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516234|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526928|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542347|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684644|PMID:7684646|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8829633|PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9135274|PMID:9150159|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9920885|PMID:9921909|PMID:9950364|PMID:9950763 9007908 Cftr CF transmembrane conductance regulator gene DOID:10211 cholelithiasis ISO RGD:619566 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (human) PMID:12184527|REF_RGD_ID:21408573 9007908 Cftr CF transmembrane conductance regulator gene DOID:10652 Alzheimer's disease ISO RGD:619566 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus PMID:14757935|REF_RGD_ID:11566025 9007908 Cftr CF transmembrane conductance regulator gene DOID:10808 gastric ulcer treatment ISO RGD:2332 D RGD:9068941 20200609 RGD PMID:23596793|REF_RGD_ID:11567229 9007908 Cftr CF transmembrane conductance regulator gene DOID:11132 prostatic hypertrophy ISO RGD:619566 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:25546515|REF_RGD_ID:11566048 9007908 Cftr CF transmembrane conductance regulator gene DOID:11372 megacolon ISO RGD:619566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9007908 Cftr CF transmembrane conductance regulator gene DOID:11383 cryptorchidism ISO RGD:10331 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:testis PMID:22777528|REF_RGD_ID:11567213 9007908 Cftr CF transmembrane conductance regulator gene DOID:12336 male infertility ISO RGD:619566 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Male infertility PMID:11180668|PMID:11547256|PMID:11883825|PMID:12124706|PMID:15070876|PMID:15858154|PMID:15952991|PMID:15987793|PMID:16429425|PMID:17003641|PMID:17594398|PMID:17617039|PMID:18301294|PMID:18456578|PMID:19014055|PMID:19212293|PMID:19843100|PMID:20021716|PMID:20460946|PMID:21416780|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22156145|PMID:22310382|PMID:22975760|PMID:22992668|PMID:23082198|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24082139|PMID:25033378|PMID:25087612|PMID:25304080|PMID:25583415|PMID:25741868|PMID:25910067|PMID:26467025|PMID:26526220|PMID:26755536|PMID:26990548|PMID:27086061|PMID:27171515|PMID:27214204|PMID:27469177|PMID:27659740|PMID:27738188|PMID:28129809|PMID:28492532|PMID:28544683|PMID:28603918|PMID:31036917|PMID:32414100|PMID:33574797|PMID:34190021|PMID:34426522|PMID:7586569|PMID:7739684|PMID:9804160 9007908 Cftr CF transmembrane conductance regulator gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:10331 D RGD:9068941 20200609 RGD DNA:mutation: : PMID:20015999|REF_RGD_ID:4140389 9007908 Cftr CF transmembrane conductance regulator gene DOID:13166 allergic bronchopulmonary aspergillosis ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:11243954|REF_RGD_ID:4140482 9007908 Cftr CF transmembrane conductance regulator gene DOID:1324 lung cancer susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:deletion, SNP, haplotype: :p.F508del, rs10487372 (human) PMID:20116881|REF_RGD_ID:11566029 9007908 Cftr CF transmembrane conductance regulator gene DOID:13258 typhoid fever susceptibility ISO RGD:619566 D RGD:9068941 20200716 RGD DNA:repeats: :CA repeats(human) PMID:16078047|REF_RGD_ID:35673348 9007908 Cftr CF transmembrane conductance regulator gene DOID:13316 exocrine pancreatic insufficiency ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:insertion:exon:c.3904_3905insT (human) PMID:9254853|REF_RGD_ID:4140401 9007908 Cftr CF transmembrane conductance regulator gene DOID:13316 exocrine pancreatic insufficiency onset ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human) PMID:8535440|REF_RGD_ID:4140448 9007908 Cftr CF transmembrane conductance regulator gene DOID:13406 pulmonary sarcoidosis ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations:whole blood : PMID:20722470|REF_RGD_ID:4139905 9007908 Cftr CF transmembrane conductance regulator gene DOID:13564 aspergillosis severity ISO RGD:10331 D RGD:9068941 20200716 RGD PMID:22135344|REF_RGD_ID:35673332 9007908 Cftr CF transmembrane conductance regulator gene DOID:13580 cholestasis ISO RGD:2332 D RGD:9068941 20200609 RGD mRNA,Protein:increased expression PMID:15605366|REF_RGD_ID:1599598 9007908 Cftr CF transmembrane conductance regulator gene DOID:14227 azoospermia ISO RGD:619566 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Obstructive azoospermia PMID:10103316|PMID:10341008|PMID:10425036|PMID:10556281|PMID:10571949|PMID:10601093|PMID:10653141|PMID:10668931|PMID:10746558|PMID:10782933|PMID:10801389|PMID:10812063|PMID:10869121|PMID:10875853|PMID:10909845|PMID:10923036|PMID:10950058|PMID:10963013|PMID:11069835|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11280952|PMID:11303517|PMID:11354633|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11547256|PMID:11729110|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11788090|PMID:11883825|PMID:11924117|PMID:12007216|PMID:12014388|PMID:12124706|PMID:12133923|PMID:12167682|PMID:12400067|PMID:12767731|PMID:1283148|PMID:1284534|PMID:1284535|PMID:1284639|PMID:12955726|PMID:1370875|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381723|PMID:1384321|PMID:1384326|PMID:14618962|PMID:14685937|PMID:14963811|PMID:14993601|PMID:15070876|PMID:15097853|PMID:15141088|PMID:15246977|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15371902|PMID:15482777|PMID:15486385|PMID:15536480|PMID:15618592|PMID:15619635|PMID:15640323|PMID:15727251|PMID:15775704|PMID:15857421|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15952991|PMID:15987793|PMID:16020494|PMID:16049310|PMID:16075239|PMID:16126774|PMID:16134171|PMID:16189704|PMID:16263954|PMID:16266832|PMID:16283887|PMID:16429425|PMID:16436643|PMID:16478680|PMID:16481891|PMID:16484308|PMID:1673094|PMID:16778595|PMID:16801189|PMID:16840743|PMID:1695717|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1723032|PMID:17314234|PMID:17329263|PMID:17407485|PMID:17413420|PMID:17489851|PMID:1756602|PMID:17572159|PMID:17576681|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17627383|PMID:17662673|PMID:17681820|PMID:17692578|PMID:17719933|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18234567|PMID:18301294|PMID:18394117|PMID:18456578|PMID:18467194|PMID:18501000|PMID:18507830|PMID:18567645|PMID:18685558|PMID:18687795|PMID:18778819|PMID:18796364|PMID:18951463|PMID:19014055|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19318035|PMID:1937486|PMID:19406970|PMID:19459534|PMID:19707853|PMID:1977306|PMID:19812525|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19897426|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20059485|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20460946|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20797923|PMID:20837875|PMID:20849526|PMID:20923678|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21198395|PMID:21228398|PMID:21296036|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21507732|PMID:21520337|PMID:21538969|PMID:21594800|PMID:21658649|PMID:21679131|PMID:21804385|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:22156145|PMID:2220803|PMID:22310382|PMID:22332135|PMID:2233932|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:22680785|PMID:22842702|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23420618|PMID:23436935|PMID:2344617|PMID:2349952|PMID:23613805|PMID:23656801|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23810505|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24082139|PMID:24106596|PMID:24375076|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24451227|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25033378|PMID:25042876|PMID:25087612|PMID:25148434|PMID:25251442|PMID:25287046|PMID:25304080|PMID:25330774|PMID:25583415 9007908 Cftr CF transmembrane conductance regulator gene DOID:14227 azoospermia ISO RGD:619566 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Obstructive azoospermia PMID:25608981|PMID:25636364|PMID:25697321|PMID:25698453|PMID:2570460|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25910067|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26095523|PMID:26149808|PMID:26277102|PMID:26324139|PMID:26467025|PMID:26526220|PMID:26538069|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26708955|PMID:26755536|PMID:26800689|PMID:26846474|PMID:26900683|PMID:26911355|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27086061|PMID:27171515|PMID:27209008|PMID:27214204|PMID:27298017|PMID:27334259|PMID:27364092|PMID:27447098|PMID:27469177|PMID:27577878|PMID:27659740|PMID:27660821|PMID:27673710|PMID:27738188|PMID:27805836|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28419121|PMID:28456595|PMID:28492530|PMID:28492532|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28655774|PMID:28736296|PMID:28801929|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29261177|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29504914|PMID:29589582|PMID:29614238|PMID:29668297|PMID:29805046|PMID:29936070|PMID:29944384|PMID:30030066|PMID:30046002|PMID:30089726|PMID:30279124|PMID:30487145|PMID:30561903|PMID:30600599|PMID:30602999|PMID:30609409|PMID:30888834|PMID:30930780|PMID:30938940|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31310009|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31776420|PMID:31788424|PMID:31808782|PMID:31980526|PMID:32414100|PMID:32429104|PMID:32761997|PMID:32935393|PMID:33020115|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33365035|PMID:33374015|PMID:33572515|PMID:33574797|PMID:33713579|PMID:33972190|PMID:34190021|PMID:34196078|PMID:34405919|PMID:34426522|PMID:34782259|PMID:34996830|PMID:35690514|PMID:36272381|PMID:7506096|PMID:7508183|PMID:7508414|PMID:7509683|PMID:7512860|PMID:7517267|PMID:7522329|PMID:7524913|PMID:7529319|PMID:7533604|PMID:7537148|PMID:7539342|PMID:7540133|PMID:7544320|PMID:7544788|PMID:7560099|PMID:7573058|PMID:7586569|PMID:7599637|PMID:7680769|PMID:7682884|PMID:7683628|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7689013|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7739684|PMID:7789957|PMID:8092189|PMID:8421472|PMID:8556303|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8740923|PMID:8825927|PMID:8844211|PMID:8886242|PMID:8956039|PMID:8968585|PMID:9108869|PMID:9135274|PMID:9235853|PMID:9259194|PMID:9259197|PMID:9272157|PMID:9272738|PMID:9435322|PMID:9439669|PMID:9459534|PMID:9493456|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9725922|PMID:9788722|PMID:9804160|PMID:9921909|PMID:9950763 9007908 Cftr CF transmembrane conductance regulator gene DOID:14766 renal agenesis ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11119745 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:7240710 20180130 OMIM 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:10026154|PMID:10050655|PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10228103|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10419506|PMID:10425036|PMID:10425081|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10453741|PMID:10462611|PMID:10480369|PMID:10503604|PMID:10515411|PMID:10517260|PMID:10556281|PMID:10562297|PMID:10562541|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10651488|PMID:10652351|PMID:10653140|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10736180|PMID:10738007|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790220|PMID:10790222|PMID:10790225|PMID:10794365|PMID:10798353|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10827969|PMID:10834512|PMID:10836331|PMID:10852925|PMID:10862085|PMID:10862786|PMID:10866956|PMID:10869121|PMID:10874326|PMID:10875853|PMID:10875874|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10922396|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980550|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11001817|PMID:11005149|PMID:11022925|PMID:11025834|PMID:11038458|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11102992|PMID:11108532|PMID:11118444|PMID:11119745|PMID:11137998|PMID:11158459|PMID:11168023|PMID:11168024|PMID:11171377|PMID:11180668|PMID:11186891|PMID:11216394|PMID:11219165|PMID:11242048|PMID:11276378|PMID:11278813|PMID:11280952|PMID:11288708|PMID:11288718|PMID:11295849|PMID:11303509|PMID:11303517|PMID:11336127|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11471192|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11788611|PMID:11796430|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11823443|PMID:11845002|PMID:11882668|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:11950844|PMID:12000363|PMID:12001283|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12070264|PMID:12080183|PMID:12084728|PMID:12089190|PMID:12110684|PMID:12116247|PMID:12120234|PMID:12124706|PMID:12124743|PMID:12127423|PMID:12133923|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12183675|PMID:12186867|PMID:12200467|PMID:12215837|PMID:12357328|PMID:12361483|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12414835|PMID:12422349|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12529365|PMID:12529713|PMID:12530290|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12630722|PMID:12651858|PMID:12651880|PMID:12658038|PMID:12679372|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12783301|PMID:12815607|PMID:1282016|PMID:12820707|PMID:12825076|PMID:1282900|PMID:12829453|PMID:1283148|PMID:1283149|PMID:1283151|PMID:12833420|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284468|PMID:1284471|PMID:1284477|PMID:1284478|PMID:1284529|PMID:1284530|PMID:1284531|PMID:1284534|PMID:1284535|PMID:1284537|PMID:1284538|PMID:1284539|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284627|PMID:1284639|PMID:1284889|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12913074|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12939925|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1372093|PMID:1373934|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:1384328|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14641997|PMID:14685259|PMID:14685937|PMID:14696845|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15046061|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15218997|PMID:15241793|PMID:15246977|PMID:15284228|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:15357568|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371905|PMID:15371907|PMID:15371908|PMID:15390350|PMID:1545465|PMID:15463840|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15507674|PMID:15509635|PMID:15520400|PMID:15531750|PMID:15536480|PMID:15537723|PMID:15562283|PMID:15591474|PMID:15614862|PMID:15618592|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15666307|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15705389|PMID:15716623|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15744829|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15840711|PMID:15853950|PMID:15857421|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202788|PMID:16202790|PMID:16212675|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16311287|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16417523|PMID:16423550|PMID:16429425|PMID:16435054|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16493442|PMID:16499810|PMID:16572913|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678395|PMID:16678503|PMID:16714368|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:16822950|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16915933|PMID:16931591|PMID:16938751|PMID:1695717|PMID:16963320|PMID:16980811|PMID:16989640|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17043152|PMID:17048214|PMID:17062471|PMID:17076271|PMID:17095337|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:17127107|PMID:1712898|PMID:1712984|PMID:17137500|PMID:1715308|PMID:1716180|PMID:17172597|PMID:17175965|PMID:17186573|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17234733|PMID:17235394|PMID:17244607|PMID:17251329|PMID:17272608|PMID:17283574|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17378246|PMID:17380060|PMID:17398169|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17525091|PMID:17539902|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17582383|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17627383|PMID:17660831|PMID:17662673|PMID:17663888|PMID:17673962|PMID:17678620|PMID:17681820|PMID:17690208|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17823699|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17968998|PMID:17975025|PMID:17981921|PMID:18056267|PMID:18078365|PMID:18167357|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:18227622|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18292811|PMID:18301294|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18350634|PMID:18373402|PMID:18394117|PMID:18414213|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18497194|PMID:18499536|PMID:18500736|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:1867536|PMID:18676185|PMID:18683213|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18766277|PMID:18769034|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18832460|PMID:18937943|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19017867|PMID:19019741|PMID:19019984|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19139070|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19332488|PMID:19339519|PMID:19359437|PMID:19359498|PMID:19369536|PMID:19372188|PMID:1937486|PMID:19381710|PMID:19383231|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19625487|PMID:19645745|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19763152|PMID:1977306|PMID:19774621|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19917960|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052366|PMID:20052766|PMID:20059485|PMID:20100616|PMID:20110398|PMID:20116881|PMID:20144563|PMID:20150177|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20190016|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20307669|PMID:20332619|PMID:20351098|PMID:20351101|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20460947|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551307|PMID:20551465|PMID:20558957|PMID:20560922|PMID:20562583|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20616359|PMID:20619026|PMID:20622033|PMID:20627915|PMID:20628052|PMID:20639189|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20714932|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20875776|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20972246|PMID:20974851|PMID:20976528|PMID:20977904|PMID:20981092|PMID:21059651|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21254931|PMID:21296036|PMID:21317048|PMID:21329479|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21455600|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21521896|PMID:21536503|PMID:21538969|PMID:21576373|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21673536|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21746847|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21837768|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21917531|PMID:21931512|PMID:21948798|PMID:21965669|PMID:21976147|PMID:21983161|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22052625|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22119790|PMID:22137130|PMID:22138447|PMID:22138491|PMID:22148899|PMID:22156145|PMID:22160394|PMID:22191729|PMID:22194755 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:2220803|PMID:22210114|PMID:22271776|PMID:22274833|PMID:22293084|PMID:22299590|PMID:22300503|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22327961|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22406018|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22550062|PMID:22569626|PMID:22572128|PMID:22572733|PMID:22573477|PMID:22591852|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22722932|PMID:22724884|PMID:22768251|PMID:22787562|PMID:22798282|PMID:22842702|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22896710|PMID:22942289|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992393|PMID:22992668|PMID:22995991|PMID:22999299|PMID:23000902|PMID:2300168|PMID:23017188|PMID:23017645|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23083715|PMID:23089694|PMID:23092102|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23248597|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23349053|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23401342|PMID:23405520|PMID:23420618|PMID:23430892|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:23483918|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23554779|PMID:23555973|PMID:23587593|PMID:23590265|PMID:23612672|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23712087|PMID:23716676|PMID:23721890|PMID:23727931|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23790242|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23890012|PMID:23890029|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:2395135|PMID:23951356|PMID:23953609|PMID:23955087|PMID:2397487|PMID:23974870|PMID:24002981|PMID:24019231|PMID:24022636|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24326373|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24434749|PMID:24435787|PMID:24440180|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24513262|PMID:24517344|PMID:24525081|PMID:24551851|PMID:24556927|PMID:24559724|PMID:24561283|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24633926|PMID:24649380|PMID:24671311|PMID:24687356|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24777605|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25010724|PMID:25016221|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25093022|PMID:25097766|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25246892|PMID:25251442|PMID:25266159|PMID:25266997|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25403292|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25459562|PMID:25473543|PMID:25481366|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25556971|PMID:25569187|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25593612|PMID:25608981|PMID:25629612|PMID:25636364|PMID:25640679|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25739099 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25898554|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25922769|PMID:25940043|PMID:25944907|PMID:25956447|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26003067|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26075876|PMID:26087173|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26096753|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26214305|PMID:26229102|PMID:26277102|PMID:26282188|PMID:26293390|PMID:26324139|PMID:26334177|PMID:26335950|PMID:26348465|PMID:26354092|PMID:26358851|PMID:26364555|PMID:26385858|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26496611|PMID:26500004|PMID:26526220|PMID:26538069|PMID:26540286|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26683699|PMID:26684250|PMID:26708955|PMID:26730394|PMID:26755536|PMID:26761715|PMID:26795017|PMID:26800689|PMID:26814065|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26864378|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27035618|PMID:27049043|PMID:27065010|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27182737|PMID:27185048|PMID:27195969|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27287722|PMID:27298017|PMID:27311679|PMID:27324553|PMID:27334259|PMID:27340661|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27488443|PMID:27533158|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27706244|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27912062|PMID:27917292|PMID:27996019|PMID:28001373|PMID:28003230|PMID:28003367|PMID:28027573|PMID:28040058|PMID:28068001|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28152038|PMID:28163942|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28242630|PMID:28261631|PMID:28325531|PMID:28332257|PMID:28340353|PMID:28348582|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28448979|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28471435|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28575328|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28687971|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28784578|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28805948|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28944235|PMID:28947035|PMID:28957316|PMID:28968805|PMID:28978796|PMID:28992757|PMID:29035608|PMID:29040544|PMID:29055982|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:2915972|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29307731|PMID:29327948|PMID:29333815|PMID:29351449|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29475947|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29569753|PMID:29581173|PMID:29589582|PMID:29590070 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29750258|PMID:29754320|PMID:29779145|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29886024|PMID:29924856|PMID:29936070|PMID:29944384|PMID:29951967|PMID:29970830|PMID:29983195|PMID:29995784|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30060175|PMID:30081288|PMID:30089726|PMID:30091983|PMID:30134826|PMID:30144894|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30348612|PMID:30366773|PMID:30374031|PMID:30379828|PMID:30389600|PMID:30389601|PMID:30419605|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30540547|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30588852|PMID:30592194|PMID:30595473|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30617673|PMID:30661751|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805499|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30979466|PMID:30979683|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31159747|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31311920|PMID:31328366|PMID:31331863|PMID:31344706|PMID:31350925|PMID:31357024|PMID:31377750|PMID:31378749|PMID:31406621|PMID:31420175|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31561038|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31709488|PMID:31740593|PMID:31759907|PMID:31776420|PMID:31785789|PMID:31788264|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31882543|PMID:31883651|PMID:31893350|PMID:31900120|PMID:31902693|PMID:31916691|PMID:31940241|PMID:31976142|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003094|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32025909|PMID:32026723|PMID:32084388|PMID:32103733|PMID:32113160|PMID:32126153|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32220772|PMID:32227567|PMID:32244302|PMID:32256364|PMID:32265312|PMID:32281737|PMID:32292813|PMID:32352720|PMID:32357917|PMID:32387800|PMID:32414100|PMID:32429104|PMID:32442342|PMID:32447501|PMID:32483343|PMID:32484936|PMID:32508047|PMID:32512765|PMID:32539862|PMID:32563932|PMID:32596391|PMID:32630227|PMID:32633402|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32757986|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32848127|PMID:32906206|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33093640|PMID:33097431|PMID:33118704|PMID:33138251|PMID:33138774|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33278322|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33402933|PMID:33424627|PMID:33432171|PMID:33468668|PMID:33470563|PMID:33495079|PMID:33502066|PMID:33504063|PMID:33512069|PMID:33567498|PMID:33572515|PMID:33574797|PMID:33577586|PMID:33613790|PMID:33663443|PMID:33686728|PMID:33713579|PMID:33747920|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33807078|PMID:33836782|PMID:33855558|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33937153|PMID:33946859|PMID:33949881|PMID:33972190|PMID:34057205|PMID:34071719|PMID:34086412|PMID:34086689|PMID:34099697|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:34315429|PMID:34341587|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34415821|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34673937|PMID:34680554|PMID:34714360|PMID:34740355|PMID:34755701|PMID:34764021|PMID:34765005|PMID:34782259|PMID:34814176|PMID:34842364|PMID:34842611|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34906502|PMID:34931337|PMID:34949556|PMID:34949574|PMID:34952832|PMID:34964109|PMID:34973142|PMID:34974990|PMID:34995514|PMID:34996830|PMID:34998674|PMID:35008443|PMID:35011616|PMID:35065958|PMID:35096544|PMID:35109852|PMID:35119551|PMID:35171259|PMID:35273129|PMID:35313924|PMID:35328596|PMID:35365085|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35650428|PMID:35652053|PMID:35690514|PMID:35697137|PMID:35698092|PMID:35753512|PMID:35816621|PMID:35857025|PMID:35894192|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36142302|PMID:36174992|PMID:36207272|PMID:36249513|PMID:36259570|PMID:36264955|PMID:36272381|PMID:36286063|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36409994|PMID:36428953|PMID:36437957|PMID:36458240|PMID:36552859|PMID:36555865|PMID:36567205|PMID:36604502|PMID:36631132|PMID:36650664|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36828084|PMID:36834620|PMID:36982273|PMID:3716676|PMID:37327085|PMID:37431359|PMID:5371902|PMID:63921865|PMID:6840743|PMID:6963320|PMID:7472820|PMID:7475569|PMID:7477025|PMID:7493947|PMID:7504969|PMID:7504970|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509231|PMID:7509310|PMID:7509683|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513294|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516233|PMID:7516234|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518409|PMID:7518829|PMID:7519167|PMID:7520022|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7524909|PMID:7524910|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526927|PMID:7526928|PMID:7526929|PMID:7527269|PMID:7529319|PMID:7529962|PMID:7530553|PMID:7530719|PMID:7531541|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539210|PMID:7539342|PMID:754013|PMID:7540133|PMID:7540587|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7542223|PMID:7542347|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7682884|PMID:7682896|PMID:7682984|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7684646|PMID:7686336|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689898|PMID:7689902|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7694298|PMID:7723568|PMID:7739684|PMID:7757078|PMID:7789957|PMID:7868128|PMID:7881429|PMID:8081395|PMID:8092189|PMID:8097485|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8445619|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8563237|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8680407|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723693|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8800923|PMID:8818956|PMID:8825494|PMID:8825927|PMID:8829633|PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8865181|PMID:8880589|PMID:8880910|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8922636|PMID:8947061 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis PMID:8956039|PMID:8968585|PMID:8992448|PMID:9003498|PMID:9003508|PMID:9017943|PMID:9039981|PMID:9043501|PMID:9043706|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9108869|PMID:9135274|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9164328|PMID:9222768|PMID:9235853|PMID:9239681|PMID:9252549|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9298826|PMID:9305991|PMID:9321772|PMID:9345100|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9452112|PMID:9459003|PMID:9459534|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9678705|PMID:9683582|PMID:9691989|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9842999|PMID:9849891|PMID:9853928|PMID:9881185|PMID:9895335|PMID:9915972|PMID:9917439|PMID:9920885|PMID:9921909|PMID:9922378|PMID:9950364|PMID:9950763 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis disease_progression ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:17099022|REF_RGD_ID:4140392 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis no_association ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.R117H(human) PMID:19880712|REF_RGD_ID:4140393 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA,protein:mutations,substitutions:exon: PMID:2344617|REF_RGD_ID:4140394 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:insertion:exon:c.3904_3905insT (human) PMID:9254853|REF_RGD_ID:4140401 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.W1282X(human) PMID:1370365|REF_RGD_ID:4140436 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.F508C, S1251N PMID:1284535|REF_RGD_ID:4140438 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds;c. 2143delT (human) PMID:1283149|REF_RGD_ID:4140439 9007908 Cftr CF transmembrane conductance regulator gene DOID:1485 cystic fibrosis severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:splice-site mutation:intron: 3272-26A>G (human) PMID:11732487|REF_RGD_ID:4140450 9007908 Cftr CF transmembrane conductance regulator gene DOID:1724 duodenal ulcer ISO RGD:2332 D RGD:9068941 20200609 RGD PMID:15905414|REF_RGD_ID:1599596 9007908 Cftr CF transmembrane conductance regulator gene DOID:1793 pancreatic cancer no_association ISO RGD:619566 D RGD:9068941 20200609 RGD PMID:17072959|REF_RGD_ID:2317157 9007908 Cftr CF transmembrane conductance regulator gene DOID:1793 pancreatic cancer onset ISO RGD:619566 D RGD:9068941 20200609 RGD PMID:16227367|REF_RGD_ID:2317156 9007908 Cftr CF transmembrane conductance regulator gene DOID:2841 asthma susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:deletion: :p.F508del(human) PMID:20298391|REF_RGD_ID:4140387 9007908 Cftr CF transmembrane conductance regulator gene DOID:303 substance-related disorder ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9007908 Cftr CF transmembrane conductance regulator gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.M470V(human) PMID:18652532|REF_RGD_ID:4140431 9007908 Cftr CF transmembrane conductance regulator gene DOID:3225 tracheal disease ISO RGD:10331 D RGD:9068941 20200609 RGD DNA:deletion,mutation: : PMID:18450781|REF_RGD_ID:4140433 9007908 Cftr CF transmembrane conductance regulator gene DOID:4450 renal cell carcinoma ISO RGD:619566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 9007908 Cftr CF transmembrane conductance regulator gene DOID:4483 rhinitis ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16083808 9007908 Cftr CF transmembrane conductance regulator gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9007908 Cftr CF transmembrane conductance regulator gene DOID:4988 alcoholic pancreatitis ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.L1156F, Q1352H (human) PMID:26089335|REF_RGD_ID:11566036 9007908 Cftr CF transmembrane conductance regulator gene DOID:4989 pancreatitis ISO RGD:619566 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pancreatitis | ClinVar Annotator: match by term: Recurrent pancreatitis PMID:10103316|PMID:10425036|PMID:10601093|PMID:10782933|PMID:10801389|PMID:10869121|PMID:10875853|PMID:10950058|PMID:10963013|PMID:11168024|PMID:11186891|PMID:11280952|PMID:11354633|PMID:11547256|PMID:11733566|PMID:11924117|PMID:12014388|PMID:12400067|PMID:12759680|PMID:1370875|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1384321|PMID:14618962|PMID:15097853|PMID:15141088|PMID:15151509|PMID:15246977|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15482777|PMID:15640323|PMID:15857421|PMID:15905293|PMID:16075239|PMID:16283887|PMID:16478680|PMID:1673094|PMID:17003641|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1723032|PMID:1756602|PMID:17572159|PMID:17594397|PMID:17681820|PMID:17692578|PMID:18178635|PMID:18180206|PMID:18234567|PMID:18394117|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18796364|PMID:19176844|PMID:19227414|PMID:19318346|PMID:19459534|PMID:19837664|PMID:19878303|PMID:19885835|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20460946|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20667826|PMID:20687163|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20837875|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21228398|PMID:21411740|PMID:21486785|PMID:21520337|PMID:21594800|PMID:21658649|PMID:21804385|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:2220803|PMID:22332135|PMID:2233932|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22591852|PMID:22658665|PMID:22680785|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23104983|PMID:23168765|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23436935|PMID:23613805|PMID:23656801|PMID:23721890|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24375076|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24451227|PMID:24559724|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25033378|PMID:25042876|PMID:25148434|PMID:25330774|PMID:25608981|PMID:25636364|PMID:25697321|PMID:2570460|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25824995|PMID:25910067|PMID:25981758|PMID:26006199|PMID:26095523|PMID:26149808|PMID:26436105|PMID:26467025|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26708955|PMID:26800689|PMID:26911355|PMID:26976279|PMID:26989879|PMID:27171515|PMID:27298017|PMID:27334259|PMID:27469177|PMID:27577878|PMID:27660821|PMID:27673710|PMID:27738188|PMID:27805836|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28492530|PMID:28492532|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29261177|PMID:29292091|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29589582|PMID:29614238|PMID:29668297|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29944384|PMID:30030066|PMID:30089726|PMID:30230364|PMID:30279124|PMID:30487145|PMID:30600599|PMID:30602999|PMID:30609409|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31310009|PMID:31350925|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31788424|PMID:31980526|PMID:31990467|PMID:32429104|PMID:32761997|PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33365035|PMID:33375403|PMID:33468668|PMID:33572515|PMID:33713579|PMID:34405919|PMID:34426522|PMID:7517267|PMID:7533604|PMID:7537148|PMID:7540133|PMID:7560099|PMID:7691813|PMID:7789957|PMID:8092189|PMID:8605891|PMID:8659542|PMID:8740923|PMID:8844211|PMID:8886242|PMID:9135274|PMID:9235853|PMID:9272157|PMID:9272738|PMID:9439669|PMID:9493456|PMID:9618063|PMID:9921909 9007908 Cftr CF transmembrane conductance regulator gene DOID:5223 infertility ISO RGD:619566 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Infertility PMID:10439967|PMID:10801389|PMID:10869121|PMID:10875853|PMID:10970190|PMID:11025834|PMID:11168024|PMID:11303517|PMID:11354633|PMID:11845002|PMID:11883825|PMID:11938439|PMID:12014388|PMID:12167682|PMID:12454843|PMID:12752573|PMID:1284535|PMID:1379210|PMID:1384326|PMID:15097853|PMID:15537723|PMID:15619635|PMID:15727251|PMID:15857421|PMID:15858154|PMID:16134171|PMID:16193325|PMID:16484308|PMID:17003641|PMID:17489851|PMID:17572159|PMID:17594397|PMID:17681820|PMID:18178635|PMID:18195584|PMID:18501000|PMID:18687795|PMID:19092444|PMID:19587087|PMID:1977306|PMID:20021716|PMID:20706124|PMID:20837875|PMID:20932301|PMID:21184098|PMID:21198395|PMID:21499205|PMID:21520337|PMID:21658649|PMID:21804385|PMID:22020151|PMID:22271776|PMID:22427236|PMID:22658665|PMID:22678879|PMID:22975760|PMID:23613805|PMID:23716676|PMID:23721890|PMID:23791427|PMID:23846440|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24418186|PMID:24451227|PMID:24586523|PMID:24631642|PMID:25033378|PMID:25287046|PMID:25346962|PMID:25741868|PMID:25797027|PMID:25824995|PMID:25910067|PMID:25963003|PMID:26436105|PMID:26467025|PMID:26538069|PMID:26708955|PMID:26898888|PMID:26900683|PMID:27171515|PMID:27214204|PMID:27738188|PMID:28492532|PMID:28544683|PMID:28603918|PMID:28830496|PMID:29589582|PMID:29805046|PMID:30488522|PMID:31088717|PMID:31488014|PMID:31916691|PMID:31990467|PMID:32784480|PMID:33572515|PMID:33768849|PMID:33946859|PMID:34426522|PMID:34782259|PMID:34995514|PMID:34996830|PMID:7508183|PMID:7513293|PMID:7517264|PMID:7525963|PMID:7543317|PMID:7682884|PMID:7686336|PMID:7691344|PMID:8605891|PMID:8644755|PMID:9108869|PMID:9272157|PMID:9439669|PMID:9804160|PMID:9921909 9007908 Cftr CF transmembrane conductance regulator gene DOID:5419 schizophrenia ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9007908 Cftr CF transmembrane conductance regulator gene DOID:5733 salpingitis ISO RGD:10331 D RGD:9068941 20200609 RGD PMID:19012687|REF_RGD_ID:11566047 9007908 Cftr CF transmembrane conductance regulator gene DOID:5733 salpingitis ISO RGD:619566 D RGD:9068941 20200609 RGD PMID:19012687|REF_RGD_ID:11566047 9007908 Cftr CF transmembrane conductance regulator gene DOID:5733 salpingitis treatment ISO RGD:2332 D RGD:9068941 20200609 RGD PMID:19012687|REF_RGD_ID:11566047 9007908 Cftr CF transmembrane conductance regulator gene DOID:5844 myocardial infarction ISO RGD:10331 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:23221371|REF_RGD_ID:11566046 9007908 Cftr CF transmembrane conductance regulator gene DOID:630 genetic disease ISO RGD:619566 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10103316|PMID:10200050|PMID:10376575|PMID:10425036|PMID:10556281|PMID:10639207|PMID:10668931|PMID:10782933|PMID:10875853|PMID:10923036|PMID:10950058|PMID:10963013|PMID:11069835|PMID:11186891|PMID:11280952|PMID:11354633|PMID:11491164|PMID:11547256|PMID:11729110|PMID:11733566|PMID:11796591|PMID:11924117|PMID:12400067|PMID:12503104|PMID:12767731|PMID:1370365|PMID:1370875|PMID:1377276|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381723|PMID:1384321|PMID:14551163|PMID:14618962|PMID:14685937|PMID:14993601|PMID:15070876|PMID:15141088|PMID:1518030|PMID:15246977|PMID:15287992|PMID:1536179|PMID:15367919|PMID:15371902|PMID:15480987|PMID:15482777|PMID:15640323|PMID:15905293|PMID:16020494|PMID:16075239|PMID:16263954|PMID:16272798|PMID:16283068|PMID:16283887|PMID:16478680|PMID:1673094|PMID:16778595|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16980811|PMID:17003641|PMID:17035430|PMID:17048214|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:17314234|PMID:17329263|PMID:17475917|PMID:17489851|PMID:1756602|PMID:17576681|PMID:17692578|PMID:18178635|PMID:18180206|PMID:18234567|PMID:18394117|PMID:18456578|PMID:18507830|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18796364|PMID:19092437|PMID:19176844|PMID:19227414|PMID:19339519|PMID:19459534|PMID:19837664|PMID:19878303|PMID:19885835|PMID:19925455|PMID:1997384|PMID:20021716|PMID:20031113|PMID:20116881|PMID:20301295|PMID:20301428|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20977904|PMID:21097845|PMID:21111762|PMID:21152102|PMID:21228398|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21520337|PMID:21594800|PMID:21658649|PMID:21783433|PMID:21907281|PMID:21965669|PMID:21976147|PMID:21983488|PMID:22020151|PMID:2210767|PMID:2210768|PMID:2220803|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22449949|PMID:22569626|PMID:22658665|PMID:22680785|PMID:22842702|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23067305|PMID:23104983|PMID:23168765|PMID:23276700|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23436935|PMID:2344617|PMID:23656801|PMID:23751316|PMID:23781395|PMID:2378364|PMID:23810505|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24243928|PMID:24375076|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24451227|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24958810|PMID:24973281|PMID:25033378|PMID:25042876|PMID:25087612|PMID:25148434|PMID:25251442|PMID:25330774|PMID:25333069|PMID:25525159|PMID:25580864|PMID:25608981|PMID:25636364|PMID:25697321|PMID:2570460|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25763566|PMID:25797027|PMID:25869325|PMID:25981758|PMID:26006199|PMID:26095523|PMID:26149808|PMID:26199320|PMID:26354092|PMID:26467025|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26648081|PMID:26800689|PMID:26911355|PMID:26976279|PMID:26989879|PMID:27026144|PMID:27171515|PMID:27298017|PMID:27334259|PMID:27447098|PMID:27469177|PMID:27577878|PMID:27660821|PMID:27673710|PMID:27707539|PMID:27738188|PMID:27805836|PMID:27895116|PMID:27898234|PMID:28129809|PMID:28325531|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28603918|PMID:28606620|PMID:28617084|PMID:28930490|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29174009|PMID:29261177|PMID:29298718|PMID:29327948|PMID:29431110|PMID:29451946|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29805046|PMID:29944384|PMID:30030066|PMID:30089726|PMID:30279124|PMID:30487145|PMID:30600599|PMID:30602999|PMID:30609409|PMID:30842938|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31310009|PMID:31447099|PMID:31523618|PMID:31589614|PMID:31682332|PMID:31788424|PMID:31980526|PMID:32281737|PMID:32429104|PMID:32539862|PMID:32761997|PMID:32773111|PMID:32777524 9007908 Cftr CF transmembrane conductance regulator gene DOID:630 genetic disease ISO RGD:619566 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:33083013|PMID:33118704|PMID:33144682|PMID:33270637|PMID:33322690|PMID:33365035|PMID:33713579|PMID:34196078|PMID:34426522|PMID:34583889|PMID:34782259|PMID:34949556|PMID:34996830|PMID:35527187|PMID:35652053|PMID:35913788|PMID:36207272|PMID:7506096|PMID:7517267|PMID:7520798|PMID:7525450|PMID:7533604|PMID:7537148|PMID:7540133|PMID:7545856|PMID:7560099|PMID:7573058|PMID:7684641|PMID:7684646|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7693946|PMID:7739684|PMID:7789957|PMID:8092189|PMID:8556303|PMID:8659542|PMID:8740923|PMID:8825494|PMID:8844211|PMID:8886242|PMID:9067754|PMID:9135274|PMID:9150159|PMID:9235853|PMID:9272157|PMID:9272738|PMID:9435322|PMID:9439669|PMID:9493456|PMID:9536098|PMID:9618063|PMID:9630075|PMID:9725922|PMID:9806422 9007908 Cftr CF transmembrane conductance regulator gene DOID:693 dental enamel hypoplasia ISO RGD:2332 D RGD:9068941 20210528 RGD PMID:31942562|REF_RGD_ID:126928119 9007908 Cftr CF transmembrane conductance regulator gene DOID:8469 influenza treatment ISO RGD:10331 D RGD:9068941 20200716 RGD PMID:23749967|REF_RGD_ID:35673331 9007908 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease ISO RGD:619566 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Lung disease, non-specific PMID:10445602|PMID:10653141|PMID:10653145|PMID:10875853|PMID:10922395|PMID:10950058|PMID:12127423|PMID:12454843|PMID:12719375|PMID:12940920|PMID:1379210|PMID:14872121|PMID:15151509|PMID:1545465|PMID:15463907|PMID:15536480|PMID:15705292|PMID:15858154|PMID:15987793|PMID:16049310|PMID:16128988|PMID:16189704|PMID:16251901|PMID:16339147|PMID:16741161|PMID:16915933|PMID:17035430|PMID:17098482|PMID:17098864|PMID:1710599|PMID:17235394|PMID:17329263|PMID:17331079|PMID:17413420|PMID:17489851|PMID:17662673|PMID:18193900|PMID:18306312|PMID:18456578|PMID:18716917|PMID:18951463|PMID:19812525|PMID:19910374|PMID:20021716|PMID:20167849|PMID:20460946|PMID:20538955|PMID:20706124|PMID:20977904|PMID:21131649|PMID:21520337|PMID:22427236|PMID:22678879|PMID:22995991|PMID:23420618|PMID:23751316|PMID:23781395|PMID:23846440|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24451227|PMID:24586523|PMID:24624459|PMID:25033378|PMID:25060775|PMID:25489051|PMID:25492507|PMID:25569187|PMID:25741868|PMID:25797027|PMID:25824995|PMID:25826586|PMID:25910067|PMID:26014425|PMID:26089335|PMID:26100556|PMID:26335950|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26500004|PMID:26574590|PMID:26856995|PMID:26990548|PMID:27264265|PMID:27555793|PMID:28194692|PMID:28392015|PMID:28469871|PMID:28492532|PMID:28603918|PMID:28801929|PMID:29174009|PMID:29504914|PMID:29589582|PMID:29805046|PMID:30763667|PMID:30845638|PMID:30888834|PMID:30979466|PMID:31005549|PMID:31213628|PMID:31350925|PMID:31378749|PMID:31674704|PMID:31916691|PMID:32155011|PMID:32357917|PMID:32447501|PMID:32773111|PMID:32784480|PMID:32819855|PMID:33020115|PMID:33097431|PMID:33144682|PMID:33260873|PMID:33341408|PMID:33374015|PMID:33572515|PMID:33613790|PMID:33946859|PMID:34145097|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:36264955|PMID:7475569|PMID:7526685|PMID:7529962|PMID:7537150|PMID:7543317|PMID:7739684|PMID:8644755|PMID:9272157|PMID:9797105|PMID:9921909 9007908 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease disease_progression ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis; DNA:mutations: : PMID:19952026|REF_RGD_ID:4140390 9007908 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease onset ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human) PMID:8535440|REF_RGD_ID:4140448 9007908 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease severity ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:missense mutation:exon: p.D1152H (human) PMID:19843100|REF_RGD_ID:4140397 9007908 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease severity ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis; DNA:mutation: :p.A455E (human) PMID:7539891|REF_RGD_ID:4140446 9007908 Cftr CF transmembrane conductance regulator gene DOID:850 lung disease severity ISO RGD:619566 D RGD:9068941 20200609 RGD associated with cystic fibrosis;DNA:nonsense mutation: :p.R1162X (human) PMID:1381442|REF_RGD_ID:4140441 9007908 Cftr CF transmembrane conductance regulator gene DOID:899 choledochal cyst ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18988797 9007908 Cftr CF transmembrane conductance regulator gene DOID:9001049 Staphylococcal Pneumonia ISO RGD:10331 D RGD:9068941 20200716 RGD PMID:28289144|REF_RGD_ID:36049750 9007908 Cftr CF transmembrane conductance regulator gene DOID:9002278 Metabolic Bone Diseases ISO RGD:10331 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis;DNA:deletion: :p.F508del (mouse) PMID:20570219|REF_RGD_ID:11566031 9007908 Cftr CF transmembrane conductance regulator gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal cystic hygroma PMID:12815607|PMID:16199547|PMID:1695717|PMID:20059485|PMID:23974870|PMID:25741868|PMID:27240813|PMID:28492532|PMID:29879995|PMID:31036917|PMID:31131953|PMID:32357917|PMID:7683952|PMID:7691345|PMID:9239681|PMID:9725922 9007908 Cftr CF transmembrane conductance regulator gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:18703788|PMID:19858235|REF_RGD_ID:4140395|REF_RGD_ID:4140430 9007908 Cftr CF transmembrane conductance regulator gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:619566 D RGD:9068941 20200716 RGD DNA:SNP:cds:rs113857788(p.Q1352H)(human) PMID:23514810|REF_RGD_ID:36049751 9007908 Cftr CF transmembrane conductance regulator gene DOID:9005643 Experimental Diabetes Mellitus severity ISO RGD:10331 D RGD:9068941 20200609 RGD PMID:16804061|REF_RGD_ID:2314614 9007908 Cftr CF transmembrane conductance regulator gene DOID:9006190 Chronic Pancreatitis ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18206817 9007908 Cftr CF transmembrane conductance regulator gene DOID:9006599 Hypertriglyceridemia ISO RGD:619566 D RGD:9068941 20200609 RGD associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human) PMID:17981921|REF_RGD_ID:11566035 9007908 Cftr CF transmembrane conductance regulator gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:619566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 9007908 Cftr CF transmembrane conductance regulator gene DOID:9007417 Pseudomonas Infections ISO RGD:10331 D RGD:9068941 20200716 RGD PMID:11390493|PMID:15039325|REF_RGD_ID:36049749|REF_RGD_ID:36049752 9007908 Cftr CF transmembrane conductance regulator gene DOID:9007651 Chronic Bronchitis ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:deletion: :F508del(human) PMID:10767489|REF_RGD_ID:4140484 9007908 Cftr CF transmembrane conductance regulator gene DOID:9007651 Chronic Bronchitis susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human) PMID:15463907|REF_RGD_ID:4140475 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008691 Liver Injury treatment ISO RGD:619566 D RGD:9068941 20200609 RGD associated with hyperhomocysteinemia, human gene in a mouse model PMID:29415998|REF_RGD_ID:25671444 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008939 Breast Neoplasms ISO RGD:619566 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:10925568|PMID:12874665|PMID:15905293|PMID:17539902|PMID:25580864|PMID:25741868|PMID:25869325|PMID:26199320|PMID:26467025|PMID:27081564|PMID:27143075|PMID:27171515|PMID:27717243|PMID:28492532|PMID:28502372|PMID:28608624|PMID:29997923|PMID:30379828|PMID:30811104|PMID:31423445|PMID:32777524|PMID:34276759|PMID:35313924 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:7240710 20180130 OMIM 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10026154|PMID:10077727|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10480369|PMID:10556281|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:11001817|PMID:11005149|PMID:11025834|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938439|PMID:11950844|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12080183|PMID:12116247|PMID:12120234|PMID:12127423|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12397022|PMID:12400067|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12578973|PMID:12624947|PMID:12658038|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:1283148|PMID:12843327|PMID:1284477|PMID:1284530|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463888|PMID:15463907|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15520400|PMID:15536480|PMID:15614862|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15716623|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16915933|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17413420|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17718859|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18937943|PMID:18951463|PMID:19014821|PMID:19017867|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19383231|PMID:1944451|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19710401|PMID:19734299|PMID:1977306|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20977904|PMID:20981092|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22439019|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23055971|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:28978796|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35313924|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10026154|PMID:10077727|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10480369|PMID:10556281|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:11001817|PMID:11005149|PMID:11025834|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11585852|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938439|PMID:11950844|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12080183|PMID:12116247|PMID:12120234|PMID:12127423|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12397022|PMID:12400067|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12578973|PMID:12624947|PMID:12658038|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:1283148|PMID:12843327|PMID:1284477|PMID:1284530|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463888|PMID:15463906|PMID:15463907|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15520400|PMID:15536480|PMID:15614862|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15716623|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16915933|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26348465|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:29173301|PMID:29174009|PMID:29178639|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34782259|PMID:34860163|PMID:34888852|PMID:34964109|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9482579|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17244607|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17413420|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18937943|PMID:18951463|PMID:19014821|PMID:19017867|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19383231|PMID:1944451|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19710401|PMID:19734299|PMID:1977306|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20974851|PMID:20977904|PMID:20981092|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23055971|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26348465|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:29133775|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30577776|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32483343|PMID:32484936|PMID:32512765|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33771570|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34860163|PMID:34888852|PMID:34952832|PMID:34964109|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35273129|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:35913788|PMID:36319933|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9482579|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9881185|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:10026154|PMID:10077727|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10480369|PMID:10556281|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:11001817|PMID:11005149|PMID:11025834|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11585852|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938439|PMID:11950844|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12080183|PMID:12116247|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12397022|PMID:12400067|PMID:12414835|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12578973|PMID:12624947|PMID:12658038|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:1282016|PMID:1283148|PMID:12843327|PMID:1284477|PMID:1284530|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15241793|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357568|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:1545465|PMID:15463840|PMID:15463888|PMID:15463906|PMID:15463907|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15520400|PMID:15536480|PMID:15614862|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15716623|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16484308|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16915933|PMID:16931591|PMID:1695717|PMID:16963320 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:16980811|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:17127107|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17244607|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17380060|PMID:17413420|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18167357|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18937943|PMID:18951463|PMID:19014821|PMID:19017867|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19383231|PMID:1944451|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19710401|PMID:19734299|PMID:1977306|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19910674|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20974851|PMID:20977904|PMID:20981092|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21254931|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23055971|PMID:23067305|PMID:23076339 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26348465|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26683699|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29924856|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30577776|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003480|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32220772|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32447501|PMID:32483343|PMID:32484936|PMID:32512765|PMID:32539862|PMID:32662942|PMID:32687833|PMID:32734384|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32906206|PMID:32926152|PMID:32934006|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33138774|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33470563|PMID:33502066|PMID:33512069|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33855558|PMID:33883100|PMID:33922413|PMID:33946859|PMID:33949881|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34860163|PMID:34888852|PMID:34952832|PMID:34964109|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35171259|PMID:35273129|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:35816621|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36142302|PMID:36207272|PMID:36264955|PMID:36293274|PMID:36319933|PMID:36409994|PMID:36458240|PMID:36552859|PMID:36567205|PMID:36631132|PMID:36650664|PMID:36670555|PMID:36828084|PMID:36982273|PMID:37327085|PMID:37431359|PMID:5371902|PMID:6840743|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542347 9007908 Cftr CF transmembrane conductance regulator gene DOID:9008999 Hereditary Pancreatitis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis | ClinVar Annotator: match by term: Pancreatitis, idiopathic, susceptibility to PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9881185|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763 9007908 Cftr CF transmembrane conductance regulator gene DOID:9009073 Diaphragmatic Hernia ISO RGD:619566 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16473863 9007908 Cftr CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10225950|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10453741|PMID:10480369|PMID:10556281|PMID:10562297|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10612827|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10671057|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10875853|PMID:10875876|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:10993719|PMID:11005149|PMID:11025834|PMID:11038458|PMID:11055897|PMID:11101688|PMID:11119745|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11430710|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11585852|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12007216|PMID:12070257|PMID:12080183|PMID:12120234|PMID:12124706|PMID:12133923|PMID:12167682|PMID:12172395|PMID:12186867|PMID:12200467|PMID:12357328|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12414835|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12651858|PMID:12658038|PMID:12679372|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12767731|PMID:12815607|PMID:1282016|PMID:12820707|PMID:12825076|PMID:1283148|PMID:1283149|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284477|PMID:1284529|PMID:1284531|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284542|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12940920|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15088804|PMID:15097853|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15241793|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:15357568|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15371908|PMID:15390350|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15614862|PMID:15638824|PMID:15640323|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16379540|PMID:16417523|PMID:16429425|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16478680 9007908 Cftr CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:17062471|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:17127107|PMID:1712898|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17244607|PMID:17272608|PMID:17283574|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17380060|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594398|PMID:17617039|PMID:17627383|PMID:17662673|PMID:17663888|PMID:17673962|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18167357|PMID:18178635|PMID:18180206|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18301294|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18467194|PMID:18500736|PMID:18507830|PMID:18556774|PMID:18597042|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19339519|PMID:19359498|PMID:19369536|PMID:1937486|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20144563|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20622033|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20974851|PMID:20976528|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21296036|PMID:21317048|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21474639|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21538969|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22156145|PMID:22160394|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181 9007908 Cftr CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:22395041|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22545782|PMID:22569626|PMID:22572128|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22859523|PMID:22892530|PMID:22942289|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23017188|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23483918|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24019231|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24633926|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25266159|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25443471|PMID:25452595|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25553309|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26364555|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26526220|PMID:26540286|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26683699|PMID:26684250|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27209008|PMID:27214204|PMID:27240813|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710 9007908 Cftr CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28003230|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28174639|PMID:28194692|PMID:28196530|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28448979|PMID:28465863|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29040544|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29178639|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29279204|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29805046|PMID:29812963|PMID:29879995|PMID:29924856|PMID:29944384|PMID:29970830|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30297908|PMID:30389601|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30561903|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31740593|PMID:31776420|PMID:31788264|PMID:31788424|PMID:31808782|PMID:31845523|PMID:31900120|PMID:31916691|PMID:31980526|PMID:32003480|PMID:32017858|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32265312|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32414100|PMID:32429104|PMID:32483343|PMID:32512765|PMID:32539862|PMID:32662942|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32906206|PMID:32934006|PMID:32935393|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33365035|PMID:33374015|PMID:33393655|PMID:33424627|PMID:33468668|PMID:33495079|PMID:33567498|PMID:33572515|PMID:33574797|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33855558|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086412|PMID:34099697|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34315429|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34583889|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35008443|PMID:35109852|PMID:35273129|PMID:35313924|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35652053|PMID:35698092|PMID:35816621|PMID:35857025|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36207272|PMID:36259570|PMID:36272381|PMID:36319933|PMID:36409994|PMID:36458240 9007908 Cftr CF transmembrane conductance regulator gene DOID:9563 bronchiectasis ISO RGD:619566 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:36670555|PMID:36717774|PMID:36751320|PMID:3716676|PMID:5371902|PMID:63921865|PMID:6840743|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509683|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513293|PMID:7515303|PMID:7516234|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526928|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542347|PMID:7542778|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8406518|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9135274|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9920885|PMID:9921909|PMID:9950364|PMID:9950763 9007908 Cftr CF transmembrane conductance regulator gene DOID:9563 bronchiectasis susceptibility ISO RGD:619566 D RGD:9068941 20200609 RGD DNA:mutations, polymorphisms: PMID:7543317|REF_RGD_ID:4140447 9007953 Mlc1 modulator of VRAC current 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1318392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:16652334|PMID:21160490|PMID:23079554|PMID:23851226|PMID:25741868|PMID:27322623|PMID:28492532|PMID:33084218 9007953 Mlc1 modulator of VRAC current 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 9007953 Mlc1 modulator of VRAC current 1 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1318392 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 9007953 Mlc1 modulator of VRAC current 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1318392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9007953 Mlc1 modulator of VRAC current 1 gene DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts ISO RGD:1318392 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts PMID:11254442|PMID:11935341|PMID:12189496|PMID:12497630|PMID:12850517|PMID:12939431|PMID:14572144|PMID:14615938|PMID:15037685|PMID:15367490|PMID:15832614|PMID:15992519|PMID:16199547|PMID:16470554|PMID:16504440|PMID:16652334|PMID:17077634|PMID:18757878|PMID:19168821|PMID:21145992|PMID:21160490|PMID:21555057|PMID:21624973|PMID:22006981|PMID:22382567|PMID:22405205|PMID:22416245|PMID:22737209|PMID:22975760|PMID:23793458|PMID:24315536|PMID:24824219|PMID:25333069|PMID:25497041|PMID:25634434|PMID:25741868|PMID:25796299|PMID:26392452|PMID:27081509|PMID:27264811|PMID:27322623|PMID:28492532|PMID:31302377|PMID:32056211|PMID:33084218|PMID:34504271 9007953 Mlc1 modulator of VRAC current 1 gene DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ISO RGD:1318392 D RGD:7240710 20180711 OMIM 9007953 Mlc1 modulator of VRAC current 1 gene DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 ISO RGD:1318392 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 PMID:11254442|PMID:11935341|PMID:12189496|PMID:12497630|PMID:12850517|PMID:12939431|PMID:14572144|PMID:14615938|PMID:15037685|PMID:15367490|PMID:15832614|PMID:15992519|PMID:16199547|PMID:16470554|PMID:16504440|PMID:16652334|PMID:17077634|PMID:17576681|PMID:18757878|PMID:18821826|PMID:19168821|PMID:20301707|PMID:20560255|PMID:21145992|PMID:21160490|PMID:21555057|PMID:21624973|PMID:22006981|PMID:22328087|PMID:22382567|PMID:22405205|PMID:22416245|PMID:22737209|PMID:22975760|PMID:23079554|PMID:23793458|PMID:23851226|PMID:24315536|PMID:24824219|PMID:25333069|PMID:25497041|PMID:25634434|PMID:25741868|PMID:25767710|PMID:25796299|PMID:25919557|PMID:26349194|PMID:26392452|PMID:27081509|PMID:27264811|PMID:27322623|PMID:28492532|PMID:28588848|PMID:28840990|PMID:31069529|PMID:31302377|PMID:32056211|PMID:32209057|PMID:33084218|PMID:34504271|PMID:34918859|PMID:9536098 9007953 Mlc1 modulator of VRAC current 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9007953 Mlc1 modulator of VRAC current 1 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 9007953 Mlc1 modulator of VRAC current 1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1318392 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 9007953 Mlc1 modulator of VRAC current 1 gene DOID:1059 intellectual disability ISO RGD:1318392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9007953 Mlc1 modulator of VRAC current 1 gene DOID:630 genetic disease ISO RGD:1318392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15992519|PMID:25741868|PMID:28492532 9007953 Mlc1 modulator of VRAC current 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1318392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9007953 Mlc1 modulator of VRAC current 1 gene DOID:9005369 Hepatomegaly ISO RGD:1318392 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 9007953 Mlc1 modulator of VRAC current 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1318392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:11254442|PMID:12939431|PMID:16199547|PMID:16470554|PMID:24824219|PMID:25741868|PMID:27264811|PMID:28492532 9007994 Srpk2 SRSF protein kinase 2 gene DOID:3312 bipolar disorder ISO RGD:1312944 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 9007994 Srpk2 SRSF protein kinase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9007994 Srpk2 SRSF protein kinase 2 gene DOID:630 genetic disease ISO RGD:1312944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008032 Igbp1 immunoglobulin binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9008032 Igbp1 immunoglobulin binding protein 1 gene DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ISO RGD:732872 D RGD:7240710 20180130 OMIM 9008032 Igbp1 immunoglobulin binding protein 1 gene DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome ISO RGD:732872 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition PMID:25741868 9008032 Igbp1 immunoglobulin binding protein 1 gene DOID:12849 autistic disorder ISO RGD:732872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9008032 Igbp1 immunoglobulin binding protein 1 gene DOID:630 genetic disease ISO RGD:732872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9008032 Igbp1 immunoglobulin binding protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:732872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 9008032 Igbp1 immunoglobulin binding protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:732872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 9008032 Igbp1 immunoglobulin binding protein 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:732872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 9008032 Igbp1 immunoglobulin binding protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21339737 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:26467025|PMID:28492532 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050823 third-degree atrioventricular block ISO RGD:1348942 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1348942 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia PMID:16199547|PMID:17159980|PMID:19542096|PMID:24033266|PMID:24319099|PMID:25741868|PMID:25843669|PMID:26467025|PMID:27086870|PMID:27782104|PMID:28492532|PMID:31103315 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0050952 spastic ataxia ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:19542096|PMID:24319099|PMID:25741868|PMID:26467025|PMID:27086870|PMID:28492532 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:1348942 D RGD:7240710 20180711 OMIM 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:1348942 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:16199547|PMID:17159980|PMID:17503513|PMID:17576681|PMID:17761684|PMID:18414213|PMID:19542096|PMID:21572417|PMID:21701589|PMID:22162184|PMID:22287014|PMID:23352163|PMID:23959263|PMID:24123366|PMID:24123876|PMID:24319099|PMID:24388756|PMID:24892279|PMID:25133958|PMID:25214167|PMID:25401298|PMID:25741868|PMID:25976027|PMID:26302956|PMID:26350515|PMID:26467025|PMID:26539891|PMID:26770814|PMID:26870756|PMID:27060904|PMID:27066551|PMID:27086870|PMID:27178001|PMID:27197992|PMID:27305979|PMID:27378695|PMID:28017257|PMID:28074886|PMID:28178086|PMID:28492532|PMID:28750076|PMID:29482223|PMID:29625556|PMID:29892087|PMID:29961767|PMID:30029642|PMID:30119932|PMID:30275942|PMID:30487145|PMID:30564623|PMID:30610203|PMID:31103315|PMID:31230720|PMID:3169216|PMID:31692161|PMID:32038460|PMID:32816195|PMID:32934002|PMID:33397523|PMID:34234304|PMID:35304488|PMID:9536098 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1348942 D RGD:9068941 20200609 RGD DNA:mutation:splice junction: PMID:19542096|REF_RGD_ID:13209012 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:1348942 D RGD:7240710 20190814 OMIM 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type PMID:19542096|PMID:24319099|PMID:24838835|PMID:25741868|PMID:26467025|PMID:27086870|PMID:27178001|PMID:27782104|PMID:28492532 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1348942 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348942 D RGD:7240710 20180130 OMIM 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:1348942 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:16199547|PMID:17159980|PMID:17503513|PMID:17576681|PMID:17761684|PMID:18414213|PMID:19542096|PMID:19944109|PMID:21572417|PMID:21701589|PMID:22162184|PMID:22287014|PMID:23325900|PMID:23352163|PMID:23959263|PMID:24033266|PMID:24123366|PMID:24123876|PMID:24319099|PMID:24366360|PMID:24388756|PMID:24838835|PMID:24892279|PMID:25091525|PMID:25133958|PMID:25214167|PMID:25326637|PMID:25401298|PMID:25640679|PMID:25741868|PMID:25843669|PMID:25976027|PMID:26302956|PMID:26350515|PMID:26467025|PMID:26539891|PMID:26770814|PMID:26870756|PMID:27060904|PMID:27066551|PMID:27086870|PMID:27178001|PMID:27197992|PMID:27305979|PMID:27378695|PMID:27671794|PMID:27782104|PMID:28017257|PMID:28074886|PMID:28178086|PMID:28324520|PMID:28492532|PMID:28687974|PMID:28750076|PMID:28798025|PMID:29077258|PMID:29389947|PMID:29482223|PMID:29625556|PMID:29892087|PMID:29915382|PMID:29961767|PMID:30029642|PMID:30119932|PMID:30275942|PMID:30487145|PMID:30564623|PMID:30573412|PMID:30610203|PMID:30619065|PMID:30993396|PMID:31103315|PMID:31127727|PMID:31230720|PMID:3169216|PMID:31692161|PMID:32038460|PMID:32348865|PMID:32488064|PMID:32816195|PMID:32870032|PMID:32889669|PMID:32934002|PMID:33397523|PMID:33651373|PMID:34275688|PMID:34368859|PMID:34602496|PMID:35304488|PMID:9536098 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:1059 intellectual disability ISO RGD:1348942 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities PMID:17761684|PMID:23352163|PMID:24123876|PMID:25741868|PMID:26467025|PMID:27086870|PMID:27178001|PMID:28492532|PMID:30564623|PMID:31692161|PMID:32934002 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:303 substance-related disorder ISO RGD:1348942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:3070 high grade glioma ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:3312 bipolar disorder susceptibility ISO RGD:1348942 D RGD:9068941 20200609 RGD DNA:SNPs:promoter,intron: PMID:28178086|REF_RGD_ID:13209005 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:630 genetic disease ISO RGD:1348942 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17159980|PMID:19542096|PMID:24033266|PMID:24319099|PMID:25741868|PMID:25843669|PMID:26467025|PMID:27086870|PMID:27178001|PMID:27378695|PMID:27782104|PMID:28492532|PMID:29892087|PMID:29961767|PMID:31103315 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:25741868 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9000495 Tremor ISO RGD:1348942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:28492532 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1348942 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 9008080 Syne1 spectrin repeat containing nuclear envelope protein 1 gene DOID:9884 muscular dystrophy ISO RGD:1348942 D RGD:9068941 20200609 RGD DNA:mutation:cds: c.323C>T, p.N108S(human) PMID:25091525|REF_RGD_ID:13209008 9008229 Lrrc4 leucine rich repeat containing 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9008229 Lrrc4 leucine rich repeat containing 4 gene DOID:630 genetic disease ISO RGD:1349330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008251 Tmem87b transmembrane protein 87B gene DOID:630 genetic disease ISO RGD:1605922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008281 CCND1 cyclin D1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:68556 D RGD:9068941 20240321 RGD DNA:snp:exon:c.870G>A (rs603965) (human) PMID:23502783|REF_RGD_ID:11353784 9008281 Ccnd1 cyclin D1 gene DOID:0001816 angiosarcoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17569031 9008281 Ccnd1 cyclin D1 gene DOID:0050746 mantle cell lymphoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22383795|PMID:26174628 9008281 Ccnd1 cyclin D1 gene DOID:0050746 mantle cell lymphoma ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, peripheral blood (human) PMID:24060591|REF_RGD_ID:11352827 9008281 Ccnd1 cyclin D1 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:68556 D RGD:9068941 20220825 RGD protein:increased expression:tongue (human) PMID:26581505|REF_RGD_ID:11535375 9008281 Ccnd1 cyclin D1 gene DOID:0050902 medulloblastoma ISO RGD:68557 D RGD:9068941 20200609 RGD PMID:16943274|REF_RGD_ID:13681932 9008281 Ccnd1 cyclin D1 gene DOID:0050912 colon adenoma severity ISO RGD:68556 D RGD:9068941 20220311 RGD PMID:11375949|REF_RGD_ID:151665121 9008281 Ccnd1 cyclin D1 gene DOID:0060060 non-Hodgkin lymphoma susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:snp:exon:c.870G>A (human) PMID:25169547|REF_RGD_ID:11353786 9008281 Ccnd1 cyclin D1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 9008281 Ccnd1 cyclin D1 gene DOID:0060074 ductal carcinoma in situ ISO RGD:68556 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:14612904|REF_RGD_ID:2289132 9008281 Ccnd1 cyclin D1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9008281 Ccnd1 cyclin D1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA:increased expression:B cell (mouse) PMID:23169640|REF_RGD_ID:11353783 9008281 Ccnd1 cyclin D1 gene DOID:10283 prostate cancer ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:17908994|REF_RGD_ID:2289128 9008281 Ccnd1 cyclin D1 gene DOID:1059 intellectual disability ISO RGD:68556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9008281 Ccnd1 cyclin D1 gene DOID:11054 urinary bladder cancer ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:bladder PMID:12372886|REF_RGD_ID:13602096 9008281 Ccnd1 cyclin D1 gene DOID:11054 urinary bladder cancer ISO RGD:68556 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 9008281 Ccnd1 cyclin D1 gene DOID:11624 penile benign neoplasm ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:17695500|REF_RGD_ID:2289129 9008281 Ccnd1 cyclin D1 gene DOID:11832 visual epilepsy ISO RGD:68384 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, cerebral cortex PMID:16696308|REF_RGD_ID:2289147 9008281 Ccnd1 cyclin D1 gene DOID:1240 leukemia ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10602166 9008281 Ccnd1 cyclin D1 gene DOID:13543 hyperparathyroidism ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21541686 9008281 Ccnd1 cyclin D1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:68556 D RGD:7240710 20240320 OMIM 9008281 Ccnd1 cyclin D1 gene DOID:14175 von Hippel-Lindau disease ISO RGD:68556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF PMID:10667569|PMID:11459873|PMID:12097293|PMID:23502783|PMID:24870244 9008281 Ccnd1 cyclin D1 gene DOID:1749 squamous cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 9008281 Ccnd1 cyclin D1 gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms;DNA:polymorphism: :870A>G PMID:18548202|REF_RGD_ID:2296032 9008281 Ccnd1 cyclin D1 gene DOID:1793 pancreatic cancer ISO RGD:68556 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:22722256|REF_RGD_ID:13451541 9008281 Ccnd1 cyclin D1 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (mouse) PMID:11159909|REF_RGD_ID:13452385 9008281 Ccnd1 cyclin D1 gene DOID:1793 pancreatic cancer treatment ISO RGD:68556 D RGD:9068941 20200609 RGD human cells in a mouse model PMID:17541034|REF_RGD_ID:13462059 9008281 Ccnd1 cyclin D1 gene DOID:1824 status epilepticus treatment ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:24051278|REF_RGD_ID:11352818 9008281 Ccnd1 cyclin D1 gene DOID:1875 impotence ISO RGD:68384 D RGD:9068941 20200609 RGD mRNA:decreased expression:penis erectile tissue PMID:17137605|REF_RGD_ID:1625408 9008281 Ccnd1 cyclin D1 gene DOID:1936 atherosclerosis ISO RGD:68384 D RGD:9068941 20230615 RGD associated with type 2 diabetes mellitus; mRNA, protein:increased expression:thoracic aorta (rat) PMID:33889291|REF_RGD_ID:329849122 9008281 Ccnd1 cyclin D1 gene DOID:2615 papilloma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 9008281 Ccnd1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68384 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:16896691|REF_RGD_ID:2289144 9008281 Ccnd1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359 9008281 Ccnd1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:16896691|REF_RGD_ID:2289144 9008281 Ccnd1 cyclin D1 gene DOID:2671 transitional cell carcinoma ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder PMID:16896691|REF_RGD_ID:2289144 9008281 Ccnd1 cyclin D1 gene DOID:299 adenocarcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 9008281 Ccnd1 cyclin D1 gene DOID:305 carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:16316942|PMID:17173897 9008281 Ccnd1 cyclin D1 gene DOID:3069 malignant astrocytoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:10419598|REF_RGD_ID:13681931 9008281 Ccnd1 cyclin D1 gene DOID:3070 high grade glioma ISO RGD:68557 D RGD:9068941 20200609 RGD PMID:21844184|REF_RGD_ID:13702091 9008281 Ccnd1 cyclin D1 gene DOID:3070 high grade glioma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:21844184|REF_RGD_ID:13702091 9008281 Ccnd1 cyclin D1 gene DOID:3070 high grade glioma susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:22304571|REF_RGD_ID:13681930 9008281 Ccnd1 cyclin D1 gene DOID:3457 invasive lobular carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:12448002|REF_RGD_ID:11353788 9008281 Ccnd1 cyclin D1 gene DOID:3457 invasive lobular carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12203362|REF_RGD_ID:2289133 9008281 Ccnd1 cyclin D1 gene DOID:3498 pancreatic ductal adenocarcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:22939953|REF_RGD_ID:13462062 9008281 Ccnd1 cyclin D1 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:snp:exon:c.870G>A (human) PMID:25470788|REF_RGD_ID:13462050 9008281 Ccnd1 cyclin D1 gene DOID:3571 liver cancer disease_progression ISO RGD:68384 D RGD:9068941 20220224 RGD protein:increased expression:liver (rat) PMID:11797828|REF_RGD_ID:151356973 9008281 Ccnd1 cyclin D1 gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:17420962|REF_RGD_ID:13462063 9008281 Ccnd1 cyclin D1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 9008281 Ccnd1 cyclin D1 gene DOID:3907 lung squamous cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:27498289|REF_RGD_ID:13434929 9008281 Ccnd1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:26055143|REF_RGD_ID:11052612 9008281 Ccnd1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:amplification PMID:9462706|REF_RGD_ID:13434928 9008281 Ccnd1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:splice variant PMID:18715616|REF_RGD_ID:13434926 9008281 Ccnd1 cyclin D1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:SNP: :870A>G (human) PMID:16406195|REF_RGD_ID:13434924 9008281 Ccnd1 cyclin D1 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:26681199|REF_RGD_ID:11536846 9008281 Ccnd1 cyclin D1 gene DOID:3910 lung adenocarcinoma treatment ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:19355812|REF_RGD_ID:13434927 9008281 Ccnd1 cyclin D1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 9008281 Ccnd1 cyclin D1 gene DOID:4001 ovarian carcinoma treatment ISO RGD:68556 D RGD:9068941 20200710 RGD PMID:18025280|REF_RGD_ID:2296036 9008281 Ccnd1 cyclin D1 gene DOID:4074 pancreatic adenocarcinoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:25053516|REF_RGD_ID:13462053 9008281 Ccnd1 cyclin D1 gene DOID:4450 renal cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:17924468|REF_RGD_ID:2289127 9008281 Ccnd1 cyclin D1 gene DOID:4450 renal cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15538282|REF_RGD_ID:2289130 9008281 Ccnd1 cyclin D1 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:14674039|REF_RGD_ID:13434930 9008281 Ccnd1 cyclin D1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:snp:exon:c.870G>A (human) PMID:29739297|REF_RGD_ID:13673912 9008281 Ccnd1 cyclin D1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26909611|PMID:29464035 9008281 Ccnd1 cyclin D1 gene DOID:5520 head and neck squamous cell carcinoma disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD PMID:9796972|REF_RGD_ID:13434911 9008281 Ccnd1 cyclin D1 gene DOID:630 genetic disease ISO RGD:68556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008281 Ccnd1 cyclin D1 gene DOID:6827 pancreatic solid pseudopapillary carcinoma severity ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:19248223|REF_RGD_ID:13462054 9008281 Ccnd1 cyclin D1 gene DOID:684 hepatocellular carcinoma ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12029619|PMID:19919837|PMID:22649188|PMID:25822088|PMID:26189965 9008281 Ccnd1 cyclin D1 gene DOID:684 hepatocellular carcinoma ISO RGD:68557 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 9008281 Ccnd1 cyclin D1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic;DNA:SNP:splice-site mutation:870G>A (human) PMID:25851350|REF_RGD_ID:14401586 9008281 Ccnd1 cyclin D1 gene DOID:8634 prostate carcinoma in situ ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prostate gland PMID:14968434|REF_RGD_ID:2289283 9008281 Ccnd1 cyclin D1 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18301453|REF_RGD_ID:2293574 9008281 Ccnd1 cyclin D1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12235107 9008281 Ccnd1 cyclin D1 gene DOID:9000217 Stomach Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21628965 9008281 Ccnd1 cyclin D1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:16316942|PMID:17173897 9008281 Ccnd1 cyclin D1 gene DOID:9000918 Disease Progression ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29103775 9008281 Ccnd1 cyclin D1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:68556 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;mRNA:splice variant PMID:18715616|REF_RGD_ID:13434926 9008281 Ccnd1 cyclin D1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:68556 D RGD:9068941 20220616 RGD associated with stomach cancer; human cells in mouse model PMID:27431311|REF_RGD_ID:152995400 9008281 Ccnd1 cyclin D1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:17055752|REF_RGD_ID:2289139 9008281 Ccnd1 cyclin D1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 9008281 Ccnd1 cyclin D1 gene DOID:9001642 Intestinal Polyps ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12584176 9008281 Ccnd1 cyclin D1 gene DOID:9002170 Experimental Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960 9008281 Ccnd1 cyclin D1 gene DOID:9002221 Hyperplasia ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12151359|PMID:21541686 9008281 Ccnd1 cyclin D1 gene DOID:9002265 Kidney Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21693435 9008281 Ccnd1 cyclin D1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17606477 9008281 Ccnd1 cyclin D1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:68557 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prostate gland PMID:14968434|REF_RGD_ID:2289283 9008281 Ccnd1 cyclin D1 gene DOID:9002928 Colonic Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283038|PMID:19147571|PMID:21081470|PMID:21188121 9008281 Ccnd1 cyclin D1 gene DOID:9002981 Genomic Instability ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8548770 9008281 Ccnd1 cyclin D1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9008281 Ccnd1 cyclin D1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26432044 9008281 Ccnd1 cyclin D1 gene DOID:9003373 Uterine Cervical Neoplasms onset ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:polymorphism: :870A>G PMID:18355450|REF_RGD_ID:2296033 9008281 Ccnd1 cyclin D1 gene DOID:9003694 Cecal Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14688030 9008281 Ccnd1 cyclin D1 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:68556 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9008281 Ccnd1 cyclin D1 gene DOID:9004009 Reperfusion Injury ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:16718823|REF_RGD_ID:2289145 9008281 Ccnd1 cyclin D1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68556 D RGD:9068941 20200626 RGD mRNA:increased expression:CD19+Bcell: PMID:20189883|REF_RGD_ID:32716380 9008281 Ccnd1 cyclin D1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:12882690|REF_RGD_ID:13462061 9008281 Ccnd1 cyclin D1 gene DOID:9004078 Pancreatic Intraepithelial Neoplasia disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:11751405|REF_RGD_ID:13464129 9008281 Ccnd1 cyclin D1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 9008281 Ccnd1 cyclin D1 gene DOID:9004643 Urologic Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21040761 9008281 Ccnd1 cyclin D1 gene DOID:9005172 Lung Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11307925|PMID:16289808 9008281 Ccnd1 cyclin D1 gene DOID:9005207 Nasopharyngeal Neoplasms onset ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:polymorphism: :870A>G PMID:18355450|REF_RGD_ID:2296033 9008281 Ccnd1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:12602925|REF_RGD_ID:2289337 9008281 Ccnd1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68384 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland PMID:12649181|REF_RGD_ID:2289336 9008281 Ccnd1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68384 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 9008281 Ccnd1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68384 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 9008281 Ccnd1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:14522882|PMID:16316942 9008281 Ccnd1 cyclin D1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:68557 D RGD:9068941 20200609 RGD PMID:17440082|REF_RGD_ID:2296037 9008281 Ccnd1 cyclin D1 gene DOID:9007102 Myocardial Ischemia ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9008281 Ccnd1 cyclin D1 gene DOID:9007170 Bowen's Disease ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29103775 9008281 Ccnd1 cyclin D1 gene DOID:9007188 Liver Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 9008281 Ccnd1 cyclin D1 gene DOID:9007502 Brain Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20932960|PMID:27935819 9008281 Ccnd1 cyclin D1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21726611|PMID:24362009 9008281 Ccnd1 cyclin D1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29232554 9008281 Ccnd1 cyclin D1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:18306533|REF_RGD_ID:2296034 9008281 Ccnd1 cyclin D1 gene DOID:9007730 Burns ISO RGD:68384 D RGD:9068941 20200609 RGD PMID:17996899|REF_RGD_ID:2289134 9008281 Ccnd1 cyclin D1 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:68556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 9008281 Ccnd1 cyclin D1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68556 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 9008281 Ccnd1 cyclin D1 gene DOID:9008939 Breast Neoplasms ISO RGD:68556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12839951|PMID:17255770|PMID:19636701|PMID:20948315|PMID:23839043|PMID:25267515 9008281 Ccnd1 cyclin D1 gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:68556 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15647071|REF_RGD_ID:2289131 9008281 Ccnd1 cyclin D1 gene DOID:9008939 Breast Neoplasms susceptibility ISO RGD:68556 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:18194538|REF_RGD_ID:2289126 9008281 Ccnd1 cyclin D1 gene DOID:9119 acute myeloid leukemia ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:22391157|REF_RGD_ID:11352824 9008281 Ccnd1 cyclin D1 gene DOID:9119 acute myeloid leukemia treatment ISO RGD:68556 D RGD:9068941 20200609 RGD human tumor in a mouse model PMID:21928377|REF_RGD_ID:11353789 9008281 Ccnd1 cyclin D1 gene DOID:9256 colorectal cancer ISO RGD:68556 D RGD:7240710 20240320 OMIM 9008281 Ccnd1 cyclin D1 gene DOID:9256 colorectal cancer ISO RGD:68556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to PMID:10667569|PMID:11459873|PMID:12097293|PMID:23502783|PMID:24870244 9008281 Ccnd1 cyclin D1 gene DOID:9538 multiple myeloma ISO RGD:68556 D RGD:7240710 20240320 OMIM 9008281 Ccnd1 cyclin D1 gene DOID:9538 multiple myeloma ISO RGD:68556 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO PMID:10667569|PMID:11459873|PMID:12097293|PMID:23502783|PMID:24870244 9008281 Ccnd1 cyclin D1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:68556 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:22391157|REF_RGD_ID:11352824 9008290 Dpy19l1 dpy-19 like C-mannosyltransferase 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603693 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9008290 Dpy19l1 dpy-19 like C-mannosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1603693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008316 Dmrtb1 DMRT like family B with proline rich C-terminal 1 gene DOID:630 genetic disease ISO RGD:1349847 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008339 Gnai2 G protein subunit alpha i2 gene DOID:0050117 disease by infectious agent ISO RGD:730993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Recurrent infections 9008339 Gnai2 G protein subunit alpha i2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 9008339 Gnai2 G protein subunit alpha i2 gene DOID:0050820 atrioventricular block ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17277016 9008339 Gnai2 G protein subunit alpha i2 gene DOID:0110887 inflammatory bowel disease 12 ISO RGD:730994 D RGD:9068941 20220825 MouseDO OMIM:612241 9008339 Gnai2 G protein subunit alpha i2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 9008339 Gnai2 G protein subunit alpha i2 gene DOID:10763 hypertension ISO RGD:620243 D RGD:9068941 20200609 RGD PMID:27912212|REF_RGD_ID:13507308 9008339 Gnai2 G protein subunit alpha i2 gene DOID:10763 hypertension treatment ISO RGD:620243 D RGD:9068941 20200609 RGD PMID:15106810|REF_RGD_ID:13508592 9008339 Gnai2 G protein subunit alpha i2 gene DOID:2843 long QT syndrome ISO RGD:730993 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9008339 Gnai2 G protein subunit alpha i2 gene DOID:2999 granulosa cell tumor ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulosa cell tumor, somatic PMID:2116665 9008339 Gnai2 G protein subunit alpha i2 gene DOID:305 carcinoma ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9008339 Gnai2 G protein subunit alpha i2 gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary dependent hypercortisolism PMID:7737262 9008339 Gnai2 G protein subunit alpha i2 gene DOID:630 genetic disease ISO RGD:730993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9000064 Cardiac Arrhythmias treatment ISO RGD:620243 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:11941407|REF_RGD_ID:13508594 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9002210 Granulosa Cell Tumor of the Ovary ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulosa cell tumor of the ovary PMID:2116665 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9002365 Ovarian Granulosa Cell Tumor ISO RGD:730993 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ovarian granulosa cell tumor PMID:2116665 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9004009 Reperfusion Injury ISO RGD:620243 D RGD:9068941 20200609 RGD PMID:11367746|REF_RGD_ID:13513922 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia, somatic PMID:9637720 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9005582 Adrenal Cortex Neoplasms ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adrenal cortical tumor, somatic PMID:2116665 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9007001 Bradycardia ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17277016 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9007215 Familial Ventricular Tachycardia ISO RGD:730993 D RGD:7240710 20180130 OMIM 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9007661 Dwarfism ISO RGD:730993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short stature 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9007671 Familial Isolated Pituitary Adenoma ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial isolated pituitary adenoma PMID:25741868 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9008813 Thecoma ISO RGD:730993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thecoma, somatic PMID:2116665 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9008939 Breast Neoplasms ISO RGD:730993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9406 hypopituitarism ISO RGD:730993 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypopituitarism 9008339 Gnai2 G protein subunit alpha i2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:730993 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9008357 Nfasc neurofascin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:733496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9008357 Nfasc neurofascin gene DOID:12849 autistic disorder ISO RGD:733496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9008357 Nfasc neurofascin gene DOID:1540 parathyroid carcinoma ISO RGD:733496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9008357 Nfasc neurofascin gene DOID:630 genetic disease ISO RGD:733496 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9008357 Nfasc neurofascin gene DOID:9003193 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction ISO RGD:733496 D RGD:7240710 20190424 OMIM 9008357 Nfasc neurofascin gene DOID:9003193 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction ISO RGD:733496 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with central and peripheral motor dysfunction PMID:25741868|PMID:28940097|PMID:30124836|PMID:30850329|PMID:31501903 9008357 Nfasc neurofascin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:733496 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9008357 Nfasc neurofascin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733496 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9008420 Slc35f4 solute carrier family 35 member F4 gene DOID:630 genetic disease ISO RGD:1351439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008432 Npas2 neuronal PAS domain protein 2 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1320157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25956372 9008432 Npas2 neuronal PAS domain protein 2 gene DOID:12849 autistic disorder ISO RGD:1320157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17264841 9008432 Npas2 neuronal PAS domain protein 2 gene DOID:630 genetic disease ISO RGD:1320157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008432 Npas2 neuronal PAS domain protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9008432 Npas2 neuronal PAS domain protein 2 gene DOID:9004980 Chronobiology Disorders ISO RGD:1320157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31284022 9008476 Slc39a2 solute carrier family 39 member 2 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1314826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 9008476 Slc39a2 solute carrier family 39 member 2 gene DOID:630 genetic disease ISO RGD:1314826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008476 Slc39a2 solute carrier family 39 member 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314826 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9008490 Aldoc aldolase, fructose-bisphosphate C gene DOID:438 autoimmune disease of the nervous system ISO RGD:69125 D RGD:9068941 20200609 RGD associated with Streptococcal Infections PMID:16356555|REF_RGD_ID:2301134 9008490 Aldoc aldolase, fructose-bisphosphate C gene DOID:5154 borna disease ISO RGD:2091 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cerebellum, Purkinje cell PMID:17182680|REF_RGD_ID:2301132 9008490 Aldoc aldolase, fructose-bisphosphate C gene DOID:630 genetic disease ISO RGD:69125 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008490 Aldoc aldolase, fructose-bisphosphate C gene DOID:684 hepatocellular carcinoma ISO RGD:2091 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:3830170|REF_RGD_ID:2301136 9008490 Aldoc aldolase, fructose-bisphosphate C gene DOID:9007096 Stroke ISO RGD:69125 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:17053973|REF_RGD_ID:2301133 9008503 Atp6v1c2 ATPase H+ transporting V1 subunit C2 gene DOID:11372 megacolon ISO RGD:1354342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9008503 Atp6v1c2 ATPase H+ transporting V1 subunit C2 gene DOID:14219 renal tubular acidosis ISO RGD:1354342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 9008503 Atp6v1c2 ATPase H+ transporting V1 subunit C2 gene DOID:630 genetic disease ISO RGD:1354342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008503 Atp6v1c2 ATPase H+ transporting V1 subunit C2 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1354342 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 9008537 Arhgef19 Rho guanine nucleotide exchange factor 19 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312400 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9008537 Arhgef19 Rho guanine nucleotide exchange factor 19 gene DOID:0110229 cataract 6 multiple types ISO RGD:1312400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 6 multiple types PMID:19649315|PMID:22167091|PMID:25148791|PMID:28492532 9008537 Arhgef19 Rho guanine nucleotide exchange factor 19 gene DOID:630 genetic disease ISO RGD:1312400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008565 Plekha4 pleckstrin homology domain containing A4 gene DOID:10283 prostate cancer ISO RGD:1346745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9008565 Plekha4 pleckstrin homology domain containing A4 gene DOID:630 genetic disease ISO RGD:1346745 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008593 Irx6 iroquois homeobox 6 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1344383 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17558409|PMID:28492532 9008593 Irx6 iroquois homeobox 6 gene DOID:630 genetic disease ISO RGD:1344383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008608 Ing5 inhibitor of growth family member 5 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1317373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9008608 Ing5 inhibitor of growth family member 5 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1317373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9008608 Ing5 inhibitor of growth family member 5 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317373 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 9008608 Ing5 inhibitor of growth family member 5 gene DOID:1059 intellectual disability ISO RGD:1317373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9008608 Ing5 inhibitor of growth family member 5 gene DOID:630 genetic disease ISO RGD:1317373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008608 Ing5 inhibitor of growth family member 5 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1317373 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9008632 Mal2 mal, T cell differentiation protein 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1348409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 9008632 Mal2 mal, T cell differentiation protein 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1348409 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 9008632 Mal2 mal, T cell differentiation protein 2 gene DOID:630 genetic disease ISO RGD:1348409 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008652 Ap1m2 adaptor related protein complex 1 subunit mu 2 gene DOID:630 genetic disease ISO RGD:1354372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008672 Desi2 desumoylating isopeptidase 2 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603047 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 9008672 Desi2 desumoylating isopeptidase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9008672 Desi2 desumoylating isopeptidase 2 gene DOID:630 genetic disease ISO RGD:1603047 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008672 Desi2 desumoylating isopeptidase 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1603047 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21667029 9008672 Desi2 desumoylating isopeptidase 2 gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:1603047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 9008672 Desi2 desumoylating isopeptidase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603047 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9008684 Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1343620 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 9008684 Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:0110266 cataract 9 multiple types ISO RGD:1343620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 9008684 Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:630 genetic disease ISO RGD:1343620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008684 Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1343620 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 9008684 Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:9263 homocystinuria ISO RGD:1343620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 9008684 Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1343620 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9008704 Tmem52b transmembrane protein 52B gene DOID:630 genetic disease ISO RGD:1606983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008714 Kics2 KICSTOR subunit 2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1603179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9008720 Nol12 nucleolar protein 12 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1601850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9008720 Nol12 nucleolar protein 12 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1601850 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9008720 Nol12 nucleolar protein 12 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1601850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9008720 Nol12 nucleolar protein 12 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1601850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9008720 Nol12 nucleolar protein 12 gene DOID:630 genetic disease ISO RGD:1601850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008735 Pgm2 phosphoglucomutase 2 gene DOID:0080600 COVID-19 ISO RGD:1314459 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9008735 Pgm2 phosphoglucomutase 2 gene DOID:630 genetic disease ISO RGD:1314459 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008764 Rab11fip4 RAB11 family interacting protein 4 gene DOID:10283 prostate cancer ISO RGD:1348691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9008764 Rab11fip4 RAB11 family interacting protein 4 gene DOID:1969 cerebral palsy ISO RGD:1348691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 9008764 Rab11fip4 RAB11 family interacting protein 4 gene DOID:630 genetic disease ISO RGD:1348691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008764 Rab11fip4 RAB11 family interacting protein 4 gene DOID:9008086 Developmental Disabilities ISO RGD:1348691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 9008783 Tmem258 transmembrane protein 258 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351820 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9008783 Tmem258 transmembrane protein 258 gene DOID:1059 intellectual disability ISO RGD:1351820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9008783 Tmem258 transmembrane protein 258 gene DOID:630 genetic disease ISO RGD:1351820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008798 Prkx protein kinase cAMP-dependent X-linked catalytic subunit gene DOID:12849 autistic disorder ISO RGD:1353983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9008798 Prkx protein kinase cAMP-dependent X-linked catalytic subunit gene DOID:630 genetic disease ISO RGD:1353983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008798 Prkx protein kinase cAMP-dependent X-linked catalytic subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9008811 Rorc RAR related orphan receptor C gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1317896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25395965 9008811 Rorc RAR related orphan receptor C gene DOID:0111940 immunodeficiency 42 ISO RGD:1317896 D RGD:7240710 20180130 OMIM 9008811 Rorc RAR related orphan receptor C gene DOID:0111940 immunodeficiency 42 ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | ClinVar Annotator: match by term: Immunodeficiency 42 PMID:16199547|PMID:25741868|PMID:26160376|PMID:28492532 9008811 Rorc RAR related orphan receptor C gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9008811 Rorc RAR related orphan receptor C gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1317896 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9008811 Rorc RAR related orphan receptor C gene DOID:1540 parathyroid carcinoma ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9008811 Rorc RAR related orphan receptor C gene DOID:5812 MHC class II deficiency ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9008811 Rorc RAR related orphan receptor C gene DOID:630 genetic disease ISO RGD:1317896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9008811 Rorc RAR related orphan receptor C gene DOID:874 bacterial pneumonia severity ISO RGD:1317897 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 9008811 Rorc RAR related orphan receptor C gene DOID:9002311 Experimental Autoimmune Myocarditis severity ISO RGD:1595785 D RGD:9068941 20200903 RGD PMID:28892130|REF_RGD_ID:38549573 9008811 Rorc RAR related orphan receptor C gene DOID:9005106 Animal Toxoplasmosis ISO RGD:1317897 D RGD:9068941 20200820 RGD mRNA:increased expression:placenta: PMID:21923716|REF_RGD_ID:38501105 9008811 Rorc RAR related orphan receptor C gene DOID:9005372 Inflammation ISO RGD:1317896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22325453 9008811 Rorc RAR related orphan receptor C gene DOID:9007204 Dysbiosis treatment ISO RGD:1595785 D RGD:9068941 20200903 RGD PMID:32227764|REF_RGD_ID:38549571 9008811 Rorc RAR related orphan receptor C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9008835 Cpne6 copine 6 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 9008835 Cpne6 copine 6 gene DOID:630 genetic disease ISO RGD:1313396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008835 Cpne6 copine 6 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313396 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 9008835 Cpne6 copine 6 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313396 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9008857 Znf839 zinc finger protein 839 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1343787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 9008857 Znf839 zinc finger protein 839 gene DOID:630 genetic disease ISO RGD:1343787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008872 Kiaa0513 KIAA0513 ortholog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1351889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 9008872 Kiaa0513 KIAA0513 ortholog gene DOID:5419 schizophrenia ISO RGD:1351889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9008872 Kiaa0513 KIAA0513 ortholog gene DOID:630 genetic disease ISO RGD:1351889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia ISO RGD:1352127 D RGD:7240710 20180130 OMIM 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia ISO RGD:1352127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 13 with or without anosmia PMID:22335740|PMID:24033266|PMID:25741868|PMID:28492532 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1352127 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:10591 pre-eclampsia ISO RGD:1352127 D RGD:9068941 20200609 RGD mRNA:decreased expression:whole blood PMID:16952198|REF_RGD_ID:2292128 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:11054 urinary bladder cancer ISO RGD:1352127 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:loss of expression in all invasive tumors vs normal urothelium, ecpression also associated with histological stage and overall survival PMID:12547718|REF_RGD_ID:2292136 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:12849 autistic disorder ISO RGD:1352127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:1540 parathyroid carcinoma ISO RGD:1352127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:1923 disorder of sexual development ISO RGD:1352127 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:2671 transitional cell carcinoma ISO RGD:1352127 D RGD:9068941 20200609 RGD urinary bladder TCC; mRNA:increased expression:tumor:versus normal bladder, no difference between low- and high-grade tumors PMID:17164231|REF_RGD_ID:2292127 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:1352127 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15949424|REF_RGD_ID:2302170 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1352127 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors PMID:15592684|REF_RGD_ID:2289400 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:4001 ovarian carcinoma disease_progression ISO RGD:1352127 D RGD:9068941 20200609 RGD PMID:18005407|REF_RGD_ID:2302169 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:4085 trophoblastic neoplasm ISO RGD:1352127 D RGD:9068941 20200609 RGD Gestational Trophoblastic Neoplasms, MeSH:D031901; protein:increased expression:plasma:pre-chemotherapy levels significantly elevated vs normal or post-chemotherapy (p<0.0001) PMID:16757546|REF_RGD_ID:2292132 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352127 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21383688 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:630 genetic disease ISO RGD:1352127 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352127 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21383688 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:9000217 Stomach Neoplasms ISO RGD:1352127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:9000965 Neoplasm Metastasis ISO RGD:1352127 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms PMID:16283480|REF_RGD_ID:2298668 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:9001239 Delayed Puberty ISO RGD:1352127 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527035 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1352127 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1352127 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:tumor:higher in tumor vs normal tissue, significantly higher in node-positive vs node-negative (p=0.02) PMID:16320113|REF_RGD_ID:2292135 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:9008939 Breast Neoplasms severity ISO RGD:1352127 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:high levels of both KISS1 and KISS1R in ERalpha+ tumors treated with tamoxifen associated with shorter relapse-free survival PMID:17914099|REF_RGD_ID:2292123 9008896 Kiss1 KiSS-1 metastasis suppressor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352127 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9008904 Jcad junctional cadherin 5 associated gene DOID:3393 coronary artery disease ISO RGD:1346091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21378988 9008904 Jcad junctional cadherin 5 associated gene DOID:630 genetic disease ISO RGD:1346091 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0040083 Chlamydia pneumonia severity ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:29893841|REF_RGD_ID:40890270 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0040084 Streptococcus pneumonia treatment ISO RGD:1322206 D RGD:9068941 20201211 RGD associated with immunodeficiency 14 PMID:30093657|REF_RGD_ID:40890269 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1322205 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1322205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21173233 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0050746 mantle cell lymphoma ISO RGD:1322205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23676220 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322205 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0111936 immunodeficiency 14 ISO RGD:1322205 D RGD:7240710 20180130 OMIM 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:0111936 immunodeficiency 14 ISO RGD:1322205 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive | ClinVar Annotator: match by term: p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY PMID:16199547|PMID:16984281|PMID:17576681|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:27426521|PMID:27555459|PMID:27577878|PMID:27697496|PMID:28104464|PMID:28167755|PMID:28190860|PMID:28492532|PMID:29330011|PMID:29921932|PMID:30138677|PMID:30499059|PMID:30639166|PMID:31031754|PMID:31537641|PMID:32084423|PMID:32581362|PMID:32681977|PMID:33225392|PMID:34039074|PMID:34115277|PMID:34692603|PMID:35753512|PMID:36703223|PMID:9536098 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:11573 listeriosis ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:26311905|REF_RGD_ID:40890274 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:1380 endometrial cancer ISO RGD:1352691 D RGD:9068941 20200609 RGD PMID:21478295|REF_RGD_ID:13441595 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:14115 toxic shock syndrome severity ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:28659355|REF_RGD_ID:40890272 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:3068 glioblastoma disease_progression ISO RGD:1322205 D RGD:9068941 20200609 RGD PMID:24523440|REF_RGD_ID:13782051 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:612 primary immunodeficiency disease ISO RGD:1322205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16984281|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:28492532|PMID:32581362 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:630 genetic disease ISO RGD:1322205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1322205 D RGD:7240710 20210505 OMIM 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9000886 Roifman-Chitayat Syndrome ISO RGD:1322205 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic PMID:16984281|PMID:17576681|PMID:19863561|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:28492532|PMID:29180244|PMID:29921932|PMID:32581362|PMID:36703223|PMID:9536098 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9002457 Experimental Arthritis ISO RGD:1322206 D RGD:9068941 20200609 RGD PMID:18412166|REF_RGD_ID:6482696 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9111 cutaneous leishmaniasis treatment ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:27999013|REF_RGD_ID:40890273 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9146 visceral leishmaniasis treatment ISO RGD:1322206 D RGD:9068941 20201211 RGD PMID:27999013|REF_RGD_ID:40890273 9008923 Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta gene DOID:9256 colorectal cancer ISO RGD:1322205 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:25366420|REF_RGD_ID:13432038 9008967 Serpina3 serpin family A member 3 gene DOID:0081063 DICER1 syndrome ISO RGD:1343168 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 9008967 Serpina3 serpin family A member 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1343168 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2432615|REF_RGD_ID:5147458 9008967 Serpina3 serpin family A member 3 gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1343168 D RGD:9068941 20200806 RGD mRNA,protein:increased expression:frontal cortex: PMID:29142239|REF_RGD_ID:36947868 9008967 Serpina3 serpin family A member 3 gene DOID:1485 cystic fibrosis severity ISO RGD:1343168 D RGD:9068941 20200609 RGD PMID:11120905|REF_RGD_ID:5147439 9008967 Serpina3 serpin family A member 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:1343168 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16649161|REF_RGD_ID:5147434 9008967 Serpina3 serpin family A member 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1343168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANTICHYMOTRYPSIN BONN 1 PMID:1351206|PMID:8102759|PMID:8244391 9008967 Serpina3 serpin family A member 3 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1343168 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.A-15T (human) PMID:10849024|REF_RGD_ID:5147441 9008967 Serpina3 serpin family A member 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1343168 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm PMID:8620411|REF_RGD_ID:5147446 9008967 Serpina3 serpin family A member 3 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1343168 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 9008967 Serpina3 serpin family A member 3 gene DOID:630 genetic disease ISO RGD:1343168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008967 Serpina3 serpin family A member 3 gene DOID:784 chronic kidney disease ISO RGD:1343168 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35635602 9008967 Serpina3 serpin family A member 3 gene DOID:865 vasculitis ISO RGD:1343168 D RGD:9068941 20200609 RGD PMID:12685871|REF_RGD_ID:1580110 9008967 Serpina3 serpin family A member 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18383875 9008967 Serpina3 serpin family A member 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1343168 D RGD:9068941 20200609 RGD PMID:12126519|REF_RGD_ID:1580109 9008967 Serpina3 serpin family A member 3 gene DOID:9005420 Peripheral Arterial Occlusive Disease 1 ISO RGD:1343168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral arterial occlusive disease 1 PMID:11289720|PMID:1618300|PMID:25741868|PMID:9040504 9008967 Serpina3 serpin family A member 3 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1343168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANTICHYMOTRYPSIN ISEHARA 1 PMID:11289720|PMID:1618300|PMID:25741868|PMID:9040504 9008967 Serpina3 serpin family A member 3 gene DOID:9007557 Laryngeal Papillomatosis ISO RGD:1343168 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16273852|REF_RGD_ID:5147435 9008967 Serpina3 serpin family A member 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1343168 D RGD:9068941 20200609 RGD PMID:7562495|REF_RGD_ID:5147423 9008967 Serpina3 serpin family A member 3 gene DOID:9455 lipid storage disease ISO RGD:1343168 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15342952|PMID:16919414|PMID:17175557 9008981 Lix1l limb and CNS expressed 1 like gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1350339 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 9008981 Lix1l limb and CNS expressed 1 like gene DOID:1540 parathyroid carcinoma ISO RGD:1350339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9008981 Lix1l limb and CNS expressed 1 like gene DOID:5419 schizophrenia ISO RGD:1350339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9008981 Lix1l limb and CNS expressed 1 like gene DOID:630 genetic disease ISO RGD:1350339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008981 Lix1l limb and CNS expressed 1 like gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:10316 pneumoconiosis ISO RGD:731607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:11832 visual epilepsy ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:14637091|REF_RGD_ID:9589824 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:1824 status epilepticus ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:10582521|REF_RGD_ID:9589822 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:25113670|REF_RGD_ID:9590123 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:3328 temporal lobe epilepsy ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:11292447|REF_RGD_ID:9589829 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:3525 middle cerebral artery infarction ISO RGD:3455 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:15869933|REF_RGD_ID:9590118 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:3717 gastric adenocarcinoma ISO RGD:731607 D RGD:9068941 20220304 RGD associated with metastasis; protein:increased expression:gastric mucosa (human) PMID:16338072|REF_RGD_ID:151660348 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:630 genetic disease ISO RGD:731607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:12895450|REF_RGD_ID:9590113 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:15016081|PMID:18065151|REF_RGD_ID:9589823|REF_RGD_ID:9590124 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:9000998 Brain Injuries ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:12088737|REF_RGD_ID:727637 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:9002189 High Myopia ISO RGD:731607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:9002598 Spastic Paraparesis ISO RGD:731607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraparesis PMID:25741868 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3455 D RGD:9068941 20200609 RGD PMID:16041802|REF_RGD_ID:9590116 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:9003740 Nerve Injuries ISO RGD:3455 D RGD:9068941 20200609 RGD mRNA:increased expression:sciatic nerve PMID:9748513|REF_RGD_ID:9589118 9008992 Ptprz1 protein tyrosine phosphatase receptor type Z1 gene DOID:9008114 Helicobacter Infections ISO RGD:731607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17030583 9009025 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9009025 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1316955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 9009025 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:5419 schizophrenia ISO RGD:1316955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9009025 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:630 genetic disease ISO RGD:1316955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009025 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:9001635 Immunodeficiency 93 ISO RGD:1316955 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy PMID:32905580 9009025 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9009025 Rapgef6 Rap guanine nucleotide exchange factor 6 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316955 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9009075 Prmt2 protein arginine methyltransferase 2 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1605435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 9009075 Prmt2 protein arginine methyltransferase 2 gene DOID:12849 autistic disorder ISO RGD:1605435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9009075 Prmt2 protein arginine methyltransferase 2 gene DOID:2841 asthma ISO RGD:1565519 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, spleen PMID:20423833|REF_RGD_ID:9491823 9009075 Prmt2 protein arginine methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1605435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009133 Hdac4 histone deacetylase 4 gene DOID:0050581 brachydactyly ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20691407 9009133 Hdac4 histone deacetylase 4 gene DOID:0050696 fetal alcohol spectrum disorder ISO RGD:619979 D RGD:9068941 20240201 RGD mRNA,protein:increased expression:pituitary gland (rat) PMID:26509893|REF_RGD_ID:11344152 9009133 Hdac4 histone deacetylase 4 gene DOID:0050888 syndromic intellectual disability ISO RGD:1316832 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 9009133 Hdac4 histone deacetylase 4 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1316832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9009133 Hdac4 histone deacetylase 4 gene DOID:0110972 brachydactyly type E1 ISO RGD:1316832 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Brachydactyly syndrome type E PMID:11486037|PMID:25741868|PMID:33537682 9009133 Hdac4 histone deacetylase 4 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1316832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9009133 Hdac4 histone deacetylase 4 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 9009133 Hdac4 histone deacetylase 4 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1316832 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:11486037|PMID:20691407|PMID:23188045|PMID:24715439|PMID:25741868|PMID:28492532|PMID:33537682 9009133 Hdac4 histone deacetylase 4 gene DOID:1059 intellectual disability ISO RGD:1316832 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: Intellectual disability, severe PMID:11486037|PMID:25741868|PMID:28492532|PMID:33537682 9009133 Hdac4 histone deacetylase 4 gene DOID:10907 microcephaly ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9009133 Hdac4 histone deacetylase 4 gene DOID:11054 urinary bladder cancer ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21507255 9009133 Hdac4 histone deacetylase 4 gene DOID:11832 visual epilepsy ISO RGD:1550759 D RGD:9068941 20200609 RGD PMID:19672313|REF_RGD_ID:9681457 9009133 Hdac4 histone deacetylase 4 gene DOID:12377 spinal muscular atrophy ISO RGD:1550759 D RGD:9068941 20200609 RGD mRNA:increased expression:muscle: PMID:22798624|REF_RGD_ID:9681458 9009133 Hdac4 histone deacetylase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1316832 D RGD:9068941 20200609 RGD protein:altered localization:nucleus: PMID:22466704|REF_RGD_ID:9681455 9009133 Hdac4 histone deacetylase 4 gene DOID:12704 ataxia telangiectasia ISO RGD:1550759 D RGD:9068941 20200609 RGD protein:altered localization:nucleus: PMID:22466704|REF_RGD_ID:9681455 9009133 Hdac4 histone deacetylase 4 gene DOID:12704 ataxia telangiectasia treatment ISO RGD:1316832 D RGD:9068941 20200609 RGD PMID:22466704|REF_RGD_ID:9681455 9009133 Hdac4 histone deacetylase 4 gene DOID:14557 primary pulmonary hypertension ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22711276 9009133 Hdac4 histone deacetylase 4 gene DOID:1790 malignant mesothelioma ISO RGD:1316832 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 9009133 Hdac4 histone deacetylase 4 gene DOID:1875 impotence ISO RGD:1316832 D RGD:9068941 20200609 RGD protein:increased expression:penis: PMID:24636283|REF_RGD_ID:9590194 9009133 Hdac4 histone deacetylase 4 gene DOID:1936 atherosclerosis ameliorates ISO RGD:1550759 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 9009133 Hdac4 histone deacetylase 4 gene DOID:2773 contact dermatitis ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9009133 Hdac4 histone deacetylase 4 gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1316832 D RGD:9068941 20200609 RGD PMID:23824486|REF_RGD_ID:9681450 9009133 Hdac4 histone deacetylase 4 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619979 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:23480850|REF_RGD_ID:9681449 9009133 Hdac4 histone deacetylase 4 gene DOID:3627 aortic aneurysm ISO RGD:1316832 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta: PMID:19389706|REF_RGD_ID:9681448 9009133 Hdac4 histone deacetylase 4 gene DOID:630 genetic disease ISO RGD:1316832 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11486037|PMID:25741868|PMID:28492532|PMID:33537682 9009133 Hdac4 histone deacetylase 4 gene DOID:6432 pulmonary hypertension ISO RGD:1316832 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 9009133 Hdac4 histone deacetylase 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1316832 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:21837748|REF_RGD_ID:9681451 9009133 Hdac4 histone deacetylase 4 gene DOID:8466 retinal degeneration treatment ISO RGD:1316832 D RGD:9068941 20200609 RGD PMID:19131628|REF_RGD_ID:9681456 9009133 Hdac4 histone deacetylase 4 gene DOID:8670 eating disorder ISO RGD:1316832 D RGD:9068941 20200609 RGD DNA:missense mutation:cds: PMID:24216484|REF_RGD_ID:9681452 9009133 Hdac4 histone deacetylase 4 gene DOID:8670 eating disorder ISO RGD:1550759 D RGD:9068941 20220825 MouseDO 9009133 Hdac4 histone deacetylase 4 gene DOID:9000784 Fibrosis ISO RGD:619979 D RGD:9068941 20200609 RGD protein:increased expression:penis: PMID:24636283|REF_RGD_ID:9590194 9009133 Hdac4 histone deacetylase 4 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1316832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9009133 Hdac4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1316832 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 9009133 Hdac4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1550759 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 9009133 Hdac4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619979 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 9009133 Hdac4 histone deacetylase 4 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:619979 D RGD:9068941 20200609 RGD PMID:24717296|REF_RGD_ID:9590311 9009133 Hdac4 histone deacetylase 4 gene DOID:9002661 Diabetes Complications ISO RGD:1316832 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35554780 9009133 Hdac4 histone deacetylase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 9009133 Hdac4 histone deacetylase 4 gene DOID:9004484 Sepsis ISO RGD:619979 D RGD:9068941 20200609 RGD PMID:23925573|REF_RGD_ID:9681446 9009133 Hdac4 histone deacetylase 4 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17988634 9009133 Hdac4 histone deacetylase 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619979 D RGD:9068941 20200609 RGD protein:increased activity:renal cortex: PMID:19553350|REF_RGD_ID:9590229 9009133 Hdac4 histone deacetylase 4 gene DOID:9005754 Hypoalgesia ISO RGD:1550759 D RGD:9068941 20200609 RGD PMID:19672313|REF_RGD_ID:9681457 9009133 Hdac4 histone deacetylase 4 gene DOID:9006182 Carotid Artery Injuries ISO RGD:619979 D RGD:9068941 20200609 RGD protein:increased expression:carotid artery: PMID:19389706|REF_RGD_ID:9681448 9009133 Hdac4 histone deacetylase 4 gene DOID:9006432 Brachydactyly, Type E ISO RGD:1316832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24715439 9009133 Hdac4 histone deacetylase 4 gene DOID:9007096 Stroke ISO RGD:619979 D RGD:9068941 20200609 RGD PMID:24657831|REF_RGD_ID:9590303 9009133 Hdac4 histone deacetylase 4 gene DOID:9007607 NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:1316832 D RGD:7240710 20220511 OMIM 9009133 Hdac4 histone deacetylase 4 gene DOID:9007607 NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES ISO RGD:1316832 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies PMID:11486037|PMID:25741868|PMID:33537682 9009133 Hdac4 histone deacetylase 4 gene DOID:9538 multiple myeloma ISO RGD:1316832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 9009133 Hdac4 histone deacetylase 4 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:1316832 D RGD:9068941 20200609 RGD PMID:23948281|REF_RGD_ID:9681454 9009133 Hdac4 histone deacetylase 4 gene DOID:9970 obesity ISO RGD:1316832 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:mononuclear cell, adipose tissue: PMID:24086512|REF_RGD_ID:9681453 9009179 Sall3 spalt like transcription factor 3 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1321014 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 9009179 Sall3 spalt like transcription factor 3 gene DOID:0080695 Burn-McKeown syndrome ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003 9009179 Sall3 spalt like transcription factor 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 9009179 Sall3 spalt like transcription factor 3 gene DOID:630 genetic disease ISO RGD:1321014 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009179 Sall3 spalt like transcription factor 3 gene DOID:6420 pulmonary valve stenosis ISO RGD:1321014 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 9009179 Sall3 spalt like transcription factor 3 gene DOID:8445 intestinal volvulus ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 9009179 Sall3 spalt like transcription factor 3 gene DOID:8584 Burkitt lymphoma ISO RGD:1321014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 9009179 Sall3 spalt like transcription factor 3 gene DOID:9001156 Oculootofacial Dysplasia ISO RGD:1321014 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003 9009179 Sall3 spalt like transcription factor 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9009179 Sall3 spalt like transcription factor 3 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1321014 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 9009179 Sall3 spalt like transcription factor 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15282310 9009179 Sall3 spalt like transcription factor 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321014 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 9009192 Psmb8 proteasome 20S subunit beta 8 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:731895 D RGD:7240710 20180130 OMIM 9009192 Psmb8 proteasome 20S subunit beta 8 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:731895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:16199547|PMID:20159315|PMID:20534754|PMID:21129723|PMID:21881205|PMID:21953331|PMID:23768303|PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532|PMID:28895430|PMID:8495043 9009192 Psmb8 proteasome 20S subunit beta 8 gene DOID:0060009 MHC class I deficiency ISO RGD:731895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class I deficiency PMID:28492532 9009192 Psmb8 proteasome 20S subunit beta 8 gene DOID:0060913 proteosome-associated autoinflammatory syndrome ISO RGD:731895 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome PMID:26524591|PMID:28492532 9009192 Psmb8 proteasome 20S subunit beta 8 gene DOID:0080600 COVID-19 ISO RGD:731895 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9009192 Psmb8 proteasome 20S subunit beta 8 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:731895 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532 9009192 Psmb8 proteasome 20S subunit beta 8 gene DOID:630 genetic disease ISO RGD:731895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9009192 Psmb8 proteasome 20S subunit beta 8 gene DOID:9001174 Nakajo Syndrome ISO RGD:731895 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nodular erythema digital changes PMID:20159315|PMID:20534754|PMID:21129723|PMID:21953331|PMID:25741868|PMID:26524591|PMID:28492532 9009192 Psmb8 proteasome 20S subunit beta 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9009202 Nudt7 nudix hydrolase 7 gene DOID:0060041 autism spectrum disorder ISO RGD:1350832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 9009202 Nudt7 nudix hydrolase 7 gene DOID:630 genetic disease ISO RGD:1350832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009202 Nudt7 nudix hydrolase 7 gene DOID:9007188 Liver Neoplasms ISO RGD:1350832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 9009210 Ccdc160 coiled-coil domain containing 160 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9009210 Ccdc160 coiled-coil domain containing 160 gene DOID:0112127 HRPT-related hyperuricemia ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:11018746|PMID:15571220|PMID:17027311|PMID:22157001|PMID:23975452|PMID:28492532|PMID:6087154 9009210 Ccdc160 coiled-coil domain containing 160 gene DOID:12849 autistic disorder ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9009210 Ccdc160 coiled-coil domain containing 160 gene DOID:630 genetic disease ISO RGD:3379453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009220 Grhl3 grainyhead like transcription factor 3 gene DOID:0060239 Van der Woude syndrome ISO RGD:1318023 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1 PMID:25741868|PMID:36901693 9009220 Grhl3 grainyhead like transcription factor 3 gene DOID:0080074 neural tube defect ISO RGD:1318023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6635991 9009220 Grhl3 grainyhead like transcription factor 3 gene DOID:0110213 isolated cleft palate ISO RGD:1318023 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:25741868|PMID:27018475|PMID:28492532 9009220 Grhl3 grainyhead like transcription factor 3 gene DOID:630 genetic disease ISO RGD:1318023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24360809|PMID:28276201|PMID:28492532|PMID:28886269 9009220 Grhl3 grainyhead like transcription factor 3 gene DOID:9001916 Fetal Death ISO RGD:1318023 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6635991 9009220 Grhl3 grainyhead like transcription factor 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1318023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9009220 Grhl3 grainyhead like transcription factor 3 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1318023 D RGD:7240710 20180130 OMIM 9009220 Grhl3 grainyhead like transcription factor 3 gene DOID:9008934 Van der Woude Syndrome 2 ISO RGD:1318023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Van der Woude syndrome 2 PMID:11781685|PMID:16199547|PMID:20184620|PMID:22590528|PMID:22829784|PMID:24033266|PMID:24360809|PMID:25741868|PMID:28492532 9009240 Tgds TDP-glucose 4,6-dehydratase gene DOID:0081122 Catel Manzke syndrome ISO RGD:1315219 D RGD:7240710 20180130 OMIM 9009240 Tgds TDP-glucose 4,6-dehydratase gene DOID:0081122 Catel Manzke syndrome ISO RGD:1315219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome PMID:18501694|PMID:22887726|PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187|PMID:9777339 9009240 Tgds TDP-glucose 4,6-dehydratase gene DOID:0110878 holoprosencephaly 5 ISO RGD:1315219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 9009240 Tgds TDP-glucose 4,6-dehydratase gene DOID:630 genetic disease ISO RGD:1315219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18501694|PMID:25480037|PMID:25741868|PMID:26366375|PMID:28422407|PMID:28492532|PMID:31769200|PMID:31833187 9009240 Tgds TDP-glucose 4,6-dehydratase gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1315219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9009240 Tgds TDP-glucose 4,6-dehydratase gene DOID:9006419 Congenital Microcoria ISO RGD:1315219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital miosis PMID:32672565 9009279 Dclk3 doublecortin like kinase 3 gene DOID:630 genetic disease ISO RGD:1352758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009288 Atf2 activating transcription factor 2 gene DOID:0050702 neonatal period electroclinical syndrome ISO RGD:12390251 D RGD:9068941 20220630 OMIA Neonatal encephalopathy with seizures PMID:18074159|PMID:33244473 9009288 Atf2 activating transcription factor 2 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:732287 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 9009288 Atf2 activating transcription factor 2 gene DOID:10652 Alzheimer's disease ISO RGD:732287 D RGD:9068941 20200609 RGD PMID:15878807|PMID:9138733|REF_RGD_ID:10047399|REF_RGD_ID:10047400 9009288 Atf2 activating transcription factor 2 gene DOID:10763 hypertension ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:11358932|REF_RGD_ID:10047414 9009288 Atf2 activating transcription factor 2 gene DOID:11049 meconium aspiration syndrome ISO RGD:736761 D RGD:9068941 20220825 MouseDO 9009288 Atf2 activating transcription factor 2 gene DOID:11870 Pick's disease ISO RGD:732287 D RGD:9068941 20200609 RGD PMID:16496165|REF_RGD_ID:10047401 9009288 Atf2 activating transcription factor 2 gene DOID:12858 Huntington's disease ISO RGD:732287 D RGD:9068941 20200609 RGD PMID:15878807|REF_RGD_ID:10047400 9009288 Atf2 activating transcription factor 2 gene DOID:14566 disease of cellular proliferation ISO RGD:732287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23591579 9009288 Atf2 activating transcription factor 2 gene DOID:1686 glaucoma ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:17586494|REF_RGD_ID:10047416 9009288 Atf2 activating transcription factor 2 gene DOID:224 transient cerebral ischemia ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:10077326|PMID:9813301|REF_RGD_ID:10047405|REF_RGD_ID:10047413 9009288 Atf2 activating transcription factor 2 gene DOID:2256 osteochondrodysplasia ISO RGD:736761 D RGD:9068941 20220825 MouseDO OMIM:215050 9009288 Atf2 activating transcription factor 2 gene DOID:5419 schizophrenia ISO RGD:732287 D RGD:9068941 20200609 RGD protein:increased expression:cerebellar vermis PMID:10891039|REF_RGD_ID:10047412 9009288 Atf2 activating transcription factor 2 gene DOID:630 genetic disease ISO RGD:732287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009288 Atf2 activating transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:732287 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23591579 9009288 Atf2 activating transcription factor 2 gene DOID:9004001 Facial Nerve Injuries ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:9813301|REF_RGD_ID:10047413 9009288 Atf2 activating transcription factor 2 gene DOID:9005930 Endotoxemia ISO RGD:621862 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:small intestine mucosa PMID:21641970|REF_RGD_ID:5135029 9009288 Atf2 activating transcription factor 2 gene DOID:9005930 Endotoxemia treatment ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:24312512|REF_RGD_ID:10047418 9009288 Atf2 activating transcription factor 2 gene DOID:9008091 Optic Nerve Injuries ISO RGD:621862 D RGD:9068941 20200609 RGD PMID:10366744|REF_RGD_ID:10047417 9009321 Fam81b family with sequence similarity 81 member B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603176 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9009321 Fam81b family with sequence similarity 81 member B gene DOID:630 genetic disease ISO RGD:1603176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009321 Fam81b family with sequence similarity 81 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603176 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9009321 Fam81b family with sequence similarity 81 member B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603176 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9009336 Gmfb glia maturation factor beta gene DOID:0090043 dystonia 5 ISO RGD:735553 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 9009336 Gmfb glia maturation factor beta gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:735553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:18252212|PMID:21340693|PMID:28492532 9009336 Gmfb glia maturation factor beta gene DOID:630 genetic disease ISO RGD:735553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:732748 D RGD:7240710 20190315 OMIM 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:0080130 mitochondrial DNA depletion syndrome 12a ISO RGD:732748 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:0080335 mitochondrial DNA depletion syndrome 12b ISO RGD:732748 D RGD:7240710 20180130 OMIM 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:0080335 mitochondrial DNA depletion syndrome 12b ISO RGD:732748 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive PMID:16155110|PMID:21549803|PMID:22187496|PMID:22497660|PMID:23401503|PMID:25732997|PMID:25741868|PMID:26467025|PMID:27693233|PMID:28492532|PMID:28823815|PMID:29654543|PMID:29892051|PMID:30174309|PMID:31028937|PMID:33923309|PMID:7609449|PMID:8479824|PMID:9207786 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:732748 D RGD:9068941 20200609 RGD PMID:12056860|REF_RGD_ID:9681470 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:732748 D RGD:7240710 20180130 OMIM 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 ISO RGD:732748 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 PMID:10364542|PMID:10926541|PMID:11756613|PMID:12112115|PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:26467025|PMID:27693233|PMID:28492532|PMID:28823815|PMID:29654543|PMID:33923309|PMID:8644740 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:732748 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233|PMID:28823815|PMID:29654543|PMID:33923309 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:10652 Alzheimer's disease ISO RGD:732748 D RGD:9068941 20200609 RGD PMID:21958963|REF_RGD_ID:9681463 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:732748 D RGD:9068941 20200609 RGD PMID:15551024|REF_RGD_ID:1580621 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:11830 myopia ISO RGD:732748 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Myopia PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233|PMID:28823815|PMID:29654543|PMID:33923309 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732748 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233|PMID:28823815|PMID:29654543|PMID:33923309 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:732748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:732748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:12935 alcoholic cardiomyopathy ISO RGD:620352 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:myocardium PMID:21169901|REF_RGD_ID:9681464 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:397 restrictive cardiomyopathy ISO RGD:732748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:25741868|PMID:28492532 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:630 genetic disease ISO RGD:732748 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:699 mitochondrial myopathy ISO RGD:732748 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233|PMID:28823815|PMID:29654543|PMID:33923309 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:700 mitochondrial metabolism disease ISO RGD:732748 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:9003936 Cardiomegaly treatment ISO RGD:620352 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17210842|REF_RGD_ID:9681469 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:732748 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233|PMID:28823815|PMID:29654543|PMID:33923309 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:732748 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18945756 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:9007346 Cachexia ISO RGD:620352 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma PMID:23200745|REF_RGD_ID:13782066 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:9007736 Vertigo ISO RGD:732748 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Vertigo PMID:16155110|PMID:21549803|PMID:22497660|PMID:25741868|PMID:27693233|PMID:28823815|PMID:29654543|PMID:33923309 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620352 D RGD:9068941 20200609 RGD PMID:24126566|REF_RGD_ID:9681554 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:9007925 Sudden Cardiac Death ISO RGD:732748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Family history of sudden cardiac death PMID:25741868|PMID:28492532 9009375 Slc25a4 solute carrier family 25 member 4 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:732748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 9009390 Polr3d RNA polymerase III subunit D gene DOID:630 genetic disease ISO RGD:1323468 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009390 Polr3d RNA polymerase III subunit D gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1323468 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:1318351 D RGD:7240710 20180130 OMIM 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:0060745 Doyne honeycomb retinal dystrophy ISO RGD:1318351 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy | ClinVar Annotator: match by term: Malattia leventinese PMID:10369267|PMID:11384588|PMID:11389162|PMID:12242346|PMID:17666404|PMID:22031286|PMID:25077532|PMID:25741868|PMID:26162006|PMID:28492532|PMID:30541486|PMID:33542268|PMID:33546218 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1068 juvenile glaucoma ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:11353 bladder diverticulum ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diverticulum of bladder PMID:25741868 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1283 enterocele ISO RGD:1318352 D RGD:9068941 20200609 RGD PMID:17872905|REF_RGD_ID:10401789 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1432 blindness ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blindness PMID:25741868 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1790 malignant mesothelioma ISO RGD:1318351 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:27032653 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:1793 pancreatic cancer ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208748 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:299 adenocarcinoma ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:305 carcinoma ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:3070 high grade glioma ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:increased expression:brain: PMID:19887559|REF_RGD_ID:10401656 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:3144 cutis laxa ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:25741868 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:4448 macular degeneration ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:altered expression: : PMID:12242346|REF_RGD_ID:10401794 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:4448 macular degeneration ISO RGD:1318352 D RGD:9068941 20200609 RGD PMID:17666404|REF_RGD_ID:10401788 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:4448 macular degeneration no_association ISO RGD:1318352 D RGD:9068941 20200609 RGD PMID:17872905|REF_RGD_ID:10401789 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:630 genetic disease ISO RGD:1318351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:657 adenoma ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:decreased expression: : PMID:24080855|REF_RGD_ID:10401654 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:decreased expression:liver: PMID:23936443|REF_RGD_ID:10401793 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:8501 fundus dystrophy ISO RGD:1318351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10369267|PMID:11384588|PMID:11389162|PMID:12242346|PMID:17666404|PMID:22031286|PMID:25077532|PMID:25741868|PMID:26162006|PMID:28492532|PMID:30541486|PMID:33542268|PMID:33546218 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1318351 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22275171|REF_RGD_ID:10401792 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9002644 Premature Aging ISO RGD:1318352 D RGD:9068941 20200609 RGD PMID:17872905|REF_RGD_ID:10401789 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9003598 Glaucoma 1, Open Angle, H ISO RGD:1318351 D RGD:7240710 20240313 OMIM 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17671114 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9007529 Marfan Syndrome, Autosomal Recessive ISO RGD:1318351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recessive Marfanoid Syndrome with Severe Herniation PMID:28492532|PMID:32006683 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 9009403 Efemp1 EGF containing fibulin extracellular matrix protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1318351 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19115204 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0060017 CD3epsilon deficiency ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:735494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0080690 RASopathy ISO RGD:735494 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0081330 glycogen storage disease Ib ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0110644 long QT syndrome 1 ISO RGD:735494 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:735494 D RGD:7240710 20180130 OMIM 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0110651 long QT syndrome 10 ISO RGD:735494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:16199547|PMID:17576681|PMID:17592081|PMID:20226894|PMID:23174487|PMID:23465283|PMID:23631430|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:30821358|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536098 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0111971 immunodeficiency 18 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0111972 immunodeficiency 19 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:0111973 immunodeficiency 17 ISO RGD:735494 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:1059 intellectual disability ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:2843 long QT syndrome ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:9002990 Familial Atrial Fibrillation 17 ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 17 PMID:23604097 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:735494 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:9007 sudden infant death syndrome ISO RGD:735494 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:20226894|PMID:23465283|PMID:23861362|PMID:25741868|PMID:28492532|PMID:30821358|PMID:31043699 9009417 Scn4b sodium voltage-gated channel beta subunit 4 gene DOID:9007661 Dwarfism ISO RGD:735494 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9009426 Ereg epiregulin gene DOID:0050598 extrapulmonary tuberculosis susceptibility ISO RGD:730898 D RGD:9068941 20201008 RGD DNA:SNP:exon 4: (rs2367707) (human) PMID:30634928|REF_RGD_ID:39457687 9009426 Ereg epiregulin gene DOID:13270 erythropoietic protoporphyria ISO RGD:730898 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19267999 9009426 Ereg epiregulin gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:730898 D RGD:9068941 20201008 RGD DNA:SNP:exon 4: (rs2367707) (human) PMID:30634928|REF_RGD_ID:39457687 9009426 Ereg epiregulin gene DOID:399 tuberculosis susceptibility ISO RGD:730898 D RGD:9068941 20201008 RGD DNA:SNP:intron: (rs7675690) (human) PMID:22170233|REF_RGD_ID:39457686 9009426 Ereg epiregulin gene DOID:630 genetic disease ISO RGD:730898 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009426 Ereg epiregulin gene DOID:684 hepatocellular carcinoma ISO RGD:730898 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35776891 9009426 Ereg epiregulin gene DOID:869 cholesteatoma ISO RGD:730898 D RGD:9068941 20201008 RGD mRNA:increased expression:external acoustic meatus (human) PMID:24256036|REF_RGD_ID:39457690 9009426 Ereg epiregulin gene DOID:9000099 Experimental Colitis ISO RGD:730899 D RGD:9068941 20201008 RGD protein:increased expression:colonic mucosa (mouse) PMID:20498653|REF_RGD_ID:39457688 9009426 Ereg epiregulin gene DOID:9002762 Ovarian Neoplasms ISO RGD:730898 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15313392 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0060599 Nance-Horan syndrome ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0080006 bone development disease ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8955270 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0080467 developmental and epileptic encephalopathy 2 ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0111042 glycogen storage disease IXA ISO RGD:1354498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXa1 PMID:17304053|PMID:18076117|PMID:25315662|PMID:28492532|PMID:30945684 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0112019 non-syndromic X-linked intellectual disability 19 ISO RGD:1354498 D RGD:7240710 20180130 OMIM 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:0112019 non-syndromic X-linked intellectual disability 19 ISO RGD:1354498 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 PMID:10319851|PMID:11180593|PMID:17100996|PMID:19377476|PMID:25741868|PMID:28492532 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:1059 intellectual disability ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10094187|PMID:11180593|PMID:16879200|PMID:19377476|PMID:25741868|PMID:28492532 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:12849 autistic disorder ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1354498 D RGD:7240710 20180130 OMIM 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:3783 Coffin-Lowry syndrome ISO RGD:1354498 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Coffin syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:10094187|PMID:10528858|PMID:11180593|PMID:11992250|PMID:12439904|PMID:12558110|PMID:14986828|PMID:15214012|PMID:15668050|PMID:16199547|PMID:16306095|PMID:16879200|PMID:17304053|PMID:17576681|PMID:17717706|PMID:18076117|PMID:18414213|PMID:19377476|PMID:19888300|PMID:25044551|PMID:25315662|PMID:25741868|PMID:26043507|PMID:26232052|PMID:28492532|PMID:29304373|PMID:30945684|PMID:31130284|PMID:31319225|PMID:32371413|PMID:5581017|PMID:8955270|PMID:9536098|PMID:9837815|PMID:9887375 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:630 genetic disease ISO RGD:1354498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094187|PMID:11180593|PMID:11992250|PMID:16879200|PMID:18414213|PMID:19377476|PMID:22187936|PMID:25644381|PMID:25741868|PMID:26633542|PMID:28492532|PMID:8955270|PMID:9837815 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:684 hepatocellular carcinoma ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561517 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21488662 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9003133 Hypertelorism ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9004507 Hirsutism ISO RGD:1354498 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:25741868|PMID:28492532 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21488662 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9008086 Developmental Disabilities ISO RGD:1354498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9009436 Rps6ka3 ribosomal protein S6 kinase A3 gene DOID:9008514 Psychomotor Disorders ISO RGD:1354498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8955270 9009488 Lta4h leukotriene A4 hydrolase gene DOID:0080600 COVID-19 ISO RGD:1322731 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9009488 Lta4h leukotriene A4 hydrolase gene DOID:10754 otitis media IEP D RGD:11553910|PMID:20433028 20161017 RGD 9009488 Lta4h leukotriene A4 hydrolase gene DOID:1749 squamous cell carcinoma ISO RGD:1311333 D RGD:9068941 20200609 RGD protein:increased expression:tongue, carcinoma, stroma (rat) PMID:17985342|REF_RGD_ID:2316582 9009488 Lta4h leukotriene A4 hydrolase gene DOID:1936 atherosclerosis ISO RGD:1322731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16698924 9009488 Lta4h leukotriene A4 hydrolase gene DOID:2841 asthma ISO RGD:1311333 D RGD:9068941 20200609 RGD mRNA:increased expression:lung, cerebral cortex (rat) PMID:15715933|REF_RGD_ID:2316607 9009488 Lta4h leukotriene A4 hydrolase gene DOID:299 adenocarcinoma ISO RGD:1311333 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (rat) PMID:12865451|REF_RGD_ID:2316606 9009488 Lta4h leukotriene A4 hydrolase gene DOID:630 genetic disease ISO RGD:1322731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009488 Lta4h leukotriene A4 hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9009521 Sec31b SEC31 homolog B, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1317006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009561 Sag S-antigen visual arrestin gene DOID:0050534 congenital stationary night blindness ISO RGD:736449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7670478 9009561 Sag S-antigen visual arrestin gene DOID:0050795 cone dystrophy ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9009561 Sag S-antigen visual arrestin gene DOID:0060476 Perlman syndrome ISO RGD:736449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 9009561 Sag S-antigen visual arrestin gene DOID:0110369 retinitis pigmentosa 47 ISO RGD:736449 D RGD:7240710 20180130 OMIM 9009561 Sag S-antigen visual arrestin gene DOID:0110369 retinitis pigmentosa 47 ISO RGD:736449 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 47 PMID:15234147|PMID:15295660|PMID:17200654|PMID:17576681|PMID:18175313|PMID:21151602|PMID:21447990|PMID:21922265|PMID:21987685|PMID:22419846|PMID:22665972|PMID:23591405|PMID:25268133|PMID:25741868|PMID:28492532|PMID:32531858|PMID:33047631|PMID:7670478|PMID:9452120|PMID:9501883|PMID:9536098|PMID:9565049 9009561 Sag S-antigen visual arrestin gene DOID:0110712 Oguchi disease-1 ISO RGD:736449 D RGD:7240710 20190306 OMIM 9009561 Sag S-antigen visual arrestin gene DOID:0110712 Oguchi disease-1 ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oguchi disease-1 PMID:15234147|PMID:21151602|PMID:22419846|PMID:22581970|PMID:22665972|PMID:25741868|PMID:28492532|PMID:33047631|PMID:9452120 9009561 Sag S-antigen visual arrestin gene DOID:0110713 Oguchi disease-2 ISO RGD:736449 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Oguchi disease-2 PMID:15234147|PMID:21151602|PMID:22419846|PMID:22665972|PMID:25741868|PMID:28492532|PMID:33047631|PMID:9452120 9009561 Sag S-antigen visual arrestin gene DOID:0110991 Joubert syndrome 22 ISO RGD:736449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 9009561 Sag S-antigen visual arrestin gene DOID:10584 retinitis pigmentosa ISO RGD:736449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15234147|PMID:16199547|PMID:18175313|PMID:20981092|PMID:22665972|PMID:22995991|PMID:24265693|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9452120|PMID:9501883 9009561 Sag S-antigen visual arrestin gene DOID:10584 retinitis pigmentosa ISO RGD:736449 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15234147|PMID:16199547|PMID:17576681|PMID:18175313|PMID:20981092|PMID:22665972|PMID:22995991|PMID:24265693|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9452120|PMID:9501883|PMID:9536098 9009561 Sag S-antigen visual arrestin gene DOID:13141 uveitis ISO RGD:736449 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8407215 9009561 Sag S-antigen visual arrestin gene DOID:630 genetic disease ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9009561 Sag S-antigen visual arrestin gene DOID:8498 hereditary night blindness ISO RGD:736449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oguchi disease | ClinVar Annotator: match by term: Stationary night blindness, Oguchi type PMID:15234147|PMID:15295660|PMID:17200654|PMID:17576681|PMID:18175313|PMID:20981092|PMID:21151602|PMID:21447990|PMID:21922265|PMID:21987685|PMID:22419846|PMID:22581970|PMID:22665972|PMID:22995991|PMID:24265693|PMID:25268133|PMID:25741868|PMID:28492532|PMID:30267901|PMID:33047631|PMID:7670478|PMID:9452120|PMID:9501883|PMID:9536098|PMID:9565049 9009561 Sag S-antigen visual arrestin gene DOID:8501 fundus dystrophy ISO RGD:736449 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15234147|PMID:16199547|PMID:21151602|PMID:22419846|PMID:22665972|PMID:25741868|PMID:28492532|PMID:28549094|PMID:29305604|PMID:33047631|PMID:9452120 9009561 Sag S-antigen visual arrestin gene DOID:9002289 Retinitis Pigmentosa 96 ISO RGD:736449 D RGD:7240710 20230215 OMIM 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050459 hyperphosphatemia ISO RGD:1315063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111063 hyperphosphatemic familial tumoral calcinosis ISO RGD:1315063 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cortical hyperostosis with hyperphosphatemia | ClinVar Annotator: match by term: Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome PMID:15133511|PMID:20358599|PMID:25741868|PMID:28492532 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111112 nephronophthisis 1 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:12712 nephronophthisis ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:1315063 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:182 calcinosis ISO RGD:1315063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17710231 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:1826 epilepsy ISO RGD:1315063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:630 genetic disease ISO RGD:1315063 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315063 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34520102 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1315063 D RGD:7240710 20190508 OMIM 9009673 Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1315063 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:13774168|PMID:15133511|PMID:15599692|PMID:15687324|PMID:16528452|PMID:16940445|PMID:17311862|PMID:17351710|PMID:17576681|PMID:18322299|PMID:18618993|PMID:18982401|PMID:20358599|PMID:21347749|PMID:24668887|PMID:25326635|PMID:25351881|PMID:25741868|PMID:25899975|PMID:26337219|PMID:27164190|PMID:27867679|PMID:28492532|PMID:3839626|PMID:3998061|PMID:8338191|PMID:9536098 9009691 Cd7 CD7 molecule gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 9009691 Cd7 CD7 molecule gene DOID:630 genetic disease ISO RGD:1320672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009691 Cd7 CD7 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9009691 Cd7 CD7 molecule gene DOID:9003281 Spontaneous Abortions ISO RGD:1320672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9009701 Znf606 zinc finger protein 606 gene DOID:303 substance-related disorder ISO RGD:1320347 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9009701 Znf606 zinc finger protein 606 gene DOID:630 genetic disease ISO RGD:1320347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009717 Pnpo pyridoxamine 5'-phosphate oxidase gene DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 ISO RGD:1352951 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25741868|PMID:25762494|PMID:28492532 9009717 Pnpo pyridoxamine 5'-phosphate oxidase gene DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency ISO RGD:1352951 D RGD:7240710 20180130 OMIM 9009717 Pnpo pyridoxamine 5'-phosphate oxidase gene DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency ISO RGD:1352951 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pyridoxal phosphate-responsive seizures PMID:15182361|PMID:15772097|PMID:16199547|PMID:17216302|PMID:17576681|PMID:18296573|PMID:18485777|PMID:19759001|PMID:20370816|PMID:21292558|PMID:22858719|PMID:23419474|PMID:23430561|PMID:23708187|PMID:24266778|PMID:24297574|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25256445|PMID:25741868|PMID:25762494|PMID:25979913|PMID:26467025|PMID:26535729|PMID:27014579|PMID:27419045|PMID:27781031|PMID:28133863|PMID:28349276|PMID:28492532|PMID:28929476|PMID:28985901|PMID:29588952|PMID:29610166|PMID:31440721|PMID:32395712|PMID:32788630|PMID:33087887|PMID:34177756|PMID:34769443|PMID:35217610|PMID:35495162|PMID:36007526|PMID:9536098 9009717 Pnpo pyridoxamine 5'-phosphate oxidase gene DOID:1824 status epilepticus ISO RGD:1352951 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19356691 9009717 Pnpo pyridoxamine 5'-phosphate oxidase gene DOID:1826 epilepsy ISO RGD:1352951 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25741868|PMID:25762494|PMID:26467025|PMID:28492532 9009717 Pnpo pyridoxamine 5'-phosphate oxidase gene DOID:630 genetic disease ISO RGD:1352951 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15182361|PMID:17216302|PMID:20370816|PMID:23419474|PMID:23708187|PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25256445|PMID:25741868|PMID:25762494|PMID:25979913|PMID:26467025|PMID:27781031|PMID:28133863|PMID:28492532|PMID:28985901|PMID:31440721|PMID:33087887 9009728 Pik3r6 phosphoinositide-3-kinase regulatory subunit 6 gene DOID:630 genetic disease ISO RGD:1353016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009773 Ubxn1 UBX domain protein 1 gene DOID:0080575 Larsen-like syndrome B3GAT3 type ISO RGD:1606294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:28492532 9009773 Ubxn1 UBX domain protein 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606294 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9009773 Ubxn1 UBX domain protein 1 gene DOID:1059 intellectual disability ISO RGD:1606294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9009773 Ubxn1 UBX domain protein 1 gene DOID:630 genetic disease ISO RGD:1606294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009773 Ubxn1 UBX domain protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9009773 Ubxn1 UBX domain protein 1 gene DOID:9000918 Disease Progression ISO RGD:1606294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9009786 Grm4 glutamate metabotropic receptor 4 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:731311 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9009786 Grm4 glutamate metabotropic receptor 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:731311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15694259 9009786 Grm4 glutamate metabotropic receptor 4 gene DOID:3347 osteosarcoma ISO RGD:731311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23727862 9009786 Grm4 glutamate metabotropic receptor 4 gene DOID:630 genetic disease ISO RGD:731311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009786 Grm4 glutamate metabotropic receptor 4 gene DOID:9002955 Nerve Degeneration ISO RGD:731311 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17446080 9009826 Ccng2 cyclin G2 gene DOID:11934 head and neck cancer ISO RGD:1312769 D RGD:9068941 20220303 RGD mRNA:decreased expression:head and neck (human) PMID:27982046|REF_RGD_ID:151361200 9009826 Ccng2 cyclin G2 gene DOID:1993 rectum cancer ISO RGD:1312769 D RGD:9068941 20220303 RGD mRNA:decreased expression:colon,rectum (human) PMID:27982046|REF_RGD_ID:151361200 9009826 Ccng2 cyclin G2 gene DOID:219 colon cancer ISO RGD:1312769 D RGD:9068941 20220303 RGD mRNA:decreased expression:colon,rectum (human) PMID:27982046|REF_RGD_ID:151361200 9009826 Ccng2 cyclin G2 gene DOID:630 genetic disease ISO RGD:1312769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009826 Ccng2 cyclin G2 gene DOID:684 hepatocellular carcinoma ISO RGD:1312770 D RGD:9068941 20220303 RGD PMID:27982046|REF_RGD_ID:151361200 9009826 Ccng2 cyclin G2 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1312770 D RGD:9068941 20220303 RGD PMID:27982046|REF_RGD_ID:151361200 9009851 Metap1 methionyl aminopeptidase 1 gene DOID:1059 intellectual disability ISO RGD:1313634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:32764695 9009851 Metap1 methionyl aminopeptidase 1 gene DOID:630 genetic disease ISO RGD:1313634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009867 Commd3 COMM domain containing 3 gene DOID:630 genetic disease ISO RGD:1349755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009892 Rps24 ribosomal protein S24 gene DOID:0060794 hypomyelinating leukodystrophy 7 ISO RGD:734142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy PMID:22855961|PMID:25741868|PMID:27029625 9009892 Rps24 ribosomal protein S24 gene DOID:0111887 Diamond-Blackfan anemia 3 ISO RGD:734142 D RGD:7240710 20180130 OMIM 9009892 Rps24 ribosomal protein S24 gene DOID:0111887 Diamond-Blackfan anemia 3 ISO RGD:734142 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 PMID:17186470|PMID:17576681|PMID:20960466|PMID:23812780|PMID:25741868|PMID:26845104|PMID:27329125|PMID:28492532|PMID:29748317|PMID:30228860|PMID:9536098 9009892 Rps24 ribosomal protein S24 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:734142 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:17186470|PMID:17576681|PMID:19689926|PMID:20960466|PMID:22855961|PMID:25741868|PMID:26136524|PMID:27029625|PMID:28492532|PMID:29748317|PMID:9536098 9009892 Rps24 ribosomal protein S24 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:734142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 9009914 Prr36 proline rich 36 gene DOID:630 genetic disease ISO RGD:9588105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009924 Lrrc10b leucine rich repeat containing 10B gene DOID:0050773 paraganglioma ISO RGD:3208116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:22241717|PMID:26096992|PMID:28492532 9009924 Lrrc10b leucine rich repeat containing 10B gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:3208116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9009924 Lrrc10b leucine rich repeat containing 10B gene DOID:1059 intellectual disability ISO RGD:3208116 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9009924 Lrrc10b leucine rich repeat containing 10B gene DOID:630 genetic disease ISO RGD:3208116 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009924 Lrrc10b leucine rich repeat containing 10B gene DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes ISO RGD:3208116 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:22241717|PMID:26096992|PMID:28492532 9009932 Gatad2b GATA zinc finger domain containing 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1606527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9009932 Gatad2b GATA zinc finger domain containing 2B gene DOID:0060368 Parkinson's disease 2 ISO RGD:1606527 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism, early onset, with diurnal fluctuation PMID:25741868|PMID:28492532 9009932 Gatad2b GATA zinc finger domain containing 2B gene DOID:0070048 GAND syndrome ISO RGD:1606527 D RGD:7240710 20180130 OMIM 9009932 Gatad2b GATA zinc finger domain containing 2B gene DOID:0070048 GAND syndrome ISO RGD:1606527 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: GAND SYNDROME | ClinVar Annotator: match by term: GATAD2B-Related Disorder PMID:11756549|PMID:17576681|PMID:21681106|PMID:23033978|PMID:25356899|PMID:25741868|PMID:27159321|PMID:28077840|PMID:28135719|PMID:28191890|PMID:28492532|PMID:30346093|PMID:31205050|PMID:31949314|PMID:32688057|PMID:9536098 9009932 Gatad2b GATA zinc finger domain containing 2B gene DOID:0111940 immunodeficiency 42 ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9009932 Gatad2b GATA zinc finger domain containing 2B gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9009932 Gatad2b GATA zinc finger domain containing 2B gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9009932 Gatad2b GATA zinc finger domain containing 2B gene DOID:1059 intellectual disability ISO RGD:1606527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:23033978|PMID:25356899|PMID:25741868|PMID:27159321|PMID:28492532|PMID:32688057 9009932 Gatad2b GATA zinc finger domain containing 2B gene DOID:1540 parathyroid carcinoma ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9009932 Gatad2b GATA zinc finger domain containing 2B gene DOID:5812 MHC class II deficiency ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9009932 Gatad2b GATA zinc finger domain containing 2B gene DOID:630 genetic disease ISO RGD:1606527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23033978|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28077840|PMID:28135719|PMID:28191890|PMID:28490743|PMID:28492532|PMID:32688057 9009932 Gatad2b GATA zinc finger domain containing 2B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9009966 PALB2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1605949 D RGD:9068941 20240321 RGD DNA:nonsense mutations:exon:172_175del, 3116del, 3256C>T (human) PMID:19264984|REF_RGD_ID:2325776 9009966 Palb2 partner and localizer of BRCA2 gene DOID:0050671 female breast cancer susceptibility ISO RGD:1605949 D RGD:9068941 20220609 RGD DNA:missense mutation:cds: (human) PMID:30303537|REF_RGD_ID:152995259 9009966 Palb2 partner and localizer of BRCA2 gene DOID:0070257 congenital disorder of glycosylation type IIe ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 9009966 Palb2 partner and localizer of BRCA2 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:25741868|PMID:28492532|PMID:33471991 9009966 Palb2 partner and localizer of BRCA2 gene DOID:0080777 lung sarcomatoid carcinoma ISO RGD:1605949 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lung sarcomatoid carcinoma 9009966 Palb2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:7240710 20240320 OMIM 9009966 Palb2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group N PMID:100849|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17924555|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28664506|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29945567|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30337689|PMID:30521987|PMID:30541756|PMID:30638972|PMID:30665703|PMID:30680046|PMID:30720863|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871297|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34608183|PMID:34687117|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35610400 9009966 Palb2 partner and localizer of BRCA2 gene DOID:0111094 Fanconi anemia complementation group N ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group N PMID:35626031|PMID:35806449|PMID:36605468|PMID:36988593 9009966 Palb2 partner and localizer of BRCA2 gene DOID:10534 stomach cancer ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:19264984|PMID:19763884|PMID:20412113|PMID:20852946|PMID:21165770|PMID:21285249|PMID:21618343|PMID:22692731|PMID:23561644|PMID:23935381|PMID:23935836|PMID:24033266|PMID:24136930|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24763289|PMID:24870022|PMID:25099575|PMID:25186627|PMID:25356972|PMID:25452441|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26681312|PMID:26720728|PMID:26845104|PMID:27449771|PMID:27553368|PMID:27624329|PMID:27783279|PMID:27798748|PMID:28152038|PMID:28194609|PMID:28413668|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28724667|PMID:28779002|PMID:29093764|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29506128|PMID:29566657|PMID:29752822|PMID:2980694|PMID:29915322|PMID:29945567|PMID:30067863|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30377213|PMID:30720863|PMID:30792206|PMID:30982232|PMID:31089269|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31619740|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31844177|PMID:31871109|PMID:32068069|PMID:32339256|PMID:32427313|PMID:32566746|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33169439|PMID:33471991|PMID:34439348|PMID:36605468|PMID:36988593 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1324 lung cancer ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26023681|PMID:28492532|PMID:29625052|PMID:29785153|PMID:31159747|PMID:31447099|PMID:31619740 9009966 Palb2 partner and localizer of BRCA2 gene DOID:13636 Fanconi anemia ISO RGD:1605949 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:24136930|PMID:25085752|PMID:25099575|PMID:25741868|PMID:26467025|PMID:26564480|PMID:28492532 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1520 colon carcinoma ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31586400|PMID:31636395|PMID:32546565|PMID:33195396|PMID:33471991 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1520 colon carcinoma ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:29522266|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31586400|PMID:31636395|PMID:31911633|PMID:32546565|PMID:33195396|PMID:33471991 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1520 colon carcinoma ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:18053174|PMID:21285249|PMID:21365267|PMID:21618343|PMID:22692731|PMID:23977390|PMID:25085752|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:28135145|PMID:28492532|PMID:28779002|PMID:28825143|PMID:28944238|PMID:29522266|PMID:30287823|PMID:30303537|PMID:3040479|PMID:30638972|PMID:31214711|PMID:31586400|PMID:31636395|PMID:31911633|PMID:32546565|PMID:33195396|PMID:33471991|PMID:34326862|PMID:34846068|PMID:35610400 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31159747|PMID:31214711|PMID:31300551|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32068069|PMID:32295079|PMID:32339256|PMID:32566746|PMID:32832836|PMID:32854451|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384|PMID:35806449 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33980423|PMID:34371384|PMID:35806449 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31575519|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33811135|PMID:33917078|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34371384|PMID:35806449|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:35806449|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34439348|PMID:34687117|PMID:35264596|PMID:35451682|PMID:35610400|PMID:35806449 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:36243179|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:100849|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27907908|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28243543|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30720863|PMID:30833416|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31481248|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31942411|PMID:32019277|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32997802|PMID:33113089|PMID:33139182|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34113003|PMID:34326862|PMID:34371384|PMID:34439348|PMID:34687117 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1612 breast cancer ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:35264596|PMID:35451682|PMID:35610400|PMID:35806449|PMID:36243179|PMID:36605468|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:7240710 20240320 OMIM 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27624329|PMID:27783279|PMID:27829436|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:30890586|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32295079|PMID:32339256|PMID:32566746|PMID:33139182|PMID:33471991 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33139182|PMID:33471991 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28864920|PMID:28873162|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30093976|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30638972|PMID:30665703|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31575519|PMID:31586400|PMID:31636395|PMID:31757951|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33139182|PMID:33471991 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1793 pancreatic cancer ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 PMID:100849|PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:19264984|PMID:19584259|PMID:19609323|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21365267|PMID:21409391|PMID:22241545|PMID:22692731|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25099575|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25525159|PMID:25575445|PMID:25741868|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26467025|PMID:26489409|PMID:26534844|PMID:26556299|PMID:26564480|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27356891|PMID:27433846|PMID:27595995|PMID:27624329|PMID:27829436|PMID:27878467|PMID:28008555|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29335925|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29478780|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29909963|PMID:29945567|PMID:29961768|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30287823|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30541756|PMID:30638972|PMID:30665703|PMID:30720863|PMID:30833416|PMID:30890586|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31312277|PMID:31447099|PMID:31451522|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31619740|PMID:31636395|PMID:31757951|PMID:31768816|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31921681|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32522261|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32832836|PMID:32853339|PMID:32868316|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33674644|PMID:33917078|PMID:33980423|PMID:34113003|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34846068|PMID:35263119|PMID:35264596|PMID:35610400|PMID:36605468|PMID:36988593|PMID:37239058 9009966 Palb2 partner and localizer of BRCA2 gene DOID:1798 pancreatic endocrine carcinoma ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:28492532|PMID:28724667 9009966 Palb2 partner and localizer of BRCA2 gene DOID:2394 ovarian cancer ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:17200668|PMID:17287723|PMID:18288683|PMID:18302019|PMID:18446436|PMID:19333784|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20722467|PMID:20852946|PMID:20927582|PMID:21165770|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23448497|PMID:23824750|PMID:23935836|PMID:24033266|PMID:24206657|PMID:24448499|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25085752|PMID:25186627|PMID:25356972|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25575445|PMID:25741868|PMID:25980754|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26483394|PMID:26534844|PMID:26689913|PMID:27616075|PMID:27930734|PMID:27978560|PMID:28492532|PMID:28503720|PMID:28767289|PMID:28779002|PMID:28825143|PMID:28873162|PMID:29052111|PMID:29368341|PMID:29387807|PMID:29522266|PMID:30113427|PMID:30287823|PMID:30982232|PMID:31159747|PMID:31214711|PMID:31422574|PMID:31636395|PMID:31742824|PMID:31757951|PMID:32658311|PMID:32659497|PMID:32830346|PMID:32853339|PMID:32980694|PMID:33139182|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33811135 9009966 Palb2 partner and localizer of BRCA2 gene DOID:2513 basal cell carcinoma ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:27878467|PMID:28135048|PMID:28423363|PMID:28492532|PMID:28779002|PMID:32339256|PMID:32566746|PMID:33471991 9009966 Palb2 partner and localizer of BRCA2 gene DOID:2871 endometrial carcinoma ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:17200668|PMID:20091115|PMID:21285249|PMID:21365267|PMID:22241545|PMID:22692731|PMID:25085752|PMID:25186627|PMID:25356972|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26689913|PMID:26692951|PMID:26898890|PMID:28440294|PMID:28492532|PMID:28580595|PMID:28767289|PMID:28779002|PMID:30287823|PMID:31468469|PMID:31636395|PMID:32068069|PMID:32091409|PMID:32566746|PMID:32625235|PMID:32659497|PMID:32885271|PMID:33113089|PMID:33471991|PMID:33563768|PMID:33588785|PMID:36271373 9009966 Palb2 partner and localizer of BRCA2 gene DOID:3302 chordoma ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Chordoma PMID:25085752|PMID:25741868|PMID:26283626|PMID:26315354|PMID:27106063|PMID:27443514|PMID:28492532|PMID:28779002|PMID:29522266|PMID:30303537|PMID:30680046|PMID:31636395|PMID:32546565|PMID:33471991|PMID:34284872|PMID:35762214 9009966 Palb2 partner and localizer of BRCA2 gene DOID:3459 breast carcinoma ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:18302019|PMID:18987736|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:21165770|PMID:21285249|PMID:21365267|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:23448497|PMID:23555315|PMID:23824750|PMID:23935836|PMID:24061862|PMID:24136930|PMID:24206657|PMID:24415441|PMID:24556926|PMID:24728327|PMID:24949998|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25959805|PMID:26083025|PMID:26270727|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26564480|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26878173|PMID:27038244|PMID:27099641|PMID:27106063|PMID:27153395|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28709830|PMID:29052111|PMID:29478780|PMID:29625052|PMID:30086788|PMID:30113427|PMID:30833416|PMID:31159747|PMID:31312277|PMID:31570822|PMID:31586400|PMID:31636395|PMID:31757951|PMID:32295079|PMID:32546565|PMID:32554798|PMID:32658311|PMID:32853339|PMID:32885271|PMID:32997802|PMID:33471991|PMID:33674644|PMID:33964450 9009966 Palb2 partner and localizer of BRCA2 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:25741868|PMID:28492532 9009966 Palb2 partner and localizer of BRCA2 gene DOID:4001 ovarian carcinoma ISO RGD:1605949 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:17200671|PMID:20927582|PMID:21165770|PMID:21365267|PMID:25741868|PMID:26283626|PMID:26296701|PMID:28492532 9009966 Palb2 partner and localizer of BRCA2 gene DOID:4606 bile duct cancer ISO RGD:1605949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bile duct cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823 9009966 Palb2 partner and localizer of BRCA2 gene DOID:4851 pilocytic astrocytoma ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:25741868|PMID:26283626|PMID:28492532|PMID:28664506|PMID:32546565 9009966 Palb2 partner and localizer of BRCA2 gene DOID:4905 pancreatic carcinoma ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:17200668|PMID:17200671|PMID:17200672|PMID:20122277|PMID:20412113|PMID:20582465|PMID:20589654|PMID:21165770|PMID:21285249|PMID:21365267|PMID:24061862|PMID:24136930|PMID:24415441|PMID:25099575|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25741868|PMID:25959805|PMID:26083025|PMID:26270727|PMID:26467025|PMID:26689913|PMID:26720728|PMID:26845104|PMID:27038244|PMID:27099641|PMID:27106063|PMID:28158555|PMID:28279176|PMID:28492532|PMID:28709830|PMID:29052111|PMID:29478780|PMID:29625052|PMID:30086788|PMID:30113427|PMID:30833416|PMID:31159747|PMID:31312277|PMID:31570822|PMID:32295079|PMID:32546565|PMID:32554798|PMID:32853339|PMID:32885271|PMID:32997802|PMID:33471991|PMID:33674644 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:7240710 20240320 OMIM 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33169439|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35806449|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31447099|PMID:31467304|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18794107|PMID:19264984|PMID:19333784|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:25099575|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25741868|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26898890|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30792206|PMID:30833416|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33674644|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33674644|PMID:33917078|PMID:33964450|PMID:34113003|PMID:35264596|PMID:35806449|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:33512806|PMID:33674644|PMID:33811135|PMID:33917078|PMID:33964450|PMID:34026625|PMID:34113003|PMID:35264596|PMID:35610400|PMID:35806449|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30638972|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33120919|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:34026625|PMID:34113003|PMID:34399810|PMID:35089076|PMID:35264596|PMID:35610400|PMID:35806449|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32885271|PMID:32980694|PMID:32997802|PMID:33120919|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:34026625|PMID:34113003|PMID:34399810|PMID:34846068|PMID:35089076|PMID:35264596|PMID:35610400|PMID:35806449|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30651582|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31942411|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33120919|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34326862|PMID:34399810|PMID:34846068|PMID:35089076|PMID:35264596|PMID:35610400|PMID:35806449|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30651582|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31942411|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33120919|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34846068|PMID:35089076|PMID:35264596|PMID:35610400|PMID:35806449|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:100849|PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22052327|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26489409|PMID:26534844|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26786923|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:27038244|PMID:27067391|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27701467|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:28051113|PMID:28135048|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28380452|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28580595|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29190888|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29387807|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29982661|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30521987|PMID:30552643|PMID:30651582|PMID:30665703|PMID:30715675|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31300551|PMID:31312277|PMID:31422574|PMID:31428676|PMID:31447099|PMID:31467304|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31666926|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31942411|PMID:32019277|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32238468|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605949 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:32427313|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33120919|PMID:33127389|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33195396|PMID:33309985|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34204722|PMID:34326862|PMID:34357101|PMID:34399810|PMID:34439348|PMID:34608183|PMID:34793666|PMID:34846068|PMID:35089076|PMID:35171259|PMID:35264596|PMID:35610400|PMID:35676859|PMID:35762214|PMID:35806449|PMID:36605468|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:5889 anaplastic ependymoma ISO RGD:1605949 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Anaplastic ependymoma PMID:21285249|PMID:25085752|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27616075|PMID:28492532|PMID:28678401|PMID:31636395|PMID:33471991 9009966 Palb2 partner and localizer of BRCA2 gene DOID:630 genetic disease ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 9009966 Palb2 partner and localizer of BRCA2 gene DOID:6741 bilateral breast cancer ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: bilateral breast cancer PMID:20852946|PMID:22692731|PMID:24448499|PMID:24556926|PMID:25085752|PMID:25186627|PMID:25479140|PMID:25741868|PMID:26283626|PMID:26315354|PMID:26467025|PMID:26564480|PMID:26898890|PMID:27878467|PMID:28492532|PMID:28779002|PMID:28944238|PMID:29522266|PMID:30306255|PMID:31206626|PMID:31451522|PMID:31512090|PMID:31757951|PMID:32658311|PMID:33195396|PMID:33320972|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33980423|PMID:34426522|PMID:34478935|PMID:36605468 9009966 Palb2 partner and localizer of BRCA2 gene DOID:768 retinoblastoma ISO RGD:1605949 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:23555315|PMID:25085752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28873162|PMID:32832836|PMID:32868316 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9002089 Tumor Predisposition Syndrome 1 ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:24763289|PMID:25099575|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27433846|PMID:28492532 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1605949 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:25741868|PMID:28492532 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9004268 Uterine Neoplasms ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neoplasm of uterus PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:25741868|PMID:27553368|PMID:28492532 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Triple-negative breast cancer PMID:25085752|PMID:25575445|PMID:25741868|PMID:26328243|PMID:26467025|PMID:28492532|PMID:31757951|PMID:33471991|PMID:35263119|PMID:35610400 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22194698|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22995991|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28166811|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30255452|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30447919|PMID:30521987|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30883245|PMID:30890586|PMID:30982232|PMID:30995915|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31206626|PMID:31214711 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:31263054|PMID:31300551|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31447099|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31921681|PMID:31942411|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32426482|PMID:32521533|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33811135|PMID:33910496|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34113003|PMID:34196900|PMID:34284872|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34284872|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35806449|PMID:35853885|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30521987|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34204722|PMID:34284872|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35610400|PMID:35806449|PMID:35853885|PMID:36315513|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32756499|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34399810|PMID:34623906|PMID:34659905|PMID:34793666|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35610400|PMID:35626031|PMID:35806449|PMID:35853885|PMID:36315513|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25897114|PMID:25959805|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28825729|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:30255452|PMID:30257646|PMID:30287823|PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30541756|PMID:30584090|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31468469|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768066|PMID:31768816|PMID:31786208|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531196|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32625235|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32756499|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33320972|PMID:33332384|PMID:33384714|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34204722|PMID:34284872|PMID:34326862|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34399810|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34608183|PMID:34623906|PMID:34659905|PMID:34687117|PMID:34793666|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35451682|PMID:35610400|PMID:35626031|PMID:35806449|PMID:35853885|PMID:36139699|PMID:36243179|PMID:36271373|PMID:36315513|PMID:36605468|PMID:36988593|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:100849|PMID:1378620|PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:202105|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20600922|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22193777|PMID:22194698|PMID:22204421|PMID:22241545|PMID:22310028|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23649399|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25833843|PMID:25897114|PMID:25959805|PMID:2598075|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27907908|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28259476|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28637618|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28825729|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29025590|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29484706|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29802286|PMID:29909963|PMID:29915322|PMID:29922827 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605949 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823|PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30541756|PMID:30564542|PMID:30584090|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31468469|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768066|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32255556|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531196|PMID:3254656|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32625235|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32756499|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33298767|PMID:33309985|PMID:33320972|PMID:33332384|PMID:33384714|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33804961|PMID:33809179|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34204722|PMID:34206535|PMID:34284872|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34399810|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34608183|PMID:34623906|PMID:34659905|PMID:34687117|PMID:34793666|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35171259|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35762214|PMID:35806449|PMID:35853885|PMID:35886069|PMID:36139699|PMID:36175305|PMID:36243179|PMID:36271373|PMID:36315513|PMID:36605468|PMID:36655350|PMID:36988593|PMID:37239058|PMID:37686625|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29945567|PMID:30322717|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32339256|PMID:32566746 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29922827|PMID:29945567|PMID:30322717|PMID:30982232|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32068069|PMID:32339256|PMID:32566746|PMID:33193564 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29922827|PMID:29945567|PMID:30322717|PMID:30720863|PMID:30982232|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32068069|PMID:32339256|PMID:32566746|PMID:33193564|PMID:36988593 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9008939 Breast Neoplasms ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:17200668|PMID:17200671|PMID:17200672|PMID:24033266|PMID:24136930|PMID:24448499|PMID:24556926|PMID:25099575|PMID:25741868|PMID:26315354|PMID:26467025|PMID:26845104|PMID:27624329|PMID:28492532|PMID:28724667|PMID:29566657|PMID:29752822|PMID:29922827|PMID:29945567|PMID:30322717|PMID:30720863|PMID:30982232|PMID:31206626|PMID:31263054|PMID:31447099|PMID:31844177|PMID:32068069|PMID:32339256|PMID:32566746|PMID:33193564|PMID:33471991|PMID:36988593 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605949 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:100849|PMID:1378620|PMID:16199547|PMID:16793542|PMID:17200668|PMID:17200671|PMID:17200672|PMID:17287723|PMID:17420451|PMID:17576681|PMID:17924555|PMID:18053174|PMID:18288683|PMID:18302019|PMID:18446436|PMID:18628482|PMID:18794107|PMID:18987736|PMID:19264984|PMID:19333784|PMID:19369211|PMID:19383810|PMID:19423707|PMID:19584259|PMID:19609323|PMID:19635604|PMID:19763152|PMID:19763819|PMID:19763884|PMID:19863560|PMID:20091115|PMID:20122277|PMID:20153123|PMID:20180015|PMID:202105|PMID:20307669|PMID:20412113|PMID:20582465|PMID:20589654|PMID:20722467|PMID:20852946|PMID:20858716|PMID:20927582|PMID:21113654|PMID:21165770|PMID:21182766|PMID:21184274|PMID:21279724|PMID:21285249|PMID:21356067|PMID:21365267|PMID:21409391|PMID:21618343|PMID:21932393|PMID:21947752|PMID:22006311|PMID:22052327|PMID:22194698|PMID:22241545|PMID:22310028|PMID:22331464|PMID:22406018|PMID:22692731|PMID:22895193|PMID:22980975|PMID:22995991|PMID:23021409|PMID:23110154|PMID:23302520|PMID:23334666|PMID:23341105|PMID:23423317|PMID:23448497|PMID:23471749|PMID:23555315|PMID:23561644|PMID:23649399|PMID:23787919|PMID:23824750|PMID:23934222|PMID:23934836|PMID:23935381|PMID:23935836|PMID:23941127|PMID:23977390|PMID:24033266|PMID:24061862|PMID:24082139|PMID:24136930|PMID:24141787|PMID:24153426|PMID:241536|PMID:24206657|PMID:24240112|PMID:24415441|PMID:24448499|PMID:24485656|PMID:24549055|PMID:24556926|PMID:24728327|PMID:24763289|PMID:24870022|PMID:24949998|PMID:24982446|PMID:24998779|PMID:25085752|PMID:25099575|PMID:25117502|PMID:25186627|PMID:25225064|PMID:25225577|PMID:25239263|PMID:25326637|PMID:25330149|PMID:25356972|PMID:25428789|PMID:25447460|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25575445|PMID:25583207|PMID:25619955|PMID:25636233|PMID:25637381|PMID:25640679|PMID:25666743|PMID:25741868|PMID:25794774|PMID:25833843|PMID:25897114|PMID:25959805|PMID:2598075|PMID:25980754|PMID:26023681|PMID:26057125|PMID:26083025|PMID:26094658|PMID:26110843|PMID:26206375|PMID:26250988|PMID:26270727|PMID:26283626|PMID:26296701|PMID:26315354|PMID:26328243|PMID:26411315|PMID:26467025|PMID:26483394|PMID:26485759|PMID:26489409|PMID:26534844|PMID:26541979|PMID:26556299|PMID:26564480|PMID:26580448|PMID:26635394|PMID:26640152|PMID:26641009|PMID:26649820|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26692951|PMID:26720728|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26845104|PMID:26845227|PMID:26848151|PMID:26878173|PMID:26898890|PMID:26911350|PMID:26968956|PMID:26976419|PMID:26990772|PMID:27038244|PMID:27067391|PMID:27093186|PMID:27099641|PMID:27106063|PMID:27153395|PMID:27328445|PMID:27356891|PMID:27397723|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27469594|PMID:27516001|PMID:27553368|PMID:27573125|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27624329|PMID:27631815|PMID:27648926|PMID:27701467|PMID:27757719|PMID:27779110|PMID:27783279|PMID:27798748|PMID:27803004|PMID:27829436|PMID:27878467|PMID:27907908|PMID:27930734|PMID:27978560|PMID:28008555|PMID:28024868|PMID:28051113|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28158555|PMID:28194609|PMID:28259476|PMID:28279176|PMID:28281021|PMID:28319063|PMID:28380452|PMID:28413668|PMID:28423363|PMID:28440294|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28524162|PMID:28526081|PMID:28528518|PMID:28580595|PMID:28591191|PMID:28664506|PMID:28678401|PMID:28681041|PMID:28709830|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28794409|PMID:28796317|PMID:28821472|PMID:28825143|PMID:28825729|PMID:28828701|PMID:28864920|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28975465|PMID:29052111|PMID:29093764|PMID:29101607|PMID:29190888|PMID:29212164|PMID:29263802|PMID:29335925|PMID:29338689|PMID:29360161|PMID:29368341|PMID:29387807|PMID:29430632|PMID:29431189|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29484706|PMID:29486991|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29706558|PMID:29731985|PMID:29752822|PMID:29753700 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1605949 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast PMID:29785153|PMID:29802286|PMID:2980694|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29982661|PMID:30014022|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30254378|PMID:30255452|PMID:30257646|PMID:30287823|PMID:30289697|PMID:30303537|PMID:30306255|PMID:30309218|PMID:30322717|PMID:30337689|PMID:30344923|PMID:30374176|PMID:30377213|PMID:3040479|PMID:30410870|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30521987|PMID:30541756|PMID:30564542|PMID:30584090|PMID:30613976|PMID:30630526|PMID:30635165|PMID:30638972|PMID:30651582|PMID:30665703|PMID:30675318|PMID:30680046|PMID:30720863|PMID:30792206|PMID:30833416|PMID:30883245|PMID:30890586|PMID:30949167|PMID:30975761|PMID:30982232|PMID:30995915|PMID:31054147|PMID:31060593|PMID:31089269|PMID:31090900|PMID:31125277|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31312277|PMID:31360874|PMID:31382929|PMID:31413733|PMID:31422574|PMID:31428572|PMID:31428676|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31467304|PMID:31468469|PMID:31470354|PMID:31481248|PMID:31512090|PMID:31570822|PMID:31586400|PMID:31589614|PMID:31619740|PMID:31636395|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31757951|PMID:31768066|PMID:31768816|PMID:31786208|PMID:31794323|PMID:31841383|PMID:31843900|PMID:31844177|PMID:31871109|PMID:31871297|PMID:31911633|PMID:31921681|PMID:31942411|PMID:31980526|PMID:32019277|PMID:32039725|PMID:32041954|PMID:32048105|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32098121|PMID:32133419|PMID:32185139|PMID:32206661|PMID:32238468|PMID:32255556|PMID:32268276|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32339256|PMID:32408270|PMID:32426482|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531196|PMID:3254656|PMID:32546565|PMID:32554798|PMID:32561490|PMID:32566746|PMID:32581362|PMID:32606146|PMID:32625235|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32728620|PMID:32756499|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32884827|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32997802|PMID:33113089|PMID:33120919|PMID:33127389|PMID:33128190|PMID:33134171|PMID:33139182|PMID:33169439|PMID:33193564|PMID:33195396|PMID:33224012|PMID:33298767|PMID:33309985|PMID:33320972|PMID:33332384|PMID:33384714|PMID:3347191|PMID:33471991|PMID:33512806|PMID:33558524|PMID:33563768|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33674644|PMID:33718150|PMID:33804961|PMID:33809179|PMID:33811135|PMID:33910496|PMID:33917078|PMID:33964450|PMID:33980423|PMID:34026625|PMID:34034685|PMID:34092963|PMID:34113003|PMID:34196900|PMID:34204722|PMID:34206535|PMID:34284872|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34357101|PMID:34359559|PMID:34371384|PMID:34382369|PMID:34399810|PMID:34426522|PMID:34439348|PMID:34478935|PMID:34608183|PMID:34623906|PMID:34687117|PMID:34793666|PMID:34846068|PMID:34917121|PMID:34946951|PMID:35089076|PMID:35171259|PMID:35220195|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35451682|PMID:35456488|PMID:35534704|PMID:35610400|PMID:35626031|PMID:35676859|PMID:35762214|PMID:35806449|PMID:35853885|PMID:35886069|PMID:36139699|PMID:36175305|PMID:36243179|PMID:36271373|PMID:36315513|PMID:36605468|PMID:36655350|PMID:36988593|PMID:37239058|PMID:37686625|PMID:7200671|PMID:9536098 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9256 colorectal cancer ISO RGD:1605949 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:17420451|PMID:19264984|PMID:23341105|PMID:25099575|PMID:25741868|PMID:26467025|PMID:28492532 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9256 colorectal cancer ISO RGD:1605949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:17200668|PMID:17200671|PMID:17200672|PMID:17420451|PMID:19264984|PMID:23341105|PMID:24136930|PMID:25099575|PMID:25741868|PMID:26467025|PMID:28492532 9009966 Palb2 partner and localizer of BRCA2 gene DOID:9460 uterine corpus cancer ISO RGD:1605949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Uterine corpus cancer PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:28492532 9009983 Pias1 protein inhibitor of activated STAT 1 gene DOID:12712 nephronophthisis ISO RGD:1317273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:26489029 9009983 Pias1 protein inhibitor of activated STAT 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1307843 D RGD:9068941 20200609 RGD PMID:19350281|REF_RGD_ID:8693412 9009983 Pias1 protein inhibitor of activated STAT 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1317273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9009983 Pias1 protein inhibitor of activated STAT 1 gene DOID:2717 Bloom syndrome ISO RGD:1317273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9009983 Pias1 protein inhibitor of activated STAT 1 gene DOID:37 skin disease ISO RGD:1317273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9009983 Pias1 protein inhibitor of activated STAT 1 gene DOID:630 genetic disease ISO RGD:1317273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9009983 Pias1 protein inhibitor of activated STAT 1 gene DOID:9000998 Brain Injuries ISO RGD:1307843 D RGD:9068941 20200609 RGD protein:decreased expression:brain, nucleus PMID:21545521|REF_RGD_ID:8693413 9009983 Pias1 protein inhibitor of activated STAT 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:1317273 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9009983 Pias1 protein inhibitor of activated STAT 1 gene DOID:9256 colorectal cancer ISO RGD:1317273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9010004 OPRM1 opioid receptor mu 1 gene DOID:11206 opioid abuse susceptibility ISO RGD:737513 D RGD:9068941 20240307 RGD mRNA:altered expression:cerebellum (human) PMID:37660978|REF_RGD_ID:402463943 9010004 Oprm1 opioid receptor mu 1 gene DOID:0050741 alcohol dependence ISO RGD:737513 D RGD:9068941 20231007 RGD DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) PMID:16679777|REF_RGD_ID:401827936 9010004 Oprm1 opioid receptor mu 1 gene DOID:0050741 alcohol dependence no_association ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) PMID:11424981|PMID:17374034|PMID:35992511|REF_RGD_ID:401827944|REF_RGD_ID:401827952|REF_RGD_ID:401827953 9010004 Oprm1 opioid receptor mu 1 gene DOID:0050741 alcohol dependence no_association ISO RGD:737513 D RGD:9068941 20231021 RGD DNA:SNP: :rs1799971 (human) PMID:24035285|REF_RGD_ID:401850579 9010004 Oprm1 opioid receptor mu 1 gene DOID:0050741 alcohol dependence sexual_dimorphism ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) PMID:20077761|REF_RGD_ID:401827938 9010004 Oprm1 opioid receptor mu 1 gene DOID:0050741 alcohol dependence treatment ISO RGD:737513 D RGD:9068941 20231012 RGD PMID:30748046|REF_RGD_ID:401831038 9010004 Oprm1 opioid receptor mu 1 gene DOID:0050741 alcohol dependence treatment ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) PMID:18250251|PMID:20077761|REF_RGD_ID:11097488|REF_RGD_ID:401827938 9010004 Oprm1 opioid receptor mu 1 gene DOID:0050742 nicotine dependence disease_progression ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:SNPs: :multiple PMID:19959688|REF_RGD_ID:401827943 9010004 Oprm1 opioid receptor mu 1 gene DOID:0050742 nicotine dependence no_association ISO RGD:737513 D RGD:9068941 20231007 RGD DNA:SNP: :rs510769 PMID:26042510|REF_RGD_ID:401827930 9010004 Oprm1 opioid receptor mu 1 gene DOID:0060001 withdrawal disorder severity ISO RGD:737513 D RGD:9068941 20240309 RGD associated with heroin dependence; DNA:SNP:CDS (rs6848893) (human) PMID:26692286|REF_RGD_ID:11532896 9010004 Oprm1 opioid receptor mu 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1551432 D RGD:9068941 20220825 MouseDO 9010004 Oprm1 opioid receptor mu 1 gene DOID:0060041 autism spectrum disorder ISO RGD:737513 D RGD:9068941 20231012 RGD mRNA:decreased expression:blood PMID:30519864|REF_RGD_ID:401831039 9010004 Oprm1 opioid receptor mu 1 gene DOID:11162 respiratory failure ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 9010004 Oprm1 opioid receptor mu 1 gene DOID:11206 opioid abuse treatment ISO RGD:737513 D RGD:9068941 20240229 RGD DNA:SNP:CDS: rs648893 (human) PMID:37146669|REF_RGD_ID:401976452 9010004 Oprm1 opioid receptor mu 1 gene DOID:11446 sciatic neuropathy ISO RGD:3234 D RGD:9068941 20231012 RGD mRNA, protein:decreased expression:dorsal root ganglion PMID:26917724|REF_RGD_ID:11531866 9010004 Oprm1 opioid receptor mu 1 gene DOID:11446 sciatic neuropathy ISO RGD:3234 D RGD:9068941 20231019 RGD PMID:31836522|REF_RGD_ID:401842373 9010004 Oprm1 opioid receptor mu 1 gene DOID:13413 hepatic encephalopathy ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11991257 9010004 Oprm1 opioid receptor mu 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:3234 D RGD:9068941 20231019 RGD mRNA:decreased expression:hypothalamus, hippocampus PMID:25290008|REF_RGD_ID:401842371 9010004 Oprm1 opioid receptor mu 1 gene DOID:1574 alcohol use disorder ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12815747 9010004 Oprm1 opioid receptor mu 1 gene DOID:1574 alcohol use disorder no_association ISO RGD:737513 D RGD:9068941 20231007 RGD DNA:SNP: :rs510769 PMID:26042510|REF_RGD_ID:401827930 9010004 Oprm1 opioid receptor mu 1 gene DOID:1574 alcohol use disorder no_association ISO RGD:737513 D RGD:9068941 20231007 RGD DNA:missense mutations, SNP:exon, intron:p.A6V, p.S147C, p.N40D (118A>G) (rs 1799971), IVS2+691G>C (human) PMID:9399694|REF_RGD_ID:401827934 9010004 Oprm1 opioid receptor mu 1 gene DOID:1574 alcohol use disorder treatment ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) PMID:32772383|REF_RGD_ID:401827947 9010004 Oprm1 opioid receptor mu 1 gene DOID:1742 drug psychosis ISO RGD:737513 D RGD:9068941 20231012 RGD associated with amphetamine abuse;DNA:SNP:intron:IVS2+691G>C (human) PMID:16402083|REF_RGD_ID:401827939 9010004 Oprm1 opioid receptor mu 1 gene DOID:1826 epilepsy ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2415332 9010004 Oprm1 opioid receptor mu 1 gene DOID:1883 hepatitis C ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12937158|PMID:17299060 9010004 Oprm1 opioid receptor mu 1 gene DOID:2030 anxiety disorder treatment ISO RGD:1551432 D RGD:9068941 20231007 RGD PMID:32014377|REF_RGD_ID:401827932 9010004 Oprm1 opioid receptor mu 1 gene DOID:2055 post-traumatic stress disorder severity ISO RGD:737513 D RGD:9068941 20231007 RGD DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) PMID:22143634|REF_RGD_ID:401827931 9010004 Oprm1 opioid receptor mu 1 gene DOID:2316 brain ischemia ISO RGD:3234 D RGD:9068941 20200609 RGD PMID:16176345|REF_RGD_ID:2316630 9010004 Oprm1 opioid receptor mu 1 gene DOID:2559 opiate dependence ISO RGD:737513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Opioid dependence, susceptibility to, 1 PMID:11134674|PMID:11773858|PMID:11773859|PMID:15037869|PMID:15086512|PMID:16046395|PMID:16387451|PMID:16682632|PMID:16906017|PMID:19528658|PMID:9193881|PMID:9689128 9010004 Oprm1 opioid receptor mu 1 gene DOID:2559 opiate dependence no_association ISO RGD:737513 D RGD:9068941 20231007 RGD DNA:SNP:exon:17C>T (rs 1799972) (human) PMID:18181266|REF_RGD_ID:401827929 9010004 Oprm1 opioid receptor mu 1 gene DOID:2559 opiate dependence no_association ISO RGD:737513 D RGD:9068941 20231007 RGD DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) PMID:12960749|REF_RGD_ID:401827933 9010004 Oprm1 opioid receptor mu 1 gene DOID:2559 opiate dependence susceptibility ISO RGD:737513 D RGD:9068941 20231207 RGD DNA:SNP: :rs9479757(human) PMID:24086514|REF_RGD_ID:401901242 9010004 Oprm1 opioid receptor mu 1 gene DOID:2559 opiate dependence treatment ISO RGD:1551432 D RGD:9068941 20231012 RGD PMID:19429175|REF_RGD_ID:401827945 9010004 Oprm1 opioid receptor mu 1 gene DOID:2559 opiate dependence treatment ISO RGD:737513 D RGD:9068941 20231007 RGD DNA:SNPs: :172G>T (rs6912029), 1510G>A (rs12205732) (human) PMID:23226066|REF_RGD_ID:401827937 9010004 Oprm1 opioid receptor mu 1 gene DOID:2559 opiate dependence treatment ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:SNP, haplotype:3' utr:rs10485058 (human) PMID:27958381|REF_RGD_ID:401831043 9010004 Oprm1 opioid receptor mu 1 gene DOID:2559 opiate dependence treatment ISO RGD:737513 D RGD:9068941 20231012 RGD associated with Chronic Pain;DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) PMID:29781244|REF_RGD_ID:401831042 9010004 Oprm1 opioid receptor mu 1 gene DOID:2560 morphine dependence ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3720824 9010004 Oprm1 opioid receptor mu 1 gene DOID:303 substance-related disorder ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 9010004 Oprm1 opioid receptor mu 1 gene DOID:480 movement disease ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20298714 9010004 Oprm1 opioid receptor mu 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:3234 D RGD:9068941 20200609 RGD mRNA:increased expression:macrophage PMID:17553897|REF_RGD_ID:2316609 9010004 Oprm1 opioid receptor mu 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) PMID:37659266|REF_RGD_ID:401827946 9010004 Oprm1 opioid receptor mu 1 gene DOID:630 genetic disease ISO RGD:737513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010004 Oprm1 opioid receptor mu 1 gene DOID:646 viral encephalitis ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 9010004 Oprm1 opioid receptor mu 1 gene DOID:670 amphetamine abuse ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402083 9010004 Oprm1 opioid receptor mu 1 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) PMID:31309790|REF_RGD_ID:401827955 9010004 Oprm1 opioid receptor mu 1 gene DOID:8646 substance-induced psychosis ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402083 9010004 Oprm1 opioid receptor mu 1 gene DOID:9000641 Pain ISO RGD:3234 D RGD:9068941 20200609 RGD PMID:12710986|REF_RGD_ID:2316589 9010004 Oprm1 opioid receptor mu 1 gene DOID:9001131 stress-related disorder ISO RGD:3234 D RGD:9068941 20240222 RGD mRNA:increased expression:dorsal striatum (rat) PMID:28511993|REF_RGD_ID:401976432 9010004 Oprm1 opioid receptor mu 1 gene DOID:9001581 Constipation ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 9010004 Oprm1 opioid receptor mu 1 gene DOID:9002211 Hyperalgesia ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17996026 9010004 Oprm1 opioid receptor mu 1 gene DOID:9002916 Hyperphagia ISO RGD:3234 D RGD:9068941 20231130 RGD PMID:21368037|PMID:9808678|REF_RGD_ID:401901088|REF_RGD_ID:9831410 9010004 Oprm1 opioid receptor mu 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3234 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hippocampus PMID:17360495|REF_RGD_ID:2316611 9010004 Oprm1 opioid receptor mu 1 gene DOID:9004086 AIDS Dementia Complex ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27400929 9010004 Oprm1 opioid receptor mu 1 gene DOID:9004751 Nausea ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 9010004 Oprm1 opioid receptor mu 1 gene DOID:9005372 Inflammation ISO RGD:3234 D RGD:9068941 20200609 RGD protein:increased internalization:spinal cord PMID:19298846|REF_RGD_ID:2316601 9010004 Oprm1 opioid receptor mu 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12815747|PMID:16893609|PMID:18762918 9010004 Oprm1 opioid receptor mu 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3234 D RGD:9068941 20200609 RGD PMID:16901587|REF_RGD_ID:2316626 9010004 Oprm1 opioid receptor mu 1 gene DOID:9005950 Orthostatic Hypotension ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2981652 9010004 Oprm1 opioid receptor mu 1 gene DOID:9005968 Neuralgia ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14718584|PMID:18400411 9010004 Oprm1 opioid receptor mu 1 gene DOID:9006202 Pruritus ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27192616 9010004 Oprm1 opioid receptor mu 1 gene DOID:9008675 Dyskinesias ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16435402 9010004 Oprm1 opioid receptor mu 1 gene DOID:9828 neonatal abstinence syndrome ameliorates ISO RGD:737513 D RGD:9068941 20240314 RGD associated with maternal opioid abuse;DNA:SNP:intron (rs1799971) (human) PMID:26233486|REF_RGD_ID:11079504 9010004 Oprm1 opioid receptor mu 1 gene DOID:9828 neonatal abstinence syndrome treatment ISO RGD:737513 D RGD:9068941 20240118 RGD DNA:SNP: 118A>G (rs1799971) (human) PMID:23632726|REF_RGD_ID:11097592 9010004 Oprm1 opioid receptor mu 1 gene DOID:9970 obesity ISO RGD:3234 D RGD:9068941 20231012 RGD DNA, mRNA:hypermethylation, increased expression:promoter, hypothalamus PMID:31258545|REF_RGD_ID:401827956 9010004 Oprm1 opioid receptor mu 1 gene DOID:9970 obesity ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:hypermethylation:promoter, peripheral blood mononuclear cell PMID:31258545|REF_RGD_ID:401827956 9010004 Oprm1 opioid receptor mu 1 gene DOID:9970 obesity treatment ISO RGD:3234 D RGD:9068941 20231019 RGD PMID:16876155|REF_RGD_ID:401842391 9010004 Oprm1 opioid receptor mu 1 gene DOID:9974 drug dependence ISO RGD:737513 D RGD:9068941 20240314 RGD DNA:SNP, haplotype:exon 1 (rs1799971) (human) PMID:33402148|REF_RGD_ID:402528879 9010004 Oprm1 opioid receptor mu 1 gene DOID:9975 cocaine dependence ISO RGD:737513 D RGD:9068941 20231012 RGD mRNA:increased expression:nucleus accumbens PMID:29992335|REF_RGD_ID:401831041 9010004 Oprm1 opioid receptor mu 1 gene DOID:9976 heroin dependence ISO RGD:737513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20201854 9010004 Oprm1 opioid receptor mu 1 gene DOID:9976 heroin dependence ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:SNP, haplotype: :rs483481 (human) PMID:32189578|REF_RGD_ID:401827950 9010004 Oprm1 opioid receptor mu 1 gene DOID:9976 heroin dependence ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) PMID:28976288|REF_RGD_ID:401831044 9010004 Oprm1 opioid receptor mu 1 gene DOID:9976 heroin dependence ISO RGD:737513 D RGD:9068941 20231012 RGD mRNA:splice variants:prefrontal cortex PMID:32506472|REF_RGD_ID:401831047 9010004 Oprm1 opioid receptor mu 1 gene DOID:9976 heroin dependence no_association ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:missense mutation:exon:p.N40D (118A>G) (rs 1799971) (human) PMID:11424981|REF_RGD_ID:401827953 9010004 Oprm1 opioid receptor mu 1 gene DOID:9976 heroin dependence severity ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:SNPs, haplotypes: :rs696522, rs1381376, rs3778151 (human) PMID:17157823|REF_RGD_ID:401827940 9010004 Oprm1 opioid receptor mu 1 gene DOID:9976 heroin dependence susceptibility ISO RGD:737513 D RGD:9068941 20231012 RGD DNA:SNPs, haplotypes: :multiple PMID:28692418|REF_RGD_ID:401831045 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0060017 CD3epsilon deficiency ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0080690 RASopathy ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0111123 nephronophthisis 15 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0111971 immunodeficiency 18 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0111972 immunodeficiency 19 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:0111973 immunodeficiency 17 ISO RGD:733505 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:1059 intellectual disability ISO RGD:733505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:6294 corpus callosum lipoma ISO RGD:733505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum lipoma PMID:25741868 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:630 genetic disease ISO RGD:733505 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:9000629 Preauricular Tag, Isolated, Autosomal Dominant, 1 ISO RGD:733505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preauricular skin tag PMID:25741868 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9010015 Pcsk7 proprotein convertase subtilisin/kexin type 7 gene DOID:9007661 Dwarfism ISO RGD:733505 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9010045 Gtf2e1 general transcription factor IIE subunit 1 gene DOID:630 genetic disease ISO RGD:1315703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010045 Gtf2e1 general transcription factor IIE subunit 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1315703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 9010045 Gtf2e1 general transcription factor IIE subunit 1 gene DOID:9270 alkaptonuria ISO RGD:1315703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9010059 Iqca1 IQ motif containing with AAA domain 1 gene DOID:1059 intellectual disability ISO RGD:1349054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9010059 Iqca1 IQ motif containing with AAA domain 1 gene DOID:630 genetic disease ISO RGD:1349054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010059 Iqca1 IQ motif containing with AAA domain 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1349054 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050589 inflammatory bowel disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18849144|REF_RGD_ID:5686819 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050700 cardiomyopathy ISO RGD:1552054 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:23723143|REF_RGD_ID:8695930 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050700 cardiomyopathy disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with inflammation; mRNA, protein:increased expression:heart, plasma PMID:21278397|REF_RGD_ID:5686895 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050700 cardiomyopathy treatment ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:23723143|REF_RGD_ID:8695930 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050830 peripheral artery disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16321391|REF_RGD_ID:5686716 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050847 sleep apnea ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19913847|REF_RGD_ID:5686853 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0050865 tongue squamous cell carcinoma disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:23181352|REF_RGD_ID:8694469 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0060180 colitis ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:21479819|REF_RGD_ID:5686898 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0060180 colitis ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:17604368|REF_RGD_ID:5686754 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0060575 3MC syndrome 1 ISO RGD:1351472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:28492532|PMID:29407414 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20415685 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15239085|REF_RGD_ID:5686660 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1552054 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:19606393|REF_RGD_ID:5686841 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:628748 D RGD:9068941 20200609 RGD associated with obesity;protein:decreased expression:serum: PMID:21255792|REF_RGD_ID:5686355 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:628748 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:22152320|REF_RGD_ID:5685373 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Obesity, Morbid; PMID:18713296|REF_RGD_ID:5686810 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNPs:5'utr, :-11377C>G, +45T>G (rs266729, rs2241766) (human) PMID:22269154|REF_RGD_ID:14401719 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;DNA:SNP:5' utr:-11377C>G (rs266729) (human) PMID:26042596|REF_RGD_ID:11076260 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:27860427|REF_RGD_ID:14401717 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:0081267 graft-versus-host disease severity ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21258011|REF_RGD_ID:5686893 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:10140 dry eye syndrome treatment ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:23211823|REF_RGD_ID:8694422 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:10652 Alzheimer's disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, plasma PMID:20727007|REF_RGD_ID:5686881 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:10652 Alzheimer's disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22213409|REF_RGD_ID:5686377 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1070 primary open angle glaucoma ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNP: :rs2241766 (human) PMID:22553514|REF_RGD_ID:8547563 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:10763 hypertension ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:11396 pulmonary edema ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25945502 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:11612 polycystic ovary syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:16868149|REF_RGD_ID:8694433 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1168 familial hyperlipidemia treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:24308182|REF_RGD_ID:8695929 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:11714 gestational diabetes ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15126557 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:11714 gestational diabetes ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19626510|REF_RGD_ID:2313236 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:11714 gestational diabetes treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:23608331|REF_RGD_ID:8695950 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:11832 visual epilepsy ISO RGD:1552054 D RGD:9068941 20200609 RGD associated with metabolic syndrome X; PMID:21976521|REF_RGD_ID:5686407 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1206 Rett syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:18710461|REF_RGD_ID:5686812 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:12361 Graves' disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with thyroid diseases; protein:increased expression:serum PMID:20583542|REF_RGD_ID:5686857 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:12361 Graves' disease severity ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18997483|REF_RGD_ID:5686818 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:12858 Huntington's disease ISO RGD:1552054 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19124532|REF_RGD_ID:5686822 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:17893004|REF_RGD_ID:5686800 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNPs: :-11365C>G, 276G>T (human) PMID:16644713|REF_RGD_ID:5686750 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16822679|REF_RGD_ID:5686752 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1287 cardiovascular system disease disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:22207678|REF_RGD_ID:5686379 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1307 dementia ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22213409|REF_RGD_ID:5686377 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:13207 proliferative diabetic retinopathy ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:aqueous humor PMID:22563689|REF_RGD_ID:8694466 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:13241 Behcet's disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21044750|REF_RGD_ID:8694430 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:13378 Kawasaki disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16982510|REF_RGD_ID:5686751 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:13608 biliary atresia ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21356120|REF_RGD_ID:5686894 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1580 diffuse scleroderma severity ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21615510|REF_RGD_ID:8694418 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:17192291|REF_RGD_ID:8694447 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1501299, rs2241766 (human) PMID:18451143|REF_RGD_ID:8694415 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:16019138|REF_RGD_ID:8694425 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1612 breast cancer no_association ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19723917|REF_RGD_ID:8694417 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:178 vascular disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17893004|REF_RGD_ID:5686800 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1936 atherosclerosis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18931039 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:1936 atherosclerosis treatment ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:12451000|REF_RGD_ID:8694473 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2018 hyperinsulinism ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16414018|REF_RGD_ID:1599145 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2048 autoimmune hepatitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19301087|REF_RGD_ID:5686833 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2377 multiple sclerosis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20714168|REF_RGD_ID:5686885 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2526 prostate adenocarcinoma susceptibility ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:5' utr, introns, exon:multiple PMID:21397927|REF_RGD_ID:8694410 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2755 Mycobacterium avium complex disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with pulmonary diseases; protein:increased expression:serum PMID:19641295|REF_RGD_ID:5686838 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2841 asthma ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19168697|REF_RGD_ID:5686821 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2957 pulmonary tuberculosis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22022605|REF_RGD_ID:5686405 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:2987 familial mediterranean fever ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20518740|REF_RGD_ID:5686880 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X;protein:decreased expression:serum PMID:21179920|REF_RGD_ID:5686825 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:22207678|REF_RGD_ID:5686379 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3312 bipolar disorder ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22137759|REF_RGD_ID:5686381 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3362 coronary aneurysm ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome;protein:increased expression:serum PMID:22683371|REF_RGD_ID:8694456 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3393 coronary artery disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:adipose tissue PMID:17878891|REF_RGD_ID:5686802 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3393 coronary artery disease susceptibility ISO RGD:1351472 D RGD:9068941 20230720 RGD associated with type 2 diabetes mellitus; DNA:SNP: (rs2241766) +45T>G(human) PMID:27218147|REF_RGD_ID:329956419 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3454 brain infarction ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:19362080|REF_RGD_ID:5686830 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:3770 pulmonary fibrosis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25945502 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:4195 hyperglycemia ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:29991592 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:4247 coronary restenosis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12138120 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:4450 renal cell carcinoma ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29723618 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:5082 liver cirrhosis severity ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115302|REF_RGD_ID:5686674 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:5844 myocardial infarction disease_progression ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:21326342|REF_RGD_ID:5686351 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:6000 congestive heart failure ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:19367012|PMID:26670611 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:6000 congestive heart failure ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with cardiovascular disease; protein:increased expression:plasma PMID:22032915|REF_RGD_ID:5686388 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:6000 congestive heart failure ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18192035|REF_RGD_ID:5686806 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:630 genetic disease ISO RGD:1351472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:6432 pulmonary hypertension ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19168697|REF_RGD_ID:5686821 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNP:intron:+276T>G (rs1501299) (human) PMID:23740135|REF_RGD_ID:14401720 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:7147 ankylosing spondylitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21122270|REF_RGD_ID:5686891 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:7148 rheumatoid arthritis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:7148 rheumatoid arthritis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21789720|REF_RGD_ID:5686424 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:783 end stage renal disease ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:783 end stage renal disease ISO RGD:628748 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:24028144|REF_RGD_ID:8695941 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:7998 hyperthyroidism ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:17161219|REF_RGD_ID:1599133 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:820 myocarditis ISO RGD:1552054 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart, plasma PMID:21278397|REF_RGD_ID:5686895 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:8577 ulcerative colitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16432373|REF_RGD_ID:5686726 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:8778 Crohn's disease ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:8778 Crohn's disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16432373|REF_RGD_ID:5686726 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:8947 diabetic retinopathy ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :g.45T>G (human) PMID:24655058|REF_RGD_ID:8694412 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:8947 diabetic retinopathy disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:17970779|REF_RGD_ID:8694475 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9000039 Spinal Cord Injuries ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16213239|REF_RGD_ID:5686719 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:22230897|REF_RGD_ID:8695949 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9000528 Coronary Disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes mellitus, Type2; PMID:22019747|REF_RGD_ID:5686406 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9000528 Coronary Disease disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:22207678|REF_RGD_ID:5686379 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9001044 Choroidal Neovascularization ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16689928|REF_RGD_ID:2289282 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:17466298|REF_RGD_ID:8694464 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:22633972|REF_RGD_ID:8695931 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14724832 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9001981 Weight Loss ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230824 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:23762489|REF_RGD_ID:8695935 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17942768 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs2241766 (human) PMID:23260797|REF_RGD_ID:8694443 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21945031|REF_RGD_ID:5686409 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:17970779|REF_RGD_ID:8694475 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1501299 (human) PMID:23260797|REF_RGD_ID:8694443 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:23533720|REF_RGD_ID:8695947 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:23674516|REF_RGD_ID:8695925 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002457 Experimental Arthritis ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326410 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002457 Experimental Arthritis ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19026984|REF_RGD_ID:5686814 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002457 Experimental Arthritis ISO RGD:628748 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21681567|REF_RGD_ID:5685385 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002775 Cognitive Dysfunction ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, plasma PMID:20727007|REF_RGD_ID:5686881 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19342600|REF_RGD_ID:7394795 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19725899|REF_RGD_ID:5686851 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004009 Reperfusion Injury ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease; PMID:18098300|REF_RGD_ID:5686804 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004017 Chronic Hepatitis C ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:26293833|REF_RGD_ID:14401718 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004484 Sepsis ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19481767|REF_RGD_ID:5686835 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004484 Sepsis ISO RGD:1552054 D RGD:9068941 20200609 RGD mRNA, protein:decreasedexpression:serum, omental fat pad: PMID:21962804|REF_RGD_ID:5686408 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004484 Sepsis ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16488436|REF_RGD_ID:1599144 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004610 Acute Lung Injury ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:22156343|REF_RGD_ID:5686380 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1552054 D RGD:9068941 20200609 RGD associated with Sepsis PMID:23522481|REF_RGD_ID:8695940 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with hypertension, overweight;protein:decreased expression:serum PMID:22053557|REF_RGD_ID:5686385 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004657 Weight Gain ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9004898 Jaundice ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Biliary Atresia; protein:increased expression:serum PMID:21356120|REF_RGD_ID:5686894 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9005233 Experimental Mammary Neoplasms disease_progression ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19447866|REF_RGD_ID:8694414 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:22246620|REF_RGD_ID:8694468 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9005372 Inflammation ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12860835 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552054 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:23174569|REF_RGD_ID:8694416 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628748 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:adipose tissue, serum PMID:16201273|REF_RGD_ID:1599146 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9005930 Endotoxemia ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Obesity PMID:23838384|REF_RGD_ID:8695926 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006191 Hypoadiponectinemia ISO RGD:1351472 D RGD:7240710 20180130 OMIM 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006191 Hypoadiponectinemia ISO RGD:1351472 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Adiponectin deficiency PMID:10918532|PMID:12878598|PMID:35869090 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006218 Masked Hypertension ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19222669|REF_RGD_ID:5686820 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:21412771|REF_RGD_ID:8695946 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006599 Hypertriglyceridemia ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with HIV Infections PMID:21595566|REF_RGD_ID:8694463 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793964|PMID:17618945|PMID:18162013|PMID:20833989 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :276G>T (human) PMID:19690575|REF_RGD_ID:2313234 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with vascular diseases; protein:decreased expression:plasma PMID:17893004|REF_RGD_ID:5686800 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:21625822|REF_RGD_ID:5686428 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006646 Metabolic Syndrome ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:21976521|REF_RGD_ID:5686407 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115302|REF_RGD_ID:5686674 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum PMID:24669271|REF_RGD_ID:8695938 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007096 Stroke ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20047566|REF_RGD_ID:5686856 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007096 Stroke ISO RGD:1552054 D RGD:9068941 20200609 RGD protein:increased expression:plasma,brain PMID:19699724|REF_RGD_ID:5686837 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007102 Myocardial Ischemia ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16155579 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007329 Human Viral Hepatitis ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115302|REF_RGD_ID:5686674 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20709802 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18931039|PMID:21484566 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16041833|REF_RGD_ID:1599150 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance treatment ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:21872431|REF_RGD_ID:8695928 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007692 Insulin Resistance treatment ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Hypertension PMID:23089228|REF_RGD_ID:8695951 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16155579 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9008212 Diabetic Foot ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:20836881|REF_RGD_ID:5686889 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:12876073|REF_RGD_ID:8694470 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9009039 Hyperemia ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9074 systemic lupus erythematosus ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19109165|REF_RGD_ID:5686827 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9120 amyloidosis ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Periodic fever, familial, autosomal dominant;protein:increased expression:serum PMID:22935190|REF_RGD_ID:8694455 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9351 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12860835 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12114044|PMID:12354786|PMID:15734870 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19622782|PMID:28843383|REF_RGD_ID:14975146|REF_RGD_ID:2313238 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD DNA:SNP: :g.45T>G (human) PMID:24655058|REF_RGD_ID:8694412 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with myocardial infarction;protein:decreased expression: : PMID:18472407|REF_RGD_ID:5686807 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16822679|REF_RGD_ID:5686752 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:19708766|REF_RGD_ID:2313230 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9352 type 2 diabetes mellitus ISO RGD:628748 D RGD:9068941 20200609 RGD protein:decreased expression:plasma, myocardium: PMID:21155820|REF_RGD_ID:5686359 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9452 steatotic liver disease ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with hepatitis C;protein:increased expression:serum PMID:20714777|REF_RGD_ID:5686883 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9452 steatotic liver disease ISO RGD:1351472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16115302|REF_RGD_ID:5686674 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9452 steatotic liver disease ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:17006986|REF_RGD_ID:1599139 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9675 pulmonary emphysema ISO RGD:1552054 D RGD:9068941 20200609 RGD PMID:20935231|REF_RGD_ID:5686887 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9744 type 1 diabetes mellitus ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19640330|REF_RGD_ID:2313235 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10092513|PMID:14617771 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 RGD PMID:19606374|PMID:28843383|REF_RGD_ID:14975146|REF_RGD_ID:2313239 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with Pulmonary Disease, Chronic Obstructive; protein:decreased expression:plasma PMID:18303100|REF_RGD_ID:5686809 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:1351472 D RGD:9068941 20200609 RGD associated with myocardial infarction; protein:decreased expression:plasma PMID:18651432|REF_RGD_ID:5686813 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity ISO RGD:628748 D RGD:9068941 20200609 RGD PMID:16092047|REF_RGD_ID:1599149 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9970 obesity treatment ISO RGD:628748 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:23731386|REF_RGD_ID:8695927 9010093 Adipoq adiponectin, C1Q and collagen domain containing gene DOID:9976 heroin dependence ISO RGD:1351472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:0050700 cardiomyopathy ISO RGD:61312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:heart myocardium, serum PMID:17982970|REF_RGD_ID:2290406 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:733906 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:14744773|REF_RGD_ID:2290436 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:10283 prostate cancer ISO RGD:733906 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, prostate gland PMID:17325663|REF_RGD_ID:2290397 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:733906 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18329693|REF_RGD_ID:2290389 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:10652 Alzheimer's disease ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:12614934|REF_RGD_ID:1580169 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:10762 portal hypertension ISO RGD:61312 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:17351970|REF_RGD_ID:2290408 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:10941 intracranial aneurysm ISO RGD:61312 D RGD:9068941 20200609 RGD mRNA:increased expression:blood vessel PMID:17569872|REF_RGD_ID:2290352 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:11054 urinary bladder cancer ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30548095 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:11054 urinary bladder cancer ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:17466450|REF_RGD_ID:2290395 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17374529|REF_RGD_ID:2298521 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:15616792|REF_RGD_ID:1580161 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:15056834|REF_RGD_ID:1580653 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:12858 Huntington's disease ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:12614934|REF_RGD_ID:1580169 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:13099 Moyamoya disease ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:16723886|REF_RGD_ID:1580650 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:14323 Marfan syndrome ISO RGD:733906 D RGD:9068941 20200609 RGD associated with thoracic aortic aneurysm;protein:increased expression:aorta (human) PMID:16820601|REF_RGD_ID:1582351 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:1532 pleural disease ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:182 calcinosis ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:2006 preretinal fibrosis ISO RGD:733906 D RGD:9068941 20200609 RGD PMID:11004090|REF_RGD_ID:2312481 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:2671 transitional cell carcinoma ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16901349|REF_RGD_ID:2290349 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:733906 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:17009991|REF_RGD_ID:2290360 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:3744 cervical squamous cell carcinoma ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:uterine cervix PMID:16619570|REF_RGD_ID:2290402 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:4450 renal cell carcinoma ISO RGD:733906 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:18035688|REF_RGD_ID:2290358 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:733906 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17572184|REF_RGD_ID:2290359 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:5844 myocardial infarction ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24358288 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:6000 congestive heart failure ISO RGD:61312 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle PMID:10773234|REF_RGD_ID:2290467 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:630 genetic disease ISO RGD:733906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733906 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:17505812|REF_RGD_ID:2290394 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9000998 Brain Injuries ISO RGD:61312 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, neuron, microglial cell PMID:10719361|REF_RGD_ID:2290468 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:61312 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:17491697|REF_RGD_ID:2290407 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9002498 Wallerian Degeneration ISO RGD:61312 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsal root ganglion PMID:16683235|REF_RGD_ID:1600154 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9004610 Acute Lung Injury severity ISO RGD:61312 D RGD:9068941 20200609 RGD PMID:10092827|REF_RGD_ID:9999422 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9005463 Occupational Diseases ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24142982 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21963884 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:17642161|REF_RGD_ID:2290392 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:733906 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17240786|REF_RGD_ID:2290398 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9212 pityriasis rubra pilaris ISO RGD:733906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 9010106 Timp2 TIMP metallopeptidase inhibitor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733906 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17020653|REF_RGD_ID:2312468 9010156 LOC102029877 tubulin alpha-1 chain gene DOID:11476 osteoporosis ISO RGD:1606486 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 9010156 LOC102029877 tubulin alpha-1 chain gene DOID:630 genetic disease ISO RGD:1606486 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010156 LOC102029877 tubulin alpha-1 chain gene DOID:9000217 Stomach Neoplasms ISO RGD:1606486 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 9010156 LOC102029877 tubulin alpha-1 chain gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1606486 D RGD:9068941 20230504 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 9010161 Sh3pxd2a SH3 and PX domains 2A gene DOID:0060224 atrial fibrillation ISO RGD:1322510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822 9010161 Sh3pxd2a SH3 and PX domains 2A gene DOID:630 genetic disease ISO RGD:1322510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010161 Sh3pxd2a SH3 and PX domains 2A gene DOID:9007096 Stroke ISO RGD:1322510 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 9010191 Igsf10 immunoglobulin superfamily member 10 gene DOID:0050579 glycogen storage disease XV ISO RGD:1352652 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 9010191 Igsf10 immunoglobulin superfamily member 10 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1352652 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:25741868 9010191 Igsf10 immunoglobulin superfamily member 10 gene DOID:5426 primary ovarian insufficiency ISO RGD:1352652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:28492532|PMID:31042289 9010191 Igsf10 immunoglobulin superfamily member 10 gene DOID:630 genetic disease ISO RGD:1352652 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9010237 Fn3krp fructosamine 3 kinase related protein gene DOID:630 genetic disease ISO RGD:1606224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010256 Nr2c2ap nuclear receptor 2C2 associated protein gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1606467 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 9010256 Nr2c2ap nuclear receptor 2C2 associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1606467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:25741868|PMID:28492532 9010256 Nr2c2ap nuclear receptor 2C2 associated protein gene DOID:630 genetic disease ISO RGD:1606467 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9010256 Nr2c2ap nuclear receptor 2C2 associated protein gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1606467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 9010263 Zc2hc1b zinc finger C2HC-type containing 1B gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1349089 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 9010263 Zc2hc1b zinc finger C2HC-type containing 1B gene DOID:630 genetic disease ISO RGD:1349089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010277 Atp13a4 ATPase 13A4 gene DOID:3529 congenital myopathy 1A ISO RGD:1346317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868 9010277 Atp13a4 ATPase 13A4 gene DOID:5419 schizophrenia ISO RGD:1346317 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9010277 Atp13a4 ATPase 13A4 gene DOID:630 genetic disease ISO RGD:1346317 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050458 juvenile myelomonocytic leukemia ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457647 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081860 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:28438623|REF_RGD_ID:126779596 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050860 colorectal adenoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD protein:increased expression:large intestine PMID:30214616|REF_RGD_ID:126779593 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNP: rs3757441 (human) PMID:21926398|REF_RGD_ID:126779594 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:24122997|REF_RGD_ID:126779588 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD associated with oral mucosa leukoplakia PMID:21697275|REF_RGD_ID:126781699 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs, haplotypes: :multiple PMID:26807327|REF_RGD_ID:126779606 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050873 follicular lymphoma ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24362818 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050908 myelodysplastic syndrome ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601954 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1312683 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:22869879|REF_RGD_ID:10450880 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0050908 myelodysplastic syndrome severity ISO RGD:1312683 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cell (human) PMID:21125401|REF_RGD_ID:10450887 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0060058 lymphoma ISO RGD:1312683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoma PMID:23023262|PMID:24563539|PMID:26619011 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1312683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-Hodgkin lymphoma PMID:23023262|PMID:24563539|PMID:26619011 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0070004 myeloid neoplasm ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:22233633|REF_RGD_ID:10450869 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080188 chronic myelomonocytic leukemia severity ISO RGD:1312683 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:21339759|REF_RGD_ID:10450882 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080199 colorectal carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD protein:increased expression:large intestine PMID:30214616|REF_RGD_ID:126779593 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1595860 D RGD:9068941 20200609 RGD PMID:24351808|REF_RGD_ID:9588320 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080600 COVID-19 ISO RGD:1312683 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0080798 myeloid leukemia associated with Down Syndrome ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056718 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1312683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:16571880|PMID:22872700|PMID:28492532 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10283 prostate cancer severity ISO RGD:1312683 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland (human) PMID:17134822|REF_RGD_ID:10755355 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10534 stomach cancer disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:16734726|REF_RGD_ID:126781698 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10534 stomach cancer susceptibility ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs: :multiple PMID:22228224|REF_RGD_ID:126779605 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:10534 stomach cancer treatment ISO RGD:1312683 D RGD:9068941 20200609 RGD PMID:25595591|REF_RGD_ID:14928319 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:11054 urinary bladder cancer ISO RGD:1312683 D RGD:9068941 20210416 RGD mRNA:increased expression:urinary bladder PMID:21539681|REF_RGD_ID:126781700 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:127 leiomyoma ISO RGD:1595860 D RGD:9068941 20200609 RGD PMID:22504913|REF_RGD_ID:9588321 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs, haplotype: :rs6950683, rs3757441 (human) PMID:19901851|REF_RGD_ID:126781717 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:14731 Weaver syndrome ISO RGD:1312683 D RGD:7240710 20180130 OMIM 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:14731 Weaver syndrome ISO RGD:1312683 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:22177091|PMID:22190405|PMID:23239504|PMID:23680131|PMID:24214728|PMID:24728327|PMID:25741868|PMID:26380986|PMID:26694085|PMID:28492532|PMID:29620724|PMID:29802153|PMID:30613354|PMID:31785789|PMID:32243864|PMID:4366187|PMID:9536098 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:1793 pancreatic cancer ISO RGD:1595860 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:22222375|REF_RGD_ID:9588324 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:219 colon cancer disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:19773751|REF_RGD_ID:126781702 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:2340 craniosynostosis ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26424790 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:289 endometriosis treatment ISO RGD:1595860 D RGD:9068941 20210416 RGD PMID:32651901|REF_RGD_ID:126781723 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3008 invasive ductal carcinoma ISO RGD:1312683 D RGD:9068941 20200609 RGD PMID:14532106|REF_RGD_ID:9588325 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3068 glioblastoma treatment ISO RGD:1312683 D RGD:9068941 20200609 RGD PMID:25595591|REF_RGD_ID:14928319 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3347 osteosarcoma ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3347 osteosarcoma ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:26265454|REF_RGD_ID:11532507 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:21165554|PMID:25613619|REF_RGD_ID:126781697|REF_RGD_ID:126781701 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:21539681|PMID:23300840|REF_RGD_ID:126781700|REF_RGD_ID:126781715 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:24097870|REF_RGD_ID:126781716 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNP: :g.148505302C>T (rs887569) (human) PMID:24179546|REF_RGD_ID:126779604 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4947 cholangiocarcinoma no_association ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human) PMID:24179546|REF_RGD_ID:126779604 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4971 myelofibrosis ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601953 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4971 myelofibrosis severity ISO RGD:1312683 D RGD:9068941 20200609 RGD DNA:mutations:exons, introns:multiple (human) PMID:21921040|REF_RGD_ID:10450870 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4972 myelodysplastic/myeloproliferative neoplasm ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601953 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:4972 myelodysplastic/myeloproliferative neoplasm ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:24218139|REF_RGD_ID:11038772 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:5176 renal Wilms' tumor ISO RGD:1312683 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:22431509|REF_RGD_ID:10755340 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:6000 congestive heart failure disease_progression ISO RGD:1312683 D RGD:9068941 20221027 RGD DNA:mutations: : PMID:33779075|REF_RGD_ID:155630627 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:630 genetic disease ISO RGD:1312683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:24211739|REF_RGD_ID:10755339 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:25226601|REF_RGD_ID:126779608 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:9068941 20210416 RGD mRNA:increased expression:liver PMID:26517514|REF_RGD_ID:11537550 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1312683 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560|PMID:34545456 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs: :multiple PMID:24040354|REF_RGD_ID:126779595 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:707 B-cell lymphoma ISO RGD:1312684 D RGD:9068941 20220825 MouseDO 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:707 B-cell lymphoma severity ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:23982173|REF_RGD_ID:10755356 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:707 B-cell lymphoma treatment ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:29456795|REF_RGD_ID:126781726 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:7474 malignant pleural mesothelioma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD mRNA, protein:increased expression:pleura PMID:22028491|REF_RGD_ID:126781718 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:7693 abdominal aortic aneurysm ISO RGD:1312683 D RGD:9068941 20231214 RGD mRNA:decreased expression:aorta (human) PMID:31028191|REF_RGD_ID:401938604 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:8552 chronic myeloid leukemia ISO RGD:1312683 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow mononuclear cells (human) PMID:27070757|REF_RGD_ID:13782088 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1312683 D RGD:9068941 20200609 RGD associated with Down Syndrome;DNA:mutations:multiple (human) PMID:24056718|REF_RGD_ID:10450890 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:8923 skin melanoma ISO RGD:1312683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:23023262|PMID:24563539|PMID:26619011 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000099 Experimental Colitis treatment ISO RGD:1312684 D RGD:9068941 20210416 RGD PMID:31160593|REF_RGD_ID:126779602 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312683 D RGD:9068941 20210416 RGD associated with lung non-small cell carcinoma PMID:24097870|REF_RGD_ID:126781716 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312683 D RGD:9068941 20210416 RGD associated with osteosarcoma PMID:26265454|REF_RGD_ID:11532507 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1312683 D RGD:9068941 20210416 RGD associated with stomach cancer;protein:increased expression:stomach PMID:20132185|REF_RGD_ID:126779607 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17003774|PMID:17173048|PMID:21903722 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9002762 Ovarian Neoplasms ISO RGD:1312683 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35442568 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004203 Chromosome Breakage ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004283 Transplant Rejection treatment ISO RGD:1595860 D RGD:9068941 20210416 RGD PMID:27784285|REF_RGD_ID:126781722 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004402 Congenital Upper Extremity Deformities ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26424790 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1595860 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart PMID:23727574|REF_RGD_ID:9588322 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9004657 Weight Gain ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30971429 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1595860 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:23508046|REF_RGD_ID:9587808 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9006014 Peritoneal Adhesions ISO RGD:1595860 D RGD:9068941 20210416 RGD protein:increased expression:peritoneum PMID:27690696|REF_RGD_ID:126781724 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1312684 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312683 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29391238 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9007715 Endometrial Neoplasms ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21903722 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9008939 Breast Neoplasms ISO RGD:1312683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21903722 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1312683 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cell (human) PMID:21125401|REF_RGD_ID:10450887 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1312684 D RGD:9068941 20200609 RGD PMID:22677129|REF_RGD_ID:10450874 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1312683 D RGD:9068941 20200609 RGD DNA:mutations:cds:multiple (human) PMID:23099237|REF_RGD_ID:10450876 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:21539681|REF_RGD_ID:126781700 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD PMID:26871294|REF_RGD_ID:126779590 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNP: :rs3757441 (human) PMID:21926398|REF_RGD_ID:126779594 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9256 colorectal cancer no_association ISO RGD:1312683 D RGD:9068941 20210416 RGD DNA:SNPs: :rs2302427, rs41277434, rs6958683 (human) PMID:21926398|REF_RGD_ID:126779594 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1312683 D RGD:9068941 20210416 RGD mRNA, protein:increased expression:ventral nasal meatus PMID:21300475|REF_RGD_ID:126779603 9010311 Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1312684 D RGD:9068941 20220825 MouseDO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 9010354 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316586 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9010354 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:2773 contact dermatitis ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9010354 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:2841 asthma ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21150878 9010354 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:289 endometriosis ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 9010354 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:303 substance-related disorder ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9010354 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:5082 liver cirrhosis ISO RGD:1316586 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33069761 9010354 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:630 genetic disease ISO RGD:1316586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010354 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:684 hepatocellular carcinoma ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9010354 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9010354 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:9005172 Lung Neoplasms ISO RGD:1316586 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20562917 9010354 Cxcl14 C-X-C motif chemokine ligand 14 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316586 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9010363 Decr1 2,4-dienoyl-CoA reductase 1 gene DOID:3146 lipid metabolism disorder ISO RGD:733605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2332510 9010363 Decr1 2,4-dienoyl-CoA reductase 1 gene DOID:630 genetic disease ISO RGD:733605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010363 Decr1 2,4-dienoyl-CoA reductase 1 gene DOID:7400 Nijmegen breakage syndrome ISO RGD:733605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:28492532 9010363 Decr1 2,4-dienoyl-CoA reductase 1 gene DOID:9005948 2,4-Dienoyl-CoA Reductase Deficiency ISO RGD:733605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 2,4-Dienoyl-CoA reductase deficiency PMID:25741868|PMID:28492532 9010386 Capn5 calpain 5 gene DOID:0050578 occult macular dystrophy ISO RGD:731758 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Occult macular dystrophy PMID:25741868 9010386 Capn5 calpain 5 gene DOID:1059 intellectual disability ISO RGD:731758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9010386 Capn5 calpain 5 gene DOID:630 genetic disease ISO RGD:731758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125 9010386 Capn5 calpain 5 gene DOID:8501 fundus dystrophy ISO RGD:731758 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 9010386 Capn5 calpain 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:731758 D RGD:7240710 20200115 OMIM 9010386 Capn5 calpain 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:731758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Proliferative vitreoretinopathy PMID:2234842|PMID:23055945|PMID:24381307|PMID:25741868|PMID:25994508|PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125 9010408 Mettl21a methyltransferase 21A, HSPA lysine gene DOID:14557 primary pulmonary hypertension ISO RGD:1602980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 9010408 Mettl21a methyltransferase 21A, HSPA lysine gene DOID:630 genetic disease ISO RGD:1602980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010408 Mettl21a methyltransferase 21A, HSPA lysine gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1347209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:0050773 paraganglioma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland, chromaffin cell (human) PMID:31964418|REF_RGD_ID:153344516 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:0050865 tongue squamous cell carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD protein:increased expression:tongue (human) PMID:18621506|REF_RGD_ID:153323319 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:1347209 D RGD:9068941 20220721 RGD protein:increased expression:oral cavity (human) PMID:20967871|REF_RGD_ID:152999012 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:1059 intellectual disability ISO RGD:1347209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:1240 leukemia ISO RGD:1347209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1347209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:1612 breast cancer ISO RGD:1347209 D RGD:9068941 20200609 RGD PMID:12218061|REF_RGD_ID:1643528 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:1996 rectum adenocarcinoma disease_progression ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:rectum (human) PMID:31964418|REF_RGD_ID:153344516 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:3275 thymoma ameliorates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:thymus (human) PMID:31964418|REF_RGD_ID:153344516 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:1347209 D RGD:9068941 20200609 RGD DNA, protein:amplification, increased expression:uterine cervix, nucleus PMID:12208731|REF_RGD_ID:1643529 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220714 RGD protein:increased expression:lung (human) PMID:27737687|REF_RGD_ID:152998985 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:3948 adrenocortical carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:4074 pancreatic adenocarcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:4362 cervical cancer ISO RGD:1347209 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:16504151|REF_RGD_ID:1643527 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1347209 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney PMID:17154176|REF_RGD_ID:1643526 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1347209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:5520 head and neck squamous cell carcinoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:head or neck skin (human) PMID:31964418|REF_RGD_ID:153344516 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:630 genetic disease ISO RGD:1347209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:769 neuroblastoma ISO RGD:1347209 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:8923 skin melanoma exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:zone of skin (human) PMID:31964418|REF_RGD_ID:153344516 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14647439 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:9000918 Disease Progression ISO RGD:1347209 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:9002846 bowenoid papulosis ISO RGD:1347209 D RGD:9068941 20220714 RGD mRNA:increased expression:perianal skin (human) PMID:20346172|REF_RGD_ID:152998971 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:1347209 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1347209 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 9010415 Birc2 baculoviral IAP repeat containing 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1347209 D RGD:9068941 20220825 RGD mRNA:decreased expression:colonic mucosa (human) PMID:27827395|REF_RGD_ID:153344527 9010435 Znf777 zinc finger protein 777 gene DOID:630 genetic disease ISO RGD:1604021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010445 Tlr5 toll like receptor 5 gene DOID:10457 Legionnaires' disease ISO RGD:1348706 D RGD:7240710 20240313 OMIM 9010445 Tlr5 toll like receptor 5 gene DOID:10457 Legionnaires' disease ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Legionnaire disease, susceptibility to PMID:14623910|PMID:16027372|PMID:23447684 9010445 Tlr5 toll like receptor 5 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1331979 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (mouse) PMID:12763043|REF_RGD_ID:5129557 9010445 Tlr5 toll like receptor 5 gene DOID:1485 cystic fibrosis ISO RGD:1348706 D RGD:9068941 20200609 RGD protein:increased expression:lung, sputum, neutrophil (human) PMID:18684966|REF_RGD_ID:5129506 9010445 Tlr5 toll like receptor 5 gene DOID:1485 cystic fibrosis resistance ISO RGD:1348706 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1174C>T rs5744168 (human) PMID:21068401|REF_RGD_ID:5129499 9010445 Tlr5 toll like receptor 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9010445 Tlr5 toll like receptor 5 gene DOID:1679 cystitis severity ISO RGD:1348706 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds:p.R392X (human) PMID:19543401|REF_RGD_ID:7246906 9010445 Tlr5 toll like receptor 5 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1331979 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 9010445 Tlr5 toll like receptor 5 gene DOID:3265 chronic granulomatous disease ISO RGD:1348706 D RGD:9068941 20200609 RGD protein:decreased expression:blood, neutrophil (human) PMID:18155283|REF_RGD_ID:5130865 9010445 Tlr5 toll like receptor 5 gene DOID:5052 melioidosis ISO RGD:1348706 D RGD:7240710 20240313 OMIM 9010445 Tlr5 toll like receptor 5 gene DOID:5052 melioidosis ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Melioidosis, resistance to PMID:14623910|PMID:16027372|PMID:23447684 9010445 Tlr5 toll like receptor 5 gene DOID:630 genetic disease ISO RGD:1348706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010445 Tlr5 toll like receptor 5 gene DOID:7147 ankylosing spondylitis ISO RGD:1348706 D RGD:9068941 20200609 RGD mRNA:increased expression:blood cell: PMID:20952467|REF_RGD_ID:7794744 9010445 Tlr5 toll like receptor 5 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:631351 D RGD:9068941 20200609 RGD mRNA:decreased expression:ileum (rat) PMID:19608731|REF_RGD_ID:5128779 9010445 Tlr5 toll like receptor 5 gene DOID:874 bacterial pneumonia ISO RGD:1331979 D RGD:9068941 20200609 RGD PMID:19801452|REF_RGD_ID:5129503 9010445 Tlr5 toll like receptor 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1348706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16284379 9010445 Tlr5 toll like receptor 5 gene DOID:9003321 Bacterial Keratitis ISO RGD:1331979 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 9010445 Tlr5 toll like receptor 5 gene DOID:9005099 Salmonella Infections, Animal ISO RGD:631351 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:jejunum, colon (rat) PMID:20529359|REF_RGD_ID:5129497 9010445 Tlr5 toll like receptor 5 gene DOID:9005873 Tongue Neoplasms ISO RGD:1348706 D RGD:9068941 20200609 RGD protein:increased expression:tongue: PMID:23287987|REF_RGD_ID:7814374 9010445 Tlr5 toll like receptor 5 gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:1348706 D RGD:9068941 20200609 RGD DNA:snp:cds:p.F616L rs5744174 (human) PMID:19258923|REF_RGD_ID:4142862 9010445 Tlr5 toll like receptor 5 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30508503 9010445 Tlr5 toll like receptor 5 gene DOID:9007417 Pseudomonas Infections ISO RGD:1331979 D RGD:9068941 20200609 RGD PMID:20566829|REF_RGD_ID:5129679 9010445 Tlr5 toll like receptor 5 gene DOID:9008972 Hyperammonemia ISO RGD:1348706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30508503 9010445 Tlr5 toll like receptor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348706 D RGD:7240710 20240313 OMIM 9010445 Tlr5 toll like receptor 5 gene DOID:9074 systemic lupus erythematosus ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, resistance to, 1 PMID:14623910|PMID:16027372|PMID:23447684 9010445 Tlr5 toll like receptor 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9010466 Afap1 actin filament associated protein 1 gene DOID:1067 open-angle glaucoma susceptibility ISO RGD:1605642 D RGD:9068941 20200609 RGD DNA:SNPs: :rs4619890,rs4478172(human) PMID:25173105|REF_RGD_ID:13673886 9010466 Afap1 actin filament associated protein 1 gene DOID:630 genetic disease ISO RGD:1605642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010490 Smim5 small integral membrane protein 5 gene DOID:630 genetic disease ISO RGD:5132337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010515 Fcrl5 Fc receptor like 5 gene DOID:0080600 COVID-19 ISO RGD:1606497 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9010515 Fcrl5 Fc receptor like 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1606497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9010515 Fcrl5 Fc receptor like 5 gene DOID:630 genetic disease ISO RGD:1606497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010515 Fcrl5 Fc receptor like 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9010540 Trim16 tripartite motif containing 16 gene DOID:630 genetic disease ISO RGD:1348776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010540 Trim16 tripartite motif containing 16 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1348776 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35442568 9010550 Cfap107 cilia and flagella associated protein 107 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1602191 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:25741868 9010550 Cfap107 cilia and flagella associated protein 107 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602191 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9010605 Atp4a ATPase H+/K+ transporting subunit alpha gene DOID:0110222 Brugada syndrome 5 ISO RGD:734000 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 9010605 Atp4a ATPase H+/K+ transporting subunit alpha gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:734000 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9010605 Atp4a ATPase H+/K+ transporting subunit alpha gene DOID:10534 stomach cancer severity ISO RGD:734000 D RGD:9068941 20231109 RGD mRNA:increased expression:stomach (human) PMID:33470887|REF_RGD_ID:401854251 9010605 Atp4a ATPase H+/K+ transporting subunit alpha gene DOID:543 dystonia ISO RGD:734000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 9010605 Atp4a ATPase H+/K+ transporting subunit alpha gene DOID:630 genetic disease ISO RGD:734000 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33525650 9010634 Swi5 SWI5 homologous recombination repair protein gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1350090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9010634 Swi5 SWI5 homologous recombination repair protein gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1350090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9010634 Swi5 SWI5 homologous recombination repair protein gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1350090 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9010634 Swi5 SWI5 homologous recombination repair protein gene DOID:630 genetic disease ISO RGD:1350090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010642 Ppp1r15b protein phosphatase 1 regulatory subunit 15B gene DOID:0080600 COVID-19 ISO RGD:1317432 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 9010642 Ppp1r15b protein phosphatase 1 regulatory subunit 15B gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1317432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9010642 Ppp1r15b protein phosphatase 1 regulatory subunit 15B gene DOID:12849 autistic disorder ISO RGD:1317432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9010642 Ppp1r15b protein phosphatase 1 regulatory subunit 15B gene DOID:1540 parathyroid carcinoma ISO RGD:1317432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9010642 Ppp1r15b protein phosphatase 1 regulatory subunit 15B gene DOID:630 genetic disease ISO RGD:1317432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9010642 Ppp1r15b protein phosphatase 1 regulatory subunit 15B gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1317432 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9010642 Ppp1r15b protein phosphatase 1 regulatory subunit 15B gene DOID:9006272 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 ISO RGD:1317432 D RGD:7240710 20190315 OMIM 9010642 Ppp1r15b protein phosphatase 1 regulatory subunit 15B gene DOID:9006272 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 ISO RGD:1317432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 PMID:25741868|PMID:26159176|PMID:26307080|PMID:28492532 9010642 Ppp1r15b protein phosphatase 1 regulatory subunit 15B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9010650 Mterf1 mitochondrial transcription termination factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9010650 Mterf1 mitochondrial transcription termination factor 1 gene DOID:630 genetic disease ISO RGD:736231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010659 Fam219a family with sequence similarity 219 member A gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9010659 Fam219a family with sequence similarity 219 member A gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1350147 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9010659 Fam219a family with sequence similarity 219 member A gene DOID:0080942 anauxetic dysplasia ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 9010659 Fam219a family with sequence similarity 219 member A gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9010659 Fam219a family with sequence similarity 219 member A gene DOID:630 genetic disease ISO RGD:1350147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010659 Fam219a family with sequence similarity 219 member A gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350147 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9010659 Fam219a family with sequence similarity 219 member A gene DOID:9870 galactosemia ISO RGD:1350147 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9010710 Churc1 churchill domain containing 1 gene DOID:630 genetic disease ISO RGD:1312958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010718 C1qtnf1 C1q and TNF related 1 gene DOID:630 genetic disease ISO RGD:1350694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010718 C1qtnf1 C1q and TNF related 1 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1350694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 9010735 Apoc1 apolipoprotein C1 gene DOID:10652 Alzheimer's disease ISO RGD:735472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29107063|PMID:30319691 9010735 Apoc1 apolipoprotein C1 gene DOID:10652 Alzheimer's disease ISO RGD:735472 D RGD:9068941 20200609 RGD PMID:11825674|REF_RGD_ID:1578472 9010735 Apoc1 apolipoprotein C1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735472 D RGD:9068941 20200609 RGD PMID:15876873|REF_RGD_ID:2325793 9010735 Apoc1 apolipoprotein C1 gene DOID:3717 gastric adenocarcinoma ISO RGD:735472 D RGD:9068941 20220901 RGD protein:decreased expression:serum PMID:21267442|REF_RGD_ID:153344621 9010735 Apoc1 apolipoprotein C1 gene DOID:6000 congestive heart failure ISO RGD:735472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 9010735 Apoc1 apolipoprotein C1 gene DOID:630 genetic disease ISO RGD:735472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010735 Apoc1 apolipoprotein C1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735472 D RGD:9068941 20220908 RGD associated with hepatitis B; PMID:31211449|REF_RGD_ID:153350082 9010735 Apoc1 apolipoprotein C1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:very-low-density lipoprotein particle PMID:12753304|REF_RGD_ID:2313950 9010735 Apoc1 apolipoprotein C1 gene DOID:9006599 Hypertriglyceridemia ISO RGD:735472 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:3757210|REF_RGD_ID:2313953 9010735 Apoc1 apolipoprotein C1 gene DOID:9007692 Insulin Resistance ISO RGD:735472 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:11723061|REF_RGD_ID:2313951 9010735 Apoc1 apolipoprotein C1 gene DOID:9008023 Memory Disorders ISO RGD:735472 D RGD:9068941 20200609 RGD PMID:11714102|REF_RGD_ID:1578426 9010735 Apoc1 apolipoprotein C1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735472 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:3757210|REF_RGD_ID:2313953 9010735 Apoc1 apolipoprotein C1 gene DOID:9970 obesity ISO RGD:735472 D RGD:9068941 20200609 RGD PMID:11723061|REF_RGD_ID:2313951 9010740 Odc1 ornithine decarboxylase 1 gene DOID:2615 papilloma ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17928125 9010740 Odc1 ornithine decarboxylase 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 9010740 Odc1 ornithine decarboxylase 1 gene DOID:630 genetic disease ISO RGD:731324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010740 Odc1 ornithine decarboxylase 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12810952 9010740 Odc1 ornithine decarboxylase 1 gene DOID:9003013 Neurodevelopmental Disorder with Alopecia and Brain Abnormalities ISO RGD:731324 D RGD:7240710 20201111 OMIM 9010740 Odc1 ornithine decarboxylase 1 gene DOID:9003013 Neurodevelopmental Disorder with Alopecia and Brain Abnormalities ISO RGD:731324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with alopecia and brain abnormalities PMID:25741868|PMID:30239107 9010740 Odc1 ornithine decarboxylase 1 gene DOID:9004464 Skin Neoplasms ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2591024|PMID:7653998 9010740 Odc1 ornithine decarboxylase 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21930798 9010756 Ring1 ring finger protein 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353088 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9010756 Ring1 ring finger protein 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353088 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 9010756 Ring1 ring finger protein 1 gene DOID:630 genetic disease ISO RGD:1353088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010803 Gckr glucokinase regulator gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:69130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:28492532 9010803 Gckr glucokinase regulator gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9010803 Gckr glucokinase regulator gene DOID:630 genetic disease ISO RGD:69130 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28106320|PMID:28492532 9010803 Gckr glucokinase regulator gene DOID:783 end stage renal disease ISO RGD:69130 D RGD:9068941 20200609 RGD DNA: snp: rs1260326 PMID:21980298|REF_RGD_ID:7242279 9010803 Gckr glucokinase regulator gene DOID:9006599 Hypertriglyceridemia ISO RGD:69130 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:22182842|PMID:25741868|PMID:28492532 9010803 Gckr glucokinase regulator gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:69130 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes: (rs780094) (human) PMID:27599772|REF_RGD_ID:401794577 9010803 Gckr glucokinase regulator gene DOID:9006646 Metabolic Syndrome ISO RGD:69130 D RGD:9068941 20200609 RGD PMID:19861489|REF_RGD_ID:7242423 9010803 Gckr glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20081858 9010803 Gckr glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 RGD PMID:11473043|PMID:21411509|REF_RGD_ID:2315986|REF_RGD_ID:7242280 9010803 Gckr glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 RGD DNA:SNP::rs1260326(human) PMID:18556336|REF_RGD_ID:2315985 9010803 Gckr glucokinase regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:69130 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs780094 (human) PMID:19241058|REF_RGD_ID:2315983 9010803 Gckr glucokinase regulator gene DOID:9970 obesity no_association ISO RGD:69130 D RGD:9068941 20200609 RGD DNA:mutations:CDS:no association with mutations P446L, R590Y, R227X or R518Q in obese French patients despite localization of gene within a QTL for obesity-related phenotypes PMID:12739015|REF_RGD_ID:1626607 9010824 Fbln2 fibulin 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1345931 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 9010824 Fbln2 fibulin 2 gene DOID:630 genetic disease ISO RGD:1345931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010824 Fbln2 fibulin 2 gene DOID:9004657 Weight Gain ISO RGD:1345931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 9010824 Fbln2 fibulin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345931 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 9010852 Fgfr1op2 FGFR1 oncogene partner 2 gene DOID:0070004 myeloid neoplasm ISO RGD:1348205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22875613 9010852 Fgfr1op2 FGFR1 oncogene partner 2 gene DOID:630 genetic disease ISO RGD:1348205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010883 Tspyl5 TSPY like 5 gene DOID:630 genetic disease ISO RGD:1322624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010891 Wdr75 WD repeat domain 75 gene DOID:0111944 immunodeficiency 31B ISO RGD:1604581 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 9010891 Wdr75 WD repeat domain 75 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1604581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:20648054|PMID:23587214|PMID:28492532 9010891 Wdr75 WD repeat domain 75 gene DOID:630 genetic disease ISO RGD:1604581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010891 Wdr75 WD repeat domain 75 gene DOID:9001287 Ehlers-Danlos Syndrome Type 4 ISO RGD:1604581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:20648054|PMID:23587214|PMID:28492532 9010891 Wdr75 WD repeat domain 75 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9010916 Polb DNA polymerase beta gene DOID:0090039 torsion dystonia 6 ISO RGD:736608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 9010916 Polb DNA polymerase beta gene DOID:0111959 immunodeficiency 15B ISO RGD:736608 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 9010916 Polb DNA polymerase beta gene DOID:11054 urinary bladder cancer ISO RGD:736608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8631603 9010916 Polb DNA polymerase beta gene DOID:1793 pancreatic cancer disease_progression ISO RGD:736608 D RGD:9068941 20200609 RGD DNA:polymorphisms: :165A>G, 2133T>C (human) PMID:17230526|REF_RGD_ID:2317132 9010916 Polb DNA polymerase beta gene DOID:630 genetic disease ISO RGD:736608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010916 Polb DNA polymerase beta gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:736608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 9010916 Polb DNA polymerase beta gene DOID:9002928 Colonic Neoplasms ISO RGD:736608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25030372 9010916 Polb DNA polymerase beta gene DOID:9004009 Reperfusion Injury ISO RGD:3363 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17412650|REF_RGD_ID:2302580 9010916 Polb DNA polymerase beta gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:736608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 9010916 Polb DNA polymerase beta gene DOID:9074 systemic lupus erythematosus ISO RGD:736609 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 9010965 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1322814 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 9010965 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:0070034 autosomal dominant intellectual developmental disorder 4 ISO RGD:1322814 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 4 PMID:19012874|PMID:25741868 9010965 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 9010965 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:1059 intellectual disability ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9010965 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:5419 schizophrenia ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9010965 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:630 genetic disease ISO RGD:1322814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213 9010965 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9010965 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:9007661 Dwarfism ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9010965 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9010965 Kirrel3 kirre like nephrin family adhesion molecule 3 gene DOID:9008582 Developmental Disease ISO RGD:1322814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9010991 Srr serine racemase gene DOID:3910 lung adenocarcinoma ISO RGD:1352406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9010991 Srr serine racemase gene DOID:5419 schizophrenia ISO RGD:1550738 D RGD:9068941 20220825 MouseDO OMIM:181500 9010991 Srr serine racemase gene DOID:630 genetic disease ISO RGD:1352406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9010991 Srr serine racemase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9010991 Srr serine racemase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9010991 Srr serine racemase gene DOID:9006205 Animal Disease Models ISO RGD:1352406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9011007 Nubpl NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1343672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:20818383|PMID:21681106|PMID:22072591|PMID:23553477|PMID:23828044|PMID:24033266|PMID:24088041|PMID:25245479|PMID:25356970|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29982452|PMID:30897263|PMID:31787496|PMID:32518176 9011007 Nubpl NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1343672 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29982452 9011007 Nubpl NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1343672 D RGD:7240710 20190315 OMIM 9011007 Nubpl NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:0112088 nuclear type mitochondrial complex I deficiency 21 ISO RGD:1343672 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | ClinVar Annotator: match by term: NUBPL-related condition PMID:16199547|PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:24033266|PMID:24088041|PMID:25245479|PMID:25356970|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29417091|PMID:29982452|PMID:30897263|PMID:31787496|PMID:31917109|PMID:32518176 9011007 Nubpl NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1343672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20818383|PMID:22072591|PMID:23553477|PMID:23828044|PMID:24088041|PMID:25245479|PMID:25356970|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29982452|PMID:30897263|PMID:31787496|PMID:32518176|PMID:9536098 9011007 Nubpl NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:700 mitochondrial metabolism disease ISO RGD:1343672 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20818383 9011007 Nubpl NUBP iron-sulfur cluster assembly factor, mitochondrial gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1343672 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9011052 Fbxo9 F-box protein 9 gene DOID:630 genetic disease ISO RGD:1321245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011052 Fbxo9 F-box protein 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1321245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9011073 Gramd4 GRAM domain containing 4 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9011073 Gramd4 GRAM domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1604385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9011073 Gramd4 GRAM domain containing 4 gene DOID:630 genetic disease ISO RGD:1604385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011118 Gli3 GLI family zinc finger 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:620272 D RGD:9068941 20211105 RGD PMID:30537251|REF_RGD_ID:150520178 9011118 Gli3 GLI family zinc finger 3 gene DOID:0070067 White-Sutton syndrome ISO RGD:1314553 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:25741868 9011118 Gli3 GLI family zinc finger 3 gene DOID:0080074 neural tube defect ISO RGD:1314553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16359493 9011118 Gli3 GLI family zinc finger 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1314553 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:19829694|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9302279 9011118 Gli3 GLI family zinc finger 3 gene DOID:10892 hypospadias ISO RGD:620272 D RGD:9068941 20200609 RGD mRNA:decreased expression:male genital tubercle PMID:27079746|REF_RGD_ID:12743602 9011118 Gli3 GLI family zinc finger 3 gene DOID:11193 syndactyly ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: polysyndactyly 9011118 Gli3 GLI family zinc finger 3 gene DOID:1148 polydactyly ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperdactyly | ClinVar Annotator: match by term: Polydactylism | ClinVar Annotator: match by term: Polydactyly PMID:10441570|PMID:25741868|PMID:28492532 9011118 Gli3 GLI family zinc finger 3 gene DOID:11836 clubfoot ISO RGD:620272 D RGD:9068941 20200609 RGD PMID:19925654|REF_RGD_ID:12738235 9011118 Gli3 GLI family zinc finger 3 gene DOID:13714 anodontia ISO RGD:1314553 D RGD:9068941 20200609 RGD DNA:SNP: :rs929387 (human) PMID:22984994|REF_RGD_ID:12738234 9011118 Gli3 GLI family zinc finger 3 gene DOID:14679 VACTERL association ISO RGD:1314554 D RGD:9068941 20230105 RGD PMID:11172440|REF_RGD_ID:155791680 9011118 Gli3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:7240710 20180130 OMIM 9011118 Gli3 GLI family zinc finger 3 gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:1314553 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape PMID:10441342|PMID:10441570|PMID:10678662|PMID:12414818|PMID:12794692|PMID:15739154|PMID:15811011|PMID:16199547|PMID:16740916|PMID:17576681|PMID:18000979|PMID:18435847|PMID:1879832|PMID:19829694|PMID:20583172|PMID:20672375|PMID:22903559|PMID:24736735|PMID:25606469|PMID:25640679|PMID:25741868|PMID:26508445|PMID:27231705|PMID:28127823|PMID:28166811|PMID:28224613|PMID:28492532|PMID:29236091|PMID:30235038|PMID:30773290|PMID:30993914|PMID:31399769|PMID:32591344|PMID:33304378|PMID:34482537|PMID:34906502|PMID:6641002|PMID:9302279|PMID:9536098 9011118 Gli3 GLI family zinc finger 3 gene DOID:1923 disorder of sexual development ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 9011118 Gli3 GLI family zinc finger 3 gene DOID:3263 piebaldism ISO RGD:1314554 D RGD:9068941 20200609 RGD PMID:18397875|REF_RGD_ID:12738207 9011118 Gli3 GLI family zinc finger 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia 9011118 Gli3 GLI family zinc finger 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9011118 Gli3 GLI family zinc finger 3 gene DOID:5082 liver cirrhosis ISO RGD:1314553 D RGD:9068941 20230105 RGD mRNA:increased expression:serum: PMID:32319630|REF_RGD_ID:155791681 9011118 Gli3 GLI family zinc finger 3 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cronkhite-Canada syndrome 9011118 Gli3 GLI family zinc finger 3 gene DOID:630 genetic disease ISO RGD:1314553 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15739154|PMID:25741868|PMID:28492532|PMID:34482537 9011118 Gli3 GLI family zinc finger 3 gene DOID:674 cleft palate ISO RGD:1314554 D RGD:9068941 20200609 RGD PMID:18816854|REF_RGD_ID:12738224 9011118 Gli3 GLI family zinc finger 3 gene DOID:687 hepatoblastoma ISO RGD:1314553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 9011118 Gli3 GLI family zinc finger 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1314553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24816253 9011118 Gli3 GLI family zinc finger 3 gene DOID:9001471 Anorectal Malformations ISO RGD:620272 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum PMID:27079746|REF_RGD_ID:12743602 9011118 Gli3 GLI family zinc finger 3 gene DOID:9001471 Anorectal Malformations ISO RGD:620272 D RGD:9068941 20230107 RGD mRNA:decreased expression:terminal rectum PMID:25213187|REF_RGD_ID:155791683 9011118 Gli3 GLI family zinc finger 3 gene DOID:9003071 Postaxial Polydactyly ISO RGD:1314553 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Postaxial polydactyly PMID:10441570|PMID:25741868|PMID:28492532 9011118 Gli3 GLI family zinc finger 3 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1314553 D RGD:7240710 20180130 OMIM 9011118 Gli3 GLI family zinc finger 3 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1314553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLI3-related postaxial polydactyly | ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 | ClinVar Annotator: match by term: Postaxial polydactyly type B | ClinVar Annotator: match by term: Postaxial polydactyly, type A1/B PMID:10441342|PMID:10441570|PMID:12794692|PMID:15739154|PMID:16199547|PMID:18000979|PMID:22428873|PMID:22903559|PMID:24736735|PMID:25741868|PMID:26508445|PMID:28315472|PMID:28492532|PMID:9354785 9011118 Gli3 GLI family zinc finger 3 gene DOID:9005219 Abnormal Reflexes ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperreflexia PMID:28492532 9011118 Gli3 GLI family zinc finger 3 gene DOID:9005660 Hypopigmentation ISO RGD:1314553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18397875 9011118 Gli3 GLI family zinc finger 3 gene DOID:9007878 Crossed Polydactyly, Type I ISO RGD:1314553 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.R643X (1927 C>T) (human) PMID:16874813|REF_RGD_ID:12738209 9011118 Gli3 GLI family zinc finger 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1314553 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9011118 Gli3 GLI family zinc finger 3 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1314553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:21326280|PMID:22903559|PMID:24736735|PMID:25741868 9011118 Gli3 GLI family zinc finger 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314553 D RGD:7240710 20180130 OMIM 9011118 Gli3 GLI family zinc finger 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Preaxial polydactyly 4 PMID:10441570|PMID:15739154|PMID:15811011|PMID:18000979|PMID:18435847|PMID:24736735|PMID:25741868|PMID:28492532|PMID:34906502|PMID:6641002 9011118 Gli3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314553 D RGD:7240710 20180130 OMIM 9011118 Gli3 GLI family zinc finger 3 gene DOID:9248 Pallister-Hall syndrome ISO RGD:1314553 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly | ClinVar Annotator: match by term: Pallister-Hall syndrome PMID:10441570|PMID:10945658|PMID:12545275|PMID:15739154|PMID:15811011|PMID:18000979|PMID:18435847|PMID:24736735|PMID:25741868|PMID:28492532|PMID:34482537|PMID:34906502|PMID:6641002|PMID:9054938|PMID:9148633 9011118 Gli3 GLI family zinc finger 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 9011189 Rassf6 Ras association domain family member 6 gene DOID:630 genetic disease ISO RGD:1605848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011202 Mobp myelin associated oligodendrocyte basic protein gene DOID:0050256 angiostrongyliasis disease_progression ISO RGD:10908 D RGD:9068941 20200609 RGD PMID:20399564|REF_RGD_ID:27226693 9011202 Mobp myelin associated oligodendrocyte basic protein gene DOID:1459 hypothyroidism ISO RGD:3101 D RGD:9068941 20200609 RGD PMID:11592121|REF_RGD_ID:27226698 9011202 Mobp myelin associated oligodendrocyte basic protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736574 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 9011202 Mobp myelin associated oligodendrocyte basic protein gene DOID:630 genetic disease ISO RGD:736574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011202 Mobp myelin associated oligodendrocyte basic protein gene DOID:678 progressive supranuclear palsy ISO RGD:736574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21685912 9011202 Mobp myelin associated oligodendrocyte basic protein gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10908 D RGD:9068941 20200609 RGD PMID:10623862|REF_RGD_ID:27226694 9011202 Mobp myelin associated oligodendrocyte basic protein gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:3101 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina: PMID:21350694|REF_RGD_ID:10401135 9011202 Mobp myelin associated oligodendrocyte basic protein gene DOID:9255 frontotemporal dementia disease_progression ISO RGD:736574 D RGD:9068941 20200609 RGD DNA:SNP: :rs1768208(human) PMID:24994843|REF_RGD_ID:27226701 9011212 Serbp1 SERPINE1 mRNA binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1606807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 9011212 Serbp1 SERPINE1 mRNA binding protein 1 gene DOID:630 genetic disease ISO RGD:1606807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011212 Serbp1 SERPINE1 mRNA binding protein 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1606807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9011212 Serbp1 SERPINE1 mRNA binding protein 1 gene DOID:9000918 Disease Progression ISO RGD:1606807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9011229 Lif LIF interleukin 6 family cytokine gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 9011229 Lif LIF interleukin 6 family cytokine gene DOID:11612 polycystic ovary syndrome ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9011229 Lif LIF interleukin 6 family cytokine gene DOID:219 colon cancer ameliorates ISO RGD:736774 D RGD:9068941 20220217 RGD human cells in mouse model PMID:29899555|REF_RGD_ID:151356919 9011229 Lif LIF interleukin 6 family cytokine gene DOID:2316 brain ischemia ISO RGD:620865 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:20221422|REF_RGD_ID:2326053 9011229 Lif LIF interleukin 6 family cytokine gene DOID:6000 congestive heart failure ISO RGD:620865 D RGD:9068941 20200609 RGD PMID:20051627|REF_RGD_ID:2326058 9011229 Lif LIF interleukin 6 family cytokine gene DOID:630 genetic disease ISO RGD:736774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011229 Lif LIF interleukin 6 family cytokine gene DOID:9001981 Weight Loss ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291613 9011229 Lif LIF interleukin 6 family cytokine gene DOID:9002739 Female Urogenital Diseases ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 9011229 Lif LIF interleukin 6 family cytokine gene DOID:9003281 Spontaneous Abortions ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9011229 Lif LIF interleukin 6 family cytokine gene DOID:9003936 Cardiomegaly ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15226216 9011229 Lif LIF interleukin 6 family cytokine gene DOID:9004994 Embryo Loss ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23409146 9011229 Lif LIF interleukin 6 family cytokine gene DOID:9007096 Stroke ISO RGD:620865 D RGD:9068941 20200609 RGD PMID:18042242|REF_RGD_ID:2326063 9011229 Lif LIF interleukin 6 family cytokine gene DOID:9007096 Stroke ISO RGD:736774 D RGD:9068941 20200609 RGD PMID:18042242|REF_RGD_ID:2326063 9011229 Lif LIF interleukin 6 family cytokine gene DOID:9007456 Female Infertility ISO RGD:736774 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23407384 9011229 Lif LIF interleukin 6 family cytokine gene DOID:9256 colorectal cancer disease_progression ISO RGD:736774 D RGD:9068941 20220217 RGD protein:increased expression:colon (human) PMID:29899555|REF_RGD_ID:151356919 9011245 Fam180b family with sequence similarity 180 member B gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:2298817 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 9011245 Fam180b family with sequence similarity 180 member B gene DOID:1059 intellectual disability ISO RGD:2298817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9011245 Fam180b family with sequence similarity 180 member B gene DOID:630 genetic disease ISO RGD:2298817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011252 Ablim1 actin binding LIM protein 1 gene DOID:303 substance-related disorder ISO RGD:1346152 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9011252 Ablim1 actin binding LIM protein 1 gene DOID:630 genetic disease ISO RGD:1346152 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011313 Tom1l1 target of myb1 like 1 membrane trafficking protein gene DOID:630 genetic disease ISO RGD:1351961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011313 Tom1l1 target of myb1 like 1 membrane trafficking protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1351961 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9011336 LOC102019416 chromosome unknown open reading frame, human C3orf52 gene DOID:630 genetic disease ISO RGD:1606226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011336 LOC102019416 chromosome unknown open reading frame, human C3orf52 gene DOID:9001132 Hypotrichosis 15 ISO RGD:1606226 D RGD:7240710 20230104 OMIM 9011336 LOC102019416 chromosome unknown open reading frame, human C3orf52 gene DOID:9001132 Hypotrichosis 15 ISO RGD:1606226 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis 15 PMID:32336749|PMID:34309526 9011345 Mlnr motilin receptor gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 9011345 Mlnr motilin receptor gene DOID:1059 intellectual disability ISO RGD:1354387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9011345 Mlnr motilin receptor gene DOID:630 genetic disease ISO RGD:1354387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011369 Magel2 MAGE family member L2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 9011369 Magel2 MAGE family member L2 gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1320098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 9011369 Magel2 MAGE family member L2 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1320098 D RGD:7240710 20180130 OMIM 9011369 Magel2 MAGE family member L2 gene DOID:0111715 Schaaf-Yang syndrome ISO RGD:1320098 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome PMID:24076603|PMID:24088041|PMID:25326635|PMID:25473036|PMID:25590979|PMID:25741868|PMID:26365340|PMID:26633545|PMID:27195816|PMID:27632685|PMID:28281571|PMID:28492532|PMID:29581464|PMID:29599419|PMID:29660409|PMID:30302899|PMID:31152388|PMID:31397880|PMID:31680349|PMID:32860008|PMID:33371171 9011369 Magel2 MAGE family member L2 gene DOID:1059 intellectual disability ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9011369 Magel2 MAGE family member L2 gene DOID:11983 Prader-Willi syndrome ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:27195816|PMID:28281571|PMID:28492532|PMID:28631899 9011369 Magel2 MAGE family member L2 gene DOID:12849 autistic disorder ISO RGD:1320098 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311|PMID:31690835 9011369 Magel2 MAGE family member L2 gene DOID:1826 epilepsy ISO RGD:1320098 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9011369 Magel2 MAGE family member L2 gene DOID:1923 disorder of sexual development ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ambiguous genitalia PMID:24076603|PMID:25741868|PMID:26365340|PMID:27195816|PMID:28492532|PMID:30302899|PMID:31152388|PMID:31680349 9011369 Magel2 MAGE family member L2 gene DOID:1932 Angelman syndrome ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 9011369 Magel2 MAGE family member L2 gene DOID:5419 schizophrenia ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9011369 Magel2 MAGE family member L2 gene DOID:630 genetic disease ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28281571|PMID:28492532|PMID:29581464|PMID:29599419|PMID:29660409|PMID:30302899|PMID:30323850 9011369 Magel2 MAGE family member L2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320098 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:29660409|PMID:30302899 9011369 Magel2 MAGE family member L2 gene DOID:9008582 Developmental Disease ISO RGD:1320098 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9011391 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1553062 D RGD:9068941 20220825 MouseDO OMIM:300816 | OMIM:609060 | OMIM:610498 | OMIM:610505 | OMIM:610678 | OMIM:611719 | OMIM:613559 | OMIM:614096 | OMIM:614582 | OMIM:614702 | OMIM:614922 | OMIM:614924 | OMIM:614932 | OMIM:614946 | OMIM:614947 | OMIM:615395 | OMIM:615440 | OMIM:615578 | OMIM:615595 | OMIM:615917 | OMIM:615918 | OMIM:616045 | OMIM:616198 | OMIM:616239 9011391 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1318828 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial oxidative phosphorylation disorder PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25741868|PMID:25741892|PMID:28492532 9011391 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:0111480 combined oxidative phosphorylation deficiency 10 ISO RGD:1318828 D RGD:7240710 20180130 OMIM 9011391 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:0111480 combined oxidative phosphorylation deficiency 10 ISO RGD:1318828 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency PMID:16199547|PMID:17576681|PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25552653|PMID:25640679|PMID:25741868|PMID:25741892|PMID:26061759|PMID:26539891|PMID:27151179|PMID:27256614|PMID:28492532|PMID:29331171|PMID:29440775|PMID:30369941|PMID:30831263|PMID:31451716|PMID:31842146|PMID:33258288|PMID:33586140|PMID:34990597|PMID:9536098 9011391 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:3659 sialuria ISO RGD:1318828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 9011391 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:630 genetic disease ISO RGD:1318828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22608499|PMID:25058219|PMID:25741868|PMID:28492532|PMID:31842146 9011391 Mto1 mitochondrial tRNA translation optimization 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318828 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22608499|PMID:23929671|PMID:24033266|PMID:25058219|PMID:25741868|PMID:25741892|PMID:28492532 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:0060224 atrial fibrillation ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:10286 prostate carcinoma ISO RGD:1348590 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:12180238|REF_RGD_ID:2293634 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:10969 hemiplegia ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10566621 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:1100 ovarian disease ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20146381 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:14228 oligospermia ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16483355 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:1612 breast cancer disease_progression ISO RGD:1348590 D RGD:9068941 20200609 RGD PMID:11687975|REF_RGD_ID:2293635 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:2696 Leydig cell tumor ISO RGD:1348590 D RGD:9068941 20200609 RGD PMID:16007123|REF_RGD_ID:2293633 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:345 uterine disease ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20146381 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:9000918 Disease Progression ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10566621 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348590 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:serum PMID:6768680|REF_RGD_ID:2293637 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:9005147 Hydatidiform Mole ISO RGD:1348590 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:2473429|REF_RGD_ID:2293636 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:9006494 Follicular Thyroid Cancer ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10566621 9011401 Cga glycoprotein hormones, alpha polypeptide gene DOID:9553 adrenal gland disease ISO RGD:1348590 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20146381 9011408 Thbs4 thrombospondin 4 gene DOID:10487 Hirschsprung's disease ISO RGD:735475 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 9011408 Thbs4 thrombospondin 4 gene DOID:630 genetic disease ISO RGD:735475 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011408 Thbs4 thrombospondin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735475 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9011433 LOC102024203 histone H2A type 2-B gene DOID:1540 parathyroid carcinoma ISO RGD:1350646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9011433 LOC102024203 histone H2A type 2-B gene DOID:630 genetic disease ISO RGD:1350646 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011433 LOC102024203 histone H2A type 2-B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350646 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733364 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:61909 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:733364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:1059 intellectual disability ISO RGD:733364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:10591 pre-eclampsia ISO RGD:733364 D RGD:9068941 20231026 RGD mRNA:altered expression:placenta, adipose tissue (human) PMID:20655109|REF_RGD_ID:401850787 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:10591 pre-eclampsia exacerbates ISO RGD:733364 D RGD:9068941 20231019 RGD mRNA, protein:increased expression:placenta (human) PMID:28352810|REF_RGD_ID:401842369 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:10787 premature menopause ISO RGD:61909 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733364 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:13001 carotid stenosis ISO RGD:733364 D RGD:9068941 20231005 RGD mRNA:increased expression:carotid artery segment (human) PMID:16311343|REF_RGD_ID:401827904 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:13580 cholestasis ISO RGD:733364 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17256725 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:1936 atherosclerosis ISO RGD:733364 D RGD:9068941 20231005 RGD mRNA:increased expression:carotid artery segment (human) PMID:15528463|REF_RGD_ID:401827901 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:1936 atherosclerosis treatment ISO RGD:62202 D RGD:9068941 20231019 RGD PMID:29593532|PMID:33011372|REF_RGD_ID:401827839|REF_RGD_ID:401842381 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:2377 multiple sclerosis ISO RGD:733364 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple sclerosis PMID:27253448 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:3393 coronary artery disease ISO RGD:733364 D RGD:9068941 20231019 RGD associated with type 2 diabetes mellitus;mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:28871240|REF_RGD_ID:401850555 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:3526 cerebral infarction susceptibility ISO RGD:733364 D RGD:9068941 20231019 RGD DNA:SNPs, haplotype:promoter:c.-115G>A, c.-840C>A (rs12221497, rs61896015) (human) PMID:21903943|REF_RGD_ID:401842365 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:5425 ovarian hyperstimulation syndrome ISO RGD:62202 D RGD:9068941 20220825 MouseDO OMIM:608115 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:733364 D RGD:9068941 20231019 RGD DNA:SNPs, haplotype:promoter:c.-115G>A, c.-840C>A (rs12221497, rs61896015) (human) PMID:21903943|REF_RGD_ID:401842365 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:630 genetic disease ISO RGD:733364 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:6713 cerebrovascular disease susceptibility ISO RGD:733364 D RGD:9068941 20231019 RGD ischemic cerebrovascular disease;DNA:SNPs, haplotype:promoter:c.-115G>A, c.-840C>A (rs12221497, rs61896015) (human) PMID:21903943|REF_RGD_ID:401842365 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:7693 abdominal aortic aneurysm ISO RGD:733364 D RGD:9068941 20231005 RGD mRNA:increased expression:abdominal aorta (human) PMID:16311343|REF_RGD_ID:401827904 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9000528 Coronary Disease exacerbates ISO RGD:733364 D RGD:9068941 20231005 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:16252156|REF_RGD_ID:401827902 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9000528 Coronary Disease exacerbates ISO RGD:733364 D RGD:9068941 20231026 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:19211025|REF_RGD_ID:401850788 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9002457 Experimental Arthritis ISO RGD:62202 D RGD:9068941 20200609 RGD PMID:21859686|REF_RGD_ID:6480864 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61909 D RGD:9068941 20231005 RGD DNA:hypomethylation:promoter PMID:21136146|REF_RGD_ID:13831298 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:61909 D RGD:9068941 20230914 RGD PMID:27821167|REF_RGD_ID:401799622 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9006778 Carotid Atherosclerosis exacerbates ISO RGD:733364 D RGD:9068941 20231019 RGD DNA:silent mutation:exon 4:c.297C>T (rs2279238) (human) PMID:35907563|REF_RGD_ID:401842367 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9006944 Alcoholic Fatty Liver treatment ISO RGD:61909 D RGD:9068941 20231019 RGD PMID:26256083|REF_RGD_ID:11522097 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:733364 D RGD:9068941 20231019 RGD DNA:SNPs, haplotype:promoter:c.-115G>A, c.-840C>A (rs12221497, rs61896015) (human) PMID:21903943|REF_RGD_ID:401842365 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733364 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17256725 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733364 D RGD:9068941 20231019 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:28871240|REF_RGD_ID:401850555 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9452 steatotic liver disease ISO RGD:733364 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23651738 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9970 obesity ISO RGD:733364 D RGD:9068941 20200609 RGD DNA:polymorphism:multiple PMID:17108812|REF_RGD_ID:1626248 9011438 Nr1h3 nuclear receptor subfamily 1 group H member 3 gene DOID:9970 obesity disease_progression ISO RGD:61909 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 9011464 Snx10 sorting nexin 10 gene DOID:0080600 COVID-19 ISO RGD:1314019 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9011464 Snx10 sorting nexin 10 gene DOID:0110940 autosomal recessive osteopetrosis 8 ISO RGD:1314019 D RGD:7240710 20180130 OMIM 9011464 Snx10 sorting nexin 10 gene DOID:0110940 autosomal recessive osteopetrosis 8 ISO RGD:1314019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 PMID:22499339|PMID:23123320|PMID:23280965|PMID:25212774|PMID:25741868|PMID:25811986|PMID:28492532 9011464 Snx10 sorting nexin 10 gene DOID:13533 osteopetrosis ISO RGD:1314019 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Infantile osteopetrosis PMID:25741868 9011464 Snx10 sorting nexin 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9011464 Snx10 sorting nexin 10 gene DOID:630 genetic disease ISO RGD:1314019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9011464 Snx10 sorting nexin 10 gene DOID:9007188 Liver Neoplasms ISO RGD:1314019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:0050751 T-cell large granular lymphocyte leukemia ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916|PMID:29200404 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:0050861 colorectal adenocarcinoma ameliorates ISO RGD:730906 D RGD:9068941 20220812 RGD human cells in a mouse model PMID:23733954|REF_RGD_ID:11076784 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:0050861 colorectal adenocarcinoma disease_progression ISO RGD:730906 D RGD:9068941 20220729 RGD protein:increased expression:colorectum (human) PMID:21826656|REF_RGD_ID:153298931 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192916 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:730906 D RGD:7240710 20180130 OMIM 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:730906 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:13679528|PMID:15827093|PMID:16199547|PMID:16464942|PMID:16787985|PMID:17030597|PMID:17576681|PMID:20538865|PMID:24033266|PMID:24825865|PMID:24972766|PMID:25586472|PMID:25741868|PMID:26703237|PMID:27600764|PMID:28492532|PMID:29200404|PMID:29844444|PMID:34006472|PMID:9536098 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 ISO RGD:730906 D RGD:7240710 20200910 OMIM 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 ISO RGD:730906 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant PMID:25741868|PMID:28492532|PMID:29844444|PMID:31690038|PMID:31902742 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:0081042 T-cell prolymphocytic leukemia ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:234 colon adenocarcinoma ISO RGD:730906 D RGD:9068941 20220812 RGD DNA:SNPs:introns: (rs6503691, rs7218653) (human) PMID:22121102|REF_RGD_ID:153323313 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:730906 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant PMID:28492532 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:3717 gastric adenocarcinoma exacerbates ISO RGD:730906 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:730906 D RGD:9068941 20220729 RGD mRNA,protein:increased expression:lung (human) PMID:25137041|REF_RGD_ID:153298930 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:630 genetic disease ISO RGD:730906 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:730906 D RGD:9068941 20220729 RGD mRNA:increased expression:liver (human) PMID:31485610|REF_RGD_ID:153298932 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:730906 D RGD:9068941 20220729 RGD protein:increased expression:liver (human) PMID:17047057|REF_RGD_ID:153298929 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:9000309 Growth Hormone Insensitivity with Immune Dysregulation ISO RGD:730906 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity syndrome with immune dysregulation PMID:25741868|PMID:28492532 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:9002304 Prostatic Neoplasms ISO RGD:11352 D RGD:9068941 20200609 RGD PMID:14695191|REF_RGD_ID:2291933 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:9002669 Hypoxia ISO RGD:3774 D RGD:9068941 20200609 RGD mRNA:increased expression:perifornical nucleus PMID:16730240|REF_RGD_ID:1601380 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:9002720 Splenomegaly ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:9003745 Enteropathy-Associated T-Cell Lymphoma ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29200404 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:9004009 Reperfusion Injury ISO RGD:3774 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:9004713 Acute-Phase Reaction ISO RGD:3774 D RGD:9068941 20200609 RGD protein:decreased activity:liver PMID:17565389|REF_RGD_ID:2291935 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3774 D RGD:9068941 20200609 RGD PMID:17003334|REF_RGD_ID:2291940 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:9005930 Endotoxemia ISO RGD:3774 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:liver PMID:17327369|REF_RGD_ID:1601383 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:9007188 Liver Neoplasms exacerbates ISO RGD:11352 D RGD:9068941 20220812 RGD B6 strain PMID:24838184|REF_RGD_ID:153298928 9011478 Stat5b signal transducer and activator of transcription 5B gene DOID:9008671 T-Lymphocytopenia ISO RGD:730906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17030597 9011515 Siglec1 sialic acid binding Ig like lectin 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1323674 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 9011515 Siglec1 sialic acid binding Ig like lectin 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1323674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 9011515 Siglec1 sialic acid binding Ig like lectin 1 gene DOID:630 genetic disease ISO RGD:1323674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011515 Siglec1 sialic acid binding Ig like lectin 1 gene DOID:9001488 Human Influenza ISO RGD:1323674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 9011515 Siglec1 sialic acid binding Ig like lectin 1 gene DOID:9004174 Inosine Triphosphatase Deficiency ISO RGD:1323674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inosine triphosphatase deficiency PMID:28492532 9011541 Ddx19b DEAD-box helicase 19B gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1346558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 9011541 Ddx19b DEAD-box helicase 19B gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1346558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9011541 Ddx19b DEAD-box helicase 19B gene DOID:630 genetic disease ISO RGD:1346558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011577 LOC102003714 chromosome unknown open reading frame, human C2orf88 gene DOID:0111072 myostatin-related muscle hypertrophy ISO RGD:1601946 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy PMID:10610713|PMID:11555072|PMID:15215484|PMID:19232494|PMID:20301671|PMID:21283721|PMID:24479661|PMID:28492532 9011577 LOC102003714 chromosome unknown open reading frame, human C2orf88 gene DOID:0111944 immunodeficiency 31B ISO RGD:1601946 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 9011577 LOC102003714 chromosome unknown open reading frame, human C2orf88 gene DOID:630 genetic disease ISO RGD:1601946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011577 LOC102003714 chromosome unknown open reading frame, human C2orf88 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1601946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9011577 LOC102003714 chromosome unknown open reading frame, human C2orf88 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9011591 Ddx11 DEAD/H-box helicase 11 gene DOID:0060535 Warsaw breakage syndrome ISO RGD:1315426 D RGD:7240710 20180130 OMIM 9011591 Ddx11 DEAD/H-box helicase 11 gene DOID:0060535 Warsaw breakage syndrome ISO RGD:1315426 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Warsaw breakage syndrome PMID:20137776|PMID:20696886|PMID:23033317|PMID:25741868|PMID:26089203|PMID:28492532|PMID:30216658|PMID:31169992|PMID:31287223|PMID:32855419|PMID:34906519 9011591 Ddx11 DEAD/H-box helicase 11 gene DOID:10907 microcephaly ISO RGD:1315426 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9011591 Ddx11 DEAD/H-box helicase 11 gene DOID:630 genetic disease ISO RGD:1315426 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28960803 9011591 Ddx11 DEAD/H-box helicase 11 gene DOID:9004203 Chromosome Breakage ISO RGD:1315426 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25561740 9011630 Mis18bp1 MIS18 binding protein 1 gene DOID:630 genetic disease ISO RGD:1313558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011630 Mis18bp1 MIS18 binding protein 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313558 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9011667 Lsm12 LSM12 homolog gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1606981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 9011667 Lsm12 LSM12 homolog gene DOID:630 genetic disease ISO RGD:1606981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011686 Hoxd4 homeobox D4 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320172 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 9011686 Hoxd4 homeobox D4 gene DOID:630 genetic disease ISO RGD:1320172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011686 Hoxd4 homeobox D4 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1320172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to PMID:15776434 9011697 Tmc6 transmembrane channel like 6 gene DOID:13777 epidermodysplasia verruciformis ISO RGD:1351267 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis PMID:12426567|PMID:15042430|PMID:16199547|PMID:17139267|PMID:17576681|PMID:22158547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:36268689|PMID:9536098 9011697 Tmc6 transmembrane channel like 6 gene DOID:630 genetic disease ISO RGD:1351267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9011697 Tmc6 transmembrane channel like 6 gene DOID:9004020 Epidermodysplasia Verruciformis 1 ISO RGD:1351267 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition PMID:12426567|PMID:15042430|PMID:16199547|PMID:17139267|PMID:17576681|PMID:25741868|PMID:28492532|PMID:36268689|PMID:9536098 9011697 Tmc6 transmembrane channel like 6 gene DOID:9004020 Epidermodysplasia Verruciformis 1 susceptibility ISO RGD:1351267 D RGD:7240710 20240320 OMIM 9011697 Tmc6 transmembrane channel like 6 gene DOID:9006415 Epidermodysplasia Verruciformis 2 ISO RGD:1351267 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098 9011729 Hoxd10 homeobox D10 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1315169 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 9011729 Hoxd10 homeobox D10 gene DOID:0111568 congenital vertical talus ISO RGD:1315169 D RGD:7240710 20180130 OMIM 9011729 Hoxd10 homeobox D10 gene DOID:0111568 congenital vertical talus ISO RGD:1315169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital vertical talus PMID:15146389|PMID:16450407|PMID:25741868 9011729 Hoxd10 homeobox D10 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146389 9011729 Hoxd10 homeobox D10 gene DOID:3068 glioblastoma ISO RGD:1315169 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34737577 9011729 Hoxd10 homeobox D10 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 9011729 Hoxd10 homeobox D10 gene DOID:630 genetic disease ISO RGD:1315169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011729 Hoxd10 homeobox D10 gene DOID:7148 rheumatoid arthritis ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 9011729 Hoxd10 homeobox D10 gene DOID:9000918 Disease Progression ISO RGD:1315169 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:34737577 9011729 Hoxd10 homeobox D10 gene DOID:9004998 Kyphoscoliosis ISO RGD:1306511 D RGD:9068941 20200609 RGD mRNA:decreased expression:verterbra PMID:18327665|REF_RGD_ID:11354896 9011729 Hoxd10 homeobox D10 gene DOID:9007364 Mouth Neoplasms ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22227861 9011729 Hoxd10 homeobox D10 gene DOID:9007573 Flatfoot ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146389|PMID:16450407|PMID:24239177 9011729 Hoxd10 homeobox D10 gene DOID:9007794 Lower Extremity Deformities, Congenital ISO RGD:1315169 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9409668 9011735 Npas4 neuronal PAS domain protein 4 gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 9011735 Npas4 neuronal PAS domain protein 4 gene DOID:1059 intellectual disability ISO RGD:734007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9011735 Npas4 neuronal PAS domain protein 4 gene DOID:10907 microcephaly ISO RGD:734007 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9011735 Npas4 neuronal PAS domain protein 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9011735 Npas4 neuronal PAS domain protein 4 gene DOID:2746 glycogen storage disease V ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9011735 Npas4 neuronal PAS domain protein 4 gene DOID:630 genetic disease ISO RGD:734007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011735 Npas4 neuronal PAS domain protein 4 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:734007 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9011735 Npas4 neuronal PAS domain protein 4 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:734007 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 9011754 Arhgef26 Rho guanine nucleotide exchange factor 26 gene DOID:630 genetic disease ISO RGD:1603402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011773 Rnf150 ring finger protein 150 gene DOID:630 genetic disease ISO RGD:1322589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011784 Podn podocan gene DOID:10283 prostate cancer ISO RGD:1320634 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9011784 Podn podocan gene DOID:630 genetic disease ISO RGD:1320634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011802 Il2 interleukin 2 gene DOID:0050127 sinusitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:11758471|REF_RGD_ID:8662964 9011802 Il2 interleukin 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23962110 9011802 Il2 interleukin 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:733315 D RGD:9068941 20220825 MouseDO 9011802 Il2 interleukin 2 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:620047 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:17338814|REF_RGD_ID:8662972 9011802 Il2 interleukin 2 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:10389944|REF_RGD_ID:8662949 9011802 Il2 interleukin 2 gene DOID:0060224 atrial fibrillation ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:17923414|REF_RGD_ID:8662962 9011802 Il2 interleukin 2 gene DOID:0060500 drug allergy ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:1549655|REF_RGD_ID:8662975 9011802 Il2 interleukin 2 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:620047 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 9011802 Il2 interleukin 2 gene DOID:0080599 Coronavirus infectious disease ISO RGD:733315 D RGD:9068941 20200618 RGD PMID:19906920|REF_RGD_ID:4891446 9011802 Il2 interleukin 2 gene DOID:0080600 COVID-19 ISO RGD:730858 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 9011802 Il2 interleukin 2 gene DOID:0080600 COVID-19 ISO RGD:730858 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:31986264 9011802 Il2 interleukin 2 gene DOID:0080600 COVID-19 severity ISO RGD:730858 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 9011802 Il2 interleukin 2 gene DOID:0081120 Graves ophthalmopathy ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2786308|REF_RGD_ID:8662939 9011802 Il2 interleukin 2 gene DOID:0081267 graft-versus-host disease ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21734238|PMID:8704686|REF_RGD_ID:5147911|REF_RGD_ID:8662974 9011802 Il2 interleukin 2 gene DOID:0111079 birdshot chorioretinopathy ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor PMID:21570674|REF_RGD_ID:5147908 9011802 Il2 interleukin 2 gene DOID:10003 sensorineural hearing loss ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:9693304|REF_RGD_ID:8662926 9011802 Il2 interleukin 2 gene DOID:104 bacterial infectious disease ISO RGD:730858 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood PMID:21574159|REF_RGD_ID:5147907 9011802 Il2 interleukin 2 gene DOID:10652 Alzheimer's disease ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:8915041|REF_RGD_ID:10047080 9011802 Il2 interleukin 2 gene DOID:10652 Alzheimer's disease severity ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased secretion:mononuclear cell: PMID:8586980|REF_RGD_ID:10047081 9011802 Il2 interleukin 2 gene DOID:1067 open-angle glaucoma ISO RGD:730858 D RGD:9068941 20200609 RGD protein:decreased expression:aqueous humor PMID:21834929|REF_RGD_ID:5147910 9011802 Il2 interleukin 2 gene DOID:10754 otitis media disease_progression ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:7769948|REF_RGD_ID:8662922 9011802 Il2 interleukin 2 gene DOID:10914 amnestic disorder ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8241462 9011802 Il2 interleukin 2 gene DOID:10964 cholesteatoma of middle ear ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:8737779|REF_RGD_ID:8662931 9011802 Il2 interleukin 2 gene DOID:11054 urinary bladder cancer ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1949363|PMID:3495671 9011802 Il2 interleukin 2 gene DOID:11054 urinary bladder cancer treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:3262172|REF_RGD_ID:8663471 9011802 Il2 interleukin 2 gene DOID:11168 anogenital venereal wart ISO RGD:730858 D RGD:9068941 20201105 RGD protein:decreased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 9011802 Il2 interleukin 2 gene DOID:1184 nephrotic syndrome ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19242727 9011802 Il2 interleukin 2 gene DOID:1205 allergic disease ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:21509781|REF_RGD_ID:5147912 9011802 Il2 interleukin 2 gene DOID:12306 vitiligo ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22342018|REF_RGD_ID:8663475 9011802 Il2 interleukin 2 gene DOID:12361 Graves' disease ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2279527|REF_RGD_ID:8662947 9011802 Il2 interleukin 2 gene DOID:1240 leukemia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17500047 9011802 Il2 interleukin 2 gene DOID:12704 ataxia telangiectasia ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:6432389|REF_RGD_ID:8693328 9011802 Il2 interleukin 2 gene DOID:12849 autistic disorder ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16360218|PMID:18929414 9011802 Il2 interleukin 2 gene DOID:12894 Sjogren's syndrome ISO RGD:733315 D RGD:9068941 20220825 MouseDO OMIM:270150 9011802 Il2 interleukin 2 gene DOID:13141 uveitis ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor,serum PMID:10865312|REF_RGD_ID:7365086 9011802 Il2 interleukin 2 gene DOID:13241 Behcet's disease ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:21640045|REF_RGD_ID:5147902 9011802 Il2 interleukin 2 gene DOID:13580 cholestasis treatment ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:29698570|REF_RGD_ID:14928214 9011802 Il2 interleukin 2 gene DOID:14566 disease of cellular proliferation ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12579325 9011802 Il2 interleukin 2 gene DOID:1470 major depressive disorder ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12635532 9011802 Il2 interleukin 2 gene DOID:1474 aggressive periodontitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21730256|REF_RGD_ID:5147873 9011802 Il2 interleukin 2 gene DOID:1577 limited scleroderma susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism::-384T>G(human) PMID:17444587|REF_RGD_ID:4142872 9011802 Il2 interleukin 2 gene DOID:1679 cystitis ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:20860016|REF_RGD_ID:5147913 9011802 Il2 interleukin 2 gene DOID:1749 squamous cell carcinoma treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:11023201|REF_RGD_ID:8663457 9011802 Il2 interleukin 2 gene DOID:1793 pancreatic cancer treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:9080118|REF_RGD_ID:8663440 9011802 Il2 interleukin 2 gene DOID:1883 hepatitis C ISO RGD:730858 D RGD:9068941 20201112 RGD protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) PMID:17553896|REF_RGD_ID:40400745 9011802 Il2 interleukin 2 gene DOID:1884 viral hepatitis susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism::-330T>G(human) PMID:21162873|REF_RGD_ID:14747036 9011802 Il2 interleukin 2 gene DOID:1909 melanoma ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12374674|PMID:12439608|PMID:15577323|PMID:15917704|PMID:16131448|PMID:16248763|PMID:16260693|PMID:16432458|PMID:16809738|PMID:16939954|PMID:17023156|PMID:17105418|PMID:17576460|PMID:17709802|PMID:17761969|PMID:18176117|PMID:18281670|PMID:18298334|PMID:18332650|PMID:18999936|PMID:19243244|PMID:20423231 9011802 Il2 interleukin 2 gene DOID:1936 atherosclerosis ISO RGD:733315 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:21606463|REF_RGD_ID:5147904 9011802 Il2 interleukin 2 gene DOID:2043 hepatitis B ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:25968473|REF_RGD_ID:14747044 9011802 Il2 interleukin 2 gene DOID:2048 autoimmune hepatitis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 9011802 Il2 interleukin 2 gene DOID:2048 autoimmune hepatitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:29233784|REF_RGD_ID:14747042 9011802 Il2 interleukin 2 gene DOID:2048 autoimmune hepatitis disease_progression ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:29323192|REF_RGD_ID:14747037 9011802 Il2 interleukin 2 gene DOID:2055 post-traumatic stress disorder ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21714072|REF_RGD_ID:5147887 9011802 Il2 interleukin 2 gene DOID:2355 anemia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7678812 9011802 Il2 interleukin 2 gene DOID:2508 Takayasu's arteritis disease_progression ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2574087|REF_RGD_ID:8693331 9011802 Il2 interleukin 2 gene DOID:2508 Takayasu's arteritis susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism::-300G>T(human) PMID:17002904|REF_RGD_ID:8663467 9011802 Il2 interleukin 2 gene DOID:2841 asthma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:20926789|REF_RGD_ID:4889118 9011802 Il2 interleukin 2 gene DOID:2841 asthma susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2069762(human) PMID:16333313|REF_RGD_ID:8663473 9011802 Il2 interleukin 2 gene DOID:2921 glomerulonephritis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440|PMID:9403216 9011802 Il2 interleukin 2 gene DOID:3042 allergic contact dermatitis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11312644|PMID:22245253 9011802 Il2 interleukin 2 gene DOID:3068 glioblastoma ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7719933 9011802 Il2 interleukin 2 gene DOID:3070 high grade glioma treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:12864971|REF_RGD_ID:8663439 9011802 Il2 interleukin 2 gene DOID:3082 interstitial lung disease ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21257923|REF_RGD_ID:5144220 9011802 Il2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:1673687|REF_RGD_ID:8693325 9011802 Il2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:730858 D RGD:9068941 20200609 RGD associated with food hypersensitivity; PMID:7547077|REF_RGD_ID:8662961 9011802 Il2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:CD8+ T cell: PMID:16672002|REF_RGD_ID:8549583 9011802 Il2 interleukin 2 gene DOID:3310 atopic dermatitis ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:21982597|REF_RGD_ID:8663444 9011802 Il2 interleukin 2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2069762(human) PMID:16333313|REF_RGD_ID:8663473 9011802 Il2 interleukin 2 gene DOID:3454 brain infarction ISO RGD:620047 D RGD:9068941 20230216 RGD protein:increased expression:brain (rat) PMID:19895873|REF_RGD_ID:2325193 9011802 Il2 interleukin 2 gene DOID:418 systemic scleroderma ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:2213757|REF_RGD_ID:8663482 9011802 Il2 interleukin 2 gene DOID:4450 renal cell carcinoma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21812652|REF_RGD_ID:5147871 9011802 Il2 interleukin 2 gene DOID:4481 allergic rhinitis ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:12592663|REF_RGD_ID:8662963 9011802 Il2 interleukin 2 gene DOID:4483 rhinitis susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2069762(human) PMID:16333313|REF_RGD_ID:8663473 9011802 Il2 interleukin 2 gene DOID:5082 liver cirrhosis treatment ISO RGD:733315 D RGD:9068941 20200609 RGD associated with sclerosing cholangitis PMID:29698570|REF_RGD_ID:14928214 9011802 Il2 interleukin 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 9011802 Il2 interleukin 2 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2787951|PMID:3263896|REF_RGD_ID:8662923|REF_RGD_ID:8662971 9011802 Il2 interleukin 2 gene DOID:612 primary immunodeficiency disease treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:3048654|REF_RGD_ID:8693330 9011802 Il2 interleukin 2 gene DOID:615 leukopenia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:7678812 9011802 Il2 interleukin 2 gene DOID:627 severe combined immunodeficiency ISO RGD:730858 D RGD:9068941 20200609 RGD mRNA:decreased_expression::no detectable IL2 mRNA PMID:2342538|REF_RGD_ID:1600060 9011802 Il2 interleukin 2 gene DOID:635 acquired immunodeficiency syndrome ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9861562 9011802 Il2 interleukin 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:mononuclear cell PMID:21859687|REF_RGD_ID:5147870 9011802 Il2 interleukin 2 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:10933975|PMID:9449371|REF_RGD_ID:14747035|REF_RGD_ID:8693323 9011802 Il2 interleukin 2 gene DOID:7148 rheumatoid arthritis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:6421522|REF_RGD_ID:8662948 9011802 Il2 interleukin 2 gene DOID:850 lung disease ISO RGD:730858 D RGD:9068941 20200806 RGD associated with HTLV-I Infections;protein:increased expression:bronchoalveolar lavage fluid: PMID:24292748|REF_RGD_ID:36947872 9011802 Il2 interleukin 2 gene DOID:8506 bullous pemphigoid ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:1973607|REF_RGD_ID:8663461 9011802 Il2 interleukin 2 gene DOID:8536 herpes zoster ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:21954956|REF_RGD_ID:8663478 9011802 Il2 interleukin 2 gene DOID:8893 psoriasis disease_progression ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:2448994|REF_RGD_ID:10047079 9011802 Il2 interleukin 2 gene DOID:8924 autoimmune thrombocytopenic purpura susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism::-330T>G(human) PMID:20626741|REF_RGD_ID:11528541 9011802 Il2 interleukin 2 gene DOID:9000099 Experimental Colitis ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:16630696|REF_RGD_ID:8662978 9011802 Il2 interleukin 2 gene DOID:9000146 Plaque, Atherosclerotic ameliorates ISO RGD:733315 D RGD:9068941 20230831 RGD PMID:28062499|REF_RGD_ID:329955458 9011802 Il2 interleukin 2 gene DOID:9000641 Pain ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12421473 9011802 Il2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17105418 9011802 Il2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with melanoma PMID:8642346|REF_RGD_ID:14747043 9011802 Il2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with melanoma; PMID:8610104|REF_RGD_ID:8663438 9011802 Il2 interleukin 2 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with neuroblastoma. PMID:9362156|REF_RGD_ID:14865005 9011802 Il2 interleukin 2 gene DOID:9000972 Fever ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 9011802 Il2 interleukin 2 gene DOID:9000998 Brain Injuries ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 9011802 Il2 interleukin 2 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with Macular Degeneration;protein:decreased expression:aqueous humor: PMID:19262441|REF_RGD_ID:10047086 9011802 Il2 interleukin 2 gene DOID:9001109 Anorexia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 9011802 Il2 interleukin 2 gene DOID:9001365 Amebic Liver Abscess treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:10862314|REF_RGD_ID:14928216 9011802 Il2 interleukin 2 gene DOID:9001488 Human Influenza ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21603856|REF_RGD_ID:5147905 9011802 Il2 interleukin 2 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:620047 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 9011802 Il2 interleukin 2 gene DOID:9001579 Neurogenic Inflammation ISO RGD:620047 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglion PMID:16887276|REF_RGD_ID:8663437 9011802 Il2 interleukin 2 gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:620047 D RGD:9068941 20230608 RGD PMID:23867624|REF_RGD_ID:329848996 9011802 Il2 interleukin 2 gene DOID:9002170 Experimental Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:1949363|PMID:22306178|PMID:3495671 9011802 Il2 interleukin 2 gene DOID:9002211 Hyperalgesia ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:12755376|REF_RGD_ID:8662973 9011802 Il2 interleukin 2 gene DOID:9002211 Hyperalgesia ISO RGD:620047 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy; mRNA,protein:increased expression:spinal cord: PMID:22189457|REF_RGD_ID:8662977 9011802 Il2 interleukin 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:18423867|REF_RGD_ID:8662980 9011802 Il2 interleukin 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17105418|PMID:18298334|PMID:18625569|PMID:19409039 9011802 Il2 interleukin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17115417 9011802 Il2 interleukin 2 gene DOID:9002331 Knee Osteoarthritis severity ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid: PMID:22035391|REF_RGD_ID:5687147 9011802 Il2 interleukin 2 gene DOID:9002362 Hyperkinesis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8241462 9011802 Il2 interleukin 2 gene DOID:9002457 Experimental Arthritis ISO RGD:620047 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19169271|REF_RGD_ID:8662976 9011802 Il2 interleukin 2 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:2492102|REF_RGD_ID:10047055 9011802 Il2 interleukin 2 gene DOID:9003000 Asthenia ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 9011802 Il2 interleukin 2 gene DOID:9003036 Oral Lichen Planus ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:1666936|REF_RGD_ID:8693327 9011802 Il2 interleukin 2 gene DOID:9003278 Neoplasm, Residual ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14654953 9011802 Il2 interleukin 2 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:730858 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:17608155|REF_RGD_ID:8662959 9011802 Il2 interleukin 2 gene DOID:9003690 Carcinoma, Lewis Lung treatment ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:9399664|REF_RGD_ID:8663451 9011802 Il2 interleukin 2 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:12673448|REF_RGD_ID:14807336 9011802 Il2 interleukin 2 gene DOID:9004118 Experimental Melanoma ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:11884028|REF_RGD_ID:8662950 9011802 Il2 interleukin 2 gene DOID:9004283 Transplant Rejection ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:18089405|PMID:22564629|REF_RGD_ID:10047078|REF_RGD_ID:7364833 9011802 Il2 interleukin 2 gene DOID:9004283 Transplant Rejection treatment ISO RGD:620047 D RGD:9068941 20200609 RGD PMID:3291556|REF_RGD_ID:8662936 9011802 Il2 interleukin 2 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:730858 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 9011802 Il2 interleukin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9011802 Il2 interleukin 2 gene DOID:9004610 Acute Lung Injury ISO RGD:620047 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:21767135|REF_RGD_ID:6480432 9011802 Il2 interleukin 2 gene DOID:9005172 Lung Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18298334|PMID:18625569|PMID:7614408 9011802 Il2 interleukin 2 gene DOID:9005181 Multi-Infarct Dementia severity ISO RGD:730858 D RGD:9068941 20200609 RGD protein:increased secretion:mononuclear cell: PMID:8586980|REF_RGD_ID:10047081 9011802 Il2 interleukin 2 gene DOID:9005236 Drug Eruptions ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 9011802 Il2 interleukin 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620047 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:20213480|REF_RGD_ID:5147915 9011802 Il2 interleukin 2 gene DOID:9006024 Hypotension ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8635092 9011802 Il2 interleukin 2 gene DOID:9006618 Liver Metastasis ISO RGD:730858 D RGD:9068941 20200609 RGD associated with colon carcinoma PMID:9354462|REF_RGD_ID:14928215 9011802 Il2 interleukin 2 gene DOID:9006618 Liver Metastasis treatment ISO RGD:730858 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms, Carcinoma, Hepatocellular; PMID:11591892|REF_RGD_ID:8663446 9011802 Il2 interleukin 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:7929845|REF_RGD_ID:8662951 9011802 Il2 interleukin 2 gene DOID:9006642 Experimental Autoimmune Uveoretinitis disease_progression ISO RGD:620047 D RGD:9068941 20200609 RGD mRNA:increased expression:uvea: PMID:7803357|REF_RGD_ID:8662946 9011802 Il2 interleukin 2 gene DOID:9006698 Vaginal Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15577323 9011802 Il2 interleukin 2 gene DOID:9007188 Liver Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18298334 9011802 Il2 interleukin 2 gene DOID:9007502 Brain Neoplasms ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6319491 9011802 Il2 interleukin 2 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:730858 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-385T>G(human) PMID:19105930|REF_RGD_ID:14747034 9011802 Il2 interleukin 2 gene DOID:9008763 Femoral Fractures ISO RGD:620047 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21442011|REF_RGD_ID:5131471 9011802 Il2 interleukin 2 gene DOID:9008865 Entamoebiasis ISO RGD:730858 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16374615 9011802 Il2 interleukin 2 gene DOID:9008885 Staphylococcal Infections ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:21603642|REF_RGD_ID:5147906 9011802 Il2 interleukin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730858 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast neoplasm 9011802 Il2 interleukin 2 gene DOID:905 Zellweger syndrome ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:21888010|REF_RGD_ID:14747040 9011802 Il2 interleukin 2 gene DOID:9065 leishmaniasis ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:6224858|REF_RGD_ID:8693326 9011802 Il2 interleukin 2 gene DOID:9074 systemic lupus erythematosus ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:6421522|REF_RGD_ID:8662948 9011802 Il2 interleukin 2 gene DOID:9182 pemphigus ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:6432916|REF_RGD_ID:8693324 9011802 Il2 interleukin 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:17670937|REF_RGD_ID:2313574 9011802 Il2 interleukin 2 gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:3514237|REF_RGD_ID:10047089 9011802 Il2 interleukin 2 gene DOID:986 alopecia areata ISO RGD:730858 D RGD:9068941 20200609 RGD PMID:3261574|REF_RGD_ID:8663449 9011802 Il2 interleukin 2 gene DOID:986 alopecia areata ISO RGD:733315 D RGD:9068941 20200609 RGD PMID:16297194|REF_RGD_ID:8663450 9011810 Pebp4 phosphatidylethanolamine binding protein 4 gene DOID:630 genetic disease ISO RGD:1606949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011810 Pebp4 phosphatidylethanolamine binding protein 4 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:0050444 infantile Refsum disease ISO RGD:1322796 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:9536098|PMID:9837814 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:0050444 infantile Refsum disease ISO RGD:1322796 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: INFANTILE PHYTANIC ACID STORAGE DISEASE | ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:35106698|PMID:9536098|PMID:9837814 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, mut type PMID:25741868|PMID:28492532 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1322796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1322796 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11890679|PMID:12223482 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:0080483 peroxisome biogenesis disorder 8A ISO RGD:1322796 D RGD:7240710 20180130 OMIM 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:0080483 peroxisome biogenesis disorder 8A ISO RGD:1322796 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A (Zellweger) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder due to PEX16 defect PMID:11890679|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:9536098|PMID:9837814 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:1059 intellectual disability ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:10907 microcephaly ISO RGD:1322796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:630 genetic disease ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:9004875 Peroxisome Biogenesis Disorder 8B ISO RGD:1322796 D RGD:7240710 20180130 OMIM 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:9004875 Peroxisome Biogenesis Disorder 8B ISO RGD:1322796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8B PMID:20647552|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26633545|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:9006420 Zellweger Leukodystrophy ISO RGD:1322796 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:905 Zellweger syndrome ISO RGD:1322796 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:9536098|PMID:9837814 9011820 Pex16 peroxisomal biogenesis factor 16 gene DOID:905 Zellweger syndrome ISO RGD:1322796 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:11890679|PMID:16199547|PMID:17576681|PMID:20647552|PMID:20681997|PMID:24091540|PMID:25287621|PMID:25326635|PMID:25741868|PMID:27391121|PMID:28492532|PMID:30078639|PMID:31227335|PMID:35106698|PMID:9536098|PMID:9837814 9011843 Psmc2 proteasome 26S subunit, ATPase 2 gene DOID:0060902 Norman-Roberts syndrome ISO RGD:732979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 9011843 Psmc2 proteasome 26S subunit, ATPase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9011843 Psmc2 proteasome 26S subunit, ATPase 2 gene DOID:630 genetic disease ISO RGD:732979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011859 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:10763 hypertension ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 9011859 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:12849 autistic disorder ISO RGD:1343957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9011859 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:2986 IgA glomerulonephritis ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25305756 9011859 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:630 genetic disease ISO RGD:1343957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011859 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17909013 9011859 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:9002554 Tachycardia ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 9011859 Vav3 vav guanine nucleotide exchange factor 3 gene DOID:9006680 Hyperventilation ISO RGD:1343957 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 9011890 Nup133 nucleoporin 133 gene DOID:0080393 nephrotic syndrome type 18 ISO RGD:1317249 D RGD:7240710 20190315 OMIM 9011890 Nup133 nucleoporin 133 gene DOID:0080393 nephrotic syndrome type 18 ISO RGD:1317249 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 18 PMID:25741868|PMID:28492532|PMID:30179222 9011890 Nup133 nucleoporin 133 gene DOID:1540 parathyroid carcinoma ISO RGD:1317249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9011890 Nup133 nucleoporin 133 gene DOID:1826 epilepsy ISO RGD:1317249 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9011890 Nup133 nucleoporin 133 gene DOID:630 genetic disease ISO RGD:1317249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9011890 Nup133 nucleoporin 133 gene DOID:9005443 Galloway-Mowat Syndrome 8 ISO RGD:1317249 D RGD:7240710 20190315 OMIM 9011890 Nup133 nucleoporin 133 gene DOID:9005443 Galloway-Mowat Syndrome 8 ISO RGD:1317249 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 PMID:11793129|PMID:25741868|PMID:28492532|PMID:30427554 9011890 Nup133 nucleoporin 133 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1317249 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 9011890 Nup133 nucleoporin 133 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317249 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9011920 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1354337 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:28492532 9011920 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1354337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9011920 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9011920 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:1354337 D RGD:7240710 20180130 OMIM 9011920 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:0112045 non-syndromic X-linked intellectual disability 93 ISO RGD:1354337 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BRWD3-Related Disorder | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY | ClinVar Annotator: match by term: X-linked intellectual developmental disorder-93 PMID:17668385|PMID:18414213|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30628072|PMID:36414205|PMID:36937954|PMID:7943039 9011920 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:1059 intellectual disability ISO RGD:1354337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 9011920 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:12849 autistic disorder ISO RGD:1354337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9011920 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:630 genetic disease ISO RGD:1354337 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:21468892|PMID:25741868|PMID:28492532|PMID:9536098 9011920 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354337 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9011920 Brwd3 bromodomain and WD repeat domain containing 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1354337 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:36937954 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:0050848 obstructive sleep apnea ISO RGD:1352313 D RGD:9068941 20200609 RGD protein:increased expression:tonsil, T cell PMID:18490405|REF_RGD_ID:4888517 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1352313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:0060500 drug allergy ISO RGD:1352313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15970796 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1352313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481|PMID:20485159 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1352313 D RGD:9068941 20200609 RGD DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human) PMID:15970796|REF_RGD_ID:5144000 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:1059 intellectual disability ISO RGD:1352313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:10754 otitis media IEP D RGD:11553910|PMID:20433028 20161017 RGD 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:2841 asthma ISO RGD:1352313 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1220A>C (human) PMID:15454733|REF_RGD_ID:5144003 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:2841 asthma ISO RGD:1352313 D RGD:9068941 20200609 RGD DNA:polymorphism: :601A>G (human) PMID:15475736|REF_RGD_ID:5144002 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:1352313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15328359 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:732045 D RGD:9068941 20200609 RGD PMID:15328359|PMID:20497024|REF_RGD_ID:4781445|REF_RGD_ID:5143997 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:4483 rhinitis ISO RGD:1352313 D RGD:9068941 20200609 RGD associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium PMID:16689996|REF_RGD_ID:4783198 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:6039 uveal melanoma ISO RGD:1352313 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:27089179|PMID:33288675 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:630 genetic disease ISO RGD:1352313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:619797 D RGD:9068941 20210219 RGD mRNA, protein:increased expression:brain (rat) PMID:31933824|REF_RGD_ID:40903068 9011989 Cysltr2 cysteinyl leukotriene receptor 2 gene DOID:9004009 Reperfusion Injury ISO RGD:619797 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21664436|REF_RGD_ID:5144004 9011999 Dcun1d4 defective in cullin neddylation 1 domain containing 4 gene DOID:630 genetic disease ISO RGD:1604387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012039 Vwc2l von Willebrand factor C domain containing 2 like gene DOID:630 genetic disease ISO RGD:2859445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012039 Vwc2l von Willebrand factor C domain containing 2 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2859445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9012055 Plxdc2 plexin domain containing 2 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1314300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder 9012055 Plxdc2 plexin domain containing 2 gene DOID:630 genetic disease ISO RGD:1314300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012073 Ahr aryl hydrocarbon receptor gene DOID:0014667 disease of metabolism ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25768209 9012073 Ahr aryl hydrocarbon receptor gene DOID:0060041 autism spectrum disorder ISO RGD:731071 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9012073 Ahr aryl hydrocarbon receptor gene DOID:0060180 colitis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27783946 9012073 Ahr aryl hydrocarbon receptor gene DOID:0080011 bone resorption disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19934163 9012073 Ahr aryl hydrocarbon receptor gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 9012073 Ahr aryl hydrocarbon receptor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:731071 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35687267 9012073 Ahr aryl hydrocarbon receptor gene DOID:0112142 retinitis pigmentosa 85 ISO RGD:731071 D RGD:7240710 20190315 OMIM 9012073 Ahr aryl hydrocarbon receptor gene DOID:0112142 retinitis pigmentosa 85 ISO RGD:731071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 85 PMID:29726989 9012073 Ahr aryl hydrocarbon receptor gene DOID:10325 silicosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22273745 9012073 Ahr aryl hydrocarbon receptor gene DOID:10603 glucose intolerance ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31306034 9012073 Ahr aryl hydrocarbon receptor gene DOID:10763 hypertension ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 9012073 Ahr aryl hydrocarbon receptor gene DOID:10763 hypertension treatment ISO RGD:2074 D RGD:9068941 20230817 RGD associated with chronic intermittent hypoxia PMID:32416216|REF_RGD_ID:401793731 9012073 Ahr aryl hydrocarbon receptor gene DOID:10763 hypertension treatment ISO RGD:2074 D RGD:9068941 20230824 RGD PMID:23528973|PMID:30127255|PMID:31489946|REF_RGD_ID:401793709|REF_RGD_ID:401793732|REF_RGD_ID:401793758 9012073 Ahr aryl hydrocarbon receptor gene DOID:11355 bladder calculus ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22232670 9012073 Ahr aryl hydrocarbon receptor gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2074 D RGD:9068941 20230831 RGD PMID:19889059|REF_RGD_ID:401794453 9012073 Ahr aryl hydrocarbon receptor gene DOID:12336 male infertility ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21613234 9012073 Ahr aryl hydrocarbon receptor gene DOID:13241 Behcet's disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25045206 9012073 Ahr aryl hydrocarbon receptor gene DOID:14566 disease of cellular proliferation ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037238 9012073 Ahr aryl hydrocarbon receptor gene DOID:161 keratosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 9012073 Ahr aryl hydrocarbon receptor gene DOID:1682 congenital heart disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19261855 9012073 Ahr aryl hydrocarbon receptor gene DOID:178 vascular disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25482063 9012073 Ahr aryl hydrocarbon receptor gene DOID:1793 pancreatic cancer ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12203118|PMID:25826687 9012073 Ahr aryl hydrocarbon receptor gene DOID:1793 pancreatic cancer ISO RGD:731071 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12203118|REF_RGD_ID:2325664 9012073 Ahr aryl hydrocarbon receptor gene DOID:1936 atherosclerosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228805 9012073 Ahr aryl hydrocarbon receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:2074 D RGD:9068941 20230824 RGD PMID:32913241|REF_RGD_ID:401793747 9012073 Ahr aryl hydrocarbon receptor gene DOID:2529 splenic disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 9012073 Ahr aryl hydrocarbon receptor gene DOID:2773 contact dermatitis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9012073 Ahr aryl hydrocarbon receptor gene DOID:3138 acanthosis nigricans ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 9012073 Ahr aryl hydrocarbon receptor gene DOID:3310 atopic dermatitis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 9012073 Ahr aryl hydrocarbon receptor gene DOID:3910 lung adenocarcinoma ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12597446 9012073 Ahr aryl hydrocarbon receptor gene DOID:409 liver disease ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953|PMID:8692887 9012073 Ahr aryl hydrocarbon receptor gene DOID:4378 peanut allergy ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21804081 9012073 Ahr aryl hydrocarbon receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731071 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9012073 Ahr aryl hydrocarbon receptor gene DOID:5082 liver cirrhosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29416063 9012073 Ahr aryl hydrocarbon receptor gene DOID:552 pneumonia ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23337360 9012073 Ahr aryl hydrocarbon receptor gene DOID:630 genetic disease ISO RGD:731071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9012073 Ahr aryl hydrocarbon receptor gene DOID:6432 pulmonary hypertension ISO RGD:2074 D RGD:9068941 20240118 RGD 6-formylindolo[3,2-b]carbazole (FICZ)|semaxanib (CHEBI:91083) PMID:33836606|REF_RGD_ID:401940192 9012073 Ahr aryl hydrocarbon receptor gene DOID:6432 pulmonary hypertension ameliorates ISO RGD:2074 D RGD:9068941 20240118 RGD compared to wild type littermates PMID:33836606|REF_RGD_ID:401940192 9012073 Ahr aryl hydrocarbon receptor gene DOID:7148 rheumatoid arthritis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18617548 9012073 Ahr aryl hydrocarbon receptor gene DOID:784 chronic kidney disease ISO RGD:10127 D RGD:9068941 20230824 RGD mRNA, protein:increased expression:heart (mouse) PMID:31746392|REF_RGD_ID:401793746 9012073 Ahr aryl hydrocarbon receptor gene DOID:9000040 Hypertrophy ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 9012073 Ahr aryl hydrocarbon receptor gene DOID:9000217 Stomach Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12107286 9012073 Ahr aryl hydrocarbon receptor gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2074 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney cortex, kidney medulla, liver (rat) PMID:32416216|REF_RGD_ID:401793731 9012073 Ahr aryl hydrocarbon receptor gene DOID:9000310 Lung Injury ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25831079 9012073 Ahr aryl hydrocarbon receptor gene DOID:9000965 Neoplasm Metastasis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21948867 9012073 Ahr aryl hydrocarbon receptor gene DOID:9001009 Adult Pancreatic Cancer ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12203118 9012073 Ahr aryl hydrocarbon receptor gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:2074 D RGD:9068941 20230812 RGD associated with hypertension PMID:30127255|REF_RGD_ID:401793709 9012073 Ahr aryl hydrocarbon receptor gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:2074 D RGD:9068941 20230824 RGD PMID:31489946|REF_RGD_ID:401793758 9012073 Ahr aryl hydrocarbon receptor gene DOID:9001310 Tobacco Use Disorder ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25482063 9012073 Ahr aryl hydrocarbon receptor gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:731071 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:33836606 9012073 Ahr aryl hydrocarbon receptor gene DOID:9001820 Pulmonary Arterial Hypertension severity ISO RGD:731071 D RGD:9068941 20240118 RGD protein:increased activity:serum (human) PMID:33836606|REF_RGD_ID:401940192 9012073 Ahr aryl hydrocarbon receptor gene DOID:9001981 Weight Loss ISO RGD:731071 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34848246 9012073 Ahr aryl hydrocarbon receptor gene DOID:9002170 Experimental Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9496914 9012073 Ahr aryl hydrocarbon receptor gene DOID:9002304 Prostatic Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20140206 9012073 Ahr aryl hydrocarbon receptor gene DOID:9002457 Experimental Arthritis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25194622 9012073 Ahr aryl hydrocarbon receptor gene DOID:9002554 Tachycardia ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 9012073 Ahr aryl hydrocarbon receptor gene DOID:9002720 Splenomegaly ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8692887 9012073 Ahr aryl hydrocarbon receptor gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:2074 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 9012073 Ahr aryl hydrocarbon receptor gene DOID:9003281 Spontaneous Abortions ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26593447 9012073 Ahr aryl hydrocarbon receptor gene DOID:9003370 Dyslipidemias ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21890736 9012073 Ahr aryl hydrocarbon receptor gene DOID:9003753 Ureteral Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19755661 9012073 Ahr aryl hydrocarbon receptor gene DOID:9003936 Cardiomegaly ISO RGD:10127 D RGD:9068941 20230810 RGD PMID:12665660|REF_RGD_ID:401784499 9012073 Ahr aryl hydrocarbon receptor gene DOID:9003936 Cardiomegaly ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24247421 9012073 Ahr aryl hydrocarbon receptor gene DOID:9003936 Cardiomegaly treatment ISO RGD:2074 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 9012073 Ahr aryl hydrocarbon receptor gene DOID:9003984 Hyperpigmentation ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28029781 9012073 Ahr aryl hydrocarbon receptor gene DOID:9003996 Birth Weight ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27592400 9012073 Ahr aryl hydrocarbon receptor gene DOID:9004462 Atrophy ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953|PMID:7826670 9012073 Ahr aryl hydrocarbon receptor gene DOID:9004575 Neoplasm Invasiveness ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25826687|PMID:27752740 9012073 Ahr aryl hydrocarbon receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14644620|PMID:31016362 9012073 Ahr aryl hydrocarbon receptor gene DOID:9004657 Weight Gain ISO RGD:731071 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:27020609|PMID:30813227|PMID:31306034|PMID:36029422 9012073 Ahr aryl hydrocarbon receptor gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731071 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:34801851 9012073 Ahr aryl hydrocarbon receptor gene DOID:9004980 Chronobiology Disorders ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23291558 9012073 Ahr aryl hydrocarbon receptor gene DOID:9005099 Salmonella Infections, Animal severity ISO RGD:10127 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 9012073 Ahr aryl hydrocarbon receptor gene DOID:9005369 Hepatomegaly ISO RGD:731071 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:26278112|PMID:28487374|PMID:33607186|PMID:34848246 9012073 Ahr aryl hydrocarbon receptor gene DOID:9005372 Inflammation ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22273745|PMID:25768209 9012073 Ahr aryl hydrocarbon receptor gene DOID:9005749 Necrosis ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25831079 9012073 Ahr aryl hydrocarbon receptor gene DOID:9005930 Endotoxemia severity ISO RGD:10127 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 9012073 Ahr aryl hydrocarbon receptor gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced treatment ISO RGD:2074 D RGD:9068941 20240118 RGD PMID:33836606|REF_RGD_ID:401940192 9012073 Ahr aryl hydrocarbon receptor gene DOID:9006202 Pruritus ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 9012073 Ahr aryl hydrocarbon receptor gene DOID:9006205 Animal Disease Models ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 9012073 Ahr aryl hydrocarbon receptor gene DOID:9006257 Growth Disorders ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961953 9012073 Ahr aryl hydrocarbon receptor gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:2074 D RGD:9068941 20230831 RGD PMID:23644946|REF_RGD_ID:401794573 9012073 Ahr aryl hydrocarbon receptor gene DOID:9006680 Hyperventilation ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21115475 9012073 Ahr aryl hydrocarbon receptor gene DOID:9007174 Ventricular Remodeling ISO RGD:2074 D RGD:9068941 20230826 RGD associated with diesel exhaust particulates exposure; protein:increased expression:heart left ventricle (rat) PMID:23887904|REF_RGD_ID:401794424 9012073 Ahr aryl hydrocarbon receptor gene DOID:9007188 Liver Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19996281|PMID:30346592 9012073 Ahr aryl hydrocarbon receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:2074 D RGD:9068941 20230831 RGD mRNA:decreased expression:liver (rat) PMID:28959666|REF_RGD_ID:401794432 9012073 Ahr aryl hydrocarbon receptor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731071 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21890736|PMID:34848246 9012073 Ahr aryl hydrocarbon receptor gene DOID:9007456 Female Infertility ISO RGD:731071 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36029422 9012073 Ahr aryl hydrocarbon receptor gene DOID:9007480 Hyperoxia ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23337360 9012073 Ahr aryl hydrocarbon receptor gene DOID:9007692 Insulin Resistance ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25734695 9012073 Ahr aryl hydrocarbon receptor gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2074 D RGD:9068941 20230824 RGD PMID:22079846|REF_RGD_ID:401794136 9012073 Ahr aryl hydrocarbon receptor gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2074 D RGD:9068941 20230812 RGD PMID:35788946|REF_RGD_ID:401793705 9012073 Ahr aryl hydrocarbon receptor gene DOID:9008616 Patent Ductus Venosus ISO RGD:731071 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:36029422 9012073 Ahr aryl hydrocarbon receptor gene DOID:9008939 Breast Neoplasms ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21515334|PMID:22296396 9012073 Ahr aryl hydrocarbon receptor gene DOID:9649 congenital nystagmus ISO RGD:10127 D RGD:9068941 20220825 MouseDO OMIM:164100 | OMIM:193003 | OMIM:300589 | OMIM:300814 | OMIM:608345 | OMIM:614826 9012073 Ahr aryl hydrocarbon receptor gene DOID:9649 congenital nystagmus ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23301081 9012073 Ahr aryl hydrocarbon receptor gene DOID:9970 obesity ISO RGD:731071 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27020609|PMID:30813227|PMID:31306034 9012073 Ahr aryl hydrocarbon receptor gene DOID:9993 hypoglycemia ISO RGD:731071 D RGD:9068941 20220609 CTD CTD Direct Evidence: therapeutic PMID:34848246 9012088 Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:0060546 Hermansky-Pudlak syndrome 8 ISO RGD:1321173 D RGD:7240710 20180130 OMIM 9012088 Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:0060546 Hermansky-Pudlak syndrome 8 ISO RGD:1321173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8 PMID:16385460|PMID:22709368|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29345414 9012088 Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1321173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9012088 Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321173 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:25741868|PMID:28492532|PMID:31064749 9012088 Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 gene DOID:630 genetic disease ISO RGD:1321173 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:0060041 autism spectrum disorder ISO RGD:737453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:0060485 Mowat-Wilson syndrome ISO RGD:737453 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome PMID:25741868 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:0060870 isolated growth hormone deficiency ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:0070058 Helsmoortel-Van Der Aa syndrome ISO RGD:737453 D RGD:7240710 20180130 OMIM 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:0070058 Helsmoortel-Van Der Aa syndrome ISO RGD:737453 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Helsmoortel-Van der Aa Syndrome PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25169753|PMID:25217958|PMID:25363760|PMID:25533962|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28191890|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28675391|PMID:28708303|PMID:29475819|PMID:29724491|PMID:29911927|PMID:30106381|PMID:30564305|PMID:30687093|PMID:31029150|PMID:33004838|PMID:33624935|PMID:35887114 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:0080074 neural tube defect ISO RGD:737454 D RGD:9068941 20200609 RGD PMID:15886480|REF_RGD_ID:2312793 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:0080557 congenital disorder of glycosylation Ie ISO RGD:737453 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E PMID:10642597|PMID:10642602|PMID:28492532 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:1059 intellectual disability ISO RGD:737453 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28708303|PMID:29724491|PMID:29911927 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:10652 Alzheimer's disease ISO RGD:737454 D RGD:9068941 20200609 RGD PMID:17720885|PMID:18199809|REF_RGD_ID:2312791|REF_RGD_ID:2312792 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:10907 microcephaly ISO RGD:737453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:12849 autistic disorder ISO RGD:737453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, severe PMID:25741868 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:1289 neurodegenerative disease ISO RGD:737454 D RGD:9068941 20200609 RGD PMID:10037502|REF_RGD_ID:2312794 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:1459 hypothyroidism ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:1826 epilepsy ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:2303 stereotypic movement disorder ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stereotypic movement disorder PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:326 ischemia ISO RGD:71030 D RGD:9068941 20200609 RGD PMID:18414890|REF_RGD_ID:2312783 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:3454 brain infarction ISO RGD:71030 D RGD:9068941 20200609 RGD PMID:11935065|REF_RGD_ID:1358226 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:630 genetic disease ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:26637798|PMID:27031564|PMID:28135719|PMID:28191890|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28675391|PMID:28708303|PMID:29475819|PMID:29724491|PMID:29911927|PMID:31029150|PMID:33004838 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:71030 D RGD:9068941 20200609 RGD PMID:16938277|REF_RGD_ID:2312775 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28708303|PMID:29724491|PMID:29911927 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:9007621 Craniocerebral Trauma ISO RGD:737454 D RGD:9068941 20200609 RGD PMID:11123362|REF_RGD_ID:2312784 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:9008086 Developmental Disabilities ISO RGD:737453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24531329|PMID:25741868|PMID:27031564|PMID:28135719|PMID:28221363|PMID:28492532|PMID:29475819|PMID:29724491|PMID:29911927|PMID:33004838 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:9008091 Optic Nerve Injuries ISO RGD:71030 D RGD:9068941 20200609 RGD PMID:18414890|REF_RGD_ID:2312783 9012098 Adnp activity dependent neuroprotector homeobox gene DOID:9008582 Developmental Disease ISO RGD:737453 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9012127 Ccdc85b coiled-coil domain containing 85B gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1605406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 9012127 Ccdc85b coiled-coil domain containing 85B gene DOID:1059 intellectual disability ISO RGD:1605406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9012127 Ccdc85b coiled-coil domain containing 85B gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9012127 Ccdc85b coiled-coil domain containing 85B gene DOID:2746 glycogen storage disease V ISO RGD:1605406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9012127 Ccdc85b coiled-coil domain containing 85B gene DOID:630 genetic disease ISO RGD:1605406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012127 Ccdc85b coiled-coil domain containing 85B gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1605406 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9012127 Ccdc85b coiled-coil domain containing 85B gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1605406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:0060058 lymphoma ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19075289 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:0060180 colitis ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:20833794|REF_RGD_ID:6483551 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:10652 Alzheimer's disease ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:22044482|REF_RGD_ID:6483525 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:11476 osteoporosis treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:16442794|REF_RGD_ID:10043381 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:12387 nephrogenic diabetes insipidus treatment ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:19729836|REF_RGD_ID:10003043 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:12510 retinal ischemia ISO RGD:628641 D RGD:9068941 20200609 RGD protein:decreased expression:retina (rat) PMID:12821538|REF_RGD_ID:9850261 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:732089 D RGD:9068941 20220825 MouseDO 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:13832 patent ductus arteriosus ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:9600059|REF_RGD_ID:10003086 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:1679 cystitis ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:20860016|REF_RGD_ID:5147913 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:1876 sexual dysfunction ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18726914 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:224 transient cerebral ischemia ISO RGD:628641 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:16437207|REF_RGD_ID:10043375 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:2349 arteriosclerosis ISO RGD:736498 D RGD:9068941 20200609 RGD PMID:16020747|REF_RGD_ID:1581284 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:289 endometriosis ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19407222 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:3021 acute kidney failure treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:16871242|REF_RGD_ID:10003092 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:3627 aortic aneurysm ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:22570740|REF_RGD_ID:6483518 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:3627 aortic aneurysm ISO RGD:736498 D RGD:9068941 20200609 RGD PMID:22570740|REF_RGD_ID:6483518 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:5119 ovarian cyst ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:630 genetic disease ISO RGD:736498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:7147 ankylosing spondylitis ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:7147 ankylosing spondylitis ISO RGD:736498 D RGD:9068941 20200609 RGD PMID:21743469|REF_RGD_ID:6483530 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:783 end stage renal disease treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:16871242|REF_RGD_ID:10003092 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:820 myocarditis resistance ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:21383594|REF_RGD_ID:6483535 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:8577 ulcerative colitis ISO RGD:736498 D RGD:9068941 20200609 RGD PMID:21818367|REF_RGD_ID:6483532 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9000099 Experimental Colitis treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:12100473|REF_RGD_ID:727388 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9001048 Nociceptive Pain ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:21371033|REF_RGD_ID:6483537 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9001341 Chloracne ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9002211 Hyperalgesia treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:20423341|REF_RGD_ID:10003041 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18287210 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis disease_progression ISO RGD:628641 D RGD:9068941 20200609 RGD mRNA:increased expression:tarsal joint, synovium (rat) PMID:11207665|REF_RGD_ID:10043377 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:18287210|REF_RGD_ID:10003052 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:20423341|REF_RGD_ID:10003041 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9002910 Hearing Loss, Noise-Induced resistance ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:22198478|REF_RGD_ID:6483524 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:11917107|REF_RGD_ID:10003045 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9005372 Inflammation ISO RGD:736498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18287210 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9005372 Inflammation treatment ISO RGD:628641 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:18498708|REF_RGD_ID:10043613 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9005930 Endotoxemia ISO RGD:628641 D RGD:9068941 20200609 RGD protein:increased expression:paraventricular hypothalamic nucleus parvicellular division (rat) PMID:11058222|REF_RGD_ID:10043329 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9006024 Hypotension ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:15201706|REF_RGD_ID:1581283 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9006937 NSAID-Enteropathy treatment ISO RGD:628641 D RGD:9068941 20200609 RGD PMID:11991626|REF_RGD_ID:10003093 9012143 Ptger4 prostaglandin E receptor 4 gene DOID:9007096 Stroke ISO RGD:732089 D RGD:9068941 20200609 RGD PMID:21965326|REF_RGD_ID:6483526 9012162 Ttll11 tubulin tyrosine ligase like 11 gene DOID:630 genetic disease ISO RGD:1322671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012176 Pwwp2b PWWP domain containing 2B gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1316105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 9012176 Pwwp2b PWWP domain containing 2B gene DOID:11612 polycystic ovary syndrome ISO RGD:1316105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9012176 Pwwp2b PWWP domain containing 2B gene DOID:630 genetic disease ISO RGD:1316105 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012187 Rab6b RAB6B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1320580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012187 Rab6b RAB6B, member RAS oncogene family gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:0060179 Renpenning syndrome ISO RGD:1604644 D RGD:7240710 20180130 OMIM 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:0060179 Renpenning syndrome ISO RGD:1604644 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renpenning syndrome PMID:13981686|PMID:14634649|PMID:15024694|PMID:15355434|PMID:15782410|PMID:16199547|PMID:16493439|PMID:16740914|PMID:20410308|PMID:20950397|PMID:21267006|PMID:21315190|PMID:21836667|PMID:24088041|PMID:24781215|PMID:25326635|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26633545|PMID:28492532|PMID:30143497|PMID:31230720|PMID:32041777|PMID:32903913|PMID:33668121|PMID:34470565|PMID:6711604|PMID:9545405 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1604644 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:1059 intellectual disability ISO RGD:1604644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25167861|PMID:25741868|PMID:28492532 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:10907 microcephaly ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:15024694|PMID:16740914 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:12849 autistic disorder ISO RGD:1604644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:1882 atrial heart septal defect ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16740914 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:630 genetic disease ISO RGD:1604644 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21267006|PMID:24781215|PMID:25741868|PMID:28492532|PMID:30143497|PMID:31230720|PMID:33668121 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:15024694 9012201 Pqbp1 polyglutamine binding protein 1 gene DOID:9006257 Growth Disorders ISO RGD:1604644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14634649|PMID:16740914 9012219 Abr ABR activator of RhoGEF and GTPase gene DOID:0060432 chromosome 17p13.3 duplication syndrome ISO RGD:1314808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome PMID:21681106 9012219 Abr ABR activator of RhoGEF and GTPase gene DOID:630 genetic disease ISO RGD:1314808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012219 Abr ABR activator of RhoGEF and GTPase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1314808 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 9012261 Rnf11 ring finger protein 11 gene DOID:630 genetic disease ISO RGD:1314582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012268 Ghsr growth hormone secretagogue receptor gene DOID:0050848 obstructive sleep apnea ISO RGD:621397 D RGD:9068941 20200609 RGD protein:decreased expression:growth plate: PMID:26943473|REF_RGD_ID:11573409 9012268 Ghsr growth hormone secretagogue receptor gene DOID:0060870 isolated growth hormone deficiency ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA:increased expression:pituitary: PMID:9822798|REF_RGD_ID:12904721 9012268 Ghsr growth hormone secretagogue receptor gene DOID:1062 Fanconi syndrome ISO RGD:730941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 9012268 Ghsr growth hormone secretagogue receptor gene DOID:10763 hypertension ISO RGD:737310 D RGD:9068941 20200609 RGD associated with Obesity PMID:24760503|REF_RGD_ID:12910115 9012268 Ghsr growth hormone secretagogue receptor gene DOID:1574 alcohol use disorder ISO RGD:730941 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23977009 9012268 Ghsr growth hormone secretagogue receptor gene DOID:1824 status epilepticus ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus: PMID:23129314|REF_RGD_ID:12907502 9012268 Ghsr growth hormone secretagogue receptor gene DOID:224 transient cerebral ischemia ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:17560544|REF_RGD_ID:12907500 9012268 Ghsr growth hormone secretagogue receptor gene DOID:3125 multiple endocrine neoplasia ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:26512025|REF_RGD_ID:12904888 9012268 Ghsr growth hormone secretagogue receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:19352052|REF_RGD_ID:9850083 9012268 Ghsr growth hormone secretagogue receptor gene DOID:630 genetic disease ISO RGD:730941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:19789204|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:25261791|REF_RGD_ID:12907564 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9002231 Fetal Growth Retardation disease_progression ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:20637157|REF_RGD_ID:12904883 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:21642627|REF_RGD_ID:12904963 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9003139 Cardiac Fibrosis ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:myocardia: PMID:16626506|REF_RGD_ID:12907503 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9004351 Digestive System Neoplasms ISO RGD:730941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18064392 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9004484 Sepsis disease_progression ISO RGD:621397 D RGD:9068941 20200609 RGD PMID:15155262|REF_RGD_ID:12905047 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA:increased expression:Arcuate nucleus : PMID:23965296|REF_RGD_ID:12905048 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9006324 Isolated Growth Hormone Deficiency, Partial ISO RGD:730941 D RGD:7240710 20200122 OMIM 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9006324 Isolated Growth Hormone Deficiency, Partial ISO RGD:730941 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:19789204|PMID:21084395|PMID:21646290|PMID:24651458|PMID:25557026|PMID:25741868|PMID:26094658|PMID:28492532|PMID:31726455|PMID:34849273 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:621397 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:myocardia: PMID:16626506|REF_RGD_ID:12907503 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9007303 Idiopathic Short Stature, Autosomal ISO RGD:730941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, idiopathic, autosomal 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9007661 Dwarfism ISO RGD:730941 D RGD:9068941 20200609 RGD PMID:7968381|REF_RGD_ID:12910126 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9007661 Dwarfism ISO RGD:730941 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:21084395|REF_RGD_ID:12904884 9012268 Ghsr growth hormone secretagogue receptor gene DOID:9970 obesity ISO RGD:730941 D RGD:9068941 20200609 RGD DNA:point mutation:exon:F279L PMID:16511600|REF_RGD_ID:1625270 9012275 Tmem222 transmembrane protein 222 gene DOID:630 genetic disease ISO RGD:1604776 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012275 Tmem222 transmembrane protein 222 gene DOID:9002095 NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES ISO RGD:1604776 D RGD:7240710 20211027 OMIM 9012275 Tmem222 transmembrane protein 222 gene DOID:9002095 NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES ISO RGD:1604776 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities PMID:33824500 9012290 Gle1 GLE1 RNA export mediator gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9012290 Gle1 GLE1 RNA export mediator gene DOID:0060558 lethal congenital contracture syndrome ISO RGD:1316460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9012290 Gle1 GLE1 RNA export mediator gene DOID:0060559 lethal congenital contracture syndrome 1 ISO RGD:1316460 D RGD:7240710 20180130 OMIM 9012290 Gle1 GLE1 RNA export mediator gene DOID:0060559 lethal congenital contracture syndrome 1 ISO RGD:1316460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal autosomal recessive syndrome of multiple congenital contractures | ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1 PMID:16892327|PMID:18204449|PMID:24243016|PMID:24961629|PMID:25741868|PMID:28492532|PMID:28884921|PMID:29899397|PMID:32954510|PMID:7770128 9012290 Gle1 GLE1 RNA export mediator gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9012290 Gle1 GLE1 RNA export mediator gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9012290 Gle1 GLE1 RNA export mediator gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316460 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:25741868|PMID:28884921 9012290 Gle1 GLE1 RNA export mediator gene DOID:630 genetic disease ISO RGD:1316460 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18204449|PMID:24961629|PMID:25741868|PMID:28492532|PMID:28884921|PMID:29899397|PMID:32954510 9012290 Gle1 GLE1 RNA export mediator gene DOID:9003573 Congenital Arthrogryposis with Anterior Horn Cell Disease ISO RGD:1316460 D RGD:7240710 20180130 OMIM 9012290 Gle1 GLE1 RNA export mediator gene DOID:9003573 Congenital Arthrogryposis with Anterior Horn Cell Disease ISO RGD:1316460 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease PMID:16892327|PMID:18204449|PMID:22484600|PMID:24243016|PMID:24961629|PMID:24970098|PMID:25741868|PMID:27684565|PMID:28492532|PMID:28657126|PMID:28884921|PMID:29899397|PMID:32537934|PMID:32954510|PMID:33726816|PMID:33820833|PMID:34490615|PMID:7770128 9012315 Tlr4 toll like receptor 4 gene DOID:0050073 invasive aspergillosis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D299G(human) PMID:18275280|REF_RGD_ID:5130863 9012315 Tlr4 toll like receptor 4 gene DOID:0050127 sinusitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:nasal cavity epithelium: PMID:14743629|REF_RGD_ID:8552991 9012315 Tlr4 toll like receptor 4 gene DOID:0050127 sinusitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Pneumococal Infections; PMID:16301373|REF_RGD_ID:7800729 9012315 Tlr4 toll like receptor 4 gene DOID:0050855 renal fibrosis ISO RGD:3870 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:22777483|REF_RGD_ID:7207895 9012315 Tlr4 toll like receptor 4 gene DOID:0060180 colitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:19002562|REF_RGD_ID:2312573 9012315 Tlr4 toll like receptor 4 gene DOID:0060180 colitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19924809|REF_RGD_ID:7794773 9012315 Tlr4 toll like receptor 4 gene DOID:0060189 ileitis ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:18266231|REF_RGD_ID:2312714 9012315 Tlr4 toll like receptor 4 gene DOID:0060189 ileitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17255219|REF_RGD_ID:7241089 9012315 Tlr4 toll like receptor 4 gene DOID:0060322 mastoiditis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 9012315 Tlr4 toll like receptor 4 gene DOID:0060496 respiratory allergy ISO RGD:737013 D RGD:9068941 20200827 CTD CTD Direct Evidence: marker/mechanism PMID:10835634 9012315 Tlr4 toll like receptor 4 gene DOID:0060496 respiratory allergy susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype: :−2027A>G, ¿1608T>C(human) PMID:21704886|REF_RGD_ID:7800728 9012315 Tlr4 toll like receptor 4 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea: PMID:17667620|REF_RGD_ID:8552970 9012315 Tlr4 toll like receptor 4 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17686871|REF_RGD_ID:7794851 9012315 Tlr4 toll like receptor 4 gene DOID:0080176 meningococcal meningitis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP,haplotype: :896A>G(rs4986790)(human) PMID:23691182|REF_RGD_ID:7800668 9012315 Tlr4 toll like receptor 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:23301938|REF_RGD_ID:7777122 9012315 Tlr4 toll like receptor 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:22253482|REF_RGD_ID:14700656 9012315 Tlr4 toll like receptor 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:25413054|REF_RGD_ID:14700658 9012315 Tlr4 toll like receptor 4 gene DOID:0080600 COVID-19 ISO RGD:737013 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:10835634|PMID:12124407|PMID:15547160|PMID:15829498|PMID:16879199|PMID:17704786|PMID:26079505|PMID:26174031 9012315 Tlr4 toll like receptor 4 gene DOID:0080784 urinary tract infection susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:snp:cds:p.D299G (human) PMID:19543401|REF_RGD_ID:7246906 9012315 Tlr4 toll like receptor 4 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16524509|REF_RGD_ID:2312724 9012315 Tlr4 toll like receptor 4 gene DOID:0081013 severe COVID-19 ISO RGD:737013 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 9012315 Tlr4 toll like receptor 4 gene DOID:10140 dry eye syndrome ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:23372055|REF_RGD_ID:8552916 9012315 Tlr4 toll like receptor 4 gene DOID:10140 dry eye syndrome ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:23372055|REF_RGD_ID:8552916 9012315 Tlr4 toll like receptor 4 gene DOID:10223 dermatomyositis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle PMID:19953283|REF_RGD_ID:7794747 9012315 Tlr4 toll like receptor 4 gene DOID:10310 viral meningitis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 9012315 Tlr4 toll like receptor 4 gene DOID:10591 pre-eclampsia ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:16157088|REF_RGD_ID:1580682 9012315 Tlr4 toll like receptor 4 gene DOID:106 pleural tuberculosis ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:18295348|REF_RGD_ID:4144193 9012315 Tlr4 toll like receptor 4 gene DOID:10652 Alzheimer's disease ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:16157451|REF_RGD_ID:1580680 9012315 Tlr4 toll like receptor 4 gene DOID:10690 mastitis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mammary gland: PMID:21691936|REF_RGD_ID:7777124 9012315 Tlr4 toll like receptor 4 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:multiple: PMID:22831837|REF_RGD_ID:7794768 9012315 Tlr4 toll like receptor 4 gene DOID:1074 kidney failure ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:16177646|REF_RGD_ID:7241085 9012315 Tlr4 toll like receptor 4 gene DOID:1074 kidney failure ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585667 9012315 Tlr4 toll like receptor 4 gene DOID:10754 otitis media ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:middle ear: PMID:23380629|REF_RGD_ID:7800666 9012315 Tlr4 toll like receptor 4 gene DOID:10754 otitis media ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 9012315 Tlr4 toll like receptor 4 gene DOID:10754 otitis media ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Haemophilus Infections; PMID:19586996|REF_RGD_ID:7777086 9012315 Tlr4 toll like receptor 4 gene DOID:10763 hypertension ISO RGD:737013 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:27292124|PMID:32147540 9012315 Tlr4 toll like receptor 4 gene DOID:10825 essential hypertension ISO RGD:737013 D RGD:9068941 20221110 CTD CTD Direct Evidence: marker/mechanism PMID:34453990 9012315 Tlr4 toll like receptor 4 gene DOID:10964 cholesteatoma of middle ear ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of middle ear,skin of ear canal: PMID:24690988|REF_RGD_ID:8552995 9012315 Tlr4 toll like receptor 4 gene DOID:11054 urinary bladder cancer treatment ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19788935|REF_RGD_ID:7240556 9012315 Tlr4 toll like receptor 4 gene DOID:11121 pulpitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:ganglion: PMID:24267924|REF_RGD_ID:7777125 9012315 Tlr4 toll like receptor 4 gene DOID:11168 anogenital venereal wart ISO RGD:737013 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 9012315 Tlr4 toll like receptor 4 gene DOID:11204 allergic conjunctivitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:conjunctiva: PMID:16023216|REF_RGD_ID:7794849 9012315 Tlr4 toll like receptor 4 gene DOID:11204 allergic conjunctivitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21391988|PMID:21820713|REF_RGD_ID:7777131|REF_RGD_ID:7794770 9012315 Tlr4 toll like receptor 4 gene DOID:11396 pulmonary edema ISO RGD:737014 D RGD:9068941 20200609 RGD associated with reperfusion injury PMID:19376887|REF_RGD_ID:4144136 9012315 Tlr4 toll like receptor 4 gene DOID:11446 sciatic neuropathy ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord: PMID:18615568|REF_RGD_ID:7815041 9012315 Tlr4 toll like receptor 4 gene DOID:11506 suppurative otitis media ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mucosa: PMID:22883581|REF_RGD_ID:7800662 9012315 Tlr4 toll like receptor 4 gene DOID:11823 hepatorenal syndrome ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18093430|REF_RGD_ID:4144102 9012315 Tlr4 toll like receptor 4 gene DOID:1214 tympanosclerosis ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:D299G(human) PMID:19398177|REF_RGD_ID:7800656 9012315 Tlr4 toll like receptor 4 gene DOID:12306 vitiligo susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D299G(human) PMID:22429552|REF_RGD_ID:7777152 9012315 Tlr4 toll like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs:cds:p.D299G, T399I (human) PMID:17709532|REF_RGD_ID:4144161 9012315 Tlr4 toll like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19019963|REF_RGD_ID:4889534 9012315 Tlr4 toll like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.D299G (human) PMID:17449325|REF_RGD_ID:4144164 9012315 Tlr4 toll like receptor 4 gene DOID:1273 respiratory syncytial virus infectious disease susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D259G, T359I (human) PMID:17264400|REF_RGD_ID:4144167 9012315 Tlr4 toll like receptor 4 gene DOID:13001 carotid stenosis treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22167462|REF_RGD_ID:7241095 9012315 Tlr4 toll like receptor 4 gene DOID:13078 eumycotic mycetoma ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:decreased expression:footpad: PMID:21205004|REF_RGD_ID:7794752 9012315 Tlr4 toll like receptor 4 gene DOID:13141 uveitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:iris PMID:19347047|REF_RGD_ID:2312506 9012315 Tlr4 toll like receptor 4 gene DOID:13241 Behcet's disease ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine: PMID:18336589|REF_RGD_ID:8552915 9012315 Tlr4 toll like receptor 4 gene DOID:13241 Behcet's disease ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:mononulcear cell: PMID:18234118|REF_RGD_ID:7777175 9012315 Tlr4 toll like receptor 4 gene DOID:13241 Behcet's disease no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :1896A>G,11196C>T(human) PMID:19796535|REF_RGD_ID:8552888 9012315 Tlr4 toll like receptor 4 gene DOID:13241 Behcet's disease susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:3'UTR: rs7037117(human) PMID:18408113|REF_RGD_ID:7777176 9012315 Tlr4 toll like receptor 4 gene DOID:13375 temporal arteritis no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :896A>G,1196C>T(human) PMID:21586524|REF_RGD_ID:7777159 9012315 Tlr4 toll like receptor 4 gene DOID:13375 temporal arteritis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :896A>G(rs4986790)(human) PMID:19531762|REF_RGD_ID:7777158 9012315 Tlr4 toll like receptor 4 gene DOID:13378 Kawasaki disease ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:monocyte: PMID:18353240|REF_RGD_ID:7777156 9012315 Tlr4 toll like receptor 4 gene DOID:13544 low tension glaucoma no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple: PMID:21921986|REF_RGD_ID:7794769 9012315 Tlr4 toll like receptor 4 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism,haplotype:multiple: PMID:22831837|REF_RGD_ID:7794768 9012315 Tlr4 toll like receptor 4 gene DOID:13619 extrahepatic cholestasis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 9012315 Tlr4 toll like receptor 4 gene DOID:13641 exfoliation syndrome susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:haplotype:: PMID:22831837|REF_RGD_ID:7794768 9012315 Tlr4 toll like receptor 4 gene DOID:1407 anterior uveitis ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:17389503|REF_RGD_ID:8552823 9012315 Tlr4 toll like receptor 4 gene DOID:1407 anterior uveitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21264236|REF_RGD_ID:7794836 9012315 Tlr4 toll like receptor 4 gene DOID:14484 sporotrichosis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19740386|REF_RGD_ID:7794681 9012315 Tlr4 toll like receptor 4 gene DOID:1485 cystic fibrosis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:20717938|REF_RGD_ID:4144105 9012315 Tlr4 toll like receptor 4 gene DOID:1485 cystic fibrosis severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20522639|REF_RGD_ID:4144179 9012315 Tlr4 toll like receptor 4 gene DOID:1495 cystic echinococcosis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood monocyte: PMID:21923667|REF_RGD_ID:18182935 9012315 Tlr4 toll like receptor 4 gene DOID:1612 breast cancer no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :c.896A>G(human) PMID:19810822|REF_RGD_ID:7794746 9012315 Tlr4 toll like receptor 4 gene DOID:1612 breast cancer susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :3725G>C(human) PMID:23510418|REF_RGD_ID:7777160 9012315 Tlr4 toll like receptor 4 gene DOID:1612 breast cancer susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.N299G(human) PMID:22560646|REF_RGD_ID:7794753 9012315 Tlr4 toll like receptor 4 gene DOID:1749 squamous cell carcinoma ISO RGD:737013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 9012315 Tlr4 toll like receptor 4 gene DOID:1909 melanoma ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 9012315 Tlr4 toll like receptor 4 gene DOID:1909 melanoma ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:exons:p.D299G (896A>G)(human;) PMID:22552381|REF_RGD_ID:7777154 9012315 Tlr4 toll like receptor 4 gene DOID:1936 atherosclerosis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12124407 9012315 Tlr4 toll like receptor 4 gene DOID:2297 leptospirosis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16428731|PMID:19635914|REF_RGD_ID:7240557|REF_RGD_ID:7241090 9012315 Tlr4 toll like receptor 4 gene DOID:2316 brain ischemia no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.N299G, p.T399I (human) PMID:15258789|REF_RGD_ID:1580737 9012315 Tlr4 toll like receptor 4 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :c.896A>G (human) PMID:16890863|REF_RGD_ID:1624159 9012315 Tlr4 toll like receptor 4 gene DOID:2377 multiple sclerosis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebrospinal fluid, mononuclear cell PMID:18644848|REF_RGD_ID:2312575 9012315 Tlr4 toll like receptor 4 gene DOID:2773 contact dermatitis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725520 9012315 Tlr4 toll like receptor 4 gene DOID:2841 asthma ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs:: PMID:20685742|REF_RGD_ID:4144171 9012315 Tlr4 toll like receptor 4 gene DOID:2841 asthma ISO RGD:737013 D RGD:9068941 20200609 RGD protein:decreased expression:leukocytes, mononuclear PMID:19067129|REF_RGD_ID:4144190 9012315 Tlr4 toll like receptor 4 gene DOID:2841 asthma ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19330007|PMID:20628601|REF_RGD_ID:4144141|REF_RGD_ID:4144176 9012315 Tlr4 toll like receptor 4 gene DOID:2841 asthma no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10983755, rs1927914 (human) PMID:19159017|REF_RGD_ID:4144188 9012315 Tlr4 toll like receptor 4 gene DOID:2841 asthma severity ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:c.896A>G, 1196C>T (human) PMID:16266379|REF_RGD_ID:4144198 9012315 Tlr4 toll like receptor 4 gene DOID:2841 asthma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:Polymorphism:cds:p.D299G (human) PMID:15356557|REF_RGD_ID:4144817 9012315 Tlr4 toll like receptor 4 gene DOID:2913 acute pancreatitis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:18436016|REF_RGD_ID:14697701 9012315 Tlr4 toll like receptor 4 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 9012315 Tlr4 toll like receptor 4 gene DOID:2921 glomerulonephritis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16849506|PMID:20844472|REF_RGD_ID:4144104|REF_RGD_ID:7241071 9012315 Tlr4 toll like receptor 4 gene DOID:2957 pulmonary tuberculosis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:18008256|REF_RGD_ID:4144205 9012315 Tlr4 toll like receptor 4 gene DOID:2957 pulmonary tuberculosis severity ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds: p. D299F, T399I (human) PMID:20403143|REF_RGD_ID:4144106 9012315 Tlr4 toll like receptor 4 gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:intron: rs5030729 (human) PMID:19575238|REF_RGD_ID:4144122 9012315 Tlr4 toll like receptor 4 gene DOID:2987 familial mediterranean fever susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D299G(human) PMID:19445990|REF_RGD_ID:7794686 9012315 Tlr4 toll like receptor 4 gene DOID:3021 acute kidney failure ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 9012315 Tlr4 toll like receptor 4 gene DOID:3021 acute kidney failure ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16638912|REF_RGD_ID:7241084 9012315 Tlr4 toll like receptor 4 gene DOID:3021 acute kidney failure ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Sepsis PMID:22655058|REF_RGD_ID:7207898 9012315 Tlr4 toll like receptor 4 gene DOID:3021 acute kidney failure treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22266601|REF_RGD_ID:6892690 9012315 Tlr4 toll like receptor 4 gene DOID:3042 allergic contact dermatitis ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:20711192|REF_RGD_ID:7777133 9012315 Tlr4 toll like receptor 4 gene DOID:3042 allergic contact dermatitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:18725520|REF_RGD_ID:7794737 9012315 Tlr4 toll like receptor 4 gene DOID:305 carcinoma ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 9012315 Tlr4 toll like receptor 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737013 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset PMID:10835634|PMID:12124407|PMID:15547160|PMID:15829498|PMID:16879199|PMID:17704786|PMID:26079505|PMID:26174031 9012315 Tlr4 toll like receptor 4 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:blood cells PMID:20169003|REF_RGD_ID:4144119 9012315 Tlr4 toll like receptor 4 gene DOID:3310 atopic dermatitis ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :896G>A(human) PMID:23821954|REF_RGD_ID:7794689 9012315 Tlr4 toll like receptor 4 gene DOID:3310 atopic dermatitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:blood cell: PMID:19764566|REF_RGD_ID:7794745 9012315 Tlr4 toll like receptor 4 gene DOID:3393 coronary artery disease ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20524934 9012315 Tlr4 toll like receptor 4 gene DOID:3393 coronary artery disease ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:15632890|REF_RGD_ID:1580736 9012315 Tlr4 toll like receptor 4 gene DOID:3407 carotid artery disease ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:15258789|REF_RGD_ID:1580737 9012315 Tlr4 toll like receptor 4 gene DOID:3770 pulmonary fibrosis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20610040|REF_RGD_ID:4144177 9012315 Tlr4 toll like receptor 4 gene DOID:3770 pulmonary fibrosis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with acute lung injury PMID:20017955|REF_RGD_ID:4144120 9012315 Tlr4 toll like receptor 4 gene DOID:3910 lung adenocarcinoma ISO RGD:737013 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 9012315 Tlr4 toll like receptor 4 gene DOID:399 tuberculosis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:12218133|REF_RGD_ID:4144821 9012315 Tlr4 toll like receptor 4 gene DOID:4448 macular degeneration ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829498 9012315 Tlr4 toll like receptor 4 gene DOID:4448 macular degeneration no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:: rs4986790(human) PMID:19628747|REF_RGD_ID:7794842 9012315 Tlr4 toll like receptor 4 gene DOID:4448 macular degeneration no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs: :p.D299G,T399I(human) PMID:18172114|REF_RGD_ID:7794843 9012315 Tlr4 toll like receptor 4 gene DOID:4448 macular degeneration susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D299G(human) PMID:15829498|REF_RGD_ID:7794837 9012315 Tlr4 toll like receptor 4 gene DOID:4481 allergic rhinitis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:decreased expression:nasal mucosa: PMID:22577387|REF_RGD_ID:7800740 9012315 Tlr4 toll like receptor 4 gene DOID:4481 allergic rhinitis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:nasal lavage,leukocyte, bone marrow: PMID:22555057|REF_RGD_ID:8552993 9012315 Tlr4 toll like receptor 4 gene DOID:4481 allergic rhinitis no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism: :4216G>C(human) PMID:19763595|REF_RGD_ID:4145354 9012315 Tlr4 toll like receptor 4 gene DOID:4481 allergic rhinitis severity ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.D299G(human) PMID:22402138|REF_RGD_ID:7800732 9012315 Tlr4 toll like receptor 4 gene DOID:4481 allergic rhinitis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :rs1927911(human) PMID:23639307|REF_RGD_ID:7800736 9012315 Tlr4 toll like receptor 4 gene DOID:4481 allergic rhinitis treatment ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:17069098|REF_RGD_ID:7800738 9012315 Tlr4 toll like receptor 4 gene DOID:4677 keratitis ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea: PMID:18398706|REF_RGD_ID:8552914 9012315 Tlr4 toll like receptor 4 gene DOID:4677 keratitis ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Eye Infections,Fungal;DNA:SNP::rs10983755(human) PMID:24074256|REF_RGD_ID:7794785 9012315 Tlr4 toll like receptor 4 gene DOID:4677 keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Eye Infections, Fungal; mRNA,protein:increased expression:macrophage: PMID:19074808|REF_RGD_ID:7794779 9012315 Tlr4 toll like receptor 4 gene DOID:4677 keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Eye Infections,Fungal; PMID:19875664|REF_RGD_ID:7794845 9012315 Tlr4 toll like receptor 4 gene DOID:4914 esophagus adenocarcinoma ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077 9012315 Tlr4 toll like receptor 4 gene DOID:4989 pancreatitis ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:19260515|REF_RGD_ID:2312507 9012315 Tlr4 toll like receptor 4 gene DOID:4989 pancreatitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19201771|REF_RGD_ID:4144143 9012315 Tlr4 toll like receptor 4 gene DOID:5082 liver cirrhosis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:intestine: PMID:27061671|REF_RGD_ID:14697732 9012315 Tlr4 toll like receptor 4 gene DOID:5082 liver cirrhosis treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:26809353|REF_RGD_ID:14700654 9012315 Tlr4 toll like receptor 4 gene DOID:5082 liver cirrhosis treatment ISO RGD:3870 D RGD:9068941 20240125 RGD associated with chronic intermittent hypoxia PMID:32626927|REF_RGD_ID:401959337 9012315 Tlr4 toll like receptor 4 gene DOID:5082 liver cirrhosis treatment ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:20006396|REF_RGD_ID:18182934 9012315 Tlr4 toll like receptor 4 gene DOID:552 pneumonia ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 9012315 Tlr4 toll like receptor 4 gene DOID:552 pneumonia ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20357263|REF_RGD_ID:4142858 9012315 Tlr4 toll like receptor 4 gene DOID:5614 eye disease ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16146574|REF_RGD_ID:8552913 9012315 Tlr4 toll like receptor 4 gene DOID:5844 myocardial infarction ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:15864121|REF_RGD_ID:1580734 9012315 Tlr4 toll like receptor 4 gene DOID:5844 myocardial infarction ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs1927911, minor allele associated with decreased risk PMID:18549840|REF_RGD_ID:5562819 9012315 Tlr4 toll like receptor 4 gene DOID:630 genetic disease ISO RGD:737013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012315 Tlr4 toll like receptor 4 gene DOID:6432 pulmonary hypertension ISO RGD:737014 D RGD:9068941 20200609 RGD associated with anoxia PMID:20205596|REF_RGD_ID:4144108 9012315 Tlr4 toll like receptor 4 gene DOID:6543 acne no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:exons:p.D299G,T399I(human) PMID:17033191|REF_RGD_ID:7794754 9012315 Tlr4 toll like receptor 4 gene DOID:684 hepatocellular carcinoma ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27022031 9012315 Tlr4 toll like receptor 4 gene DOID:684 hepatocellular carcinoma ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:28578348|REF_RGD_ID:14700552 9012315 Tlr4 toll like receptor 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :rs1057317(human) PMID:25179842|REF_RGD_ID:14700557 9012315 Tlr4 toll like receptor 4 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :multiples PMID:21559380|REF_RGD_ID:14700558 9012315 Tlr4 toll like receptor 4 gene DOID:7147 ankylosing spondylitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:blood cell: PMID:20952467|REF_RGD_ID:7794744 9012315 Tlr4 toll like receptor 4 gene DOID:783 end stage renal disease ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:20729266|REF_RGD_ID:7240546 9012315 Tlr4 toll like receptor 4 gene DOID:824 periodontitis ISO RGD:737013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pericementitis PMID:10835634|PMID:12124407|PMID:15547160|PMID:15829498|PMID:16879199|PMID:17704786|PMID:26079505|PMID:26174031 9012315 Tlr4 toll like receptor 4 gene DOID:848 arthritis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:haplotype: : PMID:19395541|REF_RGD_ID:7777177 9012315 Tlr4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:3870 D RGD:9068941 20200609 RGD Acute Lung Injury; mRNA, protein:increased expression:lung PMID:19930876|REF_RGD_ID:4144082 9012315 Tlr4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:3870 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing PMID:16286274|REF_RGD_ID:2312725 9012315 Tlr4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:9068941 20200609 RGD acute lung injury PMID:15731076|REF_RGD_ID:4144789 9012315 Tlr4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:9068941 20200609 RGD acute lung injury associated with Hemorrhagic shock; mRNA:increased expression:lung PMID:18827744|REF_RGD_ID:4144149 9012315 Tlr4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:9068941 20200609 RGD lung injury associated with pancreatitis; PMID:19201771|REF_RGD_ID:4144143 9012315 Tlr4 toll like receptor 4 gene DOID:850 lung disease ISO RGD:737014 D RGD:9068941 20200609 RGD ventilator-induced lung injury PMID:20683250|REF_RGD_ID:4143249 9012315 Tlr4 toll like receptor 4 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 9012315 Tlr4 toll like receptor 4 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:21240009|REF_RGD_ID:5490305 9012315 Tlr4 toll like receptor 4 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23650378 9012315 Tlr4 toll like receptor 4 gene DOID:869 cholesteatoma ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:mucosa: PMID:22883581|REF_RGD_ID:7800662 9012315 Tlr4 toll like receptor 4 gene DOID:874 bacterial pneumonia ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16210672|PMID:20650991|REF_RGD_ID:4144172|REF_RGD_ID:4144197 9012315 Tlr4 toll like receptor 4 gene DOID:8778 Crohn's disease ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17914947 9012315 Tlr4 toll like receptor 4 gene DOID:8893 psoriasis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell: PMID:23457721|REF_RGD_ID:7777173 9012315 Tlr4 toll like receptor 4 gene DOID:8927 learning disability ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29107071 9012315 Tlr4 toll like receptor 4 gene DOID:8947 diabetic retinopathy onset ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.N299G (human) PMID:19135114|REF_RGD_ID:2312487 9012315 Tlr4 toll like receptor 4 gene DOID:9000039 Spinal Cord Injuries severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:25990044|REF_RGD_ID:14700556 9012315 Tlr4 toll like receptor 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Carcinoma, Ductal, Breast; PMID:23338716|REF_RGD_ID:7794684 9012315 Tlr4 toll like receptor 4 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 9012315 Tlr4 toll like receptor 4 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Plaque,Atherosclerotic;mRNA:increased expression:mononuclear cell: PMID:23457721|REF_RGD_ID:7777173 9012315 Tlr4 toll like receptor 4 gene DOID:9000238 Acute-On-Chronic Liver Failure treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:23591781|REF_RGD_ID:10402084 9012315 Tlr4 toll like receptor 4 gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:3870 D RGD:9068941 20240125 RGD PMID:32626927|REF_RGD_ID:401959337 9012315 Tlr4 toll like receptor 4 gene DOID:9000310 Lung Injury ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22300504 9012315 Tlr4 toll like receptor 4 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:19719951|REF_RGD_ID:4144093 9012315 Tlr4 toll like receptor 4 gene DOID:9000641 Pain ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:18662331|REF_RGD_ID:2312574 9012315 Tlr4 toll like receptor 4 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20007931|REF_RGD_ID:4144229 9012315 Tlr4 toll like receptor 4 gene DOID:9000784 Fibrosis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585667 9012315 Tlr4 toll like receptor 4 gene DOID:9000843 Acne Conglobata susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:exons:p.D299G,T399I(human) PMID:22085193|REF_RGD_ID:7777157 9012315 Tlr4 toll like receptor 4 gene DOID:9000889 Escherichia Coli Meningitis ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:12781911|REF_RGD_ID:7794740 9012315 Tlr4 toll like receptor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22180778 9012315 Tlr4 toll like receptor 4 gene DOID:9000998 Brain Injuries ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18316784|REF_RGD_ID:2312713 9012315 Tlr4 toll like receptor 4 gene DOID:9000998 Brain Injuries ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 9012315 Tlr4 toll like receptor 4 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:gingiva: PMID:21848608|REF_RGD_ID:7794852 9012315 Tlr4 toll like receptor 4 gene DOID:9001371 Eosinophilia ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26882889 9012315 Tlr4 toll like receptor 4 gene DOID:9001472 Nasal Polyps ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;mRNA,protein:increased expression: PMID:23157229|REF_RGD_ID:7800741 9012315 Tlr4 toll like receptor 4 gene DOID:9001552 Acanthamoeba Keratitis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea PMID:21155840|REF_RGD_ID:7777095 9012315 Tlr4 toll like receptor 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9012315 Tlr4 toll like receptor 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22683883|REF_RGD_ID:7241092 9012315 Tlr4 toll like receptor 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:27601294|REF_RGD_ID:18182936 9012315 Tlr4 toll like receptor 4 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 9012315 Tlr4 toll like receptor 4 gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:25049041|REF_RGD_ID:14697700 9012315 Tlr4 toll like receptor 4 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21031135|REF_RGD_ID:7794771 9012315 Tlr4 toll like receptor 4 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27442881 9012315 Tlr4 toll like receptor 4 gene DOID:9001949 Fungal Eye Infections ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:19474209|REF_RGD_ID:2312502 9012315 Tlr4 toll like receptor 4 gene DOID:9001981 Weight Loss ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31442584 9012315 Tlr4 toll like receptor 4 gene DOID:9002138 Spinal Cord Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:27760212|REF_RGD_ID:12910551 9012315 Tlr4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21431875|REF_RGD_ID:10402078 9012315 Tlr4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:membrane raft: PMID:23395256|REF_RGD_ID:14697699 9012315 Tlr4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:22797797|REF_RGD_ID:14697702 9012315 Tlr4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:27064547|REF_RGD_ID:14697698 9012315 Tlr4 toll like receptor 4 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21693218|REF_RGD_ID:5685379 9012315 Tlr4 toll like receptor 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22021706|REF_RGD_ID:7207902 9012315 Tlr4 toll like receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:20714435|REF_RGD_ID:4144070 9012315 Tlr4 toll like receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 9012315 Tlr4 toll like receptor 4 gene DOID:9002211 Hyperalgesia ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:15809417|REF_RGD_ID:7815040 9012315 Tlr4 toll like receptor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17301271 9012315 Tlr4 toll like receptor 4 gene DOID:9002498 Wallerian Degeneration ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:18003835|REF_RGD_ID:2312723 9012315 Tlr4 toll like receptor 4 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21616060 9012315 Tlr4 toll like receptor 4 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:18644848|REF_RGD_ID:2312575 9012315 Tlr4 toll like receptor 4 gene DOID:9003036 Oral Lichen Planus ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:oral epithelium: PMID:22672741|REF_RGD_ID:7777153 9012315 Tlr4 toll like receptor 4 gene DOID:9003157 Respiratory Sounds susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs::rs11536891,rs11536896,rs11536898(human) PMID:20085599|REF_RGD_ID:5130731 9012315 Tlr4 toll like receptor 4 gene DOID:9003321 Bacterial Keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections; PMID:23841825|REF_RGD_ID:8552886 9012315 Tlr4 toll like receptor 4 gene DOID:9003321 Bacterial Keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Serratia Infections; PMID:23033384|REF_RGD_ID:8662876 9012315 Tlr4 toll like receptor 4 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:20806060|REF_RGD_ID:5130178 9012315 Tlr4 toll like receptor 4 gene DOID:9004009 Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:19473433|REF_RGD_ID:2312503 9012315 Tlr4 toll like receptor 4 gene DOID:9004009 Reperfusion Injury ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25780291|PMID:27064547 9012315 Tlr4 toll like receptor 4 gene DOID:9004009 Reperfusion Injury ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17126102|REF_RGD_ID:4144169 9012315 Tlr4 toll like receptor 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:26095186|REF_RGD_ID:14700655 9012315 Tlr4 toll like receptor 4 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNP: :rs2148356(human) PMID:26095186|REF_RGD_ID:14700655 9012315 Tlr4 toll like receptor 4 gene DOID:9004055 Fungal Keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Aspergillosis PMID:20617171|REF_RGD_ID:7794847 9012315 Tlr4 toll like receptor 4 gene DOID:9004283 Transplant Rejection ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20038715|REF_RGD_ID:7240555 9012315 Tlr4 toll like receptor 4 gene DOID:9004283 Transplant Rejection ISO RGD:737014 D RGD:9068941 20200609 RGD pancreatic islet PMID:20642685|REF_RGD_ID:7240548 9012315 Tlr4 toll like receptor 4 gene DOID:9004484 Sepsis ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:14604479|REF_RGD_ID:2312732 9012315 Tlr4 toll like receptor 4 gene DOID:9004484 Sepsis ISO RGD:3870 D RGD:9068941 20200609 RGD associated with Liver Diseases;mRNA:increased expression:liver PMID:19489280|REF_RGD_ID:2312497 9012315 Tlr4 toll like receptor 4 gene DOID:9004484 Sepsis ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20624996 9012315 Tlr4 toll like receptor 4 gene DOID:9004538 Hearing Loss ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21148032 9012315 Tlr4 toll like receptor 4 gene DOID:9004538 Hearing Loss susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Meningitis,Bacterial; DNA:SNP,haplotype: :896A>G(rs4986790)(human) PMID:22662111|REF_RGD_ID:7800663 9012315 Tlr4 toll like receptor 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21473897 9012315 Tlr4 toll like receptor 4 gene DOID:9004590 Acute Liver Failure ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18070011|REF_RGD_ID:4144156 9012315 Tlr4 toll like receptor 4 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:20546456|REF_RGD_ID:14700555 9012315 Tlr4 toll like receptor 4 gene DOID:9004610 Acute Lung Injury ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:19567182|REF_RGD_ID:5135496 9012315 Tlr4 toll like receptor 4 gene DOID:9004974 Painful Neuropathy treatment ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:18615568|REF_RGD_ID:7815041 9012315 Tlr4 toll like receptor 4 gene DOID:9005036 Bacteremia susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D299G, T399I (human) PMID:18180796|REF_RGD_ID:4144194 9012315 Tlr4 toll like receptor 4 gene DOID:9005172 Lung Neoplasms ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19925653 9012315 Tlr4 toll like receptor 4 gene DOID:9005269 Stable Angina ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20981132 9012315 Tlr4 toll like receptor 4 gene DOID:9005372 Inflammation ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16651628|PMID:22053092|PMID:22178603|PMID:22300504 9012315 Tlr4 toll like receptor 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:16740310|REF_RGD_ID:2312491 9012315 Tlr4 toll like receptor 4 gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:20207969|REF_RGD_ID:7794846 9012315 Tlr4 toll like receptor 4 gene DOID:9005930 Endotoxemia ISO RGD:737014 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:23977376|REF_RGD_ID:14697731 9012315 Tlr4 toll like receptor 4 gene DOID:9005930 Endotoxemia disease_progression ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:23977376|REF_RGD_ID:14697731 9012315 Tlr4 toll like receptor 4 gene DOID:9005930 Endotoxemia treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22172266|REF_RGD_ID:7241094 9012315 Tlr4 toll like receptor 4 gene DOID:9005941 Rhinosinusitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:paranasal sinus PMID:22182736|REF_RGD_ID:7800733 9012315 Tlr4 toll like receptor 4 gene DOID:9005968 Neuralgia ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar vertebra PMID:15145554|REF_RGD_ID:1342461 9012315 Tlr4 toll like receptor 4 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:11801667|PMID:20130923|REF_RGD_ID:7240552|REF_RGD_ID:7241087 9012315 Tlr4 toll like receptor 4 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:23239000|REF_RGD_ID:7207892 9012315 Tlr4 toll like receptor 4 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:3870 D RGD:9068941 20200609 RGD mRNA:increased expression:multiple tissues PMID:18434754|REF_RGD_ID:2312677 9012315 Tlr4 toll like receptor 4 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22115333|REF_RGD_ID:10402095 9012315 Tlr4 toll like receptor 4 gene DOID:9006928 Viral Bronchiolitis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:decreased expression:neutrophil PMID:19497921|REF_RGD_ID:4144183 9012315 Tlr4 toll like receptor 4 gene DOID:9006928 Viral Bronchiolitis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:14738455|REF_RGD_ID:4144819 9012315 Tlr4 toll like receptor 4 gene DOID:9006944 Alcoholic Fatty Liver severity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:21463341|PMID:29884546|REF_RGD_ID:14697697|REF_RGD_ID:14700554 9012315 Tlr4 toll like receptor 4 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:737013 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea: PMID:20012880|REF_RGD_ID:8552969 9012315 Tlr4 toll like receptor 4 gene DOID:9006966 Pseudomonas Aeruginosa Keratitis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17065506|REF_RGD_ID:7794775 9012315 Tlr4 toll like receptor 4 gene DOID:9007096 Stroke ISO RGD:737013 D RGD:9068941 20200609 RGD associated with atherosclerosis;protein:increased expression:endothelial cell: PMID:20001205|REF_RGD_ID:7794781 9012315 Tlr4 toll like receptor 4 gene DOID:9007204 Dysbiosis ISO RGD:737013 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:35390362 9012315 Tlr4 toll like receptor 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury disease_progression ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:17504260|REF_RGD_ID:14697733 9012315 Tlr4 toll like receptor 4 gene DOID:9007389 Acute Tubulointerstitial Nephritis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:22194975|REF_RGD_ID:7207900 9012315 Tlr4 toll like receptor 4 gene DOID:9007599 Ocular Onchocerciasis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:11884755|REF_RGD_ID:7794682 9012315 Tlr4 toll like receptor 4 gene DOID:9007692 Insulin Resistance ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17426960|REF_RGD_ID:1620681 9012315 Tlr4 toll like receptor 4 gene DOID:9007692 Insulin Resistance ISO RGD:737014 D RGD:9068941 20200609 RGD associated with Obesity PMID:19675137|REF_RGD_ID:2312483 9012315 Tlr4 toll like receptor 4 gene DOID:9007692 Insulin Resistance severity ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle PMID:18633101|REF_RGD_ID:2312489 9012315 Tlr4 toll like receptor 4 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:14962484|REF_RGD_ID:1302746 9012315 Tlr4 toll like receptor 4 gene DOID:9008091 Optic Nerve Injuries ISO RGD:737014 D RGD:9068941 20200609 RGD protein:increased expression:optic nerve PMID:23103505|REF_RGD_ID:7794777 9012315 Tlr4 toll like receptor 4 gene DOID:9008103 Seasonal Allergic Rhinitis susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms:cds:p.D299G, T399I (human) PMID:18517079|REF_RGD_ID:4144192 9012315 Tlr4 toll like receptor 4 gene DOID:9008163 Chronic Hepatitis B ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:28414577|REF_RGD_ID:15090812 9012315 Tlr4 toll like receptor 4 gene DOID:9008212 Diabetic Foot susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human); PMID:23936790|REF_RGD_ID:7777174 9012315 Tlr4 toll like receptor 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16879199|PMID:22180778 9012315 Tlr4 toll like receptor 4 gene DOID:9008520 Chronic Pain ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:24204973|REF_RGD_ID:8553185 9012315 Tlr4 toll like receptor 4 gene DOID:9008691 Liver Injury severity ISO RGD:737014 D RGD:9068941 20200609 RGD associated with acute pancreatitis; PMID:18436016|REF_RGD_ID:14697701 9012315 Tlr4 toll like receptor 4 gene DOID:9008821 Otitis Media with Effusion ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:22336013|REF_RGD_ID:7364764 9012315 Tlr4 toll like receptor 4 gene DOID:9008865 Entamoebiasis ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:15910421|REF_RGD_ID:7241086 9012315 Tlr4 toll like receptor 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19841185|REF_RGD_ID:7241088 9012315 Tlr4 toll like receptor 4 gene DOID:9111 cutaneous leishmaniasis ISO RGD:737013 D RGD:9068941 20200609 RGD protein:decreased expression:skin: PMID:20493664|REF_RGD_ID:7794748 9012315 Tlr4 toll like receptor 4 gene DOID:9351 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD PMID:15632890|REF_RGD_ID:1580736 9012315 Tlr4 toll like receptor 4 gene DOID:9351 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:19210958|REF_RGD_ID:2312485 9012315 Tlr4 toll like receptor 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.N299G, p.T399I (human) PMID:19395279|REF_RGD_ID:2312484 9012315 Tlr4 toll like receptor 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:19010563|REF_RGD_ID:2312680 9012315 Tlr4 toll like receptor 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16728431|REF_RGD_ID:2312492 9012315 Tlr4 toll like receptor 4 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737013 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.N299G, p.T399I (human) PMID:14578307|REF_RGD_ID:2312494 9012315 Tlr4 toll like receptor 4 gene DOID:9452 steatotic liver disease ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18641190|PMID:27022031 9012315 Tlr4 toll like receptor 4 gene DOID:9675 pulmonary emphysema ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17053835|REF_RGD_ID:4144170 9012315 Tlr4 toll like receptor 4 gene DOID:9675 pulmonary emphysema ISO RGD:737014 D RGD:9068941 20220825 MouseDO OMIM:130700 9012315 Tlr4 toll like receptor 4 gene DOID:9743 diabetic neuropathy ISO RGD:3870 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:22910613|REF_RGD_ID:7777098 9012315 Tlr4 toll like receptor 4 gene DOID:9743 diabetic neuropathy ISO RGD:737013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14693986 9012315 Tlr4 toll like receptor 4 gene DOID:9743 diabetic neuropathy susceptibility ISO RGD:737013 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms: :p.N299G, p.T399I (human) PMID:14693986|REF_RGD_ID:2312493 9012315 Tlr4 toll like receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737013 D RGD:9068941 20200609 RGD protein:increased expression:monocyte PMID:18029454|REF_RGD_ID:2312683 9012315 Tlr4 toll like receptor 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:16728431|REF_RGD_ID:2312492 9012315 Tlr4 toll like receptor 4 gene DOID:9970 obesity ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:19144836|REF_RGD_ID:2312510 9012315 Tlr4 toll like receptor 4 gene DOID:9970 obesity ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:19144836|REF_RGD_ID:2312510 9012315 Tlr4 toll like receptor 4 gene DOID:9970 obesity susceptibility ISO RGD:737014 D RGD:9068941 20200609 RGD PMID:17053832|REF_RGD_ID:1620653 9012315 Tlr4 toll-like receptor 4 gene DOID:11446 sciatic neuropathy ISO RGD:3870 D RGD:9068941 20200609 RGD PMID:22173123|REF_RGD_ID:7364836 9012331 Slc46a2 solute carrier family 46 member 2 gene DOID:630 genetic disease ISO RGD:1321413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012339 Zfp91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:10534 stomach cancer ameliorates ISO RGD:1354161 D RGD:9068941 20220331 RGD PMID:31046116|REF_RGD_ID:151665744 9012339 Zfp91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:1059 intellectual disability ISO RGD:1354161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9012339 Zfp91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:630 genetic disease ISO RGD:1354161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012339 Zfp91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:9002395 Hypothermia ISO RGD:1354161 D RGD:9068941 20220707 CTD CTD Direct Evidence: therapeutic PMID:34942311 9012339 Zfp91 ZFP91 zinc finger protein, atypical E3 ubiquitin ligase gene DOID:9119 acute myeloid leukemia ISO RGD:628736 D RGD:9068941 20200609 RGD PMID:12738986|REF_RGD_ID:727221 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0050144 Kartagener syndrome ISO RGD:1602406 D RGD:9068941 20221013 CTD CTD Direct Evidence: marker/mechanism PMID:22387996 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0050144 Kartagener syndrome ISO RGD:1619616 D RGD:9068941 20221013 MouseDO 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0050545 visceral heterotaxy ISO RGD:1619616 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0050700 cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1602406 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:1602406 D RGD:7240710 20180130 OMIM 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:1602406 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: DNAAF3-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 PMID:10745040|PMID:22387996|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:34401452 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0110626 primary ciliary dyskinesia 2 ISO RGD:1602406 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 2 | ClinVar Annotator: match by term: DNAAF3-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 PMID:10745040|PMID:16199547|PMID:22387996|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:34401452 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0110936 nemaline myopathy 5A ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type PMID:28492532 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:3191 nemaline myopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:24033266|PMID:25741868|PMID:28492532 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1602406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:630 genetic disease ISO RGD:1602406 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9012362 Dnaaf3 dynein axonemal assembly factor 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1602406 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10745040|PMID:16199547|PMID:17576681|PMID:22387996|PMID:22876777|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31772028|PMID:31879361|PMID:34401452|PMID:9536098 9012383 Hoxd13 homeobox D13 gene DOID:0050581 brachydactyly ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.S308C (923C>G), p.I314L (940A>C) (human) PMID:12649808|REF_RGD_ID:12743593 9012383 Hoxd13 homeobox D13 gene DOID:0050689 brachydactyly-syndactyly syndrome ISO RGD:1318172 D RGD:7240710 20180130 OMIM 9012383 Hoxd13 homeobox D13 gene DOID:0050689 brachydactyly-syndactyly syndrome ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome | ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome PMID:17236141|PMID:22233338|PMID:23995701|PMID:25741868 9012383 Hoxd13 homeobox D13 gene DOID:0060242 synpolydactyly ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Synpolydactyly PMID:22233338|PMID:25741868 9012383 Hoxd13 homeobox D13 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1318172 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 9012383 Hoxd13 homeobox D13 gene DOID:0110967 brachydactyly type A4 ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:deletion:exon:p.A53_A59del (c.157_177del) (human) PMID:17236141|REF_RGD_ID:12738470 9012383 Hoxd13 homeobox D13 gene DOID:0110971 brachydactyly type D ISO RGD:1318172 D RGD:7240710 20180130 OMIM 9012383 Hoxd13 homeobox D13 gene DOID:0110971 brachydactyly type D ISO RGD:1318172 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brachydactyly type D PMID:12620993|PMID:12649808|PMID:16314414|PMID:25741868|PMID:28492532 9012383 Hoxd13 homeobox D13 gene DOID:0110972 brachydactyly type E1 ISO RGD:1318172 D RGD:7240710 20180130 OMIM 9012383 Hoxd13 homeobox D13 gene DOID:0110972 brachydactyly type E1 ISO RGD:1318172 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Brachydactyly type E1 PMID:12414828|PMID:12620993|PMID:12649808|PMID:16314414|PMID:22233338|PMID:25741868|PMID:28492532 9012383 Hoxd13 homeobox D13 gene DOID:0111819 syndactyly type 5 ISO RGD:1318172 D RGD:7240710 20180130 OMIM 9012383 Hoxd13 homeobox D13 gene DOID:0111819 syndactyly type 5 ISO RGD:1318172 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Syndactyly type 5 PMID:15333588|PMID:16222680|PMID:17236141|PMID:215242|PMID:25741868|PMID:28492532|PMID:9207113 9012383 Hoxd13 homeobox D13 gene DOID:10892 hypospadias ISO RGD:1308417 D RGD:9068941 20200609 RGD mRNA:decreased expression:male genital tubercle PMID:27079746|REF_RGD_ID:12743602 9012383 Hoxd13 homeobox D13 gene DOID:11193 syndactyly ISO RGD:1318172 D RGD:9068941 20220721 CTD CTD Direct Evidence: marker/mechanism 9012383 Hoxd13 homeobox D13 gene DOID:11383 cryptorchidism ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:splice-site mutation:exon:180A>G (human) PMID:17216618|REF_RGD_ID:12743597 9012383 Hoxd13 homeobox D13 gene DOID:1148 polydactyly ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:22233338|PMID:25741868 9012383 Hoxd13 homeobox D13 gene DOID:11836 clubfoot ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:SNP:exon:rs13392701 (human) PMID:16331564|REF_RGD_ID:12743594 9012383 Hoxd13 homeobox D13 gene DOID:1227 neutropenia ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 9012383 Hoxd13 homeobox D13 gene DOID:14679 VACTERL association ISO RGD:1318172 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VACTERL association PMID:19006232 9012383 Hoxd13 homeobox D13 gene DOID:2355 anemia ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 9012383 Hoxd13 homeobox D13 gene DOID:614 lymphopenia ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27725143 9012383 Hoxd13 homeobox D13 gene DOID:630 genetic disease ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22233338|PMID:25741868 9012383 Hoxd13 homeobox D13 gene DOID:7148 rheumatoid arthritis ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 9012383 Hoxd13 homeobox D13 gene DOID:9001471 Anorectal Malformations ISO RGD:1308417 D RGD:9068941 20200609 RGD mRNA:decreased expression:hindgut PMID:17161201|REF_RGD_ID:1599527 9012383 Hoxd13 homeobox D13 gene DOID:9001471 Anorectal Malformations ISO RGD:1308417 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum PMID:27079746|REF_RGD_ID:12743602 9012383 Hoxd13 homeobox D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:7240710 20180822 OMIM 9012383 Hoxd13 homeobox D13 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Synpolydactyly type 1 PMID:12414828|PMID:12900906|PMID:14698619|PMID:15333588|PMID:15917204|PMID:16222680|PMID:18399101|PMID:19060004|PMID:215242|PMID:21814222|PMID:22233338|PMID:22373878|PMID:22374128|PMID:23948678|PMID:24055421|PMID:24789103|PMID:25741868|PMID:28492532|PMID:30408610|PMID:7666393|PMID:8620844|PMID:8817328|PMID:9207113|PMID:9758628 9012383 Hoxd13 homeobox D13 gene DOID:9005586 Synpolydactyly 1 severity ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:insertion:exon PMID:9207113|REF_RGD_ID:12743592 9012383 Hoxd13 homeobox D13 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1318172 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8620844 9012383 Hoxd13 homeobox D13 gene DOID:9006432 Brachydactyly, Type E ISO RGD:1318172 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.R274X (c.820C>T) (human) PMID:22233338|REF_RGD_ID:12743596 9012396 Aen apoptosis enhancing nuclease gene DOID:2717 Bloom syndrome ISO RGD:1601976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9012396 Aen apoptosis enhancing nuclease gene DOID:630 genetic disease ISO RGD:1601976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012396 Aen apoptosis enhancing nuclease gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1601976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9012396 Aen apoptosis enhancing nuclease gene DOID:9256 colorectal cancer ISO RGD:1601976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9012408 Tnfrsf25 TNF receptor superfamily member 25 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1312746 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9012408 Tnfrsf25 TNF receptor superfamily member 25 gene DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 ISO RGD:1312746 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 9012408 Tnfrsf25 TNF receptor superfamily member 25 gene DOID:12377 spinal muscular atrophy ISO RGD:1312746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 9012408 Tnfrsf25 TNF receptor superfamily member 25 gene DOID:630 genetic disease ISO RGD:1312746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012408 Tnfrsf25 TNF receptor superfamily member 25 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9012440 Fstl4 follistatin like 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1316293 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9012440 Fstl4 follistatin like 4 gene DOID:630 genetic disease ISO RGD:1316293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012440 Fstl4 follistatin like 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9012440 Fstl4 follistatin like 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1316293 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9012459 Bnip5 BCL2 interacting protein 5 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1605195 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9012459 Bnip5 BCL2 interacting protein 5 gene DOID:10283 prostate cancer ISO RGD:1605195 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9012484 Nkiras2 NFKB inhibitor interacting Ras like 2 gene DOID:0080600 COVID-19 ISO RGD:1316518 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9012484 Nkiras2 NFKB inhibitor interacting Ras like 2 gene DOID:630 genetic disease ISO RGD:1316518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:732624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732624 D RGD:9068941 20220715 RGD mRNA:increased expression:oral cavity (human) PMID:29286141|REF_RGD_ID:152999009 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732624 D RGD:9068941 20220721 RGD protein:increased expression:oral cavity (human) PMID:20967871|REF_RGD_ID:152999012 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:0050866 oral squamous cell carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220714 RGD protein:decreased expression:oral cavity (human) PMID:21952624|REF_RGD_ID:152998987 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220714 RGD protein:increased expression:oral cavity (human) PMID:23852810|REF_RGD_ID:152998980 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue treatment ISO RGD:732624 D RGD:9068941 20220811 RGD DNA:gene fusion: (human) PMID:21465313|REF_RGD_ID:153305955 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:0060108 brain glioma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:0080199 colorectal carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220715 RGD human cell line in a mouse model PMID:30630498|REF_RGD_ID:152999008 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:732624 D RGD:9068941 20220728 RGD protein:increased expression:liver (human) PMID:29307797|REF_RGD_ID:153297819 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:1059 intellectual disability ISO RGD:732624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:11054 urinary bladder cancer ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12926068 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:1240 leukemia ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970779 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:12704 ataxia telangiectasia ISO RGD:732624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:1996 rectum adenocarcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:rectum (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:219 colon cancer disease_progression ISO RGD:732624 D RGD:9068941 20220714 RGD protein:increased expression:colon (human) PMID:22751125|REF_RGD_ID:152998979 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:3068 glioblastoma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:brain (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:3459 breast carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:3908 lung non-small cell carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220728 RGD DNA:SNP:intron: (rs11225211) (human) PMID:32905523|REF_RGD_ID:153297804 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220715 RGD protein:increased expression:lung (human) PMID:20959404|PMID:27737687|REF_RGD_ID:152998985|REF_RGD_ID:152999005 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220811 RGD mRNA:increased expression:B cell (human) PMID:33098370|REF_RGD_ID:153323293 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:3948 adrenocortical carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:3963 thyroid gland carcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:thyroid gland (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:4074 pancreatic adenocarcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:pancreas (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:4450 renal cell carcinoma ISO RGD:732624 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney PMID:17154176|REF_RGD_ID:1643526 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:4465 papillary renal cell carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:4914 esophagus adenocarcinoma treatment ISO RGD:732624 D RGD:9068941 20220715 RGD PMID:26291056|REF_RGD_ID:152999007 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:4948 gallbladder carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220728 RGD mRNA:increased expression:gall bladder (human) PMID:28295868|REF_RGD_ID:153297817 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:5520 head and neck squamous cell carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:head or neck skin (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:5746 ovarian serous cystadenocarcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:ovary (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:630 genetic disease ISO RGD:732624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:732624 D RGD:9068941 20220714 RGD human cell line in a mouse model PMID:30368883|PMID:33310033|REF_RGD_ID:152998937|REF_RGD_ID:152998988 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220714 RGD associated with hepatitis B;mRNA, protein:increased expression:liver (human) PMID:22682366|REF_RGD_ID:152998984 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:732624 D RGD:9068941 20220714 RGD mRNA, protein:increased expression:liver (human) PMID:22820591|REF_RGD_ID:152998986 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:732624 D RGD:9068941 20220715 RGD human cell line in a mouse model PMID:30210622|REF_RGD_ID:152999010 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:769 neuroblastoma ISO RGD:732624 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9000099 Experimental Colitis exacerbates ISO RGD:733266 D RGD:9068941 20220728 RGD PMID:26037070|REF_RGD_ID:11537970 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9000918 Disease Progression ISO RGD:732624 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9002846 bowenoid papulosis ISO RGD:732624 D RGD:9068941 20220714 RGD mRNA:increased expression:perianal skin (human) PMID:20346172|REF_RGD_ID:152998971 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9003566 Mesothelioma ameliorates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:mesothelium (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9003654 Testicular Germ Cell Tumor exacerbates ISO RGD:732624 D RGD:9068941 20220818 RGD mRNA:increased expression:testis (human) PMID:31964418|REF_RGD_ID:153344516 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9004831 Colitis-Associated Neoplasms ameliorates ISO RGD:733266 D RGD:9068941 20220728 RGD PMID:26037070|REF_RGD_ID:11537970 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9004831 Colitis-Associated Neoplasms disease_progression ISO RGD:732624 D RGD:9068941 20220811 RGD mRNA:increased expression:colonic mucosa (human) PMID:23388545|REF_RGD_ID:153323294 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:732624 D RGD:9068941 20220728 RGD protein:increased expression:liver (human) PMID:29307797|REF_RGD_ID:153297819 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:732624 D RGD:9068941 20220728 RGD associated with stomach cancer PMID:27282269|REF_RGD_ID:153297818 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9008114 Helicobacter Infections treatment ISO RGD:732624 D RGD:9068941 20220811 RGD associated with MALT lymphoma;DNA:gene fusion: (human) PMID:11398794|REF_RGD_ID:153305954 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9008163 Chronic Hepatitis B ameliorates ISO RGD:733266 D RGD:9068941 20220707 RGD PMID:25902529|REF_RGD_ID:152998939 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9256 colorectal cancer ISO RGD:732624 D RGD:9068941 20220721 RGD protein:increased expression:colorectal mucosa, cytoplasm (human) PMID:30653121|REF_RGD_ID:152999015 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732624 D RGD:9068941 20220811 RGD mRNA:increased expression:colorectum (human) PMID:34389694|REF_RGD_ID:153305952 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9256 colorectal cancer exacerbates ISO RGD:732624 D RGD:9068941 20220825 RGD mRNA:decreased expression:colonic mucosa (human) PMID:27827395|REF_RGD_ID:153344527 9012523 Birc3 baculoviral IAP repeat containing 3 gene DOID:9452 steatotic liver disease ISO RGD:732624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21664615 9012536 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:732553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 9012536 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:1059 intellectual disability ISO RGD:732553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9012536 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:10652 Alzheimer's disease ISO RGD:732553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19734902|PMID:21460841 9012536 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:630 genetic disease ISO RGD:732553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012536 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:732553 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503753 9012536 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:732553 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9012536 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:9119 acute myeloid leukemia ISO RGD:732553 D RGD:7240710 20180130 OMIM 9012536 Picalm phosphatidylinositol binding clathrin assembly protein gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:732553 D RGD:9068941 20200609 RGD DNA:inversion: :inv(11)(q14q23) PMID:12461747|REF_RGD_ID:1600760 9012588 Meak7 MTOR associated protein, eak-7 homolog gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1605650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 9012588 Meak7 MTOR associated protein, eak-7 homolog gene DOID:630 genetic disease ISO RGD:1605650 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012606 Acp4 acid phosphatase 4 gene DOID:0080953 amelogenesis imperfecta type 1J ISO RGD:1317948 D RGD:7240710 20190315 OMIM 9012606 Acp4 acid phosphatase 4 gene DOID:0080953 amelogenesis imperfecta type 1J ISO RGD:1317948 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J PMID:25741868|PMID:27843125|PMID:28513613 9012606 Acp4 acid phosphatase 4 gene DOID:2187 amelogenesis imperfecta ISO RGD:1317948 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:27843125 9012606 Acp4 acid phosphatase 4 gene DOID:630 genetic disease ISO RGD:1317948 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012636 Serpinf2 serpin family F member 2 gene DOID:0060601 alpha-2-plasmin inhibitor deficiency ISO RGD:1315455 D RGD:7240710 20180130 OMIM 9012636 Serpinf2 serpin family F member 2 gene DOID:0060601 alpha-2-plasmin inhibitor deficiency ISO RGD:1315455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-2-plasmin inhibitor deficiency PMID:10583218|PMID:2496145|PMID:7095605 9012636 Serpinf2 serpin family F member 2 gene DOID:0080600 COVID-19 severity ISO RGD:1315455 D RGD:9068941 20200813 RGD DNA:SNP: : PMID:32747830|REF_RGD_ID:38500238 9012636 Serpinf2 serpin family F member 2 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:1306692 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10423332|REF_RGD_ID:1625538 9012636 Serpinf2 serpin family F member 2 gene DOID:10591 pre-eclampsia ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:1334334|REF_RGD_ID:1625535 9012636 Serpinf2 serpin family F member 2 gene DOID:10763 hypertension ISO RGD:1315455 D RGD:9068941 20200609 RGD PMID:9361364|REF_RGD_ID:1625531 9012636 Serpinf2 serpin family F member 2 gene DOID:1168 familial hyperlipidemia ISO RGD:1306692 D RGD:9068941 20200609 RGD PMID:2313941|REF_RGD_ID:1625536 9012636 Serpinf2 serpin family F member 2 gene DOID:2213 hemorrhagic disease ISO RGD:1315455 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 9012636 Serpinf2 serpin family F member 2 gene DOID:3393 coronary artery disease ISO RGD:1315455 D RGD:9068941 20200609 RGD PMID:9184412|REF_RGD_ID:1625532 9012636 Serpinf2 serpin family F member 2 gene DOID:418 systemic scleroderma ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12595617|REF_RGD_ID:1625530 9012636 Serpinf2 serpin family F member 2 gene DOID:630 genetic disease ISO RGD:1315455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9012636 Serpinf2 serpin family F member 2 gene DOID:9000528 Coronary Disease ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15771120|REF_RGD_ID:1625529 9012636 Serpinf2 serpin family F member 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:1384011|REF_RGD_ID:1625534 9012636 Serpinf2 serpin family F member 2 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1315455 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9207984|REF_RGD_ID:1625533 9012636 Serpinf2 serpin family F member 2 gene DOID:9007571 Hyperlipoproteinemias ISO RGD:1315455 D RGD:9068941 20200609 RGD PMID:6121140|REF_RGD_ID:1625537 9012636 Serpinf2 serpin family F member 2 gene DOID:9008217 Hemorrhage ISO RGD:1315455 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.V384M (human) PMID:10583218|REF_RGD_ID:1580303 9012636 Serpinf2 serpin family F member 2 gene DOID:9477 pulmonary embolism severity ISO RGD:1315456 D RGD:9068941 20200609 RGD PMID:12911586|REF_RGD_ID:1580302 9012651 Klhl15 kelch like family member 15 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9012651 Klhl15 kelch like family member 15 gene DOID:0112020 non-syndromic X-linked intellectual disability 103 ISO RGD:1351915 D RGD:7240710 20190315 OMIM 9012651 Klhl15 kelch like family member 15 gene DOID:0112020 non-syndromic X-linked intellectual disability 103 ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 PMID:24817631|PMID:25644381|PMID:25741868 9012651 Klhl15 kelch like family member 15 gene DOID:12849 autistic disorder ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9012651 Klhl15 kelch like family member 15 gene DOID:630 genetic disease ISO RGD:1351915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012651 Klhl15 kelch like family member 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9012658 Ccdc124 coiled-coil domain containing 124 gene DOID:630 genetic disease ISO RGD:1605304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012658 Ccdc124 coiled-coil domain containing 124 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1605304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 9012668 Ttc9 tetratricopeptide repeat domain 9 gene DOID:2559 opiate dependence ISO RGD:1318967 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 9012668 Ttc9 tetratricopeptide repeat domain 9 gene DOID:2559 opiate dependence susceptibility ISO RGD:1318967 D RGD:9068941 20231102 RGD DNA:SNP:: (rs8688) (human) PMID:18438686|REF_RGD_ID:401851917 9012668 Ttc9 tetratricopeptide repeat domain 9 gene DOID:630 genetic disease ISO RGD:1318967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012684 Thoc2 THO complex 2 gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1353819 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 9012684 Thoc2 THO complex 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9012684 Thoc2 THO complex 2 gene DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ISO RGD:1353819 D RGD:7240710 20180130 OMIM 9012684 Thoc2 THO complex 2 gene DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome ISO RGD:1353819 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome PMID:1605217|PMID:25741868|PMID:26166480|PMID:28492532|PMID:8825049 9012684 Thoc2 THO complex 2 gene DOID:1059 intellectual disability ISO RGD:1353819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9012684 Thoc2 THO complex 2 gene DOID:12849 autistic disorder ISO RGD:1353819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9012684 Thoc2 THO complex 2 gene DOID:630 genetic disease ISO RGD:1353819 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9012684 Thoc2 THO complex 2 gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1353819 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 9012684 Thoc2 THO complex 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353819 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9012750 Serpina5 serpin family A member 5 gene DOID:0081063 DICER1 syndrome ISO RGD:1346137 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 9012750 Serpina5 serpin family A member 5 gene DOID:13580 cholestasis ISO RGD:1346137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 9012750 Serpina5 serpin family A member 5 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1346137 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 9012750 Serpina5 serpin family A member 5 gene DOID:630 genetic disease ISO RGD:1346137 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012750 Serpina5 serpin family A member 5 gene DOID:670 amphetamine abuse ISO RGD:1346137 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 9012750 Serpina5 serpin family A member 5 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:1346137 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:12139754|REF_RGD_ID:1580299 9012750 Serpina5 serpin family A member 5 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1346137 D RGD:9068941 20230831 RGD mRNA:decreased expression:leg blood vessel (human) PMID:22721676|REF_RGD_ID:401793723 9012764 Psmc3ip PSMC3 interacting protein gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:730859 D RGD:7240710 20180130 OMIM 9012764 Psmc3ip PSMC3 interacting protein gene DOID:0080495 ovarian dysgenesis 3 ISO RGD:730859 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 3 PMID:25741868|PMID:28492532|PMID:31042289 9012764 Psmc3ip PSMC3 interacting protein gene DOID:0111394 mucopolysaccharidosis type IIIB ISO RGD:730859 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:28492532 9012764 Psmc3ip PSMC3 interacting protein gene DOID:630 genetic disease ISO RGD:730859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9012764 Psmc3ip PSMC3 interacting protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:730859 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9012778 Synrg synergin gamma gene DOID:0060041 autism spectrum disorder ISO RGD:1348030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 9012778 Synrg synergin gamma gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1348030 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 9012778 Synrg synergin gamma gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:1348030 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 9012778 Synrg synergin gamma gene DOID:12849 autistic disorder ISO RGD:1348030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9012778 Synrg synergin gamma gene DOID:5419 schizophrenia ISO RGD:1348030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9012778 Synrg synergin gamma gene DOID:630 genetic disease ISO RGD:1348030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012778 Synrg synergin gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9012778 Synrg synergin gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1349345 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:1349345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive PMID:25741868|PMID:28492532 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:10907 microcephaly ISO RGD:1349345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:11193 syndactyly ISO RGD:1349345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:25741868|PMID:28492532 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:2340 craniosynostosis ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:630 genetic disease ISO RGD:1349345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9009169 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA ISO RGD:1349345 D RGD:7240710 20190315 OMIM 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9009169 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA ISO RGD:1349345 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia PMID:25741868|PMID:26573021|PMID:28492532|PMID:34326120 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9269 maple syrup urine disease ISO RGD:1349345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9012823 Plekhg2 pleckstrin homology and RhoGEF domain containing G2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349345 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 9012848 Golga2 golgin A2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9012848 Golga2 golgin A2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9012848 Golga2 golgin A2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9012848 Golga2 golgin A2 gene DOID:440 neuromuscular disease ISO RGD:1347402 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:25741868|PMID:34424553 9012848 Golga2 golgin A2 gene DOID:630 genetic disease ISO RGD:1347402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012848 Golga2 golgin A2 gene DOID:9002066 Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities ISO RGD:1347402 D RGD:7240710 20230215 OMIM 9012848 Golga2 golgin A2 gene DOID:9002066 Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities ISO RGD:1347402 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities PMID:25741868|PMID:30237576|PMID:34424553 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1342584 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:10944442|PMID:15269216|PMID:16213125|PMID:19364667|PMID:22033105|PMID:22200994|PMID:25741868|PMID:28492532|PMID:31292494|PMID:31386302|PMID:32860008 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0080600 COVID-19 ISO RGD:1342584 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1342584 D RGD:7240710 20190213 OMIM 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1342584 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:10944442|PMID:11112787|PMID:11181577|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:16199547|PMID:16213125|PMID:17383918|PMID:18804471|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:27079373|PMID:27671926|PMID:28492532|PMID:30634555|PMID:31292494|PMID:31386302|PMID:32860008|PMID:33093004|PMID:34849584|PMID:9463323 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:14330 Parkinson's disease ISO RGD:1556886 D RGD:9068941 20200609 RGD PMID:21383081|REF_RGD_ID:6484691 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3650 lactic acidosis ISO RGD:1342584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:25741868|PMID:33093004 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10944442|PMID:11112787|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:16213125|PMID:17383918|PMID:18804471|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:27079373|PMID:28492532|PMID:30634555|PMID:32860008|PMID:34849584|PMID:9463323 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:10944442|PMID:11112787|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:16213125|PMID:17383918|PMID:18804471|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:27079373|PMID:28492532|PMID:30634555|PMID:31292494|PMID:31386302|PMID:32860008|PMID:34849584|PMID:9463323 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:3652 Leigh disease ISO RGD:1342584 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:10944442|PMID:11112787|PMID:12616398|PMID:12944388|PMID:14765537|PMID:15269216|PMID:16199547|PMID:16213125|PMID:17383918|PMID:18804471|PMID:19107570|PMID:19364667|PMID:20818383|PMID:22033105|PMID:22200994|PMID:22326555|PMID:24020637|PMID:25741868|PMID:27079373|PMID:28492532|PMID:30634555|PMID:31292494|PMID:31386302|PMID:32860008|PMID:34849584|PMID:9463323 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:630 genetic disease ISO RGD:1342584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11165261|PMID:19107570|PMID:19364667|PMID:20433953|PMID:20818383|PMID:24020637|PMID:25741868|PMID:28492532|PMID:28844695 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:1556886 D RGD:9068941 20200609 RGD PMID:18396137|REF_RGD_ID:6484689 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:936 brain disease ISO RGD:1342584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24935635 9012894 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 gene DOID:9923 developmental coordination disorder ISO RGD:1342584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24935635 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1318357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1318357 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:10286 prostate carcinoma ISO RGD:1318357 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:prostate gland PMID:16391854|REF_RGD_ID:7488899 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:1059 intellectual disability ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:11198 DiGeorge syndrome ISO RGD:1318357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:11372 megacolon ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:12583 velocardiofacial syndrome ISO RGD:1318357 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:12849 autistic disorder ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:1520 colon carcinoma ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:1826 epilepsy ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:2394 ovarian cancer ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1318357 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:23686806|REF_RGD_ID:7488897 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:3905 lung carcinoma ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:4159 skin cancer ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:5419 schizophrenia ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:612 primary immunodeficiency disease ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:630 genetic disease ISO RGD:1318357 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:8552 chronic myeloid leukemia ISO RGD:1318357 D RGD:9068941 20200609 RGD protein:increased phosphorylation:blood PMID:17900686|REF_RGD_ID:13674160 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9012903 Crkl CRK like proto-oncogene, adaptor protein gene DOID:9008939 Breast Neoplasms ISO RGD:1318357 D RGD:9068941 20200609 RGD PMID:16391854|REF_RGD_ID:7488899 9012915 Lrp8 LDL receptor related protein 8 gene DOID:0060903 thrombosis ISO RGD:1313933 D RGD:9068941 20200609 RGD associated with Antiphospholipid Syndrome PMID:21119114|REF_RGD_ID:6483062 9012915 Lrp8 LDL receptor related protein 8 gene DOID:10652 Alzheimer's disease ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:2622T>C (human) PMID:12399018|REF_RGD_ID:6483064 9012915 Lrp8 LDL receptor related protein 8 gene DOID:10652 Alzheimer's disease no_association ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:20208369|REF_RGD_ID:6483065 9012915 Lrp8 LDL receptor related protein 8 gene DOID:1307 dementia ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:mutation: :p.R952Q (human) PMID:17614163|REF_RGD_ID:6483063 9012915 Lrp8 LDL receptor related protein 8 gene DOID:3393 coronary artery disease no_association ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R952Q (human) PMID:18592168|REF_RGD_ID:2306125 9012915 Lrp8 LDL receptor related protein 8 gene DOID:3393 coronary artery disease onset ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R952Q (human) PMID:17847002|REF_RGD_ID:2306124 9012915 Lrp8 LDL receptor related protein 8 gene DOID:5419 schizophrenia ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:SNP, missense mutation:exon, cds: (rs2297660, rs3737983) (human) PMID:22419519|REF_RGD_ID:6483059 9012915 Lrp8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction ISO RGD:1313932 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 PMID:17847002 9012915 Lrp8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction no_association ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R952Q (human) PMID:18592168|REF_RGD_ID:2306125 9012915 Lrp8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction onset ISO RGD:1313932 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R952Q (human) PMID:17847002|REF_RGD_ID:2306124 9012915 Lrp8 LDL receptor related protein 8 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1313932 D RGD:7240710 20190502 OMIM 9012915 Lrp8 LDL receptor related protein 8 gene DOID:630 genetic disease ISO RGD:1313932 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012915 Lrp8 LDL receptor related protein 8 gene DOID:9002955 Nerve Degeneration ISO RGD:1313932 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18172410 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0050451 Brugada syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25637381|PMID:25741868|PMID:28341588|PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0050700 cardiomyopathy ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23623143|PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27182706|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28341588|PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0060224 atrial fibrillation ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0060319 cardiac arrest ISO RGD:737126 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0060480 left ventricular noncompaction ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0110225 Brugada syndrome 8 ISO RGD:737126 D RGD:7240710 20240320 OMIM 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:0110225 Brugada syndrome 8 ISO RGD:737126 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:12750403|PMID:15123648|PMID:16199547|PMID:17576681|PMID:17646576|PMID:19165230|PMID:19748888|PMID:20662977|PMID:20693575|PMID:21615589|PMID:22840528|PMID:23075627|PMID:23178648|PMID:23623143|PMID:23631727|PMID:23861362|PMID:24033266|PMID:24492017|PMID:24569893|PMID:24607718|PMID:25145517|PMID:25145518|PMID:25145519|PMID:25467552|PMID:25642760|PMID:25741868|PMID:25865493|PMID:26206080|PMID:26383259|PMID:26467025|PMID:26688388|PMID:26704558|PMID:27173043|PMID:27182706|PMID:27439367|PMID:27553229|PMID:27659478|PMID:27930701|PMID:28086167|PMID:28104484|PMID:28182231|PMID:28204831|PMID:28254188|PMID:28254189|PMID:28255936|PMID:28341588|PMID:28350118|PMID:28492532|PMID:28750076|PMID:28803248|PMID:28855170|PMID:29032884|PMID:29247119|PMID:29255176|PMID:29447731|PMID:30196304|PMID:30391667|PMID:30452770|PMID:30471092|PMID:30578647|PMID:30662450|PMID:30821013|PMID:30847666|PMID:30975432|PMID:30986657|PMID:31043699|PMID:31731876|PMID:31737537|PMID:32508047|PMID:32577394|PMID:32600061|PMID:32659924|PMID:33008772|PMID:33082984|PMID:33500567|PMID:33587123|PMID:34088380|PMID:36244448|PMID:9536098 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:737126 D RGD:9068941 20200609 RGD PMID:22683190|REF_RGD_ID:9693691 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:737126 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532|PMID:28803248|PMID:29255176 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28341588|PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:737126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:2717 Bloom syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:2843 long QT syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:3320 Tay-Sachs disease ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:5419 schizophrenia ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:6000 congestive heart failure ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:630 genetic disease ISO RGD:737126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:737126 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532|PMID:32659924 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:737126 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:17646576|PMID:20662977|PMID:24569893|PMID:25741868|PMID:26688388|PMID:28254188|PMID:28492532|PMID:28803248|PMID:28807990|PMID:28855170|PMID:32600061|PMID:33082984|PMID:34540771 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9002486 Idiopathic Generalized Epilepsy 18 ISO RGD:737126 D RGD:7240710 20240320 OMIM 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9002486 Idiopathic Generalized Epilepsy 18 ISO RGD:737126 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 18 PMID:23623143|PMID:24033266|PMID:24607718|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27182706|PMID:28254189|PMID:28341588|PMID:28492532|PMID:28803248|PMID:29255176|PMID:30127718|PMID:30196304|PMID:30452770|PMID:30847666 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25741868|PMID:28341588|PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant ISO RGD:737126 D RGD:7240710 20240320 OMIM 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant ISO RGD:737126 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:12750403|PMID:15123648|PMID:16407510|PMID:17576681|PMID:17646576|PMID:19748888|PMID:20662977|PMID:20693575|PMID:21615589|PMID:23075627|PMID:23623143|PMID:23631727|PMID:23861362|PMID:24033266|PMID:24492017|PMID:24569893|PMID:24607718|PMID:25145517|PMID:25145518|PMID:25145519|PMID:25467552|PMID:25642760|PMID:25741868|PMID:26206080|PMID:26467025|PMID:26688388|PMID:27173043|PMID:27182706|PMID:27439367|PMID:27553229|PMID:27659478|PMID:27930701|PMID:28086167|PMID:28104484|PMID:28182231|PMID:28204831|PMID:28254188|PMID:28254189|PMID:28341588|PMID:28350118|PMID:28492532|PMID:28803248|PMID:29255176|PMID:29447731|PMID:30196304|PMID:30452770|PMID:30471092|PMID:30847666|PMID:31043699|PMID:32508047|PMID:33500567|PMID:9536098 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:71065 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:myocyte: PMID:19471099|REF_RGD_ID:9693689 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9005141 Ventricular Tachycardia ISO RGD:737126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17576681|PMID:19165230|PMID:23861362|PMID:25145518|PMID:25145519|PMID:25642760|PMID:25741868|PMID:26467025|PMID:27173043|PMID:27659478|PMID:28104484|PMID:28182231|PMID:28254189|PMID:28492532|PMID:30986657|PMID:9536098 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9007925 Sudden Cardiac Death ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:21615589|PMID:23623143|PMID:23861362|PMID:24033266|PMID:24569893|PMID:25145517|PMID:25467552|PMID:25642760|PMID:25741868|PMID:26467025|PMID:28492532 9012944 Hcn4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 gene DOID:9256 colorectal cancer ISO RGD:737126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9012956 Prkca protein kinase C alpha gene DOID:0060074 ductal carcinoma in situ ISO RGD:737062 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:15454252|REF_RGD_ID:2292458 9012956 Prkca protein kinase C alpha gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 9012956 Prkca protein kinase C alpha gene DOID:0080820 occupational asthma ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27504716 9012956 Prkca protein kinase C alpha gene DOID:10286 prostate carcinoma ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:9474241|REF_RGD_ID:2292463 9012956 Prkca protein kinase C alpha gene DOID:10763 hypertension ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 9012956 Prkca protein kinase C alpha gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:737062 D RGD:9068941 20200609 RGD protein:altered localization:urinary bladder PMID:15922420|REF_RGD_ID:2298669 9012956 Prkca protein kinase C alpha gene DOID:11054 urinary bladder cancer severity ISO RGD:737062 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:16008942|REF_RGD_ID:2292455 9012956 Prkca protein kinase C alpha gene DOID:12387 nephrogenic diabetes insipidus ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25006961 9012956 Prkca protein kinase C alpha gene DOID:12930 dilated cardiomyopathy ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:9918525|REF_RGD_ID:1581274 9012956 Prkca protein kinase C alpha gene DOID:2316 brain ischemia ISO RGD:3395 D RGD:9068941 20200609 RGD associated with Subarachnoid Hemorrhage;protein:increased phosphorylation:cerebral artery PMID:18032736|REF_RGD_ID:2293301 9012956 Prkca protein kinase C alpha gene DOID:2394 ovarian cancer ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:10589745|REF_RGD_ID:2298671 9012956 Prkca protein kinase C alpha gene DOID:2871 endometrial carcinoma ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:11371124|REF_RGD_ID:2292462 9012956 Prkca protein kinase C alpha gene DOID:3070 high grade glioma ISO RGD:737062 D RGD:9068941 20200609 RGD DNA:gene fusion: : PMID:26671581|REF_RGD_ID:11087038 9012956 Prkca protein kinase C alpha gene DOID:326 ischemia ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:17700073|REF_RGD_ID:2292478 9012956 Prkca protein kinase C alpha gene DOID:3774 chordoid glioma ISO RGD:737062 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.1387G>C,p.D463H(human) PMID:29476136|REF_RGD_ID:13782058 9012956 Prkca protein kinase C alpha gene DOID:4001 ovarian carcinoma severity ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:12888898|REF_RGD_ID:2292460 9012956 Prkca protein kinase C alpha gene DOID:4552 large cell carcinoma ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:9474241|REF_RGD_ID:2292463 9012956 Prkca protein kinase C alpha gene DOID:6000 congestive heart failure ISO RGD:3395 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:heart left ventricle PMID:17556659|REF_RGD_ID:2292480 9012956 Prkca protein kinase C alpha gene DOID:630 genetic disease ISO RGD:737062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012956 Prkca protein kinase C alpha gene DOID:9002234 Pituitary Neoplasms ISO RGD:737062 D RGD:9068941 20200609 RGD DNA:point mutation:somatic:D294G PMID:8077302|REF_RGD_ID:1601471 9012956 Prkca protein kinase C alpha gene DOID:9002245 Intestinal Neoplasms ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11983831 9012956 Prkca protein kinase C alpha gene DOID:9003936 Cardiomegaly ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 9012956 Prkca protein kinase C alpha gene DOID:9003936 Cardiomegaly ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21565836 9012956 Prkca protein kinase C alpha gene DOID:9004009 Reperfusion Injury ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:17905752|REF_RGD_ID:2292474 9012956 Prkca protein kinase C alpha gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:12619877|REF_RGD_ID:1581273 9012956 Prkca protein kinase C alpha gene DOID:9005274 Polyuria ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25006961 9012956 Prkca protein kinase C alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 9012956 Prkca protein kinase C alpha gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:3395 D RGD:9068941 20200609 RGD PMID:15532718|REF_RGD_ID:1581272 9012956 Prkca protein kinase C alpha gene DOID:9008939 Breast Neoplasms ISO RGD:737062 D RGD:9068941 20200609 RGD PMID:17965220|PMID:9474241|REF_RGD_ID:2292446|REF_RGD_ID:2292463 9012956 Prkca protein kinase C alpha gene DOID:9008939 Breast Neoplasms ISO RGD:737062 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:15454252|REF_RGD_ID:2292458 9012979 LOC102027268 chromosome unknown open reading frame, human C1orf116 gene DOID:0050589 inflammatory bowel disease ISO RGD:1604289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease PMID:28492532 9012979 LOC102027268 chromosome unknown open reading frame, human C1orf116 gene DOID:0081150 common variable immunodeficiency 7 ISO RGD:1604289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 PMID:28492532 9012979 LOC102027268 chromosome unknown open reading frame, human C1orf116 gene DOID:12849 autistic disorder ISO RGD:1604289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9012979 LOC102027268 chromosome unknown open reading frame, human C1orf116 gene DOID:1540 parathyroid carcinoma ISO RGD:1604289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9012979 LOC102027268 chromosome unknown open reading frame, human C1orf116 gene DOID:630 genetic disease ISO RGD:1604289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9012979 LOC102027268 chromosome unknown open reading frame, human C1orf116 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1604289 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9012979 LOC102027268 chromosome unknown open reading frame, human C1orf116 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9013002 Prdm4 PR/SET domain 4 gene DOID:630 genetic disease ISO RGD:732265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:0080690 RASopathy ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:0111123 nephronophthisis 15 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1312583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:10283 prostate cancer ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:1059 intellectual disability ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:630 genetic disease ISO RGD:1312583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33501714 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9013025 Dscaml1 DS cell adhesion molecule like 1 gene DOID:9007661 Dwarfism ISO RGD:1312583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9013062 Arl4c ADP ribosylation factor like GTPase 4C gene DOID:0080600 COVID-19 ISO RGD:1345856 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9013062 Arl4c ADP ribosylation factor like GTPase 4C gene DOID:630 genetic disease ISO RGD:1345856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013067 Cyth4 cytohesin 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1345777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9013067 Cyth4 cytohesin 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1345777 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9013067 Cyth4 cytohesin 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1345777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9013067 Cyth4 cytohesin 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1345777 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9013067 Cyth4 cytohesin 4 gene DOID:630 genetic disease ISO RGD:1345777 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013088 Pigg phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) gene DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome ISO RGD:1603213 D RGD:8554872 20230704 ClinVar ClinVar Annotator: match by term: MABRY SYNDROME PMID:25741868|PMID:26996948|PMID:28492532 9013088 Pigg phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) gene DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 ISO RGD:1603213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 PMID:25741868|PMID:26996948|PMID:28492532 9013088 Pigg phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) gene DOID:1826 epilepsy ISO RGD:1603213 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 9013088 Pigg phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) gene DOID:1856 cherubism ISO RGD:1603213 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 9013088 Pigg phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) gene DOID:630 genetic disease ISO RGD:1603213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:31980526|PMID:33921431|PMID:34113002 9013088 Pigg phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1603213 D RGD:7240710 20190315 OMIM 9013088 Pigg phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1603213 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Emm-null phenotype | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:16199547|PMID:17576681|PMID:25741868|PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:31980526|PMID:33763700|PMID:33921431|PMID:34113002|PMID:34535746|PMID:34908758|PMID:3603660|PMID:9536098 9013125 Ncapg2 non-SMC condensin II complex subunit G2 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1603208 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 9013125 Ncapg2 non-SMC condensin II complex subunit G2 gene DOID:12849 autistic disorder ISO RGD:1603208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9013125 Ncapg2 non-SMC condensin II complex subunit G2 gene DOID:14330 Parkinson's disease ISO RGD:1603208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25475535 9013125 Ncapg2 non-SMC condensin II complex subunit G2 gene DOID:630 genetic disease ISO RGD:1603208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013125 Ncapg2 non-SMC condensin II complex subunit G2 gene DOID:9000330 Kahn-Kahn-Katsanis Syndrome ISO RGD:1603208 D RGD:7240710 20190626 OMIM 9013125 Ncapg2 non-SMC condensin II complex subunit G2 gene DOID:9000330 Kahn-Kahn-Katsanis Syndrome ISO RGD:1603208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 3K SYNDROME PMID:25741868|PMID:28492532|PMID:30609410 9013157 Dexi Dexi homolog gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1603056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 9013157 Dexi Dexi homolog gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1603056 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 9013157 Dexi Dexi homolog gene DOID:5812 MHC class II deficiency ISO RGD:1603056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9013157 Dexi Dexi homolog gene DOID:630 genetic disease ISO RGD:1603056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013165 Piwil2 piwi like RNA-mediated gene silencing 2 gene DOID:10608 celiac disease ISO RGD:1315877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 9013165 Piwil2 piwi like RNA-mediated gene silencing 2 gene DOID:630 genetic disease ISO RGD:1315877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013165 Piwil2 piwi like RNA-mediated gene silencing 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1315877 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 9013193 Pde6b phosphodiesterase 6B gene DOID:0050534 congenital stationary night blindness ISO RGD:1322283 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant | ClinVar Annotator: match by term: Congenital stationary night blindness PMID:28492532|PMID:30718709 9013193 Pde6b phosphodiesterase 6B gene DOID:0050572 cone-rod dystrophy ISO RGD:1322283 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy PMID:22334370|PMID:23105016|PMID:24828262|PMID:25525159|PMID:25741868|PMID:27588261|PMID:28492532|PMID:30718709|PMID:34906470|PMID:8394174|PMID:8595886|PMID:9238087 9013193 Pde6b phosphodiesterase 6B gene DOID:0070096 oculocutaneous albinism type II ISO RGD:1322283 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:22334370|PMID:25741868|PMID:27588261|PMID:28492532|PMID:8394174|PMID:8595886 9013193 Pde6b phosphodiesterase 6B gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1322283 D RGD:7240710 20180130 OMIM 9013193 Pde6b phosphodiesterase 6B gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1322283 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18310263|PMID:18723146|PMID:18854872|PMID:20591486|PMID:21147909|PMID:21655355|PMID:22334370|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26667666|PMID:26868535|PMID:26872967|PMID:27596865|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31054281|PMID:31630094|PMID:31877679|PMID:32531858|PMID:33090715|PMID:33673512|PMID:34906470|PMID:35836572|PMID:36460718|PMID:36819107|PMID:7599633|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9536098|PMID:9543643 9013193 Pde6b phosphodiesterase 6B gene DOID:0110863 congenital stationary night blindness autosomal dominant 2 ISO RGD:1322283 D RGD:7240710 20180130 OMIM 9013193 Pde6b phosphodiesterase 6B gene DOID:0110863 congenital stationary night blindness autosomal dominant 2 ISO RGD:1322283 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE PMID:16199547|PMID:17044014|PMID:17576681|PMID:18723146|PMID:22334370|PMID:24033266|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26868535|PMID:27588261|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:30029497|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31877679|PMID:33576794|PMID:33691693|PMID:34906470|PMID:36819107|PMID:7724547|PMID:8075643|PMID:8394174|PMID:8595886|PMID:9536098 9013193 Pde6b phosphodiesterase 6B gene DOID:0111009 cone-rod dystrophy 1 ISO RGD:12073166 D RGD:9068941 20231207 OMIA Retinal atrophy - Cone-rod dystrophy 1 PMID:15064680|PMID:22065099|PMID:24045995|PMID:30050836|PMID:38028226 9013193 Pde6b phosphodiesterase 6B gene DOID:10283 prostate cancer ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9013193 Pde6b phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:25999674|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30718709|PMID:30998820|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098 9013193 Pde6b phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:33090715|PMID:33576794|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643 9013193 Pde6b phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643 9013193 Pde6b phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643 9013193 Pde6b phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27596865|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643 9013193 Pde6b phosphodiesterase 6B gene DOID:10584 retinitis pigmentosa ISO RGD:1322283 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27596865|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31456290|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:35836572|PMID:36460718|PMID:36819107|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643 9013193 Pde6b phosphodiesterase 6B gene DOID:14791 Leber congenital amaurosis ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:33673512 9013193 Pde6b phosphodiesterase 6B gene DOID:1856 cherubism ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 9013193 Pde6b phosphodiesterase 6B gene DOID:4448 macular degeneration ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 9013193 Pde6b phosphodiesterase 6B gene DOID:630 genetic disease ISO RGD:1322283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32531858 9013193 Pde6b phosphodiesterase 6B gene DOID:8466 retinal degeneration ISO RGD:1322283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123450|PMID:17213800|PMID:24586289|PMID:8692941 9013193 Pde6b phosphodiesterase 6B gene DOID:8466 retinal degeneration ISO RGD:1322284 D RGD:9068941 20220825 MouseDO 9013193 Pde6b phosphodiesterase 6B gene DOID:8501 fundus dystrophy ISO RGD:1322283 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25823529|PMID:26355662|PMID:26766544|PMID:27208204|PMID:27353947|PMID:27588261|PMID:27898983|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29641573|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31630094|PMID:3203739|PMID:33090715|PMID:33576794|PMID:33691693|PMID:34906470|PMID:35836572|PMID:36460718|PMID:36819107|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098 9013193 Pde6b phosphodiesterase 6B gene DOID:9002189 High Myopia ISO RGD:1322283 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 9013193 Pde6b phosphodiesterase 6B gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1322283 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 9013193 Pde6b phosphodiesterase 6B gene DOID:9006205 Animal Disease Models ISO RGD:1322283 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17213800 9013223 Kctd19 potassium channel tetramerization domain containing 19 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1349783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9013223 Kctd19 potassium channel tetramerization domain containing 19 gene DOID:630 genetic disease ISO RGD:1349783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013223 Kctd19 potassium channel tetramerization domain containing 19 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1349783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 9013245 Ccdc88a coiled-coil domain containing 88A gene DOID:0080539 PEHO syndrome ISO RGD:1347801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PEHO syndrome | ClinVar Annotator: match by term: PEHO-like syndrome PMID:25741868|PMID:26917597|PMID:28492532 9013245 Ccdc88a coiled-coil domain containing 88A gene DOID:10907 microcephaly ISO RGD:1347801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9013245 Ccdc88a coiled-coil domain containing 88A gene DOID:630 genetic disease ISO RGD:1347801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9013291 Dtwd1 DTW domain containing 1 gene DOID:2717 Bloom syndrome ISO RGD:1604324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9013291 Dtwd1 DTW domain containing 1 gene DOID:630 genetic disease ISO RGD:1604324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013291 Dtwd1 DTW domain containing 1 gene DOID:9256 colorectal cancer ISO RGD:1604324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9013315 Prrg1 proline rich and Gla domain 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9013315 Prrg1 proline rich and Gla domain 1 gene DOID:0110414 retinitis pigmentosa 3 ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 9013315 Prrg1 proline rich and Gla domain 1 gene DOID:12849 autistic disorder ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9013315 Prrg1 proline rich and Gla domain 1 gene DOID:630 genetic disease ISO RGD:1350141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013315 Prrg1 proline rich and Gla domain 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9013315 Prrg1 proline rich and Gla domain 1 gene DOID:9271 ornithine carbamoyltransferase deficiency ISO RGD:1350141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532 9013336 Drc1 dynein regulatory complex subunit 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1605894 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25741868 9013336 Drc1 dynein regulatory complex subunit 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1617201 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 9013336 Drc1 dynein regulatory complex subunit 1 gene DOID:0110596 primary ciliary dyskinesia 21 ISO RGD:1605894 D RGD:7240710 20180130 OMIM 9013336 Drc1 dynein regulatory complex subunit 1 gene DOID:0110596 primary ciliary dyskinesia 21 ISO RGD:1605894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 21 PMID:12746204|PMID:16199547|PMID:23354437|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31270959|PMID:31701675|PMID:31960620 9013336 Drc1 dynein regulatory complex subunit 1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1605894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9013336 Drc1 dynein regulatory complex subunit 1 gene DOID:630 genetic disease ISO RGD:1605894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9013336 Drc1 dynein regulatory complex subunit 1 gene DOID:9000573 Spermatogenic Failure 80 ISO RGD:1605894 D RGD:7240710 20230215 OMIM 9013336 Drc1 dynein regulatory complex subunit 1 gene DOID:9000573 Spermatogenic Failure 80 ISO RGD:1605894 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: DRC1-related condition | ClinVar Annotator: match by term: Spermatogenic failure 80 PMID:23354437|PMID:25741868|PMID:28492532|PMID:31960620|PMID:34169321 9013336 Drc1 dynein regulatory complex subunit 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605894 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:12746204|PMID:16199547|PMID:17576681|PMID:23354437|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31270959|PMID:31701675|PMID:31960620|PMID:9536098 9013373 Lingo3 leucine rich repeat and Ig domain containing 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1354064 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 9013373 Lingo3 leucine rich repeat and Ig domain containing 3 gene DOID:2661 myoepithelioma ISO RGD:1354064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9013373 Lingo3 leucine rich repeat and Ig domain containing 3 gene DOID:630 genetic disease ISO RGD:1354064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013373 Lingo3 leucine rich repeat and Ig domain containing 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9013400 Pgc progastricsin gene DOID:0050444 infantile Refsum disease ISO RGD:735292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9013400 Pgc progastricsin gene DOID:630 genetic disease ISO RGD:735292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013400 Pgc progastricsin gene DOID:905 Zellweger syndrome ISO RGD:735292 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9013428 Mysm1 Myb like, SWIRM and MPN domains 1 gene DOID:614 lymphopenia ISO RGD:1551048 D RGD:9068941 20200609 RGD PMID:22184403|REF_RGD_ID:9589161 9013428 Mysm1 Myb like, SWIRM and MPN domains 1 gene DOID:630 genetic disease ISO RGD:1602839 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9013428 Mysm1 Myb like, SWIRM and MPN domains 1 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:1602839 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snps:introns: IVS1-1269C>T, IVS6+1700G>A (rs2811893, rs12092121) (human) PMID:21310492|REF_RGD_ID:9589162 9013428 Mysm1 Myb like, SWIRM and MPN domains 1 gene DOID:9006327 Bone Marrow Failure Syndrome 4 ISO RGD:1602839 D RGD:7240710 20190315 OMIM 9013428 Mysm1 Myb like, SWIRM and MPN domains 1 gene DOID:9006327 Bone Marrow Failure Syndrome 4 ISO RGD:1602839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 4 | ClinVar Annotator: match by term: MYSM1-related condition PMID:16199547|PMID:22184403|PMID:24288411|PMID:25741868|PMID:26220525|PMID:28115216|PMID:28492532 9013463 Cacng6 calcium voltage-gated channel auxiliary subunit gamma 6 gene DOID:0080822 aspirin-induced respiratory disease susceptibility ISO RGD:735845 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:rs192808(human) PMID:20860846|REF_RGD_ID:13524562 9013463 Cacng6 calcium voltage-gated channel auxiliary subunit gamma 6 gene DOID:630 genetic disease ISO RGD:735845 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013478 Eomes eomesodermin gene DOID:11054 urinary bladder cancer ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 9013478 Eomes eomesodermin gene DOID:2030 anxiety disorder ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26415720 9013478 Eomes eomesodermin gene DOID:438 autoimmune disease of the nervous system ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27742544 9013478 Eomes eomesodermin gene DOID:630 genetic disease ISO RGD:1353316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013478 Eomes eomesodermin gene DOID:9002928 Colonic Neoplasms ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27539959 9013478 Eomes eomesodermin gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1353316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 9013499 Tuft1 tuftelin 1 gene DOID:0080422 Dravet syndrome ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 9013499 Tuft1 tuftelin 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9013499 Tuft1 tuftelin 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9013499 Tuft1 tuftelin 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1321243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9013499 Tuft1 tuftelin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9013499 Tuft1 tuftelin 1 gene DOID:3390 palmoplantar keratosis ISO RGD:1321244 D RGD:9068941 20231019 MouseDO 9013499 Tuft1 tuftelin 1 gene DOID:5812 MHC class II deficiency ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9013499 Tuft1 tuftelin 1 gene DOID:630 genetic disease ISO RGD:1321243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013499 Tuft1 tuftelin 1 gene DOID:9005974 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ISO RGD:1321243 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome PMID:36689522 9013499 Tuft1 tuftelin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9013517 Cxcl17 C-X-C motif chemokine ligand 17 gene DOID:0080600 COVID-19 ISO RGD:1602051 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9013517 Cxcl17 C-X-C motif chemokine ligand 17 gene DOID:5419 schizophrenia ISO RGD:1602051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9013517 Cxcl17 C-X-C motif chemokine ligand 17 gene DOID:630 genetic disease ISO RGD:1602051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013531 Dusp10 dual specificity phosphatase 10 gene DOID:0050439 Usher syndrome ISO RGD:1321979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 9013531 Dusp10 dual specificity phosphatase 10 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1321979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 9013531 Dusp10 dual specificity phosphatase 10 gene DOID:1540 parathyroid carcinoma ISO RGD:1321979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9013531 Dusp10 dual specificity phosphatase 10 gene DOID:4989 pancreatitis ISO RGD:1310844 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11027531|REF_RGD_ID:2301725 9013531 Dusp10 dual specificity phosphatase 10 gene DOID:630 genetic disease ISO RGD:1321979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013531 Dusp10 dual specificity phosphatase 10 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1321980 D RGD:9068941 20200609 RGD PMID:15306813|REF_RGD_ID:7775013 9013531 Dusp10 dual specificity phosphatase 10 gene DOID:9005372 Inflammation ISO RGD:1321979 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17151092 9013531 Dusp10 dual specificity phosphatase 10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9013553 Taf1d TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:1059 intellectual disability ISO RGD:1601854 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9013553 Taf1d TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:37 skin disease ISO RGD:1601854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9013553 Taf1d TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:630 genetic disease ISO RGD:1601854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013553 Taf1d TATA-box binding protein associated factor, RNA polymerase I subunit D gene DOID:9007964 Arsenic Poisoning ISO RGD:1601854 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9013620 Smad4 SMAD family member 4 gene DOID:0050581 brachydactyly ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 9013620 Smad4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:7240710 20180130 OMIM 9013620 Smad4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27562837|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:35307828|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:19135894|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21572342|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28827661|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29230941|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29773710|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32175297|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:33824467|PMID:35307828|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9389648|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:19135894|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21572342|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28827661|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29230941|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29773710|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32175297|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:35307828|PMID:35943490|PMID:36194927|PMID:36243179|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9389648|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:0050787 juvenile polyposis syndrome ISO RGD:1352527 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12801888|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15314162|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16287957|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:19135894|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21421563|PMID:21465659|PMID:21515830|PMID:21572342|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24525918|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25373906|PMID:25502805|PMID:25523272|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28827661|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29230941|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29773710|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31645765|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32175297|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33428109|PMID:33745841|PMID:33824467|PMID:34130653|PMID:34326862|PMID:35307828|PMID:35943490|PMID:36194927|PMID:36243179|PMID:7296942|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9389648|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:0050860 colorectal adenoma ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:increased expression:mucosa PMID:11480790|REF_RGD_ID:21066339 9013620 Smad4 SMAD family member 4 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:24680176|REF_RGD_ID:12903951 9013620 Smad4 SMAD family member 4 gene DOID:0080000 muscular disease ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 9013620 Smad4 SMAD family member 4 gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:26861460|REF_RGD_ID:21066335 9013620 Smad4 SMAD family member 4 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:29696816|REF_RGD_ID:18937002 9013620 Smad4 SMAD family member 4 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:69092 D RGD:9068941 20200609 RGD PMID:29696816|REF_RGD_ID:18937002 9013620 Smad4 SMAD family member 4 gene DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ISO RGD:1352527 D RGD:7240710 20180130 OMIM 9013620 Smad4 SMAD family member 4 gene DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome ISO RGD:1352527 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI PMID:10398437|PMID:10441006|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12116240|PMID:12417513|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15754356|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:21153778|PMID:21465659|PMID:21515830|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26689913|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27023170|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28406602|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28655553|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29230941|PMID:29634562|PMID:29684080|PMID:29743074|PMID:30210120|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31684910|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32175297|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33428109|PMID:33745841|PMID:33824467|PMID:34326862|PMID:35943490|PMID:36194927|PMID:36243179|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:10534 stomach cancer ISO RGD:1352527 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:36988593 9013620 Smad4 SMAD family member 4 gene DOID:1059 intellectual disability ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11977156|PMID:22158539|PMID:22243968|PMID:22585601|PMID:22683461|PMID:24398790|PMID:25741868|PMID:26636501|PMID:27302097|PMID:28406602|PMID:28492532|PMID:29230941|PMID:30921096|PMID:31837202|PMID:32175297|PMID:36194927 9013620 Smad4 SMAD family member 4 gene DOID:11054 urinary bladder cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:11783019|REF_RGD_ID:2299972 9013620 Smad4 SMAD family member 4 gene DOID:1107 esophageal carcinoma ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:1107 esophageal carcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:12347 osteogenesis imperfecta ISO RGD:69092 D RGD:9068941 20220825 MouseDO 9013620 Smad4 SMAD family member 4 gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:1352527 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome PMID:25741868|PMID:28492532 9013620 Smad4 SMAD family member 4 gene DOID:1324 lung cancer ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:21515830|PMID:24465805|PMID:26253951 9013620 Smad4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10790223|PMID:15288293|PMID:21835029|PMID:22703879|PMID:23399955|PMID:24465802|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26580448|PMID:27146957|PMID:27153395|PMID:27443514|PMID:28196074|PMID:28492532|PMID:28726808|PMID:28873162|PMID:29069792|PMID:29212164|PMID:29743074|PMID:30426508|PMID:30719162|PMID:30842500|PMID:31159747|PMID:31758407|PMID:32066632|PMID:32068069|PMID:32573726|PMID:33745841 9013620 Smad4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32165824|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25326637|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33745841|PMID:33824467|PMID:35943490|PMID:36243179|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1352527 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33428109|PMID:33745841|PMID:33824467|PMID:34130653|PMID:34326862|PMID:35943490|PMID:36243179|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:14654 prostatitis ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:20608350|REF_RGD_ID:12880046 9013620 Smad4 SMAD family member 4 gene DOID:1520 colon carcinoma ISO RGD:1352527 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma PMID:10398437|PMID:11920286|PMID:15235019|PMID:16152648|PMID:16436638|PMID:17873119|PMID:18355998|PMID:18823382|PMID:20301642|PMID:22316667|PMID:22748914|PMID:22810475|PMID:22875147|PMID:23239472|PMID:23399955|PMID:24033266|PMID:25741868|PMID:26171675|PMID:26467025|PMID:26681312|PMID:27375208|PMID:27613157|PMID:28492532|PMID:28944238|PMID:29634562|PMID:30210120|PMID:33097490|PMID:35943490|PMID:9582123 9013620 Smad4 SMAD family member 4 gene DOID:1561 cognitive disorder ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 9013620 Smad4 SMAD family member 4 gene DOID:1612 breast cancer ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:26467025|PMID:28492532 9013620 Smad4 SMAD family member 4 gene DOID:1793 pancreatic cancer ISO RGD:1352527 D RGD:7240710 20180130 OMIM 9013620 Smad4 SMAD family member 4 gene DOID:2154 nephroblastoma ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephroblastoma PMID:25741868|PMID:28492532 9013620 Smad4 SMAD family member 4 gene DOID:219 colon cancer severity ISO RGD:1352527 D RGD:9068941 20220623 RGD mRNA:decreased expression:colon (human) PMID:31932471|REF_RGD_ID:152995462 9013620 Smad4 SMAD family member 4 gene DOID:219 colon cancer treatment ISO RGD:3033 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 9013620 Smad4 SMAD family member 4 gene DOID:2213 hemorrhagic disease ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 9013620 Smad4 SMAD family member 4 gene DOID:2394 ovarian cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:10451707|REF_RGD_ID:2299976 9013620 Smad4 SMAD family member 4 gene DOID:2394 ovarian cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:16951150|REF_RGD_ID:2299979 9013620 Smad4 SMAD family member 4 gene DOID:2526 prostate adenocarcinoma ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prostate adenocarcinoma PMID:12116240|PMID:15031030|PMID:26619011|PMID:6604412 9013620 Smad4 SMAD family member 4 gene DOID:2671 transitional cell carcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:16859125|REF_RGD_ID:2299980 9013620 Smad4 SMAD family member 4 gene DOID:2871 endometrial carcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD DNA:substitutions:promoter PMID:10331746|REF_RGD_ID:2300009 9013620 Smad4 SMAD family member 4 gene DOID:2871 endometrial carcinoma severity ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:decreased expression:endometrium PMID:15385128|REF_RGD_ID:2299966 9013620 Smad4 SMAD family member 4 gene DOID:3008 invasive ductal carcinoma ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20565773 9013620 Smad4 SMAD family member 4 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:18375249|REF_RGD_ID:9999419 9013620 Smad4 SMAD family member 4 gene DOID:3119 gastrointestinal system cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with Juvenile Polyposis Syndrome PMID:25389115|REF_RGD_ID:12880036 9013620 Smad4 SMAD family member 4 gene DOID:3121 gallbladder cancer ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gallbladder cancer PMID:10479724|PMID:10764709|PMID:16152648|PMID:16436638|PMID:21465659|PMID:22810475|PMID:23239472|PMID:25931195|PMID:26689913|PMID:28492532 9013620 Smad4 SMAD family member 4 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:15173084|REF_RGD_ID:21066334 9013620 Smad4 SMAD family member 4 gene DOID:3717 gastric adenocarcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of stomach PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:22558986|REF_RGD_ID:12880048 9013620 Smad4 SMAD family member 4 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:3033 D RGD:9068941 20200609 RGD associated with Silicosis PMID:21941776|REF_RGD_ID:12880047 9013620 Smad4 SMAD family member 4 gene DOID:3883 Lynch syndrome ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:10819637|REF_RGD_ID:1599900 9013620 Smad4 SMAD family member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1352527 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:4074 pancreatic adenocarcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:4362 cervical cancer ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:12894231|REF_RGD_ID:2299968 9013620 Smad4 SMAD family member 4 gene DOID:4440 seminoma ISO RGD:1352527 D RGD:9068941 20200609 RGD DNA, protein:insertion, decreased expression:1521insT PMID:10706106|REF_RGD_ID:2299975 9013620 Smad4 SMAD family member 4 gene DOID:4450 renal cell carcinoma severity ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:11332076|REF_RGD_ID:2299973 9013620 Smad4 SMAD family member 4 gene DOID:4905 pancreatic carcinoma ISO RGD:1352527 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:10398437|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11920286|PMID:11977156|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22748914|PMID:22810475|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24580733|PMID:24715504|PMID:24841914|PMID:25186627|PMID:25559809|PMID:25741868|PMID:25980754|PMID:26171675|PMID:26467025|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26900293|PMID:26956206|PMID:27302097|PMID:27375208|PMID:27595937|PMID:27978560|PMID:28135145|PMID:28283864|PMID:28406602|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28944238|PMID:29230941|PMID:29634562|PMID:29684080|PMID:30210120|PMID:30719162|PMID:30809044|PMID:30921096|PMID:30968316|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32175297|PMID:32300199|PMID:33097490|PMID:33428109|PMID:33824467|PMID:34326862|PMID:35943490|PMID:36194927|PMID:8653691|PMID:8898652|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:4914 esophagus adenocarcinoma ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23525077|PMID:24952744 9013620 Smad4 SMAD family member 4 gene DOID:4928 intrahepatic cholangiocarcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:intrahepatic bile duct PMID:16917866|REF_RGD_ID:18936999 9013620 Smad4 SMAD family member 4 gene DOID:4928 intrahepatic cholangiocarcinoma disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:23981608|REF_RGD_ID:21066336 9013620 Smad4 SMAD family member 4 gene DOID:4947 cholangiocarcinoma ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 9013620 Smad4 SMAD family member 4 gene DOID:520 aortic disease ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with Juvenile Polyposis Syndrome PMID:25931195|REF_RGD_ID:11062588 9013620 Smad4 SMAD family member 4 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1352527 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9013620 Smad4 SMAD family member 4 gene DOID:5844 myocardial infarction treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:11087260|REF_RGD_ID:12903276 9013620 Smad4 SMAD family member 4 gene DOID:6225 Cronkhite-Canada syndrome ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal polyposis PMID:21835029|PMID:22703879|PMID:23399955|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25589618|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27153395|PMID:27443514|PMID:28196074|PMID:28492532|PMID:30842500|PMID:32573726 9013620 Smad4 SMAD family member 4 gene DOID:630 genetic disease ISO RGD:1352527 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11977156|PMID:17576681|PMID:22158539|PMID:22243968|PMID:22585601|PMID:22683461|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24580733|PMID:24715504|PMID:24841914|PMID:25741868|PMID:26633542|PMID:26636501|PMID:27302097|PMID:28406602|PMID:28492532|PMID:28628100|PMID:29230941|PMID:30921096|PMID:30968316|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31837202|PMID:32175297|PMID:33428109|PMID:36194927|PMID:9536098 9013620 Smad4 SMAD family member 4 gene DOID:6432 pulmonary hypertension ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:17347486|PMID:18367643|REF_RGD_ID:12903274|REF_RGD_ID:1643222 9013620 Smad4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:22799322|REF_RGD_ID:21066341 9013620 Smad4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:29924446|REF_RGD_ID:21066342 9013620 Smad4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:18971187|REF_RGD_ID:12880056 9013620 Smad4 SMAD family member 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:23922662|REF_RGD_ID:18182921 9013620 Smad4 SMAD family member 4 gene DOID:8552 chronic myeloid leukemia ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:29951173|REF_RGD_ID:13782079 9013620 Smad4 SMAD family member 4 gene DOID:8634 prostate carcinoma in situ ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:15017584|REF_RGD_ID:2300005 9013620 Smad4 SMAD family member 4 gene DOID:8725 vascular dementia ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:28492532|PMID:35307828 9013620 Smad4 SMAD family member 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:11809701|REF_RGD_ID:2300007 9013620 Smad4 SMAD family member 4 gene DOID:9000099 Experimental Colitis susceptibility ISO RGD:69092 D RGD:9068941 20200609 RGD PMID:23090737|REF_RGD_ID:12880038 9013620 Smad4 SMAD family member 4 gene DOID:9000217 Stomach Neoplasms ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21105199 9013620 Smad4 SMAD family member 4 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:1352527 D RGD:7240710 20180130 OMIM 9013620 Smad4 SMAD family member 4 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:1352527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome PMID:10398437|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:11274206|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:21153778|PMID:21515830|PMID:21835029|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24841914|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26467025|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28283864|PMID:28406602|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29230941|PMID:29634562|PMID:29684080|PMID:30210120|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32175297|PMID:32300199|PMID:32573726|PMID:33824467|PMID:36194927|PMID:7296942|PMID:8898652|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9000838 Growth Mental Deficiency Syndrome of Myhre ISO RGD:1352527 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome PMID:10398437|PMID:10479724|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:11274206|PMID:11782434|PMID:11920286|PMID:11977156|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:21515830|PMID:21835029|PMID:22158539|PMID:22243968|PMID:22316667|PMID:22331366|PMID:22585601|PMID:22683461|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22875147|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24465805|PMID:24580733|PMID:24715504|PMID:24841914|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25980754|PMID:26171675|PMID:26253951|PMID:26467025|PMID:26619011|PMID:26633542|PMID:26636501|PMID:26681312|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28283864|PMID:28406602|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29230941|PMID:29634562|PMID:29684080|PMID:30210120|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30921096|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32175297|PMID:32300199|PMID:32573726|PMID:33097490|PMID:33428109|PMID:33824467|PMID:34326862|PMID:35943490|PMID:36194927|PMID:7296942|PMID:8898652|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with colorectal carcinoma;DNA:mutation:cds: PMID:10340381|REF_RGD_ID:21066333 9013620 Smad4 SMAD family member 4 gene DOID:9001402 Acro-Osteolysis ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with Juvenile Polyposis Syndrome;DNA:nonsense mutation:exon:p.Y412X (1236C>G) (human) PMID:15990641|REF_RGD_ID:12880041 9013620 Smad4 SMAD family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16570350 9013620 Smad4 SMAD family member 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:19824107|REF_RGD_ID:12903949 9013620 Smad4 SMAD family member 4 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1352527 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25559809|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29684080 9013620 Smad4 SMAD family member 4 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3033 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 9013620 Smad4 SMAD family member 4 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1352527 D RGD:9068941 20200609 RGD PMID:15042598|REF_RGD_ID:2299981 9013620 Smad4 SMAD family member 4 gene DOID:9002350 Hereditary Hemorrhagic Telangiectasia, Type 1 ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 9013620 Smad4 SMAD family member 4 gene DOID:9002504 Odontogenic Cysts ISO RGD:69092 D RGD:9068941 20200609 RGD PMID:19703995|REF_RGD_ID:12880040 9013620 Smad4 SMAD family member 4 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 9013620 Smad4 SMAD family member 4 gene DOID:9003295 Heterotopic Ossification ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:19940863|REF_RGD_ID:12880052 9013620 Smad4 SMAD family member 4 gene DOID:9003342 Microphthalmia, Cataracts, and Iris Abnormalities ISO RGD:69092 D RGD:9068941 20200609 RGD PMID:20735985|REF_RGD_ID:12880033 9013620 Smad4 SMAD family member 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1352527 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:29924446|REF_RGD_ID:21066342 9013620 Smad4 SMAD family member 4 gene DOID:9004739 Cicatrix treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:21255090|REF_RGD_ID:12880045 9013620 Smad4 SMAD family member 4 gene DOID:9006113 Gallstones ISO RGD:1352527 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:intrahepatic bile duct PMID:16917866|REF_RGD_ID:18936999 9013620 Smad4 SMAD family member 4 gene DOID:9006618 Liver Metastasis ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with colorectal carcinoma;protein:decreased expression:colorectum: PMID:17390050|REF_RGD_ID:21066338 9013620 Smad4 SMAD family member 4 gene DOID:9006618 Liver Metastasis treatment ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with colorectal carcinoma; DNA:mutations: : PMID:29551247|REF_RGD_ID:18937000 9013620 Smad4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15754356|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22316667|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28655553|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29684080|PMID:29743074|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15754356|PMID:16152648|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22316667|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28628100|PMID:28655553|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29684080|PMID:29743074|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22316667|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25326637|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33745841|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352527 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10398437|PMID:10441006|PMID:10479724|PMID:10647180|PMID:10764709|PMID:10775259|PMID:10790223|PMID:10797267|PMID:10822381|PMID:11274206|PMID:11583957|PMID:11782434|PMID:11920286|PMID:12417513|PMID:12686552|PMID:12740389|PMID:12821112|PMID:14526373|PMID:14647410|PMID:14715079|PMID:14750902|PMID:15014009|PMID:15031030|PMID:15235019|PMID:15288293|PMID:15350224|PMID:15637079|PMID:15754356|PMID:16152648|PMID:16199547|PMID:16436638|PMID:16613914|PMID:17362581|PMID:17576681|PMID:17873119|PMID:17994767|PMID:18178612|PMID:18355998|PMID:18823382|PMID:20101697|PMID:20147459|PMID:20301642|PMID:20685751|PMID:21153778|PMID:21465659|PMID:21835029|PMID:21898662|PMID:22158539|PMID:22316667|PMID:22331366|PMID:22561520|PMID:22703879|PMID:22748914|PMID:22810475|PMID:22826269|PMID:22843233|PMID:22875147|PMID:23139211|PMID:23239472|PMID:23399955|PMID:23559152|PMID:23805858|PMID:24033266|PMID:24312718|PMID:24398790|PMID:24424121|PMID:24465802|PMID:24580733|PMID:24715504|PMID:24728327|PMID:24763289|PMID:24841914|PMID:24983367|PMID:25148578|PMID:25186627|PMID:25252015|PMID:25318351|PMID:25502805|PMID:25559809|PMID:25589618|PMID:25637381|PMID:25695693|PMID:25741868|PMID:25742471|PMID:25931195|PMID:25980754|PMID:26171675|PMID:26387786|PMID:26467025|PMID:26572829|PMID:26580448|PMID:26614708|PMID:26619011|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26900293|PMID:26956206|PMID:26976419|PMID:27079212|PMID:27146957|PMID:27153395|PMID:27302097|PMID:27375208|PMID:27443514|PMID:27595937|PMID:27611364|PMID:27613157|PMID:27978560|PMID:28135145|PMID:28196074|PMID:28199989|PMID:28283864|PMID:28440963|PMID:28481359|PMID:28492532|PMID:28528518|PMID:28539465|PMID:28628100|PMID:28655553|PMID:28685087|PMID:28693246|PMID:28716708|PMID:28726808|PMID:28873162|PMID:28944238|PMID:29069792|PMID:29212164|PMID:29234012|PMID:29634562|PMID:29684080|PMID:29707409|PMID:29743074|PMID:29955155|PMID:30210120|PMID:30251589|PMID:30256826|PMID:30267214|PMID:30426508|PMID:30719162|PMID:30809044|PMID:30842500|PMID:30968316|PMID:31159747|PMID:31474762|PMID:31515488|PMID:31595668|PMID:31654632|PMID:31758407|PMID:31837202|PMID:32066632|PMID:32068069|PMID:32300199|PMID:32459922|PMID:32573726|PMID:32944796|PMID:32973888|PMID:33097490|PMID:33428109|PMID:33745841|PMID:33824467|PMID:34130653|PMID:34326862|PMID:35943490|PMID:36243179|PMID:8665501|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9536098|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9007329 Human Viral Hepatitis ISO RGD:1352527 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma; protein:altered expression:liver PMID:22799322|REF_RGD_ID:21066341 9013620 Smad4 SMAD family member 4 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:22913380|REF_RGD_ID:12903950 9013620 Smad4 SMAD family member 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12116240|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:6604412|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9008681 Deafness ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 9013620 Smad4 SMAD family member 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1352527 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158539 9013620 Smad4 SMAD family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352527 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast Neoplasms PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1352527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm PMID:10479724|PMID:10764709|PMID:10775259|PMID:10797267|PMID:11274206|PMID:11583957|PMID:12821112|PMID:14715079|PMID:15014009|PMID:15031030|PMID:15235019|PMID:16613914|PMID:17873119|PMID:17994767|PMID:18823382|PMID:20101697|PMID:20301642|PMID:22316667|PMID:22331366|PMID:25741868|PMID:26572829|PMID:26619011|PMID:26900293|PMID:27595937|PMID:28492532|PMID:31837202|PMID:32300199|PMID:32573726|PMID:32944796|PMID:8898652|PMID:9214508|PMID:9285566|PMID:9582123|PMID:9679244|PMID:9811934 9013620 Smad4 SMAD family member 4 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1352527 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:21898662|PMID:24728327|PMID:25502805|PMID:25559809|PMID:25741868|PMID:26387786|PMID:26467025|PMID:28492532|PMID:29684080|PMID:31515488 9013620 Smad4 SMAD family member 4 gene DOID:9256 colorectal cancer ISO RGD:1352527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532 9013620 Smad4 SMAD family member 4 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3033 D RGD:9068941 20200609 RGD PMID:25017203|REF_RGD_ID:12880049 9013641 Serpinh1 serpin family H member 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:732731 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 9013641 Serpinh1 serpin family H member 1 gene DOID:0110346 osteogenesis imperfecta type 10 ISO RGD:732731 D RGD:7240710 20240313 OMIM 9013641 Serpinh1 serpin family H member 1 gene DOID:0110346 osteogenesis imperfecta type 10 ISO RGD:732731 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: OI, TYPE X | ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 PMID:20188343|PMID:25510505|PMID:25741868|PMID:28492532|PMID:32161841 9013641 Serpinh1 serpin family H member 1 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:732731 D RGD:7240710 20240313 OMIM 9013641 Serpinh1 serpin family H member 1 gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:732731 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of the membranes PMID:16938879|PMID:25741868|PMID:28492532|PMID:32161841 9013641 Serpinh1 serpin family H member 1 gene DOID:1059 intellectual disability ISO RGD:732731 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9013641 Serpinh1 serpin family H member 1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 9013641 Serpinh1 serpin family H member 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:732731 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 9013641 Serpinh1 serpin family H member 1 gene DOID:326 ischemia ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458120 9013641 Serpinh1 serpin family H member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 9013641 Serpinh1 serpin family H member 1 gene DOID:5082 liver cirrhosis ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24321339 9013641 Serpinh1 serpin family H member 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:732731 D RGD:9068941 20210212 RGD associated with Schistosomiasis Japonica;mRNA:increased expression:liver (human) PMID:24295791|REF_RGD_ID:41410784 9013641 Serpinh1 serpin family H member 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:732731 D RGD:9068941 20210212 RGD associated with schistosomiasis;mRNA:increased expression:liver (human) PMID:25111595|REF_RGD_ID:41410780 9013641 Serpinh1 serpin family H member 1 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:737440 D RGD:9068941 20210219 RGD associated with Schistosomiasis Japonica PMID:31612672|REF_RGD_ID:41412161 9013641 Serpinh1 serpin family H member 1 gene DOID:5082 liver cirrhosis treatment ISO RGD:737440 D RGD:9068941 20210212 RGD associated with Schistosomiasis Japonica PMID:24295791|PMID:32410640|REF_RGD_ID:41410784|REF_RGD_ID:41410785 9013641 Serpinh1 serpin family H member 1 gene DOID:630 genetic disease ISO RGD:732731 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9013641 Serpinh1 serpin family H member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732731 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18376398|PMID:25380136 9013641 Serpinh1 serpin family H member 1 gene DOID:9002433 Schistosomiasis Japonica ISO RGD:737440 D RGD:9068941 20210219 RGD mRNA,protein:increased expression:liver, serum (mouse) PMID:31612672|REF_RGD_ID:41412161 9013641 Serpinh1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis disease_progression ISO RGD:69302 D RGD:9068941 20210212 RGD protein:increased expression:peritoneum (rat) PMID:12691502|REF_RGD_ID:41410779 9013641 Serpinh1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:69302 D RGD:9068941 20210212 RGD PMID:12911538|PMID:32585450|REF_RGD_ID:41410781|REF_RGD_ID:41410783 9013641 Serpinh1 serpin family H member 1 gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:737440 D RGD:9068941 20210212 RGD PMID:15458466|REF_RGD_ID:41410782 9013652 Utp18 UTP18 small subunit processome component gene DOID:630 genetic disease ISO RGD:1349005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0050645 arterial tortuosity syndrome ISO RGD:1349728 D RGD:9068941 20210305 RGD DNA:missense mutation:CDS:p.D203A (human) PMID:22943132|REF_RGD_ID:42722010 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1349728 D RGD:7240710 20180130 OMIM 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1349728 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:15776121|PMID:16199547|PMID:16685658|PMID:17576681|PMID:17937443|PMID:19664000|PMID:2038931|PMID:20389311|PMID:21563328|PMID:22440127|PMID:22943132|PMID:23532871|PMID:24033266|PMID:24276535|PMID:25741868|PMID:25907466|PMID:26017485|PMID:27339457|PMID:28454995|PMID:28492532|PMID:28673110|PMID:29620724|PMID:30140196|PMID:31127727|PMID:31589614|PMID:34901216|PMID:8985490|PMID:9536098 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0070135 autosomal recessive cutis laxa type IA ISO RGD:1349728 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A PMID:15776121|PMID:16685658|PMID:17937443|PMID:19664000|PMID:20389311|PMID:21563328|PMID:22943132|PMID:23532871|PMID:24033266|PMID:24276535|PMID:25741868|PMID:25907466|PMID:27339457|PMID:28492532|PMID:31589614|PMID:34901216|PMID:8985490 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:0080685 aortic dissection ISO RGD:1349728 D RGD:9068941 20210305 RGD mRNA, protein:decreased expression:aorta wall (human) PMID:23518852|REF_RGD_ID:42722606 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1059 intellectual disability ISO RGD:1349728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1380 endometrial cancer ameliorates ISO RGD:1349728 D RGD:9068941 20210305 RGD human EFEMP2 knockdown cell line in a mouse model PMID:28177909|REF_RGD_ID:42722012 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1380 endometrial cancer exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD protein:decreased expression:endometrium (human) PMID:28177909|REF_RGD_ID:42722012 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1349728 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:21563328|PMID:24033266|PMID:25741868|PMID:26017485|PMID:28492532 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1349728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:2394 ovarian cancer exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD mRNA, protein:increased expression:ovary (human) PMID:25885889|REF_RGD_ID:42722014 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:2746 glycogen storage disease V ISO RGD:1349728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:2893 cervix carcinoma exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD mRNA, protein:increased expression:cervix epithelium (human) PMID:24737201|REF_RGD_ID:42722607 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3144 cutis laxa ISO RGD:1551771 D RGD:9068941 20220825 MouseDO OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3347 osteosarcoma exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD human EFEMP2 knockdown cell line in a mouse model PMID:28339091|REF_RGD_ID:42722011 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3376 bone osteosarcoma disease_progression ISO RGD:1349728 D RGD:9068941 20210305 RGD protein:increased expression:bone tissue (human) PMID:27157136|REF_RGD_ID:42722013 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3376 bone osteosarcoma exacerbates ISO RGD:1349728 D RGD:9068941 20210305 RGD mRNA, protein:increased expression:bone tissue (human ) PMID:28339091|REF_RGD_ID:42722011 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3627 aortic aneurysm ISO RGD:1349728 D RGD:9068941 20210305 RGD DNA:missense mutation:CDS:p.E161K (human) PMID:22440127|REF_RGD_ID:42722009 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:3627 aortic aneurysm ISO RGD:1551771 D RGD:9068941 20220825 MouseDO 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:630 genetic disease ISO RGD:1349728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:8398 osteoarthritis ISO RGD:1359496 D RGD:9068941 20210305 RGD mRNA:increased expression:articular cartilage of joint (rat) PMID:31396630|REF_RGD_ID:42722015 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1349728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17929269 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1349728 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9013676 Efemp2 EGF containing fibulin extracellular matrix protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1349728 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 9013697 Wdr77 WD repeat domain 77 gene DOID:630 genetic disease ISO RGD:1604293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013697 Wdr77 WD repeat domain 77 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1604293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022581 9013716 Slc31a1 solute carrier family 31 member 1 gene DOID:1059 intellectual disability ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 9013716 Slc31a1 solute carrier family 31 member 1 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:735684 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:19656261|REF_RGD_ID:13524567 9013716 Slc31a1 solute carrier family 31 member 1 gene DOID:630 genetic disease ISO RGD:735683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013716 Slc31a1 solute carrier family 31 member 1 gene DOID:6432 pulmonary hypertension ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24614111 9013716 Slc31a1 solute carrier family 31 member 1 gene DOID:9000304 Manganese Poisoning ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22465424 9013716 Slc31a1 solute carrier family 31 member 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23792645 9013716 Slc31a1 solute carrier family 31 member 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25320179 9013716 Slc31a1 solute carrier family 31 member 1 gene DOID:9004994 Embryo Loss ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11391004 9013716 Slc31a1 solute carrier family 31 member 1 gene DOID:9005749 Necrosis ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19144690 9013716 Slc31a1 solute carrier family 31 member 1 gene DOID:9005835 Congenital Abnormalities ISO RGD:735683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11391004 9013716 Slc31a1 solute carrier family 31 member 1 gene DOID:9008349 NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT ISO RGD:735683 D RGD:7240710 20230621 OMIM 9013716 Slc31a1 solute carrier family 31 member 1 gene DOID:9008349 NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT ISO RGD:735683 D RGD:8554872 20230627 ClinVar ClinVar Annotator: match by term: Neurodegeneration and seizures due to copper transport defect PMID:25741868|PMID:35913762|PMID:36562171 9013733 Cldn17 claudin 17 gene DOID:630 genetic disease ISO RGD:1316669 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013738 Chst8 carbohydrate sulfotransferase 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1319067 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9013738 Chst8 carbohydrate sulfotransferase 8 gene DOID:0070522 peeling skin syndrome 3 ISO RGD:1319067 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome type A PMID:22289416|PMID:25741868|PMID:28204496|PMID:28492532 9013738 Chst8 carbohydrate sulfotransferase 8 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1319067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9013738 Chst8 carbohydrate sulfotransferase 8 gene DOID:630 genetic disease ISO RGD:1319067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013757 LOC102028408 chromosome unknown open reading frame, human C5orf63 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:5132119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9013757 LOC102028408 chromosome unknown open reading frame, human C5orf63 gene DOID:303 substance-related disorder ISO RGD:5132119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9013757 LOC102028408 chromosome unknown open reading frame, human C5orf63 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5132119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9013757 LOC102028408 chromosome unknown open reading frame, human C5orf63 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5132119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 9013757 LOC102028408 chromosome unknown open reading frame, human C5orf63 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:5132119 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9013773 Exosc6 exosome component 6 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320385 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9013773 Exosc6 exosome component 6 gene DOID:630 genetic disease ISO RGD:1320385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013810 Kdm4b lysine demethylase 4B gene DOID:0050902 medulloblastoma ISO RGD:1349901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 9013810 Kdm4b lysine demethylase 4B gene DOID:0050902 medulloblastoma ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (human) PMID:19270706|REF_RGD_ID:9587481 9013810 Kdm4b lysine demethylase 4B gene DOID:10283 prostate cancer ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate (human) PMID:22120715|REF_RGD_ID:9586733 9013810 Kdm4b lysine demethylase 4B gene DOID:10534 stomach cancer ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:increased expression:gastric mucosa (human) PMID:22133676|REF_RGD_ID:9587739 9013810 Kdm4b lysine demethylase 4B gene DOID:10534 stomach cancer severity ISO RGD:1349901 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24077348|REF_RGD_ID:9587753 9013810 Kdm4b lysine demethylase 4B gene DOID:10534 stomach cancer treatment ISO RGD:1349901 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:22133676|REF_RGD_ID:9587739 9013810 Kdm4b lysine demethylase 4B gene DOID:11054 urinary bladder cancer ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder (human) PMID:21930796|REF_RGD_ID:9587740 9013810 Kdm4b lysine demethylase 4B gene DOID:1324 lung cancer ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (human) PMID:21930796|REF_RGD_ID:9587740 9013810 Kdm4b lysine demethylase 4B gene DOID:1612 breast cancer severity ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:21445275|REF_RGD_ID:9587754 9013810 Kdm4b lysine demethylase 4B gene DOID:1612 breast cancer treatment ISO RGD:1349901 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21445275|REF_RGD_ID:9587754 9013810 Kdm4b lysine demethylase 4B gene DOID:1909 melanoma ISO RGD:1349901 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 9013810 Kdm4b lysine demethylase 4B gene DOID:5940 malignant peripheral nerve sheath tumor ISO RGD:1349901 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:21785329|REF_RGD_ID:9587769 9013810 Kdm4b lysine demethylase 4B gene DOID:630 genetic disease ISO RGD:1349901 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:33232677 9013810 Kdm4b lysine demethylase 4B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349901 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9013810 Kdm4b lysine demethylase 4B gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1349901 D RGD:9068941 20200609 RGD protein:increased expression:colon mucosa (human) PMID:22345654|REF_RGD_ID:9586735 9013810 Kdm4b lysine demethylase 4B gene DOID:9008506 Autosomal Dominant Intellectual Developmental Disorder 65 ISO RGD:1349901 D RGD:7240710 20210526 OMIM 9013810 Kdm4b lysine demethylase 4B gene DOID:9008506 Autosomal Dominant Intellectual Developmental Disorder 65 ISO RGD:1349901 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 65 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 65 PMID:25741868|PMID:33232677 9013810 Kdm4b lysine demethylase 4B gene DOID:9008582 Developmental Disease ISO RGD:1349901 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9013810 Kdm4b lysine demethylase 4B gene DOID:9256 colorectal cancer treatment ISO RGD:1349901 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:24473398|REF_RGD_ID:9587755 9013810 Kdm4b lysine demethylase 4B gene DOID:986 alopecia areata ISO RGD:1349901 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 9013841 Pcdh1 protocadherin 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318287 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9013841 Pcdh1 protocadherin 1 gene DOID:630 genetic disease ISO RGD:1318287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013841 Pcdh1 protocadherin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9013841 Pcdh1 protocadherin 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318287 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9013841 Pcdh1 protocadherin 1 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1318287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 9013854 Pkd1l2 polycystin-1-like protein 2 gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1343423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 9013854 Pkd1l2 polycystin-1-like protein 2 gene DOID:2843 long QT syndrome ISO RGD:1343423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 9013854 Pkd1l2 polycystin-1-like protein 2 gene DOID:630 genetic disease ISO RGD:1343423 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013854 Pkd1l2 polycystin-1-like protein 2 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1343423 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9013900 Znf574 zinc finger protein 574 gene DOID:0050888 syndromic intellectual disability ISO RGD:1322875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 9013900 Znf574 zinc finger protein 574 gene DOID:0080600 COVID-19 ISO RGD:1322875 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9013900 Znf574 zinc finger protein 574 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9013900 Znf574 zinc finger protein 574 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9013900 Znf574 zinc finger protein 574 gene DOID:2340 craniosynostosis ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 9013900 Znf574 zinc finger protein 574 gene DOID:5419 schizophrenia ISO RGD:1322875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9013900 Znf574 zinc finger protein 574 gene DOID:630 genetic disease ISO RGD:1322875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013900 Znf574 zinc finger protein 574 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9013900 Znf574 zinc finger protein 574 gene DOID:9269 maple syrup urine disease ISO RGD:1322875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9013909 Arl8a ADP ribosylation factor like GTPase 8A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1348114 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9013909 Arl8a ADP ribosylation factor like GTPase 8A gene DOID:1540 parathyroid carcinoma ISO RGD:1348114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9013909 Arl8a ADP ribosylation factor like GTPase 8A gene DOID:630 genetic disease ISO RGD:1348114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013909 Arl8a ADP ribosylation factor like GTPase 8A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9013909 Arl8a ADP ribosylation factor like GTPase 8A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1348114 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9013909 Arl8a ADP ribosylation factor like GTPase 8A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9013918 Itpka inositol-trisphosphate 3-kinase A gene DOID:2717 Bloom syndrome ISO RGD:732603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9013918 Itpka inositol-trisphosphate 3-kinase A gene DOID:630 genetic disease ISO RGD:732603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013918 Itpka inositol-trisphosphate 3-kinase A gene DOID:9256 colorectal cancer ISO RGD:732603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9013929 Ptprn2 protein tyrosine phosphatase receptor type N2 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1349626 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 9013929 Ptprn2 protein tyrosine phosphatase receptor type N2 gene DOID:10283 prostate cancer ISO RGD:1349626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9013929 Ptprn2 protein tyrosine phosphatase receptor type N2 gene DOID:11716 prediabetes syndrome ISO RGD:1349626 D RGD:9068941 20200609 RGD PMID:15004204|REF_RGD_ID:2311683 9013929 Ptprn2 protein tyrosine phosphatase receptor type N2 gene DOID:12849 autistic disorder ISO RGD:1349626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9013929 Ptprn2 protein tyrosine phosphatase receptor type N2 gene DOID:630 genetic disease ISO RGD:1349626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013929 Ptprn2 protein tyrosine phosphatase receptor type N2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1349626 D RGD:9068941 20200609 RGD PMID:18193190|REF_RGD_ID:2311682 9013929 Ptprn2 protein tyrosine phosphatase receptor type N2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:62197 D RGD:9068941 20200609 RGD PMID:12419281|REF_RGD_ID:2311684 9013929 Ptprn2 protein tyrosine phosphatase receptor type N2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:62197 D RGD:9068941 20220825 MouseDO OMIM:222100 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0050753 cerebellar ataxia ISO RGD:1346872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1346872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1346872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0080061 autosomal recessive spinocerebellar ataxia 2 ISO RGD:1346872 D RGD:7240710 20180130 OMIM 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0080061 autosomal recessive spinocerebellar ataxia 2 ISO RGD:1346872 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 PMID:10528257|PMID:25741868|PMID:25808372|PMID:26657514|PMID:28492532|PMID:32369273 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1346872 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1346872 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0081097 Rafiq syndrome ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:0110980 Joubert syndrome 1 ISO RGD:1346872 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:1572 normal pressure hydrocephalus ISO RGD:1346872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Normal pressure hydrocephalus PMID:10528257|PMID:25808372 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:3652 Leigh disease ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:630 genetic disease ISO RGD:1346872 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25808372|PMID:26657514|PMID:27148589|PMID:28492532 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:9005249 Immunodeficiency 103 ISO RGD:1346872 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 9013956 Pmpca peptidase, mitochondrial processing subunit alpha gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1346872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 9013977 Nfkbib NFKB inhibitor beta gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:732611 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 9013977 Nfkbib NFKB inhibitor beta gene DOID:630 genetic disease ISO RGD:732611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013977 Nfkbib NFKB inhibitor beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:732611 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 9013991 Olfml1 olfactomedin like 1 gene DOID:630 genetic disease ISO RGD:1323529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9013998 Rasd2 RASD family member 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1346276 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9013998 Rasd2 RASD family member 2 gene DOID:630 genetic disease ISO RGD:1346276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014005 Xg Xg glycoprotein (Xg blood group) gene DOID:12849 autistic disorder ISO RGD:1349793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9014005 Xg Xg glycoprotein (Xg blood group) gene DOID:630 genetic disease ISO RGD:1349793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014005 Xg Xg glycoprotein (Xg blood group) gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0060590 XFE progeroid syndrome ISO RGD:1315922 D RGD:9068941 20220825 MouseDO OMIM:610965 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0080914 cerebrooculofacioskeletal syndrome 4 ISO RGD:1315921 D RGD:7240710 20180130 OMIM 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0080914 cerebrooculofacioskeletal syndrome 4 ISO RGD:1315921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 PMID:17273966|PMID:23623389|PMID:25741868|PMID:28492532|PMID:33116287|PMID:33315086 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:0110845 xeroderma pigmentosum group D ISO RGD:1315921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group D 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer ameliorates ISO RGD:1315921 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs3212961) (human) PMID:27340861|REF_RGD_ID:155260339 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer ameliorates ISO RGD:1315921 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNP:exon:354C>T (human) PMID:26499900|REF_RGD_ID:11340202 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer no_association ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:intron:c.-7-277G>T (human) (rs2298881) PMID:24793015|REF_RGD_ID:13207425 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.*197G>T (rs3212986) (human) PMID:27173253|REF_RGD_ID:13207427 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snps:exon, intron:c.354T>C, c.-7-277G>T (human) (rs11615, rs2298881) PMID:24318989|REF_RGD_ID:13207309 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:10534 stomach cancer treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:23338051|REF_RGD_ID:11252163 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1074 kidney failure treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;DNA:SNPs: :8092C>A, 19007T>C (human) PMID:19786980|REF_RGD_ID:5688741 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:11476 osteoporosis ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:23281008|REF_RGD_ID:10045609 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:14227 azoospermia susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.8092C>A (human) PMID:18616887|REF_RGD_ID:13207429 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:14566 disease of cellular proliferation ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203453 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1574 alcohol use disorder ISO RGD:1306992 D RGD:9068941 20200609 RGD PMID:23095216|REF_RGD_ID:10045658 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1612 breast cancer susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.8092C>A (human) PMID:15958648|REF_RGD_ID:13207317 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.*197G>T (rs3212986) (human) PMID:27050953|REF_RGD_ID:13207426 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:1909 melanoma ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21722328 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2152 ovary epithelial cancer disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.8092C>A (human) PMID:18640939|REF_RGD_ID:13204969 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:224 transient cerebral ischemia treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD human gene in a rat model PMID:19440222|REF_RGD_ID:2313668 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2355 anemia treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Ovarian Neoplasms;DNA:SNP: :rs11615 (human) PMID:25881102|REF_RGD_ID:11252176 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2394 ovarian cancer disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:21216588|REF_RGD_ID:11252174 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:2962 Cockayne syndrome ISO RGD:1315921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cockayne syndrome PMID:17273966|PMID:23623389 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3070 high grade glioma susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3'utr:c.8092C>A (human) (rs3212986) PMID:25867436|REF_RGD_ID:13207318 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3347 osteosarcoma severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:p.N118N (human) PMID:23098477|REF_RGD_ID:13207418 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3748 esophagus squamous cell carcinoma treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:23263828|REF_RGD_ID:11252162 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3905 lung carcinoma ISO RGD:1306992 D RGD:9068941 20200609 RGD PMID:21530494|REF_RGD_ID:10045659 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21553054|PMID:23912706 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315921 D RGD:9068941 20210604 RGD PMID:23549037|REF_RGD_ID:127229950 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:silent mutation:cds:p.N118N (human) PMID:15140544|REF_RGD_ID:13207428 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1315921 D RGD:9068941 20200609 RGD protein:decreased expression:lung (human) PMID:16957145|REF_RGD_ID:13207308 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1315921 D RGD:9068941 20210604 RGD PMID:24443257|REF_RGD_ID:127229948 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1315921 D RGD:9068941 20221006 RGD DNA:SNPs:multiple (human) PMID:28924235|REF_RGD_ID:153323316 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:3910 lung adenocarcinoma ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21327329 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:4914 esophagus adenocarcinoma susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snps:cds, 3' utr:c.354C>T, c.8092C>A (human) PMID:18478337|REF_RGD_ID:13207314 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:4971 myelofibrosis ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:23571153|REF_RGD_ID:11252175 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:574 peripheral nervous system disease ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20979931 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:630 genetic disease ISO RGD:1315921 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:684 hepatocellular carcinoma ISO RGD:1315921 D RGD:9068941 20221020 RGD mRNA, protein:increased expression:liver (human) PMID:15922480|REF_RGD_ID:155598683 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:811 lipodystrophy ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:24011075|REF_RGD_ID:10401088 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:8398 osteoarthritis ISO RGD:1315922 D RGD:9068941 20200609 RGD mRNA:decreased expression:knee, articular cartilage of joint PMID:24964749|REF_RGD_ID:10045611 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:90 degenerative disc disease ISO RGD:1315922 D RGD:9068941 20200609 RGD associated with Progeria PMID:20973062|REF_RGD_ID:13207419 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000217 Stomach Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21133646 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20801905 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Melanoma PMID:26202595|REF_RGD_ID:11252177 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9001276 Failure to Thrive ISO RGD:1315921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532|PMID:33315086 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:22212909|REF_RGD_ID:13204968 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9002644 Premature Aging ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:22323595|REF_RGD_ID:10045610 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9002867 Myeloid Leukemia, Chronic-Phase treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNP: :rs11615 (human) PMID:22821389|REF_RGD_ID:11252165 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20934765 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9003613 Laryngeal Neoplasms susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:exon:c.354T>C (human) (rs11615) PMID:24582975|REF_RGD_ID:13207310 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004009 Reperfusion Injury ISO RGD:1306992 D RGD:9068941 20200609 RGD PMID:19440222|REF_RGD_ID:2313668 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004207 Testicular Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19956886 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004486 Drug-induced Neutropenia treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Colorectal Neoplasms;DNA:SNP PMID:23543295|REF_RGD_ID:11340199 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9004814 Chromosome Aberrations ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9005172 Lung Neoplasms ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30453383 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9005372 Inflammation ISO RGD:1315922 D RGD:9068941 20200609 RGD PMID:24011075|REF_RGD_ID:10401088 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:1306992 D RGD:9068941 20200609 RGD PMID:22228707|REF_RGD_ID:7296926 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9006796 Gastrointestinal Neoplasms disease_progression ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:20461087|REF_RGD_ID:11252166 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:SNP: :p.Q504K (human) PMID:25495407|REF_RGD_ID:11252168 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid, Acute PMID:17197435|REF_RGD_ID:11252178 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9007964 Arsenic Poisoning ISO RGD:1315921 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12569548 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9008443 Colorectal Neoplasms severity ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:cds:c.354C>T (human) PMID:16144923|REF_RGD_ID:13207315 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9008443 Colorectal Neoplasms susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.8092C>A (human) PMID:24531312|REF_RGD_ID:13207423 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:18604718|PMID:21942242|REF_RGD_ID:11252170|REF_RGD_ID:11252171 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.R399Q (human) PMID:23397959|REF_RGD_ID:11252193 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia no_association ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNP: :p.Q504K (human) PMID:20141440|REF_RGD_ID:11252173 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9119 acute myeloid leukemia treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD PMID:16507781|REF_RGD_ID:11252179 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1315921 D RGD:9068941 20221006 RGD DNA:SNP:exon: (rs3212986) (human) PMID:29151331|REF_RGD_ID:155260348 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9256 colorectal cancer ISO RGD:1315921 D RGD:9068941 20221006 RGD mRNA:increased expression:colorectum (human) PMID:16951227|REF_RGD_ID:155260343 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:1315921 D RGD:9068941 20220825 RGD DNA:SNP:3'utr: (rs3212986) (human) PMID:29516665|REF_RGD_ID:153344543 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9538 multiple myeloma treatment ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNP: :rs735482 (human) PMID:21435719|REF_RGD_ID:10450871 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNPs: :8092C>A, 19007G>A (human) PMID:16723154|REF_RGD_ID:11252160 9014010 Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1315921 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human) PMID:16435384|REF_RGD_ID:11340204 9014038 Usp49 ubiquitin specific peptidase 49 gene DOID:0050444 infantile Refsum disease ISO RGD:1601875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9014038 Usp49 ubiquitin specific peptidase 49 gene DOID:630 genetic disease ISO RGD:1601875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014038 Usp49 ubiquitin specific peptidase 49 gene DOID:905 Zellweger syndrome ISO RGD:1601875 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:0060186 chemical colitis treatment ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:23835442|REF_RGD_ID:14695050 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:0060189 ileitis treatment ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:23835442|REF_RGD_ID:14695050 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:0070313 thiamine deficiency disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:0080054 achondrogenesis type IA ISO RGD:1349357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1349357 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35654975 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:0080600 COVID-19 ISO RGD:1349357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) PMID:10194472|PMID:1082356|PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15711957|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16608528|PMID:17964515|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:19956452|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6093867|PMID:6306478|PMID:6602622|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:0080984 X-linked intellectual developmental disorder 109 ISO RGD:1349357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15978931|PMID:1608473|PMID:17964515|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25637381|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:30254761|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6306478|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:0081063 DICER1 syndrome ISO RGD:1349357 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:10320 asbestosis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12368052 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:10591 pre-eclampsia ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:1852102|REF_RGD_ID:1643155 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:10754 otitis media treatment IEP D RGD:11553864|PMID:2473673 20161014 RGD 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:10754 otitis media treatment IEP D RGD:11553918|PMID:2459981 20161017 RGD 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:10763 hypertension ISO RGD:1349357 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:10353322|REF_RGD_ID:1643147 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:1289 neurodegenerative disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:13372 alpha 1-antitrypsin deficiency ISO RGD:1349357 D RGD:7240710 20180130 OMIM 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:13372 alpha 1-antitrypsin deficiency ISO RGD:1349357 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AAT deficiency | ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency | ClinVar Annotator: match by term: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | ClinVar Annotator: match by term: PI M(HEERLEN) | ClinVar Annotator: match by term: PI NULL(PROCIDA) | ClinVar Annotator: match by term: PI Q0(BELLINGHAM) | ClinVar Annotator: match by term: PI Q0(GRANITE FALLS) | ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN) | ClinVar Annotator: match by term: PI Q0(NEWPORT) | ClinVar Annotator: match by term: PI S(IIYAMA) | ClinVar Annotator: match by term: PI W(BETHESDA) | ClinVar Annotator: match by term: PI Z(BRISTOL) | ClinVar Annotator: match by term: SERPINA1-related condition PMID:10194472|PMID:10234508|PMID:1082356|PMID:10878477|PMID:10954248|PMID:11214903|PMID:11334395|PMID:11474657|PMID:11524735|PMID:12034572|PMID:12220457|PMID:12935698|PMID:14522813|PMID:14551891|PMID:14767073|PMID:14985567|PMID:1504305|PMID:15115878|PMID:15454649|PMID:15486938|PMID:1552539|PMID:1569192|PMID:15711957|PMID:15744045|PMID:15949707|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16199547|PMID:16608528|PMID:1730596|PMID:17576681|PMID:17906067|PMID:17964515|PMID:18024524|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18353624|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:1905728|PMID:19083091|PMID:19280649|PMID:19398551|PMID:19437508|PMID:19444872|PMID:19654085|PMID:1967187|PMID:1969347|PMID:19738092|PMID:1975477|PMID:19956452|PMID:20301692|PMID:2035534|PMID:20453271|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21457231|PMID:21474916|PMID:21637596|PMID:21637600|PMID:21752289|PMID:2185272|PMID:21960536|PMID:22008137|PMID:22016686|PMID:22078084|PMID:22215832|PMID:2227940|PMID:2240842|PMID:22426792|PMID:2254451|PMID:22723858|PMID:22735536|PMID:22912357|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2309708|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:2390072|PMID:23907436|PMID:2394452|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:24713750|PMID:2481421|PMID:24969485|PMID:25098359|PMID:25181470|PMID:25391508|PMID:2539391|PMID:25425243|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:2606478|PMID:26141072|PMID:26243289|PMID:26281944|PMID:26304913|PMID:26310624|PMID:26321041|PMID:2642408|PMID:26604020|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27296815|PMID:27465791|PMID:27535533|PMID:2784123|PMID:2787118|PMID:27959697|PMID:2807278|PMID:28146470|PMID:2831367|PMID:28492532|PMID:2901226|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:3038256|PMID:3040726|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31307431|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:32482783|PMID:3257351|PMID:3262617|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3484755|PMID:3484756|PMID:3491072|PMID:3496639|PMID:3500183|PMID:3527273|PMID:3537008|PMID:36367950|PMID:3875547|PMID:412531|PMID:6093867|PMID:6306478|PMID:6602622|PMID:6604220|PMID:7045697|PMID:7227484|PMID:7706910|PMID:7977369|PMID:7980208|PMID:8182727|PMID:8340361|PMID:8358043|PMID:8364536|PMID:8364590|PMID:8499914|PMID:8520784|PMID:8912354|PMID:8970361|PMID:9041988|PMID:9070606|PMID:9195389|PMID:9459000|PMID:9536098|PMID:9569237|PMID:9635295 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:13372 alpha 1-antitrypsin deficiency treatment ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:29641323|REF_RGD_ID:14695049 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:13580 cholestasis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4117022 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:1485 cystic fibrosis ISO RGD:1349357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:10194472|PMID:1082356|PMID:15711957|PMID:15978931|PMID:15994391|PMID:16608528|PMID:18187064|PMID:18565211|PMID:18566672|PMID:1889260|PMID:19956452|PMID:20301692|PMID:20981092|PMID:22426792|PMID:22933512|PMID:22975760|PMID:23632999|PMID:23837941|PMID:24033266|PMID:24055113|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25741868|PMID:26141072|PMID:26672964|PMID:26831755|PMID:27153395|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28492532|PMID:29232161|PMID:29882371|PMID:301355|PMID:30585791|PMID:31447099|PMID:31980526|PMID:6093867|PMID:6602622|PMID:8970361 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:1525 nodular nonsuppurative panniculitis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3259592|PMID:6982619 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:1749 squamous cell carcinoma ISO RGD:1349357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:2323846|REF_RGD_ID:2324960 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:2030 anxiety disorder ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:2349 arteriosclerosis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12692006 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:2349 arteriosclerosis disease_progression ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA, protein:polymorphism, decreased expression: :p.A213V, 11478A>G, p.E264V, p.E342K (human) PMID:12692006|REF_RGD_ID:1643145 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:2841 asthma ISO RGD:3326 D RGD:9068941 20200609 RGD Fisher rats, shown to exhibit hyperactive airway responses at 14 days of age, had higher transcript and protein levels of Serpina1 than same age Brown Norway rats. PMID:20118217|REF_RGD_ID:5131869 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:2913 acute pancreatitis ISO RGD:1349357 D RGD:9068941 20200609 RGD associated with fatty liver disease; protein:decreased expression:serum: PMID:26634430|REF_RGD_ID:11552763 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:2913 acute pancreatitis ISO RGD:3326 D RGD:9068941 20200609 RGD associated with fatty liver disease; protein:decreased expression:serum: PMID:26634430|REF_RGD_ID:11552763 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:299 adenocarcinoma ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:3021 acute kidney failure ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1349357 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset PMID:10194472|PMID:1082356|PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15711957|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16608528|PMID:17964515|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:19956452|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6093867|PMID:6306478|PMID:6602622|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:3312 bipolar disorder ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:3393 coronary artery disease ISO RGD:1349357 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7832094|REF_RGD_ID:1643149 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349357 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas PMID:12488200|REF_RGD_ID:2317811 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:3770 pulmonary fibrosis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:72955 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:409 liver disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17006946|PMID:17659342|PMID:3485248|PMID:4117996|PMID:5095241|PMID:6600583 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:409 liver disease ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:19738092|REF_RGD_ID:4892128 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:409 liver disease susceptibility ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Glu342Lys(human) PMID:19961268|REF_RGD_ID:14695056 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:446 primary hyperaldosteronism ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:15475529|REF_RGD_ID:1643158 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:4769 pleuropulmonary blastoma ISO RGD:1349357 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:4989 pancreatitis ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:12770935|REF_RGD_ID:1641805 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:5082 liver cirrhosis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20511674|PMID:25579632|PMID:3485248 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:5082 liver cirrhosis ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:20522742|REF_RGD_ID:14695525 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17448989 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:526 human immunodeficiency virus infectious disease susceptibility ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Glu264Val(human) PMID:24122823|REF_RGD_ID:14695057 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:576 proteinuria ISO RGD:3326 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:11239198|REF_RGD_ID:1625796 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:630 genetic disease ISO RGD:1349357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10194472|PMID:10234508|PMID:1082356|PMID:12034572|PMID:14522813|PMID:14551891|PMID:14985567|PMID:15115878|PMID:15454649|PMID:1552539|PMID:15711957|PMID:15978931|PMID:15994391|PMID:1608473|PMID:16608528|PMID:17906067|PMID:17964515|PMID:18024524|PMID:18187064|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18565211|PMID:18566672|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:19956452|PMID:20301692|PMID:2035534|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637596|PMID:21637600|PMID:21960536|PMID:22008137|PMID:22078084|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:2394452|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:24713750|PMID:24969485|PMID:25098359|PMID:25181470|PMID:25391508|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26141072|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26321041|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27296815|PMID:27465791|PMID:27535533|PMID:2784123|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2901226|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29232161|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:301355|PMID:30254761|PMID:3038256|PMID:30585791|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3491072|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6093867|PMID:6306478|PMID:6602622|PMID:7045697|PMID:7227484|PMID:8912354|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:6432 pulmonary hypertension ISO RGD:1349357 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17444595|REF_RGD_ID:1643144 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:6432 pulmonary hypertension ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:1836309|REF_RGD_ID:1643154 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:684 hepatocellular carcinoma ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284|PMID:6258829 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:8398 osteoarthritis ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:20434574|REF_RGD_ID:2324964 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:8398 osteoarthritis ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:20434574|REF_RGD_ID:2324964 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:850 lung disease ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:865 vasculitis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1684994 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9000217 Stomach Neoplasms ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.321C>A(human) PMID:28947017|REF_RGD_ID:14695046 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:3326 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16092147|REF_RGD_ID:1624236 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:3326 D RGD:9068941 20200609 RGD PMID:10569800|REF_RGD_ID:1626391 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9002884 Emphysema ISO RGD:1349357 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PI I | ClinVar Annotator: match by term: PI M(MINERAL SPRINGS) | ClinVar Annotator: match by term: PI M(PROCIDA) | ClinVar Annotator: match by term: PI S PMID:10194472|PMID:1082356|PMID:14767073|PMID:14985567|PMID:1504305|PMID:15711957|PMID:15978931|PMID:15994391|PMID:16608528|PMID:17964515|PMID:18024524|PMID:18187064|PMID:18515255|PMID:18565211|PMID:18566672|PMID:1889260|PMID:1967187|PMID:19956452|PMID:20301692|PMID:20981092|PMID:21752289|PMID:22426792|PMID:22912357|PMID:22933512|PMID:22975760|PMID:23632999|PMID:23837941|PMID:24033266|PMID:24055113|PMID:24713750|PMID:25391508|PMID:25454901|PMID:25637381|PMID:2567291|PMID:25741868|PMID:2606478|PMID:26141072|PMID:26647313|PMID:26672964|PMID:26831755|PMID:2696185|PMID:26987331|PMID:27153395|PMID:27296815|PMID:27465791|PMID:27535533|PMID:27959697|PMID:28492532|PMID:29232161|PMID:29882371|PMID:301355|PMID:30585791|PMID:31447099|PMID:31980526|PMID:32482783|PMID:3262617|PMID:3496639|PMID:6093867|PMID:6602622|PMID:8970361|PMID:9635295 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349357 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15978931|PMID:1608473|PMID:17964515|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25637381|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:30254761|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:33144682|PMID:33726816|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6306478|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349357 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12034572|PMID:14522813|PMID:15115878|PMID:15454649|PMID:15978931|PMID:1608473|PMID:17964515|PMID:18294358|PMID:18340647|PMID:18414213|PMID:18515255|PMID:18682522|PMID:1889260|PMID:19083091|PMID:19398551|PMID:19444872|PMID:19738092|PMID:20301692|PMID:20981092|PMID:21067581|PMID:21228398|PMID:21637600|PMID:21960536|PMID:22426792|PMID:22735536|PMID:22912729|PMID:22933512|PMID:22971141|PMID:22975760|PMID:2339709|PMID:23484243|PMID:23632999|PMID:23837941|PMID:23858502|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24328305|PMID:24428606|PMID:24518491|PMID:24592811|PMID:25181470|PMID:25637381|PMID:25738741|PMID:25741868|PMID:2575668|PMID:25966443|PMID:26243289|PMID:26304913|PMID:26310624|PMID:26647313|PMID:26672964|PMID:26771213|PMID:26831755|PMID:2696185|PMID:26987331|PMID:2700304|PMID:27153395|PMID:27246852|PMID:27535533|PMID:27959697|PMID:28146470|PMID:28492532|PMID:2904702|PMID:29083408|PMID:29153744|PMID:29431110|PMID:29618937|PMID:29644095|PMID:29882371|PMID:2989709|PMID:30068317|PMID:30068662|PMID:30254761|PMID:30739910|PMID:31028937|PMID:31216405|PMID:31447099|PMID:31564432|PMID:31980526|PMID:32087139|PMID:3264419|PMID:32699024|PMID:33144682|PMID:33726816|PMID:34408828|PMID:34408829|PMID:3484754|PMID:3500183|PMID:3537008|PMID:3875547|PMID:6306478|PMID:7045697|PMID:7227484|PMID:8970361|PMID:9041988|PMID:9195389|PMID:9569237 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9005172 Lung Neoplasms ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17902193 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:28235038|REF_RGD_ID:14695051 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9007102 Myocardial Ischemia ISO RGD:1349357 D RGD:9068941 20200609 RGD associated with Aortic Aneurysm, Abdominal;DNA:polymorphism: :p.E342K (human) PMID:10063411|REF_RGD_ID:1643148 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:3326 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:11140575|REF_RGD_ID:1643168 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:1349357 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E264V(human) PMID:20170533|REF_RGD_ID:14695048 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9007692 Insulin Resistance ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:16752182|REF_RGD_ID:1601202 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9007730 Burns ISO RGD:3326 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:12509927|REF_RGD_ID:1643164 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9008217 Hemorrhage ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:412531 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9008821 Otitis Media with Effusion IEP D RGD:11560528|PMID:2454602 20161109 RGD 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9256 colorectal cancer ISO RGD:1349357 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:24886427|REF_RGD_ID:14695524 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9563 bronchiectasis ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7785020 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9675 pulmonary emphysema ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3485249 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9675 pulmonary emphysema ISO RGD:1349357 D RGD:9068941 20200609 RGD PMID:19941265|PMID:21030517|REF_RGD_ID:4892125|REF_RGD_ID:4892126 9014073 LOC102021597 alpha-1-antiproteinase S-like gene DOID:9993 hypoglycemia ISO RGD:1349357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659342 9014082 Spindoc spindlin interactor and repressor of chromatin binding gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1604233 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9014082 Spindoc spindlin interactor and repressor of chromatin binding gene DOID:1059 intellectual disability ISO RGD:1604233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9014082 Spindoc spindlin interactor and repressor of chromatin binding gene DOID:3070 high grade glioma ISO RGD:1604233 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9014093 Rps6ka2 ribosomal protein S6 kinase A2 gene DOID:0060041 autism spectrum disorder ISO RGD:1348784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9014093 Rps6ka2 ribosomal protein S6 kinase A2 gene DOID:3312 bipolar disorder ISO RGD:1348784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 9014093 Rps6ka2 ribosomal protein S6 kinase A2 gene DOID:630 genetic disease ISO RGD:1348784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014131 Ralyl RALY RNA binding protein like gene DOID:630 genetic disease ISO RGD:1606457 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014131 Ralyl RALY RNA binding protein like gene DOID:9008939 Breast Neoplasms ISO RGD:1606457 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 9014150 Tcp1 t-complex 1 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:732136 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 9014150 Tcp1 t-complex 1 gene DOID:630 genetic disease ISO RGD:732136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014150 Tcp1 t-complex 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566973 9014160 Pde1c phosphodiesterase 1C gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:68463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:29860631 9014160 Pde1c phosphodiesterase 1C gene DOID:0112165 autosomal dominant nonsyndromic deafness 74 ISO RGD:68463 D RGD:7240710 20190315 OMIM 9014160 Pde1c phosphodiesterase 1C gene DOID:0112165 autosomal dominant nonsyndromic deafness 74 ISO RGD:68463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 74 PMID:25741868|PMID:28492532|PMID:29860631 9014160 Pde1c phosphodiesterase 1C gene DOID:10283 prostate cancer ISO RGD:68463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9014160 Pde1c phosphodiesterase 1C gene DOID:303 substance-related disorder ISO RGD:68463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9014160 Pde1c phosphodiesterase 1C gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:68463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9014160 Pde1c phosphodiesterase 1C gene DOID:630 genetic disease ISO RGD:68463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014183 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:0050569 Seckel syndrome ISO RGD:1347674 D RGD:9068941 20200609 RGD DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human) PMID:26436113|REF_RGD_ID:13450906 9014183 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:0070286 primary autosomal recessive microcephaly 3 ISO RGD:1347674 D RGD:7240710 20180130 OMIM 9014183 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:0070286 primary autosomal recessive microcephaly 3 ISO RGD:1347674 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CDK5RAP2-related condition | ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive PMID:10677332|PMID:15793586|PMID:17764569|PMID:18414213|PMID:20301772|PMID:20460369|PMID:22887808|PMID:23726037|PMID:23995685|PMID:25326637|PMID:25741868|PMID:26436113|PMID:27391121|PMID:27761245|PMID:28004182|PMID:28492532|PMID:30392784|PMID:31316545 9014183 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1347674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9014183 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:10907 microcephaly ISO RGD:1347674 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:18414213|PMID:20301772|PMID:25741868|PMID:28492532|PMID:32581362 9014183 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:12270 coloboma ISO RGD:1347674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:28492532 9014183 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:630 genetic disease ISO RGD:1347674 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15793586|PMID:17576681|PMID:18414213|PMID:25741868|PMID:27761245|PMID:28492532|PMID:30392784|PMID:9536098 9014183 Cdk5rap2 CDK5 regulatory subunit associated protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1347674 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9014237 Mindy3 MINDY lysine 48 deubiquitinase 3 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9014237 Mindy3 MINDY lysine 48 deubiquitinase 3 gene DOID:630 genetic disease ISO RGD:1320032 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014237 Mindy3 MINDY lysine 48 deubiquitinase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9014263 Adm adrenomedullin gene DOID:0080600 COVID-19 ISO RGD:730917 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9014263 Adm adrenomedullin gene DOID:10534 stomach cancer treatment ISO RGD:730917 D RGD:9068941 20220901 RGD human cells in mouse model PMID:16052530|REF_RGD_ID:153344579 9014263 Adm adrenomedullin gene DOID:10762 portal hypertension ISO RGD:730918 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15086360|REF_RGD_ID:1625304 9014263 Adm adrenomedullin gene DOID:10763 hypertension ISO RGD:2047 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium, aorta PMID:16450076|REF_RGD_ID:1625300 9014263 Adm adrenomedullin gene DOID:10763 hypertension ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16625237|REF_RGD_ID:1625298 9014263 Adm adrenomedullin gene DOID:10808 gastric ulcer ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9845272 9014263 Adm adrenomedullin gene DOID:10824 malignant hypertension ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15284680|REF_RGD_ID:1625303 9014263 Adm adrenomedullin gene DOID:11612 polycystic ovary syndrome ISO RGD:730917 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33491863 9014263 Adm adrenomedullin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2047 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:cardiomyocyte PMID:17355819|REF_RGD_ID:1625294 9014263 Adm adrenomedullin gene DOID:12849 autistic disorder ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12579522 9014263 Adm adrenomedullin gene DOID:13603 obstructive jaundice ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20132852|REF_RGD_ID:7364952 9014263 Adm adrenomedullin gene DOID:14115 toxic shock syndrome ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:17318497|PMID:17766482|REF_RGD_ID:1625310|REF_RGD_ID:1642599 9014263 Adm adrenomedullin gene DOID:1591 renovascular hypertension ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15284680|REF_RGD_ID:1625303 9014263 Adm adrenomedullin gene DOID:1612 breast cancer ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:16841081|REF_RGD_ID:2325318 9014263 Adm adrenomedullin gene DOID:1793 pancreatic cancer ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:16841081|REF_RGD_ID:2325318 9014263 Adm adrenomedullin gene DOID:1793 pancreatic cancer disease_progression ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:17363587|REF_RGD_ID:2325317 9014263 Adm adrenomedullin gene DOID:2018 hyperinsulinism ISO RGD:730917 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased expression:plasma PMID:15789277|REF_RGD_ID:1625301 9014263 Adm adrenomedullin gene DOID:2921 glomerulonephritis ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:20431304|REF_RGD_ID:2325320 9014263 Adm adrenomedullin gene DOID:2921 glomerulonephritis ISO RGD:2047 D RGD:9068941 20200609 RGD associated with Anti-Glomerular Basement Membrane Disease PMID:16735801|REF_RGD_ID:1625317 9014263 Adm adrenomedullin gene DOID:2921 glomerulonephritis ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15063164|PMID:15680492 9014263 Adm adrenomedullin gene DOID:341 peripheral vascular disease ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15350700|REF_RGD_ID:1625302 9014263 Adm adrenomedullin gene DOID:3454 brain infarction treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:21695352|REF_RGD_ID:5508764 9014263 Adm adrenomedullin gene DOID:3892 insulinoma ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, plasma PMID:11331218|REF_RGD_ID:2325319 9014263 Adm adrenomedullin gene DOID:4195 hyperglycemia ISO RGD:730917 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33491863 9014263 Adm adrenomedullin gene DOID:5199 ureteral obstruction ISO RGD:2047 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:18945953|REF_RGD_ID:2325637 9014263 Adm adrenomedullin gene DOID:6000 congestive heart failure ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:12623952|REF_RGD_ID:704370 9014263 Adm adrenomedullin gene DOID:630 genetic disease ISO RGD:730917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014263 Adm adrenomedullin gene DOID:6432 pulmonary hypertension ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:14718403|REF_RGD_ID:1625305 9014263 Adm adrenomedullin gene DOID:7693 abdominal aortic aneurysm ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:mast cell, abdominal aorta PMID:16524566|REF_RGD_ID:1625299 9014263 Adm adrenomedullin gene DOID:8947 diabetic retinopathy ISO RGD:730917 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:19216096|REF_RGD_ID:2313312 9014263 Adm adrenomedullin gene DOID:9000064 Cardiac Arrhythmias ISO RGD:2047 D RGD:9068941 20200609 RGD associated with Myocardial Ischemia PMID:16715121|REF_RGD_ID:1625318 9014263 Adm adrenomedullin gene DOID:9000641 Pain ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043245 9014263 Adm adrenomedullin gene DOID:9001542 Albuminuria ISO RGD:730917 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19424162|REF_RGD_ID:2313311 9014263 Adm adrenomedullin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16713642|REF_RGD_ID:1625319 9014263 Adm adrenomedullin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15370692|PMID:16610064 9014263 Adm adrenomedullin gene DOID:9001708 Hemorrhagic Shock ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:15973109|REF_RGD_ID:7364990 9014263 Adm adrenomedullin gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:18403050|REF_RGD_ID:7364987 9014263 Adm adrenomedullin gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2047 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver,plasma: PMID:19212187|REF_RGD_ID:7364958 9014263 Adm adrenomedullin gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:19212187|REF_RGD_ID:7364958 9014263 Adm adrenomedullin gene DOID:9002211 Hyperalgesia ISO RGD:2047 D RGD:9068941 20200609 RGD PMID:17043245|REF_RGD_ID:1625316 9014263 Adm adrenomedullin gene DOID:9002211 Hyperalgesia ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17043245 9014263 Adm adrenomedullin gene DOID:9002802 Acidoses ISO RGD:2047 D RGD:9068941 20200609 RGD associated with Hemorrhage PMID:17255858|REF_RGD_ID:1625312 9014263 Adm adrenomedullin gene DOID:9004009 Reperfusion Injury ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:17263982|REF_RGD_ID:7364988 9014263 Adm adrenomedullin gene DOID:9004484 Sepsis ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:20132852|REF_RGD_ID:7364952 9014263 Adm adrenomedullin gene DOID:9004484 Sepsis ISO RGD:730917 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14766677 9014263 Adm adrenomedullin gene DOID:9004484 Sepsis treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:19009024|REF_RGD_ID:7364986 9014263 Adm adrenomedullin gene DOID:9004484 Sepsis treatment ISO RGD:730917 D RGD:9068941 20200609 RGD associated with Jaundice,Obstructive; PMID:20132852|REF_RGD_ID:7364952 9014263 Adm adrenomedullin gene DOID:9004663 Intestinal Ischemia ISO RGD:2047 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:17263982|REF_RGD_ID:7364988 9014263 Adm adrenomedullin gene DOID:9005587 Starvation ISO RGD:2047 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:stomach PMID:17335899|REF_RGD_ID:1625307 9014263 Adm adrenomedullin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:pigmented epithelial cell, retina PMID:16955796|REF_RGD_ID:1625296 9014263 Adm adrenomedullin gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20538296|REF_RGD_ID:7364948 9014263 Adm adrenomedullin gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:730917 D RGD:9068941 20200609 RGD PMID:20538296|REF_RGD_ID:7364948 9014263 Adm adrenomedullin gene DOID:9007096 Stroke ISO RGD:2047 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:21695352|REF_RGD_ID:5508764 9014263 Adm adrenomedullin gene DOID:9007102 Myocardial Ischemia ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15350700|REF_RGD_ID:1625302 9014263 Adm adrenomedullin gene DOID:9007692 Insulin Resistance ISO RGD:730917 D RGD:9068941 20210709 CTD CTD Direct Evidence: therapeutic PMID:33491863 9014263 Adm adrenomedullin gene DOID:9256 colorectal cancer ISO RGD:730917 D RGD:9068941 20220609 RGD mRNA,protein:increased expression:colorectum (human) PMID:21839130|REF_RGD_ID:152985531 9014263 Adm adrenomedullin gene DOID:9352 type 2 diabetes mellitus ISO RGD:730917 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17557032|REF_RGD_ID:2313313 9014263 Adm adrenomedullin gene DOID:9970 obesity ISO RGD:730917 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adipose tissue PMID:16793965|REF_RGD_ID:1625297 9014275 Cnpy2 canopy FGF signaling regulator 2 gene DOID:630 genetic disease ISO RGD:1350709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014275 Cnpy2 canopy FGF signaling regulator 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350709 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9014275 Cnpy2 canopy FGF signaling regulator 2 gene DOID:9000918 Disease Progression ISO RGD:1350709 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9014275 Cnpy2 canopy FGF signaling regulator 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1350709 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1345497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1345497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:14557 primary pulmonary hypertension ISO RGD:1345497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:1824 status epilepticus ISO RGD:61997 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus, astrocyte PMID:18671295|REF_RGD_ID:2316522 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:5453 pulmonary venoocclusive disease ISO RGD:61997 D RGD:9068941 20200903 RGD PMID:32209028|REF_RGD_ID:38549370 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:630 genetic disease ISO RGD:1345497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:6432 pulmonary hypertension ISO RGD:1345497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30365877 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:6432 pulmonary hypertension severity ISO XCO:0000642 D RGD:9068941 20220204 RGD PMID:31347976|REF_RGD_ID:151347452 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1345497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9006572 Primary Pulmonary Hypertension, 4 ISO RGD:1345497 D RGD:7240710 20180130 OMIM 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9006572 Primary Pulmonary Hypertension, 4 ISO RGD:1345497 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 4 PMID:17576681|PMID:23883380|PMID:24033266|PMID:25741868|PMID:26387786|PMID:28492532|PMID:28889099|PMID:29650961|PMID:29743074|PMID:30578397|PMID:9536098 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9007096 Stroke ISO RGD:1345497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9007402 Gliosis ISO RGD:1345497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18671295 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9008681 Deafness ISO RGD:61997 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, neuron PMID:17884299|REF_RGD_ID:2316516 9014308 Kcnk3 potassium two pore domain channel subfamily K member 3 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1345497 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:23883380|PMID:32581362 9014314 Ankfn1 ankyrin repeat and fibronectin type III domain containing 1 gene DOID:630 genetic disease ISO RGD:1604222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014314 Ankfn1 ankyrin repeat and fibronectin type III domain containing 1 gene DOID:9004791 Stapes Ankylosis with Broad Thumbs and Toes ISO RGD:1604222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes 9014347 Fam168a family with sequence similarity 168 member A gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1604050 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 9014347 Fam168a family with sequence similarity 168 member A gene DOID:1059 intellectual disability ISO RGD:1604050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9014347 Fam168a family with sequence similarity 168 member A gene DOID:630 genetic disease ISO RGD:1604050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014347 Fam168a family with sequence similarity 168 member A gene DOID:9000217 Stomach Neoplasms ISO RGD:1604050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9014347 Fam168a family with sequence similarity 168 member A gene DOID:9000918 Disease Progression ISO RGD:1604050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9014372 Lin28a lin-28 homolog A gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1316876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 9014372 Lin28a lin-28 homolog A gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1316876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 9014372 Lin28a lin-28 homolog A gene DOID:14566 disease of cellular proliferation ISO RGD:1316876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 9014372 Lin28a lin-28 homolog A gene DOID:630 genetic disease ISO RGD:1316876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014372 Lin28a lin-28 homolog A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26910839 9014372 Lin28a lin-28 homolog A gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1316876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19483683 9014380 Stk31 serine/threonine kinase 31 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9014380 Stk31 serine/threonine kinase 31 gene DOID:630 genetic disease ISO RGD:1606534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014426 Slc27a5 solute carrier family 27 member 5 gene DOID:2661 myoepithelioma ISO RGD:1349953 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9014426 Slc27a5 solute carrier family 27 member 5 gene DOID:630 genetic disease ISO RGD:1349953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9014452 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:732077 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 9014452 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17686188|PMID:28492532 9014452 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:1059 intellectual disability ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9014452 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 9014452 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:732077 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 9014452 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:630 genetic disease ISO RGD:732077 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28689658 9014452 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:83 cataract ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:32500975 9014452 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:9003595 DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY ISO RGD:732077 D RGD:7240710 20210818 OMIM 9014452 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:9003595 DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY ISO RGD:732077 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy PMID:32500975 9014452 Psmc3 proteasome 26S subunit, ATPase 3 gene DOID:9008086 Developmental Disabilities ISO RGD:732077 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay 9014468 LOC102023462 chromosome unknown open reading frame, human C11orf16 gene DOID:630 genetic disease ISO RGD:1347638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014511 Ruvbl1 RuvB like AAA ATPase 1 gene DOID:0050770 polycystic liver disease ISO RGD:68537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 9014511 Ruvbl1 RuvB like AAA ATPase 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:68537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections PMID:21670465|PMID:22147895|PMID:23223431|PMID:28492532 9014511 Ruvbl1 RuvB like AAA ATPase 1 gene DOID:630 genetic disease ISO RGD:68537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9014511 Ruvbl1 RuvB like AAA ATPase 1 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:68537 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 9014511 Ruvbl1 RuvB like AAA ATPase 1 gene DOID:9004877 Autosomal Dominant Tubulointerstitial Kidney Disease 5 ISO RGD:68537 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 PMID:25741868|PMID:28492532 9014511 Ruvbl1 RuvB like AAA ATPase 1 gene DOID:9007541 Common Variable Immunodeficiency 15 ISO RGD:68537 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 PMID:28782633 9014511 Ruvbl1 RuvB like AAA ATPase 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:68537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:21670465|PMID:22147895|PMID:23223431|PMID:25741868|PMID:26710799|PMID:28492532 9014511 Ruvbl1 RuvB like AAA ATPase 1 gene DOID:9270 alkaptonuria ISO RGD:68537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9014539 Calcoco2 calcium binding and coiled-coil domain 2 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1601886 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 9014539 Calcoco2 calcium binding and coiled-coil domain 2 gene DOID:630 genetic disease ISO RGD:1601886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014539 Calcoco2 calcium binding and coiled-coil domain 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1601886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 9014563 Fscn1 fascin actin-bundling protein 1 gene DOID:1793 pancreatic cancer severity ISO RGD:1344433 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:17696949|REF_RGD_ID:2317785 9014563 Fscn1 fascin actin-bundling protein 1 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1344433 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12109856|REF_RGD_ID:2317790 9014563 Fscn1 fascin actin-bundling protein 1 gene DOID:4608 common bile duct neoplasm ISO RGD:1344433 D RGD:9068941 20200609 RGD mRNA, protein:increased expression: : PMID:15136764|REF_RGD_ID:2317789 9014563 Fscn1 fascin actin-bundling protein 1 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1344433 D RGD:9068941 20200609 RGD protein:increased expression:bile ducts PMID:19721413|REF_RGD_ID:2317780 9014563 Fscn1 fascin actin-bundling protein 1 gene DOID:630 genetic disease ISO RGD:1344433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014563 Fscn1 fascin actin-bundling protein 1 gene DOID:9000011 Gallbladder Neoplasms severity ISO RGD:1344433 D RGD:9068941 20200609 RGD PMID:19259612|REF_RGD_ID:2317784 9014563 Fscn1 fascin actin-bundling protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344433 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:15626919|REF_RGD_ID:2317788 9014563 Fscn1 fascin actin-bundling protein 1 gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:1344433 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:17419223|REF_RGD_ID:2317786 9014572 Rag2 recombination activating 2 gene DOID:0060010 Omenn syndrome ISO RGD:1313706 D RGD:7240710 20180130 OMIM 9014572 Rag2 recombination activating 2 gene DOID:0060010 Omenn syndrome ISO RGD:1313706 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia PMID:10777560|PMID:11138625|PMID:11313270|PMID:15025726|PMID:16960852|PMID:17572155|PMID:18025461|PMID:18682256|PMID:19333736|PMID:20234091|PMID:23243423|PMID:25741868|PMID:28492532|PMID:29772310|PMID:30307608|PMID:30778343 9014572 Rag2 recombination activating 2 gene DOID:0060012 recombinase activating gene 2 deficiency ISO RGD:1313706 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:12200379|PMID:15025726|PMID:16960852|PMID:17476358|PMID:17572155|PMID:18025461|PMID:18033247|PMID:18463379|PMID:18682256|PMID:19333736|PMID:19414857|PMID:20234091|PMID:20603253|PMID:21131235|PMID:21624848|PMID:21664875|PMID:23243423|PMID:24144642|PMID:24331380|PMID:24481607|PMID:24996264|PMID:25109802|PMID:25333069|PMID:25707801|PMID:25741868|PMID:25869295|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26915675|PMID:26996199|PMID:28492532|PMID:28600779|PMID:28747913|PMID:29772310|PMID:30305145|PMID:30307608|PMID:30778343|PMID:31058115|PMID:31334206|PMID:31388879|PMID:32581362|PMID:32655540|PMID:8810255 9014572 Rag2 recombination activating 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1313706 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 9014572 Rag2 recombination activating 2 gene DOID:0080915 histiocytic sarcoma ISO RGD:1313706 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:12200379|PMID:15025726|PMID:16960852|PMID:17476358|PMID:17572155|PMID:18025461|PMID:18033247|PMID:18682256|PMID:19178939|PMID:19333736|PMID:19414857|PMID:19470080|PMID:19912631|PMID:20234091|PMID:20603253|PMID:21131235|PMID:21502542|PMID:21624848|PMID:21625022|PMID:22295088|PMID:22841008|PMID:23243423|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24481607|PMID:25109802|PMID:25333069|PMID:25707801|PMID:25741868|PMID:25869295|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26692406|PMID:26915675|PMID:28492532|PMID:28600779|PMID:28747913|PMID:28769923|PMID:29772310|PMID:30305145|PMID:30307608|PMID:30778343|PMID:8810255|PMID:9630231 9014572 Rag2 recombination activating 2 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1313706 D RGD:7240710 20180130 OMIM 9014572 Rag2 recombination activating 2 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1313706 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive PMID:10777560|PMID:10891502|PMID:11133745|PMID:11313270|PMID:15025726|PMID:16960852|PMID:17572155|PMID:19178939|PMID:19414857|PMID:20234091|PMID:21502542|PMID:21624848|PMID:22295088|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:25741868|PMID:25869295|PMID:26457731|PMID:26692406|PMID:27730413|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32445296|PMID:32655540|PMID:8810255 9014572 Rag2 recombination activating 2 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1313706 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:15025726|PMID:16960852|PMID:17476358|PMID:17572155|PMID:18025461|PMID:18682256|PMID:19178939|PMID:19333736|PMID:19414857|PMID:20234091|PMID:21502542|PMID:21624848|PMID:22295088|PMID:23243423|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:25741868|PMID:25869295|PMID:26457731|PMID:26692406|PMID:27730413|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31388879|PMID:32445296|PMID:32655540|PMID:32888943|PMID:8810255 9014572 Rag2 recombination activating 2 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1313706 D RGD:7240710 20180130 OMIM 9014572 Rag2 recombination activating 2 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1313706 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:10777560|PMID:10891502|PMID:11133745|PMID:11138625|PMID:11313270|PMID:12200379|PMID:15025726|PMID:16111638|PMID:16960852|PMID:17476358|PMID:17572155|PMID:18025461|PMID:18033247|PMID:18463379|PMID:18682256|PMID:19178939|PMID:19333736|PMID:19414857|PMID:19763152|PMID:20234091|PMID:20307669|PMID:20603253|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21624848|PMID:21625022|PMID:21664875|PMID:22295088|PMID:22406018|PMID:22841008|PMID:23243423|PMID:23994475|PMID:24139496|PMID:24144642|PMID:24174341|PMID:24290284|PMID:24331380|PMID:24481607|PMID:24996264|PMID:25109802|PMID:25333069|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25842288|PMID:25869295|PMID:2618670|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26692406|PMID:26915675|PMID:26996199|PMID:27730413|PMID:28492532|PMID:28600779|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29095814|PMID:29658452|PMID:29772310|PMID:30305145|PMID:30307608|PMID:30778343|PMID:31031743|PMID:31058115|PMID:31334206|PMID:31388879|PMID:31838659|PMID:32445296|PMID:32531373|PMID:32581362|PMID:32655540|PMID:32888943|PMID:33505738|PMID:33628209|PMID:33954879|PMID:8810255|PMID:9630231 9014572 Rag2 recombination activating 2 gene DOID:1059 intellectual disability ISO RGD:1313706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9014572 Rag2 recombination activating 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1313706 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:18463379|PMID:21664875|PMID:24331380|PMID:24996264|PMID:25741868|PMID:26457731|PMID:26996199|PMID:28492532|PMID:29772310|PMID:31334206|PMID:31388879|PMID:32581362|PMID:32655540 9014572 Rag2 recombination activating 2 gene DOID:1909 melanoma ISO RGD:1313706 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 9014572 Rag2 recombination activating 2 gene DOID:627 severe combined immunodeficiency ISO RGD:1313706 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:15025726|PMID:18463379|PMID:20603253|PMID:21131235|PMID:21624848|PMID:21664875|PMID:24174341|PMID:24331380|PMID:24481607|PMID:24996264|PMID:25109802|PMID:25333069|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26515615|PMID:26996199|PMID:28492532|PMID:28747913|PMID:28769923|PMID:29051008|PMID:29772310|PMID:30307608|PMID:30778343|PMID:31334206|PMID:31388879|PMID:32581362|PMID:32655540|PMID:32888943 9014572 Rag2 recombination activating 2 gene DOID:630 genetic disease ISO RGD:1313706 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:33628209 9014572 Rag2 recombination activating 2 gene DOID:9000156 Metaplasia ISO RGD:1313706 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27315767 9014572 Rag2 recombination activating 2 gene DOID:9000795 Immunodeficiency 104 ISO RGD:1313706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:20603253|PMID:21131235|PMID:24481607|PMID:25741868|PMID:26476733|PMID:26515615|PMID:28492532|PMID:29772310 9014572 Rag2 recombination activating 2 gene DOID:9001371 Eosinophilia ISO RGD:1313706 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27315767 9014572 Rag2 recombination activating 2 gene DOID:9002457 Experimental Arthritis ISO RGD:1313706 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20974942 9014587 Cpne9 copine family member 9 gene DOID:2843 long QT syndrome ISO RGD:1604226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 9014587 Cpne9 copine family member 9 gene DOID:630 genetic disease ISO RGD:1604226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014587 Cpne9 copine family member 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9014587 Cpne9 copine family member 9 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1604226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 9014614 LOC102006333 olfactory receptor 52D1 gene DOID:630 genetic disease ISO RGD:1344092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014617 Pdzk1 PDZ domain containing 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:732823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9014617 Pdzk1 PDZ domain containing 1 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:732823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 9014617 Pdzk1 PDZ domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:732823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9014617 Pdzk1 PDZ domain containing 1 gene DOID:5419 schizophrenia ISO RGD:732823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9014617 Pdzk1 PDZ domain containing 1 gene DOID:630 genetic disease ISO RGD:732823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014617 Pdzk1 PDZ domain containing 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:732823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9014617 Pdzk1 PDZ domain containing 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:732823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9014617 Pdzk1 PDZ domain containing 1 gene DOID:9008939 Breast Neoplasms ISO RGD:732823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25751625 9014617 Pdzk1 PDZ domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9014637 Efcc1 EF-hand and coiled-coil domain containing 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:1602687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 9014637 Efcc1 EF-hand and coiled-coil domain containing 1 gene DOID:630 genetic disease ISO RGD:1602687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014637 Efcc1 EF-hand and coiled-coil domain containing 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 9014637 Efcc1 EF-hand and coiled-coil domain containing 1 gene DOID:9270 alkaptonuria ISO RGD:1602687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9014659 Stx8 syntaxin 8 gene DOID:10283 prostate cancer ISO RGD:731411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9014659 Stx8 syntaxin 8 gene DOID:630 genetic disease ISO RGD:731411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0080351 CLOVES syndrome ISO RGD:731958 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CLOVES syndrome PMID:25741868|PMID:34040190 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0081139 agammaglobulinemia 7 ISO RGD:731958 D RGD:7240710 20180130 OMIM 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0081139 agammaglobulinemia 7 ISO RGD:731958 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive PMID:18414213|PMID:22351933|PMID:24033266|PMID:25133428|PMID:25741868|PMID:28492532|PMID:29178053 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111454 SHORT syndrome ISO RGD:731958 D RGD:7240710 20180130 OMIM 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111454 SHORT syndrome ISO RGD:731958 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SHORT syndrome PMID:10768093|PMID:11135494|PMID:12514365|PMID:16199547|PMID:17576681|PMID:18384141|PMID:18414213|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24033266|PMID:24088041|PMID:24459181|PMID:24728327|PMID:24886349|PMID:25133428|PMID:25157968|PMID:25326637|PMID:25488983|PMID:25741868|PMID:25939554|PMID:26497935|PMID:26529633|PMID:26633545|PMID:26974159|PMID:269880|PMID:27076228|PMID:27116393|PMID:27221134|PMID:27693481|PMID:27766312|PMID:28104464|PMID:28143957|PMID:28302518|PMID:28492532|PMID:28632845|PMID:29051493|PMID:29178053|PMID:29636477|PMID:29740032|PMID:32499645|PMID:34008892|PMID:34307262|PMID:34922003|PMID:6407320|PMID:7705412|PMID:8574420|PMID:9536098 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111949 immunodeficiency 36 ISO RGD:731958 D RGD:7240710 20180130 OMIM 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:0111949 immunodeficiency 36 ISO RGD:731958 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Immunodeficiency 36 PMID:11135494|PMID:12514365|PMID:18384141|PMID:18414213|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24033266|PMID:24886349|PMID:25133428|PMID:25326637|PMID:25488983|PMID:25741868|PMID:25939554|PMID:26529633|PMID:26974159|PMID:269880|PMID:27076228|PMID:27116393|PMID:27221134|PMID:27693481|PMID:27766312|PMID:28104464|PMID:28302518|PMID:28492532|PMID:28632845|PMID:29178053|PMID:34008892|PMID:6407320|PMID:7705412|PMID:8574420 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10283 prostate cancer ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:731958 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene) PMID:18336616|REF_RGD_ID:2301729 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10603 glucose intolerance ISO RGD:731958 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:33567340 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M326I (human) PMID:12185156|REF_RGD_ID:1625215 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10762 portal hypertension ISO RGD:3329 D RGD:9068941 20200609 RGD protein:altered localization, increased tyrosine phosphorylation:plasma membrane, stomach mucosa PMID:11826414|REF_RGD_ID:1625216 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10763 hypertension ISO RGD:3329 D RGD:9068941 20200609 RGD PMID:19015400|REF_RGD_ID:4108483 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:10763 hypertension ISO RGD:3329 D RGD:9068941 20200609 RGD protein:decreased expression:ventricular myocyte (rat) PMID:18300869|REF_RGD_ID:4108492 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:12306 vitiligo ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28836394 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:1380 endometrial cancer ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:21984976|REF_RGD_ID:13674179 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:14179 X-linked agammaglobulinemia ISO RGD:11103 D RGD:9068941 20220825 MouseDO OMIM:300310 | OMIM:300755 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:14566 disease of cellular proliferation ISO RGD:731958 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms PMID:19962457|PMID:22351933|PMID:24459181|PMID:25133428|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28104464|PMID:28492532|PMID:29051493 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:1909 melanoma ISO RGD:731958 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic PMID:25157968|PMID:25741868|PMID:26619011 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:21478295|REF_RGD_ID:13441595 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:2871 endometrial carcinoma ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:23636398|REF_RGD_ID:13628733 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:305 carcinoma ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:3068 glioblastoma ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glioblastoma PMID:19962457|PMID:25157968|PMID:26619011 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:363 uterine cancer ISO RGD:731958 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:25157968|PMID:25741868|PMID:26619011 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:3910 lung adenocarcinoma ISO RGD:731958 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:26695082|REF_RGD_ID:13464334 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:731958 D RGD:9068941 20200609 RGD PMID:25757764|REF_RGD_ID:13504823 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:5409 lung small cell carcinoma disease_progression ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3756668,rs12755(human) PMID:28280736|REF_RGD_ID:13825123 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:612 primary immunodeficiency disease ISO RGD:731958 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16199547|PMID:22351933|PMID:25133428|PMID:25488983|PMID:25741868|PMID:25939554|PMID:27076228|PMID:27116393|PMID:27693481|PMID:28302518|PMID:28492532|PMID:32499645|PMID:34307262 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:6171 uterine carcinosarcoma ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine carcinosarcoma PMID:19962457|PMID:25157968|PMID:26619011 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:731958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11135494|PMID:12514365|PMID:18384141|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24886349|PMID:25133428|PMID:25326637|PMID:25488983|PMID:25741868|PMID:25939554|PMID:26529633|PMID:26974159|PMID:269880|PMID:27076228|PMID:27116393|PMID:27221134|PMID:27693481|PMID:27766312|PMID:28302518|PMID:28492532|PMID:28632845|PMID:34008892|PMID:6407320|PMID:7705412|PMID:8574420 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3329 D RGD:9068941 20220520 RGD PMID:25999787|PMID:31801250|REF_RGD_ID:151893509|REF_RGD_ID:152177911 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:7148 rheumatoid arthritis ISO RGD:731958 D RGD:9068941 20220519 RGD mRNA:increased expression:cartilage tissue (human) PMID:31472145|REF_RGD_ID:152177908 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:7305 astroblastoma ISO RGD:731958 D RGD:9068941 20200609 RGD PMID:26956052|REF_RGD_ID:11343921 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:7305 astroblastoma severity ISO RGD:731958 D RGD:9068941 20200609 RGD PMID:26286747|REF_RGD_ID:13782052 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:8398 osteoarthritis ISO RGD:731958 D RGD:9068941 20220519 RGD mRNA:increased expression:cartilage tissue (human) PMID:31472145|REF_RGD_ID:152177908 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:8584 Burkitt lymphoma ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:8923 skin melanoma ISO RGD:731958 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin PMID:19962457|PMID:25157968|PMID:25741868|PMID:26619011 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:731958 D RGD:9068941 20211210 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167|PMID:33129824 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:731958 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Vascular Malformations and Overgrowth PMID:19962457|PMID:25157968|PMID:25741868|PMID:26619011|PMID:34040190 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9002992 Nematode Infections susceptibility ISO RGD:11103 D RGD:9068941 20200609 RGD PMID:11850627|REF_RGD_ID:737789 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9003191 Vascular Malformations ISO RGD:731958 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Vascular malformation PMID:25157968|PMID:25741868|PMID:26619011 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3329 D RGD:9068941 20200609 RGD proetin:decreased dimerization:skeletal muscle (rat) PMID:19100383|REF_RGD_ID:4108481 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9004356 Smith-Kingsmore Syndrome ISO RGD:731958 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Overgrowth syndrome PMID:25741868 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3329 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius (rat) PMID:18430054|REF_RGD_ID:2307338 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007367 Septic Peritonitis treatment ISO RGD:11103 D RGD:9068941 20200609 RGD PMID:11850627|REF_RGD_ID:737789 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007502 Brain Neoplasms ISO RGD:731958 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain PMID:19962457|PMID:25157968|PMID:25741868|PMID:26619011 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:11103 D RGD:9068941 20200609 RGD PMID:17283057|REF_RGD_ID:1625211 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:3329 D RGD:9068941 20200609 RGD PMID:10426374|REF_RGD_ID:1625262 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:731958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14714311 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9007692 Insulin Resistance ISO RGD:731958 D RGD:9068941 20200609 RGD associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta PMID:16332940|REF_RGD_ID:1625212 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731958 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal Neoplasms PMID:25157968|PMID:25741868|PMID:26619011 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9008939 Breast Neoplasms ISO RGD:11103 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary tumor (mouse) PMID:17699716|REF_RGD_ID:4108502 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9256 colorectal cancer ISO RGD:731958 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:22351933|PMID:25133428|PMID:25741868|PMID:28492532 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3329 D RGD:9068941 20200609 RGD protein:increased phosphorylation:retina (rat) PMID:18443201|REF_RGD_ID:4108490 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731958 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:14551916|REF_RGD_ID:11067972 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9970 obesity ISO RGD:11103 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:skeletal muscle, liver PMID:9399964|REF_RGD_ID:1625218 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9970 obesity ISO RGD:3329 D RGD:9068941 20200609 RGD protein:decreased expression:soleus PMID:16123202|REF_RGD_ID:1625220 9014683 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 gene DOID:9993 hypoglycemia ISO RGD:11103 D RGD:9068941 20200609 RGD PMID:9988280|REF_RGD_ID:737788 9014717 Dctn4 dynactin subunit 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9014717 Dctn4 dynactin subunit 4 gene DOID:1485 cystic fibrosis ISO RGD:736897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22772370 9014717 Dctn4 dynactin subunit 4 gene DOID:630 genetic disease ISO RGD:736897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014717 Dctn4 dynactin subunit 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736897 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9014717 Dctn4 dynactin subunit 4 gene DOID:9007417 Pseudomonas Infections ISO RGD:736897 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22772370 9014741 Gtf2h5 general transcription factor IIH subunit 5 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1345695 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 9014741 Gtf2h5 general transcription factor IIH subunit 5 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1345695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:28492532 9014741 Gtf2h5 general transcription factor IIH subunit 5 gene DOID:0111871 photosensitive trichothiodystrophy 3 ISO RGD:1345695 D RGD:7240710 20180130 OMIM 9014741 Gtf2h5 general transcription factor IIH subunit 5 gene DOID:0111871 photosensitive trichothiodystrophy 3 ISO RGD:1345695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive PMID:15220921|PMID:24986372|PMID:25620205|PMID:25741868|PMID:28492532|PMID:30359777 9014741 Gtf2h5 general transcription factor IIH subunit 5 gene DOID:630 genetic disease ISO RGD:1345695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9014751 Efcab12 EF-hand calcium binding domain 12 gene DOID:0111947 immunodeficiency 21 ISO RGD:1602666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 9014751 Efcab12 EF-hand calcium binding domain 12 gene DOID:12849 autistic disorder ISO RGD:1602666 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism 9014751 Efcab12 EF-hand calcium binding domain 12 gene DOID:630 genetic disease ISO RGD:1602666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014751 Efcab12 EF-hand calcium binding domain 12 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 9014751 Efcab12 EF-hand calcium binding domain 12 gene DOID:9270 alkaptonuria ISO RGD:1602666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9014762 Prr15 proline rich 15 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9014762 Prr15 proline rich 15 gene DOID:630 genetic disease ISO RGD:1603877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014771 Pmpcb peptidase, mitochondrial processing subunit beta gene DOID:0060902 Norman-Roberts syndrome ISO RGD:733027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:10973257|PMID:17124408|PMID:26046367|PMID:28454995|PMID:28492532 9014771 Pmpcb peptidase, mitochondrial processing subunit beta gene DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 ISO RGD:733027 D RGD:7240710 20190315 OMIM 9014771 Pmpcb peptidase, mitochondrial processing subunit beta gene DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 ISO RGD:733027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 6 | ClinVar Annotator: match by term: PMPCB-related mitochondrial disorder PMID:25741868|PMID:28492532|PMID:29576218 9014771 Pmpcb peptidase, mitochondrial processing subunit beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733027 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9014771 Pmpcb peptidase, mitochondrial processing subunit beta gene DOID:630 genetic disease ISO RGD:733027 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29576218 9014804 Fam72a family with sequence similarity 72 member A gene DOID:0080600 COVID-19 ISO RGD:1626688 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9014804 Fam72a family with sequence similarity 72 member A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1626688 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9014804 Fam72a family with sequence similarity 72 member A gene DOID:12849 autistic disorder ISO RGD:1626688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9014804 Fam72a family with sequence similarity 72 member A gene DOID:1540 parathyroid carcinoma ISO RGD:1626688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9014804 Fam72a family with sequence similarity 72 member A gene DOID:630 genetic disease ISO RGD:1626688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014804 Fam72a family with sequence similarity 72 member A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1626688 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9014804 Fam72a family with sequence similarity 72 member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1626688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:0080600 COVID-19 ISO RGD:1323730 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1323730 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323730 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:1059 intellectual disability ISO RGD:1323730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:1485 cystic fibrosis ISO RGD:1323730 D RGD:9068941 20200609 RGD PMID:18334635|REF_RGD_ID:5135022 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323730 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27103662 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323730 D RGD:9068941 20200609 RGD PMID:19392992|REF_RGD_ID:5135019 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323730 D RGD:9068941 20200609 RGD Aspirin exacerbated asthma PMID:19796209|REF_RGD_ID:5135020 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:2841 asthma ISO RGD:1323731 D RGD:9068941 20200609 RGD PMID:18757520|REF_RGD_ID:5135018 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:4483 rhinitis ISO RGD:1323730 D RGD:9068941 20200609 RGD PMID:19230460|REF_RGD_ID:5135021 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:4483 rhinitis ISO RGD:1323731 D RGD:9068941 20200609 RGD PMID:19608418|REF_RGD_ID:5135017 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:630 genetic disease ISO RGD:1323730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014812 Ptgdr2 prostaglandin D2 receptor 2 gene DOID:9005372 Inflammation ISO RGD:1323731 D RGD:9068941 20200609 RGD PMID:21646789|REF_RGD_ID:5135015 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:0050855 renal fibrosis ISO RGD:1553522 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney cortex: PMID:22342673|REF_RGD_ID:7245951 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:0060180 colitis ISO RGD:708425 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney: PMID:23307618|REF_RGD_ID:7245473 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1352552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:10763 hypertension ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23085980|REF_RGD_ID:7245484 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:10825 essential hypertension ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:22923545|REF_RGD_ID:7245500 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:11111 hydronephrosis ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:21279810|REF_RGD_ID:7245985 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:12556 acute kidney tubular necrosis ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule, urine: PMID:12081583|REF_RGD_ID:7245970 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19225054 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:1591 renovascular hypertension ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:22923545|REF_RGD_ID:7245500 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:1920 hyperuricemia ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23673972|REF_RGD_ID:7244371 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:15153541|REF_RGD_ID:5128853 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:2527 nephrosis ISO RGD:708425 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:17213874|REF_RGD_ID:7246891 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:2841 asthma ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:20628202|REF_RGD_ID:5128851 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23135864|REF_RGD_ID:7245479 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:21467131|REF_RGD_ID:7245983 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118187|PMID:21259293|PMID:21835770|PMID:22005293|PMID:23052191|PMID:23845967|PMID:24189134|PMID:24361871|PMID:24958931|PMID:28885000 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Pyelonephritis;protein:increased expression:urine: PMID:23319831|REF_RGD_ID:7245472 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:1553522 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23019274|REF_RGD_ID:7245495 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:3021 acute kidney failure ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:23683031|REF_RGD_ID:7244370 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:3310 atopic dermatitis ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:16159638|REF_RGD_ID:5128852 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23352434|REF_RGD_ID:7245470 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:5199 ureteral obstruction ISO RGD:1553522 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney tubule: PMID:22257277|REF_RGD_ID:7245953 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:557 kidney disease ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19349640|PMID:20181666|PMID:20438795|PMID:21888673|PMID:23019274|PMID:24863737|PMID:24880025 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:557 kidney disease disease_progression ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis; PMID:23547217|REF_RGD_ID:7244373 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:576 proteinuria ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19225054 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:576 proteinuria ISO RGD:708425 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney,urine PMID:16467126|REF_RGD_ID:7245980 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:630 genetic disease ISO RGD:1352552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1352552 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:784 chronic kidney disease ISO RGD:708425 D RGD:9068941 20200609 RGD PMID:22269876|REF_RGD_ID:7245952 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1553522 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:12388382|REF_RGD_ID:7245969 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9000884 Rhabdomyolysis ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22937747|REF_RGD_ID:7245499 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9001542 Albuminuria ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;protein:increased expression:urine: PMID:21630304|REF_RGD_ID:7245982 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,Type 2;protein:increased expression:urine: PMID:22015481|REF_RGD_ID:7245960 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:22997966|REF_RGD_ID:7245497 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1352552 D RGD:9068941 20200609 RGD associated with Diabetes mellitus, Type 1; PMID:20980978|REF_RGD_ID:7246890 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9004283 Transplant Rejection ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23435265|REF_RGD_ID:7244382 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9004484 Sepsis disease_progression ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23131280|REF_RGD_ID:7245480 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9004912 Hyperoxaluria ISO RGD:708425 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney, urine PMID:22984472|REF_RGD_ID:7245498 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9005666 Contrast-Induced Nephropathy ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23335628|REF_RGD_ID:7245471 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9005749 Necrosis ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880025 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1352552 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23085062|REF_RGD_ID:7245489 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1553522 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23019274|REF_RGD_ID:7245495 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:urine: PMID:23552495|REF_RGD_ID:7244372 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15805072|PMID:24361871|PMID:28885000 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9006956 nephrotoxicity treatment ISO RGD:708425 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9007325 Cardio-Renal Syndrome ISO RGD:708425 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule: PMID:22367506|REF_RGD_ID:7245950 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9007325 Cardio-Renal Syndrome susceptibility ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23220287|REF_RGD_ID:7245477 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:1352552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgE responsiveness, atopic PMID:14534576|PMID:21339644 9014824 Havcr1 hepatitis A virus cellular receptor 1 gene DOID:9620 vesicoureteral reflux ISO RGD:1352552 D RGD:9068941 20200609 RGD PMID:23200959|REF_RGD_ID:7245478 9014834 Myl10 myosin light chain 10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603931 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9014834 Myl10 myosin light chain 10 gene DOID:630 genetic disease ISO RGD:1603931 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014846 Rfc5 replication factor C subunit 5 gene DOID:630 genetic disease ISO RGD:1319540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014866 Polr2b RNA polymerase II subunit B gene DOID:630 genetic disease ISO RGD:1319837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014866 Polr2b RNA polymerase II subunit B gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1319837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 9014895 Sestd1 SEC14 and spectrin domain containing 1 gene DOID:630 genetic disease ISO RGD:1349123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014895 Sestd1 SEC14 and spectrin domain containing 1 gene DOID:9004657 Weight Gain ISO RGD:1349123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0050451 Brugada syndrome ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:733435 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:25741868|PMID:28492532 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0060320 inguinal hernia ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inguinal hernia PMID:25741868 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0080324 tuberous sclerosis 1 ISO RGD:733435 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0080333 aortic valve disease 1 ISO RGD:733435 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:25741868|PMID:28074886|PMID:28492532|PMID:30858776|PMID:31903434 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0080726 Ehlers-Danlos syndrome classic type 2 ISO RGD:733435 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 PMID:15580559|PMID:22696272|PMID:25741868|PMID:28492532|PMID:32720758|PMID:32938213|PMID:33161638 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:17576681|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24685354|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26854089|PMID:27011056|PMID:28166811|PMID:28492532|PMID:29924831|PMID:30858776|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:733435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:17576681|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24685354|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26854089|PMID:27011056|PMID:28492532|PMID:29924831|PMID:30858776|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:733435 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:17576681|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24685354|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26854089|PMID:27011056|PMID:28492532|PMID:29924831|PMID:30858776|PMID:32508047|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:733435 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:17576681|PMID:19019335|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24685354|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26854089|PMID:27011056|PMID:28492532|PMID:29924831|PMID:30858776|PMID:32508047|PMID:33737726|PMID:35723357|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0081097 Rafiq syndrome ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0110816 hereditary spastic paraplegia 7 ISO RGD:733435 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type PMID:25326637|PMID:28492532 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis PMID:25326637|PMID:25741868|PMID:28492532 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:10283 prostate cancer ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:11836 clubfoot ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:733435 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10471441|PMID:10602121|PMID:10777716|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16199547|PMID:16431952|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26854089|PMID:28074886|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30675029|PMID:30858776|PMID:31064749|PMID:31829210|PMID:32508047|PMID:32938213|PMID:33206719|PMID:33737726|PMID:33914963|PMID:34265140|PMID:35396906|PMID:35723357 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28074886|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31625567|PMID:31903434|PMID:32508047|PMID:32938213|PMID:33206719|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28074886|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31239369|PMID:31625567|PMID:31903434|PMID:32508047|PMID:32938213|PMID:33206719|PMID:34265140|PMID:34422331|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28074886|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31239369|PMID:31625567|PMID:31903434|PMID:32508047|PMID:32938213|PMID:33206719|PMID:33737726|PMID:34265140|PMID:34422331|PMID:35723357|PMID:36411388|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28074886|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31239369|PMID:31625567|PMID:31903434|PMID:32508047|PMID:32938213|PMID:33206719|PMID:33737726|PMID:34265140|PMID:34422331|PMID:35723357|PMID:36411388|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28074886|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31239369|PMID:31625567|PMID:31903434|PMID:32508047|PMID:32938213|PMID:33206719|PMID:33737726|PMID:33914963|PMID:34265140|PMID:34422331|PMID:35723357|PMID:36411388|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:733435 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:16751282|PMID:17576681|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28074886|PMID:28454995|PMID:28492532|PMID:28550590|PMID:28748566|PMID:29578302|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31239369|PMID:31625567|PMID:31903434|PMID:32508047|PMID:32938213|PMID:33206719|PMID:33737726|PMID:33914963|PMID:34041919|PMID:34265140|PMID:34422331|PMID:35723357|PMID:36411388|PMID:7695699|PMID:7749409|PMID:7929094|PMID:8218237|PMID:8349697|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14323 Marfan syndrome ISO RGD:733435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:7240710 20180711 OMIM 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25640679|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31903434|PMID:32581362|PMID:32720758|PMID:32938213|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:28166811|PMID:28454995|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31903434|PMID:32581362|PMID:32720758|PMID:32938213|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16431952|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:21611149|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26188975|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28454995|PMID:28485813|PMID:28492532|PMID:28550590|PMID:28714197|PMID:28748566|PMID:29578302|PMID:29907982|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31625567|PMID:31660461|PMID:31903434|PMID:32581362|PMID:32720758|PMID:32766464|PMID:32938213|PMID:33161638|PMID:33206719|PMID:33656776|PMID:33834621|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16431952|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:21611149|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26188975|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28074886|PMID:28454995|PMID:28485813|PMID:28492532|PMID:28550590|PMID:28714197|PMID:28748566|PMID:29578302|PMID:29907982|PMID:29924831|PMID:30467950|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31625567|PMID:31660461|PMID:31903434|PMID:32508047|PMID:32581362|PMID:32720758|PMID:32766464|PMID:32938213|PMID:33161638|PMID:33206719|PMID:33656776|PMID:33834621|PMID:34422331|PMID:35723357|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:733435 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10471441|PMID:10602121|PMID:10777716|PMID:10796876|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15264295|PMID:15580559|PMID:16199547|PMID:16431952|PMID:16751282|PMID:17576681|PMID:18972565|PMID:19011090|PMID:19019335|PMID:19344236|PMID:19370768|PMID:20301422|PMID:20308875|PMID:20635400|PMID:20979576|PMID:21541907|PMID:21611149|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24088041|PMID:24685354|PMID:24951259|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26188975|PMID:26608033|PMID:26633545|PMID:26854089|PMID:27011056|PMID:27959697|PMID:27975164|PMID:28074886|PMID:28454995|PMID:28485813|PMID:28492532|PMID:28550590|PMID:28714197|PMID:28748566|PMID:29578302|PMID:29907982|PMID:29924831|PMID:30467950|PMID:30675029|PMID:30858776|PMID:31064749|PMID:31141158|PMID:31239369|PMID:31625567|PMID:31660461|PMID:31829210|PMID:31903434|PMID:32467296|PMID:32508047|PMID:32581362|PMID:32720758|PMID:32766464|PMID:32938213|PMID:33161638|PMID:33206719|PMID:33656776|PMID:33737726|PMID:33834621|PMID:33914963|PMID:34041919|PMID:34265140|PMID:34422331|PMID:35396906|PMID:35723357|PMID:36411388|PMID:7695699|PMID:8218237|PMID:8575750|PMID:8923000|PMID:8950675|PMID:9042913|PMID:9536098|PMID:9683580 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:2213 hemorrhagic disease ISO RGD:733435 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:29924831|PMID:31064749|PMID:32938213 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:733435 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:305 carcinoma ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:3627 aortic aneurysm ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic dilatation 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:3652 Leigh disease ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:630 genetic disease ISO RGD:733435 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19011090|PMID:19344236|PMID:22696272|PMID:23587214|PMID:28492532|PMID:7695699|PMID:8218237 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:733435 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10602121|PMID:10946364|PMID:11992482|PMID:15580559|PMID:17576681|PMID:19370768|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:25741868|PMID:27975164|PMID:28074886|PMID:28492532|PMID:28550590|PMID:29924831|PMID:30858776|PMID:31903434|PMID:33914963|PMID:34422331|PMID:36411388|PMID:9536098 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9000058 Keloid ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9000064 Cardiac Arrhythmias ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9000348 Confusion ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Confusion PMID:25741868|PMID:28492532 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9001752 Shoulder Dislocation ISO RGD:733435 D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Shoulder subluxation 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9002304 Prostatic Neoplasms ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9003133 Hypertelorism ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9003323 Multifocal Fibromuscular Dysplasia ISO RGD:733435 D RGD:7240710 20210526 OMIM 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9003323 Multifocal Fibromuscular Dysplasia ISO RGD:733435 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: COL5A1-related condition | ClinVar Annotator: match by term: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL | ClinVar Annotator: match by term: Fibromuscular dysplasia, multifocal PMID:10471441|PMID:10602121|PMID:10946364|PMID:11992482|PMID:12145749|PMID:15580559|PMID:19019335|PMID:19370768|PMID:20301422|PMID:20635400|PMID:20979576|PMID:22696272|PMID:24033266|PMID:24951259|PMID:25326637|PMID:25741868|PMID:26608033|PMID:27975164|PMID:28492532|PMID:29578302|PMID:32938213|PMID:35723357|PMID:36411388 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:733435 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9005077 Joint Instability ISO RGD:733435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:733435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:28492532|PMID:29907982 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9007096 Stroke ISO RGD:733435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:19344236|PMID:22696272|PMID:23587214|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237 9014928 Col5a1 collagen type V alpha 1 chain gene DOID:9008810 Spontaneous Rupture ISO RGD:733435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20635400 9014997 Znf384 zinc finger protein 384 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345674 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9014997 Znf384 zinc finger protein 384 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9014997 Znf384 zinc finger protein 384 gene DOID:0111621 Temtamy syndrome ISO RGD:1345674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9014997 Znf384 zinc finger protein 384 gene DOID:630 genetic disease ISO RGD:1345674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9014997 Znf384 zinc finger protein 384 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9015027 Mat1a methionine adenosyltransferase 1A gene DOID:0050544 hypermethioninemia ISO RGD:732753 D RGD:7240710 20180130 OMIM 9015027 Mat1a methionine adenosyltransferase 1A gene DOID:0050544 hypermethioninemia ISO RGD:732753 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deficiency of methionine adenosyltransferase | ClinVar Annotator: match by term: Hepatic methionine adenosyltransferase deficiency | ClinVar Annotator: match by term: Hypermethioninemia PMID:10677294|PMID:11278456|PMID:1527987|PMID:15935930|PMID:16199547|PMID:16435220|PMID:1683972|PMID:17576681|PMID:18500573|PMID:20675163|PMID:22178350|PMID:23425511|PMID:23430947|PMID:24231718|PMID:24445979|PMID:25638462|PMID:25741868|PMID:26289392|PMID:26933843|PMID:28186605|PMID:28492532|PMID:28748147|PMID:30389272|PMID:31061746|PMID:32335878|PMID:32496220|PMID:35095998|PMID:3812486|PMID:4421454|PMID:7229751|PMID:7560086|PMID:7573050|PMID:8770875|PMID:9042912|PMID:9482646|PMID:9536098 9015027 Mat1a methionine adenosyltransferase 1A gene DOID:3213 demyelinating disease ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8770875 9015027 Mat1a methionine adenosyltransferase 1A gene DOID:630 genetic disease ISO RGD:732753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26933843|PMID:28492532 9015027 Mat1a methionine adenosyltransferase 1A gene DOID:684 hepatocellular carcinoma ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12060674 9015027 Mat1a methionine adenosyltransferase 1A gene DOID:9002221 Hyperplasia ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12060674 9015027 Mat1a methionine adenosyltransferase 1A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 9015027 Mat1a methionine adenosyltransferase 1A gene DOID:9252 amino acid metabolic disorder ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7560086|PMID:8770875 9015027 Mat1a methionine adenosyltransferase 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23665415 9015027 Mat1a methionine adenosyltransferase 1A gene DOID:936 brain disease ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8770875 9015027 Mat1a methionine adenosyltransferase 1A gene DOID:9452 steatotic liver disease ISO RGD:732753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12060674 9015041 Rab11a RAB11A, member RAS oncogene family gene DOID:0070297 primary microcephaly ISO RGD:1343833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary microcephaly PMID:25741868 9015041 Rab11a RAB11A, member RAS oncogene family gene DOID:0110935 nemaline myopathy 6 ISO RGD:1343833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 9015041 Rab11a RAB11A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1343833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868 9015041 Rab11a RAB11A, member RAS oncogene family gene DOID:10907 microcephaly ISO RGD:1343833 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital microcephaly PMID:25741868 9015041 Rab11a RAB11A, member RAS oncogene family gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9015041 Rab11a RAB11A, member RAS oncogene family gene DOID:2717 Bloom syndrome ISO RGD:1343833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9015041 Rab11a RAB11A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1343833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9015041 Rab11a RAB11A, member RAS oncogene family gene DOID:9001341 Chloracne ISO RGD:1343833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 9015041 Rab11a RAB11A, member RAS oncogene family gene DOID:9256 colorectal cancer ISO RGD:1343833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9015054 Irf2 interferon regulatory factor 2 gene DOID:0080600 COVID-19 ISO RGD:1312641 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9015054 Irf2 interferon regulatory factor 2 gene DOID:630 genetic disease ISO RGD:1312641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015054 Irf2 interferon regulatory factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1312641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561517 9015084 Nudt2 nudix hydrolase 2 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9015084 Nudt2 nudix hydrolase 2 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1352613 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9015084 Nudt2 nudix hydrolase 2 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9015084 Nudt2 nudix hydrolase 2 gene DOID:1059 intellectual disability ISO RGD:1352613 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:33058507 9015084 Nudt2 nudix hydrolase 2 gene DOID:630 genetic disease ISO RGD:1352613 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015084 Nudt2 nudix hydrolase 2 gene DOID:9000579 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY ISO RGD:1352613 D RGD:7240710 20220629 OMIM 9015084 Nudt2 nudix hydrolase 2 gene DOID:9000579 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY ISO RGD:1352613 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with or without peripheral neuropathy PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:33058507 9015084 Nudt2 nudix hydrolase 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1352613 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:33058507 9015084 Nudt2 nudix hydrolase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1352613 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20533549 9015084 Nudt2 nudix hydrolase 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352613 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9015084 Nudt2 nudix hydrolase 2 gene DOID:9870 galactosemia ISO RGD:1352613 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9015091 Rrp15 ribosomal RNA processing 15 homolog gene DOID:0050439 Usher syndrome ISO RGD:1606298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 9015091 Rrp15 ribosomal RNA processing 15 homolog gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1606298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 9015091 Rrp15 ribosomal RNA processing 15 homolog gene DOID:1540 parathyroid carcinoma ISO RGD:1606298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9015091 Rrp15 ribosomal RNA processing 15 homolog gene DOID:630 genetic disease ISO RGD:1606298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015091 Rrp15 ribosomal RNA processing 15 homolog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606298 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9015116 Rbbp7 RB binding protein 7, chromatin remodeling factor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9015116 Rbbp7 RB binding protein 7, chromatin remodeling factor gene DOID:12849 autistic disorder ISO RGD:732412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9015116 Rbbp7 RB binding protein 7, chromatin remodeling factor gene DOID:630 genetic disease ISO RGD:732412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015116 Rbbp7 RB binding protein 7, chromatin remodeling factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9015132 Csta cystatin A gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1320029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:11807402|PMID:20798521|PMID:28492532 9015132 Csta cystatin A gene DOID:0070523 peeling skin syndrome 4 ISO RGD:1320029 D RGD:7240710 20180130 OMIM 9015132 Csta cystatin A gene DOID:0070523 peeling skin syndrome 4 ISO RGD:1320029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peeling skin syndrome 4 PMID:12890214|PMID:21944047|PMID:22066523|PMID:23534700|PMID:25400170 9015132 Csta cystatin A gene DOID:3068 glioblastoma ISO RGD:1320029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22287159 9015132 Csta cystatin A gene DOID:630 genetic disease ISO RGD:1320029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015132 Csta cystatin A gene DOID:9000918 Disease Progression ISO RGD:1320029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20461718|PMID:22287159 9015132 Csta cystatin A gene DOID:9000965 Neoplasm Metastasis ISO RGD:1320029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20461718 9015132 Csta cystatin A gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 9015132 Csta cystatin A gene DOID:9270 alkaptonuria ISO RGD:1320029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9015139 Ngly1 N-glycanase 1 gene DOID:0060728 NGLY1-deficiency ISO RGD:1318334 D RGD:7240710 20180130 OMIM 9015139 Ngly1 N-glycanase 1 gene DOID:0060728 NGLY1-deficiency ISO RGD:1318334 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation | ClinVar Annotator: match by term: Congenital disorder of deglycosylation 1 | ClinVar Annotator: match by term: NGLY1-related condition PMID:16199547|PMID:17576681|PMID:18414213|PMID:22581936|PMID:24088041|PMID:24651605|PMID:25220016|PMID:25356970|PMID:25741868|PMID:25900930|PMID:26350515|PMID:26633545|PMID:26795593|PMID:27388694|PMID:28330790|PMID:28492532|PMID:29419975|PMID:29550355|PMID:30740912|PMID:31311714|PMID:31497478|PMID:31957011|PMID:31965062|PMID:32123317|PMID:32422350|PMID:32576142|PMID:33098801|PMID:34582790|PMID:34712575|PMID:35243670|PMID:35565658|PMID:35753512|PMID:36102038|PMID:9536098 9015139 Ngly1 N-glycanase 1 gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:1318334 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 12 PMID:24651605|PMID:28492532 9015139 Ngly1 N-glycanase 1 gene DOID:1059 intellectual disability ISO RGD:1318334 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24651605|PMID:25220016|PMID:28492532|PMID:33098801|PMID:34582790|PMID:35243670 9015139 Ngly1 N-glycanase 1 gene DOID:630 genetic disease ISO RGD:1318334 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24651605|PMID:25356970|PMID:25741868|PMID:26795593|PMID:28330790|PMID:28492532|PMID:31311714|PMID:31497478|PMID:31965062|PMID:35243670 9015139 Ngly1 N-glycanase 1 gene DOID:9000842 Proteostasis Deficiencies ISO RGD:1308518 D RGD:9068941 20201015 RGD PMID:32259258|REF_RGD_ID:39457703 9015139 Ngly1 N-glycanase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318334 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality PMID:25741868|PMID:29550355|PMID:31965062 9015139 Ngly1 N-glycanase 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1318334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 9015181 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347478 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9015181 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1347478 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:16459341|PMID:25741868|PMID:30177809|PMID:30298622|PMID:30303587 9015181 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:0060308 autosomal recessive intellectual developmental disorder ISO RGD:1347478 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal recessive PMID:27148795 9015181 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:0110518 autosomal recessive nonsyndromic deafness 67 ISO RGD:1347478 D RGD:7240710 20180130 OMIM 9015181 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:0110518 autosomal recessive nonsyndromic deafness 67 ISO RGD:1347478 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 67 | ClinVar Annotator: match by term: LHFPL5-related condition PMID:16459341|PMID:16752389|PMID:24033266|PMID:25741868|PMID:27148795|PMID:28492532|PMID:30177809|PMID:30298622|PMID:30303587|PMID:32747562 9015181 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:1059 intellectual disability ISO RGD:1347478 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability PMID:27148795 9015181 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:630 genetic disease ISO RGD:1347478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9015181 Lhfpl5 LHFPL tetraspan subfamily member 5 gene DOID:9004538 Hearing Loss ISO RGD:1347478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:28492532|PMID:30311386 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:0050546 congenital adrenal insufficiency ISO RGD:735631 D RGD:7240710 20180130 OMIM 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:0050546 congenital adrenal insufficiency ISO RGD:735631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY PMID:11502818|PMID:12161514|PMID:15507506|PMID:16705068|PMID:18182448|PMID:19116240|PMID:21159840|PMID:21880796|PMID:23337730|PMID:24033266|PMID:25741868|PMID:26300845|PMID:27008691|PMID:28492532|PMID:29178636|PMID:30233493|PMID:30299480|PMID:30620006 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:735631 D RGD:9068941 20200609 RGD DNA:splice-site mutation PMID:12161514|REF_RGD_ID:1599693 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:0060041 autism spectrum disorder ISO RGD:735631 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:10763 hypertension ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:increased expression:hypothalamus PMID:16116051|REF_RGD_ID:1599701 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:11446 sciatic neuropathy ISO RGD:69325 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:16632873|REF_RGD_ID:4889134 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:1824 status epilepticus ISO RGD:69325 D RGD:9068941 20200609 RGD Protein:increased expression:brain PMID:16780839|REF_RGD_ID:1599696 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:1924 hypogonadism ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis (rat) PMID:17880366|REF_RGD_ID:4833436 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:1935 Bardet-Biedl syndrome ISO RGD:735631 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:2527 nephrosis ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:decreased expression PMID:16574160|REF_RGD_ID:1599698 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:2717 Bloom syndrome ISO RGD:735631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:4195 hyperglycemia ISO RGD:69325 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:ovary (rat) PMID:18353182|REF_RGD_ID:4785271 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:5419 schizophrenia ISO RGD:735631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:630 genetic disease ISO RGD:735631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:9000998 Brain Injuries ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:increased expression:hindbrain PMID:16329132|REF_RGD_ID:1599699 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:9002231 Fetal Growth Retardation ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland, maternal (rat) PMID:17881205|REF_RGD_ID:4832477 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:735631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11502818 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:9003787 Lipoid Congenital Adrenal Hyperplasia ISO RGD:735631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11502818 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:9003936 Cardiomegaly ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle tissue (rat) PMID:19349910|REF_RGD_ID:4145630 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:9003936 Cardiomegaly ISO RGD:735632 D RGD:9068941 20200609 RGD mRNA:increased expression:cardiac muscle tissue (mouse) PMID:19349910|REF_RGD_ID:4145630 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:decreased expression:sciatic nerve (rat) PMID:20826654|REF_RGD_ID:4145530 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:9007715 Endometrial Neoplasms ISO RGD:735631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:9008622 Adrenal Insufficiency ISO RGD:735631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11502818 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:9256 colorectal cancer ISO RGD:735631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9015188 LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial gene DOID:9352 type 2 diabetes mellitus ISO RGD:69325 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis, Leydig cell (rat) PMID:18481435|REF_RGD_ID:4889107 9015212 Plxnb3 plexin B3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1350171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9015212 Plxnb3 plexin B3 gene DOID:0050476 Barth syndrome ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9015212 Plxnb3 plexin B3 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 9015212 Plxnb3 plexin B3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 9015212 Plxnb3 plexin B3 gene DOID:0080574 congenital disorder of glycosylation Iy ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y 9015212 Plxnb3 plexin B3 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1350171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 9015212 Plxnb3 plexin B3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1350171 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 9015212 Plxnb3 plexin B3 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1350171 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome PMID:25741868 9015212 Plxnb3 plexin B3 gene DOID:10588 adrenoleukodystrophy ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9015212 Plxnb3 plexin B3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9015212 Plxnb3 plexin B3 gene DOID:12849 autistic disorder ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9015212 Plxnb3 plexin B3 gene DOID:13628 favism ISO RGD:1350171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 9015212 Plxnb3 plexin B3 gene DOID:2729 dyskeratosis congenita ISO RGD:1350171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 9015212 Plxnb3 plexin B3 gene DOID:607 paraplegia ISO RGD:1350171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9015212 Plxnb3 plexin B3 gene DOID:630 genetic disease ISO RGD:1350171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015212 Plxnb3 plexin B3 gene DOID:9002720 Splenomegaly ISO RGD:1350171 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 9015212 Plxnb3 plexin B3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9015286 Wdr70 WD repeat domain 70 gene DOID:630 genetic disease ISO RGD:1605675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015286 Wdr70 WD repeat domain 70 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9015286 Wdr70 WD repeat domain 70 gene DOID:9008086 Developmental Disabilities ISO RGD:1605675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9015313 LOC102016911 olfactory receptor 51E1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1605574 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9015313 LOC102016911 olfactory receptor 51E1 gene DOID:303 substance-related disorder ISO RGD:1605574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9015313 LOC102016911 olfactory receptor 51E1 gene DOID:630 genetic disease ISO RGD:1605574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015333 P2rx5 purinergic receptor P2X 5 gene DOID:3613 Canavan disease ISO RGD:737418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 9015333 P2rx5 purinergic receptor P2X 5 gene DOID:630 genetic disease ISO RGD:737418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015405 Panx2 pannexin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 9015405 Panx2 pannexin 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1349764 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 9015405 Panx2 pannexin 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9015405 Panx2 pannexin 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 9015405 Panx2 pannexin 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1349764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 9015405 Panx2 pannexin 2 gene DOID:1059 intellectual disability ISO RGD:1349764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9015405 Panx2 pannexin 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1349764 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 9015405 Panx2 pannexin 2 gene DOID:630 genetic disease ISO RGD:1349764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015417 Fkbp1b FKBP prolyl isomerase 1B gene DOID:0050700 cardiomyopathy ISO RGD:61835 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19000375|REF_RGD_ID:2302065 9015417 Fkbp1b FKBP prolyl isomerase 1B gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:62126 D RGD:9068941 20220825 MouseDO 9015417 Fkbp1b FKBP prolyl isomerase 1B gene DOID:12361 Graves' disease ISO RGD:735951 D RGD:9068941 20200609 RGD PMID:15497458|REF_RGD_ID:1580387 9015417 Fkbp1b FKBP prolyl isomerase 1B gene DOID:6000 congestive heart failure ISO RGD:61835 D RGD:9068941 20200609 RGD associated with Shock, Septic PMID:17637193|REF_RGD_ID:2302075 9015417 Fkbp1b FKBP prolyl isomerase 1B gene DOID:630 genetic disease ISO RGD:735951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015417 Fkbp1b FKBP prolyl isomerase 1B gene DOID:9000039 Spinal Cord Injuries ISO RGD:61835 D RGD:9068941 20230622 RGD PMID:27998200|REF_RGD_ID:329853757 9015417 Fkbp1b FKBP prolyl isomerase 1B gene DOID:9000064 Cardiac Arrhythmias ISO RGD:61835 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18570278|REF_RGD_ID:2302073 9015417 Fkbp1b FKBP prolyl isomerase 1B gene DOID:9000184 Ventricular Fibrillation ISO RGD:61835 D RGD:9068941 20200609 RGD associated with Myocardial Reperfusion Injury PMID:17506935|REF_RGD_ID:2302077 9015427 Slc5a8 solute carrier family 5 member 8 gene DOID:1920 hyperuricemia ISO RGD:1352176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20589576 9015427 Slc5a8 solute carrier family 5 member 8 gene DOID:630 genetic disease ISO RGD:1352176 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015427 Slc5a8 solute carrier family 5 member 8 gene DOID:9002928 Colonic Neoplasms ISO RGD:1352176 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15090606|PMID:16670197 9015446 Bicd1 BICD cargo adaptor 1 gene DOID:630 genetic disease ISO RGD:1319790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015459 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:1059 intellectual disability ISO RGD:1345309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 9015459 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:2843 long QT syndrome ISO RGD:1345309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 9015459 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:5419 schizophrenia ISO RGD:1557097 D RGD:9068941 20220825 MouseDO OMIM:181500 9015459 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:630 genetic disease ISO RGD:1345309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015459 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9003129 Chromosome 3, Monosomy 3p25 ISO RGD:1345309 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 9015459 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9015459 Srgap3 SLIT-ROBO Rho GTPase activating protein 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1345309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 9015491 Tcaf1 TRPM8 channel associated factor 1 gene DOID:630 genetic disease ISO RGD:1602499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015516 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9015516 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:0080773 delta beta-thalassemia ISO RGD:68481 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9015516 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:0111969 immunodeficiency 39 ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 9015516 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9015516 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9015516 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:5572 Beckwith-Wiedemann syndrome ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:18836444 9015516 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:630 genetic disease ISO RGD:68481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015516 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 9015516 Mrpl23 mitochondrial ribosomal protein L23 gene DOID:9008576 Wilms Tumor 2 ISO RGD:68481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wilms tumor 2 PMID:18836444 9015525 Tigd2 tigger transposable element derived 2 gene DOID:630 genetic disease ISO RGD:1348664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015525 Tigd2 tigger transposable element derived 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 9015535 Fam234a family with sequence similarity 234 member A gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345598 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 9015535 Fam234a family with sequence similarity 234 member A gene DOID:1826 epilepsy ISO RGD:1345598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 9015535 Fam234a family with sequence similarity 234 member A gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345598 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9015535 Fam234a family with sequence similarity 234 member A gene DOID:630 genetic disease ISO RGD:1345598 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015535 Fam234a family with sequence similarity 234 member A gene DOID:9352 type 2 diabetes mellitus ISO RGD:1345598 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 9015553 Slc20a2 solute carrier family 20 member 2 gene DOID:0060230 basal ganglia calcification ISO RGD:736588 D RGD:9068941 20220825 MouseDO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 9015553 Slc20a2 solute carrier family 20 member 2 gene DOID:0090039 torsion dystonia 6 ISO RGD:733735 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 9015553 Slc20a2 solute carrier family 20 member 2 gene DOID:0111959 immunodeficiency 15B ISO RGD:733735 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 9015553 Slc20a2 solute carrier family 20 member 2 gene DOID:182 calcinosis ISO RGD:733735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 9015553 Slc20a2 solute carrier family 20 member 2 gene DOID:630 genetic disease ISO RGD:733735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9015553 Slc20a2 solute carrier family 20 member 2 gene DOID:679 basal ganglia disease ISO RGD:733735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 9015553 Slc20a2 solute carrier family 20 member 2 gene DOID:8725 vascular dementia ISO RGD:733735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 9015553 Slc20a2 solute carrier family 20 member 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733735 D RGD:7240710 20180130 OMIM 9015553 Slc20a2 solute carrier family 20 member 2 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:733735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition PMID:20301594|PMID:22327515|PMID:23334463|PMID:23437308|PMID:24209445|PMID:25178512|PMID:25284758|PMID:25741868|PMID:26475232|PMID:27726124|PMID:27943094|PMID:28391956|PMID:28477710|PMID:28492532|PMID:30609140|PMID:31618668|PMID:32705272|PMID:34732400 9015553 Slc20a2 solute carrier family 20 member 2 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:733735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 9015580 Mta1 metastasis associated 1 gene DOID:14330 Parkinson's disease ISO RGD:731516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27044752 9015580 Mta1 metastasis associated 1 gene DOID:289 endometriosis ISO RGD:731516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 9015580 Mta1 metastasis associated 1 gene DOID:630 genetic disease ISO RGD:731516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015580 Mta1 metastasis associated 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:731516 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;mRNA:increased expression:lung PMID:11804687|REF_RGD_ID:9588220 9015618 Gcc2 GRIP and coiled-coil domain containing 2 gene DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 ISO RGD:1605713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 9015618 Gcc2 GRIP and coiled-coil domain containing 2 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1605713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473 9015618 Gcc2 GRIP and coiled-coil domain containing 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1605713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sensorineural hearing impairment PMID:27876815 9015618 Gcc2 GRIP and coiled-coil domain containing 2 gene DOID:630 genetic disease ISO RGD:1605713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015618 Gcc2 GRIP and coiled-coil domain containing 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1605713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:28492532 9015663 Osgin2 oxidative stress induced growth inhibitor family member 2 gene DOID:630 genetic disease ISO RGD:1314879 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015663 Osgin2 oxidative stress induced growth inhibitor family member 2 gene DOID:7400 Nijmegen breakage syndrome ISO RGD:1314879 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:28492532 9015673 Ccdc122 coiled-coil domain containing 122 gene DOID:1024 leprosy ISO RGD:1602063 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 PMID:25741868 9015673 Ccdc122 coiled-coil domain containing 122 gene DOID:630 genetic disease ISO RGD:1602063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015673 Ccdc122 coiled-coil domain containing 122 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1602063 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: JUVENILE ARTHRITIS PMID:25741868 9015695 Apela apelin receptor early endogenous ligand gene DOID:10591 pre-eclampsia ISO RGD:1624719 D RGD:9068941 20220825 MouseDO OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0050827 rheumatic heart disease ISO RGD:61817 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0070303 multiple epiphyseal dysplasia 1 ISO RGD:734049 D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 PMID:25741868 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080010 bone structure disease ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal bone structure | ClinVar Annotator: match by term: Abnormality of bone mineral density PMID:25741868 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080162 lupus nephritis ISO RGD:62109 D RGD:9068941 20200609 RGD associated with Graft vs Host Disease PMID:7700025|REF_RGD_ID:5688333 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080162 lupus nephritis ISO RGD:62109 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney cortex PMID:7723234|REF_RGD_ID:5688332 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080162 lupus nephritis ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:21354048|REF_RGD_ID:5688301 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:17241878|REF_RGD_ID:2308807 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:23703580|REF_RGD_ID:8552713 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ameliorates ISO RGD:62109 D RGD:9068941 20210702 RGD PMID:28100771|REF_RGD_ID:127285675 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:734049 D RGD:7240710 20180130 OMIM 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 ISO RGD:734049 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: EDS VII, MUTANT PROCOLLAGEN TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30665703|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 PMID:18311573|PMID:21667357|PMID:22206639|PMID:25741868|PMID:25944380|PMID:26627451|PMID:28492532|PMID:32581362|PMID:7942841|PMID:9295084|PMID:9443882 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19550437|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26633542|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:32166892|PMID:32235935|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19550437|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:22855962|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29695797|PMID:29946973|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:31584903|PMID:32166892|PMID:32235935|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:32235935|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type ISO RGD:734049 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18409203|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:27011056|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30665703|PMID:30692697|PMID:30715774|PMID:3082886|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:32235935|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0081333 Wiedemann-Rautenstrauch syndrome ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome PMID:16786509|PMID:28492532|PMID:29101475|PMID:30450527 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:25106685|PMID:28492532 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:7240710 20181017 OMIM 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15235039|PMID:15241796|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16638323|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:21239989|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23529829|PMID:23587214|PMID:23692737|PMID:24088041|PMID:24147872|PMID:24273577|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26138843|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28166811|PMID:28173822|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29669177|PMID:29807018|PMID:29946973|PMID:3016737|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31737030|PMID:31994750|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32860008|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8349697|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16638323|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:21239989|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23692737|PMID:24088041|PMID:24147872|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32860008|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16638323|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:21239989|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23692737|PMID:24088041|PMID:24147872|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32860008|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28173822|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28991257|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31447884|PMID:31584903|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32860008|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17206620|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28116328|PMID:28173822|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28991257|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30266093|PMID:30614853|PMID:30675999|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:1460046|PMID:15024692|PMID:15024745|PMID:15046069|PMID:15106082|PMID:15235039|PMID:15241796|PMID:15502558|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:1895312|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:21884818|PMID:22206639|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:23929220|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24273577|PMID:24311407|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25633413|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26371943|PMID:26402641|PMID:26467025|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:26799614|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27577215|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28173822|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29101475|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29502568|PMID:29543232|PMID:29552444|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:3016737|PMID:30266093|PMID:30450527|PMID:30614853|PMID:30675999|PMID:30684648|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:33070251|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456806|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:1460046|PMID:15024692|PMID:15024745|PMID:15046069|PMID:15106082|PMID:15235039|PMID:15241796|PMID:15502558|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:1895312|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:21884818|PMID:22206639|PMID:2238087|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:23929220|PMID:23949819|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24273577|PMID:24311407|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25633413|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26138843|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26371943|PMID:26402641|PMID:26467025|PMID:26478226|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:26799614|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27577215|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28173822|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29101475|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29502568|PMID:29543232|PMID:29552444|PMID:29595812|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30131598|PMID:3016737|PMID:30266093|PMID:30450527|PMID:30614853|PMID:30675999|PMID:30684648|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31299979|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:31994750|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:32981126|PMID:33070251|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34007986|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456806|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8757037|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:734049 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:10408781|PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:11826020|PMID:12362985|PMID:12590186|PMID:1445258|PMID:1460046|PMID:15024692|PMID:15024745|PMID:15046069|PMID:15106082|PMID:15235039|PMID:15241796|PMID:15502558|PMID:15728585|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16638323|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:1770532|PMID:17875077|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:1867198|PMID:18704262|PMID:18798308|PMID:18845533|PMID:1895312|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19637253|PMID:19751715|PMID:1988452|PMID:2035536|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21239989|PMID:21249479|PMID:21344539|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:21884818|PMID:22206639|PMID:2238087|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2295701|PMID:23054245|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:23929220|PMID:23949819|PMID:24088041|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24273577|PMID:24311407|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:24891183|PMID:25086671|PMID:25146735|PMID:25324685|PMID:2542316|PMID:25436829|PMID:25525159|PMID:25597651|PMID:25633413|PMID:25640679|PMID:25696019|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:25983617|PMID:26138843|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26264579|PMID:26371943|PMID:26402641|PMID:26432670|PMID:26467025|PMID:26478226|PMID:26604951|PMID:26627451|PMID:26633542|PMID:26633545|PMID:26712438|PMID:26799614|PMID:26863094|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27335225|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27577215|PMID:2767050|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28173822|PMID:28252636|PMID:28326186|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28528406|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29101475|PMID:29150909|PMID:29432813|PMID:29499418|PMID:29502568|PMID:29543232|PMID:29552444|PMID:29595812|PMID:29620724|PMID:29669177|PMID:29695797|PMID:29807018|PMID:29946973|PMID:30131598|PMID:3016737|PMID:30266093|PMID:30450527|PMID:30567240|PMID:30614853|PMID:30665703|PMID:30675999|PMID:30684648|PMID:30692697|PMID:30715774|PMID:3082886|PMID:30886339|PMID:31055083|PMID:31218168|PMID:31236376|PMID:31239369|PMID:31299979|PMID:31304589|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:31994750|PMID:32123938|PMID:32166892|PMID:32214361|PMID:32235935|PMID:32581362|PMID:32595695|PMID:32627857|PMID:32667677|PMID:32860008|PMID:32981126|PMID:33070251|PMID:33110269|PMID:33195954|PMID:33228694|PMID:33470886|PMID:33928192|PMID:33939306|PMID:34007986|PMID:34008892|PMID:3403550|PMID:34091789|PMID:34249109|PMID:34394176|PMID:34422331|PMID:34426522|PMID:34529350|PMID:34902613|PMID:34906519|PMID:34964960|PMID:35119775|PMID:35128800|PMID:35154279|PMID:35252483|PMID:35723357|PMID:35918752|PMID:36951356|PMID:37270749|PMID:6462220|PMID:7487936|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456806|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8723681|PMID:8757037|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:734049 D RGD:7240710 20180130 OMIM 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:734049 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III | ClinVar Annotator: match by term: Osteogenesis imperfecta, type III/IV PMID:10408781|PMID:10739762|PMID:10931857|PMID:11113887|PMID:11286507|PMID:11317364|PMID:12362985|PMID:12590186|PMID:1445258|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16705691|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:1770532|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18798308|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19637253|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24390061|PMID:24486247|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:2511192|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29807018|PMID:30131598|PMID:30614853|PMID:30675999|PMID:30684648|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:32166892|PMID:32627857|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34007986|PMID:7691343|PMID:7695699|PMID:7789952|PMID:7942841|PMID:8094076|PMID:8125479|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8723681|PMID:8786074|PMID:8808594|PMID:8910493|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098|PMID:9600458 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:734049 D RGD:7240710 20180130 OMIM 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110340 osteogenesis imperfecta type 4 ISO RGD:734049 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: OI type IV | ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV | ClinVar Annotator: match by term: Osteogenesis imperfecta type 4 PMID:10417276|PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:1718984|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21488280|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23529829|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:2745420|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29595812|PMID:29807018|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31680973|PMID:31737030|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:36951356|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8456809|PMID:8613526|PMID:8669434|PMID:8786074|PMID:8808594|PMID:9007315|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:734049 D RGD:7240710 20180130 OMIM 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0110341 osteogenesis imperfecta type 2 ISO RGD:734049 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2A | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:1511982|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:1613761|PMID:16199547|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:1864604|PMID:18704262|PMID:1874719|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:20301472|PMID:2035536|PMID:2037280|PMID:20981092|PMID:2121988|PMID:21239989|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21834035|PMID:22206639|PMID:2220807|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:2298750|PMID:2309707|PMID:23265383|PMID:2339700|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24767406|PMID:2500431|PMID:25086671|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26264579|PMID:26467025|PMID:26627451|PMID:26863094|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28528406|PMID:28725987|PMID:28810924|PMID:2894346|PMID:2913053|PMID:29432813|PMID:29499418|PMID:29595812|PMID:3016737|PMID:30266093|PMID:30311386|PMID:30614853|PMID:30692697|PMID:30715774|PMID:3108247|PMID:31239369|PMID:31304589|PMID:31349857|PMID:31447884|PMID:3198624|PMID:32166892|PMID:32860008|PMID:33228694|PMID:33928192|PMID:33939306|PMID:3403550|PMID:3667599|PMID:3722184|PMID:6702894|PMID:7695699|PMID:7816518|PMID:7881420|PMID:7942841|PMID:8097422|PMID:8100209|PMID:8100856|PMID:8218237|PMID:8364588|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:8950680|PMID:9016532|PMID:9067755|PMID:9143923|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:0111565 trichodontoosseous syndrome ISO RGD:734049 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:10126 keratoconus ISO RGD:734049 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:21667357|PMID:25741868|PMID:27519266|PMID:28492532|PMID:30715774 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:10283 prostate cancer ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:17211858|PMID:23265383|PMID:25741868|PMID:28492532 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:1067 open-angle glaucoma ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:15161848|REF_RGD_ID:8552673 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:10763 hypertension ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11682445 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:11088 asphyxia neonatorum ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asphyxia neonatorum PMID:25741868|PMID:8364588 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:7240710 20180130 OMIM 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL PMID:10931857|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:17309652|PMID:18412368|PMID:18553566|PMID:18704262|PMID:19344236|PMID:2037280|PMID:21249479|PMID:21567126|PMID:21667357|PMID:22589248|PMID:22855962|PMID:24390061|PMID:25086671|PMID:2542316|PMID:25741868|PMID:25944380|PMID:26177859|PMID:26467025|PMID:27132807|PMID:27509835|PMID:27519266|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28810924|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24767406|PMID:25086671|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27519266|PMID:27748872|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:10739762|PMID:10931857|PMID:11113887|PMID:11317364|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:2037280|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24390061|PMID:24767406|PMID:25086671|PMID:2542316|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:26627451|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27748872|PMID:28102596|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:11476 osteoporosis susceptibility ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:g.2046G>T (human) PMID:23137636|REF_RGD_ID:10045665 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:11664 nephrosclerosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:11830 myopia ISO RGD:62109 D RGD:9068941 20200609 RGD mRNA:decreased expression:sclera (mouse) PMID:22690110|REF_RGD_ID:8552656 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:1184 nephrotic syndrome ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1281619 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:734049 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21667357|PMID:25741868|PMID:27519266|PMID:28492532|PMID:30715774 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12185 otosclerosis susceptibility ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:multiple (human) PMID:17489845|REF_RGD_ID:8552658 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12236 primary biliary cholangitis treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:20056896|REF_RGD_ID:8552731 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12241 beta thalassemia ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP PMID:12803121|REF_RGD_ID:11041179 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19550437|PMID:19751715|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:22753364|PMID:23443412|PMID:23587214|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28166811|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17309652|PMID:17392686|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19550437|PMID:19751715|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22589248|PMID:22753364|PMID:23443412|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31319225|PMID:31363794|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16705691|PMID:16786509|PMID:16879195|PMID:17078022|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23443412|PMID:23692737|PMID:24147872|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31319225|PMID:31363794|PMID:32166892|PMID:32235935|PMID:32581362|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:32166892|PMID:32235935|PMID:32581362|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:11826020|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:2238087|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31299979|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32981126|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:11826020|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:2238087|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31299979|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:32123938|PMID:32166892|PMID:32235935|PMID:32581362|PMID:32981126|PMID:33110269|PMID:33195954|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:11826020|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:2238087|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30665703|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31299979|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:32123938|PMID:32166892|PMID:32214361|PMID:32235935|PMID:32581362|PMID:32981126|PMID:33110269|PMID:33195954|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35918752|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta ISO RGD:734049 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:1137656|PMID:11432962|PMID:11704682|PMID:11826020|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15106082|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:1634225|PMID:16474405|PMID:16705691|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:1718984|PMID:17206620|PMID:17211858|PMID:17309652|PMID:1737847|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18311573|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18845533|PMID:18996919|PMID:19199251|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:19751715|PMID:20301472|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21520333|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:2238087|PMID:22565191|PMID:22570641|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23079818|PMID:23265383|PMID:23443412|PMID:23529829|PMID:23587214|PMID:23692737|PMID:23729740|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24501682|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25742658|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27059743|PMID:27060301|PMID:27090748|PMID:2709835|PMID:27132807|PMID:27146342|PMID:27380894|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:28748566|PMID:28810924|PMID:28817112|PMID:28991257|PMID:29150909|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30665703|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31299979|PMID:31304589|PMID:31319225|PMID:31363794|PMID:31414283|PMID:31429852|PMID:31447884|PMID:31584903|PMID:31680973|PMID:31737030|PMID:32123938|PMID:32166892|PMID:32214361|PMID:32235935|PMID:32581362|PMID:32981126|PMID:33110269|PMID:33195954|PMID:33228694|PMID:33928192|PMID:33939306|PMID:34091789|PMID:34249109|PMID:34422331|PMID:34426522|PMID:35252483|PMID:35909573|PMID:35918752|PMID:36951356|PMID:3722186|PMID:7691343|PMID:7695699|PMID:7881420|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8799376|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9101304|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta severity ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:mutation:exon:c.3235G>A(p.G1079S)(human) PMID:23079818|REF_RGD_ID:11571620 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12347 osteogenesis imperfecta treatment ISO RGD:62109 D RGD:9068941 20230622 RGD PMID:31419601|REF_RGD_ID:329853752 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12351 alcoholic hepatitis ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:1670041|REF_RGD_ID:5688335 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:12930 dilated cardiomyopathy ISO RGD:734049 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:734049 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:10739762|PMID:11090261|PMID:11317364|PMID:11432962|PMID:15741671|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18996919|PMID:19344236|PMID:19550437|PMID:19751715|PMID:20696291|PMID:21594610|PMID:21667357|PMID:21884818|PMID:2238087|PMID:22753364|PMID:23265383|PMID:23587214|PMID:24147872|PMID:24668929|PMID:25146735|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26633542|PMID:27011056|PMID:27380894|PMID:27510842|PMID:27519266|PMID:28102596|PMID:28492532|PMID:28748566|PMID:29543232|PMID:29946973|PMID:30665703|PMID:30715774|PMID:30886339|PMID:31299979|PMID:31584903|PMID:32166892|PMID:32981126|PMID:33939306|PMID:34422331|PMID:34426522|PMID:35128800|PMID:7691343|PMID:7695699|PMID:8079666|PMID:8218237|PMID:8456808|PMID:8799376|PMID:9016532|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:13580 cholestasis ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22824087|REF_RGD_ID:8552776 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:13580 cholestasis ISO RGD:62109 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:22094456|REF_RGD_ID:8552675 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:13580 cholestasis treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:21274875|REF_RGD_ID:8552699 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:13619 extrahepatic cholestasis ISO RGD:734049 D RGD:9068941 20210910 CTD CTD Direct Evidence: marker/mechanism PMID:28789951|PMID:31932644 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:13948 bladder neck obstruction treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:23313213|REF_RGD_ID:7257549 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16786509|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29543232 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:14004 thoracic aortic aneurysm ISO RGD:734049 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16786509|PMID:25741868|PMID:28492532|PMID:29543232|PMID:30665703|PMID:31584903 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10739762|PMID:17211858|PMID:23587214|PMID:25597651|PMID:25741868|PMID:28102596|PMID:28492532 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734049 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:10739762|PMID:25741868|PMID:28492532 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:734049 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:10739762|PMID:16786509|PMID:17211858|PMID:23587214|PMID:25597651|PMID:25741868|PMID:28102596|PMID:28492532 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:1474 aggressive periodontitis ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP PMID:15081423|REF_RGD_ID:5688299 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:1682 congenital heart disease ISO RGD:734049 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:28492532 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:182 calcinosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:2213 hemorrhagic disease ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:2256 osteochondrodysplasia ISO RGD:734049 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868|PMID:8364588 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:2377 multiple sclerosis ISO RGD:734049 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:20456365|REF_RGD_ID:5688302 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:15469929|REF_RGD_ID:5131854 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:gene fusion:exon PMID:12641779|REF_RGD_ID:2292195 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:3507 dermatofibrosarcoma protuberans ISO RGD:734049 D RGD:9068941 20200609 RGD associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion PMID:22153773|REF_RGD_ID:5688300 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:3770 pulmonary fibrosis ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:7511187|REF_RGD_ID:7257543 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:3770 pulmonary fibrosis ISO RGD:62109 D RGD:9068941 20200619 RGD associated with Middle East respiratory syndrome; PMID:31838832|REF_RGD_ID:30309204 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:3770 pulmonary fibrosis treatment ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:17579094|REF_RGD_ID:11041177 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:4079 heart valve disease ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:4154 dentinogenesis imperfecta ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dentinogenesis imperfecta PMID:17078022|PMID:19344236|PMID:24668929|PMID:25741868|PMID:25944380|PMID:27509835|PMID:28492532|PMID:29807018|PMID:7691343|PMID:7695699|PMID:8218237|PMID:9016532 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:417 autoimmune disease ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:418 systemic scleroderma ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:1697606|REF_RGD_ID:5688336 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:4257 Caffey disease ISO RGD:734049 D RGD:7240710 20180130 OMIM 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:4257 Caffey disease ISO RGD:734049 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:10739762|PMID:10931857|PMID:11090261|PMID:11113887|PMID:11317364|PMID:11432962|PMID:12362985|PMID:12590186|PMID:15024692|PMID:15024745|PMID:15241796|PMID:15741671|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:17078022|PMID:17211858|PMID:17309652|PMID:17392686|PMID:17576681|PMID:18028452|PMID:18272325|PMID:18412368|PMID:18553566|PMID:18670065|PMID:18704262|PMID:18996919|PMID:19344236|PMID:19358256|PMID:19491628|PMID:19550437|PMID:2037280|PMID:20696291|PMID:20981092|PMID:21249479|PMID:21567126|PMID:21594610|PMID:21667357|PMID:21884818|PMID:22206639|PMID:22589248|PMID:22753364|PMID:22855962|PMID:23265383|PMID:23443412|PMID:23587214|PMID:23692737|PMID:24123366|PMID:24147872|PMID:24185511|PMID:24390061|PMID:24668929|PMID:24767406|PMID:25086671|PMID:25146735|PMID:2542316|PMID:25525159|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26188975|PMID:26235824|PMID:26467025|PMID:26627451|PMID:26633542|PMID:26712438|PMID:27011056|PMID:27044453|PMID:27060301|PMID:27132807|PMID:27146342|PMID:27484908|PMID:27509835|PMID:27510842|PMID:27519266|PMID:27549894|PMID:27748872|PMID:2794057|PMID:28102596|PMID:28116328|PMID:28378289|PMID:28492532|PMID:28725987|PMID:28810924|PMID:29499418|PMID:29543232|PMID:29595812|PMID:29695797|PMID:29946973|PMID:30614853|PMID:30665703|PMID:30692697|PMID:30715774|PMID:30886339|PMID:31304589|PMID:31447884|PMID:31584903|PMID:32166892|PMID:33110269|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7691343|PMID:7695699|PMID:7942841|PMID:8079666|PMID:8218237|PMID:8408653|PMID:8456808|PMID:8613526|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:5082 liver cirrhosis ISO RGD:734049 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:21863215|PMID:24239723|PMID:24321339|PMID:26396155|PMID:32659284 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:5199 ureteral obstruction ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:20660018|REF_RGD_ID:5688341 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:57 aortic valve insufficiency ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:5773 oral submucous fibrosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16311067 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:5844 myocardial infarction treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:25636075|REF_RGD_ID:11041598 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:630 genetic disease ISO RGD:734049 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17078022|PMID:19011090|PMID:25741868|PMID:27509835|PMID:28492532|PMID:7695699|PMID:9016532|PMID:9724608 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:6432 pulmonary hypertension treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:25867313|REF_RGD_ID:11041577 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:65 connective tissue disease ISO RGD:734049 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:15741671|PMID:16474405|PMID:16773572|PMID:16786509|PMID:16879195|PMID:17056636|PMID:18028452|PMID:18272325|PMID:19550437|PMID:20696291|PMID:21594610|PMID:25146735|PMID:25525159|PMID:25741868|PMID:25963598|PMID:26188975|PMID:26235824|PMID:26467025|PMID:27380894|PMID:28492532|PMID:28748566|PMID:29543232|PMID:29946973|PMID:31584903|PMID:8079666|PMID:8456808 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:783 end stage renal disease ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:25782334|REF_RGD_ID:11041185 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:820 myocarditis treatment ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:19246678|REF_RGD_ID:7241803 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:8398 osteoarthritis no_association ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1 PMID:10743824|REF_RGD_ID:5688331 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:8577 ulcerative colitis ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:17939044|REF_RGD_ID:5688304 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:90 degenerative disc disease ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP: :rs2075555 (human) PMID:19180518|REF_RGD_ID:5688293 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9000058 Keloid ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15994869|REF_RGD_ID:5688297 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9000585 Intervertebral Disc Disease no_association ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:insertion PMID:18694864|REF_RGD_ID:5688295 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9000784 Fibrosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388698 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:20818932|REF_RGD_ID:5688339 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (rat) PMID:23958495|REF_RGD_ID:8552710 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:61817 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16009107|REF_RGD_ID:1601595 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136|PMID:26435214|PMID:26739621 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:61817 D RGD:9068941 20220331 RGD PMID:22706148|PMID:30346985|REF_RGD_ID:151665755|REF_RGD_ID:8552768 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9002130 Bisphosphonate-Associated Osteonecrosis of the Jaw treatment ISO RGD:734049 D RGD:9068941 20200609 RGD associated with Multiple Myeloma PMID:21396799|REF_RGD_ID:11041182 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9002165 Diabetic Nephropathies ISO RGD:61817 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus (rat) PMID:22903132|REF_RGD_ID:8552684 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9002189 High Myopia no_association ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:snps:5' utr, intron:g.-1482G>C, IVS11+80T>G (rs2269336, rs2075555) (human) PMID:18836165|REF_RGD_ID:8552655 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9002189 High Myopia susceptibility ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:snps:5' utr, intron:g.-2116T>G, g.-1482G>C, IVS11+80T>G (rs1107946, rs2269336, rs2075555) (human) PMID:17557158|REF_RGD_ID:8552654 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9002278 Metabolic Bone Diseases ISO RGD:734049 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Osteopenia PMID:16199547|PMID:25741868|PMID:28492532|PMID:31447884|PMID:7942841|PMID:8364588|PMID:9295084|PMID:9443882 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9002369 osteogenesis imperfecta type 2C ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC PMID:1613761 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9002589 Bone Fractures ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent fractures PMID:25741868 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9003133 Hypertelorism ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868|PMID:8364588 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9003139 Cardiac Fibrosis ISO RGD:61817 D RGD:9068941 20200609 RGD associated with Hypertension;mRNA:increased expression:heart PMID:21769867|REF_RGD_ID:5688337 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9003139 Cardiac Fibrosis ISO RGD:61817 D RGD:9068941 20230225 RGD protein:increased expression:blood serum (rat) PMID:27318893|REF_RGD_ID:156430318 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:19019833|REF_RGD_ID:8552780 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9003234 Hypertensive Nephropathy ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA:increased expression:juxtamedullary cortex (rat) PMID:17977875|REF_RGD_ID:2290351 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9003507 Premature Birth ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868|PMID:8364588 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9003611 Trachomatous Trichiasis ISO RGD:734049 D RGD:9068941 20200609 RGD mRNA:decreased expression:tarsal conjunctiva (human) PMID:20375326|REF_RGD_ID:8552676 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9004303 Tubulointerstitial Fibrosis ameliorates ISO RGD:62109 D RGD:9068941 20230921 RGD PMID:32065356|REF_RGD_ID:401824679 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:25128628|REF_RGD_ID:11041187 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181017 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:61817 D RGD:9068941 20230202 RGD associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat) PMID:23977013|REF_RGD_ID:155882570 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:10931857|PMID:12590186|PMID:15024692|PMID:15241796|PMID:15864348|PMID:15931785|PMID:16199547|PMID:16879195|PMID:17078022|PMID:17309652|PMID:18412368|PMID:18553566|PMID:18704262|PMID:19344236|PMID:19358256|PMID:2037280|PMID:21249479|PMID:21567126|PMID:21667357|PMID:22589248|PMID:22753364|PMID:22855962|PMID:24390061|PMID:25086671|PMID:2542316|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26177859|PMID:26467025|PMID:27509835|PMID:27510842|PMID:27519266|PMID:28378289|PMID:28492532|PMID:28810924|PMID:31447884|PMID:32166892|PMID:33228694|PMID:33928192|PMID:33939306|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8408653|PMID:8669434|PMID:8808594|PMID:9016532|PMID:9067755|PMID:9295084|PMID:9443882 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9005077 Joint Instability ISO RGD:734049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10739762|PMID:17211858|PMID:23587214|PMID:25597651|PMID:25741868|PMID:28102596|PMID:28492532 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9005603 Muscle Hypotonia ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:8364588 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9005605 Arteriovenous Fistula ISO RGD:61817 D RGD:9068941 20200609 RGD in Long Evans rats;mRNA:increased expression:aorta PMID:16428894|REF_RGD_ID:8552771 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9005827 Spontaneous Fractures ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pathologic fracture PMID:25741868|PMID:8364588 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:17187661|REF_RGD_ID:5688305 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip no_association ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.2046G>T (human) PMID:9811048|REF_RGD_ID:5688330 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9006041 Osteoarthritis, Hip susceptibility ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.2046G>T (human) PMID:15880349|REF_RGD_ID:5688306 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9006045 Dissecting Aneurysm ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8757037 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9006190 Chronic Pancreatitis treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:21926544|REF_RGD_ID:8552779 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:62109 D RGD:9068941 20230601 RGD PMID:24920753|REF_RGD_ID:329845564 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9006325 Ventral Hernia treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:26578432|REF_RGD_ID:11041579 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9006782 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 ISO RGD:734049 D RGD:7240710 20201223 OMIM 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9006782 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 ISO RGD:734049 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 PMID:10739762|PMID:11113887|PMID:11317364|PMID:12362985|PMID:15024745|PMID:15241796|PMID:15728585|PMID:15741671|PMID:16199547|PMID:16407265|PMID:17078022|PMID:17206620|PMID:17211858|PMID:17392686|PMID:17576681|PMID:18272325|PMID:18996919|PMID:19344236|PMID:19491628|PMID:20981092|PMID:21594610|PMID:21667357|PMID:22206639|PMID:22565191|PMID:23265383|PMID:23587214|PMID:23692737|PMID:24767406|PMID:25597651|PMID:25741868|PMID:25944380|PMID:25963598|PMID:26467025|PMID:26627451|PMID:26799614|PMID:27044453|PMID:27132807|PMID:27146342|PMID:27509835|PMID:27510842|PMID:27748872|PMID:28102596|PMID:28436160|PMID:28492532|PMID:28498836|PMID:28725987|PMID:29499418|PMID:29595812|PMID:30614853|PMID:30692697|PMID:30715774|PMID:31304589|PMID:31447884|PMID:7695699|PMID:7942841|PMID:8218237|PMID:8456808|PMID:8613526|PMID:8808594|PMID:9016532|PMID:9295084|PMID:9443882|PMID:9536098 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9006827 Lung Reperfusion Injury ISO RGD:62109 D RGD:9068941 20220915 RGD mRNA:increased expression:lung (mouse) PMID:34238924|REF_RGD_ID:153350155 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9006836 Contracture treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:26097527|REF_RGD_ID:11041578 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9007329 Human Viral Hepatitis ISO RGD:734049 D RGD:9068941 20200609 RGD PMID:1670041|REF_RGD_ID:5688335 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9007889 Nephrogenic Fibrosing Dermopathy ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20570839 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9008331 Tendon Injuries treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:20479531|REF_RGD_ID:8552700 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9008462 Lipodermatosclerosis ISO RGD:734049 D RGD:9068941 20200609 RGD mRNA:increased expression:dermis PMID:15727634|REF_RGD_ID:5688298 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9008763 Femoral Fractures treatment ISO RGD:61817 D RGD:9068941 20200609 RGD PMID:12412812|REF_RGD_ID:8552709 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9111 cutaneous leishmaniasis ISO RGD:734049 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1061237, rs2586488 (human) PMID:25562121|REF_RGD_ID:11041176 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:916 liver benign neoplasm onset ISO RGD:61817 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:21295105|REF_RGD_ID:5130894 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9281 phenylketonuria ISO RGD:734049 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25741868 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9282 ocular hypertension ISO RGD:62109 D RGD:9068941 20200609 RGD PMID:19797236|REF_RGD_ID:8552669 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9446 cholangitis ISO RGD:734049 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 9015700 Col1a1 collagen type I alpha 1 chain gene DOID:9970 obesity ISO RGD:61817 D RGD:9068941 20240208 RGD mRNA:increased expression:kidney (rat) PMID:28746409|REF_RGD_ID:401965413 9015758 Rfxap regulatory factor X associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1348538 D RGD:7240710 20180207 OMIM 9015758 Rfxap regulatory factor X associated protein gene DOID:5812 MHC class II deficiency ISO RGD:1348538 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bare Lymphocyte Syndrome, Type II, Complementation Group D | ClinVar Annotator: match by term: MHC class II deficiency PMID:12498778|PMID:17576681|PMID:20197681|PMID:22390233|PMID:25741868|PMID:28492532|PMID:31589614|PMID:650344|PMID:7021490|PMID:9118943|PMID:9287230|PMID:9536098 9015758 Rfxap regulatory factor X associated protein gene DOID:630 genetic disease ISO RGD:1348538 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9015771 Emc3 ER membrane protein complex subunit 3 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 9015771 Emc3 ER membrane protein complex subunit 3 gene DOID:630 genetic disease ISO RGD:1601753 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015771 Emc3 ER membrane protein complex subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9015771 Emc3 ER membrane protein complex subunit 3 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 9015771 Emc3 ER membrane protein complex subunit 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1601753 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 9015783 Sez6 seizure related 6 homolog gene DOID:630 genetic disease ISO RGD:1320435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015783 Sez6 seizure related 6 homolog gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320435 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9015783 Sez6 seizure related 6 homolog gene DOID:9007491 Childhood Schizophrenia ISO RGD:1320435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 9015813 Pth2 parathyroid hormone 2 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1601727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 9015813 Pth2 parathyroid hormone 2 gene DOID:630 genetic disease ISO RGD:1601727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015824 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:0014667 disease of metabolism ISO RGD:1354191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17050691 9015824 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1354191 D RGD:7240710 20180130 OMIM 9015824 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1354191 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glutaric acidemia iic, late-onset | ClinVar Annotator: match by term: Glutaric acidemia type 2C | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12359134|PMID:12815589|PMID:15662686|PMID:15669683|PMID:16199547|PMID:16434667|PMID:16510302|PMID:17060596|PMID:17412732|PMID:17576681|PMID:17584774|PMID:17977044|PMID:18289905|PMID:19249206|PMID:19265687|PMID:19758981|PMID:20023066|PMID:20138856|PMID:20370797|PMID:20837308|PMID:21088898|PMID:21347544|PMID:21907580|PMID:22013910|PMID:22041377|PMID:22611163|PMID:22664151|PMID:23106979|PMID:23628458|PMID:23700290|PMID:23727839|PMID:23785301|PMID:24190796|PMID:24357026|PMID:24516753|PMID:24522293|PMID:25119904|PMID:25200064|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25827849|PMID:25913573|PMID:26349199|PMID:26403312|PMID:26409463|PMID:27000805|PMID:27038534|PMID:27060313|PMID:27270537|PMID:27935074|PMID:28083701|PMID:28388738|PMID:28456887|PMID:28468868|PMID:28492532|PMID:28685490|PMID:28899466|PMID:28914566|PMID:28973083|PMID:29249369|PMID:29336361|PMID:29339009|PMID:29376578|PMID:29961769|PMID:29988809|PMID:30022752|PMID:30027710|PMID:30232818|PMID:30424791|PMID:30477628|PMID:30587156|PMID:30626930|PMID:30681493|PMID:30904546|PMID:3126856|PMID:31268564|PMID:31306230|PMID:31331668|PMID:31418342|PMID:31904027|PMID:31997039|PMID:32007756|PMID:32064983|PMID:32393189|PMID:32733732|PMID:32746448|PMID:32778825|PMID:32793418|PMID:32804429|PMID:32925727|PMID:33000234|PMID:33383363|PMID:33473335|PMID:33589341|PMID:33823724|PMID:34041209|PMID:34066864|PMID:34573316|PMID:34704421|PMID:34819910|PMID:35090233|PMID:35309592|PMID:35314173|PMID:7173260|PMID:7757062|PMID:9536098 9015824 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:11372 megacolon ISO RGD:1354191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9015824 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1354191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 9015824 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:12377 spinal muscular atrophy ISO RGD:1354191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 9015824 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:423 myopathy ISO RGD:1354191 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868 9015824 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:630 genetic disease ISO RGD:1354191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12359134|PMID:15669683|PMID:16434667|PMID:17412732|PMID:17576681|PMID:22611163|PMID:25741868|PMID:28492532|PMID:29339009|PMID:29376578|PMID:31331668|PMID:32925727|PMID:9536098 9015824 Etfdh electron transfer flavoprotein dehydrogenase gene DOID:9970 obesity ISO RGD:1354191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 9015848 Efna5 ephrin A5 gene DOID:0060668 anencephaly ISO RGD:732052 D RGD:9068941 20220825 MouseDO OMIM:206500 9015848 Efna5 ephrin A5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9015848 Efna5 ephrin A5 gene DOID:0080600 COVID-19 ISO RGD:1350398 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9015848 Efna5 ephrin A5 gene DOID:630 genetic disease ISO RGD:1350398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015848 Efna5 ephrin A5 gene DOID:9004009 Reperfusion Injury ISO RGD:1350398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16526316 9015848 Efna5 ephrin A5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9015848 Efna5 ephrin A5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9015858 Aebp1 AE binding protein 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1315812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9015858 Aebp1 AE binding protein 1 gene DOID:0080732 Ehlers-Danlos syndrome classic-like 2 ISO RGD:1315812 D RGD:7240710 20190315 OMIM 9015858 Aebp1 AE binding protein 1 gene DOID:0080732 Ehlers-Danlos syndrome classic-like 2 ISO RGD:1315812 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2 PMID:16199547|PMID:25741868|PMID:27023906|PMID:28492532|PMID:29606302|PMID:30548383|PMID:33144682 9015858 Aebp1 AE binding protein 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1315812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:25741868|PMID:30759870 9015858 Aebp1 AE binding protein 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9015858 Aebp1 AE binding protein 1 gene DOID:630 genetic disease ISO RGD:1315812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9015858 Aebp1 AE binding protein 1 gene DOID:9002189 High Myopia ISO RGD:1315812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 9015898 Serpind1 serpin family D member 1 gene DOID:0050117 disease by infectious agent ISO RGD:732320 D RGD:9068941 20200609 RGD associated with Disseminated Intravascular Coagulation;protein:decreased expression:plasma (human) PMID:12361205|REF_RGD_ID:1580300 9015898 Serpind1 serpin family D member 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:732320 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 9015898 Serpind1 serpin family D member 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:732320 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 9015898 Serpind1 serpin family D member 1 gene DOID:0060903 thrombosis ISO RGD:732320 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 9015898 Serpind1 serpin family D member 1 gene DOID:0111901 heparin cofactor II deficiency ISO RGD:732320 D RGD:7240710 20180130 OMIM 9015898 Serpind1 serpin family D member 1 gene DOID:0111901 heparin cofactor II deficiency ISO RGD:732320 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Heparin cofactor II deficiency | ClinVar Annotator: match by term: Thrombotic stroke PMID:11204559|PMID:25741868|PMID:2647747|PMID:28492532|PMID:31064749|PMID:34355501|PMID:8562924|PMID:8902986 9015898 Serpind1 serpin family D member 1 gene DOID:1059 intellectual disability ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9015898 Serpind1 serpin family D member 1 gene DOID:11198 DiGeorge syndrome ISO RGD:732320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 9015898 Serpind1 serpin family D member 1 gene DOID:11372 megacolon ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9015898 Serpind1 serpin family D member 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:732320 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 9015898 Serpind1 serpin family D member 1 gene DOID:12849 autistic disorder ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9015898 Serpind1 serpin family D member 1 gene DOID:13252 mesenteric vascular occlusion ISO RGD:732320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1831893 9015898 Serpind1 serpin family D member 1 gene DOID:1826 epilepsy ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9015898 Serpind1 serpin family D member 1 gene DOID:2213 hemorrhagic disease ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749 9015898 Serpind1 serpin family D member 1 gene DOID:2452 thrombophilia ISO RGD:732320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2214444 9015898 Serpind1 serpin family D member 1 gene DOID:3410 carotid artery thrombosis ISO RGD:732320 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11805133 9015898 Serpind1 serpin family D member 1 gene DOID:5419 schizophrenia ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9015898 Serpind1 serpin family D member 1 gene DOID:612 primary immunodeficiency disease ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 9015898 Serpind1 serpin family D member 1 gene DOID:630 genetic disease ISO RGD:732320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015898 Serpind1 serpin family D member 1 gene DOID:9003505 Venous Thromboembolism ISO RGD:732320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1831893 9015898 Serpind1 serpin family D member 1 gene DOID:9003871 Venous Thrombosis ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:25741868|PMID:31064749 9015898 Serpind1 serpin family D member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9015898 Serpind1 serpin family D member 1 gene DOID:9008217 Hemorrhage ISO RGD:732320 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hemorrhage PMID:25741868 9015917 Rab27b RAB27B, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:732208 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9015917 Rab27b RAB27B, member RAS oncogene family gene DOID:11054 urinary bladder cancer ISO RGD:732208 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 9015917 Rab27b RAB27B, member RAS oncogene family gene DOID:2223 platelet storage pool deficiency ISO RGD:1553220 D RGD:9068941 20220825 MouseDO OMIM:185050 9015917 Rab27b RAB27B, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:732208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015917 Rab27b RAB27B, member RAS oncogene family gene DOID:9000918 Disease Progression ISO RGD:732208 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 9015917 Rab27b RAB27B, member RAS oncogene family gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732208 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:34291859 9015963 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency ISO RGD:1352586 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency PMID:11181649|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:17908719|PMID:17968484|PMID:19706617|PMID:20818363|PMID:20818383|PMID:21071250|PMID:22264772|PMID:22642865|PMID:25356967|PMID:25381946|PMID:25382614|PMID:25741868|PMID:26566957|PMID:26764160|PMID:27033733|PMID:27601257|PMID:27959697|PMID:28492532|PMID:29247206|PMID:30510438|PMID:30626930|PMID:31130284|PMID:31730530|PMID:31847883|PMID:32778825|PMID:34440436|PMID:34899149|PMID:35281663|PMID:36822454|PMID:9536098 9015963 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1352586 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11181649|PMID:22642865|PMID:25741868|PMID:28492532 9015963 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ISO RGD:1352586 D RGD:7240710 20180130 OMIM 9015963 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency ISO RGD:1352586 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency | ClinVar Annotator: match by term: Methylcrotonylglycinuria type 2 PMID:11170888|PMID:11181649|PMID:11406611|PMID:1293382|PMID:14680978|PMID:15877210|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:17908719|PMID:17968484|PMID:19706617|PMID:20818363|PMID:20818383|PMID:21071250|PMID:22030835|PMID:22150417|PMID:22264772|PMID:22642865|PMID:22658692|PMID:24516753|PMID:25356967|PMID:25381946|PMID:25382614|PMID:25640679|PMID:25741868|PMID:26566957|PMID:26589311|PMID:26764160|PMID:27033733|PMID:27601257|PMID:27959697|PMID:28018443|PMID:28492532|PMID:29247206|PMID:29767664|PMID:30510438|PMID:30626930|PMID:31130284|PMID:31730530|PMID:31847883|PMID:31901042|PMID:32778825|PMID:33423264|PMID:34440436|PMID:34899149|PMID:35281663|PMID:36822454|PMID:7128647|PMID:8598650|PMID:9536098|PMID:9544913 9015963 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:630 genetic disease ISO RGD:1352586 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11181649|PMID:17908719|PMID:21071250|PMID:22264772|PMID:22642865|PMID:25356967|PMID:25741868|PMID:26566957|PMID:27033733|PMID:27601257|PMID:27959697|PMID:28492532|PMID:29247206|PMID:30510438|PMID:30626930|PMID:31130284|PMID:31847883|PMID:32778825|PMID:34440436|PMID:34899149|PMID:35281663 9015963 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1352586 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations:multiple (human) PMID:11170888|REF_RGD_ID:2316864 9015963 Mccc2 methylcrotonyl-CoA carboxylase subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9015984 Ddx49 DEAD-box helicase 49 gene DOID:0111451 progressive myoclonus epilepsy 8 ISO RGD:1322415 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 PMID:28492532 9015984 Ddx49 DEAD-box helicase 49 gene DOID:630 genetic disease ISO RGD:1322415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9015984 Ddx49 DEAD-box helicase 49 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1322415 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 9016007 Sfxn1 sideroflexin 1 gene DOID:3910 lung adenocarcinoma ISO RGD:1318276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9016007 Sfxn1 sideroflexin 1 gene DOID:630 genetic disease ISO RGD:1318276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016007 Sfxn1 sideroflexin 1 gene DOID:9006205 Animal Disease Models ISO RGD:1318276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9016007 Sfxn1 sideroflexin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318276 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 9016022 Pak5 p21 (RAC1) activated kinase 5 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1323766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 9016022 Pak5 p21 (RAC1) activated kinase 5 gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1323766 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 9016022 Pak5 p21 (RAC1) activated kinase 5 gene DOID:630 genetic disease ISO RGD:1323766 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016022 Pak5 p21 (RAC1) activated kinase 5 gene DOID:9003698 ALAGILLE SYNDROME 1 ISO RGD:1323766 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532|PMID:32733715 9016049 Olfm3 olfactomedin 3 gene DOID:1826 epilepsy ISO RGD:735294 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9016049 Olfm3 olfactomedin 3 gene DOID:540 strabismus ISO RGD:735294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus, susceptibility to 9016049 Olfm3 olfactomedin 3 gene DOID:630 genetic disease ISO RGD:735294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016062 Sele selectin E gene DOID:0060224 atrial fibrillation ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17890461 9016062 Sele selectin E gene DOID:0080600 COVID-19 ISO RGD:736831 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 9016062 Sele selectin E gene DOID:0080600 COVID-19 severity ISO RGD:736831 D RGD:9068941 20200626 RGD mRNA,protein:increased expression:plasma (human) PMID:32458111|REF_RGD_ID:32716385 9016062 Sele selectin E gene DOID:1287 cardiovascular system disease ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16332659|PMID:16544732 9016062 Sele selectin E gene DOID:1540 parathyroid carcinoma ISO RGD:736831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9016062 Sele selectin E gene DOID:1555 urticaria ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121561 9016062 Sele selectin E gene DOID:2316 brain ischemia ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17394460 9016062 Sele selectin E gene DOID:2316 brain ischemia ISO RGD:736831 D RGD:9068941 20200609 RGD associated with Hypertension PMID:19107136|REF_RGD_ID:2313600 9016062 Sele selectin E gene DOID:2377 multiple sclerosis ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20175758 9016062 Sele selectin E gene DOID:2986 IgA glomerulonephritis ISO RGD:736831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: IgA nephropathy, susceptibility to PMID:11828340|PMID:16282702 9016062 Sele selectin E gene DOID:3042 allergic contact dermatitis ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17597826 9016062 Sele selectin E gene DOID:3310 atopic dermatitis ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12410700 9016062 Sele selectin E gene DOID:3393 coronary artery disease ISO RGD:736831 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Coronary artery disease PMID:25741868 9016062 Sele selectin E gene DOID:3393 coronary artery disease susceptibility ISO RGD:736831 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:mutation: :p.S128R (human) PMID:17578587|REF_RGD_ID:2313596 9016062 Sele selectin E gene DOID:630 genetic disease ISO RGD:736831 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016062 Sele selectin E gene DOID:6713 cerebrovascular disease ISO RGD:736831 D RGD:9068941 20200609 RGD DNA:polymorphism: :561A>C (p.S128R) (human) PMID:16843446|REF_RGD_ID:2313597 9016062 Sele selectin E gene DOID:820 myocarditis ISO RGD:11283 D RGD:9068941 20200609 RGD PMID:22268115|REF_RGD_ID:13702908 9016062 Sele selectin E gene DOID:848 arthritis ISO RGD:11283 D RGD:9068941 20200609 RGD PMID:16207337|REF_RGD_ID:1580041 9016062 Sele selectin E gene DOID:8481 rheumatic myocarditis severity ISO RGD:736831 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:22987107|REF_RGD_ID:13702907 9016062 Sele selectin E gene DOID:9000808 Hypercholesterolemia ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14602771 9016062 Sele selectin E gene DOID:9000998 Brain Injuries ISO RGD:3654 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19107536|REF_RGD_ID:2313599 9016062 Sele selectin E gene DOID:9004009 Reperfusion Injury ISO RGD:3654 D RGD:9068941 20200609 RGD PMID:19489247|REF_RGD_ID:2313598 9016062 Sele selectin E gene DOID:9004009 Reperfusion Injury ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17112405|PMID:23743330 9016062 Sele selectin E gene DOID:9007102 Myocardial Ischemia ISO RGD:736831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9016062 Sele selectin E gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:736831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 9016062 Sele selectin E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9016062 Sele selectin E gene DOID:9744 type 1 diabetes mellitus ISO RGD:736831 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18791689|REF_RGD_ID:2313595 9016077 Afg1l AFG1 like ATPase gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1349497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 9016077 Afg1l AFG1 like ATPase gene DOID:630 genetic disease ISO RGD:1349497 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016103 Actrt1 actin related protein T1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9016103 Actrt1 actin related protein T1 gene DOID:1056 oculocerebrorenal syndrome ISO RGD:1605289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:17142121 9016103 Actrt1 actin related protein T1 gene DOID:12849 autistic disorder ISO RGD:1605289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9016103 Actrt1 actin related protein T1 gene DOID:630 genetic disease ISO RGD:1605289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016108 Myh15 myosin heavy chain 15 gene DOID:630 genetic disease ISO RGD:1348086 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016108 Myh15 myosin heavy chain 15 gene DOID:9000528 Coronary Disease ISO RGD:1348086 D RGD:9068941 20200609 RGD DNA:snp:exon:EX28T>C rs3900940 (human) PMID:18073581|REF_RGD_ID:2317145 9016108 Myh15 myosin heavy chain 15 gene DOID:9007096 Stroke ISO RGD:1348086 D RGD:9068941 20200609 RGD DNA:snp:exon:EX28T>C rs3900940 (human) PMID:19752551|REF_RGD_ID:2317144 9016154 Prkd1 protein kinase D1 gene DOID:0080820 occupational asthma ISO RGD:1351212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27504716 9016154 Prkd1 protein kinase D1 gene DOID:10283 prostate cancer ISO RGD:1351212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9016154 Prkd1 protein kinase D1 gene DOID:1682 congenital heart disease ISO RGD:1351212 D RGD:9068941 20230427 RGD DNA:SNP:intron:c.265-1G>T (human) PMID:33919081|REF_RGD_ID:329322879 9016154 Prkd1 protein kinase D1 gene DOID:1682 congenital heart disease ISO RGD:1351212 D RGD:9068941 20230427 RGD DNA:missense mutations:CDS:p.L299W, p.G592R (human) PMID:27479907|REF_RGD_ID:11560583 9016154 Prkd1 protein kinase D1 gene DOID:299 adenocarcinoma ISO RGD:1351212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25240283 9016154 Prkd1 protein kinase D1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1351212 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:28492532|PMID:31042289 9016154 Prkd1 protein kinase D1 gene DOID:5844 myocardial infarction treatment ISO RGD:620964 D RGD:9068941 20230420 RGD PMID:26064267|REF_RGD_ID:289474908 9016154 Prkd1 protein kinase D1 gene DOID:630 genetic disease ISO RGD:1351212 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9016154 Prkd1 protein kinase D1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:1551913 D RGD:9068941 20230420 RGD associated with Cardiomegaly PMID:25889640|REF_RGD_ID:290382408 9016154 Prkd1 protein kinase D1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1351212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25240283 9016154 Prkd1 protein kinase D1 gene DOID:9003936 Cardiomegaly ISO RGD:1351212 D RGD:9068941 20230420 RGD human gene in a mouse model PMID:16648482|REF_RGD_ID:243065275 9016154 Prkd1 protein kinase D1 gene DOID:9003936 Cardiomegaly ISO RGD:1551913 D RGD:9068941 20230406 RGD protein:increased activity:heart (mouse) PMID:24161911|REF_RGD_ID:243048462 9016154 Prkd1 protein kinase D1 gene DOID:9003936 Cardiomegaly ISO RGD:620964 D RGD:9068941 20230420 RGD protein:increased phosphorylation:heart left ventricle (rat) PMID:16648482|REF_RGD_ID:243065275 9016154 Prkd1 protein kinase D1 gene DOID:9003936 Cardiomegaly ameliorates ISO RGD:1551913 D RGD:9068941 20230427 RGD PMID:18287012|PMID:36172952|REF_RGD_ID:307436945|REF_RGD_ID:329322877 9016154 Prkd1 protein kinase D1 gene DOID:9004191 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA ISO RGD:1351212 D RGD:7240710 20190315 OMIM 9016154 Prkd1 protein kinase D1 gene DOID:9004191 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA ISO RGD:1351212 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart defects and ectodermal dysplasia PMID:25741868|PMID:27479907|PMID:28492532|PMID:32817298 9016154 Prkd1 protein kinase D1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351212 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9016154 Prkd1 protein kinase D1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:1351212 D RGD:9068941 20230420 RGD human gene in a mouse model PMID:25173922|REF_RGD_ID:307436943 9016154 Prkd1 protein kinase D1 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1551913 D RGD:9068941 20230420 RGD PMID:24345679|REF_RGD_ID:307727199 9016154 Prkd1 protein kinase D1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1351212 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 9016187 Rpa4 replication protein A4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9016187 Rpa4 replication protein A4 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 9016187 Rpa4 replication protein A4 gene DOID:12849 autistic disorder ISO RGD:1350001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9016187 Rpa4 replication protein A4 gene DOID:630 genetic disease ISO RGD:1350001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016192 Cd96 CD96 molecule gene DOID:0111581 C syndrome ISO RGD:1343806 D RGD:7240710 20180130 OMIM 9016192 Cd96 CD96 molecule gene DOID:0111581 C syndrome ISO RGD:1343806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: C syndrome PMID:17847009|PMID:25741868|PMID:28492532|PMID:34906502 9016192 Cd96 CD96 molecule gene DOID:2377 multiple sclerosis ISO RGD:1343806 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 9016192 Cd96 CD96 molecule gene DOID:630 genetic disease ISO RGD:1343806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9016217 Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1321262 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 9016217 Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:1059 intellectual disability ISO RGD:1321262 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9016217 Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:12849 autistic disorder ISO RGD:1321262 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autism 9016217 Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 gene DOID:630 genetic disease ISO RGD:1321262 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016293 Cd2ap CD2 associated protein gene DOID:0080600 COVID-19 ISO RGD:1347906 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9016293 Cd2ap CD2 associated protein gene DOID:0112245 focal segmental glomerulosclerosis 3 ISO RGD:1347906 D RGD:7240710 20180307 OMIM 9016293 Cd2ap CD2 associated protein gene DOID:0112245 focal segmental glomerulosclerosis 3 ISO RGD:1347906 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to PMID:10514378|PMID:12764198|PMID:17713465|PMID:18443213|PMID:19131354|PMID:22971997|PMID:24033266|PMID:25741868|PMID:26346198|PMID:28492532|PMID:30406062|PMID:30612599|PMID:31027891|PMID:33712733|PMID:34408996 9016293 Cd2ap CD2 associated protein gene DOID:10283 prostate cancer ISO RGD:1347906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:28492532 9016293 Cd2ap CD2 associated protein gene DOID:10652 Alzheimer's disease ISO RGD:1347906 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:21460841|PMID:30320580 9016293 Cd2ap CD2 associated protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1347906 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 9016293 Cd2ap CD2 associated protein gene DOID:557 kidney disease ISO RGD:1347906 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 9016293 Cd2ap CD2 associated protein gene DOID:630 genetic disease ISO RGD:1347906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9016293 Cd2ap CD2 associated protein gene DOID:783 end stage renal disease ISO RGD:1550249 D RGD:9068941 20220825 MouseDO 9016293 Cd2ap CD2 associated protein gene DOID:9004009 Reperfusion Injury ISO RGD:727803 D RGD:9068941 20200609 RGD PMID:16088078|REF_RGD_ID:1581187 9016314 Pde5a phosphodiesterase 5A gene DOID:10591 pre-eclampsia ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:18538317|REF_RGD_ID:2314465 9016314 Pde5a phosphodiesterase 5A gene DOID:12236 primary biliary cholangitis ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:17610866|REF_RGD_ID:2314466 9016314 Pde5a phosphodiesterase 5A gene DOID:1875 impotence ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:15667904|REF_RGD_ID:2314520 9016314 Pde5a phosphodiesterase 5A gene DOID:1875 impotence ISO RGD:620995 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:15578039|REF_RGD_ID:2314521 9016314 Pde5a phosphodiesterase 5A gene DOID:1875 impotence ISO RGD:620995 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia PMID:15920460|REF_RGD_ID:2314519 9016314 Pde5a phosphodiesterase 5A gene DOID:2986 IgA glomerulonephritis ISO RGD:732674 D RGD:9068941 20200609 RGD DNA:SNP: :rs13124532(human) PMID:20563733|REF_RGD_ID:7248685 9016314 Pde5a phosphodiesterase 5A gene DOID:4762 vasculogenic impotence ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:17287493|REF_RGD_ID:2314469 9016314 Pde5a phosphodiesterase 5A gene DOID:5844 myocardial infarction ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:17339532|REF_RGD_ID:2314468 9016314 Pde5a phosphodiesterase 5A gene DOID:630 genetic disease ISO RGD:732674 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016314 Pde5a phosphodiesterase 5A gene DOID:6432 pulmonary hypertension ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19881228|REF_RGD_ID:2314460 9016314 Pde5a phosphodiesterase 5A gene DOID:9000965 Neoplasm Metastasis ISO RGD:732674 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12972520 9016314 Pde5a phosphodiesterase 5A gene DOID:9003936 Cardiomegaly treatment ISO RGD:737352 D RGD:9068941 20200609 RGD PMID:15665834|REF_RGD_ID:1581008 9016314 Pde5a phosphodiesterase 5A gene DOID:9004009 Reperfusion Injury ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19474186|REF_RGD_ID:2314462 9016314 Pde5a phosphodiesterase 5A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732674 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9016314 Pde5a phosphodiesterase 5A gene DOID:9004538 Hearing Loss treatment ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:22270721|REF_RGD_ID:7775056 9016314 Pde5a phosphodiesterase 5A gene DOID:9004538 Hearing Loss treatment ISO RGD:737352 D RGD:9068941 20200609 RGD PMID:22270721|REF_RGD_ID:7775056 9016314 Pde5a phosphodiesterase 5A gene DOID:9005372 Inflammation ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19129291|REF_RGD_ID:2314463 9016314 Pde5a phosphodiesterase 5A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19542492|REF_RGD_ID:2314461 9016314 Pde5a phosphodiesterase 5A gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:17606845|REF_RGD_ID:2314467 9016314 Pde5a phosphodiesterase 5A gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:732674 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:17606845|REF_RGD_ID:2314467 9016314 Pde5a phosphodiesterase 5A gene DOID:9006599 Hypertriglyceridemia ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:18787522|REF_RGD_ID:2314464 9016314 Pde5a phosphodiesterase 5A gene DOID:9007096 Stroke ISO RGD:620995 D RGD:9068941 20200609 RGD PMID:19729580|REF_RGD_ID:2314459 9016345 Chsy3 chondroitin sulfate synthase 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603860 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9016345 Chsy3 chondroitin sulfate synthase 3 gene DOID:630 genetic disease ISO RGD:1603860 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016345 Chsy3 chondroitin sulfate synthase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9016345 Chsy3 chondroitin sulfate synthase 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603860 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9016378 Elapor2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 gene DOID:1826 epilepsy ISO RGD:1603535 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 9016378 Elapor2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9016378 Elapor2 endosome-lysosome associated apoptosis and autophagy regulator family member 2 gene DOID:630 genetic disease ISO RGD:1603535 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016401 Rrp8 ribosomal RNA processing 8 gene DOID:0060041 autism spectrum disorder ISO RGD:1603685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9016401 Rrp8 ribosomal RNA processing 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1603685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9016401 Rrp8 ribosomal RNA processing 8 gene DOID:630 genetic disease ISO RGD:1603685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016425 Ms4a15 membrane spanning 4-domains A15 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9016425 Ms4a15 membrane spanning 4-domains A15 gene DOID:1059 intellectual disability ISO RGD:1603162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9016425 Ms4a15 membrane spanning 4-domains A15 gene DOID:630 genetic disease ISO RGD:1603162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016445 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10064001|PMID:11132655|PMID:1279834|PMID:17245631 9016445 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:mutation: :20210G>A (human) PMID:21070754|REF_RGD_ID:6893603 9016445 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:22402172|REF_RGD_ID:7387314 9016445 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:21605330|REF_RGD_ID:7387259 9016445 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis no_association ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:mutation: :20210G>A (human) PMID:12632020|REF_RGD_ID:7394765 9016445 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:17293494|REF_RGD_ID:11035267 9016445 F2 coagulation factor II, thrombin gene DOID:0060903 thrombosis treatment ISO RGD:62288 D RGD:9068941 20200609 RGD associated with Carotid Artery Injuries PMID:15039280|REF_RGD_ID:10449423 9016445 F2 coagulation factor II, thrombin gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1353256 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 9016445 F2 coagulation factor II, thrombin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22841818 9016445 F2 coagulation factor II, thrombin gene DOID:0080600 COVID-19 disease_progression ISO RGD:1353256 D RGD:9068941 20200618 RGD associated with diabetes mellitus PMID:32345579|REF_RGD_ID:30296681 9016445 F2 coagulation factor II, thrombin gene DOID:0080600 COVID-19 severity ISO RGD:1353256 D RGD:9068941 20200625 RGD PMID:32198776|PMID:32302954|PMID:32350161|REF_RGD_ID:30296673|REF_RGD_ID:30296679|REF_RGD_ID:30309962 9016445 F2 coagulation factor II, thrombin gene DOID:0080652 calcium oxalate nephrolithiasis ISO RGD:61996 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:16981243|REF_RGD_ID:6893592 9016445 F2 coagulation factor II, thrombin gene DOID:0080941 acquired angioedema disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9129025|REF_RGD_ID:11565081 9016445 F2 coagulation factor II, thrombin gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1353256 D RGD:7240710 20240306 OMIM 9016445 F2 coagulation factor II, thrombin gene DOID:0111907 thrombophilia due to thrombin defect ISO RGD:1353256 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:22716977|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:27604259|PMID:28075532|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:31582550|PMID:32194638|PMID:34110897|PMID:34355501|PMID:35945029|PMID:6305407|PMID:6405779|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 9016445 F2 coagulation factor II, thrombin gene DOID:10003 sensorineural hearing loss ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:transition: :20210G>A (human) PMID:17334320|REF_RGD_ID:7387261 9016445 F2 coagulation factor II, thrombin gene DOID:10003 sensorineural hearing loss ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Stroke PMID:18636032|REF_RGD_ID:7387268 9016445 F2 coagulation factor II, thrombin gene DOID:10003 sensorineural hearing loss no_association ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:transition: :20210G>A(human) PMID:16572609|REF_RGD_ID:7387240 9016445 F2 coagulation factor II, thrombin gene DOID:10283 prostate cancer ISO RGD:1353256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9016445 F2 coagulation factor II, thrombin gene DOID:1059 intellectual disability ISO RGD:1353256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9016445 F2 coagulation factor II, thrombin gene DOID:10591 pre-eclampsia severity ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:polymorphism: :20210G>A(human) PMID:16246971|REF_RGD_ID:6893628 9016445 F2 coagulation factor II, thrombin gene DOID:10608 celiac disease ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:23556408|REF_RGD_ID:7387257 9016445 F2 coagulation factor II, thrombin gene DOID:10652 Alzheimer's disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8333868 9016445 F2 coagulation factor II, thrombin gene DOID:10923 sickle cell anemia ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:8191393|REF_RGD_ID:11565080 9016445 F2 coagulation factor II, thrombin gene DOID:10923 sickle cell anemia disease_progression ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:26286849|REF_RGD_ID:11565074 9016445 F2 coagulation factor II, thrombin gene DOID:11054 urinary bladder cancer severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:22236518|REF_RGD_ID:6893573 9016445 F2 coagulation factor II, thrombin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1894189 9016445 F2 coagulation factor II, thrombin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:1336986|REF_RGD_ID:10449429 9016445 F2 coagulation factor II, thrombin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Wounds and Injuries PMID:19682336|REF_RGD_ID:10449422 9016445 F2 coagulation factor II, thrombin gene DOID:11247 disseminated intravascular coagulation ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:22229668|PMID:23737601|REF_RGD_ID:10449432|REF_RGD_ID:6893489 9016445 F2 coagulation factor II, thrombin gene DOID:11695 portal vein thrombosis severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:plasma (human) PMID:28465646|REF_RGD_ID:14985237 9016445 F2 coagulation factor II, thrombin gene DOID:12134 factor VIII deficiency treatment ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:26635073|REF_RGD_ID:11565076 9016445 F2 coagulation factor II, thrombin gene DOID:12140 Chagas disease ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:20699256|REF_RGD_ID:5147778 9016445 F2 coagulation factor II, thrombin gene DOID:12140 Chagas disease ISO RGD:1353256 D RGD:9068941 20201127 RGD protein:increased expression:blood plasma (human) PMID:21866301|REF_RGD_ID:40818435 9016445 F2 coagulation factor II, thrombin gene DOID:12205 dengue disease ISO RGD:1353256 D RGD:9068941 20201127 RGD PMID:22138554|REF_RGD_ID:40818430 9016445 F2 coagulation factor II, thrombin gene DOID:12259 hemophilia B treatment ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:26635073|REF_RGD_ID:11565076 9016445 F2 coagulation factor II, thrombin gene DOID:1247 blood coagulation disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17721328 9016445 F2 coagulation factor II, thrombin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1353256 D RGD:9068941 20201203 RGD associated with diarrhea;protein:increased expression:plasma (human) PMID:9423793|REF_RGD_ID:40818428 9016445 F2 coagulation factor II, thrombin gene DOID:12858 Huntington's disease ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:21297956|REF_RGD_ID:5147768 9016445 F2 coagulation factor II, thrombin gene DOID:13001 carotid stenosis ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP:3'-UTR:in men only PMID:15748240|REF_RGD_ID:5509914 9016445 F2 coagulation factor II, thrombin gene DOID:14115 toxic shock syndrome severity ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:decreased expression:blood plasma (human) PMID:2788582|REF_RGD_ID:40822807 9016445 F2 coagulation factor II, thrombin gene DOID:14735 hereditary angioedema disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9129025|REF_RGD_ID:11565081 9016445 F2 coagulation factor II, thrombin gene DOID:1555 urticaria ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21488867|REF_RGD_ID:5147756 9016445 F2 coagulation factor II, thrombin gene DOID:1727 retinal vein occlusion ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:22800650|REF_RGD_ID:7387258 9016445 F2 coagulation factor II, thrombin gene DOID:1727 retinal vein occlusion no_association ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP: :20210G>A (human) PMID:14994919|REF_RGD_ID:7394774 9016445 F2 coagulation factor II, thrombin gene DOID:1883 hepatitis C treatment ISO RGD:1353256 D RGD:9068941 20201127 RGD PMID:28129465|REF_RGD_ID:40818432 9016445 F2 coagulation factor II, thrombin gene DOID:1936 atherosclerosis treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:20979870|REF_RGD_ID:7387315 9016445 F2 coagulation factor II, thrombin gene DOID:1969 cerebral palsy ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:6405779|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 9016445 F2 coagulation factor II, thrombin gene DOID:2048 autoimmune hepatitis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:20821236|REF_RGD_ID:5147775 9016445 F2 coagulation factor II, thrombin gene DOID:2048 autoimmune hepatitis disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21711423|REF_RGD_ID:5147750 9016445 F2 coagulation factor II, thrombin gene DOID:2235 prothrombin deficiency ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital factor II deficiency | ClinVar Annotator: match by term: Factor II deficiency PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:13228032|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19598065|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:31064749|PMID:34110897|PMID:34355501|PMID:6305407|PMID:6405779|PMID:7740448|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 9016445 F2 coagulation factor II, thrombin gene DOID:2297 leptospirosis ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:increased expression:blood plasma (human) PMID:18171258|REF_RGD_ID:40818429 9016445 F2 coagulation factor II, thrombin gene DOID:2297 leptospirosis severity ISO RGD:1353256 D RGD:9068941 20201127 RGD protein:increased expression:blood plasma (human) PMID:20002620|REF_RGD_ID:40819859 9016445 F2 coagulation factor II, thrombin gene DOID:2316 brain ischemia ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14753426|PMID:15534175 9016445 F2 coagulation factor II, thrombin gene DOID:2394 ovarian cancer ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21833453|REF_RGD_ID:5147781 9016445 F2 coagulation factor II, thrombin gene DOID:2452 thrombophilia ISO RGD:1353256 D RGD:9068941 20200730 CTD CTD Direct Evidence: marker/mechanism PMID:16628723 9016445 F2 coagulation factor II, thrombin gene DOID:2452 thrombophilia ISO RGD:61996 D RGD:9068941 20200730 RGD PMID:21232185|REF_RGD_ID:7387320 9016445 F2 coagulation factor II, thrombin gene DOID:2527 nephrosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18541230 9016445 F2 coagulation factor II, thrombin gene DOID:2527 nephrosis ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:18541230|REF_RGD_ID:6893577 9016445 F2 coagulation factor II, thrombin gene DOID:2841 asthma ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Rhinosinusitis, associated with Nasal Polyps;protein:increased expression:nasal mucus PMID:21711961|REF_RGD_ID:5147783 9016445 F2 coagulation factor II, thrombin gene DOID:2841 asthma ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21658190|REF_RGD_ID:5147753 9016445 F2 coagulation factor II, thrombin gene DOID:2921 glomerulonephritis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:17519558|REF_RGD_ID:6893586 9016445 F2 coagulation factor II, thrombin gene DOID:2921 glomerulonephritis ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression;urine PMID:15164604|REF_RGD_ID:6893593 9016445 F2 coagulation factor II, thrombin gene DOID:2987 familial mediterranean fever ISO RGD:1353256 D RGD:9068941 20201127 RGD protein:increased expression:blood plasma (human) PMID:16721492|REF_RGD_ID:40818434 9016445 F2 coagulation factor II, thrombin gene DOID:3070 high grade glioma treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:15975137|REF_RGD_ID:1578509 9016445 F2 coagulation factor II, thrombin gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21660493|REF_RGD_ID:5147752 9016445 F2 coagulation factor II, thrombin gene DOID:3310 atopic dermatitis ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21488867|REF_RGD_ID:5147756 9016445 F2 coagulation factor II, thrombin gene DOID:3393 coronary artery disease treatment ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:14961168|REF_RGD_ID:10449426 9016445 F2 coagulation factor II, thrombin gene DOID:3525 middle cerebral artery infarction ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29651748 9016445 F2 coagulation factor II, thrombin gene DOID:3526 cerebral infarction ISO RGD:1353256 D RGD:7240710 20240306 OMIM 9016445 F2 coagulation factor II, thrombin gene DOID:3526 cerebral infarction ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ischemic stroke | ClinVar Annotator: match by term: Ischemic stroke, susceptibility to PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 9016445 F2 coagulation factor II, thrombin gene DOID:3572 intracranial sinus thrombosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12269725 9016445 F2 coagulation factor II, thrombin gene DOID:3770 pulmonary fibrosis ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:21312187|REF_RGD_ID:5147767 9016445 F2 coagulation factor II, thrombin gene DOID:418 systemic scleroderma ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:9374919|REF_RGD_ID:11565087 9016445 F2 coagulation factor II, thrombin gene DOID:4195 hyperglycemia ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18487475|REF_RGD_ID:2313851 9016445 F2 coagulation factor II, thrombin gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:22065054|REF_RGD_ID:6893520 9016445 F2 coagulation factor II, thrombin gene DOID:4481 allergic rhinitis ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucus PMID:21711961|REF_RGD_ID:5147783 9016445 F2 coagulation factor II, thrombin gene DOID:4724 brain edema ISO RGD:61996 D RGD:9068941 20200609 RGD associated with Cerebral Hemorrhage PMID:20541575|REF_RGD_ID:5490126 9016445 F2 coagulation factor II, thrombin gene DOID:5082 liver cirrhosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10216089 9016445 F2 coagulation factor II, thrombin gene DOID:5082 liver cirrhosis severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:15726661|REF_RGD_ID:14985236 9016445 F2 coagulation factor II, thrombin gene DOID:5082 liver cirrhosis severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:29768734|REF_RGD_ID:14985235 9016445 F2 coagulation factor II, thrombin gene DOID:5082 liver cirrhosis severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:9863491|REF_RGD_ID:14401592 9016445 F2 coagulation factor II, thrombin gene DOID:5419 schizophrenia ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25821032 9016445 F2 coagulation factor II, thrombin gene DOID:5614 eye disease ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;DNA:mutation: :20210G>A (human) PMID:15077257|REF_RGD_ID:7394769 9016445 F2 coagulation factor II, thrombin gene DOID:5844 myocardial infarction ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10027711|PMID:9292507|PMID:9531249 9016445 F2 coagulation factor II, thrombin gene DOID:5844 myocardial infarction susceptibility ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:polymorphism::20210G>A(human) PMID:12480694|REF_RGD_ID:1581022 9016445 F2 coagulation factor II, thrombin gene DOID:630 genetic disease ISO RGD:1353256 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31582550|PMID:32194638 9016445 F2 coagulation factor II, thrombin gene DOID:684 hepatocellular carcinoma ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2821104 9016445 F2 coagulation factor II, thrombin gene DOID:684 hepatocellular carcinoma severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:altered expression, altered processing:liver (human) PMID:7620113|REF_RGD_ID:14975114 9016445 F2 coagulation factor II, thrombin gene DOID:7148 rheumatoid arthritis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26001728 9016445 F2 coagulation factor II, thrombin gene DOID:783 end stage renal disease treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:22473220|REF_RGD_ID:7387323 9016445 F2 coagulation factor II, thrombin gene DOID:8337 appendicitis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21663567|REF_RGD_ID:5147751 9016445 F2 coagulation factor II, thrombin gene DOID:8506 bullous pemphigoid ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21488867|REF_RGD_ID:5147756 9016445 F2 coagulation factor II, thrombin gene DOID:8536 herpes zoster treatment ISO RGD:1353256 D RGD:9068941 20201203 RGD PMID:11449671|REF_RGD_ID:40818431 9016445 F2 coagulation factor II, thrombin gene DOID:8577 ulcerative colitis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21593018|REF_RGD_ID:5147754 9016445 F2 coagulation factor II, thrombin gene DOID:874 bacterial pneumonia ISO RGD:61996 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21897338|REF_RGD_ID:6893486 9016445 F2 coagulation factor II, thrombin gene DOID:8778 Crohn's disease ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21593018|REF_RGD_ID:5147754 9016445 F2 coagulation factor II, thrombin gene DOID:9000039 Spinal Cord Injuries ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:16344894|REF_RGD_ID:2303423 9016445 F2 coagulation factor II, thrombin gene DOID:9000040 Hypertrophy ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26385185 9016445 F2 coagulation factor II, thrombin gene DOID:9000184 Ventricular Fibrillation ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:increased expression:plasma: PMID:16649726|REF_RGD_ID:11565086 9016445 F2 coagulation factor II, thrombin gene DOID:9000965 Neoplasm Metastasis ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Carcinoma, Small cell;protein:increased expression:brain PMID:22065054|REF_RGD_ID:6893520 9016445 F2 coagulation factor II, thrombin gene DOID:9000998 Brain Injuries severity ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21355766|REF_RGD_ID:5147766 9016445 F2 coagulation factor II, thrombin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma: PMID:22624582|REF_RGD_ID:11041730 9016445 F2 coagulation factor II, thrombin gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21496882|REF_RGD_ID:5147784 9016445 F2 coagulation factor II, thrombin gene DOID:9001708 Hemorrhagic Shock ISO RGD:61996 D RGD:9068941 20200609 RGD protein:decreased activity:blood (rat) PMID:21550061|REF_RGD_ID:5132267 9016445 F2 coagulation factor II, thrombin gene DOID:9001747 Ventricular Dysfunction, Left severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Muscular Dystrophy, Duchenne PMID:16122628|REF_RGD_ID:11565083 9016445 F2 coagulation factor II, thrombin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:polymorphism: :20210G>A(human) PMID:21574459|REF_RGD_ID:6893575 9016445 F2 coagulation factor II, thrombin gene DOID:9002165 Diabetic Nephropathies ISO RGD:1353256 D RGD:9068941 20201120 RGD protein:increased expression:plasma (human) PMID:14983223|REF_RGD_ID:2313643 9016445 F2 coagulation factor II, thrombin gene DOID:9002165 Diabetic Nephropathies disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21955218|REF_RGD_ID:6893574 9016445 F2 coagulation factor II, thrombin gene DOID:9002211 Hyperalgesia ISO RGD:62288 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:16251448|REF_RGD_ID:7387272 9016445 F2 coagulation factor II, thrombin gene DOID:9002315 Kidney Calculi susceptibility ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:haplotypes: : PMID:21067798|REF_RGD_ID:6893526 9016445 F2 coagulation factor II, thrombin gene DOID:9002331 Knee Osteoarthritis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21041276|REF_RGD_ID:5147774 9016445 F2 coagulation factor II, thrombin gene DOID:9002457 Experimental Arthritis ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:21436072|REF_RGD_ID:5147764 9016445 F2 coagulation factor II, thrombin gene DOID:9002676 Cerebral Hemorrhage severity ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21244583|REF_RGD_ID:5147770 9016445 F2 coagulation factor II, thrombin gene DOID:9002955 Nerve Degeneration ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19969022 9016445 F2 coagulation factor II, thrombin gene DOID:9003049 Femur Head Necrosis ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with kidney transplantation;20210G>A(human) PMID:16968732|REF_RGD_ID:6902907 9016445 F2 coagulation factor II, thrombin gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14693181 9016445 F2 coagulation factor II, thrombin gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:11471205|REF_RGD_ID:1580340 9016445 F2 coagulation factor II, thrombin gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with coronary artery disease; DNA:polymorphism: :20210G>A(human) PMID:21955693|REF_RGD_ID:6893596 9016445 F2 coagulation factor II, thrombin gene DOID:9003121 Thromboembolism ISO RGD:1353256 D RGD:9068941 20201127 RGD associated with infective endocarditis;protein:increased expression:blood plasma (human) PMID:15049384|REF_RGD_ID:40819860 9016445 F2 coagulation factor II, thrombin gene DOID:9003281 Spontaneous Abortions ISO RGD:1353256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:28492532|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 9016445 F2 coagulation factor II, thrombin gene DOID:9003311 Urinary Calculi ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:22494008|REF_RGD_ID:6893519 9016445 F2 coagulation factor II, thrombin gene DOID:9003505 Venous Thromboembolism ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Venous thromboembolism PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 9016445 F2 coagulation factor II, thrombin gene DOID:9003565 Paratuberculosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22633222 9016445 F2 coagulation factor II, thrombin gene DOID:9003871 Venous Thrombosis ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12296757|PMID:19920886|PMID:9869612 9016445 F2 coagulation factor II, thrombin gene DOID:9003871 Venous Thrombosis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:9409269|REF_RGD_ID:1580342 9016445 F2 coagulation factor II, thrombin gene DOID:9003871 Venous Thrombosis ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:23535565|REF_RGD_ID:10449430 9016445 F2 coagulation factor II, thrombin gene DOID:9004009 Reperfusion Injury ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:20705928|REF_RGD_ID:5147777 9016445 F2 coagulation factor II, thrombin gene DOID:9004082 Mesenteric Ischemia ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24282370 9016445 F2 coagulation factor II, thrombin gene DOID:9004484 Sepsis ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:12361199|REF_RGD_ID:10449428 9016445 F2 coagulation factor II, thrombin gene DOID:9004484 Sepsis treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:19705256|REF_RGD_ID:7387324 9016445 F2 coagulation factor II, thrombin gene DOID:9004610 Acute Lung Injury ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:22804886|REF_RGD_ID:7387313 9016445 F2 coagulation factor II, thrombin gene DOID:9005166 Contusions ISO RGD:61996 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries;mRNA:increased expression:spinal cord PMID:11186232|REF_RGD_ID:7387307 9016445 F2 coagulation factor II, thrombin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:62288 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15990447|REF_RGD_ID:2313862 9016445 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia ISO RGD:1353256 D RGD:9068941 20201203 RGD protein:increased expression:blood plasma (human) PMID:10887118|REF_RGD_ID:40818427 9016445 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:20519137|PMID:21396682|PMID:22227956|REF_RGD_ID:5147765|REF_RGD_ID:5147779|REF_RGD_ID:6893482 9016445 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:plasma (human) PMID:9863491|REF_RGD_ID:14401592 9016445 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia severity ISO RGD:1353256 D RGD:9068941 20201203 RGD associated with liver cirrhosis;protein:increased expression:blood plasma (human) PMID:7615203|REF_RGD_ID:14974253 9016445 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia treatment ISO RGD:1353256 D RGD:9068941 20201203 RGD PMID:10604885|REF_RGD_ID:40818436 9016445 F2 coagulation factor II, thrombin gene DOID:9005930 Endotoxemia treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:25396762|REF_RGD_ID:10449434 9016445 F2 coagulation factor II, thrombin gene DOID:9007075 Congenital Prothrombin Deficiency ISO RGD:1353256 D RGD:7240710 20240306 OMIM 9016445 F2 coagulation factor II, thrombin gene DOID:9007075 Congenital Prothrombin Deficiency ISO RGD:1353256 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital prothrombin deficiency | ClinVar Annotator: match by term: Hereditary factor II deficiency disease | ClinVar Annotator: match by term: Prolonged prothrombin time PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:10651742|PMID:11154146|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:12149217|PMID:13217497|PMID:13228032|PMID:1349838|PMID:1421398|PMID:14489469|PMID:14629473|PMID:15059842|PMID:15534175|PMID:1557383|PMID:16199547|PMID:16487178|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19598065|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:23711336|PMID:23852823|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27013614|PMID:27031503|PMID:2719946|PMID:27604259|PMID:28075532|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:31064749|PMID:3242619|PMID:33977210|PMID:34110897|PMID:34355501|PMID:3567158|PMID:35945029|PMID:3771562|PMID:3801671|PMID:444582|PMID:6085205|PMID:625142|PMID:6305407|PMID:6405779|PMID:7740448|PMID:8696333|PMID:8839854|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612|PMID:9890721 9016445 F2 coagulation factor II, thrombin gene DOID:9007096 Stroke ISO RGD:1353256 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CEREBROVASCULAR ACCIDENT PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 9016445 F2 coagulation factor II, thrombin gene DOID:9007153 Pediatric Crohn's Disease ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21287673|REF_RGD_ID:5147769 9016445 F2 coagulation factor II, thrombin gene DOID:9007329 Human Viral Hepatitis disease_progression ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21805422|REF_RGD_ID:5147782 9016445 F2 coagulation factor II, thrombin gene DOID:9007367 Septic Peritonitis severity ISO RGD:62288 D RGD:9068941 20201203 RGD PMID:18927430|REF_RGD_ID:40818433 9016445 F2 coagulation factor II, thrombin gene DOID:9007479 Habitual Abortions ISO RGD:1353256 D RGD:7240710 20240306 OMIM 9016445 F2 coagulation factor II, thrombin gene DOID:9007479 Habitual Abortions ISO RGD:1353256 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 2 PMID:10027711|PMID:10233438|PMID:10233439|PMID:10336270|PMID:10348710|PMID:10348711|PMID:10348712|PMID:10406905|PMID:10477778|PMID:10544935|PMID:11358905|PMID:11443298|PMID:11506076|PMID:11796466|PMID:11874997|PMID:11904676|PMID:15059842|PMID:15534175|PMID:16493002|PMID:16606808|PMID:19159930|PMID:19289024|PMID:19531787|PMID:19554541|PMID:19560233|PMID:19652888|PMID:20301327|PMID:21243428|PMID:21349849|PMID:2222810|PMID:23429074|PMID:24033266|PMID:2429850|PMID:25741868|PMID:27031503|PMID:2825773|PMID:28492532|PMID:28707429|PMID:30297698|PMID:34110897|PMID:34355501|PMID:6305407|PMID:8696333|PMID:8896550|PMID:8916933|PMID:9106528|PMID:9292507|PMID:9462220|PMID:9493607|PMID:9531249|PMID:9569177|PMID:9694698|PMID:9869612 9016445 F2 coagulation factor II, thrombin gene DOID:9007874 Liver Failure ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18618250 9016445 F2 coagulation factor II, thrombin gene DOID:9007874 Liver Failure severity ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:blood plasma (human) PMID:7615203|REF_RGD_ID:14974253 9016445 F2 coagulation factor II, thrombin gene DOID:9008217 Hemorrhage ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740448 9016445 F2 coagulation factor II, thrombin gene DOID:9008217 Hemorrhage ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:20664909|REF_RGD_ID:10449431 9016445 F2 coagulation factor II, thrombin gene DOID:9008217 Hemorrhage ISO RGD:61996 D RGD:9068941 20200609 RGD associated with Wounds and Injuries PMID:23481505|REF_RGD_ID:10449433 9016445 F2 coagulation factor II, thrombin gene DOID:9008217 Hemorrhage ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:9636195|REF_RGD_ID:734956 9016445 F2 coagulation factor II, thrombin gene DOID:9074 systemic lupus erythematosus ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:20807656|REF_RGD_ID:5147776 9016445 F2 coagulation factor II, thrombin gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP: :19911A>G (rs3136516) (human) PMID:21239755|REF_RGD_ID:5147772 9016445 F2 coagulation factor II, thrombin gene DOID:9279 hyperhomocysteinemia treatment ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:16046705|REF_RGD_ID:1601105 9016445 F2 coagulation factor II, thrombin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353256 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:18487475|REF_RGD_ID:2313851 9016445 F2 coagulation factor II, thrombin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353256 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17971179|REF_RGD_ID:2313852 9016445 F2 coagulation factor II, thrombin gene DOID:9452 steatotic liver disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008134 9016445 F2 coagulation factor II, thrombin gene DOID:9477 pulmonary embolism no_association ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:20221C>T (human) PMID:25316662|REF_RGD_ID:10449427 9016445 F2 coagulation factor II, thrombin gene DOID:9477 pulmonary embolism susceptibility ISO RGD:1353256 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:19911A>G (human) PMID:25316662|REF_RGD_ID:10449427 9016445 F2 coagulation factor II, thrombin gene DOID:9540 vascular skin disease ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17535202 9016445 F2 coagulation factor II, thrombin gene DOID:9970 obesity ISO RGD:1353256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22841818 9016445 F2 coagulation factor II, thrombin gene DOID:9970 obesity ISO RGD:1353256 D RGD:9068941 20200609 RGD PMID:21210148|REF_RGD_ID:5147773 9016445 F2 coagulation factor II, thrombin gene DOID:9970 obesity ISO RGD:61996 D RGD:9068941 20200609 RGD PMID:23628972|REF_RGD_ID:7387310 9016445 F2 coagulation factor II, thrombin gene DOID:9970 obesity ISO RGD:62288 D RGD:9068941 20200609 RGD PMID:23628972|REF_RGD_ID:7387310 9016463 Hgfac HGF activator gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1350664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 9016463 Hgfac HGF activator gene DOID:1856 cherubism ISO RGD:1350664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 9016463 Hgfac HGF activator gene DOID:630 genetic disease ISO RGD:1350664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016463 Hgfac HGF activator gene DOID:684 hepatocellular carcinoma ISO RGD:1350664 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 9016463 Hgfac HGF activator gene DOID:8778 Crohn's disease ISO RGD:1350664 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:36038634 9016495 Romo1 reactive oxygen species modulator 1 gene DOID:5199 ureteral obstruction ISO RGD:1587111 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:28791399|REF_RGD_ID:13463462 9016495 Romo1 reactive oxygen species modulator 1 gene DOID:630 genetic disease ISO RGD:1349152 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0050444 infantile Refsum disease ISO RGD:1319563 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594|PMID:9700193 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:10862081|PMID:21031596|PMID:28492532|PMID:31674007|PMID:9683594 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0050952 spastic ataxia ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10862081|PMID:21031596|PMID:25741868|PMID:28492532|PMID:9683594 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:1319563 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10862081|PMID:9683594|PMID:9700193 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0080481 peroxisome biogenesis disorder 6A ISO RGD:1319563 D RGD:7240710 20180425 OMIM 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0080481 peroxisome biogenesis disorder 6A ISO RGD:1319563 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger) PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:7565793|PMID:8982949|PMID:9536098|PMID:9683594|PMID:9700193 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0111934 immunodeficiency 38 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:0111935 immunodeficiency 16 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:630 genetic disease ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10862081|PMID:16199547|PMID:21031596|PMID:25741868|PMID:28492532|PMID:9683594 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:9006522 Peroxisome Biogenesis Disorder 6B ISO RGD:1319563 D RGD:7240710 20180130 OMIM 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:9006522 Peroxisome Biogenesis Disorder 6B ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:8982949|PMID:9683594|PMID:9700193 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1319563 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group B PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:19492091|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:26477546|PMID:2723085|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:31674007|PMID:34000440|PMID:7565793|PMID:9536098|PMID:9683594|PMID:9700193 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:905 Zellweger syndrome ISO RGD:1319563 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594|PMID:9700193 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:905 Zellweger syndrome ISO RGD:1319563 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594|PMID:9700193 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:905 Zellweger syndrome ISO RGD:1319563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9536098|PMID:9683594|PMID:9700193 9016505 Pex10 peroxisomal biogenesis factor 10 gene DOID:906 peroxisomal disease ISO RGD:1607093 D RGD:9068941 20200609 RGD PMID:25176044|REF_RGD_ID:13207455 9016517 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:13938 amenorrhea ISO RGD:1351797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9016517 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:3070 high grade glioma disease_progression ISO RGD:1351797 D RGD:9068941 20200609 RGD PMID:23050879|REF_RGD_ID:13463483 9016517 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:3070 high grade glioma disease_progression ISO RGD:708456 D RGD:9068941 20200609 RGD PMID:23050879|REF_RGD_ID:13463483 9016517 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:3070 high grade glioma severity ISO RGD:1351797 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm,white matter: PMID:23050879|REF_RGD_ID:13463483 9016517 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:630 genetic disease ISO RGD:1351797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016517 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:684 hepatocellular carcinoma ISO RGD:1351797 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33838155 9016517 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:9119 acute myeloid leukemia ISO RGD:1351797 D RGD:7240710 20180130 OMIM 9016517 Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 gene DOID:9119 acute myeloid leukemia ISO RGD:1351797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868 9016547 Tprkb TP53RK binding protein gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1603050 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 9016547 Tprkb TP53RK binding protein gene DOID:0080247 Galloway-Mowat syndrome 5 ISO RGD:1603050 D RGD:7240710 20190315 OMIM 9016547 Tprkb TP53RK binding protein gene DOID:0080247 Galloway-Mowat syndrome 5 ISO RGD:1603050 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 PMID:25741868|PMID:28492532|PMID:28805828|PMID:29127259 9016547 Tprkb TP53RK binding protein gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1603050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28805828 9016547 Tprkb TP53RK binding protein gene DOID:1184 nephrotic syndrome ISO RGD:1603050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:28805828|PMID:29127259 9016547 Tprkb TP53RK binding protein gene DOID:543 dystonia ISO RGD:1603050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9016547 Tprkb TP53RK binding protein gene DOID:630 genetic disease ISO RGD:1603050 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9016547 Tprkb TP53RK binding protein gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1603050 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9016569 Pgbd1 piggyBac transposable element derived 1 gene DOID:11372 megacolon ISO RGD:1352422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9016569 Pgbd1 piggyBac transposable element derived 1 gene DOID:5419 schizophrenia ISO RGD:1352422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22037552 9016569 Pgbd1 piggyBac transposable element derived 1 gene DOID:630 genetic disease ISO RGD:1352422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016582 Bbs12 Bardet-Biedl syndrome 12 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603548 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:17160889|PMID:20498079|PMID:22025579|PMID:22773737|PMID:23591405|PMID:25741868|PMID:25780760|PMID:28492532|PMID:30614526|PMID:31196119 9016582 Bbs12 Bardet-Biedl syndrome 12 gene DOID:0110134 Bardet-Biedl syndrome 12 ISO RGD:1603548 D RGD:7240710 20180130 OMIM 9016582 Bbs12 Bardet-Biedl syndrome 12 gene DOID:0110134 Bardet-Biedl syndrome 12 ISO RGD:1603548 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BBS12-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 12 PMID:17160889|PMID:20080638|PMID:20120035|PMID:20142850|PMID:20472660|PMID:20498079|PMID:20648243|PMID:20827784|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22410627|PMID:22773737|PMID:23591405|PMID:24416769|PMID:24611592|PMID:25133751|PMID:25170860|PMID:25741868|PMID:25780760|PMID:25982971|PMID:26082521|PMID:26489029|PMID:27004616|PMID:27659767|PMID:27708425|PMID:28224992|PMID:28492532|PMID:28912962|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31888296|PMID:32448990|PMID:32531858|PMID:33046855|PMID:33532864|PMID:35912300 9016582 Bbs12 Bardet-Biedl syndrome 12 gene DOID:10584 retinitis pigmentosa ISO RGD:1603548 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17160889|PMID:20120035|PMID:20498079|PMID:25741868|PMID:28492532|PMID:30718709|PMID:32448990 9016582 Bbs12 Bardet-Biedl syndrome 12 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603548 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:17160889|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20142850|PMID:20472660|PMID:20498079|PMID:20648243|PMID:20827784|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22410627|PMID:22773737|PMID:23591405|PMID:24611592|PMID:25133751|PMID:25170860|PMID:25741868|PMID:25780760|PMID:25982971|PMID:26489029|PMID:27004616|PMID:27659767|PMID:27708425|PMID:28224992|PMID:28492532|PMID:28912962|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31888296|PMID:32448990|PMID:32531858|PMID:33046855|PMID:33964006|PMID:35912300 9016582 Bbs12 Bardet-Biedl syndrome 12 gene DOID:630 genetic disease ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20472660|PMID:25133751|PMID:25741868|PMID:28492532|PMID:33046855 9016582 Bbs12 Bardet-Biedl syndrome 12 gene DOID:8501 fundus dystrophy ISO RGD:1603548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17160889|PMID:20080638|PMID:20120035|PMID:20472660|PMID:20498079|PMID:20827784|PMID:21209035|PMID:21463199|PMID:21642631|PMID:22410627|PMID:24611592|PMID:25741868|PMID:25982971|PMID:26489029|PMID:27659767|PMID:28492532|PMID:30614526|PMID:30718709|PMID:32531858|PMID:33046855 9016582 Bbs12 Bardet-Biedl syndrome 12 gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 PMID:17160889|PMID:23591405|PMID:25741868|PMID:28492532|PMID:30614526 9016582 Bbs12 Bardet-Biedl syndrome 12 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:26299366|PMID:28492532 9016582 Bbs12 Bardet-Biedl syndrome 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9016582 Bbs12 Bardet-Biedl syndrome 12 gene DOID:9006534 Nervous System Malformations ISO RGD:1603548 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:17160889|PMID:23591405|PMID:25741868|PMID:28492532|PMID:31888296|PMID:35912300 9016598 Apip APAF1 interacting protein gene DOID:1059 intellectual disability ISO RGD:1603043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9016598 Apip APAF1 interacting protein gene DOID:630 genetic disease ISO RGD:1603043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016598 Apip APAF1 interacting protein gene DOID:9003678 Pyruvate Dehydrogenase E3-Binding Protein Deficiency ISO RGD:1603043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency 9016609 Col27a1 collagen type XXVII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1350673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9016609 Col27a1 collagen type XXVII alpha 1 chain gene DOID:9007513 Steel Syndrome ISO RGD:1350673 D RGD:7240710 20180130 OMIM 9016609 Col27a1 collagen type XXVII alpha 1 chain gene DOID:9007513 Steel Syndrome ISO RGD:1350673 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Steel syndrome PMID:16199547|PMID:17576681|PMID:24986830|PMID:25741868|PMID:28276056|PMID:28322503|PMID:28492532|PMID:28895531|PMID:31903681|PMID:31913554|PMID:32376988|PMID:33359165|PMID:9536098 9016674 Celf2 CUGBP Elav-like family member 2 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:68488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 9016674 Celf2 CUGBP Elav-like family member 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:68488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9016674 Celf2 CUGBP Elav-like family member 2 gene DOID:0070383 developmental and epileptic encephalopathy 97 ISO RGD:68488 D RGD:7240710 20211020 OMIM 9016674 Celf2 CUGBP Elav-like family member 2 gene DOID:0070383 developmental and epileptic encephalopathy 97 ISO RGD:68488 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 97 PMID:25741868|PMID:33131106 9016674 Celf2 CUGBP Elav-like family member 2 gene DOID:5419 schizophrenia ISO RGD:68488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 9016674 Celf2 CUGBP Elav-like family member 2 gene DOID:630 genetic disease ISO RGD:68488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016674 Celf2 CUGBP Elav-like family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9016674 Celf2 CUGBP Elav-like family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68488 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28319090 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:0060500 drug allergy ISO RGD:1350065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16839402|PMID:18534082|PMID:20485159 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:0080600 COVID-19 ISO RGD:1350065 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1350065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:1059 intellectual disability ISO RGD:1350065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G PMID:8817330|REF_RGD_ID:1599903 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:SNP: : -109C>T (human) PMID:19862939|REF_RGD_ID:5131092 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:SNPs: : rs556917, rs502581, rs502419 (human) PMID:21320344|REF_RGD_ID:5131149 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:2841 asthma susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:SNPs:multiple:, rs573790, rs2583476, rs569108 PMID:19218813|REF_RGD_ID:5131151 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:3310 atopic dermatitis susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G PMID:8817330|REF_RGD_ID:1599903 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:4483 rhinitis ISO RGD:1350065 D RGD:9068941 20200609 RGD PMID:15480314|REF_RGD_ID:5131152 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:630 genetic disease ISO RGD:1350065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:9000772 Bronchial Hyperreactivity susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS: E237G (human) PMID:17430357|REF_RGD_ID:5131116 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:9002850 Immediate Hypersensitivity ISO RGD:1350065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:9002850 Immediate Hypersensitivity susceptibility ISO RGD:1350065 D RGD:9068941 20200609 RGD Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G PMID:8817330|REF_RGD_ID:1599903 9016725 Ms4a2 membrane spanning 4-domains A2 gene DOID:9003157 Respiratory Sounds ISO RGD:1350065 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS: E237G (human) PMID:18269668|REF_RGD_ID:5131102 9016750 Angel2 angel homolog 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1601837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9016750 Angel2 angel homolog 2 gene DOID:630 genetic disease ISO RGD:1601837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016750 Angel2 angel homolog 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1601837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9016772 CLDN1 claudin 1 gene DOID:3310 atopic dermatitis ISO RGD:68626 D RGD:9068941 20200609 RGD DNA:SNPs:intron,promoter :rs17501010,rs9290927,rs893051,rs9290929,rs16865373(human) PMID:21163515|REF_RGD_ID:11344875 9016772 Cldn1 claudin 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:68422 D RGD:9068941 20200609 RGD mRNA:increased expression:distal colon (rat) PMID:31189495|REF_RGD_ID:26884351 9016772 Cldn1 claudin 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:68626 D RGD:9068941 20200609 RGD mRNA:increased expression:distal colon (rat) PMID:31189495|REF_RGD_ID:26884351 9016772 Cldn1 claudin 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:68627 D RGD:9068941 20200609 RGD mRNA:increased expression:distal colon (rat) PMID:31189495|REF_RGD_ID:26884351 9016772 Cldn1 claudin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:68626 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 9016772 Cldn1 claudin 1 gene DOID:2773 contact dermatitis ISO RGD:68626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23136956 9016772 Cldn1 claudin 1 gene DOID:289 endometriosis ISO RGD:68626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 9016772 Cldn1 claudin 1 gene DOID:5082 liver cirrhosis severity ISO RGD:68422 D RGD:9068941 20200609 RGD associated with hepatitis C, Chronic;mRNA,protein:increased expression:liver (human) PMID:21620107|REF_RGD_ID:26884347 9016772 Cldn1 claudin 1 gene DOID:5082 liver cirrhosis severity ISO RGD:68626 D RGD:9068941 20200609 RGD associated with hepatitis C, Chronic;mRNA,protein:increased expression:liver (human) PMID:21620107|REF_RGD_ID:26884347 9016772 Cldn1 claudin 1 gene DOID:5082 liver cirrhosis severity ISO RGD:68627 D RGD:9068941 20200609 RGD associated with hepatitis C, Chronic;mRNA,protein:increased expression:liver (human) PMID:21620107|REF_RGD_ID:26884347 9016772 Cldn1 claudin 1 gene DOID:5419 schizophrenia ISO RGD:68626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9016772 Cldn1 claudin 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:68626 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 9016772 Cldn1 claudin 1 gene DOID:630 genetic disease ISO RGD:68626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016772 Cldn1 claudin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68422 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:liver (human) PMID:24696415|REF_RGD_ID:26884352 9016772 Cldn1 claudin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68626 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:liver (human) PMID:24696415|REF_RGD_ID:26884352 9016772 Cldn1 claudin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:68627 D RGD:9068941 20200609 RGD associated with liver cirrhosis;protein:increased expression:liver (human) PMID:24696415|REF_RGD_ID:26884352 9016772 Cldn1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68422 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:17270214|REF_RGD_ID:26884348 9016772 Cldn1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68422 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:24815833|REF_RGD_ID:26884345 9016772 Cldn1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68626 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:17270214|REF_RGD_ID:26884348 9016772 Cldn1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68626 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:24815833|REF_RGD_ID:26884345 9016772 Cldn1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68627 D RGD:9068941 20200609 RGD protein:decreased expression:liver (human) PMID:17270214|REF_RGD_ID:26884348 9016772 Cldn1 claudin 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:68627 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:24815833|REF_RGD_ID:26884345 9016772 Cldn1 claudin 1 gene DOID:687 hepatoblastoma severity ISO RGD:68422 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver, embryonic tissue (human) PMID:16647953|REF_RGD_ID:26884349 9016772 Cldn1 claudin 1 gene DOID:687 hepatoblastoma severity ISO RGD:68626 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver, embryonic tissue (human) PMID:16647953|REF_RGD_ID:26884349 9016772 Cldn1 claudin 1 gene DOID:687 hepatoblastoma severity ISO RGD:68627 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver, embryonic tissue (human) PMID:16647953|REF_RGD_ID:26884349 9016772 Cldn1 claudin 1 gene DOID:824 periodontitis ISO RGD:68422 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:epithelium: PMID:22092031|REF_RGD_ID:11344891 9016772 Cldn1 claudin 1 gene DOID:8778 Crohn's disease ISO RGD:68626 D RGD:9068941 20200609 RGD PMID:21748286|REF_RGD_ID:11341809 9016772 Cldn1 claudin 1 gene DOID:8947 diabetic retinopathy treatment ISO RGD:68422 D RGD:9068941 20200609 RGD PMID:25685822|REF_RGD_ID:11341734 9016772 Cldn1 claudin 1 gene DOID:9000081 Lymphatic Metastasis ISO RGD:68626 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 9016772 Cldn1 claudin 1 gene DOID:9001620 Leukoaraiosis ISO RGD:68626 D RGD:9068941 20200609 RGD DNA:SNPs: :rs17501010, rs893051,rs9290927(human) PMID:25956626|REF_RGD_ID:11344876 9016772 Cldn1 claudin 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68422 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:21412800|REF_RGD_ID:26884350 9016772 Cldn1 claudin 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68626 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:21412800|REF_RGD_ID:26884350 9016772 Cldn1 claudin 1 gene DOID:9004017 Chronic Hepatitis C ISO RGD:68627 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:21412800|REF_RGD_ID:26884350 9016772 Cldn1 claudin 1 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:68626 D RGD:9068941 20200609 RGD associated with intravenous substance abuse;DNA:SNP:promoter, intron:multiple mutations PMID:19674288|REF_RGD_ID:25330352 9016772 Cldn1 claudin 1 gene DOID:9007364 Mouth Neoplasms ISO RGD:68626 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:33665778 9016772 Cldn1 claudin 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:68626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025 9016772 Cldn1 claudin 1 gene DOID:9007711 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ISO RGD:68626 D RGD:7240710 20180130 OMIM 9016772 Cldn1 claudin 1 gene DOID:9007711 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ISO RGD:68626 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome PMID:12164927|PMID:15521008|PMID:16619213|PMID:25741868|PMID:28492532 9016772 Cldn1 claudin 1 gene DOID:9007730 Burns ISO RGD:68422 D RGD:9068941 20200609 RGD associated with Binge Drinking;protein: decreased tyrosine phosphorylation:intestine mucosa" PMID:22001439|REF_RGD_ID:8655996 9016772 Cldn1 claudin 1 gene DOID:9007755 Intestinal Reperfusion Injury ISO RGD:68422 D RGD:9068941 20200609 RGD protein:decreased expression:colon: PMID:19929946|REF_RGD_ID:2325127 9016772 Cldn1 claudin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:68626 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579870|PMID:24014025 9016772 Cldn1 claudin 1 gene DOID:9778 irritable bowel syndrome ISO RGD:68626 D RGD:9068941 20200609 RGD protein:decreased expression:intestine: PMID:25277410|REF_RGD_ID:11344877 9016780 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:1318234 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition PMID:11317351|PMID:11854170|PMID:12039988|PMID:15338398|PMID:15906409|PMID:18436095|PMID:18503012|PMID:19406966|PMID:20172850|PMID:20507940|PMID:22584503|PMID:23949594|PMID:25741868|PMID:26467025|PMID:27594755|PMID:28117080|PMID:28476686|PMID:28492532|PMID:29127259|PMID:30963316|PMID:31216994|PMID:33893808|PMID:9660941|PMID:9915943 9016780 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1318234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 9016780 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1318234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9016780 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:1184 nephrotic syndrome ISO RGD:1318234 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:11317351|PMID:11854170|PMID:12039988|PMID:18503012|PMID:20507940|PMID:22584503|PMID:25741868|PMID:28492532|PMID:29127259|PMID:30963316 9016780 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1318234 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:19406966|PMID:25741868|PMID:26467025|PMID:28492532 9016780 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:1826 epilepsy ISO RGD:1318234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868 9016780 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:2590 familial nephrotic syndrome ISO RGD:1318234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome PMID:18436095|PMID:19406966|PMID:25741868|PMID:26467025|PMID:28117080|PMID:28476686|PMID:28492532|PMID:31216994 9016780 Kirrel2 kirre like nephrin family adhesion molecule 2 gene DOID:630 genetic disease ISO RGD:1318234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:0111590 Cohen syndrome ISO RGD:736756 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:10763 hypertension treatment ISO RGD:3980 D RGD:9068941 20200609 RGD PMID:22984478|REF_RGD_ID:9587480 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:11832 visual epilepsy ISO RGD:3980 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:16981892|REF_RGD_ID:1625714 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:1825 childhood absence epilepsy ISO RGD:3980 D RGD:9068941 20200609 RGD protein:increased expression:parietal lobe PMID:21310218|REF_RGD_ID:9587483 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:305 carcinoma ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:5419 schizophrenia ISO RGD:11498 D RGD:9068941 20220825 MouseDO OMIM:181500 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:684 hepatocellular carcinoma severity ISO RGD:736756 D RGD:9068941 20200609 RGD PMID:27811373|REF_RGD_ID:14700875 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736756 D RGD:8554872 20230905 ClinVar ClinVar Annotator: match by term: YWHAZ-related neurodevelopmental syndrome PMID:25741868|PMID:31024343 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16849584 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736756 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9016806 Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta gene DOID:9007993 Dehydration ISO RGD:3980 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:supraoptic nucleus, pituitary PMID:17927670|REF_RGD_ID:9587478 9016817 Neurog3 neurogenin 3 gene DOID:0060779 congenital malabsorptive diarrhea 4 ISO RGD:1344822 D RGD:7240710 20180130 OMIM 9016817 Neurog3 neurogenin 3 gene DOID:0060779 congenital malabsorptive diarrhea 4 ISO RGD:1344822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4 | ClinVar Annotator: match by term: ENTERIC ANENDOCRINOSIS PMID:16855267|PMID:24033266|PMID:25741868|PMID:26541772|PMID:28492532|PMID:31178402|PMID:31805014 9016817 Neurog3 neurogenin 3 gene DOID:10603 glucose intolerance susceptibility ISO RGD:1344822 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.S199F PMID:15277395|REF_RGD_ID:1601481 9016817 Neurog3 neurogenin 3 gene DOID:4195 hyperglycemia ISO RGD:1552201 D RGD:9068941 20240111 RGD associated with Diabetes Mellitus, Experimental PMID:17239820|REF_RGD_ID:1642077 9016817 Neurog3 neurogenin 3 gene DOID:630 genetic disease ISO RGD:1344822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9016817 Neurog3 neurogenin 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552201 D RGD:9068941 20200609 RGD PMID:19819964|REF_RGD_ID:2313774 9016817 Neurog3 neurogenin 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1344822 D RGD:9068941 20200609 RGD PMID:17146417|REF_RGD_ID:2313775 9016850 Znf473 zinc finger protein 473 gene DOID:3007 breast ductal carcinoma ISO RGD:1352232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 9016850 Znf473 zinc finger protein 473 gene DOID:630 genetic disease ISO RGD:1352232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016868 Kdm3b lysine demethylase 3B gene DOID:0060041 autism spectrum disorder ISO RGD:1343523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9016868 Kdm3b lysine demethylase 3B gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 9016868 Kdm3b lysine demethylase 3B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343523 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9016868 Kdm3b lysine demethylase 3B gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1343523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 9016868 Kdm3b lysine demethylase 3B gene DOID:11832 visual epilepsy ISO RGD:1583423 D RGD:9068941 20200609 RGD PMID:24397026|REF_RGD_ID:9590119 9016868 Kdm3b lysine demethylase 3B gene DOID:1612 breast cancer severity ISO RGD:1343523 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:23266085|REF_RGD_ID:9586731 9016868 Kdm3b lysine demethylase 3B gene DOID:1826 epilepsy ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rare genetic epilepsy PMID:25741868 9016868 Kdm3b lysine demethylase 3B gene DOID:2030 anxiety disorder ISO RGD:1583423 D RGD:9068941 20200609 RGD PMID:24397026|REF_RGD_ID:9590119 9016868 Kdm3b lysine demethylase 3B gene DOID:3908 lung non-small cell carcinoma ISO RGD:1343523 D RGD:9068941 20200609 RGD DNA:amplification:lung, peripheral blood mononuclear cell (human) PMID:18975135|REF_RGD_ID:9586737 9016868 Kdm3b lysine demethylase 3B gene DOID:630 genetic disease ISO RGD:1343523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:30929739 9016868 Kdm3b lysine demethylase 3B gene DOID:9000659 Heavy Metal Toxicity ISO RGD:1343523 D RGD:9068941 20210312 CTD CTD Direct Evidence: therapeutic PMID:21262293 9016868 Kdm3b lysine demethylase 3B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9016868 Kdm3b lysine demethylase 3B gene DOID:9005801 Diets-Jongmans Syndrome ISO RGD:1343523 D RGD:7240710 20200624 OMIM 9016868 Kdm3b lysine demethylase 3B gene DOID:9005801 Diets-Jongmans Syndrome ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diets-Jongmans syndrome PMID:25741868|PMID:29351919|PMID:30929739 9016868 Kdm3b lysine demethylase 3B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343523 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9016868 Kdm3b lysine demethylase 3B gene DOID:9008086 Developmental Disabilities ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9016868 Kdm3b lysine demethylase 3B gene DOID:9008582 Developmental Disease ISO RGD:1343523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9016868 Kdm3b lysine demethylase 3B gene DOID:9256 colorectal cancer severity ISO RGD:1343523 D RGD:9068941 20200609 RGD protein:decreased expression:colon mucosa (human) PMID:22345654|REF_RGD_ID:9586735 9016868 Kdm3b lysine demethylase 3B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1343523 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, mononuclear cell (human) PMID:22615488|REF_RGD_ID:9586728 9016895 Exosc8 exosome component 8 gene DOID:0050952 spastic ataxia ISO RGD:1314633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 9016895 Exosc8 exosome component 8 gene DOID:0112334 pontocerebellar hypoplasia type 1C ISO RGD:1314633 D RGD:7240710 20180130 OMIM 9016895 Exosc8 exosome component 8 gene DOID:0112334 pontocerebellar hypoplasia type 1C ISO RGD:1314633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1C PMID:24989451|PMID:25741868|PMID:28492532 9016895 Exosc8 exosome component 8 gene DOID:630 genetic disease ISO RGD:1314633 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9016915 LEP leptin gene DOID:0050741 alcohol dependence ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:29912265|REF_RGD_ID:21201248 9016915 Lep leptin gene DOID:0050741 alcohol dependence ISO RGD:3000 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:29912265|REF_RGD_ID:21201248 9016915 Lep leptin gene DOID:0050741 alcohol dependence ISO RGD:69124 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:29912265|REF_RGD_ID:21201248 9016915 Lep leptin gene DOID:0050848 obstructive sleep apnea ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:18606530|REF_RGD_ID:5128817 9016915 Lep leptin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69123 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 9016915 Lep leptin gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:69124 D RGD:9068941 20220825 MouseDO 9016915 Lep leptin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:3000 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) PMID:20476641|REF_RGD_ID:25330346 9016915 Lep leptin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:3000 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;protein:increased expression:serum (human) PMID:30052309|REF_RGD_ID:25330349 9016915 Lep leptin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 9016915 Lep leptin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69123 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) PMID:20476641|REF_RGD_ID:25330346 9016915 Lep leptin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69123 D RGD:9068941 20200609 RGD associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma PMID:18713300|REF_RGD_ID:2311137 9016915 Lep leptin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69123 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;protein:increased expression:serum (human) PMID:30052309|REF_RGD_ID:25330349 9016915 Lep leptin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69124 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human) PMID:20476641|REF_RGD_ID:25330346 9016915 Lep leptin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69124 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus;protein:increased expression:serum (human) PMID:30052309|REF_RGD_ID:25330349 9016915 Lep leptin gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69124 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 9016915 Lep leptin gene DOID:0111334 congenital leptin deficiency ISO RGD:69123 D RGD:7240710 20180130 OMIM 9016915 Lep leptin gene DOID:0111334 congenital leptin deficiency ISO RGD:69123 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency PMID:12393845|PMID:15070752|PMID:15472169|PMID:15937081|PMID:20140086|PMID:25551525|PMID:25741868|PMID:28209183|PMID:28377240|PMID:28492532|PMID:37314706|PMID:9202122|PMID:9500540|PMID:9745435 9016915 Lep leptin gene DOID:10591 pre-eclampsia ISO RGD:3000 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16021089|REF_RGD_ID:5128718 9016915 Lep leptin gene DOID:10603 glucose intolerance ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22948215|REF_RGD_ID:12904911 9016915 Lep leptin gene DOID:10603 glucose intolerance ISO RGD:69123 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:21315688|PMID:24150608|PMID:29650965 9016915 Lep leptin gene DOID:10605 short bowel syndrome ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:19730157|REF_RGD_ID:5128624 9016915 Lep leptin gene DOID:10652 Alzheimer's disease ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20157255 9016915 Lep leptin gene DOID:10652 Alzheimer's disease ISO RGD:69123 D RGD:9068941 20200609 RGD compared to cortisol;protein:altered expression:plasma (human) PMID:9755363|REF_RGD_ID:10053632 9016915 Lep leptin gene DOID:10652 Alzheimer's disease treatment ISO RGD:3000 D RGD:9068941 20200609 RGD associated with Obesity PMID:25296496|REF_RGD_ID:10053617 9016915 Lep leptin gene DOID:10763 hypertension ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:20059648|REF_RGD_ID:5128597 9016915 Lep leptin gene DOID:10763 hypertension ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12050272|PMID:16827954|PMID:25205467|PMID:27226618 9016915 Lep leptin gene DOID:10763 hypertension ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:19204185|REF_RGD_ID:5128788 9016915 Lep leptin gene DOID:10808 gastric ulcer ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10422768|PMID:11025360|PMID:11787760|PMID:15024038|PMID:16015682|PMID:18181030 9016915 Lep leptin gene DOID:11394 adult respiratory distress syndrome disease_progression ISO RGD:69123 D RGD:9068941 20200609 RGD respiratory system fluid/secretion PMID:21317313|REF_RGD_ID:5128773 9016915 Lep leptin gene DOID:11476 osteoporosis ISO RGD:3000 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:24250662|REF_RGD_ID:10053572 9016915 Lep leptin gene DOID:11476 osteoporosis ISO RGD:69123 D RGD:9068941 20200609 RGD associated with chronic obstructive pulmonary disease; protein:decreased expression:serum PMID:21376149|REF_RGD_ID:5128771 9016915 Lep leptin gene DOID:11476 osteoporosis treatment ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:12609558|REF_RGD_ID:10053615 9016915 Lep leptin gene DOID:11476 osteoporosis treatment ISO RGD:69123 D RGD:9068941 20200609 RGD human protein in a rat model PMID:11459801|REF_RGD_ID:10053630 9016915 Lep leptin gene DOID:11612 polycystic ovary syndrome ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22381227 9016915 Lep leptin gene DOID:1168 familial hyperlipidemia ISO RGD:3000 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver, adipose tissue (rat) PMID:17671736|REF_RGD_ID:10053616 9016915 Lep leptin gene DOID:11714 gestational diabetes ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 9016915 Lep leptin gene DOID:11714 gestational diabetes ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19269197|REF_RGD_ID:2311131 9016915 Lep leptin gene DOID:11981 morbid obesity ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15070752|PMID:9500540 9016915 Lep leptin gene DOID:12236 primary biliary cholangitis ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:16093869|REF_RGD_ID:10411894 9016915 Lep leptin gene DOID:12849 autistic disorder ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17347881 9016915 Lep leptin gene DOID:12858 Huntington's disease ISO RGD:3000 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:19573560|REF_RGD_ID:5128676 9016915 Lep leptin gene DOID:14018 alcoholic liver cirrhosis ISO RGD:3000 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter (human) PMID:29912265|REF_RGD_ID:21201248 9016915 Lep leptin gene DOID:14018 alcoholic liver cirrhosis ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter (human) PMID:29912265|REF_RGD_ID:21201248 9016915 Lep leptin gene DOID:14018 alcoholic liver cirrhosis ISO RGD:69124 D RGD:9068941 20200609 RGD DNA:hypomethylation:promoter (human) PMID:29912265|REF_RGD_ID:21201248 9016915 Lep leptin gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:69124 D RGD:9068941 20220825 MouseDO OMIM:605552 9016915 Lep leptin gene DOID:14330 Parkinson's disease treatment ISO RGD:3000 D RGD:9068941 20200609 RGD rat protein in a mouse model PMID:17895242|REF_RGD_ID:10053631 9016915 Lep leptin gene DOID:1485 cystic fibrosis severity ISO RGD:69123 D RGD:9068941 20200609 RGD PMID:18353734|REF_RGD_ID:5128819 9016915 Lep leptin gene DOID:1612 breast cancer ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16019138|REF_RGD_ID:8694425 9016915 Lep leptin gene DOID:1924 hypogonadism ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15070752|PMID:9500540 9016915 Lep leptin gene DOID:1924 hypogonadism treatment ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21790658|REF_RGD_ID:10053622 9016915 Lep leptin gene DOID:2018 hyperinsulinism ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22948215|REF_RGD_ID:12904911 9016915 Lep leptin gene DOID:2018 hyperinsulinism ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9826672 9016915 Lep leptin gene DOID:2048 autoimmune hepatitis ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 9016915 Lep leptin gene DOID:2841 asthma ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19705789|REF_RGD_ID:5128781 9016915 Lep leptin gene DOID:2913 acute pancreatitis ISO RGD:3000 D RGD:9068941 20200609 RGD associated with fatty liver disease; protein:increased expression:serum: PMID:26634430|REF_RGD_ID:11552763 9016915 Lep leptin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20021311|REF_RGD_ID:5128778 9016915 Lep leptin gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21367591|REF_RGD_ID:5128772 9016915 Lep leptin gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: -2548 G>A (human) PMID:20854423|REF_RGD_ID:5128777 9016915 Lep leptin gene DOID:3146 lipid metabolism disorder ISO RGD:3000 D RGD:9068941 20210924 RGD protein:increased expression:adipose tissue (rat) PMID:30550969|REF_RGD_ID:25330351 9016915 Lep leptin gene DOID:3908 lung non-small cell carcinoma ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19033693|REF_RGD_ID:5128815 9016915 Lep leptin gene DOID:4195 hyperglycemia ISO RGD:69123 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:19716478|PMID:21561152|PMID:29650965|PMID:31313498|PMID:31483951 9016915 Lep leptin gene DOID:4450 renal cell carcinoma resistance ISO RGD:69123 D RGD:9068941 20200609 RGD PMID:19278051|REF_RGD_ID:6907119 9016915 Lep leptin gene DOID:4483 rhinitis ISO RGD:69123 D RGD:9068941 20200609 RGD PMID:19860581|REF_RGD_ID:5128850 9016915 Lep leptin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9016915 Lep leptin gene DOID:5016 hepatocellular clear cell carcinoma ISO RGD:69123 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:20723213|REF_RGD_ID:14696785 9016915 Lep leptin gene DOID:576 proteinuria ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25205467 9016915 Lep leptin gene DOID:6000 congestive heart failure ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:18006469|REF_RGD_ID:5128823 9016915 Lep leptin gene DOID:630 genetic disease ISO RGD:69123 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016915 Lep leptin gene DOID:684 hepatocellular carcinoma severity ISO RGD:3000 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:18573568|REF_RGD_ID:25330348 9016915 Lep leptin gene DOID:684 hepatocellular carcinoma severity ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:18573568|REF_RGD_ID:25330348 9016915 Lep leptin gene DOID:684 hepatocellular carcinoma severity ISO RGD:69124 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:18573568|REF_RGD_ID:25330348 9016915 Lep leptin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:3000 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:-2548G>A (rs7799039) (human) PMID:28452232|REF_RGD_ID:15039399 9016915 Lep leptin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69123 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:-2548G>A (rs7799039) (human) PMID:28452232|REF_RGD_ID:15039399 9016915 Lep leptin gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:69124 D RGD:9068941 20200609 RGD DNA:SNP:enhancer:-2548G>A (rs7799039) (human) PMID:28452232|REF_RGD_ID:15039399 9016915 Lep leptin gene DOID:783 end stage renal disease ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:9294834|REF_RGD_ID:10053636 9016915 Lep leptin gene DOID:8398 osteoarthritis severity ISO RGD:69123 D RGD:9068941 20200609 RGD protein:increased expression:tibia, cartilage, chondrocyte (human) PMID:14613274|REF_RGD_ID:10053634 9016915 Lep leptin gene DOID:850 lung disease ISO RGD:69124 D RGD:9068941 20200609 RGD acute lung injury associated pancreatitis PMID:17589942|REF_RGD_ID:5128844 9016915 Lep leptin gene DOID:874 bacterial pneumonia ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:11937559|REF_RGD_ID:5128871 9016915 Lep leptin gene DOID:8778 Crohn's disease ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 9016915 Lep leptin gene DOID:9000039 Spinal Cord Injuries ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:19777863|REF_RGD_ID:5128780 9016915 Lep leptin gene DOID:9000808 Hypercholesterolemia ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22948215|REF_RGD_ID:12904911 9016915 Lep leptin gene DOID:9000808 Hypercholesterolemia ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086370 9016915 Lep leptin gene DOID:9000998 Brain Injuries ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21276361|REF_RGD_ID:5128517 9016915 Lep leptin gene DOID:9001044 Choroidal Neovascularization ISO RGD:3000 D RGD:9068941 20200609 RGD associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat) PMID:25380250|REF_RGD_ID:10053625 9016915 Lep leptin gene DOID:9001443 Hypercapnia ISO RGD:69123 D RGD:9068941 20200609 RGD associated with obesity PMID:11809994|REF_RGD_ID:5128875 9016915 Lep leptin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:20509998|REF_RGD_ID:5128589 9016915 Lep leptin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12586293|PMID:16097051|PMID:29248466 9016915 Lep leptin gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:19065677|REF_RGD_ID:5128713 9016915 Lep leptin gene DOID:9001981 Weight Loss ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27417254 9016915 Lep leptin gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:17822444|REF_RGD_ID:5128869 9016915 Lep leptin gene DOID:9002165 Diabetic Nephropathies ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:22773754|REF_RGD_ID:6907074 9016915 Lep leptin gene DOID:9002221 Hyperplasia ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27712037 9016915 Lep leptin gene DOID:9002231 Fetal Growth Retardation ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21353474|REF_RGD_ID:5128507 9016915 Lep leptin gene DOID:9002304 Prostatic Neoplasms ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15042602 9016915 Lep leptin gene DOID:9002331 Knee Osteoarthritis ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum: PMID:23575542|REF_RGD_ID:10411887 9016915 Lep leptin gene DOID:9002457 Experimental Arthritis ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15142272 9016915 Lep leptin gene DOID:9002554 Tachycardia ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16827954 9016915 Lep leptin gene DOID:9002916 Hyperphagia ISO RGD:69123 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12177191|PMID:25086370|PMID:26186301|PMID:27071101 9016915 Lep leptin gene DOID:9002928 Colonic Neoplasms ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17354198 9016915 Lep leptin gene DOID:9002955 Nerve Degeneration ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17993459 9016915 Lep leptin gene DOID:9003287 Body Weight Changes ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21328617|REF_RGD_ID:5128513 9016915 Lep leptin gene DOID:9003370 Dyslipidemias ISO RGD:3000 D RGD:9068941 20200609 RGD protein:altered expression: serum (rat) PMID:29089335|REF_RGD_ID:21410183 9016915 Lep leptin gene DOID:9003370 Dyslipidemias ISO RGD:69123 D RGD:9068941 20200609 RGD protein:altered expression: serum (rat) PMID:29089335|REF_RGD_ID:21410183 9016915 Lep leptin gene DOID:9003370 Dyslipidemias ISO RGD:69124 D RGD:9068941 20200609 RGD protein:altered expression: serum (rat) PMID:29089335|REF_RGD_ID:21410183 9016915 Lep leptin gene DOID:9003671 Hypoventilation ISO RGD:69123 D RGD:9068941 20200609 RGD Obesity Hypoventilation Syndrome PMID:16179823|REF_RGD_ID:5128870 9016915 Lep leptin gene DOID:9004009 Reperfusion Injury ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21086559|REF_RGD_ID:5128549 9016915 Lep leptin gene DOID:9004017 Chronic Hepatitis C ISO RGD:3000 D RGD:9068941 20200609 RGD protein:altered localization:serum (human) PMID:11336170|REF_RGD_ID:21201249 9016915 Lep leptin gene DOID:9004017 Chronic Hepatitis C ISO RGD:69123 D RGD:9068941 20200609 RGD protein:altered localization:serum (human) PMID:11336170|REF_RGD_ID:21201249 9016915 Lep leptin gene DOID:9004017 Chronic Hepatitis C ISO RGD:69124 D RGD:9068941 20200609 RGD protein:altered localization:serum (human) PMID:11336170|REF_RGD_ID:21201249 9016915 Lep leptin gene DOID:9004484 Sepsis ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:18575315|REF_RGD_ID:5128818 9016915 Lep leptin gene DOID:9004657 Weight Gain ISO RGD:69123 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15070752|PMID:15809509|PMID:17502770|PMID:19716478|PMID:21561152|PMID:25086370|PMID:27472835|PMID:29967158 9016915 Lep leptin gene DOID:9005005 Oral Ulcer ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16391412 9016915 Lep leptin gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22246620|REF_RGD_ID:8694468 9016915 Lep leptin gene DOID:9005274 Polyuria ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086370 9016915 Lep leptin gene DOID:9005369 Hepatomegaly ISO RGD:69123 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:19716478|PMID:27071101 9016915 Lep leptin gene DOID:9005372 Inflammation ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:14599722|PMID:27712037 9016915 Lep leptin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:19491210|REF_RGD_ID:2311124 9016915 Lep leptin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69123 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:28242381|PMID:31313498|PMID:31483951 9016915 Lep leptin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69124 D RGD:9068941 20200609 RGD PMID:19428774|REF_RGD_ID:2311126 9016915 Lep leptin gene DOID:9005643 Experimental Diabetes Mellitus onset ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:20695765|REF_RGD_ID:5128579 9016915 Lep leptin gene DOID:9006223 Kidney Reperfusion Injury resistance ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22969992|REF_RGD_ID:6909133 9016915 Lep leptin gene DOID:9006599 Hypertriglyceridemia ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:22948215|REF_RGD_ID:12904911 9016915 Lep leptin gene DOID:9006646 Metabolic Syndrome ISO RGD:3000 D RGD:9068941 20200609 RGD protein:increased expression:plasma (rat) PMID:25380250|REF_RGD_ID:10053625 9016915 Lep leptin gene DOID:9006646 Metabolic Syndrome ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16793964|PMID:18515891 9016915 Lep leptin gene DOID:9006646 Metabolic Syndrome ISO RGD:69123 D RGD:9068941 20200609 RGD PMID:19462476|REF_RGD_ID:2311125 9016915 Lep leptin gene DOID:9006727 Polydipsia ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25086370 9016915 Lep leptin gene DOID:9007456 Female Infertility ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 9016915 Lep leptin gene DOID:9007692 Insulin Resistance ISO RGD:3000 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds: PMID:23800849|REF_RGD_ID:8549777 9016915 Lep leptin gene DOID:9007692 Insulin Resistance ISO RGD:3000 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19296906|REF_RGD_ID:5128697 9016915 Lep leptin gene DOID:9007692 Insulin Resistance ISO RGD:69123 D RGD:9068941 20200609 RGD associated with Obesity PMID:19419916|REF_RGD_ID:2311127 9016915 Lep leptin gene DOID:9007692 Insulin Resistance ISO RGD:69123 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10753628|PMID:11342529|PMID:24150608|PMID:29650965 9016915 Lep leptin gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21122204|REF_RGD_ID:5128547 9016915 Lep leptin gene DOID:9007996 End Stage Liver Disease ISO RGD:3000 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:9640405|REF_RGD_ID:25330350 9016915 Lep leptin gene DOID:9007996 End Stage Liver Disease ISO RGD:69123 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:9640405|REF_RGD_ID:25330350 9016915 Lep leptin gene DOID:9007996 End Stage Liver Disease ISO RGD:69124 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:9640405|REF_RGD_ID:25330350 9016915 Lep leptin gene DOID:9008763 Femoral Fractures ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:21276361|REF_RGD_ID:5128517 9016915 Lep leptin gene DOID:9008939 Breast Neoplasms ISO RGD:69123 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:21353530|PMID:35191604 9016915 Lep leptin gene DOID:9351 diabetes mellitus ISO RGD:69123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 9016915 Lep leptin gene DOID:9352 type 2 diabetes mellitus ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:19289493|REF_RGD_ID:2311130 9016915 Lep leptin gene DOID:9352 type 2 diabetes mellitus ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15070752 9016915 Lep leptin gene DOID:9352 type 2 diabetes mellitus ISO RGD:69124 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 9016915 Lep leptin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69123 D RGD:9068941 20200806 RGD DNA:SNP,haplotype:promoter,3'utr: -632G>A, +4998A>C (human) PMID:18564365|REF_RGD_ID:2311139 9016915 Lep leptin gene DOID:9452 steatotic liver disease ISO RGD:69123 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:12661780|PMID:19716478|PMID:24525044|PMID:25554529|PMID:27071101|PMID:27712037 9016915 Lep leptin gene DOID:9452 steatotic liver disease ISO RGD:69124 D RGD:9068941 20220825 MouseDO OMIM:228100 9016915 Lep leptin gene DOID:9452 steatotic liver disease severity ISO RGD:3000 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:decreased exprssion:serum (human) PMID:28281237|REF_RGD_ID:21201250 9016915 Lep leptin gene DOID:9452 steatotic liver disease severity ISO RGD:69123 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:decreased exprssion:serum (human) PMID:28281237|REF_RGD_ID:21201250 9016915 Lep leptin gene DOID:9452 steatotic liver disease severity ISO RGD:69124 D RGD:9068941 20200609 RGD associated with morbid obesity;protein:decreased exprssion:serum (human) PMID:28281237|REF_RGD_ID:21201250 9016915 Lep leptin gene DOID:9970 obesity ISO RGD:69123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency PMID:25741868|PMID:28492532 9016915 Lep leptin gene DOID:9970 obesity no_association ISO RGD:69123 D RGD:9068941 20200609 RGD in a US Caucasian population PMID:15910756|REF_RGD_ID:1643130 9016915 Lep leptin gene DOID:9970 obesity treatment ISO RGD:3000 D RGD:9068941 20200609 RGD PMID:23793169|REF_RGD_ID:10053638 9016915 Lep leptin gene DOID:9970 obesity treatment ISO RGD:69124 D RGD:9068941 20200609 RGD mouse protein in a rat model PMID:10029567|REF_RGD_ID:10053612 9016915 Lep leptin gene DOID:9976 heroin dependence ISO RGD:69123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15717844 9016921 Cpo carboxypeptidase O gene DOID:14557 primary pulmonary hypertension ISO RGD:1342793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 9016921 Cpo carboxypeptidase O gene DOID:630 genetic disease ISO RGD:1342793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016921 Cpo carboxypeptidase O gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9016936 Dvl2 dishevelled segment polarity protein 2 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:1320220 D RGD:9068941 20220825 MouseDO 9016936 Dvl2 dishevelled segment polarity protein 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1320219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10077518|PMID:11590124|PMID:14517516|PMID:17374501|PMID:17999356|PMID:18227065|PMID:21932095|PMID:25741868|PMID:26453363|PMID:27246109|PMID:28492532|PMID:9839948|PMID:9973285 9016936 Dvl2 dishevelled segment polarity protein 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1320219 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 9016936 Dvl2 dishevelled segment polarity protein 2 gene DOID:1059 intellectual disability ISO RGD:1320219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9016936 Dvl2 dishevelled segment polarity protein 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1320219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9016936 Dvl2 dishevelled segment polarity protein 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1320219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9016936 Dvl2 dishevelled segment polarity protein 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1320219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 9016936 Dvl2 dishevelled segment polarity protein 2 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1320219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 9016936 Dvl2 dishevelled segment polarity protein 2 gene DOID:630 genetic disease ISO RGD:1320219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016964 Amot angiomotin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9016964 Amot angiomotin gene DOID:12849 autistic disorder ISO RGD:1344662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9016964 Amot angiomotin gene DOID:5419 schizophrenia ISO RGD:1344662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9016964 Amot angiomotin gene DOID:630 genetic disease ISO RGD:1344662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9016964 Amot angiomotin gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1344662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 9016964 Amot angiomotin gene DOID:9007502 Brain Neoplasms ISO RGD:1344662 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935819 9016982 Timm22 translocase of inner mitochondrial membrane 22 gene DOID:0112116 combined oxidative phosphorylation deficiency 43 ISO RGD:1345582 D RGD:7240710 20200429 OMIM 9016982 Timm22 translocase of inner mitochondrial membrane 22 gene DOID:0112116 combined oxidative phosphorylation deficiency 43 ISO RGD:1345582 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 43 PMID:22638997|PMID:25741868|PMID:30452684 9016982 Timm22 translocase of inner mitochondrial membrane 22 gene DOID:630 genetic disease ISO RGD:1345582 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9016990 Gata4 GATA binding protein 4 gene DOID:0050651 atrioventricular septal defect ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9016990 Gata4 GATA binding protein 4 gene DOID:0060224 atrial fibrillation ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 9016990 Gata4 GATA binding protein 4 gene DOID:0060770 dextro-looped transposition of the great arteries ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transposition of the great arteries PMID:12845333|PMID:25741868 9016990 Gata4 GATA binding protein 4 gene DOID:0110107 atrial heart septal defect 2 ISO RGD:737140 D RGD:7240710 20180130 OMIM 9016990 Gata4 GATA binding protein 4 gene DOID:0110107 atrial heart septal defect 2 ISO RGD:737140 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Atrial septal defect 2 PMID:12845333|PMID:15810002|PMID:15863664|PMID:17548362|PMID:17576681|PMID:17643447|PMID:18055909|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20659440|PMID:20854389|PMID:20874241|PMID:20981092|PMID:21110066|PMID:21519287|PMID:21637475|PMID:23138528|PMID:23626780|PMID:23696316|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27374936|PMID:27391137|PMID:27535533|PMID:28132688|PMID:28492532|PMID:29377543|PMID:31115957|PMID:32719394|PMID:32748548|PMID:32992319|PMID:9536098 9016990 Gata4 GATA binding protein 4 gene DOID:0111101 maturity-onset diabetes of the young type 5 ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:25741868|PMID:28492532 9016990 Gata4 GATA binding protein 4 gene DOID:0111772 46,XY sex reversal 3 ISO RGD:737140 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED PMID:17643447|PMID:18672102|PMID:19302747|PMID:19678963|PMID:21110066|PMID:21519287|PMID:22011241|PMID:24033266|PMID:25741868|PMID:26014430|PMID:26490186|PMID:26997702|PMID:27899157|PMID:28492532|PMID:29368431|PMID:32992319 9016990 Gata4 GATA binding protein 4 gene DOID:1059 intellectual disability ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9016990 Gata4 GATA binding protein 4 gene DOID:10907 microcephaly ISO RGD:737140 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:18672102|PMID:19302747|PMID:19678963|PMID:21110066|PMID:21519287|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:28492532|PMID:32992319 9016990 Gata4 GATA binding protein 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:18076106|PMID:20874241|PMID:24033266|PMID:25741868|PMID:27374936|PMID:28492532 9016990 Gata4 GATA binding protein 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532|PMID:32748548 9016990 Gata4 GATA binding protein 4 gene DOID:14004 thoracic aortic aneurysm ISO RGD:737140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:32748548 9016990 Gata4 GATA binding protein 4 gene DOID:1574 alcohol use disorder ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20585342 9016990 Gata4 GATA binding protein 4 gene DOID:1657 ventricular septal defect ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9016990 Gata4 GATA binding protein 4 gene DOID:1682 congenital heart disease ISO RGD:737140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:18055909|PMID:20347099|PMID:20981092|PMID:24000169|PMID:25741868|PMID:27426723|PMID:27535533|PMID:28492532|PMID:30152191|PMID:33116287 9016990 Gata4 GATA binding protein 4 gene DOID:1882 atrial heart septal defect ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868|PMID:28492532|PMID:30755392 9016990 Gata4 GATA binding protein 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23426975 9016990 Gata4 GATA binding protein 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737141 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 9016990 Gata4 GATA binding protein 4 gene DOID:5844 myocardial infarction ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20200331 9016990 Gata4 GATA binding protein 4 gene DOID:5844 myocardial infarction treatment ISO RGD:2665 D RGD:9068941 20200609 RGD PMID:23948075|REF_RGD_ID:7327215 9016990 Gata4 GATA binding protein 4 gene DOID:630 genetic disease ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18055909|PMID:20981092|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28798025 9016990 Gata4 GATA binding protein 4 gene DOID:6419 tetralogy of Fallot ISO RGD:737140 D RGD:7240710 20180130 OMIM 9016990 Gata4 GATA binding protein 4 gene DOID:6419 tetralogy of Fallot ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:17643447|PMID:18055909|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20874241|PMID:20981092|PMID:21110066|PMID:21519287|PMID:23626780|PMID:24000169|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27374936|PMID:27535533|PMID:28161810|PMID:28471988|PMID:28492532|PMID:29670578|PMID:30152191|PMID:31513339|PMID:32748548|PMID:32992319 9016990 Gata4 GATA binding protein 4 gene DOID:6420 pulmonary valve stenosis ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis PMID:18055909|PMID:20981092|PMID:25741868|PMID:27535533|PMID:28492532 9016990 Gata4 GATA binding protein 4 gene DOID:6432 pulmonary hypertension ISO RGD:2665 D RGD:9068941 20200609 RGD protein:increased expression:heart right ventricle PMID:21059997|REF_RGD_ID:7207053 9016990 Gata4 GATA binding protein 4 gene DOID:9003936 Cardiomegaly ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16259952|PMID:18252717 9016990 Gata4 GATA binding protein 4 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:737140 D RGD:7240710 20180130 OMIM 9016990 Gata4 GATA binding protein 4 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:737140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 1 PMID:17643447|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20874241|PMID:21110066|PMID:21519287|PMID:21631294|PMID:21637914|PMID:22101736|PMID:23626780|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27374936|PMID:28161810|PMID:28471988|PMID:28492532|PMID:29377543|PMID:29670578|PMID:31513339|PMID:32748548|PMID:32992319 9016990 Gata4 GATA binding protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9016990 Gata4 GATA binding protein 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2665 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart PMID:22293779|REF_RGD_ID:7207042 9016990 Gata4 GATA binding protein 4 gene DOID:9006205 Animal Disease Models ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 9016990 Gata4 GATA binding protein 4 gene DOID:9006760 Testicular Anomalies with or without Congenital Heart Disease ISO RGD:737140 D RGD:7240710 20180130 OMIM 9016990 Gata4 GATA binding protein 4 gene DOID:9006760 Testicular Anomalies with or without Congenital Heart Disease ISO RGD:737140 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Testicular anomalies with or without congenital heart disease PMID:15863664|PMID:17576681|PMID:17643447|PMID:18672102|PMID:19302747|PMID:19678963|PMID:20347099|PMID:20854389|PMID:20874241|PMID:21110066|PMID:21220346|PMID:21519287|PMID:21637475|PMID:23138528|PMID:23626780|PMID:23696316|PMID:24033266|PMID:25741868|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27899157|PMID:28161810|PMID:28471988|PMID:28492532|PMID:29670578|PMID:29735817|PMID:30293987|PMID:30455927|PMID:31513339|PMID:32719394|PMID:32748548|PMID:32901917|PMID:32992319|PMID:9536098 9016990 Gata4 GATA binding protein 4 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:737140 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 9016990 Gata4 GATA binding protein 4 gene DOID:9007174 Ventricular Remodeling ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 9016990 Gata4 GATA binding protein 4 gene DOID:9007396 Atrioventricular Septal Defect 4 ISO RGD:737140 D RGD:7240710 20180130 OMIM 9016990 Gata4 GATA binding protein 4 gene DOID:9007396 Atrioventricular Septal Defect 4 ISO RGD:737140 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 4 PMID:12845333|PMID:12939651|PMID:15235040|PMID:15863664|PMID:16199547|PMID:17352393|PMID:17576681|PMID:17592645|PMID:17643447|PMID:18055909|PMID:18076106|PMID:18672102|PMID:19302747|PMID:19353638|PMID:19678963|PMID:19915893|PMID:20347099|PMID:20450724|PMID:20659440|PMID:20854389|PMID:2087424|PMID:20874241|PMID:20981092|PMID:21055141|PMID:21110066|PMID:21220346|PMID:21276881|PMID:21373748|PMID:21519287|PMID:21631294|PMID:21637475|PMID:21834050|PMID:21933911|PMID:22011241|PMID:22318994|PMID:22498567|PMID:22552926|PMID:22648249|PMID:23138528|PMID:23239632|PMID:23626780|PMID:23696316|PMID:24033266|PMID:24127225|PMID:24696446|PMID:25205790|PMID:25516202|PMID:25741868|PMID:26014430|PMID:26490186|PMID:26997702|PMID:27139165|PMID:27374936|PMID:27391137|PMID:27418595|PMID:27426723|PMID:27535533|PMID:27810688|PMID:27899157|PMID:28132688|PMID:28161810|PMID:28263493|PMID:28471988|PMID:28492532|PMID:28798025|PMID:28986455|PMID:29368431|PMID:29377543|PMID:29670578|PMID:29735817|PMID:29874181|PMID:30152191|PMID:30293987|PMID:30455927|PMID:30755392|PMID:31322791|PMID:31513339|PMID:32719394|PMID:32748548|PMID:32901917|PMID:32992319|PMID:33142350|PMID:33865372|PMID:35063694|PMID:9536098 9016990 Gata4 GATA binding protein 4 gene DOID:9008217 Hemorrhage ISO RGD:737140 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31190750 9016990 Gata4 GATA binding protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19509152 9016990 Gata4 GATA binding protein 4 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737140 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18280291 9016990 Gata4 GATA binding protein 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737140 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus PMID:20854389|PMID:24033266|PMID:24696446|PMID:25741868|PMID:27810688|PMID:28492532|PMID:33865372 9017004 Klhl6 kelch like family member 6 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1316764 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 9017004 Klhl6 kelch like family member 6 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1316764 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 9017004 Klhl6 kelch like family member 6 gene DOID:0111546 Currarino syndrome ISO RGD:1316764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 9017004 Klhl6 kelch like family member 6 gene DOID:2377 multiple sclerosis ISO RGD:1316764 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 9017004 Klhl6 kelch like family member 6 gene DOID:630 genetic disease ISO RGD:1316764 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017004 Klhl6 kelch like family member 6 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1316764 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 9017016 Itgbl1 integrin subunit beta like 1 gene DOID:0050976 spinocerebellar ataxia type 27 ISO RGD:1348863 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 PMID:25741868 9017016 Itgbl1 integrin subunit beta like 1 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1348863 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 9017016 Itgbl1 integrin subunit beta like 1 gene DOID:14701 propionic acidemia ISO RGD:1348863 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 9017016 Itgbl1 integrin subunit beta like 1 gene DOID:630 genetic disease ISO RGD:1348863 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017016 Itgbl1 integrin subunit beta like 1 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1348863 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9017035 Gabrr1 gamma-aminobutyric acid type A receptor subunit rho1 gene DOID:630 genetic disease ISO RGD:1346666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1345164 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:3755 antithrombin III deficiency ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:5844 myocardial infarction ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:5844 myocardial infarction ISO RGD:1345164 D RGD:9068941 20200609 RGD PMID:15750594|REF_RGD_ID:1580396 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1345164 D RGD:7240710 20190502 OMIM 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:630 genetic disease ISO RGD:1345164 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:820 myocarditis ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:9065 leishmaniasis ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10637281 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18059267|PMID:19838193 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345164 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:934 viral infectious disease ISO RGD:1345164 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 9017060 Tnfsf4 TNF superfamily member 4 gene DOID:9744 type 1 diabetes mellitus ISO RGD:733125 D RGD:9068941 20220825 MouseDO OMIM:222100 9017066 Mfsd10 major facilitator superfamily domain containing 10 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1604055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 9017066 Mfsd10 major facilitator superfamily domain containing 10 gene DOID:1856 cherubism ISO RGD:1604055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 9017066 Mfsd10 major facilitator superfamily domain containing 10 gene DOID:630 genetic disease ISO RGD:1604055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017082 Pabpn1l PABPN1 like, cytoplasmic gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:3078328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 9017082 Pabpn1l PABPN1 like, cytoplasmic gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:3078328 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 9017082 Pabpn1l PABPN1 like, cytoplasmic gene DOID:14780 KBG syndrome ISO RGD:3078328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 9017082 Pabpn1l PABPN1 like, cytoplasmic gene DOID:630 genetic disease ISO RGD:3078328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017082 Pabpn1l PABPN1 like, cytoplasmic gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:3078328 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 9017096 Gpr85 G protein-coupled receptor 85 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9017096 Gpr85 G protein-coupled receptor 85 gene DOID:630 genetic disease ISO RGD:736296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017096 Gpr85 G protein-coupled receptor 85 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9017125 Matk megakaryocyte-associated tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:69108 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9017125 Matk megakaryocyte-associated tyrosine kinase gene DOID:13938 amenorrhea ISO RGD:69108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9017125 Matk megakaryocyte-associated tyrosine kinase gene DOID:630 genetic disease ISO RGD:69108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017157 Syde1 synapse defective Rho GTPase homolog 1 gene DOID:630 genetic disease ISO RGD:1602201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017189 Flywch1 FLYWCH-type zinc finger 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1346259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9017189 Flywch1 FLYWCH-type zinc finger 1 gene DOID:1826 epilepsy ISO RGD:1346259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9017189 Flywch1 FLYWCH-type zinc finger 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346259 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9017189 Flywch1 FLYWCH-type zinc finger 1 gene DOID:630 genetic disease ISO RGD:1346259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017220 Smad5 SMAD family member 5 gene DOID:0060001 withdrawal disorder ISO RGD:1349958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 9017220 Smad5 SMAD family member 5 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1349958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9017220 Smad5 SMAD family member 5 gene DOID:2999 granulosa cell tumor ISO RGD:1550273 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 9017220 Smad5 SMAD family member 5 gene DOID:630 genetic disease ISO RGD:1349958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017220 Smad5 SMAD family member 5 gene DOID:9004207 Testicular Neoplasms ISO RGD:1550273 D RGD:9068941 20200609 RGD PMID:17967875|REF_RGD_ID:2299978 9017220 Smad5 SMAD family member 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9017220 Smad5 SMAD family member 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1349958 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30158054 9017220 Smad5 SMAD family member 5 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1349958 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9017220 Smad5 SMAD family member 5 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349958 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20079400 9017232 Psmb1 proteasome 20S subunit beta 1 gene DOID:13938 amenorrhea ISO RGD:733154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9017232 Psmb1 proteasome 20S subunit beta 1 gene DOID:574 peripheral nervous system disease ISO RGD:733154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21228734 9017232 Psmb1 proteasome 20S subunit beta 1 gene DOID:630 genetic disease ISO RGD:733154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017232 Psmb1 proteasome 20S subunit beta 1 gene DOID:8398 osteoarthritis ISO RGD:733154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 9017232 Psmb1 proteasome 20S subunit beta 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:733154 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 9017232 Psmb1 proteasome 20S subunit beta 1 gene DOID:9002730 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE ISO RGD:733154 D RGD:7240710 20221221 OMIM 9017232 Psmb1 proteasome 20S subunit beta 1 gene DOID:9002730 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE ISO RGD:733154 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language PMID:32129449 9017252 Ptpra protein tyrosine phosphatase receptor type A gene DOID:0090103 Huntington's disease-like 1 ISO RGD:736543 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 9017252 Ptpra protein tyrosine phosphatase receptor type A gene DOID:3717 gastric adenocarcinoma ISO RGD:736543 D RGD:9068941 20220304 RGD associated with metastasis; protein:increased expression:gastric mucosa (human) PMID:16338072|REF_RGD_ID:151660348 9017252 Ptpra protein tyrosine phosphatase receptor type A gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:736543 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 9017252 Ptpra protein tyrosine phosphatase receptor type A gene DOID:630 genetic disease ISO RGD:736543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017252 Ptpra protein tyrosine phosphatase receptor type A gene DOID:9007102 Myocardial Ischemia ISO RGD:736543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9017252 Ptpra protein tyrosine phosphatase receptor type A gene DOID:9008352 Dystonia 30 ISO RGD:736543 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dystonia 30 PMID:25741868 9017327 Glmp glycosylated lysosomal membrane protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 9017327 Glmp glycosylated lysosomal membrane protein gene DOID:0080600 COVID-19 ISO RGD:1602078 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9017327 Glmp glycosylated lysosomal membrane protein gene DOID:0111940 immunodeficiency 42 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9017327 Glmp glycosylated lysosomal membrane protein gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9017327 Glmp glycosylated lysosomal membrane protein gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1602078 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9017327 Glmp glycosylated lysosomal membrane protein gene DOID:1540 parathyroid carcinoma ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9017327 Glmp glycosylated lysosomal membrane protein gene DOID:5812 MHC class II deficiency ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9017327 Glmp glycosylated lysosomal membrane protein gene DOID:630 genetic disease ISO RGD:1602078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017327 Glmp glycosylated lysosomal membrane protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602078 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:0050581 brachydactyly ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:11112658|PMID:18946009|PMID:24502542|PMID:25741868|PMID:25792522|PMID:28468609|PMID:28492532|PMID:30541476 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:0080006 bone development disease ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19759027 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:0080205 CAKUT ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:11112658|PMID:11950061|PMID:18946009|PMID:24502542|PMID:25792522|PMID:28492532|PMID:30143558|PMID:30541476 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:0080376 trichorhinophalangeal syndrome type III ISO RGD:1323571 D RGD:7240710 20180130 OMIM 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:0080376 trichorhinophalangeal syndrome type III ISO RGD:1323571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III PMID:10615131|PMID:11112658|PMID:11807863|PMID:11950061|PMID:14560312|PMID:15367484|PMID:16199547|PMID:17576681|PMID:17854380|PMID:18946009|PMID:19694891|PMID:20394624|PMID:21850686|PMID:22964620|PMID:23293878|PMID:23451857|PMID:23572024|PMID:23621477|PMID:23691375|PMID:24357341|PMID:24502542|PMID:24945424|PMID:25741868|PMID:25792522|PMID:26113321|PMID:27826100|PMID:28050602|PMID:28170084|PMID:28244134|PMID:28468609|PMID:28492532|PMID:29499646|PMID:30143558|PMID:30458885|PMID:30541476|PMID:30914275|PMID:31884116|PMID:32844440|PMID:9536098 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:10907 microcephaly ISO RGD:1323571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1323571 D RGD:7240710 20180130 OMIM 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:10615131|PMID:11112658|PMID:11359471|PMID:11807863|PMID:11950061|PMID:14560312|PMID:17854380|PMID:18946009|PMID:19694891|PMID:22964620|PMID:23451857|PMID:23621477|PMID:24357341|PMID:24502542|PMID:25741868|PMID:25792522|PMID:26380986|PMID:27826100|PMID:28050602|PMID:28170084|PMID:28244134|PMID:28468609|PMID:28492532|PMID:30143558|PMID:30541476|PMID:30914275|PMID:31884116 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:2256 osteochondrodysplasia ISO RGD:1323571 D RGD:9068941 20200609 RGD trichorhinophalangeal syndrome type I, OMIM:190350 PMID:10615131|REF_RGD_ID:1599670 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:305 carcinoma ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:4998 trichorhinophalangeal syndrome type II ISO RGD:1323571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Langer-Giedion syndrome PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:630 genetic disease ISO RGD:1323571 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10615131|PMID:11112658|PMID:25792522|PMID:26113321|PMID:28004029|PMID:28492532|PMID:30914275 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:9005517 Trichorhinophalangeal Syndrome ISO RGD:1323571 D RGD:8554872 20230103 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal Syndrome | ClinVar Annotator: match by term: Trichorhinophalangeal syndrome | ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type I or III PMID:25333908|PMID:25741868|PMID:28492532|PMID:29095814 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1323571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome 9017356 Trps1 transcriptional repressor GATA binding 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1323571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11708946|PMID:19759027 9017381 Hhip hedgehog interacting protein gene DOID:10892 hypospadias ISO RGD:1354359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31568847 9017381 Hhip hedgehog interacting protein gene DOID:12236 primary biliary cholangitis ISO RGD:1564108 D RGD:9068941 20200609 RGD mRNA:decreased expression: PMID:18375471|REF_RGD_ID:11552599 9017381 Hhip hedgehog interacting protein gene DOID:2513 basal cell carcinoma ISO RGD:1557623 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:15024045|REF_RGD_ID:11552592 9017381 Hhip hedgehog interacting protein gene DOID:2513 basal cell carcinoma treatment ISO RGD:1557623 D RGD:9068941 20200609 RGD PMID:15024045|REF_RGD_ID:11552592 9017381 Hhip hedgehog interacting protein gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1354359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease, biomass related 9017381 Hhip hedgehog interacting protein gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1354359 D RGD:9068941 20200609 RGD DNA:SNP: :rs13118928(human) PMID:19996190|REF_RGD_ID:11552598 9017381 Hhip hedgehog interacting protein gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:1354359 D RGD:9068941 20200609 RGD DNA:SNPs: :rs11100865, rs7654947(human) PMID:25928290|REF_RGD_ID:11552597 9017381 Hhip hedgehog interacting protein gene DOID:5082 liver cirrhosis ISO RGD:1557623 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:19815628|REF_RGD_ID:11552602 9017381 Hhip hedgehog interacting protein gene DOID:630 genetic disease ISO RGD:1354359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017381 Hhip hedgehog interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:1354359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18559595 9017381 Hhip hedgehog interacting protein gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1564108 D RGD:9068941 20200609 RGD PMID:19515211|REF_RGD_ID:11552601 9017381 Hhip hedgehog interacting protein gene DOID:9008443 Colorectal Neoplasms ISO RGD:1354359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 9017381 Hhip hedgehog interacting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 9017381 Hhip hedgehog interacting protein gene DOID:9675 pulmonary emphysema ISO RGD:1557623 D RGD:9068941 20200609 RGD DNA:haplotype insufficiency: : PMID:25763110|REF_RGD_ID:11552596 9017381 Hhip hedgehog interacting protein gene DOID:9743 diabetic neuropathy ISO RGD:1564108 D RGD:9068941 20200609 RGD PMID:19515211|REF_RGD_ID:11552601 9017406 Znf684 zinc finger protein 684 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9017406 Znf684 zinc finger protein 684 gene DOID:630 genetic disease ISO RGD:1601724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017428 Syn3 synapsin III gene DOID:0060041 autism spectrum disorder ISO RGD:736492 D RGD:9068941 20220825 MouseDO 9017428 Syn3 synapsin III gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 9017428 Syn3 synapsin III gene DOID:0090114 Sorsby's fundus dystrophy ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sorsby fundus dystrophy PMID:10854443|PMID:25741868|PMID:27601084|PMID:28492532|PMID:31415707|PMID:7148944|PMID:7894485|PMID:8634721|PMID:8639088|PMID:8919688|PMID:8981947 9017428 Syn3 synapsin III gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 9017428 Syn3 synapsin III gene DOID:630 genetic disease ISO RGD:736491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9017428 Syn3 synapsin III gene DOID:8501 fundus dystrophy ISO RGD:736491 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23023527|PMID:26493035|PMID:27601084|PMID:28492532|PMID:28559085|PMID:35679059 9017428 Syn3 synapsin III gene DOID:9003601 Pseudoinflammatory Fundus Dystrophy, Finnish Type ISO RGD:736491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form PMID:25741868|PMID:28492532 9017453 Atp6v0d1 ATPase H+ transporting V0 subunit d1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1314615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9017453 Atp6v0d1 ATPase H+ transporting V0 subunit d1 gene DOID:630 genetic disease ISO RGD:1314615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017466 Foxl2 forkhead box L2 gene DOID:0080860 primary ovarian insufficiency 3 ISO RGD:1320713 D RGD:7240710 20180130 OMIM 9017466 Foxl2 forkhead box L2 gene DOID:0080860 primary ovarian insufficiency 3 ISO RGD:1320713 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 3 PMID:12149404|PMID:12161610|PMID:12529855|PMID:18635577|PMID:19429596|PMID:19515849|PMID:25741868|PMID:28492532|PMID:29378385|PMID:31048069|PMID:31077882 9017466 Foxl2 forkhead box L2 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1320713 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:24728327 9017466 Foxl2 forkhead box L2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1320713 D RGD:7240710 20180130 OMIM 9017466 Foxl2 forkhead box L2 gene DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome ISO RGD:1320713 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome PMID:11175783|PMID:11468277|PMID:11776388|PMID:12149404|PMID:12161610|PMID:12400065|PMID:12529855|PMID:12630957|PMID:12938087|PMID:16283882|PMID:17277738|PMID:18372316|PMID:18484667|PMID:18635577|PMID:18642388|PMID:19010791|PMID:19429596|PMID:19515849|PMID:22159675|PMID:22312189|PMID:23441113|PMID:25741868|PMID:27914838|PMID:28492532|PMID:28849110|PMID:30029625|PMID:30198434|PMID:31048069|PMID:31077882|PMID:33796131 9017466 Foxl2 forkhead box L2 gene DOID:2876 laryngeal squamous cell carcinoma exacerbates ISO RGD:1320713 D RGD:9068941 20220414 RGD mRNA:increased expression:larynx (human) PMID:32517588|REF_RGD_ID:151667913 9017466 Foxl2 forkhead box L2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1320713 D RGD:9068941 20220414 RGD DNA:hypermethylation: (human) PMID:23599765|REF_RGD_ID:13503323 9017466 Foxl2 forkhead box L2 gene DOID:5426 primary ovarian insufficiency ISO RGD:1320713 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 9017466 Foxl2 forkhead box L2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:24728327 9017466 Foxl2 forkhead box L2 gene DOID:630 genetic disease ISO RGD:1320713 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11468277|PMID:18642388|PMID:28492532|PMID:31048069 9017466 Foxl2 forkhead box L2 gene DOID:9000058 Keloid ISO RGD:1320713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20711176 9017466 Foxl2 forkhead box L2 gene DOID:9003489 Blepharophimosis Syndrome Type 1 ISO RGD:1320713 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I PMID:11175783|PMID:11468277|PMID:11776388|PMID:12400065|PMID:12529855|PMID:12567411|PMID:12630957|PMID:12938087|PMID:16219626|PMID:17089161|PMID:17277738|PMID:18372316|PMID:25741868|PMID:28492532|PMID:28849110|PMID:30029625|PMID:30198434|PMID:31048069 9017466 Foxl2 forkhead box L2 gene DOID:9007148 Blepharophimosis Syndrome Type 2 ISO RGD:1320713 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure PMID:11175783|PMID:11468277|PMID:11776388|PMID:12400065|PMID:12529855|PMID:12630957|PMID:12938087|PMID:16283882|PMID:17277738|PMID:18372316|PMID:18484667|PMID:21325395|PMID:25741868|PMID:28492532 9017466 Foxl2 forkhead box L2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1320713 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17892325 9017477 Maml2 mastermind like transcriptional coactivator 2 gene DOID:1059 intellectual disability ISO RGD:1313593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9017477 Maml2 mastermind like transcriptional coactivator 2 gene DOID:12704 ataxia telangiectasia ISO RGD:1313593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 9017477 Maml2 mastermind like transcriptional coactivator 2 gene DOID:630 genetic disease ISO RGD:1313593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017477 Maml2 mastermind like transcriptional coactivator 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1313593 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9017508 Tymp thymidine phosphorylase gene DOID:0050713 COX deficiency, infantile mitochondrial myopathy ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 9017508 Tymp thymidine phosphorylase gene DOID:0060041 autism spectrum disorder ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 9017508 Tymp thymidine phosphorylase gene DOID:0060074 ductal carcinoma in situ ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:9306962|REF_RGD_ID:2293726 9017508 Tymp thymidine phosphorylase gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1313979 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 9017508 Tymp thymidine phosphorylase gene DOID:0070331 mitochondrial DNA depletion syndrome 8b ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16972839|PMID:22977166 9017508 Tymp thymidine phosphorylase gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 9017508 Tymp thymidine phosphorylase gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1313979 D RGD:7240710 20180130 OMIM 9017508 Tymp thymidine phosphorylase gene DOID:0080119 mitochondrial DNA depletion syndrome 1 ISO RGD:1313979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition PMID:10852545|PMID:12084896|PMID:12177387|PMID:12529715|PMID:14720311|PMID:14757860|PMID:15505189|PMID:15742109|PMID:15781193|PMID:16178026|PMID:16198108|PMID:16199547|PMID:16971696|PMID:16995425|PMID:17294068|PMID:17437622|PMID:17549623|PMID:17576681|PMID:18280229|PMID:19056268|PMID:19344718|PMID:19523753|PMID:19748572|PMID:19853446|PMID:2005900|PMID:20151198|PMID:20232099|PMID:20301358|PMID:21412940|PMID:21794876|PMID:21820356|PMID:21933806|PMID:22011815|PMID:22618301|PMID:23341816|PMID:23430799|PMID:23590577|PMID:23643385|PMID:23685548|PMID:24033266|PMID:24215330|PMID:25741868|PMID:26264513|PMID:26467025|PMID:27104957|PMID:27261974|PMID:28492532|PMID:30487145|PMID:31885962|PMID:32849836|PMID:33300680|PMID:33533561|PMID:34926160|PMID:35085849|PMID:36101829|PMID:37334785|PMID:9536098|PMID:9924029 9017508 Tymp thymidine phosphorylase gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1313979 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:10852545|PMID:12529715|PMID:14720311|PMID:14757860|PMID:15781193|PMID:16178026|PMID:16198108|PMID:16199547|PMID:16995425|PMID:17576681|PMID:19056268|PMID:19344718|PMID:19748572|PMID:19853446|PMID:2005900|PMID:20151198|PMID:20232099|PMID:20301358|PMID:21820356|PMID:22011815|PMID:23341816|PMID:23430799|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26264513|PMID:26467025|PMID:27104957|PMID:28492532|PMID:33533561|PMID:35085849|PMID:9536098|PMID:9924029 9017508 Tymp thymidine phosphorylase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9017508 Tymp thymidine phosphorylase gene DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 9017508 Tymp thymidine phosphorylase gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 9017508 Tymp thymidine phosphorylase gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1313979 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 9017508 Tymp thymidine phosphorylase gene DOID:10581 metachromatic leukodystrophy ISO RGD:1313979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 9017508 Tymp thymidine phosphorylase gene DOID:1059 intellectual disability ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9017508 Tymp thymidine phosphorylase gene DOID:11054 urinary bladder cancer ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11103787|PMID:15841086 9017508 Tymp thymidine phosphorylase gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:16937303|REF_RGD_ID:2293716 9017508 Tymp thymidine phosphorylase gene DOID:12377 spinal muscular atrophy ISO RGD:1313979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy PMID:2005900|PMID:25741868|PMID:26467025|PMID:28492532 9017508 Tymp thymidine phosphorylase gene DOID:1380 endometrial cancer ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:18348659|REF_RGD_ID:2293715 9017508 Tymp thymidine phosphorylase gene DOID:1793 pancreatic cancer ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17443278 9017508 Tymp thymidine phosphorylase gene DOID:1793 pancreatic cancer ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:19671868|REF_RGD_ID:2325156 9017508 Tymp thymidine phosphorylase gene DOID:2394 ovarian cancer disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15628771|REF_RGD_ID:2293721 9017508 Tymp thymidine phosphorylase gene DOID:2394 ovarian cancer disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD protein:increased expression:ovary, serum PMID:15262124|REF_RGD_ID:2293722 9017508 Tymp thymidine phosphorylase gene DOID:2671 transitional cell carcinoma ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:15841086|REF_RGD_ID:2293720 9017508 Tymp thymidine phosphorylase gene DOID:305 carcinoma ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11103787|PMID:12565868 9017508 Tymp thymidine phosphorylase gene DOID:3307 teratoma ISO RGD:1313979 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:10886088|REF_RGD_ID:2293724 9017508 Tymp thymidine phosphorylase gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:19760965|REF_RGD_ID:2325155 9017508 Tymp thymidine phosphorylase gene DOID:3744 cervical squamous cell carcinoma disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:16803522|REF_RGD_ID:2293719 9017508 Tymp thymidine phosphorylase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11641616 9017508 Tymp thymidine phosphorylase gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COX deficiency | ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:12529715|PMID:23643385|PMID:25741868|PMID:26467025|PMID:28492532 9017508 Tymp thymidine phosphorylase gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:19671868|REF_RGD_ID:2325156 9017508 Tymp thymidine phosphorylase gene DOID:4440 seminoma ISO RGD:1313979 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:10886088|REF_RGD_ID:2293724 9017508 Tymp thymidine phosphorylase gene DOID:4450 renal cell carcinoma ISO RGD:1313979 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:16861722|REF_RGD_ID:2293717 9017508 Tymp thymidine phosphorylase gene DOID:4450 renal cell carcinoma severity ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:12614261|REF_RGD_ID:2293723 9017508 Tymp thymidine phosphorylase gene DOID:4608 common bile duct neoplasm disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:10760693|REF_RGD_ID:2325158 9017508 Tymp thymidine phosphorylase gene DOID:4948 gallbladder carcinoma disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:18946757|REF_RGD_ID:2325157 9017508 Tymp thymidine phosphorylase gene DOID:630 genetic disease ISO RGD:1313979 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15781193|PMID:16199547|PMID:17576681|PMID:19056268|PMID:22618301|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9924029 9017508 Tymp thymidine phosphorylase gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1313979 D RGD:9068941 20200609 RGD mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome,OMIM:603041;DNA:point mutation:exon:E289A PMID:9924029|REF_RGD_ID:1601000 9017508 Tymp thymidine phosphorylase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1313979 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:10685502|REF_RGD_ID:2293725 9017508 Tymp thymidine phosphorylase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1313979 D RGD:9068941 20200609 RGD associated with Cholangiocarcinoma PMID:11927969|REF_RGD_ID:2325027 9017508 Tymp thymidine phosphorylase gene DOID:9000217 Stomach Neoplasms ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 9017508 Tymp thymidine phosphorylase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11103787 9017508 Tymp thymidine phosphorylase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1313979 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18441329|REF_RGD_ID:2293714 9017508 Tymp thymidine phosphorylase gene DOID:9001044 Choroidal Neovascularization ISO RGD:1305756 D RGD:9068941 20200609 RGD PMID:12556409|REF_RGD_ID:2293727 9017508 Tymp thymidine phosphorylase gene DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type ISO RGD:1313979 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: Myoneurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:10852545|PMID:12529715|PMID:14720311|PMID:14757860|PMID:15781193|PMID:16178026|PMID:16198108|PMID:16199547|PMID:16995425|PMID:17576681|PMID:19056268|PMID:19344718|PMID:19748572|PMID:19853446|PMID:2005900|PMID:20151198|PMID:20232099|PMID:20301358|PMID:21820356|PMID:22011815|PMID:23341816|PMID:23430799|PMID:23643385|PMID:24033266|PMID:25741868|PMID:26264513|PMID:26467025|PMID:27104957|PMID:28492532|PMID:33533561|PMID:35085849|PMID:9536098|PMID:9924029 9017508 Tymp thymidine phosphorylase gene DOID:9002928 Colonic Neoplasms ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18652704 9017508 Tymp thymidine phosphorylase gene DOID:9004853 Myopia 6 ISO RGD:1313979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia 6 PMID:25741868|PMID:28492532 9017508 Tymp thymidine phosphorylase gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15706408|PMID:17047489 9017508 Tymp thymidine phosphorylase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:1313979 D RGD:9068941 20200609 RGD PMID:16854285|REF_RGD_ID:2293718 9017534 Rpl10l ribosomal protein L10 like gene DOID:0070176 spermatogenic failure 4 ISO RGD:1314230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenesis maturation arrest PMID:32111475 9017534 Rpl10l ribosomal protein L10 like gene DOID:0112356 spermatogenic failure 63 ISO RGD:1314230 D RGD:7240710 20220126 OMIM 9017534 Rpl10l ribosomal protein L10 like gene DOID:0112356 spermatogenic failure 63 ISO RGD:1314230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 63 PMID:32111475 9017534 Rpl10l ribosomal protein L10 like gene DOID:10283 prostate cancer ISO RGD:1314230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9017534 Rpl10l ribosomal protein L10 like gene DOID:630 genetic disease ISO RGD:1314230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017534 Rpl10l ribosomal protein L10 like gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1314230 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9017534 Rpl10l ribosomal protein L10 like gene DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis ISO RGD:1314230 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis 9017542 Echdc1 ethylmalonyl-CoA decarboxylase 1 gene DOID:0080154 short chain acyl-CoA dehydrogenase deficiency ISO RGD:1346197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:25741868 9017542 Echdc1 ethylmalonyl-CoA decarboxylase 1 gene DOID:1909 melanoma ISO RGD:1346197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 9017542 Echdc1 ethylmalonyl-CoA decarboxylase 1 gene DOID:630 genetic disease ISO RGD:1346197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017542 Echdc1 ethylmalonyl-CoA decarboxylase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1346197 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 9017557 Nt5c1b 5'-nucleotidase, cytosolic IB gene DOID:630 genetic disease ISO RGD:1354038 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1353034 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:10652 Alzheimer's disease ISO RGD:1353034 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, membrane PMID:9507158|REF_RGD_ID:10053642 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:127 leiomyoma ISO RGD:1353034 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium PMID:16962107|REF_RGD_ID:1643479 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:12704 ataxia telangiectasia ISO RGD:1353034 D RGD:9068941 20200609 RGD DNA:mutation:exon:c.342C>T(human) PMID:19898928|REF_RGD_ID:14394817 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:2893 cervix carcinoma ISO RGD:1353034 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:multiple (human) PMID:12771926|REF_RGD_ID:2315701 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:1552456 D RGD:9068941 20200609 RGD PMID:20890041|REF_RGD_ID:13506803 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:3669 intermittent claudication ISO RGD:621635 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:1353034 D RGD:9068941 20200609 RGD PMID:9894249|REF_RGD_ID:2315703 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:5844 myocardial infarction ISO RGD:1353034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29122578 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:630 genetic disease ISO RGD:1353034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621635 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11232245|REF_RGD_ID:2315709 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1353034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28100771 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1353034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18349538 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:9002955 Nerve Degeneration ISO RGD:1353034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19740541 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621635 D RGD:9068941 20200609 RGD PMID:18993028|REF_RGD_ID:2316133 9017579 Bak1 BCL2 antagonist/killer 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1552456 D RGD:9068941 20200609 RGD PMID:19222350|REF_RGD_ID:2315700 9017599 Dnaaf5 dynein axonemal assembly factor 5 gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:1606283 D RGD:7240710 20190315 OMIM 9017599 Dnaaf5 dynein axonemal assembly factor 5 gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:1606283 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DNAAF5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 PMID:16199547|PMID:17576681|PMID:20301301|PMID:23040496|PMID:24033266|PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216|PMID:37104040|PMID:9536098 9017599 Dnaaf5 dynein axonemal assembly factor 5 gene DOID:12336 male infertility ISO RGD:1615463 D RGD:9068941 20240111 MouseDO 9017599 Dnaaf5 dynein axonemal assembly factor 5 gene DOID:5419 schizophrenia ISO RGD:1606283 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9017599 Dnaaf5 dynein axonemal assembly factor 5 gene DOID:630 genetic disease ISO RGD:1606283 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9017599 Dnaaf5 dynein axonemal assembly factor 5 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606283 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:20301301|PMID:23040496|PMID:24033266|PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216|PMID:37104040|PMID:9536098 9017616 Rhbdd1 rhomboid domain containing 1 gene DOID:1793 pancreatic cancer ISO RGD:1601951 D RGD:9068941 20230309 CTD CTD Direct Evidence: therapeutic PMID:35442567 9017616 Rhbdd1 rhomboid domain containing 1 gene DOID:630 genetic disease ISO RGD:1601951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017643 Chst11 carbohydrate sulfotransferase 11 gene DOID:0050581 brachydactyly ISO RGD:1318147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:29514872 9017643 Chst11 carbohydrate sulfotransferase 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1318147 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9017643 Chst11 carbohydrate sulfotransferase 11 gene DOID:2256 osteochondrodysplasia ISO RGD:1318147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chondrodysplasia PMID:29514872 9017643 Chst11 carbohydrate sulfotransferase 11 gene DOID:630 genetic disease ISO RGD:1318147 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017643 Chst11 carbohydrate sulfotransferase 11 gene DOID:9005586 Synpolydactyly 1 ISO RGD:1318147 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Synpolydactyly type 1 PMID:29514872 9017659 CUNH18orf63 chromosome unknown C18orf63 homolog gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:5132403 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 9017659 CUNH18orf63 chromosome unknown C18orf63 homolog gene DOID:630 genetic disease ISO RGD:5132403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017659 CUNH18orf63 chromosome unknown C18orf63 homolog gene DOID:6420 pulmonary valve stenosis ISO RGD:5132403 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 9017659 CUNH18orf63 chromosome unknown C18orf63 homolog gene DOID:8445 intestinal volvulus ISO RGD:5132403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 9017659 CUNH18orf63 chromosome unknown C18orf63 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:5132403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9017659 CUNH18orf63 chromosome unknown C18orf63 homolog gene DOID:9008419 Volvulus Of Midgut ISO RGD:5132403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 9017677 C1qa complement C1q A chain gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1315493 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 9017677 C1qa complement C1q A chain gene DOID:0050486 exanthem ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 9017677 C1qa complement C1q A chain gene DOID:0060369 Parkinson's disease 6 ISO RGD:1315493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 9017677 C1qa complement C1q A chain gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1315493 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 9017677 C1qa complement C1q A chain gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1315493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 9017677 C1qa complement C1q A chain gene DOID:0080600 COVID-19 ISO RGD:1315493 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9017677 C1qa complement C1q A chain gene DOID:11758 iron deficiency anemia ISO RGD:1306716 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:18723004|REF_RGD_ID:2301196 9017677 C1qa complement C1q A chain gene DOID:1557 hypersensitivity reaction type III disease ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 9017677 C1qa complement C1q A chain gene DOID:1826 epilepsy ISO RGD:1315494 D RGD:9068941 20220825 MouseDO 9017677 C1qa complement C1q A chain gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 9017677 C1qa complement C1q A chain gene DOID:2921 glomerulonephritis susceptibility ISO RGD:1315493 D RGD:9068941 20200609 RGD DNA:nonsense mutation (human) PMID:8840296|REF_RGD_ID:1600549 9017677 C1qa complement C1q A chain gene DOID:2986 IgA glomerulonephritis ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636|PMID:8840296 9017677 C1qa complement C1q A chain gene DOID:630 genetic disease ISO RGD:1315493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9017677 C1qa complement C1q A chain gene DOID:9000998 Brain Injuries ISO RGD:1306716 D RGD:9068941 20200609 RGD PMID:23808389|REF_RGD_ID:10054313 9017677 C1qa complement C1q A chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9017677 C1qa complement C1q A chain gene DOID:9005556 C1q Deficiency 1 ISO RGD:1315493 D RGD:7240710 20230505 OMIM 9017677 C1qa complement C1q A chain gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1315493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9017677 C1qa complement C1q A chain gene DOID:9007516 C1q Deficiency ISO RGD:1315493 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: C1Q deficiency PMID:21654842|PMID:22472776|PMID:25741868|PMID:26563161|PMID:28492532|PMID:29739689|PMID:30008451|PMID:7594474|PMID:8840296|PMID:9225968|PMID:9590289 9017677 C1qa complement C1q A chain gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1315493 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 9017677 C1qa complement C1q A chain gene DOID:9074 systemic lupus erythematosus ISO RGD:1315493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8840296 9017677 C1qa complement C1q A chain gene DOID:9074 systemic lupus erythematosus ISO RGD:1315494 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 9017690 Tbx15 T-box transcription factor 15 gene DOID:0050722 PHGDH deficiency ISO RGD:1317666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 9017690 Tbx15 T-box transcription factor 15 gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1317666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 9017690 Tbx15 T-box transcription factor 15 gene DOID:630 genetic disease ISO RGD:1317666 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9017690 Tbx15 T-box transcription factor 15 gene DOID:9004239 Cousin Syndrome ISO RGD:1317666 D RGD:7240710 20180130 OMIM 9017690 Tbx15 T-box transcription factor 15 gene DOID:9004239 Cousin Syndrome ISO RGD:1317666 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pelviscapular dysplasia PMID:19068278|PMID:25741868|PMID:28492532 9017690 Tbx15 T-box transcription factor 15 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1317666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26213588 9017690 Tbx15 T-box transcription factor 15 gene DOID:9006257 Growth Disorders ISO RGD:1317666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19068278 9017690 Tbx15 T-box transcription factor 15 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1317666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19068278 9017711 Pde12 phosphodiesterase 12 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1606683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055709 9017711 Pde12 phosphodiesterase 12 gene DOID:630 genetic disease ISO RGD:1606683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017711 Pde12 phosphodiesterase 12 gene DOID:9004531 Cardiovirus Infections ISO RGD:1606683 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26055709 9017711 Pde12 phosphodiesterase 12 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1606683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 9017728 Vstm2l V-set and transmembrane domain containing 2 like gene DOID:2234 focal epilepsy ISO RGD:1313925 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9017728 Vstm2l V-set and transmembrane domain containing 2 like gene DOID:630 genetic disease ISO RGD:1313925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017736 Cc2d1b coiled-coil and C2 domain containing 1B gene DOID:630 genetic disease ISO RGD:1603884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017785 Ormdl2 ORMDL sphingolipid biosynthesis regulator 2 gene DOID:630 genetic disease ISO RGD:1313791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017805 Ccl16 C-C motif chemokine ligand 16 gene DOID:630 genetic disease ISO RGD:1352726 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017805 Ccl16 C-C motif chemokine ligand 16 gene DOID:9006262 Cytomegalovirus Infections ISO RGD:1352726 D RGD:9068941 20200820 RGD protein:increased expression:plasma (human) PMID:23593305|REF_RGD_ID:38508895 9017823 Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 gene DOID:0080392 nephrotic syndrome type 17 ISO RGD:1319955 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 17 PMID:25741868|PMID:30179222 9017823 Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 gene DOID:0111497 combined oxidative phosphorylation deficiency 34 ISO RGD:1319955 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 PMID:25741868|PMID:28492532 9017823 Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 gene DOID:630 genetic disease ISO RGD:1319955 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017846 Fam32a family with sequence similarity 32 member A gene DOID:630 genetic disease ISO RGD:1316761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017864 Mlxipl MLX interacting protein like gene DOID:0060041 autism spectrum disorder ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 9017864 Mlxipl MLX interacting protein like gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:620400 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 9017864 Mlxipl MLX interacting protein like gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:620400 D RGD:9068941 20230914 RGD PMID:28458350|REF_RGD_ID:401799674 9017864 Mlxipl MLX interacting protein like gene DOID:12849 autistic disorder ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9017864 Mlxipl MLX interacting protein like gene DOID:1928 Williams-Beuren syndrome ISO RGD:1343873 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868|PMID:28492532 9017864 Mlxipl MLX interacting protein like gene DOID:2661 myoepithelioma ISO RGD:1343873 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9017864 Mlxipl MLX interacting protein like gene DOID:3393 coronary artery disease susceptibility ISO RGD:1343873 D RGD:9068941 20230831 RGD DNA:SNP:cds: C771G, H241Q PMID:25179879|REF_RGD_ID:401794581 9017864 Mlxipl MLX interacting protein like gene DOID:3393 coronary artery disease susceptibility ISO RGD:1343873 D RGD:9068941 20230831 RGD DNA:SNP:cds: G771C, Q241H (rs381231) PMID:19571538|REF_RGD_ID:401794582 9017864 Mlxipl MLX interacting protein like gene DOID:3393 coronary artery disease susceptibility ISO RGD:1343873 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes: (rs3812316) (human) PMID:21726544|REF_RGD_ID:401794579 9017864 Mlxipl MLX interacting protein like gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9017864 Mlxipl MLX interacting protein like gene DOID:5419 schizophrenia ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9017864 Mlxipl MLX interacting protein like gene DOID:557 kidney disease ISO RGD:620400 D RGD:9068941 20230921 RGD associated with hypertension;protein:increased expression:kidney (rat) PMID:28851937|REF_RGD_ID:401824613 9017864 Mlxipl MLX interacting protein like gene DOID:5844 myocardial infarction susceptibility ISO RGD:1343873 D RGD:9068941 20230914 RGD DNA:SNP:cd: C771G, p.Q241H (rs3812316) (human) PMID:24448738|REF_RGD_ID:401799621 9017864 Mlxipl MLX interacting protein like gene DOID:630 genetic disease ISO RGD:1343873 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017864 Mlxipl MLX interacting protein like gene DOID:684 hepatocellular carcinoma ISO RGD:1343873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 9017864 Mlxipl MLX interacting protein like gene DOID:783 end stage renal disease ISO RGD:1343873 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 9017864 Mlxipl MLX interacting protein like gene DOID:783 end stage renal disease ameliorates ISO RGD:620400 D RGD:9068941 20230914 RGD PMID:19878707|REF_RGD_ID:2326081 9017864 Mlxipl MLX interacting protein like gene DOID:8445 intestinal volvulus ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 9017864 Mlxipl MLX interacting protein like gene DOID:9000528 Coronary Disease susceptibility ISO RGD:1343873 D RGD:9068941 20230914 RGD DNA:SNP: (rs35493868); in younger than 55 years of age PMID:29848931|REF_RGD_ID:401799677 9017864 Mlxipl MLX interacting protein like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9017864 Mlxipl MLX interacting protein like gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:1343873 D RGD:9068941 20230831 RGD DNA:SNPs,haplotypes: (rs17145738) (human) PMID:27599772|REF_RGD_ID:401794577 9017864 Mlxipl MLX interacting protein like gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:620400 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 9017864 Mlxipl MLX interacting protein like gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:620400 D RGD:9068941 20230914 RGD PMID:27821167|REF_RGD_ID:401799622 9017864 Mlxipl MLX interacting protein like gene DOID:9007692 Insulin Resistance treatment ISO RGD:620400 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 9017864 Mlxipl MLX interacting protein like gene DOID:9008419 Volvulus Of Midgut ISO RGD:1343873 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 9017864 Mlxipl MLX interacting protein like gene DOID:9352 type 2 diabetes mellitus ISO RGD:620400 D RGD:9068941 20230914 RGD protein:increased expression:liver (rat) PMID:30029691|REF_RGD_ID:401799626 9017864 Mlxipl MLX interacting protein like gene DOID:9778 irritable bowel syndrome ISO RGD:1621550 D RGD:9068941 20220825 MouseDO 9017911 Ccdc82 coiled-coil domain containing 82 gene DOID:0050888 syndromic intellectual disability ISO RGD:1602861 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25741868|PMID:28397838|PMID:35118659 9017911 Ccdc82 coiled-coil domain containing 82 gene DOID:1059 intellectual disability ISO RGD:1602861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9017911 Ccdc82 coiled-coil domain containing 82 gene DOID:12704 ataxia telangiectasia ISO RGD:1602861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 9017911 Ccdc82 coiled-coil domain containing 82 gene DOID:630 genetic disease ISO RGD:1602861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017928 Clock clock circadian regulator gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1348034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 9017928 Clock clock circadian regulator gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348034 D RGD:9068941 20200609 RGD DNA:snp:3' utr:c.3111T>C (human) PMID:23912676|REF_RGD_ID:10401872 9017928 Clock clock circadian regulator gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348034 D RGD:9068941 20200609 RGD DNA:snp:intron:c.560-1279C>G (rs4580704) (human) PMID:23357097|REF_RGD_ID:10401862 9017928 Clock clock circadian regulator gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1348034 D RGD:9068941 20200609 RGD DNA:snp:intron:c.982+247G>C (rs1554483) (human) PMID:23781009|REF_RGD_ID:10401861 9017928 Clock clock circadian regulator gene DOID:10763 hypertension ISO RGD:620271 D RGD:9068941 20200609 RGD mRNA:altered expression:gastrocnemius muscle (rat) PMID:22076133|REF_RGD_ID:9686076 9017928 Clock clock circadian regulator gene DOID:13580 cholestasis ISO RGD:620271 D RGD:9068941 20200609 RGD mRNA:increased expression:cholangiocyte PMID:21757639|REF_RGD_ID:10043349 9017928 Clock clock circadian regulator gene DOID:1574 alcohol use disorder susceptibility ISO RGD:1348034 D RGD:9068941 20240229 RGD DNA:SNP:: (rs2412648) (human) PMID:20554694|REF_RGD_ID:401976551 9017928 Clock clock circadian regulator gene DOID:2723 dermatitis ISO RGD:1552430 D RGD:9068941 20200609 RGD PMID:21149897|REF_RGD_ID:10401871 9017928 Clock clock circadian regulator gene DOID:3312 bipolar disorder ISO RGD:1552430 D RGD:9068941 20220825 MouseDO 9017928 Clock clock circadian regulator gene DOID:535 sleep disorder ISO RGD:1552430 D RGD:9068941 20220825 MouseDO 9017928 Clock clock circadian regulator gene DOID:630 genetic disease ISO RGD:1348034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017928 Clock clock circadian regulator gene DOID:83 cataract ISO RGD:1552430 D RGD:9068941 20200609 RGD PMID:21149897|REF_RGD_ID:10401871 9017928 Clock clock circadian regulator gene DOID:9002735 alcohol withdrawal syndrome severity ISO RGD:1348034 D RGD:9068941 20240302 RGD mRNA:decreased expression:peripheral blood mononuclear cells (human) PMID:20735373|REF_RGD_ID:401976556 9017928 Clock clock circadian regulator gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620271 D RGD:9068941 20200609 RGD protein:increased expression:pineal gland PMID:23336172|REF_RGD_ID:10043348 9017928 Clock clock circadian regulator gene DOID:9351 diabetes mellitus ISO RGD:1552430 D RGD:9068941 20220825 MouseDO 9017971 Ppp1r14c protein phosphatase 1 regulatory inhibitor subunit 14C gene DOID:0080599 Coronavirus infectious disease ISO RGD:735967 D RGD:9068941 20220825 MouseDO 9017971 Ppp1r14c protein phosphatase 1 regulatory inhibitor subunit 14C gene DOID:630 genetic disease ISO RGD:735966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017985 P4htm prolyl 4-hydroxylase, transmembrane gene DOID:1059 intellectual disability ISO RGD:1607023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:30940925 9017985 P4htm prolyl 4-hydroxylase, transmembrane gene DOID:630 genetic disease ISO RGD:1607023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9017985 P4htm prolyl 4-hydroxylase, transmembrane gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1607023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 9017985 P4htm prolyl 4-hydroxylase, transmembrane gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1607023 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 9017985 P4htm prolyl 4-hydroxylase, transmembrane gene DOID:9003689 HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES ISO RGD:1607023 D RGD:7240710 20190918 OMIM 9017985 P4htm prolyl 4-hydroxylase, transmembrane gene DOID:9003689 HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES ISO RGD:1607023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES PMID:25078763|PMID:25741868|PMID:30940925 9018002 Hmgcll1 3-hydroxy-3-methylglutaryl-CoA lyase like 1 gene DOID:630 genetic disease ISO RGD:1352812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018015 Foxj3 forkhead box J3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1323400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9018015 Foxj3 forkhead box J3 gene DOID:630 genetic disease ISO RGD:1323400 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9018036 Arhgef38 Rho guanine nucleotide exchange factor 38 gene DOID:630 genetic disease ISO RGD:1603216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018057 Plg plasminogen gene DOID:0060903 thrombosis ISO RGD:1343043 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868|PMID:28492532|PMID:34355501 9018057 Plg plasminogen gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 9018057 Plg plasminogen gene DOID:0080600 COVID-19 treatment ISO RGD:1343043 D RGD:9068941 20200619 RGD PMID:32275753|REF_RGD_ID:30309215 9018057 Plg plasminogen gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1343043 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 9018057 Plg plasminogen gene DOID:0111592 plasminogen deficiency type I ISO RGD:1343043 D RGD:7240710 20180130 OMIM 9018057 Plg plasminogen gene DOID:0111592 plasminogen deficiency type I ISO RGD:1343043 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dysplasminogenemia | ClinVar Annotator: match by term: Plasminogen deficiency, type I PMID:10233898|PMID:12850227|PMID:12876630|PMID:12945885|PMID:1427790|PMID:15269832|PMID:16849641|PMID:17576681|PMID:1986355|PMID:20981092|PMID:22995991|PMID:2362977|PMID:23629776|PMID:24029428|PMID:25741868|PMID:26340456|PMID:2797673|PMID:27976734|PMID:28492532|PMID:30487145|PMID:31064749|PMID:31589614|PMID:31980526|PMID:34355501|PMID:6216475|PMID:6238949|PMID:659588|PMID:8392398|PMID:9242524|PMID:9375744|PMID:9536098|PMID:9834305|PMID:9858247 9018057 Plg plasminogen gene DOID:10159 osteonecrosis ISO RGD:1343043 D RGD:9068941 20200702 RGD associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human) PMID:16547717|PMID:16677567|REF_RGD_ID:30309948|REF_RGD_ID:30309951 9018057 Plg plasminogen gene DOID:10754 otitis media ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Otitis media, susceptibility to PMID:10233898|PMID:12850227|PMID:12876630|PMID:15269832|PMID:16849641|PMID:20981092|PMID:22995991|PMID:2362977|PMID:23629776|PMID:25741868|PMID:26340456|PMID:2797673|PMID:27976734|PMID:28492532|PMID:30487145|PMID:31064749|PMID:31589614|PMID:31980526|PMID:34355501 9018057 Plg plasminogen gene DOID:10763 hypertension ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6383834 9018057 Plg plasminogen gene DOID:14735 hereditary angioedema ISO RGD:1343043 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:25741868|PMID:28492532|PMID:28795768|PMID:29548426|PMID:29952006|PMID:29987869|PMID:33799813|PMID:35100351 9018057 Plg plasminogen gene DOID:14735 hereditary angioedema ISO RGD:1343043 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Hereditary angioedema with normal C1Inh | ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:25741868|PMID:28492532|PMID:28795768|PMID:29548426|PMID:29952006|PMID:29987869|PMID:33114181|PMID:33799813|PMID:35100351 9018057 Plg plasminogen gene DOID:1485 cystic fibrosis ISO RGD:1343043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:17900274|PMID:18566672|PMID:28117099|PMID:9504411 9018057 Plg plasminogen gene DOID:2213 hemorrhagic disease ISO RGD:1343043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:34355501 9018057 Plg plasminogen gene DOID:2452 thrombophilia ISO RGD:1343043 D RGD:9068941 20200609 RGD DNA:point mutation:exon:S572P PMID:8392398|REF_RGD_ID:1601404 9018057 Plg plasminogen gene DOID:2945 severe acute respiratory syndrome ISO RGD:1550861 D RGD:9068941 20200625 RGD protein:increased expression:lung (mouse) PMID:23919993|REF_RGD_ID:30310231 9018057 Plg plasminogen gene DOID:3021 acute kidney failure ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 9018057 Plg plasminogen gene DOID:3490 Noonan syndrome ISO RGD:1343043 D RGD:9068941 20200609 RGD protein:decreased activity:blood: PMID:20686427|REF_RGD_ID:13207331 9018057 Plg plasminogen gene DOID:6195 conjunctivitis ISO RGD:1343043 D RGD:9068941 20200609 RGD ligneous conjunctivitis,OMIM:217090;DNA:point mutation:exon:R216H,W597X PMID:9242524|REF_RGD_ID:1601405 9018057 Plg plasminogen gene DOID:630 genetic disease ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9018057 Plg plasminogen gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14716496 9018057 Plg plasminogen gene DOID:9003871 Venous Thrombosis ISO RGD:1343043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deep venous thrombosis PMID:10233898|PMID:12850227|PMID:12876630|PMID:15269832|PMID:16849641|PMID:20981092|PMID:22995991|PMID:2362977|PMID:23629776|PMID:25741868|PMID:26340456|PMID:2797673|PMID:27976734|PMID:28492532|PMID:30487145|PMID:31064749|PMID:31589614|PMID:31980526|PMID:34355501 9018057 Plg plasminogen gene DOID:9004968 Yin Deficiency ISO RGD:619893 D RGD:9068941 20220915 RGD protein:decreased expression:serum PMID:29729385|REF_RGD_ID:153350148 9018057 Plg plasminogen gene DOID:9005017 Hereditary Angioedema 4 ISO RGD:1343043 D RGD:7240710 20210616 OMIM 9018057 Plg plasminogen gene DOID:9005017 Hereditary Angioedema 4 ISO RGD:1343043 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 4 | ClinVar Annotator: match by term: PLG-related condition PMID:25741868|PMID:28492532|PMID:28795768|PMID:29548426|PMID:29952006|PMID:29987869|PMID:33114181|PMID:33799813|PMID:35100351|PMID:9858247 9018057 Plg plasminogen gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 9018057 Plg plasminogen gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22507835 9018057 Plg plasminogen gene DOID:9500 leukocyte disease ISO RGD:1343043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30213540 9018087 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1352807 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9018087 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1352807 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:23993198|PMID:25741868|PMID:28492532|PMID:32817297|PMID:36909829 9018087 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:4448 macular degeneration ISO RGD:1352807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:28041643|PMID:28492532|PMID:32581362 9018087 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:630 genetic disease ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9018087 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:8501 fundus dystrophy ISO RGD:1352807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:23993198|PMID:28492532|PMID:28644393|PMID:30688845|PMID:9536098 9018087 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1352807 D RGD:7240710 20210929 OMIM 9018087 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:9000341 Concentric Annular Macular Dystrophy ISO RGD:1352807 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Benign concentric annular macular dystrophy | ClinVar Annotator: match by term: IMPG1-related condition PMID:14691150|PMID:16199547|PMID:23993198|PMID:25741868|PMID:28492532|PMID:32817297|PMID:36909829|PMID:4412179 9018087 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:9002631 Vitelliform Macular Dystrophy 1 ISO RGD:1352807 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 1 PMID:25741868|PMID:28492532 9018087 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1352807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:25741868 9018087 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:9008898 Vitelliform Macular Dystrophy 4 ISO RGD:1352807 D RGD:7240710 20180130 OMIM 9018087 Impg1 interphotoreceptor matrix proteoglycan 1 gene DOID:9008898 Vitelliform Macular Dystrophy 4 ISO RGD:1352807 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 4 PMID:16199547|PMID:23993198|PMID:25741868|PMID:28492532|PMID:28644393|PMID:30688845|PMID:32817297|PMID:36909829 9018113 Trim8 tripartite motif containing 8 gene DOID:0050701 electroclinical syndrome ISO RGD:1319835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TRIM8-related epileptic encephalopathy PMID:25741868|PMID:30244534|PMID:33508234 9018113 Trim8 tripartite motif containing 8 gene DOID:1826 epilepsy ISO RGD:1319835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:30244534|PMID:32193649|PMID:33508234 9018113 Trim8 tripartite motif containing 8 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1319835 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:12068298|PMID:22508808|PMID:25403219|PMID:28492532|PMID:31639285 9018113 Trim8 tripartite motif containing 8 gene DOID:630 genetic disease ISO RGD:1319835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30244534|PMID:33508234 9018113 Trim8 tripartite motif containing 8 gene DOID:9001434 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome ISO RGD:1319835 D RGD:7240710 20210818 OMIM 9018113 Trim8 tripartite motif containing 8 gene DOID:9001434 Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome ISO RGD:1319835 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome | ClinVar Annotator: match by term: TRIM8-related condition PMID:25741868|PMID:27346735|PMID:28492532|PMID:29758562|PMID:30244534|PMID:32193649|PMID:32531461|PMID:33508234|PMID:34930159 9018123 Srrm5 serine/arginine repetitive matrix 5 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:2801093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 9018123 Srrm5 serine/arginine repetitive matrix 5 gene DOID:5419 schizophrenia ISO RGD:2801093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9018123 Srrm5 serine/arginine repetitive matrix 5 gene DOID:630 genetic disease ISO RGD:2801093 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018128 Cdk2ap2 cyclin dependent kinase 2 associated protein 2 gene DOID:1059 intellectual disability ISO RGD:1604051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9018128 Cdk2ap2 cyclin dependent kinase 2 associated protein 2 gene DOID:630 genetic disease ISO RGD:1604051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018128 Cdk2ap2 cyclin dependent kinase 2 associated protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9018128 Cdk2ap2 cyclin dependent kinase 2 associated protein 2 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1604051 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9018128 Cdk2ap2 cyclin dependent kinase 2 associated protein 2 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1604051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 9018143 Thg1l tRNA-histidine guanylyltransferase 1 like gene DOID:0070409 autosomal recessive spinocerebellar ataxia 28 ISO RGD:1603030 D RGD:7240710 20200401 OMIM 9018143 Thg1l tRNA-histidine guanylyltransferase 1 like gene DOID:0070409 autosomal recessive spinocerebellar ataxia 28 ISO RGD:1603030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28 PMID:1168944|PMID:25741868|PMID:27307223|PMID:28097321 9018143 Thg1l tRNA-histidine guanylyltransferase 1 like gene DOID:557 kidney disease ISO RGD:1603030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21784897 9018143 Thg1l tRNA-histidine guanylyltransferase 1 like gene DOID:630 genetic disease ISO RGD:1603030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28097321 9018143 Thg1l tRNA-histidine guanylyltransferase 1 like gene DOID:9000784 Fibrosis ISO RGD:1603030 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21784897 9018143 Thg1l tRNA-histidine guanylyltransferase 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9018161 LOC102017801 cytochrome c oxidase assembly protein COX15 homolog gene DOID:0050700 cardiomyopathy ISO RGD:1323821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 9018161 LOC102017801 cytochrome c oxidase assembly protein COX15 homolog gene DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 ISO RGD:1323821 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9018161 LOC102017801 cytochrome c oxidase assembly protein COX15 homolog gene DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 ISO RGD:1323821 D RGD:7240710 20180130 OMIM 9018161 LOC102017801 cytochrome c oxidase assembly protein COX15 homolog gene DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 ISO RGD:1323821 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 PMID:12474143|PMID:15235026|PMID:15863660|PMID:17576681|PMID:21412973|PMID:2175025|PMID:22310368|PMID:25741868|PMID:26940873|PMID:26959537|PMID:28492532|PMID:31102535|PMID:31967322|PMID:32232962|PMID:33746038|PMID:9536098 9018161 LOC102017801 cytochrome c oxidase assembly protein COX15 homolog gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1323821 D RGD:9068941 20200609 RGD PMID:12474143|REF_RGD_ID:1598468 9018161 LOC102017801 cytochrome c oxidase assembly protein COX15 homolog gene DOID:3652 Leigh disease ISO RGD:1323821 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:12474143|PMID:15863660|PMID:17576681|PMID:21412973|PMID:22310368|PMID:25741868|PMID:26959537|PMID:28492532|PMID:32232962|PMID:33746038|PMID:9536098 9018161 LOC102017801 cytochrome c oxidase assembly protein COX15 homolog gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1323821 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:28492532 9018161 LOC102017801 cytochrome c oxidase assembly protein COX15 homolog gene DOID:630 genetic disease ISO RGD:1323821 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12474143|PMID:15235026|PMID:21412973|PMID:2175025|PMID:25741868|PMID:26940873|PMID:28492532|PMID:31967322|PMID:32232962 9018174 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 9018174 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 9018174 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9018174 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9018174 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1606308 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9018174 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9018174 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:5812 MHC class II deficiency ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9018174 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:630 genetic disease ISO RGD:1606308 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9018174 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:9003777 Immunodeficiency due to Defect in MAPBP-Interacting Protein ISO RGD:1606308 D RGD:7240710 20180130 OMIM 9018174 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:9003777 Immunodeficiency due to Defect in MAPBP-Interacting Protein ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to defect in mapbp-interacting protein PMID:17195838|PMID:22968171|PMID:25741868|PMID:28492532 9018174 Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606308 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9018182 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:2717 Bloom syndrome ISO RGD:1606331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9018182 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:3910 lung adenocarcinoma ISO RGD:1606331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9018182 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:630 genetic disease ISO RGD:1606331 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018182 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9000998 Brain Injuries ISO RGD:11508551 D RGD:9068941 20200609 RGD PMID:24385964|REF_RGD_ID:10401136 9018182 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:1606331 D RGD:9068941 20200609 RGD PMID:19054144|REF_RGD_ID:10401133 9018182 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9004590 Acute Liver Failure ISO RGD:1606331 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35172013 9018182 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9006205 Animal Disease Models ISO RGD:1606331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9018182 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9008443 Colorectal Neoplasms ISO RGD:1606331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 9018182 Anp32a acidic nuclear phosphoprotein 32 family member A gene DOID:9256 colorectal cancer ISO RGD:1606331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9018196 Khk ketohexokinase gene DOID:0111680 essential fructosuria ISO RGD:69145 D RGD:7240710 20180130 OMIM 9018196 Khk ketohexokinase gene DOID:0111680 essential fructosuria ISO RGD:69145 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Essential fructosuria PMID:19237742|PMID:25741868|PMID:28492532|PMID:7833921|PMID:9799106 9018196 Khk ketohexokinase gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:69145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9018196 Khk ketohexokinase gene DOID:2978 carbohydrate metabolic disorder ISO RGD:1621550 D RGD:9068941 20200609 RGD PMID:29534502|REF_RGD_ID:13673909 9018196 Khk ketohexokinase gene DOID:630 genetic disease ISO RGD:69145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018196 Khk ketohexokinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2966 D RGD:9068941 20200609 RGD PMID:6088170|REF_RGD_ID:2302253 9018196 Khk ketohexokinase gene DOID:9869 hereditary fructose intolerance syndrome treatment ISO RGD:10837 D RGD:9068941 20200609 RGD PMID:29533924|REF_RGD_ID:13673910 9018215 Slf1 SMC5-SMC6 complex localization factor 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1312535 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9018215 Slf1 SMC5-SMC6 complex localization factor 1 gene DOID:630 genetic disease ISO RGD:1312535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018215 Slf1 SMC5-SMC6 complex localization factor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9018215 Slf1 SMC5-SMC6 complex localization factor 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1312535 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9018271 Il12b interleukin 12B gene DOID:0060859 salmonellosis susceptibility ISO RGD:1353629 D RGD:9068941 20200609 RGD disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns PMID:9854038|REF_RGD_ID:1600042 9018271 Il12b interleukin 12B gene DOID:0111950 immunodeficiency 29 ISO RGD:1353629 D RGD:7240710 20180130 OMIM 9018271 Il12b interleukin 12B gene DOID:0111950 immunodeficiency 29 ISO RGD:1353629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency PMID:11704807|PMID:11753820|PMID:17236132|PMID:17576681|PMID:18449199|PMID:22739501|PMID:23429356|PMID:23575353|PMID:24127073|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9854038 9018271 Il12b interleukin 12B gene DOID:11168 anogenital venereal wart ISO RGD:1353629 D RGD:9068941 20201105 RGD protein:decreased expression:peripheral blood mononuclear cells (human) PMID:23754510|REF_RGD_ID:40400714 9018271 Il12b interleukin 12B gene DOID:11168 anogenital venereal wart treatment ISO RGD:1353629 D RGD:9068941 20200609 RGD PMID:16114559|REF_RGD_ID:7829774 9018271 Il12b interleukin 12B gene DOID:12236 primary biliary cholangitis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20639880 9018271 Il12b interleukin 12B gene DOID:12385 shigellosis treatment ISO RGD:732857 D RGD:9068941 20201022 RGD PMID:30615126|REF_RGD_ID:39938959 9018271 Il12b interleukin 12B gene DOID:14453 farmer's lung ISO RGD:732857 D RGD:9068941 20200609 RGD PMID:12084045|REF_RGD_ID:4145430 9018271 Il12b interleukin 12B gene DOID:1790 malignant mesothelioma ISO RGD:1353629 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 9018271 Il12b interleukin 12B gene DOID:2841 asthma ISO RGD:1353629 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:15322986 9018271 Il12b interleukin 12B gene DOID:2841 asthma severity ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter PMID:12241719|REF_RGD_ID:4145428 9018271 Il12b interleukin 12B gene DOID:2841 asthma severity ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:polymorphisms:introns: PMID:15322986|REF_RGD_ID:1600043 9018271 Il12b interleukin 12B gene DOID:2841 asthma susceptibility ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, 3'utr: PMID:16210052|REF_RGD_ID:4145438 9018271 Il12b interleukin 12B gene DOID:3070 high grade glioma ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18176109 9018271 Il12b interleukin 12B gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:polymorphism: : PMID:19279357|REF_RGD_ID:4145423 9018271 Il12b interleukin 12B gene DOID:3770 pulmonary fibrosis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12193738 9018271 Il12b interleukin 12B gene DOID:3770 pulmonary fibrosis ISO RGD:732857 D RGD:9068941 20200609 RGD PMID:20176803|REF_RGD_ID:4888529 9018271 Il12b interleukin 12B gene DOID:3770 pulmonary fibrosis ISO RGD:732857 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:18598692|REF_RGD_ID:4889581 9018271 Il12b interleukin 12B gene DOID:630 genetic disease ISO RGD:1353629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9018271 Il12b interleukin 12B gene DOID:7147 ankylosing spondylitis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743469 9018271 Il12b interleukin 12B gene DOID:8577 ulcerative colitis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406|PMID:20228799|PMID:21297633 9018271 Il12b interleukin 12B gene DOID:8778 Crohn's disease ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438406 9018271 Il12b interleukin 12B gene DOID:8893 psoriasis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19169254|PMID:19169255|PMID:20953190 9018271 Il12b interleukin 12B gene DOID:9001488 Human Influenza ISO RGD:732857 D RGD:9068941 20200609 RGD PMID:16389596|REF_RGD_ID:4145426 9018271 Il12b interleukin 12B gene DOID:9002170 Experimental Neoplasms ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17332360 9018271 Il12b interleukin 12B gene DOID:9002395 Hypothermia ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16369138 9018271 Il12b interleukin 12B gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:628704 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lymph node PMID:19233473|REF_RGD_ID:4831840 9018271 Il12b interleukin 12B gene DOID:9003281 Spontaneous Abortions ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9018271 Il12b interleukin 12B gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:+1188A>C (human) PMID:15871664|REF_RGD_ID:14401721 9018271 Il12b interleukin 12B gene DOID:9004484 Sepsis ISO RGD:628704 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal fluid, plasma PMID:15776385|REF_RGD_ID:4888507 9018271 Il12b interleukin 12B gene DOID:9004547 Thyroid Neoplasms ISO RGD:732857 D RGD:9068941 20200609 RGD PMID:10848872|REF_RGD_ID:4145421 9018271 Il12b interleukin 12B gene DOID:9004729 Nontuberculous Mycobacterium Infections ISO RGD:1353629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive 9018271 Il12b interleukin 12B gene DOID:9004729 Nontuberculous Mycobacterium Infections susceptibility ISO RGD:1353629 D RGD:9068941 20200609 RGD disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns PMID:9854038|REF_RGD_ID:1600042 9018271 Il12b interleukin 12B gene DOID:9005968 Neuralgia ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31432094 9018271 Il12b interleukin 12B gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:732857 D RGD:9068941 20230601 RGD PMID:24920753|REF_RGD_ID:329845564 9018271 Il12b interleukin 12B gene DOID:9007188 Liver Neoplasms ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17326190 9018271 Il12b interleukin 12B gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1353629 D RGD:9068941 20230518 CTD CTD Direct Evidence: therapeutic PMID:36520315 9018271 Il12b interleukin 12B gene DOID:9008 psoriatic arthritis ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953186 9018271 Il12b interleukin 12B gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1353629 D RGD:9068941 20200609 RGD DNA:SNP:3'utr: (rs3212227) PMID:25469587|REF_RGD_ID:11074616 9018271 Il12b interleukin 12B gene DOID:9074 systemic lupus erythematosus ISO RGD:1353629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195|PMID:26808113 9018284 Tp53i11 tumor protein p53 inducible protein 11 gene DOID:1059 intellectual disability ISO RGD:1318140 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9018296 Ppp1r13l protein phosphatase 1 regulatory subunit 13 like gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1617213 D RGD:9068941 20220825 MouseDO 9018296 Ppp1r13l protein phosphatase 1 regulatory subunit 13 like gene DOID:0050737 autosomal recessive disease ISO RGD:1617213 D RGD:9068941 20220825 MouseDO 9018296 Ppp1r13l protein phosphatase 1 regulatory subunit 13 like gene DOID:1240 leukemia ISO RGD:1347285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19299014 9018296 Ppp1r13l protein phosphatase 1 regulatory subunit 13 like gene DOID:12930 dilated cardiomyopathy ISO RGD:1347285 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28069640|PMID:32666529 9018296 Ppp1r13l protein phosphatase 1 regulatory subunit 13 like gene DOID:14291 Noonan syndrome with multiple lentigines ISO RGD:1347285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardio-cutaneous syndrome PMID:28069640 9018296 Ppp1r13l protein phosphatase 1 regulatory subunit 13 like gene DOID:630 genetic disease ISO RGD:1347285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018296 Ppp1r13l protein phosphatase 1 regulatory subunit 13 like gene DOID:9006177 ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES ISO RGD:1347285 D RGD:7240710 20231108 OMIM 9018296 Ppp1r13l protein phosphatase 1 regulatory subunit 13 like gene DOID:9006177 ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES ISO RGD:1347285 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities PMID:25741868|PMID:28069640|PMID:32666529|PMID:35924320|PMID:35933355 9018313 Borcs6 BLOC-1 related complex subunit 6 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9018313 Borcs6 BLOC-1 related complex subunit 6 gene DOID:0111406 Fraser syndrome 3 ISO RGD:1603302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 9018313 Borcs6 BLOC-1 related complex subunit 6 gene DOID:12177 common variable immunodeficiency ISO RGD:1603302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9018313 Borcs6 BLOC-1 related complex subunit 6 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603302 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 9018313 Borcs6 BLOC-1 related complex subunit 6 gene DOID:2729 dyskeratosis congenita ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 9018313 Borcs6 BLOC-1 related complex subunit 6 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 9018313 Borcs6 BLOC-1 related complex subunit 6 gene DOID:630 genetic disease ISO RGD:1603302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018318 Trmt10a tRNA methyltransferase 10A gene DOID:630 genetic disease ISO RGD:1319496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24204302|PMID:25053765|PMID:26526202|PMID:26535115|PMID:28492532 9018318 Trmt10a tRNA methyltransferase 10A gene DOID:9006534 Nervous System Malformations ISO RGD:1319496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:24204302|PMID:25741868|PMID:26535115|PMID:28492532 9018318 Trmt10a tRNA methyltransferase 10A gene DOID:9006685 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 ISO RGD:1319496 D RGD:7240710 20180130 OMIM 9018318 Trmt10a tRNA methyltransferase 10A gene DOID:9006685 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 ISO RGD:1319496 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 PMID:24204302|PMID:25053765|PMID:25741868|PMID:26535115|PMID:28492532 9018333 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1322656 D RGD:7240710 20180130 OMIM 9018333 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:0070070 autosomal dominant intellectual developmental disorder 40 ISO RGD:1322656 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 PMID:21063390|PMID:23020937|PMID:24781758|PMID:25533962|PMID:25741868|PMID:25741869|PMID:26340335|PMID:26751395|PMID:27148580|PMID:28492532 9018333 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:1059 intellectual disability ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disability with severe speech impairment PMID:23020937|PMID:24781758|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580 9018333 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:2222 factor X deficiency ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 9018333 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:630 genetic disease ISO RGD:1322656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21063390|PMID:23020937|PMID:24781758|PMID:25533962|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580|PMID:28492532 9018333 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9018333 Champ1 chromosome alignment maintaining phosphoprotein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1322656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9018343 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1348303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 9018343 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:2717 Bloom syndrome ISO RGD:1348303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9018343 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:630 genetic disease ISO RGD:1348303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018343 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:9003370 Dyslipidemias ISO RGD:1348303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30585412 9018343 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1348303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 9018343 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:9256 colorectal cancer ISO RGD:1348303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9018343 Pex11a peroxisomal biogenesis factor 11 alpha gene DOID:9970 obesity ISO RGD:1348303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30585412 9018351 Slc24a4 solute carrier family 24 member 4 gene DOID:0080054 achondrogenesis type IA ISO RGD:1314247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 9018351 Slc24a4 solute carrier family 24 member 4 gene DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 ISO RGD:1314247 D RGD:7240710 20180130 OMIM 9018351 Slc24a4 solute carrier family 24 member 4 gene DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 ISO RGD:1314247 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 PMID:23375655|PMID:24621671|PMID:25741868 9018351 Slc24a4 solute carrier family 24 member 4 gene DOID:2187 amelogenesis imperfecta ISO RGD:1314247 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta 9018351 Slc24a4 solute carrier family 24 member 4 gene DOID:630 genetic disease ISO RGD:1314247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018351 Slc24a4 solute carrier family 24 member 4 gene DOID:9004829 Skin/Hair/Eye Pigmentation, Variation In, 6 ISO RGD:1314247 D RGD:7240710 20221130 OMIM 9018351 Slc24a4 solute carrier family 24 member 4 gene DOID:9004829 Skin/Hair/Eye Pigmentation, Variation In, 6 ISO RGD:1314247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR PMID:17952075 9018375 LOC102026625 olfactory receptor 6Y1 gene DOID:1540 parathyroid carcinoma ISO RGD:1347188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9018375 LOC102026625 olfactory receptor 6Y1 gene DOID:630 genetic disease ISO RGD:1347188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018375 LOC102026625 olfactory receptor 6Y1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1347188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9018379 Foxj2 forkhead box J2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1344904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9018379 Foxj2 forkhead box J2 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 9018379 Foxj2 forkhead box J2 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 9018379 Foxj2 forkhead box J2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9018379 Foxj2 forkhead box J2 gene DOID:0111621 Temtamy syndrome ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9018379 Foxj2 forkhead box J2 gene DOID:630 genetic disease ISO RGD:1344904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018379 Foxj2 forkhead box J2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1344904 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9018398 Med26 mediator complex subunit 26 gene DOID:630 genetic disease ISO RGD:1352604 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018406 Rbl2 RB transcriptional corepressor like 2 gene DOID:630 genetic disease ISO RGD:733260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018406 Rbl2 RB transcriptional corepressor like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9018406 Rbl2 RB transcriptional corepressor like 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:733260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16038780 9018406 Rbl2 RB transcriptional corepressor like 2 gene DOID:9002762 Ovarian Neoplasms ISO RGD:733260 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16936753 9018406 Rbl2 RB transcriptional corepressor like 2 gene DOID:9003939 BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME ISO RGD:733260 D RGD:7240710 20220316 OMIM 9018406 Rbl2 RB transcriptional corepressor like 2 gene DOID:9003939 BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME ISO RGD:733260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brunet-Wagner neurodevelopmental syndrome PMID:25741868|PMID:32105419 9018453 LOC102029126 uncharacterized LOC102029126 gene DOID:5419 schizophrenia ISO RGD:4140188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9018464 Cd276 CD276 molecule gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604282 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9018464 Cd276 CD276 molecule gene DOID:2717 Bloom syndrome ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9018464 Cd276 CD276 molecule gene DOID:2843 long QT syndrome ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 9018464 Cd276 CD276 molecule gene DOID:3320 Tay-Sachs disease ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 9018464 Cd276 CD276 molecule gene DOID:5419 schizophrenia ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9018464 Cd276 CD276 molecule gene DOID:630 genetic disease ISO RGD:1604282 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018464 Cd276 CD276 molecule gene DOID:684 hepatocellular carcinoma ISO RGD:1604282 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16217749 9018464 Cd276 CD276 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9018464 Cd276 CD276 molecule gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604282 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30614027 9018464 Cd276 CD276 molecule gene DOID:9256 colorectal cancer ISO RGD:1604282 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9018477 Muc4 mucin 4, cell surface associated gene DOID:0050625 biliary tract benign neoplasm ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:bile,biliary tract PMID:18475301|REF_RGD_ID:2324916 9018477 Muc4 mucin 4, cell surface associated gene DOID:0080178 mucositis ISO RGD:621331 D RGD:9068941 20200609 RGD protein:decreased expression:intestine PMID:18998135|REF_RGD_ID:2303603 9018477 Muc4 mucin 4, cell surface associated gene DOID:0080599 Coronavirus infectious disease ISO RGD:735894 D RGD:9068941 20220825 MouseDO 9018477 Muc4 mucin 4, cell surface associated gene DOID:10754 otitis media ISO RGD:621331 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections;mRNA:increased expression:middle ear PMID:11576628|REF_RGD_ID:2303743 9018477 Muc4 mucin 4, cell surface associated gene DOID:10754 otitis media ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:middle ear PMID:14690056|REF_RGD_ID:7349395 9018477 Muc4 mucin 4, cell surface associated gene DOID:11204 allergic conjunctivitis ISO RGD:735894 D RGD:9068941 20200609 RGD PMID:11581187|REF_RGD_ID:7349400 9018477 Muc4 mucin 4, cell surface associated gene DOID:11204 allergic conjunctivitis severity ISO RGD:735893 D RGD:9068941 20200609 RGD PMID:17177679|REF_RGD_ID:7349351 9018477 Muc4 mucin 4, cell surface associated gene DOID:11382 corneal neovascularization ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:17169838|REF_RGD_ID:7349391 9018477 Muc4 mucin 4, cell surface associated gene DOID:12895 keratoconjunctivitis sicca ISO RGD:731951 D RGD:9068941 20200609 RGD PMID:14507865|REF_RGD_ID:7349377 9018477 Muc4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD PMID:17595659|REF_RGD_ID:2324922 9018477 Muc4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11751498|REF_RGD_ID:2324891 9018477 Muc4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell PMID:16274046|REF_RGD_ID:2324931 9018477 Muc4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:20303649|REF_RGD_ID:2324914 9018477 Muc4 mucin 4, cell surface associated gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD PMID:17406026|REF_RGD_ID:2324923 9018477 Muc4 mucin 4, cell surface associated gene DOID:3030 mucinous adenocarcinoma severity ISO RGD:735893 D RGD:9068941 20200609 RGD associated with pancreatic disease;protein:increased expression:pancreas PMID:17079945|REF_RGD_ID:2324927 9018477 Muc4 mucin 4, cell surface associated gene DOID:3587 pancreatic ductal carcinoma ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12657964|REF_RGD_ID:2324946 9018477 Muc4 mucin 4, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16049287|REF_RGD_ID:2324942 9018477 Muc4 mucin 4, cell surface associated gene DOID:3905 lung carcinoma ISO RGD:735893 D RGD:9068941 20200609 RGD protein:altered expression:lung PMID:11596032|REF_RGD_ID:5131258 9018477 Muc4 mucin 4, cell surface associated gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:trachea PMID:17126950|REF_RGD_ID:5131208 9018477 Muc4 mucin 4, cell surface associated gene DOID:4450 renal cell carcinoma ISO RGD:735893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 9018477 Muc4 mucin 4, cell surface associated gene DOID:4608 common bile duct neoplasm ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:8143972|REF_RGD_ID:2324890 9018477 Muc4 mucin 4, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:19082442|REF_RGD_ID:2303602 9018477 Muc4 mucin 4, cell surface associated gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:14752841|REF_RGD_ID:2324944 9018477 Muc4 mucin 4, cell surface associated gene DOID:9000011 Gallbladder Neoplasms ISO RGD:735893 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gallbladder PMID:18397823|REF_RGD_ID:2324921 9018477 Muc4 mucin 4, cell surface associated gene DOID:9000965 Neoplasm Metastasis ISO RGD:621331 D RGD:9068941 20200609 RGD associated with Melanoma PMID:10918186|REF_RGD_ID:2303746 9018477 Muc4 mucin 4, cell surface associated gene DOID:9002159 Liver Reperfusion Injury ISO RGD:621331 D RGD:9068941 20200609 RGD mRNA:decreased expression:bile duct PMID:21775928|REF_RGD_ID:7364757 9018477 Muc4 mucin 4, cell surface associated gene DOID:9002231 Fetal Growth Retardation ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:19287349|REF_RGD_ID:7349369 9018477 Muc4 mucin 4, cell surface associated gene DOID:9002304 Prostatic Neoplasms ISO RGD:735893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9018477 Muc4 mucin 4, cell surface associated gene DOID:9002936 Bile Duct Neoplasms disease_progression ISO RGD:735893 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:16857800|REF_RGD_ID:2324929 9018477 Muc4 mucin 4, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:621331 D RGD:9068941 20200609 RGD mRNA:increased expression:intestine PMID:16689826|REF_RGD_ID:2303607 9018477 Muc4 mucin 4, cell surface associated gene DOID:9002992 Nematode Infections ISO RGD:735894 D RGD:9068941 20200609 RGD protein:increased expression:cecum, glycocalyx PMID:21155842|REF_RGD_ID:7364766 9018477 Muc4 mucin 4, cell surface associated gene DOID:9003281 Spontaneous Abortions ISO RGD:735893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9018477 Muc4 mucin 4, cell surface associated gene DOID:9004283 Transplant Rejection ISO RGD:621331 D RGD:9068941 20200609 RGD PMID:12717211|REF_RGD_ID:7349372 9018510 Chid1 chitinase domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9018510 Chid1 chitinase domain containing 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1604307 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9018510 Chid1 chitinase domain containing 1 gene DOID:0111969 immunodeficiency 39 ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 9018510 Chid1 chitinase domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9018510 Chid1 chitinase domain containing 1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9018510 Chid1 chitinase domain containing 1 gene DOID:630 genetic disease ISO RGD:1604307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018510 Chid1 chitinase domain containing 1 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1604307 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050952 spastic ataxia ISO RGD:68558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050993 episodic ataxia type 5 ISO RGD:68558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 5 PMID:10762541|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0050993 episodic ataxia type 5 susceptibility ISO RGD:68558 D RGD:7240710 20240214 OMIM 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0110928 nemaline myopathy 2 ISO RGD:68558 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25205138|PMID:28492532 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0111323 idiopathic generalized epilepsy 9 ISO RGD:68558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 9 | ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 6 PMID:10762541|PMID:25741868|PMID:26467025|PMID:28492532 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:0111323 idiopathic generalized epilepsy 9 susceptibility ISO RGD:68558 D RGD:7240710 20240214 OMIM 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:12930 dilated cardiomyopathy susceptibility ISO RGD:68558 D RGD:9068941 20200609 RGD DNA:SNPs:introns: PMID:29495422|REF_RGD_ID:13515053 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:68558 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:10762541|PMID:17576681|PMID:18755274|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28444220|PMID:28492532|PMID:33144682|PMID:35571021|PMID:36360260|PMID:9536098 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:68558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy PMID:10762541|PMID:25741868|PMID:26467025|PMID:28492532 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:630 genetic disease ISO RGD:68558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:9001793 Generalized Epilepsy ISO RGD:68558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10762541 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:9001793 Generalized Epilepsy ISO RGD:68558 D RGD:9068941 20200609 RGD PMID:10762541|REF_RGD_ID:734674 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:9004866 Ataxia ISO RGD:68558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10762541 9018540 Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 gene DOID:963 episodic ataxia ISO RGD:68558 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Hereditary episodic ataxia 9018562 Bmp2k BMP2 inducible kinase gene DOID:630 genetic disease ISO RGD:1604611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018582 Ctsc cathepsin C gene DOID:1059 intellectual disability ISO RGD:736291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9018582 Ctsc cathepsin C gene DOID:10763 hypertension ISO RGD:2445 D RGD:9068941 20200609 RGD PMID:657443|REF_RGD_ID:1599651 9018582 Ctsc cathepsin C gene DOID:1474 aggressive periodontitis ISO RGD:736291 D RGD:7240710 20180130 OMIM 9018582 Ctsc cathepsin C gene DOID:1474 aggressive periodontitis ISO RGD:736291 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aggressive Periodontitis | ClinVar Annotator: match by term: Periodontitis, aggressive 1 PMID:10581027|PMID:10662808|PMID:11180012|PMID:14974080|PMID:15585850|PMID:18723326|PMID:19816003|PMID:23311634|PMID:24033266|PMID:24936511|PMID:25741868|PMID:28317349|PMID:28492532|PMID:34515563 9018582 Ctsc cathepsin C gene DOID:2316 brain ischemia ISO RGD:2445 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:12843783|REF_RGD_ID:1599640 9018582 Ctsc cathepsin C gene DOID:3042 allergic contact dermatitis ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 9018582 Ctsc cathepsin C gene DOID:3388 periodontal disease ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10662807 9018582 Ctsc cathepsin C gene DOID:3389 Papillon-Lefevre disease ISO RGD:736291 D RGD:7240710 20180130 OMIM 9018582 Ctsc cathepsin C gene DOID:3389 Papillon-Lefevre disease ISO RGD:736291 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome PMID:10581027|PMID:10593994|PMID:10662807|PMID:10662808|PMID:11106356|PMID:11180012|PMID:11180601|PMID:11886537|PMID:12112662|PMID:14974080|PMID:15585850|PMID:18723326|PMID:18809751|PMID:19816003|PMID:23108224|PMID:23311634|PMID:24033266|PMID:24936511|PMID:25741868|PMID:26205983|PMID:26957212|PMID:27062382|PMID:28242153|PMID:28317349|PMID:28492532|PMID:29410039|PMID:29925593|PMID:31925812|PMID:33586345|PMID:34515563 9018582 Ctsc cathepsin C gene DOID:5419 schizophrenia ISO RGD:10421 D RGD:9068941 20220825 MouseDO OMIM:181500 9018582 Ctsc cathepsin C gene DOID:630 genetic disease ISO RGD:736291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9018582 Ctsc cathepsin C gene DOID:9000217 Stomach Neoplasms ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9018582 Ctsc cathepsin C gene DOID:9000918 Disease Progression ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9018582 Ctsc cathepsin C gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:736291 D RGD:7240710 20180130 OMIM 9018582 Ctsc cathepsin C gene DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis ISO RGD:736291 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:10581027|PMID:10593994|PMID:10662807|PMID:10662808|PMID:11106356|PMID:11180012|PMID:11180601|PMID:11886537|PMID:11922261|PMID:12083812|PMID:12112662|PMID:14974080|PMID:15111626|PMID:15585850|PMID:15606524|PMID:15727652|PMID:15857086|PMID:16199547|PMID:16332247|PMID:17576681|PMID:17943190|PMID:18294227|PMID:18401176|PMID:18723326|PMID:18809751|PMID:1886537|PMID:18945301|PMID:19763152|PMID:19816003|PMID:20236208|PMID:20307669|PMID:22406018|PMID:23108224|PMID:23311634|PMID:23397598|PMID:24033266|PMID:24936511|PMID:25741868|PMID:26205983|PMID:26957212|PMID:27062382|PMID:28242153|PMID:28317349|PMID:28492532|PMID:29410039|PMID:29925593|PMID:30548430|PMID:30854815|PMID:31282082|PMID:31925812|PMID:31980526|PMID:33580910|PMID:34341640|PMID:34515563|PMID:9536098 9018582 Ctsc cathepsin C gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2445 D RGD:9068941 20200609 RGD PMID:843913|REF_RGD_ID:1599653 9018582 Ctsc cathepsin C gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2445 D RGD:9068941 20200609 RGD PMID:148980|REF_RGD_ID:1599652 9018582 Ctsc cathepsin C gene DOID:9007102 Myocardial Ischemia ISO RGD:736291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9018582 Ctsc cathepsin C gene DOID:9970 obesity ISO RGD:2445 D RGD:9068941 20200609 RGD PMID:3705543|REF_RGD_ID:1599645 9018592 Ccdc25 coiled-coil domain containing 25 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1605370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 9018592 Ccdc25 coiled-coil domain containing 25 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1605370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 9018592 Ccdc25 coiled-coil domain containing 25 gene DOID:630 genetic disease ISO RGD:1605370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018613 Mlph melanophilin gene DOID:0060834 Griscelli syndrome type 3 ISO RGD:1321808 D RGD:7240710 20180130 OMIM 9018613 Mlph melanophilin gene DOID:0060834 Griscelli syndrome type 3 ISO RGD:1321808 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 3 PMID:12148598|PMID:12897212|PMID:21883982|PMID:22711375|PMID:25741868|PMID:26337734|PMID:26915675|PMID:28492532|PMID:30389201|PMID:31721180|PMID:32864751 9018613 Mlph melanophilin gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1321808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9018613 Mlph melanophilin gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1321808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9018613 Mlph melanophilin gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1321808 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 9018613 Mlph melanophilin gene DOID:1059 intellectual disability ISO RGD:1321808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9018613 Mlph melanophilin gene DOID:630 genetic disease ISO RGD:1321808 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9018613 Mlph melanophilin gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1321808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9018613 Mlph melanophilin gene DOID:987 alopecia ISO RGD:12374033 D RGD:9068941 20230824 OMIA Coat colour, dilution, MLPH-related PMID:11887392|PMID:12358609|PMID:15016299|PMID:15958794|PMID:15960853|PMID:16131833|PMID:16674733|PMID:17519392|PMID:19436637|PMID:19521467|PMID:29349785|PMID:32531980|PMID:34088257|PMID:34751460|PMID:35510419|PMID:36427679|PMID:37582787|PMID:5019544|PMID:591423|PMID:7725619|PMID:8257319|PMID:8533225|PMID:8735542|PMID:9789677 9018643 Tjap1 tight junction associated protein 1 gene DOID:0050444 infantile Refsum disease ISO RGD:1318637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9018643 Tjap1 tight junction associated protein 1 gene DOID:630 genetic disease ISO RGD:1318637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018643 Tjap1 tight junction associated protein 1 gene DOID:905 Zellweger syndrome ISO RGD:1318637 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9018676 Usp43 ubiquitin specific peptidase 43 gene DOID:630 genetic disease ISO RGD:1317758 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018695 Ager advanced glycosylation end product-specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:12651605|REF_RGD_ID:7243248 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0050073 invasive aspergillosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21423669|REF_RGD_ID:5508765 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:737312 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0050589 inflammatory bowel disease ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21939913|REF_RGD_ID:6767556 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0050697 chorioamnionitis ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:22578261|REF_RGD_ID:6767308 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0050850 diabetic encephalopathy treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23529380|PMID:24291733|REF_RGD_ID:7244255|REF_RGD_ID:8553040 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0050851 glomerulosclerosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23046363|REF_RGD_ID:7243247 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0050851 glomerulosclerosis treatment ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:20554645|REF_RGD_ID:7244139 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0050855 renal fibrosis ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (kidney) PMID:22669512|REF_RGD_ID:7245533 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0050855 renal fibrosis ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22698914|REF_RGD_ID:7243851 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0050855 renal fibrosis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:21704028|REF_RGD_ID:7244186 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0060224 atrial fibrillation ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21652096|REF_RGD_ID:6767560 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0080162 lupus nephritis ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) PMID:22513366|REF_RGD_ID:6767309 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0080199 colorectal carcinoma treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:22467055|REF_RGD_ID:7245559 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0080322 polycystic kidney disease ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:kidney (mouse) PMID:20606421|REF_RGD_ID:7244164 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0080820 occupational asthma ISO RGD:737312 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33075463 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:0080832 mild cognitive impairment ISO RGD:737312 D RGD:9068941 20230406 RGD PMID:22415896|REF_RGD_ID:7245561 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:10283 prostate cancer ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:15666359|REF_RGD_ID:7243251 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:10646 schizotypal personality disorder susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G82S rs2070600 (human) PMID:22146151|REF_RGD_ID:6767315 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:23396166|REF_RGD_ID:7244266 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:brain (human) PMID:8751438|REF_RGD_ID:1300365 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737312 D RGD:9068941 20230406 RGD PMID:22415896|REF_RGD_ID:7245561 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:22745485|REF_RGD_ID:6784502 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease ISO RGD:737313 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, cerebral cortex (mouse) PMID:23164356|REF_RGD_ID:7244287 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23396166|REF_RGD_ID:7244266 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:10652 Alzheimer's disease treatment ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21593432|REF_RGD_ID:7245965 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:10763 hypertension ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:19018797|REF_RGD_ID:2325653 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:10763 hypertension ISO RGD:737312 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32147540 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:10941 intracranial aneurysm ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23844137|REF_RGD_ID:8547935 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:11394 adult respiratory distress syndrome ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:16456142|REF_RGD_ID:1625343 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:11476 osteoporosis ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA:increased expression:proximal end of left femur (rat) PMID:22036861|REF_RGD_ID:7245948 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:11476 osteoporosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21542009|REF_RGD_ID:6767561 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:11713 diabetic angiopathy ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20372816 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:11981 morbid obesity treatment ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:22828946|REF_RGD_ID:7243249 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:12217 Lewy body dementia ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16141792 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1287 cardiovascular system disease ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:increased expression:myocardium, aorta (rat) PMID:20056977|REF_RGD_ID:7244145 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:polymorphism:promoter:-374T>A (human) PMID:12606536|REF_RGD_ID:1566451 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1287 cardiovascular system disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies; DNA:deletion, polymorphisms, haplotype:promoter:g.-407_-345del, g.-374T>A, g.-429T>C (human) PMID:20040351|REF_RGD_ID:7244158 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:12918 thromboangiitis obliterans ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:femoral artery (rat) PMID:23069071|REF_RGD_ID:7207785 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:12918 thromboangiitis obliterans treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23069071|REF_RGD_ID:7207785 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:13207 proliferative diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:16364297|REF_RGD_ID:8695978 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:13378 Kawasaki disease severity ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:22337222|REF_RGD_ID:8695960 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:13564 aspergillosis ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-374T>A (human) PMID:22114731|REF_RGD_ID:8695981 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1395 schistosomiasis ISO RGD:737313 D RGD:9068941 20200609 RGD protein:decreased expression:lung (mouse) PMID:23369670|REF_RGD_ID:7243187 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:14115 toxic shock syndrome ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21270403|REF_RGD_ID:6767566 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1485 cystic fibrosis ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:24127697|REF_RGD_ID:8695959 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1485 cystic fibrosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:24127697|REF_RGD_ID:8695959 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1485 cystic fibrosis severity ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:promoter:g.-429T>C rs1800625 (human) PMID:21993476|REF_RGD_ID:6767553 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1793 pancreatic cancer ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20398646|REF_RGD_ID:2325643 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1875 impotence treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23698784|REF_RGD_ID:7244246 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1891 optic nerve disease ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Alzheimer Disease;protein:increased expression:optic nerve PMID:19277685|REF_RGD_ID:8695971 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1909 melanoma treatment ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:15009731|REF_RGD_ID:8695970 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:20835270|REF_RGD_ID:6784516 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19939336|PMID:20372816 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:decreased expression:plasma (human) PMID:21906738|REF_RGD_ID:6767557 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21418204|PMID:22552116|REF_RGD_ID:6784514|REF_RGD_ID:6784515 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:1936 atherosclerosis treatment ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:22038096|PMID:23936343|REF_RGD_ID:7245947|REF_RGD_ID:8695994 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:224 transient cerebral ischemia ISO RGD:69258 D RGD:9068941 20200609 RGD protein:altered expression:cerebral cortex, striatum (rat) PMID:22528836|REF_RGD_ID:7245542 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:224 transient cerebral ischemia ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:brain, plasma PMID:23288172|REF_RGD_ID:8696004 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:2316 brain ischemia ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA:increased expression:pyramidal cell, hippocampus PMID:12618340|REF_RGD_ID:1625348 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:2377 multiple sclerosis susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G82S rs2070600 (human) PMID:21511691|REF_RGD_ID:6767562 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:2508 Takayasu's arteritis ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:20579752|REF_RGD_ID:8695992 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:26 pancreas disease ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036142 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:2773 contact dermatitis ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23594597|REF_RGD_ID:8695987 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:2841 asthma ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21920897|REF_RGD_ID:6767554 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:2841 asthma ISO RGD:737312 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:33075463 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:2841 asthma onset ISO RGD:69258 D RGD:9068941 20200609 RGD protein:decreased expression:lung (rat) PMID:23304218|REF_RGD_ID:7244279 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:2841 asthma treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23304218|REF_RGD_ID:7244279 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3008 invasive ductal carcinoma ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:22366088|REF_RGD_ID:8695990 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3021 acute kidney failure ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21811803|REF_RGD_ID:7243868 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:20133931|REF_RGD_ID:6767312 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3393 coronary artery disease ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome PMID:22337222|REF_RGD_ID:8695960 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3393 coronary artery disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G82S (human) PMID:20668462|REF_RGD_ID:6767569 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3407 carotid artery disease ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus, cerebral cortex (rat) PMID:21813211|REF_RGD_ID:7245955 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3407 carotid artery disease ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21906738|REF_RGD_ID:6767557 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24211797|REF_RGD_ID:8696008 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3525 middle cerebral artery infarction ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25446913 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3526 cerebral infarction ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:23288172|REF_RGD_ID:8696004 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3770 pulmonary fibrosis ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:24226635|REF_RGD_ID:8695997 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3770 pulmonary fibrosis ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:22669512|REF_RGD_ID:7245533 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:3908 lung non-small cell carcinoma ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung (human) PMID:15539404|REF_RGD_ID:7245515 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:399 tuberculosis severity ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:22698798|REF_RGD_ID:6767307 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:4001 ovarian carcinoma ISO RGD:737312 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:28811376 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:418 systemic scleroderma ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18825489|REF_RGD_ID:8695973 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:418 systemic scleroderma ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18825489|REF_RGD_ID:8695973 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:4195 hyperglycemia ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036142 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (human) PMID:21947243|REF_RGD_ID:7244181 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:4676 uremia ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:peritoneal cavity lining PMID:16757496|REF_RGD_ID:1625341 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:5082 liver cirrhosis ISO RGD:737312 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (liver) PMID:22669512|REF_RGD_ID:7245533 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:5199 ureteral obstruction ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23677242|REF_RGD_ID:7243949 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:520 aortic disease treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22644855|REF_RGD_ID:7245538 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:5419 schizophrenia susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.G82S rs2070600 (human) PMID:22146151|REF_RGD_ID:6767315 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:557 kidney disease ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Obesity PMID:21412218|REF_RGD_ID:7243938 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:576 proteinuria susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1; DNA:polymorphism:promoter:-374T>A (human) PMID:12606536|REF_RGD_ID:1566451 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:5844 myocardial infarction ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle myocardium (rat) PMID:19910580|REF_RGD_ID:2325647 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:5844 myocardial infarction susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-429T>C (human) PMID:16728681|REF_RGD_ID:1625333 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:6000 congestive heart failure severity ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:20685687|REF_RGD_ID:7244134 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:630 genetic disease ISO RGD:737312 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:6432 pulmonary hypertension ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:21041689|REF_RGD_ID:7244258 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:7148 rheumatoid arthritis ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16385501 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:7148 rheumatoid arthritis ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:20541603|REF_RGD_ID:7244141 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:77 gastrointestinal system disease ISO RGD:69258 D RGD:9068941 20200609 RGD Diabetic Gastrointestinal Disorder, associated with Diabetes Mellitus, Experimental; mRNA:increased expression:jejunum (rat) PMID:23002359|REF_RGD_ID:7244385 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:77 gastrointestinal system disease treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23002359|REF_RGD_ID:7244385 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:783 end stage renal disease ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21822023|REF_RGD_ID:7243867 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21432860|REF_RGD_ID:7243958 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21822023|REF_RGD_ID:7243867 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease disease_progression ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:g.-374T>A (human) PMID:23593165|REF_RGD_ID:7243185 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease severity ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, intron:g.-429T>C, g.2184A>G (human) PMID:20185929|REF_RGD_ID:7242570 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:784 chronic kidney disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:polymorphism:promoter:g.-429T>C (human) PMID:20353610|REF_RGD_ID:7244142 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:824 periodontitis ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:periodontium (rat) PMID:22924807|REF_RGD_ID:7245487 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:824 periodontitis ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:22795565|REF_RGD_ID:6784499 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8398 osteoarthritis ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16948116 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8398 osteoarthritis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23894457|REF_RGD_ID:8695985 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8515 Cor pulmonale ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:21450080|REF_RGD_ID:6767563 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:874 bacterial pneumonia severity ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21629785|REF_RGD_ID:6767559 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8881 rosacea ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21347371|REF_RGD_ID:6767564 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8893 psoriasis ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP: :2184A>G (human) PMID:12029499|REF_RGD_ID:8695975 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8893 psoriasis no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.G82S, 1704G>T, 2245A>G (human) PMID:12029499|REF_RGD_ID:8695975 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:retina inner nuclear layer, retinal ganglion cell (rat) PMID:23587252|REF_RGD_ID:7244248 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :2245G>A (human) PMID:22116960|REF_RGD_ID:8695967 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human) PMID:16969646|REF_RGD_ID:8695958 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-429T>C (human) PMID:11375354|REF_RGD_ID:8695966 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:23091285|REF_RGD_ID:7244174 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy no_association ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A, - 429T>C (human) PMID:14704946|REF_RGD_ID:8695965 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy no_association ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphisms: :p.G82S, 1704G>T, 2184A>G (human) PMID:22427038|REF_RGD_ID:8695983 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy no_association ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphisms:promoter, cds, intron:g.-443T>C, p.G82S, g.1704G>T (rs1800625, rs2070600, rs184003) (human) PMID:22475522|REF_RGD_ID:7244176 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy severity ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:SNP:promoter:-374T>A (human) PMID:16969646|REF_RGD_ID:8695958 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:missense mutation, snp, haplotype:cds, intron:p.G82S, g.1704G>T (human) PMID:19542745|REF_RGD_ID:7244175 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:23146804|REF_RGD_ID:7244369 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:8947 diabetic retinopathy treatment ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22171162|REF_RGD_ID:8695979 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (rat) PMID:20195207|REF_RGD_ID:2325645 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9000040 Hypertrophy ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19553346 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9000099 Experimental Colitis treatment ISO RGD:69258 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9000310 Lung Injury ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Hyperoxia; mRNA, protein:increased expression:lung (rat) PMID:22093994|REF_RGD_ID:7245945 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:24291745|REF_RGD_ID:8696000 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9000528 Coronary Disease ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Heart Failure; protein:increased expression:plasma (human) PMID:20685687|REF_RGD_ID:7244134 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:23396398|REF_RGD_ID:7243186 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9000784 Fibrosis ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12874465|REF_RGD_ID:1625346 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9000815 Aortic Calcification ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) PMID:23497312|REF_RGD_ID:7244260 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9000998 Brain Injuries ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:brain (rat) PMID:22491548|REF_RGD_ID:7245557 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9000998 Brain Injuries ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:22915134|PMID:24859607|REF_RGD_ID:7245513|REF_RGD_ID:8696001 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9001542 Albuminuria ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) PMID:21607631|REF_RGD_ID:7243944 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9001542 Albuminuria ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:20627935|REF_RGD_ID:7244135 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9001542 Albuminuria treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21796806|REF_RGD_ID:7244184 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9001686 Acute Coronary Syndrome ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:21663912|REF_RGD_ID:5508825 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002153 Chronic Allograft Dysfunction treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:22217518|PMID:23769041|REF_RGD_ID:7245568|REF_RGD_ID:8695995 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002159 Liver Reperfusion Injury ISO RGD:69258 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21431875|REF_RGD_ID:10402078 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney cortex, glomerulus PMID:19142024|REF_RGD_ID:2325651 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphism: :1704G>T (human) PMID:14747204|REF_RGD_ID:8695982 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:23091285|REF_RGD_ID:7244174 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:polymorphisms, haplotype:cds, intron:p.G82S, g.2184A>G (rs2070600, rs3134940) (human) PMID:21533139|REF_RGD_ID:7244187 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21856399|REF_RGD_ID:7243852 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:12651605|REF_RGD_ID:7243248 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002211 Hyperalgesia ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002211 Hyperalgesia treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:24077211|PMID:25014009|REF_RGD_ID:7364865|REF_RGD_ID:8695980 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:24599045|REF_RGD_ID:8696002 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002488 Peritoneal Fibrosis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies PMID:19759273|REF_RGD_ID:7244162 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9002514 Neointima treatment ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:24132651|REF_RGD_ID:8695998 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9003139 Cardiac Fibrosis ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac atrium (rat) PMID:21802905|REF_RGD_ID:7245957 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24630381|REF_RGD_ID:8696003 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9004464 Skin Neoplasms ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:18208974|REF_RGD_ID:8695988 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9004484 Sepsis treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:19623040|REF_RGD_ID:10402067 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9004610 Acute Lung Injury ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Hyperoxia; protein:decreased expression:bronchoalveolar lavage fluid (rat) PMID:23576805|REF_RGD_ID:7244254 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:decreased expression:plasma (human) PMID:21470837|REF_RGD_ID:7243956 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9005372 Inflammation ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Kidney Failure, Chronic; protein:decreased expression:plasma (human) PMID:21906738|REF_RGD_ID:6767557 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9005372 Inflammation ISO RGD:737312 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:22178603|PMID:33075463 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:lacrimal gland PMID:16283249|REF_RGD_ID:1625335 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737313 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (mouse) PMID:20801062|REF_RGD_ID:7243964 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:22476978|REF_RGD_ID:7245558 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21458563|REF_RGD_ID:7244188 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9005873 Tongue Neoplasms treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:17374970|REF_RGD_ID:1625338 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9005968 Neuralgia ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25014009 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9006182 Carotid Artery Injuries ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:21680901|REF_RGD_ID:7245963 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9006285 Epidermal Hyperplasia ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:18208974|REF_RGD_ID:8695988 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9006332 Vascular Calcification ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic; protein:decreased expression:serum (human) PMID:21643645|REF_RGD_ID:7243940 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9006332 Vascular Calcification ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:21099228|REF_RGD_ID:7243959 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9006332 Vascular Calcification disease_progression ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (mouse) PMID:22305260|REF_RGD_ID:7245562 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:heart (rat) PMID:23251674|REF_RGD_ID:7244283 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:23251674|REF_RGD_ID:7244283 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9007096 Stroke susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-374T>A (human) PMID:16728681|REF_RGD_ID:1625333 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9007096 Stroke treatment ISO RGD:69258 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21683770|REF_RGD_ID:7245961 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9007102 Myocardial Ischemia ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human) PMID:15896660|REF_RGD_ID:8695969 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9007480 Hyperoxia ISO RGD:69258 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:17343756|REF_RGD_ID:1625339 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9007480 Hyperoxia treatment ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:22883037|REF_RGD_ID:7245514 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:heart (rat) PMID:16505177|REF_RGD_ID:1625342 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9008212 Diabetic Foot ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood PMID:21941211|REF_RGD_ID:6767555 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737312 D RGD:9068941 20200609 RGD PMID:18058469|REF_RGD_ID:8695964 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9008939 Breast Neoplasms ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :rs184003 (human) PMID:24619131|REF_RGD_ID:8695984 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9008939 Breast Neoplasms no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNPs, insertion/deletion:promoter, :-374T>A, -429T/C (human) PMID:22497255|REF_RGD_ID:8695989 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9065 leishmaniasis ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25014011|REF_RGD_ID:8695986 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9074 systemic lupus erythematosus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human) PMID:22513366|REF_RGD_ID:6767309 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9351 diabetes mellitus susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:23396398|REF_RGD_ID:7243186 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69258 D RGD:9068941 20200609 RGD PMID:19735169|REF_RGD_ID:7244245 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69258 D RGD:9068941 20200609 RGD protein:increased expression:jejunum, intestinal villi (rat) PMID:23403079|REF_RGD_ID:7244262 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP: :2245A>G (human) PMID:11884895|REF_RGD_ID:8695991 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP: :557G>A (rs2070600, p.G82S) (human) PMID:21067572|REF_RGD_ID:8548676 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP: :1704G>T, 2184A>G (human) PMID:11884895|REF_RGD_ID:8695991 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNPs:promoter:-374T>A, -429T/C (human) PMID:22154374|REF_RGD_ID:8695962 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:polymorphisms, deletion:promoter, :-374T>A, -429T>C (human) PMID:15896660|REF_RGD_ID:8695969 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23630304|REF_RGD_ID:7243184 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9540 vascular skin disease no_association ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:polymorphisms, insertion, deletion:multiple (human) PMID:11457670|REF_RGD_ID:8695968 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9540 vascular skin disease susceptibility ISO RGD:737312 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:mutation, SNPs:exon, intron:pG82S, 1704G>T, 2184A>G (human) PMID:11457670|REF_RGD_ID:8695968 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9675 pulmonary emphysema ISO RGD:737312 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30659203 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:737312 D RGD:9068941 20200609 RGD protein:increased expression:vitreous humor PMID:16364297|REF_RGD_ID:8695978 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9743 diabetic neuropathy treatment ISO RGD:737313 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22171162|REF_RGD_ID:8695979 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :557G>A (p.G82S) (human) PMID:10553500|REF_RGD_ID:8695961 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD DNA:SNP:promoter:-374T>A (human) PMID:16969646|REF_RGD_ID:8695958 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:21870072|REF_RGD_ID:7244183 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:18420491|REF_RGD_ID:2325657 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9744 type 1 diabetes mellitus ISO RGD:737313 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex (mouse) PMID:21738623|REF_RGD_ID:7243937 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9970 obesity ISO RGD:737312 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:22761461|REF_RGD_ID:7243250 9018695 Ager advanced glycosylation end-product specific receptor gene DOID:9970 obesity ISO RGD:737313 D RGD:9068941 20200609 RGD PMID:23046363|REF_RGD_ID:7243247 9018738 Smpdl3b sphingomyelin phosphodiesterase acid like 3B gene DOID:630 genetic disease ISO RGD:1316663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018754 Sertad3 SERTA domain containing 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9018754 Sertad3 SERTA domain containing 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9018754 Sertad3 SERTA domain containing 3 gene DOID:2340 craniosynostosis ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 9018754 Sertad3 SERTA domain containing 3 gene DOID:630 genetic disease ISO RGD:1603398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018754 Sertad3 SERTA domain containing 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9018754 Sertad3 SERTA domain containing 3 gene DOID:9269 maple syrup urine disease ISO RGD:1603398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9018760 Pkp1 plakophilin 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1316687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9018760 Pkp1 plakophilin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1316687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9018760 Pkp1 plakophilin 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1316687 D RGD:9068941 20200609 RGD PMID:9326952|REF_RGD_ID:1599084 9018760 Pkp1 plakophilin 1 gene DOID:630 genetic disease ISO RGD:1316687 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9018760 Pkp1 plakophilin 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1316687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 9018760 Pkp1 plakophilin 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1316687 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9018760 Pkp1 plakophilin 1 gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome ISO RGD:1316687 D RGD:7240710 20180130 OMIM 9018760 Pkp1 plakophilin 1 gene DOID:9006397 Ectodermal Dysplasia-Skin Fragility Syndrome ISO RGD:1316687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mcgrath syndrome PMID:10951270|PMID:11994137|PMID:16781314|PMID:24073657|PMID:25741868|PMID:28492532|PMID:9326952 9018760 Pkp1 plakophilin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9018779 Gpc1 glypican 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:730930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9018779 Gpc1 glypican 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:730930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9018779 Gpc1 glypican 1 gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:730930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 9018779 Gpc1 glypican 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:730930 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 9018779 Gpc1 glypican 1 gene DOID:1059 intellectual disability ISO RGD:730930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9018779 Gpc1 glypican 1 gene DOID:630 genetic disease ISO RGD:730930 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018779 Gpc1 glypican 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:730930 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 9018779 Gpc1 glypican 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:730930 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9018792 Ints6 integrator complex subunit 6 gene DOID:0060041 autism spectrum disorder ISO RGD:1319842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9018792 Ints6 integrator complex subunit 6 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1319842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 9018792 Ints6 integrator complex subunit 6 gene DOID:1059 intellectual disability ISO RGD:1319842 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9018792 Ints6 integrator complex subunit 6 gene DOID:630 genetic disease ISO RGD:1319842 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018792 Ints6 integrator complex subunit 6 gene DOID:893 Wilson disease ISO RGD:1319842 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 9018814 Psmd10 proteasome 26S subunit, non-ATPase 10 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:736379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 9018814 Psmd10 proteasome 26S subunit, non-ATPase 10 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9018814 Psmd10 proteasome 26S subunit, non-ATPase 10 gene DOID:12849 autistic disorder ISO RGD:736379 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9018814 Psmd10 proteasome 26S subunit, non-ATPase 10 gene DOID:630 genetic disease ISO RGD:736379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018823 Arhgef7 Rho guanine nucleotide exchange factor 7 gene DOID:2222 factor X deficiency ISO RGD:736143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 9018823 Arhgef7 Rho guanine nucleotide exchange factor 7 gene DOID:630 genetic disease ISO RGD:736143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018888 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0050563 nonsyndromic deafness ISO RGD:736263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:10025409|PMID:10369879|PMID:18786918|PMID:20832469|PMID:20966080|PMID:23717403|PMID:23750663|PMID:24033266|PMID:25116015|PMID:25741868|PMID:28492532|PMID:30311386|PMID:8035838 9018888 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:736263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9018888 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0110558 autosomal dominant nonsyndromic deafness 2A ISO RGD:736263 D RGD:7240710 20180130 OMIM 9018888 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:0110558 autosomal dominant nonsyndromic deafness 2A ISO RGD:736263 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A PMID:10025409|PMID:10369879|PMID:10571947|PMID:10925378|PMID:11450843|PMID:11915881|PMID:12112653|PMID:15699719|PMID:16596322|PMID:17576681|PMID:18030493|PMID:18786918|PMID:18797286|PMID:20301388|PMID:20832469|PMID:20966080|PMID:21242547|PMID:21951272|PMID:22384008|PMID:22420747|PMID:23451214|PMID:23717403|PMID:23750663|PMID:24033266|PMID:25116015|PMID:25741868|PMID:26036578|PMID:26467025|PMID:26515070|PMID:27068579|PMID:28492532|PMID:30311386|PMID:30413759|PMID:31028865|PMID:31995783|PMID:34622280|PMID:8035838|PMID:9126484|PMID:9536098 9018888 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:10003 sensorineural hearing loss ISO RGD:736263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment PMID:19461658|PMID:27081546|PMID:30311386|PMID:34652575 9018888 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:630 genetic disease ISO RGD:736263 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 9018888 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:736263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823764 9018888 Kcnq4 potassium voltage-gated channel subfamily Q member 4 gene DOID:9004538 Hearing Loss ISO RGD:736263 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 9018905 Brox BRO1 domain and CAAX motif containing gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1606705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 9018905 Brox BRO1 domain and CAAX motif containing gene DOID:1540 parathyroid carcinoma ISO RGD:1606705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9018905 Brox BRO1 domain and CAAX motif containing gene DOID:630 genetic disease ISO RGD:1606705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018905 Brox BRO1 domain and CAAX motif containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9018929 Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:0060041 autism spectrum disorder ISO RGD:733161 D RGD:9068941 20231012 MouseDO 9018929 Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:0070377 developmental and epileptic encephalopathy 96 ISO RGD:733160 D RGD:7240710 20210616 OMIM 9018929 Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:0070377 developmental and epileptic encephalopathy 96 ISO RGD:733160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 96 PMID:25741868|PMID:31675180 9018929 Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:3328 temporal lobe epilepsy ISO RGD:621594 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 9018929 Nsf N-ethylmaleimide sensitive factor, vesicle fusing ATPase gene DOID:630 genetic disease ISO RGD:733160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018952 Klf13 KLF transcription factor 13 gene DOID:0060041 autism spectrum disorder ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 9018952 Klf13 KLF transcription factor 13 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1344641 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 9018952 Klf13 KLF transcription factor 13 gene DOID:12849 autistic disorder ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9018952 Klf13 KLF transcription factor 13 gene DOID:1682 congenital heart disease ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart disease 9018952 Klf13 KLF transcription factor 13 gene DOID:289 endometriosis ISO RGD:1344641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 9018952 Klf13 KLF transcription factor 13 gene DOID:5419 schizophrenia ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9018952 Klf13 KLF transcription factor 13 gene DOID:5844 myocardial infarction ISO RGD:1344641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29122578 9018952 Klf13 KLF transcription factor 13 gene DOID:630 genetic disease ISO RGD:1344641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9018952 Klf13 KLF transcription factor 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9018952 Klf13 KLF transcription factor 13 gene DOID:9256 colorectal cancer ISO RGD:1344641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 9018971 Ciao3 cytosolic iron-sulfur assembly component 3 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 9018971 Ciao3 cytosolic iron-sulfur assembly component 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314335 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 9018971 Ciao3 cytosolic iron-sulfur assembly component 3 gene DOID:1826 epilepsy ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9018971 Ciao3 cytosolic iron-sulfur assembly component 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9018971 Ciao3 cytosolic iron-sulfur assembly component 3 gene DOID:630 genetic disease ISO RGD:1314335 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9018971 Ciao3 cytosolic iron-sulfur assembly component 3 gene DOID:9002189 High Myopia ISO RGD:1314335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 9018986 Epyc epiphycan gene DOID:630 genetic disease ISO RGD:1314212 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019001 Lrit2 leucine rich repeat, Ig-like and transmembrane domains 2 gene DOID:630 genetic disease ISO RGD:1352534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019013 Sv2c synaptic vesicle glycoprotein 2C gene DOID:12377 spinal muscular atrophy ISO RGD:1551020 D RGD:9068941 20211203 RGD protein:decreased expression:transversus abdominis muscle, axon terminus (mouse) PMID:28173138|REF_RGD_ID:11535337 9019013 Sv2c synaptic vesicle glycoprotein 2C gene DOID:630 genetic disease ISO RGD:1346779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019013 Sv2c synaptic vesicle glycoprotein 2C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9019030 Tmprss2 transmembrane serine protease 2 gene DOID:11132 prostatic hypertrophy ISO RGD:1354092 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18338334|REF_RGD_ID:2324904 9019030 Tmprss2 transmembrane serine protease 2 gene DOID:2526 prostate adenocarcinoma disease_progression ISO RGD:1354092 D RGD:9068941 20200609 RGD protein:increased expression, altered localization:prostate gland PMID:18338334|REF_RGD_ID:2324904 9019030 Tmprss2 transmembrane serine protease 2 gene DOID:2945 severe acute respiratory syndrome severity ISO RGD:733656 D RGD:9068941 20200618 RGD PMID:30626688|REF_RGD_ID:30309210 9019059 Aspm assembly factor for spindle microtubules gene DOID:0050453 lissencephaly ISO RGD:1316111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532 9019059 Aspm assembly factor for spindle microtubules gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:1316111 D RGD:7240710 20180130 OMIM 9019059 Aspm assembly factor for spindle microtubules gene DOID:0070280 primary autosomal recessive microcephaly 5 ISO RGD:1316111 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:11067780|PMID:12355089|PMID:14574646|PMID:15355437|PMID:16141009|PMID:16199547|PMID:16673149|PMID:17576681|PMID:17849285|PMID:18414213|PMID:18452193|PMID:19028728|PMID:19332161|PMID:19353628|PMID:19770472|PMID:20301772|PMID:20679666|PMID:20978018|PMID:22823409|PMID:22989186|PMID:23611254|PMID:24033266|PMID:25480035|PMID:25525159|PMID:25741868|PMID:25786579|PMID:26467025|PMID:26548919|PMID:26663670|PMID:26691732|PMID:26846091|PMID:27250695|PMID:28004384|PMID:28492532|PMID:28554332|PMID:29243349|PMID:29388391|PMID:29522511|PMID:29644084|PMID:29706646|PMID:30167849|PMID:30842647|PMID:31680123|PMID:31696992|PMID:31853109|PMID:31934343|PMID:31980526|PMID:32404165|PMID:32677750|PMID:33255631|PMID:34402213|PMID:9536098 9019059 Aspm assembly factor for spindle microtubules gene DOID:0070285 primary autosomal recessive microcephaly 1 ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:19028728|PMID:19332161|PMID:19770472|PMID:20301772|PMID:23611254|PMID:25741868|PMID:26548919|PMID:26691732|PMID:26846091|PMID:28492532|PMID:29243349|PMID:29644084|PMID:31853109|PMID:32677750|PMID:33255631|PMID:34402213 9019059 Aspm assembly factor for spindle microtubules gene DOID:0070296 primary autosomal recessive microcephaly ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:15355437|PMID:16199547|PMID:18414213|PMID:19028728|PMID:20301772|PMID:20679666|PMID:22823409|PMID:23611254|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30842647|PMID:31980526 9019059 Aspm assembly factor for spindle microtubules gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1316111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9019059 Aspm assembly factor for spindle microtubules gene DOID:0080600 COVID-19 ISO RGD:1316111 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9019059 Aspm assembly factor for spindle microtubules gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 9019059 Aspm assembly factor for spindle microtubules gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 9019059 Aspm assembly factor for spindle microtubules gene DOID:10534 stomach cancer ISO RGD:1316111 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:stomach: PMID:26178168|REF_RGD_ID:13439749 9019059 Aspm assembly factor for spindle microtubules gene DOID:1059 intellectual disability ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability PMID:12355089|PMID:18414213|PMID:19770472|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167849 9019059 Aspm assembly factor for spindle microtubules gene DOID:1059 intellectual disability ISO RGD:1316111 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:12355089|PMID:18414213|PMID:19770472|PMID:20301772|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167849 9019059 Aspm assembly factor for spindle microtubules gene DOID:10907 microcephaly ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:19028728|PMID:20301772|PMID:20679666|PMID:22823409|PMID:23611254|PMID:25741868|PMID:26539891|PMID:28492532|PMID:30842647 9019059 Aspm assembly factor for spindle microtubules gene DOID:10907 microcephaly susceptibility ISO RGD:1316111 D RGD:9068941 20200609 RGD PMID:16141009|REF_RGD_ID:1599300 9019059 Aspm assembly factor for spindle microtubules gene DOID:10907 microcephaly treatment ISO RGD:1316111 D RGD:9068941 20200609 RGD PMID:20823249|REF_RGD_ID:13439744 9019059 Aspm assembly factor for spindle microtubules gene DOID:11612 polycystic ovary syndrome ISO RGD:1316111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9019059 Aspm assembly factor for spindle microtubules gene DOID:11832 visual epilepsy susceptibility ISO RGD:1316111 D RGD:9068941 20200609 RGD PMID:16141009|REF_RGD_ID:1599300 9019059 Aspm assembly factor for spindle microtubules gene DOID:1540 parathyroid carcinoma ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9019059 Aspm assembly factor for spindle microtubules gene DOID:2152 ovary epithelial cancer ISO RGD:1316111 D RGD:9068941 20200609 RGD protein:altered expression:ovary, cytoplasm PMID:24830737|REF_RGD_ID:13204746 9019059 Aspm assembly factor for spindle microtubules gene DOID:3068 glioblastoma ISO RGD:1316111 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:18636190|REF_RGD_ID:13439742 9019059 Aspm assembly factor for spindle microtubules gene DOID:3070 high grade glioma disease_progression ISO RGD:1316111 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:20142996|REF_RGD_ID:13442488 9019059 Aspm assembly factor for spindle microtubules gene DOID:630 genetic disease ISO RGD:1316111 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14574646|PMID:17576681|PMID:18414213|PMID:19028728|PMID:19332161|PMID:19770472|PMID:20301772|PMID:23611254|PMID:25741868|PMID:25786579|PMID:26467025|PMID:26548919|PMID:26691732|PMID:26846091|PMID:27250695|PMID:28492532|PMID:29243349|PMID:29644084|PMID:31853109|PMID:32677750|PMID:33255631|PMID:34402213|PMID:9536098 9019059 Aspm assembly factor for spindle microtubules gene DOID:684 hepatocellular carcinoma ISO RGD:1316111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9019059 Aspm assembly factor for spindle microtubules gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1316111 D RGD:9068941 20200609 RGD PMID:18676753|REF_RGD_ID:13439743 9019059 Aspm assembly factor for spindle microtubules gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1316111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9019059 Aspm assembly factor for spindle microtubules gene DOID:9006534 Nervous System Malformations ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 9019059 Aspm assembly factor for spindle microtubules gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9019091 Epha1 EPH receptor A1 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1312265 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868 9019091 Epha1 EPH receptor A1 gene DOID:10652 Alzheimer's disease ISO RGD:1312265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21460840|PMID:21460841 9019091 Epha1 EPH receptor A1 gene DOID:630 genetic disease ISO RGD:1312265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019091 Epha1 EPH receptor A1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19277044 9019112 Slc20a1 solute carrier family 20 member 1 gene DOID:289 endometriosis ISO RGD:1349725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 9019112 Slc20a1 solute carrier family 20 member 1 gene DOID:630 genetic disease ISO RGD:1349725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019112 Slc20a1 solute carrier family 20 member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9019112 Slc20a1 solute carrier family 20 member 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:1349725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26773408 9019112 Slc20a1 solute carrier family 20 member 1 gene DOID:9004397 Calcification of Aortic Valve ISO RGD:1349725 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23308213 9019168 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:0080428 developmental and epileptic encephalopathy 45 ISO RGD:731063 D RGD:7240710 20190315 OMIM 9019168 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:0080428 developmental and epileptic encephalopathy 45 ISO RGD:731063 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 45 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 45 PMID:23934111|PMID:25741868|PMID:26950270|PMID:27273810|PMID:28492532|PMID:31618474 9019168 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:11394 adult respiratory distress syndrome ISO RGD:731063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 9019168 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:12849 autistic disorder ISO RGD:731063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16080114|PMID:16770606 9019168 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:12849 autistic disorder ISO RGD:731063 D RGD:9068941 20200609 RGD PMID:20066485|REF_RGD_ID:6480253 9019168 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:12849 autistic disorder ISO RGD:731063 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2351299, rs4482737, rs3832300(human) PMID:16770606|REF_RGD_ID:6480254 9019168 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:13413 hepatic encephalopathy ISO RGD:2649 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:15929193|REF_RGD_ID:6480237 9019168 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:13413 hepatic encephalopathy ISO RGD:731063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15929193 9019168 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:1826 epilepsy ISO RGD:731063 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 9019168 Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 gene DOID:630 genetic disease ISO RGD:731063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9019187 Lhfpl1 LHFPL tetraspan subfamily member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1601697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9019187 Lhfpl1 LHFPL tetraspan subfamily member 1 gene DOID:12849 autistic disorder ISO RGD:1601697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9019187 Lhfpl1 LHFPL tetraspan subfamily member 1 gene DOID:5419 schizophrenia ISO RGD:1601697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9019187 Lhfpl1 LHFPL tetraspan subfamily member 1 gene DOID:630 genetic disease ISO RGD:1601697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019199 Dspp dentin sialophosphoprotein gene DOID:11476 osteoporosis ISO RGD:2525 D RGD:9068941 20200609 RGD protein:decreased expression:incisor dental pulp (rat) PMID:23974864|REF_RGD_ID:12911019 9019199 Dspp dentin sialophosphoprotein gene DOID:1749 squamous cell carcinoma ISO RGD:69028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21103065 9019199 Dspp dentin sialophosphoprotein gene DOID:3388 periodontal disease ISO RGD:10493 D RGD:9068941 20220825 MouseDO 9019199 Dspp dentin sialophosphoprotein gene DOID:4154 dentinogenesis imperfecta ISO RGD:69028 D RGD:7240710 20180130 OMIM 9019199 Dspp dentin sialophosphoprotein gene DOID:4154 dentinogenesis imperfecta ISO RGD:69028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Dentinogenesis imperfecta | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin PMID:11175779|PMID:11175790|PMID:14758537|PMID:15592686|PMID:16199547|PMID:18456718|PMID:19131317|PMID:21736673|PMID:22243242|PMID:22392858|PMID:25741868|PMID:27993330|PMID:28492532 9019199 Dspp dentin sialophosphoprotein gene DOID:5608 dental pulp calcification ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Denticles | ClinVar Annotator: match by term: Pulpal dysplasia PMID:12354781|PMID:18456718|PMID:25741868|PMID:26788535|PMID:28492532 9019199 Dspp dentin sialophosphoprotein gene DOID:630 genetic disease ISO RGD:69028 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30311386 9019199 Dspp dentin sialophosphoprotein gene DOID:701 dentin dysplasia ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN PMID:25741868|PMID:28492532 9019199 Dspp dentin sialophosphoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:69028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 9019199 Dspp dentin sialophosphoprotein gene DOID:9003089 Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 ISO RGD:69028 D RGD:7240710 20180130 OMIM 9019199 Dspp dentin sialophosphoprotein gene DOID:9003089 Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 ISO RGD:69028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 PMID:11175790|PMID:15592686|PMID:22392858|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 9019199 Dspp dentin sialophosphoprotein gene DOID:9004538 Hearing Loss ISO RGD:69028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868 9019199 Dspp dentin sialophosphoprotein gene DOID:9004572 Dentinogenesis Imperfecta, Shields Type 3 ISO RGD:69028 D RGD:7240710 20180130 OMIM 9019199 Dspp dentin sialophosphoprotein gene DOID:9004572 Dentinogenesis Imperfecta, Shields Type 3 ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta PMID:11175790|PMID:15592686|PMID:22392858|PMID:25741868|PMID:28492532 9019199 Dspp dentin sialophosphoprotein gene DOID:9007364 Mouth Neoplasms ISO RGD:69028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21103065 9019199 Dspp dentin sialophosphoprotein gene DOID:9008389 Dentin Dysplasia, Type 2 ISO RGD:69028 D RGD:7240710 20180130 OMIM 9019199 Dspp dentin sialophosphoprotein gene DOID:9008389 Dentin Dysplasia, Type 2 ISO RGD:69028 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II PMID:25741868|PMID:28492532 9019207 Cenpo centromere protein O gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1603956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 9019207 Cenpo centromere protein O gene DOID:630 genetic disease ISO RGD:1603956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019253 Ccn2 cellular communication network factor 2 gene DOID:0080001 bone disease ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:long bone (rat) PMID:10679821|REF_RGD_ID:632527 9019253 Ccn2 cellular communication network factor 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24154679 9019253 Ccn2 cellular communication network factor 2 gene DOID:10763 hypertension ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16685210 9019253 Ccn2 cellular communication network factor 2 gene DOID:11714 gestational diabetes ISO RGD:731013 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34175429 9019253 Ccn2 cellular communication network factor 2 gene DOID:12236 primary biliary cholangitis ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:19371232|REF_RGD_ID:2314517 9019253 Ccn2 cellular communication network factor 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:621392 D RGD:9068941 20200609 RGD PMID:19902320|REF_RGD_ID:2314357 9019253 Ccn2 cellular communication network factor 2 gene DOID:12932 endomyocardial fibrosis ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:myocardium, cardiomyocyte (rat) PMID:19293040|REF_RGD_ID:2314529 9019253 Ccn2 cellular communication network factor 2 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17121042 9019253 Ccn2 cellular communication network factor 2 gene DOID:13619 extrahepatic cholestasis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28789951 9019253 Ccn2 cellular communication network factor 2 gene DOID:14330 Parkinson's disease ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra (rat) PMID:19463894|REF_RGD_ID:2314505 9019253 Ccn2 cellular communication network factor 2 gene DOID:2394 ovarian cancer ISO RGD:731013 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovarian carcinoma (human) PMID:19382180|REF_RGD_ID:2314512 9019253 Ccn2 cellular communication network factor 2 gene DOID:2773 contact dermatitis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9019253 Ccn2 cellular communication network factor 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus (rat) PMID:15172885|REF_RGD_ID:1601118 9019253 Ccn2 cellular communication network factor 2 gene DOID:299 adenocarcinoma ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 9019253 Ccn2 cellular communication network factor 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (rat) PMID:19659652|REF_RGD_ID:2314483 9019253 Ccn2 cellular communication network factor 2 gene DOID:3770 pulmonary fibrosis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15298857|PMID:15677772|PMID:25815693|PMID:26817844 9019253 Ccn2 cellular communication network factor 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:621392 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 9019253 Ccn2 cellular communication network factor 2 gene DOID:3770 pulmonary fibrosis treatment ISO RGD:731014 D RGD:9068941 20200609 RGD PMID:19154443|REF_RGD_ID:2314537 9019253 Ccn2 cellular communication network factor 2 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20939759|PMID:21258935 9019253 Ccn2 cellular communication network factor 2 gene DOID:397 restrictive cardiomyopathy ISO RGD:621392 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac muscle tissue (rat) PMID:19381071|REF_RGD_ID:2314513 9019253 Ccn2 cellular communication network factor 2 gene DOID:4001 ovarian carcinoma ISO RGD:731013 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:30365097 9019253 Ccn2 cellular communication network factor 2 gene DOID:418 systemic scleroderma ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24706986 9019253 Ccn2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16652398|PMID:17657819|PMID:26396155 9019253 Ccn2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:621392 D RGD:9068941 20230401 RGD PMID:36469291|REF_RGD_ID:243048439 9019253 Ccn2 cellular communication network factor 2 gene DOID:5082 liver cirrhosis ameliorates ISO RGD:731014 D RGD:9068941 20230401 RGD PMID:26946098|PMID:36469291|REF_RGD_ID:243048439|REF_RGD_ID:40925947 9019253 Ccn2 cellular communication network factor 2 gene DOID:5199 ureteral obstruction ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:18987110|REF_RGD_ID:2314607 9019253 Ccn2 cellular communication network factor 2 gene DOID:57 aortic valve insufficiency ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle (rat) PMID:19112094|REF_RGD_ID:2314539 9019253 Ccn2 cellular communication network factor 2 gene DOID:57 aortic valve insufficiency ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21216836 9019253 Ccn2 cellular communication network factor 2 gene DOID:5844 myocardial infarction ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:left ventricle (rat) PMID:18167060|REF_RGD_ID:2314623 9019253 Ccn2 cellular communication network factor 2 gene DOID:5844 myocardial infarction treatment ISO RGD:621392 D RGD:9068941 20200716 RGD PMID:29849775|REF_RGD_ID:35673318 9019253 Ccn2 cellular communication network factor 2 gene DOID:6000 congestive heart failure ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17229371 9019253 Ccn2 cellular communication network factor 2 gene DOID:630 genetic disease ISO RGD:731013 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019253 Ccn2 cellular communication network factor 2 gene DOID:6432 pulmonary hypertension ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery (rat) PMID:19234054|REF_RGD_ID:2314535 9019253 Ccn2 cellular communication network factor 2 gene DOID:7148 rheumatoid arthritis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 9019253 Ccn2 cellular communication network factor 2 gene DOID:850 lung disease ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20939759|PMID:21258935 9019253 Ccn2 cellular communication network factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:621392 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) PMID:19450451|REF_RGD_ID:2314507 9019253 Ccn2 cellular communication network factor 2 gene DOID:9000784 Fibrosis ISO RGD:621392 D RGD:9068941 20200609 RGD PMID:18790236|REF_RGD_ID:2314612 9019253 Ccn2 cellular communication network factor 2 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:kidney (rat) PMID:19080126|REF_RGD_ID:2314603 9019253 Ccn2 cellular communication network factor 2 gene DOID:9000972 Fever ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:meninges (rat) PMID:19582783|REF_RGD_ID:2314489 9019253 Ccn2 cellular communication network factor 2 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21258935 9019253 Ccn2 cellular communication network factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:19856102|REF_RGD_ID:2314367 9019253 Ccn2 cellular communication network factor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9019253 Ccn2 cellular communication network factor 2 gene DOID:9002055 Chronic Allograft Nephropathy disease_progression ISO RGD:621392 D RGD:9068941 20211015 RGD mRNA, protein:increased expression:kidney (rat) PMID:19921985|REF_RGD_ID:150517553 9019253 Ccn2 cellular communication network factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:621392 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) PMID:19065061|REF_RGD_ID:2314604 9019253 Ccn2 cellular communication network factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:621392 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney, glomerulus (rat) PMID:19895808|REF_RGD_ID:2314366 9019253 Ccn2 cellular communication network factor 2 gene DOID:9003291 Aggressive Fibromatosis ISO RGD:731013 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor (human) PMID:19366727|REF_RGD_ID:2314525 9019253 Ccn2 cellular communication network factor 2 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:621392 D RGD:9068941 20200609 RGD PMID:19707545|REF_RGD_ID:2314476 9019253 Ccn2 cellular communication network factor 2 gene DOID:9005172 Lung Neoplasms ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552421 9019253 Ccn2 cellular communication network factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart, myocardium (rat) PMID:19820199|REF_RGD_ID:2314021 9019253 Ccn2 cellular communication network factor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621392 D RGD:9068941 20230302 RGD mRNA:increased expression:heart left ventricle (rat) PMID:19625611|REF_RGD_ID:2314487 9019253 Ccn2 cellular communication network factor 2 gene DOID:9005749 Necrosis ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:brain (rat) PMID:19395590|REF_RGD_ID:2314511 9019253 Ccn2 cellular communication network factor 2 gene DOID:9006182 Carotid Artery Injuries ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:arterial wall (rat) PMID:19570811|REF_RGD_ID:2314490 9019253 Ccn2 cellular communication network factor 2 gene DOID:9006709 Primary Graft Dysfunction exacerbates ISO RGD:621392 D RGD:9068941 20211126 RGD protein:increased expression:urine (rat) PMID:19921985|REF_RGD_ID:150517553 9019253 Ccn2 cellular communication network factor 2 gene DOID:9006958 Generalized Arterial Calcification of Infancy, 1 ISO RGD:731013 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 9019253 Ccn2 cellular communication network factor 2 gene DOID:9007456 Female Infertility ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21868453 9019253 Ccn2 cellular communication network factor 2 gene DOID:9007661 Dwarfism ISO RGD:731014 D RGD:9068941 20200609 RGD PMID:11237711|REF_RGD_ID:734846 9019253 Ccn2 cellular communication network factor 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:731013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17657819 9019253 Ccn2 cellular communication network factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:left ventricle (rat) PMID:19902320|REF_RGD_ID:2314357 9019253 Ccn2 cellular communication network factor 2 gene DOID:9477 pulmonary embolism ISO RGD:621392 D RGD:9068941 20200609 RGD mRNA:increased expression:right ventricle (rat) PMID:19602618|REF_RGD_ID:2314488 9019253 Ccn2 cellular communication network factor 2 gene DOID:971 tendinitis ISO RGD:621392 D RGD:9068941 20200609 RGD protein:increased expression:flexor digitorum profundus, flexor digitorum superficialis, fibroblast (rat) PMID:19743505|REF_RGD_ID:2314473 9019281 Elmod3 ELMO domain containing 3 gene DOID:0110533 autosomal recessive nonsyndromic deafness 88 ISO RGD:1353080 D RGD:7240710 20180130 OMIM 9019281 Elmod3 ELMO domain containing 3 gene DOID:0110533 autosomal recessive nonsyndromic deafness 88 ISO RGD:1353080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 88 PMID:24039609|PMID:25741868|PMID:28492532 9019281 Elmod3 ELMO domain containing 3 gene DOID:630 genetic disease ISO RGD:1353080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9019281 Elmod3 ELMO domain containing 3 gene DOID:9002982 Autosomal Dominant Nonsyndromic Deafness 81 ISO RGD:1353080 D RGD:7240710 20210908 OMIM 9019281 Elmod3 ELMO domain containing 3 gene DOID:9002982 Autosomal Dominant Nonsyndromic Deafness 81 ISO RGD:1353080 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 81 PMID:25741868|PMID:28492532|PMID:29713870 9019323 Ccdc191 coiled-coil domain containing 191 gene DOID:630 genetic disease ISO RGD:1350923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019344 Higd2a HIG1 hypoxia inducible domain family member 2A gene DOID:0060071 pre-malignant neoplasm ISO RGD:1603886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 9019344 Higd2a HIG1 hypoxia inducible domain family member 2A gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1603886 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9019344 Higd2a HIG1 hypoxia inducible domain family member 2A gene DOID:14748 Sotos syndrome ISO RGD:1603886 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9019344 Higd2a HIG1 hypoxia inducible domain family member 2A gene DOID:630 genetic disease ISO RGD:1603886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019344 Higd2a HIG1 hypoxia inducible domain family member 2A gene DOID:9007188 Liver Neoplasms ISO RGD:1603886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20372150 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence severity ISO RGD:734445 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP::rs16969968 (human) PMID:29993116|REF_RGD_ID:150526806 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence severity ISO RGD:734445 D RGD:9068941 20231130 RGD DNA:SNP, missense:CDS:rs16969968 (human) PMID:27663783|REF_RGD_ID:401901143 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs16969968(human) PMID:19706762|REF_RGD_ID:150524362 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0050742 nicotine dependence susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP:intron:rs17486278(human) PMID:20587604|REF_RGD_ID:150527839 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0060001 withdrawal disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18184829 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:0081013 severe COVID-19 ISO RGD:734445 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) due to high levels of fibrinogen and C-reactive protein PMID:18385738|PMID:18385739|PMID:18618000|PMID:19132693|PMID:19443489|PMID:19706762|PMID:20485328|PMID:20643934|PMID:20840187|PMID:20886544|PMID:21418140|PMID:22046326|PMID:22648373|PMID:22992668|PMID:24733007|PMID:27355804|PMID:29196725|PMID:29621993|PMID:29666375|PMID:30453884|PMID:31402126|PMID:31796940 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer ISO RGD:734445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung cancer susceptibility 2 PMID:18385738|PMID:18385739|PMID:18618000|PMID:19132693|PMID:19443489|PMID:19706762|PMID:20485328|PMID:20643934|PMID:20840187|PMID:20886544|PMID:21418140|PMID:22046326|PMID:22648373|PMID:22992668|PMID:24733007|PMID:27355804|PMID:29196725|PMID:29621993|PMID:29666375|PMID:30453884|PMID:31402126|PMID:31796940 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1324 lung cancer susceptibility ISO RGD:734445 D RGD:7240710 20230505 OMIM 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1574 alcohol use disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414406 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:1749 squamous cell carcinoma ISO RGD:734445 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:2030 anxiety disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19220484|PMID:29944862 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:2717 Bloom syndrome ISO RGD:734445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:303 substance-related disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20438829 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD associated with lung cancer; DNA:SNP::rs16969968 (human) PMID:33419953|REF_RGD_ID:150524357 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNP::rs16969968 (human) PMID:29993116|REF_RGD_ID:150526806 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:734445 D RGD:9068941 20220224 RGD mRNA:increased expression:esophagus (human) PMID:27610024|REF_RGD_ID:151361143 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs667282(human) PMID:23844051|REF_RGD_ID:150524358 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3907 lung squamous cell carcinoma ISO RGD:734445 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs503464(human) PMID:23314339|REF_RGD_ID:150527849 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs667282(human) PMID:27050379|REF_RGD_ID:150527847 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma ISO RGD:734445 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP:cds: p.D398N(human) PMID:19577767|REF_RGD_ID:150524359 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs503464(human) PMID:23314339|REF_RGD_ID:150527849 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:3910 lung adenocarcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD associated with smoking; DNA:SNPs: :rs2036527, rs684513, rs667282(human) PMID:20554942|REF_RGD_ID:150527848 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:4556 lung large cell carcinoma ISO RGD:734445 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:5409 lung small cell carcinoma ISO RGD:734445 D RGD:9068941 20211203 RGD mRNA:increased expression:lung PMID:20124469|REF_RGD_ID:150527851 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:630 genetic disease ISO RGD:734445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:809 cocaine abuse onset ISO RGD:734445 D RGD:9068941 20211210 RGD DNA:SNP:exon:rs16969968(human) PMID:32841724|REF_RGD_ID:150530292 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2347 D RGD:9068941 20211210 RGD protein:increased expression:spinal nerve PMID:15652389|REF_RGD_ID:150530460 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9001310 Tobacco Use Disorder ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18414406|PMID:18519132|PMID:28472521 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9002211 Hyperalgesia ameliorates ISO RGD:2347 D RGD:9068941 20211210 RGD PMID:15652389|REF_RGD_ID:150530460 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9005172 Lung Neoplasms ISO RGD:734445 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18385738 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9256 colorectal cancer ISO RGD:734445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9019357 Chrna5 cholinergic receptor nicotinic alpha 5 subunit gene DOID:9261 nasopharynx carcinoma susceptibility ISO RGD:734445 D RGD:9068941 20211203 RGD DNA:SNP: :rs3841324(human) PMID:25329654|REF_RGD_ID:150527838 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:734063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:0090036 myoclonic dystonia 26 ISO RGD:734063 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:0090111 PCWH syndrome ISO RGD:734063 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: PCWH syndrome PMID:10482261|PMID:10762540|PMID:11026454|PMID:12447940|PMID:15004559|PMID:1636383|PMID:17855451|PMID:17999358|PMID:19764030|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25077900|PMID:25741868|PMID:25991456|PMID:26467025|PMID:27240497|PMID:27562378|PMID:28492532|PMID:29419413|PMID:30311386|PMID:32908489|PMID:35802133|PMID:36633841|PMID:9462749 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:734063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:0110948 Waardenburg syndrome type 1 ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:21898658|PMID:28390600 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:0110950 Waardenburg syndrome type 2A ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2A PMID:25741868|PMID:29407415|PMID:30311386|PMID:34599368 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:0110953 Waardenburg syndrome type 4A ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4A PMID:25741868 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:0110955 Waardenburg syndrome type 4C ISO RGD:734063 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 4C PMID:10077527|PMID:15004559|PMID:18348274|PMID:21898658|PMID:21965087|PMID:24033266|PMID:25741868|PMID:25991456|PMID:27666373|PMID:28492532|PMID:29407415|PMID:30311386|PMID:33442024|PMID:33724713|PMID:34474183|PMID:34599368|PMID:36413997|PMID:9462749 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:0110956 Waardenburg syndrome type 2E ISO RGD:734063 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 2E | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, with neurologic involvement | ClinVar Annotator: match by term: Waardenburg syndrome type 2E, without neurologic involvement PMID:10077527|PMID:10441344|PMID:15004559|PMID:17999358|PMID:18348267|PMID:18627047|PMID:19208381|PMID:20478267|PMID:21898658|PMID:21965087|PMID:23237859|PMID:23643381|PMID:24033266|PMID:25077900|PMID:25741868|PMID:26467025|PMID:27240497|PMID:27562378|PMID:28000701|PMID:28492532|PMID:31152317|PMID:31427586|PMID:32853555|PMID:32908489|PMID:33442024|PMID:33597575|PMID:33865100|PMID:34142234|PMID:35802133|PMID:36633841|PMID:8911608 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:10487 Hirschsprung's disease ISO RGD:734063 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24357527 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:1059 intellectual disability ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11026454|PMID:16504559 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:734063 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:3614 Kallmann syndrome ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:630 genetic disease ISO RGD:734063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:9004042 Olfaction Disorders ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:9004147 Anosmia ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anosmia PMID:25741868 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:9004538 Hearing Loss ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:17999358|PMID:20127975|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:9008681 Deafness ISO RGD:734063 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies PMID:25077900|PMID:25741868|PMID:27562378|PMID:28492532|PMID:29419413|PMID:32908489|PMID:35802133|PMID:36633841 9019370 Polr2f RNA polymerase II, I and III subunit F gene DOID:9258 Waardenburg syndrome ISO RGD:734063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:17999358|PMID:20127975|PMID:22008330|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27240497|PMID:28492532|PMID:30311386|PMID:9462749 9019389 Tmem91 transmembrane protein 91 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9019389 Tmem91 transmembrane protein 91 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9019389 Tmem91 transmembrane protein 91 gene DOID:2340 craniosynostosis ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 9019389 Tmem91 transmembrane protein 91 gene DOID:630 genetic disease ISO RGD:1602234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019389 Tmem91 transmembrane protein 91 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9019389 Tmem91 transmembrane protein 91 gene DOID:9269 maple syrup urine disease ISO RGD:1602234 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9019408 Sox13 SRY-box transcription factor 13 gene DOID:0080600 COVID-19 ISO RGD:1320144 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9019408 Sox13 SRY-box transcription factor 13 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1320144 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9019408 Sox13 SRY-box transcription factor 13 gene DOID:12849 autistic disorder ISO RGD:1320144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9019408 Sox13 SRY-box transcription factor 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1320144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9019408 Sox13 SRY-box transcription factor 13 gene DOID:630 genetic disease ISO RGD:1320144 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019408 Sox13 SRY-box transcription factor 13 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1320144 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9019408 Sox13 SRY-box transcription factor 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320144 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9019438 Pla2g2d phospholipase A2 group IID gene DOID:0060369 Parkinson's disease 6 ISO RGD:1320432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 9019438 Pla2g2d phospholipase A2 group IID gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320432 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9019438 Pla2g2d phospholipase A2 group IID gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1320432 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 9019438 Pla2g2d phospholipase A2 group IID gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1320432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 9019438 Pla2g2d phospholipase A2 group IID gene DOID:630 genetic disease ISO RGD:1320432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019438 Pla2g2d phospholipase A2 group IID gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9019446 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 9019446 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1604288 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:25741868|PMID:27259049|PMID:28492532|PMID:30982706|PMID:31392824 9019446 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9019446 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9019446 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1604288 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9019446 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9019446 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9019446 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:630 genetic disease ISO RGD:1604288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9019446 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:9002543 Myopathy with Abnormal Lipid Metabolism ISO RGD:1604288 D RGD:7240710 20190315 OMIM 9019446 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:9002543 Myopathy with Abnormal Lipid Metabolism ISO RGD:1604288 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: FLAD1-related condition | ClinVar Annotator: match by term: Myopathy with abnormal lipid metabolism PMID:25741868|PMID:27259049|PMID:28492532|PMID:31392824 9019446 Flad1 flavin adenine dinucleotide synthetase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9019469 Ubqln4 ubiquilin 4 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 9019469 Ubqln4 ubiquilin 4 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 9019469 Ubqln4 ubiquilin 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9019469 Ubqln4 ubiquilin 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9019469 Ubqln4 ubiquilin 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9019469 Ubqln4 ubiquilin 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9019469 Ubqln4 ubiquilin 4 gene DOID:5812 MHC class II deficiency ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9019469 Ubqln4 ubiquilin 4 gene DOID:630 genetic disease ISO RGD:1344813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019469 Ubqln4 ubiquilin 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344813 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9019484 Sqor sulfide quinone oxidoreductase gene DOID:0080600 COVID-19 ISO RGD:1353757 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9019484 Sqor sulfide quinone oxidoreductase gene DOID:2717 Bloom syndrome ISO RGD:1353757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9019484 Sqor sulfide quinone oxidoreductase gene DOID:630 genetic disease ISO RGD:1353757 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019484 Sqor sulfide quinone oxidoreductase gene DOID:9008341 SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY ISO RGD:1353757 D RGD:7240710 20210421 OMIM 9019484 Sqor sulfide quinone oxidoreductase gene DOID:9008341 SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY ISO RGD:1353757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY PMID:32160317 9019484 Sqor sulfide quinone oxidoreductase gene DOID:9256 colorectal cancer ISO RGD:1353757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9019509 Jph1 junctophilin 1 gene DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ISO RGD:1318763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:28492532 9019509 Jph1 junctophilin 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1318763 D RGD:7240710 20180130 OMIM 9019509 Jph1 junctophilin 1 gene DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K ISO RGD:1318763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2K PMID:15805163|PMID:20685671|PMID:21681106|PMID:25168384 9019509 Jph1 junctophilin 1 gene DOID:0110185 Charcot-Marie-Tooth disease type 4A ISO RGD:1318763 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A PMID:28492532 9019509 Jph1 junctophilin 1 gene DOID:630 genetic disease ISO RGD:1318763 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019517 Rasip1 Ras interacting protein 1 gene DOID:630 genetic disease ISO RGD:1313233 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019535 Ntn5 netrin 5 gene DOID:630 genetic disease ISO RGD:1606977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019548 Grid1 glutamate ionotropic receptor delta type subunit 1 gene DOID:10283 prostate cancer ISO RGD:68523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 9019548 Grid1 glutamate ionotropic receptor delta type subunit 1 gene DOID:630 genetic disease ISO RGD:68523 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9019548 Grid1 glutamate ionotropic receptor delta type subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68523 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: GRID1-associated neurodevelopmental disorder PMID:25741868 9019548 Grid1 glutamate ionotropic receptor delta type subunit 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:68523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 9019568 CUNH6orf132 chromosome unknown C6orf132 homolog gene DOID:0050444 infantile Refsum disease ISO RGD:1354360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9019568 CUNH6orf132 chromosome unknown C6orf132 homolog gene DOID:630 genetic disease ISO RGD:1354360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019568 CUNH6orf132 chromosome unknown C6orf132 homolog gene DOID:905 Zellweger syndrome ISO RGD:1354360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9019577 Galnt9 polypeptide N-acetylgalactosaminyltransferase 9 gene DOID:630 genetic disease ISO RGD:69656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:0050746 mantle cell lymphoma ISO RGD:1349908 D RGD:9068941 20200609 RGD protein:increased expression:mononuclear cell (human) PMID:16620968|REF_RGD_ID:11535021 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:0050902 medulloblastoma ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:0050908 myelodysplastic syndrome ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, blood (human) PMID:24763007|REF_RGD_ID:11535028 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:0060318 acute promyelocytic leukemia severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:18815192|REF_RGD_ID:11535037 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1349908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:1115 sarcoma ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:11198 DiGeorge syndrome ISO RGD:1349908 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:1240 leukemia ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:1612 breast cancer ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:17624586|REF_RGD_ID:11535056 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:1909 melanoma ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:1909 melanoma ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:skin of body (human) PMID:27505074|PMID:9047241|REF_RGD_ID:11535038|REF_RGD_ID:11535062 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:3347 osteosarcoma severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:muscle tissue (human) PMID:22390931|REF_RGD_ID:11535057 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:3713 ovary adenocarcinoma severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:female gonad (human) PMID:18709641|REF_RGD_ID:11535054 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:3908 lung non-small cell carcinoma ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:3910 lung adenocarcinoma ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:27241212|REF_RGD_ID:11535020 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:4450 renal cell carcinoma ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:6039 uveal melanoma severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:uvea (human) PMID:27486988|REF_RGD_ID:11535039 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:630 genetic disease ISO RGD:1349908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:769 neuroblastoma severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:neural tissue (human) PMID:15240516|REF_RGD_ID:11535044 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:8552 chronic myeloid leukemia ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:8552 chronic myeloid leukemia ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell (human) PMID:20838376|REF_RGD_ID:11535035 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:8567 Hodgkin's lymphoma severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:lymphoid tissue (human) PMID:26044287|REF_RGD_ID:11060455 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:8692 myeloid leukemia severity ISO RGD:1349908 D RGD:9068941 20200609 RGD human cell line in a mouse model PMID:16103086|REF_RGD_ID:11535036 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:8761 acute megakaryocytic leukemia ISO RGD:1349908 D RGD:9068941 20200609 RGD associated with Down Syndrome;mRNA:increased expression:mononuclear cell (human) PMID:15180862|REF_RGD_ID:11535064 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1349908 D RGD:9068941 20200609 RGD protein:increased expression:mononuclear cell (human) PMID:16620968|REF_RGD_ID:11535021 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:9119 acute myeloid leukemia ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cell (human) PMID:20376794|REF_RGD_ID:11535023 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:9538 multiple myeloma ISO RGD:1349908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179254 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:9538 multiple myeloma severity ISO RGD:1349908 D RGD:9068941 20200609 RGD associated with bortezomib treatment;mRNA:increased expression:bone marrow (human) PMID:24791872|REF_RGD_ID:11535030 9019592 Prame PRAME nuclear receptor transcriptional regulator gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1349908 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:27275197|REF_RGD_ID:11535025 9019601 Hs6st3 heparan sulfate 6-O-sulfotransferase 3 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1314189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 9019601 Hs6st3 heparan sulfate 6-O-sulfotransferase 3 gene DOID:630 genetic disease ISO RGD:1314189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019601 Hs6st3 heparan sulfate 6-O-sulfotransferase 3 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1314189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9019607 Tmem176a transmembrane protein 176A gene DOID:2843 long QT syndrome ISO RGD:1602320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16470702|PMID:18348270|PMID:19443486|PMID:25606385|PMID:28492532 9019607 Tmem176a transmembrane protein 176A gene DOID:630 genetic disease ISO RGD:1602320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019618 Fgf5 fibroblast growth factor 5 gene DOID:0060224 atrial fibrillation ISO RGD:1350517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 9019618 Fgf5 fibroblast growth factor 5 gene DOID:0111566 familial isolated trichomegaly ISO RGD:1350517 D RGD:7240710 20180130 OMIM 9019618 Fgf5 fibroblast growth factor 5 gene DOID:0111566 familial isolated trichomegaly ISO RGD:1350517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichomegaly PMID:24989505 9019618 Fgf5 fibroblast growth factor 5 gene DOID:630 genetic disease ISO RGD:1350517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019631 Arhgap8 Rho GTPase activating protein 8 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9019631 Arhgap8 Rho GTPase activating protein 8 gene DOID:1059 intellectual disability ISO RGD:1606315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9019631 Arhgap8 Rho GTPase activating protein 8 gene DOID:630 genetic disease ISO RGD:1606315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019659 Fam20a FAM20A golgi associated secretory pathway pseudokinase gene DOID:0050471 Carney complex ISO RGD:1314939 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 PMID:11115848|PMID:19293268|PMID:24170103|PMID:28492532 9019659 Fam20a FAM20A golgi associated secretory pathway pseudokinase gene DOID:0110066 amelogenesis imperfecta type 1G ISO RGD:1314939 D RGD:7240710 20180130 OMIM 9019659 Fam20a FAM20A golgi associated secretory pathway pseudokinase gene DOID:0110066 amelogenesis imperfecta type 1G ISO RGD:1314939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G PMID:18597613|PMID:21549343|PMID:21990045|PMID:23434854|PMID:23468644|PMID:24196488|PMID:25741868|PMID:28086997|PMID:28492532|PMID:32246227 9019659 Fam20a FAM20A golgi associated secretory pathway pseudokinase gene DOID:14669 acrodysostosis ISO RGD:1314939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrodysostosis PMID:28492532 9019659 Fam20a FAM20A golgi associated secretory pathway pseudokinase gene DOID:630 genetic disease ISO RGD:1314939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9019659 Fam20a FAM20A golgi associated secretory pathway pseudokinase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1314939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9019659 Fam20a FAM20A golgi associated secretory pathway pseudokinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314939 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 9019696 Aar2 AAR2 splicing factor gene DOID:630 genetic disease ISO RGD:1322325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019696 Aar2 AAR2 splicing factor gene DOID:9008086 Developmental Disabilities ISO RGD:1322325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9019716 Slc35f2 solute carrier family 35 member F2 gene DOID:1059 intellectual disability ISO RGD:1344599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9019716 Slc35f2 solute carrier family 35 member F2 gene DOID:12704 ataxia telangiectasia ISO RGD:1344599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 9019716 Slc35f2 solute carrier family 35 member F2 gene DOID:630 genetic disease ISO RGD:1344599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019716 Slc35f2 solute carrier family 35 member F2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1344599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9019729 Pdcd11 programmed cell death 11 gene DOID:630 genetic disease ISO RGD:1354347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019778 Tmem161b transmembrane protein 161B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1603558 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9019778 Tmem161b transmembrane protein 161B gene DOID:630 genetic disease ISO RGD:1603558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019778 Tmem161b transmembrane protein 161B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9019778 Tmem161b transmembrane protein 161B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1603558 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9019794 Gpld1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:1606585 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:14635103|PMID:17438226|PMID:23430864|PMID:25246302|PMID:25741868|PMID:27104484|PMID:28492532|PMID:30091983|PMID:31267348|PMID:32402538|PMID:33203024|PMID:34882073 9019794 Gpld1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:1059 intellectual disability ISO RGD:1606585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9019794 Gpld1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:1826 epilepsy ISO RGD:1606585 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 9019794 Gpld1 glycosylphosphatidylinositol specific phospholipase D1 gene DOID:630 genetic disease ISO RGD:1606585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30091983 9019824 Wnt16 Wnt family member 16 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9019824 Wnt16 Wnt family member 16 gene DOID:630 genetic disease ISO RGD:1345805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019833 Intu inturned planar cell polarity protein gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1319793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:25741868|PMID:27158779|PMID:29068549 9019833 Intu inturned planar cell polarity protein gene DOID:0080289 orofaciodigital syndrome XVII ISO RGD:1319793 D RGD:7240710 20190315 OMIM 9019833 Intu inturned planar cell polarity protein gene DOID:0080289 orofaciodigital syndrome XVII ISO RGD:1319793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME XVII PMID:25741868|PMID:27158779|PMID:28492532 9019833 Intu inturned planar cell polarity protein gene DOID:0110722 neuronal ceroid lipofuscinosis 7 ISO RGD:1319793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19177532|PMID:28492532 9019833 Intu inturned planar cell polarity protein gene DOID:12712 nephronophthisis ISO RGD:1319793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:27158779|PMID:28492532 9019833 Intu inturned planar cell polarity protein gene DOID:630 genetic disease ISO RGD:1319793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9019833 Intu inturned planar cell polarity protein gene DOID:9003056 Short-Rib Thoracic Dysplasia 20 with Polydactyly ISO RGD:1319793 D RGD:7240710 20190315 OMIM 9019833 Intu inturned planar cell polarity protein gene DOID:9003056 Short-Rib Thoracic Dysplasia 20 with Polydactyly ISO RGD:1319793 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 20 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic PMID:25741868|PMID:27158779|PMID:28492532 9019833 Intu inturned planar cell polarity protein gene DOID:9003244 Mohr Syndrome ISO RGD:1319793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome II PMID:27158779 9019856 Tmem82 transmembrane protein 82 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1603825 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9019856 Tmem82 transmembrane protein 82 gene DOID:630 genetic disease ISO RGD:1603825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019886 Rnf148 ring finger protein 148 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9019886 Rnf148 ring finger protein 148 gene DOID:630 genetic disease ISO RGD:1348165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0050741 alcohol dependence ISO RGD:620218 D RGD:9068941 20240127 RGD mRNA,protein:decreased expression:hippocampus PMID:37031608|REF_RGD_ID:401959603 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0050741 alcohol dependence ISO RGD:730886 D RGD:9068941 20231214 RGD DNA:SNP:exon:rs35349697 PMID:24704376|REF_RGD_ID:401938627 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0050741 alcohol dependence ISO RGD:730887 D RGD:9068941 20240201 RGD PMID:21951632|REF_RGD_ID:401959743 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0050741 alcohol dependence treatment ISO RGD:620218 D RGD:9068941 20240127 RGD PMID:32579730|PMID:34453945|REF_RGD_ID:401959604|REF_RGD_ID:401959610 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0050742 nicotine dependence ISO RGD:730886 D RGD:9068941 20240201 RGD mRNA:increased expression:blood, leukocytes PMID:20047710|REF_RGD_ID:401960087 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0050742 nicotine dependence treatment ISO RGD:730887 D RGD:9068941 20231230 RGD PMID:19212318|REF_RGD_ID:401940142 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder ISO RGD:620218 D RGD:9068941 20231216 RGD associated with alcohol use disorder;mRNA:increased expression:cerebellum PMID:34453331|REF_RGD_ID:401938639 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder ISO RGD:620218 D RGD:9068941 20231216 RGD associated with morphine dependence;protein:increased phosphorylation:prefrontal cortex PMID:23035088|REF_RGD_ID:401938640 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder ISO RGD:620218 D RGD:9068941 20240111 RGD associated with morphine dependence;protein:increased promoter binding:frontal cortex, midbrain PMID:25392083|REF_RGD_ID:401950484 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder ISO RGD:620218 D RGD:9068941 20240118 RGD associated with nicotine dependence;protein:decreased expression, decreased phosphorylation:brain, multiple PMID:11331423|REF_RGD_ID:401959212 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder ISO RGD:620218 D RGD:9068941 20240125 RGD associated with alcohol use disorder;protein:altered phosphorylation:brain, nucleus PMID:11181917|REF_RGD_ID:401959326 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder ISO RGD:620218 D RGD:9068941 20240125 RGD associated with morphine dependence PMID:16641242|PMID:19108758|REF_RGD_ID:401959318|REF_RGD_ID:401959375 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder ISO RGD:620218 D RGD:9068941 20240201 RGD associated with heroin dependence;protein:decreased phosphorylation:nucleus accumbens PMID:25711798|REF_RGD_ID:401959753 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18596687 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder sexual_dimorphism ISO RGD:620218 D RGD:9068941 20231216 RGD associated with morphine dependence;protein:altered phosphorylation:ventral tegmental area PMID:31042569|REF_RGD_ID:401938641 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder treatment ISO RGD:730887 D RGD:9068941 20231230 RGD associated with nicotine dependence PMID:24682499|REF_RGD_ID:401940143 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder treatment ISO RGD:730887 D RGD:9068941 20240111 RGD associated with alcohol dependence PMID:29713956|REF_RGD_ID:401950486 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060001 withdrawal disorder treatment ISO RGD:730887 D RGD:9068941 20240111 RGD associated with morphine dependence PMID:18772347|REF_RGD_ID:401950487 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0060041 autism spectrum disorder treatment ISO RGD:620218 D RGD:9068941 20240118 RGD PMID:29218394|REF_RGD_ID:401959314 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:0080546 non-alcoholic fatty liver treatment ISO RGD:730887 D RGD:9068941 20231230 RGD PMID:28770225|REF_RGD_ID:401940144 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:10763 hypertension treatment ISO RGD:620218 D RGD:9068941 20240201 RGD PMID:21697807|REF_RGD_ID:10059385 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:10914 amnestic disorder ISO RGD:620218 D RGD:9068941 20240201 RGD protein:decreased phosphorylation:amygdala, hippocampus, prefrontal cortex PMID:31400468|REF_RGD_ID:401960871 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:10914 amnestic disorder treatment ISO RGD:730887 D RGD:9068941 20240201 RGD PMID:28716085|REF_RGD_ID:401960865 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:10933 obsessive-compulsive disorder ISO RGD:620218 D RGD:9068941 20240127 RGD associated with morphine withdrawal disorder;protein:increased phosphorylation:nucleus accumbens PMID:31693870|REF_RGD_ID:401959588 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:11206 opioid abuse ISO RGD:620218 D RGD:9068941 20231130 RGD protein:increased phosphorylation:Prefrontal Cortex, nucleus accumbens (rat) PMID:30632799|REF_RGD_ID:401901180 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:11206 opioid abuse treatment ISO RGD:730887 D RGD:9068941 20240104 RGD PMID:31081159|REF_RGD_ID:401940188 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:11446 sciatic neuropathy ISO RGD:620218 D RGD:9068941 20200609 RGD protein:increased phosphorylation:nucleus PMID:19918364|REF_RGD_ID:10059430 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:620218 D RGD:9068941 20240201 RGD PMID:33596416|REF_RGD_ID:401960870 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:11870 Pick's disease ISO RGD:730886 D RGD:9068941 20200609 RGD PMID:16496165|REF_RGD_ID:10047401 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:11870 Pick's disease ISO RGD:730886 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex PMID:17548164|REF_RGD_ID:10047402 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:12858 Huntington's disease ISO RGD:620218 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:neuron: PMID:16420411|REF_RGD_ID:10059577 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:12858 Huntington's disease ISO RGD:730887 D RGD:9068941 20200609 RGD PMID:11967539|REF_RGD_ID:734817 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:730887 D RGD:9068941 20200609 RGD PMID:9616213|REF_RGD_ID:734815 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:14330 Parkinson's disease ISO RGD:730886 D RGD:9068941 20240201 RGD protein:decreased phosphorylation:striatum PMID:25583483|REF_RGD_ID:401960857 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:730886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:1574 alcohol use disorder ISO RGD:620218 D RGD:9068941 20231214 RGD mRNA, protein:decreased expression:amygdala PMID:29991681|REF_RGD_ID:401938626 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:1574 alcohol use disorder ISO RGD:620218 D RGD:9068941 20240120 RGD protein:altered expression, altered phosphorylation:liver, nucleus PMID:22269225|REF_RGD_ID:401959317 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:1574 alcohol use disorder sexual_dimorphism ISO RGD:620218 D RGD:9068941 20240125 RGD protein:increased phosphorylation:liver PMID:31262967|REF_RGD_ID:401959334 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:1596 depressive disorder ISO RGD:620218 D RGD:9068941 20240127 RGD protein:increased expression:nucleus accumbens PMID:26762379|REF_RGD_ID:401959608 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:1596 depressive disorder treatment ISO RGD:620218 D RGD:9068941 20240201 RGD PMID:31257291|REF_RGD_ID:401960862 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:2030 anxiety disorder treatment ISO RGD:620218 D RGD:9068941 20240201 RGD associated with alcohol use disorder PMID:18322102|REF_RGD_ID:401938616 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:2030 anxiety disorder treatment ISO RGD:730887 D RGD:9068941 20240118 RGD PMID:32014377|REF_RGD_ID:401827932 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:224 transient cerebral ischemia ISO RGD:620218 D RGD:9068941 20200609 RGD PMID:10077326|REF_RGD_ID:10047405 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:2316 brain ischemia treatment ISO RGD:620218 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression,decreased phosphorylation:brain: PMID:23644141|REF_RGD_ID:10059580 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:2560 morphine dependence ISO RGD:620218 D RGD:9068941 20240125 RGD protein:increased expression:neuron, brain PMID:19108758|REF_RGD_ID:401959375 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:2560 morphine dependence ISO RGD:620218 D RGD:9068941 20240125 RGD protein:increased phosphorylation:central amygdaloid nucleus PMID:19052216|REF_RGD_ID:401959374 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:2560 morphine dependence ISO RGD:620218 D RGD:9068941 20240127 RGD PMID:29024786|REF_RGD_ID:401959607 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:2560 morphine dependence ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11717377 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:2560 morphine dependence ISO RGD:730887 D RGD:9068941 20231228 RGD mRNA, protein:increased expression:hippocampus, prefrontal cortex PMID:19341783|REF_RGD_ID:401940119 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:2560 morphine dependence ISO RGD:730887 D RGD:9068941 20231228 RGD protein:increased phosphorylation:hypothalamus, ventral tegmental area PMID:24073333|REF_RGD_ID:401940122 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:2560 morphine dependence treatment ISO RGD:620218 D RGD:9068941 20240201 RGD PMID:27053349|REF_RGD_ID:401959748 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:2560 morphine dependence treatment ISO RGD:730887 D RGD:9068941 20240111 RGD PMID:18772347|PMID:26313266|PMID:27461790|PMID:32113678|PMID:33609567|REF_RGD_ID:401940121|REF_RGD_ID:401940145|REF_RGD_ID:401940182|REF_RGD_ID:401940184|REF_RGD_ID:401950487 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:620218 D RGD:9068941 20240201 RGD PMID:35218623|REF_RGD_ID:401960864 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:4621 holoprosencephaly ISO RGD:730887 D RGD:9068941 20200609 RGD protein:increased localization: prechordal mesoderm, nucleus PMID:18338389|REF_RGD_ID:12801437 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:5419 schizophrenia ISO RGD:730886 D RGD:9068941 20200609 RGD protein:increased expression:cerebellar vermis PMID:10891039|REF_RGD_ID:10047412 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:5844 myocardial infarction ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19027736 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:6000 congestive heart failure treatment ISO RGD:620218 D RGD:9068941 20240201 RGD PMID:34373768|REF_RGD_ID:401960872 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:630 genetic disease ISO RGD:730886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:670 amphetamine abuse ISO RGD:730887 D RGD:9068941 20231118 RGD protein:increases activity:ventral tegmental area, nucleus accumbens (mouse) PMID:28782589|REF_RGD_ID:401900303 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:670 amphetamine abuse treatment ISO RGD:620218 D RGD:9068941 20231216 RGD protein:increased expression, increased phosphorylation:nucleus accumbens, ventral tegmental area PMID:31900897|REF_RGD_ID:401938636 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:809 cocaine abuse ISO RGD:620218 D RGD:9068941 20240125 RGD protein:increased expression, increased phosphorylation:prefrontal cortex PMID:18001273|REF_RGD_ID:401959587 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:809 cocaine abuse ISO RGD:730887 D RGD:9068941 20240104 RGD PMID:24205196|REF_RGD_ID:401940185 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:8725 vascular dementia treatment ISO RGD:620218 D RGD:9068941 20240201 RGD PMID:27923588|REF_RGD_ID:401960869 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9000669 Ventricular Dysfunction, Right treatment ISO RGD:620218 D RGD:9068941 20220916 RGD PMID:22523357|REF_RGD_ID:155226858 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29179997 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:620218 D RGD:9068941 20240201 RGD associated with morphine withdrawal disorder PMID:33915201|REF_RGD_ID:401959752 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:620218 D RGD:9068941 20240201 RGD associated with Chemical and Drug Induced Liver Injury PMID:27279449|REF_RGD_ID:401960093 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:620218 D RGD:9068941 20240201 RGD PMID:33760143|REF_RGD_ID:401960860 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9002138 Spinal Cord Reperfusion Injury treatment ISO RGD:620218 D RGD:9068941 20220916 RGD PMID:17368520|PMID:29310813|REF_RGD_ID:155226865|REF_RGD_ID:155226868 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:620218 D RGD:9068941 20200609 RGD PMID:15862029|REF_RGD_ID:10059365 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:730886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9005086 Angiomatoid Fibrous Histiocytoma ISO RGD:730886 D RGD:7240710 20180130 OMIM 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9005111 morphine withdrawal syndrome treatment ISO RGD:620218 D RGD:9068941 20240201 RGD PMID:21171355|REF_RGD_ID:401959750 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:730886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11717377|PMID:16359811|PMID:18596687 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9006358 Postoperative Cognitive Dysfunction ISO RGD:620218 D RGD:9068941 20240127 RGD protein:decreased phosphorylation:hippocampus PMID:36688960|REF_RGD_ID:401959611 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:620218 D RGD:9068941 20240118 RGD PMID:29571823|REF_RGD_ID:401959211 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9006358 Postoperative Cognitive Dysfunction treatment ISO RGD:730887 D RGD:9068941 20240201 RGD PMID:37736695|REF_RGD_ID:401960090 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9008023 Memory Disorders ISO RGD:620218 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:14670355|REF_RGD_ID:10059396 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9008023 Memory Disorders ISO RGD:620218 D RGD:9068941 20240127 RGD associated with alcohol use disorder;mRNA:decreased expression:hippocampus PMID:34427953|REF_RGD_ID:401959600 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9008023 Memory Disorders treatment ISO RGD:620218 D RGD:9068941 20240127 RGD associated with morphine dependence PMID:16598705|REF_RGD_ID:401959605 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9008023 Memory Disorders treatment ISO RGD:620218 D RGD:9068941 20240201 RGD PMID:29704550|REF_RGD_ID:401960858 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9008023 Memory Disorders treatment ISO RGD:620218 D RGD:9068941 20240201 RGD associated with Subarachnoid Hemorrhage PMID:26822402|REF_RGD_ID:401960859 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9008023 Memory Disorders treatment ISO RGD:730887 D RGD:9068941 20240104 RGD PMID:29157831|REF_RGD_ID:401940181 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9452 steatotic liver disease ISO RGD:730887 D RGD:9068941 20200609 RGD PMID:14614508|REF_RGD_ID:734818 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9973 substance dependence treatment ISO RGD:620218 D RGD:9068941 20240201 RGD ketamine PMID:27713001|REF_RGD_ID:401960089 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9974 drug dependence treatment ISO RGD:620218 D RGD:9068941 20231216 RGD ketamine PMID:29476799|REF_RGD_ID:401938642 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9975 cocaine dependence ISO RGD:620218 D RGD:9068941 20240125 RGD protein:increased phosphorylation:nucleus accumbens PMID:25522720|REF_RGD_ID:401851063 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9975 cocaine dependence no_association ISO RGD:730886 D RGD:9068941 20231216 RGD DNA:SNPs: :rs10876469, rs2177000 PMID:19001277|REF_RGD_ID:401938643 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9975 cocaine dependence sexual_dimorphism ISO RGD:620218 D RGD:9068941 20240125 RGD protein:increased phosphorylation:nucleus accumbens, prefrontal cortex PMID:23665060|REF_RGD_ID:401851078 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9975 cocaine dependence treatment ISO RGD:620218 D RGD:9068941 20231130 RGD PMID:27664298|REF_RGD_ID:401900166 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9976 heroin dependence ISO RGD:730886 D RGD:9068941 20231214 RGD DNA:SNP:exon:rs35349697 PMID:24704376|REF_RGD_ID:401938627 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9976 heroin dependence treatment ISO RGD:620218 D RGD:9068941 20240201 RGD PMID:21362452|PMID:23062870|REF_RGD_ID:401901181|REF_RGD_ID:401901182 9019894 Creb1 cAMP responsive element binding protein 1 gene DOID:9993 hypoglycemia ISO RGD:730887 D RGD:9068941 20200609 RGD PMID:11557984|REF_RGD_ID:734816 9019917 Kiaa1614 KIAA1614 ortholog gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 9019917 Kiaa1614 KIAA1614 ortholog gene DOID:1540 parathyroid carcinoma ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9019917 Kiaa1614 KIAA1614 ortholog gene DOID:630 genetic disease ISO RGD:1605647 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019917 Kiaa1614 KIAA1614 ortholog gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 9019917 Kiaa1614 KIAA1614 ortholog gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605647 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9019940 Pdgfc platelet derived growth factor C gene DOID:0080600 COVID-19 ISO RGD:68605 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9019940 Pdgfc platelet derived growth factor C gene DOID:630 genetic disease ISO RGD:68605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019940 Pdgfc platelet derived growth factor C gene DOID:9003566 Mesothelioma ISO RGD:68605 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15920167 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:0050962 spinocerebellar ataxia type 12 ISO RGD:1352838 D RGD:7240710 20180130 OMIM 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:0050962 spinocerebellar ataxia type 12 ISO RGD:1352838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PPP2R2B-Related Disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia type 12 PMID:25741868 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1352838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:10652 Alzheimer's disease ISO RGD:1352838 D RGD:9068941 20200609 RGD DNA:repeat PMID:21029765|REF_RGD_ID:5686295 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:1612 breast cancer disease_progression ISO RGD:1352838 D RGD:9068941 20200609 RGD DNA:SNP: :rs319217 (human) PMID:20669227|REF_RGD_ID:5686296 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:630 genetic disease ISO RGD:1352838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1352838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18940801 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1352838 D RGD:9068941 20200609 RGD DNA:repeat, SNPs, haplotype:multiple PMID:20629122|REF_RGD_ID:5686297 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1352838 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:9008086 Developmental Disabilities ISO RGD:1352838 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:9074 systemic lupus erythematosus ISO RGD:1352838 D RGD:9068941 20200609 RGD PMID:21746932|REF_RGD_ID:5686291 9019949 Ppp2r2b protein phosphatase 2 regulatory subunit Bbeta gene DOID:936 brain disease ISO RGD:1352838 D RGD:9068941 20200609 RGD PMID:21471219|REF_RGD_ID:5686294 9019974 Hdgfl1 HDGF like 1 gene DOID:630 genetic disease ISO RGD:1344578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9019987 Socs5 suppressor of cytokine signaling 5 gene DOID:3883 Lynch syndrome ISO RGD:1346055 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 9019987 Socs5 suppressor of cytokine signaling 5 gene DOID:630 genetic disease ISO RGD:1346055 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020004 Hunk hormonally up-regulated Neu-associated kinase gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1344314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 9020004 Hunk hormonally up-regulated Neu-associated kinase gene DOID:0060898 Parkinson's disease 20 ISO RGD:1344314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 9020004 Hunk hormonally up-regulated Neu-associated kinase gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1344314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 9020004 Hunk hormonally up-regulated Neu-associated kinase gene DOID:630 genetic disease ISO RGD:1344314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020022 Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:10763 hypertension ISO RGD:2175 D RGD:9068941 20200609 RGD PMID:11208768|REF_RGD_ID:68726 9020022 Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:630 genetic disease ISO RGD:732893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020022 Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:657 adenoma ISO RGD:732893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23913004 9020022 Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2175 D RGD:9068941 20200609 RGD PMID:20122173|REF_RGD_ID:13782130 9020022 Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 9020022 Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:732893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 9020056 Esyt3 extended synaptotagmin 3 gene DOID:630 genetic disease ISO RGD:1605327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020082 Dntt DNA nucleotidylexotransferase gene DOID:630 genetic disease ISO RGD:1312854 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020082 Dntt DNA nucleotidylexotransferase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1312854 D RGD:9068941 20200609 RGD protein:increased activity:peripheral blood,bone marrow: PMID:7020399|REF_RGD_ID:8694149 9020099 Ccn5 cellular communication network factor 5 gene DOID:2234 focal epilepsy ISO RGD:1351496 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9020099 Ccn5 cellular communication network factor 5 gene DOID:630 genetic disease ISO RGD:1351496 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020099 Ccn5 cellular communication network factor 5 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1351496 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 9020114 Sh2d1a SH2 domain containing 1A gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1346207 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Epstein Barr virus infection familial fatal | ClinVar Annotator: match by term: Lymphoproliferative disorder | ClinVar Annotator: match by term: X-linked lymphoproliferative syndrome PMID:10549287|PMID:10556288|PMID:10598819|PMID:10691868|PMID:10694488|PMID:10898506|PMID:10934222|PMID:11034354|PMID:11049992|PMID:11133747|PMID:11159547|PMID:11414741|PMID:11477068|PMID:11493483|PMID:11520777|PMID:11678908|PMID:12224001|PMID:12356686|PMID:14583885|PMID:15359110|PMID:15632210|PMID:15661030|PMID:15682426|PMID:15711562|PMID:15908972|PMID:15992610|PMID:16199547|PMID:16328363|PMID:16720617|PMID:17576681|PMID:18055393|PMID:19621458|PMID:19937601|PMID:20632414|PMID:20660790|PMID:21119115|PMID:21707584|PMID:21815800|PMID:22433061|PMID:22493517|PMID:22970278|PMID:23143765|PMID:23280491|PMID:23829589|PMID:24616127|PMID:24723092|PMID:24923536|PMID:24985396|PMID:25741868|PMID:26305518|PMID:27209435|PMID:28492532|PMID:28816794|PMID:29604111|PMID:29709555|PMID:30572125|PMID:31415280|PMID:32150605|PMID:32542393|PMID:32888943|PMID:33329693|PMID:3658675|PMID:9536098|PMID:9771704|PMID:9811875 9020114 Sh2d1a SH2 domain containing 1A gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1346207 D RGD:7240710 20200619 OMIM 9020114 Sh2d1a SH2 domain containing 1A gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1346207 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked | ClinVar Annotator: match by term: SH2D1A-related condition PMID:10549287|PMID:10556288|PMID:10598819|PMID:10691868|PMID:10694488|PMID:10898506|PMID:10934222|PMID:11034354|PMID:11049992|PMID:11133747|PMID:11159547|PMID:11414741|PMID:11477068|PMID:11493483|PMID:11520777|PMID:11678908|PMID:12224001|PMID:12356686|PMID:14583885|PMID:15359110|PMID:15632210|PMID:15661030|PMID:15682426|PMID:15711562|PMID:15908972|PMID:15992610|PMID:16199547|PMID:16328363|PMID:16720617|PMID:17576681|PMID:18055393|PMID:19621458|PMID:19937601|PMID:20632414|PMID:20660790|PMID:21119115|PMID:21707584|PMID:21815800|PMID:22493517|PMID:22970278|PMID:23280491|PMID:23829589|PMID:24616127|PMID:24723092|PMID:24923536|PMID:24985396|PMID:25741868|PMID:27209435|PMID:28492532|PMID:28816794|PMID:29604111|PMID:29709555|PMID:30572125|PMID:31415280|PMID:32150605|PMID:32542393|PMID:32888943|PMID:33329693|PMID:3658675|PMID:9536098|PMID:9771704|PMID:9811875 9020114 Sh2d1a SH2 domain containing 1A gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1346207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:17080092|PMID:17989220|PMID:21119115|PMID:25666262|PMID:26581487|PMID:28492532 9020114 Sh2d1a SH2 domain containing 1A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9020114 Sh2d1a SH2 domain containing 1A gene DOID:0111845 Mullegama-Klein-Martinez syndrome ISO RGD:1346207 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES PMID:25741868|PMID:28492532 9020114 Sh2d1a SH2 domain containing 1A gene DOID:12849 autistic disorder ISO RGD:1346207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9020114 Sh2d1a SH2 domain containing 1A gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1346207 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:11049992|PMID:15711562|PMID:22970278|PMID:25741868|PMID:28492532|PMID:31415280|PMID:9771704 9020114 Sh2d1a SH2 domain containing 1A gene DOID:630 genetic disease ISO RGD:1346207 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9020114 Sh2d1a SH2 domain containing 1A gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1346207 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 9020114 Sh2d1a SH2 domain containing 1A gene DOID:9008492 Holoprosencephaly 13 ISO RGD:1346207 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked PMID:25741868|PMID:28492532 9020125 Sbno1 strawberry notch homolog 1 gene DOID:10283 prostate cancer ISO RGD:1320657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9020125 Sbno1 strawberry notch homolog 1 gene DOID:5419 schizophrenia ISO RGD:1320657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 9020125 Sbno1 strawberry notch homolog 1 gene DOID:630 genetic disease ISO RGD:1320657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020125 Sbno1 strawberry notch homolog 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:1320657 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 9020185 Six6 SIX homeobox 6 gene DOID:0060252 sclerocornea ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sclerocornea 9020185 Six6 SIX homeobox 6 gene DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ISO RGD:1321431 D RGD:7240710 20200311 OMIM 9020185 Six6 SIX homeobox 6 gene DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 9020185 Six6 SIX homeobox 6 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia PMID:25741868|PMID:28492532 9020185 Six6 SIX homeobox 6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24875647|PMID:25741868|PMID:28492532 9020185 Six6 SIX homeobox 6 gene DOID:10629 microphthalmia ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmos PMID:25741868|PMID:28492532 9020185 Six6 SIX homeobox 6 gene DOID:11830 myopia ISO RGD:1321431 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 9020185 Six6 SIX homeobox 6 gene DOID:630 genetic disease ISO RGD:1321431 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9020185 Six6 SIX homeobox 6 gene DOID:83 cataract ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract 9020185 Six6 SIX homeobox 6 gene DOID:9007101 Isolated Microphthalmia with Cataract 2 ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus PMID:15266624|PMID:23167593|PMID:24702266|PMID:25741868|PMID:28492532 9020185 Six6 SIX homeobox 6 gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:1321431 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:18666230|PMID:25414181|PMID:28492532 9020185 Six6 SIX homeobox 6 gene DOID:9650 pathologic nystagmus ISO RGD:1321431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus 9020192 Dpf1 double PHD fingers 1 gene DOID:630 genetic disease ISO RGD:1606329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020243 Rspry1 ring finger and SPRY domain containing 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9020243 Rspry1 ring finger and SPRY domain containing 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606482 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9020243 Rspry1 ring finger and SPRY domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9020243 Rspry1 ring finger and SPRY domain containing 1 gene DOID:630 genetic disease ISO RGD:1606482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9020243 Rspry1 ring finger and SPRY domain containing 1 gene DOID:9007161 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type ISO RGD:1606482 D RGD:7240710 20180130 OMIM 9020243 Rspry1 ring finger and SPRY domain containing 1 gene DOID:9007161 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type ISO RGD:1606482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type PMID:25741868|PMID:26365341 9020268 Mxra8 matrix remodeling associated 8 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9020268 Mxra8 matrix remodeling associated 8 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346231 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 9020268 Mxra8 matrix remodeling associated 8 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9020268 Mxra8 matrix remodeling associated 8 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 9020268 Mxra8 matrix remodeling associated 8 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 9020268 Mxra8 matrix remodeling associated 8 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9020268 Mxra8 matrix remodeling associated 8 gene DOID:0111934 immunodeficiency 38 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9020268 Mxra8 matrix remodeling associated 8 gene DOID:0111935 immunodeficiency 16 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9020268 Mxra8 matrix remodeling associated 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9020268 Mxra8 matrix remodeling associated 8 gene DOID:630 genetic disease ISO RGD:1346231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020268 Mxra8 matrix remodeling associated 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9020268 Mxra8 matrix remodeling associated 8 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346231 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9020268 Mxra8 matrix remodeling associated 8 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346231 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9020287 Adgrd2 adhesion G protein-coupled receptor D2 gene DOID:11612 polycystic ovary syndrome ISO RGD:1350453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9020311 Dysf dysferlin gene DOID:0070198 Miyoshi muscular dystrophy ISO RGD:1322255 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive PMID:12796534|PMID:14678801|PMID:15469449|PMID:17512949|PMID:17897828|PMID:18832576|PMID:18853459|PMID:19493611|PMID:20535123|PMID:21522182|PMID:22046204|PMID:22297152|PMID:24033266|PMID:24239059|PMID:24438169|PMID:24838345|PMID:25214167|PMID:25525159|PMID:25741868|PMID:25868377|PMID:25987458|PMID:26077327|PMID:26290895|PMID:26467025|PMID:27365461|PMID:27666772|PMID:28492532|PMID:30107846|PMID:30564623|PMID:32504279|PMID:32528171|PMID:34426522|PMID:34906502 9020311 Dysf dysferlin gene DOID:0070199 Miyoshi muscular dystrophy 1 ISO RGD:1322255 D RGD:7240710 20180912 OMIM 9020311 Dysf dysferlin gene DOID:0070199 Miyoshi muscular dystrophy 1 ISO RGD:1322255 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:10196377|PMID:10766988|PMID:10825360|PMID:11053681|PMID:11198284|PMID:11257469|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12796534|PMID:14673575|PMID:14678801|PMID:15293763|PMID:15469449|PMID:15515206|PMID:15827562|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16705711|PMID:16891820|PMID:16934466|PMID:16996541|PMID:17070050|PMID:17287450|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:17825554|PMID:17828519|PMID:17897828|PMID:17932988|PMID:17994539|PMID:18276788|PMID:18294055|PMID:18306167|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19015158|PMID:19084402|PMID:19154541|PMID:19309282|PMID:19493611|PMID:19528035|PMID:19953532|PMID:20301480|PMID:20497525|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20623375|PMID:20817457|PMID:21173544|PMID:21392994|PMID:21484829|PMID:21520333|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22057634|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22318734|PMID:22616201|PMID:22849992|PMID:22910291|PMID:22995991|PMID:23185377|PMID:23243261|PMID:23254335|PMID:23406536|PMID:23488891|PMID:23519732|PMID:23530687|PMID:23641709|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25133958|PMID:25135358|PMID:25143362|PMID:25312915|PMID:25326637|PMID:25373139|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25591678|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25821721|PMID:25868377|PMID:25898921|PMID:25900324|PMID:25987458|PMID:26000923|PMID:2606004|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26273692|PMID:26290895|PMID:26404900|PMID:26444858|PMID:26467025|PMID:26579332|PMID:26671124|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27104310|PMID:27195159|PMID:27229680|PMID:27290639|PMID:27347015|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27641898|PMID:2764718|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27821570|PMID:27854218|PMID:27858744|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28600779|PMID:28904466|PMID:29138090|PMID:29382405|PMID:29797799|PMID:29970176|PMID:29997562|PMID:30028523|PMID:30107846|PMID:30366248|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31066050|PMID:31268554|PMID:31407473|PMID:31475473|PMID:31589614|PMID:31862442|PMID:31931849|PMID:32140910|PMID:32400077|PMID:32504279|PMID:32528171|PMID:32576226|PMID:32751317|PMID:32906206|PMID:32934002|PMID:33144682|PMID:33215690|PMID:33250842|PMID:33348118|PMID:33610434|PMID:33613410|PMID:33715265|PMID:33927379|PMID:34281941|PMID:34440373|PMID:34559919|PMID:35028538|PMID:35047756|PMID:35135626|PMID:35273475|PMID:36983702|PMID:8808603|PMID:9536098|PMID:9731526 9020311 Dysf dysferlin gene DOID:0081341 congenital myopathy 5 ISO RGD:1322255 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:25741868|PMID:28492532 9020311 Dysf dysferlin gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1322255 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:10766988|PMID:11257469|PMID:12796534|PMID:14678801|PMID:15469449|PMID:15827562|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16996541|PMID:17070050|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:17828519|PMID:18396043|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20535123|PMID:20544924|PMID:20558759|PMID:21522182|PMID:21816046|PMID:22194990|PMID:22213072|PMID:22297152|PMID:22616201|PMID:23243261|PMID:23406536|PMID:23530687|PMID:24033266|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25135358|PMID:25214167|PMID:25312915|PMID:25493284|PMID:25525159|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25868377|PMID:25987458|PMID:26077327|PMID:26088049|PMID:26273692|PMID:26290895|PMID:26404900|PMID:26467025|PMID:26671124|PMID:26916285|PMID:27066573|PMID:27229680|PMID:27365461|PMID:27602406|PMID:27647186|PMID:27666772|PMID:27858744|PMID:27884173|PMID:28403181|PMID:28492532|PMID:28904466|PMID:30107846|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31407473|PMID:32140910|PMID:32400077|PMID:32504279|PMID:32528171|PMID:32576226|PMID:32934002|PMID:33250842|PMID:33610434|PMID:33715265|PMID:33927379|PMID:34426522|PMID:34440373|PMID:34559919|PMID:34906502|PMID:35135626|PMID:35273475|PMID:9536098 9020311 Dysf dysferlin gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:1322255 D RGD:7240710 20180130 OMIM 9020311 Dysf dysferlin gene DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B ISO RGD:1322255 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:10196377|PMID:10766988|PMID:11053681|PMID:11257469|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12471055|PMID:12796534|PMID:14673575|PMID:14678801|PMID:1483054|PMID:15293763|PMID:15469449|PMID:15477515|PMID:15827562|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16606933|PMID:16705711|PMID:16891820|PMID:16934466|PMID:16996541|PMID:1707005|PMID:17070050|PMID:17287450|PMID:17331981|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:17825554|PMID:17828519|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18294055|PMID:18306167|PMID:18392839|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19015158|PMID:19084402|PMID:19154541|PMID:19493611|PMID:19528035|PMID:19953532|PMID:20301480|PMID:20497525|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20623375|PMID:20817457|PMID:20981092|PMID:21173544|PMID:21392994|PMID:21484829|PMID:21520333|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22057634|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22318734|PMID:22616201|PMID:22849992|PMID:22910291|PMID:22995991|PMID:23185377|PMID:23243261|PMID:23254335|PMID:23406536|PMID:23519732|PMID:23530687|PMID:23641709|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25133958|PMID:25135358|PMID:25143362|PMID:25214167|PMID:25312915|PMID:25326637|PMID:25373139|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25591678|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25821721|PMID:25868377|PMID:25898921|PMID:25900324|PMID:25987458|PMID:26000923|PMID:2606004|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26273692|PMID:26290895|PMID:26404900|PMID:26436962|PMID:26444858|PMID:26467025|PMID:26579332|PMID:26671124|PMID:26764160|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27104310|PMID:27195159|PMID:27229680|PMID:27290639|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27641898|PMID:2764718|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27821570|PMID:27854218|PMID:27858744|PMID:27884173|PMID:28104817|PMID:28403181|PMID:28492532|PMID:28600779|PMID:28877744|PMID:29138090|PMID:29382405|PMID:29797799|PMID:29970176|PMID:30028523|PMID:30098242|PMID:30107846|PMID:30292141|PMID:30366248|PMID:30564623|PMID:30919934|PMID:31066050|PMID:31268554|PMID:31407473|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32140910|PMID:32400077|PMID:32419263|PMID:32504279|PMID:32528171|PMID:32576226|PMID:32751317|PMID:32860008|PMID:32906206|PMID:32934002|PMID:33144682|PMID:33215690|PMID:33250842|PMID:33610424|PMID:33610434|PMID:33715265|PMID:33927379|PMID:34440373|PMID:34559919|PMID:34906502|PMID:35028538|PMID:35047756|PMID:35135626|PMID:35273475|PMID:36319958|PMID:36580222|PMID:36983702|PMID:8808603|PMID:9536098|PMID:9731526|PMID:9731527 9020311 Dysf dysferlin gene DOID:0111187 distal myopathy with anterior tibial onset ISO RGD:1322255 D RGD:7240710 20180130 OMIM 9020311 Dysf dysferlin gene DOID:0111187 distal myopathy with anterior tibial onset ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset PMID:11053681|PMID:11198284|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12796534|PMID:14678801|PMID:15469449|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16891820|PMID:16934466|PMID:17070050|PMID:17512949|PMID:17576681|PMID:17698709|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18832576|PMID:18853459|PMID:19493611|PMID:19528035|PMID:20301480|PMID:20535123|PMID:20544924|PMID:20558759|PMID:21484829|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22995991|PMID:23243261|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25135358|PMID:25312915|PMID:25493284|PMID:25525159|PMID:25591676|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25868377|PMID:26000923|PMID:26077327|PMID:26088049|PMID:26404900|PMID:26467025|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27821570|PMID:27854218|PMID:27858744|PMID:28403181|PMID:28492532|PMID:29382405|PMID:30028523|PMID:30564623|PMID:30919934|PMID:31475473|PMID:31589614|PMID:31931849|PMID:32528171|PMID:32576226|PMID:32751317|PMID:33610434|PMID:33613410|PMID:33715265|PMID:33927379|PMID:34559919|PMID:9536098|PMID:9731526 9020311 Dysf dysferlin gene DOID:11720 distal myopathy ISO RGD:1322256 D RGD:9068941 20220825 MouseDO OMIM:160300 | OMIM:160500 | OMIM:254130 | OMIM:606768 | OMIM:607569 | OMIM:610099 | OMIM:613318 | OMIM:613319 | OMIM:614065 | OMIM:614321 9020311 Dysf dysferlin gene DOID:12930 dilated cardiomyopathy ISO RGD:1322255 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11468312|PMID:17070050|PMID:20623375|PMID:22194990|PMID:22910291|PMID:25741868|PMID:27884173|PMID:28492532|PMID:32906206|PMID:33927379|PMID:34559919|PMID:35047756 9020311 Dysf dysferlin gene DOID:423 myopathy ISO RGD:1322255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy 9020311 Dysf dysferlin gene DOID:5419 schizophrenia ISO RGD:1322255 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9020311 Dysf dysferlin gene DOID:543 dystonia ISO RGD:1322255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9020311 Dysf dysferlin gene DOID:574 peripheral nervous system disease ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9020311 Dysf dysferlin gene DOID:630 genetic disease ISO RGD:1322255 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17070050|PMID:21522182|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532|PMID:34906502 9020311 Dysf dysferlin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1322255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9020311 Dysf dysferlin gene DOID:870 neuropathy ISO RGD:1322255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9020311 Dysf dysferlin gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1322255 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9020311 Dysf dysferlin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1322255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9020311 Dysf dysferlin gene DOID:9004518 Dysferlinopathy ISO RGD:1322255 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:10196377|PMID:10766988|PMID:11053681|PMID:11198284|PMID:11257469|PMID:11468312|PMID:11532985|PMID:12410383|PMID:12796534|PMID:14673575|PMID:14678801|PMID:15293763|PMID:15469449|PMID:15477515|PMID:15515206|PMID:15827562|PMID:15835269|PMID:16010686|PMID:16087766|PMID:16100712|PMID:16199547|PMID:16705711|PMID:16891820|PMID:16934466|PMID:16996541|PMID:1707005|PMID:17070050|PMID:17129727|PMID:17287450|PMID:17331981|PMID:17512949|PMID:17562833|PMID:17576681|PMID:17698709|PMID:17825554|PMID:17828519|PMID:17897828|PMID:17994539|PMID:18276788|PMID:18294055|PMID:18306167|PMID:18392839|PMID:18396043|PMID:18808059|PMID:18832576|PMID:18853459|PMID:19015158|PMID:19084402|PMID:19154541|PMID:19309282|PMID:19493611|PMID:19528035|PMID:19594366|PMID:19763152|PMID:19953532|PMID:20301480|PMID:20307669|PMID:20497525|PMID:20535123|PMID:20544924|PMID:20558759|PMID:20623375|PMID:20817457|PMID:20981092|PMID:21173544|PMID:21392994|PMID:21484829|PMID:21520333|PMID:21522182|PMID:21816046|PMID:22046204|PMID:22057634|PMID:22174839|PMID:22194990|PMID:22246893|PMID:22297152|PMID:22318734|PMID:22406018|PMID:22616201|PMID:22849992|PMID:22910291|PMID:22995991|PMID:23185377|PMID:23243261|PMID:23254335|PMID:23406536|PMID:23488891|PMID:23519732|PMID:23530687|PMID:23641709|PMID:23757202|PMID:24033266|PMID:24123366|PMID:24239059|PMID:24438169|PMID:24488599|PMID:24838345|PMID:25046369|PMID:25133958|PMID:25135358|PMID:25143362|PMID:25214167|PMID:25312915|PMID:25326637|PMID:25373139|PMID:25493284|PMID:25525159|PMID:25574751|PMID:25591676|PMID:25591678|PMID:25640679|PMID:25741868|PMID:25783436|PMID:25807536|PMID:25821721|PMID:25868377|PMID:25898921|PMID:25900324|PMID:25987458|PMID:26000923|PMID:2606004|PMID:26060040|PMID:26077327|PMID:26088049|PMID:26273692|PMID:26290895|PMID:26404900|PMID:26436962|PMID:26444858|PMID:26467025|PMID:26579332|PMID:26620441|PMID:26671124|PMID:26764160|PMID:26806107|PMID:26916285|PMID:27066573|PMID:27104310|PMID:27195159|PMID:27229680|PMID:27290639|PMID:27347015|PMID:27363342|PMID:27365461|PMID:27447704|PMID:27602406|PMID:27641898|PMID:27647186|PMID:27666772|PMID:2766772|PMID:27671536|PMID:27821570|PMID:27854218|PMID:27858744|PMID:27884173|PMID:28104817|PMID:28403181|PMID:28492532|PMID:28600779|PMID:28877744|PMID:28904466|PMID:29138090|PMID:29382405|PMID:29797799|PMID:29799141|PMID:29970176|PMID:29997562|PMID:30028523|PMID:30098242|PMID:30107846|PMID:30292141|PMID:30366248|PMID:30564623|PMID:30919934|PMID:31019989|PMID:31066050|PMID:31268554|PMID:31407473|PMID:31475473|PMID:31589614|PMID:31862442|PMID:31931849|PMID:32140910|PMID:32400077|PMID:32419263|PMID:32504279|PMID:32528171|PMID:32576226|PMID:32751317|PMID:32860008|PMID:32906206|PMID:32934002|PMID:33144682|PMID:33250842|PMID:33348118|PMID:33610424|PMID:33610434|PMID:33613410|PMID:33715265|PMID:33927379|PMID:34281941|PMID:34426522|PMID:34440373|PMID:34559919|PMID:34906502|PMID:35028538|PMID:35047756|PMID:35135626|PMID:35273475|PMID:36580222|PMID:36983702|PMID:8808603|PMID:9536098|PMID:9731526 9020311 Dysf dysferlin gene DOID:9005532 Muscle Weakness ISO RGD:1322255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 9020311 Dysf dysferlin gene DOID:9884 muscular dystrophy ISO RGD:1322255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17698709|PMID:20301480|PMID:21522182|PMID:24033266|PMID:25741868|PMID:27884173|PMID:28492532 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:0050572 cone-rod dystrophy ISO RGD:1343485 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10676808|PMID:11115851|PMID:11565546|PMID:12552567|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30319355|PMID:30718709|PMID:33546218|PMID:34906470|PMID:36909829 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:0050795 cone dystrophy ISO RGD:1343485 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10676808|PMID:10951519|PMID:11115851|PMID:11565546|PMID:12552567|PMID:15175914|PMID:18055820|PMID:18487367|PMID:21602930|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:29178642|PMID:30718709|PMID:33546218|PMID:34048777|PMID:34906470|PMID:36909829|PMID:8554074|PMID:9618177 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:0060711 autosomal recessive congenital ichthyosis 3 ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 PMID:24824130 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset retinal dystrophy PMID:15024725 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1343485 D RGD:7240710 20180130 OMIM 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1343485 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12325031|PMID:12552567|PMID:15024725|PMID:15175914|PMID:15691574|PMID:16123401|PMID:16199547|PMID:16205573|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18487367|PMID:19959640|PMID:20050595|PMID:20683928|PMID:21153841|PMID:21602930|PMID:23035049|PMID:23484092|PMID:23847139|PMID:24033266|PMID:24875811|PMID:24997176|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26352687|PMID:26626312|PMID:26957854|PMID:27422788|PMID:28041643|PMID:28492532|PMID:28966547|PMID:29061346|PMID:29178642|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31630094|PMID:31704230|PMID:31964843|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:34008892|PMID:34048777|PMID:34906470|PMID:36909829|PMID:8554074|PMID:8944027|PMID:9536098|PMID:9618177|PMID:9683616|PMID:9888789 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1343485 D RGD:7240710 20180130 OMIM 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:1343485 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 | ClinVar Annotator: match by term: Retinal cone dystrophy 2 PMID:10636733|PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12325031|PMID:12552567|PMID:12623820|PMID:15024725|PMID:15123990|PMID:15175914|PMID:15504042|PMID:16123401|PMID:16199547|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18487367|PMID:19959640|PMID:20050595|PMID:20079931|PMID:20517349|PMID:20683928|PMID:21153841|PMID:21602930|PMID:22025579|PMID:22695961|PMID:23035049|PMID:23563732|PMID:23661368|PMID:23734073|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24875811|PMID:24997176|PMID:25477517|PMID:25616661|PMID:25741868|PMID:26047050|PMID:26100624|PMID:26253563|PMID:26298565|PMID:26352687|PMID:26355662|PMID:26626312|PMID:27375279|PMID:27422788|PMID:27703005|PMID:27881908|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28838317|PMID:28966547|PMID:29061346|PMID:29068479|PMID:29178642|PMID:29440533|PMID:29555955|PMID:29559409|PMID:30319355|PMID:30653986|PMID:30718709|PMID:31456290|PMID:31630094|PMID:32141364|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:34008892|PMID:34048777|PMID:34906470|PMID:35567543|PMID:36274938|PMID:36819107|PMID:36909829|PMID:8554074|PMID:8944027|PMID:9536098|PMID:9618177|PMID:9683616 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:10584 retinitis pigmentosa ISO RGD:1343485 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10676808|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:16199547|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33546218|PMID:34906470|PMID:36909829 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1343485 D RGD:9068941 20200609 RGD DNA:mutation:exon PMID:11565546|REF_RGD_ID:1599624 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:12177 common variable immunodeficiency ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1343485 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10676808|PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:16505055|PMID:17724218|PMID:17964524|PMID:20050595|PMID:20683928|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30718709|PMID:32165824|PMID:33546218|PMID:34008892|PMID:8944027|PMID:9683616 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:14791 Leber congenital amaurosis ISO RGD:1343485 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10676808|PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:15024725|PMID:16505055|PMID:17525851|PMID:17724218|PMID:17964524|PMID:20050595|PMID:20683928|PMID:21153841|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:28966547|PMID:29061346|PMID:29178642|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31144483|PMID:31456290|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:34008892|PMID:34906470|PMID:36909829|PMID:8944027|PMID:9683616 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:2729 dyskeratosis congenita ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1343485 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:4448 macular degeneration ISO RGD:1343485 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10676808|PMID:11115851|PMID:11565546|PMID:12552567|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33546218|PMID:34906470|PMID:36909829 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:630 genetic disease ISO RGD:1343485 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10951519|PMID:11328726|PMID:15024725|PMID:16199547|PMID:17964524|PMID:25741868|PMID:26047050|PMID:28492532 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:8501 fundus dystrophy ISO RGD:1343485 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:15123990|PMID:15175914|PMID:16505055|PMID:17724218|PMID:17964524|PMID:18487367|PMID:20050595|PMID:21602930|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:29061346|PMID:29555955|PMID:29559409|PMID:30319355|PMID:30718709|PMID:33546218|PMID:34008892|PMID:34906470|PMID:36909829|PMID:8554074|PMID:9618177 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:9000343 Vision Disorders ISO RGD:1343485 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10676808|PMID:11115851|PMID:11565546|PMID:12552567|PMID:24875811|PMID:25741868|PMID:26298565|PMID:28041643|PMID:28492532|PMID:30718709|PMID:33546218|PMID:34906470|PMID:36909829 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:9004519 Congenital Stationary Night Blindness 1I ISO RGD:1343485 D RGD:7240710 20190911 OMIM 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:9004519 Congenital Stationary Night Blindness 1I ISO RGD:1343485 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I PMID:10766140|PMID:10951519|PMID:11328726|PMID:16505055|PMID:17724218|PMID:17964524|PMID:20050595|PMID:23035049|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26626312|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30319355|PMID:30718709|PMID:32821499|PMID:33109612|PMID:34008892 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:1343485 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive optic atrophy PMID:10951519|PMID:11328726|PMID:16199547|PMID:25741868|PMID:28492532 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:9650 pathologic nystagmus ISO RGD:1343485 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nystagmus PMID:17964524|PMID:25741868|PMID:28492532|PMID:33546218 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:980 choroidal sclerosis ISO RGD:1343485 D RGD:7240710 20190315 OMIM 9020403 Gucy2d guanylate cyclase 2D, retinal gene DOID:980 choroidal sclerosis ISO RGD:1343485 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Choroidal dystrophy, central areolar, 1 PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:15024725|PMID:15175914|PMID:16505055|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18487367|PMID:20050595|PMID:20683928|PMID:22695961|PMID:23035049|PMID:24033266|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30718709|PMID:31456290|PMID:32865313|PMID:33546218|PMID:34008892|PMID:8554074|PMID:8733141|PMID:8944027|PMID:9536098|PMID:9618177|PMID:9683616 9020423 Rexo5 RNA exonuclease 5 gene DOID:630 genetic disease ISO RGD:1601954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020458 Adamts9 ADAM metallopeptidase with thrombospondin type 1 motif 9 gene DOID:12712 nephronophthisis ISO RGD:1315761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532|PMID:30609407 9020458 Adamts9 ADAM metallopeptidase with thrombospondin type 1 motif 9 gene DOID:630 genetic disease ISO RGD:1315761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9020458 Adamts9 ADAM metallopeptidase with thrombospondin type 1 motif 9 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1315761 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18372903|PMID:23967108 9020507 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:68467 D RGD:9068941 20220825 MouseDO OMIM:605027 9020507 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:0110519 autosomal recessive nonsyndromic deafness 68 ISO RGD:1343937 D RGD:7240710 20190315 OMIM 9020507 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:0110519 autosomal recessive nonsyndromic deafness 68 ISO RGD:1343937 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 68 PMID:16703383|PMID:24033266|PMID:24824130|PMID:25741868|PMID:26805784|PMID:28492532 9020507 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:114 heart disease ISO RGD:1343937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 9020507 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:630 genetic disease ISO RGD:1343937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 9020507 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:9000784 Fibrosis ISO RGD:1343937 D RGD:9068941 20231102 CTD CTD Direct Evidence: therapeutic PMID:37169277 9020507 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1343937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26518876 9020507 S1pr2 sphingosine-1-phosphate receptor 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1343937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22406263 9020512 Chordc1 cysteine and histidine rich domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1312263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9020512 Chordc1 cysteine and histidine rich domain containing 1 gene DOID:630 genetic disease ISO RGD:1312263 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020512 Chordc1 cysteine and histidine rich domain containing 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1312264 D RGD:9068941 20220825 MouseDO OMIM:608232 9020512 Chordc1 cysteine and histidine rich domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9020574 Nedd8 NEDD8 ubiquitin like modifier gene DOID:0060439 lysinuric protein intolerance ISO RGD:735521 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 9020574 Nedd8 NEDD8 ubiquitin like modifier gene DOID:14330 Parkinson's disease ISO RGD:735521 D RGD:9068941 20200609 RGD PMID:12533840|REF_RGD_ID:1549458 9020574 Nedd8 NEDD8 ubiquitin like modifier gene DOID:3069 malignant astrocytoma ISO RGD:735521 D RGD:9068941 20200609 RGD PMID:12533840|REF_RGD_ID:1549458 9020574 Nedd8 NEDD8 ubiquitin like modifier gene DOID:9000265 Specific Granule Deficiency ISO RGD:735521 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 9020574 Nedd8 NEDD8 ubiquitin like modifier gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:735521 D RGD:9068941 20200609 RGD PMID:12533840|REF_RGD_ID:1549458 9020574 Nedd8 NEDD8 ubiquitin like modifier gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735521 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9020582 Cth cystathionine gamma-lyase gene DOID:0090142 cystathioninuria ISO RGD:732084 D RGD:7240710 20180130 OMIM 9020582 Cth cystathionine gamma-lyase gene DOID:0090142 cystathioninuria ISO RGD:732084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency PMID:12574942|PMID:15151507|PMID:18476726|PMID:19019829|PMID:19428278|PMID:20584029|PMID:23555315|PMID:25741868|PMID:28492532 9020582 Cth cystathionine gamma-lyase gene DOID:1059 intellectual disability ISO RGD:732084 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 9020582 Cth cystathionine gamma-lyase gene DOID:1909 melanoma ISO RGD:732084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25205294 9020582 Cth cystathionine gamma-lyase gene DOID:630 genetic disease ISO RGD:732084 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9020582 Cth cystathionine gamma-lyase gene DOID:83 cataract ISO RGD:2443 D RGD:9068941 20200609 RGD PMID:15683713|REF_RGD_ID:1600763 9020582 Cth cystathionine gamma-lyase gene DOID:9002231 Fetal Growth Retardation ISO RGD:732084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 9020582 Cth cystathionine gamma-lyase gene DOID:9007748 Retinal Neovascularization ISO RGD:732084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27273718 9020582 Cth cystathionine gamma-lyase gene DOID:9252 amino acid metabolic disorder ISO RGD:732084 D RGD:9068941 20200609 RGD cystathioninuria, OMIM:219500, 940delCT, T67I, Q240E PMID:12574942|REF_RGD_ID:1600761 9020582 Cth cystathionine gamma-lyase gene DOID:9279 hyperhomocysteinemia ISO RGD:732084 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Homocysteine, total plasma, elevated PMID:15151507|PMID:25741868 9020606 Mmp25 matrix metallopeptidase 25 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1317990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9020606 Mmp25 matrix metallopeptidase 25 gene DOID:1826 epilepsy ISO RGD:1317990 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9020606 Mmp25 matrix metallopeptidase 25 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1317990 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9020606 Mmp25 matrix metallopeptidase 25 gene DOID:630 genetic disease ISO RGD:1317990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020620 Pbx1 PBX homeobox 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1317860 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28566479 9020620 Pbx1 PBX homeobox 1 gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1317860 D RGD:7240710 20190315 OMIM 9020620 Pbx1 PBX homeobox 1 gene DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay ISO RGD:1317860 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | ClinVar Annotator: match by term: PBX1-related condition | ClinVar Annotator: match by term: PBX1-related intellectual disability and pleiotropic developmental defects PMID:25741868|PMID:28492532|PMID:28566479|PMID:29036646|PMID:29226118|PMID:29966037|PMID:32860008 9020620 Pbx1 PBX homeobox 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1317860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9020620 Pbx1 PBX homeobox 1 gene DOID:1686 glaucoma ISO RGD:1308213 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (rat) PMID:28990066|REF_RGD_ID:155630605 9020620 Pbx1 PBX homeobox 1 gene DOID:1686 glaucoma ISO RGD:1317860 D RGD:9068941 20221027 RGD mRNA:increased expression:optic nerve head (human) PMID:28990066|REF_RGD_ID:155630605 9020620 Pbx1 PBX homeobox 1 gene DOID:303 substance-related disorder ISO RGD:1317860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9020620 Pbx1 PBX homeobox 1 gene DOID:3454 brain infarction ISO RGD:1308213 D RGD:9068941 20221027 RGD protein:altered expression:brain (rat) PMID:12161747|REF_RGD_ID:155630606 9020620 Pbx1 PBX homeobox 1 gene DOID:630 genetic disease ISO RGD:1317860 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28566479|PMID:29036646 9020620 Pbx1 PBX homeobox 1 gene DOID:8584 Burkitt lymphoma ISO RGD:1317860 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17244677|PMID:1967982 9020620 Pbx1 PBX homeobox 1 gene DOID:9003752 Persistent Truncus Arteriosus ISO RGD:1552910 D RGD:9068941 20221027 RGD PMID:18723445|REF_RGD_ID:155630610 9020620 Pbx1 PBX homeobox 1 gene DOID:9008565 Congenital Heart Defects, Multiple Types ISO RGD:1552910 D RGD:9068941 20221027 RGD PMID:31625560|REF_RGD_ID:155630609 9020620 Pbx1 PBX homeobox 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317860 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9020661 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1317522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9020661 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1317522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9020661 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1317522 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 9020661 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:1059 intellectual disability ISO RGD:1317522 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9020661 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:12849 autistic disorder ISO RGD:1317522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19365831 9020661 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:630 genetic disease ISO RGD:1317522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020661 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1317522 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9020661 Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1317522 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062064 9020692 F3 coagulation factor III, tissue factor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:10946084|REF_RGD_ID:11060143 9020692 F3 coagulation factor III, tissue factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16206674 9020692 F3 coagulation factor III, tissue factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:10726043|REF_RGD_ID:11340216 9020692 F3 coagulation factor III, tissue factor gene DOID:0060903 thrombosis ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11858183|PMID:25339356 9020692 F3 coagulation factor III, tissue factor gene DOID:0060903 thrombosis ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Antiphospholipid Syndrome PMID:9153543|REF_RGD_ID:11340222 9020692 F3 coagulation factor III, tissue factor gene DOID:0070004 myeloid neoplasm treatment ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:16959024|REF_RGD_ID:11340218 9020692 F3 coagulation factor III, tissue factor gene DOID:0080600 COVID-19 severity ISO RGD:737354 D RGD:9068941 20200618 RGD PMID:32198776|REF_RGD_ID:30296673 9020692 F3 coagulation factor III, tissue factor gene DOID:0080600 COVID-19 severity ISO RGD:737354 D RGD:9068941 20200813 RGD DNA:SNP: : (rs72729504) (human) PMID:32747830|REF_RGD_ID:38500238 9020692 F3 coagulation factor III, tissue factor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma treatment ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:19874310|REF_RGD_ID:11341694 9020692 F3 coagulation factor III, tissue factor gene DOID:0081267 graft-versus-host disease treatment ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:20037809|REF_RGD_ID:11340209 9020692 F3 coagulation factor III, tissue factor gene DOID:0111144 preterm premature rupture of the membranes ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19012190|REF_RGD_ID:11340215 9020692 F3 coagulation factor III, tissue factor gene DOID:10591 pre-eclampsia ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Fetal Death;protein:increased expression:plasma PMID:19736615|REF_RGD_ID:11340220 9020692 F3 coagulation factor III, tissue factor gene DOID:10763 hypertension treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:21423288|REF_RGD_ID:11341709 9020692 F3 coagulation factor III, tissue factor gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740478 9020692 F3 coagulation factor III, tissue factor gene DOID:10923 sickle cell anemia ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:15795541|REF_RGD_ID:11341683 9020692 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:2587 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung, plasma PMID:9426395|REF_RGD_ID:11060265 9020692 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20642682|PMID:7740478|PMID:9134660 9020692 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Leukemia, Myeloid PMID:3802033|REF_RGD_ID:11341675 9020692 F3 coagulation factor III, tissue factor gene DOID:11247 disseminated intravascular coagulation ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8914465|REF_RGD_ID:11060253 9020692 F3 coagulation factor III, tissue factor gene DOID:11394 adult respiratory distress syndrome ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:10528607|REF_RGD_ID:11340213 9020692 F3 coagulation factor III, tissue factor gene DOID:1168 familial hyperlipidemia ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8914465|REF_RGD_ID:11060253 9020692 F3 coagulation factor III, tissue factor gene DOID:11713 diabetic angiopathy ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16371118|REF_RGD_ID:2313861 9020692 F3 coagulation factor III, tissue factor gene DOID:11713 diabetic angiopathy ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:9285207|REF_RGD_ID:2313868 9020692 F3 coagulation factor III, tissue factor gene DOID:1184 nephrotic syndrome ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17513194 9020692 F3 coagulation factor III, tissue factor gene DOID:12531 von Willebrand's disease ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:4546024|REF_RGD_ID:11341671 9020692 F3 coagulation factor III, tissue factor gene DOID:2452 thrombophilia ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:15961065|REF_RGD_ID:11341696 9020692 F3 coagulation factor III, tissue factor gene DOID:2913 acute pancreatitis ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:serum (human, mouse) PMID:27923687|REF_RGD_ID:14398732 9020692 F3 coagulation factor III, tissue factor gene DOID:3410 carotid artery thrombosis ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:17969370|REF_RGD_ID:2313859 9020692 F3 coagulation factor III, tissue factor gene DOID:4138 bile duct disease ISO RGD:737354 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:21037076|REF_RGD_ID:11341737 9020692 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:21037076|REF_RGD_ID:11341737 9020692 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10216089 9020692 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis severity ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:28883694|REF_RGD_ID:14401724 9020692 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis severity ISO RGD:737354 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:monocyte (human) PMID:9863491|REF_RGD_ID:14401592 9020692 F3 coagulation factor III, tissue factor gene DOID:5082 liver cirrhosis treatment ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:15946135|REF_RGD_ID:14401577 9020692 F3 coagulation factor III, tissue factor gene DOID:5425 ovarian hyperstimulation syndrome severity ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12695751|REF_RGD_ID:11340210 9020692 F3 coagulation factor III, tissue factor gene DOID:5844 myocardial infarction treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:21229253|REF_RGD_ID:11062083 9020692 F3 coagulation factor III, tissue factor gene DOID:630 genetic disease ISO RGD:737354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020692 F3 coagulation factor III, tissue factor gene DOID:8947 diabetic retinopathy ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor,serum PMID:12417540|REF_RGD_ID:2313865 9020692 F3 coagulation factor III, tissue factor gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:9366751|REF_RGD_ID:11341681 9020692 F3 coagulation factor III, tissue factor gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:19535796|REF_RGD_ID:11341690 9020692 F3 coagulation factor III, tissue factor gene DOID:9000469 Viral Myocarditis ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:18495150|REF_RGD_ID:11341693 9020692 F3 coagulation factor III, tissue factor gene DOID:9000612 Cardiac Allograft Vasculopathy ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:9916935|REF_RGD_ID:11341701 9020692 F3 coagulation factor III, tissue factor gene DOID:9001268 Embolism and Thrombosis ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:16038715|REF_RGD_ID:11340219 9020692 F3 coagulation factor III, tissue factor gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:11750579|REF_RGD_ID:11341708 9020692 F3 coagulation factor III, tissue factor gene DOID:9002165 Diabetic Nephropathies ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:15004866|REF_RGD_ID:2313863 9020692 F3 coagulation factor III, tissue factor gene DOID:9002488 Peritoneal Fibrosis ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:19458308|REF_RGD_ID:7394780 9020692 F3 coagulation factor III, tissue factor gene DOID:9002514 Neointima treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:22140576|REF_RGD_ID:11341672 9020692 F3 coagulation factor III, tissue factor gene DOID:9003121 Thromboembolism ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:24402608|REF_RGD_ID:11341738 9020692 F3 coagulation factor III, tissue factor gene DOID:9003139 Cardiac Fibrosis ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:12426405|REF_RGD_ID:11341691 9020692 F3 coagulation factor III, tissue factor gene DOID:9003281 Spontaneous Abortions ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:12579195|REF_RGD_ID:1300308 9020692 F3 coagulation factor III, tissue factor gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:23873874|REF_RGD_ID:11340221 9020692 F3 coagulation factor III, tissue factor gene DOID:9003871 Venous Thrombosis ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14967414 9020692 F3 coagulation factor III, tissue factor gene DOID:9004484 Sepsis ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:9875912|REF_RGD_ID:11340217 9020692 F3 coagulation factor III, tissue factor gene DOID:9004484 Sepsis treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:26311287|REF_RGD_ID:11341736 9020692 F3 coagulation factor III, tissue factor gene DOID:9004610 Acute Lung Injury ISO RGD:2587 D RGD:9068941 20200609 RGD protein:increased expression: respiratory system fluid/secretion PMID:21964405|REF_RGD_ID:11341740 9020692 F3 coagulation factor III, tissue factor gene DOID:9005149 Ovary Reperfusion Injury treatment ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:26370456|REF_RGD_ID:11341710 9020692 F3 coagulation factor III, tissue factor gene DOID:9005332 Spontaneous Coronary Artery Dissection ISO RGD:737354 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:37248441 9020692 F3 coagulation factor III, tissue factor gene DOID:9005372 Inflammation ISO RGD:2587 D RGD:9068941 20200609 RGD protein:increased expression:lung, pes PMID:25772383|REF_RGD_ID:11341739 9020692 F3 coagulation factor III, tissue factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734290 D RGD:9068941 20200609 RGD protein:increased activity:kidney PMID:15990447|REF_RGD_ID:2313862 9020692 F3 coagulation factor III, tissue factor gene DOID:9005930 Endotoxemia ISO RGD:2587 D RGD:9068941 20200609 RGD PMID:21396682|REF_RGD_ID:5147765 9020692 F3 coagulation factor III, tissue factor gene DOID:9005930 Endotoxemia ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Protein C Deficiency PMID:20858853|REF_RGD_ID:11341685 9020692 F3 coagulation factor III, tissue factor gene DOID:9005930 Endotoxemia treatment ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:8956768|REF_RGD_ID:11340208 9020692 F3 coagulation factor III, tissue factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2587 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:25883098|REF_RGD_ID:11341735 9020692 F3 coagulation factor III, tissue factor gene DOID:9006646 Metabolic Syndrome ISO RGD:737354 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:12417540|REF_RGD_ID:2313865 9020692 F3 coagulation factor III, tissue factor gene DOID:9007102 Myocardial Ischemia ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16286589 9020692 F3 coagulation factor III, tissue factor gene DOID:9007116 Snake Bites ISO RGD:2587 D RGD:9068941 20200609 RGD protein:increased expression:lung, skin, plasma PMID:24831016|REF_RGD_ID:11341687 9020692 F3 coagulation factor III, tissue factor gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22407844 9020692 F3 coagulation factor III, tissue factor gene DOID:9008217 Hemorrhage ISO RGD:734290 D RGD:9068941 20200609 RGD PMID:8692802|REF_RGD_ID:11341698 9020692 F3 coagulation factor III, tissue factor gene DOID:9008691 Liver Injury treatment ISO RGD:734290 D RGD:9068941 20200609 RGD associated with severe acute pancreatitis PMID:27923687|REF_RGD_ID:14398732 9020692 F3 coagulation factor III, tissue factor gene DOID:9008939 Breast Neoplasms ISO RGD:737354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15562024 9020692 F3 coagulation factor III, tissue factor gene DOID:9119 acute myeloid leukemia ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:2617479|REF_RGD_ID:11340207 9020692 F3 coagulation factor III, tissue factor gene DOID:9351 diabetes mellitus ISO RGD:737354 D RGD:9068941 20200609 RGD protein:decreased expression:urine PMID:9212353|REF_RGD_ID:2313869 9020692 F3 coagulation factor III, tissue factor gene DOID:9351 diabetes mellitus ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8914465|REF_RGD_ID:11060253 9020692 F3 coagulation factor III, tissue factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:737354 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:17785358|REF_RGD_ID:2312381 9020692 F3 coagulation factor III, tissue factor gene DOID:9952 acute lymphoblastic leukemia ISO RGD:737354 D RGD:9068941 20200609 RGD PMID:8429686|REF_RGD_ID:11340211 9020724 CUNH14orf28 chromosome unknown C14orf28 homolog gene DOID:13636 Fanconi anemia ISO RGD:1316923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532|PMID:29895858|PMID:30075111 9020724 CUNH14orf28 chromosome unknown C14orf28 homolog gene DOID:630 genetic disease ISO RGD:1316923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020724 CUNH14orf28 chromosome unknown C14orf28 homolog gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316923 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9020739 CUNH3orf62 chromosome unknown C3orf62 homolog gene DOID:0060852 Pierson syndrome ISO RGD:1602042 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 9020739 CUNH3orf62 chromosome unknown C3orf62 homolog gene DOID:630 genetic disease ISO RGD:1602042 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020739 CUNH3orf62 chromosome unknown C3orf62 homolog gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1602042 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 9020744 Dph1 diphthamide biosynthesis 1 gene DOID:0060469 Miller-Dieker lissencephaly syndrome ISO RGD:1557600 D RGD:9068941 20220825 MouseDO OMIM:247200 9020744 Dph1 diphthamide biosynthesis 1 gene DOID:0070476 diphthamide deficiency syndrome ISO RGD:1352320 D RGD:8554872 20231024 ClinVar ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair PMID:14744934|PMID:24895408|PMID:25558065|PMID:25741868|PMID:26220823|PMID:28492532|PMID:29362492|PMID:29410513|PMID:29565416|PMID:30877278|PMID:32595695|PMID:32732226 9020744 Dph1 diphthamide biosynthesis 1 gene DOID:0070477 diphthamide deficiency syndrome 1 ISO RGD:1352320 D RGD:7240710 20190315 OMIM 9020744 Dph1 diphthamide biosynthesis 1 gene DOID:0070477 diphthamide deficiency syndrome 1 ISO RGD:1352320 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 PMID:25558065|PMID:25741868|PMID:30877278|PMID:33001864 9020744 Dph1 diphthamide biosynthesis 1 gene DOID:2785 Dandy-Walker syndrome ISO RGD:1352320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:25558065|PMID:25741868|PMID:30877278 9020744 Dph1 diphthamide biosynthesis 1 gene DOID:630 genetic disease ISO RGD:1352320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29565416|PMID:30877278|PMID:32732226 9020760 Tuba4a tubulin alpha 4a gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1344170 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 PMID:25741868 9020760 Tuba4a tubulin alpha 4a gene DOID:0060355 amyotrophic lateral sclerosis type 22 ISO RGD:1344170 D RGD:7240710 20180130 OMIM 9020760 Tuba4a tubulin alpha 4a gene DOID:0060355 amyotrophic lateral sclerosis type 22 ISO RGD:1344170 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 PMID:25374358|PMID:25741868 9020760 Tuba4a tubulin alpha 4a gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 9020760 Tuba4a tubulin alpha 4a gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 9020760 Tuba4a tubulin alpha 4a gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 9020760 Tuba4a tubulin alpha 4a gene DOID:1148 polydactyly ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 9020760 Tuba4a tubulin alpha 4a gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 9020760 Tuba4a tubulin alpha 4a gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 9020760 Tuba4a tubulin alpha 4a gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9020774 Iglon5 IgLON family member 5 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:2302828 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 9020774 Iglon5 IgLON family member 5 gene DOID:630 genetic disease ISO RGD:2302828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0050770 polycystic liver disease ISO RGD:1331948 D RGD:9068941 20200609 RGD protein:increased expression: cholangiocyte PMID:28543567|REF_RGD_ID:14700993 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0050770 polycystic liver disease treatment ISO RGD:1331948 D RGD:9068941 20200609 RGD PMID:28543567|REF_RGD_ID:14700993 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0080322 polycystic kidney disease ISO RGD:631400 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: cholangiocyte PMID:28543567|REF_RGD_ID:14700993 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:631400 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0110861 autosomal recessive polycystic kidney disease ISO RGD:736919 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: cholangiocyte PMID:28543567|REF_RGD_ID:14700993 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:630 genetic disease ISO RGD:736919 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:8778 Crohn's disease ISO RGD:736919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23566200 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736919 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: cholangiocyte PMID:28543567|REF_RGD_ID:14700993 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:9001581 Constipation ISO RGD:736919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23041323 9020789 Gpbar1 G protein-coupled bile acid receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9020795 Tent4a terminal nucleotidyltransferase 4A gene DOID:630 genetic disease ISO RGD:1316507 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1315180 D RGD:9068941 20221222 RGD PMID:34742001|REF_RGD_ID:155791563 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1315180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1315180 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:21820096|PMID:24033266|PMID:25558065|PMID:25824905|PMID:28492532 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1315180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1315180 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 PMID:11727201|PMID:12673792|PMID:12955720|PMID:16385454|PMID:16783378|PMID:20301500|PMID:20301601|PMID:20301718|PMID:20301788|PMID:21735565|PMID:21820096|PMID:25741868|PMID:28492532 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:0111254 glutaric acidemia I ISO RGD:1315180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:10534 stomach cancer disease_progression ISO RGD:1315180 D RGD:9068941 20221222 RGD PMID:32753649|REF_RGD_ID:155791565 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:10534 stomach cancer severity ISO RGD:1315180 D RGD:9068941 20221222 RGD PMID:29587866|REF_RGD_ID:155791564 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:1059 intellectual disability ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:10907 microcephaly ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:10908 hydrocephalus ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:13810 familial hypercholesterolemia ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:14756670|PMID:17094996|PMID:19538517|PMID:20045108|PMID:22698793|PMID:25741868 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:2748 glycogen storage disease III ISO RGD:1315180 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cori disease PMID:11727201|PMID:12673792|PMID:12955720|PMID:16385454|PMID:16783378|PMID:20301500|PMID:20301601|PMID:20301718|PMID:20301788|PMID:21735565|PMID:21820096|PMID:25741868|PMID:28492532 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:3413 alpha-mannosidosis ISO RGD:1315180 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:5408 Paget's disease of bone ISO RGD:1315180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone Paget disease PMID:25741868|PMID:28492532 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:630 genetic disease ISO RGD:1315180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:21820096|PMID:23522784|PMID:25091416|PMID:25724810|PMID:25741868|PMID:25824905|PMID:26457590|PMID:28160419|PMID:28492532|PMID:28884918|PMID:29961505|PMID:30111349|PMID:30293987 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:9002962 Adams-Oliver Syndrome 2 ISO RGD:1315180 D RGD:7240710 20180130 OMIM 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:9002962 Adams-Oliver Syndrome 2 ISO RGD:1315180 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 2 | ClinVar Annotator: match by term: DOCK6-related condition PMID:11727201|PMID:12673792|PMID:12955720|PMID:16199547|PMID:16385454|PMID:16783378|PMID:17159513|PMID:20301500|PMID:20301601|PMID:20301718|PMID:20301788|PMID:21735565|PMID:21820096|PMID:23522784|PMID:25091416|PMID:25558065|PMID:25741868|PMID:25824905|PMID:26457590|PMID:28135719|PMID:28492532|PMID:28884918|PMID:29924900|PMID:29961505|PMID:30111349|PMID:8849019 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:9004220 Adams-Oliver Syndrome 1 ISO RGD:1315180 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 1 PMID:21820096|PMID:25741868|PMID:25824905|PMID:26457590|PMID:28492532|PMID:29924900 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:9005961 Familial Hypercholanemia 1 ISO RGD:1315180 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 9020831 Dock6 dedicator of cytokinesis 6 gene DOID:9006618 Liver Metastasis ameliorates ISO RGD:1315180 D RGD:9068941 20221222 RGD associated with stomach cancer; PMID:29587866|REF_RGD_ID:155791564 9020868 Ccdc83 coiled-coil domain containing 83 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1606128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 9020868 Ccdc83 coiled-coil domain containing 83 gene DOID:1059 intellectual disability ISO RGD:1606128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9020868 Ccdc83 coiled-coil domain containing 83 gene DOID:630 genetic disease ISO RGD:1606128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020892 Tmem132a transmembrane protein 132A gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9020892 Tmem132a transmembrane protein 132A gene DOID:1059 intellectual disability ISO RGD:1606273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9020892 Tmem132a transmembrane protein 132A gene DOID:630 genetic disease ISO RGD:1606273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020908 Dnajc5b DnaJ heat shock protein family (Hsp40) member C5 beta gene DOID:630 genetic disease ISO RGD:1348913 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020924 Lpar5 lysophosphatidic acid receptor 5 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1348840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9020924 Lpar5 lysophosphatidic acid receptor 5 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1348840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9020924 Lpar5 lysophosphatidic acid receptor 5 gene DOID:0111621 Temtamy syndrome ISO RGD:1348840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9020924 Lpar5 lysophosphatidic acid receptor 5 gene DOID:630 genetic disease ISO RGD:1348840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020924 Lpar5 lysophosphatidic acid receptor 5 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1348840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9020952 Slc35b2 solute carrier family 35 member B2 gene DOID:0070403 hypomyelinating leukodystrophy 26 ISO RGD:1349281 D RGD:7240710 20230505 OMIM 9020952 Slc35b2 solute carrier family 35 member B2 gene DOID:0070403 hypomyelinating leukodystrophy 26 ISO RGD:1349281 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 26, with chondrodysplasia PMID:35325049 9020952 Slc35b2 solute carrier family 35 member B2 gene DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity ISO RGD:1349281 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations PMID:35325049 9020952 Slc35b2 solute carrier family 35 member B2 gene DOID:630 genetic disease ISO RGD:1349281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020974 Mmp19 matrix metallopeptidase 19 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1322803 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 9020974 Mmp19 matrix metallopeptidase 19 gene DOID:0080600 COVID-19 ISO RGD:1322803 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9020974 Mmp19 matrix metallopeptidase 19 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1322803 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:11438176|REF_RGD_ID:1642025 9020974 Mmp19 matrix metallopeptidase 19 gene DOID:630 genetic disease ISO RGD:1322803 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020974 Mmp19 matrix metallopeptidase 19 gene DOID:9003281 Spontaneous Abortions ISO RGD:1322803 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9020974 Mmp19 matrix metallopeptidase 19 gene DOID:9009011 Cavitary Optic Disc Anomalies ISO RGD:1322803 D RGD:7240710 20180130 OMIM 9020974 Mmp19 matrix metallopeptidase 19 gene DOID:9009011 Cavitary Optic Disc Anomalies ISO RGD:1322803 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cavitary optic disc anomalies PMID:10764862|PMID:25581579|PMID:25741868|PMID:28492532 9020974 Mmp19 matrix metallopeptidase 19 gene DOID:9970 obesity ISO RGD:1322804 D RGD:9068941 20200609 RGD PMID:15169894|REF_RGD_ID:1642022 9020974 Mmp19 matrix metallopeptidase 19 gene DOID:9970 obesity ISO RGD:1322804 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:12529376|REF_RGD_ID:1642023 9020990 Ikzf2 IKAROS family zinc finger 2 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1318602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 9020990 Ikzf2 IKAROS family zinc finger 2 gene DOID:0080600 COVID-19 ISO RGD:1318602 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9020990 Ikzf2 IKAROS family zinc finger 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1318602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 9020990 Ikzf2 IKAROS family zinc finger 2 gene DOID:3908 lung non-small cell carcinoma exacerbates ISO RGD:1318602 D RGD:9068941 20220204 RGD protein:decreased expression:venous blood, lung, regulatory T cell (human) PMID:26460798|REF_RGD_ID:151347635 9020990 Ikzf2 IKAROS family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1318602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9020990 Ikzf2 IKAROS family zinc finger 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9020990 Ikzf2 IKAROS family zinc finger 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1318602 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 9021016 Ccr8 C-C motif chemokine receptor 8 gene DOID:1824 status epilepticus ISO RGD:1312592 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 9021016 Ccr8 C-C motif chemokine receptor 8 gene DOID:2841 asthma ISO RGD:1304893 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 9021016 Ccr8 C-C motif chemokine receptor 8 gene DOID:3770 pulmonary fibrosis ISO RGD:1304893 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 9021016 Ccr8 C-C motif chemokine receptor 8 gene DOID:630 genetic disease ISO RGD:1312592 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021064 Slc31a2 solute carrier family 31 member 2 gene DOID:630 genetic disease ISO RGD:1317461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021111 Slc44a4 solute carrier family 44 member 4 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1349303 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9021111 Slc44a4 solute carrier family 44 member 4 gene DOID:0080268 autosomal dominant nonsyndromic deafness 72 ISO RGD:1349303 D RGD:7240710 20190315 OMIM 9021111 Slc44a4 solute carrier family 44 member 4 gene DOID:0080268 autosomal dominant nonsyndromic deafness 72 ISO RGD:1349303 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 72 PMID:25741868|PMID:28013291|PMID:28492532 9021111 Slc44a4 solute carrier family 44 member 4 gene DOID:630 genetic disease ISO RGD:1349303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9021138 Rhof ras homolog family member F, filopodia associated gene DOID:630 genetic disease ISO RGD:1352247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021155 Glp2r glucagon like peptide 2 receptor gene DOID:0080719 congenital myopathy 6 ISO RGD:731561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 9021155 Glp2r glucagon like peptide 2 receptor gene DOID:630 genetic disease ISO RGD:731561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021175 Tpo thyroid peroxidase gene DOID:0050328 congenital hypothyroidism ISO RGD:735786 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:25741868|PMID:28492532 9021175 Tpo thyroid peroxidase gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:735786 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:25741868 9021175 Tpo thyroid peroxidase gene DOID:0112186 thyroid dyshormonogenesis 2A ISO RGD:735786 D RGD:7240710 20180130 OMIM 9021175 Tpo thyroid peroxidase gene DOID:0112186 thyroid dyshormonogenesis 2A ISO RGD:735786 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A | ClinVar Annotator: match by term: THYROID PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 2A PMID:10084596|PMID:10468986|PMID:11061528|PMID:11238503|PMID:11874711|PMID:11916616|PMID:12213873|PMID:12843174|PMID:12938097|PMID:1401057|PMID:14751036|PMID:15055360|PMID:15279913|PMID:15745925|PMID:16684826|PMID:17468186|PMID:17547680|PMID:18029453|PMID:21490078|PMID:21900383|PMID:22919382|PMID:23236987|PMID:23329183|PMID:23512414|PMID:24482635|PMID:24790296|PMID:25241611|PMID:25564141|PMID:25741868|PMID:26565538|PMID:27373559|PMID:27525530|PMID:27617131|PMID:28444304|PMID:28492532|PMID:29546359|PMID:29790453|PMID:30022773|PMID:30240412|PMID:31287502|PMID:31430255|PMID:32078117|PMID:32088313|PMID:32319661|PMID:32424871|PMID:32425884|PMID:32765423|PMID:33179747|PMID:33368191|PMID:34248839|PMID:34276565|PMID:34426522|PMID:34539567|PMID:34780050|PMID:35002963|PMID:7550241|PMID:8027236|PMID:8964831|PMID:9024270|PMID:9814507 9021175 Tpo thyroid peroxidase gene DOID:1059 intellectual disability ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 9021175 Tpo thyroid peroxidase gene DOID:12176 goiter ISO RGD:735786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12564727|PMID:14751036|PMID:17547680 9021175 Tpo thyroid peroxidase gene DOID:12361 Graves' disease ISO RGD:735786 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 9021175 Tpo thyroid peroxidase gene DOID:1459 hypothyroidism ISO RGD:12139633 D RGD:9068941 20231123 OMIA Hypothyroidism, congenital PMID:10088086|PMID:10340243|PMID:10340250|PMID:11316303|PMID:11860240|PMID:12125189|PMID:12219595|PMID:12416867|PMID:12564727|PMID:12741092|PMID:12892299|PMID:14518649|PMID:16300118|PMID:16451201|PMID:17197623|PMID:1748985|PMID:17619002|PMID:17619004|PMID:2061865|PMID:21541884|PMID:2307615|PMID:23113744|PMID:23223904|PMID:23683021|PMID:25290378|PMID:25555336|PMID:25958183|PMID:26261983|PMID:26401337|PMID:26401340|PMID:26478542|PMID:26696394|PMID:27267591|PMID:3223852|PMID:35610669|PMID:37167252|PMID:37980820|PMID:7695146|PMID:7730121|PMID:7744675|PMID:8091179|PMID:8116929|PMID:8175472|PMID:8496104|PMID:8592797|PMID:8731132|PMID:8799987|PMID:8885174|PMID:8913019|PMID:9282344|PMID:9444634|PMID:9503354|PMID:9590447|PMID:9682425 9021175 Tpo thyroid peroxidase gene DOID:2921 glomerulonephritis ISO RGD:735786 D RGD:9068941 20200609 RGD PMID:8393543|REF_RGD_ID:7207483 9021175 Tpo thyroid peroxidase gene DOID:417 autoimmune disease ISO RGD:735786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869686 9021175 Tpo thyroid peroxidase gene DOID:630 genetic disease ISO RGD:735786 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9021175 Tpo thyroid peroxidase gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:735786 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: TSH RESISTANCE PMID:25741868 9021175 Tpo thyroid peroxidase gene DOID:9004283 Transplant Rejection ISO RGD:735786 D RGD:9068941 20200609 RGD PMID:19506389|REF_RGD_ID:7207487 9021175 Tpo thyroid peroxidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735786 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11874711|PMID:15745925|PMID:21490078|PMID:25741868|PMID:33368191|PMID:34539567 9021175 Tpo thyroid peroxidase gene DOID:9007661 Dwarfism ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 9021175 Tpo thyroid peroxidase gene DOID:9008086 Developmental Disabilities ISO RGD:735786 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9021191 Tm9sf1 transmembrane 9 superfamily member 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1316066 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 9021191 Tm9sf1 transmembrane 9 superfamily member 1 gene DOID:630 genetic disease ISO RGD:1316066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021191 Tm9sf1 transmembrane 9 superfamily member 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1316066 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 9021191 Tm9sf1 transmembrane 9 superfamily member 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1316066 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9021201 Fam229b family with sequence similarity 229 member B gene DOID:630 genetic disease ISO RGD:2298836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021213 Ankrd40 ankyrin repeat domain 40 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1602991 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 9021213 Ankrd40 ankyrin repeat domain 40 gene DOID:630 genetic disease ISO RGD:1602991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021224 Cd2bp2 CD2 cytoplasmic tail binding protein 2 gene DOID:630 genetic disease ISO RGD:1323355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021239 Dab2ip DAB2 interacting protein gene DOID:0050830 peripheral artery disease ISO RGD:732352 D RGD:9068941 20231214 RGD DNA:SNP:CDS:intron 1 (rs7025486) (human) PMID:20622881|REF_RGD_ID:401901599 9021239 Dab2ip DAB2 interacting protein gene DOID:10126 keratoconus ISO RGD:732352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus 9021239 Dab2ip DAB2 interacting protein gene DOID:10283 prostate cancer treatment ISO RGD:732352 D RGD:9068941 20231214 RGD human cells in mouse model PMID:25015118|REF_RGD_ID:401901597 9021239 Dab2ip DAB2 interacting protein gene DOID:10534 stomach cancer severity ISO RGD:732352 D RGD:9068941 20220311 RGD mRNA,protein:decreased expression:stomach (human) PMID:31713929|REF_RGD_ID:151665151 9021239 Dab2ip DAB2 interacting protein gene DOID:10534 stomach cancer susceptibility ISO RGD:732352 D RGD:9068941 20220311 RGD DNA:SNPs,haplotype:intron: (rs2243421) (human) PMID:23246699|REF_RGD_ID:151665146 9021239 Dab2ip DAB2 interacting protein gene DOID:10591 pre-eclampsia ISO RGD:732352 D RGD:9068941 20231214 RGD mRNA, protein:decreased expression:placenta (human) PMID:25604087|REF_RGD_ID:11553571 9021239 Dab2ip DAB2 interacting protein gene DOID:1324 lung cancer sexual_dimorphism ISO RGD:732352 D RGD:9068941 20220317 RGD DNA:SNP:intron 1:97906C>A (rs1571801) (human) PMID:22046421|REF_RGD_ID:151665197 9021239 Dab2ip DAB2 interacting protein gene DOID:1936 atherosclerosis ISO RGD:732352 D RGD:9068941 20231214 RGD protein:alternative forms:coronary artery (human) PMID:31619063|REF_RGD_ID:401938615 9021239 Dab2ip DAB2 interacting protein gene DOID:3393 coronary artery disease onset ISO RGD:732352 D RGD:9068941 20231214 RGD DNA:SNP:CDS:rs7025486 (human) PMID:30595311|REF_RGD_ID:401938617 9021239 Dab2ip DAB2 interacting protein gene DOID:341 peripheral vascular disease ISO RGD:732352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 9021239 Dab2ip DAB2 interacting protein gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:732352 D RGD:9068941 20220317 RGD protein:decreased expression:esophagus (human) PMID:30464518|REF_RGD_ID:151665168 9021239 Dab2ip DAB2 interacting protein gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:732352 D RGD:9068941 20220317 RGD protein:decreased expression:lung (human) PMID:31849482|REF_RGD_ID:151665206 9021239 Dab2ip DAB2 interacting protein gene DOID:5844 myocardial infarction ISO RGD:732352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 9021239 Dab2ip DAB2 interacting protein gene DOID:5844 myocardial infarction onset ISO RGD:732352 D RGD:9068941 20231214 RGD DNA:SNP:CDS:intron 1 (rs7025486) (human) PMID:20622881|REF_RGD_ID:401901599 9021239 Dab2ip DAB2 interacting protein gene DOID:630 genetic disease ISO RGD:732352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021239 Dab2ip DAB2 interacting protein gene DOID:684 hepatocellular carcinoma ISO RGD:732352 D RGD:9068941 20220311 RGD mRNA:decreased expression:liver (human) PMID:31176165|REF_RGD_ID:151665110 9021239 Dab2ip DAB2 interacting protein gene DOID:684 hepatocellular carcinoma severity ISO RGD:732352 D RGD:9068941 20220311 RGD protein:decreased expression:liver (human) PMID:22168621|REF_RGD_ID:151665148 9021239 Dab2ip DAB2 interacting protein gene DOID:7693 abdominal aortic aneurysm ISO RGD:732352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 9021239 Dab2ip DAB2 interacting protein gene DOID:7693 abdominal aortic aneurysm ISO RGD:732352 D RGD:9068941 20231214 RGD DNA:SNP:CDS:intron 1 (rs7025486) (human) PMID:20622881|REF_RGD_ID:401901599 9021239 Dab2ip DAB2 interacting protein gene DOID:7693 abdominal aortic aneurysm ISO RGD:732352 D RGD:9068941 20231214 RGD mRNA:increased expression:aorta (human) PMID:31028191|REF_RGD_ID:401938604 9021239 Dab2ip DAB2 interacting protein gene DOID:7693 abdominal aortic aneurysm sexual_dimorphism ISO RGD:732352 D RGD:9068941 20231214 RGD DNA:SNP:CDS:rs7025486 (human) PMID:28698188|REF_RGD_ID:401938619 9021239 Dab2ip DAB2 interacting protein gene DOID:807 carotid artery occlusion ISO RGD:1331914 D RGD:9068941 20231214 RGD protein:alternative forms:carotid artery (mouse) PMID:31619063|REF_RGD_ID:401938615 9021239 Dab2ip DAB2 interacting protein gene DOID:9000528 Coronary Disease ISO RGD:732352 D RGD:9068941 20231214 RGD DNA:SNP:CDS:rs7025486 (human) PMID:21444365|REF_RGD_ID:401938618 9021239 Dab2ip DAB2 interacting protein gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:732352 D RGD:9068941 20220317 RGD associated with colorectal cancer;protein:decreased expression:colorectum (human) PMID:26336990|REF_RGD_ID:11531913 9021239 Dab2ip DAB2 interacting protein gene DOID:9001004 Chronic Periodontitis ISO RGD:732352 D RGD:9068941 20231221 RGD associated with Porphyromonas gingivalis infection;DNA:SNP:CDS:rs10760187 (human) PMID:25056994|REF_RGD_ID:401938645 9021239 Dab2ip DAB2 interacting protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:732352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18073375 9021239 Dab2ip DAB2 interacting protein gene DOID:9005172 Lung Neoplasms ISO RGD:732352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22046421 9021239 Dab2ip DAB2 interacting protein gene DOID:9256 colorectal cancer disease_progression ISO RGD:1331914 D RGD:9068941 20220317 RGD PMID:26564738|REF_RGD_ID:11556182 9021239 Dab2ip DAB2 interacting protein gene DOID:9256 colorectal cancer disease_progression ISO RGD:732352 D RGD:9068941 20220317 RGD protein:decreased expression:colorectum (human) PMID:26564738|PMID:31081086|REF_RGD_ID:11556182|REF_RGD_ID:151665164 9021239 Dab2ip DAB2 interacting protein gene DOID:9256 colorectal cancer treatment ISO RGD:732352 D RGD:9068941 20220317 RGD human cells in mouse model PMID:30974224|REF_RGD_ID:151665166 9021239 Dab2ip DAB2 interacting protein gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:732352 D RGD:9068941 20220311 RGD mRNA,protein:decreased expression:epithelium of nasopharynx (human) PMID:28586035|REF_RGD_ID:151665144 9021239 Dab2ip DAB2 interacting protein gene DOID:9477 pulmonary embolism ISO RGD:732352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20622881 9021239 Dab2ip DAB2 interacting protein gene DOID:9477 pulmonary embolism ISO RGD:732352 D RGD:9068941 20231214 RGD DNA:SNP:CDS:intron 1 (rs7025486) (human) PMID:20622881|REF_RGD_ID:401901599 9021314 Rarb retinoic acid receptor beta gene DOID:0060041 autism spectrum disorder ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 9021314 Rarb retinoic acid receptor beta gene DOID:0060728 NGLY1-deficiency ISO RGD:737497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation PMID:24651605|PMID:28492532 9021314 Rarb retinoic acid receptor beta gene DOID:0080235 autosomal dominant intellectual developmental disorder 48 ISO RGD:737497 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 PMID:14973393|PMID:17506106|PMID:24075189|PMID:25457163|PMID:25741868|PMID:27120018|PMID:28492532 9021314 Rarb retinoic acid receptor beta gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:737497 D RGD:7240710 20180130 OMIM 9021314 Rarb retinoic acid receptor beta gene DOID:0111800 syndromic microphthalmia 12 ISO RGD:737497 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 12 PMID:14973393|PMID:16199547|PMID:17506106|PMID:24075189|PMID:24651605|PMID:25457163|PMID:25741868|PMID:27120018|PMID:28492532|PMID:31816153|PMID:35105264 9021314 Rarb retinoic acid receptor beta gene DOID:10629 microphthalmia ISO RGD:737497 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 9021314 Rarb retinoic acid receptor beta gene DOID:11446 sciatic neuropathy ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782282 9021314 Rarb retinoic acid receptor beta gene DOID:12270 coloboma ISO RGD:737497 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:25741868 9021314 Rarb retinoic acid receptor beta gene DOID:1749 squamous cell carcinoma ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17549354 9021314 Rarb retinoic acid receptor beta gene DOID:289 endometriosis ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 9021314 Rarb retinoic acid receptor beta gene DOID:299 adenocarcinoma ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14656941 9021314 Rarb retinoic acid receptor beta gene DOID:3908 lung non-small cell carcinoma ISO RGD:737497 D RGD:9068941 20200609 RGD DNA:hypermethylation:lung PMID:18349282|PMID:23599765|REF_RGD_ID:13503323|REF_RGD_ID:13503324 9021314 Rarb retinoic acid receptor beta gene DOID:3910 lung adenocarcinoma ISO RGD:737497 D RGD:9068941 20200609 RGD DNA:hypomethylation:lung PMID:26695082|REF_RGD_ID:13464334 9021314 Rarb retinoic acid receptor beta gene DOID:5409 lung small cell carcinoma ISO RGD:737497 D RGD:9068941 20200609 RGD DNA:methylation: : PMID:29851970|REF_RGD_ID:13825142 9021314 Rarb retinoic acid receptor beta gene DOID:630 genetic disease ISO RGD:737497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14973393|PMID:17506106|PMID:24075189|PMID:25457163|PMID:25741868|PMID:27120018|PMID:28492532 9021314 Rarb retinoic acid receptor beta gene DOID:7596 asbestos-related lung carcinoma ISO RGD:737497 D RGD:9068941 20200609 RGD DNA:hypomethylation:lung PMID:28722770|REF_RGD_ID:13503322 9021314 Rarb retinoic acid receptor beta gene DOID:9000217 Stomach Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16134180 9021314 Rarb retinoic acid receptor beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17961338 9021314 Rarb retinoic acid receptor beta gene DOID:9005172 Lung Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14656941 9021314 Rarb retinoic acid receptor beta gene DOID:9006169 Head and Neck Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17549354 9021314 Rarb retinoic acid receptor beta gene DOID:9008939 Breast Neoplasms ISO RGD:737497 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16255778 9021339 Fancg FA complementation group G gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1350702 D RGD:9068941 20200609 RGD PMID:17409780|REF_RGD_ID:11049143 9021339 Fancg FA complementation group G gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 9021339 Fancg FA complementation group G gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9021339 Fancg FA complementation group G gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1350702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 9021339 Fancg FA complementation group G gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1350702 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9021339 Fancg FA complementation group G gene DOID:0080719 congenital myopathy 6 ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532 9021339 Fancg FA complementation group G gene DOID:0080942 anauxetic dysplasia ISO RGD:1350702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 9021339 Fancg FA complementation group G gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1350702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 9021339 Fancg FA complementation group G gene DOID:0111086 Fanconi anemia complementation group G ISO RGD:1350702 D RGD:7240710 20180130 OMIM 9021339 Fancg FA complementation group G gene DOID:0111086 Fanconi anemia complementation group G ISO RGD:1350702 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group G PMID:09806548|PMID:10567393|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:21659346|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24136620|PMID:24300640|PMID:24584348|PMID:24728327|PMID:24763404|PMID:25703136|PMID:25741868|PMID:26689913|PMID:26740942|PMID:26968956|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:31839986|PMID:32546565|PMID:32947577|PMID:33718801|PMID:34422195|PMID:9536098|PMID:9806548 9021339 Fancg FA complementation group G gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1350702 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:25741868|PMID:28492532 9021339 Fancg FA complementation group G gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9021339 Fancg FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:09806548|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16643430|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:32546565|PMID:33563768|PMID:9536098|PMID:9806548 9021339 Fancg FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:09806548|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:32546565|PMID:33563768|PMID:9536098|PMID:9806548 9021339 Fancg FA complementation group G gene DOID:13636 Fanconi anemia ISO RGD:1350702 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:09806548|PMID:10567393|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:21659346|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24136620|PMID:24300640|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:26740942|PMID:26968956|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:31839986|PMID:32546565|PMID:32947577|PMID:33563768|PMID:33718801|PMID:34422195|PMID:9536098|PMID:9806548 9021339 Fancg FA complementation group G gene DOID:1793 pancreatic cancer ISO RGD:1350702 D RGD:9068941 20200609 RGD PMID:16243825|REF_RGD_ID:2317238 9021339 Fancg FA complementation group G gene DOID:2394 ovarian cancer ISO RGD:1350702 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 9021339 Fancg FA complementation group G gene DOID:403 mouth disease ISO RGD:1350702 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 9021339 Fancg FA complementation group G gene DOID:4905 pancreatic carcinoma ISO RGD:1350702 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of pancreas 9021339 Fancg FA complementation group G gene DOID:630 genetic disease ISO RGD:1350702 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9021339 Fancg FA complementation group G gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1350702 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:28717661 9021339 Fancg FA complementation group G gene DOID:9562 primary ciliary dyskinesia ISO RGD:1350702 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9021339 Fancg FA complementation group G gene DOID:9870 galactosemia ISO RGD:1350702 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9021374 Znf768 zinc finger protein 768 gene DOID:630 genetic disease ISO RGD:1605951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021381 Dhx38 DEAH-box helicase 38 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1321196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9021381 Dhx38 DEAH-box helicase 38 gene DOID:0112141 retinitis pigmentosa 84 ISO RGD:1321196 D RGD:7240710 20190315 OMIM 9021381 Dhx38 DEAH-box helicase 38 gene DOID:0112141 retinitis pigmentosa 84 ISO RGD:1321196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 84 PMID:24737827|PMID:25741868|PMID:28492532|PMID:30208423 9021381 Dhx38 DEAH-box helicase 38 gene DOID:10584 retinitis pigmentosa ISO RGD:1321196 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:30208423 9021381 Dhx38 DEAH-box helicase 38 gene DOID:630 genetic disease ISO RGD:1321196 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9021421 Ppm1e protein phosphatase, Mg2+/Mn2+ dependent 1E gene DOID:0050436 mulibrey nanism ISO RGD:1350294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:25741868 9021421 Ppm1e protein phosphatase, Mg2+/Mn2+ dependent 1E gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350294 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9021421 Ppm1e protein phosphatase, Mg2+/Mn2+ dependent 1E gene DOID:630 genetic disease ISO RGD:1350294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021421 Ppm1e protein phosphatase, Mg2+/Mn2+ dependent 1E gene DOID:9008443 Colorectal Neoplasms ISO RGD:1350294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 9021449 Lca5l lebercilin LCA5 like gene DOID:12849 autistic disorder ISO RGD:1345568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9021449 Lca5l lebercilin LCA5 like gene DOID:630 genetic disease ISO RGD:1345568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021469 Mpc2 mitochondrial pyruvate carrier 2 gene DOID:0111942 immunodeficiency 25 ISO RGD:1604029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 25 PMID:28492532 9021469 Mpc2 mitochondrial pyruvate carrier 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9021469 Mpc2 mitochondrial pyruvate carrier 2 gene DOID:630 genetic disease ISO RGD:1604029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021469 Mpc2 mitochondrial pyruvate carrier 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9021479 Atad2b ATPase family AAA domain containing 2B gene DOID:630 genetic disease ISO RGD:1604011 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021513 Ly6g6d lymphocyte antigen 6 family member G6D gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1354154 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9021513 Ly6g6d lymphocyte antigen 6 family member G6D gene DOID:11372 megacolon ISO RGD:1354154 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9021513 Ly6g6d lymphocyte antigen 6 family member G6D gene DOID:630 genetic disease ISO RGD:1354154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021520 Mrm2 mitochondrial rRNA methyltransferase 2 gene DOID:0070448 mitochondrial DNA depletion syndrome 17 ISO RGD:1314273 D RGD:7240710 20190911 OMIM 9021520 Mrm2 mitochondrial rRNA methyltransferase 2 gene DOID:0070448 mitochondrial DNA depletion syndrome 17 ISO RGD:1314273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 17 PMID:28973171 9021520 Mrm2 mitochondrial rRNA methyltransferase 2 gene DOID:630 genetic disease ISO RGD:1314273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021527 Cbx4 chromobox 4 gene DOID:630 genetic disease ISO RGD:1348844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021527 Cbx4 chromobox 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1348844 D RGD:9068941 20200609 RGD PMID:24838576|REF_RGD_ID:9586738 9021527 Cbx4 chromobox 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1348844 D RGD:9068941 20200609 RGD protein:increased expression:cytoplasm: PMID:23943028|REF_RGD_ID:9586739 9021527 Cbx4 chromobox 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1348844 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular; PMID:24838576|REF_RGD_ID:9586738 9021527 Cbx4 chromobox 4 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1348844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 9021535 Erich1 glutamate rich 1 gene DOID:630 genetic disease ISO RGD:1602977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:0050902 medulloblastoma ISO RGD:1322330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:0070004 myeloid neoplasm ISO RGD:1322330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29047144 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:0090118 congenital amegakaryocytic thrombocytopenia ISO RGD:1322330 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital amegakaryocytic thrombocytopenia PMID:10077649|PMID:10971406|PMID:11071383|PMID:11133753|PMID:11392330|PMID:11972523|PMID:15269348|PMID:15531462|PMID:16199547|PMID:16219544|PMID:16470591|PMID:16834459|PMID:16868251|PMID:17034029|PMID:17054430|PMID:17576681|PMID:17666371|PMID:18090929|PMID:18240171|PMID:18422784|PMID:18451306|PMID:18769448|PMID:19036112|PMID:19302922|PMID:19388932|PMID:20113333|PMID:20188141|PMID:21162090|PMID:21225925|PMID:21228398|PMID:21326037|PMID:21489838|PMID:21659346|PMID:22180433|PMID:22389068|PMID:23103231|PMID:23625800|PMID:23908116|PMID:24033266|PMID:24119002|PMID:24438083|PMID:24728327|PMID:25023898|PMID:25538044|PMID:25741868|PMID:26316487|PMID:26423830|PMID:26854587|PMID:27069254|PMID:27100302|PMID:27418648|PMID:27449473|PMID:28104920|PMID:28492532|PMID:28697167|PMID:28823277|PMID:28859041|PMID:29384262|PMID:29625052|PMID:30840646|PMID:30886832|PMID:31064749|PMID:31249973|PMID:31294534|PMID:32581362|PMID:32581363|PMID:32703794|PMID:33718801|PMID:34573280|PMID:35314707|PMID:35477182|PMID:35776903|PMID:36451132|PMID:8073287|PMID:9536098|PMID:971406 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1322330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:1588 thrombocytopenia ISO RGD:1322330 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10971406|PMID:11133753|PMID:11972523|PMID:16199547|PMID:16470591|PMID:18240171|PMID:18422784|PMID:19302922|PMID:21225925|PMID:21489838|PMID:21659346|PMID:24033266|PMID:24119002|PMID:24438083|PMID:24728327|PMID:25538044|PMID:25741868|PMID:26854587|PMID:28492532|PMID:28859041|PMID:31064749|PMID:32581362|PMID:8073287|PMID:971406 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:1588 thrombocytopenia ameliorates ISO RGD:1322330 D RGD:9068941 20210521 RGD associated with End Stage Liver Disease PMID:32841939|REF_RGD_ID:126925754 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:1883 hepatitis C ISO RGD:1322330 D RGD:9068941 20210521 RGD mRNA:decreased expression:liver (human) PMID:23157389|REF_RGD_ID:126925755 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:1909 melanoma ISO RGD:1322330 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2043 hepatitis B ISO RGD:1322330 D RGD:9068941 20210521 RGD mRNA:decreased expression:liver (human) PMID:23157389|REF_RGD_ID:126925755 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2213 hemorrhagic disease ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:11972523|PMID:16470591|PMID:21659346|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28859041|PMID:32703794 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2224 essential thrombocythemia ISO RGD:1322330 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1 PMID:10971406|PMID:11071383|PMID:11133753|PMID:14764528|PMID:15269348|PMID:15531462|PMID:16199547|PMID:16470591|PMID:17054430|PMID:17666371|PMID:18090929|PMID:18422784|PMID:18451306|PMID:18528423|PMID:19483125|PMID:19608689|PMID:20151976|PMID:20188141|PMID:21489838|PMID:23970983|PMID:24033266|PMID:24438083|PMID:24728327|PMID:25741868|PMID:26316487|PMID:27069254|PMID:28492532|PMID:28697167|PMID:31064749|PMID:35776903|PMID:8073287 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2226 myeloproliferative neoplasm ISO RGD:1322330 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:14764528|PMID:18451306|PMID:18528423|PMID:19483125|PMID:19608689|PMID:20151976|PMID:21228032|PMID:23970983|PMID:25741868 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2228 thrombocytosis ISO RGD:1322330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15813844|PMID:16484586 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:2228 thrombocytosis ISO RGD:1322330 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.317C > T,p.P106L(human) PMID:19036112|REF_RGD_ID:11073684 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:4971 myelofibrosis ISO RGD:1322330 D RGD:7240710 20180130 OMIM 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:4971 myelofibrosis ISO RGD:1322330 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myelofibrosis with myeloid metaplasia | ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis PMID:10971406|PMID:11071383|PMID:11133753|PMID:14764528|PMID:16199547|PMID:16470591|PMID:16834459|PMID:16868251|PMID:17666371|PMID:18090929|PMID:18451306|PMID:18528423|PMID:18769448|PMID:19388932|PMID:19483125|PMID:19608689|PMID:20113333|PMID:20151976|PMID:20188141|PMID:21326037|PMID:21489838|PMID:23625800|PMID:23970983|PMID:24033266|PMID:24438083|PMID:24728327|PMID:25023898|PMID:25741868|PMID:26316487|PMID:28492532|PMID:28823277|PMID:31064749|PMID:31294534|PMID:32703794|PMID:35477182|PMID:8073287 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:630 genetic disease ISO RGD:1322330 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15531462|PMID:25741868|PMID:28492532 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:684 hepatocellular carcinoma ISO RGD:1322331 D RGD:9068941 20210521 RGD human cells in mouse model PMID:23157389|REF_RGD_ID:126925755 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:8692 myeloid leukemia ISO RGD:1322330 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:10621836|REF_RGD_ID:10449009 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9000940 Thrombocytosis, Benign Familial Microcytic ISO RGD:1322330 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic PMID:11133753|PMID:16199547|PMID:16470591|PMID:18090929|PMID:20188141|PMID:21489838|PMID:24033266|PMID:24438083|PMID:24728327|PMID:25741868|PMID:26316487|PMID:28492532|PMID:31064749|PMID:8073287 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9006445 Congenital Amegakaryocytic Thrombocytopenia 1 ISO RGD:1322330 D RGD:7240710 20230906 OMIM 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9006445 Congenital Amegakaryocytic Thrombocytopenia 1 ISO RGD:1322330 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 1 PMID:10971406|PMID:11071383|PMID:11133753|PMID:16199547|PMID:16470591|PMID:17666371|PMID:18090929|PMID:18422784|PMID:20188141|PMID:21489838|PMID:24033266|PMID:24438083|PMID:24728327|PMID:25741868|PMID:26316487|PMID:28492532|PMID:31064749|PMID:35776903|PMID:8073287 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9006532 Hematologic Neoplasms ISO RGD:1322330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm PMID:16834459|PMID:16868251|PMID:18769448|PMID:20113333|PMID:21326037|PMID:25023898|PMID:25741868|PMID:28492532|PMID:28823277|PMID:31294534 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9006618 Liver Metastasis ISO RGD:1322331 D RGD:9068941 20210820 RGD associated with pancreatic ductal adenocarcinoma; human cells in mouse model PMID:30770989|REF_RGD_ID:126925751 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9006618 Liver Metastasis exacerbates ISO RGD:1322330 D RGD:9068941 20210521 RGD associated with pancreatic cancer; protein:increased expression:liver, pancreas (human) PMID:30770989|REF_RGD_ID:126925751 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9006618 Liver Metastasis severity ISO RGD:1322330 D RGD:9068941 20210820 RGD associated with colorectal carcinoma;protein:increased expression:colorectum (human) PMID:23747337|REF_RGD_ID:126925752 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9007879 Thrombocythemia 2 ISO RGD:1322330 D RGD:7240710 20180130 OMIM 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9007879 Thrombocythemia 2 ISO RGD:1322330 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic PMID:11133753|PMID:14764528|PMID:15269348|PMID:16199547|PMID:16470591|PMID:16834459|PMID:16868251|PMID:18090929|PMID:18451306|PMID:18528423|PMID:18769448|PMID:19036112|PMID:19483125|PMID:19608689|PMID:20113333|PMID:20151976|PMID:20188141|PMID:21326037|PMID:21489838|PMID:23970983|PMID:24033266|PMID:24438083|PMID:24728327|PMID:25023898|PMID:25538044|PMID:25741868|PMID:26316487|PMID:27069254|PMID:28492532|PMID:28823277|PMID:31064749|PMID:31294534|PMID:32703794|PMID:34573280|PMID:8073287 9021547 Mpl MPL proto-oncogene, thrombopoietin receptor gene DOID:9008163 Chronic Hepatitis B ISO RGD:1322330 D RGD:9068941 20210820 RGD protein:decreased expression:blood serum (human) PMID:28871230|REF_RGD_ID:150340590 9021585 Akr1e2 aldo-keto reductase family 1 member E2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1320023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9021585 Akr1e2 aldo-keto reductase family 1 member E2 gene DOID:5419 schizophrenia ISO RGD:1320023 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9021585 Akr1e2 aldo-keto reductase family 1 member E2 gene DOID:630 genetic disease ISO RGD:1320023 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021599 Bri3bp BRI3 binding protein gene DOID:630 genetic disease ISO RGD:1348808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021605 Pak4 p21 (RAC1) activated kinase 4 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1317048 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 9021605 Pak4 p21 (RAC1) activated kinase 4 gene DOID:10283 prostate cancer ISO RGD:1317048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9021605 Pak4 p21 (RAC1) activated kinase 4 gene DOID:4467 clear cell renal cell carcinoma disease_progression ISO RGD:1317048 D RGD:9068941 20200609 RGD PMID:25744653|REF_RGD_ID:13504816 9021605 Pak4 p21 (RAC1) activated kinase 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1317048 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9021605 Pak4 p21 (RAC1) activated kinase 4 gene DOID:630 genetic disease ISO RGD:1317048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021605 Pak4 p21 (RAC1) activated kinase 4 gene DOID:769 neuroblastoma ISO RGD:1317048 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29048629 9021605 Pak4 p21 (RAC1) activated kinase 4 gene DOID:8466 retinal degeneration ISO RGD:1317049 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16505058|REF_RGD_ID:7775028 9021605 Pak4 p21 (RAC1) activated kinase 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317048 D RGD:9068941 20200609 RGD PMID:20697354|REF_RGD_ID:7775027 9021605 Pak4 p21 (RAC1) activated kinase 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317048 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 9021627 Icam5 intercellular adhesion molecule 5 gene DOID:0080600 COVID-19 ISO RGD:1312830 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9021627 Icam5 intercellular adhesion molecule 5 gene DOID:0080600 COVID-19 ISO RGD:1312830 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 9021627 Icam5 intercellular adhesion molecule 5 gene DOID:630 genetic disease ISO RGD:1312830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021627 Icam5 intercellular adhesion molecule 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1312830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 9021627 Icam5 intercellular adhesion molecule 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1312830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500 9021646 Kbtbd12 kelch repeat and BTB domain containing 12 gene DOID:0111947 immunodeficiency 21 ISO RGD:1603549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 9021646 Kbtbd12 kelch repeat and BTB domain containing 12 gene DOID:13938 amenorrhea ISO RGD:1603549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9021646 Kbtbd12 kelch repeat and BTB domain containing 12 gene DOID:630 genetic disease ISO RGD:1603549 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021646 Kbtbd12 kelch repeat and BTB domain containing 12 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603549 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 9021646 Kbtbd12 kelch repeat and BTB domain containing 12 gene DOID:9270 alkaptonuria ISO RGD:1603549 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9021656 Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:1059 intellectual disability ISO RGD:1322778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9021656 Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:12704 ataxia telangiectasia ISO RGD:1322778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 9021656 Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:630 genetic disease ISO RGD:1322778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021656 Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1322778 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9021666 Trdmt1 tRNA aspartic acid methyltransferase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1606039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9021666 Trdmt1 tRNA aspartic acid methyltransferase 1 gene DOID:630 genetic disease ISO RGD:1606039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021666 Trdmt1 tRNA aspartic acid methyltransferase 1 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1606039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 9021688 Sema6a semaphorin 6A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9021688 Sema6a semaphorin 6A gene DOID:12849 autistic disorder ISO RGD:1313551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9021688 Sema6a semaphorin 6A gene DOID:630 genetic disease ISO RGD:1313551 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021688 Sema6a semaphorin 6A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9021688 Sema6a semaphorin 6A gene DOID:9005231 Self-Limited Delayed Puberty ISO RGD:1313551 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Delayed puberty, self-limited 9021688 Sema6a semaphorin 6A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313551 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:0050523 adult T-cell leukemia/lymphoma disease_progression ISO RGD:1349179 D RGD:9068941 20200609 RGD mRNA:splice variants:CD4+ T cell: PMID:27307595|REF_RGD_ID:11532670 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1349179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749|PMID:26829750 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:0080630 B-lymphoblastic leukemia/lymphoma disease_progression ISO RGD:1349179 D RGD:9068941 20200609 RGD mRNA:splice variants:cds: PMID:21853052|REF_RGD_ID:11532669 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:2224 essential thrombocythemia ISO RGD:10933 D RGD:9068941 20220825 MouseDO OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:224 transient cerebral ischemia ISO RGD:1560020 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:24828495|REF_RGD_ID:11532683 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:2841 asthma ISO RGD:1349179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19198610 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:3070 high grade glioma ISO RGD:1349179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23583981|PMID:26829751 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:4971 myelofibrosis ISO RGD:10933 D RGD:9068941 20220825 MouseDO OMIM:254450 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1349179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17435759|PMID:28671688 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:630 genetic disease ISO RGD:1349179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:769 neuroblastoma ISO RGD:1349179 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:9000918 Disease Progression ISO RGD:1349179 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34626302 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:9002514 Neointima treatment ISO RGD:1560020 D RGD:9068941 20200609 RGD PMID:10438864|REF_RGD_ID:11532744 9021720 Myb MYB proto-oncogene, transcription factor gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1349179 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 9021760 Exd2 exonuclease 3'-5' domain containing 2 gene DOID:630 genetic disease ISO RGD:1322357 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021784 Anapc10 anaphase promoting complex subunit 10 gene DOID:630 genetic disease ISO RGD:1318993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021807 Rpf1 ribosome production factor 1 homolog gene DOID:630 genetic disease ISO RGD:1602209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021820 Capn2 calpain 2 gene DOID:0081292 traumatic brain injury ISO RGD:2268 D RGD:9068941 20200609 RGD PMID:9469158|REF_RGD_ID:13792664 9021820 Capn2 calpain 2 gene DOID:10652 Alzheimer's disease ISO RGD:732800 D RGD:9068941 20200609 RGD protein:increased expression:cytosol PMID:9654354|REF_RGD_ID:13792661 9021820 Capn2 calpain 2 gene DOID:11446 sciatic neuropathy ISO RGD:2268 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle tissue of tibialis anterior PMID:24745757|REF_RGD_ID:13792589 9021820 Capn2 calpain 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2268 D RGD:9068941 20200609 RGD protein:increased expression, activity:nucleus PMID:25820375|REF_RGD_ID:13792650 9021820 Capn2 calpain 2 gene DOID:1540 parathyroid carcinoma ISO RGD:732800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9021820 Capn2 calpain 2 gene DOID:1561 cognitive disorder ISO RGD:732800 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:31672664 9021820 Capn2 calpain 2 gene DOID:630 genetic disease ISO RGD:732800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021820 Capn2 calpain 2 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:2268 D RGD:9068941 20200609 RGD PMID:25150005|REF_RGD_ID:13792585 9021820 Capn2 calpain 2 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2268 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries PMID:25150005|REF_RGD_ID:13792585 9021820 Capn2 calpain 2 gene DOID:9007659 Anthracycline-induced Cardiotoxicity treatment ISO RGD:2268 D RGD:9068941 20200609 RGD PMID:25634181|REF_RGD_ID:13792617 9021820 Capn2 calpain 2 gene DOID:9119 acute myeloid leukemia ISO RGD:732800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 9021820 Capn2 calpain 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9021820 Capn2 calpain 2 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:732800 D RGD:9068941 20231207 CTD CTD Direct Evidence: marker/mechanism PMID:37663545 9021853 Tlr1 toll like receptor 1 gene DOID:1024 leprosy ISO RGD:1320607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leprosy, susceptibility to, 1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5 PMID:17475868|PMID:17548585|PMID:18461142|PMID:19456232|PMID:23105135|PMID:26729809 9021853 Tlr1 toll like receptor 1 gene DOID:1024 leprosy susceptibility ISO RGD:1320607 D RGD:7240710 20240308 OMIM 9021853 Tlr1 toll like receptor 1 gene DOID:11400 pyelonephritis susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:snp:cds:p.S602I (human) PMID:19543401|REF_RGD_ID:7246906 9021853 Tlr1 toll like receptor 1 gene DOID:13564 aspergillosis susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:SNPs: :p.R80T, p.N248S (human) PMID:16461792|REF_RGD_ID:4889535 9021853 Tlr1 toll like receptor 1 gene DOID:2841 asthma susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:SNP (human) PMID:18547625|REF_RGD_ID:4889528 9021853 Tlr1 toll like receptor 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1320608 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 9021853 Tlr1 toll like receptor 1 gene DOID:2957 pulmonary tuberculosis ISO RGD:1320607 D RGD:9068941 20200609 RGD mRNA:increased expression:blood PMID:16493059|REF_RGD_ID:4889525 9021853 Tlr1 toll like receptor 1 gene DOID:2986 IgA glomerulonephritis susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095) (human) PMID:21108742|REF_RGD_ID:7246898 9021853 Tlr1 toll like receptor 1 gene DOID:399 tuberculosis susceptibility ISO RGD:1320607 D RGD:9068941 20200609 RGD DNA:snps, haplotype:cds:p.N248S, p.S602I (human) PMID:18091991|REF_RGD_ID:7246918 9021853 Tlr1 toll like receptor 1 gene DOID:630 genetic disease ISO RGD:1320607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021853 Tlr1 toll like receptor 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1320607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:32594150 9021853 Tlr1 toll like receptor 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1309975 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:19608731|REF_RGD_ID:5128779 9021853 Tlr1 toll like receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1320608 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord (mouse) PMID:21970496|REF_RGD_ID:7246886 9021853 Tlr1 toll like receptor 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1320608 D RGD:9068941 20200609 RGD PMID:21970496|REF_RGD_ID:7246886 9021853 Tlr1 toll like receptor 1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1320607 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 9021853 Tlr1 toll like receptor 1 gene DOID:9000998 Brain Injuries ISO RGD:1320607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 9021853 Tlr1 toll like receptor 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1320607 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 9021895 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:1826 epilepsy ISO RGD:1350688 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 9021895 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:3534 Lafora disease ISO RGD:1350688 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:12958597|PMID:12960212|PMID:15781812|PMID:15930137|PMID:16021330|PMID:16134145|PMID:16190947|PMID:16311711|PMID:16529633|PMID:16950819|PMID:17389303|PMID:17952067|PMID:18029386|PMID:18256682|PMID:18263761|PMID:18311786|PMID:18414213|PMID:19267391|PMID:19322595|PMID:19744044|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22047982|PMID:22815132|PMID:23317923|PMID:23806086|PMID:24452334|PMID:25270369|PMID:25401298|PMID:25667860|PMID:25683376|PMID:25741868|PMID:26467025|PMID:27194917|PMID:28492532|PMID:28556688|PMID:29431110|PMID:29588937|PMID:29655203|PMID:29899791|PMID:30701169|PMID:31227012|PMID:31758957|PMID:31858178 9021895 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1350688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12958597|PMID:15781812|PMID:16021330|PMID:16134145|PMID:16190947|PMID:16311711|PMID:16529633|PMID:17952067|PMID:18263761|PMID:18311786|PMID:18414213|PMID:19267391|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22047982|PMID:23806086|PMID:24452334|PMID:25270369|PMID:25401298|PMID:25667860|PMID:25683376|PMID:25741868|PMID:26467025|PMID:27194917|PMID:28492532|PMID:28556688|PMID:31227012 9021895 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1350688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 9021895 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:9002113 Progressive Myoclonic Epilepsy 2B ISO RGD:1350688 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b PMID:12958597|PMID:12960212|PMID:15781812|PMID:15930137|PMID:16134145|PMID:16311711|PMID:16529633|PMID:16950819|PMID:18029386|PMID:18256682|PMID:18263761|PMID:18311786|PMID:19744044|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22815132|PMID:25270369|PMID:25683376|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28556688|PMID:29431110|PMID:31227012|PMID:31758957|PMID:31858178 9021895 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:9008667 Myoclonic Epilepsy of Lafora 2 ISO RGD:1350688 D RGD:7240710 20240131 OMIM 9021895 Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 gene DOID:9008667 Myoclonic Epilepsy of Lafora 2 ISO RGD:1350688 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b PMID:12958597|PMID:12960212|PMID:15781812|PMID:15930137|PMID:16134145|PMID:16311711|PMID:16529633|PMID:16950819|PMID:18029386|PMID:18256682|PMID:18263761|PMID:18311786|PMID:19744044|PMID:20301563|PMID:20738377|PMID:21505799|PMID:22815132|PMID:25270369|PMID:25683376|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28556688|PMID:29431110|PMID:31227012|PMID:31758957|PMID:31858178 9021914 Mtss1 MTSS I-BAR domain containing 1 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1320467 D RGD:9068941 20220825 MouseDO OMIM:605027 9021914 Mtss1 MTSS I-BAR domain containing 1 gene DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ISO RGD:1320466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 9021914 Mtss1 MTSS I-BAR domain containing 1 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1320466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 9021914 Mtss1 MTSS I-BAR domain containing 1 gene DOID:630 genetic disease ISO RGD:1320466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021914 Mtss1 MTSS I-BAR domain containing 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9021914 Mtss1 MTSS I-BAR domain containing 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9021951 Tespa1 thymocyte expressed, positive selection associated 1 gene DOID:630 genetic disease ISO RGD:1605107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021965 Uba6 ubiquitin like modifier activating enzyme 6 gene DOID:630 genetic disease ISO RGD:1605374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9021965 Uba6 ubiquitin like modifier activating enzyme 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9022008 Hypk huntingtin interacting protein K gene DOID:2717 Bloom syndrome ISO RGD:1604376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9022008 Hypk huntingtin interacting protein K gene DOID:630 genetic disease ISO RGD:1604376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022008 Hypk huntingtin interacting protein K gene DOID:9256 colorectal cancer ISO RGD:1604376 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9022021 Ephb4 EPH receptor B4 gene DOID:0070210 hereditary lymphedema IA ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:25741868|PMID:28492532|PMID:28687708|PMID:30760892 9022021 Ephb4 EPH receptor B4 gene DOID:0070212 hereditary lymphedema I ISO RGD:1353692 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema type I PMID:25741868|PMID:28492532|PMID:28687708|PMID:30760892 9022021 Ephb4 EPH receptor B4 gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1353692 D RGD:7240710 20190315 OMIM 9022021 Ephb4 EPH receptor B4 gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1353692 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 PMID:25741868|PMID:27400125|PMID:28492532|PMID:28687708|PMID:29905864|PMID:30578106|PMID:32267001|PMID:33240318 9022021 Ephb4 EPH receptor B4 gene DOID:10316 pneumoconiosis ISO RGD:1353692 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 9022021 Ephb4 EPH receptor B4 gene DOID:11294 arteriovenous malformation ISO RGD:1353692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arteriovenous malformation PMID:25741868|PMID:28687708|PMID:30578106|PMID:30760892 9022021 Ephb4 EPH receptor B4 gene DOID:162 cancer ISO RGD:1353692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cancer 9022021 Ephb4 EPH receptor B4 gene DOID:264 hemangiopericytoma ISO RGD:1353692 D RGD:9068941 20221110 RGD mRNA,protein:decreased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 9022021 Ephb4 EPH receptor B4 gene DOID:2975 cystic kidney disease ISO RGD:1617630 D RGD:9068941 20220825 MouseDO 9022021 Ephb4 EPH receptor B4 gene DOID:3748 esophagus squamous cell carcinoma exacerbates ISO RGD:1353692 D RGD:9068941 20220811 RGD mRNA,protein:increased expression:esophagus squamous epithelium (human) PMID:31885720|REF_RGD_ID:153300949 9022021 Ephb4 EPH receptor B4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9022021 Ephb4 EPH receptor B4 gene DOID:630 genetic disease ISO RGD:1353692 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9022021 Ephb4 EPH receptor B4 gene DOID:6419 tetralogy of Fallot ISO RGD:1353692 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:19597493|PMID:27760138 9022021 Ephb4 EPH receptor B4 gene DOID:9000970 Focal Nodular Hyperplasia ISO RGD:1353692 D RGD:9068941 20221110 RGD mRNA:decreased expression:liver PMID:23870033|REF_RGD_ID:155646133 9022021 Ephb4 EPH receptor B4 gene DOID:9002861 Capillary Malformation-Arteriovenous Malformation 2 ISO RGD:1353692 D RGD:7240710 20190315 OMIM 9022021 Ephb4 EPH receptor B4 gene DOID:9002861 Capillary Malformation-Arteriovenous Malformation 2 ISO RGD:1353692 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 | ClinVar Annotator: match by term: EPHB4-related condition | ClinVar Annotator: match by term: EPHB4-related disorders PMID:16199547|PMID:21348050|PMID:25741868|PMID:27400125|PMID:28492532|PMID:28687708|PMID:28730721|PMID:29444212|PMID:29905864|PMID:30578106|PMID:30760892|PMID:30819650|PMID:32267001|PMID:33240318 9022021 Ephb4 EPH receptor B4 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1583193 D RGD:9068941 20221201 RGD PMID:26670826|REF_RGD_ID:155663663 9022021 Ephb4 EPH receptor B4 gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1353692 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 9022021 Ephb4 EPH receptor B4 gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:1353692 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome PMID:25741868 9022021 Ephb4 EPH receptor B4 gene DOID:9007096 Stroke ISO RGD:1353692 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868 9022021 Ephb4 EPH receptor B4 gene DOID:9008939 Breast Neoplasms ISO RGD:1353692 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23063927 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1558257 D RGD:9068941 20220825 MouseDO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30763456 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:25741868 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1353175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 PMID:19052029|PMID:23683030|PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0111844 X-linked intellectual developmental disorder 108 ISO RGD:1353175 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 PMID:25741868 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1353175 D RGD:7240710 20180130 OMIM 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1353175 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 PMID:12210308|PMID:15197169|PMID:15669143|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19052029|PMID:19344873|PMID:20473311|PMID:21686261|PMID:23020937|PMID:23674175|PMID:23683030|PMID:23934111|PMID:24306141|PMID:24759409|PMID:25649377|PMID:25741868|PMID:25914188|PMID:26059843|PMID:26467025|PMID:26539891|PMID:26544041|PMID:26633542|PMID:2673329|PMID:26733290|PMID:26793055|PMID:26795593|PMID:27009485|PMID:27062609|PMID:27369185|PMID:27535533|PMID:27652284|PMID:27665735|PMID:27864847|PMID:28220259|PMID:28295041|PMID:28492532|PMID:28815955|PMID:29026562|PMID:29100083|PMID:29302074|PMID:29322350|PMID:29720203|PMID:30206421|PMID:30328660|PMID:30666632|PMID:30842726|PMID:31415821|PMID:31512412|PMID:3177466|PMID:32005694|PMID:33368194|PMID:33624935|PMID:33753861|PMID:34906502|PMID:35347702|PMID:7943039|PMID:8236453|PMID:9536098|PMID:9628581 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:1059 intellectual disability ISO RGD:1353175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:20473311|PMID:21686261|PMID:25167861|PMID:25741868|PMID:26633542|PMID:26793055|PMID:27665735|PMID:28492532|PMID:28815955|PMID:3177466 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:1059 intellectual disability ISO RGD:1353175 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities PMID:20473311|PMID:21686261|PMID:25167861|PMID:25741868|PMID:26633542|PMID:26793055|PMID:27665735|PMID:28492532|PMID:28815955|PMID:30666632|PMID:3177466|PMID:33368194 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:10907 microcephaly ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:12849 autistic disorder ISO RGD:1353175 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:1826 epilepsy ISO RGD:1353175 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:607 paraplegia ISO RGD:1353175 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:630 genetic disease ISO RGD:1353175 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15197169|PMID:15669143|PMID:17576681|PMID:18414213|PMID:19344873|PMID:20473311|PMID:21686261|PMID:23020937|PMID:23674175|PMID:23934111|PMID:24306141|PMID:25741868|PMID:25914188|PMID:26467025|PMID:26539891|PMID:26544041|PMID:2673329|PMID:26733290|PMID:26793055|PMID:26795593|PMID:27009485|PMID:27535533|PMID:27665735|PMID:27864847|PMID:28220259|PMID:28295041|PMID:28492532|PMID:28815955|PMID:29302074|PMID:29322350|PMID:29720203|PMID:30206421|PMID:31069529|PMID:3177466|PMID:7943039|PMID:8166633|PMID:8236453|PMID:9536098|PMID:9628581 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:8927 learning disability ISO RGD:1353175 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:25741868|PMID:28492532|PMID:30206421|PMID:35347702 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353175 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9004603 Atkin Syndrome ISO RGD:1353175 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific PMID:12210308|PMID:15197169|PMID:15669143|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19052029|PMID:19344873|PMID:20473311|PMID:21686261|PMID:23020937|PMID:23674175|PMID:23683030|PMID:23934111|PMID:24306141|PMID:24759409|PMID:25649377|PMID:25741868|PMID:25914188|PMID:26059843|PMID:26467025|PMID:26539891|PMID:26544041|PMID:26633542|PMID:2673329|PMID:26733290|PMID:26793055|PMID:26795593|PMID:27009485|PMID:27062609|PMID:27369185|PMID:27535533|PMID:27652284|PMID:27665735|PMID:27864847|PMID:28220259|PMID:28295041|PMID:28492532|PMID:28815955|PMID:29026562|PMID:29100083|PMID:29302074|PMID:29322350|PMID:29720203|PMID:30206421|PMID:30328660|PMID:30666632|PMID:30842726|PMID:31415821|PMID:31512412|PMID:3177466|PMID:32005694|PMID:33368194|PMID:33624935|PMID:33753861|PMID:34906502|PMID:35347702|PMID:7943039|PMID:8236453|PMID:9536098|PMID:9628581 9022049 Iqsec2 IQ motif and Sec7 domain ArfGEF 2 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1353175 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20473311 9022079 Vsx2 visual system homeobox 2 gene DOID:0060835 isolated microphthalmia 6 ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC 9022079 Vsx2 visual system homeobox 2 gene DOID:0060839 isolated microphthalmia 2 ISO RGD:1348218 D RGD:7240710 20190315 OMIM 9022079 Vsx2 visual system homeobox 2 gene DOID:0060839 isolated microphthalmia 2 ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition PMID:10932181|PMID:11341888|PMID:15257456|PMID:16199547|PMID:17661825|PMID:20414678|PMID:21976963|PMID:23028343|PMID:24033328|PMID:25741868|PMID:26893459|PMID:26995144|PMID:27013732|PMID:28121235|PMID:28492532|PMID:30181649|PMID:3378363 9022079 Vsx2 visual system homeobox 2 gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 9022079 Vsx2 visual system homeobox 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1348218 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:20414678|PMID:21976963|PMID:24033328|PMID:26893459|PMID:28492532|PMID:30181649 9022079 Vsx2 visual system homeobox 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 9022079 Vsx2 visual system homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9022079 Vsx2 visual system homeobox 2 gene DOID:10629 microphthalmia ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia | ClinVar Annotator: match by term: Microphthalmos PMID:15257456|PMID:20414678|PMID:21976963|PMID:23028343|PMID:24033328|PMID:25741868|PMID:26893459|PMID:28492532|PMID:30181649 9022079 Vsx2 visual system homeobox 2 gene DOID:1432 blindness susceptibility ISO RGD:1348218 D RGD:9068941 20200609 RGD microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P PMID:10932181|REF_RGD_ID:734779 9022079 Vsx2 visual system homeobox 2 gene DOID:630 genetic disease ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9022079 Vsx2 visual system homeobox 2 gene DOID:9003342 Microphthalmia, Cataracts, and Iris Abnormalities ISO RGD:1348218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities PMID:10932181|PMID:11341888|PMID:17661825|PMID:23028343|PMID:25741868|PMID:27013732|PMID:28492532 9022079 Vsx2 visual system homeobox 2 gene DOID:9005041 Isolated Microphthalmia with Coloboma 3 ISO RGD:1348218 D RGD:7240710 20190315 OMIM 9022079 Vsx2 visual system homeobox 2 gene DOID:9005041 Isolated Microphthalmia with Coloboma 3 ISO RGD:1348218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3 PMID:11341888|PMID:15257456|PMID:16199547|PMID:17661825|PMID:20414678|PMID:21976963|PMID:23028343|PMID:25606400|PMID:25741868|PMID:28121235|PMID:28492532 9022089 Pla2g2e phospholipase A2 group IIE gene DOID:0060369 Parkinson's disease 6 ISO RGD:1320041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 9022089 Pla2g2e phospholipase A2 group IIE gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1320041 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9022089 Pla2g2e phospholipase A2 group IIE gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1320041 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 9022089 Pla2g2e phospholipase A2 group IIE gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1320041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 9022089 Pla2g2e phospholipase A2 group IIE gene DOID:630 genetic disease ISO RGD:1320041 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022089 Pla2g2e phospholipase A2 group IIE gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320041 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9022097 Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1350587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 9022097 Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1350587 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9022097 Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:630 genetic disease ISO RGD:1350587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022097 Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1350587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9022110 Fhl3 four and a half LIM domains 3 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1316216 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9022110 Fhl3 four and a half LIM domains 3 gene DOID:630 genetic disease ISO RGD:1316216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022110 Fhl3 four and a half LIM domains 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316216 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 9022122 Tbc1d32 TBC1 domain family member 32 gene DOID:0050545 visceral heterotaxy ISO RGD:1613911 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 9022122 Tbc1d32 TBC1 domain family member 32 gene DOID:0050778 Meckel syndrome ISO RGD:1613911 D RGD:9068941 20220825 MouseDO 9022122 Tbc1d32 TBC1 domain family member 32 gene DOID:10907 microcephaly ISO RGD:1345789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9022122 Tbc1d32 TBC1 domain family member 32 gene DOID:14679 VACTERL association ISO RGD:1613911 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 9022122 Tbc1d32 TBC1 domain family member 32 gene DOID:1826 epilepsy ISO RGD:1345789 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9022122 Tbc1d32 TBC1 domain family member 32 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1613911 D RGD:9068941 20220825 MouseDO 9022122 Tbc1d32 TBC1 domain family member 32 gene DOID:630 genetic disease ISO RGD:1345789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9022122 Tbc1d32 TBC1 domain family member 32 gene DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive ISO RGD:1345789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive PMID:28492532 9022122 Tbc1d32 TBC1 domain family member 32 gene DOID:9406 hypopituitarism ISO RGD:1345789 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hypopituitarism PMID:25741868 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:0080102 congenital myopathy 4A ISO RGD:737580 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion | ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion PMID:10508519|PMID:10528865|PMID:12921789|PMID:15226407|PMID:15236405|PMID:15468086|PMID:17387733|PMID:17576681|PMID:18059071|PMID:18414213|PMID:19206168|PMID:19562689|PMID:20301436|PMID:21520333|PMID:22825594|PMID:23757202|PMID:24033266|PMID:24356988|PMID:24642510|PMID:25741868|PMID:26172852|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29172004|PMID:30195123|PMID:32746448|PMID:9536098 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:0080685 aortic dissection ISO RGD:737580 D RGD:9068941 20220929 RGD protein:decreased expression:aorta (human) PMID:28167124|REF_RGD_ID:155260287 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:0081337 congenital myopathy ISO RGD:737580 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:25741868|PMID:30354303|PMID:32403337|PMID:33333461 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:0081339 congenital myopathy 2B ISO RGD:737580 D RGD:7240710 20230607 OMIM 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:0081339 congenital myopathy 2B ISO RGD:737580 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital myopathy 2b, severe infantile, autosomal recessive PMID:10508519|PMID:12921789|PMID:15226407|PMID:15236405|PMID:17187373|PMID:18059071|PMID:19562689|PMID:22825594|PMID:24356988|PMID:25182138|PMID:25741868|PMID:27854218|PMID:28492532 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:0081340 congenital myopathy 2C ISO RGD:737580 D RGD:7240710 20230607 OMIM 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:0081340 congenital myopathy 2C ISO RGD:737580 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Congenital myopathy 2c, severe infantile, autosomal dominant PMID:10508519|PMID:11333380|PMID:15226407|PMID:15236405|PMID:15468086|PMID:17227580|PMID:17387733|PMID:19206168|PMID:20301436|PMID:21303860|PMID:22067542|PMID:22174871|PMID:22442437|PMID:23294764|PMID:25741868|PMID:27112274|PMID:28492532|PMID:9185179 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:0110633 rigid spine muscular dystrophy 1 ISO RGD:737580 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine PMID:25182138|PMID:27854218 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:0110927 nemaline myopathy 3 ISO RGD:737580 D RGD:7240710 20180130 OMIM 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:0110927 nemaline myopathy 3 ISO RGD:737580 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive | ClinVar Annotator: match by term: Nemaline myopathy 3, with intranuclear rods | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the alpha-actin gene PMID:10508519|PMID:12921789|PMID:1351946|PMID:15226407|PMID:15236405|PMID:15468086|PMID:18059071|PMID:18414213|PMID:19562689|PMID:20301436|PMID:22095987|PMID:22825594|PMID:23394784|PMID:24356988|PMID:24642510|PMID:25635128|PMID:25741868|PMID:25938801|PMID:26172852|PMID:26337181|PMID:27447704|PMID:28492532|PMID:29288010|PMID:30732915|PMID:30792901|PMID:4952447|PMID:9401010 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:0111375 fetal akinesia deformation sequence syndrome ISO RGD:737580 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence PMID:25741868|PMID:33060286 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:737580 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:19562689|PMID:25741868|PMID:28492532|PMID:31680123|PMID:33060286 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:12930 dilated cardiomyopathy ISO RGD:737580 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:30354303|PMID:32746448 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:14717 centronuclear myopathy ISO RGD:737580 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:25741868|PMID:32668698 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:1540 parathyroid carcinoma ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:3191 nemaline myopathy ISO RGD:737580 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Nemaline myopathy PMID:19562689|PMID:23757202|PMID:25741868|PMID:27242277|PMID:28492532|PMID:32403337|PMID:32668698|PMID:33333461|PMID:36233295 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:397 restrictive cardiomyopathy ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:10528865|PMID:17576681|PMID:18414213|PMID:19562689|PMID:23757202|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:422 congenital structural myopathy ISO RGD:737580 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:10508519|PMID:12921789|PMID:15226407|PMID:15236405|PMID:15468086|PMID:18059071|PMID:19562689|PMID:20301436|PMID:22825594|PMID:24356988|PMID:24642510|PMID:25741868|PMID:26172852|PMID:28492532 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:423 myopathy ISO RGD:737580 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Myopathy PMID:25741868|PMID:29792937|PMID:31069529|PMID:34440373 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:440 neuromuscular disease ISO RGD:737580 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:12921789|PMID:15226407|PMID:17227580|PMID:19562689|PMID:24033266|PMID:25470062|PMID:25525159|PMID:25741868|PMID:28492532|PMID:32403337|PMID:32528171 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:630 genetic disease ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12921789|PMID:19284548|PMID:25741868|PMID:28492532 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:9000184 Ventricular Fibrillation ISO RGD:2025 D RGD:9068941 20200609 RGD PMID:16452123|REF_RGD_ID:1598720 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:9002252 Scapulohumeroperoneal Myopathy ISO RGD:737580 D RGD:7240710 20190315 OMIM 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:9002252 Scapulohumeroperoneal Myopathy ISO RGD:737580 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, scapulohumeroperoneal PMID:10508519|PMID:12921789|PMID:1351946|PMID:15226407|PMID:15236405|PMID:15468086|PMID:18059071|PMID:19562689|PMID:20301436|PMID:22095987|PMID:22825594|PMID:23394784|PMID:24356988|PMID:24642510|PMID:24787270|PMID:24852243|PMID:25741868|PMID:25938801|PMID:26172852|PMID:26337181|PMID:27447704|PMID:28492532|PMID:29288010|PMID:30732915|PMID:30792901|PMID:4952447|PMID:9401010 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:9003151 Myopathy, Actin, Congenital, with Excess of Thin Myofilaments ISO RGD:737580 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Myopathy, actin, congenital, with excess of thin myofilaments PMID:10508519|PMID:12921789|PMID:1351946|PMID:15226407|PMID:15236405|PMID:15468086|PMID:18059071|PMID:19562689|PMID:20301436|PMID:22095987|PMID:22825594|PMID:23394784|PMID:24356988|PMID:24642510|PMID:25635128|PMID:25741868|PMID:25938801|PMID:26172852|PMID:26337181|PMID:27447704|PMID:28492532|PMID:29288010|PMID:30732915|PMID:30792901|PMID:4952447|PMID:9401010 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10601118 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:9005803 Intranuclear Rod Myopathy ISO RGD:737580 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Intranuclear rod myopathy PMID:24787270|PMID:25741868|PMID:33667896|PMID:34440373 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:9006223 Kidney Reperfusion Injury ameliorates ISO RGD:737581 D RGD:9068941 20230601 RGD PMID:24920753|REF_RGD_ID:329845564 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:737580 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:10508519|PMID:10528865|PMID:10838259|PMID:11166164|PMID:11333380|PMID:11525890|PMID:12921789|PMID:1351946|PMID:14733965|PMID:15138616|PMID:15198992|PMID:15226407|PMID:15236405|PMID:15336687|PMID:15468086|PMID:15520409|PMID:16199547|PMID:16427282|PMID:16945536|PMID:16945537|PMID:17187373|PMID:17227580|PMID:17387733|PMID:17576681|PMID:17705262|PMID:18059071|PMID:18414213|PMID:18487519|PMID:18976909|PMID:19206168|PMID:19553121|PMID:19562689|PMID:20179953|PMID:20301436|PMID:20303757|PMID:20621480|PMID:21514153|PMID:21520333|PMID:22067542|PMID:22095987|PMID:22825594|PMID:23102861|PMID:23294764|PMID:23305948|PMID:23394784|PMID:23650303|PMID:23757202|PMID:24033266|PMID:24313005|PMID:24356988|PMID:24642510|PMID:24787270|PMID:24852243|PMID:25088345|PMID:25182138|PMID:25214167|PMID:25326635|PMID:25470062|PMID:25525159|PMID:25635128|PMID:25741868|PMID:25747004|PMID:25938801|PMID:25987458|PMID:26172852|PMID:26337181|PMID:26436962|PMID:26467025|PMID:27074222|PMID:27112274|PMID:27357517|PMID:27447704|PMID:27854218|PMID:28256728|PMID:28357410|PMID:28416349|PMID:28492532|PMID:28606400|PMID:28780987|PMID:29172004|PMID:29274205|PMID:29288010|PMID:29731279|PMID:29792937|PMID:30253894|PMID:30354303|PMID:30732915|PMID:30792901|PMID:31127727|PMID:31321302|PMID:31680123|PMID:31724238|PMID:32154989|PMID:32222963|PMID:32573669|PMID:32989108|PMID:33667896|PMID:35081925|PMID:36233295|PMID:4952447|PMID:9185179|PMID:9401010|PMID:9536098 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:9008386 Hydrops Fetalis ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 9022162 Acta1 actin alpha 1, skeletal muscle gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9022173 Smpd4 sphingomyelin phosphodiesterase 4 gene DOID:630 genetic disease ISO RGD:1604348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022173 Smpd4 sphingomyelin phosphodiesterase 4 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1604348 D RGD:7240710 20191113 OMIM 9022173 Smpd4 sphingomyelin phosphodiesterase 4 gene DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES ISO RGD:1604348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies PMID:25741868|PMID:31495489 9022207 Bysl bystin like gene DOID:0050444 infantile Refsum disease ISO RGD:1352999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9022207 Bysl bystin like gene DOID:630 genetic disease ISO RGD:1352999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022207 Bysl bystin like gene DOID:9000998 Brain Injuries ISO RGD:727959 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:substantia nigra, striatum (rat) PMID:15305856|REF_RGD_ID:2316201 9022207 Bysl bystin like gene DOID:905 Zellweger syndrome ISO RGD:1352999 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9022218 Anxa5 annexin A5 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:17999093|REF_RGD_ID:7242031 9022218 Anxa5 annexin A5 gene DOID:0080600 COVID-19 ISO RGD:734268 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9022218 Anxa5 annexin A5 gene DOID:10591 pre-eclampsia ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19837457 9022218 Anxa5 annexin A5 gene DOID:10652 Alzheimer's disease ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression: plasma PMID:20648654|REF_RGD_ID:7242030 9022218 Anxa5 annexin A5 gene DOID:10652 Alzheimer's disease ISO RGD:734269 D RGD:9068941 20200609 RGD protein:increased expression:brain, plasma PMID:20648654|REF_RGD_ID:7242030 9022218 Anxa5 annexin A5 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:734268 D RGD:9068941 20200609 RGD mRNA:increased expression:white blood cell: PMID:19684010|REF_RGD_ID:6478714 9022218 Anxa5 annexin A5 gene DOID:11383 cryptorchidism ISO RGD:2120 D RGD:9068941 20200609 RGD protein:increased expression: seminiferous tubulle PMID:19376566|REF_RGD_ID:10053693 9022218 Anxa5 annexin A5 gene DOID:12217 Lewy body dementia ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression: plasma PMID:23576984|REF_RGD_ID:10053729 9022218 Anxa5 annexin A5 gene DOID:14330 Parkinson's disease ISO RGD:734268 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid: PMID:10584677|REF_RGD_ID:10053728 9022218 Anxa5 annexin A5 gene DOID:1459 hypothyroidism ISO RGD:2120 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland: PMID:9022675|REF_RGD_ID:2306952 9022218 Anxa5 annexin A5 gene DOID:1749 squamous cell carcinoma ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 9022218 Anxa5 annexin A5 gene DOID:2921 glomerulonephritis ISO RGD:2120 D RGD:9068941 20200609 RGD PMID:11271515|REF_RGD_ID:7241853 9022218 Anxa5 annexin A5 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19488907|REF_RGD_ID:2317538 9022218 Anxa5 annexin A5 gene DOID:3910 lung adenocarcinoma ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 9022218 Anxa5 annexin A5 gene DOID:418 systemic scleroderma severity ISO RGD:734268 D RGD:9068941 20200609 RGD PMID:21124692|REF_RGD_ID:7242029 9022218 Anxa5 annexin A5 gene DOID:438 autoimmune disease of the nervous system ISO RGD:734268 D RGD:9068941 20200609 RGD PMID:15486486|REF_RGD_ID:10053691 9022218 Anxa5 annexin A5 gene DOID:5844 myocardial infarction ISO RGD:2120 D RGD:9068941 20200609 RGD protein:altered localization:cardiac muscle cell, sarcolemma PMID:16501019|REF_RGD_ID:2317541 9022218 Anxa5 annexin A5 gene DOID:5844 myocardial infarction ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:8814351|REF_RGD_ID:2317543 9022218 Anxa5 annexin A5 gene DOID:5844 myocardial infarction no_association ISO RGD:734268 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1C>T (human) PMID:16025836|REF_RGD_ID:1578384 9022218 Anxa5 annexin A5 gene DOID:5844 myocardial infarction susceptibility ISO RGD:734268 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1C>T (human) PMID:12200370|REF_RGD_ID:2317542 9022218 Anxa5 annexin A5 gene DOID:630 genetic disease ISO RGD:734268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022218 Anxa5 annexin A5 gene DOID:7998 hyperthyroidism ISO RGD:2120 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland: PMID:9022675|REF_RGD_ID:2306952 9022218 Anxa5 annexin A5 gene DOID:893 Wilson disease ISO RGD:2120 D RGD:9068941 20200609 RGD protein:increased expression:liver: PMID:21751376|REF_RGD_ID:10053726 9022218 Anxa5 annexin A5 gene DOID:893 Wilson disease ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751376 9022218 Anxa5 annexin A5 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2120 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:neuron,glial cell PMID:15248295|REF_RGD_ID:10053688 9022218 Anxa5 annexin A5 gene DOID:9000217 Stomach Neoplasms ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9022218 Anxa5 annexin A5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9022218 Anxa5 annexin A5 gene DOID:9002331 Knee Osteoarthritis disease_progression ISO RGD:734268 D RGD:9068941 20200609 RGD protein:increased expression:chondrocyte: PMID:10903884|REF_RGD_ID:10053727 9022218 Anxa5 annexin A5 gene DOID:9003936 Cardiomegaly ISO RGD:2120 D RGD:9068941 20200609 RGD mRNA:increased expression:heart: PMID:10603972|REF_RGD_ID:10053694 9022218 Anxa5 annexin A5 gene DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities ISO RGD:734268 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES PMID:28492532 9022218 Anxa5 annexin A5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734268 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9022218 Anxa5 annexin A5 gene DOID:9004657 Weight Gain ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 9022218 Anxa5 annexin A5 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734268 D RGD:9068941 20200609 RGD PMID:21918686|REF_RGD_ID:7242028 9022218 Anxa5 annexin A5 gene DOID:9007102 Myocardial Ischemia ISO RGD:2120 D RGD:9068941 20200609 RGD PMID:8056721|REF_RGD_ID:7241858 9022218 Anxa5 annexin A5 gene DOID:9007364 Mouth Neoplasms ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274141 9022218 Anxa5 annexin A5 gene DOID:9007479 Habitual Abortions ISO RGD:734268 D RGD:9068941 20230427 CTD CTD Direct Evidence: marker/mechanism 9022218 Anxa5 annexin A5 gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:734268 D RGD:7240710 20230505 OMIM 9022218 Anxa5 annexin A5 gene DOID:9007820 Sudden Death no_association ISO RGD:734268 D RGD:9068941 20200609 RGD DNA:polymorphism: :-1C>T (human) PMID:16025836|REF_RGD_ID:1578384 9022218 Anxa5 annexin A5 gene DOID:9119 acute myeloid leukemia ISO RGD:734268 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 9022240 Afdn afadin, adherens junction formation factor gene DOID:0060041 autism spectrum disorder ISO RGD:731514 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9022240 Afdn afadin, adherens junction formation factor gene DOID:14330 Parkinson's disease ISO RGD:731514 D RGD:9068941 20200609 RGD protein:decreased expression: caudate-putamen, substantia nigra PMID:23393160|REF_RGD_ID:13838733 9022240 Afdn afadin, adherens junction formation factor gene DOID:3459 breast carcinoma disease_progression ISO RGD:731514 D RGD:9068941 20200609 RGD PMID:16819513|REF_RGD_ID:13838725 9022240 Afdn afadin, adherens junction formation factor gene DOID:630 genetic disease ISO RGD:731514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022283 Stk17b serine/threonine kinase 17b gene DOID:630 genetic disease ISO RGD:732463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022283 Stk17b serine/threonine kinase 17b gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9022295 Prss36 serine protease 36 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1604524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 9022295 Prss36 serine protease 36 gene DOID:630 genetic disease ISO RGD:1604524 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022313 Slamf7 SLAM family member 7 gene DOID:0080600 COVID-19 ISO RGD:1345987 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9022313 Slamf7 SLAM family member 7 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1345987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 9022313 Slamf7 SLAM family member 7 gene DOID:1540 parathyroid carcinoma ISO RGD:1345987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9022313 Slamf7 SLAM family member 7 gene DOID:630 genetic disease ISO RGD:1345987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022313 Slamf7 SLAM family member 7 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9022324 Phldb2 pleckstrin homology like domain family B member 2 gene DOID:0060224 atrial fibrillation ISO RGD:1350676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 9022324 Phldb2 pleckstrin homology like domain family B member 2 gene DOID:630 genetic disease ISO RGD:1350676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1319250 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30859559 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1319250 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:1319250 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1319250 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:16356934|PMID:25335493|PMID:25741868|PMID:25795793|PMID:26467025|PMID:28492532|PMID:29346770|PMID:30368668|PMID:30481304|PMID:30664951|PMID:33258288|PMID:33587123|PMID:33792302 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060580 Noonan syndrome 2 ISO RGD:1319250 D RGD:7240710 20240221 OMIM 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060580 Noonan syndrome 2 ISO RGD:1319250 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Noonan syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome autosomal recessive PMID:16199547|PMID:17576681|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27921248|PMID:28135719|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31128261|PMID:31182298|PMID:31438995|PMID:31533111|PMID:31883238|PMID:32623905|PMID:33128510|PMID:33897756|PMID:34853893|PMID:35391499|PMID:35979676|PMID:36113475|PMID:9536098 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060588 Noonan syndrome 10 ISO RGD:1319250 D RGD:7240710 20240221 OMIM 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0060588 Noonan syndrome 10 ISO RGD:1319250 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: LZTR1-Related Disorder | ClinVar Annotator: match by term: Noonan syndrome 10 PMID:16199547|PMID:16356934|PMID:17576681|PMID:18948947|PMID:24362817|PMID:24448499|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:27921248|PMID:28017249|PMID:28191889|PMID:28492532|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30664951|PMID:30665374|PMID:30859559|PMID:31182298|PMID:31533111|PMID:31825158|PMID:32041611|PMID:32981126|PMID:33258288|PMID:33413596|PMID:33587123|PMID:34401172|PMID:9536098 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0070481 schwannomatosis 2 ISO RGD:1319250 D RGD:7240710 20240221 OMIM 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0070481 schwannomatosis 2 ISO RGD:1319250 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Schwannomatosis 2 PMID:16199547|PMID:17576681|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26803811|PMID:26901136|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32371905|PMID:32443592|PMID:32623905|PMID:32981126|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34645488|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35453828|PMID:35638454|PMID:35726512|PMID:35806449|PMID:35979676|PMID:36113475|PMID:9536098 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0080174 bladder exstrophy ISO RGD:1319250 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Bladder exstrophy PMID:25741868|PMID:28492532 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0080690 RASopathy ISO RGD:1319250 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: RASopathy PMID:16356934|PMID:24362817|PMID:25303977|PMID:25741868|PMID:25795793|PMID:26467025|PMID:27921248|PMID:28492532|PMID:29409008|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31128261|PMID:31438995|PMID:31533111|PMID:31825158|PMID:32981126|PMID:33258288|PMID:33587123 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1319250 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:25741868 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:10534 stomach cancer disease_progression ISO RGD:1319250 D RGD:9068941 20220421 RGD mRNA:altered expression:stomach, tumor (human) PMID:29069277|REF_RGD_ID:151893464 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:1059 intellectual disability ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:11198 DiGeorge syndrome ISO RGD:1319250 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:11372 megacolon ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1319250 D RGD:9068941 20220415 RGD DNA:missense mutation:c.1394C>T p.A465V, c.1330G>A p.D444N (human) PMID:32004086|REF_RGD_ID:151708727 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:12583 velocardiofacial syndrome ISO RGD:1319250 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:12849 autistic disorder ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:1319250 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:1826 epilepsy ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3068 glioblastoma ISO RGD:1319250 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23917401 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3068 glioblastoma ISO RGD:1319250 D RGD:9068941 20220415 RGD DNA:mutations:multiple (human) PMID:23917401|REF_RGD_ID:151708722 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3192 neurilemmoma ISO RGD:1319250 D RGD:9068941 20220414 RGD DNA:missense mutation:cds,multiple (human) PMID:24362817|REF_RGD_ID:151676717 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3204 schwannomatosis ISO RGD:1319250 D RGD:8554872 20231024 ClinVar ClinVar Annotator: match by term: Schwannomatosis PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:27921248|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31130284|PMID:31182298|PMID:31219622|PMID:32371905 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3490 Noonan syndrome ISO RGD:1319250 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome PMID:16356934|PMID:25741868|PMID:25795793|PMID:26467025|PMID:28492532|PMID:29469822|PMID:30368668|PMID:32623905|PMID:33258288|PMID:33587123 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:5419 schizophrenia ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:630 genetic disease ISO RGD:1319250 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16356934|PMID:18072270|PMID:19582488|PMID:22105938|PMID:23401320|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:27472264|PMID:28295212|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31533111|PMID:31573083|PMID:31825158 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1319250 D RGD:9068941 20220421 RGD DNA:missense mutation:cds, liver (human) PMID:28622513|REF_RGD_ID:151893487 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9003145 Nuchal Bleb, Familial ISO RGD:1319250 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Fetal cystic hygroma PMID:25741868|PMID:25795793|PMID:28492532|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31533111|PMID:31825158 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35453828|PMID:35806449|PMID:35813072|PMID:9536098 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319250 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35806449|PMID:35813072|PMID:35979676|PMID:9536098 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319250 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:34853893|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35806449|PMID:35813072|PMID:35840934|PMID:35979676|PMID:9536098 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319250 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34853893|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35813072|PMID:35840934|PMID:35979676|PMID:36113475|PMID:36252119|PMID:9536098 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9007096 Stroke ISO RGD:1319250 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:28191889|PMID:28492532 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9007661 Dwarfism ISO RGD:1319250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short stature PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31182298 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1319250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis PMID:25303977|PMID:25741868|PMID:28492532|PMID:32981126|PMID:33258288 9022359 Lztr1 leucine zipper like post translational regulator 1 gene DOID:9008582 Developmental Disease ISO RGD:1319250 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:24362817|PMID:25741868|PMID:27921248|PMID:28492532|PMID:29409008|PMID:31128261|PMID:31438995 9022394 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9022394 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:1059 intellectual disability ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9022394 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 9022394 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:3070 high grade glioma ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9022394 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:574 peripheral nervous system disease ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 9022394 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:630 genetic disease ISO RGD:1603052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9022394 Macrod1 mono-ADP ribosylhydrolase 1 gene DOID:870 neuropathy ISO RGD:1603052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:28492532 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316207 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia | ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:28642621|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33526094|PMID:34132118 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1316207 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:28642621|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32532878|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1316207 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:28492532 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1316207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:10283 prostate cancer ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:11162 respiratory failure ISO RGD:1316207 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Respiratory failure | ClinVar Annotator: match by term: Respiratory insufficiency PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1316208 D RGD:9068941 20220825 MouseDO OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:14265 pulmonary valve insufficiency ISO RGD:1316207 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary valve insufficiency PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:1826 epilepsy ISO RGD:1316207 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:2871 endometrial carcinoma ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:3082 interstitial lung disease ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:25741868 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1316207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26780485 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:5641 diffuse pulmonary fibrosis ISO RGD:1316207 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:630 genetic disease ISO RGD:1316207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:6432 pulmonary hypertension ISO RGD:1316207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26780485 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9000122 Pulmonary Surfactant Metabolism Dysfunction 3 ISO RGD:1316207 D RGD:7240710 20180130 OMIM 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9000122 Pulmonary Surfactant Metabolism Dysfunction 3 ISO RGD:1316207 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Interstitial lung disease due to ABCA3 deficiency | ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 3 PMID:15044640|PMID:15976379|PMID:16641205|PMID:16728712|PMID:17429902|PMID:17517255|PMID:17597647|PMID:17719949|PMID:18024538|PMID:18246475|PMID:18317237|PMID:18492541|PMID:18603241|PMID:18676873|PMID:19220077|PMID:19647838|PMID:20371530|PMID:20656946|PMID:21214890|PMID:22068586|PMID:22145626|PMID:22304854|PMID:22337229|PMID:22434821|PMID:22435821|PMID:22455634|PMID:22800827|PMID:22866751|PMID:22995991|PMID:23166334|PMID:23443156|PMID:23625987|PMID:24033266|PMID:24047351|PMID:24115460|PMID:24136335|PMID:24142515|PMID:24657120|PMID:24871971|PMID:25073622|PMID:25105258|PMID:25113300|PMID:25406294|PMID:25553246|PMID:25692779|PMID:25712598|PMID:25741868|PMID:26375475|PMID:26467025|PMID:26517903|PMID:26547207|PMID:26928390|PMID:27374344|PMID:27516224|PMID:27670912|PMID:28034695|PMID:28492532|PMID:28642621|PMID:28808495|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31210424|PMID:31589614|PMID:31980526|PMID:32196812|PMID:32238781|PMID:32692933|PMID:32782805|PMID:33110422|PMID:33240318|PMID:33526094|PMID:33526882|PMID:33708521|PMID:34132118|PMID:34638622|PMID:34715861|PMID:35170262|PMID:35626240|PMID:36376106|PMID:36404394|PMID:36808083|PMID:7374344 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 ISO RGD:1316207 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:25741868 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1316207 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9002884 Emphysema ISO RGD:1316207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26780485 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9003953 Surfactant Dysfunction ISO RGD:1316207 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary Surfactant Metabolism Dysfunction, Recessive | ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:15044640|PMID:15976379|PMID:16641205|PMID:16728712|PMID:16959783|PMID:17429902|PMID:17517255|PMID:17597647|PMID:17660803|PMID:18024538|PMID:18246475|PMID:18317237|PMID:18492541|PMID:18603241|PMID:18676873|PMID:19220077|PMID:19647838|PMID:20371530|PMID:20656946|PMID:21189475|PMID:21214890|PMID:22068586|PMID:22145626|PMID:22304854|PMID:22337229|PMID:22434821|PMID:22435821|PMID:22455634|PMID:22800827|PMID:22866751|PMID:22995991|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24047351|PMID:24115460|PMID:24136335|PMID:24142515|PMID:24657120|PMID:24871971|PMID:25073622|PMID:25105258|PMID:25113300|PMID:25553246|PMID:25692779|PMID:25712598|PMID:25741868|PMID:26375475|PMID:26467025|PMID:26517903|PMID:26547207|PMID:26928390|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:28602350|PMID:28642621|PMID:28808495|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32196812|PMID:32238781|PMID:32692933|PMID:32782805|PMID:33110422|PMID:33240318|PMID:33526094|PMID:33526882|PMID:33708521|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240|PMID:36404394|PMID:36808083|PMID:7374344 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9006458 Congenital Pulmonary Lymphangiectasia ISO RGD:1316207 D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Pulmonary lymphangiectasia PMID:25741868 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1316207 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 9022418 Abca3 ATP binding cassette subfamily A member 3 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1316207 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 9022457 Papola poly(A) polymerase alpha gene DOID:630 genetic disease ISO RGD:1318583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:0050440 familial partial lipodystrophy ISO RGD:1313678 D RGD:9068941 20220825 MouseDO OMIM:151660 | OMIM:604367 | OMIM:608600 | OMIM:613877 | OMIM:615238 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:0060762 restrictive dermopathy ISO RGD:1313677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome PMID:12913070|PMID:15317753|PMID:15843403|PMID:15937076|PMID:16297189|PMID:17152860|PMID:17576681|PMID:18414213|PMID:18435794|PMID:18671782|PMID:19020898|PMID:19139791|PMID:19504603|PMID:19645629|PMID:19680556|PMID:20034068|PMID:20101687|PMID:20635340|PMID:21108632|PMID:21121943|PMID:21488301|PMID:21831885|PMID:22495976|PMID:22718200|PMID:22981120|PMID:24169522|PMID:25629449|PMID:25741868|PMID:26379196|PMID:28492532|PMID:3840649|PMID:8152880|PMID:9536098 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:0070369 restrictive dermopathy 1 ISO RGD:1313677 D RGD:7240710 20230505 OMIM 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:0081127 mandibuloacral dysplasia ISO RGD:1313677 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:0081129 mandibuloacral dysplasia type B lipodystrophy ISO RGD:1313677 D RGD:7240710 20180130 OMIM 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:0081129 mandibuloacral dysplasia type B lipodystrophy ISO RGD:1313677 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy PMID:12913070|PMID:15317753|PMID:15843403|PMID:15937076|PMID:16297189|PMID:17152860|PMID:17576681|PMID:18414213|PMID:18435794|PMID:19020898|PMID:19139791|PMID:19383993|PMID:19504603|PMID:19645629|PMID:19680556|PMID:20034068|PMID:20635340|PMID:20814950|PMID:21108632|PMID:21121943|PMID:21831885|PMID:22495976|PMID:22718200|PMID:24169522|PMID:25629449|PMID:25741868|PMID:28492532|PMID:3840649|PMID:8152880|PMID:9536098 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1313677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1313678 D RGD:9068941 20220825 MouseDO OMIM:181350 | OMIM:300696 | OMIM:310300 | OMIM:612998 | OMIM:612999 | OMIM:614302 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17152860 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:3911 progeria ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23217256 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:3911 progeria ISO RGD:1313678 D RGD:9068941 20220825 MouseDO OMIM:176670 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:630 genetic disease ISO RGD:1313677 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:811 lipodystrophy ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12913070 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:811 lipodystrophy ISO RGD:1313678 D RGD:9068941 20200609 RGD PMID:21828285|REF_RGD_ID:10043099 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:9001402 Acro-Osteolysis ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12913070|PMID:17152860 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:9002644 Premature Aging ISO RGD:1313678 D RGD:9068941 20200609 RGD PMID:19014358|REF_RGD_ID:10043096 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:9006105 Craniomandibular Disorders ISO RGD:1313678 D RGD:9068941 20200609 RGD PMID:19014358|REF_RGD_ID:10043096 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:9006309 Mandibular Diseases ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12913070 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17152860 9022493 Zmpste24 zinc metallopeptidase STE24 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:1313677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18230615 9022507 Cadps calcium dependent secretion activator gene DOID:10283 prostate cancer ISO RGD:1344966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9022507 Cadps calcium dependent secretion activator gene DOID:630 genetic disease ISO RGD:1344966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022544 Aldh3a1 aldehyde dehydrogenase 3 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:733180 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9022544 Aldh3a1 aldehyde dehydrogenase 3 family member A1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:733180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 9022544 Aldh3a1 aldehyde dehydrogenase 3 family member A1 gene DOID:10126 keratoconus ISO RGD:733180 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keratoconus 9022544 Aldh3a1 aldehyde dehydrogenase 3 family member A1 gene DOID:12849 autistic disorder ISO RGD:733180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9022544 Aldh3a1 aldehyde dehydrogenase 3 family member A1 gene DOID:2349 arteriosclerosis ISO RGD:733180 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:erythrocyte PMID:3949078|REF_RGD_ID:2300309 9022544 Aldh3a1 aldehyde dehydrogenase 3 family member A1 gene DOID:630 genetic disease ISO RGD:733180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022544 Aldh3a1 aldehyde dehydrogenase 3 family member A1 gene DOID:83 cataract ISO RGD:733180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28038895 9022544 Aldh3a1 aldehyde dehydrogenase 3 family member A1 gene DOID:9001634 Meckel Syndrome 9 ISO RGD:733180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 9022544 Aldh3a1 aldehyde dehydrogenase 3 family member A1 gene DOID:9004321 Corneal Injuries ISO RGD:733180 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28038895 9022559 Zcchc14 zinc finger CCHC-type containing 14 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1349569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 9022559 Zcchc14 zinc finger CCHC-type containing 14 gene DOID:14780 KBG syndrome ISO RGD:1349569 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 9022559 Zcchc14 zinc finger CCHC-type containing 14 gene DOID:630 genetic disease ISO RGD:1349569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022559 Zcchc14 zinc finger CCHC-type containing 14 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1349569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 9022559 Zcchc14 zinc finger CCHC-type containing 14 gene DOID:9007096 Stroke ISO RGD:1349569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 9022593 Plcl2 phospholipase C like 2 gene DOID:0060417 3p deletion syndrome ISO RGD:1314267 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 9022593 Plcl2 phospholipase C like 2 gene DOID:5419 schizophrenia ISO RGD:1314267 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 9022593 Plcl2 phospholipase C like 2 gene DOID:630 genetic disease ISO RGD:1314267 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022604 Dhrs11 dehydrogenase/reductase 11 gene DOID:0060041 autism spectrum disorder ISO RGD:1601851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 9022604 Dhrs11 dehydrogenase/reductase 11 gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:1601851 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 9022604 Dhrs11 dehydrogenase/reductase 11 gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:1601851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 9022604 Dhrs11 dehydrogenase/reductase 11 gene DOID:12849 autistic disorder ISO RGD:1601851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9022604 Dhrs11 dehydrogenase/reductase 11 gene DOID:5419 schizophrenia ISO RGD:1601851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9022604 Dhrs11 dehydrogenase/reductase 11 gene DOID:630 genetic disease ISO RGD:1601851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022604 Dhrs11 dehydrogenase/reductase 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9022635 Zdhhc1 zinc finger DHHC-type containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348828 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9022635 Zdhhc1 zinc finger DHHC-type containing 1 gene DOID:630 genetic disease ISO RGD:1348828 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022720 Tvp23a trans-golgi network vesicle protein 23 homolog A gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1343449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 9022720 Tvp23a trans-golgi network vesicle protein 23 homolog A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1343449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 9022720 Tvp23a trans-golgi network vesicle protein 23 homolog A gene DOID:5812 MHC class II deficiency ISO RGD:1343449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 9022720 Tvp23a trans-golgi network vesicle protein 23 homolog A gene DOID:630 genetic disease ISO RGD:1343449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022740 Nrn1 neuritin 1 gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1351872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:22833457|PMID:28492532 9022740 Nrn1 neuritin 1 gene DOID:630 genetic disease ISO RGD:1351872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022747 Ssh2 slingshot protein phosphatase 2 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1319710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 9022747 Ssh2 slingshot protein phosphatase 2 gene DOID:630 genetic disease ISO RGD:1319710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022771 Gas2 growth arrest specific 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9022771 Gas2 growth arrest specific 2 gene DOID:10003 sensorineural hearing loss ISO RGD:1558248 D RGD:9068941 20220825 MouseDO 9022771 Gas2 growth arrest specific 2 gene DOID:1059 intellectual disability ISO RGD:1348959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9022771 Gas2 growth arrest specific 2 gene DOID:630 genetic disease ISO RGD:1348959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022771 Gas2 growth arrest specific 2 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1348959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9022792 Tmem167a transmembrane protein 167A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9022810 Zic2 Zic family member 2 gene DOID:0080074 neural tube defect ISO RGD:1322491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15136147 9022810 Zic2 Zic family member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1322491 D RGD:7240710 20180130 OMIM 9022810 Zic2 Zic family member 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1322491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 | ClinVar Annotator: match by term: ZIC2-related condition PMID:11285244|PMID:15590697|PMID:17274816|PMID:17576681|PMID:19177455|PMID:19955556|PMID:21638761|PMID:21940735|PMID:21990207|PMID:22847929|PMID:25741868|PMID:28492532|PMID:29770992|PMID:29992659|PMID:32022405|PMID:9536098|PMID:9771712 9022810 Zic2 Zic family member 2 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1322491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:22859937 9022810 Zic2 Zic family member 2 gene DOID:14701 propionic acidemia ISO RGD:1322491 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 9022810 Zic2 Zic family member 2 gene DOID:1561 cognitive disorder ISO RGD:1322492 D RGD:9068941 20200609 RGD PMID:22355535|REF_RGD_ID:11561947 9022810 Zic2 Zic family member 2 gene DOID:4621 holoprosencephaly ISO RGD:1322491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly PMID:25741868 9022810 Zic2 Zic family member 2 gene DOID:5419 schizophrenia ISO RGD:1322492 D RGD:9068941 20220825 MouseDO OMIM:181500 9022810 Zic2 Zic family member 2 gene DOID:630 genetic disease ISO RGD:1322491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15221788|PMID:15590697|PMID:19177455|PMID:25741868|PMID:25954003|PMID:27466203|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29992973|PMID:32022405 9022810 Zic2 Zic family member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9022810 Zic2 Zic family member 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048 9022810 Zic2 Zic family member 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1322491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9022810 Zic2 Zic family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19223503 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:731644 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:10763 hypertension ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:12236 primary biliary cholangitis ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:liver PMID:15769867|REF_RGD_ID:1642977 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:12930 dilated cardiomyopathy ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased activity:heart PMID:16043946|REF_RGD_ID:1643022 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:2018 hyperinsulinism ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased phosphorylation:liver, skeletal muscle PMID:15692808|REF_RGD_ID:1643026 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:219 colon cancer treatment ISO RGD:620683 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:5844 myocardial infarction ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:heart left ventricle PMID:16540832|REF_RGD_ID:1642998 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:630 genetic disease ISO RGD:731644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:767 muscular atrophy ISO RGD:620683 D RGD:9068941 20200609 RGD protein:decreased expression, decreased phosphorylation:soleus PMID:17885021|REF_RGD_ID:1642984 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:kidney PMID:16221708|REF_RGD_ID:1643017 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:9002513 Hypoproteinemia ISO RGD:620683 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:16169275|REF_RGD_ID:1643028 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:9003936 Cardiomegaly ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased threonine phosphorylation:heart left ventricle PMID:16540832|REF_RGD_ID:1642998 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:9004462 Atrophy ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391472 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:731644 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19289642 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:9007730 Burns ISO RGD:620683 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:heart PMID:14695116|REF_RGD_ID:1643025 9022823 Rps6kb1 ribosomal protein S6 kinase B1 gene DOID:9970 obesity ISO RGD:620683 D RGD:9068941 20200609 RGD protein:increased phosphorylation:skeletal muscle PMID:15604215|REF_RGD_ID:1642978 9022846 Ninj2 ninjurin 2 gene DOID:630 genetic disease ISO RGD:1352493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022846 Ninj2 ninjurin 2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1352493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9022864 Sema6d semaphorin 6D gene DOID:14323 Marfan syndrome ISO RGD:1605040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 9022864 Sema6d semaphorin 6D gene DOID:2717 Bloom syndrome ISO RGD:1605040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9022864 Sema6d semaphorin 6D gene DOID:303 substance-related disorder ISO RGD:1605040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9022864 Sema6d semaphorin 6D gene DOID:630 genetic disease ISO RGD:1605040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022864 Sema6d semaphorin 6D gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1605040 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9022864 Sema6d semaphorin 6D gene DOID:9256 colorectal cancer ISO RGD:1605040 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9022906 Ints9 integrator complex subunit 9 gene DOID:630 genetic disease ISO RGD:1603989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022945 Fkbp14 FKBP prolyl isomerase 14 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1323300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:22265013|PMID:24677762|PMID:25741868|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235 9022945 Fkbp14 FKBP prolyl isomerase 14 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1323300 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235|PMID:33587123|PMID:34504686|PMID:36054293|PMID:36553464 9022945 Fkbp14 FKBP prolyl isomerase 14 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1323300 D RGD:7240710 20180130 OMIM 9022945 Fkbp14 FKBP prolyl isomerase 14 gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:1323300 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:16199547|PMID:17576681|PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235|PMID:31428121|PMID:33587123|PMID:34504686|PMID:36054293|PMID:36553464|PMID:9536098 9022945 Fkbp14 FKBP prolyl isomerase 14 gene DOID:13359 Ehlers-Danlos syndrome ISO RGD:1323300 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31428121|PMID:33587123 9022945 Fkbp14 FKBP prolyl isomerase 14 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9022945 Fkbp14 FKBP prolyl isomerase 14 gene DOID:630 genetic disease ISO RGD:1323300 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235|PMID:31428121|PMID:33587123|PMID:34504686|PMID:36054293|PMID:36553464 9022945 Fkbp14 FKBP prolyl isomerase 14 gene DOID:9005077 Joint Instability ISO RGD:1323300 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235|PMID:33587123|PMID:34504686|PMID:36054293|PMID:36553464 9022945 Fkbp14 FKBP prolyl isomerase 14 gene DOID:9005603 Muscle Hypotonia ISO RGD:1323300 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: poor muscle tone PMID:22265013|PMID:24677762|PMID:25741868|PMID:26467025|PMID:27149304|PMID:27905128|PMID:28492532|PMID:28617417|PMID:30561154|PMID:31063316|PMID:31132235|PMID:33587123|PMID:34504686|PMID:36054293|PMID:36553464 9022957 Arhgap25 Rho GTPase activating protein 25 gene DOID:630 genetic disease ISO RGD:1351716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022984 Timm17a translocase of inner mitochondrial membrane 17A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:733790 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9022984 Timm17a translocase of inner mitochondrial membrane 17A gene DOID:1540 parathyroid carcinoma ISO RGD:733790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9022984 Timm17a translocase of inner mitochondrial membrane 17A gene DOID:630 genetic disease ISO RGD:733790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9022984 Timm17a translocase of inner mitochondrial membrane 17A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:733790 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9022984 Timm17a translocase of inner mitochondrial membrane 17A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733790 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9022999 Asb6 ankyrin repeat and SOCS box containing 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1318216 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9022999 Asb6 ankyrin repeat and SOCS box containing 6 gene DOID:630 genetic disease ISO RGD:1318216 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023022 Nsun6 NOP2/Sun RNA methyltransferase 6 gene DOID:0050700 cardiomyopathy ISO RGD:1344487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28166811|PMID:28492532 9023022 Nsun6 NOP2/Sun RNA methyltransferase 6 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1344487 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9023022 Nsun6 NOP2/Sun RNA methyltransferase 6 gene DOID:630 genetic disease ISO RGD:1344487 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023022 Nsun6 NOP2/Sun RNA methyltransferase 6 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 9023022 Nsun6 NOP2/Sun RNA methyltransferase 6 gene DOID:9008939 Breast Neoplasms ISO RGD:1344487 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28114269 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:734452 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:0060870 isolated growth hormone deficiency ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:0060874 isolated growth hormone deficiency type IB ISO RGD:734452 D RGD:7240710 20240228 OMIM 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:0060874 isolated growth hormone deficiency type IB ISO RGD:734452 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB PMID:10084571|PMID:10566659|PMID:10944436|PMID:10946881|PMID:11232012|PMID:11298081|PMID:11443201|PMID:11502843|PMID:11875102|PMID:12163232|PMID:12181638|PMID:12414875|PMID:12444890|PMID:12534354|PMID:12788864|PMID:12794696|PMID:15196883|PMID:16135671|PMID:16199547|PMID:16284391|PMID:16355809|PMID:16522693|PMID:17356054|PMID:17911170|PMID:18297129|PMID:18785993|PMID:19622623|PMID:21044116|PMID:22489751|PMID:23052699|PMID:25153028|PMID:25541890|PMID:25741868|PMID:27114065|PMID:28492532|PMID:29412390|PMID:31231873|PMID:33060564|PMID:8528260|PMID:9467553|PMID:9814493 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss PMID:28492532 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:1923 disorder of sexual development ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:734452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:535 sleep disorder ISO RGD:2688 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus (rat) PMID:12161265|REF_RGD_ID:728477 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:630 genetic disease ISO RGD:734452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:10645 D RGD:9068941 20200609 RGD DNA:transition:cds:p.D60G (mouse) PMID:15870705|REF_RGD_ID:2301422 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2688 D RGD:9068941 20200609 RGD PMID:18285528|REF_RGD_ID:10401258 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:9007827 Upper Airway Obstruction ISO RGD:2688 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:hypothalamus PMID:21406516|REF_RGD_ID:5687169 9023047 Ghrhr growth hormone releasing hormone receptor gene DOID:9008214 Genu Valgum ISO RGD:734452 D RGD:9068941 20200609 RGD DNA:mutation:intron:c.57+1G>A (human) PMID:24057284|REF_RGD_ID:10401244 9023070 Ube2s ubiquitin conjugating enzyme E2 S gene DOID:630 genetic disease ISO RGD:1343646 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023084 Aldoa aldolase, fructose-bisphosphate A gene DOID:0060019 coronin-1A deficiency ISO RGD:735815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:18836449|PMID:25073507|PMID:28492532 9023084 Aldoa aldolase, fructose-bisphosphate A gene DOID:0060041 autism spectrum disorder ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 9023084 Aldoa aldolase, fructose-bisphosphate A gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:735815 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 9023084 Aldoa aldolase, fructose-bisphosphate A gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:735815 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868 9023084 Aldoa aldolase, fructose-bisphosphate A gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:735815 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES PMID:25741868 9023084 Aldoa aldolase, fructose-bisphosphate A gene DOID:12849 autistic disorder ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9023084 Aldoa aldolase, fructose-bisphosphate A gene DOID:2634 cystadenoma ISO RGD:735815 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:19077459|REF_RGD_ID:2325696 9023084 Aldoa aldolase, fructose-bisphosphate A gene DOID:5419 schizophrenia ISO RGD:735815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9023084 Aldoa aldolase, fructose-bisphosphate A gene DOID:630 genetic disease ISO RGD:735815 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9023084 Aldoa aldolase, fructose-bisphosphate A gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:735815 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE XII | ClinVar Annotator: match by term: GSD XII | ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:14615364|PMID:17576681|PMID:25392908|PMID:25741868|PMID:2825199|PMID:28492532|PMID:33665120|PMID:8598869|PMID:9536098 9023084 Aldoa aldolase, fructose-bisphosphate A gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:10139 D RGD:9068941 20200609 RGD PMID:25637246|REF_RGD_ID:13673876 9023107 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0050144 Kartagener syndrome ISO RGD:1603185 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25192045|PMID:25224326|PMID:25741868|PMID:28492532 9023107 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 9023107 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9023107 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0110624 primary ciliary dyskinesia 30 ISO RGD:1603185 D RGD:7240710 20180130 OMIM 9023107 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0110624 primary ciliary dyskinesia 30 ISO RGD:1603185 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 PMID:16199547|PMID:17576681|PMID:24033266|PMID:25192045|PMID:25224326|PMID:25741868|PMID:28492532|PMID:31130284|PMID:31213628|PMID:32111882|PMID:9536098 9023107 Odad3 outer dynein arm docking complex subunit 3 gene DOID:0111254 glutaric acidemia I ISO RGD:1603185 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 9023107 Odad3 outer dynein arm docking complex subunit 3 gene DOID:3413 alpha-mannosidosis ISO RGD:1603185 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9023107 Odad3 outer dynein arm docking complex subunit 3 gene DOID:630 genetic disease ISO RGD:1603185 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25192045|PMID:25741868|PMID:28492532 9023107 Odad3 outer dynein arm docking complex subunit 3 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1603185 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 9023107 Odad3 outer dynein arm docking complex subunit 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1603185 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 9023126 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 9023126 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:0111940 immunodeficiency 42 ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9023126 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9023126 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603683 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9023126 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:1540 parathyroid carcinoma ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9023126 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:5812 MHC class II deficiency ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9023126 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:630 genetic disease ISO RGD:1603683 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023126 Smg5 SMG5 nonsense mediated mRNA decay factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603683 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9023168 Spry4 sprouty RTK signaling antagonist 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1313286 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9023168 Spry4 sprouty RTK signaling antagonist 4 gene DOID:0090070 hypogonadotropic hypogonadism ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 9023168 Spry4 sprouty RTK signaling antagonist 4 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1313286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9023168 Spry4 sprouty RTK signaling antagonist 4 gene DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia ISO RGD:1313286 D RGD:7240710 20180130 OMIM 9023168 Spry4 sprouty RTK signaling antagonist 4 gene DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia PMID:23643382|PMID:24033266|PMID:28492532|PMID:32870266 9023168 Spry4 sprouty RTK signaling antagonist 4 gene DOID:13938 amenorrhea ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:23643382|PMID:24033266|PMID:28492532|PMID:32870266 9023168 Spry4 sprouty RTK signaling antagonist 4 gene DOID:1921 Klinefelter syndrome ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism PMID:25741868 9023168 Spry4 sprouty RTK signaling antagonist 4 gene DOID:1923 disorder of sexual development ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 9023168 Spry4 sprouty RTK signaling antagonist 4 gene DOID:630 genetic disease ISO RGD:1313286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023168 Spry4 sprouty RTK signaling antagonist 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9023168 Spry4 sprouty RTK signaling antagonist 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1313286 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9023168 Spry4 sprouty RTK signaling antagonist 4 gene DOID:9119 acute myeloid leukemia ISO RGD:1313286 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25822087 9023177 Ankrd52 ankyrin repeat domain 52 gene DOID:630 genetic disease ISO RGD:1601705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023214 Rasa2 RAS p21 protein activator 2 gene DOID:0060578 Noonan syndrome 1 ISO RGD:735538 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 9023214 Rasa2 RAS p21 protein activator 2 gene DOID:1682 congenital heart disease ISO RGD:735538 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:28492532 9023214 Rasa2 RAS p21 protein activator 2 gene DOID:1909 melanoma ISO RGD:735538 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214590|PMID:26502337 9023214 Rasa2 RAS p21 protein activator 2 gene DOID:3490 Noonan syndrome ISO RGD:735538 D RGD:9068941 20221028 RGD DNA:missense mutations:exon:multiple (human) PMID:25049390|REF_RGD_ID:11096563 9023214 Rasa2 RAS p21 protein activator 2 gene DOID:630 genetic disease ISO RGD:735538 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:0050651 atrioventricular septal defect ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, somatic PMID:15342699|PMID:15917268 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:0050820 atrioventricular block ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.Y256X (c.768T>A) (human) PMID:16896344|REF_RGD_ID:12914775 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:0050822 second-degree atrioventricular block ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular block, idiopathic second-degree PMID:10587520 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:0060224 atrial fibrillation ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:29892015|PMID:30061737 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:0070125 congenital nongoitrous hypothyroidism 5 ISO RGD:1606841 D RGD:7240710 20180130 OMIM 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:0070125 congenital nongoitrous hypothyroidism 5 ISO RGD:1606841 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:23285148|PMID:23661673|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:0080334 aortic valve disease 2 ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:missense mutations: :p.Q22K, p.R36S, p.E54K (human) PMID:22179962|REF_RGD_ID:12914791 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:0080334 aortic valve disease 2 ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:nonsense mutation:exon:p.K192X (human) PMID:25438918|REF_RGD_ID:12914790 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1606841 D RGD:7240710 20180130 OMIM 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:0110112 atrial heart septal defect 7 ISO RGD:1606841 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects | ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:10587520|PMID:10903346|PMID:10943630|PMID:10948187|PMID:11714651|PMID:12074273|PMID:12112663|PMID:12414819|PMID:1260978|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15342699|PMID:15364612|PMID:15689439|PMID:15810002|PMID:15917268|PMID:16418214|PMID:16896344|PMID:17544441|PMID:17891434|PMID:17891520|PMID:18414213|PMID:18976153|PMID:19073351|PMID:19181906|PMID:19464101|PMID:19533775|PMID:19678963|PMID:19933292|PMID:19948535|PMID:20022124|PMID:20456451|PMID:20807224|PMID:20981092|PMID:21091212|PMID:21110066|PMID:21561848|PMID:21677783|PMID:22179962|PMID:22920929|PMID:22995991|PMID:23285148|PMID:23661673|PMID:24033266|PMID:24376681|PMID:24880466|PMID:25028484|PMID:25205790|PMID:25319568|PMID:25741868|PMID:25742962|PMID:26014430|PMID:26146939|PMID:26334177|PMID:26467025|PMID:26805889|PMID:27013732|PMID:27152669|PMID:27788187|PMID:27855642|PMID:27904570|PMID:28166811|PMID:28302382|PMID:28341588|PMID:28455095|PMID:28492532|PMID:28536625|PMID:28690296|PMID:29037160|PMID:29368431|PMID:29568389|PMID:29745128|PMID:30240412|PMID:30354339|PMID:30508507|PMID:30611920|PMID:30982828|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884|PMID:33082984|PMID:33142350|PMID:33835496|PMID:34214246|PMID:35328834|PMID:9651244 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:0112232 lissencephaly 3 ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation PMID:18414213|PMID:18976153|PMID:19181906|PMID:19464101|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24376681|PMID:25741868|PMID:28492532 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10587520|PMID:25741868|PMID:28492532 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:1657 ventricular septal defect ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:1657 ventricular septal defect ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.P59A (c.175C>G) (human) PMID:21165553|REF_RGD_ID:12914792 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:1681 heart septal defect ISO RGD:1606841 D RGD:9068941 20200609 RGD PMID:12112663|REF_RGD_ID:1581130 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital heart disease | ClinVar Annotator: match by term: Heart, malformation of | ClinVar Annotator: match by term: Malformation of the heart and great vessels PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:14607454|PMID:16418214|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19948535|PMID:20456451|PMID:20807224|PMID:22920929|PMID:24033266|PMID:25741868|PMID:28492532 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:1682 congenital heart disease no_association ISO RGD:1606841 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.A119S (human) PMID:23285148|REF_RGD_ID:7247738 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:1882 atrial heart septal defect ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:10587520|PMID:18414213|PMID:18976153|PMID:19181906|PMID:19464101|PMID:20981092|PMID:22995991|PMID:24033266|PMID:24376681|PMID:25741868|PMID:28492532 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:2843 long QT syndrome ISO RGD:1606841 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19948535|PMID:23285148|PMID:25742962|PMID:28492532|PMID:29037160|PMID:30611920 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:3770 pulmonary fibrosis ISO RGD:620520 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung, fibroblast PMID:19395679|REF_RGD_ID:5131637 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:450 myotonic disease ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084293 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:630 genetic disease ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10587520|PMID:11714651|PMID:15689439|PMID:22920929|PMID:25741868|PMID:28166811|PMID:28492532|PMID:34214246 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1606841 D RGD:7240710 20180130 OMIM 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:6419 tetralogy of Fallot ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:10587520|PMID:25741868|PMID:28492532 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:731878 D RGD:9068941 20200609 RGD PMID:11457872|REF_RGD_ID:12914774 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1606841 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:14607454|PMID:18414213|PMID:19181906|PMID:22179962|PMID:25741868|PMID:28492532|PMID:31824610|PMID:33835496 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9003006 Ventricular Septal Defect 3 ISO RGD:1606841 D RGD:7240710 20180130 OMIM 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9003006 Ventricular Septal Defect 3 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 3 PMID:10587520|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:17544441|PMID:18414213|PMID:19933292|PMID:20659440|PMID:21110066|PMID:21165553|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9003735 Splenic Hypoplasia ISO RGD:1606841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asplenia, isolated congenital PMID:20846672|PMID:22560297|PMID:23579497 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9003936 Cardiomegaly ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28973413 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9005839 Hypoplastic Left Heart Syndrome 2 ISO RGD:1606841 D RGD:7240710 20180130 OMIM 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9005839 Hypoplastic Left Heart Syndrome 2 ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 2 PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects ISO RGD:1606841 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:10587520|PMID:10903346|PMID:10943630|PMID:10948187|PMID:11714651|PMID:12074273|PMID:12112663|PMID:12414819|PMID:1260978|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15342699|PMID:15364612|PMID:15689439|PMID:15810002|PMID:15917268|PMID:16418214|PMID:16896344|PMID:17544441|PMID:17891434|PMID:17891520|PMID:18414213|PMID:18976153|PMID:19073351|PMID:19181906|PMID:19464101|PMID:19533775|PMID:19678963|PMID:19933292|PMID:19948535|PMID:20022124|PMID:20456451|PMID:20807224|PMID:20981092|PMID:21091212|PMID:21110066|PMID:21561848|PMID:21677783|PMID:22179962|PMID:22920929|PMID:22995991|PMID:23285148|PMID:23661673|PMID:24033266|PMID:24376681|PMID:24880466|PMID:25028484|PMID:25205790|PMID:25319568|PMID:25741868|PMID:25742962|PMID:26014430|PMID:26146939|PMID:26334177|PMID:26467025|PMID:26805889|PMID:27013732|PMID:27152669|PMID:27788187|PMID:27855642|PMID:27904570|PMID:28166811|PMID:28302382|PMID:28341588|PMID:28455095|PMID:28492532|PMID:28536625|PMID:28690296|PMID:29037160|PMID:29368431|PMID:29568389|PMID:29745128|PMID:30240412|PMID:30354339|PMID:30508507|PMID:30611920|PMID:30982828|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884|PMID:33082984|PMID:33142350|PMID:33835496|PMID:34214246|PMID:35328834|PMID:9651244 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9007096 Stroke ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:7240710 20180530 OMIM 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1606841 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis PMID:10587520|PMID:10903346|PMID:11714651|PMID:12074273|PMID:12798584|PMID:14607454|PMID:15161646|PMID:15810002|PMID:15917268|PMID:16418214|PMID:17544441|PMID:17891434|PMID:18414213|PMID:19073351|PMID:19464101|PMID:19533775|PMID:19933292|PMID:19948535|PMID:20456451|PMID:20807224|PMID:21110066|PMID:22920929|PMID:23661673|PMID:24033266|PMID:24376681|PMID:25741868|PMID:26805889|PMID:27152669|PMID:27904570|PMID:28166811|PMID:28492532|PMID:28536625|PMID:29368431|PMID:30508507|PMID:31824610|PMID:31983221|PMID:32369864|PMID:32425884|PMID:9651244 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9008306 Common Ventricle ISO RGD:1606841 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Single ventricle PMID:19948535|PMID:23285148|PMID:25742962|PMID:28492532|PMID:29037160|PMID:30611920 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:1606841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9023241 Nkx2-5 NK2 homeobox 5 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:731878 D RGD:9068941 20220825 MouseDO OMIM:241550 | OMIM:614435 9023252 Pigs phosphatidylinositol glycan anchor biosynthesis class S gene DOID:0070382 developmental and epileptic encephalopathy 95 ISO RGD:1354267 D RGD:7240710 20190315 OMIM 9023252 Pigs phosphatidylinositol glycan anchor biosynthesis class S gene DOID:0070382 developmental and epileptic encephalopathy 95 ISO RGD:1354267 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18 PMID:25741868|PMID:30269814|PMID:33410539 9023252 Pigs phosphatidylinositol glycan anchor biosynthesis class S gene DOID:630 genetic disease ISO RGD:1354267 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9023268 Hhipl2 HHIP like 2 gene DOID:0050439 Usher syndrome ISO RGD:1605638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 9023268 Hhipl2 HHIP like 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1605638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 9023268 Hhipl2 HHIP like 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1605638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9023268 Hhipl2 HHIP like 2 gene DOID:630 genetic disease ISO RGD:1605638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023268 Hhipl2 HHIP like 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605638 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9023279 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:0111944 immunodeficiency 31B ISO RGD:1318134 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 9023279 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:630 genetic disease ISO RGD:1318134 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093 9023279 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:700 mitochondrial metabolism disease ISO RGD:1318134 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 9023279 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:8398 osteoarthritis ISO RGD:1318134 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 9023279 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318134 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9023279 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:9008784 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency ISO RGD:1318134 D RGD:7240710 20180130 OMIM 9023279 Hibch 3-hydroxyisobutyryl-CoA hydrolase gene DOID:9008784 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency ISO RGD:1318134 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency | ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency PMID:16199547|PMID:17160907|PMID:17576681|PMID:24033266|PMID:24299452|PMID:25251209|PMID:25591832|PMID:25741868|PMID:26026795|PMID:26163321|PMID:27435318|PMID:27896122|PMID:28454995|PMID:28492532|PMID:29703962|PMID:30111474|PMID:32022391|PMID:32677093|PMID:33762937|PMID:7122152|PMID:9536098 9023297 Asah2 N-acylsphingosine amidohydrolase 2 gene DOID:10608 celiac disease ISO RGD:1605058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 9023297 Asah2 N-acylsphingosine amidohydrolase 2 gene DOID:11372 megacolon ISO RGD:1605058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9023297 Asah2 N-acylsphingosine amidohydrolase 2 gene DOID:409 liver disease ISO RGD:1605058 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15946935 9023297 Asah2 N-acylsphingosine amidohydrolase 2 gene DOID:630 genetic disease ISO RGD:1605058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023324 Rps19bp1 ribosomal protein S19 binding protein 1 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9023324 Rps19bp1 ribosomal protein S19 binding protein 1 gene DOID:630 genetic disease ISO RGD:1602664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023332 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:733365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24211274 9023332 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:733365 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9023332 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:733365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 9023332 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:70880 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:24127863|REF_RGD_ID:14390076 9023332 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:733365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9023332 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:630 genetic disease ISO RGD:733365 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023332 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733365 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9023332 B3gat1 beta-1,3-glucuronyltransferase 1 gene DOID:9005539 Familial Prostate Cancer ISO RGD:733365 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 9023358 Slc15a2 solute carrier family 15 member 2 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:731699 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 9023358 Slc15a2 solute carrier family 15 member 2 gene DOID:1909 melanoma ISO RGD:731699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 9023358 Slc15a2 solute carrier family 15 member 2 gene DOID:3910 lung adenocarcinoma ISO RGD:731699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9023358 Slc15a2 solute carrier family 15 member 2 gene DOID:630 genetic disease ISO RGD:731699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023358 Slc15a2 solute carrier family 15 member 2 gene DOID:9006205 Animal Disease Models ISO RGD:731699 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9023358 Slc15a2 solute carrier family 15 member 2 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:731699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 9023358 Slc15a2 solute carrier family 15 member 2 gene DOID:9270 alkaptonuria ISO RGD:731699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9023388 Cdc42ep3 CDC42 effector protein 3 gene DOID:0080690 RASopathy ISO RGD:1314141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9023388 Cdc42ep3 CDC42 effector protein 3 gene DOID:630 genetic disease ISO RGD:1314141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1603660 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:16380913|PMID:20177705|PMID:23757202|PMID:25741868|PMID:28492532 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:0110131 Bardet-Biedl syndrome 9 ISO RGD:1603660 D RGD:7240710 20180130 OMIM 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:0110131 Bardet-Biedl syndrome 9 ISO RGD:1603660 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BBS9-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 | ClinVar Annotator: match by term: Retinal vascular dystrophy PMID:16199547|PMID:16380913|PMID:17576681|PMID:20177705|PMID:21209035|PMID:22353939|PMID:23160099|PMID:23757202|PMID:24746959|PMID:24849935|PMID:25741868|PMID:26518167|PMID:26766544|PMID:27486776|PMID:27708425|PMID:28492532|PMID:29096039|PMID:29970488|PMID:30614526|PMID:30718709|PMID:30773290|PMID:31054281|PMID:31456290|PMID:31488071|PMID:31736247|PMID:31888296|PMID:32165602|PMID:32686083|PMID:33138063|PMID:33777945|PMID:33964006|PMID:9536098 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:10584 retinitis pigmentosa ISO RGD:1603660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:30718709 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:1059 intellectual disability ISO RGD:1603660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603660 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16199547|PMID:16380913|PMID:17576681|PMID:20177705|PMID:21209035|PMID:23160099|PMID:23757202|PMID:24746959|PMID:24849935|PMID:25640679|PMID:25741868|PMID:26355662|PMID:27708425|PMID:28492532|PMID:29096039|PMID:29970488|PMID:30614526|PMID:30718709|PMID:31054281|PMID:31456290|PMID:31488071|PMID:31888296|PMID:32686083|PMID:33138063|PMID:33616283|PMID:33964006|PMID:9536098 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:2340 craniosynostosis ISO RGD:1603660 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23160099 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:2340 craniosynostosis susceptibility ISO RGD:1603660 D RGD:9068941 20200609 RGD DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human) PMID:23160099|REF_RGD_ID:9684995 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:5419 schizophrenia ISO RGD:1603660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:5426 primary ovarian insufficiency susceptibility ISO RGD:1603660 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes: : PMID:18349106|REF_RGD_ID:9684994 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:630 genetic disease ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31888296 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:8501 fundus dystrophy ISO RGD:1603660 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16380913|PMID:20177705|PMID:25741868|PMID:28492532 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9023398 Bbs9 Bardet-Biedl syndrome 9 gene DOID:9008296 Eye Abnormalities ISO RGD:1603660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:16380913|PMID:20177705|PMID:24746959|PMID:25741868|PMID:27708425|PMID:28492532 9023420 Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1346725 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 9023420 Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:5419 schizophrenia ISO RGD:1346725 D RGD:9068941 20200609 RGD DNA:snp:intron:c.2627T>C rs1356787 (human) PMID:19850283|REF_RGD_ID:5135429 9023420 Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:630 genetic disease ISO RGD:1346725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023420 Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:9000051 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY ISO RGD:1346725 D RGD:7240710 20220713 OMIM 9023420 Paics phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase gene DOID:9000051 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY ISO RGD:1346725 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Phosphoribosylaminoimidazole carboxylase deficiency PMID:31600779 9023434 Tsbp1 testis expressed basic protein 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1346663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9023470 Lyrm4 LYR motif containing 4 gene DOID:0110822 hereditary spastic paraplegia 77 ISO RGD:1345825 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive PMID:25741868 9023470 Lyrm4 LYR motif containing 4 gene DOID:0111476 combined oxidative phosphorylation deficiency 19 ISO RGD:1345825 D RGD:7240710 20180130 OMIM 9023470 Lyrm4 LYR motif containing 4 gene DOID:0111476 combined oxidative phosphorylation deficiency 19 ISO RGD:1345825 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 PMID:23814038|PMID:25741868|PMID:28492532 9023470 Lyrm4 LYR motif containing 4 gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1345825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:22833457|PMID:24161539|PMID:25741868|PMID:28492532|PMID:32007496 9023470 Lyrm4 LYR motif containing 4 gene DOID:630 genetic disease ISO RGD:1345825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023479 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:0050563 nonsyndromic deafness ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:23541342|PMID:28492532|PMID:30311386|PMID:30737337 9023479 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:0050857 Perrault syndrome ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:23541342|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26537577|PMID:26970254|PMID:27650058|PMID:28492532|PMID:28832386|PMID:29205794|PMID:30311386|PMID:30737337|PMID:32747562|PMID:32767731|PMID:34997062 9023479 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:5426 primary ovarian insufficiency ISO RGD:1318191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9023479 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23541342|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30831263 9023479 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:699 mitochondrial myopathy ISO RGD:1318191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:24033266|PMID:25741868|PMID:26467025|PMID:28430790|PMID:28492532|PMID:32442335 9023479 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9002027 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA ISO RGD:1318191 D RGD:7240710 20190315 OMIM 9023479 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9002027 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia PMID:23541342|PMID:24033266|PMID:25741868|PMID:26537577|PMID:26970254|PMID:28000701|PMID:28492532|PMID:28832386|PMID:30737337|PMID:32442335|PMID:32747562 9023479 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1318191 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 9023479 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9004726 Perrault Syndrome 4 ISO RGD:1318191 D RGD:7240710 20180130 OMIM 9023479 Lars2 leucyl-tRNA synthetase 2, mitochondrial gene DOID:9004726 Perrault Syndrome 4 ISO RGD:1318191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Perrault syndrome 4 PMID:23541342|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26537577|PMID:26657938|PMID:26970254|PMID:28000701|PMID:28492532|PMID:28708303|PMID:28832386|PMID:29205794|PMID:30311386|PMID:30737337|PMID:32399598|PMID:32442335|PMID:32747562 9023503 Pkdrej polycystin family receptor for egg jelly gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1315287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9023503 Pkdrej polycystin family receptor for egg jelly gene DOID:1059 intellectual disability ISO RGD:1315287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9023503 Pkdrej polycystin family receptor for egg jelly gene DOID:630 genetic disease ISO RGD:1315287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023519 LOC102010505 olfactory receptor 5A1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1354277 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9023519 LOC102010505 olfactory receptor 5A1 gene DOID:1059 intellectual disability ISO RGD:1354277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9023519 LOC102010505 olfactory receptor 5A1 gene DOID:630 genetic disease ISO RGD:1354277 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023522 Pgpep1 pyroglutamyl-peptidase I gene DOID:10283 prostate cancer ISO RGD:1348411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9023522 Pgpep1 pyroglutamyl-peptidase I gene DOID:630 genetic disease ISO RGD:1348411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023522 Pgpep1 pyroglutamyl-peptidase I gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1348411 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 9023560 Omp olfactory marker protein gene DOID:1059 intellectual disability ISO RGD:734264 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9023560 Omp olfactory marker protein gene DOID:630 genetic disease ISO RGD:734264 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023565 Gemin6 gem nuclear organelle associated protein 6 gene DOID:0080690 RASopathy ISO RGD:1322484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9023565 Gemin6 gem nuclear organelle associated protein 6 gene DOID:3883 Lynch syndrome ISO RGD:1322484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 9023565 Gemin6 gem nuclear organelle associated protein 6 gene DOID:630 genetic disease ISO RGD:1322484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023590 Aamp angio associated migratory cell protein gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 9023590 Aamp angio associated migratory cell protein gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 9023590 Aamp angio associated migratory cell protein gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 9023590 Aamp angio associated migratory cell protein gene DOID:630 genetic disease ISO RGD:1607091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023590 Aamp angio associated migratory cell protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1607091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9023614 Nop53 NOP53 ribosome biogenesis factor gene DOID:11612 polycystic ovary syndrome ISO RGD:1353107 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9023614 Nop53 NOP53 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1353107 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023633 Rplp0 ribosomal protein lateral stalk subunit P0 gene DOID:14250 Down syndrome ISO RGD:621247 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:25261685|REF_RGD_ID:11039463 9023633 Rplp0 ribosomal protein lateral stalk subunit P0 gene DOID:630 genetic disease ISO RGD:1344368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023658 Tmem95 transmembrane protein 95 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603857 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9023658 Tmem95 transmembrane protein 95 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1603857 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 9023658 Tmem95 transmembrane protein 95 gene DOID:1059 intellectual disability ISO RGD:1603857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9023658 Tmem95 transmembrane protein 95 gene DOID:12177 common variable immunodeficiency ISO RGD:1603857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9023658 Tmem95 transmembrane protein 95 gene DOID:2729 dyskeratosis congenita ISO RGD:1603857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9023658 Tmem95 transmembrane protein 95 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603857 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 9023658 Tmem95 transmembrane protein 95 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1603857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 9023658 Tmem95 transmembrane protein 95 gene DOID:630 genetic disease ISO RGD:1603857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023679 Rab21 RAB21, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1350890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023679 Rab21 RAB21, member RAS oncogene family gene DOID:9970 obesity ISO RGD:1350890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 9023689 Adamtsl2 ADAMTS like 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 9023689 Adamtsl2 ADAMTS like 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9023689 Adamtsl2 ADAMTS like 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1343515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9023689 Adamtsl2 ADAMTS like 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 9023689 Adamtsl2 ADAMTS like 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 9023689 Adamtsl2 ADAMTS like 2 gene DOID:0111243 acromicric dysplasia ISO RGD:1343515 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Geleophysic dwarfism PMID:24014090|PMID:25741868|PMID:26879370|PMID:33369194 9023689 Adamtsl2 ADAMTS like 2 gene DOID:0111724 geleophysic dysplasia ISO RGD:1343515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 9023689 Adamtsl2 ADAMTS like 2 gene DOID:0111725 geleophysic dysplasia 1 ISO RGD:1343515 D RGD:7240710 20180130 OMIM 9023689 Adamtsl2 ADAMTS like 2 gene DOID:0111725 geleophysic dysplasia 1 ISO RGD:1343515 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: Geleophysic dysplasia 1 PMID:18677313|PMID:20301776|PMID:21415077|PMID:24014090|PMID:25741868|PMID:26879370|PMID:28492532|PMID:30174453|PMID:30195254|PMID:33369194 9023689 Adamtsl2 ADAMTS like 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1343515 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 9023689 Adamtsl2 ADAMTS like 2 gene DOID:2256 osteochondrodysplasia ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 9023689 Adamtsl2 ADAMTS like 2 gene DOID:3652 Leigh disease ISO RGD:1343515 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9023689 Adamtsl2 ADAMTS like 2 gene DOID:4079 heart valve disease ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 9023689 Adamtsl2 ADAMTS like 2 gene DOID:630 genetic disease ISO RGD:1343515 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9023689 Adamtsl2 ADAMTS like 2 gene DOID:655 inherited metabolic disorder ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 9023689 Adamtsl2 ADAMTS like 2 gene DOID:9001487 Facies ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 9023689 Adamtsl2 ADAMTS like 2 gene DOID:9003299 Short Limb Dwarfism Al Gazali Type ISO RGD:1343515 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Lethal short-limb skeletal dysplasia, Al Gazali type PMID:18677313|PMID:20301776|PMID:24251637|PMID:25741868|PMID:30195254 9023689 Adamtsl2 ADAMTS like 2 gene DOID:9004585 GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES ISO RGD:12117271 D RGD:9068941 20220630 OMIA Geleophysic dysplasia, ADMATSL2-related PMID:20862248|PMID:28158899 9023689 Adamtsl2 ADAMTS like 2 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 9023689 Adamtsl2 ADAMTS like 2 gene DOID:9005369 Hepatomegaly ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 9023689 Adamtsl2 ADAMTS like 2 gene DOID:9006257 Growth Disorders ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 9023689 Adamtsl2 ADAMTS like 2 gene DOID:9006836 Contracture ISO RGD:1343515 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 9023713 Znf34 zinc finger protein 34 gene DOID:630 genetic disease ISO RGD:1343773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023727 Dcakd dephospho-CoA kinase domain containing gene DOID:630 genetic disease ISO RGD:1602678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023768 Ldhd lactate dehydrogenase D gene DOID:2565 macular corneal dystrophy ISO RGD:1317689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy PMID:11017086|PMID:14609920|PMID:14735064|PMID:28492532 9023768 Ldhd lactate dehydrogenase D gene DOID:607 paraplegia ISO RGD:1317689 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 9023768 Ldhd lactate dehydrogenase D gene DOID:630 genetic disease ISO RGD:1317689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023768 Ldhd lactate dehydrogenase D gene DOID:9000506 Lactate Dehydrogenase Deficiency ISO RGD:1317689 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Abnormal lactate dehydrogenase level PMID:25741868|PMID:30931947|PMID:832430 9023768 Ldhd lactate dehydrogenase D gene DOID:9000653 Lactic Aciduria due to D-Lactic Acid ISO RGD:1317689 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lactic aciduria due to D-lactic acid PMID:25741868|PMID:30931947|PMID:31638601|PMID:832430 9023768 Ldhd lactate dehydrogenase D gene DOID:9000653 Lactic Aciduria due to D-Lactic Acid susceptibility ISO RGD:1317689 D RGD:7240710 20200520 OMIM 9023783 Serpinb5 serpin family B member 5 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:69089 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 9023783 Serpinb5 serpin family B member 5 gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:69089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 9023783 Serpinb5 serpin family B member 5 gene DOID:3008 invasive ductal carcinoma ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19944674 9023783 Serpinb5 serpin family B member 5 gene DOID:630 genetic disease ISO RGD:69089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023783 Serpinb5 serpin family B member 5 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:69089 D RGD:9068941 20200609 RGD associated with hepatitis B; PMID:26296971|REF_RGD_ID:11520929 9023783 Serpinb5 serpin family B member 5 gene DOID:9000058 Keloid ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 9023783 Serpinb5 serpin family B member 5 gene DOID:9000965 Neoplasm Metastasis ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19514085 9023783 Serpinb5 serpin family B member 5 gene DOID:9002928 Colonic Neoplasms ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 9023783 Serpinb5 serpin family B member 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16331619 9023783 Serpinb5 serpin family B member 5 gene DOID:9008939 Breast Neoplasms ISO RGD:69089 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799634 9023794 Xxylt1 xyloside xylosyltransferase 1 gene DOID:0060224 atrial fibrillation ISO RGD:1345440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 9023794 Xxylt1 xyloside xylosyltransferase 1 gene DOID:0080600 COVID-19 ISO RGD:1345440 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9023794 Xxylt1 xyloside xylosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1345440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023803 Pkp2 plakophilin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22036071|PMID:22085907|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23973953|PMID:24033266|PMID:24055113|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24704780|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25979592|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26850880|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28611399|PMID:28705875|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29288195|PMID:29582136|PMID:29802319|PMID:29940860|PMID:29997227|PMID:30161220|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30677492|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:32183154|PMID:32372669|PMID:32522011|PMID:32600061|PMID:33087929|PMID:33232181|PMID:35535697 9023803 Pkp2 plakophilin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1315204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22036071|PMID:22085907|PMID:22177269|PMID:22214898|PMID:22458570|PMID:22781308|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24704780|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25611685|PMID:25616645|PMID:25637381|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25979592|PMID:26138720|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26850880|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27572111|PMID:27650965|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28166282|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28523642|PMID:28588093|PMID:28611399|PMID:28705875|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29288195|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29940860|PMID:29997227|PMID:30161220|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30677492|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:32183154|PMID:32268277|PMID:32372669|PMID:32522011|PMID:32553227|PMID:32600061|PMID:32659924|PMID:32916635|PMID:33087929|PMID:33232181|PMID:33238575|PMID:34120153|PMID:34135346|PMID:34191271|PMID:34469894|PMID:35535697|PMID:35579515|PMID:35655036|PMID:35819174|PMID:36225810|PMID:9536098 9023803 Pkp2 plakophilin 2 gene DOID:0050451 Brugada syndrome ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:20400443|PMID:20857253|PMID:21378009|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:29288195|PMID:33919104 9023803 Pkp2 plakophilin 2 gene DOID:0050638 transthyretin amyloidosis ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 9023803 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29497013|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31402444|PMID:31539150|PMID:31568572|PMID:32906206|PMID:9536098 9023803 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:9536098 9023803 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098 9023803 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098 9023803 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:27000522|PMID:27005929|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27711072|PMID:27727376|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28431057|PMID:28471438|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29178656|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29540472|PMID:29582136|PMID:29802319|PMID:29961461|PMID:29997227|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33919104|PMID:35535697|PMID:9536098 9023803 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29497013|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29961461|PMID:29997227|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33232181|PMID:33500567|PMID:33919104|PMID:34008892|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34816084|PMID:35535697|PMID:9536098 9023803 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27854218|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29961461|PMID:29997227|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33179747|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34816084|PMID:35535697|PMID:35655036|PMID:35932045|PMID:9536098 9023803 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29288195|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29961461|PMID:29997227|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30847666|PMID:31156706|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32522011|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33029862|PMID:33087929|PMID:33179747|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34426522|PMID:34469894|PMID:34486814|PMID:34816084|PMID:35535697|PMID:35655036|PMID:35932045|PMID:9536098 9023803 Pkp2 plakophilin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1315204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11790773|PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20400443|PMID:20525856|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22781308|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23465095|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25326635|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25616645|PMID:25637381|PMID:25650408|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26743238|PMID:26850880|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27122407|PMID:27153395|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28045975|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28523642|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28767663|PMID:28807990|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29253866|PMID:29288195|PMID:29386531|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29940860|PMID:29961461|PMID:29997227|PMID:30161220|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30830208|PMID:30847666|PMID:31064352|PMID:31156706|PMID:31189615|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32268277|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32508047|PMID:32522011|PMID:32553227|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32906206|PMID:32916635|PMID:33029862|PMID:33087929|PMID:33179747|PMID:33207704|PMID:33232181|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104|PMID:34008892|PMID:34120153|PMID:34135346|PMID:34191271|PMID:34317382|PMID:34426522|PMID:34469894|PMID:34486814|PMID:34816084|PMID:34924461|PMID:35535697|PMID:35579515|PMID:35655036|PMID:35712781|PMID:35766183|PMID:35819174|PMID:35932045|PMID:36138163|PMID:36178741|PMID:36225810|PMID:37477868|PMID:9536098 9023803 Pkp2 plakophilin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1315204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 9023803 Pkp2 plakophilin 2 gene DOID:0060480 left ventricular noncompaction ISO RGD:1315204 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:21636032|PMID:22214898|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29192238 9023803 Pkp2 plakophilin 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28341588|PMID:28492532|PMID:31539150 9023803 Pkp2 plakophilin 2 gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1315204 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 9023803 Pkp2 plakophilin 2 gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:19863551|PMID:24704780|PMID:25741868|PMID:28492532 9023803 Pkp2 plakophilin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1315204 D RGD:7240710 20180130 OMIM 9023803 Pkp2 plakophilin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1315204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:11790773|PMID:15489853|PMID:16101641|PMID:16199547|PMID:16415378|PMID:16549640|PMID:16567567|PMID:16774985|PMID:16799251|PMID:16893920|PMID:17010805|PMID:17041889|PMID:17363426|PMID:17372169|PMID:17521752|PMID:17556197|PMID:17576681|PMID:17908752|PMID:18382419|PMID:18554203|PMID:18662195|PMID:19084810|PMID:19095136|PMID:19279339|PMID:19302745|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19569224|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20129281|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20525856|PMID:20573160|PMID:20603720|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:20890277|PMID:21062920|PMID:21301620|PMID:21378009|PMID:21397041|PMID:21606390|PMID:21606396|PMID:2163603|PMID:21636032|PMID:21723241|PMID:21822014|PMID:21859740|PMID:22019812|PMID:22035158|PMID:22036071|PMID:22085907|PMID:22170284|PMID:22177269|PMID:22214898|PMID:22458570|PMID:22781308|PMID:22798562|PMID:22889254|PMID:23085127|PMID:23137101|PMID:23178689|PMID:23183494|PMID:23270881|PMID:23299917|PMID:23347029|PMID:23354045|PMID:23396983|PMID:23465095|PMID:23486541|PMID:23514727|PMID:23671136|PMID:23810883|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:23962865|PMID:23973953|PMID:24033266|PMID:24055113|PMID:24070718|PMID:2412583|PMID:24125834|PMID:24200904|PMID:24200905|PMID:24352520|PMID:24503780|PMID:24558114|PMID:24585727|PMID:24618965|PMID:24632794|PMID:24704780|PMID:24768880|PMID:24784157|PMID:24832006|PMID:24967631|PMID:24981977|PMID:25087486|PMID:25157032|PMID:25163546|PMID:25196244|PMID:25326635|PMID:25332820|PMID:25351510|PMID:25395996|PMID:25445213|PMID:25447171|PMID:25525159|PMID:25611685|PMID:25616645|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25667661|PMID:25676813|PMID:25741868|PMID:25741869|PMID:25765472|PMID:25820315|PMID:25825243|PMID:25825460|PMID:25857910|PMID:25971409|PMID:25979592|PMID:25998140|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26314686|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26656175|PMID:26676851|PMID:26701096|PMID:26743238|PMID:26850880|PMID:26887364|PMID:27000522|PMID:27005929|PMID:27030002|PMID:27066507|PMID:27085656|PMID:27114410|PMID:27122407|PMID:27153395|PMID:27194543|PMID:27335691|PMID:27532257|PMID:27650965|PMID:27697855|PMID:27711072|PMID:27727376|PMID:27831900|PMID:27930701|PMID:28045975|PMID:28069705|PMID:28074886|PMID:28097316|PMID:28166282|PMID:28166811|PMID:28177452|PMID:28253841|PMID:28255936|PMID:28301460|PMID:28341588|PMID:28359509|PMID:28416588|PMID:28431057|PMID:28471438|PMID:28472724|PMID:28492532|PMID:28518168|PMID:28523642|PMID:28588093|PMID:28600387|PMID:28611399|PMID:28705875|PMID:28750076|PMID:28767663|PMID:28807990|PMID:29038103|PMID:29099038|PMID:29128982|PMID:29172153|PMID:29178656|PMID:29192238|PMID:29221435|PMID:29247119|PMID:29253866|PMID:29288195|PMID:29343803|PMID:29386531|PMID:29456632|PMID:29497013|PMID:29511324|PMID:29540472|PMID:29582136|PMID:29606362|PMID:29802319|PMID:29915097|PMID:29940860|PMID:29961461|PMID:29997227|PMID:30161220|PMID:30260051|PMID:30279520|PMID:30354609|PMID:30385303|PMID:30445427|PMID:30471092|PMID:30562116|PMID:30571190|PMID:30615648|PMID:30656044|PMID:30662450|PMID:30677492|PMID:30678776|PMID:30685992|PMID:30700137|PMID:30763825|PMID:30764827|PMID:30765282|PMID:30790397|PMID:30821013|PMID:30830208|PMID:30847666|PMID:30985088|PMID:31064352|PMID:31156706|PMID:31189615|PMID:31319917|PMID:31333075|PMID:31386562|PMID:31402444|PMID:31447099|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31638835|PMID:31702781|PMID:31737537|PMID:31983221|PMID:32183154|PMID:32268277|PMID:32372669|PMID:32397162|PMID:32443836|PMID:32508047|PMID:32522011|PMID:32553227|PMID:32600061|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32906206|PMID:32916635|PMID:33029862|PMID:33087929|PMID:33179747|PMID:33207704|PMID:33232181|PMID:33238575|PMID:33500567|PMID:33552729|PMID:33652588|PMID:33919104 9023803 Pkp2 plakophilin 2 gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1315204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:34008892|PMID:34120153|PMID:34135346|PMID:34191271|PMID:34317382|PMID:34426522|PMID:34469894|PMID:34486814|PMID:34540771|PMID:34816084|PMID:34924461|PMID:35535697|PMID:35579515|PMID:35653365|PMID:35655036|PMID:35712781|PMID:35766183|PMID:35819174|PMID:35932045|PMID:36138163|PMID:36178741|PMID:36225810|PMID:36578016|PMID:37477868|PMID:9536098 9023803 Pkp2 plakophilin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28166811|PMID:28341588|PMID:28492532|PMID:31539150 9023803 Pkp2 plakophilin 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1315204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20857253|PMID:21062920|PMID:21606390|PMID:22170284|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24352520|PMID:25395996|PMID:25741868|PMID:26676851|PMID:27085656|PMID:27711072|PMID:28341588|PMID:28492532|PMID:31539150 9023803 Pkp2 plakophilin 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 9023803 Pkp2 plakophilin 2 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 9023803 Pkp2 plakophilin 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 9023803 Pkp2 plakophilin 2 gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868 9023803 Pkp2 plakophilin 2 gene DOID:0110461 X-linked dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 9023803 Pkp2 plakophilin 2 gene DOID:11723 Duchenne muscular dystrophy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 9023803 Pkp2 plakophilin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16567567|PMID:17556197|PMID:19863551|PMID:19955750|PMID:20525856|PMID:20716751|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24352520|PMID:25163546|PMID:25637381|PMID:25741868|PMID:26498160|PMID:28301460|PMID:28492532|PMID:29802319|PMID:30445427 9023803 Pkp2 plakophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20400443|PMID:21378009|PMID:2163603|PMID:21636032|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:26220970|PMID:26743238|PMID:27066507|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28492532|PMID:28750076|PMID:31333075|PMID:31568572|PMID:32906206|PMID:33919104 9023803 Pkp2 plakophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20400443|PMID:21378009|PMID:2163603|PMID:21636032|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:26220970|PMID:26743238|PMID:27066507|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28492532|PMID:28750076|PMID:31333075|PMID:31568572|PMID:32906206|PMID:33552729|PMID:33919104|PMID:35932045 9023803 Pkp2 plakophilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1315204 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20400443|PMID:21378009|PMID:2163603|PMID:21636032|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:26220970|PMID:26743238|PMID:27066507|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28492532|PMID:28750076|PMID:31333075|PMID:31568572|PMID:32906206|PMID:33552729|PMID:33919104|PMID:35932045|PMID:36178741 9023803 Pkp2 plakophilin 2 gene DOID:2843 long QT syndrome ISO RGD:1315204 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16567567|PMID:17521752|PMID:18662195|PMID:19533476|PMID:19569224|PMID:19955750|PMID:20129281|PMID:20400443|PMID:20829228|PMID:20857253|PMID:21397041|PMID:21606390|PMID:21636032|PMID:21859740|PMID:23137101|PMID:23299917|PMID:23810883|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24352520|PMID:24618965|PMID:24704780|PMID:24832006|PMID:25351510|PMID:25637381|PMID:25676813|PMID:25741868|PMID:26138720|PMID:26332594|PMID:26656175|PMID:26743238|PMID:27650965|PMID:27930701|PMID:28166282|PMID:28341588|PMID:28492532|PMID:29288195|PMID:29582136|PMID:30615648 9023803 Pkp2 plakophilin 2 gene DOID:630 genetic disease ISO RGD:1315204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9023803 Pkp2 plakophilin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1315204 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15489853|PMID:16549640|PMID:16567567|PMID:17010805|PMID:17041889|PMID:19084810|PMID:19955750|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20829228|PMID:20857253|PMID:21301620|PMID:21606396|PMID:21723241|PMID:22177269|PMID:23178689|PMID:23354045|PMID:23810883|PMID:23871674|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24070718|PMID:24585727|PMID:24704780|PMID:24768880|PMID:25741868|PMID:25765472|PMID:25820315|PMID:25971409|PMID:27532257|PMID:28097316|PMID:28341588|PMID:28492532|PMID:28588093|PMID:29221435|PMID:30562116|PMID:31386562 9023803 Pkp2 plakophilin 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 9023803 Pkp2 plakophilin 2 gene DOID:9000299 cardiac amyloidosis ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 9023803 Pkp2 plakophilin 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1315204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:15489853|PMID:25741868|PMID:28492532|PMID:34540771 9023803 Pkp2 plakophilin 2 gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:25351510|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666 9023803 Pkp2 plakophilin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1315204 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:17010805|PMID:20400443|PMID:23183494|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26230511|PMID:27085656|PMID:28492532|PMID:29172153|PMID:29192238|PMID:29288195|PMID:30821013|PMID:33029862 9023803 Pkp2 plakophilin 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:20400443|PMID:20857253|PMID:21378009|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:29288195|PMID:33919104 9023803 Pkp2 plakophilin 2 gene DOID:9003163 Heart Block ISO RGD:1315204 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:17010805|PMID:20400443|PMID:23183494|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25351510|PMID:25741868|PMID:26230511|PMID:27085656|PMID:28492532|PMID:29172153|PMID:29192238|PMID:29288195|PMID:30821013|PMID:33029862 9023803 Pkp2 plakophilin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1315204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:15489853|PMID:16101641|PMID:16549640|PMID:16774985|PMID:16893920|PMID:17010805|PMID:17521752|PMID:18382419|PMID:19279339|PMID:19358943|PMID:19427443|PMID:19533476|PMID:19863551|PMID:19880068|PMID:19955750|PMID:20031617|PMID:20152563|PMID:20400443|PMID:20857253|PMID:21606396|PMID:21636032|PMID:21859740|PMID:22781308|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:24033266|PMID:24503780|PMID:24585727|PMID:25163546|PMID:25637381|PMID:25741868|PMID:25825243|PMID:25979592|PMID:26743238|PMID:27153395|PMID:28255936|PMID:28492532|PMID:29099038|PMID:29247119|PMID:29802319|PMID:29997227|PMID:30656044|PMID:30764827|PMID:30790397 9023803 Pkp2 plakophilin 2 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:20857253|PMID:21606390|PMID:21636032|PMID:23137101|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24200904|PMID:24704780|PMID:25741868|PMID:28492532|PMID:29288195 9023803 Pkp2 plakophilin 2 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1315204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 9023803 Pkp2 plakophilin 2 gene DOID:9007820 Sudden Death ISO RGD:1315204 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:15489853|PMID:17010805|PMID:20400443|PMID:23183494|PMID:23911551|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30571190|PMID:30677492|PMID:30678776|PMID:30700137|PMID:30790397|PMID:34135346 9023803 Pkp2 plakophilin 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1315204 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:27532257|PMID:28492532|PMID:29802319|PMID:31402444 9023803 Pkp2 plakophilin 2 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:1315204 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868|PMID:28492532 9023803 Pkp2 plakophilin 2 gene DOID:9883 Becker muscular dystrophy ISO RGD:1315204 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:20400443|PMID:21378009|PMID:23861362|PMID:24033266|PMID:25650408|PMID:25676813|PMID:25741868|PMID:27930701|PMID:28166282|PMID:28492532|PMID:33919104 9023820 Cnot2 CCR4-NOT transcription complex subunit 2 gene DOID:630 genetic disease ISO RGD:1323253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023820 Cnot2 CCR4-NOT transcription complex subunit 2 gene DOID:9003704 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies ISO RGD:1323253 D RGD:7240710 20191113 OMIM 9023820 Cnot2 CCR4-NOT transcription complex subunit 2 gene DOID:9003704 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies ISO RGD:1323253 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies PMID:25741868|PMID:31145527|PMID:31512373 9023820 Cnot2 CCR4-NOT transcription complex subunit 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9023850 Fam98a family with sequence similarity 98 member A gene DOID:630 genetic disease ISO RGD:1603675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023862 Scg5 secretogranin V gene DOID:0050902 medulloblastoma ISO RGD:731406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17334394 9023862 Scg5 secretogranin V gene DOID:0111684 hereditary mixed polyposis syndrome ISO RGD:731406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome PMID:25741868 9023862 Scg5 secretogranin V gene DOID:0111685 hereditary mixed polyposis syndrome 1 ISO RGD:731406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 PMID:22561515 9023862 Scg5 secretogranin V gene DOID:2717 Bloom syndrome ISO RGD:731406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9023862 Scg5 secretogranin V gene DOID:3946 pituitary-dependent Cushing's disease ISO RGD:731407 D RGD:9068941 20220825 MouseDO 9023862 Scg5 secretogranin V gene DOID:630 genetic disease ISO RGD:731406 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023862 Scg5 secretogranin V gene DOID:9008443 Colorectal Neoplasms ISO RGD:731406 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084292 9023862 Scg5 secretogranin V gene DOID:9256 colorectal cancer ISO RGD:731406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532|PMID:29804199 9023862 Scg5 secretogranin V gene DOID:9256 colorectal cancer ISO RGD:731406 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:26947005|PMID:28492532|PMID:29804199 9023876 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1313439 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:16199547|PMID:17847012|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:24033266|PMID:25356970|PMID:25533962|PMID:25741868|PMID:26083569|PMID:26539891|PMID:26795593|PMID:26968897|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:28492532|PMID:29881806|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31980526|PMID:32071833|PMID:32725632|PMID:32860008|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34085948|PMID:34717047|PMID:34869784 9023876 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1313439 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16199547|PMID:17847012|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:24033266|PMID:25356970|PMID:25533962|PMID:25741868|PMID:26083569|PMID:26539891|PMID:26795593|PMID:26968897|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:28492532|PMID:29881806|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31980526|PMID:32071833|PMID:32725632|PMID:32860008|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34085948|PMID:34717047|PMID:34869784 9023876 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060275 pontocerebellar hypoplasia type 6 ISO RGD:1313439 D RGD:7240710 20180130 OMIM 9023876 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0060275 pontocerebellar hypoplasia type 6 ISO RGD:1313439 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Encephalopathy fatal infantile with mitochondrial respiratory chain defects | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 6 | ClinVar Annotator: match by term: RARS2-related condition PMID:10447505|PMID:16199547|PMID:17576681|PMID:17847012|PMID:18414213|PMID:20635367|PMID:20952379|PMID:22086604|PMID:22569581|PMID:2259581|PMID:24047924|PMID:24123792|PMID:25326635|PMID:25356970|PMID:25533962|PMID:25741868|PMID:25809939|PMID:26083569|PMID:26467025|PMID:26539891|PMID:26795593|PMID:26968897|PMID:26970947|PMID:2706168|PMID:27061686|PMID:27290639|PMID:27683254|PMID:28492532|PMID:29881806|PMID:30006346|PMID:30634555|PMID:31102535|PMID:31216405|PMID:31429931|PMID:31474318|PMID:31536827|PMID:31618753|PMID:31665838|PMID:32071833|PMID:32313153|PMID:32571458|PMID:32725632|PMID:32860008|PMID:33209735|PMID:33587123|PMID:33798445|PMID:33926074|PMID:33972171|PMID:34085948|PMID:34247374|PMID:34445196|PMID:34490615|PMID:34717047|PMID:34869784|PMID:35068129|PMID:9536098 9023876 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0070258 congenital disorder of glycosylation type IIf ISO RGD:1313439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SLC35A1-CDG PMID:24033266|PMID:28492532 9023876 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:0070338 cerebellar hypoplasia ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25533962|PMID:25741868|PMID:2706168|PMID:27061686|PMID:28492532|PMID:29881806|PMID:31429931|PMID:31474318 9023876 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1313439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe intellectual deficiency 9023876 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:1826 epilepsy ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 9023876 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:5212 congenital disorder of glycosylation ISO RGD:1313439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:24033266|PMID:25741868|PMID:28492532 9023876 Rars2 arginyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1313439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10447505|PMID:17576681|PMID:20635367|PMID:20952379|PMID:22569581|PMID:2259581|PMID:25326635|PMID:25356970|PMID:25741868|PMID:26083569|PMID:26539891|PMID:26795593|PMID:26968897|PMID:28492532|PMID:30006346|PMID:31102535|PMID:31216405|PMID:34085948|PMID:34717047|PMID:34869784|PMID:9536098 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:0050700 cardiomyopathy treatment ISO RGD:621368 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:17229387|REF_RGD_ID:13792652 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1344847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:0060071 pre-malignant neoplasm ISO RGD:1344847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1344847 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:25666834 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:0080600 COVID-19 ISO RGD:1344847 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:11612 polycystic ovary syndrome ISO RGD:621368 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:pancreas (rat) PMID:28397049|REF_RGD_ID:13703107 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:224 transient cerebral ischemia ISO RGD:621368 D RGD:9068941 20200609 RGD protein:increased expression:cerebrum (rat) PMID:21950801|REF_RGD_ID:13792582 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:3021 acute kidney failure ISO RGD:1344847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25666834 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:630 genetic disease ISO RGD:1344847 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:9000188 HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 ISO RGD:1344847 D RGD:7240710 20221123 OMIM 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:9000188 HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 ISO RGD:1344847 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 PMID:36239646 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:621368 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal glomerulus (rat) PMID:22591908|REF_RGD_ID:13792578 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:9002231 Fetal Growth Retardation ISO RGD:621368 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:26342040|REF_RGD_ID:13782135 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:9002669 Hypoxia ISO RGD:1344847 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19579223 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621368 D RGD:9068941 20200609 RGD associated with polycystic ovary syndrome;mRNA, protein:decreased expression:pancreas (rat) PMID:28397049|REF_RGD_ID:13703107 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:9007591 Hypermetabolism due to Defect in Mitochondria ISO RGD:1344847 D RGD:8554872 20230502 ClinVar ClinVar Annotator: match by term: Hypermetabolism due to Defect in Mitochondrial Coupling PMID:36239646 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:9008691 Liver Injury ISO RGD:621368 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:25772430|REF_RGD_ID:13800895 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:9352 type 2 diabetes mellitus ISO RGD:621368 D RGD:9068941 20200609 RGD protein:decreased expression:islet of Langerhans (rat) PMID:21117707|REF_RGD_ID:13792619 9023900 Atp5f1b ATP synthase F1 subunit beta gene DOID:9970 obesity treatment ISO RGD:621368 D RGD:9068941 20200609 RGD PMID:26880535|REF_RGD_ID:13782133 9023923 Arl16 ADP ribosylation factor like GTPase 16 gene DOID:630 genetic disease ISO RGD:1601700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023923 Arl16 ADP ribosylation factor like GTPase 16 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1601700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 9023949 Hpdl 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9023949 Hpdl 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0050952 spastic ataxia ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:32707086|PMID:33970200 9023949 Hpdl 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:1606204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:16557584|PMID:17949294|PMID:19806110|PMID:25820570|PMID:28492532 9023949 Hpdl 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9023949 Hpdl 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9023949 Hpdl 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0112346 hereditary spastic paraplegia 83 ISO RGD:1606204 D RGD:7240710 20201007 OMIM 9023949 Hpdl 4-hydroxyphenylpyruvate dioxygenase like gene DOID:0112346 hereditary spastic paraplegia 83 ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive PMID:25741868|PMID:32707086|PMID:33970200 9023949 Hpdl 4-hydroxyphenylpyruvate dioxygenase like gene DOID:1289 neurodegenerative disease ISO RGD:1332429 D RGD:9068941 20230406 MouseDO 9023949 Hpdl 4-hydroxyphenylpyruvate dioxygenase like gene DOID:607 paraplegia ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:32707086|PMID:33188300|PMID:33970200 9023949 Hpdl 4-hydroxyphenylpyruvate dioxygenase like gene DOID:630 genetic disease ISO RGD:1606204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32707086|PMID:33188300|PMID:33970200 9023949 Hpdl 4-hydroxyphenylpyruvate dioxygenase like gene DOID:9004548 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities ISO RGD:1606204 D RGD:7240710 20201216 OMIM 9023949 Hpdl 4-hydroxyphenylpyruvate dioxygenase like gene DOID:9004548 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities ISO RGD:1606204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities PMID:25741868|PMID:32707086|PMID:33188300|PMID:33634263|PMID:33970200|PMID:9084927|PMID:9973289 9023955 Rnase7 ribonuclease A family member 7 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1344446 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 9023955 Rnase7 ribonuclease A family member 7 gene DOID:630 genetic disease ISO RGD:1344446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023955 Rnase7 ribonuclease A family member 7 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344446 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9023960 Nusap1 nucleolar and spindle associated protein 1 gene DOID:0080457 microcephaly, seizures, and developmental delay ISO RGD:1313993 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay PMID:25741868 9023960 Nusap1 nucleolar and spindle associated protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1313993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9023960 Nusap1 nucleolar and spindle associated protein 1 gene DOID:630 genetic disease ISO RGD:1313993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023960 Nusap1 nucleolar and spindle associated protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1313993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9023960 Nusap1 nucleolar and spindle associated protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1313993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 9023960 Nusap1 nucleolar and spindle associated protein 1 gene DOID:9256 colorectal cancer ISO RGD:1313993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9023992 Znf189 zinc finger protein 189 gene DOID:1059 intellectual disability ISO RGD:1315167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9023992 Znf189 zinc finger protein 189 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1315167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 9023992 Znf189 zinc finger protein 189 gene DOID:630 genetic disease ISO RGD:1315167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9023992 Znf189 zinc finger protein 189 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1315167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 9024014 Phtf2 putative homeodomain transcription factor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1321591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9024014 Phtf2 putative homeodomain transcription factor 2 gene DOID:630 genetic disease ISO RGD:1321591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024014 Phtf2 putative homeodomain transcription factor 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1321591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 9024043 Aqp11 aquaporin 11 gene DOID:1059 intellectual disability ISO RGD:736750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9024043 Aqp11 aquaporin 11 gene DOID:630 genetic disease ISO RGD:736750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024050 Tbata thymus, brain and testes associated gene DOID:10487 Hirschsprung's disease ISO RGD:1322498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 9024050 Tbata thymus, brain and testes associated gene DOID:630 genetic disease ISO RGD:1322498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024076 Rbmx RNA binding motif protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9024076 Rbmx RNA binding motif protein X-linked gene DOID:0060825 Christianson syndrome ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 9024076 Rbmx RNA binding motif protein X-linked gene DOID:0060826 syndromic X-linked intellectual disability Shashi type ISO RGD:1349812 D RGD:7240710 20180130 OMIM 9024076 Rbmx RNA binding motif protein X-linked gene DOID:0060826 syndromic X-linked intellectual disability Shashi type ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type PMID:10677307|PMID:25256757|PMID:25741868 9024076 Rbmx RNA binding motif protein X-linked gene DOID:0081123 X-linked mental retardation Gustavson type ISO RGD:1349812 D RGD:7240710 20240207 OMIM 9024076 Rbmx RNA binding motif protein X-linked gene DOID:12849 autistic disorder ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9024076 Rbmx RNA binding motif protein X-linked gene DOID:630 genetic disease ISO RGD:1349812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024076 Rbmx RNA binding motif protein X-linked gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 9024076 Rbmx RNA binding motif protein X-linked gene DOID:9000039 Spinal Cord Injuries ISO RGD:1565256 D RGD:9068941 20200609 RGD PMID:23180094|REF_RGD_ID:10053723 9024076 Rbmx RNA binding motif protein X-linked gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1349812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 9024076 Rbmx RNA binding motif protein X-linked gene DOID:9007823 Chromosome Xq26.3 Duplication Syndrome ISO RGD:1349812 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome PMID:25712922|PMID:26935837 9024105 Plb1 phospholipase B1 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1346755 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9024105 Plb1 phospholipase B1 gene DOID:10283 prostate cancer ISO RGD:1346755 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9024105 Plb1 phospholipase B1 gene DOID:630 genetic disease ISO RGD:1346755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024105 Plb1 phospholipase B1 gene DOID:7148 rheumatoid arthritis ISO RGD:1346755 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24520335 9024177 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ISO RGD:1347670 D RGD:7240710 20180130 OMIM 9024177 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis-2 ISO RGD:1347670 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 PMID:17576681|PMID:22535186|PMID:24934289|PMID:25113787|PMID:25155093|PMID:25193783|PMID:25261972|PMID:25348631|PMID:25428574|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26224640|PMID:27810918|PMID:28069311|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696|PMID:33749723|PMID:9536098 9024177 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1347670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 9024177 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0081356 spinal muscular atrophy, Jokela type ISO RGD:1347670 D RGD:7240710 20180130 OMIM 9024177 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0081356 spinal muscular atrophy, Jokela type ISO RGD:1347670 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, Jokela type | ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type PMID:17576681|PMID:21715705|PMID:22535186|PMID:25113787|PMID:25155093|PMID:25193783|PMID:25261972|PMID:25348631|PMID:25428574|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26224640|PMID:26719383|PMID:27066538|PMID:27810918|PMID:28069311|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696|PMID:33749723|PMID:9536098 9024177 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0081357 isolated mitochondrial myopathy ISO RGD:1347670 D RGD:7240710 20180130 OMIM 9024177 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:0081357 isolated mitochondrial myopathy ISO RGD:1347670 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal dominant mitochondrial myopathy with exercise intolerance | ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant PMID:17576681|PMID:21715705|PMID:22535186|PMID:24934289|PMID:25113787|PMID:25155093|PMID:25193783|PMID:25261972|PMID:25348631|PMID:25428574|PMID:25576308|PMID:25681414|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26152333|PMID:26224640|PMID:27066538|PMID:27810918|PMID:28069311|PMID:28492532|PMID:28585542|PMID:29112723|PMID:29121267|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696|PMID:33749723|PMID:35700042|PMID:4104978|PMID:9536098 9024177 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:1826 epilepsy ISO RGD:1347670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9024177 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1347670 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot disease PMID:25576308|PMID:25741868|PMID:28492532|PMID:29540477|PMID:30014597|PMID:31690696 9024177 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:5419 schizophrenia ISO RGD:1347670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9024177 Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 gene DOID:630 genetic disease ISO RGD:1347670 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22535186|PMID:25155093|PMID:25428574|PMID:25576308|PMID:25700176|PMID:25726362|PMID:25741868|PMID:25833818|PMID:26224640|PMID:27810918|PMID:28492532|PMID:29315381|PMID:29540477|PMID:29789341|PMID:30014597|PMID:31690696 9024193 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1606289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25901006 9024193 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0112095 nuclear type mitochondrial complex I deficiency 28 ISO RGD:1606289 D RGD:7240710 20190315 OMIM 9024193 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:0112095 nuclear type mitochondrial complex I deficiency 28 ISO RGD:1606289 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 PMID:25741868|PMID:25901006 9024193 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:14330 Parkinson's disease ISO RGD:1606289 D RGD:9068941 20200609 RGD PMID:26605748|REF_RGD_ID:13504667 9024193 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:3526 cerebral infarction ISO RGD:6492821 D RGD:9068941 20231102 RGD protein:increased expression:brain, neuron, astrocyte: PMID:17523870|REF_RGD_ID:401854233 9024193 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:3652 Leigh disease ISO RGD:1606289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868 9024193 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:630 genetic disease ISO RGD:1606289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9024193 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:1606289 D RGD:7240710 20180130 OMIM 9024193 Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 gene DOID:8161 thyroid gland Hurthle cell carcinoma ISO RGD:1606289 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hurthle cell carcinoma of the thyroid PMID:15841082|PMID:25741868 9024203 Nxpe4 neurexophilin and PC-esterase domain family member 4 gene DOID:1059 intellectual disability ISO RGD:1350536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9024203 Nxpe4 neurexophilin and PC-esterase domain family member 4 gene DOID:630 genetic disease ISO RGD:1350536 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024203 Nxpe4 neurexophilin and PC-esterase domain family member 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9024203 Nxpe4 neurexophilin and PC-esterase domain family member 4 gene DOID:9007661 Dwarfism ISO RGD:1350536 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9024223 Zdhhc14 zinc finger DHHC-type palmitoyltransferase 14 gene DOID:10348 blepharophimosis ISO RGD:1352800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis PMID:24674232 9024223 Zdhhc14 zinc finger DHHC-type palmitoyltransferase 14 gene DOID:630 genetic disease ISO RGD:1352800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024240 Mxi1 MAX interactor 1, dimerization protein gene DOID:0080507 Cornelia de Lange syndrome 3 ISO RGD:736546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 3 PMID:28492532 9024240 Mxi1 MAX interactor 1, dimerization protein gene DOID:10283 prostate cancer ISO RGD:736546 D RGD:7240710 20180418 OMIM 9024240 Mxi1 MAX interactor 1, dimerization protein gene DOID:10283 prostate cancer ISO RGD:736546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:7773287 9024240 Mxi1 MAX interactor 1, dimerization protein gene DOID:2394 ovarian cancer ISO RGD:736546 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 9024240 Mxi1 MAX interactor 1, dimerization protein gene DOID:3458 breast adenocarcinoma ISO RGD:3128 D RGD:9068941 20200609 RGD PMID:10849326|REF_RGD_ID:1298988 9024240 Mxi1 MAX interactor 1, dimerization protein gene DOID:3512 neurofibrosarcoma ISO RGD:736546 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibrosarcoma PMID:10470286 9024240 Mxi1 MAX interactor 1, dimerization protein gene DOID:5041 esophageal cancer ISO RGD:3128 D RGD:9068941 20200609 RGD PMID:10849326|REF_RGD_ID:1298988 9024240 Mxi1 MAX interactor 1, dimerization protein gene DOID:557 kidney disease ISO RGD:736546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23316056 9024240 Mxi1 MAX interactor 1, dimerization protein gene DOID:630 genetic disease ISO RGD:736546 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9024240 Mxi1 MAX interactor 1, dimerization protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:736546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9024250 Srsf12 serine and arginine rich splicing factor 12 gene DOID:630 genetic disease ISO RGD:1606967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024258 Hnf4g hepatocyte nuclear factor 4 gamma gene DOID:630 genetic disease ISO RGD:1320814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024278 Alpk1 alpha kinase 1 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1351787 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:25741868 9024278 Alpk1 alpha kinase 1 gene DOID:11664 nephrosclerosis ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 9024278 Alpk1 alpha kinase 1 gene DOID:12271 aniridia ISO RGD:1351787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 9024278 Alpk1 alpha kinase 1 gene DOID:13189 gout ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 9024278 Alpk1 alpha kinase 1 gene DOID:630 genetic disease ISO RGD:1351787 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9024278 Alpk1 alpha kinase 1 gene DOID:9001981 Weight Loss ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 9024278 Alpk1 alpha kinase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 9024278 Alpk1 alpha kinase 1 gene DOID:9005477 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome ISO RGD:1351787 D RGD:7240710 20201111 OMIM 9024278 Alpk1 alpha kinase 1 gene DOID:9005477 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome ISO RGD:1351787 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome PMID:25741868|PMID:28492532|PMID:30967659|PMID:31053777|PMID:31939038|PMID:35868845 9024278 Alpk1 alpha kinase 1 gene DOID:9351 diabetes mellitus ISO RGD:1351787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27542954 9024315 Lrrc38 leucine rich repeat containing 38 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602439 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9024315 Lrrc38 leucine rich repeat containing 38 gene DOID:630 genetic disease ISO RGD:1602439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024321 Dnase1l3 deoxyribonuclease 1 like 3 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:733865 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 9024321 Dnase1l3 deoxyribonuclease 1 like 3 gene DOID:630 genetic disease ISO RGD:733865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9024321 Dnase1l3 deoxyribonuclease 1 like 3 gene DOID:684 hepatocellular carcinoma ISO RGD:733865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9024321 Dnase1l3 deoxyribonuclease 1 like 3 gene DOID:7148 rheumatoid arthritis ISO RGD:733865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143596|PMID:30224649 9024321 Dnase1l3 deoxyribonuclease 1 like 3 gene DOID:9003353 Systemic Lupus Erythematosus 16 ISO RGD:733865 D RGD:7240710 20180130 OMIM 9024321 Dnase1l3 deoxyribonuclease 1 like 3 gene DOID:9003353 Systemic Lupus Erythematosus 16 ISO RGD:733865 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 16 PMID:21692081|PMID:22019780|PMID:24206041|PMID:25741868|PMID:28492532|PMID:30707351 9024321 Dnase1l3 deoxyribonuclease 1 like 3 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:733865 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 9024321 Dnase1l3 deoxyribonuclease 1 like 3 gene DOID:9005172 Lung Neoplasms ISO RGD:733865 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21720004 9024321 Dnase1l3 deoxyribonuclease 1 like 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:733865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22019780 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0050868 hepatocellular adenoma ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:17183066|REF_RGD_ID:14696794 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0070225 progressive familial intrahepatic cholestasis 5 ISO RGD:734103 D RGD:7240710 20190315 OMIM 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0070225 progressive familial intrahepatic cholestasis 5 ISO RGD:734103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 | ClinVar Annotator: match by term: NR1H4-related condition PMID:11030617|PMID:17681172|PMID:21633855|PMID:24806754|PMID:25741868|PMID:26888176|PMID:28492532|PMID:31201556 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0070226 progressive familial intrahepatic cholestasis 1 ISO RGD:734103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Byler disease PMID:11030617|PMID:21633855|PMID:26888176|PMID:28492532 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:734103 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:29142166|PMID:32062620 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:29743187|REF_RGD_ID:14696797 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23117815|REF_RGD_ID:15045604 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease susceptibility ISO RGD:734104 D RGD:9068941 20200609 RGD DNA:deletion:cds:exon 9 (mouse) PMID:23700488|REF_RGD_ID:14701033 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:30257410|REF_RGD_ID:15090799 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080546 non-alcoholic fatty liver severity ISO RGD:734104 D RGD:9068941 20200609 RGD cholic acid fed FXR-/- mouse PMID:12971955|REF_RGD_ID:15045573 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis ISO RGD:734103 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28774887|REF_RGD_ID:15045601 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:10762 portal hypertension treatment ISO RGD:628831 D RGD:9068941 20200609 RGD associated with liver cirrhosis;mRNA:altered expression:liver (rat) PMID:19418582|REF_RGD_ID:15042868 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:10787 premature menopause ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:12236 primary biliary cholangitis susceptibility ISO RGD:734103 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver (human) PMID:29968724|REF_RGD_ID:14928336 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:12336 male infertility ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30245210 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum (rat) PMID:30077711|REF_RGD_ID:15045597 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461449|PMID:23178280 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis severity ISO RGD:734104 D RGD:9068941 20200609 RGD mutant FXR-/- mouse PMID:12949728|REF_RGD_ID:14701031 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:30061734|PMID:30223280|REF_RGD_ID:15045612|REF_RGD_ID:15092071 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) PMID:29235094|REF_RGD_ID:15042872 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:13580 cholestasis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:27090119|REF_RGD_ID:15090804 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:13619 extrahepatic cholestasis ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:14623915|REF_RGD_ID:1625205 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:13619 extrahepatic cholestasis ISO RGD:734103 D RGD:9068941 20200609 RGD human gene in mouse model PMID:22057115|REF_RGD_ID:14928333 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:13619 extrahepatic cholestasis disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:29138817|REF_RGD_ID:15042871 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:13619 extrahepatic cholestasis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:29360226|REF_RGD_ID:14995480 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:1852 intrahepatic cholestasis ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:15644430|REF_RGD_ID:1625202 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:1936 atherosclerosis ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30996006 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:409 liver disease ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22130247 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:24255171|REF_RGD_ID:15090822 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:5082 liver cirrhosis severity ISO RGD:734104 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (mouse) PMID:19418582|REF_RGD_ID:15042868 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:5082 liver cirrhosis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:altered expression:liver, kidney (rat) PMID:30308196|REF_RGD_ID:15042865 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:630 genetic disease ISO RGD:734103 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811326|PMID:25496033 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734103 D RGD:9068941 20200609 RGD intestinally expressed human gene in mouse model PMID:24954587|REF_RGD_ID:14928334 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734103 D RGD:9068941 20200609 RGD mRNA:splice variant(s):liver (human) PMID:23213087|REF_RGD_ID:14928330 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:23811326|REF_RGD_ID:14696796 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:684 hepatocellular carcinoma ISO RGD:734104 D RGD:9068941 20220825 MouseDO OMIM:114550 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:8778 Crohn's disease ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21829567 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9000146 Plaque, Atherosclerotic ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30996006 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:628831 D RGD:9068941 20200609 RGD associated with portal hypertension;mRNA;decreased expression;liver (rat) PMID:24259407|REF_RGD_ID:15045598 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:27993716|REF_RGD_ID:14701034 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:altered expression:liver (rat) PMID:15980055|REF_RGD_ID:1625201 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9001586 Experimental Liver Neoplasms susceptibility ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:17283114|REF_RGD_ID:14701032 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9002245 Intestinal Neoplasms ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23178280 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9005369 Hepatomegaly ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29142166 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9005372 Inflammation ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29142166 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:15047603|REF_RGD_ID:1625080 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9005749 Necrosis ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30996006 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9006205 Animal Disease Models ISO RGD:734103 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:29142166|PMID:32062620 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007188 Liver Neoplasms ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23178280|PMID:24091600|PMID:24189133|PMID:29142166|PMID:30556042 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:28827769|REF_RGD_ID:15045609 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12875239 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:628831 D RGD:9068941 20200609 RGD protein:decreased expression:liver (rat) PMID:30068870|REF_RGD_ID:15042870 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:22711662|REF_RGD_ID:14701036 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:628831 D RGD:9068941 20200609 RGD PMID:29091898|REF_RGD_ID:15090820 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:20573685|PMID:29091898|REF_RGD_ID:14701035|REF_RGD_ID:15090820 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:16557297|REF_RGD_ID:1625076 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9007755 Intestinal Reperfusion Injury disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23331901|REF_RGD_ID:15042883 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9008511 Extravasation of Diagnostic and Therapeutic Materials ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22135065 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9452 steatotic liver disease ISO RGD:734103 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29142166 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9452 steatotic liver disease severity ISO RGD:734104 D RGD:9068941 20200609 RGD knockout eliminates treatment effectiveness PMID:23104131|REF_RGD_ID:14696795 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9452 steatotic liver disease treatment ISO RGD:734104 D RGD:9068941 20200609 RGD PMID:12971955|REF_RGD_ID:15045573 9024343 Nr1h4 nuclear receptor subfamily 1 group H member 4 gene DOID:9970 obesity disease_progression ISO RGD:628831 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 9024369 Timm10b translocase of inner mitochondrial membrane 10B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9024369 Timm10b translocase of inner mitochondrial membrane 10B gene DOID:630 genetic disease ISO RGD:736128 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024376 Adgrg7 adhesion G protein-coupled receptor G7 gene DOID:630 genetic disease ISO RGD:1316279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024376 Adgrg7 adhesion G protein-coupled receptor G7 gene DOID:684 hepatocellular carcinoma ISO RGD:1316279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9024400 LOC102023780 aromatase gene DOID:0060041 autism spectrum disorder ISO RGD:1606587 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9024400 LOC102023780 aromatase gene DOID:0080011 bone resorption disease ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11985600 9024400 LOC102023780 aromatase gene DOID:0090122 aromatase excess syndrome ISO RGD:1606587 D RGD:7240710 20180130 OMIM 9024400 LOC102023780 aromatase gene DOID:0090122 aromatase excess syndrome ISO RGD:1606587 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome | ClinVar Annotator: match by term: Familial gynecomastia, due to increased aromatase activity PMID:10566648|PMID:12466340|PMID:14602738|PMID:14715828|PMID:1496995|PMID:16199547|PMID:16882736|PMID:17164303|PMID:17576681|PMID:1825497|PMID:20048079|PMID:20186154|PMID:21521281|PMID:23329769|PMID:25088806|PMID:25301327|PMID:25415177|PMID:25741868|PMID:26822949|PMID:27086564|PMID:27256151|PMID:27693882|PMID:28492532|PMID:2973313|PMID:30968679|PMID:8265607|PMID:8530621|PMID:9177373|PMID:9211678|PMID:9536098|PMID:9718379 9024400 LOC102023780 aromatase gene DOID:10652 Alzheimer's disease ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:16882736|REF_RGD_ID:1600861 9024400 LOC102023780 aromatase gene DOID:10652 Alzheimer's disease ISO RGD:1606587 D RGD:9068941 20200609 RGD mRNA:altered expression:cerebellum, hippocampus (human) PMID:18180323|REF_RGD_ID:4889108 9024400 LOC102023780 aromatase gene DOID:10763 hypertension ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary (rat) PMID:19228890|REF_RGD_ID:4761326 9024400 LOC102023780 aromatase gene DOID:1100 ovarian disease ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11985600 9024400 LOC102023780 aromatase gene DOID:11054 urinary bladder cancer ISO RGD:737520 D RGD:9068941 20200609 RGD PMID:17406000|REF_RGD_ID:7257712 9024400 LOC102023780 aromatase gene DOID:11476 osteoporosis ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20723554 9024400 LOC102023780 aromatase gene DOID:11476 osteoporosis ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:snps:multiple (human) PMID:17002564|REF_RGD_ID:1625350 9024400 LOC102023780 aromatase gene DOID:11612 polycystic ovary syndrome ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21262361|PMID:22381227|PMID:8265607|PMID:9177373 9024400 LOC102023780 aromatase gene DOID:11612 polycystic ovary syndrome ISO RGD:2457 D RGD:9068941 20200609 RGD PMID:23183180|REF_RGD_ID:7257726 9024400 LOC102023780 aromatase gene DOID:11612 polycystic ovary syndrome ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA, protein:decreased expresssion:ovary PMID:23598873|REF_RGD_ID:7257717 9024400 LOC102023780 aromatase gene DOID:11612 polycystic ovary syndrome susceptibility ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A264C (rs700519) (human) PMID:21282199|REF_RGD_ID:7257710 9024400 LOC102023780 aromatase gene DOID:11714 gestational diabetes ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20421132 9024400 LOC102023780 aromatase gene DOID:11801 protein-energy malnutrition ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary (rat) PMID:20018485|REF_RGD_ID:4890381 9024400 LOC102023780 aromatase gene DOID:12577 urethral obstruction ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:12050560|REF_RGD_ID:7257713 9024400 LOC102023780 aromatase gene DOID:12849 autistic disorder ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21359227 9024400 LOC102023780 aromatase gene DOID:12894 Sjogren's syndrome ISO RGD:737520 D RGD:9068941 20220825 MouseDO OMIM:270150 9024400 LOC102023780 aromatase gene DOID:1380 endometrial cancer ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004) PMID:18497059|REF_RGD_ID:2301045 9024400 LOC102023780 aromatase gene DOID:13938 amenorrhea ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8265607 9024400 LOC102023780 aromatase gene DOID:13948 bladder neck obstruction ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:21356374|REF_RGD_ID:7257709 9024400 LOC102023780 aromatase gene DOID:1459 hypothyroidism ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary (rat) PMID:20149258|REF_RGD_ID:4890368 9024400 LOC102023780 aromatase gene DOID:14654 prostatitis ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:19700748|REF_RGD_ID:7257711 9024400 LOC102023780 aromatase gene DOID:1612 breast cancer ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:repeat::(TTTA)10 (human) PMID:16875543|REF_RGD_ID:2301046 9024400 LOC102023780 aromatase gene DOID:1612 breast cancer treatment ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:7053713|REF_RGD_ID:7257716 9024400 LOC102023780 aromatase gene DOID:1612 breast cancer treatment ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs700518 (human) PMID:23643682|REF_RGD_ID:7257707 9024400 LOC102023780 aromatase gene DOID:1924 hypogonadism ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9177373 9024400 LOC102023780 aromatase gene DOID:2394 ovarian cancer ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.001) PMID:18497059|REF_RGD_ID:2301045 9024400 LOC102023780 aromatase gene DOID:2717 Bloom syndrome ISO RGD:1606587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9024400 LOC102023780 aromatase gene DOID:289 endometriosis ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815356|PMID:21958689 9024400 LOC102023780 aromatase gene DOID:289 endometriosis ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:8550748|REF_RGD_ID:7257715 9024400 LOC102023780 aromatase gene DOID:289 endometriosis ISO RGD:2457 D RGD:9068941 20200609 RGD PMID:23406865|REF_RGD_ID:7257718 9024400 LOC102023780 aromatase gene DOID:299 adenocarcinoma ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 9024400 LOC102023780 aromatase gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1606587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 9024400 LOC102023780 aromatase gene DOID:3891 placental insufficiency ISO RGD:2457 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:hippocampus (rat) PMID:20662593|REF_RGD_ID:4890445 9024400 LOC102023780 aromatase gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:1606587 D RGD:9068941 20210521 RGD DNA:SNP:5'utr: (rs2445762) (human) PMID:21472143|REF_RGD_ID:126925218 9024400 LOC102023780 aromatase gene DOID:5426 primary ovarian insufficiency ISO RGD:1606587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:20048079|PMID:25741868 9024400 LOC102023780 aromatase gene DOID:607 paraplegia ISO RGD:1606587 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 9024400 LOC102023780 aromatase gene DOID:630 genetic disease ISO RGD:1606587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024400 LOC102023780 aromatase gene DOID:8634 prostate carcinoma in situ ISO RGD:1606587 D RGD:9068941 20200609 RGD PMID:19700748|REF_RGD_ID:7257711 9024400 LOC102023780 aromatase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 9024400 LOC102023780 aromatase gene DOID:9000784 Fibrosis ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22028442 9024400 LOC102023780 aromatase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28112739 9024400 LOC102023780 aromatase gene DOID:9001604 Sexual Infantilism ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8265607 9024400 LOC102023780 aromatase gene DOID:9001827 Critical Illness ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16670151 9024400 LOC102023780 aromatase gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2457 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22301628|REF_RGD_ID:7257708 9024400 LOC102023780 aromatase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16424004|PMID:17704407 9024400 LOC102023780 aromatase gene DOID:9002331 Knee Osteoarthritis ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:SNP:intron, 5' utr: (rs1062033) (human) PMID:20417295|REF_RGD_ID:10045662 9024400 LOC102023780 aromatase gene DOID:9002801 Recurrence ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28112739 9024400 LOC102023780 aromatase gene DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency ISO RGD:1606587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:25741868 9024400 LOC102023780 aromatase gene DOID:9004009 Reperfusion Injury ISO RGD:2457 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:21114983|REF_RGD_ID:4890041 9024400 LOC102023780 aromatase gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1606587 D RGD:9068941 20200609 RGD DNA:snps:exon:multiple (human) PMID:17118999|REF_RGD_ID:1600860 9024400 LOC102023780 aromatase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2457 D RGD:9068941 20200609 RGD protein:decreased expression:ovary, testis (rat) PMID:20428845|REF_RGD_ID:4890359 9024400 LOC102023780 aromatase gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2457 D RGD:9068941 20200609 RGD PMID:23552495|REF_RGD_ID:7244372 9024400 LOC102023780 aromatase gene DOID:9007456 Female Infertility ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14684609 9024400 LOC102023780 aromatase gene DOID:9008113 Tissue Adhesions treatment ISO RGD:2457 D RGD:9068941 20200609 RGD PMID:23395555|REF_RGD_ID:7257719 9024400 LOC102023780 aromatase gene DOID:9008939 Breast Neoplasms ISO RGD:1606587 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:11850205|PMID:19639193|PMID:23342035|PMID:28112739|PMID:29701941|PMID:34426286 9024400 LOC102023780 aromatase gene DOID:9256 colorectal cancer ISO RGD:1606587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9024400 LOC102023780 aromatase gene DOID:9406 hypopituitarism ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970278 9024400 LOC102023780 aromatase gene DOID:9452 steatotic liver disease ISO RGD:1606587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11929713 9024430 LOC102023894 chromosome unknown open reading frame, human C11orf54 gene DOID:1059 intellectual disability ISO RGD:1603055 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9024430 LOC102023894 chromosome unknown open reading frame, human C11orf54 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1309534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9024452 Mapk12 mitogen-activated protein kinase 12 gene DOID:0060041 autism spectrum disorder ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 9024452 Mapk12 mitogen-activated protein kinase 12 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:731716 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 9024452 Mapk12 mitogen-activated protein kinase 12 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9024452 Mapk12 mitogen-activated protein kinase 12 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 9024452 Mapk12 mitogen-activated protein kinase 12 gene DOID:10581 metachromatic leukodystrophy ISO RGD:731716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 9024452 Mapk12 mitogen-activated protein kinase 12 gene DOID:1059 intellectual disability ISO RGD:731716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9024452 Mapk12 mitogen-activated protein kinase 12 gene DOID:630 genetic disease ISO RGD:731716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024466 Itgb6 integrin subunit beta 6 gene DOID:0110064 amelogenesis imperfecta type 1H ISO RGD:1346382 D RGD:7240710 20180130 OMIM 9024466 Itgb6 integrin subunit beta 6 gene DOID:0110064 amelogenesis imperfecta type 1H ISO RGD:1346382 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H PMID:14970781|PMID:16838342|PMID:24305999|PMID:24319098|PMID:25741868|PMID:28492532|PMID:9189626 9024466 Itgb6 integrin subunit beta 6 gene DOID:10283 prostate cancer ISO RGD:1346382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9024466 Itgb6 integrin subunit beta 6 gene DOID:10907 microcephaly ISO RGD:1346382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9024466 Itgb6 integrin subunit beta 6 gene DOID:12849 autistic disorder ISO RGD:1346382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:18414213 9024466 Itgb6 integrin subunit beta 6 gene DOID:2841 asthma ISO RGD:1552765 D RGD:9068941 20220825 MouseDO OMIM:600807 9024466 Itgb6 integrin subunit beta 6 gene DOID:409 liver disease ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221819 9024466 Itgb6 integrin subunit beta 6 gene DOID:417 autoimmune disease ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 9024466 Itgb6 integrin subunit beta 6 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:1346382 D RGD:9068941 20200609 RGD associated with Hepatitis C, Chronic;mRNA:increased expression:liver PMID:18221819|REF_RGD_ID:2302245 9024466 Itgb6 integrin subunit beta 6 gene DOID:630 genetic disease ISO RGD:1346382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024466 Itgb6 integrin subunit beta 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1303119 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:18538673|REF_RGD_ID:2302244 9024466 Itgb6 integrin subunit beta 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221819 9024466 Itgb6 integrin subunit beta 6 gene DOID:9003281 Spontaneous Abortions ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9024466 Itgb6 integrin subunit beta 6 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18221819 9024466 Itgb6 integrin subunit beta 6 gene DOID:9446 cholangitis ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25055964 9024466 Itgb6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1346382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12634787 9024466 Itgb6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1552765 D RGD:9068941 20200609 RGD PMID:12634787|REF_RGD_ID:737734 9024466 Itgb6 integrin subunit beta 6 gene DOID:9675 pulmonary emphysema ISO RGD:1552765 D RGD:9068941 20220825 MouseDO OMIM:130700 9024498 Ptprt protein tyrosine phosphatase receptor type T gene DOID:0060041 autism spectrum disorder ISO RGD:1320107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9024498 Ptprt protein tyrosine phosphatase receptor type T gene DOID:1059 intellectual disability ISO RGD:1320107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9024498 Ptprt protein tyrosine phosphatase receptor type T gene DOID:12849 autistic disorder ISO RGD:1320107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9024498 Ptprt protein tyrosine phosphatase receptor type T gene DOID:219 colon cancer ISO RGD:1320108 D RGD:9068941 20211217 RGD PMID:20133777|REF_RGD_ID:150520184 9024498 Ptprt protein tyrosine phosphatase receptor type T gene DOID:219 colon cancer exacerbates ISO RGD:10166 D RGD:9068941 20220204 RGD PMID:27447856|REF_RGD_ID:150520192 9024498 Ptprt protein tyrosine phosphatase receptor type T gene DOID:2234 focal epilepsy ISO RGD:1320107 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9024498 Ptprt protein tyrosine phosphatase receptor type T gene DOID:3748 esophagus squamous cell carcinoma susceptibility ISO RGD:1320107 D RGD:9068941 20211105 RGD DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) PMID:25967969|REF_RGD_ID:150520191 9024498 Ptprt protein tyrosine phosphatase receptor type T gene DOID:5419 schizophrenia ISO RGD:1320107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9024498 Ptprt protein tyrosine phosphatase receptor type T gene DOID:630 genetic disease ISO RGD:1320107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024498 Ptprt protein tyrosine phosphatase receptor type T gene DOID:9256 colorectal cancer treatment ISO RGD:1320107 D RGD:9068941 20211105 RGD DNA:deletion: PMID:30200630|REF_RGD_ID:150520195 9024537 Dedd death effector domain containing gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:731723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 9024537 Dedd death effector domain containing gene DOID:1540 parathyroid carcinoma ISO RGD:731723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9024537 Dedd death effector domain containing gene DOID:630 genetic disease ISO RGD:731723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024537 Dedd death effector domain containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731723 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9024573 Dnttip1 deoxynucleotidyltransferase terminal interacting protein 1 gene DOID:2234 focal epilepsy ISO RGD:1322651 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9024573 Dnttip1 deoxynucleotidyltransferase terminal interacting protein 1 gene DOID:630 genetic disease ISO RGD:1322651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024573 Dnttip1 deoxynucleotidyltransferase terminal interacting protein 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1322651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 9024593 Gpr162 G protein-coupled receptor 162 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1603661 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9024593 Gpr162 G protein-coupled receptor 162 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1603661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9024593 Gpr162 G protein-coupled receptor 162 gene DOID:0111621 Temtamy syndrome ISO RGD:1603661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9024593 Gpr162 G protein-coupled receptor 162 gene DOID:630 genetic disease ISO RGD:1603661 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024593 Gpr162 G protein-coupled receptor 162 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1603661 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9024608 Nol8 nucleolar protein 8 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:1319952 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant PMID:28492532 9024608 Nol8 nucleolar protein 8 gene DOID:0070162 hereditary sensory and autonomic neuropathy type 1 ISO RGD:1319952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:28492532 9024608 Nol8 nucleolar protein 8 gene DOID:0070349 spinal muscular atrophy with predominant lower extremity 2A ISO RGD:1319952 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant PMID:28492532 9024608 Nol8 nucleolar protein 8 gene DOID:630 genetic disease ISO RGD:1319952 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024608 Nol8 nucleolar protein 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1319952 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30125550 9024632 Cops4 COP9 signalosome subunit 4 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1345570 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 9024632 Cops4 COP9 signalosome subunit 4 gene DOID:630 genetic disease ISO RGD:1345570 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024646 Robo2 roundabout guidance receptor 2 gene DOID:0080205 CAKUT ISO RGD:736256 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:17357069|PMID:18235093|PMID:22995991|PMID:23536131|PMID:24429398|PMID:25741868|PMID:27657687|PMID:28492532|PMID:30143558|PMID:30586318 9024646 Robo2 roundabout guidance receptor 2 gene DOID:0080332 bicuspid aortic valve disease ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:25691540|REF_RGD_ID:243048427 9024646 Robo2 roundabout guidance receptor 2 gene DOID:12849 autistic disorder ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18270976 9024646 Robo2 roundabout guidance receptor 2 gene DOID:1657 ventricular septal defect ISO RGD:62234 D RGD:9068941 20230330 RGD PMID:25691540|REF_RGD_ID:243048427 9024646 Robo2 roundabout guidance receptor 2 gene DOID:224 transient cerebral ischemia ISO RGD:620167 D RGD:9068941 20230330 RGD protein:increased expression:brain, astrocyte PMID:27686659|REF_RGD_ID:243048429 9024646 Robo2 roundabout guidance receptor 2 gene DOID:4947 cholangiocarcinoma ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 9024646 Robo2 roundabout guidance receptor 2 gene DOID:630 genetic disease ISO RGD:736256 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34059960 9024646 Robo2 roundabout guidance receptor 2 gene DOID:9000998 Brain Injuries ISO RGD:620167 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16262652|REF_RGD_ID:2316136 9024646 Robo2 roundabout guidance receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9024646 Robo2 roundabout guidance receptor 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 9024646 Robo2 roundabout guidance receptor 2 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:736256 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 9024646 Robo2 roundabout guidance receptor 2 gene DOID:9003734 Vesicoureteral Reflux 2 ISO RGD:736256 D RGD:7240710 20180130 OMIM 9024646 Robo2 roundabout guidance receptor 2 gene DOID:9003734 Vesicoureteral Reflux 2 ISO RGD:736256 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ROBO2-related condition | ClinVar Annotator: match by term: Vesicoureteral reflux 2 PMID:16199547|PMID:17357069|PMID:18235093|PMID:22558067|PMID:22995991|PMID:23536131|PMID:25741868|PMID:26489027|PMID:27657687|PMID:28492532 9024646 Robo2 roundabout guidance receptor 2 gene DOID:9620 vesicoureteral reflux ISO RGD:736256 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Vesicoureteral reflux PMID:28492532 9024704 Cryaa crystallin alpha A gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:735272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 9024704 Cryaa crystallin alpha A gene DOID:0110266 cataract 9 multiple types ISO RGD:735272 D RGD:7240710 20180130 OMIM 9024704 Cryaa crystallin alpha A gene DOID:0110266 cataract 9 multiple types ISO RGD:735272 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar Annotator: match by term: Cataract 9, autosomal recessive | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1 PMID:10684623|PMID:11006246|PMID:11123904|PMID:12601044|PMID:14512969|PMID:16564818|PMID:16735993|PMID:16862070|PMID:17296897|PMID:17724170|PMID:17937925|PMID:18056999|PMID:18085469|PMID:18302245|PMID:18587492|PMID:19182255|PMID:19503744|PMID:20079887|PMID:21042563|PMID:22045060|PMID:22140512|PMID:22216983|PMID:22347476|PMID:23255486|PMID:23379525|PMID:23441109|PMID:23508780|PMID:25018622|PMID:25694240|PMID:25741868|PMID:26542570|PMID:26694549|PMID:26867756|PMID:27307692|PMID:28179137|PMID:28492532|PMID:28839118|PMID:29386872|PMID:9467006 9024704 Cryaa crystallin alpha A gene DOID:1242 globe disease ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Globe disease PMID:17724170|PMID:19503744|PMID:22045060|PMID:22140512|PMID:22347476|PMID:23508780|PMID:25741868|PMID:28492532 9024704 Cryaa crystallin alpha A gene DOID:13141 uveitis ISO RGD:735272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578012|PMID:21850155 9024704 Cryaa crystallin alpha A gene DOID:417 autoimmune disease ISO RGD:735272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 9024704 Cryaa crystallin alpha A gene DOID:630 genetic disease ISO RGD:735272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024704 Cryaa crystallin alpha A gene DOID:83 cataract ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:17724170|PMID:17937925|PMID:18587492|PMID:19503744|PMID:22045060|PMID:22140512|PMID:22347476|PMID:23379525|PMID:23441109|PMID:23508780|PMID:25018622|PMID:25694240|PMID:25741868|PMID:26694549|PMID:28179137|PMID:28492532|PMID:28839118|PMID:29386872 9024704 Cryaa crystallin alpha A gene DOID:891 progressive myoclonus epilepsy ISO RGD:735272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 9024704 Cryaa crystallin alpha A gene DOID:9002535 Cataract, Autosomal Recessive Congenital 1 ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1 PMID:10684623|PMID:11123904|PMID:16564818|PMID:16735993|PMID:17296897|PMID:17724170|PMID:17937925|PMID:18085469|PMID:18302245|PMID:18587492|PMID:19503744|PMID:20079887|PMID:22045060|PMID:22140512|PMID:22216983|PMID:22347476|PMID:23379525|PMID:23441109|PMID:23508780|PMID:25018622|PMID:25694240|PMID:25741868|PMID:26694549|PMID:28179137|PMID:28492532|PMID:28839118|PMID:29386872|PMID:9467006 9024704 Cryaa crystallin alpha A gene DOID:9008296 Eye Abnormalities ISO RGD:735272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:17724170|PMID:19503744|PMID:22045060|PMID:22140512|PMID:22347476|PMID:23508780|PMID:25741868|PMID:28492532 9024704 Cryaa crystallin alpha A gene DOID:9263 homocystinuria ISO RGD:735272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 9024704 Cryaa crystallin alpha A gene DOID:9282 ocular hypertension ISO RGD:2413 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18626730|REF_RGD_ID:2303613 9024704 Cryaa crystallin alpha A gene DOID:9562 primary ciliary dyskinesia ISO RGD:735272 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9024704 Cryaa crystallin alpha A gene DOID:9870 galactosemia ISO RGD:2413 D RGD:9068941 20200609 RGD mRNA:decreased expression:lens PMID:1707863|REF_RGD_ID:1600994 9024715 Sucnr1 succinate receptor 1 gene DOID:630 genetic disease ISO RGD:1353653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024722 Foxk1 forkhead box K1 gene DOID:11372 megacolon ISO RGD:1604502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9024722 Foxk1 forkhead box K1 gene DOID:630 genetic disease ISO RGD:1604502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9024737 LOC102008533 cytochrome c oxidase subunit 7C, mitochondrial gene DOID:10652 Alzheimer's disease ISO RGD:1353652 D RGD:9068941 20200609 RGD PMID:28474567|REF_RGD_ID:13792588 9024737 LOC102008533 cytochrome c oxidase subunit 7C, mitochondrial gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9024737 LOC102008533 cytochrome c oxidase subunit 7C, mitochondrial gene DOID:9970 obesity ISO RGD:1353652 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 9024744 Golga7b golgin A7 family member B gene DOID:630 genetic disease ISO RGD:1312882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024781 Prmt1 protein arginine methyltransferase 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:731338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 9024781 Prmt1 protein arginine methyltransferase 1 gene DOID:2841 asthma ISO RGD:62020 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:20423833|REF_RGD_ID:9491823 9024781 Prmt1 protein arginine methyltransferase 1 gene DOID:630 genetic disease ISO RGD:731338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024781 Prmt1 protein arginine methyltransferase 1 gene DOID:674 cleft palate ISO RGD:62312 D RGD:9068941 20221117 MouseDO 9024781 Prmt1 protein arginine methyltransferase 1 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:62020 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23159951|REF_RGD_ID:9491822 9024809 Rps6ka4 ribosomal protein S6 kinase A4 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1316377 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9024809 Rps6ka4 ribosomal protein S6 kinase A4 gene DOID:1059 intellectual disability ISO RGD:1316377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9024809 Rps6ka4 ribosomal protein S6 kinase A4 gene DOID:3070 high grade glioma ISO RGD:1316377 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9024809 Rps6ka4 ribosomal protein S6 kinase A4 gene DOID:630 genetic disease ISO RGD:1316377 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024838 Nup205 nucleoporin 205 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1319746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26878725 9024838 Nup205 nucleoporin 205 gene DOID:0080381 nephrotic syndrome type 13 ISO RGD:1319746 D RGD:7240710 20190315 OMIM 9024838 Nup205 nucleoporin 205 gene DOID:0080381 nephrotic syndrome type 13 ISO RGD:1319746 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 13 PMID:25741868|PMID:26878725|PMID:28492532 9024838 Nup205 nucleoporin 205 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1319746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9024838 Nup205 nucleoporin 205 gene DOID:5408 Paget's disease of bone ISO RGD:1319746 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21623375 9024838 Nup205 nucleoporin 205 gene DOID:630 genetic disease ISO RGD:1319746 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9024838 Nup205 nucleoporin 205 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1319746 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9024894 Hnrnpul2 heterogeneous nuclear ribonucleoprotein U like 2 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1606938 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9024894 Hnrnpul2 heterogeneous nuclear ribonucleoprotein U like 2 gene DOID:1059 intellectual disability ISO RGD:1606938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9024894 Hnrnpul2 heterogeneous nuclear ribonucleoprotein U like 2 gene DOID:12849 autistic disorder ISO RGD:1606938 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:35982159 9024894 Hnrnpul2 heterogeneous nuclear ribonucleoprotein U like 2 gene DOID:630 genetic disease ISO RGD:1606938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024911 Rtl5 retrotransposon Gag like 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9024911 Rtl5 retrotransposon Gag like 5 gene DOID:12849 autistic disorder ISO RGD:1350874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9024911 Rtl5 retrotransposon Gag like 5 gene DOID:630 genetic disease ISO RGD:1350874 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024922 Pop4 POP4 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1314291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9024922 Pop4 POP4 homolog, ribonuclease P/MRP subunit gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21397856 9024948 Ppcs phosphopantothenoylcysteine synthetase gene DOID:0081159 dilated cardiomyopathy 2C ISO RGD:1605955 D RGD:7240710 20190315 OMIM 9024948 Ppcs phosphopantothenoylcysteine synthetase gene DOID:0081159 dilated cardiomyopathy 2C ISO RGD:1605955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2c PMID:25741868|PMID:28492532|PMID:29754768 9024948 Ppcs phosphopantothenoylcysteine synthetase gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9024948 Ppcs phosphopantothenoylcysteine synthetase gene DOID:630 genetic disease ISO RGD:1605955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9024960 Peak3 PEAK family member 3 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1352021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 9024960 Peak3 PEAK family member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9024976 Usp6nl USP6 N-terminal like gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1323420 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9024976 Usp6nl USP6 N-terminal like gene DOID:1909 melanoma ISO RGD:1323420 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 9024976 Usp6nl USP6 N-terminal like gene DOID:630 genetic disease ISO RGD:1323420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025000 Kcnj4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:733316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9025000 Kcnj4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:733316 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9025000 Kcnj4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:733316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9025000 Kcnj4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:10283 prostate cancer ISO RGD:733316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9025000 Kcnj4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:733316 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9025000 Kcnj4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:14330 Parkinson's disease ISO RGD:733316 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18619942 9025000 Kcnj4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:3910 lung adenocarcinoma ISO RGD:733316 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30512237 9025000 Kcnj4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:630 genetic disease ISO RGD:733316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025000 Kcnj4 potassium inwardly rectifying channel subfamily J member 4 gene DOID:9002955 Nerve Degeneration ISO RGD:733316 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18619942 9025018 Mogat1 monoacylglycerol O-acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1323209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025018 Mogat1 monoacylglycerol O-acyltransferase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9025031 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0050572 cone-rod dystrophy ISO RGD:1346782 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 9025031 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0050795 cone dystrophy ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY PMID:28041643|PMID:28492532|PMID:30718709 9025031 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1346782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 9025031 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0081023 retinal cone dystrophy 4 ISO RGD:1346782 D RGD:7240710 20180130 OMIM 9025031 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:0081023 retinal cone dystrophy 4 ISO RGD:1346782 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CACNA2D4-related condition | ClinVar Annotator: match by term: Retinal cone dystrophy 4 PMID:16199547|PMID:17033974|PMID:24033266|PMID:25741868|PMID:26002053|PMID:26218913|PMID:26560832|PMID:28041643|PMID:28492532|PMID:30718709 9025031 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1346782 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:32531858 9025031 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:2843 long QT syndrome ISO RGD:1346782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 9025031 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:630 genetic disease ISO RGD:1346782 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32483926 9025031 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:8501 fundus dystrophy ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 9025031 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9025031 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 gene DOID:9008296 Eye Abnormalities ISO RGD:1346782 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:17033974|PMID:24033266|PMID:26560832|PMID:28041643|PMID:28492532 9025073 Cab39 calcium binding protein 39 gene DOID:0060476 Perlman syndrome ISO RGD:1314979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 9025073 Cab39 calcium binding protein 39 gene DOID:0110991 Joubert syndrome 22 ISO RGD:1314979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 9025073 Cab39 calcium binding protein 39 gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1314979 D RGD:9068941 20200609 RGD PMID:28197410|REF_RGD_ID:14398834 9025073 Cab39 calcium binding protein 39 gene DOID:224 transient cerebral ischemia ISO RGD:1306390 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:27798271|REF_RGD_ID:14398833 9025073 Cab39 calcium binding protein 39 gene DOID:684 hepatocellular carcinoma ISO RGD:1314979 D RGD:9068941 20200609 RGD PMID:28605041|REF_RGD_ID:14398832 9025073 Cab39 calcium binding protein 39 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1314979 D RGD:9068941 20200609 RGD PMID:28605041|REF_RGD_ID:14398832 9025073 Cab39 calcium binding protein 39 gene DOID:7998 hyperthyroidism ISO RGD:1306390 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:muscle: PMID:18669938|REF_RGD_ID:10059691 9025073 Cab39 calcium binding protein 39 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314979 D RGD:9068941 20200609 RGD associated with pancreatic cancer;RNA:increased expression:pancreas PMID:28197410|REF_RGD_ID:14398834 9025073 Cab39 calcium binding protein 39 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1314979 D RGD:9068941 20200609 RGD associated with hepatocellular carcinoma; PMID:28605041|REF_RGD_ID:14398832 9025092 Ptprm protein tyrosine phosphatase receptor type M gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1347501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 9025092 Ptprm protein tyrosine phosphatase receptor type M gene DOID:1059 intellectual disability ISO RGD:1347501 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9025092 Ptprm protein tyrosine phosphatase receptor type M gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1347501 D RGD:9068941 20220303 RGD protein:decreased expression:blood (human) PMID:32663515|REF_RGD_ID:151660329 9025092 Ptprm protein tyrosine phosphatase receptor type M gene DOID:5419 schizophrenia ISO RGD:1347501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9025092 Ptprm protein tyrosine phosphatase receptor type M gene DOID:630 genetic disease ISO RGD:1347501 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025142 Ttll6 tubulin tyrosine ligase like 6 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1605245 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 9025142 Ttll6 tubulin tyrosine ligase like 6 gene DOID:630 genetic disease ISO RGD:1605245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025162 Slc9c2 solute carrier family 9 member C2 (putative) gene DOID:1540 parathyroid carcinoma ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9025162 Slc9c2 solute carrier family 9 member C2 (putative) gene DOID:3755 antithrombin III deficiency ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 9025162 Slc9c2 solute carrier family 9 member C2 (putative) gene DOID:630 genetic disease ISO RGD:1354032 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025162 Slc9c2 solute carrier family 9 member C2 (putative) gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 9025162 Slc9c2 solute carrier family 9 member C2 (putative) gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 9025162 Slc9c2 solute carrier family 9 member C2 (putative) gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9025194 Iqcb1 IQ motif containing B1 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1320759 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:15723066|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23847139|PMID:24033266|PMID:24625443|PMID:25741868|PMID:28041643|PMID:28492532|PMID:33535056 9025194 Iqcb1 IQ motif containing B1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1320759 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 9025194 Iqcb1 IQ motif containing B1 gene DOID:0110414 retinitis pigmentosa 3 severity ISO RGD:1352855 D RGD:9068941 20200609 RGD PMID:21857984|PMID:22183348|REF_RGD_ID:11352374|REF_RGD_ID:11537386 9025194 Iqcb1 IQ motif containing B1 gene DOID:0111005 cone-rod dystrophy 2 ISO RGD:12366518 D RGD:9068941 20240125 OMIA Retinal atrophy - Cone-rod dystrophy 2 PMID:15064680|PMID:22065099|PMID:24045995|PMID:27506978|PMID:30050836|PMID:33781914|PMID:34954206|PMID:38168165|PMID:38241039 9025194 Iqcb1 IQ motif containing B1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1320759 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15723066|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23847139|PMID:24625443|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29219953|PMID:33535056 9025194 Iqcb1 IQ motif containing B1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320759 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22261762|PMID:22773737|PMID:25741868|PMID:28492532|PMID:30718709 9025194 Iqcb1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25640679|PMID:25741868|PMID:25851290|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 9025194 Iqcb1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:15723066|PMID:17576681|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25640679|PMID:25741868|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 9025194 Iqcb1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:15723066|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25640679|PMID:25741868|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:9536098 9025194 Iqcb1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:16199547|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25640679|PMID:25741868|PMID:25851290|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27506978|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:29186038|PMID:29219953|PMID:30718709|PMID:32531858|PMID:9536098 9025194 Iqcb1 IQ motif containing B1 gene DOID:12712 nephronophthisis ISO RGD:1320759 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:15723066|PMID:16199547|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25640679|PMID:25741868|PMID:25851290|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27506978|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:29186038|PMID:29219953|PMID:30718709|PMID:32531858|PMID:33535056|PMID:9536098 9025194 Iqcb1 IQ motif containing B1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:15723066|PMID:20881296|PMID:21220633|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23559409|PMID:24625443|PMID:25741868|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562 9025194 Iqcb1 IQ motif containing B1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1320759 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 9025194 Iqcb1 IQ motif containing B1 gene DOID:630 genetic disease ISO RGD:1320759 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15723066|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23847139|PMID:24625443|PMID:25741868|PMID:28041643|PMID:28492532|PMID:33535056 9025194 Iqcb1 IQ motif containing B1 gene DOID:8501 fundus dystrophy ISO RGD:1320759 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15723066|PMID:18076122|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:25741868|PMID:25851290|PMID:26673778|PMID:28041643|PMID:28492532|PMID:28832562|PMID:29053603|PMID:29068479|PMID:33535056 9025194 Iqcb1 IQ motif containing B1 gene DOID:9004221 Senior-Loken Syndrome 5 ISO RGD:1320759 D RGD:7240710 20180130 OMIM 9025194 Iqcb1 IQ motif containing B1 gene DOID:9004221 Senior-Loken Syndrome 5 ISO RGD:1320759 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 5 PMID:15723066|PMID:16199547|PMID:17576681|PMID:18076122|PMID:19430481|PMID:20881296|PMID:21220633|PMID:21245082|PMID:21866095|PMID:21901789|PMID:22183348|PMID:22261762|PMID:22773737|PMID:23188109|PMID:23446637|PMID:23559409|PMID:23661368|PMID:23847139|PMID:24066033|PMID:24625443|PMID:24674142|PMID:25741868|PMID:25851290|PMID:26274329|PMID:26673778|PMID:26766544|PMID:27624628|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28832562|PMID:29053603|PMID:29068479|PMID:30718709|PMID:32531858|PMID:33535056|PMID:9536098 9025194 Iqcb1 IQ motif containing B1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 9025194 Iqcb1 IQ motif containing B1 gene DOID:9270 alkaptonuria ISO RGD:1320759 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9025217 Ero1a endoplasmic reticulum oxidoreductase 1 alpha gene DOID:630 genetic disease ISO RGD:1317870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025217 Ero1a endoplasmic reticulum oxidoreductase 1 alpha gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621713 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:12694393|REF_RGD_ID:632668 9025249 Msi1 musashi RNA binding protein 1 gene DOID:2316 brain ischemia ISO RGD:628778 D RGD:9068941 20200609 RGD PMID:12205668|REF_RGD_ID:633285 9025249 Msi1 musashi RNA binding protein 1 gene DOID:3454 brain infarction ISO RGD:628778 D RGD:9068941 20200609 RGD PMID:15250238|REF_RGD_ID:1582664 9025249 Msi1 musashi RNA binding protein 1 gene DOID:630 genetic disease ISO RGD:731816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025267 Ahcyl1 adenosylhomocysteinase like 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1320280 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 9025267 Ahcyl1 adenosylhomocysteinase like 1 gene DOID:12849 autistic disorder ISO RGD:1320280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9025267 Ahcyl1 adenosylhomocysteinase like 1 gene DOID:630 genetic disease ISO RGD:1320280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025294 Tmem229b transmembrane protein 229B gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1348278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 9025294 Tmem229b transmembrane protein 229B gene DOID:630 genetic disease ISO RGD:1348278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025322 Rhebl1 RHEB like 1 gene DOID:0080600 COVID-19 ISO RGD:1346400 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9025322 Rhebl1 RHEB like 1 gene DOID:630 genetic disease ISO RGD:1346400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025335 Slc16a4 solute carrier family 16 member 4 gene DOID:0080416 developmental and epileptic encephalopathy 32 ISO RGD:1348929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230 9025335 Slc16a4 solute carrier family 16 member 4 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1348929 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 9025335 Slc16a4 solute carrier family 16 member 4 gene DOID:12849 autistic disorder ISO RGD:1348929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9025335 Slc16a4 solute carrier family 16 member 4 gene DOID:630 genetic disease ISO RGD:1348929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025358 Cpxm1 carboxypeptidase X, M14 family member 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1315836 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 9025358 Cpxm1 carboxypeptidase X, M14 family member 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1315836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 9025358 Cpxm1 carboxypeptidase X, M14 family member 1 gene DOID:630 genetic disease ISO RGD:1315836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025385 Mrps34 mitochondrial ribosomal protein S34 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062 9025385 Mrps34 mitochondrial ribosomal protein S34 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1313761 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9025385 Mrps34 mitochondrial ribosomal protein S34 gene DOID:0111492 combined oxidative phosphorylation deficiency 32 ISO RGD:1313761 D RGD:7240710 20190315 OMIM 9025385 Mrps34 mitochondrial ribosomal protein S34 gene DOID:0111492 combined oxidative phosphorylation deficiency 32 ISO RGD:1313761 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 PMID:25741868|PMID:28492532|PMID:2877793|PMID:28777931|PMID:32445240|PMID:34052969|PMID:35326425 9025385 Mrps34 mitochondrial ribosomal protein S34 gene DOID:1826 epilepsy ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9025385 Mrps34 mitochondrial ribosomal protein S34 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9025385 Mrps34 mitochondrial ribosomal protein S34 gene DOID:3652 Leigh disease ISO RGD:1313761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:2877793|PMID:28777931 9025385 Mrps34 mitochondrial ribosomal protein S34 gene DOID:630 genetic disease ISO RGD:1313761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9025385 Mrps34 mitochondrial ribosomal protein S34 gene DOID:700 mitochondrial metabolism disease ISO RGD:1313761 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 9025392 Usp33 ubiquitin specific peptidase 33 gene DOID:630 genetic disease ISO RGD:1317280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025440 Plpp5 phospholipid phosphatase 5 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1607002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 9025440 Plpp5 phospholipid phosphatase 5 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1607002 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 9025440 Plpp5 phospholipid phosphatase 5 gene DOID:607 paraplegia ISO RGD:1607002 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 9025440 Plpp5 phospholipid phosphatase 5 gene DOID:630 genetic disease ISO RGD:1607002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025460 Drp2 dystrophin related protein 2 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:732671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type X PMID:23999528|PMID:25741868|PMID:26227883|PMID:29473052|PMID:31217940 9025460 Drp2 dystrophin related protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9025460 Drp2 dystrophin related protein 2 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:732671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 9025460 Drp2 dystrophin related protein 2 gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:732671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 9025460 Drp2 dystrophin related protein 2 gene DOID:12849 autistic disorder ISO RGD:732671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9025460 Drp2 dystrophin related protein 2 gene DOID:14499 Fabry disease ISO RGD:732671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 9025460 Drp2 dystrophin related protein 2 gene DOID:630 genetic disease ISO RGD:732671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9025460 Drp2 dystrophin related protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:732671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 9025460 Drp2 dystrophin related protein 2 gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:732671 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 9025490 Sfswap splicing factor SWAP gene DOID:0060041 autism spectrum disorder ISO RGD:1312773 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 9025490 Sfswap splicing factor SWAP gene DOID:630 genetic disease ISO RGD:1312773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025547 Purg purine rich element binding protein G gene DOID:5688 Werner syndrome ISO RGD:1312911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Werner syndrome 9025547 Purg purine rich element binding protein G gene DOID:630 genetic disease ISO RGD:1312911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:0050908 myelodysplastic syndrome ISO RGD:1320507 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, mononuclear cells (human) PMID:18551404|REF_RGD_ID:9835346 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:0060369 Parkinson's disease 6 ISO RGD:1320507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1320507 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1320507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1320507 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (human) PMID:24642466|REF_RGD_ID:9835343 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:1793 pancreatic cancer ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:1793 pancreatic cancer ISO RGD:1320507 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreas (human) PMID:16424023|REF_RGD_ID:9835037 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:1909 melanoma ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147557|PMID:22614916 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:1909 melanoma ISO RGD:1320507 D RGD:9068941 20200609 RGD protein:decreased expression:epidermal melanocyte (human) PMID:19147557|REF_RGD_ID:9835344 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:3312 bipolar disorder ISO RGD:1320507 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:dorsolateral prefrontal cortex (human) PMID:16687443|REF_RGD_ID:5490162 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1320507 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland (human) PMID:19066305|REF_RGD_ID:9835342 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:630 genetic disease ISO RGD:1320507 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:9000918 Disease Progression ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1320507 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22614916 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:9004547 Thyroid Neoplasms ISO RGD:1320507 D RGD:9068941 20200609 RGD protein:decreased expression:thyroid gland (human) PMID:17646383|REF_RGD_ID:9835038 9025581 Rap1gap RAP1 GTPase activating protein gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320507 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9025630 Slc22a6 solute carrier family 22 member 6 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:619572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9025630 Slc22a6 solute carrier family 22 member 6 gene DOID:1059 intellectual disability ISO RGD:619572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9025630 Slc22a6 solute carrier family 22 member 6 gene DOID:182 calcinosis ISO RGD:619572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12803500 9025630 Slc22a6 solute carrier family 22 member 6 gene DOID:630 genetic disease ISO RGD:619572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025654 Dek DEK proto-oncogene gene DOID:630 genetic disease ISO RGD:1349075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025654 Dek DEK proto-oncogene gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 9025654 Dek DEK proto-oncogene gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21291860|PMID:27811057 9025654 Dek DEK proto-oncogene gene DOID:9006205 Animal Disease Models ISO RGD:1349075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 9025654 Dek DEK proto-oncogene gene DOID:9008939 Breast Neoplasms ISO RGD:1349075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 9025655 Inhbb inhibin subunit beta B gene DOID:0050328 congenital hypothyroidism ISO RGD:2913 D RGD:9068941 20200609 RGD mRNA:decreased expression:testes (rat) PMID:7819453|REF_RGD_ID:9743921 9025655 Inhbb inhibin subunit beta B gene DOID:0111545 familial male-limited precocious puberty ISO RGD:735395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16684832 9025655 Inhbb inhibin subunit beta B gene DOID:5844 myocardial infarction ISO RGD:10810 D RGD:9068941 20230615 RGD mRNA:increased expression:myocardium (mouse) PMID:32427381|REF_RGD_ID:329849118 9025655 Inhbb inhibin subunit beta B gene DOID:630 genetic disease ISO RGD:735395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025655 Inhbb inhibin subunit beta B gene DOID:9000774 Brain Death ISO RGD:2913 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:15808645|REF_RGD_ID:9743920 9025655 Inhbb inhibin subunit beta B gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:2913 D RGD:9068941 20230427 RGD protein:increased expression:serum (rat) PMID:27732750|REF_RGD_ID:329322881 9025663 Adgrl2 adhesion G protein-coupled receptor L2 gene DOID:10907 microcephaly ISO RGD:1331928 D RGD:9068941 20200609 RGD PMID:30340542|REF_RGD_ID:13838661 9025663 Adgrl2 adhesion G protein-coupled receptor L2 gene DOID:630 genetic disease ISO RGD:732054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:12215 oligohydramnios ISO RGD:3282 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17519529|REF_RGD_ID:2292203 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:127 leiomyoma ISO RGD:736070 D RGD:9068941 20200609 RGD protein:increased expression:myometrium PMID:16294022|REF_RGD_ID:2292153 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:1591 renovascular hypertension ISO RGD:3282 D RGD:9068941 20200609 RGD mRNA:increased expression:vascular associated smooth muscle cell PMID:17439406|REF_RGD_ID:2289672 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:1612 breast cancer ISO RGD:736070 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:8619189|REF_RGD_ID:2292155 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:2224 essential thrombocythemia ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15682418 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:2526 prostate adenocarcinoma ISO RGD:736070 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:7524068|REF_RGD_ID:2292156 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:2696 Leydig cell tumor ISO RGD:736070 D RGD:9068941 20200609 RGD protein:increased expression:testis, leydig cell PMID:11994382|REF_RGD_ID:2298579 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:305 carcinoma ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:3070 high grade glioma ISO RGD:736070 D RGD:9068941 20200609 RGD in a mouse model PMID:21490965|REF_RGD_ID:13702894 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:3770 pulmonary fibrosis ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16324872 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:4989 pancreatitis ISO RGD:3282 D RGD:9068941 20200609 RGD associated with Reperfusion Injury;protein:increased expression:blood vessel PMID:16601314|REF_RGD_ID:2292161 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:630 genetic disease ISO RGD:736070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:6432 pulmonary hypertension ISO RGD:3282 D RGD:9068941 20200609 RGD PMID:8447423|REF_RGD_ID:1580847 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:850 lung disease ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20920717 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:8549 chronic ulcer of skin ISO RGD:3282 D RGD:9068941 20200609 RGD PMID:16383039|REF_RGD_ID:2292163 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9000081 Lymphatic Metastasis ISO RGD:736070 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:8619189|REF_RGD_ID:2292155 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9000998 Brain Injuries ISO RGD:3282 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex, hippocampus PMID:9645955|REF_RGD_ID:11084932 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9001600 Wounds and Injuries ISO RGD:3282 D RGD:9068941 20200609 RGD PMID:18205704|REF_RGD_ID:2292158 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9002055 Chronic Allograft Nephropathy ISO RGD:3282 D RGD:9068941 20200609 RGD PMID:11889420|REF_RGD_ID:11080974 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9002165 Diabetic Nephropathies ISO RGD:736070 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA, protein:increased expression:kidney PMID:12808179|REF_RGD_ID:2311649 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9002231 Fetal Growth Retardation ISO RGD:736070 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:11005132|REF_RGD_ID:2311066 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9003566 Mesothelioma ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11415934 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9004547 Thyroid Neoplasms ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26037280 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3282 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3282 D RGD:9068941 20220331 RGD mRNA, protein:increased expression:mammary gland (rat) PMID:12376462|REF_RGD_ID:2292404 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:736070 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:9200407|REF_RGD_ID:2298582 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9007819 Endocrine Bone Diseases ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18635661 9025702 Pdgfa platelet derived growth factor subunit A gene DOID:9008939 Breast Neoplasms ISO RGD:736070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 9025723 Vps54 VPS54 subunit of GARP complex gene DOID:0050591 tooth agenesis ISO RGD:1350552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 9025723 Vps54 VPS54 subunit of GARP complex gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1553179 D RGD:9068941 20220825 MouseDO OMIM:105400 9025723 Vps54 VPS54 subunit of GARP complex gene DOID:13137 Werdnig-Hoffmann disease ISO RGD:1553179 D RGD:9068941 20220825 MouseDO OMIM:253300 9025723 Vps54 VPS54 subunit of GARP complex gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9025723 Vps54 VPS54 subunit of GARP complex gene DOID:630 genetic disease ISO RGD:1350552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025723 Vps54 VPS54 subunit of GARP complex gene DOID:9002955 Nerve Degeneration ISO RGD:1350552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19693665 9025758 Rubcnl rubicon like autophagy enhancer gene DOID:10283 prostate cancer ISO RGD:1312654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9025758 Rubcnl rubicon like autophagy enhancer gene DOID:630 genetic disease ISO RGD:1312654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025788 Obi1 ORC ubiquitin ligase 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354147 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 9025788 Obi1 ORC ubiquitin ligase 1 gene DOID:630 genetic disease ISO RGD:1354147 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025810 Casp14 caspase 14 gene DOID:630 genetic disease ISO RGD:1323414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025810 Casp14 caspase 14 gene DOID:9001703 Autosomal Recessive Congenital Ichthyosis 12 ISO RGD:1323414 D RGD:7240710 20190315 OMIM 9025810 Casp14 caspase 14 gene DOID:9001703 Autosomal Recessive Congenital Ichthyosis 12 ISO RGD:1323414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12 PMID:25741868|PMID:27494380|PMID:28492532 9025827 Mapk15 mitogen-activated protein kinase 15 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1604966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9025827 Mapk15 mitogen-activated protein kinase 15 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1604966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9025827 Mapk15 mitogen-activated protein kinase 15 gene DOID:11054 urinary bladder cancer ISO RGD:1604966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 9025827 Mapk15 mitogen-activated protein kinase 15 gene DOID:1612 breast cancer disease_progression ISO RGD:1604966 D RGD:9068941 20200609 RGD protein:decreased expression:tumor (human) PMID:12917323|REF_RGD_ID:2304230 9025827 Mapk15 mitogen-activated protein kinase 15 gene DOID:4621 holoprosencephaly ISO RGD:1604966 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 9025827 Mapk15 mitogen-activated protein kinase 15 gene DOID:630 genetic disease ISO RGD:1604966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025858 Lrrc3b leucine rich repeat containing 3B gene DOID:630 genetic disease ISO RGD:1345434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025858 Lrrc3b leucine rich repeat containing 3B gene DOID:9000217 Stomach Neoplasms ISO RGD:1345434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18757430 9025858 Lrrc3b leucine rich repeat containing 3B gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815942 9025858 Lrrc3b leucine rich repeat containing 3B gene DOID:9008939 Breast Neoplasms ISO RGD:1345434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 9025864 Kdm5a lysine demethylase 5A gene DOID:10283 prostate cancer ISO RGD:1313452 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland (human) PMID:24200674|REF_RGD_ID:9587761 9025864 Kdm5a lysine demethylase 5A gene DOID:1059 intellectual disability ISO RGD:1313452 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33350388 9025864 Kdm5a lysine demethylase 5A gene DOID:11383 cryptorchidism ISO RGD:1305429 D RGD:9068941 20200609 RGD mRNA:increased expression:testes (rat) PMID:24679876|REF_RGD_ID:9588526 9025864 Kdm5a lysine demethylase 5A gene DOID:1612 breast cancer severity ISO RGD:1313452 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast (human) PMID:23266085|REF_RGD_ID:9586731 9025864 Kdm5a lysine demethylase 5A gene DOID:1826 epilepsy ISO RGD:1313452 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:33350388 9025864 Kdm5a lysine demethylase 5A gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:1313452 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:25162518|REF_RGD_ID:9588530 9025864 Kdm5a lysine demethylase 5A gene DOID:5517 stomach carcinoma ISO RGD:1313452 D RGD:9068941 20200609 RGD mRNA:increased expression:stomach (human) PMID:23794145|REF_RGD_ID:9588529 9025864 Kdm5a lysine demethylase 5A gene DOID:630 genetic disease ISO RGD:1313452 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025864 Kdm5a lysine demethylase 5A gene DOID:7147 ankylosing spondylitis susceptibility ISO RGD:1313452 D RGD:9068941 20200609 RGD DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) PMID:24069348|REF_RGD_ID:9588532 9025864 Kdm5a lysine demethylase 5A gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1313452 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9025864 Kdm5a lysine demethylase 5A gene DOID:986 alopecia areata ISO RGD:1313452 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 9025907 Oga O-GlcNAcase gene DOID:630 genetic disease ISO RGD:732641 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025907 Oga O-GlcNAcase gene DOID:9004009 Reperfusion Injury ISO RGD:621077 D RGD:9068941 20200609 RGD PMID:16899550|REF_RGD_ID:2305957 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:1347443 D RGD:9068941 20221028 RGD mRNA:increased expression:colorectum (human) PMID:11358845|REF_RGD_ID:155631271 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1347443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1347443 D RGD:7240710 20200527 OMIM 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1347443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 PMID:11857549|PMID:16199547|PMID:17273977|PMID:17503335|PMID:19213032|PMID:19309693|PMID:19839040|PMID:22283518|PMID:22686418|PMID:25044680|PMID:25741868|PMID:26373900|PMID:28492532|PMID:30639323 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:1059 intellectual disability ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:10629 microphthalmia ISO RGD:1347443 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:13641 exfoliation syndrome ISO RGD:1347443 D RGD:9068941 20221103 RGD mRNA:decreased expression:iris, retina (human) PMID:30986821|REF_RGD_ID:155631292 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:1682 congenital heart disease ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1347443 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:2717 Bloom syndrome ISO RGD:1347443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:5419 schizophrenia ISO RGD:1347443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:630 genetic disease ISO RGD:1347443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:850 lung disease ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1332061 D RGD:9068941 20221103 RGD associated with type 2 diabetes mellitus PMID:30096827|REF_RGD_ID:155631301 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9002049 Anophthalmia ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9002049 Anophthalmia ISO RGD:1347443 D RGD:9068941 20221103 RGD DNA:frameshift mutation, missense mutations:CDS:multiple (human) PMID:17273977|REF_RGD_ID:155631287 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9002642 Isolated Microphthalmia with Coloboma ISO RGD:1347443 D RGD:9068941 20221103 RGD DNA:missense mutation:CDS:p.G204K (human) PMID:21901792|REF_RGD_ID:155631284 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316031 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307551 D RGD:9068941 20221103 RGD protein:decreased expression:optic cup (rat) PMID:28734946|REF_RGD_ID:155631297 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316031 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:1347443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17273977 9025929 Stra6 signaling receptor and transporter of retinol STRA6 gene DOID:9256 colorectal cancer ISO RGD:1347443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9025951 Higd1b HIG1 hypoxia inducible domain family member 1B gene DOID:630 genetic disease ISO RGD:1601998 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025959 Spin1 spindlin 1 gene DOID:630 genetic disease ISO RGD:1314698 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9025974 Septin4 septin 4 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349607 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9025974 Septin4 septin 4 gene DOID:0111096 Fanconi anemia complementation group O ISO RGD:1349607 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:28492532 9025974 Septin4 septin 4 gene DOID:12217 Lewy body dementia ISO RGD:1349607 D RGD:9068941 20200609 RGD PMID:12695511|REF_RGD_ID:13504670 9025974 Septin4 septin 4 gene DOID:14330 Parkinson's disease ISO RGD:1349607 D RGD:9068941 20200609 RGD PMID:12695511|REF_RGD_ID:13504670 9025974 Septin4 septin 4 gene DOID:630 genetic disease ISO RGD:1349607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026012 Neurl2 neuralized E3 ubiquitin protein ligase 2 gene DOID:0080540 galactosialidosis ISO RGD:1315006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase 9026012 Neurl2 neuralized E3 ubiquitin protein ligase 2 gene DOID:2234 focal epilepsy ISO RGD:1315006 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9026012 Neurl2 neuralized E3 ubiquitin protein ligase 2 gene DOID:630 genetic disease ISO RGD:1315006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026012 Neurl2 neuralized E3 ubiquitin protein ligase 2 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1315006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 9026018 Taf1b TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:0080395 orofacial cleft 1 ISO RGD:1314966 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Orofacial cleft 1 PMID:25741868 9026018 Taf1b TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:0112182 mismatch repair cancer syndrome ISO RGD:1314966 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 9026018 Taf1b TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:3883 Lynch syndrome ISO RGD:1314966 D RGD:9068941 20220721 RGD DNA:mutations:cds: (human) PMID:28218421|REF_RGD_ID:153297765 9026018 Taf1b TATA-box binding protein associated factor, RNA polymerase I subunit B gene DOID:630 genetic disease ISO RGD:1314966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026041 Hirip3 HIRA interacting protein 3 gene DOID:0060019 coronin-1A deficiency ISO RGD:1315096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 9026041 Hirip3 HIRA interacting protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 9026041 Hirip3 HIRA interacting protein 3 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1315096 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 9026041 Hirip3 HIRA interacting protein 3 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1315096 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 9026041 Hirip3 HIRA interacting protein 3 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1315096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 9026041 Hirip3 HIRA interacting protein 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1315096 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 9026041 Hirip3 HIRA interacting protein 3 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1315096 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 9026041 Hirip3 HIRA interacting protein 3 gene DOID:12849 autistic disorder ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9026041 Hirip3 HIRA interacting protein 3 gene DOID:5419 schizophrenia ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9026041 Hirip3 HIRA interacting protein 3 gene DOID:630 genetic disease ISO RGD:1315096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026041 Hirip3 HIRA interacting protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9026041 Hirip3 HIRA interacting protein 3 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1315096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 9026055 Hilpda hypoxia inducible lipid droplet associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1607036 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9026055 Hilpda hypoxia inducible lipid droplet associated gene DOID:630 genetic disease ISO RGD:1607036 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026055 Hilpda hypoxia inducible lipid droplet associated gene DOID:684 hepatocellular carcinoma ISO RGD:1607036 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31142329|REF_RGD_ID:153344574 9026055 Hilpda hypoxia inducible lipid droplet associated gene DOID:684 hepatocellular carcinoma ISO RGD:1607036 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:30205391|REF_RGD_ID:153344577 9026055 Hilpda hypoxia inducible lipid droplet associated gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1607036 D RGD:9068941 20220901 RGD mRNA, protein:increased expression:liver (human) PMID:31142329|REF_RGD_ID:153344574 9026055 Hilpda hypoxia inducible lipid droplet associated gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1607036 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 9026055 Hilpda hypoxia inducible lipid droplet associated gene DOID:9005172 Lung Neoplasms ISO RGD:1607036 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 9026055 Hilpda hypoxia inducible lipid droplet associated gene DOID:9009121 lung metastasis ISO RGD:1607036 D RGD:9068941 20220901 RGD human cells in mouse model PMID:31142329|REF_RGD_ID:153344574 9026055 Hilpda hypoxia inducible lipid droplet associated gene DOID:9256 colorectal cancer ISO RGD:1607036 D RGD:9068941 20220901 RGD human cells in mouse model PMID:23916472|REF_RGD_ID:153344575 9026055 Hilpda hypoxia inducible lipid droplet associated gene DOID:9256 colorectal cancer disease_progression ISO RGD:1607036 D RGD:9068941 20220901 RGD mRNA:increased expression:colon (human) PMID:23916472|REF_RGD_ID:153344575 9026085 Mybph myosin binding protein H gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:734272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9026085 Mybph myosin binding protein H gene DOID:10763 hypertension ISO RGD:620287 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.I?T, p.R?K (rat) PMID:23460292|REF_RGD_ID:12802369 9026085 Mybph myosin binding protein H gene DOID:1540 parathyroid carcinoma ISO RGD:734272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9026085 Mybph myosin binding protein H gene DOID:630 genetic disease ISO RGD:734272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026085 Mybph myosin binding protein H gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:734272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9026085 Mybph myosin binding protein H gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9026109 Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis-1 ISO RGD:1602226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 PMID:26925868|PMID:28492532 9026109 Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1602226 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9026109 Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:14748 Sotos syndrome ISO RGD:1602226 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9026109 Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B gene DOID:630 genetic disease ISO RGD:1602226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:0050593 primary congenital glaucoma ISO RGD:736765 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma PMID:10227395|PMID:10655546|PMID:11184479|PMID:11403040|PMID:11558822|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:14507861|PMID:14635112|PMID:15037581|PMID:15255109|PMID:15342693|PMID:16384942|PMID:16735994|PMID:17224759|PMID:17363580|PMID:17563717|PMID:17591938|PMID:18227148|PMID:18414103|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19195637|PMID:19204079|PMID:19234632|PMID:19536304|PMID:20057908|PMID:20151268|PMID:20664688|PMID:20827438|PMID:21081970|PMID:21168818|PMID:21306220|PMID:21572728|PMID:21600657|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22942166|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24227805|PMID:24940937|PMID:25091052|PMID:25109919|PMID:25261878|PMID:25741868|PMID:25826643|PMID:25950505|PMID:25952714|PMID:25978063|PMID:26550445|PMID:27060699|PMID:27243976|PMID:27272408|PMID:27508083|PMID:27820421|PMID:28492532|PMID:29556725|PMID:30108387|PMID:30662834|PMID:31024815|PMID:32830442|PMID:32832252|PMID:32860008|PMID:35085548|PMID:35170016|PMID:36076309|PMID:9463332|PMID:94927261|PMID:9497261 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:0060648 anterior segment dysgenesis ISO RGD:736765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesis PMID:10655546|PMID:11403040|PMID:11527932|PMID:12036985|PMID:15342693|PMID:15475877|PMID:17591938|PMID:18470941|PMID:18622259|PMID:18852424|PMID:19179758|PMID:19234632|PMID:19643970|PMID:22004014|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24281366|PMID:24940937|PMID:25741868|PMID:26550445|PMID:27243976|PMID:27272408|PMID:27508083|PMID:27777502|PMID:27820421|PMID:28192799|PMID:28448622|PMID:28492532|PMID:30520782|PMID:32499604|PMID:32832252|PMID:9097971|PMID:9497261 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:0060673 Peters anomaly ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:10655546|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11854439|PMID:11980847|PMID:12036985|PMID:12525557|PMID:14507861|PMID:15037581|PMID:15255109|PMID:15342693|PMID:16688110|PMID:16735991|PMID:16735994|PMID:16862072|PMID:17363580|PMID:17563717|PMID:17591938|PMID:17718864|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:20198978|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22128238|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27270415|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:27820421|PMID:28384041|PMID:28448622|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30484747|PMID:30520782|PMID:30653986|PMID:30788381|PMID:31024815|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32883240|PMID:34956319|PMID:9097971|PMID:9497261 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:0080610 anterior segment dysgenesis 5 ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:10655546|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11854439|PMID:11980847|PMID:12036985|PMID:12525557|PMID:14507861|PMID:15037581|PMID:15255109|PMID:15342693|PMID:16688110|PMID:16735991|PMID:16735994|PMID:16862072|PMID:17363580|PMID:17563717|PMID:17591938|PMID:17718864|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:20198978|PMID:20664688|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22128238|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27270415|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:27820421|PMID:28384041|PMID:28448622|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30484747|PMID:30520782|PMID:30653986|PMID:30788381|PMID:31024815|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32883240|PMID:34956319|PMID:9097971|PMID:9497261 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:0080611 anterior segment dysgenesis 6 ISO RGD:736765 D RGD:7240710 20190315 OMIM 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:0080611 anterior segment dysgenesis 6 ISO RGD:736765 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 6 | ClinVar Annotator: match by term: Anterior segment dysgenesis 6, multiple subtypes PMID:10227395|PMID:10426814|PMID:10655546|PMID:10739169|PMID:10910054|PMID:11184479|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:12598442|PMID:14507861|PMID:14635112|PMID:15037581|PMID:15255109|PMID:15342693|PMID:15621878|PMID:16384942|PMID:16688110|PMID:16735991|PMID:16735994|PMID:17164573|PMID:17224759|PMID:17363580|PMID:17563717|PMID:17591938|PMID:17718864|PMID:17893647|PMID:18055790|PMID:18070520|PMID:18227148|PMID:18414103|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19195637|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19247456|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:19807744|PMID:20057908|PMID:20151268|PMID:20664688|PMID:20827438|PMID:21081970|PMID:21168818|PMID:21306220|PMID:21572728|PMID:21600657|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22878448|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:24940937|PMID:25091052|PMID:25109919|PMID:25261878|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25826643|PMID:25950505|PMID:25952714|PMID:25978063|PMID:26550445|PMID:26550974|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:2782041|PMID:27820421|PMID:28192799|PMID:28384041|PMID:28448622|PMID:28492532|PMID:28620713|PMID:28644236|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30653986|PMID:30662834|PMID:30788381|PMID:31024815|PMID:32224865|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32860008|PMID:35085548|PMID:35170016|PMID:36076309|PMID:9097971|PMID:9463332|PMID:94927261|PMID:9497261 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:0080690 RASopathy ISO RGD:736765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:0111222 centronuclear myopathy 5 ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 5 PMID:10655546|PMID:11774072|PMID:11980847|PMID:14507861|PMID:15037581|PMID:16688110|PMID:16735991|PMID:16735994|PMID:17563717|PMID:17591938|PMID:17718864|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:21081970|PMID:21168818|PMID:23028769|PMID:24033266|PMID:24123366|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25580891|PMID:25741868|PMID:25978063|PMID:26997785|PMID:27243976|PMID:27408750|PMID:27508083|PMID:27535533|PMID:28384041|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30653986|PMID:30788381|PMID:32510024 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:10603 glucose intolerance ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27036855 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:1068 juvenile glaucoma ISO RGD:736765 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:10227395|PMID:15342693|PMID:16735994|PMID:18227148|PMID:18414103|PMID:18537981|PMID:21081970|PMID:21600657|PMID:21854771|PMID:23218183|PMID:23218701|PMID:24033266|PMID:25109919|PMID:25741868|PMID:27243976|PMID:27272408|PMID:27820421|PMID:28492532|PMID:32832252|PMID:94927261|PMID:9497261 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:1070 primary open angle glaucoma ISO RGD:736765 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:10655546|PMID:15342693|PMID:18470941|PMID:19234632|PMID:22004014|PMID:24281366|PMID:25741868|PMID:26550445|PMID:27508083|PMID:27777502|PMID:28492532|PMID:30520782 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:1070 primary open angle glaucoma severity ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp:cds:p.N453S (human) PMID:16319821|REF_RGD_ID:7800664 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.P193L, p.E229K, p.M292K (human) PMID:17563717|REF_RGD_ID:7800695 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp, missense mutations, haplotype:promoter, cds:multiple (human) PMID:18055790|REF_RGD_ID:7800696 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp:cds:p.L432V (human) PMID:18483560|REF_RGD_ID:7800658 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:10763 hypertension treatment ISO RGD:2460 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:11054 urinary bladder cancer ISO RGD:736765 D RGD:9068941 20200609 RGD PMID:21990318|REF_RGD_ID:7257730 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:11211 buphthalmos ISO RGD:736765 D RGD:7240710 20180130 OMIM 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:11211 buphthalmos ISO RGD:736765 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CYP1B1-related condition | ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset PMID:10227395|PMID:10426814|PMID:10655546|PMID:10739169|PMID:10910054|PMID:11184479|PMID:11403040|PMID:11527932|PMID:11558822|PMID:11774072|PMID:11854439|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:12598442|PMID:14507861|PMID:14635112|PMID:15037581|PMID:15255109|PMID:15342693|PMID:15621878|PMID:16199547|PMID:16384942|PMID:16688110|PMID:16735991|PMID:16735994|PMID:16862072|PMID:17164573|PMID:17363580|PMID:17563717|PMID:17576681|PMID:17591938|PMID:17718864|PMID:17893647|PMID:18055790|PMID:18227148|PMID:18414103|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19195637|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19247456|PMID:19528825|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:19807744|PMID:20057908|PMID:20151268|PMID:20198978|PMID:20664688|PMID:20827438|PMID:21081970|PMID:21168818|PMID:21572728|PMID:21600657|PMID:21815720|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22128238|PMID:22878448|PMID:22942166|PMID:23028769|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24123366|PMID:24227805|PMID:24281366|PMID:24940937|PMID:25091052|PMID:25109919|PMID:25261878|PMID:25333069|PMID:25527694|PMID:25580891|PMID:25646030|PMID:25741868|PMID:25826643|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26550974|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27268095|PMID:27270415|PMID:27272408|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:2782041|PMID:27820421|PMID:28192799|PMID:28384041|PMID:28425089|PMID:28448622|PMID:28492532|PMID:28620713|PMID:28644236|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30484747|PMID:30520782|PMID:30653986|PMID:30662834|PMID:30788381|PMID:31024815|PMID:31251480|PMID:32224865|PMID:32476818|PMID:32499604|PMID:32510024|PMID:32830442|PMID:32832252|PMID:32860008|PMID:32883240|PMID:34956319|PMID:35085548|PMID:36076309|PMID:9097971|PMID:9463332|PMID:94927261|PMID:9497261|PMID:9536098 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:deletion, snp:exons:g.4339delG, p.G61E (human) PMID:20664688|REF_RGD_ID:7800680 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human) PMID:19597567|REF_RGD_ID:7800689 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple (human) PMID:23922489|REF_RGD_ID:7800657 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:11211 buphthalmos susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E387K (human) PMID:10227395|REF_RGD_ID:7800670 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:11212 hydrophthalmos ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) PMID:9097971|REF_RGD_ID:1599716 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2460 D RGD:9068941 20230831 RGD mRNA, protein:increased expression:heart (rat) PMID:19889059|REF_RGD_ID:401794453 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:12270 coloboma ISO RGD:736765 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Coloboma of eye PMID:10655546|PMID:11558822|PMID:11774072|PMID:11980847|PMID:14507861|PMID:15037581|PMID:15342693|PMID:16688110|PMID:16735991|PMID:16735994|PMID:17563717|PMID:17591938|PMID:17718864|PMID:17893647|PMID:18470941|PMID:18622259|PMID:18852424|PMID:19204079|PMID:19234632|PMID:19236111|PMID:19536304|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:21081970|PMID:21168818|PMID:21854771|PMID:22004014|PMID:23028769|PMID:24033266|PMID:24123366|PMID:24281366|PMID:25091052|PMID:25333069|PMID:25580891|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26997785|PMID:27243976|PMID:27408750|PMID:27508083|PMID:27535533|PMID:27777502|PMID:28384041|PMID:28492532|PMID:28620713|PMID:29142762|PMID:29556725|PMID:30108387|PMID:30520782|PMID:30653986|PMID:30788381|PMID:32510024|PMID:9097971|PMID:9497261 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:1612 breast cancer susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD DNA:snp:cds:p.A119S (human) PMID:10739169|REF_RGD_ID:7829734 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:1749 squamous cell carcinoma ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22114726 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:1909 melanoma ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:2773 contact dermatitis ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:3458 breast adenocarcinoma ISO RGD:2460 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary epithelium (rat) PMID:11097088|REF_RGD_ID:7829735 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:2460 D RGD:9068941 20200609 RGD protein:increased expression:esophagus (rat) PMID:18618592|REF_RGD_ID:7829715 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:3883 Lynch syndrome ISO RGD:736765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:3907 lung squamous cell carcinoma susceptibility ISO RGD:736765 D RGD:9068941 20200609 RGD Carcinoma, Squamous Cell;DNA:snp:cds:p.A119S (human) PMID:10739169|REF_RGD_ID:7829734 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:3910 lung adenocarcinoma ISO RGD:736765 D RGD:9068941 20220519 RGD protein:increased expression:lung (human) PMID:19358281|REF_RGD_ID:152177688 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2460 D RGD:9068941 20230330 RGD PMID:33389498|REF_RGD_ID:242905187 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:630 genetic disease ISO RGD:736765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:657 adenoma ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376689 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:784 chronic kidney disease ISO RGD:10439 D RGD:9068941 20230824 RGD mRNA, protein:increased expression:heart (mouse) PMID:31746392|REF_RGD_ID:401793746 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17704407 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17372243 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:2460 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9003936 Cardiomegaly ISO RGD:10439 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20805442|REF_RGD_ID:7829714 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9003936 Cardiomegaly ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:2460 D RGD:9068941 20200609 RGD associated with Hypertension PMID:20805442|REF_RGD_ID:7829714 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:2460 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9005172 Lung Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11376689 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9005369 Hepatomegaly ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27036855 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9007147 Glaucoma 3, Primary Infantile, B ISO RGD:736765 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary congenital glaucoma type 3B PMID:10227395|PMID:10426814|PMID:10739169|PMID:11403040|PMID:11527932|PMID:11774072|PMID:11980847|PMID:12036985|PMID:12372064|PMID:12525557|PMID:12598442|PMID:15037581|PMID:15342693|PMID:15621878|PMID:16384942|PMID:16735994|PMID:17164573|PMID:17563717|PMID:17591938|PMID:17893647|PMID:18055790|PMID:18227148|PMID:18414103|PMID:18470941|PMID:18537981|PMID:18622259|PMID:18852424|PMID:19234632|PMID:19247456|PMID:19597567|PMID:19643970|PMID:19744731|PMID:19793111|PMID:20151268|PMID:21081970|PMID:21572728|PMID:21600657|PMID:21850185|PMID:21854771|PMID:22004014|PMID:22942166|PMID:23218183|PMID:23218701|PMID:23922489|PMID:24033266|PMID:24227805|PMID:24281366|PMID:25091052|PMID:25109919|PMID:25527694|PMID:25646030|PMID:25741868|PMID:25950505|PMID:25978063|PMID:26550445|PMID:26550974|PMID:26997785|PMID:27060699|PMID:27243976|PMID:27272408|PMID:27777502|PMID:27820421|PMID:28448622|PMID:28492532|PMID:28644236|PMID:31024815|PMID:32224865|PMID:32476818|PMID:32499604|PMID:32832252|PMID:9097971|PMID:9463332|PMID:94927261|PMID:9497261 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9007364 Mouth Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22114726 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736765 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33814510 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20878130 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9008939 Breast Neoplasms ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037|PMID:17297925 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9452 steatotic liver disease ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27036855 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 9026129 LOC102009223 cytochrome P450 1B1 gene DOID:9970 obesity ISO RGD:736765 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27036855 9026141 Csk C-terminal Src kinase gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1318780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9026141 Csk C-terminal Src kinase gene DOID:2717 Bloom syndrome ISO RGD:1318780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9026141 Csk C-terminal Src kinase gene DOID:2723 dermatitis ISO RGD:1318781 D RGD:9068941 20200609 RGD PMID:14975240|REF_RGD_ID:5134363 9026141 Csk C-terminal Src kinase gene DOID:5419 schizophrenia ISO RGD:1318780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9026141 Csk C-terminal Src kinase gene DOID:552 pneumonia ISO RGD:1318781 D RGD:9068941 20200609 RGD PMID:14975240|REF_RGD_ID:5134363 9026141 Csk C-terminal Src kinase gene DOID:630 genetic disease ISO RGD:1318780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026141 Csk C-terminal Src kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1308800 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:9918913|REF_RGD_ID:5134372 9026141 Csk C-terminal Src kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1318780 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:9918913|REF_RGD_ID:5134372 9026141 Csk C-terminal Src kinase gene DOID:9002211 Hyperalgesia ISO RGD:1318780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16769263 9026141 Csk C-terminal Src kinase gene DOID:9002221 Hyperplasia ISO RGD:1308800 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:large intestine mucosa PMID:15961079|REF_RGD_ID:5134365 9026141 Csk C-terminal Src kinase gene DOID:9002457 Experimental Arthritis ISO RGD:1308800 D RGD:9068941 20200609 RGD PMID:10411542|REF_RGD_ID:5134371 9026141 Csk C-terminal Src kinase gene DOID:9074 systemic lupus erythematosus ISO RGD:1318780 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042117 9026141 Csk C-terminal Src kinase gene DOID:9256 colorectal cancer ISO RGD:1318780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9026163 Tmem74b transmembrane protein 74B gene DOID:630 genetic disease ISO RGD:1354046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026189 Nudt9 nudix hydrolase 9 gene DOID:630 genetic disease ISO RGD:1352650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026189 Nudt9 nudix hydrolase 9 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1352650 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 9026209 Ido2 indoleamine 2,3-dioxygenase 2 gene DOID:5082 liver cirrhosis ISO RGD:1602972 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32289347 9026209 Ido2 indoleamine 2,3-dioxygenase 2 gene DOID:630 genetic disease ISO RGD:1602972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026209 Ido2 indoleamine 2,3-dioxygenase 2 gene DOID:9005930 Endotoxemia ISO RGD:1316595 D RGD:9068941 20201022 RGD PMID:24930766|REF_RGD_ID:39939032 9026209 Ido2 indoleamine 2,3-dioxygenase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1602972 D RGD:9068941 20200910 CTD CTD Direct Evidence: marker/mechanism PMID:32289347 9026225 Smpd2 sphingomyelin phosphodiesterase 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:732430 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 9026225 Smpd2 sphingomyelin phosphodiesterase 2 gene DOID:630 genetic disease ISO RGD:732430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026268 Elovl6 ELOVL fatty acid elongase 6 gene DOID:6000 congestive heart failure ISO RGD:1345221 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26670611 9026268 Elovl6 ELOVL fatty acid elongase 6 gene DOID:630 genetic disease ISO RGD:1345221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026268 Elovl6 ELOVL fatty acid elongase 6 gene DOID:9970 obesity ISO RGD:1332205 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver: PMID:31988048|REF_RGD_ID:21403676 9026283 Ift52 intraflagellar transport 52 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1322228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:27466190|PMID:28492532|PMID:29068549 9026283 Ift52 intraflagellar transport 52 gene DOID:2234 focal epilepsy ISO RGD:1322228 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9026283 Ift52 intraflagellar transport 52 gene DOID:630 genetic disease ISO RGD:1322228 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9026283 Ift52 intraflagellar transport 52 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1322228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 9026283 Ift52 intraflagellar transport 52 gene DOID:9006222 Short-Rib Thoracic Dysplasia 16 with or without Polydactyly ISO RGD:1322228 D RGD:7240710 20190315 OMIM 9026283 Ift52 intraflagellar transport 52 gene DOID:9006222 Short-Rib Thoracic Dysplasia 16 with or without Polydactyly ISO RGD:1322228 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly PMID:25741868|PMID:26880018|PMID:27466190|PMID:28492532|PMID:30242358|PMID:31042281 9026283 Ift52 intraflagellar transport 52 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322228 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 9026321 Abcb8 ATP binding cassette subfamily B member 8 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1316973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 9026321 Abcb8 ATP binding cassette subfamily B member 8 gene DOID:2843 long QT syndrome ISO RGD:1316973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 9026321 Abcb8 ATP binding cassette subfamily B member 8 gene DOID:630 genetic disease ISO RGD:1316973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026321 Abcb8 ATP binding cassette subfamily B member 8 gene DOID:9002801 Recurrence ISO RGD:1316973 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 9026321 Abcb8 ATP binding cassette subfamily B member 8 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1316973 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35837087 9026347 P2ry13 purinergic receptor P2Y13 gene DOID:0050579 glycogen storage disease XV ISO RGD:1602708 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 9026347 P2ry13 purinergic receptor P2Y13 gene DOID:630 genetic disease ISO RGD:1602708 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026353 Rnd2 Rho family GTPase 2 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1346063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 9026353 Rnd2 Rho family GTPase 2 gene DOID:630 genetic disease ISO RGD:1346063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026361 CUNH19orf25 chromosome unknown C19orf25 homolog gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1352315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 9026361 CUNH19orf25 chromosome unknown C19orf25 homolog gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1352315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 9026361 CUNH19orf25 chromosome unknown C19orf25 homolog gene DOID:5339 cyclic hematopoiesis ISO RGD:1352315 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 9026361 CUNH19orf25 chromosome unknown C19orf25 homolog gene DOID:630 genetic disease ISO RGD:1352315 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026361 CUNH19orf25 chromosome unknown C19orf25 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352315 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9026378 Zmat1 zinc finger matrin-type 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9026378 Zmat1 zinc finger matrin-type 1 gene DOID:12849 autistic disorder ISO RGD:1345896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9026378 Zmat1 zinc finger matrin-type 1 gene DOID:630 genetic disease ISO RGD:1345896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026388 Rmc1 regulator of MON1-CCZ1 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1323450 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 9026388 Rmc1 regulator of MON1-CCZ1 gene DOID:1059 intellectual disability ISO RGD:1323450 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0050590 severe congenital neutropenia ISO RGD:1319271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:24753537|PMID:26324699|PMID:28492532|PMID:32581362 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0050590 severe congenital neutropenia disease_progression ISO RGD:1319271 D RGD:9068941 20200609 RGD PMID:16985178|REF_RGD_ID:10450485 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0050908 myelodysplastic syndrome ISO RGD:1319271 D RGD:9068941 20200609 RGD Protein:decreased expression:CD34++ cell: PMID:12670333|REF_RGD_ID:10450504 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0050908 myelodysplastic syndrome disease_progression ISO RGD:1319271 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.E785K(human) PMID:15644419|REF_RGD_ID:10450471 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0080187 chronic neutrophilic leukemia ISO RGD:1319271 D RGD:9068941 20200609 RGD PMID:24081659|REF_RGD_ID:10450482 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0080187 chronic neutrophilic leukemia ISO RGD:1319271 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.T618I(human) PMID:23604229|REF_RGD_ID:10450483 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0080188 chronic myelomonocytic leukemia disease_progression ISO RGD:1319271 D RGD:9068941 20200609 RGD DNA:mutations:multiples: PMID:23774674|REF_RGD_ID:10450469 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1319271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0090120 hereditary neutrophilia ISO RGD:1319271 D RGD:7240710 20220406 OMIM 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0090120 hereditary neutrophilia ISO RGD:1319271 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary neutrophilia PMID:12203110|PMID:19620628|PMID:24753537|PMID:25741868|PMID:26324699|PMID:28492532 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1319271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0112129 severe congenital neutropenia 7 ISO RGD:1319271 D RGD:7240710 20190315 OMIM 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:0112129 severe congenital neutropenia 7 ISO RGD:1319271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | ClinVar Annotator: match by term: Neutropenia, severe congenital, 7, autosomal recessive PMID:10449521|PMID:16199547|PMID:17576681|PMID:23604229|PMID:23634996|PMID:23656643|PMID:24033266|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24753537|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26324699|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30028820|PMID:30348809|PMID:30967555|PMID:31309983|PMID:31321910|PMID:31697825|PMID:32581362|PMID:33108454|PMID:9536098 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:1485 cystic fibrosis ISO RGD:1319271 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19293384|REF_RGD_ID:5133738 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:2226 myeloproliferative neoplasm ISO RGD:1319271 D RGD:9068941 20200609 RGD PMID:23897249|REF_RGD_ID:10450501 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:552 pneumonia ISO RGD:1319271 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1319271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:612 primary immunodeficiency disease ISO RGD:1319271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:24753537|PMID:25741868|PMID:26324699|PMID:28492532 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:630 genetic disease ISO RGD:1319271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:874 bacterial pneumonia disease_progression ISO RGD:1319272 D RGD:9068941 20200609 RGD PMID:17185469|REF_RGD_ID:5133739 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:9001039 Leukocytosis ISO RGD:1319271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19620628 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:9001473 Severe Chronic Neutropenia ISO RGD:1319272 D RGD:9068941 20200609 RGD PMID:9639496|REF_RGD_ID:10450484 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia ISO RGD:1319271 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:23604229|PMID:23634996|PMID:23656643|PMID:24081659|PMID:24403076|PMID:24614839|PMID:24854193|PMID:25491280|PMID:25741868|PMID:25932451|PMID:26875968|PMID:27148573|PMID:27581359|PMID:28209919|PMID:28219221|PMID:28492532|PMID:28762112|PMID:30967555|PMID:31697825 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1319271 D RGD:9068941 20200609 RGD PMID:24746896|REF_RGD_ID:10450468 9026414 Csf3r colony stimulating factor 3 receptor gene DOID:9119 acute myeloid leukemia susceptibility ISO RGD:1319271 D RGD:9068941 20200609 RGD associated with Severe Congenital Neutropenia;DNA:nonsense mutation:cds: PMID:9001427|REF_RGD_ID:10450487 9026452 Dmrt2 doublesex and mab-3 related transcription factor 2 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1319169 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 9026452 Dmrt2 doublesex and mab-3 related transcription factor 2 gene DOID:14447 gonadal dysgenesis ISO RGD:1319169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gonadal agenesis PMID:25741868 9026452 Dmrt2 doublesex and mab-3 related transcription factor 2 gene DOID:630 genetic disease ISO RGD:1319169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9026487 Slc25a38 solute carrier family 25 member 38 gene DOID:0060063 sideroblastic anemia 1 ISO RGD:1606272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia PMID:28492532 9026487 Slc25a38 solute carrier family 25 member 38 gene DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ISO RGD:1606272 D RGD:7240710 20180130 OMIM 9026487 Slc25a38 solute carrier family 25 member 38 gene DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 ISO RGD:1606272 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive PMID:19412178|PMID:21393332|PMID:24323989|PMID:25326635|PMID:25512395|PMID:25741868|PMID:25985931|PMID:26636621|PMID:28492532|PMID:28772256|PMID:29499877|PMID:29786897|PMID:30214775|PMID:30735661|PMID:31338833|PMID:31642437|PMID:32605921|PMID:32790119|PMID:33256393|PMID:34298585 9026487 Slc25a38 solute carrier family 25 member 38 gene DOID:630 genetic disease ISO RGD:1606272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9026487 Slc25a38 solute carrier family 25 member 38 gene DOID:8955 sideroblastic anemia ISO RGD:1606272 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19412178 9026497 Pgrmc1 progesterone receptor membrane component 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9026497 Pgrmc1 progesterone receptor membrane component 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:733484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 9026497 Pgrmc1 progesterone receptor membrane component 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:736221 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 9026497 Pgrmc1 progesterone receptor membrane component 1 gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:733484 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 9026497 Pgrmc1 progesterone receptor membrane component 1 gene DOID:10652 Alzheimer's disease ISO RGD:733484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25390692 9026497 Pgrmc1 progesterone receptor membrane component 1 gene DOID:12849 autistic disorder ISO RGD:733484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9026497 Pgrmc1 progesterone receptor membrane component 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:733484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 9026497 Pgrmc1 progesterone receptor membrane component 1 gene DOID:630 genetic disease ISO RGD:733484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026497 Pgrmc1 progesterone receptor membrane component 1 gene DOID:83 cataract ISO RGD:733484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868|PMID:33867527 9026497 Pgrmc1 progesterone receptor membrane component 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:733484 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 9026504 Znf277 zinc finger protein 277 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9026504 Znf277 zinc finger protein 277 gene DOID:5419 schizophrenia ISO RGD:1353791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9026504 Znf277 zinc finger protein 277 gene DOID:630 genetic disease ISO RGD:1353791 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026504 Znf277 zinc finger protein 277 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353791 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9026532 Pigl phosphatidylinositol glycan anchor biosynthesis class L gene DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome ISO RGD:1342664 D RGD:8554872 20230704 ClinVar ClinVar Annotator: match by term: MABRY SYNDROME 9026532 Pigl phosphatidylinositol glycan anchor biosynthesis class L gene DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 ISO RGD:1342664 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 9026532 Pigl phosphatidylinositol glycan anchor biosynthesis class L gene DOID:0112152 CHIME syndrome ISO RGD:1342664 D RGD:7240710 20180130 OMIM 9026532 Pigl phosphatidylinositol glycan anchor biosynthesis class L gene DOID:0112152 CHIME syndrome ISO RGD:1342664 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28327575|PMID:28371479|PMID:28492532|PMID:29473937|PMID:30023290|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 9026532 Pigl phosphatidylinositol glycan anchor biosynthesis class L gene DOID:630 genetic disease ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 9026532 Pigl phosphatidylinositol glycan anchor biosynthesis class L gene DOID:9003133 Hypertelorism ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 9026532 Pigl phosphatidylinositol glycan anchor biosynthesis class L gene DOID:9003507 Premature Birth ISO RGD:1342664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature birth PMID:18414213|PMID:22444671|PMID:23561846|PMID:24784135|PMID:25250048|PMID:25741868|PMID:28371479|PMID:28492532|PMID:29473937|PMID:3041916|PMID:31535386|PMID:7666399|PMID:8893234 9026568 Sympk symplekin scaffold protein gene DOID:630 genetic disease ISO RGD:1315523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026568 Sympk symplekin scaffold protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1315523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9026568 Sympk symplekin scaffold protein gene DOID:9000918 Disease Progression ISO RGD:1315523 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9026612 Pdp2 pyruvate dehyrogenase phosphatase catalytic subunit 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1603017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9026612 Pdp2 pyruvate dehyrogenase phosphatase catalytic subunit 2 gene DOID:0110255 cataract 5 multiple types ISO RGD:1603017 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 9026612 Pdp2 pyruvate dehyrogenase phosphatase catalytic subunit 2 gene DOID:10283 prostate cancer ISO RGD:1603017 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9026612 Pdp2 pyruvate dehyrogenase phosphatase catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:1603017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026612 Pdp2 pyruvate dehyrogenase phosphatase catalytic subunit 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628812 D RGD:9068941 20210219 RGD PMID:12765946|REF_RGD_ID:1582364 9026626 Fam89a family with sequence similarity 89 member A gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:1602405 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 9026626 Fam89a family with sequence similarity 89 member A gene DOID:0080600 COVID-19 ISO RGD:1602405 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9026626 Fam89a family with sequence similarity 89 member A gene DOID:1540 parathyroid carcinoma ISO RGD:1602405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9026626 Fam89a family with sequence similarity 89 member A gene DOID:630 genetic disease ISO RGD:1602405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026626 Fam89a family with sequence similarity 89 member A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9026626 Fam89a family with sequence similarity 89 member A gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1602405 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 9026626 Fam89a family with sequence similarity 89 member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9026634 Megf9 multiple EGF like domains 9 gene DOID:630 genetic disease ISO RGD:1342735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026647 Epb41l1 erythrocyte membrane protein band 4.1 like 1 gene DOID:0070041 autosomal dominant intellectual developmental disorder 11 ISO RGD:733700 D RGD:7240710 20180130 OMIM 9026647 Epb41l1 erythrocyte membrane protein band 4.1 like 1 gene DOID:0070041 autosomal dominant intellectual developmental disorder 11 ISO RGD:733700 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 11 PMID:11050113|PMID:19503082|PMID:21376300|PMID:25326635|PMID:25741868 9026647 Epb41l1 erythrocyte membrane protein band 4.1 like 1 gene DOID:1059 intellectual disability ISO RGD:733700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9026647 Epb41l1 erythrocyte membrane protein band 4.1 like 1 gene DOID:630 genetic disease ISO RGD:733700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9026698 Ipo7 importin 7 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1321989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 9026698 Ipo7 importin 7 gene DOID:630 genetic disease ISO RGD:1321989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026733 Ik IK cytokine gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1347168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 9026733 Ik IK cytokine gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9026733 Ik IK cytokine gene DOID:630 genetic disease ISO RGD:1347168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026733 Ik IK cytokine gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347168 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9026733 Ik IK cytokine gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347168 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9026766 Trpc5 transient receptor potential cation channel subfamily C member 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:733334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9026766 Trpc5 transient receptor potential cation channel subfamily C member 5 gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:733334 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:heart: PMID:16950785|REF_RGD_ID:10044019 9026766 Trpc5 transient receptor potential cation channel subfamily C member 5 gene DOID:1059 intellectual disability ISO RGD:733334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9026766 Trpc5 transient receptor potential cation channel subfamily C member 5 gene DOID:10763 hypertension ISO RGD:733334 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17351372 9026766 Trpc5 transient receptor potential cation channel subfamily C member 5 gene DOID:12849 autistic disorder ISO RGD:733334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9026766 Trpc5 transient receptor potential cation channel subfamily C member 5 gene DOID:5419 schizophrenia ISO RGD:733334 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9026766 Trpc5 transient receptor potential cation channel subfamily C member 5 gene DOID:630 genetic disease ISO RGD:733334 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9026766 Trpc5 transient receptor potential cation channel subfamily C member 5 gene DOID:9001542 Albuminuria ISO RGD:733335 D RGD:9068941 20200609 RGD PMID:24231357|REF_RGD_ID:10043830 9026785 Pdf peptide deformylase, mitochondrial gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1605961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9026785 Pdf peptide deformylase, mitochondrial gene DOID:0070260 congenital disorder of glycosylation type IIh ISO RGD:1605961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG8-CDG PMID:25741868 9026785 Pdf peptide deformylase, mitochondrial gene DOID:5212 congenital disorder of glycosylation ISO RGD:1605961 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 9026785 Pdf peptide deformylase, mitochondrial gene DOID:630 genetic disease ISO RGD:1605961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026791 Casp3 caspase 3 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 9026791 Casp3 caspase 3 gene DOID:0060108 brain glioma treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29324390|REF_RGD_ID:13792598 9026791 Casp3 caspase 3 gene DOID:0060186 chemical colitis treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:28740344|REF_RGD_ID:13782278 9026791 Casp3 caspase 3 gene DOID:0080855 Parkinsonism treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:28338241|REF_RGD_ID:13503338 9026791 Casp3 caspase 3 gene DOID:0080855 Parkinsonism treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27016191|PMID:28881616|REF_RGD_ID:13503337|REF_RGD_ID:13503339 9026791 Casp3 caspase 3 gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18288275|REF_RGD_ID:2293324 9026791 Casp3 caspase 3 gene DOID:0081292 traumatic brain injury ISO RGD:2275 D RGD:9068941 20230727 RGD protein:increased expression:cerebral cortex PMID:27614125|REF_RGD_ID:329961568 9026791 Casp3 caspase 3 gene DOID:1002 endometritis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26920733|REF_RGD_ID:13782281 9026791 Casp3 caspase 3 gene DOID:10283 prostate cancer ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:18253123|REF_RGD_ID:2293304 9026791 Casp3 caspase 3 gene DOID:104 bacterial infectious disease ISO RGD:10289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16443785|REF_RGD_ID:2311430 9026791 Casp3 caspase 3 gene DOID:10534 stomach cancer ameliorates ISO RGD:731002 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 9026791 Casp3 caspase 3 gene DOID:10534 stomach cancer treatment ISO RGD:731002 D RGD:9068941 20210625 RGD human cells in mouse model PMID:29408335|PMID:32106377|REF_RGD_ID:127284846|REF_RGD_ID:127284886 9026791 Casp3 caspase 3 gene DOID:10652 Alzheimer's disease ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18077176 9026791 Casp3 caspase 3 gene DOID:10652 Alzheimer's disease ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:10319819|PMID:12633148|REF_RGD_ID:13782269|REF_RGD_ID:734692 9026791 Casp3 caspase 3 gene DOID:10652 Alzheimer's disease treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29587274|PMID:29642617|PMID:29777699|REF_RGD_ID:13782186|REF_RGD_ID:13782188|REF_RGD_ID:13782291 9026791 Casp3 caspase 3 gene DOID:10763 hypertension ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27929425|REF_RGD_ID:13782308 9026791 Casp3 caspase 3 gene DOID:10763 hypertension treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:20065158|REF_RGD_ID:10053702 9026791 Casp3 caspase 3 gene DOID:10808 gastric ulcer treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29339218|REF_RGD_ID:13792597 9026791 Casp3 caspase 3 gene DOID:10854 salivary gland disease ISO RGD:10289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased activity:submandibular gland, acinar cell PMID:19356238|REF_RGD_ID:2311442 9026791 Casp3 caspase 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:17267327|REF_RGD_ID:2298949 9026791 Casp3 caspase 3 gene DOID:11383 cryptorchidism ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29606031|REF_RGD_ID:13792609 9026791 Casp3 caspase 3 gene DOID:11383 cryptorchidism ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 9026791 Casp3 caspase 3 gene DOID:114 heart disease ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Multiple Trauma PMID:28825094|REF_RGD_ID:13782301 9026791 Casp3 caspase 3 gene DOID:11446 sciatic neuropathy ISO RGD:2275 D RGD:9068941 20200609 RGD mRNA:increased expression:dorsal root ganglion PMID:29659443|REF_RGD_ID:13782273 9026791 Casp3 caspase 3 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 9026791 Casp3 caspase 3 gene DOID:11713 diabetic angiopathy ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 9026791 Casp3 caspase 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:18192848|REF_RGD_ID:2293330 9026791 Casp3 caspase 3 gene DOID:11996 spermatic cord torsion ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29250764|REF_RGD_ID:13782294 9026791 Casp3 caspase 3 gene DOID:12858 Huntington's disease ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:15668790|REF_RGD_ID:10413886 9026791 Casp3 caspase 3 gene DOID:12858 Huntington's disease treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:10888929|REF_RGD_ID:13432082 9026791 Casp3 caspase 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 9026791 Casp3 caspase 3 gene DOID:14330 Parkinson's disease treatment ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:16505307|REF_RGD_ID:13503345 9026791 Casp3 caspase 3 gene DOID:1612 breast cancer ISO RGD:731002 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:23979166|REF_RGD_ID:13209143 9026791 Casp3 caspase 3 gene DOID:1612 breast cancer severity ISO RGD:731002 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:18227733|REF_RGD_ID:2293092 9026791 Casp3 caspase 3 gene DOID:182 calcinosis ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 9026791 Casp3 caspase 3 gene DOID:1824 status epilepticus ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16679645|PMID:18571097 9026791 Casp3 caspase 3 gene DOID:1824 status epilepticus treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:20214503|REF_RGD_ID:10054104 9026791 Casp3 caspase 3 gene DOID:1875 impotence treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 9026791 Casp3 caspase 3 gene DOID:1936 atherosclerosis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:29213335|REF_RGD_ID:13792600 9026791 Casp3 caspase 3 gene DOID:219 colon cancer ISO RGD:731002 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:23979166|REF_RGD_ID:13209143 9026791 Casp3 caspase 3 gene DOID:219 colon cancer disease_progression ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:17805550|REF_RGD_ID:13209142 9026791 Casp3 caspase 3 gene DOID:224 transient cerebral ischemia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:21712070|REF_RGD_ID:10053706 9026791 Casp3 caspase 3 gene DOID:2316 brain ischemia ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11756504|PMID:17901229 9026791 Casp3 caspase 3 gene DOID:2671 transitional cell carcinoma ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:18172282|REF_RGD_ID:2293093 9026791 Casp3 caspase 3 gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:731002 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 9026791 Casp3 caspase 3 gene DOID:3083 chronic obstructive pulmonary disease treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28496315|REF_RGD_ID:13782303 9026791 Casp3 caspase 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity:spinal cord PMID:16847061|REF_RGD_ID:2311466 9026791 Casp3 caspase 3 gene DOID:3459 breast carcinoma disease_progression ISO RGD:731002 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12107344|REF_RGD_ID:2293309 9026791 Casp3 caspase 3 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:21891976|PMID:23143152|PMID:26868427|REF_RGD_ID:10053704|REF_RGD_ID:10054501|REF_RGD_ID:13782346 9026791 Casp3 caspase 3 gene DOID:3602 toxic encephalopathy ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21972528 9026791 Casp3 caspase 3 gene DOID:3669 intermittent claudication ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 9026791 Casp3 caspase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731002 D RGD:9068941 20200609 RGD DNA:SNP: :77G>A (human) PMID:20661084|REF_RGD_ID:13434908 9026791 Casp3 caspase 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:731002 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909 9026791 Casp3 caspase 3 gene DOID:4079 heart valve disease ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 9026791 Casp3 caspase 3 gene DOID:4362 cervical cancer ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:18177927|REF_RGD_ID:2298948 9026791 Casp3 caspase 3 gene DOID:4450 renal cell carcinoma ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:17513560|REF_RGD_ID:2293308 9026791 Casp3 caspase 3 gene DOID:4989 pancreatitis ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:16574987|REF_RGD_ID:2311467 9026791 Casp3 caspase 3 gene DOID:5082 liver cirrhosis ISO RGD:10289 D RGD:9068941 20200609 RGD associated with cholestasis PMID:29105510|REF_RGD_ID:13782297 9026791 Casp3 caspase 3 gene DOID:5199 ureteral obstruction treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29781318|REF_RGD_ID:13782341 9026791 Casp3 caspase 3 gene DOID:5295 intestinal disease ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:24228095|REF_RGD_ID:10058972 9026791 Casp3 caspase 3 gene DOID:5327 retinal detachment ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18497877 9026791 Casp3 caspase 3 gene DOID:5434 scrapie ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:27921253|REF_RGD_ID:13782156 9026791 Casp3 caspase 3 gene DOID:557 kidney disease ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29257007|REF_RGD_ID:13782293 9026791 Casp3 caspase 3 gene DOID:5679 retinal disease ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18836575|REF_RGD_ID:5490154 9026791 Casp3 caspase 3 gene DOID:5844 myocardial infarction ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25450231 9026791 Casp3 caspase 3 gene DOID:5844 myocardial infarction ameliorates ISO RGD:2275 D RGD:9068941 20230427 RGD PMID:28622474|REF_RGD_ID:329333030 9026791 Casp3 caspase 3 gene DOID:5844 myocardial infarction treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27904666|REF_RGD_ID:13782309 9026791 Casp3 caspase 3 gene DOID:6000 congestive heart failure treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29746994|REF_RGD_ID:13792577 9026791 Casp3 caspase 3 gene DOID:630 genetic disease ISO RGD:731002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026791 Casp3 caspase 3 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2275 D RGD:9068941 20220714 RGD PMID:29133031|PMID:33841550|REF_RGD_ID:13782296|REF_RGD_ID:152998960 9026791 Casp3 caspase 3 gene DOID:7693 abdominal aortic aneurysm ISO RGD:2275 D RGD:9068941 20201002 RGD protein:increased expression:aorta (rat) PMID:15238617|REF_RGD_ID:1302825 9026791 Casp3 caspase 3 gene DOID:83 cataract treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23508955|REF_RGD_ID:13782357 9026791 Casp3 caspase 3 gene DOID:8398 osteoarthritis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29138829|REF_RGD_ID:13782343 9026791 Casp3 caspase 3 gene DOID:8577 ulcerative colitis ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24055189 9026791 Casp3 caspase 3 gene DOID:863 nervous system disease ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12196588 9026791 Casp3 caspase 3 gene DOID:8947 diabetic retinopathy ISO RGD:10289 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:19013511|REF_RGD_ID:2311448 9026791 Casp3 caspase 3 gene DOID:8947 diabetic retinopathy ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina PMID:19187597|REF_RGD_ID:2311444 9026791 Casp3 caspase 3 gene DOID:8947 diabetic retinopathy ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20654064 9026791 Casp3 caspase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18378144|PMID:21748659|REF_RGD_ID:10053608|REF_RGD_ID:2293322 9026791 Casp3 caspase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14588118 9026791 Casp3 caspase 3 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27256506|PMID:27339639|REF_RGD_ID:13782345|REF_RGD_ID:13792677 9026791 Casp3 caspase 3 gene DOID:9000197 Edema ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19874808 9026791 Casp3 caspase 3 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24602480 9026791 Casp3 caspase 3 gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26163325|REF_RGD_ID:13782347 9026791 Casp3 caspase 3 gene DOID:9000469 Viral Myocarditis ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:21055654|REF_RGD_ID:13702877 9026791 Casp3 caspase 3 gene DOID:9000469 Viral Myocarditis ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:24303754|REF_RGD_ID:13702873 9026791 Casp3 caspase 3 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:27184135|PMID:27693786|PMID:29556195|REF_RGD_ID:13702867|REF_RGD_ID:13702870|REF_RGD_ID:13702871 9026791 Casp3 caspase 3 gene DOID:9000469 Viral Myocarditis treatment ISO RGD:731002 D RGD:9068941 20200609 RGD PMID:29977885|REF_RGD_ID:13702866 9026791 Casp3 caspase 3 gene DOID:9000808 Hypercholesterolemia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:24484682|REF_RGD_ID:13782354 9026791 Casp3 caspase 3 gene DOID:9000855 Experimental Radiation Injuries treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:24939579|REF_RGD_ID:13782350 9026791 Casp3 caspase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731002 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18064531|REF_RGD_ID:2293306 9026791 Casp3 caspase 3 gene DOID:9000998 Brain Injuries treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:20888848|REF_RGD_ID:10054247 9026791 Casp3 caspase 3 gene DOID:9001390 Testis Reperfusion Injury ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26754107|REF_RGD_ID:11555349 9026791 Casp3 caspase 3 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Brain Injuries, Traumatic PMID:29061477|REF_RGD_ID:13782298 9026791 Casp3 caspase 3 gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:10289 D RGD:9068941 20230525 RGD PMID:34144219|REF_RGD_ID:329812011 9026791 Casp3 caspase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased activity:kidney PMID:19601660|REF_RGD_ID:2311440 9026791 Casp3 caspase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29606028|REF_RGD_ID:13792586 9026791 Casp3 caspase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:2275 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:28456626|REF_RGD_ID:13782304 9026791 Casp3 caspase 3 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:22932950|REF_RGD_ID:10054114 9026791 Casp3 caspase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:18063461|REF_RGD_ID:2293307 9026791 Casp3 caspase 3 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:23833961|REF_RGD_ID:13702874 9026791 Casp3 caspase 3 gene DOID:9002311 Experimental Autoimmune Myocarditis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28903333|REF_RGD_ID:13702869 9026791 Casp3 caspase 3 gene DOID:9002467 Mycoplasma Infections ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20179380 9026791 Casp3 caspase 3 gene DOID:9002669 Hypoxia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18466900|REF_RGD_ID:2293315 9026791 Casp3 caspase 3 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17971790 9026791 Casp3 caspase 3 gene DOID:9002676 Cerebral Hemorrhage ameliorates ISO RGD:2275 D RGD:9068941 20230504 RGD PMID:31376096|REF_RGD_ID:329337378 9026791 Casp3 caspase 3 gene DOID:9002676 Cerebral Hemorrhage treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28096675|REF_RGD_ID:13782306 9026791 Casp3 caspase 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity, increased expression:spinal cord PMID:18521931|REF_RGD_ID:2311436 9026791 Casp3 caspase 3 gene DOID:9002909 Oxygen-Induced Retinopathy ameliorates ISO RGD:10289 D RGD:9068941 20230525 RGD PMID:35445044|REF_RGD_ID:329812014 9026791 Casp3 caspase 3 gene DOID:9002928 Colonic Neoplasms treatment ISO RGD:10289 D RGD:9068941 20200609 RGD PMID:18366456|REF_RGD_ID:13209144 9026791 Casp3 caspase 3 gene DOID:9002955 Nerve Degeneration ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14999069 9026791 Casp3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23046993|REF_RGD_ID:13782359 9026791 Casp3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity:cerebral cortex, hippocampus PMID:18603371|REF_RGD_ID:2311455 9026791 Casp3 caspase 3 gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2275 D RGD:9068941 20230128 RGD PMID:21189961|PMID:24089674|PMID:27216999|PMID:29635023|REF_RGD_ID:10054502|REF_RGD_ID:13782279|REF_RGD_ID:13782292|REF_RGD_ID:155882465 9026791 Casp3 caspase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18490106|REF_RGD_ID:2293311 9026791 Casp3 caspase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23875703 9026791 Casp3 caspase 3 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29568770|REF_RGD_ID:13792595 9026791 Casp3 caspase 3 gene DOID:9004332 Osteoarthritis, Experimental treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29621761|REF_RGD_ID:13782275 9026791 Casp3 caspase 3 gene DOID:9004484 Sepsis ISO RGD:731002 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:16003065|PMID:32062619 9026791 Casp3 caspase 3 gene DOID:9004484 Sepsis treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29180187|REF_RGD_ID:13782295 9026791 Casp3 caspase 3 gene DOID:9004590 Acute Liver Failure treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26238033|REF_RGD_ID:13782174 9026791 Casp3 caspase 3 gene DOID:9004610 Acute Lung Injury ISO RGD:731002 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:32062619 9026791 Casp3 caspase 3 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29755641|REF_RGD_ID:13782288 9026791 Casp3 caspase 3 gene DOID:9005020 Brain Contusion treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28140659|REF_RGD_ID:13782305 9026791 Casp3 caspase 3 gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 9026791 Casp3 caspase 3 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23404339|PMID:26699876|REF_RGD_ID:10053670|REF_RGD_ID:13782283 9026791 Casp3 caspase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity:hypothalamus PMID:19094082|REF_RGD_ID:2311447 9026791 Casp3 caspase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20654064 9026791 Casp3 caspase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28843149|REF_RGD_ID:13782300 9026791 Casp3 caspase 3 gene DOID:9005666 Contrast-Induced Nephropathy treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:27781957|REF_RGD_ID:13782262 9026791 Casp3 caspase 3 gene DOID:9005930 Endotoxemia ISO RGD:2275 D RGD:9068941 20200609 RGD mRNA:increased expression:diaphragm PMID:23940949|REF_RGD_ID:10054120 9026791 Casp3 caspase 3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23151253|REF_RGD_ID:10054101 9026791 Casp3 caspase 3 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 9026791 Casp3 caspase 3 gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23953793|REF_RGD_ID:10054119 9026791 Casp3 caspase 3 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:28992627|REF_RGD_ID:13782299 9026791 Casp3 caspase 3 gene DOID:9007096 Stroke ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activation:cerebral cortex PMID:18463494|REF_RGD_ID:2293316 9026791 Casp3 caspase 3 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:10289 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 9026791 Casp3 caspase 3 gene DOID:9007692 Insulin Resistance treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29748970|REF_RGD_ID:13782289 9026791 Casp3 caspase 3 gene DOID:9007730 Burns treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:22153006|REF_RGD_ID:10054126 9026791 Casp3 caspase 3 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:23946597|REF_RGD_ID:13782356 9026791 Casp3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:18470603|REF_RGD_ID:2293314 9026791 Casp3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 9026791 Casp3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:10289 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 9026791 Casp3 caspase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:29538428|REF_RGD_ID:13782276 9026791 Casp3 caspase 3 gene DOID:9008510 Chronic Hepatitis ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 9026791 Casp3 caspase 3 gene DOID:9351 diabetes mellitus ISO RGD:2275 D RGD:9068941 20201105 RGD protein:increased expression:ovary PMID:28412870|REF_RGD_ID:40400904 9026791 Casp3 caspase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 9026791 Casp3 caspase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731002 D RGD:9068941 20200609 RGD protein:increased activity:pancreatic B cell PMID:19100955|REF_RGD_ID:2311446 9026791 Casp3 caspase 3 gene DOID:9408 acute myocardial infarction treatment ISO RGD:2275 D RGD:9068941 20200609 RGD PMID:26550220|REF_RGD_ID:13782284 9026791 Casp3 caspase 3 gene DOID:9743 diabetic neuropathy ISO RGD:2275 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expresssion:sciatic nerve PMID:19555701|REF_RGD_ID:2311441 9026791 Casp3 caspase 3 gene DOID:9743 diabetic neuropathy ISO RGD:731002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12502508 9026791 Casp3 caspase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:2275 D RGD:9068941 20200609 RGD protein:increased activity:hippocampus PMID:15855338|REF_RGD_ID:2311451 9026813 Vwc2 von Willebrand factor C domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9026813 Vwc2 von Willebrand factor C domain containing 2 gene DOID:630 genetic disease ISO RGD:1603838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026843 Plaat1 phospholipase A and acyltransferase 1 gene DOID:5419 schizophrenia ISO RGD:1319850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9026843 Plaat1 phospholipase A and acyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026866 Fgfrl1 fibroblast growth factor receptor like 1 gene DOID:0050460 Wolf-Hirschhorn syndrome ISO RGD:1354107 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome PMID:25741868|PMID:28492532 9026866 Fgfrl1 fibroblast growth factor receptor like 1 gene DOID:0080600 COVID-19 ISO RGD:1354107 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9026866 Fgfrl1 fibroblast growth factor receptor like 1 gene DOID:10907 microcephaly ISO RGD:1354107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9026866 Fgfrl1 fibroblast growth factor receptor like 1 gene DOID:1856 cherubism ISO RGD:1354107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 9026866 Fgfrl1 fibroblast growth factor receptor like 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1354107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532|PMID:33443296 9026866 Fgfrl1 fibroblast growth factor receptor like 1 gene DOID:630 genetic disease ISO RGD:1354107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9026866 Fgfrl1 fibroblast growth factor receptor like 1 gene DOID:9001308 Wittwer Syndrome ISO RGD:1354107 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wittwer syndrome PMID:25741868|PMID:28492532 9026866 Fgfrl1 fibroblast growth factor receptor like 1 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1354107 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:28492532|PMID:34113002 9026866 Fgfrl1 fibroblast growth factor receptor like 1 gene DOID:9006836 Contracture ISO RGD:1354107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 9026876 Zkscan1 zinc finger with KRAB and SCAN domains 1 gene DOID:10283 prostate cancer ISO RGD:1347183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9026876 Zkscan1 zinc finger with KRAB and SCAN domains 1 gene DOID:1059 intellectual disability ISO RGD:1347183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9026876 Zkscan1 zinc finger with KRAB and SCAN domains 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347183 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9026876 Zkscan1 zinc finger with KRAB and SCAN domains 1 gene DOID:630 genetic disease ISO RGD:1347183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026891 N4bp3 NEDD4 binding protein 3 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:4145242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 9026891 N4bp3 NEDD4 binding protein 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:4145242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9026891 N4bp3 NEDD4 binding protein 3 gene DOID:14748 Sotos syndrome ISO RGD:4145242 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9026891 N4bp3 NEDD4 binding protein 3 gene DOID:2729 dyskeratosis congenita ISO RGD:4145242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9026891 N4bp3 NEDD4 binding protein 3 gene DOID:630 genetic disease ISO RGD:4145242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026903 Selenow selenoprotein W gene DOID:1826 epilepsy ISO RGD:737006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19499324 9026903 Selenow selenoprotein W gene DOID:630 genetic disease ISO RGD:737006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026903 Selenow selenoprotein W gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9026912 Ndufa7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:0080490 mucolipidosis type IV ISO RGD:1312128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 9026912 Ndufa7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:12849 autistic disorder ISO RGD:1312128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9026912 Ndufa7 NADH:ubiquinone oxidoreductase subunit A7 gene DOID:630 genetic disease ISO RGD:1312128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:25326635|PMID:25741868|PMID:28492532 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0112068 nuclear type mitochondrial complex I deficiency 5 ISO RGD:1350002 D RGD:7240710 20190315 OMIM 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0112068 nuclear type mitochondrial complex I deficiency 5 ISO RGD:1350002 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: NDUFS1-related condition PMID:11349233|PMID:15824269|PMID:19167255|PMID:20382551|PMID:20819849|PMID:21203893|PMID:21458341|PMID:22200994|PMID:22310368|PMID:25615419|PMID:25741868|PMID:28492532|PMID:33547378|PMID:34716721|PMID:35012964 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:25741868|PMID:28492532 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:11372 megacolon ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:14330 Parkinson's disease onset ISO RGD:1551403 D RGD:9068941 20200609 RGD protein:increased oxidation:brain, mitochondrion (mouse) PMID:21196577|REF_RGD_ID:6484690 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:1485 cystic fibrosis ISO RGD:1551403 D RGD:9068941 20200609 RGD protein:increased oxidation:colonic epithelium, mitochondrion (mouse) PMID:21518732|REF_RGD_ID:6484688 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:3652 Leigh disease ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:3687 MELAS syndrome ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:22499341 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:630 genetic disease ISO RGD:1350002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:655 inherited metabolic disorder ISO RGD:1350002 D RGD:9068941 20200609 RGD mitochondrial complex I deficiency, OMIM:252010, deletion:664delCAT, point mutation:D252G PMID:11349233|REF_RGD_ID:1556706 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1350002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:25741868|PMID:28492532 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9000918 Disease Progression ISO RGD:1350002 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9026929 Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1359670 D RGD:9068941 20200609 RGD PMID:21700931|REF_RGD_ID:13801200 9026957 CUNH6orf136 chromosome unknown C6orf136 homolog gene DOID:11372 megacolon ISO RGD:1348259 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9026966 Hs2st1 heparan sulfate 2-O-sulfotransferase 1 gene DOID:630 genetic disease ISO RGD:1313348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026966 Hs2st1 heparan sulfate 2-O-sulfotransferase 1 gene DOID:9003425 NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS ISO RGD:1313348 D RGD:7240710 20210317 OMIM 9026966 Hs2st1 heparan sulfate 2-O-sulfotransferase 1 gene DOID:9003425 NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS ISO RGD:1313348 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurofacioskeletal syndrome with or without renal agenesis PMID:25741868|PMID:28492532|PMID:33159882 9026989 Ciao2a cytosolic iron-sulfur assembly component 2A gene DOID:0110935 nemaline myopathy 6 ISO RGD:1602086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 9026989 Ciao2a cytosolic iron-sulfur assembly component 2A gene DOID:2717 Bloom syndrome ISO RGD:1602086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9026989 Ciao2a cytosolic iron-sulfur assembly component 2A gene DOID:630 genetic disease ISO RGD:1602086 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9026989 Ciao2a cytosolic iron-sulfur assembly component 2A gene DOID:9256 colorectal cancer ISO RGD:1602086 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9027019 Lpl lipoprotein lipase gene DOID:0050700 cardiomyopathy ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10533957 9027019 Lpl lipoprotein lipase gene DOID:0080000 muscular disease ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:7635990|REF_RGD_ID:1302535 9027019 Lpl lipoprotein lipase gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:27978932|PMID:30214514|REF_RGD_ID:13793398|REF_RGD_ID:13794377 9027019 Lpl lipoprotein lipase gene DOID:0080600 COVID-19 ISO RGD:70836 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9027019 Lpl lipoprotein lipase gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:70836 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:28492532|PMID:32041611|PMID:33303402 9027019 Lpl lipoprotein lipase gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:70836 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:28492532|PMID:32041611|PMID:33303402 9027019 Lpl lipoprotein lipase gene DOID:0110805 hereditary spastic paraplegia 53 ISO RGD:70836 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:28492532 9027019 Lpl lipoprotein lipase gene DOID:10608 celiac disease ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097691 9027019 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:24004859|REF_RGD_ID:13793392 9027019 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:SNPs: :rs268, rs328 (human) PMID:16013913|REF_RGD_ID:5685661 9027019 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:point mutations: :p.N291S, p.S447X (human) PMID:10206232|REF_RGD_ID:13799353 9027019 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:15331147|REF_RGD_ID:13793396 9027019 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease no_association ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:27897113|REF_RGD_ID:13793395 9027019 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease no_association ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:point mutations: :p.N291S, p.S447X (human) PMID:12133567|REF_RGD_ID:13793397 9027019 Lpl lipoprotein lipase gene DOID:10652 Alzheimer's disease severity ISO RGD:70836 D RGD:9068941 20200609 RGD DNA, mRNA:SNP, decreased expression: :rs285 (human) PMID:16965549|REF_RGD_ID:13793393 9027019 Lpl lipoprotein lipase gene DOID:10763 hypertension ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 9027019 Lpl lipoprotein lipase gene DOID:10763 hypertension ISO RGD:70836 D RGD:9068941 20200806 RGD PMID:16132104|REF_RGD_ID:1580535 9027019 Lpl lipoprotein lipase gene DOID:1168 familial hyperlipidemia ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17658632 9027019 Lpl lipoprotein lipase gene DOID:1168 familial hyperlipidemia ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:9920508|REF_RGD_ID:1556571 9027019 Lpl lipoprotein lipase gene DOID:1168 familial hyperlipidemia treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:29931882|REF_RGD_ID:13794383 9027019 Lpl lipoprotein lipase gene DOID:1287 cardiovascular system disease ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16544732 9027019 Lpl lipoprotein lipase gene DOID:12930 dilated cardiomyopathy ISO RGD:70836 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic PMID:28492532|PMID:32041611|PMID:33303402 9027019 Lpl lipoprotein lipase gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:14531811|REF_RGD_ID:2308781 9027019 Lpl lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:7240710 20180130 OMIM 9027019 Lpl lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10364086|PMID:10517255|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26156051|PMID:26337181|PMID:26975783|PMID:27055971|PMID:27142713|PMID:27150867|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:30150141|PMID:30210108|PMID:31589614|PMID:31619059|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:9401010|PMID:9550358|PMID:9811888 9027019 Lpl lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888 9027019 Lpl lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888 9027019 Lpl lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:19034041|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23357145|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31352695|PMID:31589614|PMID:31619059|PMID:31669931|PMID:31901151|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:34635320|PMID:35309119|PMID:35368694|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888 9027019 Lpl lipoprotein lipase gene DOID:13809 familial combined hyperlipidemia ISO RGD:70836 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to PMID:10359734|PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:19034041|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23357145|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30352774|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31352695|PMID:31589614|PMID:31619059|PMID:31669931|PMID:31901151|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:34363016|PMID:34635320|PMID:35309119|PMID:35368694|PMID:35837325|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888 9027019 Lpl lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:7240710 20180130 OMIM 9027019 Lpl lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11134145|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1530621|PMID:1562620|PMID:1576758|PMID:15840743|PMID:15877202|PMID:1598907|PMID:16174715|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:1752947|PMID:17717288|PMID:18068174|PMID:1833777|PMID:18350203|PMID:18649389|PMID:1872917|PMID:1907278|PMID:1937490|PMID:1969408|PMID:1975597|PMID:2010533|PMID:2038366|PMID:2110364|PMID:21146168|PMID:21159338|PMID:2121025|PMID:22095987|PMID:22129523|PMID:22239554|PMID:2294743|PMID:23212406|PMID:23246289|PMID:23484243|PMID:2349938|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24627108|PMID:24646025|PMID:24793350|PMID:2536938|PMID:25741868|PMID:25966443|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:27055971|PMID:27142713|PMID:27153815|PMID:27573733|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29479812|PMID:29748148|PMID:29921298|PMID:30150141|PMID:31619059|PMID:6645961|PMID:7647785|PMID:7818530|PMID:7906986|PMID:8077845|PMID:8096693|PMID:8099055|PMID:8135797|PMID:8199176|PMID:8228642|PMID:8288243|PMID:8325986|PMID:8486765|PMID:8541837|PMID:8567671|PMID:8843465|PMID:8858123|PMID:8872057|PMID:9225235|PMID:9279761|PMID:9401010|PMID:9550358|PMID:9714430|PMID:9811888 9027019 Lpl lipoprotein lipase gene DOID:14118 familial lipoprotein lipase deficiency ISO RGD:70836 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I PMID:10359734|PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11134145|PMID:11260209|PMID:11334614|PMID:11730817|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1521525|PMID:1530621|PMID:1562620|PMID:1576758|PMID:15840743|PMID:15877202|PMID:1598907|PMID:16174715|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:16431216|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:1833777|PMID:18350203|PMID:18649389|PMID:1872917|PMID:18922999|PMID:19034041|PMID:1907278|PMID:19335919|PMID:1937490|PMID:1969408|PMID:1975597|PMID:2010533|PMID:2038366|PMID:20650961|PMID:2110364|PMID:21146168|PMID:21159338|PMID:2121025|PMID:22095987|PMID:22129523|PMID:22239554|PMID:22691586|PMID:2294743|PMID:23212406|PMID:23246289|PMID:23357145|PMID:23484243|PMID:2349938|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24497850|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:2536938|PMID:25525159|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27153815|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28695157|PMID:28951076|PMID:28958672|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29479812|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30333156|PMID:30352774|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31352695|PMID:31589614|PMID:31619059|PMID:31669931|PMID:31901151|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33879184|PMID:34363016|PMID:34635320|PMID:35309119|PMID:35837325|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7818530|PMID:7906986|PMID:8077845|PMID:8096693|PMID:8099055|PMID:8135797|PMID:8199176|PMID:8228642|PMID:8288243|PMID:8325986|PMID:8486765|PMID:8541837|PMID:8567671|PMID:8732773|PMID:8808493|PMID:8843465|PMID:8858123|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9225235|PMID:9279761|PMID:9401010|PMID:9550358|PMID:9714430|PMID:9811888 9027019 Lpl lipoprotein lipase gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:26996629|REF_RGD_ID:13794382 9027019 Lpl lipoprotein lipase gene DOID:1883 hepatitis C ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17517063 9027019 Lpl lipoprotein lipase gene DOID:305 carcinoma ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9027019 Lpl lipoprotein lipase gene DOID:3393 coronary artery disease ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:8641022|REF_RGD_ID:1580537 9027019 Lpl lipoprotein lipase gene DOID:4989 pancreatitis ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18936103 9027019 Lpl lipoprotein lipase gene DOID:5844 myocardial infarction susceptibility ISO RGD:70836 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :p.D9N (rs1801177) (human) PMID:18823627|REF_RGD_ID:2313302 9027019 Lpl lipoprotein lipase gene DOID:630 genetic disease ISO RGD:70836 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10560236|PMID:10619999|PMID:12839295|PMID:18068174|PMID:19034041|PMID:22129523|PMID:22239554|PMID:24646025|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26342331|PMID:26892137|PMID:27206937|PMID:27578109|PMID:28267856|PMID:28492532|PMID:29921298|PMID:30420299|PMID:31352695|PMID:31669931|PMID:31901151|PMID:32041611|PMID:33217533|PMID:33588820|PMID:34635320|PMID:35309119|PMID:35368694 9027019 Lpl lipoprotein lipase gene DOID:783 end stage renal disease ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:22009636|REF_RGD_ID:6909179 9027019 Lpl lipoprotein lipase gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:29968701|REF_RGD_ID:13793400 9027019 Lpl lipoprotein lipase gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9027019 Lpl lipoprotein lipase gene DOID:9000528 Coronary Disease ISO RGD:70836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary heart disease PMID:10364086|PMID:10517255|PMID:21146168|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8199176|PMID:8541837|PMID:8872057 9027019 Lpl lipoprotein lipase gene DOID:9000808 Hypercholesterolemia ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21852083 9027019 Lpl lipoprotein lipase gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:28442378|REF_RGD_ID:13794376 9027019 Lpl lipoprotein lipase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9027019 Lpl lipoprotein lipase gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:16813599|REF_RGD_ID:2306755 9027019 Lpl lipoprotein lipase gene DOID:9002180 Familial Hyperchylomicronemia Syndrome ISO RGD:70836 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 PMID:10359734|PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11334614|PMID:11730817|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1562620|PMID:1576758|PMID:15877202|PMID:1598907|PMID:16174715|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:16431216|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:18649389|PMID:1872917|PMID:18922999|PMID:19034041|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22129523|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23246289|PMID:23357145|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24497850|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28695157|PMID:28951076|PMID:28958672|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30352774|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31352695|PMID:31589614|PMID:31619059|PMID:31669931|PMID:31901151|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33879184|PMID:34363016|PMID:34635320|PMID:35837325|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8843465|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9279761|PMID:9401010|PMID:9811888 9027019 Lpl lipoprotein lipase gene DOID:9002304 Prostatic Neoplasms ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15386377 9027019 Lpl lipoprotein lipase gene DOID:9002928 Colonic Neoplasms ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 9027019 Lpl lipoprotein lipase gene DOID:9003370 Dyslipidemias ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952847 9027019 Lpl lipoprotein lipase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9027019 Lpl lipoprotein lipase gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 9027019 Lpl lipoprotein lipase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:18780778|REF_RGD_ID:2313303 9027019 Lpl lipoprotein lipase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:27158912|REF_RGD_ID:13794379 9027019 Lpl lipoprotein lipase gene DOID:9005749 Necrosis ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10533957 9027019 Lpl lipoprotein lipase gene DOID:9005911 Hyperapobetalipoproteinemia ISO RGD:70836 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hyperapobetalipoproteinemia PMID:10359734|PMID:10560236|PMID:10619999|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:19034041|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23357145|PMID:23484243|PMID:2394828|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30352774|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31352695|PMID:31589614|PMID:31619059|PMID:31669931|PMID:31901151|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:34363016|PMID:34635320|PMID:35309119|PMID:35368694|PMID:35837325|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9811888 9027019 Lpl lipoprotein lipase gene DOID:9006599 Hypertriglyceridemia ISO RGD:70836 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia PMID:25741868 9027019 Lpl lipoprotein lipase gene DOID:9006599 Hypertriglyceridemia susceptibility ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:17848837|REF_RGD_ID:2313305 9027019 Lpl lipoprotein lipase gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:27071702|REF_RGD_ID:13794380 9027019 Lpl lipoprotein lipase gene DOID:9007692 Insulin Resistance ISO RGD:10876 D RGD:9068941 20200609 RGD PMID:18952837|REF_RGD_ID:2313300 9027019 Lpl lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:70836 D RGD:9068941 20200609 RGD PMID:8641022|REF_RGD_ID:1580537 9027019 Lpl lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:70836 D RGD:9068941 20200609 RGD DNA:SNP:intron:13836C>A (rs343) (human) PMID:18985010|REF_RGD_ID:2313298 9027019 Lpl lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus ISO RGD:70836 D RGD:9068941 20200609 RGD associated with Obesity PMID:18321693|REF_RGD_ID:2313304 9027019 Lpl lipoprotein lipase gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:29981201|REF_RGD_ID:13793399 9027019 Lpl lipoprotein lipase gene DOID:9970 obesity ISO RGD:10876 D RGD:9068941 20200609 RGD PMID:18952837|REF_RGD_ID:2313300 9027019 Lpl lipoprotein lipase gene DOID:9970 obesity ISO RGD:3017 D RGD:9068941 20200609 RGD mRNA:increased expression:white fat PMID:17712951|REF_RGD_ID:2313580 9027019 Lpl lipoprotein lipase gene DOID:9970 obesity ISO RGD:70836 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344982 9027019 Lpl lipoprotein lipase gene DOID:9970 obesity treatment ISO RGD:3017 D RGD:9068941 20200609 RGD PMID:27160499|PMID:28514832|REF_RGD_ID:13793401|REF_RGD_ID:13794378 9027040 Klk6 kallikrein related peptidase 6 gene DOID:10283 prostate cancer ISO RGD:736738 D RGD:9068941 20200609 RGD protein:decreased expression:prostate PMID:12970725|REF_RGD_ID:2314865 9027040 Klk6 kallikrein related peptidase 6 gene DOID:10652 Alzheimer's disease ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12074831|PMID:12480753|REF_RGD_ID:1358599|REF_RGD_ID:1358604 9027040 Klk6 kallikrein related peptidase 6 gene DOID:12217 Lewy body dementia ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12928483|REF_RGD_ID:1358597 9027040 Klk6 kallikrein related peptidase 6 gene DOID:14330 Parkinson's disease ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12928483|REF_RGD_ID:1358597 9027040 Klk6 kallikrein related peptidase 6 gene DOID:2377 multiple sclerosis ISO RGD:733840 D RGD:9068941 20200609 RGD PMID:11802715|REF_RGD_ID:2314867 9027040 Klk6 kallikrein related peptidase 6 gene DOID:2394 ovarian cancer ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:17303231|REF_RGD_ID:2314855 9027040 Klk6 kallikrein related peptidase 6 gene DOID:3213 demyelinating disease ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12023317|REF_RGD_ID:1358596 9027040 Klk6 kallikrein related peptidase 6 gene DOID:3459 breast carcinoma ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:18992199|REF_RGD_ID:2314863 9027040 Klk6 kallikrein related peptidase 6 gene DOID:4450 renal cell carcinoma ISO RGD:736738 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16340244|REF_RGD_ID:2314864 9027040 Klk6 kallikrein related peptidase 6 gene DOID:4752 multiple system atrophy ISO RGD:736738 D RGD:9068941 20200609 RGD PMID:12928483|REF_RGD_ID:1358597 9027040 Klk6 kallikrein related peptidase 6 gene DOID:630 genetic disease ISO RGD:736738 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027040 Klk6 kallikrein related peptidase 6 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3419 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:16987227|REF_RGD_ID:2314866 9027040 Klk6 kallikrein related peptidase 6 gene DOID:9000039 Spinal Cord Injuries ISO RGD:736738 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:16987227|REF_RGD_ID:2314866 9027054 Npb neuropeptide B gene DOID:11612 polycystic ovary syndrome ISO RGD:736156 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9027054 Npb neuropeptide B gene DOID:630 genetic disease ISO RGD:736156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027065 Faap20 FA core complex associated protein 20 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9027065 Faap20 FA core complex associated protein 20 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9027065 Faap20 FA core complex associated protein 20 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604208 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9027065 Faap20 FA core complex associated protein 20 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 9027065 Faap20 FA core complex associated protein 20 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 9027065 Faap20 FA core complex associated protein 20 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9027065 Faap20 FA core complex associated protein 20 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9027065 Faap20 FA core complex associated protein 20 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9027065 Faap20 FA core complex associated protein 20 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9027065 Faap20 FA core complex associated protein 20 gene DOID:630 genetic disease ISO RGD:1604208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027065 Faap20 FA core complex associated protein 20 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9027065 Faap20 FA core complex associated protein 20 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604208 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9027065 Faap20 FA core complex associated protein 20 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9027080 Septin3 septin 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736597 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9027080 Septin3 septin 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:736597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 9027080 Septin3 septin 3 gene DOID:1059 intellectual disability ISO RGD:736597 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9027080 Septin3 septin 3 gene DOID:630 genetic disease ISO RGD:736597 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027113 Zmynd19 zinc finger MYND-type containing 19 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 9027113 Zmynd19 zinc finger MYND-type containing 19 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1353400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 9027113 Zmynd19 zinc finger MYND-type containing 19 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9027113 Zmynd19 zinc finger MYND-type containing 19 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1353400 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 9027113 Zmynd19 zinc finger MYND-type containing 19 gene DOID:0081097 Rafiq syndrome ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 9027113 Zmynd19 zinc finger MYND-type containing 19 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1353400 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9027113 Zmynd19 zinc finger MYND-type containing 19 gene DOID:1826 epilepsy ISO RGD:1353400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9027113 Zmynd19 zinc finger MYND-type containing 19 gene DOID:630 genetic disease ISO RGD:1353400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027113 Zmynd19 zinc finger MYND-type containing 19 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1353400 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9027127 Tmc7 transmembrane channel like 7 gene DOID:630 genetic disease ISO RGD:1344679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:0060478 Zika fever susceptibility ISO RGD:1323217 D RGD:9068941 20210226 RGD human gene in a mouse model PMID:29746837|REF_RGD_ID:41789627 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:0060478 Zika fever susceptibility ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:28278235|REF_RGD_ID:41789631 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:0081013 severe COVID-19 ISO RGD:1323217 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:25741868|PMID:28492532|PMID:32135276 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:0111975 immunodeficiency 44 ISO RGD:1323217 D RGD:7240710 20180130 OMIM 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:0111975 immunodeficiency 44 ISO RGD:1323217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 44 PMID:16199547|PMID:17576681|PMID:23391734|PMID:24033266|PMID:25741868|PMID:26122121|PMID:28087227|PMID:28492532|PMID:32092142|PMID:32135276|PMID:33679716|PMID:9536098 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:1323218 D RGD:9068941 20210305 RGD PMID:32094187|REF_RGD_ID:42722006 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:12155 lymphocytic choriomeningitis ISO RGD:732185 D RGD:9068941 20210326 RGD PMID:24760883|REF_RGD_ID:124715479 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:12205 dengue disease susceptibility ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:21075352|PMID:21379341|REF_RGD_ID:41789625|REF_RGD_ID:41789629 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:1227 neutropenia susceptibility ISO RGD:1323217 D RGD:9068941 20210226 RGD associated with Chronic Hepatitis C;DNA:SNP:intron 5:g.4757G>T (human) PMID:19200137|REF_RGD_ID:41789633 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:1883 hepatitis C ISO RGD:1323217 D RGD:9068941 20210326 RGD protein:increased expression:liver PMID:26216956|REF_RGD_ID:11074283 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:1323217 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:3944 Arenaviridae infectious disease ameliorates ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:15723812|REF_RGD_ID:41789630 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:630 genetic disease ISO RGD:1323217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:9000371 influenza A exacerbates ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:30337919|REF_RGD_ID:41789626 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:9004009 Reperfusion Injury ISO RGD:1311649 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:17880360|REF_RGD_ID:2303397 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:9004137 Bunyaviridae Infections exacerbates ISO RGD:1323218 D RGD:9068941 20210305 RGD PMID:30814285|REF_RGD_ID:41789623 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:9004379 Vesicular Stomatitis exacerbates ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:32759968|REF_RGD_ID:41789624 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:9006262 Cytomegalovirus Infections exacerbates ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:29743368|REF_RGD_ID:41789628 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:9006806 Pseudo-TORCH Syndrome 3 ISO RGD:1323217 D RGD:7240710 20200610 OMIM 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:9006806 Pseudo-TORCH Syndrome 3 ISO RGD:1323217 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 PMID:25741868|PMID:28492532|PMID:31836668|PMID:32092142 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1323217 D RGD:9068941 20210226 RGD mRNA:decreased expression:monocyte (human) PMID:30842274|REF_RGD_ID:41789632 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:9008885 Staphylococcal Infections ameliorates ISO RGD:1323218 D RGD:9068941 20210226 RGD associated with influenza A PMID:30337919|REF_RGD_ID:41789626 9027149 Stat2 signal transducer and activator of transcription 2 gene DOID:9682 yellow fever susceptibility ISO RGD:1323218 D RGD:9068941 20210226 RGD PMID:31043530|REF_RGD_ID:41789622 9027180 Hemk1 HemK methyltransferase family member 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 9027180 Hemk1 HemK methyltransferase family member 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 9027180 Hemk1 HemK methyltransferase family member 1 gene DOID:630 genetic disease ISO RGD:1343848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027237 Nfkbil1 NFKB inhibitor like 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351897 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9027237 Nfkbil1 NFKB inhibitor like 1 gene DOID:11372 megacolon ISO RGD:1351897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9027237 Nfkbil1 NFKB inhibitor like 1 gene DOID:630 genetic disease ISO RGD:1351897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027237 Nfkbil1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1351897 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rheumatoid arthritis PMID:12509789 9027237 Nfkbil1 NFKB inhibitor like 1 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1351897 D RGD:7240710 20190329 OMIM 9027260 Ccnq cyclin Q gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1604257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9027260 Ccnq cyclin Q gene DOID:0050476 Barth syndrome ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9027260 Ccnq cyclin Q gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9027260 Ccnq cyclin Q gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1604257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 9027260 Ccnq cyclin Q gene DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome ISO RGD:1604257 D RGD:7240710 20180130 OMIM 9027260 Ccnq cyclin Q gene DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome ISO RGD:1604257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome PMID:18297069|PMID:25741868|PMID:8818947 9027260 Ccnq cyclin Q gene DOID:0112003 immunodeficiency 33 ISO RGD:1604257 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 9027260 Ccnq cyclin Q gene DOID:10588 adrenoleukodystrophy ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9027260 Ccnq cyclin Q gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9027260 Ccnq cyclin Q gene DOID:1227 neutropenia ISO RGD:1604257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532 9027260 Ccnq cyclin Q gene DOID:12849 autistic disorder ISO RGD:1604257 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9027260 Ccnq cyclin Q gene DOID:13628 favism ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 9027260 Ccnq cyclin Q gene DOID:2729 dyskeratosis congenita ISO RGD:1604257 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 9027260 Ccnq cyclin Q gene DOID:607 paraplegia ISO RGD:1604257 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9027260 Ccnq cyclin Q gene DOID:630 genetic disease ISO RGD:1604257 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027260 Ccnq cyclin Q gene DOID:9002720 Splenomegaly ISO RGD:1604257 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 9027280 Prp4k pre-mRNA processing factor kinase PRP4K gene DOID:630 genetic disease ISO RGD:1317177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027317 Kdm1a lysine demethylase 1A gene DOID:0080909 castration-resistant prostate carcinoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29581250 9027317 Kdm1a lysine demethylase 1A gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 9027317 Kdm1a lysine demethylase 1A gene DOID:1059 intellectual disability ISO RGD:1346422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9027317 Kdm1a lysine demethylase 1A gene DOID:1612 breast cancer ISO RGD:1562975 D RGD:9068941 20200609 RGD protein:increased expression:breast (rat) PMID:23516587|REF_RGD_ID:9588313 9027317 Kdm1a lysine demethylase 1A gene DOID:1612 breast cancer severity ISO RGD:1346422 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 9027317 Kdm1a lysine demethylase 1A gene DOID:1909 melanoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 9027317 Kdm1a lysine demethylase 1A gene DOID:224 transient cerebral ischemia ISO RGD:1562975 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex, hippocampus, dentate gyrus (rat) PMID:20542065|REF_RGD_ID:9588301 9027317 Kdm1a lysine demethylase 1A gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 9027317 Kdm1a lysine demethylase 1A gene DOID:5419 schizophrenia ISO RGD:1562975 D RGD:9068941 20200609 RGD protein:altered expression:prefrontal cortex (rat) PMID:23932495|REF_RGD_ID:9586022 9027317 Kdm1a lysine demethylase 1A gene DOID:630 genetic disease ISO RGD:1346422 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 9027317 Kdm1a lysine demethylase 1A gene DOID:684 hepatocellular carcinoma severity ISO RGD:1346422 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver (human) PMID:23236241|REF_RGD_ID:9681002 9027317 Kdm1a lysine demethylase 1A gene DOID:8947 diabetic retinopathy ISO RGD:1346422 D RGD:9068941 20200609 RGD mRNA:increased expression:retina (human) PMID:23423566|REF_RGD_ID:8547881 9027317 Kdm1a lysine demethylase 1A gene DOID:8947 diabetic retinopathy ISO RGD:1558503 D RGD:9068941 20200609 RGD PMID:23423566|REF_RGD_ID:8547881 9027317 Kdm1a lysine demethylase 1A gene DOID:8947 diabetic retinopathy ISO RGD:1562975 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina (rat) PMID:23423566|REF_RGD_ID:8547881 9027317 Kdm1a lysine demethylase 1A gene DOID:9000918 Disease Progression ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 9027317 Kdm1a lysine demethylase 1A gene DOID:9001445 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features ISO RGD:1346422 D RGD:7240710 20180130 OMIM 9027317 Kdm1a lysine demethylase 1A gene DOID:9001445 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features ISO RGD:1346422 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies PMID:23020937|PMID:24838796|PMID:25741868|PMID:26656649|PMID:27094131|PMID:28492532 9027317 Kdm1a lysine demethylase 1A gene DOID:9001827 Critical Illness ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 9027317 Kdm1a lysine demethylase 1A gene DOID:9002221 Hyperplasia ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 9027317 Kdm1a lysine demethylase 1A gene DOID:9002928 Colonic Neoplasms ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25043185 9027317 Kdm1a lysine demethylase 1A gene DOID:9004118 Experimental Melanoma ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29438700 9027317 Kdm1a lysine demethylase 1A gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346422 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22493729 9027317 Kdm1a lysine demethylase 1A gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346422 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9027317 Kdm1a lysine demethylase 1A gene DOID:9008086 Developmental Disabilities ISO RGD:1346422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9027317 Kdm1a lysine demethylase 1A gene DOID:986 alopecia areata ISO RGD:1346422 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:21936853|REF_RGD_ID:9587460 9027341 Nup155 nucleoporin 155 gene DOID:0060224 atrial fibrillation ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation 9027341 Nup155 nucleoporin 155 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 9027341 Nup155 nucleoporin 155 gene DOID:5426 primary ovarian insufficiency ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 9027341 Nup155 nucleoporin 155 gene DOID:630 genetic disease ISO RGD:734441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027341 Nup155 nucleoporin 155 gene DOID:9000234 Familial Atrial Fibrillation 15 ISO RGD:734441 D RGD:7240710 20180130 OMIM 9027341 Nup155 nucleoporin 155 gene DOID:9000234 Familial Atrial Fibrillation 15 ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 15 PMID:15596564|PMID:19070573|PMID:25741868 9027341 Nup155 nucleoporin 155 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9027341 Nup155 nucleoporin 155 gene DOID:9008086 Developmental Disabilities ISO RGD:734441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9027384 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310 9027384 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1320222 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 9027384 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9027384 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 9027384 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1320222 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 9027384 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1320222 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9027384 Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 gene DOID:630 genetic disease ISO RGD:1320222 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027402 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0050700 cardiomyopathy ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:18572189|PMID:19439414|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21832052|PMID:22489623|PMID:23425245|PMID:24033266|PMID:24744096|PMID:24793961|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26529187|PMID:26779504|PMID:26976709|PMID:27574918|PMID:27604170|PMID:27721798|PMID:28049727|PMID:28386062|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28533433|PMID:28771489|PMID:28798025|PMID:29253866|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30775854|PMID:30847666|PMID:31513939|PMID:32038292|PMID:32481709|PMID:32880476|PMID:33309763|PMID:33407484|PMID:33658040|PMID:35769956 9027402 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1320524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 9027402 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0110319 hypertrophic cardiomyopathy 13 ISO RGD:1320524 D RGD:7240710 20180130 OMIM 9027402 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0110319 hypertrophic cardiomyopathy 13 ISO RGD:1320524 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 13 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 13 PMID:11385718|PMID:16302972|PMID:17576681|PMID:18042489|PMID:18063575|PMID:18285522|PMID:18572189|PMID:18820258|PMID:19439414|PMID:19506933|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21832052|PMID:22489623|PMID:22815480|PMID:23008774|PMID:23425245|PMID:23633581|PMID:24033266|PMID:24260207|PMID:24744096|PMID:24793961|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26341255|PMID:26529187|PMID:26779504|PMID:26899768|PMID:26976709|PMID:27574918|PMID:27604170|PMID:27721798|PMID:28049727|PMID:28386062|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28533433|PMID:28771489|PMID:28798025|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29517769|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30188508|PMID:30384889|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31983221|PMID:32038292|PMID:32481709|PMID:32880476|PMID:32969603|PMID:33407484|PMID:33552729|PMID:33658040|PMID:34935411|PMID:35769956|PMID:36178741|PMID:9536098 9027402 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0110434 dilated cardiomyopathy 1Z ISO RGD:1320524 D RGD:7240710 20180130 OMIM 9027402 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0110434 dilated cardiomyopathy 1Z ISO RGD:1320524 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1Z PMID:11385718|PMID:15542288|PMID:16199547|PMID:16302972|PMID:17576681|PMID:17977476|PMID:18042489|PMID:18063575|PMID:18285522|PMID:18572189|PMID:18820258|PMID:19439414|PMID:19506933|PMID:19808376|PMID:20215591|PMID:20458010|PMID:20459070|PMID:21056975|PMID:21262074|PMID:21832052|PMID:22489623|PMID:22815480|PMID:23008774|PMID:23425245|PMID:23633581|PMID:23861362|PMID:24033266|PMID:24260207|PMID:24503780|PMID:24558114|PMID:24744096|PMID:24793961|PMID:25163546|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26341255|PMID:26529187|PMID:26779504|PMID:26899768|PMID:26976709|PMID:27532257|PMID:27574918|PMID:27604170|PMID:27650965|PMID:27721798|PMID:28049727|PMID:28386062|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28533433|PMID:28771489|PMID:28798025|PMID:28807990|PMID:29095814|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29255176|PMID:29517769|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30188508|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31748410|PMID:31918855|PMID:31983221|PMID:32013205|PMID:32038292|PMID:32481709|PMID:32815737|PMID:32880476|PMID:33309763|PMID:33407484|PMID:33552729|PMID:33658040|PMID:34935411|PMID:35769956|PMID:36178741|PMID:36814108|PMID:9536098 9027402 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1320524 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:18572189|PMID:19439414|PMID:20215591|PMID:20459070|PMID:21056975|PMID:21832052|PMID:24033266|PMID:24744096|PMID:25741868|PMID:27604170|PMID:28049727|PMID:28386062|PMID:28473771|PMID:28492532|PMID:28518168|PMID:28530094|PMID:28798025|PMID:29253866|PMID:30847666|PMID:32038292|PMID:33552729|PMID:34935411 9027402 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1320524 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18572189|PMID:19439414|PMID:20459070|PMID:21056975|PMID:22489623|PMID:23425245|PMID:24033266|PMID:24744096|PMID:24793961|PMID:25351510|PMID:25741868|PMID:26304555|PMID:26529187|PMID:26779504|PMID:26976709|PMID:27574918|PMID:27604170|PMID:27721798|PMID:28445763|PMID:28473771|PMID:28492532|PMID:28533433|PMID:28771489|PMID:29255176|PMID:30070845|PMID:30138628|PMID:30165862|PMID:30775854|PMID:30847666|PMID:31513939|PMID:32481709|PMID:32880476|PMID:33407484|PMID:33658040|PMID:35769956 9027402 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:12930 dilated cardiomyopathy ISO RGD:1320524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20215591|PMID:21832052|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28807990|PMID:31333075|PMID:31568572 9027402 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:630 genetic disease ISO RGD:1320524 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027402 Tnnc1 troponin C1, slow skeletal and cardiac type gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1320524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy 9027417 Atf1 activating transcription factor 1 gene DOID:0080322 polycystic kidney disease ISO RGD:1307360 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney (rat) PMID:19924104|REF_RGD_ID:2316104 9027417 Atf1 activating transcription factor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1316513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9027417 Atf1 activating transcription factor 1 gene DOID:630 genetic disease ISO RGD:1316513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027432 Ncapd2 non-SMC condensin I complex subunit D2 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1604840 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9027432 Ncapd2 non-SMC condensin I complex subunit D2 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9027432 Ncapd2 non-SMC condensin I complex subunit D2 gene DOID:0111621 Temtamy syndrome ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9027432 Ncapd2 non-SMC condensin I complex subunit D2 gene DOID:630 genetic disease ISO RGD:1604840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027432 Ncapd2 non-SMC condensin I complex subunit D2 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9027432 Ncapd2 non-SMC condensin I complex subunit D2 gene DOID:9009171 Primary Autosomal Recessive Microcephaly 21 ISO RGD:1604840 D RGD:7240710 20190315 OMIM 9027432 Ncapd2 non-SMC condensin I complex subunit D2 gene DOID:9009171 Primary Autosomal Recessive Microcephaly 21 ISO RGD:1604840 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive PMID:25741868 9027483 LOC102019383 olfactory receptor 51S1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347151 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9027483 LOC102019383 olfactory receptor 51S1 gene DOID:630 genetic disease ISO RGD:1347151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027487 LOC102020557 L-lactate dehydrogenase C chain gene DOID:0110318 hypertrophic cardiomyopathy 12 ISO RGD:1349750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:28492532 9027487 LOC102020557 L-lactate dehydrogenase C chain gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1349750 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 9027487 LOC102020557 L-lactate dehydrogenase C chain gene DOID:1059 intellectual disability ISO RGD:1349750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9027487 LOC102020557 L-lactate dehydrogenase C chain gene DOID:12336 male infertility ISO RGD:1349750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21565994|PMID:23486916 9027487 LOC102020557 L-lactate dehydrogenase C chain gene DOID:630 genetic disease ISO RGD:1349750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027487 LOC102020557 L-lactate dehydrogenase C chain gene DOID:850 lung disease ISO RGD:1349750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21602193 9027502 Sorcs1 sortilin related VPS10 domain containing receptor 1 gene DOID:0110038 Alzheimer's disease 6 ISO RGD:1314224 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Alzheimer disease 6 PMID:19241460|PMID:21280075|PMID:25741868 9027502 Sorcs1 sortilin related VPS10 domain containing receptor 1 gene DOID:10283 prostate cancer ISO RGD:1314224 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9027502 Sorcs1 sortilin related VPS10 domain containing receptor 1 gene DOID:576 proteinuria ISO RGD:1305910 D RGD:9068941 20200609 RGD associated with hypertension PMID:23780848|REF_RGD_ID:12910977 9027502 Sorcs1 sortilin related VPS10 domain containing receptor 1 gene DOID:630 genetic disease ISO RGD:1314224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027538 Rbm34 RNA binding motif protein 34 gene DOID:0081156 common variable immunodeficiency 14 ISO RGD:1602128 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 9027538 Rbm34 RNA binding motif protein 34 gene DOID:1540 parathyroid carcinoma ISO RGD:1602128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9027538 Rbm34 RNA binding motif protein 34 gene DOID:630 genetic disease ISO RGD:1602128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027538 Rbm34 RNA binding motif protein 34 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602128 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9027552 Asmtl acetylserotonin O-methyltransferase like gene DOID:12849 autistic disorder ISO RGD:1315744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9027552 Asmtl acetylserotonin O-methyltransferase like gene DOID:13938 amenorrhea ISO RGD:1315744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9027552 Asmtl acetylserotonin O-methyltransferase like gene DOID:2661 myoepithelioma ISO RGD:1315744 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9027552 Asmtl acetylserotonin O-methyltransferase like gene DOID:9119 acute myeloid leukemia ISO RGD:1315744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 9027570 Gcgr glucagon receptor gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:69010 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532|PMID:7773293|PMID:8563746 9027570 Gcgr glucagon receptor gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:69010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20529775 9027570 Gcgr glucagon receptor gene DOID:0112306 Mahvash disease ISO RGD:69010 D RGD:7240710 20210602 OMIM 9027570 Gcgr glucagon receptor gene DOID:0112306 Mahvash disease ISO RGD:69010 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GCGR-related hyperglucagonemia PMID:19657311|PMID:25695890|PMID:25741868|PMID:27933176|PMID:30032256|PMID:32785645 9027570 Gcgr glucagon receptor gene DOID:630 genetic disease ISO RGD:69010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9027570 Gcgr glucagon receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:69010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532|PMID:7773293|PMID:8563746 9027589 Tlr8 toll like receptor 8 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605396 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:11349230|PMID:16783569|PMID:18546297|PMID:23033313|PMID:27081566|PMID:28492532 9027589 Tlr8 toll like receptor 8 gene DOID:11168 anogenital venereal wart ISO RGD:1605396 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 9027589 Tlr8 toll like receptor 8 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1605396 D RGD:9068941 20200609 RGD associated with Bronchiolitis; mRNA:increased expression:nasopharynx (human) PMID:19386802|REF_RGD_ID:5129471 9027589 Tlr8 toll like receptor 8 gene DOID:12849 autistic disorder ISO RGD:1605396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9027589 Tlr8 toll like receptor 8 gene DOID:1883 hepatitis C ISO RGD:1605396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27385120 9027589 Tlr8 toll like receptor 8 gene DOID:2773 contact dermatitis ISO RGD:1605396 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9027589 Tlr8 toll like receptor 8 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1620654 D RGD:9068941 20200609 RGD mRNA:increased expression:renal glomerulus (mouse) PMID:18256364|REF_RGD_ID:7246909 9027589 Tlr8 toll like receptor 8 gene DOID:630 genetic disease ISO RGD:1605396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9027589 Tlr8 toll like receptor 8 gene DOID:718 autoimmune hemolytic anemia ISO RGD:1605396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune hemolytic anemia PMID:25741868|PMID:33512449|PMID:34981838 9027589 Tlr8 toll like receptor 8 gene DOID:8398 osteoarthritis ISO RGD:1605396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteoarthritis 9027589 Tlr8 toll like receptor 8 gene DOID:9004058 Immunodeficiency 98 with Autoinflammation, X-Linked ISO RGD:1605396 D RGD:7240710 20220427 OMIM 9027589 Tlr8 toll like receptor 8 gene DOID:9004058 Immunodeficiency 98 with Autoinflammation, X-Linked ISO RGD:1605396 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked PMID:25741868|PMID:28492532|PMID:33512449|PMID:34981838 9027589 Tlr8 toll like receptor 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9027598 Pfdn2 prefoldin subunit 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1349968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 9027598 Pfdn2 prefoldin subunit 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1349968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9027598 Pfdn2 prefoldin subunit 2 gene DOID:630 genetic disease ISO RGD:1349968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027598 Pfdn2 prefoldin subunit 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1349968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9027605 Poglut2 protein O-glucosyltransferase 2 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1312273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 9027605 Poglut2 protein O-glucosyltransferase 2 gene DOID:14701 propionic acidemia ISO RGD:1312273 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 9027605 Poglut2 protein O-glucosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1312273 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027605 Poglut2 protein O-glucosyltransferase 2 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9027605 Poglut2 protein O-glucosyltransferase 2 gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1312273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 9027629 Zfp36l1 ZFP36 ring finger protein like 1 gene DOID:0080600 COVID-19 ISO RGD:732154 D RGD:9068941 20200709 RGD mRNA:decreased expression:memory B cells (human) PMID:32377375|REF_RGD_ID:32716422 9027629 Zfp36l1 ZFP36 ring finger protein like 1 gene DOID:630 genetic disease ISO RGD:732154 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027641 Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9027641 Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1344179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9027641 Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344179 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9027641 Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:11054 urinary bladder cancer ISO RGD:1344179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26039340 9027641 Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 gene DOID:630 genetic disease ISO RGD:1344179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027686 Sphk2 sphingosine kinase 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:1317131 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23043544 9027686 Sphk2 sphingosine kinase 2 gene DOID:630 genetic disease ISO RGD:1317131 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027686 Sphk2 sphingosine kinase 2 gene DOID:9008023 Memory Disorders ISO RGD:1317131 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24859201 9027708 Mtres1 mitochondrial transcription rescue factor 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1346285 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 9027720 Xirp2 xin actin binding repeat containing 2 gene DOID:10348 blepharophimosis ISO RGD:1347436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Blepharophimosis 9027720 Xirp2 xin actin binding repeat containing 2 gene DOID:1596 depressive disorder ISO RGD:1347436 D RGD:9068941 20231109 RGD DNA:SNP:CDS:multiple (human) PMID:35642741|REF_RGD_ID:401854249 9027720 Xirp2 xin actin binding repeat containing 2 gene DOID:630 genetic disease ISO RGD:1347436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9027740 Tmed10 transmembrane p24 trafficking protein 10 gene DOID:1059 intellectual disability ISO RGD:731656 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9027740 Tmed10 transmembrane p24 trafficking protein 10 gene DOID:10652 Alzheimer's disease ISO RGD:731656 D RGD:9068941 20200609 RGD protein:decreased expression:brain cortex (human) PMID:18652896|REF_RGD_ID:2317276 9027740 Tmed10 transmembrane p24 trafficking protein 10 gene DOID:630 genetic disease ISO RGD:731656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027761 Tmem178a transmembrane protein 178A gene DOID:3883 Lynch syndrome ISO RGD:1602302 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 9027761 Tmem178a transmembrane protein 178A gene DOID:630 genetic disease ISO RGD:1602302 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027761 Tmem178a transmembrane protein 178A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1332223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9027761 Tmem178a transmembrane protein 178A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602302 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9027773 Slc41a2 solute carrier family 41 member 2 gene DOID:630 genetic disease ISO RGD:1316398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027800 Tafa5 TAFA chemokine like family member 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1342880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984751|PMID:25255310 9027800 Tafa5 TAFA chemokine like family member 5 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1342880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9027800 Tafa5 TAFA chemokine like family member 5 gene DOID:1059 intellectual disability ISO RGD:1342880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9027800 Tafa5 TAFA chemokine like family member 5 gene DOID:630 genetic disease ISO RGD:1342880 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027808 Tmed8 transmembrane p24 trafficking protein family member 8 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1347349 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 9027808 Tmed8 transmembrane p24 trafficking protein family member 8 gene DOID:630 genetic disease ISO RGD:1347349 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027818 Dnmbp dynamin binding protein gene DOID:0070354 cataract 48 ISO RGD:1349665 D RGD:7240710 20190605 OMIM 9027818 Dnmbp dynamin binding protein gene DOID:0070354 cataract 48 ISO RGD:1349665 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 48 PMID:25741868|PMID:30290152 9027818 Dnmbp dynamin binding protein gene DOID:630 genetic disease ISO RGD:1349665 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:0050581 brachydactyly ISO RGD:732217 D RGD:9068941 20200609 RGD associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) PMID:21155763|REF_RGD_ID:11072411 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:0050648 atelosteogenesis ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atelosteogenesis 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:0060576 3MC syndrome 2 ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: OSA syndrome PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8931695|PMID:9342225 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:0070300 multiple epiphyseal dysplasia 4 ISO RGD:732217 D RGD:7240710 20180130 OMIM 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:0070300 multiple epiphyseal dysplasia 4 ISO RGD:732217 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with double-layered patella PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:18553123|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:26077908|PMID:27065010|PMID:28492532|PMID:29024831|PMID:30462520|PMID:31880411|PMID:34064542|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:0080006 bone development disease ISO RGD:732217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:0080043 achondrogenesis ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achondrogenesis 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:0080055 achondrogenesis type IB ISO RGD:732217 D RGD:7240710 20180130 OMIM 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:0080055 achondrogenesis type IB ISO RGD:732217 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:17576681|PMID:18708426|PMID:18925670|PMID:19344236|PMID:19763152|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20307669|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:22406018|PMID:23369989|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:26077908|PMID:27065010|PMID:28492532|PMID:29024831|PMID:30423444|PMID:30462520|PMID:31880411|PMID:32295296|PMID:34064542|PMID:34094714|PMID:34958143|PMID:4644462|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225|PMID:9536098 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:14687 diastrophic dysplasia ISO RGD:732217 D RGD:7240710 20180130 OMIM 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:14687 diastrophic dysplasia ISO RGD:732217 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Diastrophic dwarfism | ClinVar Annotator: match by term: Diastrophic dysplasia | ClinVar Annotator: match by term: Sulfate transporter-related osteochondrodysplasia PMID:10465113|PMID:10466420|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12220459|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23369989|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:26752647|PMID:27065010|PMID:27848944|PMID:28492532|PMID:28941661|PMID:29024831|PMID:30423444|PMID:30462520|PMID:31880411|PMID:34064542|PMID:4644462|PMID:702237|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8702490|PMID:8723083|PMID:8723100|PMID:8931695|PMID:9342225 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301524|PMID:20525296|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301524|PMID:20525296|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:31880411|PMID:34064542|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:2256 osteochondrodysplasia ISO RGD:732217 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Osteochondrodysplasia PMID:11448940|PMID:15294877|PMID:20301524|PMID:28492532|PMID:30462520|PMID:8528239|PMID:8571951|PMID:8723100 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:2300 spondylolysis ISO RGD:732217 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.2286A>T(p.D673V), c.1922A>G(p.H641R),g.18654T>C(human) PMID:26077908|REF_RGD_ID:13208868 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:2742 auditory system disease ISO RGD:732217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:4667 kyphosis ISO RGD:732217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:630 genetic disease ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11565064|PMID:12525546|PMID:15294877|PMID:15316973|PMID:16642506|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:21077202|PMID:21155763|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:8571951|PMID:8931695|PMID:9342225 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:65 connective tissue disease ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:16642506|PMID:17393463|PMID:18708426|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:676 juvenile rheumatoid arthritis susceptibility ISO RGD:732217 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:17393463|REF_RGD_ID:13208931 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:9001435 Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant ISO RGD:732217 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Diastrophic dysplasia, broad bone-platyspondylic variant PMID:10466420|PMID:12220459|PMID:20301524|PMID:702237|PMID:8723083 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:9002331 Knee Osteoarthritis susceptibility ISO RGD:732217 D RGD:9068941 20200609 RGD DNA:deletion:promoter:-716_-713del4A(human) PMID:11558903|REF_RGD_ID:13208866 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:9006836 Contracture ISO RGD:732217 D RGD:9068941 20200609 RGD associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) PMID:21155763|REF_RGD_ID:11072411 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:9006897 Atelosteogenesis Type 2 ISO RGD:732217 D RGD:7240710 20180130 OMIM 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:9006897 Atelosteogenesis Type 2 ISO RGD:732217 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1 PMID:10465113|PMID:10482955|PMID:11241838|PMID:11303514|PMID:11448940|PMID:11558903|PMID:11565064|PMID:11727031|PMID:12525546|PMID:12966518|PMID:15294877|PMID:15316973|PMID:15720248|PMID:16642506|PMID:17393463|PMID:18708426|PMID:18925670|PMID:19344236|PMID:20219950|PMID:20301483|PMID:20301493|PMID:20301524|PMID:20525296|PMID:20592910|PMID:20981092|PMID:21077202|PMID:21077204|PMID:21155763|PMID:21228398|PMID:21922596|PMID:22052783|PMID:23840040|PMID:24033266|PMID:24598000|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29024831|PMID:30423444|PMID:31880411|PMID:34064542|PMID:4644462|PMID:7695699|PMID:7923357|PMID:8218237|PMID:8528239|PMID:8571951|PMID:8702127|PMID:8723100|PMID:8931695|PMID:9342225 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9027856 Slc26a2 solute carrier family 26 member 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:732217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925670 9027875 Abi2 abl interactor 2 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1353143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 9027875 Abi2 abl interactor 2 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1353143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 9027875 Abi2 abl interactor 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:1353143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 9027875 Abi2 abl interactor 2 gene DOID:630 genetic disease ISO RGD:1353143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9027875 Abi2 abl interactor 2 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1353143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 9027875 Abi2 abl interactor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9027875 Abi2 abl interactor 2 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1353143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 9027875 Abi2 abl interactor 2 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1353143 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 9027960 Ptpru protein tyrosine phosphatase receptor type U gene DOID:10763 hypertension susceptibility ISO RGD:1331918 D RGD:9068941 20200609 RGD PMID:11086029|REF_RGD_ID:1642652 9027960 Ptpru protein tyrosine phosphatase receptor type U gene DOID:10976 membranous glomerulonephritis ISO RGD:620782 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:glomerulus PMID:17457373|REF_RGD_ID:1642654 9027960 Ptpru protein tyrosine phosphatase receptor type U gene DOID:2527 nephrosis ISO RGD:620782 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:glomerulus PMID:17457373|REF_RGD_ID:1642654 9027960 Ptpru protein tyrosine phosphatase receptor type U gene DOID:630 genetic disease ISO RGD:1353626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9027960 Ptpru protein tyrosine phosphatase receptor type U gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620782 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:16539708|REF_RGD_ID:1642656 9027960 Ptpru protein tyrosine phosphatase receptor type U gene DOID:9007661 Dwarfism ISO RGD:1353626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 9028012 CUNH1orf185 chromosome unknown C1orf185 homolog gene DOID:0060224 atrial fibrillation ISO RGD:1601806 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 9028012 CUNH1orf185 chromosome unknown C1orf185 homolog gene DOID:630 genetic disease ISO RGD:1601806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028039 Adam8 ADAM metallopeptidase domain 8 gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1343050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 9028039 Adam8 ADAM metallopeptidase domain 8 gene DOID:2841 asthma ISO RGD:1320020 D RGD:9068941 20200609 RGD PMID:20194813|REF_RGD_ID:5128872 9028039 Adam8 ADAM metallopeptidase domain 8 gene DOID:2841 asthma ISO RGD:1320020 D RGD:9068941 20200609 RGD mRNA:increased expression:respiratory tract PMID:19373511|REF_RGD_ID:5128878 9028039 Adam8 ADAM metallopeptidase domain 8 gene DOID:2841 asthma severity ISO RGD:1343050 D RGD:9068941 20200609 RGD mRNA:increased expression:bronchus PMID:17339047|REF_RGD_ID:4145380 9028039 Adam8 ADAM metallopeptidase domain 8 gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:1343050 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:17979891|REF_RGD_ID:2325243 9028039 Adam8 ADAM metallopeptidase domain 8 gene DOID:630 genetic disease ISO RGD:1343050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028039 Adam8 ADAM metallopeptidase domain 8 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1320020 D RGD:9068941 20200609 RGD PMID:9670863|REF_RGD_ID:2325244 9028039 Adam8 ADAM metallopeptidase domain 8 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:1320020 D RGD:9068941 20200609 RGD PMID:9670863|REF_RGD_ID:2325244 9028039 Adam8 ADAM metallopeptidase domain 8 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1343050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24646716 9028039 Adam8 ADAM metallopeptidase domain 8 gene DOID:9498 pulmonary eosinophilia ISO RGD:1343050 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19625177|REF_RGD_ID:5128874 9028107 Kiaa1143 KIAA1143 ortholog gene DOID:630 genetic disease ISO RGD:1606528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028114 Ano6 anoctamin 6 gene DOID:0050589 inflammatory bowel disease ISO RGD:1312398 D RGD:9068941 20200609 RGD associated with Spondylitis, Ankylosing;DNA:SNP: :rs17095830(human) PMID:23308121|REF_RGD_ID:9684849 9028114 Ano6 anoctamin 6 gene DOID:0111052 Scott syndrome ISO RGD:1312398 D RGD:7240710 20180130 OMIM 9028114 Ano6 anoctamin 6 gene DOID:0111052 Scott syndrome ISO RGD:1312398 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: SCOTT SYNDROME PMID:16199547|PMID:21107324|PMID:21511967|PMID:25741868|PMID:27879994|PMID:28492532|PMID:37455884|PMID:7989579 9028114 Ano6 anoctamin 6 gene DOID:630 genetic disease ISO RGD:1312398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9028114 Ano6 anoctamin 6 gene DOID:7147 ankylosing spondylitis ISO RGD:1312398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138694 9028114 Ano6 anoctamin 6 gene DOID:7147 ankylosing spondylitis severity ISO RGD:1312398 D RGD:9068941 20200609 RGD DNA:SNP: :rs17095830(human) PMID:23308121|REF_RGD_ID:9684849 9028114 Ano6 anoctamin 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1312398 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9028138 Pde1b phosphodiesterase 1B gene DOID:0050753 cerebellar ataxia ISO RGD:735556 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 9028138 Pde1b phosphodiesterase 1B gene DOID:0080855 Parkinsonism ISO RGD:3278 D RGD:9068941 20200609 RGD PMID:15305867|REF_RGD_ID:2312524 9028138 Pde1b phosphodiesterase 1B gene DOID:630 genetic disease ISO RGD:735556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028138 Pde1b phosphodiesterase 1B gene DOID:8927 learning disability ISO RGD:735556 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12077213 9028170 Eps8l2 EPS8 signaling adaptor L2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9028170 Eps8l2 EPS8 signaling adaptor L2 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:1322090 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 9028170 Eps8l2 EPS8 signaling adaptor L2 gene DOID:0080261 autosomal recessive nonsyndromic deafness 106 ISO RGD:1322090 D RGD:7240710 20190315 OMIM 9028170 Eps8l2 EPS8 signaling adaptor L2 gene DOID:0080261 autosomal recessive nonsyndromic deafness 106 ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 106 PMID:25741868|PMID:26282398|PMID:28281779|PMID:28492532|PMID:32747562 9028170 Eps8l2 EPS8 signaling adaptor L2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1322090 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9028170 Eps8l2 EPS8 signaling adaptor L2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 9028170 Eps8l2 EPS8 signaling adaptor L2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9028170 Eps8l2 EPS8 signaling adaptor L2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9028170 Eps8l2 EPS8 signaling adaptor L2 gene DOID:630 genetic disease ISO RGD:1322090 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 9028170 Eps8l2 EPS8 signaling adaptor L2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1322090 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 9028195 Clk3 CDC like kinase 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:733625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9028195 Clk3 CDC like kinase 3 gene DOID:2717 Bloom syndrome ISO RGD:733625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9028195 Clk3 CDC like kinase 3 gene DOID:5419 schizophrenia ISO RGD:733625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9028195 Clk3 CDC like kinase 3 gene DOID:630 genetic disease ISO RGD:733625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028195 Clk3 CDC like kinase 3 gene DOID:9256 colorectal cancer ISO RGD:733625 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9028247 Pelp1 proline, glutamate and leucine rich protein 1 gene DOID:630 genetic disease ISO RGD:1604366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028247 Pelp1 proline, glutamate and leucine rich protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1604366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9028273 SOD1 superoxide dismutase 1 gene DOID:319 spinal cord disease ISO RGD:12246481 D RGD:9068941 20240323 OMIA Degenerative myelopathy PMID:12592926|PMID:18196743|PMID:19188595|PMID:19276068|PMID:20732599|PMID:21628865|PMID:21848967|PMID:22105877|PMID:22542607|PMID:23328634|PMID:23707216|PMID:23839236|PMID:23990410|PMID:24069350|PMID:24450472|PMID:24524809|PMID:24662024|PMID:26401327|PMID:26432396|PMID:27185954|PMID:27387721|PMID:27838005|PMID:27917507|PMID:27941298|PMID:30273700|PMID:31182094|PMID:31336405|PMID:31914665|PMID:32219101|PMID:32742795|PMID:33196688|PMID:33494906|PMID:34166783|PMID:34316194|PMID:34544496|PMID:34830115|PMID:35364344|PMID:35804546|PMID:36615350|PMID:36848350|PMID:37106965|PMID:37156398|PMID:37179117|PMID:37480717|PMID:37520009|PMID:37582787|PMID:37606360|PMID:37730668|PMID:38081509|PMID:38109923|PMID:8143248 9028273 Sod1 superoxide dismutase 1 gene DOID:0050700 cardiomyopathy ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:15890620|REF_RGD_ID:1581220 9028273 Sod1 superoxide dismutase 1 gene DOID:0050879 fragile X-associated tremor/ataxia syndrome ISO RGD:11329 D RGD:9068941 20200609 RGD mRNA:increased expression:prefrontal cortex, brain stem (mouse) PMID:24418349|REF_RGD_ID:8655858 9028273 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:7240710 20180130 OMIM 9028273 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:10321246|PMID:10400992|PMID:10430435|PMID:10439968|PMID:10540008|PMID:10593307|PMID:10624810|PMID:10732812|PMID:10735277|PMID:10809943|PMID:10889018|PMID:11220750|PMID:11284995|PMID:11304046|PMID:11369193|PMID:11464950|PMID:11467054|PMID:11676987|PMID:11854285|PMID:11997070|PMID:12039658|PMID:12165567|PMID:12215228|PMID:12358759|PMID:12402272|PMID:12442272|PMID:12482932|PMID:1248932|PMID:1259395|PMID:12729761|PMID:12732844|PMID:12783432|PMID:12792143|PMID:12963370|PMID:13129804|PMID:13804989|PMID:14506936|PMID:14517684|PMID:14623191|PMID:1463506|PMID:14658402|PMID:14755739|PMID:14875225|PMID:14970233|PMID:15050437|PMID:15056757|PMID:15069187|PMID:15208263|PMID:15258228|PMID:15465081|PMID:15579468|PMID:15634772|PMID:15952898|PMID:15987780|PMID:16020530|PMID:16035108|PMID:16038516|PMID:16291929|PMID:16423367|PMID:16476815|PMID:16674979|PMID:16793335|PMID:16945901|PMID:16963403|PMID:17146286|PMID:17255946|PMID:17257622|PMID:17319283|PMID:17333220|PMID:17394531|PMID:17420412|PMID:17483589|PMID:17486090|PMID:17513298|PMID:17543992|PMID:17888947|PMID:18055113|PMID:18273717|PMID:18301754|PMID:18319614|PMID:18428003|PMID:18504130|PMID:18608106|PMID:18666828|PMID:18669821|PMID:18703498|PMID:18951903|PMID:19063897|PMID:19074999|PMID:19165329|PMID:19176896|PMID:19259395|PMID:19332692|PMID:19344917|PMID:19363716|PMID:19483195|PMID:19488901|PMID:19618436|PMID:19635794|PMID:19703565|PMID:19800308|PMID:19815002|PMID:19847927|PMID:19922144|PMID:19922148|PMID:19965850|PMID:20075587|PMID:20079423|PMID:20184515|PMID:20184521|PMID:20184893|PMID:20189984|PMID:20309572|PMID:20399791|PMID:20404329|PMID:20404910|PMID:20460594|PMID:20472325|PMID:20540686|PMID:20562451|PMID:20577002|PMID:21073275|PMID:21120636|PMID:21226712|PMID:21257910|PMID:21329474|PMID:21506602|PMID:21549128|PMID:21549454|PMID:21574856|PMID:21603025|PMID:21651514|PMID:21700707|PMID:21700728|PMID:21755517|PMID:21901496|PMID:22094223|PMID:22244934|PMID:22264771|PMID:22292843|PMID:22332887|PMID:22475618|PMID:22499346|PMID:22595972|PMID:22632445|PMID:22647583|PMID:22941224|PMID:22985433|PMID:23062701|PMID:23100398|PMID:23264618|PMID:23280792|PMID:23286750|PMID:23291526|PMID:23447461|PMID:23541756|PMID:23726301|PMID:23744890|PMID:23773010|PMID:23792044|PMID:23837654|PMID:23869403|PMID:23872456|PMID:23873540|PMID:23949607|PMID:23962495|PMID:24094577|PMID:24134191|PMID:24312616|PMID:24325798|PMID:24369116|PMID:24439480|PMID:24472010|PMID:24908169|PMID:24971881|PMID:25025039|PMID:25052939|PMID:25109764|PMID:2517465|PMID:25174650|PMID:25178511|PMID:25299611|PMID:25382069|PMID:25509359|PMID:25572957|PMID:25578810|PMID:25585530|PMID:25600987|PMID:25623562|PMID:25681989|PMID:25741868|PMID:25792239|PMID:25806427|PMID:26069299|PMID:26362407|PMID:26467025|PMID:26551617|PMID:26601740|PMID:26622980|PMID:26733601|PMID:26742954|PMID:26791423|PMID:26843957|PMID:27154192|PMID:27257061|PMID:27261500|PMID:27348463|PMID:27470954|PMID:27604643|PMID:27884173|PMID:27974499|PMID:27978769|PMID:28089114|PMID:28105640|PMID:28222900|PMID:28291249|PMID:28430856|PMID:28492532|PMID:28620717|PMID:28709720|PMID:29149916|PMID:29411640|PMID:29564924|PMID:29650794|PMID:29861044|PMID:29895397|PMID:30626575|PMID:30637102|PMID:31134679|PMID:31170830|PMID:31781168|PMID:31788332|PMID:32166880|PMID:32579787|PMID:32619288|PMID:32672072|PMID:32951934|PMID:32987860|PMID:33479441|PMID:34721532|PMID:7496169|PMID:7501156|PMID:7635196|PMID:7643359|PMID:7647793|PMID:7655469|PMID:7655471|PMID:7673954|PMID:7755363|PMID:7836951|PMID:7881433|PMID:7887412|PMID:7891072|PMID:7911198|PMID:7951249|PMID:7951252|PMID:7985500|PMID:7997024|PMID:8004110|PMID:8058797|PMID:8069312|PMID:8105280|PMID:8179602|PMID:8298637|PMID:8351519|PMID:8446170|PMID:8528216|PMID:8560268|PMID:8572658|PMID:8650157|PMID:8682505|PMID:8813280|PMID:8830861|PMID:8875253|PMID:8891072|PMID:8900247|PMID:8907321|PMID:8909456|PMID:8938700|PMID:8971099|PMID:8990014|PMID:9008494|PMID:9029070|PMID:9052802|PMID:9065559|PMID:9101297|PMID:9228005|PMID:9365366|PMID:9409355 9028273 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:9455977|PMID:9556377|PMID:9743498|PMID:9817920|PMID:9857958 9028273 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:10321246|PMID:10400992|PMID:10430435|PMID:10439968|PMID:10540008|PMID:10593307|PMID:10624810|PMID:10732812|PMID:10735277|PMID:10809943|PMID:10889018|PMID:11220750|PMID:11284995|PMID:11304046|PMID:11346368|PMID:11369193|PMID:11408340|PMID:11464950|PMID:11467054|PMID:11602336|PMID:11676987|PMID:11854285|PMID:11951178|PMID:11997070|PMID:12039658|PMID:12165567|PMID:12210393|PMID:12215228|PMID:12358759|PMID:12402272|PMID:12424972|PMID:12442272|PMID:12482932|PMID:1248932|PMID:1259395|PMID:12729761|PMID:12732844|PMID:12783432|PMID:12792143|PMID:12963370|PMID:13129803|PMID:13129804|PMID:13804989|PMID:14506936|PMID:14517684|PMID:14623191|PMID:1463506|PMID:14658402|PMID:14755739|PMID:14759637|PMID:14875225|PMID:14970233|PMID:15050437|PMID:15056757|PMID:15069187|PMID:15208263|PMID:15235802|PMID:15258228|PMID:15465081|PMID:15579468|PMID:15634772|PMID:15952898|PMID:15987780|PMID:16020530|PMID:16035108|PMID:16038516|PMID:16291929|PMID:16423367|PMID:16435343|PMID:16476815|PMID:16674979|PMID:16793335|PMID:16945901|PMID:16952453|PMID:16963403|PMID:17146286|PMID:17237124|PMID:17255946|PMID:17257622|PMID:17299743|PMID:17319283|PMID:17333220|PMID:17394531|PMID:17420412|PMID:17453632|PMID:17483589|PMID:17486090|PMID:17513298|PMID:17543992|PMID:17576681|PMID:17888947|PMID:18055113|PMID:18273717|PMID:18301754|PMID:18319614|PMID:18428003|PMID:18504130|PMID:18608106|PMID:18666828|PMID:18669821|PMID:18703498|PMID:18852346|PMID:18951903|PMID:19000626|PMID:19063897|PMID:19074999|PMID:19091752|PMID:19165329|PMID:19176896|PMID:19196430|PMID:19259395|PMID:19332692|PMID:19344917|PMID:19363716|PMID:19483195|PMID:19488901|PMID:19618436|PMID:19635794|PMID:19703565|PMID:19800308|PMID:19815002|PMID:19847927|PMID:19922144|PMID:19922148|PMID:19965850|PMID:20075587|PMID:20079423|PMID:20184515|PMID:20184521|PMID:20184893|PMID:20189984|PMID:20309572|PMID:20385392|PMID:20399791|PMID:20404329|PMID:20404910|PMID:20460594|PMID:20472325|PMID:20515040|PMID:20540686|PMID:20562451|PMID:20577002|PMID:21073275|PMID:21120636|PMID:21226712|PMID:21257910|PMID:21329474|PMID:21506602|PMID:21549128|PMID:21549454|PMID:21574856|PMID:21603025|PMID:21651514|PMID:21700707|PMID:21700728|PMID:21755517|PMID:21901496|PMID:22049684|PMID:22094223|PMID:22244934|PMID:22264771|PMID:22292843|PMID:22332887|PMID:22475618|PMID:22499346|PMID:22595972|PMID:22632444|PMID:22632445|PMID:22647583|PMID:22670878|PMID:22722621|PMID:22941224|PMID:22985433|PMID:23062701|PMID:23100398|PMID:23118898|PMID:23182243|PMID:23264618|PMID:23280792|PMID:23286750|PMID:23291526|PMID:23447461|PMID:23512985|PMID:23541756|PMID:23726301|PMID:23744890|PMID:23773010|PMID:23792044|PMID:23837654|PMID:23853506|PMID:23869403|PMID:23872456|PMID:23873540|PMID:23898858|PMID:23949607|PMID:23962495|PMID:24094577|PMID:24134191|PMID:24312616|PMID:24325798|PMID:24369116|PMID:24439480|PMID:24472010|PMID:24769475|PMID:24908169|PMID:24971881|PMID:25025039|PMID:25052939|PMID:25109764|PMID:2517465|PMID:25174650|PMID:25178511|PMID:25299611|PMID:25382069|PMID:25509359|PMID:25572957|PMID:25578810|PMID:25585530|PMID:25600987|PMID:25623562|PMID:25681989|PMID:25729540|PMID:25741868|PMID:25792239|PMID:25806427|PMID:26069299|PMID:26084641|PMID:26362407|PMID:26467025|PMID:26551617|PMID:26601740|PMID:26622980|PMID:26733601|PMID:26742954|PMID:26791423|PMID:26843957|PMID:27090969|PMID:27154192|PMID:27257061|PMID:27261500|PMID:27348463|PMID:27470954|PMID:27604643|PMID:27884173|PMID:27974499|PMID:27978769|PMID:28035186|PMID:28089114|PMID:28105640|PMID:28222900|PMID:28291249|PMID:28430856|PMID:28492532|PMID:28620717|PMID:28709720|PMID:29149916|PMID:29411640|PMID:29540513|PMID:29564924|PMID:29650794|PMID:29861044|PMID:29895397|PMID:29982983|PMID:30029678|PMID:30626575|PMID:30637102|PMID:30887850|PMID:31086828|PMID:31134679|PMID:31170830|PMID:31781168|PMID:31788332|PMID:32166880|PMID:32174179|PMID:32397312|PMID:32579787|PMID:32672072|PMID:32729724|PMID:32729725|PMID:32948071|PMID:32951934|PMID:32987860|PMID:33381076|PMID:33479441|PMID:33618928|PMID:33785574 9028273 Sod1 superoxide dismutase 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:730855 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:34404558|PMID:34518333|PMID:34721532|PMID:35076740|PMID:35154965|PMID:35260199|PMID:7496169|PMID:7501156|PMID:7635196|PMID:7643359|PMID:7647793|PMID:7655469|PMID:7655471|PMID:7673954|PMID:7755363|PMID:7836951|PMID:7870076|PMID:7881433|PMID:7887412|PMID:7891072|PMID:7911198|PMID:7951249|PMID:7951252|PMID:7985500|PMID:7997024|PMID:8004110|PMID:8058797|PMID:8069312|PMID:8105280|PMID:8179602|PMID:8298637|PMID:8351519|PMID:8446170|PMID:8528216|PMID:8560268|PMID:8572658|PMID:8650157|PMID:8682505|PMID:8813280|PMID:8830861|PMID:8875253|PMID:8900247|PMID:8907321|PMID:8909456|PMID:8938700|PMID:8971099|PMID:8990014|PMID:9008494|PMID:9029070|PMID:9052802|PMID:9065559|PMID:9101297|PMID:9131652|PMID:9228005|PMID:9365366|PMID:9409355|PMID:9455977|PMID:9455983|PMID:9462467|PMID:9506558|PMID:9536098|PMID:9556377|PMID:9706719|PMID:9743498|PMID:9817920|PMID:9857958 9028273 Sod1 superoxide dismutase 1 gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:730855 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA PMID:11464950|PMID:11467054|PMID:12729761|PMID:12732844|PMID:12963370|PMID:14506936|PMID:14658402|PMID:15634772|PMID:17319283|PMID:19483195|PMID:20079423|PMID:20184515|PMID:21257910|PMID:21506602|PMID:21700707|PMID:21901496|PMID:22292843|PMID:22332887|PMID:22647583|PMID:23280792|PMID:23291526|PMID:23447461|PMID:23837654|PMID:24369116|PMID:24472010|PMID:25578810|PMID:25741868|PMID:26362407|PMID:26467025|PMID:26742954|PMID:26791423|PMID:28105640|PMID:28291249|PMID:28492532|PMID:7891072|PMID:8351519|PMID:8446170|PMID:9008494|PMID:9029070 9028273 Sod1 superoxide dismutase 1 gene DOID:0060224 atrial fibrillation ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Mitral Valve Insufficiency;mRNA, protein:increased expression:posterior wall of left atrium (human) PMID:21954878|REF_RGD_ID:8655869 9028273 Sod1 superoxide dismutase 1 gene DOID:0060319 cardiac arrest ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:15843790|REF_RGD_ID:1581221 9028273 Sod1 superoxide dismutase 1 gene DOID:0060326 myelomeningocele ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22972774 9028273 Sod1 superoxide dismutase 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:730855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 9028273 Sod1 superoxide dismutase 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:730855 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 9028273 Sod1 superoxide dismutase 1 gene DOID:0080322 polycystic kidney disease ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (rat) PMID:23006058|REF_RGD_ID:8657020 9028273 Sod1 superoxide dismutase 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis susceptibility ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:20606728|REF_RGD_ID:21076282 9028273 Sod1 superoxide dismutase 1 gene DOID:10140 dry eye syndrome ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:24168989|REF_RGD_ID:8655609 9028273 Sod1 superoxide dismutase 1 gene DOID:10140 dry eye syndrome ISO RGD:11329 D RGD:9068941 20220825 MouseDO 9028273 Sod1 superoxide dismutase 1 gene DOID:10584 retinitis pigmentosa severity ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:21736939|REF_RGD_ID:8655617 9028273 Sod1 superoxide dismutase 1 gene DOID:10584 retinitis pigmentosa severity ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:19293779|REF_RGD_ID:8158049 9028273 Sod1 superoxide dismutase 1 gene DOID:10652 Alzheimer's disease ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:22072713|REF_RGD_ID:8655610 9028273 Sod1 superoxide dismutase 1 gene DOID:10652 Alzheimer's disease ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:altered expression:hippocampus, hypothalamus (rat) PMID:20027333|REF_RGD_ID:8657017 9028273 Sod1 superoxide dismutase 1 gene DOID:10652 Alzheimer's disease ISO RGD:730855 D RGD:9068941 20200609 RGD protein:decreased expression:frontal lobe (human) PMID:22072713|REF_RGD_ID:8655610 9028273 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16864745|REF_RGD_ID:1581232 9028273 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:11329 D RGD:9068941 20200609 RGD associated with Hydronephrosis PMID:19403858|REF_RGD_ID:2312366 9028273 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:rostral ventrolateral medulla (rat) PMID:16716903|REF_RGD_ID:1580833 9028273 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:730855 D RGD:9068941 20200609 RGD protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further PMID:17198913|REF_RGD_ID:1600704 9028273 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension ISO RGD:730855 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:25101153|PMID:32165127|PMID:9024144 9028273 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension treatment ISO RGD:3731 D RGD:9068941 20230720 RGD PMID:31572179|REF_RGD_ID:329956417 9028273 Sod1 superoxide dismutase 1 gene DOID:10763 hypertension treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:16716903|REF_RGD_ID:1580833 9028273 Sod1 superoxide dismutase 1 gene DOID:11054 urinary bladder cancer ISO RGD:730855 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 9028273 Sod1 superoxide dismutase 1 gene DOID:11088 asphyxia neonatorum ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 9028273 Sod1 superoxide dismutase 1 gene DOID:11446 sciatic neuropathy severity ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model;DNA:missense mutation:cds:p.G93A (human) PMID:21489258|REF_RGD_ID:8655638 9028273 Sod1 superoxide dismutase 1 gene DOID:11446 sciatic neuropathy treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:15707675|REF_RGD_ID:8655979 9028273 Sod1 superoxide dismutase 1 gene DOID:11713 diabetic angiopathy ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16338763|REF_RGD_ID:1600708 9028273 Sod1 superoxide dismutase 1 gene DOID:11758 iron deficiency anemia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17057260 9028273 Sod1 superoxide dismutase 1 gene DOID:11823 hepatorenal syndrome ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:15531919|REF_RGD_ID:1581228 9028273 Sod1 superoxide dismutase 1 gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907800 9028273 Sod1 superoxide dismutase 1 gene DOID:12716 newborn respiratory distress syndrome susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) PMID:22574884|REF_RGD_ID:8655661 9028273 Sod1 superoxide dismutase 1 gene DOID:13025 retinopathy of prematurity susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) PMID:22958044|REF_RGD_ID:8655635 9028273 Sod1 superoxide dismutase 1 gene DOID:13241 Behcet's disease ISO RGD:730855 D RGD:9068941 20200609 RGD protein:increased activity:serum (human) PMID:12458889|REF_RGD_ID:1580846 9028273 Sod1 superoxide dismutase 1 gene DOID:13544 low tension glaucoma ISO RGD:11329 D RGD:9068941 20220825 MouseDO OMIM:606657 9028273 Sod1 superoxide dismutase 1 gene DOID:13544 low tension glaucoma ISO RGD:730855 D RGD:9068941 20200609 RGD protein:decreased expression:serum (human) PMID:21421868|REF_RGD_ID:8655579 9028273 Sod1 superoxide dismutase 1 gene DOID:14250 Down syndrome ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11181815 9028273 Sod1 superoxide dismutase 1 gene DOID:14250 Down syndrome ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:15464862|REF_RGD_ID:8655616 9028273 Sod1 superoxide dismutase 1 gene DOID:14323 Marfan syndrome ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 9028273 Sod1 superoxide dismutase 1 gene DOID:14330 Parkinson's disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15824117|PMID:16353238|PMID:21318773 9028273 Sod1 superoxide dismutase 1 gene DOID:14330 Parkinson's disease treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:16353238|REF_RGD_ID:8655933 9028273 Sod1 superoxide dismutase 1 gene DOID:1459 hypothyroidism ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal cortex (rat) PMID:21607622|REF_RGD_ID:8655989 9028273 Sod1 superoxide dismutase 1 gene DOID:1459 hypothyroidism treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:22076484|REF_RGD_ID:8655983 9028273 Sod1 superoxide dismutase 1 gene DOID:1596 depressive disorder ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19605942 9028273 Sod1 superoxide dismutase 1 gene DOID:1679 cystitis ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:26109091|REF_RGD_ID:11035303 9028273 Sod1 superoxide dismutase 1 gene DOID:1793 pancreatic cancer ISO RGD:730855 D RGD:9068941 20200609 RGD protein:decreased expression:pancreas PMID:12499913|REF_RGD_ID:2317410 9028273 Sod1 superoxide dismutase 1 gene DOID:1936 atherosclerosis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20720404 9028273 Sod1 superoxide dismutase 1 gene DOID:1936 atherosclerosis severity ISO RGD:11329 D RGD:9068941 20200609 RGD mRNA:decreased expression:thoracic aorta (mouse) PMID:20347443|REF_RGD_ID:8655856 9028273 Sod1 superoxide dismutase 1 gene DOID:224 transient cerebral ischemia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12629175|PMID:15829915|PMID:16538228|PMID:16868554 9028273 Sod1 superoxide dismutase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:17110031|REF_RGD_ID:8655986 9028273 Sod1 superoxide dismutase 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human protein in a rat model PMID:21531066|REF_RGD_ID:8655885 9028273 Sod1 superoxide dismutase 1 gene DOID:231 motor neuron disease ISO RGD:730855 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:10400992|PMID:10593307|PMID:10732812|PMID:12165567|PMID:12358759|PMID:1259395|PMID:15056757|PMID:15208263|PMID:15258228|PMID:16423367|PMID:16674979|PMID:17394531|PMID:17543992|PMID:18273717|PMID:18301754|PMID:18951903|PMID:19259395|PMID:19483195|PMID:20184521|PMID:20399791|PMID:20540686|PMID:21120636|PMID:21257910|PMID:21549128|PMID:22292843|PMID:23264618|PMID:23280792|PMID:23286750|PMID:23726301|PMID:23773010|PMID:23873540|PMID:24325798|PMID:24439480|PMID:2517465|PMID:25741868|PMID:26362407|PMID:26467025|PMID:28089114|PMID:28105640|PMID:28291249|PMID:28430856|PMID:28492532|PMID:30637102|PMID:31788332|PMID:7635196|PMID:7673954|PMID:7997024|PMID:8004110|PMID:8058797|PMID:8069312|PMID:8446170|PMID:8528216|PMID:8572658|PMID:8875253|PMID:9029070 9028273 Sod1 superoxide dismutase 1 gene DOID:2316 brain ischemia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11756504 9028273 Sod1 superoxide dismutase 1 gene DOID:2527 nephrosis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2273594 9028273 Sod1 superoxide dismutase 1 gene DOID:2773 contact dermatitis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9028273 Sod1 superoxide dismutase 1 gene DOID:2841 asthma ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 9028273 Sod1 superoxide dismutase 1 gene DOID:2972 renal artery obstruction ISO RGD:3731 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:17959751|REF_RGD_ID:8655955 9028273 Sod1 superoxide dismutase 1 gene DOID:3021 acute kidney failure ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 9028273 Sod1 superoxide dismutase 1 gene DOID:3070 high grade glioma ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11861405 9028273 Sod1 superoxide dismutase 1 gene DOID:326 ischemia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10698074 9028273 Sod1 superoxide dismutase 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730855 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease PMID:10439968|PMID:10809943|PMID:10889018|PMID:11220750|PMID:11284995|PMID:11369193|PMID:11467054|PMID:11997070|PMID:12442272|PMID:12482932|PMID:14506936|PMID:14517684|PMID:14623191|PMID:15069187|PMID:15258228|PMID:15465081|PMID:15952898|PMID:16020530|PMID:16945901|PMID:17146286|PMID:17255946|PMID:17420412|PMID:17483589|PMID:18319614|PMID:18428003|PMID:18608106|PMID:18951903|PMID:19344917|PMID:19483195|PMID:19635794|PMID:19703565|PMID:19922148|PMID:19965850|PMID:20189984|PMID:20309572|PMID:20399791|PMID:20460594|PMID:20540686|PMID:22264771|PMID:22292843|PMID:22475618|PMID:22632444|PMID:23062701|PMID:23100398|PMID:23280792|PMID:23962495|PMID:25025039|PMID:25052939|PMID:25299611|PMID:25509359|PMID:25600987|PMID:25741868|PMID:25792239|PMID:25806427|PMID:26362407|PMID:26467025|PMID:26742954|PMID:27348463|PMID:28105640|PMID:28430856|PMID:28492532|PMID:29411640|PMID:29861044|PMID:30637102|PMID:31788332|PMID:7647793|PMID:7655469|PMID:7836951|PMID:8298637|PMID:8813280|PMID:8875253|PMID:8909456|PMID:9365366|PMID:9817920 9028273 Sod1 superoxide dismutase 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:26826269|REF_RGD_ID:13524551 9028273 Sod1 superoxide dismutase 1 gene DOID:3393 coronary artery disease ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:16338763|REF_RGD_ID:1600708 9028273 Sod1 superoxide dismutase 1 gene DOID:3491 Turner syndrome ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 9028273 Sod1 superoxide dismutase 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:cerebral cortex (rat) PMID:22133807|REF_RGD_ID:8657023 9028273 Sod1 superoxide dismutase 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:22001340|REF_RGD_ID:8657021 9028273 Sod1 superoxide dismutase 1 gene DOID:3687 MELAS syndrome ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11907800 9028273 Sod1 superoxide dismutase 1 gene DOID:3770 pulmonary fibrosis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26699812 9028273 Sod1 superoxide dismutase 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3731 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:26534761|REF_RGD_ID:11035301 9028273 Sod1 superoxide dismutase 1 gene DOID:409 liver disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17877538 9028273 Sod1 superoxide dismutase 1 gene DOID:4195 hyperglycemia treatment ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Ischemic Attack, Transient; human gene in a rat model PMID:17272778|REF_RGD_ID:1642027 9028273 Sod1 superoxide dismutase 1 gene DOID:4448 macular degeneration ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16844785|REF_RGD_ID:1581207 9028273 Sod1 superoxide dismutase 1 gene DOID:4448 macular degeneration susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:23848218|REF_RGD_ID:8655651 9028273 Sod1 superoxide dismutase 1 gene DOID:5113 nutritional deficiency disease ISO RGD:3731 D RGD:9068941 20200609 RGD Copper Deficiency; protein:decreased activity:erythrocyte (rat) PMID:15337829|REF_RGD_ID:1358244 9028273 Sod1 superoxide dismutase 1 gene DOID:5113 nutritional deficiency disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12514262 9028273 Sod1 superoxide dismutase 1 gene DOID:520 aortic disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25101153 9028273 Sod1 superoxide dismutase 1 gene DOID:5434 scrapie ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11701772 9028273 Sod1 superoxide dismutase 1 gene DOID:576 proteinuria ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:2273594 9028273 Sod1 superoxide dismutase 1 gene DOID:5844 myocardial infarction ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:11864929|REF_RGD_ID:1581222 9028273 Sod1 superoxide dismutase 1 gene DOID:5844 myocardial infarction ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21600015 9028273 Sod1 superoxide dismutase 1 gene DOID:5844 myocardial infarction treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:22006090|REF_RGD_ID:8655953 9028273 Sod1 superoxide dismutase 1 gene DOID:6000 congestive heart failure ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20304815 9028273 Sod1 superoxide dismutase 1 gene DOID:630 genetic disease ISO RGD:730855 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14506936|PMID:16674979|PMID:18504130|PMID:19363716|PMID:21603025|PMID:23949607|PMID:26467025|PMID:27884173|PMID:28492532|PMID:28620717|PMID:8938700|PMID:9365366 9028273 Sod1 superoxide dismutase 1 gene DOID:649 prion disease disease_progression ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:18559949|REF_RGD_ID:13782161 9028273 Sod1 superoxide dismutase 1 gene DOID:678 progressive supranuclear palsy ISO RGD:730855 D RGD:9068941 20200609 RGD protein:increased activity:brain (human) PMID:11879807|REF_RGD_ID:8655859 9028273 Sod1 superoxide dismutase 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730855 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33010264 9028273 Sod1 superoxide dismutase 1 gene DOID:767 muscular atrophy ISO RGD:730855 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:24163136|PMID:29374221 9028273 Sod1 superoxide dismutase 1 gene DOID:7998 hyperthyroidism ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19914224 9028273 Sod1 superoxide dismutase 1 gene DOID:7998 hyperthyroidism treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:22476324|REF_RGD_ID:8655984 9028273 Sod1 superoxide dismutase 1 gene DOID:83 cataract ISO RGD:11329 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19324844|REF_RGD_ID:2312362 9028273 Sod1 superoxide dismutase 1 gene DOID:83 cataract ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:16254550|REF_RGD_ID:1581192 9028273 Sod1 superoxide dismutase 1 gene DOID:83 cataract ISO RGD:730855 D RGD:9068941 20200609 RGD mRNA:decreased expression:eye lens (human) PMID:23970468|REF_RGD_ID:8655570 9028273 Sod1 superoxide dismutase 1 gene DOID:83 cataract susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS3-251A>G (rs2070424) (human) PMID:21921984|REF_RGD_ID:8655573 9028273 Sod1 superoxide dismutase 1 gene DOID:8466 retinal degeneration ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16741961|PMID:19074809 9028273 Sod1 superoxide dismutase 1 gene DOID:863 nervous system disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11158245 9028273 Sod1 superoxide dismutase 1 gene DOID:8947 diabetic retinopathy ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19074809 9028273 Sod1 superoxide dismutase 1 gene DOID:8947 diabetic retinopathy ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:19074809|REF_RGD_ID:8655572 9028273 Sod1 superoxide dismutase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17457363 9028273 Sod1 superoxide dismutase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:16689664|REF_RGD_ID:8655990 9028273 Sod1 superoxide dismutase 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human protein in a rat model PMID:18722523|REF_RGD_ID:8655939 9028273 Sod1 superoxide dismutase 1 gene DOID:9000307 Presbycusis ISO RGD:11329 D RGD:9068941 20200609 RGD mRNA:increased expression:cochlea (mouse) PMID:11678164|REF_RGD_ID:8655636 9028273 Sod1 superoxide dismutase 1 gene DOID:9000307 Presbycusis severity ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:10464373|REF_RGD_ID:8655665 9028273 Sod1 superoxide dismutase 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730855 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 9028273 Sod1 superoxide dismutase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:3731 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland (rat) PMID:17157473|REF_RGD_ID:8657018 9028273 Sod1 superoxide dismutase 1 gene DOID:9000578 SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE ISO RGD:730855 D RGD:7240710 20191016 OMIM 9028273 Sod1 superoxide dismutase 1 gene DOID:9000578 SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE ISO RGD:730855 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive PMID:15050437|PMID:15208263|PMID:15258228|PMID:16945901|PMID:20075587|PMID:20472325|PMID:23280792|PMID:25741868|PMID:28492532|PMID:29982983|PMID:31314961|PMID:31332433|PMID:7881433 9028273 Sod1 superoxide dismutase 1 gene DOID:9000815 Aortic Calcification ISO RGD:3731 D RGD:9068941 20200609 RGD associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta PMID:25430697|REF_RGD_ID:11038653 9028273 Sod1 superoxide dismutase 1 gene DOID:9000855 Experimental Radiation Injuries ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22247605 9028273 Sod1 superoxide dismutase 1 gene DOID:9000918 Disease Progression ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 9028273 Sod1 superoxide dismutase 1 gene DOID:9000998 Brain Injuries ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16248885|REF_RGD_ID:1581214 9028273 Sod1 superoxide dismutase 1 gene DOID:9001044 Choroidal Neovascularization ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16844785|REF_RGD_ID:1581207 9028273 Sod1 superoxide dismutase 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11266387|REF_RGD_ID:9587792 9028273 Sod1 superoxide dismutase 1 gene DOID:9001472 Nasal Polyps ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Rhinosinusitis;protein:decreased expression:nasal mucosa: PMID:23921602|REF_RGD_ID:8547534 9028273 Sod1 superoxide dismutase 1 gene DOID:9001472 Nasal Polyps ISO RGD:730855 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:middle nasal turbinate, lamella (human) PMID:16540901|REF_RGD_ID:1581230 9028273 Sod1 superoxide dismutase 1 gene DOID:9001592 Pathological Protein Aggregation ISO RGD:730855 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:29649360 9028273 Sod1 superoxide dismutase 1 gene DOID:9001981 Weight Loss ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24163136|PMID:29434186 9028273 Sod1 superoxide dismutase 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a rat model PMID:11779401|PMID:16555330|REF_RGD_ID:1581095|REF_RGD_ID:8655889 9028273 Sod1 superoxide dismutase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:11329 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:19470681|REF_RGD_ID:2312361 9028273 Sod1 superoxide dismutase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730855 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphisms: :multiple PMID:17914031|REF_RGD_ID:2312365 9028273 Sod1 superoxide dismutase 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730855 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:11522679|REF_RGD_ID:8655571 9028273 Sod1 superoxide dismutase 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21893188 9028273 Sod1 superoxide dismutase 1 gene DOID:9002315 Kidney Calculi ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 9028273 Sod1 superoxide dismutase 1 gene DOID:9002395 Hypothermia ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11731100 9028273 Sod1 superoxide dismutase 1 gene DOID:9002669 Hypoxia treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:21453737|REF_RGD_ID:8657026 9028273 Sod1 superoxide dismutase 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16179351 9028273 Sod1 superoxide dismutase 1 gene DOID:9002869 Schistosomiasis Mansoni ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16564582 9028273 Sod1 superoxide dismutase 1 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16741961|REF_RGD_ID:8655606 9028273 Sod1 superoxide dismutase 1 gene DOID:9002910 Hearing Loss, Noise-Induced severity ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:10436316|REF_RGD_ID:8655966 9028273 Sod1 superoxide dismutase 1 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snps, haplotypes:introns:multiple (human) PMID:19895330|REF_RGD_ID:8655611 9028273 Sod1 superoxide dismutase 1 gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS2+193T>G (rs10432782), IVS3-251A>G (rs2070424) (human) PMID:22931816|REF_RGD_ID:8655851 9028273 Sod1 superoxide dismutase 1 gene DOID:9002955 Nerve Degeneration ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:17581637|PMID:19243126|PMID:24885036|PMID:24918341 9028273 Sod1 superoxide dismutase 1 gene DOID:9003603 Hemolysis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25247420 9028273 Sod1 superoxide dismutase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:15364863|REF_RGD_ID:1580834 9028273 Sod1 superoxide dismutase 1 gene DOID:9004009 Reperfusion Injury ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:15364863|PMID:16397181|PMID:23061969|PMID:23743330 9028273 Sod1 superoxide dismutase 1 gene DOID:9004484 Sepsis ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:26266917|REF_RGD_ID:11035300 9028273 Sod1 superoxide dismutase 1 gene DOID:9004538 Hearing Loss ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16055286|REF_RGD_ID:1581213 9028273 Sod1 superoxide dismutase 1 gene DOID:9004538 Hearing Loss ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11474137 9028273 Sod1 superoxide dismutase 1 gene DOID:9004989 Protein Deficiency ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16214328 9028273 Sod1 superoxide dismutase 1 gene DOID:9005246 Paralysis ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 9028273 Sod1 superoxide dismutase 1 gene DOID:9005372 Inflammation ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22867017 9028273 Sod1 superoxide dismutase 1 gene DOID:9005452 Ureteral Calculi ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24360074 9028273 Sod1 superoxide dismutase 1 gene DOID:9005532 Muscle Weakness ISO RGD:730855 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:29434186|PMID:33269387 9028273 Sod1 superoxide dismutase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3731 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (rat) PMID:20924670|REF_RGD_ID:8655956 9028273 Sod1 superoxide dismutase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186 9028273 Sod1 superoxide dismutase 1 gene DOID:9005749 Necrosis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9548797 9028273 Sod1 superoxide dismutase 1 gene DOID:9006024 Hypotension ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9024144 9028273 Sod1 superoxide dismutase 1 gene DOID:9006205 Animal Disease Models ISO RGD:730855 D RGD:9068941 20211015 CTD CTD Direct Evidence: marker/mechanism PMID:12586733|PMID:12684256|PMID:19227972|PMID:20177826|PMID:21867702|PMID:23583883|PMID:24885036|PMID:28038988|PMID:28123103|PMID:29374221|PMID:29434186 9028273 Sod1 superoxide dismutase 1 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21867702 9028273 Sod1 superoxide dismutase 1 gene DOID:9006617 Fatigue ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:28123103 9028273 Sod1 superoxide dismutase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28885000 9028273 Sod1 superoxide dismutase 1 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19951287 9028273 Sod1 superoxide dismutase 1 gene DOID:9007096 Stroke ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10698074 9028273 Sod1 superoxide dismutase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750|PMID:27349771 9028273 Sod1 superoxide dismutase 1 gene DOID:9007402 Gliosis ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24918341|PMID:29434186 9028273 Sod1 superoxide dismutase 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21742780|PMID:2982513 9028273 Sod1 superoxide dismutase 1 gene DOID:9007748 Retinal Neovascularization ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:19142872|REF_RGD_ID:8655607 9028273 Sod1 superoxide dismutase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3731 D RGD:9068941 20200609 RGD PMID:23629152|REF_RGD_ID:8655965 9028273 Sod1 superoxide dismutase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730855 D RGD:9068941 20200609 RGD PMID:12668130|REF_RGD_ID:11035287 9028273 Sod1 superoxide dismutase 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:730855 D RGD:9068941 20200609 RGD human protein in a rat model PMID:19277497|REF_RGD_ID:8655884 9028273 Sod1 superoxide dismutase 1 gene DOID:9008510 Chronic Hepatitis ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 9028273 Sod1 superoxide dismutase 1 gene DOID:9111 cutaneous leishmaniasis ISO RGD:730855 D RGD:9068941 20200609 RGD protein:increased activity:erythrocyte: PMID:9892499|REF_RGD_ID:9479188 9028273 Sod1 superoxide dismutase 1 gene DOID:9282 ocular hypertension ISO RGD:3731 D RGD:9068941 20200609 RGD protein:decreased expression:retina PMID:18626730|REF_RGD_ID:2303613 9028273 Sod1 superoxide dismutase 1 gene DOID:9351 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23786522 9028273 Sod1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:11329 D RGD:9068941 20200609 RGD PMID:16005359|REF_RGD_ID:1581216 9028273 Sod1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15531508 9028273 Sod1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) PMID:18423055|REF_RGD_ID:2312364 9028273 Sod1 superoxide dismutase 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 RGD protein:decreased expression:erythrocyte PMID:19317795|REF_RGD_ID:2312363 9028273 Sod1 superoxide dismutase 1 gene DOID:9452 steatotic liver disease ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27349771 9028273 Sod1 superoxide dismutase 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730855 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human) PMID:18423055|REF_RGD_ID:2312364 9028273 Sod1 superoxide dismutase 1 gene DOID:9923 developmental coordination disorder ISO RGD:730855 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:29434186 9028273 Sod1 superoxide dismutase 1 gene DOID:9970 obesity ISO RGD:730855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24042701 9028273 Sod1 superoxide dismutase 1, soluble gene DOID:649 prion disease disease_progression ISO RGD:11329 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:23349894|REF_RGD_ID:13782160 9028290 Fam185a family with sequence similarity 185 member A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601709 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9028290 Fam185a family with sequence similarity 185 member A gene DOID:630 genetic disease ISO RGD:1601709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028304 Psmd8 proteasome 26S subunit, non-ATPase 8 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1320403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 9028304 Psmd8 proteasome 26S subunit, non-ATPase 8 gene DOID:630 genetic disease ISO RGD:1320403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028316 Gnal G protein subunit alpha L gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1349997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 9028316 Gnal G protein subunit alpha L gene DOID:0080855 Parkinsonism ISO RGD:69021 D RGD:9068941 20200609 RGD PMID:22539851|REF_RGD_ID:13513924 9028316 Gnal G protein subunit alpha L gene DOID:0081292 traumatic brain injury ISO RGD:2715 D RGD:9068941 20200609 RGD PMID:29215295|REF_RGD_ID:13513923 9028316 Gnal G protein subunit alpha L gene DOID:0090055 dystonia 25 ISO RGD:1349997 D RGD:7240710 20180130 OMIM 9028316 Gnal G protein subunit alpha L gene DOID:0090055 dystonia 25 ISO RGD:1349997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 25 PMID:23222958|PMID:23449625|PMID:23759320|PMID:24408567|PMID:25741868|PMID:26506956|PMID:27123488|PMID:28492532|PMID:30605297 9028316 Gnal G protein subunit alpha L gene DOID:1059 intellectual disability ISO RGD:1349997 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9028316 Gnal G protein subunit alpha L gene DOID:543 dystonia ISO RGD:1349997 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:17576681|PMID:23222958|PMID:23759320|PMID:24151159|PMID:24405754|PMID:24408567|PMID:24500857|PMID:24535567|PMID:24729450|PMID:25741868|PMID:25817843|PMID:26506956|PMID:27123488|PMID:28492532|PMID:30605297|PMID:31731261|PMID:9536098 9028316 Gnal G protein subunit alpha L gene DOID:630 genetic disease ISO RGD:1349997 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9028316 Gnal G protein subunit alpha L gene DOID:9001722 Dysarthria ISO RGD:1349997 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:32581362 9028339 Znf135 zinc finger protein 135 gene DOID:630 genetic disease ISO RGD:1349048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028340 Tatdn2 TatD DNase domain containing 2 gene DOID:630 genetic disease ISO RGD:1349644 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028340 Tatdn2 TatD DNase domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9028340 Tatdn2 TatD DNase domain containing 2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1349644 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myoclonic-astatic epilepsy PMID:25865495|PMID:28492532|PMID:31401500 9028340 Tatdn2 TatD DNase domain containing 2 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1349644 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 9028373 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:11446 sciatic neuropathy ISO RGD:1311983 D RGD:9068941 20200609 RGD PMID:16863689|REF_RGD_ID:9850145 9028373 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:2377 multiple sclerosis ISO RGD:1323724 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs997941, rs34925346) (human) PMID:20072140|REF_RGD_ID:6892695 9028373 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:3328 temporal lobe epilepsy ISO RGD:1311983 D RGD:9068941 20200609 RGD protein:decreased expression:CA3 field of hippocampus PMID:25420768|REF_RGD_ID:9850144 9028373 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1311983 D RGD:9068941 20200609 RGD PMID:21840379|PMID:23275173|REF_RGD_ID:9850121|REF_RGD_ID:9850122 9028373 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:630 genetic disease ISO RGD:1323724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028373 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1311983 D RGD:9068941 20200609 RGD PMID:16585268|REF_RGD_ID:9850138 9028373 Rgma repulsive guidance molecule BMP co-receptor a gene DOID:9002560 Penetrating Eye Injuries ISO RGD:1311983 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:21887516|REF_RGD_ID:9850142 9028386 Ndrg3 NDRG family member 3 gene DOID:2234 focal epilepsy ISO RGD:1315300 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9028386 Ndrg3 NDRG family member 3 gene DOID:630 genetic disease ISO RGD:1315300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028418 Jpt1 Jupiter microtubule associated homolog 1 gene DOID:630 genetic disease ISO RGD:1348734 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028431 Zbtb44 zinc finger and BTB domain containing 44 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 9028431 Zbtb44 zinc finger and BTB domain containing 44 gene DOID:5419 schizophrenia ISO RGD:1606019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9028431 Zbtb44 zinc finger and BTB domain containing 44 gene DOID:630 genetic disease ISO RGD:1606019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028431 Zbtb44 zinc finger and BTB domain containing 44 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9028431 Zbtb44 zinc finger and BTB domain containing 44 gene DOID:9007661 Dwarfism ISO RGD:1606019 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9028449 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 9028449 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 9028449 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 9028449 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:1059 intellectual disability ISO RGD:1322057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9028449 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:12712 nephronophthisis ISO RGD:1322057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 9028449 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 9028449 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:630 genetic disease ISO RGD:1322057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028449 Tstd2 thiosulfate sulfurtransferase like domain containing 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1322057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 9028476 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:7240710 20180130 OMIM 9028476 Lig4 DNA ligase 4 gene DOID:0060021 DNA ligase IV deficiency ISO RGD:1312194 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: Lig4 syndrome PMID:10395545|PMID:11349135|PMID:11779494|PMID:12471202|PMID:15333585|PMID:16088910|PMID:16358361|PMID:16358631|PMID:16585603|PMID:1779494|PMID:18845326|PMID:21664875|PMID:23337116|PMID:23372718|PMID:24027040|PMID:24033266|PMID:24123394|PMID:24759409|PMID:2489227|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:26151233|PMID:26608917|PMID:26762768|PMID:27063650|PMID:27577878|PMID:27612988|PMID:27855655|PMID:27893162|PMID:28039949|PMID:28492532|PMID:28866308|PMID:29146883|PMID:30617623|PMID:30719430|PMID:31589614|PMID:31604460|PMID:31696992|PMID:32534991|PMID:34630384|PMID:35592332|PMID:5333585|PMID:7063650 9028476 Lig4 DNA ligase 4 gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1312194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:12471202|PMID:24033266|PMID:25741868|PMID:28492532 9028476 Lig4 DNA ligase 4 gene DOID:10283 prostate cancer treatment ISO RGD:1312194 D RGD:9068941 20200609 RGD PMID:16638864|REF_RGD_ID:13204720 9028476 Lig4 DNA ligase 4 gene DOID:1793 pancreatic cancer susceptibility ISO RGD:1312194 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus;DNA:polymorphism: :54C>T (human) PMID:19147782|REF_RGD_ID:2317363 9028476 Lig4 DNA ligase 4 gene DOID:1909 melanoma ISO RGD:1312194 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 9028476 Lig4 DNA ligase 4 gene DOID:3070 high grade glioma ISO RGD:1312194 D RGD:9068941 20200609 RGD DNA:SNP: :rs1805388 (human) PMID:23663450|REF_RGD_ID:13204718 9028476 Lig4 DNA ligase 4 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1312194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary thyroid carcinoma PMID:25741868 9028476 Lig4 DNA ligase 4 gene DOID:627 severe combined immunodeficiency ISO RGD:1312194 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:16585603|PMID:18845326|PMID:26151233|PMID:28492532|PMID:31604460 9028476 Lig4 DNA ligase 4 gene DOID:630 genetic disease ISO RGD:1312194 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11779494|PMID:15333585|PMID:16088910|PMID:23372718|PMID:24027040|PMID:24123394|PMID:24759409|PMID:24892279|PMID:2523926|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532|PMID:28866308|PMID:29146883|PMID:31589614|PMID:31604460|PMID:35592332 9028476 Lig4 DNA ligase 4 gene DOID:6536 plasma cell neoplasm ISO RGD:1312194 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532 9028476 Lig4 DNA ligase 4 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1312194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9028476 Lig4 DNA ligase 4 gene DOID:9003571 Paraproteinemias ISO RGD:1312194 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:11779494|PMID:15333585|PMID:16088910|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532 9028476 Lig4 DNA ligase 4 gene DOID:9256 colorectal cancer ISO RGD:1312194 D RGD:9068941 20200609 RGD DNA, mRNA:hypermethylation, decreased expression PMID:24282031|REF_RGD_ID:8694072 9028476 Lig4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:7240710 20180130 OMIM 9028476 Lig4 DNA ligase 4 gene DOID:9538 multiple myeloma ISO RGD:1312194 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis PMID:11779494|PMID:12471202|PMID:15333585|PMID:16088910|PMID:24033266|PMID:24123394|PMID:24759409|PMID:24892279|PMID:25239263|PMID:25741868|PMID:27063650|PMID:27612988|PMID:28492532 9028490 Ccdc62 coiled-coil domain containing 62 gene DOID:630 genetic disease ISO RGD:1603292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028490 Ccdc62 coiled-coil domain containing 62 gene DOID:9001970 Spermatogenic Failure 67 ISO RGD:1603292 D RGD:7240710 20220406 OMIM 9028490 Ccdc62 coiled-coil domain containing 62 gene DOID:9001970 Spermatogenic Failure 67 ISO RGD:1603292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 67 PMID:31985809 9028520 Kxd1 KxDL motif containing 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1622240 D RGD:9068941 20220825 MouseDO 9028520 Kxd1 KxDL motif containing 1 gene DOID:630 genetic disease ISO RGD:1601969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028520 Kxd1 KxDL motif containing 1 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1601969 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:0050827 rheumatic heart disease ISO RGD:2192 D RGD:9068941 20230202 RGD mRNA:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12754746 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:2192 D RGD:9068941 20200609 RGD associated with gastric adenocarcinoma PMID:29588340|REF_RGD_ID:13792594 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:0060108 brain glioma treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:27255231|PMID:29324390|REF_RGD_ID:13792502|REF_RGD_ID:13792598 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:10283 prostate cancer ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:17575222|PMID:18444130|REF_RGD_ID:1643354|REF_RGD_ID:2292907 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:10286 prostate carcinoma disease_progression ISO RGD:70373 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland epithelium PMID:17454944|REF_RGD_ID:1643355 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:10534 stomach cancer treatment ISO RGD:70373 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:16265626|PMID:17639989|REF_RGD_ID:10054047|REF_RGD_ID:2293073 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18077176 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:8990132|REF_RGD_ID:10054039 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:10652 Alzheimer's disease treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21585051|PMID:29587274|PMID:29777699|REF_RGD_ID:10054049|REF_RGD_ID:13782186|REF_RGD_ID:13782188 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:10763 hypertension treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20065158|REF_RGD_ID:10053702 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:11054 urinary bladder cancer ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:18452128|REF_RGD_ID:2296023 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:114 heart disease ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19820199|REF_RGD_ID:2314021 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:11476 osteoporosis treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22648569|REF_RGD_ID:10054093 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:11612 polycystic ovary syndrome ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21062263 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:11650 bronchopulmonary dysplasia ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:26431790|REF_RGD_ID:11537057 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:12336 male infertility ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:7569956|REF_RGD_ID:734632 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:12336 male infertility ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24723216 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:127 leiomyoma treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23789224|REF_RGD_ID:10054112 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:12704 ataxia telangiectasia susceptibility ISO RGD:70373 D RGD:9068941 20200609 RGD DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) PMID:19898928|REF_RGD_ID:14394817 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:12858 Huntington's disease ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:11299004|REF_RGD_ID:10054041 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:12858 Huntington's disease treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:18938217|REF_RGD_ID:10054048 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:12930 dilated cardiomyopathy ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:12930 dilated cardiomyopathy treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23980359|REF_RGD_ID:10054117 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:1307 dementia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21473886|REF_RGD_ID:10054040 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:14221 abdominal obesity-metabolic syndrome 1 treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:27131981|REF_RGD_ID:13792503 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:1520 colon carcinoma ISO RGD:70373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:10984511|PMID:9020077|PMID:9453486|PMID:9531611 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:1596 depressive disorder treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21308783|REF_RGD_ID:10054142 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:1612 breast cancer disease_progression ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:17626754|REF_RGD_ID:1643353 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:1686 glaucoma ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve, retina PMID:24357921|REF_RGD_ID:10054098 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:1824 status epilepticus treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22849356|REF_RGD_ID:10054246 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:1875 impotence treatment ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21235725|REF_RGD_ID:10053666 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:2055 post-traumatic stress disorder ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23381833|REF_RGD_ID:10054113 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:224 transient cerebral ischemia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21167243|REF_RGD_ID:10054102 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:234 colon adenocarcinoma susceptibility ISO RGD:70373 D RGD:9068941 20200609 RGD DNA:frameshift mutation: ; PMID:9020077|REF_RGD_ID:734633 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:2560 morphine dependence treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:24906198|REF_RGD_ID:10054248 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:289 endometriosis treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23406865|REF_RGD_ID:7257718 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:3021 acute kidney failure ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:3021 acute kidney failure treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20037173|REF_RGD_ID:10053672 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:326 ischemia ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15172883 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:3307 teratoma disease_progression ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:17390059|REF_RGD_ID:2296025 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:10582606|REF_RGD_ID:13506907 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:20195368|PMID:21193837|REF_RGD_ID:13506800|REF_RGD_ID:13506805 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:20890041|PMID:24699224|REF_RGD_ID:13506797|REF_RGD_ID:13506803 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23143152|REF_RGD_ID:10054501 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:3669 intermittent claudication ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23658678|REF_RGD_ID:9586024 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:3744 cervical squamous cell carcinoma ISO RGD:70373 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17694953|REF_RGD_ID:1643352 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:70373 D RGD:9068941 20210903 RGD human cells in mouse model PMID:23632475|REF_RGD_ID:150404268 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:4448 macular degeneration ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:20054800|REF_RGD_ID:10043353 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:4467 clear cell renal cell carcinoma ISO RGD:70373 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:28551630|REF_RGD_ID:15036804 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:12234300|REF_RGD_ID:1579984 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:5295 intestinal disease treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:24228095|REF_RGD_ID:10058972 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:5434 scrapie ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:27921253|REF_RGD_ID:13782156 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:70373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia PMID:9531611 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:5844 myocardial infarction ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079142|PMID:25450231 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:6000 congestive heart failure treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:18097624|PMID:29746994|REF_RGD_ID:10054097|REF_RGD_ID:13792577 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:630 genetic disease ISO RGD:70373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10984511|PMID:9020077|PMID:9453486|PMID:9531611 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:649 prion disease ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:15618403|REF_RGD_ID:13782157 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2192 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:7166 thyroiditis ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20968180|REF_RGD_ID:10054115 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:70373 D RGD:9068941 20200609 RGD PMID:19217321|REF_RGD_ID:10053643 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:8398 osteoarthritis ISO RGD:70373 D RGD:9068941 20200609 RGD protein:increased expression:chondrocyte PMID:16864079|REF_RGD_ID:10054095 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:8466 retinal degeneration ISO RGD:2192 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:24166353|REF_RGD_ID:11522757 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9000027 Microsatellite Instability ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25701956 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:27256506|REF_RGD_ID:13792677 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9000117 Esophageal Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634542 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9000288 Chronic Intermittent Hypoxia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:26769958|REF_RGD_ID:13792505 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:70373 D RGD:9068941 20200609 RGD associated with Carcinoma, Infiltrating Duct PMID:17288732|REF_RGD_ID:1643356 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9000998 Brain Injuries treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20888848|REF_RGD_ID:10054247 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9001390 Testis Reperfusion Injury ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:26754107|REF_RGD_ID:11555349 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23056591|REF_RGD_ID:10053711 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22647552|REF_RGD_ID:10053673 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:10226 D RGD:9068941 20230525 RGD PMID:34144219|REF_RGD_ID:329812011 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21092002|REF_RGD_ID:5134995 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease PMID:22847887|REF_RGD_ID:10053710 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002221 Hyperplasia ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:7569956|REF_RGD_ID:734632 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22932950|REF_RGD_ID:10054114 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002245 Intestinal Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12663524 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:18317887|REF_RGD_ID:2291908 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002304 Prostatic Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17542986 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20131282|REF_RGD_ID:6907382 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002457 Experimental Arthritis ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:21199477|REF_RGD_ID:10054249 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22978269|REF_RGD_ID:10054498 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002644 Premature Aging treatment ISO RGD:10226 D RGD:9068941 20200609 RGD PMID:21359432|REF_RGD_ID:6480478 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002676 Cerebral Hemorrhage ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721362 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002928 Colonic Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17404573 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9002955 Nerve Degeneration ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20385067 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:2192 D RGD:9068941 20230128 RGD PMID:21189961|PMID:24089674|PMID:29635023|REF_RGD_ID:10054502|REF_RGD_ID:13782292|REF_RGD_ID:155882465 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9004009 Reperfusion Injury ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:18221257|REF_RGD_ID:2293026 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9004009 Reperfusion Injury ISO RGD:2192 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:18083315|REF_RGD_ID:2290557 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9004038 Kashin-Beck Disease ISO RGD:70373 D RGD:9068941 20200609 RGD protein:increased expression:articular cartilage, chondrocyte PMID:16511931|REF_RGD_ID:10054094 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9004610 Acute Lung Injury ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:20663300|REF_RGD_ID:10054109 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9005181 Multi-Infarct Dementia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:18938189|REF_RGD_ID:10054050 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms severity ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:20732338|REF_RGD_ID:10053708 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23404339|REF_RGD_ID:10053670 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2192 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18991018|REF_RGD_ID:2311240 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23267840|REF_RGD_ID:10054099 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9005930 Endotoxemia ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:increased expression:diaphragm PMID:23940949|REF_RGD_ID:10054120 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:2192 D RGD:9068941 20230803 RGD associated with Pulmonary Arterial Hypertension PMID:26959484|REF_RGD_ID:329969898 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23151253|REF_RGD_ID:10054101 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9006827 Lung Reperfusion Injury ameliorates ISO RGD:10226 D RGD:9068941 20220915 RGD PMID:34238924|REF_RGD_ID:153350155 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:23953793|REF_RGD_ID:10054119 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9006945 Diabetic Cardiomyopathies ameliorates ISO RGD:10226 D RGD:9068941 20230302 RGD PMID:36044268|REF_RGD_ID:156430337 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9007102 Myocardial Ischemia treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22014268|REF_RGD_ID:10054500 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:10226 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17906064 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9007730 Burns treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22153006|REF_RGD_ID:10054126 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20026869 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2192 D RGD:9068941 20220923 RGD PMID:21223820|PMID:25547710|PMID:31583047|REF_RGD_ID:10054103|REF_RGD_ID:13782178|REF_RGD_ID:155230831 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9008091 Optic Nerve Injuries ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:increased expression:optic nerve, retina PMID:24357921|REF_RGD_ID:10054098 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9008443 Colorectal Neoplasms ISO RGD:70373 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9008622 Adrenal Insufficiency ISO RGD:2192 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute Necrotizing;protein:increased expression:adrenal cortex PMID:21161352|REF_RGD_ID:6482719 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9008824 Sarcopenia ISO RGD:2192 D RGD:9068941 20200609 RGD mRNA:decreased expression:plantaris PMID:17029665|REF_RGD_ID:2325745 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9008939 Breast Neoplasms ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22572619 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9008975 Gastrointestinal Hemorrhage treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:24058648|REF_RGD_ID:10058975 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9256 colorectal cancer ISO RGD:70373 D RGD:7240710 20200226 OMIM 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9352 type 2 diabetes mellitus ISO RGD:70373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31626838 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:22543177|REF_RGD_ID:10054139 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2192 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9952 acute lymphoblastic leukemia ISO RGD:70373 D RGD:7240710 20230505 OMIM 9028540 Bax BCL2 associated X, apoptosis regulator gene DOID:9965 toxoplasmosis ISO RGD:2192 D RGD:9068941 20200609 RGD PMID:24812878|REF_RGD_ID:10054127 9028552 Numb NUMB endocytic adaptor protein gene DOID:1059 intellectual disability ISO RGD:1348962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9028552 Numb NUMB endocytic adaptor protein gene DOID:630 genetic disease ISO RGD:1348962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028574 Gjd4 gap junction protein delta 4 gene DOID:630 genetic disease ISO RGD:1603351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028590 Mycl MYCL proto-oncogene, bHLH transcription factor gene DOID:0050902 medulloblastoma ISO RGD:1346068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 9028590 Mycl MYCL proto-oncogene, bHLH transcription factor gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1346068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9028590 Mycl MYCL proto-oncogene, bHLH transcription factor gene DOID:5409 lung small cell carcinoma ISO RGD:1346068 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22941189 9028590 Mycl MYCL proto-oncogene, bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1346068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028590 Mycl MYCL proto-oncogene, bHLH transcription factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1346068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26005866 9028598 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1603903 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 9028598 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0080761 Fanconi renotubular syndrome 5 ISO RGD:1603903 D RGD:7240710 20200701 OMIM 9028598 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0080761 Fanconi renotubular syndrome 5 ISO RGD:1603903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 5 PMID:25741868|PMID:27466185|PMID:28492532 9028598 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0112078 nuclear type mitochondrial complex I deficiency 17 ISO RGD:1603903 D RGD:7240710 20190315 OMIM 9028598 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:0112078 nuclear type mitochondrial complex I deficiency 17 ISO RGD:1603903 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 PMID:17576681|PMID:18614015|PMID:22019594|PMID:25741868|PMID:26741492|PMID:27623250|PMID:28492532|PMID:28639102|PMID:29531337|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:33097395|PMID:37377599|PMID:9536098 9028598 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:3652 Leigh disease ISO RGD:1603903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:26741492|PMID:28492532|PMID:28639102|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:33097395|PMID:9536098 9028598 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:630 genetic disease ISO RGD:1603903 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:27623250|PMID:28492532|PMID:28639102|PMID:29531337|PMID:30642748|PMID:9536098 9028598 Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1603903 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:26741492|PMID:28492532|PMID:28639102|PMID:30642748|PMID:31665838|PMID:31967322|PMID:32348839|PMID:33097395|PMID:9536098 9028613 Lyrm1 LYR motif containing 1 gene DOID:630 genetic disease ISO RGD:1601746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028639 Gpr61 G protein-coupled receptor 61 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1320923 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 9028639 Gpr61 G protein-coupled receptor 61 gene DOID:12849 autistic disorder ISO RGD:1320923 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9028639 Gpr61 G protein-coupled receptor 61 gene DOID:630 genetic disease ISO RGD:1320923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028658 Mroh2a maestro heat like repeat family member 2A gene DOID:0060476 Perlman syndrome ISO RGD:2302189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Perlman syndrome PMID:28492532 9028658 Mroh2a maestro heat like repeat family member 2A gene DOID:0110991 Joubert syndrome 22 ISO RGD:2302189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 22 PMID:28492532 9028754 Rabl2b RAB, member of RAS oncogene family like 2B gene DOID:0060041 autism spectrum disorder ISO RGD:1353591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984749|PMID:21984750|PMID:25255310 9028754 Rabl2b RAB, member of RAS oncogene family like 2B gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1353591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9028754 Rabl2b RAB, member of RAS oncogene family like 2B gene DOID:1059 intellectual disability ISO RGD:1353591 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:31690835 9028754 Rabl2b RAB, member of RAS oncogene family like 2B gene DOID:630 genetic disease ISO RGD:1353591 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028800 Zmynd15 zinc finger MYND-type containing 15 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1320408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868 9028800 Zmynd15 zinc finger MYND-type containing 15 gene DOID:0070179 spermatogenic failure 14 ISO RGD:1320408 D RGD:7240710 20180130 OMIM 9028800 Zmynd15 zinc finger MYND-type containing 15 gene DOID:0070179 spermatogenic failure 14 ISO RGD:1320408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 14 PMID:33169450 9028800 Zmynd15 zinc finger MYND-type containing 15 gene DOID:12336 male infertility ISO RGD:1320408 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 9028800 Zmynd15 zinc finger MYND-type containing 15 gene DOID:630 genetic disease ISO RGD:1320408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19549232|PMID:20301342|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26920677|PMID:27491411|PMID:28202706|PMID:28492532|PMID:29068549|PMID:29911575|PMID:32581362 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:229911575|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory PMID:14985375|PMID:15133511|PMID:15385606|PMID:15955112|PMID:16385454|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20358599|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32581362|PMID:33216760 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:737151 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:14985375|PMID:15133511|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20358599|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29653220|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32581362|PMID:33216760 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0060041 autism spectrum disorder ISO RGD:737151 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:21698661|PMID:21939494|PMID:23450472|PMID:25741868|PMID:26467025|PMID:28492532 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0060170 generalized epilepsy with febrile seizures plus ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:20478850|PMID:21698661|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:229911575|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25348405|PMID:25401298|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28842445|PMID:28914264|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29933521|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760|PMID:34090020|PMID:374104|PMID:9536098 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25401298|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29933521|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760|PMID:34090020|PMID:9536098 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25401298|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29933521|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760|PMID:34090020|PMID:9536098 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16702558|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20385509|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21441906|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23850641|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25209274|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25621899|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28658526|PMID:28914264|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32005694|PMID:32062735|PMID:32581362|PMID:32707200|PMID:32719824|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296|PMID:34090020|PMID:374104|PMID:9536098 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15133511|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16385454|PMID:16702558|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20358599|PMID:20385509|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21441906|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23850641|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25209274|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25621899|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28658526|PMID:28914264|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29911575|PMID:29924869|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32005694|PMID:32062735|PMID:32581362|PMID:32707200|PMID:32719824|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296|PMID:34090020|PMID:374104|PMID:9536098 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070155 hereditary sensory and autonomic neuropathy type 2A ISO RGD:737151 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HSAN IIA | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15133511|PMID:15302875|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16702558|PMID:16865694|PMID:17145499|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:17576681|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18599537|PMID:18930999|PMID:18945915|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19557861|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20358599|PMID:20385509|PMID:20478850|PMID:20522430|PMID:20628234|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21115638|PMID:21258341|PMID:21416599|PMID:21441906|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22286749|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23149731|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23850641|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24311784|PMID:24650168|PMID:24776970|PMID:24813348|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25209274|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25348405|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25525159|PMID:25621899|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28116328|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28381558|PMID:28440294|PMID:28492532|PMID:28658526|PMID:28914264|PMID:28991257|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29653220|PMID:29911575|PMID:29924869|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30672368|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31440721|PMID:31780880|PMID:31847883|PMID:32005694|PMID:32062735|PMID:32368696|PMID:32420800|PMID:32581362|PMID:32707200|PMID:32719824|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296|PMID:34090020|PMID:35446973|PMID:35813073|PMID:374104|PMID:9536098 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0070309 absence epilepsy ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:25741868 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0080421 developmental and epileptic encephalopathy 11 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0080422 Dravet syndrome ISO RGD:737151 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:23895530|PMID:25250524|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29264398|PMID:29911575|PMID:30316835 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0081116 benign familial infantile seizures 3 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111112 nephronophthisis 1 ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111295 generalized epilepsy with febrile seizures plus 7 ISO RGD:737151 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7 PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15133511|PMID:15385606|PMID:15955112|PMID:16199547|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20358599|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28379373|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29653220|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:32581362|PMID:33216760 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111297 familial febrile seizures ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial PMID:21698661|PMID:25741868|PMID:26467025|PMID:28492532 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111307 familial febrile seizures 1 ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 1 PMID:25741868|PMID:28492532|PMID:31394368 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737151 D RGD:7240710 20190315 OMIM 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0111537 paroxysmal extreme pain disorder ISO RGD:737151 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Paroxysmal extreme pain disorder | ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL PMID:15955112|PMID:17145499|PMID:18414213|PMID:18518989|PMID:18599537|PMID:19369487|PMID:19633428|PMID:19763161|PMID:20038812|PMID:20301342|PMID:20478850|PMID:21094958|PMID:21115638|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25316021|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29653220|PMID:29911575|PMID:29961513|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:33216760 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25995458|PMID:26068938|PMID:27491411|PMID:28202706|PMID:28379373|PMID:28492532|PMID:29068549|PMID:30795902 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:737151 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21698661|PMID:28492532|PMID:28991257|PMID:32368696 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:10907 microcephaly ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:12712 nephronophthisis ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21719429|PMID:22495306|PMID:23020937|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28492532|PMID:29068549 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:14777 benign familial neonatal epilepsy ISO RGD:737151 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial neonatal seizures PMID:15133511|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18930999|PMID:19304393|PMID:19400878|PMID:20358599|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25492405|PMID:26068938|PMID:27491411|PMID:28379373|PMID:28492532|PMID:29068549 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:1826 epilepsy ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:19763161|PMID:22604722|PMID:23129781|PMID:25250524|PMID:25741868|PMID:26467025|PMID:27504264|PMID:28492532|PMID:29176367|PMID:30642272|PMID:33216760 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:308 early myoclonic encephalopathy ISO RGD:737151 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:23895530|PMID:25250524|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29264398|PMID:29911575|PMID:30316835 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:327 syringomyelia ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MORVAN DISEASE PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18479393|PMID:18930999|PMID:19304393|PMID:19400878|PMID:19549232|PMID:20301342|PMID:20522430|PMID:21068128|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21719429|PMID:22495306|PMID:23016767|PMID:23020937|PMID:23184456|PMID:23559409|PMID:23662938|PMID:24650168|PMID:24876116|PMID:25253744|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26920677|PMID:27491411|PMID:28202706|PMID:28492532|PMID:29068549|PMID:29911575|PMID:32581362 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:327 syringomyelia ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MORVAN DISEASE | ClinVar Annotator: match by term: Morvan disease PMID:14985375|PMID:15385606|PMID:15955112|PMID:16865694|PMID:17167479|PMID:17347258|PMID:17470132|PMID:17561957|PMID:18327258|PMID:18347287|PMID:18414213|PMID:18479393|PMID:18518989|PMID:18930999|PMID:19304393|PMID:19369487|PMID:19400878|PMID:19549232|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20522430|PMID:20635406|PMID:21068128|PMID:21094958|PMID:21258341|PMID:21416599|PMID:21692795|PMID:21698661|PMID:21719429|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22495306|PMID:22539570|PMID:22604722|PMID:22826602|PMID:229911575|PMID:22995991|PMID:23016767|PMID:23020937|PMID:23129781|PMID:23184456|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23559409|PMID:23662938|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24650168|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:24876116|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25439579|PMID:25492405|PMID:25524840|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26068938|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27491411|PMID:27504264|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28202706|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29068549|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30478917|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31780880|PMID:32581362|PMID:32613771|PMID:33216760 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:737151 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:18414213|PMID:20478850|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:28492532|PMID:29358611 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:630 genetic disease ISO RGD:737151 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases PMID:10514109|PMID:10852559|PMID:10852560|PMID:16199547|PMID:17470132|PMID:17576681|PMID:18414213|PMID:19304393|PMID:19763161|PMID:20478850|PMID:21094958|PMID:21441906|PMID:21698661|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23895530|PMID:24088041|PMID:24776970|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25316021|PMID:25401298|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29911575|PMID:29933521|PMID:29961513|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30642272|PMID:31193310|PMID:31372899|PMID:31780880|PMID:33216760|PMID:33487118|PMID:9536098 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:630 genetic disease ISO RGD:737151 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10514109|PMID:10852559|PMID:10852560|PMID:16199547|PMID:17470132|PMID:17576681|PMID:18414213|PMID:19304393|PMID:19763161|PMID:20301342|PMID:20478850|PMID:21094958|PMID:21441906|PMID:21698661|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23895530|PMID:24088041|PMID:24776970|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25253744|PMID:25316021|PMID:25741868|PMID:25852444|PMID:25993546|PMID:25995458|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29653220|PMID:29911575|PMID:29961513|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30642272|PMID:30795902|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31440721|PMID:31780880|PMID:31847883|PMID:32420800|PMID:33216760|PMID:33487118|PMID:35446973|PMID:9536098 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9002272 Small Fiber Neuropathy ISO RGD:737151 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Small fiber neuropathy PMID:18414213|PMID:19763161|PMID:21698661|PMID:22035805|PMID:22539570|PMID:22826602|PMID:23280954|PMID:23850641|PMID:23895530|PMID:24088041|PMID:24817410|PMID:24820863|PMID:25250524|PMID:25316021|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26633545|PMID:27301361|PMID:27525141|PMID:27608006|PMID:27843123|PMID:28073787|PMID:28235406|PMID:28492532|PMID:29176367|PMID:29358611|PMID:29961513|PMID:30478917|PMID:30569495|PMID:31193310 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9002512 Postherpetic Neuralgia ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9002834 Herpesviridae Infections ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382806 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9005968 Neuralgia ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19557861 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9006202 Pruritus ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24820863 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008001 Familial Febrile Seizures 3B ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 3b PMID:19763161|PMID:25741868|PMID:28492532|PMID:33216760 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008086 Developmental Disabilities ISO RGD:737151 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:19763161|PMID:22604722|PMID:23129781|PMID:25250524|PMID:25741868|PMID:26467025|PMID:27504264|PMID:28492532|PMID:29176367|PMID:30642272|PMID:33216760 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive ISO RGD:737151 D RGD:7240710 20180130 OMIM 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive ISO RGD:737151 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive PMID:15955112|PMID:17167479|PMID:17470132|PMID:18414213|PMID:18518989|PMID:19304393|PMID:19369487|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20635406|PMID:21094958|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29653220|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32601768|PMID:33216760|PMID:33240936 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:737151 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital Indifference to Pain | ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED | ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated | ClinVar Annotator: match by term: Pain insensitivity PMID:15955112|PMID:17167479|PMID:17470132|PMID:17576681|PMID:18414213|PMID:18518989|PMID:19304393|PMID:19369487|PMID:19763161|PMID:20301342|PMID:20478850|PMID:20635406|PMID:21094958|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25253744|PMID:25309764|PMID:25316021|PMID:25326635|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:28914264|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29500686|PMID:29653220|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31394368|PMID:31780880|PMID:32601768|PMID:33216760|PMID:33240936|PMID:374104|PMID:9536098 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9008520 Chronic Pain ISO RGD:737151 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21634377 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9240 erythromelalgia ISO RGD:737151 D RGD:7240710 20180130 OMIM 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9240 erythromelalgia ISO RGD:737151 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Erythermalgia, primary | ClinVar Annotator: match by term: Inherited Erythromelalgia | ClinVar Annotator: match by term: Primary erythromelalgia PMID:10514109|PMID:10852559|PMID:10852560|PMID:14985375|PMID:15302875|PMID:1536168|PMID:15385606|PMID:15955112|PMID:15958509|PMID:16216943|PMID:16392115|PMID:16702558|PMID:16988069|PMID:17101882|PMID:17135418|PMID:17294067|PMID:17985268|PMID:18171466|PMID:18347287|PMID:18414213|PMID:18518989|PMID:19369487|PMID:19549232|PMID:19557861|PMID:19763161|PMID:20301342|PMID:20385509|PMID:20478850|PMID:20635406|PMID:21094958|PMID:21115638|PMID:21698661|PMID:21939494|PMID:22035805|PMID:22136189|PMID:22539570|PMID:22604722|PMID:22826602|PMID:22995991|PMID:23129781|PMID:23149731|PMID:23280954|PMID:23292638|PMID:23450472|PMID:23874707|PMID:23893323|PMID:23895530|PMID:24033266|PMID:24088041|PMID:24776970|PMID:24817410|PMID:24820863|PMID:24848745|PMID:25250524|PMID:25316021|PMID:25333069|PMID:25741868|PMID:25852444|PMID:25993546|PMID:26264438|PMID:26284228|PMID:26392352|PMID:26467025|PMID:26633545|PMID:26675522|PMID:26920677|PMID:27301361|PMID:27504264|PMID:27525141|PMID:27608006|PMID:27843123|PMID:27884173|PMID:27956748|PMID:28073787|PMID:28235406|PMID:28440294|PMID:28492532|PMID:28658526|PMID:29176367|PMID:29264398|PMID:29358611|PMID:29379075|PMID:29500686|PMID:29653220|PMID:29911575|PMID:29961513|PMID:29978519|PMID:30316835|PMID:30392441|PMID:30478917|PMID:30554136|PMID:30569495|PMID:30642272|PMID:30702961|PMID:30795902|PMID:30834459|PMID:31193310|PMID:31372899|PMID:31394368|PMID:31780880|PMID:31847883|PMID:32581362|PMID:33216760|PMID:33487118|PMID:33688580|PMID:33884296 9028822 Scn9a sodium voltage-gated channel alpha subunit 9 gene DOID:9993 hypoglycemia ISO RGD:737151 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypoglycemia PMID:19763161|PMID:22604722|PMID:23129781|PMID:25250524|PMID:25741868|PMID:26467025|PMID:27504264|PMID:28492532|PMID:29176367|PMID:30642272|PMID:33216760 9028853 S100a10 S100 calcium binding protein A10 gene DOID:0050902 medulloblastoma ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17579622 9028853 S100a10 S100 calcium binding protein A10 gene DOID:0111940 immunodeficiency 42 ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9028853 S100a10 S100 calcium binding protein A10 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9028853 S100a10 S100 calcium binding protein A10 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:733247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9028853 S100a10 S100 calcium binding protein A10 gene DOID:1540 parathyroid carcinoma ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9028853 S100a10 S100 calcium binding protein A10 gene DOID:1596 depressive disorder ISO RGD:628655 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:prefrontal cortex: PMID:21682946|REF_RGD_ID:9588311 9028853 S100a10 S100 calcium binding protein A10 gene DOID:1596 depressive disorder ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21682946 9028853 S100a10 S100 calcium binding protein A10 gene DOID:5812 MHC class II deficiency ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9028853 S100a10 S100 calcium binding protein A10 gene DOID:630 genetic disease ISO RGD:733247 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028853 S100a10 S100 calcium binding protein A10 gene DOID:9000058 Keloid ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 9028853 S100a10 S100 calcium binding protein A10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9028853 S100a10 S100 calcium binding protein A10 gene DOID:9006205 Animal Disease Models ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21682946 9028853 S100a10 S100 calcium binding protein A10 gene DOID:9119 acute myeloid leukemia ISO RGD:733247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 9028853 S100a10 S100 calcium binding protein A10 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9028860 Serf2 small EDRK-rich factor 2 gene DOID:2717 Bloom syndrome ISO RGD:1344606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9028860 Serf2 small EDRK-rich factor 2 gene DOID:630 genetic disease ISO RGD:1344606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028860 Serf2 small EDRK-rich factor 2 gene DOID:9256 colorectal cancer ISO RGD:1344606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9028890 Klf7 KLF transcription factor 7 gene DOID:1059 intellectual disability ISO RGD:1314410 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: intellectual deficiency PMID:25741868|PMID:29251763|PMID:33875846|PMID:36835410 9028890 Klf7 KLF transcription factor 7 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 9028890 Klf7 KLF transcription factor 7 gene DOID:630 genetic disease ISO RGD:1314410 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763|PMID:33875846|PMID:36835410 9028890 Klf7 KLF transcription factor 7 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314410 D RGD:9068941 20240307 CTD CTD Direct Evidence: therapeutic PMID:37734194 9028890 Klf7 KLF transcription factor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314410 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: KLF7-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763|PMID:33875846|PMID:36835410 9028914 Vstm2b V-set and transmembrane domain containing 2B gene DOID:630 genetic disease ISO RGD:1626689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028927 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1343988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9028927 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9028927 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:422 congenital structural myopathy ISO RGD:12345752 D RGD:9068941 20210604 OMIA Centronuclear myopathy, HACD1-related PMID:11166165|PMID:12443679|PMID:12884002|PMID:15829503|PMID:21217042|PMID:21866517|PMID:23071563|PMID:24069350|PMID:2458692|PMID:3421890|PMID:3662204|PMID:3750734|PMID:6495580|PMID:8640649|PMID:977449 9028927 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:630 genetic disease ISO RGD:1343988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9028927 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:9000525 Congenital Myopathy 11 ISO RGD:1343988 D RGD:7240710 20220810 OMIM 9028927 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:9000525 Congenital Myopathy 11 ISO RGD:1343988 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital myopathy 11 PMID:16199547|PMID:23933735|PMID:28492532|PMID:32426512|PMID:33354762 9028927 Hacd1 3-hydroxyacyl-CoA dehydratase 1 gene DOID:9006825 Imerslund-Grasbeck Syndrome ISO RGD:1343988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:28492532 9028937 Nfkbid NFKB inhibitor delta gene DOID:0081154 common variable immunodeficiency 12 ISO RGD:1603004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 9028937 Nfkbid NFKB inhibitor delta gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603004 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 9028937 Nfkbid NFKB inhibitor delta gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603004 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9028937 Nfkbid NFKB inhibitor delta gene DOID:630 genetic disease ISO RGD:1603004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028959 Morc1 MORC family CW-type zinc finger 1 gene DOID:11372 megacolon ISO RGD:1321422 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9028959 Morc1 MORC family CW-type zinc finger 1 gene DOID:1595 melancholic depression ISO RGD:1620107 D RGD:9068941 20220825 MouseDO OMIM:608516 9028959 Morc1 MORC family CW-type zinc finger 1 gene DOID:630 genetic disease ISO RGD:1321422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028988 P2rx7 purinergic receptor P2X 7 gene DOID:14213 hypophosphatasia ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 9028988 P2rx7 purinergic receptor P2X 7 gene DOID:2377 multiple sclerosis ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17728465 9028988 P2rx7 purinergic receptor P2X 7 gene DOID:3328 temporal lobe epilepsy ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12121326|PMID:19084381 9028988 P2rx7 purinergic receptor P2X 7 gene DOID:5082 liver cirrhosis ISO RGD:730814 D RGD:9068941 20210709 CTD CTD Direct Evidence: marker/mechanism PMID:32721574 9028988 P2rx7 purinergic receptor P2X 7 gene DOID:630 genetic disease ISO RGD:730814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9028988 P2rx7 purinergic receptor P2X 7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15258577 9028988 P2rx7 purinergic receptor P2X 7 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11003599 9028988 P2rx7 purinergic receptor P2X 7 gene DOID:9006205 Animal Disease Models ISO RGD:730814 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27466191 9029023 LOC102021151 cytochrome c oxidase copper chaperone gene DOID:630 genetic disease ISO RGD:733581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029023 LOC102021151 cytochrome c oxidase copper chaperone gene DOID:9005172 Lung Neoplasms ISO RGD:733581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23624903 9029023 LOC102021151 cytochrome c oxidase copper chaperone gene DOID:9008510 Chronic Hepatitis ISO RGD:733581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25053573 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:0050967 spinocerebellar ataxia type 17 ISO RGD:1606826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413982 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1606826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:0080690 RASopathy ISO RGD:1606826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1606826 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:0111974 immunodeficiency 59 ISO RGD:1606826 D RGD:7240710 20200826 OMIM 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:0111974 immunodeficiency 59 ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition PMID:25741868|PMID:27913302|PMID:28492532 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:5419 schizophrenia ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:630 genetic disease ISO RGD:1606826 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9029045 Hyou1 hypoxia up-regulated 1 gene DOID:9007661 Dwarfism ISO RGD:1606826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9029091 Acbd4 acyl-CoA binding domain containing 4 gene DOID:630 genetic disease ISO RGD:1318153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029091 Acbd4 acyl-CoA binding domain containing 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1318153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9029130 Dnai3 dynein axonemal intermediate chain 3 gene DOID:630 genetic disease ISO RGD:1605003 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029130 Dnai3 dynein axonemal intermediate chain 3 gene DOID:9000983 Encephalocele ISO RGD:1605003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Occipital encephalocele PMID:29285825 9029170 Papolg poly(A) polymerase gamma gene DOID:630 genetic disease ISO RGD:1321183 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029202 Caskin1 CASK interacting protein 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1351061 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 9029202 Caskin1 CASK interacting protein 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1351061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 9029202 Caskin1 CASK interacting protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1351061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9029202 Caskin1 CASK interacting protein 1 gene DOID:1826 epilepsy ISO RGD:1351061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 9029202 Caskin1 CASK interacting protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1351061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9029202 Caskin1 CASK interacting protein 1 gene DOID:2871 endometrial carcinoma ISO RGD:1351061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 9029202 Caskin1 CASK interacting protein 1 gene DOID:630 genetic disease ISO RGD:1351061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029202 Caskin1 CASK interacting protein 1 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:735947 D RGD:9068941 20200609 RGD PMID:21309737|REF_RGD_ID:5147438 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:0050200 Korean hemorrhagic fever treatment ISO RGD:2895 D RGD:9068941 20200910 RGD PMID:17878294|REF_RGD_ID:2325989 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:0050589 inflammatory bowel disease ISO RGD:735948 D RGD:9068941 20220825 MouseDO 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:0050908 myelodysplastic syndrome ISO RGD:735947 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myelodysplasia PMID:25741868|PMID:28492532 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:735947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735947 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:32026671|PMID:32161940 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:0080600 COVID-19 severity ISO RGD:735947 D RGD:9068941 20200723 RGD protein:increased expression:serum (human) PMID:32164089|PMID:32297828|PMID:32365221|REF_RGD_ID:30310229|REF_RGD_ID:32716368|REF_RGD_ID:36049814 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:0110749 type 1 diabetes mellitus 10 ISO RGD:735947 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 10 PMID:17576681|PMID:17676041|PMID:25741868|PMID:28492532|PMID:9536098 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:0110749 type 1 diabetes mellitus 10 susceptibility ISO RGD:735947 D RGD:7240710 20240306 OMIM 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:0111968 immunodeficiency 41 ISO RGD:735947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency PMID:16199547|PMID:17196245|PMID:17576681|PMID:23261300|PMID:23416241|PMID:24033266|PMID:24116927|PMID:25741868|PMID:28492532|PMID:9096364|PMID:9536098 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:0111968 immunodeficiency 41 susceptibility ISO RGD:735947 D RGD:7240710 20240306 OMIM 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:10322 berylliosis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8977230 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:10325 silicosis ISO RGD:735948 D RGD:9068941 20200609 RGD PMID:21072213|REF_RGD_ID:4891500 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:11266 Hantavirus hemorrhagic fever with renal syndrome ISO RGD:735947 D RGD:9068941 20200609 RGD protein:increased expression:T cell PMID:21436245|REF_RGD_ID:5147436 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:735948 D RGD:9068941 20200609 RGD PMID:20639494|REF_RGD_ID:5147443 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:12894 Sjogren's syndrome ISO RGD:735948 D RGD:9068941 20220825 MouseDO OMIM:270150 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:1790 malignant mesothelioma ISO RGD:735947 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:2377 multiple sclerosis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17660530|PMID:19119414|PMID:19525955|PMID:24076602 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:2377 multiple sclerosis ISO RGD:735947 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:19125193|REF_RGD_ID:2311526 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:2841 asthma ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:17351063|REF_RGD_ID:2325990 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:2841 asthma ISO RGD:735948 D RGD:9068941 20200609 RGD PMID:20525707|PMID:21377197|REF_RGD_ID:5147437|REF_RGD_ID:5147445 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:2921 glomerulonephritis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10910440 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:3042 allergic contact dermatitis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16033404 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12878215 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:5419 schizophrenia ISO RGD:735947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:614 lymphopenia ISO RGD:735947 D RGD:9068941 20200609 RGD IL2RA/CD25 Deficiency, OMIM:606367 DNA:deletion, frameshift:CDS:4 bp deletion, nucleotides 60-64 PMID:9096364|REF_RGD_ID:1600117 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:630 genetic disease ISO RGD:735947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:7148 rheumatoid arthritis ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:20476861|PMID:23143596 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:8778 Crohn's disease ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21102463 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:9002457 Experimental Arthritis ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:17928458|REF_RGD_ID:2325988 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:19269041|REF_RGD_ID:2311529 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:18503494|REF_RGD_ID:2311530 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:18250419|REF_RGD_ID:2325986 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:9351 diabetes mellitus ISO RGD:2895 D RGD:9068941 20200609 RGD PMID:18503494|REF_RGD_ID:2311530 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17676041|PMID:19119414|PMID:19701192|PMID:30224649 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:9744 type 1 diabetes mellitus ISO RGD:735947 D RGD:9068941 20200609 RGD DNA:SNPs PMID:19119414|REF_RGD_ID:2311527 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:9744 type 1 diabetes mellitus onset ISO RGD:735947 D RGD:9068941 20200609 RGD DNA:SNPs PMID:19106270|REF_RGD_ID:2311528 9029231 Il2ra interleukin 2 receptor subunit alpha gene DOID:986 alopecia areata ISO RGD:735947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20596022 9029246 Mgat3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1343088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9029246 Mgat3 beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase gene DOID:630 genetic disease ISO RGD:1343088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029266 Dgkq diacylglycerol kinase theta gene DOID:0050439 Usher syndrome ISO RGD:1318208 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868 9029266 Dgkq diacylglycerol kinase theta gene DOID:12894 Sjogren's syndrome ISO RGD:1318208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 9029266 Dgkq diacylglycerol kinase theta gene DOID:1856 cherubism ISO RGD:1318208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 9029266 Dgkq diacylglycerol kinase theta gene DOID:630 genetic disease ISO RGD:1318208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029266 Dgkq diacylglycerol kinase theta gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1318208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 9029295 Pla2g3 phospholipase A2 group III gene DOID:630 genetic disease ISO RGD:1313284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029312 Ccser2 coiled-coil serine rich protein 2 gene DOID:630 genetic disease ISO RGD:1312172 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:0050848 obstructive sleep apnea ISO RGD:1553810 D RGD:9068941 20220825 MouseDO OMIM:107650 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:0080011 bone resorption disease ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17513972 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:0080205 CAKUT ISO RGD:1344234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:27657687 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:0110113 atrial heart septal defect 8 ISO RGD:1344234 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial septal defect 8 PMID:28492532 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:10283 prostate cancer ISO RGD:1344234 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:15861517|REF_RGD_ID:2289031 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:10283 prostate cancer susceptibility ISO RGD:1344234 D RGD:9068941 20200609 RGD DNA:amplification:prostate gland PMID:17656261|REF_RGD_ID:2289030 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:11400 pyelonephritis ISO RGD:620743 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16034630|REF_RGD_ID:2289039 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:12556 acute kidney tubular necrosis ISO RGD:620743 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury;protein:increased expression:kidney PMID:16284088|REF_RGD_ID:1601494 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:1612 breast cancer ISO RGD:1344234 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17004110|REF_RGD_ID:1643590 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:2154 nephroblastoma ISO RGD:620743 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:9808158|REF_RGD_ID:2289034 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:289 endometriosis ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:3770 pulmonary fibrosis ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17975199 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:4001 ovarian carcinoma ISO RGD:1344234 D RGD:9068941 20200609 RGD protein:increased expression:ovary PMID:15277215|REF_RGD_ID:2289032 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:4297 scimitar syndrome ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Total anomalous pulmonary venous return PMID:28492532 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1344234 D RGD:9068941 20200609 RGD PMID:17644140|REF_RGD_ID:1643589 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:557 kidney disease ISO RGD:620743 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:16549155|REF_RGD_ID:2289038 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:630 genetic disease ISO RGD:1344234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19855013 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:6419 tetralogy of Fallot ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:8398 osteoarthritis ISO RGD:1553810 D RGD:9068941 20220825 MouseDO OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9000217 Stomach Neoplasms ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9000955 Acute Otitis Media ISO RGD:1553810 D RGD:9068941 20210611 RGD mRNA:increased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344234 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;mRNA:increased expression:bone PMID:12539225|REF_RGD_ID:2289033 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:1344234 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:breast PMID:17895257|REF_RGD_ID:2289029 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9001547 Tibial Fractures ISO RGD:620743 D RGD:9068941 20200609 RGD protein:increased expression:tibia PMID:16651391|REF_RGD_ID:2289037 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17127702 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:620743 D RGD:9068941 20230209 RGD protein:increased expression:lung, pulmonary artery (rat) PMID:31542483|REF_RGD_ID:155888480 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620743 D RGD:9068941 20200609 RGD PMID:17437042|REF_RGD_ID:2289036 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881|PMID:19283074 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9002589 Bone Fractures ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27394662 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9002809 Congenital Heart Defects, Multiple Types, 4 ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9003959 Ventricular Septal Defect 1 ISO RGD:1344234 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 1 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9007402 Gliosis ISO RGD:620743 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17696121|REF_RGD_ID:1643225 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9008763 Femoral Fractures ISO RGD:1344234 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16234978 9029342 Bmp7 bone morphogenetic protein 7 gene DOID:9008763 Femoral Fractures ISO RGD:620743 D RGD:9068941 20200609 RGD PMID:9626398|REF_RGD_ID:2289041 9029353 Osbpl11 oxysterol binding protein like 11 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1316402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 9029353 Osbpl11 oxysterol binding protein like 11 gene DOID:630 genetic disease ISO RGD:1316402 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029353 Osbpl11 oxysterol binding protein like 11 gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1316402 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 9029353 Osbpl11 oxysterol binding protein like 11 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1316402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 9029353 Osbpl11 oxysterol binding protein like 11 gene DOID:9270 alkaptonuria ISO RGD:1316402 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9029371 Armc5 armadillo repeat containing 5 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1315235 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 9029371 Armc5 armadillo repeat containing 5 gene DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 ISO RGD:1315235 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9029371 Armc5 armadillo repeat containing 5 gene DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 ISO RGD:1315235 D RGD:7240710 20180130 OMIM 9029371 Armc5 armadillo repeat containing 5 gene DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 ISO RGD:1315235 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 2 | ClinVar Annotator: match by term: ARMC5-related condition PMID:24283224|PMID:24601692|PMID:24708098|PMID:24905064|PMID:25741868|PMID:27094308|PMID:28492532|PMID:32117062|PMID:35368666|PMID:36727580 9029371 Armc5 armadillo repeat containing 5 gene DOID:630 genetic disease ISO RGD:1315235 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9029381 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1348834 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 9029381 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:0111434 optic atrophy 10 ISO RGD:1348834 D RGD:7240710 20180130 OMIM 9029381 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:0111434 optic atrophy 10 ISO RGD:1348834 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition PMID:25741868|PMID:26593267|PMID:28492532|PMID:28638143|PMID:29181510|PMID:31077085 9029381 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:0112117 combined oxidative phosphorylation deficiency 40 ISO RGD:1348834 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 40 PMID:25741868|PMID:28492532 9029381 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:5723 optic atrophy ISO RGD:1348834 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868 9029381 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:630 genetic disease ISO RGD:1348834 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:29181510|PMID:33841295|PMID:9536098 9029381 Rtn4ip1 reticulon 4 interacting protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1348834 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:33037779 9029394 F9 coagulation factor IX gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:735620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9029394 F9 coagulation factor IX gene DOID:0060903 thrombosis ISO RGD:735620 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thrombus PMID:19846852|PMID:25741868|PMID:7937052 9029394 F9 coagulation factor IX gene DOID:0080839 X-linked warfarin sensitivity ISO RGD:735620 D RGD:7240710 20201118 OMIM 9029394 F9 coagulation factor IX gene DOID:0080839 X-linked warfarin sensitivity ISO RGD:735620 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: COUMARIN SENSITIVITY, X-LINKED | ClinVar Annotator: match by term: Warfarin sensitivity, X-linked PMID:10094553|PMID:10698280|PMID:19699296|PMID:2066105|PMID:22639855|PMID:2370049|PMID:24375831|PMID:2472424|PMID:25741868|PMID:2762170|PMID:2773937|PMID:28492532|PMID:28722788|PMID:2929599|PMID:29450643|PMID:29923114|PMID:30576981|PMID:31064749|PMID:3262389|PMID:35842956|PMID:3651597|PMID:7937052|PMID:8320491|PMID:8833911|PMID:9233593|PMID:9525872 9029394 F9 coagulation factor IX gene DOID:0111899 X-linked thrombophilia due to factor IX defect ISO RGD:735620 D RGD:7240710 20180130 OMIM 9029394 F9 coagulation factor IX gene DOID:0111899 X-linked thrombophilia due to factor IX defect ISO RGD:735620 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thrombophilia, X-linked, due to factor IX defect PMID:10094553|PMID:10192459|PMID:10373456|PMID:10595634|PMID:10698280|PMID:10739381|PMID:10874302|PMID:11122099|PMID:11328285|PMID:12588353|PMID:12687663|PMID:1346077|PMID:1346975|PMID:14675097|PMID:15178576|PMID:15569175|PMID:15921378|PMID:1615486|PMID:16643212|PMID:1680287|PMID:17014892|PMID:18479429|PMID:18624698|PMID:1864609|PMID:1873221|PMID:19286883|PMID:1968152|PMID:19699296|PMID:19846852|PMID:2066105|PMID:2087690|PMID:2198809|PMID:22103590|PMID:2220823|PMID:22544209|PMID:22639855|PMID:23093250|PMID:23617593|PMID:2370049|PMID:24375831|PMID:2450455|PMID:2472424|PMID:24759143|PMID:25326637|PMID:2564457|PMID:25741868|PMID:25851415|PMID:2592373|PMID:2741941|PMID:2752109|PMID:27529981|PMID:2762170|PMID:27734074|PMID:2773937|PMID:27865967|PMID:28193338|PMID:28492532|PMID:28722788|PMID:2929599|PMID:29517974|PMID:29656491|PMID:29993188|PMID:31064749|PMID:31272859|PMID:3181127|PMID:32155688|PMID:32267853|PMID:32581362|PMID:3262389|PMID:32875744|PMID:34272389|PMID:34355501|PMID:34590426|PMID:34626083|PMID:34708896|PMID:35770352|PMID:35842956|PMID:3651597|PMID:3857619|PMID:5298508|PMID:6603618|PMID:734633|PMID:7482402|PMID:7797466|PMID:7873393|PMID:7937052|PMID:8055323|PMID:8091381|PMID:8257988|PMID:8314564|PMID:8320491|PMID:8401514|PMID:8470048|PMID:8680410|PMID:8772212|PMID:9222764|PMID:9450791|PMID:9525872 9029394 F9 coagulation factor IX gene DOID:12134 factor VIII deficiency ISO RGD:735620 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital PMID:10094553|PMID:10192459|PMID:10373456|PMID:10595634|PMID:10698280|PMID:10739381|PMID:10874302|PMID:11122099|PMID:11328285|PMID:12588353|PMID:12687663|PMID:1346975|PMID:14675097|PMID:15178576|PMID:15569175|PMID:15921378|PMID:1615486|PMID:16643212|PMID:1680287|PMID:17014892|PMID:18479429|PMID:1864609|PMID:1873221|PMID:1968152|PMID:19699296|PMID:2066105|PMID:2087690|PMID:2198809|PMID:22103590|PMID:2220823|PMID:22544209|PMID:22639855|PMID:23093250|PMID:24375831|PMID:2472424|PMID:24759143|PMID:25326637|PMID:25741868|PMID:2752109|PMID:27529981|PMID:27734074|PMID:2773937|PMID:27865967|PMID:28193338|PMID:28492532|PMID:28722788|PMID:2929599|PMID:29656491|PMID:29993188|PMID:31064749|PMID:3181127|PMID:32155688|PMID:32267853|PMID:32581362|PMID:34272389|PMID:34355501|PMID:34590426|PMID:34708896|PMID:35770352|PMID:5298508|PMID:6603618|PMID:7482402|PMID:7797466|PMID:7873393|PMID:7937052|PMID:8055323|PMID:8091381|PMID:8257988|PMID:8314564|PMID:8320491|PMID:8401514|PMID:8470048|PMID:8680410|PMID:8772212|PMID:9222764|PMID:9450791 9029394 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:735620 D RGD:7240710 20180130 OMIM 9029394 F9 coagulation factor IX gene DOID:12259 hemophilia B ISO RGD:735620 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: Hemophilia B Brandenburg | ClinVar Annotator: match by term: Hemophilia B leyden | ClinVar Annotator: match by term: Hemophilia B, Factor IX Deficiency | ClinVar Annotator: match by term: Hemophilia b(m) | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease PMID:10090477|PMID:10094553|PMID:10192459|PMID:10373456|PMID:10595634|PMID:10647899|PMID:10698280|PMID:10739381|PMID:10874302|PMID:10942410|PMID:10980527|PMID:11013449|PMID:11122099|PMID:11328285|PMID:12588353|PMID:12687663|PMID:12709378|PMID:12780784|PMID:12997790|PMID:1346077|PMID:1346975|PMID:1357229|PMID:14675097|PMID:15086324|PMID:1517205|PMID:15178576|PMID:15569175|PMID:15613048|PMID:1579901|PMID:15921378|PMID:1598234|PMID:1615485|PMID:1615486|PMID:16199547|PMID:16270648|PMID:1631121|PMID:1631558|PMID:16643212|PMID:1680287|PMID:1680373|PMID:17014892|PMID:1733855|PMID:17397055|PMID:17576681|PMID:1796396|PMID:18479429|PMID:18540896|PMID:18624698|PMID:1864609|PMID:1873221|PMID:1897528|PMID:1902289|PMID:19236374|PMID:19262239|PMID:19286883|PMID:19522246|PMID:1958666|PMID:1968152|PMID:19686262|PMID:1969838|PMID:19699296|PMID:1972560|PMID:19763152|PMID:19815722|PMID:19846852|PMID:1986380|PMID:1998585|PMID:2004020|PMID:20059559|PMID:2020563|PMID:20301668|PMID:20305539|PMID:20307669|PMID:2066105|PMID:20695909|PMID:2087690|PMID:2093364|PMID:2111833|PMID:21118338|PMID:2198809|PMID:22103590|PMID:2212858|PMID:2220823|PMID:22406018|PMID:22544209|PMID:22639855|PMID:2270538|PMID:22707612|PMID:23093250|PMID:2320433|PMID:2339358|PMID:2342576|PMID:23472758|PMID:2352926|PMID:2355000|PMID:23617593|PMID:23689273|PMID:2370049|PMID:2372509|PMID:2388855|PMID:23913812|PMID:23998594|PMID:24375831|PMID:2438804|PMID:2450455|PMID:24533955|PMID:2472424|PMID:24759143|PMID:24816826|PMID:2494175|PMID:25251685|PMID:25326637|PMID:25470321|PMID:25582609|PMID:2563663|PMID:2564457|PMID:2570235|PMID:25741868|PMID:25851415|PMID:2592373|PMID:25929987|PMID:26612714|PMID:27109384|PMID:2714791|PMID:27213901|PMID:27227676|PMID:2738071|PMID:2741941|PMID:2743975|PMID:27501440|PMID:2752109|PMID:27529981|PMID:2753873|PMID:2757966|PMID:2762170|PMID:27734074|PMID:2773937|PMID:2775660|PMID:27824213|PMID:27865967|PMID:28168417|PMID:28193338|PMID:2821070|PMID:2831715|PMID:2841226|PMID:2846283|PMID:2848757|PMID:28492532|PMID:28722788|PMID:2873459|PMID:28752769|PMID:2875754|PMID:28834196|PMID:2886685|PMID:2917196|PMID:2929599|PMID:29296726|PMID:29405493|PMID:29450643|PMID:29517974|PMID:29656491|PMID:29923114|PMID:2992643|PMID:29993188|PMID:3009023|PMID:3029178|PMID:30576981|PMID:30648777|PMID:30817051|PMID:31026269|PMID:31064749|PMID:31234407|PMID:31272859|PMID:31395865|PMID:3181127|PMID:31840356|PMID:32155688|PMID:32267853|PMID:3243764|PMID:32581362|PMID:32596782|PMID:3262389|PMID:32766856|PMID:32875744|PMID:32935414|PMID:3392024|PMID:3401602|PMID:3411192|PMID:3416069|PMID:34272389|PMID:34355501|PMID:34590426|PMID:3461460|PMID:34626083|PMID:34708896|PMID:34880139|PMID:35391506|PMID:35770352|PMID:35842956|PMID:36163649|PMID:3651597|PMID:3790720|PMID:3857619|PMID:3965513|PMID:4033760|PMID:4045960|PMID:4163943|PMID:5298508|PMID:5450691|PMID:6603618|PMID:6843667|PMID:7062952|PMID:7101232|PMID:734633|PMID:7482402|PMID:7677806|PMID:7734378|PMID:7797466|PMID:7873393|PMID:7937052|PMID:7989034|PMID:8055323|PMID:8091381|PMID:8178822|PMID:8199596|PMID:8217825|PMID:8251390|PMID:8257988|PMID:8304338|PMID:8314564|PMID:8318985|PMID:8320491|PMID:8352232|PMID:8365725|PMID:8392713|PMID:8401514|PMID:8412791|PMID:8434583|PMID:8463288|PMID:8470048|PMID:8499919|PMID:8499951|PMID:8594556|PMID:8602635|PMID:8680410|PMID:8772212|PMID:8825645|PMID:8833911|PMID:884315|PMID:8990015|PMID:9222764|PMID:9450791|PMID:9525872|PMID:9536098|PMID:9590153|PMID:9600455 9029394 F9 coagulation factor IX gene DOID:12259 hemophilia B treatment ISO RGD:735620 D RGD:9068941 20200609 RGD PMID:20351275|PMID:21122306|REF_RGD_ID:10450761|REF_RGD_ID:10450764 9029394 F9 coagulation factor IX gene DOID:1247 blood coagulation disease ISO RGD:735620 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormality of coagulation PMID:2066105|PMID:23093250|PMID:25326637|PMID:25741868|PMID:27529981|PMID:27865967|PMID:28492532|PMID:29656491|PMID:31064749|PMID:34355501|PMID:34708896 9029394 F9 coagulation factor IX gene DOID:12849 autistic disorder ISO RGD:735620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9029394 F9 coagulation factor IX gene DOID:1790 malignant mesothelioma ISO RGD:735620 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 9029394 F9 coagulation factor IX gene DOID:630 genetic disease ISO RGD:735620 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19846852|PMID:25741868|PMID:7937052 9029394 F9 coagulation factor IX gene DOID:9004484 Sepsis treatment ISO RGD:2589 D RGD:9068941 20200609 RGD PMID:12000738|REF_RGD_ID:1598921 9029394 F9 coagulation factor IX gene DOID:9352 type 2 diabetes mellitus ISO RGD:735620 D RGD:9068941 20200609 RGD protein:increased activity:plasma (human) PMID:7974333|REF_RGD_ID:2312416 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:0060041 autism spectrum disorder ISO RGD:731482 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:731482 D RGD:7240710 20190315 OMIM 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:731482 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54 PMID:16199547|PMID:17576681|PMID:22678713|PMID:23708187|PMID:23934111|PMID:25356899|PMID:25356970|PMID:25741868|PMID:26467025|PMID:27652284|PMID:28166811|PMID:28283832|PMID:28492532|PMID:28815871|PMID:28944577|PMID:29170628|PMID:29758562|PMID:30866059|PMID:32319732|PMID:32488064|PMID:35138025|PMID:35571021|PMID:9536098 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:1059 intellectual disability ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:1540 parathyroid carcinoma ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:1826 epilepsy ISO RGD:731482 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25326635|PMID:25741868|PMID:28815871 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:630 genetic disease ISO RGD:731482 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:26845106|PMID:28393272|PMID:28492532 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9001793 Generalized Epilepsy ISO RGD:731482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:22678713|PMID:25326635|PMID:25741868|PMID:28283832|PMID:28492532|PMID:28815871 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9004000 Senior-Loken Syndrome 7 ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731482 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9005154 Myoclonic Epilepsies ISO RGD:731482 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myoclonic absence seizure PMID:25741868|PMID:28492532 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731482 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9029406 Hnrnpu heterogeneous nuclear ribonucleoprotein U gene DOID:9256 colorectal cancer ISO RGD:731482 D RGD:9068941 20200609 RGD protein:decreased expression:colonic epithelium, nucleus (human) PMID:21194727|REF_RGD_ID:9999439 9029429 Mep1a meprin A subunit alpha gene DOID:630 genetic disease ISO RGD:735747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029429 Mep1a meprin A subunit alpha gene DOID:9002928 Colonic Neoplasms ISO RGD:735747 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 9029450 Ccdc107 coiled-coil domain containing 107 gene DOID:0050640 anauxetic dysplasia 1 ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 1 PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 9029450 Ccdc107 coiled-coil domain containing 107 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9029450 Ccdc107 coiled-coil domain containing 107 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1605844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 9029450 Ccdc107 coiled-coil domain containing 107 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1605844 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9029450 Ccdc107 coiled-coil domain containing 107 gene DOID:0080942 anauxetic dysplasia ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 9029450 Ccdc107 coiled-coil domain containing 107 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1605844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 9029450 Ccdc107 coiled-coil domain containing 107 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9029450 Ccdc107 coiled-coil domain containing 107 gene DOID:14773 cartilage-hair hypoplasia ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, McKusick type PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 9029450 Ccdc107 coiled-coil domain containing 107 gene DOID:630 genetic disease ISO RGD:1605844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029450 Ccdc107 coiled-coil domain containing 107 gene DOID:9007249 Metaphyseal Dysplasia without Hypotrichosis ISO RGD:1605844 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Metaphyseal dysplasia without hypotrichosis PMID:10026268|PMID:11207361|PMID:11940090|PMID:12107819|PMID:12888988|PMID:14569119|PMID:16097009|PMID:16254002|PMID:16838329|PMID:17701897|PMID:25741868|PMID:28094436|PMID:28492532|PMID:8034306|PMID:9156319 9029450 Ccdc107 coiled-coil domain containing 107 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605844 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9029450 Ccdc107 coiled-coil domain containing 107 gene DOID:9870 galactosemia ISO RGD:1605844 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9029460 Hmx3 H6 family homeobox 3 gene DOID:630 genetic disease ISO RGD:1603243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029478 Sox8 SRY-box transcription factor 8 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1319208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 9029478 Sox8 SRY-box transcription factor 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1319208 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 9029478 Sox8 SRY-box transcription factor 8 gene DOID:1826 epilepsy ISO RGD:1319208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9029478 Sox8 SRY-box transcription factor 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1319208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9029478 Sox8 SRY-box transcription factor 8 gene DOID:574 peripheral nervous system disease ISO RGD:1319208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 9029478 Sox8 SRY-box transcription factor 8 gene DOID:630 genetic disease ISO RGD:1319208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029478 Sox8 SRY-box transcription factor 8 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:1319208 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 9029485 Amigo2 adhesion molecule with Ig like domain 2 gene DOID:1909 melanoma treatment ISO RGD:1553273 D RGD:9068941 20200609 RGD PMID:26553931|REF_RGD_ID:14392781 9029485 Amigo2 adhesion molecule with Ig like domain 2 gene DOID:3717 gastric adenocarcinoma ISO RGD:736884 D RGD:9068941 20200609 RGD mRNA:increased expression:serosa of stomach (human) PMID:15107827|REF_RGD_ID:13838842 9029485 Amigo2 adhesion molecule with Ig like domain 2 gene DOID:630 genetic disease ISO RGD:736884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029485 Amigo2 adhesion molecule with Ig like domain 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1553273 D RGD:9068941 20200609 RGD Liver Metastasis PMID:28272394|REF_RGD_ID:14394499 9029485 Amigo2 adhesion molecule with Ig like domain 2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis severity ISO RGD:1553273 D RGD:9068941 20200609 RGD PMID:28119027|REF_RGD_ID:14392778 9029485 Amigo2 adhesion molecule with Ig like domain 2 gene DOID:9002909 Oxygen-Induced Retinopathy treatment ISO RGD:1553273 D RGD:9068941 20200609 RGD PMID:26553931|REF_RGD_ID:14392781 9029502 Plac9 placenta associated 9 gene DOID:630 genetic disease ISO RGD:1315403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029502 Plac9 placenta associated 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9029511 Pla2g2c phospholipase A2 group IIC gene DOID:0060369 Parkinson's disease 6 ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 9029511 Pla2g2c phospholipase A2 group IIC gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1349993 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9029511 Pla2g2c phospholipase A2 group IIC gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1349993 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 9029511 Pla2g2c phospholipase A2 group IIC gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 9029511 Pla2g2c phospholipase A2 group IIC gene DOID:630 genetic disease ISO RGD:1349993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029511 Pla2g2c phospholipase A2 group IIC gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1349993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9029519 Cfap221 cilia and flagella associated protein 221 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606685 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:31636325 9029559 Gmeb1 glucocorticoid modulatory element binding protein 1 gene DOID:630 genetic disease ISO RGD:1603227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029585 Znf7 zinc finger protein 7 gene DOID:630 genetic disease ISO RGD:1321655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0050563 nonsyndromic deafness ISO RGD:731649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:16648378|PMID:17492394|PMID:18544103|PMID:20301750|PMID:21917145|PMID:24033266|PMID:25741868|PMID:26346818|PMID:28492532|PMID:29529044|PMID:30311386|PMID:32567228 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0050952 spastic ataxia ISO RGD:731649 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:12955714|PMID:15605410|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:33879153|PMID:34445196 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0080584 autosomal dominant Wolfram syndrome ISO RGD:731649 D RGD:7240710 20180130 OMIM 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0080584 autosomal dominant Wolfram syndrome ISO RGD:731649 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant PMID:10521293|PMID:10679252|PMID:11244483|PMID:11295831|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12754709|PMID:12955714|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16648378|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:19877185|PMID:20028947|PMID:20069065|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:21917145|PMID:22238590|PMID:23373429|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25048417|PMID:25133958|PMID:25211237|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26284228|PMID:26346818|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27167055|PMID:27217304|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28468959|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31850070|PMID:31980526|PMID:32219690|PMID:32350710|PMID:32567228|PMID:32883240|PMID:32938580|PMID:33046911|PMID:33841295|PMID:33879153|PMID:33980734|PMID:34356170|PMID:34445196|PMID:34556497|PMID:34746052|PMID:35206658|PMID:35602877|PMID:36208030|PMID:36597107|PMID:36729443|PMID:9771706|PMID:9817917|PMID:9856492 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0080924 bilateral perisylvian polymicrogyria ISO RGD:731649 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome PMID:25741868|PMID:28492532|PMID:29529044 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0110241 cataract 41 ISO RGD:731649 D RGD:7240710 20180130 OMIM 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0110241 cataract 41 ISO RGD:731649 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE | ClinVar Annotator: match by term: Cataract 41 PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11260218|PMID:11295831|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12707373|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17568405|PMID:17576681|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21356526|PMID:21446023|PMID:21538838|PMID:21564155|PMID:21602428|PMID:23373429|PMID:23429432|PMID:23531866|PMID:23981289|PMID:24033266|PMID:24088041|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25542043|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26633545|PMID:26969326|PMID:27068579|PMID:27167055|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28271504|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30663027|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31363008|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31638168|PMID:31980526|PMID:32179840|PMID:32350710|PMID:32700054|PMID:32883240|PMID:33046911|PMID:33297549|PMID:33841295|PMID:33879153|PMID:33980734|PMID:34356170|PMID:34404380|PMID:34445196|PMID:34556497|PMID:34573359|PMID:34746052|PMID:35206658|PMID:35469785|PMID:35602877|PMID:36208030|PMID:36597107|PMID:36729443|PMID:9536098|PMID:9771706|PMID:9817917|PMID:9856492 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0110584 autosomal dominant nonsyndromic deafness 6 ISO RGD:731649 D RGD:7240710 20180130 OMIM 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0110584 autosomal dominant nonsyndromic deafness 6 ISO RGD:731649 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 PMID:10521293|PMID:10624825|PMID:10679252|PMID:10760554|PMID:11161832|PMID:11244483|PMID:11295831|PMID:11317350|PMID:11694551|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12181639|PMID:12490066|PMID:12565131|PMID:12754709|PMID:12782971|PMID:12955714|PMID:15008830|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15852062|PMID:15912360|PMID:16151413|PMID:16408729|PMID:16648378|PMID:16806192|PMID:17492394|PMID:17517145|PMID:17576681|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:18806274|PMID:19042979|PMID:19292454|PMID:19877185|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21127832|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:21917145|PMID:22238590|PMID:22938506|PMID:23257691|PMID:23373429|PMID:23429432|PMID:23535966|PMID:23595122|PMID:23845777|PMID:23856252|PMID:23981289|PMID:23990876|PMID:24033266|PMID:24875298|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25392243|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25842391|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26346818|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27167055|PMID:27185633|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:28870582|PMID:28974383|PMID:28993341|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31363008|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31765440|PMID:31980526|PMID:32350710|PMID:32567228|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:33980734|PMID:34356170|PMID:34445196|PMID:34556497|PMID:34737607|PMID:34746052|PMID:34803393|PMID:35206658|PMID:35452662|PMID:35469785|PMID:35472603|PMID:35602877|PMID:36208030|PMID:36597107|PMID:36729443|PMID:8595423|PMID:9536098|PMID:9771706|PMID:9817917|PMID:9856492 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0110629 Wolfram syndrome 1 ISO RGD:731649 D RGD:7240710 20180919 OMIM 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0110629 Wolfram syndrome 1 ISO RGD:731649 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 PMID:10521293|PMID:10624825|PMID:10679252|PMID:10760554|PMID:11161832|PMID:11244483|PMID:11260218|PMID:11295831|PMID:11317350|PMID:1161832|PMID:11694551|PMID:11709537|PMID:11709538|PMID:11811080|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12565131|PMID:12754709|PMID:12782971|PMID:12913071|PMID:12955714|PMID:15008830|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15852062|PMID:15912360|PMID:16151413|PMID:16195229|PMID:16199547|PMID:16648378|PMID:16806192|PMID:17492394|PMID:17517145|PMID:17568405|PMID:17576681|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18660851|PMID:18688868|PMID:18806274|PMID:19042979|PMID:19292454|PMID:19344068|PMID:19877185|PMID:20028947|PMID:20160352|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21127832|PMID:21143470|PMID:21446023|PMID:21454619|PMID:21538838|PMID:21602428|PMID:21917145|PMID:22226368|PMID:22238590|PMID:22662265|PMID:22797899|PMID:22938506|PMID:23257691|PMID:23373429|PMID:23429432|PMID:23535966|PMID:23595122|PMID:23596069|PMID:23845777|PMID:23856252|PMID:23981289|PMID:23990876|PMID:24033266|PMID:24088041|PMID:24117146|PMID:24227685|PMID:24424032|PMID:24497219|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25173644|PMID:25211237|PMID:25250959|PMID:25262649|PMID:25388789|PMID:25392243|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25842391|PMID:25895475|PMID:26025012|PMID:26284228|PMID:26346818|PMID:26435059|PMID:26467025|PMID:26633545|PMID:26773575|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27167055|PMID:27185633|PMID:27395765|PMID:27434582|PMID:27468121|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28468959|PMID:28492532|PMID:28502252|PMID:28559085|PMID:28802351|PMID:28870582|PMID:28993341|PMID:29048421|PMID:29183106|PMID:29207974|PMID:29447883|PMID:29529044|PMID:29563951|PMID:29632382|PMID:30014265|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30773290|PMID:30957632|PMID:31264968|PMID:31266054|PMID:31313226|PMID:31343797|PMID:31363008|PMID:31391115|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31604968|PMID:31759989|PMID:31765440|PMID:31850070|PMID:31980526|PMID:32141364|PMID:32179840|PMID:32350710|PMID:32382995|PMID:32567228|PMID:32883240|PMID:32938580|PMID:33046911|PMID:33116287|PMID:33538814|PMID:33763535|PMID:33841295|PMID:3387915|PMID:33879153|PMID:33980734|PMID:34258273|PMID:34356170|PMID:34404380|PMID:34445196|PMID:34556497|PMID:34737607|PMID:34746052|PMID:34789499|PMID:34803393|PMID:34970515|PMID:35206658|PMID:35452662|PMID:35602877|PMID:36208030|PMID:36597107|PMID:36729443|PMID:8808601|PMID:9536098|PMID:9771706|PMID:9817917|PMID:9856492 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30180840|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31600780|PMID:32141364|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34746052 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731649 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16353398|PMID:16806192|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:19344068|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22226368|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23595122|PMID:23596069|PMID:23967202|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25289672|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27185633|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29207974|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30014265|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30773290|PMID:30957632|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31604968|PMID:31759989|PMID:32141364|PMID:32179840|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:9856492 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731649 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16353398|PMID:16806192|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:19344068|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22226368|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23595122|PMID:23596069|PMID:23967202|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25289672|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27167055|PMID:27185633|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29207974|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30014265|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30773290|PMID:30957632|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31604968|PMID:31759989|PMID:31980526|PMID:32141364|PMID:32179840|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33841295|PMID:33879153|PMID:34356170|PMID:34404380|PMID:34556497|PMID:34746052|PMID:35206658|PMID:36208030|PMID:9856492 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731649 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:19344068|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22226368|PMID:22238590|PMID:23257691|PMID:23373429|PMID:23429432|PMID:23596069|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27167055|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29207974|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30014265|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30773290|PMID:30957632|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31980526|PMID:32141364|PMID:32350710|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:33980734|PMID:34356170|PMID:34556497|PMID:34746052|PMID:35206658|PMID:35602877|PMID:36208030|PMID:9771706|PMID:9856492 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731649 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16353398|PMID:16806192|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:19344068|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22226368|PMID:22238590|PMID:23257691|PMID:23373429|PMID:23429432|PMID:23595122|PMID:23596069|PMID:23967202|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25289672|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27167055|PMID:27185633|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29207974|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30014265|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30773290|PMID:30957632|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31604968|PMID:31759989|PMID:31980526|PMID:32141364|PMID:32179840|PMID:32350710|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33763535|PMID:33841295|PMID:33879153|PMID:33980734|PMID:34356170|PMID:34404380|PMID:34445196|PMID:34556497|PMID:34573359|PMID:34746052|PMID:35206658|PMID:35469785|PMID:35602877|PMID:36208030|PMID:36597107|PMID:36729443|PMID:9771706|PMID:9856492 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:0111441 optic atrophy 1 ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:missense mutations, deletion:multiple PMID:21538838|REF_RGD_ID:7800683 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:10003 sensorineural hearing loss ISO RGD:731649 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss PMID:12107816|PMID:22238590|PMID:24033266|PMID:25741868|PMID:28492532 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:10603 glucose intolerance treatment ISO XCO:0000907 D RGD:9068941 20211022 RGD PMID:29976929|REF_RGD_ID:150519890 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:10632 Wolfram syndrome ISO RGD:731649 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome PMID:10521293|PMID:11161832|PMID:11244483|PMID:1161832|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15277431|PMID:16806192|PMID:17568405|PMID:17603484|PMID:18060660|PMID:19344068|PMID:20301750|PMID:20738327|PMID:21446023|PMID:21602428|PMID:22226368|PMID:22238590|PMID:23429432|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:26875006|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30773290|PMID:30957632|PMID:31567480|PMID:32141364|PMID:33763535|PMID:33879153|PMID:34404380 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:11832 visual epilepsy treatment ISO RGD:68954 D RGD:9068941 20200609 RGD PMID:19799711|REF_RGD_ID:8694408 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:12849 autistic disorder ISO RGD:731649 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26435059|PMID:26969326|PMID:28492532|PMID:29529044|PMID:32883240|PMID:33879153|PMID:36597107|PMID:36729443 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:2055 post-traumatic stress disorder treatment ISO RGD:68954 D RGD:9068941 20200609 RGD PMID:17968352|REF_RGD_ID:8694407 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:2785 Dandy-Walker syndrome ISO RGD:731649 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:10521293|PMID:17568405|PMID:18700423|PMID:20888932|PMID:25741868|PMID:28432734|PMID:28492532 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:5723 optic atrophy ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R456H (rs1801206) (human) PMID:23595122|REF_RGD_ID:8694404 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:630 genetic disease ISO RGD:731649 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521293|PMID:11161832|PMID:11295831|PMID:11317350|PMID:11709537|PMID:11811080|PMID:11920861|PMID:12073007|PMID:12707373|PMID:12913071|PMID:12955714|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18700423|PMID:19042979|PMID:19877185|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:20888932|PMID:21067485|PMID:21143470|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23429432|PMID:23990876|PMID:24033266|PMID:24875298|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25173644|PMID:25211237|PMID:25714468|PMID:25741868|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27167055|PMID:27395765|PMID:27468121|PMID:28432734|PMID:28492532|PMID:29048421|PMID:29529044|PMID:29563951|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30957632|PMID:31264968|PMID:31343797|PMID:31363008|PMID:31391115|PMID:31521625|PMID:31600780|PMID:31765440|PMID:31850070|PMID:31980526|PMID:32883240|PMID:33046911|PMID:33841295|PMID:33879153|PMID:34356170|PMID:34404380|PMID:34556497|PMID:35206658|PMID:35469785|PMID:35472603|PMID:36208030|PMID:36597107|PMID:36729443|PMID:9856492 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:6678 tooth and nail syndrome ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:83 cataract ISO RGD:731649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:83 cataract onset ISO RGD:68954 D RGD:9068941 20210806 RGD PMID:28860598|REF_RGD_ID:149735331 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:731649 D RGD:9068941 20231026 RGD DNA:SNP:: (rs10010131) (Human) PMID:28821857|REF_RGD_ID:401850599 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9000053 Headache ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.H611R (human) PMID:17719176|REF_RGD_ID:8694403 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9001890 Auditory Neuropathy ISO RGD:731649 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9004538 Hearing Loss ISO RGD:731649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:11161832|PMID:11317350|PMID:12073007|PMID:15605410|PMID:22238590|PMID:23429432|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25048417|PMID:25211237|PMID:25741868|PMID:27395765|PMID:28492532|PMID:29563951|PMID:30311386|PMID:31343797|PMID:31391115|PMID:31765440|PMID:31850070 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:731649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:21446023|PMID:21602428|PMID:24033266|PMID:28492532|PMID:33879153 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9351 diabetes mellitus ISO RGD:731649 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Diabetes | ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10521293|PMID:10624825|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:11317350|PMID:11694551|PMID:11709537|PMID:11709538|PMID:11811080|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12565131|PMID:12707373|PMID:12754709|PMID:12782971|PMID:12913071|PMID:12955714|PMID:15008830|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15852062|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:19344068|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21446023|PMID:21602428|PMID:22226368|PMID:22238590|PMID:22797899|PMID:23429432|PMID:23595122|PMID:23596069|PMID:23981289|PMID:24033266|PMID:24497219|PMID:24875298|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25173644|PMID:25211237|PMID:25262649|PMID:25497598|PMID:25741868|PMID:25842391|PMID:25895475|PMID:26025012|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27395765|PMID:27468121|PMID:27617222|PMID:28432734|PMID:28492532|PMID:28502252|PMID:28559085|PMID:29207974|PMID:29529044|PMID:29563951|PMID:30014265|PMID:30180840|PMID:30311386|PMID:30957632|PMID:31264968|PMID:31343797|PMID:31391115|PMID:31567480|PMID:31600780|PMID:31638168|PMID:31765440|PMID:31850070|PMID:32179840|PMID:33046911|PMID:33538814|PMID:33763535|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34573359|PMID:34746052|PMID:34789499|PMID:35452662|PMID:35469785|PMID:35472603 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9351 diabetes mellitus onset ISO RGD:68954 D RGD:9068941 20210806 RGD PMID:28860598|REF_RGD_ID:149735331 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:7240710 20180130 OMIM 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:16151413|PMID:16806192|PMID:17492394|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25326637|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29529044|PMID:29632382|PMID:29988211|PMID:30311386|PMID:30773290|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31600780|PMID:31604968|PMID:31759989|PMID:32141364|PMID:32179840|PMID:33116287|PMID:33879153|PMID:34746052|PMID:9856492 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16353398|PMID:16806192|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:19344068|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22226368|PMID:22238590|PMID:23257691|PMID:23429432|PMID:23595122|PMID:23596069|PMID:23967202|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25289672|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27185633|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29207974|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30014265|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30773290|PMID:30957632|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31604968|PMID:31759989|PMID:32141364|PMID:32179840|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33841295|PMID:33879153|PMID:34404380|PMID:34746052|PMID:9856492 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus ISO RGD:731649 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10521293|PMID:10679252|PMID:11161832|PMID:11244483|PMID:11295831|PMID:1161832|PMID:11709537|PMID:11709538|PMID:11916957|PMID:11920861|PMID:12073007|PMID:12107816|PMID:12754709|PMID:12955714|PMID:15151504|PMID:15234338|PMID:15277431|PMID:15473915|PMID:15605410|PMID:15912360|PMID:16151413|PMID:16353398|PMID:16806192|PMID:17492394|PMID:17568405|PMID:17603484|PMID:18040659|PMID:18060660|PMID:18414213|PMID:18544103|PMID:18688868|PMID:19042979|PMID:19292454|PMID:19344068|PMID:20028947|PMID:20301750|PMID:20738327|PMID:20875904|PMID:21067485|PMID:21143470|PMID:21446023|PMID:21538838|PMID:21602428|PMID:22226368|PMID:22238590|PMID:23257691|PMID:23373429|PMID:23429432|PMID:23595122|PMID:23596069|PMID:23967202|PMID:23981289|PMID:24033266|PMID:24890733|PMID:24909696|PMID:25133958|PMID:25262649|PMID:25289672|PMID:25388789|PMID:25497598|PMID:25714468|PMID:25741868|PMID:25895475|PMID:26025012|PMID:26064370|PMID:26284228|PMID:26435059|PMID:26467025|PMID:26875006|PMID:26969326|PMID:27068579|PMID:27167055|PMID:27185633|PMID:27395765|PMID:27617222|PMID:27911912|PMID:27959697|PMID:28432734|PMID:28492532|PMID:28559085|PMID:28802351|PMID:29207974|PMID:29529044|PMID:29563951|PMID:29632382|PMID:29988211|PMID:30014265|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30773290|PMID:30957632|PMID:31264968|PMID:31313226|PMID:31521625|PMID:31567480|PMID:31600780|PMID:31604968|PMID:31759989|PMID:31980526|PMID:32141364|PMID:32179840|PMID:32350710|PMID:32883240|PMID:33046911|PMID:33116287|PMID:33763535|PMID:33841295|PMID:33879153|PMID:33980734|PMID:34356170|PMID:34404380|PMID:34445196|PMID:34556497|PMID:34573359|PMID:34746052|PMID:35206658|PMID:35469785|PMID:35602877|PMID:36208030|PMID:36597107|PMID:36729443|PMID:9771706|PMID:9856492 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:SNPs: :rs734312, rs752854, rs10010131 (human) PMID:18060660|REF_RGD_ID:8694399 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :rs734312, rs752854, rs10010131 (human) PMID:21713316|REF_RGD_ID:8694400 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9744 type 1 diabetes mellitus ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R456H (human) PMID:10679252|REF_RGD_ID:8694402 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9744 type 1 diabetes mellitus ISO RGD:731650 D RGD:9068941 20200609 RGD PMID:15056606|REF_RGD_ID:8694393 9029607 Wfs1 wolframin ER transmembrane glycoprotein gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:731649 D RGD:9068941 20200609 RGD DNA:mutations:exons, 5' utr, 3' utr:multiple PMID:15008830|REF_RGD_ID:8694396 9029621 Ninj1 ninjurin 1 gene DOID:0080600 COVID-19 ISO RGD:737046 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9029621 Ninj1 ninjurin 1 gene DOID:3042 allergic contact dermatitis ISO RGD:737046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 9029621 Ninj1 ninjurin 1 gene DOID:630 genetic disease ISO RGD:737046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029629 Slc49a4 solute carrier family 49 member 4 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1322124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 9029629 Slc49a4 solute carrier family 49 member 4 gene DOID:2394 ovarian cancer ISO RGD:1322124 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 9029629 Slc49a4 solute carrier family 49 member 4 gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1322124 D RGD:9068941 20200609 RGD DNA:translocation:intron:t(2;3)(q35;q21) PMID:11912179|REF_RGD_ID:1601072 9029629 Slc49a4 solute carrier family 49 member 4 gene DOID:630 genetic disease ISO RGD:1322124 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029629 Slc49a4 solute carrier family 49 member 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1322124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 9029629 Slc49a4 solute carrier family 49 member 4 gene DOID:9270 alkaptonuria ISO RGD:1322124 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9029646 Zyg11a zyg-11 family member A, cell cycle regulator gene DOID:630 genetic disease ISO RGD:1601783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:10534 stomach cancer disease_progression ISO RGD:1346993 D RGD:9068941 20200609 RGD PMID:24752577|REF_RGD_ID:14390158 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:14654 prostatitis ISO RGD:1346993 D RGD:9068941 20200609 RGD associated with prostatic hypertrophy;mRNA,protein:decreased expression:prostate: PMID:27243216|REF_RGD_ID:14390161 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:1712 aortic valve stenosis ISO RGD:1346993 D RGD:9068941 20200609 RGD protein:increased expression:myocardium: PMID:23168040|REF_RGD_ID:14390160 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1346993 D RGD:9068941 20200609 RGD mRNA:increased expression:CD4+ T : PMID:27549738|REF_RGD_ID:14390164 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346993 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung: PMID:20716422|REF_RGD_ID:14390157 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:5082 liver cirrhosis ISO RGD:1346993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30097701 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:6000 congestive heart failure ISO RGD:1346993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:630 genetic disease ISO RGD:1346993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:9000039 Spinal Cord Injuries ISO RGD:621831 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:spinal cord: PMID:28035406|REF_RGD_ID:14390163 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:9000081 Lymphatic Metastasis ISO RGD:1346993 D RGD:9068941 20200609 RGD associated with stomach cancer; protein:increased expression: : PMID:24752577|REF_RGD_ID:14390158 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:9003936 Cardiomegaly ISO RGD:1346993 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29394407 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:9256 colorectal cancer ISO RGD:1346993 D RGD:9068941 20200609 RGD PMID:29085481|REF_RGD_ID:14390156 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:9256 colorectal cancer disease_progression ISO RGD:1346993 D RGD:9068941 20200609 RGD PMID:18756595|REF_RGD_ID:14390154 9029664 Bambi BMP and activin membrane bound inhibitor gene DOID:9970 obesity ISO RGD:736709 D RGD:9068941 20200609 RGD mRNA:decreased expression:adipose tissue PMID:22187378|REF_RGD_ID:14390162 9029664 Bambi BMP and activin membrane-bound inhibitor gene DOID:9004319 Ventricular Outflow Obstruction ISO RGD:736709 D RGD:9068941 20200609 RGD protein:increased expression:myocardium: PMID:23168040|REF_RGD_ID:14390160 9029676 Pfkl phosphofructokinase, liver type gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:731398 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 9029676 Pfkl phosphofructokinase, liver type gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:731398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 9029676 Pfkl phosphofructokinase, liver type gene DOID:0110266 cataract 9 multiple types ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 9029676 Pfkl phosphofructokinase, liver type gene DOID:12849 autistic disorder ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9029676 Pfkl phosphofructokinase, liver type gene DOID:630 genetic disease ISO RGD:731398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029676 Pfkl phosphofructokinase, liver type gene DOID:891 progressive myoclonus epilepsy ISO RGD:731398 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 9029676 Pfkl phosphofructokinase, liver type gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9029676 Pfkl phosphofructokinase, liver type gene DOID:9263 homocystinuria ISO RGD:731398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 9029676 Pfkl phosphofructokinase, liver type gene DOID:9562 primary ciliary dyskinesia ISO RGD:731398 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9029718 Tcap titin-cap gene DOID:0050451 Brugada syndrome ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 9029718 Tcap titin-cap gene DOID:0050700 cardiomyopathy ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:16911908|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25741868|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27532257|PMID:28492532|PMID:29884292|PMID:30871747|PMID:31303467 9029718 Tcap titin-cap gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1348921 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:27930701|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32233023|PMID:32451364|PMID:32565061|PMID:32880476|PMID:34540776|PMID:35026164 9029718 Tcap titin-cap gene DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G ISO RGD:1348921 D RGD:7240710 20180130 OMIM 9029718 Tcap titin-cap gene DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G ISO RGD:1348921 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18414213|PMID:18585512|PMID:18948002|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25326637|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:27055092|PMID:27532257|PMID:27618135|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29447731|PMID:29884292|PMID:29935994|PMID:30531895|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32140910|PMID:32233023|PMID:32451364|PMID:32528171|PMID:32880476|PMID:34540776|PMID:35026164 9029718 Tcap titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:16911908|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27532257|PMID:28166811|PMID:28492532|PMID:30871747|PMID:31303467 9029718 Tcap titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:15582318|PMID:16911908|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31303467|PMID:31983221|PMID:32233023|PMID:32451364 9029718 Tcap titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32233023|PMID:32451364|PMID:32880476|PMID:35026164 9029718 Tcap titin-cap gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1348921 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:10655062|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:27930701|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29884292|PMID:30531895|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31980526|PMID:31983221|PMID:32233023|PMID:32451364|PMID:32565061|PMID:32880476|PMID:34540776|PMID:35026164 9029718 Tcap titin-cap gene DOID:0110310 hypertrophic cardiomyopathy 4 ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:12507422|PMID:15582318|PMID:28492532 9029718 Tcap titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:7240710 20180130 OMIM 9029718 Tcap titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:10655062|PMID:12507422|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:17576681|PMID:18408010|PMID:18414213|PMID:18585512|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21520333|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27066551|PMID:27532257|PMID:27618135|PMID:28492532|PMID:29797799|PMID:30871747|PMID:31303467|PMID:31983221|PMID:32005491|PMID:32451364|PMID:32761539|PMID:32880476|PMID:9536098 9029718 Tcap titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:10655062|PMID:12507422|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:17576681|PMID:18408010|PMID:18414213|PMID:18585512|PMID:18948002|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25724973|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27066551|PMID:27532257|PMID:27618135|PMID:27930701|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29447731|PMID:29797799|PMID:29884292|PMID:29935994|PMID:30531895|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31308319|PMID:31980526|PMID:31983221|PMID:32005491|PMID:32140910|PMID:32233023|PMID:32451364|PMID:32528171|PMID:32565061|PMID:32588437|PMID:32761539|PMID:32880476|PMID:34540776|PMID:35026164|PMID:9536098 9029718 Tcap titin-cap gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348921 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:10655062|PMID:12507422|PMID:15582318|PMID:16352453|PMID:16911908|PMID:17097056|PMID:17576681|PMID:18408010|PMID:18414213|PMID:18585512|PMID:18948002|PMID:19035361|PMID:19412328|PMID:20215591|PMID:20474083|PMID:21530252|PMID:21959314|PMID:22194935|PMID:23299917|PMID:23479141|PMID:23861362|PMID:24033266|PMID:24037902|PMID:24503780|PMID:25055047|PMID:25298746|PMID:25351510|PMID:25724973|PMID:25741868|PMID:26084686|PMID:26332198|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27066551|PMID:27532257|PMID:27618135|PMID:27930701|PMID:28492532|PMID:28518168|PMID:28771489|PMID:29447731|PMID:29797799|PMID:29884292|PMID:29935994|PMID:29970176|PMID:30531895|PMID:30564623|PMID:30847666|PMID:30871747|PMID:31114860|PMID:31303467|PMID:31308319|PMID:31980526|PMID:31983221|PMID:32005491|PMID:32140910|PMID:32233023|PMID:32451364|PMID:32528171|PMID:32565061|PMID:32588437|PMID:32761539|PMID:32880476|PMID:34540776|PMID:35026164|PMID:9536098 9029718 Tcap titin-cap gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase PMID:25741868 9029718 Tcap titin-cap gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1348921 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16352453|PMID:17097056|PMID:19035361|PMID:20474083|PMID:22194935|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26084686|PMID:26350513|PMID:26467025|PMID:26636822|PMID:27055092|PMID:27532257|PMID:28492532|PMID:31114860|PMID:31980526|PMID:32451364|PMID:32880476|PMID:34540776|PMID:35026164 9029718 Tcap titin-cap gene DOID:12930 dilated cardiomyopathy ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10655062|PMID:23479141|PMID:25298746|PMID:25741868|PMID:27618135|PMID:28492532 9029718 Tcap titin-cap gene DOID:12930 dilated cardiomyopathy ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10655062|PMID:24037902|PMID:25298746|PMID:25741868|PMID:27618135|PMID:28492532 9029718 Tcap titin-cap gene DOID:12930 dilated cardiomyopathy ISO RGD:1348921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10655062|PMID:23479141|PMID:24037902|PMID:25298746|PMID:25741868|PMID:27618135|PMID:28492532 9029718 Tcap titin-cap gene DOID:2843 long QT syndrome ISO RGD:1348921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26636822|PMID:28492532 9029718 Tcap titin-cap gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1348921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:28771489|PMID:32233023 9029718 Tcap titin-cap gene DOID:630 genetic disease ISO RGD:1348921 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29447731|PMID:30564623 9029718 Tcap titin-cap gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1348921 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666|PMID:31983221 9029718 Tcap titin-cap gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1348921 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 9029718 Tcap titin-cap gene DOID:9005141 Ventricular Tachycardia ISO RGD:1348921 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532|PMID:30847666|PMID:31983221 9029748 Rheb Ras homolog, mTORC1 binding gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 9029748 Rheb Ras homolog, mTORC1 binding gene DOID:1826 epilepsy ISO RGD:1353122 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 9029748 Rheb Ras homolog, mTORC1 binding gene DOID:2671 transitional cell carcinoma ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 9029748 Rheb Ras homolog, mTORC1 binding gene DOID:2843 long QT syndrome ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 9029748 Rheb Ras homolog, mTORC1 binding gene DOID:363 uterine cancer ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant neoplasm of body of uterus PMID:26619011 9029748 Rheb Ras homolog, mTORC1 binding gene DOID:3908 lung non-small cell carcinoma ISO RGD:1353122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20554106 9029748 Rheb Ras homolog, mTORC1 binding gene DOID:4450 renal cell carcinoma ISO RGD:1353122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:26619011 9029748 Rheb Ras homolog, mTORC1 binding gene DOID:4465 papillary renal cell carcinoma ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 9029748 Rheb Ras homolog, mTORC1 binding gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1353122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26619011 9029748 Rheb Ras homolog, mTORC1 binding gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:1353122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:26619011 9029748 Rheb Ras homolog, mTORC1 binding gene DOID:9008237 Hemimegalencephaly ISO RGD:1353122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:30414531 9029763 Avil advillin gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:731808 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868|PMID:29058690 9029763 Avil advillin gene DOID:0111486 combined oxidative phosphorylation deficiency 3 ISO RGD:731808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 PMID:25741868 9029763 Avil advillin gene DOID:0112267 nephrotic syndrome type 21 ISO RGD:731808 D RGD:7240710 20191030 OMIM 9029763 Avil advillin gene DOID:0112267 nephrotic syndrome type 21 ISO RGD:731808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 21 PMID:25741868|PMID:29058690 9029763 Avil advillin gene DOID:630 genetic disease ISO RGD:731808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029789 Rhoxf1 Rhox homeobox family member 1 gene DOID:0050437 Danon disease ISO RGD:1603173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 9029789 Rhoxf1 Rhox homeobox family member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9029789 Rhoxf1 Rhox homeobox family member 1 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1603173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 9029789 Rhoxf1 Rhox homeobox family member 1 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1603173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 9029789 Rhoxf1 Rhox homeobox family member 1 gene DOID:12849 autistic disorder ISO RGD:1603173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9029789 Rhoxf1 Rhox homeobox family member 1 gene DOID:630 genetic disease ISO RGD:1603173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029794 Zscan31 zinc finger and SCAN domain containing 31 gene DOID:11372 megacolon ISO RGD:1605639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9029794 Zscan31 zinc finger and SCAN domain containing 31 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605639 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:28722770 9029794 Zscan31 zinc finger and SCAN domain containing 31 gene DOID:630 genetic disease ISO RGD:1605639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1351292 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy PMID:24033266|PMID:24995870|PMID:25741868|PMID:26384929|PMID:27261973|PMID:27600704|PMID:28492532|PMID:28673551|PMID:33040525 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1351292 D RGD:7240710 20180130 OMIM 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1351292 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:10615133|PMID:15249368|PMID:15347646|PMID:16199547|PMID:17576681|PMID:18414213|PMID:24033266|PMID:24995870|PMID:25741868|PMID:26384929|PMID:26467025|PMID:26960556|PMID:27261973|PMID:27600704|PMID:27913086|PMID:28327206|PMID:28492532|PMID:28673551|PMID:30054523|PMID:31780880|PMID:32551328|PMID:33040525|PMID:33063863|PMID:33258288|PMID:34233239|PMID:34489640|PMID:9536098 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:0110332 Leber congenital amaurosis 4 ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1351292 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:10907 microcephaly ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:12177 common variable immunodeficiency ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:2729 dyskeratosis congenita ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:630 genetic disease ISO RGD:1351292 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:24995870|PMID:25741868|PMID:26384929|PMID:26467025|PMID:26960556|PMID:27261973|PMID:27600704|PMID:27913086|PMID:28327206|PMID:28492532|PMID:28673551|PMID:34233239 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:9001793 Generalized Epilepsy ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:32581362 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1351292 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065 9029802 Slc13a5 solute carrier family 13 member 5 gene DOID:9452 steatotic liver disease ISO RGD:1351292 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26303333 9029822 Wif1 WNT inhibitory factor 1 gene DOID:0050685 small cell carcinoma ISO RGD:731989 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:14517837|REF_RGD_ID:727214 9029822 Wif1 WNT inhibitory factor 1 gene DOID:10283 prostate cancer ISO RGD:731989 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:prostate gland PMID:14517837|REF_RGD_ID:727214 9029822 Wif1 WNT inhibitory factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731989 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:18325051|REF_RGD_ID:2291868 9029822 Wif1 WNT inhibitory factor 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:731989 D RGD:9068941 20200609 RGD protein:decreased expression:urinary bladder PMID:14517837|REF_RGD_ID:727214 9029822 Wif1 WNT inhibitory factor 1 gene DOID:1612 breast cancer ISO RGD:731989 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:16501252|REF_RGD_ID:2291871 9029822 Wif1 WNT inhibitory factor 1 gene DOID:2154 nephroblastoma ISO RGD:731989 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:16575872|REF_RGD_ID:2291870 9029822 Wif1 WNT inhibitory factor 1 gene DOID:2999 granulosa cell tumor ISO RGD:1552191 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16488995|REF_RGD_ID:1643593 9029822 Wif1 WNT inhibitory factor 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:731989 D RGD:9068941 20200609 RGD protein:decreased expression:breast PMID:14517837|REF_RGD_ID:727214 9029822 Wif1 WNT inhibitory factor 1 gene DOID:4450 renal cell carcinoma ISO RGD:731989 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17145819|REF_RGD_ID:2291869 9029822 Wif1 WNT inhibitory factor 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9029822 Wif1 WNT inhibitory factor 1 gene DOID:630 genetic disease ISO RGD:731989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029822 Wif1 WNT inhibitory factor 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:731989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17384664 9029822 Wif1 WNT inhibitory factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:731989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9029822 Wif1 WNT inhibitory factor 1 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:731989 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16436637|REF_RGD_ID:2298535 9029822 Wif1 WNT inhibitory factor 1 gene DOID:9005207 Nasopharyngeal Neoplasms ISO RGD:731989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17384664 9029822 Wif1 WNT inhibitory factor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:731989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031 9029843 Rbks ribokinase gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1320751 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9029843 Rbks ribokinase gene DOID:630 genetic disease ISO RGD:1320751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029858 Psma4 proteasome 20S subunit alpha 4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:735266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 9029858 Psma4 proteasome 20S subunit alpha 4 gene DOID:2717 Bloom syndrome ISO RGD:735266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9029858 Psma4 proteasome 20S subunit alpha 4 gene DOID:305 carcinoma ISO RGD:735266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9029858 Psma4 proteasome 20S subunit alpha 4 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:735266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 9029858 Psma4 proteasome 20S subunit alpha 4 gene DOID:630 genetic disease ISO RGD:735266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029858 Psma4 proteasome 20S subunit alpha 4 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:735266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9029858 Psma4 proteasome 20S subunit alpha 4 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:735266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9029858 Psma4 proteasome 20S subunit alpha 4 gene DOID:9007188 Liver Neoplasms ISO RGD:735266 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20195826 9029858 Psma4 proteasome 20S subunit alpha 4 gene DOID:9256 colorectal cancer ISO RGD:735266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9029880 Cript CXXC repeat containing interactor of PDZ3 domain gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:736668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:24389050|PMID:25558065 9029880 Cript CXXC repeat containing interactor of PDZ3 domain gene DOID:3883 Lynch syndrome ISO RGD:736668 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 9029880 Cript CXXC repeat containing interactor of PDZ3 domain gene DOID:630 genetic disease ISO RGD:736668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9029880 Cript CXXC repeat containing interactor of PDZ3 domain gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:736668 D RGD:7240710 20180130 OMIM 9029880 Cript CXXC repeat containing interactor of PDZ3 domain gene DOID:9004904 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES ISO RGD:736668 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies PMID:24389050|PMID:25558065|PMID:25741868|PMID:27250922|PMID:31101064 9029890 Pald1 phosphatase domain containing paladin 1 gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1346451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:28492532 9029890 Pald1 phosphatase domain containing paladin 1 gene DOID:630 genetic disease ISO RGD:1346451 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029890 Pald1 phosphatase domain containing paladin 1 gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1346451 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal PMID:28492532 9029927 Actrt3 actin related protein T3 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1607001 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 9029927 Actrt3 actin related protein T3 gene DOID:1062 Fanconi syndrome ISO RGD:1607001 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 9029927 Actrt3 actin related protein T3 gene DOID:630 genetic disease ISO RGD:1607001 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029933 Ppm1n protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) gene DOID:630 genetic disease ISO RGD:1604993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029961 S100a14 S100 calcium binding protein A14 gene DOID:0111940 immunodeficiency 42 ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9029961 S100a14 S100 calcium binding protein A14 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9029961 S100a14 S100 calcium binding protein A14 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1344968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9029961 S100a14 S100 calcium binding protein A14 gene DOID:1540 parathyroid carcinoma ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9029961 S100a14 S100 calcium binding protein A14 gene DOID:5812 MHC class II deficiency ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9029961 S100a14 S100 calcium binding protein A14 gene DOID:630 genetic disease ISO RGD:1344968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9029961 S100a14 S100 calcium binding protein A14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9029969 Septin9 septin 9 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1349459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532|PMID:32122354 9029969 Septin9 septin 9 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1349459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 9029969 Septin9 septin 9 gene DOID:10383 amyotrophic neuralgia ISO RGD:1349459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA) PMID:16186812|PMID:17546647|PMID:18492087|PMID:19139049|PMID:19204161|PMID:19451530|PMID:20019224|PMID:20301569|PMID:22981636|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28503616|PMID:31619932 9029969 Septin9 septin 9 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1349459 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25025039|PMID:28492532 9029969 Septin9 septin 9 gene DOID:3689 brachial plexus neuritis ISO RGD:1349459 D RGD:7240710 20180130 OMIM 9029969 Septin9 septin 9 gene DOID:3689 brachial plexus neuritis ISO RGD:1349459 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic neuralgia | ClinVar Annotator: match by term: Hereditary Neuralgic Amyotrophy (HNA) PMID:16186812|PMID:17546647|PMID:18492087|PMID:19139049|PMID:19204161|PMID:19451530|PMID:20019224|PMID:20301569|PMID:22981636|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28503616|PMID:31619932 9029969 Septin9 septin 9 gene DOID:630 genetic disease ISO RGD:1349459 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9029969 Septin9 septin 9 gene DOID:9001441 Adenomatous Polyps severity ISO RGD:1349459 D RGD:9068941 20220825 RGD DNA:altered methylation:plasma: PMID:20140221|REF_RGD_ID:153344541 9029969 Septin9 septin 9 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20388789 9029969 Septin9 septin 9 gene DOID:9119 acute myeloid leukemia ISO RGD:1349459 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10339604 9029969 Septin9 septin 9 gene DOID:9240 erythromelalgia ISO RGD:1349459 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy 9029969 Septin9 septin 9 gene DOID:9256 colorectal cancer ISO RGD:1349459 D RGD:9068941 20220825 RGD DNA:hypermethylation:urine: PMID:33504902|REF_RGD_ID:153344542 9030015 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:10652 Alzheimer's disease ISO RGD:1348143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868 9030015 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:3652 Leigh disease ISO RGD:1348143 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:37133451|PMID:8602753 9030015 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:630 genetic disease ISO RGD:1348143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030015 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:700 mitochondrial metabolism disease ISO RGD:1348143 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:37133451 9030015 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9030015 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:9005393 Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy ISO RGD:1348143 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy PMID:16369530|PMID:19047566 9030015 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:9005621 Combined Oxidative Phosphorylation Deficiency 59 ISO RGD:1348143 D RGD:7240710 20231213 OMIM 9030015 Mrpl39 mitochondrial ribosomal protein L39 gene DOID:9005621 Combined Oxidative Phosphorylation Deficiency 59 ISO RGD:1348143 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 59 PMID:25741868|PMID:37133451|PMID:8602753 9030029 Znf576 zinc finger protein 576 gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1353037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:28492532 9030029 Znf576 zinc finger protein 576 gene DOID:5419 schizophrenia ISO RGD:1353037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9030029 Znf576 zinc finger protein 576 gene DOID:630 genetic disease ISO RGD:1353037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:0050589 inflammatory bowel disease ISO RGD:1345772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1345772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:0060898 Parkinson's disease 20 ISO RGD:1345772 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1345772 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:0080600 COVID-19 ISO RGD:1345772 D RGD:9068941 20220407 CTD CTD Direct Evidence: marker/mechanism PMID:35255492 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:0081267 graft-versus-host disease disease_progression ISO RGD:1345772 D RGD:9068941 20200609 RGD DNA:SNP: :rs28341676 (human) PMID:19409109|REF_RGD_ID:11046269 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:0110909 inflammatory bowel disease 25 ISO RGD:1345772 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 25 PMID:16199547|PMID:16757563|PMID:17576681|PMID:19890111|PMID:21519361|PMID:22549091|PMID:24033266|PMID:24089328|PMID:24216686|PMID:25373860|PMID:25741868|PMID:27336593|PMID:27350736|PMID:27699073|PMID:28492532|PMID:29248579|PMID:29531467|PMID:30365510|PMID:31931724|PMID:9536098 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:0110909 inflammatory bowel disease 25 susceptibility ISO RGD:1345772 D RGD:7240710 20240320 OMIM 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:0111995 immunodeficiency 28 ISO RGD:1345772 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency 28 PMID:28492532 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:2043 hepatitis B ISO RGD:1345772 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to PMID:16757563|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29248579 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:2043 hepatitis B susceptibility ISO RGD:1345772 D RGD:7240710 20240320 OMIM 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:2316 brain ischemia ISO RGD:1345772 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1345772 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1560373 D RGD:9068941 20200609 RGD protein:increased expression:ileum PMID:21240009|REF_RGD_ID:5490305 9030080 Il10rb interleukin 10 receptor subunit beta gene DOID:9005698 ZTTK Syndrome ISO RGD:1345772 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 9030090 Rif1 replication timing regulatory factor 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868|PMID:28492532 9030090 Rif1 replication timing regulatory factor 1 gene DOID:0070336 arthrogryposis multiplex congenita-6 ISO RGD:1352449 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17576681|PMID:19339519|PMID:19805734|PMID:21520333|PMID:23726790|PMID:24033266|PMID:24056153|PMID:24725366|PMID:25205138|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26809612|PMID:26809617|PMID:26841830|PMID:28132693|PMID:28492532|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29669168|PMID:29754767|PMID:30057997|PMID:30467404|PMID:31230720|PMID:31696431|PMID:32222963|PMID:32337335|PMID:33442022|PMID:33742414|PMID:35586607|PMID:9536098 9030090 Rif1 replication timing regulatory factor 1 gene DOID:0110928 nemaline myopathy 2 ISO RGD:1352449 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:10051637|PMID:10931867|PMID:11309420|PMID:11851340|PMID:11994971|PMID:12207938|PMID:15266303|PMID:15336686|PMID:16199547|PMID:16917880|PMID:17525139|PMID:17576681|PMID:18414213|PMID:19339519|PMID:19763152|PMID:19805734|PMID:20307669|PMID:21148390|PMID:21520333|PMID:22406018|PMID:22941678|PMID:23443021|PMID:23726790|PMID:24033266|PMID:24046450|PMID:24056153|PMID:24725366|PMID:24972929|PMID:25110572|PMID:25205138|PMID:25296583|PMID:25332755|PMID:25356970|PMID:25525159|PMID:25589042|PMID:25589043|PMID:25740301|PMID:25741868|PMID:26019235|PMID:26197980|PMID:26403434|PMID:26467025|PMID:26562614|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27066551|PMID:27105866|PMID:27357428|PMID:27884173|PMID:28132693|PMID:28492532|PMID:29246625|PMID:29382405|PMID:29389947|PMID:29669168|PMID:29689380|PMID:29754767|PMID:29947179|PMID:29961767|PMID:30057997|PMID:30265400|PMID:30467404|PMID:30517146|PMID:30950222|PMID:31230720|PMID:31256874|PMID:31696431|PMID:31965297|PMID:32222963|PMID:32337335|PMID:33442022|PMID:33742414|PMID:34440373|PMID:35586607|PMID:7739042|PMID:9536098 9030090 Rif1 replication timing regulatory factor 1 gene DOID:3191 nemaline myopathy ISO RGD:1352449 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive | ClinVar Annotator: match by term: Nemaline myopathy PMID:12207938|PMID:15336686|PMID:16199547|PMID:16917880|PMID:19805734|PMID:23443021|PMID:24056153|PMID:25205138|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26019235|PMID:26403434|PMID:26467025|PMID:26809612|PMID:26809617|PMID:26841830|PMID:27105866|PMID:28132693|PMID:28492532|PMID:29246625|PMID:29389947|PMID:29669168|PMID:30057997|PMID:30467404|PMID:31230720|PMID:32222963|PMID:33442022 9030090 Rif1 replication timing regulatory factor 1 gene DOID:574 peripheral nervous system disease ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 9030090 Rif1 replication timing regulatory factor 1 gene DOID:630 genetic disease ISO RGD:1352449 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19339519|PMID:23726790|PMID:24033266|PMID:24725366|PMID:25205138|PMID:25356970|PMID:25741868|PMID:26467025|PMID:26562614|PMID:28492532|PMID:32222963|PMID:9536098 9030090 Rif1 replication timing regulatory factor 1 gene DOID:870 neuropathy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 9030090 Rif1 replication timing regulatory factor 1 gene DOID:9000123 Deglutition Disorders ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysphagia PMID:24056153|PMID:25205138|PMID:25741868|PMID:28492532 9030090 Rif1 replication timing regulatory factor 1 gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:25741868|PMID:28492532 9030090 Rif1 replication timing regulatory factor 1 gene DOID:9884 muscular dystrophy ISO RGD:1352449 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25205138|PMID:25741868|PMID:28492532 9030175 Fem1b fem-1 homolog B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1312083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9030175 Fem1b fem-1 homolog B gene DOID:2717 Bloom syndrome ISO RGD:1312083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9030175 Fem1b fem-1 homolog B gene DOID:630 genetic disease ISO RGD:1312083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030175 Fem1b fem-1 homolog B gene DOID:9256 colorectal cancer ISO RGD:1312083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9030175 Fem1b fem-1 homolog B gene DOID:9352 type 2 diabetes mellitus ISO RGD:1312084 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 9030185 Slc35b3 solute carrier family 35 member B3 gene DOID:630 genetic disease ISO RGD:1316221 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030206 Lgals3 galectin 3 gene DOID:0080600 COVID-19 ISO RGD:736304 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9030206 Lgals3 galectin 3 gene DOID:0080600 COVID-19 severity ISO RGD:736304 D RGD:9068941 20220217 RGD PMID:35115644|REF_RGD_ID:151356744 9030206 Lgals3 galectin 3 gene DOID:10763 hypertension treatment ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:23117656|REF_RGD_ID:9685203 9030206 Lgals3 galectin 3 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:69356 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:20557304|REF_RGD_ID:9685226 9030206 Lgals3 galectin 3 gene DOID:10952 nephritis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11044214 9030206 Lgals3 galectin 3 gene DOID:1712 aortic valve stenosis ISO RGD:736304 D RGD:9068941 20200609 RGD PMID:15520318|REF_RGD_ID:9685214 9030206 Lgals3 galectin 3 gene DOID:178 vascular disease ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27870162 9030206 Lgals3 galectin 3 gene DOID:1909 melanoma ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23994248 9030206 Lgals3 galectin 3 gene DOID:219 colon cancer treatment ISO RGD:69356 D RGD:9068941 20211210 RGD PMID:28032729|REF_RGD_ID:150530464 9030206 Lgals3 galectin 3 gene DOID:2316 brain ischemia ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:10931529|REF_RGD_ID:9685227 9030206 Lgals3 galectin 3 gene DOID:2841 asthma treatment ISO RGD:736304 D RGD:9068941 20200609 RGD PMID:16424226|REF_RGD_ID:9685213 9030206 Lgals3 galectin 3 gene DOID:3021 acute kidney failure ISO RGD:69356 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10980121|REF_RGD_ID:9685228 9030206 Lgals3 galectin 3 gene DOID:3070 high grade glioma disease_progression ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:23179497|REF_RGD_ID:9685225 9030206 Lgals3 galectin 3 gene DOID:5082 liver cirrhosis ISO RGD:736304 D RGD:9068941 20200609 RGD PMID:16549783|REF_RGD_ID:9685224 9030206 Lgals3 galectin 3 gene DOID:5844 myocardial infarction ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29769800 9030206 Lgals3 galectin 3 gene DOID:6000 congestive heart failure ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:15520318|REF_RGD_ID:9685214 9030206 Lgals3 galectin 3 gene DOID:630 genetic disease ISO RGD:736304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030206 Lgals3 galectin 3 gene DOID:8398 osteoarthritis ISO RGD:736304 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34894372 9030206 Lgals3 galectin 3 gene DOID:9000113 Pneumococcal Meningitis ISO RGD:69356 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:17706429|REF_RGD_ID:9685206 9030206 Lgals3 galectin 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17634542 9030206 Lgals3 galectin 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21750908 9030206 Lgals3 galectin 3 gene DOID:9000740 ST Elevation Myocardial Infarction ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29769800 9030206 Lgals3 galectin 3 gene DOID:9000784 Fibrosis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27870162 9030206 Lgals3 galectin 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25882088 9030206 Lgals3 galectin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:12646584|REF_RGD_ID:9685223 9030206 Lgals3 galectin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16549783|PMID:25380136 9030206 Lgals3 galectin 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736305 D RGD:9068941 20200609 RGD PMID:16549783|REF_RGD_ID:9685224 9030206 Lgals3 galectin 3 gene DOID:9002457 Experimental Arthritis ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:16507131|REF_RGD_ID:1625684 9030206 Lgals3 galectin 3 gene DOID:9002514 Neointima ISO RGD:69356 D RGD:9068941 20200609 RGD mRNA:increased expression:thoracic aorta PMID:9688561|REF_RGD_ID:9685205 9030206 Lgals3 galectin 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9030206 Lgals3 galectin 3 gene DOID:9004017 Chronic Hepatitis C ISO RGD:736304 D RGD:9068941 20200626 RGD mRNA:increased expression:CD19+Bcell: PMID:20189883|REF_RGD_ID:32716380 9030206 Lgals3 galectin 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:21249158|REF_RGD_ID:9685210 9030206 Lgals3 galectin 3 gene DOID:9005749 Necrosis ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461450 9030206 Lgals3 galectin 3 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:69356 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:10980121|REF_RGD_ID:9685228 9030206 Lgals3 galectin 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22461450 9030206 Lgals3 galectin 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16322222 9030206 Lgals3 galectin 3 gene DOID:9452 steatotic liver disease ISO RGD:736305 D RGD:9068941 20220825 MouseDO OMIM:228100 9030206 Lgals3 galectin 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:69356 D RGD:9068941 20200609 RGD PMID:16600178|REF_RGD_ID:9685204 9030226 Hcar1 hydroxycarboxylic acid receptor 1 gene DOID:630 genetic disease ISO RGD:1316071 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030231 Znf696 zinc finger protein 696 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1605338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9030231 Znf696 zinc finger protein 696 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1605338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9030231 Znf696 zinc finger protein 696 gene DOID:4621 holoprosencephaly ISO RGD:1605338 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 9030231 Znf696 zinc finger protein 696 gene DOID:630 genetic disease ISO RGD:1605338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030246 Ppl periplakin gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1313581 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:28492532 9030246 Ppl periplakin gene DOID:630 genetic disease ISO RGD:1313581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030246 Ppl periplakin gene DOID:9002304 Prostatic Neoplasms ISO RGD:1313581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0050783 secondary progressive multiple sclerosis ISO RGD:1348965 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Chronic progressive multiple sclerosis 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0050784 primary progressive multiple sclerosis ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic progressive multiple sclerosis 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0060211 amyotrophic lateral sclerosis type 20 ISO RGD:1348965 D RGD:7240710 20180130 OMIM 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0060211 amyotrophic lateral sclerosis type 20 ISO RGD:1348965 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 20 PMID:23455423|PMID:25741868 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0111189 distal myopathy 3 ISO RGD:1348965 D RGD:7240710 20230823 OMIM 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0111189 distal myopathy 3 ISO RGD:1348965 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 3 PMID:12847162|PMID:34722876 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 ISO RGD:1348965 D RGD:7240710 20180130 OMIM 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 PMID:20116073|PMID:23455423|PMID:25616961|PMID:25741868 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:10652 Alzheimer's disease ISO RGD:1348965 D RGD:9068941 20200609 RGD protein:decreased expression:entorhinal cortex (human) PMID:22628224|REF_RGD_ID:9999191 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Relapsing remitting multiple sclerosis 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:305 carcinoma ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:321 tropical spastic paraparesis ISO RGD:1348965 D RGD:9068941 20200609 RGD PMID:11984596|REF_RGD_ID:10045967 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1348965 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:20716340|REF_RGD_ID:9999189 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:630 genetic disease ISO RGD:1348965 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:684 hepatocellular carcinoma ISO RGD:1348965 D RGD:9068941 20200609 RGD protein:increased expression:liver (human) PMID:23633480|REF_RGD_ID:9685423 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348965 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9006205 Animal Disease Models ISO RGD:1348965 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9030277 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348965 D RGD:9068941 20200609 RGD protein:altered expression:colonic epithelium, nucleus, cytoplasm (human) PMID:21194727|REF_RGD_ID:9999439 9030311 Slc13a2 solute carrier family 13 member 2 gene DOID:630 genetic disease ISO RGD:736607 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030327 Serpine3 serpin family E member 3 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:2301110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 9030327 Serpine3 serpin family E member 3 gene DOID:1059 intellectual disability ISO RGD:2301110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9030327 Serpine3 serpin family E member 3 gene DOID:630 genetic disease ISO RGD:2301110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030327 Serpine3 serpin family E member 3 gene DOID:893 Wilson disease ISO RGD:2301110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:28492532 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1313636 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1313636 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1313636 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:0112104 Sotos syndrome 3 ISO RGD:1313637 D RGD:9068941 20200609 RGD PMID:25753423|REF_RGD_ID:11055469 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:12449 aplastic anemia ISO RGD:1313636 D RGD:9068941 20200609 RGD protein:decreased expression:bone marrow (human) PMID:28968996|REF_RGD_ID:14696669 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:1405 primary angle-closure glaucoma ISO RGD:1313636 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor of eyeball (human) PMID:29332228|REF_RGD_ID:14696671 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:1826 epilepsy ISO RGD:1313636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313636 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:12036940|REF_RGD_ID:14696682 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:5386 lung adenoma ISO RGD:1313636 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:14647414|REF_RGD_ID:10047051 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:630 genetic disease ISO RGD:1313636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1313636 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:25724728|REF_RGD_ID:14696679 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1313636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:9008023 Memory Disorders ISO RGD:1313637 D RGD:9068941 20200609 RGD PMID:21191042|REF_RGD_ID:14696672 9030338 Anapc2 anaphase promoting complex subunit 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1313636 D RGD:9068941 20200609 RGD mRNA:increased expression:blood (human) PMID:26046517|REF_RGD_ID:11067888 9030359 Dnaaf8 dynein axonemal assembly factor 8 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9030359 Dnaaf8 dynein axonemal assembly factor 8 gene DOID:0111668 Kohlschutter-Tonz syndrome ISO RGD:1604523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome PMID:28492532 9030359 Dnaaf8 dynein axonemal assembly factor 8 gene DOID:1826 epilepsy ISO RGD:1604523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9030359 Dnaaf8 dynein axonemal assembly factor 8 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604523 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9030359 Dnaaf8 dynein axonemal assembly factor 8 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1604523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17855048|PMID:18688873|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 9030373 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:735850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 9030373 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:0080271 nephrotic syndrome type 15 ISO RGD:735850 D RGD:7240710 20190315 OMIM 9030373 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:0080271 nephrotic syndrome type 15 ISO RGD:735850 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 15 PMID:18414213|PMID:25741868|PMID:26467025|PMID:27932480|PMID:28492532|PMID:30986657 9030373 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:10283 prostate cancer ISO RGD:735850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9030373 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:2030 anxiety disorder ISO RGD:735850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 9030373 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9030373 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:5419 schizophrenia ISO RGD:735850 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9030373 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:630 genetic disease ISO RGD:735850 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28106320|PMID:28492532 9030373 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:9002320 Neurobehavioral Manifestations ISO RGD:735850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 9030373 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:735850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 9030373 Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 gene DOID:9008023 Memory Disorders ISO RGD:735850 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25653350 9030402 Hrob homologous recombination factor with OB-fold gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1602101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 9030402 Hrob homologous recombination factor with OB-fold gene DOID:5426 primary ovarian insufficiency ISO RGD:1602101 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency 9030420 Hnrnpll heterogeneous nuclear ribonucleoprotein L like gene DOID:0080690 RASopathy ISO RGD:1353271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9030420 Hnrnpll heterogeneous nuclear ribonucleoprotein L like gene DOID:11211 buphthalmos ISO RGD:1353271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:19234632|PMID:28492532|PMID:31251480|PMID:9097971|PMID:9497261 9030420 Hnrnpll heterogeneous nuclear ribonucleoprotein L like gene DOID:3883 Lynch syndrome ISO RGD:1353271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 9030420 Hnrnpll heterogeneous nuclear ribonucleoprotein L like gene DOID:630 genetic disease ISO RGD:1353271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030436 Cldnd2 claudin domain containing 2 gene DOID:0060358 multiple acyl-CoA dehydrogenase deficiency ISO RGD:1604242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:16510302|PMID:23785301|PMID:28492532 9030436 Cldnd2 claudin domain containing 2 gene DOID:0080600 COVID-19 ISO RGD:1604242 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9030436 Cldnd2 claudin domain containing 2 gene DOID:630 genetic disease ISO RGD:1604242 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030452 Rit1 Ras like without CAAX 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 9030452 Rit1 Ras like without CAAX 1 gene DOID:0060233 cardiofaciocutaneous syndrome ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:28492532 9030452 Rit1 Ras like without CAAX 1 gene DOID:0060578 Noonan syndrome 1 ISO RGD:1343782 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Noonan syndrome 1 PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26518681|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30266093|PMID:30732632|PMID:30898653|PMID:31219622|PMID:31292302|PMID:31355538|PMID:32396283|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670|PMID:8462668 9030452 Rit1 Ras like without CAAX 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1343782 D RGD:7240710 20180130 OMIM 9030452 Rit1 Ras like without CAAX 1 gene DOID:0060586 Noonan syndrome 8 ISO RGD:1343782 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 | ClinVar Annotator: match by term: RIT1-related condition PMID:17576681|PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26518681|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:28323383|PMID:28347726|PMID:28492532|PMID:28554332|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30266093|PMID:30293990|PMID:30684668|PMID:30692697|PMID:30712878|PMID:30732632|PMID:30872527|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:31355538|PMID:31463572|PMID:31573083|PMID:32304219|PMID:32396283|PMID:32766847|PMID:32860008|PMID:33128510|PMID:33144663|PMID:33190430|PMID:33258288|PMID:33452774|PMID:33794220|PMID:34008892|PMID:34237269|PMID:34306696|PMID:34358384|PMID:35418694|PMID:36274670|PMID:7109146|PMID:8462668|PMID:9536098 9030452 Rit1 Ras like without CAAX 1 gene DOID:0080690 RASopathy ISO RGD:1343782 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:28347726|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:32304219|PMID:32396283|PMID:32860008|PMID:33144663|PMID:33452774|PMID:33794220|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668 9030452 Rit1 Ras like without CAAX 1 gene DOID:0080690 RASopathy ISO RGD:1343782 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:28323383|PMID:28347726|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30266093|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:32304219|PMID:32396283|PMID:32766847|PMID:32860008|PMID:33128510|PMID:33144663|PMID:33190430|PMID:33258288|PMID:33452774|PMID:33794220|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668 9030452 Rit1 Ras like without CAAX 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9030452 Rit1 Ras like without CAAX 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9030452 Rit1 Ras like without CAAX 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1343782 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9030452 Rit1 Ras like without CAAX 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9030452 Rit1 Ras like without CAAX 1 gene DOID:1682 congenital heart disease ISO RGD:1343782 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital heart disease PMID:23791108|PMID:24469055|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28323383|PMID:28492532|PMID:30266093|PMID:33190430|PMID:33258288 9030452 Rit1 Ras like without CAAX 1 gene DOID:1856 cherubism ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 9030452 Rit1 Ras like without CAAX 1 gene DOID:3490 Noonan syndrome ISO RGD:1343782 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:28323383|PMID:28347726|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30266093|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:31355538|PMID:32304219|PMID:32396283|PMID:32766847|PMID:32860008|PMID:33128510|PMID:33144663|PMID:33190430|PMID:33258288|PMID:33452774|PMID:33794220|PMID:34008892|PMID:34237269|PMID:34306696|PMID:34358384|PMID:35418694|PMID:36274670|PMID:7109146|PMID:8462668 9030452 Rit1 Ras like without CAAX 1 gene DOID:5812 MHC class II deficiency ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9030452 Rit1 Ras like without CAAX 1 gene DOID:630 genetic disease ISO RGD:1343782 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:24939608|PMID:25741868|PMID:25959749|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:28347726|PMID:28492532|PMID:29734338|PMID:30692697|PMID:30732632|PMID:30872527|PMID:32766847|PMID:33128510|PMID:33794220|PMID:8462668 9030452 Rit1 Ras like without CAAX 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1343782 D RGD:9068941 20220721 RGD human cells in mouse model PMID:31247273|REF_RGD_ID:152999016 9030452 Rit1 Ras like without CAAX 1 gene DOID:9000965 Neoplasm Metastasis ameliorates ISO RGD:1343782 D RGD:9068941 20220721 RGD associated with esophagus squamous cell carcinoma; human cells in mouse model PMID:30348939|REF_RGD_ID:152999018 9030452 Rit1 Ras like without CAAX 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1343782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9030452 Rit1 Ras like without CAAX 1 gene DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION PMID:24469055|PMID:25741868|PMID:28492532 9030452 Rit1 Ras like without CAAX 1 gene DOID:9003133 Hypertelorism ISO RGD:1343782 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:24033266|PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:28554332|PMID:29734338 9030452 Rit1 Ras like without CAAX 1 gene DOID:9007661 Dwarfism ISO RGD:1343782 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Short stature PMID:24033266|PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:28554332|PMID:29734338 9030452 Rit1 Ras like without CAAX 1 gene DOID:9008386 Hydrops Fetalis ISO RGD:1343782 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:23791108|PMID:24469055|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28323383|PMID:28492532|PMID:30266093|PMID:33190430|PMID:33258288 9030452 Rit1 Ras like without CAAX 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9030472 Erlin2 ER lipid raft associated 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1350824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 9030472 Erlin2 ER lipid raft associated 2 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1350824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:25741868 9030472 Erlin2 ER lipid raft associated 2 gene DOID:0110771 hereditary spastic paraplegia 18 ISO RGD:1350824 D RGD:7240710 20180130 OMIM 9030472 Erlin2 ER lipid raft associated 2 gene DOID:0110771 hereditary spastic paraplegia 18 ISO RGD:1350824 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT PMID:21330303|PMID:23109145|PMID:25741868|PMID:28492532|PMID:29528531|PMID:32094424 9030472 Erlin2 ER lipid raft associated 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1350824 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 9030472 Erlin2 ER lipid raft associated 2 gene DOID:1059 intellectual disability ISO RGD:1350824 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 9030472 Erlin2 ER lipid raft associated 2 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1350824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:28492532|PMID:28832565|PMID:32147972 9030472 Erlin2 ER lipid raft associated 2 gene DOID:607 paraplegia ISO RGD:1350824 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21330303|PMID:23109145|PMID:24482476|PMID:25741868|PMID:27824013|PMID:28492532|PMID:28832565|PMID:30564185|PMID:32094424|PMID:32147972|PMID:9536098 9030472 Erlin2 ER lipid raft associated 2 gene DOID:630 genetic disease ISO RGD:1350824 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28832565 9030472 Erlin2 ER lipid raft associated 2 gene DOID:9006534 Nervous System Malformations ISO RGD:1350824 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 9030494 S100a3 S100 calcium binding protein A3 gene DOID:0111940 immunodeficiency 42 ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9030494 S100a3 S100 calcium binding protein A3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9030494 S100a3 S100 calcium binding protein A3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:732253 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9030494 S100a3 S100 calcium binding protein A3 gene DOID:10283 prostate cancer ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9030494 S100a3 S100 calcium binding protein A3 gene DOID:1540 parathyroid carcinoma ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9030494 S100a3 S100 calcium binding protein A3 gene DOID:5812 MHC class II deficiency ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9030494 S100a3 S100 calcium binding protein A3 gene DOID:630 genetic disease ISO RGD:732253 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030494 S100a3 S100 calcium binding protein A3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732253 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9030511 Hook3 hook microtubule tethering protein 3 gene DOID:0090039 torsion dystonia 6 ISO RGD:1346925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 9030511 Hook3 hook microtubule tethering protein 3 gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1346925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 9030511 Hook3 hook microtubule tethering protein 3 gene DOID:0111959 immunodeficiency 15B ISO RGD:1346925 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 9030511 Hook3 hook microtubule tethering protein 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1346925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9030511 Hook3 hook microtubule tethering protein 3 gene DOID:630 genetic disease ISO RGD:1346925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030511 Hook3 hook microtubule tethering protein 3 gene DOID:9007546 Idiopathic Basal Ganglia Calcification 1 ISO RGD:1346925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 PMID:27726124 9030511 Hook3 hook microtubule tethering protein 3 gene DOID:9007661 Dwarfism ISO RGD:1346925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 9030511 Hook3 hook microtubule tethering protein 3 gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1346925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 9030550 CUNH8orf48 chromosome unknown C8orf48 homolog gene DOID:630 genetic disease ISO RGD:2304146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030556 Znf22 zinc finger protein 22 gene DOID:630 genetic disease ISO RGD:1318379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030562 Taf5 TATA-box binding protein associated factor 5 gene DOID:630 genetic disease ISO RGD:1322729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030578 Chgb chromogranin B gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737067 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 9030578 Chgb chromogranin B gene DOID:10283 prostate cancer ISO RGD:737067 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9030578 Chgb chromogranin B gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737067 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 9030578 Chgb chromogranin B gene DOID:630 genetic disease ISO RGD:737067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030597 Ramp1 receptor activity modifying protein 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:735949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9030597 Ramp1 receptor activity modifying protein 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:735949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9030597 Ramp1 receptor activity modifying protein 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:735949 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 9030597 Ramp1 receptor activity modifying protein 1 gene DOID:1059 intellectual disability ISO RGD:735949 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9030597 Ramp1 receptor activity modifying protein 1 gene DOID:630 genetic disease ISO RGD:735949 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030597 Ramp1 receptor activity modifying protein 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:735949 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9030597 Ramp1 receptor activity modifying protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735949 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:25741868 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070331 mitochondrial DNA depletion syndrome 8b ISO RGD:1314438 D RGD:7240710 20190515 OMIM 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0070331 mitochondrial DNA depletion syndrome 8b ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type) PMID:19125351|PMID:19667227|PMID:24741716|PMID:25741868|PMID:28492532|PMID:32161153 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:7240710 20180130 OMIM 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease PMID:17486094|PMID:17576681|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32313153|PMID:33300680|PMID:9536098 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32313153|PMID:33300680|PMID:8130196|PMID:9536098 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0080127 mitochondrial DNA depletion syndrome 8A ISO RGD:1314438 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19616983|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26546047|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:31521625|PMID:32161153|PMID:32313153|PMID:33300680|PMID:33858029|PMID:8130196|PMID:9536098 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1314438 D RGD:7240710 20180130 OMIM 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 ISO RGD:1314438 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 PMID:17486094|PMID:19664747|PMID:21378381|PMID:21646632|PMID:23107649|PMID:24741716|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:31521625 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:0111590 Cohen syndrome ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:10003 sensorineural hearing loss ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868|PMID:28492532|PMID:32827185|PMID:8279480 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:12558 chronic progressive external ophthalmoplegia ISO RGD:1314438 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25741868|PMID:28492532|PMID:32161153 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:3650 lactic acidosis ISO RGD:1314438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138848 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:557 kidney disease ISO RGD:1314438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138848 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:630 genetic disease ISO RGD:1314438 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:699 mitochondrial myopathy ISO RGD:1314438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17486094|PMID:19138848 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:700 mitochondrial metabolism disease ISO RGD:1314438 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:17576681|PMID:21646632|PMID:23107649|PMID:24741716|PMID:25741868|PMID:28492532|PMID:28812649|PMID:32313153|PMID:9536098 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9004493 Camptocormia ISO RGD:1314438 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bent Spine Syndrome PMID:17486094|PMID:21378381|PMID:24741716|PMID:25741868|PMID:28492532|PMID:31521625 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9004658 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction ISO RGD:1314438 D RGD:7240710 20220316 OMIM 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9004658 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction ISO RGD:1314438 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction PMID:17486094|PMID:21378381|PMID:24741716|PMID:25741868|PMID:28492532|PMID:31521625|PMID:32827185|PMID:8279480 9030604 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B gene DOID:9005603 Muscle Hypotonia ISO RGD:1314438 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19138848 9030627 Dpysl5 dihydropyrimidinase like 5 gene DOID:0060041 autism spectrum disorder ISO RGD:733917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9030627 Dpysl5 dihydropyrimidinase like 5 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:733917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 PMID:31474318|PMID:33894126|PMID:3812597 9030627 Dpysl5 dihydropyrimidinase like 5 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9030627 Dpysl5 dihydropyrimidinase like 5 gene DOID:2785 Dandy-Walker syndrome ISO RGD:733917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dandy-Walker syndrome PMID:31474318|PMID:33894126|PMID:3812597 9030627 Dpysl5 dihydropyrimidinase like 5 gene DOID:630 genetic disease ISO RGD:733917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030627 Dpysl5 dihydropyrimidinase like 5 gene DOID:9007567 Ritscher-Schinzel Syndrome 4 ISO RGD:733917 D RGD:7240710 20210728 OMIM 9030627 Dpysl5 dihydropyrimidinase like 5 gene DOID:9007567 Ritscher-Schinzel Syndrome 4 ISO RGD:733917 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 4 PMID:25741868|PMID:31474318|PMID:33894126|PMID:3812597 9030647 Prss41 serine protease 41 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:2301124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9030647 Prss41 serine protease 41 gene DOID:1826 epilepsy ISO RGD:2301124 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9030647 Prss41 serine protease 41 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:2301124 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9030647 Prss41 serine protease 41 gene DOID:630 genetic disease ISO RGD:2301124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030663 Cwh43 cell wall biogenesis 43 C-terminal homolog gene DOID:1572 normal pressure hydrocephalus ISO RGD:1332079 D RGD:9068941 20230309 MouseDO OMIM:236690 9030663 Cwh43 cell wall biogenesis 43 C-terminal homolog gene DOID:630 genetic disease ISO RGD:1602204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030663 Cwh43 cell wall biogenesis 43 C-terminal homolog gene DOID:9005172 Lung Neoplasms ISO RGD:1602204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 9030682 Atl1 atlastin GTPase 1 gene DOID:0070156 hereditary sensory neuropathy type 1D ISO RGD:1352093 D RGD:7240710 20180130 OMIM 9030682 Atl1 atlastin GTPase 1 gene DOID:0070156 hereditary sensory neuropathy type 1D ISO RGD:1352093 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 1D PMID:20862796|PMID:21194679|PMID:23664116|PMID:25741868|PMID:26467025|PMID:28492532 9030682 Atl1 atlastin GTPase 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant PMID:28492532 9030682 Atl1 atlastin GTPase 1 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1352093 D RGD:7240710 20180130 OMIM 9030682 Atl1 atlastin GTPase 1 gene DOID:0110791 hereditary spastic paraplegia 3A ISO RGD:1352093 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A PMID:10739752|PMID:11685207|PMID:12112092|PMID:12499504|PMID:12939451|PMID:14506257|PMID:14607301|PMID:14695538|PMID:15184642|PMID:15477516|PMID:15517445|PMID:15596607|PMID:15742100|PMID:15981243|PMID:16199547|PMID:16401858|PMID:16533974|PMID:16537571|PMID:16612642|PMID:17285536|PMID:17321752|PMID:17380240|PMID:17427918|PMID:17502470|PMID:17531128|PMID:17576681|PMID:17992088|PMID:18256395|PMID:19423133|PMID:19459885|PMID:19652243|PMID:19735987|PMID:19768483|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:20947813|PMID:21194679|PMID:21208200|PMID:21220294|PMID:21321493|PMID:21336785|PMID:21368113|PMID:21494555|PMID:2255281|PMID:22552817|PMID:22581552|PMID:23079343|PMID:23108492|PMID:23233086|PMID:23334294|PMID:23400676|PMID:23483706|PMID:23664116|PMID:23664119|PMID:23664120|PMID:23684613|PMID:23999326|PMID:24002164|PMID:24100245|PMID:24417445|PMID:24451228|PMID:24473461|PMID:24482476|PMID:24604904|PMID:24969372|PMID:25193411|PMID:25326635|PMID:25341883|PMID:25637064|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25761634|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26600529|PMID:26633542|PMID:26671083|PMID:26888483|PMID:26986070|PMID:27108959|PMID:27217339|PMID:27751653|PMID:27993330|PMID:28240257|PMID:28396731|PMID:28492532|PMID:28736820|PMID:29180453|PMID:29691679|PMID:29758562|PMID:29907907|PMID:29934652|PMID:29980238|PMID:30008475|PMID:30666337|PMID:30773365|PMID:30780198|PMID:31227335|PMID:31236401|PMID:31589614|PMID:31594988|PMID:31630374|PMID:31920481|PMID:32322428|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32989326|PMID:34546351|PMID:34715294|PMID:34782662|PMID:34808209|PMID:4684346|PMID:8252041|PMID:8981948|PMID:9246006|PMID:9341882|PMID:9536098 9030682 Atl1 atlastin GTPase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21194679|PMID:25741868 9030682 Atl1 atlastin GTPase 1 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:25741868 9030682 Atl1 atlastin GTPase 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1352093 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:11685207|PMID:14607301|PMID:15517445|PMID:15596607|PMID:15742100|PMID:16401858|PMID:16537571|PMID:16612642|PMID:17285536|PMID:17321752|PMID:17427918|PMID:17502470|PMID:19423133|PMID:19652243|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:20947813|PMID:21336785|PMID:21494555|PMID:22581552|PMID:23079343|PMID:23233086|PMID:23334294|PMID:23400676|PMID:24473461|PMID:24482476|PMID:24604904|PMID:25193411|PMID:25341883|PMID:25637064|PMID:25741868|PMID:25761634|PMID:26208798|PMID:26374131|PMID:26467025|PMID:27751653|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:31227335|PMID:31630374|PMID:31920481|PMID:32322428|PMID:32581362|PMID:34546351|PMID:34808209|PMID:8252041 9030682 Atl1 atlastin GTPase 1 gene DOID:607 paraplegia ISO RGD:1352093 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11685207|PMID:14607301|PMID:15517445|PMID:16537571|PMID:16612642|PMID:17321752|PMID:19459885|PMID:19652243|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:20947813|PMID:23079343|PMID:23233086|PMID:24482476|PMID:25637064|PMID:25741868|PMID:25761634|PMID:26467025|PMID:27993330|PMID:28492532|PMID:32581362|PMID:8252041 9030682 Atl1 atlastin GTPase 1 gene DOID:630 genetic disease ISO RGD:1352093 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15184642|PMID:15596607|PMID:15742100|PMID:16401858|PMID:17321752|PMID:17502470|PMID:17576681|PMID:19423133|PMID:19459885|PMID:19768483|PMID:20718791|PMID:20816793|PMID:20862796|PMID:20932283|PMID:21194679|PMID:21336785|PMID:21494555|PMID:22581552|PMID:23079343|PMID:23334294|PMID:23400676|PMID:23483706|PMID:23664116|PMID:24417445|PMID:24451228|PMID:25341883|PMID:25741868|PMID:26208798|PMID:26374131|PMID:26467025|PMID:26633542|PMID:26671083|PMID:27108959|PMID:27217339|PMID:28492532|PMID:29934652|PMID:29980238|PMID:30780198|PMID:31227335|PMID:31594988|PMID:31630374|PMID:31920481|PMID:32322428|PMID:34546351|PMID:34808209|PMID:4684346|PMID:9536098 9030682 Atl1 atlastin GTPase 1 gene DOID:9000704 Lingual Thyroids ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lingual thyroid PMID:32989326 9030682 Atl1 atlastin GTPase 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1352093 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:127 leiomyoma ISO RGD:1348013 D RGD:9068941 20200609 RGD uterine leiomyoma, OMIM:150699; DNA:gene fusion:exon:RTVL-H 3-prime LTRs fused to exon 3 PMID:8954805|REF_RGD_ID:1601568 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:13223 uterine fibroid ISO RGD:1348013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Uterine leiomyoma 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:14566 disease of cellular proliferation ISO RGD:1348013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18413806 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:2394 ovarian cancer ISO RGD:1348013 D RGD:9068941 20200609 RGD PMID:18452175|REF_RGD_ID:5147841 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:3315 lipoma ISO RGD:1348013 D RGD:9068941 20200609 RGD DNA:multiple chromosomal rearrangements PMID:7606786|REF_RGD_ID:1601567 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:630 genetic disease ISO RGD:1348013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:9003996 Birth Weight ISO RGD:1348013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23202124 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1348013 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28830677 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:9007070 Silver-Russell Syndrome 1 ISO RGD:1348013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:28796236 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:9007253 Hamartoma ISO RGD:1348013 D RGD:9068941 20200609 RGD pulmonary chondroid hamartoma; DNA:gene fusion:exon:RTVL-H 3-prime LTRs fused to exon 3 PMID:8954805|REF_RGD_ID:1601568 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:9007453 Silver-Russell Syndrome 5 ISO RGD:1348013 D RGD:7240710 20200701 OMIM 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:9007453 Silver-Russell Syndrome 5 ISO RGD:1348013 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 5 PMID:25741868|PMID:25809938|PMID:28492532|PMID:28796236|PMID:29453418 9030709 Hmga2 high mobility group AT-hook 2 gene DOID:9970 obesity ISO RGD:1552855 D RGD:9068941 20200609 RGD PMID:10742101|REF_RGD_ID:1601569 9030715 Lin7a lin-7 homolog A, crumbs cell polarity complex component gene DOID:305 carcinoma ISO RGD:731642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9030715 Lin7a lin-7 homolog A, crumbs cell polarity complex component gene DOID:630 genetic disease ISO RGD:731642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030715 Lin7a lin-7 homolog A, crumbs cell polarity complex component gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9030715 Lin7a lin-7 homolog A, crumbs cell polarity complex component gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9030715 Lin7a lin-7 homolog A, crumbs cell polarity complex component gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9030752 Coq6 coenzyme Q6, monooxygenase gene DOID:0070243 primary coenzyme Q10 deficiency 6 ISO RGD:1322454 D RGD:7240710 20180130 OMIM 9030752 Coq6 coenzyme Q6, monooxygenase gene DOID:0070243 primary coenzyme Q10 deficiency 6 ISO RGD:1322454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness PMID:21540551|PMID:24140869|PMID:25741868|PMID:28044327|PMID:28117207|PMID:28173653|PMID:28492532|PMID:30232548|PMID:30584653|PMID:30682496|PMID:31937884 9030752 Coq6 coenzyme Q6, monooxygenase gene DOID:0110613 primary ciliary dyskinesia 16 ISO RGD:1322454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 9030752 Coq6 coenzyme Q6, monooxygenase gene DOID:1059 intellectual disability ISO RGD:1322454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9030752 Coq6 coenzyme Q6, monooxygenase gene DOID:630 genetic disease ISO RGD:1322454 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9030768 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1316126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 9030768 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:0111076 progressive familial heart block type IB ISO RGD:1316126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive familial heart block type IB PMID:28492532 9030768 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:10652 Alzheimer's disease ISO RGD:1316126 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex (human) PMID:24023061|REF_RGD_ID:10448959 9030768 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:150 disease of mental health ISO RGD:1316126 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic PMID:22454191|REF_RGD_ID:10448939 9030768 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:630 genetic disease ISO RGD:1316126 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030768 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:9008086 Developmental Disabilities ISO RGD:1316126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9030768 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:9074 systemic lupus erythematosus ISO RGD:1316126 D RGD:9068941 20200609 RGD PMID:22454191|REF_RGD_ID:10448939 9030768 Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 gene DOID:9074 systemic lupus erythematosus ISO RGD:1316127 D RGD:9068941 20200609 RGD PMID:10940910|REF_RGD_ID:10448935 9030809 Synpo synaptopodin gene DOID:0050851 glomerulosclerosis treatment ISO RGD:735344 D RGD:9068941 20201225 RGD PMID:22125642|REF_RGD_ID:40902998 9030809 Synpo synaptopodin gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:735343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9030809 Synpo synaptopodin gene DOID:1184 nephrotic syndrome ISO RGD:735343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:33615071 9030809 Synpo synaptopodin gene DOID:630 genetic disease ISO RGD:735343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9030809 Synpo synaptopodin gene DOID:784 chronic kidney disease treatment ISO RGD:735343 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 9030809 Synpo synaptopodin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9030817 Phf23 PHD finger protein 23 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1601853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9030817 Phf23 PHD finger protein 23 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1601853 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 9030817 Phf23 PHD finger protein 23 gene DOID:1059 intellectual disability ISO RGD:1601853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9030817 Phf23 PHD finger protein 23 gene DOID:12177 common variable immunodeficiency ISO RGD:1601853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9030817 Phf23 PHD finger protein 23 gene DOID:2729 dyskeratosis congenita ISO RGD:1601853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9030817 Phf23 PHD finger protein 23 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1601853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 9030817 Phf23 PHD finger protein 23 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1601853 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 9030817 Phf23 PHD finger protein 23 gene DOID:630 genetic disease ISO RGD:1601853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030839 Susd5 sushi domain containing 5 gene DOID:630 genetic disease ISO RGD:1607061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030847 Scrt2 scratch family transcriptional repressor 2 gene DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 ISO RGD:1348701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532 9030847 Scrt2 scratch family transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1348701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030847 Scrt2 scratch family transcriptional repressor 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9030847 Scrt2 scratch family transcriptional repressor 2 gene DOID:9007616 Polyglucosan Body Myopathy 1 with or without Immunodeficiency ISO RGD:1348701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency PMID:28492532 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:0050629 Aicardi-Goutieres syndrome ISO RGD:1318099 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome PMID:16199547|PMID:17576681|PMID:19525956|PMID:20131292|PMID:20358604|PMID:20653736|PMID:20842748|PMID:21102625|PMID:21204240|PMID:22174685|PMID:22461318|PMID:22691373|PMID:22973040|PMID:24033266|PMID:24035396|PMID:24183309|PMID:24445253|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27604406|PMID:27943079|PMID:28229507|PMID:28492532|PMID:30275001|PMID:32371413|PMID:32384610|PMID:34492268|PMID:36115319|PMID:9536098 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:1883 hepatitis C ISO RGD:1318099 D RGD:9068941 20210730 RGD associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human) PMID:24317272|REF_RGD_ID:149735572 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:1969 cerebral palsy ISO RGD:1318099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:2043 hepatitis B ISO RGD:1318099 D RGD:9068941 20210730 RGD associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human) PMID:24317272|REF_RGD_ID:149735572 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:2234 focal epilepsy ISO RGD:1318099 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:630 genetic disease ISO RGD:1318099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9000761 Deoxyguanosine Kinase Deficiency ISO RGD:1318099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26342080 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9004067 Chilblain Lupus 2 ISO RGD:1318099 D RGD:7240710 20180130 OMIM 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9004067 Chilblain Lupus 2 ISO RGD:1318099 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition PMID:19525956|PMID:20653736|PMID:21204240|PMID:22461318|PMID:22691373|PMID:22973040|PMID:24033266|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27604406|PMID:28229507|PMID:28492532|PMID:30275001|PMID:33857133 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9005881 Chilblain Lupus 1 ISO RGD:1318099 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27566796 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9006262 Cytomegalovirus Infections exacerbates ISO RGD:1318100 D RGD:9068941 20210723 RGD PMID:31548683|REF_RGD_ID:149735526 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1318099 D RGD:7240710 20180130 OMIM 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9007867 Aicardi-Goutieres Syndrome 5 ISO RGD:1318099 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 PMID:16199547|PMID:17576681|PMID:19525956|PMID:20131292|PMID:20358604|PMID:20653736|PMID:20842748|PMID:21102625|PMID:21204240|PMID:21402907|PMID:22174685|PMID:22461318|PMID:22691373|PMID:22973040|PMID:24033266|PMID:24035396|PMID:24183309|PMID:24300241|PMID:24316776|PMID:24989684|PMID:25604658|PMID:25640679|PMID:25741868|PMID:25741895|PMID:26273690|PMID:26431200|PMID:26467025|PMID:26504826|PMID:27604406|PMID:27643693|PMID:27943079|PMID:28229507|PMID:28454995|PMID:28492532|PMID:28851465|PMID:29239743|PMID:29379009|PMID:29758562|PMID:30275001|PMID:30487145|PMID:31130681|PMID:31797533|PMID:32371413|PMID:33683010|PMID:33857133|PMID:34492268|PMID:35590234|PMID:9536098 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:1318099 D RGD:9068941 20210723 RGD human cell line in mouse model PMID:30474474|REF_RGD_ID:149735523 9030869 Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 gene DOID:9538 multiple myeloma ISO RGD:1318099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 9030889 Shprh SNF2 histone linker PHD RING helicase gene DOID:630 genetic disease ISO RGD:1321190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030923 Scrt1 scratch family transcriptional repressor 1 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1314736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9030923 Scrt1 scratch family transcriptional repressor 1 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1314736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9030923 Scrt1 scratch family transcriptional repressor 1 gene DOID:4621 holoprosencephaly ISO RGD:1314736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 9030923 Scrt1 scratch family transcriptional repressor 1 gene DOID:630 genetic disease ISO RGD:1314736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030930 Syt8 synaptotagmin 8 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9030930 Syt8 synaptotagmin 8 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347431 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9030930 Syt8 synaptotagmin 8 gene DOID:0111969 immunodeficiency 39 ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 9030930 Syt8 synaptotagmin 8 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9030930 Syt8 synaptotagmin 8 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9030930 Syt8 synaptotagmin 8 gene DOID:630 genetic disease ISO RGD:1347431 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030930 Syt8 synaptotagmin 8 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1347431 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 9030958 Fam83g family with sequence similarity 83 member G gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1606850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 9030958 Fam83g family with sequence similarity 83 member G gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1606850 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 9030958 Fam83g family with sequence similarity 83 member G gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606850 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9030958 Fam83g family with sequence similarity 83 member G gene DOID:12849 autistic disorder ISO RGD:1606850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9030958 Fam83g family with sequence similarity 83 member G gene DOID:3390 palmoplantar keratosis ISO RGD:12095288 D RGD:9068941 20230824 OMIA Hyperkeratosis, palmoplantar, FAM83G-related PMID:10701186|PMID:12828257|PMID:24832243|PMID:26747202|PMID:29963719|PMID:34796560|PMID:37582787 9030958 Fam83g family with sequence similarity 83 member G gene DOID:630 genetic disease ISO RGD:1606850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030958 Fam83g family with sequence similarity 83 member G gene DOID:9001634 Meckel Syndrome 9 ISO RGD:1606850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 9 PMID:21493627 9030971 Arl14 ADP ribosylation factor like GTPase 14 gene DOID:630 genetic disease ISO RGD:1349632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030976 En2 engrailed homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25290267 9030976 En2 engrailed homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1557783 D RGD:9068941 20220825 MouseDO 9030976 En2 engrailed homeobox 2 gene DOID:0080855 Parkinsonism ISO RGD:1618434 D RGD:9068941 20200609 RGD PMID:17015829|REF_RGD_ID:5687199 9030976 En2 engrailed homeobox 2 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1343015 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:23370340|PMID:24095820|PMID:28492532|PMID:29992659|PMID:31334757 9030976 En2 engrailed homeobox 2 gene DOID:12849 autistic disorder ISO RGD:1343015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 10 PMID:15024396|PMID:16252243|PMID:21681106|PMID:30208311 9030976 En2 engrailed homeobox 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:1343015 D RGD:9068941 20200806 RGD DNA:SNPs:intron:rs1861972, rs1861973(human) PMID:15024396|REF_RGD_ID:1358620 9030976 En2 engrailed homeobox 2 gene DOID:630 genetic disease ISO RGD:1343015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030976 En2 engrailed homeobox 2 gene DOID:9001661 Taste Disorders ISO RGD:1343015 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29953887 9030983 Sncaip synuclein alpha interacting protein gene DOID:0060892 late onset Parkinson's disease ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:12761037|PMID:18366718|PMID:28492532 9030983 Sncaip synuclein alpha interacting protein gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9030983 Sncaip synuclein alpha interacting protein gene DOID:14330 Parkinson's disease ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant | ClinVar Annotator: match by term: Parkinson Disease, Dominant/Recessive PMID:12761037|PMID:18366718|PMID:21344240|PMID:24033266|PMID:28492532 9030983 Sncaip synuclein alpha interacting protein gene DOID:630 genetic disease ISO RGD:1319545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9030983 Sncaip synuclein alpha interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9030983 Sncaip synuclein alpha interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532 9030983 Sncaip synuclein alpha interacting protein gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319545 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9030983 Sncaip synuclein alpha interacting protein gene DOID:9007386 Congenital Lower Urinary Tract Obstruction ISO RGD:1319545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital PMID:31690835 9031037 Scrn3 secernin 3 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1312871 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 9031037 Scrn3 secernin 3 gene DOID:630 genetic disease ISO RGD:1312871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:733190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:10140 dry eye syndrome ISO RGD:733191 D RGD:9068941 20200609 RGD protein:increased expression:corneal epithelium (mouse) PMID:22355243|REF_RGD_ID:6218964 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:11394 adult respiratory distress syndrome ISO RGD:628878 D RGD:9068941 20200609 RGD PMID:12235111|REF_RGD_ID:5688755 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:733190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12868502 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:12140 Chagas disease ISO RGD:733190 D RGD:9068941 20200609 RGD PMID:21801456|REF_RGD_ID:6218957 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:1289 neurodegenerative disease ISO RGD:733191 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus (mouse) PMID:18601936|REF_RGD_ID:6218995 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:14330 Parkinson's disease ISO RGD:628878 D RGD:9068941 20200609 RGD protein:decreased expression:striatum (rat) PMID:22186119|REF_RGD_ID:5686884 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:19350847|REF_RGD_ID:5688779 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:bronchial mucosa (human) PMID:22140545|REF_RGD_ID:5688781 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:628878 D RGD:9068941 20200609 RGD rat gene in mouse model PMID:17473852|REF_RGD_ID:5688754 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:3525 middle cerebral artery infarction ISO RGD:733191 D RGD:9068941 20200609 RGD PMID:21709150|REF_RGD_ID:6218961 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:630 genetic disease ISO RGD:733190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:7148 rheumatoid arthritis ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:peripheral blood lymphocyte (human) PMID:22047640|REF_RGD_ID:5688784 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:8577 ulcerative colitis ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:colon mucosa, epithelium (human) PMID:22297444|REF_RGD_ID:5688753 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:9000998 Brain Injuries ISO RGD:628878 D RGD:9068941 20200609 RGD protein:increased expression:cerebral white matter (rat) PMID:22067617|REF_RGD_ID:5688785 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:9001553 Spinal Cord Compression ISO RGD:733191 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord (mouse) PMID:21787762|REF_RGD_ID:6218959 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:9004649 Heat Stroke ISO RGD:628878 D RGD:9068941 20200609 RGD PMID:22245947|REF_RGD_ID:5686871 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:733190 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:916 liver benign neoplasm ISO RGD:628878 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:22213170|REF_RGD_ID:5686872 9031057 Hspa4 heat shock protein family A (Hsp70) member 4 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733190 D RGD:9068941 20200609 RGD protein:increased expression:serum (human) PMID:22349026|REF_RGD_ID:6218966 9031080 Wdr4 WD repeat domain 4 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1320425 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 9031080 Wdr4 WD repeat domain 4 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1320425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome PMID:25741868|PMID:30079490 9031080 Wdr4 WD repeat domain 4 gene DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations ISO RGD:1320425 D RGD:7240710 20190315 OMIM 9031080 Wdr4 WD repeat domain 4 gene DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations ISO RGD:1320425 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Microcephaly, growth deficiency, seizures, and brain malformations | ClinVar Annotator: match by term: WDR4-related condition PMID:25741868|PMID:26416026|PMID:28492532 9031080 Wdr4 WD repeat domain 4 gene DOID:0110266 cataract 9 multiple types ISO RGD:1320425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 9031080 Wdr4 WD repeat domain 4 gene DOID:630 genetic disease ISO RGD:1320425 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9031080 Wdr4 WD repeat domain 4 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320425 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 9031080 Wdr4 WD repeat domain 4 gene DOID:9000383 Galloway-Mowat Syndrome 6 ISO RGD:1320425 D RGD:7240710 20190315 OMIM 9031080 Wdr4 WD repeat domain 4 gene DOID:9000383 Galloway-Mowat Syndrome 6 ISO RGD:1320425 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 PMID:25741868|PMID:26416026|PMID:28492532|PMID:28617965|PMID:29597095|PMID:30079490 9031080 Wdr4 WD repeat domain 4 gene DOID:9263 homocystinuria ISO RGD:1320425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 9031080 Wdr4 WD repeat domain 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1320425 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9031098 Slc5a2 solute carrier family 5 member 2 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:731434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 9031098 Slc5a2 solute carrier family 5 member 2 gene DOID:10283 prostate cancer ISO RGD:731434 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:25741868 9031098 Slc5a2 solute carrier family 5 member 2 gene DOID:10763 hypertension ISO RGD:620217 D RGD:9068941 20200609 RGD PMID:14506074|REF_RGD_ID:1599050 9031098 Slc5a2 solute carrier family 5 member 2 gene DOID:630 genetic disease ISO RGD:731434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9031098 Slc5a2 solute carrier family 5 member 2 gene DOID:9432 renal glycosuria ISO RGD:731434 D RGD:7240710 20180130 OMIM 9031098 Slc5a2 solute carrier family 5 member 2 gene DOID:9432 renal glycosuria ISO RGD:731434 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial renal glucosuria | ClinVar Annotator: match by term: SLC5A2-related condition PMID:12436245|PMID:14569097|PMID:14614622|PMID:15110322|PMID:18622023|PMID:21165652|PMID:23265383|PMID:25741868|PMID:26376857|PMID:28492532 9031116 Lct lactase gene DOID:0060180 colitis ISO RGD:620823 D RGD:9068941 20200609 RGD protein:decreased expression, increased expression:jejunum PMID:17218984|REF_RGD_ID:1600240 9031116 Lct lactase gene DOID:0060591 WHIM syndrome 1 ISO RGD:1344800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis PMID:28492532 9031116 Lct lactase gene DOID:0111646 congenital lactase deficiency ISO RGD:1344800 D RGD:7240710 20180130 OMIM 9031116 Lct lactase gene DOID:0111646 congenital lactase deficiency ISO RGD:1344800 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital lactase deficiency PMID:16400612|PMID:17576681|PMID:19161632|PMID:22688420|PMID:23103231|PMID:25741868|PMID:25881162|PMID:28492532|PMID:30813293|PMID:35007711|PMID:9536098 9031116 Lct lactase gene DOID:10604 lactose intolerance ISO RGD:1344800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactose intolerance PMID:25741868|PMID:28492532 9031116 Lct lactase gene DOID:11394 adult respiratory distress syndrome ISO RGD:1344800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25070658 9031116 Lct lactase gene DOID:13250 diarrhea ISO RGD:620823 D RGD:9068941 20200609 RGD PMID:15977434|REF_RGD_ID:1600253 9031116 Lct lactase gene DOID:1909 melanoma ISO RGD:1344800 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 9031116 Lct lactase gene DOID:630 genetic disease ISO RGD:1344800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9031116 Lct lactase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620823 D RGD:9068941 20200609 RGD PMID:16021836|REF_RGD_ID:1600251 9031139 C9 complement C9 gene DOID:0060303 complement component 9 deficiency ISO RGD:1320687 D RGD:7240710 20240320 OMIM 9031139 C9 complement C9 gene DOID:0060303 complement component 9 deficiency ISO RGD:1320687 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: C9-related condition | ClinVar Annotator: match by term: Complement component 9 deficiency PMID:11359403|PMID:12596049|PMID:22190594|PMID:2241452|PMID:25741868|PMID:28492532|PMID:28617419|PMID:9144525|PMID:9182899|PMID:9570574|PMID:9634479|PMID:9703418 9031139 C9 complement C9 gene DOID:0080176 meningococcal meningitis ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9570574 9031139 C9 complement C9 gene DOID:0080322 polycystic kidney disease treatment ISO RGD:620319 D RGD:9068941 20200609 RGD PMID:24494798|REF_RGD_ID:8661641 9031139 C9 complement C9 gene DOID:0080322 polycystic kidney disease treatment ISO RGD:732832 D RGD:9068941 20200609 RGD PMID:24494798|REF_RGD_ID:8661641 9031139 C9 complement C9 gene DOID:0110027 age related macular degeneration 15 ISO RGD:1320687 D RGD:7240710 20240320 OMIM 9031139 C9 complement C9 gene DOID:0110027 age related macular degeneration 15 ISO RGD:1320687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 15 PMID:24036952|PMID:28492532 9031139 C9 complement C9 gene DOID:10223 dermatomyositis ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359403 9031139 C9 complement C9 gene DOID:1790 malignant mesothelioma ISO RGD:1320687 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 9031139 C9 complement C9 gene DOID:2559 opiate dependence ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 9031139 C9 complement C9 gene DOID:2559 opiate dependence susceptibility ISO RGD:1320687 D RGD:9068941 20231102 RGD DNA:SNP:: (rs476569) (human) PMID:18438686|REF_RGD_ID:401851917 9031139 C9 complement C9 gene DOID:3134 facial dermatosis ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359403 9031139 C9 complement C9 gene DOID:4448 macular degeneration ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036952 9031139 C9 complement C9 gene DOID:612 primary immunodeficiency disease ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359403|PMID:9570574 9031139 C9 complement C9 gene DOID:630 genetic disease ISO RGD:1320687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9031139 C9 complement C9 gene DOID:684 hepatocellular carcinoma ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 9031139 C9 complement C9 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1320687 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:24494798|REF_RGD_ID:8661641 9031139 C9 complement C9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9031139 C9 complement C9 gene DOID:9006976 Erythema ISO RGD:1320687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11359403 9031152 Gtpbp4 GTP binding protein 4 gene DOID:630 genetic disease ISO RGD:732875 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031152 Gtpbp4 GTP binding protein 4 gene DOID:783 end stage renal disease ISO RGD:620783 D RGD:9068941 20200609 RGD PMID:11316846|REF_RGD_ID:632611 9031211 Prkag1 protein kinase AMP-activated non-catalytic subunit gamma 1 gene DOID:630 genetic disease ISO RGD:734389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031233 Tmem51 transmembrane protein 51 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602878 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9031233 Tmem51 transmembrane protein 51 gene DOID:630 genetic disease ISO RGD:1602878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031253 Sfrp1 secreted frizzled related protein 1 gene DOID:0050589 inflammatory bowel disease ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18716850 9031253 Sfrp1 secreted frizzled related protein 1 gene DOID:114 heart disease ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30377735 9031253 Sfrp1 secreted frizzled related protein 1 gene DOID:127 leiomyoma ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15972578 9031253 Sfrp1 secreted frizzled related protein 1 gene DOID:127 leiomyoma ISO RGD:735754 D RGD:9068941 20200609 RGD Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs PMID:15972578|REF_RGD_ID:2298808 9031253 Sfrp1 secreted frizzled related protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:735754 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:20420713|REF_RGD_ID:4107084 9031253 Sfrp1 secreted frizzled related protein 1 gene DOID:630 genetic disease ISO RGD:735754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031253 Sfrp1 secreted frizzled related protein 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9031253 Sfrp1 secreted frizzled related protein 1 gene DOID:8719 in situ carcinoma ISO RGD:735754 D RGD:9068941 20200609 RGD testicular CIS; mRNA:increased expression:tumor PMID:15123780|REF_RGD_ID:2301712 9031253 Sfrp1 secreted frizzled related protein 1 gene DOID:9000784 Fibrosis ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30377735 9031253 Sfrp1 secreted frizzled related protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17923031|PMID:18716850 9031253 Sfrp1 secreted frizzled related protein 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18283316 9031253 Sfrp1 secreted frizzled related protein 1 gene DOID:9775 diastolic heart failure ISO RGD:735754 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 9031261 Wnt3a Wnt family member 3A gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:1317606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 9031261 Wnt3a Wnt family member 3A gene DOID:1459 hypothyroidism ISO RGD:1308057 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus PMID:19233274|REF_RGD_ID:2303791 9031261 Wnt3a Wnt family member 3A gene DOID:1540 parathyroid carcinoma ISO RGD:1317606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9031261 Wnt3a Wnt family member 3A gene DOID:630 genetic disease ISO RGD:1317606 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9031261 Wnt3a Wnt family member 3A gene DOID:9004009 Reperfusion Injury ISO RGD:1317606 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23875703 9031261 Wnt3a Wnt family member 3A gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1317607 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863 9031261 Wnt3a Wnt family member 3A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9031261 Wnt3a Wnt family member 3A gene DOID:9970 obesity ISO RGD:1317606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28242765 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:0050424 familial adenomatous polyposis ISO RGD:1620890 D RGD:9068941 20231207 RGD protein,mRNA:increased expression:small intestine (mouse) PMID:12615699|REF_RGD_ID:8657097 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:0050700 cardiomyopathy ISO RGD:1620890 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33171190 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21325069 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:heart left ventricle, liver PMID:19323616|REF_RGD_ID:4890033 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: :3435C>T (human) PMID:16107775|REF_RGD_ID:2312343 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:0060041 autism spectrum disorder ISO RGD:730823 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:0060750 familial temporal lobe epilepsy 3 ISO RGD:730823 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: MDR1 POLYMORPHISM PMID:10716719|PMID:11502320|PMID:12686700|PMID:15452305|PMID:15452306|PMID:15805193|PMID:17185560|PMID:22296372 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22112382|REF_RGD_ID:11040992 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:0080600 COVID-19 ISO RGD:730823 D RGD:9068941 20200626 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma severity ISO RGD:730823 D RGD:9068941 20200609 RGD Nasal Type;protein:increased expression:nasal cavity (human) PMID:18756548|REF_RGD_ID:8657087 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:0110893 inflammatory bowel disease 13 ISO RGD:730823 D RGD:7240710 20180130 OMIM 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:0110893 inflammatory bowel disease 13 ISO RGD:730823 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 13 PMID:14610718|PMID:16434479|PMID:25741868|PMID:9820555 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:10652 Alzheimer's disease ISO RGD:1620890 D RGD:9068941 20200609 RGD PMID:25991605|REF_RGD_ID:13801010 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:10939 antisocial personality disorder susceptibility ISO RGD:730823 D RGD:9068941 20231207 RGD DNA:SNP::rs4728702 (human) PMID:25918995|REF_RGD_ID:401901197 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:114 heart disease ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24502637 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP::2677G>T/A(rs2032582)(human) PMID:26922556|REF_RGD_ID:11574565 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:11832 visual epilepsy ISO RGD:619951 D RGD:9068941 20200609 RGD Audiogenic Seizures;mRNA:increased expression:cerebral cortex, midbrain (rat) PMID:12423380|REF_RGD_ID:8657333 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:1227 neutropenia ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16950614|PMID:25007187 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:12365 malaria ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:hypermethylation:promoter PMID:19331170|REF_RGD_ID:39457680 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:12365 malaria susceptibility ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:SNPs,haplotype: :rs2032582, rs1128503 (human) PMID:28422980|REF_RGD_ID:39457679 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:12365 malaria treatment ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:SNP: :c3435C>T(human) PMID:28934955|REF_RGD_ID:39456120 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:12365 malaria treatment ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:haplotype: :1236C>T, 2677G>T,3435C>T (human) PMID:17015054|REF_RGD_ID:39456123 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:13241 Behcet's disease ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) PMID:22705826|REF_RGD_ID:8657073 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:13250 diarrhea ISO RGD:1620890 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:32387182 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:13548 secondary Parkinson disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26457621 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:14330 Parkinson's disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20558393 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:14566 disease of cellular proliferation ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22269388 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:150 disease of mental health ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17015054 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:1682 congenital heart disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23874772 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:1824 status epilepticus ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14706787 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:1826 epilepsy ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19570321|PMID:8001500 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:1826 epilepsy ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP: :3435C>T (human) PMID:12686700|REF_RGD_ID:1358366 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:1826 epilepsy treatment ISO RGD:619951 D RGD:9068941 20200609 RGD PMID:28303499|REF_RGD_ID:13524859 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:730823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:1849 cannabis dependence susceptibility ISO RGD:730823 D RGD:9068941 20231207 RGD DNA:SNP: :3435C>T (rs1045642) (human) PMID:19625010|REF_RGD_ID:401901192 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:2154 nephroblastoma disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:11888090|REF_RGD_ID:2315560 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:2394 ovarian cancer disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:19603017|REF_RGD_ID:2315556 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:2559 opiate dependence ISO RGD:730823 D RGD:9068941 20231012 RGD DNA:SNP: :3435C>T (rs1045642) (human) PMID:24950410|REF_RGD_ID:401827941 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:2559 opiate dependence severity ISO RGD:730823 D RGD:9068941 20240125 RGD DNA:SNP:: (rs9282564) PMID:27061230|REF_RGD_ID:401959589 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:2559 opiate dependence susceptibility ISO RGD:730823 D RGD:9068941 20231207 RGD DNA:SNPs::rs1045642, rs2032582(human) PMID:24086514|REF_RGD_ID:401901242 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:2559 opiate dependence treatment ISO RGD:730823 D RGD:9068941 20231207 RGD DNA:haplotype:: PMID:17178268|REF_RGD_ID:401901190 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:2841 asthma ISO RGD:730823 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:19484671|REF_RGD_ID:4890020 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:2917 cryoglobulinemia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD associated with hepatitis C;DNA:SNP: :3435C>T(human) PMID:28453396|REF_RGD_ID:14700902 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:2957 pulmonary tuberculosis treatment ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNP: :2677G>A (human) PMID:26067842|REF_RGD_ID:11098541 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:2987 familial mediterranean fever no_association ISO RGD:730823 D RGD:9068941 20201002 RGD PMID:23408444|REF_RGD_ID:39456097 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:2987 familial mediterranean fever susceptibility ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNP,haplotype:exon:3435C>T(human) PMID:24773260|REF_RGD_ID:39456095 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:2987 familial mediterranean fever treatment ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNP: :3435C>T(human) PMID:17610314|REF_RGD_ID:39456094 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:19879256|REF_RGD_ID:2315549 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:305 carcinoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21332314 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:15380564|REF_RGD_ID:1358367 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:3602 toxic encephalopathy ISO RGD:12063362 D RGD:9068941 20240118 OMIA Multidrug resistance 1, ABCB1-related PMID:10803640|PMID:11692082|PMID:11939306|PMID:12559367|PMID:12774979|PMID:14627096|PMID:14765742|PMID:15289602|PMID:15305851|PMID:15932411|PMID:15975717|PMID:16327220|PMID:16343287|PMID:16594604|PMID:16984822|PMID:17199425|PMID:17644437|PMID:17803743|PMID:17877579|PMID:18299336|PMID:18557525|PMID:18605373|PMID:18795852|PMID:18922637|PMID:19152588|PMID:19171022|PMID:1917657|PMID:19733104|PMID:20043790|PMID:20391637|PMID:20655253|PMID:21113104|PMID:21488961|PMID:22039792|PMID:22329447|PMID:22362942|PMID:22735986|PMID:2345955|PMID:24302812|PMID:24332606|PMID:2475964|PMID:26153274|PMID:27387721|PMID:27525650|PMID:28061549|PMID:30020547|PMID:30139545|PMID:31113564|PMID:31555677|PMID:31685133|PMID:31711409|PMID:31743433|PMID:35017851|PMID:3592367|PMID:36037240|PMID:36326478|PMID:36786530|PMID:36924353|PMID:37475133|PMID:37582787|PMID:6368862|PMID:7768734|PMID:8647944 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:3602 toxic encephalopathy ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12352921 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:3602 toxic encephalopathy susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: 3435T>C(human) PMID:17938643|REF_RGD_ID:11081146 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:730823 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Non-small cell lung cancer PMID:10716719|PMID:11502320|PMID:12686700|PMID:15452305|PMID:15452306|PMID:15805193|PMID:17185560|PMID:22296372 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNPs: :2677G>T, 3435C>T(human) PMID:17534875|REF_RGD_ID:11080964 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:3948 adrenocortical carcinoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12015757 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:4450 renal cell carcinoma ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: :3435C>T (human) PMID:12089380|REF_RGD_ID:2315559 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:17177989|REF_RGD_ID:2315557 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:4481 allergic rhinitis severity ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:snp:exon:c.1236C>T (human) PMID:24040855|REF_RGD_ID:8657076 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:altered expression:brain, heart, kidney (rat) PMID:24472536|REF_RGD_ID:11041168 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:526 human immunodeficiency virus infectious disease severity ISO RGD:730823 D RGD:9068941 20201002 RGD PMID:27334660|REF_RGD_ID:39456096 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNPs: :4036A>G, 1236C>T (human) PMID:23133441|REF_RGD_ID:39456100 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:557 kidney disease ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24502637 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:730823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:574 peripheral nervous system disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16950614 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:630 genetic disease ISO RGD:730823 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:635 acquired immunodeficiency syndrome treatment ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:SNP: : rs10276036(human) PMID:24517233|REF_RGD_ID:11098698 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:635 acquired immunodeficiency syndrome treatment ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human) PMID:23372834|REF_RGD_ID:39456119 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:619951 D RGD:9068941 20200609 RGD PMID:25625052|REF_RGD_ID:11041138 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17510421 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: : c.1465C > T(human) PMID:23488625|REF_RGD_ID:14700904 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:684 hepatocellular carcinoma susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: :c.3751G>A(human) PMID:24175826|REF_RGD_ID:14700905 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20080907|PMID:22104130 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:769 neuroblastoma ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8761367 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:783 end stage renal disease ISO RGD:619951 D RGD:9068941 20200609 RGD PMID:17135344|REF_RGD_ID:2301067 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:8552 chronic myeloid leukemia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :3435C>T (human) PMID:26250462|REF_RGD_ID:11081180 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNPs: :1236T>C,2677G>A(human) PMID:24581936|REF_RGD_ID:11081178 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:15505619|REF_RGD_ID:1598568 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:863 nervous system disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17015054|PMID:21064136 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:8677 perinatal necrotizing enterocolitis susceptibility ISO RGD:1620890 D RGD:9068941 20200609 RGD PMID:21788941|REF_RGD_ID:8657143 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:8778 Crohn's disease susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:15505619|REF_RGD_ID:1598568 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9000046 Poisoning ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23562926 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9000117 Esophageal Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21332314 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms disease_progression ISO RGD:730823 D RGD:9068941 20200609 RGD PMID:9713510|REF_RGD_ID:2315562 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9000641 Pain ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28193520 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9000740 ST Elevation Myocardial Infarction treatment ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1045642,rs7779562(human) PMID:25217066|REF_RGD_ID:14700903 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9000918 Disease Progression ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20627363 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12015757 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9001189 Drug Overdose susceptibility ISO RGD:730823 D RGD:9068941 20231202 RGD DNA:SNPs:exons :3435C>T (rs1045642), 1236C>T (rs1128503)(human) PMID:23515680|REF_RGD_ID:401901187 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9001371 Eosinophilia ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus (human) PMID:24717943|REF_RGD_ID:8657092 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9001472 Nasal Polyps ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Chronic Rhinosinusitis;protein:increased expression:nasal sinus (human) PMID:22223515|REF_RGD_ID:8657074 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16182555 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9001827 Critical Illness treatment ISO RGD:730823 D RGD:9068941 20201002 RGD DNA:SNP:exon:3435C>T(human) PMID:29979333|REF_RGD_ID:39456099 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:16225763|REF_RGD_ID:2306659 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9002265 Kidney Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:altered expression:liver PMID:19152228|REF_RGD_ID:2315573 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:decreased expression:intestinal mucosa (rat) PMID:17827786|REF_RGD_ID:11040994 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17827786 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:730823 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:16467099 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9002953 Escherichia Coli Infections ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24498193 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:730823 D RGD:9068941 20231207 RGD associated with Alcohol-Related Disorders;DNA:SNP:rs13233308 (human) PMID:28422712|REF_RGD_ID:401901196 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9003971 Postoperative Pain ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20627697 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22749977 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP::2677G>T/A(rs2032582)(human) PMID:26922556|REF_RGD_ID:11574565 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP: :3435C>T(human) PMID:29155127|REF_RGD_ID:14700907 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD Breast Neoplasms;DNA:SNP: :3435 C>T(human) PMID:22271208|REF_RGD_ID:11081001 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human) PMID:17534875|REF_RGD_ID:11080964 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9004486 Drug-induced Neutropenia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human) PMID:25007187|REF_RGD_ID:11080979 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9004751 Nausea ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21840870 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1620890 D RGD:9068941 20200609 RGD PMID:19654309|REF_RGD_ID:2315553 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9005372 Inflammation ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:decreased expression:jejunum, ileum, intestinal mucosa (rat) PMID:24515798|REF_RGD_ID:11041153 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:17664251|REF_RGD_ID:2312730 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619951 D RGD:9068941 20200609 RGD protein: decreased expression PMID:17074306|REF_RGD_ID:1598559 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus disease_progression ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum, intestinal mucosa (rat) PMID:26460146|REF_RGD_ID:11041112 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:619951 D RGD:9068941 20200609 RGD PMID:21685928|REF_RGD_ID:8657121 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9005930 Endotoxemia ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:26977098|REF_RGD_ID:11041000 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9005950 Orthostatic Hypotension ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12082591 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9006532 Hematologic Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1620890 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:24502637|PMID:28193520|PMID:32387182 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18381794|PMID:20563569|PMID:21064136|PMID:25007187 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1620890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26134275 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20623750 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury severity ISO RGD:1620890 D RGD:9068941 20200609 RGD PMID:26134275|REF_RGD_ID:11041130 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:SNP::2677G>T/A(rs2032582)(human) PMID:27296832|REF_RGD_ID:14700895 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9007432 Latent Tuberculosis ISO RGD:730823 D RGD:9068941 20210212 RGD mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) PMID:29602771|REF_RGD_ID:41404732 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9007659 Anthracycline-induced Cardiotoxicity susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.G671V (human) PMID:16330681|REF_RGD_ID:11041175 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9007973 Genetic Translocation ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21325069 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9008114 Helicobacter Infections no_association ISO RGD:730823 D RGD:9068941 20201008 RGD DNA:haplotype: :3435T> C,2677T>G ,1236C>T (human) PMID:27611887|REF_RGD_ID:39456122 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9008114 Helicobacter Infections sexual_dimorphism ISO RGD:730823 D RGD:9068941 20201008 RGD associated with peptic ulcer disease;DNA:SNP: :3435C>T(human) PMID:22001987|REF_RGD_ID:39456093 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9008385 Vomiting ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21840870 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766|PMID:23977225 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22311042 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism: :3435C>T (human) PMID:19752884|REF_RGD_ID:2315550 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:polymorphism:exon (human) PMID:19470683|REF_RGD_ID:2312331 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9505 cannabis abuse ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19625010 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9588 encephalitis ISO RGD:619951 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, liver (rat) PMID:12746221|REF_RGD_ID:8657083 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:730823 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22674224 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730823 D RGD:9068941 20200609 RGD DNA:snps, haplotype:multiple (human) PMID:22674224|REF_RGD_ID:8657089 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9974 drug dependence treatment ISO RGD:730823 D RGD:9068941 20231207 RGD DNA:polymorphisms: :2677G>T, ���1236C>T (human) PMID:24455721|REF_RGD_ID:401901193 9031269 Abcb1 ATP binding cassette subfamily B member 1 gene DOID:9976 heroin dependence treatment ISO RGD:730823 D RGD:9068941 20240302 RGD associated with methadone treatment;DNA:SNP:intron (rs1128503) (human) PMID:29173032|REF_RGD_ID:401976557 9031308 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:0060041 autism spectrum disorder ISO RGD:736232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:22346768|PMID:25741868|PMID:27569545|PMID:30763456 9031308 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:1059 intellectual disability ISO RGD:736232 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9031308 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:12849 autistic disorder ISO RGD:736232 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 17 PMID:20473310|PMID:21994763|PMID:22346768|PMID:25560758|PMID:25741868|PMID:26467025|PMID:27001614|PMID:28492532|PMID:29991577|PMID:30072871|PMID:30911184 9031308 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:12849 autistic disorder susceptibility ISO RGD:736232 D RGD:7240710 20190502 OMIM 9031308 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:3312 bipolar disorder ISO RGD:736232 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 9031308 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:630 genetic disease ISO RGD:736232 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9031308 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736232 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:20473310|PMID:25741868|PMID:30911184 9031308 Shank2 SH3 and multiple ankyrin repeat domains 2 gene DOID:9008086 Developmental Disabilities ISO RGD:736232 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9031348 Myg1 MYG1 exonuclease gene DOID:0050602 triple-A syndrome ISO RGD:1350875 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Achalasia alacrima syndrome 9031359 Dennd3 DENN domain containing 3 gene DOID:10487 Hirschsprung's disease ISO RGD:1605083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 9031359 Dennd3 DENN domain containing 3 gene DOID:630 genetic disease ISO RGD:1605083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031396 Napsa napsin A aspartic peptidase gene DOID:2661 myoepithelioma ISO RGD:1347374 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9031396 Napsa napsin A aspartic peptidase gene DOID:630 genetic disease ISO RGD:1347374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031418 Egr2 early growth response 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1352442 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 1 PMID:10369870|PMID:10371530|PMID:10502832|PMID:10762521|PMID:11239949|PMID:11523566|PMID:11545686|PMID:11734543|PMID:12471219|PMID:12525712|PMID:12609493|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20513111|PMID:22546699|PMID:22734907|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26204789|PMID:26467025|PMID:27013732|PMID:27159987|PMID:27164712|PMID:27422849|PMID:27549087|PMID:28492532|PMID:30481651|PMID:30843326|PMID:30889162|PMID:31673878|PMID:31919945|PMID:32376792|PMID:32528171|PMID:32896048|PMID:34169998|PMID:9537424 9031418 Egr2 early growth response 2 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1352442 D RGD:7240710 20180425 OMIM 9031418 Egr2 early growth response 2 gene DOID:0050540 Charcot-Marie-Tooth disease type 3 ISO RGD:1352442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dejerine-Sottas disease | ClinVar Annotator: match by term: Dejerine-sottas neuropathy, autosomal dominant PMID:10369870|PMID:10371530|PMID:11523566|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:22546699|PMID:25741868|PMID:27013732|PMID:27159987|PMID:28492532|PMID:30843326 9031418 Egr2 early growth response 2 gene DOID:0110150 Charcot-Marie-Tooth disease type 1D ISO RGD:1352442 D RGD:7240710 20180130 OMIM 9031418 Egr2 early growth response 2 gene DOID:0110150 Charcot-Marie-Tooth disease type 1D ISO RGD:1352442 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1d | ClinVar Annotator: match by term: HMSN 1D PMID:10369870|PMID:10371530|PMID:10502832|PMID:10762521|PMID:11239949|PMID:11523566|PMID:11545686|PMID:11734543|PMID:12471219|PMID:12525712|PMID:12609493|PMID:12736090|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20301641|PMID:20513111|PMID:21149811|PMID:22271166|PMID:22546699|PMID:22734907|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26204789|PMID:26467025|PMID:27013732|PMID:27159987|PMID:27164712|PMID:27422849|PMID:28492532|PMID:30481651|PMID:30843326|PMID:31673878|PMID:31919945|PMID:32337334|PMID:32376792|PMID:32896048|PMID:9537424 9031418 Egr2 early growth response 2 gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:1352442 D RGD:7240710 20180130 OMIM 9031418 Egr2 early growth response 2 gene DOID:0110195 Charcot-Marie-Tooth disease type 4E ISO RGD:1352442 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E PMID:10369870|PMID:12736090|PMID:17717711|PMID:20301384|PMID:20301641|PMID:25741868|PMID:28492532|PMID:9537424 9031418 Egr2 early growth response 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1352442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10369870|PMID:10371530|PMID:10502832|PMID:10762521|PMID:11239949|PMID:11523566|PMID:11545686|PMID:11734543|PMID:12471219|PMID:12609493|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20513111|PMID:21149811|PMID:22271166|PMID:22546699|PMID:22734907|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26467025|PMID:27013732|PMID:27159987|PMID:27164712|PMID:27422849|PMID:28492532|PMID:30843326|PMID:31673878|PMID:31919945|PMID:32376792|PMID:32896048|PMID:34169998 9031418 Egr2 early growth response 2 gene DOID:1206 Rett syndrome ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19000991 9031418 Egr2 early growth response 2 gene DOID:12849 autistic disorder ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19000991 9031418 Egr2 early growth response 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9031418 Egr2 early growth response 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1352442 D RGD:9068941 20200609 RGD Dejerine-Sottas neuropathy, OMIM:145900;DNA:point mutation:exon:R359W PMID:12970165|REF_RGD_ID:1601014 9031418 Egr2 early growth response 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1352442 D RGD:9068941 20200609 RGD congenital hypomyelinating neuropathy, OMIM:605253;DNA:point mutation:exon:I268N PMID:10369870|REF_RGD_ID:1601012 9031418 Egr2 early growth response 2 gene DOID:308 early myoclonic encephalopathy ISO RGD:1352442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:28492532 9031418 Egr2 early growth response 2 gene DOID:3369 Ewing sarcoma ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26214589 9031418 Egr2 early growth response 2 gene DOID:3525 middle cerebral artery infarction ISO RGD:621608 D RGD:9068941 20200609 RGD PMID:22645329|REF_RGD_ID:10395314 9031418 Egr2 early growth response 2 gene DOID:607 paraplegia ISO RGD:1352442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 9031418 Egr2 early growth response 2 gene DOID:630 genetic disease ISO RGD:1352442 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10762521|PMID:12471219|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30889162|PMID:32376792|PMID:34323022 9031418 Egr2 early growth response 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9031418 Egr2 early growth response 2 gene DOID:9007102 Myocardial Ischemia ISO RGD:1352442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9031418 Egr2 early growth response 2 gene DOID:9008331 Tendon Injuries treatment ISO RGD:621608 D RGD:9068941 20200609 RGD PMID:23519232|REF_RGD_ID:10395300 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1623819 D RGD:9068941 20220825 MouseDO OMIM:613282 | OMIM:613387 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:0080690 RASopathy ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:0111123 nephronophthisis 15 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:1351240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:1059 intellectual disability ISO RGD:1351240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:630 genetic disease ISO RGD:1351240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1351240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1351240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 9031441 Sidt2 SID1 transmembrane family member 2 gene DOID:9007661 Dwarfism ISO RGD:1351240 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9031473 Nt5c3b 5'-nucleotidase, cytosolic IIIB gene DOID:630 genetic disease ISO RGD:1602442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031484 Ltf lactotransferrin gene DOID:0050589 inflammatory bowel disease ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:9791051|REF_RGD_ID:7243943 9031484 Ltf lactotransferrin gene DOID:10763 hypertension ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24587916 9031484 Ltf lactotransferrin gene DOID:11476 osteoporosis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16648989|PMID:16936800 9031484 Ltf lactotransferrin gene DOID:13250 diarrhea ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 9031484 Ltf lactotransferrin gene DOID:13689 prostate calculus ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:19202053|REF_RGD_ID:7243107 9031484 Ltf lactotransferrin gene DOID:14262 oral candidiasis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 9031484 Ltf lactotransferrin gene DOID:14566 disease of cellular proliferation ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 9031484 Ltf lactotransferrin gene DOID:1508 candidiasis ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:17922408|REF_RGD_ID:7243948 9031484 Ltf lactotransferrin gene DOID:2272 vulvovaginal candidiasis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 9031484 Ltf lactotransferrin gene DOID:289 endometriosis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 9031484 Ltf lactotransferrin gene DOID:381 arthropathy ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 9031484 Ltf lactotransferrin gene DOID:3908 lung non-small cell carcinoma ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:21532506|REF_RGD_ID:7243860 9031484 Ltf lactotransferrin gene DOID:4450 renal cell carcinoma ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:23201854|REF_RGD_ID:7243106 9031484 Ltf lactotransferrin gene DOID:630 genetic disease ISO RGD:1313477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031484 Ltf lactotransferrin gene DOID:65 connective tissue disease ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:8296641|REF_RGD_ID:7243945 9031484 Ltf lactotransferrin gene DOID:8577 ulcerative colitis ISO RGD:1313477 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16640825|PMID:35999755 9031484 Ltf lactotransferrin gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 9031484 Ltf lactotransferrin gene DOID:9000310 Lung Injury ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:16905637|REF_RGD_ID:7243109 9031484 Ltf lactotransferrin gene DOID:9001600 Wounds and Injuries ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 9031484 Ltf lactotransferrin gene DOID:9001981 Weight Loss ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:24587916 9031484 Ltf lactotransferrin gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1313477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 9031484 Ltf lactotransferrin gene DOID:9002928 Colonic Neoplasms ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12079509 9031484 Ltf lactotransferrin gene DOID:9003507 Premature Birth ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16640825 9031484 Ltf lactotransferrin gene DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:23201854|REF_RGD_ID:7243106 9031484 Ltf lactotransferrin gene DOID:9004484 Sepsis ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:23425819|REF_RGD_ID:7243861 9031484 Ltf lactotransferrin gene DOID:9004786 Carbon Tetrachloride Poisoning ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16141546 9031484 Ltf lactotransferrin gene DOID:9005372 Inflammation ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16141546 9031484 Ltf lactotransferrin gene DOID:9006024 Hypotension ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563657 9031484 Ltf lactotransferrin gene DOID:9007188 Liver Neoplasms ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12079509 9031484 Ltf lactotransferrin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16141546 9031484 Ltf lactotransferrin gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1313477 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 9031484 Ltf lactotransferrin gene DOID:9008821 Otitis Media with Effusion treatment ISS RGD:1313477 D RGD:11554025|PMID:21079169 20161025 RGD 9031484 Ltf lactotransferrin gene DOID:9008885 Staphylococcal Infections ISO RGD:1313477 D RGD:9068941 20200609 RGD PMID:10030017|REF_RGD_ID:7243953 9031484 Ltf lactotransferrin gene DOID:9008975 Gastrointestinal Hemorrhage ISO RGD:1313477 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15651117 9031508 Dydc1 DPY30 domain containing 1 gene DOID:630 genetic disease ISO RGD:1352824 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:737374 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0110994 Joubert syndrome 25 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0111934 immunodeficiency 38 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:737374 D RGD:7240710 20180130 OMIM 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0111935 immunodeficiency 16 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:16199547|PMID:17576681|PMID:19492091|PMID:21031596|PMID:23897980|PMID:24033266|PMID:25741868|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9536098|PMID:9683594 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures PMID:28492532 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:12930 dilated cardiomyopathy ISO RGD:737374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:737374 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:417 autoimmune disease ISO RGD:737374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9766631 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:630 genetic disease ISO RGD:737374 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:820 myocarditis ISO RGD:737374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:737374 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:737374 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9031527 Tnfrsf4 TNF receptor superfamily member 4 gene DOID:934 viral infectious disease ISO RGD:737374 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12031769 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1351979 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050476 Barth syndrome ISO RGD:1351979 D RGD:7240710 20180130 OMIM 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050476 Barth syndrome ISO RGD:1351979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II PMID:10480214|PMID:10484795|PMID:11238270|PMID:11735032|PMID:11748843|PMID:11896212|PMID:11968085|PMID:12032589|PMID:12468278|PMID:12529714|PMID:12930833|PMID:14654353|PMID:14662265|PMID:15098233|PMID:15793838|PMID:16199547|PMID:16427346|PMID:16548007|PMID:16601897|PMID:16684786|PMID:16873891|PMID:16880272|PMID:16906470|PMID:1719174|PMID:17241629|PMID:17394203|PMID:17576681|PMID:17846786|PMID:19037987|PMID:19396829|PMID:19438153|PMID:19619503|PMID:19648820|PMID:19700766|PMID:19846429|PMID:1998334|PMID:20530761|PMID:20730588|PMID:20812380|PMID:21300850|PMID:21659346|PMID:21932011|PMID:22281021|PMID:22382802|PMID:22410210|PMID:23031367|PMID:23206890|PMID:23345479|PMID:23361305|PMID:23409742|PMID:23606313|PMID:23656970|PMID:23660394|PMID:24033266|PMID:24342716|PMID:24365856|PMID:24813252|PMID:24887148|PMID:24962355|PMID:25112388|PMID:25652404|PMID:25741868|PMID:25941633|PMID:26350513|PMID:26471271|PMID:26724946|PMID:26845103|PMID:26895103|PMID:28123175|PMID:28183324|PMID:28492532|PMID:28855170|PMID:29077208|PMID:29089047|PMID:29247119|PMID:29334594|PMID:29476731|PMID:30122738|PMID:30471092|PMID:30831263|PMID:31333075|PMID:31559736|PMID:31568572|PMID:31647997|PMID:31737537|PMID:32619718|PMID:33500567|PMID:34906502|PMID:35104856|PMID:4685904|PMID:6142097|PMID:7616547|PMID:8042670|PMID:8434619|PMID:8630491|PMID:9332651|PMID:9345058|PMID:9345098|PMID:9382096|PMID:9382097|PMID:9384614|PMID:9536098|PMID:972179 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050700 cardiomyopathy ISO RGD:1351979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:11238270|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:972179 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0060480 left ventricular noncompaction ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0081164 dilated cardiomyopathy 3B ISO RGD:1351979 D RGD:8554872 20220830 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:22578097|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:0112003 immunodeficiency 33 ISO RGD:1351979 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:10588 adrenoleukodystrophy ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12849 autistic disorder ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12929 endocardial fibroelastosis ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endocardial fibroelastosis PMID:19438153|PMID:19700766|PMID:20530761|PMID:24033266|PMID:24342716|PMID:25741868|PMID:25941633|PMID:26350513|PMID:28492532 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:12930 dilated cardiomyopathy ISO RGD:1351979 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:11896212|PMID:12468278|PMID:19438153|PMID:19700766|PMID:20530761|PMID:24033266|PMID:24342716|PMID:25741868|PMID:25941633|PMID:26350513|PMID:28492532|PMID:33500567|PMID:4685904|PMID:9382096 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:13628 favism ISO RGD:1351979 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:25741868|PMID:28492532 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:2729 dyskeratosis congenita ISO RGD:1351979 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:607 paraplegia ISO RGD:1351979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1351979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:19438153|PMID:19700766|PMID:20530761|PMID:24033266|PMID:24342716|PMID:25741868|PMID:25941633|PMID:26350513|PMID:28492532|PMID:31333075|PMID:31568572|PMID:34540771 9031553 Tafazzin tafazzin, phospholipid-lysophospholipid transacylase gene DOID:9002720 Splenomegaly ISO RGD:1351979 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 9031590 Tnk2 tyrosine kinase non receptor 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346409 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868 9031590 Tnk2 tyrosine kinase non receptor 2 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1346409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 9031590 Tnk2 tyrosine kinase non receptor 2 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1346409 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 9031590 Tnk2 tyrosine kinase non receptor 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346409 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868 9031590 Tnk2 tyrosine kinase non receptor 2 gene DOID:14330 Parkinson's disease ISO RGD:1346409 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Parkinson disease PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532 9031590 Tnk2 tyrosine kinase non receptor 2 gene DOID:1826 epilepsy ISO RGD:1346409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532 9031590 Tnk2 tyrosine kinase non receptor 2 gene DOID:630 genetic disease ISO RGD:1346409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9031590 Tnk2 tyrosine kinase non receptor 2 gene DOID:9001793 Generalized Epilepsy ISO RGD:1346409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy 9031590 Tnk2 tyrosine kinase non receptor 2 gene DOID:9004367 Autosomal Recessive Infantile Epilepsy ISO RGD:1346409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy PMID:23686771|PMID:25741868|PMID:26595808|PMID:28492532 9031590 Tnk2 tyrosine kinase non receptor 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1346409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 9031659 Spata7 spermatogenesis associated 7 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1345087 D RGD:7240710 20180130 OMIM 9031659 Spata7 spermatogenesis associated 7 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1345087 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onset PMID:16199547|PMID:17576681|PMID:19268277|PMID:20104588|PMID:20301475|PMID:21310915|PMID:21602930|PMID:22136677|PMID:22334370|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24938718|PMID:25133751|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26854980|PMID:27208204|PMID:28481129|PMID:28492532|PMID:28714225|PMID:29186038|PMID:29411205|PMID:30054919|PMID:31908400|PMID:32865313|PMID:36909829|PMID:9536098 9031659 Spata7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:26355662|PMID:28481129|PMID:28492532|PMID:9536098 9031659 Spata7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:25741868|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28481129|PMID:28492532|PMID:30054919|PMID:31908400 9031659 Spata7 spermatogenesis associated 7 gene DOID:10584 retinitis pigmentosa ISO RGD:1345087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:19268277|PMID:22334370|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28481129|PMID:28492532|PMID:30054919|PMID:31908400|PMID:9536098 9031659 Spata7 spermatogenesis associated 7 gene DOID:10587 Krabbe disease ISO RGD:1345087 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:25741868 9031659 Spata7 spermatogenesis associated 7 gene DOID:14791 Leber congenital amaurosis ISO RGD:1345087 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis PMID:19268277|PMID:20104588|PMID:21310915|PMID:22334370|PMID:23847139|PMID:24265693|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26854980|PMID:28492532|PMID:29411205|PMID:31908400|PMID:32865313|PMID:36909829 9031659 Spata7 spermatogenesis associated 7 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1345087 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9031659 Spata7 spermatogenesis associated 7 gene DOID:630 genetic disease ISO RGD:1345087 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9031659 Spata7 spermatogenesis associated 7 gene DOID:8501 fundus dystrophy ISO RGD:1345087 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19268277|PMID:21310915|PMID:22136677|PMID:22334370|PMID:23847139|PMID:25133751|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26261414|PMID:27208204|PMID:28492532|PMID:29411205 9031681 Slc7a7 solute carrier family 7 member 7 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733448 D RGD:7240710 20180130 OMIM 9031681 Slc7a7 solute carrier family 7 member 7 gene DOID:0060439 lysinuric protein intolerance ISO RGD:733448 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance | ClinVar Annotator: match by term: SLC7A7-related condition PMID:10080182|PMID:10080183|PMID:10631139|PMID:10655553|PMID:10737982|PMID:10980538|PMID:11377971|PMID:11544277|PMID:11883940|PMID:12402335|PMID:15756301|PMID:15776427|PMID:16199547|PMID:17530437|PMID:17576681|PMID:17666782|PMID:17764084|PMID:18716612|PMID:18846669|PMID:20301535|PMID:21110863|PMID:21716135|PMID:22325938|PMID:23430825|PMID:23542076|PMID:23772603|PMID:23940088|PMID:25326635|PMID:25419514|PMID:25614305|PMID:25640679|PMID:25741868|PMID:26740551|PMID:26865117|PMID:28028301|PMID:28492532|PMID:28976792|PMID:29058386|PMID:29795570|PMID:30054302|PMID:30832686|PMID:31014432|PMID:31211457|PMID:31427715|PMID:32249831|PMID:32542393|PMID:32888943|PMID:34095032|PMID:34589056|PMID:9536098|PMID:9829974 9031681 Slc7a7 solute carrier family 7 member 7 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733448 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10631139|PMID:15776427|PMID:17764084|PMID:20301535|PMID:25741868|PMID:28492532|PMID:29795570|PMID:34095032 9031681 Slc7a7 solute carrier family 7 member 7 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:733448 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10631139|PMID:15776427|PMID:17530437|PMID:17764084|PMID:20301535|PMID:25741868|PMID:26740551|PMID:28492532|PMID:28976792|PMID:29795570|PMID:34095032 9031681 Slc7a7 solute carrier family 7 member 7 gene DOID:630 genetic disease ISO RGD:733448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9031681 Slc7a7 solute carrier family 7 member 7 gene DOID:9000265 Specific Granule Deficiency ISO RGD:733448 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 9031681 Slc7a7 solute carrier family 7 member 7 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:733448 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9031681 Slc7a7 solute carrier family 7 member 7 gene DOID:9252 amino acid metabolic disorder ISO RGD:733448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11544277 9031717 Sun3 Sad1 and UNC84 domain containing 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1352324 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9031717 Sun3 Sad1 and UNC84 domain containing 3 gene DOID:630 genetic disease ISO RGD:1352324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031739 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:2298825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:20137778|PMID:30303587 9031739 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:0110483 autosomal recessive nonsyndromic deafness 25 ISO RGD:2298825 D RGD:7240710 20180130 OMIM 9031739 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:0110483 autosomal recessive nonsyndromic deafness 25 ISO RGD:2298825 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 25 PMID:16380907|PMID:20137774|PMID:20137778|PMID:24033266|PMID:25741868|PMID:25802247|PMID:26226137|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32279305|PMID:34753855|PMID:35802133|PMID:36633841|PMID:36672810 9031739 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:5419 schizophrenia ISO RGD:2298825 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9031739 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:630 genetic disease ISO RGD:2298825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9031739 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:9004538 Hearing Loss ISO RGD:2298825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:24033266|PMID:25802247|PMID:28492532|PMID:30311386 9031739 Grxcr1 glutaredoxin and cysteine rich domain containing 1 gene DOID:9008681 Deafness ISO RGD:2298825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 9031747 Chaf1a chromatin assembly factor 1 subunit A gene DOID:13938 amenorrhea ISO RGD:1353205 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9031747 Chaf1a chromatin assembly factor 1 subunit A gene DOID:219 colon cancer ISO RGD:1353205 D RGD:9068941 20200609 RGD PMID:24845563|REF_RGD_ID:9587457 9031747 Chaf1a chromatin assembly factor 1 subunit A gene DOID:219 colon cancer disease_progression ISO RGD:1353205 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:colonic mucosa: PMID:24845563|REF_RGD_ID:9587457 9031747 Chaf1a chromatin assembly factor 1 subunit A gene DOID:3070 high grade glioma susceptibility ISO RGD:1353205 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs243356(human) PMID:18048407|REF_RGD_ID:9587459 9031747 Chaf1a chromatin assembly factor 1 subunit A gene DOID:403 mouth disease ISO RGD:1353205 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 9031747 Chaf1a chromatin assembly factor 1 subunit A gene DOID:630 genetic disease ISO RGD:1353205 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031747 Chaf1a chromatin assembly factor 1 subunit A gene DOID:769 neuroblastoma ISO RGD:1353205 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:24335960|REF_RGD_ID:9587458 9031747 Chaf1a chromatin assembly factor 1 subunit A gene DOID:769 neuroblastoma disease_progression ISO RGD:1353205 D RGD:9068941 20200609 RGD mRNA:increased expression: : PMID:24335960|REF_RGD_ID:9587458 9031747 Chaf1a chromatin assembly factor 1 subunit A gene DOID:9074 systemic lupus erythematosus ISO RGD:1353205 D RGD:9068941 20200609 RGD PMID:24836587|REF_RGD_ID:9587742 9031771 Zbbx zinc finger B-box domain containing gene DOID:630 genetic disease ISO RGD:1602864 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031797 Pdrg1 p53 and DNA damage regulated 1 gene DOID:630 genetic disease ISO RGD:1349373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031797 Pdrg1 p53 and DNA damage regulated 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1349373 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 9031823 Ccdc91 coiled-coil domain containing 91 gene DOID:12849 autistic disorder ISO RGD:1605359 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9031823 Ccdc91 coiled-coil domain containing 91 gene DOID:303 substance-related disorder ISO RGD:1605359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9031823 Ccdc91 coiled-coil domain containing 91 gene DOID:630 genetic disease ISO RGD:1605359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031883 Fmnl2 formin like 2 gene DOID:630 genetic disease ISO RGD:1315771 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9031883 Fmnl2 formin like 2 gene DOID:8778 Crohn's disease ISO RGD:1315771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Crohn disease 9031883 Fmnl2 formin like 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9031914 LOC102020379 cytochrome c oxidase subunit 4 isoform 1, mitochondrial gene DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 ISO RGD:68539 D RGD:7240710 20201111 OMIM 9031914 LOC102020379 cytochrome c oxidase subunit 4 isoform 1, mitochondrial gene DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 ISO RGD:68539 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 PMID:25741868|PMID:28492532|PMID:31290619 9031914 LOC102020379 cytochrome c oxidase subunit 4 isoform 1, mitochondrial gene DOID:11801 protein-energy malnutrition ISO RGD:68374 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:18725894|REF_RGD_ID:2301376 9031914 LOC102020379 cytochrome c oxidase subunit 4 isoform 1, mitochondrial gene DOID:13042 persistent fetal circulation syndrome ISO RGD:68539 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 9031914 LOC102020379 cytochrome c oxidase subunit 4 isoform 1, mitochondrial gene DOID:630 genetic disease ISO RGD:68539 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031928 P2rx6 purinergic receptor P2X 6 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:736820 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 9031928 P2rx6 purinergic receptor P2X 6 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:736820 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 9031928 P2rx6 purinergic receptor P2X 6 gene DOID:1059 intellectual disability ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9031928 P2rx6 purinergic receptor P2X 6 gene DOID:11198 DiGeorge syndrome ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome PMID:31690835|PMID:32581362 9031928 P2rx6 purinergic receptor P2X 6 gene DOID:11372 megacolon ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9031928 P2rx6 purinergic receptor P2X 6 gene DOID:12583 velocardiofacial syndrome ISO RGD:736820 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 9031928 P2rx6 purinergic receptor P2X 6 gene DOID:12849 autistic disorder ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9031928 P2rx6 purinergic receptor P2X 6 gene DOID:1826 epilepsy ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9031928 P2rx6 purinergic receptor P2X 6 gene DOID:5419 schizophrenia ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9031928 P2rx6 purinergic receptor P2X 6 gene DOID:612 primary immunodeficiency disease ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868 9031928 P2rx6 purinergic receptor P2X 6 gene DOID:630 genetic disease ISO RGD:736820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031928 P2rx6 purinergic receptor P2X 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9031945 Galt galactose-1-phosphate uridylyltransferase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1315126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9031945 Galt galactose-1-phosphate uridylyltransferase gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1315126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 9031945 Galt galactose-1-phosphate uridylyltransferase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1315126 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9031945 Galt galactose-1-phosphate uridylyltransferase gene DOID:0080942 anauxetic dysplasia ISO RGD:1315126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 9031945 Galt galactose-1-phosphate uridylyltransferase gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1315126 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 9031945 Galt galactose-1-phosphate uridylyltransferase gene DOID:0111459 classic galactosemia ISO RGD:1315126 D RGD:7240710 20191106 OMIM 9031945 Galt galactose-1-phosphate uridylyltransferase gene DOID:0111459 classic galactosemia ISO RGD:1315126 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: GALACTOSEMIA I | ClinVar Annotator: match by term: GALT-related condition PMID:10037750|PMID:10220154|PMID:10384398|PMID:10408771|PMID:10424825|PMID:10439960|PMID:10649501|PMID:10960497|PMID:11152465|PMID:11261429|PMID:11286503|PMID:11397328|PMID:11479743|PMID:11596650|PMID:12595586|PMID:14728988|PMID:15172000|PMID:15841485|PMID:16838075|PMID:17041746|PMID:17576681|PMID:1766867|PMID:18956253|PMID:1897530|PMID:19224951|PMID:19581158|PMID:20008339|PMID:2011574|PMID:20151200|PMID:20213376|PMID:20301691|PMID:21188552|PMID:21228398|PMID:21501963|PMID:22743281|PMID:22944367|PMID:22963887|PMID:23924834|PMID:24033266|PMID:24718839|PMID:25087612|PMID:25592817|PMID:25614870|PMID:25681079|PMID:25741868|PMID:27005423|PMID:27308838|PMID:28492532|PMID:29653003|PMID:31029175|PMID:31395954|PMID:4759900|PMID:7550229|PMID:7887416|PMID:7887417|PMID:8040766|PMID:8198125|PMID:8421669|PMID:8892021|PMID:8943248|PMID:9012409|PMID:9222760|PMID:9450900|PMID:9536098|PMID:9772178 9031945 Galt galactose-1-phosphate uridylyltransferase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1315126 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9031945 Galt galactose-1-phosphate uridylyltransferase gene DOID:5426 primary ovarian insufficiency ISO RGD:1315126 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:17876724|PMID:22461411|PMID:25741868|PMID:28492532 9031945 Galt galactose-1-phosphate uridylyltransferase gene DOID:630 genetic disease ISO RGD:1315126 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:20547145|PMID:22461411|PMID:22944367|PMID:25124065|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:30718057|PMID:31954591|PMID:34233069|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294 9031945 Galt galactose-1-phosphate uridylyltransferase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315126 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9031945 Galt galactose-1-phosphate uridylyltransferase gene DOID:9870 galactosemia ISO RGD:1315126 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar Annotator: match by term: Galactosemia PMID:10037750|PMID:10070616|PMID:10220154|PMID:10384398|PMID:10399107|PMID:10408771|PMID:10424825|PMID:10439960|PMID:10529216|PMID:10535394|PMID:10573007|PMID:10649501|PMID:10811638|PMID:10884393|PMID:10952646|PMID:10960497|PMID:11113841|PMID:11152465|PMID:11216901|PMID:11261429|PMID:11286503|PMID:11286505|PMID:11397328|PMID:11479743|PMID:11511927|PMID:11596650|PMID:11678552|PMID:11754113|PMID:11919338|PMID:12208137|PMID:12350230|PMID:12491926|PMID:12552079|PMID:12595586|PMID:12872845|PMID:1301925|PMID:1373122|PMID:1427861|PMID:14518827|PMID:14728988|PMID:15172000|PMID:15633893|PMID:15749517|PMID:15775761|PMID:15841485|PMID:15986423|PMID:1610789|PMID:16167124|PMID:16199547|PMID:16540753|PMID:16765930|PMID:16838075|PMID:17041746|PMID:17079880|PMID:17143577|PMID:17221873|PMID:17486650|PMID:17576681|PMID:1766867|PMID:17876724|PMID:17884932|PMID:17957157|PMID:18207281|PMID:18210213|PMID:18813948|PMID:18956253|PMID:1897530|PMID:19181333|PMID:19224951|PMID:19375122|PMID:19418241|PMID:19581158|PMID:19904210|PMID:20008339|PMID:20100763|PMID:2011574|PMID:20151200|PMID:20213376|PMID:20301691|PMID:20348403|PMID:20351709|PMID:20547145|PMID:20663501|PMID:20863731|PMID:21150919|PMID:21188552|PMID:21228398|PMID:21501963|PMID:21779791|PMID:2233247|PMID:22461411|PMID:22693313|PMID:22729817|PMID:22743281|PMID:22870861|PMID:22944367|PMID:22963887|PMID:23022339|PMID:23151865|PMID:23319291|PMID:23418865|PMID:23430559|PMID:23583749|PMID:23690308|PMID:23749220|PMID:23924834|PMID:24033266|PMID:24045215|PMID:24718839|PMID:24973740|PMID:25052314|PMID:25087612|PMID:25124065|PMID:25268296|PMID:25525159|PMID:25592817|PMID:25614870|PMID:25622686|PMID:25681079|PMID:25741868|PMID:25814382|PMID:25936995|PMID:26565537|PMID:27005423|PMID:27176039|PMID:27308838|PMID:27363831|PMID:27415407|PMID:27578510|PMID:27603904|PMID:27629047|PMID:27878435|PMID:28065439|PMID:28173647|PMID:28391442|PMID:28492532|PMID:28644047|PMID:28649529|PMID:29252199|PMID:29261178|PMID:29350350|PMID:29653003|PMID:29892033|PMID:30172461|PMID:30231941|PMID:30275481|PMID:30718057|PMID:30808388|PMID:30987402|PMID:30994193|PMID:31029175|PMID:31042289|PMID:31194252|PMID:31194682|PMID:31194895|PMID:31267113|PMID:31358168|PMID:31395954|PMID:31450232|PMID:31637888|PMID:31804959|PMID:31954591|PMID:32072977|PMID:32903656|PMID:33101984|PMID:33113773|PMID:33335841|PMID:33636947|PMID:34030713|PMID:34233069|PMID:34426522|PMID:34485021|PMID:35118398|PMID:35432193|PMID:35464534|PMID:35677809|PMID:37563963|PMID:4759900|PMID:7550229|PMID:7573066|PMID:7671959|PMID:7887416|PMID:7887417|PMID:8040766|PMID:8051928|PMID:8198125|PMID:8421669|PMID:8499924|PMID:8522334|PMID:8551426|PMID:8598637|PMID:8692963|PMID:8741038|PMID:8869397|PMID:8892021|PMID:8943248|PMID:8956044|PMID:9012409|PMID:9202622|PMID:9222760|PMID:9323558|PMID:9396569|PMID:9450900|PMID:9536098|PMID:9635294|PMID:9686364|PMID:9766850|PMID:9772178 9031964 Sac3d1 SAC3 domain containing 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1607039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9031964 Sac3d1 SAC3 domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1607039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9031964 Sac3d1 SAC3 domain containing 1 gene DOID:1909 melanoma ISO RGD:1607039 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 9031964 Sac3d1 SAC3 domain containing 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1607039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9031964 Sac3d1 SAC3 domain containing 1 gene DOID:2746 glycogen storage disease V ISO RGD:1607039 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9031964 Sac3d1 SAC3 domain containing 1 gene DOID:3070 high grade glioma ISO RGD:1607039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9031964 Sac3d1 SAC3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1607039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031978 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:1603209 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 9031978 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:1603209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 9031978 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1603209 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 9031978 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603209 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9031978 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:10591 pre-eclampsia ISO RGD:1603209 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34995009 9031978 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:12849 autistic disorder ISO RGD:1603209 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9031978 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:630 genetic disease ISO RGD:1603209 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031978 Alkbh5 alkB homolog 5, RNA demethylase gene DOID:9538 multiple myeloma ISO RGD:1603209 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35038059 9031992 Mex3a mex-3 RNA binding family member A gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 9031992 Mex3a mex-3 RNA binding family member A gene DOID:0060586 Noonan syndrome 8 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:28492532 9031992 Mex3a mex-3 RNA binding family member A gene DOID:0111940 immunodeficiency 42 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9031992 Mex3a mex-3 RNA binding family member A gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9031992 Mex3a mex-3 RNA binding family member A gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1625811 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9031992 Mex3a mex-3 RNA binding family member A gene DOID:1540 parathyroid carcinoma ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9031992 Mex3a mex-3 RNA binding family member A gene DOID:5812 MHC class II deficiency ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9031992 Mex3a mex-3 RNA binding family member A gene DOID:630 genetic disease ISO RGD:1625811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031992 Mex3a mex-3 RNA binding family member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1625811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9031999 Clul1 clusterin like 1 gene DOID:12849 autistic disorder ISO RGD:1315705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9031999 Clul1 clusterin like 1 gene DOID:630 genetic disease ISO RGD:1315705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9031999 Clul1 clusterin like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9031999 Clul1 clusterin like 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1315705 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 9032028 Ggh gamma-glutamyl hydrolase gene DOID:0080600 COVID-19 ISO RGD:735324 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9032028 Ggh gamma-glutamyl hydrolase gene DOID:11054 urinary bladder cancer ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19815704 9032028 Ggh gamma-glutamyl hydrolase gene DOID:2671 transitional cell carcinoma ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19815704 9032028 Ggh gamma-glutamyl hydrolase gene DOID:630 genetic disease ISO RGD:735324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032028 Ggh gamma-glutamyl hydrolase gene DOID:7148 rheumatoid arthritis ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23897011 9032028 Ggh gamma-glutamyl hydrolase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9032028 Ggh gamma-glutamyl hydrolase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21219404 9032028 Ggh gamma-glutamyl hydrolase gene DOID:9008443 Colorectal Neoplasms ISO RGD:735324 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15814641 9032041 LOC102025783 olfactory receptor 52E1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1347048 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9032041 LOC102025783 olfactory receptor 52E1 gene DOID:630 genetic disease ISO RGD:1347048 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032080 Bcam basal cell adhesion molecule (Lutheran blood group) gene DOID:630 genetic disease ISO RGD:68545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032099 Ptbp2 polypyrimidine tract binding protein 2 gene DOID:630 genetic disease ISO RGD:1343835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032121 Chac2 ChaC glutathione specific gamma-glutamylcyclotransferase 2 gene DOID:630 genetic disease ISO RGD:1606619 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032128 Smlr1 small leucine rich protein 1 gene DOID:630 genetic disease ISO RGD:7205347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032136 Arhgap12 Rho GTPase activating protein 12 gene DOID:0080600 COVID-19 ISO RGD:1320676 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9032136 Arhgap12 Rho GTPase activating protein 12 gene DOID:630 genetic disease ISO RGD:1320676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032158 Gdf6 growth differentiation factor 6 gene DOID:0060836 isolated microphthalmia 4 ISO RGD:1347722 D RGD:7240710 20180130 OMIM 9032158 Gdf6 growth differentiation factor 6 gene DOID:0060836 isolated microphthalmia 4 ISO RGD:1347722 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 4 PMID:18425797|PMID:19129173|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436|PMID:38025229 9032158 Gdf6 growth differentiation factor 6 gene DOID:0080205 CAKUT ISO RGD:1347722 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:18425797|PMID:19129173|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436|PMID:38025229 9032158 Gdf6 growth differentiation factor 6 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1347722 D RGD:7240710 20180130 OMIM 9032158 Gdf6 growth differentiation factor 6 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1347722 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:18425797|PMID:19129173|PMID:19864492|PMID:20057906|PMID:20494911|PMID:21070663|PMID:22204637|PMID:23307924|PMID:24033266|PMID:24442880|PMID:25741868|PMID:25741869|PMID:28492532|PMID:32737436|PMID:38025229|PMID:9129173 9032158 Gdf6 growth differentiation factor 6 gene DOID:0081320 multiple synostoses syndrome 4 ISO RGD:1347722 D RGD:7240710 20190315 OMIM 9032158 Gdf6 growth differentiation factor 6 gene DOID:0081320 multiple synostoses syndrome 4 ISO RGD:1347722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 4 PMID:25741868|PMID:26643732|PMID:29130651 9032158 Gdf6 growth differentiation factor 6 gene DOID:0110217 Leber congenital amaurosis 17 ISO RGD:1347722 D RGD:7240710 20180130 OMIM 9032158 Gdf6 growth differentiation factor 6 gene DOID:0110217 Leber congenital amaurosis 17 ISO RGD:1347722 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 17 PMID:18425797|PMID:19129173|PMID:19864492|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436|PMID:38025229 9032158 Gdf6 growth differentiation factor 6 gene DOID:10426 Klippel-Feil syndrome ISO RGD:1347722 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Klippel-Feil syndrome PMID:18425797|PMID:19129173|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436|PMID:38025229 9032158 Gdf6 growth differentiation factor 6 gene DOID:630 genetic disease ISO RGD:1347722 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9032158 Gdf6 growth differentiation factor 6 gene DOID:674 cleft palate ISO RGD:1347722 D RGD:9068941 20200609 RGD PMID:18716610|REF_RGD_ID:12798509 9032158 Gdf6 growth differentiation factor 6 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1347722 D RGD:7240710 20180130 OMIM 9032158 Gdf6 growth differentiation factor 6 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1347722 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 PMID:18425797|PMID:19129173|PMID:19864492|PMID:23307924|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32737436|PMID:38025229 9032158 Gdf6 growth differentiation factor 6 gene DOID:9296 cleft lip ISO RGD:1347722 D RGD:9068941 20200609 RGD PMID:18716610|REF_RGD_ID:12798509 9032194 Gramd2a GRAM domain containing 2A gene DOID:2717 Bloom syndrome ISO RGD:1605266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9032194 Gramd2a GRAM domain containing 2A gene DOID:3320 Tay-Sachs disease ISO RGD:1605266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:28492532|PMID:8490625 9032194 Gramd2a GRAM domain containing 2A gene DOID:630 genetic disease ISO RGD:1605266 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032194 Gramd2a GRAM domain containing 2A gene DOID:9256 colorectal cancer ISO RGD:1605266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9032222 Fam181a family with sequence similarity 181 member A gene DOID:0080054 achondrogenesis type IA ISO RGD:1319141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 9032222 Fam181a family with sequence similarity 181 member A gene DOID:0081063 DICER1 syndrome ISO RGD:1319141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 9032222 Fam181a family with sequence similarity 181 member A gene DOID:4769 pleuropulmonary blastoma ISO RGD:1319141 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 9032222 Fam181a family with sequence similarity 181 member A gene DOID:630 genetic disease ISO RGD:1319141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032234 Chrm4 cholinergic receptor muscarinic 4 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:68976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 9032234 Chrm4 cholinergic receptor muscarinic 4 gene DOID:1059 intellectual disability ISO RGD:68976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9032234 Chrm4 cholinergic receptor muscarinic 4 gene DOID:6000 congestive heart failure ISO RGD:2344 D RGD:9068941 20200609 RGD associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum PMID:16497176|REF_RGD_ID:1642301 9032234 Chrm4 cholinergic receptor muscarinic 4 gene DOID:630 genetic disease ISO RGD:68976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032234 Chrm4 cholinergic receptor muscarinic 4 gene DOID:9000495 Tremor ISO RGD:68976 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9920179 9032234 Chrm4 cholinergic receptor muscarinic 4 gene DOID:9008086 Developmental Disabilities ISO RGD:68976 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9032234 Chrm4 cholinergic receptor muscarinic 4 gene DOID:9008639 Catatonia ISO RGD:68976 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15273762 9032256 Cep126 centrosomal protein 126 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1606251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 9032256 Cep126 centrosomal protein 126 gene DOID:0080600 COVID-19 ISO RGD:1606251 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9032256 Cep126 centrosomal protein 126 gene DOID:1059 intellectual disability ISO RGD:1606251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9032256 Cep126 centrosomal protein 126 gene DOID:12704 ataxia telangiectasia ISO RGD:1606251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 9032256 Cep126 centrosomal protein 126 gene DOID:630 genetic disease ISO RGD:1606251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032302 Ccdc66 coiled-coil domain containing 66 gene DOID:10584 retinitis pigmentosa ISO RGD:1620471 D RGD:9068941 20220825 MouseDO OMIM:268000 9032302 Ccdc66 coiled-coil domain containing 66 gene DOID:630 genetic disease ISO RGD:1605241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032302 Ccdc66 coiled-coil domain containing 66 gene DOID:8466 retinal degeneration ISO RGD:12351932 D RGD:9068941 20231207 OMIA Retinal atrophy, progressive, CCDC66-related PMID:17327822|PMID:19777273|PMID:22065099|PMID:33273526|PMID:38028226 9032342 Clhc1 clathrin heavy chain linker domain containing 1 gene DOID:630 genetic disease ISO RGD:1606727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032378 Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:0080054 achondrogenesis type IA ISO RGD:1315448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 9032378 Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:0081063 DICER1 syndrome ISO RGD:1315448 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 9032378 Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:4769 pleuropulmonary blastoma ISO RGD:1315448 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 9032378 Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:630 genetic disease ISO RGD:1315448 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032378 Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1315448 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9032392 LOC102011733 cytochrome b-c1 complex subunit 9 gene DOID:0111252 vestibular schwannomatosis ISO RGD:1604015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:10220142|PMID:15645494|PMID:16983642|PMID:28492532|PMID:9643284|PMID:9817927 9032392 LOC102011733 cytochrome b-c1 complex subunit 9 gene DOID:630 genetic disease ISO RGD:1604015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032392 LOC102011733 cytochrome b-c1 complex subunit 9 gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604015 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21876083|PMID:24713400|PMID:28492532 9032403 Rpusd1 RNA pseudouridine synthase domain containing 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 9032403 Rpusd1 RNA pseudouridine synthase domain containing 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1344939 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 9032403 Rpusd1 RNA pseudouridine synthase domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9032403 Rpusd1 RNA pseudouridine synthase domain containing 1 gene DOID:1826 epilepsy ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9032403 Rpusd1 RNA pseudouridine synthase domain containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1344939 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9032403 Rpusd1 RNA pseudouridine synthase domain containing 1 gene DOID:630 genetic disease ISO RGD:1344939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032422 Glp1r glucagon like peptide 1 receptor gene DOID:10603 glucose intolerance susceptibility ISO RGD:10655 D RGD:9068941 20200609 RGD PMID:8898756|REF_RGD_ID:1624349 9032422 Glp1r glucagon like peptide 1 receptor gene DOID:10763 hypertension ISO RGD:2703 D RGD:9068941 20200609 RGD PMID:12093887|REF_RGD_ID:625448 9032422 Glp1r glucagon like peptide 1 receptor gene DOID:10763 hypertension ISO RGD:736638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 9032422 Glp1r glucagon like peptide 1 receptor gene DOID:14566 disease of cellular proliferation ISO RGD:736638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471186 9032422 Glp1r glucagon like peptide 1 receptor gene DOID:1824 status epilepticus ISO RGD:10655 D RGD:9068941 20200609 RGD PMID:12925848|REF_RGD_ID:1598440 9032422 Glp1r glucagon like peptide 1 receptor gene DOID:4195 hyperglycemia ISO RGD:2703 D RGD:9068941 20200609 RGD PMID:15879053|REF_RGD_ID:1624350 9032422 Glp1r glucagon like peptide 1 receptor gene DOID:630 genetic disease ISO RGD:736638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032422 Glp1r glucagon like peptide 1 receptor gene DOID:9002221 Hyperplasia ISO RGD:736638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23471186 9032422 Glp1r glucagon like peptide 1 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2703 D RGD:9068941 20200609 RGD PMID:10580413|REF_RGD_ID:1624356 9032422 Glp1r glucagon like peptide 1 receptor gene DOID:9352 type 2 diabetes mellitus ISO RGD:736638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 9032422 Glp1r glucagon like peptide 1 receptor gene DOID:9970 obesity ISO RGD:2703 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus medial zone PMID:15279492|REF_RGD_ID:1624351 9032439 Dhx40 DEAH-box helicase 40 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1350869 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9032439 Dhx40 DEAH-box helicase 40 gene DOID:630 genetic disease ISO RGD:1350869 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032463 Iapp islet amyloid polypeptide gene DOID:10808 gastric ulcer ISO RGD:737044 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9286623 9032463 Iapp islet amyloid polypeptide gene DOID:630 genetic disease ISO RGD:737044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032463 Iapp islet amyloid polypeptide gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 9032463 Iapp islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366|PMID:23793354 9032463 Iapp islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 RGD PMID:18641056|PMID:19100955|REF_RGD_ID:2311446|REF_RGD_ID:2313359 9032463 Iapp islet amyloid polypeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet (human) PMID:2441214|REF_RGD_ID:9686128 9032463 Iapp islet amyloid polypeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 RGD PMID:19190104|REF_RGD_ID:2313356 9032463 Iapp islet amyloid polypeptide gene DOID:9744 type 1 diabetes mellitus ISO RGD:737044 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:19033417|REF_RGD_ID:2313357 9032470 Cbfb core-binding factor subunit beta gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1320589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9032470 Cbfb core-binding factor subunit beta gene DOID:0080006 bone development disease ISO RGD:1320589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 9032470 Cbfb core-binding factor subunit beta gene DOID:0081082 acute myelomonocytic leukemia ISO RGD:1320589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10958941 9032470 Cbfb core-binding factor subunit beta gene DOID:0081082 acute myelomonocytic leukemia susceptibility ISO RGD:1320589 D RGD:9068941 20200609 RGD DNA:inversion: :inv(16)(p13q22) PMID:8351518|REF_RGD_ID:1599543 9032470 Cbfb core-binding factor subunit beta gene DOID:0110255 cataract 5 multiple types ISO RGD:1320589 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Cataract 5 multiple types PMID:15959809|PMID:20421844|PMID:23329665|PMID:28492532 9032470 Cbfb core-binding factor subunit beta gene DOID:1682 congenital heart disease ISO RGD:1320589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 9032470 Cbfb core-binding factor subunit beta gene DOID:630 genetic disease ISO RGD:1320589 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032470 Cbfb core-binding factor subunit beta gene DOID:674 cleft palate ISO RGD:1320589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 9032470 Cbfb core-binding factor subunit beta gene DOID:684 hepatocellular carcinoma ISO RGD:1320589 D RGD:9068941 20210409 RGD mRNA:decreased expression:liver PMID:17094378|REF_RGD_ID:126775147 9032470 Cbfb core-binding factor subunit beta gene DOID:9003295 Heterotopic Ossification ISO RGD:1320589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17022082 9032470 Cbfb core-binding factor subunit beta gene DOID:9006628 Cleidocranial Dysplasia 2 ISO RGD:1320589 D RGD:7240710 20221102 OMIM 9032470 Cbfb core-binding factor subunit beta gene DOID:9006628 Cleidocranial Dysplasia 2 ISO RGD:1320589 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cleidocranial dysplasia 2 PMID:25741868|PMID:36241386 9032470 Cbfb core-binding factor subunit beta gene DOID:9119 acute myeloid leukemia ISO RGD:1320589 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:25741868|PMID:36241386 9032485 Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0050579 glycogen storage disease XV ISO RGD:1321513 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 9032485 Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0050711 aceruloplasminemia ISO RGD:1321513 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of ferroxidase PMID:18414213|PMID:24033266|PMID:28492532 9032485 Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060539 Hermansky-Pudlak syndrome 1 ISO RGD:1321513 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells PMID:11590544|PMID:25741868|PMID:28492532|PMID:31898847 9032485 Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1321513 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:11590544|PMID:25741868|PMID:28492532|PMID:31898847|PMID:32581362 9032485 Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:1321513 D RGD:7240710 20180130 OMIM 9032485 Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0060541 Hermansky-Pudlak syndrome 3 ISO RGD:1321513 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 PMID:11455388|PMID:11590544|PMID:16199547|PMID:17576681|PMID:17933573|PMID:18414213|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26575419|PMID:27593200|PMID:28492532|PMID:30387913|PMID:30791930|PMID:30990103|PMID:31064749|PMID:31141302|PMID:31880485|PMID:31898847|PMID:32581362|PMID:32725903|PMID:35886065|PMID:9536098 9032485 Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1321513 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9032485 Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:10283 prostate cancer ISO RGD:1321513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9032485 Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:2213 hemorrhagic disease ISO RGD:1321513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 9032485 Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:2223 platelet storage pool deficiency ISO RGD:1321514 D RGD:9068941 20220825 MouseDO OMIM:185050 9032485 Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1321513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:11590544|PMID:16199547|PMID:17933573|PMID:18414213|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26575419|PMID:27593200|PMID:28492532|PMID:30387913|PMID:30990103|PMID:31064749|PMID:31141302|PMID:31898847|PMID:32581362|PMID:35886065 9032485 Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene DOID:630 genetic disease ISO RGD:1321513 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:0050686 organ system cancer ISO RGD:1352690 D RGD:9068941 20220715 RGD DNA:SNP:CDS:rs4141134 (human) PMID:25158664|REF_RGD_ID:152998994 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:1205 allergic disease ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:1324 lung cancer susceptibility ISO RGD:1352690 D RGD:9068941 20220714 RGD DNA:SNP:CDS:multiple (human) PMID:30895747|REF_RGD_ID:152998976 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:1474 aggressive periodontitis ISO RGD:1352690 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: :rs3819370, rs3218974,rs3218977(human) PMID:24818754|REF_RGD_ID:8662885 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:1474 aggressive periodontitis ISO RGD:1352690 D RGD:9068941 20200609 RGD associated with Periodontitis; PMID:18315432|REF_RGD_ID:8662884 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1352690 D RGD:9068941 20220714 RGD mRNA:altered expression:lung (human) PMID:31921619|REF_RGD_ID:152998982 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:3910 lung adenocarcinoma severity ISO RGD:1352690 D RGD:9068941 20220715 RGD mRNA:increased expression:lung (human) PMID:29942094|REF_RGD_ID:152998998 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:409 liver disease ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1352690 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:5041 esophageal cancer susceptibility ISO RGD:1352690 D RGD:9068941 20220714 RGD DNA:SNP:cds:rs11674595|rs2072472 (human) PMID:31744444|REF_RGD_ID:152998961 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:552 pneumonia ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:552 pneumonia ISO RGD:1352690 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:630 genetic disease ISO RGD:1352690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:7147 ankylosing spondylitis ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062062 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:8577 ulcerative colitis ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:9000307 Presbycusis ISO RGD:731689 D RGD:9068941 20200609 RGD PMID:22652460|REF_RGD_ID:8662870 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:9005172 Lung Neoplasms ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 9032521 Il1r2 interleukin 1 receptor type 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1352690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17984051 9032542 Vps39 VPS39 subunit of HOPS complex gene DOID:0050753 cerebellar ataxia ISO RGD:1312537 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 9032542 Vps39 VPS39 subunit of HOPS complex gene DOID:2717 Bloom syndrome ISO RGD:1312537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9032542 Vps39 VPS39 subunit of HOPS complex gene DOID:5419 schizophrenia ISO RGD:1312537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23042115 9032542 Vps39 VPS39 subunit of HOPS complex gene DOID:630 genetic disease ISO RGD:1312537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032542 Vps39 VPS39 subunit of HOPS complex gene DOID:9008939 Breast Neoplasms ISO RGD:1312537 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 9032542 Vps39 VPS39 subunit of HOPS complex gene DOID:9256 colorectal cancer ISO RGD:1312537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9032575 Unc93a unc-93 homolog A gene DOID:630 genetic disease ISO RGD:1343732 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032631 Fbxl4 F-box and leucine rich repeat protein 4 gene DOID:0070329 mitochondrial DNA depletion syndrome ISO RGD:1313923 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:23993193|PMID:24033266|PMID:25741868|PMID:27099744|PMID:27290639|PMID:30771478|PMID:30804983 9032631 Fbxl4 F-box and leucine rich repeat protein 4 gene DOID:0080131 mitochondrial DNA depletion syndrome 13 ISO RGD:1313923 D RGD:7240710 20180130 OMIM 9032631 Fbxl4 F-box and leucine rich repeat protein 4 gene DOID:0080131 mitochondrial DNA depletion syndrome 13 ISO RGD:1313923 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) PMID:16199547|PMID:23993193|PMID:23993194|PMID:24033266|PMID:24088041|PMID:25326635|PMID:25558065|PMID:25741868|PMID:25868664|PMID:26633545|PMID:27099744|PMID:27182039|PMID:27182309|PMID:27290639|PMID:27743463|PMID:27858371|PMID:28327206|PMID:28492532|PMID:28940506|PMID:30771478|PMID:30804983|PMID:31474762|PMID:32348839|PMID:32445240|PMID:32576985|PMID:34052969|PMID:34056100|PMID:34602956 9032631 Fbxl4 F-box and leucine rich repeat protein 4 gene DOID:3652 Leigh disease ISO RGD:1313923 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:23993194|PMID:25558065|PMID:25741868|PMID:25868664|PMID:27743463|PMID:28492532|PMID:28940506|PMID:30804983|PMID:34052969|PMID:34056100 9032631 Fbxl4 F-box and leucine rich repeat protein 4 gene DOID:630 genetic disease ISO RGD:1313923 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23993193|PMID:23993194|PMID:24033266|PMID:24088041|PMID:25558065|PMID:25741868|PMID:25868664|PMID:26633545|PMID:27099744|PMID:27290639|PMID:27743463|PMID:28492532|PMID:28940506|PMID:29565416|PMID:30771478|PMID:30804983|PMID:32576985|PMID:34052969|PMID:34056100 9032631 Fbxl4 F-box and leucine rich repeat protein 4 gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1313923 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:23993194|PMID:25558065|PMID:25741868|PMID:25868664|PMID:27743463|PMID:28492532|PMID:28940506|PMID:30804983|PMID:34052969|PMID:34056100 9032667 Syce2 synaptonemal complex central element protein 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1603348 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 9032667 Syce2 synaptonemal complex central element protein 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1603348 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9032667 Syce2 synaptonemal complex central element protein 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1603348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:10960496|PMID:11058907|PMID:11073722|PMID:11854167|PMID:12948740|PMID:15248096|PMID:15505393|PMID:16602100|PMID:17188916|PMID:17478444|PMID:17576681|PMID:18683078|PMID:18926513|PMID:19486177|PMID:1951469|PMID:19630565|PMID:21031586|PMID:21176883|PMID:22728054|PMID:23104440|PMID:24973495|PMID:25256449|PMID:25735478|PMID:25741868|PMID:27250579|PMID:27672653|PMID:28302372|PMID:28438223|PMID:28492532|PMID:29201125|PMID:29665094|PMID:31536184|PMID:31952437|PMID:32005694|PMID:34258142|PMID:34344405|PMID:8900227|PMID:8900228|PMID:9536098|PMID:9600243|PMID:9711871 9032667 Syce2 synaptonemal complex central element protein 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1603348 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9032667 Syce2 synaptonemal complex central element protein 2 gene DOID:630 genetic disease ISO RGD:1603348 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9032667 Syce2 synaptonemal complex central element protein 2 gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1603348 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 9032667 Syce2 synaptonemal complex central element protein 2 gene DOID:9009132 Glutaric Aciduria ISO RGD:1603348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric acidemia PMID:25741868 9032684 Ccdc180 coiled-coil domain containing 180 gene DOID:10316 pneumoconiosis ISO RGD:4110705 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 9032684 Ccdc180 coiled-coil domain containing 180 gene DOID:1059 intellectual disability ISO RGD:4110705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9032684 Ccdc180 coiled-coil domain containing 180 gene DOID:10941 intracranial aneurysm ISO RGD:4110705 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Mycotic Aneurysm, Intracranial PMID:25741868 9032684 Ccdc180 coiled-coil domain containing 180 gene DOID:3007 breast ductal carcinoma ISO RGD:4110705 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 9032684 Ccdc180 coiled-coil domain containing 180 gene DOID:630 genetic disease ISO RGD:4110705 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032728 Elof1 elongation factor 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1601839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 9032728 Elof1 elongation factor 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1601839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9032728 Elof1 elongation factor 1 gene DOID:0111254 glutaric acidemia I ISO RGD:1601839 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 9032728 Elof1 elongation factor 1 gene DOID:3413 alpha-mannosidosis ISO RGD:1601839 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9032728 Elof1 elongation factor 1 gene DOID:630 genetic disease ISO RGD:1601839 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032736 Klf8 KLF transcription factor 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9032736 Klf8 KLF transcription factor 8 gene DOID:12849 autistic disorder ISO RGD:1348117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9032736 Klf8 KLF transcription factor 8 gene DOID:630 genetic disease ISO RGD:1348117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032743 Rwdd1 RWD domain containing 1 gene DOID:0060163 body dysmorphic disorder ISO RGD:732573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 9032743 Rwdd1 RWD domain containing 1 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:732573 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 9032743 Rwdd1 RWD domain containing 1 gene DOID:1059 intellectual disability ISO RGD:732573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:24824130 9032743 Rwdd1 RWD domain containing 1 gene DOID:10907 microcephaly ISO RGD:732573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 9032743 Rwdd1 RWD domain containing 1 gene DOID:1826 epilepsy ISO RGD:732573 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9032743 Rwdd1 RWD domain containing 1 gene DOID:630 genetic disease ISO RGD:732573 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032743 Rwdd1 RWD domain containing 1 gene DOID:9000495 Tremor ISO RGD:732573 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 9032764 Aire autoimmune regulator gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1322440 D RGD:7240710 20180130 OMIM 9032764 Aire autoimmune regulator gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1322440 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:10084559|PMID:10677297|PMID:10720083|PMID:10946904|PMID:11207636|PMID:11275943|PMID:11298085|PMID:11343230|PMID:11524731|PMID:11524733|PMID:11600535|PMID:11836330|PMID:12050215|PMID:12173302|PMID:12471056|PMID:12503856|PMID:12542742|PMID:12625412|PMID:12843157|PMID:14557425|PMID:14582926|PMID:14974083|PMID:15511668|PMID:15712268|PMID:15811934|PMID:16114041|PMID:16166780|PMID:16199547|PMID:16313305|PMID:16684821|PMID:16774540|PMID:16784312|PMID:16792967|PMID:16965330|PMID:17101293|PMID:17118990|PMID:17189144|PMID:17220063|PMID:17289071|PMID:17539912|PMID:17547716|PMID:17576681|PMID:17675238|PMID:17997173|PMID:18200029|PMID:18248641|PMID:18264745|PMID:18274776|PMID:18320920|PMID:1836330|PMID:18399903|PMID:18414213|PMID:18414681|PMID:18426830|PMID:18616706|PMID:18682433|PMID:18708298|PMID:18713028|PMID:18728167|PMID:19037923|PMID:19209622|PMID:19246027|PMID:19265170|PMID:19322061|PMID:19758376|PMID:19807739|PMID:19863576|PMID:20140861|PMID:20185822|PMID:20407228|PMID:20453472|PMID:20718774|PMID:21070315|PMID:21295522|PMID:21505073|PMID:21508664|PMID:21724609|PMID:21865375|PMID:21932610|PMID:22024611|PMID:22104652|PMID:22162465|PMID:23000069|PMID:23074189|PMID:23133448|PMID:23320549|PMID:23342054|PMID:23620608|PMID:23643663|PMID:24014553|PMID:24033266|PMID:24158785|PMID:24703644|PMID:24948345|PMID:25064028|PMID:25068407|PMID:25361846|PMID:25367057|PMID:25402387|PMID:25707324|PMID:25741868|PMID:26084028|PMID:26114819|PMID:26141571|PMID:26467025|PMID:26650942|PMID:26915675|PMID:27048654|PMID:27105486|PMID:27253668|PMID:27266815|PMID:27504588|PMID:27588307|PMID:27646917|PMID:27884173|PMID:28323927|PMID:28446514|PMID:28472507|PMID:28492532|PMID:28567288|PMID:28911151|PMID:28919897|PMID:29129473|PMID:29335648|PMID:2943776|PMID:29437776|PMID:29666621|PMID:30003128|PMID:30287219|PMID:30290665|PMID:30697212|PMID:30863741|PMID:31420020|PMID:31433868|PMID:31588815|PMID:31589614|PMID:31874111|PMID:32373116|PMID:32441320|PMID:32531373|PMID:32627016|PMID:32767280|PMID:32888943|PMID:33225392|PMID:33352647|PMID:33468135|PMID:33574239|PMID:33599910|PMID:34008892|PMID:34426522|PMID:34573280|PMID:34846681|PMID:35482138|PMID:35521792|PMID:35753512|PMID:6031738|PMID:9398839|PMID:9398840|PMID:9536098|PMID:9717837|PMID:9837820|PMID:9856486|PMID:9888391|PMID:9921903 9032764 Aire autoimmune regulator gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1322440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 9032764 Aire autoimmune regulator gene DOID:0110266 cataract 9 multiple types ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 9032764 Aire autoimmune regulator gene DOID:12842 Guillain-Barre syndrome ISO RGD:1322441 D RGD:9068941 20220825 MouseDO OMIM:139393 9032764 Aire autoimmune regulator gene DOID:12849 autistic disorder ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9032764 Aire autoimmune regulator gene DOID:12894 Sjogren's syndrome ISO RGD:1322441 D RGD:9068941 20220825 MouseDO OMIM:270150 9032764 Aire autoimmune regulator gene DOID:14040 autoimmune polyendocrine syndrome ISO RGD:1311139 D RGD:9068941 20200910 RGD PMID:29959280|REF_RGD_ID:38599145 9032764 Aire autoimmune regulator gene DOID:14040 autoimmune polyendocrine syndrome ISO RGD:1322440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16982213 9032764 Aire autoimmune regulator gene DOID:14040 autoimmune polyendocrine syndrome susceptibility ISO RGD:1322440 D RGD:9068941 20200609 RGD PMID:9921903|REF_RGD_ID:1599008 9032764 Aire autoimmune regulator gene DOID:1508 candidiasis ISO RGD:1322440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12050215 9032764 Aire autoimmune regulator gene DOID:612 primary immunodeficiency disease ISO RGD:1322440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:16965330|PMID:19758376|PMID:25741868|PMID:28446514|PMID:28492532|PMID:28911151 9032764 Aire autoimmune regulator gene DOID:630 genetic disease ISO RGD:1322440 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 9032764 Aire autoimmune regulator gene DOID:891 progressive myoclonus epilepsy ISO RGD:1322440 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 9032764 Aire autoimmune regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9032764 Aire autoimmune regulator gene DOID:9004464 Skin Neoplasms ISO RGD:1322440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26168014 9032764 Aire autoimmune regulator gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:1322441 D RGD:9068941 20200609 RGD PMID:18399912|REF_RGD_ID:2306853 9032764 Aire autoimmune regulator gene DOID:9263 homocystinuria ISO RGD:1322440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 9032764 Aire autoimmune regulator gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322440 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9032786 Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:0111996 immunodeficiency 51 ISO RGD:1315242 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 9032786 Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:630 genetic disease ISO RGD:1315242 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032786 Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315242 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9032786 Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 gene DOID:9008412 Polyarteritis Nodosa, Childhood-Onset ISO RGD:1315242 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532 9032847 Zranb2 zinc finger RANBP2-type containing 2 gene DOID:1059 intellectual disability ISO RGD:736628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 9032847 Zranb2 zinc finger RANBP2-type containing 2 gene DOID:630 genetic disease ISO RGD:736628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032861 Plekhg4 pleckstrin homology and RhoGEF domain containing G4 gene DOID:0050980 spinocerebellar ataxia type 31 ISO RGD:1604025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 PMID:16001362|PMID:16614795|PMID:16780885 9032861 Plekhg4 pleckstrin homology and RhoGEF domain containing G4 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1604025 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9032861 Plekhg4 pleckstrin homology and RhoGEF domain containing G4 gene DOID:630 genetic disease ISO RGD:1604025 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032890 Htt huntingtin gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 9032890 Htt huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:7240710 20180130 OMIM 9032890 Htt huntingtin gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Huntington disease PMID:25741868|PMID:28492532 9032890 Htt huntingtin gene DOID:12858 Huntington's disease onset ISO RGD:68472 D RGD:9068941 20200609 RGD DNA:repeats:cds:CAG (human) PMID:8242074|REF_RGD_ID:10403029 9032890 Htt huntingtin gene DOID:12858 Huntington's disease treatment ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:17940007|REF_RGD_ID:10403026 9032890 Htt huntingtin gene DOID:14330 Parkinson's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:26192120|REF_RGD_ID:13452383 9032890 Htt huntingtin gene DOID:1856 cherubism ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 9032890 Htt huntingtin gene DOID:1969 cerebral palsy ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 9032890 Htt huntingtin gene DOID:224 transient cerebral ischemia ISO RGD:68337 D RGD:9068941 20200609 RGD protein:increased degradation:brain PMID:12957494|REF_RGD_ID:1304431 9032890 Htt huntingtin gene DOID:480 movement disease ISO RGD:68472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20929960 9032890 Htt huntingtin gene DOID:630 genetic disease ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9032890 Htt huntingtin gene DOID:9000304 Manganese Poisoning ISO RGD:68472 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19845833 9032890 Htt huntingtin gene DOID:9000409 Lopes-Maciel-Rodan Syndrome ISO RGD:68472 D RGD:7240710 20190315 OMIM 9032890 Htt huntingtin gene DOID:9000409 Lopes-Maciel-Rodan Syndrome ISO RGD:68472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lopes-Maciel-Rodan syndrome PMID:25741868|PMID:26740508|PMID:27329733|PMID:28492532|PMID:33116287 9032890 Htt huntingtin gene DOID:9001191 Cadmium Poisoning ISO RGD:68472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19845833 9032975 Rsph3 radial spoke head 3 gene DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ISO RGD:1322691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome PMID:15220921|PMID:22683713|PMID:26863999|PMID:28492532 9032975 Rsph3 radial spoke head 3 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1322691 D RGD:7240710 20180130 OMIM 9032975 Rsph3 radial spoke head 3 gene DOID:0110603 primary ciliary dyskinesia 32 ISO RGD:1322691 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:16199547|PMID:17576681|PMID:25741868|PMID:26073779|PMID:26167114|PMID:28492532|PMID:9536098 9032975 Rsph3 radial spoke head 3 gene DOID:630 genetic disease ISO RGD:1322691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9032975 Rsph3 radial spoke head 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1322691 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 9032997 Angptl3 angiopoietin like 3 gene DOID:0080415 developmental and epileptic encephalopathy 23 ISO RGD:1346260 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 PMID:22247256|PMID:24814191|PMID:25741868|PMID:28385496|PMID:28492532 9032997 Angptl3 angiopoietin like 3 gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:1346260 D RGD:7240710 20180130 OMIM 9032997 Angptl3 angiopoietin like 3 gene DOID:0111061 familial hypobetalipoproteinemia 2 ISO RGD:1346260 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2 PMID:19075393|PMID:20942659|PMID:22062970|PMID:22247256|PMID:25741868|PMID:28492532|PMID:32041611 9032997 Angptl3 angiopoietin like 3 gene DOID:1059 intellectual disability ISO RGD:1346260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 9032997 Angptl3 angiopoietin like 3 gene DOID:630 genetic disease ISO RGD:1346260 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32041611 9032997 Angptl3 angiopoietin like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9032997 Angptl3 angiopoietin like 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1557682 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:15094378|REF_RGD_ID:2314234 9032997 Angptl3 angiopoietin like 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1557682 D RGD:9068941 20200609 RGD PMID:12672813|REF_RGD_ID:1578347 9032997 Angptl3 angiopoietin like 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1557682 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:15094378|REF_RGD_ID:2314234 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:0070139 autosomal recessive cutis laxa type IC ISO RGD:1315988 D RGD:7240710 20180130 OMIM 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:0070139 autosomal recessive cutis laxa type IC ISO RGD:1315988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC PMID:16199547|PMID:19836010|PMID:22829427|PMID:24033266|PMID:25741868|PMID:25882708|PMID:28492532|PMID:31115174|PMID:35972031 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:0080600 COVID-19 ISO RGD:1315988 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:114 heart disease ISO RGD:1315989 D RGD:9068941 20200609 RGD PMID:12208849|REF_RGD_ID:1582112 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:2340 craniosynostosis ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:3068 glioblastoma ISO RGD:1315988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27270107 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:3144 cutis laxa ISO RGD:1315988 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cutis laxa 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:630 genetic disease ISO RGD:1315988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1315988 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27270107 9033008 Ltbp4 latent transforming growth factor beta binding protein 4 gene DOID:9269 maple syrup urine disease ISO RGD:1315988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9033046 LOC102010472 olfactory receptor 688 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1348653 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9033046 LOC102010472 olfactory receptor 688 gene DOID:630 genetic disease ISO RGD:1348653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033050 Cenpe centromere protein E gene DOID:0070283 primary autosomal recessive microcephaly 13 ISO RGD:1316119 D RGD:7240710 20180130 OMIM 9033050 Cenpe centromere protein E gene DOID:0070283 primary autosomal recessive microcephaly 13 ISO RGD:1316119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CENPE-related condition | ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive PMID:24748105|PMID:25741868 9033050 Cenpe centromere protein E gene DOID:12849 autistic disorder ISO RGD:1316119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 9033050 Cenpe centromere protein E gene DOID:3633 beta-mannosidosis ISO RGD:1316119 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 9033050 Cenpe centromere protein E gene DOID:630 genetic disease ISO RGD:1316119 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9033050 Cenpe centromere protein E gene DOID:684 hepatocellular carcinoma ISO RGD:1316119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9033119 Rasa4b RAS p21 protein activator 4B gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:2306251 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9033162 Pex14 peroxisomal biogenesis factor 14 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 9033162 Pex14 peroxisomal biogenesis factor 14 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:68470 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9033162 Pex14 peroxisomal biogenesis factor 14 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:68470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146459|PMID:18285423|PMID:20647552 9033162 Pex14 peroxisomal biogenesis factor 14 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 9033162 Pex14 peroxisomal biogenesis factor 14 gene DOID:0080487 peroxisome biogenesis disorder 13A ISO RGD:68470 D RGD:7240710 20180425 OMIM 9033162 Pex14 peroxisomal biogenesis factor 14 gene DOID:0080487 peroxisome biogenesis disorder 13A ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A (Zellweger) PMID:15146459|PMID:18285423|PMID:25741868|PMID:28492532 9033162 Pex14 peroxisomal biogenesis factor 14 gene DOID:0111936 immunodeficiency 14 ISO RGD:68470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 9033162 Pex14 peroxisomal biogenesis factor 14 gene DOID:5119 ovarian cyst ISO RGD:68470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 9033162 Pex14 peroxisomal biogenesis factor 14 gene DOID:630 genetic disease ISO RGD:68470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9033162 Pex14 peroxisomal biogenesis factor 14 gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:68470 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:15146459|PMID:16199547|PMID:17576681|PMID:18285423|PMID:25640679|PMID:25741868|PMID:26627464|PMID:28492532|PMID:33547378|PMID:9536098 9033162 Pex14 peroxisomal biogenesis factor 14 gene DOID:905 Zellweger syndrome ISO RGD:68470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15146459|PMID:18285423 9033175 Git2 GIT ArfGAP 2 gene DOID:0050589 inflammatory bowel disease ISO RGD:1345420 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:37156999 9033175 Git2 GIT ArfGAP 2 gene DOID:630 genetic disease ISO RGD:1345420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033228 Evi2b ecotropic viral integration site 2B gene DOID:0111253 neurofibromatosis 1 ISO RGD:1347396 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10587576|PMID:10607834|PMID:10631140|PMID:10712197|PMID:10980545|PMID:11857752|PMID:12566521|PMID:12807981|PMID:14722914|PMID:15257518|PMID:1568247|PMID:16199547|PMID:16283621|PMID:16786508|PMID:18183042|PMID:18196300|PMID:19221814|PMID:20513137|PMID:22241097|PMID:22807134|PMID:22837079|PMID:23244495|PMID:23532973|PMID:23913538|PMID:24033266|PMID:24232412|PMID:24357598|PMID:24958239|PMID:25205021|PMID:25480383|PMID:25541118|PMID:25631097|PMID:25640679|PMID:25741868|PMID:26178382|PMID:26189818|PMID:26458495|PMID:26635368|PMID:26740943|PMID:27322474|PMID:27629806|PMID:28492532|PMID:30530636|PMID:33877690|PMID:8116612|PMID:8931693|PMID:9643287 9033228 Evi2b ecotropic viral integration site 2B gene DOID:1969 cerebral palsy ISO RGD:1347396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 9033228 Evi2b ecotropic viral integration site 2B gene DOID:630 genetic disease ISO RGD:1347396 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033228 Evi2b ecotropic viral integration site 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1347396 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 9033234 Tp63 tumor protein p63 gene DOID:0050601 ADULT syndrome ISO RGD:1604844 D RGD:7240710 20180130 OMIM 9033234 Tp63 tumor protein p63 gene DOID:0050601 ADULT syndrome ISO RGD:1604844 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome PMID:11462173|PMID:11528512|PMID:11929852|PMID:16114047|PMID:16724007|PMID:16740912|PMID:17041931|PMID:17224651|PMID:17431922|PMID:17576681|PMID:18603493|PMID:18626511|PMID:19530185|PMID:19781362|PMID:20543567|PMID:21204238|PMID:21990121|PMID:22342398|PMID:23463580|PMID:24309930|PMID:25741868|PMID:27469932|PMID:28492532|PMID:34308104|PMID:8456838|PMID:8737655|PMID:9443880|PMID:9536098 9033234 Tp63 tumor protein p63 gene DOID:0060330 Rapp-Hodgkin syndrome ISO RGD:1604844 D RGD:7240710 20180130 OMIM 9033234 Tp63 tumor protein p63 gene DOID:0060330 Rapp-Hodgkin syndrome ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate PMID:10535733|PMID:10839977|PMID:10886756|PMID:11462173|PMID:12525544|PMID:12766194|PMID:12939657|PMID:15200513|PMID:15983386|PMID:16740912|PMID:17576681|PMID:17609671|PMID:18326838|PMID:18626511|PMID:18792980|PMID:19239083|PMID:19353588|PMID:19903181|PMID:20543567|PMID:21078104|PMID:21652629|PMID:22607287|PMID:23355676|PMID:23431748|PMID:23463580|PMID:23775923|PMID:24309930|PMID:25741868|PMID:28293528|PMID:28492532|PMID:29620206|PMID:29956718|PMID:9536098 9033234 Tp63 tumor protein p63 gene DOID:0060782 EEC syndrome ISO RGD:1604844 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome PMID:10535733|PMID:10839977|PMID:11462173|PMID:12161593|PMID:12445213|PMID:12525544|PMID:12939657|PMID:16691622|PMID:16740912|PMID:17041931|PMID:17431922|PMID:17576681|PMID:18326838|PMID:18626511|PMID:18792980|PMID:19353588|PMID:19663851|PMID:19903181|PMID:20180707|PMID:20543567|PMID:21078104|PMID:21204238|PMID:21211247|PMID:21652629|PMID:22607287|PMID:23355676|PMID:23431748|PMID:23463580|PMID:23775923|PMID:24309930|PMID:24734328|PMID:25741868|PMID:26380986|PMID:26882220|PMID:27028492|PMID:27798044|PMID:28293528|PMID:28492532|PMID:29130604|PMID:29620206|PMID:31050217|PMID:8737655|PMID:9443880|PMID:9536098 9033234 Tp63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ISO RGD:1604844 D RGD:7240710 20180130 OMIM 9033234 Tp63 tumor protein p63 gene DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ISO RGD:1604844 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 PMID:10535733|PMID:10839977|PMID:10936828|PMID:11462173|PMID:12161593|PMID:12445213|PMID:12525544|PMID:12838557|PMID:12939657|PMID:16691622|PMID:16740912|PMID:17041931|PMID:17431922|PMID:17576681|PMID:18326838|PMID:18626511|PMID:18792980|PMID:19353588|PMID:19663851|PMID:19903181|PMID:20180707|PMID:20543567|PMID:21078104|PMID:21204238|PMID:21211247|PMID:21652629|PMID:22607287|PMID:23355676|PMID:23431748|PMID:23463580|PMID:23775923|PMID:24309930|PMID:24734328|PMID:25741868|PMID:25983622|PMID:26380986|PMID:26882220|PMID:27028492|PMID:27798044|PMID:28293528|PMID:28492532|PMID:29130604|PMID:29620206|PMID:30655312|PMID:31050217|PMID:8737655|PMID:9028452|PMID:9443880|PMID:9536098 9033234 Tp63 tumor protein p63 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1604844 D RGD:9068941 20200609 RGD DNA:deletion, insertion, SNPs: :multiple PMID:23284286|REF_RGD_ID:11568641 9033234 Tp63 tumor protein p63 gene DOID:0080174 bladder exstrophy ISO RGD:736710 D RGD:9068941 20220825 MouseDO OMIM:600057 9033234 Tp63 tumor protein p63 gene DOID:0080401 orofacial cleft 8 ISO RGD:1604844 D RGD:7240710 20190315 OMIM 9033234 Tp63 tumor protein p63 gene DOID:0080401 orofacial cleft 8 ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofacial cleft 8 PMID:16740912|PMID:17576681|PMID:24309930|PMID:25741868|PMID:27798044|PMID:28492532|PMID:29500247|PMID:9536098 9033234 Tp63 tumor protein p63 gene DOID:0090020 split hand-foot malformation ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 9033234 Tp63 tumor protein p63 gene DOID:0090023 split hand-foot malformation 4 ISO RGD:1604844 D RGD:7240710 20180130 OMIM 9033234 Tp63 tumor protein p63 gene DOID:0090023 split hand-foot malformation 4 ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 4 | ClinVar Annotator: match by term: Split-hand/foot malformation 4 PMID:10535733|PMID:10839977|PMID:12161593|PMID:12525544|PMID:15736220|PMID:16740912|PMID:17224651|PMID:17576681|PMID:18626511|PMID:18792980|PMID:20543567|PMID:21078104|PMID:21211247|PMID:21652629|PMID:23355676|PMID:23463580|PMID:24309930|PMID:25741868|PMID:28293528|PMID:28492532|PMID:29620206|PMID:31050217|PMID:3366140|PMID:34008892|PMID:9536098 9033234 Tp63 tumor protein p63 gene DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ISO RGD:1604844 D RGD:7240710 20180130 OMIM 9033234 Tp63 tumor protein p63 gene DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome PMID:10886756|PMID:11159940|PMID:15200513|PMID:16740912|PMID:17576681|PMID:19239083|PMID:19353588|PMID:19793345|PMID:21615690|PMID:24309930|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9774969 9033234 Tp63 tumor protein p63 gene DOID:10283 prostate cancer ISO RGD:1604844 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383|PMID:28492532 9033234 Tp63 tumor protein p63 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1604844 D RGD:9068941 20200609 RGD PMID:19690775|REF_RGD_ID:2315430 9033234 Tp63 tumor protein p63 gene DOID:11514 fissured tongue ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Furrowed tongue PMID:25741868 9033234 Tp63 tumor protein p63 gene DOID:1324 lung cancer ISO RGD:1604844 D RGD:9068941 20220721 RGD DNA:SNP:intron:rs12696594 (human) PMID:29193083|REF_RGD_ID:153297750 9033234 Tp63 tumor protein p63 gene DOID:13938 amenorrhea ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9033234 Tp63 tumor protein p63 gene DOID:1749 squamous cell carcinoma ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21527555 9033234 Tp63 tumor protein p63 gene DOID:1793 pancreatic cancer ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 9033234 Tp63 tumor protein p63 gene DOID:2121 ectodermal dysplasia ISO RGD:1604844 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.K193E (577A>G) (human) PMID:22574117|REF_RGD_ID:11568633 9033234 Tp63 tumor protein p63 gene DOID:2256 osteochondrodysplasia ISO RGD:1604844 D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:25741868 9033234 Tp63 tumor protein p63 gene DOID:2671 transitional cell carcinoma ISO RGD:1604844 D RGD:9068941 20200609 RGD PMID:18955789|REF_RGD_ID:2315431 9033234 Tp63 tumor protein p63 gene DOID:299 adenocarcinoma ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20871597 9033234 Tp63 tumor protein p63 gene DOID:305 carcinoma ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23271742 9033234 Tp63 tumor protein p63 gene DOID:3168 squamous cell neoplasm ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23271742 9033234 Tp63 tumor protein p63 gene DOID:3463 breast disease ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 9033234 Tp63 tumor protein p63 gene DOID:3910 lung adenocarcinoma ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24880342 9033234 Tp63 tumor protein p63 gene DOID:5419 schizophrenia ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9033234 Tp63 tumor protein p63 gene DOID:5426 primary ovarian insufficiency ISO RGD:1604844 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868|PMID:30924587|PMID:35801529|PMID:36856110 9033234 Tp63 tumor protein p63 gene DOID:630 genetic disease ISO RGD:1604844 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10535733|PMID:10839977|PMID:11462173|PMID:12161593|PMID:12445213|PMID:12525544|PMID:19353588|PMID:20180707|PMID:21652629|PMID:23355676|PMID:24734328|PMID:25741868|PMID:26882220|PMID:27028492|PMID:28492532|PMID:29130604 9033234 Tp63 tumor protein p63 gene DOID:674 cleft palate ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 9033234 Tp63 tumor protein p63 gene DOID:8534 gastroesophageal reflux disease ISO RGD:736710 D RGD:9068941 20220825 MouseDO OMIM:109350 9033234 Tp63 tumor protein p63 gene DOID:8634 prostate carcinoma in situ ISO RGD:1604844 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17189982|REF_RGD_ID:2315434 9033234 Tp63 tumor protein p63 gene DOID:8634 prostate carcinoma in situ ISO RGD:736710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 9033234 Tp63 tumor protein p63 gene DOID:8634 prostate carcinoma in situ ISO RGD:736710 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17982114|REF_RGD_ID:2315433 9033234 Tp63 tumor protein p63 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:1604844 D RGD:9068941 20200609 RGD PMID:16804722|REF_RGD_ID:2315435 9033234 Tp63 tumor protein p63 gene DOID:9000067 Congenital Foot Deformities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 9033234 Tp63 tumor protein p63 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15875781 9033234 Tp63 tumor protein p63 gene DOID:9001890 Auditory Neuropathy ISO RGD:1604844 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy 9033234 Tp63 tumor protein p63 gene DOID:9001946 Skin Abnormalities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10227294 9033234 Tp63 tumor protein p63 gene DOID:9002170 Experimental Neoplasms ISO RGD:736710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25739959 9033234 Tp63 tumor protein p63 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17189982|REF_RGD_ID:2315434 9033234 Tp63 tumor protein p63 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22581815 9033234 Tp63 tumor protein p63 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736710 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:17982114|REF_RGD_ID:2315433 9033234 Tp63 tumor protein p63 gene DOID:9002385 Limb-Mammary Syndrome ISO RGD:1604844 D RGD:7240710 20180130 OMIM 9033234 Tp63 tumor protein p63 gene DOID:9002385 Limb-Mammary Syndrome ISO RGD:1604844 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Limb-mammary syndrome | ClinVar Annotator: match by term: Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies PMID:11462173|PMID:16740912|PMID:17576681|PMID:18627043|PMID:24309930|PMID:25741868|PMID:28492532|PMID:32067224|PMID:9536098|PMID:9774969 9033234 Tp63 tumor protein p63 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 9033234 Tp63 tumor protein p63 gene DOID:9002762 Ovarian Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21266360 9033234 Tp63 tumor protein p63 gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:1604844 D RGD:9068941 20200609 RGD mRNA:alternative form (human) PMID:17998283|REF_RGD_ID:2315432 9033234 Tp63 tumor protein p63 gene DOID:9004321 Corneal Injuries ISO RGD:736710 D RGD:9068941 20200609 RGD PMID:12167247|REF_RGD_ID:11568649 9033234 Tp63 tumor protein p63 gene DOID:9004371 Ankyloblepharon Filiforme Adnatum ISO RGD:1604844 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum PMID:25741868 9033234 Tp63 tumor protein p63 gene DOID:9004643 Urologic Neoplasms disease_progression ISO RGD:1604844 D RGD:9068941 20200609 RGD PMID:19402389|REF_RGD_ID:2315436 9033234 Tp63 tumor protein p63 gene DOID:9004795 Congenital Hand Deformities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11462173 9033234 Tp63 tumor protein p63 gene DOID:9005172 Lung Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20871597|PMID:21725308 9033234 Tp63 tumor protein p63 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620863 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:20041964|REF_RGD_ID:11568648 9033234 Tp63 tumor protein p63 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10227294 9033234 Tp63 tumor protein p63 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1604844 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.R204Q (c.611G>A), p.R227Q (c.680G>A), p.S271T (c.812G>C) (human) PMID:20410354|REF_RGD_ID:11568637 9033234 Tp63 tumor protein p63 gene DOID:9006424 Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 ISO RGD:1604844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 PMID:16740912|PMID:17576681|PMID:24309930|PMID:25741868|PMID:27798044|PMID:28492532|PMID:9536098 9033234 Tp63 tumor protein p63 gene DOID:9007274 Sweat Gland Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20740144 9033234 Tp63 tumor protein p63 gene DOID:9007285 Primary Ovarian Insufficiency 21 ISO RGD:1604844 D RGD:7240710 20230505 OMIM 9033234 Tp63 tumor protein p63 gene DOID:9007285 Primary Ovarian Insufficiency 21 ISO RGD:1604844 D RGD:8554872 20230627 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 21 PMID:25741868|PMID:30924587|PMID:35801529|PMID:36856110 9033234 Tp63 tumor protein p63 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 9033234 Tp63 tumor protein p63 gene DOID:9007653 Multiple Abnormalities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466819 9033234 Tp63 tumor protein p63 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15875781 9033234 Tp63 tumor protein p63 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1604844 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10227294 9033234 Tp63 tumor protein p63 gene DOID:9008939 Breast Neoplasms ISO RGD:736710 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25739959 9033234 Tp63 tumor protein p63 gene DOID:9296 cleft lip ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 9033234 Tp63 tumor protein p63 gene DOID:9884 muscular dystrophy ISO RGD:1604844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:25741868 9033273 Nacc2 NACC family member 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 9033273 Nacc2 NACC family member 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 9033273 Nacc2 NACC family member 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319559 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 9033273 Nacc2 NACC family member 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9033273 Nacc2 NACC family member 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9033273 Nacc2 NACC family member 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319559 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 9033273 Nacc2 NACC family member 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 9033273 Nacc2 NACC family member 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1319559 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9033273 Nacc2 NACC family member 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 9033273 Nacc2 NACC family member 2 gene DOID:3652 Leigh disease ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9033273 Nacc2 NACC family member 2 gene DOID:630 genetic disease ISO RGD:1319559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033273 Nacc2 NACC family member 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 9033298 Slirp SRA stem-loop interacting RNA binding protein gene DOID:630 genetic disease ISO RGD:1323602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033298 Slirp SRA stem-loop interacting RNA binding protein gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1323602 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy 9033306 Sema5a semaphorin 5A gene DOID:0060470 salt and pepper syndrome ISO RGD:1318544 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:25741868 9033306 Sema5a semaphorin 5A gene DOID:1059 intellectual disability ISO RGD:1318544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9033306 Sema5a semaphorin 5A gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1318544 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 9033306 Sema5a semaphorin 5A gene DOID:12849 autistic disorder ISO RGD:1318544 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17028446 9033306 Sema5a semaphorin 5A gene DOID:630 genetic disease ISO RGD:1318544 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033340 Mospd2 motile sperm domain containing 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1350806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 9033340 Mospd2 motile sperm domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1350806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9033340 Mospd2 motile sperm domain containing 2 gene DOID:13636 Fanconi anemia ISO RGD:1350806 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 9033340 Mospd2 motile sperm domain containing 2 gene DOID:630 genetic disease ISO RGD:1350806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033340 Mospd2 motile sperm domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350806 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9033362 Rhbdl2 rhomboid like 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1317987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9033362 Rhbdl2 rhomboid like 2 gene DOID:630 genetic disease ISO RGD:1317987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033386 Ccr10 C-C motif chemokine receptor 10 gene DOID:1824 status epilepticus ISO RGD:1606584 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17181556 9033386 Ccr10 C-C motif chemokine receptor 10 gene DOID:630 genetic disease ISO RGD:1606584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033393 Ccdc149 coiled-coil domain containing 149 gene DOID:630 genetic disease ISO RGD:1606995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033409 Atf7ip activating transcription factor 7 interacting protein gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1314412 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 9033409 Atf7ip activating transcription factor 7 interacting protein gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1314412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413735 9033409 Atf7ip activating transcription factor 7 interacting protein gene DOID:630 genetic disease ISO RGD:1314412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033409 Atf7ip activating transcription factor 7 interacting protein gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1314412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 9033409 Atf7ip activating transcription factor 7 interacting protein gene DOID:9004207 Testicular Neoplasms ISO RGD:1314412 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 9033445 Smco4 single-pass membrane protein with coiled-coil domains 4 gene DOID:1059 intellectual disability ISO RGD:1601987 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9033445 Smco4 single-pass membrane protein with coiled-coil domains 4 gene DOID:630 genetic disease ISO RGD:1601987 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033454 Hsd17b2 hydroxysteroid 17-beta dehydrogenase 2 gene DOID:289 endometriosis ISO RGD:1353008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815356|PMID:21232532 9033454 Hsd17b2 hydroxysteroid 17-beta dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1353008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033454 Hsd17b2 hydroxysteroid 17-beta dehydrogenase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 9033454 Hsd17b2 hydroxysteroid 17-beta dehydrogenase 2 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23200943 9033471 Slx4ip SLX4 interacting protein gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1352856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532|PMID:32733715 9033471 Slx4ip SLX4 interacting protein gene DOID:0110683 congenital myasthenic syndrome 18 ISO RGD:1352856 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA PMID:28492532|PMID:32733715 9033471 Slx4ip SLX4 interacting protein gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1352856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9033471 Slx4ip SLX4 interacting protein gene DOID:630 genetic disease ISO RGD:1352856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033471 Slx4ip SLX4 interacting protein gene DOID:9003698 ALAGILLE SYNDROME 1 ISO RGD:1352856 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:10213047|PMID:16575836|PMID:19058200|PMID:22382802|PMID:28492532|PMID:32733715 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:1348827 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1348827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:0050661 vitelliform macular dystrophy ISO RGD:1551510 D RGD:9068941 20220825 MouseDO OMIM:153700 | OMIM:153840 | OMIM:608161 | OMIM:616151 | OMIM:616152 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:0110371 retinitis pigmentosa 56 ISO RGD:1348827 D RGD:7240710 20180130 OMIM 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:0110371 retinitis pigmentosa 56 ISO RGD:1348827 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 56 PMID:20673862|PMID:24876279|PMID:25741868|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31736247|PMID:32531858 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:10283 prostate cancer ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1348827 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:20673862|PMID:22277662|PMID:24876279|PMID:24938718|PMID:25085631|PMID:25741868|PMID:25999674|PMID:26355662|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30054919|PMID:30718709|PMID:31264916|PMID:32531858|PMID:36909829|PMID:9536098 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:4448 macular degeneration ISO RGD:1348827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:20673862|PMID:24876279|PMID:28492532|PMID:30718709 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:630 genetic disease ISO RGD:1348827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23265383|PMID:28492532 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:8501 fundus dystrophy ISO RGD:1348827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17576681|PMID:20673862|PMID:24876279|PMID:25472526|PMID:25741868|PMID:26667666|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28644393|PMID:28771251|PMID:31264916|PMID:9536098 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:25741868|PMID:28492532 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:9006690 Vitelliform Macular Dystrophy 5 ISO RGD:1348827 D RGD:7240710 20180130 OMIM 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:9006690 Vitelliform Macular Dystrophy 5 ISO RGD:1348827 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 5 PMID:20673862|PMID:24876279|PMID:25085631|PMID:25741868|PMID:25999674|PMID:26355662|PMID:28492532|PMID:28644393|PMID:31264916 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:9007965 Vitelliform Macular Dystrophy 3 ISO RGD:1348827 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 3 9033490 Impg2 interphotoreceptor matrix proteoglycan 2 gene DOID:9008296 Eye Abnormalities ISO RGD:1348827 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:20673862|PMID:28041643 9033515 Prkcd protein kinase C delta gene DOID:0080000 muscular disease ISO RGD:67383 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:skeletal muscle PMID:9458880|REF_RGD_ID:1642535 9033515 Prkcd protein kinase C delta gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29341352 9033515 Prkcd protein kinase C delta gene DOID:0080855 Parkinsonism ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15681813 9033515 Prkcd protein kinase C delta gene DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ISO RGD:69026 D RGD:7240710 20180130 OMIM 9033515 Prkcd protein kinase C delta gene DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ISO RGD:69026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III PMID:11976687|PMID:16199547|PMID:17576681|PMID:23319571|PMID:23430113|PMID:24033266|PMID:25741868|PMID:26546672|PMID:28492532|PMID:30257684|PMID:34264265|PMID:9536098 9033515 Prkcd protein kinase C delta gene DOID:10762 portal hypertension ISO RGD:69026 D RGD:9068941 20200609 RGD mRNA:decreased expression:spleen, macrophage PMID:17659678|REF_RGD_ID:1642521 9033515 Prkcd protein kinase C delta gene DOID:10763 hypertension ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 9033515 Prkcd protein kinase C delta gene DOID:10763 hypertension ISO RGD:67383 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:10756122|REF_RGD_ID:1642534 9033515 Prkcd protein kinase C delta gene DOID:10763 hypertension ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23973649 9033515 Prkcd protein kinase C delta gene DOID:10763 hypertension ISO RGD:69026 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:10756122|REF_RGD_ID:1642534 9033515 Prkcd protein kinase C delta gene DOID:10763 hypertension ISO RGD:69027 D RGD:9068941 20200609 RGD protein:increased expression:heart, fibroblast PMID:10756122|REF_RGD_ID:1642534 9033515 Prkcd protein kinase C delta gene DOID:2018 hyperinsulinism ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:8826977|REF_RGD_ID:1625605 9033515 Prkcd protein kinase C delta gene DOID:2316 brain ischemia ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:17350602|REF_RGD_ID:1642524 9033515 Prkcd protein kinase C delta gene DOID:3602 toxic encephalopathy ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22512859 9033515 Prkcd protein kinase C delta gene DOID:397 restrictive cardiomyopathy ISO RGD:67383 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;protein:increased expression:heart ventricle PMID:9458880|REF_RGD_ID:1642535 9033515 Prkcd protein kinase C delta gene DOID:630 genetic disease ISO RGD:69026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9033515 Prkcd protein kinase C delta gene DOID:9000972 Fever ISO RGD:69026 D RGD:9068941 20200910 CTD CTD Direct Evidence: therapeutic PMID:31422080|PMID:32437895 9033515 Prkcd protein kinase C delta gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9033515 Prkcd protein kinase C delta gene DOID:9002245 Intestinal Neoplasms ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11983831 9033515 Prkcd protein kinase C delta gene DOID:9002395 Hypothermia ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30366073 9033515 Prkcd protein kinase C delta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:15532718|REF_RGD_ID:1581272 9033515 Prkcd protein kinase C delta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:67383 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:11576956|REF_RGD_ID:1642532 9033515 Prkcd protein kinase C delta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12198386 9033515 Prkcd protein kinase C delta gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:15532718|REF_RGD_ID:1581272 9033515 Prkcd protein kinase C delta gene DOID:9007096 Stroke ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:17350602|REF_RGD_ID:1642524 9033515 Prkcd protein kinase C delta gene DOID:9007102 Myocardial Ischemia ISO RGD:67383 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, altered phosphorylation:heart PMID:16924416|REF_RGD_ID:1642550 9033515 Prkcd protein kinase C delta gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:69026 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:30393195 9033515 Prkcd protein kinase C delta gene DOID:9007692 Insulin Resistance ISO RGD:67383 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:12217885|REF_RGD_ID:729667 9033515 Prkcd protein kinase C delta gene DOID:9007692 Insulin Resistance ISO RGD:69027 D RGD:9068941 20200609 RGD associated with Obesity;protein:increased activity:adipocyte PMID:15507533|REF_RGD_ID:1642527 9033515 Prkcd protein kinase C delta gene DOID:9007730 Burns ISO RGD:67383 D RGD:9068941 20200609 RGD protein:altered localization:cardiac muscle cell PMID:16990486|REF_RGD_ID:1642547 9033515 Prkcd protein kinase C delta gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:67383 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:17322024|REF_RGD_ID:1642542 9033515 Prkcd protein kinase C delta gene DOID:9452 steatotic liver disease ISO RGD:69026 D RGD:9068941 20200609 RGD PMID:17596878|REF_RGD_ID:1642523 9033515 Prkcd protein kinase C delta gene DOID:9970 obesity ISO RGD:67383 D RGD:9068941 20200609 RGD protein:decreased expression:heart ventricle PMID:11478406|REF_RGD_ID:1642533 9033515 Prkcd protein kinase C, delta gene DOID:9003936 Cardiomegaly ISO RGD:67383 D RGD:9068941 20200609 RGD PMID:15792354|REF_RGD_ID:1581271 9033538 Ap2a1 adaptor related protein complex 2 subunit alpha 1 gene DOID:0080459 developmental and epileptic encephalopathy 12 ISO RGD:1314769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:28492532 9033538 Ap2a1 adaptor related protein complex 2 subunit alpha 1 gene DOID:630 genetic disease ISO RGD:1314769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033570 Tmem267 transmembrane protein 267 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605053 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9033587 Rimbp2 RIMS binding protein 2 gene DOID:630 genetic disease ISO RGD:1606822 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033623 Cd4 CD4 molecule gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:735603 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9033623 Cd4 CD4 molecule gene DOID:0080600 COVID-19 severity ISO RGD:735603 D RGD:9068941 20200609 RGD protein:decreased expression:blood, T cell (human) PMID:32364527|REF_RGD_ID:27226699 9033623 Cd4 CD4 molecule gene DOID:0080600 COVID-19 severity ISO RGD:735603 D RGD:9068941 20200618 RGD protein:decreased expression:serum, lung, T cell (human) PMID:32427582|REF_RGD_ID:30309200 9033623 Cd4 CD4 molecule gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9033623 Cd4 CD4 molecule gene DOID:0111621 Temtamy syndrome ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9033623 Cd4 CD4 molecule gene DOID:0112277 immunodeficiency 79 ISO RGD:735603 D RGD:7240710 20210505 OMIM 9033623 Cd4 CD4 molecule gene DOID:0112277 immunodeficiency 79 ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 79 PMID:25741868|PMID:31781092|PMID:33471124 9033623 Cd4 CD4 molecule gene DOID:10303 sialadenitis treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:1828009|REF_RGD_ID:10059317 9033623 Cd4 CD4 molecule gene DOID:11723 Duchenne muscular dystrophy ISO RGD:735603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21641384 9033623 Cd4 CD4 molecule gene DOID:12361 Graves' disease ISO RGD:735603 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 9033623 Cd4 CD4 molecule gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:735603 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 9033623 Cd4 CD4 molecule gene DOID:2988 antiphospholipid syndrome treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:7914411|REF_RGD_ID:10058961 9033623 Cd4 CD4 molecule gene DOID:630 genetic disease ISO RGD:735603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033623 Cd4 CD4 molecule gene DOID:7188 autoimmune thyroiditis treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:1680568|REF_RGD_ID:10058966 9033623 Cd4 CD4 molecule gene DOID:813 septic arthritis treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:1730259|REF_RGD_ID:10058962 9033623 Cd4 CD4 molecule gene DOID:9000571 AIDS-Related Opportunistic Infections ISO RGD:735603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9546790 9033623 Cd4 CD4 molecule gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:15479897|REF_RGD_ID:10058957 9033623 Cd4 CD4 molecule gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:12010568|REF_RGD_ID:10058960 9033623 Cd4 CD4 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2306 D RGD:9068941 20200609 RGD protein:decreased expression:T lymphocyte: PMID:9138014|REF_RGD_ID:10058963 9033623 Cd4 CD4 molecule gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:3097071|REF_RGD_ID:10058968 9033623 Cd4 CD4 molecule gene DOID:9002955 Nerve Degeneration ISO RGD:735603 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9546790 9033623 Cd4 CD4 molecule gene DOID:9003223 Corneal Graft Rejection treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:1358194|REF_RGD_ID:10059315 9033623 Cd4 CD4 molecule gene DOID:9003796 T-Cell OKT4 Deficiency ISO RGD:735603 D RGD:7240710 20180405 OMIM 9033623 Cd4 CD4 molecule gene DOID:9003796 T-Cell OKT4 Deficiency ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Okt4 epitope deficiency PMID:1708753|PMID:1961196|PMID:25741868|PMID:33116287|PMID:7689618 9033623 Cd4 CD4 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:11081762|REF_RGD_ID:10058974 9033623 Cd4 CD4 molecule gene DOID:9004283 Transplant Rejection treatment ISO RGD:2306 D RGD:9068941 20200609 RGD PMID:1704648|REF_RGD_ID:10058956 9033623 Cd4 CD4 molecule gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:735603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9033623 Cd4 CD4 molecule gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:10309 D RGD:9068941 20200609 RGD PMID:7914411|REF_RGD_ID:10058961 9033649 Cav2 caveolin 2 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1343117 D RGD:9068941 20200609 RGD protein:increased expression:mucosa of tongue PMID:20558341|REF_RGD_ID:8661771 9033649 Cav2 caveolin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1343117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060 9033649 Cav2 caveolin 2 gene DOID:1067 open-angle glaucoma ISO RGD:1343117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835238 9033649 Cav2 caveolin 2 gene DOID:1070 primary open angle glaucoma ISO RGD:1343117 D RGD:9068941 20200609 RGD DNA:SNPs: :rs10278782, rs1052990 (human) PMID:24572674|REF_RGD_ID:8661770 9033649 Cav2 caveolin 2 gene DOID:13544 low tension glaucoma susceptibility ISO RGD:1343117 D RGD:9068941 20200609 RGD DNA:SNP: :rs1052990 (human) PMID:23743525|REF_RGD_ID:8661774 9033649 Cav2 caveolin 2 gene DOID:3070 high grade glioma ISO RGD:620348 D RGD:9068941 20200609 RGD PMID:22528460|REF_RGD_ID:6784517 9033649 Cav2 caveolin 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1343117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9033649 Cav2 caveolin 2 gene DOID:630 genetic disease ISO RGD:1343117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033649 Cav2 caveolin 2 gene DOID:7148 rheumatoid arthritis ISO RGD:1343117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 9033649 Cav2 caveolin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15583422 9033649 Cav2 caveolin 2 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:620348 D RGD:9068941 20200609 RGD PMID:17060028|REF_RGD_ID:1625364 9033649 Cav2 caveolin 2 gene DOID:9970 obesity ISO RGD:620348 D RGD:9068941 20200609 RGD PMID:22492718|REF_RGD_ID:6784520 9033653 LOC102005637 cytochrome c oxidase subunit 8C, mitochondrial gene DOID:0080054 achondrogenesis type IA ISO RGD:1344927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 9033653 LOC102005637 cytochrome c oxidase subunit 8C, mitochondrial gene DOID:0081063 DICER1 syndrome ISO RGD:1344927 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 9033653 LOC102005637 cytochrome c oxidase subunit 8C, mitochondrial gene DOID:4769 pleuropulmonary blastoma ISO RGD:1344927 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 9033653 LOC102005637 cytochrome c oxidase subunit 8C, mitochondrial gene DOID:630 genetic disease ISO RGD:1344927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060041 autism spectrum disorder ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:25741868|PMID:28492532 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:731784 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:731784 D RGD:7240710 20180130 OMIM 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:731784 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GRIN1-Related Disorder | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:10197535|PMID:12451122|PMID:16199547|PMID:16826528|PMID:17576681|PMID:19264732|PMID:20716669|PMID:21376300|PMID:22246434|PMID:22833210|PMID:24088041|PMID:25008524|PMID:25326635|PMID:25590979|PMID:25741868|PMID:25864721|PMID:26350515|PMID:26467025|PMID:26633545|PMID:26833960|PMID:27159321|PMID:27164704|PMID:28051072|PMID:28228639|PMID:28389307|PMID:28492532|PMID:28507080|PMID:29365063|PMID:29720203|PMID:30217972|PMID:30355546|PMID:30755392|PMID:30776697|PMID:31219694|PMID:31429998|PMID:31487502|PMID:32827528|PMID:33122756|PMID:33333793|PMID:34413877|PMID:34884460|PMID:35393335|PMID:35887114|PMID:9536098 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070387 developmental and epileptic encephalopathy 101 ISO RGD:731784 D RGD:7240710 20220406 OMIM 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0070387 developmental and epileptic encephalopathy 101 ISO RGD:731784 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101 PMID:25741868|PMID:27164704|PMID:28492532|PMID:31219694|PMID:34611970 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:731784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:19264732|PMID:27891178|PMID:28492532 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:731784 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:731784 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:25741868|PMID:28492532 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0081097 Rafiq syndrome ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:731784 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:10283 prostate cancer ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1059 intellectual disability ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10201407|PMID:25008524|PMID:25167861|PMID:25741868|PMID:27159321|PMID:27164704|PMID:28228639|PMID:28389307|PMID:28492532|PMID:30776697|PMID:33122756 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:10652 Alzheimer's disease ISO RGD:731784 D RGD:9068941 20200609 RGD PMID:24156266|REF_RGD_ID:13792688 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:11206 opioid abuse ISO RGD:731784 D RGD:9068941 20231221 RGD protein:increased expression:medial prefrontal cortex,lateral prefrontal cortex,orbitofrontal cortex PMID:29766293|REF_RGD_ID:401938658 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:11446 sciatic neuropathy ISO RGD:2736 D RGD:9068941 20200609 RGD PMID:26656067|REF_RGD_ID:13792690 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:12098 trigeminal neuralgia ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:12849 autistic disorder ISO RGD:731784 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:28492532 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:12849 autistic disorder ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1561 cognitive disorder ISO RGD:2736 D RGD:9068941 20200609 RGD associated with Fetal Hypoxia;mRNA, protein:decreased expression:hippocampus PMID:26656067|REF_RGD_ID:13792690 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1574 alcohol use disorder ISO RGD:731784 D RGD:9068941 20200609 RGD PMID:14573320|REF_RGD_ID:1642372 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1824 status epilepticus ISO RGD:2736 D RGD:9068941 20200609 RGD PMID:25457025|REF_RGD_ID:13792697 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:1826 epilepsy ISO RGD:731784 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:20716669|PMID:22246434|PMID:24088041|PMID:25741868|PMID:26633545|PMID:27164704|PMID:28228639|PMID:28492532|PMID:31429998|PMID:31487502|PMID:34884460 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:2468 psychotic disorder ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:29358611 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2736 D RGD:9068941 20200609 RGD PMID:26674869|REF_RGD_ID:11068571 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3526 cerebral infarction severity ISO RGD:731784 D RGD:9068941 20200609 RGD PMID:23723305|REF_RGD_ID:13792693 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3652 Leigh disease ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:3891 placental insufficiency ISO RGD:2736 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:hippocampus (rat) PMID:19144756|REF_RGD_ID:2326049 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:5419 schizophrenia ISO RGD:10685 D RGD:9068941 20220825 MouseDO OMIM:181500 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:630 genetic disease ISO RGD:731784 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10197535|PMID:10201407|PMID:12451122|PMID:15970596|PMID:17576681|PMID:20716669|PMID:22246434|PMID:22833210|PMID:24088041|PMID:25008524|PMID:25741868|PMID:25864721|PMID:26467025|PMID:26633545|PMID:27159321|PMID:27164704|PMID:28228639|PMID:28492532|PMID:29720203|PMID:30776697|PMID:31429998|PMID:31487502|PMID:32827528|PMID:34884460|PMID:9536098 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:8725 vascular dementia ISO RGD:731784 D RGD:9068941 20200609 RGD associated with Alzheimer's disease PMID:25261450|REF_RGD_ID:13792687 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9000641 Pain ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18155693 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9002211 Hyperalgesia ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2736 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:19761817|REF_RGD_ID:2325954 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9003816 Macrocephaly ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25326635|PMID:25741868|PMID:27164704 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005466 Language Development Disorders ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Expressive language delay PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16014726|PMID:20149346 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2736 D RGD:9068941 20230921 RGD PMID:23595285|REF_RGD_ID:401794586 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:731784 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9006205 Animal Disease Models ISO RGD:731784 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27093858 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9007956 Febrile Seizures ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Febrile seizures PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:731784 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27159321|PMID:28492532|PMID:30755392 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9008237 Hemimegalencephaly ISO RGD:731784 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemimegalencephaly PMID:25741868 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9009115 Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive ISO RGD:731784 D RGD:7240710 20190315 OMIM 9033659 Grin1 glutamate ionotropic receptor NMDA type subunit 1 gene DOID:9009115 Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive ISO RGD:731784 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive PMID:22833210|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27159321|PMID:27164704|PMID:28051072|PMID:28492532|PMID:30776697 9033706 Defb121 defensin beta 121 gene DOID:630 genetic disease ISO RGD:1344288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033717 Kcns3 potassium voltage-gated channel modifier subfamily S member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:731286 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9033717 Kcns3 potassium voltage-gated channel modifier subfamily S member 3 gene DOID:630 genetic disease ISO RGD:731286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033725 Cd160 CD160 molecule gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1342532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 9033725 Cd160 CD160 molecule gene DOID:1540 parathyroid carcinoma ISO RGD:1342532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9033725 Cd160 CD160 molecule gene DOID:5419 schizophrenia ISO RGD:1342532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9033725 Cd160 CD160 molecule gene DOID:630 genetic disease ISO RGD:1342532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033725 Cd160 CD160 molecule gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9033730 Rp1 RP1 axonemal microtubule associated gene DOID:0110390 retinitis pigmentosa 1 ISO RGD:1318061 D RGD:7240710 20180130 OMIM 9033730 Rp1 RP1 axonemal microtubule associated gene DOID:0110390 retinitis pigmentosa 1 ISO RGD:1318061 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: RP1-related retinal dystrophy | ClinVar Annotator: match by term: Retinitis pigmentosa 1 PMID:10391211|PMID:10391212|PMID:10401003|PMID:10465120|PMID:10845615|PMID:11095597|PMID:11317367|PMID:11527933|PMID:11694261|PMID:11960024|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:17576681|PMID:1783394|PMID:19933189|PMID:20664799|PMID:21147909|PMID:22317909|PMID:22917891|PMID:23077400|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25097241|PMID:25741868|PMID:26355662|PMID:26766544|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28076437|PMID:28418496|PMID:28492532|PMID:29425069|PMID:29641573|PMID:29785639|PMID:29847639|PMID:30027431|PMID:30029497|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30902645|PMID:30913292|PMID:31253780|PMID:31630094|PMID:32005865|PMID:32100970|PMID:32565670|PMID:32587456|PMID:33090715|PMID:33546218|PMID:33576794|PMID:33681214|PMID:33691693|PMID:33946315|PMID:8931712|PMID:9536098 9033730 Rp1 RP1 axonemal microtubule associated gene DOID:10584 retinitis pigmentosa ISO RGD:1318061 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10484783|PMID:10845615|PMID:11095597|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30913292|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:33546218|PMID:9536098 9033730 Rp1 RP1 axonemal microtubule associated gene DOID:10584 retinitis pigmentosa ISO RGD:1318061 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10484783|PMID:10845615|PMID:11095597|PMID:11139241|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23077400|PMID:23105016|PMID:23950152|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30902645|PMID:30913292|PMID:31079053|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:32037395|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33546218|PMID:33576794|PMID:33681214|PMID:34906470|PMID:9536098 9033730 Rp1 RP1 axonemal microtubule associated gene DOID:10584 retinitis pigmentosa ISO RGD:1318061 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10484783|PMID:10845615|PMID:11095597|PMID:11139241|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23077400|PMID:23105016|PMID:23950152|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30902645|PMID:30913292|PMID:31079053|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:32037395|PMID:32531858|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33546218|PMID:33576794|PMID:33681214|PMID:34906470|PMID:36909829|PMID:9536098 9033730 Rp1 RP1 axonemal microtubule associated gene DOID:3007 breast ductal carcinoma ISO RGD:1318061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 9033730 Rp1 RP1 axonemal microtubule associated gene DOID:630 genetic disease ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11527933|PMID:11960024|PMID:19933189|PMID:25883087|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082 9033730 Rp1 RP1 axonemal microtubule associated gene DOID:705 Leber hereditary optic neuropathy ISO RGD:1318061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:28492532 9033730 Rp1 RP1 axonemal microtubule associated gene DOID:8501 fundus dystrophy ISO RGD:1318061 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10391211|PMID:10391212|PMID:10401003|PMID:11095597|PMID:11139241|PMID:11527933|PMID:1783394|PMID:19933189|PMID:22334370|PMID:23991373|PMID:24339724|PMID:25494902|PMID:25692139|PMID:25698705|PMID:25741868|PMID:26355662|PMID:27160483|PMID:27208204|PMID:27391102|PMID:28041643|PMID:28076437|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29847639|PMID:30027431|PMID:30718709|PMID:30731082|PMID:30913292|PMID:31054281|PMID:31456290|PMID:32565670|PMID:32783370|PMID:33546218|PMID:33681214|PMID:34906470|PMID:36909829|PMID:8931712 9033730 Rp1 RP1 axonemal microtubule associated gene DOID:9000343 Vision Disorders ISO RGD:1318061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:18791550|PMID:25741868|PMID:28492532 9033730 Rp1 RP1 axonemal microtubule associated gene DOID:9000810 HYPERTRIGLYCERIDEMIA 1 ISO RGD:1318061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertriglyceridemia 1 PMID:12764676|PMID:20664799|PMID:25741868|PMID:28492532 9033762 Lrrc29 Leucine-rich repeat-containing protein 29 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1353942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9033762 Lrrc29 Leucine-rich repeat-containing protein 29 gene DOID:10316 pneumoconiosis ISO RGD:1353942 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 9033762 Lrrc29 Leucine-rich repeat-containing protein 29 gene DOID:630 genetic disease ISO RGD:1353942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033806 Tes testin LIM domain protein gene DOID:3068 glioblastoma ISO RGD:1603311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16909125 9033806 Tes testin LIM domain protein gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9033806 Tes testin LIM domain protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1603311 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9033806 Tes testin LIM domain protein gene DOID:630 genetic disease ISO RGD:1603311 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033806 Tes testin LIM domain protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1603311 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9033835 Rad51d RAD51 paralog D gene DOID:0070271 Lynch syndrome 1 ISO RGD:1315846 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:21822267|PMID:25741868|PMID:26261251|PMID:26467025|PMID:28492532|PMID:29371908|PMID:31159747|PMID:33471991|PMID:34284872 9033835 Rad51d RAD51 paralog D gene DOID:10534 stomach cancer ISO RGD:1315846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer PMID:10749867|PMID:14704354|PMID:19327148|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24240112|PMID:25445424|PMID:25452441|PMID:25741868|PMID:26046366|PMID:26057125|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26659639|PMID:26681312|PMID:27083178|PMID:27093186|PMID:27978560|PMID:28008555|PMID:28423363|PMID:28492532|PMID:28724667|PMID:29020732|PMID:29255180|PMID:29348823|PMID:29360550|PMID:29409816|PMID:29566657|PMID:30103829|PMID:30111881|PMID:30322717|PMID:31300551|PMID:31843900|PMID:32029870|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32566746|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33471991|PMID:33504652|PMID:33804961|PMID:33858678|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35171259|PMID:35186721|PMID:35273153|PMID:35710434|PMID:36095024|PMID:36185283|PMID:36544182|PMID:36988593|PMID:37024097 9033835 Rad51d RAD51 paralog D gene DOID:1520 colon carcinoma ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25741868|PMID:28492532 9033835 Rad51d RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32107557|PMID:32295079|PMID:32566746 9033835 Rad51d RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32107557|PMID:32295079|PMID:32566746|PMID:32885271 9033835 Rad51d RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32338768|PMID:32426482|PMID:32566746|PMID:32885271|PMID:33471991|PMID:34200360 9033835 Rad51d RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast cancer, protection against | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:34200360 9033835 Rad51d RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:34117267|PMID:34200360 9033835 Rad51d RAD51 paralog D gene DOID:1612 breast cancer ISO RGD:1315846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:29641532|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30306255|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32885271|PMID:32906206|PMID:33203166|PMID:33471991|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:34117267|PMID:34200360|PMID:34298626|PMID:34433815|PMID:34606182|PMID:34887416|PMID:34923718|PMID:35171259|PMID:35186721|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35980532|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36544182|PMID:36988593|PMID:37231433 9033835 Rad51d RAD51 paralog D gene DOID:3459 breast carcinoma ISO RGD:1315846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:21822267|PMID:25741868|PMID:26720727|PMID:26720728|PMID:28492532|PMID:28724667|PMID:30165555|PMID:32107557|PMID:36537080|PMID:36544182|PMID:36685941 9033835 Rad51d RAD51 paralog D gene DOID:4001 ovarian carcinoma ISO RGD:1315846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian carcinoma PMID:16199547|PMID:21822267|PMID:25741868|PMID:26720727|PMID:26720728|PMID:28492532|PMID:28724667|PMID:30165555|PMID:32107557|PMID:34200360|PMID:35261632|PMID:36537080|PMID:36544182|PMID:36685941 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27854218|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29625052|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:34200360|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34923718|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35565380|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31589614|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35980532|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36988593|PMID:37231433|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315846 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:5683 hereditary breast ovarian cancer syndrome susceptibility ISO RGD:1315846 D RGD:7240710 20190502 OMIM 9033835 Rad51d RAD51 paralog D gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10749867|PMID:14704354|PMID:16199547|PMID:19327148|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24240112|PMID:25445424|PMID:25452441|PMID:25741868|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26659639|PMID:26681312|PMID:26822949|PMID:27083178|PMID:27153395|PMID:27273131|PMID:28008555|PMID:28423363|PMID:28492532|PMID:28724667|PMID:28821472|PMID:28874143|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29348823|PMID:29409816|PMID:29566657|PMID:29758562|PMID:30111881|PMID:30165555|PMID:30927251|PMID:30980208|PMID:31300551|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32566746|PMID:32885271|PMID:32906206|PMID:33471991|PMID:33804961|PMID:33858678|PMID:34887416|PMID:34923718|PMID:35171259|PMID:35186721|PMID:35273153|PMID:35710434|PMID:36095024|PMID:36185283|PMID:36544182|PMID:36988593 9033835 Rad51d RAD51 paralog D gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9033835 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33901219|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35565380|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1315846 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33203166|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098 9033835 Rad51d RAD51 paralog D gene DOID:9008165 Chromosome Deletion ISO RGD:1315846 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27924006 9033835 Rad51d RAD51 paralog D gene DOID:9008952 Breast Cancer, Familial ISO RGD:1315846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16199547|PMID:21822267|PMID:25741868|PMID:28492532|PMID:32107557|PMID:34200360|PMID:35261632 9033835 Rad51d RAD51 paralog D gene DOID:9256 colorectal cancer ISO RGD:1315846 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:20665887|PMID:21822267|PMID:22986143|PMID:24130102|PMID:24240112|PMID:25445424|PMID:25741868|PMID:26057125|PMID:26467025|PMID:26659639|PMID:26681312|PMID:27083178|PMID:28423363|PMID:28492532|PMID:29409816|PMID:32295079|PMID:32359370|PMID:36988593 9033854 Tbc1d10b TBC1 domain family member 10B gene DOID:630 genetic disease ISO RGD:1607066 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033867 Tsn translin gene DOID:630 genetic disease ISO RGD:1351634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033877 Arhgap45 Rho GTPase activating protein 45 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1606818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 9033877 Arhgap45 Rho GTPase activating protein 45 gene DOID:10591 pre-eclampsia ISO RGD:1606818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26095815 9033877 Arhgap45 Rho GTPase activating protein 45 gene DOID:14566 disease of cellular proliferation ISO RGD:1606818 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19096014 9033877 Arhgap45 Rho GTPase activating protein 45 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1606818 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 9033877 Arhgap45 Rho GTPase activating protein 45 gene DOID:5339 cyclic hematopoiesis ISO RGD:1606818 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 9033877 Arhgap45 Rho GTPase activating protein 45 gene DOID:630 genetic disease ISO RGD:1606818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033925 Prim1 DNA primase subunit 1 gene DOID:0050569 Seckel syndrome ISO RGD:1348091 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microcephalic primordial dwarfism PMID:33060134 9033925 Prim1 DNA primase subunit 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:1348091 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9033925 Prim1 DNA primase subunit 1 gene DOID:630 genetic disease ISO RGD:1348091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033925 Prim1 DNA primase subunit 1 gene DOID:9004216 PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME ISO RGD:1348091 D RGD:7240710 20221221 OMIM 9033925 Prim1 DNA primase subunit 1 gene DOID:9004216 PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME ISO RGD:1348091 D RGD:8554872 20221220 ClinVar ClinVar Annotator: match by term: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome PMID:33060134 9033935 Tmem102 transmembrane protein 102 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1604962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9033935 Tmem102 transmembrane protein 102 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1604962 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 9033935 Tmem102 transmembrane protein 102 gene DOID:1059 intellectual disability ISO RGD:1604962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9033935 Tmem102 transmembrane protein 102 gene DOID:12177 common variable immunodeficiency ISO RGD:1604962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9033935 Tmem102 transmembrane protein 102 gene DOID:2729 dyskeratosis congenita ISO RGD:1604962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9033935 Tmem102 transmembrane protein 102 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1604962 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 9033935 Tmem102 transmembrane protein 102 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1604962 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 9033935 Tmem102 transmembrane protein 102 gene DOID:630 genetic disease ISO RGD:1604962 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033946 Urb1 URB1 ribosome biogenesis homolog gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 9033946 Urb1 URB1 ribosome biogenesis homolog gene DOID:0060898 Parkinson's disease 20 ISO RGD:1353651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 9033946 Urb1 URB1 ribosome biogenesis homolog gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1353651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 9033946 Urb1 URB1 ribosome biogenesis homolog gene DOID:630 genetic disease ISO RGD:1353651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9033946 Urb1 URB1 ribosome biogenesis homolog gene DOID:9005698 ZTTK Syndrome ISO RGD:1353651 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 9033946 Urb1 URB1 ribosome biogenesis homolog gene DOID:9006725 Glucocorticoid Deficiency 2 ISO RGD:1353651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency 2 PMID:28492532 9034007 Tmem170b transmembrane protein 170B gene DOID:630 genetic disease ISO RGD:2293893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034013 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:0050444 infantile Refsum disease ISO RGD:733615 D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 9034013 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:733615 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 9034013 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:733615 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus 9034013 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:733615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9034013 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:630 genetic disease ISO RGD:733615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034013 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:905 Zellweger syndrome ISO RGD:733615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11890679|PMID:20647552|PMID:20681997|PMID:28492532|PMID:9837814 9034013 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733615 D RGD:7240710 20180130 OMIM 9034013 Mapk8ip1 mitogen-activated protein kinase 8 interacting protein 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:733615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10700186 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:0112297 spondylometaphyseal dysplasia corner fracture type ISO RGD:731594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia - Sutcliffe type PMID:25741868|PMID:28492532 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:1059 intellectual disability ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:11372 megacolon ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:11476 osteoporosis ISO RGD:731594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:1184 nephrotic syndrome ISO RGD:731594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:1432 blindness ISO RGD:731594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15114530 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:4448 macular degeneration ISO RGD:731594 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:15114530|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32557644 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:630 genetic disease ISO RGD:731594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:653 purine-pyrimidine metabolic disorder susceptibility ISO RGD:731594 D RGD:9068941 20200609 RGD DNA:frameshift,point mutation:A1277G;AICA-RIBOSIDURIA,OMIM:608688 PMID:15114530|REF_RGD_ID:1599355 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:7148 rheumatoid arthritis ISO RGD:731594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19193698 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:784 chronic kidney disease ISO RGD:731594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9002457 Experimental Arthritis ISO RGD:70879 D RGD:9068941 20200609 RGD PMID:17408934|REF_RGD_ID:5144054 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005133 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency ISO RGD:731594 D RGD:7240710 20180130 OMIM 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005133 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AICA-ribosiduria due to ATIC deficiency | ClinVar Annotator: match by term: ATIC DEFICIENCY PMID:15114530|PMID:25741868|PMID:28492532|PMID:28991257|PMID:32557644 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9005563 Glomerulopathy with Giant Fibrillar Deposits ISO RGD:731594 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 PMID:25741868|PMID:28492532 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:731594 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16947783 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:9008952 Breast Cancer, Familial ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 9034033 Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene DOID:936 brain disease ISO RGD:731594 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868 9034052 Actr6 actin related protein 6 gene DOID:630 genetic disease ISO RGD:1312146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034067 LOC102020573 chromosome unknown open reading frame, human C3orf22 gene DOID:630 genetic disease ISO RGD:1603560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034067 LOC102020573 chromosome unknown open reading frame, human C3orf22 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 9034067 LOC102020573 chromosome unknown open reading frame, human C3orf22 gene DOID:9270 alkaptonuria ISO RGD:1603560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9034077 Adamts6 ADAM metallopeptidase with thrombospondin type 1 motif 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1317007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9034077 Adamts6 ADAM metallopeptidase with thrombospondin type 1 motif 6 gene DOID:630 genetic disease ISO RGD:1317007 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034077 Adamts6 ADAM metallopeptidase with thrombospondin type 1 motif 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317007 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9034106 Hdx highly divergent homeobox gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9034106 Hdx highly divergent homeobox gene DOID:12849 autistic disorder ISO RGD:1348226 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9034106 Hdx highly divergent homeobox gene DOID:630 genetic disease ISO RGD:1348226 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034120 Dbndd1 dysbindin domain containing 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1604304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 9034120 Dbndd1 dysbindin domain containing 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1604304 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 9034120 Dbndd1 dysbindin domain containing 1 gene DOID:13636 Fanconi anemia ISO RGD:1604304 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 9034120 Dbndd1 dysbindin domain containing 1 gene DOID:630 genetic disease ISO RGD:1604304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0050439 Usher syndrome ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:28041643 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0060237 Warburg micro syndrome ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome PMID:28492532 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0070233 Loeys-Dietz syndrome 4 ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:22772368|PMID:28544325 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0110717 Warburg micro syndrome 2 ISO RGD:1604372 D RGD:7240710 20180130 OMIM 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0110717 Warburg micro syndrome 2 ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 2 PMID:16199547|PMID:20967465|PMID:23420520|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29300443|PMID:32740904|PMID:32870266 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1604372 D RGD:7240710 20180130 OMIM 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:0111586 Martsolf syndrome 1 ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:16532399|PMID:23420520|PMID:24891604|PMID:25741868|PMID:28492532|PMID:29300443|PMID:32740904 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:10629 microphthalmia ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microphthalmos PMID:25741868 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:10907 microcephaly ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:13938 amenorrhea ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:25741868|PMID:28492532|PMID:32870266 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:630 genetic disease ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32870266 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:83 cataract ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cataract PMID:25741868 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9006949 Martsolf Syndrome ISO RGD:1604372 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Martsolf syndrome PMID:16199547|PMID:16532399|PMID:17576681|PMID:18414213|PMID:23420520|PMID:24033266|PMID:24891604|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29300443|PMID:29419336|PMID:32740904|PMID:32870266|PMID:9536098 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1604372 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:32870266 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tracheoesophageal fistula PMID:32641753 9034137 Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604372 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9034186 Insig2 insulin induced gene 2 gene DOID:630 genetic disease ISO RGD:735428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034186 Insig2 insulin induced gene 2 gene DOID:783 end stage renal disease ISO RGD:631417 D RGD:9068941 20230914 RGD protein:decreased expression:kidney (rat) PMID:19878707|REF_RGD_ID:2326081 9034186 Insig2 insulin induced gene 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9034186 Insig2 insulin induced gene 2 gene DOID:9004657 Weight Gain ISO RGD:735428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18195716|PMID:20373477 9034186 Insig2 insulin induced gene 2 gene DOID:9006599 Hypertriglyceridemia severity ISO RGD:735429 D RGD:9068941 20200609 RGD associated with Obesity PMID:15096598|REF_RGD_ID:2308857 9034186 Insig2 insulin induced gene 2 gene DOID:9452 steatotic liver disease severity ISO RGD:735429 D RGD:9068941 20200609 RGD associated with Obesity PMID:15096598|REF_RGD_ID:2308857 9034210 Rsph14 radial spoke head 14 homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1313725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 9034210 Rsph14 radial spoke head 14 homolog gene DOID:5419 schizophrenia ISO RGD:1313725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9034210 Rsph14 radial spoke head 14 homolog gene DOID:630 genetic disease ISO RGD:1313725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034222 Esr1 estrogen receptor 1 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30165855 9034222 Esr1 estrogen receptor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia 9034222 Esr1 estrogen receptor 1 gene DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 9034222 Esr1 estrogen receptor 1 gene DOID:0080001 bone disease ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28505433 9034222 Esr1 estrogen receptor 1 gene DOID:0080855 Parkinsonism ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:21420980|REF_RGD_ID:8553241 9034222 Esr1 estrogen receptor 1 gene DOID:0080979 arthrogryposis multiplex congenita-3 ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type PMID:25741868|PMID:27782104 9034222 Esr1 estrogen receptor 1 gene DOID:0110264 cataract 33 ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:12082175|REF_RGD_ID:734947 9034222 Esr1 estrogen receptor 1 gene DOID:0111618 autosomal recessive spinocerebellar ataxia 8 ISO RGD:736559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:27782104|PMID:28492532 9034222 Esr1 estrogen receptor 1 gene DOID:10247 pleurisy ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:17035596|REF_RGD_ID:4892303 9034222 Esr1 estrogen receptor 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:736559 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland PMID:17908481|REF_RGD_ID:2290023 9034222 Esr1 estrogen receptor 1 gene DOID:10283 prostate cancer severity ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17922863|REF_RGD_ID:2290022 9034222 Esr1 estrogen receptor 1 gene DOID:10283 prostate cancer susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat PMID:18006911|REF_RGD_ID:2290020 9034222 Esr1 estrogen receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17192785 9034222 Esr1 estrogen receptor 1 gene DOID:10652 Alzheimer's disease ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:10558867|REF_RGD_ID:1358612 9034222 Esr1 estrogen receptor 1 gene DOID:11054 urinary bladder cancer ISO RGD:736559 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:16712894|PMID:35764155 9034222 Esr1 estrogen receptor 1 gene DOID:11132 prostatic hypertrophy treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24872436|REF_RGD_ID:10045676 9034222 Esr1 estrogen receptor 1 gene DOID:11383 cryptorchidism ISO RGD:2581 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis PMID:20951417|REF_RGD_ID:8553220 9034222 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:21421090|REF_RGD_ID:10045841 9034222 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:10773580|REF_RGD_ID:10045834 9034222 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:intron:g.938C>T (human) PMID:16530497|REF_RGD_ID:10045825 9034222 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:exon:2014G>A (human) PMID:17953702|REF_RGD_ID:10045839 9034222 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:397T>C (human) PMID:23137636|REF_RGD_ID:10045665 9034222 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs2234693, rs9340799) (human) PMID:20116372|REF_RGD_ID:10045826 9034222 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:intron:IVS5+225(CA)18-25 (human) PMID:17896124|REF_RGD_ID:10045828 9034222 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:5' utr:g.-1174(TA)10-27 (human) PMID:17953702|REF_RGD_ID:10045839 9034222 Esr1 estrogen receptor 1 gene DOID:11476 osteoporosis treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:16955786|REF_RGD_ID:8694129 9034222 Esr1 estrogen receptor 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 9034222 Esr1 estrogen receptor 1 gene DOID:12306 vitiligo no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:exon PMID:15381239|REF_RGD_ID:8552976 9034222 Esr1 estrogen receptor 1 gene DOID:12306 vitiligo susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:15381239|REF_RGD_ID:8552976 9034222 Esr1 estrogen receptor 1 gene DOID:12336 male infertility ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20833731|PMID:23213263 9034222 Esr1 estrogen receptor 1 gene DOID:1240 leukemia ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18808365 9034222 Esr1 estrogen receptor 1 gene DOID:127 leiomyoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18701604|PMID:31468104 9034222 Esr1 estrogen receptor 1 gene DOID:14228 oligospermia ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20833731 9034222 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer ISO RGD:736559 D RGD:7240710 20240313 OMIM 9034222 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:amplification PMID:19320640|REF_RGD_ID:8552981 9034222 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP: :908A>G (p.K303R) (human) PMID:15034868|REF_RGD_ID:8553053 9034222 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2234693, rs9340799 (human) PMID:20846920|REF_RGD_ID:8552980 9034222 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736559 D RGD:9068941 20240314 RGD DNA:SNP:exon:2014G>A (human) PMID:19636371|REF_RGD_ID:8552982 9034222 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer susceptibility ISO RGD:736559 D RGD:9068941 20240314 RGD DNA:SNPs, haplotypes:promoter, exon PMID:15604249|REF_RGD_ID:8552978 9034222 Esr1 estrogen receptor 1 gene DOID:1612 breast cancer treatment ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:19011961|REF_RGD_ID:8552979 9034222 Esr1 estrogen receptor 1 gene DOID:1909 melanoma severity ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:19153340|REF_RGD_ID:8553064 9034222 Esr1 estrogen receptor 1 gene DOID:1936 atherosclerosis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11894143 9034222 Esr1 estrogen receptor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:11160157|REF_RGD_ID:8553067 9034222 Esr1 estrogen receptor 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24548484|PMID:25098259|REF_RGD_ID:10045843|REF_RGD_ID:10045845 9034222 Esr1 estrogen receptor 1 gene DOID:2349 arteriosclerosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:17903303|REF_RGD_ID:4892301 9034222 Esr1 estrogen receptor 1 gene DOID:2394 ovarian cancer ISO RGD:2581 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental;protein:decreased expression:ovary, breast PMID:16891317|REF_RGD_ID:2290042 9034222 Esr1 estrogen receptor 1 gene DOID:2696 Leydig cell tumor ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:17656605|REF_RGD_ID:2290041 9034222 Esr1 estrogen receptor 1 gene DOID:289 endometriosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:16500359|REF_RGD_ID:1580337 9034222 Esr1 estrogen receptor 1 gene DOID:2921 glomerulonephritis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 9034222 Esr1 estrogen receptor 1 gene DOID:299 adenocarcinoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:20458558 9034222 Esr1 estrogen receptor 1 gene DOID:305 carcinoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090|PMID:17173897 9034222 Esr1 estrogen receptor 1 gene DOID:3069 malignant astrocytoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24680642 9034222 Esr1 estrogen receptor 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:18285421|REF_RGD_ID:4892300 9034222 Esr1 estrogen receptor 1 gene DOID:3393 coronary artery disease ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20559769|PMID:9396482 9034222 Esr1 estrogen receptor 1 gene DOID:3393 coronary artery disease ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:16159931|REF_RGD_ID:1580335 9034222 Esr1 estrogen receptor 1 gene DOID:3459 breast carcinoma disease_progression ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation PMID:15355923|REF_RGD_ID:8552986 9034222 Esr1 estrogen receptor 1 gene DOID:3459 breast carcinoma severity ISO RGD:736559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:breast PMID:18234277|REF_RGD_ID:2290017 9034222 Esr1 estrogen receptor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:hypermethylation: :lung PMID:19506903|REF_RGD_ID:4892255 9034222 Esr1 estrogen receptor 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron: PMID:19032828|REF_RGD_ID:8553058 9034222 Esr1 estrogen receptor 1 gene DOID:4448 macular degeneration ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human) PMID:17325140|REF_RGD_ID:10045664 9034222 Esr1 estrogen receptor 1 gene DOID:5223 infertility ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24506075|REF_RGD_ID:8552987 9034222 Esr1 estrogen receptor 1 gene DOID:5844 myocardial infarction ISO RGD:736559 D RGD:7240710 20240313 OMIM 9034222 Esr1 estrogen receptor 1 gene DOID:5844 myocardial infarction ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myocardial infarction, susceptibility to PMID:11894143|PMID:11919305|PMID:14600184 9034222 Esr1 estrogen receptor 1 gene DOID:630 genetic disease ISO RGD:736559 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034222 Esr1 estrogen receptor 1 gene DOID:6364 migraine ISO RGD:736559 D RGD:7240710 20240313 OMIM 9034222 Esr1 estrogen receptor 1 gene DOID:6364 migraine ISO RGD:736559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to PMID:15133719|PMID:25741868 9034222 Esr1 estrogen receptor 1 gene DOID:6432 pulmonary hypertension ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:20081107|REF_RGD_ID:4892253 9034222 Esr1 estrogen receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144|PMID:28284560 9034222 Esr1 estrogen receptor 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:736559 D RGD:9068941 20210115 CTD CTD Direct Evidence: marker/mechanism PMID:30673822 9034222 Esr1 estrogen receptor 1 gene DOID:769 neuroblastoma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27366082 9034222 Esr1 estrogen receptor 1 gene DOID:8029 sporadic breast cancer ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:17932744|REF_RGD_ID:2290043 9034222 Esr1 estrogen receptor 1 gene DOID:8029 sporadic breast cancer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:promoter PMID:17904846|REF_RGD_ID:8552977 9034222 Esr1 estrogen receptor 1 gene DOID:8283 peritonitis treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:23063870|REF_RGD_ID:8553243 9034222 Esr1 estrogen receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs2234693) (human) PMID:20417295|REF_RGD_ID:10045662 9034222 Esr1 estrogen receptor 1 gene DOID:8398 osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:introns: (rs2234693, rs9340799) (human) PMID:19884274|REF_RGD_ID:10045830 9034222 Esr1 estrogen receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:22025007|REF_RGD_ID:8553211 9034222 Esr1 estrogen receptor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16220300 9034222 Esr1 estrogen receptor 1 gene DOID:8646 substance-induced psychosis ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19386276 9034222 Esr1 estrogen receptor 1 gene DOID:8719 in situ carcinoma ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17924141|REF_RGD_ID:2290024 9034222 Esr1 estrogen receptor 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:25105782|REF_RGD_ID:10045844 9034222 Esr1 estrogen receptor 1 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:736559 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35764155 9034222 Esr1 estrogen receptor 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736559 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:15637090|PMID:17173897|PMID:34606849 9034222 Esr1 estrogen receptor 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:2581 D RGD:9068941 20200609 RGD protein:increased expression:dentate gyrus PMID:23465388|REF_RGD_ID:8553242 9034222 Esr1 estrogen receptor 1 gene DOID:9000555 Vulvar Lichen Sclerosus ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:18076706|REF_RGD_ID:2293866 9034222 Esr1 estrogen receptor 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:16522460|REF_RGD_ID:4892312 9034222 Esr1 estrogen receptor 1 gene DOID:9000918 Disease Progression ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20104649 9034222 Esr1 estrogen receptor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:736559 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:20104649|PMID:35044086 9034222 Esr1 estrogen receptor 1 gene DOID:9001004 Chronic Periodontitis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15324358|REF_RGD_ID:10045837 9034222 Esr1 estrogen receptor 1 gene DOID:9001004 Chronic Periodontitis no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:15324358|REF_RGD_ID:10045837 9034222 Esr1 estrogen receptor 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:736559 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35044086 9034222 Esr1 estrogen receptor 1 gene DOID:9001708 Hemorrhagic Shock severity ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:20195535|REF_RGD_ID:4892252 9034222 Esr1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:10551 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:glomerulus PMID:15550505|REF_RGD_ID:2314023 9034222 Esr1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:2581 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney PMID:16464734|REF_RGD_ID:2314020 9034222 Esr1 estrogen receptor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:736559 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:snps:introns: multiple(human) PMID:18305958|REF_RGD_ID:2314005 9034222 Esr1 estrogen receptor 1 gene DOID:9002211 Hyperalgesia ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:19285805|REF_RGD_ID:8553066 9034222 Esr1 estrogen receptor 1 gene DOID:9002239 Estrogen Resistance ISO RGD:736559 D RGD:7240710 20240313 OMIM 9034222 Esr1 estrogen receptor 1 gene DOID:9002239 Estrogen Resistance ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Estrogen resistance syndrome PMID:23841731|PMID:27754803|PMID:8090165|PMID:8961262 9034222 Esr1 estrogen receptor 1 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18505767 9034222 Esr1 estrogen receptor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16220300|PMID:17176215 9034222 Esr1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:cds:c.1782G>A (rs2228480) (human) PMID:20128071|REF_RGD_ID:10045835 9034222 Esr1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:intron: (rs2234693, rs9340799) (human) PMID:24772413|REF_RGD_ID:10045829 9034222 Esr1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphisms, haplotype:intron, exon PMID:15380041|REF_RGD_ID:10045840 9034222 Esr1 estrogen receptor 1 gene DOID:9002331 Knee Osteoarthritis ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:repeat:promoter:-1174(TA)9-25 (human) PMID:16098017|REF_RGD_ID:10043199 9034222 Esr1 estrogen receptor 1 gene DOID:9002407 Spinal Fractures no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:mutation, SNP:intron, exon: , 274G>C (human) PMID:12183765|REF_RGD_ID:10045833 9034222 Esr1 estrogen receptor 1 gene DOID:9002407 Spinal Fractures susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>G (human) PMID:12915669|REF_RGD_ID:10045836 9034222 Esr1 estrogen receptor 1 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:10551 D RGD:9068941 20200609 RGD associated with Osteoporosis PMID:20112355|REF_RGD_ID:10045851 9034222 Esr1 estrogen receptor 1 gene DOID:9002589 Bone Fractures ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs9340799 (human) PMID:15523071|REF_RGD_ID:10045827 9034222 Esr1 estrogen receptor 1 gene DOID:9002589 Bone Fractures no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP, repeat:promoter:rs2234693 (human) PMID:15523071|REF_RGD_ID:10045827 9034222 Esr1 estrogen receptor 1 gene DOID:9002739 Female Urogenital Diseases ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 9034222 Esr1 estrogen receptor 1 gene DOID:9003566 Mesothelioma ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15639718|PMID:17659810 9034222 Esr1 estrogen receptor 1 gene DOID:9003566 Mesothelioma ISO RGD:736559 D RGD:9068941 20200609 RGD PMID:17659810|REF_RGD_ID:4892302 9034222 Esr1 estrogen receptor 1 gene DOID:9003919 Urination Disorders treatment ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:24259512|REF_RGD_ID:10045674 9034222 Esr1 estrogen receptor 1 gene DOID:9004265 Endometrioid Carcinomas severity ISO RGD:736559 D RGD:9068941 20200609 RGD protein:increased phosphorylation PMID:14559803|REF_RGD_ID:4105451 9034222 Esr1 estrogen receptor 1 gene DOID:9004272 Varicose Ulcer no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism:(TA) dinucleotide repeat PMID:16153823|REF_RGD_ID:1626508 9034222 Esr1 estrogen receptor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736559 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:26990689|PMID:27366082|PMID:35044086 9034222 Esr1 estrogen receptor 1 gene DOID:9004914 Postmenopausal Osteoporosis susceptibility ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human) PMID:16972020|REF_RGD_ID:10045838 9034222 Esr1 estrogen receptor 1 gene DOID:9004914 Postmenopausal Osteoporosis treatment ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1T>C (human) PMID:16604479|REF_RGD_ID:8158082 9034222 Esr1 estrogen receptor 1 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20556506 9034222 Esr1 estrogen receptor 1 gene DOID:9005040 Hand Osteoarthritis no_association ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs:exons: (rs2077647, rs1801132) (human) PMID:19884274|REF_RGD_ID:10045830 9034222 Esr1 estrogen receptor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11872642|PMID:17077188 9034222 Esr1 estrogen receptor 1 gene DOID:9005228 Musculoskeletal Pain ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25218601 9034222 Esr1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:11759285|REF_RGD_ID:8553057 9034222 Esr1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:2581 D RGD:9068941 20200609 RGD protein:increased expression:epithelial cell, nucleus PMID:15637090|REF_RGD_ID:8552983 9034222 Esr1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15637090 9034222 Esr1 estrogen receptor 1 gene DOID:9005233 Experimental Mammary Neoplasms susceptibility ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:18055862|REF_RGD_ID:2290019 9034222 Esr1 estrogen receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2581 D RGD:9068941 20200609 RGD protein:decreased expression:penis PMID:15596216|REF_RGD_ID:2306775 9034222 Esr1 estrogen receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2581 D RGD:9068941 20200609 RGD protein:decreased expression:vagina,nucleus PMID:16734901|REF_RGD_ID:2314014 9034222 Esr1 estrogen receptor 1 gene DOID:9006041 Osteoarthritis, Hip ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNP:intron:g.-397T>C (human) PMID:17419075|REF_RGD_ID:10045661 9034222 Esr1 estrogen receptor 1 gene DOID:9006205 Animal Disease Models ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 9034222 Esr1 estrogen receptor 1 gene DOID:9006421 Feminization ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22275727 9034222 Esr1 estrogen receptor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:25085540|REF_RGD_ID:10045675 9034222 Esr1 estrogen receptor 1 gene DOID:9007181 Osteoporotic Fractures ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:introns: (rs9397448, rs2234693, rs1643821) (human) PMID:22807154|REF_RGD_ID:10045832 9034222 Esr1 estrogen receptor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16712894 9034222 Esr1 estrogen receptor 1 gene DOID:9007456 Female Infertility ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23710174 9034222 Esr1 estrogen receptor 1 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24014025|PMID:27366082 9034222 Esr1 estrogen receptor 1 gene DOID:9007715 Endometrial Neoplasms ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24185510 9034222 Esr1 estrogen receptor 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:18314151|REF_RGD_ID:4892299 9034222 Esr1 estrogen receptor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736559 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast neoplasm PMID:24185510|PMID:24185512|PMID:24398047 9034222 Esr1 estrogen receptor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:736559 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10945602|PMID:15133719|PMID:16280033|PMID:17545528|PMID:17553133|PMID:23236557|PMID:25741868 9034222 Esr1 estrogen receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:17097034|REF_RGD_ID:2314012 9034222 Esr1 estrogen receptor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736559 D RGD:9068941 20200609 RGD DNA:snps:introns: rs3020314, rs985694, rs1884051(human) PMID:18854778|REF_RGD_ID:2314003 9034222 Esr1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:10551 D RGD:9068941 20200609 RGD PMID:11095962|REF_RGD_ID:8553065 9034222 Esr1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:2581 D RGD:9068941 20200609 RGD PMID:22230815|REF_RGD_ID:8553199 9034222 Esr1 estrogen receptor 1 gene DOID:9970 obesity ISO RGD:736559 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20667977 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:0060058 lymphoma ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11980663 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24141364 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma disease_progression ISO RGD:1345718 D RGD:9068941 20200609 RGD DNA:mutations: : PMID:22699455|REF_RGD_ID:11075072 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:1345718 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:0081155 common variable immunodeficiency 13 ISO RGD:1345718 D RGD:7240710 20190315 OMIM 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:0081155 common variable immunodeficiency 13 ISO RGD:1345718 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: IKZF1-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 PMID:21548011|PMID:25741868|PMID:26981933|PMID:27939403|PMID:27993330|PMID:28096536|PMID:28492532|PMID:28927821|PMID:29889099|PMID:30940614|PMID:31057532|PMID:31089937|PMID:34329649 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:3307 teratoma ISO RGD:1345718 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:3910 lung adenocarcinoma ameliorates ISO RGD:1345718 D RGD:9068941 20220204 RGD mRNA:increased expression:lung (human) PMID:33738286|REF_RGD_ID:151347632 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:3910 lung adenocarcinoma exacerbates ISO RGD:1345718 D RGD:9068941 20211231 RGD protein:increased expression:lung (human) PMID:32787735|REF_RGD_ID:150540324 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1345718 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:25741868|PMID:26981933|PMID:27939403|PMID:28096536|PMID:28492532|PMID:29889099|PMID:32319000|PMID:32499645|PMID:32531373 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1345718 D RGD:9068941 20211231 RGD protein:increased expression:liver (human) PMID:25301737|REF_RGD_ID:150540326 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:8577 ulcerative colitis ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345718 D RGD:9068941 20211231 RGD associated with colorectal cancer;DNA:polymorphisms: PMID:31320627|REF_RGD_ID:150540328 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:1345718 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia-like PMID:28492532|PMID:29681510|PMID:34162668 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:1345718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838193 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:hypermethylation:promoter (human) PMID:29780264|PMID:31010820|REF_RGD_ID:150540322|REF_RGD_ID:150540329 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:hypermethylation: (human) PMID:25928810|PMID:29796114|PMID:33478584|REF_RGD_ID:150540320|REF_RGD_ID:150540323|REF_RGD_ID:150540327 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:hypermethylation:promoter (human) PMID:21737484|REF_RGD_ID:150540325 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1345718 D RGD:9068941 20220204 RGD DNA:hypermethylation: (human) PMID:27726312|PMID:29992492|PMID:31909823|PMID:32958500|REF_RGD_ID:150540317|REF_RGD_ID:150540319|REF_RGD_ID:150540321|REF_RGD_ID:151347633 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer severity ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:polymorphisms: (human) PMID:31320627|REF_RGD_ID:150540328 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1345718 D RGD:9068941 20211231 RGD DNA:SNP:3' utr: (rs6964823) (human) PMID:33723131|REF_RGD_ID:150540318 9034251 Ikzf1 IKAROS family zinc finger 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1345718 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2 PMID:25741868|PMID:27993330|PMID:28492532 9034290 Agrp agouti related neuropeptide gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:736333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9034290 Agrp agouti related neuropeptide gene DOID:630 genetic disease ISO RGD:736333 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034290 Agrp agouti related neuropeptide gene DOID:9002916 Hyperphagia ISO RGD:2068 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:hypothalamus PMID:11179781|REF_RGD_ID:2314004 9034290 Agrp agouti related neuropeptide gene DOID:9005768 Thinness ISO RGD:736333 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leanness, inherited PMID:11602360|PMID:12213871|PMID:15054840 9034290 Agrp agouti related neuropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:2068 D RGD:9068941 20200609 RGD mRNA:decreased expression:hypothalamus PMID:18001323|REF_RGD_ID:2311538 9034290 Agrp agouti related neuropeptide gene DOID:9352 type 2 diabetes mellitus ISO RGD:736333 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-38C>T (human) PMID:11554767|REF_RGD_ID:2314000 9034290 Agrp agouti related neuropeptide gene DOID:9970 obesity ISO RGD:736333 D RGD:7240710 20180130 OMIM 9034290 Agrp agouti related neuropeptide gene DOID:9970 obesity ISO RGD:736333 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, late-onset PMID:11602360|PMID:12213871|PMID:15054840|PMID:25741868 9034303 Ppcdc phosphopantothenoylcysteine decarboxylase gene DOID:2717 Bloom syndrome ISO RGD:1605355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9034303 Ppcdc phosphopantothenoylcysteine decarboxylase gene DOID:5419 schizophrenia ISO RGD:1605355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9034303 Ppcdc phosphopantothenoylcysteine decarboxylase gene DOID:630 genetic disease ISO RGD:1605355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034303 Ppcdc phosphopantothenoylcysteine decarboxylase gene DOID:9256 colorectal cancer ISO RGD:1605355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9034323 Usp36 ubiquitin specific peptidase 36 gene DOID:630 genetic disease ISO RGD:1320548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9034354 Krt9 keratin 9 gene DOID:0080223 epidermolytic palmoplantar keratoderma ISO RGD:736715 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma PMID:12072061|PMID:12192490|PMID:12838553|PMID:1385292|PMID:152116|PMID:17074468|PMID:19106041|PMID:20964665|PMID:22262370|PMID:24862219|PMID:2531643|PMID:25741868|PMID:28492532|PMID:2960371|PMID:30666268|PMID:33914963|PMID:7511021|PMID:7512862|PMID:7516304|PMID:7523529|PMID:7532199|PMID:8647270|PMID:9204965|PMID:9856842 9034354 Krt9 keratin 9 gene DOID:10283 prostate cancer ISO RGD:736715 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9034354 Krt9 keratin 9 gene DOID:3390 palmoplantar keratosis ISO RGD:736715 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma PMID:12838553|PMID:1385292|PMID:17074468|PMID:19106041|PMID:22262370|PMID:2531643|PMID:25741868|PMID:28492532|PMID:7512862|PMID:7516304|PMID:7523529 9034354 Krt9 keratin 9 gene DOID:630 genetic disease ISO RGD:736715 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12838553|PMID:22262370|PMID:24862219|PMID:25741868|PMID:28492532|PMID:30666268|PMID:33914963|PMID:7512862|PMID:8647270|PMID:9856842 9034354 Krt9 keratin 9 gene DOID:9002223 Diffuse Palmoplantar Keratoderma ISO RGD:736715 D RGD:9068941 20200609 RGD EPPK, OMIM:144200 PMID:7512862|REF_RGD_ID:1600065 9034354 Krt9 keratin 9 gene DOID:9007353 Epidermolytic Palmoplantar Keratoderma 1 ISO RGD:736715 D RGD:7240710 20230614 OMIM 9034366 Myh13 myosin heavy chain 13 gene DOID:0080719 congenital myopathy 6 ISO RGD:737050 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 9034366 Myh13 myosin heavy chain 13 gene DOID:630 genetic disease ISO RGD:737050 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034366 Myh13 myosin heavy chain 13 gene DOID:8398 osteoarthritis ISO RGD:737050 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:0080600 COVID-19 ISO RGD:731028 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:10763 hypertension no_association ISO RGD:731028 D RGD:9068941 20200609 RGD DNA:SNP:exon, intron:no association with SNPs in codon 240 in exon 8, codon 398 in exon 12 or intron 6 PMID:15304560|REF_RGD_ID:1580969 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:10763 hypertension susceptibility ISO RGD:731028 D RGD:9068941 20200609 RGD DNA:snps:exon, intron: (human) PMID:16221215|REF_RGD_ID:1580968 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:224 transient cerebral ischemia ISO RGD:3668 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus, pyramidal cell PMID:15046873|REF_RGD_ID:1580967 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:2999 granulosa cell tumor ISO RGD:731028 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:305 carcinoma ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:3114 serous cystadenocarcinoma ISO RGD:731028 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:3603 mucinous cystadenocarcinoma ISO RGD:731028 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:4676 uremia ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18768591 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:630 genetic disease ISO RGD:731028 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:9119 acute myeloid leukemia ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:9538 multiple myeloma ISO RGD:731028 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 9034410 Sgk1 serum/glucocorticoid regulated kinase 1 gene DOID:9743 diabetic neuropathy ISO RGD:731028 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16696316 9034434 Smad2 SMAD family member 2 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1347299 D RGD:9068941 20220624 RGD mRNA:increased expression:blood plasma (human) PMID:31874165|REF_RGD_ID:152995482 9034434 Smad2 SMAD family member 2 gene DOID:0060356 Vici syndrome ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 9034434 Smad2 SMAD family member 2 gene DOID:0111243 acromicric dysplasia ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18677313 9034434 Smad2 SMAD family member 2 gene DOID:1059 intellectual disability ISO RGD:1347299 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9034434 Smad2 SMAD family member 2 gene DOID:11054 urinary bladder cancer ISO RGD:736957 D RGD:9068941 20200609 RGD PMID:15548366|REF_RGD_ID:2299964 9034434 Smad2 SMAD family member 2 gene DOID:1380 endometrial cancer ISO RGD:1347299 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:12883738|REF_RGD_ID:2299970 9034434 Smad2 SMAD family member 2 gene DOID:1793 pancreatic cancer ISO RGD:1347299 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas (human) PMID:10505717|REF_RGD_ID:14394490 9034434 Smad2 SMAD family member 2 gene DOID:219 colon cancer treatment ISO RGD:3031 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 9034434 Smad2 SMAD family member 2 gene DOID:229 female reproductive system disease ISO RGD:736957 D RGD:9068941 20200609 RGD Endosalpingiosis PMID:16141389|REF_RGD_ID:2299962 9034434 Smad2 SMAD family member 2 gene DOID:2394 ovarian cancer ISO RGD:1347299 D RGD:9068941 20200609 RGD DNA:deletion, polymorphisms PMID:10969799|REF_RGD_ID:2299974 9034434 Smad2 SMAD family member 2 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1347299 D RGD:9068941 20200609 RGD PMID:11809701|REF_RGD_ID:2300007 9034434 Smad2 SMAD family member 2 gene DOID:3498 pancreatic ductal adenocarcinoma severity ISO RGD:1347299 D RGD:9068941 20200609 RGD PMID:26908446|REF_RGD_ID:14394493 9034434 Smad2 SMAD family member 2 gene DOID:3883 Lynch syndrome ISO RGD:1347299 D RGD:9068941 20200609 RGD PMID:10819637|REF_RGD_ID:1599900 9034434 Smad2 SMAD family member 2 gene DOID:4001 ovarian carcinoma ISO RGD:1347299 D RGD:9068941 20200609 RGD PMID:14985451|REF_RGD_ID:2299967 9034434 Smad2 SMAD family member 2 gene DOID:4297 scimitar syndrome ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anomalous pulmonary venous return 9034434 Smad2 SMAD family member 2 gene DOID:4362 cervical cancer ISO RGD:1347299 D RGD:9068941 20200609 RGD DNA, mRNA:insertion, deletion, decreased expression:uterine cervix PMID:12894231|REF_RGD_ID:2299968 9034434 Smad2 SMAD family member 2 gene DOID:4450 renal cell carcinoma severity ISO RGD:1347299 D RGD:9068941 20200609 RGD protein:decreased expression:kidney PMID:11332076|REF_RGD_ID:2299973 9034434 Smad2 SMAD family member 2 gene DOID:5844 myocardial infarction ameliorates ISO RGD:736957 D RGD:9068941 20230921 RGD PMID:33409963|REF_RGD_ID:401794430 9034434 Smad2 SMAD family member 2 gene DOID:5844 myocardial infarction treatment ISO RGD:3031 D RGD:9068941 20200609 RGD PMID:11087260|REF_RGD_ID:12903276 9034434 Smad2 SMAD family member 2 gene DOID:630 genetic disease ISO RGD:1347299 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30157302 9034434 Smad2 SMAD family member 2 gene DOID:684 hepatocellular carcinoma ISO RGD:3031 D RGD:9068941 20200609 RGD PMID:18971187|REF_RGD_ID:12880056 9034434 Smad2 SMAD family member 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16570350 9034434 Smad2 SMAD family member 2 gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3031 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal nucleus PMID:17166487|REF_RGD_ID:1643227 9034434 Smad2 SMAD family member 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 9034434 Smad2 SMAD family member 2 gene DOID:9004582 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY ISO RGD:1347299 D RGD:7240710 20220209 OMIM 9034434 Smad2 SMAD family member 2 gene DOID:9004582 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY ISO RGD:1347299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 8, with or without heterotaxy PMID:23665959|PMID:30157302 9034434 Smad2 SMAD family member 2 gene DOID:9006321 LOEYS-DIETZ SYNDROME 6 ISO RGD:1347299 D RGD:7240710 20220209 OMIM 9034434 Smad2 SMAD family member 2 gene DOID:9006321 LOEYS-DIETZ SYNDROME 6 ISO RGD:1347299 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 6 | ClinVar Annotator: match by term: SMAD2-related condition PMID:15210694|PMID:25741868|PMID:26247899|PMID:28283438|PMID:28492532|PMID:29392890|PMID:29967133|PMID:30157302|PMID:34655614 9034434 Smad2 SMAD family member 2 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 9034434 Smad2 SMAD family member 2 gene DOID:9007174 Ventricular Remodeling ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16635409 9034434 Smad2 SMAD family member 2 gene DOID:9007174 Ventricular Remodeling ameliorates ISO RGD:736957 D RGD:9068941 20230406 RGD associated with myocardial infarction PMID:25726944|REF_RGD_ID:11252030 9034434 Smad2 SMAD family member 2 gene DOID:9008510 Chronic Hepatitis ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 9034434 Smad2 SMAD family member 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15183723|PMID:9655392 9034454 Alx4 ALX homeobox 4 gene DOID:0060285 parietal foramina ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cranium bifidum occultum 9034454 Alx4 ALX homeobox 4 gene DOID:0081044 frontonasal dysplasia ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9034454 Alx4 ALX homeobox 4 gene DOID:0081046 frontonasal dysplasia 2 ISO RGD:1320963 D RGD:7240710 20240313 OMIM 9034454 Alx4 ALX homeobox 4 gene DOID:0081046 frontonasal dysplasia 2 ISO RGD:1320963 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Frontonasal dysplasia 2 PMID:19692347|PMID:22140057|PMID:24668755|PMID:25741868|PMID:28492532 9034454 Alx4 ALX homeobox 4 gene DOID:1059 intellectual disability ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9034454 Alx4 ALX homeobox 4 gene DOID:1148 polydactyly ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9847249 9034454 Alx4 ALX homeobox 4 gene DOID:1324 lung cancer ISO RGD:1320963 D RGD:9068941 20221117 RGD DNA:hypermethylation:CpG_island: PMID:24037716|REF_RGD_ID:153344522 9034454 Alx4 ALX homeobox 4 gene DOID:2340 craniosynostosis ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9034454 Alx4 ALX homeobox 4 gene DOID:3717 gastric adenocarcinoma severity ISO RGD:1320963 D RGD:9068941 20220825 RGD PMID:27895854|REF_RGD_ID:153344544 9034454 Alx4 ALX homeobox 4 gene DOID:3910 lung adenocarcinoma disease_progression ISO RGD:1320963 D RGD:9068941 20221117 RGD PMID:18978557|REF_RGD_ID:153350135 9034454 Alx4 ALX homeobox 4 gene DOID:4926 bronchiolo-alveolar adenocarcinoma ameliorates ISO RGD:1320963 D RGD:9068941 20221117 RGD PMID:24037716|REF_RGD_ID:153344522 9034454 Alx4 ALX homeobox 4 gene DOID:4992 optic nerve glioma ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic nerve glioma PMID:25741868 9034454 Alx4 ALX homeobox 4 gene DOID:630 genetic disease ISO RGD:1320963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19692347|PMID:25741868|PMID:28492532 9034454 Alx4 ALX homeobox 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1310201 D RGD:9068941 20220818 RGD mRNA, protein:decreased expression:liver PMID:31132711|REF_RGD_ID:153323330 9034454 Alx4 ALX homeobox 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1320963 D RGD:9068941 20220818 RGD mRNA, protein:decreased expression:liver PMID:28081728|REF_RGD_ID:153323329 9034454 Alx4 ALX homeobox 4 gene DOID:684 hepatocellular carcinoma ameliorates ISO RGD:1320963 D RGD:9068941 20220818 RGD PMID:31132711|REF_RGD_ID:153323330 9034454 Alx4 ALX homeobox 4 gene DOID:9001441 Adenomatous Polyps severity ISO RGD:1320963 D RGD:9068941 20220825 RGD DNA:altered methylation:plasma: PMID:20140221|REF_RGD_ID:153344541 9034454 Alx4 ALX homeobox 4 gene DOID:9005172 Lung Neoplasms ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24037716 9034454 Alx4 ALX homeobox 4 gene DOID:9005530 Craniosynostosis 5 ISO RGD:1320963 D RGD:7240710 20240313 OMIM 9034454 Alx4 ALX homeobox 4 gene DOID:9005530 Craniosynostosis 5 ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 5, susceptibility to PMID:22829454 9034454 Alx4 ALX homeobox 4 gene DOID:9008131 Parietal Foramina 2 ISO RGD:1320963 D RGD:7240710 20240313 OMIM 9034454 Alx4 ALX homeobox 4 gene DOID:9008131 Parietal Foramina 2 ISO RGD:1320963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parietal foramina 2 PMID:11106354|PMID:11137991|PMID:16319823|PMID:22829454|PMID:24764194|PMID:25741868|PMID:28492532 9034454 Alx4 ALX homeobox 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1320963 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9847249 9034454 Alx4 ALX homeobox 4 gene DOID:9256 colorectal cancer ISO RGD:1320963 D RGD:9068941 20220819 RGD DNA:hypermethylation:serum: PMID:17101318|PMID:26918234|REF_RGD_ID:153323327|REF_RGD_ID:153344524 9034461 Armc8 armadillo repeat containing 8 gene DOID:630 genetic disease ISO RGD:1601876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034505 Gdap2 ganglioside induced differentiation associated protein 2 gene DOID:0111616 autosomal recessive spinocerebellar ataxia 27 ISO RGD:1314445 D RGD:7240710 20190424 OMIM 9034505 Gdap2 ganglioside induced differentiation associated protein 2 gene DOID:0111616 autosomal recessive spinocerebellar ataxia 27 ISO RGD:1314445 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27 PMID:25741868|PMID:30084953 9034505 Gdap2 ganglioside induced differentiation associated protein 2 gene DOID:630 genetic disease ISO RGD:1314445 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034538 Insm2 INSM transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1315853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034538 Insm2 INSM transcriptional repressor 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315853 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:0050700 cardiomyopathy ISO RGD:1349063 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:0060238 Van Maldergem syndrome ISO RGD:1349063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:0080585 Van Maldergem syndrome 1 ISO RGD:1349063 D RGD:7240710 20190327 OMIM 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:0080585 Van Maldergem syndrome 1 ISO RGD:1349063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DCHS1-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 1 PMID:22473091|PMID:24056717|PMID:25741868|PMID:28492532 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:1909 melanoma ISO RGD:1349063 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:2661 myoepithelioma ISO RGD:1349063 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:4977 lymphedema ISO RGD:1349063 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lymphedema PMID:25741868|PMID:28492532 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:630 genetic disease ISO RGD:1349063 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26258302|PMID:28492532|PMID:28518168|PMID:30755392|PMID:32461654 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:9002205 Periventricular Nodular Heterotopia 2 ISO RGD:1349063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24056717 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:9002971 Myxomatous Mitral Valve Prolapse 2 ISO RGD:1349063 D RGD:7240710 20180130 OMIM 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:9002971 Myxomatous Mitral Valve Prolapse 2 ISO RGD:1349063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DCHS1-related disorder | ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 2 PMID:12707861|PMID:25741868|PMID:26258302|PMID:28492532 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1349063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:30755392 9034568 Dchs1 dachsous cadherin-related 1 gene DOID:988 mitral valve prolapse ISO RGD:1616539 D RGD:9068941 20220825 MouseDO OMIM:157700 | OMIM:607829 | OMIM:610840 9034594 Snip1 Smad nuclear interacting protein 1 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9034594 Snip1 Smad nuclear interacting protein 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1605941 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 9034594 Snip1 Smad nuclear interacting protein 1 gene DOID:630 genetic disease ISO RGD:1605941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22279524|PMID:28492532|PMID:34570759 9034594 Snip1 Smad nuclear interacting protein 1 gene DOID:9001528 ARTERIAL DISSECTION ISO RGD:1605941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Predisposition to dissection PMID:25741868|PMID:28492532 9034594 Snip1 Smad nuclear interacting protein 1 gene DOID:9006612 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism ISO RGD:1605941 D RGD:7240710 20180130 OMIM 9034594 Snip1 Smad nuclear interacting protein 1 gene DOID:9006612 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism ISO RGD:1605941 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Psychomotor retardation, epilepsy, and craniofacial dysmorphism PMID:22279524|PMID:25741868|PMID:28492532|PMID:29358611|PMID:34570759 9034602 Tspyl4 TSPY like 4 gene DOID:0060163 body dysmorphic disorder ISO RGD:1315389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 9034602 Tspyl4 TSPY like 4 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1315389 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 9034602 Tspyl4 TSPY like 4 gene DOID:1909 melanoma ISO RGD:1315389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 9034602 Tspyl4 TSPY like 4 gene DOID:630 genetic disease ISO RGD:1315389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034611 Epn3 epsin 3 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1315016 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 9034611 Epn3 epsin 3 gene DOID:630 genetic disease ISO RGD:1315016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034611 Epn3 epsin 3 gene DOID:9775 diastolic heart failure ISO RGD:1315016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 9034625 Recql4 RecQ like helicase 4 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1317096 D RGD:7240710 20180130 OMIM 9034625 Recql4 RecQ like helicase 4 gene DOID:0050654 Baller-Gerold syndrome ISO RGD:1317096 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome | ClinVar Annotator: match by term: Craniosynostosis with radial defects PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15221963|PMID:15897384|PMID:15964893|PMID:16199547|PMID:16630167|PMID:17250521|PMID:17250975|PMID:17372760|PMID:17576681|PMID:18504617|PMID:18616953|PMID:18716613|PMID:19291770|PMID:20113479|PMID:20503338|PMID:21143835|PMID:21418107|PMID:22730300|PMID:22885111|PMID:23238538|PMID:23899764|PMID:24033266|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25326635|PMID:25640679|PMID:25741868|PMID:25966250|PMID:26491355|PMID:26556299|PMID:27247962|PMID:27352193|PMID:27425854|PMID:27498913|PMID:27854218|PMID:28039508|PMID:28076423|PMID:28202063|PMID:28358413|PMID:28486640|PMID:28492532|PMID:28653661|PMID:28724667|PMID:28767289|PMID:28825054|PMID:28873162|PMID:29168297|PMID:29367366|PMID:29462647|PMID:29478780|PMID:29506128|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30007837|PMID:30086788|PMID:30262796|PMID:30306255|PMID:30651579|PMID:30680959|PMID:30724488|PMID:30995915|PMID:31604778|PMID:31829210|PMID:31874108|PMID:32139749|PMID:32191290|PMID:32482547|PMID:32659497|PMID:32659967|PMID:32729250|PMID:33046774|PMID:33077847|PMID:33144682|PMID:33294214|PMID:33606809|PMID:33674555|PMID:33999380|PMID:34006472|PMID:34155702|PMID:34308366|PMID:34869606|PMID:35171259|PMID:9536098|PMID:9878247 9034625 Recql4 RecQ like helicase 4 gene DOID:0050774 rapadilino syndrome ISO RGD:1317096 D RGD:7240710 20180130 OMIM 9034625 Recql4 RecQ like helicase 4 gene DOID:0050774 rapadilino syndrome ISO RGD:1317096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15897384|PMID:15964893|PMID:16199547|PMID:17250975|PMID:18504617|PMID:18716613|PMID:19291770|PMID:20113479|PMID:22885111|PMID:23238538|PMID:24033266|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25741868|PMID:25966250|PMID:27247962|PMID:28486640|PMID:28492532|PMID:29367366|PMID:29478780|PMID:29625052|PMID:31829210|PMID:32482547|PMID:33046774|PMID:33077847|PMID:33294214|PMID:9878247 9034625 Recql4 RecQ like helicase 4 gene DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 ISO RGD:1317096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15897384|PMID:15964893|PMID:18716613|PMID:20113479|PMID:25741868|PMID:28492532|PMID:29367366|PMID:31829210 9034625 Recql4 RecQ like helicase 4 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1317096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 9034625 Recql4 RecQ like helicase 4 gene DOID:1612 breast cancer ISO RGD:1317096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 9034625 Recql4 RecQ like helicase 4 gene DOID:1907 malignant fibrous histiocytoma ISO RGD:1317096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant fibrous histiocytoma PMID:12734318|PMID:12952869|PMID:25741868|PMID:28492532|PMID:31604778 9034625 Recql4 RecQ like helicase 4 gene DOID:2394 ovarian cancer ISO RGD:1317096 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:15221963|PMID:24728327|PMID:25741868|PMID:26491355|PMID:28202063|PMID:28492532 9034625 Recql4 RecQ like helicase 4 gene DOID:2732 Rothmund-Thomson syndrome ISO RGD:1317096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15897384|PMID:15964893|PMID:17250521|PMID:18716613|PMID:20113479|PMID:21418107|PMID:24033266|PMID:24635570|PMID:25120469|PMID:25326635|PMID:25741868|PMID:27247962|PMID:28492532|PMID:29367366|PMID:29642415|PMID:31829210 9034625 Recql4 RecQ like helicase 4 gene DOID:3374 peripheral osteosarcoma ISO RGD:1317096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: High grade surface osteosarcoma PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15897384|PMID:15964893|PMID:18716613|PMID:20113479|PMID:25741868|PMID:28492532|PMID:29367366|PMID:31829210 9034625 Recql4 RecQ like helicase 4 gene DOID:4621 holoprosencephaly ISO RGD:1317096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 9034625 Recql4 RecQ like helicase 4 gene DOID:630 genetic disease ISO RGD:1317096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15897384|PMID:15964893|PMID:18716613|PMID:20113479|PMID:21418107|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:27247962|PMID:28492532|PMID:28767289|PMID:29367366|PMID:29641532|PMID:29642415|PMID:30007837|PMID:30306255|PMID:30651579|PMID:30680959|PMID:31829210|PMID:32139749|PMID:32659497 9034625 Recql4 RecQ like helicase 4 gene DOID:687 hepatoblastoma ISO RGD:1317096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532 9034625 Recql4 RecQ like helicase 4 gene DOID:9005992 Rothmund-Thomson Syndrome Type 2 ISO RGD:1317096 D RGD:7240710 20191023 OMIM 9034625 Recql4 RecQ like helicase 4 gene DOID:9005992 Rothmund-Thomson Syndrome Type 2 ISO RGD:1317096 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:10319867|PMID:10678659|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15897384|PMID:15964893|PMID:16199547|PMID:17576681|PMID:18504617|PMID:18616953|PMID:18716613|PMID:19291770|PMID:20113479|PMID:20503338|PMID:21143835|PMID:21418107|PMID:23238538|PMID:24033266|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:25966250|PMID:27247962|PMID:28039508|PMID:28486640|PMID:28492532|PMID:28767289|PMID:28873162|PMID:29168297|PMID:29367366|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30007837|PMID:30086788|PMID:30306255|PMID:30651579|PMID:30680959|PMID:30724488|PMID:31604778|PMID:31829210|PMID:32139749|PMID:32482547|PMID:32659497|PMID:33046774|PMID:33077847|PMID:33294214|PMID:34308366|PMID:9536098|PMID:9878247 9034625 Recql4 RecQ like helicase 4 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1317096 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10319867|PMID:12734318|PMID:12838562|PMID:12952869|PMID:15221963|PMID:15964893|PMID:16199547|PMID:17576681|PMID:18716613|PMID:19291770|PMID:21418107|PMID:24518840|PMID:24635570|PMID:24728327|PMID:25120469|PMID:25741868|PMID:26491355|PMID:27247962|PMID:27425854|PMID:28202063|PMID:28486640|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28873162|PMID:29367366|PMID:29478780|PMID:29625052|PMID:29641532|PMID:29642415|PMID:30007837|PMID:30306255|PMID:30680959|PMID:30724488|PMID:31829210|PMID:31874108|PMID:32139749|PMID:32191290|PMID:32482547|PMID:32659497|PMID:32659967|PMID:32729250|PMID:33077847|PMID:33294214|PMID:33606809|PMID:33674555|PMID:33999380|PMID:34869606|PMID:9536098|PMID:9878247 9034625 Recql4 RecQ like helicase 4 gene DOID:9008840 DNA Repair-Deficiency Disorders ISO RGD:1317097 D RGD:9068941 20200609 RGD PMID:25859855|REF_RGD_ID:13207506 9034625 Recql4 RecQ like helicase 4 gene DOID:9538 multiple myeloma ISO RGD:1317096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma PMID:28492532 9034662 Plcd1 phospholipase C delta 1 gene DOID:0050451 Brugada syndrome ISO RGD:733331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 9034662 Plcd1 phospholipase C delta 1 gene DOID:0080081 nonsyndromic congenital nail disorder 3 ISO RGD:733331 D RGD:7240710 20180130 OMIM 9034662 Plcd1 phospholipase C delta 1 gene DOID:0080081 nonsyndromic congenital nail disorder 3 ISO RGD:733331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 3 PMID:21665001|PMID:25741868 9034662 Plcd1 phospholipase C delta 1 gene DOID:10652 Alzheimer's disease ISO RGD:733331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early onset PMID:25741868 9034662 Plcd1 phospholipase C delta 1 gene DOID:10763 hypertension ISO RGD:3346 D RGD:9068941 20200609 RGD protein:increased activity:aorta PMID:1313006|REF_RGD_ID:2300423 9034662 Plcd1 phospholipase C delta 1 gene DOID:10763 hypertension ISO RGD:3346 D RGD:9068941 20200609 RGD protein:increased expression:aorta, arteriole, glomerulus PMID:17198910|REF_RGD_ID:2300421 9034662 Plcd1 phospholipase C delta 1 gene DOID:6000 congestive heart failure ISO RGD:3346 D RGD:9068941 20200609 RGD PMID:11181012|REF_RGD_ID:2300431 9034662 Plcd1 phospholipase C delta 1 gene DOID:630 genetic disease ISO RGD:733331 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034662 Plcd1 phospholipase C delta 1 gene DOID:8398 osteoarthritis ISO RGD:733331 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 9034662 Plcd1 phospholipase C delta 1 gene DOID:9004464 Skin Neoplasms ISO RGD:1553559 D RGD:9068941 20200609 RGD PMID:12805213|REF_RGD_ID:1302551 9034662 Plcd1 phospholipase C delta 1 gene DOID:9006024 Hypotension susceptibility ISO RGD:3346 D RGD:9068941 20200609 RGD DNA:missense mutation PMID:1358065|REF_RGD_ID:2300422 9034662 Plcd1 phospholipase C delta 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:3346 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:15276620|REF_RGD_ID:2300429 9034662 Plcd1 phospholipase C delta 1 gene DOID:9007480 Hyperoxia ISO RGD:3346 D RGD:9068941 20200609 RGD protein:altered localization PMID:12850505|REF_RGD_ID:1299008 9034662 Plcd1 phospholipase C delta 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3346 D RGD:9068941 20200609 RGD protein:altered activity PMID:12623065|REF_RGD_ID:1304368 9034662 Plcd1 phospholipase C delta 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:733331 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 9034662 Plcd1 phospholipase C delta 1 gene DOID:987 alopecia ISO RGD:1553559 D RGD:9068941 20200609 RGD PMID:12805213|REF_RGD_ID:1302551 9034690 Tdrkh tudor and KH domain containing gene DOID:0111940 immunodeficiency 42 ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9034690 Tdrkh tudor and KH domain containing gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9034690 Tdrkh tudor and KH domain containing gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1322527 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9034690 Tdrkh tudor and KH domain containing gene DOID:12377 spinal muscular atrophy ISO RGD:1322527 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:30503856 9034690 Tdrkh tudor and KH domain containing gene DOID:14227 azoospermia ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Azoospermia 9034690 Tdrkh tudor and KH domain containing gene DOID:1540 parathyroid carcinoma ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9034690 Tdrkh tudor and KH domain containing gene DOID:5812 MHC class II deficiency ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9034690 Tdrkh tudor and KH domain containing gene DOID:630 genetic disease ISO RGD:1322527 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034690 Tdrkh tudor and KH domain containing gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1322527 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9034715 Npy4r neuropeptide Y receptor Y4 gene DOID:5419 schizophrenia ISO RGD:731662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9034715 Npy4r neuropeptide Y receptor Y4 gene DOID:630 genetic disease ISO RGD:731662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034724 Six5 SIX homeobox 5 gene DOID:0111424 branchiootorenal syndrome 2 ISO RGD:1312832 D RGD:7240710 20191106 OMIM 9034724 Six5 SIX homeobox 5 gene DOID:0111424 branchiootorenal syndrome 2 ISO RGD:1312832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branchiootorenal syndrome 2 | ClinVar Annotator: match by term: SIX5-related condition PMID:17357085|PMID:21280147|PMID:24429398|PMID:25741868|PMID:26467025|PMID:27657687|PMID:28492532 9034724 Six5 SIX homeobox 5 gene DOID:14702 branchiootorenal syndrome ISO RGD:1312832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9034724 Six5 SIX homeobox 5 gene DOID:630 genetic disease ISO RGD:1312832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9034745 Plec plectin gene DOID:0060733 junctional epidermolysis bullosa with pyloric atresia ISO RGD:731690 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia 9034745 Plec plectin gene DOID:0060736 epidermolysis bullosa simplex Ogna type ISO RGD:731690 D RGD:7240710 20180130 OMIM 9034745 Plec plectin gene DOID:0060736 epidermolysis bullosa simplex Ogna type ISO RGD:731690 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:11851880|PMID:15206692|PMID:15810881|PMID:18414213|PMID:20016501|PMID:20301336|PMID:22854623|PMID:22864774|PMID:23757202|PMID:23774525|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28400893|PMID:28492532|PMID:29334134|PMID:29453417|PMID:32017015 9034745 Plec plectin gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9034745 Plec plectin gene DOID:0090005 Schwartz-Jampel syndrome 1 ISO RGD:731690 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin PMID:25741868 9034745 Plec plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:7240710 20180130 OMIM 9034745 Plec plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30293987|PMID:30919572|PMID:31319225|PMID:31513275|PMID:31517061|PMID:31641117|PMID:32017015|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 9034745 Plec plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30919572|PMID:31319225|PMID:31517061|PMID:31641117|PMID:32017015|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 9034745 Plec plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15206692|PMID:15654962|PMID:15659326|PMID:15810881|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28447722|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:29797489|PMID:30919572|PMID:31319225|PMID:31517061|PMID:31641117|PMID:32017015|PMID:32725257|PMID:34572129|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098 9034745 Plec plectin gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:731690 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:10446808|PMID:10652002|PMID:11851880|PMID:12071635|PMID:15206692|PMID:15654962|PMID:15659326|PMID:15810881|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19945614|PMID:20016501|PMID:20052759|PMID:20301336|PMID:20447487|PMID:20665883|PMID:21109228|PMID:21263134|PMID:22854623|PMID:22864774|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:24253200|PMID:25640679|PMID:25741868|PMID:25987458|PMID:26467025|PMID:26498160|PMID:27392081|PMID:27813154|PMID:28400893|PMID:28447722|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29050564|PMID:29334134|PMID:29352809|PMID:29453417|PMID:30161220|PMID:30293987|PMID:30691450|PMID:30919572|PMID:31001817|PMID:31066050|PMID:31230720|PMID:31269534|PMID:31319225|PMID:31509265|PMID:31513275|PMID:31517061|PMID:31641117|PMID:31862442|PMID:32017015|PMID:32576226|PMID:32707200|PMID:32725257|PMID:34046686|PMID:34572129|PMID:35579050|PMID:35670010|PMID:35815343|PMID:8696340|PMID:8830774|PMID:8894687|PMID:9536098|PMID:9886273 9034745 Plec plectin gene DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia ISO RGD:731690 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin PMID:25741868 9034745 Plec plectin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:731690 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:25741868|PMID:26467025|PMID:28492532 9034745 Plec plectin gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:731690 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:25741868 9034745 Plec plectin gene DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q ISO RGD:731690 D RGD:7240710 20180130 OMIM 9034745 Plec plectin gene DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q ISO RGD:731690 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 PMID:10652002|PMID:11851880|PMID:15206692|PMID:15810881|PMID:17576681|PMID:20301336|PMID:20447487|PMID:21109228|PMID:22854623|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28447722|PMID:28492532|PMID:28824526|PMID:29453417|PMID:30919572|PMID:31230720|PMID:31319225|PMID:32017015|PMID:34572129|PMID:9536098 9034745 Plec plectin gene DOID:12930 dilated cardiomyopathy ISO RGD:731690 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 9034745 Plec plectin gene DOID:423 myopathy ISO RGD:731690 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myopathy PMID:10652001|PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:25454730|PMID:25741868|PMID:28400893|PMID:28492532|PMID:28824526 9034745 Plec plectin gene DOID:4621 holoprosencephaly ISO RGD:731690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 9034745 Plec plectin gene DOID:4644 epidermolysis bullosa simplex ISO RGD:731690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex PMID:11851880|PMID:23289980|PMID:25741868|PMID:28492532 9034745 Plec plectin gene DOID:630 genetic disease ISO RGD:731690 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30161220|PMID:35579050|PMID:35815343 9034745 Plec plectin gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:731690 D RGD:7240710 20180130 OMIM 9034745 Plec plectin gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:731690 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:11851880|PMID:15206692|PMID:15659326|PMID:15810881|PMID:20301336|PMID:20447487|PMID:21109228|PMID:21263134|PMID:22854623|PMID:23289980|PMID:23757202|PMID:23774525|PMID:24033266|PMID:25712130|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28824526|PMID:28830826|PMID:29453417|PMID:32017015|PMID:32725257 9034745 Plec plectin gene DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia ISO RGD:731690 D RGD:7240710 20180130 OMIM 9034745 Plec plectin gene DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia ISO RGD:731690 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:11851880|PMID:14675180|PMID:15206692|PMID:15654962|PMID:15681471|PMID:15810881|PMID:20301336|PMID:22854623|PMID:23757202|PMID:23774525|PMID:24033266|PMID:25712130|PMID:25741868|PMID:26467025|PMID:26498160|PMID:28492532|PMID:29453417|PMID:32017015 9034808 Fam20c FAM20C golgi associated secretory pathway kinase gene DOID:0050445 X-linked dominant hypophosphatemic rickets ISO RGD:1323719 D RGD:9068941 20200609 RGD mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) PMID:24710520|REF_RGD_ID:11560488 9034808 Fam20c FAM20C golgi associated secretory pathway kinase gene DOID:0080600 COVID-19 ISO RGD:1323719 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9034808 Fam20c FAM20C golgi associated secretory pathway kinase gene DOID:10609 rickets ISO RGD:1323720 D RGD:9068941 20220825 MouseDO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 9034808 Fam20c FAM20C golgi associated secretory pathway kinase gene DOID:2187 amelogenesis imperfecta ISO RGD:12432310 D RGD:9068941 20210604 OMIA Dental hypomineralization PMID:27187611|PMID:27803843 9034808 Fam20c FAM20C golgi associated secretory pathway kinase gene DOID:2187 amelogenesis imperfecta ISO RGD:1323719 D RGD:9068941 20200609 RGD DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) PMID:25928877|REF_RGD_ID:11560491 9034808 Fam20c FAM20C golgi associated secretory pathway kinase gene DOID:2187 amelogenesis imperfecta ISO RGD:1323720 D RGD:9068941 20200609 RGD PMID:22732358|REF_RGD_ID:11560487 9034808 Fam20c FAM20C golgi associated secretory pathway kinase gene DOID:630 genetic disease ISO RGD:1323719 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9034808 Fam20c FAM20C golgi associated secretory pathway kinase gene DOID:9000666 Raine Syndrome ISO RGD:1323719 D RGD:7240710 20180130 OMIM 9034808 Fam20c FAM20C golgi associated secretory pathway kinase gene DOID:9000666 Raine Syndrome ISO RGD:1323719 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia PMID:12868469|PMID:14564151|PMID:17924334|PMID:19250384|PMID:2020859|PMID:20825432|PMID:22582013|PMID:24033266|PMID:25026495|PMID:25741868|PMID:27862258|PMID:28492532|PMID:32093234|PMID:32299476|PMID:32337609 9034808 Fam20c FAM20C golgi associated secretory pathway kinase gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1323720 D RGD:9068941 20200609 RGD PMID:22615579|REF_RGD_ID:11558021 9034808 Fam20c FAM20C golgi associated secretory pathway kinase gene DOID:9004003 Tooth Demineralization ISO RGD:1323719 D RGD:9068941 20200609 RGD associated with Rickets, Hypophosphatemic;DNA:snps, missense mutation, nonsense mutation:multiple (human) PMID:23325605|REF_RGD_ID:11558022 9034808 Fam20c FAM20C golgi associated secretory pathway kinase gene DOID:9008539 Perinatal Death ISO RGD:1323719 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:25558065 9034821 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:2303680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 9034821 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:2303680 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9034821 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0110541 autosomal dominant nonsyndromic deafness 1 ISO RGD:2303680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA PMID:28492532 9034821 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:2303680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 9034821 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:630 genetic disease ISO RGD:2303680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034821 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:2303680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9034821 Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:2303680 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9034835 Fam222a family with sequence similarity 222 member A gene DOID:630 genetic disease ISO RGD:1605921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034843 Tm4sf4 transmembrane 4 L six family member 4 gene DOID:0050579 glycogen storage disease XV ISO RGD:731779 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease XV PMID:20357282|PMID:25272951|PMID:28492532 9034843 Tm4sf4 transmembrane 4 L six family member 4 gene DOID:409 liver disease ISO RGD:731779 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17069928 9034843 Tm4sf4 transmembrane 4 L six family member 4 gene DOID:630 genetic disease ISO RGD:731779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034852 L1cam L1 cell adhesion molecule gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9034852 L1cam L1 cell adhesion molecule gene DOID:0050476 Barth syndrome ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9034852 L1cam L1 cell adhesion molecule gene DOID:0050753 cerebellar ataxia ISO RGD:1352608 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 9034852 L1cam L1 cell adhesion molecule gene DOID:0050771 pheochromocytoma ISO RGD:1352608 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:adrenal medulla: PMID:20937862|REF_RGD_ID:11570409 9034852 L1cam L1 cell adhesion molecule gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 9034852 L1cam L1 cell adhesion molecule gene DOID:0060046 aphasia ISO RGD:1352608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7920660 9034852 L1cam L1 cell adhesion molecule gene DOID:0060246 MASA syndrome ISO RGD:1352608 D RGD:7240710 20180130 OMIM 9034852 L1cam L1 cell adhesion molecule gene DOID:0060246 MASA syndrome ISO RGD:1352608 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome PMID:10469653|PMID:10767310|PMID:10797421|PMID:10908608|PMID:11438988|PMID:11772994|PMID:11857550|PMID:12442287|PMID:12725590|PMID:1303258|PMID:13889294|PMID:15108295|PMID:15148591|PMID:15555929|PMID:16199547|PMID:16650080|PMID:17328266|PMID:17576681|PMID:18136715|PMID:1870106|PMID:19617634|PMID:19641926|PMID:19846429|PMID:19953645|PMID:20447653|PMID:20621658|PMID:21271669|PMID:21688291|PMID:22973895|PMID:23820807|PMID:24155914|PMID:25644381|PMID:25666757|PMID:25741868|PMID:26467025|PMID:26891472|PMID:28492532|PMID:30249681|PMID:30712878|PMID:31069529|PMID:31319225|PMID:31474318|PMID:31504653|PMID:31680349|PMID:32416898|PMID:32488064|PMID:3460961|PMID:7493978|PMID:7562969|PMID:7762552|PMID:7881431|PMID:7920659|PMID:7920660|PMID:8062435|PMID:8401576|PMID:8401593|PMID:8826452|PMID:8929944|PMID:9195224|PMID:9268105|PMID:9279760|PMID:9300653|PMID:9521424|PMID:9536098|PMID:9610803|PMID:9643285|PMID:9744477 9034852 L1cam L1 cell adhesion molecule gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 9034852 L1cam L1 cell adhesion molecule gene DOID:0070338 cerebellar hypoplasia ISO RGD:1352608 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:16650080|PMID:25741868|PMID:31474318|PMID:7562969|PMID:8929944 9034852 L1cam L1 cell adhesion molecule gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1352608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 9034852 L1cam L1 cell adhesion molecule gene DOID:0112003 immunodeficiency 33 ISO RGD:1352608 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 9034852 L1cam L1 cell adhesion molecule gene DOID:10487 Hirschsprung's disease ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon PMID:28492532 9034852 L1cam L1 cell adhesion molecule gene DOID:10588 adrenoleukodystrophy ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9034852 L1cam L1 cell adhesion molecule gene DOID:1059 intellectual disability ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9034852 L1cam L1 cell adhesion molecule gene DOID:10652 Alzheimer's disease ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:16298234|REF_RGD_ID:6483456 9034852 L1cam L1 cell adhesion molecule gene DOID:10908 hydrocephalus ISO RGD:1352608 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Severe hydrocephalus | ClinVar Annotator: match by term: X-linked hydrocephalus PMID:16650080|PMID:19846429|PMID:25741868|PMID:28492532|PMID:31069529|PMID:31474318|PMID:31680349|PMID:7562969|PMID:7881431|PMID:8929944|PMID:9300653|PMID:9643285 9034852 L1cam L1 cell adhesion molecule gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9034852 L1cam L1 cell adhesion molecule gene DOID:12849 autistic disorder ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9034852 L1cam L1 cell adhesion molecule gene DOID:12858 Huntington's disease ISO RGD:10850 D RGD:9068941 20200609 RGD PMID:17093074|REF_RGD_ID:6483035 9034852 L1cam L1 cell adhesion molecule gene DOID:13628 favism ISO RGD:1352608 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 9034852 L1cam L1 cell adhesion molecule gene DOID:14330 Parkinson's disease ISO RGD:10850 D RGD:9068941 20200609 RGD PMID:19995872|REF_RGD_ID:6483033 9034852 L1cam L1 cell adhesion molecule gene DOID:1459 hypothyroidism ISO RGD:619777 D RGD:9068941 20200609 RGD mRNA,protein:increased expression: cerebral cortex: PMID:11085884|REF_RGD_ID:11570514 9034852 L1cam L1 cell adhesion molecule gene DOID:1596 depressive disorder ISO RGD:619777 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (rat) PMID:20018220|REF_RGD_ID:6483073 9034852 L1cam L1 cell adhesion molecule gene DOID:1793 pancreatic cancer treatment ISO RGD:1352608 D RGD:9068941 20200609 RGD PMID:22095073|REF_RGD_ID:11570404 9034852 L1cam L1 cell adhesion molecule gene DOID:2030 anxiety disorder ISO RGD:619777 D RGD:9068941 20200609 RGD protein:increased expression: brain, multiple (rat) PMID:19746433|REF_RGD_ID:6483075 9034852 L1cam L1 cell adhesion molecule gene DOID:2476 hereditary spastic paraplegia ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10797421|PMID:11438988|PMID:11772994|PMID:16760466|PMID:18414213|PMID:19846429|PMID:22222883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30487145|PMID:9195224|PMID:9268105 9034852 L1cam L1 cell adhesion molecule gene DOID:2729 dyskeratosis congenita ISO RGD:1352608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 9034852 L1cam L1 cell adhesion molecule gene DOID:3068 glioblastoma ISO RGD:1352608 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain, temporal lobe (human) PMID:20419098|REF_RGD_ID:6483067 9034852 L1cam L1 cell adhesion molecule gene DOID:3312 bipolar disorder ISO RGD:1352608 D RGD:9068941 20200609 RGD associated with Depressive Disorder; mRNA:increased expression:blood (human) PMID:18430502|REF_RGD_ID:6483084 9034852 L1cam L1 cell adhesion molecule gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (human) PMID:20162456|REF_RGD_ID:6483447 9034852 L1cam L1 cell adhesion molecule gene DOID:363 uterine cancer severity ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:uterus, serum (human) PMID:13678974|REF_RGD_ID:6483445 9034852 L1cam L1 cell adhesion molecule gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1352608 D RGD:9068941 20200609 RGD PMID:22307136|REF_RGD_ID:11570503 9034852 L1cam L1 cell adhesion molecule gene DOID:4001 ovarian carcinoma ISO RGD:1352608 D RGD:9068941 20200609 RGD human cells, mouse model PMID:16424028|REF_RGD_ID:6483449 9034852 L1cam L1 cell adhesion molecule gene DOID:4001 ovarian carcinoma severity ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:ovary, serum (human) PMID:13678974|REF_RGD_ID:6483445 9034852 L1cam L1 cell adhesion molecule gene DOID:4450 renal cell carcinoma ISO RGD:1352608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21097529 9034852 L1cam L1 cell adhesion molecule gene DOID:5419 schizophrenia susceptibility ISO RGD:1352608 D RGD:9068941 20200609 RGD associated with male;DNA:mutation:intron:13504 C > T(human) PMID:11425011|REF_RGD_ID:11570408 9034852 L1cam L1 cell adhesion molecule gene DOID:607 paraplegia ISO RGD:1352608 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10469653|PMID:10480214|PMID:10632110|PMID:10767310|PMID:10797421|PMID:11438988|PMID:11748843|PMID:11772994|PMID:11968085|PMID:12442287|PMID:12514225|PMID:12725590|PMID:15108295|PMID:15148591|PMID:15555929|PMID:15904436|PMID:16199547|PMID:16427346|PMID:16601897|PMID:16684786|PMID:16760466|PMID:17576681|PMID:18414213|PMID:19396829|PMID:19617634|PMID:19641926|PMID:19846429|PMID:19953645|PMID:20447653|PMID:20730588|PMID:21688291|PMID:22222883|PMID:22281021|PMID:22382802|PMID:22973895|PMID:23184456|PMID:23409742|PMID:23660394|PMID:23820807|PMID:24155914|PMID:24365856|PMID:24962355|PMID:25666757|PMID:25741868|PMID:25948108|PMID:26467025|PMID:26471271|PMID:26891472|PMID:28492532|PMID:28781826|PMID:29334594|PMID:29706646|PMID:29960101|PMID:30365056|PMID:30487145|PMID:30712878|PMID:31504653|PMID:32416898|PMID:33196764|PMID:7562969|PMID:7762552|PMID:7920659|PMID:8062435|PMID:8069317|PMID:8401576|PMID:8826452|PMID:9195224|PMID:9268105|PMID:9300653|PMID:9384614|PMID:9521424|PMID:9536098|PMID:9610803|PMID:9744477 9034852 L1cam L1 cell adhesion molecule gene DOID:630 genetic disease ISO RGD:1352608 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10469653|PMID:10797421|PMID:10908608|PMID:11438988|PMID:11772994|PMID:13889294|PMID:15555929|PMID:16760466|PMID:17328266|PMID:18136715|PMID:18414213|PMID:19617634|PMID:19846429|PMID:20621658|PMID:21688291|PMID:22222883|PMID:22973895|PMID:24155914|PMID:25666757|PMID:25741868|PMID:26467025|PMID:26891472|PMID:28492532|PMID:30487145|PMID:31680349|PMID:32416898|PMID:7762552|PMID:7881431|PMID:7920659|PMID:9195224|PMID:9268105|PMID:9300653|PMID:9721721 9034852 L1cam L1 cell adhesion molecule gene DOID:9000115 Posthemorrhagic Hydrocephalus ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:22186713|REF_RGD_ID:6483013 9034852 L1cam L1 cell adhesion molecule gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352608 D RGD:9068941 20200609 RGD associated with Lung Neoplasms; PMID:22307136|REF_RGD_ID:11570503 9034852 L1cam L1 cell adhesion molecule gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:1352608 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms; PMID:22095073|REF_RGD_ID:11570404 9034852 L1cam L1 cell adhesion molecule gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:10850 D RGD:9068941 20200609 RGD PMID:21376041|REF_RGD_ID:6483044 9034852 L1cam L1 cell adhesion molecule gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:619777 D RGD:9068941 20200609 RGD PMID:17640175|REF_RGD_ID:6483092 9034852 L1cam L1 cell adhesion molecule gene DOID:9001553 Spinal Cord Compression ISO RGD:10850 D RGD:9068941 20200609 RGD PMID:21671795|REF_RGD_ID:6483029 9034852 L1cam L1 cell adhesion molecule gene DOID:9002720 Splenomegaly ISO RGD:1352608 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 9034852 L1cam L1 cell adhesion molecule gene DOID:9004795 Congenital Hand Deformities ISO RGD:1352608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7920660 9034852 L1cam L1 cell adhesion molecule gene DOID:9005824 X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction ISO RGD:1352608 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction PMID:12650797|PMID:15368500 9034852 L1cam L1 cell adhesion molecule gene DOID:9006167 Partial Agenesis of Corpus Callosum, X-Linked ISO RGD:1352608 D RGD:7240710 20180130 OMIM 9034852 L1cam L1 cell adhesion molecule gene DOID:9006167 Partial Agenesis of Corpus Callosum, X-Linked ISO RGD:1352608 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corpus callosum, partial agenesis of, X-linked PMID:10469653|PMID:11772994|PMID:15368500|PMID:15555929|PMID:16650080|PMID:19617634|PMID:19846429|PMID:22973895|PMID:24155914|PMID:25666757|PMID:25741868|PMID:28492532|PMID:29706646|PMID:31069529|PMID:31474318|PMID:7562969|PMID:7762552|PMID:7920659|PMID:8929944|PMID:9300653 9034852 L1cam L1 cell adhesion molecule gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1352608 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7920660 9034852 L1cam L1 cell adhesion molecule gene DOID:9006382 X-Linked Hydrocephalus ISO RGD:1352608 D RGD:7240710 20180130 OMIM 9034852 L1cam L1 cell adhesion molecule gene DOID:9006382 X-Linked Hydrocephalus ISO RGD:1352608 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Aqueductal stenosis, X-linked | ClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis PMID:10469653|PMID:10767310|PMID:11772994|PMID:16650080|PMID:18414213|PMID:19846429|PMID:25741868|PMID:28492532|PMID:31069529|PMID:31474318|PMID:31504653|PMID:32416898|PMID:7562969|PMID:7920659|PMID:8929944|PMID:9643285 9034852 L1cam L1 cell adhesion molecule gene DOID:9008086 Developmental Disabilities ISO RGD:1352608 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9034852 L1cam L1 cell adhesion molecule gene DOID:9008732 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 ISO RGD:1352608 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:25741868 9034852 L1cam L1 cell adhesion molecule gene DOID:9256 colorectal cancer severity ISO RGD:1352608 D RGD:9068941 20200609 RGD protein:increased expression:colon (human) PMID:17873897|REF_RGD_ID:6483011 9034890 Nab2 NGFI-A binding protein 2 gene DOID:630 genetic disease ISO RGD:1323313 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034890 Nab2 NGFI-A binding protein 2 gene DOID:9002958 Solitary Fibrous Tumors ISO RGD:1323313 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313952|PMID:23313954 9034902 Slc23a3 solute carrier family 23 member 3 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 9034902 Slc23a3 solute carrier family 23 member 3 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 9034902 Slc23a3 solute carrier family 23 member 3 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 9034902 Slc23a3 solute carrier family 23 member 3 gene DOID:1148 polydactyly ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 9034902 Slc23a3 solute carrier family 23 member 3 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 9034902 Slc23a3 solute carrier family 23 member 3 gene DOID:630 genetic disease ISO RGD:1345783 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034902 Slc23a3 solute carrier family 23 member 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345783 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9034946 Klf4 KLF transcription factor 4 gene DOID:0060903 thrombosis ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25339356 9034946 Klf4 KLF transcription factor 4 gene DOID:0080600 COVID-19 ISO RGD:1342656 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 9034946 Klf4 KLF transcription factor 4 gene DOID:1682 congenital heart disease ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20439457 9034946 Klf4 KLF transcription factor 4 gene DOID:630 genetic disease ISO RGD:1342656 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034946 Klf4 KLF transcription factor 4 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9034946 Klf4 KLF transcription factor 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1342656 D RGD:9068941 20200609 RGD PMID:22677193|REF_RGD_ID:14402023 9034946 Klf4 KLF transcription factor 4 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1342656 D RGD:9068941 20200609 RGD PMID:22677193|REF_RGD_ID:14402023 9034946 Klf4 KLF transcription factor 4 gene DOID:9005835 Congenital Abnormalities ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20439457 9034946 Klf4 KLF transcription factor 4 gene DOID:9006182 Carotid Artery Injuries ameliorates ISO RGD:621445 D RGD:9068941 20220922 RGD PMID:29127880|REF_RGD_ID:155230825 9034946 Klf4 KLF transcription factor 4 gene DOID:9007102 Myocardial Ischemia ISO RGD:1342656 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9034960 Cbx8 chromobox 8 gene DOID:3068 glioblastoma ISO RGD:1351003 D RGD:9068941 20200609 RGD mRNA:increased expression:astrocyte: PMID:24260522|REF_RGD_ID:9587354 9034960 Cbx8 chromobox 8 gene DOID:3748 esophagus squamous cell carcinoma severity ISO RGD:1351003 D RGD:9068941 20200609 RGD mRNA:increased expression:esophagus: PMID:25197352|REF_RGD_ID:9587436 9034960 Cbx8 chromobox 8 gene DOID:630 genetic disease ISO RGD:1351003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9034960 Cbx8 chromobox 8 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1351003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 9034969 Hcfc1 host cell factor C1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1345622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9034969 Hcfc1 host cell factor C1 gene DOID:0050476 Barth syndrome ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9034969 Hcfc1 host cell factor C1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28492532 9034969 Hcfc1 host cell factor C1 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 9034969 Hcfc1 host cell factor C1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835 9034969 Hcfc1 host cell factor C1 gene DOID:0111784 otopalatodigital syndrome type 2 ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:15689435|PMID:16080119|PMID:28492532 9034969 Hcfc1 host cell factor C1 gene DOID:0111785 frontometaphyseal dysplasia ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:15689435|PMID:16080119|PMID:28492532 9034969 Hcfc1 host cell factor C1 gene DOID:0111788 Melnick-Needles syndrome ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:15689435|PMID:16080119|PMID:28492532 9034969 Hcfc1 host cell factor C1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1345622 D RGD:7240710 20180130 OMIM 9034969 Hcfc1 host cell factor C1 gene DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3 PMID:15689435|PMID:16080119|PMID:17576681|PMID:18414213|PMID:1870093|PMID:23000143|PMID:23539139|PMID:24011988|PMID:25167861|PMID:25281006|PMID:25740848|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28363510|PMID:28449119|PMID:28492532|PMID:28554332|PMID:35013307|PMID:9536098 9034969 Hcfc1 host cell factor C1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1345622 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:26930212|PMID:28492532 9034969 Hcfc1 host cell factor C1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1345622 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 9034969 Hcfc1 host cell factor C1 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1345622 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arylsulfatase A Deficiency PMID:25741868 9034969 Hcfc1 host cell factor C1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9034969 Hcfc1 host cell factor C1 gene DOID:1059 intellectual disability ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28492532 9034969 Hcfc1 host cell factor C1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9034969 Hcfc1 host cell factor C1 gene DOID:12849 autistic disorder ISO RGD:1345622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:21681106|PMID:23000143|PMID:25740848|PMID:25741868|PMID:30208311 9034969 Hcfc1 host cell factor C1 gene DOID:13628 favism ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 9034969 Hcfc1 host cell factor C1 gene DOID:2729 dyskeratosis congenita ISO RGD:1345622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 9034969 Hcfc1 host cell factor C1 gene DOID:607 paraplegia ISO RGD:1345622 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9034969 Hcfc1 host cell factor C1 gene DOID:630 genetic disease ISO RGD:1345622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23539139|PMID:24011988|PMID:25740848|PMID:25741868|PMID:28492532|PMID:28554332 9034969 Hcfc1 host cell factor C1 gene DOID:655 inherited metabolic disorder ISO RGD:1345622 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:24011988|PMID:25167861|PMID:25281006|PMID:25741868|PMID:26893841|PMID:27403441|PMID:28363510|PMID:28449119|PMID:28492532|PMID:35013307 9034969 Hcfc1 host cell factor C1 gene DOID:9001255 Kabuki Syndrome 1 ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:29255178 9034969 Hcfc1 host cell factor C1 gene DOID:9002720 Splenomegaly ISO RGD:1345622 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 9034969 Hcfc1 host cell factor C1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345622 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 9034969 Hcfc1 host cell factor C1 gene DOID:9005082 Periventricular Nodular Heterotopia 4 ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:15689435|PMID:16080119|PMID:28492532 9034969 Hcfc1 host cell factor C1 gene DOID:9005190 Juberg Hayward Syndrome ISO RGD:1345622 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome PMID:15689435|PMID:16080119|PMID:28492532 9034969 Hcfc1 host cell factor C1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1345622 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED | ClinVar Annotator: match by term: Mental retardation, X-linked PMID:23000143|PMID:25740848|PMID:25741868 9034969 Hcfc1 host cell factor C1 gene DOID:9007188 Liver Neoplasms ISO RGD:1345622 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19255062 9035016 Vgf VGF nerve growth factor inducible gene DOID:10808 gastric ulcer ISO RGD:69439 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20805684 9035016 Vgf VGF nerve growth factor inducible gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:69439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9035016 Vgf VGF nerve growth factor inducible gene DOID:630 genetic disease ISO RGD:69439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035016 Vgf VGF nerve growth factor inducible gene DOID:9002916 Hyperphagia ISO RGD:69439 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12177191 9035016 Vgf VGF nerve growth factor inducible gene DOID:9008533 Plasminogen Activator Inhibitor-1 Deficiency ISO RGD:69439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY PMID:21681106 9035016 Vgf VGF nerve growth factor inducible gene DOID:9970 obesity ISO RGD:69439 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12177191 9035035 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1354073 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9035035 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:0080600 COVID-19 ISO RGD:1354073 D RGD:9068941 20200618 RGD mRNA:decreased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9035035 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:1354073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:25741868|PMID:28492532 9035035 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1354073 D RGD:7240710 20190710 OMIM 9035035 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1354073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:17576681|PMID:19666484|PMID:21041452|PMID:25741868|PMID:28492532|PMID:9536098 9035035 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:12177 common variable immunodeficiency ISO RGD:1354073 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive PMID:28492532 9035035 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1354073 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 9035035 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:630 genetic disease ISO RGD:1354073 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035035 Tnfrsf13c TNF receptor superfamily member 13C gene DOID:9000998 Brain Injuries ISO RGD:1354073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23159883 9035046 Sec24b SEC24 homolog B, COPII coat complex component gene DOID:630 genetic disease ISO RGD:1319664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035085 Mzf1 myeloid zinc finger 1 gene DOID:630 genetic disease ISO RGD:1318132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035102 Myh1 myosin heavy chain 1 gene DOID:0080719 congenital myopathy 6 ISO RGD:1350148 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 9035102 Myh1 myosin heavy chain 1 gene DOID:630 genetic disease ISO RGD:1350148 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035143 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 9035143 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 9035143 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1606771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9035143 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1606771 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 9035143 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 9035143 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 9035143 Zgpat zinc finger CCCH-type and G-patch domain containing gene DOID:630 genetic disease ISO RGD:1606771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035162 Wdr74 WD repeat domain 74 gene DOID:0080600 COVID-19 ISO RGD:1603395 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 9035162 Wdr74 WD repeat domain 74 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1603395 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9035162 Wdr74 WD repeat domain 74 gene DOID:1059 intellectual disability ISO RGD:1603395 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9035162 Wdr74 WD repeat domain 74 gene DOID:14566 disease of cellular proliferation ISO RGD:1603395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25261935 9035162 Wdr74 WD repeat domain 74 gene DOID:1909 melanoma ISO RGD:1603395 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 9035162 Wdr74 WD repeat domain 74 gene DOID:630 genetic disease ISO RGD:1603395 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035181 Nudt5 nudix hydrolase 5 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1345366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9035181 Nudt5 nudix hydrolase 5 gene DOID:630 genetic disease ISO RGD:1345366 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035198 Pycr3 pyrroline-5-carboxylate reductase 3 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:1319273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9035198 Pycr3 pyrroline-5-carboxylate reductase 3 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:1319273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9035198 Pycr3 pyrroline-5-carboxylate reductase 3 gene DOID:10283 prostate cancer ISO RGD:1319273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9035198 Pycr3 pyrroline-5-carboxylate reductase 3 gene DOID:4621 holoprosencephaly ISO RGD:1319273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 9035198 Pycr3 pyrroline-5-carboxylate reductase 3 gene DOID:630 genetic disease ISO RGD:1319273 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035209 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:0080282 developmental and epileptic encephalopathy 56 ISO RGD:736065 D RGD:7240710 20190315 OMIM 9035209 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:0080282 developmental and epileptic encephalopathy 56 ISO RGD:736065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 56 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 PMID:23934111|PMID:25741868|PMID:28492532|PMID:28777935|PMID:31926053|PMID:33590706|PMID:33619735|PMID:33767733|PMID:34294877|PMID:34413451|PMID:36243722 9035209 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:0080600 COVID-19 ISO RGD:736065 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9035209 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:736065 D RGD:9068941 20210618 RGD protein:increased expression:CSF (human) PMID:27929120|PMID:30309804|PMID:31541342|REF_RGD_ID:127284880|REF_RGD_ID:127284881|REF_RGD_ID:127284887 9035209 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:1826 epilepsy ISO RGD:736065 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:31926053 9035209 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9035209 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:630 genetic disease ISO RGD:736065 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:31926053|PMID:33590706|PMID:34294877|PMID:34413451|PMID:36243722 9035209 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:8927 learning disability ISO RGD:736065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Specific learning disability 9035209 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:736065 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:27929120|REF_RGD_ID:127284887 9035209 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736065 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9035209 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:736065 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 9035215 Ranbp2 RAN binding protein 2 gene DOID:0050591 tooth agenesis ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oligodontia PMID:23210707 9035215 Ranbp2 RAN binding protein 2 gene DOID:0050905 inflammatory myofibroblastic tumor ISO RGD:1351414 D RGD:9068941 20200609 RGD DNA:translocations:intron: (human) PMID:12661011|REF_RGD_ID:9999211 9035215 Ranbp2 RAN binding protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:24807792|PMID:25255310 9035215 Ranbp2 RAN binding protein 2 gene DOID:0080122 Alpers-Huttenlocher syndrome ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:10431241|PMID:18231121|PMID:20236127|PMID:20979233|PMID:25741868|PMID:28492532 9035215 Ranbp2 RAN binding protein 2 gene DOID:0080855 Parkinsonism severity ISO RGD:1558482 D RGD:9068941 20200609 RGD PMID:22821000|REF_RGD_ID:9835348 9035215 Ranbp2 RAN binding protein 2 gene DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 ISO RGD:1351414 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A PMID:28492532 9035215 Ranbp2 RAN binding protein 2 gene DOID:0111654 ectodermal dysplasia 11B ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11035039|PMID:15013427|PMID:16435307|PMID:18231121|PMID:20979233|PMID:23401279|PMID:25741868|PMID:27657131|PMID:28492532 9035215 Ranbp2 RAN binding protein 2 gene DOID:0111663 ectodermal dysplasia 10A ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant PMID:10431241|PMID:10431242|PMID:11035039|PMID:15013427|PMID:16029325|PMID:16199547|PMID:16435307|PMID:17125505|PMID:17576681|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18854857|PMID:19438931|PMID:20236127|PMID:20979233|PMID:21771270|PMID:21876339|PMID:22032522|PMID:23401279|PMID:23991204|PMID:24033266|PMID:24641098|PMID:24884697|PMID:25741868|PMID:26077850|PMID:26336973|PMID:27305980|PMID:27657131|PMID:28265457|PMID:28492532|PMID:28981473|PMID:32274043|PMID:32325225|PMID:33205897|PMID:9536098 9035215 Ranbp2 RAN binding protein 2 gene DOID:0111665 ectodermal dysplasia 10B ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:10431241|PMID:11279189|PMID:15373768|PMID:16435307|PMID:18065779|PMID:18231121|PMID:18561327|PMID:18704500|PMID:18816645|PMID:20236127|PMID:20979233|PMID:22032522|PMID:24033266|PMID:25741868|PMID:28492532 9035215 Ranbp2 RAN binding protein 2 gene DOID:12336 male infertility ISO RGD:1558482 D RGD:9068941 20200609 RGD PMID:21310149|REF_RGD_ID:9835350 9035215 Ranbp2 RAN binding protein 2 gene DOID:13714 anodontia ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Non-syndromic oligodontia PMID:10431241|PMID:17125505|PMID:18065779|PMID:18561327|PMID:18704500|PMID:24884697|PMID:25741868|PMID:26336973|PMID:27305980|PMID:28492532 9035215 Ranbp2 RAN binding protein 2 gene DOID:14793 hypohidrotic ectodermal dysplasia ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia PMID:18065779|PMID:18561327|PMID:18704500|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28808699 9035215 Ranbp2 RAN binding protein 2 gene DOID:2121 ectodermal dysplasia ISO RGD:1351414 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant PMID:16435307|PMID:18065779|PMID:18561327|PMID:18704500|PMID:18816645|PMID:23210707|PMID:24033266|PMID:25741868|PMID:28492532 9035215 Ranbp2 RAN binding protein 2 gene DOID:4194 glucose metabolism disease ISO RGD:1558482 D RGD:9068941 20200609 RGD PMID:17069463|REF_RGD_ID:9835347 9035215 Ranbp2 RAN binding protein 2 gene DOID:630 genetic disease ISO RGD:1351414 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23401279|PMID:25741868|PMID:28166811|PMID:28492532 9035215 Ranbp2 RAN binding protein 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 ISO RGD:1351414 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to PMID:17576681|PMID:19118815|PMID:19811512|PMID:20473521|PMID:21205700|PMID:21945312|PMID:22030434|PMID:25128471|PMID:25522933|PMID:25640679|PMID:25741868|PMID:26110162|PMID:26923722|PMID:2759111|PMID:27591117|PMID:28166811|PMID:28336122|PMID:28492532|PMID:29593631|PMID:32760653|PMID:9536098 9035215 Ranbp2 RAN binding protein 2 gene DOID:9003471 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 susceptibility ISO RGD:1351414 D RGD:7240710 20190502 OMIM 9035215 Ranbp2 RAN binding protein 2 gene DOID:9004794 Granuloma, Plasma Cell ISO RGD:1351414 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21030459 9035215 Ranbp2 RAN binding protein 2 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:1351414 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Potassium-aggravated myotonia PMID:25741868 9035215 Ranbp2 RAN binding protein 2 gene DOID:9538 multiple myeloma ISO RGD:1351414 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow, plasma cell (human) PMID:19171422|REF_RGD_ID:9835349 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:10966 lipoid nephrosis ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lipoid nephrosis PMID:23687361|PMID:32581362 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:1168 familial hyperlipidemia ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:11836 clubfoot ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147669 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:1184 nephrotic syndrome ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23687361|PMID:24042019|PMID:25741868|PMID:26560070|PMID:28059119|PMID:28492532|PMID:29127259|PMID:32356190|PMID:32791958|PMID:33532864 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1345352 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:150 disease of mental health ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:557 kidney disease ISO RGD:1345352 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:576 proteinuria ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147669|PMID:20199424 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:630 genetic disease ISO RGD:1345352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9000363 Hematuria ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147669 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9004576 Sleep Initiation and Maintenance Disorders ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20199424 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1345352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30374069 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9006677 Salcedo Syndrome ISO RGD:1345352 D RGD:7240710 20201223 OMIM 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9006677 Salcedo Syndrome ISO RGD:1345352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nail-patella-like renal disease PMID:23687361|PMID:24042019|PMID:25741868|PMID:26560070|PMID:28059119|PMID:28492532|PMID:29127259|PMID:32356190|PMID:32581362|PMID:32791958|PMID:33532864 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9467 nail-patella syndrome ISO RGD:1345352 D RGD:7240710 20180130 OMIM 9035258 Lmx1b LIM homeobox transcription factor 1 beta gene DOID:9467 nail-patella syndrome ISO RGD:1345352 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: LMX1B-related condition | ClinVar Annotator: match by term: Nail-patella syndrome PMID:10571942|PMID:10854116|PMID:15498463|PMID:15774843|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18414507|PMID:19194568|PMID:23687361|PMID:24042019|PMID:24720768|PMID:25525159|PMID:25741868|PMID:25898926|PMID:26380986|PMID:26560070|PMID:27450397|PMID:28059119|PMID:28335748|PMID:28492532|PMID:28780565|PMID:29127259|PMID:29869118|PMID:30881852|PMID:32356190|PMID:32791958|PMID:33532864|PMID:9536098|PMID:9590287|PMID:9618165|PMID:9837817 9035274 Krt5 keratin 5 gene DOID:0060256 Dowling-Degos disease ISO RGD:1343872 D RGD:9068941 20221013 CTD CTD Direct Evidence: marker/mechanism 9035274 Krt5 keratin 5 gene DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type ISO RGD:1553117 D RGD:9068941 20220825 MouseDO OMIM:131760 9035274 Krt5 keratin 5 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9035274 Krt5 keratin 5 gene DOID:0080511 epidermolysis bullosa simplex generalized type ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:20199538|PMID:25741868|PMID:7520042|PMID:8807337 9035274 Krt5 keratin 5 gene DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation ISO RGD:1343872 D RGD:7240710 20180130 OMIM 9035274 Krt5 keratin 5 gene DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation ISO RGD:1343872 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation | ClinVar Annotator: match by term: Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering PMID:1049409|PMID:10494094|PMID:11167681|PMID:12925204|PMID:15030360|PMID:15324323|PMID:15647384|PMID:15982306|PMID:16098032|PMID:16581562|PMID:16601668|PMID:16882168|PMID:17229601|PMID:20030639|PMID:20055872|PMID:20108434|PMID:20301543|PMID:20923750|PMID:23889190|PMID:24104543|PMID:2476664|PMID:25741868|PMID:26743602|PMID:27730678|PMID:28492532|PMID:28561874|PMID:31001817|PMID:31579952|PMID:421361|PMID:6457621|PMID:8799157|PMID:9036937|PMID:9129237 9035274 Krt5 keratin 5 gene DOID:11054 urinary bladder cancer ISO RGD:727894 D RGD:9068941 20210312 RGD PMID:7507402|REF_RGD_ID:1600196 9035274 Krt5 keratin 5 gene DOID:2513 basal cell carcinoma ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578363|PMID:20871598 9035274 Krt5 keratin 5 gene DOID:2730 epidermolysis bullosa ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa PMID:25741868 9035274 Krt5 keratin 5 gene DOID:305 carcinoma ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9035274 Krt5 keratin 5 gene DOID:4644 epidermolysis bullosa simplex ISO RGD:1343872 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex PMID:1049409|PMID:10494094|PMID:11167681|PMID:11407988|PMID:11973334|PMID:12925204|PMID:15030360|PMID:15324323|PMID:15647384|PMID:15982306|PMID:16098032|PMID:16465624|PMID:16581562|PMID:16601668|PMID:16882168|PMID:17034543|PMID:17039244|PMID:1718160|PMID:17229601|PMID:17855059|PMID:18384561|PMID:20030639|PMID:20055872|PMID:20108434|PMID:20199538|PMID:20301543|PMID:20923750|PMID:21144712|PMID:21375516|PMID:21623745|PMID:23889190|PMID:24104543|PMID:2476664|PMID:25741868|PMID:26432462|PMID:26707537|PMID:26743602|PMID:27730678|PMID:28425111|PMID:28492532|PMID:28561874|PMID:31302245|PMID:31312705|PMID:31579952|PMID:421361|PMID:6457621|PMID:7682695|PMID:7686424|PMID:8595431|PMID:8799157|PMID:8807337|PMID:9036937|PMID:9129237 9035274 Krt5 keratin 5 gene DOID:4644 epidermolysis bullosa simplex susceptibility ISO RGD:1343872 D RGD:9068941 20200609 RGD DNA:mutation PMID:1372711|REF_RGD_ID:1600195 9035274 Krt5 keratin 5 gene DOID:630 genetic disease ISO RGD:1343872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9035274 Krt5 keratin 5 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9035274 Krt5 keratin 5 gene DOID:9000523 Generalized Epidermolysis Bullosa Simplex 1B ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type PMID:20199538|PMID:25741868|PMID:7520042|PMID:8807337 9035274 Krt5 keratin 5 gene DOID:9000621 Generalized Epidermolysis Bullosa Simplex 2D ISO RGD:1343872 D RGD:7240710 20211110 OMIM 9035274 Krt5 keratin 5 gene DOID:9000621 Generalized Epidermolysis Bullosa Simplex 2D ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive PMID:16465624|PMID:20199538|PMID:25741868|PMID:31312705 9035274 Krt5 keratin 5 gene DOID:9002226 Localized Epidermolysis Bullosa Simplex 2C ISO RGD:1343872 D RGD:7240710 20211110 OMIM 9035274 Krt5 keratin 5 gene DOID:9002226 Localized Epidermolysis Bullosa Simplex 2C ISO RGD:1343872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of PMID:16098032|PMID:18384561|PMID:21144712|PMID:25741868|PMID:28425111|PMID:28492532|PMID:31302245|PMID:7520042|PMID:7537780|PMID:7688477|PMID:8807337 9035274 Krt5 keratin 5 gene DOID:9002302 Generalized Severe Epidermolysis Bullosa Simplex 1A ISO RGD:1343872 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe PMID:10730767|PMID:16098032|PMID:16439963|PMID:16601668|PMID:16882168|PMID:17549391|PMID:20030639|PMID:20301543|PMID:21375516|PMID:25741868|PMID:26743602|PMID:28492532|PMID:28561874|PMID:31579952|PMID:9036937 9035274 Krt5 keratin 5 gene DOID:9002684 Localized Epidermolysis Bullosa Simplex 1C ISO RGD:1343872 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20199538|PMID:20301543|PMID:25741868|PMID:26743602|PMID:28492532|PMID:28561874|PMID:31579952|PMID:7537780|PMID:7688477|PMID:9036937 9035274 Krt5 keratin 5 gene DOID:9002815 Generalized Severe Epidermolysis Bullosa Simplex 2A ISO RGD:1343872 D RGD:7240710 20211110 OMIM 9035274 Krt5 keratin 5 gene DOID:9002815 Generalized Severe Epidermolysis Bullosa Simplex 2A ISO RGD:1343872 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe PMID:10234505|PMID:10383750|PMID:1372711|PMID:16098032|PMID:16601668|PMID:16882168|PMID:20030639|PMID:20301543|PMID:25741868|PMID:26743602|PMID:28492532|PMID:28561874|PMID:31579952|PMID:8757772|PMID:9036937 9035274 Krt5 keratin 5 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9035274 Krt5 keratin 5 gene DOID:9004270 Generalized Epidermolysis Bullosa Simplex 2B ISO RGD:1343872 D RGD:7240710 20211110 OMIM 9035274 Krt5 keratin 5 gene DOID:9004270 Generalized Epidermolysis Bullosa Simplex 2B ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate PMID:11407988|PMID:11407989|PMID:16882168|PMID:17039244|PMID:1718160|PMID:25741868|PMID:28492532|PMID:34680898|PMID:7534039|PMID:7686424|PMID:9740251 9035274 Krt5 keratin 5 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9035274 Krt5 keratin 5 gene DOID:9006734 Dowling-Degos Disease 1 ISO RGD:1343872 D RGD:7240710 20221005 OMIM 9035274 Krt5 keratin 5 gene DOID:9006734 Dowling-Degos Disease 1 ISO RGD:1343872 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Dowling-Degos disease 1 PMID:14674915|PMID:16465624|PMID:20222933|PMID:22005030|PMID:25741868|PMID:28492532|PMID:3188604 9035274 Krt5 keratin 5 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22011395 9035274 Krt5 keratin 5 gene DOID:9008678 Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema ISO RGD:1343872 D RGD:7240710 20180130 OMIM 9035274 Krt5 keratin 5 gene DOID:9008678 Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema ISO RGD:1343872 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema PMID:12925204|PMID:15324323|PMID:15647384|PMID:15982306|PMID:20055872|PMID:20301543|PMID:23889190|PMID:24104543|PMID:25741868|PMID:27730678|PMID:28492532|PMID:29180315|PMID:31965605|PMID:7520042|PMID:8807337|PMID:9036937 9035274 Krt5 keratin 5 gene DOID:9008939 Breast Neoplasms ISO RGD:1343872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 9035296 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 9035296 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9035296 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:182 calcinosis ISO RGD:1315237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 9035296 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:1826 epilepsy ISO RGD:1315237 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9035296 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:630 genetic disease ISO RGD:1315237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9035296 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:679 basal ganglia disease ISO RGD:1315237 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25938945 9035296 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9005299 Idiopathic Basal Ganglia Calcification 6 ISO RGD:1315237 D RGD:7240710 20180130 OMIM 9035296 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9005299 Idiopathic Basal Ganglia Calcification 6 ISO RGD:1315237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification PMID:25741868|PMID:25938945|PMID:28492532|PMID:31003906|PMID:886353 9035296 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 9035296 Xpr1 xenotropic and polytropic retrovirus receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9035323 Sirt6 sirtuin 6 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:1305216 D RGD:9068941 20200609 RGD PMID:21373642|REF_RGD_ID:6484527 9035323 Sirt6 sirtuin 6 gene DOID:10763 hypertension exacerbates ISO RGD:1313111 D RGD:9068941 20221006 RGD PMID:30894089|REF_RGD_ID:155260334 9035323 Sirt6 sirtuin 6 gene DOID:12932 endomyocardial fibrosis ISO RGD:1313110 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34713381 9035323 Sirt6 sirtuin 6 gene DOID:13938 amenorrhea ISO RGD:1313110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9035323 Sirt6 sirtuin 6 gene DOID:224 transient cerebral ischemia ISO RGD:1305216 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:23899523|REF_RGD_ID:9586062 9035323 Sirt6 sirtuin 6 gene DOID:2843 long QT syndrome ISO RGD:1313110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 9035323 Sirt6 sirtuin 6 gene DOID:3911 progeria ISO RGD:1313111 D RGD:9068941 20220825 MouseDO OMIM:176670 9035323 Sirt6 sirtuin 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1313110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9035323 Sirt6 sirtuin 6 gene DOID:630 genetic disease ISO RGD:1313110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035323 Sirt6 sirtuin 6 gene DOID:9000784 Fibrosis ISO RGD:1313110 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:35798905 9035323 Sirt6 sirtuin 6 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1313110 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34713381 9035323 Sirt6 sirtuin 6 gene DOID:9002371 Cardiotoxicity ISO RGD:1313110 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34713381 9035323 Sirt6 sirtuin 6 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:1313110 D RGD:9068941 20221006 RGD protein:decreased expression:kidney PMID:30894089|REF_RGD_ID:155260334 9035323 Sirt6 sirtuin 6 gene DOID:9003936 Cardiomegaly ISO RGD:1305216 D RGD:9068941 20200609 RGD PMID:22335191|REF_RGD_ID:9586060 9035323 Sirt6 sirtuin 6 gene DOID:9003936 Cardiomegaly ISO RGD:1313110 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:22335191|PMID:35798905 9035323 Sirt6 sirtuin 6 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1313110 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism PMID:35798905 9035323 Sirt6 sirtuin 6 gene DOID:9007174 Ventricular Remodeling ISO RGD:1313110 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34713381 9035323 Sirt6 sirtuin 6 gene DOID:9452 steatotic liver disease ISO RGD:1313110 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28536482 9035323 Sirt6 sirtuin 6 gene DOID:9970 obesity ISO RGD:1305216 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:24135502|REF_RGD_ID:9586064 9035341 Gpr139 G protein-coupled receptor 139 gene DOID:630 genetic disease ISO RGD:1323337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035347 Setd9 SET domain containing 9 gene DOID:3070 high grade glioma ISO RGD:1602299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9035347 Setd9 SET domain containing 9 gene DOID:630 genetic disease ISO RGD:1602299 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035347 Setd9 SET domain containing 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9035358 Fev FEV transcription factor, ETS family member gene DOID:0060041 autism spectrum disorder ISO RGD:1351543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 9035358 Fev FEV transcription factor, ETS family member gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 9035358 Fev FEV transcription factor, ETS family member gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 9035358 Fev FEV transcription factor, ETS family member gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 9035358 Fev FEV transcription factor, ETS family member gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 9035358 Fev FEV transcription factor, ETS family member gene DOID:630 genetic disease ISO RGD:1351543 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035358 Fev FEV transcription factor, ETS family member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9035358 Fev FEV transcription factor, ETS family member gene DOID:9007102 Myocardial Ischemia ISO RGD:1351543 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9035366 Maneal mannosidase endo-alpha like gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1604520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9035366 Maneal mannosidase endo-alpha like gene DOID:630 genetic disease ISO RGD:1604520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035373 Arf4 ADP ribosylation factor 4 gene DOID:630 genetic disease ISO RGD:1352328 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035373 Arf4 ADP ribosylation factor 4 gene DOID:9004857 Pyruvate Dehydrogenase E1-Beta Deficiency ISO RGD:1352328 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency PMID:28492532 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:0080600 COVID-19 ISO RGD:1353194 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:0080784 urinary tract infection ISO RGD:1353194 D RGD:9068941 20200609 RGD PMID:21151974|REF_RGD_ID:7207862 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:11400 pyelonephritis ISO RGD:1353194 D RGD:9068941 20200609 RGD DNA:SNP: :2608G>C (human) PMID:22325052|REF_RGD_ID:7207860 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:11400 pyelonephritis ISO RGD:1353194 D RGD:9068941 20200609 RGD DNA:mutations, polymorphisms: :multiple PMID:17786197|REF_RGD_ID:7207864 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:2905 D RGD:9068941 20200609 RGD PMID:23336303|REF_RGD_ID:7207859 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:4947 cholangiocarcinoma ISO RGD:1353194 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cholangiocarcinoma PMID:18550579 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353194 D RGD:7240710 20230505 OMIM 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:25741868 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:630 genetic disease ISO RGD:1353194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:783 end stage renal disease ISO RGD:1353194 D RGD:9068941 20200609 RGD PMID:20649681|REF_RGD_ID:7207863 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:8577 ulcerative colitis ISO RGD:1353194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21297633 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:9004283 Transplant Rejection ISO RGD:1353194 D RGD:9068941 20200609 RGD DNA:SNP:promoter:g.-2668G>A (rs2671222) (human) PMID:21452410|REF_RGD_ID:7257676 9035385 Cxcr1 C-X-C motif chemokine receptor 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:0050851 glomerulosclerosis treatment ISO RGD:737511 D RGD:9068941 20201225 RGD PMID:22125642|REF_RGD_ID:40902998 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:0050855 renal fibrosis treatment ISO RGD:737511 D RGD:9068941 20200911 RGD associated with primary hyperaldosteronism PMID:24108235|REF_RGD_ID:38599161 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:732787 D RGD:9068941 20200806 RGD DNA:mutations:multiple (human) PMID:11317351|REF_RGD_ID:737766 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:1074 kidney failure severity ISO RGD:620460 D RGD:9068941 20200910 RGD protein:decreased expression:kidney (rat) PMID:18346151|REF_RGD_ID:38599007 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:10976 membranous glomerulonephritis ISO RGD:620460 D RGD:9068941 20200609 RGD PMID:15882266|REF_RGD_ID:1598706 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:1184 nephrotic syndrome ISO RGD:737511 D RGD:9068941 20200910 RGD mRNA,protein:decreased expression:podocyte (mouse) PMID:22493483|REF_RGD_ID:38599005 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:1184 nephrotic syndrome ISO RGD:737511 D RGD:9068941 20220825 MouseDO OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:1184 nephrotic syndrome treatment ISO RGD:620460 D RGD:9068941 20200609 RGD PMID:15942045|REF_RGD_ID:1598707 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:732787 D RGD:9068941 20210820 RGD protein:decreased expression:kidney,renal glomerulus (human) PMID:30900988|REF_RGD_ID:15023481 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:1312 focal segmental glomerulosclerosis disease_progression ISO RGD:732787 D RGD:9068941 20200903 RGD mRNA:increased expression:urine (human) PMID:21414970|REF_RGD_ID:38549367 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:576 proteinuria ISO RGD:737511 D RGD:9068941 20200609 RGD PMID:12039968|REF_RGD_ID:737765 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:783 end stage renal disease disease_progression ISO RGD:620460 D RGD:9068941 20200910 RGD mRNA;increased expression:urine (rat) PMID:19389856|REF_RGD_ID:38599006 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:784 chronic kidney disease severity ISO RGD:732787 D RGD:9068941 20200903 RGD mRNA:increased expression:urine (human) PMID:30133147|REF_RGD_ID:38549368 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:784 chronic kidney disease treatment ISO RGD:732787 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9002165 Diabetic Nephropathies ISO RGD:737511 D RGD:9068941 20200910 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:kidney (mouse) PMID:21617141|REF_RGD_ID:7241083 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620460 D RGD:9068941 20200903 RGD associated with Diabetes Mellitus, Experimental PMID:17624267|REF_RGD_ID:38596322 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:737511 D RGD:9068941 20200903 RGD PMID:30862474|REF_RGD_ID:38596325 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:737511 D RGD:9068941 20200910 RGD associated with Diabetes Mellitus, Experimental PMID:24173355|REF_RGD_ID:38599008 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9004797 Fetal Nutrition Disorders ISO RGD:620460 D RGD:9068941 20230202 RGD associated with maternal low protein diet; protein:decreased expression:kidney (rat) PMID:23977013|REF_RGD_ID:155882570 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:620460 D RGD:9068941 20200911 RGD mRNA, protein:altered expression:glomerulus (rat) PMID:21876538|REF_RGD_ID:38599163 9035395 Nphs1 NPHS1 adhesion molecule, nephrin gene DOID:9008782 AIDS-Associated Nephropathy treatment ISO RGD:737511 D RGD:9068941 20200911 RGD PMID:17229913|PMID:19188342|REF_RGD_ID:38596324|REF_RGD_ID:38599164 9035429 Ncbp3 nuclear cap binding subunit 3 gene DOID:3613 Canavan disease ISO RGD:1604808 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:19932039|PMID:28492532 9035429 Ncbp3 nuclear cap binding subunit 3 gene DOID:630 genetic disease ISO RGD:1604808 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035459 Steap4 STEAP4 metalloreductase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347045 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9035459 Steap4 STEAP4 metalloreductase gene DOID:630 genetic disease ISO RGD:1347045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035459 Steap4 STEAP4 metalloreductase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9035459 Steap4 STEAP4 metalloreductase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347045 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25320179 9035468 Slc29a1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:0050741 alcohol dependence ISO RGD:62192 D RGD:9068941 20220825 MouseDO OMIM:103780 9035468 Slc29a1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:1098 fetal erythroblastosis ISO RGD:737565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal Erythroblastosis 9035468 Slc29a1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:12858 Huntington's disease ISO RGD:737565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27567601 9035468 Slc29a1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:1793 pancreatic cancer ISO RGD:737565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18728667 9035468 Slc29a1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:2316 brain ischemia ISO RGD:61899 D RGD:9068941 20200609 RGD PMID:15829178|REF_RGD_ID:2316942 9035468 Slc29a1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:737565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 9035468 Slc29a1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:630 genetic disease ISO RGD:737565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035468 Slc29a1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:6652 diffuse idiopathic skeletal hyperostosis ISO RGD:62192 D RGD:9068941 20220825 MouseDO OMIM:106400 9035468 Slc29a1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:9004120 Alcohol Withdrawal Seizures ISO RGD:737565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21283641 9035468 Slc29a1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:61899 D RGD:9068941 20200609 RGD mRNA:decreased expression:cardiac muscle cell PMID:16873415|REF_RGD_ID:2316941 9035468 Slc29a1 solute carrier family 29 member 1 (Augustine blood group) gene DOID:9006205 Animal Disease Models ISO RGD:737565 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27567601 9035538 Hmcn2 hemicentin 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1626387 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9035646 Spry3 sprouty RTK signaling antagonist 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:1349769 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 9035646 Spry3 sprouty RTK signaling antagonist 3 gene DOID:12849 autistic disorder ISO RGD:1349769 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Epsilon-trimethyllysine hydroxylase deficiency PMID:21681106|PMID:21865298|PMID:22566635|PMID:23092983|PMID:30208311 9035646 Spry3 sprouty RTK signaling antagonist 3 gene DOID:3070 high grade glioma ISO RGD:1349769 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ependymoma 9035646 Spry3 sprouty RTK signaling antagonist 3 gene DOID:9002720 Splenomegaly ISO RGD:1349769 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 9035656 Taf13 TATA-box binding protein associated factor 13 gene DOID:0081222 autosomal recessive intellectual developmental disorder 60 ISO RGD:1313406 D RGD:7240710 20190315 OMIM 9035656 Taf13 TATA-box binding protein associated factor 13 gene DOID:0081222 autosomal recessive intellectual developmental disorder 60 ISO RGD:1313406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 60 PMID:25741868|PMID:28257693 9035656 Taf13 TATA-box binding protein associated factor 13 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1313406 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 9035656 Taf13 TATA-box binding protein associated factor 13 gene DOID:12849 autistic disorder ISO RGD:1313406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9035656 Taf13 TATA-box binding protein associated factor 13 gene DOID:5419 schizophrenia ISO RGD:1313406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9035656 Taf13 TATA-box binding protein associated factor 13 gene DOID:630 genetic disease ISO RGD:1313406 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035663 Sh3d19 SH3 domain containing 19 gene DOID:4990 essential tremor ISO RGD:1605862 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor PMID:33279834 9035663 Sh3d19 SH3 domain containing 19 gene DOID:630 genetic disease ISO RGD:1605862 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035698 Fkbp8 FKBP prolyl isomerase 8 gene DOID:0080016 spina bifida ISO RGD:1318579 D RGD:9068941 20220825 MouseDO 9035698 Fkbp8 FKBP prolyl isomerase 8 gene DOID:11836 clubfoot ISO RGD:1318579 D RGD:9068941 20220825 MouseDO OMIM:119800 9035698 Fkbp8 FKBP prolyl isomerase 8 gene DOID:630 genetic disease ISO RGD:1318578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035698 Fkbp8 FKBP prolyl isomerase 8 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1318578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9035698 Fkbp8 FKBP prolyl isomerase 8 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1318578 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 9035741 Tshr thyroid stimulating hormone receptor gene DOID:0050328 congenital hypothyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:11442002|PMID:15693879|PMID:16756469|PMID:17526952|PMID:19158199|PMID:19506388|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22405933|PMID:22876533|PMID:23926367|PMID:24033266|PMID:24895636|PMID:25741868|PMID:26709262|PMID:27084275|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:30083029|PMID:31356790 9035741 Tshr thyroid stimulating hormone receptor gene DOID:0050700 cardiomyopathy ISO RGD:737021 D RGD:9068941 20200609 RGD PMID:8796147|REF_RGD_ID:1580777 9035741 Tshr thyroid stimulating hormone receptor gene DOID:0070126 congenital nongoitrous hypothyroidism 1 ISO RGD:737021 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 PMID:10037069|PMID:10560953|PMID:10720030|PMID:10870027|PMID:11095460|PMID:11442002|PMID:12050212|PMID:12629076|PMID:14725684|PMID:15514085|PMID:15693879|PMID:16060907|PMID:16756469|PMID:17062880|PMID:17524032|PMID:17526952|PMID:17705697|PMID:17953807|PMID:18379122|PMID:18727713|PMID:18850313|PMID:19158199|PMID:19221175|PMID:19240155|PMID:19506388|PMID:1955520|PMID:19820021|PMID:20652618|PMID:20718767|PMID:20736161|PMID:21186955|PMID:21490078|PMID:21586576|PMID:21642385|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22112806|PMID:22359649|PMID:22405933|PMID:22876533|PMID:23329763|PMID:23356285|PMID:23535966|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25248169|PMID:25557138|PMID:25741868|PMID:26709262|PMID:26864598|PMID:27060741|PMID:27084275|PMID:27255745|PMID:27578510|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:28561265|PMID:29092890|PMID:30083029|PMID:30240412|PMID:30372544|PMID:31356790|PMID:32368696|PMID:32469330|PMID:34780050|PMID:36913313|PMID:7528344|PMID:8681963|PMID:8954020|PMID:8964822|PMID:9100579|PMID:9185526|PMID:9329388|PMID:9385128|PMID:9589634|PMID:9589691 9035741 Tshr thyroid stimulating hormone receptor gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:737021 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868 9035741 Tshr thyroid stimulating hormone receptor gene DOID:0081101 nonautoimmune hyperthyroidism ISO RGD:737021 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune | ClinVar Annotator: match by term: TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT PMID:10037069|PMID:10199795|PMID:10560953|PMID:10870027|PMID:11442002|PMID:11549687|PMID:12050212|PMID:12629076|PMID:14725684|PMID:15514085|PMID:15693879|PMID:15876166|PMID:16060907|PMID:16106256|PMID:16756469|PMID:16756474|PMID:17062880|PMID:17524032|PMID:17526952|PMID:17705697|PMID:17953807|PMID:18379122|PMID:18727713|PMID:18850313|PMID:19158199|PMID:19221175|PMID:19240155|PMID:19506388|PMID:1955520|PMID:19820021|PMID:20652618|PMID:20718767|PMID:20736161|PMID:21186955|PMID:21490078|PMID:21586576|PMID:21642385|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22112806|PMID:22359649|PMID:22405933|PMID:22876533|PMID:23329763|PMID:23356285|PMID:23535966|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25248169|PMID:25557138|PMID:25741868|PMID:26709262|PMID:27060741|PMID:27084275|PMID:27255745|PMID:27578510|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:28561265|PMID:29092890|PMID:30083029|PMID:30240412|PMID:30372544|PMID:31356790|PMID:32368696|PMID:7124278|PMID:7528344|PMID:7800007|PMID:7920658|PMID:8681963|PMID:8954020|PMID:8964822|PMID:9100579|PMID:9185526|PMID:9253356|PMID:9329388|PMID:9360555|PMID:9360556|PMID:9385128|PMID:9398746|PMID:9589634|PMID:9589691 9035741 Tshr thyroid stimulating hormone receptor gene DOID:0081102 familial gestational hyperthyroidism ISO RGD:737021 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial gestational hyperthyroidism PMID:10560953|PMID:11442002|PMID:12050212|PMID:15693879|PMID:16060907|PMID:16756469|PMID:17526952|PMID:19158199|PMID:19506388|PMID:21490078|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22405933|PMID:22876533|PMID:23329763|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25557138|PMID:25741868|PMID:26709262|PMID:27084275|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:30083029|PMID:30240412|PMID:31356790|PMID:7528344|PMID:8636266|PMID:8681963|PMID:8954020|PMID:8964822|PMID:9329388|PMID:9360555|PMID:9589691 9035741 Tshr thyroid stimulating hormone receptor gene DOID:0081120 Graves ophthalmopathy ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31705858 9035741 Tshr thyroid stimulating hormone receptor gene DOID:0081120 Graves ophthalmopathy ISO RGD:737021 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs179247 (human) PMID:22673349|REF_RGD_ID:8548662 9035741 Tshr thyroid stimulating hormone receptor gene DOID:0081120 Graves ophthalmopathy severity ISO RGD:737021 D RGD:9068941 20200609 RGD PMID:20237164|REF_RGD_ID:8548673 9035741 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:11458 D RGD:9068941 20230506 RGD PMID:23538203|REF_RGD_ID:8548657 9035741 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 CTD CTD Direct Evidence: marker/mechanism PMID:1955520|PMID:21841780 9035741 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD PMID:7828357|PMID:9528975|REF_RGD_ID:8548663|REF_RGD_ID:8548669 9035741 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD DNA, mRNA:SNPs, decreased expression:promoter, intron, thymus:rs179247, rs2268458, rs2371462 (human) PMID:21642385|REF_RGD_ID:8548654 9035741 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD DNA:SNPs: :multiple PMID:19244275|REF_RGD_ID:8548656 9035741 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD DNA:SNPs:intron:rs179247, rs12101255 (human) PMID:21124799|REF_RGD_ID:8548655 9035741 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease ISO RGD:737021 D RGD:9068941 20230506 RGD DNA:polymorphism: :pD727E (human) PMID:11887032|REF_RGD_ID:8548661 9035741 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease no_association ISO RGD:737021 D RGD:9068941 20200609 RGD DNA:SNPs:intron:rs179247, rs12101255 and rs2268458 (human) PMID:21155717|REF_RGD_ID:8548665 9035741 Tshr thyroid stimulating hormone receptor gene DOID:12361 Graves' disease treatment ISO RGD:737021 D RGD:9068941 20200609 RGD PMID:24518168|REF_RGD_ID:8548664 9035741 Tshr thyroid stimulating hormone receptor gene DOID:1459 hypothyroidism ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:19240155|PMID:19820021|PMID:22049173|PMID:25557138|PMID:25741868|PMID:27060741|PMID:28492532|PMID:28561265 9035741 Tshr thyroid stimulating hormone receptor gene DOID:1612 breast cancer ISO RGD:737021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:19240155|PMID:19820021|PMID:22049173|PMID:25557138|PMID:25741868|PMID:27060741|PMID:28492532|PMID:28561265 9035741 Tshr thyroid stimulating hormone receptor gene DOID:1826 epilepsy ISO RGD:737021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:12050212|PMID:25741868|PMID:8964822 9035741 Tshr thyroid stimulating hormone receptor gene DOID:2394 ovarian cancer ISO RGD:737021 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:11442002|PMID:15693879|PMID:16756469|PMID:17526952|PMID:19158199|PMID:19506388|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22405933|PMID:22876533|PMID:23926367|PMID:24033266|PMID:24895636|PMID:25248169|PMID:25741868|PMID:26709262|PMID:27084275|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:30022773|PMID:30083029|PMID:31356790|PMID:32425884|PMID:33179747|PMID:34374102|PMID:34377013|PMID:36125728 9035741 Tshr thyroid stimulating hormone receptor gene DOID:305 carcinoma ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 9035741 Tshr thyroid stimulating hormone receptor gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:737021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9035741 Tshr thyroid stimulating hormone receptor gene DOID:630 genetic disease ISO RGD:737021 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10560953|PMID:12629076|PMID:14725684|PMID:16060907|PMID:17524032|PMID:17705697|PMID:18727713|PMID:19240155|PMID:19820021|PMID:20718767|PMID:21186955|PMID:21642385|PMID:22049173|PMID:22112806|PMID:22876533|PMID:25557138|PMID:25741868|PMID:27060741|PMID:27255745|PMID:27637299|PMID:28492532|PMID:28561265|PMID:29092890|PMID:29546359|PMID:30372544|PMID:32368696|PMID:32425884|PMID:34276565|PMID:34374102|PMID:8954020|PMID:9100579|PMID:9185526 9035741 Tshr thyroid stimulating hormone receptor gene DOID:657 adenoma ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8413627 9035741 Tshr thyroid stimulating hormone receptor gene DOID:7188 autoimmune thyroiditis ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17952073 9035741 Tshr thyroid stimulating hormone receptor gene DOID:7997 thyrotoxicosis ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 9035741 Tshr thyroid stimulating hormone receptor gene DOID:7998 hyperthyroidism ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7800007|PMID:8413627|PMID:8964822 9035741 Tshr thyroid stimulating hormone receptor gene DOID:9000081 Lymphatic Metastasis ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 9035741 Tshr thyroid stimulating hormone receptor gene DOID:9000362 Adrenal Gland Neoplasms ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19131502 9035741 Tshr thyroid stimulating hormone receptor gene DOID:9000591 Congenital Nongoitrous Hypothyroidism ISO RGD:737021 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE | ClinVar Annotator: match by term: TSH RESISTANCE PMID:10037069|PMID:10560953|PMID:10720030|PMID:10870027|PMID:11095460|PMID:11442002|PMID:12050212|PMID:12629076|PMID:14725684|PMID:15514085|PMID:15693879|PMID:16060907|PMID:16756469|PMID:17062880|PMID:17524032|PMID:17526952|PMID:17705697|PMID:17953807|PMID:18379122|PMID:18727713|PMID:18850313|PMID:19158199|PMID:19221175|PMID:19240155|PMID:19506388|PMID:1955520|PMID:19820021|PMID:20652618|PMID:20718767|PMID:20736161|PMID:21186955|PMID:21490078|PMID:21586576|PMID:21642385|PMID:21677043|PMID:21707688|PMID:21714469|PMID:22049173|PMID:22112806|PMID:22359649|PMID:22405933|PMID:22876533|PMID:23329763|PMID:23356285|PMID:23535966|PMID:23926367|PMID:24033266|PMID:24728327|PMID:24895636|PMID:25248169|PMID:25557138|PMID:25741868|PMID:26709262|PMID:26864598|PMID:27060741|PMID:27084275|PMID:27255745|PMID:27578510|PMID:27637299|PMID:28444304|PMID:28455095|PMID:28492532|PMID:28561265|PMID:29092890|PMID:30083029|PMID:30240412|PMID:30372544|PMID:31356790|PMID:32368696|PMID:32469330|PMID:34780050|PMID:36913313|PMID:7528344|PMID:8681963|PMID:8954020|PMID:8964822|PMID:9100579|PMID:9185526|PMID:9329388|PMID:9385128|PMID:9589634|PMID:9589691 9035741 Tshr thyroid stimulating hormone receptor gene DOID:9004547 Thyroid Neoplasms ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8413627|PMID:9062474 9035741 Tshr thyroid stimulating hormone receptor gene DOID:9005172 Lung Neoplasms ISO RGD:737021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9062474 9035741 Tshr thyroid stimulating hormone receptor gene DOID:9005447 Hyperfunctioning Thyroid Adenoma ISO RGD:737021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thyroid adenoma, hyperfunctioning PMID:7800007|PMID:8413627|PMID:9253356|PMID:9360556|PMID:9398746 9035741 Tshr thyroid stimulating hormone receptor gene DOID:9007355 Hashimoto Disease ISO RGD:737021 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3783938 (human) PMID:22673349|REF_RGD_ID:8548662 9035741 Tshr thyroid stimulating hormone receptor gene DOID:9008086 Developmental Disabilities ISO RGD:737021 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:12050212|PMID:25741868|PMID:8964822 9035741 Tshr thyroid stimulating hormone receptor gene DOID:988 mitral valve prolapse ISO RGD:737021 D RGD:9068941 20200609 RGD PMID:10199795|REF_RGD_ID:1580775 9035762 Kbtbd11 kelch repeat and BTB domain containing 11 gene DOID:630 genetic disease ISO RGD:1604839 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035762 Kbtbd11 kelch repeat and BTB domain containing 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1604839 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9035769 Rbm24 RNA binding motif protein 24 gene DOID:12930 dilated cardiomyopathy ISO RGD:1614519 D RGD:9068941 20221229 MouseDO 9035769 Rbm24 RNA binding motif protein 24 gene DOID:630 genetic disease ISO RGD:1317276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035788 Znf512b zinc finger protein 512B gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1606523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9035788 Znf512b zinc finger protein 512B gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1606523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9035788 Znf512b zinc finger protein 512B gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1606523 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9035788 Znf512b zinc finger protein 512B gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1606523 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 9035788 Znf512b zinc finger protein 512B gene DOID:630 genetic disease ISO RGD:1606523 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035824 Tm2d2 TM2 domain containing 2 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:1602456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 9035824 Tm2d2 TM2 domain containing 2 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:1602456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 9035824 Tm2d2 TM2 domain containing 2 gene DOID:607 paraplegia ISO RGD:1602456 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 9035824 Tm2d2 TM2 domain containing 2 gene DOID:630 genetic disease ISO RGD:1602456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035835 Dcaf5 DDB1 and CUL4 associated factor 5 gene DOID:630 genetic disease ISO RGD:1315207 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035854 Kiaa1958 KIAA1958 ortholog gene DOID:0080600 COVID-19 ISO RGD:1322143 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9035854 Kiaa1958 KIAA1958 ortholog gene DOID:630 genetic disease ISO RGD:1322143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035870 Mtnap1 mitochondrial nucleoid associated protein 1 gene DOID:10283 prostate cancer ISO RGD:1602883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 9035870 Mtnap1 mitochondrial nucleoid associated protein 1 gene DOID:630 genetic disease ISO RGD:1602883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035889 Znf213 zinc finger protein 213 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9035889 Znf213 zinc finger protein 213 gene DOID:1826 epilepsy ISO RGD:1314237 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9035889 Znf213 zinc finger protein 213 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314237 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9035889 Znf213 zinc finger protein 213 gene DOID:630 genetic disease ISO RGD:1314237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035918 Reps2 RALBP1 associated Eps domain containing 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9035918 Reps2 RALBP1 associated Eps domain containing 2 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1347143 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 9035918 Reps2 RALBP1 associated Eps domain containing 2 gene DOID:12849 autistic disorder ISO RGD:1347143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9035918 Reps2 RALBP1 associated Eps domain containing 2 gene DOID:630 genetic disease ISO RGD:1347143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035918 Reps2 RALBP1 associated Eps domain containing 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9035918 Reps2 RALBP1 associated Eps domain containing 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1347143 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19776672 9035953 Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:630 genetic disease ISO RGD:735555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035953 Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9001553 Spinal Cord Compression ISO RGD:70970 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord, thoracic vertebrae (rat) PMID:20399821|REF_RGD_ID:2326108 9035953 Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9035953 Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:70970 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:18452227|REF_RGD_ID:2302233 9035953 Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene DOID:9970 obesity ISO RGD:70970 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:1685984|REF_RGD_ID:2326155 9035971 Plagl1 PLAG1 like zinc finger 1 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:736872 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 9035971 Plagl1 PLAG1 like zinc finger 1 gene DOID:2661 myoepithelioma ISO RGD:736872 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9035971 Plagl1 PLAG1 like zinc finger 1 gene DOID:630 genetic disease ISO RGD:736872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9035971 Plagl1 PLAG1 like zinc finger 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:736872 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9035982 Mnx1 motor neuron and pancreas homeobox 1 gene DOID:0110875 holoprosencephaly 3 ISO RGD:1344566 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110 9035982 Mnx1 motor neuron and pancreas homeobox 1 gene DOID:0111546 Currarino syndrome ISO RGD:1344566 D RGD:7240710 20180130 OMIM 9035982 Mnx1 motor neuron and pancreas homeobox 1 gene DOID:0111546 Currarino syndrome ISO RGD:1344566 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:10631160|PMID:10749657|PMID:11528505|PMID:16906559|PMID:18449898|PMID:24095820|PMID:25741868|PMID:28492532|PMID:29401559|PMID:32571425|PMID:33836786|PMID:7550324|PMID:9843207 9035982 Mnx1 motor neuron and pancreas homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1344566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9035982 Mnx1 motor neuron and pancreas homeobox 1 gene DOID:630 genetic disease ISO RGD:1344566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29401559 9035996 Tmem255a transmembrane protein 255A gene DOID:0050437 Danon disease ISO RGD:1605993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 9035996 Tmem255a transmembrane protein 255A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9035996 Tmem255a transmembrane protein 255A gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1605993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 9035996 Tmem255a transmembrane protein 255A gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1605993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 9035996 Tmem255a transmembrane protein 255A gene DOID:12849 autistic disorder ISO RGD:1605993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9035996 Tmem255a transmembrane protein 255A gene DOID:630 genetic disease ISO RGD:1605993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036016 Noc2l NOC2 like nucleolar associated transcriptional repressor gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9036016 Noc2l NOC2 like nucleolar associated transcriptional repressor gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1606804 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 9036016 Noc2l NOC2 like nucleolar associated transcriptional repressor gene DOID:0110994 Joubert syndrome 25 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9036016 Noc2l NOC2 like nucleolar associated transcriptional repressor gene DOID:0111934 immunodeficiency 38 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9036016 Noc2l NOC2 like nucleolar associated transcriptional repressor gene DOID:0111935 immunodeficiency 16 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9036016 Noc2l NOC2 like nucleolar associated transcriptional repressor gene DOID:630 genetic disease ISO RGD:1606804 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036016 Noc2l NOC2 like nucleolar associated transcriptional repressor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606804 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9036016 Noc2l NOC2 like nucleolar associated transcriptional repressor gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1606804 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9036056 Exosc7 exosome component 7 gene DOID:630 genetic disease ISO RGD:1320266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036076 Extl1 exostosin like glycosyltransferase 1 gene DOID:0090105 autosomal recessive hypercholesterolemia ISO RGD:1319981 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 PMID:11326085|PMID:12464675|PMID:28492532 9036076 Extl1 exostosin like glycosyltransferase 1 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1319981 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 9036076 Extl1 exostosin like glycosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1319981 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036076 Extl1 exostosin like glycosyltransferase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1319981 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9036102 Rab29 RAB29, member RAS oncogene family gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736472 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9036102 Rab29 RAB29, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:736472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9036102 Rab29 RAB29, member RAS oncogene family gene DOID:1540 parathyroid carcinoma ISO RGD:736472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9036102 Rab29 RAB29, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:736472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036102 Rab29 RAB29, member RAS oncogene family gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736472 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9036102 Rab29 RAB29, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9036136 Orc6 origin recognition complex subunit 6 gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868 9036136 Orc6 origin recognition complex subunit 6 gene DOID:0060897 Parkinson's disease 17 ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson disease 17 PMID:28492532 9036136 Orc6 origin recognition complex subunit 6 gene DOID:0080514 Meier-Gorlin syndrome 3 ISO RGD:1322900 D RGD:7240710 20190424 OMIM 9036136 Orc6 origin recognition complex subunit 6 gene DOID:0080514 Meier-Gorlin syndrome 3 ISO RGD:1322900 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 PMID:16199547|PMID:17576681|PMID:18414213|PMID:21358632|PMID:22333897|PMID:25691413|PMID:25741868|PMID:28492532|PMID:7710253|PMID:9536098 9036136 Orc6 origin recognition complex subunit 6 gene DOID:0111041 glycogen storage disease IXB ISO RGD:1322900 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 9036136 Orc6 origin recognition complex subunit 6 gene DOID:14330 Parkinson's disease ISO RGD:1322900 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Dominant PMID:25741868 9036136 Orc6 origin recognition complex subunit 6 gene DOID:630 genetic disease ISO RGD:1322900 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:28492532 9036153 Brms1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:0070133 autosomal recessive cutis laxa type IB ISO RGD:1322310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B PMID:28492532 9036153 Brms1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 PMID:22219654|PMID:28492532 9036153 Brms1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:1059 intellectual disability ISO RGD:1322310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9036153 Brms1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9036153 Brms1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:2746 glycogen storage disease V ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9036153 Brms1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:3008 invasive ductal carcinoma disease_progression ISO RGD:1322310 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors PMID:15592684|REF_RGD_ID:2289400 9036153 Brms1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:630 genetic disease ISO RGD:1322310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036153 Brms1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27501413 9036153 Brms1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1322310 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9036153 Brms1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27501413 9036153 Brms1 BRMS1 transcriptional repressor and anoikis regulator gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1322310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 9036180 Ilkap ILK associated serine/threonine phosphatase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:731849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9036180 Ilkap ILK associated serine/threonine phosphatase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:731849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9036180 Ilkap ILK associated serine/threonine phosphatase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:731849 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 9036180 Ilkap ILK associated serine/threonine phosphatase gene DOID:1059 intellectual disability ISO RGD:731849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9036180 Ilkap ILK associated serine/threonine phosphatase gene DOID:630 genetic disease ISO RGD:731849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036180 Ilkap ILK associated serine/threonine phosphatase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:731849 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:10652 Alzheimer's disease ISO RGD:731021 D RGD:9068941 20200609 RGD protein:altered expression:synaptosome: PMID:21382638|REF_RGD_ID:13628395 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:10763 hypertension ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:16343576|REF_RGD_ID:1598724 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:10763 hypertension ISO RGD:731021 D RGD:9068941 20200609 RGD DNA:SNP: :1784C>T PMID:15824464|REF_RGD_ID:1580586 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:10763 hypertension ISO RGD:731021 D RGD:9068941 20200609 RGD DNA:snps:intron:g.-23200T>C, g.-23181T>C (human) PMID:15785003|REF_RGD_ID:1580732 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:11372 megacolon ISO RGD:731021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:12930 dilated cardiomyopathy ISO RGD:731022 D RGD:9068941 20200609 RGD PMID:23436819|REF_RGD_ID:10053661 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:1824 status epilepticus ISO RGD:3717 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:15461673|REF_RGD_ID:2316980 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:1824 status epilepticus ISO RGD:731021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20888801 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:2316 brain ischemia ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:22036625|REF_RGD_ID:6771236 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:2316 brain ischemia ISO RGD:3717 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (rat) PMID:12377375|REF_RGD_ID:727449 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:2316 brain ischemia ISO RGD:3717 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17662498|REF_RGD_ID:1642717 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:3883 Lynch syndrome ISO RGD:731021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:6000 congestive heart failure ISO RGD:3717 D RGD:9068941 20200609 RGD protein:increased expression:cardiac muscle cell PMID:17536604|REF_RGD_ID:1642720 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:630 genetic disease ISO RGD:731021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:6432 pulmonary hypertension ISO RGD:731021 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery, smooth muscle cell PMID:17192285|REF_RGD_ID:1642711 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:9003936 Cardiomegaly ISO RGD:3717 D RGD:9068941 20200609 RGD associated with Hypertension;protein:decreased activity:heart left ventricle, cardiac muscle cell PMID:15615841|REF_RGD_ID:1642713 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:9003936 Cardiomegaly ISO RGD:731022 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:heart PMID:17446477|REF_RGD_ID:1642725 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:9004009 Reperfusion Injury ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:18037393|REF_RGD_ID:2316975 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3717 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:cardiac muscle cell PMID:10944172|REF_RGD_ID:1642714 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:27058979|REF_RGD_ID:13628396 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:9007102 Myocardial Ischemia ISO RGD:731021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3717 D RGD:9068941 20200609 RGD PMID:17267548|REF_RGD_ID:1642729 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3717 D RGD:9068941 20200609 RGD protein:increased activity:cardiac muscle cell PMID:17822695|REF_RGD_ID:1642716 9036209 Slc8a1 solute carrier family 8 member A1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:731021 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15215644 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0080102 congenital myopathy 4A ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age PMID:25326635|PMID:25741868 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0081295 essential tremor 6 ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 6 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0081337 congenital myopathy ISO RGD:732165 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy | ClinVar Annotator: match by term: Congenital myopathy PMID:25741868|PMID:26700687|PMID:28492532 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0081354 congenital myopathy 22A ISO RGD:732165 D RGD:7240710 20230517 OMIM 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0081354 congenital myopathy 22A ISO RGD:732165 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital myopathy 22A, classic PMID:20076800|PMID:25741868|PMID:26659129|PMID:26700687|PMID:28262468|PMID:28492532|PMID:30283817|PMID:32533946|PMID:32801145|PMID:35037686 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0081355 congenital myopathy 22B ISO RGD:732165 D RGD:7240710 20230607 OMIM 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0081355 congenital myopathy 22B ISO RGD:732165 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Congenital myopathy 22B, severe fetal PMID:26700687|PMID:28492532 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0110682 congenital myasthenic syndrome 16 ISO RGD:732165 D RGD:7240710 20180130 OMIM 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0110682 congenital myasthenic syndrome 16 ISO RGD:732165 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 16 | ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive PMID:10206477|PMID:10218481|PMID:10366610|PMID:10944223|PMID:11309455|PMID:11558801|PMID:11723275|PMID:11744749|PMID:11912116|PMID:12562902|PMID:12766226|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14617673|PMID:15482957|PMID:15534250|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15774523|PMID:15790667|PMID:1659948|PMID:16870577|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17591984|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18824591|PMID:19052238|PMID:19065518|PMID:19077043|PMID:19201608|PMID:19225109|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20981092|PMID:21220685|PMID:2173143|PMID:22253644|PMID:22253645|PMID:22507243|PMID:22653516|PMID:22926674|PMID:23019082|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:24682880|PMID:25024265|PMID:25213595|PMID:25326635|PMID:25483584|PMID:25707578|PMID:25724373|PMID:25741868|PMID:25839108|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26659129|PMID:26700687|PMID:26834636|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:28779239|PMID:29605429|PMID:29606556|PMID:29790872|PMID:30038349|PMID:30172468|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32528171|PMID:32533946|PMID:32670189|PMID:32801145|PMID:32849172|PMID:33146414|PMID:33325393|PMID:34008892|PMID:34418069|PMID:35037686|PMID:7676326|PMID:7695243|PMID:7809121|PMID:8005599|PMID:8044656|PMID:8110459|PMID:8388676|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9536098|PMID:9886942 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:18046642|PMID:20981092|PMID:25741868|PMID:28492532|PMID:7695243|PMID:9266738 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0111538 paramyotonia congenita of Von Eulenburg ISO RGD:732165 D RGD:7240710 20180425 OMIM 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:0111538 paramyotonia congenita of Von Eulenburg ISO RGD:732165 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Paramyotonia congenita of Von Eulenburg | ClinVar Annotator: match by term: Von Eulenburg paramyotonia congenita PMID:10206477|PMID:10218481|PMID:10227633|PMID:10366610|PMID:10944223|PMID:11309455|PMID:11558801|PMID:11723275|PMID:11744749|PMID:11912116|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15774523|PMID:15790667|PMID:16392038|PMID:1659948|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:16870577|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17591984|PMID:17823953|PMID:17998485|PMID:18033047|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:18824591|PMID:19015492|PMID:19052238|PMID:19077043|PMID:19201608|PMID:19225109|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21220685|PMID:21317558|PMID:21490317|PMID:21520339|PMID:2173143|PMID:22094069|PMID:22250216|PMID:22253644|PMID:22253645|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22653516|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24939454|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26036855|PMID:26080010|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26494408|PMID:26700687|PMID:26834636|PMID:26885337|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27714768|PMID:27858759|PMID:28024841|PMID:28150151|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:28779239|PMID:29050397|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31127727|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33263785|PMID:33325393|PMID:33573884|PMID:34008892|PMID:34418069|PMID:35350395|PMID:35866763|PMID:36782059|PMID:7473241|PMID:7676326|PMID:7695243|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8388676|PMID:8580427|PMID:8583225|PMID:8740371|PMID:8833340|PMID:8902732|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9508833|PMID:9536098|PMID:9660885|PMID:9771789|PMID:9886942 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:10907 microcephaly ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:7240710 20180130 OMIM 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Adynamia episodica hereditaria with or without myotonia | ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE PMID:10200418|PMID:10206477|PMID:10218481|PMID:10227633|PMID:10366610|PMID:10381583|PMID:10599760|PMID:10851391|PMID:10944223|PMID:11102465|PMID:11309455|PMID:11422459|PMID:11558801|PMID:11591859|PMID:11723275|PMID:11744749|PMID:11757950|PMID:11912116|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12766226|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14557559|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15645704|PMID:15774523|PMID:15790667|PMID:16199547|PMID:16386935|PMID:16392038|PMID:1659668|PMID:1659948|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:16870577|PMID:16890191|PMID:17212350|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17591984|PMID:17823953|PMID:17898326|PMID:17998485|PMID:18033047|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:18824591|PMID:19015492|PMID:19052238|PMID:19065518|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19221125|PMID:19225109|PMID:19290024|PMID:19770477|PMID:19840739|PMID:19876661|PMID:19882638|PMID:20038812|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20495927|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21520339|PMID:21664816|PMID:21665479|PMID:21665951|PMID:21698652|PMID:21708955|PMID:2173143|PMID:21841462|PMID:21881211|PMID:22094069|PMID:22094484|PMID:22106717|PMID:22250216|PMID:22253644|PMID:22253645|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22653516|PMID:22914841|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24939454|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25326635|PMID:25348630|PMID:25454733|PMID:25483584|PMID:25660391|PMID:25707578|PMID:25724373|PMID:25735906|PMID:25741868|PMID:25755818|PMID:25839108|PMID:25961944|PMID:26036855|PMID:26080010|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26494408|PMID:26633542|PMID:26659129|PMID:26700687|PMID:26834636|PMID:26865514|PMID:26885337|PMID:26944947|PMID:26986070|PMID:27060299|PMID:27104891|PMID:27164696|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27714768|PMID:27858759|PMID:27922499|PMID:28024841|PMID:28150151|PMID:28262468|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:28779239|PMID:28877545|PMID:28940424|PMID:29050397|PMID:29111379|PMID:29391559|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:29930533|PMID:29946067|PMID:29991727|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30283817|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30824560|PMID:30931713|PMID:31068157|PMID:31127727|PMID:31492720|PMID:31567646|PMID:31609695|PMID:31732390|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32117035|PMID:32129495|PMID:32276507|PMID:32369273|PMID:32411069|PMID:32528171|PMID:32533946|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32801145|PMID:32849172|PMID:33123387|PMID:33146414|PMID:33263785|PMID:33325393|PMID:33343696|PMID:33573884|PMID:33670307|PMID:33726816|PMID:33965302|PMID:34008892|PMID:34290819|PMID:34378097|PMID:34418069|PMID:34608571|PMID:34908252|PMID:35037686|PMID:35350395|PMID:35759432|PMID:35866763|PMID:36782059|PMID:7473241|PMID:7676326|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8388676|PMID:8542048|PMID:8580427|PMID:8583225|PMID:8619545|PMID:8740371|PMID:8833340|PMID:8902732|PMID:8910215|PMID:9130156|PMID:9131651|PMID:9266738 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Adynamia episodica hereditaria with or without myotonia | ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE PMID:9339683|PMID:9392583|PMID:9508833|PMID:9536098|PMID:9660885|PMID:9771789|PMID:9886942 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adynamia episodica hereditaria with or without myotonia | ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE PMID:10200418|PMID:10206477|PMID:10218481|PMID:10227633|PMID:10366610|PMID:10369308|PMID:10381583|PMID:10599760|PMID:10851391|PMID:10944223|PMID:11102465|PMID:11309455|PMID:11422459|PMID:11558801|PMID:11591859|PMID:11723275|PMID:11744749|PMID:11757950|PMID:11912116|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12766226|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14557559|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15645704|PMID:15774523|PMID:15790667|PMID:16199547|PMID:16386935|PMID:16392038|PMID:1659668|PMID:1659948|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:16870577|PMID:16890191|PMID:17212350|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17591984|PMID:17823953|PMID:17898326|PMID:17998485|PMID:18033047|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:18824591|PMID:19015492|PMID:19052238|PMID:19065518|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19221125|PMID:19225109|PMID:19290024|PMID:19770477|PMID:19840739|PMID:19876661|PMID:19882638|PMID:20038812|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20495927|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21520339|PMID:21664816|PMID:21665479|PMID:21665951|PMID:21698652|PMID:21708955|PMID:2173143|PMID:21841462|PMID:21881211|PMID:22094069|PMID:22094484|PMID:22106717|PMID:22250216|PMID:22253644|PMID:22253645|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22653516|PMID:22914841|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24939454|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25326635|PMID:25348630|PMID:25454733|PMID:25483584|PMID:25660391|PMID:25707578|PMID:25724373|PMID:25735906|PMID:25741868|PMID:25755818|PMID:25839108|PMID:25961944|PMID:26036855|PMID:26080010|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26494408|PMID:26633542|PMID:26659129|PMID:26700687|PMID:26834636|PMID:26865514|PMID:26885337|PMID:26944947|PMID:26986070|PMID:27060299|PMID:27104891|PMID:27164696|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27714768|PMID:27858759|PMID:27922499|PMID:28024841|PMID:28150151|PMID:28262468|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:28779239|PMID:28877545|PMID:28940424|PMID:29050397|PMID:29111379|PMID:29391559|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:29930533|PMID:29946067|PMID:29991727|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30283817|PMID:30369941|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30824560|PMID:30931713|PMID:31068157|PMID:31127727|PMID:31492720|PMID:31567646|PMID:31609695|PMID:31732390|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32117035|PMID:32129495|PMID:32276507|PMID:32369273|PMID:32411069|PMID:32528171|PMID:32533946|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32798841|PMID:32801145|PMID:32849172|PMID:33060286|PMID:33123387|PMID:33146414|PMID:33263785|PMID:33325393|PMID:33343696|PMID:33573884|PMID:33670307|PMID:33726816|PMID:33820833|PMID:33965302|PMID:34008892|PMID:34011629|PMID:34290819|PMID:34378097|PMID:34418069|PMID:34608571|PMID:34908252|PMID:35037686|PMID:35350395|PMID:35759432|PMID:35866763|PMID:36099689|PMID:36116128|PMID:36782059|PMID:36796140|PMID:7473241|PMID:7676326|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8388676|PMID:8542048 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14451 hyperkalemic periodic paralysis ISO RGD:732165 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adynamia episodica hereditaria with or without myotonia | ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE PMID:8580427|PMID:8583225|PMID:8619545|PMID:8740371|PMID:8833340|PMID:8902732|PMID:8910215|PMID:9130156|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9392583|PMID:9508833|PMID:9536098|PMID:9660885|PMID:9771789|PMID:9886942 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14452 hypokalemic periodic paralysis ISO RGD:732165 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis PMID:10206477|PMID:10218481|PMID:10366610|PMID:10944223|PMID:11309455|PMID:11558801|PMID:11723275|PMID:11744749|PMID:11912116|PMID:12872329|PMID:12933953|PMID:1310898|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14617673|PMID:15482957|PMID:15534250|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15790667|PMID:1659948|PMID:16870577|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17591984|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18824591|PMID:19077043|PMID:19225109|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20445432|PMID:20660662|PMID:21220685|PMID:2173143|PMID:22253644|PMID:22253645|PMID:22653516|PMID:22926674|PMID:23019082|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23810313|PMID:25024265|PMID:25213595|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25839108|PMID:26252573|PMID:26256659|PMID:26427606|PMID:26467025|PMID:26834636|PMID:27199537|PMID:27415035|PMID:27922499|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:29391559|PMID:29790872|PMID:29946067|PMID:30172468|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32849172|PMID:34008892|PMID:34418069|PMID:7809121|PMID:8044656|PMID:8388676|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9392583|PMID:9536098|PMID:9886942 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:14748 Sotos syndrome ISO RGD:732165 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:10366610|PMID:11309455|PMID:12933953|PMID:15534250|PMID:15583983|PMID:15642860|PMID:1659948|PMID:16870577|PMID:17395131|PMID:18166706|PMID:19077043|PMID:2173143|PMID:22253644|PMID:23473731|PMID:25741868|PMID:26256659|PMID:26467025|PMID:28492532|PMID:28662944|PMID:30172468|PMID:30647473|PMID:30931713|PMID:34008892|PMID:7809121|PMID:8044656|PMID:8388676|PMID:9886942 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:2106 myotonia congenita ISO RGD:732165 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy PMID:25741868 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:2234 focal epilepsy ISO RGD:732165 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:11723275|PMID:1338909|PMID:20076800|PMID:22926674|PMID:25741868|PMID:26467025|PMID:28330959|PMID:28492532|PMID:32849172|PMID:34418069|PMID:7809121 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:2843 long QT syndrome ISO RGD:732165 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:3635 congenital myasthenic syndrome ISO RGD:732165 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:12766226|PMID:25741868|PMID:26659129|PMID:28492532 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:423 myopathy ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25326635|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28492532 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:450 myotonic disease ISO RGD:732165 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Paramyotonia congenita/myotonia congenita PMID:10682917|PMID:11744749|PMID:1338909|PMID:16392038|PMID:23771340|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7980103|PMID:9618291|PMID:9660885 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:630 genetic disease ISO RGD:732165 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10851391|PMID:11723275|PMID:1338909|PMID:14557559|PMID:17898326|PMID:18337100|PMID:18337730|PMID:20076800|PMID:21221019|PMID:22926674|PMID:25454733|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26700687|PMID:26986070|PMID:27164696|PMID:28330959|PMID:28492532|PMID:29451154|PMID:29606556|PMID:32849172|PMID:34418069|PMID:7809121 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9000884 Rhabdomyolysis ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:12562902|PMID:1316765|PMID:18166706|PMID:18337730|PMID:22507243|PMID:25741868|PMID:26467025|PMID:27415035|PMID:28492532|PMID:28779239|PMID:7676326|PMID:7809121|PMID:8005599|PMID:8110459 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 ISO RGD:732165 D RGD:7240710 20180130 OMIM 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 ISO RGD:732165 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2 PMID:10206477|PMID:10218481|PMID:10366610|PMID:10599760|PMID:10851391|PMID:10944223|PMID:11102465|PMID:11309455|PMID:11558801|PMID:11591859|PMID:11723275|PMID:11744749|PMID:11912116|PMID:12562902|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14557559|PMID:14617673|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15645704|PMID:15774523|PMID:15790667|PMID:16386935|PMID:1659948|PMID:16624558|PMID:16870577|PMID:16890191|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17591984|PMID:17898326|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18824591|PMID:19052238|PMID:19065518|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19225109|PMID:19770477|PMID:19840739|PMID:19882638|PMID:20076800|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21490317|PMID:21665951|PMID:2173143|PMID:21841462|PMID:21881211|PMID:22094484|PMID:22253644|PMID:22253645|PMID:22507243|PMID:22653516|PMID:22926674|PMID:23019082|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:24549961|PMID:24682880|PMID:25024265|PMID:25213595|PMID:25326635|PMID:25454733|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26834636|PMID:26986070|PMID:27164696|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:28024841|PMID:28150151|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:28779239|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29790872|PMID:29991727|PMID:30038349|PMID:30172468|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31068157|PMID:31127727|PMID:31567646|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32276507|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33325393|PMID:34008892|PMID:34290819|PMID:34418069|PMID:34608571|PMID:35759432|PMID:7676326|PMID:7695243|PMID:7809121|PMID:7965854|PMID:8005599|PMID:8044656|PMID:8110459|PMID:8242056|PMID:8388676|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9536098|PMID:9771789|PMID:9886942 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:732165 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:10206477|PMID:10218481|PMID:10366610|PMID:10944223|PMID:11309455|PMID:11558801|PMID:11723275|PMID:11744749|PMID:11912116|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15482957|PMID:15534250|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15774523|PMID:15790667|PMID:16392038|PMID:1659668|PMID:1659948|PMID:16801039|PMID:16832098|PMID:16870577|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17591984|PMID:18033047|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18824591|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19225109|PMID:19290024|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20660662|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21520339|PMID:21665479|PMID:21665951|PMID:21708955|PMID:2173143|PMID:21841462|PMID:22253644|PMID:22253645|PMID:22653516|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23958773|PMID:24549961|PMID:24714718|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25326635|PMID:25348630|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25839108|PMID:25961944|PMID:26036855|PMID:26080010|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:26834636|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:27922499|PMID:28024841|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:29391559|PMID:29419865|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:29930533|PMID:29946067|PMID:29991727|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30369941|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31068157|PMID:31127727|PMID:31567646|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32276507|PMID:32660787|PMID:32670189|PMID:32798841|PMID:32849172|PMID:33146414|PMID:33263785|PMID:33325393|PMID:34008892|PMID:34011629|PMID:34418069|PMID:36116128|PMID:36796140|PMID:7473241|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8388676|PMID:8583225|PMID:8740371|PMID:8833340|PMID:8910215|PMID:9130156|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9392583|PMID:9536098|PMID:9886942 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9005532 Muscle Weakness ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle weakness PMID:25741868 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:732165 D RGD:7240710 20180130 OMIM 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9005884 Potassium Aggravated Myotonia ISO RGD:732165 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Myotonia congenita, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia congenita, atypical, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia fluctuans | ClinVar Annotator: match by term: Potassium-aggravated myotonia PMID:10206477|PMID:10218481|PMID:10366610|PMID:10682917|PMID:10944223|PMID:11309455|PMID:11558801|PMID:11723275|PMID:11744749|PMID:11912116|PMID:12562902|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14617673|PMID:15037716|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15774523|PMID:15790667|PMID:16392038|PMID:1659948|PMID:16624558|PMID:16786525|PMID:16832098|PMID:16870577|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17591984|PMID:17823953|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18824591|PMID:19077043|PMID:19225109|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21220685|PMID:2173143|PMID:22094069|PMID:22253644|PMID:22253645|PMID:22507243|PMID:22653516|PMID:22759684|PMID:22926674|PMID:23019082|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23810313|PMID:23884711|PMID:23958773|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25483584|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26080010|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26834636|PMID:26885337|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27714768|PMID:27858759|PMID:28150151|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:28779239|PMID:28877545|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:30038349|PMID:30172468|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31567646|PMID:32026975|PMID:32276507|PMID:32369273|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33263785|PMID:33325393|PMID:34008892|PMID:34418069|PMID:3822145|PMID:7473241|PMID:7676326|PMID:7695243|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8388676|PMID:8583225|PMID:8740371|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9336185|PMID:9392583|PMID:9536098|PMID:9618291|PMID:9660885|PMID:9771789|PMID:9886942 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9007 sudden infant death syndrome ISO RGD:732165 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9007141 Normokalemic Periodic Paralysis, Potassium-Sensitive ISO RGD:732165 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Normokalemic periodic paralysis, potassium-sensitive PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25326635|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28492532|PMID:29606556 9036237 Scn4a sodium voltage-gated channel alpha subunit 4 gene DOID:9008993 Myotonia ISO RGD:732165 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myotonia PMID:25741868|PMID:26467025|PMID:27922499|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33573884 9036271 Gdf3 growth differentiation factor 3 gene DOID:0060249 scoliosis ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:19864492|PMID:25741868|PMID:28492532 9036271 Gdf3 growth differentiation factor 3 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1345464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9036271 Gdf3 growth differentiation factor 3 gene DOID:0060838 isolated microphthalmia 7 ISO RGD:1345464 D RGD:7240710 20180130 OMIM 9036271 Gdf3 growth differentiation factor 3 gene DOID:0060838 isolated microphthalmia 7 ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 7 PMID:19864492|PMID:28492532 9036271 Gdf3 growth differentiation factor 3 gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 9036271 Gdf3 growth differentiation factor 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345464 D RGD:7240710 20180130 OMIM 9036271 Gdf3 growth differentiation factor 3 gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:19864492|PMID:25741868|PMID:28492532|PMID:29735971 9036271 Gdf3 growth differentiation factor 3 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9036271 Gdf3 growth differentiation factor 3 gene DOID:0111621 Temtamy syndrome ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9036271 Gdf3 growth differentiation factor 3 gene DOID:1682 congenital heart disease ISO RGD:1345464 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:22613031 9036271 Gdf3 growth differentiation factor 3 gene DOID:630 genetic disease ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036271 Gdf3 growth differentiation factor 3 gene DOID:9000197 Edema ISO RGD:1345464 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:22613031 9036271 Gdf3 growth differentiation factor 3 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:1345464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16168501 9036271 Gdf3 growth differentiation factor 3 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1345464 D RGD:7240710 20180130 OMIM 9036271 Gdf3 growth differentiation factor 3 gene DOID:9001685 Isolated Microphthalmia with Coloboma 6 ISO RGD:1345464 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 PMID:19864492|PMID:24281366|PMID:25741868|PMID:28492532 9036271 Gdf3 growth differentiation factor 3 gene DOID:9004493 Camptocormia ISO RGD:1345464 D RGD:9068941 20230803 CTD CTD Direct Evidence: marker/mechanism PMID:22613031 9036271 Gdf3 growth differentiation factor 3 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1345464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9036278 Tprg1 tumor protein p63 regulated 1 gene DOID:5419 schizophrenia ISO RGD:1605237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9036278 Tprg1 tumor protein p63 regulated 1 gene DOID:630 genetic disease ISO RGD:1605237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036291 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1314629 D RGD:7240710 20180130 OMIM 9036291 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:0080029 autosomal recessive spinocerebellar ataxia 16 ISO RGD:1314629 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16 PMID:24113144|PMID:24312598|PMID:24719489|PMID:24742043|PMID:25258038|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:31571321|PMID:32367277|PMID:33097556|PMID:33200713|PMID:33417001|PMID:34234304|PMID:34663476 9036291 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1314629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 9036291 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1314629 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 9036291 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:0111746 cerebellar ataxia type 48 ISO RGD:1314629 D RGD:7240710 20190315 OMIM 9036291 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:0111746 cerebellar ataxia type 48 ISO RGD:1314629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 48 PMID:24719489|PMID:25258038|PMID:25741868|PMID:28492532|PMID:30381368|PMID:31126790|PMID:31571321|PMID:32488064|PMID:34070858 9036291 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:1826 epilepsy ISO RGD:1314629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9036291 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1314629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9036291 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:630 genetic disease ISO RGD:1314629 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24719489|PMID:25741868|PMID:28193272|PMID:28193273|PMID:28396517|PMID:28444220|PMID:28492532|PMID:29317501|PMID:29915382|PMID:32367277|PMID:33097556|PMID:33417001|PMID:34234304|PMID:34663476 9036291 Stub1 STIP1 homology and U-box containing protein 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1314629 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9036302 Mprip myosin phosphatase Rho interacting protein gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:736941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 9036302 Mprip myosin phosphatase Rho interacting protein gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:736941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 9036302 Mprip myosin phosphatase Rho interacting protein gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:736941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 9036302 Mprip myosin phosphatase Rho interacting protein gene DOID:0110980 Joubert syndrome 1 ISO RGD:736941 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9036302 Mprip myosin phosphatase Rho interacting protein gene DOID:12849 autistic disorder ISO RGD:736941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9036302 Mprip myosin phosphatase Rho interacting protein gene DOID:630 genetic disease ISO RGD:736941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036302 Mprip myosin phosphatase Rho interacting protein gene DOID:9004657 Weight Gain ISO RGD:736941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 9036338 Pcolce procollagen C-endopeptidase enhancer gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:733466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9036338 Pcolce procollagen C-endopeptidase enhancer gene DOID:5082 liver cirrhosis ISO RGD:733466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 9036338 Pcolce procollagen C-endopeptidase enhancer gene DOID:630 genetic disease ISO RGD:733466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036338 Pcolce procollagen C-endopeptidase enhancer gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733466 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 9036363 Cavin2 caveolae associated protein 2 gene DOID:10487 Hirschsprung's disease ISO RGD:1348108 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25792468 9036363 Cavin2 caveolae associated protein 2 gene DOID:630 genetic disease ISO RGD:1348108 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036363 Cavin2 caveolae associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348108 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9036369 Sord sorbitol dehydrogenase gene DOID:0050712 AGAT deficiency ISO RGD:735508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 9036369 Sord sorbitol dehydrogenase gene DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 ISO RGD:735508 D RGD:7240710 20200916 OMIM 9036369 Sord sorbitol dehydrogenase gene DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 8 PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 9036369 Sord sorbitol dehydrogenase gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:735508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:32367058 9036369 Sord sorbitol dehydrogenase gene DOID:2717 Bloom syndrome ISO RGD:735508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9036369 Sord sorbitol dehydrogenase gene DOID:4661 multiple chemical sensitivity ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic environmental intolerance PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 9036369 Sord sorbitol dehydrogenase gene DOID:574 peripheral nervous system disease ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 9036369 Sord sorbitol dehydrogenase gene DOID:630 genetic disease ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 9036369 Sord sorbitol dehydrogenase gene DOID:83 cataract ISO RGD:11332 D RGD:9068941 20220825 MouseDO OMIM:601371 9036369 Sord sorbitol dehydrogenase gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 9036369 Sord sorbitol dehydrogenase gene DOID:870 neuropathy ISO RGD:735508 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:32367058|PMID:32457452|PMID:33201363|PMID:33381078|PMID:33397963|PMID:33875678|PMID:34819907|PMID:8622605 9036369 Sord sorbitol dehydrogenase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3734 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:15064821|REF_RGD_ID:1601360 9036369 Sord sorbitol dehydrogenase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12763371 9036369 Sord sorbitol dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3734 D RGD:9068941 20200609 RGD protein:increased activity:heart PMID:14525943|REF_RGD_ID:1601364 9036369 Sord sorbitol dehydrogenase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18549825 9036369 Sord sorbitol dehydrogenase gene DOID:9256 colorectal cancer ISO RGD:735508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9036369 Sord sorbitol dehydrogenase gene DOID:9743 diabetic neuropathy resistance ISO RGD:3734 D RGD:9068941 20200609 RGD PMID:15755558|REF_RGD_ID:1601362 9036390 Pus10 pseudouridine synthase 10 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:1606697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 9036390 Pus10 pseudouridine synthase 10 gene DOID:0080485 peroxisome biogenesis disorder 11A ISO RGD:1606697 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:10332040|PMID:16199547|PMID:17576681|PMID:19449432|PMID:21031596|PMID:25741868|PMID:28492532|PMID:34055681|PMID:9536098 9036390 Pus10 pseudouridine synthase 10 gene DOID:630 genetic disease ISO RGD:1606697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9036422 Angptl6 angiopoietin like 6 gene DOID:0080600 COVID-19 ISO RGD:1322443 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9036422 Angptl6 angiopoietin like 6 gene DOID:11714 gestational diabetes ISO RGD:1322443 D RGD:9068941 20230601 RGD protein:increased expression:blood serum,umbilical artery (human) PMID:35876300|REF_RGD_ID:329845845 9036422 Angptl6 angiopoietin like 6 gene DOID:630 genetic disease ISO RGD:1322443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036422 Angptl6 angiopoietin like 6 gene DOID:684 hepatocellular carcinoma ISO RGD:1322443 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9036422 Angptl6 angiopoietin like 6 gene DOID:9970 obesity ISO RGD:1322444 D RGD:9068941 20220825 MouseDO OMIM:601665 9036435 Topbp1 DNA topoisomerase II binding protein 1 gene DOID:630 genetic disease ISO RGD:1321299 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9036435 Topbp1 DNA topoisomerase II binding protein 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1321299 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 9036435 Topbp1 DNA topoisomerase II binding protein 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1321299 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18006695 9036435 Topbp1 DNA topoisomerase II binding protein 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1321299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 9036435 Topbp1 DNA topoisomerase II binding protein 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1321299 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:25741868 9036435 Topbp1 DNA topoisomerase II binding protein 1 gene DOID:9270 alkaptonuria ISO RGD:1321299 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9036501 Sema3a semaphorin 3A gene DOID:0050834 CHARGE syndrome ISO RGD:730921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 9036501 Sema3a semaphorin 3A gene DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia ISO RGD:730921 D RGD:7240710 20180130 OMIM 9036501 Sema3a semaphorin 3A gene DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia ISO RGD:730921 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition PMID:22416012|PMID:22927827|PMID:24033266|PMID:24728844|PMID:24963029|PMID:25741868|PMID:28492532|PMID:29419413|PMID:30098700|PMID:32060892|PMID:32870266 9036501 Sema3a semaphorin 3A gene DOID:0111586 Martsolf syndrome 1 ISO RGD:730921 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Martsolf syndrome 1 PMID:22927827|PMID:25741868 9036501 Sema3a semaphorin 3A gene DOID:13938 amenorrhea ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:22927827|PMID:28492532|PMID:32870266 9036501 Sema3a semaphorin 3A gene DOID:1826 epilepsy ISO RGD:730921 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25074461 9036501 Sema3a semaphorin 3A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9036501 Sema3a semaphorin 3A gene DOID:5419 schizophrenia ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9036501 Sema3a semaphorin 3A gene DOID:630 genetic disease ISO RGD:730921 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9036501 Sema3a semaphorin 3A gene DOID:9001239 Delayed Puberty ISO RGD:730921 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty PMID:25636053|PMID:28492532 9036501 Sema3a semaphorin 3A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730921 D RGD:9068941 20210416 CTD CTD Direct Evidence: therapeutic PMID:33290778 9036522 Lrp2 LDL receptor related protein 2 gene DOID:0090144 Donnai-Barrow syndrome ISO RGD:68599 D RGD:7240710 20180130 OMIM 9036522 Lrp2 LDL receptor related protein 2 gene DOID:0090144 Donnai-Barrow syndrome ISO RGD:68599 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition PMID:12923867|PMID:16199547|PMID:17576681|PMID:17632512|PMID:18414213|PMID:20301732|PMID:20359920|PMID:23033978|PMID:23048173|PMID:24319098|PMID:24406863|PMID:24876117|PMID:25158045|PMID:25326635|PMID:25682901|PMID:25741868|PMID:26118977|PMID:26284228|PMID:26350204|PMID:26529358|PMID:28492532|PMID:28539120|PMID:29992659|PMID:30167849|PMID:32238909|PMID:33103447|PMID:33461977|PMID:34979047|PMID:8266995|PMID:9475100|PMID:9536098 9036522 Lrp2 LDL receptor related protein 2 gene DOID:10003 sensorineural hearing loss ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 9036522 Lrp2 LDL receptor related protein 2 gene DOID:1059 intellectual disability ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:25107291|PMID:25741868|PMID:26529358|PMID:28492532|PMID:30167849 9036522 Lrp2 LDL receptor related protein 2 gene DOID:1059 intellectual disability ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound PMID:18414213|PMID:25741868|PMID:26350204|PMID:26529358|PMID:28492532|PMID:30167849 9036522 Lrp2 LDL receptor related protein 2 gene DOID:1062 Fanconi syndrome ISO RGD:68600 D RGD:9068941 20220825 MouseDO OMIM:134600 | OMIM:613388 | OMIM:615605 9036522 Lrp2 LDL receptor related protein 2 gene DOID:10763 hypertension ISO RGD:68407 D RGD:9068941 20200609 RGD protein:altered localization:apical plasma membrane PMID:10919857|REF_RGD_ID:1641827 9036522 Lrp2 LDL receptor related protein 2 gene DOID:10976 membranous glomerulonephritis ISO RGD:68407 D RGD:9068941 20200609 RGD mRNA:decreased expression:glomerulus PMID:10919857|REF_RGD_ID:1641827 9036522 Lrp2 LDL receptor related protein 2 gene DOID:11193 syndactyly ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic syndactyly PMID:25741868|PMID:28492532 9036522 Lrp2 LDL receptor related protein 2 gene DOID:11829 degenerative myopia ISO RGD:68600 D RGD:9068941 20220825 MouseDO 9036522 Lrp2 LDL receptor related protein 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:68599 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9036522 Lrp2 LDL receptor related protein 2 gene DOID:2527 nephrosis ISO RGD:68407 D RGD:9068941 20200609 RGD mRNA:decreased expression:glomerulus PMID:10919857|REF_RGD_ID:1641827 9036522 Lrp2 LDL receptor related protein 2 gene DOID:3021 acute kidney failure ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29286200 9036522 Lrp2 LDL receptor related protein 2 gene DOID:5394 prolactinoma ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prolactinoma, familial PMID:17632512|PMID:25682901|PMID:25741868|PMID:28492532 9036522 Lrp2 LDL receptor related protein 2 gene DOID:557 kidney disease ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 9036522 Lrp2 LDL receptor related protein 2 gene DOID:630 genetic disease ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:17632512|PMID:20359920|PMID:24406863|PMID:25158045|PMID:25682901|PMID:25741868|PMID:26350204|PMID:28492532|PMID:29992659|PMID:34979047|PMID:9536098 9036522 Lrp2 LDL receptor related protein 2 gene DOID:7188 autoimmune thyroiditis ISO RGD:68599 D RGD:9068941 20200609 RGD PMID:10404822|REF_RGD_ID:1641847 9036522 Lrp2 LDL receptor related protein 2 gene DOID:783 end stage renal disease ISO RGD:68407 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney PMID:15266031|REF_RGD_ID:1641836 9036522 Lrp2 LDL receptor related protein 2 gene DOID:8501 fundus dystrophy ISO RGD:68599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28041643|PMID:28492532 9036522 Lrp2 LDL receptor related protein 2 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:68407 D RGD:9068941 20200609 RGD PMID:11841627|REF_RGD_ID:1641842 9036522 Lrp2 LDL receptor related protein 2 gene DOID:9001542 Albuminuria ISO RGD:68407 D RGD:9068941 20200609 RGD PMID:12121845|REF_RGD_ID:1641839 9036522 Lrp2 LDL receptor related protein 2 gene DOID:9002189 High Myopia ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:17632512|PMID:25682901|PMID:25741868|PMID:28492532 9036522 Lrp2 LDL receptor related protein 2 gene DOID:9002278 Metabolic Bone Diseases ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10052453 9036522 Lrp2 LDL receptor related protein 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919386 9036522 Lrp2 LDL receptor related protein 2 gene DOID:9002525 Hereditary Eye Diseases ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 9036522 Lrp2 LDL receptor related protein 2 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:68599 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: DSD incomplete virilization PMID:20359920|PMID:25741868|PMID:28492532|PMID:34979047 9036522 Lrp2 LDL receptor related protein 2 gene DOID:9004538 Hearing Loss ISO RGD:68599 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 9036522 Lrp2 LDL receptor related protein 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68407 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, proximal convoluted tubule, apical plasma membrane PMID:11685557|REF_RGD_ID:1641843 9036522 Lrp2 LDL receptor related protein 2 gene DOID:9006359 Vitamin D Deficiency ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10052453 9036522 Lrp2 LDL receptor related protein 2 gene DOID:9008086 Developmental Disabilities ISO RGD:68599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 9036522 Lrp2 LDL receptor related protein 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 9036522 Lrp2 LDL receptor related protein 2 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:68599 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632512 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0050562 West syndrome ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant PMID:25741868|PMID:28492532 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:733239 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:24183451|PMID:28492532|PMID:29068549 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:20228407|PMID:22258530|PMID:22368301|PMID:24183449|PMID:24183451|PMID:25224718|PMID:25658047|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26704558|PMID:28166811|PMID:28199897|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:31332438|PMID:33206935|PMID:33578420|PMID:9536098 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733239 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:20228407|PMID:22258530|PMID:22368301|PMID:22722545|PMID:24183449|PMID:24183451|PMID:25224718|PMID:25640679|PMID:25658047|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26704558|PMID:28199897|PMID:28379358|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:31332438|PMID:31452935|PMID:31515523|PMID:31785789|PMID:33206935|PMID:33578420|PMID:34556655|PMID:34590414|PMID:35150594|PMID:36331550|PMID:9536098 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0050952 spastic ataxia ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0060041 autism spectrum disorder ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733239 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0070338 cerebellar hypoplasia ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:29050398|PMID:31474318|PMID:32963807 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0080438 developmental and epileptic encephalopathy 5 ISO RGD:733239 D RGD:7240710 20180130 OMIM 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0080438 developmental and epileptic encephalopathy 5 ISO RGD:733239 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 5 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5 PMID:11911890|PMID:17576681|PMID:18414213|PMID:20228407|PMID:20493457|PMID:22258530|PMID:25224718|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28199897|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:30548380|PMID:31332438|PMID:31474318|PMID:31515523|PMID:32811770|PMID:32963807|PMID:34590414|PMID:35150594|PMID:36331550|PMID:9536098 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 ISO RGD:733239 D RGD:7240710 20231011 OMIM 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 ISO RGD:733239 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, 11, autosomal dominant PMID:25741868|PMID:28492532|PMID:31332438|PMID:33206935|PMID:33578420 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly ISO RGD:733239 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly PMID:24183449|PMID:24183451|PMID:28379358|PMID:28492532|PMID:29068549|PMID:33578420 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733239 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17576681|PMID:18414213|PMID:20228407|PMID:22258530|PMID:22368301|PMID:22722545|PMID:24183449|PMID:24183451|PMID:25224718|PMID:25640679|PMID:25658047|PMID:25741868|PMID:26467025|PMID:26539891|PMID:26704558|PMID:28199897|PMID:28379358|PMID:28492532|PMID:29050398|PMID:29358611|PMID:29655203|PMID:31332438|PMID:31452935|PMID:31515523|PMID:31785789|PMID:33206935|PMID:33578420|PMID:34556655|PMID:34590414|PMID:35150594|PMID:36331550|PMID:9536098 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:1059 intellectual disability ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:10907 microcephaly ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:12377 spinal muscular atrophy ISO RGD:733239 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:25741868|PMID:28492532|PMID:30548380|PMID:31332438|PMID:32811770|PMID:33578420|PMID:34590414 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:1289 neurodegenerative disease ISO RGD:733239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25015659 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:1826 epilepsy ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures PMID:18414213|PMID:20228407|PMID:22258530|PMID:25224718|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:29358611 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:1826 epilepsy ISO RGD:733239 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures PMID:18414213|PMID:20228407|PMID:22258530|PMID:25224718|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:29358611|PMID:33818783 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:1826 epilepsy ISO RGD:733239 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532|PMID:33818783 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:25741868|PMID:28492532 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:733239 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25224718|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:31515523 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:574 peripheral nervous system disease ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:630 genetic disease ISO RGD:733239 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11911890|PMID:17331725|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19348700|PMID:20228407|PMID:20493457|PMID:22159418|PMID:22258530|PMID:22429196|PMID:22632975|PMID:22656320|PMID:23390136|PMID:24896178|PMID:25108116|PMID:25224718|PMID:25477152|PMID:25613900|PMID:25631096|PMID:25741868|PMID:26467025|PMID:26539891|PMID:28492532|PMID:28567303|PMID:29050398|PMID:29358611|PMID:31069529|PMID:31332438|PMID:31515523|PMID:33206935|PMID:33578420|PMID:36331550|PMID:9536098 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:28492532 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:870 neuropathy ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733239 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:9002510 Focal Epilepsy with Speech Disorder and with or without Mental Retardation ISO RGD:733239 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT PMID:25741868|PMID:28492532 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532|PMID:29050398 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:9008582 Developmental Disease ISO RGD:733239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:9008626 Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia ISO RGD:733239 D RGD:7240710 20231025 OMIM 9036605 Sptan1 spectrin alpha, non-erythrocytic 1 gene DOID:9008626 Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia ISO RGD:733239 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia PMID:25741868|PMID:28492532|PMID:35150594|PMID:36331550 9036680 Aopep aminopeptidase O (putative) gene DOID:0060071 pre-malignant neoplasm ISO RGD:1320010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 9036680 Aopep aminopeptidase O (putative) gene DOID:0060224 atrial fibrillation ISO RGD:1320010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22544366|PMID:29892015|PMID:30061737 9036680 Aopep aminopeptidase O (putative) gene DOID:0111087 Fanconi anemia complementation group C ISO RGD:1320010 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:10431244|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15277238|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:19278965|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30541756|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1320010 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:08128956|PMID:08844212|PMID:09616183|PMID:12670332|PMID:15695377|PMID:17924555|PMID:22995991|PMID:23028338|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26740942|PMID:27153395|PMID:28125075|PMID:28492532|PMID:28767289|PMID:28775315|PMID:30031030|PMID:30541756|PMID:31133068|PMID:31784482|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:33471991|PMID:34117267|PMID:34426522|PMID:35264596|PMID:37349538|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:0111140 IGSF1 deficiency syndrome ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement 9036680 Aopep aminopeptidase O (putative) gene DOID:1059 intellectual disability ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9036680 Aopep aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17703323|PMID:17924555|PMID:19557015|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22382802|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33471991|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28717661|PMID:28767289|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33471991|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:11050007|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30630526|PMID:30967997|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33471991|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:35264596|PMID:36315513|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:13636 Fanconi anemia ISO RGD:1320010 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15277238|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:1520 colon carcinoma ISO RGD:1320010 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25058500|PMID:27165003 9036680 Aopep aminopeptidase O (putative) gene DOID:1612 breast cancer ISO RGD:1320010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08844212|PMID:09616183|PMID:14695169|PMID:15695377|PMID:17924555|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28492532|PMID:29654263|PMID:29922827|PMID:30031030|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:33471991|PMID:7689011|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:1612 breast cancer ISO RGD:1320010 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:08128956|PMID:08844212|PMID:09616183|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17924555|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28492532|PMID:29654263|PMID:29922827|PMID:30031030|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:32885271|PMID:33471991|PMID:35264596|PMID:7689011|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9521584|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:2394 ovarian cancer ISO RGD:1320010 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer PMID:23028338|PMID:25741868|PMID:28492532|PMID:32885271 9036680 Aopep aminopeptidase O (putative) gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1320010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:17703323|PMID:17924555|PMID:22382802|PMID:28492532 9036680 Aopep aminopeptidase O (putative) gene DOID:5426 primary ovarian insufficiency ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9036680 Aopep aminopeptidase O (putative) gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32566746 9036680 Aopep aminopeptidase O (putative) gene DOID:630 genetic disease ISO RGD:1320010 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9036680 Aopep aminopeptidase O (putative) gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9036680 Aopep aminopeptidase O (putative) gene DOID:9004381 Dystonia 31 ISO RGD:1320010 D RGD:7240710 20211124 OMIM 9036680 Aopep aminopeptidase O (putative) gene DOID:9004381 Dystonia 31 ISO RGD:1320010 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dystonia 31 PMID:25741868|PMID:34596301 9036680 Aopep aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08844212|PMID:08882868|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20869034|PMID:21520333|PMID:22720145|PMID:23028338|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30967997|PMID:31589614|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:8103176|PMID:8844212|PMID:8882868|PMID:9207444 9036680 Aopep aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30967997|PMID:31589614|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33471991|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15695377|PMID:16199547|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28767289|PMID:29641532|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30967997|PMID:31589614|PMID:31784482|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33471991|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:35264596|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:35264596|PMID:36315513|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34326862|PMID:35264596|PMID:36315513|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15277238|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28775315|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34326862|PMID:34426522|PMID:34445631|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036680 Aopep aminopeptidase O (putative) gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320010 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:08103176|PMID:08128956|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10383195|PMID:11050007|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:15277238|PMID:15364573|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17924555|PMID:19714462|PMID:20301575|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26822237|PMID:26990548|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28767289|PMID:28775315|PMID:29641532|PMID:29654263|PMID:29753700|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7689011|PMID:8103176|PMID:8128956|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8703809|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9521584|PMID:9536098|PMID:9616183 9036701 Mdfic MyoD family inhibitor domain containing gene DOID:0081030 central conducting lymphatic anomaly ISO RGD:1607030 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY PMID:25741868|PMID:35235341 9036701 Mdfic MyoD family inhibitor domain containing gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1607030 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9036701 Mdfic MyoD family inhibitor domain containing gene DOID:630 genetic disease ISO RGD:1607030 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036701 Mdfic MyoD family inhibitor domain containing gene DOID:9002507 Lymphatic Malformation 12 ISO RGD:1607030 D RGD:7240710 20220831 OMIM 9036701 Mdfic MyoD family inhibitor domain containing gene DOID:9002507 Lymphatic Malformation 12 ISO RGD:1607030 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 12 PMID:25741868|PMID:35235341 9036708 Tceanc2 transcription elongation factor A N-terminal and central domain containing 2 gene DOID:630 genetic disease ISO RGD:1606976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036726 Camta1 calmodulin binding transcription activator 1 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1318785 D RGD:7240710 20180130 OMIM 9036726 Camta1 calmodulin binding transcription activator 1 gene DOID:0050998 nonprogressive cerebellar ataxia with mental retardation ISO RGD:1318785 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities PMID:22693284|PMID:24738973|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28708303|PMID:29389947|PMID:30838254|PMID:32157189|PMID:33131045|PMID:33677721 9036726 Camta1 calmodulin binding transcription activator 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1318785 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9036726 Camta1 calmodulin binding transcription activator 1 gene DOID:0060811 syndromic X-linked intellectual disability Turner type ISO RGD:1318785 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE PMID:25741868 9036726 Camta1 calmodulin binding transcription activator 1 gene DOID:1059 intellectual disability ISO RGD:1318785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9036726 Camta1 calmodulin binding transcription activator 1 gene DOID:1826 epilepsy ISO RGD:1318785 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9036726 Camta1 calmodulin binding transcription activator 1 gene DOID:630 genetic disease ISO RGD:1318785 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9036726 Camta1 calmodulin binding transcription activator 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9036726 Camta1 calmodulin binding transcription activator 1 gene DOID:9008582 Developmental Disease ISO RGD:1318785 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9036761 Impdh2 inosine monophosphate dehydrogenase 2 gene DOID:3910 lung adenocarcinoma ISO RGD:1353070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9036761 Impdh2 inosine monophosphate dehydrogenase 2 gene DOID:543 dystonia ISO RGD:1353070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder 9036761 Impdh2 inosine monophosphate dehydrogenase 2 gene DOID:630 genetic disease ISO RGD:1353070 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036761 Impdh2 inosine monophosphate dehydrogenase 2 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1353070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 9036761 Impdh2 inosine monophosphate dehydrogenase 2 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1353070 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 9036761 Impdh2 inosine monophosphate dehydrogenase 2 gene DOID:9006205 Animal Disease Models ISO RGD:1353070 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:0060180 colitis ISO RGD:1348941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colitis PMID:25741868|PMID:28492532 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:0060180 colitis severity ISO RGD:734236 D RGD:9068941 20200609 RGD protein:increased expression:T cells:constitutive expression of transgene increases severity PMID:17043423|REF_RGD_ID:5491188 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1348941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:11476 osteoporosis ISO RGD:734236 D RGD:9068941 20220825 MouseDO OMIM:166710 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:12556 acute kidney tubular necrosis ISO RGD:734236 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:9422398|REF_RGD_ID:7242901 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:13774 Addison's disease ISO RGD:1348941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18593762 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:13774 Addison's disease ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs8048002T>C PMID:18593762|REF_RGD_ID:5491177 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:2377 multiple sclerosis ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:c.1632G>C, rs4774 PMID:21653641|REF_RGD_ID:5491175 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:2377 multiple sclerosis no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456, no association in a German cohort PMID:16426246|REF_RGD_ID:5491189 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:2377 multiple sclerosis susceptibility ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G PMID:15821736|REF_RGD_ID:1358146 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1348941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:399 tuberculosis susceptibility ISO RGD:734236 D RGD:9068941 20200609 RGD knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time PMID:12828554|REF_RGD_ID:5491205 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:5812 MHC class II deficiency ISO RGD:1348941 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group A | ClinVar Annotator: match by term: MHC class II deficiency PMID:11704716|PMID:11862382|PMID:15897313|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24044430|PMID:25741868|PMID:26271388|PMID:27484032|PMID:28492532|PMID:29095814|PMID:30609409|PMID:31980526|PMID:8402893|PMID:9099848|PMID:9536098 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:5812 MHC class II deficiency severity ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells PMID:11466404|REF_RGD_ID:5491200 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:5812 MHC class II deficiency susceptibility ISO RGD:1348941 D RGD:7240710 20240308 OMIM 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:5844 myocardial infarction no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G PMID:17183695|REF_RGD_ID:5491201 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:5844 myocardial infarction susceptibility ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G PMID:15821736|REF_RGD_ID:1358146 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:627 severe combined immunodeficiency ISO RGD:1348941 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bare Lymphocyte Syndrome PMID:25741868|PMID:28492532 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:630 genetic disease ISO RGD:1348941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:676 juvenile rheumatoid arthritis no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456, no association in a German cohort PMID:16426246|REF_RGD_ID:5491189 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:676 juvenile rheumatoid arthritis susceptibility ISO RGD:1348941 D RGD:9068941 20200814 RGD DNA:polymorphism:exon:1614G>C (human) PMID:17661914|REF_RGD_ID:5491187 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:7148 rheumatoid arthritis ISO RGD:1348941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Rheumatoid arthritis PMID:15821736|PMID:16849401|PMID:25741868|PMID:28492532 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:7148 rheumatoid arthritis no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456, no association in a German cohort PMID:16426246|REF_RGD_ID:5491189 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1348941 D RGD:7240710 20240308 OMIM 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:820 myocarditis ISO RGD:734236 D RGD:9068941 20200609 RGD Experimental autoimmune myocarditis; mRNA:antisense knockdown PMID:15808836|REF_RGD_ID:5491199 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:823 periapical periodontitis ISO RGD:619813 D RGD:9068941 20200609 RGD PMID:20478458|REF_RGD_ID:7242892 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:9001542 Albuminuria ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects PMID:17183695|REF_RGD_ID:5491201 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:619813 D RGD:9068941 20200609 RGD PMID:15821736|REF_RGD_ID:1358146 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:1348941 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:734236 D RGD:9068941 20200609 RGD PMID:14569092|REF_RGD_ID:7242896 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:9006646 Metabolic Syndrome ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-168A>G PMID:17183695|REF_RGD_ID:5491201 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:9074 systemic lupus erythematosus ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.485A>G PMID:15897313|REF_RGD_ID:5491190 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456 PMID:17711409|REF_RGD_ID:5491203 9036784 Ciita class II major histocompatibility complex transactivator gene DOID:9074 systemic lupus erythematosus resistance ISO RGD:1348941 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:rs3087456A, in a Japanese cohort A allele was protective/decreased risk of developing disease (p=0.006) PMID:17693604|REF_RGD_ID:5491204 9036809 Cnot8 CCR4-NOT transcription complex subunit 8 gene DOID:630 genetic disease ISO RGD:1314995 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036831 Zpld1 zona pellucida like domain containing 1 gene DOID:630 genetic disease ISO RGD:1606973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036846 Oxsr1 oxidative stress responsive kinase 1 gene DOID:0050451 Brugada syndrome ISO RGD:1351310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 9036846 Oxsr1 oxidative stress responsive kinase 1 gene DOID:10763 hypertension ISO RGD:1351310 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22949526 9036846 Oxsr1 oxidative stress responsive kinase 1 gene DOID:630 genetic disease ISO RGD:1351310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036846 Oxsr1 oxidative stress responsive kinase 1 gene DOID:9001436 Immunodeficiency 68 ISO RGD:1351310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY PMID:28492532 9036846 Oxsr1 oxidative stress responsive kinase 1 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1351310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 9036868 Atmin ATM interactor gene DOID:0090068 giant axonal neuropathy 1 ISO RGD:1603699 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Giant axonal neuropathy 1 PMID:28492532 9036868 Atmin ATM interactor gene DOID:630 genetic disease ISO RGD:1603699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036878 Ogfod3 2-oxoglutarate and iron dependent oxygenase domain containing 3 gene DOID:630 genetic disease ISO RGD:1602867 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036899 Pacrg parkin coregulated gene DOID:0060368 Parkinson's disease 2 ISO RGD:1352616 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2 | ClinVar Annotator: match by term: Young-onset Parkinson disease PMID:12116199|PMID:12707451|PMID:12730996|PMID:15606901|PMID:16328510|PMID:16643317|PMID:19162522|PMID:19636047|PMID:20399249|PMID:21348451|PMID:21694720|PMID:21993715|PMID:25741868|PMID:25833766|PMID:26467025|PMID:26683220|PMID:28492532|PMID:33045815|PMID:33150996|PMID:33166806 9036899 Pacrg parkin coregulated gene DOID:0080855 Parkinsonism ISO RGD:1352616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Juvenile 9036899 Pacrg parkin coregulated gene DOID:3910 lung adenocarcinoma ISO RGD:1352616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:12719539 9036899 Pacrg parkin coregulated gene DOID:5419 schizophrenia ISO RGD:1352616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9036899 Pacrg parkin coregulated gene DOID:630 genetic disease ISO RGD:1352616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036916 Chst2 carbohydrate sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1315916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036921 Ca9 carbonic anhydrase 9 gene DOID:0060074 ductal carcinoma in situ ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 9036921 Ca9 carbonic anhydrase 9 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9036921 Ca9 carbonic anhydrase 9 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1315034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 9036921 Ca9 carbonic anhydrase 9 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1315034 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9036921 Ca9 carbonic anhydrase 9 gene DOID:0080365 endometrial hyperplasia ISO RGD:1315034 D RGD:9068941 20200609 RGD protein:altered localization:membrane, endometrium PMID:17452774|REF_RGD_ID:2298945 9036921 Ca9 carbonic anhydrase 9 gene DOID:0080942 anauxetic dysplasia ISO RGD:1315034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 9036921 Ca9 carbonic anhydrase 9 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1315034 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 9036921 Ca9 carbonic anhydrase 9 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9036921 Ca9 carbonic anhydrase 9 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:14520462|REF_RGD_ID:2293197 9036921 Ca9 carbonic anhydrase 9 gene DOID:2043 hepatitis B disease_progression ISO RGD:1315034 D RGD:9068941 20210108 RGD DNA:SNP::rs2071676(human) PMID:32297155|REF_RGD_ID:40903057 9036921 Ca9 carbonic anhydrase 9 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:15069539|REF_RGD_ID:2298947 9036921 Ca9 carbonic anhydrase 9 gene DOID:3459 breast carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:17245699|REF_RGD_ID:2293195 9036921 Ca9 carbonic anhydrase 9 gene DOID:3883 Lynch syndrome ISO RGD:1315034 D RGD:9068941 20220916 RGD protein:increased expression:colorectum PMID:17855694|REF_RGD_ID:155226867 9036921 Ca9 carbonic anhydrase 9 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30381462 9036921 Ca9 carbonic anhydrase 9 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1315327 D RGD:9068941 20220916 RGD PMID:23910904|REF_RGD_ID:155226863 9036921 Ca9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:12883698|REF_RGD_ID:2293199 9036921 Ca9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1315034 D RGD:9068941 20200609 RGD DNA, mRNA:hypomethylation, increased expression:promoter, kidney PMID:11506497|REF_RGD_ID:2293201 9036921 Ca9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma ISO RGD:1315034 D RGD:9068941 20200609 RGD protein:increased expression:serum, urine PMID:12966427|REF_RGD_ID:2293198 9036921 Ca9 carbonic anhydrase 9 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:18464292|REF_RGD_ID:2293191 9036921 Ca9 carbonic anhydrase 9 gene DOID:630 genetic disease ISO RGD:1315034 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036921 Ca9 carbonic anhydrase 9 gene DOID:6432 pulmonary hypertension ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20110409 9036921 Ca9 carbonic anhydrase 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1315034 D RGD:9068941 20220916 RGD mRNA:altered expression:liver PMID:29900055|REF_RGD_ID:155226869 9036921 Ca9 carbonic anhydrase 9 gene DOID:8552 chronic myeloid leukemia ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 9036921 Ca9 carbonic anhydrase 9 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1315034 D RGD:9068941 20200609 RGD associated with Cervix Neoplasms PMID:17233814|REF_RGD_ID:2293196 9036921 Ca9 carbonic anhydrase 9 gene DOID:9000156 Metaplasia ISO RGD:1315034 D RGD:9068941 20200609 RGD protein:altered localization:membrane, endometrium PMID:17429140|REF_RGD_ID:2298946 9036921 Ca9 carbonic anhydrase 9 gene DOID:9000784 Fibrosis ISO RGD:1315034 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;mRNA:increased expression:breast PMID:18483361|REF_RGD_ID:2293190 9036921 Ca9 carbonic anhydrase 9 gene DOID:9002141 Anaplasia ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19808899 9036921 Ca9 carbonic anhydrase 9 gene DOID:9002669 Hypoxia ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16954440 9036921 Ca9 carbonic anhydrase 9 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:12687273|REF_RGD_ID:2293200 9036921 Ca9 carbonic anhydrase 9 gene DOID:9003373 Uterine Cervical Neoplasms treatment ISO RGD:1315034 D RGD:9068941 20200609 RGD PMID:17308115|REF_RGD_ID:2293193 9036921 Ca9 carbonic anhydrase 9 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:1315034 D RGD:9068941 20200609 RGD protein:altered localization:membrane, endometrium PMID:17452774|REF_RGD_ID:2298945 9036921 Ca9 carbonic anhydrase 9 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1306426 D RGD:9068941 20200609 RGD PMID:17280655|REF_RGD_ID:2293194 9036921 Ca9 carbonic anhydrase 9 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:1306426 D RGD:9068941 20200609 RGD associated with Anoxia;protein:increased expression:heart right ventricle PMID:16714773|REF_RGD_ID:2293204 9036921 Ca9 carbonic anhydrase 9 gene DOID:9008138 Ductal Carcinoma ISO RGD:1315034 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20526721 9036921 Ca9 carbonic anhydrase 9 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315034 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9036921 Ca9 carbonic anhydrase 9 gene DOID:9870 galactosemia ISO RGD:1315034 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9036935 Bbs10 Bardet-Biedl syndrome 10 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:1605944 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:16582908|PMID:17106446|PMID:17980398|PMID:19190184|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22410627|PMID:22773737|PMID:23591405|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25366773|PMID:25741868|PMID:25982971|PMID:26467025|PMID:27032803|PMID:27385962|PMID:27449316|PMID:27486776|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709|PMID:31196119 9036935 Bbs10 Bardet-Biedl syndrome 10 gene DOID:0110132 Bardet-Biedl syndrome 10 ISO RGD:1605944 D RGD:7240710 20180130 OMIM 9036935 Bbs10 Bardet-Biedl syndrome 10 gene DOID:0110132 Bardet-Biedl syndrome 10 ISO RGD:1605944 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: BBS10-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:22995991|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24488770|PMID:24611592|PMID:24746959|PMID:25133751|PMID:25170860|PMID:25326635|PMID:25366773|PMID:25412400|PMID:25439097|PMID:25741868|PMID:25966130|PMID:25982971|PMID:25988237|PMID:26003401|PMID:26273430|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27449316|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27959697|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:29261186|PMID:29806606|PMID:30335236|PMID:30408610|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31639430|PMID:32448990|PMID:32531858|PMID:33964006|PMID:34940782|PMID:35112343|PMID:36312387|PMID:9536098 9036935 Bbs10 Bardet-Biedl syndrome 10 gene DOID:10584 retinitis pigmentosa ISO RGD:1605944 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16582908|PMID:20120035|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:24400638|PMID:24746959|PMID:25741868|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709|PMID:35112343 9036935 Bbs10 Bardet-Biedl syndrome 10 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1605944 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:22995991|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24488770|PMID:24611592|PMID:24746959|PMID:25133751|PMID:25170860|PMID:25326635|PMID:25366773|PMID:25412400|PMID:25439097|PMID:25741868|PMID:25966130|PMID:25982971|PMID:26003401|PMID:26273430|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27449316|PMID:2748677|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27959697|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:28991257|PMID:29261186|PMID:29666954|PMID:29806606|PMID:29947050|PMID:30335236|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31639430|PMID:32361989|PMID:32448990|PMID:32531858|PMID:33964006|PMID:34940782|PMID:35112343|PMID:36312387|PMID:5982971|PMID:9536098 9036935 Bbs10 Bardet-Biedl syndrome 10 gene DOID:630 genetic disease ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12083524|PMID:16582908|PMID:17576681|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22410627|PMID:24400638|PMID:24746959|PMID:25741868|PMID:25982971|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30335236|PMID:30614526|PMID:30718709|PMID:8861908|PMID:9536098 9036935 Bbs10 Bardet-Biedl syndrome 10 gene DOID:8501 fundus dystrophy ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16582908|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22410627|PMID:22773737|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25741868|PMID:25982971|PMID:26003401|PMID:26467025|PMID:27385962|PMID:27486776|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:30614526|PMID:30718709 9036935 Bbs10 Bardet-Biedl syndrome 10 gene DOID:9001069 Bardet-Biedl Syndrome 6/10, Digenic ISO RGD:1605944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 6/10, digenic PMID:16582908|PMID:20120035|PMID:20805367|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:24400638|PMID:24746959|PMID:25741868|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709 9036941 Fxyd3 FXYD domain containing ion transport regulator 3 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1348403 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 9036941 Fxyd3 FXYD domain containing ion transport regulator 3 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1348403 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9036941 Fxyd3 FXYD domain containing ion transport regulator 3 gene DOID:1793 pancreatic cancer ISO RGD:1348403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16003754 9036941 Fxyd3 FXYD domain containing ion transport regulator 3 gene DOID:543 dystonia ISO RGD:1348403 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 9036941 Fxyd3 FXYD domain containing ion transport regulator 3 gene DOID:630 genetic disease ISO RGD:1348403 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036941 Fxyd3 FXYD domain containing ion transport regulator 3 gene DOID:9775 diastolic heart failure ISO RGD:1348403 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 9036953 Bcl9 BCL9 transcription coactivator gene DOID:0060041 autism spectrum disorder ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 9036953 Bcl9 BCL9 transcription coactivator gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 9036953 Bcl9 BCL9 transcription coactivator gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1315830 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 9036953 Bcl9 BCL9 transcription coactivator gene DOID:0110231 cataract 1 multiple types ISO RGD:1315830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 9036953 Bcl9 BCL9 transcription coactivator gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 9036953 Bcl9 BCL9 transcription coactivator gene DOID:1540 parathyroid carcinoma ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9036953 Bcl9 BCL9 transcription coactivator gene DOID:5419 schizophrenia ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9036953 Bcl9 BCL9 transcription coactivator gene DOID:630 genetic disease ISO RGD:1315830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036953 Bcl9 BCL9 transcription coactivator gene DOID:9002762 Ovarian Neoplasms ISO RGD:1315830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22024689 9036953 Bcl9 BCL9 transcription coactivator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9036953 Bcl9 BCL9 transcription coactivator gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9036988 Usp13 ubiquitin specific peptidase 13 gene DOID:0111546 Currarino syndrome ISO RGD:1314436 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 9036988 Usp13 ubiquitin specific peptidase 13 gene DOID:0111801 syndromic microphthalmia 3 ISO RGD:1314436 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:16543359 9036988 Usp13 ubiquitin specific peptidase 13 gene DOID:37 skin disease ISO RGD:1314436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9036988 Usp13 ubiquitin specific peptidase 13 gene DOID:630 genetic disease ISO RGD:1314436 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9036988 Usp13 ubiquitin specific peptidase 13 gene DOID:9007964 Arsenic Poisoning ISO RGD:1314436 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:0060041 autism spectrum disorder ISO RGD:68590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18252227|PMID:20844286 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:0060319 cardiac arrest ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrest 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:0070063 autosomal dominant intellectual developmental disorder 33 ISO RGD:68590 D RGD:7240710 20180130 OMIM 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:0070063 autosomal dominant intellectual developmental disorder 33 ISO RGD:68590 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 33 PMID:23832105|PMID:25741868|PMID:34008892 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:1059 intellectual disability ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:12377 spinal muscular atrophy susceptibility ISO RGD:68590 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs10260404) (human) PMID:19332697|REF_RGD_ID:5687182 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:12849 autistic disorder ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:2843 long QT syndrome ISO RGD:68590 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18084291 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:68590 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs10260404 (human) PMID:18708572|REF_RGD_ID:5687188 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:68590 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs10260404 (human) PMID:20137488|REF_RGD_ID:5687181 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:5419 schizophrenia ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:9002426 Ventricular Fibrillation, Paroxysmal Familial, 2 ISO RGD:68590 D RGD:7240710 20180130 OMIM 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:9002426 Ventricular Fibrillation, Paroxysmal Familial, 2 ISO RGD:68590 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, 2 PMID:19285295|PMID:25741868 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:68590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:9004416 Paroxysmal Ventricular Fibrillation ISO RGD:68590 D RGD:9068941 20200609 RGD PMID:19285295|REF_RGD_ID:5687186 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:9005141 Ventricular Tachycardia ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:9007925 Sudden Cardiac Death ISO RGD:68590 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac death 9037012 Dpp6 dipeptidyl peptidase like 6 gene DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 ISO RGD:68590 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:25741868 9037052 Spem1 spermatid maturation 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1602954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9037052 Spem1 spermatid maturation 1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1602954 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 9037052 Spem1 spermatid maturation 1 gene DOID:1059 intellectual disability ISO RGD:1602954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9037052 Spem1 spermatid maturation 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1602954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9037052 Spem1 spermatid maturation 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1602954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9037052 Spem1 spermatid maturation 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1602954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 9037052 Spem1 spermatid maturation 1 gene DOID:4258 Weissenbacher-Zweymuller syndrome ISO RGD:1602954 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate 9037052 Spem1 spermatid maturation 1 gene DOID:630 genetic disease ISO RGD:1602954 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037059 Unc13c unc-13 homolog C gene DOID:11836 clubfoot ISO RGD:1354378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Clubfoot PMID:25741868 9037059 Unc13c unc-13 homolog C gene DOID:2717 Bloom syndrome ISO RGD:1354378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9037059 Unc13c unc-13 homolog C gene DOID:630 genetic disease ISO RGD:1354378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037059 Unc13c unc-13 homolog C gene DOID:9256 colorectal cancer ISO RGD:1354378 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:735247 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:1059 intellectual disability ISO RGD:735247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:10754 otitis media ISO RGD:3934 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:epithelial cell PMID:15799573|REF_RGD_ID:5144051 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:11049 meconium aspiration syndrome ISO RGD:735247 D RGD:9068941 20200609 RGD protein:increased expression:broncho-alveolar lavage fluid, meconium: PMID:21567110|REF_RGD_ID:5144123 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:11650 bronchopulmonary dysplasia ISO RGD:735247 D RGD:9068941 20200609 RGD PMID:11435254|REF_RGD_ID:5144211 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:11475 D RGD:9068941 20200609 RGD PMID:12847279|REF_RGD_ID:5144208 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:735247 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15467329|REF_RGD_ID:5144148 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2799 bronchiolitis obliterans ISO RGD:735247 D RGD:9068941 20200609 RGD associated with lung transplantation; protein:decreased expression:serum,bronchoalveolar lavage PMID:11981419|REF_RGD_ID:5147386 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2841 asthma ISO RGD:735247 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Asthma, susceptibility to PMID:12100044|PMID:9550363|PMID:9643286 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2841 asthma susceptibility ISO RGD:735247 D RGD:9068941 20200609 RGD associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) PMID:21255142|REF_RGD_ID:5144226 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2921 glomerulonephritis ISO RGD:735247 D RGD:9068941 20200609 RGD recombinant human SCGB1A1 in "experimental crescentic glomerulonephritis" model (mice) PMID:18558621|REF_RGD_ID:6903251 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2986 IgA glomerulonephritis ISO RGD:11475 D RGD:9068941 20220825 MouseDO OMIM:161950 | OMIM:616818 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:735247 D RGD:9068941 20200609 RGD PMID:11967037|REF_RGD_ID:6903255 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:3021 acute kidney failure ISO RGD:3934 D RGD:9068941 20200609 RGD associated with LPS induced endotoxemia PMID:18824919|REF_RGD_ID:2313129 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735247 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic obstructive pulmonary disease 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:3934 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:lung PMID:16369113|REF_RGD_ID:5144139 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:735247 D RGD:9068941 20200609 RGD associated with scleroderma, systemic; protein:increased expression:serum: PMID:21239758|REF_RGD_ID:5144130 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:4481 allergic rhinitis ISO RGD:11475 D RGD:9068941 20200609 RGD mRNA:decreased expression:nasal mucosa, lung PMID:17882576|REF_RGD_ID:5144135 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:850 lung disease ISO RGD:735247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16052892 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:11475 D RGD:9068941 20200609 RGD PMID:11597923|REF_RGD_ID:5144210 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:11475 D RGD:9068941 20200609 RGD PMID:15608088|REF_RGD_ID:5144143 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:11475 D RGD:9068941 20200609 RGD PMID:16226776|REF_RGD_ID:5144142 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9004610 Acute Lung Injury ISO RGD:3934 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:18420837|REF_RGD_ID:5143982 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9004659 Respiration Disorders ISO RGD:735247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18288317 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9005372 Inflammation ISO RGD:735247 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16052892 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9006182 Carotid Artery Injuries ISO RGD:3934 D RGD:9068941 20200609 RGD PMID:11107082|REF_RGD_ID:5144055 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9007480 Hyperoxia ISO RGD:11475 D RGD:9068941 20200609 RGD mRNA:decreased expression:epithelial cell PMID:9555576|REF_RGD_ID:5144215 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:735247 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:nasal lavage fluid PMID:15836756|REF_RGD_ID:5144234 9037096 Scgb1a1 secretoglobin family 1A member 1 gene DOID:9498 pulmonary eosinophilia ISO RGD:735247 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:15467329|REF_RGD_ID:5144148 9037106 Arb2a ARB2 cotranscriptional regulator A gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605018 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9037106 Arb2a ARB2 cotranscriptional regulator A gene DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome ISO RGD:1605018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome PMID:24462372 9037106 Arb2a ARB2 cotranscriptional regulator A gene DOID:630 genetic disease ISO RGD:1605018 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037106 Arb2a ARB2 cotranscriptional regulator A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605018 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9037106 Arb2a ARB2 cotranscriptional regulator A gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605018 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9037134 Gzmk granzyme K gene DOID:630 genetic disease ISO RGD:68588 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037134 Gzmk granzyme K gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68588 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9037143 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:0080284 developmental and epileptic encephalopathy 57 ISO RGD:1351112 D RGD:7240710 20190315 OMIM 9037143 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:0080284 developmental and epileptic encephalopathy 57 ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 57 PMID:24166878|PMID:25741868|PMID:26724206|PMID:29069600|PMID:29314763|PMID:29740868|PMID:32038177|PMID:32773162 9037143 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9037143 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:1826 epilepsy ISO RGD:1351112 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:32038177 9037143 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis PMID:32581362 9037143 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:630 genetic disease ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24166878|PMID:25741868|PMID:26724206|PMID:29069600|PMID:29314763|PMID:29740868|PMID:32773162 9037143 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: KCNT2-related condition PMID:25741868|PMID:29069600 9037143 Kcnt2 potassium sodium-activated channel subfamily T member 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:737617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:737617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:737617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:737617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:737617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:10652 Alzheimer's disease ISO RGD:737617 D RGD:9068941 20200609 RGD PMID:14746899|REF_RGD_ID:1642360 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:12849 autistic disorder ISO RGD:737617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:1307 dementia ISO RGD:737617 D RGD:9068941 20200609 RGD associated with Parkinson Disease PMID:14746899|REF_RGD_ID:1642360 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:630 genetic disease ISO RGD:737617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:737617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9007993 Dehydration ISO RGD:3617 D RGD:9068941 20211112 RGD PMID:17412804|REF_RGD_ID:1642352 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9970 obesity ISO RGD:3617 D RGD:9068941 20211112 RGD PMID:15012590|REF_RGD_ID:1642350 9037178 Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor gene DOID:9970 obesity ISO RGD:737618 D RGD:9068941 20200609 RGD protein:increased expression:brainstem PMID:11680901|REF_RGD_ID:1642351 9037186 Atxn7l1 ataxin 7 like 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345348 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9037186 Atxn7l1 ataxin 7 like 1 gene DOID:630 genetic disease ISO RGD:1345348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037244 Arx aristaless related homeobox gene DOID:0050453 lissencephaly ISO RGD:1557424 D RGD:9068941 20220825 MouseDO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 9037244 Arx aristaless related homeobox gene DOID:0050562 West syndrome ISO RGD:1557424 D RGD:9068941 20200609 RGD PMID:19439424|REF_RGD_ID:11565833 9037244 Arx aristaless related homeobox gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1557424 D RGD:9068941 20220825 MouseDO OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476 9037244 Arx aristaless related homeobox gene DOID:0060309 syndromic X-linked intellectual disability ISO RGD:1557424 D RGD:9068941 20220825 MouseDO 9037244 Arx aristaless related homeobox gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9037244 Arx aristaless related homeobox gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1344380 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P353L (human) PMID:12177367|REF_RGD_ID:11565831 9037244 Arx aristaless related homeobox gene DOID:0060806 syndromic X-linked intellectual disability Hedera type ISO RGD:1557424 D RGD:9068941 20200609 RGD PMID:19605412|REF_RGD_ID:11565840 9037244 Arx aristaless related homeobox gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1344380 D RGD:7240710 20180130 OMIM 9037244 Arx aristaless related homeobox gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1344380 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:10353782|PMID:10398246|PMID:11889467|PMID:11971879|PMID:12116222|PMID:12177367|PMID:12376938|PMID:12376946|PMID:12376949|PMID:12379852|PMID:12640086|PMID:12874418|PMID:14722918|PMID:15151512|PMID:15200506|PMID:15726411|PMID:15850492|PMID:16078051|PMID:16199547|PMID:16235064|PMID:16523516|PMID:16995578|PMID:17331656|PMID:17480217|PMID:17490853|PMID:17576681|PMID:17641262|PMID:17664401|PMID:17668384|PMID:18414213|PMID:18462864|PMID:19439424|PMID:19507262|PMID:19606478|PMID:19738637|PMID:20148114|PMID:20300201|PMID:20506206|PMID:2080994|PMID:21108397|PMID:21204215|PMID:21204226|PMID:21496008|PMID:22252899|PMID:22922607|PMID:23039062|PMID:23246292|PMID:23757202|PMID:24643514|PMID:24781210|PMID:25741868|PMID:26029707|PMID:26337422|PMID:26467025|PMID:28174645|PMID:28387369|PMID:28492532|PMID:29152528|PMID:29778428|PMID:30108342|PMID:30255221|PMID:31145546|PMID:31324350|PMID:31623504|PMID:31691806|PMID:3177452|PMID:31791873|PMID:32139178|PMID:32313153|PMID:32383243|PMID:32613771|PMID:33951346|PMID:35121198|PMID:5008734|PMID:8826464|PMID:9536098 9037244 Arx aristaless related homeobox gene DOID:0112021 non-syndromic X-linked intellectual disability ARX-related ISO RGD:1344380 D RGD:7240710 20180130 OMIM 9037244 Arx aristaless related homeobox gene DOID:0112021 non-syndromic X-linked intellectual disability ARX-related ISO RGD:1344380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87 | ClinVar Annotator: match by term: Mental retardation, X-linked 52 PMID:10353782|PMID:10398246|PMID:11889467|PMID:11971879|PMID:12116222|PMID:12376938|PMID:12376946|PMID:12376949|PMID:12379852|PMID:12640086|PMID:14722918|PMID:15151512|PMID:15200506|PMID:15850492|PMID:16078051|PMID:16235064|PMID:17331656|PMID:17480217|PMID:17641262|PMID:18414213|PMID:19439424|PMID:19738637|PMID:20300201|PMID:20506206|PMID:2080994|PMID:21204215|PMID:21204226|PMID:21496008|PMID:25741868|PMID:26029707|PMID:28150386|PMID:28492532|PMID:30255221|PMID:3177452|PMID:32383243|PMID:32519823|PMID:33847015|PMID:5008734|PMID:8826464 9037244 Arx aristaless related homeobox gene DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome ISO RGD:1344380 D RGD:7240710 20180130 OMIM 9037244 Arx aristaless related homeobox gene DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome ISO RGD:1344380 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome PMID:14722918|PMID:1605226|PMID:18414213|PMID:22252899|PMID:25741868|PMID:34298581 9037244 Arx aristaless related homeobox gene DOID:0112238 X-linked lissencephaly 2 ISO RGD:1344380 D RGD:7240710 20180130 OMIM 9037244 Arx aristaless related homeobox gene DOID:0112238 X-linked lissencephaly 2 ISO RGD:1344380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia PMID:11889467|PMID:11891829|PMID:12379852|PMID:12874405|PMID:12874418|PMID:14722918|PMID:17664401|PMID:18414213|PMID:18462864|PMID:19439424|PMID:19738637|PMID:20300201|PMID:22252899|PMID:22922607|PMID:23246292|PMID:23757202|PMID:24781210|PMID:25741868|PMID:26029707|PMID:28492532|PMID:32139178 9037244 Arx aristaless related homeobox gene DOID:1059 intellectual disability ISO RGD:1344380 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14722918|PMID:18414213|PMID:25741868|PMID:28492532 9037244 Arx aristaless related homeobox gene DOID:10908 hydrocephalus ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 9037244 Arx aristaless related homeobox gene DOID:12849 autistic disorder ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9037244 Arx aristaless related homeobox gene DOID:14744 Partington syndrome ISO RGD:1344380 D RGD:7240710 20180130 OMIM 9037244 Arx aristaless related homeobox gene DOID:14744 Partington syndrome ISO RGD:1344380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome PMID:10353782|PMID:10398246|PMID:11889467|PMID:11971879|PMID:12116222|PMID:12376938|PMID:12376946|PMID:12376949|PMID:12640086|PMID:15151512|PMID:15200506|PMID:15850492|PMID:16078051|PMID:16235064|PMID:17331656|PMID:17480217|PMID:20506206|PMID:2080994|PMID:21204215|PMID:25741868|PMID:26029707|PMID:28492532|PMID:3177452|PMID:5008734|PMID:8826464 9037244 Arx aristaless related homeobox gene DOID:1826 epilepsy ISO RGD:1344380 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 9037244 Arx aristaless related homeobox gene DOID:630 genetic disease ISO RGD:1344380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14722918|PMID:15248097|PMID:16235064|PMID:16523516|PMID:17331656|PMID:17641262|PMID:18414213|PMID:18462864|PMID:20384723|PMID:20506206|PMID:21204215|PMID:21204226|PMID:21426321|PMID:21496008|PMID:23039062|PMID:25741868|PMID:26029707|PMID:26467025|PMID:28492532 9037244 Arx aristaless related homeobox gene DOID:8461 Aicardi syndrome ISO RGD:1344380 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Aicardi syndrome PMID:25741868 9037244 Arx aristaless related homeobox gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868 9037244 Arx aristaless related homeobox gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9037244 Arx aristaless related homeobox gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1344380 D RGD:9068941 20200609 RGD DNA:duplication:exon:c.428-451dup (human) PMID:15850492|REF_RGD_ID:11565836 9037244 Arx aristaless related homeobox gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1344380 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.L33P (human) PMID:11971879|REF_RGD_ID:1599257 9037244 Arx aristaless related homeobox gene DOID:9009131 Ventriculomegaly ISO RGD:1344380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 9037244 Arx aristaless related homeobox gene DOID:9352 type 2 diabetes mellitus ISO RGD:1562672 D RGD:9068941 20200609 RGD PMID:16772326|REF_RGD_ID:1599258 9037256 RAD51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:9068941 20240321 RGD DNA:SNPs PMID:16624550|REF_RGD_ID:2292637 9037256 RAD51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:9068941 20240321 RGD DNA:deletion, loss of heterozygosity PMID:17180310|REF_RGD_ID:2292636 9037256 RAD51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:9068941 20240321 RGD DNA:polymorphism: :135G>C PMID:17999359|REF_RGD_ID:2292634 9037256 RAD51 RAD51 recombinase gene DOID:1612 breast cancer susceptibility ISO RGD:1316727 D RGD:9068941 20240321 RGD DNA:repeat PMID:18429825|REF_RGD_ID:2292632 9037256 Rad51 RAD51 recombinase gene DOID:0050700 cardiomyopathy treatment ISO RGD:1563603 D RGD:9068941 20200609 RGD PMID:22384017|REF_RGD_ID:7240549 9037256 Rad51 RAD51 recombinase gene DOID:0111090 Fanconi anemia complementation group R ISO RGD:1316727 D RGD:7240710 20240320 OMIM 9037256 Rad51 RAD51 recombinase gene DOID:0111090 Fanconi anemia complementation group R ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group R PMID:15908697|PMID:25741868|PMID:26253028|PMID:26681308 9037256 Rad51 RAD51 recombinase gene DOID:10763 hypertension treatment ISO RGD:1563603 D RGD:9068941 20210611 RGD PMID:24239235|REF_RGD_ID:8693672 9037256 Rad51 RAD51 recombinase gene DOID:1612 breast cancer ISO RGD:1316727 D RGD:7240710 20240320 OMIM 9037256 Rad51 RAD51 recombinase gene DOID:1612 breast cancer resistance ISO RGD:1316727 D RGD:9068941 20200609 RGD DNA:polymorphism: :135G>C PMID:17301259|REF_RGD_ID:2298722 9037256 Rad51 RAD51 recombinase gene DOID:1793 pancreatic cancer ISO RGD:1563603 D RGD:9068941 20200609 RGD protein:increased expression:pancreas (rat) PMID:20197614|REF_RGD_ID:9831172 9037256 Rad51 RAD51 recombinase gene DOID:2152 ovary epithelial cancer no_association ISO RGD:1316727 D RGD:9068941 20200609 RGD DNA:polymorphisms: :135G>C, 172G>T PMID:15924337|REF_RGD_ID:2298723 9037256 Rad51 RAD51 recombinase gene DOID:2394 ovarian cancer ISO RGD:1316727 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 9037256 Rad51 RAD51 recombinase gene DOID:2394 ovarian cancer resistance ISO RGD:1316727 D RGD:9068941 20200609 RGD DNA:polymorphism: :135G>C PMID:17301259|REF_RGD_ID:2298722 9037256 Rad51 RAD51 recombinase gene DOID:2717 Bloom syndrome ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9037256 Rad51 RAD51 recombinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers PMID:11248061|PMID:17999359 9037256 Rad51 RAD51 recombinase gene DOID:630 genetic disease ISO RGD:1316727 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15908697|PMID:25741868|PMID:26681308|PMID:28492532 9037256 Rad51 RAD51 recombinase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1316727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 9037256 Rad51 RAD51 recombinase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1563603 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17219426|REF_RGD_ID:2292638 9037256 Rad51 RAD51 recombinase gene DOID:9002669 Hypoxia ISO RGD:1563603 D RGD:9068941 20200609 RGD associated with Gliosarcoma;mRNA:decreased expression:tumor (rat) PMID:21266355|REF_RGD_ID:9831171 9037256 Rad51 RAD51 recombinase gene DOID:9003461 Mirror Movements 2 ISO RGD:1316727 D RGD:7240710 20240320 OMIM 9037256 Rad51 RAD51 recombinase gene DOID:9003461 Mirror Movements 2 ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 2 PMID:10807537|PMID:21242494|PMID:22305526|PMID:24808016|PMID:25741868|PMID:25813273|PMID:27830107|PMID:28492532|PMID:33116287 9037256 Rad51 RAD51 recombinase gene DOID:9006169 Head and Neck Neoplasms ISO RGD:1316727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22613844 9037256 Rad51 RAD51 recombinase gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1316727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9885240 9037256 Rad51 RAD51 recombinase gene DOID:9006728 Triple Negative Breast Neoplasms ISO RGD:1316727 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:34998818 9037256 Rad51 RAD51 recombinase gene DOID:9008939 Breast Neoplasms ISO RGD:1316727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9037256 Rad51 RAD51 recombinase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1316727 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10807537|PMID:21242494|PMID:22305526|PMID:25741868|PMID:27830107|PMID:28492532|PMID:33116287 9037256 Rad51 RAD51 recombinase gene DOID:9256 colorectal cancer ISO RGD:1316727 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9037274 Hif3a hypoxia inducible factor 3 subunit alpha gene DOID:630 genetic disease ISO RGD:1605351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037274 Hif3a hypoxia inducible factor 3 subunit alpha gene DOID:6432 pulmonary hypertension ISO RGD:70332 D RGD:9068941 20200609 RGD PMID:16215633|REF_RGD_ID:10395375 9037274 Hif3a hypoxia inducible factor 3 subunit alpha gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:70332 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney cortex, kidney medulla (rat) PMID:32416216|REF_RGD_ID:401793731 9037363 Gpatch2l G-patch domain containing 2 like gene DOID:1059 intellectual disability ISO RGD:1318945 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9037363 Gpatch2l G-patch domain containing 2 like gene DOID:630 genetic disease ISO RGD:1318945 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037394 Cmbl carboxymethylenebutenolidase homolog gene DOID:630 genetic disease ISO RGD:1606460 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037414 Etv4 ETS variant transcription factor 4 gene DOID:0080205 CAKUT ISO RGD:1315190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:30143558 9037414 Etv4 ETS variant transcription factor 4 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 9037414 Etv4 ETS variant transcription factor 4 gene DOID:630 genetic disease ISO RGD:1315190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037414 Etv4 ETS variant transcription factor 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869830 9037414 Etv4 ETS variant transcription factor 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:27783944 9037414 Etv4 ETS variant transcription factor 4 gene DOID:9008192 Neoplastic Processes ISO RGD:1315190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 9037414 Etv4 ETS variant transcription factor 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1315190 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21679465 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:0070271 Lynch syndrome 1 ISO RGD:1349068 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:24728327|PMID:25741868|PMID:28492532 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:0080745 polymyositis ISO RGD:1349068 D RGD:9068941 20200609 RGD PMID:15856462|REF_RGD_ID:2324870 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:0111944 immunodeficiency 31B ISO RGD:1349068 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:10223 dermatomyositis ISO RGD:1349068 D RGD:9068941 20200609 RGD PMID:15856462|REF_RGD_ID:2324870 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:1612 breast cancer ISO RGD:1349068 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: PMS1-related breast cancer PMID:24728327|PMID:25741868 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:2394 ovarian cancer ISO RGD:1349068 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1349068 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic duct PMID:15856462|REF_RGD_ID:2324870 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:3883 Lynch syndrome ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Lynch syndrome PMID:25741868 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:24728327|PMID:25741868 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:630 genetic disease ISO RGD:1349068 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:9002304 Prostatic Neoplasms ISO RGD:1349068 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:9004271 Colonic Polyps ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colon polyps PMID:25637381 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9037443 Pms1 PMS1 homolog 1, mismatch repair system component gene DOID:9256 colorectal cancer ISO RGD:1349068 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 9037460 Pcid2 PCI domain containing 2 gene DOID:1247 blood coagulation disease ISO RGD:1601857 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Protein Z deficiency 9037460 Pcid2 PCI domain containing 2 gene DOID:2213 hemorrhagic disease ISO RGD:1601857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 9037460 Pcid2 PCI domain containing 2 gene DOID:2222 factor X deficiency ISO RGD:1601857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 9037460 Pcid2 PCI domain containing 2 gene DOID:630 genetic disease ISO RGD:1601857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037478 Ipo4 importin 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1313095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 9037478 Ipo4 importin 4 gene DOID:3910 lung adenocarcinoma ISO RGD:1313095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9037478 Ipo4 importin 4 gene DOID:630 genetic disease ISO RGD:1313095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037478 Ipo4 importin 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1313095 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 9037478 Ipo4 importin 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1313095 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9037478 Ipo4 importin 4 gene DOID:9006205 Animal Disease Models ISO RGD:1313095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9037520 Satb2 SATB homeobox 2 gene DOID:0050753 cerebellar ataxia ISO RGD:1343440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868 9037520 Satb2 SATB homeobox 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1343440 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9037520 Satb2 SATB homeobox 2 gene DOID:0060428 SATB2-associated syndrome ISO RGD:1343440 D RGD:7240710 20180130 OMIM 9037520 Satb2 SATB homeobox 2 gene DOID:0060428 SATB2-associated syndrome ISO RGD:1343440 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome | ClinVar Annotator: match by term: SATB2 associated disorder | ClinVar Annotator: match by term: SATB2-Related Disorder | ClinVar Annotator: match by term: SATB2-associated syndrome | ClinVar Annotator: match by term: SATB2-related condition PMID:16199547|PMID:17377962|PMID:17576681|PMID:21343628|PMID:23788249|PMID:23925499|PMID:24301056|PMID:24884844|PMID:25118029|PMID:25251319|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25533962|PMID:25640679|PMID:25741868|PMID:25885067|PMID:26596517|PMID:26944241|PMID:27774744|PMID:28135719|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:28708303|PMID:28787087|PMID:29023086|PMID:29436146|PMID:30575289|PMID:30848049|PMID:31021519|PMID:31279624|PMID:31302918|PMID:31440721|PMID:31849593|PMID:32581362|PMID:33004838|PMID:33274544|PMID:33624935|PMID:9536098 9037520 Satb2 SATB homeobox 2 gene DOID:0110213 isolated cleft palate ISO RGD:1343440 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Isolated cleft palate PMID:25326635|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:32581362 9037520 Satb2 SATB homeobox 2 gene DOID:1059 intellectual disability ISO RGD:1343440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency PMID:17377962|PMID:23925499|PMID:24301056|PMID:25741868|PMID:25885067|PMID:28151491|PMID:28492532|PMID:29023086 9037520 Satb2 SATB homeobox 2 gene DOID:5409 lung small cell carcinoma ISO RGD:1343440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941189 9037520 Satb2 SATB homeobox 2 gene DOID:543 dystonia ISO RGD:1343440 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25326635|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:32581362 9037520 Satb2 SATB homeobox 2 gene DOID:630 genetic disease ISO RGD:1343440 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12915443|PMID:17576681|PMID:18187506|PMID:21089028|PMID:24884844|PMID:25326635|PMID:25356970|PMID:25533962|PMID:25662172|PMID:25741868|PMID:25885067|PMID:26596517|PMID:26944241|PMID:27409069|PMID:27462121|PMID:28139846|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:29436146|PMID:30575289|PMID:31021519|PMID:31302918|PMID:31440721|PMID:32581362|PMID:33274544|PMID:9536098 9037520 Satb2 SATB homeobox 2 gene DOID:674 cleft palate ISO RGD:1343440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:17377962|PMID:23925499|PMID:24301056|PMID:25741868|PMID:25885067|PMID:28492532|PMID:29023086 9037520 Satb2 SATB homeobox 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343440 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:24884844|PMID:25326635|PMID:25533962|PMID:25741868|PMID:25885067|PMID:26596517|PMID:28151491|PMID:28211976|PMID:28492532|PMID:29023086|PMID:31021519|PMID:31302918|PMID:32581362 9037520 Satb2 SATB homeobox 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1343440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26780400 9037520 Satb2 SATB homeobox 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1343440 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:31849593 9037520 Satb2 SATB homeobox 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 9037520 Satb2 SATB homeobox 2 gene DOID:9008582 Developmental Disease ISO RGD:1343440 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9037520 Satb2 SATB homeobox 2 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1343440 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16960803 9037558 Mrrf mitochondrial ribosome recycling factor gene DOID:2661 myoepithelioma ISO RGD:1314201 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9037558 Mrrf mitochondrial ribosome recycling factor gene DOID:630 genetic disease ISO RGD:1314201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037569 Gdpd4 glycerophosphodiester phosphodiesterase domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1602967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9037569 Gdpd4 glycerophosphodiester phosphodiesterase domain containing 4 gene DOID:630 genetic disease ISO RGD:1602967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037593 Pou4f2 POU class 4 homeobox 2 gene DOID:0060742 methylmalonic acidemia cblA type ISO RGD:1346191 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type PMID:15523652|PMID:15781192|PMID:28492532 9037593 Pou4f2 POU class 4 homeobox 2 gene DOID:630 genetic disease ISO RGD:1346191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037625 Zswim8 zinc finger SWIM-type containing 8 gene DOID:630 genetic disease ISO RGD:1344378 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037677 Mynn myoneurin gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1317346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic osteomyelitis 9037677 Mynn myoneurin gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1317346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 9037677 Mynn myoneurin gene DOID:1062 Fanconi syndrome ISO RGD:1317346 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 9037677 Mynn myoneurin gene DOID:630 genetic disease ISO RGD:1317346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037698 Samd15 sterile alpha motif domain containing 15 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1606691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:28492532 9037698 Samd15 sterile alpha motif domain containing 15 gene DOID:630 genetic disease ISO RGD:1606691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037713 LOC102015189 olfactory receptor 52W1 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1353462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9037713 LOC102015189 olfactory receptor 52W1 gene DOID:630 genetic disease ISO RGD:1353462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037741 Ydjc YdjC chitooligosaccharide deacetylase homolog gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:1604990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:21681106|PMID:25741868|PMID:31690835 9037741 Ydjc YdjC chitooligosaccharide deacetylase homolog gene DOID:11198 DiGeorge syndrome ISO RGD:1604990 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:32581362 9037741 Ydjc YdjC chitooligosaccharide deacetylase homolog gene DOID:630 genetic disease ISO RGD:1604990 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:0080162 lupus nephritis treatment ISO RGD:1313167 D RGD:9068941 20200609 RGD mouse model PMID:15494537|REF_RGD_ID:10760401 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:0080162 lupus nephritis treatment ISO RGD:1313168 D RGD:9068941 20200609 RGD mouse model PMID:15494537|REF_RGD_ID:10760401 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:0080162 lupus nephritis treatment ISO RGD:2321675 D RGD:9068941 20200609 RGD mouse model PMID:15494537|REF_RGD_ID:10760401 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:0110698 hypotrichosis 1 ISO RGD:1313167 D RGD:9068941 20200609 RGD DNA:snp:cds:c.1A>G (human) PMID:23246290|REF_RGD_ID:10768831 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:0110708 hypotrichosis 11 ISO RGD:1313167 D RGD:7240710 20180130 OMIM 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:0110708 hypotrichosis 11 ISO RGD:1313167 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypotrichosis 11 PMID:23246290|PMID:25741868|PMID:9621144 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313167 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:10283 prostate cancer severity ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:increased expression:prostate gland (human) PMID:22740892|REF_RGD_ID:10768830 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:1540 parathyroid carcinoma ISO RGD:1313167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:1924 hypogonadism ISO RGD:1313168 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.E51D (mouse) PMID:22258617|REF_RGD_ID:10768832 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:3910 lung adenocarcinoma severity ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:22876301|REF_RGD_ID:10768834 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:4535 hypotrichosis ISO RGD:1313167 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:630 genetic disease ISO RGD:1313167 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:684 hepatocellular carcinoma ISO RGD:1313167 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:21688285|REF_RGD_ID:10768833 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:769 neuroblastoma severity ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:decreased expression:neuroblastoma (human) PMID:17075126|REF_RGD_ID:10755762 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313167 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313167 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:9261 nasopharynx carcinoma ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:increased expression:nasopharynx (human) PMID:24080422|REF_RGD_ID:10755709 9037750 Snrpe small nuclear ribonucleoprotein polypeptide E gene DOID:9952 acute lymphoblastic leukemia severity ISO RGD:1313167 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) PMID:23915977|REF_RGD_ID:10768836 9037766 Tmem250 transmembrane protein 250 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:27891178|PMID:28492532|PMID:31209758 9037766 Tmem250 transmembrane protein 250 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1349018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 9037766 Tmem250 transmembrane protein 250 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1349018 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 9037766 Tmem250 transmembrane protein 250 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9037766 Tmem250 transmembrane protein 250 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1349018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9037766 Tmem250 transmembrane protein 250 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1349018 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 9037766 Tmem250 transmembrane protein 250 gene DOID:0081097 Rafiq syndrome ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 9037766 Tmem250 transmembrane protein 250 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349018 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9037766 Tmem250 transmembrane protein 250 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 9037766 Tmem250 transmembrane protein 250 gene DOID:3652 Leigh disease ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9037766 Tmem250 transmembrane protein 250 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1349018 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 9037785 Cpb2 carboxypeptidase B2 gene DOID:0050855 renal fibrosis ISO RGD:736000 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction; PMID:17988229|REF_RGD_ID:7243118 9037785 Cpb2 carboxypeptidase B2 gene DOID:1184 nephrotic syndrome ISO RGD:731734 D RGD:9068941 20200609 RGD protein:increased activity,increased expression:plasma PMID:12439147|REF_RGD_ID:7243124 9037785 Cpb2 carboxypeptidase B2 gene DOID:13241 Behcet's disease ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:15668188|REF_RGD_ID:1598474 9037785 Cpb2 carboxypeptidase B2 gene DOID:13938 amenorrhea ISO RGD:731734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16167916 9037785 Cpb2 carboxypeptidase B2 gene DOID:2228 thrombocytosis ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:16244771|REF_RGD_ID:1598473 9037785 Cpb2 carboxypeptidase B2 gene DOID:2921 glomerulonephritis ISO RGD:736000 D RGD:9068941 20200609 RGD PMID:18612543|REF_RGD_ID:7243117 9037785 Cpb2 carboxypeptidase B2 gene DOID:630 genetic disease ISO RGD:731734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037785 Cpb2 carboxypeptidase B2 gene DOID:784 chronic kidney disease ISO RGD:731734 D RGD:9068941 20200609 RGD DNA:polymorphism:cds :p.A147T(rs3742264)(human) PMID:19056482|REF_RGD_ID:7243119 9037785 Cpb2 carboxypeptidase B2 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:731734 D RGD:9068941 20200609 RGD DNA:polymorphism: ;1542C>G(human) PMID:17327284|REF_RGD_ID:7243121 9037785 Cpb2 carboxypeptidase B2 gene DOID:9000483 Angina Pectoris ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:12624641|REF_RGD_ID:1598479 9037785 Cpb2 carboxypeptidase B2 gene DOID:9000808 Hypercholesterolemia ISO RGD:731734 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:16123492|REF_RGD_ID:2313641 9037785 Cpb2 carboxypeptidase B2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:731734 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12574207|REF_RGD_ID:7243123 9037785 Cpb2 carboxypeptidase B2 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:731734 D RGD:9068941 20200609 RGD DNA:SNP:cds:1040C>T(human) PMID:22932273|REF_RGD_ID:7243116 9037785 Cpb2 carboxypeptidase B2 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:71035 D RGD:9068941 20200609 RGD PMID:22768796|REF_RGD_ID:7243111 9037785 Cpb2 carboxypeptidase B2 gene DOID:9002906 Multiple Organ Failure ISO RGD:71035 D RGD:9068941 20200609 RGD associated with sepsis, endotoxemia; PMID:19325462|REF_RGD_ID:7243114 9037785 Cpb2 carboxypeptidase B2 gene DOID:9003121 Thromboembolism ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:14739223|REF_RGD_ID:1598476 9037785 Cpb2 carboxypeptidase B2 gene DOID:9004484 Sepsis ISO RGD:71035 D RGD:9068941 20200609 RGD protein:increased activity:plasma: PMID:15497025|REF_RGD_ID:2313648 9037785 Cpb2 carboxypeptidase B2 gene DOID:9005036 Bacteremia ISO RGD:71035 D RGD:9068941 20200609 RGD protein:decreased activity:plasma PMID:17911187|REF_RGD_ID:2313646 9037785 Cpb2 carboxypeptidase B2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:71035 D RGD:9068941 20200609 RGD mRNA,protein:increased expression,increased activity:liver,plasma PMID:19386599|REF_RGD_ID:7243112 9037785 Cpb2 carboxypeptidase B2 gene DOID:9007692 Insulin Resistance ISO RGD:731734 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma PMID:11836301|REF_RGD_ID:2313645 9037785 Cpb2 carboxypeptidase B2 gene DOID:9007730 Burns ISO RGD:71035 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:15497025|REF_RGD_ID:2313648 9037785 Cpb2 carboxypeptidase B2 gene DOID:9008366 Meningococcal Infections ISO RGD:731734 D RGD:9068941 20200609 RGD PMID:14717966|REF_RGD_ID:1598478 9037785 Cpb2 carboxypeptidase B2 gene DOID:9351 diabetes mellitus ISO RGD:731734 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:plasma PMID:14983223|REF_RGD_ID:2313643 9037785 Cpb2 carboxypeptidase B2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731734 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:plasma PMID:11836301|REF_RGD_ID:2313645 9037785 Cpb2 carboxypeptidase B2 gene DOID:9970 obesity ISO RGD:731734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959692 9037785 Cpb2 carboxypeptidase B2 gene DOID:9970 obesity ISO RGD:731734 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma PMID:11836301|REF_RGD_ID:2313645 9037806 Rragc Ras related GTP binding C gene DOID:0050873 follicular lymphoma ISO RGD:1323384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691987 9037806 Rragc Ras related GTP binding C gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1323384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9037806 Rragc Ras related GTP binding C gene DOID:630 genetic disease ISO RGD:1323384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037821 Ntsr2 neurotensin receptor 2 gene DOID:5419 schizophrenia ISO RGD:733351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9037821 Ntsr2 neurotensin receptor 2 gene DOID:630 genetic disease ISO RGD:733351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037830 Wnk3 WNK lysine deficient protein kinase 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346670 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9037830 Wnk3 WNK lysine deficient protein kinase 3 gene DOID:0060805 Prieto syndrome ISO RGD:1346670 D RGD:7240710 20231206 OMIM 9037830 Wnk3 WNK lysine deficient protein kinase 3 gene DOID:0060805 Prieto syndrome ISO RGD:1346670 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Prieto syndrome PMID:25741868|PMID:26350204|PMID:3121220|PMID:35678782 9037830 Wnk3 WNK lysine deficient protein kinase 3 gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1346670 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 9037830 Wnk3 WNK lysine deficient protein kinase 3 gene DOID:12849 autistic disorder ISO RGD:1346670 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:25741868|PMID:30208311 9037830 Wnk3 WNK lysine deficient protein kinase 3 gene DOID:630 genetic disease ISO RGD:1346670 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16275911|PMID:23427142|PMID:26350204|PMID:28492532|PMID:30740830|PMID:30763027|PMID:32754646|PMID:33500540|PMID:34858138|PMID:35678782 9037830 Wnk3 WNK lysine deficient protein kinase 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346670 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:26350204|PMID:3121220|PMID:35678782 9037872 LOC102023844 chromosome unknown open reading frame, human C6orf89 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1348833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9037872 LOC102023844 chromosome unknown open reading frame, human C6orf89 gene DOID:630 genetic disease ISO RGD:1348833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037925 Nap1l5 nucleosome assembly protein 1 like 5 gene DOID:630 genetic disease ISO RGD:1348887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037925 Nap1l5 nucleosome assembly protein 1 like 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1348887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 9037925 Nap1l5 nucleosome assembly protein 1 like 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9037931 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:0080422 Dravet syndrome ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 9037931 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:0111940 immunodeficiency 42 ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9037931 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9037931 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1314561 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9037931 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:11054 urinary bladder cancer ISO RGD:1314561 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 9037931 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:1540 parathyroid carcinoma ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9037931 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:5812 MHC class II deficiency ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9037931 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:630 genetic disease ISO RGD:1314561 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9037931 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:9000081 Lymphatic Metastasis ISO RGD:1314561 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 9037931 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:9002170 Experimental Neoplasms ISO RGD:1314561 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 9037931 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1314561 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34755307 9037931 Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314561 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9037958 Vars1 valyl-tRNA synthetase 1 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:735744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9037958 Vars1 valyl-tRNA synthetase 1 gene DOID:1059 intellectual disability ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:30275004 9037958 Vars1 valyl-tRNA synthetase 1 gene DOID:10907 microcephaly ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:30275004 9037958 Vars1 valyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:735744 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11114335|PMID:25741868 9037958 Vars1 valyl-tRNA synthetase 1 gene DOID:9003507 Premature Birth ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature birth PMID:25741868|PMID:30275004 9037958 Vars1 valyl-tRNA synthetase 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:735744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:25741868|PMID:30275004 9037958 Vars1 valyl-tRNA synthetase 1 gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:735744 D RGD:7240710 20190315 OMIM 9037958 Vars1 valyl-tRNA synthetase 1 gene DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY ISO RGD:735744 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy PMID:11114335|PMID:25741868|PMID:26539891|PMID:29221463|PMID:29691655|PMID:30275004|PMID:30755602|PMID:30755616|PMID:33001864|PMID:36672771 9037993 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050451 Brugada syndrome ISO RGD:68576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9037993 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:68576 D RGD:7240710 20180130 OMIM 9037993 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0050970 spinocerebellar ataxia type 19/22 ISO RGD:68576 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 22 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:11284128|PMID:17576681|PMID:17581856|PMID:21349352|PMID:21640846|PMID:21703448|PMID:22284586|PMID:22336521|PMID:22402074|PMID:22457051|PMID:22584458|PMID:22840528|PMID:23280837|PMID:23280838|PMID:23400760|PMID:23414114|PMID:23834499|PMID:23838598|PMID:24762397|PMID:25175087|PMID:25214526|PMID:25401298|PMID:25410959|PMID:25741868|PMID:25741869|PMID:26016905|PMID:26189493|PMID:26220970|PMID:26467025|PMID:26633542|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28362824|PMID:28444220|PMID:28492532|PMID:28895081|PMID:29053796|PMID:29062094|PMID:29482223|PMID:29527639|PMID:29953624|PMID:30662450|PMID:30776697|PMID:30847666|PMID:31017293|PMID:31130284|PMID:31195250|PMID:31293010|PMID:31695177|PMID:31737537|PMID:32709127|PMID:32818936|PMID:34085946|PMID:34087979|PMID:34361012|PMID:9536098 9037993 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0060224 atrial fibrillation ISO RGD:68576 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28416822|PMID:29892015|PMID:30061737 9037993 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110226 Brugada syndrome 9 ISO RGD:68576 D RGD:7240710 20180130 OMIM 9037993 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110226 Brugada syndrome 9 ISO RGD:68576 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9 PMID:21349352|PMID:21640846|PMID:21703448|PMID:22284586|PMID:22336521|PMID:22457051|PMID:22840528|PMID:23400760|PMID:23414114|PMID:24762397|PMID:25214526|PMID:25741868|PMID:26016905|PMID:26467025|PMID:28074886|PMID:28492532|PMID:29053796|PMID:30662450|PMID:30776697|PMID:31017293|PMID:31130284|PMID:31737537|PMID:32709127|PMID:32818936 9037993 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:68576 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 9037993 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:68576 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:26467025|PMID:28492532 9037993 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:1826 epilepsy ISO RGD:68576 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868 9037993 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:630 genetic disease ISO RGD:68576 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22402074|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28341588|PMID:28444220|PMID:28492532|PMID:30847666|PMID:31195250|PMID:31695177 9037993 Kcnd3 potassium voltage-gated channel subfamily D member 3 gene DOID:9003936 Cardiomegaly ISO RGD:68577 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:23747723|REF_RGD_ID:8847123 9038005 Pdzrn4 PDZ domain containing ring finger 4 gene DOID:10325 silicosis ISO RGD:1318876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24986923 9038005 Pdzrn4 PDZ domain containing ring finger 4 gene DOID:630 genetic disease ISO RGD:1318876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038035 CUNH1orf141 chromosome unknown C1orf141 homolog gene DOID:1059 intellectual disability ISO RGD:1606070 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe PMID:25741868 9038048 Mapk13 mitogen-activated protein kinase 13 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:737240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9038048 Mapk13 mitogen-activated protein kinase 13 gene DOID:13580 cholestasis ISO RGD:737240 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20626112 9038048 Mapk13 mitogen-activated protein kinase 13 gene DOID:630 genetic disease ISO RGD:737240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038066 Tpk1 thiamin pyrophosphokinase 1 gene DOID:0090130 cortical dysplasia-focal epilepsy syndrome ISO RGD:1348190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:27439707 9038066 Tpk1 thiamin pyrophosphokinase 1 gene DOID:630 genetic disease ISO RGD:1348190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22152682|PMID:25741868|PMID:26975778|PMID:28431625|PMID:28492532|PMID:28747443|PMID:28856750|PMID:30483896 9038066 Tpk1 thiamin pyrophosphokinase 1 gene DOID:9003549 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) ISO RGD:1348190 D RGD:7240710 20180130 OMIM 9038066 Tpk1 thiamin pyrophosphokinase 1 gene DOID:9003549 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) ISO RGD:1348190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY | ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) PMID:16199547|PMID:17576681|PMID:22152682|PMID:25458521|PMID:25640679|PMID:25741868|PMID:26975778|PMID:28431625|PMID:28492532|PMID:28747443|PMID:28856750|PMID:30483896|PMID:30789823|PMID:31288420|PMID:31404531|PMID:32679198|PMID:33086386|PMID:9536098 9038096 Fam13b family with sequence similarity 13 member B gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:1321412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 9038096 Fam13b family with sequence similarity 13 member B gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1321412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9038096 Fam13b family with sequence similarity 13 member B gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:1321412 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 9038096 Fam13b family with sequence similarity 13 member B gene DOID:630 genetic disease ISO RGD:1321412 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038096 Fam13b family with sequence similarity 13 member B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321412 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9038096 Fam13b family with sequence similarity 13 member B gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1321412 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9038141 Scd5 stearoyl-CoA desaturase 5 gene DOID:0060420 chromosome 4q21 deletion syndrome ISO RGD:1349660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome 9038141 Scd5 stearoyl-CoA desaturase 5 gene DOID:0112160 autosomal dominant nonsyndromic deafness 79 ISO RGD:1349660 D RGD:7240710 20201111 OMIM 9038141 Scd5 stearoyl-CoA desaturase 5 gene DOID:0112160 autosomal dominant nonsyndromic deafness 79 ISO RGD:1349660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 79 PMID:31972369 9038141 Scd5 stearoyl-CoA desaturase 5 gene DOID:10316 pneumoconiosis ISO RGD:1349660 D RGD:9068941 20230309 CTD CTD Direct Evidence: marker/mechanism PMID:35506645 9038141 Scd5 stearoyl-CoA desaturase 5 gene DOID:630 genetic disease ISO RGD:1349660 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038150 Opn4 opsin 4 gene DOID:630 genetic disease ISO RGD:1349299 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9038195 Nr1d1 nuclear receptor subfamily 1 group D member 1 gene DOID:0070128 congenital nongoitrous hypothyroidism 6 ISO RGD:731848 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 PMID:11075809|PMID:25741868|PMID:34008892 9038195 Nr1d1 nuclear receptor subfamily 1 group D member 1 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:731848 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 9038195 Nr1d1 nuclear receptor subfamily 1 group D member 1 gene DOID:0112313 brain small vessel disease ISO RGD:731848 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes:promoter, exon:rs939347, rs2071570, rs12941497 (human) PMID:23083441|REF_RGD_ID:10448981 9038195 Nr1d1 nuclear receptor subfamily 1 group D member 1 gene DOID:10762 portal hypertension treatment ISO RGD:628827 D RGD:9068941 20200609 RGD associated with Cholestasis PMID:24497272|REF_RGD_ID:10448995 9038195 Nr1d1 nuclear receptor subfamily 1 group D member 1 gene DOID:13580 cholestasis ISO RGD:736119 D RGD:9068941 20200609 RGD PMID:24497272|REF_RGD_ID:10448995 9038195 Nr1d1 nuclear receptor subfamily 1 group D member 1 gene DOID:14018 alcoholic liver cirrhosis ISO RGD:731848 D RGD:9068941 20200609 RGD PMID:24497272|REF_RGD_ID:10448995 9038195 Nr1d1 nuclear receptor subfamily 1 group D member 1 gene DOID:1459 hypothyroidism ISO RGD:628827 D RGD:9068941 20200609 RGD PMID:1315530|REF_RGD_ID:10448989 9038195 Nr1d1 nuclear receptor subfamily 1 group D member 1 gene DOID:630 genetic disease ISO RGD:731848 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038195 Nr1d1 nuclear receptor subfamily 1 group D member 1 gene DOID:7998 hyperthyroidism ISO RGD:628827 D RGD:9068941 20200609 RGD PMID:1315530|REF_RGD_ID:10448989 9038195 Nr1d1 nuclear receptor subfamily 1 group D member 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:736119 D RGD:9068941 20200609 RGD PMID:24497272|REF_RGD_ID:10448995 9038195 Nr1d1 nuclear receptor subfamily 1 group D member 1 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:628827 D RGD:9068941 20200609 RGD PMID:23637135|REF_RGD_ID:10448992 9038195 Nr1d1 nuclear receptor subfamily 1 group D member 1 gene DOID:9452 steatotic liver disease ISO RGD:731848 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27664470 9038210 Mrps25 mitochondrial ribosomal protein S25 gene DOID:0060417 3p deletion syndrome ISO RGD:1318737 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 9038210 Mrps25 mitochondrial ribosomal protein S25 gene DOID:0112111 combined oxidative phosphorylation deficiency 50 ISO RGD:1318737 D RGD:7240710 20200930 OMIM 9038210 Mrps25 mitochondrial ribosomal protein S25 gene DOID:0112111 combined oxidative phosphorylation deficiency 50 ISO RGD:1318737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 50 PMID:31039582 9038210 Mrps25 mitochondrial ribosomal protein S25 gene DOID:630 genetic disease ISO RGD:1318737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038218 Wnt1 Wnt family member 1 gene DOID:0110339 osteogenesis imperfecta type 3 ISO RGD:1344355 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type III PMID:25741868|PMID:28492532|PMID:30715774|PMID:32770541 9038218 Wnt1 Wnt family member 1 gene DOID:0110347 osteogenesis imperfecta type 15 ISO RGD:1344355 D RGD:7240710 20240320 OMIM 9038218 Wnt1 Wnt family member 1 gene DOID:0110347 osteogenesis imperfecta type 15 ISO RGD:1344355 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 | ClinVar Annotator: match by term: WNT1-related condition PMID:22653731|PMID:23434763|PMID:23499309|PMID:23499310|PMID:23656646|PMID:25741868|PMID:27450065|PMID:28492532|PMID:28528193|PMID:28725987|PMID:29481978|PMID:29499418|PMID:29620724|PMID:30715774|PMID:30896082|PMID:30913006|PMID:33093841|PMID:33195954|PMID:34335676|PMID:36056132 9038218 Wnt1 Wnt family member 1 gene DOID:10126 keratoconus ISO RGD:1344355 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Keratoconus PMID:23434763 9038218 Wnt1 Wnt family member 1 gene DOID:11476 osteoporosis ISO RGD:1344355 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Osteoporosis PMID:23499309|PMID:23656646|PMID:25741868 9038218 Wnt1 Wnt family member 1 gene DOID:12347 osteogenesis imperfecta ISO RGD:1344355 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:23434763|PMID:23499309|PMID:23499310|PMID:25741868|PMID:27450065|PMID:28492532|PMID:28725987|PMID:29499418|PMID:30404864|PMID:30715774|PMID:30896082|PMID:30913006|PMID:32161841|PMID:33093841|PMID:33195954|PMID:34335676|PMID:35276006|PMID:36056132|PMID:36396825 9038218 Wnt1 Wnt family member 1 gene DOID:1936 atherosclerosis ameliorates ISO RGD:11491 D RGD:9068941 20230330 RGD PMID:35854140|REF_RGD_ID:242905195 9038218 Wnt1 Wnt family member 1 gene DOID:630 genetic disease ISO RGD:1344355 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22653731|PMID:23499309|PMID:23499310|PMID:23656646|PMID:25741868|PMID:27450065|PMID:28492532|PMID:28528193|PMID:28725987|PMID:29620724|PMID:30404864|PMID:30715774|PMID:30913006|PMID:32161841|PMID:33093841|PMID:33195954|PMID:34335676|PMID:35252483|PMID:35276006|PMID:36056132|PMID:36396825 9038218 Wnt1 Wnt family member 1 gene DOID:65 connective tissue disease ISO RGD:1344355 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 9038218 Wnt1 Wnt family member 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:11491 D RGD:9068941 20200609 RGD mRNA:increased expression:tumors:insertion of MMTV into Wnt1 gene increases expression and decreases latency of tumorigenesis in WAP-TGFalpha mice PMID:10918574|REF_RGD_ID:2298804 9038218 Wnt1 Wnt family member 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:11491 D RGD:9068941 20200609 RGD in vitro transformation of transfected C57MG mammary epithelial cell line PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863 9038231 Efr3a EFR3 homolog A gene DOID:630 genetic disease ISO RGD:1604382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038269 Cimip2b ciliary microtubule inner protein 2B gene DOID:0050778 Meckel syndrome ISO RGD:2293907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 9038269 Cimip2b ciliary microtubule inner protein 2B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9038269 Cimip2b ciliary microtubule inner protein 2B gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:2293907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 9038269 Cimip2b ciliary microtubule inner protein 2B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:2293907 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9038269 Cimip2b ciliary microtubule inner protein 2B gene DOID:0080942 anauxetic dysplasia ISO RGD:2293907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 9038269 Cimip2b ciliary microtubule inner protein 2B gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:2293907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 9038269 Cimip2b ciliary microtubule inner protein 2B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9038269 Cimip2b ciliary microtubule inner protein 2B gene DOID:630 genetic disease ISO RGD:2293907 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038269 Cimip2b ciliary microtubule inner protein 2B gene DOID:9000702 Stuve-Wiedemann Syndrome 2 ISO RGD:2293907 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 PMID:25741868|PMID:28492532 9038269 Cimip2b ciliary microtubule inner protein 2B gene DOID:9562 primary ciliary dyskinesia ISO RGD:2293907 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9038269 Cimip2b ciliary microtubule inner protein 2B gene DOID:9870 galactosemia ISO RGD:2293907 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9038293 Snapc1 small nuclear RNA activating complex polypeptide 1 gene DOID:630 genetic disease ISO RGD:1312249 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038333 Ncor1 nuclear receptor co-repressor 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:3612 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary (rat) PMID:22349439|REF_RGD_ID:5688285 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:0060351 mitochondrial complex III deficiency nuclear type 2 ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:0080111 mitochondrial complex III deficiency nuclear type 1 ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:11054 urinary bladder cancer ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:12849 autistic disorder ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:12858 Huntington's disease ISO RGD:730890 D RGD:9068941 20200609 RGD protein:decreased expression:temporal cortex, neuron, nucleus (human) PMID:10441327|REF_RGD_ID:5688338 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:1459 hypothyroidism ISO RGD:3612 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:11850121|REF_RGD_ID:2306463 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:2030 anxiety disorder ISO RGD:3612 D RGD:9068941 20200609 RGD PMID:20051490|REF_RGD_ID:5688287 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:2671 transitional cell carcinoma ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:289 endometriosis ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:3068 glioblastoma ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17312396 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:630 genetic disease ISO RGD:730890 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:9002532 Neonatal Hyperbilirubinemia ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28167773 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:9004713 Acute-Phase Reaction ISO RGD:3612 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:20949361|REF_RGD_ID:10412679 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:9007188 Liver Neoplasms ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064257 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:730890 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19781322 9038333 Ncor1 nuclear receptor corepressor 1 gene DOID:9008952 Breast Cancer, Familial ISO RGD:730890 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 9038403 Mpp7 MAGUK p55 scaffold protein 7 gene DOID:303 substance-related disorder ISO RGD:1344792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9038403 Mpp7 MAGUK p55 scaffold protein 7 gene DOID:630 genetic disease ISO RGD:1344792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038430 Tktl2 transketolase like 2 gene DOID:630 genetic disease ISO RGD:1604771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038442 Tpcn1 two pore segment channel 1 gene DOID:14228 oligospermia ISO RGD:1344084 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24451262 9038442 Tpcn1 two pore segment channel 1 gene DOID:630 genetic disease ISO RGD:1344084 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038488 Bcl2l15 BCL2 like 15 gene DOID:0080690 RASopathy ISO RGD:1603456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9038488 Bcl2l15 BCL2 like 15 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1603456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 9038488 Bcl2l15 BCL2 like 15 gene DOID:630 genetic disease ISO RGD:1603456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038497 Aifm2 apoptosis inducing factor mitochondria associated 2 gene DOID:630 genetic disease ISO RGD:1312709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1603298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:16199547|PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:25741868|PMID:28492532 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1603298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:16199547|PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:25741868|PMID:28492532 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:0060268 pontocerebellar hypoplasia type 2B ISO RGD:1603298 D RGD:7240710 20180130 OMIM 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:0060268 pontocerebellar hypoplasia type 2B ISO RGD:1603298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2B PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:23562994|PMID:25741868|PMID:28492532|PMID:34964109 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:0080690 RASopathy ISO RGD:1603298 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:1059 intellectual disability ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:10907 microcephaly ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1603298 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hemolytic-uremic syndrome PMID:34964109 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:480 movement disease ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:630 genetic disease ISO RGD:1603298 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:9000123 Deglutition Disorders ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:9000343 Vision Disorders ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18711368 9038514 Tsen2 tRNA splicing endonuclease subunit 2 gene DOID:9004657 Weight Gain ISO RGD:1603298 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 9038540 Phax phosphorylated adaptor for RNA export gene DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy ISO RGD:1346002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy PMID:25741868 9038540 Phax phosphorylated adaptor for RNA export gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1346002 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9038540 Phax phosphorylated adaptor for RNA export gene DOID:0080768 pyridoxine-dependent epilepsy ISO RGD:1346002 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy 9038540 Phax phosphorylated adaptor for RNA export gene DOID:10487 Hirschsprung's disease ISO RGD:1346002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon 9038540 Phax phosphorylated adaptor for RNA export gene DOID:630 genetic disease ISO RGD:1346002 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038540 Phax phosphorylated adaptor for RNA export gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346002 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9038540 Phax phosphorylated adaptor for RNA export gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1346002 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9038569 Dbh dopamine beta-hydroxylase gene DOID:0050771 pheochromocytoma ISO RGD:736659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22569243 9038569 Dbh dopamine beta-hydroxylase gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 9038569 Dbh dopamine beta-hydroxylase gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9038569 Dbh dopamine beta-hydroxylase gene DOID:0080324 tuberous sclerosis 1 ISO RGD:736659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9038569 Dbh dopamine beta-hydroxylase gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 9038569 Dbh dopamine beta-hydroxylase gene DOID:0081097 Rafiq syndrome ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 9038569 Dbh dopamine beta-hydroxylase gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736659 D RGD:7240710 20180130 OMIM 9038569 Dbh dopamine beta-hydroxylase gene DOID:0090145 dopamine beta-hydroxylase deficiency ISO RGD:736659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orthostatic hypotension 1 PMID:11170900|PMID:11857564|PMID:14598346|PMID:15060114|PMID:17576681|PMID:20186791|PMID:21209083|PMID:21471955|PMID:22028891|PMID:23622564|PMID:24033266|PMID:25450229|PMID:25741868|PMID:26762739|PMID:27778639|PMID:28492532|PMID:7715704|PMID:9536098 9038569 Dbh dopamine beta-hydroxylase gene DOID:10003 sensorineural hearing loss ISO RGD:736659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25741868 9038569 Dbh dopamine beta-hydroxylase gene DOID:10024 migraine with aura ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:insertion, deletion:5' utr:g.-4767+?--4688-? (human) PMID:17095019|REF_RGD_ID:1625569 9038569 Dbh dopamine beta-hydroxylase gene DOID:1059 intellectual disability ISO RGD:10460 D RGD:9068941 20200609 RGD mRNA:decreased expression:cerebral cortex (mouse) PMID:18823370|REF_RGD_ID:2311578 9038569 Dbh dopamine beta-hydroxylase gene DOID:10762 portal hypertension ISO RGD:2489 D RGD:9068941 20200609 RGD protein:decreased expression:mesenteric artery (rat) PMID:19968782|REF_RGD_ID:5129480 9038569 Dbh dopamine beta-hydroxylase gene DOID:10763 hypertension ISO RGD:2489 D RGD:9068941 20200609 RGD mRNA:increased expression:heart, adrenal gland (rat) PMID:20596792|REF_RGD_ID:5129234 9038569 Dbh dopamine beta-hydroxylase gene DOID:10763 hypertension resistance ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-2073C>T rs1989787 (human) PMID:20814407|REF_RGD_ID:5129211 9038569 Dbh dopamine beta-hydroxylase gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:SNP:intron PMID:12707943|REF_RGD_ID:1358584 9038569 Dbh dopamine beta-hydroxylase gene DOID:14330 Parkinson's disease ISO RGD:736659 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex (human) PMID:19276553|REF_RGD_ID:5129515 9038569 Dbh dopamine beta-hydroxylase gene DOID:14330 Parkinson's disease susceptibility ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-1021C>T (human) PMID:14991826|REF_RGD_ID:1358583 9038569 Dbh dopamine beta-hydroxylase gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:736659 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 9038569 Dbh dopamine beta-hydroxylase gene DOID:1574 alcohol use disorder ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:g.444G>A (human) PMID:16252068|REF_RGD_ID:1625571 9038569 Dbh dopamine beta-hydroxylase gene DOID:1574 alcohol use disorder no_association ISO RGD:736659 D RGD:9068941 20200609 RGD DNA:polymorphism:5' utr:g.-1021C>T (human) PMID:16133787|REF_RGD_ID:1625572 9038569 Dbh dopamine beta-hydroxylase gene DOID:1596 depressive disorder ISO RGD:2489 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex (rat) PMID:19120095|REF_RGD_ID:5129527 9038569 Dbh dopamine beta-hydroxylase gene DOID:2316 brain ischemia ISO RGD:2489 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain (rat) PMID:18356740|REF_RGD_ID:5129691 9038569 Dbh dopamine beta-hydroxylase gene DOID:3652 Leigh disease ISO RGD:736659 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9038569 Dbh dopamine beta-hydroxylase gene DOID:630 genetic disease ISO RGD:736659 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9038569 Dbh dopamine beta-hydroxylase gene DOID:684 hepatocellular carcinoma ISO RGD:736659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9038569 Dbh dopamine beta-hydroxylase gene DOID:769 neuroblastoma ISO RGD:736659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25174395 9038569 Dbh dopamine beta-hydroxylase gene DOID:9001109 Anorexia ISO RGD:2489 D RGD:9068941 20200609 RGD PMID:20554938|REF_RGD_ID:5129235 9038569 Dbh dopamine beta-hydroxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2489 D RGD:9068941 20200609 RGD mRNA:decreased expression:superior mesenteric artery (rat) PMID:18457899|REF_RGD_ID:5129683 9038569 Dbh dopamine beta-hydroxylase gene DOID:9004890 Paranoid Disorders ISO RGD:736659 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10673769|PMID:12555232|PMID:17157269 9038569 Dbh dopamine beta-hydroxylase gene DOID:9005166 Contusions ISO RGD:2489 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:18987458|REF_RGD_ID:5129532 9038569 Dbh dopamine beta-hydroxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2489 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:adrenal gland (rat) PMID:16396986|REF_RGD_ID:5130724 9038569 Dbh dopamine beta-hydroxylase gene DOID:9006024 Hypotension ISO RGD:10460 D RGD:9068941 20200609 RGD PMID:12969876|REF_RGD_ID:5129693 9038598 Pabpc5 poly(A) binding protein cytoplasmic 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9038598 Pabpc5 poly(A) binding protein cytoplasmic 5 gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1348533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 9038598 Pabpc5 poly(A) binding protein cytoplasmic 5 gene DOID:12849 autistic disorder ISO RGD:1348533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9038598 Pabpc5 poly(A) binding protein cytoplasmic 5 gene DOID:630 genetic disease ISO RGD:1348533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038617 Ankrd53 ankyrin repeat domain 53 gene DOID:543 dystonia ISO RGD:1605329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9038617 Ankrd53 ankyrin repeat domain 53 gene DOID:630 genetic disease ISO RGD:1605329 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038617 Ankrd53 ankyrin repeat domain 53 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1605329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9038632 Abcb9 ATP binding cassette subfamily B member 9 gene DOID:630 genetic disease ISO RGD:733003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038660 H1-1 H1.1 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1313894 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038680 Acadm acyl-CoA dehydrogenase medium chain gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:735259 D RGD:7240710 20180130 OMIM 9038680 Acadm acyl-CoA dehydrogenase medium chain gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:735259 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Medium chain acyl-CoA dehydrogenase deficiency | ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:10767181|PMID:11263545|PMID:11346377|PMID:11349232|PMID:11409868|PMID:11486912|PMID:11673361|PMID:1356169|PMID:1361190|PMID:1447668|PMID:15171998|PMID:15171999|PMID:15479234|PMID:1570195|PMID:15832312|PMID:15915086|PMID:1594327|PMID:1601002|PMID:16121256|PMID:16128823|PMID:16199547|PMID:16291504|PMID:16617240|PMID:1671131|PMID:16737882|PMID:16763904|PMID:1678810|PMID:1679031|PMID:1684086|PMID:16972171|PMID:17273963|PMID:1729890|PMID:1756601|PMID:17576681|PMID:18075239|PMID:18188679|PMID:18241067|PMID:18450854|PMID:18478588|PMID:18767270|PMID:18836889|PMID:1902818|PMID:19064330|PMID:19156839|PMID:19224950|PMID:19649258|PMID:19699128|PMID:1972503|PMID:19780764|PMID:20036593|PMID:20301597|PMID:20434380|PMID:20437613|PMID:2046713|PMID:20567907|PMID:20580581|PMID:21083904|PMID:21228398|PMID:21239873|PMID:21483992|PMID:21704015|PMID:21929648|PMID:22166308|PMID:2251268|PMID:22542437|PMID:22630369|PMID:22683754|PMID:22796001|PMID:22848008|PMID:22975760|PMID:23028790|PMID:23095120|PMID:23151387|PMID:23430840|PMID:23509891|PMID:23546811|PMID:23574375|PMID:23700290|PMID:23757202|PMID:23798014|PMID:23810226|PMID:23829193|PMID:23842438|PMID:2393404|PMID:2394825|PMID:24033266|PMID:24294134|PMID:24623196|PMID:24718418|PMID:24966162|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25503862|PMID:25525159|PMID:25640679|PMID:25689098|PMID:25741868|PMID:25940036|PMID:26223887|PMID:26467025|PMID:26798524|PMID:26947917|PMID:26990548|PMID:27308838|PMID:27477829|PMID:27751224|PMID:27843123|PMID:27856190|PMID:27943070|PMID:27976856|PMID:28492532|PMID:28581210|PMID:29247206|PMID:29285339|PMID:29350094|PMID:29519241|PMID:30626930|PMID:30675864|PMID:30838026|PMID:31012112|PMID:31033143|PMID:31620161|PMID:31737040|PMID:31836396|PMID:32304307|PMID:32778825|PMID:32793418|PMID:32901917|PMID:33072938|PMID:33123633|PMID:33514801|PMID:33580884|PMID:33841490|PMID:34539730|PMID:34578803|PMID:34923709|PMID:35034956|PMID:35281663|PMID:35629059|PMID:36068006|PMID:36096209|PMID:36246604|PMID:3786030|PMID:6434827|PMID:7603790|PMID:7633427|PMID:7720752|PMID:7730333|PMID:7904584|PMID:7929823|PMID:8102510|PMID:8104486|PMID:8198141|PMID:8215568|PMID:8535441|PMID:8682492|PMID:9158144|PMID:9536098|PMID:9797589|PMID:9882619 9038680 Acadm acyl-CoA dehydrogenase medium chain gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:2012 D RGD:9068941 20200609 RGD PMID:23076603|REF_RGD_ID:10047124 9038680 Acadm acyl-CoA dehydrogenase medium chain gene DOID:630 genetic disease ISO RGD:735259 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11263545|PMID:11346377|PMID:11349232|PMID:11409868|PMID:11486912|PMID:1361190|PMID:1447668|PMID:15479234|PMID:1570195|PMID:15832312|PMID:1601002|PMID:16291504|PMID:16617240|PMID:1671131|PMID:16737882|PMID:16763904|PMID:1678810|PMID:1679031|PMID:1684086|PMID:1756601|PMID:18188679|PMID:18241067|PMID:1902818|PMID:19224950|PMID:1972503|PMID:19780764|PMID:20036593|PMID:20301597|PMID:20434380|PMID:2046713|PMID:21228398|PMID:22166308|PMID:2251268|PMID:22630369|PMID:22848008|PMID:23028790|PMID:23509891|PMID:23574375|PMID:2393404|PMID:2394825|PMID:24033266|PMID:24718418|PMID:24966162|PMID:25087612|PMID:25255367|PMID:25333063|PMID:25741868|PMID:25940036|PMID:26223887|PMID:26467025|PMID:26947917|PMID:27308838|PMID:27477829|PMID:27976856|PMID:28492532|PMID:29247206|PMID:30626930|PMID:31012112|PMID:32778825|PMID:33580884|PMID:33841490|PMID:35281663|PMID:36068006|PMID:36246604|PMID:3786030|PMID:6434827|PMID:7720752|PMID:7730333|PMID:7904584|PMID:8104486|PMID:9158144|PMID:9797589 9038680 Acadm acyl-CoA dehydrogenase medium chain gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 9038680 Acadm acyl-CoA dehydrogenase medium chain gene DOID:9003370 Dyslipidemias ISO RGD:735259 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dyslipidemia PMID:11263545|PMID:11346377|PMID:11349232|PMID:11486912|PMID:1361190|PMID:1447668|PMID:15171998|PMID:1570195|PMID:15832312|PMID:1601002|PMID:16121256|PMID:16291504|PMID:16617240|PMID:1671131|PMID:16737882|PMID:16763904|PMID:1678810|PMID:1679031|PMID:1684086|PMID:1756601|PMID:18241067|PMID:1902818|PMID:19224950|PMID:1972503|PMID:20036593|PMID:20301597|PMID:20434380|PMID:2046713|PMID:21228398|PMID:2251268|PMID:22630369|PMID:23028790|PMID:23509891|PMID:23574375|PMID:2393404|PMID:2394825|PMID:24033266|PMID:24718418|PMID:24966162|PMID:25087612|PMID:25333063|PMID:25741868|PMID:25940036|PMID:26223887|PMID:26467025|PMID:26947917|PMID:27976856|PMID:28492532|PMID:33580884|PMID:35281663|PMID:3786030|PMID:6434827|PMID:7720752|PMID:7730333|PMID:7904584|PMID:8104486|PMID:9158144|PMID:9797589 9038680 Acadm acyl-CoA dehydrogenase medium chain gene DOID:9004657 Weight Gain ISO RGD:735259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 9038680 Acadm acyl-CoA dehydrogenase medium chain gene DOID:9006616 Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies ISO RGD:735259 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2 PMID:11673361|PMID:18450854|PMID:19780764|PMID:20434380|PMID:23028790|PMID:24966162|PMID:25741868|PMID:27308838|PMID:28492532|PMID:36068006 9038680 Acadm acyl-CoA dehydrogenase medium chain gene DOID:9007874 Liver Failure ISO RGD:735259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9090694 9038680 Acadm acyl-CoA dehydrogenase medium chain gene DOID:9970 obesity ISO RGD:735259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 9038696 Tbc1d31 TBC1 domain family member 31 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1603593 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 9038696 Tbc1d31 TBC1 domain family member 31 gene DOID:630 genetic disease ISO RGD:1603593 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038696 Tbc1d31 TBC1 domain family member 31 gene DOID:9001611 Urogenital Abnormalities ISO RGD:1603593 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Inherited genitourinary tract anomalies PMID:37468454 9038745 Pnmt phenylethanolamine N-methyltransferase gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:732850 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 9038745 Pnmt phenylethanolamine N-methyltransferase gene DOID:10652 Alzheimer's disease onset ISO RGD:732850 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) PMID:11378842|REF_RGD_ID:5130171 9038745 Pnmt phenylethanolamine N-methyltransferase gene DOID:10763 hypertension ISO RGD:3361 D RGD:9068941 20200609 RGD protein:decreased activity:adrenal gland (rat) PMID:20378607|REF_RGD_ID:5130152 9038745 Pnmt phenylethanolamine N-methyltransferase gene DOID:10763 hypertension ISO RGD:732850 D RGD:9068941 20200609 RGD DNA:snp:5' utr:g.-390G>A (human) PMID:14553966|REF_RGD_ID:5130164 9038745 Pnmt phenylethanolamine N-methyltransferase gene DOID:10763 hypertension no_association ISO RGD:732850 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) PMID:17645789|REF_RGD_ID:5130172 9038745 Pnmt phenylethanolamine N-methyltransferase gene DOID:2377 multiple sclerosis ISO RGD:732850 D RGD:9068941 20200609 RGD DNA:snps:5' utr:g.-390G>A, g.-184G>A rs876493 (human) PMID:11958827|REF_RGD_ID:1358561 9038745 Pnmt phenylethanolamine N-methyltransferase gene DOID:630 genetic disease ISO RGD:732850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038745 Pnmt phenylethanolamine N-methyltransferase gene DOID:9004009 Reperfusion Injury ISO RGD:732850 D RGD:9068941 20200609 RGD protein:increased expression:medulla oblongata (human) PMID:21061149|REF_RGD_ID:5128821 9038745 Pnmt phenylethanolamine N-methyltransferase gene DOID:9005166 Contusions ISO RGD:3361 D RGD:9068941 20200609 RGD mRNA:increased expression:adrenal gland (rat) PMID:18987458|REF_RGD_ID:5129532 9038745 Pnmt phenylethanolamine N-methyltransferase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3361 D RGD:9068941 20200609 RGD protein:increased expression:adrenal gland (rat) PMID:16396986|REF_RGD_ID:5130724 9038745 Pnmt phenylethanolamine N-methyltransferase gene DOID:9993 hypoglycemia ISO RGD:3361 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:decreased expression:adrenal gland (rat) PMID:15494609|REF_RGD_ID:5130725 9038755 Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:0111672 primary hyperoxaluria type 3 ISO RGD:1321399 D RGD:7240710 20180130 OMIM 9038755 Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:0111672 primary hyperoxaluria type 3 ISO RGD:1321399 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:16199547|PMID:17576681|PMID:20797690|PMID:21896830|PMID:21998747|PMID:22391140|PMID:2277189|PMID:22771891|PMID:22781098|PMID:22851625|PMID:24033266|PMID:24563386|PMID:25629080|PMID:25644115|PMID:25741868|PMID:25972204|PMID:26340091|PMID:26342005|PMID:27096395|PMID:27561601|PMID:27742850|PMID:28492532|PMID:28711958|PMID:29705963|PMID:30488096|PMID:30609409|PMID:31078535|PMID:31123811|PMID:31401635|PMID:31589614|PMID:33274618|PMID:33350326|PMID:33495102|PMID:3386585|PMID:33865885|PMID:34245816|PMID:34674420|PMID:34805638|PMID:34995728|PMID:35612621|PMID:37139236|PMID:9536098 9038755 Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:13580 cholestasis ISO RGD:1321399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 9038755 Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:2977 primary hyperoxaluria ISO RGD:1321399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:28492532 9038755 Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 gene DOID:630 genetic disease ISO RGD:1321399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9038774 Mrpl17 mitochondrial ribosomal protein L17 gene DOID:630 genetic disease ISO RGD:1351017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038780 Rubcn rubicon autophagy regulator gene DOID:0080057 autosomal recessive spinocerebellar ataxia 15 ISO RGD:1353596 D RGD:7240710 20180130 OMIM 9038780 Rubcn rubicon autophagy regulator gene DOID:0080057 autosomal recessive spinocerebellar ataxia 15 ISO RGD:1353596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 PMID:20826435|PMID:23728897|PMID:25741868|PMID:28492532|PMID:30237576|PMID:32450808 9038780 Rubcn rubicon autophagy regulator gene DOID:630 genetic disease ISO RGD:1353596 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9038780 Rubcn rubicon autophagy regulator gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1353596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9038780 Rubcn rubicon autophagy regulator gene DOID:9008086 Developmental Disabilities ISO RGD:1353596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9038780 Rubcn rubicon autophagy regulator gene DOID:9074 systemic lupus erythematosus ISO RGD:1313444 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 9038808 Ccdc59 coiled-coil domain containing 59 gene DOID:630 genetic disease ISO RGD:1606017 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038816 Dnase2b deoxyribonuclease 2 beta gene DOID:630 genetic disease ISO RGD:1607010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038816 Dnase2b deoxyribonuclease 2 beta gene DOID:83 cataract ISO RGD:1332002 D RGD:9068941 20220825 MouseDO OMIM:601371 9038826 Ticam1 toll like receptor adaptor molecule 1 gene DOID:0081013 severe COVID-19 ISO RGD:1603893 D RGD:8554872 20230516 ClinVar ClinVar Annotator: match by term: Susceptibility to severe COVID-19 PMID:28492532 9038826 Ticam1 toll like receptor adaptor molecule 1 gene DOID:10316 pneumoconiosis ISO RGD:1603893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25445010 9038826 Ticam1 toll like receptor adaptor molecule 1 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1603893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24478430 9038826 Ticam1 toll like receptor adaptor molecule 1 gene DOID:630 genetic disease ISO RGD:1603893 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9038826 Ticam1 toll like receptor adaptor molecule 1 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1603893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9038826 Ticam1 toll like receptor adaptor molecule 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1603893 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25780291 9038826 Ticam1 toll like receptor adaptor molecule 1 gene DOID:9008401 Herpes Simplex Encephalitis 4 ISO RGD:1603893 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4 PMID:22105173|PMID:24033266|PMID:25741868|PMID:26513235|PMID:28492532 9038826 Ticam1 toll like receptor adaptor molecule 1 gene DOID:9008401 Herpes Simplex Encephalitis 4 susceptibility ISO RGD:1603893 D RGD:7240710 20190502 OMIM 9038855 Nostrin nitric oxide synthase trafficking gene DOID:630 genetic disease ISO RGD:1348478 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038855 Nostrin nitric oxide synthase trafficking gene DOID:9007096 Stroke ISO RGD:727920 D RGD:9068941 20200609 RGD PMID:11489260|REF_RGD_ID:631971 9038899 Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma gene DOID:607 paraplegia ISO RGD:733243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 9038899 Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma gene DOID:630 genetic disease ISO RGD:733243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038899 Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma gene DOID:6846 familial melanoma ISO RGD:733243 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 9038918 Hepacam2 HEPACAM family member 2 gene DOID:10283 prostate cancer ISO RGD:1602173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9038918 Hepacam2 HEPACAM family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9038918 Hepacam2 HEPACAM family member 2 gene DOID:630 genetic disease ISO RGD:1602173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038941 Gcnt7 glucosaminyl (N-acetyl) transferase family member 7 gene DOID:630 genetic disease ISO RGD:1354424 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:731628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050476 Barth syndrome ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050891 adrenal cortical adenoma ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma PMID:23416519 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0050952 spastic ataxia ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:731628 D RGD:7240710 20180130 OMIM 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:731628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia PMID:10797423|PMID:22912398|PMID:25326635|PMID:25741868|PMID:26633542|PMID:27435318|PMID:27632770|PMID:27653636|PMID:28492532 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0111861 Meester-Loeys syndrome ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meester-Loeys syndrome PMID:27632686 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:0112003 immunodeficiency 33 ISO RGD:731628 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:10588 adrenoleukodystrophy ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:10591 pre-eclampsia ISO RGD:731628 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:10763 hypertension ISO RGD:731628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:11714 gestational diabetes ISO RGD:731628 D RGD:9068941 20231130 RGD mRNA:decreased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:12849 autistic disorder ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:13628 favism ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:14004 thoracic aortic aneurysm ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:27632686 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:2729 dyskeratosis congenita ISO RGD:731628 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:446 primary hyperaldosteronism ISO RGD:731628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:607 paraplegia ISO RGD:731628 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:630 genetic disease ISO RGD:731628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10797423|PMID:22912398|PMID:25741868|PMID:27632770|PMID:27653636|PMID:28492532 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:657 adenoma ISO RGD:731628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23416519 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9000495 Tremor ISO RGD:621304 D RGD:9068941 20200609 RGD PMID:27013529|REF_RGD_ID:13825260 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9002720 Splenomegaly ISO RGD:731628 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731628 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9005603 Muscle Hypotonia ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:25741868 9038957 Atp2b3 ATPase plasma membrane Ca2+ transporting 3 gene DOID:9008086 Developmental Disabilities ISO RGD:731628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9038990 Cimip2a ciliary microtubule inner protein 2A gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758 9038990 Cimip2a ciliary microtubule inner protein 2A gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1603805 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532 9038990 Cimip2a ciliary microtubule inner protein 2A gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9038990 Cimip2a ciliary microtubule inner protein 2A gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1603805 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 9038990 Cimip2a ciliary microtubule inner protein 2A gene DOID:0081097 Rafiq syndrome ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 9038990 Cimip2a ciliary microtubule inner protein 2A gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603805 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9038990 Cimip2a ciliary microtubule inner protein 2A gene DOID:1826 epilepsy ISO RGD:1603805 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9038990 Cimip2a ciliary microtubule inner protein 2A gene DOID:630 genetic disease ISO RGD:1603805 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9038990 Cimip2a ciliary microtubule inner protein 2A gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1603805 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9039022 Tcta T cell leukemia translocation altered gene DOID:0060852 Pierson syndrome ISO RGD:1342729 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 9039022 Tcta T cell leukemia translocation altered gene DOID:630 genetic disease ISO RGD:1342729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039022 Tcta T cell leukemia translocation altered gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 9039022 Tcta T cell leukemia translocation altered gene DOID:9268 glycine encephalopathy ISO RGD:1342729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:28492532 9039047 Tmem192 transmembrane protein 192 gene DOID:630 genetic disease ISO RGD:1602829 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039068 Sppl2b signal peptide peptidase like 2B gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1601988 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 9039068 Sppl2b signal peptide peptidase like 2B gene DOID:630 genetic disease ISO RGD:1601988 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039068 Sppl2b signal peptide peptidase like 2B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1601988 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9039089 Srrm3 serine/arginine repetitive matrix 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1601811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9039089 Srrm3 serine/arginine repetitive matrix 3 gene DOID:630 genetic disease ISO RGD:1601811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039089 Srrm3 serine/arginine repetitive matrix 3 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1601811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 9039109 LOC102014685 chromosome unknown open reading frame, human C19orf38 gene DOID:0050990 episodic ataxia type 2 ISO RGD:2302125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 9039109 LOC102014685 chromosome unknown open reading frame, human C19orf38 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:2302125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9039109 LOC102014685 chromosome unknown open reading frame, human C19orf38 gene DOID:0111254 glutaric acidemia I ISO RGD:2302125 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 9039109 LOC102014685 chromosome unknown open reading frame, human C19orf38 gene DOID:13810 familial hypercholesterolemia ISO RGD:2302125 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:28492532 9039109 LOC102014685 chromosome unknown open reading frame, human C19orf38 gene DOID:3413 alpha-mannosidosis ISO RGD:2302125 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9039127 Tmem163 transmembrane protein 163 gene DOID:0070401 hypomyelinating leukodystrophy 25 ISO RGD:1604280 D RGD:7240710 20230505 OMIM 9039127 Tmem163 transmembrane protein 163 gene DOID:0070401 hypomyelinating leukodystrophy 25 ISO RGD:1604280 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 25 PMID:25741868|PMID:35455965|PMID:35953447 9039127 Tmem163 transmembrane protein 163 gene DOID:576 proteinuria ISO RGD:1306212 D RGD:9068941 20200609 RGD PMID:21257920|REF_RGD_ID:12798539 9039127 Tmem163 transmembrane protein 163 gene DOID:630 genetic disease ISO RGD:1604280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039140 Scrn1 secernin 1 gene DOID:10283 prostate cancer ISO RGD:1348666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9039140 Scrn1 secernin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1348666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9039140 Scrn1 secernin 1 gene DOID:630 genetic disease ISO RGD:1348666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039140 Scrn1 secernin 1 gene DOID:8398 osteoarthritis ISO RGD:1348666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 9039140 Scrn1 secernin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1348666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9039182 Kera keratocan gene DOID:0060287 cornea plana ISO RGD:1314079 D RGD:9068941 20220825 MouseDO OMIM:121400 | OMIM:217300 9039182 Kera keratocan gene DOID:10126 keratoconus ISO RGD:1314078 D RGD:9068941 20200609 RGD RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas PMID:11683372|REF_RGD_ID:1600400 9039182 Kera keratocan gene DOID:11342 arcus senilis ISO RGD:1314078 D RGD:9068941 20200609 RGD autosomal recessive cornea plana, OMIM:217300 DNA:point_mutation:CDS:amino acid N247S PMID:10802664|REF_RGD_ID:1600335 9039182 Kera keratocan gene DOID:2566 corneal dystrophy ISO RGD:1314078 D RGD:9068941 20200609 RGD autosomal recessive cornea plana, OMIM:217300 DNA:point_mutation:CDS:amino acid N247S PMID:10802664|REF_RGD_ID:1600335 9039182 Kera keratocan gene DOID:630 genetic disease ISO RGD:1314078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9039182 Kera keratocan gene DOID:9002263 Cornea Plana 2 ISO RGD:1314078 D RGD:7240710 20180130 OMIM 9039182 Kera keratocan gene DOID:9002263 Cornea Plana 2 ISO RGD:1314078 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cornea plana 2 PMID:10802664|PMID:11726611|PMID:11754099|PMID:15370545|PMID:16157807|PMID:16234475|PMID:17011957|PMID:23834557|PMID:25741868|PMID:28492532|PMID:28799822|PMID:31059048 9039213 Dqx1 DEAQ-box RNA dependent ATPase 1 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1312375 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 9039213 Dqx1 DEAQ-box RNA dependent ATPase 1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1312375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 9039213 Dqx1 DEAQ-box RNA dependent ATPase 1 gene DOID:543 dystonia ISO RGD:1312375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9039213 Dqx1 DEAQ-box RNA dependent ATPase 1 gene DOID:630 genetic disease ISO RGD:1312375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039213 Dqx1 DEAQ-box RNA dependent ATPase 1 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1312375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9039238 Klk12 kallikrein related peptidase 12 gene DOID:630 genetic disease ISO RGD:1319061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039248 Rpusd2 RNA pseudouridine synthase domain containing 2 gene DOID:2717 Bloom syndrome ISO RGD:1343031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9039248 Rpusd2 RNA pseudouridine synthase domain containing 2 gene DOID:630 genetic disease ISO RGD:1343031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039248 Rpusd2 RNA pseudouridine synthase domain containing 2 gene DOID:9256 colorectal cancer ISO RGD:1343031 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9039255 Arid2 AT-rich interaction domain 2 gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1322383 D RGD:9068941 20210903 RGD PMID:31918270|REF_RGD_ID:150340710 9039255 Arid2 AT-rich interaction domain 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1322383 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9039255 Arid2 AT-rich interaction domain 2 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 9039255 Arid2 AT-rich interaction domain 2 gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1322383 D RGD:7240710 20190315 OMIM 9039255 Arid2 AT-rich interaction domain 2 gene DOID:0080297 Coffin-Siris syndrome 6 ISO RGD:1322383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 6 PMID:24728327|PMID:25741868|PMID:26238514|PMID:28124119|PMID:28492532|PMID:28884947|PMID:30838730 9039255 Arid2 AT-rich interaction domain 2 gene DOID:0111152 multicentric Castleman disease ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: TAFRO syndrome 9039255 Arid2 AT-rich interaction domain 2 gene DOID:10534 stomach cancer onset ISO RGD:1322383 D RGD:9068941 20210430 RGD protein:decreased expression:stomach (human) PMID:26637902|REF_RGD_ID:126848744 9039255 Arid2 AT-rich interaction domain 2 gene DOID:1059 intellectual disability ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9039255 Arid2 AT-rich interaction domain 2 gene DOID:10907 microcephaly ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24728327|PMID:25741868|PMID:28492532 9039255 Arid2 AT-rich interaction domain 2 gene DOID:3873 desmoplastic/nodular medulloblastoma ISO RGD:1322383 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma PMID:26580448 9039255 Arid2 AT-rich interaction domain 2 gene DOID:630 genetic disease ISO RGD:1322383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24728327|PMID:25741868|PMID:28492532 9039255 Arid2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322383 D RGD:9068941 20231109 CTD CTD Direct Evidence: marker/mechanism PMID:21822264|PMID:22634756 9039255 Arid2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1322383 D RGD:9068941 20231109 RGD associated with hepatitis B;protein:decreased expression:liver PMID:28498550|REF_RGD_ID:150340712 9039255 Arid2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1322383 D RGD:9068941 20210910 RGD PMID:25701229|PMID:32071245|REF_RGD_ID:150340708|REF_RGD_ID:150429631 9039255 Arid2 AT-rich interaction domain 2 gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1322383 D RGD:9068941 20210903 RGD PMID:27351279|REF_RGD_ID:150340711 9039255 Arid2 AT-rich interaction domain 2 gene DOID:9000351 Diarrhea 9 ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic diarrhea PMID:25741868 9039255 Arid2 AT-rich interaction domain 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9039255 Arid2 AT-rich interaction domain 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9039255 Arid2 AT-rich interaction domain 2 gene DOID:9008582 Developmental Disease ISO RGD:1322383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9039255 Arid2 AT-rich interaction domain 2 gene DOID:9009121 lung metastasis exacerbates ISO RGD:1322383 D RGD:9068941 20210903 RGD associated with hepatocellular carcinoma, PMID:32071245|REF_RGD_ID:150340708 9039255 Arid2 AT-rich interaction domain 2 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1322383 D RGD:9068941 20210910 RGD PMID:33262464|REF_RGD_ID:150429650 9039280 Klk9 kallikrein related peptidase 9 gene DOID:630 genetic disease ISO RGD:1317964 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039289 Akip1 A-kinase interacting protein 1 gene DOID:0080600 COVID-19 ISO RGD:1315871 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9039289 Akip1 A-kinase interacting protein 1 gene DOID:9775 diastolic heart failure ISO RGD:1315871 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 9039319 Micos13 mitochondrial contact site and cristae organizing system subunit 13 gene DOID:0111499 combined oxidative phosphorylation deficiency 37 ISO RGD:1601829 D RGD:7240710 20190315 OMIM 9039319 Micos13 mitochondrial contact site and cristae organizing system subunit 13 gene DOID:0111499 combined oxidative phosphorylation deficiency 37 ISO RGD:1601829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 37 | ClinVar Annotator: match by term: Mitochondrial hepato-encephalopathy PMID:27485409|PMID:27623147|PMID:29618761 9039327 Psmb5 proteasome 20S subunit beta 5 gene DOID:0060439 lysinuric protein intolerance ISO RGD:735704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 9039327 Psmb5 proteasome 20S subunit beta 5 gene DOID:630 genetic disease ISO RGD:735704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039327 Psmb5 proteasome 20S subunit beta 5 gene DOID:9000265 Specific Granule Deficiency ISO RGD:735704 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 9039327 Psmb5 proteasome 20S subunit beta 5 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:735704 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9039327 Psmb5 proteasome 20S subunit beta 5 gene DOID:9007102 Myocardial Ischemia ISO RGD:735704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9039333 Cnn1 calponin 1 gene DOID:0050990 episodic ataxia type 2 ISO RGD:731921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 9039333 Cnn1 calponin 1 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:731921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9039333 Cnn1 calponin 1 gene DOID:0111254 glutaric acidemia I ISO RGD:731921 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 9039333 Cnn1 calponin 1 gene DOID:3413 alpha-mannosidosis ISO RGD:731921 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9039333 Cnn1 calponin 1 gene DOID:630 genetic disease ISO RGD:731921 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039345 Ankrd33 ankyrin repeat domain 33 gene DOID:630 genetic disease ISO RGD:1344617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039345 Ankrd33 ankyrin repeat domain 33 gene DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia ISO RGD:1344617 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868 9039356 Fbxo7 F-box protein 7 gene DOID:0060372 Parkinson's disease 15 ISO RGD:1313800 D RGD:7240710 20180130 OMIM 9039356 Fbxo7 F-box protein 7 gene DOID:0060372 Parkinson's disease 15 ISO RGD:1313800 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome PMID:16199547|PMID:17576681|PMID:18513678|PMID:19038853|PMID:20603184|PMID:21347293|PMID:23352116|PMID:23933751|PMID:24112787|PMID:25029497|PMID:25085748|PMID:25169713|PMID:25174650|PMID:25741868|PMID:26310625|PMID:26882974|PMID:27294386|PMID:27503909|PMID:28492532|PMID:29174172|PMID:30502028|PMID:31965297|PMID:9536098 9039356 Fbxo7 F-box protein 7 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1313800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 9039356 Fbxo7 F-box protein 7 gene DOID:14330 Parkinson's disease ISO RGD:1313800 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkinson Disease, Recessive 9039356 Fbxo7 F-box protein 7 gene DOID:630 genetic disease ISO RGD:1313800 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9039356 Fbxo7 F-box protein 7 gene DOID:9001750 Glucose-Galactose Malabsorption ISO RGD:1313800 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption PMID:28492532 9039379 Mtg2 mitochondrial ribosome associated GTPase 2 gene DOID:630 genetic disease ISO RGD:1344224 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039399 Ap3m1 adaptor related protein complex 3 subunit mu 1 gene DOID:0110446 dilated cardiomyopathy 1W ISO RGD:734238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:11815424|PMID:16236538|PMID:21681106 9039399 Ap3m1 adaptor related protein complex 3 subunit mu 1 gene DOID:630 genetic disease ISO RGD:734238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039399 Ap3m1 adaptor related protein complex 3 subunit mu 1 gene DOID:9005520 Genitopatellar Syndrome ISO RGD:734238 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Genitopatellar syndrome PMID:28492532 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050557 congenital muscular dystrophy ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 ISO RGD:1318928 D RGD:9068941 20220825 MouseDO OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1318927 D RGD:7240710 20180130 OMIM 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:1318927 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:12966029|PMID:15661757|PMID:16199547|PMID:17576681|PMID:17878207|PMID:18414213|PMID:19067344|PMID:21727005|PMID:24709677|PMID:25741868|PMID:26467025|PMID:27159402|PMID:28454995|PMID:28492532|PMID:28556411|PMID:34426522|PMID:9536098 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 ISO RGD:1318927 D RGD:7240710 20180130 OMIM 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 PMID:17436019|PMID:17878207|PMID:18414213|PMID:19067344|PMID:19299310|PMID:25741868|PMID:26467025|PMID:28492532 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:1318928 D RGD:9068941 20220825 MouseDO OMIM:158900 | OMIM:158901 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:630 genetic disease ISO RGD:1318927 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:34426522 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:670 amphetamine abuse ISO RGD:1318927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18316681 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9004657 Weight Gain ISO RGD:1318927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9007188 Liver Neoplasms ISO RGD:1318927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 9039418 Large1 LARGE xylosyl- and glucuronyltransferase 1 gene DOID:9884 muscular dystrophy ISO RGD:1318927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:17878207|PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 9039430 Amigo1 adhesion molecule with Ig like domain 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1606525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 9039430 Amigo1 adhesion molecule with Ig like domain 1 gene DOID:12849 autistic disorder ISO RGD:1606525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9039430 Amigo1 adhesion molecule with Ig like domain 1 gene DOID:5419 schizophrenia ISO RGD:1552604 D RGD:9068941 20200609 RGD PMID:26240432|REF_RGD_ID:11536055 9039430 Amigo1 adhesion molecule with Ig like domain 1 gene DOID:630 genetic disease ISO RGD:1606525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039484 Pag1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 gene DOID:5419 schizophrenia ISO RGD:1603638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 9039484 Pag1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 gene DOID:630 genetic disease ISO RGD:1603638 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039484 Pag1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1603638 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23334668 9039500 Ppp1r16b protein phosphatase 1 regulatory subunit 16B gene DOID:2234 focal epilepsy ISO RGD:1322272 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9039500 Ppp1r16b protein phosphatase 1 regulatory subunit 16B gene DOID:630 genetic disease ISO RGD:1322272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039520 Tns3 tensin 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9039520 Tns3 tensin 3 gene DOID:630 genetic disease ISO RGD:1323398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039575 Fzd7 frizzled class receptor 7 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 9039575 Fzd7 frizzled class receptor 7 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 9039575 Fzd7 frizzled class receptor 7 gene DOID:14557 primary pulmonary hypertension ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:16429395|PMID:16429403|PMID:27453251|PMID:28492532|PMID:29743074 9039575 Fzd7 frizzled class receptor 7 gene DOID:2154 nephroblastoma ISO RGD:1314691 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:12057921|REF_RGD_ID:2316755 9039575 Fzd7 frizzled class receptor 7 gene DOID:630 genetic disease ISO RGD:1314691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039575 Fzd7 frizzled class receptor 7 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1314691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 9039575 Fzd7 frizzled class receptor 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9039575 Fzd7 frizzled class receptor 7 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1314691 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 9039575 Fzd7 frizzled class receptor 7 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1314691 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 9039618 Tdp1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0050950 autosomal recessive cerebellar ataxia ISO RGD:1320052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia 9039618 Tdp1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1320052 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 9039618 Tdp1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 ISO RGD:1320052 D RGD:7240710 20180130 OMIM 9039618 Tdp1 tyrosyl-DNA phosphodiesterase 1 gene DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 ISO RGD:1320052 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 PMID:12244316|PMID:12470949|PMID:15111055|PMID:15920477|PMID:17948061|PMID:24355542|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532|PMID:29641532|PMID:31130284|PMID:31182267|PMID:32371905 9039618 Tdp1 tyrosyl-DNA phosphodiesterase 1 gene DOID:2661 myoepithelioma ISO RGD:1320052 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9039618 Tdp1 tyrosyl-DNA phosphodiesterase 1 gene DOID:630 genetic disease ISO RGD:1320052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:0060041 autism spectrum disorder ISO RGD:69201 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:736283 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:29710028|REF_RGD_ID:25671411 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:0080745 polymyositis ISO RGD:69201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20427501 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:0080883 vitamin D-dependent rickets ISO RGD:69201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vitamin D-dependent rickets 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:69201 D RGD:7240710 20180130 OMIM 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:0080886 vitamin D-dependent rickets type 1A ISO RGD:69201 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A PMID:10518789|PMID:10566658|PMID:11737215|PMID:12050193|PMID:17488797|PMID:18394115|PMID:20926527|PMID:21107545|PMID:21700898|PMID:22190362|PMID:22443290|PMID:22588163|PMID:23423976|PMID:23444327|PMID:23483640|PMID:24197768|PMID:25284246|PMID:25741868|PMID:27287609|PMID:28492532|PMID:30282619|PMID:31261480|PMID:32932410|PMID:35279323|PMID:35738466|PMID:36321535|PMID:36561972|PMID:9415400|PMID:9486994|PMID:9837822 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:0080886 vitamin D-dependent rickets type 1A treatment ISO XCO:0000545 D RGD:9068941 20210326 RGD PMID:32231239|REF_RGD_ID:32716373 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:0090109 autosomal dominant hypocalcemia ISO RGD:736283 D RGD:9068941 20200609 RGD PMID:11416220|REF_RGD_ID:734871 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:10591 pre-eclampsia ISO RGD:69201 D RGD:9068941 20231130 RGD associated with hypoxia; protein:increased expression:placenta (human) PMID:22871339|REF_RGD_ID:401901075 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:10591 pre-eclampsia ISO RGD:69201 D RGD:9068941 20231130 RGD mRNA:increased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:10609 rickets ISO RGD:69201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16494812 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:10609 rickets ISO RGD:69201 D RGD:9068941 20200609 RGD vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S PMID:9486994|REF_RGD_ID:1600874 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:10609 rickets ISO RGD:736283 D RGD:9068941 20200609 RGD PMID:11416220|REF_RGD_ID:734871 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:10609 rickets ISO RGD:736283 D RGD:9068941 20220825 MouseDO OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:11714 gestational diabetes ISO RGD:69201 D RGD:9068941 20231130 RGD mRNA:increased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:12678 hypercalcemia ISO RGD:69201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20427501 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:13543 hyperparathyroidism ISO RGD:736283 D RGD:9068941 20200609 RGD PMID:11416220|REF_RGD_ID:734871 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:2043 hepatitis B severity ISO RGD:69201 D RGD:9068941 20200609 RGD DNA:SNP:promoter: -1260C>A (rs10877012) (human) PMID:22963605|REF_RGD_ID:25671410 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:2527 nephrosis ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:1328752|REF_RGD_ID:2307321 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:3021 acute kidney failure ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:6223803|REF_RGD_ID:2307326 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:630 genetic disease ISO RGD:69201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20926527|PMID:25363760|PMID:25741868|PMID:28492532|PMID:9536098 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:6846 familial melanoma ISO RGD:69201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:893 Wilson disease ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:3348368|REF_RGD_ID:2307322 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:9002802 Acidoses ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:6282936|REF_RGD_ID:2307324 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:69201 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter: 1260C>A (rs10877012) (human) PMID:21145801|REF_RGD_ID:25671413 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69192 D RGD:9068941 20200609 RGD PMID:3295473|REF_RGD_ID:2307313 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:9006359 Vitamin D Deficiency susceptibility ISO RGD:69201 D RGD:9068941 20200609 RGD associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A PMID:18476984|REF_RGD_ID:2307310 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:9006956 nephrotoxicity treatment ISO RGD:69192 D RGD:9068941 20230622 RGD PMID:37244046|REF_RGD_ID:329853759 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:736283 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:kidney (mouse) PMID:26476181|REF_RGD_ID:25671412 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:9452 steatotic liver disease ISO RGD:736283 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (mouse) PMID:31175967|REF_RGD_ID:25671414 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69201 D RGD:9068941 20200609 RGD DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human) PMID:17223345|REF_RGD_ID:2307312 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:69201 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) PMID:17606874|REF_RGD_ID:2307311 9039655 LOC102011841 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial gene DOID:9970 obesity susceptibility ISO RGD:69201 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human) PMID:17223345|REF_RGD_ID:2307312 9039668 Dhx30 DExH-box helicase 30 gene DOID:0060041 autism spectrum disorder ISO RGD:1318916 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Autism, susceptiblity to PMID:25741868 9039668 Dhx30 DExH-box helicase 30 gene DOID:12849 autistic disorder ISO RGD:1318916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:28327206|PMID:29100085|PMID:32581362 9039668 Dhx30 DExH-box helicase 30 gene DOID:1826 epilepsy ISO RGD:1318916 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:29100085 9039668 Dhx30 DExH-box helicase 30 gene DOID:630 genetic disease ISO RGD:1318916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:29100085 9039668 Dhx30 DExH-box helicase 30 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9039668 Dhx30 DExH-box helicase 30 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1318916 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 9039668 Dhx30 DExH-box helicase 30 gene DOID:9008086 Developmental Disabilities ISO RGD:1318916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28327206|PMID:29100085|PMID:32581362 9039668 Dhx30 DExH-box helicase 30 gene DOID:9009099 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE ISO RGD:1318916 D RGD:7240710 20190315 OMIM 9039668 Dhx30 DExH-box helicase 30 gene DOID:9009099 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE ISO RGD:1318916 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment and absent language PMID:25741868|PMID:28327206|PMID:28492532|PMID:29100085|PMID:32581362|PMID:34020708 9039698 Gp2 glycoprotein 2 gene DOID:630 genetic disease ISO RGD:737446 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039698 Gp2 glycoprotein 2 gene DOID:9007633 Body Weight ISO RGD:737446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22344219 9039698 Gp2 glycoprotein 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737446 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 9039717 Ccdc181 coiled-coil domain containing 181 gene DOID:1540 parathyroid carcinoma ISO RGD:1602471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9039717 Ccdc181 coiled-coil domain containing 181 gene DOID:630 genetic disease ISO RGD:1602471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039717 Ccdc181 coiled-coil domain containing 181 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1602471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 9039717 Ccdc181 coiled-coil domain containing 181 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9039742 Pm20d1 peptidase M20 domain containing 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1602433 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9039742 Pm20d1 peptidase M20 domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1602433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9039742 Pm20d1 peptidase M20 domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1602433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9039742 Pm20d1 peptidase M20 domain containing 1 gene DOID:630 genetic disease ISO RGD:1602433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039742 Pm20d1 peptidase M20 domain containing 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1602433 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9039742 Pm20d1 peptidase M20 domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1602433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0050700 cardiomyopathy ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12967636 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:733895 D RGD:7240710 20180130 OMIM 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0060789 hypomyelinating leukodystrophy 4 ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 4 PMID:18571143|PMID:24033266|PMID:25741868|PMID:27405012|PMID:28492532 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0110763 hereditary spastic paraplegia 10 ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0110766 hereditary spastic paraplegia 13 ISO RGD:733895 D RGD:7240710 20180130 OMIM 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:0110766 hereditary spastic paraplegia 13 ISO RGD:733895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 PMID:10677329|PMID:12483302|PMID:17420924|PMID:18414213|PMID:21520333|PMID:22552817|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10603 glucose intolerance disease_progression ISO RGD:733895 D RGD:9068941 20200609 RGD associated with Cystic Fibrosis; PMID:11591125|REF_RGD_ID:12910474 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:621314 D RGD:9068941 20200609 RGD protein:increased modification:brain PMID:15802185|REF_RGD_ID:1624243 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:mitochondrion: PMID:22753410|REF_RGD_ID:10402831 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10652 Alzheimer's disease ISO RGD:733896 D RGD:9068941 20200609 RGD protein:increased expression:cytosol, mitochondrion: PMID:22753410|REF_RGD_ID:10402831 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10763 hypertension ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:18948349|REF_RGD_ID:10402862 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10763 hypertension ISO RGD:621314 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, blood vessel PMID:15729290|REF_RGD_ID:1624213 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:10908 hydrocephalus ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:15964663|REF_RGD_ID:1624238 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9527842 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:12337 varicocele ISO RGD:621314 D RGD:9068941 20200609 RGD mRNA:increased expression:spermatid PMID:15804863|REF_RGD_ID:1624240 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:12849 autistic disorder ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:15138176|REF_RGD_ID:12910475 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:13544 low tension glaucoma ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:20858111|REF_RGD_ID:10402863 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:14250 Down syndrome ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:12515899|REF_RGD_ID:10402838 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:14330 Parkinson's disease ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:23943523|REF_RGD_ID:10402846 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:1485 cystic fibrosis ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8255671|REF_RGD_ID:12910480 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:2349 arteriosclerosis ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:17070529|REF_RGD_ID:1624204 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:18414213|PMID:22552817|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27630992|PMID:28166811|PMID:28492532|PMID:28832565 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:733895 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:22552817|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27630992|PMID:28492532|PMID:28832565 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:2476 hereditary spastic paraplegia susceptibility ISO RGD:733895 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.V72I PMID:11898127|REF_RGD_ID:1624200 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:299 adenocarcinoma ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:3393 coronary artery disease severity ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:11222468|REF_RGD_ID:1624218 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:3407 carotid artery disease ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16579988|REF_RGD_ID:1581882 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:3525 middle cerebral artery infarction ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:3770 pulmonary fibrosis ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:11746186|REF_RGD_ID:12910545 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:4195 hyperglycemia ISO RGD:621314 D RGD:9068941 20200609 RGD protein:increased expression PMID:15961182|REF_RGD_ID:1624212 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:4450 renal cell carcinoma ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:5844 myocardial infarction ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:17202668|REF_RGD_ID:1624230 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:607 paraplegia ISO RGD:733895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:17420924|PMID:17576681|PMID:18414213|PMID:21520333|PMID:22552817|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27630992|PMID:28492532|PMID:28832565|PMID:9536098 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:630 genetic disease ISO RGD:733895 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:serum,synovial fluid: PMID:8255671|REF_RGD_ID:12910480 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:7148 rheumatoid arthritis ISO RGD:733895 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood leukocyte: PMID:21417552|REF_RGD_ID:10402843 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15378696|PMID:19424620 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:621314 D RGD:9068941 20200609 RGD mRNA:increased expression:brain stem PMID:14753490|REF_RGD_ID:1624246 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9000528 Coronary Disease ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:12059985|REF_RGD_ID:1624217 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:12921987|REF_RGD_ID:1624216 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9001205 Experimental Autoimmune Orchitis ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:16092147|REF_RGD_ID:1624236 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21751358 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9001916 Fetal Death ISO RGD:733896 D RGD:9068941 20200609 RGD PMID:20393889|REF_RGD_ID:12910472 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9002457 Experimental Arthritis ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:10882416|PMID:15529360|REF_RGD_ID:12910542|REF_RGD_ID:1624244 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9002669 Hypoxia ISO RGD:621314 D RGD:9068941 20200609 RGD associated with Brain Injuries;mRNA:increased expression:brain PMID:17439344|REF_RGD_ID:1624228 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9004283 Transplant Rejection ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:23953577|REF_RGD_ID:12910541 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9004397 Calcification of Aortic Valve severity ISO RGD:733895 D RGD:9068941 20200609 RGD PMID:15120829|REF_RGD_ID:12910476 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9004484 Sepsis ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:23143056|REF_RGD_ID:10402864 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9004484 Sepsis ISO RGD:621314 D RGD:9068941 20200609 RGD associated with burns;protein:decreased expression:skeletal muscle PMID:16483253|REF_RGD_ID:1624233 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9005005 Oral Ulcer ISO RGD:733895 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:muccal mucosa: PMID:20580281|REF_RGD_ID:12910477 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9005106 Animal Toxoplasmosis ISO RGD:733896 D RGD:9068941 20200609 RGD PMID:8881756|REF_RGD_ID:12910478 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:17280490|REF_RGD_ID:1624229 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9005930 Endotoxemia ISO RGD:621314 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:medulla oblongata PMID:16675490|REF_RGD_ID:1624232 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9005930 Endotoxemia ISO RGD:733895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9007102 Myocardial Ischemia ISO RGD:621314 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:12872233|REF_RGD_ID:1624250 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9007355 Hashimoto Disease ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:throcyte: PMID:9161695|REF_RGD_ID:12910543 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9007692 Insulin Resistance ISO RGD:621314 D RGD:9068941 20200609 RGD PMID:18948349|REF_RGD_ID:10402862 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9008217 Hemorrhage ISO RGD:621314 D RGD:9068941 20200609 RGD associated with Wounds and Injuries;mRNA, protein:decreased expression:heart PMID:16288780|REF_RGD_ID:1624234 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9074 systemic lupus erythematosus ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:8255671|REF_RGD_ID:12910480 9039765 Hspd1 heat shock protein family D (Hsp60) member 1 gene DOID:9663 aphthous stomatitis ISO RGD:733895 D RGD:9068941 20200609 RGD protein:increased expression:muccal mucosa: PMID:20580281|REF_RGD_ID:12910477 9039786 Synpo2l synaptopodin 2 like gene DOID:0060224 atrial fibrillation ISO RGD:1348800 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 9039786 Synpo2l synaptopodin 2 like gene DOID:630 genetic disease ISO RGD:1348800 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:62246 D RGD:9068941 20220825 MouseDO 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:0060074 ductal carcinoma in situ ISO RGD:732793 D RGD:9068941 20200609 RGD PMID:22886747|REF_RGD_ID:7775026 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:0060224 atrial fibrillation ISO RGD:732793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:732793 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:12849 autistic disorder ISO RGD:732793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:5199 ureteral obstruction ISO RGD:61953 D RGD:9068941 20210312 RGD protein:increased activity:kidney: PMID:15629889|REF_RGD_ID:8693572 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:5419 schizophrenia ISO RGD:732793 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:576 proteinuria ISO RGD:732793 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20071462 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:630 genetic disease ISO RGD:732793 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:9000127 Knobloch Syndrome Type II ISO RGD:732793 D RGD:7240710 20220810 OMIM 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:9000127 Knobloch Syndrome Type II ISO RGD:732793 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Knobloch syndrome 2 PMID:25741868 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:9002033 Knobloch Syndrome ISO RGD:732793 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Knobloch syndrome PMID:14695535|PMID:33693784|PMID:9677068 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:61953 D RGD:9068941 20210312 RGD PMID:20071462|REF_RGD_ID:9835041 9039797 Pak2 p21 (RAC1) activated kinase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:732793 D RGD:9068941 20200609 RGD PMID:22886747|REF_RGD_ID:7775026 9039818 Ank2 ankyrin 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:28492532 9039818 Ank2 ankyrin 2 gene DOID:0050451 Brugada syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23631430|PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532|PMID:30847666 9039818 Ank2 ankyrin 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:12571597|PMID:15075330|PMID:15178757|PMID:16253912|PMID:17161064|PMID:17242276|PMID:18782775|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24448499|PMID:24828792|PMID:25351510|PMID:25649125|PMID:25741868|PMID:26159999|PMID:26168218|PMID:26230511|PMID:27298202|PMID:27435932|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28750076|PMID:28988457|PMID:30276209|PMID:30615648|PMID:31638414|PMID:33029862 9039818 Ank2 ankyrin 2 gene DOID:0050790 fibular hypoplasia and complex brachydactyly ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Du pan syndrome PMID:228900|PMID:258150 9039818 Ank2 ankyrin 2 gene DOID:0050824 sinoatrial node disease ISO RGD:1620669 D RGD:9068941 20220825 MouseDO 9039818 Ank2 ankyrin 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 9039818 Ank2 ankyrin 2 gene DOID:0060224 atrial fibrillation ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:17161064|PMID:23861362|PMID:24448499|PMID:25649125|PMID:25741868|PMID:26159999|PMID:28492532 9039818 Ank2 ankyrin 2 gene DOID:0060224 atrial fibrillation onset ISO RGD:1317291 D RGD:9068941 20200609 RGD PMID:21859974|REF_RGD_ID:6767284 9039818 Ank2 ankyrin 2 gene DOID:0060319 cardiac arrest ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:25741868|PMID:28492532|PMID:28600387|PMID:30564305 9039818 Ank2 ankyrin 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317291 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:16253912|PMID:22581653|PMID:25351510|PMID:25741868|PMID:26771585|PMID:28191889|PMID:28492532|PMID:28518168|PMID:30564305|PMID:32461654 9039818 Ank2 ankyrin 2 gene DOID:0070188 spermatogenic failure 1 ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oligosynaptic infertility PMID:228900|PMID:258150 9039818 Ank2 ankyrin 2 gene DOID:0110120 Axenfeld-Rieger syndrome type 1 ISO RGD:1317291 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:25741868 9039818 Ank2 ankyrin 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1317291 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:18832177|PMID:22581653|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:31862442|PMID:7485162 9039818 Ank2 ankyrin 2 gene DOID:0110645 long QT syndrome 2 ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:12571597|PMID:15178757|PMID:17242276|PMID:25741868|PMID:26230511|PMID:28492532 9039818 Ank2 ankyrin 2 gene DOID:0111700 ankyrin-B-related cardiac arrhythmia ISO RGD:1317291 D RGD:7240710 20180130 OMIM 9039818 Ank2 ankyrin 2 gene DOID:0111700 ankyrin-B-related cardiac arrhythmia ISO RGD:1317291 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: ANK2-related condition | ClinVar Annotator: match by term: ANKYRIN-B SYNDROME | ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related | ClinVar Annotator: match by term: Long QT syndrome 4 PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25741868|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27110552|PMID:27112610|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27854218|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28518168|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29784605|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30086531|PMID:30276209|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32461654|PMID:32746448|PMID:33004838|PMID:33029862|PMID:34088380|PMID:7485162|PMID:9536098 9039818 Ank2 ankyrin 2 gene DOID:0111701 long QT syndrome 4 ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANK2-associated Complex Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: ANK2-related Autism | ClinVar Annotator: match by term: Long QT syndrome 4 PMID:12571597|PMID:15075330|PMID:15178757|PMID:16253912|PMID:17242276|PMID:18782775|PMID:18832177|PMID:22581653|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:27435932|PMID:28074886|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:30615648|PMID:7485162 9039818 Ank2 ankyrin 2 gene DOID:1059 intellectual disability ISO RGD:1317291 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:23396983|PMID:25351510|PMID:25741868|PMID:28255936|PMID:28492532|PMID:30847666 9039818 Ank2 ankyrin 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12571597|PMID:15178757|PMID:17242276|PMID:22581653|PMID:23174487|PMID:25741868|PMID:26230511|PMID:28492532|PMID:28589536|PMID:28988457|PMID:30276209|PMID:31638414 9039818 Ank2 ankyrin 2 gene DOID:12271 aniridia ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital aniridia 9039818 Ank2 ankyrin 2 gene DOID:12849 autistic disorder ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior 9039818 Ank2 ankyrin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25351510|PMID:25741868|PMID:28341588|PMID:28492532|PMID:30415094|PMID:33004838 9039818 Ank2 ankyrin 2 gene DOID:13884 sick sinus syndrome susceptibility ISO RGD:1317291 D RGD:9068941 20200609 RGD PMID:15178757|REF_RGD_ID:1599114 9039818 Ank2 ankyrin 2 gene DOID:224 transient cerebral ischemia ISO RGD:620156 D RGD:9068941 20200609 RGD PMID:9202331|REF_RGD_ID:1599109 9039818 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26230511|PMID:26350513|PMID:27110552|PMID:27298202|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27854218|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:29874177|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:7485162|PMID:9536098 9039818 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31862442|PMID:33004838|PMID:33029862|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 9039818 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31862442|PMID:33004838|PMID:33029862|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 9039818 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16199547|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27854218|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32233023|PMID:32600061|PMID:32746448|PMID:33004838|PMID:33029862|PMID:33762593|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 9039818 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16199547|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27784853|PMID:27824329|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31264976|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32233023|PMID:32508047|PMID:32600061|PMID:32746448|PMID:33004838|PMID:33029862|PMID:33762593|PMID:33919104|PMID:34088380|PMID:7485162|PMID:9536098 9039818 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome ISO RGD:1317291 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated PMID:11334825|PMID:12571597|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16199547|PMID:16253912|PMID:16650839|PMID:16864073|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17576681|PMID:17928548|PMID:17940615|PMID:18782775|PMID:18832177|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24448499|PMID:24828792|PMID:24981977|PMID:25333069|PMID:25351510|PMID:25447171|PMID:25632041|PMID:25649125|PMID:25650408|PMID:25661095|PMID:25741868|PMID:25877686|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26168218|PMID:26220970|PMID:26230511|PMID:26350513|PMID:26771585|PMID:26899768|PMID:27005929|PMID:27110552|PMID:27298202|PMID:27332903|PMID:27391121|PMID:27435932|PMID:27650965|PMID:27784853|PMID:27824329|PMID:27854218|PMID:27871843|PMID:27875062|PMID:27930701|PMID:28074886|PMID:28166282|PMID:28166811|PMID:28191889|PMID:28255936|PMID:28263302|PMID:28341588|PMID:28492532|PMID:28518168|PMID:28589536|PMID:28600387|PMID:28736713|PMID:28750076|PMID:28831199|PMID:28855170|PMID:28988457|PMID:29071820|PMID:29133412|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29706635|PMID:29784605|PMID:29790872|PMID:29874177|PMID:29892012|PMID:30036649|PMID:30086531|PMID:30276209|PMID:30369311|PMID:30415094|PMID:30471092|PMID:30564305|PMID:30615648|PMID:30821013|PMID:30847666|PMID:31130284|PMID:31264976|PMID:31638414|PMID:31737537|PMID:31862442|PMID:32183154|PMID:32233023|PMID:32461654|PMID:32508047|PMID:32600061|PMID:32746448|PMID:33004838|PMID:33029862|PMID:33762593|PMID:33919104|PMID:34088380|PMID:37195288|PMID:7485162|PMID:9536098 9039818 Ank2 ankyrin 2 gene DOID:2843 long QT syndrome susceptibility ISO RGD:1317291 D RGD:9068941 20200609 RGD PMID:12571597|REF_RGD_ID:734572 9039818 Ank2 ankyrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:28492532 9039818 Ank2 ankyrin 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28191889|PMID:28492532|PMID:32233023 9039818 Ank2 ankyrin 2 gene DOID:6000 congestive heart failure ISO RGD:1317291 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 9039818 Ank2 ankyrin 2 gene DOID:630 genetic disease ISO RGD:1317291 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15262991|PMID:16253912|PMID:17576681|PMID:18790697|PMID:22581653|PMID:25351510|PMID:25741868|PMID:26771585|PMID:27784853|PMID:28191889|PMID:28492532|PMID:28518168|PMID:30564305|PMID:32183154|PMID:32461654|PMID:9536098 9039818 Ank2 ankyrin 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:23861362|PMID:25741868|PMID:27871843|PMID:28492532 9039818 Ank2 ankyrin 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:11334825|PMID:15075330|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:17161064|PMID:17242276|PMID:17261669|PMID:17928548|PMID:17940615|PMID:18782775|PMID:19394342|PMID:19862833|PMID:22411828|PMID:22581653|PMID:22995991|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:25333069|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26168218|PMID:27298202|PMID:27435932|PMID:28074886|PMID:28492532|PMID:30615648 9039818 Ank2 ankyrin 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:11334825|PMID:15178757|PMID:15970537|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17261669|PMID:22581653|PMID:23861362|PMID:25333069|PMID:25741868|PMID:28492532 9039818 Ank2 ankyrin 2 gene DOID:9001836 Cardiac Conduction Defect ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17928548|PMID:17940615|PMID:18832177|PMID:19394342|PMID:22411828|PMID:22581653|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24981977|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26350513|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:33919104|PMID:7485162 9039818 Ank2 ankyrin 2 gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1317291 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532|PMID:30847666 9039818 Ank2 ankyrin 2 gene DOID:9002955 Nerve Degeneration ISO RGD:620156 D RGD:9068941 20200609 RGD PMID:12949909|REF_RGD_ID:1599116 9039818 Ank2 ankyrin 2 gene DOID:9003163 Heart Block ISO RGD:1317291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:17928548|PMID:17940615|PMID:18832177|PMID:19394342|PMID:22411828|PMID:22581653|PMID:23174487|PMID:23396983|PMID:23631430|PMID:23861362|PMID:24025405|PMID:24033266|PMID:24981977|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26350513|PMID:28074886|PMID:28255936|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:33919104|PMID:7485162 9039818 Ank2 ankyrin 2 gene DOID:9003516 Channelopathies ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Channelopathy 9039818 Ank2 ankyrin 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder 9039818 Ank2 ankyrin 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1317291 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:12571597|PMID:15178757|PMID:16253912|PMID:16650839|PMID:17242276|PMID:18832177|PMID:22581653|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26350513|PMID:28074886|PMID:28341588|PMID:28492532|PMID:28988457|PMID:29198934|PMID:29247119|PMID:29431110|PMID:29790872|PMID:31862442|PMID:7485162 9039818 Ank2 ankyrin 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1317291 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838 9039818 Ank2 ankyrin 2 gene DOID:9005444 Torsades de Pointes ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Torsades de pointes PMID:17161064|PMID:22581653 9039818 Ank2 ankyrin 2 gene DOID:9006030 Infant Death ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:15075330|PMID:15178757|PMID:16253912|PMID:18782775|PMID:22581653|PMID:23631430|PMID:23861362|PMID:24025405|PMID:25351510|PMID:25741868|PMID:27435932|PMID:28492532|PMID:30615648 9039818 Ank2 ankyrin 2 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1317291 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:28492532 9039818 Ank2 ankyrin 2 gene DOID:9007096 Stroke ISO RGD:1317291 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29531354 9039818 Ank2 ankyrin 2 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620156 D RGD:9068941 20200609 RGD PMID:9378703|REF_RGD_ID:1599110 9039818 Ank2 ankyrin 2 gene DOID:9007925 Sudden Cardiac Death ISO RGD:1317291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532 9039903 Tomm6 translocase of outer mitochondrial membrane 6 gene DOID:0050444 infantile Refsum disease ISO RGD:2300132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9039903 Tomm6 translocase of outer mitochondrial membrane 6 gene DOID:630 genetic disease ISO RGD:2300132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039903 Tomm6 translocase of outer mitochondrial membrane 6 gene DOID:905 Zellweger syndrome ISO RGD:2300132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9039915 Dnajb4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:0081353 congenital myopathy 21 ISO RGD:1314092 D RGD:7240710 20230505 OMIM 9039915 Dnajb4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:0081353 congenital myopathy 21 ISO RGD:1314092 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Congenital myopathy 21 with early respiratory failure PMID:36264506|PMID:36344539 9039915 Dnajb4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:11720 distal myopathy ISO RGD:1314093 D RGD:9068941 20230330 MouseDO 9039915 Dnajb4 DnaJ heat shock protein family (Hsp40) member B4 gene DOID:630 genetic disease ISO RGD:1314092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039936 LOC102018324 chromosome unknown open reading frame, human C6orf47 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1354435 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9039936 LOC102018324 chromosome unknown open reading frame, human C6orf47 gene DOID:11372 megacolon ISO RGD:1354435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9039936 LOC102018324 chromosome unknown open reading frame, human C6orf47 gene DOID:630 genetic disease ISO RGD:1354435 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039947 Vangl2 VANGL planar cell polarity protein 2 gene DOID:0080016 spina bifida ISO RGD:1319787 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21404367 9039947 Vangl2 VANGL planar cell polarity protein 2 gene DOID:0080074 neural tube defect ISO RGD:1319787 D RGD:7240710 20230505 OMIM 9039947 Vangl2 VANGL planar cell polarity protein 2 gene DOID:0080074 neural tube defect ISO RGD:1319787 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to PMID:20558380|PMID:25741868 9039947 Vangl2 VANGL planar cell polarity protein 2 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 9039947 Vangl2 VANGL planar cell polarity protein 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9039947 Vangl2 VANGL planar cell polarity protein 2 gene DOID:630 genetic disease ISO RGD:1319787 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039947 Vangl2 VANGL planar cell polarity protein 2 gene DOID:9002265 Kidney Neoplasms ISO RGD:1319787 D RGD:9068941 20200609 RGD mRNA:decreased expression:primary tumor:reduced in 4/14 cases PMID:12011999|REF_RGD_ID:2298799 9039947 Vangl2 VANGL planar cell polarity protein 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319787 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9039972 Stambpl1 STAM binding protein like 1 gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1603015 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:18456716|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9467011 9039972 Stambpl1 STAM binding protein like 1 gene DOID:630 genetic disease ISO RGD:1603015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9039972 Stambpl1 STAM binding protein like 1 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1603015 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant PMID:10875918|PMID:22237435|PMID:28492532 9039994 Fmr1nb FMR1 neighbor gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 9039994 Fmr1nb FMR1 neighbor gene DOID:12849 autistic disorder ISO RGD:1346520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9039994 Fmr1nb FMR1 neighbor gene DOID:630 genetic disease ISO RGD:1346520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040015 Asap2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 gene DOID:630 genetic disease ISO RGD:1313189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040059 Stk32b serine/threonine kinase 32B gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1314640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 9040059 Stk32b serine/threonine kinase 32B gene DOID:2843 long QT syndrome ISO RGD:1314640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 9040059 Stk32b serine/threonine kinase 32B gene DOID:630 genetic disease ISO RGD:1314640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040059 Stk32b serine/threonine kinase 32B gene DOID:6678 tooth and nail syndrome ISO RGD:1314640 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 9040077 Mlst8 MTOR associated protein, LST8 homolog gene DOID:0080325 tuberous sclerosis 2 ISO RGD:736229 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 9040077 Mlst8 MTOR associated protein, LST8 homolog gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:736229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 9040077 Mlst8 MTOR associated protein, LST8 homolog gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:736229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9040077 Mlst8 MTOR associated protein, LST8 homolog gene DOID:1826 epilepsy ISO RGD:736229 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9040077 Mlst8 MTOR associated protein, LST8 homolog gene DOID:1827 idiopathic generalized epilepsy ISO RGD:736229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9040077 Mlst8 MTOR associated protein, LST8 homolog gene DOID:2871 endometrial carcinoma ISO RGD:736229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 9040077 Mlst8 MTOR associated protein, LST8 homolog gene DOID:630 genetic disease ISO RGD:736229 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040077 Mlst8 MTOR associated protein, LST8 homolog gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736229 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0050451 Brugada syndrome ISO RGD:1342640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:20129283|PMID:22789973|PMID:28492532 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:735313 D RGD:9068941 20220825 MouseDO 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0070145 hereditary sensory and autonomic neuropathy type 5 ISO RGD:1342640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers PMID:24207120|PMID:25741868 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1342640 D RGD:7240710 20180130 OMIM 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0070149 hereditary sensory and autonomic neuropathy type 7 ISO RGD:1342640 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 7 PMID:16199547|PMID:17576681|PMID:24036948|PMID:24207120|PMID:24776970|PMID:25118027|PMID:25741868|PMID:25791876|PMID:26220970|PMID:26423924|PMID:26746779|PMID:27224030|PMID:27503742|PMID:27781142|PMID:28166811|PMID:28289907|PMID:28298626|PMID:28492532|PMID:29213238|PMID:29389947|PMID:29419974|PMID:30046661|PMID:30395542|PMID:30533233|PMID:30554136|PMID:30557356|PMID:32581362|PMID:34169998|PMID:34356170|PMID:9536098 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:24776970|PMID:25741868|PMID:28492532 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0111731 familial episodic pain syndrome 3 ISO RGD:1342640 D RGD:7240710 20180130 OMIM 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:0111731 familial episodic pain syndrome 3 ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Episodic pain syndrome, familial, 3 PMID:24207120|PMID:24776970|PMID:25741868|PMID:25791876|PMID:28298626|PMID:28492532|PMID:30046661|PMID:30554136|PMID:30557356 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1342640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16199547|PMID:24776970|PMID:25741868|PMID:25791876|PMID:28492532|PMID:29213238|PMID:30554136 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1342640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:28492532|PMID:32581362 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:630 genetic disease ISO RGD:1342640 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17576681|PMID:24207120|PMID:24776970|PMID:25741868|PMID:25791876|PMID:28166811|PMID:28298626|PMID:28492532|PMID:29213238|PMID:30046661|PMID:30533233|PMID:30554136|PMID:30557356|PMID:32581362|PMID:34169998|PMID:34356170|PMID:9536098 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:9002211 Hyperalgesia ISO RGD:1342640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23264124 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:9008482 Congenital Pain Insensitivity ISO RGD:1342640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036948 9040095 Scn11a sodium voltage-gated channel alpha subunit 11 gene DOID:9008496 Visceral Heterotaxy 4, Autosomal ISO RGD:1342640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal PMID:28492532 9040127 Smap1 small ArfGAP 1 gene DOID:630 genetic disease ISO RGD:1347252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040141 Cenpv centromere protein V gene DOID:630 genetic disease ISO RGD:1351678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040149 Znf281 zinc finger protein 281 gene DOID:1540 parathyroid carcinoma ISO RGD:1312996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9040149 Znf281 zinc finger protein 281 gene DOID:630 genetic disease ISO RGD:1312996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040149 Znf281 zinc finger protein 281 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:0050439 Usher syndrome ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:12075507|PMID:15537665|PMID:18273900|PMID:21228398|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:0050439 Usher syndrome ISO RGD:1346064 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dystrophia retinae pigmentosa-dysostosis syndrome | ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:0050439 Usher syndrome ISO RGD:1346064 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:16199547|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:21940737|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35020051 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1346064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:11090341|PMID:11138009|PMID:16679490|PMID:21940737|PMID:25741868|PMID:28492532|PMID:30303587 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:0110467 autosomal recessive nonsyndromic deafness 12 ISO RGD:1346064 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17850630|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22899989|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:27610647|PMID:28492532|PMID:28847902|PMID:30303587|PMID:31445392|PMID:31541171|PMID:35020051 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:0110826 Usher syndrome type 1 ISO RGD:1346064 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:11090341|PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:16199547|PMID:17576681|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:20613545|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:27460420|PMID:28492532|PMID:30311386|PMID:35020051|PMID:9536098 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:24033266|PMID:25741868|PMID:28492532 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:0110831 Usher syndrome type 1D ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D PMID:11090341|PMID:11138009|PMID:12075507|PMID:15537665|PMID:15660226|PMID:17850630|PMID:18273900|PMID:18429043|PMID:20146813|PMID:20613545|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22899989|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:25991456|PMID:26467025|PMID:27610647|PMID:28492532|PMID:28847902|PMID:30303587|PMID:30311386|PMID:31445392 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:0112008 pituitary adenoma 5 ISO RGD:1346064 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:16199547|PMID:18273900|PMID:19683999|PMID:21228398|PMID:21940737|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:27957503|PMID:28413019|PMID:28492532|PMID:28944237|PMID:35020051 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:630 genetic disease ISO RGD:1346064 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11090341|PMID:11138009|PMID:20613545|PMID:21940737|PMID:24033266|PMID:25741868|PMID:28492532 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:8501 fundus dystrophy ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:28492532 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1346064 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:9003365 Usher Syndrome Type 1B ISO RGD:1346064 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35020051 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:9004538 Hearing Loss ISO RGD:1346064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:25741868|PMID:28492532|PMID:30311386 9040167 CUNH10orf105 chromosome unknown C10orf105 homolog gene DOID:9849 Meniere's disease ISO RGD:1346064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:18429043|PMID:24033266|PMID:25741868|PMID:28492532 9040182 Gab2 GRB2 associated binding protein 2 gene DOID:1059 intellectual disability ISO RGD:737428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9040182 Gab2 GRB2 associated binding protein 2 gene DOID:1909 melanoma ISO RGD:737428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22535842 9040182 Gab2 GRB2 associated binding protein 2 gene DOID:630 genetic disease ISO RGD:737428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040182 Gab2 GRB2 associated binding protein 2 gene DOID:8552 chronic myeloid leukemia disease_progression ISO RGD:737428 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow PMID:22858987|REF_RGD_ID:13699433 9040182 Gab2 GRB2 associated binding protein 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21996746 9040182 Gab2 GRB2 associated binding protein 2 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21996746 9040197 Mterf3 mitochondrial transcription termination factor 3 gene DOID:0080589 Klippel-Feil syndrome 1 ISO RGD:1603051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant PMID:24442880|PMID:28492532 9040197 Mterf3 mitochondrial transcription termination factor 3 gene DOID:630 genetic disease ISO RGD:1603051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040220 Tmem101 transmembrane protein 101 gene DOID:630 genetic disease ISO RGD:1601840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040228 Diablo diablo IAP-binding mitochondrial protein gene DOID:0050564 autosomal dominant nonsyndromic deafness ISO RGD:1322043 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA PMID:25741868 9040228 Diablo diablo IAP-binding mitochondrial protein gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1322043 D RGD:7240710 20180130 OMIM 9040228 Diablo diablo IAP-binding mitochondrial protein gene DOID:0110585 autosomal dominant nonsyndromic deafness 64 ISO RGD:1322043 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 64 PMID:21722859|PMID:25741868 9040228 Diablo diablo IAP-binding mitochondrial protein gene DOID:12858 Huntington's disease ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12930891 9040228 Diablo diablo IAP-binding mitochondrial protein gene DOID:2316 brain ischemia ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11756504 9040228 Diablo diablo IAP-binding mitochondrial protein gene DOID:3908 lung non-small cell carcinoma ISO RGD:1322043 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:16231180|REF_RGD_ID:13434909 9040228 Diablo diablo IAP-binding mitochondrial protein gene DOID:630 genetic disease ISO RGD:1322043 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 9040228 Diablo diablo IAP-binding mitochondrial protein gene DOID:9002304 Prostatic Neoplasms ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17718901 9040228 Diablo diablo IAP-binding mitochondrial protein gene DOID:9004538 Hearing Loss ISO RGD:1322043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:28492532|PMID:30311386 9040228 Diablo diablo IAP-binding mitochondrial protein gene DOID:9006041 Osteoarthritis, Hip ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 9040228 Diablo diablo IAP-binding mitochondrial protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1322043 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 9040259 Tmem33 transmembrane protein 33 gene DOID:630 genetic disease ISO RGD:1353146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040273 Ntn3 netrin 3 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:732796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 9040273 Ntn3 netrin 3 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:732796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9040273 Ntn3 netrin 3 gene DOID:1826 epilepsy ISO RGD:732796 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9040273 Ntn3 netrin 3 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:732796 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9040273 Ntn3 netrin 3 gene DOID:630 genetic disease ISO RGD:732796 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:0050902 medulloblastoma ISO RGD:1348861 D RGD:8554872 20230718 ClinVar ClinVar Annotator: match by term: Classic medulloblastoma 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:0060798 hypomyelinating leukodystrophy 6 ISO RGD:1348861 D RGD:7240710 20180130 OMIM 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:0060798 hypomyelinating leukodystrophy 6 ISO RGD:1348861 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6 PMID:16707859|PMID:18466252|PMID:18851904|PMID:23190606|PMID:23424103|PMID:23582646|PMID:23595291|PMID:24088041|PMID:24526230|PMID:24706558|PMID:24742798|PMID:24785942|PMID:24850488|PMID:24974158|PMID:25085639|PMID:25168210|PMID:25326635|PMID:25326637|PMID:25356970|PMID:25497598|PMID:25545912|PMID:25697102|PMID:25741868|PMID:25772097|PMID:26633545|PMID:26643067|PMID:26795593|PMID:27538619|PMID:28275661|PMID:28492532|PMID:28592043|PMID:28791129|PMID:28973395|PMID:29451896|PMID:30079973|PMID:3156966|PMID:31692161|PMID:32581362|PMID:33027950|PMID:33597727|PMID:3405308|PMID:34514881|PMID:7983175 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:0080490 mucolipidosis type IV ISO RGD:1348861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:0090041 torsion dystonia 4 ISO RGD:1348861 D RGD:7240710 20180130 OMIM 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:0090041 torsion dystonia 4 ISO RGD:1348861 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Torsion dystonia 4 PMID:16707859|PMID:18466252|PMID:18851904|PMID:23424103|PMID:23582646|PMID:23595291|PMID:24526230|PMID:24706558|PMID:24785942|PMID:24850488|PMID:25085639|PMID:25326635|PMID:25545912|PMID:25741868|PMID:26643067|PMID:28275661|PMID:28492532|PMID:28592043|PMID:28791129|PMID:28973395|PMID:30079973|PMID:3156966|PMID:31692161|PMID:3405308|PMID:7983175 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:10907 microcephaly ISO RGD:1348861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25085639|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28973395|PMID:32581362 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:1969 cerebral palsy ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:18851904|PMID:24526230|PMID:24850488|PMID:25085639|PMID:25326637|PMID:25741868|PMID:28275661|PMID:28492532|PMID:28973395|PMID:32581362 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:3213 demyelinating disease ISO RGD:619730 D RGD:9068941 20210910 RGD DNA:missense mutation:cds:p.Ala302Thr (rat) PMID:28393430|REF_RGD_ID:150429639 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:543 dystonia ISO RGD:1348861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:630 genetic disease ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22791712|PMID:24706558|PMID:24742798|PMID:24850488|PMID:24974158|PMID:25085639|PMID:25168210|PMID:25326637|PMID:25356970|PMID:25741868|PMID:26795593|PMID:28275661|PMID:28393430|PMID:28492532|PMID:28973395|PMID:29451896|PMID:32581362 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:9006534 Nervous System Malformations ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16707859|PMID:18466252|PMID:23582646|PMID:24706558|PMID:24785942|PMID:24850488|PMID:25326635|PMID:25545912|PMID:25741868|PMID:28492532|PMID:28973395|PMID:30079973|PMID:7983175 9040287 Tubb4a tubulin beta 4A class IVa gene DOID:9008086 Developmental Disabilities ISO RGD:1348861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18851904|PMID:24526230|PMID:24785942|PMID:24850488|PMID:25741868|PMID:28275661|PMID:28492532|PMID:32581362 9040294 Mos MOS proto-oncogene, serine/threonine kinase gene DOID:630 genetic disease ISO RGD:735699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040294 Mos MOS proto-oncogene, serine/threonine kinase gene DOID:9002870 Oocyte/Zygote/Embryo Maturation Arrest 20 ISO RGD:735699 D RGD:7240710 20230531 OMIM 9040294 Mos MOS proto-oncogene, serine/threonine kinase gene DOID:9002870 Oocyte/Zygote/Embryo Maturation Arrest 20 ISO RGD:735699 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 20 PMID:34779126|PMID:34997960|PMID:35670744|PMID:36403623 9040298 Ahctf1 AT-hook containing transcription factor 1 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1603679 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 9040298 Ahctf1 AT-hook containing transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities 9040298 Ahctf1 AT-hook containing transcription factor 1 gene DOID:13938 amenorrhea ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9040298 Ahctf1 AT-hook containing transcription factor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9040298 Ahctf1 AT-hook containing transcription factor 1 gene DOID:540 strabismus ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Strabismus 9040298 Ahctf1 AT-hook containing transcription factor 1 gene DOID:630 genetic disease ISO RGD:1603679 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040298 Ahctf1 AT-hook containing transcription factor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603679 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9040341 C7 complement C7 gene DOID:0060300 complement component 7 deficiency ISO RGD:1317399 D RGD:7240710 20180130 OMIM 9040341 C7 complement C7 gene DOID:0060300 complement component 7 deficiency ISO RGD:1317399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: C7-related condition | ClinVar Annotator: match by term: Complement component 7 deficiency PMID:12869030|PMID:15554930|PMID:15831990|PMID:16199547|PMID:16771861|PMID:17407100|PMID:17576681|PMID:19931914|PMID:25741868|PMID:28492532|PMID:31440263|PMID:8871666|PMID:8892662|PMID:9218625|PMID:9536098|PMID:9856499 9040341 C7 complement C7 gene DOID:10976 membranous glomerulonephritis ISO RGD:620318 D RGD:9068941 20200609 RGD PMID:6241952|REF_RGD_ID:1599528 9040341 C7 complement C7 gene DOID:11832 visual epilepsy ISO RGD:620318 D RGD:9068941 20200609 RGD Protein:increased activity:brain PMID:12574424|REF_RGD_ID:1599523 9040341 C7 complement C7 gene DOID:5844 myocardial infarction ISO RGD:620318 D RGD:9068941 20200609 RGD Protein:increased activity:serum, myocardium PMID:15724448|REF_RGD_ID:1599522 9040341 C7 complement C7 gene DOID:630 genetic disease ISO RGD:1317399 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9040341 C7 complement C7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317399 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9040341 C7 complement C7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9040354 Prg4 proteoglycan 4 gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1319063 D RGD:7240710 20180130 OMIM 9040354 Prg4 proteoglycan 4 gene DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome PMID:10545950|PMID:25741868|PMID:29397575|PMID:32860008 9040354 Prg4 proteoglycan 4 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 9040354 Prg4 proteoglycan 4 gene DOID:1540 parathyroid carcinoma ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9040354 Prg4 proteoglycan 4 gene DOID:1787 pericarditis ISO RGD:1319063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 9040354 Prg4 proteoglycan 4 gene DOID:1787 pericarditis ISO RGD:1319063 D RGD:9068941 20200609 RGD PMID:16429407|REF_RGD_ID:1580712 9040354 Prg4 proteoglycan 4 gene DOID:630 genetic disease ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040354 Prg4 proteoglycan 4 gene DOID:9002221 Hyperplasia ISO RGD:1319063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 9040354 Prg4 proteoglycan 4 gene DOID:9006836 Contracture ISO RGD:1319063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10545950 9040354 Prg4 proteoglycan 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9040378 Znf48 zinc finger protein 48 gene DOID:10283 prostate cancer ISO RGD:1343499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9040378 Znf48 zinc finger protein 48 gene DOID:630 genetic disease ISO RGD:1343499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1354110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:0080690 RASopathy ISO RGD:1354110 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:0081330 glycogen storage disease Ib ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:0110651 long QT syndrome 10 ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1354110 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1354110 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:3070 high grade glioma ISO RGD:1354110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578367 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:630 genetic disease ISO RGD:1354110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:9002173 osteogenesis imperfecta type 23 ISO RGD:1354110 D RGD:7240710 20240214 OMIM 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:9002173 osteogenesis imperfecta type 23 ISO RGD:1354110 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type XXIII PMID:36543534 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9040384 Phldb1 pleckstrin homology like domain family B member 1 gene DOID:9007661 Dwarfism ISO RGD:1354110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9040448 Tgfbr3l transforming growth factor beta receptor 3 like gene DOID:0080490 mucolipidosis type IV ISO RGD:6770737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 9040448 Tgfbr3l transforming growth factor beta receptor 3 like gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:6770737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 9040448 Tgfbr3l transforming growth factor beta receptor 3 like gene DOID:630 genetic disease ISO RGD:6770737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040460 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080307 myofibrillar myopathy ISO RGD:1605346 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9040460 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080308 myofibrillar myopathy 8 ISO RGD:1605346 D RGD:7240710 20190315 OMIM 9040460 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0080308 myofibrillar myopathy 8 ISO RGD:1605346 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 8 PMID:17576681|PMID:25741868|PMID:27745833|PMID:28492532|PMID:30345904|PMID:30515627|PMID:31455395|PMID:32037607|PMID:33694278|PMID:9536098 9040460 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:0110451 dilated cardiomyopathy 1O ISO RGD:1605346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:28492532 9040460 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1605346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:32566746 9040460 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:630 genetic disease ISO RGD:1605346 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9040460 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9001941 RECON PROGEROID SYNDROME ISO RGD:1605346 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: RECQL-related condition PMID:25741868|PMID:28492532 9040460 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:30224651 9040460 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:25741868|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:32566746 9040460 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15096578|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:32566746|PMID:33471991 9040460 Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605346 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15096578|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:32566746|PMID:33471991|PMID:35264596 9040490 Mss51 MSS51 mitochondrial translational activator gene DOID:630 genetic disease ISO RGD:1319740 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040504 Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta gene DOID:0050700 cardiomyopathy ISO RGD:737555 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18342293 9040504 Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta gene DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 ISO RGD:737555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 9040504 Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta gene DOID:630 genetic disease ISO RGD:737555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040504 Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737555 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18342293 9040510 Znf157 zinc finger protein 157 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9040510 Znf157 zinc finger protein 157 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 9040510 Znf157 zinc finger protein 157 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 9040510 Znf157 zinc finger protein 157 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 9040510 Znf157 zinc finger protein 157 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1344228 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:14985377|PMID:21441247|PMID:28492532 9040510 Znf157 zinc finger protein 157 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1344228 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 9040510 Znf157 zinc finger protein 157 gene DOID:12849 autistic disorder ISO RGD:1344228 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9040510 Znf157 zinc finger protein 157 gene DOID:630 genetic disease ISO RGD:1344228 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040590 Best2 bestrophin 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1313368 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 9040590 Best2 bestrophin 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1313368 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9040590 Best2 bestrophin 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1313368 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 9040590 Best2 bestrophin 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1313368 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9040590 Best2 bestrophin 2 gene DOID:630 genetic disease ISO RGD:1313368 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040604 Trim3 tripartite motif containing 3 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:731725 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9040604 Trim3 tripartite motif containing 3 gene DOID:630 genetic disease ISO RGD:731725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040633 Pde3b phosphodiesterase 3B gene DOID:1059 intellectual disability ISO RGD:732966 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9040633 Pde3b phosphodiesterase 3B gene DOID:11612 polycystic ovary syndrome ISO RGD:732966 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9040633 Pde3b phosphodiesterase 3B gene DOID:630 genetic disease ISO RGD:732966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040653 Adcyap1r1 ADCYAP receptor type I gene DOID:1679 cystitis ISO RGD:2038 D RGD:9068941 20200609 RGD mRNA:increased expression:urothelium, detrusor muscle (rat) PMID:18563302|REF_RGD_ID:2315964 9040653 Adcyap1r1 ADCYAP receptor type I gene DOID:2841 asthma ISO RGD:736792 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21059121 9040653 Adcyap1r1 ADCYAP receptor type I gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736792 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9040653 Adcyap1r1 ADCYAP receptor type I gene DOID:630 genetic disease ISO RGD:736792 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040653 Adcyap1r1 ADCYAP receptor type I gene DOID:9004009 Reperfusion Injury ISO RGD:2038 D RGD:9068941 20200609 RGD mRNA:decreased expression:dentate gyrus (rat) PMID:19647005|REF_RGD_ID:2315956 9040677 Zfpm1 zinc finger protein, FOG family member 1 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1314245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 9040677 Zfpm1 zinc finger protein, FOG family member 1 gene DOID:0080600 COVID-19 ISO RGD:1314245 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9040677 Zfpm1 zinc finger protein, FOG family member 1 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1314245 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 9040677 Zfpm1 zinc finger protein, FOG family member 1 gene DOID:14780 KBG syndrome ISO RGD:1314245 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 9040677 Zfpm1 zinc finger protein, FOG family member 1 gene DOID:630 genetic disease ISO RGD:1314245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040677 Zfpm1 zinc finger protein, FOG family member 1 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1314245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:0050424 familial adenomatous polyposis ISO RGD:737492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:737492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:2957 pulmonary tuberculosis ISO RGD:737492 D RGD:9068941 20201225 RGD protein:increased expression:urine PMID:29636444|REF_RGD_ID:40903003 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:737492 D RGD:9068941 20210115 RGD protein:increased processing:serum PMID:23436019|REF_RGD_ID:40907060 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:70881 D RGD:9068941 20210115 RGD protein:increased expression, increased processing:serum PMID:23436019|REF_RGD_ID:40907060 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:5082 liver cirrhosis ISO RGD:737492 D RGD:9068941 20201225 RGD associated with hepatitis B;protein:increased expression:serum PMID:24836184|REF_RGD_ID:40903002 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:5844 myocardial infarction ISO RGD:737492 D RGD:9068941 20200609 RGD PMID:10486281|REF_RGD_ID:1582334 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:630 genetic disease ISO RGD:737492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:737492 D RGD:9068941 20201225 RGD associated with hepatitis B;protein:decreased expression:serum PMID:24836184|REF_RGD_ID:40903002 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:8805 intermediate coronary syndrome ISO RGD:737492 D RGD:9068941 20200609 RGD PMID:10486281|REF_RGD_ID:1582334 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9000039 Spinal Cord Injuries severity ISO RGD:70881 D RGD:9068941 20210115 RGD protein:decreased expression:cerebrospinal fluid PMID:21559420|REF_RGD_ID:40907059 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9000808 Hypercholesterolemia ISO RGD:737492 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to PMID:14661079 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9000808 Hypercholesterolemia susceptibility ISO RGD:737492 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs3821831, homozygous C allele associated with higher total and HDL cholesterol PMID:14661079|REF_RGD_ID:1627650 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:70881 D RGD:9068941 20210115 RGD protein:increased expression:serum PMID:25200834|REF_RGD_ID:10449102 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9002928 Colonic Neoplasms ISO RGD:737492 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25200834 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9003219 Invasive Pulmonary Aspergillosis ISO RGD:70881 D RGD:9068941 20201225 RGD protein:increased expression:respiratory system fluid/secretion, serum PMID:24360996|REF_RGD_ID:40903005 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9005036 Bacteremia ISO RGD:737493 D RGD:9068941 20210115 RGD protein:increased expression:liver, serum PMID:33348064|REF_RGD_ID:40907057 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9008163 Chronic Hepatitis B ISO RGD:737492 D RGD:9068941 20201225 RGD protein:increased expression:serum PMID:24836184|REF_RGD_ID:40903002 9040693 Itih4 inter-alpha-trypsin inhibitor heavy chain 4 gene DOID:9970 obesity ISO RGD:70881 D RGD:9068941 20210115 RGD PMID:22134356|REF_RGD_ID:11352709 9040769 Hyal3 hyaluronidase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 9040769 Hyal3 hyaluronidase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 9040769 Hyal3 hyaluronidase 3 gene DOID:630 genetic disease ISO RGD:1344724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040769 Hyal3 hyaluronidase 3 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1344724 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 9040769 Hyal3 hyaluronidase 3 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344724 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9040777 Nid2 nidogen 2 gene DOID:630 genetic disease ISO RGD:1323271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040777 Nid2 nidogen 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9040801 LOC102030314 histone H2B type 1-A gene DOID:630 genetic disease ISO RGD:1352004 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040810 Cdin1 CDAN1 interacting nuclease 1 gene DOID:0111397 congenital dyserythropoietic anemia type Ib ISO RGD:1607000 D RGD:7240710 20191009 OMIM 9040810 Cdin1 CDAN1 interacting nuclease 1 gene DOID:0111397 congenital dyserythropoietic anemia type Ib ISO RGD:1607000 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | ClinVar Annotator: match by term: CDA, TYPE Ib PMID:16643456|PMID:23716552|PMID:25741868|PMID:28492532|PMID:29885034|PMID:31191338|PMID:9220189 9040810 Cdin1 CDAN1 interacting nuclease 1 gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:1607000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9040810 Cdin1 CDAN1 interacting nuclease 1 gene DOID:2717 Bloom syndrome ISO RGD:1607000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9040810 Cdin1 CDAN1 interacting nuclease 1 gene DOID:9256 colorectal cancer ISO RGD:1607000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9040841 Nkx2-3 NK2 homeobox 3 gene DOID:630 genetic disease ISO RGD:1318340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040841 Nkx2-3 NK2 homeobox 3 gene DOID:8577 ulcerative colitis ISO RGD:1318340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405|PMID:18438406|PMID:20228799 9040841 Nkx2-3 NK2 homeobox 3 gene DOID:8778 Crohn's disease ISO RGD:1318340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17554261|PMID:18438405|PMID:18438406 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0050535 exudative vitreoretinopathy ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:11719191|PMID:15024691|PMID:16199547|PMID:16252235|PMID:25711638|PMID:28041643|PMID:28492532|PMID:29181528|PMID:31299183|PMID:8832721 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0050770 polycystic liver disease ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:25741868|PMID:28492532|PMID:30452590 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0060849 osteoporosis-pseudoglioma syndrome ISO RGD:1319617 D RGD:7240710 20180130 OMIM 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0060849 osteoporosis-pseudoglioma syndrome ISO RGD:1319617 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Osteoporosis with pseudoglioma | ClinVar Annotator: match by term: Pseudoglioma with bone fragility PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17505772|PMID:17576681|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18602879|PMID:18932002|PMID:19023643|PMID:19324841|PMID:20034086|PMID:21407258|PMID:21528003|PMID:22456437|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26467025|PMID:28192794|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29131652|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:30894705|PMID:31039433|PMID:33118644|PMID:33939331|PMID:34639175|PMID:34860240|PMID:35106624|PMID:9536098 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0080037 Worth syndrome ISO RGD:1319617 D RGD:7240710 20180130 OMIM 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0080037 Worth syndrome ISO RGD:1319617 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Endosteal hyperostosis, autosomal dominant | ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Osteosclerosis of the skull and enlarged mandible | ClinVar Annotator: match by term: Worth disease PMID:1002767|PMID:10434540|PMID:11701785|PMID:11719191|PMID:11883972|PMID:12015390|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:18058054|PMID:18349089|PMID:18521528|PMID:18588671|PMID:18602879|PMID:19324841|PMID:21528003|PMID:22456437|PMID:23318847|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26348019|PMID:26467025|PMID:28192794|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:31039433|PMID:33118644|PMID:33939331|PMID:34639175|PMID:34860240|PMID:35106624|PMID:9536098 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0080322 polycystic kidney disease ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease, adult type PMID:25711638|PMID:25741868|PMID:25920554|PMID:28492532|PMID:30283887 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0110858 polycystic kidney disease 1 ISO RGD:1319617 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 1 PMID:25711638|PMID:25741868|PMID:25920554|PMID:28492532|PMID:30283887 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0110937 autosomal dominant osteopetrosis 1 ISO RGD:1319617 D RGD:7240710 20180130 OMIM 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0110937 autosomal dominant osteopetrosis 1 ISO RGD:1319617 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I PMID:1002767|PMID:10434540|PMID:11701785|PMID:11719191|PMID:11741193|PMID:12015390|PMID:12054167|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:18058054|PMID:18349089|PMID:18521528|PMID:18588671|PMID:18602879|PMID:19324841|PMID:21528003|PMID:22456437|PMID:23318847|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26348019|PMID:26467025|PMID:28192794|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:31039433|PMID:33118644|PMID:33939331|PMID:34639175|PMID:34860240|PMID:35106624|PMID:9536098 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0111411 exudative vitreoretinopathy 4 ISO RGD:1319617 D RGD:7240710 20180130 OMIM 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0111411 exudative vitreoretinopathy 4 ISO RGD:1319617 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal recessive | ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic PMID:11719191|PMID:12579474|PMID:14507768|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16199547|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:17955262|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18602879|PMID:19324841|PMID:19837032|PMID:20034086|PMID:20340138|PMID:21528003|PMID:22456437|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25384351|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26244290|PMID:26467025|PMID:28041643|PMID:28192794|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:31039433|PMID:31077665|PMID:31237656|PMID:33118644|PMID:33939331|PMID:34639175|PMID:34860240|PMID:35106624|PMID:8832721|PMID:9056564|PMID:9536098|PMID:9831343 9040848 Lrp5 LDL receptor related protein 5 gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1319617 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16199547|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18602879|PMID:19324841|PMID:21528003|PMID:22456437|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26467025|PMID:28192794|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:31039433|PMID:33118644|PMID:33302760|PMID:33939331|PMID:34639175|PMID:34860240|PMID:35106624|PMID:9536098 9040848 Lrp5 LDL receptor related protein 5 gene DOID:1059 intellectual disability ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9040848 Lrp5 LDL receptor related protein 5 gene DOID:10629 microphthalmia ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:mutation:splice junction: PMID:28111184|REF_RGD_ID:12793059 9040848 Lrp5 LDL receptor related protein 5 gene DOID:10907 microcephaly ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 9040848 Lrp5 LDL receptor related protein 5 gene DOID:11476 osteoporosis ISO RGD:1319617 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15141052|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17052975|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17576681|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18602879|PMID:19324841|PMID:21528003|PMID:22456437|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26348019|PMID:26467025|PMID:28192794|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:31039433|PMID:33118644|PMID:33939331|PMID:34639175|PMID:34860240|PMID:35106624|PMID:9536098 9040848 Lrp5 LDL receptor related protein 5 gene DOID:11476 osteoporosis ISO RGD:1319617 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18602879|PMID:19324841|PMID:21528003|PMID:22456437|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26467025|PMID:28192794|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29055141|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:31039433|PMID:33118644|PMID:33939331|PMID:34639175|PMID:34860240|PMID:35106624|PMID:9536098 9040848 Lrp5 LDL receptor related protein 5 gene DOID:11476 osteoporosis treatment ISO RGD:1309329 D RGD:9068941 20200609 RGD PMID:21977807|PMID:22704852|REF_RGD_ID:12793063|REF_RGD_ID:7240519 9040848 Lrp5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319617 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:24706814|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590|PMID:30894705 9040848 Lrp5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:19324841|PMID:24706814|PMID:25711638|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30452590|PMID:30894705|PMID:33118644 9040848 Lrp5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta ISO RGD:1319617 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:11719191|PMID:11793484|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15346351|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:15981244|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18721193|PMID:18932002|PMID:19023643|PMID:19324841|PMID:24706814|PMID:25384351|PMID:25711638|PMID:25741868|PMID:26467025|PMID:28192794|PMID:28492532|PMID:28494495|PMID:30452590|PMID:30894705|PMID:33118644|PMID:34860240|PMID:35252483 9040848 Lrp5 LDL receptor related protein 5 gene DOID:12347 osteogenesis imperfecta treatment ISO RGD:1319618 D RGD:9068941 20200609 RGD PMID:24677211|REF_RGD_ID:12792279 9040848 Lrp5 LDL receptor related protein 5 gene DOID:12559 idiopathic juvenile osteoporosis ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human) PMID:22487062|REF_RGD_ID:12793058 9040848 Lrp5 LDL receptor related protein 5 gene DOID:13533 osteopetrosis ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: High bone mass PMID:11741193|PMID:12015390|PMID:25741868|PMID:28492532 9040848 Lrp5 LDL receptor related protein 5 gene DOID:14791 Leber congenital amaurosis ISO RGD:1319617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:28492532 9040848 Lrp5 LDL receptor related protein 5 gene DOID:4079 heart valve disease ISO RGD:1319617 D RGD:9068941 20200609 RGD protein:increased expression:heart valve PMID:16631011|REF_RGD_ID:12793057 9040848 Lrp5 LDL receptor related protein 5 gene DOID:4254 osteosclerosis ISO RGD:1319617 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:11719191|PMID:11741193|PMID:11793484|PMID:12015390|PMID:12579474|PMID:14727154|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16679074|PMID:17086708|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17241106|PMID:17306638|PMID:17307038|PMID:17395706|PMID:17505772|PMID:17766366|PMID:18058054|PMID:18349089|PMID:18493104|PMID:18588671|PMID:18932002|PMID:19023643|PMID:25741868|PMID:26467025|PMID:28492532 9040848 Lrp5 LDL receptor related protein 5 gene DOID:4997 Camurati-Engelmann disease ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diaphyseal dysplasia PMID:25741868 9040848 Lrp5 LDL receptor related protein 5 gene DOID:630 genetic disease ISO RGD:1319617 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11719191|PMID:15024691|PMID:15346351|PMID:16199547|PMID:16252235|PMID:21407258|PMID:25711638|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29181528|PMID:30894705|PMID:34860240|PMID:8832721|PMID:9831343 9040848 Lrp5 LDL receptor related protein 5 gene DOID:8501 fundus dystrophy ISO RGD:1319617 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11719191|PMID:16252235|PMID:25711638|PMID:25741868|PMID:27208204|PMID:28492532|PMID:30452590|PMID:30894705|PMID:34526760 9040848 Lrp5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1319617 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868|PMID:28492532 9040848 Lrp5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease susceptibility ISO RGD:1309329 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:multiple mutations (human) PMID:25920554|REF_RGD_ID:11553546 9040848 Lrp5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease susceptibility ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:multiple mutations (human) PMID:25920554|REF_RGD_ID:11553546 9040848 Lrp5 LDL receptor related protein 5 gene DOID:898 autosomal dominant polycystic kidney disease susceptibility ISO RGD:1319618 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:multiple mutations (human) PMID:25920554|REF_RGD_ID:11553546 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1309329 D RGD:9068941 20200609 RGD PMID:24090150|REF_RGD_ID:12798566 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1319617 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:24706814|PMID:25741868|PMID:28492532|PMID:30452590 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 susceptibility ISO RGD:1309329 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R118W (3562C>T) (human) PMID:24706814|REF_RGD_ID:11063140 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 susceptibility ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R118W (3562C>T) (human) PMID:24706814|REF_RGD_ID:11063140 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9001771 Polycystic Liver Disease 1 susceptibility ISO RGD:1319618 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.R118W (3562C>T) (human) PMID:24706814|REF_RGD_ID:11063140 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9002278 Metabolic Bone Diseases treatment ISO RGD:1319618 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.A214V,p.G171V(mouse) PMID:26554834|REF_RGD_ID:11343819 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9002589 Bone Fractures ISO RGD:1319617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9003049 Femur Head Necrosis treatment ISO RGD:1309329 D RGD:9068941 20200609 RGD PMID:24510055|REF_RGD_ID:12793062 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1319617 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9004914 Postmenopausal Osteoporosis ISO RGD:1319617 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Postmenopausal osteoporosis PMID:24715757|PMID:25741868|PMID:28492532 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9005882 Spine Osteoarthritis susceptibility ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.Q89R(human) PMID:17202888|REF_RGD_ID:12792278 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1319617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9009127 Polycystic Liver Disease 4 with or without Kidney Cysts ISO RGD:1319617 D RGD:7240710 20190315 OMIM 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9009127 Polycystic Liver Disease 4 with or without Kidney Cysts ISO RGD:1319617 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS | ClinVar Annotator: match by term: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS | ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts PMID:11719191|PMID:12579474|PMID:15024691|PMID:15077203|PMID:15201508|PMID:15619672|PMID:15767861|PMID:15777745|PMID:15824851|PMID:15824861|PMID:15850991|PMID:16234968|PMID:16252235|PMID:16679074|PMID:17137849|PMID:17202888|PMID:17223614|PMID:17306638|PMID:17307038|PMID:17576681|PMID:18058054|PMID:18349089|PMID:18588671|PMID:18602879|PMID:19324841|PMID:21528003|PMID:22456437|PMID:23441120|PMID:24423337|PMID:24706814|PMID:24715757|PMID:25711638|PMID:25741868|PMID:25920554|PMID:26467025|PMID:28192794|PMID:28378289|PMID:28420620|PMID:28492532|PMID:28494495|PMID:29168297|PMID:29181528|PMID:30283887|PMID:30452590|PMID:31039433|PMID:33118644|PMID:33939331|PMID:34639175|PMID:34860240|PMID:35106624|PMID:9536098 9040848 Lrp5 LDL receptor related protein 5 gene DOID:971 tendinitis ISO RGD:1309329 D RGD:9068941 20200609 RGD protein:increased expression:patellar tendon: PMID:23776285|REF_RGD_ID:12793064 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1319617 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18263894 9040848 Lrp5 LDL receptor related protein 5 gene DOID:9719 neovascular inflammatory vitreoretinopathy ISO RGD:1319617 D RGD:9068941 20200609 RGD DNA:mutations: :p.R570Q, p.R752G, p.E1367K (human) PMID:15346351|REF_RGD_ID:1599835 9040876 Whamm WASP homolog associated with actin, golgi membranes and microtubules gene DOID:13938 amenorrhea ISO RGD:1606472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9040876 Whamm WASP homolog associated with actin, golgi membranes and microtubules gene DOID:2717 Bloom syndrome ISO RGD:1606472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9040876 Whamm WASP homolog associated with actin, golgi membranes and microtubules gene DOID:5426 primary ovarian insufficiency ISO RGD:1606472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9040876 Whamm WASP homolog associated with actin, golgi membranes and microtubules gene DOID:630 genetic disease ISO RGD:1606472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040876 Whamm WASP homolog associated with actin, golgi membranes and microtubules gene DOID:9256 colorectal cancer ISO RGD:1606472 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9040908 Socs6 suppressor of cytokine signaling 6 gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1312180 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 9040908 Socs6 suppressor of cytokine signaling 6 gene DOID:630 genetic disease ISO RGD:1312180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040908 Socs6 suppressor of cytokine signaling 6 gene DOID:6420 pulmonary valve stenosis ISO RGD:1312180 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pulmonary valve stenosis PMID:25741868 9040908 Socs6 suppressor of cytokine signaling 6 gene DOID:8445 intestinal volvulus ISO RGD:1312180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 9040908 Socs6 suppressor of cytokine signaling 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9040908 Socs6 suppressor of cytokine signaling 6 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1312180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 9040917 Pus7l pseudouridine synthase 7 like gene DOID:630 genetic disease ISO RGD:1606495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040954 Zbtb40 zinc finger and BTB domain containing 40 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1604838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 9040954 Zbtb40 zinc finger and BTB domain containing 40 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1604838 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 9040954 Zbtb40 zinc finger and BTB domain containing 40 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1604838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 9040954 Zbtb40 zinc finger and BTB domain containing 40 gene DOID:1059 intellectual disability ISO RGD:1604838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 9040954 Zbtb40 zinc finger and BTB domain containing 40 gene DOID:630 genetic disease ISO RGD:1604838 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9040954 Zbtb40 zinc finger and BTB domain containing 40 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1604838 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9040989 CUNH2orf42 chromosome unknown C2orf42 homolog gene DOID:630 genetic disease ISO RGD:1603029 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041015 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:14789 spondyloepiphyseal dysplasia congenita ISO RGD:737597 D RGD:9068941 20220825 MouseDO OMIM:183900 9041015 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:630 genetic disease ISO RGD:1346855 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041015 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17568789 9041015 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346855 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9041015 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9988279 9041015 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:9007661 Dwarfism ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9988279 9041015 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:9007661 Dwarfism ISO RGD:737597 D RGD:9068941 20200609 RGD PMID:9988279|REF_RGD_ID:734826 9041015 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21278247 9041015 Hapln1 hyaluronan and proteoglycan link protein 1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1346855 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9988279 9041029 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:0080129 mitochondrial DNA depletion syndrome 11 ISO RGD:1316675 D RGD:7240710 20180130 OMIM 9041029 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:0080129 mitochondrial DNA depletion syndrome 11 ISO RGD:1316675 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11 PMID:23313956|PMID:25741868|PMID:28097321|PMID:28492532|PMID:28711739 9041029 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:0080600 COVID-19 ISO RGD:1316675 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9041029 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:11162 respiratory failure ISO RGD:1316675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 9041029 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:539 ophthalmoplegia ISO RGD:1316675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 9041029 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:630 genetic disease ISO RGD:1316675 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9041029 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:700 mitochondrial metabolism disease ISO RGD:1316675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 9041029 Mgme1 mitochondrial genome maintenance exonuclease 1 gene DOID:9000498 Emaciation ISO RGD:1316675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23313956 9041051 Rnf133 ring finger protein 133 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350521 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9041051 Rnf133 ring finger protein 133 gene DOID:630 genetic disease ISO RGD:1350521 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041059 Kcnj1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:0110143 Bartter disease type 2 ISO RGD:732016 D RGD:7240710 20180130 OMIM 9041059 Kcnj1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:0110143 Bartter disease type 2 ISO RGD:732016 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bartter disease type 2 PMID:10049979|PMID:10611379|PMID:10878442|PMID:11318951|PMID:12589089|PMID:12911542|PMID:18391953|PMID:19096086|PMID:19602640|PMID:20699659|PMID:20926634|PMID:22245519|PMID:24400161|PMID:24659592|PMID:24696311|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28630040|PMID:29942493|PMID:31441846|PMID:31731488|PMID:32251469|PMID:32573669|PMID:32590952|PMID:32939031|PMID:32997650|PMID:34345425|PMID:34663630|PMID:34751387|PMID:35006361|PMID:8841184|PMID:9002665|PMID:9015377|PMID:9502574|PMID:9580661|PMID:9727001 9041059 Kcnj1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:0111723 Jacobsen Syndrome ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 9041059 Kcnj1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:10283 prostate cancer ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9041059 Kcnj1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:10763 hypertension ISO RGD:732016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 9041059 Kcnj1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:1184 nephrotic syndrome ISO RGD:2957 D RGD:9068941 20200609 RGD PMID:21606114|REF_RGD_ID:7244390 9041059 Kcnj1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:1826 epilepsy ISO RGD:732016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:10611379|PMID:12086641|PMID:28492532|PMID:31672324|PMID:32185747 9041059 Kcnj1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:445 Bartter disease ISO RGD:732016 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome PMID:10611379|PMID:10878442|PMID:12081585|PMID:12911542|PMID:16982955|PMID:18391953|PMID:19096086|PMID:21865213|PMID:23782368|PMID:24400161|PMID:24659592|PMID:24696311|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29942493|PMID:31441846|PMID:31731488|PMID:32251469|PMID:32573669|PMID:32939031|PMID:32997650|PMID:33058840|PMID:34663630|PMID:34751387|PMID:35006361|PMID:35463019|PMID:9015377|PMID:9502574|PMID:9587066 9041059 Kcnj1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:5419 schizophrenia ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9041059 Kcnj1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:630 genetic disease ISO RGD:732016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18391953|PMID:19096086|PMID:25741868|PMID:26467025|PMID:28492532 9041059 Kcnj1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9041059 Kcnj1 potassium inwardly rectifying channel subfamily J member 1 gene DOID:9007661 Dwarfism ISO RGD:732016 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9041084 Atxn10 ataxin 10 gene DOID:0050960 spinocerebellar ataxia type 10 ISO RGD:1351525 D RGD:7240710 20180130 OMIM 9041084 Atxn10 ataxin 10 gene DOID:0050960 spinocerebellar ataxia type 10 ISO RGD:1351525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 10 PMID:25741868 9041084 Atxn10 ataxin 10 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1351525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9041084 Atxn10 ataxin 10 gene DOID:1059 intellectual disability ISO RGD:1351525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9041084 Atxn10 ataxin 10 gene DOID:630 genetic disease ISO RGD:1351525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041084 Atxn10 ataxin 10 gene DOID:9002121 Spinocerebellar Ataxias susceptibility ISO RGD:1351525 D RGD:9068941 20200609 RGD DNA:repeat:intron 9 PMID:11017075|REF_RGD_ID:1599410 9041152 Crls1 cardiolipin synthase 1 gene DOID:0070430 combined oxidative phosphorylation deficiency 57 ISO RGD:1322279 D RGD:7240710 20230125 OMIM 9041152 Crls1 cardiolipin synthase 1 gene DOID:0070430 combined oxidative phosphorylation deficiency 57 ISO RGD:1322279 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 57 PMID:35147173 9041152 Crls1 cardiolipin synthase 1 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:1322279 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 9041152 Crls1 cardiolipin synthase 1 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:1322279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 9041152 Crls1 cardiolipin synthase 1 gene DOID:630 genetic disease ISO RGD:1322279 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041182 Scfd1 sec1 family domain containing 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1350281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 9041182 Scfd1 sec1 family domain containing 1 gene DOID:630 genetic disease ISO RGD:1350281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041182 Scfd1 sec1 family domain containing 1 gene DOID:9004009 Reperfusion Injury ISO RGD:619828 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:9195952|REF_RGD_ID:633771 9041182 Scfd1 sec1 family domain containing 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1350281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9041222 Wsb1 WD repeat and SOCS box containing 1 gene DOID:630 genetic disease ISO RGD:1317261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041247 Camkk1 calcium/calmodulin dependent protein kinase kinase 1 gene DOID:3613 Canavan disease ISO RGD:1349409 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:19932039|PMID:28492532 9041247 Camkk1 calcium/calmodulin dependent protein kinase kinase 1 gene DOID:630 genetic disease ISO RGD:1349409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041247 Camkk1 calcium/calmodulin dependent protein kinase kinase 1 gene DOID:863 nervous system disease ISO RGD:1349409 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 9041267 Tfr2 transferrin receptor 2 gene DOID:0111029 hemochromatosis type 1 ISO RGD:1320887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of PMID:12150153|PMID:16424658|PMID:20301523|PMID:22890139|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:28492532 9041267 Tfr2 transferrin receptor 2 gene DOID:0111030 hemochromatosis type 3 ISO RGD:1320887 D RGD:7240710 20180130 OMIM 9041267 Tfr2 transferrin receptor 2 gene DOID:0111030 hemochromatosis type 3 ISO RGD:1320887 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 PMID:10802645|PMID:11102989|PMID:11313241|PMID:11358389|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:15749661|PMID:16199547|PMID:16424658|PMID:16838333|PMID:16923517|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18450729|PMID:18762941|PMID:20301523|PMID:21524769|PMID:21770687|PMID:22890139|PMID:22981443|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:26183747|PMID:26408288|PMID:27667161|PMID:27896572|PMID:28276324|PMID:28492532|PMID:34946929|PMID:9536098 9041267 Tfr2 transferrin receptor 2 gene DOID:0111031 hemochromatosis type 5 ISO RGD:1320887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 PMID:28492532 9041267 Tfr2 transferrin receptor 2 gene DOID:12241 beta thalassemia ISO RGD:1320887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16755567 9041267 Tfr2 transferrin receptor 2 gene DOID:12241 beta thalassemia ISO RGD:1320888 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver: PMID:16755567|REF_RGD_ID:11062138 9041267 Tfr2 transferrin receptor 2 gene DOID:2352 hemochromatosis ISO RGD:1320887 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:11313241|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:16199547|PMID:16424658|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18762941|PMID:20301523|PMID:21770687|PMID:21901660|PMID:22890139|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:27667161|PMID:28276324|PMID:28492532|PMID:9536098 9041267 Tfr2 transferrin receptor 2 gene DOID:2352 hemochromatosis ISO RGD:1320887 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:11102989|PMID:11313241|PMID:11358389|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:16199547|PMID:16424658|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18450729|PMID:18762941|PMID:20301523|PMID:21770687|PMID:22890139|PMID:22981443|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:26183747|PMID:26408288|PMID:27667161|PMID:27896572|PMID:28276324|PMID:28492532|PMID:35462491|PMID:9536098 9041267 Tfr2 transferrin receptor 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9041267 Tfr2 transferrin receptor 2 gene DOID:630 genetic disease ISO RGD:1320887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9041267 Tfr2 transferrin receptor 2 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:1320887 D RGD:9068941 20200609 RGD PMID:15015967|REF_RGD_ID:11062090 9041298 S1pr3 sphingosine-1-phosphate receptor 3 gene DOID:630 genetic disease ISO RGD:1352881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041304 R3hdm4 R3H domain containing 4 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1316037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 9041304 R3hdm4 R3H domain containing 4 gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1316037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 9041304 R3hdm4 R3H domain containing 4 gene DOID:5339 cyclic hematopoiesis ISO RGD:1316037 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 9041304 R3hdm4 R3H domain containing 4 gene DOID:630 genetic disease ISO RGD:1316037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041321 Rps3a ribosomal protein S3A gene DOID:630 genetic disease ISO RGD:1348881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041332 Tbc1d10c TBC1 domain family member 10C gene DOID:1059 intellectual disability ISO RGD:1606878 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9041332 Tbc1d10c TBC1 domain family member 10C gene DOID:630 genetic disease ISO RGD:1606878 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041332 Tbc1d10c TBC1 domain family member 10C gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1606878 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9041332 Tbc1d10c TBC1 domain family member 10C gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1606878 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 9041354 Dsc3 desmocollin 3 gene DOID:1059 intellectual disability ISO RGD:1323416 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9041354 Dsc3 desmocollin 3 gene DOID:630 genetic disease ISO RGD:1323416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041354 Dsc3 desmocollin 3 gene DOID:9000225 Hypotrichosis and Recurrent Skin Vesicles ISO RGD:1323416 D RGD:7240710 20180130 OMIM 9041354 Dsc3 desmocollin 3 gene DOID:9000225 Hypotrichosis and Recurrent Skin Vesicles ISO RGD:1323416 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles PMID:19765682|PMID:25741868|PMID:31790667 9041354 Dsc3 desmocollin 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1323416 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799634 9041374 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:3082 interstitial lung disease ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial pneumonitis PMID:29979980 9041374 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:5082 liver cirrhosis ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Liver cirrhosis PMID:29979980 9041374 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:630 genetic disease ISO RGD:1348852 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9041374 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9001665 Aneurysm ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aneurysm PMID:29979980 9041374 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9001942 Rajab Interstitial Lung Disease with Brain Calcifications ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications PMID:19161147|PMID:25741868|PMID:29573043|PMID:29979980|PMID:30014610 9041374 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:29573043 9041374 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9041374 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9006686 Rajab Interstitial Lung Disease with Brain Calcifications 1 ISO RGD:1348852 D RGD:7240710 20190315 OMIM 9041374 Farsb phenylalanyl-tRNA synthetase subunit beta gene DOID:9006686 Rajab Interstitial Lung Disease with Brain Calcifications 1 ISO RGD:1348852 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 PMID:25741868|PMID:28492532|PMID:29979980 9041406 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1312089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9041406 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1312089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9041406 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1312089 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9041406 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:13938 amenorrhea ISO RGD:1312089 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9041406 Mast2 microtubule associated serine/threonine kinase 2 gene DOID:630 genetic disease ISO RGD:1312089 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041456 Rab23 RAB23, member RAS oncogene family gene DOID:0060234 Carpenter syndrome ISO RGD:1315728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome PMID:16199547|PMID:17503333|PMID:17576681|PMID:20358613|PMID:21412941|PMID:23599695|PMID:24458945|PMID:25168863|PMID:25741868|PMID:28492532|PMID:9536098 9041456 Rab23 RAB23, member RAS oncogene family gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1315728 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868 9041456 Rab23 RAB23, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1315728 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17503333|PMID:17576681|PMID:21412941|PMID:24458945|PMID:25741868|PMID:28492532|PMID:9536098 9041456 Rab23 RAB23, member RAS oncogene family gene DOID:9005101 Carpenter Syndrome 1 ISO RGD:1315728 D RGD:7240710 20180130 OMIM 9041456 Rab23 RAB23, member RAS oncogene family gene DOID:9005101 Carpenter Syndrome 1 ISO RGD:1315728 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition PMID:17503333|PMID:20358613|PMID:21412941|PMID:23599695|PMID:24458945|PMID:25741868|PMID:28492532 9041456 Rab23 RAB23, member RAS oncogene family gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315728 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 9041470 Mbnl3 muscleblind like splicing regulator 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1603984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9041470 Mbnl3 muscleblind like splicing regulator 3 gene DOID:12849 autistic disorder ISO RGD:1603984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9041470 Mbnl3 muscleblind like splicing regulator 3 gene DOID:630 genetic disease ISO RGD:1603984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041492 Znf786 zinc finger protein 786 gene DOID:630 genetic disease ISO RGD:1604748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041515 Cpne7 copine 7 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 9041515 Cpne7 copine 7 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316677 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 9041515 Cpne7 copine 7 gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1316677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 9041515 Cpne7 copine 7 gene DOID:13636 Fanconi anemia ISO RGD:1316677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 9041515 Cpne7 copine 7 gene DOID:14780 KBG syndrome ISO RGD:1316677 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 9041515 Cpne7 copine 7 gene DOID:630 genetic disease ISO RGD:1316677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041515 Cpne7 copine 7 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1316677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 9041535 Rnf130 ring finger protein 130 gene DOID:630 genetic disease ISO RGD:1343865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041535 Rnf130 ring finger protein 130 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343865 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9041558 Gjc3 gap junction protein gamma 3 gene DOID:10003 sensorineural hearing loss ISO RGD:1553447 D RGD:9068941 20200609 RGD PMID:16481432|REF_RGD_ID:1578421 9041558 Gjc3 gap junction protein gamma 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1353703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9041558 Gjc3 gap junction protein gamma 3 gene DOID:630 genetic disease ISO RGD:1353703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041565 Cmip c-Maf inducing protein gene DOID:10485 esophageal atresia ISO RGD:1603294 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 9041565 Cmip c-Maf inducing protein gene DOID:630 genetic disease ISO RGD:1603294 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041565 Cmip c-Maf inducing protein gene DOID:9352 type 2 diabetes mellitus ISO RGD:1603294 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 9041603 Fam83f family with sequence similarity 83 member F gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1602306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9041603 Fam83f family with sequence similarity 83 member F gene DOID:14228 oligospermia ISO RGD:1602306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Oligozoospermia PMID:25741868 9041603 Fam83f family with sequence similarity 83 member F gene DOID:630 genetic disease ISO RGD:1602306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9041603 Fam83f family with sequence similarity 83 member F gene DOID:9002321 Teratozoospermia ISO RGD:1602306 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Teratozoospermia PMID:25741868 9041612 Ankrd45 ankyrin repeat domain 45 gene DOID:1540 parathyroid carcinoma ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9041612 Ankrd45 ankyrin repeat domain 45 gene DOID:3755 antithrombin III deficiency ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 9041612 Ankrd45 ankyrin repeat domain 45 gene DOID:630 genetic disease ISO RGD:1606657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041612 Ankrd45 ankyrin repeat domain 45 gene DOID:6688 autoimmune lymphoproliferative syndrome ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT PMID:22857792|PMID:25451160|PMID:28492532 9041612 Ankrd45 ankyrin repeat domain 45 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 9041612 Ankrd45 ankyrin repeat domain 45 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606657 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9041622 Taf2 TATA-box binding protein associated factor 2 gene DOID:0081205 autosomal recessive intellectual developmental disorder 40 ISO RGD:1353856 D RGD:7240710 20180130 OMIM 9041622 Taf2 TATA-box binding protein associated factor 2 gene DOID:0081205 autosomal recessive intellectual developmental disorder 40 ISO RGD:1353856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 40 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY PMID:18414213|PMID:21937992|PMID:22633631|PMID:24084144|PMID:25741868|PMID:26757139|PMID:28492532|PMID:34474177 9041622 Taf2 TATA-box binding protein associated factor 2 gene DOID:1059 intellectual disability ISO RGD:1353856 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 9041622 Taf2 TATA-box binding protein associated factor 2 gene DOID:10907 microcephaly ISO RGD:1353856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9041622 Taf2 TATA-box binding protein associated factor 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1353856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 9041622 Taf2 TATA-box binding protein associated factor 2 gene DOID:206 hereditary multiple exostoses ISO RGD:1353856 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 9041622 Taf2 TATA-box binding protein associated factor 2 gene DOID:630 genetic disease ISO RGD:1353856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9041653 Si sucrase-isomaltase gene DOID:0060180 colitis ISO RGD:3675 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:ileum PMID:16964428|REF_RGD_ID:1625545 9041653 Si sucrase-isomaltase gene DOID:0111633 congenital sucrase-isomaltase deficiency ISO RGD:1352166 D RGD:7240710 20180130 OMIM 9041653 Si sucrase-isomaltase gene DOID:0111633 congenital sucrase-isomaltase deficiency ISO RGD:1352166 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SI-related condition | ClinVar Annotator: match by term: Sucrase-isomaltase deficiency PMID:12624106|PMID:15944403|PMID:16199547|PMID:16329100|PMID:17576681|PMID:19121318|PMID:19680155|PMID:23103650|PMID:24033266|PMID:25452324|PMID:25741868|PMID:26812950|PMID:27579322|PMID:27749612|PMID:27872184|PMID:28062276|PMID:28492532|PMID:29408290|PMID:30658996|PMID:31331993|PMID:31557950|PMID:32732636|PMID:34926337|PMID:35753512|PMID:36007526|PMID:8609217|PMID:9092938|PMID:9536098 9041653 Si sucrase-isomaltase gene DOID:10283 prostate cancer ISO RGD:1352166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9041653 Si sucrase-isomaltase gene DOID:630 genetic disease ISO RGD:1352166 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16329100|PMID:19121318|PMID:23103650|PMID:24033266|PMID:25452324|PMID:25741868|PMID:27579322|PMID:27872184|PMID:28062276|PMID:28492532|PMID:29408290|PMID:36007526 9041653 Si sucrase-isomaltase gene DOID:9004009 Reperfusion Injury ISO RGD:3675 D RGD:9068941 20200609 RGD PMID:9724271|REF_RGD_ID:1625550 9041653 Si sucrase-isomaltase gene DOID:9005587 Starvation ISO RGD:3675 D RGD:9068941 20200609 RGD PMID:10864000|REF_RGD_ID:1625548 9041653 Si sucrase-isomaltase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3675 D RGD:9068941 20200609 RGD protein:increased expression:small intestine mucosa PMID:12940455|REF_RGD_ID:1625543 9041653 Si sucrase-isomaltase gene DOID:9007692 Insulin Resistance ISO RGD:3675 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;mRNA:increased expression:small intestine PMID:9878708|REF_RGD_ID:1625544 9041720 Esrra estrogen related receptor alpha gene DOID:0014667 disease of metabolism ISO RGD:730826 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16515477 9041720 Esrra estrogen related receptor alpha gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:730826 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9041720 Esrra estrogen related receptor alpha gene DOID:1059 intellectual disability ISO RGD:730826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9041720 Esrra estrogen related receptor alpha gene DOID:11476 osteoporosis ISO RGD:730827 D RGD:9068941 20200609 RGD PMID:19936213|REF_RGD_ID:10401868 9041720 Esrra estrogen related receptor alpha gene DOID:3070 high grade glioma ISO RGD:730826 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9041720 Esrra estrogen related receptor alpha gene DOID:332 amyotrophic lateral sclerosis ISO RGD:730826 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:22975021 9041720 Esrra estrogen related receptor alpha gene DOID:3347 osteosarcoma ISO RGD:730826 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:24967384|PMID:34524571 9041720 Esrra estrogen related receptor alpha gene DOID:6000 congestive heart failure ISO RGD:730826 D RGD:9068941 20200609 RGD protein:decreased expression:heart: PMID:21825219|REF_RGD_ID:10401867 9041720 Esrra estrogen related receptor alpha gene DOID:630 genetic disease ISO RGD:730826 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041720 Esrra estrogen related receptor alpha gene DOID:9000918 Disease Progression ISO RGD:730826 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 9041720 Esrra estrogen related receptor alpha gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:730827 D RGD:9068941 20200609 RGD PMID:21825219|REF_RGD_ID:10401867 9041720 Esrra estrogen related receptor alpha gene DOID:9002170 Experimental Neoplasms ISO RGD:730826 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34524571 9041720 Esrra estrogen related receptor alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23090186 9041720 Esrra estrogen related receptor alpha gene DOID:9008939 Breast Neoplasms ISO RGD:730826 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961995 9041720 Esrra estrogen related receptor alpha gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:730826 D RGD:9068941 20200609 RGD PMID:16755280|REF_RGD_ID:1625637 9041720 Esrra estrogen related receptor alpha gene DOID:9970 obesity no_association ISO RGD:730826 D RGD:9068941 20200609 RGD PMID:16755280|REF_RGD_ID:1625637 9041746 Map3k13 mitogen-activated protein kinase kinase kinase 13 gene DOID:0080375 gastroesophageal adenocarcinoma ISO RGD:1351586 D RGD:9068941 20220224 RGD PMID:33334899|REF_RGD_ID:151356972 9041746 Map3k13 mitogen-activated protein kinase kinase kinase 13 gene DOID:0111546 Currarino syndrome ISO RGD:1351586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 9041746 Map3k13 mitogen-activated protein kinase kinase kinase 13 gene DOID:630 genetic disease ISO RGD:1351586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041775 Thrb thyroid hormone receptor beta gene DOID:0060224 atrial fibrillation ISO RGD:734423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 9041775 Thrb thyroid hormone receptor beta gene DOID:0111374 selective pituitary thyroid hormone resistance ISO RGD:734423 D RGD:7240710 20180130 OMIM 9041775 Thrb thyroid hormone receptor beta gene DOID:0111374 selective pituitary thyroid hormone resistance ISO RGD:734423 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Selective pituitary resistance to thyroid hormone PMID:10022392|PMID:11518118|PMID:1159077|PMID:12554782|PMID:1358935|PMID:1400873|PMID:15802373|PMID:16464943|PMID:16804041|PMID:20237409|PMID:21703645|PMID:21795843|PMID:21871106|PMID:22551329|PMID:24174637|PMID:25040256|PMID:25502991|PMID:25741868|PMID:26041374|PMID:26467025|PMID:28492532|PMID:30148208|PMID:30430796|PMID:31341516|PMID:32635414|PMID:33353459|PMID:34382419|PMID:7593433|PMID:7838159|PMID:8013151|PMID:8040303|PMID:8200958|PMID:8381821|PMID:8384535|PMID:8496318|PMID:8514853|PMID:8563471|PMID:8674808|PMID:8889584|PMID:8958790|PMID:9086567|PMID:9140079|PMID:9141558 9041775 Thrb thyroid hormone receptor beta gene DOID:10283 prostate cancer ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:18336598|REF_RGD_ID:2315095 9041775 Thrb thyroid hormone receptor beta gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:737557 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 9041775 Thrb thyroid hormone receptor beta gene DOID:11633 thyroid hormone resistance syndrome ISO RGD:734423 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Generalized resistance to thyroid hormone | ClinVar Annotator: match by term: THRB-related condition | ClinVar Annotator: match by term: Thyroid hormone resistance syndrome PMID:12356724|PMID:1324420|PMID:1400869|PMID:1548332|PMID:1661299|PMID:19268523|PMID:19378427|PMID:20237409|PMID:20808683|PMID:21871106|PMID:22947347|PMID:24393243|PMID:25040256|PMID:25135573|PMID:2555064|PMID:25741868|PMID:26273722|PMID:26467025|PMID:28235578|PMID:30430796|PMID:30497070|PMID:30976996|PMID:32581500|PMID:8013151|PMID:8040303|PMID:8828460|PMID:8956060|PMID:9092799|PMID:9804773 9041775 Thrb thyroid hormone receptor beta gene DOID:11633 thyroid hormone resistance syndrome susceptibility ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.I276L (human) PMID:15913586|REF_RGD_ID:1601659 9041775 Thrb thyroid hormone receptor beta gene DOID:1612 breast cancer ISO RGD:3858 D RGD:9068941 20200609 RGD PMID:20082849|REF_RGD_ID:2315977 9041775 Thrb thyroid hormone receptor beta gene DOID:1612 breast cancer ISO RGD:734423 D RGD:9068941 20200609 RGD PMID:12082618|REF_RGD_ID:2315096 9041775 Thrb thyroid hormone receptor beta gene DOID:3459 breast carcinoma ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:2573734|REF_RGD_ID:2315100 9041775 Thrb thyroid hormone receptor beta gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:734423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27440272 9041775 Thrb thyroid hormone receptor beta gene DOID:3962 thyroid gland follicular carcinoma ISO RGD:737557 D RGD:9068941 20220825 MouseDO OMIM:188470 9041775 Thrb thyroid hormone receptor beta gene DOID:4448 macular degeneration ISO RGD:734423 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:25741868 9041775 Thrb thyroid hormone receptor beta gene DOID:4450 renal cell carcinoma ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:mutations (human) PMID:11756220|REF_RGD_ID:2315097 9041775 Thrb thyroid hormone receptor beta gene DOID:630 genetic disease ISO RGD:734423 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10918302|PMID:1314846|PMID:16053391|PMID:23926384|PMID:25040256|PMID:26467025|PMID:30526530|PMID:32733382|PMID:34727089|PMID:7838159|PMID:8040303|PMID:8514853 9041775 Thrb thyroid hormone receptor beta gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:11483913|REF_RGD_ID:2315099 9041775 Thrb thyroid hormone receptor beta gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:734423 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:9462708|REF_RGD_ID:2289906 9041775 Thrb thyroid hormone receptor beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734423 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:12356724|PMID:20237409|PMID:25040256|PMID:25135573|PMID:25741868|PMID:26467025|PMID:32581500|PMID:8040303|PMID:9092799 9041775 Thrb thyroid hormone receptor beta gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3858 D RGD:9068941 20200609 RGD associated with Myocardial Infarction;protein:decreased expression:heart PMID:17389455|REF_RGD_ID:2314321 9041775 Thrb thyroid hormone receptor beta gene DOID:9006576 Generalized Thyroid Hormone Resistance, Autosomal Recessive ISO RGD:734423 D RGD:7240710 20180130 OMIM 9041775 Thrb thyroid hormone receptor beta gene DOID:9006576 Generalized Thyroid Hormone Resistance, Autosomal Recessive ISO RGD:734423 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal recessive PMID:1653889|PMID:1682340|PMID:19268523|PMID:1991834|PMID:22319036|PMID:24393243|PMID:25135573|PMID:25741868|PMID:26467025|PMID:4163616|PMID:8013151|PMID:8956060 9041775 Thrb thyroid hormone receptor beta gene DOID:9007743 Generalized Thyroid Hormone Resistance, Autosomal Dominant ISO RGD:734423 D RGD:7240710 20180130 OMIM 9041775 Thrb thyroid hormone receptor beta gene DOID:9007743 Generalized Thyroid Hormone Resistance, Autosomal Dominant ISO RGD:734423 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant PMID:10350052|PMID:10487671|PMID:10710882|PMID:10847591|PMID:10852467|PMID:10918302|PMID:11152480|PMID:11167935|PMID:11518118|PMID:1159077|PMID:11701667|PMID:11704998|PMID:11734632|PMID:12201835|PMID:12356724|PMID:12554782|PMID:1314846|PMID:1324420|PMID:1358935|PMID:1400869|PMID:1400873|PMID:15598685|PMID:1563081|PMID:15771554|PMID:15802373|PMID:15815068|PMID:1587388|PMID:16053391|PMID:16099238|PMID:1619012|PMID:1653889|PMID:1661299|PMID:1677564|PMID:16804041|PMID:1682340|PMID:17610520|PMID:18363280|PMID:1846005|PMID:18844476|PMID:19227423|PMID:19268523|PMID:19378427|PMID:19439650|PMID:1973914|PMID:1991834|PMID:20050372|PMID:20237409|PMID:20940675|PMID:21340159|PMID:2153155|PMID:21622532|PMID:21703645|PMID:21760978|PMID:21795843|PMID:21870171|PMID:21871106|PMID:22319036|PMID:22551329|PMID:22947347|PMID:23457315|PMID:23633200|PMID:23926384|PMID:24174637|PMID:24393243|PMID:24722129|PMID:25040256|PMID:25063548|PMID:2510172|PMID:25135573|PMID:25502991|PMID:2555064|PMID:25738994|PMID:25741868|PMID:25867808|PMID:25905418|PMID:26041374|PMID:26273722|PMID:26425626|PMID:26467025|PMID:27168936|PMID:27537566|PMID:27743306|PMID:27980311|PMID:28235578|PMID:28257829|PMID:28492532|PMID:2879243|PMID:28938413|PMID:29262478|PMID:30148208|PMID:30430796|PMID:30497070|PMID:30672388|PMID:30707410|PMID:30976996|PMID:31341516|PMID:32581500|PMID:32635414|PMID:33353459|PMID:33768782|PMID:34382419|PMID:35253369|PMID:3571851|PMID:35850606|PMID:7200565|PMID:7528740|PMID:7593433|PMID:7616549|PMID:7833659|PMID:7838159|PMID:8013151|PMID:8040303|PMID:8175986|PMID:8200958|PMID:8264663|PMID:8319599|PMID:8381821|PMID:8384535|PMID:8496318|PMID:8514853|PMID:8535442|PMID:8563471|PMID:8664910|PMID:8670802|PMID:8674808|PMID:8786093|PMID:8828460|PMID:8875752|PMID:8889584|PMID:8956060|PMID:8958790|PMID:9001191|PMID:9086567|PMID:9086569|PMID:9092799|PMID:9100577|PMID:9140079|PMID:9141558|PMID:9315673|PMID:9459636|PMID:9605924|PMID:9707435|PMID:9804773 9041775 Thrb thyroid hormone receptor beta gene DOID:9008731 Craniofacial Abnormalities ISO RGD:734423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10660344 9041775 Thrb thyroid hormone receptor beta gene DOID:9009073 Diaphragmatic Hernia ISO RGD:734423 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11685700 9041808 Eogt EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:0060227 Adams-Oliver syndrome ISO RGD:1602633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome PMID:23522784|PMID:25558065|PMID:25741868 9041808 Eogt EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:630 genetic disease ISO RGD:1602633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9041808 Eogt EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:9002329 Adams-Oliver Syndrome 4 ISO RGD:1602633 D RGD:7240710 20180130 OMIM 9041808 Eogt EGF domain specific O-linked N-acetylglucosamine transferase gene DOID:9002329 Adams-Oliver Syndrome 4 ISO RGD:1602633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 4 PMID:16199547|PMID:17576681|PMID:23522784|PMID:23860037|PMID:25488668|PMID:25558065|PMID:25741868|PMID:28492532|PMID:29924900|PMID:31368252|PMID:31654484|PMID:34782754|PMID:9536098 9041833 Atp5if1 ATP synthase inhibitory factor subunit 1 gene DOID:305 carcinoma ISO RGD:1312589 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 9041833 Atp5if1 ATP synthase inhibitory factor subunit 1 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1312589 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 9041833 Atp5if1 ATP synthase inhibitory factor subunit 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1312589 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 9041833 Atp5if1 ATP synthase inhibitory factor subunit 1 gene DOID:9452 steatotic liver disease ISO RGD:1312589 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 9041840 Rita1 RBPJ interacting and tubulin associated 1 gene DOID:630 genetic disease ISO RGD:1602853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041847 Sec22a SEC22 homolog A, vesicle trafficking protein gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1344636 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 9041847 Sec22a SEC22 homolog A, vesicle trafficking protein gene DOID:630 genetic disease ISO RGD:1344636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041847 Sec22a SEC22 homolog A, vesicle trafficking protein gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1344636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 9041847 Sec22a SEC22 homolog A, vesicle trafficking protein gene DOID:9270 alkaptonuria ISO RGD:1344636 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9041861 Vps26c VPS26 endosomal protein sorting factor C gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1315747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 9041861 Vps26c VPS26 endosomal protein sorting factor C gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1315747 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 9041861 Vps26c VPS26 endosomal protein sorting factor C gene DOID:1826 epilepsy ISO RGD:1315747 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9041861 Vps26c VPS26 endosomal protein sorting factor C gene DOID:630 genetic disease ISO RGD:1315747 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041874 Tmem254 transmembrane protein 254 gene DOID:630 genetic disease ISO RGD:1313865 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041874 Tmem254 transmembrane protein 254 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9041885 B9d2 B9 domain containing 2 gene DOID:0050777 Joubert syndrome ISO RGD:1603296 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:21763481|PMID:26092869|PMID:28771248|PMID:33234550 9041885 B9d2 B9 domain containing 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603296 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:21763481|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:33234550 9041885 B9d2 B9 domain containing 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9041885 B9d2 B9 domain containing 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9041885 B9d2 B9 domain containing 2 gene DOID:2340 craniosynostosis ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 9041885 B9d2 B9 domain containing 2 gene DOID:630 genetic disease ISO RGD:1603296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9041885 B9d2 B9 domain containing 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9041885 B9d2 B9 domain containing 2 gene DOID:9004364 Meckel Syndrome 10 ISO RGD:1603296 D RGD:7240710 20180130 OMIM 9041885 B9d2 B9 domain containing 2 gene DOID:9004364 Meckel Syndrome 10 ISO RGD:1603296 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Joubert syndrome 34 | ClinVar Annotator: match by term: Meckel syndrome, type 10 PMID:21763481|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:31411728|PMID:33234550 9041885 B9d2 B9 domain containing 2 gene DOID:9269 maple syrup urine disease ISO RGD:1603296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9041896 Arl8b ADP ribosylation factor like GTPase 8B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9041909 Efcab6 EF-hand calcium binding domain 6 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1601856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9041909 Efcab6 EF-hand calcium binding domain 6 gene DOID:10283 prostate cancer ISO RGD:1601856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9041909 Efcab6 EF-hand calcium binding domain 6 gene DOID:1059 intellectual disability ISO RGD:1601856 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9041909 Efcab6 EF-hand calcium binding domain 6 gene DOID:630 genetic disease ISO RGD:1601856 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041949 Ipo9 importin 9 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1321497 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9041949 Ipo9 importin 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1321497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9041949 Ipo9 importin 9 gene DOID:630 genetic disease ISO RGD:1321497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9041949 Ipo9 importin 9 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1321497 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9041949 Ipo9 importin 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1321497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9042021 Mms22l MMS22 like, DNA repair protein gene DOID:630 genetic disease ISO RGD:1312286 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0050941 spastic ataxia 2 ISO RGD:734106 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110662 congenital myasthenic syndrome 1B ISO RGD:734106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel PMID:17878953|PMID:26467025|PMID:28492532|PMID:8755487 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110663 congenital myasthenic syndrome 1A ISO RGD:734106 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic slow-channel PMID:10496269|PMID:10514102|PMID:10534268|PMID:15322984|PMID:15367858|PMID:20301347|PMID:20562457|PMID:22678886|PMID:24033266|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28492532|PMID:29054425|PMID:29383513|PMID:9097970|PMID:9668239|PMID:9708546 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:734106 D RGD:7240710 20180214 OMIM 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110677 congenital myasthenic syndrome 4B ISO RGD:734106 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel PMID:10211467|PMID:10382905|PMID:10496269|PMID:10514102|PMID:10534268|PMID:10962020|PMID:11030414|PMID:11960891|PMID:12356851|PMID:12417530|PMID:14532324|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21175599|PMID:21940170|PMID:22592360|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28024842|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8232384|PMID:8663316|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9606190|PMID:9668239|PMID:9708546 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:734106 D RGD:7240710 20180130 OMIM 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:734106 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel PMID:10211467|PMID:10382905|PMID:10496269|PMID:10514102|PMID:10534268|PMID:10962020|PMID:11030414|PMID:11408331|PMID:11960891|PMID:12034803|PMID:12141316|PMID:12356851|PMID:12417530|PMID:12453093|PMID:12536367|PMID:14532324|PMID:14592868|PMID:15145336|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16061559|PMID:16087917|PMID:16198106|PMID:16199547|PMID:16550914|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19153382|PMID:19289485|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21175599|PMID:21520333|PMID:21822932|PMID:21940170|PMID:22178625|PMID:22382357|PMID:22678886|PMID:22865819|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27634344|PMID:27717316|PMID:27779167|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29367459|PMID:29383513|PMID:29395675|PMID:29702980|PMID:30124556|PMID:30542963|PMID:30792901|PMID:30898524|PMID:30931400|PMID:31589614|PMID:31773638|PMID:31980526|PMID:32721234|PMID:32727330|PMID:33756069|PMID:35628876|PMID:36099689|PMID:3651795|PMID:7531341|PMID:7538206|PMID:7863154|PMID:8232384|PMID:8663316|PMID:8755487|PMID:8872460|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9539130|PMID:9606190|PMID:9668239|PMID:9708546 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:734106 D RGD:7240710 20180130 OMIM 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:0110679 congenital myasthenic syndrome 4C ISO RGD:734106 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency PMID:10211467|PMID:10496269|PMID:10514102|PMID:10534268|PMID:11030414|PMID:12417530|PMID:14532324|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:16199547|PMID:16550914|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19544078|PMID:20301347|PMID:20562457|PMID:21175599|PMID:21940170|PMID:22678886|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26467025|PMID:27634344|PMID:28024842|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:30124556|PMID:31980526|PMID:8232384|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9668239|PMID:9708546 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:734106 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:10496269|PMID:10514102|PMID:10534268|PMID:11030414|PMID:11408331|PMID:12141316|PMID:12356851|PMID:12417530|PMID:12536367|PMID:14532324|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:16199547|PMID:17363247|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19153382|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21175599|PMID:21940170|PMID:22382357|PMID:22678886|PMID:22865819|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27634344|PMID:27717316|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:31980526|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9539130|PMID:9668239|PMID:9708546 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:3635 congenital myasthenic syndrome ISO RGD:734106 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital PMID:10496269|PMID:10514102|PMID:10534268|PMID:11030414|PMID:11408331|PMID:12141316|PMID:12356851|PMID:12417530|PMID:12536367|PMID:14532324|PMID:15322984|PMID:15367858|PMID:15951177|PMID:16087917|PMID:16199547|PMID:17363247|PMID:17576681|PMID:17878953|PMID:18414213|PMID:19064877|PMID:19153382|PMID:19544078|PMID:20157724|PMID:20301347|PMID:20562457|PMID:21150643|PMID:21175599|PMID:21940170|PMID:22382357|PMID:22678886|PMID:22865819|PMID:24033266|PMID:24295813|PMID:25326635|PMID:25741868|PMID:26284228|PMID:26467025|PMID:27634344|PMID:27717316|PMID:28024842|PMID:28464723|PMID:28492532|PMID:29054425|PMID:29189923|PMID:29383513|PMID:30792901|PMID:31773638|PMID:31980526|PMID:32727330|PMID:36099689|PMID:8755487|PMID:8957026|PMID:9097970|PMID:9158150|PMID:9443457|PMID:9536098|PMID:9539130|PMID:9668239|PMID:9708546 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:630 genetic disease ISO RGD:734106 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:9006988 Congenital Myasthenic Syndrome, Fast-Channel ISO RGD:734106 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9042053 Chrne cholinergic receptor nicotinic epsilon subunit gene DOID:9008786 congenital myasthenic syndrome 4 ISO RGD:734106 D RGD:7240710 20240110 OMIM 9042078 Retreg2 reticulophagy regulator family member 2 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 9042078 Retreg2 reticulophagy regulator family member 2 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 9042078 Retreg2 reticulophagy regulator family member 2 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 9042078 Retreg2 reticulophagy regulator family member 2 gene DOID:1148 polydactyly ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 9042078 Retreg2 reticulophagy regulator family member 2 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 9042078 Retreg2 reticulophagy regulator family member 2 gene DOID:630 genetic disease ISO RGD:1315689 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042078 Retreg2 reticulophagy regulator family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9042091 Il36rn interleukin 36 receptor antagonist gene DOID:0080474 pustular psoriasis 14 ISO RGD:1322552 D RGD:7240710 20180130 OMIM 9042091 Il36rn interleukin 36 receptor antagonist gene DOID:0080474 pustular psoriasis 14 ISO RGD:1322552 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ACRODERMATITIS CONTINUA OF HALLOPEAU | ClinVar Annotator: match by term: Generalized pustular psoriasis | ClinVar Annotator: match by term: Psoriasis 14, pustular PMID:16199547|PMID:17576681|PMID:19494218|PMID:21792839|PMID:21839423|PMID:21848462|PMID:22428995|PMID:22903787|PMID:22940634|PMID:23303454|PMID:23358093|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23834760|PMID:23863864|PMID:24019411|PMID:24033266|PMID:24656634|PMID:24898045|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25615897|PMID:25741868|PMID:25989471|PMID:26100510|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27096382|PMID:27220475|PMID:27388993|PMID:27542682|PMID:27900482|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:29665114|PMID:29892664|PMID:30036598|PMID:30609409|PMID:30953287|PMID:32301172|PMID:33729564|PMID:34339530|PMID:34903506|PMID:6147717|PMID:9536098 9042091 Il36rn interleukin 36 receptor antagonist gene DOID:289 endometriosis ISO RGD:1322552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometriosis 9042091 Il36rn interleukin 36 receptor antagonist gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1322552 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:17576681|PMID:21839423|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23863864|PMID:24033266|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27220475|PMID:27388993|PMID:27542682|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:30036598|PMID:30609409|PMID:9536098 9042091 Il36rn interleukin 36 receptor antagonist gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1322552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:17576681|PMID:21839423|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23863864|PMID:24033266|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27220475|PMID:27388993|PMID:27542682|PMID:27900482|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:30036598|PMID:30609409|PMID:9536098 9042091 Il36rn interleukin 36 receptor antagonist gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1322552 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:17576681|PMID:21839423|PMID:22428995|PMID:22903787|PMID:23303454|PMID:23428889|PMID:23648549|PMID:23698098|PMID:23792462|PMID:23863864|PMID:24033266|PMID:24979538|PMID:25212972|PMID:25427108|PMID:25458002|PMID:25468355|PMID:25741868|PMID:25989471|PMID:26147717|PMID:26589685|PMID:26676204|PMID:27220475|PMID:27388993|PMID:27542682|PMID:27900482|PMID:28063630|PMID:28492532|PMID:28887889|PMID:29030861|PMID:30036598|PMID:30609409|PMID:32301172|PMID:6147717|PMID:9536098 9042091 Il36rn interleukin 36 receptor antagonist gene DOID:630 genetic disease ISO RGD:1322552 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9042091 Il36rn interleukin 36 receptor antagonist gene DOID:8893 psoriasis ISO RGD:1322552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9042091 Il36rn interleukin 36 receptor antagonist gene DOID:9007151 Deficiency of Interleukin-1 Receptor Antagonist ISO RGD:1322552 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis PMID:19494218|PMID:21792839|PMID:22940634|PMID:23698098|PMID:26100510|PMID:28492532 9042091 Il36rn interleukin 36 receptor antagonist gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1311212 D RGD:9068941 20210514 RGD PMID:32048631|REF_RGD_ID:126925167 9042100 Rad9b RAD9 checkpoint clamp component B gene DOID:0080074 neural tube defect ISO RGD:1317874 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neural tube defect 9042100 Rad9b RAD9 checkpoint clamp component B gene DOID:630 genetic disease ISO RGD:1317874 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042135 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0050778 Meckel syndrome ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868 9042135 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0070122 Meckel syndrome 8 ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 8 PMID:25741868|PMID:28492532 9042135 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0070134 autosomal recessive cutis laxa type IIA ISO RGD:1320849 D RGD:7240710 20180130 OMIM 9042135 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0070134 autosomal recessive cutis laxa type IIA ISO RGD:1320849 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cutis laxa with osteodystrophy PMID:15657616|PMID:17576681|PMID:18157129|PMID:20301755|PMID:22773132|PMID:24815019|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098 9042135 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0080564 congenital disorder of glycosylation Il ISO RGD:1320849 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:16199547|PMID:17576681|PMID:18157129|PMID:19321599|PMID:22773132|PMID:23806237|PMID:23963297|PMID:25741868|PMID:26467025|PMID:28294978|PMID:28492532|PMID:9536098 9042135 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1320849 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868|PMID:28492532 9042135 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0110993 Joubert syndrome 24 ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 24 PMID:25741868|PMID:28492532 9042135 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0112171 wrinkly skin syndrome ISO RGD:1320849 D RGD:7240710 20180130 OMIM 9042135 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:0112171 wrinkly skin syndrome ISO RGD:1320849 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Wrinkly skin syndrome PMID:18157129|PMID:20301755|PMID:25741868|PMID:28492532 9042135 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:3144 cutis laxa ISO RGD:1320849 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cutis laxa PMID:18157129|PMID:19321599|PMID:28492532 9042135 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:630 genetic disease ISO RGD:1320849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9042135 Atp6v0a2 ATPase H+ transporting V0 subunit a2 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1320849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive PMID:25741868|PMID:26467025|PMID:28492532 9042158 Btbd3 BTB domain containing 3 gene DOID:630 genetic disease ISO RGD:1323177 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042174 Pc pyruvate carboxylase gene DOID:1059 intellectual disability ISO RGD:733418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9042174 Pc pyruvate carboxylase gene DOID:3312 bipolar disorder ISO RGD:733418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 9042174 Pc pyruvate carboxylase gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:733418 D RGD:7240710 20180130 OMIM 9042174 Pc pyruvate carboxylase gene DOID:3651 pyruvate carboxylase deficiency disease ISO RGD:733418 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:12112657|PMID:16199547|PMID:17576681|PMID:18676167|PMID:19306334|PMID:23430542|PMID:23973720|PMID:25058219|PMID:25741868|PMID:27290639|PMID:28492532|PMID:28831725|PMID:30045381|PMID:30870574|PMID:32581362|PMID:32901917|PMID:35782291|PMID:9536098|PMID:9585002|PMID:9585612 9042174 Pc pyruvate carboxylase gene DOID:630 genetic disease ISO RGD:733418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18676167|PMID:25741868|PMID:28492532|PMID:32581362|PMID:9536098 9042174 Pc pyruvate carboxylase gene DOID:8584 Burkitt lymphoma ISO RGD:733418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 9042174 Pc pyruvate carboxylase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:733418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 9042174 Pc pyruvate carboxylase gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:733418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9042174 Pc pyruvate carboxylase gene DOID:9004872 Congenital Infantile Lactic Acidosis ISO RGD:733418 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital lactic acidosis PMID:28492532|PMID:32581362 9042174 Pc pyruvate carboxylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 9042174 Pc pyruvate carboxylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733418 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 9042174 Pc pyruvate carboxylase gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:733418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 9042174 Pc pyruvate carboxylase gene DOID:9008086 Developmental Disabilities ISO RGD:733418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741903 9042174 Pc pyruvate carboxylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:733419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 9042221 Lrrtm3 leucine rich repeat transmembrane neuronal 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20678249 9042221 Lrrtm3 leucine rich repeat transmembrane neuronal 3 gene DOID:0110084 arrhythmogenic right ventricular dysplasia 13 ISO RGD:1312552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 13 PMID:28492532 9042221 Lrrtm3 leucine rich repeat transmembrane neuronal 3 gene DOID:630 genetic disease ISO RGD:1312552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042228 Tnrc18 trinucleotide repeat containing 18 gene DOID:11372 megacolon ISO RGD:2291816 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9042228 Tnrc18 trinucleotide repeat containing 18 gene DOID:630 genetic disease ISO RGD:2291816 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9042263 Polr2c RNA polymerase II subunit C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315832 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9042263 Polr2c RNA polymerase II subunit C gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1315832 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure 9042263 Polr2c RNA polymerase II subunit C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315832 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9042263 Polr2c RNA polymerase II subunit C gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1315832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9042263 Polr2c RNA polymerase II subunit C gene DOID:5223 infertility ISO RGD:1315832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility 9042263 Polr2c RNA polymerase II subunit C gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome 9042263 Polr2c RNA polymerase II subunit C gene DOID:630 genetic disease ISO RGD:1315832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042278 Yaf2 YY1 associated factor 2 gene DOID:13938 amenorrhea ISO RGD:1314010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9042278 Yaf2 YY1 associated factor 2 gene DOID:630 genetic disease ISO RGD:1314010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042292 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:0111474 combined oxidative phosphorylation deficiency 1 ISO RGD:1603941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 PMID:28492532|PMID:29075935 9042292 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:0111475 combined oxidative phosphorylation deficiency 39 ISO RGD:1603941 D RGD:7240710 20190515 OMIM 9042292 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:0111475 combined oxidative phosphorylation deficiency 39 ISO RGD:1603941 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 39 PMID:17576681|PMID:22700954|PMID:25741868|PMID:26016410|PMID:28492532|PMID:29075935|PMID:9536098 9042292 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:3323 Sandhoff disease ISO RGD:1603941 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:18758829|PMID:28492532|PMID:7550345 9042292 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:630 genetic disease ISO RGD:1603941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22700954|PMID:25741868|PMID:28492532 9042292 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1603941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:28492532|PMID:29075935 9042292 Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603941 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9042324 Tp53inp1 tumor protein p53 inducible nuclear protein 1 gene DOID:14221 abdominal obesity-metabolic syndrome 1 ISO RGD:1332277 D RGD:9068941 20220825 MouseDO OMIM:605552 9042324 Tp53inp1 tumor protein p53 inducible nuclear protein 1 gene DOID:630 genetic disease ISO RGD:1349699 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042344 Rgs11 regulator of G protein signaling 11 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1321340 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 9042344 Rgs11 regulator of G protein signaling 11 gene DOID:1826 epilepsy ISO RGD:1321340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 9042344 Rgs11 regulator of G protein signaling 11 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1321340 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9042344 Rgs11 regulator of G protein signaling 11 gene DOID:630 genetic disease ISO RGD:1321340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042378 Defb115 defensin beta 115 gene DOID:630 genetic disease ISO RGD:1351953 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042382 Chit1 chitinase 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1313797 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9042382 Chit1 chitinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1313797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9042382 Chit1 chitinase 1 gene DOID:1926 Gaucher's disease ISO RGD:1313797 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17464953 9042382 Chit1 chitinase 1 gene DOID:630 genetic disease ISO RGD:1313797 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9042382 Chit1 chitinase 1 gene DOID:9004182 CHITOTRIOSIDASE DEFICIENCY ISO RGD:1313797 D RGD:7240710 20190315 OMIM 9042382 Chit1 chitinase 1 gene DOID:9004182 CHITOTRIOSIDASE DEFICIENCY ISO RGD:1313797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chitotriosidase deficiency PMID:17464953|PMID:17693102|PMID:23430552|PMID:23430794|PMID:25741868|PMID:27111557|PMID:27153562|PMID:28492532|PMID:9748235 9042382 Chit1 chitinase 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1313797 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9042382 Chit1 chitinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1313797 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9042402 Ildr1 immunoglobulin like domain containing receptor 1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1348957 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:15641023|PMID:21255762|PMID:25741868|PMID:30303587 9042402 Ildr1 immunoglobulin like domain containing receptor 1 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1348957 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 9042402 Ildr1 immunoglobulin like domain containing receptor 1 gene DOID:0110500 autosomal recessive nonsyndromic deafness 42 ISO RGD:1348957 D RGD:7240710 20180130 OMIM 9042402 Ildr1 immunoglobulin like domain containing receptor 1 gene DOID:0110500 autosomal recessive nonsyndromic deafness 42 ISO RGD:1348957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 42 | ClinVar Annotator: match by term: ILDR1-related condition PMID:15641023|PMID:21255762|PMID:24033266|PMID:25668204|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27610647|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32747562 9042402 Ildr1 immunoglobulin like domain containing receptor 1 gene DOID:10003 sensorineural hearing loss ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital sensorineural hearing impairment PMID:21255762|PMID:25741868|PMID:28492532 9042402 Ildr1 immunoglobulin like domain containing receptor 1 gene DOID:630 genetic disease ISO RGD:1348957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 9042402 Ildr1 immunoglobulin like domain containing receptor 1 gene DOID:9004538 Hearing Loss ISO RGD:1348957 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:21255762|PMID:24033266|PMID:25741868|PMID:27610647|PMID:28492532|PMID:30311386 9042402 Ildr1 immunoglobulin like domain containing receptor 1 gene DOID:9008681 Deafness ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 9042402 Ildr1 immunoglobulin like domain containing receptor 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 9042402 Ildr1 immunoglobulin like domain containing receptor 1 gene DOID:9270 alkaptonuria ISO RGD:1348957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9042453 Gcm1 glial cells missing transcription factor 1 gene DOID:630 genetic disease ISO RGD:1348704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042470 Lrrc66 leucine rich repeat containing 66 gene DOID:630 genetic disease ISO RGD:1602410 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042475 Tm2d3 TM2 domain containing 3 gene DOID:630 genetic disease ISO RGD:1602099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042475 Tm2d3 TM2 domain containing 3 gene DOID:9255 frontotemporal dementia ISO RGD:1602099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868 9042486 Phtf1 putative homeodomain transcription factor 1 gene DOID:0080690 RASopathy ISO RGD:1353546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9042486 Phtf1 putative homeodomain transcription factor 1 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1353546 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 9042486 Phtf1 putative homeodomain transcription factor 1 gene DOID:630 genetic disease ISO RGD:1353546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042517 Gng2 G protein subunit gamma 2 gene DOID:630 genetic disease ISO RGD:736477 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042525 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:0060041 autism spectrum disorder ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 9042525 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:0060411 chromosome 1q21.1 deletion syndrome ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 9042525 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:0060435 chromosome 1q21.1 duplication syndrome ISO RGD:1314899 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 duplication syndrome 9042525 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:0110231 cataract 1 multiple types ISO RGD:1314899 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 1 multiple types PMID:17601931|PMID:23720739|PMID:23772370|PMID:28492532 9042525 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome | ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome 9042525 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:1540 parathyroid carcinoma ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9042525 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:5419 schizophrenia ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9042525 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:630 genetic disease ISO RGD:1314899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042525 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9042525 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:26350515 9042525 Acp6 acid phosphatase 6, lysophosphatidic gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1314899 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9042549 Nup54 nucleoporin 54 gene DOID:630 genetic disease ISO RGD:732578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042549 Nup54 nucleoporin 54 gene DOID:891 progressive myoclonus epilepsy ISO RGD:732578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 9042549 Nup54 nucleoporin 54 gene DOID:9004848 Dystonia 37, Early-Onset, with Striatal Lesions ISO RGD:732578 D RGD:7240710 20230712 OMIM 9042549 Nup54 nucleoporin 54 gene DOID:9004848 Dystonia 37, Early-Onset, with Striatal Lesions ISO RGD:732578 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Dystonia 37, early-onset, with striatal lesions PMID:36333996 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:736336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:736336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:736336 D RGD:7240710 20180130 OMIM 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:0111670 primary hyperoxaluria type 1 ISO RGD:736336 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10394939|PMID:10400689|PMID:10453743|PMID:10541294|PMID:10737993|PMID:10862087|PMID:10960483|PMID:11562405|PMID:11708860|PMID:12559847|PMID:12737622|PMID:12768081|PMID:12777626|PMID:12899834|PMID:1301173|PMID:1349575|PMID:15110324|PMID:15253729|PMID:15327387|PMID:15356974|PMID:15365967|PMID:15464418|PMID:15802217|PMID:15840016|PMID:15849466|PMID:15961945|PMID:15961946|PMID:15963748|PMID:16199547|PMID:16208537|PMID:16850020|PMID:16912707|PMID:16931222|PMID:16971151|PMID:1703535|PMID:17110443|PMID:17460142|PMID:17495019|PMID:17576681|PMID:17696873|PMID:18282470|PMID:18448374|PMID:18782763|PMID:1879825|PMID:18810341|PMID:18985333|PMID:19155213|PMID:19479957|PMID:19571789|PMID:1961759|PMID:20016466|PMID:20133649|PMID:20208150|PMID:20301460|PMID:2039493|PMID:20544097|PMID:20549407|PMID:20564000|PMID:20573805|PMID:20713123|PMID:21176891|PMID:21705122|PMID:21850686|PMID:22018727|PMID:22529745|PMID:22685354|PMID:22781098|PMID:22821680|PMID:22844106|PMID:22923379|PMID:22956877|PMID:23229545|PMID:23430879|PMID:23439734|PMID:23551880|PMID:23589421|PMID:23810941|PMID:23861508|PMID:24012869|PMID:24033266|PMID:24055001|PMID:24205397|PMID:24385516|PMID:24718375|PMID:24934730|PMID:24988064|PMID:24990153|PMID:25013605|PMID:25296721|PMID:25363903|PMID:25620715|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26149463|PMID:26252291|PMID:26383609|PMID:26759051|PMID:27135212|PMID:27512303|PMID:27568336|PMID:27644547|PMID:27659337|PMID:27915025|PMID:27935012|PMID:28492532|PMID:28553045|PMID:28619084|PMID:28660284|PMID:28893421|PMID:28904440|PMID:28906061|PMID:29110180|PMID:29127259|PMID:29244539|PMID:29456205|PMID:29590070|PMID:29959618|PMID:30076350|PMID:30341509|PMID:30488096|PMID:30541997|PMID:30655312|PMID:30787879|PMID:31078535|PMID:31215412|PMID:31589614|PMID:31715429|PMID:32556641|PMID:32569165|PMID:32608139|PMID:32792227|PMID:33408043|PMID:33691640|PMID:33721035|PMID:34031707|PMID:34082749|PMID:34805638|PMID:34837989|PMID:34840803|PMID:35149915|PMID:35661454|PMID:35678848|PMID:35695965|PMID:35812297|PMID:36185032|PMID:36259736|PMID:37139236|PMID:7967498|PMID:8101040|PMID:9002528|PMID:9136629|PMID:9192270|PMID:9536098|PMID:9604803 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:736336 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:1059 intellectual disability ISO RGD:736336 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:1184 nephrotic syndrome ISO RGD:736336 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:10453743|PMID:15327387|PMID:15464418|PMID:17495019|PMID:19479957|PMID:25629080|PMID:25741868|PMID:27135212|PMID:28492532|PMID:28619084|PMID:29127259|PMID:30655312 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:12679 nephrocalcinosis ISO RGD:736336 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:10541294|PMID:10960483|PMID:12777626|PMID:15327387|PMID:15802217|PMID:15961946|PMID:16912707|PMID:17460142|PMID:17495019|PMID:19155213|PMID:19479957|PMID:20133649|PMID:23229545|PMID:24012869|PMID:24055001|PMID:24718375|PMID:24988064|PMID:25629080|PMID:25741868|PMID:28492532|PMID:28893421|PMID:31078535|PMID:35695965|PMID:8101040|PMID:9136629|PMID:9192270 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:2977 primary hyperoxaluria ISO RGD:736336 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:10400689|PMID:10453743|PMID:10541294|PMID:10862087|PMID:10960483|PMID:11562405|PMID:11708860|PMID:12737622|PMID:12768081|PMID:12777626|PMID:1301173|PMID:1349575|PMID:15110324|PMID:15253729|PMID:15327387|PMID:15356974|PMID:15464418|PMID:15802217|PMID:15840016|PMID:15961945|PMID:15961946|PMID:15963748|PMID:16199547|PMID:16208537|PMID:16850020|PMID:16912707|PMID:16971151|PMID:1703535|PMID:17110443|PMID:17460142|PMID:17495019|PMID:17696873|PMID:18282470|PMID:18448374|PMID:18782763|PMID:18985333|PMID:19155213|PMID:19479957|PMID:19571789|PMID:1961759|PMID:20016466|PMID:20133649|PMID:20208150|PMID:20301460|PMID:2039493|PMID:20564000|PMID:20713123|PMID:22018727|PMID:22529745|PMID:22821680|PMID:22844106|PMID:22923379|PMID:23229545|PMID:23551880|PMID:23589421|PMID:23810941|PMID:24012869|PMID:24033266|PMID:24055001|PMID:24205397|PMID:24385516|PMID:24718375|PMID:24988064|PMID:24990153|PMID:25296721|PMID:25363903|PMID:25629080|PMID:25644115|PMID:25741868|PMID:26383609|PMID:26759051|PMID:27135212|PMID:27512303|PMID:27915025|PMID:27935012|PMID:28492532|PMID:28619084|PMID:28660284|PMID:28893421|PMID:28904440|PMID:29110180|PMID:29127259|PMID:30341509|PMID:30488096|PMID:30541997|PMID:30655312|PMID:31078535|PMID:31589614|PMID:32556641|PMID:32792227|PMID:33691640|PMID:33721035|PMID:34031707|PMID:34840803|PMID:35149915|PMID:35695965|PMID:35812297|PMID:36185032|PMID:8101040|PMID:9002528|PMID:9136629|PMID:9192270|PMID:9604803 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:585 nephrolithiasis ISO RGD:736336 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nephrolithiasis PMID:10541294|PMID:10960483|PMID:12777626|PMID:15327387|PMID:16912707|PMID:17460142|PMID:23229545|PMID:24012869|PMID:24988064|PMID:25741868|PMID:28492532|PMID:28893421|PMID:9192270 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:630 genetic disease ISO RGD:736336 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:736336 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:9002785 Vitamin B Deficiency ISO RGD:2073 D RGD:9068941 20200609 RGD PMID:12544342|REF_RGD_ID:1599455 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:9004912 Hyperoxaluria ISO RGD:736336 D RGD:9068941 20200609 RGD DNA:mutation:cds: PMID:2039493|REF_RGD_ID:1300367 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:9004912 Hyperoxaluria ISO RGD:736336 D RGD:9068941 20200609 RGD DNA:mutations:cds: PMID:8101040|REF_RGD_ID:1302510 9042568 Agxt alanine--glyoxylate and serine--pyruvate aminotransferase gene DOID:9008457 Thrombocytopenia 7 ISO RGD:12409610 D RGD:9068941 20210604 OMIA Hyperoxaluria, primary, type I (Oxalosis I) PMID:1672096|PMID:22486513|PMID:2394849 9042612 Arl13b ADP ribosylation factor like GTPase 13B gene DOID:0050777 Joubert syndrome ISO RGD:1349356 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:18674751|PMID:23150559|PMID:23153492|PMID:25741868|PMID:26092869|PMID:27153923|PMID:28492532|PMID:31846650|PMID:34447983 9042612 Arl13b ADP ribosylation factor like GTPase 13B gene DOID:0080074 neural tube defect ISO RGD:1557633 D RGD:9068941 20200609 RGD DNA:transversion:intron:IVS2+2T>G (mouse) PMID:17488627|REF_RGD_ID:11553935 9042612 Arl13b ADP ribosylation factor like GTPase 13B gene DOID:0110980 Joubert syndrome 1 ISO RGD:1349356 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 PMID:18674751|PMID:24033266|PMID:25741868|PMID:28492532 9042612 Arl13b ADP ribosylation factor like GTPase 13B gene DOID:0111003 Joubert syndrome 8 ISO RGD:1349356 D RGD:7240710 20180130 OMIM 9042612 Arl13b ADP ribosylation factor like GTPase 13B gene DOID:0111003 Joubert syndrome 8 ISO RGD:1349356 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:16199547|PMID:17576681|PMID:18674751|PMID:23150559|PMID:23153492|PMID:24033266|PMID:25138100|PMID:25741868|PMID:26092869|PMID:26132555|PMID:27153923|PMID:28492532|PMID:28787594|PMID:29255182|PMID:34447983|PMID:9536098 9042612 Arl13b ADP ribosylation factor like GTPase 13B gene DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive PMID:16363235|PMID:22627709|PMID:28492532|PMID:9241758 9042612 Arl13b ADP ribosylation factor like GTPase 13B gene DOID:2451 protein S deficiency ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Protein S deficiency disease PMID:32581362 9042612 Arl13b ADP ribosylation factor like GTPase 13B gene DOID:2843 long QT syndrome ISO RGD:1349356 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555|PMID:28492532 9042612 Arl13b ADP ribosylation factor like GTPase 13B gene DOID:2975 cystic kidney disease ISO RGD:1557633 D RGD:9068941 20200609 RGD PMID:27153923|REF_RGD_ID:11553938 9042612 Arl13b ADP ribosylation factor like GTPase 13B gene DOID:630 genetic disease ISO RGD:1349356 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25138100|PMID:25741868|PMID:28492532|PMID:28787594 9042612 Arl13b ADP ribosylation factor like GTPase 13B gene DOID:9970 obesity ISO RGD:1557633 D RGD:9068941 20200609 RGD protein:decreased expression:hypothalamus, cilium (mouse) PMID:22581473|REF_RGD_ID:11553936 9042633 Golt1a golgi transport 1A gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346868 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9042633 Golt1a golgi transport 1A gene DOID:12849 autistic disorder ISO RGD:1346868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9042633 Golt1a golgi transport 1A gene DOID:1540 parathyroid carcinoma ISO RGD:1346868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9042633 Golt1a golgi transport 1A gene DOID:630 genetic disease ISO RGD:1346868 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042633 Golt1a golgi transport 1A gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346868 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9042633 Golt1a golgi transport 1A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346868 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9042646 Rangrf RAN guanine nucleotide release factor gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9042646 Rangrf RAN guanine nucleotide release factor gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1602892 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:22431104|PMID:23172776|PMID:28492532 9042646 Rangrf RAN guanine nucleotide release factor gene DOID:2729 dyskeratosis congenita ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 9042646 Rangrf RAN guanine nucleotide release factor gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1602892 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 9042646 Rangrf RAN guanine nucleotide release factor gene DOID:3910 lung adenocarcinoma ISO RGD:1602892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9042646 Rangrf RAN guanine nucleotide release factor gene DOID:630 genetic disease ISO RGD:1602892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9042646 Rangrf RAN guanine nucleotide release factor gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1602892 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:30847666|PMID:9536098 9042646 Rangrf RAN guanine nucleotide release factor gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:1563195 D RGD:9068941 20200609 RGD PMID:8557821|REF_RGD_ID:6771380 9042646 Rangrf RAN guanine nucleotide release factor gene DOID:9006205 Animal Disease Models ISO RGD:1602892 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9042655 Sec14l2 SEC14 like lipid binding 2 gene DOID:630 genetic disease ISO RGD:736725 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:0050855 renal fibrosis ISO RGD:731400 D RGD:9068941 20200609 RGD PMID:22015440|REF_RGD_ID:13703100 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:0060180 colitis ISO RGD:731400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:10652 Alzheimer's disease ISO RGD:620404 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, hippocampus PMID:24792732|REF_RGD_ID:13703037 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:10652 Alzheimer's disease onset ISO RGD:731400 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.R215I (rs142946965) (human) PMID:29988083|REF_RGD_ID:13782143 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:14004 thoracic aortic aneurysm ISO RGD:620404 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:20621845|REF_RGD_ID:5129489 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:3310 atopic dermatitis ISO RGD:731401 D RGD:9068941 20220825 MouseDO OMIM:603165 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:5199 ureteral obstruction ISO RGD:731401 D RGD:9068941 20200609 RGD PMID:24103556|REF_RGD_ID:13703030 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:6000 congestive heart failure treatment ISO RGD:620404 D RGD:9068941 20200609 RGD associated with pulmonary hypertension PMID:22628376|REF_RGD_ID:13703064 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:630 genetic disease ISO RGD:731400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9000099 Experimental Colitis treatment ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:11884025|REF_RGD_ID:632022 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9000113 Pneumococcal Meningitis treatment ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:24491581|REF_RGD_ID:13703038 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9001556 Neonatal Inflammatory Skin and Bowel Disease 1 ISO RGD:731400 D RGD:7240710 20180130 OMIM 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9001556 Neonatal Inflammatory Skin and Bowel Disease 1 ISO RGD:731400 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1 PMID:16199547|PMID:17576681|PMID:22010916|PMID:25640679|PMID:25741868|PMID:25804906|PMID:26683521|PMID:28492532|PMID:29560122|PMID:31060243|PMID:32447396|PMID:9536098 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9002457 Experimental Arthritis ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:23897050|REF_RGD_ID:13703039 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:15878627|REF_RGD_ID:1559178 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:620404 D RGD:9068941 20200609 RGD associated with hypertension PMID:23850346|REF_RGD_ID:13703040 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9004756 Brain Hypoxia ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:22230263|REF_RGD_ID:13703065 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:620404 D RGD:9068941 20200609 RGD PMID:22015440|REF_RGD_ID:13703100 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9008110 Blister ISO RGD:731400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19167455 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731400 D RGD:9068941 20200609 RGD protein:increased activity:artery smooth muscle PMID:19581416|REF_RGD_ID:2313250 9042708 Adam17 ADAM metallopeptidase domain 17 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731400 D RGD:9068941 20200609 RGD protein:increased activity:skeletal muscle tissue PMID:19633828|REF_RGD_ID:2312470 9042742 Klf5 KLF transcription factor 5 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1345927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 9042742 Klf5 KLF transcription factor 5 gene DOID:0110459 dilated cardiomyopathy 1FF ISO RGD:1345927 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1FF 9042742 Klf5 KLF transcription factor 5 gene DOID:10941 intracranial aneurysm ISO RGD:1345927 D RGD:9068941 20230202 RGD protein:increased expression:artery PMID:30201338|REF_RGD_ID:155883158 9042742 Klf5 KLF transcription factor 5 gene DOID:11054 urinary bladder cancer ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27514407 9042742 Klf5 KLF transcription factor 5 gene DOID:1749 squamous cell carcinoma ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 9042742 Klf5 KLF transcription factor 5 gene DOID:1793 pancreatic cancer ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26098869 9042742 Klf5 KLF transcription factor 5 gene DOID:224 transient cerebral ischemia ameliorates ISO RGD:621446 D RGD:9068941 20210716 RGD PMID:32272873|REF_RGD_ID:45073134 9042742 Klf5 KLF transcription factor 5 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30639269 9042742 Klf5 KLF transcription factor 5 gene DOID:3910 lung adenocarcinoma ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 9042742 Klf5 KLF transcription factor 5 gene DOID:5082 liver cirrhosis ISO RGD:1345927 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33549628 9042742 Klf5 KLF transcription factor 5 gene DOID:630 genetic disease ISO RGD:1345927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042742 Klf5 KLF transcription factor 5 gene DOID:657 adenoma ISO RGD:1551083 D RGD:9068941 20200609 RGD PMID:14726538|REF_RGD_ID:1304288 9042742 Klf5 KLF transcription factor 5 gene DOID:9000784 Fibrosis severity ISO RGD:1551083 D RGD:9068941 20200609 RGD PMID:15098654|REF_RGD_ID:1304323 9042742 Klf5 KLF transcription factor 5 gene DOID:9002514 Neointima ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16224062 9042742 Klf5 KLF transcription factor 5 gene DOID:9002514 Neointima ISO RGD:621446 D RGD:9068941 20200609 RGD PMID:10417400|REF_RGD_ID:1581746 9042742 Klf5 KLF transcription factor 5 gene DOID:9003936 Cardiomegaly ISO RGD:1551083 D RGD:9068941 20200609 RGD PMID:15098654|REF_RGD_ID:1304323 9042742 Klf5 KLF transcription factor 5 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1345927 D RGD:9068941 20200806 CTD CTD Direct Evidence: therapeutic PMID:32173973 9042742 Klf5 KLF transcription factor 5 gene DOID:9005396 Intimal Hyperplasia ISO RGD:621446 D RGD:9068941 20200609 RGD PMID:11120052|REF_RGD_ID:1581748 9042742 Klf5 KLF transcription factor 5 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1345927 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 9042750 Polk DNA polymerase kappa gene DOID:0070064 autosomal dominant intellectual developmental disorder 34 ISO RGD:1343998 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 34 PMID:25741868 9042750 Polk DNA polymerase kappa gene DOID:10283 prostate cancer ISO RGD:1343998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:25741868|PMID:26046662 9042750 Polk DNA polymerase kappa gene DOID:1059 intellectual disability ISO RGD:1343998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9042750 Polk DNA polymerase kappa gene DOID:10907 microcephaly ISO RGD:1343998 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9042750 Polk DNA polymerase kappa gene DOID:1826 epilepsy ISO RGD:1343998 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26046662 9042750 Polk DNA polymerase kappa gene DOID:3068 glioblastoma ISO RGD:1343998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 9042750 Polk DNA polymerase kappa gene DOID:3323 Sandhoff disease ISO RGD:1343998 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 9042750 Polk DNA polymerase kappa gene DOID:630 genetic disease ISO RGD:1343998 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042750 Polk DNA polymerase kappa gene DOID:9002304 Prostatic Neoplasms ISO RGD:1343998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26046662 9042750 Polk DNA polymerase kappa gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343998 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9042750 Polk DNA polymerase kappa gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1343998 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 9042769 Ocm oncomodulin gene DOID:0070271 Lynch syndrome 1 ISO RGD:737307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:36647049 9042769 Ocm oncomodulin gene DOID:3883 Lynch syndrome ISO RGD:737307 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:10037723|PMID:16338176|PMID:20533529|PMID:21618646|PMID:24440087|PMID:26318770|PMID:28492532 9042769 Ocm oncomodulin gene DOID:630 genetic disease ISO RGD:737307 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042778 Cdk9 cyclin dependent kinase 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 9042778 Cdk9 cyclin dependent kinase 9 gene DOID:0050902 medulloblastoma ISO RGD:1346548 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:31594641 9042778 Cdk9 cyclin dependent kinase 9 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1346548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9042778 Cdk9 cyclin dependent kinase 9 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1346548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9042778 Cdk9 cyclin dependent kinase 9 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1346548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 9042778 Cdk9 cyclin dependent kinase 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346548 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 9042778 Cdk9 cyclin dependent kinase 9 gene DOID:6000 congestive heart failure ISO RGD:1346548 D RGD:9068941 20200609 RGD protein:increased activity:ventricle: PMID:15297879|REF_RGD_ID:1556509 9042778 Cdk9 cyclin dependent kinase 9 gene DOID:6000 congestive heart failure ISO RGD:1552365 D RGD:9068941 20200609 RGD protein:increased activity:heart: PMID:15297879|REF_RGD_ID:1556509 9042778 Cdk9 cyclin dependent kinase 9 gene DOID:630 genetic disease ISO RGD:1346548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042778 Cdk9 cyclin dependent kinase 9 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1359638 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver: PMID:20828602|REF_RGD_ID:9698426 9042789 Inpp5a inositol polyphosphate-5-phosphatase A gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1314631 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 9042789 Inpp5a inositol polyphosphate-5-phosphatase A gene DOID:1749 squamous cell carcinoma ISO RGD:1314631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25759212 9042789 Inpp5a inositol polyphosphate-5-phosphatase A gene DOID:37 skin disease ISO RGD:1314631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25759212 9042789 Inpp5a inositol polyphosphate-5-phosphatase A gene DOID:5419 schizophrenia ISO RGD:1314631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 9042789 Inpp5a inositol polyphosphate-5-phosphatase A gene DOID:630 genetic disease ISO RGD:1314631 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042789 Inpp5a inositol polyphosphate-5-phosphatase A gene DOID:9007964 Arsenic Poisoning ISO RGD:1314631 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25759212 9042815 Spag9 sperm associated antigen 9 gene DOID:1380 endometrial cancer ISO RGD:1322667 D RGD:9068941 20200613 RGD protein:increased expression:serum: PMID:24460345|REF_RGD_ID:30296659 9042815 Spag9 sperm associated antigen 9 gene DOID:5082 liver cirrhosis ISO RGD:1322667 D RGD:9068941 20200613 RGD associated with Human Viral Hepatitis PMID:29344208|REF_RGD_ID:30296654 9042815 Spag9 sperm associated antigen 9 gene DOID:630 genetic disease ISO RGD:1322667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042815 Spag9 sperm associated antigen 9 gene DOID:684 hepatocellular carcinoma ISO RGD:1322667 D RGD:9068941 20200613 RGD associated with Human Viral Hepatitis PMID:29344208|REF_RGD_ID:30296654 9042815 Spag9 sperm associated antigen 9 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1322667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9042883 Rcan2 regulator of calcineurin 2 gene DOID:630 genetic disease ISO RGD:69211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042916 Slc6a18 solute carrier family 6 member 18 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1346320 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 9042916 Slc6a18 solute carrier family 6 member 18 gene DOID:0070016 autosomal dominant dyskeratosis congenita 2 ISO RGD:1346320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532 9042916 Slc6a18 solute carrier family 6 member 18 gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1346320 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 9042916 Slc6a18 solute carrier family 6 member 18 gene DOID:10763 hypertension ISO RGD:1346320 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15121838 9042916 Slc6a18 solute carrier family 6 member 18 gene DOID:630 genetic disease ISO RGD:1346320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042959 Pappa pappalysin 1 gene DOID:0110581 autosomal dominant nonsyndromic deafness 56 ISO RGD:1317112 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 56 PMID:21681106|PMID:23936043 9042959 Pappa pappalysin 1 gene DOID:10763 hypertension ISO RGD:1317112 D RGD:9068941 20200609 RGD associated with Pregnancy Complications, Cardiovascular;protein:decreased expression:serum PMID:12224070|REF_RGD_ID:1642331 9042959 Pappa pappalysin 1 gene DOID:2349 arteriosclerosis ISO RGD:1317112 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:16614002|REF_RGD_ID:1642326 9042959 Pappa pappalysin 1 gene DOID:2349 arteriosclerosis ISO RGD:1317113 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:17510462|REF_RGD_ID:1642325 9042959 Pappa pappalysin 1 gene DOID:289 endometriosis ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21063030 9042959 Pappa pappalysin 1 gene DOID:3393 coronary artery disease ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 9042959 Pappa pappalysin 1 gene DOID:3393 coronary artery disease severity ISO RGD:1317112 D RGD:9068941 20200609 RGD PMID:16055491|REF_RGD_ID:1642327 9042959 Pappa pappalysin 1 gene DOID:3407 carotid artery disease ISO RGD:1317112 D RGD:9068941 20200609 RGD associated with Hyperlipidemia;protein:increased expression:serum PMID:12524241|REF_RGD_ID:1642330 9042959 Pappa pappalysin 1 gene DOID:5844 myocardial infarction ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 9042959 Pappa pappalysin 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1317112 D RGD:9068941 20200609 RGD DNA:polymorphism:intron PMID:17700210|REF_RGD_ID:1642324 9042959 Pappa pappalysin 1 gene DOID:630 genetic disease ISO RGD:1317112 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042959 Pappa pappalysin 1 gene DOID:8805 intermediate coronary syndrome ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 9042959 Pappa pappalysin 1 gene DOID:90 degenerative disc disease ISO RGD:1317112 D RGD:9068941 20200609 RGD protein:increased expression:vertebral disc: PMID:18552658|REF_RGD_ID:10412724 9042959 Pappa pappalysin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1317112 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;protein:increased expression:serum PMID:15531533|REF_RGD_ID:1642328 9042959 Pappa pappalysin 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:1317112 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14661010|REF_RGD_ID:1642329 9042959 Pappa pappalysin 1 gene DOID:9000888 Pregnancy in Diabetics ISO RGD:1317112 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:serum PMID:9512318|REF_RGD_ID:2313777 9042959 Pappa pappalysin 1 gene DOID:9001686 Acute Coronary Syndrome ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11586954 9042959 Pappa pappalysin 1 gene DOID:9007456 Female Infertility ISO RGD:1317112 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20130263 9042959 Pappa pappalysin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1317112 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:17728480|REF_RGD_ID:2313776 9042985 Mob1a MOB kinase activator 1A gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1315956 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 9042985 Mob1a MOB kinase activator 1A gene DOID:543 dystonia ISO RGD:1315956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9042985 Mob1a MOB kinase activator 1A gene DOID:630 genetic disease ISO RGD:1315956 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9042985 Mob1a MOB kinase activator 1A gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1315956 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9042999 Dnai2 dynein axonemal intermediate chain 2 gene DOID:0050144 Kartagener syndrome ISO RGD:1615480 D RGD:9068941 20221013 MouseDO 9042999 Dnai2 dynein axonemal intermediate chain 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347605 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9042999 Dnai2 dynein axonemal intermediate chain 2 gene DOID:0110622 primary ciliary dyskinesia 9 ISO RGD:1347605 D RGD:7240710 20180130 OMIM 9042999 Dnai2 dynein axonemal intermediate chain 2 gene DOID:0110622 primary ciliary dyskinesia 9 ISO RGD:1347605 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: DNAI2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 9 PMID:16199547|PMID:17576681|PMID:18950741|PMID:20301301|PMID:23261302|PMID:23891469|PMID:24033266|PMID:25741868|PMID:25802884|PMID:28492532|PMID:33447612|PMID:35728977|PMID:9536098 9042999 Dnai2 dynein axonemal intermediate chain 2 gene DOID:630 genetic disease ISO RGD:1347605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9042999 Dnai2 dynein axonemal intermediate chain 2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1347605 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18950741|PMID:20301301|PMID:23261302|PMID:23891469|PMID:24033266|PMID:24498942|PMID:25640679|PMID:25741868|PMID:25802884|PMID:28492532|PMID:31681265|PMID:32253119|PMID:33447612|PMID:35728977|PMID:36303540|PMID:9536098 9043021 Syce3 synaptonemal complex central element protein 3 gene DOID:0060041 autism spectrum disorder ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 9043021 Syce3 synaptonemal complex central element protein 3 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:2303881 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 9043021 Syce3 synaptonemal complex central element protein 3 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9043021 Syce3 synaptonemal complex central element protein 3 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 9043021 Syce3 synaptonemal complex central element protein 3 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:2303881 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 9043021 Syce3 synaptonemal complex central element protein 3 gene DOID:10581 metachromatic leukodystrophy ISO RGD:2303881 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 9043021 Syce3 synaptonemal complex central element protein 3 gene DOID:1059 intellectual disability ISO RGD:2303881 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9043021 Syce3 synaptonemal complex central element protein 3 gene DOID:630 genetic disease ISO RGD:2303881 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043035 Pik3c2a phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:1059 intellectual disability ISO RGD:1321266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9043035 Pik3c2a phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:630 genetic disease ISO RGD:1321266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9043035 Pik3c2a phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:9006582 Oculoskeletodental Syndrome ISO RGD:1321266 D RGD:7240710 20190626 OMIM 9043035 Pik3c2a phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:9006582 Oculoskeletodental Syndrome ISO RGD:1321266 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES PMID:25741868|PMID:28492532|PMID:31034465 9043035 Pik3c2a phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:9007661 Dwarfism ISO RGD:1321266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:31034465 9043035 Pik3c2a phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha gene DOID:9352 type 2 diabetes mellitus ISO RGD:1321266 D RGD:9068941 20200609 RGD mRNA:decreased expression:Islets of Langerhans PMID:21127054|REF_RGD_ID:7243008 9043078 Ube2g2 ubiquitin conjugating enzyme E2 G2 gene DOID:0050167 autoimmune polyendocrine syndrome type 1 ISO RGD:1312541 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 9043078 Ube2g2 ubiquitin conjugating enzyme E2 G2 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1312541 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 9043078 Ube2g2 ubiquitin conjugating enzyme E2 G2 gene DOID:0110266 cataract 9 multiple types ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 9043078 Ube2g2 ubiquitin conjugating enzyme E2 G2 gene DOID:12849 autistic disorder ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9043078 Ube2g2 ubiquitin conjugating enzyme E2 G2 gene DOID:630 genetic disease ISO RGD:1312541 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043078 Ube2g2 ubiquitin conjugating enzyme E2 G2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1312541 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 9043078 Ube2g2 ubiquitin conjugating enzyme E2 G2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9043078 Ube2g2 ubiquitin conjugating enzyme E2 G2 gene DOID:9263 homocystinuria ISO RGD:1312541 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 9043078 Ube2g2 ubiquitin conjugating enzyme E2 G2 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1312541 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9043088 Ldlrad4 low density lipoprotein receptor class A domain containing 4 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1313099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 9043088 Ldlrad4 low density lipoprotein receptor class A domain containing 4 gene DOID:1059 intellectual disability ISO RGD:1313099 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9043088 Ldlrad4 low density lipoprotein receptor class A domain containing 4 gene DOID:630 genetic disease ISO RGD:1313099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043099 Wbp2 WW domain binding protein 2 gene DOID:0080262 autosomal recessive nonsyndromic deafness 107 ISO RGD:1348215 D RGD:7240710 20190315 OMIM 9043099 Wbp2 WW domain binding protein 2 gene DOID:0080262 autosomal recessive nonsyndromic deafness 107 ISO RGD:1348215 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 107 PMID:25741868|PMID:26881968|PMID:28492532 9043099 Wbp2 WW domain binding protein 2 gene DOID:630 genetic disease ISO RGD:1348215 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9043111 Col23a1 collagen type XXIII alpha 1 chain gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 9043111 Col23a1 collagen type XXIII alpha 1 chain gene DOID:0060071 pre-malignant neoplasm ISO RGD:1353219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 9043111 Col23a1 collagen type XXIII alpha 1 chain gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1353219 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9043111 Col23a1 collagen type XXIII alpha 1 chain gene DOID:14748 Sotos syndrome ISO RGD:1353219 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9043111 Col23a1 collagen type XXIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1353219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043111 Col23a1 collagen type XXIII alpha 1 chain gene DOID:9005539 Familial Prostate Cancer ISO RGD:1353219 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 9043144 Cdr2 cerebellar degeneration related protein 2 gene DOID:0060399 chromosome 16p12.1 deletion syndrome ISO RGD:1321565 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb PMID:25741868 9043144 Cdr2 cerebellar degeneration related protein 2 gene DOID:12849 autistic disorder ISO RGD:1321565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9043144 Cdr2 cerebellar degeneration related protein 2 gene DOID:5419 schizophrenia ISO RGD:1321565 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9043144 Cdr2 cerebellar degeneration related protein 2 gene DOID:630 genetic disease ISO RGD:1321565 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043153 Gpr176 G protein-coupled receptor 176 gene DOID:2717 Bloom syndrome ISO RGD:737562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9043153 Gpr176 G protein-coupled receptor 176 gene DOID:630 genetic disease ISO RGD:737562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043153 Gpr176 G protein-coupled receptor 176 gene DOID:9256 colorectal cancer ISO RGD:737562 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9043166 LOC102014349 olfactory receptor 2D3 gene DOID:630 genetic disease ISO RGD:1354348 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:1352880 D RGD:8554872 20230627 ClinVar ClinVar Annotator: match by term: COL6A1-related Disorder 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:1352880 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:10419498|PMID:11707460|PMID:12840783|PMID:15689448|PMID:15955946|PMID:16088929|PMID:16130093|PMID:16199547|PMID:17015493|PMID:17576681|PMID:17785673|PMID:17785674|PMID:17886299|PMID:18366090|PMID:18414213|PMID:18642359|PMID:18825676|PMID:19204719|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20302629|PMID:20882040|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24223098|PMID:24271325|PMID:24801232|PMID:24959844|PMID:25741868|PMID:25749816|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27708273|PMID:27854213|PMID:27884173|PMID:28182637|PMID:28492532|PMID:29419890|PMID:30564623|PMID:32154989|PMID:34008892|PMID:34167565|PMID:7551830|PMID:7695699|PMID:8218237|PMID:8730294|PMID:9536098|PMID:9724608 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1352880 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:0110266 cataract 9 multiple types ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:12849 autistic disorder ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1352880 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:423 myopathy ISO RGD:1352880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy PMID:16199547|PMID:18366090|PMID:20976770|PMID:21280092|PMID:25635128|PMID:25741868|PMID:27854213|PMID:28492532|PMID:28771251 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:630 genetic disease ISO RGD:1352880 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15689448|PMID:15955946|PMID:18825676|PMID:19204719|PMID:19344236|PMID:20576434|PMID:24038877|PMID:25741868|PMID:26467025|PMID:27363342|PMID:27708273|PMID:28182637|PMID:28492532|PMID:34167565|PMID:7695699|PMID:8218237|PMID:9724608 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:891 progressive myoclonus epilepsy ISO RGD:1352880 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9000534 Ullrich Congenital Muscular Dystrophy 1 ISO RGD:1352880 D RGD:7240710 20230621 OMIM 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9000534 Ullrich Congenital Muscular Dystrophy 1 ISO RGD:1352880 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant PMID:15689448|PMID:16088929|PMID:16130093|PMID:16935502|PMID:17015493|PMID:17785673|PMID:17785674|PMID:17886299|PMID:18160674|PMID:18414213|PMID:18642359|PMID:18825676|PMID:19204719|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20576434|PMID:20882040|PMID:20976770|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23572247|PMID:24038877|PMID:24223098|PMID:24801232|PMID:24959844|PMID:25741868|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27708273|PMID:27854213|PMID:28182637|PMID:28424332|PMID:28492532|PMID:30895940|PMID:32154989|PMID:34008892|PMID:34167565|PMID:7551830|PMID:7695699|PMID:8218237|PMID:8730294|PMID:9724608 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1352880 D RGD:7240710 20190327 OMIM 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1 susceptibility ISO RGD:1352880 D RGD:9068941 20200609 RGD Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) PMID:8782832|REF_RGD_ID:1600934 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9001550 Bethlem Myopathy 1A ISO RGD:1352880 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: COL6A1-related condition PMID:10329467|PMID:10419498|PMID:11707460|PMID:11865138|PMID:11932968|PMID:12840783|PMID:15563506|PMID:15689448|PMID:15955946|PMID:16088929|PMID:16130093|PMID:16199547|PMID:16278855|PMID:16935502|PMID:17015493|PMID:17576681|PMID:17785673|PMID:17785674|PMID:1788629|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18642359|PMID:18825676|PMID:19204719|PMID:19344236|PMID:19564581|PMID:19884007|PMID:20301468|PMID:20301676|PMID:20302629|PMID:20576434|PMID:20882040|PMID:20976770|PMID:20981092|PMID:21280092|PMID:21520333|PMID:21943391|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23040494|PMID:23326386|PMID:23572247|PMID:23738969|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24223098|PMID:24271325|PMID:24801232|PMID:24959844|PMID:25204870|PMID:25535305|PMID:25635128|PMID:25640679|PMID:25741868|PMID:25749816|PMID:25978941|PMID:26436962|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28182637|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28771251|PMID:28831785|PMID:28877744|PMID:28984114|PMID:29382405|PMID:29406609|PMID:29417091|PMID:29419890|PMID:30564623|PMID:30706156|PMID:30895940|PMID:31130284|PMID:31273343|PMID:31589614|PMID:32065942|PMID:32154989|PMID:32389683|PMID:32403337|PMID:32528171|PMID:33250842|PMID:34008892|PMID:34167565|PMID:7551830|PMID:7695699|PMID:7881296|PMID:8218237|PMID:8268929|PMID:8730294|PMID:8782832|PMID:9536098|PMID:9580662|PMID:9724608 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9005172 Lung Neoplasms ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23692979 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9007913 Collagen VI-related Myopathy ISO RGD:1352880 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:11707460|PMID:15689448|PMID:15955946|PMID:16088929|PMID:16130093|PMID:17015493|PMID:17576681|PMID:17785673|PMID:17785674|PMID:18378883|PMID:18414213|PMID:18642359|PMID:18825676|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20302629|PMID:20882040|PMID:20976770|PMID:20981092|PMID:22075033|PMID:22789865|PMID:22975586|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24223098|PMID:24801232|PMID:24959844|PMID:25741868|PMID:26467025|PMID:26867126|PMID:27363342|PMID:27854213|PMID:27884173|PMID:28492532|PMID:28831785|PMID:30564623|PMID:32154989|PMID:32389683|PMID:34008892|PMID:34167565|PMID:7551830|PMID:7695699|PMID:8218237|PMID:8730294|PMID:9536098 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9263 homocystinuria ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9277 primary cerebellar degeneration ISO RGD:1352880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorimotor neuropathy PMID:10419498|PMID:12840783|PMID:15955946|PMID:16199547|PMID:17886299|PMID:18366090|PMID:20301676|PMID:20976770|PMID:21280092|PMID:24271325|PMID:25741868|PMID:25749816|PMID:28492532|PMID:29419890 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9562 primary ciliary dyskinesia ISO RGD:1352880 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9775 diastolic heart failure ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 9043169 Col6a1 collagen type VI alpha 1 chain gene DOID:9884 muscular dystrophy ISO RGD:1352880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20716577 9043215 Pudp pseudouridine 5'-phosphatase gene DOID:12849 autistic disorder ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9043215 Pudp pseudouridine 5'-phosphatase gene DOID:13938 amenorrhea ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9043215 Pudp pseudouridine 5'-phosphatase gene DOID:1700 X-linked ichthyosis ISO RGD:1344399 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Recessive X-linked ichthyosis PMID:18413370|PMID:3007328|PMID:31690835|PMID:7208152 9043215 Pudp pseudouridine 5'-phosphatase gene DOID:1969 cerebral palsy ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 9043215 Pudp pseudouridine 5'-phosphatase gene DOID:5419 schizophrenia ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9043215 Pudp pseudouridine 5'-phosphatase gene DOID:543 dystonia ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 9043215 Pudp pseudouridine 5'-phosphatase gene DOID:630 genetic disease ISO RGD:1344399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043215 Pudp pseudouridine 5'-phosphatase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9043223 Col13a1 collagen type XIII alpha 1 chain gene DOID:0110673 congenital myasthenic syndrome 19 ISO RGD:1607090 D RGD:7240710 20180130 OMIM 9043223 Col13a1 collagen type XIII alpha 1 chain gene DOID:0110673 congenital myasthenic syndrome 19 ISO RGD:1607090 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COL13A1-related condition | ClinVar Annotator: match by term: Congenital myasthenic syndrome 19 PMID:16199547|PMID:17576681|PMID:25741868|PMID:26626625|PMID:28492532|PMID:30767057|PMID:31081514|PMID:9536098 9043223 Col13a1 collagen type XIII alpha 1 chain gene DOID:3635 congenital myasthenic syndrome ISO RGD:1607090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9043223 Col13a1 collagen type XIII alpha 1 chain gene DOID:630 genetic disease ISO RGD:1607090 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9043223 Col13a1 collagen type XIII alpha 1 chain gene DOID:9003281 Spontaneous Abortions ISO RGD:1607090 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9043291 Xpnpep1 X-prolyl aminopeptidase 1 gene DOID:630 genetic disease ISO RGD:733430 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043330 Plppr3 phospholipid phosphatase related 3 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1602461 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 9043330 Plppr3 phospholipid phosphatase related 3 gene DOID:5339 cyclic hematopoiesis ISO RGD:1602461 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 9043330 Plppr3 phospholipid phosphatase related 3 gene DOID:630 genetic disease ISO RGD:1602461 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043353 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 9043353 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 9043353 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 9043353 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:1148 polydactyly ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 9043353 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 9043353 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:630 genetic disease ISO RGD:1343498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043353 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9043353 Cnppd1 cyclin Pas1/PHO80 domain containing 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1343498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 9043370 Il18rap interleukin 18 receptor accessory protein gene DOID:0050589 inflammatory bowel disease ISO RGD:1315691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21983784 9043370 Il18rap interleukin 18 receptor accessory protein gene DOID:0080685 aortic dissection ISO RGD:1315691 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ascending aortic dissection PMID:34409081 9043370 Il18rap interleukin 18 receptor accessory protein gene DOID:630 genetic disease ISO RGD:1315691 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043370 Il18rap interleukin 18 receptor accessory protein gene DOID:8577 ulcerative colitis ISO RGD:1315691 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20228799 9043370 Il18rap interleukin 18 receptor accessory protein gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1315691 D RGD:9068941 20200609 RGD DNA:SNP: :rs1420106 (human) PMID:18774397|REF_RGD_ID:5024946 9043370 Il18rap interleukin 18 receptor accessory protein gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1315692 D RGD:9068941 20200609 RGD PMID:19164288|REF_RGD_ID:4889578 9043386 F13b coagulation factor XIII B chain gene DOID:0060903 thrombosis ISO RGD:1323246 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 9043386 F13b coagulation factor XIII B chain gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1323246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 9043386 F13b coagulation factor XIII B chain gene DOID:1540 parathyroid carcinoma ISO RGD:1323246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9043386 F13b coagulation factor XIII B chain gene DOID:2211 factor XIII deficiency ISO RGD:1323246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease PMID:22353194|PMID:25044882|PMID:25741868|PMID:28399723|PMID:28748566 9043386 F13b coagulation factor XIII B chain gene DOID:630 genetic disease ISO RGD:1323246 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043386 F13b coagulation factor XIII B chain gene DOID:869 cholesteatoma ISO RGD:1323246 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Cholesteatoma 9043386 F13b coagulation factor XIII B chain gene DOID:9003871 Venous Thrombosis ISO RGD:1323246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Venous thrombosis, susceptibility to PMID:12456499|PMID:16241947|PMID:25741868 9043386 F13b coagulation factor XIII B chain gene DOID:9008281 Factor XIII, B Subunit, Deficiency Of ISO RGD:1323246 D RGD:7240710 20180130 OMIM 9043386 F13b coagulation factor XIII B chain gene DOID:9008281 Factor XIII, B Subunit, Deficiency Of ISO RGD:1323246 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of PMID:11313256|PMID:12456499|PMID:14695539|PMID:16241947|PMID:20331752|PMID:22353194|PMID:2334637|PMID:25044882|PMID:25741868|PMID:28399723|PMID:28492532|PMID:28748566|PMID:31064749|PMID:34355501|PMID:8324218|PMID:8639893 9043386 F13b coagulation factor XIII B chain gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1323246 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9043427 Cry1 cryptochrome circadian regulator 1 gene DOID:0050628 advanced sleep phase syndrome ISO RGD:1353919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9043427 Cry1 cryptochrome circadian regulator 1 gene DOID:0080600 COVID-19 ISO RGD:1353919 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9043427 Cry1 cryptochrome circadian regulator 1 gene DOID:0111141 delayed sleep phase syndrome ISO RGD:1353919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to PMID:28388406|PMID:32538895 9043427 Cry1 cryptochrome circadian regulator 1 gene DOID:0111141 delayed sleep phase syndrome susceptibility ISO RGD:1353919 D RGD:7240710 20220824 OMIM 9043427 Cry1 cryptochrome circadian regulator 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1353919 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Attention deficit hyperactivity disorder PMID:28388406|PMID:32538895 9043427 Cry1 cryptochrome circadian regulator 1 gene DOID:630 genetic disease ISO RGD:1353919 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043427 Cry1 cryptochrome circadian regulator 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:1353919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16999817 9043427 Cry1 cryptochrome circadian regulator 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1353919 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9043427 Cry1 cryptochrome circadian regulator 1 gene DOID:9002735 alcohol withdrawal syndrome severity ISO RGD:1353919 D RGD:9068941 20240302 RGD mRNA:decreased expression:peripheral blood mononuclear cells (human) PMID:20735373|REF_RGD_ID:401976556 9043445 CUNH2orf68 chromosome unknown C2orf68 homolog gene DOID:0110782 hereditary spastic paraplegia 31 ISO RGD:1606379 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:18321925|PMID:18644145|PMID:22062632|PMID:22703882|PMID:24986827|PMID:28492532 9043445 CUNH2orf68 chromosome unknown C2orf68 homolog gene DOID:630 genetic disease ISO RGD:1606379 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043453 Wdr20 WD repeat domain 20 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1315150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 9043453 Wdr20 WD repeat domain 20 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1315150 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 9043453 Wdr20 WD repeat domain 20 gene DOID:630 genetic disease ISO RGD:1315150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043490 Brsk1 BR serine/threonine kinase 1 gene DOID:630 genetic disease ISO RGD:1353238 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043516 Nip7 nucleolar pre-rRNA processing protein NIP7 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:732109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9043516 Nip7 nucleolar pre-rRNA processing protein NIP7 gene DOID:630 genetic disease ISO RGD:732109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:0060883 intestinal hypomagnesemia 1 ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ISO RGD:1353386 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Guam disease PMID:25741868|PMID:28492532 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 no_association ISO RGD:1353386 D RGD:9068941 20200609 RGD DNA:mutation:cds: p.T1482I (human) PMID:19405049|REF_RGD_ID:5685008 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 susceptibility ISO RGD:1353386 D RGD:7240710 20190502 OMIM 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:2717 Bloom syndrome ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:2914 immune system disease ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30770447 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to PMID:16051700|PMID:19405049|PMID:25741868 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:5082 liver cirrhosis ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25150141 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:630 genetic disease ISO RGD:1353386 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:657 adenoma ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17823441 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:9000276 Juvenile Amyotrophic Lateral Sclerosis ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis PMID:16051700|PMID:19405049|PMID:25741868 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:9002315 Kidney Calculi ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24291744 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:9004009 Reperfusion Injury ISO RGD:620053 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:hippocampus PMID:18395621|REF_RGD_ID:5684390 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:9004271 Colonic Polyps ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17823441 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30710498 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:9005246 Paralysis ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24291744 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:9006030 Infant Death ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30770447 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1353386 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17823441 9043529 Trpm7 transient receptor potential cation channel subfamily M member 7 gene DOID:9256 colorectal cancer ISO RGD:1353386 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9043591 Tmem219 transmembrane protein 219 gene DOID:0060019 coronin-1A deficiency ISO RGD:1604542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 8 PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 9043591 Tmem219 transmembrane protein 219 gene DOID:0060041 autism spectrum disorder ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 9043591 Tmem219 transmembrane protein 219 gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:1604542 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 9043591 Tmem219 transmembrane protein 219 gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1604542 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 9043591 Tmem219 transmembrane protein 219 gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:1604542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 9043591 Tmem219 transmembrane protein 219 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1604542 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 9043591 Tmem219 transmembrane protein 219 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1604542 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 9043591 Tmem219 transmembrane protein 219 gene DOID:12849 autistic disorder ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9043591 Tmem219 transmembrane protein 219 gene DOID:5419 schizophrenia ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9043591 Tmem219 transmembrane protein 219 gene DOID:630 genetic disease ISO RGD:1604542 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043591 Tmem219 transmembrane protein 219 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604542 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9043591 Tmem219 transmembrane protein 219 gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:1604542 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 9043631 Prss16 serine protease 16 gene DOID:630 genetic disease ISO RGD:1315387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043643 Lnx2 ligand of numb-protein X 2 gene DOID:630 genetic disease ISO RGD:1317872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043677 Mpp2 MAGUK p55 scaffold protein 2 gene DOID:630 genetic disease ISO RGD:1346408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043692 Tafa3 TAFA chemokine like family member 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1617223 D RGD:9068941 20220825 MouseDO 9043692 Tafa3 TAFA chemokine like family member 3 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1354085 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 9043692 Tafa3 TAFA chemokine like family member 3 gene DOID:13938 amenorrhea ISO RGD:1354085 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9043692 Tafa3 TAFA chemokine like family member 3 gene DOID:630 genetic disease ISO RGD:1354085 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043713 Zwint ZW10 interacting kinetochore protein gene DOID:0080600 COVID-19 ISO RGD:1347195 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9043713 Zwint ZW10 interacting kinetochore protein gene DOID:630 genetic disease ISO RGD:1347195 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043713 Zwint ZW10 interacting kinetochore protein gene DOID:684 hepatocellular carcinoma ISO RGD:1347195 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9043725 Mad2l2 mitotic arrest deficient 2 like 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1316729 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 9043725 Mad2l2 mitotic arrest deficient 2 like 2 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1316729 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9043725 Mad2l2 mitotic arrest deficient 2 like 2 gene DOID:0111080 Fanconi anemia complementation group V ISO RGD:1316729 D RGD:7240710 20190315 OMIM 9043725 Mad2l2 mitotic arrest deficient 2 like 2 gene DOID:0111080 Fanconi anemia complementation group V ISO RGD:1316729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group V PMID:27500492 9043725 Mad2l2 mitotic arrest deficient 2 like 2 gene DOID:630 genetic disease ISO RGD:1316729 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043725 Mad2l2 mitotic arrest deficient 2 like 2 gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1316729 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 9043737 Sdk1 sidekick cell adhesion molecule 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9043737 Sdk1 sidekick cell adhesion molecule 1 gene DOID:10283 prostate cancer ISO RGD:1352696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9043737 Sdk1 sidekick cell adhesion molecule 1 gene DOID:11372 megacolon ISO RGD:1352696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9043737 Sdk1 sidekick cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1352696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043790 Rsph1 radial spoke head component 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1317061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:25789548|PMID:26139845|PMID:28492532 9043790 Rsph1 radial spoke head component 1 gene DOID:0050861 colorectal adenocarcinoma susceptibility ISO RGD:1317061 D RGD:9068941 20220513 RGD DNA:SNP:3'utr: (rs2839531) T>C (human) PMID:27354594|REF_RGD_ID:152177496 9043790 Rsph1 radial spoke head component 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1317061 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 9043790 Rsph1 radial spoke head component 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1317061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 9043790 Rsph1 radial spoke head component 1 gene DOID:0110628 primary ciliary dyskinesia 24 ISO RGD:1317061 D RGD:7240710 20180130 OMIM 9043790 Rsph1 radial spoke head component 1 gene DOID:0110628 primary ciliary dyskinesia 24 ISO RGD:1317061 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 24 PMID:17576681|PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:25789548|PMID:26139845|PMID:28492532|PMID:31772028|PMID:9536098 9043790 Rsph1 radial spoke head component 1 gene DOID:630 genetic disease ISO RGD:1317061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9043790 Rsph1 radial spoke head component 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1317061 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 9043790 Rsph1 radial spoke head component 1 gene DOID:9263 homocystinuria ISO RGD:1317061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 9043790 Rsph1 radial spoke head component 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317061 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:25789548|PMID:26139845|PMID:28492532|PMID:31772028|PMID:9536098 9043813 Niban3 niban apoptosis regulator 3 gene DOID:630 genetic disease ISO RGD:1604724 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043852 Zcchc9 zinc finger CCHC-type containing 9 gene DOID:630 genetic disease ISO RGD:1316648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043852 Zcchc9 zinc finger CCHC-type containing 9 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9043870 Pop7 POP7 homolog, ribonuclease P/MRP subunit gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9043870 Pop7 POP7 homolog, ribonuclease P/MRP subunit gene DOID:630 genetic disease ISO RGD:1315010 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043877 Znf70 zinc finger protein 70 gene DOID:0081135 agammaglobulinemia 2 ISO RGD:1351626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 9043877 Znf70 zinc finger protein 70 gene DOID:1826 epilepsy ISO RGD:1351626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9043877 Znf70 zinc finger protein 70 gene DOID:5419 schizophrenia ISO RGD:1351626 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9043877 Znf70 zinc finger protein 70 gene DOID:630 genetic disease ISO RGD:1351626 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043884 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:732173 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 9043884 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:0070168 spermatogenic failure 3 ISO RGD:732173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:24934491|PMID:25741868|PMID:28492532|PMID:31479588 9043884 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:0080545 hyper IgE syndrome ISO RGD:732173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:28492532 9043884 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:732173 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS PMID:28492532 9043884 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:0111771 46,XY sex reversal 4 ISO RGD:732173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 4 PMID:25741868 9043884 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:14448 46,XY sex reversal ISO RGD:732173 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY PMID:25741868 9043884 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:630 genetic disease ISO RGD:732173 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043884 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:732173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 9043884 Dmrt1 doublesex and mab-3 related transcription factor 1 gene DOID:9004207 Testicular Neoplasms ISO RGD:732173 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20543847 9043893 FAT1 FAT atypical cadherin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732531 D RGD:9068941 20220204 RGD PMID:24590895|REF_RGD_ID:151347630 9043893 Fat1 FAT atypical cadherin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:732532 D RGD:9068941 20220204 RGD protein:increased expression:tongue (mouse) PMID:30624777|REF_RGD_ID:151347668 9043893 Fat1 FAT atypical cadherin 1 gene DOID:0050866 oral squamous cell carcinoma onset ISO RGD:732531 D RGD:9068941 20220204 RGD DNA:mutations:multiple PMID:28435450|REF_RGD_ID:151347687 9043893 Fat1 FAT atypical cadherin 1 gene DOID:0060673 Peters anomaly ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:26893459|PMID:28492532 9043893 Fat1 FAT atypical cadherin 1 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9043893 Fat1 FAT atypical cadherin 1 gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome 9043893 Fat1 FAT atypical cadherin 1 gene DOID:11727 facioscapulohumeral muscular dystrophy ISO RGD:732532 D RGD:9068941 20220825 MouseDO OMIM:158900 | OMIM:158901 9043893 Fat1 FAT atypical cadherin 1 gene DOID:1184 nephrotic syndrome ISO RGD:732531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:26905694|PMID:28492532 9043893 Fat1 FAT atypical cadherin 1 gene DOID:12849 autistic disorder ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9043893 Fat1 FAT atypical cadherin 1 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:732531 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:26489027|PMID:28492532 9043893 Fat1 FAT atypical cadherin 1 gene DOID:2229 factor XI deficiency ISO RGD:732531 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 9043893 Fat1 FAT atypical cadherin 1 gene DOID:3068 glioblastoma ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354438 9043893 Fat1 FAT atypical cadherin 1 gene DOID:3151 skin squamous cell carcinoma disease_progression ISO RGD:732532 D RGD:9068941 20220128 RGD associated with Neoplasm Metastasis PMID:33328637|REF_RGD_ID:151347447 9043893 Fat1 FAT atypical cadherin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 9043893 Fat1 FAT atypical cadherin 1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732531 D RGD:9068941 20220204 RGD protein:decreased expression:esophagus squamous epithelium (human) PMID:29365412|REF_RGD_ID:151347646 9043893 Fat1 FAT atypical cadherin 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:732531 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34390292 9043893 Fat1 FAT atypical cadherin 1 gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:732531 D RGD:9068941 20220204 RGD PMID:31085721|REF_RGD_ID:151347689 9043893 Fat1 FAT atypical cadherin 1 gene DOID:5409 lung small cell carcinoma ISO RGD:732531 D RGD:9068941 20220204 RGD DNA:mutations:multiple (human) PMID:31199602|REF_RGD_ID:150429733 9043893 Fat1 FAT atypical cadherin 1 gene DOID:630 genetic disease ISO RGD:732531 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9043893 Fat1 FAT atypical cadherin 1 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:732531 D RGD:9068941 20220204 RGD mRNA,protein:increased expression:liver (human) PMID:24590895|REF_RGD_ID:151347630 9043893 Fat1 FAT atypical cadherin 1 gene DOID:9000918 Disease Progression ISO RGD:732531 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34390292 9043893 Fat1 FAT atypical cadherin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9043893 Fat1 FAT atypical cadherin 1 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9043893 Fat1 FAT atypical cadherin 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354438 9043893 Fat1 FAT atypical cadherin 1 gene DOID:9006836 Contracture ISO RGD:732531 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Contractures PMID:26489027|PMID:28492532 9043893 Fat1 FAT atypical cadherin 1 gene DOID:9007428 Muscle Spasticity ISO RGD:732531 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868 9043893 Fat1 FAT atypical cadherin 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:732531 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23354438 9043893 Fat1 FAT atypical cadherin 1 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:732531 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 9043893 Fat1 FAT atypical cadherin 1 gene DOID:9256 colorectal cancer sexual_dimorphism ISO RGD:732531 D RGD:9068941 20220204 RGD left-sided colorectal cancer;DNA:mutations:multiple (human) PMID:33106877|REF_RGD_ID:150539450 9043893 Fat1 FAT atypical cadherin 1 gene DOID:9538 multiple myeloma ISO RGD:732531 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 9043935 Eva1a eva-1 homolog A, regulator of programmed cell death gene DOID:630 genetic disease ISO RGD:1604577 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043964 Dhx29 DExH-box helicase 29 gene DOID:10283 prostate cancer ISO RGD:1318664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9043964 Dhx29 DExH-box helicase 29 gene DOID:630 genetic disease ISO RGD:1318664 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9043964 Dhx29 DExH-box helicase 29 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318664 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9043997 Ms4a7 membrane spanning 4-domains A7 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1313641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9043997 Ms4a7 membrane spanning 4-domains A7 gene DOID:1059 intellectual disability ISO RGD:1313641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9043997 Ms4a7 membrane spanning 4-domains A7 gene DOID:630 genetic disease ISO RGD:1313641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044007 Spatc1l spermatogenesis and centriole associated 1 like gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1344058 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 9044007 Spatc1l spermatogenesis and centriole associated 1 like gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 9044007 Spatc1l spermatogenesis and centriole associated 1 like gene DOID:0110266 cataract 9 multiple types ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 9044007 Spatc1l spermatogenesis and centriole associated 1 like gene DOID:12849 autistic disorder ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9044007 Spatc1l spermatogenesis and centriole associated 1 like gene DOID:630 genetic disease ISO RGD:1344058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044007 Spatc1l spermatogenesis and centriole associated 1 like gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344058 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 9044007 Spatc1l spermatogenesis and centriole associated 1 like gene DOID:9263 homocystinuria ISO RGD:1344058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 9044007 Spatc1l spermatogenesis and centriole associated 1 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1344058 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9044015 Rgs13 regulator of G protein signaling 13 gene DOID:1540 parathyroid carcinoma ISO RGD:1604849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9044015 Rgs13 regulator of G protein signaling 13 gene DOID:630 genetic disease ISO RGD:1604849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044015 Rgs13 regulator of G protein signaling 13 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1604849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 9044015 Rgs13 regulator of G protein signaling 13 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1604849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9044027 Rgs16 regulator of G protein signaling 16 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 9044027 Rgs16 regulator of G protein signaling 16 gene DOID:0080600 COVID-19 ISO RGD:1343291 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9044027 Rgs16 regulator of G protein signaling 16 gene DOID:1540 parathyroid carcinoma ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9044027 Rgs16 regulator of G protein signaling 16 gene DOID:630 genetic disease ISO RGD:1343291 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044027 Rgs16 regulator of G protein signaling 16 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 9044027 Rgs16 regulator of G protein signaling 16 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1343291 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9044044 Orc5 origin recognition complex subunit 5 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9044044 Orc5 origin recognition complex subunit 5 gene DOID:630 genetic disease ISO RGD:1320971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044062 Bhlhe23 basic helix-loop-helix family member e23 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9044062 Bhlhe23 basic helix-loop-helix family member e23 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1346145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 9044062 Bhlhe23 basic helix-loop-helix family member e23 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1346145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9044062 Bhlhe23 basic helix-loop-helix family member e23 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1346145 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 9044062 Bhlhe23 basic helix-loop-helix family member e23 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346145 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9044062 Bhlhe23 basic helix-loop-helix family member e23 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1346145 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 9044062 Bhlhe23 basic helix-loop-helix family member e23 gene DOID:630 genetic disease ISO RGD:1346145 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044068 C2cd6 C2 calcium dependent domain containing 6 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1345082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 9044068 C2cd6 C2 calcium dependent domain containing 6 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1345082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 9044068 C2cd6 C2 calcium dependent domain containing 6 gene DOID:0110983 Joubert syndrome 14 ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:22152675|PMID:28492532 9044068 C2cd6 C2 calcium dependent domain containing 6 gene DOID:10283 prostate cancer ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9044068 C2cd6 C2 calcium dependent domain containing 6 gene DOID:630 genetic disease ISO RGD:1345082 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044068 C2cd6 C2 calcium dependent domain containing 6 gene DOID:9000182 Spermatogenic Failure 68 ISO RGD:1345082 D RGD:7240710 20220330 OMIM 9044068 C2cd6 C2 calcium dependent domain containing 6 gene DOID:9000182 Spermatogenic Failure 68 ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 68 PMID:31985809 9044068 C2cd6 C2 calcium dependent domain containing 6 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 9044068 C2cd6 C2 calcium dependent domain containing 6 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9044068 C2cd6 C2 calcium dependent domain containing 6 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1345082 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 9044068 C2cd6 C2 calcium dependent domain containing 6 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1345082 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1352992 D RGD:7240710 20180130 OMIM 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050434 Andersen-Tawil syndrome ISO RGD:1352992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Andersen Syndrome | ClinVar Annotator: match by term: Andersen Tawil syndrome | ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:11371347|PMID:11841151|PMID:11861044|PMID:12045162|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12689820|PMID:12796536|PMID:12909315|PMID:14522976|PMID:15028050|PMID:15276028|PMID:15757667|PMID:15761194|PMID:15831539|PMID:15851159|PMID:15852530|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16533896|PMID:16541386|PMID:16571646|PMID:16818210|PMID:16834334|PMID:17074642|PMID:17119796|PMID:17210839|PMID:17211524|PMID:17221872|PMID:17324964|PMID:17341397|PMID:17399642|PMID:17399643|PMID:17568571|PMID:17581963|PMID:17582433|PMID:17619200|PMID:17640933|PMID:17655675|PMID:18313615|PMID:18452873|PMID:18554214|PMID:19041665|PMID:19111761|PMID:19201608|PMID:19570891|PMID:19931173|PMID:20111058|PMID:20382953|PMID:20647529|PMID:20713726|PMID:21148745|PMID:21493816|PMID:21875779|PMID:22002906|PMID:22166941|PMID:22186697|PMID:22286118|PMID:22308236|PMID:22371365|PMID:22581653|PMID:22589293|PMID:22806368|PMID:22944906|PMID:22982078|PMID:23516313|PMID:23564459|PMID:23595086|PMID:23631430|PMID:23644778|PMID:23861362|PMID:23867365|PMID:24025405|PMID:24033266|PMID:24047492|PMID:24211314|PMID:24383070|PMID:24388587|PMID:24395924|PMID:24561538|PMID:24721648|PMID:24861851|PMID:25223803|PMID:25284084|PMID:25351510|PMID:25410959|PMID:25415519|PMID:25637381|PMID:25741868|PMID:25847018|PMID:26109178|PMID:26230511|PMID:26304528|PMID:26322597|PMID:26467025|PMID:26927354|PMID:26937109|PMID:27145478|PMID:27456059|PMID:27789106|PMID:27920829|PMID:28003625|PMID:28024840|PMID:28336205|PMID:28341588|PMID:28491792|PMID:28492532|PMID:28501311|PMID:28589536|PMID:28600387|PMID:28606196|PMID:28711067|PMID:28798025|PMID:29017447|PMID:29247119|PMID:29606556|PMID:29874177|PMID:29915097|PMID:30298493|PMID:30516834|PMID:30533530|PMID:30615648|PMID:30665703|PMID:30847666|PMID:30975432|PMID:31068157|PMID:31483760|PMID:31521807|PMID:31534214|PMID:31567646|PMID:31669729|PMID:31737537|PMID:31890843|PMID:32145446|PMID:32184906|PMID:32299589|PMID:32499698|PMID:32969603|PMID:33057326|PMID:34127479|PMID:34426522|PMID:34516623|PMID:35456365|PMID:8078584 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050451 Brugada syndrome ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050650 familial atrial fibrillation ISO RGD:1352992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial atrial fibrillation PMID:25741868|PMID:28492532 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0050793 short QT syndrome ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short QT syndrome PMID:15761194|PMID:17640933|PMID:22308236|PMID:22371365|PMID:22581653|PMID:25741868|PMID:28492532|PMID:8078584 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0060224 atrial fibrillation ISO RGD:1352992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:15922306|PMID:17581963|PMID:19041665|PMID:19111761|PMID:22581653|PMID:23631430|PMID:25223803|PMID:25410959|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28711067|PMID:29247119|PMID:31521807|PMID:34426522|PMID:34516623|PMID:35456365 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:0110644 long QT syndrome 1 ISO RGD:1352992 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15851159|PMID:15911703|PMID:16217063|PMID:16419128|PMID:16818210|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17655675|PMID:20713726|PMID:22002906|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23516313|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24721648|PMID:24861851|PMID:25284084|PMID:25741868|PMID:26109178|PMID:26467025|PMID:28003625|PMID:28492532|PMID:30298493|PMID:31068157 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:1029 familial periodic paralysis ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial periodic paralysis PMID:17324964|PMID:19201608|PMID:22581653 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:2843 long QT syndrome ISO RGD:1352992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:11371347|PMID:11841151|PMID:11861044|PMID:12045162|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12689820|PMID:12796536|PMID:12909315|PMID:14522976|PMID:15028050|PMID:15276028|PMID:15757667|PMID:15831539|PMID:15851159|PMID:15852530|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16541386|PMID:16571646|PMID:16818210|PMID:16834334|PMID:17074642|PMID:17119796|PMID:17210839|PMID:17211524|PMID:17221872|PMID:17324964|PMID:17341397|PMID:17399642|PMID:17399643|PMID:17568571|PMID:17581963|PMID:17582433|PMID:17655675|PMID:18452873|PMID:18554214|PMID:18690034|PMID:19041665|PMID:19111761|PMID:19931173|PMID:20111058|PMID:20382953|PMID:20647529|PMID:20713726|PMID:21148745|PMID:21640645|PMID:21875779|PMID:22002906|PMID:22186697|PMID:22286118|PMID:22581653|PMID:22589293|PMID:22806368|PMID:22944906|PMID:23516313|PMID:23595086|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24211314|PMID:24561538|PMID:24721648|PMID:24861851|PMID:25223803|PMID:25284084|PMID:25410959|PMID:25415519|PMID:25637381|PMID:25741868|PMID:26109178|PMID:26467025|PMID:26927354|PMID:26937109|PMID:28003625|PMID:28024840|PMID:28492532|PMID:28501311|PMID:28600387|PMID:28711067|PMID:28798025|PMID:29247119|PMID:30298493|PMID:30516834|PMID:30533530|PMID:30665703|PMID:31068157|PMID:31521807|PMID:31534214|PMID:31567646|PMID:31669729|PMID:31737537|PMID:33057326|PMID:34127479|PMID:34426522|PMID:34516623|PMID:35456365 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:37 skin disease ISO RGD:1352992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:5844 myocardial infarction treatment ISO RGD:61968 D RGD:9068941 20200609 RGD PMID:23647964|REF_RGD_ID:7247426 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:630 genetic disease ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11371347|PMID:12163457|PMID:12796536|PMID:12909315|PMID:15852530|PMID:16217063|PMID:17074642|PMID:17119796|PMID:17221872|PMID:17399642|PMID:17568571|PMID:18554214|PMID:20647529|PMID:22581653|PMID:22589293|PMID:23631430|PMID:24211314|PMID:25415519|PMID:25741868|PMID:26230511|PMID:26467025|PMID:26937109|PMID:28024840|PMID:28492532|PMID:28501311 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:16217063|PMID:16818210|PMID:17341397|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23631430|PMID:23644778|PMID:24861851|PMID:25741868|PMID:26304528|PMID:28336205|PMID:28492532 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:17211524|PMID:17324964|PMID:17341397|PMID:22581653|PMID:22589293|PMID:24383070|PMID:25741868|PMID:25847018|PMID:27145478|PMID:28492532|PMID:31068157|PMID:31483760|PMID:31567646|PMID:31890843|PMID:32299589|PMID:32499698 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1352992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:27920829|PMID:28492532|PMID:30615648|PMID:30975432|PMID:31737537|PMID:32184906 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9001868 Short QT Syndrome 3 ISO RGD:1352992 D RGD:7240710 20180130 OMIM 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9001868 Short QT Syndrome 3 ISO RGD:1352992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15761194|PMID:15851159|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16818210|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17341397|PMID:17581963|PMID:17640933|PMID:17655675|PMID:19041665|PMID:19111761|PMID:20713726|PMID:21875779|PMID:22002906|PMID:22155372|PMID:22308236|PMID:22371365|PMID:22581653|PMID:22589293|PMID:22806368|PMID:22944906|PMID:23440193|PMID:23516313|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24033266|PMID:24388587|PMID:24721648|PMID:24861851|PMID:25223803|PMID:25284084|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:25847018|PMID:26076356|PMID:26109178|PMID:26304528|PMID:26467025|PMID:27456059|PMID:27920829|PMID:28003625|PMID:28336205|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28600387|PMID:28711067|PMID:28798025|PMID:29247119|PMID:29874177|PMID:29915097|PMID:30298493|PMID:30615648|PMID:30665703|PMID:30847666|PMID:30975432|PMID:31068157|PMID:31483760|PMID:31521807|PMID:31534214|PMID:31567646|PMID:31737537|PMID:31890843|PMID:32145446|PMID:32184906|PMID:32299589|PMID:32499698|PMID:34426522|PMID:34516623|PMID:35456365|PMID:8078584 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9002848 Familial Atrial Fibrillation 9 ISO RGD:1352992 D RGD:7240710 20180130 OMIM 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9002848 Familial Atrial Fibrillation 9 ISO RGD:1352992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 9 PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15851159|PMID:15911703|PMID:15922306|PMID:16217063|PMID:16419128|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17581963|PMID:17655675|PMID:19041665|PMID:19111761|PMID:20713726|PMID:22002906|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24033266|PMID:24388587|PMID:24721648|PMID:25223803|PMID:25351510|PMID:25410959|PMID:25637381|PMID:25741868|PMID:26109178|PMID:26467025|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28711067|PMID:29247119|PMID:29874177|PMID:30298493|PMID:30847666|PMID:31068157|PMID:31521807|PMID:31534214|PMID:32145446|PMID:34426522|PMID:34516623|PMID:35456365 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1352992 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:11371347|PMID:11841151|PMID:11861044|PMID:12086641|PMID:12148092|PMID:12163457|PMID:12796536|PMID:14522976|PMID:15757667|PMID:15851159|PMID:15911703|PMID:16217063|PMID:16419128|PMID:16818210|PMID:16834334|PMID:17211524|PMID:17221872|PMID:17655675|PMID:20713726|PMID:22002906|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23516313|PMID:23631430|PMID:23644778|PMID:23867365|PMID:24025405|PMID:24721648|PMID:24861851|PMID:25284084|PMID:25741868|PMID:26109178|PMID:26467025|PMID:28003625|PMID:28492532|PMID:30298493|PMID:31068157 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9005141 Ventricular Tachycardia ISO RGD:1352992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:15851159|PMID:15911703|PMID:16217063|PMID:16818210|PMID:17341397|PMID:19843922|PMID:22581653|PMID:22589293|PMID:22806368|PMID:23631430|PMID:23644778|PMID:24861851|PMID:25741868|PMID:26304528|PMID:28336205|PMID:28492532 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9007 sudden infant death syndrome ISO RGD:1352992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:25741868|PMID:28341588|PMID:28492532|PMID:29874177 9044096 Kcnj2 potassium inwardly rectifying channel subfamily J member 2 gene DOID:9007964 Arsenic Poisoning ISO RGD:1352992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9044125 Ube2a ubiquitin conjugating enzyme E2 A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9044125 Ube2a ubiquitin conjugating enzyme E2 A gene DOID:0060820 syndromic X-linked intellectual disability Nascimento type ISO RGD:1346006 D RGD:7240710 20180130 OMIM 9044125 Ube2a ubiquitin conjugating enzyme E2 A gene DOID:0060820 syndromic X-linked intellectual disability Nascimento type ISO RGD:1346006 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Nascimento type PMID:16909393|PMID:20412111|PMID:25741868|PMID:32415735 9044125 Ube2a ubiquitin conjugating enzyme E2 A gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1346006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 9044125 Ube2a ubiquitin conjugating enzyme E2 A gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1346006 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 9044125 Ube2a ubiquitin conjugating enzyme E2 A gene DOID:12849 autistic disorder ISO RGD:1346006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 PMID:21681106|PMID:30208311 9044125 Ube2a ubiquitin conjugating enzyme E2 A gene DOID:630 genetic disease ISO RGD:1346006 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9044132 Mcm4 minichromosome maintenance complex component 4 gene DOID:0111961 immunodeficiency 26 ISO RGD:735578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency PMID:28492532 9044132 Mcm4 minichromosome maintenance complex component 4 gene DOID:0111967 immunodeficiency 54 ISO RGD:735578 D RGD:7240710 20180130 OMIM 9044132 Mcm4 minichromosome maintenance complex component 4 gene DOID:0111967 immunodeficiency 54 ISO RGD:735578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: MCM4-related condition | ClinVar Annotator: match by term: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency PMID:16199547|PMID:16532402|PMID:17576681|PMID:22354167|PMID:22354170|PMID:22499342|PMID:24033266|PMID:25741868|PMID:26633542|PMID:28492532|PMID:9536098 9044132 Mcm4 minichromosome maintenance complex component 4 gene DOID:10907 microcephaly ISO RGD:735578 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 9044132 Mcm4 minichromosome maintenance complex component 4 gene DOID:630 genetic disease ISO RGD:735578 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9044153 Mon1b MON1 homolog B, secretory trafficking associated gene DOID:0070168 spermatogenic failure 3 ISO RGD:1605088 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-obstructive azoospermia PMID:25741868|PMID:28492532|PMID:31479588 9044153 Mon1b MON1 homolog B, secretory trafficking associated gene DOID:630 genetic disease ISO RGD:1605088 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044170 Selplg selectin P ligand gene DOID:0060180 colitis ISO RGD:1317473 D RGD:9068941 20200609 RGD PMID:22009715|REF_RGD_ID:6218987 9044170 Selplg selectin P ligand gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1317472 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 9044170 Selplg selectin P ligand gene DOID:0080600 COVID-19 ISO RGD:1317472 D RGD:9068941 20200709 RGD mRNA:decreased expression:CD4+ T cells (human) PMID:32377375|REF_RGD_ID:32716422 9044170 Selplg selectin P ligand gene DOID:3407 carotid artery disease ISO RGD:1317472 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M62I (human) PMID:22307784|REF_RGD_ID:6218985 9044170 Selplg selectin P ligand gene DOID:630 genetic disease ISO RGD:1317472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044170 Selplg selectin P ligand gene DOID:9002159 Liver Reperfusion Injury ameliorates ISO RGD:1307971 D RGD:9068941 20230803 RGD PMID:16365457|REF_RGD_ID:401717523 9044199 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:735637 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 9044199 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:630 genetic disease ISO RGD:735637 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044199 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9044199 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:8577 ulcerative colitis ISO RGD:735637 D RGD:9068941 20200609 RGD PMID:17611633|REF_RGD_ID:5685618 9044199 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:8778 Crohn's disease ISO RGD:735637 D RGD:9068941 20200609 RGD PMID:17611633|REF_RGD_ID:5685618 9044199 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735637 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9044199 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:11486 D RGD:9068941 20200609 RGD PMID:21129425|REF_RGD_ID:5685622 9044199 Vipr1 vasoactive intestinal peptide receptor 1 gene DOID:9164 achalasia onset ISO RGD:735637 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs437876 (human) PMID:19309439|REF_RGD_ID:5685626 9044218 St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1348054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 9044218 St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1348054 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9044218 St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:0070262 congenital disorder of glycosylation type IIj ISO RGD:1348054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG4-CDG PMID:19494034 9044218 St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 gene DOID:630 genetic disease ISO RGD:1348054 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044256 Slc6a2 solute carrier family 6 member 2 gene DOID:0050741 alcohol dependence susceptibility ISO RGD:731947 D RGD:9068941 20240229 RGD DNA:SNPs,haplotypes:intron: (rs36020,rs36029) (human) PMID:21070505|REF_RGD_ID:401976462 9044256 Slc6a2 solute carrier family 6 member 2 gene DOID:10273 heart conduction disease ISO RGD:731948 D RGD:9068941 20220825 MouseDO 9044256 Slc6a2 solute carrier family 6 member 2 gene DOID:10763 hypertension ISO RGD:731947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22533655 9044256 Slc6a2 solute carrier family 6 member 2 gene DOID:10763 hypertension ISO RGD:731947 D RGD:9068941 20200609 RGD DNA:polymorphism:1287G>A PMID:17124432|REF_RGD_ID:1624279 9044256 Slc6a2 solute carrier family 6 member 2 gene DOID:11569 neurocirculatory asthenia ISO RGD:731947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neurocirculatory asthenia PMID:10684912|PMID:11875370 9044256 Slc6a2 solute carrier family 6 member 2 gene DOID:1596 depressive disorder ISO RGD:621822 D RGD:9068941 20200609 RGD PMID:18800064|REF_RGD_ID:6218960 9044256 Slc6a2 solute carrier family 6 member 2 gene DOID:630 genetic disease ISO RGD:731947 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044256 Slc6a2 solute carrier family 6 member 2 gene DOID:9004453 Orthostatic Intolerance ISO RGD:731947 D RGD:7240710 20180130 OMIM 9044256 Slc6a2 solute carrier family 6 member 2 gene DOID:9004453 Orthostatic Intolerance ISO RGD:731947 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: SLC6A2-related disorder 9044280 Itih5 inter-alpha-trypsin inhibitor heavy chain 5 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1606774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9044280 Itih5 inter-alpha-trypsin inhibitor heavy chain 5 gene DOID:10283 prostate cancer ISO RGD:1606774 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9044280 Itih5 inter-alpha-trypsin inhibitor heavy chain 5 gene DOID:630 genetic disease ISO RGD:1606774 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044298 Fabp3 fatty acid binding protein 3 gene DOID:0080000 muscular disease ISO RGD:69087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18308699 9044298 Fabp3 fatty acid binding protein 3 gene DOID:10652 Alzheimer's disease ISO RGD:69087 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:15068254|REF_RGD_ID:1578460 9044298 Fabp3 fatty acid binding protein 3 gene DOID:10763 hypertension susceptibility ISO RGD:69087 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18437121|REF_RGD_ID:2307331 9044298 Fabp3 fatty acid binding protein 3 gene DOID:14250 Down syndrome ISO RGD:69087 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex (human) PMID:15068254|REF_RGD_ID:1578460 9044298 Fabp3 fatty acid binding protein 3 gene DOID:5844 myocardial infarction ISO RGD:69087 D RGD:9068941 20200609 RGD PMID:8326460|REF_RGD_ID:1582401 9044298 Fabp3 fatty acid binding protein 3 gene DOID:630 genetic disease ISO RGD:69087 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044298 Fabp3 fatty acid binding protein 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69048 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:aorta PMID:7744030|REF_RGD_ID:2307330 9044298 Fabp3 fatty acid binding protein 3 gene DOID:9005749 Necrosis ISO RGD:69087 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18308699 9044298 Fabp3 fatty acid binding protein 3 gene DOID:9007692 Insulin Resistance severity ISO RGD:69088 D RGD:9068941 20200609 RGD PMID:16249436|REF_RGD_ID:1578459 9044298 Fabp3 fatty acid binding protein 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69087 D RGD:9068941 20200609 RGD DNA:deletion:3' utr:c.634+483delT (human) PMID:12872269|REF_RGD_ID:1578461 9044298 Fabp3 fatty acid binding protein 3 gene DOID:9970 obesity ISO RGD:69087 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:decreased expression:skeletal muscle PMID:17515913|REF_RGD_ID:2307328 9044335 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 9044335 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1315310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 9044335 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1315310 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 9044335 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9044335 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1315310 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 9044335 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 9044335 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1315310 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 9044335 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:630 genetic disease ISO RGD:1315310 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044335 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:9007188 Liver Neoplasms ISO RGD:1315310 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 9044335 Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1315310 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 9044348 Usp38 ubiquitin specific peptidase 38 gene DOID:630 genetic disease ISO RGD:1323709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044362 Septin2 septin 2 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1342947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9044362 Septin2 septin 2 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1342947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9044362 Septin2 septin 2 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1342947 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 9044362 Septin2 septin 2 gene DOID:1059 intellectual disability ISO RGD:1342947 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9044362 Septin2 septin 2 gene DOID:14749 methylmalonic acidemia ISO RGD:1342947 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16823967 9044362 Septin2 septin 2 gene DOID:630 genetic disease ISO RGD:1342947 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044362 Septin2 septin 2 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1342947 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9044402 Ndufa8 NADH:ubiquinone oxidoreductase subunit A8 gene DOID:630 genetic disease ISO RGD:1314815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044402 Ndufa8 NADH:ubiquinone oxidoreductase subunit A8 gene DOID:9000429 Nuclear Type Mitochondrial Complex I Deficiency 37 ISO RGD:1314815 D RGD:7240710 20210505 OMIM 9044402 Ndufa8 NADH:ubiquinone oxidoreductase subunit A8 gene DOID:9000429 Nuclear Type Mitochondrial Complex I Deficiency 37 ISO RGD:1314815 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 PMID:25741868|PMID:32385911|PMID:33153867 9044410 Sms spermine synthase gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25741868 9044410 Sms spermine synthase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9044410 Sms spermine synthase gene DOID:0060802 syndromic X-linked intellectual disability Snyder type ISO RGD:1345734 D RGD:7240710 20180130 OMIM 9044410 Sms spermine synthase gene DOID:0060802 syndromic X-linked intellectual disability Snyder type ISO RGD:1345734 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SMS-Related Disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type PMID:14508504|PMID:18550699|PMID:19206178|PMID:19377476|PMID:22612257|PMID:23696453|PMID:23805436|PMID:23897707|PMID:25741868|PMID:25888122|PMID:26174906|PMID:26467025|PMID:26761001|PMID:28492532|PMID:31580924|PMID:33624935|PMID:34177437|PMID:5823961 9044410 Sms spermine synthase gene DOID:1059 intellectual disability ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9044410 Sms spermine synthase gene DOID:12849 autistic disorder ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9044410 Sms spermine synthase gene DOID:630 genetic disease ISO RGD:1345734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:23805436|PMID:25741868|PMID:25936994|PMID:26467025|PMID:26761001|PMID:28492532|PMID:34177437 9044410 Sms spermine synthase gene DOID:7148 rheumatoid arthritis ISO RGD:1345734 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 9044410 Sms spermine synthase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9044410 Sms spermine synthase gene DOID:9008582 Developmental Disease ISO RGD:1345734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9044426 C1rl complement C1r subcomponent like gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1346889 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9044426 C1rl complement C1r subcomponent like gene DOID:0080443 developmental and epileptic encephalopathy 21 ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 PMID:28492532 9044426 C1rl complement C1r subcomponent like gene DOID:0080591 Klippel-Feil syndrome 3 ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant PMID:28492532 9044426 C1rl complement C1r subcomponent like gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9044426 C1rl complement C1r subcomponent like gene DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 ISO RGD:1346889 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 PMID:25741868|PMID:27745832 9044426 C1rl complement C1r subcomponent like gene DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 ISO RGD:1346889 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 PMID:25741868|PMID:27745832 9044426 C1rl complement C1r subcomponent like gene DOID:0111621 Temtamy syndrome ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9044426 C1rl complement C1r subcomponent like gene DOID:630 genetic disease ISO RGD:1346889 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044426 C1rl complement C1r subcomponent like gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1346889 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9044438 Ccdc146 coiled-coil domain containing 146 gene DOID:12336 male infertility ISO RGD:1615819 D RGD:9068941 20240208 MouseDO 9044438 Ccdc146 coiled-coil domain containing 146 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9044438 Ccdc146 coiled-coil domain containing 146 gene DOID:630 genetic disease ISO RGD:1605975 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044438 Ccdc146 coiled-coil domain containing 146 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1605975 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 9044467 Rassf4 Ras association domain family member 4 gene DOID:630 genetic disease ISO RGD:1317179 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044467 Rassf4 Ras association domain family member 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1317179 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0050777 Joubert syndrome ISO RGD:1606513 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:10488899|PMID:20301500|PMID:21679365|PMID:22236771|PMID:22425360|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25741868|PMID:25846457|PMID:25877302|PMID:26092869|PMID:28087721|PMID:28125082|PMID:28431631|PMID:28492532|PMID:29146704|PMID:29605658 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0060376 Joubert syndrome with orofaciodigital defect ISO RGD:1606513 D RGD:7240710 20180130 OMIM 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0060376 Joubert syndrome with orofaciodigital defect ISO RGD:1606513 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301500|PMID:22425360|PMID:22693042|PMID:23523602|PMID:24091540|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25741868|PMID:25846457|PMID:25920555|PMID:26092869|PMID:27081551|PMID:27158779|PMID:28125082|PMID:28289185|PMID:28431631|PMID:28454995|PMID:28492532|PMID:28771248|PMID:28976722|PMID:29146704|PMID:29321670|PMID:29605658|PMID:30408610|PMID:30919572|PMID:31158925|PMID:31216405|PMID:31980526|PMID:32037395|PMID:32233090|PMID:33176815|PMID:34008892|PMID:34091942|PMID:9536098 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1606513 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1606513 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:10488899|PMID:16199547|PMID:20301500|PMID:22425360|PMID:24033266|PMID:24178751|PMID:25741868|PMID:25877302|PMID:26092869|PMID:28492532 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1606513 D RGD:7240710 20180130 OMIM 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0110986 Joubert Syndrome 17 ISO RGD:1606513 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CPLANE1-related condition | ClinVar Annotator: match by term: Joubert syndrome 17 PMID:10488899|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301500|PMID:22425360|PMID:22693042|PMID:23523602|PMID:24091540|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25558065|PMID:25741868|PMID:25877302|PMID:25920555|PMID:26092869|PMID:26096313|PMID:26477546|PMID:27081551|PMID:27158779|PMID:27166760|PMID:27434533|PMID:28087721|PMID:28125082|PMID:28289185|PMID:28431631|PMID:28454995|PMID:28492532|PMID:28771248|PMID:28976722|PMID:29146704|PMID:29321670|PMID:29605658|PMID:30408610|PMID:30919572|PMID:31158925|PMID:31216405|PMID:31980526|PMID:32037395|PMID:32233090|PMID:33176815|PMID:34008892|PMID:34091942|PMID:9536098 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0111112 nephronophthisis 1 ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:24178751|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:34008892 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1606513 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:22693042|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:33176815 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1606513 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 PMID:22425360|PMID:24178751|PMID:25407461|PMID:25533962|PMID:25741868|PMID:26092869|PMID:28492532|PMID:29146704 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:12712 nephronophthisis ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:22425360|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28087721|PMID:28125082|PMID:28431631|PMID:28492532|PMID:34008892 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:3070 high grade glioma ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Astrocytoma PMID:25741868|PMID:28492532 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:630 genetic disease ISO RGD:1606513 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21679365|PMID:22236771|PMID:22425360|PMID:23012439|PMID:24178751|PMID:25407461|PMID:25741868|PMID:25846457|PMID:28492532|PMID:28771248 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:9004898 Jaundice ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Jaundice PMID:24178751|PMID:25407461|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:34008892 9044486 Cplane1 ciliogenesis and planar polarity effector complex subunit 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1606513 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:24178751|PMID:25407461|PMID:25558065|PMID:25741868|PMID:26092869|PMID:28125082|PMID:28492532|PMID:34008892 9044543 Eme1 essential meiotic structure-specific endonuclease 1 gene DOID:0110334 osteogenesis imperfecta type 1 ISO RGD:1319200 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868 9044543 Eme1 essential meiotic structure-specific endonuclease 1 gene DOID:0111565 trichodontoosseous syndrome ISO RGD:1319200 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tricho-dento-osseous syndrome PMID:25741868 9044543 Eme1 essential meiotic structure-specific endonuclease 1 gene DOID:630 genetic disease ISO RGD:1319200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044556 Msantd2 Myb/SANT DNA binding domain containing 2 gene DOID:0110877 holoprosencephaly 11 ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 9044556 Msantd2 Myb/SANT DNA binding domain containing 2 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 9044556 Msantd2 Myb/SANT DNA binding domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9044556 Msantd2 Myb/SANT DNA binding domain containing 2 gene DOID:630 genetic disease ISO RGD:1606219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044556 Msantd2 Myb/SANT DNA binding domain containing 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9044556 Msantd2 Myb/SANT DNA binding domain containing 2 gene DOID:9007661 Dwarfism ISO RGD:1606219 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9044566 Blm BLM RecQ like helicase gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1318795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 9044566 Blm BLM RecQ like helicase gene DOID:10907 microcephaly ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32566746 9044566 Blm BLM RecQ like helicase gene DOID:2394 ovarian cancer ISO RGD:1318795 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:23129629|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29338689|PMID:29641532|PMID:30840646|PMID:31360874|PMID:31562900|PMID:32566746 9044566 Blm BLM RecQ like helicase gene DOID:2717 Bloom syndrome ISO RGD:1318795 D RGD:7240710 20180130 OMIM 9044566 Blm BLM RecQ like helicase gene DOID:2717 Bloom syndrome ISO RGD:1318795 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome PMID:10069810|PMID:10090915|PMID:10569803|PMID:10734115|PMID:10812332|PMID:10965492|PMID:11281456|PMID:11399766|PMID:12242432|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:15990871|PMID:16199547|PMID:16876111|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18414213|PMID:18471088|PMID:19763152|PMID:19917125|PMID:20301572|PMID:20307669|PMID:20639533|PMID:20980836|PMID:21113733|PMID:21815139|PMID:22406018|PMID:22582397|PMID:22657828|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24118499|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25640679|PMID:25653542|PMID:25741868|PMID:25741877|PMID:25794620|PMID:25850943|PMID:25901030|PMID:25940061|PMID:26028025|PMID:26247052|PMID:26296701|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:26979391|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27270107|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28805986|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:29970176|PMID:30044990|PMID:30082870|PMID:30138938|PMID:30152102|PMID:30214071|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30441849|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31212687|PMID:31218271|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31589614|PMID:31681265|PMID:31780696|PMID:31816118|PMID:31844177|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32029870|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32704157|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33073370|PMID:33077847|PMID:33193653|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33528079|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34117267|PMID:34177791|PMID:34288589|PMID:34308104|PMID:34497584|PMID:34538859|PMID:34767783|PMID:35218564|PMID:35264596|PMID:35273153|PMID:35314707|PMID:35892882|PMID:35969835|PMID:36232793|PMID:36315097|PMID:37316882|PMID:7585968|PMID:7799980|PMID:9285778|PMID:9388480|PMID:9536098|PMID:9758720|PMID:9837821|PMID:9840919 9044566 Blm BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17407155|PMID:23129629|PMID:23292937|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:29338689|PMID:30214240|PMID:30840646|PMID:32566746|PMID:7585968 9044566 Blm BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17407155|PMID:23129629|PMID:23292937|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:29338689|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968 9044566 Blm BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17407155|PMID:23129629|PMID:23292937|PMID:23960188|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:28944238|PMID:29338689|PMID:29641532|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968 9044566 Blm BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17407155|PMID:17576681|PMID:23129629|PMID:23292937|PMID:23960188|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:28944238|PMID:29338689|PMID:29641532|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:7585968|PMID:9536098 9044566 Blm BLM RecQ like helicase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1318795 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:17407155|PMID:17576681|PMID:23129629|PMID:23292937|PMID:23960188|PMID:24728327|PMID:24816114|PMID:25653542|PMID:25741868|PMID:26467025|PMID:26503572|PMID:26788541|PMID:28492532|PMID:28724667|PMID:28944238|PMID:29338689|PMID:29641532|PMID:30214240|PMID:30840646|PMID:31118792|PMID:31360874|PMID:32107087|PMID:32566746|PMID:32868804|PMID:35273153|PMID:35314707|PMID:7585968|PMID:9536098 9044566 Blm BLM RecQ like helicase gene DOID:630 genetic disease ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23129629|PMID:24728327|PMID:25741868|PMID:26788541|PMID:28492532 9044566 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26585945|PMID:26681682|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28832562|PMID:28873162|PMID:28877996|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30840646|PMID:30995915|PMID:31159747|PMID:31253795|PMID:31780696|PMID:31816118|PMID:31970404|PMID:32566746|PMID:32860008|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 9044566 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26585945|PMID:26681682|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28832562|PMID:28873162|PMID:28877996|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30840646|PMID:30995915|PMID:31159747|PMID:31253795|PMID:31780696|PMID:31816118|PMID:31970404|PMID:32073752|PMID:32566746|PMID:32860008|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 9044566 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31780696|PMID:31816118|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32566746|PMID:32860008|PMID:32868804|PMID:33318203|PMID:33436027|PMID:33832920|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 9044566 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:19917125|PMID:20301572|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31780696|PMID:31816118|PMID:31937788|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32566746|PMID:32860008|PMID:32868804|PMID:33318203|PMID:33436027|PMID:33606809|PMID:33832920|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 9044566 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25850943|PMID:25901030|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31780696|PMID:31816118|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34177791|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 9044566 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25794620|PMID:25850943|PMID:25901030|PMID:25940061|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27854218|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31681265|PMID:31780696|PMID:31816118|PMID:31911633|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34117267|PMID:34177791|PMID:35264596|PMID:35892882|PMID:36232793|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 9044566 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11281456|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25794620|PMID:25850943|PMID:25901030|PMID:25940061|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27854218|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:30044990|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31681265|PMID:31780696|PMID:31816118|PMID:31911633|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34117267|PMID:34177791|PMID:34497584|PMID:34538859|PMID:35264596|PMID:35892882|PMID:36232793|PMID:7585968|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 9044566 Blm BLM RecQ like helicase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318795 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10069810|PMID:10569803|PMID:10812332|PMID:10965492|PMID:11281456|PMID:11399766|PMID:12444098|PMID:15579905|PMID:15609317|PMID:15930159|PMID:16199547|PMID:17407155|PMID:17576681|PMID:17878217|PMID:18471088|PMID:19917125|PMID:20301572|PMID:20980836|PMID:21815139|PMID:22582397|PMID:22829774|PMID:22885301|PMID:23028338|PMID:23129629|PMID:23161009|PMID:23225144|PMID:23276657|PMID:23292937|PMID:23552953|PMID:23928670|PMID:23960188|PMID:24033266|PMID:24096176|PMID:24448499|PMID:24728327|PMID:24733792|PMID:24816114|PMID:24932421|PMID:25111073|PMID:25129257|PMID:25182961|PMID:25186949|PMID:25231023|PMID:25399228|PMID:25525159|PMID:25619955|PMID:25637381|PMID:25653542|PMID:25741868|PMID:25794620|PMID:25850943|PMID:25901030|PMID:25940061|PMID:26028025|PMID:26247052|PMID:26340805|PMID:26358404|PMID:26467025|PMID:26503572|PMID:26556299|PMID:26580448|PMID:26585945|PMID:26681682|PMID:26689913|PMID:26786923|PMID:2678854|PMID:26788541|PMID:26822949|PMID:26979391|PMID:27124789|PMID:27153395|PMID:27175728|PMID:27270107|PMID:27356891|PMID:27516001|PMID:27657136|PMID:27876123|PMID:27959697|PMID:28125078|PMID:28195393|PMID:28232778|PMID:28464862|PMID:28492532|PMID:28611551|PMID:28724667|PMID:28805986|PMID:28832562|PMID:28873162|PMID:28877996|PMID:28944238|PMID:29098565|PMID:29212164|PMID:29338689|PMID:29439820|PMID:29453417|PMID:29478780|PMID:29484706|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29753700|PMID:29785153|PMID:29970176|PMID:30044990|PMID:30082870|PMID:30138938|PMID:30152102|PMID:30214240|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30441849|PMID:30502717|PMID:30541756|PMID:30613976|PMID:30666157|PMID:30840646|PMID:30871259|PMID:30995915|PMID:31118792|PMID:31159747|PMID:31218271|PMID:31253795|PMID:31263571|PMID:31360874|PMID:31562900|PMID:31589614|PMID:31681265|PMID:31780696|PMID:31816118|PMID:31911633|PMID:31937788|PMID:31942411|PMID:31956452|PMID:31970404|PMID:32073752|PMID:32107087|PMID:32283892|PMID:32449991|PMID:32566746|PMID:32595206|PMID:32704157|PMID:32860008|PMID:32868804|PMID:32923906|PMID:33077847|PMID:33318203|PMID:33332384|PMID:33436027|PMID:33528079|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33647232|PMID:33832920|PMID:34117267|PMID:34177791|PMID:34288589|PMID:34308104|PMID:34497584|PMID:34538859|PMID:34767783|PMID:35218564|PMID:35264596|PMID:35273153|PMID:35314707|PMID:35892882|PMID:35969835|PMID:36232793|PMID:36315097|PMID:37316882|PMID:7585968|PMID:7799980|PMID:9388480|PMID:9536098|PMID:9837821|PMID:9840919 9044566 Blm BLM RecQ like helicase gene DOID:9008952 Breast Cancer, Familial ISO RGD:1318795 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 9044566 Blm BLM RecQ like helicase gene DOID:9256 colorectal cancer ISO RGD:1318795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0050454 periventricular nodular heterotopia ISO RGD:1352747 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0050476 Barth syndrome ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:9384614 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0080600 COVID-19 ISO RGD:1352747 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1352747 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:25741868 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0111932 severe congenital encephalopathy due to MECP2 mutation ISO RGD:1352747 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:15351775|PMID:15689435|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:22578097|PMID:22659343|PMID:23220634|PMID:26930212|PMID:28492532 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0112003 immunodeficiency 33 ISO RGD:1352747 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0112123 deafness, dystonia, and cerebral hypomyelination ISO RGD:1352747 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome PMID:25741868 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ISO RGD:1352747 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia PMID:10190819|PMID:12175782|PMID:14767898|PMID:15192815|PMID:15800013|PMID:15811009|PMID:16087056|PMID:17285533|PMID:20195870|PMID:20661612|PMID:21068741|PMID:21700483|PMID:21966424|PMID:23419472|PMID:23566833|PMID:25741868|PMID:26260157|PMID:26454440|PMID:27928321|PMID:28492532|PMID:7825602|PMID:7849723|PMID:8040304|PMID:8651290|PMID:9088111|PMID:9195223|PMID:9553942 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:7240710 20180130 OMIM 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy PMID:10190819|PMID:10227685|PMID:10480364|PMID:10551832|PMID:10737980|PMID:10815658|PMID:10980539|PMID:11102997|PMID:11220738|PMID:11248239|PMID:11310629|PMID:11330045|PMID:11336405|PMID:11438993|PMID:11739809|PMID:11748843|PMID:11798073|PMID:11810273|PMID:12175782|PMID:12530690|PMID:12624723|PMID:12913200|PMID:14586615|PMID:14713218|PMID:14767898|PMID:1481812|PMID:15032602|PMID:15284851|PMID:15388659|PMID:15564782|PMID:15643618|PMID:15800013|PMID:15811009|PMID:15812458|PMID:15878823|PMID:16018167|PMID:16023551|PMID:16087056|PMID:16199547|PMID:16401743|PMID:16415970|PMID:16672758|PMID:16949688|PMID:16996397|PMID:17029209|PMID:17202797|PMID:17285533|PMID:17504626|PMID:17542813|PMID:17576681|PMID:17990484|PMID:18306728|PMID:18973459|PMID:19129531|PMID:19892975|PMID:20008255|PMID:20195870|PMID:20301491|PMID:20455653|PMID:20626745|PMID:20661612|PMID:20800589|PMID:20849526|PMID:20859061|PMID:21068741|PMID:21300044|PMID:21476988|PMID:21478203|PMID:21488864|PMID:21586746|PMID:21700483|PMID:21889498|PMID:21907609|PMID:21966424|PMID:22198747|PMID:22280810|PMID:22366764|PMID:22479560|PMID:22483867|PMID:22914231|PMID:23154058|PMID:23300730|PMID:23419472|PMID:23430809|PMID:23566833|PMID:23566848|PMID:23664929|PMID:23671276|PMID:23712774|PMID:23768953|PMID:23835273|PMID:24154795|PMID:24480483|PMID:24685009|PMID:24719134|PMID:24722136|PMID:24788897|PMID:25118695|PMID:25275259|PMID:25741868|PMID:26227820|PMID:26260157|PMID:26388597|PMID:26454440|PMID:26467025|PMID:26523528|PMID:26607867|PMID:26609365|PMID:27067449|PMID:27489563|PMID:27766264|PMID:27934597|PMID:28089346|PMID:28456143|PMID:28492532|PMID:28503596|PMID:28708278|PMID:28953922|PMID:28991658|PMID:29284317|PMID:29443243|PMID:29557549|PMID:30069915|PMID:31074578|PMID:31104286|PMID:31227335|PMID:31316545|PMID:31777199|PMID:32003821|PMID:32207279|PMID:32954314|PMID:33920672|PMID:34008892|PMID:34946879|PMID:35196747|PMID:6728562|PMID:6795626|PMID:7202134|PMID:7561948|PMID:7581394|PMID:7668254|PMID:7677014|PMID:7717396|PMID:7811247|PMID:7825602|PMID:7849718|PMID:7849723|PMID:7860075|PMID:7894167|PMID:7904210|PMID:7998779|PMID:8040304|PMID:8048932|PMID:8353949|PMID:8441467|PMID:8535452|PMID:8566952|PMID:8621506|PMID:8651290|PMID:8773611|PMID:8888042|PMID:8892025|PMID:9051655|PMID:9088111|PMID:9195223|PMID:9212180|PMID:9242200|PMID:9425230|PMID:9452087|PMID:9536098|PMID:9553942|PMID:9556301|PMID:9894883 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy ISO RGD:1352747 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy PMID:10190819|PMID:10227685|PMID:10369742|PMID:10480214|PMID:10480364|PMID:10551832|PMID:10737980|PMID:10815658|PMID:10980309|PMID:10980539|PMID:11063720|PMID:11102997|PMID:11220738|PMID:11248239|PMID:11310629|PMID:11330045|PMID:11336405|PMID:11438993|PMID:11739809|PMID:11748843|PMID:11798073|PMID:11810273|PMID:11968085|PMID:12175782|PMID:12402273|PMID:12530690|PMID:12624723|PMID:12913200|PMID:14533738|PMID:14586615|PMID:14713218|PMID:14767898|PMID:1481812|PMID:15032602|PMID:15192815|PMID:15284851|PMID:15333254|PMID:15388659|PMID:15564782|PMID:15643618|PMID:15800013|PMID:15811009|PMID:15812458|PMID:15878823|PMID:16018167|PMID:16023551|PMID:16087056|PMID:16199547|PMID:16401743|PMID:16415970|PMID:16427346|PMID:16601897|PMID:16672758|PMID:16684786|PMID:16949688|PMID:16996397|PMID:17029209|PMID:17202797|PMID:17285533|PMID:17372139|PMID:17498713|PMID:17504626|PMID:17542813|PMID:17576681|PMID:17990484|PMID:18206987|PMID:18306728|PMID:18973459|PMID:19129531|PMID:19234479|PMID:19325113|PMID:19396829|PMID:19496984|PMID:19592040|PMID:19660195|PMID:19846429|PMID:19892975|PMID:19963315|PMID:20008255|PMID:20195870|PMID:20228476|PMID:20301491|PMID:20376793|PMID:20455653|PMID:20626745|PMID:20661612|PMID:20730588|PMID:20800589|PMID:20849526|PMID:20859061|PMID:21068741|PMID:21264817|PMID:21300044|PMID:21476988|PMID:21478203|PMID:21488864|PMID:21586746|PMID:21700483|PMID:21889498|PMID:21907609|PMID:21966424|PMID:22045812|PMID:22176151|PMID:22189598|PMID:22198747|PMID:22280810|PMID:22281021|PMID:22366764|PMID:22382802|PMID:22479560|PMID:22483867|PMID:22687851|PMID:22914231|PMID:23009600|PMID:23154058|PMID:23300730|PMID:23409742|PMID:23419472|PMID:23430809|PMID:23469258|PMID:23566833|PMID:23566848|PMID:23651979|PMID:23660394|PMID:23664929|PMID:23671276|PMID:23712774|PMID:23768953|PMID:23835273|PMID:23864971|PMID:23926373|PMID:24154795|PMID:24365856|PMID:24480483|PMID:24685009|PMID:24719134|PMID:24722136|PMID:24768737|PMID:24788897|PMID:24962355|PMID:25118695|PMID:25275259|PMID:25324868|PMID:25741868|PMID:25835273|PMID:25835712|PMID:25999754|PMID:26227820|PMID:26260157|PMID:26266984|PMID:26388597|PMID:26454440|PMID:26467025|PMID:26471271|PMID:26523528|PMID:26607867|PMID:26609365|PMID:27067449|PMID:27084228|PMID:27489563|PMID:27766264|PMID:27779215|PMID:27928321|PMID:27934597|PMID:28086082|PMID:28089346|PMID:28216041|PMID:28456143|PMID:28481932|PMID:28492532|PMID:28503596|PMID:28601575|PMID:28708278|PMID:28953922|PMID:28991658|PMID:29056270|PMID:29284317|PMID:29334594|PMID:29443243|PMID:29557549|PMID:29950168|PMID:30069915|PMID:30293248|PMID:30544401|PMID:30564185|PMID:30658899|PMID:30787906|PMID:30902905|PMID:31074578|PMID:31104286|PMID:31227335|PMID:31316545|PMID:31452695|PMID:31526374|PMID:31557422|PMID:31777199|PMID:32003821|PMID:32047678|PMID:32101828|PMID:32207279|PMID:32307584|PMID:32403196|PMID:32954314|PMID:33151932|PMID:33247909|PMID:33359056|PMID:33547378|PMID:33920672|PMID:34008892|PMID:34012265|PMID:34302356|PMID:34826210|PMID:34946879|PMID:35053399|PMID:35076462|PMID:35196747|PMID:35466195|PMID:35535697|PMID:35645283|PMID:6728562|PMID:6795626|PMID:7202134|PMID:7561948|PMID:7581394|PMID:7668254|PMID:7677014|PMID:7717396|PMID:7811247|PMID:7825602|PMID:7849718|PMID:7849723|PMID:7860075|PMID:7876858|PMID:7894167|PMID:7904210|PMID:7998779|PMID:8040304|PMID:8048932|PMID:8353949|PMID:8441467|PMID:8535452|PMID:8566952|PMID:8621506|PMID:8651290|PMID:8773611|PMID:8888042|PMID:8889593|PMID:8892025|PMID:9051655|PMID:9088111|PMID:9195223|PMID:9212180|PMID:9242200|PMID:9384614|PMID:9425230|PMID:9452087|PMID:9536098|PMID:9551465|PMID:9553942|PMID:9556301|PMID:9584268|PMID:9846054|PMID:9894883 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:10588 adrenoleukodystrophy susceptibility ISO RGD:1352747 D RGD:9068941 20200609 RGD PMID:8048932|REF_RGD_ID:1598655 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:1059 intellectual disability ISO RGD:1352747 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:31316545|PMID:35535697 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:12849 autistic disorder ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:13628 favism ISO RGD:1352747 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:13774 Addison's disease ISO RGD:1352747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary adrenocortical insufficiency PMID:10190819|PMID:11248239|PMID:11748843|PMID:12530690|PMID:12624723|PMID:14767898|PMID:15032602|PMID:15811009|PMID:16087056|PMID:17542813|PMID:17990484|PMID:21476988|PMID:21700483|PMID:21966424|PMID:22479560|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7581394|PMID:7668254|PMID:8040304|PMID:8651290|PMID:8773611 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1352747 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:607 paraplegia ISO RGD:1352747 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:630 genetic disease ISO RGD:1352747 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10190819|PMID:10227685|PMID:10480364|PMID:10737980|PMID:10980309|PMID:11438993|PMID:11748843|PMID:12175782|PMID:12402273|PMID:14767898|PMID:15192815|PMID:15800013|PMID:15811009|PMID:16087056|PMID:16199547|PMID:16415970|PMID:16949688|PMID:17285533|PMID:17372139|PMID:17542813|PMID:19129531|PMID:19325113|PMID:20661612|PMID:20800589|PMID:20859061|PMID:21068741|PMID:21300044|PMID:21700483|PMID:21889498|PMID:21966424|PMID:22045812|PMID:22189598|PMID:22280810|PMID:22479560|PMID:22483867|PMID:23419472|PMID:23430809|PMID:23566833|PMID:23864971|PMID:24154795|PMID:24719134|PMID:24920594|PMID:25118695|PMID:25275259|PMID:25324868|PMID:25741868|PMID:26227820|PMID:26266984|PMID:26454440|PMID:26467025|PMID:27928321|PMID:28086082|PMID:28216041|PMID:28481932|PMID:28492532|PMID:28708278|PMID:28991658|PMID:29056270|PMID:30069915|PMID:30902905|PMID:31074578|PMID:31104286|PMID:31526374|PMID:32003821|PMID:32047678|PMID:32101828|PMID:33247909|PMID:33920672|PMID:34946879|PMID:35053399|PMID:7581394|PMID:7668254|PMID:7717396|PMID:7825602|PMID:7849723|PMID:8535452|PMID:8566952|PMID:8651290|PMID:9088111|PMID:9195223|PMID:9242200|PMID:9425230|PMID:9553942|PMID:9712540|PMID:9846054 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:9002720 Splenomegaly ISO RGD:1352747 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:9006230 Neurologic Gait Disorders ISO RGD:1352747 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Spastic gait PMID:21966424|PMID:22479560|PMID:25741868|PMID:26454440|PMID:28481932|PMID:28492532|PMID:31104286|PMID:8535452|PMID:9242200|PMID:9846054 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:9006534 Nervous System Malformations ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 9044597 Abcd1 ATP binding cassette subfamily D member 1 gene DOID:9588 encephalitis ISO RGD:1352747 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalitis PMID:11748843|PMID:16199547|PMID:25741868|PMID:28492532 9044610 Gng7 G protein subunit gamma 7 gene DOID:630 genetic disease ISO RGD:1348974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044610 Gng7 G protein subunit gamma 7 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1348974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18219292 9044610 Gng7 G protein subunit gamma 7 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9044625 Zfpl1 zinc finger protein like 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1350269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9044625 Zfpl1 zinc finger protein like 1 gene DOID:1059 intellectual disability ISO RGD:1350269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9044625 Zfpl1 zinc finger protein like 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1350269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9044625 Zfpl1 zinc finger protein like 1 gene DOID:2746 glycogen storage disease V ISO RGD:1350269 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9044625 Zfpl1 zinc finger protein like 1 gene DOID:3070 high grade glioma ISO RGD:1350269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9044625 Zfpl1 zinc finger protein like 1 gene DOID:630 genetic disease ISO RGD:1350269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044640 Iqcc IQ motif containing C gene DOID:11612 polycystic ovary syndrome ISO RGD:1343946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9044640 Iqcc IQ motif containing C gene DOID:630 genetic disease ISO RGD:1343946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0080205 CAKUT ISO RGD:1315178 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:12766769|PMID:16199547|PMID:18671281|PMID:25741868|PMID:28492532|PMID:28844315|PMID:30143558|PMID:34246755 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0090001 Fraser syndrome ISO RGD:1315178 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:12766769|PMID:16199547|PMID:18671281|PMID:25741868|PMID:28492532|PMID:28844315|PMID:34246755 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:21900877|PMID:25741868|PMID:28492532 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1315178 D RGD:7240710 20180130 OMIM 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0111405 Fraser syndrome 1 ISO RGD:1315178 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1 PMID:12766769|PMID:16199547|PMID:16894541|PMID:17163535|PMID:17576681|PMID:18671281|PMID:21900877|PMID:22029163|PMID:23532946|PMID:24476948|PMID:24551978|PMID:24583203|PMID:24700879|PMID:25353622|PMID:25741868|PMID:26302956|PMID:26893459|PMID:27280866|PMID:27859469|PMID:27884173|PMID:28492532|PMID:28844315|PMID:29261186|PMID:30639323|PMID:31308072|PMID:31319225|PMID:31738409|PMID:31923588|PMID:31999076|PMID:32436246|PMID:32488952|PMID:33726816|PMID:34246755|PMID:34906515|PMID:34974531|PMID:35005812|PMID:9536098 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1315178 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24700879|PMID:25353622|PMID:26893459|PMID:28492532|PMID:31308072|PMID:34906515 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:10907 microcephaly ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:11836 clubfoot ISO RGD:1315179 D RGD:9068941 20220825 MouseDO OMIM:119800 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:14686 Axenfeld-Rieger syndrome ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rieger anomaly PMID:26893459|PMID:28492532 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:14766 renal agenesis ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal agenesis PMID:25741868|PMID:35005812 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:2661 myoepithelioma ISO RGD:1315178 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1315178 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:630 genetic disease ISO RGD:1315178 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32643034 9044652 Fras1 Fraser extracellular matrix complex subunit 1 gene DOID:9008205 Macrostomia ISO RGD:1315178 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17163535 9044740 Tmem126a transmembrane protein 126A gene DOID:0111412 exudative vitreoretinopathy 1 ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21097938|PMID:21681106 9044740 Tmem126a transmembrane protein 126A gene DOID:0111437 optic atrophy 7 ISO RGD:1604272 D RGD:7240710 20180130 OMIM 9044740 Tmem126a transmembrane protein 126A gene DOID:0111437 optic atrophy 7 ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7 PMID:19327736|PMID:20405026|PMID:22815638|PMID:25741868|PMID:28492532|PMID:30369941 9044740 Tmem126a transmembrane protein 126A gene DOID:1059 intellectual disability ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9044740 Tmem126a transmembrane protein 126A gene DOID:630 genetic disease ISO RGD:1604272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9044740 Tmem126a transmembrane protein 126A gene DOID:9005850 Hereditary Optic Atrophies ISO RGD:1604272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic Atrophy, Recessive 9044756 Dnajc9 DnaJ heat shock protein family (Hsp40) member C9 gene DOID:630 genetic disease ISO RGD:1312781 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044756 Dnajc9 DnaJ heat shock protein family (Hsp40) member C9 gene DOID:9009141 Joubert Syndrome 36 ISO RGD:1312781 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Joubert syndrome 36 PMID:25741868 9044765 Gck glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10525657|PMID:10694920|PMID:10753050|PMID:11508276|PMID:12442280|PMID:12627330|PMID:12955723|PMID:14517946|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15277402|PMID:15305805|PMID:16602010|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:18271687|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19790256|PMID:19903754|PMID:20337973|PMID:21348868|PMID:21518409|PMID:21521320|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22820548|PMID:23433541|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24568320|PMID:24578721|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25525159|PMID:25555642|PMID:25741868|PMID:26467025|PMID:27080136|PMID:27167055|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28492532|PMID:28842611|PMID:29284910|PMID:29510678|PMID:30086370|PMID:30257192|PMID:30592380|PMID:31197960|PMID:31957151|PMID:32074423|PMID:32375122|PMID:33072637|PMID:33129248|PMID:7553875|PMID:8068341|PMID:8168652|PMID:8446612|PMID:9049484|PMID:9867845 9044765 Gck glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:26123671|PMID:26467025|PMID:26552609|PMID:26587058|PMID:27080136|PMID:27106716|PMID:27167055|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30663027|PMID:31197960|PMID:31216263|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32074423|PMID:32375122|PMID:33072637|PMID:33129248|PMID:33477506|PMID:34373539|PMID:34440516|PMID:34746319|PMID:35592779|PMID:36257325|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9662401|PMID:9867845 9044765 Gck glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:10868935|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16199547|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29329106|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32041611|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33324081|PMID:33477506|PMID:33565752|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34440516|PMID:34532767|PMID:34746319|PMID:34789499|PMID:35592779|PMID:36257325|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9536098|PMID:9662401|PMID:9867845 9044765 Gck glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:10868935|PMID:11106831|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16199547|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22065275|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24549415|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29329106|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30386132|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:30977832|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32041611|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33324081|PMID:33477506|PMID:33565752|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34440516|PMID:34532767|PMID:34556497|PMID:34662886|PMID:34686905|PMID:34746319|PMID:34789499|PMID:35176401|PMID:35592779|PMID:35737141|PMID:36208030|PMID:36227502|PMID:36257325|PMID:36400171|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8376578|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9536098|PMID:9662401|PMID:9867845 9044765 Gck glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:10868935|PMID:11106831|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11553210|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16199547|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22065275|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24549415|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29329106|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30386132|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:30977832|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31638168|PMID:31704690|PMID:31957151|PMID:32041611|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33324081|PMID:33477506|PMID:33565752|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34440516|PMID:34556497|PMID:34662886|PMID:34686905|PMID:34746319|PMID:35176401|PMID:35592779|PMID:35737141|PMID:36208030|PMID:36227502|PMID:36257325|PMID:36400171|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8376578|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9536098|PMID:9662401|PMID:9867845 9044765 Gck glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:10868935|PMID:11106831|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16199547|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22065275|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24549415|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25935773|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29329106|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30386132|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:30977832|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31595705|PMID:31638168|PMID:31704690|PMID:31957151|PMID:31968686|PMID:32041611|PMID:32074423|PMID:32086287|PMID:32375122|PMID:32533152|PMID:32741144|PMID:32792356|PMID:32906206|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33294763|PMID:33324081|PMID:33477506|PMID:33565752|PMID:33852230|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34406393|PMID:34440516|PMID:34469064|PMID:34496959|PMID:34556497|PMID:34662886|PMID:34686905|PMID:34746319|PMID:35176401|PMID:35592779|PMID:35737141|PMID:36178555|PMID:36208030|PMID:36227502|PMID:36257325|PMID:36400171|PMID:36504295|PMID:37101203|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8376578|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9536098|PMID:9662401|PMID:9867845 9044765 Gck glucokinase gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:735697 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:10868935|PMID:11106831|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11772903|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15277402|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:15788789|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16199547|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21720051|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22065275|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23295292|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:23957911|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24549415|PMID:24568320|PMID:24578721|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25525159|PMID:25555642|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25921421|PMID:25935773|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26641800|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29284910|PMID:29329106|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29704611|PMID:29777474|PMID:29927023|PMID:29944009|PMID:30086370|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30362177|PMID:30386132|PMID:30447144|PMID:30590153|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:30977832|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31595705|PMID:31638168|PMID:31704690|PMID:31957151|PMID:31968686|PMID:32041611|PMID:32074423|PMID:32086287|PMID:32370465|PMID:32375122|PMID:32468610|PMID:32533152|PMID:32741144|PMID:32792356|PMID:32906206|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33294763|PMID:33324081|PMID:33477506|PMID:33565752|PMID:33852230|PMID:34108472|PMID:34373539|PMID:34393998|PMID:34406393|PMID:34440516|PMID:34462253|PMID:34469064|PMID:34496959|PMID:34556497|PMID:34662886|PMID:34686905|PMID:34746319|PMID:35069449|PMID:35176401|PMID:35472491|PMID:35592779|PMID:35737141|PMID:36178555|PMID:36208030|PMID:36227502|PMID:36257325|PMID:36400171|PMID:36504295|PMID:37101203|PMID:7553875|PMID:7555485|PMID:7619052|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8376578|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9536098|PMID:9662401|PMID:9867845 9044765 Gck glucokinase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10447526|PMID:11315850|PMID:11315851|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:15305805|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16963153|PMID:16965331|PMID:17573900|PMID:17576681|PMID:18271687|PMID:19790256|PMID:20132997|PMID:21604084|PMID:22493702|PMID:22611063|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25741868|PMID:25850297|PMID:26467025|PMID:27269892|PMID:28492532|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33072637|PMID:33129248|PMID:7555485|PMID:8068341|PMID:8349034|PMID:8433729|PMID:8454109|PMID:9536098 9044765 Gck glucokinase gene DOID:0060334 transient neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:10447526|PMID:11315850|PMID:11315851|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:15305805|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16963153|PMID:16965331|PMID:17573900|PMID:17576681|PMID:18271687|PMID:19790256|PMID:20132997|PMID:21604084|PMID:22493702|PMID:22611063|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25741868|PMID:25850297|PMID:26467025|PMID:27269892|PMID:27913849|PMID:28492532|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33072637|PMID:33129248|PMID:7555485|PMID:8068341|PMID:8349034|PMID:8433729|PMID:8454109|PMID:9536098 9044765 Gck glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10426385|PMID:10447526|PMID:10525657|PMID:10754480|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:15102714|PMID:15305805|PMID:15644838|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16602010|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17573900|PMID:17576681|PMID:18056790|PMID:18271687|PMID:18382660|PMID:18397317|PMID:18399931|PMID:18414213|PMID:19790256|PMID:19884385|PMID:20132997|PMID:20337973|PMID:21395678|PMID:21437567|PMID:21604084|PMID:22291974|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:23624530|PMID:23771172|PMID:23778137|PMID:24033266|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25082184|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26123671|PMID:26467025|PMID:27080136|PMID:27188453|PMID:27634015|PMID:27913849|PMID:28247534|PMID:28323911|PMID:28492532|PMID:28726111|PMID:29510678|PMID:31957151|PMID:33072637|PMID:7555485|PMID:8068341|PMID:8132752|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:9049484|PMID:9536098 9044765 Gck glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10426385|PMID:10447526|PMID:10525657|PMID:10754480|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15102714|PMID:15305805|PMID:15644838|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16602010|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17573900|PMID:17576681|PMID:18056790|PMID:18271687|PMID:18397317|PMID:18399931|PMID:18414213|PMID:19790256|PMID:19884385|PMID:20132997|PMID:20301620|PMID:20337973|PMID:21395678|PMID:21437567|PMID:21604084|PMID:21720051|PMID:22291974|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22761713|PMID:23624530|PMID:23771172|PMID:23778137|PMID:24033266|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25082184|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26123671|PMID:26467025|PMID:27080136|PMID:27188453|PMID:27269892|PMID:27634015|PMID:27913849|PMID:28247534|PMID:28323911|PMID:28492532|PMID:28726111|PMID:29510678|PMID:30257192|PMID:31197960|PMID:31957151|PMID:32375122|PMID:33072637|PMID:33129248|PMID:36257325|PMID:7555485|PMID:8068341|PMID:8132752|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:9049484|PMID:9536098 9044765 Gck glucokinase gene DOID:0060639 permanent neonatal diabetes mellitus ISO RGD:735697 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10447526|PMID:10525657|PMID:10754480|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15102714|PMID:15305805|PMID:15644838|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16731834|PMID:16963153|PMID:16965331|PMID:17186219|PMID:17573900|PMID:17576681|PMID:18056790|PMID:18271687|PMID:18397317|PMID:18399931|PMID:19790256|PMID:19884385|PMID:20132997|PMID:20301620|PMID:20337973|PMID:21395678|PMID:21437567|PMID:21604084|PMID:21720051|PMID:21831042|PMID:22291974|PMID:22493702|PMID:22611063|PMID:22761713|PMID:23624530|PMID:23771172|PMID:23778137|PMID:24097065|PMID:24518839|PMID:24578721|PMID:24728127|PMID:25015100|PMID:25082184|PMID:25306193|PMID:25414397|PMID:25494859|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26123671|PMID:26467025|PMID:27188453|PMID:27269892|PMID:27634015|PMID:27913849|PMID:28247534|PMID:28323911|PMID:28331372|PMID:28492532|PMID:28726111|PMID:29056535|PMID:29510678|PMID:30191644|PMID:30257192|PMID:31197960|PMID:31216263|PMID:31595705|PMID:31957151|PMID:31968686|PMID:32041611|PMID:32086287|PMID:32375122|PMID:33072637|PMID:33129248|PMID:33294763|PMID:33565752|PMID:34406393|PMID:34496959|PMID:34746319|PMID:35737141|PMID:36178555|PMID:36257325|PMID:36504295|PMID:7555485|PMID:8068341|PMID:8132752|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:9536098 9044765 Gck glucokinase gene DOID:0070216 familial hyperinsulinemic hypoglycemia 3 ISO RGD:735697 D RGD:7240710 20180130 OMIM 9044765 Gck glucokinase gene DOID:0070216 familial hyperinsulinemic hypoglycemia 3 ISO RGD:735697 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency PMID:10447526|PMID:10455021|PMID:10525657|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11916951|PMID:11942313|PMID:12442280|PMID:12627330|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1502186|PMID:15277402|PMID:15305805|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16963153|PMID:16965331|PMID:17082186|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18271687|PMID:19146401|PMID:19790256|PMID:20132997|PMID:20301620|PMID:20375417|PMID:21569204|PMID:21604084|PMID:21720051|PMID:22335469|PMID:22493702|PMID:22611063|PMID:23771925|PMID:24097065|PMID:24323243|PMID:24518839|PMID:24578721|PMID:24728127|PMID:24735133|PMID:25015100|PMID:2555564|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26467025|PMID:27269892|PMID:27913849|PMID:28492532|PMID:29056535|PMID:29510678|PMID:30257192|PMID:31094068|PMID:31197960|PMID:31291970|PMID:31638168|PMID:31957151|PMID:32375122|PMID:32533152|PMID:32792356|PMID:33072637|PMID:33129248|PMID:33852230|PMID:34686905|PMID:34746319|PMID:35472491|PMID:36257325|PMID:7553875|PMID:7555485|PMID:8068341|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8495817|PMID:9049484|PMID:9435328|PMID:9469993|PMID:9536098|PMID:9867845 9044765 Gck glucokinase gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:735697 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10753050|PMID:11315828|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1502186|PMID:15305805|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:18481947|PMID:19002431|PMID:19309449|PMID:19515026|PMID:19564454|PMID:19790256|PMID:20301620|PMID:20337973|PMID:21104275|PMID:21348868|PMID:21569204|PMID:21604084|PMID:21720051|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22060211|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:22820548|PMID:23275527|PMID:23295287|PMID:23295292|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:2555564|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26641800|PMID:27080136|PMID:27185633|PMID:27256595|PMID:27269892|PMID:27271189|PMID:27913849|PMID:28012402|PMID:28170077|PMID:28492532|PMID:28663157|PMID:28701371|PMID:28726111|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29777474|PMID:29927023|PMID:30191644|PMID:30257192|PMID:30259503|PMID:30590153|PMID:30592380|PMID:30656436|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31638168|PMID:31957151|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:32792356|PMID:33046911|PMID:33129248|PMID:33477506|PMID:33852230|PMID:34023340|PMID:34393998|PMID:34440516|PMID:34532767|PMID:34686905|PMID:34746319|PMID:34789499|PMID:35472491|PMID:36257325|PMID:36400171|PMID:7553875|PMID:8094163|PMID:8094164|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8495817|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9867845 9044765 Gck glucokinase gene DOID:0111100 maturity-onset diabetes of the young type 2 ISO RGD:735697 D RGD:7240710 20180130 OMIM 9044765 Gck glucokinase gene DOID:0111100 maturity-onset diabetes of the young type 2 ISO RGD:735697 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10754480|PMID:11079754|PMID:11106831|PMID:11315828|PMID:11315850|PMID:11315851|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11692182|PMID:11772903|PMID:11942313|PMID:12050210|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1303265|PMID:1349989|PMID:1354782|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15305805|PMID:15448103|PMID:1545870|PMID:15580558|PMID:15657605|PMID:15667334|PMID:15677479|PMID:1570017|PMID:15841481|PMID:15918042|PMID:15928245|PMID:16173921|PMID:16199547|PMID:16444761|PMID:16502298|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16938872|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17353190|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18298419|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18407139|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19002431|PMID:19069349|PMID:19187021|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19564454|PMID:19790256|PMID:19903754|PMID:20005544|PMID:20132997|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21395678|PMID:21420961|PMID:21437567|PMID:21518409|PMID:21521320|PMID:21569204|PMID:21604084|PMID:21696527|PMID:21720051|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22101819|PMID:22291974|PMID:22298776|PMID:22332836|PMID:22335469|PMID:22341299|PMID:22389783|PMID:22493702|PMID:22525692|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22773699|PMID:22808921|PMID:22820548|PMID:23009393|PMID:23085272|PMID:23155715|PMID:23295287|PMID:23295292|PMID:23433541|PMID:23771172|PMID:23771925|PMID:23890519|PMID:24001579|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24411943|PMID:24430320|PMID:24518839|PMID:24549415|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24677712|PMID:24728127|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25082184|PMID:25174781|PMID:25182307|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25494859|PMID:2555564|PMID:25555642|PMID:25723349|PMID:25741868|PMID:25755231|PMID:25850297|PMID:25921421|PMID:25935773|PMID:26059258|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26287533|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26641800|PMID:26669242|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27185633|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27271189|PMID:27634015|PMID:27913849|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28555465|PMID:28575730|PMID:28663157|PMID:28701371|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29329106|PMID:29412391|PMID:29417725|PMID:29424410|PMID:29510678|PMID:29704611|PMID:29758564|PMID:29777474|PMID:29792621|PMID:29927023|PMID:30053375|PMID:30086370|PMID:30105470|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30592380|PMID:30608898|PMID:30656436|PMID:30663027|PMID:30977832|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31264968|PMID:31576961|PMID:31595705|PMID:31604004|PMID:31638168|PMID:31956423|PMID:31957151|PMID:31968686|PMID:32017842|PMID:32041611|PMID:32074423|PMID:32086287|PMID:32375122|PMID:32468610|PMID:32531870|PMID:32533152|PMID:32741144|PMID:32792356|PMID:32906206|PMID:33046911|PMID:33072637|PMID:33129248|PMID:33242514|PMID:33294763|PMID:33324081|PMID:33477506|PMID:33565752|PMID:33852230|PMID:34023340|PMID:34108472|PMID:34221822|PMID:34373539|PMID:34393998|PMID:34406393|PMID:34421822|PMID:34440516|PMID:34496959|PMID:34532767|PMID:34556497|PMID:34662886|PMID:34686905|PMID:34746319|PMID:34789499|PMID:35069449|PMID:35112188|PMID:35176401|PMID:35472491|PMID:35592779|PMID:35737141|PMID:36178555|PMID:36208030|PMID:36208343|PMID:36227502|PMID:36257325|PMID:36400171|PMID:36504295|PMID:36836406|PMID:37101203|PMID:7542040|PMID:7553875|PMID:7555485|PMID:8068341|PMID:8094163|PMID:8094164|PMID:8132752|PMID:8168652 9044765 Gck glucokinase gene DOID:0111100 maturity-onset diabetes of the young type 2 ISO RGD:735697 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 PMID:8314448|PMID:8325892|PMID:8349034|PMID:8376578|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8495817|PMID:8897004|PMID:8932999|PMID:9049484|PMID:9078243|PMID:9472859|PMID:9536098|PMID:9662401|PMID:9713013|PMID:9736233|PMID:9867845 9044765 Gck glucokinase gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:735697 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:10525657|PMID:10694920|PMID:1464666|PMID:1502186|PMID:17573900|PMID:19790256|PMID:19903754|PMID:21518409|PMID:22060211|PMID:22611063|PMID:25174781|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28726111|PMID:29329106|PMID:29417725|PMID:29927023|PMID:30259503|PMID:30663027|PMID:32375122|PMID:32741144|PMID:33242514|PMID:33324081|PMID:34440516|PMID:36257325|PMID:8446612|PMID:9049484 9044765 Gck glucokinase gene DOID:10763 hypertension susceptibility ISO RGD:735697 D RGD:9068941 20200609 RGD PMID:9324112|REF_RGD_ID:1581877 9044765 Gck glucokinase gene DOID:11714 gestational diabetes ISO RGD:735697 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gestational diabetes PMID:10525657|PMID:10754480|PMID:11508276|PMID:12442280|PMID:14517946|PMID:14517956|PMID:15102714|PMID:15305805|PMID:15928245|PMID:16173921|PMID:16731834|PMID:17186219|PMID:17389332|PMID:17937063|PMID:18056790|PMID:18414213|PMID:19790256|PMID:20337973|PMID:21395678|PMID:21831042|PMID:21921030|PMID:21978167|PMID:22028181|PMID:22065275|PMID:22493702|PMID:22820548|PMID:23771172|PMID:24033266|PMID:24568320|PMID:24578721|PMID:24735133|PMID:25082184|PMID:25306193|PMID:25494859|PMID:25555642|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29056535|PMID:29510678|PMID:29777474|PMID:30191644|PMID:31216263|PMID:31595705|PMID:31968686|PMID:32074423|PMID:32086287|PMID:34406393|PMID:34496959|PMID:35737141|PMID:36257325|PMID:36504295|PMID:8068341|PMID:8132752|PMID:8433729|PMID:8446612 9044765 Gck glucokinase gene DOID:11717 neonatal diabetes ISO RGD:735697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:27269892|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 9044765 Gck glucokinase gene DOID:13317 hyperinsulinemic hypoglycemia ISO RGD:731555 D RGD:9068941 20220825 MouseDO OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 9044765 Gck glucokinase gene DOID:2018 hyperinsulinism ISO RGD:735697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperinsulinism, Dominant PMID:27269892|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 9044765 Gck glucokinase gene DOID:3393 coronary artery disease susceptibility ISO RGD:735697 D RGD:9068941 20200806 RGD DNA:SNP:promoter:-30G>A (human) PMID:15173029|REF_RGD_ID:2301876 9044765 Gck glucokinase gene DOID:4195 hyperglycemia ISO RGD:735697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056790 9044765 Gck glucokinase gene DOID:4195 hyperglycemia treatment ISO RGD:731555 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:21937665|REF_RGD_ID:7488968 9044765 Gck glucokinase gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9044765 Gck glucokinase gene DOID:630 genetic disease ISO RGD:735697 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11393552|PMID:19790256|PMID:19884385|PMID:21831042|PMID:22101819|PMID:24735133|PMID:25741868|PMID:26467025|PMID:27188453|PMID:27269892|PMID:28170077|PMID:28247534|PMID:28492532|PMID:28555465|PMID:28726111|PMID:29510678|PMID:30257192|PMID:30259503|PMID:30362177|PMID:31197960|PMID:31576961|PMID:32375122|PMID:33129248 9044765 Gck glucokinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980 9044765 Gck glucokinase gene DOID:9002261 Permanent Neonatal Diabetes Mellitus 1 ISO RGD:735697 D RGD:7240710 20200506 OMIM 9044765 Gck glucokinase gene DOID:9002261 Permanent Neonatal Diabetes Mellitus 1 ISO RGD:735697 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1 PMID:10525657|PMID:11372010|PMID:14578306|PMID:1502186|PMID:17573900|PMID:17937063|PMID:20301620|PMID:21569204|PMID:21720051|PMID:22335469|PMID:23771925|PMID:24323243|PMID:24735133|PMID:25015100|PMID:2555564|PMID:25555642|PMID:25741868|PMID:26467025|PMID:27269892|PMID:28492532|PMID:29056535|PMID:29510678|PMID:30257192|PMID:31197960|PMID:31638168|PMID:31957151|PMID:32375122|PMID:32533152|PMID:32792356|PMID:33129248|PMID:33852230|PMID:34686905|PMID:34746319|PMID:36257325|PMID:7553875|PMID:8325892|PMID:8446612|PMID:8495817|PMID:9049484|PMID:9867845 9044765 Gck glucokinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2670 D RGD:9068941 20200609 RGD protein:decreased activity:liver:reduced activity, energy of activation and affinity for glucose in streptozotocin diabetic rats PMID:2132180|REF_RGD_ID:2301955 9044765 Gck glucokinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735697 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 9044765 Gck glucokinase gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:731555 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 9044765 Gck glucokinase gene DOID:9006828 Congenital Hyperinsulinism ISO RGD:735697 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial hyperinsulinism PMID:19053014|PMID:19336674|PMID:21831042|PMID:23890519|PMID:25733449|PMID:27802864|PMID:31094068|PMID:34532767|PMID:34680961 9044765 Gck glucokinase gene DOID:9007692 Insulin Resistance ISO RGD:2670 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:19039094|REF_RGD_ID:7488970 9044765 Gck glucokinase gene DOID:9008691 Liver Injury ISO RGD:2670 D RGD:9068941 20200609 RGD protein:increased nitration, increased oxidation, decreased expression, decreased activity:liver PMID:22884880|REF_RGD_ID:7488971 9044765 Gck glucokinase gene DOID:9351 diabetes mellitus ISO RGD:735697 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10447526|PMID:10525657|PMID:11079754|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:12955723|PMID:14517946|PMID:14517956|PMID:15102714|PMID:15305805|PMID:15448103|PMID:15667334|PMID:15752705|PMID:16444761|PMID:16602010|PMID:16731834|PMID:16965331|PMID:17204055|PMID:17353190|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18056790|PMID:18399931|PMID:18407139|PMID:18414213|PMID:18481947|PMID:19069349|PMID:19150152|PMID:19187021|PMID:19228875|PMID:19339519|PMID:19358091|PMID:19551638|PMID:19564454|PMID:19790256|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21521320|PMID:21831042|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22065275|PMID:22289546|PMID:22332836|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:23433541|PMID:23506826|PMID:24430320|PMID:24518839|PMID:24660669|PMID:24918535|PMID:25015100|PMID:25182307|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27059371|PMID:27080136|PMID:27106716|PMID:28492532|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29207974|PMID:29510678|PMID:30053375|PMID:30105470|PMID:30155490|PMID:30245511|PMID:31638168|PMID:32375122|PMID:34440516|PMID:7542040|PMID:8325892|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004 9044765 Gck glucokinase gene DOID:9351 diabetes mellitus ISO RGD:735697 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10694920|PMID:10753050|PMID:10868935|PMID:11079754|PMID:11372010|PMID:11393552|PMID:11508276|PMID:11942313|PMID:12050210|PMID:12442280|PMID:12627330|PMID:12955723|PMID:1354782|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1464666|PMID:1502186|PMID:15102714|PMID:15305805|PMID:15448103|PMID:15644838|PMID:15667334|PMID:15677479|PMID:15752705|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16938872|PMID:16963153|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17204055|PMID:17353190|PMID:17389332|PMID:17573900|PMID:17576681|PMID:17937063|PMID:18056790|PMID:18248649|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18407139|PMID:18411240|PMID:18414213|PMID:18481947|PMID:19069349|PMID:19150152|PMID:19187021|PMID:19228875|PMID:19309449|PMID:19339519|PMID:19358091|PMID:19410318|PMID:19551638|PMID:19564454|PMID:19790256|PMID:19903754|PMID:19934346|PMID:20301620|PMID:20337973|PMID:20458967|PMID:21104275|PMID:21348868|PMID:21437567|PMID:21454584|PMID:21518409|PMID:21521320|PMID:21720051|PMID:21831042|PMID:21978167|PMID:22028181|PMID:22035297|PMID:22060211|PMID:22065275|PMID:22101819|PMID:22289546|PMID:22291974|PMID:22332836|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22525692|PMID:22540858|PMID:22611063|PMID:22761713|PMID:22771492|PMID:22773699|PMID:23295292|PMID:23306198|PMID:23352578|PMID:23433541|PMID:23506826|PMID:23771172|PMID:23771925|PMID:24001579|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24411943|PMID:24430320|PMID:24518839|PMID:24549415|PMID:24578721|PMID:24606082|PMID:24660669|PMID:24677712|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25174781|PMID:25182307|PMID:25203462|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26123671|PMID:26208450|PMID:26226118|PMID:26287533|PMID:26467025|PMID:26552609|PMID:26641800|PMID:26698632|PMID:27059371|PMID:27080136|PMID:27106716|PMID:27256595|PMID:27256596|PMID:27269892|PMID:27271189|PMID:27913849|PMID:27935851|PMID:28012402|PMID:28170077|PMID:28323911|PMID:28371533|PMID:28492532|PMID:28512030|PMID:28555465|PMID:28663157|PMID:28726111|PMID:28842611|PMID:29056535|PMID:29207974|PMID:29329106|PMID:29417725|PMID:29510678|PMID:29704611|PMID:29758564|PMID:29927023|PMID:29944009|PMID:30053375|PMID:30105470|PMID:30155490|PMID:30191644|PMID:30245511|PMID:30257192|PMID:30259503|PMID:30447144|PMID:30592380|PMID:30656436|PMID:30663027|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31291970|PMID:31416898|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31704690|PMID:31753287|PMID:31957151|PMID:32041611|PMID:32086287|PMID:32375122|PMID:32533152|PMID:32533685|PMID:32741144|PMID:33046911|PMID:33129248|PMID:33242514|PMID:33294763|PMID:33324081|PMID:33477506|PMID:33565752|PMID:33852230|PMID:34108472|PMID:34221822|PMID:34373539|PMID:34393998|PMID:34421822|PMID:34440516|PMID:34469064|PMID:34556497|PMID:34662886|PMID:34686905|PMID:34746319|PMID:34789499|PMID:34826540|PMID:35176401|PMID:35472491|PMID:35592779|PMID:35733065|PMID:35737141|PMID:36178555|PMID:36208030|PMID:36208343|PMID:36227502|PMID:36257325|PMID:36400171|PMID:37101203|PMID:7542040|PMID:7553875|PMID:7619052|PMID:8068341|PMID:8168652|PMID:8325892|PMID:8433729|PMID:8446612|PMID:8454109|PMID:8897004|PMID:8933019|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9472859|PMID:9536098|PMID:9662401|PMID:9713013|PMID:9736233|PMID:9867845 9044765 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:7240710 20180130 OMIM 9044765 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10753050|PMID:11315828|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:15305805|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:19002431|PMID:19309449|PMID:19515026|PMID:19790256|PMID:20337973|PMID:21104275|PMID:21348868|PMID:21604084|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22060211|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:22820548|PMID:23295287|PMID:23295292|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:25555642|PMID:25741868|PMID:26467025|PMID:26552609|PMID:27080136|PMID:27185633|PMID:27269892|PMID:27271189|PMID:28012402|PMID:28170077|PMID:28492532|PMID:28663157|PMID:28701371|PMID:28726111|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29777474|PMID:29927023|PMID:30191644|PMID:30257192|PMID:30590153|PMID:30592380|PMID:30656436|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31638168|PMID:31957151|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:33046911|PMID:33129248|PMID:33477506|PMID:34023340|PMID:34393998|PMID:34440516|PMID:36257325|PMID:7553875|PMID:8094163|PMID:8094164|PMID:8168652|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9867845 9044765 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus ISO RGD:735697 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10426385|PMID:10447526|PMID:10455021|PMID:10525657|PMID:10753050|PMID:11315828|PMID:11372010|PMID:11508276|PMID:11942313|PMID:12442280|PMID:12627330|PMID:1360036|PMID:1397713|PMID:14517946|PMID:14517956|PMID:14578306|PMID:1502186|PMID:15305805|PMID:15841481|PMID:15928245|PMID:16059790|PMID:16173921|PMID:16444761|PMID:16602010|PMID:16632067|PMID:16731834|PMID:16965331|PMID:17079173|PMID:17186219|PMID:17389332|PMID:17573900|PMID:17937063|PMID:18271687|PMID:18322640|PMID:18382660|PMID:18399931|PMID:18411240|PMID:19002431|PMID:19309449|PMID:19515026|PMID:19564454|PMID:19790256|PMID:20301620|PMID:20337973|PMID:21104275|PMID:21348868|PMID:21569204|PMID:21604084|PMID:21720051|PMID:21831042|PMID:21921030|PMID:22028181|PMID:22060211|PMID:22335469|PMID:22389783|PMID:22493702|PMID:22611063|PMID:22773699|PMID:22820548|PMID:23275527|PMID:23295287|PMID:23295292|PMID:23771925|PMID:24033266|PMID:24097065|PMID:24323243|PMID:24430320|PMID:24518839|PMID:24568320|PMID:24578721|PMID:24660669|PMID:24735133|PMID:24804978|PMID:24918535|PMID:25015100|PMID:25306193|PMID:25414397|PMID:2555564|PMID:25555642|PMID:25741868|PMID:25850297|PMID:26467025|PMID:26552609|PMID:26587058|PMID:26641800|PMID:27080136|PMID:27185633|PMID:27256595|PMID:27269892|PMID:27271189|PMID:27913849|PMID:28012402|PMID:28170077|PMID:28492532|PMID:28663157|PMID:28701371|PMID:28726111|PMID:29056535|PMID:29207974|PMID:29510678|PMID:29777474|PMID:29927023|PMID:30191644|PMID:30257192|PMID:30259503|PMID:30590153|PMID:30592380|PMID:30656436|PMID:31063852|PMID:31197960|PMID:31216263|PMID:31576961|PMID:31638168|PMID:31957151|PMID:32017842|PMID:32074423|PMID:32375122|PMID:32533152|PMID:32741144|PMID:32792356|PMID:33046911|PMID:33129248|PMID:33477506|PMID:33852230|PMID:34023340|PMID:34393998|PMID:34440516|PMID:34686905|PMID:34746319|PMID:35472491|PMID:36257325|PMID:7553875|PMID:8094163|PMID:8094164|PMID:8168652|PMID:8325892|PMID:8349034|PMID:8433729|PMID:8446612|PMID:8495817|PMID:8897004|PMID:9000695|PMID:9049484|PMID:9075802|PMID:9078243|PMID:9435328|PMID:9867845 9044765 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735697 D RGD:9068941 20200609 RGD DNA:microsatellite marker genotypes:3', 5':no association between genotypes of upstream or downstream microsatellite markers and T2DM in Welsh Caucasians PMID:8314445|REF_RGD_ID:2301883 9044765 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:735697 D RGD:9068941 20200609 RGD DNA:polymorphisms:multiple:no association between multiple SSLP and SNP alleles and T2DM in a Japanese population PMID:8200206|REF_RGD_ID:2301887 9044765 Gck glucokinase gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:2670 D RGD:9068941 20200609 RGD PMID:22234649|REF_RGD_ID:7488969 9044765 Gck glucokinase gene DOID:9452 steatotic liver disease ISO RGD:2670 D RGD:9068941 20200609 RGD PMID:22925001|REF_RGD_ID:7488945 9044765 Gck glucokinase gene DOID:9452 steatotic liver disease ISO RGD:731555 D RGD:9068941 20200609 RGD associated with Hyperglycemia PMID:22925001|REF_RGD_ID:7488945 9044765 Gck glucokinase gene DOID:9970 obesity ISO RGD:2670 D RGD:9068941 20200609 RGD DNA, mRNA, protein:hypermethylation, increased expression:liver PMID:21239437|REF_RGD_ID:7488967 9044765 Gck glucokinase gene DOID:9993 hypoglycemia ISO RGD:735697 D RGD:9068941 20200609 RGD hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M PMID:9435328|REF_RGD_ID:1601294 9044780 Fam133a family with sequence similarity 133 member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1602817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9044780 Fam133a family with sequence similarity 133 member A gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1602817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:25741868 9044780 Fam133a family with sequence similarity 133 member A gene DOID:12849 autistic disorder ISO RGD:1602817 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9044780 Fam133a family with sequence similarity 133 member A gene DOID:630 genetic disease ISO RGD:1602817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044796 Tmem179 transmembrane protein 179 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1346739 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 9044804 Isca1 iron-sulfur cluster assembly 1 gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1350652 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome PMID:25741868|PMID:28356563|PMID:30105122|PMID:31580634 9044804 Isca1 iron-sulfur cluster assembly 1 gene DOID:0080274 multiple mitochondrial dysfunctions syndrome 5 ISO RGD:1350652 D RGD:7240710 20190315 OMIM 9044804 Isca1 iron-sulfur cluster assembly 1 gene DOID:0080274 multiple mitochondrial dysfunctions syndrome 5 ISO RGD:1350652 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 5 PMID:25741868|PMID:28356563|PMID:29767723|PMID:30105122|PMID:30113620|PMID:31580634 9044804 Isca1 iron-sulfur cluster assembly 1 gene DOID:630 genetic disease ISO RGD:1350652 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044828 Npvf neuropeptide VF precursor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9044828 Npvf neuropeptide VF precursor gene DOID:630 genetic disease ISO RGD:1350677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044833 Enam enamelin gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1315614 D RGD:7240710 20180130 OMIM 9044833 Enam enamelin gene DOID:0110052 amelogenesis imperfecta type 1B ISO RGD:1315614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B PMID:11487571|PMID:11978766|PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:22414746|PMID:25741868|PMID:28334996|PMID:28492532|PMID:31478359 9044833 Enam enamelin gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1315614 D RGD:7240710 20180130 OMIM 9044833 Enam enamelin gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1315614 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:25741868|PMID:28492532 9044833 Enam enamelin gene DOID:2187 amelogenesis imperfecta ISO RGD:1315614 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:25741868|PMID:28492532 9044833 Enam enamelin gene DOID:630 genetic disease ISO RGD:1315614 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:0050572 cone-rod dystrophy ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:18313024|PMID:20603202|PMID:24355708|PMID:25480986|PMID:25741868|PMID:28492532|PMID:31135245|PMID:31712030|PMID:3963113|PMID:8053762 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:0050753 cerebellar ataxia ISO RGD:1605701 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:0050952 spastic ataxia ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:28492532|PMID:32579787 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:0080490 mucolipidosis type IV ISO RGD:1605701 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:25741868|PMID:26467025|PMID:28492532 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1605701 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1605701 D RGD:7240710 20180130 OMIM 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:0110790 hereditary spastic paraplegia 39 ISO RGD:1605701 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: NTE related motor neuron disorder | ClinVar Annotator: match by term: Spastic paraplegia 39 PMID:16199547|PMID:17576681|PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25133958|PMID:25267340|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:26995604|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29221171|PMID:29248984|PMID:30097146|PMID:30555943|PMID:30564185|PMID:31048186|PMID:31135245|PMID:31712030|PMID:31780887|PMID:32579787|PMID:32586184|PMID:32623594|PMID:32758583|PMID:32870266|PMID:33141049|PMID:33210227|PMID:34103343|PMID:34234304|PMID:34426522|PMID:34445196|PMID:34816117|PMID:35069422|PMID:35198007|PMID:35872528|PMID:3963113|PMID:8053762|PMID:9536098 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1605701 D RGD:7240710 20180130 OMIM 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:0111265 Boucher-Neuhauser syndrome ISO RGD:1605701 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25267340|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29248984|PMID:30555943|PMID:31135245|PMID:31780887|PMID:32623594|PMID:33141049|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528|PMID:3963113|PMID:8053762|PMID:9321767 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:0111271 Oliver-McFarlane syndrome ISO RGD:1605701 D RGD:7240710 20180130 OMIM 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:0111271 Oliver-McFarlane syndrome ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:31780887|PMID:3963113|PMID:8053762 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:1389 polyneuropathy ISO RGD:1605701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22819951 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:13938 amenorrhea ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:1930 Laurence-Moon syndrome ISO RGD:1605701 D RGD:7240710 20180130 OMIM 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:1930 Laurence-Moon syndrome ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Laurence-Moon syndrome PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:3963113|PMID:8053762 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:231 motor neuron disease ISO RGD:1605701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18313024|PMID:20603202 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1605701 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25133958|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:26995604|PMID:27866050|PMID:28492532|PMID:29221171|PMID:29248984|PMID:30555943|PMID:30564185|PMID:31048186|PMID:31135245|PMID:33141049|PMID:34426522|PMID:3963113|PMID:8053762 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:2710 sick building syndrome ISO RGD:1605701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23418070 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:28492532|PMID:32579787 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:3614 Kallmann syndrome ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadism with anosmia PMID:25741868 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:574 peripheral nervous system disease ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:630 genetic disease ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25133958|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:3963113|PMID:8053762|PMID:9536098 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:8501 fundus dystrophy ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:863 nervous system disease ISO RGD:1605701 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8211998 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:870 neuropathy ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:28492532 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:9001722 Dysarthria ISO RGD:1605701 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Dysarthria PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:9002563 Gait Ataxia ISO RGD:1605701 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Gait ataxia PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1605701 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:28492532 9044868 Pnpla6 patatin like phospholipase domain containing 6 gene DOID:9007284 Precocious Puberty ISO RGD:1605701 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 9044923 Dynll2 dynein light chain LC8-type 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:730979 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9044923 Dynll2 dynein light chain LC8-type 2 gene DOID:1059 intellectual disability ISO RGD:730979 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:37071997 9044923 Dynll2 dynein light chain LC8-type 2 gene DOID:630 genetic disease ISO RGD:730979 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044936 Bmt2 base methyltransferase of 25S rRNA 2 homolog gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1606951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9044936 Bmt2 base methyltransferase of 25S rRNA 2 homolog gene DOID:630 genetic disease ISO RGD:1606951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044936 Bmt2 base methyltransferase of 25S rRNA 2 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606951 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9044945 Gpr65 G protein-coupled receptor 65 gene DOID:0110331 Leber congenital amaurosis 3 ISO RGD:1323495 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 9044945 Gpr65 G protein-coupled receptor 65 gene DOID:630 genetic disease ISO RGD:1323495 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044945 Gpr65 G protein-coupled receptor 65 gene DOID:8577 ulcerative colitis ISO RGD:1323495 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30616622 9044954 Scap SREBF chaperone gene DOID:630 genetic disease ISO RGD:1604827 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9044954 Scap SREBF chaperone gene DOID:684 hepatocellular carcinoma ISO RGD:1604827 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831 9044954 Scap SREBF chaperone gene DOID:783 end stage renal disease multiple interactions ISO RGD:1309378 D RGD:9068941 20230914 RGD PMID:19878707|REF_RGD_ID:2326081 9044954 Scap SREBF chaperone gene DOID:9000808 Hypercholesterolemia ISO RGD:1309378 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:16741953|REF_RGD_ID:1581819 9044954 Scap SREBF chaperone gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1604827 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 9044954 Scap SREBF chaperone gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309378 D RGD:9068941 20200609 RGD PMID:20973890|REF_RGD_ID:5490977 9044978 Nrk Nik related kinase gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9044978 Nrk Nik related kinase gene DOID:12849 autistic disorder ISO RGD:1344667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9044978 Nrk Nik related kinase gene DOID:630 genetic disease ISO RGD:1344667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9045011 Unc79 unc-79 homolog, NALCN channel complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1322833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9045011 Unc79 unc-79 homolog, NALCN channel complex subunit gene DOID:0080054 achondrogenesis type IA ISO RGD:1322833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 9045011 Unc79 unc-79 homolog, NALCN channel complex subunit gene DOID:0081063 DICER1 syndrome ISO RGD:1322833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DICER1 syndrome PMID:26545620|PMID:26555935|PMID:28492532 9045011 Unc79 unc-79 homolog, NALCN channel complex subunit gene DOID:10283 prostate cancer ISO RGD:1322833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9045011 Unc79 unc-79 homolog, NALCN channel complex subunit gene DOID:4769 pleuropulmonary blastoma ISO RGD:1322833 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome PMID:26545620|PMID:26555935|PMID:28492532 9045011 Unc79 unc-79 homolog, NALCN channel complex subunit gene DOID:630 genetic disease ISO RGD:1322833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045075 Aldh5a1 aldehyde dehydrogenase 5 family member A1 gene DOID:0060041 autism spectrum disorder ISO RGD:735245 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9045075 Aldh5a1 aldehyde dehydrogenase 5 family member A1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:735245 D RGD:7240710 20180130 OMIM 9045075 Aldh5a1 aldehyde dehydrogenase 5 family member A1 gene DOID:0060175 succinic semialdehyde dehydrogenase deficiency ISO RGD:735245 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency PMID:10633133|PMID:11243727|PMID:11544478|PMID:11901270|PMID:12208142|PMID:12507422|PMID:1301198|PMID:14523039|PMID:14635103|PMID:16115930|PMID:16199547|PMID:16442322|PMID:16542398|PMID:16545979|PMID:17438226|PMID:17576681|PMID:19300440|PMID:19484191|PMID:20304328|PMID:21612881|PMID:22437753|PMID:23430864|PMID:23825041|PMID:23926001|PMID:24033266|PMID:25122112|PMID:25246302|PMID:25363768|PMID:25431891|PMID:25558043|PMID:25741868|PMID:26220405|PMID:26268900|PMID:26964512|PMID:27056292|PMID:27104484|PMID:27117035|PMID:27815844|PMID:27824329|PMID:27896081|PMID:28186584|PMID:28191889|PMID:28407358|PMID:28468868|PMID:28492532|PMID:28664505|PMID:29895405|PMID:30091983|PMID:30829465|PMID:31117962|PMID:31267348|PMID:32005694|PMID:32093054|PMID:32223457|PMID:32238909|PMID:32348839|PMID:32395407|PMID:32402538|PMID:32887777|PMID:32907636|PMID:33203024|PMID:34882073|PMID:9536098|PMID:9683595 9045075 Aldh5a1 aldehyde dehydrogenase 5 family member A1 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:735245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 9045075 Aldh5a1 aldehyde dehydrogenase 5 family member A1 gene DOID:10283 prostate cancer ISO RGD:735245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9045075 Aldh5a1 aldehyde dehydrogenase 5 family member A1 gene DOID:1059 intellectual disability ISO RGD:735245 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9045075 Aldh5a1 aldehyde dehydrogenase 5 family member A1 gene DOID:1826 epilepsy ISO RGD:735245 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 9045075 Aldh5a1 aldehyde dehydrogenase 5 family member A1 gene DOID:543 dystonia ISO RGD:735245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17438226 9045075 Aldh5a1 aldehyde dehydrogenase 5 family member A1 gene DOID:630 genetic disease ISO RGD:735245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11243727|PMID:11544478|PMID:14635103|PMID:16199547|PMID:19484191|PMID:25431891|PMID:25741868|PMID:27104484|PMID:27896081|PMID:28492532|PMID:30091983|PMID:32402538|PMID:33203024|PMID:34882073 9045075 Aldh5a1 aldehyde dehydrogenase 5 family member A1 gene DOID:9003814 Neurologic Manifestations ISO RGD:735245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29031482 9045075 Aldh5a1 aldehyde dehydrogenase 5 family member A1 gene DOID:9005627 Metabolic Brain Diseases ISO RGD:735245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17438226 9045075 Aldh5a1 aldehyde dehydrogenase 5 family member A1 gene DOID:9006205 Animal Disease Models ISO RGD:735245 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29031482 9045088 Tcf7l1 transcription factor 7 like 1 gene DOID:630 genetic disease ISO RGD:1323251 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045088 Tcf7l1 transcription factor 7 like 1 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1323251 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23811263 9045102 Sorbs1 sorbin and SH3 domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1320080 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9045102 Sorbs1 sorbin and SH3 domain containing 1 gene DOID:630 genetic disease ISO RGD:1320080 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045102 Sorbs1 sorbin and SH3 domain containing 1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:1320081 D RGD:9068941 20200609 RGD PMID:17351624|REF_RGD_ID:1642731 9045102 Sorbs1 sorbin and SH3 domain containing 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1320080 D RGD:9068941 20200609 RGD DNA:SNP: :p.T228A (human) PMID:11532984|REF_RGD_ID:1642744 9045102 Sorbs1 sorbin and SH3 domain containing 1 gene DOID:9970 obesity ISO RGD:1320080 D RGD:9068941 20200609 RGD DNA:SNP: :p.T228A (human) PMID:11532984|REF_RGD_ID:1642744 9045150 Cpne4 copine 4 gene DOID:630 genetic disease ISO RGD:1318850 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045150 Cpne4 copine 4 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1318850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 9045150 Cpne4 copine 4 gene DOID:9270 alkaptonuria ISO RGD:1318850 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9045173 Bgn biglycan gene DOID:0050454 periventricular nodular heterotopia ISO RGD:737524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9045173 Bgn biglycan gene DOID:0050476 Barth syndrome ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9045173 Bgn biglycan gene DOID:0050800 cerebral creatine deficiency syndrome 1 ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Creatine transporter deficiency PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9045173 Bgn biglycan gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 9045173 Bgn biglycan gene DOID:0111861 Meester-Loeys syndrome ISO RGD:737524 D RGD:7240710 20200619 OMIM 9045173 Bgn biglycan gene DOID:0111861 Meester-Loeys syndrome ISO RGD:737524 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BGN-related condition | ClinVar Annotator: match by term: Meester-Loeys syndrome PMID:17502576|PMID:25741868|PMID:27632686|PMID:28492532 9045173 Bgn biglycan gene DOID:0112003 immunodeficiency 33 ISO RGD:737524 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Immunodeficiency 33 PMID:25741868 9045173 Bgn biglycan gene DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ISO RGD:737524 D RGD:7240710 20190315 OMIM 9045173 Bgn biglycan gene DOID:0112150 X-linked spondyloepimetaphyseal dysplasia ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia PMID:25741868|PMID:27236923|PMID:28492532|PMID:8064814 9045173 Bgn biglycan gene DOID:10534 stomach cancer severity ISO RGD:737524 D RGD:9068941 20231109 RGD mRNA, protein:increased expression:stomach (human) PMID:33470887|REF_RGD_ID:401854251 9045173 Bgn biglycan gene DOID:10588 adrenoleukodystrophy ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9045173 Bgn biglycan gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9045173 Bgn biglycan gene DOID:12849 autistic disorder ISO RGD:737524 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9045173 Bgn biglycan gene DOID:13628 favism ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:18177777|PMID:28492532 9045173 Bgn biglycan gene DOID:14004 thoracic aortic aneurysm ISO RGD:737524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:27632686 9045173 Bgn biglycan gene DOID:2729 dyskeratosis congenita ISO RGD:737524 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:18177777|PMID:28492532 9045173 Bgn biglycan gene DOID:520 aortic disease ISO RGD:737524 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Familial aortopathy 9045173 Bgn biglycan gene DOID:607 paraplegia ISO RGD:737524 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614 9045173 Bgn biglycan gene DOID:630 genetic disease ISO RGD:737524 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9045173 Bgn biglycan gene DOID:7148 rheumatoid arthritis ISO RGD:737524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15292528 9045173 Bgn biglycan gene DOID:9000918 Disease Progression ISO RGD:737524 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35234341 9045173 Bgn biglycan gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737524 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9045173 Bgn biglycan gene DOID:9002720 Splenomegaly ISO RGD:737524 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Splenomegaly PMID:25741868 9045173 Bgn biglycan gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737524 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35234341 9045173 Bgn biglycan gene DOID:9008939 Breast Neoplasms ISO RGD:737524 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:35234341 9045189 Rnf5 ring finger protein 5 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1352556 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9045189 Rnf5 ring finger protein 5 gene DOID:630 genetic disease ISO RGD:1352556 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045202 Hnrnpm heterogeneous nuclear ribonucleoprotein M gene DOID:0080199 colorectal carcinoma disease_progression ISO RGD:731710 D RGD:9068941 20200609 RGD protein:increased expression:colonic epithelium (human) PMID:24381081|REF_RGD_ID:10054273 9045202 Hnrnpm heterogeneous nuclear ribonucleoprotein M gene DOID:0080490 mucolipidosis type IV ISO RGD:731710 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 9045202 Hnrnpm heterogeneous nuclear ribonucleoprotein M gene DOID:127 leiomyoma ISO RGD:731710 D RGD:9068941 20200609 RGD mRNA:increased expression:uterine myometrium (human) PMID:18566572|REF_RGD_ID:2301090 9045202 Hnrnpm heterogeneous nuclear ribonucleoprotein M gene DOID:12849 autistic disorder ISO RGD:731710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9045202 Hnrnpm heterogeneous nuclear ribonucleoprotein M gene DOID:2843 long QT syndrome ISO RGD:731710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 9045202 Hnrnpm heterogeneous nuclear ribonucleoprotein M gene DOID:630 genetic disease ISO RGD:731710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045238 Trpc1 transient receptor potential cation channel subfamily C member 1 gene DOID:10283 prostate cancer ISO RGD:734058 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9045238 Trpc1 transient receptor potential cation channel subfamily C member 1 gene DOID:10534 stomach cancer severity ISO RGD:734058 D RGD:9068941 20220616 RGD mRNA:altered expression:stomach tumor (human) PMID:28035468|REF_RGD_ID:152995287 9045238 Trpc1 transient receptor potential cation channel subfamily C member 1 gene DOID:630 genetic disease ISO RGD:734058 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045238 Trpc1 transient receptor potential cation channel subfamily C member 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619783 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, liver PMID:18184923|REF_RGD_ID:2301838 9045238 Trpc1 transient receptor potential cation channel subfamily C member 1 gene DOID:9002211 Hyperalgesia ISO RGD:619783 D RGD:9068941 20200609 RGD associated with Inflammation PMID:19439599|REF_RGD_ID:7247605 9045238 Trpc1 transient receptor potential cation channel subfamily C member 1 gene DOID:9003936 Cardiomegaly ISO RGD:734058 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17174323 9045238 Trpc1 transient receptor potential cation channel subfamily C member 1 gene DOID:9005372 Inflammation ISO RGD:734058 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:25736131 9045238 Trpc1 transient receptor potential cation channel subfamily C member 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619783 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney, liver PMID:18184923|REF_RGD_ID:2301838 9045238 Trpc1 transient receptor potential cation channel subfamily C member 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:619783 D RGD:9068941 20200609 RGD protein:increased expression:artery smooth muscle PMID:20337661|REF_RGD_ID:7247596 9045262 Lsr lipolysis stimulated lipoprotein receptor gene DOID:0110222 Brugada syndrome 5 ISO RGD:736744 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 9045262 Lsr lipolysis stimulated lipoprotein receptor gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:736744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9045262 Lsr lipolysis stimulated lipoprotein receptor gene DOID:305 carcinoma ISO RGD:736744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 9045262 Lsr lipolysis stimulated lipoprotein receptor gene DOID:543 dystonia ISO RGD:736744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 9045262 Lsr lipolysis stimulated lipoprotein receptor gene DOID:630 genetic disease ISO RGD:736744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9045262 Lsr lipolysis stimulated lipoprotein receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 9045262 Lsr lipolysis stimulated lipoprotein receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736744 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462|PMID:16316942 9045287 Slc16a8 solute carrier family 16 member 8 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:736227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9045287 Slc16a8 solute carrier family 16 member 8 gene DOID:0080600 COVID-19 ISO RGD:736227 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9045287 Slc16a8 solute carrier family 16 member 8 gene DOID:0090036 myoclonic dystonia 26 ISO RGD:736227 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9045287 Slc16a8 solute carrier family 16 member 8 gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:736227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9045287 Slc16a8 solute carrier family 16 member 8 gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:736227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9045287 Slc16a8 solute carrier family 16 member 8 gene DOID:4448 macular degeneration ISO RGD:736227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26691988 9045287 Slc16a8 solute carrier family 16 member 8 gene DOID:630 genetic disease ISO RGD:736227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045296 Otx1 orthodenticle homeobox 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:736236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9045296 Otx1 orthodenticle homeobox 1 gene DOID:630 genetic disease ISO RGD:736236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045305 Gcfc2 GC-rich sequence DNA-binding factor 2 gene DOID:630 genetic disease ISO RGD:1312440 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045328 Fam168b family with sequence similarity 168 member B gene DOID:2661 myoepithelioma ISO RGD:1606974 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9045328 Fam168b family with sequence similarity 168 member B gene DOID:5419 schizophrenia ISO RGD:1606974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9045328 Fam168b family with sequence similarity 168 member B gene DOID:630 genetic disease ISO RGD:1606974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045347 Rfx8 regulatory factor X8 gene DOID:630 genetic disease ISO RGD:2793201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045371 Emc6 ER membrane protein complex subunit 6 gene DOID:3613 Canavan disease ISO RGD:1606492 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:19932039|PMID:28492532|PMID:7668285 9045371 Emc6 ER membrane protein complex subunit 6 gene DOID:630 genetic disease ISO RGD:1606492 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045377 Glrx2 glutaredoxin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1317443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9045377 Glrx2 glutaredoxin 2 gene DOID:630 genetic disease ISO RGD:1317443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045377 Glrx2 glutaredoxin 2 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1317443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 9045377 Glrx2 glutaredoxin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317443 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9045391 Cthrc1 collagen triple helix repeat containing 1 gene DOID:0111590 Cohen syndrome ISO RGD:1352911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 9045391 Cthrc1 collagen triple helix repeat containing 1 gene DOID:630 genetic disease ISO RGD:1352911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045391 Cthrc1 collagen triple helix repeat containing 1 gene DOID:9206 Barrett's esophagus ISO RGD:1352911 D RGD:7240710 20180130 OMIM 9045391 Cthrc1 collagen triple helix repeat containing 1 gene DOID:9206 Barrett's esophagus ISO RGD:1352911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Barrett esophagus/esophageal adenocarcinoma PMID:21791690 9045398 Spag16 sperm associated antigen 16 gene DOID:0111377 fetal akinesia deformation sequence syndrome 1 ISO RGD:1352269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:31680123 9045398 Spag16 sperm associated antigen 16 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1352269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 9045398 Spag16 sperm associated antigen 16 gene DOID:630 genetic disease ISO RGD:1352269 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045398 Spag16 sperm associated antigen 16 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352269 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9045435 Foxm1 forkhead box M1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:13679865 9045435 Foxm1 forkhead box M1 gene DOID:10534 stomach cancer severity ISO RGD:1604404 D RGD:9068941 20220217 RGD protein:increased expression:stomach (human) PMID:25482013|REF_RGD_ID:151356929 9045435 Foxm1 forkhead box M1 gene DOID:11714 gestational diabetes ISO RGD:62099 D RGD:9068941 20200609 RGD PMID:19833884|REF_RGD_ID:2315927 9045435 Foxm1 forkhead box M1 gene DOID:1240 leukemia ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19436953 9045435 Foxm1 forkhead box M1 gene DOID:1324 lung cancer ISO RGD:62099 D RGD:9068941 20220825 MouseDO OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210 9045435 Foxm1 forkhead box M1 gene DOID:2986 IgA glomerulonephritis ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 9045435 Foxm1 forkhead box M1 gene DOID:3498 pancreatic ductal adenocarcinoma disease_progression ISO RGD:1604404 D RGD:9068941 20230225 RGD PMID:24859161|REF_RGD_ID:156430321 9045435 Foxm1 forkhead box M1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18345025|PMID:19672312 9045435 Foxm1 forkhead box M1 gene DOID:630 genetic disease ISO RGD:1604404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045435 Foxm1 forkhead box M1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15082532|PMID:17173139|PMID:28284560 9045435 Foxm1 forkhead box M1 gene DOID:684 hepatocellular carcinoma ISO RGD:62099 D RGD:9068941 20220825 MouseDO OMIM:114550 9045435 Foxm1 forkhead box M1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15082532 9045435 Foxm1 forkhead box M1 gene DOID:9005172 Lung Neoplasms ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16489016|PMID:23255470 9045435 Foxm1 forkhead box M1 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1604404 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9045435 Foxm1 forkhead box M1 gene DOID:9008939 Breast Neoplasms ISO RGD:1604404 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20208560 9045435 Foxm1 forkhead box M1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:62099 D RGD:9068941 20220825 MouseDO OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036 9045456 Rbm6 RNA binding motif protein 6 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1342651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532 9045456 Rbm6 RNA binding motif protein 6 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1342651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532 9045456 Rbm6 RNA binding motif protein 6 gene DOID:630 genetic disease ISO RGD:1342651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045456 Rbm6 RNA binding motif protein 6 gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1342651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 9045456 Rbm6 RNA binding motif protein 6 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1342651 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9045481 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9045481 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:0060825 Christianson syndrome ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 9045481 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:12849 autistic disorder ISO RGD:1346347 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9045481 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:630 genetic disease ISO RGD:1346347 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045481 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 9045481 Adgrg4 adhesion G protein-coupled receptor G4 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1346347 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:0081148 common variable immunodeficiency 5 ISO RGD:1323750 D RGD:7240710 20190710 OMIM 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:0081148 common variable immunodeficiency 5 ISO RGD:1323750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 PMID:25741868|PMID:28492532 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1323750 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:1059 intellectual disability ISO RGD:1323750 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:12177 common variable immunodeficiency ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:1323750 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:1749 squamous cell carcinoma ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:2921 glomerulonephritis ISO RGD:1311999 D RGD:9068941 20200609 RGD protein:increased expression:kidney, glomerulus (rat) PMID:7538648|REF_RGD_ID:2316995 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22514692 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:5119 ovarian cyst ISO RGD:1323750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:630 genetic disease ISO RGD:1323750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9045509 Ms4a1 membrane spanning 4-domains A1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1323750 D RGD:9068941 20200609 RGD PMID:19911856|REF_RGD_ID:2316994 9045523 Psen2 presenilin 2 gene DOID:0080600 COVID-19 ISO RGD:733569 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9045523 Psen2 presenilin 2 gene DOID:0110040 Alzheimer's disease 4 ISO RGD:733569 D RGD:7240710 20180130 OMIM 9045523 Psen2 presenilin 2 gene DOID:0110040 Alzheimer's disease 4 ISO RGD:733569 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 PMID:10631141|PMID:10732806|PMID:10846187|PMID:11193137|PMID:11723295|PMID:12549925|PMID:12925374|PMID:14623725|PMID:14769392|PMID:15055444|PMID:15130954|PMID:15258222|PMID:15663477|PMID:15776278|PMID:16155344|PMID:16199547|PMID:16474849|PMID:16533963|PMID:16959576|PMID:17186461|PMID:17345043|PMID:17576681|PMID:17914065|PMID:18350357|PMID:18667258|PMID:18727676|PMID:18833506|PMID:18834536|PMID:19073399|PMID:19659892|PMID:19768372|PMID:20194882|PMID:20301414|PMID:20333730|PMID:20375137|PMID:20420489|PMID:20457965|PMID:20458010|PMID:20634584|PMID:21234330|PMID:21409510|PMID:21483645|PMID:21544564|PMID:21559247|PMID:21959359|PMID:22115042|PMID:22118943|PMID:22221884|PMID:22249458|PMID:22312439|PMID:22412221|PMID:22475797|PMID:22503161|PMID:22505025|PMID:22753229|PMID:22805202|PMID:22834455|PMID:23365231|PMID:23383383|PMID:23558482|PMID:23861362|PMID:23990795|PMID:24093083|PMID:24559647|PMID:24594196|PMID:24669286|PMID:24704512|PMID:24754482|PMID:24844686|PMID:24880964|PMID:24928124|PMID:25104557|PMID:25323700|PMID:25604855|PMID:25741868|PMID:25937274|PMID:26159191|PMID:26166204|PMID:26220970|PMID:26242991|PMID:26410308|PMID:26467025|PMID:26507310|PMID:26522186|PMID:26836416|PMID:26899768|PMID:27293189|PMID:27883225|PMID:28008242|PMID:28166811|PMID:28191889|PMID:28243073|PMID:28350801|PMID:28492532|PMID:28985224|PMID:29692703|PMID:30021643|PMID:30045758|PMID:30279455|PMID:30412492|PMID:30598257|PMID:30636737|PMID:30822634|PMID:30822648|PMID:30954774|PMID:31020001|PMID:31914229|PMID:32032730|PMID:32087291|PMID:32317127|PMID:32345996|PMID:32917274|PMID:33061333|PMID:34102969|PMID:35328387|PMID:7638622|PMID:7651536|PMID:8661049|PMID:8939861|PMID:8986743|PMID:9050898|PMID:9384602|PMID:9450781|PMID:9536098|PMID:9813158 9045523 Psen2 presenilin 2 gene DOID:0110427 dilated cardiomyopathy 1V ISO RGD:733569 D RGD:7240710 20180130 OMIM 9045523 Psen2 presenilin 2 gene DOID:0110427 dilated cardiomyopathy 1V ISO RGD:733569 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1V PMID:14623725|PMID:14769392|PMID:15130954|PMID:15663477|PMID:16474849|PMID:17186461|PMID:17345043|PMID:17914065|PMID:18350357|PMID:18667258|PMID:18727676|PMID:19659892|PMID:19768372|PMID:20194882|PMID:20375137|PMID:20420489|PMID:20458010|PMID:21409510|PMID:21483645|PMID:21544564|PMID:21959359|PMID:22118943|PMID:22221884|PMID:22312439|PMID:22412221|PMID:22475797|PMID:22503161|PMID:22753229|PMID:22834455|PMID:23383383|PMID:23558482|PMID:23861362|PMID:23990795|PMID:24559647|PMID:24669286|PMID:24754482|PMID:24844686|PMID:24880964|PMID:25104557|PMID:25604855|PMID:25741868|PMID:25937274|PMID:26159191|PMID:26242991|PMID:26410308|PMID:26467025|PMID:26507310|PMID:26899768|PMID:28008242|PMID:28191889|PMID:28243073|PMID:28492532|PMID:28985224|PMID:30045758|PMID:30279455|PMID:30598257|PMID:30636737|PMID:31914229|PMID:32032730|PMID:32087291|PMID:32345996|PMID:32917274|PMID:34102969|PMID:9384602 9045523 Psen2 presenilin 2 gene DOID:10652 Alzheimer's disease ISO RGD:733569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Early-Onset Familial Alzheimer Disease PMID:11723295|PMID:14623725|PMID:15130954|PMID:15663477|PMID:16474849|PMID:17186461|PMID:17345043|PMID:17914065|PMID:18667258|PMID:19768372|PMID:20194882|PMID:21409510|PMID:22221884|PMID:22312439|PMID:22475797|PMID:22503161|PMID:23383383|PMID:23558482|PMID:23861362|PMID:23990795|PMID:24880964|PMID:25104557|PMID:25604855|PMID:25741868|PMID:25937274|PMID:26159191|PMID:26242991|PMID:26410308|PMID:26467025|PMID:26507310|PMID:26836416|PMID:26899768|PMID:28492532|PMID:30045758|PMID:30279455|PMID:31914229|PMID:32032730|PMID:32087291|PMID:32345996|PMID:32917274|PMID:9384602 9045523 Psen2 presenilin 2 gene DOID:10652 Alzheimer's disease severity ISO RGD:733569 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.N141I (human) PMID:10976645|REF_RGD_ID:9743900 9045523 Psen2 presenilin 2 gene DOID:11088 asphyxia neonatorum ISO RGD:733569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963755 9045523 Psen2 presenilin 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:733569 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:20458010|PMID:21483645|PMID:22412221|PMID:24754482|PMID:28492532|PMID:28985224 9045523 Psen2 presenilin 2 gene DOID:1540 parathyroid carcinoma ISO RGD:733569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9045523 Psen2 presenilin 2 gene DOID:1612 breast cancer susceptibility ISO RGD:733569 D RGD:9068941 20200609 RGD protein:amino acid substitution:R62H, R71W PMID:16474849|REF_RGD_ID:2302525 9045523 Psen2 presenilin 2 gene DOID:3770 pulmonary fibrosis ISO RGD:733570 D RGD:9068941 20200609 RGD PMID:10518543|REF_RGD_ID:1302521 9045523 Psen2 presenilin 2 gene DOID:630 genetic disease ISO RGD:733569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9045523 Psen2 presenilin 2 gene DOID:8725 vascular dementia ISO RGD:733569 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:26522186|PMID:33268848 9045523 Psen2 presenilin 2 gene DOID:9003202 Pulmonary Hemorrhage ISO RGD:733570 D RGD:9068941 20200609 RGD PMID:10518543|REF_RGD_ID:1302521 9045523 Psen2 presenilin 2 gene DOID:9007282 Huntington's Disease-Like Syndrome ISO RGD:733569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Huntington disease-like syndrome PMID:28492532|PMID:30279455|PMID:30822634 9045523 Psen2 presenilin 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9045541 Znf239 zinc finger protein 239 gene DOID:630 genetic disease ISO RGD:1351594 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045561 Plp1 proteolipid protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9045561 Plp1 proteolipid protein 1 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:732304 D RGD:7240710 20180130 OMIM 9045561 Plp1 proteolipid protein 1 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:732304 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10319885|PMID:10319897|PMID:10417279|PMID:11093273|PMID:12601703|PMID:12910435|PMID:1384324|PMID:14452137|PMID:14745569|PMID:15450775|PMID:15712223|PMID:16199547|PMID:16287154|PMID:16380909|PMID:16844304|PMID:1720927|PMID:17438221|PMID:17576681|PMID:18160035|PMID:18414213|PMID:18470932|PMID:19328639|PMID:19825935|PMID:19955111|PMID:20022439|PMID:21679407|PMID:22016529|PMID:22101368|PMID:22343157|PMID:22695888|PMID:23344956|PMID:23347225|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:24890387|PMID:24936452|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26786043|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28366443|PMID:28492532|PMID:29451896|PMID:30314286|PMID:30337681|PMID:31448840|PMID:33504798|PMID:34782662|PMID:35012964|PMID:3827224|PMID:7488049|PMID:7522741|PMID:7531827|PMID:7539212|PMID:7539213|PMID:7679906|PMID:8012387|PMID:8320699|PMID:8659540|PMID:8723686|PMID:8786077|PMID:8956049|PMID:9056547|PMID:9106132|PMID:9247276|PMID:9427151|PMID:9489796|PMID:9536098|PMID:9633722|PMID:9634530|PMID:9934976 9045561 Plp1 proteolipid protein 1 gene DOID:1059 intellectual disability ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9045561 Plp1 proteolipid protein 1 gene DOID:11832 visual epilepsy ISO RGD:3354 D RGD:9068941 20200609 RGD PMID:2479544|PMID:434110|REF_RGD_ID:1358781|REF_RGD_ID:1358782 9045561 Plp1 proteolipid protein 1 gene DOID:12849 autistic disorder ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9045561 Plp1 proteolipid protein 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:732304 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10319897|PMID:15712223|PMID:25741868|PMID:26467025|PMID:28492532 9045561 Plp1 proteolipid protein 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:732304 D RGD:7240710 20180130 OMIM 9045561 Plp1 proteolipid protein 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:732304 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, atypical | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, connatal | ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease, mild PMID:10319897|PMID:10417279|PMID:11071483|PMID:11093273|PMID:12297985|PMID:12605435|PMID:12910435|PMID:1376966|PMID:1384324|PMID:15712223|PMID:1605230|PMID:16380909|PMID:16778599|PMID:1707231|PMID:1715570|PMID:1720927|PMID:18414213|PMID:18470932|PMID:18835559|PMID:19396823|PMID:20022439|PMID:20301361|PMID:21679407|PMID:22016529|PMID:22343157|PMID:22695888|PMID:23347225|PMID:24088041|PMID:24139698|PMID:24519770|PMID:2479017|PMID:2480601|PMID:25326635|PMID:25491635|PMID:25741868|PMID:26125040|PMID:26467025|PMID:26633545|PMID:26786043|PMID:26795593|PMID:27535533|PMID:2773936|PMID:28286750|PMID:28492532|PMID:29451896|PMID:31690835|PMID:3827224|PMID:7488049|PMID:7573159|PMID:7574457|PMID:7683951|PMID:8696336|PMID:8723686|PMID:8786077|PMID:9056547|PMID:9482656|PMID:9633722|PMID:9634530 9045561 Plp1 proteolipid protein 1 gene DOID:3213 demyelinating disease ISO RGD:3354 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.T75P(rat) PMID:2479544|REF_RGD_ID:1358781 9045561 Plp1 proteolipid protein 1 gene DOID:630 genetic disease ISO RGD:732304 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10401787|PMID:10417279|PMID:12910435|PMID:17576681|PMID:17962415|PMID:18414213|PMID:18470932|PMID:20022439|PMID:22343157|PMID:23347225|PMID:23771846|PMID:25491635|PMID:25741868|PMID:26467025|PMID:26786043|PMID:26795593|PMID:28492532|PMID:29451896|PMID:30337681|PMID:8786077|PMID:9536098 9045561 Plp1 proteolipid protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:732304 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21068375 9045561 Plp1 proteolipid protein 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:1551293 D RGD:9068941 20201211 RGD PMID:24941845|REF_RGD_ID:40902822 9045561 Plp1 proteolipid protein 1 gene DOID:9007428 Muscle Spasticity ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spasticity 9045561 Plp1 proteolipid protein 1 gene DOID:9007553 neurotoxicity treatment ISO RGD:3354 D RGD:9068941 20230323 RGD PMID:33166664|REF_RGD_ID:213230154 9045561 Plp1 proteolipid protein 1 gene DOID:9007752 Chronic Relapsing Experimental Autoimmune Encephalomyelitis ISO RGD:732304 D RGD:9068941 20200618 RGD human sequence peptide in a mouse model; associated with Herpesviridae infections PMID:12811845|REF_RGD_ID:30296670 9045561 Plp1 proteolipid protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:732304 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:620241 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:0090020 split hand-foot malformation ISO RGD:735736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:25741868 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:10283 prostate cancer ISO RGD:735736 D RGD:9068941 20200609 RGD associated with prostate cancer PMID:27067790|REF_RGD_ID:11531513 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:735737 D RGD:9068941 20200609 RGD PMID:16738313|REF_RGD_ID:11252001 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:2394 ovarian cancer ISO RGD:735736 D RGD:9068941 20200609 RGD protein:altered activity:ovary PMID:14520463|REF_RGD_ID:2298717 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735736 D RGD:9068941 20200609 RGD mRNA:increased expression:thyroid PMID:28677753|REF_RGD_ID:13792605 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:5759 sebaceous gland neoplasm ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16565724 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:630 genetic disease ISO RGD:735736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:8634 prostate carcinoma in situ ISO RGD:735736 D RGD:9068941 20200609 RGD PMID:27067790|REF_RGD_ID:11531513 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735736 D RGD:9068941 20200609 RGD associated with prostate cancer PMID:27067790|REF_RGD_ID:11531513 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21188121 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:9006205 Animal Disease Models ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:9006294 Congenital Limb Deformities ISO RGD:735736 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Abnormal radial ray morphology PMID:25741868 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:9008763 Femoral Fractures ISO RGD:620241 D RGD:9068941 20200609 RGD mRNA:decreased expression:bone PMID:16459154|REF_RGD_ID:2298720 9045627 Lef1 lymphoid enhancer binding factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 9045669 Lyzl4 lysozyme like 4 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1348547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 9045669 Lyzl4 lysozyme like 4 gene DOID:630 genetic disease ISO RGD:1348547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045682 Agbl4 AGBL carboxypeptidase 4 gene DOID:0060224 atrial fibrillation ISO RGD:1606202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 9045682 Agbl4 AGBL carboxypeptidase 4 gene DOID:10283 prostate cancer ISO RGD:1606202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9045682 Agbl4 AGBL carboxypeptidase 4 gene DOID:303 substance-related disorder ISO RGD:1606202 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9045682 Agbl4 AGBL carboxypeptidase 4 gene DOID:630 genetic disease ISO RGD:1606202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045682 Agbl4 AGBL carboxypeptidase 4 gene DOID:9008582 Developmental Disease ISO RGD:1606202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder 9045722 Nmrk1 nicotinamide riboside kinase 1 gene DOID:630 genetic disease ISO RGD:1343469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0090039 torsion dystonia 6 ISO RGD:1606456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Torsion dystonia 6 PMID:28492532 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0110389 retinitis pigmentosa 73 ISO RGD:1606456 D RGD:7240710 20180130 OMIM 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0110389 retinitis pigmentosa 73 ISO RGD:1606456 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 73 PMID:16199547|PMID:16960811|PMID:17033958|PMID:17576681|PMID:19479962|PMID:19823584|PMID:20583299|PMID:24767253|PMID:25741868|PMID:25859010|PMID:27608171|PMID:28041643|PMID:28492532|PMID:28981474|PMID:29140481|PMID:31228227|PMID:31456290|PMID:32581362|PMID:32770643|PMID:33576794|PMID:33578874|PMID:33851411|PMID:34326763|PMID:34580245|PMID:34795310|PMID:34906470|PMID:9536098 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 ISO RGD:1606456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 PMID:28492532 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1606456 D RGD:7240710 20191030 OMIM 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1606456 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC (Sanfilippo C) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:16199547|PMID:16960811|PMID:17033958|PMID:17397050|PMID:17576681|PMID:18024218|PMID:18518886|PMID:19479962|PMID:19763152|PMID:19823584|PMID:20307669|PMID:20583299|PMID:20825431|PMID:21384162|PMID:21910976|PMID:22406018|PMID:23301227|PMID:24767253|PMID:25326635|PMID:25491247|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25859010|PMID:26287674|PMID:26350204|PMID:27243974|PMID:27608171|PMID:27733599|PMID:27827379|PMID:28041643|PMID:28101780|PMID:28397838|PMID:28468868|PMID:28492532|PMID:28981474|PMID:29140481|PMID:29870682|PMID:30809705|PMID:31228227|PMID:31456290|PMID:31536183|PMID:32581362|PMID:32770643|PMID:33576794|PMID:33578874|PMID:33673364|PMID:33851411|PMID:34326763|PMID:34374989|PMID:34580245|PMID:34795310|PMID:34906470|PMID:35848209|PMID:9536098 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111393 mucopolysaccharidosis type IIIC ISO RGD:1606456 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC (Sanfilippo C) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C PMID:16199547|PMID:16960811|PMID:17033958|PMID:17397050|PMID:17576681|PMID:18024218|PMID:18518886|PMID:19479962|PMID:19763152|PMID:19823584|PMID:20307669|PMID:20583299|PMID:20825431|PMID:21384162|PMID:21910976|PMID:22406018|PMID:23301227|PMID:24767253|PMID:25326635|PMID:25491247|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25859010|PMID:26287674|PMID:26350204|PMID:27243974|PMID:27608171|PMID:27733599|PMID:27827379|PMID:28041643|PMID:28101780|PMID:28397838|PMID:28468868|PMID:28492532|PMID:28981474|PMID:29140481|PMID:29870682|PMID:30809705|PMID:31228227|PMID:31456290|PMID:31536183|PMID:31964843|PMID:32347150|PMID:32581362|PMID:32770643|PMID:33576794|PMID:33578874|PMID:33673364|PMID:33851411|PMID:33879512|PMID:34326763|PMID:34374989|PMID:34580245|PMID:34795310|PMID:34906470|PMID:35848209|PMID:9536098 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:0111959 immunodeficiency 15B ISO RGD:1606456 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B PMID:28492532 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:10584 retinitis pigmentosa ISO RGD:1606456 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17033958|PMID:19479962|PMID:19823584|PMID:20583299|PMID:25741868|PMID:25859010|PMID:27608171|PMID:28041643|PMID:28492532|PMID:28981474|PMID:31228227|PMID:31456290|PMID:32581362|PMID:32770643|PMID:33576794|PMID:33578874|PMID:33851411|PMID:34326763|PMID:34580245|PMID:34795310|PMID:34906470 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:1059 intellectual disability ISO RGD:1606456 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21910976|PMID:25741868|PMID:28492532|PMID:29870682 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:12798 mucopolysaccharidosis ISO RGD:1606456 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis PMID:17033958|PMID:18024218|PMID:19479962|PMID:19823584|PMID:20583299|PMID:20825431|PMID:25741868|PMID:27827379|PMID:28492532|PMID:31228227|PMID:31536183 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:12801 mucopolysaccharidosis III ISO RGD:1606456 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:16199547|PMID:16960811|PMID:17033958|PMID:17397050|PMID:18024218|PMID:18518886|PMID:19479962|PMID:19823584|PMID:20583299|PMID:20825431|PMID:21384162|PMID:23301227|PMID:24767253|PMID:25491247|PMID:25525159|PMID:25741868|PMID:26287674|PMID:26350204|PMID:27243974|PMID:28041643|PMID:28101780|PMID:28468868|PMID:28492532|PMID:29140481|PMID:31228227|PMID:31536183|PMID:32770643|PMID:35848209 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:1826 epilepsy ISO RGD:1606456 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:630 genetic disease ISO RGD:1606456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:16960811|PMID:17033958|PMID:19479962|PMID:21910976|PMID:25741868|PMID:28492532|PMID:29140481|PMID:29870682|PMID:31228227 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:8501 fundus dystrophy ISO RGD:1606456 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:17033958|PMID:17397050|PMID:17576681|PMID:18024218|PMID:19479962|PMID:19823584|PMID:20583299|PMID:20825431|PMID:23301227|PMID:24767253|PMID:25491247|PMID:25525159|PMID:25741868|PMID:25859010|PMID:26350204|PMID:27243974|PMID:27608171|PMID:28041643|PMID:28101780|PMID:28492532|PMID:28981474|PMID:31228227|PMID:31456290|PMID:32581362|PMID:32770643|PMID:33576794|PMID:33578874|PMID:33851411|PMID:34326763|PMID:34580245|PMID:34795310|PMID:34906470|PMID:35848209|PMID:9536098 9045764 Hgsnat heparan-alpha-glucosaminide N-acetyltransferase gene DOID:9008991 IMMUNODEFICIENCY 15 ISO RGD:1606456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 15 PMID:28492532 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0050567 orofacial cleft ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0050591 tooth agenesis ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tooth agenesis 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0050591 tooth agenesis susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP: :rs17563(human) PMID:26166641|REF_RGD_ID:13442494 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0050651 atrioventricular septal defect ISO RGD:10244 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0050834 CHARGE syndrome ISO RGD:10244 D RGD:9068941 20200609 RGD mRNA:altered localization:brain: PMID:22658483|REF_RGD_ID:9068442 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0060673 Peters anomaly ISO RGD:730832 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:25741868 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0060887 ossification of the posterior longitudinal ligament of spine susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:6007C>T(rs17563)(human) PMID:21034624|REF_RGD_ID:9068398 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0080015 physical disorder ISO RGD:10244 D RGD:9068941 20220825 MouseDO 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0080205 CAKUT susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2071047,rs17563(human) PMID:24131739|REF_RGD_ID:13442498 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0080207 CAKUT2 ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) PMID:21927809|REF_RGD_ID:13446406 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0080404 orofacial cleft 11 ISO RGD:730832 D RGD:7240710 20180130 OMIM 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0080404 orofacial cleft 11 ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BMP4-related condition | ClinVar Annotator: match by term: Orofacial cleft 11 PMID:12404109|PMID:18252212|PMID:18305125|PMID:18771417|PMID:19249007|PMID:19557432|PMID:19685083|PMID:21340693|PMID:22052794|PMID:22978696|PMID:23227324|PMID:23841782|PMID:24429398|PMID:25741868|PMID:28492532|PMID:30568244|PMID:31053785 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0080636 syndromic microphthalmia ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant PMID:25741868|PMID:28492532 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0090043 dystonia 5 ISO RGD:730832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia 5 PMID:17111153|PMID:19332422|PMID:19491146|PMID:25557619|PMID:28492532|PMID:9667588 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:10244 D RGD:9068941 20220825 MouseDO OMIM:602482 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0110779 hereditary spastic paraplegia 28 ISO RGD:730832 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 PMID:28492532 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0111535 progressive osseous heteroplasia ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:730832 D RGD:7240710 20180130 OMIM 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:0111805 syndromic microphthalmia 6 ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:12404109|PMID:17003840|PMID:18252212|PMID:18305125|PMID:18771417|PMID:19249007|PMID:19557432|PMID:19685083|PMID:20949628|PMID:21340693|PMID:22052794|PMID:22978696|PMID:23227324|PMID:23841782|PMID:24429398|PMID:25741868|PMID:28492532|PMID:31063268 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:10126 keratoconus ISO RGD:730832 D RGD:9068941 20200609 RGD mRNA:increased expression:keratocyte: PMID:19956410|REF_RGD_ID:8699496 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:10286 prostate carcinoma disease_progression ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:16519147|REF_RGD_ID:1643592 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:10652 Alzheimer's disease ISO RGD:10244 D RGD:9068941 20200609 RGD PMID:19463786|REF_RGD_ID:10414082 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:11476 osteoporosis ISO RGD:730832 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36453845 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:11963 esophagitis ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:17570215|REF_RGD_ID:8699511 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:12185 otosclerosis ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.N150K(human) PMID:24492129|REF_RGD_ID:8699491 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:12185 otosclerosis susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A152V,rs17563(human) PMID:18021008|REF_RGD_ID:8698669 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:1222 cartilage disease treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:16447218|REF_RGD_ID:8699518 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:13515 tuberous sclerosis ISO RGD:730832 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:cerebral cortex: PMID:22752548|REF_RGD_ID:9068443 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:13938 amenorrhea ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:13976 peptic esophagitis ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:17570215|REF_RGD_ID:8699511 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:1612 breast cancer ISO RGD:730832 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:17004110|REF_RGD_ID:1643590 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:18 urinary system disease ISO RGD:10244 D RGD:9068941 20220825 MouseDO 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:182 calcinosis ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:dermis: PMID:18422975|REF_RGD_ID:9068449 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:1826 epilepsy ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus PMID:17286956|REF_RGD_ID:1643597 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:1882 atrial heart septal defect susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP: :rs762642(human) PMID:25022354|REF_RGD_ID:13442496 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:1909 melanoma susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP:cds:6007C>T (rs17563)(human) PMID:19557432|REF_RGD_ID:9068447 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:2999 granulosa cell tumor ISO RGD:10244 D RGD:9068941 20200609 RGD mRNA:increased expression:ovary PMID:16488995|REF_RGD_ID:1643593 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart: PMID:18280291|REF_RGD_ID:9068407 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:4448 macular degeneration ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:bruch's membrane,pigmented layer of retina: PMID:19158083|REF_RGD_ID:8699495 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:4450 renal cell carcinoma severity ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:17644140|REF_RGD_ID:1643589 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:10244 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pituitary gland PMID:12552124|REF_RGD_ID:629544 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:pituitary gland PMID:12552124|REF_RGD_ID:629544 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16809920 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:5394 prolactinoma ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:pituitary gland PMID:12552124|REF_RGD_ID:629544 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:540 strabismus ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:14710472|REF_RGD_ID:8699500 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:630 genetic disease ISO RGD:730832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19249007|PMID:21340693|PMID:23841782|PMID:25741868|PMID:28492532 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:668 myositis ossificans ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:8678932|REF_RGD_ID:734648 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:7004 ACTH-secreting pituitary adenoma ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16195406 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:7148 rheumatoid arthritis ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:8398 osteoarthritis ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:23770801|REF_RGD_ID:9068404 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:18803859|REF_RGD_ID:9068437 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9000598 Cranial Nerve Injuries ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:increased expression:superior cervical ganglion PMID:16420416|REF_RGD_ID:2289006 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9000955 Acute Otitis Media ISO RGD:10244 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9001044 Choroidal Neovascularization ISO RGD:10244 D RGD:9068941 20200609 RGD PMID:21411747|PMID:22392094|REF_RGD_ID:8699493|REF_RGD_ID:8699501 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9001471 Anorectal Malformations ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:decreased expression:hindgut PMID:17161201|REF_RGD_ID:1599527 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9001471 Anorectal Malformations ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:decreased expression:rectum: PMID:22027561|REF_RGD_ID:9068408 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9001471 Anorectal Malformations severity ISO RGD:730832 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:rectum PMID:20146882|REF_RGD_ID:12798571 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9001517 Kapur Toriello Syndrome ISO RGD:730832 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Kapur-Toriello syndrome PMID:25741868 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9001547 Tibial Fractures ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:tibia PMID:16651391|REF_RGD_ID:2289037 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:16447265|REF_RGD_ID:1643229 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9002209 Skull Fractures treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:16332232|REF_RGD_ID:8699514 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:22710965|REF_RGD_ID:9068402 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9003036 Oral Lichen Planus ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:mouth mucosa: PMID:16393252|REF_RGD_ID:9068457 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:23236544|REF_RGD_ID:8699519 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9003936 Cardiomegaly ISO RGD:10244 D RGD:9068941 20200609 RGD protein:increased expression:heart: PMID:23747723|REF_RGD_ID:8847123 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9004265 Endometrioid Carcinomas ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:12782598|REF_RGD_ID:2296026 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:19404941|REF_RGD_ID:9068434 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9004538 Hearing Loss ISO RGD:10244 D RGD:9068941 20200609 RGD PMID:17275231|REF_RGD_ID:8698665 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9004999 APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aplasia/hypoplasia involving bones of the lower limbs 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9005988 Multicystic Dysplastic Kidney susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP: :rs17563(human) PMID:24131739|REF_RGD_ID:13442498 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9006294 Congenital Limb Deformities ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:decreased expression:mesoderm: PMID:17661743|REF_RGD_ID:9068432 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9007096 Stroke ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte PMID:16730912|REF_RGD_ID:2289004 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9007402 Gliosis ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:17696121|REF_RGD_ID:1643225 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9007480 Hyperoxia ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:23236544|REF_RGD_ID:8699519 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9008 psoriatic arthritis ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9008193 Cartilage Fractures treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:19035511|REF_RGD_ID:9068397 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9008426 Focal Cortical Dysplasia of Taylor ISO RGD:730832 D RGD:9068941 20200609 RGD protein:decreased expression, altered localization:cerebral cortex: PMID:22752548|REF_RGD_ID:9068443 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9008443 Colorectal Neoplasms ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19011631 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9008498 Tracheoesophageal Fistula ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:16818050|REF_RGD_ID:2289003 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9008550 Vitamin A Deficiency ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16120438 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9008763 Femoral Fractures ISO RGD:2213 D RGD:9068941 20200609 RGD mRNA:increased expression:upper leg PMID:10701160|REF_RGD_ID:2289025 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9008763 Femoral Fractures treatment ISO RGD:2213 D RGD:9068941 20200609 RGD PMID:15352071|REF_RGD_ID:9068399 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9008763 Femoral Fractures treatment ISO RGD:730832 D RGD:9068941 20200609 RGD PMID:12810166|REF_RGD_ID:8699510 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9008939 Breast Neoplasms ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23180569 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:730832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18280291 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9206 Barrett's esophagus ISO RGD:2213 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:17570215|REF_RGD_ID:8699511 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9206 Barrett's esophagus ISO RGD:730832 D RGD:9068941 20200609 RGD protein:increased expression:esophagus: PMID:17570215|REF_RGD_ID:8699511 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9282 ocular hypertension ISO RGD:10244 D RGD:9068941 20200609 RGD PMID:11722794|REF_RGD_ID:8698668 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9296 cleft lip ISO RGD:730832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant PMID:12404109|PMID:18771417|PMID:19249007|PMID:19557432|PMID:23227324|PMID:25741868|PMID:28492532 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9296 cleft lip susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:SNP: : rs17563 (p.V152A)(human) PMID:23227324|REF_RGD_ID:13442497 9045788 Bmp4 bone morphogenetic protein 4 gene DOID:9296 cleft lip susceptibility ISO RGD:730832 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.V152A(human) PMID:18771417|REF_RGD_ID:13442495 9045802 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:7240710 20240320 OMIM 9045802 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28202063|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31937788|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32375120|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34771502|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114939|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9097963|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724 9045802 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9764818|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome | ClinVar Annotator: match by term: Sipple syndrome PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10521317|PMID:10522989|PMID:10528857|PMID:10549772|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11149622|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11746981|PMID:11788682|PMID:11849247|PMID:11900218|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12673960|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15523405|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15592804|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16199547|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16384843|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17188172|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18284634|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19029228|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19366855|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20123584|PMID:20142552|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20454948|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20664475|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21186952|PMID:21253810 9045802 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome | ClinVar Annotator: match by term: Sipple syndrome PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23140918|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25151137|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27986441|PMID:27994876|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28747092|PMID:28799054|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30012587|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30653460|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31471357|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:31937788|PMID:31983649|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705 9045802 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome | ClinVar Annotator: match by term: Sipple syndrome PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33098376|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33606809|PMID:33615670|PMID:33754314|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34267336|PMID:34358225|PMID:34439168|PMID:34629742|PMID:34637071|PMID:34646395|PMID:34771502|PMID:34777782|PMID:34881033|PMID:34905813|PMID:34925234|PMID:35189708|PMID:35264596|PMID:35535697|PMID:36251279|PMID:36407031|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7716719|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8654369|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8894691|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9097963|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9764818|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome | ClinVar Annotator: match by term: Sipple syndrome PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10521317|PMID:10522989|PMID:10528857|PMID:10549772|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11149622|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11746981|PMID:11788682|PMID:11849247|PMID:11900218|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12640453|PMID:12673960|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15523405|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15592804|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16199547|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16384843|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17188172|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18284634|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:19015274|PMID:19029228|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19366855|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20123584|PMID:20142552|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20454948|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20664475|PMID:20672905|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21186952|PMID:21253810|PMID:21254918 9045802 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome | ClinVar Annotator: match by term: Sipple syndrome PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21552134|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22747440|PMID:22811860|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23140918|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23330657|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:23868299|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24577265|PMID:24616773|PMID:24617864|PMID:24618965|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24794695|PMID:24805091|PMID:24845513|PMID:24897126|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25151137|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25695224|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27854218|PMID:27884173|PMID:27986441|PMID:27994876|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28152038|PMID:28186607|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28569245|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28747092|PMID:28799054|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29093530|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29378479|PMID:29396759|PMID:29397600|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30012587|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30653460|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30693022|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283 9045802 Ret ret proto-oncogene gene DOID:0050430 multiple endocrine neoplasia type 2A ISO RGD:735296 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome | ClinVar Annotator: match by term: Sipple syndrome PMID:31159747|PMID:31263477|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31471357|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:31937788|PMID:31983649|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32411094|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33098376|PMID:33167350|PMID:33219105|PMID:33340421|PMID:33397040|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33563768|PMID:33606809|PMID:33615670|PMID:33754314|PMID:33763905|PMID:33777662|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34267336|PMID:34308104|PMID:34309460|PMID:34358225|PMID:34439168|PMID:34629742|PMID:34637071|PMID:34646395|PMID:34771502|PMID:34777782|PMID:34881033|PMID:34885201|PMID:34905813|PMID:34925234|PMID:35189708|PMID:35264596|PMID:35304457|PMID:35535697|PMID:35627249|PMID:36251279|PMID:36315513|PMID:36407031|PMID:36451132|PMID:36900197|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7716719|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8654369|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8894691|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9097963|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9764818|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:7240710 20240320 OMIM 9045802 Ret ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10323403|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10549772|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10982477|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11386462|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11562352|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:12000816|PMID:12019403|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12409662|PMID:12410354|PMID:12490841|PMID:12566528|PMID:12686527|PMID:12694233|PMID:12788868|PMID:12920219|PMID:14517954|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16325365|PMID:16343097|PMID:16384843|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16813623|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17097365|PMID:17108110|PMID:17178962|PMID:17209045|PMID:17316110|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248648|PMID:18252215|PMID:18299477|PMID:18541894|PMID:18805915|PMID:19041016|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19826964|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20041006|PMID:20065189|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20719260|PMID:20739875|PMID:20833330|PMID:20847059|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22403753|PMID:22584710|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22747440|PMID:22811860|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:24033266|PMID:24064755|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24449023|PMID:24560924|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24794695|PMID:24805091|PMID:24845513|PMID:25157968|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25887804|PMID:25903693|PMID:26033033|PMID:26046350|PMID:26084817|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26758973|PMID:26845104|PMID:26920351|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27539324|PMID:27673361|PMID:27807060|PMID:27809725|PMID:27854218|PMID:27884173|PMID:27994876|PMID:28125075|PMID:28137737|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162 9045802 Ret ret proto-oncogene gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:735296 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary PMID:28946813|PMID:28951487|PMID:29026273|PMID:29097883|PMID:29192238|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30012587|PMID:30172768|PMID:30217742|PMID:30392857|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31447099|PMID:31471357|PMID:31510104|PMID:31937788|PMID:32164334|PMID:32179705|PMID:32293499|PMID:32375120|PMID:32411094|PMID:32732076|PMID:32923848|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33615670|PMID:33754314|PMID:33763905|PMID:33827484|PMID:34629742|PMID:34637071|PMID:34881033|PMID:34885201|PMID:35189708|PMID:35304457|PMID:35535697|PMID:36900197|PMID:3697657|PMID:7536460|PMID:7595170|PMID:7633441|PMID:7647787|PMID:7716719|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:7240710 20240320 OMIM 9045802 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10369718|PMID:10445857|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11389085|PMID:11436122|PMID:11524247|PMID:11589684|PMID:11732489|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12150334|PMID:12214285|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12686527|PMID:12746565|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15184865|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15592804|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16314641|PMID:16424056|PMID:16441254|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16732321|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17483988|PMID:17540634|PMID:17573899|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18209889|PMID:18252215|PMID:18284634|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19469690|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20123584|PMID:20368568|PMID:20454948|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24561444|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24784869|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25637381|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26332594|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26732158|PMID:26920351|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27539324|PMID:27600092|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27884173|PMID:28099363|PMID:28166811|PMID:28469506|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29263839|PMID:29420094|PMID:29549836|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30392857|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365 9045802 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:8099202|PMID:8103403|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111993|PMID:9230192|PMID:9242375|PMID:9467562|PMID:9506724|PMID:9620546|PMID:9681850|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to PMID:10076558|PMID:10369718|PMID:10445857|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10980580|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11389085|PMID:11436122|PMID:11524247|PMID:11589684|PMID:11732489|PMID:11788682|PMID:11900218|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12410354|PMID:12466368|PMID:12566528|PMID:12604374|PMID:12686527|PMID:12746565|PMID:12872262|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15184865|PMID:15277225|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15592804|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16314641|PMID:16343097|PMID:16424056|PMID:16441254|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16732321|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17188172|PMID:17270543|PMID:17316110|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17573899|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18209889|PMID:18252215|PMID:18284634|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20103606|PMID:20123584|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20454948|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20981092|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23341727|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24560924|PMID:24561444|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24784869|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26046350|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26883533|PMID:26920351|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27379493|PMID:27539324 9045802 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to PMID:27600092|PMID:27673361|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27884173|PMID:28099363|PMID:28125075|PMID:28469506|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29263839|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29590403|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30217742|PMID:30306255|PMID:30392857|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33615670|PMID:33827484|PMID:34439168|PMID:34629742|PMID:34637071|PMID:34777782|PMID:34881033|PMID:34905813|PMID:34925234|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111993|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9452077|PMID:9467562|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:10076558|PMID:10369718|PMID:10445857|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10980580|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11389085|PMID:11436122|PMID:11589684|PMID:11732489|PMID:11788682|PMID:11900218|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12410354|PMID:12466368|PMID:12566528|PMID:12686527|PMID:12746565|PMID:12872262|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15184865|PMID:15277225|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15592804|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16314641|PMID:16343097|PMID:16424056|PMID:16441254|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16732321|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17188172|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17573899|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18209889|PMID:18252215|PMID:18284634|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20103606|PMID:20123584|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20454948|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20672905|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20981092|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21552134|PMID:21655256|PMID:21678021|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23330657|PMID:23341727|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23849459|PMID:23861463|PMID:23868299|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24560924|PMID:24561444|PMID:24617864|PMID:24618965|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24784869|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25695224|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26046350|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26678667 9045802 Ret ret proto-oncogene gene DOID:0050771 pheochromocytoma ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27379493|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27884173|PMID:28099363|PMID:28125075|PMID:28152038|PMID:28186607|PMID:28469506|PMID:28492532|PMID:28569245|PMID:28873162|PMID:28946813|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29263839|PMID:29378479|PMID:29397600|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30217742|PMID:30306255|PMID:30392857|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31263477|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33167350|PMID:33219105|PMID:33340421|PMID:33397040|PMID:33450337|PMID:33563768|PMID:33615670|PMID:33763905|PMID:33777662|PMID:33827484|PMID:34439168|PMID:34629742|PMID:34637071|PMID:34777782|PMID:34881033|PMID:34885201|PMID:34905813|PMID:34925234|PMID:35264596|PMID:35304457|PMID:35627249|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8909322|PMID:8918855|PMID:9067749|PMID:9090527|PMID:9111993|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9452077|PMID:9467562|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9839497|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:0050902 medulloblastoma ISO RGD:735296 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:11436122|PMID:24033266|PMID:25741868|PMID:28492532|PMID:36900197 9045802 Ret ret proto-oncogene gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation PMID:10076558|PMID:10090908|PMID:10618407|PMID:10679286|PMID:10826520|PMID:10876191|PMID:11114642|PMID:11238493|PMID:11732489|PMID:11788682|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12410354|PMID:14557476|PMID:14633923|PMID:15184865|PMID:15386323|PMID:15741265|PMID:15858153|PMID:16325365|PMID:16343097|PMID:16532227|PMID:16849421|PMID:16865647|PMID:16868135|PMID:17032739|PMID:17047083|PMID:17108762|PMID:17316110|PMID:17384210|PMID:17466010|PMID:17590169|PMID:17605401|PMID:17664273|PMID:17704047|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18299477|PMID:19445625|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20142552|PMID:20369307|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20719260|PMID:20979234|PMID:21134561|PMID:21309721|PMID:21454698|PMID:21475823|PMID:21479187|PMID:21711375|PMID:21712996|PMID:21810974|PMID:22174939|PMID:22584709|PMID:22703879|PMID:22747440|PMID:22811860|PMID:23084198|PMID:23259706|PMID:23341727|PMID:23468374|PMID:23514012|PMID:24033266|PMID:24064755|PMID:24336963|PMID:24361808|PMID:24429398|PMID:24560924|PMID:24617864|PMID:24728327|PMID:24794695|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26467025|PMID:26559152|PMID:26580448|PMID:26758973|PMID:26845104|PMID:27099842|PMID:27207748|PMID:27854218|PMID:28125075|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29590403|PMID:29625052|PMID:29656518|PMID:29684080|PMID:3078962|PMID:31510104|PMID:32923848|PMID:33167350|PMID:33450337|PMID:33615670|PMID:33827484|PMID:34637071|PMID:35264596|PMID:7824936|PMID:7835899|PMID:7907913|PMID:7915165|PMID:8099202|PMID:8626834|PMID:8797874|PMID:8896569|PMID:9067749|PMID:9174404|PMID:9230192|PMID:9452077|PMID:9498388|PMID:9606292|PMID:9839497|PMID:9868860|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10679286|PMID:10790203|PMID:11114642|PMID:11230481|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11900218|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12920219|PMID:14561794|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16736292|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17178962|PMID:17188172|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18541894|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20368568|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20672905|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20979234|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21655256|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584710|PMID:22676344|PMID:22703879|PMID:22900816|PMID:22992277|PMID:23056499|PMID:23210566|PMID:23295303|PMID:23330657|PMID:23416954|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23861463|PMID:23868299|PMID:24033266|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24449023|PMID:24561444|PMID:24617864|PMID:24716929|PMID:24784869|PMID:24805091|PMID:24845513|PMID:25027091|PMID:25157968|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26356818|PMID:26467025|PMID:26556299|PMID:2660074|PMID:26678667|PMID:26732158|PMID:26876062|PMID:27153395|PMID:27539324|PMID:27698838|PMID:27807060|PMID:27994876|PMID:28099363|PMID:28152038|PMID:28186607|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28569245|PMID:28647780|PMID:28873162|PMID:28951487|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29378479|PMID:29396759|PMID:29397600|PMID:29656518|PMID:29790872|PMID:30172768|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31263477|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32293499|PMID:32408902|PMID:33167350|PMID:33219105|PMID:33340421|PMID:33397040|PMID:33450337|PMID:33827484|PMID:34092334|PMID:34439168|PMID:34629742|PMID:34777782|PMID:34881033|PMID:34905813|PMID:35627249|PMID:7536460|PMID:7608256|PMID:7633441|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322 9045802 Ret ret proto-oncogene gene DOID:0080137 multiple endocrine neoplasia type 4 ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:0080204 renal hypoplasia ISO RGD:735296 D RGD:9068941 20221110 RGD DNA:SNP:exon 7:rs1800860 (human) PMID:18820179|REF_RGD_ID:155641253 9045802 Ret ret proto-oncogene gene DOID:0080205 CAKUT ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract PMID:25741868|PMID:27657687|PMID:28492532|PMID:29641532 9045802 Ret ret proto-oncogene gene DOID:0080855 Parkinsonism ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:12210101|REF_RGD_ID:6218972 9045802 Ret ret proto-oncogene gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:735296 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:22648184|PMID:25741868|PMID:28492532|PMID:28946813|PMID:31159747|PMID:32091409|PMID:33981013 9045802 Ret ret proto-oncogene gene DOID:10016 multiple endocrine neoplasia type 2B ISO RGD:735296 D RGD:7240710 20240320 OMIM 9045802 Ret ret proto-oncogene gene DOID:10016 multiple endocrine neoplasia type 2B ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 3 PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:11061555|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11436122|PMID:11562352|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11900218|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11950855|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12116277|PMID:12193298|PMID:12214285|PMID:12410354|PMID:12466368|PMID:12566528|PMID:12640453|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12920219|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15592804|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16091499|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17188172|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18284634|PMID:18299477|PMID:18541894|PMID:18805915|PMID:18976013|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20103606|PMID:20123584|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20454948|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20672905|PMID:20719260|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23295303|PMID:23330657|PMID:23341727|PMID:23416954|PMID:23441071|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23849459|PMID:23861463|PMID:23868299|PMID:24033266|PMID:24055113|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24560924|PMID:24561444|PMID:24617864|PMID:24651702 9045802 Ret ret proto-oncogene gene DOID:10016 multiple endocrine neoplasia type 2B ISO RGD:735296 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 3 PMID:24716929|PMID:24728327|PMID:24745698|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25143909|PMID:25157968|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27807060|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28152038|PMID:28186607|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28569245|PMID:28578594|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29378479|PMID:29396759|PMID:29397600|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29625052|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31263477|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31666091|PMID:32164334|PMID:32179705|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32923848|PMID:32989896|PMID:33167350|PMID:33219105|PMID:33340421|PMID:33397040|PMID:33450337|PMID:33563768|PMID:33615670|PMID:33763905|PMID:33827484|PMID:34092334|PMID:34439168|PMID:34629742|PMID:34637071|PMID:34777782|PMID:34881033|PMID:34885201|PMID:34905813|PMID:35264596|PMID:35304457|PMID:35627249|PMID:36315513|PMID:36451132|PMID:36900197|PMID:7536460|PMID:7581377|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 | ClinVar Annotator: match by term: Wermer syndrome PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10679286|PMID:10790203|PMID:11114642|PMID:11230481|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11900218|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12920219|PMID:14561794|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16705552|PMID:16707008|PMID:16715139|PMID:16736292|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17178962|PMID:17188172|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18541894|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20368568|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20672905|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20979234|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21655256|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584710|PMID:22676344|PMID:22703879|PMID:22900816|PMID:22992277|PMID:23056499|PMID:23210566|PMID:23295303|PMID:23330657|PMID:23416954|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23861463|PMID:23868299|PMID:24033266|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24449023|PMID:24561444|PMID:24617864|PMID:24716929|PMID:24784869|PMID:24805091|PMID:24845513|PMID:25027091|PMID:25157968|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26356818|PMID:26467025|PMID:26556299|PMID:2660074|PMID:26678667|PMID:26732158|PMID:26876062|PMID:27153395|PMID:27539324|PMID:27698838|PMID:27807060|PMID:27994876|PMID:28099363|PMID:28152038|PMID:28186607|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28569245|PMID:28647780|PMID:28873162|PMID:28951487|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29378479|PMID:29396759|PMID:29397600|PMID:29656518|PMID:29790872|PMID:30172768|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31263477|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32293499|PMID:32408902|PMID:33167350|PMID:33219105|PMID:33340421|PMID:33397040|PMID:33450337|PMID:33827484|PMID:34092334|PMID:34439168|PMID:34629742|PMID:34777782|PMID:34881033|PMID:34905813|PMID:35627249|PMID:7536460|PMID:7608256|PMID:7633441|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322 9045802 Ret ret proto-oncogene gene DOID:10017 multiple endocrine neoplasia type 1 ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 | ClinVar Annotator: match by term: Wermer syndrome PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:7240710 20240320 OMIM 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24569963|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25425582|PMID:25440022|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32283892|PMID:33167350|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8894691|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32179705|PMID:32283892|PMID:33167350|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33981013|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33981013|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11732489|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17605401|PMID:17610518|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28166811|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33981013|PMID:34092334|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23461807|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25569433|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27854218|PMID:27884173|PMID:28166811|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23461807|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25569433|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27854218|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:29338689|PMID:29408964|PMID:29420094|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12409662|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17372903|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23461807|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25440022|PMID:25569433|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:29408964|PMID:29420094|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26758973|PMID:26845104|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16767674|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17316110|PMID:17372903|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24267509|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24716929|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25326637|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26758973|PMID:26845104|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34925234|PMID:35535697|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7915165|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10369718|PMID:10445857|PMID:10521317|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11436122|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12214285|PMID:12410354|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588381|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16227613|PMID:16322339|PMID:16343097|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17316110|PMID:17372903|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18280283|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20719260|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24267509|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24560924|PMID:24617864|PMID:24651702|PMID:24728327|PMID:24755471|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25569433|PMID:25624014|PMID:25637381|PMID:25694125|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26758973|PMID:26845104|PMID:26883533|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4 PMID:27379493|PMID:27525386|PMID:27539324|PMID:27600092|PMID:27673361|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28323957|PMID:28492532|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33161056|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33615670|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34629742|PMID:34637071|PMID:34881033|PMID:34925234|PMID:36407031|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8894691|PMID:8896569|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10521317|PMID:10522989|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11351254|PMID:11389085|PMID:11390647|PMID:11436122|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11900218|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16118333|PMID:16227613|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16778204|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17188172|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18984779|PMID:19015274|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20719260|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24267509|PMID:24336963 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25151137|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26687385|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27698838|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28202063|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:2904651|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33098376|PMID:33161056|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33615670|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34629742|PMID:34637071|PMID:34646395|PMID:34777782|PMID:34881033|PMID:34905813|PMID:34925234|PMID:35189708|PMID:35264596|PMID:35535697|PMID:36407031|PMID:7536460|PMID:7581377|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8894691|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10521317|PMID:10522989|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11351254|PMID:11389085|PMID:11390647|PMID:11436122|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11900218|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16118333|PMID:16227613|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16778204|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17188172|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20719260|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21552134|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24267509 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2 PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24617864|PMID:24618965|PMID:24651702|PMID:24699901|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25151137|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25637381|PMID:25694125|PMID:25695224|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26687385|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27698838|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28202063|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28569245|PMID:28578594|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:2904651|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29397600|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33098376|PMID:33161056|PMID:33167350|PMID:33219105|PMID:33340421|PMID:33450337|PMID:33563768|PMID:33615670|PMID:33763905|PMID:33777662|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34358225|PMID:34629742|PMID:34637071|PMID:34646395|PMID:34777782|PMID:34881033|PMID:34885201|PMID:34905813|PMID:34925234|PMID:35189708|PMID:35264596|PMID:35304457|PMID:35535697|PMID:36407031|PMID:7536460|PMID:7581377|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8894691|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10521317|PMID:10522989|PMID:10528857|PMID:10618407|PMID:10646792|PMID:10664228|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11351254|PMID:11389085|PMID:11390647|PMID:11436122|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11900218|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12628594|PMID:12640453|PMID:12686527|PMID:12865274|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15829955|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16118333|PMID:16199547|PMID:16227613|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16778204|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17188172|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17466010|PMID:17483988|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18280283|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19029228|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19572138|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20598273|PMID:20719260|PMID:20801952|PMID:20847059|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21552134|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185 9045802 Ret ret proto-oncogene gene DOID:10487 Hirschsprung's disease ISO RGD:735296 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hirschsprung Disease, Dominant | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:24267509|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24617864|PMID:24618965|PMID:24651702|PMID:24699901|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24897126|PMID:25027091|PMID:25151137|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25637381|PMID:25694125|PMID:25695224|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26687385|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27698838|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28018431|PMID:28099363|PMID:28125075|PMID:28202063|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28569245|PMID:28578594|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:2904651|PMID:29192238|PMID:29263839|PMID:29338689|PMID:29397600|PMID:29408964|PMID:29420094|PMID:29590403|PMID:29601828|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30583724|PMID:30624503|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32411094|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33098376|PMID:33161056|PMID:33167350|PMID:33219105|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33563768|PMID:33615670|PMID:33763905|PMID:33777662|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34309460|PMID:34358225|PMID:34629742|PMID:34637071|PMID:34646395|PMID:34777782|PMID:34881033|PMID:34885201|PMID:34905813|PMID:34925234|PMID:35189708|PMID:35264596|PMID:35304457|PMID:35535697|PMID:36315513|PMID:36407031|PMID:36900197|PMID:7536460|PMID:7581377|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7874109|PMID:7881414|PMID:7904208|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8001158|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114939|PMID:8114940|PMID:8570194|PMID:8595427|PMID:8654369|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8894691|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681515|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9700200|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991 9045802 Ret ret proto-oncogene gene DOID:10907 microcephaly ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:30217742|PMID:32164334 9045802 Ret ret proto-oncogene gene DOID:11372 megacolon ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:25741868 9045802 Ret ret proto-oncogene gene DOID:11836 clubfoot ISO RGD:11234 D RGD:9068941 20220825 MouseDO OMIM:119800 9045802 Ret ret proto-oncogene gene DOID:14566 disease of cellular proliferation ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:11230481|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12686527|PMID:12746565|PMID:14715928|PMID:15184865|PMID:15855933|PMID:16099853|PMID:16736292|PMID:16868135|PMID:17047083|PMID:17097365|PMID:17188172|PMID:18062802|PMID:18063059|PMID:18096130|PMID:19062722|PMID:19469690|PMID:2008030|PMID:20080836|PMID:20801952|PMID:21655256|PMID:21765987|PMID:21834681|PMID:23330657|PMID:23723040|PMID:23868299|PMID:24716929|PMID:25157968|PMID:25515555|PMID:25741868|PMID:25810047|PMID:26046350|PMID:26467025|PMID:26732158|PMID:26876062|PMID:27539324|PMID:28099363|PMID:28152038|PMID:28469506|PMID:28492532|PMID:29133048|PMID:29197744|PMID:29378479|PMID:29656518|PMID:3078962|PMID:33167350|PMID:33219105|PMID:33827484|PMID:34439168|PMID:35627249|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7860065|PMID:7881414|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:8099202|PMID:8570194|PMID:9067749|PMID:9111992|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9699127|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:1459 hypothyroidism ISO RGD:735296 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypothyroidism PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:29656518|PMID:30660595|PMID:3078962|PMID:31510104|PMID:34629742|PMID:34881033|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 9045802 Ret ret proto-oncogene gene DOID:14766 renal agenesis ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: RENAL APLASIA PMID:10076558|PMID:10679286|PMID:10826520|PMID:10876191|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11732489|PMID:11788682|PMID:12019403|PMID:12193298|PMID:12410354|PMID:15184865|PMID:15320968|PMID:15386323|PMID:15741265|PMID:16343097|PMID:16849421|PMID:16865647|PMID:16868135|PMID:17032739|PMID:17047083|PMID:17316110|PMID:17466010|PMID:17664273|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18299477|PMID:18322301|PMID:18936155|PMID:19269918|PMID:19399650|PMID:19445625|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20142552|PMID:20369307|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20719260|PMID:21134561|PMID:21309721|PMID:21454698|PMID:21479187|PMID:21551259|PMID:21552134|PMID:21711375|PMID:21810974|PMID:21986619|PMID:22584709|PMID:23067224|PMID:23341727|PMID:23468374|PMID:23514012|PMID:24033266|PMID:24336963|PMID:24361808|PMID:24560924|PMID:24617864|PMID:24699901|PMID:24728327|PMID:25349307|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25637381|PMID:25695224|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:26033033|PMID:26046350|PMID:26332594|PMID:26467025|PMID:26489027|PMID:26758973|PMID:26845104|PMID:27099842|PMID:27379493|PMID:28125075|PMID:28492532|PMID:28946813|PMID:29590403|PMID:31159747|PMID:31510104|PMID:32923848|PMID:33167350|PMID:33450337|PMID:33615670|PMID:33777662|PMID:34637071|PMID:35264596|PMID:8797874|PMID:9452077|PMID:9606292 9045802 Ret ret proto-oncogene gene DOID:1612 breast cancer ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10646792|PMID:11955539|PMID:12566528|PMID:14566559|PMID:14633923|PMID:15741265|PMID:16441254|PMID:16928683|PMID:20956458|PMID:20981092|PMID:21655256|PMID:21995290|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22995991|PMID:23084198|PMID:23527089|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27884173|PMID:28492532|PMID:31614935|PMID:7647787|PMID:7881414|PMID:9727738|PMID:9760196 9045802 Ret ret proto-oncogene gene DOID:1793 pancreatic cancer disease_progression ISO RGD:735296 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:16269310|REF_RGD_ID:2324926 9045802 Ret ret proto-oncogene gene DOID:1824 status epilepticus ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12914250 9045802 Ret ret proto-oncogene gene DOID:2316 brain ischemia ISO RGD:3556 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:10407114|REF_RGD_ID:6218981 9045802 Ret ret proto-oncogene gene DOID:2394 ovarian cancer ISO RGD:735296 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10076558|PMID:10679286|PMID:10826520|PMID:10876191|PMID:11114642|PMID:11238493|PMID:11732489|PMID:11788682|PMID:12019403|PMID:12193298|PMID:12410354|PMID:15184865|PMID:15386323|PMID:15741265|PMID:16343097|PMID:16865647|PMID:16868135|PMID:17032739|PMID:17047083|PMID:17316110|PMID:17466010|PMID:17664273|PMID:17895320|PMID:18062802|PMID:18299477|PMID:19445625|PMID:19958926|PMID:20039896|PMID:20142552|PMID:20369307|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20719260|PMID:21134561|PMID:21309721|PMID:21454698|PMID:21711375|PMID:21810974|PMID:22174939|PMID:23341727|PMID:23468374|PMID:23514012|PMID:24033266|PMID:24336963|PMID:24361808|PMID:24560924|PMID:24617864|PMID:25349307|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:26033033|PMID:26046350|PMID:26467025|PMID:26758973|PMID:26845104|PMID:27099842|PMID:28125075|PMID:28492532|PMID:29192238|PMID:29590403|PMID:29641532|PMID:29684080|PMID:30217742|PMID:31510104|PMID:32164334|PMID:32283892|PMID:32923848|PMID:33167350|PMID:33450337|PMID:33615670|PMID:34637071|PMID:8797874|PMID:9452077|PMID:9606292 9045802 Ret ret proto-oncogene gene DOID:3070 high grade glioma ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma PMID:25741868 9045802 Ret ret proto-oncogene gene DOID:3086 gingival overgrowth ISO RGD:735296 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Gingival enlargement PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:29656518|PMID:30660595|PMID:3078962|PMID:31510104|PMID:34629742|PMID:34881033|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 9045802 Ret ret proto-oncogene gene DOID:3125 multiple endocrine neoplasia ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Endocrine adenomatosis multiple | ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:10220148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10980580|PMID:11230481|PMID:11351254|PMID:11436122|PMID:11562352|PMID:11589684|PMID:11732489|PMID:11939755|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12086152|PMID:12214285|PMID:12566528|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15277225|PMID:15320968|PMID:15472167|PMID:15531714|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16118333|PMID:16424056|PMID:16441254|PMID:16649977|PMID:16705552|PMID:16715139|PMID:16732321|PMID:16849421|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17108110|PMID:17108762|PMID:17344846|PMID:17483988|PMID:17540634|PMID:17610518|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19443294|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:20039896|PMID:20065189|PMID:20080836|PMID:20368568|PMID:20473317|PMID:20516206|PMID:20532249|PMID:20672905|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21253810|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21552134|PMID:21655256|PMID:21765987|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23461807|PMID:23527089|PMID:23660872|PMID:23723040|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24617864|PMID:24618965|PMID:24651702|PMID:24699901|PMID:24728327|PMID:24755471|PMID:24845513|PMID:24897126|PMID:25157968|PMID:25256751|PMID:25425582|PMID:25569433|PMID:25637381|PMID:25695224|PMID:25741868|PMID:25810047|PMID:25985138|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:2660074|PMID:26883533|PMID:27077130|PMID:27153395|PMID:27379493|PMID:27539324|PMID:27600092|PMID:27798940|PMID:27807060|PMID:27884173|PMID:27994876|PMID:28186607|PMID:28469506|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29192238|PMID:29263839|PMID:29420094|PMID:29642553|PMID:29656518|PMID:29790872|PMID:30217742|PMID:30306255|PMID:30583724|PMID:30660595|PMID:30680046|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31263477|PMID:31428572|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33397040|PMID:33450337|PMID:33563768|PMID:33777662|PMID:33827484|PMID:34629742|PMID:34881033|PMID:34905813|PMID:34925234|PMID:35264596|PMID:7536460|PMID:7581377|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8114938|PMID:8570194|PMID:8595427|PMID:8733882|PMID:8782503|PMID:8797874|PMID:8855832|PMID:8918855|PMID:9090527|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9384613|PMID:9498388|PMID:9506724|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9727738|PMID:9760196|PMID:9824583|PMID:9839497 9045802 Ret ret proto-oncogene gene DOID:3459 breast carcinoma ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:25741868|PMID:28492532 9045802 Ret ret proto-oncogene gene DOID:3963 thyroid gland carcinoma ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thyroid gland carcinoma PMID:10522989|PMID:11389085|PMID:11900218|PMID:11987030|PMID:12000816|PMID:12466368|PMID:14561794|PMID:15184865|PMID:15472167|PMID:15588376|PMID:16314641|PMID:16525712|PMID:16707008|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:17065770|PMID:17102080|PMID:17102083|PMID:17178962|PMID:17188172|PMID:17270543|PMID:17316110|PMID:17573899|PMID:17605401|PMID:17639058|PMID:17895320|PMID:18063059|PMID:18209889|PMID:19015274|PMID:19825962|PMID:21690267|PMID:21765987|PMID:21810974|PMID:22900816|PMID:23210566|PMID:23416954|PMID:23617071|PMID:23861463|PMID:24561444|PMID:24784869|PMID:25027091|PMID:25157968|PMID:25440022|PMID:25515555|PMID:25741868|PMID:25810047|PMID:26467025|PMID:27539324|PMID:27698838|PMID:28469506|PMID:28492532|PMID:28569245|PMID:2904651|PMID:29397600|PMID:30624503|PMID:30763276|PMID:3078962|PMID:31510104|PMID:32293499|PMID:33219105|PMID:33340421|PMID:34777782|PMID:34905813|PMID:7608256|PMID:7824936|PMID:7849700|PMID:7907913|PMID:8099202|PMID:8103403|PMID:8570194|PMID:8757765|PMID:8765374|PMID:8909322|PMID:8918855|PMID:9230192 9045802 Ret ret proto-oncogene gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 9045802 Ret ret proto-oncogene gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma PMID:10024437|PMID:10076558|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10522989|PMID:10679286|PMID:10790203|PMID:11114642|PMID:11230481|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11562352|PMID:11688458|PMID:11739416|PMID:11849247|PMID:11900218|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11987030|PMID:12000816|PMID:12116277|PMID:12466368|PMID:12566528|PMID:12673960|PMID:12686527|PMID:12746565|PMID:12788868|PMID:12920219|PMID:14561794|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15345114|PMID:15472167|PMID:15523405|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15753368|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16343097|PMID:16419493|PMID:16469774|PMID:16525712|PMID:16532227|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16778204|PMID:16817830|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17178962|PMID:17188172|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18252215|PMID:18541894|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19255327|PMID:19336503|PMID:19469690|PMID:19472011|PMID:19825962|PMID:19826964|PMID:19906784|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20103606|PMID:20368568|PMID:20497437|PMID:20516206|PMID:20554711|PMID:20672905|PMID:20801952|PMID:20847059|PMID:20943719|PMID:20979234|PMID:21054478|PMID:21253810|PMID:21254918|PMID:21311890|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21551259|PMID:21655256|PMID:21690267|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584710|PMID:22676344|PMID:22703879|PMID:22900816|PMID:22992277|PMID:23056499|PMID:23210566|PMID:23295303|PMID:23330657|PMID:23416954|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23861463|PMID:23868299|PMID:24033266|PMID:24055113|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24375508|PMID:24449023|PMID:24561444|PMID:24617864|PMID:24716929|PMID:24784869|PMID:24805091|PMID:24845513|PMID:25027091|PMID:25157968|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25741868|PMID:25810047|PMID:25887804|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26332594|PMID:26356818|PMID:26467025|PMID:26556299|PMID:2660074|PMID:26678667|PMID:26732158|PMID:26876062|PMID:27014708|PMID:27153395|PMID:27539324|PMID:27673361|PMID:27698838|PMID:27807060|PMID:27994876|PMID:28099363|PMID:28152038|PMID:28186607|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28569245|PMID:28647780|PMID:28873162|PMID:28946813|PMID:28951487|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29378479|PMID:29396759|PMID:29397600|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30172768|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30884088|PMID:30927507|PMID:31263477|PMID:31300450|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32293499|PMID:32408902|PMID:33167350|PMID:33219105|PMID:33340421|PMID:33397040|PMID:33450337|PMID:33532864|PMID:33827484|PMID:34092334|PMID:34439168|PMID:34629742|PMID:34777782|PMID:34881033|PMID:34905813|PMID:35627249|PMID:7536460|PMID:7608256|PMID:7633441|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7977365|PMID:8099202|PMID:8103403 9045802 Ret ret proto-oncogene gene DOID:3973 thyroid gland medullary carcinoma ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9067749|PMID:9090527|PMID:9111992|PMID:9146685|PMID:9150704|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9498388|PMID:9506724|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9699127|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:4232 extraosseous Ewing sarcoma ISO RGD:735296 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ewing sarcoma of soft tissue PMID:24336963|PMID:24429398|PMID:24755471|PMID:25256751|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:29263839|PMID:29642553|PMID:30583724|PMID:30680046|PMID:31428572|PMID:31658439|PMID:32099073|PMID:32179705 9045802 Ret ret proto-oncogene gene DOID:4851 pilocytic astrocytoma ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pilocytic astrocytoma PMID:25741868|PMID:28492532 9045802 Ret ret proto-oncogene gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:10646792|PMID:12566528|PMID:14566559|PMID:14633923|PMID:15741265|PMID:16441254|PMID:16928683|PMID:20981092|PMID:21655256|PMID:21995290|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22995991|PMID:23084198|PMID:23527089|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:27153395|PMID:27884173|PMID:28492532|PMID:7647787|PMID:7881414|PMID:9727738|PMID:9760196 9045802 Ret ret proto-oncogene gene DOID:630 genetic disease ISO RGD:735296 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:29656518|PMID:30660595|PMID:3078962|PMID:31510104|PMID:34629742|PMID:34881033|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 9045802 Ret ret proto-oncogene gene DOID:6419 tetralogy of Fallot ISO RGD:735296 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Fallot tetralogy PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:29656518|PMID:30660595|PMID:3078962|PMID:31510104|PMID:34629742|PMID:34881033|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 9045802 Ret ret proto-oncogene gene DOID:684 hepatocellular carcinoma ISO RGD:735296 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hepatocellular carcinoma PMID:11230481|PMID:12116277|PMID:14715928|PMID:15184865|PMID:15855933|PMID:16736292|PMID:17047083|PMID:17097365|PMID:18062802|PMID:25157968|PMID:25810047|PMID:26046350|PMID:28492532|PMID:29656518|PMID:7784092|PMID:7845675|PMID:7911697|PMID:9111992|PMID:9242375|PMID:9263528 9045802 Ret ret proto-oncogene gene DOID:684 hepatocellular carcinoma severity ISO RGD:735296 D RGD:9068941 20210820 RGD protein:increased expression:liver (human) PMID:28350084|REF_RGD_ID:150340602 9045802 Ret ret proto-oncogene gene DOID:8337 appendicitis ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Appendicitis PMID:11230481|PMID:15320968|PMID:16384843|PMID:16849421|PMID:18058472|PMID:18322301|PMID:18936155|PMID:19269918|PMID:19399650|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:21479187|PMID:21551259|PMID:21552134|PMID:21986619|PMID:22584709|PMID:23067224|PMID:24033266|PMID:24699901|PMID:24728327|PMID:25637381|PMID:25695224|PMID:25741868|PMID:25810047|PMID:26332594|PMID:26467025|PMID:26489027|PMID:27379493|PMID:28492532|PMID:28946813|PMID:31159747|PMID:31937788|PMID:33167350|PMID:33777662|PMID:35264596 9045802 Ret ret proto-oncogene gene DOID:8584 Burkitt lymphoma ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143597 9045802 Ret ret proto-oncogene gene DOID:9000081 Lymphatic Metastasis ISO RGD:735296 D RGD:9068941 20200609 RGD associated with Pancreatic Neoplasms PMID:18652760|REF_RGD_ID:2324925 9045802 Ret ret proto-oncogene gene DOID:9000998 Brain Injuries ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:18501516|REF_RGD_ID:2324932 9045802 Ret ret proto-oncogene gene DOID:9001581 Constipation ISO RGD:735296 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Constipation PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:29656518|PMID:30660595|PMID:3078962|PMID:31510104|PMID:34629742|PMID:34881033|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 9045802 Ret ret proto-oncogene gene DOID:9001929 Hypoglossal Nerve Injuries ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:increased expression:hypoglossal XII nerve PMID:10407179|REF_RGD_ID:6218979 9045802 Ret ret proto-oncogene gene DOID:9003133 Hypertelorism ISO RGD:735296 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:29656518|PMID:30660595|PMID:3078962|PMID:31510104|PMID:34629742|PMID:34881033|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 9045802 Ret ret proto-oncogene gene DOID:9003763 Renal Hypodysplasia/Aplasia 1 ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: RENAL HYPODYSPLASIA/APLASIA 1 | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:10076558|PMID:10528857|PMID:10646792|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10980580|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11436122|PMID:11589684|PMID:11732489|PMID:11788682|PMID:11953745|PMID:11955539|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12193298|PMID:12214285|PMID:12410354|PMID:12566528|PMID:12872262|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:15184865|PMID:15320968|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15741265|PMID:15753368|PMID:15834508|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16118333|PMID:16343097|PMID:16424056|PMID:16441254|PMID:16649977|PMID:16705552|PMID:16732321|PMID:16849421|PMID:16865647|PMID:16868135|PMID:16928683|PMID:16986122|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17108762|PMID:17316110|PMID:17344846|PMID:17466010|PMID:17483988|PMID:17610518|PMID:17664273|PMID:17895320|PMID:18058472|PMID:18062802|PMID:18252215|PMID:18299477|PMID:18322301|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19269918|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20080836|PMID:20142552|PMID:20369307|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20719260|PMID:20801952|PMID:20956458|PMID:20981092|PMID:21134561|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21454698|PMID:21479187|PMID:21490379|PMID:21551259|PMID:21552134|PMID:21655256|PMID:21711375|PMID:21810974|PMID:21986619|PMID:21995290|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22395866|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22995991|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23341727|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23527089|PMID:23723040|PMID:23849459|PMID:24033266|PMID:24055113|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24560924|PMID:24617864|PMID:24618965|PMID:24651702|PMID:24699901|PMID:24728327|PMID:24755471|PMID:24845513|PMID:24897126|PMID:25256751|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25569433|PMID:25624014|PMID:25637381|PMID:25695224|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26046350|PMID:26076779|PMID:26206375|PMID:26332594|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26556299|PMID:26580448|PMID:26758973|PMID:26845104|PMID:26883533|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27379493|PMID:27600092|PMID:27798940|PMID:27884173|PMID:28125075|PMID:28492532|PMID:28946813|PMID:29192238|PMID:29263839|PMID:29420094|PMID:29590403|PMID:29642553|PMID:30217742|PMID:30306255|PMID:30583724|PMID:30680046|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31428572|PMID:31510104|PMID:31614935|PMID:31658439|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32732076|PMID:32761341|PMID:32923848|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33450337|PMID:33563768|PMID:33615670|PMID:33777662|PMID:33827484|PMID:34637071|PMID:34925234|PMID:35264596|PMID:7581377|PMID:7647787|PMID:7704557|PMID:7881414|PMID:8114938|PMID:8797874|PMID:9090527|PMID:9452077|PMID:9506724|PMID:9606292|PMID:9727738|PMID:9760196 9045802 Ret ret proto-oncogene gene DOID:9004001 Facial Nerve Injuries ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:increased expression:facial VII nucleus PMID:9582449|REF_RGD_ID:6218984 9045802 Ret ret proto-oncogene gene DOID:9004286 Hirschsprung Disease 1 ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hirschsprung disease 1 PMID:10076558|PMID:10220148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10490816|PMID:10679286|PMID:10790203|PMID:10826520|PMID:10876191|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11562352|PMID:11732489|PMID:11788682|PMID:12019403|PMID:12193298|PMID:12410354|PMID:15184865|PMID:15277225|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15531714|PMID:15699703|PMID:15741265|PMID:15858153|PMID:15991157|PMID:16343097|PMID:16419493|PMID:16715139|PMID:16849421|PMID:16865647|PMID:16868135|PMID:17032739|PMID:17047083|PMID:17108110|PMID:17316110|PMID:17466010|PMID:17540634|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19445625|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20065189|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20719260|PMID:20847059|PMID:20979234|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21551259|PMID:21552134|PMID:21678021|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21986619|PMID:22025146|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22359510|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676344|PMID:22865907|PMID:22992277|PMID:23056499|PMID:23067224|PMID:23341727|PMID:23468374|PMID:23514012|PMID:23660872|PMID:24033266|PMID:24336963|PMID:24361808|PMID:24560924|PMID:24617864|PMID:24699901|PMID:24728327|PMID:25157968|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25637381|PMID:25695224|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:26033033|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26467025|PMID:26489027|PMID:2660074|PMID:26758973|PMID:26845104|PMID:27014708|PMID:27099842|PMID:27379493|PMID:27539324|PMID:27657687|PMID:27673361|PMID:27807060|PMID:27994876|PMID:28125075|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29408964|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29656518|PMID:29684080|PMID:29790872|PMID:30217742|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30927507|PMID:31159747|PMID:31447099|PMID:31510104|PMID:32179705|PMID:32375120|PMID:32923848|PMID:33167350|PMID:33450337|PMID:33615670|PMID:33763905|PMID:33777662|PMID:33827484|PMID:34629742|PMID:34637071|PMID:34881033|PMID:34885201|PMID:35264596|PMID:35304457|PMID:7536460|PMID:7633441|PMID:7824936|PMID:7845675|PMID:7849720|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8114939|PMID:8570194|PMID:8595427|PMID:8733882|PMID:8782503|PMID:8797874|PMID:8855832|PMID:8918855|PMID:9146685|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9452077|PMID:9498388|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9824583|PMID:9839497 9045802 Ret ret proto-oncogene gene DOID:9004478 Islet Cell Tumor Syndrome ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Chromaffinoma PMID:10076558|PMID:10369718|PMID:10445857|PMID:10679286|PMID:10826520|PMID:10876191|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11351254|PMID:11732489|PMID:11788682|PMID:11939755|PMID:12000816|PMID:12019403|PMID:12193298|PMID:12410354|PMID:15184865|PMID:15277225|PMID:15320968|PMID:15331579|PMID:15386323|PMID:15741265|PMID:15858153|PMID:16343097|PMID:16715139|PMID:16849421|PMID:16865647|PMID:16868135|PMID:17032739|PMID:17047083|PMID:17108110|PMID:17316110|PMID:17466010|PMID:17540634|PMID:17664273|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18936155|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19269918|PMID:19399650|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19826964|PMID:19906784|PMID:19958926|PMID:20039896|PMID:20065189|PMID:20103606|PMID:20142552|PMID:20368568|PMID:20369307|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20672905|PMID:20719260|PMID:20847059|PMID:20943719|PMID:21134561|PMID:21253810|PMID:21309721|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21479187|PMID:21551259|PMID:21552134|PMID:21678021|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21986619|PMID:22025146|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22584709|PMID:22676344|PMID:22865907|PMID:22992277|PMID:23056499|PMID:23067224|PMID:23341727|PMID:23468374|PMID:23514012|PMID:23660872|PMID:24033266|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24560924|PMID:24617864|PMID:24699901|PMID:24728327|PMID:25157968|PMID:25349307|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25624014|PMID:25637381|PMID:25695224|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25903693|PMID:26033033|PMID:26046350|PMID:26084817|PMID:26269449|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26467025|PMID:26489027|PMID:2660074|PMID:26758973|PMID:26845104|PMID:27099842|PMID:27379493|PMID:27539324|PMID:27673361|PMID:27807060|PMID:28125075|PMID:28186607|PMID:28469506|PMID:28492532|PMID:28873162|PMID:28946813|PMID:29408964|PMID:29590403|PMID:29625052|PMID:29656518|PMID:29684080|PMID:30217742|PMID:30660595|PMID:3078962|PMID:30927507|PMID:31159747|PMID:31263477|PMID:31510104|PMID:32375120|PMID:32923848|PMID:33167350|PMID:33397040|PMID:33450337|PMID:33615670|PMID:33763905|PMID:33777662|PMID:33827484|PMID:34629742|PMID:34637071|PMID:34881033|PMID:34885201|PMID:34905813|PMID:35264596|PMID:35304457|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9263528|PMID:9452077|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9839497 9045802 Ret ret proto-oncogene gene DOID:9004492 Familial Amyloidosis ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12864791 9045802 Ret ret proto-oncogene gene DOID:9004547 Thyroid Neoplasms ISO RGD:735296 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neoplasm of the thyroid gland PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:11939755|PMID:12000816|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:19469690|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20672905|PMID:20847059|PMID:20943719|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24331334|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28186607|PMID:28469506|PMID:28492532|PMID:28873162|PMID:29656518|PMID:30660595|PMID:3078962|PMID:31263477|PMID:31510104|PMID:33397040|PMID:33450337|PMID:33827484|PMID:34629742|PMID:34881033|PMID:34905813|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 9045802 Ret ret proto-oncogene gene DOID:9005077 Joint Instability ISO RGD:735296 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:29656518|PMID:30660595|PMID:3078962|PMID:31510104|PMID:34629742|PMID:34881033|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 9045802 Ret ret proto-oncogene gene DOID:9006195 Medullary Carcinomas ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7915165 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10445857|PMID:10462620|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11073534|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11389085|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11849247|PMID:11932300|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12746565|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16314641|PMID:16343097|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19062722|PMID:19177457|PMID:19201392|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20152359|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20801952|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21134561|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21520333|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22274720|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31510104|PMID:31614935|PMID:32283892|PMID:33167350|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10980580|PMID:10982477|PMID:11073534|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11732489|PMID:11739416|PMID:11849247|PMID:11932300|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12746565|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15386323|PMID:15472167|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16314641|PMID:16343097|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18772120|PMID:18805915|PMID:18936155|PMID:19015274|PMID:19062722|PMID:19177457|PMID:19201392|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19469690|PMID:19472011|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20152359|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20801952|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21134561|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422803|PMID:21470995|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21711375|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22174939|PMID:22270996|PMID:22274720|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22676047|PMID:22703879|PMID:22729463|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29338689|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:32179705|PMID:32283892|PMID:32430905|PMID:33167350|PMID:33433679|PMID:33827484|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28873162|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29097883|PMID:29133048|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30624503|PMID:30660595|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:32091409|PMID:32099073|PMID:32179705|PMID:32283892|PMID:32375120|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33827484|PMID:33981013|PMID:34771502|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8909322|PMID:8918855|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18252215|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267|PMID:21706185|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25256751|PMID:25319874|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25985138|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26845104|PMID:26876062|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28166811|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29378779|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31666091|PMID:31892348|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32989896|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34646395|PMID:34771502|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27854218|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34646395|PMID:34771502|PMID:34925234|PMID:35535697|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10549772|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11149622|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15523405|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20142552|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21186952|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021|PMID:21688339|PMID:21690267 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21706185|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25326637|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34646395|PMID:34771502|PMID:34925234|PMID:35535697|PMID:36251279|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:7633441|PMID:7647787|PMID:7704557|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21706185|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24134185|PMID:24152999|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30012587|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33615670|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34637071|PMID:34646395|PMID:34771502|PMID:34925234|PMID:35535697|PMID:36251279|PMID:3697657|PMID:7536460|PMID:7581377 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7716719|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10549772|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11149622|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11900218|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12604374|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15523405|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17188172|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:18984779|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20142552|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21186952|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21606412|PMID:21626080|PMID:21655256|PMID:21678021 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:21688339|PMID:21690267|PMID:21706185|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24152999|PMID:24267509|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25151137|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29396759|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30012587|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30653460|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31471357|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32430905|PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33098376|PMID:33161056|PMID:33167350|PMID:33340421|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33606809|PMID:33615670|PMID:33754314 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:33827484|PMID:33981013|PMID:34092334|PMID:34267336|PMID:34439168|PMID:34629742|PMID:34637071|PMID:34646395|PMID:34771502|PMID:34777782|PMID:34881033|PMID:34905813|PMID:34925234|PMID:35189708|PMID:35264596|PMID:35535697|PMID:36251279|PMID:36407031|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7716719|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10024437|PMID:10049754|PMID:10076558|PMID:10090908|PMID:10220148|PMID:10235148|PMID:10369718|PMID:10445857|PMID:10462620|PMID:10465268|PMID:10484767|PMID:10490816|PMID:10522989|PMID:10528857|PMID:10549772|PMID:10612852|PMID:10618407|PMID:10646792|PMID:10679286|PMID:10777380|PMID:10790203|PMID:10826520|PMID:10876191|PMID:10921886|PMID:10946353|PMID:10980580|PMID:10982477|PMID:11061555|PMID:11073534|PMID:11114642|PMID:11149622|PMID:11230481|PMID:11238493|PMID:11295841|PMID:11313948|PMID:11331212|PMID:11351254|PMID:11386462|PMID:11389085|PMID:11390647|PMID:11395220|PMID:11436122|PMID:11454140|PMID:11471675|PMID:11502806|PMID:11524247|PMID:11562352|PMID:11564857|PMID:11589684|PMID:11688458|PMID:11692159|PMID:11732489|PMID:11739416|PMID:11788682|PMID:11849247|PMID:11900218|PMID:11932300|PMID:11935126|PMID:11939755|PMID:11953745|PMID:11955539|PMID:11987030|PMID:12000816|PMID:12016484|PMID:12019403|PMID:12050290|PMID:12072055|PMID:12086152|PMID:12116277|PMID:12150334|PMID:12193298|PMID:12214285|PMID:12409662|PMID:12410354|PMID:12466368|PMID:12490841|PMID:12566528|PMID:12640453|PMID:12686527|PMID:12694233|PMID:12734540|PMID:12746565|PMID:12788868|PMID:12872262|PMID:12915470|PMID:12920219|PMID:14517954|PMID:14557476|PMID:14561794|PMID:14566559|PMID:14602786|PMID:14627689|PMID:14633923|PMID:14715928|PMID:14718397|PMID:15184865|PMID:15240641|PMID:15277225|PMID:15292360|PMID:15320968|PMID:15331579|PMID:15345114|PMID:15386323|PMID:15472167|PMID:15523405|PMID:15531548|PMID:15531714|PMID:15588376|PMID:15588381|PMID:15699703|PMID:15741265|PMID:15744028|PMID:15753368|PMID:15834508|PMID:15855933|PMID:15858153|PMID:15870131|PMID:15933516|PMID:15956201|PMID:15991157|PMID:16053382|PMID:16099853|PMID:16118333|PMID:16199547|PMID:16227613|PMID:16275981|PMID:16314641|PMID:16322339|PMID:16325365|PMID:16343097|PMID:16343103|PMID:16391329|PMID:16419493|PMID:16424056|PMID:16441254|PMID:16469774|PMID:16507829|PMID:16525712|PMID:16532227|PMID:16565500|PMID:16649977|PMID:16705552|PMID:16707008|PMID:16712668|PMID:16715139|PMID:16732321|PMID:16736292|PMID:16767674|PMID:16778204|PMID:16813623|PMID:16817830|PMID:16818057|PMID:16839264|PMID:16849421|PMID:16865646|PMID:16865647|PMID:16868135|PMID:16928683|PMID:17009072|PMID:17021738|PMID:17032739|PMID:17047083|PMID:17065770|PMID:17097365|PMID:17102080|PMID:17102083|PMID:17108110|PMID:17108762|PMID:17178962|PMID:17188172|PMID:17209045|PMID:17270543|PMID:17316110|PMID:17344846|PMID:17372903|PMID:17384210|PMID:17466010|PMID:17483988|PMID:17527003|PMID:17540634|PMID:17573899|PMID:17576681|PMID:17590169|PMID:17605401|PMID:17610518|PMID:17639058|PMID:17664273|PMID:17704047|PMID:17895320|PMID:17898100|PMID:17963006|PMID:18058472|PMID:18062802|PMID:18063059|PMID:18073307|PMID:18096130|PMID:18206480|PMID:18209889|PMID:18248647|PMID:18248648|PMID:18252215|PMID:18299477|PMID:18322301|PMID:18541894|PMID:18551016|PMID:18772120|PMID:18805915|PMID:18936155|PMID:18976013|PMID:19015274|PMID:19041016|PMID:19062722|PMID:19169500|PMID:19177457|PMID:19201392|PMID:19255327|PMID:19269918|PMID:19336503|PMID:19399650|PMID:19443294|PMID:19445625|PMID:19469690|PMID:19472011|PMID:19475497|PMID:19522830|PMID:19775624|PMID:19825962|PMID:19826964|PMID:19853744|PMID:19906784|PMID:19958926|PMID:20013610|PMID:20039896|PMID:20041006|PMID:20065189|PMID:2008030|PMID:20080836|PMID:20087666|PMID:20103606|PMID:20119574|PMID:20142552|PMID:20152359|PMID:20368568|PMID:20369307|PMID:20442138|PMID:20456320|PMID:20473317|PMID:20494215|PMID:20497437|PMID:20516206|PMID:20532249|PMID:20554711|PMID:20664475|PMID:20672905|PMID:20719260|PMID:20739875|PMID:20801952|PMID:20833330|PMID:20847059|PMID:20943719|PMID:20956458|PMID:20979234|PMID:20981092|PMID:21054478|PMID:21134561|PMID:21186952|PMID:21253810|PMID:21254918|PMID:21309721|PMID:21311890|PMID:21349203|PMID:21422799|PMID:21422803|PMID:21454698|PMID:21455200|PMID:21470995|PMID:21475823|PMID:21479187|PMID:21490379|PMID:21542403|PMID:21551259|PMID:21552134|PMID:21606412|PMID:21626080|PMID:21655256 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:21678021|PMID:21688339|PMID:21690267|PMID:21706185|PMID:21711375|PMID:21712996|PMID:21765987|PMID:21810974|PMID:21834681|PMID:21900877|PMID:21934104|PMID:21986619|PMID:21995290|PMID:22025146|PMID:22068382|PMID:22111543|PMID:22131258|PMID:22136840|PMID:22174939|PMID:22199277|PMID:22233172|PMID:22270996|PMID:22274720|PMID:22359510|PMID:22395866|PMID:22403753|PMID:22517557|PMID:22574178|PMID:22584703|PMID:22584709|PMID:22584710|PMID:22648184|PMID:22648435|PMID:22676047|PMID:22676344|PMID:22703879|PMID:22729463|PMID:22734615|PMID:22747440|PMID:22811860|PMID:22837065|PMID:22865907|PMID:22900816|PMID:22965292|PMID:22992277|PMID:22995991|PMID:23056499|PMID:23059849|PMID:23067224|PMID:23084198|PMID:23210566|PMID:23259706|PMID:23278115|PMID:23295303|PMID:23330657|PMID:23341727|PMID:23372769|PMID:23400839|PMID:23407919|PMID:23416954|PMID:23461807|PMID:23468374|PMID:23514012|PMID:23526464|PMID:23527089|PMID:23617071|PMID:23660872|PMID:23723040|PMID:23744765|PMID:23745650|PMID:23756355|PMID:23849459|PMID:23861463|PMID:23868299|PMID:24033266|PMID:24055113|PMID:24064755|PMID:24134185|PMID:24152999|PMID:24267509|PMID:24331334|PMID:24336963|PMID:24361808|PMID:24375508|PMID:24429398|PMID:24442913|PMID:24449023|PMID:24449676|PMID:24560924|PMID:24561444|PMID:24569963|PMID:24616773|PMID:24617864|PMID:24618965|PMID:24651702|PMID:24684035|PMID:24699901|PMID:24716929|PMID:24728327|PMID:24745698|PMID:24755471|PMID:24784869|PMID:24794695|PMID:24805091|PMID:24845513|PMID:24972642|PMID:25027091|PMID:25122427|PMID:25143909|PMID:25151137|PMID:25157968|PMID:25244518|PMID:25256751|PMID:25319874|PMID:25349307|PMID:25374962|PMID:25425582|PMID:25440022|PMID:25501606|PMID:25515555|PMID:25569433|PMID:25624014|PMID:25628771|PMID:25637381|PMID:25694125|PMID:25695224|PMID:25725622|PMID:25733075|PMID:25741868|PMID:25759805|PMID:25767701|PMID:25810047|PMID:25877891|PMID:25887804|PMID:25903693|PMID:25985138|PMID:26033033|PMID:26034076|PMID:26046350|PMID:26071011|PMID:26076779|PMID:26084817|PMID:26206375|PMID:26230854|PMID:26247112|PMID:26254625|PMID:26269449|PMID:26321248|PMID:26332594|PMID:26343384|PMID:26356818|PMID:26395553|PMID:26467025|PMID:26489027|PMID:26517685|PMID:26556299|PMID:26559152|PMID:26580448|PMID:2660074|PMID:26678667|PMID:26687385|PMID:26732158|PMID:26758973|PMID:26845104|PMID:26876062|PMID:26883533|PMID:26920351|PMID:27014708|PMID:27077130|PMID:27099842|PMID:27153395|PMID:27207748|PMID:27349013|PMID:27379493|PMID:27400880|PMID:27525386|PMID:27527004|PMID:27539324|PMID:27600092|PMID:27657687|PMID:27673361|PMID:27683183|PMID:27698838|PMID:27704398|PMID:27717313|PMID:27798940|PMID:27807060|PMID:27809725|PMID:27838608|PMID:27847096|PMID:27854218|PMID:27884173|PMID:27994876|PMID:28099363|PMID:28125075|PMID:28137737|PMID:28152038|PMID:28186607|PMID:28202063|PMID:28276298|PMID:28323957|PMID:28469506|PMID:28492532|PMID:28566479|PMID:28569245|PMID:28578594|PMID:28647780|PMID:28724667|PMID:28799054|PMID:28873162|PMID:28943896|PMID:28946813|PMID:28951487|PMID:29020875|PMID:29026273|PMID:2904651|PMID:29077903|PMID:29097883|PMID:29133048|PMID:29192238|PMID:29197744|PMID:29261189|PMID:29263839|PMID:29312610|PMID:29338689|PMID:29378479|PMID:29396759|PMID:29397600|PMID:29408964|PMID:29420094|PMID:29515777|PMID:29549836|PMID:29590403|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29656518|PMID:29684080|PMID:29790872|PMID:29850289|PMID:30012587|PMID:30031151|PMID:30122538|PMID:30172768|PMID:30197081|PMID:30217742|PMID:30306255|PMID:30349395|PMID:30392857|PMID:30446652|PMID:30550378|PMID:30583724|PMID:30618340|PMID:30624503|PMID:30653460|PMID:30660595|PMID:30666164|PMID:30680046|PMID:30734711|PMID:30763276|PMID:3078962|PMID:30877234|PMID:30884088|PMID:30927507|PMID:31019283|PMID:31159747|PMID:31263477|PMID:31300450|PMID:31428572|PMID:31431315|PMID:31447099|PMID:31471357|PMID:31510104|PMID:31614935|PMID:31658439|PMID:31666091|PMID:32091409|PMID:32099073|PMID:32164334|PMID:32179705|PMID:32283892|PMID:32293499|PMID:32375120|PMID:32408902|PMID:32411094|PMID:32430905 9045802 Ret ret proto-oncogene gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:735296 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:32732076|PMID:32761341|PMID:32823925|PMID:32923848|PMID:32989896|PMID:33084974|PMID:33098376|PMID:33161056|PMID:33167350|PMID:33219105|PMID:33340421|PMID:33397040|PMID:33433679|PMID:33450337|PMID:33532864|PMID:33563768|PMID:33606809|PMID:33615670|PMID:33754314|PMID:33763905|PMID:33777662|PMID:33827484|PMID:33981013|PMID:34092334|PMID:34267336|PMID:34308104|PMID:34309460|PMID:34439168|PMID:34629742|PMID:34637071|PMID:34646395|PMID:34771502|PMID:34777782|PMID:34881033|PMID:34885201|PMID:34905813|PMID:34925234|PMID:35189708|PMID:35264596|PMID:35304457|PMID:35535697|PMID:35627249|PMID:36251279|PMID:36315513|PMID:36407031|PMID:36451132|PMID:36900197|PMID:3697657|PMID:7536460|PMID:7581377|PMID:7595170|PMID:7608256|PMID:7633441|PMID:7647787|PMID:7704557|PMID:7716719|PMID:7784092|PMID:7824936|PMID:7835899|PMID:7845675|PMID:7849700|PMID:7849720|PMID:7860065|PMID:7874109|PMID:7881414|PMID:7906417|PMID:7906866|PMID:7907913|PMID:7911697|PMID:7914213|PMID:7915165|PMID:7915166|PMID:7977365|PMID:8084609|PMID:8099202|PMID:8103403|PMID:8114938|PMID:8114940|PMID:8556059|PMID:8557249|PMID:8570194|PMID:8595427|PMID:8626834|PMID:8675603|PMID:8733882|PMID:8757765|PMID:8765374|PMID:8782503|PMID:8797874|PMID:8807338|PMID:8825918|PMID:8852653|PMID:8855832|PMID:8896569|PMID:8909322|PMID:8918855|PMID:9012462|PMID:9047383|PMID:9067749|PMID:9068588|PMID:9075701|PMID:9090527|PMID:9111992|PMID:9111993|PMID:9146685|PMID:9174404|PMID:9223675|PMID:9230192|PMID:9242375|PMID:9259198|PMID:9263528|PMID:9294615|PMID:9384613|PMID:9398735|PMID:9452077|PMID:9467562|PMID:9497256|PMID:9498388|PMID:9502784|PMID:9506724|PMID:9536098|PMID:9606292|PMID:9620546|PMID:9681850|PMID:9681851|PMID:9681852|PMID:9699127|PMID:9727738|PMID:9745455|PMID:9760196|PMID:9820617|PMID:9824583|PMID:9839497|PMID:9868860|PMID:9879991|PMID:9950371 9045802 Ret ret proto-oncogene gene DOID:9007661 Dwarfism ISO RGD:735296 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Short stature PMID:10369718|PMID:10445857|PMID:10679286|PMID:11351254|PMID:15277225|PMID:16715139|PMID:17108110|PMID:17540634|PMID:17895320|PMID:17963006|PMID:18073307|PMID:18209889|PMID:18252215|PMID:18541894|PMID:19041016|PMID:19169500|PMID:19255327|PMID:20065189|PMID:20368568|PMID:20516206|PMID:20847059|PMID:21253810|PMID:21422803|PMID:21455200|PMID:21470995|PMID:21765987|PMID:21810974|PMID:22025146|PMID:22199277|PMID:22233172|PMID:22359510|PMID:22676344|PMID:22992277|PMID:23056499|PMID:23660872|PMID:24336963|PMID:25157968|PMID:25741868|PMID:25810047|PMID:26084817|PMID:26467025|PMID:2660074|PMID:27539324|PMID:27807060|PMID:28492532|PMID:28873162|PMID:29656518|PMID:30660595|PMID:3078962|PMID:31510104|PMID:34629742|PMID:34881033|PMID:7536460|PMID:7824936|PMID:7845675|PMID:7906417|PMID:7906866|PMID:7911697|PMID:7977365|PMID:8570194|PMID:8595427|PMID:8782503|PMID:8797874|PMID:8918855|PMID:9242375|PMID:9620546|PMID:9681850|PMID:9839497 9045802 Ret ret proto-oncogene gene DOID:9008443 Colorectal Neoplasms ISO RGD:735296 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18507500|PMID:21278247 9045802 Ret ret proto-oncogene gene DOID:9008681 Deafness ISO RGD:3556 D RGD:9068941 20200609 RGD mRNA:increased expression:vestibulocochlear VIII nerve cochlear component PMID:16738479|REF_RGD_ID:2324943 9045802 Ret ret proto-oncogene gene DOID:9008952 Breast Cancer, Familial ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12000816|PMID:12566528|PMID:15531714|PMID:15753368|PMID:15870131|PMID:16118333|PMID:16705552|PMID:17021738|PMID:17483988|PMID:17610518|PMID:19826964|PMID:19906784|PMID:20080836|PMID:21311890|PMID:21810974|PMID:22584710|PMID:22703879|PMID:23723040|PMID:24033266|PMID:24375508|PMID:25425582|PMID:25637381|PMID:25741868|PMID:27153395|PMID:28492532|PMID:31510104|PMID:9090527|PMID:9506724 9045802 Ret ret proto-oncogene gene DOID:9256 colorectal cancer ISO RGD:735296 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 9045826 Hnf1a HNF1 homeobox A gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:737153 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:10333057|PMID:10588527|PMID:10634407|PMID:10852449|PMID:11058894|PMID:11289470|PMID:12359128|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12675668|PMID:12788852|PMID:15031772|PMID:15277395|PMID:15761192|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513305|PMID:18811724|PMID:19672314|PMID:20031592|PMID:20393147|PMID:20690076|PMID:20981092|PMID:23348805|PMID:23771925|PMID:24097065|PMID:24728327|PMID:24933231|PMID:25057215|PMID:25575005|PMID:25741868|PMID:26467025|PMID:26981542|PMID:27035118|PMID:27130141|PMID:27899486|PMID:28105082|PMID:28492532|PMID:29758564|PMID:29895593|PMID:30455330|PMID:31109344|PMID:31517624|PMID:31673528|PMID:31675503|PMID:32395877|PMID:32910913|PMID:32928877|PMID:33363396|PMID:34668636|PMID:34803393|PMID:35328643|PMID:35673428|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053|PMID:9604876 9045826 Hnf1a HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10027593|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10581189|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10690959|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11904371|PMID:11942313|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14614204|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16602010|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17919177|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19672314|PMID:19754856|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22348187|PMID:22432108|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23616187|PMID:23624530|PMID:23771925|PMID:24014008|PMID:24033266|PMID:24097065|PMID:24698406|PMID:24728327|PMID:24905847|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26817999|PMID:26853433|PMID:26981542|PMID:27148439|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27634015|PMID:27659712|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28166811|PMID:28170077|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:29207974|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30155490|PMID:30191644|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30507613|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31216263|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32238361|PMID:32395877|PMID:32581083|PMID:32684311|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9626139|PMID:9754819 9045826 Hnf1a HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10027593|PMID:10027594|PMID:10078571|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10581189|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10690959|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11904371|PMID:11938027|PMID:11942313|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14614204|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15387959|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16602010|PMID:16834925|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17919177|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19672314|PMID:19754856|PMID:1985954|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23616187|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24698406|PMID:24728327|PMID:24905847|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26552609|PMID:26817999|PMID:26853433|PMID:26981542|PMID:26997508|PMID:27035118|PMID:27083284|PMID:27148439|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27486234|PMID:27634015|PMID:27659712|PMID:27899486|PMID:27913849|PMID:27967291|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28324025|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30121369|PMID:30155490|PMID:30191644|PMID:30202817|PMID:30229274|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30507613|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31216263|PMID:31264968|PMID:31333579|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31483937|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32041611|PMID:32238361|PMID:32375679|PMID:32395877|PMID:32581083|PMID:32684311|PMID:32741144|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34035238|PMID:34161864|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34668636|PMID:34741762|PMID:34803393|PMID:35218126|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962 9045826 Hnf1a HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9626139|PMID:9727913|PMID:9754819|PMID:9867222 9045826 Hnf1a HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10027593|PMID:10027594|PMID:10078571|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10581189|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10690959|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11904371|PMID:11938027|PMID:11942313|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14598263|PMID:14614204|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15387959|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16602010|PMID:16834925|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17576681|PMID:17601994|PMID:17700391|PMID:17919177|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19672314|PMID:19754856|PMID:1985954|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23616187|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24698406|PMID:24728327|PMID:24905847|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25411618|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26552609|PMID:26817999|PMID:26853433|PMID:26981542|PMID:26997508|PMID:27035118|PMID:27083284|PMID:27148439|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27486234|PMID:27634015|PMID:27659712|PMID:27899486|PMID:27913849|PMID:27967291|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28324025|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30121369|PMID:30155490|PMID:30191644|PMID:30202817|PMID:30229274|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30507613|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31216263|PMID:31264968|PMID:31333579|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31419515|PMID:31483937|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32041611|PMID:32238361|PMID:32375679|PMID:32395877|PMID:32581083|PMID:32684311|PMID:32741144|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34035238|PMID:34108472|PMID:34161864|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34668636|PMID:34741762|PMID:34803393|PMID:35218126|PMID:35328643|PMID:35673428|PMID:35846334|PMID:36257325 9045826 Hnf1a HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:36361808|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9536098|PMID:9604876|PMID:9626139|PMID:9727913|PMID:9754819|PMID:9867222 9045826 Hnf1a HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10027593|PMID:10027594|PMID:10078571|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10581189|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10690959|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11904371|PMID:11938027|PMID:11942313|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14598263|PMID:14614204|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15387959|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16602010|PMID:16834925|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17576681|PMID:17601994|PMID:17700391|PMID:17919177|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19672314|PMID:19754856|PMID:1985954|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23616187|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24698406|PMID:24728327|PMID:24905847|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25411618|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26552609|PMID:26817999|PMID:26853433|PMID:26981542|PMID:26997508|PMID:27035118|PMID:27083284|PMID:27130141|PMID:27148439|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27486234|PMID:27634015|PMID:27659712|PMID:27899486|PMID:27913849|PMID:27967291|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28324025|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30121369|PMID:30155490|PMID:30191644|PMID:30202817|PMID:30229274|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30507613|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31216263|PMID:31264968|PMID:31333579|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31419515|PMID:31483937|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32041611|PMID:32238361|PMID:32355288|PMID:32375679|PMID:32395877|PMID:32418360|PMID:32581083|PMID:32684311|PMID:32741144|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33216280|PMID:33242514|PMID:33245425|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34035238|PMID:34108472|PMID:34161864|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34556497|PMID:34668636 9045826 Hnf1a HNF1 homeobox A gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:737153 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:34741762|PMID:34803393|PMID:35081418|PMID:35089870|PMID:35328643|PMID:35673428|PMID:35846334|PMID:36208030|PMID:36257325|PMID:36361808|PMID:36613572|PMID:37396188|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9536098|PMID:9604876|PMID:9626139|PMID:9727913|PMID:9754819|PMID:9867222 9045826 Hnf1a HNF1 homeobox A gene DOID:0050788 proximal symphalangism ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger PMID:11938027|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25887915|PMID:28492532|PMID:29334895 9045826 Hnf1a HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma exacerbates ISO RGD:737153 D RGD:9068941 20211210 RGD DNA:mutation: (human) PMID:17663417|REF_RGD_ID:150530291 9045826 Hnf1a HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:11397 D RGD:9068941 20200609 RGD DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human) PMID:14598263|REF_RGD_ID:14700774 9045826 Hnf1a HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:11397 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple PMID:12355088|REF_RGD_ID:14700683 9045826 Hnf1a HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:3828 D RGD:9068941 20200609 RGD DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human) PMID:14598263|REF_RGD_ID:14700774 9045826 Hnf1a HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:3828 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple PMID:12355088|REF_RGD_ID:14700683 9045826 Hnf1a HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human) PMID:14598263|REF_RGD_ID:14700774 9045826 Hnf1a HNF1 homeobox A gene DOID:0050868 hepatocellular adenoma susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity, mutations:multiple PMID:12355088|REF_RGD_ID:14700683 9045826 Hnf1a HNF1 homeobox A gene DOID:0110757 type 1 diabetes mellitus 20 ISO RGD:737153 D RGD:7240710 20180130 OMIM 9045826 Hnf1a HNF1 homeobox A gene DOID:0110757 type 1 diabetes mellitus 20 ISO RGD:737153 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 1 diabetes mellitus 20 PMID:10333057|PMID:10447526|PMID:10585442|PMID:10754480|PMID:11058894|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11942313|PMID:12050210|PMID:12355088|PMID:12453420|PMID:12453976|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:14747304|PMID:15114102|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15883474|PMID:15928245|PMID:16917892|PMID:16930618|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:19150152|PMID:21051477|PMID:21224407|PMID:21236713|PMID:21395678|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21823540|PMID:22808921|PMID:23348805|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23674172|PMID:23803251|PMID:24069322|PMID:25174781|PMID:25555642|PMID:25741868|PMID:25935773|PMID:26110317|PMID:26431509|PMID:26467025|PMID:26479152|PMID:28012402|PMID:28170077|PMID:28410371|PMID:28492532|PMID:28862987|PMID:29207974|PMID:29417725|PMID:29439679|PMID:30293189|PMID:30814848|PMID:31166087|PMID:31483937|PMID:31517624|PMID:32238361|PMID:32395877|PMID:32741144|PMID:32910913|PMID:33242514|PMID:33245425|PMID:34373539|PMID:34496959|PMID:34556497|PMID:35328643|PMID:35673428|PMID:36208030|PMID:36257325|PMID:36613572|PMID:37396188|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9439666 9045826 Hnf1a HNF1 homeobox A gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:737153 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10333057|PMID:10588527|PMID:10634407|PMID:10852449|PMID:11058894|PMID:12574234|PMID:12627330|PMID:12675668|PMID:12788852|PMID:15031772|PMID:15657605|PMID:15761192|PMID:15883474|PMID:15928245|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17062882|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18811724|PMID:19754856|PMID:20031592|PMID:20393147|PMID:20690076|PMID:20705777|PMID:21170474|PMID:21761282|PMID:23139355|PMID:23348805|PMID:23607861|PMID:24033266|PMID:24097065|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:26981542|PMID:27035118|PMID:27130141|PMID:27458973|PMID:27899486|PMID:28105082|PMID:28492532|PMID:29207974|PMID:29376044|PMID:29758564|PMID:29844095|PMID:29895593|PMID:30155490|PMID:30202817|PMID:31109344|PMID:31264968|PMID:31385057|PMID:31485449|PMID:31566143|PMID:31673528|PMID:31844173|PMID:31968565|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33363396|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053|PMID:9604876 9045826 Hnf1a HNF1 homeobox A gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:737153 D RGD:7240710 20180130 OMIM 9045826 Hnf1a HNF1 homeobox A gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:737153 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:10027593|PMID:10027594|PMID:10078571|PMID:10333057|PMID:10447526|PMID:10482964|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10649494|PMID:10754480|PMID:10852449|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11692182|PMID:11938027|PMID:11942313|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12378390|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12488962|PMID:12530534|PMID:12547858|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:12788852|PMID:12832318|PMID:14598263|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15387959|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16602010|PMID:16834925|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17576681|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18221440|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19339519|PMID:19672314|PMID:19754856|PMID:19929997|PMID:20031592|PMID:20132997|PMID:20210571|PMID:20393147|PMID:20690076|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21236713|PMID:21395678|PMID:21518407|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22432796|PMID:22802087|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:23869231|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25174781|PMID:25306193|PMID:25411618|PMID:25414397|PMID:25483937|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26467025|PMID:26479152|PMID:26552609|PMID:26817999|PMID:26853433|PMID:26981542|PMID:26997508|PMID:27035118|PMID:27083284|PMID:27130141|PMID:27148439|PMID:27271189|PMID:27458973|PMID:27486234|PMID:27659712|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28324025|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29179779|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30155490|PMID:30181854|PMID:30191644|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31264968|PMID:31333579|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31419515|PMID:31483937|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31673528|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32017842|PMID:32041611|PMID:32238361|PMID:32355288|PMID:32375679|PMID:32395877|PMID:32418360|PMID:32581083|PMID:32741144|PMID:32910913|PMID:32928877|PMID:33046911|PMID:33216280|PMID:33242514|PMID:33245425|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34108472|PMID:34161864|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34556497|PMID:34668636|PMID:34741762|PMID:34803393|PMID:35081418|PMID:35089870|PMID:35299962|PMID:35328643|PMID:35535697|PMID:35673428|PMID:35846334|PMID:36208030|PMID:36257325|PMID:36613572 9045826 Hnf1a HNF1 homeobox A gene DOID:0111102 maturity-onset diabetes of the young type 3 ISO RGD:737153 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 PMID:37396188|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9536098|PMID:9562352|PMID:9604876|PMID:9626139|PMID:9727913|PMID:9754819 9045826 Hnf1a HNF1 homeobox A gene DOID:0111366 familial hepatic adenoma ISO RGD:737153 D RGD:7240710 20180130 OMIM 9045826 Hnf1a HNF1 homeobox A gene DOID:0111366 familial hepatic adenoma ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hepatic adenomas, familial PMID:10333057|PMID:10447526|PMID:10754480|PMID:11058894|PMID:11315851|PMID:12050210|PMID:12355088|PMID:12530534|PMID:12574234|PMID:12618559|PMID:14747304|PMID:15649945|PMID:15928245|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:21051477|PMID:21628466|PMID:23348805|PMID:23551881|PMID:23607861|PMID:25174781|PMID:25555642|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28862987|PMID:29417725|PMID:30814848|PMID:32741144|PMID:34373539|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9439666 9045826 Hnf1a HNF1 homeobox A gene DOID:10591 pre-eclampsia susceptibility ISO RGD:737153 D RGD:9068941 20230629 RGD associated with gestational diabetes;DNA:SNP:cd: p.I27L (rs1169288) (human) PMID:31825269|REF_RGD_ID:329901812 9045826 Hnf1a HNF1 homeobox A gene DOID:10603 glucose intolerance susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A98V PMID:15277395|REF_RGD_ID:1601481 9045826 Hnf1a HNF1 homeobox A gene DOID:11198 DiGeorge syndrome ISO RGD:737153 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: DiGeorge syndrome PMID:10333057|PMID:10447526|PMID:10754480|PMID:11058894|PMID:11315851|PMID:12050210|PMID:12355088|PMID:12530534|PMID:12574234|PMID:12618559|PMID:14747304|PMID:15649945|PMID:15928245|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:21051477|PMID:21628466|PMID:23348805|PMID:23551881|PMID:23607861|PMID:25174781|PMID:25555642|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28862987|PMID:29417725|PMID:30814848|PMID:32741144|PMID:34373539|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9439666 9045826 Hnf1a HNF1 homeobox A gene DOID:11714 gestational diabetes ISO RGD:737153 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gestational diabetes PMID:35299962|PMID:9562352 9045826 Hnf1a HNF1 homeobox A gene DOID:13619 extrahepatic cholestasis ISO RGD:3828 D RGD:9068941 20200609 RGD mRNA,protein,DNA:decreased expression, decreased binding, decreased expression:liver, nuclear (rat) PMID:15723437|REF_RGD_ID:14700989 9045826 Hnf1a HNF1 homeobox A gene DOID:2394 ovarian cancer ISO RGD:737153 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:10333057|PMID:10588527|PMID:10634407|PMID:11289470|PMID:12359128|PMID:12574234|PMID:12618559|PMID:12675668|PMID:15277395|PMID:15761192|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17116178|PMID:17192490|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:18332101|PMID:18414213|PMID:18513305|PMID:23348805|PMID:24728327|PMID:25575005|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29895593|PMID:31109344|PMID:32238361|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053 9045826 Hnf1a HNF1 homeobox A gene DOID:3393 coronary artery disease susceptibility ISO RGD:737153 D RGD:9068941 20230629 RGD DNA:SNP,haplotypes:intron: (rs55783344) C>T(human) PMID:33004870|REF_RGD_ID:329901841 9045826 Hnf1a HNF1 homeobox A gene DOID:3393 coronary artery disease susceptibility ISO RGD:737153 D RGD:9068941 20230629 RGD DNA:SNP:intron 1: (rs7310409) G>A (human) PMID:25202455|REF_RGD_ID:329901832 9045826 Hnf1a HNF1 homeobox A gene DOID:3393 coronary artery disease susceptibility ISO RGD:737153 D RGD:9068941 20230629 RGD DNA:SNPs,haplotypes:multiple PMID:28035729|REF_RGD_ID:329901837 9045826 Hnf1a HNF1 homeobox A gene DOID:3459 breast carcinoma ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:11938027|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25887915|PMID:28492532|PMID:29334895 9045826 Hnf1a HNF1 homeobox A gene DOID:3526 cerebral infarction susceptibility ISO RGD:737153 D RGD:9068941 20230629 RGD DNA:SNPs,haplotypes:multiple PMID:28035729|REF_RGD_ID:329901837 9045826 Hnf1a HNF1 homeobox A gene DOID:4195 hyperglycemia ISO RGD:737153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29753610 9045826 Hnf1a HNF1 homeobox A gene DOID:4450 renal cell carcinoma ISO RGD:737153 D RGD:7240710 20180130 OMIM 9045826 Hnf1a HNF1 homeobox A gene DOID:4467 clear cell renal cell carcinoma ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10333057|PMID:10447526|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11315851|PMID:11393552|PMID:12050210|PMID:12355088|PMID:12530534|PMID:12574234|PMID:12618559|PMID:14747304|PMID:15649945|PMID:15928245|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:19169489|PMID:19929997|PMID:21051477|PMID:21628466|PMID:21696527|PMID:22348187|PMID:22432108|PMID:23348805|PMID:23551881|PMID:23607861|PMID:24097065|PMID:25174781|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:27148439|PMID:28395978|PMID:28492532|PMID:28862987|PMID:29417725|PMID:30814848|PMID:31365591|PMID:31576961|PMID:31638168|PMID:32741144|PMID:34373539|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9166684|PMID:9313763|PMID:9392505|PMID:9439666|PMID:9754819 9045826 Hnf1a HNF1 homeobox A gene DOID:4471 chromophobe renal cell carcinoma ISO RGD:737153 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromophobe renal cell carcinoma PMID:10966642|PMID:11393552|PMID:15649945|PMID:17573900|PMID:19169489|PMID:19929997|PMID:21696527|PMID:22348187|PMID:22432108|PMID:24097065|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:27148439|PMID:28395978|PMID:28492532|PMID:31365591|PMID:31576961|PMID:31638168|PMID:9392505|PMID:9754819 9045826 Hnf1a HNF1 homeobox A gene DOID:5524 adenoid squamous cell carcinoma ISO RGD:11397 D RGD:9068941 20211231 RGD PMID:10489374|REF_RGD_ID:150540314 9045826 Hnf1a HNF1 homeobox A gene DOID:557 kidney disease ISO RGD:3828 D RGD:9068941 20200609 RGD associated with Hypertension PMID:18443232|REF_RGD_ID:2301829 9045826 Hnf1a HNF1 homeobox A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:11397 D RGD:9068941 20200609 RGD human cell line in mouse model PMID:29466992|REF_RGD_ID:14700664 9045826 Hnf1a HNF1 homeobox A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:3828 D RGD:9068941 20200609 RGD human cell line in mouse model PMID:29466992|REF_RGD_ID:14700664 9045826 Hnf1a HNF1 homeobox A gene DOID:684 hepatocellular carcinoma treatment ISO RGD:737153 D RGD:9068941 20200609 RGD human cell line in mouse model PMID:29466992|REF_RGD_ID:14700664 9045826 Hnf1a HNF1 homeobox A gene DOID:9000149 Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive ISO RGD:737153 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive PMID:30561130 9045826 Hnf1a HNF1 homeobox A gene DOID:9000528 Coronary Disease ISO RGD:737153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28869590 9045826 Hnf1a HNF1 homeobox A gene DOID:9002605 Delayed Hypersensitivity ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity PMID:11938027|PMID:24033266|PMID:24728327|PMID:25741868|PMID:25887915|PMID:28492532|PMID:29334895 9045826 Hnf1a HNF1 homeobox A gene DOID:9005369 Hepatomegaly ISO RGD:11397 D RGD:9068941 20200609 RGD PMID:28394260|REF_RGD_ID:14700773 9045826 Hnf1a HNF1 homeobox A gene DOID:9005369 Hepatomegaly ISO RGD:3828 D RGD:9068941 20200609 RGD PMID:28394260|REF_RGD_ID:14700773 9045826 Hnf1a HNF1 homeobox A gene DOID:9005369 Hepatomegaly ISO RGD:737153 D RGD:9068941 20200609 RGD PMID:28394260|REF_RGD_ID:14700773 9045826 Hnf1a HNF1 homeobox A gene DOID:9007571 Hyperlipoproteinemias susceptibility ISO RGD:737153 D RGD:9068941 20230629 RGD DNA:polymorphism:cd: p.I27L (human) PMID:12788852|REF_RGD_ID:329901805 9045826 Hnf1a HNF1 homeobox A gene DOID:9007692 Insulin Resistance ISO RGD:737153 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF PMID:10333057|PMID:10588527|PMID:10634407|PMID:10852449|PMID:12627330|PMID:12675668|PMID:12788852|PMID:15031772|PMID:15761192|PMID:15928245|PMID:16963153|PMID:17033837|PMID:17192490|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18332101|PMID:18498634|PMID:18811724|PMID:20031592|PMID:24728327|PMID:24933231|PMID:25741868|PMID:26467025|PMID:27130141|PMID:28492532|PMID:29895593|PMID:31109344|PMID:33363396|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9287053|PMID:9604876 9045826 Hnf1a HNF1 homeobox A gene DOID:9008691 Liver Injury susceptibility ISO RGD:11397 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:26857093|REF_RGD_ID:14700772 9045826 Hnf1a HNF1 homeobox A gene DOID:9008691 Liver Injury susceptibility ISO RGD:3828 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:26857093|REF_RGD_ID:14700772 9045826 Hnf1a HNF1 homeobox A gene DOID:9008691 Liver Injury susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD protein:decreased expression:liver (mouse) PMID:26857093|REF_RGD_ID:14700772 9045826 Hnf1a HNF1 homeobox A gene DOID:9256 colorectal cancer ISO RGD:737153 D RGD:9068941 20211231 RGD RNA:increased expression:colon (human) PMID:27433921|REF_RGD_ID:150540315 9045826 Hnf1a HNF1 homeobox A gene DOID:9256 colorectal cancer treatment ISO RGD:737153 D RGD:9068941 20211231 RGD DNA:SNPs:multiple (human) PMID:29066969|REF_RGD_ID:150540313 9045826 Hnf1a HNF1 homeobox A gene DOID:9281 phenylketonuria ISO RGD:11397 D RGD:9068941 20220825 MouseDO OMIM:261600 9045826 Hnf1a HNF1 homeobox A gene DOID:9351 diabetes mellitus ISO RGD:737153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10027594|PMID:10078571|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10482964|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11938027|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12488962|PMID:12530534|PMID:12547858|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17116178|PMID:17192490|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19339519|PMID:19754856|PMID:1985954|PMID:19929997|PMID:20132997|PMID:20393147|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21395678|PMID:21518407|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22432796|PMID:22802087|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24728327|PMID:24915262|PMID:25174781|PMID:25306193|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26817999|PMID:26853433|PMID:26997508|PMID:27083284|PMID:27148439|PMID:27229139|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27486234|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29179779|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29493090|PMID:29666556|PMID:29758564|PMID:29777474|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30121369|PMID:30155490|PMID:30181854|PMID:30191644|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30507613|PMID:30561130|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31483937|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31658956|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32041611|PMID:32238361|PMID:32395877|PMID:32684311|PMID:32741144|PMID:32910913|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34035238|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34741762|PMID:35328643|PMID:35673428|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9727913|PMID:9754819|PMID:9867222 9045826 Hnf1a HNF1 homeobox A gene DOID:9351 diabetes mellitus ISO RGD:737153 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diabetes | ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10027594|PMID:10078571|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10482964|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11938027|PMID:11942313|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12488962|PMID:12530534|PMID:12547858|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:14598263|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16602010|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17116178|PMID:17192490|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19339519|PMID:19754856|PMID:1985954|PMID:19929997|PMID:20132997|PMID:20393147|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21242637|PMID:21395678|PMID:21518407|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22432796|PMID:22802087|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24698406|PMID:24728327|PMID:24905847|PMID:24915262|PMID:25174781|PMID:25306193|PMID:25411618|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26817999|PMID:26853433|PMID:26997508|PMID:27080136|PMID:27083284|PMID:27148439|PMID:27229139|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27486234|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29179779|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29493090|PMID:29666556|PMID:29758564|PMID:29777474|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30121369|PMID:30155490|PMID:30181854|PMID:30191644|PMID:30202817|PMID:30229274|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30507613|PMID:30561130|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31419515|PMID:31483937|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31658956|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32041611|PMID:32238361|PMID:32395877|PMID:32684311|PMID:32741144|PMID:32910913|PMID:33046911|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34035238|PMID:34108472|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34741762|PMID:35218126|PMID:35328643|PMID:35673428|PMID:35846334|PMID:36208030|PMID:36257325|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9727913|PMID:9754819|PMID:9867222 9045826 Hnf1a HNF1 homeobox A gene DOID:9351 diabetes mellitus ISO RGD:737153 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes PMID:10027594|PMID:10078571|PMID:10102714|PMID:10333057|PMID:10447526|PMID:10482964|PMID:10585442|PMID:10588527|PMID:10634407|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11162430|PMID:11272211|PMID:11289470|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11463573|PMID:11668618|PMID:11692182|PMID:11719843|PMID:11938027|PMID:11942313|PMID:11978663|PMID:12050210|PMID:12107757|PMID:12355088|PMID:12359128|PMID:12442280|PMID:12453420|PMID:12453976|PMID:12488961|PMID:12488962|PMID:12530534|PMID:12547858|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12646418|PMID:12675668|PMID:14598263|PMID:14747304|PMID:15031772|PMID:15114102|PMID:15277395|PMID:15305805|PMID:15522234|PMID:15649945|PMID:15657605|PMID:15726414|PMID:15761192|PMID:15841481|PMID:15883474|PMID:15928245|PMID:16046319|PMID:16186275|PMID:16199547|PMID:16223942|PMID:16249556|PMID:16274290|PMID:16496320|PMID:16562587|PMID:16602010|PMID:16917892|PMID:16930618|PMID:16963153|PMID:17033837|PMID:17054605|PMID:17116178|PMID:17192490|PMID:17407387|PMID:17425917|PMID:17440016|PMID:17496355|PMID:17573900|PMID:17601994|PMID:17700391|PMID:17924661|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18513302|PMID:18513305|PMID:18672310|PMID:18811724|PMID:18838325|PMID:19150152|PMID:19169489|PMID:19336507|PMID:19339519|PMID:19754856|PMID:1985954|PMID:19929997|PMID:20132997|PMID:20393147|PMID:20705777|PMID:20981092|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21242637|PMID:21395678|PMID:21518407|PMID:21628466|PMID:21648289|PMID:21683639|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22060211|PMID:22341299|PMID:22348187|PMID:22413961|PMID:22432108|PMID:22432796|PMID:22802087|PMID:22808921|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23548576|PMID:23551881|PMID:23607861|PMID:23610083|PMID:23624530|PMID:23674172|PMID:23771925|PMID:23803251|PMID:24014008|PMID:24033266|PMID:24041679|PMID:24069322|PMID:24097065|PMID:24323243|PMID:24698406|PMID:24728327|PMID:24905847|PMID:24915262|PMID:25174781|PMID:25306193|PMID:25411618|PMID:25414397|PMID:25483937|PMID:25525159|PMID:25555642|PMID:25575005|PMID:25741868|PMID:25887915|PMID:25935773|PMID:26059258|PMID:26110317|PMID:26287533|PMID:26431509|PMID:26446475|PMID:26467025|PMID:26479152|PMID:26817999|PMID:26853433|PMID:26997508|PMID:27080136|PMID:27083284|PMID:27148439|PMID:27229139|PMID:27271189|PMID:27398945|PMID:27458973|PMID:27486234|PMID:27899486|PMID:27913849|PMID:28012402|PMID:28105082|PMID:28170077|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28597946|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29179779|PMID:29207974|PMID:29334895|PMID:29376044|PMID:29417725|PMID:29439679|PMID:29493090|PMID:29666556|PMID:29758564|PMID:29777474|PMID:29844095|PMID:29895593|PMID:29927023|PMID:30121369|PMID:30155490|PMID:30181854|PMID:30191644|PMID:30202817|PMID:30229274|PMID:30293189|PMID:30455330|PMID:30487145|PMID:30507613|PMID:30561130|PMID:30586318|PMID:30663027|PMID:30814848|PMID:31109344|PMID:31166087|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31385057|PMID:31419515|PMID:31483937|PMID:31485449|PMID:31517624|PMID:31566143|PMID:31576961|PMID:31604004|PMID:31638168|PMID:31658956|PMID:31675503|PMID:31754975|PMID:31844173|PMID:31968565|PMID:31968686|PMID:32041611|PMID:32238361|PMID:32355288|PMID:32395877|PMID:32684311|PMID:32741144|PMID:32910913|PMID:33046911|PMID:33216280|PMID:33242514|PMID:33245425|PMID:33363396|PMID:33459938|PMID:33477506|PMID:33538814|PMID:33651556|PMID:33889819|PMID:33950347|PMID:34035238|PMID:34108472|PMID:34161864|PMID:34373539|PMID:34440499|PMID:34458657|PMID:34462253|PMID:34496959|PMID:34556497|PMID:34741762|PMID:35089870|PMID:35328643|PMID:35673428|PMID:35846334|PMID:36208030|PMID:36257325|PMID:36613572|PMID:37396188|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9097962|PMID:9112026|PMID:9133564|PMID:9166684|PMID:9287053|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9727913|PMID:9754819|PMID:9867222 9045826 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737153 D RGD:7240710 20180130 OMIM 9045826 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737153 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084598|PMID:10333057|PMID:10588527|PMID:10634407|PMID:10843190|PMID:10852449|PMID:11058894|PMID:11904371|PMID:11942313|PMID:12355088|PMID:12359128|PMID:12574234|PMID:12627330|PMID:12675668|PMID:12788852|PMID:12832318|PMID:15031772|PMID:15657605|PMID:15761192|PMID:15883474|PMID:15928245|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17062882|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18811724|PMID:19672314|PMID:19754856|PMID:20031592|PMID:20393147|PMID:20690076|PMID:20705777|PMID:21170474|PMID:21761282|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23607861|PMID:24033266|PMID:24097065|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:26981542|PMID:27035118|PMID:27458973|PMID:27899486|PMID:28105082|PMID:28492532|PMID:29207974|PMID:29376044|PMID:29758564|PMID:29844095|PMID:30155490|PMID:30202817|PMID:31109344|PMID:31264968|PMID:31385057|PMID:31485449|PMID:31566143|PMID:31673528|PMID:31844173|PMID:31968565|PMID:32910913|PMID:32928877|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35218126|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053|PMID:9313764|PMID:9604876|PMID:9867222 9045826 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus ISO RGD:737153 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to | ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10084598|PMID:10333057|PMID:10588527|PMID:10634407|PMID:10843190|PMID:10852449|PMID:11058894|PMID:11904371|PMID:12574234|PMID:12627330|PMID:12675668|PMID:12788852|PMID:15031772|PMID:15657605|PMID:15761192|PMID:15883474|PMID:15928245|PMID:16186275|PMID:16241915|PMID:16917892|PMID:16963153|PMID:17033837|PMID:17062882|PMID:17116178|PMID:17192490|PMID:17220065|PMID:17407072|PMID:17425917|PMID:17440016|PMID:17573900|PMID:17937063|PMID:18003757|PMID:18332101|PMID:18414213|PMID:18439552|PMID:18498634|PMID:18586913|PMID:18811724|PMID:19672314|PMID:19754856|PMID:20031592|PMID:20690076|PMID:20705777|PMID:21170474|PMID:21761282|PMID:23139355|PMID:23348805|PMID:23607861|PMID:24097065|PMID:24728327|PMID:24915262|PMID:24933231|PMID:25057215|PMID:25555642|PMID:25741868|PMID:26059258|PMID:26431509|PMID:26467025|PMID:26981542|PMID:27035118|PMID:27130141|PMID:27458973|PMID:27899486|PMID:28105082|PMID:28492532|PMID:29207974|PMID:29376044|PMID:29758564|PMID:29844095|PMID:29895593|PMID:30155490|PMID:30202817|PMID:31109344|PMID:31264968|PMID:31385057|PMID:31485449|PMID:31566143|PMID:31673528|PMID:31844173|PMID:31968565|PMID:32041611|PMID:32910913|PMID:32928877|PMID:33363396|PMID:33477506|PMID:33651556|PMID:34668636|PMID:34803393|PMID:35299962|PMID:35328643|PMID:8945470|PMID:9112026|PMID:9133564|PMID:9287053|PMID:9604876 9045826 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:nonsense mutations, missense mutations: :multiple PMID:18003757|REF_RGD_ID:2301827 9045826 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:737153 D RGD:9068941 20230629 RGD DNA:SNP:cds: p.G319S (human) PMID:27087001|REF_RGD_ID:329901816 9045826 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD DNA:SNP::rs1169288 associated with future risk of developing T2DM (p=0.0002) in individuals from the Botnia study in Finland and the Malmo project in Sweden PMID:18332101|REF_RGD_ID:2301863 9045826 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737153 D RGD:9068941 20200609 RGD Maturity-onset diabetes of the young type III, OMIM:600496;DNA:insertions, deletions, point mutations: :multiple PMID:8945470|REF_RGD_ID:1601479 9045826 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737153 D RGD:9068941 20230629 RGD DNA:SNP:cds: p.G319S (human) PMID:20716378|REF_RGD_ID:329901814 9045826 Hnf1a HNF1 homeobox A gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737153 D RGD:9068941 20230629 RGD associated with nicotine dependence; DNA:SNP:cds: p.G319S (human) PMID:21208426|REF_RGD_ID:329901835 9045826 Hnf1a HNF1 homeobox A gene DOID:9744 type 1 diabetes mellitus ISO RGD:737153 D RGD:7240710 20180130 OMIM 9045826 Hnf1a HNF1 homeobox A gene DOID:9744 type 1 diabetes mellitus ISO RGD:737153 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Diabetes mellitus type 1 PMID:10078571|PMID:10333057|PMID:10447526|PMID:10585442|PMID:10588527|PMID:10690959|PMID:10754480|PMID:10966642|PMID:11058894|PMID:11296231|PMID:11315828|PMID:11315851|PMID:11393552|PMID:11692182|PMID:11719843|PMID:11938027|PMID:11942313|PMID:12050210|PMID:12355088|PMID:12359128|PMID:12453420|PMID:12488961|PMID:12530534|PMID:12574234|PMID:12618559|PMID:12627330|PMID:12832318|PMID:14598263|PMID:14747304|PMID:15649945|PMID:15657605|PMID:15883474|PMID:15928245|PMID:16274290|PMID:16562587|PMID:16602010|PMID:16917892|PMID:17054605|PMID:17407387|PMID:17440016|PMID:17573900|PMID:17937063|PMID:17989309|PMID:18003757|PMID:18672310|PMID:18838325|PMID:19169489|PMID:19754856|PMID:19929997|PMID:20393147|PMID:21051477|PMID:21168233|PMID:21170474|PMID:21224407|PMID:21628466|PMID:21696527|PMID:21761282|PMID:21823540|PMID:22348187|PMID:22432108|PMID:23139355|PMID:23274891|PMID:23348805|PMID:23517481|PMID:23551881|PMID:23607861|PMID:23771925|PMID:23869231|PMID:24033266|PMID:24097065|PMID:24728327|PMID:24915262|PMID:25174781|PMID:25411618|PMID:25414397|PMID:25483937|PMID:25555642|PMID:25741868|PMID:25887915|PMID:26059258|PMID:26431509|PMID:26467025|PMID:27083284|PMID:27148439|PMID:27271189|PMID:27899486|PMID:27913849|PMID:28395978|PMID:28410371|PMID:28492532|PMID:28701371|PMID:28862987|PMID:28938416|PMID:29207974|PMID:29334895|PMID:29417725|PMID:29439679|PMID:29666556|PMID:29758564|PMID:29927023|PMID:30155490|PMID:30202817|PMID:30293189|PMID:30455330|PMID:30814848|PMID:31264968|PMID:31363388|PMID:31365591|PMID:31419515|PMID:31485449|PMID:31517624|PMID:31576961|PMID:31638168|PMID:32041611|PMID:32238361|PMID:32395877|PMID:32418360|PMID:32741144|PMID:32910913|PMID:33046911|PMID:33477506|PMID:34108472|PMID:34161864|PMID:34373539|PMID:34496959|PMID:34741762|PMID:35328643|PMID:35673428|PMID:35846334|PMID:36208030|PMID:36257325|PMID:36613572|PMID:8866553|PMID:8945470|PMID:9032114|PMID:9045858|PMID:9075818|PMID:9075819|PMID:9112026|PMID:9166684|PMID:9313763|PMID:9313764|PMID:9392505|PMID:9439666|PMID:9604876|PMID:9727913|PMID:9754819 9045826 Hnf1a HNF1 homeobox A gene DOID:9993 hypoglycemia ISO RGD:737153 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15787664 9045847 Des desmin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:10717012|PMID:10905661|PMID:14991347|PMID:15050448|PMID:21262226|PMID:22153487|PMID:23425003|PMID:23575897|PMID:24033266|PMID:25179549|PMID:25741868|PMID:27532257|PMID:27854218|PMID:28492532|PMID:31718026|PMID:33023321 9045847 Des desmin gene DOID:0050700 cardiomyopathy ISO RGD:1347887 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10430757|PMID:10717012|PMID:10905661|PMID:14724127|PMID:14991347|PMID:15050448|PMID:15477095|PMID:15800015|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17576681|PMID:17626518|PMID:18414213|PMID:18653338|PMID:19181099|PMID:20448486|PMID:20474083|PMID:20981092|PMID:21262226|PMID:21842594|PMID:22153487|PMID:22215463|PMID:22337857|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23300193|PMID:23425003|PMID:23575897|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25214167|PMID:25394388|PMID:25557463|PMID:25617006|PMID:25736269|PMID:25741868|PMID:26265630|PMID:26431784|PMID:26467025|PMID:26724190|PMID:27393313|PMID:27532257|PMID:27697855|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28798025|PMID:29247119|PMID:29382405|PMID:29386531|PMID:29915097|PMID:29926427|PMID:30190612|PMID:30323756|PMID:30615648|PMID:30755392|PMID:30764827|PMID:30847666|PMID:31371504|PMID:31514951|PMID:31718026|PMID:31953240|PMID:31983221|PMID:32093415|PMID:32142595|PMID:32150461|PMID:32268277|PMID:32403337|PMID:32746448|PMID:32880476|PMID:33023321|PMID:33500567|PMID:33662488|PMID:34426522|PMID:35470680|PMID:9536098 9045847 Des desmin gene DOID:0060224 atrial fibrillation ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20137276 9045847 Des desmin gene DOID:0080000 muscular disease ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Skeletal muscle disease PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 9045847 Des desmin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347887 D RGD:7240710 20180130 OMIM 9045847 Des desmin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1347887 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar Annotator: match by term: Myofibrillar myopathy 1 PMID:10430757|PMID:10545598|PMID:10717012|PMID:10905661|PMID:10970245|PMID:11061256|PMID:11073539|PMID:11310634|PMID:11668632|PMID:11728149|PMID:12410397|PMID:12609507|PMID:12620971|PMID:12766977|PMID:14326018|PMID:14648196|PMID:14711882|PMID:14724127|PMID:14991347|PMID:15050448|PMID:15477095|PMID:15759133|PMID:15800015|PMID:16009553|PMID:16199547|PMID:16217025|PMID:16376610|PMID:16449718|PMID:16519886|PMID:16806931|PMID:16828798|PMID:16865695|PMID:16890305|PMID:17105773|PMID:17188893|PMID:17221859|PMID:17325244|PMID:17418574|PMID:17439987|PMID:17576681|PMID:17626518|PMID:17720647|PMID:18061454|PMID:18414213|PMID:18504128|PMID:18539904|PMID:18563598|PMID:18653338|PMID:18765652|PMID:19005210|PMID:19105189|PMID:19151983|PMID:19181099|PMID:19433360|PMID:19587455|PMID:19716701|PMID:19763525|PMID:19879535|PMID:20171226|PMID:20301672|PMID:20423733|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20718792|PMID:20829228|PMID:20981092|PMID:21135508|PMID:21262226|PMID:21520333|PMID:21676617|PMID:21842594|PMID:22106715|PMID:22153487|PMID:22215463|PMID:22275259|PMID:22337857|PMID:22395865|PMID:22403400|PMID:22484823|PMID:23032110|PMID:23051780|PMID:23143191|PMID:23155419|PMID:23168288|PMID:23299917|PMID:23300193|PMID:23349452|PMID:23396983|PMID:23425003|PMID:23575897|PMID:23639843|PMID:23687351|PMID:23785128|PMID:23806086|PMID:23815709|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24200904|PMID:24441330|PMID:24503780|PMID:25163546|PMID:25171807|PMID:25179549|PMID:25208129|PMID:25214167|PMID:25333361|PMID:25394388|PMID:25541946|PMID:25557463|PMID:25590979|PMID:25617006|PMID:25640679|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26097489|PMID:26265630|PMID:26272908|PMID:26342832|PMID:26431784|PMID:26467025|PMID:26633545|PMID:26676851|PMID:26724190|PMID:26789769|PMID:27085366|PMID:27393313|PMID:27532257|PMID:27561770|PMID:27618136|PMID:27697855|PMID:27733623|PMID:27810088|PMID:27854218|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28171858|PMID:28256728|PMID:28341588|PMID:28403181|PMID:28416588|PMID:28427417|PMID:28470624|PMID:28492532|PMID:28566242|PMID:28588093|PMID:28611029|PMID:28703267|PMID:28798025|PMID:29034897|PMID:29212896|PMID:29247119|PMID:29382405|PMID:29386531|PMID:29447731|PMID:29892087|PMID:29915097|PMID:29915714|PMID:29926427|PMID:29997562|PMID:30023281|PMID:30055862|PMID:30062237|PMID:30190612|PMID:30262925|PMID:30323756|PMID:30403391|PMID:30531895|PMID:30614851|PMID:30615648|PMID:30677492|PMID:30755392|PMID:30764827|PMID:30847666|PMID:30975432|PMID:31371504|PMID:31514951|PMID:31609036|PMID:31718026|PMID:31835587|PMID:31912959|PMID:31953240|PMID:31983221|PMID:31998224|PMID:32093415|PMID:32105824|PMID:32142595|PMID:32150461|PMID:32235386|PMID:32268277|PMID:32397162|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32880476|PMID:33023321|PMID:33290826|PMID:33373648|PMID:33500567|PMID:33505848|PMID:33546848|PMID:33652119|PMID:33662488|PMID:33673806|PMID:33825342|PMID:33874732|PMID:34011823|PMID:34315782|PMID:34426522|PMID:34495297|PMID:34935411|PMID:35470680|PMID:35626289|PMID:36497166|PMID:36555543|PMID:5828910|PMID:7672786|PMID:8114783|PMID:9382102|PMID:9536098|PMID:9697706|PMID:9736733 9045847 Des desmin gene DOID:0080307 myofibrillar myopathy ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant | ClinVar Annotator: match by term: Myofibrillar myopathy PMID:10905661|PMID:14711882|PMID:14724127|PMID:15477095|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17221859|PMID:17325244|PMID:17626518|PMID:18414213|PMID:20474083|PMID:20981092|PMID:21262226|PMID:21842594|PMID:22215463|PMID:22337857|PMID:23051780|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:25214167|PMID:25617006|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26467025|PMID:27618136|PMID:27697855|PMID:27896284|PMID:27930701|PMID:28416588|PMID:28492532|PMID:28798025|PMID:29892087|PMID:29926427|PMID:30190612|PMID:30847666|PMID:32142595|PMID:32150461|PMID:32880476|PMID:33652119 9045847 Des desmin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:17221859|PMID:18653338|PMID:19151983|PMID:20171226|PMID:20423733|PMID:20448486|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:24033266|PMID:25557463|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959 9045847 Des desmin gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 9045847 Des desmin gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 9045847 Des desmin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1347887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:17221859|PMID:18653338|PMID:19151983|PMID:20171226|PMID:20423733|PMID:20448486|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:24033266|PMID:25557463|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959 9045847 Des desmin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1347887 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28074886|PMID:28492532|PMID:30847666 9045847 Des desmin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1347887 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:25741868|PMID:28074886|PMID:28492532|PMID:30847666 9045847 Des desmin gene DOID:0110431 dilated cardiomyopathy 1I ISO RGD:1347887 D RGD:7240710 20180130 OMIM 9045847 Des desmin gene DOID:0110431 dilated cardiomyopathy 1I ISO RGD:1347887 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1I PMID:10430757|PMID:10717012|PMID:10905661|PMID:11310634|PMID:11728149|PMID:12609507|PMID:14724127|PMID:14991347|PMID:15477095|PMID:15800015|PMID:16199547|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17105773|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17576681|PMID:17626518|PMID:18414213|PMID:18539904|PMID:18653338|PMID:19105189|PMID:19181099|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20718792|PMID:20981092|PMID:21262226|PMID:21520333|PMID:21842594|PMID:22153487|PMID:22215463|PMID:22337857|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23396983|PMID:23575897|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24200904|PMID:24503780|PMID:25214167|PMID:25333361|PMID:25394388|PMID:25617006|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26265630|PMID:26272908|PMID:26431784|PMID:26467025|PMID:26724190|PMID:27393313|PMID:27532257|PMID:27697855|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28470624|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29247119|PMID:29382405|PMID:29386531|PMID:29447731|PMID:29915097|PMID:29926427|PMID:29997562|PMID:30190612|PMID:30403391|PMID:30531895|PMID:30615648|PMID:30677492|PMID:30755392|PMID:30764827|PMID:30847666|PMID:31019283|PMID:31514951|PMID:31953240|PMID:31983221|PMID:32093415|PMID:32142595|PMID:32150461|PMID:32235386|PMID:32268277|PMID:32397162|PMID:32403337|PMID:32528171|PMID:32880476|PMID:33500567|PMID:33652119|PMID:33662488|PMID:34011823|PMID:34426522|PMID:34495297|PMID:34935411|PMID:35626289|PMID:36497166|PMID:36555543|PMID:9536098|PMID:9697706 9045847 Des desmin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:19587455|PMID:19716701|PMID:20696008|PMID:22153487|PMID:23575897|PMID:23815709|PMID:24033266|PMID:24503780|PMID:25590979|PMID:28492532|PMID:33874732 9045847 Des desmin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1347887 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:29253866 9045847 Des desmin gene DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 PMID:28492532 9045847 Des desmin gene DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type ISO RGD:1347887 D RGD:7240710 20180130 OMIM 9045847 Des desmin gene DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type ISO RGD:1347887 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type | ClinVar Annotator: match by term: Scapuloperoneal syndrome, neurogenic type, of Kaeser PMID:10430757|PMID:10717012|PMID:10905661|PMID:11310634|PMID:11728149|PMID:12609507|PMID:14326018|PMID:14724127|PMID:14991347|PMID:15477095|PMID:15800015|PMID:16199547|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17105773|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17626518|PMID:18414213|PMID:18539904|PMID:18653338|PMID:19181099|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20718792|PMID:20981092|PMID:21262226|PMID:21520333|PMID:21842594|PMID:22153487|PMID:22215463|PMID:22337857|PMID:23143191|PMID:23168288|PMID:23299917|PMID:23396983|PMID:23575897|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25214167|PMID:25333361|PMID:25394388|PMID:25617006|PMID:25736269|PMID:25741868|PMID:25928149|PMID:26265630|PMID:26272908|PMID:26467025|PMID:26724190|PMID:27393313|PMID:27532257|PMID:27697855|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28171858|PMID:28341588|PMID:28416588|PMID:28470624|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29247119|PMID:29382405|PMID:29447731|PMID:29915097|PMID:29926427|PMID:29997562|PMID:30190612|PMID:30403391|PMID:30531895|PMID:30615648|PMID:30677492|PMID:30755392|PMID:30764827|PMID:30847666|PMID:31953240|PMID:32093415|PMID:32142595|PMID:32150461|PMID:32235386|PMID:32268277|PMID:32397162|PMID:32403337|PMID:32528171|PMID:32880476|PMID:33652119|PMID:34011823|PMID:34426522|PMID:34495297|PMID:34935411|PMID:35626289|PMID:36497166|PMID:5828910|PMID:9697706 9045847 Des desmin gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 9045847 Des desmin gene DOID:11372 megacolon ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9045847 Des desmin gene DOID:1148 polydactyly ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 9045847 Des desmin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23687351|PMID:30055862 9045847 Des desmin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1347887 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:32528171 9045847 Des desmin gene DOID:12120 pulmonary alveolar proteinosis ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 9045847 Des desmin gene DOID:12716 newborn respiratory distress syndrome ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neonatal respiratory distress PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 9045847 Des desmin gene DOID:12930 dilated cardiomyopathy ISO RGD:1347887 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:15800015|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17720647|PMID:18061454|PMID:18653338|PMID:19151983|PMID:19181099|PMID:19587455|PMID:19716701|PMID:19763525|PMID:19879535|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20981092|PMID:22106715|PMID:22153487|PMID:22215463|PMID:22275259|PMID:22337857|PMID:22403400|PMID:22484823|PMID:23143191|PMID:23155419|PMID:23299917|PMID:23349452|PMID:23815709|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25394388|PMID:25557463|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27393313|PMID:27532257|PMID:27810088|PMID:27854218|PMID:27896284|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29247119|PMID:29386531|PMID:29915714|PMID:29926427|PMID:30023281|PMID:30615648|PMID:31609036|PMID:31912959|PMID:32093415|PMID:32403337|PMID:34426522|PMID:9382102 9045847 Des desmin gene DOID:12930 dilated cardiomyopathy ISO RGD:1347887 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:15800015|PMID:17221859|PMID:17325244|PMID:17439987|PMID:17576681|PMID:17720647|PMID:18061454|PMID:18653338|PMID:19151983|PMID:19181099|PMID:19587455|PMID:19716701|PMID:19763525|PMID:19879535|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20474083|PMID:20696008|PMID:20981092|PMID:22106715|PMID:22153487|PMID:22215463|PMID:22275259|PMID:22337857|PMID:22403400|PMID:22484823|PMID:23143191|PMID:23155419|PMID:23299917|PMID:23349452|PMID:23575897|PMID:23815709|PMID:23861362|PMID:24033266|PMID:24088041|PMID:24503780|PMID:25394388|PMID:25557463|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26097489|PMID:26467025|PMID:26633545|PMID:27393313|PMID:27532257|PMID:27810088|PMID:27854218|PMID:27896284|PMID:28074886|PMID:28256728|PMID:28416588|PMID:28492532|PMID:28611029|PMID:29247119|PMID:29382405|PMID:29386531|PMID:29915097|PMID:29915714|PMID:29926427|PMID:30023281|PMID:30615648|PMID:30847666|PMID:31514951|PMID:31609036|PMID:31912959|PMID:31983221|PMID:32093415|PMID:32150461|PMID:32403337|PMID:33500567|PMID:33874732|PMID:34426522|PMID:9382102|PMID:9536098 9045847 Des desmin gene DOID:2527 nephrosis ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16418842 9045847 Des desmin gene DOID:2921 glomerulonephritis ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 9045847 Des desmin gene DOID:305 carcinoma ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9045847 Des desmin gene DOID:3082 interstitial lung disease ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Interstitial lung disease PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 9045847 Des desmin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:14724127|PMID:15477095|PMID:16217025|PMID:16519886|PMID:16828798|PMID:16865695|PMID:17325244|PMID:17626518|PMID:20474083|PMID:21842594|PMID:22215463|PMID:23143191|PMID:23168288|PMID:23806086|PMID:23861362|PMID:24033266|PMID:24088041|PMID:25214167|PMID:25736269|PMID:25741868|PMID:26467025|PMID:28492532 9045847 Des desmin gene DOID:397 restrictive cardiomyopathy ISO RGD:1347887 D RGD:9068941 20200609 RGD PMID:11298680|REF_RGD_ID:1580290 9045847 Des desmin gene DOID:423 myopathy ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myopathy PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 9045847 Des desmin gene DOID:440 neuromuscular disease ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:10717012|PMID:11073539|PMID:12620971|PMID:14724127|PMID:17221859|PMID:18653338|PMID:19151983|PMID:19587455|PMID:19716701|PMID:20171226|PMID:20423733|PMID:20448486|PMID:20696008|PMID:22106715|PMID:22153487|PMID:22403400|PMID:23349452|PMID:23575897|PMID:23815709|PMID:24033266|PMID:24503780|PMID:25557463|PMID:25590979|PMID:25741868|PMID:26467025|PMID:27810088|PMID:27854218|PMID:28256728|PMID:28492532|PMID:28611029|PMID:29915714|PMID:30023281|PMID:31912959|PMID:33874732 9045847 Des desmin gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 9045847 Des desmin gene DOID:630 genetic disease ISO RGD:1347887 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23575897|PMID:25741868|PMID:28492532|PMID:36555543 9045847 Des desmin gene DOID:9000217 Stomach Neoplasms ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19424620 9045847 Des desmin gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9045847 Des desmin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1347887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:27697855|PMID:27930701|PMID:28492532|PMID:28798025|PMID:29926427|PMID:30190612|PMID:30847666|PMID:32142595|PMID:32880476 9045847 Des desmin gene DOID:9002231 Fetal Growth Retardation ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28157488 9045847 Des desmin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9045847 Des desmin gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9045847 Des desmin gene DOID:9005603 Muscle Hypotonia ISO RGD:1347887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized hypotonia PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532 9045847 Des desmin gene DOID:9005603 Muscle Hypotonia ISO RGD:1347887 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neonatal hypotonia PMID:24033266|PMID:24503780|PMID:25741868|PMID:26265630|PMID:26724190|PMID:28341588|PMID:28492532|PMID:30755392|PMID:32268277|PMID:32403337 9045847 Des desmin gene DOID:9005605 Arteriovenous Fistula ISO RGD:620686 D RGD:9068941 20200609 RGD PMID:10591032|REF_RGD_ID:13525010 9045847 Des desmin gene DOID:9008939 Breast Neoplasms ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 9045847 Des desmin gene DOID:9279 hyperhomocysteinemia ISO RGD:1347887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20116427 9045847 Des desmin gene DOID:988 mitral valve prolapse ISO RGD:1347887 D RGD:9068941 20200609 RGD protein:altered expression:;eft ventricule PMID:27464577|REF_RGD_ID:13542088 9045864 Col14a1 collagen type XIV alpha 1 chain gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1314064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 9045864 Col14a1 collagen type XIV alpha 1 chain gene DOID:3748 esophagus squamous cell carcinoma disease_progression ISO RGD:1314064 D RGD:9068941 20220331 RGD DNA:hypermethylation PMID:25050929|REF_RGD_ID:151665741 9045864 Col14a1 collagen type XIV alpha 1 chain gene DOID:630 genetic disease ISO RGD:1314064 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045864 Col14a1 collagen type XIV alpha 1 chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1314064 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 9045916 Bcl7a BAF chromatin remodeling complex subunit BCL7A gene DOID:630 genetic disease ISO RGD:1319851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045929 Tent5a terminal nucleotidyltransferase 5A gene DOID:0111848 osteogenesis imperfecta type 18 ISO RGD:1604353 D RGD:7240710 20190315 OMIM 9045929 Tent5a terminal nucleotidyltransferase 5A gene DOID:0111848 osteogenesis imperfecta type 18 ISO RGD:1604353 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type 18 PMID:25741868|PMID:28492532|PMID:29358272 9045929 Tent5a terminal nucleotidyltransferase 5A gene DOID:10485 esophageal atresia ISO RGD:1604353 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 9045929 Tent5a terminal nucleotidyltransferase 5A gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1604353 D RGD:9068941 20200609 RGD DNA:repeats: : PMID:25884493|REF_RGD_ID:14390136 9045929 Tent5a terminal nucleotidyltransferase 5A gene DOID:630 genetic disease ISO RGD:1604353 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045929 Tent5a terminal nucleotidyltransferase 5A gene DOID:8398 osteoarthritis susceptibility ISO RGD:1604353 D RGD:9068941 20200609 RGD DNA:repeats: : PMID:25231575|REF_RGD_ID:14390133 9045940 Ilf3 interleukin enhancer binding factor 3 gene DOID:630 genetic disease ISO RGD:731671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050547 familial medullary thyroid carcinoma ISO RGD:734274 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary PMID:10330344|PMID:10443680|PMID:10861667|PMID:11139246|PMID:11159935|PMID:11719521|PMID:20301726|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32807182 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050548 hereditary sensory neuropathy ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy PMID:11668614 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0050848 obstructive sleep apnea ISO RGD:734274 D RGD:9068941 20200609 RGD PMID:17667845|REF_RGD_ID:5144120 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0060180 colitis ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:neuron PMID:20638179|REF_RGD_ID:5684542 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:734274 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Duncan disease PMID:25741868 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:734274 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked PMID:25741868 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:734274 D RGD:7240710 20180130 OMIM 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0070146 hereditary sensory neuropathy type 4 ISO RGD:734274 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II | ClinVar Annotator: match by term: HSAN 4 | ClinVar Annotator: match by term: HSAN Type IV | ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy 4 | ClinVar Annotator: match by term: Insensitivity to pain, congenital, with anhidrosis | ClinVar Annotator: match by term: Neuropathy, congenital sensory, with anhidrosis PMID:0233776|PMID:10090906|PMID:10233776|PMID:10330344|PMID:10443680|PMID:10861667|PMID:10982191|PMID:11071380|PMID:11139246|PMID:11159935|PMID:11310631|PMID:11668614|PMID:11719521|PMID:11748840|PMID:12210794|PMID:12406349|PMID:12949319|PMID:15534759|PMID:16199547|PMID:16373086|PMID:17576681|PMID:18056464|PMID:18162686|PMID:18179783|PMID:18322713|PMID:18955016|PMID:19250380|PMID:19598235|PMID:19618435|PMID:19651702|PMID:20003389|PMID:20301726|PMID:20647579|PMID:21708027|PMID:22032467|PMID:22302274|PMID:22397633|PMID:22653642|PMID:22957891|PMID:23112235|PMID:23241418|PMID:233776|PMID:23799134|PMID:24088041|PMID:24154508|PMID:24631696|PMID:25359976|PMID:25519000|PMID:25640679|PMID:25741868|PMID:25984678|PMID:26215504|PMID:26467025|PMID:26633545|PMID:26925801|PMID:27058611|PMID:27265460|PMID:27544236|PMID:27551041|PMID:27676246|PMID:27698470|PMID:27761255|PMID:28177573|PMID:28192073|PMID:28328124|PMID:28345382|PMID:28492532|PMID:28940190|PMID:28981924|PMID:29190530|PMID:29619836|PMID:29770739|PMID:30002500|PMID:30774415|PMID:31069529|PMID:31130284|PMID:32214227|PMID:32219930|PMID:32369273|PMID:32707200|PMID:32707409|PMID:32807182|PMID:32901917|PMID:33235206|PMID:33422294|PMID:33748046|PMID:34405299|PMID:3472625|PMID:37248554|PMID:77656|PMID:8696348|PMID:9536098 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0080600 COVID-19 ISO RGD:734274 D RGD:9068941 20200625 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:620144 D RGD:9068941 20240203 RGD PMID:20581854|REF_RGD_ID:401965387 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:734274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:10487 Hirschsprung's disease ISO RGD:734274 D RGD:9068941 20200609 RGD protein:altered expression:intestine PMID:8943115|REF_RGD_ID:5684546 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:1059 intellectual disability ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:10330344|PMID:10982191|PMID:11139246|PMID:11159935|PMID:11310631|PMID:11668614|PMID:11719521|PMID:12210794|PMID:12949319|PMID:15534759|PMID:16199547|PMID:16373086|PMID:18077166|PMID:18322713|PMID:18657423|PMID:21708027|PMID:22032467|PMID:22302274|PMID:22957891|PMID:23112235|PMID:24154508|PMID:24631696|PMID:25741868|PMID:27058611|PMID:27551041|PMID:27698470|PMID:28492532|PMID:32707409|PMID:77656 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10330344|PMID:10982191|PMID:11139246|PMID:11159935|PMID:11310631|PMID:11668614|PMID:11719521|PMID:12210794|PMID:12949319|PMID:15534759|PMID:16199547|PMID:16373086|PMID:18077166|PMID:18322713|PMID:18657423|PMID:21708027|PMID:22032467|PMID:22302274|PMID:22957891|PMID:23112235|PMID:24154508|PMID:24631696|PMID:25741868|PMID:27058611|PMID:27265460|PMID:27551041|PMID:27676246|PMID:27698470|PMID:28492532|PMID:28940190|PMID:28981924|PMID:29770739|PMID:32219930|PMID:32707409|PMID:3472625|PMID:77656 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:734274 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10330344|PMID:10982191|PMID:11139246|PMID:11159935|PMID:11310631|PMID:11668614|PMID:11719521|PMID:12210794|PMID:12949319|PMID:15534759|PMID:16199547|PMID:16373086|PMID:18077166|PMID:18322713|PMID:18657423|PMID:21708027|PMID:22032467|PMID:22302274|PMID:22957891|PMID:23112235|PMID:24154508|PMID:24631696|PMID:25741868|PMID:27058611|PMID:27265460|PMID:27551041|PMID:27676246|PMID:27698470|PMID:28492532|PMID:28940190|PMID:28981924|PMID:29770739|PMID:32219930|PMID:32707200|PMID:32707409|PMID:33235206|PMID:3472625|PMID:77656 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:10652 Alzheimer's disease ISO RGD:734274 D RGD:9068941 20200609 RGD early onset sporadic AD; DNA:SNP:CDS:rs6336 PMID:18780967|REF_RGD_ID:5508228 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:10652 Alzheimer's disease disease_progression ISO RGD:734274 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:21397006|REF_RGD_ID:5684531 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:12217 Lewy body dementia ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19276553 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:13406 pulmonary sarcoidosis ISO RGD:734274 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:16315781|REF_RGD_ID:4891110 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:1686 glaucoma ISO RGD:620144 D RGD:9068941 20200609 RGD PMID:20943663|REF_RGD_ID:5508695 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:1686 glaucoma ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:eye PMID:18817846|REF_RGD_ID:5684379 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:1793 pancreatic cancer severity ISO RGD:734274 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:associated with increased tumor aggressiveness PMID:16704535|REF_RGD_ID:5508229 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:2394 ovarian cancer ISO RGD:734274 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:2468 psychotic disorder ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:2841 asthma ISO RGD:1624082 D RGD:9068941 20200609 RGD PMID:20934630|REF_RGD_ID:5684766 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:2841 asthma ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA:increased expression:lung: PMID:16708804|REF_RGD_ID:5684772 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:289 endometriosis ISO RGD:1624082 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal ganglia, uterus PMID:21385399|REF_RGD_ID:5684532 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:3070 high grade glioma ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24705251 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734274 D RGD:9068941 20200609 RGD protein:increased expression:bronchiolar epithelial cell PMID:21429417|REF_RGD_ID:5684530 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:3310 atopic dermatitis ISO RGD:1624082 D RGD:9068941 20200609 RGD PMID:17223862|REF_RGD_ID:5684771 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:3310 atopic dermatitis ISO RGD:734274 D RGD:9068941 20200609 RGD protein:increased expression:eosinophil PMID:18647313|REF_RGD_ID:5144116 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:3312 bipolar disorder ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:431 myofascial pain syndrome ISO RGD:620144 D RGD:9068941 20200609 RGD PMID:21719352|REF_RGD_ID:5684340 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:4483 rhinitis ISO RGD:734274 D RGD:9068941 20200609 RGD protein:increased expression:eosinophil PMID:18647313|REF_RGD_ID:5144116 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:5327 retinal detachment ISO RGD:620144 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:18097183|REF_RGD_ID:5684405 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:5419 schizophrenia ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:5419 schizophrenia susceptibility ISO RGD:734274 D RGD:9068941 20200609 RGD DNA:SNPs:cds:rs6336, rs6339 PMID:21317683|REF_RGD_ID:5684534 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:5426 primary ovarian insufficiency ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868|PMID:28492532 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:5812 MHC class II deficiency ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:630 genetic disease ISO RGD:734274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10330344|PMID:10982191|PMID:11159935|PMID:11668614|PMID:11719521|PMID:11748840|PMID:12676795|PMID:12949319|PMID:16373086|PMID:18173729|PMID:19618435|PMID:19651702|PMID:23112235|PMID:23799134|PMID:25519000|PMID:25741868|PMID:26215504|PMID:26467025|PMID:27265460|PMID:27551041|PMID:27676246|PMID:28192073|PMID:28345382|PMID:28492532|PMID:29619836|PMID:29770739|PMID:30774415|PMID:32219930|PMID:32707409|PMID:32807182|PMID:35426680|PMID:8384556 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:769 neuroblastoma ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16989911 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:769 neuroblastoma disease_progression ISO RGD:734274 D RGD:9068941 20200609 RGD PMID:8433391|REF_RGD_ID:5684545 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:824 periodontitis ISO RGD:620144 D RGD:9068941 20200609 RGD protein:increased expression:neuron PMID:20200421|REF_RGD_ID:5684768 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA:decreased expression:spinal cord PMID:18585435|REF_RGD_ID:2308892 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9000310 Lung Injury ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20075049 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9000499 Alcoholic Intoxication ISO RGD:1624082 D RGD:9068941 20240203 RGD mRNA,protein:increased expression:cerebellum PMID:19861148|REF_RGD_ID:401965398 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9002211 Hyperalgesia ISO RGD:620144 D RGD:9068941 20200609 RGD PMID:17667845|PMID:20351485|REF_RGD_ID:5144120|REF_RGD_ID:5684352 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA:increased expression:brain subventricular zone: PMID:15589512|REF_RGD_ID:5684777 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:19633950|REF_RGD_ID:5684358 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9004354 Alcohol-Related Disorders ISO RGD:620144 D RGD:9068941 20240229 RGD protein:altered expression:brain PMID:15188276|REF_RGD_ID:401976554 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9004354 Alcohol-Related Disorders ISO RGD:620144 D RGD:9068941 20240229 RGD protein:decreased expression:brain PMID:15188277|REF_RGD_ID:401976555 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620144 D RGD:9068941 20200609 RGD PMID:22044876|REF_RGD_ID:5684337 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620144 D RGD:9068941 20200609 RGD protein:increased tyrosine nitration, decreased tyrosine phosphorylation:retina PMID:21136036|REF_RGD_ID:5144144 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005908 Retrograde Degeneration ISO RGD:620144 D RGD:9068941 20240309 RGD protein:decreased expression:forebrain PMID:29609077|REF_RGD_ID:402463965 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9005968 Neuralgia ISO RGD:734274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18400411 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9006101 Primary Ovarian Failure ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ovarian failure PMID:25741868|PMID:28492532 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9008091 Optic Nerve Injuries ISO RGD:620144 D RGD:9068941 20200609 RGD PMID:20943663|REF_RGD_ID:5508695 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9045991 Ntrk1 neurotrophic receptor tyrosine kinase 1 gene DOID:9743 diabetic neuropathy ISO RGD:620144 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:dorsal root ganglia PMID:12469361|REF_RGD_ID:5508379 9046018 Cct8l2 chaperonin containing TCP1 subunit 8 like 2 gene DOID:630 genetic disease ISO RGD:1605278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046018 Cct8l2 chaperonin containing TCP1 subunit 8 like 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605278 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9046024 Trim21 tripartite motif containing 21 gene DOID:0080773 delta beta-thalassemia ISO RGD:1345175 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9046024 Trim21 tripartite motif containing 21 gene DOID:630 genetic disease ISO RGD:1345175 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046039 Bmf Bcl2 modifying factor gene DOID:2717 Bloom syndrome ISO RGD:1342866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9046039 Bmf Bcl2 modifying factor gene DOID:630 genetic disease ISO RGD:1342866 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046039 Bmf Bcl2 modifying factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9046039 Bmf Bcl2 modifying factor gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1342866 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23770605 9046039 Bmf Bcl2 modifying factor gene DOID:9256 colorectal cancer ISO RGD:1342866 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9046051 Cnot10 CCR4-NOT transcription complex subunit 10 gene DOID:630 genetic disease ISO RGD:1343563 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046080 Med18 mediator complex subunit 18 gene DOID:630 genetic disease ISO RGD:1347067 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046093 Ep300 E1A binding protein p300 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348463 D RGD:9068941 20220121 RGD mRNA:increased expression:lung (human) PMID:30119248|REF_RGD_ID:151347411 9046093 Ep300 E1A binding protein p300 gene DOID:0050156 idiopathic pulmonary fibrosis treatment ISO RGD:620036 D RGD:9068941 20220121 RGD PMID:30119248|REF_RGD_ID:151347411 9046093 Ep300 E1A binding protein p300 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 9046093 Ep300 E1A binding protein p300 gene DOID:0050700 cardiomyopathy ISO RGD:1348463 D RGD:9068941 20200609 RGD protein:increased expression:heart left ventricle, nucleus (human) PMID:20375365|REF_RGD_ID:7364750 9046093 Ep300 E1A binding protein p300 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348463 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9046093 Ep300 E1A binding protein p300 gene DOID:0050834 CHARGE syndrome ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:29300383 9046093 Ep300 E1A binding protein p300 gene DOID:0050902 medulloblastoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:26619011 9046093 Ep300 E1A binding protein p300 gene DOID:0060319 cardiac arrest ISO RGD:1348463 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus; mRNA:increased expression:blood (human) PMID:19577077|REF_RGD_ID:2312286 9046093 Ep300 E1A binding protein p300 gene DOID:0080199 colorectal carcinoma ISO RGD:1348463 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Colorectal carcinoma PMID:15706485|PMID:24476420|PMID:25741868|PMID:28492532 9046093 Ep300 E1A binding protein p300 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 9046093 Ep300 E1A binding protein p300 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 9046093 Ep300 E1A binding protein p300 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 9046093 Ep300 E1A binding protein p300 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:28492532 9046093 Ep300 E1A binding protein p300 gene DOID:10283 prostate cancer disease_progression ISO RGD:1348463 D RGD:9068941 20200609 RGD PMID:14633682|REF_RGD_ID:2289907 9046093 Ep300 E1A binding protein p300 gene DOID:1059 intellectual disability ISO RGD:1348463 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:24728327|PMID:25741868|PMID:27465822|PMID:27648933|PMID:28492532|PMID:32827181|PMID:33644862 9046093 Ep300 E1A binding protein p300 gene DOID:10652 Alzheimer's disease ISO RGD:1348463 D RGD:9068941 20200609 RGD mRNA:increased expression:temporal cortex (human) PMID:23585551|REF_RGD_ID:7327146 9046093 Ep300 E1A binding protein p300 gene DOID:10763 hypertension ISO RGD:620036 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle (rat) PMID:18292809|REF_RGD_ID:2312265 9046093 Ep300 E1A binding protein p300 gene DOID:10907 microcephaly ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9046093 Ep300 E1A binding protein p300 gene DOID:11054 urinary bladder cancer ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822268 9046093 Ep300 E1A binding protein p300 gene DOID:1107 esophageal carcinoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of esophagus PMID:26619011 9046093 Ep300 E1A binding protein p300 gene DOID:114 heart disease ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Hypertension; protein:increased expression:heart (rat) PMID:18697823|REF_RGD_ID:2311717 9046093 Ep300 E1A binding protein p300 gene DOID:12858 Huntington's disease ISO RGD:1552027 D RGD:9068941 20200609 RGD PMID:12586550|REF_RGD_ID:13432192 9046093 Ep300 E1A binding protein p300 gene DOID:1441 autosomal dominant cerebellar ataxia ISO RGD:1348463 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:28492532|PMID:35401678 9046093 Ep300 E1A binding protein p300 gene DOID:1520 colon carcinoma ISO RGD:1348463 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10700188 9046093 Ep300 E1A binding protein p300 gene DOID:1574 alcohol use disorder ISO RGD:620036 D RGD:9068941 20231214 RGD mRNA, protein:decreased expression:amygdala PMID:29991681|REF_RGD_ID:401938626 9046093 Ep300 E1A binding protein p300 gene DOID:1749 squamous cell carcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 9046093 Ep300 E1A binding protein p300 gene DOID:1909 melanoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23698071 9046093 Ep300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:7240710 20180130 OMIM 9046093 Ep300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:10700188|PMID:15706485|PMID:16199547|PMID:17299436|PMID:18414213|PMID:18792986|PMID:19353645|PMID:20014264|PMID:20301699|PMID:21679367|PMID:24033266|PMID:24352918|PMID:24476420|PMID:24728327|PMID:25326635|PMID:25712426|PMID:25741868|PMID:26486927|PMID:27159028|PMID:27465822|PMID:27648933|PMID:28166811|PMID:28492532|PMID:29133209|PMID:29300383|PMID:29706646|PMID:30076641|PMID:32860008 9046093 Ep300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:10700188|PMID:15706485|PMID:17299436|PMID:18414213|PMID:18792986|PMID:19353645|PMID:20014264|PMID:20301699|PMID:21679367|PMID:24033266|PMID:24352918|PMID:24381114|PMID:24476420|PMID:24728327|PMID:25326635|PMID:25712426|PMID:25741868|PMID:27159028|PMID:27465822|PMID:27648933|PMID:28166811|PMID:28492532|PMID:28523540|PMID:29133209|PMID:29300383|PMID:29460469|PMID:29706646|PMID:30143558|PMID:32827181|PMID:32860008|PMID:33043588|PMID:33644862 9046093 Ep300 E1A binding protein p300 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1348463 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:10700188|PMID:15706485|PMID:16199547|PMID:17299436|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19353645|PMID:20014264|PMID:20301699|PMID:21679367|PMID:24033266|PMID:24352918|PMID:24381114|PMID:24476420|PMID:24728327|PMID:25326635|PMID:25712426|PMID:25741868|PMID:26374735|PMID:26486927|PMID:27159028|PMID:27465822|PMID:27648933|PMID:28492532|PMID:28523540|PMID:29133209|PMID:29300383|PMID:29460469|PMID:29706646|PMID:30076641|PMID:30143558|PMID:32827181|PMID:32860008|PMID:33043588|PMID:33644862|PMID:35401678|PMID:9536098 9046093 Ep300 E1A binding protein p300 gene DOID:224 transient cerebral ischemia ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebrum, ipsilateral side (rat) PMID:22196858|REF_RGD_ID:7349341 9046093 Ep300 E1A binding protein p300 gene DOID:2671 transitional cell carcinoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:26619011 9046093 Ep300 E1A binding protein p300 gene DOID:2920 membranoproliferative glomerulonephritis treatment ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:24344329|REF_RGD_ID:9588308 9046093 Ep300 E1A binding protein p300 gene DOID:2921 glomerulonephritis ISO RGD:1348463 D RGD:9068941 20200609 RGD protein:increased expression:glomerulus, renal tubule (human) PMID:17125594|REF_RGD_ID:7327154 9046093 Ep300 E1A binding protein p300 gene DOID:3459 breast carcinoma ISO RGD:1348463 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:12725419|REF_RGD_ID:2289908 9046093 Ep300 E1A binding protein p300 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17965222|PMID:25151357 9046093 Ep300 E1A binding protein p300 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:24488106|REF_RGD_ID:9588310 9046093 Ep300 E1A binding protein p300 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:26619011 9046093 Ep300 E1A binding protein p300 gene DOID:3910 lung adenocarcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27158780 9046093 Ep300 E1A binding protein p300 gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1348463 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:28551630|REF_RGD_ID:15036804 9046093 Ep300 E1A binding protein p300 gene DOID:4467 clear cell renal cell carcinoma severity ISO RGD:1348463 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney, tumor (human) PMID:23029358|REF_RGD_ID:7296925 9046093 Ep300 E1A binding protein p300 gene DOID:5409 lung small cell carcinoma ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22941188 9046093 Ep300 E1A binding protein p300 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck PMID:26619011 9046093 Ep300 E1A binding protein p300 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9046093 Ep300 E1A binding protein p300 gene DOID:6000 congestive heart failure ISO RGD:1348463 D RGD:9068941 20200609 RGD PMID:12724418|REF_RGD_ID:2312280 9046093 Ep300 E1A binding protein p300 gene DOID:630 genetic disease ISO RGD:1348463 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11331617|PMID:17299436|PMID:18792986|PMID:21679367|PMID:24352918|PMID:24728327|PMID:25741868|PMID:27465822|PMID:27648933|PMID:27964710|PMID:28492532|PMID:29133209|PMID:35401678 9046093 Ep300 E1A binding protein p300 gene DOID:684 hepatocellular carcinoma ISO RGD:620036 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:17083329|REF_RGD_ID:2312274 9046093 Ep300 E1A binding protein p300 gene DOID:687 hepatoblastoma ISO RGD:1348463 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:28492532 9046093 Ep300 E1A binding protein p300 gene DOID:8947 diabetic retinopathy ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21885871|REF_RGD_ID:7349382 9046093 Ep300 E1A binding protein p300 gene DOID:9000493 Menke-Hennekam Syndrome 2 ISO RGD:1348463 D RGD:7240710 20190315 OMIM 9046093 Ep300 E1A binding protein p300 gene DOID:9000493 Menke-Hennekam Syndrome 2 ISO RGD:1348463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 2 PMID:18414213|PMID:24381114|PMID:24728327|PMID:25741868|PMID:27465822|PMID:28492532|PMID:29460469|PMID:30143558|PMID:32851286 9046093 Ep300 E1A binding protein p300 gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:25741868 9046093 Ep300 E1A binding protein p300 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1348463 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:28492532|PMID:35401678 9046093 Ep300 E1A binding protein p300 gene DOID:9002165 Diabetic Nephropathies ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat) PMID:19268536|REF_RGD_ID:2311716 9046093 Ep300 E1A binding protein p300 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19268536|REF_RGD_ID:2311716 9046093 Ep300 E1A binding protein p300 gene DOID:9002211 Hyperalgesia ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:25263804|REF_RGD_ID:9588307 9046093 Ep300 E1A binding protein p300 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm of uterine cervix PMID:26619011 9046093 Ep300 E1A binding protein p300 gene DOID:9003748 Thumb Deformity ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thumb deformity PMID:25741868 9046093 Ep300 E1A binding protein p300 gene DOID:9003936 Cardiomegaly ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:heart left ventricle (rat) PMID:23211718|REF_RGD_ID:7327187 9046093 Ep300 E1A binding protein p300 gene DOID:9004009 Reperfusion Injury ISO RGD:620036 D RGD:9068941 20200609 RGD retina; protein:altered localization:Hsp70, promoter (rat) PMID:22143029|REF_RGD_ID:5686888 9046093 Ep300 E1A binding protein p300 gene DOID:9004009 Reperfusion Injury treatment ISO RGD:620036 D RGD:9068941 20200609 RGD retina PMID:22143029|REF_RGD_ID:5686888 9046093 Ep300 E1A binding protein p300 gene DOID:9004226 Hittner Hirsch Kreh Syndrome ISO RGD:1348463 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:29300383 9046093 Ep300 E1A binding protein p300 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9046093 Ep300 E1A binding protein p300 gene DOID:9004484 Sepsis ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:muscle part of extensor digitorum longus (rat) PMID:20538901|REF_RGD_ID:7364733 9046093 Ep300 E1A binding protein p300 gene DOID:9004756 Brain Hypoxia ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus (rat) PMID:19103185|REF_RGD_ID:2311713 9046093 Ep300 E1A binding protein p300 gene DOID:9004974 Painful Neuropathy ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:increased expression:lumbar spinal cord (rat) PMID:23176208|REF_RGD_ID:7327202 9046093 Ep300 E1A binding protein p300 gene DOID:9004974 Painful Neuropathy treatment ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:23176208|REF_RGD_ID:7327202 9046093 Ep300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1552027 D RGD:9068941 20200609 RGD PMID:18351623|REF_RGD_ID:2312288 9046093 Ep300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:18413674|REF_RGD_ID:2312263 9046093 Ep300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:increased expression:heart (rat) PMID:18657544|REF_RGD_ID:2312287 9046093 Ep300 E1A binding protein p300 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:620036 D RGD:9068941 20200609 RGD PMID:22228707|REF_RGD_ID:7296926 9046093 Ep300 E1A binding protein p300 gene DOID:9005930 Endotoxemia ISO RGD:620036 D RGD:9068941 20200609 RGD associated with Kidney Reperfusion Injury; protein:altered localization:kidney (rat) PMID:23936185|REF_RGD_ID:7257563 9046093 Ep300 E1A binding protein p300 gene DOID:9005988 Multicystic Dysplastic Kidney ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multicystic dysplastic kidney PMID:25741868|PMID:28492532|PMID:30143558 9046093 Ep300 E1A binding protein p300 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:620036 D RGD:9068941 20200609 RGD protein:altered localization:kidney (rat) PMID:23936185|REF_RGD_ID:7257563 9046093 Ep300 E1A binding protein p300 gene DOID:9007159 Nervous System Lead Poisoning ISO RGD:620036 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:24291742|REF_RGD_ID:9588309 9046093 Ep300 E1A binding protein p300 gene DOID:9007653 Multiple Abnormalities ISO RGD:1348463 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies PMID:18792986|PMID:21679367|PMID:24352918|PMID:25741868|PMID:27465822|PMID:28492532|PMID:29133209 9046093 Ep300 E1A binding protein p300 gene DOID:9007661 Dwarfism ISO RGD:1348463 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868 9046093 Ep300 E1A binding protein p300 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23104009 9046093 Ep300 E1A binding protein p300 gene DOID:9008091 Optic Nerve Injuries ISO RGD:1348463 D RGD:9068941 20200609 RGD human gene in rat model PMID:21705428|REF_RGD_ID:7349392 9046093 Ep300 E1A binding protein p300 gene DOID:9008091 Optic Nerve Injuries ISO RGD:620036 D RGD:9068941 20200609 RGD protein:decreased expression:retinal ganglion cell layer (rat) PMID:21705428|REF_RGD_ID:7349392 9046093 Ep300 E1A binding protein p300 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1348463 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 9046093 Ep300 E1A binding protein p300 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26921506 9046093 Ep300 E1A binding protein p300 gene DOID:9008939 Breast Neoplasms ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26229107 9046093 Ep300 E1A binding protein p300 gene DOID:9074 systemic lupus erythematosus ISO RGD:1552027 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 9046093 Ep300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:7240710 20200226 OMIM 9046093 Ep300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:26486927|PMID:27648933|PMID:28166811|PMID:28492532|PMID:29133209 9046093 Ep300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:27648933|PMID:28492532|PMID:29133209 9046093 Ep300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:27648933|PMID:28492532|PMID:29133209|PMID:30143558 9046093 Ep300 E1A binding protein p300 gene DOID:9256 colorectal cancer ISO RGD:1348463 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:15706485|PMID:18414213|PMID:24476420|PMID:24728327|PMID:25741868|PMID:28492532|PMID:30143558 9046093 Ep300 E1A binding protein p300 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1552027 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:renal glomerulus (mouse) PMID:23737551|REF_RGD_ID:7257568 9046093 Ep300 E1A binding protein p300 gene DOID:9970 obesity ISO RGD:1348463 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26441656 9046128 Sesn1 sestrin 1 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1316757 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 9046128 Sesn1 sestrin 1 gene DOID:630 genetic disease ISO RGD:1316757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046153 Id4 inhibitor of DNA binding 4, HLH protein gene DOID:11476 osteoporosis ISO RGD:1550640 D RGD:9068941 20220825 MouseDO OMIM:166710 9046153 Id4 inhibitor of DNA binding 4, HLH protein gene DOID:13580 cholestasis ISO RGD:736051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27989131 9046153 Id4 inhibitor of DNA binding 4, HLH protein gene DOID:305 carcinoma ISO RGD:736051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 9046153 Id4 inhibitor of DNA binding 4, HLH protein gene DOID:630 genetic disease ISO RGD:736051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046153 Id4 inhibitor of DNA binding 4, HLH protein gene DOID:9000217 Stomach Neoplasms ISO RGD:736051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9046153 Id4 inhibitor of DNA binding 4, HLH protein gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:736051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 9046153 Id4 inhibitor of DNA binding 4, HLH protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9046153 Id4 inhibitor of DNA binding 4, HLH protein gene DOID:9004575 Neoplasm Invasiveness ISO RGD:736051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 9046153 Id4 inhibitor of DNA binding 4, HLH protein gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:736051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14633621 9046163 Sstr1 somatostatin receptor 1 gene DOID:169 neuroendocrine tumor ISO RGD:737191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 9046163 Sstr1 somatostatin receptor 1 gene DOID:1793 pancreatic cancer ISO RGD:737191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17625444 9046163 Sstr1 somatostatin receptor 1 gene DOID:1824 status epilepticus ISO RGD:737191 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18951627 9046163 Sstr1 somatostatin receptor 1 gene DOID:630 genetic disease ISO RGD:737191 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046163 Sstr1 somatostatin receptor 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:737191 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9046163 Sstr1 somatostatin receptor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3762 D RGD:9068941 20200609 RGD PMID:7956902|REF_RGD_ID:2325008 9046172 Syt6 synaptotagmin 6 gene DOID:0080690 RASopathy ISO RGD:737166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9046172 Syt6 synaptotagmin 6 gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:737166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 9046172 Syt6 synaptotagmin 6 gene DOID:3007 breast ductal carcinoma ISO RGD:737166 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 9046172 Syt6 synaptotagmin 6 gene DOID:630 genetic disease ISO RGD:737166 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046193 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9046193 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:10283 prostate cancer ISO RGD:1348696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9046193 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:14228 oligospermia ISO RGD:1348696 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34822792 9046193 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:630 genetic disease ISO RGD:1348696 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046193 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:9002321 Teratozoospermia ISO RGD:1348696 D RGD:9068941 20220512 CTD CTD Direct Evidence: therapeutic PMID:34822792 9046193 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348696 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9046193 Ythdc2 YTH N6-methyladenosine RNA binding protein C2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348696 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9046227 Mctp2 multiple C2 and transmembrane domain containing 2 gene DOID:630 genetic disease ISO RGD:1603987 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9046264 Atad5 ATPase family AAA domain containing 5 gene DOID:0111253 neurofibromatosis 1 ISO RGD:1605345 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 9046264 Atad5 ATPase family AAA domain containing 5 gene DOID:1115 sarcoma susceptibility ISO RGD:1557158 D RGD:9068941 20200609 RGD PMID:21901109|REF_RGD_ID:11552595 9046264 Atad5 ATPase family AAA domain containing 5 gene DOID:1969 cerebral palsy ISO RGD:1605345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 9046264 Atad5 ATPase family AAA domain containing 5 gene DOID:3192 neurilemmoma ISO RGD:1605345 D RGD:9068941 20200609 RGD mRNA:increased expression:neural tissue (human) PMID:20844836|REF_RGD_ID:11552594 9046264 Atad5 ATPase family AAA domain containing 5 gene DOID:4001 ovarian carcinoma ISO RGD:1605345 D RGD:9068941 20221215 CTD CTD Direct Evidence: marker/mechanism PMID:25581431 9046264 Atad5 ATPase family AAA domain containing 5 gene DOID:630 genetic disease ISO RGD:1605345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046264 Atad5 ATPase family AAA domain containing 5 gene DOID:9008086 Developmental Disabilities ISO RGD:1605345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22241097 9046264 Atad5 ATPase family AAA domain containing 5 gene DOID:9008582 Developmental Disease susceptibility ISO RGD:1557158 D RGD:9068941 20200609 RGD PMID:21901109|REF_RGD_ID:11552595 9046294 LOC102022141 histone H2A type 1-D gene DOID:1540 parathyroid carcinoma ISO RGD:1320935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9046294 LOC102022141 histone H2A type 1-D gene DOID:630 genetic disease ISO RGD:1320935 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046294 LOC102022141 histone H2A type 1-D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320935 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9046295 Pigx phosphatidylinositol glycan anchor biosynthesis class X gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1343989 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 9046295 Pigx phosphatidylinositol glycan anchor biosynthesis class X gene DOID:12849 autistic disorder ISO RGD:1343989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9046295 Pigx phosphatidylinositol glycan anchor biosynthesis class X gene DOID:5419 schizophrenia ISO RGD:1343989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9046295 Pigx phosphatidylinositol glycan anchor biosynthesis class X gene DOID:630 genetic disease ISO RGD:1343989 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046305 Map3k3 mitogen-activated protein kinase kinase kinase 3 gene DOID:470 verrucous keratotic hemangioma ISO RGD:1312092 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Verrucous venous malformation PMID:25741868 9046305 Map3k3 mitogen-activated protein kinase kinase kinase 3 gene DOID:630 genetic disease ISO RGD:1312092 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046305 Map3k3 mitogen-activated protein kinase kinase kinase 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:1312092 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17068819 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:21844117|REF_RGD_ID:6892918 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:0060189 ileitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:21945903|REF_RGD_ID:6892917 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:0060496 respiratory allergy ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20022477 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:0080600 COVID-19 ISO RGD:1345616 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20485159 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:20022477|REF_RGD_ID:4145619 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:10247 pleurisy ISO RGD:733966 D RGD:9068941 20200609 RGD associated with Mycobacterium Infections PMID:17158890|REF_RGD_ID:4145643 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:11204 allergic conjunctivitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:18658092|REF_RGD_ID:6893389 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:11382 corneal neovascularization ISO RGD:733966 D RGD:9068941 20200609 RGD mRNA:increased expression:cornea PMID:20610836|REF_RGD_ID:6892921 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:12716450|REF_RGD_ID:6893409 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:nasal cavity epithelium PMID:11529927|REF_RGD_ID:4145634 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:13922 eosinophilic esophagitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:1316818|REF_RGD_ID:6893390 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:1485 cystic fibrosis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:1555 urticaria ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:15721839|REF_RGD_ID:6893392 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:1824 status epilepticus ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19490431 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:2043 hepatitis B ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:19185001|REF_RGD_ID:6893388 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:2152 ovary epithelial cancer severity ISO RGD:1345616 D RGD:9068941 20200609 RGD DNA:silent mutation:cds: (rs4987053) (human) PMID:20103664|REF_RGD_ID:6893445 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:2377 multiple sclerosis ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:21427490|REF_RGD_ID:6892919 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:1345616 D RGD:9068941 20200609 RGD DNA:SNP:exon:51T>C (human) PMID:20220260|REF_RGD_ID:4145638 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:620593 D RGD:9068941 20200609 RGD PMID:16978084|REF_RGD_ID:4145646 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:17145927|PMID:18699933|PMID:19657453|PMID:20134116|REF_RGD_ID:1601020|REF_RGD_ID:4145618|REF_RGD_ID:4145623|REF_RGD_ID:4145633 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:733966 D RGD:9068941 20200619 RGD mRNA:altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:3042 allergic contact dermatitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:22075493|REF_RGD_ID:6892916 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:3310 atopic dermatitis ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:3310 atopic dermatitis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:skin PMID:16449815|REF_RGD_ID:6893391 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16314464 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:733966 D RGD:9068941 20200609 RGD associated with Lung Injury PMID:16314464|REF_RGD_ID:4145395 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:4483 rhinitis ISO RGD:1345616 D RGD:9068941 20200609 RGD DNA:SNP:exon:51T>C (human) PMID:17135764|REF_RGD_ID:4145111 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:4483 rhinitis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:17156343|REF_RGD_ID:4145645 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:4483 rhinitis ISO RGD:620593 D RGD:9068941 20200609 RGD mRNA:increased expression:nose PMID:20696593|REF_RGD_ID:4145454 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:4617 periapical granuloma ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:11683586|REF_RGD_ID:6893426 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345616 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10202824 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:733966 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19762220|REF_RGD_ID:4145622 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:5844 myocardial infarction ISO RGD:620593 D RGD:9068941 20200609 RGD PMID:18954648|REF_RGD_ID:4890013 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:630 genetic disease ISO RGD:1345616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, neutrophil PMID:19017998|REF_RGD_ID:4145632 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:19842835|REF_RGD_ID:4145620 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:8577 ulcerative colitis ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:21077277|REF_RGD_ID:6892920 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:19787232|REF_RGD_ID:6893387 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9001044 Choroidal Neovascularization ISO RGD:1345616 D RGD:9068941 20200609 RGD associated with Macular Degeneration PMID:19525930|REF_RGD_ID:6893454 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9001044 Choroidal Neovascularization ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:19525930|REF_RGD_ID:6893454 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9001371 Eosinophilia ISO RGD:1345616 D RGD:9068941 20200609 RGD associated with Asthma PMID:17983872|REF_RGD_ID:4145642 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:15034073|REF_RGD_ID:6893394 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1345616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9004001 Facial Nerve Injuries ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:19922414|REF_RGD_ID:6892922 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:21621198|REF_RGD_ID:6893427 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1345616 D RGD:9068941 20200609 RGD PMID:21180278|REF_RGD_ID:6893428 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9146 visceral leishmaniasis ISO RGD:1345616 D RGD:9068941 20200609 RGD protein:increased expression:blood, T cell PMID:15379987|REF_RGD_ID:6893393 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9471 meningitis ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:19887061|REF_RGD_ID:6892923 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9498 pulmonary eosinophilia ISO RGD:733966 D RGD:9068941 20200609 RGD PMID:20732990|REF_RGD_ID:4145617 9046343 Ccr3 C-C motif chemokine receptor 3 gene DOID:9970 obesity ISO RGD:1345616 D RGD:9068941 20200609 RGD mRNA:increased expression:adipose tissue PMID:18492752|REF_RGD_ID:6483834 9046352 Banp BTG3 associated nuclear protein gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1316673 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 9046352 Banp BTG3 associated nuclear protein gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1316673 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 9046352 Banp BTG3 associated nuclear protein gene DOID:14780 KBG syndrome ISO RGD:1316673 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 9046352 Banp BTG3 associated nuclear protein gene DOID:3070 high grade glioma ISO RGD:1316673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9046352 Banp BTG3 associated nuclear protein gene DOID:630 genetic disease ISO RGD:1316673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046352 Banp BTG3 associated nuclear protein gene DOID:9002957 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO ISO RGD:1316673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to PMID:24530203|PMID:26913920|PMID:28492532 9046352 Banp BTG3 associated nuclear protein gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1316673 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 9046382 Grk4 G protein-coupled receptor kinase 4 gene DOID:10825 essential hypertension susceptibility ISO RGD:1606583 D RGD:9068941 20200609 RGD DNA:SNP,haplotypes:cds: PMID:15097232|REF_RGD_ID:1598505 9046382 Grk4 G protein-coupled receptor kinase 4 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1606583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 9046382 Grk4 G protein-coupled receptor kinase 4 gene DOID:1856 cherubism ISO RGD:1606583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 9046382 Grk4 G protein-coupled receptor kinase 4 gene DOID:630 genetic disease ISO RGD:1606583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046382 Grk4 G protein-coupled receptor kinase 4 gene DOID:9002165 Diabetic Nephropathies ISO RGD:61858 D RGD:9068941 20200609 RGD protein:decreased expression:cortex of kidney (rat) PMID:23196710|REF_RGD_ID:13792785 9046382 Grk4 G protein-coupled receptor kinase 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1606583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 9046410 Ap1m1 adaptor related protein complex 1 subunit mu 1 gene DOID:630 genetic disease ISO RGD:1316969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046428 Trim28 tripartite motif containing 28 gene DOID:10283 prostate cancer ISO RGD:736265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9046428 Trim28 tripartite motif containing 28 gene DOID:1936 atherosclerosis ISO RGD:736265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31351049 9046428 Trim28 tripartite motif containing 28 gene DOID:2154 nephroblastoma ISO RGD:736265 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 PMID:25741868|PMID:28492532|PMID:32699065 9046428 Trim28 tripartite motif containing 28 gene DOID:630 genetic disease ISO RGD:736265 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9046428 Trim28 tripartite motif containing 28 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30510241 9046449 Ctbs chitobiase gene DOID:630 genetic disease ISO RGD:1351227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046460 Adipor1 adiponectin receptor 1 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1344545 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9046460 Adipor1 adiponectin receptor 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9046460 Adipor1 adiponectin receptor 1 gene DOID:1612 breast cancer ISO RGD:1344545 D RGD:9068941 20200609 RGD DNA:SNPs: :rs7539542 (human) PMID:18451143|REF_RGD_ID:8694415 9046460 Adipor1 adiponectin receptor 1 gene DOID:1612 breast cancer no_association ISO RGD:1344545 D RGD:9068941 20200609 RGD PMID:19723917|REF_RGD_ID:8694417 9046460 Adipor1 adiponectin receptor 1 gene DOID:2018 hyperinsulinism ISO RGD:1303151 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle cell PMID:16326833|REF_RGD_ID:1625765 9046460 Adipor1 adiponectin receptor 1 gene DOID:2526 prostate adenocarcinoma susceptibility ISO RGD:1344545 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype:intron, exon: (rs12733285, rs7539452) (human) PMID:21397927|REF_RGD_ID:8694410 9046460 Adipor1 adiponectin receptor 1 gene DOID:4195 hyperglycemia ISO RGD:1303151 D RGD:9068941 20200609 RGD mRNA:decreased expression:skeletal muscle cell PMID:16326833|REF_RGD_ID:1625765 9046460 Adipor1 adiponectin receptor 1 gene DOID:4448 macular degeneration ISO RGD:1344545 D RGD:9068941 20200609 RGD DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) PMID:22387454|REF_RGD_ID:8694465 9046460 Adipor1 adiponectin receptor 1 gene DOID:5844 myocardial infarction ISO RGD:1332010 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:heart left ventricle PMID:16415076|REF_RGD_ID:1625764 9046460 Adipor1 adiponectin receptor 1 gene DOID:630 genetic disease ISO RGD:1344545 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046460 Adipor1 adiponectin receptor 1 gene DOID:783 end stage renal disease ISO RGD:1303151 D RGD:9068941 20200609 RGD PMID:24028144|REF_RGD_ID:8695941 9046460 Adipor1 adiponectin receptor 1 gene DOID:783 end stage renal disease ISO RGD:1344545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19539174 9046460 Adipor1 adiponectin receptor 1 gene DOID:9002231 Fetal Growth Retardation treatment ISO RGD:1303151 D RGD:9068941 20200609 RGD PMID:23533720|REF_RGD_ID:8695947 9046460 Adipor1 adiponectin receptor 1 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1344545 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9046460 Adipor1 adiponectin receptor 1 gene DOID:9006945 Diabetic Cardiomyopathies ISO RGD:1303151 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type2;mRNA, protein:decreased expression:heart, serum PMID:24669271|REF_RGD_ID:8695938 9046460 Adipor1 adiponectin receptor 1 gene DOID:9007456 Female Infertility ISO RGD:1344545 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22265003 9046460 Adipor1 adiponectin receptor 1 gene DOID:9007692 Insulin Resistance resistance ISO RGD:1344545 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :-3881T>C PMID:17285539|REF_RGD_ID:1625762 9046460 Adipor1 adiponectin receptor 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344545 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9046460 Adipor1 adiponectin receptor 1 gene DOID:9970 obesity ISO RGD:1303151 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:16483885|REF_RGD_ID:1625763 9046460 Adipor1 adiponectin receptor 1 gene DOID:9970 obesity ISO RGD:1344545 D RGD:9068941 20200609 RGD mRNA:decreased expression:lymphocyte PMID:17391161|REF_RGD_ID:1625761 9046476 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:10283 prostate cancer ISO RGD:1354477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9046476 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:10652 Alzheimer's disease onset ISO RGD:1354477 D RGD:9068941 20200609 RGD DNA:deletion:intron PMID:11425005|REF_RGD_ID:1358749 9046476 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:10976 membranous glomerulonephritis ISO RGD:620700 D RGD:9068941 20200609 RGD PMID:7723231|REF_RGD_ID:1641936 9046476 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:10976 membranous glomerulonephritis ISO RGD:620700 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:glomerulus, epithelial cell PMID:7778686|REF_RGD_ID:1641937 9046476 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1354477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 9046476 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:1307 dementia susceptibility ISO RGD:1354477 D RGD:9068941 20200609 RGD DNA:insertion,deletion:intron: PMID:18721259|REF_RGD_ID:10412053 9046476 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1354477 D RGD:9068941 20200609 RGD PMID:12394648|REF_RGD_ID:1581922 9046476 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:630 genetic disease ISO RGD:1354477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046476 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:9001833 Myopia 23, Autosomal Recessive ISO RGD:1354477 D RGD:7240710 20180130 OMIM 9046476 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:9001833 Myopia 23, Autosomal Recessive ISO RGD:1354477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopia 23, autosomal recessive | ClinVar Annotator: match by term: Rare isolated myopia PMID:23830514|PMID:24033266|PMID:25525168|PMID:25741868|PMID:26271838 9046476 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:9004332 Osteoarthritis, Experimental ISO RGD:620700 D RGD:9068941 20200609 RGD mRNA:decreased expression:knee PMID:24754147|REF_RGD_ID:10412054 9046476 Lrpap1 LDL receptor related protein associated protein 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:1354477 D RGD:9068941 20200609 RGD associated with Coronary Disease;DNA:SNP:exon PMID:14557872|REF_RGD_ID:1581921 9046497 Ccdc120 coiled-coil domain containing 120 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:26173968 9046497 Ccdc120 coiled-coil domain containing 120 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9046497 Ccdc120 coiled-coil domain containing 120 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 9046497 Ccdc120 coiled-coil domain containing 120 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1606197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 9046497 Ccdc120 coiled-coil domain containing 120 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 9046497 Ccdc120 coiled-coil domain containing 120 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1606197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 9046497 Ccdc120 coiled-coil domain containing 120 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1606197 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 9046497 Ccdc120 coiled-coil domain containing 120 gene DOID:12849 autistic disorder ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9046497 Ccdc120 coiled-coil domain containing 120 gene DOID:630 genetic disease ISO RGD:1606197 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046497 Ccdc120 coiled-coil domain containing 120 gene DOID:9007661 Dwarfism ISO RGD:1606197 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 9046524 Fam163a family with sequence similarity 163 member A gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 9046524 Fam163a family with sequence similarity 163 member A gene DOID:1540 parathyroid carcinoma ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9046524 Fam163a family with sequence similarity 163 member A gene DOID:630 genetic disease ISO RGD:1605572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046524 Fam163a family with sequence similarity 163 member A gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 9046524 Fam163a family with sequence similarity 163 member A gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605572 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9046532 Kif11 kinesin family member 11 gene DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ISO RGD:1346274 D RGD:7240710 20180130 OMIM 9046532 Kif11 kinesin family member 11 gene DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ISO RGD:1346274 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation PMID:15930898|PMID:16199547|PMID:17576681|PMID:22284827|PMID:22653704|PMID:24281367|PMID:25115524|PMID:25124931|PMID:25741868|PMID:25934493|PMID:26472404|PMID:26566857|PMID:27212378|PMID:28492532|PMID:30452590|PMID:30792901|PMID:31077665|PMID:31130284|PMID:32214227|PMID:33137195|PMID:33619735|PMID:34128965|PMID:9536098 9046532 Kif11 kinesin family member 11 gene DOID:0070051 autosomal dominant intellectual developmental disorder 21 ISO RGD:1346274 D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome PMID:25741868 9046532 Kif11 kinesin family member 11 gene DOID:0080105 microcephaly and chorioretinopathy 1 ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 PMID:25741868 9046532 Kif11 kinesin family member 11 gene DOID:0080600 COVID-19 ISO RGD:1346274 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9046532 Kif11 kinesin family member 11 gene DOID:10584 retinitis pigmentosa ISO RGD:1346274 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa PMID:25741868|PMID:32214227|PMID:34906470 9046532 Kif11 kinesin family member 11 gene DOID:1059 intellectual disability ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9046532 Kif11 kinesin family member 11 gene DOID:10907 microcephaly ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9046532 Kif11 kinesin family member 11 gene DOID:1227 neutropenia ISO RGD:1346274 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:25741868|PMID:28492532 9046532 Kif11 kinesin family member 11 gene DOID:2843 long QT syndrome ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 9046532 Kif11 kinesin family member 11 gene DOID:630 genetic disease ISO RGD:1346274 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15930898|PMID:17576681|PMID:22284827|PMID:25741868|PMID:25934493|PMID:28492532|PMID:9536098 9046532 Kif11 kinesin family member 11 gene DOID:684 hepatocellular carcinoma ISO RGD:1346274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9046532 Kif11 kinesin family member 11 gene DOID:8501 fundus dystrophy ISO RGD:1346274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:30452590 9046532 Kif11 kinesin family member 11 gene DOID:9002170 Experimental Neoplasms ISO RGD:1346274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17974955 9046532 Kif11 kinesin family member 11 gene DOID:9003882 Chromosomal Instability ISO RGD:1346274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17974955 9046532 Kif11 kinesin family member 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346274 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9046532 Kif11 kinesin family member 11 gene DOID:9008582 Developmental Disease ISO RGD:1346274 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9046532 Kif11 kinesin family member 11 gene DOID:9008692 Aneuploidy ISO RGD:1346274 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17974955 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:12236 primary biliary cholangitis ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:161 keratosis ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:2237 hepatitis ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:224 transient cerebral ischemia ISO RGD:733529 D RGD:9068941 20200609 RGD protein:decreased expression:brain (mouse) PMID:21075092|REF_RGD_ID:6893270 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:2797 idiopathic interstitial pneumonia ISO RGD:1605110 D RGD:9068941 20200609 RGD protein:increased expression:hyperplastic lung epithelium, alveolus (human) PMID:20718723|REF_RGD_ID:6893300 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:3121 gallbladder cancer ISO RGD:1605110 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations:cds:multiple (human) PMID:18692501|REF_RGD_ID:6893398 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1605110 D RGD:9068941 20200609 RGD mRNA:increased expression:primary motor cortex (human) PMID:18957896|REF_RGD_ID:6893397 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22684020 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:4450 renal cell carcinoma ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23797736 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:5199 ureteral obstruction ISO RGD:621619 D RGD:9068941 20200609 RGD protein:altered expression:kidney cortex (rat) PMID:20734248|REF_RGD_ID:5133246 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1605110 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:630 genetic disease ISO RGD:1605110 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:77 gastrointestinal system disease ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20404090 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:783 end stage renal disease ISO RGD:621619 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex, cytosol (rat) PMID:20007347|REF_RGD_ID:6892947 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:8947 diabetic retinopathy ISO RGD:621619 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina PMID:23633659|REF_RGD_ID:10412733 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18692501 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9000918 Disease Progression ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20124447 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:1605110 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:22459801|REF_RGD_ID:6892954 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:621619 D RGD:9068941 20200609 RGD PMID:21439372|REF_RGD_ID:6893386 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052|PMID:29610475 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:621619 D RGD:9068941 20200609 RGD protein:decreased expression:left coronary artery (rat) PMID:18078953|REF_RGD_ID:6902919 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9004009 Reperfusion Injury ISO RGD:733529 D RGD:9068941 20200609 RGD protein:decreased expression:brain, neuron, cytoplasm (mouse) PMID:21075092|REF_RGD_ID:6893270 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9004250 Hepatic Insufficiency ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9004484 Sepsis ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:21799073|REF_RGD_ID:6892955 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9005369 Hepatomegaly ISO RGD:1605110 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9005930 Endotoxemia ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:22609006|REF_RGD_ID:6892951 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:18417483|REF_RGD_ID:6893370 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9008163 Chronic Hepatitis B ISO RGD:1605110 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:22459801|REF_RGD_ID:6892954 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9452 steatotic liver disease ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:22367278|REF_RGD_ID:6893372 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9675 pulmonary emphysema ISO RGD:1605110 D RGD:9068941 20200609 RGD protein:increased expression:lung (human) PMID:18559366|REF_RGD_ID:5134973 9046568 Keap1 kelch like ECH associated protein 1 gene DOID:9675 pulmonary emphysema onset ISO RGD:733529 D RGD:9068941 20200609 RGD PMID:19520915|REF_RGD_ID:6893395 9046582 Plxna4 plexin A4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1602663 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9046582 Plxna4 plexin A4 gene DOID:630 genetic disease ISO RGD:1602663 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9046623 Hdac5 histone deacetylase 5 gene DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions ISO RGD:1604649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:28492532 9046623 Hdac5 histone deacetylase 5 gene DOID:14557 primary pulmonary hypertension ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22711276 9046623 Hdac5 histone deacetylase 5 gene DOID:1596 depressive disorder ISO RGD:619980 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus: PMID:24495952|REF_RGD_ID:9681459 9046623 Hdac5 histone deacetylase 5 gene DOID:3021 acute kidney failure ISO RGD:619980 D RGD:9068941 20200609 RGD PMID:21416250|REF_RGD_ID:10047111 9046623 Hdac5 histone deacetylase 5 gene DOID:3021 acute kidney failure treatment ISO RGD:1551616 D RGD:9068941 20200609 RGD associated with sepsis; PMID:22933299|REF_RGD_ID:9590257 9046623 Hdac5 histone deacetylase 5 gene DOID:3312 bipolar disorder ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 9046623 Hdac5 histone deacetylase 5 gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:619980 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:brain: PMID:23480850|REF_RGD_ID:9681449 9046623 Hdac5 histone deacetylase 5 gene DOID:418 systemic scleroderma ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27482699 9046623 Hdac5 histone deacetylase 5 gene DOID:507 adjustment disorder ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17988634 9046623 Hdac5 histone deacetylase 5 gene DOID:630 genetic disease ISO RGD:1604649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046623 Hdac5 histone deacetylase 5 gene DOID:6432 pulmonary hypertension ISO RGD:1604649 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 9046623 Hdac5 histone deacetylase 5 gene DOID:6432 pulmonary hypertension ISO RGD:619980 D RGD:9068941 20200609 RGD protein:increased expression:lung: PMID:22711276|REF_RGD_ID:9590133 9046623 Hdac5 histone deacetylase 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1551616 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 9046623 Hdac5 histone deacetylase 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1604649 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 9046623 Hdac5 histone deacetylase 5 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619980 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney: PMID:24717296|REF_RGD_ID:9590311 9046623 Hdac5 histone deacetylase 5 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1604649 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17988634 9046623 Hdac5 histone deacetylase 5 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:619980 D RGD:9068941 20200609 RGD protein:increased expression:Right Ventricular: PMID:22711276|REF_RGD_ID:9590133 9046623 Hdac5 histone deacetylase 5 gene DOID:9256 colorectal cancer ISO RGD:1604649 D RGD:9068941 20200609 RGD mRNA:increased expression:colon: PMID:23724067|REF_RGD_ID:9590193 9046661 Aldh1a3 aldehyde dehydrogenase 1 family member A3 gene DOID:0060041 autism spectrum disorder ISO RGD:1353558 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9046661 Aldh1a3 aldehyde dehydrogenase 1 family member A3 gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 9046661 Aldh1a3 aldehyde dehydrogenase 1 family member A3 gene DOID:0060841 isolated microphthalmia 8 ISO RGD:1353558 D RGD:7240710 20180130 OMIM 9046661 Aldh1a3 aldehyde dehydrogenase 1 family member A3 gene DOID:0060841 isolated microphthalmia 8 ISO RGD:1353558 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 8 PMID:23312594|PMID:23591992|PMID:23646827|PMID:24777706|PMID:25741868|PMID:26995144|PMID:27717089|PMID:28492532|PMID:29450879|PMID:30653986 9046661 Aldh1a3 aldehyde dehydrogenase 1 family member A3 gene DOID:0111807 syndromic microphthalmia 9 ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome PMID:25741868|PMID:28590501 9046661 Aldh1a3 aldehyde dehydrogenase 1 family member A3 gene DOID:10629 microphthalmia ISO RGD:1353558 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868 9046661 Aldh1a3 aldehyde dehydrogenase 1 family member A3 gene DOID:12849 autistic disorder ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism 9046661 Aldh1a3 aldehyde dehydrogenase 1 family member A3 gene DOID:1909 melanoma ISO RGD:1353558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31580832 9046661 Aldh1a3 aldehyde dehydrogenase 1 family member A3 gene DOID:630 genetic disease ISO RGD:1353558 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046661 Aldh1a3 aldehyde dehydrogenase 1 family member A3 gene DOID:9000217 Stomach Neoplasms ISO RGD:1353558 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9046661 Aldh1a3 aldehyde dehydrogenase 1 family member A3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353558 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9046686 Kcnmb2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 gene DOID:0111546 Currarino syndrome ISO RGD:1343870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 9046686 Kcnmb2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 gene DOID:630 genetic disease ISO RGD:1343870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046695 Mitd1 microtubule interacting and trafficking domain containing 1 gene DOID:630 genetic disease ISO RGD:1602187 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:31042466|PMID:35388219 9046695 Mitd1 microtubule interacting and trafficking domain containing 1 gene DOID:9001276 Failure to Thrive ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 9046695 Mitd1 microtubule interacting and trafficking domain containing 1 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 9046695 Mitd1 microtubule interacting and trafficking domain containing 1 gene DOID:9004538 Hearing Loss ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 9046695 Mitd1 microtubule interacting and trafficking domain containing 1 gene DOID:9005603 Muscle Hypotonia ISO RGD:1602187 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:25741868|PMID:27247813|PMID:28492532|PMID:33531667 9046695 Mitd1 microtubule interacting and trafficking domain containing 1 gene DOID:9008121 Lipoyltransferase 1 Deficiency ISO RGD:1602187 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:17570395|PMID:24256811|PMID:24341803|PMID:25326635|PMID:25741868|PMID:27247813|PMID:28492532|PMID:31042466|PMID:33531667|PMID:34440436|PMID:35388219 9046707 Btnl9 butyrophilin like 9 gene DOID:630 genetic disease ISO RGD:1353775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046719 Cav1 caveolin 1 gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25811541 9046719 Cav1 caveolin 1 gene DOID:0050440 familial partial lipodystrophy ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19793595 9046719 Cav1 caveolin 1 gene DOID:0060224 atrial fibrillation ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20062060|PMID:22544366|PMID:29892015 9046719 Cav1 caveolin 1 gene DOID:0111137 congenital generalized lipodystrophy type 3 ISO RGD:619568 D RGD:7240710 20180130 OMIM 9046719 Cav1 caveolin 1 gene DOID:0111137 congenital generalized lipodystrophy type 3 ISO RGD:619568 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 3 PMID:18211975|PMID:25356970|PMID:25741868|PMID:25898808|PMID:28492532|PMID:29231014|PMID:31727138|PMID:33264630|PMID:34643546 9046719 Cav1 caveolin 1 gene DOID:10283 prostate cancer ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:11170154|REF_RGD_ID:2289112 9046719 Cav1 caveolin 1 gene DOID:10283 prostate cancer ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:14506154|REF_RGD_ID:2289109 9046719 Cav1 caveolin 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:15948133|REF_RGD_ID:2289104 9046719 Cav1 caveolin 1 gene DOID:10325 silicosis ISO RGD:619568 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:36053221 9046719 Cav1 caveolin 1 gene DOID:10652 Alzheimer's disease ISO RGD:1553438 D RGD:9068941 20220825 MouseDO OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907 9046719 Cav1 caveolin 1 gene DOID:1067 open-angle glaucoma ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835238 9046719 Cav1 caveolin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4236601 (human) PMID:20835238|REF_RGD_ID:8661783 9046719 Cav1 caveolin 1 gene DOID:1070 primary open angle glaucoma ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:24572674|REF_RGD_ID:8661770 9046719 Cav1 caveolin 1 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4236601 (human) PMID:22876122|REF_RGD_ID:8661776 9046719 Cav1 caveolin 1 gene DOID:10763 hypertension ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased expression:artery smooth muscle, blood vessel endothelial cell PMID:17986358|REF_RGD_ID:2289116 9046719 Cav1 caveolin 1 gene DOID:10763 hypertension ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1798635 9046719 Cav1 caveolin 1 gene DOID:11054 urinary bladder cancer severity ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:12866378|REF_RGD_ID:2289110 9046719 Cav1 caveolin 1 gene DOID:11446 sciatic neuropathy ISO RGD:2280 D RGD:9068941 20200609 RGD protein:decreased expression:spinal cord, blood vessel PMID:21795534|REF_RGD_ID:6784526 9046719 Cav1 caveolin 1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1553438 D RGD:9068941 20220825 MouseDO 9046719 Cav1 caveolin 1 gene DOID:12689 acoustic neuroma ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:20881564|REF_RGD_ID:8661782 9046719 Cav1 caveolin 1 gene DOID:127 leiomyoma ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:uterus PMID:17952758|REF_RGD_ID:2296031 9046719 Cav1 caveolin 1 gene DOID:13544 low tension glaucoma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4236601 (human) PMID:23743525|REF_RGD_ID:8661774 9046719 Cav1 caveolin 1 gene DOID:13641 exfoliation syndrome no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs4236601 (human) PMID:20835238|REF_RGD_ID:8661783 9046719 Cav1 caveolin 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9046719 Cav1 caveolin 1 gene DOID:1459 hypothyroidism ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased expression:cerebellum PMID:21611807|REF_RGD_ID:6784532 9046719 Cav1 caveolin 1 gene DOID:1577 limited scleroderma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human) PMID:22402147|REF_RGD_ID:8661768 9046719 Cav1 caveolin 1 gene DOID:1577 limited scleroderma susceptibility ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:enhancer, intron:multiple PMID:22402147|REF_RGD_ID:8661768 9046719 Cav1 caveolin 1 gene DOID:1580 diffuse scleroderma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:enhancer, intron:multiple PMID:22402147|REF_RGD_ID:8661768 9046719 Cav1 caveolin 1 gene DOID:1580 diffuse scleroderma susceptibility ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:intron, 3' utr: (rs729949, rs3815412, rs9920) (human) PMID:22402147|REF_RGD_ID:8661768 9046719 Cav1 caveolin 1 gene DOID:1612 breast cancer ISO RGD:1553438 D RGD:9068941 20220825 MouseDO OMIM:114480 9046719 Cav1 caveolin 1 gene DOID:1612 breast cancer ISO RGD:619568 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, breast PMID:15375584|REF_RGD_ID:2289105 9046719 Cav1 caveolin 1 gene DOID:1612 breast cancer ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs: :14713G>A (rs3807987), 29107T>A (rs7804372) (human) PMID:21965771|REF_RGD_ID:8661769 9046719 Cav1 caveolin 1 gene DOID:1612 breast cancer disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:21585620|REF_RGD_ID:8661766 9046719 Cav1 caveolin 1 gene DOID:1612 breast cancer no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:21965771|REF_RGD_ID:8661769 9046719 Cav1 caveolin 1 gene DOID:1749 squamous cell carcinoma ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:23267770|REF_RGD_ID:8661786 9046719 Cav1 caveolin 1 gene DOID:1909 melanoma disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:22134245|REF_RGD_ID:8661767 9046719 Cav1 caveolin 1 gene DOID:1936 atherosclerosis treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:23675421|REF_RGD_ID:8662275 9046719 Cav1 caveolin 1 gene DOID:224 transient cerebral ischemia ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:22007835|REF_RGD_ID:8661794 9046719 Cav1 caveolin 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:22007835|REF_RGD_ID:8661794 9046719 Cav1 caveolin 1 gene DOID:2316 brain ischemia ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:16417587|REF_RGD_ID:1581152 9046719 Cav1 caveolin 1 gene DOID:2377 multiple sclerosis ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:repeats, haplotypes:multiple PMID:19828204|REF_RGD_ID:8661778 9046719 Cav1 caveolin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:16328005|REF_RGD_ID:2289103 9046719 Cav1 caveolin 1 gene DOID:3008 invasive ductal carcinoma no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P132L (human) PMID:21909981|REF_RGD_ID:8661779 9046719 Cav1 caveolin 1 gene DOID:3070 high grade glioma ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:22528460|REF_RGD_ID:6784517 9046719 Cav1 caveolin 1 gene DOID:3459 breast carcinoma ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.P132L (human) PMID:11289096|REF_RGD_ID:8661775 9046719 Cav1 caveolin 1 gene DOID:3459 breast carcinoma ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:17915016|REF_RGD_ID:2289101 9046719 Cav1 caveolin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:18759267|REF_RGD_ID:8661773 9046719 Cav1 caveolin 1 gene DOID:3770 pulmonary fibrosis ISO RGD:619568 D RGD:9068941 20230128 CTD CTD Direct Evidence: marker/mechanism PMID:36053221 9046719 Cav1 caveolin 1 gene DOID:4001 ovarian carcinoma ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:11032026|REF_RGD_ID:2289113 9046719 Cav1 caveolin 1 gene DOID:4001 ovarian carcinoma ISO RGD:619568 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:35622184 9046719 Cav1 caveolin 1 gene DOID:418 systemic scleroderma ISO RGD:619568 D RGD:9068941 20200609 RGD protein:decreased expression:lung, skin PMID:18759267|REF_RGD_ID:8661773 9046719 Cav1 caveolin 1 gene DOID:418 systemic scleroderma susceptibility ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNPs:enhancer, intron: (rs7795356, rs926198, rs959173) (human) PMID:22402147|REF_RGD_ID:8661768 9046719 Cav1 caveolin 1 gene DOID:4450 renal cell carcinoma ISO RGD:619568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 9046719 Cav1 caveolin 1 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:15247769|REF_RGD_ID:2289107 9046719 Cav1 caveolin 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:619568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9046719 Cav1 caveolin 1 gene DOID:630 genetic disease ISO RGD:619568 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:25898808|PMID:28492532 9046719 Cav1 caveolin 1 gene DOID:6432 pulmonary hypertension ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:15353500|REF_RGD_ID:1581153 9046719 Cav1 caveolin 1 gene DOID:6432 pulmonary hypertension ISO RGD:619568 D RGD:9068941 20200609 RGD idiopathic pulmonary arterial hypertension (IPAH) PMID:17470567|REF_RGD_ID:1625360 9046719 Cav1 caveolin 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:23538027|REF_RGD_ID:8662276 9046719 Cav1 caveolin 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:1553438 D RGD:9068941 20200609 RGD associated with Hypertension PMID:24329494|REF_RGD_ID:8661789 9046719 Cav1 caveolin 1 gene DOID:8398 osteoarthritis ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:16508959|REF_RGD_ID:10043354 9046719 Cav1 caveolin 1 gene DOID:8893 psoriasis ISO RGD:619568 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:12366416|REF_RGD_ID:8661784 9046719 Cav1 caveolin 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased phosphorylation:spinal cord PMID:17275798|REF_RGD_ID:2289124 9046719 Cav1 caveolin 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:619568 D RGD:9068941 20200609 RGD associated with Melanoma PMID:22134245|REF_RGD_ID:8661767 9046719 Cav1 caveolin 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9046719 Cav1 caveolin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1553438 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:15355971|REF_RGD_ID:2289106 9046719 Cav1 caveolin 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20562527 9046719 Cav1 caveolin 1 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:619568 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:15334058|REF_RGD_ID:8661780 9046719 Cav1 caveolin 1 gene DOID:9001140 Familial Partial Lipodystrophy Type 7 ISO RGD:619568 D RGD:7240710 20180130 OMIM 9046719 Cav1 caveolin 1 gene DOID:9001140 Familial Partial Lipodystrophy Type 7 ISO RGD:619568 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome PMID:11739396|PMID:18211975|PMID:18237401|PMID:25356970|PMID:25741868|PMID:25898808|PMID:34643546 9046719 Cav1 caveolin 1 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:23764359|REF_RGD_ID:8662277 9046719 Cav1 caveolin 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9046719 Cav1 caveolin 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:619568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease PMID:25741868|PMID:30029678 9046719 Cav1 caveolin 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:619568 D RGD:9068941 20231102 RGD mRNA:increased expression:nephron tubule (human) PMID:35592524|REF_RGD_ID:401851916 9046719 Cav1 caveolin 1 gene DOID:9002221 Hyperplasia ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:12368209|REF_RGD_ID:8661765 9046719 Cav1 caveolin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:11751529|REF_RGD_ID:2289111 9046719 Cav1 caveolin 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15948133|PMID:22159333 9046719 Cav1 caveolin 1 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:17786030|REF_RGD_ID:2289102 9046719 Cav1 caveolin 1 gene DOID:9002311 Experimental Autoimmune Myocarditis ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:17060028|REF_RGD_ID:1625364 9046719 Cav1 caveolin 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15674352 9046719 Cav1 caveolin 1 gene DOID:9003936 Cardiomegaly ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:17487232|REF_RGD_ID:2289120 9046719 Cav1 caveolin 1 gene DOID:9003936 Cardiomegaly ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17487232 9046719 Cav1 caveolin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17293479|REF_RGD_ID:2289123 9046719 Cav1 caveolin 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:24919947|REF_RGD_ID:10045573 9046719 Cav1 caveolin 1 gene DOID:9004657 Weight Gain ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 9046719 Cav1 caveolin 1 gene DOID:9004874 Dermal Fibrosis ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:18759267|REF_RGD_ID:8661773 9046719 Cav1 caveolin 1 gene DOID:9005172 Lung Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29247004 9046719 Cav1 caveolin 1 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1553438 D RGD:9068941 20200609 RGD protein:decreased expression:mammary gland PMID:9685399|REF_RGD_ID:2289100 9046719 Cav1 caveolin 1 gene DOID:9005233 Experimental Mammary Neoplasms onset ISO RGD:1553438 D RGD:9068941 20200609 RGD PMID:15355971|REF_RGD_ID:2289106 9046719 Cav1 caveolin 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:619568 D RGD:9068941 20200609 RGD PMID:15334058|REF_RGD_ID:8661780 9046719 Cav1 caveolin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:25086377|REF_RGD_ID:10045572 9046719 Cav1 caveolin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18266981 9046719 Cav1 caveolin 1 gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2280 D RGD:9068941 20200609 RGD protein:increased phosphorylation:sciatic nerve PMID:17234162|REF_RGD_ID:2289125 9046719 Cav1 caveolin 1 gene DOID:9007702 Carcinogenesis ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29247004 9046719 Cav1 caveolin 1 gene DOID:9007888 Primary Pulmonary Hypertension, 3 ISO RGD:619568 D RGD:7240710 20180130 OMIM 9046719 Cav1 caveolin 1 gene DOID:9007888 Primary Pulmonary Hypertension, 3 ISO RGD:619568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 3 PMID:22474227|PMID:25741868|PMID:26387786|PMID:28492532|PMID:29231014|PMID:31727138 9046719 Cav1 caveolin 1 gene DOID:9007889 Nephrogenic Fibrosing Dermopathy no_association ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs4730751) (human) PMID:23051628|REF_RGD_ID:8661777 9046719 Cav1 caveolin 1 gene DOID:9008217 Hemorrhage ISO RGD:2280 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:22954805|REF_RGD_ID:8661809 9046719 Cav1 caveolin 1 gene DOID:9008824 Sarcopenia severity ISO RGD:619568 D RGD:9068941 20200609 RGD DNA:SNP:intron:14713G>A (rs3807987) (human) PMID:24815842|REF_RGD_ID:10045568 9046719 Cav1 caveolin 1 gene DOID:9008939 Breast Neoplasms ISO RGD:619568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19234134|PMID:19288272|PMID:20562527|PMID:21501481 9046719 Cav1 caveolin 1 gene DOID:9351 diabetes mellitus ISO RGD:619568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 9046719 Cav1 caveolin 1 gene DOID:9743 diabetic neuropathy ISO RGD:1553438 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19675140|REF_RGD_ID:8661787 9046719 Cav1 caveolin 1 gene DOID:9970 obesity ISO RGD:2280 D RGD:9068941 20200609 RGD PMID:22492718|REF_RGD_ID:6784520 9046740 Ell2 elongation factor for RNA polymerase II 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1319566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9046740 Ell2 elongation factor for RNA polymerase II 2 gene DOID:0080600 COVID-19 ISO RGD:1319566 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9046740 Ell2 elongation factor for RNA polymerase II 2 gene DOID:630 genetic disease ISO RGD:1319566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046740 Ell2 elongation factor for RNA polymerase II 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9046740 Ell2 elongation factor for RNA polymerase II 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1319566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9046756 Egfl8 EGF like domain multiple 8 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347289 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9046756 Egfl8 EGF like domain multiple 8 gene DOID:630 genetic disease ISO RGD:1347289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046786 Gli2 GLI family zinc finger 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867347 9046786 Gli2 GLI family zinc finger 2 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arteriovenous malformations of the brain PMID:25741868 9046786 Gli2 GLI family zinc finger 2 gene DOID:0070067 White-Sutton syndrome ISO RGD:1606840 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:25741868 9046786 Gli2 GLI family zinc finger 2 gene DOID:0080016 spina bifida ISO RGD:1606840 D RGD:9068941 20200609 RGD DNA, protein:hypermethylation, decreased expression:promoter, brain PMID:26446020|REF_RGD_ID:12801432 9046786 Gli2 GLI family zinc finger 2 gene DOID:0080171 esophageal atresia/tracheoesophageal fistula ISO RGD:1309270 D RGD:9068941 20200609 RGD PMID:12947339|REF_RGD_ID:12801415 9046786 Gli2 GLI family zinc finger 2 gene DOID:0080328 Culler-Jones syndrome ISO RGD:1606840 D RGD:7240710 20180130 OMIM 9046786 Gli2 GLI family zinc finger 2 gene DOID:0080328 Culler-Jones syndrome ISO RGD:1606840 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Culler-Jones syndrome PMID:15994174|PMID:20685856|PMID:22967285|PMID:23408573|PMID:25741868|PMID:28492532|PMID:30629636|PMID:31292255|PMID:6726521 9046786 Gli2 GLI family zinc finger 2 gene DOID:0110873 holoprosencephaly 9 ISO RGD:1606840 D RGD:7240710 20180130 OMIM 9046786 Gli2 GLI family zinc finger 2 gene DOID:0110873 holoprosencephaly 9 ISO RGD:1606840 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: GLI2-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:10725236|PMID:14581620|PMID:15994174|PMID:16199547|PMID:16327884|PMID:17096318|PMID:1756909|PMID:17569090|PMID:17576681|PMID:19223936|PMID:20685056|PMID:20685856|PMID:21204792|PMID:21416594|PMID:22967285|PMID:22978696|PMID:23408573|PMID:24744436|PMID:25741868|PMID:26334177|PMID:26893459|PMID:28166811|PMID:28191889|PMID:28492532|PMID:29095814|PMID:29165578|PMID:29876959|PMID:30548673|PMID:3320637|PMID:34198905|PMID:34906515|PMID:9536098 9046786 Gli2 GLI family zinc finger 2 gene DOID:0110881 holoprosencephaly 1 ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:25741868|PMID:28492532 9046786 Gli2 GLI family zinc finger 2 gene DOID:0111428 essential tremor 1 ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hand tremor PMID:25741868 9046786 Gli2 GLI family zinc finger 2 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:1606840 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:25741868|PMID:26893459|PMID:28492532 9046786 Gli2 GLI family zinc finger 2 gene DOID:1059 intellectual disability ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868 9046786 Gli2 GLI family zinc finger 2 gene DOID:10907 microcephaly ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9046786 Gli2 GLI family zinc finger 2 gene DOID:11175 enophthalmos ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Enophthalmos PMID:25741868 9046786 Gli2 GLI family zinc finger 2 gene DOID:13608 biliary atresia disease_progression ISO RGD:1606840 D RGD:9068941 20200609 RGD PMID:25746691|REF_RGD_ID:12802349 9046786 Gli2 GLI family zinc finger 2 gene DOID:14679 VACTERL association ISO RGD:1319523 D RGD:9068941 20230105 RGD PMID:11172440|REF_RGD_ID:155791680 9046786 Gli2 GLI family zinc finger 2 gene DOID:1826 epilepsy ISO RGD:1606840 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 9046786 Gli2 GLI family zinc finger 2 gene DOID:1923 disorder of sexual development ISO RGD:1606840 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868 9046786 Gli2 GLI family zinc finger 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1606840 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:26893459|PMID:28492532 9046786 Gli2 GLI family zinc finger 2 gene DOID:203 exostosis ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Exostosis PMID:25741868 9046786 Gli2 GLI family zinc finger 2 gene DOID:2512 nevoid basal cell carcinoma syndrome ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16936257 9046786 Gli2 GLI family zinc finger 2 gene DOID:2513 basal cell carcinoma ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10700170 9046786 Gli2 GLI family zinc finger 2 gene DOID:4621 holoprosencephaly ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly 9046786 Gli2 GLI family zinc finger 2 gene DOID:630 genetic disease ISO RGD:1606840 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14581620|PMID:15994174|PMID:20685856|PMID:22967285|PMID:24744436|PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:29165578 9046786 Gli2 GLI family zinc finger 2 gene DOID:9000495 Tremor ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:25741868 9046786 Gli2 GLI family zinc finger 2 gene DOID:9001471 Anorectal Malformations ISO RGD:1309270 D RGD:9068941 20230107 RGD mRNA:decreased expression:terminal rectum PMID:25213187|REF_RGD_ID:155791683 9046786 Gli2 GLI family zinc finger 2 gene DOID:9001471 Anorectal Malformations ISO RGD:1319523 D RGD:9068941 20200609 RGD PMID:11485934|REF_RGD_ID:12802352 9046786 Gli2 GLI family zinc finger 2 gene DOID:9001471 Anorectal Malformations ISO RGD:1606840 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:rectum PMID:20146882|REF_RGD_ID:12798571 9046786 Gli2 GLI family zinc finger 2 gene DOID:9002811 Facial Dysmorphism with Multiple Malformations ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 9046786 Gli2 GLI family zinc finger 2 gene DOID:9003133 Hypertelorism ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:25741868 9046786 Gli2 GLI family zinc finger 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 9046786 Gli2 GLI family zinc finger 2 gene DOID:9004464 Skin Neoplasms ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10700170 9046786 Gli2 GLI family zinc finger 2 gene DOID:9006205 Animal Disease Models ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27585885 9046786 Gli2 GLI family zinc finger 2 gene DOID:9006257 Growth Disorders ISO RGD:1606840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth Retardation 9046786 Gli2 GLI family zinc finger 2 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:31292255 9046786 Gli2 GLI family zinc finger 2 gene DOID:9008280 Holoprosencephaly 10 ISO RGD:1606840 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES PMID:25741868|PMID:28492532 9046786 Gli2 GLI family zinc finger 2 gene DOID:9008582 Developmental Disease ISO RGD:1606840 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9046786 Gli2 GLI family zinc finger 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606840 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 9046804 Tmem266 transmembrane protein 266 gene DOID:2717 Bloom syndrome ISO RGD:1351477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9046804 Tmem266 transmembrane protein 266 gene DOID:5419 schizophrenia ISO RGD:1351477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9046804 Tmem266 transmembrane protein 266 gene DOID:630 genetic disease ISO RGD:1351477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046804 Tmem266 transmembrane protein 266 gene DOID:9256 colorectal cancer ISO RGD:1351477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9046827 Nova1 NOVA alternative splicing regulator 1 gene DOID:630 genetic disease ISO RGD:1346053 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046827 Nova1 NOVA alternative splicing regulator 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1346053 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9046842 Ahrr aryl-hydrocarbon receptor repressor gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:12629597|PMID:28492532 9046842 Ahrr aryl-hydrocarbon receptor repressor gene DOID:0070487 dopamine transporter deficiency syndrome ISO RGD:1348641 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:21112253|PMID:28492532 9046842 Ahrr aryl-hydrocarbon receptor repressor gene DOID:10283 prostate cancer ISO RGD:1348641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 9046842 Ahrr aryl-hydrocarbon receptor repressor gene DOID:10763 hypertension treatment ISO RGD:1559857 D RGD:9068941 20230824 RGD PMID:30127255|PMID:31489946|REF_RGD_ID:401793709|REF_RGD_ID:401793758 9046842 Ahrr aryl-hydrocarbon receptor repressor gene DOID:630 genetic disease ISO RGD:1348641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046842 Ahrr aryl-hydrocarbon receptor repressor gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:1559857 D RGD:9068941 20230812 RGD associated with hypertension PMID:30127255|REF_RGD_ID:401793709 9046842 Ahrr aryl-hydrocarbon receptor repressor gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:1559857 D RGD:9068941 20230817 RGD associated with maternal adenine induced chronic kidney disease PMID:32604820|REF_RGD_ID:401793718 9046842 Ahrr aryl-hydrocarbon receptor repressor gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:1559857 D RGD:9068941 20230824 RGD PMID:31489946|REF_RGD_ID:401793758 9046865 Lekr1 leucine, glutamate and lysine rich 1 gene DOID:630 genetic disease ISO RGD:1605790 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046892 Rarres2 retinoic acid receptor responder 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1309874 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver,serum PMID:23507574|REF_RGD_ID:15036822 9046892 Rarres2 retinoic acid receptor responder 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1320450 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:23507574|REF_RGD_ID:15036822 9046892 Rarres2 retinoic acid receptor responder 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:1320451 D RGD:9068941 20200609 RGD PMID:23507574|REF_RGD_ID:15036822 9046892 Rarres2 retinoic acid receptor responder 2 gene DOID:10591 pre-eclampsia ISO RGD:1320450 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:34398343 9046892 Rarres2 retinoic acid receptor responder 2 gene DOID:10603 glucose intolerance ISO RGD:1320450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22355640 9046892 Rarres2 retinoic acid receptor responder 2 gene DOID:10825 essential hypertension ISO RGD:1320450 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:24047472|REF_RGD_ID:15036820 9046892 Rarres2 retinoic acid receptor responder 2 gene DOID:11612 polycystic ovary syndrome treatment ISO RGD:1309874 D RGD:9068941 20200609 RGD PMID:24762064|REF_RGD_ID:15036823 9046892 Rarres2 retinoic acid receptor responder 2 gene DOID:2999 granulosa cell tumor ISO RGD:1320450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29653259 9046892 Rarres2 retinoic acid receptor responder 2 gene DOID:630 genetic disease ISO RGD:1320450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046892 Rarres2 retinoic acid receptor responder 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1309874 D RGD:9068941 20200609 RGD protein:increased expression:multiple: PMID:30873215|REF_RGD_ID:15036825 9046892 Rarres2 retinoic acid receptor responder 2 gene DOID:9970 obesity ISO RGD:1309874 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:30873215|PMID:31284705|REF_RGD_ID:15036824|REF_RGD_ID:15036825 9046916 Coro1a coronin 1A gene DOID:0060019 coronin-1A deficiency ISO RGD:732928 D RGD:7240710 20180130 OMIM 9046916 Coro1a coronin 1A gene DOID:0060019 coronin-1A deficiency ISO RGD:732928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8 PMID:16199547|PMID:17576681|PMID:18836449|PMID:19097825|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:23522482|PMID:24033266|PMID:24372385|PMID:24811917|PMID:25073507|PMID:25666293|PMID:25741868|PMID:27577878|PMID:28492532|PMID:30899265|PMID:9536098 9046916 Coro1a coronin 1A gene DOID:0060041 autism spectrum disorder ISO RGD:732928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:18184952|PMID:25255310 9046916 Coro1a coronin 1A gene DOID:0060430 chromosome 16p11.2 duplication syndrome ISO RGD:732928 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome PMID:31690835 9046916 Coro1a coronin 1A gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:732928 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835 9046916 Coro1a coronin 1A gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:732929 D RGD:9068941 20220825 MouseDO OMIM:608971 9046916 Coro1a coronin 1A gene DOID:0090053 episodic kinesigenic dyskinesia 1 ISO RGD:732928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 9046916 Coro1a coronin 1A gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732928 D RGD:8554872 20220614 ClinVar ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868 9046916 Coro1a coronin 1A gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:732928 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 9046916 Coro1a coronin 1A gene DOID:12849 autistic disorder ISO RGD:732928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9046916 Coro1a coronin 1A gene DOID:13884 sick sinus syndrome ISO RGD:732928 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sinus node disease 9046916 Coro1a coronin 1A gene DOID:305 carcinoma ISO RGD:732928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 9046916 Coro1a coronin 1A gene DOID:399 tuberculosis ISO RGD:732928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16040207 9046916 Coro1a coronin 1A gene DOID:5419 schizophrenia ISO RGD:732928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9046916 Coro1a coronin 1A gene DOID:627 severe combined immunodeficiency ISO RGD:732928 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 9046916 Coro1a coronin 1A gene DOID:630 genetic disease ISO RGD:732928 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9046916 Coro1a coronin 1A gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:732928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 9046916 Coro1a coronin 1A gene DOID:9006153 Glycogen Storage Disease XII ISO RGD:732928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Red cell aldolase deficiency PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:28492532 9046931 Pithd1 PITH domain containing 1 gene DOID:630 genetic disease ISO RGD:1603974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046931 Pithd1 PITH domain containing 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1603974 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9046947 Ubr2 ubiquitin protein ligase E3 component n-recognin 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1313853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9046947 Ubr2 ubiquitin protein ligase E3 component n-recognin 2 gene DOID:630 genetic disease ISO RGD:1313853 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9046947 Ubr2 ubiquitin protein ligase E3 component n-recognin 2 gene DOID:905 Zellweger syndrome ISO RGD:1313853 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9047003 Thbs2 thrombospondin 2 gene DOID:11713 diabetic angiopathy ISO RGD:1322186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25381014 9047003 Thbs2 thrombospondin 2 gene DOID:630 genetic disease ISO RGD:1322186 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047003 Thbs2 thrombospondin 2 gene DOID:9000585 Intervertebral Disc Disease ISO RGD:1322186 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lumbar disc herniation, susceptibility to PMID:18455130 9047003 Thbs2 thrombospondin 2 gene DOID:9000585 Intervertebral Disc Disease susceptibility ISO RGD:1322186 D RGD:7240710 20230505 OMIM 9047003 Thbs2 thrombospondin 2 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:1310979 D RGD:9068941 20200609 RGD PMID:20136391|REF_RGD_ID:2317938 9047003 Thbs2 thrombospondin 2 gene DOID:9351 diabetes mellitus ISO RGD:1322186 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23723366 9047029 Ppp4r1 protein phosphatase 4 regulatory subunit 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:735851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 9047029 Ppp4r1 protein phosphatase 4 regulatory subunit 1 gene DOID:1059 intellectual disability ISO RGD:735851 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9047029 Ppp4r1 protein phosphatase 4 regulatory subunit 1 gene DOID:543 dystonia ISO RGD:735851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:25817843|PMID:28492532 9047029 Ppp4r1 protein phosphatase 4 regulatory subunit 1 gene DOID:630 genetic disease ISO RGD:735851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047053 Lmbrd1 LMBR1 domain containing 1 gene DOID:0050715 methylmalonic aciduria and homocystinuria type cblC ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25741868|PMID:26997947|PMID:28492532 9047053 Lmbrd1 LMBR1 domain containing 1 gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:733977 D RGD:7240710 20180130 OMIM 9047053 Lmbrd1 LMBR1 domain containing 1 gene DOID:0050717 methylmalonic aciduria and homocystinuria type cblF ISO RGD:733977 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF | ClinVar Annotator: match by term: VITAMIN B12 STORAGE DISEASE PMID:16199547|PMID:17576681|PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25047945|PMID:25741868|PMID:26997947|PMID:28492532|PMID:32552793|PMID:34958133|PMID:9536098 9047053 Lmbrd1 LMBR1 domain containing 1 gene DOID:0090144 Donnai-Barrow syndrome ISO RGD:733977 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Donnai-Barrow syndrome PMID:19136951|PMID:25741868|PMID:28492532 9047053 Lmbrd1 LMBR1 domain containing 1 gene DOID:630 genetic disease ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25741868|PMID:26997947|PMID:28492532 9047053 Lmbrd1 LMBR1 domain containing 1 gene DOID:655 inherited metabolic disorder ISO RGD:733977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:19136951|PMID:21303734|PMID:23776111|PMID:24664876|PMID:25741868|PMID:26997947|PMID:28492532 9047073 Tmem132c transmembrane protein 132C gene DOID:11372 megacolon ISO RGD:1601730 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9047073 Tmem132c transmembrane protein 132C gene DOID:630 genetic disease ISO RGD:1601730 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047086 Gpr153 G protein-coupled receptor 153 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1319513 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9047086 Gpr153 G protein-coupled receptor 153 gene DOID:5419 schizophrenia ISO RGD:1319513 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 9047086 Gpr153 G protein-coupled receptor 153 gene DOID:630 genetic disease ISO RGD:1319513 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047086 Gpr153 G protein-coupled receptor 153 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9047086 Gpr153 G protein-coupled receptor 153 gene DOID:9007491 Childhood Schizophrenia ISO RGD:1319513 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 9047097 Hs6st2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1605906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9047097 Hs6st2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:0111843 Paganini-Miozzo syndrome ISO RGD:1605906 D RGD:7240710 20190626 OMIM 9047097 Hs6st2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:0111843 Paganini-Miozzo syndrome ISO RGD:1605906 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Paganini-Miozzo syndrome PMID:25741868|PMID:28492532|PMID:30471091 9047097 Hs6st2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:12849 autistic disorder ISO RGD:1605906 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9047097 Hs6st2 heparan sulfate 6-O-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1605906 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9047114 Trim54 tripartite motif containing 54 gene DOID:0080125 mitochondrial DNA depletion syndrome 6 ISO RGD:1354245 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect PMID:25741868|PMID:28492532|PMID:30298599 9047114 Trim54 tripartite motif containing 54 gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1354245 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE PMID:25741868|PMID:28492532|PMID:30298599 9047114 Trim54 tripartite motif containing 54 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1354245 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9047114 Trim54 tripartite motif containing 54 gene DOID:630 genetic disease ISO RGD:1354245 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047128 Fsd1l fibronectin type III and SPRY domain containing 1 like gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1353389 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:17044012|PMID:17878207|PMID:18752264|PMID:28492532 9047128 Fsd1l fibronectin type III and SPRY domain containing 1 like gene DOID:10908 hydrocephalus ISO RGD:1353389 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 PMID:25741868 9047128 Fsd1l fibronectin type III and SPRY domain containing 1 like gene DOID:630 genetic disease ISO RGD:1353389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047212 Hoxa3 homeobox A3 gene DOID:11198 DiGeorge syndrome ISO RGD:1557652 D RGD:9068941 20220825 MouseDO OMIM:188400 9047212 Hoxa3 homeobox A3 gene DOID:1682 congenital heart disease ISO RGD:1344896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1673020 9047212 Hoxa3 homeobox A3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1344896 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9047212 Hoxa3 homeobox A3 gene DOID:630 genetic disease ISO RGD:1344896 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047212 Hoxa3 homeobox A3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1344896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9047212 Hoxa3 homeobox A3 gene DOID:9002213 Lymphatic Abnormalities ISO RGD:1344896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1673020 9047212 Hoxa3 homeobox A3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1344896 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1673020 9047238 Pdcl phosducin like gene DOID:630 genetic disease ISO RGD:735514 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047246 Psma7 proteasome 20S subunit alpha 7 gene DOID:630 genetic disease ISO RGD:737158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047257 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 9047257 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:13501 Moebius syndrome ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum 9047257 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:5419 schizophrenia ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9047257 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:630 genetic disease ISO RGD:1318322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047257 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9047257 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9047257 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9047257 Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 gene DOID:9007661 Dwarfism ISO RGD:1318322 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9047271 Lsm5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:11612 polycystic ovary syndrome ISO RGD:1318552 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9047271 Lsm5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9047271 Lsm5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated gene DOID:630 genetic disease ISO RGD:1318552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047280 Dnah17 dynein axonemal heavy chain 17 gene DOID:0111926 spermatogenic failure 39 ISO RGD:1345551 D RGD:7240710 20191030 OMIM 9047280 Dnah17 dynein axonemal heavy chain 17 gene DOID:0111926 spermatogenic failure 39 ISO RGD:1345551 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 39 PMID:25741868|PMID:31178125|PMID:31658987|PMID:33070343 9047280 Dnah17 dynein axonemal heavy chain 17 gene DOID:630 genetic disease ISO RGD:1345551 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9047280 Dnah17 dynein axonemal heavy chain 17 gene DOID:9007661 Dwarfism ISO RGD:1345551 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 9047386 Zmynd8 zinc finger MYND-type containing 8 gene DOID:1059 intellectual disability ISO RGD:1319938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9047386 Zmynd8 zinc finger MYND-type containing 8 gene DOID:2234 focal epilepsy ISO RGD:1319938 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9047386 Zmynd8 zinc finger MYND-type containing 8 gene DOID:630 genetic disease ISO RGD:1319938 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9047386 Zmynd8 zinc finger MYND-type containing 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319938 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9047464 Amt aminomethyltransferase gene DOID:0060852 Pierson syndrome ISO RGD:1343884 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Pierson syndrome PMID:15367484|PMID:28492532 9047464 Amt aminomethyltransferase gene DOID:1826 epilepsy ISO RGD:1343884 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9047464 Amt aminomethyltransferase gene DOID:630 genetic disease ISO RGD:1343884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12948742|PMID:23352163|PMID:25741868|PMID:26179960|PMID:27362913|PMID:27620832|PMID:27884173|PMID:28492532|PMID:8005589|PMID:9580775 9047464 Amt aminomethyltransferase gene DOID:9000953 Glycine Encephalopathy 2 ISO RGD:1343884 D RGD:7240710 20230614 OMIM 9047464 Amt aminomethyltransferase gene DOID:9000953 Glycine Encephalopathy 2 ISO RGD:1343884 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Glycine encephalopathy 2 PMID:10873393|PMID:11139253|PMID:11286506|PMID:12948742|PMID:16199547|PMID:16450403|PMID:20301531|PMID:20949620|PMID:22261077|PMID:23352163|PMID:25231368|PMID:25741868|PMID:26179960|PMID:27164344|PMID:27362913|PMID:28244183|PMID:28462797|PMID:28492532|PMID:4434100|PMID:8005589|PMID:9600239|PMID:9621520 9047464 Amt aminomethyltransferase gene DOID:9001350 Aicardi-Goutieres Syndrome 1 ISO RGD:1343884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:16845398|PMID:28492532 9047464 Amt aminomethyltransferase gene DOID:9002802 Acidoses ISO RGD:1359408 D RGD:9068941 20200609 RGD PMID:3877504|REF_RGD_ID:1599107 9047464 Amt aminomethyltransferase gene DOID:9268 glycine encephalopathy ISO RGD:1343884 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Non-ketotic hyperglycinemia PMID:10873393|PMID:11139253|PMID:11286506|PMID:12948742|PMID:15272469|PMID:16051266|PMID:16199547|PMID:16450403|PMID:17576681|PMID:19299230|PMID:20301531|PMID:20949620|PMID:21520333|PMID:22171071|PMID:22261077|PMID:22532538|PMID:23352163|PMID:24033266|PMID:25231368|PMID:25640679|PMID:25741868|PMID:26179960|PMID:26371980|PMID:26467025|PMID:27164344|PMID:27362913|PMID:27620832|PMID:27884173|PMID:28244183|PMID:28462797|PMID:28492532|PMID:29300369|PMID:30105116|PMID:31319225|PMID:33726816|PMID:4434100|PMID:6179960|PMID:8005589|PMID:9536098|PMID:9580775|PMID:9600239|PMID:9621520 9047464 Amt aminomethyltransferase gene DOID:9268 glycine encephalopathy susceptibility ISO RGD:1343884 D RGD:9068941 20200609 RGD PMID:8005589|REF_RGD_ID:1599106 9047481 Rd3 RD3 regulator of GUCY2D gene DOID:0110080 Leber congenital amaurosis 12 ISO RGD:1603852 D RGD:7240710 20180130 OMIM 9047481 Rd3 RD3 regulator of GUCY2D gene DOID:0110080 Leber congenital amaurosis 12 ISO RGD:1603852 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12 PMID:17186464|PMID:17576681|PMID:20301475|PMID:21928830|PMID:22531706|PMID:23301801|PMID:23308101|PMID:24265693|PMID:24516651|PMID:25741868|PMID:27422788|PMID:28492532|PMID:29068479|PMID:9536098 9047481 Rd3 RD3 regulator of GUCY2D gene DOID:0110080 Leber congenital amaurosis 12 treatment ISO RGD:1614303 D RGD:9068941 20200609 RGD PMID:23740938|REF_RGD_ID:11560490 9047481 Rd3 RD3 regulator of GUCY2D gene DOID:14791 Leber congenital amaurosis ISO RGD:1603852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 9047481 Rd3 RD3 regulator of GUCY2D gene DOID:1540 parathyroid carcinoma ISO RGD:1603852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9047481 Rd3 RD3 regulator of GUCY2D gene DOID:630 genetic disease ISO RGD:1603852 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9047481 Rd3 RD3 regulator of GUCY2D gene DOID:8466 retinal degeneration ISO RGD:1603852 D RGD:9068941 20200609 RGD DNA:mutations:splice junction,cds: PMID:17186464|REF_RGD_ID:11560484 9047481 Rd3 RD3 regulator of GUCY2D gene DOID:8466 retinal degeneration ISO RGD:1614303 D RGD:9068941 20200609 RGD DNA:nonsense mutation:cds: PMID:17186464|REF_RGD_ID:11560484 9047481 Rd3 RD3 regulator of GUCY2D gene DOID:9008296 Eye Abnormalities ISO RGD:1603852 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:23308101|PMID:25741868|PMID:28492532 9047481 Rd3 RD3 regulator of GUCY2D gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9047488 Traf5 TNF receptor associated factor 5 gene DOID:1540 parathyroid carcinoma ISO RGD:1605425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9047488 Traf5 TNF receptor associated factor 5 gene DOID:630 genetic disease ISO RGD:1605425 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047488 Traf5 TNF receptor associated factor 5 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605425 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9047503 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1332253 D RGD:9068941 20200609 RGD PMID:26060116|REF_RGD_ID:11532770 9047503 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1606199 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9047503 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1606199 D RGD:7240710 20180130 OMIM 9047503 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1606199 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED PMID:22958903|PMID:25558065|PMID:25741868|PMID:26436962|PMID:26467025|PMID:27066570|PMID:28492532|PMID:31130284|PMID:32570172|PMID:35131284|PMID:35229910 9047503 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 ISO RGD:1606199 D RGD:7240710 20190315 OMIM 9047503 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 ISO RGD:1606199 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 PMID:25741868|PMID:27066570|PMID:28492532|PMID:32570172 9047503 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:630 genetic disease ISO RGD:1606199 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:35131284 9047503 Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) gene DOID:9008539 Perinatal Death ISO RGD:1606199 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal death PMID:22958903|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31130284 9047550 Tbrg4 transforming growth factor beta regulator 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320236 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9047550 Tbrg4 transforming growth factor beta regulator 4 gene DOID:630 genetic disease ISO RGD:1320236 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047565 Myom3 myomesin 3 gene DOID:630 genetic disease ISO RGD:1320744 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047565 Myom3 myomesin 3 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1320744 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9047565 Myom3 myomesin 3 gene DOID:9006836 Contracture ISO RGD:1320744 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures 9047603 Syt3 synaptotagmin 3 gene DOID:630 genetic disease ISO RGD:736653 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0001816 angiosarcoma ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:blood vessel PMID:18700251|REF_RGD_ID:8694308 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30481203 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22684844|REF_RGD_ID:6892915 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24090995 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0050589 inflammatory bowel disease ISO RGD:69005 D RGD:9068941 20220825 MouseDO 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0050700 cardiomyopathy ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:23619365|REF_RGD_ID:7495791 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0050700 cardiomyopathy ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10618415|PMID:24448315 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22155737 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:737517 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:21690253|PMID:22591296|PMID:22859607|PMID:23926297|PMID:25873174|PMID:26702067|PMID:28492532|PMID:29162862|PMID:29180260|PMID:30940614|PMID:31737384|PMID:31770611|PMID:31771617|PMID:32231398|PMID:36240433 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0050902 medulloblastoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19001435 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0060071 pre-malignant neoplasm ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0060071 pre-malignant neoplasm treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23596790|REF_RGD_ID:8694319 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0060704 lymphoproliferative syndrome ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22859607|REF_RGD_ID:6892715 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0070113 Niemann-Pick disease type C1 treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:21176403|REF_RGD_ID:10403054 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0080199 colorectal carcinoma treatment ISO RGD:3772 D RGD:9068941 20210611 RGD PMID:29229353|REF_RGD_ID:127284843 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0080202 adenoid cystic carcinoma ISO RGD:737517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Adenoid cystic carcinoma 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:18782535|REF_RGD_ID:6483030 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0080545 hyper IgE syndrome ISO RGD:737517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyper-IgE syndrome PMID:17881745|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:20032313|PMID:20159255|PMID:20301786|PMID:20816194|PMID:21792878|PMID:22751495|PMID:24033266|PMID:25741868|PMID:26384563|PMID:27226025|PMID:27799162|PMID:27980540|PMID:28098554|PMID:28315006|PMID:28492532|PMID:29077208|PMID:29868029 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19796711 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0080797 nasal type extranodal NK/T-cell lymphoma ISO RGD:737517 D RGD:9068941 20220729 RGD protein:increased expression:nasal cavity (human) PMID:17225522|REF_RGD_ID:153298933 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 ISO RGD:737517 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:28492532 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26192917 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:10283 prostate cancer treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:15374974|REF_RGD_ID:8694291 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:10286 prostate carcinoma ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:18210874|REF_RGD_ID:2291910 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:10286 prostate carcinoma ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased activity:prostate gland PMID:11987152|REF_RGD_ID:2298538 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1040 chronic lymphocytic leukemia ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:peripheral blood mononuclear cell PMID:29658610|REF_RGD_ID:21081544 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:10534 stomach cancer ISO RGD:737517 D RGD:9068941 20210528 RGD human cells in mouse model, associated with mental depression; protein:increased phosphorylation:stomach (human) PMID:31396300|REF_RGD_ID:126908003 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:10534 stomach cancer treatment ISO RGD:737517 D RGD:9068941 20210611 RGD human cells in mouse model PMID:29408335|REF_RGD_ID:127284846 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:10652 Alzheimer's disease ISO RGD:69005 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:dentate gyrus, CA1 field of hippocampus PMID:18813209|REF_RGD_ID:10403051 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:10652 Alzheimer's disease ISO RGD:737517 D RGD:9068941 20200609 RGD protein:decreased tyrosine phosphorylation:dentate gyrus PMID:18813209|REF_RGD_ID:10403051 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:11054 urinary bladder cancer ISO RGD:737517 D RGD:9068941 20230406 CTD CTD Direct Evidence: marker/mechanism PMID:36115647 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1107 esophageal carcinoma treatment ISO RGD:737517 D RGD:9068941 20210625 RGD associated with Immune Deficiency Disease, human cells in mouse model PMID:25724470|REF_RGD_ID:127285656 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:114 heart disease treatment ISO RGD:3772 D RGD:9068941 20200609 RGD associated with Shock, Septic PMID:23404057|REF_RGD_ID:8694329 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1227 neutropenia ISO RGD:3772 D RGD:9068941 20200609 RGD associated with T-cell large granular lymphocyte leukemia PMID:22591296|REF_RGD_ID:6892936 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:12849 autistic disorder ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:19766327|REF_RGD_ID:6483028 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:13241 Behcet's disease ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs2293152 (human) PMID:22205606|REF_RGD_ID:6483021 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:13241 Behcet's disease no_association ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs744166, rs2293152 (human) PMID:23127549|REF_RGD_ID:8694309 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1596 depressive disorder ISO RGD:69005 D RGD:9068941 20210507 RGD protein:increased phosphorylation:hippocampus (mouse) PMID:31396300|REF_RGD_ID:126908003 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22374428|REF_RGD_ID:8694288 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer susceptibility ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:snp PMID:17639043|REF_RGD_ID:2291912 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1612 breast cancer treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:15374974|PMID:21740845|REF_RGD_ID:8694286|REF_RGD_ID:8694291 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1724 duodenal ulcer ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:24385009|REF_RGD_ID:8694318 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1749 squamous cell carcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17566705|PMID:26432044 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1749 squamous cell carcinoma disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:skin PMID:16043897|REF_RGD_ID:8694300 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1793 pancreatic cancer ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22348037|PMID:23845849 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1920 hyperuricemia treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23442673|REF_RGD_ID:10411892 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1936 atherosclerosis ISO RGD:3772 D RGD:9068941 20230615 RGD associated with type 2 diabetes mellitus; mRNA, protein:increased expression, increased phosphorylation:aorta, blood serum (rat) PMID:33889291|REF_RGD_ID:329849122 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1936 atherosclerosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:1996 rectum adenocarcinoma ISO RGD:737517 D RGD:9068941 20220812 RGD DNA:missense mutation:CDS: (rs2293152) (human) PMID:22121102|REF_RGD_ID:153323313 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:2154 nephroblastoma disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17937859|REF_RGD_ID:2291911 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:219 colon cancer ameliorates ISO RGD:737517 D RGD:9068941 20220217 RGD human cells in mouse model PMID:29899555|REF_RGD_ID:151356919 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:219 colon cancer treatment ISO RGD:3772 D RGD:9068941 20210611 RGD PMID:33360052|REF_RGD_ID:127229954 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:224 transient cerebral ischemia ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23764464|REF_RGD_ID:8694326 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:224 transient cerebral ischemia exacerbates ISO RGD:3772 D RGD:9068941 20230406 RGD PMID:23884942|REF_RGD_ID:8694331 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:2316 brain ischemia ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17901229 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:234 colon adenocarcinoma ISO RGD:737517 D RGD:9068941 20220812 RGD DNA:SNPs:introns: (rs12949918, rs6503695) (human) PMID:22121102|REF_RGD_ID:153323313 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:234 colon adenocarcinoma treatment ISO RGD:737517 D RGD:9068941 20210528 RGD human cells in mouse model PMID:32504672|REF_RGD_ID:125097526 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:2394 ovarian cancer treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:25319391|REF_RGD_ID:19165135 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:2772 irritant dermatitis treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:21511023|REF_RGD_ID:8694305 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:299 adenocarcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472|PMID:26432044 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3049 Churg-Strauss syndrome ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22772323|REF_RGD_ID:6892720 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:305 carcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3068 glioblastoma disease_progression ISO RGD:737517 D RGD:9068941 20220414 RGD mRNA, protein:increased expression:brain (human) PMID:31783691|REF_RGD_ID:151667907 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737517 D RGD:7240710 20180130 OMIM 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3261 hyper IgE recurrent infection syndrome 1 ISO RGD:737517 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: STAT3-Related Conditions PMID:16199547|PMID:17576681|PMID:17676033|PMID:17881745|PMID:17942886|PMID:18591410|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:19348930|PMID:19577286|PMID:20032313|PMID:20048285|PMID:20093388|PMID:20159255|PMID:20301786|PMID:20816194|PMID:21107604|PMID:21288777|PMID:21300911|PMID:21324546|PMID:21690253|PMID:21792878|PMID:22030463|PMID:22084479|PMID:22126402|PMID:22581330|PMID:22591296|PMID:22751495|PMID:22859607|PMID:23342295|PMID:23584561|PMID:23584591|PMID:23659370|PMID:23830147|PMID:23926297|PMID:24033266|PMID:24260974|PMID:24350896|PMID:24452316|PMID:24628715|PMID:24837465|PMID:24995504|PMID:25038750|PMID:25349174|PMID:25359994|PMID:25543043|PMID:25640679|PMID:25739182|PMID:25741868|PMID:25873174|PMID:25962528|PMID:26384563|PMID:26702067|PMID:26743515|PMID:27091139|PMID:27226025|PMID:27302695|PMID:27315770|PMID:27345172|PMID:27379089|PMID:27799162|PMID:27884935|PMID:27980540|PMID:28098554|PMID:28197791|PMID:28253502|PMID:28315006|PMID:28356514|PMID:28359783|PMID:28492532|PMID:28579554|PMID:28587312|PMID:28628107|PMID:28667753|PMID:28977911|PMID:29077208|PMID:29162862|PMID:29180260|PMID:29296824|PMID:29330115|PMID:29378236|PMID:29803798|PMID:29868029|PMID:29931222|PMID:30092289|PMID:30443250|PMID:30617622|PMID:30910759|PMID:30940614|PMID:31069200|PMID:31558678|PMID:31596517|PMID:31717342|PMID:31737384|PMID:31770611|PMID:31771617|PMID:31774495|PMID:32047491|PMID:32135276|PMID:32231398|PMID:32248557|PMID:32499645|PMID:32531373|PMID:32768442|PMID:32888943|PMID:32901917|PMID:32915432|PMID:32944025|PMID:33003453|PMID:33343952|PMID:33365035|PMID:33717144|PMID:34060650|PMID:34134972|PMID:34366294|PMID:34390446|PMID:34619682|PMID:36240433|PMID:4161105|PMID:9536098 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3314 angiomyolipoma ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:kidney PMID:15994429|REF_RGD_ID:2298537 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:lung PMID:15994429|REF_RGD_ID:2298537 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3717 gastric adenocarcinoma ISO RGD:737517 D RGD:9068941 20220729 RGD mRNA:increased expression:stomach (human) PMID:33042401|REF_RGD_ID:153298934 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3770 pulmonary fibrosis ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:22684844|REF_RGD_ID:6892915 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3770 pulmonary fibrosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30658076 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549414 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:3908 lung non-small cell carcinoma severity ISO RGD:737517 D RGD:9068941 20220428 RGD protein:increased phosphorylation:lung (human) PMID:22977534|REF_RGD_ID:152023747 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:417 autoimmune disease ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038750 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:4450 renal cell carcinoma ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:snp PMID:17602083|REF_RGD_ID:2291913 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:12131365|REF_RGD_ID:2291917 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:5082 liver cirrhosis ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:22687286|REF_RGD_ID:6892914 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:5434 scrapie ISO RGD:69005 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:brain, nucleus PMID:17897356|REF_RGD_ID:6483034 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27064016 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:5520 head and neck squamous cell carcinoma treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:24395569|REF_RGD_ID:8694302 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:737517 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:19796711 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:6000 congestive heart failure ISO RGD:737517 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:36071497 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:612 primary immunodeficiency disease ISO RGD:737517 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17676033|PMID:17881745|PMID:17942886|PMID:18591410|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:20159255|PMID:20301786|PMID:21288777|PMID:22581330|PMID:24452316|PMID:25741868|PMID:26384563|PMID:27302695|PMID:28253502|PMID:28492532|PMID:29180260|PMID:29330115|PMID:30443250|PMID:32499645|PMID:33365035|PMID:33717144 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:6262 follicular dendritic cell sarcoma ISO RGD:737517 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma PMID:24797340|PMID:25586472|PMID:25741868|PMID:28356514|PMID:28492532|PMID:33060403|PMID:34075200 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:630 genetic disease ISO RGD:737517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20816194|PMID:22030463|PMID:22581330|PMID:23434585|PMID:25741868|PMID:27803324|PMID:28253502|PMID:28492532|PMID:29330115|PMID:30315710|PMID:31170499|PMID:9671298 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:684 hepatocellular carcinoma ISO RGD:69005 D RGD:9068941 20210702 RGD protein:increased phosphorylation:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:7148 rheumatoid arthritis ISO RGD:737517 D RGD:9068941 20200609 RGD associated with T-cell large granular lymphocyte leukemia PMID:22591296|REF_RGD_ID:6892936 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:824 periodontitis treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:26825585|REF_RGD_ID:18936995 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:8577 ulcerative colitis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438405|PMID:20228799 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:8577 ulcerative colitis ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs744166 (human) PMID:22269120|REF_RGD_ID:6483020 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:874 bacterial pneumonia ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:18192501|REF_RGD_ID:6892945 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:8778 Crohn's disease ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: : (rs744166) (human) PMID:22269120|REF_RGD_ID:6483020 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:8778 Crohn's disease ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNPs: : (rs744166, rs3816769) (human) PMID:20109474|REF_RGD_ID:6483027 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23143594 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:23594598|REF_RGD_ID:8694295 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:8893 psoriasis treatment ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:20811392|REF_RGD_ID:8694306 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:8923 skin melanoma disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:21876460|REF_RGD_ID:8694297 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased expression:nucleus PMID:17110342|REF_RGD_ID:2291916 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:8991 cervix uteri carcinoma in situ disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:cervix epithelium PMID:16005944|REF_RGD_ID:2298536 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549414 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23382965 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000347 Multisystem Autoimmune Disease, Infantile-Onset, 1 ISO RGD:737517 D RGD:7240710 20180130 OMIM 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000347 Multisystem Autoimmune Disease, Infantile-Onset, 1 ISO RGD:737517 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: STAT3-related early-onset multisystem autoimmune disease PMID:16199547|PMID:17676033|PMID:17881745|PMID:17942886|PMID:20301786|PMID:21288777|PMID:21324546|PMID:22581330|PMID:24033266|PMID:24452316|PMID:25038750|PMID:25349174|PMID:25359994|PMID:25741868|PMID:27345172|PMID:27799162|PMID:28072956|PMID:28253502|PMID:28492532|PMID:29330115|PMID:30443250|PMID:30940614|PMID:32499645|PMID:32531373|PMID:32888943|PMID:32944025|PMID:33003453|PMID:33365035|PMID:33717144|PMID:34366294|PMID:4161105 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3772 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased phosphorylation:cerebral artery PMID:24517975|REF_RGD_ID:8694356 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000784 Fibrosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24448315 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737517 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased phosphorylation PMID:12131365|REF_RGD_ID:2291917 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737517 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased activity PMID:17382154|REF_RGD_ID:2291915 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:737517 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:21937440|PMID:23382965|PMID:26101800 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000965 Neoplasm Metastasis treatment ISO RGD:737517 D RGD:9068941 20200609 RGD associated with Melanoma PMID:16540670|REF_RGD_ID:8694303 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000972 Fever ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25429137 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000998 Brain Injuries ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:21596098|PMID:22827467|REF_RGD_ID:6483023|REF_RGD_ID:6892706 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9000998 Brain Injuries ISO RGD:3772 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:22145815|REF_RGD_ID:8694312 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:17525280|REF_RGD_ID:8694307 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9001044 Choroidal Neovascularization treatment ISO RGD:69005 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:23094067|REF_RGD_ID:10403057 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9001472 Nasal Polyps ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22959364|REF_RGD_ID:8694314 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:3772 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26297436|PMID:28100771 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:21858029|REF_RGD_ID:8694310 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9001866 Pyogenic Granuloma ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:blood vessel PMID:18700251|REF_RGD_ID:8694308 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3772 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22745068|REF_RGD_ID:10403082 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9002170 Experimental Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29507229 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9002211 Hyperalgesia treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:24098399|REF_RGD_ID:8694290 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:69005 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18317887|REF_RGD_ID:2291908 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14975756|PMID:16427044|PMID:25970160 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9002457 Experimental Arthritis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15188379|PMID:21937456 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23711144|REF_RGD_ID:10403081 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21909139 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9002762 Ovarian Neoplasms ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased phosphorylation:ovary PMID:15771796|REF_RGD_ID:2291931 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:17878325|PMID:22066025|REF_RGD_ID:6483041|REF_RGD_ID:6892946 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9002909 Oxygen-Induced Retinopathy ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:16303927|REF_RGD_ID:8694296 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9002928 Colonic Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19028472 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:uterine cervix PMID:17311011|REF_RGD_ID:1643476 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9003936 Cardiomegaly ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10618415|PMID:19299911|PMID:24448315 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9004009 Reperfusion Injury ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21940958 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:17318196|REF_RGD_ID:8694293 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9004462 Atrophy ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16391472 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9004464 Skin Neoplasms ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:18453544|PMID:19137019|REF_RGD_ID:8694289|REF_RGD_ID:8694294 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9004484 Sepsis treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:24228589|REF_RGD_ID:10411888 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:737517 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:26101800 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3772 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:17483332|REF_RGD_ID:2291914 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9005372 Inflammation ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:20943775|PMID:21937456|PMID:24448315 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3772 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:aorta endothelium PMID:18230613|REF_RGD_ID:2291921 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:22660795|REF_RGD_ID:8694292 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:22238646|REF_RGD_ID:8694304 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9005873 Tongue Neoplasms ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:17169602|REF_RGD_ID:8694287 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9005873 Tongue Neoplasms disease_progression ISO RGD:737517 D RGD:9068941 20200609 RGD PMID:22302289|REF_RGD_ID:8694311 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9006205 Animal Disease Models ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25812446 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9006285 Epidermal Hyperplasia ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:23870655|REF_RGD_ID:8699499 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9006395 Copper-Overload Cirrhosis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:69005 D RGD:9068941 20200609 RGD PMID:18424728|REF_RGD_ID:8694299 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9007188 Liver Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12957465 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:737517 D RGD:9068941 20221103 CTD CTD Direct Evidence: marker/mechanism PMID:25970160|PMID:26101800|PMID:34953898 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:endometrium PMID:17311011|REF_RGD_ID:1643476 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23796350|REF_RGD_ID:8694332 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9007842 Sepsis-Associated Encephalopathy treatment ISO RGD:3772 D RGD:9068941 20200609 RGD PMID:23236988|REF_RGD_ID:10403076 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9008 psoriatic arthritis ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs744166 (human) PMID:23127549|REF_RGD_ID:8694309 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9008 psoriatic arthritis no_association ISO RGD:737517 D RGD:9068941 20200609 RGD DNA:SNP: :rs2293152 (human) PMID:23127549|REF_RGD_ID:8694309 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9008023 Memory Disorders ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17928813 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9008510 Chronic Hepatitis ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22879914 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9008691 Liver Injury treatment ISO RGD:3772 D RGD:9068941 20200609 RGD associated with Pancreatitis, Acute PMID:24161994|REF_RGD_ID:8694328 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9008939 Breast Neoplasms ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14975756 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9119 acute myeloid leukemia ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19796711 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9256 colorectal cancer ISO RGD:69005 D RGD:9068941 20220825 MouseDO OMIM:114500 | OMIM:608812 | OMIM:611469 | OMIM:612229 | OMIM:612230 | OMIM:612231 | OMIM:612232 | OMIM:612589 | OMIM:612590 | OMIM:612591 | OMIM:612592 | OMIM:615083 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9261 nasopharynx carcinoma severity ISO RGD:737517 D RGD:9068941 20210716 RGD protein:increased expression:mucosa of nasopharynx (human) PMID:30123088|REF_RGD_ID:149735327 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:737517 D RGD:9068941 20200609 RGD protein:increased tyrosine phosphorylation:skeletal muscle PMID:23043161|REF_RGD_ID:8694321 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:737517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25038750 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9970 obesity ISO RGD:3772 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:hypothalamus PMID:23397595|REF_RGD_ID:10411893 9047623 Stat3 signal transducer and activator of transcription 3 gene DOID:9997 peripartum cardiomyopathy ISO RGD:69005 D RGD:9068941 20220825 MouseDO 9047660 Wfdc1 WAP four-disulfide core domain 1 gene DOID:0080600 COVID-19 ISO RGD:68974 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9047660 Wfdc1 WAP four-disulfide core domain 1 gene DOID:10283 prostate cancer ISO RGD:68974 D RGD:9068941 20200609 RGD mRNA:decreased expression:prostate gland PMID:15305342|REF_RGD_ID:2291859 9047660 Wfdc1 WAP four-disulfide core domain 1 gene DOID:10283 prostate cancer disease_progression ISO RGD:68974 D RGD:9068941 20200609 RGD protein:decreased expression, increased expression:connective tissue, epithelium PMID:15305341|REF_RGD_ID:2291860 9047660 Wfdc1 WAP four-disulfide core domain 1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:68974 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 9047660 Wfdc1 WAP four-disulfide core domain 1 gene DOID:1909 melanoma ISO RGD:68974 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17145863 9047660 Wfdc1 WAP four-disulfide core domain 1 gene DOID:630 genetic disease ISO RGD:68974 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1346227 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:0080162 lupus nephritis ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:15681388|REF_RGD_ID:7240529 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:1037 lymphoid leukemia treatment ISO RGD:1346227 D RGD:9068941 20200609 RGD PMID:20705761|REF_RGD_ID:11344969 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:1227 neutropenia ISO RGD:1346227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:12365 malaria ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malaria, resistance to PMID:12115230|PMID:15459183|PMID:16115811|PMID:16170323|PMID:17435165|PMID:20385827 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:12365 malaria susceptibility ISO RGD:1346227 D RGD:7240710 20240320 OMIM 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:1540 parathyroid carcinoma ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:1936 atherosclerosis ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:17053192|REF_RGD_ID:7240526 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:2237 hepatitis severity ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:17322382|REF_RGD_ID:11344954 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:2841 asthma ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:20179765|REF_RGD_ID:11344929 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:2921 glomerulonephritis ISO RGD:1346227 D RGD:9068941 20200609 RGD PMID:19640933|REF_RGD_ID:5508403 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:417 autoimmune disease ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:18390752|REF_RGD_ID:7240525 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:417 autoimmune disease ISO RGD:1346227 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10848805 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:630 genetic disease ISO RGD:1346227 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:783 end stage renal disease ISO RGD:1346227 D RGD:9068941 20200609 RGD PMID:15266033|REF_RGD_ID:7240530 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1346227 D RGD:9068941 20200609 RGD DNA:SNP: :p.I232T (human) PMID:19549396|REF_RGD_ID:11344927 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:8924 autoimmune thrombocytopenic purpura disease_progression ISO RGD:1346227 D RGD:9068941 20200609 RGD DNA:SNP: :p.I232T (human) PMID:15566359|REF_RGD_ID:11344928 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:21045192|PMID:22257295|REF_RGD_ID:11344931|REF_RGD_ID:11344955 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:8924 autoimmune thrombocytopenic purpura treatment ISO RGD:1346227 D RGD:9068941 20200609 RGD PMID:21131591|REF_RGD_ID:11040933 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:9002457 Experimental Arthritis ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:23341540|REF_RGD_ID:11344930 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:9004610 Acute Lung Injury treatment ISO RGD:631331 D RGD:9068941 20200609 RGD PMID:19106808|REF_RGD_ID:5147925 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:9007398 Phospholipidosis ISO RGD:631331 D RGD:9068941 20200609 RGD mRNA:increased expression:heart, blood PMID:25580480|REF_RGD_ID:11344961 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:9074 systemic lupus erythematosus ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus, susceptibility to PMID:12115230|PMID:15459183|PMID:15895258|PMID:16115811|PMID:16170323|PMID:17435165|PMID:20385827 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:9074 systemic lupus erythematosus no_association ISO RGD:1346227 D RGD:9068941 20200609 RGD DNA:SNPs:exon, intron:10849T>C (rs1050501), 10950T>G (rs6666965) (human) PMID:26084639|REF_RGD_ID:11056171 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:9074 systemic lupus erythematosus severity ISO RGD:1346227 D RGD:9068941 20200609 RGD DNA:SNP:intron:11045G>T (rs12117530) (human) PMID:26084639|REF_RGD_ID:11056171 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:1346227 D RGD:7240710 20240320 OMIM 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:9074 systemic lupus erythematosus treatment ISO RGD:1332447 D RGD:9068941 20210528 RGD PMID:18156625|PMID:20530521|REF_RGD_ID:9588566|REF_RGD_ID:9588603 9047679 Fcgr2b Fc fragment of IgG receptor IIb gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346227 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9047719 Pole4 DNA polymerase epsilon 4, accessory subunit gene DOID:630 genetic disease ISO RGD:1317190 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047727 Tiparp TCDD inducible poly(ADP-ribose) polymerase gene DOID:630 genetic disease ISO RGD:1314636 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047727 Tiparp TCDD inducible poly(ADP-ribose) polymerase gene DOID:9002762 Ovarian Neoplasms ISO RGD:1314636 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20852632 9047738 Myt1 myelin transcription factor 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1312603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9047738 Myt1 myelin transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:1312603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9047738 Myt1 myelin transcription factor 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1312603 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 9047738 Myt1 myelin transcription factor 1 gene DOID:630 genetic disease ISO RGD:1312603 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047769 Dmxl2 Dmx like 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9047769 Dmxl2 Dmx like 2 gene DOID:0080267 autosomal dominant nonsyndromic deafness 71 ISO RGD:1347338 D RGD:7240710 20190315 OMIM 9047769 Dmxl2 Dmx like 2 gene DOID:0080267 autosomal dominant nonsyndromic deafness 71 ISO RGD:1347338 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 71 PMID:25741868|PMID:27657680|PMID:28492532|PMID:33715530|PMID:35802133|PMID:36633841 9047769 Dmxl2 Dmx like 2 gene DOID:0112217 developmental and epileptic encephalopathy 81 ISO RGD:1347338 D RGD:7240710 20191211 OMIM 9047769 Dmxl2 Dmx like 2 gene DOID:0112217 developmental and epileptic encephalopathy 81 ISO RGD:1347338 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 PMID:17576681|PMID:25741868|PMID:28492532|PMID:30237576|PMID:31688942|PMID:9536098 9047769 Dmxl2 Dmx like 2 gene DOID:13938 amenorrhea ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266 9047769 Dmxl2 Dmx like 2 gene DOID:2717 Bloom syndrome ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9047769 Dmxl2 Dmx like 2 gene DOID:607 paraplegia ISO RGD:1347338 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 9047769 Dmxl2 Dmx like 2 gene DOID:630 genetic disease ISO RGD:1347338 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9047769 Dmxl2 Dmx like 2 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1347338 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 9047769 Dmxl2 Dmx like 2 gene DOID:9004244 Polyendocrine-Polyneuropathy Syndrome ISO RGD:1347338 D RGD:7240710 20180130 OMIM 9047769 Dmxl2 Dmx like 2 gene DOID:9004244 Polyendocrine-Polyneuropathy Syndrome ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polyendocrine-polyneuropathy syndrome PMID:25248098|PMID:25741868|PMID:28492532 9047769 Dmxl2 Dmx like 2 gene DOID:9004538 Hearing Loss ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 9047769 Dmxl2 Dmx like 2 gene DOID:9007428 Muscle Spasticity ISO RGD:1347338 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Spasticity PMID:25741868|PMID:28492532 9047769 Dmxl2 Dmx like 2 gene DOID:9256 colorectal cancer ISO RGD:1347338 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9047826 Zdhhc18 zinc finger DHHC-type palmitoyltransferase 18 gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:1319625 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 9047826 Zdhhc18 zinc finger DHHC-type palmitoyltransferase 18 gene DOID:630 genetic disease ISO RGD:1319625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047853 Fbxl19 F-box and leucine rich repeat protein 19 gene DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency ISO RGD:1322203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 9047853 Fbxl19 F-box and leucine rich repeat protein 19 gene DOID:0111301 generalized epilepsy with febrile seizures plus 9 ISO RGD:1322203 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 PMID:28492532 9047853 Fbxl19 F-box and leucine rich repeat protein 19 gene DOID:630 genetic disease ISO RGD:1322203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9047853 Fbxl19 F-box and leucine rich repeat protein 19 gene DOID:8893 psoriasis ISO RGD:1322203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 9047853 Fbxl19 F-box and leucine rich repeat protein 19 gene DOID:9008 psoriatic arthritis ISO RGD:1322203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20953189 9047879 Ttn titin gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1605120 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy PMID:17576681|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25016126|PMID:25448463|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28857138|PMID:30564623|PMID:9536098 9047879 Ttn titin gene DOID:0050451 Brugada syndrome ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27588451|PMID:27854218|PMID:28492532|PMID:29099038|PMID:30985088|PMID:31481236|PMID:31795264 9047879 Ttn titin gene DOID:0050557 congenital muscular dystrophy ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868 9047879 Ttn titin gene DOID:0050638 transthyretin amyloidosis ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32246154|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:34137518|PMID:34782754|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35207729|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34782754|PMID:35177841|PMID:35207729|PMID:35629941|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34782754|PMID:35177841|PMID:35207729|PMID:35629941|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34782754|PMID:35177841|PMID:35207729|PMID:35629941|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34782754|PMID:35177841|PMID:35207729|PMID:35629941|PMID:37549721|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34782754|PMID:34935411|PMID:35177841|PMID:35207729|PMID:35629941|PMID:37549721|PMID:9536098 9047879 Ttn titin gene DOID:0050700 cardiomyopathy ISO RGD:1605120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27418678|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29093449|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31251381|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34587765|PMID:34731013|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:35177841|PMID:35207729|PMID:35629941|PMID:36264615|PMID:37549721|PMID:9536098 9047879 Ttn titin gene DOID:0050823 third-degree atrioventricular block ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Third degree atrioventricular block PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31251381|PMID:31470098|PMID:31983221|PMID:34135346 9047879 Ttn titin gene DOID:0060224 atrial fibrillation ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:17344846|PMID:17576681|PMID:20890277|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24459294|PMID:24503780|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25979592|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26597493|PMID:26773040|PMID:27066551|PMID:27493940|PMID:28492532|PMID:32778822|PMID:9536098 9047879 Ttn titin gene DOID:0060480 left ventricular noncompaction ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction PMID:25741868|PMID:28492532 9047879 Ttn titin gene DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:25741868 9047879 Ttn titin gene DOID:0080000 muscular disease ISO RGD:1605120 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Muscle disorders PMID:18948003|PMID:22335739|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26701604|PMID:27796757|PMID:27930701|PMID:28166282|PMID:28255936|PMID:28295036|PMID:28492532|PMID:28771489|PMID:29435569|PMID:30615648|PMID:31028938 9047879 Ttn titin gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 9047879 Ttn titin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11846417|PMID:18414213|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858 9047879 Ttn titin gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11846417|PMID:18414213|PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:27869827|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858|PMID:32528171|PMID:32964742 9047879 Ttn titin gene DOID:0080395 orofacial cleft 1 ISO RGD:1605120 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Orofacial cleft 1 PMID:18414213|PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532 9047879 Ttn titin gene DOID:0080991 congenital myopathy 1B ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868 9047879 Ttn titin gene DOID:0081337 congenital myopathy ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital myopathy PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26516846|PMID:27854218|PMID:28492532|PMID:29099038|PMID:31481236 9047879 Ttn titin gene DOID:0081341 congenital myopathy 5 ISO RGD:1605120 D RGD:7240710 20180130 OMIM 9047879 Ttn titin gene DOID:0081341 congenital myopathy 5 ISO RGD:1605120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy | ClinVar Annotator: match by term: Salih Myopathy PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22238790|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25741882|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28851873|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30471092|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34088380|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34440373|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34782754|PMID:34935411|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35741838|PMID:36005429|PMID:36264615|PMID:37549721|PMID:9536098|PMID:9804419 9047879 Ttn titin gene DOID:0090048 dystonia 16 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonia 16 PMID:28492532 9047879 Ttn titin gene DOID:0110070 arrhythmogenic right ventricular dysplasia 1 ISO RGD:1605120 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 9047879 Ttn titin gene DOID:0110077 arrhythmogenic right ventricular dysplasia 9 ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26567375|PMID:26676851|PMID:28492532|PMID:29253866 9047879 Ttn titin gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1605120 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:17576681|PMID:22335739|PMID:22526018|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27066507|PMID:28492532|PMID:28822653|PMID:31983221|PMID:9536098 9047879 Ttn titin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1605120 D RGD:7240710 20180130 OMIM 9047879 Ttn titin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1605120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16199547|PMID:16733766|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21572417|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23910462|PMID:23975875|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24319099|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25798586|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26084686|PMID:26187847|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26392295|PMID:26395554|PMID:26406308|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27353043|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27868403|PMID:27869827|PMID:27886618|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28714951|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28851873|PMID:28857138|PMID:29029073|PMID:29093449|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29253866|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29540472|PMID:29544605|PMID:29590070|PMID:29650543|PMID:29691892|PMID:29750433|PMID:29761117|PMID:29773157|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30107846|PMID:30109841|PMID:30165862|PMID:30238059|PMID:30333491|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30429050|PMID:30453078|PMID:30471092|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30662450|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30816495|PMID:30821013|PMID:30827497|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31130284|PMID:31215789|PMID:31216868|PMID:31218166|PMID:31230720|PMID:31251381|PMID:31317183|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31486067|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31618753|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31785789|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32233023 9047879 Ttn titin gene DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J ISO RGD:1605120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:32235935|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32403337|PMID:32528171|PMID:32529721|PMID:32597815|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32826072|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33019804|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33190517|PMID:33226272|PMID:33297573|PMID:33333461|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33673806|PMID:33692775|PMID:33726816|PMID:33820833|PMID:33874732|PMID:33906374|PMID:34011823|PMID:34036930|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34350506|PMID:34495297|PMID:34540771|PMID:34587765|PMID:34667957|PMID:34731013|PMID:34756330|PMID:34782754|PMID:34918981|PMID:34935411|PMID:34958143|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35387801|PMID:35605965|PMID:35606766|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36264615|PMID:37549721|PMID:9536098|PMID:9804419 9047879 Ttn titin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858 9047879 Ttn titin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858|PMID:32880476 9047879 Ttn titin gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:27869827|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858|PMID:32528171|PMID:32880476|PMID:32964742 9047879 Ttn titin gene DOID:0110315 hypertrophic cardiomyopathy 9 ISO RGD:1605120 D RGD:7240710 20180130 OMIM 9047879 Ttn titin gene DOID:0110315 hypertrophic cardiomyopathy 9 ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 PMID:10462489|PMID:11310621|PMID:16084088|PMID:17344846|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23514108|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24082139|PMID:24119082|PMID:24231549|PMID:24384345|PMID:24395473|PMID:24444549|PMID:24459294|PMID:24503780|PMID:24558114|PMID:24575448|PMID:24636144|PMID:24884718|PMID:24980681|PMID:25037085|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25448463|PMID:25500009|PMID:25589632|PMID:25741868|PMID:25825243|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26777568|PMID:27066551|PMID:27302369|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27796757|PMID:27854229|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30453078|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31514951|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34782754|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36264615|PMID:9536098 9047879 Ttn titin gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1605120 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:17576681|PMID:21520333|PMID:22335739|PMID:23418287|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24119082|PMID:24503780|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532|PMID:28798025|PMID:29691892|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:31514951|PMID:31660661|PMID:31691645|PMID:32160020|PMID:32277046|PMID:33012304|PMID:34315225|PMID:34782754|PMID:9536098 9047879 Ttn titin gene DOID:0110429 dilated cardiomyopathy 1H ISO RGD:1605120 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect PMID:21520333|PMID:22335739|PMID:23418287|PMID:23975875|PMID:24033266|PMID:24119082|PMID:24503780|PMID:25448463|PMID:25589632|PMID:25741868|PMID:28492532|PMID:28798025|PMID:29691892|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:31514951|PMID:31660661|PMID:32160020|PMID:32277046|PMID:34315225|PMID:34782754 9047879 Ttn titin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1605120 D RGD:7240710 20180130 OMIM 9047879 Ttn titin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1605120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:10051295|PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11788824|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:16084088|PMID:16199547|PMID:16733766|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19763152|PMID:19911250|PMID:20301498|PMID:20307669|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21572417|PMID:21617319|PMID:21681106|PMID:21810661|PMID:22335739|PMID:22406018|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23297410|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25326637|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25640679|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25798586|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26077850|PMID:26084686|PMID:26187847|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26315439|PMID:26383259|PMID:26392295|PMID:26395554|PMID:26406308|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26581302|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26841830|PMID:26899768|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27182706|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27353043|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27544385|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27625338|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27868403|PMID:27869827|PMID:27886618|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28166282|PMID:28166811|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28357410|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28449774|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28714951|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28790152|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28851873|PMID:28857138|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29057560|PMID:29093449|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29253866|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29540472|PMID:29544605|PMID:29590070|PMID:29650543|PMID:29691892|PMID:29750433|PMID:29761117|PMID:29773157|PMID:29792937|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30012837|PMID:30021846|PMID:30025578|PMID:30061524|PMID:30086531|PMID:30107846|PMID:30109841|PMID:30165862|PMID:30238059|PMID:30269836|PMID:30333491|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30429050|PMID:30453078|PMID:30467950|PMID:30471092|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30557390|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30662450 9047879 Ttn titin gene DOID:0110430 dilated cardiomyopathy 1G ISO RGD:1605120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:30665247|PMID:30666435|PMID:30681174|PMID:30724488|PMID:30770808|PMID:30816495|PMID:30821013|PMID:30827497|PMID:30847666|PMID:30858397|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31053406|PMID:31069529|PMID:31112426|PMID:31127727|PMID:31130284|PMID:31215789|PMID:31216868|PMID:31218166|PMID:31230720|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31392414|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31486067|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31568572|PMID:31589614|PMID:31618753|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31785789|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32403337|PMID:32528171|PMID:32529721|PMID:32597815|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32826072|PMID:32846814|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33012304|PMID:33019804|PMID:33049752|PMID:33060286|PMID:33106378|PMID:33127292|PMID:33146414|PMID:33179747|PMID:33190517|PMID:33226272|PMID:33297573|PMID:33333461|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33481221|PMID:33500567|PMID:33552729|PMID:33673806|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33906374|PMID:34011823|PMID:34036930|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34350506|PMID:34440373|PMID:34495297|PMID:34540771|PMID:34553419|PMID:34587765|PMID:34667957|PMID:34731013|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:34943567|PMID:34952434|PMID:34958143|PMID:35027292|PMID:35054181|PMID:35063694|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35387801|PMID:35605965|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36264615|PMID:36675693|PMID:37549721|PMID:4315225|PMID:9536098|PMID:9804419 9047879 Ttn titin gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:12145747|PMID:17444505|PMID:18948003|PMID:21520333|PMID:22335739|PMID:23975875|PMID:24033266|PMID:24119082|PMID:24395473|PMID:24503780|PMID:25214167|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26701604|PMID:26735901|PMID:27532257|PMID:27813223|PMID:27869827|PMID:27886618|PMID:28045975|PMID:28255936|PMID:28416588|PMID:28492532|PMID:28798025|PMID:29377983|PMID:29447731|PMID:29540472|PMID:30109841|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:31112426|PMID:31216868|PMID:31514951|PMID:31660661|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32277046|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:33106378|PMID:33432171|PMID:33500567|PMID:33874732|PMID:34315225|PMID:34495297|PMID:34935411|PMID:35605965 9047879 Ttn titin gene DOID:0110454 dilated cardiomyopathy 1S ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:28045975|PMID:28135719|PMID:28492532|PMID:29253866 9047879 Ttn titin gene DOID:0110910 leukocyte adhesion deficiency 1 ISO RGD:1605120 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: LEUKOCYTE ADHESION DEFICIENCY, TYPE I PMID:17576681|PMID:25589632|PMID:26639818|PMID:27493940|PMID:28492532|PMID:32778822|PMID:9536098 9047879 Ttn titin gene DOID:0110957 Gaucher's disease type I ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GD I PMID:25741868 9047879 Ttn titin gene DOID:0111078 tibial muscular dystrophy ISO RGD:1605120 D RGD:7240710 20180718 OMIM 9047879 Ttn titin gene DOID:0111078 tibial muscular dystrophy ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 9047879 Ttn titin gene DOID:0111078 tibial muscular dystrophy ISO RGD:1605120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19477645|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20571043|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36264615|PMID:37549721|PMID:9536098 9047879 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:7240710 20190703 OMIM 9047879 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29997562|PMID:30086531|PMID:30365001|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31983221|PMID:32246154|PMID:32746448|PMID:32934002|PMID:33297573|PMID:33449170|PMID:34137518|PMID:9536098 9047879 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098 9047879 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 9047879 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:35629941|PMID:9536098 9047879 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:36005429|PMID:9536098 9047879 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:36005429|PMID:9536098 9047879 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35741838|PMID:36005429|PMID:37549721|PMID:9536098 9047879 Ttn titin gene DOID:0111188 myofibrillar myopathy 9 ISO RGD:1605120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35741838|PMID:36005429|PMID:36264615|PMID:37549721|PMID:9536098 9047879 Ttn titin gene DOID:0111216 autosomal recessive centronuclear myopathy ISO RGD:1605120 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29540445|PMID:29590070|PMID:29970176|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30993396|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:32246154|PMID:32746448|PMID:33449170|PMID:34137518 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29540445|PMID:29590070|PMID:29961767|PMID:29970176|PMID:30531895|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30993396|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:32246154|PMID:32746448|PMID:33449170|PMID:33692775|PMID:34137518 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30564623|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31589614|PMID:31795264|PMID:31847883|PMID:31983221|PMID:32039858|PMID:32235935|PMID:32246154|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32964742|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34106991|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21270786|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25974703|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:35629941|PMID:9536098 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33179747|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:36005429|PMID:9536098 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:36005429|PMID:9536098 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35741838|PMID:36005429|PMID:9536098 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35741838|PMID:36005429|PMID:37549721|PMID:9536098 9047879 Ttn titin gene DOID:11720 distal myopathy ISO RGD:1605120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36264615|PMID:37549721|PMID:9536098 9047879 Ttn titin gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Muscular Dystrophies, Limb-Girdle PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:24892279|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:27796757|PMID:27869827|PMID:28295036|PMID:28492532|PMID:29435569|PMID:32246154|PMID:32528171|PMID:32778822|PMID:32964742|PMID:34106991|PMID:34540771|PMID:35653365 9047879 Ttn titin gene DOID:11836 clubfoot ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bilateral talipes equinovarus PMID:23861362|PMID:25741868 9047879 Ttn titin gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1605120 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17344846|PMID:17576681|PMID:18414213|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24271327|PMID:24440382|PMID:24476948|PMID:24503780|PMID:25163546|PMID:25447171|PMID:25589632|PMID:25741868|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26676851|PMID:26718681|PMID:27066507|PMID:27930701|PMID:28045975|PMID:28492532|PMID:28600387|PMID:28750076|PMID:28822653|PMID:28831623|PMID:29988065|PMID:30847666|PMID:30993396|PMID:31489791|PMID:31879508|PMID:31983221|PMID:33106378|PMID:33552729|PMID:33692775|PMID:34137518|PMID:37549721|PMID:9536098 9047879 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24395473|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28256728|PMID:28416588|PMID:28492532|PMID:28716623|PMID:28771489|PMID:28822653|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29361395|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30615648|PMID:30681174|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31727422|PMID:31983221|PMID:32039858|PMID:32233023|PMID:32235935|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32964742|PMID:33106378|PMID:9536098 9047879 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24395473|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28256728|PMID:28416588|PMID:28492532|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32964742|PMID:33106378|PMID:33874732|PMID:34495297|PMID:34540771|PMID:9536098 9047879 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28941705|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33874732|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:9536098 9047879 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:35177841|PMID:9536098 9047879 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:35177841|PMID:35629941|PMID:9536098 9047879 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:34952434|PMID:35027292|PMID:35177841|PMID:35629941|PMID:9536098 9047879 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26639818|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:34952434|PMID:35027292|PMID:35177841|PMID:35629941|PMID:9536098 9047879 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34756330|PMID:34782754|PMID:34952434|PMID:35027292|PMID:35177841|PMID:35629941|PMID:9536098 9047879 Ttn titin gene DOID:12930 dilated cardiomyopathy ISO RGD:1605120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31216868|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34553419|PMID:34587765|PMID:34667957|PMID:34756330|PMID:34782754|PMID:34935411|PMID:34952434|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35605965|PMID:35629941|PMID:35653365|PMID:36264615|PMID:9536098 9047879 Ttn titin gene DOID:14717 centronuclear myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532|PMID:30609409 9047879 Ttn titin gene DOID:1926 Gaucher's disease ISO RGD:1605120 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GBA DEFICIENCY PMID:25741868 9047879 Ttn titin gene DOID:1969 cerebral palsy ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 9047879 Ttn titin gene DOID:2843 long QT syndrome ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17344846|PMID:23861362|PMID:24033266|PMID:25145518|PMID:25741868|PMID:26467025|PMID:26567375|PMID:27930701|PMID:28492532|PMID:29253866 9047879 Ttn titin gene DOID:2843 long QT syndrome ISO RGD:1605120 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17344846|PMID:23861362|PMID:24033266|PMID:25145518|PMID:25741868|PMID:26467025|PMID:26567375|PMID:27854218|PMID:27930701|PMID:28492532|PMID:29253866 9047879 Ttn titin gene DOID:2843 long QT syndrome ISO RGD:1605120 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:17344846|PMID:23861362|PMID:24033266|PMID:25145518|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26567375|PMID:27930701|PMID:28492532|PMID:29253866|PMID:31785789 9047879 Ttn titin gene DOID:3393 coronary artery disease ISO RGD:1605120 D RGD:9068941 20200609 RGD PMID:12221049|REF_RGD_ID:1580780 9047879 Ttn titin gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31983221|PMID:32233023 9047879 Ttn titin gene DOID:397 restrictive cardiomyopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy | ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:17576681|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098 9047879 Ttn titin gene DOID:422 congenital structural myopathy ISO RGD:1605120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myotubular myopathy PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:26701604|PMID:28492532|PMID:30609409 9047879 Ttn titin gene DOID:423 myopathy ISO RGD:1605120 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Myopathy PMID:18948003|PMID:22335739|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26701604|PMID:27796757|PMID:27930701|PMID:28166282|PMID:28255936|PMID:28295036|PMID:28492532|PMID:28771489|PMID:29435569|PMID:30615648|PMID:31028938 9047879 Ttn titin gene DOID:440 neuromuscular disease ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:26701604|PMID:28492532|PMID:29691892|PMID:31053406 9047879 Ttn titin gene DOID:5844 myocardial infarction ISO RGD:621114 D RGD:9068941 20200609 RGD PMID:12221049|REF_RGD_ID:1580780 9047879 Ttn titin gene DOID:6000 congestive heart failure ISO RGD:1605120 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure PMID:15802564|PMID:17344846|PMID:23396983|PMID:23486992|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24231549|PMID:24271327|PMID:24503780|PMID:24569025|PMID:24578547|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27194543|PMID:27843123|PMID:28256728|PMID:28492532|PMID:28771489|PMID:29361395 9047879 Ttn titin gene DOID:630 genetic disease ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10462489|PMID:11717165|PMID:12145747|PMID:12669942|PMID:17444505|PMID:1745277|PMID:18948003|PMID:21617319|PMID:21810661|PMID:22335739|PMID:23396983|PMID:23418287|PMID:23518707|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24105469|PMID:24395473|PMID:24503780|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26581302|PMID:26701604|PMID:27532257|PMID:27588451|PMID:27869827|PMID:27930701|PMID:28492532|PMID:28771489|PMID:29540472|PMID:30535219|PMID:30985088|PMID:31795264|PMID:31983221|PMID:32746448|PMID:32964742|PMID:33449170|PMID:33874732|PMID:34315225|PMID:36264615 9047879 Ttn titin gene DOID:9000006 Supraventricular Tachycardia ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24271327|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28600387|PMID:28606400 9047879 Ttn titin gene DOID:9000184 Ventricular Fibrillation ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23396983|PMID:23861362|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532 9047879 Ttn titin gene DOID:9000299 cardiac amyloidosis ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:23861362|PMID:25741868|PMID:28492532 9047879 Ttn titin gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:18948003|PMID:22335739|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26467025|PMID:26735901|PMID:27869827|PMID:28295036|PMID:28492532|PMID:32528171|PMID:32659924|PMID:32778822|PMID:32880476|PMID:32964742|PMID:33449170|PMID:33874732|PMID:34106991|PMID:34540771|PMID:35653365 9047879 Ttn titin gene DOID:9000727 Syncope ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:24033266|PMID:25741868 9047879 Ttn titin gene DOID:9001276 Failure to Thrive ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 9047879 Ttn titin gene DOID:9001512 Familial Amyloid Polyneuropathies ISO RGD:1605120 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:23861362|PMID:25741868|PMID:28492532 9047879 Ttn titin gene DOID:9002521 Left Ventricular Noncompaction 2 ISO RGD:1605120 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 2 PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532 9047879 Ttn titin gene DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17344846|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27588451|PMID:27854218|PMID:28492532|PMID:29099038|PMID:30985088|PMID:31481236|PMID:31795264 9047879 Ttn titin gene DOID:9003163 Heart Block ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:25741868 9047879 Ttn titin gene DOID:9003631 Diastolic Dysfunction ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diastolic dysfunction 9047879 Ttn titin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1605120 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221 9047879 Ttn titin gene DOID:9005141 Ventricular Tachycardia ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:17344846|PMID:18414213|PMID:23396983|PMID:23675308|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26597493|PMID:27066551|PMID:28492532|PMID:28822653|PMID:29221435 9047879 Ttn titin gene DOID:9005532 Muscle Weakness ISO RGD:1605120 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17444505 9047879 Ttn titin gene DOID:9005603 Muscle Hypotonia ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: poor muscle tone PMID:23861362|PMID:24033266|PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 9047879 Ttn titin gene DOID:9007 sudden infant death syndrome ISO RGD:1605120 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:17344846|PMID:22335739|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30471092|PMID:30535219|PMID:34088380|PMID:35027292 9047879 Ttn titin gene DOID:9007033 Ventricular Premature Complexes ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ventricular contraction PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28831623 9047879 Ttn titin gene DOID:9007102 Myocardial Ischemia ISO RGD:621114 D RGD:9068941 20200609 RGD PMID:12221049|REF_RGD_ID:1580780 9047879 Ttn titin gene DOID:9007661 Dwarfism ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 9047879 Ttn titin gene DOID:9007925 Sudden Cardiac Death ISO RGD:1605120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death PMID:19608031|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 9047879 Ttn titin gene DOID:92 speech disorder ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Speech disorder PMID:23861362|PMID:24033266|PMID:24459294|PMID:25741868|PMID:26272908|PMID:26467025|PMID:26498160|PMID:28492532|PMID:28750076|PMID:29961767 9047879 Ttn titin gene DOID:9651 systolic heart failure ISO RGD:1605120 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Systolic heart failure PMID:23861362|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532 9047879 Ttn titin gene DOID:988 mitral valve prolapse ISO RGD:1605120 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:35653365|PMID:36264615 9047879 Ttn titin gene DOID:9884 muscular dystrophy ISO RGD:1605120 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Muscular dystrophy PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822|PMID:34553419|PMID:34935411 9048215 Cct8 chaperonin containing TCP1 subunit 8 gene DOID:0080600 COVID-19 ISO RGD:1313488 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9048215 Cct8 chaperonin containing TCP1 subunit 8 gene DOID:630 genetic disease ISO RGD:1313488 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048252 C1qbp complement C1q binding protein gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1342690 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 9048252 C1qbp complement C1q binding protein gene DOID:0111495 combined oxidative phosphorylation deficiency 33 ISO RGD:1342690 D RGD:7240710 20190315 OMIM 9048252 C1qbp complement C1q binding protein gene DOID:0111495 combined oxidative phosphorylation deficiency 33 ISO RGD:1342690 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 33 PMID:28492532|PMID:28942965|PMID:32652806|PMID:34003581 9048252 C1qbp complement C1q binding protein gene DOID:630 genetic disease ISO RGD:1342690 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9048252 C1qbp complement C1q binding protein gene DOID:9008939 Breast Neoplasms ISO RGD:1342690 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 9048262 Klhl30 kelch like family member 30 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1606872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9048262 Klhl30 kelch like family member 30 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1606872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9048262 Klhl30 kelch like family member 30 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1606872 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 9048262 Klhl30 kelch like family member 30 gene DOID:1059 intellectual disability ISO RGD:1606872 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9048262 Klhl30 kelch like family member 30 gene DOID:630 genetic disease ISO RGD:1606872 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048262 Klhl30 kelch like family member 30 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1606872 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9048278 Rap2c RAP2C, member of RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9048278 Rap2c RAP2C, member of RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1353605 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9048285 Scnn1d sodium channel epithelial 1 subunit delta gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9048285 Scnn1d sodium channel epithelial 1 subunit delta gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1346343 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 9048285 Scnn1d sodium channel epithelial 1 subunit delta gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9048285 Scnn1d sodium channel epithelial 1 subunit delta gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 9048285 Scnn1d sodium channel epithelial 1 subunit delta gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 9048285 Scnn1d sodium channel epithelial 1 subunit delta gene DOID:0110994 Joubert syndrome 25 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9048285 Scnn1d sodium channel epithelial 1 subunit delta gene DOID:0111934 immunodeficiency 38 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9048285 Scnn1d sodium channel epithelial 1 subunit delta gene DOID:0111935 immunodeficiency 16 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9048285 Scnn1d sodium channel epithelial 1 subunit delta gene DOID:630 genetic disease ISO RGD:1346343 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048285 Scnn1d sodium channel epithelial 1 subunit delta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9048285 Scnn1d sodium channel epithelial 1 subunit delta gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1346343 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9048285 Scnn1d sodium channel epithelial 1 subunit delta gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1346343 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9048307 Zc3h10 zinc finger CCCH-type containing 10 gene DOID:4195 hyperglycemia ISO RGD:1602996 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31775033 9048307 Zc3h10 zinc finger CCCH-type containing 10 gene DOID:630 genetic disease ISO RGD:1602996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048307 Zc3h10 zinc finger CCCH-type containing 10 gene DOID:9007692 Insulin Resistance ISO RGD:1602996 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31775033 9048307 Zc3h10 zinc finger CCCH-type containing 10 gene DOID:9970 obesity ISO RGD:1602996 D RGD:9068941 20210212 CTD CTD Direct Evidence: therapeutic PMID:31775033 9048317 Sgms1 sphingomyelin synthase 1 gene DOID:11372 megacolon ISO RGD:1352309 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9048317 Sgms1 sphingomyelin synthase 1 gene DOID:11396 pulmonary edema ISO RGD:727912 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:12353928|REF_RGD_ID:1302423 9048317 Sgms1 sphingomyelin synthase 1 gene DOID:630 genetic disease ISO RGD:1352309 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048370 Map2 microtubule associated protein 2 gene DOID:10652 Alzheimer's disease ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:22083255|REF_RGD_ID:6483322 9048370 Map2 microtubule associated protein 2 gene DOID:11088 asphyxia neonatorum ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:21858873|REF_RGD_ID:6483085 9048370 Map2 microtubule associated protein 2 gene DOID:11294 arteriovenous malformation ISO RGD:3044 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:20873448|REF_RGD_ID:6483324 9048370 Map2 microtubule associated protein 2 gene DOID:11446 sciatic neuropathy ISO RGD:3044 D RGD:9068941 20200609 RGD protein:decrease expression:dorsal root ganglion PMID:21933624|REF_RGD_ID:6483083 9048370 Map2 microtubule associated protein 2 gene DOID:1206 Rett syndrome ISO RGD:733668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868 9048370 Map2 microtubule associated protein 2 gene DOID:12217 Lewy body dementia ISO RGD:733668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 9048370 Map2 microtubule associated protein 2 gene DOID:12217 Lewy body dementia ISO RGD:733668 D RGD:9068941 20200609 RGD PMID:20024519|REF_RGD_ID:6483091 9048370 Map2 microtubule associated protein 2 gene DOID:12858 Huntington's disease ISO RGD:733668 D RGD:9068941 20200609 RGD PMID:20092829|REF_RGD_ID:6483090 9048370 Map2 microtubule associated protein 2 gene DOID:14330 Parkinson's disease ISO RGD:733668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30236862 9048370 Map2 microtubule associated protein 2 gene DOID:14557 primary pulmonary hypertension ISO RGD:733668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 9048370 Map2 microtubule associated protein 2 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:733668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 9048370 Map2 microtubule associated protein 2 gene DOID:2316 brain ischemia ISO RGD:3044 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21948028|REF_RGD_ID:6483082 9048370 Map2 microtubule associated protein 2 gene DOID:3328 temporal lobe epilepsy ISO RGD:3044 D RGD:9068941 20200609 RGD protein:decreased expression:brain PMID:22265658|REF_RGD_ID:6483080 9048370 Map2 microtubule associated protein 2 gene DOID:3526 cerebral infarction ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:22444278|REF_RGD_ID:6483079 9048370 Map2 microtubule associated protein 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:733669 D RGD:9068941 20200609 RGD PMID:19966940|REF_RGD_ID:6483319 9048370 Map2 microtubule associated protein 2 gene DOID:5419 schizophrenia ISO RGD:733668 D RGD:9068941 20200609 RGD PMID:20092829|REF_RGD_ID:6483090 9048370 Map2 microtubule associated protein 2 gene DOID:630 genetic disease ISO RGD:733668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048370 Map2 microtubule associated protein 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:733668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9048370 Map2 microtubule associated protein 2 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:21704982|REF_RGD_ID:6483323 9048370 Map2 microtubule associated protein 2 gene DOID:9000998 Brain Injuries ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:20568963|REF_RGD_ID:6483089 9048370 Map2 microtubule associated protein 2 gene DOID:9000998 Brain Injuries ISO RGD:3044 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, neuron PMID:21401443|REF_RGD_ID:6483087 9048370 Map2 microtubule associated protein 2 gene DOID:9003281 Spontaneous Abortions ISO RGD:733668 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9048370 Map2 microtubule associated protein 2 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:3044 D RGD:9068941 20200609 RGD PMID:21300124|REF_RGD_ID:6483088 9048370 Map2 microtubule associated protein 2 gene DOID:9004009 Reperfusion Injury ISO RGD:3044 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21948028|REF_RGD_ID:6483082 9048370 Map2 microtubule associated protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9048370 Map2 microtubule associated protein 2 gene DOID:9005930 Endotoxemia ISO RGD:733669 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:neuron PMID:21421895|REF_RGD_ID:6483086 9048400 Trmt10b tRNA methyltransferase 10B gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9048400 Trmt10b tRNA methyltransferase 10B gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1321812 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9048400 Trmt10b tRNA methyltransferase 10B gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9048400 Trmt10b tRNA methyltransferase 10B gene DOID:630 genetic disease ISO RGD:1321812 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048400 Trmt10b tRNA methyltransferase 10B gene DOID:9562 primary ciliary dyskinesia ISO RGD:1321812 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9048400 Trmt10b tRNA methyltransferase 10B gene DOID:9870 galactosemia ISO RGD:1321812 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9048436 Hsdl2 hydroxysteroid dehydrogenase like 2 gene DOID:630 genetic disease ISO RGD:1350650 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048436 Hsdl2 hydroxysteroid dehydrogenase like 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1350650 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 9048467 Rnf185 ring finger protein 185 gene DOID:630 genetic disease ISO RGD:1602840 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048485 Stk36 serine/threonine kinase 36 gene DOID:0080092 myofibrillar myopathy 1 ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:28492532 9048485 Stk36 serine/threonine kinase 36 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 9048485 Stk36 serine/threonine kinase 36 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 9048485 Stk36 serine/threonine kinase 36 gene DOID:10908 hydrocephalus ISO RGD:1550700 D RGD:9068941 20220825 MouseDO OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219 9048485 Stk36 serine/threonine kinase 36 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 9048485 Stk36 serine/threonine kinase 36 gene DOID:630 genetic disease ISO RGD:1316442 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9048485 Stk36 serine/threonine kinase 36 gene DOID:9001692 Primary Ciliary Dyskinesia 46 ISO RGD:1316442 D RGD:7240710 20210728 OMIM 9048485 Stk36 serine/threonine kinase 36 gene DOID:9001692 Primary Ciliary Dyskinesia 46 ISO RGD:1316442 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 46 | ClinVar Annotator: match by term: STK36-related condition PMID:25741868|PMID:28492532|PMID:28543983 9048485 Stk36 serine/threonine kinase 36 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9048485 Stk36 serine/threonine kinase 36 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1316442 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 9048523 Ccdc174 coiled-coil domain containing 174 gene DOID:0060417 3p deletion syndrome ISO RGD:1348248 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 9048523 Ccdc174 coiled-coil domain containing 174 gene DOID:630 genetic disease ISO RGD:1348248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9048523 Ccdc174 coiled-coil domain containing 174 gene DOID:9001343 Infantile Hypotonia with Psychomotor Retardation ISO RGD:1348248 D RGD:7240710 20190315 OMIM 9048523 Ccdc174 coiled-coil domain containing 174 gene DOID:9001343 Infantile Hypotonia with Psychomotor Retardation ISO RGD:1348248 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation PMID:25741868|PMID:26358778|PMID:28492532 9048541 Sh3rf1 SH3 domain containing ring finger 1 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:1348094 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:22499340|PMID:28492532|PMID:29068549 9048541 Sh3rf1 SH3 domain containing ring finger 1 gene DOID:630 genetic disease ISO RGD:1348094 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048541 Sh3rf1 SH3 domain containing ring finger 1 gene DOID:8466 retinal degeneration ISO RGD:735154 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 9048541 Sh3rf1 SH3 domain containing ring finger 1 gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:735154 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 9048564 Fndc11 fibronectin type III domain containing 11 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 9048564 Fndc11 fibronectin type III domain containing 11 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1601971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 9048564 Fndc11 fibronectin type III domain containing 11 gene DOID:0070022 autosomal recessive dyskeratosis congenita 5 ISO RGD:1601971 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 9048564 Fndc11 fibronectin type III domain containing 11 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9048564 Fndc11 fibronectin type III domain containing 11 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1601971 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 9048564 Fndc11 fibronectin type III domain containing 11 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14534157|PMID:19822871|PMID:23360469|PMID:23453664|PMID:23692823|PMID:23959892|PMID:24811917|PMID:25052858|PMID:25607374|PMID:25921748|PMID:27779742|PMID:28492532|PMID:29215089|PMID:30866059 9048564 Fndc11 fibronectin type III domain containing 11 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1601971 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 9048564 Fndc11 fibronectin type III domain containing 11 gene DOID:630 genetic disease ISO RGD:1601971 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048564 Fndc11 fibronectin type III domain containing 11 gene DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 ISO RGD:1601971 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 PMID:14534157|PMID:19822871|PMID:23453664|PMID:23692823|PMID:23959892|PMID:25607374|PMID:27779742|PMID:28492532 9048590 LOC102012872 olfactory receptor 1I1 gene DOID:630 genetic disease ISO RGD:1350140 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048593 Cfap92 cilia and flagella associated protein 92 (putative) gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1603021 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:16199547|PMID:20929961|PMID:21057504|PMID:22499348|PMID:25721401|PMID:25741868|PMID:28492532|PMID:30025539 9048593 Cfap92 cilia and flagella associated protein 92 (putative) gene DOID:0110159 Charcot-Marie-Tooth disease type 2B ISO RGD:1603021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B PMID:28492532 9048593 Cfap92 cilia and flagella associated protein 92 (putative) gene DOID:0111947 immunodeficiency 21 ISO RGD:1603021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 9048593 Cfap92 cilia and flagella associated protein 92 (putative) gene DOID:0112072 nuclear type mitochondrial complex I deficiency 20 ISO RGD:1603021 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency PMID:16199547|PMID:17576681|PMID:20929961|PMID:21057504|PMID:22499348|PMID:25326637|PMID:25721401|PMID:25741868|PMID:27233227|PMID:28492532|PMID:30025539|PMID:30831263|PMID:32746448|PMID:9536098 9048593 Cfap92 cilia and flagella associated protein 92 (putative) gene DOID:630 genetic disease ISO RGD:1603021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326637|PMID:25741868|PMID:27233227|PMID:28492532|PMID:30831263 9048593 Cfap92 cilia and flagella associated protein 92 (putative) gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1603021 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532 9048593 Cfap92 cilia and flagella associated protein 92 (putative) gene DOID:9270 alkaptonuria ISO RGD:1603021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9048631 Cd8a CD8 subunit alpha gene DOID:0050185 erythema multiforme susceptibility ISO RGD:735285 D RGD:9068941 20210326 RGD associated with adult T-cell leukemia;mRNA:increased expression:blood (human) PMID:32433748|REF_RGD_ID:124715447 9048631 Cd8a CD8 subunit alpha gene DOID:0080600 COVID-19 ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:increased expression:epithelium of nasopharynx (human) PMID:32898168|REF_RGD_ID:124715451 9048631 Cd8a CD8 subunit alpha gene DOID:0080600 COVID-19 exacerbates ISO RGD:10317 D RGD:9068941 20210326 RGD protein:increased expression:blood, T cell (mouse) PMID:32991819|REF_RGD_ID:124715452 9048631 Cd8a CD8 subunit alpha gene DOID:0080600 COVID-19 severity ISO RGD:735285 D RGD:9068941 20200618 RGD protein:decreased expression:serum, lung, T cell (human) PMID:32427582|REF_RGD_ID:30309200 9048631 Cd8a CD8 subunit alpha gene DOID:0081292 traumatic brain injury ISO RGD:10317 D RGD:9068941 20210326 RGD mRNA:increased expression:brain (mouse) PMID:31383034|REF_RGD_ID:124715446 9048631 Cd8a CD8 subunit alpha gene DOID:1024 leprosy exacerbates ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:increased expression:blood (human) PMID:31784594|REF_RGD_ID:124715449 9048631 Cd8a CD8 subunit alpha gene DOID:10534 stomach cancer ISO RGD:735285 D RGD:9068941 20210326 RGD associated with Epstein-Barr Virus Infections;mRNA:increased expression:stomach (human) PMID:29915957|REF_RGD_ID:124715442 9048631 Cd8a CD8 subunit alpha gene DOID:10534 stomach cancer ameliorates ISO RGD:735285 D RGD:9068941 20210326 RGD protein:decreased expression:stomach, T cell (human) PMID:30106451|REF_RGD_ID:124715443 9048631 Cd8a CD8 subunit alpha gene DOID:11168 anogenital venereal wart ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:decreased expression:zone of skin (human) PMID:25774455|REF_RGD_ID:36174028 9048631 Cd8a CD8 subunit alpha gene DOID:11573 listeriosis disease_progression ISO RGD:10317 D RGD:9068941 20210326 RGD protein:increased expression:liver (mouse) PMID:20348006|REF_RGD_ID:124715456 9048631 Cd8a CD8 subunit alpha gene DOID:11573 listeriosis exacerbates ISO RGD:10317 D RGD:9068941 20210326 RGD protein:decreased expression:spleen, liver (mouse) PMID:2120126|REF_RGD_ID:124715458 9048631 Cd8a CD8 subunit alpha gene DOID:2938 Epstein-Barr virus infectious disease ISO RGD:735285 D RGD:9068941 20210326 RGD associated with stomach cancer;mRNA:increased expression:stomach (human) PMID:29155997|REF_RGD_ID:124715448 9048631 Cd8a CD8 subunit alpha gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17950725 9048631 Cd8a CD8 subunit alpha gene DOID:3454 brain infarction ISO RGD:2316 D RGD:9068941 20230527 RGD mRNA:increased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 9048631 Cd8a CD8 subunit alpha gene DOID:399 tuberculosis ISO RGD:735285 D RGD:9068941 20210326 RGD associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human) PMID:27553407|REF_RGD_ID:124715445 9048631 Cd8a CD8 subunit alpha gene DOID:399 tuberculosis susceptibility ISO RGD:735285 D RGD:9068941 20210326 RGD mRNA:decreased expression:blood (human) PMID:26725873|REF_RGD_ID:124715450 9048631 Cd8a CD8 subunit alpha gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:735285 D RGD:9068941 20210326 RGD PMID:29384862|REF_RGD_ID:124715453 9048631 Cd8a CD8 subunit alpha gene DOID:576 proteinuria ISO RGD:10317 D RGD:9068941 20210326 RGD associated with Protozoan Infections, Animal;protein:increased expression:kidney (mouse) PMID:9713350|REF_RGD_ID:124715441 9048631 Cd8a CD8 subunit alpha gene DOID:630 genetic disease ISO RGD:735285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9048631 Cd8a CD8 subunit alpha gene DOID:8469 influenza ISO RGD:10317 D RGD:9068941 20210326 RGD protein:altered expression:lung, T cell (mouse) PMID:28355204|REF_RGD_ID:124715455 9048631 Cd8a CD8 subunit alpha gene DOID:8566 herpes simplex ISO RGD:10317 D RGD:9068941 20210326 RGD mRNA:increased expression:trigeminal ganglion (mouse) PMID:19151393|REF_RGD_ID:124715454 9048631 Cd8a CD8 subunit alpha gene DOID:9000469 Viral Myocarditis ISO RGD:10317 D RGD:9068941 20210326 RGD associated with Coxsackievirus Infections;protein:increased expression:myocardium (mouse) PMID:17113076|REF_RGD_ID:124715457 9048631 Cd8a CD8 subunit alpha gene DOID:9003281 Spontaneous Abortions ISO RGD:735285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9048631 Cd8a CD8 subunit alpha gene DOID:9006771 Chronic Rhinosinusitis ameliorates ISO RGD:735285 D RGD:9068941 20210326 RGD protein:decreased expression:blood, T cell (human) PMID:24639246|REF_RGD_ID:124715444 9048631 Cd8a CD8 subunit alpha gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:735285 D RGD:7240710 20180130 OMIM 9048631 Cd8a CD8 subunit alpha gene DOID:9006804 CD8 Deficiency, Familial ISO RGD:735285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cd8 deficiency, familial PMID:11435463|PMID:16199547|PMID:17576681|PMID:17658607|PMID:21546492|PMID:24033266|PMID:25741868|PMID:26563160|PMID:28492532|PMID:9536098 9048651 Plekho2 pleckstrin homology domain containing O2 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1601963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 9048651 Plekho2 pleckstrin homology domain containing O2 gene DOID:2717 Bloom syndrome ISO RGD:1601963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9048651 Plekho2 pleckstrin homology domain containing O2 gene DOID:630 genetic disease ISO RGD:1601963 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048651 Plekho2 pleckstrin homology domain containing O2 gene DOID:9256 colorectal cancer ISO RGD:1601963 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:0060180 colitis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15821759 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:0080821 exercise-induced bronchoconstriction ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:10984370|REF_RGD_ID:4890423 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:10247 pleurisy ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:9109363|REF_RGD_ID:4890429 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:10459 common cold ISO RGD:732775 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:11865407|REF_RGD_ID:4890421 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:10762 portal hypertension ISO RGD:2096 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Experimental PMID:11832453|REF_RGD_ID:1626153 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:10763 hypertension ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:16331105|REF_RGD_ID:1626151 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:11396 pulmonary edema ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:8111595|REF_RGD_ID:4890432 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:11664 nephrosclerosis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30818366 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:1184 nephrotic syndrome ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19194550|REF_RGD_ID:2317535 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:14319 pleuropneumonia ISO RGD:10147 D RGD:9068941 20200609 RGD PMID:12773506|REF_RGD_ID:4890419 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:1555 urticaria ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:1793 pancreatic cancer ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:12481414|REF_RGD_ID:2317523 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:1793 pancreatic cancer ISO RGD:732775 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12163367|REF_RGD_ID:2317524 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:1793 pancreatic cancer ISO RGD:732775 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:1936 atherosclerosis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16698924 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:2316 brain ischemia ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:20204486|REF_RGD_ID:2317525 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:2349 arteriosclerosis ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:14702425|REF_RGD_ID:734559 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma ISO RGD:732775 D RGD:7240710 20240313 OMIM 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma no_association ISO RGD:732775 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter (human) PMID:12911785|PMID:20128419|REF_RGD_ID:4890407|REF_RGD_ID:5147465 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma severity ISO RGD:732775 D RGD:9068941 20200609 RGD DNA:repeat:promoter (human) PMID:16364163|REF_RGD_ID:4890415 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:2841 asthma treatment ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:10369259|REF_RGD_ID:734557 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:732775 D RGD:9068941 20200609 RGD DNA:polymorphism, repeat:promoter, exon:g.760G>A (human) PMID:18174194|REF_RGD_ID:4890411 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:299 adenocarcinoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:3007 breast ductal carcinoma ISO RGD:732775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:3021 acute kidney failure ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19194548|REF_RGD_ID:2317536 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:3525 middle cerebral artery infarction ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19309543 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:3627 aortic aneurysm ISO RGD:10147 D RGD:9068941 20200609 RGD PMID:17182931|REF_RGD_ID:1626150 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:3770 pulmonary fibrosis ISO RGD:732775 D RGD:9068941 20200609 RGD protein:altered localization:alveolar macrophage, nuclear membrane PMID:8621765|REF_RGD_ID:4890430 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:3910 lung adenocarcinoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:4450 renal cell carcinoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:4947 cholangiocarcinoma ISO RGD:732775 D RGD:9068941 20200609 RGD protein:increased expression:bile duct PMID:18507031|REF_RGD_ID:2317521 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:630 genetic disease ISO RGD:732775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:14981588 D RGD:9068941 20200609 RGD PMID:31462075|REF_RGD_ID:14975304 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:14981589 D RGD:9068941 20200609 RGD PMID:31462075|REF_RGD_ID:14975304 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:14726295|PMID:8647941|REF_RGD_ID:4890418|REF_RGD_ID:734558 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14726295 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:732775 D RGD:9068941 20200609 RGD protein:increased expression:artery PMID:9445303|REF_RGD_ID:1626154 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension ISO RGD:735373 D RGD:9068941 20200609 RGD PMID:31462075|REF_RGD_ID:14975304 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:6432 pulmonary hypertension treatment ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:31462075|REF_RGD_ID:14975304 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:657 adenoma ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18927292 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:7148 rheumatoid arthritis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:850 lung disease ISO RGD:10147 D RGD:9068941 20200609 RGD Acute Lung Injury PMID:17118201|REF_RGD_ID:4890414 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:850 lung disease ISO RGD:10147 D RGD:9068941 20200609 RGD Ventilator-Induced Lung Injury PMID:15894604|REF_RGD_ID:4890417 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:8552 chronic myeloid leukemia ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19503090|PMID:19823023 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:8719 in situ carcinoma ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:16024599|REF_RGD_ID:2317522 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9000076 Closed Fractures ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19544365 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9000217 Stomach Neoplasms ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061081 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9000641 Pain ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19580807|REF_RGD_ID:2317533 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9000965 Neoplasm Metastasis ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061081 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10147 D RGD:9068941 20200609 RGD PMID:20231413|REF_RGD_ID:4890435 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9002211 Hyperalgesia ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12582831 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9002304 Prostatic Neoplasms ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9002589 Bone Fractures ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19884440|REF_RGD_ID:2317529 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9002762 Ovarian Neoplasms ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9002906 Multiple Organ Failure ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15241586 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9002928 Colonic Neoplasms ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14569062|PMID:18927292|PMID:30258081 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30258081 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:19816089|REF_RGD_ID:2317531 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:2096 D RGD:9068941 20200609 RGD protein:increased expression:cerebral hemisphere PMID:14769366|REF_RGD_ID:1626152 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9004009 Reperfusion Injury ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15266012 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9004271 Colonic Polyps ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18927292 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20061081 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9005236 Drug Eruptions ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16502481 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:10147 D RGD:9068941 20200609 RGD PMID:1386887|REF_RGD_ID:4890433 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9005372 Inflammation ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:1386887|REF_RGD_ID:4890433 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9005930 Endotoxemia ISO RGD:732775 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15328337 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9007480 Hyperoxia ISO RGD:2096 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:12490039|REF_RGD_ID:4890420 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:20011686|REF_RGD_ID:2317527 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:732775 D RGD:9068941 20200609 RGD PMID:16677242|REF_RGD_ID:5147463 9048669 Alox5 arachidonate 5-lipoxygenase gene DOID:9008604 Radiation Pneumonitis ISO RGD:2096 D RGD:9068941 20200609 RGD PMID:1886988|REF_RGD_ID:4890434 9048694 St3gal1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 gene DOID:630 genetic disease ISO RGD:1603709 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048694 St3gal1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 gene DOID:9006549 Enterovirus Infections ISO RGD:1603709 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 9048711 Otop3 otopetrin 3 gene DOID:630 genetic disease ISO RGD:1315404 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048722 Gja1 gap junction protein alpha 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:10649 D RGD:9068941 20230420 RGD protein:decreased expression:cardiac ventricle (mouse) PMID:27412010|REF_RGD_ID:265253172 9048722 Gja1 gap junction protein alpha 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736925 D RGD:9068941 20200609 RGD protein:altered expression:ventricle PMID:23178689|REF_RGD_ID:11352402 9048722 Gja1 gap junction protein alpha 1 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:736925 D RGD:9068941 20200609 RGD protein:decreased expression:buccal mucosa PMID:26850880|REF_RGD_ID:13592599 9048722 Gja1 gap junction protein alpha 1 gene DOID:0050467 erythrokeratodermia variabilis ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:mutations:cds:p.E227D,p.A44V(human) PMID:25398053|REF_RGD_ID:11568612 9048722 Gja1 gap junction protein alpha 1 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:2690 D RGD:9068941 20200609 RGD protein:decreased expression:epithelium PMID:23568744|REF_RGD_ID:8662380 9048722 Gja1 gap junction protein alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased localization:lateral plasma membrane, cardiac muscle cell PMID:11527649|REF_RGD_ID:7207850 9048722 Gja1 gap junction protein alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:736925 D RGD:9068941 20200609 RGD associated with Rheumatic Diseases;protein:decreased expression:myocardium of atrium PMID:16953110|REF_RGD_ID:8662373 9048722 Gja1 gap junction protein alpha 1 gene DOID:0060224 atrial fibrillation ISO RGD:736925 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium of atrium PMID:12062341|REF_RGD_ID:8662382 9048722 Gja1 gap junction protein alpha 1 gene DOID:0060224 atrial fibrillation susceptibility ISO RGD:10649 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G60S(mouse) PMID:21239638|REF_RGD_ID:12910123 9048722 Gja1 gap junction protein alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:736925 D RGD:7240710 20180130 OMIM 9048722 Gja1 gap junction protein alpha 1 gene DOID:0060291 oculodentodigital dysplasia ISO RGD:736925 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia PMID:10331943|PMID:1057461|PMID:11470490|PMID:12457340|PMID:14729836|PMID:15108203|PMID:15192806|PMID:15551259|PMID:15637728|PMID:15879313|PMID:16531323|PMID:16709485|PMID:17256797|PMID:17901047|PMID:18003637|PMID:18079109|PMID:18946008|PMID:19057520|PMID:19338053|PMID:19638688|PMID:21215473|PMID:21670345|PMID:22090377|PMID:220941|PMID:22179534|PMID:2309863|PMID:23103513|PMID:23304551|PMID:23465283|PMID:23550541|PMID:24115525|PMID:25327171|PMID:25388818|PMID:25741868|PMID:27226478|PMID:28492532|PMID:30628995|PMID:32318302|PMID:33080786|PMID:34630166|PMID:35023121|PMID:4209752|PMID:7815444 9048722 Gja1 gap junction protein alpha 1 gene DOID:0070210 hereditary lymphedema IA ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Edema of the dorsum of feet PMID:25741868 9048722 Gja1 gap junction protein alpha 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA:increased expression:urinary bladder PMID:17855776|REF_RGD_ID:7207474 9048722 Gja1 gap junction protein alpha 1 gene DOID:0080249 erythrokeratodermia variabilis et progressiva 3 ISO RGD:736925 D RGD:7240710 20190315 OMIM 9048722 Gja1 gap junction protein alpha 1 gene DOID:0080249 erythrokeratodermia variabilis et progressiva 3 ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 PMID:25398053|PMID:28492532|PMID:30628963|PMID:30631135 9048722 Gja1 gap junction protein alpha 1 gene DOID:0080802 autosomal recessive craniometaphyseal dysplasia ISO RGD:736925 D RGD:7240710 20180130 OMIM 9048722 Gja1 gap junction protein alpha 1 gene DOID:0080802 autosomal recessive craniometaphyseal dysplasia ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive PMID:11146471|PMID:23951358|PMID:25741868|PMID:28492532 9048722 Gja1 gap junction protein alpha 1 gene DOID:0080855 Parkinsonism treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23783886|REF_RGD_ID:8662444 9048722 Gja1 gap junction protein alpha 1 gene DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 ISO RGD:736925 D RGD:7240710 20180130 OMIM 9048722 Gja1 gap junction protein alpha 1 gene DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant palmoplantar keratoderma and congenital alopecia PMID:12457340|PMID:15879313|PMID:25168385|PMID:25327171|PMID:25741868|PMID:28492532|PMID:30628995 9048722 Gja1 gap junction protein alpha 1 gene DOID:0111817 syndactyly type 3 ISO RGD:736925 D RGD:7240710 20180130 OMIM 9048722 Gja1 gap junction protein alpha 1 gene DOID:0111817 syndactyly type 3 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 3 PMID:11470490|PMID:14729836|PMID:15192806|PMID:18079109|PMID:21215473|PMID:2157843|PMID:22090377|PMID:22179534|PMID:23103513|PMID:23304551|PMID:23465283|PMID:25741868|PMID:28492532 9048722 Gja1 gap junction protein alpha 1 gene DOID:0111819 syndactyly type 5 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly type 5 9048722 Gja1 gap junction protein alpha 1 gene DOID:10629 microphthalmia ISO RGD:736925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bilateral microphthalmos PMID:25741868 9048722 Gja1 gap junction protein alpha 1 gene DOID:10763 hypertension ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:16448880|REF_RGD_ID:7207810 9048722 Gja1 gap junction protein alpha 1 gene DOID:10763 hypertension ISO RGD:736925 D RGD:9068941 20231207 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:16448880|PMID:36720419 9048722 Gja1 gap junction protein alpha 1 gene DOID:10763 hypertension treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23719203|REF_RGD_ID:8662439 9048722 Gja1 gap junction protein alpha 1 gene DOID:10914 amnestic disorder ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:22665389|REF_RGD_ID:7207267 9048722 Gja1 gap junction protein alpha 1 gene DOID:11193 syndactyly ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndactyly PMID:25741868|PMID:28492532 9048722 Gja1 gap junction protein alpha 1 gene DOID:11832 visual epilepsy ISO RGD:2690 D RGD:9068941 20220728 RGD PMID:14622215|REF_RGD_ID:1299355 9048722 Gja1 gap junction protein alpha 1 gene DOID:12577 urethral obstruction ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:smooth muscle cell: PMID:11900482|REF_RGD_ID:11568666 9048722 Gja1 gap junction protein alpha 1 gene DOID:12849 autistic disorder ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18435417 9048722 Gja1 gap junction protein alpha 1 gene DOID:12858 Huntington's disease ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:10873295|REF_RGD_ID:7207854 9048722 Gja1 gap junction protein alpha 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2690 D RGD:9068941 20230420 RGD protein:decreased expression:heart (rat) PMID:26708424|REF_RGD_ID:264347602 9048722 Gja1 gap junction protein alpha 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:12619876|REF_RGD_ID:1582667 9048722 Gja1 gap junction protein alpha 1 gene DOID:1591 renovascular hypertension ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:11422751|REF_RGD_ID:7207851 9048722 Gja1 gap junction protein alpha 1 gene DOID:1826 epilepsy ISO RGD:736925 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9048722 Gja1 gap junction protein alpha 1 gene DOID:1875 impotence ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:corpus cavernosum penis PMID:17146929|REF_RGD_ID:8662385 9048722 Gja1 gap junction protein alpha 1 gene DOID:224 transient cerebral ischemia ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:23328809|REF_RGD_ID:8662426 9048722 Gja1 gap junction protein alpha 1 gene DOID:224 transient cerebral ischemia treatment ISO RGD:10649 D RGD:9068941 20200609 RGD PMID:22812228|REF_RGD_ID:7207263 9048722 Gja1 gap junction protein alpha 1 gene DOID:2316 brain ischemia ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:21718970|REF_RGD_ID:6480433 9048722 Gja1 gap junction protein alpha 1 gene DOID:3070 high grade glioma ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:22808518|REF_RGD_ID:7207264 9048722 Gja1 gap junction protein alpha 1 gene DOID:326 ischemia ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased expression:urothelium: PMID:24728265|REF_RGD_ID:11568671 9048722 Gja1 gap junction protein alpha 1 gene DOID:3362 coronary aneurysm ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15548583 9048722 Gja1 gap junction protein alpha 1 gene DOID:3390 palmoplantar keratosis ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.23G>A,p.G8V(human) PMID:25168385|REF_RGD_ID:12910125 9048722 Gja1 gap junction protein alpha 1 gene DOID:5154 borna disease ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:18538309|REF_RGD_ID:7364785 9048722 Gja1 gap junction protein alpha 1 gene DOID:5844 myocardial infarction ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:22841862|REF_RGD_ID:7207262 9048722 Gja1 gap junction protein alpha 1 gene DOID:5844 myocardial infarction ISO RGD:2690 D RGD:9068941 20200609 RGD protein:decreased phosphorylation PMID:22969867|REF_RGD_ID:7207261 9048722 Gja1 gap junction protein alpha 1 gene DOID:5844 myocardial infarction treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:29428663|REF_RGD_ID:13592597 9048722 Gja1 gap junction protein alpha 1 gene DOID:630 genetic disease ISO RGD:736925 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11146276|PMID:12861055|PMID:15879313|PMID:22214631|PMID:25741868|PMID:26087145|PMID:28492532|PMID:8576861|PMID:8970160 9048722 Gja1 gap junction protein alpha 1 gene DOID:6419 tetralogy of Fallot ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:16010294|REF_RGD_ID:1582666 9048722 Gja1 gap junction protein alpha 1 gene DOID:6432 pulmonary hypertension ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA:increased expression:pulmonary artery PMID:21414209|REF_RGD_ID:7207411 9048722 Gja1 gap junction protein alpha 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23321332|REF_RGD_ID:8662411 9048722 Gja1 gap junction protein alpha 1 gene DOID:657 adenoma ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16926031 9048722 Gja1 gap junction protein alpha 1 gene DOID:7188 autoimmune thyroiditis ISO RGD:2690 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression, altered expression:thyroid gland: PMID:8770903|REF_RGD_ID:7349390 9048722 Gja1 gap junction protein alpha 1 gene DOID:784 chronic kidney disease ISO RGD:736925 D RGD:9068941 20200702 CTD CTD Direct Evidence: marker/mechanism PMID:32045570 9048722 Gja1 gap junction protein alpha 1 gene DOID:820 myocarditis ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:12619876|REF_RGD_ID:1582667 9048722 Gja1 gap junction protein alpha 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23403365|PMID:24183749|REF_RGD_ID:8662431|REF_RGD_ID:8662460 9048722 Gja1 gap junction protein alpha 1 gene DOID:9000064 Cardiac Arrhythmias ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18003637|PMID:18077386 9048722 Gja1 gap junction protein alpha 1 gene DOID:9000064 Cardiac Arrhythmias treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23951191|REF_RGD_ID:8662422 9048722 Gja1 gap junction protein alpha 1 gene DOID:9000918 Disease Progression ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29180066 9048722 Gja1 gap junction protein alpha 1 gene DOID:9000998 Brain Injuries treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23485053|REF_RGD_ID:8662424 9048722 Gja1 gap junction protein alpha 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9048722 Gja1 gap junction protein alpha 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:19077877|REF_RGD_ID:7207423 9048722 Gja1 gap junction protein alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23374942|REF_RGD_ID:8662456 9048722 Gja1 gap junction protein alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:736925 D RGD:9068941 20220707 CTD CTD Direct Evidence: marker/mechanism PMID:34286406 9048722 Gja1 gap junction protein alpha 1 gene DOID:9002211 Hyperalgesia treatment ISO RGD:2690 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:24631560|REF_RGD_ID:8662447 9048722 Gja1 gap junction protein alpha 1 gene DOID:9002213 Lymphatic Abnormalities ISO RGD:10649 D RGD:9068941 20200609 RGD PMID:27899284|REF_RGD_ID:13592598 9048722 Gja1 gap junction protein alpha 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 9048722 Gja1 gap junction protein alpha 1 gene DOID:9002457 Experimental Arthritis ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23165424|REF_RGD_ID:7207259 9048722 Gja1 gap junction protein alpha 1 gene DOID:9003139 Cardiac Fibrosis ISO RGD:2690 D RGD:9068941 20200609 RGD protein:decreased expression:myocardium PMID:23906405|REF_RGD_ID:8662459 9048722 Gja1 gap junction protein alpha 1 gene DOID:9004411 Atrioventricular Septal Defect and Common Atrioventricular Junction ISO RGD:736925 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect and common atrioventricular junction PMID:11470490|PMID:22090377|PMID:25741868|PMID:28492532|PMID:30653986 9048722 Gja1 gap junction protein alpha 1 gene DOID:9004464 Skin Neoplasms ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7586191 9048722 Gja1 gap junction protein alpha 1 gene DOID:9004538 Hearing Loss no_association ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:12791041|REF_RGD_ID:8662384 9048722 Gja1 gap junction protein alpha 1 gene DOID:9004610 Acute Lung Injury treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:23576849|REF_RGD_ID:8662452 9048722 Gja1 gap junction protein alpha 1 gene DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive ISO RGD:736925 D RGD:7240710 20200826 OMIM 9048722 Gja1 gap junction protein alpha 1 gene DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive ISO RGD:736925 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive PMID:11146471|PMID:11470490|PMID:12457340|PMID:14729836|PMID:14974090|PMID:14981729|PMID:15108203|PMID:15192806|PMID:15757815|PMID:15879313|PMID:16378922|PMID:16531323|PMID:16709485|PMID:16813608|PMID:16816024|PMID:17509830|PMID:17901047|PMID:18003637|PMID:18079109|PMID:18946008|PMID:19057520|PMID:19338053|PMID:19615768|PMID:19638688|PMID:20130915|PMID:21215473|PMID:21670345|PMID:22090377|PMID:22179534|PMID:2309863|PMID:23103513|PMID:23304551|PMID:23465283|PMID:23606748|PMID:23951358|PMID:24115525|PMID:24508941|PMID:25327171|PMID:25388818|PMID:25398053|PMID:25741868|PMID:26004348|PMID:26537360|PMID:27216975|PMID:27226478|PMID:28258662|PMID:28492532|PMID:29927410|PMID:30628963|PMID:30628995|PMID:30631135|PMID:30653986|PMID:30811667|PMID:31347275|PMID:32318302|PMID:32449269|PMID:34630166 9048722 Gja1 gap junction protein alpha 1 gene DOID:9004771 Vascular Remodeling ISO RGD:736925 D RGD:9068941 20231207 CTD CTD Direct Evidence: therapeutic PMID:36720419 9048722 Gja1 gap junction protein alpha 1 gene DOID:9005172 Lung Neoplasms ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15166089|PMID:16926031 9048722 Gja1 gap junction protein alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10649 D RGD:9068941 20200609 RGD protein:decreased expression:retina, blood vessel PMID:20130277|REF_RGD_ID:8662383 9048722 Gja1 gap junction protein alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2690 D RGD:9068941 20200609 RGD protein:altered expression:retina: PMID:22110070|REF_RGD_ID:7364887 9048722 Gja1 gap junction protein alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased expression:dermis PMID:22455314|REF_RGD_ID:7207269 9048722 Gja1 gap junction protein alpha 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2690 D RGD:9068941 20200609 RGD PMID:20609064|REF_RGD_ID:7207415 9048722 Gja1 gap junction protein alpha 1 gene DOID:9005856 Basaran Yilmaz Syndrome ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9048722 Gja1 gap junction protein alpha 1 gene DOID:9005968 Neuralgia ISO RGD:10649 D RGD:9068941 20200609 RGD associated with Spinal Cord Injuries; PMID:22951907|REF_RGD_ID:7364890 9048722 Gja1 gap junction protein alpha 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:736925 D RGD:9068941 20231207 CTD CTD Direct Evidence: therapeutic PMID:36720419 9048722 Gja1 gap junction protein alpha 1 gene DOID:9007136 Atrioventricular Septal Defect 3 ISO RGD:736925 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect 3 PMID:25741868 9048722 Gja1 gap junction protein alpha 1 gene DOID:9007292 Schwartz-Lelek Syndrome ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:missense mutation: :c.716G>A (p.R239Q) (human) PMID:23951358|REF_RGD_ID:8662399 9048722 Gja1 gap junction protein alpha 1 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17445419 9048722 Gja1 gap junction protein alpha 1 gene DOID:9007840 Chylothorax ISO RGD:10649 D RGD:9068941 20200609 RGD PMID:27899284|REF_RGD_ID:13592598 9048722 Gja1 gap junction protein alpha 1 gene DOID:9007925 Sudden Cardiac Death treatment ISO RGD:10649 D RGD:9068941 20200609 RGD PMID:22093512|REF_RGD_ID:12910124 9048722 Gja1 gap junction protein alpha 1 gene DOID:9007966 Nonsyndromic Sensorineural Hearing Loss ISO RGD:736925 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.30C>T,c.71T>G(human) PMID:11741837|REF_RGD_ID:1578475 9048722 Gja1 gap junction protein alpha 1 gene DOID:9008212 Diabetic Foot ISO RGD:736925 D RGD:9068941 20200609 RGD protein:increased expression:dermis PMID:22455314|REF_RGD_ID:7207269 9048722 Gja1 gap junction protein alpha 1 gene DOID:9008939 Breast Neoplasms ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29180066 9048722 Gja1 gap junction protein alpha 1 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:736925 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16292552|PMID:16720372 9048722 Gja1 gap junction protein alpha 1 gene DOID:9009087 Hypoplastic Left Heart Syndrome 1 ISO RGD:736925 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 PMID:11470490|PMID:15192806|PMID:18079109|PMID:21215473|PMID:22090377|PMID:22179534|PMID:23103513|PMID:23304551|PMID:23465283|PMID:25741868|PMID:28492532 9048722 Gja1 gap junction protein alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:2690 D RGD:9068941 20200609 RGD protein:increased phosphorylation:kidney PMID:21573906|REF_RGD_ID:7207393 9048722 Gja1 gap junction protein alpha 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:736925 D RGD:9068941 20200609 RGD PMID:11470490|REF_RGD_ID:1582668 9048727 Mybpc2 myosin binding protein C2 gene DOID:630 genetic disease ISO RGD:1323136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048727 Mybpc2 myosin binding protein C2 gene DOID:9006836 Contracture ISO RGD:1323136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Contractures PMID:26752647 9048762 Zfhx2 zinc finger homeobox 2 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1351762 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 9048762 Zfhx2 zinc finger homeobox 2 gene DOID:0081075 Marsili syndrome ISO RGD:1351762 D RGD:7240710 20200311 OMIM 9048762 Zfhx2 zinc finger homeobox 2 gene DOID:0081075 Marsili syndrome ISO RGD:1351762 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant PMID:25741868|PMID:29253101 9048762 Zfhx2 zinc finger homeobox 2 gene DOID:630 genetic disease ISO RGD:1351762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048762 Zfhx2 zinc finger homeobox 2 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1351762 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 9048762 Zfhx2 zinc finger homeobox 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1351762 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9048784 Btnl2 butyrophilin like 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1353557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9048784 Btnl2 butyrophilin like 2 gene DOID:10322 berylliosis ISO RGD:1353557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17927685 9048784 Btnl2 butyrophilin like 2 gene DOID:10322 berylliosis susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNP: :rs3117099(human) PMID:17927685|REF_RGD_ID:9685029 9048784 Btnl2 butyrophilin like 2 gene DOID:11335 sarcoidosis ISO RGD:1353557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sarcoidosis, susceptibility to, 2 PMID:15735647 9048784 Btnl2 butyrophilin like 2 gene DOID:11335 sarcoidosis susceptibility ISO RGD:1353557 D RGD:7240710 20190502 OMIM 9048784 Btnl2 butyrophilin like 2 gene DOID:12361 Graves' disease onset ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNP: :rs17577980(human) PMID:24684463|REF_RGD_ID:9685042 9048784 Btnl2 butyrophilin like 2 gene DOID:13378 Kawasaki disease susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNP: :rs 1555115(human) PMID:19882345|REF_RGD_ID:9685030 9048784 Btnl2 butyrophilin like 2 gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD associated with Mucocutaneous Lymph Node Syndrome; DNA:SNP: :rs 2395158(human) PMID:19882345|REF_RGD_ID:9685030 9048784 Btnl2 butyrophilin like 2 gene DOID:399 tuberculosis no_association ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes: : PMID:17347014|REF_RGD_ID:9685036 9048784 Btnl2 butyrophilin like 2 gene DOID:399 tuberculosis susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human) PMID:20176143|REF_RGD_ID:9685035 9048784 Btnl2 butyrophilin like 2 gene DOID:630 genetic disease ISO RGD:1353557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048784 Btnl2 butyrophilin like 2 gene DOID:7148 rheumatoid arthritis susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:23364395|REF_RGD_ID:9685033 9048784 Btnl2 butyrophilin like 2 gene DOID:8577 ulcerative colitis susceptibility ISO RGD:1353557 D RGD:9068941 20200609 RGD DNA:SNPs: : rs2294881,rs9268480,rs2076523(human) PMID:19659809|REF_RGD_ID:9685032 9048803 Adamts3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:10283 prostate cancer ISO RGD:1321838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9048803 Adamts3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:5419 schizophrenia ISO RGD:1321838 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 9048803 Adamts3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:630 genetic disease ISO RGD:1321838 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:30450763 9048803 Adamts3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:9004748 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 ISO RGD:1321838 D RGD:7240710 20190315 OMIM 9048803 Adamts3 ADAM metallopeptidase with thrombospondin type 1 motif 3 gene DOID:9004748 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 ISO RGD:1321838 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 PMID:25741868|PMID:28492532|PMID:28985353|PMID:30450763 9048829 Camta2 calmodulin binding transcription activator 2 gene DOID:0050941 spastic ataxia 2 ISO RGD:1322678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 9048829 Camta2 calmodulin binding transcription activator 2 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1322678 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 9048829 Camta2 calmodulin binding transcription activator 2 gene DOID:630 genetic disease ISO RGD:1322678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048870 Noto notochord homeobox gene DOID:0050473 Alstrom syndrome ISO RGD:1348141 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alstrom's syndrome PMID:28492532 9048870 Noto notochord homeobox gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:1348141 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 9048870 Noto notochord homeobox gene DOID:543 dystonia ISO RGD:1348141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9048870 Noto notochord homeobox gene DOID:630 genetic disease ISO RGD:1348141 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048870 Noto notochord homeobox gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:1348141 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9048878 Sfpq splicing factor proline and glutamine rich gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1343285 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9048878 Sfpq splicing factor proline and glutamine rich gene DOID:37 skin disease ISO RGD:1343285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9048878 Sfpq splicing factor proline and glutamine rich gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 9048878 Sfpq splicing factor proline and glutamine rich gene DOID:630 genetic disease ISO RGD:1343285 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048878 Sfpq splicing factor proline and glutamine rich gene DOID:9007964 Arsenic Poisoning ISO RGD:1343285 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9048892 Zfyve28 zinc finger FYVE-type containing 28 gene DOID:0080600 COVID-19 ISO RGD:1320885 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9048892 Zfyve28 zinc finger FYVE-type containing 28 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:1320885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 9048892 Zfyve28 zinc finger FYVE-type containing 28 gene DOID:1856 cherubism ISO RGD:1320885 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 9048892 Zfyve28 zinc finger FYVE-type containing 28 gene DOID:630 genetic disease ISO RGD:1320885 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048916 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:0111723 Jacobsen Syndrome ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 9048916 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:5419 schizophrenia ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9048916 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:630 genetic disease ISO RGD:1320284 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048916 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9048916 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9048916 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:9007661 Dwarfism ISO RGD:1320284 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9048916 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:9008234 Distal Arthrogryposis Type 12 ISO RGD:1320284 D RGD:7240710 20231025 OMIM 9048916 Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15 gene DOID:9008234 Distal Arthrogryposis Type 12 ISO RGD:1320284 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 12 PMID:35962790 9048933 Pstpip2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:0060356 Vici syndrome ISO RGD:1352589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 9048933 Pstpip2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:0060645 chronic recurrent multifocal osteomyelitis ISO RGD:1558463 D RGD:9068941 20230202 MouseDO OMIM:259680 9048933 Pstpip2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:1059 intellectual disability ISO RGD:1352589 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9048933 Pstpip2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:13677 SAPHO syndrome ISO RGD:1352589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27106250 9048933 Pstpip2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:630 genetic disease ISO RGD:1352589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048933 Pstpip2 proline-serine-threonine phosphatase interacting protein 2 gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:1352589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 9048952 Nhsl3 NHS like 3 gene DOID:630 genetic disease ISO RGD:1602871 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048952 Nhsl3 NHS like 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602871 D RGD:9068941 20240208 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9048969 Golga5 golgin A5 gene DOID:0080054 achondrogenesis type IA ISO RGD:1317779 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 9048969 Golga5 golgin A5 gene DOID:630 genetic disease ISO RGD:1317779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9048969 Golga5 golgin A5 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1317779 D RGD:9068941 20200609 RGD reciprocal translocation resulting in fusion of GOLGA5 with the RET oncogene found in radioactivity-induced thyroid carcinomas PMID:9443391|REF_RGD_ID:1599259 9049003 Znf19 zinc finger protein 19 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1349877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9049003 Znf19 zinc finger protein 19 gene DOID:630 genetic disease ISO RGD:1349877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049007 Wnt9b Wnt family member 9B gene DOID:0080204 renal hypoplasia ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal hypoplasia PMID:34145744 9049007 Wnt9b Wnt family member 9B gene DOID:630 genetic disease ISO RGD:1319983 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049007 Wnt9b Wnt family member 9B gene DOID:784 chronic kidney disease ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:34145744 9049007 Wnt9b Wnt family member 9B gene DOID:891 progressive myoclonus epilepsy ISO RGD:1319983 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:21549339|PMID:28492532 9049014 Emc2 ER membrane protein complex subunit 2 gene DOID:630 genetic disease ISO RGD:1321326 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049036 Fbxo32 F-box protein 32 gene DOID:0060224 atrial fibrillation ISO RGD:734419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 9049036 Fbxo32 F-box protein 32 gene DOID:14557 primary pulmonary hypertension ISO RGD:734419 D RGD:9068941 20230520 RGD mRNA:increased expression:vastus lateralis PMID:23972212|REF_RGD_ID:329812002 9049036 Fbxo32 F-box protein 32 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:734419 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 9049036 Fbxo32 F-box protein 32 gene DOID:630 genetic disease ISO RGD:734419 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049036 Fbxo32 F-box protein 32 gene DOID:767 muscular atrophy ISO RGD:620373 D RGD:9068941 20200609 RGD PMID:11679633|REF_RGD_ID:633893 9049036 Fbxo32 F-box protein 32 gene DOID:767 muscular atrophy ISO RGD:734419 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21139329 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1344057 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1344057 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0110720 neuronal ceroid lipofuscinosis 4 ISO RGD:1344057 D RGD:7240710 20180725 OMIM 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0110720 neuronal ceroid lipofuscinosis 4 ISO RGD:1344057 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Kufs disease autosomal dominant | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B PMID:11489285|PMID:12112194|PMID:21820099|PMID:22073189|PMID:22235333|PMID:22978711|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31919451 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:11832 visual epilepsy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:26467025|PMID:28492532 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344057 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:17576681|PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25741868|PMID:25921748|PMID:26467025|PMID:28492532|PMID:29215089|PMID:30866059|PMID:32412666|PMID:9536098 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1344057 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32412666|PMID:32662538|PMID:33179747|PMID:34720963|PMID:9536098 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:1826 epilepsy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:26467025|PMID:28492532 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:630 genetic disease ISO RGD:1344057 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 9049047 Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1344057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:25741868|PMID:26467025|PMID:28492532 9049067 Smim7 small integral membrane protein 7 gene DOID:630 genetic disease ISO RGD:1601966 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049093 Emp2 epithelial membrane protein 2 gene DOID:0080386 nephrotic syndrome type 10 ISO RGD:1344065 D RGD:7240710 20180130 OMIM 9049093 Emp2 epithelial membrane protein 2 gene DOID:0080386 nephrotic syndrome type 10 ISO RGD:1344065 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 10 PMID:24814193|PMID:25741868|PMID:28492532 9049093 Emp2 epithelial membrane protein 2 gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1344065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 9049093 Emp2 epithelial membrane protein 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1344065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 9049093 Emp2 epithelial membrane protein 2 gene DOID:3891 placental insufficiency ISO RGD:1552846 D RGD:9068941 20220825 MouseDO 9049093 Emp2 epithelial membrane protein 2 gene DOID:5812 MHC class II deficiency ISO RGD:1344065 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:26271388|PMID:28492532|PMID:8402893|PMID:9099848 9049093 Emp2 epithelial membrane protein 2 gene DOID:630 genetic disease ISO RGD:1344065 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28106320|PMID:28492532 9049103 Peli1 pellino E3 ubiquitin protein ligase 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1322532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9049103 Peli1 pellino E3 ubiquitin protein ligase 1 gene DOID:37 skin disease ISO RGD:1322532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9049103 Peli1 pellino E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1322532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049103 Peli1 pellino E3 ubiquitin protein ligase 1 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1322532 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 9049103 Peli1 pellino E3 ubiquitin protein ligase 1 gene DOID:9007964 Arsenic Poisoning ISO RGD:1322532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9049103 Peli1 pellino E3 ubiquitin protein ligase 1 gene DOID:9256 colorectal cancer susceptibility ISO RGD:1322532 D RGD:9068941 20220617 RGD DNA:SNP:exon: (rs329497) (human) PMID:33470690|REF_RGD_ID:152995405 9049121 Os9 OS9 endoplasmic reticulum lectin gene DOID:630 genetic disease ISO RGD:1605693 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049121 Os9 OS9 endoplasmic reticulum lectin gene DOID:6846 familial melanoma ISO RGD:1605693 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 9049121 Os9 OS9 endoplasmic reticulum lectin gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605693 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary cancer PMID:25741868 9049138 Xrcc4 X-ray repair cross complementing 4 gene DOID:0050904 salivary gland carcinoma sexual_dimorphism ISO RGD:1353234 D RGD:9068941 20220303 RGD DNA:SNP:intron: (rs13180356) (human) PMID:26035306|REF_RGD_ID:151361290 9049138 Xrcc4 X-ray repair cross complementing 4 gene DOID:0060873 isolated growth hormone deficiency type IA ISO RGD:1353234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism 1 PMID:24389050|PMID:25558065|PMID:25728776|PMID:25741868|PMID:26255102 9049138 Xrcc4 X-ray repair cross complementing 4 gene DOID:4866 salivary gland adenoid cystic carcinoma susceptibility ISO RGD:1353234 D RGD:9068941 20220303 RGD DNA:SNP:intron: (rs13180356) (human) PMID:26035306|REF_RGD_ID:151361290 9049138 Xrcc4 X-ray repair cross complementing 4 gene DOID:630 genetic disease ISO RGD:1353234 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9049138 Xrcc4 X-ray repair cross complementing 4 gene DOID:9002620 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ISO RGD:1353234 D RGD:7240710 20180130 OMIM 9049138 Xrcc4 X-ray repair cross complementing 4 gene DOID:9002620 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ISO RGD:1353234 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction | ClinVar Annotator: match by term: XRCC4-related condition PMID:16199547|PMID:18695064|PMID:24033266|PMID:24389050|PMID:25558065|PMID:25728776|PMID:25741868|PMID:25742519|PMID:25839420|PMID:25872942|PMID:26255102|PMID:26822949|PMID:28492532 9049138 Xrcc4 X-ray repair cross complementing 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353234 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9049138 Xrcc4 X-ray repair cross complementing 4 gene DOID:9004814 Chromosome Aberrations ISO RGD:1353234 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20726224 9049138 Xrcc4 X-ray repair cross complementing 4 gene DOID:9538 multiple myeloma susceptibility ISO RGD:1353234 D RGD:9068941 20200609 RGD DNA:SNPs:multiple (human) PMID:17901044|REF_RGD_ID:8698655 9049153 Fxyd7 FXYD domain containing ion transport regulator 7 gene DOID:0110222 Brugada syndrome 5 ISO RGD:732780 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 9049153 Fxyd7 FXYD domain containing ion transport regulator 7 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:732780 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9049153 Fxyd7 FXYD domain containing ion transport regulator 7 gene DOID:543 dystonia ISO RGD:732780 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 9049153 Fxyd7 FXYD domain containing ion transport regulator 7 gene DOID:630 genetic disease ISO RGD:732780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049169 Selenoi selenoprotein I gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1604559 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9049169 Selenoi selenoprotein I gene DOID:0112349 hereditary spastic paraplegia 81 ISO RGD:1604559 D RGD:7240710 20200226 OMIM 9049169 Selenoi selenoprotein I gene DOID:0112349 hereditary spastic paraplegia 81 ISO RGD:1604559 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive PMID:25741868|PMID:28052917|PMID:29500230|PMID:33454747|PMID:36942482 9049169 Selenoi selenoprotein I gene DOID:630 genetic disease ISO RGD:1604559 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049188 Ube2h ubiquitin conjugating enzyme E2 H gene DOID:11612 polycystic ovary syndrome ISO RGD:1320678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9049188 Ube2h ubiquitin conjugating enzyme E2 H gene DOID:12849 autistic disorder ISO RGD:1320678 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14639049 9049188 Ube2h ubiquitin conjugating enzyme E2 H gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320678 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9049188 Ube2h ubiquitin conjugating enzyme E2 H gene DOID:630 genetic disease ISO RGD:1320678 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049206 Snrk SNF related kinase gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:735399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 9049206 Snrk SNF related kinase gene DOID:630 genetic disease ISO RGD:735399 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049218 Wdr73 WD repeat domain 73 gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1602852 D RGD:7240710 20190313 OMIM 9049218 Wdr73 WD repeat domain 73 gene DOID:0060364 Galloway-Mowat syndrome 1 ISO RGD:1602852 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition PMID:11391656|PMID:12030328|PMID:16217710|PMID:20531441|PMID:25466283|PMID:25741868|PMID:25873735|PMID:26070982|PMID:26123727|PMID:27001912|PMID:28492532|PMID:29127259|PMID:30315938|PMID:31130284 9049218 Wdr73 WD repeat domain 73 gene DOID:0080694 Galloway-Mowat syndrome ISO RGD:1602852 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25466283 9049218 Wdr73 WD repeat domain 73 gene DOID:1184 nephrotic syndrome ISO RGD:1602852 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:16217710|PMID:25741868|PMID:25873735|PMID:26123727|PMID:27001912|PMID:29127259 9049218 Wdr73 WD repeat domain 73 gene DOID:1826 epilepsy ISO RGD:1602852 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:32581362 9049218 Wdr73 WD repeat domain 73 gene DOID:2717 Bloom syndrome ISO RGD:1602852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9049218 Wdr73 WD repeat domain 73 gene DOID:543 dystonia ISO RGD:1602852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 9049218 Wdr73 WD repeat domain 73 gene DOID:630 genetic disease ISO RGD:1602852 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25466283|PMID:25741868|PMID:25873735|PMID:25954003|PMID:26123727|PMID:27618451|PMID:28490743|PMID:28492532|PMID:9536098 9049218 Wdr73 WD repeat domain 73 gene DOID:9256 colorectal cancer ISO RGD:1602852 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9049236 Cars1 cysteinyl-tRNA synthetase 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1321833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9049236 Cars1 cysteinyl-tRNA synthetase 1 gene DOID:0080773 delta beta-thalassemia ISO RGD:1321833 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9049236 Cars1 cysteinyl-tRNA synthetase 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1321833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9049236 Cars1 cysteinyl-tRNA synthetase 1 gene DOID:630 genetic disease ISO RGD:1321833 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049236 Cars1 cysteinyl-tRNA synthetase 1 gene DOID:9006793 MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME ISO RGD:1321833 D RGD:7240710 20200805 OMIM 9049236 Cars1 cysteinyl-tRNA synthetase 1 gene DOID:9006793 MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME ISO RGD:1321833 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome PMID:25741868|PMID:28492532|PMID:30824121 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1603397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1603397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:25741868|PMID:31784481 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:0060898 Parkinson's disease 20 ISO RGD:1603397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1603397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:0080512 Meier-Gorlin syndrome 1 ISO RGD:1603397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 PMID:25741868 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:10907 microcephaly ISO RGD:1603397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191891 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:630 genetic disease ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:9002621 Microcephaly-Micromelia Syndrome ISO RGD:1603397 D RGD:7240710 20200923 OMIM 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:9002621 Microcephaly-Micromelia Syndrome ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly-micromelia syndrome PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:34645488 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:9002832 Microcephaly, Short Stature, and Limb Abnormalities ISO RGD:1603397 D RGD:7240710 20190315 OMIM 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:9002832 Microcephaly, Short Stature, and Limb Abnormalities ISO RGD:1603397 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: DONSON-related condition | ClinVar Annotator: match by term: Microcephaly, short stature, and limb abnormalities PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:28630177|PMID:31407851|PMID:31784481|PMID:34645488|PMID:8434992 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:9005698 ZTTK Syndrome ISO RGD:1603397 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:9007661 Dwarfism ISO RGD:1603397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28191891|PMID:28331220|PMID:28492532|PMID:31407851 9049281 Donson DNA replication fork stabilization factor DONSON gene DOID:9008443 Colorectal Neoplasms ISO RGD:1603397 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 9049295 Dusp12 dual specificity phosphatase 12 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:731810 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 9049295 Dusp12 dual specificity phosphatase 12 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:731810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 9049295 Dusp12 dual specificity phosphatase 12 gene DOID:1540 parathyroid carcinoma ISO RGD:731810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9049295 Dusp12 dual specificity phosphatase 12 gene DOID:630 genetic disease ISO RGD:731810 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049295 Dusp12 dual specificity phosphatase 12 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731810 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9049316 Tubb tubulin beta class I gene DOID:0050453 lissencephaly ISO RGD:1606428 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:29671837|PMID:29706646 9049316 Tubb tubulin beta class I gene DOID:0090136 complex cortical dysplasia with other brain malformations 6 ISO RGD:1606428 D RGD:7240710 20180130 OMIM 9049316 Tubb tubulin beta class I gene DOID:0090136 complex cortical dysplasia with other brain malformations 6 ISO RGD:1606428 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 6 PMID:23246003|PMID:24833723|PMID:25741868|PMID:26637975|PMID:29671837|PMID:29706646|PMID:30738969|PMID:32085672|PMID:34211110|PMID:35183200 9049316 Tubb tubulin beta class I gene DOID:0112241 multiple benign circumferential skin creases on limbs ISO RGD:1606428 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome PMID:23246003|PMID:24833723|PMID:25741868|PMID:26637975|PMID:29671837|PMID:29706646|PMID:30738969|PMID:35183200 9049316 Tubb tubulin beta class I gene DOID:0112242 congenital symmetric circumferential skin creases 1 ISO RGD:1606428 D RGD:7240710 20180130 OMIM 9049316 Tubb tubulin beta class I gene DOID:0112242 congenital symmetric circumferential skin creases 1 ISO RGD:1606428 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 | ClinVar Annotator: match by term: TUBB-related condition PMID:23246003|PMID:24833723|PMID:25741868|PMID:26637975|PMID:29671837|PMID:29706646|PMID:30738969|PMID:35183200 9049316 Tubb tubulin beta class I gene DOID:10907 microcephaly ISO RGD:1624063 D RGD:9068941 20220825 MouseDO OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 9049316 Tubb tubulin beta class I gene DOID:10908 hydrocephalus ISO RGD:1606428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 9049316 Tubb tubulin beta class I gene DOID:11372 megacolon ISO RGD:1606428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9049316 Tubb tubulin beta class I gene DOID:12930 dilated cardiomyopathy ISO RGD:1624063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 9049316 Tubb tubulin beta class I gene DOID:6000 congestive heart failure ISO RGD:1624063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16155095 9049316 Tubb tubulin beta class I gene DOID:630 genetic disease ISO RGD:1606428 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23246003|PMID:24833723|PMID:25741868|PMID:30738969|PMID:35183200 9049316 Tubb tubulin beta class I gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:1624063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 9049316 Tubb tubulin beta class I gene DOID:9009131 Ventriculomegaly ISO RGD:1606428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868 9049336 LOC102020128 histone-lysine N-methyltransferase SETMAR gene DOID:0050965 spinocerebellar ataxia type 15 ISO RGD:1348585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 PMID:17932120|PMID:20669319|PMID:21681106 9049336 LOC102020128 histone-lysine N-methyltransferase SETMAR gene DOID:630 genetic disease ISO RGD:1348585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049336 LOC102020128 histone-lysine N-methyltransferase SETMAR gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9049353 Pkd2l1 polycystin 2 like 1, transient receptor potential cation channel gene DOID:10283 prostate cancer ISO RGD:1314779 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9049353 Pkd2l1 polycystin 2 like 1, transient receptor potential cation channel gene DOID:630 genetic disease ISO RGD:1314779 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049385 Ubr3 ubiquitin protein ligase E3 component n-recognin 3 gene DOID:630 genetic disease ISO RGD:1346219 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049429 Glra1 glycine receptor alpha 1 gene DOID:0060695 hyperekplexia ISO RGD:730939 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hyperekplexia | ClinVar Annotator: match by term: Kok disease PMID:20631190|PMID:24108130|PMID:25741868|PMID:28492532 9049429 Glra1 glycine receptor alpha 1 gene DOID:0060696 hyperekplexia 1 ISO RGD:730939 D RGD:7240710 20180130 OMIM 9049429 Glra1 glycine receptor alpha 1 gene DOID:0060696 hyperekplexia 1 ISO RGD:730939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperekplexia 1 PMID:10817489|PMID:11389164|PMID:11702206|PMID:11781706|PMID:11973623|PMID:12746425|PMID:1334371|PMID:15771552|PMID:16078201|PMID:16236274|PMID:16832093|PMID:17536053|PMID:18043720|PMID:19073849|PMID:20631190|PMID:22264702|PMID:24033266|PMID:24108130|PMID:25333069|PMID:25568133|PMID:25741868|PMID:26733802|PMID:28122427|PMID:28138086|PMID:28492532|PMID:28617419|PMID:28879899|PMID:28985719|PMID:7518444|PMID:7611730|PMID:7874121|PMID:7881416|PMID:7981700|PMID:8298642|PMID:8571969|PMID:8651283|PMID:8733061|PMID:9009272|PMID:9067762|PMID:9920650 9049429 Glra1 glycine receptor alpha 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:730939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9049429 Glra1 glycine receptor alpha 1 gene DOID:13366 Stiff-Person syndrome ISO RGD:730939 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary hyperekplexia PMID:10514101|PMID:10817489|PMID:11389164|PMID:11702206|PMID:12169101|PMID:12746425|PMID:1334371|PMID:15365143|PMID:15771552|PMID:16078201|PMID:16199547|PMID:16236274|PMID:16941485|PMID:17536053|PMID:17576681|PMID:19073849|PMID:19732286|PMID:20631190|PMID:22532536|PMID:24033266|PMID:24108130|PMID:25036534|PMID:25333069|PMID:25568133|PMID:25741868|PMID:26733802|PMID:28122427|PMID:28138086|PMID:28174298|PMID:28492532|PMID:28617419|PMID:28985719|PMID:30078784|PMID:30182260|PMID:30866851|PMID:32695065|PMID:7518444|PMID:7611730|PMID:7881416|PMID:7981700|PMID:8298642|PMID:8733061|PMID:9009272|PMID:9536098 9049429 Glra1 glycine receptor alpha 1 gene DOID:543 dystonia ISO RGD:730939 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17114051 9049429 Glra1 glycine receptor alpha 1 gene DOID:630 genetic disease ISO RGD:730939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20631190|PMID:25741868|PMID:28174298|PMID:28492532 9049429 Glra1 glycine receptor alpha 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:730939 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9049429 Glra1 glycine receptor alpha 1 gene DOID:9007722 Myoclonus ISO RGD:730939 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sleep myoclonus PMID:1334371|PMID:25741868|PMID:28122427|PMID:28138086|PMID:28492532|PMID:28617419|PMID:7518444|PMID:7611730|PMID:7881416|PMID:7981700|PMID:8298642|PMID:8733061 9049464 Ly6g6c lymphocyte antigen 6 family member G6C gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1344908 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9049464 Ly6g6c lymphocyte antigen 6 family member G6C gene DOID:630 genetic disease ISO RGD:1344908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049472 Dph3 diphthamide biosynthesis 3 gene DOID:0060417 3p deletion syndrome ISO RGD:1346924 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 9049472 Dph3 diphthamide biosynthesis 3 gene DOID:630 genetic disease ISO RGD:1346924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049495 LOC102028311 cytochrome b-c1 complex subunit 10 gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1348323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 9049495 LOC102028311 cytochrome b-c1 complex subunit 10 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1348323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 9049495 LOC102028311 cytochrome b-c1 complex subunit 10 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1348323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:28492532 9049495 LOC102028311 cytochrome b-c1 complex subunit 10 gene DOID:5339 cyclic hematopoiesis ISO RGD:1348323 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 9049495 LOC102028311 cytochrome b-c1 complex subunit 10 gene DOID:630 genetic disease ISO RGD:1348323 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049495 LOC102028311 cytochrome b-c1 complex subunit 10 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9049508 Slitrk2 SLIT and NTRK like family member 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845 9049508 Slitrk2 SLIT and NTRK like family member 2 gene DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 ISO RGD:1344547 D RGD:7240710 20230505 OMIM 9049508 Slitrk2 SLIT and NTRK like family member 2 gene DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 ISO RGD:1344547 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 111 PMID:25741868|PMID:35840571 9049508 Slitrk2 SLIT and NTRK like family member 2 gene DOID:1059 intellectual disability ISO RGD:1344547 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe 9049508 Slitrk2 SLIT and NTRK like family member 2 gene DOID:1059 intellectual disability ISO RGD:1344547 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:35840571 9049508 Slitrk2 SLIT and NTRK like family member 2 gene DOID:12849 autistic disorder ISO RGD:1344547 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9049508 Slitrk2 SLIT and NTRK like family member 2 gene DOID:630 genetic disease ISO RGD:1344547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049524 Npat nuclear protein, ataxia-telangiectasia locus gene DOID:1059 intellectual disability ISO RGD:1323667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9049524 Npat nuclear protein, ataxia-telangiectasia locus gene DOID:12704 ataxia telangiectasia ISO RGD:1323667 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532|PMID:31671381 9049524 Npat nuclear protein, ataxia-telangiectasia locus gene DOID:14723 beta-ketothiolase deficiency ISO RGD:1323667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 9049524 Npat nuclear protein, ataxia-telangiectasia locus gene DOID:630 genetic disease ISO RGD:1323667 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9049524 Npat nuclear protein, ataxia-telangiectasia locus gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9049553 Ly86 lymphocyte antigen 86 gene DOID:182 calcinosis ISO RGD:1320546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 9049553 Ly86 lymphocyte antigen 86 gene DOID:4079 heart valve disease ISO RGD:1320546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21335463 9049553 Ly86 lymphocyte antigen 86 gene DOID:630 genetic disease ISO RGD:1320546 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049553 Ly86 lymphocyte antigen 86 gene DOID:9000998 Brain Injuries ISO RGD:1320546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21549006 9049553 Ly86 lymphocyte antigen 86 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1320546 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9049567 Nags N-acetylglutamate synthase gene DOID:0112258 N-acetylglutamate synthase deficiency ISO RGD:1349520 D RGD:7240710 20180130 OMIM 9049567 Nags N-acetylglutamate synthase gene DOID:10485 esophageal atresia ISO RGD:1349520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 9049567 Nags N-acetylglutamate synthase gene DOID:630 genetic disease ISO RGD:1349520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12594532|PMID:15050968|PMID:15714518|PMID:16199547|PMID:17421020|PMID:25741868|PMID:27570737|PMID:28492532 9049567 Nags N-acetylglutamate synthase gene DOID:9008972 Hyperammonemia ISO RGD:1349520 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hyperammonemia, type III PMID:12594532|PMID:12754705|PMID:15050968|PMID:15714518|PMID:15858972|PMID:15878741|PMID:16199547|PMID:17421020|PMID:23776373|PMID:23894642|PMID:24233332|PMID:25741868|PMID:27037498|PMID:27570737|PMID:28492532|PMID:32021803|PMID:33309754|PMID:34510628|PMID:9877039 9049567 Nags N-acetylglutamate synthase gene DOID:9252 amino acid metabolic disorder ISO RGD:1349520 D RGD:9068941 20200609 RGD N-acetylglutamate synthase deficiency, OMIM:237310, DNA:frameshift:1025delG, point mutation:W324X PMID:12594532|REF_RGD_ID:1600560 9049578 Hoxb1 homeobox B1 gene DOID:630 genetic disease ISO RGD:1321119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049578 Hoxb1 homeobox B1 gene DOID:9001799 Hereditary Congenital Facial Paresis ISO RGD:1321119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24239177 9049578 Hoxb1 homeobox B1 gene DOID:9004319 Ventricular Outflow Obstruction ISO RGD:1321120 D RGD:9068941 20230629 RGD PMID:26284287|REF_RGD_ID:11052805 9049578 Hoxb1 homeobox B1 gene DOID:9006534 Nervous System Malformations ISO RGD:1321119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 9049578 Hoxb1 homeobox B1 gene DOID:9008662 Hereditary Congenital Facial Paresis 3 ISO RGD:1321119 D RGD:7240710 20180130 OMIM 9049578 Hoxb1 homeobox B1 gene DOID:9008662 Hereditary Congenital Facial Paresis 3 ISO RGD:1321119 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3 PMID:22770981|PMID:25741868|PMID:26007620|PMID:26467025|PMID:27144914|PMID:28492532 9049578 Hoxb1 homeobox B1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1321119 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10529420 9049585 Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 gene DOID:3753 Hermansky-Pudlak syndrome ISO RGD:1332125 D RGD:9068941 20220825 MouseDO 9049585 Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 gene DOID:630 genetic disease ISO RGD:1602324 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049590 Faim2 Fas apoptotic inhibitory molecule 2 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:628744 D RGD:9068941 20200609 RGD PMID:29208459|REF_RGD_ID:13792601 9049590 Faim2 Fas apoptotic inhibitory molecule 2 gene DOID:630 genetic disease ISO RGD:1348169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049614 Kctd20 potassium channel tetramerization domain containing 20 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1320472 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9049614 Kctd20 potassium channel tetramerization domain containing 20 gene DOID:630 genetic disease ISO RGD:1320472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049626 Ptger2 prostaglandin E receptor 2 gene DOID:0080822 aspirin-induced respiratory disease ISO RGD:1342884 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to PMID:15496426 9049626 Ptger2 prostaglandin E receptor 2 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance ISO RGD:1342884 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 9049626 Ptger2 prostaglandin E receptor 2 gene DOID:0111579 asthma, nasal polyps, and aspirin intolerance susceptibility ISO RGD:1342884 D RGD:7240710 20230505 OMIM 9049626 Ptger2 prostaglandin E receptor 2 gene DOID:1876 sexual dysfunction ISO RGD:1342884 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18726914 9049626 Ptger2 prostaglandin E receptor 2 gene DOID:289 endometriosis ISO RGD:1342884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19407222 9049626 Ptger2 prostaglandin E receptor 2 gene DOID:5223 infertility ISO RGD:1342884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10359563 9049626 Ptger2 prostaglandin E receptor 2 gene DOID:630 genetic disease ISO RGD:1342884 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049626 Ptger2 prostaglandin E receptor 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1342884 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9049636 Kif2c kinesin family member 2C gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:734428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9049636 Kif2c kinesin family member 2C gene DOID:0080600 COVID-19 ISO RGD:734428 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9049636 Kif2c kinesin family member 2C gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:734428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9049636 Kif2c kinesin family member 2C gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:734428 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9049636 Kif2c kinesin family member 2C gene DOID:2773 contact dermatitis ISO RGD:734428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9049636 Kif2c kinesin family member 2C gene DOID:630 genetic disease ISO RGD:734428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049636 Kif2c kinesin family member 2C gene DOID:684 hepatocellular carcinoma ISO RGD:734428 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9049636 Kif2c kinesin family member 2C gene DOID:9000965 Neoplasm Metastasis disease_progression ISO RGD:734428 D RGD:9068941 20200609 RGD associated with colorectal cancer PMID:18506187|REF_RGD_ID:27372891 9049636 Kif2c kinesin family member 2C gene DOID:9256 colorectal cancer disease_progression ISO RGD:734428 D RGD:9068941 20200609 RGD PMID:18506187|REF_RGD_ID:27372891 9049670 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1603202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9049670 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1603202 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 9049670 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1603202 D RGD:7240710 20180130 OMIM 9049670 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:0111117 nephronophthisis-like nephropathy 1 ISO RGD:1603202 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Nephronophthisis-Like Nephropathy | ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:16199547|PMID:17576681|PMID:20179356|PMID:21068128|PMID:25741868|PMID:28492532|PMID:29758562|PMID:32660933|PMID:9536098 9049670 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1603202 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:15706485|PMID:24476420|PMID:28492532 9049670 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:557 kidney disease ISO RGD:1603202 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 9049670 Xpnpep3 X-prolyl aminopeptidase 3 gene DOID:630 genetic disease ISO RGD:1603202 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9049722 Fry FRY microtubule binding protein gene DOID:1059 intellectual disability ISO RGD:1349911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 9049722 Fry FRY microtubule binding protein gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1349911 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 9049722 Fry FRY microtubule binding protein gene DOID:630 genetic disease ISO RGD:1349911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049722 Fry FRY microtubule binding protein gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9049808 Med4 mediator complex subunit 4 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1354139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 9049808 Med4 mediator complex subunit 4 gene DOID:0080124 mitochondrial DNA depletion syndrome 5 ISO RGD:1354139 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:15877282|PMID:17301081|PMID:26475597|PMID:28492532 9049808 Med4 mediator complex subunit 4 gene DOID:1059 intellectual disability ISO RGD:1354139 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9049808 Med4 mediator complex subunit 4 gene DOID:289 endometriosis ISO RGD:1354139 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 9049808 Med4 mediator complex subunit 4 gene DOID:4362 cervical cancer severity ISO RGD:1354139 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix (human) PMID:19911042|REF_RGD_ID:12880436 9049808 Med4 mediator complex subunit 4 gene DOID:630 genetic disease ISO RGD:1354139 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049808 Med4 mediator complex subunit 4 gene DOID:768 retinoblastoma ISO RGD:1354139 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:15877282|PMID:17096365|PMID:17301081|PMID:22180099|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 9049808 Med4 mediator complex subunit 4 gene DOID:768 retinoblastoma ISO RGD:1354139 D RGD:8554872 20230418 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12541220|PMID:14722923|PMID:17096365|PMID:22180099|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255 9049819 Dglucy D-glutamate cyclase gene DOID:0080054 achondrogenesis type IA ISO RGD:1323376 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 9049819 Dglucy D-glutamate cyclase gene DOID:630 genetic disease ISO RGD:1323376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049852 Samd7 sterile alpha motif domain containing 7 gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:1318984 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:28492532 9049852 Samd7 sterile alpha motif domain containing 7 gene DOID:1062 Fanconi syndrome ISO RGD:1318984 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 9049852 Samd7 sterile alpha motif domain containing 7 gene DOID:630 genetic disease ISO RGD:1318984 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049862 Cers5 ceramide synthase 5 gene DOID:630 genetic disease ISO RGD:1323138 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049882 Erbin erbb2 interacting protein gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1321667 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23685749 9049882 Erbin erbb2 interacting protein gene DOID:10283 prostate cancer ISO RGD:1321667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9049882 Erbin erbb2 interacting protein gene DOID:630 genetic disease ISO RGD:1321667 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9049882 Erbin erbb2 interacting protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9049919 Prelid3b PRELI domain containing 3B gene DOID:630 genetic disease ISO RGD:1345443 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049951 Synm synemin gene DOID:0060397 chromosome 15q26-qter deletion syndrome ISO RGD:1354169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome PMID:31690835 9049951 Synm synemin gene DOID:630 genetic disease ISO RGD:1354169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049961 Peg3 paternally expressed 3 gene DOID:4947 cholangiocarcinoma ISO RGD:1322359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 9049961 Peg3 paternally expressed 3 gene DOID:630 genetic disease ISO RGD:1322359 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049961 Peg3 paternally expressed 3 gene DOID:9003155 Parasitic Liver Diseases ISO RGD:1322359 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561520 9049972 Myl3 myosin light chain 3 gene DOID:0050638 transthyretin amyloidosis ISO RGD:736456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:24033266|PMID:24510615|PMID:25741868|PMID:28492532 9049972 Myl3 myosin light chain 3 gene DOID:0050700 cardiomyopathy ISO RGD:736456 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16754800|PMID:17142342|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26385864|PMID:26443374|PMID:26633542|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28166811|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30706179|PMID:31110529|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31737537|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32906206|PMID:33087929|PMID:33407484|PMID:33726816|PMID:8673105 9049972 Myl3 myosin light chain 3 gene DOID:0050700 cardiomyopathy ISO RGD:736456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16754800|PMID:17142342|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24784157|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31618753|PMID:31737537|PMID:32009526|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495597|PMID:33662488|PMID:33726816|PMID:34426522|PMID:8673105 9049972 Myl3 myosin light chain 3 gene DOID:0050700 cardiomyopathy ISO RGD:736456 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16754800|PMID:17142342|PMID:17576681|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24784157|PMID:24865491|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30105547|PMID:30122538|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31534214|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32009526|PMID:32034976|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33662488|PMID:33726816|PMID:34426522|PMID:34598319|PMID:35026164|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36509720|PMID:37431535|PMID:8673105|PMID:9536098 9049972 Myl3 myosin light chain 3 gene DOID:0060387 chondrodysplasia Blomstrand type ISO RGD:736456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type 9049972 Myl3 myosin light chain 3 gene DOID:0080020 Jansen's metaphyseal chondrodysplasia ISO RGD:736456 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type 9049972 Myl3 myosin light chain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28166811|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30165862|PMID:30297972|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31737537|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:34426522|PMID:8673105 9049972 Myl3 myosin light chain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30165862|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:33673806|PMID:34426522|PMID:35629155|PMID:35653365|PMID:36509720|PMID:8673105 9049972 Myl3 myosin light chain 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30165862|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:33673806|PMID:34426522|PMID:35026164|PMID:35629155|PMID:35653365|PMID:36509720|PMID:37431535|PMID:8673105 9049972 Myl3 myosin light chain 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:736456 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:11174330|PMID:12021217|PMID:16754800|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25910212|PMID:26332594|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27483260|PMID:27532257|PMID:27574918|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28658286|PMID:28771489|PMID:28971120|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29710196|PMID:29914921|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31554435|PMID:31618753|PMID:32746448|PMID:32906206|PMID:33288880|PMID:33495597|PMID:34426522|PMID:35026164|PMID:35629155|PMID:35653365|PMID:36509720|PMID:37431535|PMID:8673105 9049972 Myl3 myosin light chain 3 gene DOID:0110314 hypertrophic cardiomyopathy 8 ISO RGD:736456 D RGD:7240710 20180130 OMIM 9049972 Myl3 myosin light chain 3 gene DOID:0110314 hypertrophic cardiomyopathy 8 ISO RGD:736456 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 8 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 8 PMID:08673105|PMID:11174330|PMID:12021217|PMID:16199547|PMID:16267253|PMID:16754800|PMID:17142342|PMID:17576681|PMID:18403758|PMID:18409188|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24784157|PMID:24911555|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29398688|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30105547|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32034976|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33662488|PMID:33726816|PMID:34426522|PMID:35026164|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36509720|PMID:37431535|PMID:6211078|PMID:8673105|PMID:9536098 9049972 Myl3 myosin light chain 3 gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:736456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:08673105|PMID:17142342|PMID:22131351|PMID:22958901|PMID:23054336|PMID:23283745|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28408708|PMID:28492532|PMID:28615295|PMID:28790153|PMID:29253866|PMID:29709087|PMID:31110529|PMID:8673105 9049972 Myl3 myosin light chain 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:736456 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:08673105|PMID:11174330|PMID:12021217|PMID:16199547|PMID:16267253|PMID:16754800|PMID:17142342|PMID:17576681|PMID:18403758|PMID:18409188|PMID:20031618|PMID:20641121|PMID:21239446|PMID:21823217|PMID:21885653|PMID:21896538|PMID:22131351|PMID:22957257|PMID:22958901|PMID:23054336|PMID:23283745|PMID:23304510|PMID:23396983|PMID:23426552|PMID:23549607|PMID:23594557|PMID:23748425|PMID:24033266|PMID:24111713|PMID:24503780|PMID:24510615|PMID:24784157|PMID:24865491|PMID:24911555|PMID:25086479|PMID:25132132|PMID:25342278|PMID:25351510|PMID:25611685|PMID:25637381|PMID:25741868|PMID:25856671|PMID:25910212|PMID:26332594|PMID:26385864|PMID:26443374|PMID:26633542|PMID:26779504|PMID:27153395|PMID:27332903|PMID:27483260|PMID:27532257|PMID:27574918|PMID:27831900|PMID:28193612|PMID:28241245|PMID:28301460|PMID:28356264|PMID:28371863|PMID:28408708|PMID:28492532|PMID:28518168|PMID:28615295|PMID:28658286|PMID:28771489|PMID:28790153|PMID:28971120|PMID:29121657|PMID:29253866|PMID:29343803|PMID:29386531|PMID:29398688|PMID:29420653|PMID:29540472|PMID:29669825|PMID:29709087|PMID:29710196|PMID:29914921|PMID:30105547|PMID:30122538|PMID:30165862|PMID:30297972|PMID:30665703|PMID:30706179|PMID:30847666|PMID:31006259|PMID:31019283|PMID:31110529|PMID:31131433|PMID:31199839|PMID:31447099|PMID:31513939|PMID:31554435|PMID:31618753|PMID:31737537|PMID:32009526|PMID:32034976|PMID:32380161|PMID:32492895|PMID:32686758|PMID:32746448|PMID:32880476|PMID:32906206|PMID:33087929|PMID:33288880|PMID:33407484|PMID:33495596|PMID:33495597|PMID:33662488|PMID:33673806|PMID:33726816|PMID:34426522|PMID:35026164|PMID:35626289|PMID:35629155|PMID:35653365|PMID:36509720|PMID:37431535|PMID:6211078|PMID:8673105|PMID:9536098 9049972 Myl3 myosin light chain 3 gene DOID:2843 long QT syndrome ISO RGD:736456 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11174330|PMID:20641121|PMID:21239446|PMID:22131351|PMID:23426552|PMID:23748425|PMID:24033266|PMID:24111713|PMID:25741868|PMID:26779504|PMID:27483260|PMID:27574918|PMID:28492532|PMID:28518168|PMID:28971120|PMID:29343803|PMID:29710196|PMID:29914921|PMID:31006259|PMID:31019283|PMID:33288880 9049972 Myl3 myosin light chain 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:736456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Restrictive cardiomyopathy PMID:24111713|PMID:25132132|PMID:25741868|PMID:27532257|PMID:28492532 9049972 Myl3 myosin light chain 3 gene DOID:630 genetic disease ISO RGD:736456 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9049972 Myl3 myosin light chain 3 gene DOID:8398 osteoarthritis ISO RGD:736457 D RGD:9068941 20240215 MouseDO 9049972 Myl3 myosin light chain 3 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:736456 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 9049972 Myl3 myosin light chain 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736456 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Increased left ventricular wall thickness PMID:16754800|PMID:22958901|PMID:23549607|PMID:24033266|PMID:24111713|PMID:25132132|PMID:25637381|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30665703|PMID:33495597|PMID:35653365 9049982 Ankmy2 ankyrin repeat and MYND domain containing 2 gene DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 ISO RGD:1314392 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 PMID:23288328|PMID:28492532 9049982 Ankmy2 ankyrin repeat and MYND domain containing 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1314392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9049982 Ankmy2 ankyrin repeat and MYND domain containing 2 gene DOID:630 genetic disease ISO RGD:1314392 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049982 Ankmy2 ankyrin repeat and MYND domain containing 2 gene DOID:9002189 High Myopia ISO RGD:1314392 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 9049996 Wasf1 WASP family member 1 gene DOID:0080600 COVID-19 ISO RGD:1343996 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9049996 Wasf1 WASP family member 1 gene DOID:1059 intellectual disability ISO RGD:1343996 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:29961568|PMID:32581362|PMID:34356165|PMID:34845217 9049996 Wasf1 WASP family member 1 gene DOID:630 genetic disease ISO RGD:1343996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9049996 Wasf1 WASP family member 1 gene DOID:9001367 NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES ISO RGD:1343996 D RGD:7240710 20220323 OMIM 9049996 Wasf1 WASP family member 1 gene DOID:9001367 NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES ISO RGD:1343996 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with absent language and variable seizures | ClinVar Annotator: match by term: WASF1-related condition | ClinVar Annotator: match by term: WASF1-related neurodevelopmental disorder PMID:25741868|PMID:29961568|PMID:32581362|PMID:34356165|PMID:34845217 9049996 Wasf1 WASP family member 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:1343996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:29961568|PMID:32581362 9050020 Brd2 bromodomain containing 2 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350574 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9050020 Brd2 bromodomain containing 2 gene DOID:0050902 medulloblastoma ISO RGD:1350574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24231268 9050020 Brd2 bromodomain containing 2 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma ISO RGD:1350574 D RGD:9068941 20200609 RGD PMID:14563639|REF_RGD_ID:9586345 9050020 Brd2 bromodomain containing 2 gene DOID:1909 melanoma ISO RGD:1350574 D RGD:9068941 20200609 RGD protein:mRNA:skin: PMID:23950209|REF_RGD_ID:9586346 9050020 Brd2 bromodomain containing 2 gene DOID:2018 hyperinsulinism ISO RGD:1551876 D RGD:9068941 20200609 RGD PMID:19883376|REF_RGD_ID:9586446 9050020 Brd2 bromodomain containing 2 gene DOID:3068 glioblastoma ISO RGD:1350574 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27388964 9050020 Brd2 bromodomain containing 2 gene DOID:3159 photosensitivity disease susceptibility ISO RGD:1350574 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype: : PMID:16516380|REF_RGD_ID:9586343 9050020 Brd2 bromodomain containing 2 gene DOID:4890 juvenile myoclonic epilepsy ISO RGD:1350574 D RGD:9068941 20200609 RGD DNA:SNPs:promoter (human) PMID:12830434|REF_RGD_ID:1358444 9050020 Brd2 bromodomain containing 2 gene DOID:630 genetic disease ISO RGD:1350574 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050020 Brd2 bromodomain containing 2 gene DOID:707 B-cell lymphoma ISO RGD:1350574 D RGD:9068941 20200609 RGD PMID:14563639|REF_RGD_ID:9586345 9050020 Brd2 bromodomain containing 2 gene DOID:9970 obesity ISO RGD:1551876 D RGD:9068941 20200609 RGD PMID:19883376|REF_RGD_ID:9586446 9050044 Stard9 StAR related lipid transfer domain containing 9 gene DOID:0060041 autism spectrum disorder ISO RGD:1349851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9050044 Stard9 StAR related lipid transfer domain containing 9 gene DOID:2717 Bloom syndrome ISO RGD:1349851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9050044 Stard9 StAR related lipid transfer domain containing 9 gene DOID:3312 bipolar disorder ISO RGD:1349851 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 9050044 Stard9 StAR related lipid transfer domain containing 9 gene DOID:630 genetic disease ISO RGD:1349851 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9050044 Stard9 StAR related lipid transfer domain containing 9 gene DOID:9008086 Developmental Disabilities ISO RGD:1349851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9050044 Stard9 StAR related lipid transfer domain containing 9 gene DOID:9256 colorectal cancer ISO RGD:1349851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0050439 Usher syndrome ISO RGD:1320564 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hallgren syndrome PMID:10508521|PMID:11389483|PMID:12700176|PMID:20956273|PMID:24512366|PMID:25741868|PMID:26047050|PMID:28129017|PMID:28341475|PMID:28492532|PMID:29391521|PMID:30718709|PMID:33546218|PMID:34906470 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0050572 cone-rod dystrophy ISO RGD:1320564 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy PMID:25741868|PMID:28492532|PMID:32037395|PMID:36909829 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0050662 bestrophinopathy ISO RGD:1320564 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:17128490|PMID:17297678|PMID:23379534|PMID:24033266|PMID:25474345|PMID:25741868|PMID:27096895|PMID:27258436|PMID:27628848|PMID:28041643|PMID:28181551|PMID:28492532|PMID:28819299|PMID:29391521|PMID:33546218|PMID:36909829 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0050795 cone dystrophy ISO RGD:1320564 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:10508521|PMID:11231775|PMID:17128490|PMID:17297678|PMID:18055816|PMID:19401883|PMID:20301475|PMID:20956273|PMID:23379534|PMID:24033266|PMID:24512366|PMID:25474345|PMID:25741868|PMID:27096895|PMID:27113771|PMID:27258436|PMID:27628848|PMID:28041643|PMID:28181551|PMID:28492532|PMID:28819299|PMID:29391521|PMID:30718709|PMID:33546218|PMID:36909829 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0050817 Stargardt disease ISO RGD:1320564 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:10508521|PMID:22065545|PMID:23379534|PMID:25412400|PMID:25741868|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0060869 late-onset retinal degeneration ISO RGD:1320565 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.C249W (mouse) PMID:17234588|REF_RGD_ID:8552692 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset retinal dystrophy | ClinVar Annotator: match by term: Leber congenital amaurosis 2 PMID:10508521|PMID:15024725|PMID:16543197|PMID:17724218|PMID:17964524|PMID:19140180|PMID:22065545|PMID:23379534|PMID:23449718|PMID:25133751|PMID:25323024|PMID:25412400|PMID:25741868|PMID:26147992|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521|PMID:31456290|PMID:31896775|PMID:32295525|PMID:33342761|PMID:33546218 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0110016 Leber congenital amaurosis 2 ISO RGD:1320564 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Early-onset retinal dystrophy | ClinVar Annotator: match by term: Leber congenital amaurosis 2 PMID:10508521|PMID:15024725|PMID:16543197|PMID:17724218|PMID:17964524|PMID:19140180|PMID:22065545|PMID:23379534|PMID:23449718|PMID:25133751|PMID:25323024|PMID:25412400|PMID:25741868|PMID:26147992|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521|PMID:31456290|PMID:31896775|PMID:33342761|PMID:33546218 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0110078 Leber congenital amaurosis 1 ISO RGD:1320564 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10508521|PMID:11231775|PMID:12700176|PMID:12843338|PMID:15024725|PMID:15459956|PMID:16272259|PMID:17128490|PMID:17297678|PMID:18055816|PMID:19401883|PMID:20079931|PMID:20956273|PMID:22065545|PMID:23379534|PMID:23847139|PMID:24033266|PMID:24512366|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26312378|PMID:26667666|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27258436|PMID:27628848|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28492532|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29186038|PMID:29391521|PMID:30718709|PMID:31725702|PMID:31736247|PMID:32865313|PMID:33546218|PMID:33576794|PMID:34906470|PMID:36909829 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0110079 Leber congenital amaurosis 8 ISO RGD:1320564 D RGD:7240710 20180130 OMIM 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0110079 Leber congenital amaurosis 8 ISO RGD:1320564 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 8 PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12700176|PMID:12843338|PMID:1389483|PMID:1427914|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16505055|PMID:16543197|PMID:16936081|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18682808|PMID:19140180|PMID:19339744|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21484995|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22128245|PMID:22164218|PMID:22219627|PMID:22277662|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24618324|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25323024|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26147992|PMID:26312378|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27375279|PMID:27380427|PMID:27628848|PMID:27806333|PMID:27884173|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:28912962|PMID:29053603|PMID:2906847|PMID:29068479|PMID:29074561|PMID:29145603|PMID:29178642|PMID:29186038|PMID:29200130|PMID:29391521|PMID:29641573|PMID:30029497|PMID:30543658|PMID:30576320|PMID:30608181|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31103025|PMID:31456290|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31896775|PMID:32037395|PMID:32141364|PMID:32531858|PMID:32581362|PMID:32856788|PMID:32865313|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33921607|PMID:33970760|PMID:34758253|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35318874|PMID:36099972|PMID:36115989|PMID:36460718|PMID:36909829|PMID:9536098 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1320564 D RGD:7240710 20180130 OMIM 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0110358 retinitis pigmentosa 12 ISO RGD:1320564 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM | ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12573663|PMID:12700176|PMID:12843338|PMID:1389483|PMID:1427914|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16505055|PMID:16543197|PMID:16936081|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17660513|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18055821|PMID:18682808|PMID:19140180|PMID:19339744|PMID:19401883|PMID:19763152|PMID:19956407|PMID:20065226|PMID:20079931|PMID:20301475|PMID:20307669|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21484995|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22128245|PMID:22164218|PMID:22219627|PMID:22334370|PMID:22406018|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24618324|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25323024|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25611614|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26147992|PMID:26312378|PMID:26355662|PMID:26626312|PMID:26667666|PMID:26766544|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27032803|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27380427|PMID:27628848|PMID:27670293|PMID:27806333|PMID:27884173|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:28912962|PMID:29053603|PMID:2906847|PMID:29068479|PMID:29074561|PMID:29178642|PMID:29186038|PMID:29200130|PMID:29391521|PMID:29641573|PMID:29844330|PMID:30029497|PMID:30543658|PMID:30576320|PMID:30608181|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31103025|PMID:31106028|PMID:31322236|PMID:31456290|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31896775|PMID:32037395|PMID:32141364|PMID:32531858|PMID:32581362|PMID:32865313|PMID:32901921|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33633436|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34758253|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35318874|PMID:36099972|PMID:36460718|PMID:36909829|PMID:8069649|PMID:9536098 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0110829 retinitis pigmentosa-deafness syndrome ISO RGD:1320564 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome PMID:10508521|PMID:11389483|PMID:12700176|PMID:20956273|PMID:24512366|PMID:25741868|PMID:26047050|PMID:28129017|PMID:28341475|PMID:28492532|PMID:29391521|PMID:30718709|PMID:33546218|PMID:34906470 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0111541 pigmented paravenous chorioretinal atrophy ISO RGD:1320564 D RGD:7240710 20180130 OMIM 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:0111541 pigmented paravenous chorioretinal atrophy ISO RGD:1320564 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophy PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:1389483|PMID:1427914|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:16936081|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19339744|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21484995|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22219627|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27380427|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:28912962|PMID:29068479|PMID:29178642|PMID:29200130|PMID:29391521|PMID:29641573|PMID:30029497|PMID:30543658|PMID:30576320|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31896775|PMID:32037395|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:34758253|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35318874|PMID:36099972|PMID:36460718|PMID:36909829|PMID:9536098 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30718709|PMID:31456290|PMID:33546218|PMID:9536098 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30718709|PMID:31456290|PMID:33546218 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32581362|PMID:33090715|PMID:33546218|PMID:9536098 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32165824|PMID:32581362|PMID:33090715|PMID:33546218|PMID:9536098 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa ISO RGD:1320564 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:16936081|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27353947|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33546218|PMID:33579689|PMID:33921607|PMID:34884448|PMID:34906470|PMID:36909829|PMID:9536098 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:10584 retinitis pigmentosa susceptibility ISO RGD:1320564 D RGD:9068941 20200609 RGD DNA:missense mutations PMID:10508521|REF_RGD_ID:1600966 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:1059 intellectual disability ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:11231775|PMID:12843338|PMID:15024725|PMID:15459956|PMID:16272259|PMID:18055816|PMID:20079931|PMID:20591486|PMID:22164218|PMID:25741868|PMID:28492532|PMID:30718709 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320564 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26147992|PMID:26667666|PMID:26872607|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27628848|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29186038|PMID:29391521|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31896775|PMID:32141364|PMID:33342761|PMID:33546218|PMID:33576794 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:14791 Leber congenital amaurosis ISO RGD:1320564 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27628848|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29068479|PMID:29178642|PMID:29391521|PMID:29641573|PMID:30029497|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31725702|PMID:31736247|PMID:31896775|PMID:32141364|PMID:32581362|PMID:32865313|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33921607|PMID:34884448|PMID:34906470|PMID:35318874|PMID:36909829|PMID:9536098 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:4448 macular degeneration ISO RGD:1320564 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Macular dystrophy PMID:10508521|PMID:11389483|PMID:12700176|PMID:15024725|PMID:15459956|PMID:17128490|PMID:17297678|PMID:20683928|PMID:20956273|PMID:22065545|PMID:23379534|PMID:24033266|PMID:24512366|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27258436|PMID:27628848|PMID:28041643|PMID:28129017|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28819299|PMID:29391521|PMID:30718709|PMID:33546218|PMID:34906470|PMID:36909829 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:5327 retinal detachment ISO RGD:1320564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11389483 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:5419 schizophrenia ISO RGD:1320564 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:630 genetic disease ISO RGD:1320564 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:25741868|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:7736 retinal telangiectasia ISO RGD:1320564 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11389483 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:8501 fundus dystrophy ISO RGD:1320564 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:1427914|PMID:15024725|PMID:15459956|PMID:16199547|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21484995|PMID:21757580|PMID:22065545|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27380427|PMID:27628848|PMID:27806333|PMID:28041643|PMID:28129017|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28800606|PMID:28819299|PMID:28912962|PMID:29068479|PMID:29178642|PMID:29200130|PMID:29391521|PMID:29641573|PMID:30029497|PMID:30543658|PMID:30576320|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31736247|PMID:31896775|PMID:32581362|PMID:32856788|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33633436|PMID:34758253|PMID:34884448|PMID:34906470|PMID:35318874|PMID:36099972|PMID:36460718|PMID:36909829|PMID:9536098 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:9006597 Retinal Dysplasia treatment ISO RGD:1320565 D RGD:9068941 20200609 RGD PMID:24346171|REF_RGD_ID:8552698 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:9007488 Idiopathic Juxtafoveal Retinal Telangiectasia ISO RGD:1309947 D RGD:9068941 20200609 RGD PMID:25878282|REF_RGD_ID:13451131 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:9008296 Eye Abnormalities ISO RGD:1320564 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25741868 9050083 Crb1 crumbs cell polarity complex component 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320564 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9050103 Calm3 calmodulin 3 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:737387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 9050103 Calm3 calmodulin 3 gene DOID:0070533 long QT syndrome 16 ISO RGD:737387 D RGD:7240710 20200226 OMIM 9050103 Calm3 calmodulin 3 gene DOID:0070533 long QT syndrome 16 ISO RGD:737387 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 16 PMID:17576681|PMID:25460178|PMID:25741868|PMID:28492532|PMID:31454269|PMID:9536098 9050103 Calm3 calmodulin 3 gene DOID:0080326 familial hypertrophic cardiomyopathy susceptibility ISO RGD:737387 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:¿¿¿34T>A(human) PMID:19429631|REF_RGD_ID:13792494 9050103 Calm3 calmodulin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:737387 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:17576681|PMID:28492532|PMID:9536098 9050103 Calm3 calmodulin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:737387 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:17576681|PMID:25741868|PMID:28492532|PMID:31454269|PMID:9536098 9050103 Calm3 calmodulin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:737387 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:11569915|PMID:17576681|PMID:23388215|PMID:24563457|PMID:24816216|PMID:24958779|PMID:25460178|PMID:25741868|PMID:26969752|PMID:27516456|PMID:28491681|PMID:28492532|PMID:31454269|PMID:9536098 9050113 Gk5 glycerol kinase 5 gene DOID:630 genetic disease ISO RGD:1606415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050136 Angpt1 angiopoietin 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733136 D RGD:9068941 20220811 RGD protein:decreased expression:oral mucosa (human) PMID:26044849|REF_RGD_ID:153323290 9050136 Angpt1 angiopoietin 1 gene DOID:0080940 hereditary angioedema type III ISO RGD:733136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary angioedema, type III PMID:25741868|PMID:28492532 9050136 Angpt1 angiopoietin 1 gene DOID:10286 prostate carcinoma ISO RGD:733136 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:11326698|REF_RGD_ID:1643336 9050136 Angpt1 angiopoietin 1 gene DOID:10763 hypertension ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:18285514|REF_RGD_ID:2316068 9050136 Angpt1 angiopoietin 1 gene DOID:10763 hypertension ISO RGD:733136 D RGD:9068941 20200609 RGD protein:increased expression:plasma, platelet PMID:16942942|REF_RGD_ID:1626157 9050136 Angpt1 angiopoietin 1 gene DOID:10808 gastric ulcer ISO RGD:628896 D RGD:9068941 20200609 RGD protein:increased expression:stomach PMID:12768384|REF_RGD_ID:1601496 9050136 Angpt1 angiopoietin 1 gene DOID:2316 brain ischemia ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:17637706|REF_RGD_ID:1643339 9050136 Angpt1 angiopoietin 1 gene DOID:2394 ovarian cancer ISO RGD:733136 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:12138242|REF_RGD_ID:2293864 9050136 Angpt1 angiopoietin 1 gene DOID:2527 nephrosis ISO RGD:628896 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:glomerulus PMID:16626513|REF_RGD_ID:1626164 9050136 Angpt1 angiopoietin 1 gene DOID:2671 transitional cell carcinoma disease_progression ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:15517881|REF_RGD_ID:2293863 9050136 Angpt1 angiopoietin 1 gene DOID:2870 endometrial adenocarcinoma ISO RGD:733136 D RGD:9068941 20200609 RGD protein:increased expression:endometrium epithelium PMID:17295646|REF_RGD_ID:2293852 9050136 Angpt1 angiopoietin 1 gene DOID:4450 renal cell carcinoma severity ISO RGD:733136 D RGD:9068941 20200609 RGD mRNA:altered expression:kidney PMID:17505508|REF_RGD_ID:1643335 9050136 Angpt1 angiopoietin 1 gene DOID:5844 myocardial infarction ISO RGD:628896 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:myocardium PMID:15364619|REF_RGD_ID:1626168 9050136 Angpt1 angiopoietin 1 gene DOID:630 genetic disease ISO RGD:733136 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050136 Angpt1 angiopoietin 1 gene DOID:6432 pulmonary hypertension ISO RGD:628896 D RGD:9068941 20200609 RGD protein:decreased expression:pulmonary artery PMID:18073453|REF_RGD_ID:2316069 9050136 Angpt1 angiopoietin 1 gene DOID:8719 in situ carcinoma ISO RGD:628896 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland PMID:15459484|REF_RGD_ID:1626167 9050136 Angpt1 angiopoietin 1 gene DOID:8947 diabetic retinopathy ISO RGD:733136 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:12000720|REF_RGD_ID:2313818 9050136 Angpt1 angiopoietin 1 gene DOID:9000040 Hypertrophy ISO RGD:733136 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18502941 9050136 Angpt1 angiopoietin 1 gene DOID:9000165 Neuromuscular Manifestations ISO RGD:733136 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 9050136 Angpt1 angiopoietin 1 gene DOID:9000784 Fibrosis ISO RGD:733136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480750|PMID:18626492 9050136 Angpt1 angiopoietin 1 gene DOID:9001573 Experimental Liver Cirrhosis disease_progression ISO RGD:628896 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:17935226|REF_RGD_ID:1643338 9050136 Angpt1 angiopoietin 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:18344375|REF_RGD_ID:2316067 9050136 Angpt1 angiopoietin 1 gene DOID:9002955 Nerve Degeneration ISO RGD:733136 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 9050136 Angpt1 angiopoietin 1 gene DOID:9004009 Reperfusion Injury ISO RGD:733136 D RGD:9068941 20200609 RGD PMID:19885826|REF_RGD_ID:2316041 9050136 Angpt1 angiopoietin 1 gene DOID:9004484 Sepsis ISO RGD:733136 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16005988 9050136 Angpt1 angiopoietin 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:628896 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland PMID:15459484|REF_RGD_ID:1626167 9050136 Angpt1 angiopoietin 1 gene DOID:9005372 Inflammation ISO RGD:733136 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18480750 9050136 Angpt1 angiopoietin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628896 D RGD:9068941 20200609 RGD PMID:17294737|REF_RGD_ID:1626163 9050136 Angpt1 angiopoietin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:628896 D RGD:9068941 20200609 RGD protein:increased expression:retina PMID:15047628|REF_RGD_ID:2313817 9050136 Angpt1 angiopoietin 1 gene DOID:9007096 Stroke ISO RGD:628896 D RGD:9068941 20200609 RGD PMID:11822892|PMID:17356562|REF_RGD_ID:1626162|REF_RGD_ID:704373 9050136 Angpt1 angiopoietin 1 gene DOID:9007361 Hereditary Angioedema 5 ISO RGD:733136 D RGD:7240710 20210616 OMIM 9050136 Angpt1 angiopoietin 1 gene DOID:9007361 Hereditary Angioedema 5 ISO RGD:733136 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angioedema, hereditary, 5 PMID:28492532|PMID:28601681|PMID:30689269 9050136 Angpt1 angiopoietin 1 gene DOID:9007402 Gliosis ISO RGD:733136 D RGD:9068941 20210514 CTD CTD Direct Evidence: therapeutic PMID:30476904 9050151 Rps18 ribosomal protein S18 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1342484 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9050151 Rps18 ribosomal protein S18 gene DOID:0070035 autosomal dominant intellectual developmental disorder 5 ISO RGD:1342484 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 PMID:28492532 9050174 Adgrg5 adhesion G protein-coupled receptor G5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1313657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9050174 Adgrg5 adhesion G protein-coupled receptor G5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1313657 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9050174 Adgrg5 adhesion G protein-coupled receptor G5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1313657 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9050174 Adgrg5 adhesion G protein-coupled receptor G5 gene DOID:630 genetic disease ISO RGD:1313657 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050197 Traf7 TNF receptor associated factor 7 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1604273 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868 9050197 Traf7 TNF receptor associated factor 7 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:28492532 9050197 Traf7 TNF receptor associated factor 7 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1604273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9050197 Traf7 TNF receptor associated factor 7 gene DOID:1788 peritoneal mesothelioma ISO RGD:1604273 D RGD:9068941 20220224 RGD DNA:missense mutations:multiple PMID:30171198|REF_RGD_ID:151356964 9050197 Traf7 TNF receptor associated factor 7 gene DOID:1790 malignant mesothelioma ISO RGD:1604273 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26928227 9050197 Traf7 TNF receptor associated factor 7 gene DOID:1826 epilepsy ISO RGD:1604273 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9050197 Traf7 TNF receptor associated factor 7 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9050197 Traf7 TNF receptor associated factor 7 gene DOID:2871 endometrial carcinoma ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 9050197 Traf7 TNF receptor associated factor 7 gene DOID:630 genetic disease ISO RGD:1604273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25961944|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067 9050197 Traf7 TNF receptor associated factor 7 gene DOID:684 hepatocellular carcinoma ISO RGD:1604273 D RGD:9068941 20220224 RGD mRNA:increased expression:liver PMID:31730901|REF_RGD_ID:151356961 9050197 Traf7 TNF receptor associated factor 7 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:1604273 D RGD:9068941 20220224 RGD PMID:31730901|REF_RGD_ID:151356961 9050197 Traf7 TNF receptor associated factor 7 gene DOID:746 adenomatoid tumor ISO RGD:1604273 D RGD:9068941 20220224 RGD DNA:missense mutations:multiple PMID:29148537|REF_RGD_ID:151356962 9050197 Traf7 TNF receptor associated factor 7 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 9050197 Traf7 TNF receptor associated factor 7 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1559653 D RGD:9068941 20220224 RGD mRNA, protein:increased expression:spinal cord PMID:30100091|REF_RGD_ID:151356968 9050197 Traf7 TNF receptor associated factor 7 gene DOID:9002555 Cardiac, Facial, and Digital Anomalies with Developmental Delay ISO RGD:1604273 D RGD:7240710 20190315 OMIM 9050197 Traf7 TNF receptor associated factor 7 gene DOID:9002555 Cardiac, Facial, and Digital Anomalies with Developmental Delay ISO RGD:1604273 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac, facial, and digital anomalies with developmental delay | ClinVar Annotator: match by term: TRAF7-Related Disorder | ClinVar Annotator: match by term: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome PMID:25741868|PMID:25961944|PMID:29961569|PMID:32376980|PMID:32399599 9050197 Traf7 TNF receptor associated factor 7 gene DOID:9002555 Cardiac, Facial, and Digital Anomalies with Developmental Delay ISO RGD:1604273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac, facial, and digital anomalies with developmental delay | ClinVar Annotator: match by term: TRAF7-Related Disorder | ClinVar Annotator: match by term: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | ClinVar Annotator: match by term: TRAF7-related syndrome PMID:25741868|PMID:25961944|PMID:28492532|PMID:29961569|PMID:32376980|PMID:32399599|PMID:32459067 9050197 Traf7 TNF receptor associated factor 7 gene DOID:9008086 Developmental Disabilities ISO RGD:1604273 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9050234 Lrrc53 leucine rich repeat containing 53 gene DOID:630 genetic disease ISO RGD:2292704 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9050234 Lrrc53 leucine rich repeat containing 53 gene DOID:9000652 Cardiac Conduction Disease with or without Dilated Cardiomyopathy ISO RGD:2292704 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30010057|PMID:34203974 9050250 Trim7 tripartite motif containing 7 gene DOID:0080600 COVID-19 ISO RGD:1316458 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9050250 Trim7 tripartite motif containing 7 gene DOID:630 genetic disease ISO RGD:1316458 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050262 Fam170b family with sequence similarity 170 member B gene DOID:11372 megacolon ISO RGD:1346857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9050262 Fam170b family with sequence similarity 170 member B gene DOID:5419 schizophrenia ISO RGD:1346857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9050262 Fam170b family with sequence similarity 170 member B gene DOID:630 genetic disease ISO RGD:1346857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050268 Bpifb2 BPI fold containing family B member 2 gene DOID:630 genetic disease ISO RGD:1322016 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050290 Tbc1d15 TBC1 domain family member 15 gene DOID:630 genetic disease ISO RGD:1317393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050331 Morn1 MORN repeat containing 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9050331 Morn1 MORN repeat containing 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9050331 Morn1 MORN repeat containing 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1602465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9050331 Morn1 MORN repeat containing 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 9050331 Morn1 MORN repeat containing 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9050331 Morn1 MORN repeat containing 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9050331 Morn1 MORN repeat containing 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9050331 Morn1 MORN repeat containing 1 gene DOID:11612 polycystic ovary syndrome ISO RGD:1602465 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9050331 Morn1 MORN repeat containing 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9050331 Morn1 MORN repeat containing 1 gene DOID:630 genetic disease ISO RGD:1602465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050331 Morn1 MORN repeat containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602465 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9050331 Morn1 MORN repeat containing 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1602465 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9050331 Morn1 MORN repeat containing 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1602465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9050349 Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:1344400 D RGD:7240710 20180130 OMIM 9050349 Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency ISO RGD:1344400 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency PMID:10599740|PMID:11158067|PMID:12429500|PMID:16199547|PMID:17466011|PMID:17509588|PMID:17551466|PMID:17576681|PMID:19498320|PMID:21214500|PMID:22212252|PMID:23295294|PMID:23796702|PMID:24025597|PMID:24033266|PMID:25525159|PMID:25740850|PMID:25741868|PMID:27163392|PMID:27898418|PMID:27899157|PMID:28492532|PMID:28739554|PMID:2918056|PMID:29397602|PMID:3066852|PMID:30668521|PMID:31614207|PMID:32297288|PMID:33516834|PMID:36154887|PMID:36606580|PMID:598011|PMID:8075637|PMID:8550739|PMID:8626842|PMID:9467575|PMID:9536098|PMID:9709959|PMID:9758445 9050349 Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:1059 intellectual disability ISO RGD:1344400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9050349 Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:10652 Alzheimer's disease ISO RGD:1344400 D RGD:9068941 20200609 RGD mRNA:altered expression:cerebellum, hippocampus (human) PMID:18180323|REF_RGD_ID:4889108 9050349 Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:1923 disorder of sexual development ISO RGD:1344400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 9050349 Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:3765 pseudohermaphroditism ISO RGD:1344400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pseudohermaphroditism PMID:10599740|PMID:12429500|PMID:16199547|PMID:17509588|PMID:17551466|PMID:17576681|PMID:19498320|PMID:21214500|PMID:22212252|PMID:23295294|PMID:23796702|PMID:24025597|PMID:24033266|PMID:25525159|PMID:25740850|PMID:25741868|PMID:27163392|PMID:27899157|PMID:28492532|PMID:2918056|PMID:30668521|PMID:32297288|PMID:8075637|PMID:8550739|PMID:8626842|PMID:9536098|PMID:9758445 9050349 Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:630 genetic disease ISO RGD:1344400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10599740|PMID:16199547|PMID:17509588|PMID:17576681|PMID:23295294|PMID:23796702|PMID:24033266|PMID:25525159|PMID:25740850|PMID:25741868|PMID:27163392|PMID:28492532|PMID:30668521|PMID:32297288|PMID:8075637|PMID:8550739|PMID:9536098 9050349 Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1344400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12210481 9050349 Hsd17b3 hydroxysteroid 17-beta dehydrogenase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:621805 D RGD:9068941 20200609 RGD mRNA:decreased expression:testis, Leydig cell (rat) PMID:18481435|REF_RGD_ID:4889107 9050368 Fxr2 FMR1 autosomal homolog 2 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1315950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9050368 Fxr2 FMR1 autosomal homolog 2 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1315950 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 9050368 Fxr2 FMR1 autosomal homolog 2 gene DOID:12177 common variable immunodeficiency ISO RGD:1315950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9050368 Fxr2 FMR1 autosomal homolog 2 gene DOID:2729 dyskeratosis congenita ISO RGD:1315950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9050368 Fxr2 FMR1 autosomal homolog 2 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1315950 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 9050368 Fxr2 FMR1 autosomal homolog 2 gene DOID:630 genetic disease ISO RGD:1315950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050389 Ppp2cb protein phosphatase 2 catalytic subunit beta gene DOID:630 genetic disease ISO RGD:736927 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050400 Cgas cyclic GMP-AMP synthase gene DOID:3659 sialuria ISO RGD:1353865 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Salla disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:28492532 9050400 Cgas cyclic GMP-AMP synthase gene DOID:630 genetic disease ISO RGD:1353865 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050409 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:0060479 Shwachman-Diamond syndrome ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883 9050409 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:0060602 alpha-methylacyl-CoA racemase deficiency ISO RGD:734039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alpha-methylacyl-CoA racemase deficiency PMID:28492532 9050409 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:630 genetic disease ISO RGD:734039 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28062395|PMID:28492532|PMID:29700810 9050409 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9001510 Funnel Chest ISO RGD:734039 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pectus excavatum PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:30755392 9050409 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734039 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9050409 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9004906 Congenital Bone Marrow Failure Syndromes ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inherited bone marrow failure syndrome PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883 9050409 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:734039 D RGD:7240710 20190315 OMIM 9050409 Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 gene DOID:9005307 Bone Marrow Failure Syndrome 3 ISO RGD:734039 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone marrow failure syndrome 3 | ClinVar Annotator: match by term: DNAJC21-related condition PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:29146883|PMID:29700810 9050430 MIF macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:734203 D RGD:9068941 20200609 RGD acute lung injury; DNA:SNPs: : PMID:17585860|REF_RGD_ID:4891012 9050430 Mif macrophage migration inhibitory factor gene DOID:0050426 Stevens-Johnson syndrome ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9372356 9050430 Mif macrophage migration inhibitory factor gene DOID:0050700 cardiomyopathy ISO RGD:621163 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:15879312|REF_RGD_ID:1641991 9050430 Mif macrophage migration inhibitory factor gene DOID:0060041 autism spectrum disorder ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30503813 9050430 Mif macrophage migration inhibitory factor gene DOID:0060180 colitis ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:17324399|REF_RGD_ID:1641979 9050430 Mif macrophage migration inhibitory factor gene DOID:0060180 colitis ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12105854 9050430 Mif macrophage migration inhibitory factor gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:12612911|REF_RGD_ID:727512 9050430 Mif macrophage migration inhibitory factor gene DOID:0081135 agammaglobulinemia 2 ISO RGD:734203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive PMID:28492532 9050430 Mif macrophage migration inhibitory factor gene DOID:10533 viral pneumonia ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:19941385|REF_RGD_ID:4891005 9050430 Mif macrophage migration inhibitory factor gene DOID:10763 hypertension ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:19799867|REF_RGD_ID:4890974 9050430 Mif macrophage migration inhibitory factor gene DOID:11396 pulmonary edema ISO RGD:734204 D RGD:9068941 20200609 RGD associated with hemorrhage PMID:17277045|REF_RGD_ID:4891015 9050430 Mif macrophage migration inhibitory factor gene DOID:11650 bronchopulmonary dysplasia ISO RGD:734203 D RGD:9068941 20200609 RGD associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung PMID:18097062|REF_RGD_ID:4891007 9050430 Mif macrophage migration inhibitory factor gene DOID:1205 allergic disease ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter: PMID:14962818|REF_RGD_ID:4891046 9050430 Mif macrophage migration inhibitory factor gene DOID:12716 newborn respiratory distress syndrome ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:18097062|REF_RGD_ID:4891007 9050430 Mif macrophage migration inhibitory factor gene DOID:12849 autistic disorder ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18676531 9050430 Mif macrophage migration inhibitory factor gene DOID:14115 toxic shock syndrome ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:17381395|PMID:17565848|REF_RGD_ID:1641978|REF_RGD_ID:4891013 9050430 Mif macrophage migration inhibitory factor gene DOID:1485 cystic fibrosis severity ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:repeats:promoter PMID:16179637|REF_RGD_ID:4891053 9050430 Mif macrophage migration inhibitory factor gene DOID:1596 depressive disorder ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20177408 9050430 Mif macrophage migration inhibitory factor gene DOID:1679 cystitis ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:19066630|REF_RGD_ID:4890977 9050430 Mif macrophage migration inhibitory factor gene DOID:1679 cystitis ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nervous system PMID:12853844|REF_RGD_ID:1642002 9050430 Mif macrophage migration inhibitory factor gene DOID:1790 malignant mesothelioma ISO RGD:734203 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25162674 9050430 Mif macrophage migration inhibitory factor gene DOID:1826 epilepsy ISO RGD:734203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9050430 Mif macrophage migration inhibitory factor gene DOID:2030 anxiety disorder ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20177408 9050430 Mif macrophage migration inhibitory factor gene DOID:2349 arteriosclerosis ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:17435771|REF_RGD_ID:1641949 9050430 Mif macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:16455830|REF_RGD_ID:1641985 9050430 Mif macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs755622(human) PMID:19317738|REF_RGD_ID:4891059 9050430 Mif macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:734203 D RGD:9068941 20200609 RGD protein:increased expression:bronchoalveolar lavage fluid PMID:9637721|REF_RGD_ID:4891043 9050430 Mif macrophage migration inhibitory factor gene DOID:2841 asthma ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:17373669|REF_RGD_ID:4891035 9050430 Mif macrophage migration inhibitory factor gene DOID:2841 asthma severity ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:repeats:promoter PMID:16186482|REF_RGD_ID:4891052 9050430 Mif macrophage migration inhibitory factor gene DOID:2957 pulmonary tuberculosis susceptibility ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:SNP: :rs755622 (human) PMID:20439102|REF_RGD_ID:4891004 9050430 Mif macrophage migration inhibitory factor gene DOID:305 carcinoma ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9050430 Mif macrophage migration inhibitory factor gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:734203 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:26752192 9050430 Mif macrophage migration inhibitory factor gene DOID:3612 retinitis ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:10617911|REF_RGD_ID:1642013 9050430 Mif macrophage migration inhibitory factor gene DOID:3908 lung non-small cell carcinoma ISO RGD:734203 D RGD:9068941 20200609 RGD PMID:12576459|REF_RGD_ID:4891022 9050430 Mif macrophage migration inhibitory factor gene DOID:4483 rhinitis ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:15922619|REF_RGD_ID:4891056 9050430 Mif macrophage migration inhibitory factor gene DOID:4483 rhinitis severity ISO RGD:734203 D RGD:9068941 20200609 RGD protein:increased expression:serum, nasal mucosa PMID:15053202|REF_RGD_ID:4891045 9050430 Mif macrophage migration inhibitory factor gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:10780884|REF_RGD_ID:1642011 9050430 Mif macrophage migration inhibitory factor gene DOID:5154 borna disease ISO RGD:621163 D RGD:9068941 20200609 RGD protein:increased expression:astrocyte PMID:11870869|REF_RGD_ID:1642006 9050430 Mif macrophage migration inhibitory factor gene DOID:5419 schizophrenia ISO RGD:734203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9050430 Mif macrophage migration inhibitory factor gene DOID:552 pneumonia severity ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:repeats:promoter PMID:19346297|REF_RGD_ID:4891058 9050430 Mif macrophage migration inhibitory factor gene DOID:557 kidney disease ISO RGD:621163 D RGD:9068941 20200609 RGD associated with Hypercholesterolemia;mRNA:increased expression:glomerulus PMID:9158105|REF_RGD_ID:1641957 9050430 Mif macrophage migration inhibitory factor gene DOID:5844 myocardial infarction ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:myocardium PMID:12704210|REF_RGD_ID:1642003 9050430 Mif macrophage migration inhibitory factor gene DOID:5844 myocardial infarction ISO RGD:734203 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11589847|REF_RGD_ID:1642008 9050430 Mif macrophage migration inhibitory factor gene DOID:630 genetic disease ISO RGD:734203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050430 Mif macrophage migration inhibitory factor gene DOID:6432 pulmonary hypertension ISO RGD:734203 D RGD:9068941 20200609 RGD associated with sclerodema, systemic; protein:increased expression:serum PMID:18618071|REF_RGD_ID:4891006 9050430 Mif macrophage migration inhibitory factor gene DOID:7148 rheumatoid arthritis ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16872482 9050430 Mif macrophage migration inhibitory factor gene DOID:820 myocarditis onset ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:15276025|REF_RGD_ID:1641993 9050430 Mif macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:621163 D RGD:9068941 20200609 RGD acute lung injury PMID:9700137|REF_RGD_ID:4891023 9050430 Mif macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:734204 D RGD:9068941 20200609 RGD acute lung injury; associated with pancreatitis and endotoxemia PMID:16574946|REF_RGD_ID:4891017 9050430 Mif macrophage migration inhibitory factor gene DOID:850 lung disease ISO RGD:734204 D RGD:9068941 20200609 RGD acute lung injury; mRNA, protein:increased expression, increased secretion:lung, serum PMID:17585860|REF_RGD_ID:4891012 9050430 Mif macrophage migration inhibitory factor gene DOID:9000039 Spinal Cord Injuries ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA:increased expression:spinal cord, microglial cell PMID:15067555|REF_RGD_ID:1641997 9050430 Mif macrophage migration inhibitory factor gene DOID:9000058 Keloid ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 9050430 Mif macrophage migration inhibitory factor gene DOID:9000099 Experimental Colitis severity ISO RGD:734204 D RGD:9068941 20200806 RGD PMID:15807847|REF_RGD_ID:36947390 9050430 Mif macrophage migration inhibitory factor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9050430 Mif macrophage migration inhibitory factor gene DOID:9000528 Coronary Disease ISO RGD:621163 D RGD:9068941 20200609 RGD coronary occlusion; mRNA:increased expression:myocardium PMID:20367970|REF_RGD_ID:4890973 9050430 Mif macrophage migration inhibitory factor gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:17373669|REF_RGD_ID:4891035 9050430 Mif macrophage migration inhibitory factor gene DOID:9000808 Hypercholesterolemia ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA:increased expression:glomerulus PMID:9158105|REF_RGD_ID:1641957 9050430 Mif macrophage migration inhibitory factor gene DOID:9000918 Disease Progression ISO RGD:734203 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34797429 9050430 Mif macrophage migration inhibitory factor gene DOID:9000998 Brain Injuries ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:15922484|REF_RGD_ID:1641989 9050430 Mif macrophage migration inhibitory factor gene DOID:9001285 Alcoholic Liver Diseases ISO RGD:621163 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:11798463|REF_RGD_ID:1642007 9050430 Mif macrophage migration inhibitory factor gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621163 D RGD:9068941 20200609 RGD protein:increased expression:hepatocyte PMID:14706927|REF_RGD_ID:1642000 9050430 Mif macrophage migration inhibitory factor gene DOID:9002019 Granuloma ISO RGD:621163 D RGD:9068941 20200609 RGD associated with Kidney Diseases PMID:11126199|REF_RGD_ID:1642009 9050430 Mif macrophage migration inhibitory factor gene DOID:9002304 Prostatic Neoplasms ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17728788 9050430 Mif macrophage migration inhibitory factor gene DOID:9002457 Experimental Arthritis ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:10765927|REF_RGD_ID:1642012 9050430 Mif macrophage migration inhibitory factor gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis ISO RGD:734203 D RGD:9068941 20230518 CTD CTD Direct Evidence: marker/mechanism 9050430 Mif macrophage migration inhibitory factor gene DOID:9002765 Systemic Juvenile Rheumatoid Arthritis susceptibility ISO RGD:734203 D RGD:7240710 20230505 OMIM 9050430 Mif macrophage migration inhibitory factor gene DOID:9004009 Reperfusion Injury disease_progression ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:18055556|REF_RGD_ID:4891010 9050430 Mif macrophage migration inhibitory factor gene DOID:9004484 Sepsis ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9892616 9050430 Mif macrophage migration inhibitory factor gene DOID:9004484 Sepsis ISO RGD:734203 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17585860|REF_RGD_ID:4891012 9050430 Mif macrophage migration inhibitory factor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12376462 9050430 Mif macrophage migration inhibitory factor gene DOID:9005372 Inflammation ISO RGD:621163 D RGD:9068941 20200609 RGD PMID:16455830|REF_RGD_ID:1641985 9050430 Mif macrophage migration inhibitory factor gene DOID:9005372 Inflammation ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20127836 9050430 Mif macrophage migration inhibitory factor gene DOID:9005372 Inflammation ISO RGD:734204 D RGD:9068941 20200609 RGD PMID:17435771|REF_RGD_ID:1641949 9050430 Mif macrophage migration inhibitory factor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:734204 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:15790730|REF_RGD_ID:1641951 9050430 Mif macrophage migration inhibitory factor gene DOID:9005930 Endotoxemia ISO RGD:621163 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16601957|REF_RGD_ID:1641983 9050430 Mif macrophage migration inhibitory factor gene DOID:9007096 Stroke ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:brain PMID:19131653|REF_RGD_ID:4890976 9050430 Mif macrophage migration inhibitory factor gene DOID:9007096 Stroke ISO RGD:734203 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:leukocytes, mononuclear, plasma PMID:19131653|REF_RGD_ID:4890976 9050430 Mif macrophage migration inhibitory factor gene DOID:9007253 Hamartoma ISO RGD:734203 D RGD:9068941 20200609 RGD associated with lung disease; protein:increased expression:lung PMID:18074864|REF_RGD_ID:4891009 9050430 Mif macrophage migration inhibitory factor gene DOID:9007692 Insulin Resistance ISO RGD:734203 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:12552367|REF_RGD_ID:1641955 9050430 Mif macrophage migration inhibitory factor gene DOID:9007730 Burns ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, serum PMID:14625478|REF_RGD_ID:1642001 9050430 Mif macrophage migration inhibitory factor gene DOID:9007840 Chylothorax ISO RGD:734203 D RGD:9068941 20200609 RGD protein:increased expression:amniotic fluid PMID:17295350|REF_RGD_ID:4891014 9050430 Mif macrophage migration inhibitory factor gene DOID:9008023 Memory Disorders ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20177408 9050430 Mif macrophage migration inhibitory factor gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:734203 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung; DNA:SNP: :rs755622(human) PMID:20811626|REF_RGD_ID:5131286 9050430 Mif macrophage migration inhibitory factor gene DOID:9008939 Breast Neoplasms ISO RGD:734203 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19602265 9050430 Mif macrophage migration inhibitory factor gene DOID:9352 type 2 diabetes mellitus ISO RGD:621163 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney cortex, epithelial cell PMID:16571782|REF_RGD_ID:1641984 9050430 Mif macrophage migration inhibitory factor gene DOID:9970 obesity ISO RGD:734203 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter PMID:16247506|REF_RGD_ID:1641950 9050430 Mif macrophage migration inhibitory factor gene DOID:9970 obesity ISO RGD:734203 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:mononuclear cell, plasma PMID:15472203|REF_RGD_ID:1641953 9050437 Fam156a family with sequence similarity 156 member A gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9050437 Fam156a family with sequence similarity 156 member A gene DOID:12849 autistic disorder ISO RGD:1346543 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9050442 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:0070165 spermatogenic failure 18 ISO RGD:1348717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 18 9050442 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:1059 intellectual disability ISO RGD:1348717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9050442 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:2773 contact dermatitis ISO RGD:1348717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9050442 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:630 genetic disease ISO RGD:1348717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050442 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348717 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9050442 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:9006298 Stankiewicz-Isidor Syndrome ISO RGD:1348717 D RGD:7240710 20190315 OMIM 9050442 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:9006298 Stankiewicz-Isidor Syndrome ISO RGD:1348717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Stankiewicz-Isidor syndrome PMID:25741868|PMID:28132691 9050442 Psmd12 proteasome 26S subunit, non-ATPase 12 gene DOID:9008086 Developmental Disabilities ISO RGD:1348717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9050458 LOC102010235 cytochrome P450 4X1 gene DOID:0060041 autism spectrum disorder ISO RGD:731278 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9050458 LOC102010235 cytochrome P450 4X1 gene DOID:630 genetic disease ISO RGD:731278 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050485 Gpr18 G protein-coupled receptor 18 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1344300 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 9050485 Gpr18 G protein-coupled receptor 18 gene DOID:4621 holoprosencephaly ISO RGD:1344300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 9050485 Gpr18 G protein-coupled receptor 18 gene DOID:630 genetic disease ISO RGD:1344300 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050485 Gpr18 G protein-coupled receptor 18 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1344300 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9050498 Abracl ABRA C-terminal like gene DOID:630 genetic disease ISO RGD:1351168 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050498 Abracl ABRA C-terminal like gene DOID:9005986 Familial Behcet-Like Autoinflammatory Syndrome ISO RGD:1351168 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like PMID:25741868 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia ISO RGD:731297 D RGD:7240710 20180130 OMIM 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia ISO RGD:731297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia PMID:23643382|PMID:25741868|PMID:28492532 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:11832 visual epilepsy ISO RGD:70978 D RGD:9068941 20200609 RGD PMID:8626780|REF_RGD_ID:728656 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:11832 visual epilepsy ISO RGD:70978 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:15496935|REF_RGD_ID:2316089 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:1612 breast cancer ISO RGD:731297 D RGD:9068941 20200609 RGD protein:increased expression:mammary gland PMID:12618338|REF_RGD_ID:7495809 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:2316 brain ischemia ISO RGD:70978 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:10908038|REF_RGD_ID:2316092 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:305 carcinoma ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:3068 glioblastoma ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21499306 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:4989 pancreatitis ISO RGD:70978 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:11027531|REF_RGD_ID:2301725 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:630 genetic disease ISO RGD:731297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:9002211 Hyperalgesia treatment ISO RGD:70978 D RGD:9068941 20200609 RGD associated with Sciatic Neuropathy PMID:22901764|REF_RGD_ID:7771531 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:9003971 Postoperative Pain ISO RGD:731298 D RGD:9068941 20200609 RGD associated with Inflammation PMID:24155322|REF_RGD_ID:7771585 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:9007102 Myocardial Ischemia ISO RGD:731297 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9050514 Dusp6 dual specificity phosphatase 6 gene DOID:9065 leishmaniasis treatment ISO RGD:731298 D RGD:9068941 20200609 RGD PMID:21471446|REF_RGD_ID:7771536 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:0050144 Kartagener syndrome ISO RGD:1346895 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:10577904|PMID:11231901|PMID:16199547|PMID:16858015|PMID:17576681|PMID:18434704|PMID:18492703|PMID:19300481|PMID:21143860|PMID:21270641|PMID:22416021|PMID:23477994|PMID:24033266|PMID:24498942|PMID:24912412|PMID:25741868|PMID:25802884|PMID:26918822|PMID:28152038|PMID:28492532|PMID:28939216|PMID:28952366|PMID:29363216|PMID:30067075|PMID:30868567|PMID:31589614|PMID:33032373|PMID:33447612|PMID:9536098 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:0050144 Kartagener syndrome susceptibility ISO RGD:1346895 D RGD:9068941 20200609 RGD DNA:missense mutation, insertion, deletion:exon, intron:p.G515S PMID:11231901|REF_RGD_ID:1601083 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1556874 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1346895 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1346895 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:0080942 anauxetic dysplasia ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:0110594 primary ciliary dyskinesia 1 ISO RGD:1346895 D RGD:7240710 20200226 OMIM 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:0110594 primary ciliary dyskinesia 1 ISO RGD:1346895 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: DNAI1-related condition PMID:11231901|PMID:16858015|PMID:17576681|PMID:19300481|PMID:21143860|PMID:25741868|PMID:25802884|PMID:28492532|PMID:30868567|PMID:31772028|PMID:33715250|PMID:9536098 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:12336 male infertility ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:25741868|PMID:28492532 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:5223 infertility ISO RGD:1346895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:25741868|PMID:28492532 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:630 genetic disease ISO RGD:1346895 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10577904|PMID:11231901|PMID:16858015|PMID:17576681|PMID:18434704|PMID:21143860|PMID:23477994|PMID:24033266|PMID:25741868|PMID:26918822|PMID:28492532|PMID:29363216|PMID:30067075|PMID:9536098 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1346895 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:10577904|PMID:11231901|PMID:11713099|PMID:16199547|PMID:16858015|PMID:17576681|PMID:18434704|PMID:18492703|PMID:19300481|PMID:19675306|PMID:21143860|PMID:21270641|PMID:23477994|PMID:24033266|PMID:24498942|PMID:25741868|PMID:25802884|PMID:26918822|PMID:28152038|PMID:28492532|PMID:28939216|PMID:28952366|PMID:29095814|PMID:29363216|PMID:30067075|PMID:30300419|PMID:30868567|PMID:31130284|PMID:31213628|PMID:31589614|PMID:31650533|PMID:31772028|PMID:33032373|PMID:33131162|PMID:33447612|PMID:33715250|PMID:34445527|PMID:9536098 9050522 Dnai1 dynein axonemal intermediate chain 1 gene DOID:9870 galactosemia ISO RGD:1346895 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9050556 Ethe1 ETHE1 persulfide dioxygenase gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1322274 D RGD:7240710 20180130 OMIM 9050556 Ethe1 ETHE1 persulfide dioxygenase gene DOID:0060640 ethylmalonic encephalopathy ISO RGD:1322274 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ethylmalonic encephalopathy PMID:14732903|PMID:16183799|PMID:16199547|PMID:16828325|PMID:16906473|PMID:17353187|PMID:17576681|PMID:17712735|PMID:18593870|PMID:19136963|PMID:19289697|PMID:20528888|PMID:21472225|PMID:25058219|PMID:25198162|PMID:25596185|PMID:25741868|PMID:26194623|PMID:27391121|PMID:2777167|PMID:27771676|PMID:27830356|PMID:28492532|PMID:28933811|PMID:29625556|PMID:30298498|PMID:30349987|PMID:30864297|PMID:31477743|PMID:32111695|PMID:32362910|PMID:32485156|PMID:32860008|PMID:32923369|PMID:9536098 9050556 Ethe1 ETHE1 persulfide dioxygenase gene DOID:5419 schizophrenia ISO RGD:1322274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9050556 Ethe1 ETHE1 persulfide dioxygenase gene DOID:630 genetic disease ISO RGD:1322274 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9050556 Ethe1 ETHE1 persulfide dioxygenase gene DOID:9006534 Nervous System Malformations ISO RGD:1322274 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28933811 9050567 Ccdc78 coiled-coil domain containing 78 gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1345830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 9050567 Ccdc78 coiled-coil domain containing 78 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1345830 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 9050567 Ccdc78 coiled-coil domain containing 78 gene DOID:0111224 centronuclear myopathy 4 ISO RGD:1345830 D RGD:7240710 20180130 OMIM 9050567 Ccdc78 coiled-coil domain containing 78 gene DOID:0111224 centronuclear myopathy 4 ISO RGD:1345830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 4 PMID:16199547|PMID:17576681|PMID:18414213|PMID:22818856|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28492532|PMID:9536098 9050567 Ccdc78 coiled-coil domain containing 78 gene DOID:1826 epilepsy ISO RGD:1345830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9050567 Ccdc78 coiled-coil domain containing 78 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1345830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9050567 Ccdc78 coiled-coil domain containing 78 gene DOID:422 congenital structural myopathy ISO RGD:1345830 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9050567 Ccdc78 coiled-coil domain containing 78 gene DOID:630 genetic disease ISO RGD:1345830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9050585 Kcng4 potassium voltage-gated channel modifier subfamily G member 4 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1318394 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 9050585 Kcng4 potassium voltage-gated channel modifier subfamily G member 4 gene DOID:630 genetic disease ISO RGD:1318394 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050595 Thoc1 THO complex 1 gene DOID:12849 autistic disorder ISO RGD:1318555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9050595 Thoc1 THO complex 1 gene DOID:630 genetic disease ISO RGD:1318555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050595 Thoc1 THO complex 1 gene DOID:9002299 Autosomal Dominant Nonsyndromic Deafness 86 ISO RGD:1318555 D RGD:7240710 20230505 OMIM 9050595 Thoc1 THO complex 1 gene DOID:9002299 Autosomal Dominant Nonsyndromic Deafness 86 ISO RGD:1318555 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 86 PMID:32776944 9050595 Thoc1 THO complex 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9050621 Tob2 transducer of ERBB2, 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1342508 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9050621 Tob2 transducer of ERBB2, 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:1342508 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 9050621 Tob2 transducer of ERBB2, 2 gene DOID:12306 vitiligo ISO RGD:1342508 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22561518 9050621 Tob2 transducer of ERBB2, 2 gene DOID:630 genetic disease ISO RGD:1342508 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050634 Taf15 TATA-box binding protein associated factor 15 gene DOID:3347 osteosarcoma ISO RGD:1320016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14767549 9050634 Taf15 TATA-box binding protein associated factor 15 gene DOID:3371 chondrosarcoma ISO RGD:1320016 D RGD:9068941 20200609 RGD extraskeletal myxoid chondrosarcomas (EMC) PMID:10602519|REF_RGD_ID:1599281 9050634 Taf15 TATA-box binding protein associated factor 15 gene DOID:4549 extraskeletal myxoid chondrosarcoma ISO RGD:1320016 D RGD:7240710 20180130 OMIM 9050634 Taf15 TATA-box binding protein associated factor 15 gene DOID:4549 extraskeletal myxoid chondrosarcoma ISO RGD:1320016 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: TAF15-related condition PMID:25741868 9050634 Taf15 TATA-box binding protein associated factor 15 gene DOID:630 genetic disease ISO RGD:1320016 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9050634 Taf15 TATA-box binding protein associated factor 15 gene DOID:9000217 Stomach Neoplasms ISO RGD:1320016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9050634 Taf15 TATA-box binding protein associated factor 15 gene DOID:9000918 Disease Progression ISO RGD:1320016 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9050663 Trmt13 tRNA methyltransferase 13 homolog gene DOID:630 genetic disease ISO RGD:1604003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050663 Trmt13 tRNA methyltransferase 13 homolog gene DOID:9269 maple syrup urine disease ISO RGD:1604003 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 9050685 Wdr37 WD repeat domain 37 gene DOID:0070338 cerebellar hypoplasia ISO RGD:1314666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318|PMID:31780822 9050685 Wdr37 WD repeat domain 37 gene DOID:0111675 neurooculocardiogenitourinary syndrome ISO RGD:1314666 D RGD:7240710 20200219 OMIM 9050685 Wdr37 WD repeat domain 37 gene DOID:0111675 neurooculocardiogenitourinary syndrome ISO RGD:1314666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurooculocardiogenitourinary syndrome PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318|PMID:31780822|PMID:34642815 9050685 Wdr37 WD repeat domain 37 gene DOID:1059 intellectual disability ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 9050685 Wdr37 WD repeat domain 37 gene DOID:10908 hydrocephalus ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 9050685 Wdr37 WD repeat domain 37 gene DOID:12270 coloboma ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coloboma PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 9050685 Wdr37 WD repeat domain 37 gene DOID:13938 amenorrhea ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9050685 Wdr37 WD repeat domain 37 gene DOID:1826 epilepsy ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 9050685 Wdr37 WD repeat domain 37 gene DOID:630 genetic disease ISO RGD:1314666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:31327508|PMID:31327510|PMID:31780822 9050685 Wdr37 WD repeat domain 37 gene DOID:9008086 Developmental Disabilities ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 9050685 Wdr37 WD repeat domain 37 gene DOID:9009131 Ventriculomegaly ISO RGD:1314666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventriculomegaly PMID:25741868|PMID:31327508|PMID:31327510|PMID:31474318 9050708 Usp50 ubiquitin specific peptidase 50 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1343119 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28492532 9050708 Usp50 ubiquitin specific peptidase 50 gene DOID:2717 Bloom syndrome ISO RGD:1343119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9050708 Usp50 ubiquitin specific peptidase 50 gene DOID:630 genetic disease ISO RGD:1343119 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050708 Usp50 ubiquitin specific peptidase 50 gene DOID:9256 colorectal cancer ISO RGD:1343119 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9050724 Mphosph6 M-phase phosphoprotein 6 gene DOID:630 genetic disease ISO RGD:1321401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050733 Phf19 PHD finger protein 19 gene DOID:630 genetic disease ISO RGD:1321268 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050766 Cdk5rap1 CDK5 regulatory subunit associated protein 1 gene DOID:630 genetic disease ISO RGD:1602114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050788 Nme4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1318408 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 9050788 Nme4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:1826 epilepsy ISO RGD:1318408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:24463883|PMID:25558065|PMID:28492532 9050788 Nme4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318408 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9050788 Nme4 NME/NM23 nucleoside diphosphate kinase 4 gene DOID:630 genetic disease ISO RGD:1318408 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050797 Morc4 MORC family CW-type zinc finger 4 gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1345473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 9050797 Morc4 MORC family CW-type zinc finger 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9050797 Morc4 MORC family CW-type zinc finger 4 gene DOID:12849 autistic disorder ISO RGD:1345473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9050797 Morc4 MORC family CW-type zinc finger 4 gene DOID:630 genetic disease ISO RGD:1345473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050797 Morc4 MORC family CW-type zinc finger 4 gene DOID:9003816 Macrocephaly ISO RGD:1345473 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:25741868 9050829 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:0110781 hereditary spastic paraplegia 30 ISO RGD:1348771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9050829 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:0111351 D-2-hydroxyglutaric aciduria 1 ISO RGD:1348771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895 9050829 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:0111704 chromosome 2q37 deletion syndrome ISO RGD:1348771 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 9050829 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:1059 intellectual disability ISO RGD:1348771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9050829 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:2661 myoepithelioma ISO RGD:1348771 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9050829 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:630 genetic disease ISO RGD:1348771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050829 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:9001550 Bethlem Myopathy 1 ISO RGD:1348771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 9050829 Lrrfip1 LRR binding FLII interacting protein 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348771 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9050885 Spice1 spindle and centriole associated protein 1 gene DOID:0070166 spermatogenic failure 20 ISO RGD:1606953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 20 PMID:25741868|PMID:28552195|PMID:29277146|PMID:29449551 9050885 Spice1 spindle and centriole associated protein 1 gene DOID:630 genetic disease ISO RGD:1606953 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9050909 Slc4a5 solute carrier family 4 member 5 gene DOID:0070254 congenital disorder of glycosylation type IIb ISO RGD:731047 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:24716661|PMID:25531304|PMID:26805780|PMID:27208207|PMID:27696117|PMID:28492532 9050909 Slc4a5 solute carrier family 4 member 5 gene DOID:543 dystonia ISO RGD:731047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dystonia PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9050909 Slc4a5 solute carrier family 4 member 5 gene DOID:630 genetic disease ISO RGD:731047 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050909 Slc4a5 solute carrier family 4 member 5 gene DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency ISO RGD:731047 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498 9050946 Esx1 ESX homeobox 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9050946 Esx1 ESX homeobox 1 gene DOID:12849 autistic disorder ISO RGD:1350335 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9050946 Esx1 ESX homeobox 1 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1350335 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:1720927|PMID:9633722|PMID:9634530 9050946 Esx1 ESX homeobox 1 gene DOID:630 genetic disease ISO RGD:1350335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050974 Pah phenylalanine hydroxylase gene DOID:0060041 autism spectrum disorder ISO RGD:735410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31209396 9050974 Pah phenylalanine hydroxylase gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:735410 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:14532329|PMID:25741868 9050974 Pah phenylalanine hydroxylase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:735410 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency PMID:10234516|PMID:10394930|PMID:10598814|PMID:10693064|PMID:10980574|PMID:11161839|PMID:11244681|PMID:11385716|PMID:11708866|PMID:12501224|PMID:12655553|PMID:14722928|PMID:15464430|PMID:16051511|PMID:16198137|PMID:16290003|PMID:17096675|PMID:17502162|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:21147011|PMID:21307867|PMID:21953985|PMID:22698810|PMID:22917871|PMID:23357515|PMID:23430918|PMID:23500595|PMID:23690520|PMID:23792259|PMID:23842451|PMID:23932990|PMID:23942198|PMID:24350308|PMID:24368688|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26503515|PMID:26542770|PMID:26600521|PMID:26666653|PMID:26982749|PMID:27121329|PMID:27243974|PMID:27469133|PMID:27578510|PMID:27620137|PMID:28492532|PMID:28982351|PMID:29288420|PMID:29499199|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30311390|PMID:30459323|PMID:30648773|PMID:31355225|PMID:31623983|PMID:32668217|PMID:32906206|PMID:33465300|PMID:33677757|PMID:33803550|PMID:35281663|PMID:7833954|PMID:7981714|PMID:8088845|PMID:8268925|PMID:8533759|PMID:8830172|PMID:8981952|PMID:9012412|PMID:9298832|PMID:9399896|PMID:9429153|PMID:9634518 9050974 Pah phenylalanine hydroxylase gene DOID:1059 intellectual disability ISO RGD:735410 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9050974 Pah phenylalanine hydroxylase gene DOID:630 genetic disease ISO RGD:735410 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10234516|PMID:10394930|PMID:10408782|PMID:10471838|PMID:10479481|PMID:10495930|PMID:10527663|PMID:10598814|PMID:10679941|PMID:10693064|PMID:10980574|PMID:11139255|PMID:11161839|PMID:11180595|PMID:11244681|PMID:11326337|PMID:11385716|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11914042|PMID:11999982|PMID:12173030|PMID:12409276|PMID:12501224|PMID:12640344|PMID:12644360|PMID:12655544|PMID:12655546|PMID:12655548|PMID:12655550|PMID:12655553|PMID:12655554|PMID:1301187|PMID:1301200|PMID:1301202|PMID:1312992|PMID:1349576|PMID:1355066|PMID:14568534|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15464430|PMID:15503242|PMID:15557004|PMID:15793771|PMID:1601425|PMID:1609797|PMID:16198137|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1671768|PMID:1671770|PMID:1672290|PMID:1672294|PMID:1679030|PMID:1682495|PMID:16879198|PMID:17096675|PMID:17502162|PMID:17576681|PMID:17630668|PMID:1769645|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18590700|PMID:18937047|PMID:18956252|PMID:18985011|PMID:19036622|PMID:19062537|PMID:19147918|PMID:19292873|PMID:19394257|PMID:1971144|PMID:1971147|PMID:1981599|PMID:19915519|PMID:1998345|PMID:2006152|PMID:20082265|PMID:2014036|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2044609|PMID:20457534|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21228398|PMID:21307867|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22112818|PMID:22330942|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22975760|PMID:2309142|PMID:2323773|PMID:23348723|PMID:23357515|PMID:23430547|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23716935|PMID:23764561|PMID:23792259|PMID:23932990|PMID:24033266|PMID:24048906|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24705691|PMID:24941924|PMID:25087612|PMID:25155776|PMID:25333069|PMID:25525159|PMID:25596310|PMID:2564729|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25894915|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26600521|PMID:26666653|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27243974|PMID:27264808|PMID:27469133|PMID:27620137|PMID:27682710|PMID:28174686|PMID:28492532|PMID:28676969|PMID:2884570|PMID:28851938|PMID:28982351|PMID:29025426|PMID:29288420|PMID:29317692|PMID:29473999|PMID:29499199|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:3008810|PMID:30311390|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30747360|PMID:30963030|PMID:31164572|PMID:31355225|PMID:31589614|PMID:31623983|PMID:31980526|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33177615|PMID:33234470|PMID:33375644|PMID:33465300|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34233069|PMID:34828281|PMID:35281663|PMID:3615198|PMID:36577126|PMID:7556322|PMID:7726156|PMID:7807961|PMID:7833927|PMID:7981714|PMID:8051931|PMID:8088845|PMID:8097262|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8320703|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8533759|PMID:8535445|PMID:8632937|PMID:8659548|PMID:8739972|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8889590|PMID:8981952|PMID:8990013|PMID:9012412|PMID:9101291|PMID:9298832|PMID:9359039|PMID:9399896|PMID:9429153|PMID:9450897|PMID:9521426|PMID:9536098|PMID:9634518|PMID:9781015|PMID:9843368|PMID:9860305 9050974 Pah phenylalanine hydroxylase gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:735410 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Haddad syndrome PMID:14532329 9050974 Pah phenylalanine hydroxylase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:735410 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:10234516|PMID:10394930|PMID:10598814|PMID:10693064|PMID:11385716|PMID:12655553|PMID:14722928|PMID:16198137|PMID:17096675|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:21147011|PMID:21307867|PMID:22698810|PMID:23357515|PMID:23500595|PMID:23792259|PMID:23932990|PMID:24350308|PMID:24368688|PMID:25087612|PMID:25333069|PMID:25741868|PMID:26467025|PMID:26542770|PMID:26600521|PMID:26666653|PMID:27121329|PMID:27243974|PMID:27620137|PMID:28492532|PMID:32906206|PMID:33803550|PMID:35281663|PMID:7981714|PMID:8268925|PMID:8533759|PMID:8830172|PMID:8981952|PMID:9012412|PMID:9298832|PMID:9399896|PMID:9429153|PMID:9634518 9050974 Pah phenylalanine hydroxylase gene DOID:9007139 Hyperphenylalaninemia, Non-Pku Mild ISO RGD:735410 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, NON-PKU MILD PMID:10234516|PMID:10527663|PMID:1301200|PMID:17924342|PMID:18590700|PMID:21871829|PMID:22526846|PMID:25741868|PMID:26322415|PMID:26542770|PMID:27469133|PMID:28492532|PMID:32668217|PMID:8364546|PMID:9450897|PMID:9634518 9050974 Pah phenylalanine hydroxylase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735410 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 9050974 Pah phenylalanine hydroxylase gene DOID:9008397 Maternal Phenylketonuria ISO RGD:735410 D RGD:9068941 20200609 RGD PMID:14654659|REF_RGD_ID:1601526 9050974 Pah phenylalanine hydroxylase gene DOID:9008864 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS ISO RGD:735410 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis PMID:10394930|PMID:11385716|PMID:11524738|PMID:11696894|PMID:12655546|PMID:12655553|PMID:16198137|PMID:16765994|PMID:17924342|PMID:17935162|PMID:18493213|PMID:1971144|PMID:2014036|PMID:21953985|PMID:22763404|PMID:22841515|PMID:23074961|PMID:23357515|PMID:23430918|PMID:23500595|PMID:24350308|PMID:24368688|PMID:2564729|PMID:25741868|PMID:26210745|PMID:26467025|PMID:26542770|PMID:28492532|PMID:29499199|PMID:30963030|PMID:31355225|PMID:8533759|PMID:9101291|PMID:9399896|PMID:9634518|PMID:9781015 9050974 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:7240710 20180130 OMIM 9050974 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11385716|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21953985|PMID:22106832|PMID:22112818|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25085675|PMID:25087612|PMID:25155776 9050974 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30648773|PMID:30667134|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32106880|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:33101986|PMID:33116287|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:34039861|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9860305|PMID:9949232|PMID:9950317 9050974 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:25155776|PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30648773|PMID:30667134|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:33101986|PMID:33116287|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:34039861|PMID:35690318|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9860305|PMID:9949232|PMID:9950317 9050974 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric | ClinVar Annotator: match by term: Phenylketonuria PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10767175|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11207989|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11360625|PMID:11385716|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14568534|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15110327|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:16091306|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21837404|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22106832|PMID:22112818|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23352163|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24304607|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517 9050974 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric | ClinVar Annotator: match by term: Phenylketonuria PMID:24667082|PMID:24705691|PMID:24765287|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:25640679|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29025426|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29684050|PMID:29731766|PMID:29749107|PMID:29892150|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30941500|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31164572|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33234470|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34039861|PMID:34233069|PMID:34653385|PMID:34828281|PMID:35079019|PMID:35176108|PMID:35193651|PMID:35281663|PMID:35339094|PMID:35405047|PMID:35690318|PMID:3615198|PMID:36537053|PMID:36577126|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7866411|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8518802|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9843368|PMID:9860305|PMID:9949232|PMID:9950317 9050974 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10767175|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11207989|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11360625|PMID:11385716|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14568534|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15110327|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:16091306|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:16770791|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17397052|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21837404|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22106832|PMID:22112818|PMID:2230084|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23352163|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24304607|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552 9050974 Pah phenylalanine hydroxylase gene DOID:9281 phenylketonuria ISO RGD:735410 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24767306|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25007885|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25333069|PMID:25449068|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:25640679|PMID:2564729|PMID:25725806|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26892377|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29025426|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29684050|PMID:29731766|PMID:29749107|PMID:29892150|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30199612|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30941500|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31164572|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33234470|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34039861|PMID:34233069|PMID:34653385|PMID:34828281|PMID:35079019|PMID:35176108|PMID:35193651|PMID:35281663|PMID:35339094|PMID:35405047|PMID:35690318|PMID:3615198|PMID:36537053|PMID:36577126|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7866411|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8518802|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9843368|PMID:9860305|PMID:9949232|PMID:9950317 9050992 Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1321512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 9050992 Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1321512 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 9050992 Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:14780 KBG syndrome ISO RGD:1321512 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31690835 9050992 Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:630 genetic disease ISO RGD:1321512 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9050992 Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1321512 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 9051021 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0050742 nicotine dependence ISO RGD:1347109 D RGD:9068941 20240118 RGD DNA:haplotype: :rs2282511(human) PMID:25273375|REF_RGD_ID:401959295 9051021 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0050742 nicotine dependence susceptibility ISO RGD:1347109 D RGD:9068941 20240125 RGD DNA:SNPs,haplotype:introns,intergenics:multiple PMID:17085484|REF_RGD_ID:401959319 9051021 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0111857 primary ciliary dyskinesia 45 ISO RGD:1347109 D RGD:7240710 20200318 OMIM 9051021 Ttc12 tetratricopeptide repeat domain 12 gene DOID:0111857 primary ciliary dyskinesia 45 ISO RGD:1347109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 PMID:1978331|PMID:25741868 9051021 Ttc12 tetratricopeptide repeat domain 12 gene DOID:1059 intellectual disability ISO RGD:1347109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9051021 Ttc12 tetratricopeptide repeat domain 12 gene DOID:630 genetic disease ISO RGD:1347109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051021 Ttc12 tetratricopeptide repeat domain 12 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1347109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9051021 Ttc12 tetratricopeptide repeat domain 12 gene DOID:9974 drug dependence ISO RGD:1347109 D RGD:9068941 20240125 RGD associated with alcohol dependence;DNA:haplotype:exon: PMID:18828801|REF_RGD_ID:401959320 9051021 Ttc12 tetratricopeptide repeat domain 12 gene DOID:9976 heroin dependence susceptibility ISO RGD:1347109 D RGD:9068941 20240118 RGD DNA:SNP:5'UTR,intron:rs7130431(human) PMID:23303482|REF_RGD_ID:401959304 9051062 Adsl adenylosuccinate lyase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316916 D RGD:7240710 20180130 OMIM 9051062 Adsl adenylosuccinate lyase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1316916 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:10090474|PMID:10888601|PMID:10958654|PMID:12016589|PMID:12070256|PMID:12368987|PMID:12833398|PMID:1302001|PMID:1405483|PMID:15571235|PMID:15571240|PMID:16199547|PMID:16403972|PMID:16839792|PMID:17188615|PMID:17576681|PMID:18524658|PMID:18830228|PMID:19405474|PMID:20049533|PMID:20127976|PMID:20175147|PMID:20177786|PMID:20884265|PMID:20933180|PMID:21210713|PMID:22180458|PMID:22812634|PMID:23055421|PMID:23504561|PMID:23714113|PMID:23937257|PMID:24033266|PMID:24781210|PMID:25112391|PMID:25326635|PMID:25741868|PMID:25910213|PMID:26467025|PMID:27504266|PMID:28487569|PMID:28492532|PMID:28559277|PMID:29302074|PMID:29314763|PMID:29655203|PMID:30185235|PMID:30609409|PMID:31164858|PMID:31440721|PMID:31467849|PMID:31623504|PMID:3234432|PMID:32681428|PMID:33648541|PMID:6150139|PMID:7334371|PMID:8598641|PMID:9165520|PMID:9197470|PMID:9266401|PMID:9536098|PMID:9545543 9051062 Adsl adenylosuccinate lyase gene DOID:0060041 autism spectrum disorder ISO RGD:1316916 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9051062 Adsl adenylosuccinate lyase gene DOID:10283 prostate cancer severity ISO RGD:1316916 D RGD:9068941 20200609 RGD protein:increased activity:tumor (human) PMID:3690833|REF_RGD_ID:1598760 9051062 Adsl adenylosuccinate lyase gene DOID:1059 intellectual disability ISO RGD:1316916 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9051062 Adsl adenylosuccinate lyase gene DOID:12849 autistic disorder ISO RGD:1316916 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15471876 9051062 Adsl adenylosuccinate lyase gene DOID:1612 breast cancer ISO RGD:1307617 D RGD:9068941 20200609 RGD protein:increased activity:tumor (rat) PMID:2937404|REF_RGD_ID:1598766 9051062 Adsl adenylosuccinate lyase gene DOID:1612 breast cancer severity ISO RGD:1316916 D RGD:9068941 20200609 RGD protein:increased activity:tumor (human) PMID:3690833|REF_RGD_ID:1598760 9051062 Adsl adenylosuccinate lyase gene DOID:630 genetic disease ISO RGD:1316916 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10090474|PMID:10888601|PMID:10958654|PMID:12016589|PMID:12833398|PMID:16839792|PMID:17188615|PMID:18524658|PMID:20127976|PMID:20175147|PMID:20933180|PMID:22180458|PMID:23504561|PMID:23714113|PMID:23937257|PMID:24033266|PMID:24781210|PMID:25112391|PMID:25741868|PMID:25910213|PMID:26467025|PMID:27504266|PMID:28487569|PMID:28492532|PMID:28559277|PMID:29655203|PMID:30185235|PMID:30609409|PMID:31164858|PMID:31467849|PMID:33648541|PMID:7334371|PMID:9266401 9051062 Adsl adenylosuccinate lyase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1307617 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:2937404|REF_RGD_ID:1598766 9051062 Adsl adenylosuccinate lyase gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1316916 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:10090474|PMID:10888601|PMID:10958654|PMID:17188615|PMID:18524658|PMID:20127976|PMID:22180458|PMID:25741868|PMID:28492532|PMID:31467849|PMID:31623504|PMID:33648541 9051062 Adsl adenylosuccinate lyase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307617 D RGD:9068941 20200609 RGD protein:increased activity:heart (rat) PMID:3360219|REF_RGD_ID:1598762 9051097 Gnpat glyceronephosphate O-acyltransferase gene DOID:0070269 congenital disorder of glycosylation type IIq ISO RGD:733936 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIq PMID:24784932|PMID:28492532|PMID:32293671 9051097 Gnpat glyceronephosphate O-acyltransferase gene DOID:0110852 rhizomelic chondrodysplasia punctata type 2 ISO RGD:733936 D RGD:7240710 20180130 OMIM 9051097 Gnpat glyceronephosphate O-acyltransferase gene DOID:0110852 rhizomelic chondrodysplasia punctata type 2 ISO RGD:733936 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: GNPAT-related condition | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2 PMID:10972423|PMID:11152660|PMID:11237722|PMID:1152660|PMID:1405476|PMID:21990100|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34229749|PMID:7530787|PMID:9536089|PMID:9843043 9051097 Gnpat glyceronephosphate O-acyltransferase gene DOID:10283 prostate cancer ISO RGD:733936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9051097 Gnpat glyceronephosphate O-acyltransferase gene DOID:150 disease of mental health ISO RGD:733937 D RGD:9068941 20220825 MouseDO 9051097 Gnpat glyceronephosphate O-acyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:733936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9051097 Gnpat glyceronephosphate O-acyltransferase gene DOID:2580 rhizomelic chondrodysplasia punctata ISO RGD:733936 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:11237722|PMID:25741868|PMID:28492532|PMID:9536089 9051097 Gnpat glyceronephosphate O-acyltransferase gene DOID:630 genetic disease ISO RGD:733936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9051097 Gnpat glyceronephosphate O-acyltransferase gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:733936 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 9051097 Gnpat glyceronephosphate O-acyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:733936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9051121 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9051121 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1348501 D RGD:7240710 20180130 OMIM 9051121 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0060800 syndromic X-linked intellectual disability 5 ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pettigrew syndrome PMID:10398241|PMID:12599187|PMID:17186471|PMID:17617514|PMID:18414213|PMID:18428203|PMID:2018058|PMID:23756445|PMID:25741868|PMID:33847015|PMID:5054319 9051121 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1348501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 9051121 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:12849 autistic disorder ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9051121 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:13636 Fanconi anemia ISO RGD:1348501 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 9051121 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:630 genetic disease ISO RGD:1348501 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9051121 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348501 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9051121 Ap1s2 adaptor related protein complex 1 subunit sigma 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348501 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9051145 Cdc27 cell division cycle 27 gene DOID:10485 esophageal atresia ISO RGD:1312639 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal atresia 9051145 Cdc27 cell division cycle 27 gene DOID:684 hepatocellular carcinoma ISO RGD:1312639 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma 9051145 Cdc27 cell division cycle 27 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312639 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9051145 Cdc27 cell division cycle 27 gene DOID:9007098 Pulmonary Atresia ISO RGD:1312639 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pulmonary artery atresia 9051193 Muc16 mucin 16, cell surface associated gene DOID:10140 dry eye syndrome ISO RGD:1346263 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:22089171|REF_RGD_ID:7349375 9051193 Muc16 mucin 16, cell surface associated gene DOID:1227 neutropenia ISO RGD:1346263 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 9051193 Muc16 mucin 16, cell surface associated gene DOID:12849 autistic disorder ISO RGD:1346263 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9051193 Muc16 mucin 16, cell surface associated gene DOID:12894 Sjogren's syndrome ISO RGD:1346263 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:conjunctival epithelial cell, tear PMID:19122828|REF_RGD_ID:7364772 9051193 Muc16 mucin 16, cell surface associated gene DOID:1793 pancreatic cancer ISO RGD:1346263 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19377061|REF_RGD_ID:2325129 9051193 Muc16 mucin 16, cell surface associated gene DOID:2394 ovarian cancer treatment ISO RGD:1346263 D RGD:9068941 20200609 RGD PMID:18641636|REF_RGD_ID:7364774 9051193 Muc16 mucin 16, cell surface associated gene DOID:4001 ovarian carcinoma ISO RGD:1308422 D RGD:9068941 20200609 RGD PMID:20356397|REF_RGD_ID:2325203 9051193 Muc16 mucin 16, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:1346263 D RGD:9068941 20200609 RGD associated with Opisthorchiasis;protein:increased expression:serum PMID:1653472|REF_RGD_ID:2325142 9051193 Muc16 mucin 16, cell surface associated gene DOID:576 proteinuria ISO RGD:1346263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12169874 9051193 Muc16 mucin 16, cell surface associated gene DOID:9000011 Gallbladder Neoplasms ISO RGD:1346263 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17542293|REF_RGD_ID:2325132 9051193 Muc16 mucin 16, cell surface associated gene DOID:9002762 Ovarian Neoplasms ISO RGD:1346263 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11706781 9051193 Muc16 mucin 16, cell surface associated gene DOID:9002936 Bile Duct Neoplasms ISO RGD:1346263 D RGD:9068941 20200609 RGD protein:increased expression:serum,bile PMID:1657243|REF_RGD_ID:2325134 9051193 Muc16 mucin 16, cell surface associated gene DOID:9005172 Lung Neoplasms ISO RGD:1346263 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29552305 9051193 Muc16 mucin 16, cell surface associated gene DOID:9368 keratoconjunctivitis ISO RGD:1346263 D RGD:9068941 20200609 RGD mRNA:increased expression:conjunctival epithelial cell PMID:18782111|REF_RGD_ID:7364735 9051283 Dnah10 dynein axonemal heavy chain 10 gene DOID:0060224 atrial fibrillation ISO RGD:733008 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 9051283 Dnah10 dynein axonemal heavy chain 10 gene DOID:0111910 spermatogenic failure ISO RGD:733009 D RGD:9068941 20220825 MouseDO 9051283 Dnah10 dynein axonemal heavy chain 10 gene DOID:0112336 spermatogenic failure 56 ISO RGD:733008 D RGD:7240710 20210908 OMIM 9051283 Dnah10 dynein axonemal heavy chain 10 gene DOID:0112336 spermatogenic failure 56 ISO RGD:733008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 56 PMID:25741868|PMID:34237282 9051283 Dnah10 dynein axonemal heavy chain 10 gene DOID:12336 male infertility ISO RGD:733008 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility 9051283 Dnah10 dynein axonemal heavy chain 10 gene DOID:630 genetic disease ISO RGD:733008 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051365 Rftn2 raftlin family member 2 gene DOID:630 genetic disease ISO RGD:1316421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051365 Rftn2 raftlin family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1316421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9051385 Ypel2 yippee like 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1604154 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9051385 Ypel2 yippee like 2 gene DOID:630 genetic disease ISO RGD:1604154 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051417 Gadd45b growth arrest and DNA damage inducible beta gene DOID:0080600 COVID-19 ISO RGD:1319220 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9051417 Gadd45b growth arrest and DNA damage inducible beta gene DOID:0080600 COVID-19 ISO RGD:1319220 D RGD:9068941 20200709 RGD mRNA:increased expression:CD14++ monocytes (human) PMID:32377375|REF_RGD_ID:32716422 9051417 Gadd45b growth arrest and DNA damage inducible beta gene DOID:37 skin disease ISO RGD:1319220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9051417 Gadd45b growth arrest and DNA damage inducible beta gene DOID:630 genetic disease ISO RGD:1319220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051417 Gadd45b growth arrest and DNA damage inducible beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319220 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9051417 Gadd45b growth arrest and DNA damage inducible beta gene DOID:9007964 Arsenic Poisoning ISO RGD:1319220 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9051425 Espl1 extra spindle pole bodies like 1, separase gene DOID:0080202 adenoid cystic carcinoma ISO RGD:1314788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9051425 Espl1 extra spindle pole bodies like 1, separase gene DOID:0080600 COVID-19 ISO RGD:1314788 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9051425 Espl1 extra spindle pole bodies like 1, separase gene DOID:11054 urinary bladder cancer ISO RGD:1314788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 9051425 Espl1 extra spindle pole bodies like 1, separase gene DOID:2671 transitional cell carcinoma ISO RGD:1314788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24121792 9051425 Espl1 extra spindle pole bodies like 1, separase gene DOID:630 genetic disease ISO RGD:1314788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051425 Espl1 extra spindle pole bodies like 1, separase gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:1314788 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16762588 9051468 Tmem273 transmembrane protein 273 gene DOID:11372 megacolon ISO RGD:1344407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9051468 Tmem273 transmembrane protein 273 gene DOID:5419 schizophrenia ISO RGD:1344407 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9051476 Tcim transcriptional and immune response regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1346279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9051501 Ca10 carbonic anhydrase 10 gene DOID:630 genetic disease ISO RGD:1352724 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051520 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:0080456 developmental and epileptic encephalopathy 46 ISO RGD:732718 D RGD:7240710 20190315 OMIM 9051520 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:0080456 developmental and epileptic encephalopathy 46 ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 46 | ClinVar Annotator: match by term: GRIN2D-related condition PMID:15970596|PMID:25741868|PMID:27616483|PMID:28492532|PMID:30280376|PMID:31504254|PMID:32860008|PMID:33057194 9051520 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:1059 intellectual disability ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9051520 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:1826 epilepsy ISO RGD:732718 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9051520 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:5419 schizophrenia ISO RGD:732718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19856012 9051520 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:5419 schizophrenia ISO RGD:732718 D RGD:9068941 20200609 RGD mRNA:increased expression:right hemisphere of cerebellum (human) PMID:19856012|REF_RGD_ID:2325945 9051520 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:630 genetic disease ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11854433|PMID:15970596|PMID:17504910|PMID:18272676|PMID:25741868|PMID:28492532|PMID:30280376|PMID:31504254|PMID:9285588 9051520 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:9002955 Nerve Degeneration ISO RGD:732718 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19911010 9051520 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:9008582 Developmental Disease ISO RGD:732718 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9051520 Grin2d glutamate ionotropic receptor NMDA type subunit 2D gene DOID:936 brain disease ISO RGD:732718 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:28492532 9051537 Igfbp4 insulin like growth factor binding protein 4 gene DOID:630 genetic disease ISO RGD:69043 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051546 Dock5 dedicator of cytokinesis 5 gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1315737 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:28492532 9051546 Dock5 dedicator of cytokinesis 5 gene DOID:10283 prostate cancer ISO RGD:1315737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 9051546 Dock5 dedicator of cytokinesis 5 gene DOID:630 genetic disease ISO RGD:1315737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051610 Pcbp4 poly(rC) binding protein 4 gene DOID:630 genetic disease ISO RGD:1317376 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051638 Ptprh protein tyrosine phosphatase receptor type H gene DOID:0110936 nemaline myopathy 5A ISO RGD:1345629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type PMID:28492532 9051638 Ptprh protein tyrosine phosphatase receptor type H gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1345629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 9051638 Ptprh protein tyrosine phosphatase receptor type H gene DOID:630 genetic disease ISO RGD:1345629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051664 Gpx2 glutathione peroxidase 2 gene DOID:0050860 colorectal adenoma ISO RGD:1345750 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 9051664 Gpx2 glutathione peroxidase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1345750 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9051664 Gpx2 glutathione peroxidase 2 gene DOID:0080199 colorectal carcinoma ISO RGD:1345750 D RGD:9068941 20220407 RGD mRNA:increased expression:colorectum (human) PMID:30469315|REF_RGD_ID:151665806 9051664 Gpx2 glutathione peroxidase 2 gene DOID:219 colon cancer treatment ISO RGD:735351 D RGD:9068941 20220624 RGD associated with Inflammation PMID:28045589|REF_RGD_ID:152995480 9051664 Gpx2 glutathione peroxidase 2 gene DOID:630 genetic disease ISO RGD:1345750 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051664 Gpx2 glutathione peroxidase 2 gene DOID:8577 ulcerative colitis disease_progression ISO RGD:1345750 D RGD:9068941 20220630 RGD protein:increased expression:large intestine (human) PMID:18479189|REF_RGD_ID:152998902 9051664 Gpx2 glutathione peroxidase 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1345750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23867582 9051664 Gpx2 glutathione peroxidase 2 gene DOID:9004786 Carbon Tetrachloride Poisoning treatment ISO RGD:727780 D RGD:9068941 20231005 RGD PMID:31018559|REF_RGD_ID:401827907 9051664 Gpx2 glutathione peroxidase 2 gene DOID:9007188 Liver Neoplasms ISO RGD:1345750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 9051664 Gpx2 glutathione peroxidase 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1345750 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18056462 9051664 Gpx2 glutathione peroxidase 2 gene DOID:9256 colorectal cancer disease_progression ISO RGD:1345750 D RGD:9068941 20220630 RGD protein:increased expression:large intestine (human) PMID:18479189|REF_RGD_ID:152998902 9051670 Lypd6 LY6/PLAUR domain containing 6 gene DOID:630 genetic disease ISO RGD:1605579 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051685 Ferd3l Fer3 like bHLH transcription factor gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323462 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9051685 Ferd3l Fer3 like bHLH transcription factor gene DOID:630 genetic disease ISO RGD:1323462 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051705 Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:0050989 episodic ataxia type 1 ISO RGD:1351667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:28492532 9051705 Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1351667 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9051705 Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:630 genetic disease ISO RGD:1351667 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051705 Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1351667 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9051726 Pcnx3 pecanex 3 gene DOID:1059 intellectual disability ISO RGD:1602160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9051726 Pcnx3 pecanex 3 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9051726 Pcnx3 pecanex 3 gene DOID:2746 glycogen storage disease V ISO RGD:1602160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9051726 Pcnx3 pecanex 3 gene DOID:3070 high grade glioma ISO RGD:1602160 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9051726 Pcnx3 pecanex 3 gene DOID:630 genetic disease ISO RGD:1602160 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051726 Pcnx3 pecanex 3 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1602160 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9051726 Pcnx3 pecanex 3 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1602160 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532|PMID:28600438 9051726 Pcnx3 pecanex 3 gene DOID:9074 systemic lupus erythematosus ISO RGD:1602160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26808113 9051765 Vwa7 von Willebrand factor A domain containing 7 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1342662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9051765 Vwa7 von Willebrand factor A domain containing 7 gene DOID:630 genetic disease ISO RGD:1342662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051785 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:0060731 congenital central hypoventilation syndrome ISO RGD:736393 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:14532329|PMID:25741868 9051785 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:1059 intellectual disability ISO RGD:736393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21937992 9051785 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:1824 status epilepticus ISO RGD:71010 D RGD:9068941 20200609 RGD PMID:11564418|REF_RGD_ID:2314147 9051785 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:5409 lung small cell carcinoma ISO RGD:736393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26253517 9051785 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:736393 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051785 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:863 nervous system disease ISO RGD:736393 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 9051785 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:9000270 Congenital Central Hypoventilation Syndrome 1 ISO RGD:736393 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Haddad syndrome PMID:14532329 9051785 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:9002221 Hyperplasia ISO RGD:71010 D RGD:9068941 20200609 RGD PMID:12555267|REF_RGD_ID:704377 9051785 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:9004610 Acute Lung Injury ISO RGD:736393 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20554700 9051785 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:9007096 Stroke ISO RGD:71010 D RGD:9068941 20200609 RGD PMID:16730914|REF_RGD_ID:2314146 9051785 Ascl1 achaete-scute family bHLH transcription factor 1 gene DOID:9281 phenylketonuria ISO RGD:736393 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:28492532 9051794 Phf13 PHD finger protein 13 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1317748 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9051794 Phf13 PHD finger protein 13 gene DOID:630 genetic disease ISO RGD:1317748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051794 Phf13 PHD finger protein 13 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1317748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9051801 Hal histidine ammonia-lyase gene DOID:0060168 histidinemia ISO RGD:68517 D RGD:7240710 20180130 OMIM 9051801 Hal histidine ammonia-lyase gene DOID:0060168 histidinemia ISO RGD:68517 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Histidinemia | ClinVar Annotator: match by term: Increased histidine PMID:15173056|PMID:15806399|PMID:23361591|PMID:23806086|PMID:24088041|PMID:24725463|PMID:25575548|PMID:25741868|PMID:27453504|PMID:28492532 9051801 Hal histidine ammonia-lyase gene DOID:630 genetic disease ISO RGD:68517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051801 Hal histidine ammonia-lyase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:68517 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9051825 Prnp prion protein (Kanno blood group) gene DOID:0050433 fatal familial insomnia ISO RGD:737306 D RGD:7240710 20231227 OMIM 9051825 Prnp prion protein (Kanno blood group) gene DOID:0050433 fatal familial insomnia ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fatal familial insomnia PMID:10079068|PMID:10090891|PMID:10360778|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10588836|PMID:10665501|PMID:10889050|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11839833|PMID:11840201|PMID:12451207|PMID:12590162|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1351274|PMID:1353341|PMID:1404799|PMID:1439789|PMID:14520676|PMID:14562104|PMID:1469441|PMID:14761942|PMID:14872044|PMID:14967768|PMID:14970845|PMID:15277640|PMID:15366237|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16227536|PMID:16313190|PMID:16315279|PMID:16369046|PMID:16391566|PMID:16565881|PMID:1671440|PMID:1677164|PMID:1682813|PMID:1684089|PMID:1684755|PMID:1684758|PMID:16969862|PMID:17013786|PMID:17029785|PMID:17494694|PMID:1798423|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19543376|PMID:19680558|PMID:19703264|PMID:1971924|PMID:1975028|PMID:19923577|PMID:20038778|PMID:20139714|PMID:20301407|PMID:20514992|PMID:20583301|PMID:20592908|PMID:20593190|PMID:21269331|PMID:21298055|PMID:21616973|PMID:21839748|PMID:21909425|PMID:21983261|PMID:22072968|PMID:22108575|PMID:22318125|PMID:2253724|PMID:22561193|PMID:22584955|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23296137|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23723004|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25064618|PMID:25279981|PMID:25482600|PMID:25522698|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26000326|PMID:26268049|PMID:26488179|PMID:26578040|PMID:26791950|PMID:27341347|PMID:27350609|PMID:27803826|PMID:2783132|PMID:28492532|PMID:29092967|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7908444|PMID:7916462|PMID:7936296|PMID:7999318|PMID:8105682|PMID:8137139|PMID:8461023|PMID:8618678|PMID:9270595|PMID:9279329|PMID:9531435|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9786248|PMID:9789072|PMID:9813003 9051825 Prnp prion protein (Kanno blood group) gene DOID:0060041 autism spectrum disorder ISO RGD:737306 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:10437852|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11840201|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:18955686|PMID:1971924|PMID:19923577|PMID:2378641|PMID:25741868|PMID:2783132|PMID:28492532|PMID:7908444|PMID:8137139|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 9051825 Prnp prion protein (Kanno blood group) gene DOID:0081388 primary progressive aphasia ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to PMID:10437852|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11840201|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:18955686|PMID:1971924|PMID:19923577|PMID:2378641|PMID:25741868|PMID:2783132|PMID:28492532|PMID:7908444|PMID:8137139|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 9051825 Prnp prion protein (Kanno blood group) gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737306 D RGD:7240710 20231227 OMIM 9051825 Prnp prion protein (Kanno blood group) gene DOID:0090103 Huntington's disease-like 1 ISO RGD:737306 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES PMID:10079068|PMID:10090891|PMID:10360778|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10588836|PMID:10612329|PMID:10631141|PMID:10665501|PMID:10790216|PMID:10889050|PMID:10953203|PMID:10970892|PMID:10987652|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11568919|PMID:11709001|PMID:11749972|PMID:11756421|PMID:11756597|PMID:11839833|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12372829|PMID:12420099|PMID:12451207|PMID:12590162|PMID:12601712|PMID:12690204|PMID:12813570|PMID:12815603|PMID:12867116|PMID:12891686|PMID:1351274|PMID:1353341|PMID:1357663|PMID:1363809|PMID:1363810|PMID:1404799|PMID:1439789|PMID:14520676|PMID:14562104|PMID:14610121|PMID:1469441|PMID:14761942|PMID:14872044|PMID:14967768|PMID:14970845|PMID:15277640|PMID:15366237|PMID:15539564|PMID:15557533|PMID:15739100|PMID:15753435|PMID:15776279|PMID:15967879|PMID:15987701|PMID:16025285|PMID:16187142|PMID:16217673|PMID:16227536|PMID:16313190|PMID:16314483|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16533975|PMID:16565881|PMID:1671440|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:1684755|PMID:1684758|PMID:16914329|PMID:16939293|PMID:16969862|PMID:17013786|PMID:17029785|PMID:17494694|PMID:17666888|PMID:17851697|PMID:1798423|PMID:18425766|PMID:18455951|PMID:18478114|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19543376|PMID:19680558|PMID:19696976|PMID:19703264|PMID:1971924|PMID:1975028|PMID:19923577|PMID:20038778|PMID:20139714|PMID:20301407|PMID:20514992|PMID:20541558|PMID:20583301|PMID:20592908|PMID:20593190|PMID:20697057|PMID:21107135|PMID:21269331|PMID:21298055|PMID:21416485|PMID:21552571|PMID:21616973|PMID:21791975|PMID:2180366|PMID:21839748|PMID:21904617|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22072968|PMID:22097954|PMID:22108575|PMID:22318125|PMID:22488860|PMID:2253724|PMID:22561193|PMID:22584955|PMID:22717776|PMID:22947063|PMID:22965875|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23261545|PMID:23296137|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:23723004|PMID:2378641|PMID:23871665|PMID:2458274|PMID:24583440|PMID:24838726|PMID:24958194|PMID:25022973|PMID:25064618|PMID:25279981|PMID:25450391|PMID:25482600|PMID:25522698|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:25959220|PMID:26000326|PMID:26268049|PMID:26323476|PMID:26488179|PMID:26578040|PMID:26757195|PMID:26791950|PMID:27341347|PMID:27350609|PMID:27716661|PMID:27803826|PMID:2783132|PMID:2812321|PMID:28314738|PMID:28492532|PMID:29092967|PMID:29382530|PMID:29458424|PMID:29887139|PMID:31447551|PMID:32317127|PMID:32986314|PMID:34663460|PMID:35812092|PMID:7902693|PMID:7902971|PMID:7908444|PMID:7916462|PMID:7936296|PMID:7954833|PMID:7999318|PMID:8105682|PMID:8137139|PMID:8461023|PMID:8618678|PMID:8698234|PMID:8909447|PMID:8939199|PMID:9270595|PMID:9279329|PMID:9482303|PMID:9531435|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9786248|PMID:9789072|PMID:9813003 9051825 Prnp prion protein (Kanno blood group) gene DOID:10652 Alzheimer's disease ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease, early-onset, susceptibility to PMID:10437852|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11840201|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:18955686|PMID:1971924|PMID:19923577|PMID:2378641|PMID:25741868|PMID:2783132|PMID:28492532|PMID:7908444|PMID:8137139|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 9051825 Prnp prion protein (Kanno blood group) gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737306 D RGD:7240710 20231227 OMIM 9051825 Prnp prion protein (Kanno blood group) gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:737306 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Creutzfeldt-Jakob Disease, Familial | ClinVar Annotator: match by term: Protection against Creutzfeldt-Jakob disease PMID:10079068|PMID:10090891|PMID:10360778|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10665501|PMID:10889050|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11839833|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12815603|PMID:12867116|PMID:12891686|PMID:1351274|PMID:1353341|PMID:1404799|PMID:14520676|PMID:14562104|PMID:1469441|PMID:14761942|PMID:14872044|PMID:14967768|PMID:14970845|PMID:15277640|PMID:15366237|PMID:15539564|PMID:15557533|PMID:15739100|PMID:15753435|PMID:15776279|PMID:15967879|PMID:15987701|PMID:16187142|PMID:16217673|PMID:16314483|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16533975|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:1684755|PMID:1684758|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:1798423|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:1975028|PMID:19923577|PMID:20139714|PMID:20301407|PMID:20514992|PMID:20541558|PMID:20583301|PMID:20592908|PMID:20593190|PMID:20697057|PMID:21269331|PMID:21298055|PMID:21552571|PMID:21791975|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22072968|PMID:22097954|PMID:22108575|PMID:22318125|PMID:22488860|PMID:2253724|PMID:22561193|PMID:22584955|PMID:22947063|PMID:22965875|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23296137|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:23723004|PMID:2378641|PMID:2458274|PMID:24583440|PMID:24838726|PMID:25064618|PMID:25279981|PMID:25450391|PMID:25482600|PMID:25522698|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:25959220|PMID:26268049|PMID:26488179|PMID:26578040|PMID:26791950|PMID:27341347|PMID:27803826|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:7916462|PMID:7936296|PMID:7999318|PMID:8105682|PMID:8137139|PMID:8461023|PMID:8618678|PMID:8698234|PMID:8909447|PMID:9279329|PMID:9482303|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072|PMID:9813003 9051825 Prnp prion protein (Kanno blood group) gene DOID:2377 multiple sclerosis ISO RGD:737306 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 9051825 Prnp prion protein (Kanno blood group) gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:737306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 9051825 Prnp prion protein (Kanno blood group) gene DOID:4195 hyperglycemia ISO RGD:3410 D RGD:9068941 20200609 RGD PMID:17146448|REF_RGD_ID:1599950 9051825 Prnp prion protein (Kanno blood group) gene DOID:4249 Gerstmann-Straussler-Scheinker syndrome ISO RGD:737306 D RGD:7240710 20231227 OMIM 9051825 Prnp prion protein (Kanno blood group) gene DOID:4249 Gerstmann-Straussler-Scheinker syndrome ISO RGD:737306 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | ClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler type | ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndrome PMID:10079068|PMID:10437852|PMID:10506086|PMID:10526198|PMID:10581230|PMID:10581485|PMID:10631141|PMID:10698707|PMID:10790216|PMID:10953183|PMID:10953203|PMID:10970892|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11568919|PMID:11704923|PMID:11709001|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12372829|PMID:12451207|PMID:12590162|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:1357663|PMID:1363809|PMID:1363810|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15824374|PMID:15967879|PMID:15987701|PMID:16025285|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16939293|PMID:16969862|PMID:17029785|PMID:17353478|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19225789|PMID:19422533|PMID:19422537|PMID:19675240|PMID:19680558|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19911184|PMID:19923577|PMID:20301407|PMID:20541558|PMID:20583301|PMID:20592908|PMID:21269331|PMID:21416485|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22965875|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:24958194|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:25959220|PMID:26268049|PMID:26323476|PMID:26578040|PMID:26791950|PMID:27341347|PMID:27716661|PMID:2783132|PMID:2812321|PMID:28492532|PMID:29382530|PMID:29458424|PMID:29887139|PMID:32986314|PMID:7501157|PMID:7902693|PMID:7902971|PMID:7902972|PMID:7908444|PMID:7954833|PMID:8137139|PMID:8461023|PMID:8570627|PMID:8698234|PMID:8939199|PMID:9452375|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 9051825 Prnp prion protein (Kanno blood group) gene DOID:5434 scrapie ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11701772|PMID:18717736|PMID:19486493|PMID:21533749 9051825 Prnp prion protein (Kanno blood group) gene DOID:5434 scrapie onset ISO RGD:3410 D RGD:9068941 20200609 RGD PMID:29157304|REF_RGD_ID:15045596 9051825 Prnp prion protein (Kanno blood group) gene DOID:630 genetic disease ISO RGD:737306 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10506086|PMID:10698707|PMID:19675240|PMID:2783132|PMID:28492532|PMID:7501157|PMID:7902972|PMID:9452375 9051825 Prnp prion protein (Kanno blood group) gene DOID:648 kuru ISO RGD:737306 D RGD:7240710 20231227 OMIM 9051825 Prnp prion protein (Kanno blood group) gene DOID:648 kuru ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kuru, protection against | ClinVar Annotator: match by term: Kuru, susceptibility to PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:12451207|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16391566|PMID:16565881|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:21839748|PMID:21909425|PMID:21983261|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:25741868|PMID:25818675|PMID:26061765|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7908444|PMID:8137139|PMID:8461023|PMID:9643750|PMID:9748018|PMID:9751723|PMID:9789072 9051825 Prnp prion protein (Kanno blood group) gene DOID:649 prion disease ISO RGD:737306 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inherited prion disease | ClinVar Annotator: match by term: Prion disease, susceptibility to | ClinVar Annotator: match by term: Spongiform encephalopathy PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10612329|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12420099|PMID:12451207|PMID:12601712|PMID:12690204|PMID:12813570|PMID:12815603|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14610121|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15557533|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19812771|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:20697057|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25022973|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26757195|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:30606247|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9482303|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 9051825 Prnp prion protein (Kanno blood group) gene DOID:8725 vascular dementia ISO RGD:737306 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vascular dementia PMID:35307828 9051825 Prnp prion protein (Kanno blood group) gene DOID:891 progressive myoclonus epilepsy ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 9051825 Prnp prion protein (Kanno blood group) gene DOID:893 Wilson disease ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831968 9051825 Prnp prion protein (Kanno blood group) gene DOID:9000217 Stomach Neoplasms ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17387271 9051825 Prnp prion protein (Kanno blood group) gene DOID:9000965 Neoplasm Metastasis ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17387271 9051825 Prnp prion protein (Kanno blood group) gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9051825 Prnp prion protein (Kanno blood group) gene DOID:9002170 Experimental Neoplasms ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21265952 9051825 Prnp prion protein (Kanno blood group) gene DOID:9002304 Prostatic Neoplasms ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17199135 9051825 Prnp prion protein (Kanno blood group) gene DOID:9005749 Necrosis ISO RGD:737306 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18547651 9051825 Prnp prion protein (Kanno blood group) gene DOID:9005780 Spongiform Encephalopathy with Neuropsychiatric Features ISO RGD:737306 D RGD:7240710 20231227 OMIM 9051825 Prnp prion protein (Kanno blood group) gene DOID:9005780 Spongiform Encephalopathy with Neuropsychiatric Features ISO RGD:737306 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Spongiform encephalopathy with neuropsychiatric features PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10581485|PMID:10612329|PMID:10631141|PMID:10953183|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12813570|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14610121|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15558291|PMID:15824374|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:16831973|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26713717|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:33731477|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9266722|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 9051825 Prnp prion protein (Kanno blood group) gene DOID:9006061 Cerebral Amyloidosis with Spongiform Encephalopathy ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyloidosis cerebral with spongiform encephalopathy PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 9051825 Prnp prion protein (Kanno blood group) gene DOID:9008393 Spinocerebellar Ataxia and Plaque-Like Deposits ISO RGD:737306 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia and plaque-like deposits PMID:10079068|PMID:10437852|PMID:10526198|PMID:10581230|PMID:10953203|PMID:11488277|PMID:11506406|PMID:11506411|PMID:11749972|PMID:11756597|PMID:11840201|PMID:11967261|PMID:12172394|PMID:12451207|PMID:12601712|PMID:12867116|PMID:12891686|PMID:1353341|PMID:14520676|PMID:14562104|PMID:14761942|PMID:14872044|PMID:14970845|PMID:15277640|PMID:15539564|PMID:15967879|PMID:15987701|PMID:16217673|PMID:16315279|PMID:16369046|PMID:16380907|PMID:16391566|PMID:16565881|PMID:1672296|PMID:1674033|PMID:1677164|PMID:1682813|PMID:1684089|PMID:16969862|PMID:17029785|PMID:17494694|PMID:17666888|PMID:18955686|PMID:19422533|PMID:19422537|PMID:19696976|PMID:19703264|PMID:1971924|PMID:19923577|PMID:20301407|PMID:20583301|PMID:20592908|PMID:21269331|PMID:2180366|PMID:21839748|PMID:2190844|PMID:21909425|PMID:21983261|PMID:22097954|PMID:22108575|PMID:22561193|PMID:22947063|PMID:22999564|PMID:23132868|PMID:23176099|PMID:23320809|PMID:23527023|PMID:23555862|PMID:23668481|PMID:2378641|PMID:24583440|PMID:24838726|PMID:25482600|PMID:2564168|PMID:2572450|PMID:25741868|PMID:25818675|PMID:26268049|PMID:26578040|PMID:26791950|PMID:27341347|PMID:2783132|PMID:28492532|PMID:29382530|PMID:29887139|PMID:7902693|PMID:7902971|PMID:7908444|PMID:8137139|PMID:8461023|PMID:8698234|PMID:9643750|PMID:9653185|PMID:9748018|PMID:9751723|PMID:9789072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:0060318 acute promyelocytic leukemia ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:731382 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:22521416|PMID:26657937|PMID:28492532 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive ISO RGD:731382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive PMID:16307017|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532|PMID:31775759 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:10487 Hirschsprung's disease ISO RGD:731382 D RGD:9068941 20200609 RGD protein:decreased expression:aganglionic colon: PMID:8831584|REF_RGD_ID:12910727 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:10487 Hirschsprung's disease ISO RGD:731382 D RGD:9068941 20200609 RGD protein:decreased expression:intestine smooth muscle" PMID:9247236|REF_RGD_ID:12910747 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:11044 gastroschisis severity ISO RGD:620568 D RGD:9068941 20200609 RGD protein:decreased expression:intestine: PMID:15486901|REF_RGD_ID:12910745 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:11054 urinary bladder cancer ISO RGD:731382 D RGD:9068941 20200609 RGD urinary bladder small cell carcinoma; protein:increased expression:tumor:14/52 (27%) positive (>10% staining) PMID:15502806|REF_RGD_ID:2292430 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:12309 urticaria pigmentosa ISO RGD:731382 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: MASTOCYTOSIS, MACULOPAPULAR CUTANEOUS PMID:11380399|PMID:11493470|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:21689725|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7691885|PMID:8589724|PMID:9827716|PMID:9990072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:12336 male infertility ISO RGD:620568 D RGD:9068941 20200609 RGD PMID:12932303|REF_RGD_ID:1600050 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:12449 aplastic anemia severity ISO RGD:620568 D RGD:9068941 20200609 RGD PMID:7694680|REF_RGD_ID:12910751 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neoplasm PMID:25157968|PMID:28492532 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:1790 malignant mesothelioma ISO RGD:731382 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:23056237 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10224103|PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12697809|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16226710|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22626674|PMID:22932406|PMID:23106360|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:28492532|PMID:29098070|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10362788|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22932406|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:28492532|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22932406|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28710566|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma ISO RGD:731382 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Melanoma PMID:10224103|PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:11984533|PMID:12960119|PMID:14645423|PMID:14695343|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16226710|PMID:16327443|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18724244|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19847891|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:20890793|PMID:21131919|PMID:21159146|PMID:21262832|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22626674|PMID:22932406|PMID:23106360|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28506695|PMID:28710566|PMID:29098070|PMID:29923175|PMID:31497890|PMID:33212994|PMID:34338390|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:1909 melanoma disease_progression ISO RGD:731382 D RGD:9068941 20200609 RGD PMID:9310959|REF_RGD_ID:12910725 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:1967 leiomyosarcoma ISO RGD:731382 D RGD:9068941 20200609 RGD Uterine; protein:increased expression:tumor:10/14 tumors (71%) PMID:17367465|REF_RGD_ID:2292170 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:2154 nephroblastoma disease_progression ISO RGD:731382 D RGD:9068941 20200609 RGD PMID:19010635|REF_RGD_ID:12910726 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:2226 myeloproliferative neoplasm ISO RGD:731382 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm PMID:11208730|PMID:11505412|PMID:15837988|PMID:17259998|PMID:19175693|PMID:21689725|PMID:23582185|PMID:24847623|PMID:25157968|PMID:28492532 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:2361 macrocytic anemia ISO RGD:731383 D RGD:9068941 20220825 MouseDO 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:2394 ovarian cancer ISO RGD:731382 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:22703879|PMID:25176472|PMID:25741868|PMID:28492532|PMID:31911633|PMID:32091409 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:2531 hematologic cancer ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hematological malignancies PMID:11380399|PMID:11493470|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16741525|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:21689725|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7513208|PMID:7691885|PMID:8589724|PMID:9657776|PMID:9827716|PMID:9990072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:2913 acute pancreatitis ISO RGD:620568 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:jejunum PMID:23599644|REF_RGD_ID:12910752 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:2998 testicular cancer ISO RGD:731382 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cancer of the testes | ClinVar Annotator: match by term: Malignant tumor of testis PMID:25741868|PMID:28492532|PMID:28724667|PMID:31350202 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:2999 granulosa cell tumor ISO RGD:731382 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:18028988|REF_RGD_ID:2302173 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:3008 invasive ductal carcinoma severity ISO RGD:731382 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:loss of expression associated with lymph node metastasis (p<0.0001) and reduced disease-free survival (p=0.0041) PMID:16721362|REF_RGD_ID:2292426 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:3082 interstitial lung disease ISO RGD:731382 D RGD:9068941 20200609 RGD PMID:15887294|REF_RGD_ID:12910743 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:3263 piebaldism ISO RGD:731382 D RGD:7240710 20180130 OMIM 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:3263 piebaldism ISO RGD:731382 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Partial albinism | ClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: Piebaldism with sensorineural deafness | ClinVar Annotator: match by term: Piebaldism, progressive PMID:10554798|PMID:11074500|PMID:11174389|PMID:11380399|PMID:1370874|PMID:1376329|PMID:1384325|PMID:15194144|PMID:16081693|PMID:16199547|PMID:16307017|PMID:17065430|PMID:1717985|PMID:1720553|PMID:17525721|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20890793|PMID:22670867|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24627108|PMID:24728327|PMID:25079768|PMID:25176472|PMID:25637381|PMID:25741868|PMID:25975190|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:28724667|PMID:30019023|PMID:31350202|PMID:31775759|PMID:32220041|PMID:338655|PMID:34008892|PMID:7529964|PMID:9450866|PMID:9699740 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:3275 thymoma ISO RGD:731382 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thymoma PMID:10224103|PMID:10680913|PMID:11276010|PMID:11505412|PMID:12960119|PMID:14977822|PMID:15790786|PMID:16226710|PMID:16731599|PMID:16908931|PMID:17372901|PMID:17699867|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18980976|PMID:19461405|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19996579|PMID:20736294|PMID:20970876|PMID:21159146|PMID:21325067|PMID:21642685|PMID:21690468|PMID:21969494|PMID:22261812|PMID:22357254|PMID:23375402|PMID:23598963|PMID:24755198|PMID:25157968|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28710566|PMID:7530509|PMID:9438854 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:349 systemic mastocytosis ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic mast cell disease PMID:18559612 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:350 mastocytosis ISO RGD:731382 D RGD:7240710 20180130 OMIM 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:350 mastocytosis ISO RGD:731382 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Mast cell disease | ClinVar Annotator: match by term: Mastocytosis PMID:10554798|PMID:11380399|PMID:15790786|PMID:16081693|PMID:16307017|PMID:17065430|PMID:17525721|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20890793|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:25975190|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:28724667|PMID:30019023|PMID:31350202|PMID:31775759|PMID:7529964|PMID:8589724 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:3663 cutaneous mastocytosis ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutaneous mastocytosis PMID:11276010|PMID:11380399|PMID:11493470|PMID:11505412|PMID:12960119|PMID:15173254|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17259998|PMID:17372901|PMID:18024392|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19812602|PMID:19865100|PMID:20736294|PMID:21159146|PMID:21689725|PMID:22357254|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9827716|PMID:9990072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:3665 diffuse cutaneous mastocytosis ISO RGD:731382 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: MASTOCYTOSIS, DIFFUSE CUTANEOUS PMID:11380399|PMID:11493470|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:21689725|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7691885|PMID:8589724|PMID:9827716|PMID:9990072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:3717 gastric adenocarcinoma ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gastric adenocarcinoma PMID:11073817|PMID:11276010|PMID:11526490|PMID:15790786|PMID:16908931|PMID:17372901|PMID:17824795|PMID:18510589|PMID:18980976|PMID:20545949|PMID:22626674|PMID:23648119|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29098070|PMID:7530509|PMID:9438854 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:3907 lung squamous cell carcinoma ISO RGD:731382 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:25741868 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:3908 lung non-small cell carcinoma ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Non-small cell lung carcinoma PMID:11276010|PMID:15790786|PMID:16731599|PMID:16908931|PMID:17372901|PMID:18448188|PMID:18980976|PMID:19671763|PMID:19996579|PMID:21642685|PMID:21690468|PMID:22261812|PMID:22357254|PMID:23598963|PMID:25157968|PMID:27771813|PMID:27981619|PMID:28492532|PMID:7530509|PMID:9438854 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:4226 endometrial stromal sarcoma ISO RGD:731382 D RGD:9068941 20200609 RGD protein:increased expression:tumor:increased in 6/8 (75%) of tumors PMID:17367465|REF_RGD_ID:2292170 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:4440 seminoma ISO RGD:731382 D RGD:9068941 20200609 RGD DNA:transversion:CDS:2467G>C, amino acid D816H PMID:10362788|REF_RGD_ID:2292181 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:4441 dysgerminoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysgerminoma PMID:10362788|PMID:11276010|PMID:11380399|PMID:11493470|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18955458|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:20147452|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9827716|PMID:9990072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:731382 D RGD:9068941 20200609 RGD chromophobe RCC only; mRNA:increased expression:tumor:positive in 6/7 chromophobe RCCs, but 0/15 clear cell RCCs and 1/15 papillary RCCs PMID:15780567|REF_RGD_ID:2292414 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:4450 renal cell carcinoma ISO RGD:731382 D RGD:9068941 20200609 RGD papillary RCC only; DNA:mutation:intron:heterozygous T>A mutation in intron 17 found in 94% of cases, also protein found to be cytoplasmic not membrane-bound in 100% of cases PMID:15073597|REF_RGD_ID:2292421 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:731382 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:5389 oxyphilic adenoma ISO RGD:731382 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:positive in 7/8 renal oncocytomas PMID:15780567|REF_RGD_ID:2292414 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:5409 lung small cell carcinoma ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15499612 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:5419 schizophrenia ISO RGD:731382 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:16307017|PMID:22703879|PMID:24728327|PMID:25741868|PMID:28492532|PMID:31775759 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:5557 testicular germ cell cancer ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis PMID:10362788|PMID:11276010|PMID:15790786|PMID:16731599|PMID:18955458|PMID:19164557|PMID:20147452|PMID:21642685|PMID:21690468|PMID:25157968|PMID:25741868|PMID:26822237|PMID:7530509|PMID:9438854 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:612 primary immunodeficiency disease ISO RGD:731383 D RGD:9068941 20200609 RGD PMID:12354381|REF_RGD_ID:12910746 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:6171 uterine carcinosarcoma ISO RGD:731382 D RGD:9068941 20200609 RGD Uterine Carcinosarcomas; protein:increased expression:tumor:10/12 tumors (83%) PMID:17367465|REF_RGD_ID:2292170 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:630 genetic disease ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:8440 ileus treatment ISO RGD:620568 D RGD:9068941 20220421 RGD PMID:30852906|REF_RGD_ID:151893492 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:850 lung disease ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21471107 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:8923 skin melanoma ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant melanoma of skin PMID:11073817|PMID:11276010|PMID:11526490|PMID:15790786|PMID:16908931|PMID:17372901|PMID:17824795|PMID:18510589|PMID:18980976|PMID:20545949|PMID:22626674|PMID:23648119|PMID:25157968|PMID:26619011|PMID:28492532|PMID:29098070|PMID:7530509|PMID:9438854 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple (human) PMID:17768701|REF_RGD_ID:2302175 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9000457 Germ Cell and Embryonal Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD DNA:mutations:exon (human) PMID:18006222|REF_RGD_ID:2302174 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9001581 Constipation ISO RGD:620568 D RGD:9068941 20220505 RGD mRNA, protein:decreased expression:colon PMID:33792838|REF_RGD_ID:152025536 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9002566 Gastric Reperfusion Injury ISO RGD:620568 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:stomach: PMID:20040059|REF_RGD_ID:12911222 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9002762 Ovarian Neoplasms disease_progression ISO RGD:731382 D RGD:9068941 20200609 RGD advanced serous ovarian carcinoma; protein:increased expression:tumor:expression correlated with disease progression after first-line chemotherapy (i.e. chemotherapy resistance), p=0.029 PMID:15033665|REF_RGD_ID:2292422 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731383 D RGD:9068941 20200609 RGD PMID:25972476|REF_RGD_ID:12910744 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:731382 D RGD:7240710 20180130 OMIM 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis PMID:10362788|PMID:11276010|PMID:15790786|PMID:16731599|PMID:18955458|PMID:19164557|PMID:20147452|PMID:21642685|PMID:21690468|PMID:25157968|PMID:25741868|PMID:26822237|PMID:7530509|PMID:9438854 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9004240 Phyllodes Tumor severity ISO RGD:731382 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significantly more malignant tumors positive for KIT (46%) vs benign (17%) or borderline (24%), p=0.001 PMID:15044924|REF_RGD_ID:2292419 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9004283 Transplant Rejection ISO RGD:620568 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:9862859|REF_RGD_ID:12910749 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9004590 Acute Liver Failure ISO RGD:731382 D RGD:9068941 20200609 RGD mRNA:increased expression:liver: PMID:10385646|REF_RGD_ID:12910730 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22277784 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:620568 D RGD:9068941 20200609 RGD DNA:mutation (rat) PMID:18445266|REF_RGD_ID:2302172 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620568 D RGD:9068941 20221020 RGD protein:increased expression:pancreas PMID:17235568|REF_RGD_ID:2311225 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9006532 Hematologic Neoplasms ISO RGD:731382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hematologic neoplasm | ClinVar Annotator: match by term: Hematological neoplasm PMID:10362788|PMID:11073817|PMID:11276010|PMID:11380399|PMID:11493470|PMID:11526490|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16741525|PMID:16908931|PMID:16912224|PMID:17259998|PMID:17372901|PMID:17824795|PMID:18024392|PMID:18510589|PMID:18955458|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:20147452|PMID:20545949|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22504184|PMID:22626674|PMID:23582185|PMID:23648119|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26619011|PMID:26822237|PMID:27777718|PMID:28492532|PMID:29098070|PMID:7479840|PMID:7513208|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9657776|PMID:9827716|PMID:9990072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9006796 Gastrointestinal Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD Gastrointestinal Stromal Tumors PMID:9697690|REF_RGD_ID:1600047 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007058 Primitive Peripheral Neuroectodermal Tumors ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15618851 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28166811|PMID:28492532|PMID:29146883|PMID:31775759|PMID:7529964 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:29146883|PMID:29625052|PMID:31775759|PMID:7529964 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10554798|PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:29146883|PMID:29625052|PMID:31775759|PMID:7529964 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:731382 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:10224103|PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16226710|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25886408|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9007432 Latent Tuberculosis ISO RGD:731382 D RGD:9068941 20210212 RGD mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human PMID:29602771|REF_RGD_ID:41404732 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:731382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20941507 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:mean immunoreactive score = 5.90 in normal breast, 0.90 in malignant tissue (p=0.001) PMID:14669790|REF_RGD_ID:2292423 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms ISO RGD:731382 D RGD:9068941 20200609 RGD protein:increased expression:tumor:significantly increased vs fibroadenoma (p=0.035) PMID:17848740|REF_RGD_ID:2292424 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms disease_progression ISO RGD:731382 D RGD:9068941 20200609 RGD PMID:21388062|REF_RGD_ID:12910741 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9008939 Breast Neoplasms severity ISO RGD:731382 D RGD:9068941 20200609 RGD protein:expression:tumor:expression correlated with poor overall survival (p=0.051) and with high grade (p=0.019) PMID:17867595|REF_RGD_ID:2292425 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:731382 D RGD:7240710 20180130 OMIM 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9119 acute myeloid leukemia ISO RGD:731382 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:11380399|PMID:11493470|PMID:14645423|PMID:14695343|PMID:15685537|PMID:15790786|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16741525|PMID:16912224|PMID:17259998|PMID:17699867|PMID:18024392|PMID:18724244|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:20890793|PMID:21262832|PMID:21642685|PMID:21689725|PMID:22504184|PMID:22932406|PMID:23149070|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:28506695|PMID:28724667|PMID:31350202|PMID:7479840|PMID:7513208|PMID:7691885|PMID:8589724|PMID:9657776|PMID:9827716|PMID:9990072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:7240710 20180130 OMIM 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731382 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:10224103|PMID:10362788|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11074500|PMID:11208730|PMID:11276010|PMID:11380399|PMID:11493470|PMID:11505412|PMID:11526490|PMID:11984533|PMID:1279971|PMID:12878163|PMID:12960119|PMID:1370874|PMID:1384325|PMID:14645423|PMID:14695343|PMID:14977822|PMID:15194144|PMID:15236194|PMID:15685537|PMID:15790786|PMID:15824741|PMID:15837988|PMID:15897563|PMID:15972446|PMID:16046538|PMID:16081693|PMID:16143141|PMID:16183119|PMID:16199547|PMID:16220461|PMID:16226710|PMID:16307017|PMID:16327443|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16912224|PMID:16954519|PMID:17001171|PMID:17065430|PMID:17107413|PMID:17124503|PMID:1720553|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17525721|PMID:17576681|PMID:17699867|PMID:17710669|PMID:17824795|PMID:17904548|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18567837|PMID:18724244|PMID:18830255|PMID:18936790|PMID:18955458|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19175693|PMID:19262599|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19847891|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20137753|PMID:20140688|PMID:20147452|PMID:20205869|PMID:20339585|PMID:20545949|PMID:20736294|PMID:20890793|PMID:21119596|PMID:21159146|PMID:21262832|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21854415|PMID:22083669|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22504184|PMID:22626674|PMID:22670867|PMID:22703879|PMID:22932406|PMID:23020152|PMID:23106360|PMID:23149070|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23610110|PMID:23648119|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24531699|PMID:24565205|PMID:24582309|PMID:24661573|PMID:24687822|PMID:24728327|PMID:24755198|PMID:24847623|PMID:25079768|PMID:25139846|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25886408|PMID:25975190|PMID:26158763|PMID:26619011|PMID:26689913|PMID:26822237|PMID:27023146|PMID:27068398|PMID:27214377|PMID:27258816|PMID:27527414|PMID:27577211|PMID:27771813|PMID:27777718|PMID:27854218|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28506695|PMID:28520972|PMID:28710566|PMID:28724667|PMID:28915580|PMID:29098070|PMID:29146883|PMID:29439183|PMID:29625052|PMID:29641532|PMID:29896733|PMID:29923175|PMID:30019023|PMID:30280421|PMID:30374176|PMID:30792533|PMID:31350202|PMID:31497890|PMID:31775759|PMID:31911633|PMID:32091409|PMID:32220041|PMID:33212994|PMID:34338390|PMID:36669190|PMID:7479840|PMID:7513208|PMID:7529964|PMID:7530509|PMID:7687267|PMID:7691885|PMID:7694728|PMID:8589724|PMID:8875953|PMID:9029028|PMID:9438854|PMID:9536098|PMID:9657776|PMID:9797363|PMID:9827716|PMID:9990072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9253 gastrointestinal stromal tumor disease_progression ISO RGD:731382 D RGD:9068941 20220421 RGD DNA:SNP: :rs17084733 (human) PMID:30983504|REF_RGD_ID:151709007 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:9254 mast-cell leukemia ISO RGD:731382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mast cell leukemia PMID:11380399|PMID:11493470|PMID:15972446|PMID:16352739|PMID:16384925|PMID:16731599|PMID:16912224|PMID:17259998|PMID:18024392|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19865100|PMID:21689725|PMID:22504184|PMID:23582185|PMID:23714533|PMID:24045550|PMID:25157968|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27777718|PMID:28492532|PMID:7479840|PMID:7691885|PMID:8589724|PMID:9827716|PMID:9990072 9051831 Kit KIT proto-oncogene, receptor tyrosine kinase gene DOID:962 neurofibroma ISO RGD:731382 D RGD:9068941 20200609 RGD mRNA:increased expression:skin: PMID:7692836|REF_RGD_ID:12910728 9051859 Gmnn geminin DNA replication inhibitor gene DOID:0060306 Meier-Gorlin syndrome ISO RGD:1317736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome PMID:11477602|PMID:14973488|PMID:26637980 9051859 Gmnn geminin DNA replication inhibitor gene DOID:0080517 Meier-Gorlin syndrome 6 ISO RGD:1317736 D RGD:7240710 20190424 OMIM 9051859 Gmnn geminin DNA replication inhibitor gene DOID:0080517 Meier-Gorlin syndrome 6 ISO RGD:1317736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meier-Gorlin syndrome 6 PMID:11477602|PMID:14973488|PMID:25741868|PMID:26637980 9051859 Gmnn geminin DNA replication inhibitor gene DOID:630 genetic disease ISO RGD:1317736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9051859 Gmnn geminin DNA replication inhibitor gene DOID:684 hepatocellular carcinoma ISO RGD:1317736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9051881 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:0060041 autism spectrum disorder ISO RGD:1354204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9051881 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1354204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9051881 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1354204 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 9051881 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:12177 common variable immunodeficiency ISO RGD:1354204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9051881 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:2729 dyskeratosis congenita ISO RGD:1354204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9051881 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1354204 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 9051881 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1354204 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 9051881 Eif4a1 eukaryotic translation initiation factor 4A1 gene DOID:630 genetic disease ISO RGD:1354204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051895 Pycr2 pyrroline-5-carboxylate reductase 2 gene DOID:0060788 hypomyelinating leukodystrophy 10 ISO RGD:1320768 D RGD:7240710 20180130 OMIM 9051895 Pycr2 pyrroline-5-carboxylate reductase 2 gene DOID:0060788 hypomyelinating leukodystrophy 10 ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10 PMID:25741868|PMID:25865492|PMID:27130255|PMID:27860360|PMID:28492532 9051895 Pycr2 pyrroline-5-carboxylate reductase 2 gene DOID:10907 microcephaly ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9051895 Pycr2 pyrroline-5-carboxylate reductase 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9051895 Pycr2 pyrroline-5-carboxylate reductase 2 gene DOID:630 genetic disease ISO RGD:1320768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9051895 Pycr2 pyrroline-5-carboxylate reductase 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9051909 Pamr1 peptidase domain containing associated with muscle regeneration 1 gene DOID:1059 intellectual disability ISO RGD:1604026 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9051909 Pamr1 peptidase domain containing associated with muscle regeneration 1 gene DOID:6000 congestive heart failure ISO RGD:1604026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 9051909 Pamr1 peptidase domain containing associated with muscle regeneration 1 gene DOID:630 genetic disease ISO RGD:1604026 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051909 Pamr1 peptidase domain containing associated with muscle regeneration 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1604026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9051909 Pamr1 peptidase domain containing associated with muscle regeneration 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9051909 Pamr1 peptidase domain containing associated with muscle regeneration 1 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:1604026 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28751527 9051926 Cspp1 centrosome and spindle pole associated protein 1 gene DOID:0050778 Meckel syndrome ISO RGD:1605630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:24360803|PMID:25558065|PMID:25741868 9051926 Cspp1 centrosome and spindle pole associated protein 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1605630 D RGD:7240710 20180130 OMIM 9051926 Cspp1 centrosome and spindle pole associated protein 1 gene DOID:0110990 Joubert syndrome 21 ISO RGD:1605630 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Joubert syndrome 21 PMID:16199547|PMID:17576681|PMID:20301500|PMID:24033266|PMID:24360803|PMID:24360807|PMID:24360808|PMID:25558065|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27894351|PMID:28125082|PMID:28492532|PMID:29146704|PMID:29706646|PMID:9536098 9051926 Cspp1 centrosome and spindle pole associated protein 1 gene DOID:10907 microcephaly ISO RGD:1605630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 9051926 Cspp1 centrosome and spindle pole associated protein 1 gene DOID:630 genetic disease ISO RGD:1605630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9051926 Cspp1 centrosome and spindle pole associated protein 1 gene DOID:9008086 Developmental Disabilities ISO RGD:1605630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 9051993 Msmp microseminoprotein, prostate associated gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:2304156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9051993 Msmp microseminoprotein, prostate associated gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:2304156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 9051993 Msmp microseminoprotein, prostate associated gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:2304156 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9051993 Msmp microseminoprotein, prostate associated gene DOID:0080942 anauxetic dysplasia ISO RGD:2304156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 9051993 Msmp microseminoprotein, prostate associated gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:2304156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 9051993 Msmp microseminoprotein, prostate associated gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:2304156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9051993 Msmp microseminoprotein, prostate associated gene DOID:630 genetic disease ISO RGD:2304156 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9051993 Msmp microseminoprotein, prostate associated gene DOID:9562 primary ciliary dyskinesia ISO RGD:2304156 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9051993 Msmp microseminoprotein, prostate associated gene DOID:9870 galactosemia ISO RGD:2304156 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9052020 Mrpl33 mitochondrial ribosomal protein L33 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343335 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9052020 Mrpl33 mitochondrial ribosomal protein L33 gene DOID:630 genetic disease ISO RGD:1343335 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052032 Ccdc88c coiled-coil domain containing 88C gene DOID:0050952 spastic ataxia ISO RGD:1604894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 9052032 Ccdc88c coiled-coil domain containing 88C gene DOID:0050986 spinocerebellar ataxia type 40 ISO RGD:1604894 D RGD:7240710 20180130 OMIM 9052032 Ccdc88c coiled-coil domain containing 88C gene DOID:0050986 spinocerebellar ataxia type 40 ISO RGD:1604894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 40 PMID:18414213|PMID:25062847|PMID:25741868|PMID:28492532 9052032 Ccdc88c coiled-coil domain containing 88C gene DOID:0080054 achondrogenesis type IA ISO RGD:1604894 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 9052032 Ccdc88c coiled-coil domain containing 88C gene DOID:10908 hydrocephalus ISO RGD:1604894 D RGD:7240710 20180130 OMIM 9052032 Ccdc88c coiled-coil domain containing 88C gene DOID:10908 hydrocephalus ISO RGD:1604894 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CCDC88C-related condition | ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1 PMID:18414213|PMID:21031079|PMID:23042809|PMID:25062847|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29225145 9052032 Ccdc88c coiled-coil domain containing 88C gene DOID:630 genetic disease ISO RGD:1604894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:21031079|PMID:25062847|PMID:25741868|PMID:26467025|PMID:27652284|PMID:28492532 9052032 Ccdc88c coiled-coil domain containing 88C gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1604894 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9052062 Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:11830 myopia ISO RGD:1344062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23396134 9052062 Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:2717 Bloom syndrome ISO RGD:1344062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9052062 Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:1344062 D RGD:9068941 20200609 RGD protein:decreased expression:temporal neocortex (human) PMID:23200899|REF_RGD_ID:10003135 9052062 Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:630 genetic disease ISO RGD:1344062 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052062 Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9002189 High Myopia ISO RGD:1344062 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS1+7218 (human) PMID:24150758|REF_RGD_ID:10003136 9052062 Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620395 D RGD:9068941 20200609 RGD protein:decreased expression:brain, membrane (rat) PMID:19002579|REF_RGD_ID:10003129 9052062 Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9007090 Experimental Seizures ISO RGD:620395 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus, hippocampus CA1, cerebral cortex (rat) PMID:23200899|REF_RGD_ID:10003135 9052062 Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1344062 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21115823 9052062 Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9008675 Dyskinesias susceptibility ISO RGD:1551710 D RGD:9068941 20200609 RGD PMID:21115823|REF_RGD_ID:10003138 9052062 Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9256 colorectal cancer ISO RGD:1344062 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 9052062 Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 gene DOID:9835 refractive error ISO RGD:1344062 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20835236 9052103 A4galt alpha 1,4-galactosyltransferase (P1PK blood group) gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:734223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:28492532 9052103 A4galt alpha 1,4-galactosyltransferase (P1PK blood group) gene DOID:1059 intellectual disability ISO RGD:734223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9052103 A4galt alpha 1,4-galactosyltransferase (P1PK blood group) gene DOID:4257 Caffey disease ISO RGD:734223 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:20971946|PMID:28492532 9052103 A4galt alpha 1,4-galactosyltransferase (P1PK blood group) gene DOID:630 genetic disease ISO RGD:734223 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9052103 A4galt alpha 1,4-galactosyltransferase (P1PK blood group) gene DOID:8584 Burkitt lymphoma ISO RGD:734223 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11482875 9052103 A4galt alpha 1,4-galactosyltransferase (P1PK blood group) gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:734223 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 9052103 A4galt alpha 1,4-galactosyltransferase (P1PK blood group) gene DOID:9005170 polyagglutination ISO RGD:734223 D RGD:7240710 20230505 OMIM 9052103 A4galt alpha 1,4-galactosyltransferase (P1PK blood group) gene DOID:9005651 NOR POLYAGGLUTINATION SYNDROME ISO RGD:734223 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: NOR polyagglutination syndrome PMID:22965229|PMID:7072192|PMID:9920164 9052128 Fam187b family with sequence similarity 187 member B gene DOID:0110222 Brugada syndrome 5 ISO RGD:1603571 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 9052128 Fam187b family with sequence similarity 187 member B gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1603571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9052128 Fam187b family with sequence similarity 187 member B gene DOID:543 dystonia ISO RGD:1603571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 9052128 Fam187b family with sequence similarity 187 member B gene DOID:630 genetic disease ISO RGD:1603571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052141 Tnr tenascin R gene DOID:14330 Parkinson's disease ISO RGD:732585 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Parkinson disease PMID:26122175|PMID:26595808|PMID:28492532|PMID:33278868 9052141 Tnr tenascin R gene DOID:1540 parathyroid carcinoma ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9052141 Tnr tenascin R gene DOID:3755 antithrombin III deficiency ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary antithrombin deficiency 9052141 Tnr tenascin R gene DOID:630 genetic disease ISO RGD:732585 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26122175|PMID:26595808|PMID:28492532|PMID:32099069|PMID:33278868 9052141 Tnr tenascin R gene DOID:9002516 NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS ISO RGD:732585 D RGD:7240710 20220216 OMIM 9052141 Tnr tenascin R gene DOID:9002516 NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS ISO RGD:732585 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | ClinVar Annotator: match by term: Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus PMID:25741868|PMID:28334938|PMID:32099069 9052141 Tnr tenascin R gene DOID:9003281 Spontaneous Abortions ISO RGD:732585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9052141 Tnr tenascin R gene DOID:9007402 Gliosis ISO RGD:732585 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15120744 9052141 Tnr tenascin R gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:25741868|PMID:26333682 9052141 Tnr tenascin R gene DOID:9253 gastrointestinal stromal tumor ISO RGD:732585 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9052174 Bag1 BAG cochaperone 1 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9052174 Bag1 BAG cochaperone 1 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1313091 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9052174 Bag1 BAG cochaperone 1 gene DOID:0080600 COVID-19 ISO RGD:1313091 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9052174 Bag1 BAG cochaperone 1 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9052174 Bag1 BAG cochaperone 1 gene DOID:10283 prostate cancer ISO RGD:1313091 D RGD:9068941 20200609 RGD DNA, protein:amplification, increased expression:prostate gland PMID:17503439|REF_RGD_ID:2293885 9052174 Bag1 BAG cochaperone 1 gene DOID:12528 lesion of sciatic nerve ISO RGD:1305203 D RGD:9068941 20200609 RGD PMID:23108487|REF_RGD_ID:13506903 9052174 Bag1 BAG cochaperone 1 gene DOID:12858 Huntington's disease treatment ISO RGD:1313092 D RGD:9068941 20200609 RGD PMID:18400759|REF_RGD_ID:13506921 9052174 Bag1 BAG cochaperone 1 gene DOID:1380 endometrial cancer ISO RGD:1313091 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:15297164|REF_RGD_ID:2293886 9052174 Bag1 BAG cochaperone 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1313091 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11181661|REF_RGD_ID:2293888 9052174 Bag1 BAG cochaperone 1 gene DOID:2893 cervix carcinoma ISO RGD:1313091 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:10047462|REF_RGD_ID:2293889 9052174 Bag1 BAG cochaperone 1 gene DOID:3008 invasive ductal carcinoma ISO RGD:1313091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19066611 9052174 Bag1 BAG cochaperone 1 gene DOID:630 genetic disease ISO RGD:1313091 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052174 Bag1 BAG cochaperone 1 gene DOID:9000081 Lymphatic Metastasis disease_progression ISO RGD:1313091 D RGD:9068941 20200609 RGD associated with Breast Neoplasms:protein:increased expression:breast PMID:18430249|REF_RGD_ID:2292908 9052174 Bag1 BAG cochaperone 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1305203 D RGD:9068941 20200609 RGD PMID:12215270|REF_RGD_ID:2296021 9052174 Bag1 BAG cochaperone 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1313091 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19066611 9052174 Bag1 BAG cochaperone 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1313091 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9052174 Bag1 BAG cochaperone 1 gene DOID:9870 galactosemia ISO RGD:1313091 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9052188 Mnat1 MNAT1 component of CDK activating kinase gene DOID:630 genetic disease ISO RGD:733503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052188 Mnat1 MNAT1 component of CDK activating kinase gene DOID:9007844 Branchiootic Syndrome 3 ISO RGD:733503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 3 PMID:25414181|PMID:28492532 9052207 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1318685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9052207 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:11054 urinary bladder cancer ISO RGD:1318685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22109888 9052207 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:12849 autistic disorder ISO RGD:1318685 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9052207 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:3070 high grade glioma ISO RGD:1318685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22109888 9052207 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1318685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28914995 9052207 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:630 genetic disease ISO RGD:1318685 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052207 Hmgn5 high mobility group nucleosome binding domain 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1318685 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22109888 9052216 Snrpc small nuclear ribonucleoprotein polypeptide C gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1314465 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9052216 Snrpc small nuclear ribonucleoprotein polypeptide C gene DOID:3492 mixed connective tissue disease ISO RGD:1314465 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:10555891|REF_RGD_ID:10766447 9052216 Snrpc small nuclear ribonucleoprotein polypeptide C gene DOID:630 genetic disease ISO RGD:1314465 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052216 Snrpc small nuclear ribonucleoprotein polypeptide C gene DOID:65 connective tissue disease ISO RGD:1314465 D RGD:9068941 20200609 RGD PMID:2968364|REF_RGD_ID:10448928 9052216 Snrpc small nuclear ribonucleoprotein polypeptide C gene DOID:9074 systemic lupus erythematosus ISO RGD:1314465 D RGD:9068941 20200609 RGD PMID:8647956|REF_RGD_ID:10766446 9052232 CUNH21orf58 chromosome unknown C21orf58 homolog gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1351432 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 9052232 CUNH21orf58 chromosome unknown C21orf58 homolog gene DOID:0110122 Axenfeld-Rieger syndrome type 3 ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:11170889|PMID:21681106 9052232 CUNH21orf58 chromosome unknown C21orf58 homolog gene DOID:0110266 cataract 9 multiple types ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 9052232 CUNH21orf58 chromosome unknown C21orf58 homolog gene DOID:12849 autistic disorder ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9052232 CUNH21orf58 chromosome unknown C21orf58 homolog gene DOID:630 genetic disease ISO RGD:1351432 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052232 CUNH21orf58 chromosome unknown C21orf58 homolog gene DOID:891 progressive myoclonus epilepsy ISO RGD:1351432 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 9052232 CUNH21orf58 chromosome unknown C21orf58 homolog gene DOID:9263 homocystinuria ISO RGD:1351432 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 9052232 CUNH21orf58 chromosome unknown C21orf58 homolog gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351432 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9052250 Rbm19 RNA binding motif protein 19 gene DOID:630 genetic disease ISO RGD:1318980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052289 Ccdc112 coiled-coil domain containing 112 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1606143 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9052289 Ccdc112 coiled-coil domain containing 112 gene DOID:12849 autistic disorder ISO RGD:1606143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9052289 Ccdc112 coiled-coil domain containing 112 gene DOID:630 genetic disease ISO RGD:1606143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052289 Ccdc112 coiled-coil domain containing 112 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9052289 Ccdc112 coiled-coil domain containing 112 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1606143 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9052304 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:0080600 COVID-19 severity ISO RGD:737289 D RGD:9068941 20200625 RGD associated with cardiovascular system disease;protein:increased expression:blood (human) PMID:32456948|REF_RGD_ID:30309957 9052304 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:12849 autistic disorder ISO RGD:737289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9052304 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:5419 schizophrenia ISO RGD:737289 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9052304 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:630 genetic disease ISO RGD:737289 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052304 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:7998 hyperthyroidism ISO RGD:620131 D RGD:9068941 20200609 RGD protein:decreased activity:liver, mitochondrion (rat) PMID:3422549|REF_RGD_ID:4105460 9052304 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 9052304 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620131 D RGD:9068941 20200609 RGD protein:decreased activity:heart, mitochondrion (rat) PMID:3548709|REF_RGD_ID:2326100 9052304 Bdh1 3-hydroxybutyrate dehydrogenase 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:737289 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 9052322 Eno4 enolase 4 gene DOID:12336 male infertility ISO RGD:1351322 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23446454 9052322 Eno4 enolase 4 gene DOID:630 genetic disease ISO RGD:1351322 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052356 Zswim1 zinc finger SWIM-type containing 1 gene DOID:2234 focal epilepsy ISO RGD:1313910 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9052356 Zswim1 zinc finger SWIM-type containing 1 gene DOID:630 genetic disease ISO RGD:1313910 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052356 Zswim1 zinc finger SWIM-type containing 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1313910 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 9052373 Slc36a4 solute carrier family 36 member 4 gene DOID:1059 intellectual disability ISO RGD:1323033 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9052373 Slc36a4 solute carrier family 36 member 4 gene DOID:630 genetic disease ISO RGD:1323033 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052404 Klhdc2 kelch domain containing 2 gene DOID:630 genetic disease ISO RGD:1315157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052404 Klhdc2 kelch domain containing 2 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1315157 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9052404 Klhdc2 kelch domain containing 2 gene DOID:9004881 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy ISO RGD:1315157 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy PMID:25741868 9052424 Dedd2 death effector domain containing 2 gene DOID:0050888 syndromic intellectual disability ISO RGD:1353632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability 9052424 Dedd2 death effector domain containing 2 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9052424 Dedd2 death effector domain containing 2 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9052424 Dedd2 death effector domain containing 2 gene DOID:2340 craniosynostosis ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:23354439|PMID:26097063|PMID:28492532|PMID:28808027 9052424 Dedd2 death effector domain containing 2 gene DOID:5419 schizophrenia ISO RGD:1353632 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9052424 Dedd2 death effector domain containing 2 gene DOID:630 genetic disease ISO RGD:1353632 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052424 Dedd2 death effector domain containing 2 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9052424 Dedd2 death effector domain containing 2 gene DOID:9269 maple syrup urine disease ISO RGD:1353632 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9052437 Cdv3 CDV3 homolog gene DOID:630 genetic disease ISO RGD:1602107 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052437 Cdv3 CDV3 homolog gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1602107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868 9052437 Cdv3 CDV3 homolog gene DOID:9270 alkaptonuria ISO RGD:1602107 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9052481 Zmynd10 zinc finger MYND-type containing 10 gene DOID:0050144 Kartagener syndrome ISO RGD:1351816 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:23891469|PMID:23891471|PMID:25741868|PMID:26139845|PMID:28492532|PMID:33635866 9052481 Zmynd10 zinc finger MYND-type containing 10 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 9052481 Zmynd10 zinc finger MYND-type containing 10 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:1351816 D RGD:7240710 20180130 OMIM 9052481 Zmynd10 zinc finger MYND-type containing 10 gene DOID:0110597 primary ciliary dyskinesia 22 ISO RGD:1351816 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 | ClinVar Annotator: match by term: ZMYND10-related condition PMID:23891469|PMID:23891471|PMID:25741868|PMID:26139845|PMID:28492532|PMID:31650533|PMID:33635866 9052481 Zmynd10 zinc finger MYND-type containing 10 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1351816 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24358150|PMID:28492532|PMID:30410802 9052481 Zmynd10 zinc finger MYND-type containing 10 gene DOID:630 genetic disease ISO RGD:1351816 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9052481 Zmynd10 zinc finger MYND-type containing 10 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351816 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:23891469|PMID:23891471|PMID:25741868|PMID:26139845|PMID:26824761|PMID:28492532|PMID:31650533|PMID:31879361|PMID:33635866|PMID:9536098 9052505 Clec16a C-type lectin domain containing 16A gene DOID:0060025 immunoglobulin alpha deficiency ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20694011|PMID:27723758 9052505 Clec16a C-type lectin domain containing 16A gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1604037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C PMID:28492532 9052505 Clec16a C-type lectin domain containing 16A gene DOID:12236 primary biliary cholangitis ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21399635 9052505 Clec16a C-type lectin domain containing 16A gene DOID:1289 neurodegenerative disease ISO RGD:1314008 D RGD:9068941 20220825 MouseDO 9052505 Clec16a C-type lectin domain containing 16A gene DOID:13774 Addison's disease ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18593762 9052505 Clec16a C-type lectin domain containing 16A gene DOID:13774 Addison's disease ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs12917716C PMID:18593762|REF_RGD_ID:5491177 9052505 Clec16a C-type lectin domain containing 16A gene DOID:2377 multiple sclerosis ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18946483|PMID:19525955 9052505 Clec16a C-type lectin domain containing 16A gene DOID:2377 multiple sclerosis ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:g.194570G>A, rs7184083 PMID:21653641|REF_RGD_ID:5491175 9052505 Clec16a C-type lectin domain containing 16A gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1604037 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:28492532 9052505 Clec16a C-type lectin domain containing 16A gene DOID:5812 MHC class II deficiency ISO RGD:1604037 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9052505 Clec16a C-type lectin domain containing 16A gene DOID:630 genetic disease ISO RGD:1604037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052505 Clec16a C-type lectin domain containing 16A gene DOID:7148 rheumatoid arthritis ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs6498169G PMID:19221398|REF_RGD_ID:5491176 9052505 Clec16a C-type lectin domain containing 16A gene DOID:9074 systemic lupus erythematosus ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 9052505 Clec16a C-type lectin domain containing 16A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604037 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632545|PMID:18946483 9052505 Clec16a C-type lectin domain containing 16A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs2903692A PMID:19221398|REF_RGD_ID:5491176 9052505 Clec16a C-type lectin domain containing 16A gene DOID:9744 type 1 diabetes mellitus ISO RGD:1604037 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:rs725613 (human) PMID:18946483|REF_RGD_ID:2313978 9052570 Arl9 ADP ribosylation factor like GTPase 9 gene DOID:0070263 congenital disorder of glycosylation type IIk ISO RGD:1606161 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: TMEM165-CDG PMID:28492532 9052570 Arl9 ADP ribosylation factor like GTPase 9 gene DOID:630 genetic disease ISO RGD:1606161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052577 Tnks2 tankyrase 2 gene DOID:630 genetic disease ISO RGD:1312811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052608 Lgr4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:1059 intellectual disability ISO RGD:1605061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9052608 Lgr4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:1686 glaucoma ISO RGD:1616653 D RGD:9068941 20220825 MouseDO 9052608 Lgr4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:630 genetic disease ISO RGD:1605061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052608 Lgr4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:9005231 Self-Limited Delayed Puberty ISO RGD:1605061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Delayed puberty, self-limited PMID:32493844 9052608 Lgr4 leucine rich repeat containing G protein-coupled receptor 4 gene DOID:9005231 Self-Limited Delayed Puberty susceptibility ISO RGD:1605061 D RGD:7240710 20240320 OMIM 9052637 Ccp110 centriolar coiled-coil protein 110 gene DOID:630 genetic disease ISO RGD:1605415 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052662 Kin Kin17 DNA and RNA binding protein gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1315717 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9052662 Kin Kin17 DNA and RNA binding protein gene DOID:630 genetic disease ISO RGD:1315717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052679 Kdm5c lysine demethylase 5C gene DOID:0060768 Smith-Magenis syndrome ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis Syndrome-like PMID:27799067 9052679 Kdm5c lysine demethylase 5C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9052679 Kdm5c lysine demethylase 5C gene DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ISO RGD:1349337 D RGD:7240710 20180130 OMIM 9052679 Kdm5c lysine demethylase 5C gene DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type ISO RGD:1349337 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: KDM5C-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type PMID:10982473|PMID:15586325|PMID:1605217|PMID:16538222|PMID:16541399|PMID:17244608|PMID:18203167|PMID:18414213|PMID:18697827|PMID:19826449|PMID:21575681|PMID:23356856|PMID:25644381|PMID:25666439|PMID:25666757|PMID:25741868|PMID:25741873|PMID:27959697|PMID:28492532|PMID:28708303|PMID:29304373|PMID:31419599|PMID:32279304|PMID:34356104|PMID:36672956 9052679 Kdm5c lysine demethylase 5C gene DOID:0080506 Cornelia de Lange syndrome 2 ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:26386245|PMID:27334371|PMID:28166369|PMID:28492532|PMID:28548707|PMID:31334757|PMID:31602316 9052679 Kdm5c lysine demethylase 5C gene DOID:0112038 non-syndromic X-linked intellectual disability 1 ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 PMID:26059843|PMID:28492532 9052679 Kdm5c lysine demethylase 5C gene DOID:10534 stomach cancer ISO RGD:1349337 D RGD:9068941 20220303 RGD mRNA:increased expression:stomach (human) PMID:26858085|REF_RGD_ID:151361174 9052679 Kdm5c lysine demethylase 5C gene DOID:1059 intellectual disability ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25167861|PMID:25741868|PMID:32581362 9052679 Kdm5c lysine demethylase 5C gene DOID:12190 descending colon cancer onset ISO RGD:1349337 D RGD:9068941 20220303 RGD associate with colorectal cancer;DNA:mutations:multiple (human) PMID:30018131|REF_RGD_ID:151361178 9052679 Kdm5c lysine demethylase 5C gene DOID:12849 autistic disorder ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9052679 Kdm5c lysine demethylase 5C gene DOID:12858 Huntington's disease ISO RGD:1349337 D RGD:9068941 20200609 RGD mRNA:increased expression:caudate nucleus (human) PMID:23872847|REF_RGD_ID:9587806 9052679 Kdm5c lysine demethylase 5C gene DOID:1612 breast cancer severity ISO RGD:1349337 D RGD:9068941 20200609 RGD mRNA:altered expression:breast (human) PMID:22199269|REF_RGD_ID:9586031 9052679 Kdm5c lysine demethylase 5C gene DOID:1826 epilepsy ISO RGD:1349337 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9052679 Kdm5c lysine demethylase 5C gene DOID:219 colon cancer ISO RGD:1349337 D RGD:9068941 20220303 RGD mRNA:increased expression:colon (human) PMID:33042830|REF_RGD_ID:151361176 9052679 Kdm5c lysine demethylase 5C gene DOID:4450 renal cell carcinoma ISO RGD:1349337 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138691 9052679 Kdm5c lysine demethylase 5C gene DOID:4928 intrahepatic cholangiocarcinoma exacerbates ISO RGD:1349337 D RGD:9068941 20220303 RGD protein:decreased expression:bile duct (human) PMID:32714863|REF_RGD_ID:151361175 9052679 Kdm5c lysine demethylase 5C gene DOID:5419 schizophrenia ISO RGD:1560601 D RGD:9068941 20200609 RGD protein:increased expression:prefrontal cortex (rat) PMID:23932495|REF_RGD_ID:9586022 9052679 Kdm5c lysine demethylase 5C gene DOID:607 paraplegia ISO RGD:1349337 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:15586325|PMID:16199547|PMID:18414213|PMID:18697827|PMID:22326837|PMID:23356856|PMID:23757202|PMID:24583395|PMID:24728327|PMID:25644381|PMID:25666439|PMID:25666757|PMID:25741868|PMID:25801821|PMID:26467025|PMID:26863999|PMID:26934580|PMID:27959697|PMID:28492532|PMID:29304373|PMID:29670509|PMID:32279304 9052679 Kdm5c lysine demethylase 5C gene DOID:630 genetic disease ISO RGD:1349337 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15586325|PMID:1605217|PMID:17244608|PMID:17468742|PMID:18414213|PMID:18697827|PMID:19826449|PMID:20181063|PMID:23757202|PMID:24583395|PMID:24728327|PMID:25666439|PMID:25741868|PMID:26467025|PMID:27214403|PMID:28492532|PMID:28708303|PMID:31912665|PMID:32279304 9052679 Kdm5c lysine demethylase 5C gene DOID:684 hepatocellular carcinoma exacerbates ISO RGD:1349337 D RGD:9068941 20220303 RGD protein:increased expression:liver (human) PMID:26503415|REF_RGD_ID:11530160 9052679 Kdm5c lysine demethylase 5C gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9052679 Kdm5c lysine demethylase 5C gene DOID:9004507 Hirsutism ISO RGD:1349337 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hirsutism PMID:25741868 9052679 Kdm5c lysine demethylase 5C gene DOID:9004603 Atkin Syndrome ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:26059843|PMID:28492532 9052679 Kdm5c lysine demethylase 5C gene DOID:9005219 Abnormal Reflexes ISO RGD:1349337 D RGD:9068941 20200609 RGD DNA:missense mutations, frameshift mutations:multiple (human) PMID:18697827|REF_RGD_ID:9587807 9052679 Kdm5c lysine demethylase 5C gene DOID:9008582 Developmental Disease ISO RGD:1349337 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:28708303 9052679 Kdm5c lysine demethylase 5C gene DOID:9256 colorectal cancer ISO RGD:1349337 D RGD:9068941 20220303 RGD mRNA:increased expression:colorectum (human) PMID:32552762|REF_RGD_ID:151361177 9052679 Kdm5c lysine demethylase 5C gene DOID:9538 multiple myeloma ISO RGD:1349337 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple myeloma 9052734 Amz1 archaelysin family metallopeptidase 1 gene DOID:0111957 immunodeficiency 11A ISO RGD:1605859 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:28492532 9052734 Amz1 archaelysin family metallopeptidase 1 gene DOID:630 genetic disease ISO RGD:1605859 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052746 Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:0050545 visceral heterotaxy ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 9052746 Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:25741868 9052746 Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:0050580 hereditary lymphedema ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary lymphedema PMID:25741868|PMID:31215153 9052746 Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9052746 Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:1059 intellectual disability ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9052746 Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:2843 long QT syndrome ISO RGD:1354258 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 9052746 Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:630 genetic disease ISO RGD:1354258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052746 Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:758 situs inversus ISO RGD:1354258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 9052746 Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:9009156 Lymphatic Malformation 9 ISO RGD:1354258 D RGD:7240710 20210526 OMIM 9052746 Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 gene DOID:9009156 Lymphatic Malformation 9 ISO RGD:1354258 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CELSR1-related condition | ClinVar Annotator: match by term: Lymphatic malformation 9 PMID:25741868|PMID:26855770|PMID:28492532|PMID:31215153|PMID:31403174 9052787 Nedd1 NEDD1 gamma-tubulin ring complex targeting factor gene DOID:630 genetic disease ISO RGD:1317123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052817 LOC102012414 cytochrome P450 4B1 gene DOID:0060041 autism spectrum disorder ISO RGD:736540 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9052817 LOC102012414 cytochrome P450 4B1 gene DOID:11054 urinary bladder cancer ISO RGD:736540 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18713828 9052817 LOC102012414 cytochrome P450 4B1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:736540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to 9052817 LOC102012414 cytochrome P450 4B1 gene DOID:630 genetic disease ISO RGD:736540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052842 Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 gene DOID:0080054 achondrogenesis type IA ISO RGD:1350721 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 9052842 Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 gene DOID:630 genetic disease ISO RGD:1350721 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052859 Slc9b1 solute carrier family 9 member B1 gene DOID:0060224 atrial fibrillation ISO RGD:1605279 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 9052859 Slc9b1 solute carrier family 9 member B1 gene DOID:0110630 Wolfram syndrome 2 ISO RGD:1605279 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 2 PMID:10739754|PMID:17846994|PMID:25056293|PMID:25741868|PMID:28492532 9052859 Slc9b1 solute carrier family 9 member B1 gene DOID:3633 beta-mannosidosis ISO RGD:1605279 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:12468273|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30455226|PMID:30951195|PMID:9384606 9052859 Slc9b1 solute carrier family 9 member B1 gene DOID:630 genetic disease ISO RGD:1605279 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9052895 Inhba inhibin subunit beta A gene DOID:0050827 rheumatic heart disease ISO RGD:62074 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 9052895 Inhba inhibin subunit beta A gene DOID:10591 pre-eclampsia ISO RGD:732688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17332518 9052895 Inhba inhibin subunit beta A gene DOID:11714 gestational diabetes ISO RGD:732688 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:14663836|REF_RGD_ID:2313391 9052895 Inhba inhibin subunit beta A gene DOID:11714 gestational diabetes ISO RGD:732688 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:7852520|REF_RGD_ID:2313385 9052895 Inhba inhibin subunit beta A gene DOID:127 leiomyoma ISO RGD:732688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 9052895 Inhba inhibin subunit beta A gene DOID:13276 Mycoplasma pneumoniae pneumonia severity ISO RGD:732688 D RGD:9068941 20200626 RGD PMID:28302172|REF_RGD_ID:32716376 9052895 Inhba inhibin subunit beta A gene DOID:14761 Greig cephalopolysyndactyly syndrome ISO RGD:732688 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:10441570|PMID:15739154|PMID:18000979|PMID:20672375|PMID:24736735|PMID:28492532|PMID:29236091 9052895 Inhba inhibin subunit beta A gene DOID:3525 middle cerebral artery infarction ISO RGD:62366 D RGD:9068941 20230525 RGD PMID:33345977|REF_RGD_ID:329845521 9052895 Inhba inhibin subunit beta A gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732688 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9052895 Inhba inhibin subunit beta A gene DOID:5844 myocardial infarction ISO RGD:62074 D RGD:9068941 20230427 RGD mRNA:increased expression:heart (rat) PMID:14993131|REF_RGD_ID:1580888 9052895 Inhba inhibin subunit beta A gene DOID:5844 myocardial infarction ISO RGD:62366 D RGD:9068941 20230615 RGD mRNA:increased expression:myocardium (mouse) PMID:32427381|REF_RGD_ID:329849118 9052895 Inhba inhibin subunit beta A gene DOID:6000 congestive heart failure ISO RGD:62074 D RGD:9068941 20230610 RGD protein:increased expression:heart (rat) PMID:22884154|REF_RGD_ID:329849007 9052895 Inhba inhibin subunit beta A gene DOID:6000 congestive heart failure severity ISO RGD:732688 D RGD:9068941 20230427 RGD mRNA, protein:increased expression:PBMC, Tcells, serum (human) PMID:14993131|REF_RGD_ID:1580888 9052895 Inhba inhibin subunit beta A gene DOID:630 genetic disease ISO RGD:732688 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052895 Inhba inhibin subunit beta A gene DOID:8466 retinal degeneration ISO RGD:62074 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 9052895 Inhba inhibin subunit beta A gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:62074 D RGD:9068941 20230427 RGD mRNA:increased expression:brain (rat) PMID:10415398|REF_RGD_ID:329322882 9052895 Inhba inhibin subunit beta A gene DOID:9003676 Brain Hypoxia-Ischemia severity ISO RGD:732688 D RGD:9068941 20230615 RGD mRNA, protein:increased expression:umbilical cord blood (human) PMID:27957679|REF_RGD_ID:329849106 9052895 Inhba inhibin subunit beta A gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:732688 D RGD:9068941 20230427 RGD human construct in rat model PMID:10415398|REF_RGD_ID:329322882 9052895 Inhba inhibin subunit beta A gene DOID:9004265 Endometrioid Carcinomas ISO RGD:732688 D RGD:9068941 20200609 RGD protein:decreased expression:endometrium PMID:16423381|REF_RGD_ID:2301688 9052895 Inhba inhibin subunit beta A gene DOID:9004268 Uterine Neoplasms ISO RGD:732688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228119 9052895 Inhba inhibin subunit beta A gene DOID:9004590 Acute Liver Failure ISO RGD:732688 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12560755 9052895 Inhba inhibin subunit beta A gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:62074 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 9052895 Inhba inhibin subunit beta A gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:62366 D RGD:9068941 20230615 RGD mRNA, protein:increased expression:heart (mouse) PMID:30765322|REF_RGD_ID:329849112 9052905 E2f3 E2F transcription factor 3 gene DOID:10283 prostate cancer ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:17701752|PMID:25017995|REF_RGD_ID:13504717|REF_RGD_ID:13504729 9052905 E2f3 E2F transcription factor 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:15184867|REF_RGD_ID:13504730 9052905 E2f3 E2F transcription factor 3 gene DOID:3070 high grade glioma disease_progression ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:28337965|REF_RGD_ID:13702470 9052905 E2f3 E2F transcription factor 3 gene DOID:3907 lung squamous cell carcinoma ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:16938365|REF_RGD_ID:13464341 9052905 E2f3 E2F transcription factor 3 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1320122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29754146 9052905 E2f3 E2F transcription factor 3 gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1320122 D RGD:9068941 20200609 RGD DNA:SNP: :rs3806116 (human) PMID:27557513|REF_RGD_ID:13464345 9052905 E2f3 E2F transcription factor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:1320122 D RGD:9068941 20200609 RGD PMID:16938365|REF_RGD_ID:13464341 9052905 E2f3 E2F transcription factor 3 gene DOID:630 genetic disease ISO RGD:1320122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052930 Ripply2 ripply transcriptional repressor 2 gene DOID:0050568 spondylocostal dysostosis ISO RGD:1318698 D RGD:9068941 20220825 MouseDO OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 9052930 Ripply2 ripply transcriptional repressor 2 gene DOID:0080590 Klippel-Feil syndrome 2 ISO RGD:1604749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive PMID:25343988|PMID:26238661 9052930 Ripply2 ripply transcriptional repressor 2 gene DOID:0112360 spondylocostal dysostosis 6 ISO RGD:1604749 D RGD:7240710 20180130 OMIM 9052930 Ripply2 ripply transcriptional repressor 2 gene DOID:0112360 spondylocostal dysostosis 6 ISO RGD:1604749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 6, autosomal recessive PMID:25343988|PMID:25741868|PMID:28492532 9052930 Ripply2 ripply transcriptional repressor 2 gene DOID:0112362 spondylocostal dysostosis 2 ISO RGD:1604749 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive PMID:25343988|PMID:25741868|PMID:28492532 9052930 Ripply2 ripply transcriptional repressor 2 gene DOID:0112363 spondylocostal dysostosis 5 ISO RGD:1604749 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spondylothoracic Dysostosis PMID:25343988|PMID:25741868|PMID:28492532 9052930 Ripply2 ripply transcriptional repressor 2 gene DOID:0112365 spondylocostal dysostosis 1 ISO RGD:1604749 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Spondylothoracic Dysostosis PMID:25343988|PMID:25741868|PMID:28492532 9052930 Ripply2 ripply transcriptional repressor 2 gene DOID:630 genetic disease ISO RGD:1604749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9052930 Ripply2 ripply transcriptional repressor 2 gene DOID:9006006 Spondylocostal Dysostosis, Autosomal Recessive ISO RGD:1604749 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9052938 Umodl1 uromodulin like 1 gene DOID:0080465 developmental and epileptic encephalopathy 30 ISO RGD:1351162 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:28492532|PMID:8596935 9052938 Umodl1 uromodulin like 1 gene DOID:0110266 cataract 9 multiple types ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 9 multiple types PMID:28492532 9052938 Umodl1 uromodulin like 1 gene DOID:10283 prostate cancer ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 9052938 Umodl1 uromodulin like 1 gene DOID:630 genetic disease ISO RGD:1351162 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052938 Umodl1 uromodulin like 1 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1351162 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532|PMID:8596935 9052938 Umodl1 uromodulin like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9052938 Umodl1 uromodulin like 1 gene DOID:9263 homocystinuria ISO RGD:1351162 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:28492532 9052938 Umodl1 uromodulin like 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351162 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9052965 Slc2a6 solute carrier family 2 member 6 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 9052965 Slc2a6 solute carrier family 2 member 6 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9052965 Slc2a6 solute carrier family 2 member 6 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9052965 Slc2a6 solute carrier family 2 member 6 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 9052965 Slc2a6 solute carrier family 2 member 6 gene DOID:0081097 Rafiq syndrome ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 9052965 Slc2a6 solute carrier family 2 member 6 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319599 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 9052965 Slc2a6 solute carrier family 2 member 6 gene DOID:3652 Leigh disease ISO RGD:1319599 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9052965 Slc2a6 solute carrier family 2 member 6 gene DOID:630 genetic disease ISO RGD:1319599 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9052982 Mast3 microtubule associated serine/threonine kinase 3 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316095 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868|PMID:34185323 9052982 Mast3 microtubule associated serine/threonine kinase 3 gene DOID:0070394 developmental and epileptic encephalopathy 108 ISO RGD:1316095 D RGD:7240710 20221123 OMIM 9052982 Mast3 microtubule associated serine/threonine kinase 3 gene DOID:0070394 developmental and epileptic encephalopathy 108 ISO RGD:1316095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 108 PMID:25741868|PMID:34185323|PMID:35095415 9052982 Mast3 microtubule associated serine/threonine kinase 3 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316095 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:34185323 9052982 Mast3 microtubule associated serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:1316095 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:34185323 9052982 Mast3 microtubule associated serine/threonine kinase 3 gene DOID:9009086 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 ISO RGD:1316095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PMID:28492532 9053022 Anxa7 annexin A7 gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:lymph node PMID:17708571|REF_RGD_ID:2292654 9053022 Anxa7 annexin A7 gene DOID:10283 prostate cancer ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:prostate gland PMID:17708571|REF_RGD_ID:2292654 9053022 Anxa7 annexin A7 gene DOID:1612 breast cancer disease_progression ISO RGD:731625 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15073110|REF_RGD_ID:2292655 9053022 Anxa7 annexin A7 gene DOID:234 colon adenocarcinoma ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:colon PMID:17708571|REF_RGD_ID:2292654 9053022 Anxa7 annexin A7 gene DOID:2394 ovarian cancer ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:ovary PMID:17708571|REF_RGD_ID:2292654 9053022 Anxa7 annexin A7 gene DOID:4159 skin cancer ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:17708571|REF_RGD_ID:2292654 9053022 Anxa7 annexin A7 gene DOID:630 genetic disease ISO RGD:731625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053022 Anxa7 annexin A7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731625 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;protein:increased expression:breast PMID:15073110|REF_RGD_ID:2292655 9053022 Anxa7 annexin A7 gene DOID:9000965 Neoplasm Metastasis ISO RGD:731625 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:decreased expression:prostate gland PMID:11287641|REF_RGD_ID:2292656 9053022 Anxa7 annexin A7 gene DOID:9003216 Salivary Gland Neoplasms ISO RGD:731625 D RGD:9068941 20200609 RGD protein:decreased expression:salivary gland PMID:17708571|REF_RGD_ID:2292654 9053022 Anxa7 annexin A7 gene DOID:9007188 Liver Neoplasms ISO RGD:731625 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25058030 9053040 LOC102018844 neutrophil elastase gene DOID:0050073 invasive aspergillosis ISO RGD:1624045 D RGD:9068941 20230420 RGD PMID:24054721|REF_RGD_ID:10450528 9053040 LOC102018844 neutrophil elastase gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:9068941 20230420 RGD PMID:10581030|REF_RGD_ID:1598891 9053040 LOC102018844 neutrophil elastase gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:9068941 20230420 RGD DNA:mutation:intron:c.597+1G>A (human) PMID:24616599|REF_RGD_ID:10450514 9053040 LOC102018844 neutrophil elastase gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:9068941 20230420 RGD DNA:mutations: : PMID:21425445|REF_RGD_ID:10450519 9053040 LOC102018844 neutrophil elastase gene DOID:0050590 severe congenital neutropenia ISO RGD:1317469 D RGD:9068941 20230420 RGD mRNA:decreased expression:myeloid CD33+ cell: PMID:19620402|REF_RGD_ID:10450525 9053040 LOC102018844 neutrophil elastase gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1317469 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:28492532 9053040 LOC102018844 neutrophil elastase gene DOID:0080178 mucositis ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:9823937|REF_RGD_ID:10450554 9053040 LOC102018844 neutrophil elastase gene DOID:0080600 COVID-19 ISO RGD:1317469 D RGD:9068941 20230420 RGD protein:increased expression:plasma (human) PMID:32696007|REF_RGD_ID:38501088 9053040 LOC102018844 neutrophil elastase gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1317469 D RGD:7240710 20230505 OMIM 9053040 LOC102018844 neutrophil elastase gene DOID:0080625 severe congenital neutropenia 1 ISO RGD:1317469 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ELANE-related condition | ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant PMID:10581030|PMID:11001877|PMID:11278653|PMID:11675333|PMID:14962902|PMID:15657182|PMID:16079102|PMID:16551967|PMID:16737875|PMID:17053055|PMID:17391497|PMID:17576681|PMID:18028488|PMID:18611981|PMID:19036076|PMID:20049848|PMID:20301705|PMID:20582973|PMID:21425445|PMID:22148006|PMID:22510773|PMID:22758217|PMID:23463630|PMID:24523240|PMID:24616599|PMID:25427142|PMID:25703294|PMID:25741868|PMID:26567890|PMID:28073911|PMID:28492532|PMID:30040071|PMID:30273710|PMID:30386760|PMID:30635825|PMID:31248972|PMID:31321910|PMID:31839986|PMID:3229910|PMID:32581362|PMID:32888943|PMID:33318085|PMID:33942430|PMID:34093558|PMID:34340247|PMID:34573280|PMID:9536098 9053040 LOC102018844 neutrophil elastase gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1317469 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:24033266 9053040 LOC102018844 neutrophil elastase gene DOID:10247 pleurisy ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:20860667|REF_RGD_ID:10450565 9053040 LOC102018844 neutrophil elastase gene DOID:11247 disseminated intravascular coagulation ISO RGD:1317469 D RGD:9068941 20230420 RGD associated with Multiple Organ Failure, Craniocerebral Trauma;protein:increased expression:plasma: PMID:10912863|REF_RGD_ID:10450545 9053040 LOC102018844 neutrophil elastase gene DOID:11247 disseminated intravascular coagulation ISO RGD:1317469 D RGD:9068941 20230420 RGD protein:increased expression:plasma: PMID:20655560|REF_RGD_ID:10450544 9053040 LOC102018844 neutrophil elastase gene DOID:1227 neutropenia ISO RGD:1317469 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:10581030|PMID:17576681|PMID:20049848|PMID:23463630|PMID:25741868|PMID:28492532|PMID:30040071|PMID:32581362|PMID:9536098 9053040 LOC102018844 neutrophil elastase gene DOID:14115 toxic shock syndrome treatment ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:18323746|REF_RGD_ID:10450579 9053040 LOC102018844 neutrophil elastase gene DOID:2224 essential thrombocythemia ISO RGD:1317469 D RGD:9068941 20230420 RGD protein:increased expression:plasma: PMID:18768782|REF_RGD_ID:10450556 9053040 LOC102018844 neutrophil elastase gene DOID:224 transient cerebral ischemia treatment ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:19168036|REF_RGD_ID:10450558 9053040 LOC102018844 neutrophil elastase gene DOID:2562 suppurative periapical periodontitis ISO RGD:1307968 D RGD:9068941 20230420 RGD protein:increased expression:neutrophil: PMID:19913217|REF_RGD_ID:10450566 9053040 LOC102018844 neutrophil elastase gene DOID:2921 glomerulonephritis ISO RGD:1624045 D RGD:9068941 20230420 RGD PMID:19752320|REF_RGD_ID:6907051 9053040 LOC102018844 neutrophil elastase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1317469 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25427142|PMID:25703294|PMID:25741868|PMID:27854218|PMID:28492532 9053040 LOC102018844 neutrophil elastase gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1317469 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25427142|PMID:25703294|PMID:25741868|PMID:28492532|PMID:35047849 9053040 LOC102018844 neutrophil elastase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:10700596|REF_RGD_ID:10450546 9053040 LOC102018844 neutrophil elastase gene DOID:3770 pulmonary fibrosis ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:19995276|REF_RGD_ID:10450562 9053040 LOC102018844 neutrophil elastase gene DOID:3852 Peutz-Jeghers syndrome ISO RGD:1317469 D RGD:8554872 20230425 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:14970844|PMID:15188174|PMID:16287113|PMID:16648371|PMID:17924967|PMID:20623358|PMID:21118512|PMID:22382802|PMID:23399955|PMID:27550049|PMID:28303455|PMID:28492532 9053040 LOC102018844 neutrophil elastase gene DOID:5339 cyclic hematopoiesis ISO RGD:1317469 D RGD:7240710 20230505 OMIM 9053040 LOC102018844 neutrophil elastase gene DOID:5339 cyclic hematopoiesis ISO RGD:1317469 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:10581030|PMID:11001877|PMID:11675333|PMID:14962902|PMID:15657182|PMID:16079102|PMID:16199547|PMID:16551967|PMID:16737875|PMID:16986121|PMID:17053055|PMID:17391497|PMID:17436313|PMID:17576681|PMID:18028488|PMID:18611981|PMID:18703682|PMID:19036076|PMID:19415009|PMID:19775295|PMID:20049848|PMID:20582973|PMID:20803142|PMID:21425445|PMID:21618407|PMID:22148006|PMID:22510773|PMID:22624626|PMID:22758217|PMID:23382209|PMID:23463630|PMID:24184683|PMID:24523240|PMID:24616599|PMID:25162927|PMID:25427142|PMID:25703294|PMID:25705433|PMID:25741868|PMID:25912133|PMID:26567890|PMID:28073911|PMID:28492532|PMID:29076228|PMID:29517659|PMID:30040071|PMID:30171085|PMID:30273710|PMID:30386760|PMID:30635825|PMID:31009763|PMID:31176364|PMID:31248972|PMID:31321910|PMID:31574885|PMID:31965297|PMID:3229910|PMID:32581362|PMID:32888943|PMID:33179225|PMID:33225392|PMID:33513358|PMID:34093558|PMID:34340247|PMID:34573280|PMID:35047849|PMID:36734404|PMID:9536098 9053040 LOC102018844 neutrophil elastase gene DOID:630 genetic disease ISO RGD:1317469 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9053040 LOC102018844 neutrophil elastase gene DOID:7427 anthrax disease ISO RGD:1624045 D RGD:9068941 20230420 RGD protein:increased expression:plasma: PMID:19049643|REF_RGD_ID:10450550 9053040 LOC102018844 neutrophil elastase gene DOID:824 periodontitis susceptibility ISO RGD:1317469 D RGD:9068941 20230420 RGD associated with Severe Congenital Neutropenia;DNA:mutations: : PMID:21796505|REF_RGD_ID:10450515 9053040 LOC102018844 neutrophil elastase gene DOID:8997 polycythemia vera ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:12186827|REF_RGD_ID:10450557 9053040 LOC102018844 neutrophil elastase gene DOID:8997 polycythemia vera ISO RGD:1317469 D RGD:9068941 20230420 RGD protein:increased expression:plasma: PMID:18768782|REF_RGD_ID:10450556 9053040 LOC102018844 neutrophil elastase gene DOID:9000197 Edema treatment ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:20860667|REF_RGD_ID:10450565 9053040 LOC102018844 neutrophil elastase gene DOID:9000945 Ventilator-Induced Lung Injury ISO RGD:1624045 D RGD:9068941 20230420 RGD PMID:18276796|REF_RGD_ID:10450549 9053040 LOC102018844 neutrophil elastase gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:9675307|REF_RGD_ID:10450552 9053040 LOC102018844 neutrophil elastase gene DOID:9002159 Liver Reperfusion Injury ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:10588515|REF_RGD_ID:10450560 9053040 LOC102018844 neutrophil elastase gene DOID:9003202 Pulmonary Hemorrhage ISO RGD:1307968 D RGD:9068941 20230420 RGD associated with Pancreatitis, Experimental, sepsis; PMID:7587785|REF_RGD_ID:10450559 9053040 LOC102018844 neutrophil elastase gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:11104832|REF_RGD_ID:10450581 9053040 LOC102018844 neutrophil elastase gene DOID:9004347 Skeletal Muscle Reperfusion Injury ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:7858993|REF_RGD_ID:10450555 9053040 LOC102018844 neutrophil elastase gene DOID:9004484 Sepsis ISO RGD:1624045 D RGD:9068941 20230420 RGD associated with Klebsiella Infections; PMID:9585238|REF_RGD_ID:10450543 9053040 LOC102018844 neutrophil elastase gene DOID:9004610 Acute Lung Injury ISO RGD:1307968 D RGD:9068941 20230420 RGD protein:increased expression:perfusate: PMID:18283562|REF_RGD_ID:10450585 9053040 LOC102018844 neutrophil elastase gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:15257085|REF_RGD_ID:10450548 9053040 LOC102018844 neutrophil elastase gene DOID:9004610 Acute Lung Injury treatment ISO RGD:1307968 D RGD:9068941 20230420 RGD associated with Shock, Hemorrhagic; PMID:17203197|REF_RGD_ID:10450587 9053040 LOC102018844 neutrophil elastase gene DOID:9005932 Urinary Bladder Reperfusion Injury treatment ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:18165924|REF_RGD_ID:10450583 9053040 LOC102018844 neutrophil elastase gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:16980042|REF_RGD_ID:10450580 9053040 LOC102018844 neutrophil elastase gene DOID:9006263 Experimental Pancreatitis treatment ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:18486906|REF_RGD_ID:10450567 9053040 LOC102018844 neutrophil elastase gene DOID:9006827 Lung Reperfusion Injury treatment ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:17888675|REF_RGD_ID:10450582 9053040 LOC102018844 neutrophil elastase gene DOID:9675 pulmonary emphysema ISO RGD:1307968 D RGD:9068941 20230420 RGD PMID:12186827|REF_RGD_ID:10450557 9053072 Hs3st2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:1324 lung cancer ISO RGD:1346040 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12527896|REF_RGD_ID:2317633 9053072 Hs3st2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:1793 pancreatic cancer ISO RGD:1346040 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12527896|REF_RGD_ID:2317633 9053072 Hs3st2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:219 colon cancer ISO RGD:1346040 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:12527896|REF_RGD_ID:2317633 9053072 Hs3st2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1346040 D RGD:9068941 20220708 RGD DNA:hypermethylation PMID:27777637|REF_RGD_ID:152998954 9053072 Hs3st2 heparan sulfate-glucosamine 3-sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1346040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053088 Myo1c myosin IC gene DOID:0060224 atrial fibrillation ISO RGD:737188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 9053088 Myo1c myosin IC gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:737188 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459 9053088 Myo1c myosin IC gene DOID:630 genetic disease ISO RGD:737188 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053088 Myo1c myosin IC gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:737188 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9053137 Ppp2r5b protein phosphatase 2 regulatory subunit B'beta gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1353441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9053137 Ppp2r5b protein phosphatase 2 regulatory subunit B'beta gene DOID:1059 intellectual disability ISO RGD:1353441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9053137 Ppp2r5b protein phosphatase 2 regulatory subunit B'beta gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1353441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9053137 Ppp2r5b protein phosphatase 2 regulatory subunit B'beta gene DOID:2746 glycogen storage disease V ISO RGD:1353441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:12118255|PMID:16786513|PMID:21520335|PMID:27032803|PMID:28492532|PMID:8316268 9053137 Ppp2r5b protein phosphatase 2 regulatory subunit B'beta gene DOID:3070 high grade glioma ISO RGD:1353441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ependymoma 9053137 Ppp2r5b protein phosphatase 2 regulatory subunit B'beta gene DOID:630 genetic disease ISO RGD:1353441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9053164 Lrrc57 leucine rich repeat containing 57 gene DOID:2717 Bloom syndrome ISO RGD:1602825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9053164 Lrrc57 leucine rich repeat containing 57 gene DOID:630 genetic disease ISO RGD:1602825 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053164 Lrrc57 leucine rich repeat containing 57 gene DOID:9256 colorectal cancer ISO RGD:1602825 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0060041 autism spectrum disorder ISO RGD:1344111 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders PMID:23422940|PMID:23587880|PMID:25741868|PMID:28492532|PMID:30763456 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0060224 atrial fibrillation ISO RGD:1344111 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:1623858 D RGD:9068941 20220825 MouseDO 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1344111 D RGD:7240710 20180130 OMIM 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0070031 autosomal dominant intellectual developmental disorder 1 ISO RGD:1344111 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder | ClinVar Annotator: match by term: MBD5-related condition PMID:16199547|PMID:17576681|PMID:17847001|PMID:19809484|PMID:19904302|PMID:21981781|PMID:22726846|PMID:23055267|PMID:23422940|PMID:23587880|PMID:23632792|PMID:24885232|PMID:25326635|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27222293|PMID:28008202|PMID:28074849|PMID:28454995|PMID:28492532|PMID:29655203|PMID:31820818|PMID:32193494|PMID:32238909|PMID:33427406|PMID:33912662|PMID:9536098 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:0080444 developmental and epileptic encephalopathy 27 ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: developmental delay with intractable seizures PMID:26467025|PMID:28492532 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:1059 intellectual disability ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:30763456 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:10907 microcephaly ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:12849 autistic disorder ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior PMID:21681106|PMID:30208311 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:1826 epilepsy ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:5419 schizophrenia ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:630 genetic disease ISO RGD:1344111 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17847001|PMID:21981781|PMID:23055267|PMID:23422940|PMID:23587880|PMID:25741868|PMID:26467025|PMID:27222293|PMID:28008202|PMID:28492532|PMID:30763456|PMID:33912662 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868|PMID:28492532 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344111 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:9005603 Muscle Hypotonia ISO RGD:1344111 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypotonia PMID:25741868 9053180 Mbd5 methyl-CpG binding domain protein 5 gene DOID:9006425 Episodic Ataxia Type 9 ISO RGD:1344111 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:28492532 9053215 Nrdc nardilysin convertase gene DOID:630 genetic disease ISO RGD:731928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053275 Pcif1 phosphorylated CTD interacting factor 1 gene DOID:2234 focal epilepsy ISO RGD:1321911 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9053275 Pcif1 phosphorylated CTD interacting factor 1 gene DOID:630 genetic disease ISO RGD:1321911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053275 Pcif1 phosphorylated CTD interacting factor 1 gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1321911 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 9053299 Aatf apoptosis antagonizing transcription factor gene DOID:0060041 autism spectrum disorder ISO RGD:734398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:25741868|PMID:27569545 9053299 Aatf apoptosis antagonizing transcription factor gene DOID:0060404 chromosome 17q12 deletion syndrome ISO RGD:734398 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome PMID:17924346|PMID:21055719|PMID:24088041|PMID:26633545 9053299 Aatf apoptosis antagonizing transcription factor gene DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 ISO RGD:734398 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 PMID:12148114|PMID:15068978|PMID:20378641|PMID:20633866|PMID:21540130|PMID:22912587|PMID:24905847|PMID:26123568|PMID:28492532|PMID:31604004|PMID:9398836 9053299 Aatf apoptosis antagonizing transcription factor gene DOID:12849 autistic disorder ISO RGD:734398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9053299 Aatf apoptosis antagonizing transcription factor gene DOID:5419 schizophrenia ISO RGD:734398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9053299 Aatf apoptosis antagonizing transcription factor gene DOID:630 genetic disease ISO RGD:734398 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053299 Aatf apoptosis antagonizing transcription factor gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734398 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9053322 Trim41 tripartite motif containing 41 gene DOID:630 genetic disease ISO RGD:1318911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053332 Pde6h phosphodiesterase 6H gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1353241 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 9053332 Pde6h phosphodiesterase 6H gene DOID:0080314 cone-rod dystrophy 14 ISO RGD:1353241 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 9053332 Pde6h phosphodiesterase 6H gene DOID:0081025 retinal cone dystrophy 3A ISO RGD:1353241 D RGD:7240710 20180130 OMIM 9053332 Pde6h phosphodiesterase 6H gene DOID:0081025 retinal cone dystrophy 3A ISO RGD:1353241 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 3A PMID:15629837|PMID:22901948|PMID:25741868|PMID:27472364|PMID:28492532 9053332 Pde6h phosphodiesterase 6H gene DOID:13399 color blindness ISO RGD:1353241 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25739440 9053332 Pde6h phosphodiesterase 6H gene DOID:630 genetic disease ISO RGD:1353241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9053340 Fbxo38 F-box protein 38 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1322999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9053340 Fbxo38 F-box protein 38 gene DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 ISO RGD:1322999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 PMID:16199547|PMID:17576681|PMID:24207122|PMID:25741868|PMID:28166811|PMID:28492532|PMID:31420593|PMID:32579787|PMID:7723957|PMID:9536098 9053340 Fbxo38 F-box protein 38 gene DOID:0111210 autosomal dominant distal hereditary motor neuronopathy 6 ISO RGD:1322999 D RGD:7240710 20180130 OMIM 9053340 Fbxo38 F-box protein 38 gene DOID:0111210 autosomal dominant distal hereditary motor neuronopathy 6 ISO RGD:1322999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FBXO38-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D PMID:24207122|PMID:25741868|PMID:28492532|PMID:31420593|PMID:32579787|PMID:7723957 9053340 Fbxo38 F-box protein 38 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322999 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 9053340 Fbxo38 F-box protein 38 gene DOID:12377 spinal muscular atrophy ISO RGD:1322999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:28492532 9053340 Fbxo38 F-box protein 38 gene DOID:630 genetic disease ISO RGD:1322999 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098 9053340 Fbxo38 F-box protein 38 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322999 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9053340 Fbxo38 F-box protein 38 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1322999 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9053379 Cops2 COP9 signalosome subunit 2 gene DOID:2717 Bloom syndrome ISO RGD:1353959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9053379 Cops2 COP9 signalosome subunit 2 gene DOID:289 endometriosis ISO RGD:1353959 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 9053379 Cops2 COP9 signalosome subunit 2 gene DOID:630 genetic disease ISO RGD:1353959 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053379 Cops2 COP9 signalosome subunit 2 gene DOID:9256 colorectal cancer ISO RGD:1353959 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:68986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17218722 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:0060041 autism spectrum disorder ISO RGD:68986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20546835 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:10762 portal hypertension ISO RGD:68986 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;mRNA:increased expression:liver, artery PMID:12641544|REF_RGD_ID:2300334 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:10763 hypertension ISO RGD:2185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney, arteriole PMID:15657301|REF_RGD_ID:2300322 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:10763 hypertension ISO RGD:2185 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:paraventricular hypothalamic nucleus PMID:15475662|REF_RGD_ID:2300330 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:10763 hypertension ISO RGD:68986 D RGD:9068941 20200609 RGD DNA:SNP PMID:17653244|REF_RGD_ID:2300319 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:12849 autistic disorder ISO RGD:68986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16520824 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:1591 renovascular hypertension ISO RGD:2185 D RGD:9068941 20200609 RGD mRNA:altered expression:brain PMID:15613739|REF_RGD_ID:2300323 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:3021 acute kidney failure ISO RGD:2185 D RGD:9068941 20200609 RGD PMID:17347933|REF_RGD_ID:2300348 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:4724 brain edema ISO RGD:2185 D RGD:9068941 20200609 RGD associated with Reperfusion Injury PMID:16671476|REF_RGD_ID:2300375 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:5419 schizophrenia ISO RGD:68987 D RGD:9068941 20220825 MouseDO OMIM:181500 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:5844 myocardial infarction ISO RGD:2185 D RGD:9068941 20200609 RGD PMID:16423716|REF_RGD_ID:2300376 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:630 genetic disease ISO RGD:68986 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:9000998 Brain Injuries ISO RGD:2185 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:17244947|REF_RGD_ID:2300372 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:9003936 Cardiomegaly ISO RGD:2185 D RGD:9068941 20200609 RGD associated with Heart Failure, Congestive PMID:18467593|REF_RGD_ID:2300338 9053400 Avpr1a arginine vasopressin receptor 1A gene DOID:9008217 Hemorrhage ISO RGD:2185 D RGD:9068941 20200609 RGD associated with Hypertension, Portal PMID:14647048|REF_RGD_ID:2300333 9053433 Mettl6 methyltransferase 6, tRNA N3-cytidine gene DOID:0060417 3p deletion syndrome ISO RGD:1605295 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: 3p- syndrome PMID:31690835 9053433 Mettl6 methyltransferase 6, tRNA N3-cytidine gene DOID:630 genetic disease ISO RGD:1605295 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053433 Mettl6 methyltransferase 6, tRNA N3-cytidine gene DOID:9008939 Breast Neoplasms ISO RGD:1605295 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151356 9053446 Znf330 zinc finger protein 330 gene DOID:630 genetic disease ISO RGD:1316746 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053466 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9053466 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:0080716 infantile liver failure syndrome ISO RGD:1322577 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:19732863|REF_RGD_ID:25440486 9053466 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:0080778 transient infantile liver failure ISO RGD:1322577 D RGD:7240710 20180130 OMIM 9053466 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:0080778 transient infantile liver failure ISO RGD:1322577 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition PMID:16199547|PMID:17576681|PMID:19732863|PMID:21153446|PMID:21169334|PMID:21931168|PMID:23625533|PMID:25326635|PMID:25326637|PMID:25665837|PMID:25741868|PMID:26633542|PMID:28049726|PMID:28252636|PMID:28492532|PMID:28973083|PMID:30369941|PMID:30740308|PMID:31160058|PMID:33365252|PMID:33485800|PMID:36305855|PMID:8817331|PMID:9536098 9053466 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:0111734 aminoglycoside-induced deafness ISO RGD:1322577 D RGD:7240710 20180130 OMIM 9053466 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:0111734 aminoglycoside-induced deafness ISO RGD:1322577 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of PMID:16199547|PMID:17576681|PMID:19732863|PMID:21153446|PMID:21169334|PMID:21931168|PMID:23625533|PMID:25665837|PMID:25741868|PMID:26633542|PMID:28049726|PMID:28252636|PMID:28492532|PMID:28973083|PMID:30369941|PMID:30740308|PMID:31160058|PMID:33365252|PMID:33485800|PMID:36305855|PMID:8817331|PMID:9536098 9053466 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:1059 intellectual disability ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9053466 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:2843 long QT syndrome ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 9053466 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:409 liver disease ISO RGD:1619985 D RGD:9068941 20220825 MouseDO 9053466 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:630 genetic disease ISO RGD:1322577 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19732863|PMID:21931168|PMID:23625533|PMID:25326635|PMID:25665837|PMID:25741868|PMID:28492532|PMID:28973083|PMID:31160058 9053466 Trmu tRNA mitochondrial 2-thiouridylase gene DOID:9004212 Mitochondrial Myopathy, Lethal Infantile ISO RGD:1322577 D RGD:9068941 20200609 RGD DNA:mutations:multiple PMID:23625533|REF_RGD_ID:21066346 9053487 Wars2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:0050722 PHGDH deficiency ISO RGD:1318471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PHGDH deficiency PMID:14645240|PMID:24836451|PMID:28492532 9053487 Wars2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:2736 Hajdu-Cheney syndrome ISO RGD:1318471 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 9053487 Wars2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1318471 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28236339|PMID:28492532|PMID:28554332|PMID:28650581|PMID:28905505|PMID:29120065|PMID:29783990|PMID:30831263|PMID:30920170|PMID:31282308|PMID:31970218|PMID:32120303|PMID:33619735|PMID:33972171|PMID:34890876|PMID:35074316|PMID:9536098 9053487 Wars2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:9001163 Parkinsonism-Dystonia, Childhood-Onset, 3 ISO RGD:1318471 D RGD:7240710 20220223 OMIM 9053487 Wars2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:9001163 Parkinsonism-Dystonia, Childhood-Onset, 3 ISO RGD:1318471 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia 3, childhood-onset | ClinVar Annotator: match by term: WARS2-related condition PMID:25741868|PMID:28236339|PMID:28492532|PMID:28905505|PMID:29120065|PMID:30831263|PMID:31970218|PMID:32120303|PMID:33619735|PMID:34890876 9053487 Wars2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:9002540 Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures ISO RGD:1318471 D RGD:7240710 20190315 OMIM 9053487 Wars2 tryptophanyl tRNA synthetase 2, mitochondrial gene DOID:9002540 Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures ISO RGD:1318471 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures PMID:17576681|PMID:25741868|PMID:28236339|PMID:28492532|PMID:28650581|PMID:28905505|PMID:29120065|PMID:29783990|PMID:30831263|PMID:30920170|PMID:31282308|PMID:31970218|PMID:32120303|PMID:33619735|PMID:34890876|PMID:35074316|PMID:9536098 9053504 LOC102014331 cytochrome c oxidase assembly protein COX19 gene DOID:630 genetic disease ISO RGD:1604553 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053511 Pacsin2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:1059 intellectual disability ISO RGD:69456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9053511 Pacsin2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:2661 myoepithelioma ISO RGD:69456 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9053511 Pacsin2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:630 genetic disease ISO RGD:69456 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053511 Pacsin2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:69456 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9053511 Pacsin2 protein kinase C and casein kinase substrate in neurons 2 gene DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities ISO RGD:69456 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities PMID:30819258|PMID:31690835 9053529 Slc25a30 solute carrier family 25 member 30 gene DOID:630 genetic disease ISO RGD:1606937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053529 Slc25a30 solute carrier family 25 member 30 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606937 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9053557 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9053557 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9053557 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:2302530 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9053557 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9053557 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:5812 MHC class II deficiency ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9053557 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:630 genetic disease ISO RGD:2302530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053557 Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:2302530 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9053584 Upf2 UPF2 regulator of nonsense mediated mRNA decay gene DOID:0060041 autism spectrum disorder ISO RGD:1319373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9053584 Upf2 UPF2 regulator of nonsense mediated mRNA decay gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1319373 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9053584 Upf2 UPF2 regulator of nonsense mediated mRNA decay gene DOID:630 genetic disease ISO RGD:1319373 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053635 Med24 mediator complex subunit 24 gene DOID:0110328 hypertrophic cardiomyopathy 25 ISO RGD:1348876 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:28492532 9053635 Med24 mediator complex subunit 24 gene DOID:630 genetic disease ISO RGD:1348876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053635 Med24 mediator complex subunit 24 gene DOID:9007661 Dwarfism ISO RGD:1348876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 9053667 Plppr5 phospholipid phosphatase related 5 gene DOID:630 genetic disease ISO RGD:1604517 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053678 Ksr2 kinase suppressor of ras 2 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1351357 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24209692|PMID:25741868 9053678 Ksr2 kinase suppressor of ras 2 gene DOID:11981 morbid obesity ISO RGD:1351357 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29273807 9053678 Ksr2 kinase suppressor of ras 2 gene DOID:630 genetic disease ISO RGD:1351357 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9053678 Ksr2 kinase suppressor of ras 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1351357 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24209692|PMID:25741868 9053708 Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma gene DOID:0081206 autosomal recessive intellectual developmental disorder 41 ISO RGD:1319620 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome PMID:25741868 9053708 Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 9053708 Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma gene DOID:10283 prostate cancer ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9053708 Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma gene DOID:1059 intellectual disability ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9053708 Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma gene DOID:3969 thyroid gland papillary carcinoma ISO RGD:1319620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28030816 9053708 Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma gene DOID:630 genetic disease ISO RGD:1319620 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053708 Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1319620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16038780 9053708 Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma gene DOID:9003882 Chromosomal Instability ISO RGD:1319620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25772433 9053708 Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9053708 Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1319620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25772433 9053708 Ppp2r5c protein phosphatase 2 regulatory subunit B'gamma gene DOID:9008086 Developmental Disabilities ISO RGD:1319620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9053756 Tagln3 transgelin 3 gene DOID:630 genetic disease ISO RGD:1348892 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053774 Tcn2 transcobalamin 2 gene DOID:0050818 transcobalamin II deficiency ISO RGD:1347590 D RGD:7240710 20180130 OMIM 9053774 Tcn2 transcobalamin 2 gene DOID:0050818 transcobalamin II deficiency ISO RGD:1347590 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: TCN2 DEFICIENCY | ClinVar Annotator: match by term: Transcobalamin II deficiency PMID:10518276|PMID:12091374|PMID:12194912|PMID:12707225|PMID:14632784|PMID:16199547|PMID:17220211|PMID:17576681|PMID:19373259|PMID:20352340|PMID:20607612|PMID:22188304|PMID:24033266|PMID:2430590|PMID:25741868|PMID:26827111|PMID:27155006|PMID:28492532|PMID:29631995|PMID:32888943|PMID:7849710|PMID:7980584|PMID:9536098 9053774 Tcn2 transcobalamin 2 gene DOID:0080600 COVID-19 ISO RGD:1347590 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9053774 Tcn2 transcobalamin 2 gene DOID:12450 pancytopenia ISO RGD:1347590 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pancytopenia PMID:16199547|PMID:20352340|PMID:28492532|PMID:7980584 9053774 Tcn2 transcobalamin 2 gene DOID:12849 autistic disorder ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16917939 9053774 Tcn2 transcobalamin 2 gene DOID:13382 megaloblastic anemia ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4627864 9053774 Tcn2 transcobalamin 2 gene DOID:13382 megaloblastic anemia ISO RGD:1347590 D RGD:9068941 20200609 RGD PMID:7849710|REF_RGD_ID:1580450 9053774 Tcn2 transcobalamin 2 gene DOID:14330 Parkinson's disease ISO RGD:1347590 D RGD:9068941 20200609 RGD PMID:20027219|REF_RGD_ID:11060125 9053774 Tcn2 transcobalamin 2 gene DOID:2917 cryoglobulinemia ISO RGD:1347590 D RGD:9068941 20200609 RGD associated with Glomerulonephritis;protein:increased expression:serum: PMID:3574578|REF_RGD_ID:11060121 9053774 Tcn2 transcobalamin 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29379198 9053774 Tcn2 transcobalamin 2 gene DOID:630 genetic disease ISO RGD:1347590 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20352340|PMID:25741868|PMID:28492532|PMID:7980584 9053774 Tcn2 transcobalamin 2 gene DOID:657 adenoma ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389618 9053774 Tcn2 transcobalamin 2 gene DOID:9000300 Refractory Anemia ISO RGD:1347590 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:1059479|REF_RGD_ID:11060122 9053774 Tcn2 transcobalamin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9053774 Tcn2 transcobalamin 2 gene DOID:9002473 Blast Crisis ISO RGD:1347590 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:1059479|REF_RGD_ID:11060122 9053774 Tcn2 transcobalamin 2 gene DOID:9002704 Leukoencephalopathies ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 9053774 Tcn2 transcobalamin 2 gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15753437 9053774 Tcn2 transcobalamin 2 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17389618 9053774 Tcn2 transcobalamin 2 gene DOID:9119 acute myeloid leukemia ISO RGD:1347590 D RGD:9068941 20200609 RGD protein:increased expression:: PMID:1059479|REF_RGD_ID:11060122 9053774 Tcn2 transcobalamin 2 gene DOID:9296 cleft lip ISO RGD:1347590 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470748 9053774 Tcn2 transcobalamin 2 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1347590 D RGD:9068941 20200609 RGD protein:altered activity:plasma: PMID:8754152|REF_RGD_ID:11059889 9053801 Cep15 centrosomal protein 15 gene DOID:630 genetic disease ISO RGD:1347639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053809 Kcnv1 potassium voltage-gated channel modifier subfamily V member 1 gene DOID:630 genetic disease ISO RGD:731335 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:1303284 D RGD:9068941 20200609 RGD PMID:21367919|REF_RGD_ID:10043365 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:0070355 overactive bladder syndrome ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:21367919|PMID:23523557 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:0111729 familial episodic pain syndrome 1 ISO RGD:1344231 D RGD:7240710 20180130 OMIM 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:0111729 familial episodic pain syndrome 1 ISO RGD:1344231 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial episodic pain syndrome 1 PMID:20547126|PMID:25741868|PMID:36430572 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:2841 asthma ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458046 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:2841 asthma severity ISO RGD:1303284 D RGD:9068941 20210709 RGD ovalbumin sensitization PMID:31969645|REF_RGD_ID:127285811 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:630 genetic disease ISO RGD:1344231 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1303284 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:urinary bladder, dorsal root ganglion: PMID:21367919|REF_RGD_ID:10043365 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000133 Sneezing ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000194 Cold Hypersensitivity ISO RGD:1303284 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:21068322|REF_RGD_ID:10043615 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000641 Pain ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601631 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19458046 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9001240 Peripheral Nerve Injuries ISO RGD:1303284 D RGD:9068941 20200609 RGD protein:increased expression:dorsal root ganglion: PMID:18514429|REF_RGD_ID:10043379 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9002211 Hyperalgesia ISO RGD:1303284 D RGD:9068941 20200609 RGD associated with Peripheral Nerve Injuries; PMID:18954467|REF_RGD_ID:10043618 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9002211 Hyperalgesia ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18234885|PMID:21481532|PMID:23523557 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9005372 Inflammation ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20601631 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9005734 Abdominal Pain ISO RGD:1303284 D RGD:9068941 20200609 RGD PMID:24291101|REF_RGD_ID:10043376 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9007073 Cough ISO RGD:1344231 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27545873 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9008820 Visceral Pain ISO RGD:1303284 D RGD:9068941 20200609 RGD associated with Colitis; PMID:23099257|REF_RGD_ID:10043788 9053819 Trpa1 transient receptor potential cation channel subfamily A member 1 gene DOID:9743 diabetic neuropathy ISO RGD:1303284 D RGD:9068941 20200609 RGD PMID:22133672|REF_RGD_ID:10043378 9053850 Kif7 kinesin family member 7 gene DOID:0050753 cerebellar ataxia ISO RGD:1343265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:29286531 9053850 Kif7 kinesin family member 7 gene DOID:0050779 hydrolethalus syndrome ISO RGD:1321141 D RGD:9068941 20220825 MouseDO OMIM:236680 | OMIM:614120 9053850 Kif7 kinesin family member 7 gene DOID:0050779 hydrolethalus syndrome ISO RGD:1343265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552264 9053850 Kif7 kinesin family member 7 gene DOID:0060250 idiopathic scoliosis ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 PMID:21552264|PMID:25741868|PMID:28492532 9053850 Kif7 kinesin family member 7 gene DOID:0060340 ciliopathy ISO RGD:1321141 D RGD:9068941 20220825 MouseDO 9053850 Kif7 kinesin family member 7 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1343265 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:21633164|PMID:25741868|PMID:28492532 9053850 Kif7 kinesin family member 7 gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1343265 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 9053850 Kif7 kinesin family member 7 gene DOID:0111355 hydrolethalus syndrome 1 ISO RGD:1343265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9053850 Kif7 kinesin family member 7 gene DOID:0111356 hydrolethalus syndrome 2 ISO RGD:1343265 D RGD:7240710 20180130 OMIM 9053850 Kif7 kinesin family member 7 gene DOID:0111356 hydrolethalus syndrome 2 ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 2 PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:28492532 9053850 Kif7 kinesin family member 7 gene DOID:1059 intellectual disability ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21552264|PMID:21633164|PMID:25741868|PMID:26092869|PMID:28492532 9053850 Kif7 kinesin family member 7 gene DOID:12712 nephronophthisis ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:21552264|PMID:25741868|PMID:28492532 9053850 Kif7 kinesin family member 7 gene DOID:2717 Bloom syndrome ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9053850 Kif7 kinesin family member 7 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1310310 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme; PMID:25921351|REF_RGD_ID:11553839 9053850 Kif7 kinesin family member 7 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1321141 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 9053850 Kif7 kinesin family member 7 gene DOID:630 genetic disease ISO RGD:1343265 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:18414213|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25131622|PMID:25741868|PMID:26174511|PMID:26648833|PMID:28492532|PMID:29915382 9053850 Kif7 kinesin family member 7 gene DOID:674 cleft palate ISO RGD:1343265 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21552264 9053850 Kif7 kinesin family member 7 gene DOID:9000923 Joubert Syndrome 12 ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 12 PMID:21633164|PMID:22246503 9053850 Kif7 kinesin family member 7 gene DOID:9001875 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency PMID:25741868 9053850 Kif7 kinesin family member 7 gene DOID:9003677 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies ISO RGD:1343265 D RGD:7240710 20190315 OMIM 9053850 Kif7 kinesin family member 7 gene DOID:9003677 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies PMID:21552264|PMID:22587682|PMID:25741868|PMID:28492532|PMID:9689990 9053850 Kif7 kinesin family member 7 gene DOID:9250 acrocallosal syndrome ISO RGD:1343265 D RGD:7240710 20180130 OMIM 9053850 Kif7 kinesin family member 7 gene DOID:9250 acrocallosal syndrome ISO RGD:1343265 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic | ClinVar Annotator: match by term: Schinzel syndrome 1 PMID:16199547|PMID:17576681|PMID:18414213|PMID:19666503|PMID:21552264|PMID:21633164|PMID:22246503|PMID:22587682|PMID:23125460|PMID:24033266|PMID:24339784|PMID:25131622|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26174511|PMID:26349186|PMID:26633542|PMID:26648833|PMID:27081521|PMID:28492532|PMID:28805617|PMID:29286531|PMID:29321670|PMID:29915382|PMID:30315573|PMID:31399769|PMID:32055034|PMID:32164589|PMID:32738303|PMID:9536098 9053850 Kif7 kinesin family member 7 gene DOID:9256 colorectal cancer ISO RGD:1343265 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9053850 Kif7 kinesin family member 7 gene DOID:9296 cleft lip ISO RGD:1343265 D RGD:9068941 20200609 RGD DNA:SNPs:introns:rs4932238,rs4932240(human) PMID:26602496|REF_RGD_ID:11553833 9053879 Cdhr3 cadherin related family member 3 gene DOID:0080600 COVID-19 ISO RGD:1603532 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9053879 Cdhr3 cadherin related family member 3 gene DOID:10754 otitis media ISO RGD:1603532 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Susceptibility to nonsyndromic otitis media PMID:34322716 9053879 Cdhr3 cadherin related family member 3 gene DOID:2841 asthma ISO RGD:1603532 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24241537 9053879 Cdhr3 cadherin related family member 3 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1603532 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9053879 Cdhr3 cadherin related family member 3 gene DOID:630 genetic disease ISO RGD:1603532 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053902 Jakmip2 janus kinase and microtubule interacting protein 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605109 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9053902 Jakmip2 janus kinase and microtubule interacting protein 2 gene DOID:1909 melanoma ISO RGD:1605109 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 9053902 Jakmip2 janus kinase and microtubule interacting protein 2 gene DOID:630 genetic disease ISO RGD:1605109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9053902 Jakmip2 janus kinase and microtubule interacting protein 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9053902 Jakmip2 janus kinase and microtubule interacting protein 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605109 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9053924 Tmem94 transmembrane protein 94 gene DOID:10283 prostate cancer ISO RGD:1605409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9053924 Tmem94 transmembrane protein 94 gene DOID:630 genetic disease ISO RGD:1605409 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9053924 Tmem94 transmembrane protein 94 gene DOID:9001399 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies ISO RGD:1605409 D RGD:7240710 20190417 OMIM 9053924 Tmem94 transmembrane protein 94 gene DOID:9001399 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies ISO RGD:1605409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac defects and dysmorphic facies | ClinVar Annotator: match by term: TMEM94-related condition PMID:25741868|PMID:28097321|PMID:30526868|PMID:32825426 9053924 Tmem94 transmembrane protein 94 gene DOID:9006534 Nervous System Malformations ISO RGD:1605409 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 9053976 Thbd thrombomodulin gene DOID:0050156 idiopathic pulmonary fibrosis severity ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20418386|REF_RGD_ID:5685036 9053976 Thbd thrombomodulin gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16206674 9053976 Thbd thrombomodulin gene DOID:0060903 thrombosis ISO RGD:1349382 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 9053976 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome PMID:10460600|PMID:11245641|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:7811989|PMID:9157575|PMID:9236408 9053976 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome PMID:10460600|PMID:11245641|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:23314101|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501|PMID:7811989|PMID:9157575|PMID:9236408 9053976 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:10460600|PMID:11245641|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:23314101|PMID:23332921|PMID:24933457|PMID:25135378|PMID:25741868|PMID:28492532|PMID:28939980|PMID:31064749|PMID:31118930|PMID:34355501|PMID:7811989|PMID:9157575|PMID:9198186|PMID:9236408 9053976 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1349382 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:10102456|PMID:10460600|PMID:11245641|PMID:11552992|PMID:11986219|PMID:12139752|PMID:15574195|PMID:17677000|PMID:19625716|PMID:20595690|PMID:23314101|PMID:23332921|PMID:24029428|PMID:24799305|PMID:24933457|PMID:25135378|PMID:25741868|PMID:27904864|PMID:28492532|PMID:28939980|PMID:31064749|PMID:31118930|PMID:32890900|PMID:32935436|PMID:34355501|PMID:7811989|PMID:9157575|PMID:9198186|PMID:9236408 9053976 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome no_association ISO RGD:1349382 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr, 3' utr:multiple PMID:19625716|REF_RGD_ID:11038691 9053976 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome severity ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20595690|REF_RGD_ID:11038684 9053976 Thbd thrombomodulin gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1349382 D RGD:7240710 20240313 OMIM 9053976 Thbd thrombomodulin gene DOID:0111908 thrombophilia due to thrombomodulin defect ISO RGD:1349382 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thrombomodulin-related bleeding disorder | ClinVar Annotator: match by term: Thrombophilia due to thrombomodulin defect PMID:10102456|PMID:10195941|PMID:10460600|PMID:10627464|PMID:11078228|PMID:11552992|PMID:11986219|PMID:12139752|PMID:19625716|PMID:20595690|PMID:23314101|PMID:23332921|PMID:24029428|PMID:24799305|PMID:24933457|PMID:25135378|PMID:25741868|PMID:27904864|PMID:28492532|PMID:28939980|PMID:31118930|PMID:32890900|PMID:32935436|PMID:34355501|PMID:7811989|PMID:9198186|PMID:9236408|PMID:9364978|PMID:9843165 9053976 Thbd thrombomodulin gene DOID:0111908 thrombophilia due to thrombomodulin defect susceptibility ISO RGD:1349382 D RGD:7240710 20240313 OMIM 9053976 Thbd thrombomodulin gene DOID:0112313 brain small vessel disease severity ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:artery endothelium PMID:22170884|REF_RGD_ID:5684978 9053976 Thbd thrombomodulin gene DOID:10223 dermatomyositis ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17899683|REF_RGD_ID:5685006 9053976 Thbd thrombomodulin gene DOID:10652 Alzheimer's disease ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15760641|REF_RGD_ID:5685018 9053976 Thbd thrombomodulin gene DOID:10763 hypertension ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:16095049|REF_RGD_ID:5685017 9053976 Thbd thrombomodulin gene DOID:10763 hypertension ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:17401180|REF_RGD_ID:1601636 9053976 Thbd thrombomodulin gene DOID:10763 hypertension ISO RGD:621299 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:12611420|REF_RGD_ID:1601652 9053976 Thbd thrombomodulin gene DOID:10763 hypertension treatment ISO RGD:621299 D RGD:9068941 20200609 RGD associated with Experimental Diabetes Mellitus PMID:14737039|REF_RGD_ID:1601646 9053976 Thbd thrombomodulin gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7740478 9053976 Thbd thrombomodulin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9134660 9053976 Thbd thrombomodulin gene DOID:11247 disseminated intravascular coagulation ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:21569368|REF_RGD_ID:5685034 9053976 Thbd thrombomodulin gene DOID:11247 disseminated intravascular coagulation treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:23952647|REF_RGD_ID:11038686 9053976 Thbd thrombomodulin gene DOID:11394 adult respiratory distress syndrome ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12707536 9053976 Thbd thrombomodulin gene DOID:11394 adult respiratory distress syndrome ISO RGD:621299 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:12707536|REF_RGD_ID:1601651 9053976 Thbd thrombomodulin gene DOID:12132 granulomatosis with polyangiitis ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:20156770|REF_RGD_ID:5684985 9053976 Thbd thrombomodulin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:22942429|REF_RGD_ID:11038690 9053976 Thbd thrombomodulin gene DOID:13809 familial combined hyperlipidemia ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:15262191|REF_RGD_ID:1601645 9053976 Thbd thrombomodulin gene DOID:1459 hypothyroidism ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:22985614|REF_RGD_ID:11038688 9053976 Thbd thrombomodulin gene DOID:1588 thrombocytopenia ISO RGD:1349382 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:10102456|PMID:11552992|PMID:11986219|PMID:19625716|PMID:20595690|PMID:24029428|PMID:25741868|PMID:27904864|PMID:28492532|PMID:32890900|PMID:32935436 9053976 Thbd thrombomodulin gene DOID:1875 impotence ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:11596671|REF_RGD_ID:2312459 9053976 Thbd thrombomodulin gene DOID:2213 hemorrhagic disease ISO RGD:1349382 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10102456|PMID:11552992|PMID:11986219|PMID:19625716|PMID:20595690|PMID:24029428|PMID:25741868|PMID:27904864|PMID:28492532|PMID:31064749|PMID:32890900|PMID:32935436|PMID:34970867 9053976 Thbd thrombomodulin gene DOID:2452 thrombophilia ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12139752 9053976 Thbd thrombomodulin gene DOID:2452 thrombophilia ISO RGD:1553030 D RGD:9068941 20220825 MouseDO OMIM:188050 | OMIM:614486 9053976 Thbd thrombomodulin gene DOID:2841 asthma ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20709825|REF_RGD_ID:5684984 9053976 Thbd thrombomodulin gene DOID:2945 severe acute respiratory syndrome ISO RGD:1349382 D RGD:9068941 20200625 RGD protein:increased expression:plasma (human) PMID:16274108|REF_RGD_ID:30309949 9053976 Thbd thrombomodulin gene DOID:2987 familial mediterranean fever ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:17067436|REF_RGD_ID:5685013 9053976 Thbd thrombomodulin gene DOID:3021 acute kidney failure ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17804460|REF_RGD_ID:5685010 9053976 Thbd thrombomodulin gene DOID:3021 acute kidney failure treatment ISO RGD:621299 D RGD:9068941 20200609 RGD PMID:19176699|REF_RGD_ID:5684994 9053976 Thbd thrombomodulin gene DOID:326 ischemia ISO RGD:621299 D RGD:9068941 20200609 RGD PMID:19461288|REF_RGD_ID:2312461 9053976 Thbd thrombomodulin gene DOID:3393 coronary artery disease severity ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17012137|REF_RGD_ID:1601638 9053976 Thbd thrombomodulin gene DOID:3410 carotid artery thrombosis ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:21885846|REF_RGD_ID:5684980 9053976 Thbd thrombomodulin gene DOID:3526 cerebral infarction susceptibility ISO RGD:1349382 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.A455V (human) PMID:15574195|REF_RGD_ID:5685021 9053976 Thbd thrombomodulin gene DOID:3908 lung non-small cell carcinoma disease_progression ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20607726|REF_RGD_ID:5685035 9053976 Thbd thrombomodulin gene DOID:409 liver disease ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:19487933|REF_RGD_ID:5684988 9053976 Thbd thrombomodulin gene DOID:557 kidney disease ISO RGD:1349382 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:10460600|PMID:11986219|PMID:12139752|PMID:25741868|PMID:28492532|PMID:7811989 9053976 Thbd thrombomodulin gene DOID:5844 myocardial infarction ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10627464|PMID:9843165 9053976 Thbd thrombomodulin gene DOID:630 genetic disease ISO RGD:1349382 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9053976 Thbd thrombomodulin gene DOID:6432 pulmonary hypertension ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Mixed Connective Tissue Disease PMID:16784493|REF_RGD_ID:1601639 9053976 Thbd thrombomodulin gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:15209962|REF_RGD_ID:5685023 9053976 Thbd thrombomodulin gene DOID:7147 ankylosing spondylitis ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:21556780|REF_RGD_ID:5684983 9053976 Thbd thrombomodulin gene DOID:7148 rheumatoid arthritis ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:15700117|REF_RGD_ID:5685020 9053976 Thbd thrombomodulin gene DOID:783 end stage renal disease ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:21873362|REF_RGD_ID:5684981 9053976 Thbd thrombomodulin gene DOID:783 end stage renal disease ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:22129968|REF_RGD_ID:5684979 9053976 Thbd thrombomodulin gene DOID:8577 ulcerative colitis ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:decreased expression:colon, blood vessel PMID:17557119|REF_RGD_ID:5685011 9053976 Thbd thrombomodulin gene DOID:8778 Crohn's disease ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:decreased expression:colon, blood vessel PMID:17557119|REF_RGD_ID:5685011 9053976 Thbd thrombomodulin gene DOID:9000039 Spinal Cord Injuries ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:15307903|REF_RGD_ID:1580060 9053976 Thbd thrombomodulin gene DOID:9000169 Systemic Inflammatory Response Syndrome ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:15187749|REF_RGD_ID:5685024 9053976 Thbd thrombomodulin gene DOID:9000217 Stomach Neoplasms ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9053976 Thbd thrombomodulin gene DOID:9000528 Coronary Disease ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma PMID:17200788|REF_RGD_ID:2312456 9053976 Thbd thrombomodulin gene DOID:9000998 Brain Injuries onset ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17895610|REF_RGD_ID:5685007 9053976 Thbd thrombomodulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9053976 Thbd thrombomodulin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:621299 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:21112949|REF_RGD_ID:5685038 9053976 Thbd thrombomodulin gene DOID:9002211 Hyperalgesia ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27474498 9053976 Thbd thrombomodulin gene DOID:9002211 Hyperalgesia treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Inflammation PMID:24004409|REF_RGD_ID:11038687 9053976 Thbd thrombomodulin gene DOID:9002227 B-Cell Chronic Lymphocytic Leukemia ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:21812019|REF_RGD_ID:5685033 9053976 Thbd thrombomodulin gene DOID:9002457 Experimental Arthritis ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:16879225|REF_RGD_ID:5685015 9053976 Thbd thrombomodulin gene DOID:9002906 Multiple Organ Failure treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:8665042|REF_RGD_ID:11038715 9053976 Thbd thrombomodulin gene DOID:9003121 Thromboembolism treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:24098750|REF_RGD_ID:11038685 9053976 Thbd thrombomodulin gene DOID:9004009 Reperfusion Injury ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:19342415|REF_RGD_ID:5131887 9053976 Thbd thrombomodulin gene DOID:9004484 Sepsis ISO RGD:621299 D RGD:9068941 20200609 RGD PMID:17577447|REF_RGD_ID:2312462 9053976 Thbd thrombomodulin gene DOID:9004590 Acute Liver Failure ISO RGD:621299 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:11882417|REF_RGD_ID:1601654 9053976 Thbd thrombomodulin gene DOID:9004610 Acute Lung Injury ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Endotoxemia PMID:19536047|REF_RGD_ID:5685372 9053976 Thbd thrombomodulin gene DOID:9004610 Acute Lung Injury ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:19342415|REF_RGD_ID:5131887 9053976 Thbd thrombomodulin gene DOID:9004610 Acute Lung Injury treatment ISO RGD:621299 D RGD:9068941 20200609 RGD PMID:20095324|REF_RGD_ID:13515130 9053976 Thbd thrombomodulin gene DOID:9004649 Heat Stroke ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20160670|REF_RGD_ID:5684987 9053976 Thbd thrombomodulin gene DOID:9004974 Painful Neuropathy ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27474498 9053976 Thbd thrombomodulin gene DOID:9005372 Inflammation treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:24004409|REF_RGD_ID:11038687 9053976 Thbd thrombomodulin gene DOID:9005930 Endotoxemia ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:19487933|REF_RGD_ID:5684988 9053976 Thbd thrombomodulin gene DOID:9005930 Endotoxemia ISO RGD:1553030 D RGD:9068941 20200609 RGD PMID:20348393|REF_RGD_ID:5685037 9053976 Thbd thrombomodulin gene DOID:9005930 Endotoxemia ISO RGD:621299 D RGD:9068941 20200609 RGD mRNA:decreased expression:endothelial cell PMID:12611420|REF_RGD_ID:1601652 9053976 Thbd thrombomodulin gene DOID:9006646 Metabolic Syndrome ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies;protein:increased expression:plasma PMID:16567841|REF_RGD_ID:1601641 9053976 Thbd thrombomodulin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:27474498 9053976 Thbd thrombomodulin gene DOID:9007096 Stroke ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:20581778|PMID:21645225|REF_RGD_ID:5684982|REF_RGD_ID:5684986 9053976 Thbd thrombomodulin gene DOID:9007479 Habitual Abortions susceptibility ISO RGD:1349382 D RGD:9068941 20200609 RGD DNA:SNP: :1418C>T (human) PMID:23954867|REF_RGD_ID:11038683 9053976 Thbd thrombomodulin gene DOID:9007692 Insulin Resistance ISO RGD:1349382 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent PMID:11453033|REF_RGD_ID:2312460 9053976 Thbd thrombomodulin gene DOID:9008609 Endotoxin-Induced Uveitis treatment ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:22001200|REF_RGD_ID:11038716 9053976 Thbd thrombomodulin gene DOID:9074 systemic lupus erythematosus ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:18484695|REF_RGD_ID:5684995 9053976 Thbd thrombomodulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:1349382 D RGD:9068941 20200609 RGD PMID:17195062|REF_RGD_ID:2312457 9053976 Thbd thrombomodulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:621299 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood vessel endothelial cell PMID:17090405|REF_RGD_ID:1601648 9053976 Thbd thrombomodulin gene DOID:9352 type 2 diabetes mellitus disease_progression ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11738074|REF_RGD_ID:2312458 9053976 Thbd thrombomodulin gene DOID:9477 pulmonary embolism ISO RGD:1349382 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7811989 9053976 Thbd thrombomodulin gene DOID:9744 type 1 diabetes mellitus disease_progression ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11738074|REF_RGD_ID:2312458 9053976 Thbd thrombomodulin gene DOID:9970 obesity severity ISO RGD:1349382 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:16651309|REF_RGD_ID:1601640 9053982 Ccdc136 coiled-coil domain containing 136 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9053982 Ccdc136 coiled-coil domain containing 136 gene DOID:630 genetic disease ISO RGD:1604321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054017 Mob2 MOB kinase activator 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9054017 Mob2 MOB kinase activator 2 gene DOID:0080773 delta beta-thalassemia ISO RGD:1602095 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9054017 Mob2 MOB kinase activator 2 gene DOID:0111969 immunodeficiency 39 ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 9054017 Mob2 MOB kinase activator 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9054017 Mob2 MOB kinase activator 2 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9054017 Mob2 MOB kinase activator 2 gene DOID:630 genetic disease ISO RGD:1602095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054017 Mob2 MOB kinase activator 2 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:1602095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 9054017 Mob2 MOB kinase activator 2 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1602095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 9054031 Ncoa7 nuclear receptor coactivator 7 gene DOID:630 genetic disease ISO RGD:1603583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054031 Ncoa7 nuclear receptor coactivator 7 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1603583 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29662167 9054062 Dennd4a DENN domain containing 4A gene DOID:0110935 nemaline myopathy 6 ISO RGD:1349929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 9054062 Dennd4a DENN domain containing 4A gene DOID:2717 Bloom syndrome ISO RGD:1349929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9054062 Dennd4a DENN domain containing 4A gene DOID:630 genetic disease ISO RGD:1349929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054062 Dennd4a DENN domain containing 4A gene DOID:9256 colorectal cancer ISO RGD:1349929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9054107 Mrpl37 mitochondrial ribosomal protein L37 gene DOID:0080600 COVID-19 ISO RGD:1348769 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9054107 Mrpl37 mitochondrial ribosomal protein L37 gene DOID:630 genetic disease ISO RGD:1348769 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054118 Nudt14 nudix hydrolase 14 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1321575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 9054118 Nudt14 nudix hydrolase 14 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1321575 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 9054118 Nudt14 nudix hydrolase 14 gene DOID:630 genetic disease ISO RGD:1321575 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054152 Depdc1b DEP domain containing 1B gene DOID:0080600 COVID-19 ISO RGD:1314052 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9054152 Depdc1b DEP domain containing 1B gene DOID:0080907 Cockayne syndrome A ISO RGD:1314052 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type 1 9054152 Depdc1b DEP domain containing 1B gene DOID:630 genetic disease ISO RGD:1314052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054152 Depdc1b DEP domain containing 1B gene DOID:684 hepatocellular carcinoma ISO RGD:1314052 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9054152 Depdc1b DEP domain containing 1B gene DOID:9002649 Acrodysostosis 2, with or without Hormone Resistance ISO RGD:1314052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance PMID:21681106|PMID:24203977 9054152 Depdc1b DEP domain containing 1B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9054170 Erp29 endoplasmic reticulum protein 29 gene DOID:3910 lung adenocarcinoma ISO RGD:735473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19381893 9054170 Erp29 endoplasmic reticulum protein 29 gene DOID:630 genetic disease ISO RGD:735473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054170 Erp29 endoplasmic reticulum protein 29 gene DOID:684 hepatocellular carcinoma ISO RGD:735473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 9054170 Erp29 endoplasmic reticulum protein 29 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 9054170 Erp29 endoplasmic reticulum protein 29 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9054189 Med28 mediator complex subunit 28 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1354293 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9054189 Med28 mediator complex subunit 28 gene DOID:630 genetic disease ISO RGD:1354293 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054189 Med28 mediator complex subunit 28 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1354293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21942447 9054189 Med28 mediator complex subunit 28 gene DOID:9008939 Breast Neoplasms ISO RGD:1354293 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21942447 9054197 Tmem174 transmembrane protein 174 gene DOID:630 genetic disease ISO RGD:1606156 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054197 Tmem174 transmembrane protein 174 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9054207 Slc13a4 solute carrier family 13 member 4 gene DOID:0060041 autism spectrum disorder ISO RGD:1345589 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9054207 Slc13a4 solute carrier family 13 member 4 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1345589 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9054207 Slc13a4 solute carrier family 13 member 4 gene DOID:5082 liver cirrhosis ISO RGD:1345589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 9054207 Slc13a4 solute carrier family 13 member 4 gene DOID:630 genetic disease ISO RGD:1345589 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054207 Slc13a4 solute carrier family 13 member 4 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1345589 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25226513 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0060027 agammaglobulinemia 4 ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive PMID:28492532 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070131 autosomal dominant cutis laxa 3 ISO RGD:1350073 D RGD:7240710 20180130 OMIM 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070131 autosomal dominant cutis laxa 3 ISO RGD:1350073 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 PMID:11092761|PMID:16199547|PMID:17576681|PMID:21739576|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:26829900|PMID:27023906|PMID:28228640|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:32371413|PMID:33144682|PMID:37119015|PMID:8779323|PMID:9536098|PMID:9643297 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070132 autosomal recessive cutis laxa type IIIA ISO RGD:1350073 D RGD:7240710 20180130 OMIM 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070132 autosomal recessive cutis laxa type IIIA ISO RGD:1350073 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A PMID:11092761|PMID:16199547|PMID:17576681|PMID:18478038|PMID:21739576|PMID:22411858|PMID:23963297|PMID:24767728|PMID:24913064|PMID:25077174|PMID:25326637|PMID:25741868|PMID:26026163|PMID:26297557|PMID:26297558|PMID:26320891|PMID:26829900|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:30244529|PMID:32017139|PMID:32371413|PMID:36067040|PMID:37119015|PMID:8779323|PMID:9536098 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070142 autosomal dominant cutis laxa ISO RGD:1350073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0070143 autosomal recessive cutis laxa type III ISO RGD:1350073 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome PMID:16199547|PMID:17576681|PMID:21739576|PMID:22411858|PMID:23963297|PMID:24913064|PMID:25077174|PMID:25326637|PMID:25741868|PMID:26026163|PMID:26297557|PMID:26297558|PMID:26320891|PMID:26829900|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:30244529|PMID:32017139|PMID:32371413|PMID:36067040|PMID:37119015|PMID:8779323|PMID:9536098 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110810 hereditary spastic paraplegia 5A ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:25741868|PMID:28492532 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110824 hereditary spastic paraplegia 9A ISO RGD:1350073 D RGD:7240710 20180130 OMIM 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110824 hereditary spastic paraplegia 9A ISO RGD:1350073 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX PMID:16199547|PMID:17576681|PMID:21739576|PMID:22411858|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:26829900|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:30244529|PMID:31130284|PMID:31402623|PMID:32342562|PMID:32371413|PMID:32798076|PMID:33144682|PMID:37119015|PMID:8779323|PMID:9536098|PMID:9973297 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110825 hereditary spastic paraplegia 9B ISO RGD:1350073 D RGD:7240710 20180130 OMIM 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0110825 hereditary spastic paraplegia 9B ISO RGD:1350073 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B | ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive PMID:17576681|PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:29915212|PMID:32798076|PMID:36067040|PMID:37119015|PMID:9536098 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:0112281 spondyloepiphyseal dysplasia Stanescu type ISO RGD:1350073 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Stanescu type PMID:25741868|PMID:28492532|PMID:36067040 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:1059 intellectual disability ISO RGD:1350073 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:1283 enterocele ISO RGD:1350073 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) PMID:26320891|REF_RGD_ID:13434923 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:1909 melanoma ISO RGD:1350073 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:3910 lung adenocarcinoma ISO RGD:1350073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:630 genetic disease ISO RGD:1350073 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:31402623|PMID:36067040|PMID:9536098|PMID:9973297 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:83 cataract ISO RGD:1350073 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) PMID:26320891|REF_RGD_ID:13434923 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:9001734 Neurocutaneous Syndromes ISO RGD:1350073 D RGD:9068941 20200609 RGD DNA:missense mutation;exon:2350C>T(p.H784Y)(human) PMID:18478038|REF_RGD_ID:13439711 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:9002034 Autosomal Recessive Cutis Laxa ISO RGD:1350073 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:1350073 D RGD:9068941 20200609 RGD DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) PMID:26320891|REF_RGD_ID:13434923 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:9006205 Animal Disease Models ISO RGD:1350073 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9054230 Aldh18a1 aldehyde dehydrogenase 18 family member A1 gene DOID:9006534 Nervous System Malformations ISO RGD:1350073 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25077174|PMID:25326637|PMID:25741868|PMID:28492532 9054254 Rpusd3 RNA pseudouridine synthase D3 gene DOID:2843 long QT syndrome ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 9054254 Rpusd3 RNA pseudouridine synthase D3 gene DOID:630 genetic disease ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970 9054254 Rpusd3 RNA pseudouridine synthase D3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9054254 Rpusd3 RNA pseudouridine synthase D3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1351633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 9054274 Otop1 otopetrin 1 gene DOID:12714 Ellis-Van Creveld syndrome ISO RGD:735811 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:18454448|PMID:19810119|PMID:19876929|PMID:25174843|PMID:28492532 9054274 Otop1 otopetrin 1 gene DOID:630 genetic disease ISO RGD:735811 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054283 Klk15 kallikrein related peptidase 15 gene DOID:630 genetic disease ISO RGD:1322213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054296 Crb3 crumbs cell polarity complex component 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1348954 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 9054296 Crb3 crumbs cell polarity complex component 3 gene DOID:630 genetic disease ISO RGD:1348954 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054309 Elp6 elongator acetyltransferase complex subunit 6 gene DOID:630 genetic disease ISO RGD:1606547 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054309 Elp6 elongator acetyltransferase complex subunit 6 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1606547 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 9054336 Glul glutamate-ammonia ligase gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 9054336 Glul glutamate-ammonia ligase gene DOID:10652 Alzheimer's disease ISO RGD:730955 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid:significant increase in active protein vs normal patients and controls with other neurological disorders PMID:1361232|REF_RGD_ID:2301429 9054336 Glul glutamate-ammonia ligase gene DOID:10652 Alzheimer's disease ISO RGD:730955 D RGD:9068941 20200609 RGD protein:increased oxidation:brain PMID:12160938|REF_RGD_ID:2301427 9054336 Glul glutamate-ammonia ligase gene DOID:1070 primary open angle glaucoma ISO RGD:730955 D RGD:9068941 20230902 RGD protein:increases expression:aqueous humor PMID:22974818|REF_RGD_ID:401794589 9054336 Glul glutamate-ammonia ligase gene DOID:114 heart disease disease_progression ISO RGD:730955 D RGD:9068941 20230824 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs10911021 (human) PMID:26395743|REF_RGD_ID:11074405 9054336 Glul glutamate-ammonia ligase gene DOID:11832 visual epilepsy ISO RGD:2710 D RGD:9068941 20200609 RGD PMID:21935729|REF_RGD_ID:10047087 9054336 Glul glutamate-ammonia ligase gene DOID:12858 Huntington's disease ISO RGD:730955 D RGD:9068941 20200609 RGD PMID:3159462|PMID:6237280|REF_RGD_ID:10046047|REF_RGD_ID:13524508 9054336 Glul glutamate-ammonia ligase gene DOID:13413 hepatic encephalopathy ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10564534 9054336 Glul glutamate-ammonia ligase gene DOID:1540 parathyroid carcinoma ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9054336 Glul glutamate-ammonia ligase gene DOID:224 transient cerebral ischemia ISO RGD:2710 D RGD:9068941 20230824 RGD protein:increased expression:hippocampus PMID:21371894|REF_RGD_ID:401794419 9054336 Glul glutamate-ammonia ligase gene DOID:224 transient cerebral ischemia treatment ISO RGD:2710 D RGD:9068941 20230902 RGD PMID:21272618|PMID:27664163|REF_RGD_ID:401794415|REF_RGD_ID:401794590 9054336 Glul glutamate-ammonia ligase gene DOID:224 transient cerebral ischemia treatment ISO RGD:2710 D RGD:9068941 20230902 RGD associated with carotid artery occlusion PMID:25365917|REF_RGD_ID:401794591 9054336 Glul glutamate-ammonia ligase gene DOID:3328 temporal lobe epilepsy ISO RGD:2710 D RGD:9068941 20200609 RGD inhibition results in recurrent seizures PMID:18669513|REF_RGD_ID:2301554 9054336 Glul glutamate-ammonia ligase gene DOID:3328 temporal lobe epilepsy ISO RGD:730955 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:hippocampus PMID:14723991|REF_RGD_ID:2301555 9054336 Glul glutamate-ammonia ligase gene DOID:3328 temporal lobe epilepsy ISO RGD:736181 D RGD:9068941 20220825 MouseDO 9054336 Glul glutamate-ammonia ligase gene DOID:3525 middle cerebral artery infarction ISO RGD:2710 D RGD:9068941 20230824 RGD protein:increased expression:eye PMID:24518488|REF_RGD_ID:401794420 9054336 Glul glutamate-ammonia ligase gene DOID:3525 middle cerebral artery infarction ISO RGD:2710 D RGD:9068941 20230921 RGD protein:increased expression:cerebrum, astrocyte PMID:23595285|REF_RGD_ID:401794586 9054336 Glul glutamate-ammonia ligase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:2710 D RGD:9068941 20230902 RGD PMID:26024074|PMID:26093193|REF_RGD_ID:401794587|REF_RGD_ID:401794592 9054336 Glul glutamate-ammonia ligase gene DOID:409 liver disease ISO RGD:730955 D RGD:9068941 20230824 RGD PMID:31335486|REF_RGD_ID:401794409 9054336 Glul glutamate-ammonia ligase gene DOID:409 liver disease disease_progression ISO RGD:730955 D RGD:9068941 20230824 RGD PMID:23362937|REF_RGD_ID:401794411 9054336 Glul glutamate-ammonia ligase gene DOID:5082 liver cirrhosis severity ISO RGD:730955 D RGD:9068941 20230824 RGD associated with congestive heart failure PMID:30950843|REF_RGD_ID:401793761 9054336 Glul glutamate-ammonia ligase gene DOID:5419 schizophrenia ISO RGD:730955 D RGD:9068941 20200609 RGD protein:decreased expression:superior temporal gyrus, anterior cingulate cortex PMID:18562176|REF_RGD_ID:2301556 9054336 Glul glutamate-ammonia ligase gene DOID:630 genetic disease ISO RGD:730955 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9054336 Glul glutamate-ammonia ligase gene DOID:684 hepatocellular carcinoma ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19363144 9054336 Glul glutamate-ammonia ligase gene DOID:8947 diabetic retinopathy treatment ISO RGD:2710 D RGD:9068941 20230902 RGD associated with Experimental Diabetes Mellitus PMID:34133251|REF_RGD_ID:401794594 9054336 Glul glutamate-ammonia ligase gene DOID:9000528 Coronary Disease ISO RGD:730955 D RGD:9068941 20230824 RGD associated with type 2 diabetes mellitus;DNA:SNP: :rs10911021 (human) PMID:23982368|REF_RGD_ID:401794410 9054336 Glul glutamate-ammonia ligase gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20118494|PMID:21147764 9054336 Glul glutamate-ammonia ligase gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:2710 D RGD:9068941 20230902 RGD PMID:12766648|REF_RGD_ID:401794596 9054336 Glul glutamate-ammonia ligase gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2710 D RGD:9068941 20230824 RGD PMID:22008240|REF_RGD_ID:401794422 9054336 Glul glutamate-ammonia ligase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2710 D RGD:9068941 20230824 RGD mRNA, protein:decreased expression: retina PMID:21770802|REF_RGD_ID:401794412 9054336 Glul glutamate-ammonia ligase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2710 D RGD:9068941 20230824 RGD protein:decreased expression:retina PMID:25335981|REF_RGD_ID:401794423 9054336 Glul glutamate-ammonia ligase gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:2710 D RGD:9068941 20230921 RGD PMID:23284834|PMID:23595285|PMID:26677078|REF_RGD_ID:401794418|REF_RGD_ID:401794421|REF_RGD_ID:401794586 9054336 Glul glutamate-ammonia ligase gene DOID:9005683 Metabolic Brain Diseases, Inborn ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16267323 9054336 Glul glutamate-ammonia ligase gene DOID:9006778 Carotid Atherosclerosis ISO RGD:730955 D RGD:9068941 20230824 RGD PMID:35667160|REF_RGD_ID:401793760 9054336 Glul glutamate-ammonia ligase gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 9054336 Glul glutamate-ammonia ligase gene DOID:9008125 Glutamine Deficiency, Congenital ISO RGD:730955 D RGD:7240710 20180130 OMIM 9054336 Glul glutamate-ammonia ligase gene DOID:9008125 Glutamine Deficiency, Congenital ISO RGD:730955 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC | ClinVar Annotator: match by term: Glutamine deficiency, congenital | ClinVar Annotator: match by term: Glutamine synthetase deficiency, congenital systemic PMID:16267323|PMID:17576681|PMID:21353613|PMID:25741868|PMID:27775558|PMID:28492532|PMID:33150193|PMID:9536098 9054336 Glul glutamate-ammonia ligase gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:2710 D RGD:9068941 20200609 RGD PMID:6445277|REF_RGD_ID:10047091 9054336 Glul glutamate-ammonia ligase gene DOID:9008914 Lead Poisoning ISO RGD:2710 D RGD:9068941 20230902 RGD protein:increased expression:stellate ganglion PMID:29457680|REF_RGD_ID:401794593 9054336 Glul glutamate-ammonia ligase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:730955 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9054336 Glul glutamate-ammonia ligase gene DOID:9970 obesity ISO RGD:2710 D RGD:9068941 20200609 RGD protein:increased activity:skeletal muscle:activity is increased in Zucker fa/fa genetically obese but not dietary obese (fa/?) rats vs non-obese (fa/?) rats PMID:15481771|REF_RGD_ID:2301479 9054336 Glul glutamate-ammonia ligase gene DOID:9970 obesity ISO RGD:730955 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732435 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:732435 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:12524598|PMID:22025579|PMID:24349080|PMID:24793135|PMID:25741868|PMID:26467025|PMID:28492532 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0110124 Bardet-Biedl syndrome 2 ISO RGD:732435 D RGD:7240710 20180130 OMIM 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0110124 Bardet-Biedl syndrome 2 ISO RGD:732435 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BBS2-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 PMID:11285252|PMID:11567139|PMID:11886943|PMID:12016587|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:14520415|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16582908|PMID:16823392|PMID:16877420|PMID:16909204|PMID:17576681|PMID:19402160|PMID:19797195|PMID:20120035|PMID:20177705|PMID:20498079|PMID:20618352|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22353939|PMID:22401627|PMID:22410627|PMID:22773737|PMID:22981120|PMID:23432027|PMID:23829372|PMID:24033266|PMID:24154662|PMID:24280758|PMID:24349080|PMID:24608809|PMID:24793135|PMID:24849935|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25533962|PMID:25541840|PMID:25611614|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26078953|PMID:26325687|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27058611|PMID:27353947|PMID:27659767|PMID:27708425|PMID:27894351|PMID:28005958|PMID:28143435|PMID:28374938|PMID:28387813|PMID:28418496|PMID:28492532|PMID:28559085|PMID:28717663|PMID:28800606|PMID:29588463|PMID:30029678|PMID:30293640|PMID:30614526|PMID:30718709|PMID:30902645|PMID:31054281|PMID:31283077|PMID:31429209|PMID:31456290|PMID:31530639|PMID:31877679|PMID:31960602|PMID:31980526|PMID:32037395|PMID:32349990|PMID:32436246|PMID:33138063|PMID:33226606|PMID:33520300|PMID:33777945|PMID:33921607|PMID:34008892|PMID:34906470|PMID:35112343|PMID:35886001|PMID:8298649|PMID:9536098 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0110401 retinitis pigmentosa 74 ISO RGD:732435 D RGD:7240710 20180130 OMIM 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0110401 retinitis pigmentosa 74 ISO RGD:732435 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 74 PMID:11285252|PMID:11567139|PMID:12837689|PMID:19402160|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26467025|PMID:26518167|PMID:27659767|PMID:28143435|PMID:28492532|PMID:28559085|PMID:31054281|PMID:31456290|PMID:31530639|PMID:31877679|PMID:31980526|PMID:32037395|PMID:34008892|PMID:34906470|PMID:35112343|PMID:35886001 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732435 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:10584 retinitis pigmentosa ISO RGD:732435 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11285252|PMID:11567139|PMID:17576681|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24033266|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27659767|PMID:27894351|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:31530639|PMID:31980526|PMID:32037395|PMID:33777945|PMID:33921607|PMID:34008892|PMID:34906470|PMID:35112343|PMID:35886001|PMID:9536098 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:10584 retinitis pigmentosa ISO RGD:732435 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11285252|PMID:11567139|PMID:17576681|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24033266|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27659767|PMID:27894351|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:31530639|PMID:31877679|PMID:31980526|PMID:32037395|PMID:33777945|PMID:33921607|PMID:34008892|PMID:34906470|PMID:35112343|PMID:35886001|PMID:9536098 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:732435 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:11567139|PMID:11886943|PMID:12016587|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:14520415|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16877420|PMID:16909204|PMID:17576681|PMID:19402160|PMID:19763152|PMID:19797195|PMID:20120035|PMID:20177705|PMID:20307669|PMID:20498079|PMID:20618352|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22025579|PMID:22353939|PMID:22401627|PMID:22406018|PMID:22410627|PMID:22773737|PMID:22981120|PMID:23432027|PMID:23829372|PMID:24033266|PMID:24154662|PMID:24280758|PMID:24349080|PMID:24608809|PMID:24793135|PMID:24849935|PMID:25133751|PMID:25170860|PMID:25412400|PMID:25525159|PMID:25533962|PMID:25541840|PMID:25611614|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26078953|PMID:26325687|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27058611|PMID:27353947|PMID:27659767|PMID:27708425|PMID:27894351|PMID:28005958|PMID:28143435|PMID:28374938|PMID:28387813|PMID:28418496|PMID:28492532|PMID:28559085|PMID:28717663|PMID:28747448|PMID:28800606|PMID:29588463|PMID:30029678|PMID:30293640|PMID:30614526|PMID:30718709|PMID:30866059|PMID:30902645|PMID:31054281|PMID:31196119|PMID:31283077|PMID:31429209|PMID:31456290|PMID:31530639|PMID:31630094|PMID:31877679|PMID:31960602|PMID:31980526|PMID:32037395|PMID:32349990|PMID:32436246|PMID:33138063|PMID:33226606|PMID:33520300|PMID:33777945|PMID:33781268|PMID:33921607|PMID:34008892|PMID:34906470|PMID:35112343|PMID:35886001|PMID:8298649|PMID:9536098 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:630 genetic disease ISO RGD:732435 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11285252|PMID:11567139|PMID:17576681|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24033266|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:25988237|PMID:25999675|PMID:26467025|PMID:26518167|PMID:27659767|PMID:28492532|PMID:28559085|PMID:30718709|PMID:31456290|PMID:31530639|PMID:31980526|PMID:32037395|PMID:34906470|PMID:35112343|PMID:35886001|PMID:9536098 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:8501 fundus dystrophy ISO RGD:732435 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11285252|PMID:11567139|PMID:12837689|PMID:15666242|PMID:16199547|PMID:19402160|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21463199|PMID:21642631|PMID:22401627|PMID:22410627|PMID:23829372|PMID:24280758|PMID:24608809|PMID:25133751|PMID:25412400|PMID:25541840|PMID:25741868|PMID:26467025|PMID:26518167|PMID:27353947|PMID:27659767|PMID:28492532|PMID:28559085|PMID:30029678|PMID:30718709|PMID:31456290|PMID:31530639|PMID:31877679|PMID:31980526|PMID:32037395|PMID:33520300|PMID:33777945|PMID:34906470|PMID:35112343|PMID:35886001 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:9000726 Bardet-Biedl Syndrome 2/6, Digenic ISO RGD:732435 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic PMID:11285252|PMID:11567139|PMID:15666242|PMID:20120035|PMID:20177705|PMID:20498079|PMID:21344540|PMID:24608809|PMID:25741868|PMID:26518167|PMID:28492532|PMID:30718709 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:9001876 Bardet-Biedl Syndrome 2/4, Digenic ISO RGD:732435 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 2/4, digenic PMID:11567139|PMID:20498079|PMID:25741868|PMID:26355662|PMID:27894351|PMID:28492532|PMID:33777945|PMID:33921607 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:9003383 Bardet-Biedl Syndrome 1/2, Digenic ISO RGD:732435 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic PMID:11285252|PMID:11567139|PMID:19402160|PMID:20177705|PMID:20498079|PMID:21344540|PMID:21642631|PMID:22410627|PMID:23829372|PMID:24608809|PMID:25541840|PMID:25741868|PMID:26518167|PMID:28492532|PMID:34906470 9054350 Bbs2 Bardet-Biedl syndrome 2 gene DOID:9970 obesity susceptibility ISO RGD:732435 D RGD:9068941 20200609 RGD DNA:SNPs PMID:17003356|REF_RGD_ID:1601311 9054371 Ppp1r13b protein phosphatase 1 regulatory subunit 13B gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1312214 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 9054371 Ppp1r13b protein phosphatase 1 regulatory subunit 13B gene DOID:630 genetic disease ISO RGD:1312214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054371 Ppp1r13b protein phosphatase 1 regulatory subunit 13B gene DOID:9007491 Childhood Schizophrenia ISO RGD:1312214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Childhood-onset schizophrenia PMID:26508570 9054396 Fbxw4 F-box and WD repeat domain containing 4 gene DOID:0090020 split hand-foot malformation ISO RGD:1603710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ectrodactyly PMID:21681106 9054396 Fbxw4 F-box and WD repeat domain containing 4 gene DOID:0090025 split hand-foot malformation 3 ISO RGD:1603710 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 3 PMID:28492532 9054396 Fbxw4 F-box and WD repeat domain containing 4 gene DOID:630 genetic disease ISO RGD:1603710 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9054409 Mul1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:0060369 Parkinson's disease 6 ISO RGD:1606503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 9054409 Mul1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1606503 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 9054409 Mul1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1606503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 9054409 Mul1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:630 genetic disease ISO RGD:1606503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054409 Mul1 mitochondrial E3 ubiquitin protein ligase 1 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1606503 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9054417 Unc45a unc-45 myosin chaperone A gene DOID:0111352 D-2-hydroxyglutaric aciduria 2 ISO RGD:1603630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 PMID:28492532 9054417 Unc45a unc-45 myosin chaperone A gene DOID:13250 diarrhea ISO RGD:1603630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:25741868 9054417 Unc45a unc-45 myosin chaperone A gene DOID:2717 Bloom syndrome ISO RGD:1603630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9054417 Unc45a unc-45 myosin chaperone A gene DOID:630 genetic disease ISO RGD:1603630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9054417 Unc45a unc-45 myosin chaperone A gene DOID:6691 Aagenaes syndrome ISO RGD:1603630 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type PMID:25741868 9054417 Unc45a unc-45 myosin chaperone A gene DOID:9004291 Osteootohepatoenteric Syndrome ISO RGD:1603630 D RGD:7240710 20210616 OMIM 9054417 Unc45a unc-45 myosin chaperone A gene DOID:9004291 Osteootohepatoenteric Syndrome ISO RGD:1603630 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Osteootohepatoenteric syndrome PMID:25741868|PMID:28492532|PMID:29429573|PMID:31231135 9054468 Vrk3 VRK serine/threonine kinase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1558006 D RGD:9068941 20220825 MouseDO 9054468 Vrk3 VRK serine/threonine kinase 3 gene DOID:630 genetic disease ISO RGD:1350616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054498 Herc3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 gene DOID:630 genetic disease ISO RGD:1351757 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054498 Herc3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1351757 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 9054498 Herc3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 gene DOID:9007188 Liver Neoplasms ISO RGD:1351757 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 9054534 Padi1 peptidyl arginine deiminase 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1344006 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9054534 Padi1 peptidyl arginine deiminase 1 gene DOID:630 genetic disease ISO RGD:1344006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:3708 D RGD:9068941 20200609 RGD protein:altered expression:renal cortex, brush border membrane (rat) PMID:20466874|REF_RGD_ID:7243098 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:736512 D RGD:9068941 20200609 RGD PMID:19515808|PMID:9560283|REF_RGD_ID:7242939|REF_RGD_ID:7243007 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0050336 hypophosphatemia ISO RGD:736512 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (mouse) PMID:19933269|REF_RGD_ID:7242942 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0050459 hyperphosphatemia ISO RGD:736512 D RGD:9068941 20200609 RGD PMID:20418498|REF_RGD_ID:7243099 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0050459 hyperphosphatemia ISO RGD:736512 D RGD:9068941 20200609 RGD protein:increased expression:kidney (mouse) PMID:18835926|REF_RGD_ID:7242940 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:733686 D RGD:9068941 20200609 RGD DNA:deletions, snps:multiple (human) PMID:16358215|REF_RGD_ID:7242925 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:736512 D RGD:9068941 20200609 RGD PMID:19570882|REF_RGD_ID:7242924 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria ISO RGD:736512 D RGD:9068941 20220825 MouseDO OMIM:241530 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0060002 C1 inhibitor deficiency ISO RGD:733686 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: C1 ESTERASE INHIBITOR DEFICIENCY PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0060903 thrombosis ISO RGD:733686 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0080006 bone development disease ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:733686 D RGD:7240710 20180130 OMIM 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 ISO RGD:733686 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 PMID:12324554|PMID:14672348|PMID:16199547|PMID:16688119|PMID:17576681|PMID:21597970|PMID:24033266|PMID:25050900|PMID:25082825|PMID:25296721|PMID:25741868|PMID:26047794|PMID:26272126|PMID:26787776|PMID:27378183|PMID:28492532|PMID:28893421|PMID:29924459|PMID:29959532|PMID:30778725|PMID:30943683|PMID:31672324|PMID:33099630|PMID:33226606|PMID:33536578|PMID:34805638|PMID:9536098 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis ISO RGD:733686 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic PMID:24033266|PMID:25050900|PMID:25741868|PMID:28492532|PMID:30943683 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:733686 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0080758 Fanconi renotubular syndrome 2 ISO RGD:733686 D RGD:7240710 20190327 OMIM 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0080758 Fanconi renotubular syndrome 2 ISO RGD:733686 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi renotubular syndrome 2 PMID:20335586|PMID:24033266|PMID:25741868|PMID:26047794|PMID:26787776|PMID:2842681|PMID:28492532|PMID:35738466 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0080939 hereditary angioedema type I ISO RGD:733686 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE I PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:0080940 hereditary angioedema type III ISO RGD:733686 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary angioedema, type III PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:10283 prostate cancer ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:1062 Fanconi syndrome ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:1062 Fanconi syndrome ISO RGD:733686 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2061_2081dup (human) PMID:20335586|REF_RGD_ID:7242923 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:11111 hydronephrosis ISO RGD:736512 D RGD:9068941 20200609 RGD DNA:missense mutations:exon:p.A499V, p.V528M (mouse) PMID:18550648|REF_RGD_ID:7243122 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:1227 neutropenia ISO RGD:733686 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia PMID:28492532 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:12678 hypercalcemia ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:733686 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:16199547|PMID:16688119|PMID:25741868|PMID:26047794|PMID:28492532|PMID:28893421|PMID:29959532 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:1459 hypothyroidism ISO RGD:3708 D RGD:9068941 20200609 RGD protein:decreased expression:renal cortex, brush border membrane (rat) PMID:17409279|REF_RGD_ID:7243134 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:14735 hereditary angioedema ISO RGD:733686 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary angioneurotic edema PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25050900|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532|PMID:30943683 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:14748 Sotos syndrome ISO RGD:733686 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:2231 factor XII deficiency ISO RGD:733686 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Factor 12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease PMID:10984376|PMID:16638441|PMID:17186468|PMID:17825897|PMID:19178938|PMID:19474702|PMID:20490261|PMID:22920075|PMID:24033266|PMID:25050900|PMID:25741868|PMID:25744496|PMID:25790805|PMID:27130860|PMID:28492532|PMID:30943683 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:3021 acute kidney failure disease_progression ISO RGD:736512 D RGD:9068941 20200609 RGD associated with Sepsis; protein:decreased expression:renal proximal tubule (mouse) PMID:19729856|REF_RGD_ID:7242943 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:736512 D RGD:9068941 20200609 RGD protein:decreased expression:kidney, brush border membrane (mouse) PMID:19193726|REF_RGD_ID:7242947 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:585 nephrolithiasis ISO RGD:733686 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Nephrolithiasis PMID:25741868|PMID:28492532|PMID:28893421 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:585 nephrolithiasis onset ISO RGD:736512 D RGD:9068941 20200609 RGD associated with Hyperoxaluria PMID:18337544|REF_RGD_ID:7243005 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:630 genetic disease ISO RGD:733686 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12324554|PMID:25741868|PMID:28492532 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:783 end stage renal disease ISO RGD:3708 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal cortex (rat) PMID:15452708|REF_RGD_ID:7242930 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:784 chronic kidney disease ISO RGD:3708 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (rat) PMID:21826734|REF_RGD_ID:7242935 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:784 chronic kidney disease ISO RGD:733686 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS9+122A>G rs6420094 (human) PMID:20383146|REF_RGD_ID:7243100 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:7998 hyperthyroidism ISO RGD:3708 D RGD:9068941 20200609 RGD protein:increased expression:renal cortex, brush border membrane (rat) PMID:10098486|REF_RGD_ID:7243131 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:3708 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:renal cortex (rat) PMID:11004225|REF_RGD_ID:7242933 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:9000264 Hypercalcemia, Infantile, 2 ISO RGD:733686 D RGD:7240710 20190315 OMIM 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:9000264 Hypercalcemia, Infantile, 2 ISO RGD:733686 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 PMID:16199547|PMID:16688119|PMID:17576681|PMID:20466674|PMID:21597970|PMID:24033266|PMID:25296721|PMID:25741868|PMID:26047794|PMID:26787776|PMID:28492532|PMID:28893421|PMID:29924459|PMID:29959532|PMID:31672324|PMID:33099630|PMID:33226606|PMID:33536578|PMID:34805638|PMID:9536098 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:9001738 Hypercalciuria ISO RGD:733686 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9560283 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:9001738 Hypercalciuria ISO RGD:736512 D RGD:9068941 20200609 RGD PMID:21784483|REF_RGD_ID:7242936 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:9002802 Acidoses ISO RGD:3708 D RGD:9068941 20200609 RGD protein:altered expression:kidney, brush border membrane (rat) PMID:19439519|REF_RGD_ID:7242944 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:9002802 Acidoses ISO RGD:736512 D RGD:9068941 20200609 RGD mRNA:decreased expression:kidney (mouse) PMID:18535837|REF_RGD_ID:7242948 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:9004009 Reperfusion Injury ISO RGD:3708 D RGD:9068941 20200609 RGD protein:decreased expression:renal proximal tubule PMID:15775707|REF_RGD_ID:2311304 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:9005216 Infantile Hypercalcemia ISO RGD:733686 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypercalcemia, infantile PMID:24033266|PMID:25741868 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:9005267 Potassium Deficiency ISO RGD:3708 D RGD:9068941 20200609 RGD protein:decreased expression:renal cortex, brush border membrane (rat) PMID:15355967|REF_RGD_ID:7243096 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:3708 D RGD:9068941 20200609 RGD protein:decreased expression:renal proximal tubule, brush border membrane (rat) PMID:15775707|REF_RGD_ID:2311304 9054560 Slc34a1 solute carrier family 34 member 1 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:733686 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9054600 Zfyve19 zinc finger FYVE-type containing 19 gene DOID:2717 Bloom syndrome ISO RGD:1345411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9054600 Zfyve19 zinc finger FYVE-type containing 19 gene DOID:630 genetic disease ISO RGD:1345411 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054600 Zfyve19 zinc finger FYVE-type containing 19 gene DOID:9002381 Progressive Familial Intrahepatic Cholestasis 9 ISO RGD:1345411 D RGD:7240710 20220518 OMIM 9054600 Zfyve19 zinc finger FYVE-type containing 19 gene DOID:9002381 Progressive Familial Intrahepatic Cholestasis 9 ISO RGD:1345411 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 9 PMID:32737136|PMID:33853651 9054600 Zfyve19 zinc finger FYVE-type containing 19 gene DOID:9256 colorectal cancer ISO RGD:1345411 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9054629 Sort1 sortilin 1 gene DOID:0080600 COVID-19 ISO RGD:731682 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9054629 Sort1 sortilin 1 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:731682 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 9054629 Sort1 sortilin 1 gene DOID:12849 autistic disorder ISO RGD:731682 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9054629 Sort1 sortilin 1 gene DOID:1287 cardiovascular system disease ISO RGD:731682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25805502 9054629 Sort1 sortilin 1 gene DOID:13580 cholestasis ISO RGD:731682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28453831 9054629 Sort1 sortilin 1 gene DOID:3393 coronary artery disease ISO RGD:731682 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:21378990|PMID:34961328 9054629 Sort1 sortilin 1 gene DOID:409 liver disease ISO RGD:731682 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28453831 9054629 Sort1 sortilin 1 gene DOID:630 genetic disease ISO RGD:731682 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054629 Sort1 sortilin 1 gene DOID:7693 abdominal aortic aneurysm ISO RGD:731682 D RGD:9068941 20231214 RGD DNA:SNP:CDS:rs599839 (human) PMID:28698188|REF_RGD_ID:401938619 9054659 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1320142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9054659 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:14365 systemic primary carnitine deficiency disease ISO RGD:1320142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:20574985|PMID:28492532 9054659 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:5419 schizophrenia ISO RGD:1320142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9054659 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1320142 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054659 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9000065 Myopia 25, Autosomal Dominant ISO RGD:1320142 D RGD:7240710 20190315 OMIM 9054659 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9000065 Myopia 25, Autosomal Dominant ISO RGD:1320142 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopia 25, autosomal dominant PMID:25741866|PMID:25741868|PMID:28492532 9054659 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320142 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9054659 P4ha2 prolyl 4-hydroxylase subunit alpha 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1320142 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9054681 Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 gene DOID:0090128 Carvajal syndrome ISO RGD:1319128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:28492532 9054681 Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1319128 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 9054681 Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 gene DOID:630 genetic disease ISO RGD:1319128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054694 LOC102027539 chromosome unknown open reading frame, human C11orf86 gene DOID:1059 intellectual disability ISO RGD:2298933 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9054694 LOC102027539 chromosome unknown open reading frame, human C11orf86 gene DOID:630 genetic disease ISO RGD:2298933 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054694 LOC102027539 chromosome unknown open reading frame, human C11orf86 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:2298933 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9054694 LOC102027539 chromosome unknown open reading frame, human C11orf86 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:2298933 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:620300 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25263431|REF_RGD_ID:15045610 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:620300 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (rat) PMID:23117815|REF_RGD_ID:15045604 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:0090019 sitosterolemia ISO RGD:732770 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:11099417|PMID:11264985|PMID:11452359|PMID:11893785|PMID:12124998|PMID:15054092|PMID:15375183|PMID:15996216|PMID:16029460|PMID:16199547|PMID:17632509|PMID:20854103|PMID:21039838|PMID:21274884|PMID:22898925|PMID:23241408|PMID:23685560|PMID:24033266|PMID:24657386|PMID:25073796|PMID:25741868|PMID:28492532|PMID:28521186|PMID:28739549|PMID:29590070|PMID:30545335|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32702746|PMID:33228147|PMID:33269076|PMID:34650182|PMID:34969652|PMID:3706300|PMID:4360855|PMID:6110091 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:1168 familial hyperlipidemia susceptibility ISO RGD:732770 D RGD:9068941 20200609 RGD sitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A PMID:12671028|REF_RGD_ID:1601097 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:13580 cholestasis ISO RGD:620300 D RGD:9068941 20200609 RGD PMID:16764892|REF_RGD_ID:1598662 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:1588 thrombocytopenia ISO RGD:732770 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28492532|PMID:32935436 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:1909 melanoma ISO RGD:732770 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:11452359|PMID:24657386|PMID:28492532|PMID:34969652 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:1936 atherosclerosis treatment ISO RGD:732771 D RGD:9068941 20230930 RGD PMID:29593532|REF_RGD_ID:401827839 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:2213 hemorrhagic disease ISO RGD:732770 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:28492532|PMID:32935436 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:2349 arteriosclerosis susceptibility ISO RGD:732770 D RGD:9068941 20200609 RGD PMID:11099417|REF_RGD_ID:1300331 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:3393 coronary artery disease ISO RGD:732770 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Premature coronary artery atherosclerosis PMID:25741868 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:3883 Lynch syndrome ISO RGD:732770 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:589 congenital hemolytic anemia ISO RGD:732770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:630 genetic disease ISO RGD:732770 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29353225 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9000528 Coronary Disease ISO RGD:732770 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9000808 Hypercholesterolemia ISO RGD:732770 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.M429V PMID:15816807|REF_RGD_ID:1601094 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9001723 Sitosterolemia 2 ISO RGD:732770 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11893785|PMID:17632509|PMID:21039838|PMID:21274884|PMID:22898925|PMID:25741868|PMID:28492532 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9002547 Sitosterolemia 1 ISO RGD:732770 D RGD:7240710 20191127 OMIM 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9002547 Sitosterolemia 1 ISO RGD:732770 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ABCG8-related condition | ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11099417|PMID:11264985|PMID:11452359|PMID:11893785|PMID:12124998|PMID:15054092|PMID:15375183|PMID:15816807|PMID:15996216|PMID:16029460|PMID:16199547|PMID:16472606|PMID:17576681|PMID:17632509|PMID:20854103|PMID:21039838|PMID:21274884|PMID:22898925|PMID:22981120|PMID:23241408|PMID:23685560|PMID:24166850|PMID:24497850|PMID:24657386|PMID:25073796|PMID:25110228|PMID:25741868|PMID:28492532|PMID:28521186|PMID:28739549|PMID:29169939|PMID:29353225|PMID:29590070|PMID:29886606|PMID:30007774|PMID:30241732|PMID:30333156|PMID:30459115|PMID:30545335|PMID:30968598|PMID:31327807|PMID:32041611|PMID:32088153|PMID:32166861|PMID:32275988|PMID:32702746|PMID:32862661|PMID:32935436|PMID:33228147|PMID:33269076|PMID:34426522|PMID:34650182|PMID:34969652|PMID:35248527|PMID:35549507|PMID:3706300|PMID:4360855|PMID:6110091|PMID:9536098 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9005000 Gallbladder Disease 4 ISO RGD:732770 D RGD:7240710 20180130 OMIM 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9005000 Gallbladder Disease 4 ISO RGD:732770 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gallbladder disease 4 PMID:11099417|PMID:11452359|PMID:11893785|PMID:12124998|PMID:15054092|PMID:15375183|PMID:16029460|PMID:17632509|PMID:20854103|PMID:21039838|PMID:21274884|PMID:22898925|PMID:23685560|PMID:24497850|PMID:24657386|PMID:25741868|PMID:28492532|PMID:28521186|PMID:29590070|PMID:30241732|PMID:32041611|PMID:32088153|PMID:32702746|PMID:33228147|PMID:33269076|PMID:34650182|PMID:4360855 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620300 D RGD:9068941 20200609 RGD PMID:14618236|REF_RGD_ID:1558629 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9006113 Gallstones ISO RGD:732770 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17632509 9054702 Abcg8 ATP binding cassette subfamily G member 8 gene DOID:9970 obesity ISO RGD:732770 D RGD:9068941 20200609 RGD PMID:15331430|REF_RGD_ID:1601095 9054726 Tbx5 T-box transcription factor 5 gene DOID:0050651 atrioventricular septal defect ISO RGD:1313887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AVC DEFECT PMID:25741868 9054726 Tbx5 T-box transcription factor 5 gene DOID:0060224 atrial fibrillation ISO RGD:1313887 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892015|PMID:30061737 9054726 Tbx5 T-box transcription factor 5 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1313887 D RGD:7240710 20180130 OMIM 9054726 Tbx5 T-box transcription factor 5 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1313887 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Holt-Oram syndrome | ClinVar Annotator: match by term: TBX5-related condition PMID:10077612|PMID:10077762|PMID:10842287|PMID:11183182|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12624158|PMID:12789647|PMID:12818525|PMID:14402857|PMID:15096952|PMID:15355425|PMID:15710732|PMID:16183809|PMID:16199547|PMID:16380715|PMID:16917909|PMID:17534187|PMID:17576681|PMID:18451335|PMID:18706711|PMID:19648116|PMID:20450920|PMID:20519243|PMID:2070544|PMID:21270786|PMID:21637475|PMID:21716271|PMID:21897873|PMID:22333898|PMID:23698643|PMID:24033266|PMID:24664498|PMID:25216260|PMID:25260786|PMID:25263169|PMID:25326637|PMID:25623069|PMID:25680289|PMID:25741868|PMID:25931334|PMID:25974703|PMID:26219450|PMID:26401820|PMID:26490186|PMID:26762269|PMID:26859351|PMID:26938784|PMID:27981572|PMID:28492532|PMID:28855715|PMID:29755943|PMID:30143665|PMID:30552424|PMID:31215120|PMID:32236096|PMID:34917776|PMID:8911604|PMID:8988164|PMID:8988165|PMID:9536098 9054726 Tbx5 T-box transcription factor 5 gene DOID:0080334 aortic valve disease 2 ISO RGD:1313887 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:10077612|PMID:10077762|PMID:11183182|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12789647|PMID:14402857|PMID:15096952|PMID:15355425|PMID:15710732|PMID:16183809|PMID:16199547|PMID:16332960|PMID:16380715|PMID:16917909|PMID:17534187|PMID:17576681|PMID:18451335|PMID:18706711|PMID:19648116|PMID:20450920|PMID:20519243|PMID:2070544|PMID:21270786|PMID:21637475|PMID:21716271|PMID:21897873|PMID:23698643|PMID:24033266|PMID:24664498|PMID:25216260|PMID:25260786|PMID:25263169|PMID:25326637|PMID:25500235|PMID:25623069|PMID:25640679|PMID:25680289|PMID:25741868|PMID:25931334|PMID:25974703|PMID:26219450|PMID:26401820|PMID:26490186|PMID:26762269|PMID:26859351|PMID:27981572|PMID:28492532|PMID:28855715|PMID:30143665|PMID:30538526|PMID:30552424|PMID:31215120|PMID:31983221|PMID:32236096|PMID:34917776|PMID:8911604|PMID:8988164|PMID:8988165|PMID:9536098 9054726 Tbx5 T-box transcription factor 5 gene DOID:0110106 atrial heart septal defect 1 ISO RGD:1313887 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Atrial septal defect 1 9054726 Tbx5 T-box transcription factor 5 gene DOID:12930 dilated cardiomyopathy ISO RGD:1313887 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16183809|PMID:16917909|PMID:17534187|PMID:25741868|PMID:28492532 9054726 Tbx5 T-box transcription factor 5 gene DOID:13620 patent foramen ovale ISO RGD:1313887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type PMID:25741868|PMID:29555671 9054726 Tbx5 T-box transcription factor 5 gene DOID:1682 congenital heart disease ISO RGD:1313887 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:10077612|PMID:10077762|PMID:12499378|PMID:12789647|PMID:16380715|PMID:20519243|PMID:25216260|PMID:25931334|PMID:28492532|PMID:34917776 9054726 Tbx5 T-box transcription factor 5 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1313887 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868 9054726 Tbx5 T-box transcription factor 5 gene DOID:5844 myocardial infarction treatment ISO RGD:1305702 D RGD:9068941 20200609 RGD PMID:23948075|REF_RGD_ID:7327215 9054726 Tbx5 T-box transcription factor 5 gene DOID:630 genetic disease ISO RGD:1313887 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077612|PMID:12789647|PMID:14402857|PMID:15710732|PMID:16183809|PMID:16917909|PMID:17534187|PMID:2070544|PMID:25680289|PMID:25741868|PMID:28492532|PMID:8911604|PMID:8988164 9054726 Tbx5 T-box transcription factor 5 gene DOID:8466 retinal degeneration ISO RGD:1305702 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:increased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 9054726 Tbx5 T-box transcription factor 5 gene DOID:9003748 Thumb Deformity ISO RGD:1313887 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thumb deformity 9054726 Tbx5 T-box transcription factor 5 gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:1305702 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:increased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 9054750 Slc29a4 solute carrier family 29 member 4 gene DOID:11372 megacolon ISO RGD:1321510 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9054750 Slc29a4 solute carrier family 29 member 4 gene DOID:630 genetic disease ISO RGD:1321510 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:0070340 classic citrullinemia ISO RGD:1323000 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I PMID:10369257|PMID:14680984|PMID:16199547|PMID:23022256|PMID:23053473|PMID:23067347|PMID:24069319|PMID:24586645|PMID:25216257|PMID:25741868|PMID:27405544|PMID:28492532|PMID:30887117|PMID:31180159|PMID:31450232|PMID:34045052|PMID:34704407|PMID:34800434|PMID:35798653|PMID:36599957 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:0070341 neonatal-onset type II citrullinemia ISO RGD:1323000 D RGD:7240710 20180130 OMIM 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:0070341 neonatal-onset type II citrullinemia ISO RGD:1323000 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neonatal intrahepatic cholestasis caused by citrin deficiency | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 | ClinVar Annotator: match by term: Neonatal-onset citrullinemia type II | ClinVar Annotator: match by term: SLC25A13-related condition PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11343053|PMID:11432966|PMID:11793471|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18367750|PMID:18392553|PMID:18487280|PMID:19036621|PMID:19413723|PMID:19470249|PMID:20301360|PMID:20927635|PMID:21134364|PMID:21424115|PMID:21507300|PMID:21979481|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:23701493|PMID:23901231|PMID:24069319|PMID:24161253|PMID:24327139|PMID:24586645|PMID:25110155|PMID:25216257|PMID:25741868|PMID:26852511|PMID:26858187|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:27829683|PMID:28492532|PMID:29651749|PMID:29659898|PMID:30098237|PMID:30887117|PMID:30904546|PMID:31180159|PMID:31450232|PMID:31845334|PMID:32962675|PMID:33497767|PMID:33763395|PMID:34006251|PMID:34045052|PMID:34295780|PMID:34704407|PMID:34800434|PMID:35142380|PMID:35798653|PMID:36599957|PMID:8105687|PMID:9536098 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:0070342 adult-onset type II citrullinemia ISO RGD:1323000 D RGD:7240710 20180130 OMIM 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:0070342 adult-onset type II citrullinemia ISO RGD:1323000 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adult-onset citrullinemia type 2 | ClinVar Annotator: match by term: Citrin deficiency | ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset | ClinVar Annotator: match by term: Late-onset citrullinemia PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11343053|PMID:11432966|PMID:11793471|PMID:12409267|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16311094|PMID:16449956|PMID:17576681|PMID:17880783|PMID:17982687|PMID:18392553|PMID:18487280|PMID:18578996|PMID:19036621|PMID:19185551|PMID:19413723|PMID:19470249|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21134364|PMID:21424115|PMID:21507300|PMID:21914561|PMID:21979481|PMID:22575253|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:23701493|PMID:23901231|PMID:24069319|PMID:24161253|PMID:24586645|PMID:25110155|PMID:25216257|PMID:25365849|PMID:25381944|PMID:25640679|PMID:25741868|PMID:26852511|PMID:26858187|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:27706244|PMID:27779681|PMID:28492532|PMID:29376577|PMID:29651749|PMID:29659898|PMID:29787821|PMID:30098237|PMID:30703226|PMID:30887117|PMID:30904546|PMID:31180159|PMID:31450232|PMID:31607264|PMID:31845334|PMID:31980526|PMID:32962675|PMID:33497767|PMID:33627582|PMID:33763395|PMID:34006251|PMID:34045052|PMID:34295780|PMID:34704407|PMID:34800434|PMID:35142380|PMID:35798653|PMID:36599957|PMID:8105687|PMID:9536098 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1323000 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM PMID:21507300|PMID:23053473|PMID:24069319|PMID:25741868|PMID:28492532 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:11372 megacolon ISO RGD:1323000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323000 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:630 genetic disease ISO RGD:1323000 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18367750|PMID:18392553|PMID:25741868|PMID:27829683|PMID:28492532|PMID:36599957 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1323000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:9002589 Bone Fractures ISO RGD:1323000 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:9009138 Citrullinemia Type 2 ISO RGD:1323000 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Citrullinemia type 2 | ClinVar Annotator: match by term: Citrullinemia type II PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11343053|PMID:11432966|PMID:11793471|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18367750|PMID:18392553|PMID:19036621|PMID:19413723|PMID:19470249|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21134364|PMID:21424115|PMID:21507300|PMID:22575253|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:23901231|PMID:24069319|PMID:24161253|PMID:24586645|PMID:25216257|PMID:25365849|PMID:25741868|PMID:26852511|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:27706244|PMID:27829683|PMID:28492532|PMID:29376577|PMID:29659898|PMID:29787821|PMID:30098237|PMID:30887117|PMID:30904546|PMID:31180159|PMID:31450232|PMID:32962675|PMID:33763395|PMID:34006251|PMID:34045052|PMID:34295780|PMID:34704407|PMID:34800434|PMID:35142380|PMID:35798653|PMID:36599957|PMID:8105687|PMID:9536098 9054769 Slc25a13 solute carrier family 25 member 13 gene DOID:9273 citrullinemia ISO RGD:1323000 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinuria PMID:10369257|PMID:11153906|PMID:11343052|PMID:11793471|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16199547|PMID:16449956|PMID:17576681|PMID:18367750|PMID:18392553|PMID:19036621|PMID:19185551|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21424115|PMID:23053473|PMID:23701493|PMID:24069319|PMID:25110155|PMID:25741868|PMID:26858187|PMID:27405544|PMID:27829683|PMID:28492532|PMID:29659898|PMID:31450232|PMID:31845334|PMID:34006251|PMID:36599957|PMID:9536098 9054803 Rfc1 replication factor C subunit 1 gene DOID:0050753 cerebellar ataxia ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926972 9054803 Rfc1 replication factor C subunit 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1353491 D RGD:9068941 20240104 RGD mRNA:increased expression:lung (human) PMID:37410515|REF_RGD_ID:401940160 9054803 Rfc1 replication factor C subunit 1 gene DOID:1682 congenital heart disease susceptibility ISO RGD:1353491 D RGD:9068941 20240104 RGD DNA:SNPs, haplotype:multiple (human) PMID:24585533|REF_RGD_ID:401940163 9054803 Rfc1 replication factor C subunit 1 gene DOID:2366 West Nile fever susceptibility ISO RGD:1353491 D RGD:9068941 20210212 RGD DNA:silent mutation:CDS:p.P847P (rs2066786) (human) PMID:21881118|REF_RGD_ID:41410434 9054803 Rfc1 replication factor C subunit 1 gene DOID:2477 motor peripheral neuropathy ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926972 9054803 Rfc1 replication factor C subunit 1 gene DOID:3347 osteosarcoma ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19159907 9054803 Rfc1 replication factor C subunit 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1353491 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9054803 Rfc1 replication factor C subunit 1 gene DOID:630 genetic disease ISO RGD:1353491 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054803 Rfc1 replication factor C subunit 1 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1353491 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 9054803 Rfc1 replication factor C subunit 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18926688 9054803 Rfc1 replication factor C subunit 1 gene DOID:9006102 Right Ventricular Hypertrophy ISO RGD:620619 D RGD:9068941 20240104 RGD protein:increased expression:heart right ventricle (rat) PMID:22720015|REF_RGD_ID:401940165 9054803 Rfc1 replication factor C subunit 1 gene DOID:9006473 Bilateral Vestibulopathy ISO RGD:1353491 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30926972 9054803 Rfc1 replication factor C subunit 1 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1353491 D RGD:7240710 20190515 OMIM 9054803 Rfc1 replication factor C subunit 1 gene DOID:9009139 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome ISO RGD:1353491 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome PMID:25741868|PMID:35883251|PMID:36478048 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:735743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:0050558 Ullrich congenital muscular dystrophy ISO RGD:735743 D RGD:8554872 20230627 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy PMID:25741868|PMID:28492532 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:0050663 Bethlem myopathy ISO RGD:735743 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bethlem myopathy PMID:25741868|PMID:28492532 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:0110250 cataract 16 multiple types ISO RGD:735743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 16 multiple types PMID:25741868|PMID:28492532 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:1790 malignant mesothelioma ISO RGD:735743 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:630 genetic disease ISO RGD:735743 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24334604|PMID:25741868|PMID:27348394|PMID:28492532|PMID:28973083 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:9000534 Ullrich Congenital Muscular Dystrophy 1 ISO RGD:735743 D RGD:8554872 20230627 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:16199547|PMID:24334604|PMID:28492532|PMID:28973083 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735743 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:9002723 Ullrich Congenital Muscular Dystrophy 2 ISO RGD:735743 D RGD:7240710 20180130 OMIM 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:9002723 Ullrich Congenital Muscular Dystrophy 2 ISO RGD:735743 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: COL12A1- Related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 PMID:10612821|PMID:16199547|PMID:17576681|PMID:19344236|PMID:224334604|PMID:24334604|PMID:24334769|PMID:25741868|PMID:26362251|PMID:27159402|PMID:27348394|PMID:28492532|PMID:28973083|PMID:29342313|PMID:29858556|PMID:31127727|PMID:31273343|PMID:33146414|PMID:35903967|PMID:7695699|PMID:8218237|PMID:8601036|PMID:9536098 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735743 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:9006278 Bethlem Myopathy 2 ISO RGD:735743 D RGD:7240710 20180130 OMIM 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:9006278 Bethlem Myopathy 2 ISO RGD:735743 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 2 | ClinVar Annotator: match by term: COL12A1-related condition PMID:24334604|PMID:24334769|PMID:25741868|PMID:27348394|PMID:28492532|PMID:28973083|PMID:29858556|PMID:35019233 9054837 Col12a1 collagen type XII alpha 1 chain gene DOID:9008086 Developmental Disabilities ISO RGD:735743 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9054907 Pigt phosphatidylinositol glycan anchor biosynthesis class T gene DOID:0060284 paroxysmal nocturnal hemoglobinuria ISO RGD:1316180 D RGD:9068941 20220728 CTD CTD Direct Evidence: marker/mechanism PMID:25417052 9054907 Pigt phosphatidylinositol glycan anchor biosynthesis class T gene DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 ISO RGD:1316180 D RGD:7240710 20180130 OMIM 9054907 Pigt phosphatidylinositol glycan anchor biosynthesis class T gene DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 ISO RGD:1316180 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder PMID:16199547|PMID:17576681|PMID:23636107|PMID:24906948|PMID:25741868|PMID:25943031|PMID:27916860|PMID:28327575|PMID:28492532|PMID:28728837|PMID:29868109|PMID:30049826|PMID:30813157|PMID:30976099|PMID:31130284|PMID:32220244|PMID:32404165|PMID:32581362|PMID:32725661|PMID:34046058|PMID:36177944|PMID:9536098|PMID:9934988 9054907 Pigt phosphatidylinositol glycan anchor biosynthesis class T gene DOID:1826 epilepsy ISO RGD:1316180 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:27916860|PMID:30976099|PMID:32581362 9054907 Pigt phosphatidylinositol glycan anchor biosynthesis class T gene DOID:2234 focal epilepsy ISO RGD:1316180 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9054907 Pigt phosphatidylinositol glycan anchor biosynthesis class T gene DOID:630 genetic disease ISO RGD:1316180 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25943031|PMID:27916860|PMID:28492532|PMID:30976099|PMID:32581362 9054907 Pigt phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1316180 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 9054907 Pigt phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9002189 High Myopia ISO RGD:1316180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia PMID:28492532 9054907 Pigt phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9004285 Paroxysmal Nocturnal Hemoglobinuria 1 ISO RGD:1316180 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 PMID:25741868 9054907 Pigt phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9008086 Developmental Disabilities ISO RGD:1316180 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:27916860|PMID:30976099|PMID:32581362 9054907 Pigt phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9008263 Paroxysmal Nocturnal Hemoglobinuria 2 ISO RGD:1316180 D RGD:7240710 20180130 OMIM 9054907 Pigt phosphatidylinositol glycan anchor biosynthesis class T gene DOID:9008263 Paroxysmal Nocturnal Hemoglobinuria 2 ISO RGD:1316180 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2 PMID:23733340|PMID:25741868|PMID:28492532 9054942 LOC102007956 chromosome unknown open reading frame, human C18orf21 gene DOID:1059 intellectual disability ISO RGD:1347622 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:0060041 autism spectrum disorder ISO RGD:735326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:0080230 autosomal dominant intellectual developmental disorder 54 ISO RGD:735326 D RGD:7240710 20190315 OMIM 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:0080230 autosomal dominant intellectual developmental disorder 54 ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CAMK2B-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 PMID:25741868|PMID:28492532|PMID:29100089|PMID:29560374|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:1059 intellectual disability ISO RGD:735326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29100089|PMID:32581362|PMID:32875707 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:1059 intellectual disability ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:10907 microcephaly ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:3070 high grade glioma disease_progression ISO RGD:10285 D RGD:9068941 20200609 RGD PMID:15750623|REF_RGD_ID:13702479 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:3181 oligodendroglioma disease_progression ISO RGD:10285 D RGD:9068941 20200609 RGD PMID:15750623|REF_RGD_ID:13702479 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:5062 phencyclidine abuse ISO RGD:735326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:5419 schizophrenia ISO RGD:10284 D RGD:9068941 20200609 RGD PMID:20336626|REF_RGD_ID:9685022 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:5419 schizophrenia ISO RGD:735326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11042361|PMID:20336626 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:543 dystonia ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:630 genetic disease ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:8646 substance-induced psychosis ISO RGD:735326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17603807 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:735326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:9004673 Hearing Loss, Cisplatin-Induced treatment ISO RGD:2262 D RGD:9068941 20200609 RGD PMID:23558232|REF_RGD_ID:9685025 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:9004992 Apnea ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Apnea PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:9006534 Nervous System Malformations ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:9006680 Hyperventilation ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperventilation PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:9008086 Developmental Disabilities ISO RGD:735326 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532|PMID:29100089|PMID:30842224|PMID:31036916|PMID:32581362|PMID:32875707 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:9008582 Developmental Disease ISO RGD:735326 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9054956 Camk2b calcium/calmodulin dependent protein kinase II beta gene DOID:9505 cannabis abuse ISO RGD:735326 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17205118 9054983 Tmem9 transmembrane protein 9 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1317397 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9054983 Tmem9 transmembrane protein 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1317397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9054983 Tmem9 transmembrane protein 9 gene DOID:630 genetic disease ISO RGD:1317397 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054983 Tmem9 transmembrane protein 9 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1317397 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9054983 Tmem9 transmembrane protein 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317397 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9054996 Rln3 relaxin 3 gene DOID:630 genetic disease ISO RGD:1345239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9054996 Rln3 relaxin 3 gene DOID:9002221 Hyperplasia ISO RGD:1345239 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16112403 9054996 Rln3 relaxin 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:1345239 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16112403 9055002 Zg16b zymogen granule protein 16B gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1605005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9055002 Zg16b zymogen granule protein 16B gene DOID:1826 epilepsy ISO RGD:1605005 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9055002 Zg16b zymogen granule protein 16B gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1605005 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9055002 Zg16b zymogen granule protein 16B gene DOID:630 genetic disease ISO RGD:1605005 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055010 Zdhhc20 zinc finger DHHC-type palmitoyltransferase 20 gene DOID:630 genetic disease ISO RGD:1606124 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055028 Tusc3 tumor suppressor candidate 3 gene DOID:0081183 autosomal recessive intellectual developmental disorder 7 ISO RGD:1606831 D RGD:7240710 20180130 OMIM 9055028 Tusc3 tumor suppressor candidate 3 gene DOID:0081183 autosomal recessive intellectual developmental disorder 7 ISO RGD:1606831 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 7 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22 PMID:17576681|PMID:18452889|PMID:18455129|PMID:21681106|PMID:21739581|PMID:23806237|PMID:25626710|PMID:25741868|PMID:27148795|PMID:28492532|PMID:28820871|PMID:32767738|PMID:9536098 9055028 Tusc3 tumor suppressor candidate 3 gene DOID:0081197 autosomal recessive intellectual developmental disorder 24 ISO RGD:1606831 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MRT24 PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:32767738 9055028 Tusc3 tumor suppressor candidate 3 gene DOID:1059 intellectual disability ISO RGD:1606831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:30167849 9055028 Tusc3 tumor suppressor candidate 3 gene DOID:1059 intellectual disability ISO RGD:1606831 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:30167849|PMID:32767738 9055028 Tusc3 tumor suppressor candidate 3 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1606831 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:28820871|PMID:32767738 9055028 Tusc3 tumor suppressor candidate 3 gene DOID:630 genetic disease ISO RGD:1606831 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18455129|PMID:23806237|PMID:25626710|PMID:25741868|PMID:28492532|PMID:28820871|PMID:32767738 9055028 Tusc3 tumor suppressor candidate 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1606831 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9055028 Tusc3 tumor suppressor candidate 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1606831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9055028 Tusc3 tumor suppressor candidate 3 gene DOID:9006534 Nervous System Malformations ISO RGD:1606831 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:21739581|PMID:25741868 9055052 Slc1a7 solute carrier family 1 member 7 gene DOID:0080600 COVID-19 ISO RGD:1323639 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9055052 Slc1a7 solute carrier family 1 member 7 gene DOID:630 genetic disease ISO RGD:1323639 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055067 Sdr16c5 short chain dehydrogenase/reductase family 16C member 5 gene DOID:630 genetic disease ISO RGD:1604728 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055077 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1348189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:21681106 9055077 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0110804 hereditary spastic paraplegia 52 ISO RGD:1348189 D RGD:7240710 20180130 OMIM 9055077 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:0110804 hereditary spastic paraplegia 52 ISO RGD:1348189 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive PMID:17576681|PMID:21620353|PMID:23167973|PMID:24700674|PMID:25552650|PMID:25741868|PMID:26297806|PMID:27444738|PMID:28492532|PMID:28708303|PMID:31660686|PMID:32979048|PMID:9536098 9055077 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:1059 intellectual disability ISO RGD:1348189 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21620353|PMID:25552650|PMID:25741868|PMID:27444738|PMID:28492532|PMID:28708303|PMID:32979048 9055077 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1348189 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:25741868|PMID:26350204|PMID:28492532 9055077 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:607 paraplegia ISO RGD:1348189 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21620353|PMID:23167973|PMID:24700674|PMID:25552650|PMID:25741868|PMID:26297806|PMID:26350204|PMID:26633542|PMID:27444738|PMID:28492532|PMID:28708303|PMID:30283821|PMID:31660686|PMID:31915823|PMID:32979048|PMID:9536098 9055077 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:630 genetic disease ISO RGD:1348189 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26350204|PMID:28492532|PMID:32979048 9055077 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:16199547|PMID:21620353|PMID:25552650|PMID:25741868|PMID:27444738|PMID:28492532 9055077 Ap4s1 adaptor related protein complex 4 subunit sigma 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1348189 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9055088 Rpl32 ribosomal protein L32 gene DOID:630 genetic disease ISO RGD:1347014 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055161 Slc25a12 solute carrier family 25 member 12 gene DOID:0050432 Asperger syndrome susceptibility ISO RGD:1313056 D RGD:9068941 20200609 RGD DNA:SNP: :rs6716901(human) PMID:24679184|REF_RGD_ID:13628740 9055161 Slc25a12 solute carrier family 25 member 12 gene DOID:0060041 autism spectrum disorder ISO RGD:1313056 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 9055161 Slc25a12 solute carrier family 25 member 12 gene DOID:0060041 autism spectrum disorder no_association ISO RGD:1313056 D RGD:9068941 20200609 RGD PMID:17151801|REF_RGD_ID:13628739 9055161 Slc25a12 solute carrier family 25 member 12 gene DOID:0080349 developmental and epileptic encephalopathy 39 ISO RGD:1313056 D RGD:7240710 20180130 OMIM 9055161 Slc25a12 solute carrier family 25 member 12 gene DOID:0080349 developmental and epileptic encephalopathy 39 ISO RGD:1313056 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 | ClinVar Annotator: match by term: Hypomyelination, global cerebral PMID:17576681|PMID:19641205|PMID:24515575|PMID:25741868|PMID:28492532|PMID:31403263|PMID:9536098 9055161 Slc25a12 solute carrier family 25 member 12 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1313056 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 9055161 Slc25a12 solute carrier family 25 member 12 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1313056 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 9055161 Slc25a12 solute carrier family 25 member 12 gene DOID:12849 autistic disorder ISO RGD:1313056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15056512|PMID:18348195 9055161 Slc25a12 solute carrier family 25 member 12 gene DOID:12849 autistic disorder susceptibility ISO RGD:1313056 D RGD:9068941 20200609 RGD DNA:snps:introns:IVS3-21A>G (rs2056202), IVS16+70A>G (rs2292813) (human) PMID:15056512|REF_RGD_ID:1358576 9055161 Slc25a12 solute carrier family 25 member 12 gene DOID:1826 epilepsy ISO RGD:1313056 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 9055161 Slc25a12 solute carrier family 25 member 12 gene DOID:630 genetic disease ISO RGD:1313056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9055161 Slc25a12 solute carrier family 25 member 12 gene DOID:7148 rheumatoid arthritis ISO RGD:1313056 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 9055192 Ankrd17 ankyrin repeat domain 17 gene DOID:1059 intellectual disability ISO RGD:1607057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:33909992 9055192 Ankrd17 ankyrin repeat domain 17 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1607057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lip and oral cavity carcinoma PMID:28580594 9055192 Ankrd17 ankyrin repeat domain 17 gene DOID:630 genetic disease ISO RGD:1607057 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9055192 Ankrd17 ankyrin repeat domain 17 gene DOID:9002816 CHOPRA-AMIEL-GORDON SYNDROME ISO RGD:1607057 D RGD:7240710 20211020 OMIM 9055192 Ankrd17 ankyrin repeat domain 17 gene DOID:9002816 CHOPRA-AMIEL-GORDON SYNDROME ISO RGD:1607057 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Chopra-Amiel-Gordon syndrome PMID:25741868|PMID:28492532|PMID:29758562|PMID:33909992 9055192 Ankrd17 ankyrin repeat domain 17 gene DOID:9005466 Language Development Disorders ISO RGD:1607057 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Speech delay PMID:25741868 9055241 Micall2 MICAL like 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis 9055241 Micall2 MICAL like 2 gene DOID:630 genetic disease ISO RGD:1605936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9055271 Neurod1 neuronal differentiation 1 gene DOID:0050524 maturity-onset diabetes of the young ISO RGD:731467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25741868|PMID:28492532 9055271 Neurod1 neuronal differentiation 1 gene DOID:0110746 type 1 diabetes mellitus 7 ISO RGD:735545 D RGD:9068941 20220825 MouseDO OMIM:600321 9055271 Neurod1 neuronal differentiation 1 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:731467 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545951 9055271 Neurod1 neuronal differentiation 1 gene DOID:0111104 maturity-onset diabetes of the young type 6 ISO RGD:731467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 6 | ClinVar Annotator: match by term: NEUROD1-related condition PMID:10545951|PMID:12639765|PMID:16321269|PMID:18414213|PMID:25041077|PMID:25741868|PMID:27420379|PMID:28095440|PMID:28492532|PMID:28664602|PMID:30191644|PMID:30259503|PMID:34556497 9055271 Neurod1 neuronal differentiation 1 gene DOID:0111104 maturity-onset diabetes of the young type 6 susceptibility ISO RGD:731467 D RGD:7240710 20240313 OMIM 9055271 Neurod1 neuronal differentiation 1 gene DOID:10584 retinitis pigmentosa ISO RGD:731467 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28041643 9055271 Neurod1 neuronal differentiation 1 gene DOID:10603 glucose intolerance susceptibility ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:15277395|REF_RGD_ID:1601481 9055271 Neurod1 neuronal differentiation 1 gene DOID:4195 hyperglycemia ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:mutations:promoter, exon:-1972G>A, p.A322N (human) PMID:18811724|REF_RGD_ID:2313477 9055271 Neurod1 neuronal differentiation 1 gene DOID:630 genetic disease ISO RGD:731467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9055271 Neurod1 neuronal differentiation 1 gene DOID:863 nervous system disease ISO RGD:731467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23203475 9055271 Neurod1 neuronal differentiation 1 gene DOID:9002188 Hypoinsulinemia ISO RGD:731467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypoinsulinemia PMID:12639765|PMID:18414213|PMID:25741868|PMID:27420379|PMID:28492532 9055271 Neurod1 neuronal differentiation 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:731467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16123366 9055271 Neurod1 neuronal differentiation 1 gene DOID:9351 diabetes mellitus ISO RGD:731467 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:12639765|PMID:18414213|PMID:25741868|PMID:27420379|PMID:28492532|PMID:30259503 9055271 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:731467 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: NEUROD1-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10545951|PMID:25741868|PMID:28492532|PMID:28664602|PMID:34556497 9055271 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:15592940|REF_RGD_ID:2313486 9055271 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:16773428|REF_RGD_ID:2313482 9055271 Neurod1 neuronal differentiation 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:731467 D RGD:7240710 20240313 OMIM 9055271 Neurod1 neuronal differentiation 1 gene DOID:9744 type 1 diabetes mellitus ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:16357810|REF_RGD_ID:2313483 9055271 Neurod1 neuronal differentiation 1 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.A45T (human) PMID:15047635|REF_RGD_ID:2313487 9055271 Neurod1 neuronal differentiation 1 gene DOID:9744 type 1 diabetes mellitus no_association ISO RGD:731467 D RGD:9068941 20200609 RGD DNA:polymorphism:exon PMID:16909454|REF_RGD_ID:2313481 9055271 Neurod1 neuronal differentiation 1 gene DOID:9970 obesity ISO RGD:731467 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:15979049|REF_RGD_ID:1625044 9055287 Dcaf17 DDB1 and CUL4 associated factor 17 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1605035 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 9055287 Dcaf17 DDB1 and CUL4 associated factor 17 gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:1605035 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9055287 Dcaf17 DDB1 and CUL4 associated factor 17 gene DOID:0112264 Woodhouse-Sakati syndrome ISO RGD:1605035 D RGD:7240710 20180130 OMIM 9055287 Dcaf17 DDB1 and CUL4 associated factor 17 gene DOID:0112264 Woodhouse-Sakati syndrome ISO RGD:1605035 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Woodhouse-Sakati syndrome PMID:16199547|PMID:17576681|PMID:17710875|PMID:18049083|PMID:18175354|PMID:18414213|PMID:19026396|PMID:20507343|PMID:21044051|PMID:21964978|PMID:24015686|PMID:24088041|PMID:25326637|PMID:25741868|PMID:26612766|PMID:26633545|PMID:26664771|PMID:27489925|PMID:28492532|PMID:29546359|PMID:31323129|PMID:31347785|PMID:35876063|PMID:6876115|PMID:9536098 9055287 Dcaf17 DDB1 and CUL4 associated factor 17 gene DOID:630 genetic disease ISO RGD:1605035 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9055312 Tmod2 tropomodulin 2 gene DOID:0080445 developmental and epileptic encephalopathy 13 ISO RGD:1351754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 9055312 Tmod2 tropomodulin 2 gene DOID:2717 Bloom syndrome ISO RGD:1351754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9055312 Tmod2 tropomodulin 2 gene DOID:607 paraplegia ISO RGD:1351754 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 9055312 Tmod2 tropomodulin 2 gene DOID:630 genetic disease ISO RGD:1351754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055312 Tmod2 tropomodulin 2 gene DOID:9256 colorectal cancer ISO RGD:1351754 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9055335 Fis1 fission, mitochondrial 1 gene DOID:0110721 neuronal ceroid lipofuscinosis 1 ISO RGD:1315413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21224254 9055335 Fis1 fission, mitochondrial 1 gene DOID:10652 Alzheimer's disease ISO RGD:1315413 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (human) PMID:19605646|REF_RGD_ID:7800727 9055335 Fis1 fission, mitochondrial 1 gene DOID:13711 dental fluorosis ISO RGD:1306668 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney (rat) PMID:24958380|REF_RGD_ID:12437081 9055335 Fis1 fission, mitochondrial 1 gene DOID:3021 acute kidney failure ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:26480480|REF_RGD_ID:12910862 9055335 Fis1 fission, mitochondrial 1 gene DOID:4483 rhinitis ISO RGD:1306668 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:nasal cavity mucosa (rat) PMID:28146064|REF_RGD_ID:13204839 9055335 Fis1 fission, mitochondrial 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1315413 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9055335 Fis1 fission, mitochondrial 1 gene DOID:5844 myocardial infarction ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:plantaris (rat) PMID:24427319|REF_RGD_ID:11557988 9055335 Fis1 fission, mitochondrial 1 gene DOID:630 genetic disease ISO RGD:1315413 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055335 Fis1 fission, mitochondrial 1 gene DOID:784 chronic kidney disease treatment ISO RGD:1306668 D RGD:9068941 20200609 RGD PMID:27801955|REF_RGD_ID:12738369 9055335 Fis1 fission, mitochondrial 1 gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:1306668 D RGD:9068941 20200609 RGD PMID:26079325|REF_RGD_ID:12437066 9055335 Fis1 fission, mitochondrial 1 gene DOID:9000310 Lung Injury ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:lung (rat) PMID:25560372|REF_RGD_ID:12437080 9055335 Fis1 fission, mitochondrial 1 gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:1306668 D RGD:9068941 20200609 RGD PMID:25595990|REF_RGD_ID:12437079 9055335 Fis1 fission, mitochondrial 1 gene DOID:9005526 Pulmonary Edema of Mountaineers ISO RGD:1306668 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (rat) PMID:23517027|REF_RGD_ID:12738217 9055335 Fis1 fission, mitochondrial 1 gene DOID:9007174 Ventricular Remodeling ISO RGD:1315413 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20886221 9055335 Fis1 fission, mitochondrial 1 gene DOID:9007588 Heart Injuries ISO RGD:1306668 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart (rat) PMID:25677476|REF_RGD_ID:12437078 9055335 Fis1 fission, mitochondrial 1 gene DOID:9007692 Insulin Resistance ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:24663492|REF_RGD_ID:12453042 9055335 Fis1 fission, mitochondrial 1 gene DOID:9007838 Myocardial Reperfusion Injury ameliorates ISO RGD:1315414 D RGD:9068941 20230429 RGD PMID:30259997|REF_RGD_ID:329337366 9055335 Fis1 fission, mitochondrial 1 gene DOID:9008824 Sarcopenia ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:extensor digitorum longus (rat) PMID:23220115|REF_RGD_ID:12738219 9055335 Fis1 fission, mitochondrial 1 gene DOID:9452 steatotic liver disease ISO RGD:1306668 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:24663492|REF_RGD_ID:12453042 9055344 Rrp9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein gene DOID:630 genetic disease ISO RGD:1317332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055344 Rrp9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein gene DOID:9000217 Stomach Neoplasms ISO RGD:1317332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9055344 Rrp9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein gene DOID:9000918 Disease Progression ISO RGD:1317332 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0050144 Kartagener syndrome ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:16199547|PMID:21131974|PMID:22693285|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31213628|PMID:31443223|PMID:31650533|PMID:31772028|PMID:31879361 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0050439 Usher syndrome ISO RGD:1605992 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0050439 Usher syndrome ISO RGD:1605992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868|PMID:28492532 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0050545 visceral heterotaxy ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0060041 autism spectrum disorder ISO RGD:1605992 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0080545 hyper IgE syndrome ISO RGD:1605992 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive PMID:21131974|PMID:22693285|PMID:23255504|PMID:23891469|PMID:25741868|PMID:28492532 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0080594 hyper IgE recurrent infection syndrome 2 ISO RGD:1605992 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS PMID:21131974|PMID:22693285|PMID:23255504|PMID:23891469|PMID:25741868|PMID:28492532 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0110599 primary ciliary dyskinesia 3 ISO RGD:1605992 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1605992 D RGD:7240710 20180130 OMIM 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:0110623 primary ciliary dyskinesia 15 ISO RGD:1605992 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: CCDC40-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 PMID:16199547|PMID:17576681|PMID:21131974|PMID:22499950|PMID:22693285|PMID:23255504|PMID:23261302|PMID:23891469|PMID:24033266|PMID:25619595|PMID:25741868|PMID:25877373|PMID:26228299|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31443223|PMID:31507630|PMID:31589614|PMID:31650533|PMID:31772028|PMID:31879361|PMID:31980526|PMID:34768622|PMID:37260176|PMID:9536098 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:12336 male infertility ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Male infertility PMID:24033266|PMID:25741868|PMID:28492532 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:2752 glycogen storage disease II ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:630 genetic disease ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:758 situs inversus ISO RGD:1605992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:9001828 Cardiac Form of Generalized Glycogenosis ISO RGD:1605992 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:18414213|PMID:23757202|PMID:24033266|PMID:25741868|PMID:28492532 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:9212 pityriasis rubra pilaris ISO RGD:1605992 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 9055370 Ccdc40 coiled-coil domain 40 molecular ruler complex subunit gene DOID:9562 primary ciliary dyskinesia ISO RGD:1605992 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16199547|PMID:17576681|PMID:18414213|PMID:21131974|PMID:22499950|PMID:22693285|PMID:23255504|PMID:23261302|PMID:23757202|PMID:23891469|PMID:24033266|PMID:24498942|PMID:24518672|PMID:25619595|PMID:25741868|PMID:25877373|PMID:26228299|PMID:28492532|PMID:30067075|PMID:31213628|PMID:31443223|PMID:31507630|PMID:31589614|PMID:31650533|PMID:31765523|PMID:31772028|PMID:31879361|PMID:31980526|PMID:32502479|PMID:33715250|PMID:34134972|PMID:34768622|PMID:9536098 9055404 Spag7 sperm associated antigen 7 gene DOID:0050941 spastic ataxia 2 ISO RGD:1313520 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia 2 PMID:28492532 9055404 Spag7 sperm associated antigen 7 gene DOID:0110678 congenital myasthenic syndrome 4A ISO RGD:1313520 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:28492532 9055404 Spag7 sperm associated antigen 7 gene DOID:630 genetic disease ISO RGD:1313520 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055423 Sntg1 syntrophin gamma 1 gene DOID:630 genetic disease ISO RGD:1347731 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9055455 Tmem156 transmembrane protein 156 gene DOID:630 genetic disease ISO RGD:1605045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055455 Tmem156 transmembrane protein 156 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1605045 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 9055475 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733707 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy PMID:11835386|PMID:12707859|PMID:15054402|PMID:15136673|PMID:15776425|PMID:16998732|PMID:18263758|PMID:20016818|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28492532|PMID:32071834|PMID:32180488|PMID:35389136 9055475 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:733707 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11835386|PMID:15054402|PMID:15136673|PMID:15507143|PMID:15776425|PMID:16199547|PMID:16807905|PMID:16998732|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28334938|PMID:28492532|PMID:32071834|PMID:32180488|PMID:32962729|PMID:33432707|PMID:34745209|PMID:35389136 9055475 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0070371 leukoencephalopathy with vanishing white matter 4 ISO RGD:733707 D RGD:7240710 20230505 OMIM 9055475 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0070371 leukoencephalopathy with vanishing white matter 4 ISO RGD:733707 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4 PMID:11835386|PMID:15054402|PMID:15776425|PMID:18263758|PMID:25089094|PMID:25600065|PMID:25843247|PMID:28492532|PMID:29331873|PMID:33432707 9055475 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:733707 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9055475 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:3910 lung adenocarcinoma ISO RGD:733707 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24366584 9055475 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:630 genetic disease ISO RGD:733707 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15054402|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:28334938|PMID:28492532 9055475 Eif2b4 eukaryotic translation initiation factor 2B subunit delta gene DOID:9002704 Leukoencephalopathies ISO RGD:733707 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar Annotator: match by term: Childhood ataxia with diffuse central nervous system hypomyelination | ClinVar Annotator: match by term: Myelinosis centralis diffusa PMID:11835386|PMID:15054402|PMID:15136673|PMID:15507143|PMID:15776425|PMID:16199547|PMID:16807905|PMID:16998732|PMID:18263758|PMID:20016818|PMID:22430157|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26467025|PMID:26553438|PMID:27812215|PMID:28008009|PMID:28334938|PMID:28492532|PMID:32071834|PMID:32180488|PMID:32962729|PMID:33432707|PMID:34745209|PMID:35389136 9055514 Hrh3 histamine receptor H3 gene DOID:10763 hypertension ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:9050021|REF_RGD_ID:1626409 9055514 Hrh3 histamine receptor H3 gene DOID:10763 hypertension ISO RGD:732356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9050021 9055514 Hrh3 histamine receptor H3 gene DOID:10808 gastric ulcer ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:15680274|REF_RGD_ID:1626428 9055514 Hrh3 histamine receptor H3 gene DOID:10914 amnestic disorder ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:17276409|REF_RGD_ID:1626421 9055514 Hrh3 histamine receptor H3 gene DOID:10914 amnestic disorder ISO RGD:732356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11125734 9055514 Hrh3 histamine receptor H3 gene DOID:11446 sciatic neuropathy ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:17350523|REF_RGD_ID:1626418 9055514 Hrh3 histamine receptor H3 gene DOID:11832 visual epilepsy ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:15319804|REF_RGD_ID:1626432 9055514 Hrh3 histamine receptor H3 gene DOID:1824 status epilepticus ISO RGD:620630 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:16137576|REF_RGD_ID:1626426 9055514 Hrh3 histamine receptor H3 gene DOID:4195 hyperglycemia ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:11684344|REF_RGD_ID:1626408 9055514 Hrh3 histamine receptor H3 gene DOID:630 genetic disease ISO RGD:732356 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055514 Hrh3 histamine receptor H3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:16671478|REF_RGD_ID:1626425 9055514 Hrh3 histamine receptor H3 gene DOID:9004009 Reperfusion Injury ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:17169356|REF_RGD_ID:1626416 9055514 Hrh3 histamine receptor H3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:15076218|REF_RGD_ID:1626433 9055514 Hrh3 histamine receptor H3 gene DOID:9008023 Memory Disorders ISO RGD:732356 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16488453 9055514 Hrh3 histamine receptor H3 gene DOID:9009039 Hyperemia ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:15381834|REF_RGD_ID:1626431 9055514 Hrh3 histamine receptor H3 gene DOID:9970 obesity ISO RGD:620630 D RGD:9068941 20200609 RGD PMID:17189541|REF_RGD_ID:1626405 9055533 Mc5r melanocortin 5 receptor gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:732421 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 9055533 Mc5r melanocortin 5 receptor gene DOID:1059 intellectual disability ISO RGD:732421 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9055533 Mc5r melanocortin 5 receptor gene DOID:630 genetic disease ISO RGD:732421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055533 Mc5r melanocortin 5 receptor gene DOID:9004713 Acute-Phase Reaction ISO RGD:3058 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:22183812|REF_RGD_ID:6484138 9055546 Tmem253 transmembrane protein 253 gene DOID:5813 purine nucleoside phosphorylase deficiency ISO RGD:1626192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency PMID:24767876|PMID:28492532 9055546 Tmem253 transmembrane protein 253 gene DOID:630 genetic disease ISO RGD:1626192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055546 Tmem253 transmembrane protein 253 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1626192 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9055568 Myl5 myosin light chain 5 gene DOID:0110375 retinitis pigmentosa 40 ISO RGD:1354290 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 9055568 Myl5 myosin light chain 5 gene DOID:1856 cherubism ISO RGD:1354290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 9055568 Myl5 myosin light chain 5 gene DOID:630 genetic disease ISO RGD:1354290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055568 Myl5 myosin light chain 5 gene DOID:9005541 Mental Retardation, Autosomal Recessive 53 ISO RGD:1354290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY PMID:26996948|PMID:28492532|PMID:28581210|PMID:28771251|PMID:34113002 9055578 Zbtb10 zinc finger and BTB domain containing 10 gene DOID:11782 astigmatism ISO RGD:1348951 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Astigmatism PMID:25741868 9055578 Zbtb10 zinc finger and BTB domain containing 10 gene DOID:630 genetic disease ISO RGD:1348951 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055588 Ppme1 protein phosphatase methylesterase 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1605082 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 9055588 Ppme1 protein phosphatase methylesterase 1 gene DOID:1059 intellectual disability ISO RGD:1605082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9055588 Ppme1 protein phosphatase methylesterase 1 gene DOID:630 genetic disease ISO RGD:1605082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055610 Jdp2 Jun dimerization protein 2 gene DOID:1059 intellectual disability ISO RGD:1602305 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9055610 Jdp2 Jun dimerization protein 2 gene DOID:630 genetic disease ISO RGD:1602305 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055610 Jdp2 Jun dimerization protein 2 gene DOID:684 hepatocellular carcinoma ISO RGD:1602305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20214788 9055610 Jdp2 Jun dimerization protein 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1602305 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1344985 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:26467025|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28888069|PMID:28967629|PMID:28975462|PMID:29625556|PMID:31523922|PMID:31850270|PMID:32337346|PMID:32376792|PMID:33146414|PMID:3856385|PMID:9536098 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1344985 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:23806086|PMID:24088041|PMID:25741868|PMID:25986071|PMID:26257172|PMID:28492532|PMID:31850270|PMID:32376792 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:0060786 hypomyelinating leukodystrophy ISO RGD:1344985 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy PMID:25741868|PMID:28842795 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 ISO RGD:1344985 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation PMID:15693857|PMID:20362274|PMID:20652413|PMID:20818383|PMID:22019070|PMID:23217327|PMID:23806086|PMID:24002164|PMID:24088041|PMID:25583628|PMID:25590979|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:26257172|PMID:27102849|PMID:28492532|PMID:28842795|PMID:28967629|PMID:31523922|PMID:32376792|PMID:3856385|PMID:7887410 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:0110535 autosomal recessive nonsyndromic deafness 9 ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:0111502 combined oxidative phosphorylation deficiency 6 ISO RGD:1344985 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy PMID:20362274|PMID:20652413|PMID:22019070|PMID:24002164|PMID:25583628|PMID:25741868|PMID:25986071|PMID:26173962|PMID:26467025|PMID:28492532|PMID:31850270 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:0111741 X-linked deafness 5 ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 PMID:16816020|PMID:25741868|PMID:25986071|PMID:28492532|PMID:31850270 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:10003 sensorineural hearing loss ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:25590979|PMID:25741868|PMID:28492532|PMID:28967629|PMID:31523922 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:10283 prostate cancer ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:10579 leukodystrophy ISO RGD:1344985 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leukodystrophy PMID:25741868|PMID:28842795 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:10581 metachromatic leukodystrophy ISO RGD:1344985 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy variant PMID:25741868|PMID:28842795 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual functioning disability PMID:25741868 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:12849 autistic disorder ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:574 peripheral nervous system disease ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:20362274|PMID:20818383|PMID:22019070|PMID:23217327|PMID:25583628|PMID:25741868|PMID:25934856|PMID:25986071|PMID:26173962|PMID:27102849|PMID:28492532|PMID:28842795|PMID:32376792|PMID:3856385|PMID:9536098 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:870 neuropathy ISO RGD:1344985 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:9000068 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy ISO RGD:1344985 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:9001890 Auditory Neuropathy ISO RGD:1344985 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:9002408 Sketetal Dysplasia Coarse Facies Mental Retardation ISO RGD:1344985 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia X-linked with mental deterioration PMID:10486082|PMID:16924009|PMID:23239615|PMID:25741868|PMID:27102849|PMID:28492532|PMID:28842795 9055617 Rab33a RAB33A, member RAS oncogene family gene DOID:9008784 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency ISO RGD:1344985 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency PMID:25741868 9055628 Mal mal, T cell differentiation protein gene DOID:10581 metachromatic leukodystrophy ISO RGD:735676 D RGD:9068941 20200609 RGD PMID:15193296|REF_RGD_ID:1358761 9055628 Mal mal, T cell differentiation protein gene DOID:1749 squamous cell carcinoma ISO RGD:735676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19445022 9055628 Mal mal, T cell differentiation protein gene DOID:630 genetic disease ISO RGD:735676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055628 Mal mal, T cell differentiation protein gene DOID:9006169 Head and Neck Neoplasms ISO RGD:735676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19445022 9055628 Mal mal, T cell differentiation protein gene DOID:9008939 Breast Neoplasms ISO RGD:735676 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208741 9055654 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1316051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 9055654 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1316051 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 9055654 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1316051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 9055654 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:630 genetic disease ISO RGD:1316051 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055654 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1316051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 9055654 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 9055654 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:9006205 Animal Disease Models ISO RGD:1316051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 9055654 Elp3 elongator acetyltransferase complex subunit 3 gene DOID:9008939 Breast Neoplasms ISO RGD:1316051 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27811057 9055678 Tsfm Ts translation elongation factor, mitochondrial gene DOID:0060286 combined oxidative phosphorylation deficiency ISO RGD:1346120 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency PMID:28492532 9055678 Tsfm Ts translation elongation factor, mitochondrial gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1346120 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:25741868|PMID:29058690 9055678 Tsfm Ts translation elongation factor, mitochondrial gene DOID:0111486 combined oxidative phosphorylation deficiency 3 ISO RGD:1346120 D RGD:7240710 20180130 OMIM 9055678 Tsfm Ts translation elongation factor, mitochondrial gene DOID:0111486 combined oxidative phosphorylation deficiency 3 ISO RGD:1346120 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 PMID:16199547|PMID:17033963|PMID:17576681|PMID:20435138|PMID:21119709|PMID:21169334|PMID:21741925|PMID:22277967|PMID:22499341|PMID:25037205|PMID:25078778|PMID:25741868|PMID:27677415|PMID:28074886|PMID:28492532|PMID:29261183|PMID:31267352|PMID:33816677|PMID:9536098 9055678 Tsfm Ts translation elongation factor, mitochondrial gene DOID:0112267 nephrotic syndrome type 21 ISO RGD:1346120 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 21 PMID:25741868|PMID:29058690 9055678 Tsfm Ts translation elongation factor, mitochondrial gene DOID:12930 dilated cardiomyopathy ISO RGD:1346120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17033963|PMID:20435138|PMID:21741925|PMID:22277967|PMID:25037205|PMID:25078778|PMID:25741868|PMID:28492532|PMID:29261183|PMID:33816677 9055678 Tsfm Ts translation elongation factor, mitochondrial gene DOID:423 myopathy ISO RGD:1346120 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Skeletal myopathy 9055678 Tsfm Ts translation elongation factor, mitochondrial gene DOID:630 genetic disease ISO RGD:1346120 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17033963|PMID:20435138|PMID:21119709|PMID:21741925|PMID:22277967|PMID:22499341|PMID:25741868|PMID:28492532|PMID:31267352 9055678 Tsfm Ts translation elongation factor, mitochondrial gene DOID:6846 familial melanoma ISO RGD:1346120 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 9055678 Tsfm Ts translation elongation factor, mitochondrial gene DOID:9008675 Dyskinesias ISO RGD:1346120 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:30297209 9055703 Psma2 proteasome 20S subunit alpha 2 gene DOID:114 heart disease ISO RGD:732886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16844662 9055703 Psma2 proteasome 20S subunit alpha 2 gene DOID:11476 osteoporosis ISO RGD:732886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 9055703 Psma2 proteasome 20S subunit alpha 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:732886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9055703 Psma2 proteasome 20S subunit alpha 2 gene DOID:630 genetic disease ISO RGD:732886 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055715 Garin3 golgi associated RAB2 interactor family member 3 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1606142 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 9055715 Garin3 golgi associated RAB2 interactor family member 3 gene DOID:630 genetic disease ISO RGD:1606142 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055727 Tmem35b transmembrane protein 35B gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:5132761 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9055727 Tmem35b transmembrane protein 35B gene DOID:630 genetic disease ISO RGD:5132761 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055743 Adam19 ADAM metallopeptidase domain 19 gene DOID:1682 congenital heart disease ISO RGD:735924 D RGD:9068941 20200609 RGD PMID:14673146|REF_RGD_ID:1559267 9055743 Adam19 ADAM metallopeptidase domain 19 gene DOID:1749 squamous cell carcinoma ISO RGD:735923 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma PMID:27993330 9055743 Adam19 ADAM metallopeptidase domain 19 gene DOID:3910 lung adenocarcinoma ISO RGD:735923 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lung adenocarcinoma PMID:27993330 9055743 Adam19 ADAM metallopeptidase domain 19 gene DOID:5199 ureteral obstruction ISO RGD:735924 D RGD:9068941 20200609 RGD PMID:24103556|REF_RGD_ID:13703030 9055743 Adam19 ADAM metallopeptidase domain 19 gene DOID:630 genetic disease ISO RGD:735923 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0060903 thrombosis ISO RGD:1323132 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Thrombus PMID:25741868|PMID:28492532 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080177 hepatic veno-occlusive disease ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:12040478|REF_RGD_ID:10449042 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1311594 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver, plasma (rat) PMID:19652891|REF_RGD_ID:2315953 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1323132 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:12753286|PMID:17187257|PMID:17627784|PMID:1787257|PMID:19847791|PMID:19880749|PMID:23715102|PMID:23878316|PMID:25741868|PMID:28492532|PMID:28748566|PMID:28866379|PMID:30046676|PMID:32183147 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1323132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:0081097 Rafiq syndrome ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323132 D RGD:7240710 20180130 OMIM 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:10772 thrombotic thrombocytopenic purpura ISO RGD:1323132 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ADAMTS13-related condition | ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome PMID:11563771|PMID:11586351|PMID:12181489|PMID:12393505|PMID:12434890|PMID:12576319|PMID:12614216|PMID:12753286|PMID:14512317|PMID:14563640|PMID:14597993|PMID:15009458|PMID:15126318|PMID:15521921|PMID:15800115|PMID:16160007|PMID:16388417|PMID:16453338|PMID:16597588|PMID:16796708|PMID:16807643|PMID:17003922|PMID:17187257|PMID:17576681|PMID:17627784|PMID:17849048|PMID:1787257|PMID:18031293|PMID:18443791|PMID:18481107|PMID:18581589|PMID:18665921|PMID:19047683|PMID:19055667|PMID:19786614|PMID:19847791|PMID:20647566|PMID:20886194|PMID:21488199|PMID:21676167|PMID:21781265|PMID:22289888|PMID:22529288|PMID:22547583|PMID:22768050|PMID:22783805|PMID:23058857|PMID:23208954|PMID:23346910|PMID:23621748|PMID:23648131|PMID:23715102|PMID:23847193|PMID:23878316|PMID:24033266|PMID:24115559|PMID:24433405|PMID:24859360|PMID:24936513|PMID:25442981|PMID:25741868|PMID:25934476|PMID:26081109|PMID:26139087|PMID:26342041|PMID:26352112|PMID:26566785|PMID:27132698|PMID:27427187|PMID:27802307|PMID:28492532|PMID:28678087|PMID:28748566|PMID:28866379|PMID:29554699|PMID:30046676|PMID:30312976|PMID:30762934|PMID:30792199|PMID:31064749|PMID:31971692|PMID:31980526|PMID:32183147|PMID:32496441|PMID:34355501|PMID:35022991|PMID:6433703|PMID:7094941|PMID:9536098 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:11247 disseminated intravascular coagulation ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:decreased expression, decreased activity:plasma (human) PMID:16189276|REF_RGD_ID:10449048 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:13133 HELLP syndrome ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:12969811|REF_RGD_ID:10449045 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:13580 cholestasis ISO RGD:1311594 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:liver, plasma (rat) PMID:19652891|REF_RGD_ID:2315953 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:14067 Plasmodium falciparum malaria ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (human) PMID:20062916|REF_RGD_ID:10449041 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1323132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:2213 hemorrhagic disease ISO RGD:1323132 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:3652 Leigh disease ISO RGD:1323132 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:418 systemic scleroderma ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:12935979|REF_RGD_ID:10449040 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:5082 liver cirrhosis severity ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:increased expression, increased activity:liver (rat) PMID:16689760|REF_RGD_ID:1598737 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:630 genetic disease ISO RGD:1323132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:684 hepatocellular carcinoma ISO RGD:1323132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:8924 autoimmune thrombocytopenic purpura ISO RGD:1323132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19260037 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:1323132 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14625834|PMID:16388419 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9000528 Coronary Disease ISO RGD:1323132 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Three Vessel Coronary Disease PMID:25741868|PMID:28492532 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9001553 Spinal Cord Compression ISO RGD:1311594 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:spinal cord (rat) PMID:22425718|REF_RGD_ID:10449098 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9002448 Thrombotic Thrombocytopenic Purpura, Acquired ISO RGD:1323132 D RGD:9068941 20200609 RGD PMID:9828246|REF_RGD_ID:10449039 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9002448 Thrombotic Thrombocytopenic Purpura, Acquired treatment ISO RGD:1323132 D RGD:9068941 20200609 RGD human protein in a rat model PMID:26338302|REF_RGD_ID:10449097 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9003871 Venous Thrombosis treatment ISO RGD:1311594 D RGD:9068941 20200609 RGD PMID:21095090|REF_RGD_ID:10449099 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9007096 Stroke ISO RGD:1323132 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25741868|PMID:27802307|PMID:28492532 9055775 Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 gene DOID:9074 systemic lupus erythematosus ISO RGD:1323132 D RGD:9068941 20200609 RGD protein:decreased expression:plasma (human) PMID:12935979|REF_RGD_ID:10449040 9055811 Znf496 zinc finger protein 496 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1312150 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 9055811 Znf496 zinc finger protein 496 gene DOID:1540 parathyroid carcinoma ISO RGD:1312150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9055811 Znf496 zinc finger protein 496 gene DOID:630 genetic disease ISO RGD:1312150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055811 Znf496 zinc finger protein 496 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1312150 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9055821 Pex12 peroxisomal biogenesis factor 12 gene DOID:0050444 infantile Refsum disease ISO RGD:731687 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL | ClinVar Annotator: match by term: Infantile Refsum's disease PMID:10527683|PMID:10562279|PMID:10837480|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25326635|PMID:25741868|PMID:26094004|PMID:27124789|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 9055821 Pex12 peroxisomal biogenesis factor 12 gene DOID:0080377 peroxisomal biogenesis disorder ISO RGD:731687 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9090384 9055821 Pex12 peroxisomal biogenesis factor 12 gene DOID:0080476 peroxisome biogenesis disorder 1A ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:28492532 9055821 Pex12 peroxisomal biogenesis factor 12 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:731687 D RGD:7240710 20180130 OMIM 9055821 Pex12 peroxisomal biogenesis factor 12 gene DOID:0080478 peroxisome biogenesis disorder 3A ISO RGD:731687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:10527683|PMID:10562279|PMID:10837480|PMID:11370741|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17534573|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:22471590|PMID:24033266|PMID:24627108|PMID:25287621|PMID:25326635|PMID:25741868|PMID:26094004|PMID:26643206|PMID:27124789|PMID:27763634|PMID:28492532|PMID:29389947|PMID:33123925|PMID:9090384|PMID:9354782|PMID:9536098|PMID:9632816|PMID:9792857 9055821 Pex12 peroxisomal biogenesis factor 12 gene DOID:0081241 peroxisome biogenesis disorder 3B ISO RGD:731687 D RGD:7240710 20180425 OMIM 9055821 Pex12 peroxisomal biogenesis factor 12 gene DOID:0081241 peroxisome biogenesis disorder 3B ISO RGD:731687 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b | ClinVar Annotator: match by term: Peroxisome biogenesis disorder type 3B PMID:10527683|PMID:10562279|PMID:10837480|PMID:11370741|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17534573|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:2122101|PMID:21465523|PMID:22471590|PMID:24033266|PMID:24627108|PMID:25287621|PMID:25326635|PMID:25741868|PMID:26094004|PMID:26643206|PMID:27124789|PMID:27763634|PMID:28492532|PMID:29389947|PMID:33123925|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 9055821 Pex12 peroxisomal biogenesis factor 12 gene DOID:630 genetic disease ISO RGD:731687 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9055821 Pex12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder PMID:10527683|PMID:10837480|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15542397|PMID:16199547|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9632816|PMID:9792857 9055821 Pex12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:10527683|PMID:10837480|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15542397|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 9055821 Pex12 peroxisomal biogenesis factor 12 gene DOID:905 Zellweger syndrome ISO RGD:731687 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:10527683|PMID:10562279|PMID:10837480|PMID:12032265|PMID:14571262|PMID:14630978|PMID:15184617|PMID:15241794|PMID:15542397|PMID:16199547|PMID:17576681|PMID:19105186|PMID:19127411|PMID:19877282|PMID:21031596|PMID:21465523|PMID:24627108|PMID:25287621|PMID:25741868|PMID:26094004|PMID:28492532|PMID:29389947|PMID:9090384|PMID:9536098|PMID:9632816|PMID:9792857 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18688853 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:0050855 renal fibrosis severity ISO RGD:732562 D RGD:9068941 20200609 RGD associated with Ureteral Obstruction PMID:21356359|REF_RGD_ID:7242415 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:0060180 colitis ISO RGD:2214 D RGD:9068941 20200609 RGD PMID:22361727|REF_RGD_ID:7242194 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:0090128 Carvajal syndrome ISO RGD:1353193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:28492532 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:0110076 arrhythmogenic right ventricular dysplasia 8 ISO RGD:1353193 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:10283 prostate cancer ISO RGD:1353193 D RGD:9068941 20200609 RGD protein:increased expression:prostate PMID:18072288|REF_RGD_ID:2289017 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:1612 breast cancer ISO RGD:1353193 D RGD:9068941 20200609 RGD mRNA:decreased expression:breast PMID:17004110|REF_RGD_ID:1643590 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:2316 brain ischemia ISO RGD:2214 D RGD:9068941 20200609 RGD PMID:11245809|REF_RGD_ID:2289024 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:2352 hemochromatosis ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19252486|PMID:19252488 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:2355 anemia ISO RGD:2214 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:liver PMID:21859731|REF_RGD_ID:7242407 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:3042 allergic contact dermatitis ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17374397 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1353193 D RGD:9068941 20200609 RGD protein:increased expression:esophagus PMID:22364398|REF_RGD_ID:7242413 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:4450 renal cell carcinoma ISO RGD:1353193 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:kidney PMID:20016212|REF_RGD_ID:7242419 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:5426 primary ovarian insufficiency ISO RGD:1353193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:630 genetic disease ISO RGD:1353193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:7148 rheumatoid arthritis ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:8398 osteoarthritis ISO RGD:1353193 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20008919 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:9000955 Acute Otitis Media ISO RGD:732562 D RGD:9068941 20210611 RGD mRNA:decreased expression:middle ear (mouse) PMID:21889218|REF_RGD_ID:127284853 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:9000965 Neoplasm Metastasis severity ISO RGD:1353193 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;protein:increased expression:bone PMID:16166304|REF_RGD_ID:2289018 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:9000998 Brain Injuries ISO RGD:2214 D RGD:9068941 20200609 RGD protein:increased expression:brain, astrocyte, neuron PMID:16388909|REF_RGD_ID:2289020 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:9001547 Tibial Fractures ISO RGD:2214 D RGD:9068941 20200609 RGD PMID:23097200|REF_RGD_ID:7242189 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:9002865 Neonatal Hemochromatosis ISO RGD:1353193 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Neonatal hemochromatosis PMID:25741868 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:9004009 Reperfusion Injury ISO RGD:2214 D RGD:9068941 20200609 RGD PMID:11245809|REF_RGD_ID:2289024 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:9005725 Iron Overload ISO RGD:1353193 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Iron overload, susceptibility to PMID:26582087|PMID:28335084|PMID:32464486 9055836 Bmp6 bone morphogenetic protein 6 gene DOID:9005725 Iron Overload susceptibility ISO RGD:1353193 D RGD:7240710 20221214 OMIM 9055848 Rsph6a radial spoke head 6 homolog A gene DOID:630 genetic disease ISO RGD:1344817 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055858 Dcc DCC netrin 1 receptor gene DOID:0060041 autism spectrum disorder ISO RGD:731288 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28250454|PMID:31589614|PMID:35246524|PMID:36123965 9055858 Dcc DCC netrin 1 receptor gene DOID:1059 intellectual disability ISO RGD:731288 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9055858 Dcc DCC netrin 1 receptor gene DOID:1107 esophageal carcinoma ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Esophageal carcinoma, somatic PMID:8187090 9055858 Dcc DCC netrin 1 receptor gene DOID:13938 amenorrhea ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:24808016|PMID:32870266 9055858 Dcc DCC netrin 1 receptor gene DOID:1520 colon carcinoma ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:8188295 9055858 Dcc DCC netrin 1 receptor gene DOID:1909 melanoma ISO RGD:731288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22842228 9055858 Dcc DCC netrin 1 receptor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:731288 D RGD:7240710 20240207 OMIM 9055858 Dcc DCC netrin 1 receptor gene DOID:4961 bone marrow disease ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bone marrow hypocellularity PMID:25741868 9055858 Dcc DCC netrin 1 receptor gene DOID:630 genetic disease ISO RGD:731288 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28250454|PMID:28492532 9055858 Dcc DCC netrin 1 receptor gene DOID:9000039 Spinal Cord Injuries ISO RGD:2492 D RGD:9068941 20200609 RGD PMID:16998900|REF_RGD_ID:2314373 9055858 Dcc DCC netrin 1 receptor gene DOID:9000117 Esophageal Neoplasms ISO RGD:731288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9055858 Dcc DCC netrin 1 receptor gene DOID:9001668 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 ISO RGD:731288 D RGD:7240710 20190315 OMIM 9055858 Dcc DCC netrin 1 receptor gene DOID:9001668 Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 PMID:25741868|PMID:28250456|PMID:28492532 9055858 Dcc DCC netrin 1 receptor gene DOID:9001999 Agenesis of Corpus Callosum ISO RGD:731288 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Corpus callosum, agenesis of PMID:24808016|PMID:25741868|PMID:28250454|PMID:31589614|PMID:35246524|PMID:36123965 9055858 Dcc DCC netrin 1 receptor gene DOID:9002570 Mirror Movements 1 ISO RGD:731288 D RGD:7240710 20180130 OMIM 9055858 Dcc DCC netrin 1 receptor gene DOID:9002570 Mirror Movements 1 ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mirror movements 1 | ClinVar Annotator: match by term: Mirror movements 1 and/or agenesis of the corpus callosum PMID:19127048|PMID:20431009|PMID:21681106|PMID:24808016|PMID:25741868|PMID:28250454|PMID:28492532|PMID:31697046|PMID:32870266 9055858 Dcc DCC netrin 1 receptor gene DOID:9004009 Reperfusion Injury ISO RGD:2492 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:17574219|REF_RGD_ID:2314372 9055858 Dcc DCC netrin 1 receptor gene DOID:9004787 Familial Horizontal Gaze Palsy with Progressive Scoliosis ISO RGD:731288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28250456 9055858 Dcc DCC netrin 1 receptor gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2492 D RGD:9068941 20200609 RGD PMID:16337279|REF_RGD_ID:2314374 9055858 Dcc DCC netrin 1 receptor gene DOID:9007462 Partial Agenesis of Corpus Callosum ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Partial agenesis of the corpus callosum PMID:25741868 9055858 Dcc DCC netrin 1 receptor gene DOID:9008443 Colorectal Neoplasms ISO RGD:731288 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15365072 9055858 Dcc DCC netrin 1 receptor gene DOID:9256 colorectal cancer ISO RGD:731288 D RGD:7240710 20200226 OMIM 9055858 Dcc DCC netrin 1 receptor gene DOID:9256 colorectal cancer ISO RGD:731288 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25741868 9055897 Snx8 sorting nexin 8 gene DOID:0080600 COVID-19 ISO RGD:1314037 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9055897 Snx8 sorting nexin 8 gene DOID:630 genetic disease ISO RGD:1314037 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055927 Mfsd14b major facilitator superfamily domain containing 14B gene DOID:12642 hiatus hernia ISO RGD:1606770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hiatus hernia 9055927 Mfsd14b major facilitator superfamily domain containing 14B gene DOID:630 genetic disease ISO RGD:1606770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055945 Wrap73 WD repeat containing, antisense to TP73 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9055945 Wrap73 WD repeat containing, antisense to TP73 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9055945 Wrap73 WD repeat containing, antisense to TP73 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9055945 Wrap73 WD repeat containing, antisense to TP73 gene DOID:0111934 immunodeficiency 38 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9055945 Wrap73 WD repeat containing, antisense to TP73 gene DOID:0111935 immunodeficiency 16 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9055945 Wrap73 WD repeat containing, antisense to TP73 gene DOID:630 genetic disease ISO RGD:1350775 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055945 Wrap73 WD repeat containing, antisense to TP73 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350775 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9055945 Wrap73 WD repeat containing, antisense to TP73 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1350775 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9055972 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0080422 Dravet syndrome ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:28492532 9055972 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0111940 immunodeficiency 42 ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9055972 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9055972 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:734297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9055972 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:1540 parathyroid carcinoma ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9055972 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:5812 MHC class II deficiency ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9055972 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:630 genetic disease ISO RGD:734297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9055972 Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:734297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9055988 Mrpl12 mitochondrial ribosomal protein L12 gene DOID:0080600 COVID-19 ISO RGD:1343345 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9055988 Mrpl12 mitochondrial ribosomal protein L12 gene DOID:0112113 combined oxidative phosphorylation deficiency 45 ISO RGD:1343345 D RGD:7240710 20200812 OMIM 9055988 Mrpl12 mitochondrial ribosomal protein L12 gene DOID:0112113 combined oxidative phosphorylation deficiency 45 ISO RGD:1343345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 45 PMID:23603806 9055988 Mrpl12 mitochondrial ribosomal protein L12 gene DOID:3910 lung adenocarcinoma ISO RGD:1343345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9055988 Mrpl12 mitochondrial ribosomal protein L12 gene DOID:630 genetic disease ISO RGD:1343345 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9055988 Mrpl12 mitochondrial ribosomal protein L12 gene DOID:9006205 Animal Disease Models ISO RGD:1343345 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9055997 Rab12 RAB12, member RAS oncogene family gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1346694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 9055997 Rab12 RAB12, member RAS oncogene family gene DOID:1059 intellectual disability ISO RGD:1346694 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9055997 Rab12 RAB12, member RAS oncogene family gene DOID:630 genetic disease ISO RGD:1346694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:29057844 9055997 Rab12 RAB12, member RAS oncogene family gene DOID:9007102 Myocardial Ischemia ISO RGD:1346694 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9056006 Ddit4 DNA damage inducible transcript 4 gene DOID:0080600 COVID-19 ISO RGD:1346554 D RGD:9068941 20200626 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9056006 Ddit4 DNA damage inducible transcript 4 gene DOID:1240 leukemia ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17379067 9056006 Ddit4 DNA damage inducible transcript 4 gene DOID:14330 Parkinson's disease ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17005863 9056006 Ddit4 DNA damage inducible transcript 4 gene DOID:403 mouth disease ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17682004 9056006 Ddit4 DNA damage inducible transcript 4 gene DOID:630 genetic disease ISO RGD:1346554 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056006 Ddit4 DNA damage inducible transcript 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17379860 9056006 Ddit4 DNA damage inducible transcript 4 gene DOID:9002955 Nerve Degeneration ISO RGD:1346554 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17005863 9056018 Prcp prolylcarboxypeptidase gene DOID:1059 intellectual disability ISO RGD:1317272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9056018 Prcp prolylcarboxypeptidase gene DOID:3454 brain infarction ISO RGD:1307842 D RGD:9068941 20230527 RGD mRNA:increased expression:brain (rat) PMID:23251410|REF_RGD_ID:329845556 9056018 Prcp prolylcarboxypeptidase gene DOID:630 genetic disease ISO RGD:1317272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056035 Adcy4 adenylate cyclase 4 gene DOID:0060439 lysinuric protein intolerance ISO RGD:736108 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 9056035 Adcy4 adenylate cyclase 4 gene DOID:630 genetic disease ISO RGD:736108 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056035 Adcy4 adenylate cyclase 4 gene DOID:9000265 Specific Granule Deficiency ISO RGD:736108 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 9056035 Adcy4 adenylate cyclase 4 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:736108 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9056069 Clba1 clathrin binding box of aftiphilin containing 1 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1316438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 9056069 Clba1 clathrin binding box of aftiphilin containing 1 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1316438 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:0111992 immunodeficiency 53 ISO RGD:1353567 D RGD:7240710 20190315 OMIM 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:0111992 immunodeficiency 53 ISO RGD:1353567 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Immunodeficiency 53 | ClinVar Annotator: match by term: RELB-related condition PMID:25741868|PMID:26385063|PMID:28492532 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:11716 prediabetes syndrome ISO RGD:2321078 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet PMID:10630383|REF_RGD_ID:7777162 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:1612 breast cancer ISO RGD:1353567 D RGD:9068941 20200609 RGD protein:decreased localization:T cell, nucleus PMID:9724088|REF_RGD_ID:2298697 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:1612 breast cancer ISO RGD:1353567 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:21640702|REF_RGD_ID:7777150 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:2671 transitional cell carcinoma ISO RGD:1353567 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:urinary bladder mucosa, nucleus PMID:12452071|REF_RGD_ID:2300270 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:3310 atopic dermatitis ISO RGD:1558382 D RGD:9068941 20200609 RGD PMID:10940923|REF_RGD_ID:7777149 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:3310 atopic dermatitis ISO RGD:1558382 D RGD:9068941 20220825 MouseDO OMIM:603165 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:5199 ureteral obstruction ISO RGD:2321078 D RGD:9068941 20200609 RGD protein:increased activity:kidney PMID:9328931|REF_RGD_ID:7777163 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:557 kidney disease ISO RGD:2321078 D RGD:9068941 20200609 RGD protein:increased localization: kidney tubule epithelium, nucleus PMID:22017545|REF_RGD_ID:6483553 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:630 genetic disease ISO RGD:1353567 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:767 muscular atrophy ISO RGD:2321078 D RGD:9068941 20200609 RGD protein:decreased localization:soleus, nucleus PMID:11919155|REF_RGD_ID:7777164 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1558382 D RGD:9068941 20200609 RGD PMID:12897145|REF_RGD_ID:2300264 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:9002676 Cerebral Hemorrhage ISO RGD:2321078 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, increased activity:striatum PMID:17250675|REF_RGD_ID:2302394 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:9004283 Transplant Rejection treatment ISO RGD:2321078 D RGD:9068941 20200609 RGD PMID:23196258|REF_RGD_ID:7777161 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:9004649 Heat Stroke ISO RGD:1353567 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24039931 9056084 Relb RELB proto-oncogene, NF-kB subunit gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1558382 D RGD:9068941 20200609 RGD PMID:16260626|REF_RGD_ID:7777148 9056100 Klhl12 kelch like family member 12 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1346633 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9056100 Klhl12 kelch like family member 12 gene DOID:1540 parathyroid carcinoma ISO RGD:1346633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9056100 Klhl12 kelch like family member 12 gene DOID:630 genetic disease ISO RGD:1346633 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056100 Klhl12 kelch like family member 12 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1346633 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9056100 Klhl12 kelch like family member 12 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346633 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9056124 Camkmt calmodulin-lysine N-methyltransferase gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1332422 D RGD:9068941 20220825 MouseDO OMIM:606407 9056124 Camkmt calmodulin-lysine N-methyltransferase gene DOID:0060858 hypotonia-cystinuria syndrome ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 9056124 Camkmt calmodulin-lysine N-methyltransferase gene DOID:3883 Lynch syndrome ISO RGD:1605634 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 9056124 Camkmt calmodulin-lysine N-methyltransferase gene DOID:630 genetic disease ISO RGD:1605634 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056124 Camkmt calmodulin-lysine N-methyltransferase gene DOID:699 mitochondrial myopathy ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 9056124 Camkmt calmodulin-lysine N-methyltransferase gene DOID:8927 learning disability ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 9056124 Camkmt calmodulin-lysine N-methyltransferase gene DOID:9005532 Muscle Weakness ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 9056124 Camkmt calmodulin-lysine N-methyltransferase gene DOID:9008086 Developmental Disabilities ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 9056124 Camkmt calmodulin-lysine N-methyltransferase gene DOID:9923 developmental coordination disorder ISO RGD:1605634 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26247364 9056150 Tor1aip1 torsin 1A interacting protein 1 gene DOID:0070191 autosomal recessive chronic granulomatous disease 2 ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 PMID:28492532 9056150 Tor1aip1 torsin 1A interacting protein 1 gene DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y ISO RGD:1607052 D RGD:7240710 20190315 OMIM 9056150 Tor1aip1 torsin 1A interacting protein 1 gene DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y ISO RGD:1607052 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Y PMID:16199547|PMID:17576681|PMID:24856141|PMID:25193337|PMID:25741868|PMID:26436962|PMID:27342937|PMID:28492532|PMID:32055997|PMID:32190976|PMID:4856141|PMID:9536098 9056150 Tor1aip1 torsin 1A interacting protein 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9056150 Tor1aip1 torsin 1A interacting protein 1 gene DOID:630 genetic disease ISO RGD:1607052 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9056150 Tor1aip1 torsin 1A interacting protein 1 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:21548129|PMID:21681106|PMID:26333682 9056150 Tor1aip1 torsin 1A interacting protein 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1607052 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9056170 Pkn3 protein kinase N3 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314240 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9056170 Pkn3 protein kinase N3 gene DOID:630 genetic disease ISO RGD:1314240 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1319171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1319171 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:0081097 Rafiq syndrome ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1319171 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:2843 long QT syndrome ISO RGD:1319171 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:3652 Leigh disease ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:630 genetic disease ISO RGD:1319171 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:9005249 Immunodeficiency 103 ISO RGD:1319171 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS PMID:28492532 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1319171 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:9007986 NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION ISO RGD:1319171 D RGD:7240710 20231115 OMIM 9056221 Snapc4 small nuclear RNA activating complex polypeptide 4 gene DOID:9007986 NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION ISO RGD:1319171 D RGD:8554872 20231114 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction PMID:36965478 9056278 Rprd1a regulation of nuclear pre-mRNA domain containing 1A gene DOID:1059 intellectual disability ISO RGD:1605654 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9056278 Rprd1a regulation of nuclear pre-mRNA domain containing 1A gene DOID:630 genetic disease ISO RGD:1605654 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056290 Fam181b family with sequence similarity 181 member B gene DOID:1059 intellectual disability ISO RGD:1605261 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9056290 Fam181b family with sequence similarity 181 member B gene DOID:630 genetic disease ISO RGD:1605261 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056296 Lmnb2 lamin B2 gene DOID:0080299 partial lipodystrophy ISO RGD:1345535 D RGD:7240710 20240308 OMIM 9056296 Lmnb2 lamin B2 gene DOID:0080299 partial lipodystrophy ISO RGD:1345535 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: APLD, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Acquired partial lipodystrophy | ClinVar Annotator: match by term: Lipodystrophy, partial, acquired, susceptibility to PMID:16826530|PMID:22768673|PMID:22995991|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532 9056296 Lmnb2 lamin B2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345535 D RGD:7240710 20240308 OMIM 9056296 Lmnb2 lamin B2 gene DOID:0111450 progressive myoclonus epilepsy 9 ISO RGD:1345535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 PMID:16826530|PMID:17576681|PMID:22768673|PMID:22995991|PMID:25741868|PMID:25954030|PMID:26467025|PMID:27535533|PMID:28166811|PMID:28492532|PMID:32041611|PMID:9536098 9056296 Lmnb2 lamin B2 gene DOID:630 genetic disease ISO RGD:1345535 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 9056296 Lmnb2 lamin B2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1345535 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9056296 Lmnb2 lamin B2 gene DOID:9002951 Primary Autosomal Recessive Microcephaly 27 ISO RGD:1345535 D RGD:7240710 20240308 OMIM 9056296 Lmnb2 lamin B2 gene DOID:9002951 Primary Autosomal Recessive Microcephaly 27 ISO RGD:1345535 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant PMID:25741868|PMID:33033404 9056296 Lmnb2 lamin B2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9056296 Lmnb2 lamin B2 gene DOID:9005154 Myoclonic Epilepsies ISO RGD:1345535 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:28492532 9056307 Ppp1r35 protein phosphatase 1 regulatory subunit 35 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9056307 Ppp1r35 protein phosphatase 1 regulatory subunit 35 gene DOID:630 genetic disease ISO RGD:1604503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:0050083 Keshan disease ISO RGD:730870 D RGD:9068941 20210326 RGD mRNA,protein:increased expression:blood cells, serum: PMID:26893848|REF_RGD_ID:124713562 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:22660220|REF_RGD_ID:14700952 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:0060041 autism spectrum disorder ISO RGD:730870 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:0060180 colitis ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA:increased expression:large intestine epithelium PMID:21374063|REF_RGD_ID:5147670 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:0080855 Parkinsonism ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum PMID:18374908|REF_RGD_ID:5147675 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:10283 prostate cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:12949934|REF_RGD_ID:14700953 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:10534 stomach cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:16270381|REF_RGD_ID:14700945 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:10763 hypertension ISO RGD:10436 D RGD:9068941 20200609 RGD PMID:20634294|REF_RGD_ID:7257731 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:10763 hypertension ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20634294|PMID:22995157 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:10763 hypertension treatment ISO RGD:2458 D RGD:9068941 20230824 RGD PMID:23528973|PMID:30127255|PMID:31489946|REF_RGD_ID:401793709|REF_RGD_ID:401793732|REF_RGD_ID:401793758 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:10892 hypospadias ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:15579657|REF_RGD_ID:11576312 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:10892 hypospadias no_association ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:21300689|REF_RGD_ID:11576313 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:10952 nephritis ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:kidney PMID:21907489|REF_RGD_ID:7175305 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:11054 urinary bladder cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:21990318|REF_RGD_ID:7257730 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:11054 urinary bladder cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :2455A>G (human) PMID:18979064|REF_RGD_ID:7257733 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:11054 urinary bladder cancer no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :3801T>C (human) PMID:18200441|REF_RGD_ID:7257736 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:114 heart disease ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart PMID:23391631|REF_RGD_ID:7296941 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:11612 polycystic ovary syndrome ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:18339256|REF_RGD_ID:11576309 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:11836 clubfoot ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) PMID:21254355|REF_RGD_ID:11576307 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:11934 head and neck cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:16721740|REF_RGD_ID:14700978 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:11934 head and neck cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:hypermethylation PMID:20846153|REF_RGD_ID:14700957 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2458 D RGD:9068941 20230824 RGD mRNA:increased expression:heatt (rat) PMID:24247421|REF_RGD_ID:401793741 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:2458 D RGD:9068941 20230831 RGD mRNA, protein:increased expression:heart (rat) PMID:19889059|REF_RGD_ID:401794453 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:1205 allergic disease ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:12336 male infertility ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19303595 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:12361 Graves' disease ISO RGD:730870 D RGD:9068941 20200609 RGD associated with Herpesviridae Infections PMID:19903800|REF_RGD_ID:5147671 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:12894 Sjogren's syndrome ISO RGD:730870 D RGD:9068941 20200609 RGD associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human) PMID:12590982|REF_RGD_ID:5147747 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:12930 dilated cardiomyopathy ISO RGD:730870 D RGD:9068941 20210326 RGD mRNA,protein:increased expression:blood cells, serum: PMID:26893848|REF_RGD_ID:124713562 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:1324 lung cancer ISO RGD:730870 D RGD:9068941 20200609 RGD associated with Pulmonary Emphysema;DNA:polymorphism: :p.I462V (human) PMID:16696009|REF_RGD_ID:4892075 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:13241 Behcet's disease ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNPs: :4889A>G, 4887C>A (human) PMID:15088300|REF_RGD_ID:8552789 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:1380 endometrial cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs4646903 T/T genotype, rs4646903-rs1048943 T-A haplotype, rs4646903 (TT) combined with SULT1A1 SNP rs9282861 (GA + AA) or rs4646903 (TT) combined with SULT1E1 SNP rs3736599 (GA+AA) PMID:18318428|REF_RGD_ID:2301040 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:14330 Parkinson's disease no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I462V (human) PMID:11793160|REF_RGD_ID:5147678 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:14330 Parkinson's disease no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms (human) PMID:11484167|REF_RGD_ID:5147679 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:14330 Parkinson's disease susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.I462V (human) PMID:8872868|REF_RGD_ID:5147681 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:1485 cystic fibrosis severity ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:14593914|REF_RGD_ID:4889126 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:1612 breast cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP:3' utr:6235T>C (human) PMID:21418988|REF_RGD_ID:8552792 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:1612 breast cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP::rs4646903 (human) PMID:18497059|REF_RGD_ID:2301045 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:1612 breast cancer no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :p.I462V (rs1048943) (human) PMID:17603290|REF_RGD_ID:8552794 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:1612 breast cancer no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple PMID:9426059|REF_RGD_ID:8552810 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:1612 breast cancer no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:transitions:exon, 3' utr:4889A>G, 6235T>C (human) PMID:12496044|REF_RGD_ID:8552799 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:730870 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:2717 Bloom syndrome ISO RGD:730870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:2773 contact dermatitis ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:2841 asthma ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA, protein:increased expression, decreased activity:lung PMID:12415424|REF_RGD_ID:4892074 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:2843 long QT syndrome ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26988683 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:289 endometriosis ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:18849443|REF_RGD_ID:5147674 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:3021 acute kidney failure treatment ISO RGD:10436 D RGD:9068941 20200609 RGD PMID:18495746|PMID:19890363|REF_RGD_ID:7257732|REF_RGD_ID:7257735 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:3042 allergic contact dermatitis ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11312644|PMID:19022366 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:3083 chronic obstructive pulmonary disease no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :2455A>G, 3801T>C (human) PMID:18389617|REF_RGD_ID:4892071 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:19507017|REF_RGD_ID:4892045 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:3083 chronic obstructive pulmonary disease susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.I462V, 3801T>C (human) PMID:20080081|REF_RGD_ID:4293707 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:3121 gallbladder cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I462V (human) PMID:18990008|REF_RGD_ID:2317211 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:3121 gallbladder cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:transition: :6235T>C (human) PMID:18287863|REF_RGD_ID:2317212 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:3132 porphyria cutanea tarda ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:14714565|REF_RGD_ID:11576310 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:3310 atopic dermatitis ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27869817 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:341 peripheral vascular disease ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:11860825|REF_RGD_ID:14700943 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:4450 renal cell carcinoma ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:11115552|REF_RGD_ID:7296938 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:4450 renal cell carcinoma ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:9631944|REF_RGD_ID:7296939 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:4450 renal cell carcinoma ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.I462V (human) PMID:22296350|REF_RGD_ID:7257729 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:4450 renal cell carcinoma no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNPs: :6235T>C, 4889A>G, 4887C>A (human) PMID:22000673|REF_RGD_ID:7296937 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:4607 biliary tract cancer ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:rs2606345 (human) PMID:19168589|REF_RGD_ID:2317210 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:5041 esophageal cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:11833070|PMID:26782562|REF_RGD_ID:11554919|REF_RGD_ID:14700950 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:5419 schizophrenia ISO RGD:730870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:552 pneumonia susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15928955|REF_RGD_ID:4142512 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:6132 bronchitis ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:14593914|REF_RGD_ID:4889126 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:6196 reactive arthritis ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :4887C>A (human) PMID:14687717|REF_RGD_ID:1581251 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:630 genetic disease ISO RGD:730870 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:6432 pulmonary hypertension ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:28956952|REF_RGD_ID:13702097 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:684 hepatocellular carcinoma ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15341023 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:7147 ankylosing spondylitis ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :4887C>A (human) PMID:12880680|REF_RGD_ID:1581252 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:783 end stage renal disease ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:intestine PMID:12039987|REF_RGD_ID:7296923 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:783 end stage renal disease ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms:exon, 3' utr:3801T>C (rs4646903), p.I462V (rs1048943) (human) PMID:23619522|REF_RGD_ID:7257728 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:824 periodontitis ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:15491310|REF_RGD_ID:14700983 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:8552 chronic myeloid leukemia treatment ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:4889A>G(p.I462V)(human) PMID:26464823|REF_RGD_ID:11352729 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:8618 oral cavity cancer ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:17461521|REF_RGD_ID:14700965 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:8893 psoriasis susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:missense mutation, SNP:exon, 3' utr:2455A>G, 3801T>C (human) PMID:12713578|REF_RGD_ID:5147677 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:2458 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney cortex, kidney medulla, liver (rat) PMID:32416216|REF_RGD_ID:401793731 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9000310 Lung Injury ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24893714|PMID:25703676 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9000363 Hematuria ISO RGD:730870 D RGD:9068941 20210212 CTD CTD Direct Evidence: marker/mechanism PMID:29027484 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:2458 D RGD:9068941 20230812 RGD associated with hypertension PMID:30127255|REF_RGD_ID:401793709 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:2458 D RGD:9068941 20230824 RGD PMID:31489946|REF_RGD_ID:401793758 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:22687991|REF_RGD_ID:7296954 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9002159 Liver Reperfusion Injury ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung PMID:19595018|REF_RGD_ID:2314952 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:18442069|REF_RGD_ID:11576311 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA:increased expression:placenta PMID:16225763|REF_RGD_ID:2306659 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:730870 D RGD:9068941 20200609 RGD PMID:17706398|REF_RGD_ID:11576317 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9002265 Kidney Neoplasms ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15003126 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11275366|PMID:17919073 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9002564 Arteritis ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9002992 Nematode Infections ISO RGD:2458 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:12621079|REF_RGD_ID:2306675 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9003139 Cardiac Fibrosis treatment ISO RGD:2458 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9003281 Spontaneous Abortions ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19022366|PMID:26593447 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9003936 Cardiomegaly ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18725507 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:2458 D RGD:9068941 20230817 RGD PMID:23528973|REF_RGD_ID:401793732 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9003996 Birth Weight ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27592400 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9004237 Hyperoxic Lung Injury ISO RGD:10436 D RGD:9068941 20200609 RGD PMID:24893714|REF_RGD_ID:11576306 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:10436 D RGD:9068941 20200609 RGD PMID:21745492|REF_RGD_ID:11576318 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9004237 Hyperoxic Lung Injury treatment ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:15958656|REF_RGD_ID:4892072 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9004351 Digestive System Neoplasms ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:rs1048943 (human) PMID:19168589|REF_RGD_ID:2317210 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9004484 Sepsis ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:15665729|REF_RGD_ID:5147745 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9004610 Acute Lung Injury ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:18367723|REF_RGD_ID:5135235 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9004610 Acute Lung Injury ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:16882535|REF_RGD_ID:5147744 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9004898 Jaundice ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:8502229|REF_RGD_ID:11576308 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9005236 Drug Eruptions ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19351467 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9005369 Hepatomegaly ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28108177 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9005372 Inflammation ISO RGD:2458 D RGD:9068941 20200609 RGD PMID:16006567|REF_RGD_ID:5147676 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9005463 Occupational Diseases ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16737584 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2458 D RGD:9068941 20200609 RGD protein:increased expression:liver, microsome (rat) PMID:10711628|REF_RGD_ID:2307074 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22342832 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:2458 D RGD:9068941 20240118 RGD mRNA:increased expression:lung (rat) PMID:33836606|REF_RGD_ID:401940192 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:2458 D RGD:9068941 20230831 RGD PMID:23644946|REF_RGD_ID:401794573 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9006638 Sinus Tachycardia ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26988683 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23138419 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9007001 Bradycardia ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26988683 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9007174 Ventricular Remodeling ISO RGD:2458 D RGD:9068941 20230826 RGD associated with diesel exhaust particulates exposure; protein:increased expression:heart left ventricle (rat) PMID:23887904|REF_RGD_ID:401794424 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9007253 Hamartoma ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21998131 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:730870 D RGD:9068941 20220114 CTD CTD Direct Evidence: marker/mechanism PMID:33814510 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9007480 Hyperoxia ISO RGD:10436 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, lung PMID:15123765|REF_RGD_ID:4892073 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9007480 Hyperoxia ISO RGD:2458 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, lung (rat) PMID:8267628|REF_RGD_ID:2307076 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9007480 Hyperoxia ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24893714 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9007639 Metabolic Side Effects of Drugs and Substances ISO RGD:2458 D RGD:9068941 20231116 RGD Associated with incense smoke exposure;mRNA:increased expression:heart (rat) PMID:25687613|REF_RGD_ID:401900684 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9007651 Chronic Bronchitis susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism (human) PMID:15928955|REF_RGD_ID:4142512 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9008 psoriatic arthritis susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms: :4887C>A, 4889A>G (human) PMID:15124938|REF_RGD_ID:5147746 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9008939 Breast Neoplasms ISO RGD:730870 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16792888 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9074 systemic lupus erythematosus ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :4887C>A (human) PMID:14611903|REF_RGD_ID:1581249 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9074 systemic lupus erythematosus ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :p.I462V (human) PMID:10599336|REF_RGD_ID:5147680 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9074 systemic lupus erythematosus susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:3' utr:3801T>C (rs4646903) PMID:19561157|REF_RGD_ID:5147672 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9119 acute myeloid leukemia ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :6235T>C (human) PMID:19456854|REF_RGD_ID:10769358 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism: :6235T>C (human) PMID:15996939|REF_RGD_ID:11352736 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9119 acute myeloid leukemia no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:SNP: :4889A>G (human) PMID:19456854|REF_RGD_ID:10769358 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9256 colorectal cancer ISO RGD:730870 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:28492532 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9351 diabetes mellitus ISO RGD:730870 D RGD:9068941 20200609 RGD associated with Smoking Inhalation Injury; DNA:polymorphism:3' UTR:5639T>C (human) PMID:11996959|REF_RGD_ID:2307073 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:3' UTR:5639T>C (human) PMID:11996959|REF_RGD_ID:2307073 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9538 multiple myeloma susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) PMID:18285692|REF_RGD_ID:11352726 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9952 acute lymphoblastic leukemia no_association ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:3'UTR:3801T>C(human) PMID:16676594|REF_RGD_ID:11352728 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:3"UTR:rs4646903(human) PMID:22964275|REF_RGD_ID:11352714 9056314 LOC102010850 cytochrome P450 1A1 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:730870 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:2452C>A(p.T461N)(human) PMID:23725389|REF_RGD_ID:11352725 9056329 Cnst consortin, connexin sorting protein gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:1606946 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 9056329 Cnst consortin, connexin sorting protein gene DOID:1540 parathyroid carcinoma ISO RGD:1606946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9056329 Cnst consortin, connexin sorting protein gene DOID:50 thyroid gland disease ISO RGD:1606946 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23397585 9056329 Cnst consortin, connexin sorting protein gene DOID:630 genetic disease ISO RGD:1606946 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056329 Cnst consortin, connexin sorting protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606946 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:1313502 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:22922605|REF_RGD_ID:14975251 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:0080546 non-alcoholic fatty liver ISO RGD:1313503 D RGD:9068941 20200609 RGD protein:increased expression:liver,serum PMID:18710424|REF_RGD_ID:14975250 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:0110818 hereditary spastic paraplegia 73 ISO RGD:1313502 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 PMID:25741868 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:0111041 glycogen storage disease IXB ISO RGD:1313502 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:1059 intellectual disability ISO RGD:1313502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28492532 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:3571 liver cancer treatment ISO RGD:1313502 D RGD:9068941 20200609 RGD PMID:22922605|REF_RGD_ID:14975251 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:630 genetic disease ISO RGD:1313502 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24901346|PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:29882329|PMID:32214227 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9002164 Mental Retardation, Autosomal Recessive 49 ISO RGD:1313502 D RGD:7240710 20180130 OMIM 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9002164 Mental Retardation, Autosomal Recessive 49 ISO RGD:1313502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GPT2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:29226631|PMID:29882329|PMID:31471722|PMID:32214227 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9002164 Mental Retardation, Autosomal Recessive 49 ISO RGD:1313502 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: GPT2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia PMID:24901346|PMID:25741868|PMID:25758935|PMID:27601654|PMID:28374019|PMID:29226631|PMID:29882329|PMID:31471722|PMID:32214227 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9004017 Chronic Hepatitis C ISO RGD:1313502 D RGD:9068941 20200609 RGD protein:increased activity:plasma PMID:22922605|REF_RGD_ID:14975251 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1313502 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:30057029 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1305462 D RGD:9068941 20200609 RGD protein:increased expression, activity:serum: PMID:19085960|REF_RGD_ID:14975249 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1313503 D RGD:9068941 20200609 RGD protein:increased expression, activity:serum: PMID:19085960|REF_RGD_ID:14975249 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1305462 D RGD:9068941 20200609 RGD protein:increased expression, activity:liver: PMID:25865565|REF_RGD_ID:11342811 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9452 steatotic liver disease ISO RGD:1313503 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:15122758|REF_RGD_ID:14975241 9056350 Gpt2 glutamic--pyruvic transaminase 2 gene DOID:9970 obesity ISO RGD:1313503 D RGD:9068941 20200609 RGD protein:increased expression, activity:liver: PMID:25865565|REF_RGD_ID:11342811 9056370 Myo18a myosin XVIIIA gene DOID:10283 prostate cancer ISO RGD:1605490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 9056370 Myo18a myosin XVIIIA gene DOID:630 genetic disease ISO RGD:1605490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056370 Myo18a myosin XVIIIA gene DOID:9008386 Hydrops Fetalis ISO RGD:1605490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hydrops fetalis PMID:25741868 9056455 Dgke diacylglycerol kinase epsilon gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1347499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 PMID:23274426|PMID:23542698|PMID:24511134|PMID:24747643|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28492532|PMID:28496993|PMID:29590070 9056455 Dgke diacylglycerol kinase epsilon gene DOID:0080388 nephrotic syndrome type 7 ISO RGD:1347499 D RGD:7240710 20240320 OMIM 9056455 Dgke diacylglycerol kinase epsilon gene DOID:0080388 nephrotic syndrome type 7 ISO RGD:1347499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7 PMID:23274426|PMID:23542698|PMID:24747643|PMID:25135762|PMID:25349199|PMID:25741868|PMID:25854283|PMID:28056875|PMID:28492532|PMID:28496993|PMID:29127259|PMID:29590070 9056455 Dgke diacylglycerol kinase epsilon gene DOID:0110980 Joubert syndrome 1 ISO RGD:1347499 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9056455 Dgke diacylglycerol kinase epsilon gene DOID:1184 nephrotic syndrome ISO RGD:1347499 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:23274426|PMID:25349199|PMID:25741868|PMID:29127259 9056455 Dgke diacylglycerol kinase epsilon gene DOID:12554 hemolytic-uremic syndrome ISO RGD:1347499 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemolytic-uremic syndrome PMID:25854283 9056455 Dgke diacylglycerol kinase epsilon gene DOID:557 kidney disease ISO RGD:1347499 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 9056455 Dgke diacylglycerol kinase epsilon gene DOID:630 genetic disease ISO RGD:1347499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9056474 Kdm2b lysine demethylase 2B gene DOID:0080074 neural tube defect ISO RGD:1320990 D RGD:9068941 20200609 RGD PMID:21220025|REF_RGD_ID:9588256 9056474 Kdm2b lysine demethylase 2B gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1310217 D RGD:9068941 20200609 RGD DNA:insertions:promoter:multiple (rat) PMID:18250326|REF_RGD_ID:9588252 9056474 Kdm2b lysine demethylase 2B gene DOID:3587 pancreatic ductal carcinoma severity ISO RGD:1320989 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pancreas (human) PMID:23321669|REF_RGD_ID:9588253 9056474 Kdm2b lysine demethylase 2B gene DOID:5419 schizophrenia ISO RGD:1320989 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21743468 9056474 Kdm2b lysine demethylase 2B gene DOID:627 severe combined immunodeficiency ISO RGD:1320989 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:25741868 9056474 Kdm2b lysine demethylase 2B gene DOID:630 genetic disease ISO RGD:1320989 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:35904121|PMID:36322151 9056474 Kdm2b lysine demethylase 2B gene DOID:9008086 Developmental Disabilities ISO RGD:1320989 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9056474 Kdm2b lysine demethylase 2B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1320989 D RGD:9068941 20200609 RGD mRNA:increased expression:bone marrow (human) PMID:21310926|REF_RGD_ID:9588255 9056547 Smyd4 SET and MYND domain containing 4 gene DOID:0050902 medulloblastoma ISO RGD:1316528 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19270706 9056547 Smyd4 SET and MYND domain containing 4 gene DOID:630 genetic disease ISO RGD:1316528 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056569 Zmym6 zinc finger MYM-type containing 6 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1345857 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9056569 Zmym6 zinc finger MYM-type containing 6 gene DOID:630 genetic disease ISO RGD:1345857 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056618 Bcl2l1 BCL2 like 1 gene DOID:0050861 colorectal adenocarcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:colonic mucosa (human) PMID:8625322|REF_RGD_ID:11353854 9056618 Bcl2l1 BCL2 like 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:735516 D RGD:9068941 20220826 RGD mRNA, protein:increased expression:mouth (human) PMID:34111459|REF_RGD_ID:153344573 9056618 Bcl2l1 BCL2 like 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 9056618 Bcl2l1 BCL2 like 1 gene DOID:0080630 B-lymphoblastic leukemia/lymphoma severity ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:18216295|REF_RGD_ID:11531108 9056618 Bcl2l1 BCL2 like 1 gene DOID:10286 prostate carcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:17653717|REF_RGD_ID:1643474 9056618 Bcl2l1 BCL2 like 1 gene DOID:1037 lymphoid leukemia ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:21998213|REF_RGD_ID:11353857 9056618 Bcl2l1 BCL2 like 1 gene DOID:10534 stomach cancer ameliorates ISO RGD:735516 D RGD:9068941 20211029 RGD human cells in mouse model PMID:26432329|REF_RGD_ID:150520156 9056618 Bcl2l1 BCL2 like 1 gene DOID:10652 Alzheimer's disease ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:temporal cortex, membrane PMID:9507158|REF_RGD_ID:10053642 9056618 Bcl2l1 BCL2 like 1 gene DOID:10808 gastric ulcer treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:24378970|REF_RGD_ID:10053695 9056618 Bcl2l1 BCL2 like 1 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:18342927|REF_RGD_ID:2292910 9056618 Bcl2l1 BCL2 like 1 gene DOID:11383 cryptorchidism ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26050606 9056618 Bcl2l1 BCL2 like 1 gene DOID:127 leiomyoma ISO RGD:735516 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:myometrium PMID:16962107|REF_RGD_ID:1643479 9056618 Bcl2l1 BCL2 like 1 gene DOID:12930 dilated cardiomyopathy ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:26004897|REF_RGD_ID:13782348 9056618 Bcl2l1 BCL2 like 1 gene DOID:1380 endometrial cancer ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:17311011|REF_RGD_ID:1643476 9056618 Bcl2l1 BCL2 like 1 gene DOID:13955 uterus interstitial leiomyoma ISO RGD:735516 D RGD:9068941 20200609 RGD associated with Carcinoma, Renal Cell;protein:increased expression:uterus PMID:16962107|REF_RGD_ID:1643479 9056618 Bcl2l1 BCL2 like 1 gene DOID:1596 depressive disorder treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:21308783|REF_RGD_ID:10054142 9056618 Bcl2l1 BCL2 like 1 gene DOID:1612 breast cancer ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:16850344|REF_RGD_ID:1643481 9056618 Bcl2l1 BCL2 like 1 gene DOID:1793 pancreatic cancer ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16904634 9056618 Bcl2l1 BCL2 like 1 gene DOID:1793 pancreatic cancer severity ISO RGD:735516 D RGD:9068941 20200609 RGD human gene in a mouse model PMID:17941720|REF_RGD_ID:11353794 9056618 Bcl2l1 BCL2 like 1 gene DOID:1824 status epilepticus ISO RGD:2200 D RGD:9068941 20200609 RGD mRNA:increased expression:dentate gyrus (rat) PMID:24051278|REF_RGD_ID:11352818 9056618 Bcl2l1 BCL2 like 1 gene DOID:1875 impotence ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:12394778|REF_RGD_ID:1579980 9056618 Bcl2l1 BCL2 like 1 gene DOID:1875 impotence ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12394778 9056618 Bcl2l1 BCL2 like 1 gene DOID:1909 melanoma disease_progression ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:skin, subcutaneous tissue (human) PMID:17384650|REF_RGD_ID:11353861 9056618 Bcl2l1 BCL2 like 1 gene DOID:2154 nephroblastoma disease_progression ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:15717629|REF_RGD_ID:1643482 9056618 Bcl2l1 BCL2 like 1 gene DOID:2316 brain ischemia ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:22843461|REF_RGD_ID:10053716 9056618 Bcl2l1 BCL2 like 1 gene DOID:2316 brain ischemia ISO RGD:2200 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:17706879|REF_RGD_ID:1643491 9056618 Bcl2l1 BCL2 like 1 gene DOID:2671 transitional cell carcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:18047955|REF_RGD_ID:1643477 9056618 Bcl2l1 BCL2 like 1 gene DOID:289 endometriosis treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:25937801|REF_RGD_ID:11353846 9056618 Bcl2l1 BCL2 like 1 gene DOID:3021 acute kidney failure ISO RGD:2200 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:20037173|REF_RGD_ID:10053672 9056618 Bcl2l1 BCL2 like 1 gene DOID:305 carcinoma ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811 9056618 Bcl2l1 BCL2 like 1 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735516 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood, neutrophil (human) PMID:22686245|REF_RGD_ID:11353864 9056618 Bcl2l1 BCL2 like 1 gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:10582606|REF_RGD_ID:13506907 9056618 Bcl2l1 BCL2 like 1 gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:18543336|REF_RGD_ID:13506902 9056618 Bcl2l1 BCL2 like 1 gene DOID:3459 breast carcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:16886624|REF_RGD_ID:1643480 9056618 Bcl2l1 BCL2 like 1 gene DOID:3602 toxic encephalopathy ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 9056618 Bcl2l1 BCL2 like 1 gene DOID:409 liver disease ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 9056618 Bcl2l1 BCL2 like 1 gene DOID:4362 cervical cancer ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:17311011|REF_RGD_ID:1643476 9056618 Bcl2l1 BCL2 like 1 gene DOID:4450 renal cell carcinoma ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:12025227|REF_RGD_ID:1643483 9056618 Bcl2l1 BCL2 like 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:735516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9056618 Bcl2l1 BCL2 like 1 gene DOID:5844 myocardial infarction ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:17467744|REF_RGD_ID:1643494 9056618 Bcl2l1 BCL2 like 1 gene DOID:5844 myocardial infarction ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20079142 9056618 Bcl2l1 BCL2 like 1 gene DOID:630 genetic disease ISO RGD:735516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056618 Bcl2l1 BCL2 like 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:22559233|REF_RGD_ID:10400914 9056618 Bcl2l1 BCL2 like 1 gene DOID:6536 plasma cell neoplasm severity ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:15725478|REF_RGD_ID:11353872 9056618 Bcl2l1 BCL2 like 1 gene DOID:657 adenoma ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811 9056618 Bcl2l1 BCL2 like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:1552009 D RGD:9068941 20210702 RGD mRNA:increased expression:liver (mouse) PMID:28100771|REF_RGD_ID:127285675 9056618 Bcl2l1 BCL2 like 1 gene DOID:684 hepatocellular carcinoma ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10629087|PMID:11509945 9056618 Bcl2l1 BCL2 like 1 gene DOID:684 hepatocellular carcinoma treatment ISO RGD:2200 D RGD:9068941 20220714 RGD PMID:33841550|REF_RGD_ID:152998960 9056618 Bcl2l1 BCL2 like 1 gene DOID:74 hematopoietic system disease severity ISO RGD:735516 D RGD:9068941 20200609 RGD protein:altered expression:mononuclear cell of bone marrow (human) PMID:12111784|REF_RGD_ID:11353871 9056618 Bcl2l1 BCL2 like 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:20728382|REF_RGD_ID:11353850 9056618 Bcl2l1 BCL2 like 1 gene DOID:8997 polycythemia vera ISO RGD:735516 D RGD:9068941 20200609 RGD protein:increased expression:bone marrow, erythroid cell (human) PMID:9475763|REF_RGD_ID:11353849 9056618 Bcl2l1 BCL2 like 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:26401016 9056618 Bcl2l1 BCL2 like 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:22414765|REF_RGD_ID:11353865 9056618 Bcl2l1 BCL2 like 1 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10426811|PMID:28100771 9056618 Bcl2l1 BCL2 like 1 gene DOID:9001708 Hemorrhagic Shock ISO RGD:2200 D RGD:9068941 20200609 RGD protein:increased expression:liver, mitochondrion PMID:17224795|REF_RGD_ID:1643525 9056618 Bcl2l1 BCL2 like 1 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:23056591|REF_RGD_ID:10053711 9056618 Bcl2l1 BCL2 like 1 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:2200 D RGD:9068941 20200609 RGD associated with Non-alcoholic Fatty Liver Disease PMID:22847887|REF_RGD_ID:10053710 9056618 Bcl2l1 BCL2 like 1 gene DOID:9002676 Cerebral Hemorrhage ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12721362 9056618 Bcl2l1 BCL2 like 1 gene DOID:9002762 Ovarian Neoplasms ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:17675586|REF_RGD_ID:1643478 9056618 Bcl2l1 BCL2 like 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:24195677|REF_RGD_ID:10053669 9056618 Bcl2l1 BCL2 like 1 gene DOID:9004538 Hearing Loss ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17697574 9056618 Bcl2l1 BCL2 like 1 gene DOID:9005172 Lung Neoplasms ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16007126 9056618 Bcl2l1 BCL2 like 1 gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:23404339|REF_RGD_ID:10053670 9056618 Bcl2l1 BCL2 like 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2200 D RGD:9068941 20200609 RGD protein:decreased expression, altered activity:testis PMID:17870134|REF_RGD_ID:2292685 9056618 Bcl2l1 BCL2 like 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961 9056618 Bcl2l1 BCL2 like 1 gene DOID:9006169 Head and Neck Neoplasms ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18566236 9056618 Bcl2l1 BCL2 like 1 gene DOID:9006928 Viral Bronchiolitis severity ISO RGD:735516 D RGD:9068941 20201218 RGD protein:increased expression:natural killer cell,t cell (human) PMID:26541527|REF_RGD_ID:40902860 9056618 Bcl2l1 BCL2 like 1 gene DOID:9007096 Stroke ISO RGD:1552009 D RGD:9068941 20200609 RGD protein:altered localization:cerebral cortex (mouse) PMID:17301160|REF_RGD_ID:11353792 9056618 Bcl2l1 BCL2 like 1 gene DOID:9007558 Acute Experimental Pancreatitis ISO RGD:2200 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, mitochondrion (rat) PMID:19331832|REF_RGD_ID:11353791 9056618 Bcl2l1 BCL2 like 1 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2200 D RGD:9068941 20200609 RGD PMID:12668130|REF_RGD_ID:11035287 9056618 Bcl2l1 BCL2 like 1 gene DOID:9008939 Breast Neoplasms ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:17675586|REF_RGD_ID:1643478 9056618 Bcl2l1 BCL2 like 1 gene DOID:9119 acute myeloid leukemia severity ISO RGD:735516 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood, bone marrow, blast cell (human) PMID:11410409|REF_RGD_ID:11353851 9056618 Bcl2l1 BCL2 like 1 gene DOID:9282 ocular hypertension ISO RGD:2200 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:17640403|REF_RGD_ID:1643493 9056618 Bcl2l1 BCL2 like 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16959961 9056618 Bcl2l1 BCL2 like 1 gene DOID:9538 multiple myeloma ISO RGD:1552009 D RGD:9068941 20200609 RGD PMID:14656874|REF_RGD_ID:11353847 9056618 Bcl2l1 BCL2 like 1 gene DOID:9538 multiple myeloma ISO RGD:735516 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12429644 9056618 Bcl2l1 BCL2 like 1 gene DOID:9952 acute lymphoblastic leukemia ISO RGD:735516 D RGD:9068941 20200609 RGD mRNA:increased expression:blood, mononuclear cell (human) PMID:19020783|REF_RGD_ID:11353866 9056618 Bcl2l1 BCL2 like 1 gene DOID:9952 acute lymphoblastic leukemia treatment ISO RGD:735516 D RGD:9068941 20200609 RGD PMID:12469194|REF_RGD_ID:11353852 9056648 Lhfpl6 LHFPL tetraspan subfamily member 6 gene DOID:630 genetic disease ISO RGD:1347444 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056648 Lhfpl6 LHFPL tetraspan subfamily member 6 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1347444 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9056656 Gtf3c3 general transcription factor IIIC subunit 3 gene DOID:630 genetic disease ISO RGD:1319385 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056656 Gtf3c3 general transcription factor IIIC subunit 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319385 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28097321|PMID:28940097|PMID:30552426 9056678 Znf182 zinc finger protein 182 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9056678 Znf182 zinc finger protein 182 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 PMID:28492532 9056678 Znf182 zinc finger protein 182 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:28492532 9056678 Znf182 zinc finger protein 182 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 PMID:28492532 9056678 Znf182 zinc finger protein 182 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1342789 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 9056678 Znf182 zinc finger protein 182 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1342789 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:10698340|PMID:10909851|PMID:12969986|PMID:15284122|PMID:19328743|PMID:22229731|PMID:28492532|PMID:28901403|PMID:8530058|PMID:9476131 9056678 Znf182 zinc finger protein 182 gene DOID:12849 autistic disorder ISO RGD:1342789 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9056678 Znf182 zinc finger protein 182 gene DOID:630 genetic disease ISO RGD:1342789 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056695 Slamf1 signaling lymphocytic activation molecule family member 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1344109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 9056695 Slamf1 signaling lymphocytic activation molecule family member 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1344109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9056695 Slamf1 signaling lymphocytic activation molecule family member 1 gene DOID:630 genetic disease ISO RGD:1344109 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056695 Slamf1 signaling lymphocytic activation molecule family member 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1344109 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9056715 Fam234b family with sequence similarity 234 member B gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1605976 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 9056715 Fam234b family with sequence similarity 234 member B gene DOID:630 genetic disease ISO RGD:1605976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056732 Parp12 poly(ADP-ribose) polymerase family member 12 gene DOID:0080690 RASopathy ISO RGD:1318511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:12414817|PMID:16611712|PMID:28492532 9056732 Parp12 poly(ADP-ribose) polymerase family member 12 gene DOID:4448 macular degeneration ISO RGD:1318511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30742112 9056732 Parp12 poly(ADP-ribose) polymerase family member 12 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1318511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9056732 Parp12 poly(ADP-ribose) polymerase family member 12 gene DOID:630 genetic disease ISO RGD:1318511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056732 Parp12 poly(ADP-ribose) polymerase family member 12 gene DOID:9001488 Human Influenza ISO RGD:1318511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 9056748 Bcl6 BCL6 transcription repressor gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:1319642 D RGD:9068941 20200609 RGD diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region PMID:11821949|REF_RGD_ID:1600111 9056748 Bcl6 BCL6 transcription repressor gene DOID:0050745 diffuse large B-cell lymphoma disease_progression ISO RGD:1319642 D RGD:9068941 20200609 RGD PMID:15701085|REF_RGD_ID:11530023 9056748 Bcl6 BCL6 transcription repressor gene DOID:0060060 non-Hodgkin lymphoma ISO RGD:1319642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25543051 9056748 Bcl6 BCL6 transcription repressor gene DOID:0081312 T-cell non-Hodgkin lymphoma ISO RGD:1319642 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15375218 9056748 Bcl6 BCL6 transcription repressor gene DOID:5419 schizophrenia ISO RGD:1319642 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9056748 Bcl6 BCL6 transcription repressor gene DOID:630 genetic disease ISO RGD:1319642 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056748 Bcl6 BCL6 transcription repressor gene DOID:707 B-cell lymphoma ISO RGD:1319642 D RGD:9068941 20200609 RGD diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region PMID:11821949|REF_RGD_ID:1600111 9056785 Gspt1 G1 to S phase transition 1 gene DOID:5419 schizophrenia ISO RGD:1344503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9056785 Gspt1 G1 to S phase transition 1 gene DOID:630 genetic disease ISO RGD:1344503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056815 Crtc2 CREB regulated transcription coactivator 2 gene DOID:0070048 GAND syndrome ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GAND SYNDROME PMID:21681106 9056815 Crtc2 CREB regulated transcription coactivator 2 gene DOID:0111940 immunodeficiency 42 ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9056815 Crtc2 CREB regulated transcription coactivator 2 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9056815 Crtc2 CREB regulated transcription coactivator 2 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1603540 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9056815 Crtc2 CREB regulated transcription coactivator 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9056815 Crtc2 CREB regulated transcription coactivator 2 gene DOID:5812 MHC class II deficiency ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9056815 Crtc2 CREB regulated transcription coactivator 2 gene DOID:630 genetic disease ISO RGD:1603540 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056815 Crtc2 CREB regulated transcription coactivator 2 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1308903 D RGD:9068941 20200609 RGD PMID:23595987|REF_RGD_ID:9685169 9056815 Crtc2 CREB regulated transcription coactivator 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1603540 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9056815 Crtc2 CREB regulated transcription coactivator 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1308903 D RGD:9068941 20200609 RGD PMID:23595987|REF_RGD_ID:9685169 9056815 Crtc2 CREB regulated transcription coactivator 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1308903 D RGD:9068941 20200609 RGD PMID:19706791|REF_RGD_ID:9685172 9056815 Crtc2 CREB regulated transcription coactivator 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1332035 D RGD:9068941 20200609 RGD PMID:19706791|REF_RGD_ID:9685172 9056842 Gtf2e2 general transcription factor IIE subunit 2 gene DOID:0111872 nonphotosensitive trichothiodystrophy 6 ISO RGD:1320859 D RGD:7240710 20190315 OMIM 9056842 Gtf2e2 general transcription factor IIE subunit 2 gene DOID:0111872 nonphotosensitive trichothiodystrophy 6 ISO RGD:1320859 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 6, nonphotosensitive PMID:25741868|PMID:26996949|PMID:28492532 9056842 Gtf2e2 general transcription factor IIE subunit 2 gene DOID:630 genetic disease ISO RGD:1320859 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9056865 Cd63 CD63 molecule gene DOID:0050534 congenital stationary night blindness ISO RGD:735587 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness PMID:10369264|PMID:10617778|PMID:11053295|PMID:11078852|PMID:11675386|PMID:15007239|PMID:15302662|PMID:15790919|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:25741868|PMID:28492532|PMID:36909829 9056865 Cd63 CD63 molecule gene DOID:11105 fundus albipunctatus ISO RGD:735587 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens PMID:10369264|PMID:10617778|PMID:11053295|PMID:11053296|PMID:11078852|PMID:11675386|PMID:15007239|PMID:15302662|PMID:15790919|PMID:17476461|PMID:18949499|PMID:20829743|PMID:21529959|PMID:22815624|PMID:25741868|PMID:25820994|PMID:28393863|PMID:28492532|PMID:29847639|PMID:32232344|PMID:32531858|PMID:36909829 9056865 Cd63 CD63 molecule gene DOID:3407 carotid artery disease disease_progression ISO RGD:735587 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet PMID:15817881|REF_RGD_ID:2314188 9056865 Cd63 CD63 molecule gene DOID:630 genetic disease ISO RGD:735587 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9056865 Cd63 CD63 molecule gene DOID:8501 fundus dystrophy ISO RGD:735587 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11675386|PMID:20829743|PMID:22815624|PMID:23462753|PMID:28492532|PMID:29847639 9056865 Cd63 CD63 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9056865 Cd63 CD63 molecule gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:735587 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11420682 9056865 Cd63 CD63 molecule gene DOID:9007096 Stroke ISO RGD:735587 D RGD:9068941 20200609 RGD protein:increased expression:platelet PMID:19233449|REF_RGD_ID:2314182 9056865 Cd63 CD63 molecule gene DOID:9743 diabetic neuropathy ISO RGD:735587 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:platelet PMID:10547212|REF_RGD_ID:2314203 9056877 Mpst mercaptopyruvate sulfurtransferase gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:735977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9056877 Mpst mercaptopyruvate sulfurtransferase gene DOID:0090036 myoclonic dystonia 26 ISO RGD:735977 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9056877 Mpst mercaptopyruvate sulfurtransferase gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:735977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9056877 Mpst mercaptopyruvate sulfurtransferase gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:735977 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9056877 Mpst mercaptopyruvate sulfurtransferase gene DOID:1909 melanoma ISO RGD:735977 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25205294 9056877 Mpst mercaptopyruvate sulfurtransferase gene DOID:630 genetic disease ISO RGD:735977 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056877 Mpst mercaptopyruvate sulfurtransferase gene DOID:9352 type 2 diabetes mellitus ISO RGD:620065 D RGD:9068941 20200609 RGD PMID:20127051|REF_RGD_ID:5134362 9056887 Hyi hydroxypyruvate isomerase (putative) gene DOID:0080413 developmental and epileptic encephalopathy 18 ISO RGD:1601737 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 PMID:25741868 9056887 Hyi hydroxypyruvate isomerase (putative) gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1601737 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9056887 Hyi hydroxypyruvate isomerase (putative) gene DOID:630 genetic disease ISO RGD:1601737 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056905 CUNH10orf62 chromosome unknown C10orf62 homolog gene DOID:630 genetic disease ISO RGD:1351899 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056910 Asic4 acid sensing ion channel subunit family member 4 gene DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:28492532 9056910 Asic4 acid sensing ion channel subunit family member 4 gene DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome PMID:28492532 9056910 Asic4 acid sensing ion channel subunit family member 4 gene DOID:1148 polydactyly ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polydactyly 9056910 Asic4 acid sensing ion channel subunit family member 4 gene DOID:4810 cerebrotendinous xanthomatosis ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis PMID:28492532 9056910 Asic4 acid sensing ion channel subunit family member 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604616 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9056945 Atp6ap1l ATPase H+ transporting accessory protein 1 like gene DOID:630 genetic disease ISO RGD:1603596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056945 Atp6ap1l ATPase H+ transporting accessory protein 1 like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9056945 Atp6ap1l ATPase H+ transporting accessory protein 1 like gene DOID:9008939 Breast Neoplasms ISO RGD:1603596 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 9056968 Mtnr1a melatonin receptor 1A gene DOID:0060041 autism spectrum disorder ISO RGD:1352571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20657642 9056968 Mtnr1a melatonin receptor 1A gene DOID:12849 autistic disorder ISO RGD:1352571 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9056968 Mtnr1a melatonin receptor 1A gene DOID:12858 Huntington's disease ISO RGD:1352571 D RGD:9068941 20200609 RGD mRNA:decreased expression:brain PMID:21994366|REF_RGD_ID:9686058 9056968 Mtnr1a melatonin receptor 1A gene DOID:12858 Huntington's disease treatment ISO RGD:734169 D RGD:9068941 20200609 RGD PMID:21994366|REF_RGD_ID:9686058 9056968 Mtnr1a melatonin receptor 1A gene DOID:2229 factor XI deficiency ISO RGD:1352571 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:25741868|PMID:34355501 9056968 Mtnr1a melatonin receptor 1A gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:734169 D RGD:9068941 20200609 RGD protein:decreased expression:spinal chord PMID:23537713|REF_RGD_ID:13524569 9056968 Mtnr1a melatonin receptor 1A gene DOID:5679 retinal disease ISO RGD:1352571 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21915336 9056968 Mtnr1a melatonin receptor 1A gene DOID:630 genetic disease ISO RGD:1352571 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056968 Mtnr1a melatonin receptor 1A gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1352571 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 9056968 Mtnr1a melatonin receptor 1A gene DOID:9352 type 2 diabetes mellitus ISO RGD:620797 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:16441550|REF_RGD_ID:2301037 9056976 Wt1 WT1 transcription factor gene DOID:0050438 Frasier syndrome ISO RGD:69122 D RGD:7240710 20180130 OMIM 9056976 Wt1 WT1 transcription factor gene DOID:0050438 Frasier syndrome ISO RGD:69122 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Frasier syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:10571943|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11738793|PMID:12050205|PMID:12471221|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18559874|PMID:18591546|PMID:18618575|PMID:19048299|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20595692|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24856380|PMID:25110071|PMID:25451826|PMID:25501161|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26248470|PMID:26358501|PMID:26467025|PMID:26725263|PMID:27013732|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29474669|PMID:29668062|PMID:30406062|PMID:30655312|PMID:30963316|PMID:32352694|PMID:32581362|PMID:32604935|PMID:34490048|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189|PMID:9745866|PMID:9817285 9056976 Wt1 WT1 transcription factor gene DOID:0050933 ovarian serous carcinoma ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:19856421|REF_RGD_ID:2315539 9056976 Wt1 WT1 transcription factor gene DOID:0060318 acute promyelocytic leukemia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26285909 9056976 Wt1 WT1 transcription factor gene DOID:0070532 aniridia 1 ISO RGD:69122 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aniridia 1 PMID:10470095|PMID:10505700|PMID:10571943|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11278460|PMID:11322369|PMID:11738793|PMID:12471221|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:16932893|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17630404|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18618575|PMID:19205749|PMID:19221039|PMID:20106868|PMID:20442690|PMID:20595692|PMID:21125408|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24138039|PMID:24728327|PMID:24856380|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26248470|PMID:26467025|PMID:26661695|PMID:26882358|PMID:27013732|PMID:27124303|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28334862|PMID:28492532|PMID:28780565|PMID:29474669|PMID:30406062|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:32604935|PMID:33226606|PMID:34386660|PMID:34490048|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:8810912|PMID:8975729|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189|PMID:9745866 9056976 Wt1 WT1 transcription factor gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:69122 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:18559874|PMID:18591546|PMID:19171881|PMID:19221039|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:25110071|PMID:25741868|PMID:25932436|PMID:26725263|PMID:28492532 9056976 Wt1 WT1 transcription factor gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:10762296|PMID:11182928|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:19484379|PMID:20442690|PMID:21499692|PMID:22099579|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24856380|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29668062|PMID:30406062|PMID:30655312|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189 9056976 Wt1 WT1 transcription factor gene DOID:0080383 nephrotic syndrome type 4 ISO RGD:69122 D RGD:7240710 20180130 OMIM 9056976 Wt1 WT1 transcription factor gene DOID:0080383 nephrotic syndrome type 4 ISO RGD:69122 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Nephrotic syndrome, type 4 PMID:10094551|PMID:10470095|PMID:10505700|PMID:10603123|PMID:10762296|PMID:11182928|PMID:11278460|PMID:11322369|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:16932893|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18559874|PMID:18591546|PMID:19171881|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20562648|PMID:21125408|PMID:21499692|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26248470|PMID:26358501|PMID:26467025|PMID:26725263|PMID:26882358|PMID:27013732|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29474669|PMID:29668062|PMID:30406062|PMID:30655312|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:32604935|PMID:33226606|PMID:34386660|PMID:34490048|PMID:38054408|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8810912|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189|PMID:9745866 9056976 Wt1 WT1 transcription factor gene DOID:0080390 nephrotic syndrome type 1 ISO RGD:69122 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:22099579|PMID:25741868|PMID:27719739 9056976 Wt1 WT1 transcription factor gene DOID:0080638 B-cell acute lymphoblastic leukemia ISO RGD:69122 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia PMID:12640141|PMID:16987884|PMID:25741868|PMID:28492532|PMID:28811308|PMID:31970404|PMID:8621495 9056976 Wt1 WT1 transcription factor gene DOID:0111365 benign familial hematuria ISO RGD:69122 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Microscopic hematuria PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9108089 9056976 Wt1 WT1 transcription factor gene DOID:1059 intellectual disability ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9056976 Wt1 WT1 transcription factor gene DOID:10652 Alzheimer's disease ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:12914969|REF_RGD_ID:1580623 9056976 Wt1 WT1 transcription factor gene DOID:1184 nephrotic syndrome ISO RGD:69122 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:11182928|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17853480|PMID:19484379|PMID:20442690|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24161391|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:29668062|PMID:30655312|PMID:32352694|PMID:32581362|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189 9056976 Wt1 WT1 transcription factor gene DOID:12271 aniridia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9056976 Wt1 WT1 transcription factor gene DOID:1240 leukemia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 9056976 Wt1 WT1 transcription factor gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10571943|PMID:11241055|PMID:11738793|PMID:12471221|PMID:15150775|PMID:15483024|PMID:18559874|PMID:18591546|PMID:18618575|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20595692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:23117548|PMID:23515051|PMID:25110071|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26467025|PMID:26725263|PMID:28492532|PMID:30406062|PMID:33226606|PMID:34386660|PMID:7795587|PMID:8388765|PMID:9108089|PMID:9531607 9056976 Wt1 WT1 transcription factor gene DOID:1324 lung cancer ISO RGD:69122 D RGD:9068941 20220901 RGD mRNA:decreased expression:lung (human) PMID:27821145|REF_RGD_ID:153344578 9056976 Wt1 WT1 transcription factor gene DOID:1380 endometrial cancer disease_progression ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:19443388|REF_RGD_ID:2315542 9056976 Wt1 WT1 transcription factor gene DOID:14447 gonadal dysgenesis ISO RGD:69122 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Gonadal dysgenesis PMID:25741868 9056976 Wt1 WT1 transcription factor gene DOID:14515 WAGR syndrome ISO RGD:69122 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:10762296|PMID:11182928|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:19048299|PMID:19484379|PMID:20442690|PMID:21499692|PMID:21508141|PMID:22099579|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24856380|PMID:25451826|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26248470|PMID:26467025|PMID:27013732|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29474669|PMID:29668062|PMID:30406062|PMID:30655312|PMID:30963316|PMID:32352694|PMID:32581362|PMID:32604935|PMID:34490048|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189|PMID:9745866|PMID:9817285 9056976 Wt1 WT1 transcription factor gene DOID:1612 breast cancer disease_progression ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:19407365|REF_RGD_ID:2315543 9056976 Wt1 WT1 transcription factor gene DOID:1790 malignant mesothelioma ISO RGD:69122 D RGD:7240710 20180130 OMIM 9056976 Wt1 WT1 transcription factor gene DOID:1790 malignant mesothelioma ISO RGD:69122 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mesothelioma, malignant PMID:10470095|PMID:10505700|PMID:10762296|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:20442690|PMID:21499692|PMID:21508141|PMID:22099579|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24856380|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26248470|PMID:26467025|PMID:27013732|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29474669|PMID:30406062|PMID:30963316|PMID:32352694|PMID:32581362|PMID:32604935|PMID:34490048|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189|PMID:9745866 9056976 Wt1 WT1 transcription factor gene DOID:1793 pancreatic cancer ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19196508 9056976 Wt1 WT1 transcription factor gene DOID:1923 disorder of sexual development ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532 9056976 Wt1 WT1 transcription factor gene DOID:2154 nephroblastoma ISO RGD:69122 D RGD:7240710 20180130 OMIM 9056976 Wt1 WT1 transcription factor gene DOID:2154 nephroblastoma ISO RGD:69122 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic PMID:10094551|PMID:10470095|PMID:10505700|PMID:10571943|PMID:10603123|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11278460|PMID:11322369|PMID:11738793|PMID:12050205|PMID:12471221|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1654525|PMID:1655284|PMID:1658787|PMID:16932893|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18559874|PMID:18591546|PMID:18618575|PMID:18688870|PMID:19048299|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20106868|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20595692|PMID:21125408|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:22703879|PMID:22796116|PMID:23117548|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25451826|PMID:25501161|PMID:25720465|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26248470|PMID:26358501|PMID:26467025|PMID:26725263|PMID:26822237|PMID:26882358|PMID:27013732|PMID:27300205|PMID:27719739|PMID:27854218|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29474669|PMID:29668062|PMID:30406062|PMID:30655312|PMID:30721404|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:32604935|PMID:34490048|PMID:35535697|PMID:38054408|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:8810912|PMID:8975729|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189|PMID:9745866|PMID:9817285 9056976 Wt1 WT1 transcription factor gene DOID:2394 ovarian cancer ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:25741868|PMID:28492532 9056976 Wt1 WT1 transcription factor gene DOID:2921 glomerulonephritis ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20962747 9056976 Wt1 WT1 transcription factor gene DOID:3068 glioblastoma ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20820871 9056976 Wt1 WT1 transcription factor gene DOID:3192 neurilemmoma ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25474318 9056976 Wt1 WT1 transcription factor gene DOID:3347 osteosarcoma ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28107196 9056976 Wt1 WT1 transcription factor gene DOID:3764 Denys-Drash syndrome ISO RGD:69122 D RGD:7240710 20180130 OMIM 9056976 Wt1 WT1 transcription factor gene DOID:3764 Denys-Drash syndrome ISO RGD:69122 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor PMID:10094551|PMID:10470095|PMID:10505700|PMID:10571943|PMID:10603123|PMID:10762296|PMID:11182928|PMID:11241055|PMID:11278460|PMID:11322369|PMID:11738793|PMID:12024052|PMID:12050205|PMID:12471221|PMID:12640141|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:1350671|PMID:15150775|PMID:15266301|PMID:15349765|PMID:15483024|PMID:15509792|PMID:15957141|PMID:16199547|PMID:1655284|PMID:1658787|PMID:16717397|PMID:16932893|PMID:16987884|PMID:17496156|PMID:17541636|PMID:17551084|PMID:17576681|PMID:17630404|PMID:17694336|PMID:17853480|PMID:18203154|PMID:18559874|PMID:18591546|PMID:18618575|PMID:19048299|PMID:19171881|PMID:19205749|PMID:19221039|PMID:19484379|PMID:19494353|PMID:19536888|PMID:20106868|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:20562648|PMID:20595692|PMID:21125408|PMID:21384108|PMID:21499692|PMID:21504297|PMID:21508141|PMID:21851196|PMID:22099579|PMID:22172722|PMID:22465478|PMID:22703879|PMID:22876585|PMID:23117548|PMID:23295293|PMID:23302619|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24138039|PMID:24161391|PMID:24379226|PMID:24402088|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25145932|PMID:25349199|PMID:25383892|PMID:25451826|PMID:25501161|PMID:25688735|PMID:25720465|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26248470|PMID:26358501|PMID:26467025|PMID:26661695|PMID:26725263|PMID:26882358|PMID:27013732|PMID:27124303|PMID:27241786|PMID:27300205|PMID:27719739|PMID:27854218|PMID:27899157|PMID:28204945|PMID:28334862|PMID:28492532|PMID:28658201|PMID:28780565|PMID:28811308|PMID:29474669|PMID:29668062|PMID:30221469|PMID:30406062|PMID:30655312|PMID:30668521|PMID:30721404|PMID:30963316|PMID:31937884|PMID:31970404|PMID:32352694|PMID:32493750|PMID:32581362|PMID:32604935|PMID:33226606|PMID:34031707|PMID:34386660|PMID:34392242|PMID:34490048|PMID:35535697|PMID:38054408|PMID:5665984|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8388765|PMID:8411073|PMID:8621495|PMID:8810912|PMID:8956030|PMID:8975729|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9475094|PMID:9499425|PMID:9529364|PMID:9531607|PMID:9536098|PMID:9607189|PMID:9745866|PMID:9817285 9056976 Wt1 WT1 transcription factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:11493 D RGD:9068941 20220825 MouseDO OMIM:142340 | OMIM:222400 | OMIM:610187 9056976 Wt1 WT1 transcription factor gene DOID:3827 congenital diaphragmatic hernia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21072664 9056976 Wt1 WT1 transcription factor gene DOID:5176 renal Wilms' tumor ISO RGD:69122 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 9056976 Wt1 WT1 transcription factor gene DOID:5426 primary ovarian insufficiency ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9056976 Wt1 WT1 transcription factor gene DOID:557 kidney disease ISO RGD:69122 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:10470095|PMID:10505700|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:17496156|PMID:17541636|PMID:17853480|PMID:21508141|PMID:23497137|PMID:23715653|PMID:23935527|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26248470|PMID:26467025|PMID:27013732|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29474669|PMID:30963316|PMID:32352694|PMID:32581362|PMID:32604935|PMID:34490048|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9529364|PMID:9607189|PMID:9745866 9056976 Wt1 WT1 transcription factor gene DOID:576 proteinuria ISO RGD:69122 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Proteinuria PMID:25741868|PMID:28492532 9056976 Wt1 WT1 transcription factor gene DOID:630 genetic disease ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15150775|PMID:19048299|PMID:25741868|PMID:28492532|PMID:9108089 9056976 Wt1 WT1 transcription factor gene DOID:784 chronic kidney disease ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 9056976 Wt1 WT1 transcription factor gene DOID:784 chronic kidney disease treatment ISO RGD:69122 D RGD:9068941 20221103 RGD human cells in rat model PMID:33298161|REF_RGD_ID:155631310 9056976 Wt1 WT1 transcription factor gene DOID:8552 chronic myeloid leukemia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17157168 9056976 Wt1 WT1 transcription factor gene DOID:9001834 Peritoneal Neoplasms ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22784439 9056976 Wt1 WT1 transcription factor gene DOID:9002928 Colonic Neoplasms ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 9056976 Wt1 WT1 transcription factor gene DOID:9003125 Male Genital Neoplasms ISO RGD:69122 D RGD:9068941 20200609 RGD PMID:19543245|REF_RGD_ID:2315541 9056976 Wt1 WT1 transcription factor gene DOID:9003566 Mesothelioma ISO RGD:69122 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mesothelioma PMID:4332312|PMID:8298644 9056976 Wt1 WT1 transcription factor gene DOID:9003775 Chromosome 11p Deletion Syndrome ISO RGD:69122 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: 11p deletion syndrome PMID:10094551|PMID:10470095|PMID:10505700|PMID:10762296|PMID:11182928|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:19048299|PMID:19484379|PMID:20442690|PMID:21499692|PMID:21508141|PMID:22099579|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24856380|PMID:25451826|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26248470|PMID:26467025|PMID:27013732|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29474669|PMID:29668062|PMID:30406062|PMID:30655312|PMID:30963316|PMID:32352694|PMID:32581362|PMID:32604935|PMID:34490048|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189|PMID:9745866|PMID:9817285 9056976 Wt1 WT1 transcription factor gene DOID:9005172 Lung Neoplasms ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 9056976 Wt1 WT1 transcription factor gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:11493 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 9056976 Wt1 WT1 transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69122 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532 9056976 Wt1 WT1 transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69122 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22703879|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532 9056976 Wt1 WT1 transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69122 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18559874|PMID:18591546|PMID:19171881|PMID:19221039|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25110071|PMID:25741868|PMID:25932436|PMID:26467025|PMID:26725263|PMID:28492532 9056976 Wt1 WT1 transcription factor gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69122 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18559874|PMID:18591546|PMID:19171881|PMID:19221039|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:22703879|PMID:24033266|PMID:24728327|PMID:25110071|PMID:25741868|PMID:25932436|PMID:26467025|PMID:26725263|PMID:27854218|PMID:28492532|PMID:38054408|PMID:9108089 9056976 Wt1 WT1 transcription factor gene DOID:9007195 Meacham Winn Culler Syndrome ISO RGD:69122 D RGD:7240710 20180130 OMIM 9056976 Wt1 WT1 transcription factor gene DOID:9007195 Meacham Winn Culler Syndrome ISO RGD:69122 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome PMID:10470095|PMID:10505700|PMID:10603123|PMID:10762296|PMID:11182928|PMID:12970737|PMID:1302008|PMID:1317572|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15266301|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:18559874|PMID:18591546|PMID:19171881|PMID:19221039|PMID:19494353|PMID:19536888|PMID:20368469|PMID:20413658|PMID:20435628|PMID:20442690|PMID:21499692|PMID:21508141|PMID:22099579|PMID:22172722|PMID:23295293|PMID:23325811|PMID:23497137|PMID:23515051|PMID:23562652|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24728327|PMID:24856380|PMID:25110071|PMID:25501161|PMID:25741868|PMID:25818337|PMID:25932436|PMID:26069768|PMID:26248470|PMID:26358501|PMID:26467025|PMID:26725263|PMID:27013732|PMID:27300205|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29474669|PMID:30406062|PMID:30963316|PMID:31937884|PMID:32352694|PMID:32581362|PMID:32604935|PMID:34490048|PMID:38054408|PMID:6307071|PMID:7795587|PMID:8295405|PMID:8810912|PMID:9090524|PMID:9108089|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189|PMID:9745866|PMID:9916932 9056976 Wt1 WT1 transcription factor gene DOID:9008897 Diffuse Mesangial Sclerosis ISO RGD:69122 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis PMID:10094551|PMID:10470095|PMID:10505700|PMID:10762296|PMID:11182928|PMID:12050205|PMID:12970737|PMID:1302008|PMID:1327525|PMID:1338906|PMID:15150775|PMID:15483024|PMID:15509792|PMID:1655284|PMID:1658787|PMID:17496156|PMID:17541636|PMID:17576681|PMID:17694336|PMID:17853480|PMID:19484379|PMID:20442690|PMID:21499692|PMID:21508141|PMID:22099579|PMID:23295293|PMID:23497137|PMID:23515051|PMID:23715653|PMID:23935527|PMID:24033266|PMID:24161391|PMID:24856380|PMID:25501161|PMID:25741868|PMID:25818337|PMID:26069768|PMID:26248470|PMID:26467025|PMID:27013732|PMID:27719739|PMID:27899157|PMID:28204945|PMID:28492532|PMID:28780565|PMID:29474669|PMID:29668062|PMID:30406062|PMID:30655312|PMID:30963316|PMID:32352694|PMID:32581362|PMID:32604935|PMID:34490048|PMID:6307071|PMID:7795587|PMID:8295405|PMID:9090524|PMID:9398852|PMID:9499425|PMID:9529364|PMID:9536098|PMID:9607189|PMID:9745866 9056976 Wt1 WT1 transcription factor gene DOID:9008939 Breast Neoplasms ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14961577 9056976 Wt1 WT1 transcription factor gene DOID:9009073 Diaphragmatic Hernia ISO RGD:69122 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17436238 9056976 Wt1 WT1 transcription factor gene DOID:9119 acute myeloid leukemia ISO RGD:69122 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia PMID:24374862|PMID:24422723|PMID:24521058|PMID:24659740|PMID:24667279|PMID:24671364|PMID:25145932|PMID:25741868 9056989 Fbxl22 F-box and leucine rich repeat protein 22 gene DOID:0110935 nemaline myopathy 6 ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 6 PMID:21681106|PMID:24525055 9056989 Fbxl22 F-box and leucine rich repeat protein 22 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 9056989 Fbxl22 F-box and leucine rich repeat protein 22 gene DOID:2717 Bloom syndrome ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9056989 Fbxl22 F-box and leucine rich repeat protein 22 gene DOID:630 genetic disease ISO RGD:1350469 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9056989 Fbxl22 F-box and leucine rich repeat protein 22 gene DOID:9256 colorectal cancer ISO RGD:1350469 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9057048 Gpr183 G protein-coupled receptor 183 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1346200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 9057048 Gpr183 G protein-coupled receptor 183 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1346200 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19177455|PMID:19955556|PMID:28492532|PMID:29770992 9057048 Gpr183 G protein-coupled receptor 183 gene DOID:2986 IgA glomerulonephritis ISO RGD:1346200 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 9057048 Gpr183 G protein-coupled receptor 183 gene DOID:4621 holoprosencephaly ISO RGD:1346200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lobar holoprosencephaly 9057048 Gpr183 G protein-coupled receptor 183 gene DOID:630 genetic disease ISO RGD:1346200 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057048 Gpr183 G protein-coupled receptor 183 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1346200 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9057054 Osbpl8 oxysterol binding protein like 8 gene DOID:0110132 Bardet-Biedl syndrome 10 ISO RGD:1348483 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 PMID:20472660|PMID:22773737|PMID:25741868|PMID:25982971|PMID:27486776|PMID:28492532 9057054 Osbpl8 oxysterol binding protein like 8 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1348483 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:20472660|PMID:22773737|PMID:25741868|PMID:25982971|PMID:27486776|PMID:28492532 9057054 Osbpl8 oxysterol binding protein like 8 gene DOID:630 genetic disease ISO RGD:1348483 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057054 Osbpl8 oxysterol binding protein like 8 gene DOID:9004657 Weight Gain ISO RGD:1348483 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 9057089 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758 9057089 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 ISO RGD:1316813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:28492532 9057089 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0070038 autosomal dominant intellectual developmental disorder 8 ISO RGD:1316813 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant PMID:28492532 9057089 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9057089 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1316813 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9057089 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1316813 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532 9057089 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0081097 Rafiq syndrome ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:24566669|PMID:28492532|PMID:30982612 9057089 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1316813 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532 9057089 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532|PMID:29907982 9057089 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:3652 Leigh disease ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9057089 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:630 genetic disease ISO RGD:1316813 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057089 Qsox2 quiescin sulfhydryl oxidase 2 gene DOID:9005781 Adams-Oliver Syndrome 5 ISO RGD:1316813 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532|PMID:29907982 9057106 Fbxo43 F-box protein 43 gene DOID:0111590 Cohen syndrome ISO RGD:1321003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 9057106 Fbxo43 F-box protein 43 gene DOID:0112353 spermatogenic failure 64 ISO RGD:1321003 D RGD:7240710 20220112 OMIM 9057106 Fbxo43 F-box protein 43 gene DOID:0112353 spermatogenic failure 64 ISO RGD:1321003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 64 PMID:30878252|PMID:34052850|PMID:34595750 9057106 Fbxo43 F-box protein 43 gene DOID:630 genetic disease ISO RGD:1321003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057106 Fbxo43 F-box protein 43 gene DOID:9003492 Oocyte/Zygote/Embryo Maturation Arrest 12 ISO RGD:1321003 D RGD:7240710 20220112 OMIM 9057106 Fbxo43 F-box protein 43 gene DOID:9003492 Oocyte/Zygote/Embryo Maturation Arrest 12 ISO RGD:1321003 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oocyte maturation defect 12 PMID:34052850|PMID:34595750 9057121 Adrb3 adrenoceptor beta 3 gene DOID:0060180 colitis ISO RGD:2061 D RGD:9068941 20200609 RGD mRNA:decreased expression:distal colon, mucosa (rat) PMID:18492028|REF_RGD_ID:5684890 9057121 Adrb3 adrenoceptor beta 3 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R (rs4994) (human) PMID:15318095|REF_RGD_ID:5684892 9057121 Adrb3 adrenoceptor beta 3 gene DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia ISO RGD:737467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562 9057121 Adrb3 adrenoceptor beta 3 gene DOID:0110429 dilated cardiomyopathy 1H susceptibility ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation, haplotype:cds:p.W64R rs4994 (human) PMID:20123316|REF_RGD_ID:5684357 9057121 Adrb3 adrenoceptor beta 3 gene DOID:0110806 hereditary spastic paraplegia 54 ISO RGD:737467 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 PMID:28492532 9057121 Adrb3 adrenoceptor beta 3 gene DOID:10652 Alzheimer's disease ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R (human) PMID:17440948|REF_RGD_ID:2311642 9057121 Adrb3 adrenoceptor beta 3 gene DOID:10763 hypertension ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.W64R (human) PMID:10981554|REF_RGD_ID:2313166 9057121 Adrb3 adrenoceptor beta 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:2061 D RGD:9068941 20200609 RGD mRNA:increased expression:gastrointestinal system mesentery, adipose tissue PMID:19158405|REF_RGD_ID:2313167 9057121 Adrb3 adrenoceptor beta 3 gene DOID:1168 familial hyperlipidemia ISO RGD:737467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16027735 9057121 Adrb3 adrenoceptor beta 3 gene DOID:13025 retinopathy of prematurity ISO RGD:10110 D RGD:9068941 20200609 RGD protein:increased expression:retina (mouse) PMID:20739470|REF_RGD_ID:5684355 9057121 Adrb3 adrenoceptor beta 3 gene DOID:13189 gout ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:21285172|REF_RGD_ID:5684422 9057121 Adrb3 adrenoceptor beta 3 gene DOID:1380 endometrial cancer susceptibility ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Obesity;DNA:polymorphism: :p.W64R (human) PMID:15743038|REF_RGD_ID:2313164 9057121 Adrb3 adrenoceptor beta 3 gene DOID:1485 cystic fibrosis ISO RGD:737467 D RGD:9068941 20200609 RGD protein:increased expression:bronchus PMID:20203292|REF_RGD_ID:5129107 9057121 Adrb3 adrenoceptor beta 3 gene DOID:2018 hyperinsulinism ISO RGD:10110 D RGD:9068941 20200609 RGD associated with Obesity;mRNA:decreased expression:epidydimis, white fat PMID:11014217|REF_RGD_ID:2313165 9057121 Adrb3 adrenoceptor beta 3 gene DOID:3393 coronary artery disease ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R (human) PMID:9126344|REF_RGD_ID:1559325 9057121 Adrb3 adrenoceptor beta 3 gene DOID:3393 coronary artery disease no_association ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:11229427|REF_RGD_ID:5684412 9057121 Adrb3 adrenoceptor beta 3 gene DOID:6000 congestive heart failure ISO RGD:2061 D RGD:9068941 20200609 RGD protein:increased expression:heart ventricle (rat) PMID:21549119|REF_RGD_ID:5684917 9057121 Adrb3 adrenoceptor beta 3 gene DOID:6000 congestive heart failure ISO RGD:737467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15009959|PMID:17440824 9057121 Adrb3 adrenoceptor beta 3 gene DOID:6000 congestive heart failure ISO RGD:737467 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle, myocardium (human) PMID:11273992|REF_RGD_ID:5684398 9057121 Adrb3 adrenoceptor beta 3 gene DOID:607 paraplegia ISO RGD:737467 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 9057121 Adrb3 adrenoceptor beta 3 gene DOID:630 genetic disease ISO RGD:737467 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9057121 Adrb3 adrenoceptor beta 3 gene DOID:7148 rheumatoid arthritis ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:12739037|REF_RGD_ID:5684893 9057121 Adrb3 adrenoceptor beta 3 gene DOID:8947 diabetic retinopathy ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:9313761|REF_RGD_ID:5684400 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9000099 Experimental Colitis no_association ISO RGD:2061 D RGD:9068941 20200609 RGD mRNA:unaltered expression:colon (rat) PMID:11803250|REF_RGD_ID:5684894 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9000528 Coronary Disease ISO RGD:737467 D RGD:9068941 20200609 RGD PMID:10421225|REF_RGD_ID:1559326 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9000528 Coronary Disease susceptibility ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994(human) PMID:20536507|REF_RGD_ID:5684776 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:2061 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:19785950|REF_RGD_ID:5129118 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:9867224|REF_RGD_ID:5684403 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9004484 Sepsis ISO RGD:737467 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle (human) PMID:17999941|REF_RGD_ID:2292119 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:737467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17345787 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2061 D RGD:9068941 20200609 RGD protein:increased expression:left ventricle muscular part PMID:21054861|REF_RGD_ID:5129115 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:737467 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17622774 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9007692 Insulin Resistance ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:10582543|REF_RGD_ID:5684421 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9007692 Insulin Resistance ISO RGD:737467 D RGD:9068941 20200609 RGD associated with Obesity;DNA:polymorphism: :p.W64R (human) PMID:17299491|REF_RGD_ID:2313158 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9007692 Insulin Resistance no_association ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:10421225|REF_RGD_ID:1559326 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9008856 HIV-Associated Lipodystrophy Syndrome ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:10930169|REF_RGD_ID:5684895 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9352 type 2 diabetes mellitus no_association ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:19659999|REF_RGD_ID:2313148 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.I62M (human) PMID:16444766|REF_RGD_ID:2313163 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.W64R (human) PMID:17727676|REF_RGD_ID:2313149 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9970 obesity ISO RGD:737467 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity PMID:10323390|PMID:10323402|PMID:10999801|PMID:11095426|PMID:15472194|PMID:25741868|PMID:7609750|PMID:7609752|PMID:8903328|PMID:8954053|PMID:9054940|PMID:9100608|PMID:9112025|PMID:9449691|PMID:9709965|PMID:9814483|PMID:9892244 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9970 obesity no_association ISO RGD:737467 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.W64R rs4994 (human) PMID:11882399|REF_RGD_ID:5684409 9057121 Adrb3 adrenoceptor beta 3 gene DOID:9970 obesity susceptibility ISO RGD:737467 D RGD:7240710 20230505 OMIM 9057127 B4galt4 beta-1,4-galactosyltransferase 4 gene DOID:630 genetic disease ISO RGD:1317330 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057127 B4galt4 beta-1,4-galactosyltransferase 4 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317330 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9057145 B3glct beta 3-glucosyltransferase gene DOID:0080201 Peters plus syndrome ISO RGD:1604745 D RGD:7240710 20180130 OMIM 9057145 B3glct beta 3-glucosyltransferase gene DOID:0080201 Peters plus syndrome ISO RGD:1604745 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peters plus syndrome PMID:16199547|PMID:16909395|PMID:17576681|PMID:18199743|PMID:18798333|PMID:19796186|PMID:20301637|PMID:23161355|PMID:23213277|PMID:23889335|PMID:25741868|PMID:26684045|PMID:28492532|PMID:32204707|PMID:9536098 9057145 B3glct beta 3-glucosyltransferase gene DOID:630 genetic disease ISO RGD:1604745 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18798333|PMID:19796186|PMID:25741868|PMID:28492532 9057145 B3glct beta 3-glucosyltransferase gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604745 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9057163 Actn2 actinin alpha 2 gene DOID:0050431 arrhythmogenic right ventricular cardiomyopathy ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:25224718|PMID:25741868|PMID:28492532|PMID:31956495 9057163 Actn2 actinin alpha 2 gene DOID:0050700 cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:14567970|PMID:17097056|PMID:17576681|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27896284|PMID:28301460|PMID:28492532|PMID:28771489|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:29773157|PMID:30086531|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31506931|PMID:31983221|PMID:32527005|PMID:32880476|PMID:35026164|PMID:9536098 9057163 Actn2 actinin alpha 2 gene DOID:0060036 intrinsic cardiomyopathy ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intrinsic cardiomyopathy PMID:20474083|PMID:25741868|PMID:31333075|PMID:32973354 9057163 Actn2 actinin alpha 2 gene DOID:0060674 catecholaminergic polymorphic ventricular tachycardia ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:28492532 9057163 Actn2 actinin alpha 2 gene DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 ISO RGD:1317671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 9057163 Actn2 actinin alpha 2 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1317671 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34471957|PMID:34935411|PMID:35026164|PMID:35656879|PMID:36005429|PMID:37477868|PMID:9536098 9057163 Actn2 actinin alpha 2 gene DOID:0081342 congenital myopathy 8 ISO RGD:1317671 D RGD:7240710 20200115 OMIM 9057163 Actn2 actinin alpha 2 gene DOID:0081342 congenital myopathy 8 ISO RGD:1317671 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 8 | ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE | ClinVar Annotator: match by term: Myopathy, congenital, with structured cores and z-line abnormalities PMID:14567970|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27532257|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29247119|PMID:29386531|PMID:30701273|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32527005|PMID:32746448|PMID:34935411|PMID:35026164|PMID:37477868|PMID:9536098 9057163 Actn2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:17097056|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27896284|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28790153|PMID:28798025|PMID:29247119|PMID:30615648|PMID:30775854|PMID:31110529|PMID:31333075|PMID:31568572 9057163 Actn2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27707468|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:9536098 9057163 Actn2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32931854|PMID:35656879|PMID:9536098 9057163 Actn2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27854218|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32931854|PMID:35656879|PMID:9536098 9057163 Actn2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879|PMID:9536098 9057163 Actn2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879|PMID:36005429|PMID:9536098 9057163 Actn2 actinin alpha 2 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1317671 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Asymmetric septal hypertrophy | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34471957|PMID:34935411|PMID:35026164|PMID:35656879|PMID:36005429|PMID:37477868|PMID:9536098 9057163 Actn2 actinin alpha 2 gene DOID:0110425 dilated cardiomyopathy 1A ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868 9057163 Actn2 actinin alpha 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317671 D RGD:7240710 20180130 OMIM 9057163 Actn2 actinin alpha 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24274751|PMID:24503780|PMID:25173926|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27114410|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29875424|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31680489|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34540771|PMID:34802252|PMID:35656879|PMID:9536098 9057163 Actn2 actinin alpha 2 gene DOID:0110428 dilated cardiomyopathy 1AA ISO RGD:1317671 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24274751|PMID:24503780|PMID:25173926|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25640679|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27114410|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29760345|PMID:29773157|PMID:29875424|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31680489|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34471957|PMID:34540771|PMID:34598319|PMID:34802252|PMID:34935411|PMID:35026164|PMID:35656879|PMID:36005429|PMID:36078153|PMID:37271035|PMID:37477868|PMID:9536098 9057163 Actn2 actinin alpha 2 gene DOID:0110443 dilated cardiomyopathy 1B ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532 9057163 Actn2 actinin alpha 2 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1317671 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17097056|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25224718|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26899768|PMID:27287556|PMID:27532257|PMID:28492532|PMID:30959811|PMID:31513939|PMID:32880476|PMID:32931854|PMID:34598319|PMID:35656879 9057163 Actn2 actinin alpha 2 gene DOID:12930 dilated cardiomyopathy ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:14567970|PMID:17097056|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25741868|PMID:26899768|PMID:27287556|PMID:27896284|PMID:28492532|PMID:32931854|PMID:35656879 9057163 Actn2 actinin alpha 2 gene DOID:1540 parathyroid carcinoma ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9057163 Actn2 actinin alpha 2 gene DOID:2843 long QT syndrome ISO RGD:1317671 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27532257|PMID:28492532|PMID:29247119|PMID:31983221 9057163 Actn2 actinin alpha 2 gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 9057163 Actn2 actinin alpha 2 gene DOID:6000 congestive heart failure ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868|PMID:28492532 9057163 Actn2 actinin alpha 2 gene DOID:630 genetic disease ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17097056|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26084686|PMID:28492532|PMID:32880476 9057163 Actn2 actinin alpha 2 gene DOID:6419 tetralogy of Fallot ISO RGD:1317671 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Tetralogy of Fallot PMID:20022194|PMID:24033266|PMID:24503780|PMID:25741868|PMID:28492532|PMID:28771489|PMID:32527005 9057163 Actn2 actinin alpha 2 gene DOID:893 Wilson disease ISO RGD:1317671 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:24082139|PMID:25326637|PMID:25741868|PMID:28492532 9057163 Actn2 actinin alpha 2 gene DOID:9000184 Ventricular Fibrillation ISO RGD:1317671 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:28492532 9057163 Actn2 actinin alpha 2 gene DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction ISO RGD:1317671 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:29447731|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:33500567|PMID:34540771 9057163 Actn2 actinin alpha 2 gene DOID:9000727 Syncope ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syncope PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:28492532|PMID:30959811 9057163 Actn2 actinin alpha 2 gene DOID:9004033 Distal Myopathy 6 ISO RGD:1317671 D RGD:7240710 20191127 OMIM 9057163 Actn2 actinin alpha 2 gene DOID:9004033 Distal Myopathy 6 ISO RGD:1317671 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:14567970|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28798025|PMID:29247119|PMID:29386531|PMID:30847666|PMID:30900782|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32527005|PMID:32746448|PMID:34935411|PMID:35026164|PMID:37477868|PMID:9536098 9057163 Actn2 actinin alpha 2 gene DOID:9007288 Left Ventricular Noncompaction 1 ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 9057163 Actn2 actinin alpha 2 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1317671 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9057200 Heatr1 HEAT repeat containing 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1605668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9057200 Heatr1 HEAT repeat containing 1 gene DOID:3068 glioblastoma ISO RGD:1605668 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain PMID:25126583|REF_RGD_ID:10761721 9057200 Heatr1 HEAT repeat containing 1 gene DOID:3587 pancreatic ductal carcinoma treatment ISO RGD:1605668 D RGD:9068941 20200609 RGD PMID:26676747|REF_RGD_ID:10761108 9057200 Heatr1 HEAT repeat containing 1 gene DOID:630 genetic disease ISO RGD:1605668 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057200 Heatr1 HEAT repeat containing 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605668 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9057252 Sall4 spalt like transcription factor 4 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30067223 9057252 Sall4 spalt like transcription factor 4 gene DOID:0060468 Holt-Oram syndrome ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human) PMID:12843316|REF_RGD_ID:11556209 9057252 Sall4 spalt like transcription factor 4 gene DOID:0060747 Duane-radial ray syndrome ISO RGD:1351271 D RGD:7240710 20180425 OMIM 9057252 Sall4 spalt like transcription factor 4 gene DOID:0060747 Duane-radial ray syndrome ISO RGD:1351271 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome | ClinVar Annotator: match by term: SALL4-related condition | ClinVar Annotator: match by term: SALL4-related disorder PMID:11826030|PMID:12393809|PMID:12395297|PMID:12789647|PMID:12843316|PMID:12868480|PMID:15342710|PMID:16086360|PMID:16199547|PMID:16402211|PMID:16411190|PMID:17576681|PMID:22382802|PMID:25741868|PMID:26571382|PMID:26791099|PMID:27661448|PMID:28166811|PMID:28492532|PMID:31502745|PMID:8025439|PMID:8287186|PMID:843249|PMID:9536098 9057252 Sall4 spalt like transcription factor 4 gene DOID:0080074 neural tube defect ISO RGD:1619916 D RGD:9068941 20200609 RGD PMID:18818376|REF_RGD_ID:11556229 9057252 Sall4 spalt like transcription factor 4 gene DOID:0111381 IVIC syndrome ISO RGD:1351271 D RGD:7240710 20180130 OMIM 9057252 Sall4 spalt like transcription factor 4 gene DOID:0111381 IVIC syndrome ISO RGD:1351271 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders PMID:17256792|PMID:25741868|PMID:28492532|PMID:7395922 9057252 Sall4 spalt like transcription factor 4 gene DOID:10754 otitis media ISO RGD:1619916 D RGD:9068941 20220825 MouseDO OMIM:166760 9057252 Sall4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20240229 CTD CTD Direct Evidence: marker/mechanism PMID:16402211|PMID:30067223 9057252 Sall4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20240229 RGD DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) PMID:12395297|REF_RGD_ID:11556232 9057252 Sall4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20240229 RGD DNA:duplication:cds:c.410dupG (human) PMID:26791099|REF_RGD_ID:11532205 9057252 Sall4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20240229 RGD DNA:frameshift mutation:cds:p.M640IfsX25 (human) PMID:23687435|REF_RGD_ID:11556211 9057252 Sall4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20240229 RGD DNA:nonsense mutation:cds:p.R905X (human) PMID:16411190|REF_RGD_ID:11556231 9057252 Sall4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1351271 D RGD:9068941 20240229 RGD DNA:snps, deletions, insertion:multiple (human) PMID:12393809|REF_RGD_ID:11556210 9057252 Sall4 spalt like transcription factor 4 gene DOID:12557 Duane retraction syndrome ISO RGD:1619916 D RGD:9068941 20240229 RGD PMID:17216607|REF_RGD_ID:11556215 9057252 Sall4 spalt like transcription factor 4 gene DOID:1657 ventricular septal defect ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30067223 9057252 Sall4 spalt like transcription factor 4 gene DOID:1657 ventricular septal defect ISO RGD:1351271 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.R196W, p.S797C (human) PMID:19619907|REF_RGD_ID:11556206 9057252 Sall4 spalt like transcription factor 4 gene DOID:1911 endodermal sinus tumor ISO RGD:1351271 D RGD:9068941 20200609 RGD protein:increased expression:testis, nucleus (human) PMID:23347651|REF_RGD_ID:11557983 9057252 Sall4 spalt like transcription factor 4 gene DOID:2156 ovarian germ cell cancer ISO RGD:1351271 D RGD:9068941 20200609 RGD protein:increased expression:female gonad (human) PMID:19295406|REF_RGD_ID:11556233 9057252 Sall4 spalt like transcription factor 4 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30431698 9057252 Sall4 spalt like transcription factor 4 gene DOID:630 genetic disease ISO RGD:1351271 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9057252 Sall4 spalt like transcription factor 4 gene DOID:687 hepatoblastoma ISO RGD:1351271 D RGD:9068941 20200609 RGD Embryonal Hepatoblastoma;protein:increased expression:liver (human) PMID:23822878|REF_RGD_ID:11556217 9057252 Sall4 spalt like transcription factor 4 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1351271 D RGD:9068941 20200609 RGD protein:increased expression:testis (human) PMID:19390421|REF_RGD_ID:11556205 9057252 Sall4 spalt like transcription factor 4 gene DOID:9004994 Embryo Loss ISO RGD:1619916 D RGD:9068941 20221103 RGD PMID:16790473|REF_RGD_ID:155631313 9057252 Sall4 spalt like transcription factor 4 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30067223 9057252 Sall4 spalt like transcription factor 4 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351271 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16402211 9057269 Sult4a1 sulfotransferase family 4A member 1 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:736677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9057269 Sult4a1 sulfotransferase family 4A member 1 gene DOID:1059 intellectual disability ISO RGD:736677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9057269 Sult4a1 sulfotransferase family 4A member 1 gene DOID:630 genetic disease ISO RGD:736677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0060536 mitochondrial complex I deficiency ISO RGD:1319736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0070255 congenital disorder of glycosylation type IIc ISO RGD:1319736 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rambam Hasharon syndrome PMID:16455955|PMID:24403049|PMID:28492532 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0080855 Parkinsonism ISO RGD:1309406 D RGD:9068941 20200609 RGD PMID:20403401|REF_RGD_ID:13824972 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0112074 nuclear type mitochondrial complex I deficiency 1 ISO RGD:1319736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1319736 D RGD:7240710 20190315 OMIM 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:0112081 nuclear type mitochondrial complex I deficiency 8 ISO RGD:1319736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 PMID:14729820|PMID:17576681|PMID:22499348|PMID:25741868|PMID:28492532|PMID:30140060|PMID:33097395|PMID:9536098 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:1059 intellectual disability ISO RGD:1319736 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:10652 Alzheimer's disease onset ISO RGD:1319736 D RGD:9068941 20200609 RGD PMID:28242297|REF_RGD_ID:13824970 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:3652 Leigh disease ISO RGD:1319736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:5723 optic atrophy ISO RGD:1319736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14729820 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:630 genetic disease ISO RGD:1319736 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9000680 Subacute Necrotizing Encephalopathy of Leigh, Infantile ISO RGD:1319736 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:33097395|PMID:9536098 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:1309406 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:increased expression:kidney,glomerulus PMID:22903132|REF_RGD_ID:8552684 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:1309406 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:22591908|REF_RGD_ID:13792578 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9003936 Cardiomegaly ISO RGD:1309406 D RGD:9068941 20200609 RGD PMID:24388463|REF_RGD_ID:7800726 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309406 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:22387129|REF_RGD_ID:13824971 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1309406 D RGD:9068941 20200609 RGD protein:decreased expression:dorsal root ganglia (rat) PMID:20876714|REF_RGD_ID:6484699 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1319736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 9057280 Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 gene DOID:9008939 Breast Neoplasms ISO RGD:1319736 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 9057291 Stab1 stabilin 1 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1321166 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 9057291 Stab1 stabilin 1 gene DOID:630 genetic disease ISO RGD:1321166 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:37490907 9057291 Stab1 stabilin 1 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1321166 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9057371 Card14 caspase recruitment domain family member 14 gene DOID:0080475 psoriasis 2 ISO RGD:1350189 D RGD:7240710 20190227 OMIM 9057371 Card14 caspase recruitment domain family member 14 gene DOID:0080475 psoriasis 2 ISO RGD:1350189 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: PSORIASIS 2 | ClinVar Annotator: match by term: Psoriasis 2 PMID:15689454|PMID:17576681|PMID:18256691|PMID:22521418|PMID:22521419|PMID:23648549|PMID:23905699|PMID:24033266|PMID:25741868|PMID:26203641|PMID:26358359|PMID:27706581|PMID:28492532|PMID:29477734|PMID:30697821|PMID:31971603|PMID:36174714|PMID:36221432|PMID:8178173|PMID:9536098 9057371 Card14 caspase recruitment domain family member 14 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 9057371 Card14 caspase recruitment domain family member 14 gene DOID:0111442 optic atrophy 9 ISO RGD:1350189 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Optic atrophy 9 PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 9057371 Card14 caspase recruitment domain family member 14 gene DOID:12798 mucopolysaccharidosis ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidoses PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 9057371 Card14 caspase recruitment domain family member 14 gene DOID:12801 mucopolysaccharidosis III ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 9057371 Card14 caspase recruitment domain family member 14 gene DOID:1289 neurodegenerative disease ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: neurodegenerative disorder PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 9057371 Card14 caspase recruitment domain family member 14 gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1350189 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome PMID:17576681|PMID:22521419|PMID:23905699|PMID:24033266|PMID:24999592|PMID:25734815|PMID:25741868|PMID:25989471|PMID:26203641|PMID:26358359|PMID:27706581|PMID:28492532|PMID:28887889|PMID:30387497|PMID:30697821|PMID:31971603|PMID:36174714|PMID:36221432|PMID:9536098 9057371 Card14 caspase recruitment domain family member 14 gene DOID:630 genetic disease ISO RGD:1350189 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10601282|PMID:11343308|PMID:12490062|PMID:15146460|PMID:18407553|PMID:21061399|PMID:22521419|PMID:22976768|PMID:22976788|PMID:24816101|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:28166811|PMID:28492532|PMID:30809705|PMID:31536183|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9700599 9057371 Card14 caspase recruitment domain family member 14 gene DOID:8893 psoriasis ISO RGD:1350189 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Psoriasis 2, pustular PMID:22521418|PMID:22521419 9057371 Card14 caspase recruitment domain family member 14 gene DOID:9005678 Familial Pityriasis Rubra Pilaris ISO RGD:1350189 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial pityriasis rubra pilaris | ClinVar Annotator: match by term: Pityriasis rubra pilaris--familial type PMID:17576681|PMID:24033266|PMID:25741868|PMID:26358359|PMID:28492532|PMID:9536098 9057371 Card14 caspase recruitment domain family member 14 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1350189 D RGD:7240710 20180130 OMIM 9057371 Card14 caspase recruitment domain family member 14 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1350189 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Papulosquamous eruptions | ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:16199547|PMID:17576681|PMID:22421419|PMID:22521418|PMID:22521419|PMID:22703878|PMID:23648549|PMID:23905699|PMID:24033266|PMID:24999592|PMID:25640679|PMID:25734815|PMID:25741868|PMID:25989471|PMID:26130407|PMID:26203641|PMID:26358359|PMID:26984337|PMID:27140437|PMID:27706581|PMID:28135719|PMID:28166811|PMID:28230860|PMID:28295164|PMID:28492532|PMID:28776328|PMID:28887889|PMID:29477734|PMID:29704870|PMID:30248356|PMID:30387497|PMID:30697821|PMID:30998217|PMID:31971270|PMID:31971603|PMID:32199921|PMID:32725812|PMID:34004138|PMID:34448248|PMID:36174714|PMID:36221432|PMID:8178173|PMID:9536098 9057405 Spen spen family transcriptional repressor gene DOID:0060041 autism spectrum disorder ISO RGD:1350979 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9057405 Spen spen family transcriptional repressor gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1350979 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9057405 Spen spen family transcriptional repressor gene DOID:2661 myoepithelioma ISO RGD:1350979 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9057405 Spen spen family transcriptional repressor gene DOID:3007 breast ductal carcinoma ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ductal breast carcinoma 9057405 Spen spen family transcriptional repressor gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1350979 D RGD:9068941 20220128 RGD associated with Neoplasm Metastasis; DNA:mutations PMID:33363385|REF_RGD_ID:151347445 9057405 Spen spen family transcriptional repressor gene DOID:630 genetic disease ISO RGD:1350979 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28191890|PMID:33004838|PMID:33596411 9057405 Spen spen family transcriptional repressor gene DOID:9002304 Prostatic Neoplasms ISO RGD:1350979 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9057405 Spen spen family transcriptional repressor gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1350979 D RGD:7240710 20210623 OMIM 9057405 Spen spen family transcriptional repressor gene DOID:9006249 RADIO-TARTAGLIA SYNDROME ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radio-Tartaglia syndrome PMID:25741868|PMID:33596411 9057405 Spen spen family transcriptional repressor gene DOID:9008582 Developmental Disease ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9057405 Spen spen family transcriptional repressor gene DOID:9261 nasopharynx carcinoma disease_progression ISO RGD:1350979 D RGD:9068941 20220128 RGD protein:increased expression:mucosa of nasopharynx (human) PMID:32641685|REF_RGD_ID:151347437 9057405 Spen spen family transcriptional repressor gene DOID:936 brain disease ISO RGD:1350979 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Encephalopathy PMID:25741868|PMID:33596411 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:0050952 spastic ataxia ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:25741868|PMID:26467025|PMID:28492532 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1320201 D RGD:7240710 20180130 OMIM 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:0110729 neuronal ceroid lipofuscinosis 6A ISO RGD:1320201 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:15265688|PMID:15996215|PMID:16199547|PMID:17453415|PMID:17576681|PMID:18414213|PMID:18684116|PMID:18811591|PMID:18846690|PMID:19135028|PMID:19201763|PMID:20020536|PMID:20301601|PMID:21359198|PMID:21549341|PMID:21819394|PMID:21990111|PMID:25359263|PMID:25401298|PMID:25590979|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26115733|PMID:26206375|PMID:26374131|PMID:26467025|PMID:26539891|PMID:27553520|PMID:27903347|PMID:28492532|PMID:28587997|PMID:28831385|PMID:29140481|PMID:29709712|PMID:30019023|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31216804|PMID:31319225|PMID:31489614|PMID:31743419|PMID:32171521|PMID:33024953|PMID:34597687|PMID:34868216|PMID:35505348|PMID:9536098 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:0110730 neuronal ceroid lipofuscinosis 6B ISO RGD:1320201 D RGD:7240710 20180314 OMIM 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:0110730 neuronal ceroid lipofuscinosis 6B ISO RGD:1320201 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 4A autosomal recessive | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A PMID:12673792|PMID:12815591|PMID:14997940|PMID:18846690|PMID:19135028|PMID:19201763|PMID:21549341|PMID:21990111|PMID:25359263|PMID:25741868|PMID:26075876|PMID:26115733|PMID:26467025|PMID:26539891|PMID:27535533|PMID:27903347|PMID:28492532|PMID:30285654|PMID:30561534|PMID:31489614|PMID:3284607|PMID:33875558|PMID:34868216|PMID:35505348|PMID:36435927 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1320201 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:15996215|PMID:16199547|PMID:17046213|PMID:17453415|PMID:17576681|PMID:17988881|PMID:18414213|PMID:18684116|PMID:18811591|PMID:18846690|PMID:19135028|PMID:19201763|PMID:20020536|PMID:20301601|PMID:20430023|PMID:21359198|PMID:21549341|PMID:21819394|PMID:21990111|PMID:22883287|PMID:24102492|PMID:24215330|PMID:25359263|PMID:25401298|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26115733|PMID:26206375|PMID:26374131|PMID:26467025|PMID:26539891|PMID:27535533|PMID:27553520|PMID:27903347|PMID:28492532|PMID:28587997|PMID:28831385|PMID:29140481|PMID:29709712|PMID:30019023|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31216804|PMID:31319225|PMID:31489614|PMID:31741823|PMID:31743419|PMID:32171521|PMID:33024953|PMID:34597687|PMID:34868216|PMID:35505348|PMID:36435927|PMID:9536098 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:1826 epilepsy ISO RGD:1320201 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:16199547|PMID:19135028|PMID:21359198|PMID:21549341|PMID:21990111|PMID:25359263|PMID:25741868|PMID:26075876|PMID:26467025|PMID:27535533|PMID:27553520|PMID:28492532|PMID:30019023|PMID:30285654|PMID:30561534 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:2717 Bloom syndrome ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:630 genetic disease ISO RGD:1320201 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11727201|PMID:11791207|PMID:12673792|PMID:12815591|PMID:14997940|PMID:15265688|PMID:16199547|PMID:17576681|PMID:18811591|PMID:19135028|PMID:20301601|PMID:20430023|PMID:21359198|PMID:21549341|PMID:21990111|PMID:25359263|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26206375|PMID:26467025|PMID:27535533|PMID:27553520|PMID:28492532|PMID:30019023|PMID:30285654|PMID:30528883|PMID:30561534|PMID:31489614|PMID:35505348|PMID:9536098 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:9000343 Vision Disorders ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:9001981 Weight Loss ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:9004462 Atrophy ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:9005372 Inflammation ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:9006205 Animal Disease Models ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:9006534 Nervous System Malformations ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:9256 colorectal cancer ISO RGD:1320201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9057426 Cln6 CLN6 transmembrane ER protein gene DOID:9923 developmental coordination disorder ISO RGD:1320201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23789114 9057444 Itln1 intelectin 1 gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1346201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 9057444 Itln1 intelectin 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9057444 Itln1 intelectin 1 gene DOID:630 genetic disease ISO RGD:1346201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057444 Itln1 intelectin 1 gene DOID:9001747 Ventricular Dysfunction, Left ISO RGD:1346201 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:23555749 9057444 Itln1 intelectin 1 gene DOID:9003566 Mesothelioma ISO RGD:1346201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15777968 9057444 Itln1 intelectin 1 gene DOID:9006474 Arterial Occlusive Diseases ISO RGD:1346201 D RGD:9068941 20230831 RGD mRNA:decreased expression:leg blood vessel (human) PMID:22721676|REF_RGD_ID:401793723 9057444 Itln1 intelectin 1 gene DOID:9006778 Carotid Atherosclerosis severity ISO RGD:1346201 D RGD:9068941 20230601 RGD protein:decreased expression:blood serum (human) PMID:24956535|REF_RGD_ID:329845846 9057444 Itln1 intelectin 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9057444 Itln1 intelectin 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1346201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23555749 9057470 Ncln nicalin gene DOID:10487 Hirschsprung's disease ISO RGD:1343218 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 9057470 Ncln nicalin gene DOID:630 genetic disease ISO RGD:1343218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057470 Ncln nicalin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9057495 Stmnd1 stathmin domain containing 1 gene DOID:630 genetic disease ISO RGD:7205150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30976395|PMID:31736247|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:31736247|PMID:32037395|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31736247|PMID:32037395|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32420686|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0050439 Usher syndrome ISO RGD:1318161 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome PMID:14740321|PMID:15671307|PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24154662|PMID:24498627|PMID:25133751|PMID:25404053|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27575413|PMID:28041643|PMID:28492532|PMID:29099798|PMID:30029497|PMID:30311386|PMID:30459346|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31736247|PMID:31980526|PMID:32037395|PMID:32420686|PMID:32467589|PMID:32581362|PMID:33089500|PMID:33297549|PMID:35813073|PMID:36909829 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive PMID:28492532|PMID:28951997|PMID:30303587 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0060688 arteriovenous malformations of the brain ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral arteriovenous malformation PMID:25741868 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0110826 Usher syndrome type 1 ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:21569298|PMID:24033266|PMID:28492532 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0110827 Usher syndrome type 2 ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:24123792|PMID:25741868|PMID:26226137|PMID:28492532|PMID:29924869|PMID:30245029|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31980526|PMID:32037395|PMID:32467589 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0110838 Usher syndrome type 2A ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1318161 D RGD:7240710 20180130 OMIM 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0110839 Usher syndrome type 2C ISO RGD:1318161 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ADGRV1-related condition | ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic PMID:10234513|PMID:14740321|PMID:15671307|PMID:16199547|PMID:17576681|PMID:18414213|PMID:18854872|PMID:19357116|PMID:19357117|PMID:20440071|PMID:21569298|PMID:21946352|PMID:22135276|PMID:22147658|PMID:22334370|PMID:22952768|PMID:23441107|PMID:23767834|PMID:23934111|PMID:23967202|PMID:24033266|PMID:24123792|PMID:24154662|PMID:24498627|PMID:25133751|PMID:25262649|PMID:25324289|PMID:25333064|PMID:25404053|PMID:25412400|PMID:25468891|PMID:25741868|PMID:25741869|PMID:26164827|PMID:26226137|PMID:26338283|PMID:26346818|PMID:26467025|PMID:26667666|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27108799|PMID:27460420|PMID:27575413|PMID:27884173|PMID:28041643|PMID:28492532|PMID:29142287|PMID:29261713|PMID:29907799|PMID:30029497|PMID:30180840|PMID:30245029|PMID:30311386|PMID:30718709|PMID:31046701|PMID:31047384|PMID:32037395|PMID:32420686|PMID:32467589|PMID:32707200|PMID:32747562|PMID:32860008|PMID:32962041|PMID:33089500|PMID:33105617|PMID:33247286|PMID:34997062|PMID:35802133|PMID:35813073|PMID:36633841|PMID:9536098 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0111305 familial febrile seizures 4 ISO RGD:1318161 D RGD:7240710 20180130 OMIM 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0111305 familial febrile seizures 4 ISO RGD:1318161 D RGD:8554872 20231219 ClinVar ClinVar Annotator: match by term: CONVULSIONS, FAMILIAL FEBRILE, 4 | ClinVar Annotator: match by term: Febrile seizures, familial, 4 PMID:12402266|PMID:14740321|PMID:15671307|PMID:16199547|PMID:18414213|PMID:19357117|PMID:22135276|PMID:22147658|PMID:22334370|PMID:24033266|PMID:24498627|PMID:25333064|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26467025|PMID:27575413|PMID:28041643|PMID:28492532|PMID:30180840|PMID:30311386|PMID:30718709|PMID:31047384|PMID:32467589 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:0111307 familial febrile seizures 1 ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 1 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:10584 retinitis pigmentosa ISO RGD:1318161 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:18414213|PMID:19357117|PMID:22135276|PMID:22147658|PMID:22334370|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26667666|PMID:28492532|PMID:30029497|PMID:30718709|PMID:32467589 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:1826 epilepsy ISO RGD:1318161 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Seizure PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:22135276|PMID:24033266|PMID:24123792|PMID:28492532|PMID:30245029 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:3633 beta-mannosidosis ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:28492532|PMID:30311386 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:630 genetic disease ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:8501 fundus dystrophy ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:19357117|PMID:22135276|PMID:22147658|PMID:23462753|PMID:24033266|PMID:24154662|PMID:25133751|PMID:25404053|PMID:25412400|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26667666|PMID:26969326|PMID:27068579|PMID:27460420|PMID:28041643|PMID:28492532|PMID:30029497|PMID:30311386|PMID:30718709|PMID:31047384|PMID:31456290|PMID:31980526|PMID:32037395|PMID:32467589|PMID:32581362 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:9001128 Usher Syndrome, Type 2B ISO RGD:1318161 D RGD:8554872 20231219 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2B PMID:14740321|PMID:15671307|PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25333064|PMID:25741868|PMID:26164827|PMID:26226137|PMID:26338283|PMID:27460420|PMID:27575413|PMID:28041643|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31047384|PMID:32467589 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:9004538 Hearing Loss ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26467025|PMID:26667666|PMID:27460420|PMID:28157192|PMID:28492532|PMID:30029497|PMID:30311386|PMID:30718709|PMID:32467589 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:9004538 Hearing Loss ISO RGD:1318161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19357117|PMID:22135276|PMID:22147658|PMID:24033266|PMID:25741868|PMID:26226137|PMID:26467025|PMID:27460420|PMID:28157192|PMID:28492532|PMID:30311386|PMID:30718709|PMID:31047384|PMID:32467589 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318161 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9057518 Adgrv1 adhesion G protein-coupled receptor V1 gene DOID:9849 Meniere's disease ISO RGD:1318161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 9057612 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 9057612 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9057612 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9057612 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1342982 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9057612 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9057612 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1342982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 9057612 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:5812 MHC class II deficiency ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9057612 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:630 genetic disease ISO RGD:1342982 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057612 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1342982 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 9057612 Cct3 chaperonin containing TCP1 subunit 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1342982 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9057638 Hbb hemoglobin subunit beta gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:736606 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:1726094|PMID:25741868|PMID:7558877|PMID:893142 9057638 Hbb hemoglobin subunit beta gene DOID:0080770 autosomal dominant beta thalassemia ISO RGD:736606 D RGD:7240710 20180130 OMIM 9057638 Hbb hemoglobin subunit beta gene DOID:0080770 autosomal dominant beta thalassemia ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE PMID:10203101|PMID:10335989|PMID:10367791|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11791873|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12324499|PMID:12368169|PMID:12383672|PMID:12403498|PMID:12702481|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:1390250|PMID:14084634|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:1517108|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:1740317|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20113284|PMID:20132300|PMID:20181291|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20642336|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20854120|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22737496|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:23859443|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24265529|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599884|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26594346 9057638 Hbb hemoglobin subunit beta gene DOID:0080770 autosomal dominant beta thalassemia ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE PMID:26661037|PMID:26877226|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27453201|PMID:27690257|PMID:27756326|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:2920213|PMID:29240028|PMID:29295702|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30046479|PMID:3014870|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31190580|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33335418|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33829933|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35052472|PMID:35982159|PMID:35982160|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4129558|PMID:4232783|PMID:4351905|PMID:4361439|PMID:4683875|PMID:49057|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:8161774|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:8978308|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:9949622 9057638 Hbb hemoglobin subunit beta gene DOID:0080771 beta-thalassemia major ISO RGD:736606 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E PMID:10081986|PMID:10203101|PMID:10335989|PMID:10367791|PMID:10520021|PMID:1052173|PMID:10583251|PMID:10602954|PMID:10606872|PMID:10612821|PMID:10815781|PMID:10861818|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11300355|PMID:11425418|PMID:11523095|PMID:11545326|PMID:11559932|PMID:1163074|PMID:1164567|PMID:11713529|PMID:1173714|PMID:11741197|PMID:1177278|PMID:11791873|PMID:11791878|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:11943067|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12144064|PMID:12149194|PMID:12172041|PMID:12210807|PMID:12324499|PMID:12368169|PMID:12383672|PMID:12403491|PMID:12403498|PMID:1244906|PMID:12488606|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716853|PMID:1374896|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13897827|PMID:1390250|PMID:13911805|PMID:14081243|PMID:14084634|PMID:14160125|PMID:1420507|PMID:1427786|PMID:14282052|PMID:1428944|PMID:1428947|PMID:14343445|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14649318|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:1487424|PMID:14973|PMID:15000665|PMID:15065210|PMID:15108284|PMID:15114532|PMID:1517108|PMID:1517111|PMID:15181845|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15352994|PMID:15395398|PMID:15470211|PMID:15481884|PMID:15481885|PMID:15481886|PMID:15481891|PMID:15481893|PMID:15481896|PMID:1550780|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15658190|PMID:15697092|PMID:15761692|PMID:15768552|PMID:1577489|PMID:1581247|PMID:1586746|PMID:15929117|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634366|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:17008283|PMID:1705411|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1729892|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17655700|PMID:1769663|PMID:17774955|PMID:1787101|PMID:17900295|PMID:17932132|PMID:17949282|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18403562|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18603555|PMID:18619001|PMID:18654889|PMID:1873227|PMID:18759082|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:1917531|PMID:19205970|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19500561|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1985702|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19958185|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20113284|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20324533|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20524821|PMID:20628988|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21232998|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21353607|PMID:21389146|PMID:21417574|PMID:21423179 9057638 Hbb hemoglobin subunit beta gene DOID:0080771 beta-thalassemia major ISO RGD:736606 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E PMID:21509314|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21797702|PMID:21797703|PMID:21879898|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22110956|PMID:22122796|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22690826|PMID:22737496|PMID:22738642|PMID:2283297|PMID:2283300|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:2310691|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23651435|PMID:2366586|PMID:23729725|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23915319|PMID:2393018|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24719849|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26097845|PMID:26182339|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264598|PMID:27265760|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27535164|PMID:2753736|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28503568|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29157184|PMID:2915972|PMID:2917193|PMID:2920213|PMID:29240028|PMID:29251008|PMID:29295702|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:3014870|PMID:30173596|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626242 9057638 Hbb hemoglobin subunit beta gene DOID:0080771 beta-thalassemia major ISO RGD:736606 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E PMID:30843739|PMID:31096791|PMID:31106603|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31145010|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:3130858|PMID:31395865|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:3267215|PMID:32722952|PMID:32860008|PMID:32885601|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33491330|PMID:3354556|PMID:33602051|PMID:3382401|PMID:33829933|PMID:33851260|PMID:3387213|PMID:33966551|PMID:33971252|PMID:3403716|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34426522|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35336809|PMID:3557993|PMID:3557998|PMID:35615994|PMID:36073655|PMID:36184|PMID:3623977|PMID:3671081|PMID:3683554|PMID:3690667|PMID:3752087|PMID:3754244|PMID:3758492|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4413625|PMID:4841979|PMID:49057|PMID:4991321|PMID:4994348|PMID:5050915|PMID:5129589|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5773089|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5886928|PMID:5915974|PMID:5961314|PMID:5996551|PMID:6019668|PMID:6021187|PMID:6033745|PMID:6034218|PMID:6054484|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204096|PMID:721609|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7507641|PMID:7522523|PMID:7558878|PMID:7599641|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7683931|PMID:7713749|PMID:7755625|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7929232|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:8112743|PMID:8144357|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:826073|PMID:8262525|PMID:8318995|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8811316|PMID:8839873|PMID:88735|PMID:8874232|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9653159|PMID:974261|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:993333|PMID:9949622 9057638 Hbb hemoglobin subunit beta gene DOID:0080771 beta-thalassemia major ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E PMID:21509314|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21797702|PMID:21797703|PMID:21879898|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22110956|PMID:22122796|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22690826|PMID:22737496|PMID:22738642|PMID:2283297|PMID:2283300|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:2310691|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23651435|PMID:2366586|PMID:23729725|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23915319|PMID:2393018|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24719849|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25741868|PMID:25741895|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26097845|PMID:26182339|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26291972|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264598|PMID:27265760|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27535164|PMID:2753736|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28503568|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29157184|PMID:2915972|PMID:2917193|PMID:2920213|PMID:29240028|PMID:29251008|PMID:29295702|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:3014870|PMID:30173596|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691 9057638 Hbb hemoglobin subunit beta gene DOID:0080771 beta-thalassemia major ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E PMID:30604644|PMID:30626242|PMID:30820323|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31126755|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31145010|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:3130858|PMID:31395865|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31890591|PMID:31973650|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:3267215|PMID:32722952|PMID:32860008|PMID:32885601|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33491330|PMID:3354556|PMID:33602051|PMID:3382401|PMID:33829933|PMID:33851260|PMID:33867742|PMID:3387213|PMID:33966551|PMID:33971252|PMID:3403716|PMID:34092029|PMID:34100337|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34426522|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35336809|PMID:3557993|PMID:3557998|PMID:35615994|PMID:35982159|PMID:35982160|PMID:36073655|PMID:36184|PMID:3623977|PMID:3671081|PMID:3683554|PMID:3690667|PMID:3752087|PMID:3754244|PMID:3758492|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4413625|PMID:4841979|PMID:49057|PMID:4991321|PMID:4994348|PMID:5050915|PMID:5129589|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5773089|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5886928|PMID:5915974|PMID:5961314|PMID:5996551|PMID:6019668|PMID:6021187|PMID:6033745|PMID:6034218|PMID:6054484|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204096|PMID:721609|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7507641|PMID:7522523|PMID:7558878|PMID:7599641|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7683931|PMID:7713749|PMID:7755625|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7929232|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:8112743|PMID:8144357|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:826073|PMID:8262525|PMID:8318995|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8811316|PMID:8839873|PMID:88735|PMID:8874232|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9653159|PMID:974261|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:993333|PMID:9949622 9057638 Hbb hemoglobin subunit beta gene DOID:0080772 beta-thalassemia intermedia ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Beta thalassemia intermedia | ClinVar Annotator: match by term: Thalassemia intermedia PMID:10606872|PMID:10870887|PMID:11300352|PMID:11532628|PMID:11809258|PMID:11857738|PMID:11857746|PMID:12139763|PMID:12144056|PMID:12324499|PMID:12368169|PMID:12709369|PMID:12779270|PMID:1301199|PMID:1428943|PMID:14555318|PMID:1463768|PMID:1550780|PMID:15658193|PMID:1586746|PMID:1634236|PMID:16732578|PMID:17007829|PMID:17145605|PMID:17365006|PMID:17486493|PMID:17576681|PMID:17606453|PMID:1777603|PMID:17994378|PMID:18076350|PMID:1814858|PMID:18294253|PMID:18339318|PMID:18603555|PMID:18759082|PMID:19103851|PMID:1917531|PMID:19254853|PMID:19437135|PMID:19460936|PMID:1954392|PMID:2018842|PMID:20301599|PMID:20437613|PMID:20524821|PMID:20704537|PMID:21119755|PMID:21228398|PMID:21423179|PMID:21845419|PMID:2200760|PMID:22089620|PMID:22392582|PMID:22734587|PMID:22975760|PMID:23094636|PMID:2310691|PMID:23525874|PMID:23590658|PMID:2375912|PMID:23915319|PMID:2399911|PMID:24450243|PMID:2446680|PMID:2458145|PMID:24719849|PMID:24828949|PMID:25087612|PMID:25155404|PMID:25370867|PMID:25480500|PMID:25617386|PMID:25677748|PMID:25741868|PMID:25825561|PMID:25910213|PMID:26029792|PMID:26041423|PMID:2634667|PMID:2634674|PMID:26467025|PMID:26594346|PMID:26635043|PMID:26901597|PMID:27263053|PMID:27635400|PMID:27756326|PMID:27821015|PMID:27828729|PMID:28125089|PMID:28276871|PMID:2837728|PMID:28385923|PMID:28492532|PMID:28503568|PMID:28670940|PMID:2917193|PMID:2920213|PMID:29893155|PMID:3002527|PMID:30309760|PMID:31240559|PMID:31395865|PMID:31589614|PMID:31718331|PMID:32069775|PMID:32885601|PMID:33851260|PMID:3446652|PMID:3457470|PMID:6188062|PMID:6280057|PMID:7507641|PMID:7530406|PMID:7599641|PMID:7632967|PMID:7655036|PMID:7794779|PMID:8037185|PMID:8111050|PMID:8199027|PMID:8435318|PMID:8438884|PMID:8477263|PMID:8874232|PMID:8980256|PMID:9028819|PMID:9101288|PMID:9140720|PMID:9450794|PMID:9536098|PMID:9792288 9057638 Hbb hemoglobin subunit beta gene DOID:0080773 delta beta-thalassemia ISO RGD:736606 D RGD:7240710 20180130 OMIM 9057638 Hbb hemoglobin subunit beta gene DOID:0080773 delta beta-thalassemia ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:10203101|PMID:10583251|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11559932|PMID:11713529|PMID:11791873|PMID:11857746|PMID:1186896|PMID:11939508|PMID:12000828|PMID:12144057|PMID:12368169|PMID:12383672|PMID:12403498|PMID:12764548|PMID:12779277|PMID:12818227|PMID:13108995|PMID:13115700|PMID:13618691|PMID:13685866|PMID:1390250|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15181845|PMID:15278762|PMID:15654898|PMID:15973412|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17994378|PMID:18048408|PMID:18294253|PMID:18603555|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19486366|PMID:19657842|PMID:19727720|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20437613|PMID:20642336|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20954261|PMID:21119755|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21389146|PMID:21417574|PMID:21509314|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22975760|PMID:2298457|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23859443|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:2412200|PMID:24200214|PMID:24245819|PMID:24369358|PMID:2446680|PMID:2458145|PMID:24616059|PMID:24616209|PMID:24777453|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25087612|PMID:25089872|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:25825561|PMID:25849334|PMID:25976460|PMID:2599884|PMID:26044735|PMID:2606727|PMID:26076395|PMID:26084319|PMID:26193974|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26467025|PMID:26554253|PMID:26594346|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27251090|PMID:27263053|PMID:27427187|PMID:27453201|PMID:27690257|PMID:27756326|PMID:27821015|PMID:27828729|PMID:27829304|PMID:2798417|PMID:28251416|PMID:28276871|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28670940|PMID:2867271|PMID:28865746|PMID:2888754|PMID:2898955|PMID:2903765|PMID:2920213|PMID:29295702|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30046479|PMID:30249157|PMID:30489691|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31134759|PMID:31190580|PMID:31553106|PMID:31589614|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32472543|PMID:32581362|PMID:32860008|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33491330|PMID:33602051|PMID:33829933|PMID:33851260|PMID:3422218|PMID:34426522|PMID:3462712|PMID:35023007|PMID:35052472|PMID:35982159|PMID:35982160|PMID:3623977|PMID:3691763|PMID:3840039|PMID:3859465|PMID:4683875|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5915974|PMID:6162860|PMID:6188062|PMID:6190800|PMID:6246994|PMID:6270663|PMID:6280057|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6826539|PMID:6896219|PMID:6985481|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7229029|PMID:7558878|PMID:7908281|PMID:8095930|PMID:8199027 9057638 Hbb hemoglobin subunit beta gene DOID:0080773 delta beta-thalassemia ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin | ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:8201467|PMID:8262525|PMID:8330981|PMID:8435318|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9834244|PMID:9845707|PMID:9949622 9057638 Hbb hemoglobin subunit beta gene DOID:0111363 Heinz body anemia ISO RGD:736606 D RGD:7240710 20180130 OMIM 9057638 Hbb hemoglobin subunit beta gene DOID:0111363 Heinz body anemia ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:10975446|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:1164567|PMID:11713529|PMID:1173714|PMID:11741197|PMID:1177278|PMID:11791873|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939506|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12368169|PMID:12383672|PMID:12403491|PMID:12403498|PMID:1244906|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13872094|PMID:1390250|PMID:14084634|PMID:14160125|PMID:14198723|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18081706|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:186485|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19958185|PMID:19960060|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20132300|PMID:2014803|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20642336|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21523319|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:2307460|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:23859443|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599881|PMID:2599884|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395 9057638 Hbb hemoglobin subunit beta gene DOID:0111363 Heinz body anemia ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia PMID:26079343|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27453201|PMID:2752127|PMID:27690257|PMID:27756326|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:2920213|PMID:29295702|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30046479|PMID:3021607|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626242|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31190580|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:31973650|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:3267215|PMID:32860008|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33829933|PMID:33851260|PMID:33867742|PMID:34092029|PMID:3422218|PMID:34233561|PMID:34334128|PMID:34426522|PMID:3457470|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35052472|PMID:3557993|PMID:3557998|PMID:3557999|PMID:35982159|PMID:35982160|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3768534|PMID:3781865|PMID:3799593|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3937827|PMID:3957690|PMID:4078867|PMID:4232783|PMID:4281476|PMID:4351905|PMID:4407364|PMID:4514958|PMID:4525423|PMID:4683875|PMID:4808645|PMID:49057|PMID:4942314|PMID:4991321|PMID:5050915|PMID:5059650|PMID:5079107|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5672850|PMID:5698750|PMID:5785231|PMID:5856115|PMID:5863839|PMID:5869485|PMID:5881530|PMID:5915974|PMID:6019668|PMID:6029950|PMID:6050213|PMID:6067323|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:711920|PMID:7137165|PMID:7151176|PMID:7177196|PMID:721609|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7357091|PMID:7384810|PMID:7395858|PMID:750553|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7860732|PMID:7864023|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8824225|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 9057638 Hbb hemoglobin subunit beta gene DOID:0111632 familial erythrocytosis 6 ISO RGD:736606 D RGD:7240710 20190315 OMIM 9057638 Hbb hemoglobin subunit beta gene DOID:0111632 familial erythrocytosis 6 ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 6 | ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE PMID:10203101|PMID:10335979|PMID:10335989|PMID:1052179|PMID:1052180|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10722117|PMID:10815781|PMID:10846826|PMID:11001883|PMID:1112610|PMID:1117598|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:1164510|PMID:1164511|PMID:11713529|PMID:11741197|PMID:11791873|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939509|PMID:11939510|PMID:11946541|PMID:12000828|PMID:1201208|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12368169|PMID:12383672|PMID:124|PMID:12403498|PMID:1246355|PMID:1249207|PMID:12702481|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:1390250|PMID:14081243|PMID:14084634|PMID:14117783|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:16987804|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17795074|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:1814856|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18793248|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20642336|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20942|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:234980|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:23859443|PMID:2393712|PMID:239863|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200101|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599884|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667 9057638 Hbb hemoglobin subunit beta gene DOID:0111632 familial erythrocytosis 6 ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 6 | ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26897028|PMID:26956563|PMID:2703368|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27453201|PMID:27651169|PMID:27690257|PMID:27756326|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28685465|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29054|PMID:29199120|PMID:2920213|PMID:29295702|PMID:29319890|PMID:29484903|PMID:29695942|PMID:29790589|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30046479|PMID:30249157|PMID:3031297|PMID:30315176|PMID:30423154|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31132167|PMID:31134759|PMID:3114176|PMID:31190580|PMID:31268351|PMID:31304856|PMID:31388287|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32069775|PMID:3207692|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33000750|PMID:33091040|PMID:33116287|PMID:3348204|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33829933|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35052472|PMID:35982159|PMID:35982160|PMID:36073655|PMID:3623972|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3793825|PMID:3821796|PMID:3839762|PMID:3840039|PMID:3859465|PMID:3930571|PMID:3935609|PMID:3957690|PMID:3957694|PMID:4232783|PMID:4338724|PMID:4342316|PMID:4351905|PMID:4413656|PMID:4514629|PMID:4639015|PMID:4683875|PMID:4719677|PMID:4742453|PMID:478981|PMID:4808644|PMID:4808645|PMID:49057|PMID:5011106|PMID:5026295|PMID:5073564|PMID:5080413|PMID:5128393|PMID:5280664|PMID:5282843|PMID:5347519|PMID:5481775|PMID:5492847|PMID:5609824|PMID:5619995|PMID:563749|PMID:5651043|PMID:5658717|PMID:5687529|PMID:5773089|PMID:5775133|PMID:5796352|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6061751|PMID:6061752|PMID:6067323|PMID:6162860|PMID:6166590|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:639985|PMID:6434492|PMID:6457059|PMID:6500987|PMID:6546989|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6589624|PMID:6629830|PMID:6695908|PMID:6714226|PMID:6745619|PMID:678476|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6863429|PMID:6874372|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7097767|PMID:7137165|PMID:7151176|PMID:7158624|PMID:7161106|PMID:7177196|PMID:7204092|PMID:7204093|PMID:7229029|PMID:7295777|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7417488|PMID:747183|PMID:750556|PMID:7522523|PMID:7558878|PMID:7615400|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:8144354|PMID:8168595|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:826083|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8701949|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:8954892|PMID:9028827|PMID:903694|PMID:9048934|PMID:909565|PMID:9101280|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:949044|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 9057638 Hbb hemoglobin subunit beta gene DOID:10241 thalassemia ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN J (BALTIMORE) | ClinVar Annotator: match by term: Hemoglobin Lepore trait | ClinVar Annotator: match by term: Thalassemia PMID:1347969|PMID:13703277|PMID:13843994|PMID:13892631|PMID:14092068|PMID:14117783|PMID:14133899|PMID:14194270|PMID:14282052|PMID:14449876|PMID:14478740|PMID:16114186|PMID:16178917|PMID:1693293|PMID:17709689|PMID:19429541|PMID:19750260|PMID:20206586|PMID:24200101|PMID:2442092|PMID:25130136|PMID:25741868|PMID:26467025|PMID:26901597|PMID:27207683|PMID:27535164|PMID:28791912|PMID:31553106|PMID:3957922|PMID:4625560|PMID:511585|PMID:5125343|PMID:5356627|PMID:5481775|PMID:5660684|PMID:5872025|PMID:5964983|PMID:6026391|PMID:6859036|PMID:700140|PMID:701081|PMID:857849|PMID:8745435 9057638 Hbb hemoglobin subunit beta gene DOID:10780 primary polycythemia ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN JOHNSTOWN | ClinVar Annotator: match by term: HEMOGLOBIN NEW MEXICO PMID:11074558|PMID:15658189|PMID:17952198|PMID:19257|PMID:22563907|PMID:2272838|PMID:26467025 9057638 Hbb hemoglobin subunit beta gene DOID:10783 methemoglobinemia ISO RGD:736606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15929117 9057638 Hbb hemoglobin subunit beta gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:7240710 20180130 OMIM 9057638 Hbb hemoglobin subunit beta gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S PMID:23637309|PMID:23651435|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:24957539|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25332633|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26544676|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26956563|PMID:27032675|PMID:2703363|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27521855|PMID:27521862|PMID:2753736|PMID:27670359|PMID:27690257|PMID:27718361|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28698850|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29157184|PMID:2915972|PMID:29240028|PMID:2930724|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29519374|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:3014870|PMID:30249157|PMID:30275481|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30626242|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31164695|PMID:31240559|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32411010|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33279152|PMID:33287582|PMID:33335418|PMID:33489049|PMID:3354556|PMID:33851260|PMID:3403716|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34426522|PMID:34474730|PMID:3462712|PMID:34749363|PMID:35287566|PMID:3557993|PMID:3557994|PMID:3557998|PMID:36073655|PMID:3623977|PMID:3683554|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3942130|PMID:3955238|PMID:3957690|PMID:4018033|PMID:4078867|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4683875|PMID:4715135|PMID:4725603|PMID:49057|PMID:4991321|PMID:5050915|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5672850|PMID:5722880|PMID:5863839|PMID:5915974|PMID:6016610|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6292840|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6664996|PMID:6668188|PMID:6671904|PMID:6695908|PMID:6714226|PMID:6733281 9057638 Hbb hemoglobin subunit beta gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S PMID:6745619|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7073867|PMID:7076659|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7668221|PMID:7691242|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7908281|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:8144357|PMID:8161774|PMID:81926|PMID:8195010|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8494004|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:8978308|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:974261|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:9949622 9057638 Hbb hemoglobin subunit beta gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S PMID:10203101|PMID:10335989|PMID:10367791|PMID:10520021|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11196276|PMID:11300348|PMID:11425418|PMID:1148394|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11734002|PMID:11741197|PMID:1177278|PMID:11791873|PMID:11791878|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:11943067|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12144064|PMID:12149194|PMID:12172041|PMID:12210807|PMID:12324499|PMID:12368169|PMID:12383672|PMID:12403491|PMID:12403498|PMID:1244906|PMID:12488606|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13872094|PMID:1390250|PMID:14084634|PMID:14160125|PMID:14197371|PMID:1427786|PMID:14282052|PMID:1428944|PMID:1428947|PMID:14370233|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:1517108|PMID:1517111|PMID:15181845|PMID:15257926|PMID:15278762|PMID:15333505|PMID:15395398|PMID:15470211|PMID:15470216|PMID:15481886|PMID:1550780|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15697092|PMID:15727901|PMID:15761692|PMID:15768552|PMID:1581247|PMID:1586746|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634366|PMID:1634368|PMID:16370487|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16750922|PMID:1680789|PMID:16821247|PMID:17008283|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17655700|PMID:17655708|PMID:1769663|PMID:17774955|PMID:1787101|PMID:17932132|PMID:17949282|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18081706|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18495504|PMID:1850955|PMID:18568278|PMID:18603555|PMID:1873227|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19631632|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19758965|PMID:19783722|PMID:19841268|PMID:19843386|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19958185|PMID:19958198|PMID:19960060|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20090224|PMID:20110664|PMID:20113284|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20524821|PMID:20628988|PMID:20642336|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20838957|PMID:20854120|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21529713|PMID:21599435|PMID:21732929|PMID:21733559|PMID:21797702|PMID:21797703|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22075726|PMID:22110956|PMID:22145566|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22690826|PMID:22737496|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:22995479|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23144702|PMID:23162295|PMID:23234478 9057638 Hbb hemoglobin subunit beta gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:23543793|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23651435|PMID:23729725|PMID:23859443|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:24957539|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25332633|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599884|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26544676|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26956563|PMID:27032675|PMID:2703363|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27453201|PMID:27521855|PMID:27521862|PMID:2753736|PMID:27670359|PMID:27690257|PMID:27718361|PMID:27756326|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28698850|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29157184|PMID:2915972|PMID:2920213|PMID:29240028|PMID:29295702|PMID:2930724|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29519374|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30046479|PMID:3014870|PMID:30249157|PMID:30275481|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626242|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:31973650|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32411010|PMID:32412692|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33279152|PMID:33287582|PMID:33335418|PMID:33489049|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33829933|PMID:33851260|PMID:33867742|PMID:3403716|PMID:34092029|PMID:34100337|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34426522|PMID:34474730|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35052472|PMID:35287566|PMID:3557993|PMID:3557994|PMID:3557998|PMID:35615994|PMID:35982159|PMID:35982160|PMID:36073655|PMID:3623977|PMID:3683554|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3942130|PMID:3955238|PMID:3957690|PMID:4018033|PMID:4078867|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4683875|PMID:4715135|PMID:4725603|PMID:49057|PMID:4991321|PMID:5050915|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5672850|PMID:5722880|PMID:5863839|PMID:5915974|PMID:6016610 9057638 Hbb hemoglobin subunit beta gene DOID:10923 sickle cell anemia ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN KORLE-BU | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6292840|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6664996|PMID:6668188|PMID:6671904|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7073867|PMID:7076659|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7668221|PMID:7691242|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7908281|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:8144357|PMID:8161774|PMID:81926|PMID:8195010|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8494004|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:8978308|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:974261|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:9949622 9057638 Hbb hemoglobin subunit beta gene DOID:1099 alpha thalassemia ISO RGD:736606 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:12702481|PMID:12764548|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1347969|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13892631|PMID:1390250|PMID:14084634|PMID:14133899|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1693293|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20642331|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23637309|PMID:23647352|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2442092|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271 9057638 Hbb hemoglobin subunit beta gene DOID:1099 alpha thalassemia ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11791873|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12368169|PMID:12383672|PMID:12403498|PMID:12702481|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1347969|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13892631|PMID:1390250|PMID:14084634|PMID:14133899|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1693293|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20642336|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:23859443|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2442092|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599884|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187 9057638 Hbb hemoglobin subunit beta gene DOID:1099 alpha thalassemia ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia PMID:27453201|PMID:27690257|PMID:27756326|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:2920213|PMID:29295702|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30046479|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31190580|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33829933|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35052472|PMID:35982159|PMID:35982160|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4232783|PMID:4351905|PMID:4625560|PMID:4683875|PMID:49057|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5660684|PMID:5863839|PMID:5915974|PMID:5964983|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8280608|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 9057638 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:7240710 20180130 OMIM 9057638 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:10081986|PMID:10203101|PMID:10233364|PMID:10335988|PMID:10335989|PMID:10367791|PMID:10520021|PMID:1052173|PMID:1052174|PMID:10569722|PMID:10569730|PMID:10583251|PMID:10602954|PMID:10606872|PMID:10612821|PMID:10706767|PMID:10756381|PMID:10776695|PMID:10815781|PMID:10840054|PMID:10861818|PMID:10870880|PMID:10870887|PMID:10975446|PMID:10997336|PMID:11001883|PMID:11074564|PMID:1112610|PMID:11167851|PMID:11179419|PMID:11186258|PMID:11186262|PMID:11186264|PMID:11279660|PMID:11300343|PMID:11300348|PMID:11300351|PMID:11300352|PMID:11300355|PMID:11425418|PMID:11480785|PMID:1148394|PMID:11523095|PMID:11532628|PMID:11545326|PMID:11559932|PMID:11570721|PMID:1163074|PMID:1164567|PMID:11713529|PMID:11722417|PMID:11734002|PMID:1173714|PMID:11741197|PMID:11757720|PMID:1177278|PMID:11791873|PMID:11791874|PMID:11791878|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939506|PMID:11939508|PMID:11939510|PMID:11939511|PMID:11939518|PMID:11939519|PMID:11943067|PMID:12000828|PMID:12124399|PMID:12139763|PMID:12144055|PMID:12144056|PMID:12144057|PMID:12144059|PMID:12144064|PMID:12144066|PMID:12149194|PMID:12172041|PMID:12189174|PMID:12210807|PMID:12324499|PMID:12353305|PMID:12368169|PMID:12383672|PMID:12403488|PMID:12403491|PMID:12403498|PMID:12430907|PMID:1244906|PMID:12488606|PMID:12508270|PMID:12621249|PMID:12702481|PMID:12709369|PMID:1272328|PMID:12752111|PMID:12764548|PMID:12779270|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12885342|PMID:12908806|PMID:12955718|PMID:1301199|PMID:1301203|PMID:1301930|PMID:1301952|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716727|PMID:13716853|PMID:1374896|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13897827|PMID:1390250|PMID:13911805|PMID:1398296|PMID:14081243|PMID:14084634|PMID:14160125|PMID:14197371|PMID:14198723|PMID:1420507|PMID:1427786|PMID:14282052|PMID:1428943|PMID:1428944|PMID:1428946|PMID:1428947|PMID:14311973|PMID:14343445|PMID:14370233|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14649318|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:1487424|PMID:14973|PMID:15000665|PMID:15008262|PMID:15008267|PMID:15009072|PMID:15065210|PMID:15108284|PMID:15114532|PMID:1511973|PMID:15153712|PMID:1515453|PMID:1515649|PMID:1517107|PMID:1517108|PMID:1517109|PMID:1517110|PMID:1517111|PMID:15181845|PMID:1520612|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15333505|PMID:15345105|PMID:1536956|PMID:15395398|PMID:1545796|PMID:15470211|PMID:15470216|PMID:15481884|PMID:15481885|PMID:15481886|PMID:15481891|PMID:15481893|PMID:15481896|PMID:1550780|PMID:15543018|PMID:15641237|PMID:15654898|PMID:15658184|PMID:15658190|PMID:15658193|PMID:15697092|PMID:15761692|PMID:15768552|PMID:15768557|PMID:1577489|PMID:1581247|PMID:1586746|PMID:15929117|PMID:15933066|PMID:15973412|PMID:15977037|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16114184|PMID:16114187|PMID:16114188|PMID:16126871|PMID:16175509|PMID:16178917|PMID:16199547|PMID:16225661|PMID:16266911|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634360|PMID:1634366|PMID:1634368|PMID:16370487|PMID:16370495|PMID:16421096|PMID:16466947|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1686262|PMID:1698102|PMID:16987798|PMID:16987801|PMID:17007829|PMID:17008283|PMID:1705411|PMID:1709134|PMID:17145605|PMID:1716997|PMID:1717406|PMID:1719807|PMID:17278112|PMID:1728311|PMID:17287491|PMID:1729892|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365003|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486497|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17598223|PMID:17606453|PMID:17654075|PMID:17655700|PMID:1769663|PMID:1772786|PMID:17768122|PMID:17774955|PMID:1777603|PMID:1787101|PMID:17900295|PMID:17932132|PMID:17949282|PMID:17994377|PMID:17994378 9057638 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:1814858|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18403562|PMID:18473247|PMID:18473248|PMID:18486569|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18591626|PMID:18603555|PMID:18619001|PMID:18654889|PMID:18694524|PMID:1873227|PMID:18759082|PMID:18793248|PMID:18818920|PMID:18829352|PMID:1891024|PMID:18932067|PMID:18932071|PMID:18954999|PMID:1897518|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:19125249|PMID:1917531|PMID:19205970|PMID:19205975|PMID:19254853|PMID:19290524|PMID:19372376|PMID:19429541|PMID:19437135|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19488752|PMID:19500561|PMID:1951306|PMID:1954392|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:1974422|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1986365|PMID:1986379|PMID:1995096|PMID:19958184|PMID:19958185|PMID:19958198|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20113284|PMID:20113289|PMID:20113295|PMID:20113296|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20230396|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20324533|PMID:20353352|PMID:20353353|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:2043469|PMID:20437613|PMID:20492708|PMID:20524821|PMID:20532507|PMID:20628988|PMID:20642337|PMID:2064964|PMID:2070092|PMID:20704537|PMID:2071159|PMID:20737602|PMID:20788973|PMID:2079434|PMID:2079437|PMID:20838957|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20942|PMID:20954261|PMID:20975770|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:2120891|PMID:21228398|PMID:2123063|PMID:21232998|PMID:21250876|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21333566|PMID:21353607|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21523319|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21733559|PMID:21797702|PMID:21797703|PMID:21801233|PMID:21845419|PMID:21879898|PMID:21892914|PMID:21931510|PMID:2197725|PMID:21978377|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22109911|PMID:22110956|PMID:22122796|PMID:2214342|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22233277|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22356097|PMID:22392582|PMID:2239966|PMID:22409273|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22675570|PMID:22690826|PMID:2272839|PMID:2272840|PMID:22734501|PMID:22734587|PMID:22737496|PMID:22738610|PMID:22738642|PMID:2283297|PMID:2283299|PMID:2283300|PMID:2283303|PMID:22851993|PMID:22875618|PMID:22896714|PMID:22898041|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:22981786|PMID:22983591|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:23106651|PMID:2310691|PMID:23129722|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23362932|PMID:23383304|PMID:23398055|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23525874|PMID:23586372|PMID:23590330|PMID:23590658|PMID:23591685|PMID:23606168|PMID:23637309|PMID:23651435|PMID:2366586|PMID:23665927|PMID:23729725|PMID:237566|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23812938|PMID:23859443|PMID:23878091|PMID:23889802|PMID:23915319|PMID:2393018|PMID:2393712|PMID:239952|PMID:2399911|PMID:24033266|PMID:24052702|PMID:24052746|PMID:24055728|PMID:24065537|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200101|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2440502 9057638 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:24450243|PMID:2446680|PMID:24493127|PMID:2456798|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24682197|PMID:24719849|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24828949|PMID:24857915|PMID:24878022|PMID:24880717|PMID:24957539|PMID:24986053|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:2525253|PMID:25268796|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:2542242|PMID:25469539|PMID:25471338|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25526804|PMID:25541274|PMID:25572182|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25657036|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25682598|PMID:25741868|PMID:25754248|PMID:25762031|PMID:2577233|PMID:2579336|PMID:25806420|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25905082|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26096710|PMID:26097845|PMID:26119666|PMID:26182339|PMID:26193974|PMID:26202972|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26402558|PMID:26410419|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26544676|PMID:26554253|PMID:26554738|PMID:26554862|PMID:26594346|PMID:26635043|PMID:2665856|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:2703367|PMID:2703368|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264516|PMID:27264598|PMID:27265760|PMID:2730955|PMID:27339814|PMID:27351925|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27492766|PMID:2752127|PMID:27521855|PMID:27521862|PMID:27535164|PMID:2753736|PMID:27651169|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27785405|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27848919|PMID:27884173|PMID:27979672|PMID:27981798|PMID:2804366|PMID:28125089|PMID:2816924|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28433609|PMID:284392|PMID:28460555|PMID:28475449|PMID:28492532|PMID:28503568|PMID:28603845|PMID:28635337|PMID:28643346|PMID:28667000|PMID:28670940|PMID:28670947|PMID:28671035|PMID:2867271|PMID:28680605|PMID:287080|PMID:2875755|PMID:28768465|PMID:28794124|PMID:28800727|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2901867|PMID:2903765|PMID:29076137|PMID:29082517|PMID:29157184|PMID:2915972|PMID:2917118|PMID:29171316|PMID:2917193|PMID:29182041|PMID:29188602|PMID:2920213|PMID:2920214|PMID:2921044|PMID:29240028|PMID:29251008|PMID:29295702|PMID:2930724|PMID:29313434|PMID:29319890|PMID:29365076|PMID:29379553|PMID:29403210|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:30047296|PMID:3006832|PMID:3014870|PMID:30173596|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:30422720|PMID:30423154|PMID:3048433|PMID:30489691|PMID:30501529|PMID:30604644|PMID:30626236|PMID:30626242|PMID:30809867|PMID:30843739|PMID:3108201|PMID:31096791|PMID:31106603|PMID:31108495|PMID:31130284|PMID:31134759|PMID:31139532|PMID:3114175|PMID:31145010|PMID:31146650|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:31304856|PMID:3130858|PMID:31394941|PMID:31395865 9057638 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:31397596|PMID:31456457|PMID:31476942|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31890591|PMID:31934147|PMID:32001505|PMID:32033288|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32142096|PMID:32190157|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:32672086|PMID:3267215|PMID:32674615|PMID:32722952|PMID:32860008|PMID:32885601|PMID:32925409|PMID:32986258|PMID:33000750|PMID:33091040|PMID:33092414|PMID:33092544|PMID:33116287|PMID:33179747|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33439495|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33734896|PMID:3382401|PMID:33829933|PMID:3384706|PMID:3384712|PMID:33851260|PMID:3387213|PMID:33966551|PMID:33971252|PMID:3403716|PMID:3408672|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34258108|PMID:34293487|PMID:34334128|PMID:34426522|PMID:3446652|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34659349|PMID:34690349|PMID:34749363|PMID:35023007|PMID:35119136|PMID:35336809|PMID:3557993|PMID:3557998|PMID:35615994|PMID:35979587|PMID:36073655|PMID:36184|PMID:3623977|PMID:36519257|PMID:3671081|PMID:3683554|PMID:3689700|PMID:3690667|PMID:3691763|PMID:37217151|PMID:3752087|PMID:3754244|PMID:3758492|PMID:3768534|PMID:3780671|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3838975|PMID:3839771|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3923770|PMID:3937827|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957694|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4101432|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4407364|PMID:4413625|PMID:4512457|PMID:4514958|PMID:4525423|PMID:457425|PMID:457426|PMID:4683875|PMID:4808644|PMID:4841979|PMID:49057|PMID:4942314|PMID:4981790|PMID:4991321|PMID:4994348|PMID:5022448|PMID:5050915|PMID:5059650|PMID:5079107|PMID:5097135|PMID:5129589|PMID:5283757|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5634912|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5713642|PMID:5722880|PMID:5773089|PMID:5785231|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5869485|PMID:5881530|PMID:5886928|PMID:5915974|PMID:5925329|PMID:5961314|PMID:5972415|PMID:598514|PMID:5996551|PMID:6016610|PMID:6019668|PMID:6021187|PMID:6029950|PMID:6033745|PMID:6034218|PMID:604313|PMID:6050213|PMID:6054484|PMID:6067323|PMID:6086605|PMID:6089938|PMID:6101206|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6251466|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6318797|PMID:6320218|PMID:6322284|PMID:640855|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6671904|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6745619|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7104238|PMID:711920|PMID:7137165|PMID:7141876|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204093|PMID:7204096|PMID:7204097|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7357091|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:750554|PMID:7507641|PMID:7522523|PMID:7530406|PMID:7558874|PMID:7558878|PMID:7558879|PMID:7599641|PMID:7615400|PMID:7632967|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7669681|PMID:7683931|PMID:7691242|PMID:7713749|PMID:7755625|PMID:7759073|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7852088|PMID:7852091|PMID:7860732|PMID:7864023|PMID:7899267|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7928376|PMID:7929232|PMID:7993409|PMID:8019567|PMID:8037185|PMID:8037197|PMID:8042613|PMID:808079|PMID:8081396|PMID:8091935|PMID:8094943|PMID:8095930 9057638 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:8111050|PMID:8112743|PMID:8144351|PMID:8144354|PMID:8144356|PMID:8144357|PMID:8144358|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8225319|PMID:8226093|PMID:8226099|PMID:8251381|PMID:8257991|PMID:826073|PMID:8262525|PMID:8270260|PMID:8318995|PMID:8330972|PMID:8330981|PMID:8338769|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8485062|PMID:8494004|PMID:8518184|PMID:8537236|PMID:8562944|PMID:8602996|PMID:8619407|PMID:8629112|PMID:8638609|PMID:8682512|PMID:8703815|PMID:8718699|PMID:8718703|PMID:8811316|PMID:8839873|PMID:8856098|PMID:88735|PMID:8874232|PMID:8889595|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8952150|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028819|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101282|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9353871|PMID:9371531|PMID:9371533|PMID:9401495|PMID:9415845|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9494047|PMID:9494052|PMID:9494053|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9625056|PMID:9629504|PMID:9653159|PMID:9730368|PMID:974261|PMID:9785927|PMID:9792288|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9846016|PMID:9859938|PMID:9875660|PMID:992050|PMID:993333|PMID:9949622|PMID:998617 9057638 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:10081986|PMID:10203101|PMID:10233364|PMID:10335984|PMID:10335988|PMID:10335989|PMID:10367791|PMID:10520021|PMID:1052173|PMID:1052174|PMID:10569722|PMID:10569730|PMID:10583251|PMID:10602954|PMID:10606872|PMID:10612821|PMID:10706767|PMID:10756381|PMID:10776695|PMID:10815781|PMID:10840054|PMID:10861818|PMID:10870880|PMID:10870887|PMID:10975446|PMID:10997336|PMID:11001883|PMID:11074564|PMID:1112610|PMID:11167851|PMID:11179419|PMID:11186258|PMID:11186262|PMID:11186264|PMID:11279660|PMID:11300343|PMID:11300348|PMID:11300351|PMID:11300352|PMID:11300355|PMID:11425418|PMID:11480785|PMID:1148394|PMID:11523095|PMID:11532628|PMID:11545326|PMID:11559932|PMID:11570721|PMID:1163074|PMID:1164567|PMID:11713529|PMID:11722417|PMID:11734002|PMID:1173714|PMID:11741197|PMID:11757720|PMID:1177278|PMID:11791873|PMID:11791874|PMID:11791878|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939506|PMID:11939508|PMID:11939510|PMID:11939511|PMID:11939518|PMID:11939519|PMID:11943067|PMID:12000828|PMID:1201208|PMID:12124399|PMID:12139763|PMID:12144055|PMID:12144056|PMID:12144057|PMID:12144059|PMID:12144064|PMID:12144066|PMID:12149194|PMID:12172041|PMID:12189174|PMID:12210807|PMID:12324499|PMID:12353305|PMID:12368169|PMID:12383672|PMID:12403488|PMID:12403491|PMID:12403498|PMID:12430907|PMID:1244906|PMID:12488606|PMID:12508270|PMID:12621249|PMID:12702481|PMID:12709369|PMID:1272328|PMID:12752111|PMID:12764548|PMID:12779270|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12885342|PMID:12908806|PMID:12955718|PMID:1301199|PMID:1301203|PMID:1301930|PMID:1301952|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716727|PMID:13716853|PMID:1374896|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13897827|PMID:1390250|PMID:13911805|PMID:1398296|PMID:14081243|PMID:14084634|PMID:14160125|PMID:14197371|PMID:14198723|PMID:1420507|PMID:1427786|PMID:14282052|PMID:1428943|PMID:1428944|PMID:1428946|PMID:1428947|PMID:14311973|PMID:14343445|PMID:14370233|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14649318|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:1487424|PMID:14973|PMID:15000665|PMID:15008262|PMID:15008267|PMID:15009072|PMID:15065210|PMID:15108284|PMID:15114532|PMID:1511973|PMID:15153712|PMID:1515453|PMID:1515649|PMID:1517107|PMID:1517108|PMID:1517109|PMID:1517110|PMID:1517111|PMID:15181845|PMID:1520612|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15333505|PMID:15345105|PMID:1536956|PMID:15395398|PMID:1545796|PMID:15470211|PMID:15470216|PMID:15481884|PMID:15481885|PMID:15481886|PMID:15481891|PMID:15481893|PMID:15481896|PMID:1550780|PMID:15543018|PMID:15641237|PMID:15654898|PMID:15658184|PMID:15658190|PMID:15658193|PMID:15697092|PMID:15761692|PMID:15768552|PMID:15768557|PMID:1577489|PMID:1581247|PMID:1586746|PMID:15929117|PMID:15933066|PMID:15973412|PMID:15977037|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16114184|PMID:16114187|PMID:16114188|PMID:16126871|PMID:16175509|PMID:16178917|PMID:16199547|PMID:16225661|PMID:16266911|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634360|PMID:1634366|PMID:1634368|PMID:16370487|PMID:16370495|PMID:16421096|PMID:16466947|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1686262|PMID:1698102|PMID:16987798|PMID:16987801|PMID:17007829|PMID:17008283|PMID:1705411|PMID:1709134|PMID:17145605|PMID:1716997|PMID:1717406|PMID:1719807|PMID:17278112|PMID:1728311|PMID:17287491|PMID:1729892|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365003|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486497|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17598223|PMID:17606453|PMID:17654075|PMID:17655700|PMID:1769663|PMID:1772786|PMID:17768122|PMID:17774955|PMID:1777603|PMID:1787101|PMID:17900295|PMID:17932132|PMID:17949282 9057638 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:17994377|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:1814858|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18403562|PMID:18473247|PMID:18473248|PMID:18486569|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18591626|PMID:18603555|PMID:18619001|PMID:18654889|PMID:18694524|PMID:1873227|PMID:18759082|PMID:18793248|PMID:18818920|PMID:18829352|PMID:1891024|PMID:18932067|PMID:18932071|PMID:18954999|PMID:1897518|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:19125249|PMID:1917531|PMID:19205970|PMID:19205975|PMID:19254853|PMID:19290524|PMID:19372376|PMID:19429541|PMID:19437135|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19488752|PMID:19500561|PMID:1951306|PMID:1954392|PMID:1958498|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:1974422|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1986365|PMID:1986379|PMID:1995096|PMID:19958184|PMID:19958185|PMID:19958198|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20113284|PMID:20113289|PMID:20113295|PMID:20113296|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20230396|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20324533|PMID:20353352|PMID:20353353|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:2043469|PMID:20437613|PMID:20492708|PMID:20524821|PMID:20532507|PMID:20628988|PMID:20642336|PMID:20642337|PMID:2064964|PMID:2070092|PMID:20704537|PMID:2071159|PMID:20737602|PMID:20788973|PMID:2079434|PMID:2079437|PMID:20838957|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20942|PMID:20954261|PMID:20975770|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:2120891|PMID:21228398|PMID:2123063|PMID:21232998|PMID:21250876|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21333566|PMID:21353607|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21523319|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21733559|PMID:21797702|PMID:21797703|PMID:21801233|PMID:21845419|PMID:21879898|PMID:21892914|PMID:21931510|PMID:2197725|PMID:21978377|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22109911|PMID:22110956|PMID:22122796|PMID:2214342|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22233277|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22356097|PMID:22392582|PMID:2239966|PMID:22409273|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22675570|PMID:22690826|PMID:2272839|PMID:2272840|PMID:22734501|PMID:22734587|PMID:22737496|PMID:22738610|PMID:22738642|PMID:2283297|PMID:2283299|PMID:2283300|PMID:2283303|PMID:22851993|PMID:22875618|PMID:22896714|PMID:22898041|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:22981786|PMID:22983591|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:23106651|PMID:2310691|PMID:23129722|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23362932|PMID:23383304|PMID:23398055|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23525874|PMID:23586372|PMID:23590330|PMID:23590658|PMID:23591685|PMID:23606168|PMID:23637309|PMID:23651435|PMID:2366586|PMID:23665927|PMID:23729725|PMID:237566|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23812938|PMID:23859443|PMID:23878091|PMID:23889802|PMID:23915319|PMID:2393018|PMID:2393712|PMID:239952|PMID:2399911|PMID:24033266|PMID:24052702|PMID:24052746|PMID:24055728|PMID:24065537|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200101|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358 9057638 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:24385794|PMID:2439149|PMID:24401016|PMID:2440502|PMID:24450243|PMID:2446680|PMID:24493127|PMID:2456798|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24682197|PMID:24719849|PMID:24744638|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24828949|PMID:24857915|PMID:24878022|PMID:24880717|PMID:24957539|PMID:24986053|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:2525253|PMID:25268796|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:2542242|PMID:25469539|PMID:25471338|PMID:25480500|PMID:25488433|PMID:25523871|PMID:25525159|PMID:25525381|PMID:25526804|PMID:25541274|PMID:25572182|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25657036|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25682598|PMID:25741868|PMID:25741895|PMID:25754248|PMID:25762031|PMID:2577233|PMID:2579336|PMID:25806420|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25905082|PMID:25910213|PMID:25976460|PMID:2599884|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26096710|PMID:26097845|PMID:26119666|PMID:26182339|PMID:26193974|PMID:26202972|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26291972|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26402558|PMID:26410419|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26544676|PMID:26554253|PMID:26554738|PMID:26554862|PMID:26594346|PMID:26635043|PMID:2665856|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:2703367|PMID:2703368|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264516|PMID:27264598|PMID:27265760|PMID:2730955|PMID:27351925|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27492766|PMID:2752127|PMID:27521855|PMID:27521862|PMID:27535164|PMID:2753736|PMID:27651169|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27785405|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27848919|PMID:27884173|PMID:27979672|PMID:2804366|PMID:28125089|PMID:2816924|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28433609|PMID:284392|PMID:28460555|PMID:28475449|PMID:28492532|PMID:28503568|PMID:28603845|PMID:28635337|PMID:28643346|PMID:28667000|PMID:28670940|PMID:28670947|PMID:28671035|PMID:2867271|PMID:28680605|PMID:287080|PMID:2875755|PMID:28768465|PMID:28794124|PMID:28800727|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2901867|PMID:2903765|PMID:29076137|PMID:29082517|PMID:29157184|PMID:2915972|PMID:2917118|PMID:29171316|PMID:2917193|PMID:29182041|PMID:29188602|PMID:2920213|PMID:2920214|PMID:2921044|PMID:29240028|PMID:29251008|PMID:29295702|PMID:2930724|PMID:29313434|PMID:29319890|PMID:29365076|PMID:29379553|PMID:29403210|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:30047296|PMID:3006832|PMID:3014870|PMID:30173596|PMID:30205726|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:30422720|PMID:30423154|PMID:3048433|PMID:30489691|PMID:30501529|PMID:30604644|PMID:30626236|PMID:30626242|PMID:30809867|PMID:30820323|PMID:30843739|PMID:3108201|PMID:31096791|PMID:31106603|PMID:31108495|PMID:31126755|PMID:31130284|PMID:31134759|PMID:31139532|PMID:3114175|PMID:31145010 9057638 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:31146650|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:31286593|PMID:31304856|PMID:3130858|PMID:31394941|PMID:31395865|PMID:31397596|PMID:31456457|PMID:31476942|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31890591|PMID:31934147|PMID:31973650|PMID:32001505|PMID:32033288|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32142096|PMID:32190157|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:32672086|PMID:3267215|PMID:32674615|PMID:32722952|PMID:32860008|PMID:32885601|PMID:32925409|PMID:32986258|PMID:33000750|PMID:33091040|PMID:33092414|PMID:33092544|PMID:33116287|PMID:33179747|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33439495|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33734896|PMID:3382401|PMID:33829933|PMID:3384706|PMID:3384712|PMID:33851260|PMID:33867742|PMID:3387213|PMID:33947296|PMID:33966551|PMID:33971252|PMID:3403716|PMID:3408672|PMID:34092029|PMID:34100337|PMID:3417300|PMID:3422218|PMID:34233561|PMID:34258108|PMID:34293487|PMID:34334128|PMID:34362515|PMID:34426522|PMID:3446652|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34659349|PMID:34690349|PMID:34749363|PMID:34915846|PMID:35023007|PMID:35052472|PMID:35119136|PMID:35336809|PMID:3557993|PMID:3557998|PMID:35615994|PMID:35705926|PMID:35979587|PMID:35982159|PMID:35982160|PMID:36073655|PMID:36184|PMID:3623977|PMID:36519257|PMID:3671081|PMID:3683554|PMID:3689700|PMID:3690667|PMID:3691763|PMID:37217151|PMID:3752087|PMID:3754244|PMID:3758492|PMID:3768534|PMID:3780671|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3838975|PMID:3839771|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3923770|PMID:393|PMID:3937827|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957694|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4101432|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4407364|PMID:4413625|PMID:4512457|PMID:4514958|PMID:4525423|PMID:457425|PMID:457426|PMID:4683875|PMID:4808644|PMID:4808645|PMID:4841979|PMID:49057|PMID:4942314|PMID:4981790|PMID:4991321|PMID:4994348|PMID:5022448|PMID:5050915|PMID:5059650|PMID:5079107|PMID:5097135|PMID:5129589|PMID:5283757|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5634912|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5713642|PMID:5722880|PMID:5773089|PMID:5785231|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5869485|PMID:5881530|PMID:5886928|PMID:5915974|PMID:5925329|PMID:5961314|PMID:5972415|PMID:598514|PMID:5996551|PMID:6016610|PMID:6019668|PMID:6021187|PMID:6029950|PMID:6033745|PMID:6034218|PMID:604313|PMID:6050213|PMID:6054484|PMID:6067323|PMID:6086605|PMID:6089938|PMID:6101206|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6251466|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6318797|PMID:6320218|PMID:6322284|PMID:640855|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6671904|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6745619|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6863429|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7104238|PMID:711920|PMID:7137165|PMID:7141876|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204093|PMID:7204096|PMID:7204097|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7357091|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:750554|PMID:7507641|PMID:7522523|PMID:7530406|PMID:7558874|PMID:7558878|PMID:7558879|PMID:7599641|PMID:7615400|PMID:7632967|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7669681|PMID:7683931|PMID:7691242 9057638 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia ISO RGD:736606 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia PMID:7713749|PMID:7755625|PMID:7759073|PMID:7786794|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7852088|PMID:7852091|PMID:7860732|PMID:7864023|PMID:7899267|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7928376|PMID:7929232|PMID:7993409|PMID:8019567|PMID:8037185|PMID:8037197|PMID:8042613|PMID:808079|PMID:8081396|PMID:8091935|PMID:8094943|PMID:8095930|PMID:8111050|PMID:8112743|PMID:8144351|PMID:8144354|PMID:8144356|PMID:8144357|PMID:8144358|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8225319|PMID:8226093|PMID:8226099|PMID:8251381|PMID:8257991|PMID:826073|PMID:8262525|PMID:8270260|PMID:8318995|PMID:8330972|PMID:8330981|PMID:8338769|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8485062|PMID:8494004|PMID:8518184|PMID:8535446|PMID:8537236|PMID:8562944|PMID:8602996|PMID:8619407|PMID:8629112|PMID:8638609|PMID:8682512|PMID:8703815|PMID:8718699|PMID:8718703|PMID:8811316|PMID:8839873|PMID:8856098|PMID:88735|PMID:8874232|PMID:8889595|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8952150|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028819|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101282|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9353871|PMID:9371531|PMID:9371533|PMID:9401495|PMID:9415845|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9494047|PMID:9494052|PMID:9494053|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9625056|PMID:9629504|PMID:9653159|PMID:9730368|PMID:974261|PMID:9785927|PMID:9792288|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9846016|PMID:9859938|PMID:9875660|PMID:992050|PMID:993333|PMID:9949622|PMID:998617 9057638 Hbb hemoglobin subunit beta gene DOID:12241 beta thalassemia treatment ISO RGD:736606 D RGD:9068941 20200609 RGD PMID:16631345|REF_RGD_ID:11353868 9057638 Hbb hemoglobin subunit beta gene DOID:12365 malaria ISO RGD:736606 D RGD:7240710 20230505 OMIM 9057638 Hbb hemoglobin subunit beta gene DOID:12365 malaria ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11791873|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12368169|PMID:12383672|PMID:12403498|PMID:12702481|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:1390250|PMID:14084634|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20642336|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:23859443|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599884|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27453201|PMID:27690257|PMID:27756326|PMID:27821015|PMID:27823958 9057638 Hbb hemoglobin subunit beta gene DOID:12365 malaria ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to PMID:27828729|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:2920213|PMID:29295702|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30046479|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31190580|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33829933|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35052472|PMID:35982159|PMID:35982160|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4232783|PMID:4351905|PMID:4683875|PMID:49057|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 9057638 Hbb hemoglobin subunit beta gene DOID:12365 malaria resistance ISO RGD:736606 D RGD:9068941 20200609 RGD Hemoglobin C; DNA:polymorphism:CDS:69G>A, amino acid E6K PMID:11001883|REF_RGD_ID:1600894 9057638 Hbb hemoglobin subunit beta gene DOID:14067 Plasmodium falciparum malaria ISO RGD:736606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20305663 9057638 Hbb hemoglobin subunit beta gene DOID:14330 Parkinson's disease ISO RGD:736606 D RGD:9068941 20200609 RGD protein:decreased expression:brain, mitochondrion PMID:24333691|REF_RGD_ID:10449046 9057638 Hbb hemoglobin subunit beta gene DOID:1496 echinococcosis ISO RGD:736606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24270252 9057638 Hbb hemoglobin subunit beta gene DOID:1584 acute chest syndrome ISO RGD:736606 D RGD:9068941 20200609 RGD DNA:SNPs, haplotypes PMID:23952145|REF_RGD_ID:10449047 9057638 Hbb hemoglobin subunit beta gene DOID:2355 anemia ISO RGD:736606 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Anemia PMID:10602954|PMID:11425418|PMID:11545326|PMID:11741197|PMID:11830454|PMID:11880644|PMID:12124399|PMID:12149194|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1347969|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13892631|PMID:14084634|PMID:14133899|PMID:14734204|PMID:15114532|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15658184|PMID:16001361|PMID:16114182|PMID:16750922|PMID:1693293|PMID:17278112|PMID:17287491|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18568278|PMID:19061217|PMID:19440680|PMID:19465909|PMID:1960615|PMID:19758965|PMID:19841268|PMID:1986365|PMID:19958185|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20492708|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:21529713|PMID:21732929|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22244832|PMID:22260787|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23729725|PMID:24033266|PMID:24123366|PMID:24368026|PMID:2442092|PMID:24493127|PMID:24581976|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25370867|PMID:25741868|PMID:2579336|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:26554862|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28492532|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:30002798|PMID:30033078|PMID:3031297|PMID:30315176|PMID:3048433|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:3354556|PMID:34334128|PMID:34749363|PMID:36073655|PMID:3690667|PMID:3752087|PMID:3821796|PMID:4232783|PMID:4351905|PMID:4625560|PMID:49057|PMID:5658717|PMID:5660684|PMID:5863839|PMID:5964983|PMID:6166632|PMID:6198908|PMID:6268660|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6583683|PMID:6584911|PMID:6859036|PMID:700140|PMID:7177196|PMID:7384810|PMID:7395858|PMID:7993409|PMID:81926|PMID:8199597|PMID:8462981|PMID:8839873|PMID:893136|PMID:909565|PMID:9653159|PMID:9859938 9057638 Hbb hemoglobin subunit beta gene DOID:2859 hemoglobin C disease ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN C PMID:11001883|PMID:11713529|PMID:12818227|PMID:13108995|PMID:13115700|PMID:13618691|PMID:13685866|PMID:14405428|PMID:14492555|PMID:14613965|PMID:14808148|PMID:15000665|PMID:15973412|PMID:16175509|PMID:1680789|PMID:17774955|PMID:18048408|PMID:19061217|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20305663|PMID:22075726|PMID:2239966|PMID:23297836|PMID:23591685|PMID:2412200|PMID:25488433|PMID:25741868|PMID:26372199|PMID:26661037|PMID:27117572|PMID:28251416|PMID:28492532|PMID:2888754|PMID:30604644|PMID:33091040|PMID:33116287|PMID:7137165|PMID:7229029|PMID:8201467|PMID:9556665 9057638 Hbb hemoglobin subunit beta gene DOID:2860 hemoglobinopathy ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy PMID:1002699|PMID:10081984|PMID:10490144|PMID:10770934|PMID:10804732|PMID:10815781|PMID:10840054|PMID:10975438|PMID:11074564|PMID:11167851|PMID:1117598|PMID:1138885|PMID:11532628|PMID:1158862|PMID:1164510|PMID:11722417|PMID:11791873|PMID:11843890|PMID:11857746|PMID:1201208|PMID:1225575|PMID:12368169|PMID:12403498|PMID:1244915|PMID:12621249|PMID:12709369|PMID:12752111|PMID:12779277|PMID:12955718|PMID:1384315|PMID:13911808|PMID:14197371|PMID:14198723|PMID:14597|PMID:1463768|PMID:14686490|PMID:14734204|PMID:15008262|PMID:15108284|PMID:1520612|PMID:15315794|PMID:1536956|PMID:15653458|PMID:15658193|PMID:15727901|PMID:15761692|PMID:15768557|PMID:15921161|PMID:16282896|PMID:1634360|PMID:16466947|PMID:16732578|PMID:1686262|PMID:16987801|PMID:17007829|PMID:17008283|PMID:1717406|PMID:17606453|PMID:1769663|PMID:1787097|PMID:17932132|PMID:17949282|PMID:17994378|PMID:18096416|PMID:18173741|PMID:18294253|PMID:18339318|PMID:18498386|PMID:1850955|PMID:1856830|PMID:18654884|PMID:18654889|PMID:1873227|PMID:18793248|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19205970|PMID:19254853|PMID:19429541|PMID:19460936|PMID:19486366|PMID:1951318|PMID:1954392|PMID:19734427|PMID:1974422|PMID:1986379|PMID:2014803|PMID:20301599|PMID:20309827|PMID:20353352|PMID:20353353|PMID:20395516|PMID:20437613|PMID:2064964|PMID:20704537|PMID:20838957|PMID:20942|PMID:2105568|PMID:21119755|PMID:21232998|PMID:21389146|PMID:21423179|PMID:21523319|PMID:21599435|PMID:21797703|PMID:2197725|PMID:22074124|PMID:22145566|PMID:22180324|PMID:22239493|PMID:22392582|PMID:22675570|PMID:2283301|PMID:2291577|PMID:22975760|PMID:2298920|PMID:22995479|PMID:23321370|PMID:23383304|PMID:23491071|PMID:23510507|PMID:23525874|PMID:23590330|PMID:23637309|PMID:2375910|PMID:2384310|PMID:23859443|PMID:239863|PMID:239943|PMID:2399911|PMID:24099628|PMID:24200101|PMID:24265529|PMID:2458145|PMID:2467892|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25087612|PMID:25089872|PMID:25130136|PMID:25135424|PMID:25332589|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25677748|PMID:25707679|PMID:25741868|PMID:25741895|PMID:25905082|PMID:25976460|PMID:2599881|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26372288|PMID:26418075|PMID:26467025|PMID:26522187|PMID:26544676|PMID:26594346|PMID:26635043|PMID:26790389|PMID:26948378|PMID:26956563|PMID:27032675|PMID:2703367|PMID:2703368|PMID:27117567|PMID:27207683|PMID:27263053|PMID:27264516|PMID:2752127|PMID:2753736|PMID:2757008|PMID:27651169|PMID:27670359|PMID:27756326|PMID:27765567|PMID:27828729|PMID:28125089|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28603845|PMID:28670940|PMID:28671035|PMID:2901867|PMID:29295702|PMID:29790589|PMID:30046479|PMID:3006832|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30423154|PMID:30489691|PMID:31134759|PMID:3114175|PMID:31190580|PMID:31240559|PMID:31304856|PMID:31395865|PMID:31553106|PMID:31589614|PMID:31714438|PMID:32190157|PMID:32411010|PMID:32412692|PMID:32925409|PMID:32986258|PMID:33287582|PMID:33489049|PMID:33602051|PMID:33829933|PMID:3384709|PMID:3391614|PMID:33971252|PMID:3403716|PMID:34272389|PMID:3462712|PMID:35336809|PMID:3557994|PMID:3557996|PMID:3583764|PMID:3588028|PMID:35898763|PMID:3756101|PMID:3768534|PMID:3942130|PMID:3955238|PMID:3957694|PMID:4101432|PMID:4514958|PMID:457426|PMID:4685078|PMID:4808644|PMID:4808645|PMID:4942314|PMID:4999133|PMID:5031790|PMID:5056652|PMID:5059650|PMID:5079107|PMID:5577462|PMID:5684629|PMID:5750181|PMID:5782115|PMID:5791730|PMID:5856115|PMID:5881530|PMID:5919752|PMID:598514|PMID:6029950|PMID:6038175|PMID:604313|PMID:6050213|PMID:6054966|PMID:6067323|PMID:6086605|PMID:6249934|PMID:6469698|PMID:6526653|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6668191|PMID:6714226|PMID:6733281|PMID:6863429|PMID:6874374|PMID:6879181|PMID:6998928|PMID:7104238|PMID:7158624|PMID:7173395|PMID:7204093|PMID:7353889|PMID:7390864|PMID:7407240|PMID:747178|PMID:7510147|PMID:7530406|PMID:7558878|PMID:7558879|PMID:7615400|PMID:7693620|PMID:7786794|PMID:7852087|PMID:7852088|PMID:7860732 9057638 Hbb hemoglobin subunit beta gene DOID:2860 hemoglobinopathy ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy PMID:7864023|PMID:7928379|PMID:8112743|PMID:8114|PMID:8144354|PMID:8225319|PMID:8226093|PMID:8226094|PMID:8330980|PMID:8435318|PMID:8522332|PMID:8619407|PMID:8638609|PMID:8701949|PMID:8718703|PMID:8824225|PMID:88735|PMID:891976|PMID:9028819|PMID:9101280|PMID:9101288|PMID:9140720|PMID:9163586|PMID:9223924|PMID:9340427|PMID:9371533|PMID:9401495|PMID:9415845|PMID:9494047|PMID:9495372|PMID:9625056|PMID:9846016|PMID:9859935 9057638 Hbb hemoglobin subunit beta gene DOID:2860 hemoglobinopathy severity ISO RGD:736606 D RGD:9068941 20200609 RGD PMID:24930900|REF_RGD_ID:10449038 9057638 Hbb hemoglobin subunit beta gene DOID:2861 congenital nonspherocytic hemolytic anemia ISO RGD:736606 D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU PMID:8280608 9057638 Hbb hemoglobin subunit beta gene DOID:5378 hemoglobin D disease ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: Hemoglobin D disease PMID:1177278|PMID:12403491|PMID:1244906|PMID:12709369|PMID:13590135|PMID:13872094|PMID:14160125|PMID:16370495|PMID:16540414|PMID:19958184|PMID:20110664|PMID:20301551|PMID:20437613|PMID:2079437|PMID:21194265|PMID:22028795|PMID:22975760|PMID:2307460|PMID:24123366|PMID:24245819|PMID:24616059|PMID:24814631|PMID:25087612|PMID:25666204|PMID:25741868|PMID:25818823|PMID:26467025|PMID:28492532|PMID:2887538|PMID:2895770|PMID:30626242|PMID:31553106|PMID:31973650|PMID:33867742|PMID:3557993|PMID:3557998|PMID:3838975|PMID:4078867|PMID:4991321|PMID:5050915|PMID:5672850|PMID:6322284|PMID:7338475|PMID:750553|PMID:8095930|PMID:9140717 9057638 Hbb hemoglobin subunit beta gene DOID:5379 hemoglobin E disease ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hemoglobin E disease PMID:11425418|PMID:12149194|PMID:12850492|PMID:13716853|PMID:14734204|PMID:15114532|PMID:15470211|PMID:15481886|PMID:16114182|PMID:16750922|PMID:17278112|PMID:18024613|PMID:18568278|PMID:19440680|PMID:1960615|PMID:19841268|PMID:20301599|PMID:20492708|PMID:21732929|PMID:22028795|PMID:22260787|PMID:24368026|PMID:24581976|PMID:25370867|PMID:25741868|PMID:26554862|PMID:28492532|PMID:3031297|PMID:4351905|PMID:5658717|PMID:5863839|PMID:6166632|PMID:6198908|PMID:6275383|PMID:6280057|PMID:6859036|PMID:700140|PMID:7177196|PMID:7395858|PMID:8839873|PMID:893136|PMID:9653159 9057638 Hbb hemoglobin subunit beta gene DOID:583 hemolytic anemia ISO RGD:736606 D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN HYOGO | ClinVar Annotator: match by term: HEMOGLOBIN MANHATTAN | ClinVar Annotator: match by term: HEMOGLOBIN MIZUHO | ClinVar Annotator: match by term: HEMOGLOBIN NIJKERK | ClinVar Annotator: match by term: HEMOGLOBIN OLMSTED | ClinVar Annotator: match by term: HEMOGLOBIN PERTH | ClinVar Annotator: match by term: HEMOGLOBIN SABINE | ClinVar Annotator: match by term: HEMOGLOBIN VOLGA | ClinVar Annotator: match by term: Hemoglobin Zurich | ClinVar Annotator: match by term: Hemolytic anemia PMID:10335981|PMID:10804732|PMID:1138885|PMID:13716725|PMID:13726693|PMID:13895148|PMID:14314237|PMID:15653458|PMID:1726094|PMID:18654884|PMID:19429541|PMID:2105568|PMID:2363414|PMID:2384314|PMID:24055728|PMID:24904938|PMID:25741868|PMID:26467025|PMID:26635043|PMID:2705488|PMID:27686852|PMID:3014870|PMID:3138875|PMID:3240605|PMID:3395624|PMID:3781864|PMID:4127713|PMID:42311|PMID:4352462|PMID:439565|PMID:4685078|PMID:5096522|PMID:5133275|PMID:5492847|PMID:5780360|PMID:6054966|PMID:6153383|PMID:6310991|PMID:6578506|PMID:6668191|PMID:6849326|PMID:6859031|PMID:6998928|PMID:7353889|PMID:7384813|PMID:7419425|PMID:7558877|PMID:7852089|PMID:8330973|PMID:8579053|PMID:893142|PMID:952960|PMID:9629500|PMID:9859934 9057638 Hbb hemoglobin subunit beta gene DOID:589 congenital hemolytic anemia ISO RGD:736606 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY | ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA | ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW PMID:16790675|PMID:24200101|PMID:25741868|PMID:26467025|PMID:34528613|PMID:3839771|PMID:5713642|PMID:6815132|PMID:6877904|PMID:7852083|PMID:9798654 9057638 Hbb hemoglobin subunit beta gene DOID:630 genetic disease ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10602954|PMID:10815781|PMID:11001883|PMID:11425418|PMID:11545326|PMID:1163074|PMID:11713529|PMID:11741197|PMID:11791873|PMID:11791878|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144064|PMID:12149194|PMID:12368169|PMID:12383672|PMID:12403498|PMID:12702481|PMID:12779277|PMID:12818227|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716853|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13897827|PMID:1390250|PMID:13911805|PMID:14084634|PMID:14282052|PMID:1428947|PMID:14343445|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:15000665|PMID:15114532|PMID:15181845|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15658184|PMID:15697092|PMID:15929117|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:1634366|PMID:16421096|PMID:16470532|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:17278112|PMID:17287491|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17576681|PMID:17655700|PMID:1769663|PMID:17774955|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18081706|PMID:18105244|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18954999|PMID:19000664|PMID:19061217|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:1960615|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:19958185|PMID:2004023|PMID:20132300|PMID:2014803|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20324533|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:2064964|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21228398|PMID:2123063|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22145566|PMID:22188014|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23431002|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:24033266|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24744675|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25130136|PMID:25135424|PMID:25244406|PMID:25370867|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25572186|PMID:25741868|PMID:2579336|PMID:25806420|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26041415|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26097845|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27032675|PMID:2703363|PMID:27117567|PMID:27117572|PMID:27199182|PMID:27207683|PMID:27254408|PMID:27263053|PMID:27264598|PMID:27427187|PMID:27690257|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27828729|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:29295702|PMID:29464999|PMID:29484903|PMID:29695942|PMID:30002798|PMID:30033078|PMID:30046479|PMID:3021607|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:31106603|PMID:31130284|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31456457|PMID:31553106|PMID:31714438 9057638 Hbb hemoglobin subunit beta gene DOID:630 genetic disease ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:32039214|PMID:32190157|PMID:32412692|PMID:32414341|PMID:32527859|PMID:3267215|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33287582|PMID:3354556|PMID:33602051|PMID:33829933|PMID:34334128|PMID:3457470|PMID:3462712|PMID:34749363|PMID:34915846|PMID:35023007|PMID:36073655|PMID:3690667|PMID:3752087|PMID:3799593|PMID:3821796|PMID:4086306|PMID:4232783|PMID:429843|PMID:4351905|PMID:4413625|PMID:4841979|PMID:49057|PMID:5658717|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5996551|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6308558|PMID:6320218|PMID:6457059|PMID:6500990|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6714226|PMID:6733281|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7137165|PMID:7177196|PMID:721614|PMID:7229029|PMID:7312624|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7663000|PMID:7668219|PMID:7713749|PMID:7755625|PMID:7929232|PMID:7993409|PMID:808079|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8330981|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8518184|PMID:8619407|PMID:8839873|PMID:893136|PMID:909565|PMID:9113933|PMID:9160698|PMID:9163586|PMID:932531|PMID:9401495|PMID:9450794|PMID:9536098|PMID:9556665|PMID:9653159|PMID:9830011|PMID:9845707|PMID:9859938 9057638 Hbb hemoglobin subunit beta gene DOID:8432 polycythemia ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Erythrocytosis | ClinVar Annotator: match by term: HEMOGLOBIN PUTTELANGE | ClinVar Annotator: match by term: HEMOGLOBIN SAN DIEGO | ClinVar Annotator: match by term: HEMOGLOBIN SHERWOOD FOREST | ClinVar Annotator: match by term: HEMOGLOBIN SOUTH MILWAUKEE | ClinVar Annotator: match by term: HEMOGLOBIN TAK PMID:10846826|PMID:11167851|PMID:1201208|PMID:12621249|PMID:15768557|PMID:15921161|PMID:18793248|PMID:18818920|PMID:19429541|PMID:19460936|PMID:20353352|PMID:20353353|PMID:20395516|PMID:20838957|PMID:22145566|PMID:2363414|PMID:23859443|PMID:24200101|PMID:25741868|PMID:26467025|PMID:26544676|PMID:2703368|PMID:27651169|PMID:28492532|PMID:29790589|PMID:30423154|PMID:31304856|PMID:32925409|PMID:3957694|PMID:4101432|PMID:4808644|PMID:4808645|PMID:590504|PMID:604313|PMID:6863429|PMID:7204093|PMID:7295777|PMID:7417488|PMID:7615400|PMID:7918091|PMID:8144354|PMID:8522332|PMID:9494047 9057638 Hbb hemoglobin subunit beta gene DOID:8997 polycythemia vera ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN VILLEJUIF PMID:11300351|PMID:19429541|PMID:26467025|PMID:2816924|PMID:31553106 9057638 Hbb hemoglobin subunit beta gene DOID:9000582 Reticulocytosis ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN LAS PALMAS PMID:22718637|PMID:26467025|PMID:3384708 9057638 Hbb hemoglobin subunit beta gene DOID:9000781 Cyanosis ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN DENVER PMID:19429541|PMID:8133661 9057638 Hbb hemoglobin subunit beta gene DOID:9000792 Methemoglobinemia, Beta-Globin Type ISO RGD:736606 D RGD:7240710 20180130 OMIM 9057638 Hbb hemoglobin subunit beta gene DOID:9000792 Methemoglobinemia, Beta-Globin Type ISO RGD:736606 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE | ClinVar Annotator: match by term: Methemoglobinemia, beta-globin type PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11791873|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12368169|PMID:12383672|PMID:12403498|PMID:12702481|PMID:12764548|PMID:12779277|PMID:1278400|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13665153|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13897827|PMID:1390250|PMID:1398295|PMID:14084634|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20628988|PMID:20642336|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23729725|PMID:23859443|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599884|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27453201 9057638 Hbb hemoglobin subunit beta gene DOID:9000792 Methemoglobinemia, Beta-Globin Type ISO RGD:736606 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE | ClinVar Annotator: match by term: Methemoglobinemia, beta-globin type PMID:27690257|PMID:27756326|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:2920213|PMID:29295702|PMID:29319890|PMID:29484903|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30046479|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:31190580|PMID:31267164|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32747614|PMID:32860008|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33251782|PMID:33491330|PMID:3354556|PMID:33602051|PMID:3377987|PMID:33829933|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35052472|PMID:35982159|PMID:35982160|PMID:36073655|PMID:3623977|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3838975|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4232783|PMID:4311041|PMID:4351905|PMID:4683875|PMID:49057|PMID:5285571|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5669922|PMID:5863839|PMID:5900783|PMID:5915974|PMID:6019668|PMID:604314|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6304979|PMID:6309649|PMID:6310991|PMID:6311728|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6695908|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7137165|PMID:7151176|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226097|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9225979|PMID:933112|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9494043|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622 9057638 Hbb hemoglobin subunit beta gene DOID:9001341 Chloracne ISO RGD:736606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17101203 9057638 Hbb hemoglobin subunit beta gene DOID:9002652 Alpha-Thalassemia 2 ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO PMID:10335985 9057638 Hbb hemoglobin subunit beta gene DOID:9002720 Splenomegaly ISO RGD:736606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29255069 9057638 Hbb hemoglobin subunit beta gene DOID:9002720 Splenomegaly ISO RGD:736606 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:329C>G, amino acid H92Q PMID:10870887|REF_RGD_ID:1600896 9057638 Hbb hemoglobin subunit beta gene DOID:9003104 Intracranial Hemorrhages ISO RGD:2783 D RGD:9068941 20200609 RGD mRNA:increased expression:basal ganglion, neuron, glial cell PMID:21725744|REF_RGD_ID:10449050 9057638 Hbb hemoglobin subunit beta gene DOID:9004898 Jaundice ISO RGD:736606 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:329C>G, amino acid H92Q PMID:10870887|REF_RGD_ID:1600896 9057638 Hbb hemoglobin subunit beta gene DOID:9005828 Sickle Cell Trait ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN D (IBADAN) PMID:11757720|PMID:12144055|PMID:14311973|PMID:1891024|PMID:19429541|PMID:26119666|PMID:26467025|PMID:26635043|PMID:27207683|PMID:27521855|PMID:284392|PMID:29365076|PMID:30604644|PMID:5097135|PMID:5481775|PMID:6859036|PMID:974261 9057638 Hbb hemoglobin subunit beta gene DOID:9006205 Animal Disease Models ISO RGD:736606 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23975182|PMID:29255069 9057638 Hbb hemoglobin subunit beta gene DOID:9006672 Hemoglobin SC Disease ISO RGD:736606 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease PMID:10602954|PMID:11001883|PMID:11545326|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11880644|PMID:12124399|PMID:12818227|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13618691|PMID:13685866|PMID:1376298|PMID:13852872|PMID:14084634|PMID:14405428|PMID:14492555|PMID:14613965|PMID:14808148|PMID:15000665|PMID:15395398|PMID:15543018|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16175509|PMID:1680789|PMID:17287491|PMID:17774955|PMID:1802884|PMID:18048408|PMID:18192399|PMID:19061217|PMID:19465909|PMID:19758965|PMID:1986365|PMID:19958185|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20305663|PMID:20492708|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:21529713|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22244832|PMID:2239966|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23297836|PMID:23591685|PMID:23729725|PMID:24033266|PMID:2412200|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25488433|PMID:25741868|PMID:2579336|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:26661037|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28251416|PMID:28356267|PMID:28492532|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:30002798|PMID:30033078|PMID:30315176|PMID:3048433|PMID:30604644|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33091040|PMID:33116287|PMID:3354556|PMID:34334128|PMID:34749363|PMID:36073655|PMID:3690667|PMID:3752087|PMID:3821796|PMID:4232783|PMID:49057|PMID:6268660|PMID:6272289|PMID:6280057|PMID:6285354|PMID:6583683|PMID:6584911|PMID:7137165|PMID:7229029|PMID:7384810|PMID:7993409|PMID:81926|PMID:8199597|PMID:8201467|PMID:8462981|PMID:909565|PMID:9556665|PMID:9859938 9057638 Hbb hemoglobin subunit beta gene DOID:9007604 Hemoglobin M Disease ISO RGD:736606 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: HEMOGLOBIN M (SASKATOON) PMID:1163074|PMID:13509426|PMID:13634986|PMID:13897827|PMID:13911805|PMID:14343445|PMID:14452533|PMID:15929117|PMID:18105244|PMID:19727720|PMID:20324533|PMID:24744675|PMID:27264598|PMID:4086306|PMID:4413625|PMID:4841979|PMID:5851873|PMID:5856115|PMID:5996551|PMID:6248489|PMID:7372598|PMID:7663000|PMID:7713749|PMID:7755625|PMID:7929232|PMID:9830011 9057667 Phkg1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:0050724 PSPH deficiency ISO RGD:731844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:28492532 9057667 Phkg1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:12849 autistic disorder ISO RGD:731844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9057667 Phkg1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:731844 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9057667 Phkg1 phosphorylase kinase catalytic subunit gamma 1 gene DOID:630 genetic disease ISO RGD:731844 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057687 Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532|PMID:29845577 9057687 Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0111077 pyruvate kinase deficiency of red cells ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells 9057687 Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0111940 immunodeficiency 42 ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9057687 Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9057687 Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1605973 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9057687 Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:14330 Parkinson's disease ISO RGD:620691 D RGD:9068941 20200609 RGD mRNA:increased expression:neuron: PMID:19320057|REF_RGD_ID:9693679 9057687 Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9057687 Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:5812 MHC class II deficiency ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9057687 Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:630 genetic disease ISO RGD:1605973 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057687 Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:9000930 Dental Pulp Exposure ISO RGD:620691 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:17645513|REF_RGD_ID:9686147 9057687 Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620691 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19815055|REF_RGD_ID:9693680 9057687 Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1605973 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9057699 Riok3 RIO kinase 3 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1321961 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 9057699 Riok3 RIO kinase 3 gene DOID:1059 intellectual disability ISO RGD:1321961 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9057699 Riok3 RIO kinase 3 gene DOID:630 genetic disease ISO RGD:1321961 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057750 Nup107 nucleoporin 107 gene DOID:0080385 nephrotic syndrome type 11 ISO RGD:732596 D RGD:7240710 20190315 OMIM 9057750 Nup107 nucleoporin 107 gene DOID:0080385 nephrotic syndrome type 11 ISO RGD:732596 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 11 PMID:25741868|PMID:26411495|PMID:28492532|PMID:30179222 9057750 Nup107 nucleoporin 107 gene DOID:0080498 ovarian dysgenesis 6 ISO RGD:732596 D RGD:7240710 20190315 OMIM 9057750 Nup107 nucleoporin 107 gene DOID:0080498 ovarian dysgenesis 6 ISO RGD:732596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ovarian dysgenesis 6 PMID:26485283 9057750 Nup107 nucleoporin 107 gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:732596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 9057750 Nup107 nucleoporin 107 gene DOID:5426 primary ovarian insufficiency ISO RGD:732596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 9057750 Nup107 nucleoporin 107 gene DOID:630 genetic disease ISO RGD:732596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9057750 Nup107 nucleoporin 107 gene DOID:9001199 Galloway-Mowat Syndrome 7 ISO RGD:732596 D RGD:7240710 20190315 OMIM 9057750 Nup107 nucleoporin 107 gene DOID:9001199 Galloway-Mowat Syndrome 7 ISO RGD:732596 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 PMID:25558065|PMID:25741868|PMID:28117080|PMID:28280135|PMID:28492532|PMID:30179222 9057750 Nup107 nucleoporin 107 gene DOID:9008086 Developmental Disabilities ISO RGD:732596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25558065|PMID:25741868|PMID:28117080|PMID:28280135|PMID:30179222 9057787 Fabp12 fatty acid binding protein 12 gene DOID:630 genetic disease ISO RGD:2302158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057802 Ttc39c tetratricopeptide repeat domain 39C gene DOID:1059 intellectual disability ISO RGD:1345290 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9057802 Ttc39c tetratricopeptide repeat domain 39C gene DOID:630 genetic disease ISO RGD:1345290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057826 Erc2 ELKS/RAB6-interacting/CAST family member 2 gene DOID:630 genetic disease ISO RGD:1607056 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057865 Aqp7 aquaporin 7 gene DOID:0060180 colitis ISO RGD:736375 D RGD:9068941 20200609 RGD associated with Infection;mRNA, protein:decreased expression:colon PMID:15338270|REF_RGD_ID:1626292 9057865 Aqp7 aquaporin 7 gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9057865 Aqp7 aquaporin 7 gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:736375 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9057865 Aqp7 aquaporin 7 gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9057865 Aqp7 aquaporin 7 gene DOID:11981 morbid obesity ISO RGD:736375 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:17566090|REF_RGD_ID:1626289 9057865 Aqp7 aquaporin 7 gene DOID:8577 ulcerative colitis severity ISO RGD:736375 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colon PMID:15338270|REF_RGD_ID:1626292 9057865 Aqp7 aquaporin 7 gene DOID:8778 Crohn's disease severity ISO RGD:736375 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:colon PMID:15338270|REF_RGD_ID:1626292 9057865 Aqp7 aquaporin 7 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17072980|PMID:25380136 9057865 Aqp7 aquaporin 7 gene DOID:9352 type 2 diabetes mellitus ISO RGD:736375 D RGD:9068941 20200609 RGD protein:increased expression:skeletal muscle: PMID:29783856|REF_RGD_ID:13782361 9057865 Aqp7 aquaporin 7 gene DOID:9562 primary ciliary dyskinesia ISO RGD:736375 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9057865 Aqp7 aquaporin 7 gene DOID:9870 galactosemia ISO RGD:736375 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9057865 Aqp7 aquaporin 7 gene DOID:9970 obesity ISO RGD:736375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16325777 9057901 Slc30a9 solute carrier family 30 member 9 gene DOID:630 genetic disease ISO RGD:1315097 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057901 Slc30a9 solute carrier family 30 member 9 gene DOID:9007774 Birk-Landau-Perez Syndrome ISO RGD:1315097 D RGD:7240710 20190315 OMIM 9057901 Slc30a9 solute carrier family 30 member 9 gene DOID:9007774 Birk-Landau-Perez Syndrome ISO RGD:1315097 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Birk-Landau-Perez syndrome PMID:25741868|PMID:28334855|PMID:28638141|PMID:34433664|PMID:34716203 9057954 Taf4 TATA-box binding protein associated factor 4 gene DOID:630 genetic disease ISO RGD:1345040 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057954 Taf4 TATA-box binding protein associated factor 4 gene DOID:9008872 Autosomal Dominant Intellectual Developmental Disorder 73 ISO RGD:1345040 D RGD:7240710 20230726 OMIM 9057980 Nanp N-acetylneuraminic acid phosphatase gene DOID:630 genetic disease ISO RGD:1345004 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057989 Ifit1 interferon induced protein with tetratricopeptide repeats 1 gene DOID:14497 Wolman disease ISO RGD:1312562 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:28492532 9057989 Ifit1 interferon induced protein with tetratricopeptide repeats 1 gene DOID:289 endometriosis ISO RGD:1312562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 9057989 Ifit1 interferon induced protein with tetratricopeptide repeats 1 gene DOID:630 genetic disease ISO RGD:1312562 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9057989 Ifit1 interferon induced protein with tetratricopeptide repeats 1 gene DOID:9001488 Human Influenza ISO RGD:1312562 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23326326 9057995 Cog1 component of oligomeric golgi complex 1 gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1312123 D RGD:7240710 20180130 OMIM 9057995 Cog1 component of oligomeric golgi complex 1 gene DOID:0070259 congenital disorder of glycosylation type IIg ISO RGD:1312123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G PMID:16199547|PMID:16537452|PMID:17576681|PMID:19008299|PMID:23757202|PMID:23806237|PMID:25741868|PMID:27112773|PMID:28492532|PMID:29127259|PMID:33960418|PMID:9536098 9057995 Cog1 component of oligomeric golgi complex 1 gene DOID:10283 prostate cancer ISO RGD:1312123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9057995 Cog1 component of oligomeric golgi complex 1 gene DOID:1184 nephrotic syndrome ISO RGD:1312123 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:19008299|PMID:25741868|PMID:29127259 9057995 Cog1 component of oligomeric golgi complex 1 gene DOID:5212 congenital disorder of glycosylation ISO RGD:1312123 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 9057995 Cog1 component of oligomeric golgi complex 1 gene DOID:630 genetic disease ISO RGD:1312123 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9057995 Cog1 component of oligomeric golgi complex 1 gene DOID:9006549 Enterovirus Infections ISO RGD:1312123 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28446605 9058032 Kcnj6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1313992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 9058032 Kcnj6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1313992 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 9058032 Kcnj6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:14250 Down syndrome ISO RGD:731945 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:22178330|REF_RGD_ID:6483052 9058032 Kcnj6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:1574 alcohol use disorder ISO RGD:1313992 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2836016 (human) PMID:21307845|REF_RGD_ID:6483053 9058032 Kcnj6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:1826 epilepsy ISO RGD:1313992 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9058032 Kcnj6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:5419 schizophrenia ISO RGD:1313992 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9058032 Kcnj6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:630 genetic disease ISO RGD:1313992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9058032 Kcnj6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:9002955 Nerve Degeneration ISO RGD:1313992 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15256069 9058032 Kcnj6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:9007674 Keppen-Lubinsky Syndrome ISO RGD:1313992 D RGD:7240710 20180130 OMIM 9058032 Kcnj6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:9007674 Keppen-Lubinsky Syndrome ISO RGD:1313992 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: KCNJ6-related condition | ClinVar Annotator: match by term: Keppen-Lubinsky syndrome PMID:19610118|PMID:25620207|PMID:25741868|PMID:28492532 9058032 Kcnj6 potassium inwardly rectifying channel subfamily J member 6 gene DOID:9976 heroin dependence ISO RGD:1313992 D RGD:9068941 20200609 RGD DNA:SNP: :rs2070995 (human) PMID:20220551|REF_RGD_ID:6483055 9058044 Uggt1 UDP-glucose glycoprotein glucosyltransferase 1 gene DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency ISO RGD:1343925 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:17152060|PMID:28492532|PMID:3185623 9058044 Uggt1 UDP-glucose glycoprotein glucosyltransferase 1 gene DOID:630 genetic disease ISO RGD:1343925 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058104 Cdc20b cell division cycle 20B gene DOID:630 genetic disease ISO RGD:1602643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058104 Cdc20b cell division cycle 20B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9058127 Nutf2 nuclear transport factor 2 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1345837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9058127 Nutf2 nuclear transport factor 2 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1345837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15308739 9058127 Nutf2 nuclear transport factor 2 gene DOID:8947 diabetic retinopathy ISO RGD:1345837 D RGD:9068941 20200609 RGD mRNA:decreased expression:peripheral blood: PMID:19404486|REF_RGD_ID:9831377 9058127 Nutf2 nuclear transport factor 2 gene DOID:8947 diabetic retinopathy treatment ISO RGD:1359213 D RGD:9068941 20200609 RGD PMID:19404486|REF_RGD_ID:9831377 9058148 Myo5c myosin VC gene DOID:2717 Bloom syndrome ISO RGD:1320640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9058148 Myo5c myosin VC gene DOID:303 substance-related disorder ISO RGD:1320640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20098672 9058148 Myo5c myosin VC gene DOID:607 paraplegia ISO RGD:1320640 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 9058148 Myo5c myosin VC gene DOID:630 genetic disease ISO RGD:1320640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058148 Myo5c myosin VC gene DOID:9256 colorectal cancer ISO RGD:1320640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9058192 Fut8 fucosyltransferase 8 gene DOID:0110330 Leber congenital amaurosis 13 ISO RGD:1344316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 9058192 Fut8 fucosyltransferase 8 gene DOID:630 genetic disease ISO RGD:1344316 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29304374 9058192 Fut8 fucosyltransferase 8 gene DOID:9003434 Congenital Disorder of Glycosylation with Defective Fucosylation 1 ISO RGD:1344316 D RGD:7240710 20190315 OMIM 9058192 Fut8 fucosyltransferase 8 gene DOID:9003434 Congenital Disorder of Glycosylation with Defective Fucosylation 1 ISO RGD:1344316 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation with defective fucosylation 1 PMID:24033266|PMID:25741868|PMID:28492532|PMID:29304374 9058192 Fut8 fucosyltransferase 8 gene DOID:9675 pulmonary emphysema ISO RGD:1550689 D RGD:9068941 20220825 MouseDO OMIM:130700 9058248 Slc16a6 solute carrier family 16 member 6 gene DOID:289 endometriosis ISO RGD:1343675 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 9058248 Slc16a6 solute carrier family 16 member 6 gene DOID:630 genetic disease ISO RGD:1343675 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ISO RGD:734400 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 4 PMID:23599390 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0060356 Vici syndrome ISO RGD:734400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:28492532 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A ISO RGD:734400 D RGD:7240710 20230726 OMIM 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A ISO RGD:734400 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A PMID:25741868|PMID:28492532|PMID:34483339|PMID:34954817 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B ISO RGD:734400 D RGD:7240710 20230726 OMIM 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:619993 D RGD:9068941 20200609 RGD PMID:25222487|REF_RGD_ID:13703054 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0111498 combined oxidative phosphorylation deficiency 22 ISO RGD:734400 D RGD:7240710 20180130 OMIM 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:0111498 combined oxidative phosphorylation deficiency 22 ISO RGD:734400 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ATP5F1A-related condition | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22 PMID:23596069|PMID:25741868|PMID:28492532|PMID:34954817 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:1059 intellectual disability ISO RGD:734400 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:10652 Alzheimer's disease ISO RGD:734400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374891 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:10652 Alzheimer's disease onset ISO RGD:734401 D RGD:9068941 20200609 RGD protein:increased modification:inferior parietal cortex (human) PMID:19374891|REF_RGD_ID:13703046 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:10652 Alzheimer's disease treatment ISO RGD:619993 D RGD:9068941 20200609 RGD PMID:25561935|REF_RGD_ID:13703056 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:10763 hypertension ISO RGD:619993 D RGD:9068941 20200609 RGD protein:decreased expression:heart left ventricle (rat) PMID:24388463|REF_RGD_ID:7800726 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:3650 lactic acidosis ISO RGD:734400 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:25741868|PMID:34483339|PMID:34954817 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:630 genetic disease ISO RGD:734400 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:6432 pulmonary hypertension treatment ISO RGD:619993 D RGD:9068941 20200609 RGD chronic thromboembolic pulmonary hypertension PMID:21396162|REF_RGD_ID:13703061 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:700 mitochondrial metabolism disease ISO RGD:734400 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Mitochondrial disease 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:8725 vascular dementia ISO RGD:734400 D RGD:9068941 20200609 RGD PMID:24448401|REF_RGD_ID:14696801 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9000099 Experimental Colitis treatment ISO RGD:619993 D RGD:9068941 20200609 RGD PMID:25689466|REF_RGD_ID:13703055 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9002231 Fetal Growth Retardation ISO RGD:619993 D RGD:9068941 20200609 RGD protein:increased expression:retroperitoneal fat pad (rat) PMID:26633942|REF_RGD_ID:13703049 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9002669 Hypoxia ISO RGD:619993 D RGD:9068941 20200609 RGD protein:decreased expression:gastrocnemius (rat) PMID:22401655|REF_RGD_ID:13703058 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9002791 Microcephaly, Epilepsy, and Diabetes Syndrome ISO RGD:734400 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome PMID:28492532 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:619993 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, mitochondrion (rat) PMID:28526935|REF_RGD_ID:13703047 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9005930 Endotoxemia ISO RGD:734400 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16741687 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9008691 Liver Injury ISO RGD:619993 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:25772430|REF_RGD_ID:13800895 9058261 Atp5f1a ATP synthase F1 subunit alpha gene DOID:9008824 Sarcopenia ISO RGD:619993 D RGD:9068941 20200609 RGD protein:increased localization:gastrocnemius (rat) PMID:20850499|REF_RGD_ID:13703063 9058279 Itsn2 intersectin 2 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1353883 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:24614070|PMID:26866722|PMID:28492532|PMID:29900417 9058279 Itsn2 intersectin 2 gene DOID:1184 nephrotic syndrome ISO RGD:1558192 D RGD:9068941 20220825 MouseDO 9058279 Itsn2 intersectin 2 gene DOID:12894 Sjogren's syndrome ISO RGD:1353883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24097067 9058279 Itsn2 intersectin 2 gene DOID:2538 Landau-Kleffner syndrome ISO RGD:1353883 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Landau-Kleffner syndrome PMID:25741868 9058279 Itsn2 intersectin 2 gene DOID:630 genetic disease ISO RGD:1353883 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9058279 Itsn2 intersectin 2 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9058279 Itsn2 intersectin 2 gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1353883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 9058279 Itsn2 intersectin 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1353883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 9058353 Pdzd8 PDZ domain containing 8 gene DOID:630 genetic disease ISO RGD:1318503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058353 Pdzd8 PDZ domain containing 8 gene DOID:9003701 Intellectual Developmental Disorder with Autism and Dysmorphic Facies ISO RGD:1318503 D RGD:7240710 20221116 OMIM 9058353 Pdzd8 PDZ domain containing 8 gene DOID:9003701 Intellectual Developmental Disorder with Autism and Dysmorphic Facies ISO RGD:1318503 D RGD:8554872 20221115 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with autism and dysmorphic facies PMID:35227461 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1606716 D RGD:7240710 20180130 OMIM 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:0060886 osteopathia striata with cranial sclerosis ISO RGD:1606716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AMER1-related condition | ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis PMID:19079258|PMID:20209645|PMID:20950377|PMID:22043478|PMID:22716240|PMID:24033266|PMID:24728327|PMID:25741868|PMID:27369646|PMID:28492532|PMID:8723089|PMID:9327263|PMID:9383023 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:0080215 developmental and epileptic encephalopathy 8 ISO RGD:1606716 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 PMID:28492532 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:0111829 X-linked spinocerebellar ataxia 1 ISO RGD:1606716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked PMID:26242992|PMID:28492532 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:12849 autistic disorder ISO RGD:1606716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:2154 nephroblastoma ISO RGD:1606716 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:630 genetic disease ISO RGD:1606716 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19079258|PMID:20209645|PMID:24728327|PMID:25741868|PMID:28492532 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:674 cleft palate ISO RGD:1606716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft palate PMID:25741868 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:9008945 Gram-Negative Bacterial Infections ISO RGD:1606716 D RGD:9068941 20220317 RGD associated with colorectal cancer;DNA:mutation:multiple (human) PMID:30062471|REF_RGD_ID:151665182 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1606716 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Colorectal cancer 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1606716 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:28492532|PMID:34549727|PMID:34771502 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer exacerbates ISO RGD:1606716 D RGD:9068941 20220317 RGD protein:decreased expression:colonic mucosa (human) PMID:30631060|REF_RGD_ID:151665181 9058378 Amer1 APC membrane recruitment protein 1 gene DOID:9256 colorectal cancer onset ISO RGD:1606716 D RGD:9068941 20220317 RGD DNA:mutations: (human) PMID:31243121|REF_RGD_ID:151665183 9058391 Slco6a1 solute carrier organic anion transporter family member 6A1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1353358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9058391 Slco6a1 solute carrier organic anion transporter family member 6A1 gene DOID:630 genetic disease ISO RGD:1353358 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058391 Slco6a1 solute carrier organic anion transporter family member 6A1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353358 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9058391 Slco6a1 solute carrier organic anion transporter family member 6A1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1353358 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0060180 colitis treatment ISO RGD:1306661 D RGD:9068941 20200609 RGD PMID:17543437|REF_RGD_ID:2298659 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0060647 fetal encasement syndrome ISO RGD:1315401 D RGD:7240710 20180130 OMIM 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0060647 fetal encasement syndrome ISO RGD:1315401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cocoon syndrome PMID:20961246 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:0080006 bone development disease ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10346820 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:10283 prostate cancer ISO RGD:1315401 D RGD:9068941 20200609 RGD protein:increased serine phosphorylation:prostate gland PMID:26435478|REF_RGD_ID:13504773 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:12849 autistic disorder ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20957522 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:219 colon cancer ISO RGD:1315401 D RGD:9068941 20220811 RGD protein:increased expression:colon (human) PMID:16774932|REF_RGD_ID:153305944 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:2526 prostate adenocarcinoma treatment ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:26379052|REF_RGD_ID:13504774 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:2841 asthma ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:21496385|REF_RGD_ID:5133703 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:3571 liver cancer ISO RGD:1315401 D RGD:9068941 20220811 RGD human cells in mouse model PMID:27367027|REF_RGD_ID:153305911 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:4159 skin cancer ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:21755017|REF_RGD_ID:13504775 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:630 genetic disease ISO RGD:1315401 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:674 cleft palate ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10346820 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:767 muscular atrophy treatment ISO RGD:1306661 D RGD:9068941 20200609 RGD PMID:18827022|REF_RGD_ID:7495773 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:874 bacterial pneumonia ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:18643924|REF_RGD_ID:5133701 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9000965 Neoplasm Metastasis ISO RGD:1315402 D RGD:9068941 20200609 RGD associated with prostate adenocarcinoma PMID:17377533|REF_RGD_ID:2298657 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9001946 Skin Abnormalities ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10195895|PMID:10195896|PMID:10346820 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9001984 Fetal Diseases ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10195895|PMID:10195896|PMID:10346820|PMID:20961246 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315402 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:18317887|REF_RGD_ID:2291908 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9005372 Inflammation ISO RGD:1315402 D RGD:9068941 20200609 RGD PMID:20472709|REF_RGD_ID:5133702 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9006294 Congenital Limb Deformities ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10195895|PMID:10195896|PMID:10346820|PMID:20961246 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9006857 Bartsocas-Papas Syndrome 2 ISO RGD:1315401 D RGD:7240710 20210616 OMIM 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9006857 Bartsocas-Papas Syndrome 2 ISO RGD:1315401 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 PMID:25691407 9058412 Chuk component of inhibitor of nuclear factor kappa B kinase complex gene DOID:9007653 Multiple Abnormalities ISO RGD:1315401 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20961246 9058441 Nanos3 nanos C2HC-type zinc finger 3 gene DOID:630 genetic disease ISO RGD:1315421 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058451 Pgm2l1 phosphoglucomutase 2 like 1 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1316099 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 9058451 Pgm2l1 phosphoglucomutase 2 like 1 gene DOID:1059 intellectual disability ISO RGD:1316099 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9058451 Pgm2l1 phosphoglucomutase 2 like 1 gene DOID:630 genetic disease ISO RGD:1316099 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058451 Pgm2l1 phosphoglucomutase 2 like 1 gene DOID:9003945 Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities ISO RGD:1316099 D RGD:7240710 20230125 OMIM 9058451 Pgm2l1 phosphoglucomutase 2 like 1 gene DOID:9003945 Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities ISO RGD:1316099 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities PMID:28492532|PMID:33979636 9058487 Ccdc9 coiled-coil domain containing 9 gene DOID:630 genetic disease ISO RGD:1348427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases 9058534 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9058534 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:4079 heart valve disease ISO RGD:1318082 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31844321 9058534 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:62 aortic valve disease ISO RGD:1318083 D RGD:9068941 20220825 MouseDO 9058534 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:630 genetic disease ISO RGD:1318082 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058534 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:9001576 CARDIAC VALVULAR DYSPLASIA 2 ISO RGD:1318082 D RGD:7240710 20221207 OMIM 9058534 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:9001576 CARDIAC VALVULAR DYSPLASIA 2 ISO RGD:1318082 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac valvular dysplasia 2 PMID:31844321|PMID:32323311 9058534 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318082 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9058534 Adamts19 ADAM metallopeptidase with thrombospondin type 1 motif 19 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318082 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9058565 Trib2 tribbles pseudokinase 2 gene DOID:5419 schizophrenia ISO RGD:1351441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9058565 Trib2 tribbles pseudokinase 2 gene DOID:630 genetic disease ISO RGD:1351441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058576 Rnmt RNA guanine-7 methyltransferase gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:1319473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 9058576 Rnmt RNA guanine-7 methyltransferase gene DOID:1059 intellectual disability ISO RGD:1319473 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9058576 Rnmt RNA guanine-7 methyltransferase gene DOID:630 genetic disease ISO RGD:1319473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058587 Pgls 6-phosphogluconolactonase gene DOID:11476 osteoporosis ISO RGD:1315936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18924182 9058587 Pgls 6-phosphogluconolactonase gene DOID:630 genetic disease ISO RGD:1315936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058595 C1qb complement C1q B chain gene DOID:0060369 Parkinson's disease 6 ISO RGD:1346671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 9058595 C1qb complement C1q B chain gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1346671 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 9058595 C1qb complement C1q B chain gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1346671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 9058595 C1qb complement C1q B chain gene DOID:0080600 COVID-19 ISO RGD:1346671 D RGD:9068941 20200611 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9058595 C1qb complement C1q B chain gene DOID:10652 Alzheimer's disease ISO RGD:1346671 D RGD:9068941 20200609 RGD mRNA:increased expression:microglial cell PMID:1362796|REF_RGD_ID:1599518 9058595 C1qb complement C1q B chain gene DOID:2945 severe acute respiratory syndrome disease_progression ISO RGD:1346671 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (human) PMID:19635508|REF_RGD_ID:5490168 9058595 C1qb complement C1q B chain gene DOID:2986 IgA glomerulonephritis ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25133636 9058595 C1qb complement C1q B chain gene DOID:5082 liver cirrhosis ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26396155 9058595 C1qb complement C1q B chain gene DOID:5119 ovarian cyst ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 9058595 C1qb complement C1q B chain gene DOID:612 primary immunodeficiency disease ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2894352 9058595 C1qb complement C1q B chain gene DOID:630 genetic disease ISO RGD:1346671 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9058595 C1qb complement C1q B chain gene DOID:9000039 Spinal Cord Injuries ISO RGD:2229 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:16345062|REF_RGD_ID:1599510 9058595 C1qb complement C1q B chain gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9058595 C1qb complement C1q B chain gene DOID:9005908 Retrograde Degeneration ISO RGD:2229 D RGD:9068941 20200609 RGD mRNA:increased expression PMID:16934480|REF_RGD_ID:1599508 9058595 C1qb complement C1q B chain gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1346671 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9058595 C1qb complement C1q B chain gene DOID:9006341 C1q Deficiency 2 ISO RGD:1346671 D RGD:7240710 20230505 OMIM 9058595 C1qb complement C1q B chain gene DOID:9006341 C1q Deficiency 2 ISO RGD:1346671 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: C1q deficiency 2 PMID:24160257|PMID:25741868|PMID:2894352 9058595 C1qb complement C1q B chain gene DOID:9007102 Myocardial Ischemia ISO RGD:1346671 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9058595 C1qb complement C1q B chain gene DOID:9007516 C1q Deficiency ISO RGD:1346671 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: C1Q deficiency PMID:17513176|PMID:21654842|PMID:25741868|PMID:28492532 9058595 C1qb complement C1q B chain gene DOID:9007806 Drug Hypersensitivity Syndrome ISO RGD:1346671 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34142820 9058595 C1qb complement C1q B chain gene DOID:9282 ocular hypertension ISO RGD:1346671 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 9058595 C1qb complement C1q B chain gene DOID:9282 ocular hypertension ISO RGD:2229 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16677633|REF_RGD_ID:1599509 9058612 Hrh4 histamine receptor H4 gene DOID:0080600 COVID-19 ISO RGD:735405 D RGD:9068941 20200611 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9058612 Hrh4 histamine receptor H4 gene DOID:1059 intellectual disability ISO RGD:735405 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9058612 Hrh4 histamine receptor H4 gene DOID:299 adenocarcinoma ISO RGD:735405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363581 9058612 Hrh4 histamine receptor H4 gene DOID:630 genetic disease ISO RGD:735405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058612 Hrh4 histamine receptor H4 gene DOID:9000217 Stomach Neoplasms ISO RGD:735405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22363581 9058612 Hrh4 histamine receptor H4 gene DOID:9006202 Pruritus ISO RGD:735405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19652466 9058629 Cnot3 CCR4-NOT transcription complex subunit 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1312407 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9058629 Cnot3 CCR4-NOT transcription complex subunit 3 gene DOID:1059 intellectual disability ISO RGD:1312407 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9058629 Cnot3 CCR4-NOT transcription complex subunit 3 gene DOID:5603 T-cell acute lymphoblastic leukemia ISO RGD:1312407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23263491 9058629 Cnot3 CCR4-NOT transcription complex subunit 3 gene DOID:630 genetic disease ISO RGD:1312407 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:31474762|PMID:32461654 9058629 Cnot3 CCR4-NOT transcription complex subunit 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1312407 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475|PMID:29662167 9058629 Cnot3 CCR4-NOT transcription complex subunit 3 gene DOID:9008086 Developmental Disabilities ISO RGD:1312407 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9058629 Cnot3 CCR4-NOT transcription complex subunit 3 gene DOID:9008787 Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies ISO RGD:1312407 D RGD:7240710 20200115 OMIM 9058629 Cnot3 CCR4-NOT transcription complex subunit 3 gene DOID:9008787 Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies ISO RGD:1312407 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies PMID:25741868|PMID:28492532|PMID:29758562|PMID:31201375|PMID:32720325 9058658 Cltrn collectrin, amino acid transport regulator gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1354044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9058658 Cltrn collectrin, amino acid transport regulator gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1354044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 9058658 Cltrn collectrin, amino acid transport regulator gene DOID:12849 autistic disorder ISO RGD:1354044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9058658 Cltrn collectrin, amino acid transport regulator gene DOID:13636 Fanconi anemia ISO RGD:1354044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 9058658 Cltrn collectrin, amino acid transport regulator gene DOID:5199 ureteral obstruction ISO RGD:1354044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12887829 9058658 Cltrn collectrin, amino acid transport regulator gene DOID:630 genetic disease ISO RGD:1354044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058658 Cltrn collectrin, amino acid transport regulator gene DOID:684 hepatocellular carcinoma ISO RGD:1354044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9058658 Cltrn collectrin, amino acid transport regulator gene DOID:9002207 Renal Aminoacidurias ISO RGD:1354044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aminoaciduria 9058658 Cltrn collectrin, amino acid transport regulator gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1354044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9058673 Cenps centromere protein S gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1602808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 9058673 Cenps centromere protein S gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1602808 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9058673 Cenps centromere protein S gene DOID:0111936 immunodeficiency 14 ISO RGD:1602808 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 9058673 Cenps centromere protein S gene DOID:630 genetic disease ISO RGD:1602808 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058682 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:19050728|PMID:19289393|PMID:21844811|PMID:23044707|PMID:25255310|PMID:25741868|PMID:27569545 9058682 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060394 chromosome 15q13.3 microdeletion syndrome ISO RGD:1604829 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome PMID:31690835 9058682 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1604829 D RGD:7240710 20180130 OMIM 9058682 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:0060911 karyomegalic interstitial nephritis ISO RGD:1604829 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: FAN1-related condition | ClinVar Annotator: match by term: Karyomegalic interstitial nephritis PMID:16678356|PMID:17304531|PMID:20621605|PMID:22772369|PMID:25741868|PMID:27196444|PMID:28492532|PMID:29590070|PMID:30773290|PMID:32111193|PMID:32220227|PMID:7847351|PMID:8546134 9058682 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:12849 autistic disorder ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9058682 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:5419 schizophrenia ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9058682 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 9058682 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:630 genetic disease ISO RGD:1604829 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9058682 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604829 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9058682 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:9004652 Megalocytic Interstitial Nephritis ISO RGD:1604829 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22772369 9058682 Fan1 FANCD2 and FANCI associated nuclease 1 gene DOID:9256 colorectal cancer ISO RGD:1604829 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532 9058702 Klhl18 kelch like family member 18 gene DOID:630 genetic disease ISO RGD:1351976 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058702 Klhl18 kelch like family member 18 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1351976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 9058702 Klhl18 kelch like family member 18 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1351976 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:28492532 9058724 Ermap erythroblast membrane associated protein (Scianna blood group) gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1320643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9058724 Ermap erythroblast membrane associated protein (Scianna blood group) gene DOID:1098 fetal erythroblastosis ISO RGD:1320643 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Radin blood group PMID:12393480 9058724 Ermap erythroblast membrane associated protein (Scianna blood group) gene DOID:630 genetic disease ISO RGD:1320643 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058763 Sptlc2 serine palmitoyltransferase long chain base subunit 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1354205 D RGD:7240710 20180130 OMIM 9058763 Sptlc2 serine palmitoyltransferase long chain base subunit 2 gene DOID:0070157 hereditary sensory and autonomic neuropathy type 1C ISO RGD:1354205 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1C PMID:16199547|PMID:17081983|PMID:17576681|PMID:19564159|PMID:20920666|PMID:23658386|PMID:24175284|PMID:25567748|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26573920|PMID:26681808|PMID:27066551|PMID:27549087|PMID:28166811|PMID:28492532|PMID:28902413|PMID:29042446|PMID:29184351|PMID:30373780|PMID:30866134|PMID:30955194|PMID:30995999|PMID:31509666|PMID:31692161|PMID:32730653|PMID:36966328|PMID:9536098 9058763 Sptlc2 serine palmitoyltransferase long chain base subunit 2 gene DOID:0080600 COVID-19 ISO RGD:1354205 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9058763 Sptlc2 serine palmitoyltransferase long chain base subunit 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1354205 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17081983|PMID:25567748|PMID:25741868|PMID:26681808|PMID:28492532|PMID:28902413|PMID:29184351|PMID:30866134|PMID:30955194|PMID:30995999|PMID:31509666|PMID:32730653 9058763 Sptlc2 serine palmitoyltransferase long chain base subunit 2 gene DOID:630 genetic disease ISO RGD:1354205 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:19564159|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26573920|PMID:28166811|PMID:28492532|PMID:29042446|PMID:30373780|PMID:31692161|PMID:36966328|PMID:9536098 9058763 Sptlc2 serine palmitoyltransferase long chain base subunit 2 gene DOID:8893 psoriasis ISO RGD:1614415 D RGD:9068941 20220825 MouseDO OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106 9058793 Fbxo48 F-box protein 48 gene DOID:630 genetic disease ISO RGD:1605751 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058800 Ubxn2a UBX domain protein 2A gene DOID:630 genetic disease ISO RGD:1320427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058817 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency ISO RGD:1321620 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency PMID:10485305|PMID:11170888|PMID:11181649|PMID:11406611|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:22264772|PMID:22642865|PMID:24033266|PMID:25190158|PMID:25356967|PMID:25382614|PMID:25741868|PMID:26566957|PMID:27601257|PMID:28492532|PMID:29111448|PMID:30626930|PMID:30904546|PMID:31730530|PMID:31901042|PMID:32746448|PMID:35281663|PMID:35664874|PMID:36787440|PMID:36822454|PMID:9536098 9058817 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1321620 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 9058817 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1321620 D RGD:7240710 20180130 OMIM 9058817 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1321620 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 | ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency PMID:10485305|PMID:11170888|PMID:11181649|PMID:11406611|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16199547|PMID:16835865|PMID:17576681|PMID:17968484|PMID:19339287|PMID:21071250|PMID:22264772|PMID:22642865|PMID:24033266|PMID:24078573|PMID:25190158|PMID:25356967|PMID:25382614|PMID:25640679|PMID:25741868|PMID:26566957|PMID:27577216|PMID:27601257|PMID:28492532|PMID:29111448|PMID:30626930|PMID:30838026|PMID:30887117|PMID:30904546|PMID:31730530|PMID:31737040|PMID:31901042|PMID:32746448|PMID:35281663|PMID:35664874|PMID:36787440|PMID:36822454|PMID:9187484|PMID:9536098 9058817 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:0111546 Currarino syndrome ISO RGD:1321620 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 9058817 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:630 genetic disease ISO RGD:1321620 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10485305|PMID:11170888|PMID:11181649|PMID:14680978|PMID:15359379|PMID:15868465|PMID:16010683|PMID:16835865|PMID:17576681|PMID:22264772|PMID:22642865|PMID:25356967|PMID:25741868|PMID:28492532|PMID:29111448|PMID:30626930|PMID:9536098 9058817 Mccc1 methylcrotonyl-CoA carboxylase subunit 1 gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1321620 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 9058839 Cryzl1 crystallin zeta like 1 gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1320993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 9058839 Cryzl1 crystallin zeta like 1 gene DOID:0060898 Parkinson's disease 20 ISO RGD:1320993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early-onset Parkinson disease 20 PMID:28492532 9058839 Cryzl1 crystallin zeta like 1 gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1320993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 9058839 Cryzl1 crystallin zeta like 1 gene DOID:630 genetic disease ISO RGD:1320993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058839 Cryzl1 crystallin zeta like 1 gene DOID:9005698 ZTTK Syndrome ISO RGD:1320993 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ZTTK syndrome PMID:25741868 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:1612 breast cancer ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:24233520|REF_RGD_ID:7495808 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:1612 breast cancer ISO RGD:1315342 D RGD:9068941 20200609 RGD protein:increased protein:mammary gland PMID:12618338|REF_RGD_ID:7495809 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:219 colon cancer ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:24233520|REF_RGD_ID:7495808 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:3068 glioblastoma disease_progression ISO RGD:1315342 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:brain PMID:17406030|REF_RGD_ID:1641940 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:3069 malignant astrocytoma ISO RGD:1315342 D RGD:9068941 20200609 RGD protein:increased expression, increased phosphorylation:brain PMID:17406030|REF_RGD_ID:1641940 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:397 restrictive cardiomyopathy ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:11593045|REF_RGD_ID:1302548 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:4362 cervical cancer treatment ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:20980434|REF_RGD_ID:7495806 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:5679 retinal disease treatment ISO RGD:1306620 D RGD:9068941 20200609 RGD PMID:16805832|REF_RGD_ID:7495810 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:630 genetic disease ISO RGD:1315342 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:9002211 Hyperalgesia onset ISO RGD:1315343 D RGD:9068941 20200609 RGD PMID:19427893|REF_RGD_ID:7495807 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315342 D RGD:9068941 20201015 CTD CTD Direct Evidence: marker/mechanism PMID:32512071 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:9004547 Thyroid Neoplasms ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:24233520|REF_RGD_ID:7495808 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:9005172 Lung Neoplasms ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:24233520|REF_RGD_ID:7495808 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:24233520|REF_RGD_ID:7495808 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1306620 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney, glomerulus PMID:11473637|REF_RGD_ID:7495813 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:1306620 D RGD:9068941 20200609 RGD PMID:20550965|REF_RGD_ID:7243113 9058856 Map2k3 mitogen-activated protein kinase kinase 3 gene DOID:916 liver benign neoplasm ISO RGD:1315342 D RGD:9068941 20200609 RGD PMID:24233520|REF_RGD_ID:7495808 9058874 Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:0060041 autism spectrum disorder ISO RGD:732942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9058874 Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:0080236 autosomal dominant intellectual developmental disorder 45 ISO RGD:732942 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 PMID:25741868 9058874 Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9058874 Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:1342 congenital hypoplastic anemia ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9058874 Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:2340 craniosynostosis ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: Syndromic craniosynostosis PMID:28492532 9058874 Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:5419 schizophrenia ISO RGD:732942 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9058874 Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:630 genetic disease ISO RGD:732942 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058874 Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9058874 Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:9006994 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN ISO RGD:732942 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin PMID:25741868 9058874 Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 gene DOID:9269 maple syrup urine disease ISO RGD:732942 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9058885 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:0050990 episodic ataxia type 2 ISO RGD:1343662 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 9058885 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1343662 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9058885 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:0111254 glutaric acidemia I ISO RGD:1343662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 9058885 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:3413 alpha-mannosidosis ISO RGD:1343662 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9058885 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:630 genetic disease ISO RGD:1343662 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9058885 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:9000258 Aicardi-Goutieres Syndrome 4 ISO RGD:1343662 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 PMID:28492532 9058885 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:9001921 AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME ISO RGD:1343662 D RGD:7240710 20220615 OMIM 9058885 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:9001921 AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME ISO RGD:1343662 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: Autoinflammatory-pancytopenia syndrome | ClinVar Annotator: match by term: DNASE2-related condition PMID:17576681|PMID:24242851|PMID:25741868|PMID:28492532|PMID:29259162|PMID:31775019|PMID:9536098 9058885 Dnase2 deoxyribonuclease 2, lysosomal gene DOID:9074 systemic lupus erythematosus ISO RGD:1343662 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Systemic lupus erythematosus 9058895 Ttpa alpha tocopherol transfer protein gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:731914 D RGD:7240710 20180130 OMIM 9058895 Ttpa alpha tocopherol transfer protein gene DOID:0090028 familial isolated deficiency of vitamin E ISO RGD:731914 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E | ClinVar Annotator: match by term: Friedreich-like ataxia with selective vitamin E deficiency PMID:10360777|PMID:10896705|PMID:11013295|PMID:11916749|PMID:12039660|PMID:12112220|PMID:12470185|PMID:12899840|PMID:12907280|PMID:14657365|PMID:15065857|PMID:15300460|PMID:15953402|PMID:16199547|PMID:16819822|PMID:17049453|PMID:17576681|PMID:18414213|PMID:18458085|PMID:19566498|PMID:20301419|PMID:21110980|PMID:21228398|PMID:22479462|PMID:22696689|PMID:23077608|PMID:23445347|PMID:23599266|PMID:23713716|PMID:24033266|PMID:24369383|PMID:25262571|PMID:25614784|PMID:25741868|PMID:26068213|PMID:26467025|PMID:27021565|PMID:27274910|PMID:27307040|PMID:28492532|PMID:28945198|PMID:30902645|PMID:31429931|PMID:31970222|PMID:33652732|PMID:34426522|PMID:34563650|PMID:34759169|PMID:3477125|PMID:3837850|PMID:7566022|PMID:7719340|PMID:8602747|PMID:8965888|PMID:9270601|PMID:9463307|PMID:9536098|PMID:9588854|PMID:9931538 9058895 Ttpa alpha tocopherol transfer protein gene DOID:10584 retinitis pigmentosa ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 9058895 Ttpa alpha tocopherol transfer protein gene DOID:1936 atherosclerosis ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095717 9058895 Ttpa alpha tocopherol transfer protein gene DOID:5679 retinal disease ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11752462 9058895 Ttpa alpha tocopherol transfer protein gene DOID:630 genetic disease ISO RGD:731914 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 9058895 Ttpa alpha tocopherol transfer protein gene DOID:767 muscular atrophy ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 9058895 Ttpa alpha tocopherol transfer protein gene DOID:863 nervous system disease ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11752462 9058895 Ttpa alpha tocopherol transfer protein gene DOID:9000343 Vision Disorders ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 9058895 Ttpa alpha tocopherol transfer protein gene DOID:9002500 Hearing Disorders ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 9058895 Ttpa alpha tocopherol transfer protein gene DOID:9003919 Urination Disorders ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 9058895 Ttpa alpha tocopherol transfer protein gene DOID:9004866 Ataxia susceptibility ISO RGD:731914 D RGD:9068941 20200609 RGD DNA:frameshift mutations: ; associated with Vitamin E Deficiency PMID:7719340|REF_RGD_ID:1600430 9058895 Ttpa alpha tocopherol transfer protein gene DOID:9005219 Abnormal Reflexes ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 9058895 Ttpa alpha tocopherol transfer protein gene DOID:9006205 Animal Disease Models ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095717|PMID:11752462 9058895 Ttpa alpha tocopherol transfer protein gene DOID:9006575 Vitamin E Deficiency ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11095717 9058895 Ttpa alpha tocopherol transfer protein gene DOID:9007480 Hyperoxia ISO RGD:3915 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:12448818|REF_RGD_ID:1600432 9058895 Ttpa alpha tocopherol transfer protein gene DOID:9008625 Somatosensory Disorders ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 9058895 Ttpa alpha tocopherol transfer protein gene DOID:916 liver benign neoplasm ISO RGD:3915 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:9178827|REF_RGD_ID:1600436 9058895 Ttpa alpha tocopherol transfer protein gene DOID:92 speech disorder ISO RGD:731914 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10896705 9058903 Taf7l TATA-box binding protein associated factor 7 like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9058903 Taf7l TATA-box binding protein associated factor 7 like gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1350801 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 9058903 Taf7l TATA-box binding protein associated factor 7 like gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1350801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 9058903 Taf7l TATA-box binding protein associated factor 7 like gene DOID:12849 autistic disorder ISO RGD:1350801 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9058903 Taf7l TATA-box binding protein associated factor 7 like gene DOID:14499 Fabry disease ISO RGD:1350801 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:28492532 9058903 Taf7l TATA-box binding protein associated factor 7 like gene DOID:630 genetic disease ISO RGD:1350801 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058903 Taf7l TATA-box binding protein associated factor 7 like gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1350801 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 9058926 Alox15b arachidonate 15-lipoxygenase type B gene DOID:0060041 autism spectrum disorder ISO RGD:731629 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9058926 Alox15b arachidonate 15-lipoxygenase type B gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9058926 Alox15b arachidonate 15-lipoxygenase type B gene DOID:0080600 COVID-19 ISO RGD:731629 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9058926 Alox15b arachidonate 15-lipoxygenase type B gene DOID:0111011 cone-rod dystrophy 6 ISO RGD:731629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 9058926 Alox15b arachidonate 15-lipoxygenase type B gene DOID:12177 common variable immunodeficiency ISO RGD:731629 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9058926 Alox15b arachidonate 15-lipoxygenase type B gene DOID:1339 Diamond-Blackfan anemia ISO RGD:731629 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 9058926 Alox15b arachidonate 15-lipoxygenase type B gene DOID:2729 dyskeratosis congenita ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 9058926 Alox15b arachidonate 15-lipoxygenase type B gene DOID:3012 Li-Fraumeni syndrome ISO RGD:731629 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 9058926 Alox15b arachidonate 15-lipoxygenase type B gene DOID:630 genetic disease ISO RGD:731629 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058948 Ccdc110 coiled-coil domain containing 110 gene DOID:12849 autistic disorder ISO RGD:1606416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9058948 Ccdc110 coiled-coil domain containing 110 gene DOID:12930 dilated cardiomyopathy ISO RGD:1606416 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 9058948 Ccdc110 coiled-coil domain containing 110 gene DOID:630 genetic disease ISO RGD:1606416 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058948 Ccdc110 coiled-coil domain containing 110 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1606416 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:25118264|PMID:25629076|PMID:28492532 9058965 Ipp intracisternal A particle-promoted polypeptide gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1314841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9058965 Ipp intracisternal A particle-promoted polypeptide gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1314841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9058965 Ipp intracisternal A particle-promoted polypeptide gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1314841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9058965 Ipp intracisternal A particle-promoted polypeptide gene DOID:13938 amenorrhea ISO RGD:1314841 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9058965 Ipp intracisternal A particle-promoted polypeptide gene DOID:630 genetic disease ISO RGD:1314841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058965 Ipp intracisternal A particle-promoted polypeptide gene DOID:9008443 Colorectal Neoplasms ISO RGD:1314841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25944804 9058986 Fam118b family with sequence similarity 118 member B gene DOID:0110877 holoprosencephaly 11 ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 9058986 Fam118b family with sequence similarity 118 member B gene DOID:0111723 Jacobsen Syndrome ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 9058986 Fam118b family with sequence similarity 118 member B gene DOID:5419 schizophrenia ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9058986 Fam118b family with sequence similarity 118 member B gene DOID:630 genetic disease ISO RGD:1603013 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9058986 Fam118b family with sequence similarity 118 member B gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9058986 Fam118b family with sequence similarity 118 member B gene DOID:9007661 Dwarfism ISO RGD:1603013 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1604651 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0111934 immunodeficiency 38 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:0111935 immunodeficiency 16 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:11168 anogenital venereal wart ISO RGD:1604651 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:321 tropical spastic paraparesis ISO RGD:1604651 D RGD:9068941 20200831 RGD mRNA:decreased expression: T cell PMID:20945034|REF_RGD_ID:38549361 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:321 tropical spastic paraparesis disease_progression ISO RGD:1604651 D RGD:9068941 20200813 RGD PMID:28101786|REF_RGD_ID:38456004 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:630 genetic disease ISO RGD:1604651 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1604651 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1604651 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9059031 Tnfrsf18 TNF receptor superfamily member 18 gene DOID:9065 leishmaniasis ISO RGD:1604651 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20139272 9059046 Mamdc2 MAM domain containing 2 gene DOID:10283 prostate cancer ISO RGD:1312980 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9059046 Mamdc2 MAM domain containing 2 gene DOID:630 genetic disease ISO RGD:1312980 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059074 Hcls1 hematopoietic cell-specific Lyn substrate 1 gene DOID:630 genetic disease ISO RGD:1312380 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059074 Hcls1 hematopoietic cell-specific Lyn substrate 1 gene DOID:7148 rheumatoid arthritis ISO RGD:1312380 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12833524 9059074 Hcls1 hematopoietic cell-specific Lyn substrate 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1312380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 9059074 Hcls1 hematopoietic cell-specific Lyn substrate 1 gene DOID:9270 alkaptonuria ISO RGD:1312380 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9059092 Rbm38 RNA binding motif protein 38 gene DOID:630 genetic disease ISO RGD:1318308 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059092 Rbm38 RNA binding motif protein 38 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1318308 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34453780 9059092 Rbm38 RNA binding motif protein 38 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1318308 D RGD:9068941 20220407 CTD CTD Direct Evidence: therapeutic PMID:34453780 9059103 Ift172 intraflagellar transport 172 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:731569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9059103 Ift172 intraflagellar transport 172 gene DOID:0050651 atrioventricular septal defect ISO RGD:1552058 D RGD:9068941 20220825 MouseDO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 9059103 Ift172 intraflagellar transport 172 gene DOID:0081009 Bardet-Biedl syndrome 20 ISO RGD:731569 D RGD:7240710 20210818 OMIM 9059103 Ift172 intraflagellar transport 172 gene DOID:0081009 Bardet-Biedl syndrome 20 ISO RGD:731569 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 PMID:24140113|PMID:24290075|PMID:25168386|PMID:25741868|PMID:26763875|PMID:28492532|PMID:31587445|PMID:32451492|PMID:34567078 9059103 Ift172 intraflagellar transport 172 gene DOID:0081011 Bardet-Biedl syndrome 22 ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 PMID:24290075|PMID:25741868|PMID:28492532|PMID:31587445|PMID:32451492 9059103 Ift172 intraflagellar transport 172 gene DOID:0110085 asphyxiating thoracic dystrophy 1 ISO RGD:731569 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 PMID:25741868|PMID:28492532 9059103 Ift172 intraflagellar transport 172 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:731569 D RGD:7240710 20180130 OMIM 9059103 Ift172 intraflagellar transport 172 gene DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly ISO RGD:731569 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly PMID:11030072|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24140113|PMID:24290075|PMID:25168386|PMID:25640679|PMID:25664603|PMID:25741868|PMID:26092869|PMID:26893459|PMID:28492532|PMID:28559085|PMID:29068549|PMID:31054281|PMID:31475041|PMID:31587445|PMID:31964843|PMID:32451492|PMID:32783370|PMID:32939031|PMID:33393400|PMID:34567078|PMID:34906470|PMID:9536098 9059103 Ift172 intraflagellar transport 172 gene DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly ISO RGD:731569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:24140113|PMID:25741868|PMID:28492532|PMID:29068549 9059103 Ift172 intraflagellar transport 172 gene DOID:0110123 Bardet-Biedl syndrome 1 ISO RGD:731569 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 9059103 Ift172 intraflagellar transport 172 gene DOID:0110363 retinitis pigmentosa 71 ISO RGD:731569 D RGD:7240710 20180130 OMIM 9059103 Ift172 intraflagellar transport 172 gene DOID:0110363 retinitis pigmentosa 71 ISO RGD:731569 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 71 PMID:16199547|PMID:17576681|PMID:24140113|PMID:25168386|PMID:25741868|PMID:28492532|PMID:32783370|PMID:32939031|PMID:34567078|PMID:9536098 9059103 Ift172 intraflagellar transport 172 gene DOID:0110980 Joubert syndrome 1 ISO RGD:731569 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:24140113|PMID:25741868|PMID:26092869 9059103 Ift172 intraflagellar transport 172 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:731569 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26893459|PMID:28492532 9059103 Ift172 intraflagellar transport 172 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:731569 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9059103 Ift172 intraflagellar transport 172 gene DOID:10584 retinitis pigmentosa ISO RGD:731569 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11030072|PMID:24140113|PMID:25664603|PMID:25741868|PMID:28492532|PMID:34906470 9059103 Ift172 intraflagellar transport 172 gene DOID:12712 nephronophthisis ISO RGD:731569 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868 9059103 Ift172 intraflagellar transport 172 gene DOID:14679 VACTERL association ISO RGD:1552058 D RGD:9068941 20220825 MouseDO OMIM:192350 | OMIM:276950 9059103 Ift172 intraflagellar transport 172 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:731569 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:24033266|PMID:24140113|PMID:25168386|PMID:25741868|PMID:28492532 9059103 Ift172 intraflagellar transport 172 gene DOID:630 genetic disease ISO RGD:731569 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24140113|PMID:25741868|PMID:28492532|PMID:31475041|PMID:34906470 9059103 Ift172 intraflagellar transport 172 gene DOID:8466 retinal degeneration ISO RGD:1552058 D RGD:9068941 20220825 MouseDO 9059103 Ift172 intraflagellar transport 172 gene DOID:8501 fundus dystrophy ISO RGD:731569 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24140113|PMID:25741868|PMID:28492532|PMID:28559085 9059103 Ift172 intraflagellar transport 172 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:731569 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:28492532 9059103 Ift172 intraflagellar transport 172 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731569 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 9059159 Marchf11 membrane associated ring-CH-type finger 11 gene DOID:630 genetic disease ISO RGD:1642105 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059159 Marchf11 membrane associated ring-CH-type finger 11 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1642105 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9059176 Disc1 DISC1 scaffold protein gene DOID:0050432 Asperger syndrome ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17579608 9059176 Disc1 DISC1 scaffold protein gene DOID:0050432 Asperger syndrome susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNPs: : PMID:18317464|REF_RGD_ID:5509836 9059176 Disc1 DISC1 scaffold protein gene DOID:0070085 schizophrenia 9 susceptibility ISO RGD:736704 D RGD:7240710 20190502 OMIM 9059176 Disc1 DISC1 scaffold protein gene DOID:1059 intellectual disability ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20002455 9059176 Disc1 DISC1 scaffold protein gene DOID:12849 autistic disorder ISO RGD:736704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9059176 Disc1 DISC1 scaffold protein gene DOID:12849 autistic disorder susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:polymorphism:microsatellite: PMID:18317464|REF_RGD_ID:5509836 9059176 Disc1 DISC1 scaffold protein gene DOID:1470 major depressive disorder ISO RGD:736704 D RGD:9068941 20200609 RGD protein:altered expression:orbitofrontal cortex PMID:15657124|REF_RGD_ID:5509834 9059176 Disc1 DISC1 scaffold protein gene DOID:1470 major depressive disorder susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNP:Cds:p.S704C(human) PMID:16959794|REF_RGD_ID:5509832 9059176 Disc1 DISC1 scaffold protein gene DOID:1540 parathyroid carcinoma ISO RGD:736704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9059176 Disc1 DISC1 scaffold protein gene DOID:1595 melancholic depression ISO RGD:1332081 D RGD:9068941 20220825 MouseDO OMIM:608516 9059176 Disc1 DISC1 scaffold protein gene DOID:1596 depressive disorder ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29643356 9059176 Disc1 DISC1 scaffold protein gene DOID:2030 anxiety disorder ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29643356 9059176 Disc1 DISC1 scaffold protein gene DOID:2468 psychotic disorder ISO RGD:736704 D RGD:9068941 20200609 RGD PMID:10814723|REF_RGD_ID:5509828 9059176 Disc1 DISC1 scaffold protein gene DOID:2468 psychotic disorder susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:15386212|REF_RGD_ID:5509833 9059176 Disc1 DISC1 scaffold protein gene DOID:303 substance-related disorder severity ISO RGD:736704 D RGD:9068941 20200609 RGD protein:altered expression:orbitofrontal cortex PMID:15657124|REF_RGD_ID:5509834 9059176 Disc1 DISC1 scaffold protein gene DOID:3312 bipolar disorder ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1538979, rs821577, rs821633 (human) PMID:18317464|REF_RGD_ID:5509836 9059176 Disc1 DISC1 scaffold protein gene DOID:3312 bipolar disorder ISO RGD:736704 D RGD:9068941 20200609 RGD DNA;SNPs: :rs2738864,rs16841582 (human) PMID:21222298|REF_RGD_ID:5509829 9059176 Disc1 DISC1 scaffold protein gene DOID:3312 bipolar disorder susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:15386212|REF_RGD_ID:5509833 9059176 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:1332081 D RGD:9068941 20220825 MouseDO OMIM:181500 9059176 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20531374|PMID:20561508 9059176 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200609 RGD PMID:10814723|REF_RGD_ID:5509828 9059176 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNP:cds:rs6675281(human) PMID:20505556|REF_RGD_ID:5509830 9059176 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNPs: :rs1538979, rs821577, rs821633(human) PMID:18317464|REF_RGD_ID:5509836 9059176 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia ISO RGD:736704 D RGD:9068941 20200609 RGD protein:altered expression:orbitofrontal cortex PMID:15657124|REF_RGD_ID:5509834 9059176 Disc1 DISC1 scaffold protein gene DOID:5419 schizophrenia susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:15386212|REF_RGD_ID:5509833 9059176 Disc1 DISC1 scaffold protein gene DOID:630 genetic disease ISO RGD:736704 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059176 Disc1 DISC1 scaffold protein gene DOID:8544 chronic fatigue syndrome susceptibility ISO RGD:736704 D RGD:9068941 20200609 RGD DNA:SNP:Cds:p.S704C(human) PMID:20227423|REF_RGD_ID:5509831 9059176 Disc1 DISC1 scaffold protein gene DOID:9000641 Pain ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20561508 9059176 Disc1 DISC1 scaffold protein gene DOID:9002362 Hyperkinesis ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26754951 9059176 Disc1 DISC1 scaffold protein gene DOID:9007077 Actin-Accumulation Myopathy ISO RGD:736704 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:28492532 9059176 Disc1 DISC1 scaffold protein gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736704 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9059176 Disc1 DISC1 scaffold protein gene DOID:9923 developmental coordination disorder ISO RGD:736704 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26754951 9059206 Ccnh cyclin H gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:69470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9059206 Ccnh cyclin H gene DOID:0111563 Sturge-Weber syndrome ISO RGD:69470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:25741868|PMID:28492532 9059206 Ccnh cyclin H gene DOID:0111563 Sturge-Weber syndrome ISO RGD:69470 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Parkes Weber syndrome PMID:24038909|PMID:25326637|PMID:25741868|PMID:27081547|PMID:28492532|PMID:28655553|PMID:29891884 9059206 Ccnh cyclin H gene DOID:1270 hereditary hemorrhagic telangiectasia ISO RGD:69470 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:18446851|PMID:24038909|PMID:25741868|PMID:28295764|PMID:28492532|PMID:29891884 9059206 Ccnh cyclin H gene DOID:224 transient cerebral ischemia ISO RGD:69419 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hippocampus PMID:10501206|REF_RGD_ID:69371 9059206 Ccnh cyclin H gene DOID:2513 basal cell carcinoma ISO RGD:69470 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:18446851|PMID:24038909|PMID:25741868|PMID:28492532|PMID:29891884|PMID:8275088 9059206 Ccnh cyclin H gene DOID:2926 Klippel-Trenaunay syndrome ISO RGD:69470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome 9059206 Ccnh cyclin H gene DOID:305 carcinoma ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 9059206 Ccnh cyclin H gene DOID:3068 glioblastoma ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9059206 Ccnh cyclin H gene DOID:3908 lung non-small cell carcinoma ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9059206 Ccnh cyclin H gene DOID:630 genetic disease ISO RGD:69470 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9059206 Ccnh cyclin H gene DOID:9000039 Spinal Cord Injuries ISO RGD:69419 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:spinal cord PMID:21710280|REF_RGD_ID:9590263 9059206 Ccnh cyclin H gene DOID:9000081 Lymphatic Metastasis ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9059206 Ccnh cyclin H gene DOID:9000117 Esophageal Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9059206 Ccnh cyclin H gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 9059206 Ccnh cyclin H gene DOID:9002304 Prostatic Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9059206 Ccnh cyclin H gene DOID:9002762 Ovarian Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9059206 Ccnh cyclin H gene DOID:9002928 Colonic Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9059206 Ccnh cyclin H gene DOID:9003191 Vascular Malformations ISO RGD:69470 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Vascular malformation PMID:18363760|PMID:18446851|PMID:24038909|PMID:25040287|PMID:25741868|PMID:28492532|PMID:29891884 9059206 Ccnh cyclin H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9059206 Ccnh cyclin H gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69419 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:12606953|REF_RGD_ID:9590264 9059206 Ccnh cyclin H gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12606953 9059206 Ccnh cyclin H gene DOID:9005469 Capillary Malformation-Arteriovenous Malformation ISO RGD:69470 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome PMID:14639529|PMID:16199547|PMID:17576681|PMID:18446851|PMID:22200646|PMID:23164092|PMID:23650393|PMID:23687085|PMID:24038909|PMID:24139535|PMID:25326637|PMID:25741868|PMID:26499346|PMID:27081547|PMID:27535533|PMID:28295764|PMID:28492532|PMID:28655553|PMID:29024832|PMID:29120072|PMID:29891884|PMID:30026675|PMID:30120215|PMID:35209959|PMID:9536098 9059206 Ccnh cyclin H gene DOID:9006290 Central Nervous System Venous Angioma ISO RGD:69470 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral venous angioma PMID:23650393|PMID:25741868|PMID:31680349 9059206 Ccnh cyclin H gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:69470 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9059206 Ccnh cyclin H gene DOID:9007188 Liver Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9059206 Ccnh cyclin H gene DOID:9007729 Multiple Basal Cell Carcinoma ISO RGD:69470 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, multiple PMID:24038909|PMID:25741868|PMID:28492532 9059206 Ccnh cyclin H gene DOID:9008640 Capillary Malformation-Arteriovenous Malformation 1 ISO RGD:69470 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 PMID:14639529|PMID:16199547|PMID:18363760|PMID:18446851|PMID:23164092|PMID:24038909|PMID:25040287|PMID:25326637|PMID:25741868|PMID:26499346|PMID:27081547|PMID:27535533|PMID:28492532|PMID:28655553|PMID:29891884 9059206 Ccnh cyclin H gene DOID:9008660 Infantile Capillary Hemangioma ISO RGD:69470 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Capillary infantile hemangioma PMID:25741868 9059206 Ccnh cyclin H gene DOID:9008939 Breast Neoplasms ISO RGD:69470 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30705370 9059226 Btc betacellulin gene DOID:10754 otitis media ISO RGD:620275 D RGD:9068941 20200609 RGD mRNA:decreased expression:middle ear PMID:12148846|REF_RGD_ID:2306978 9059226 Btc betacellulin gene DOID:13270 erythropoietic protoporphyria ISO RGD:736353 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19267999 9059226 Btc betacellulin gene DOID:3892 insulinoma ISO RGD:736353 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:10724350|REF_RGD_ID:2326087 9059226 Btc betacellulin gene DOID:630 genetic disease ISO RGD:736353 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059226 Btc betacellulin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:733574 D RGD:9068941 20200609 RGD PMID:19819964|REF_RGD_ID:2313774 9059226 Btc betacellulin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736353 D RGD:9068941 20200609 RGD PMID:14988244|PMID:18388935|REF_RGD_ID:1357906|REF_RGD_ID:2306965 9059226 Btc betacellulin gene DOID:9007821 Glucagonoma ISO RGD:736353 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:10724350|REF_RGD_ID:2326087 9059226 Btc betacellulin gene DOID:9352 type 2 diabetes mellitus ISO RGD:736353 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-226A/G (human) PMID:16306376|REF_RGD_ID:2306967 9059226 Btc betacellulin gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:736353 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.C7G (human) PMID:15793259|REF_RGD_ID:2306973 9059226 Btc betacellulin gene DOID:9744 type 1 diabetes mellitus susceptibility ISO RGD:736353 D RGD:9068941 20200609 RGD DNA:polymorphism:intron:IVS4-4C>T (human) PMID:16683131|REF_RGD_ID:2306966 9059236 Rps13 ribosomal protein S13 gene DOID:1059 intellectual disability ISO RGD:737303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9059236 Rps13 ribosomal protein S13 gene DOID:630 genetic disease ISO RGD:737303 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059253 Rspo4 R-spondin 4 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1344766 D RGD:7240710 20190123 OMIM 9059253 Rspo4 R-spondin 4 gene DOID:0080082 nonsyndromic congenital nail disorder 4 ISO RGD:1344766 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Anonychia PMID:17041604|PMID:17186469|PMID:17914448|PMID:18070203|PMID:25741868|PMID:4702713 9059253 Rspo4 R-spondin 4 gene DOID:630 genetic disease ISO RGD:1344766 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9059263 Cldn22 claudin 22 gene DOID:630 genetic disease ISO RGD:1349320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059268 Dkk3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:0050770 polycystic liver disease ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 9059268 Dkk3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:1059 intellectual disability ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9059268 Dkk3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:630 genetic disease ISO RGD:1353433 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059268 Dkk3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 9059268 Dkk3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1353433 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 9059268 Dkk3 dickkopf WNT signaling pathway inhibitor 3 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1353433 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9059283 Bltp3a bridge-like lipid transfer protein family member 3A gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1316354 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9059283 Bltp3a bridge-like lipid transfer protein family member 3A gene DOID:630 genetic disease ISO RGD:1316354 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059283 Bltp3a bridge-like lipid transfer protein family member 3A gene DOID:9005539 Familial Prostate Cancer ISO RGD:1316354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 9059283 Bltp3a bridge-like lipid transfer protein family member 3A gene DOID:9074 systemic lupus erythematosus ISO RGD:1316354 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 9059309 Myoz3 myozenin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1318422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9059309 Myoz3 myozenin 3 gene DOID:630 genetic disease ISO RGD:1318422 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059309 Myoz3 myozenin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1318422 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9059329 Kctd1 potassium channel tetramerization domain containing 1 gene DOID:0111550 scalp-ear-nipple syndrome ISO RGD:1352985 D RGD:7240710 20180130 OMIM 9059329 Kctd1 potassium channel tetramerization domain containing 1 gene DOID:0111550 scalp-ear-nipple syndrome ISO RGD:1352985 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scalp-ear-nipple syndrome PMID:10517259|PMID:16411189|PMID:1799422|PMID:23541344|PMID:25741868|PMID:28492532|PMID:8042668|PMID:9383029 9059329 Kctd1 potassium channel tetramerization domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1352985 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9059329 Kctd1 potassium channel tetramerization domain containing 1 gene DOID:630 genetic disease ISO RGD:1352985 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9059391 Wdr72 WD repeat domain 72 gene DOID:0110056 amelogenesis imperfecta type 1C ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive PMID:25741868 9059391 Wdr72 WD repeat domain 72 gene DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 ISO RGD:1602418 D RGD:7240710 20180130 OMIM 9059391 Wdr72 WD repeat domain 72 gene DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 ISO RGD:1602418 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 PMID:19853237|PMID:20938048|PMID:24033266|PMID:25741868|PMID:30028003|PMID:33033857 9059391 Wdr72 WD repeat domain 72 gene DOID:14219 renal tubular acidosis ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 9059391 Wdr72 WD repeat domain 72 gene DOID:2187 amelogenesis imperfecta ISO RGD:1602418 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta PMID:24033266|PMID:25741868 9059391 Wdr72 WD repeat domain 72 gene DOID:2717 Bloom syndrome ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9059391 Wdr72 WD repeat domain 72 gene DOID:607 paraplegia ISO RGD:1602418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 9059391 Wdr72 WD repeat domain 72 gene DOID:630 genetic disease ISO RGD:1602418 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9059391 Wdr72 WD repeat domain 72 gene DOID:9001458 Hypophosphatemic Rickets ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets PMID:31959358 9059391 Wdr72 WD repeat domain 72 gene DOID:9007406 Distal Renal Tubular Acidosis ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal renal tubular acidosis PMID:31959358 9059391 Wdr72 WD repeat domain 72 gene DOID:9007818 Distal Renal Tubular Acidosis 4 with Hemolytic Anemia ISO RGD:1602418 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia PMID:25741868|PMID:30028003 9059391 Wdr72 WD repeat domain 72 gene DOID:9256 colorectal cancer ISO RGD:1602418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9059415 Slc25a24 solute carrier family 25 member 24 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1607032 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 9059415 Slc25a24 solute carrier family 25 member 24 gene DOID:12849 autistic disorder ISO RGD:1607032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9059415 Slc25a24 solute carrier family 25 member 24 gene DOID:1307 dementia ISO RGD:1607032 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Dementia PMID:25741868 9059415 Slc25a24 solute carrier family 25 member 24 gene DOID:630 genetic disease ISO RGD:1607032 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9059415 Slc25a24 solute carrier family 25 member 24 gene DOID:7725 epilepsy with generalized tonic-clonic seizures ISO RGD:1607032 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized tonic-clonic seizures PMID:25741868 9059415 Slc25a24 solute carrier family 25 member 24 gene DOID:9000279 Congenital Progeroid Syndrome, Petty Type ISO RGD:1607032 D RGD:7240710 20190315 OMIM 9059415 Slc25a24 solute carrier family 25 member 24 gene DOID:9000279 Congenital Progeroid Syndrome, Petty Type ISO RGD:1607032 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fontaine progeroid syndrome PMID:10215548|PMID:10594888|PMID:19731360|PMID:21216154|PMID:25741868|PMID:28492532|PMID:29100093|PMID:29100094 9059415 Slc25a24 solute carrier family 25 member 24 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1607032 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9059429 Ppp1r1c protein phosphatase 1 regulatory inhibitor subunit 1C gene DOID:630 genetic disease ISO RGD:1351328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059445 Zbtb39 zinc finger and BTB domain containing 39 gene DOID:630 genetic disease ISO RGD:1605102 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059451 Tapbpl TAP binding protein like gene DOID:0050772 spastic ataxia 1 ISO RGD:1317352 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia 1 PMID:11774073|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28492532 9059451 Tapbpl TAP binding protein like gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1317352 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9059451 Tapbpl TAP binding protein like gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9059451 Tapbpl TAP binding protein like gene DOID:0111621 Temtamy syndrome ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9059451 Tapbpl TAP binding protein like gene DOID:3635 congenital myasthenic syndrome ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:28253535 9059451 Tapbpl TAP binding protein like gene DOID:607 paraplegia ISO RGD:1317352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:11774073|PMID:17576681|PMID:22958904|PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:30293248|PMID:33631708|PMID:9536098 9059451 Tapbpl TAP binding protein like gene DOID:630 genetic disease ISO RGD:1317352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059451 Tapbpl TAP binding protein like gene DOID:9004718 Congenital Myasthenic Syndrome 25 ISO RGD:1317352 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic PMID:25741868|PMID:26467025|PMID:28168212|PMID:28253535|PMID:28492532|PMID:28600779 9059451 Tapbpl TAP binding protein like gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9059451 Tapbpl TAP binding protein like gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1317352 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9059477 Trmo tRNA methyltransferase O gene DOID:0050571 congenital disorder of glycosylation type II ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:20813212|PMID:28492532 9059477 Trmo tRNA methyltransferase O gene DOID:0080561 congenital disorder of glycosylation Ii ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:20813212|PMID:28492532 9059477 Trmo tRNA methyltransferase O gene DOID:0110669 congenital myasthenic syndrome 14 ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates PMID:20813212|PMID:28492532 9059477 Trmo tRNA methyltransferase O gene DOID:1059 intellectual disability ISO RGD:1313441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9059477 Trmo tRNA methyltransferase O gene DOID:12712 nephronophthisis ISO RGD:1313441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 9059477 Trmo tRNA methyltransferase O gene DOID:14004 thoracic aortic aneurysm ISO RGD:1313441 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20813212|PMID:28492532 9059477 Trmo tRNA methyltransferase O gene DOID:630 genetic disease ISO RGD:1313441 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059477 Trmo tRNA methyltransferase O gene DOID:9001793 Generalized Epilepsy ISO RGD:1313441 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:28492532 9059486 Rpl8 ribosomal protein L8 gene DOID:630 genetic disease ISO RGD:735772 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059499 Znf628 zinc finger protein 628 gene DOID:630 genetic disease ISO RGD:1606755 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059516 Otog otogelin gene DOID:0050563 nonsyndromic deafness ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:24033266 9059516 Otog otogelin gene DOID:0050565 autosomal recessive nonsyndromic deafness ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:30303587 9059516 Otog otogelin gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1315323 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 9059516 Otog otogelin gene DOID:0110474 autosomal recessive nonsyndromic deafness 18B ISO RGD:1315323 D RGD:7240710 20180130 OMIM 9059516 Otog otogelin gene DOID:0110474 autosomal recessive nonsyndromic deafness 18B ISO RGD:1315323 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition PMID:10655058|PMID:16199547|PMID:17576681|PMID:23122587|PMID:24033266|PMID:24378291|PMID:25741868|PMID:26467025|PMID:28050010|PMID:28492532|PMID:29196752|PMID:29907799|PMID:30139988|PMID:30311386|PMID:31152317|PMID:31645975|PMID:31827275|PMID:32048449|PMID:33223529|PMID:35802133|PMID:36633841|PMID:9536098 9059516 Otog otogelin gene DOID:0111447 progressive myoclonus epilepsy 7 ISO RGD:1315323 D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 PMID:28492532 9059516 Otog otogelin gene DOID:1059 intellectual disability ISO RGD:1315323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799 9059516 Otog otogelin gene DOID:1826 epilepsy ISO RGD:1315323 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizure PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799 9059516 Otog otogelin gene DOID:9004538 Hearing Loss ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss PMID:24033266|PMID:28492532|PMID:30311386|PMID:32048449 9059516 Otog otogelin gene DOID:9008681 Deafness ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness PMID:30303587 9059516 Otog otogelin gene DOID:9849 Meniere's disease ISO RGD:1315323 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:17576681|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28945198|PMID:9536098 9059575 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9059575 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:0070194 autosomal recessive chronic granulomatous disease 3 ISO RGD:1348418 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:28492532 9059575 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:0090036 myoclonic dystonia 26 ISO RGD:1348418 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9059575 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9059575 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:1348418 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9059575 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:2316 brain ischemia ISO RGD:620189 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:7643220|REF_RGD_ID:632531 9059575 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:2841 asthma ISO RGD:620189 D RGD:9068941 20200609 RGD PMID:17145927|REF_RGD_ID:1601020 9059575 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:630 genetic disease ISO RGD:1348418 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 9059575 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:9007475 Pulmonary Surfactant Metabolism Dysfunction 5 ISO RGD:1348418 D RGD:7240710 20180130 OMIM 9059575 Csf2rb colony stimulating factor 2 receptor subunit beta gene DOID:9007475 Pulmonary Surfactant Metabolism Dysfunction 5 ISO RGD:1348418 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5 PMID:21075760|PMID:21205713|PMID:25741868|PMID:27118405|PMID:28492532 9059602 Rfwd3 ring finger and WD repeat domain 3 gene DOID:607 paraplegia ISO RGD:1349611 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 9059602 Rfwd3 ring finger and WD repeat domain 3 gene DOID:630 genetic disease ISO RGD:1349611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9059602 Rfwd3 ring finger and WD repeat domain 3 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:1349611 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23666239 9059602 Rfwd3 ring finger and WD repeat domain 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349611 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9059602 Rfwd3 ring finger and WD repeat domain 3 gene DOID:9009064 Fanconi Anemia Complementation Group W ISO RGD:1349611 D RGD:7240710 20190315 OMIM 9059602 Rfwd3 ring finger and WD repeat domain 3 gene DOID:9009064 Fanconi Anemia Complementation Group W ISO RGD:1349611 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group W PMID:25741868|PMID:26474068|PMID:28492532|PMID:28691929|PMID:33044890 9059633 Arsb arylsulfatase B gene DOID:0060041 autism spectrum disorder ISO RGD:737370 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9059633 Arsb arylsulfatase B gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:737370 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 9059633 Arsb arylsulfatase B gene DOID:10581 metachromatic leukodystrophy ISO RGD:737370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10923267|PMID:11939792|PMID:14974081|PMID:1550123|PMID:16435196|PMID:17458871|PMID:17643332|PMID:18406185|PMID:21514195|PMID:21791832|PMID:21917494|PMID:22133300|PMID:22441840|PMID:23557332|PMID:23657977|PMID:24221504|PMID:24373060|PMID:24767253|PMID:25741868|PMID:28492532|PMID:30118150|PMID:8116615|PMID:8651289 9059633 Arsb arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737370 D RGD:7240710 20180130 OMIM 9059633 Arsb arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI ISO RGD:737370 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe PMID:10036316|PMID:10206678|PMID:10738004|PMID:10923267|PMID:11668612|PMID:11802522|PMID:11939792|PMID:1301949|PMID:14974081|PMID:15000815|PMID:1550123|PMID:15603718|PMID:15979036|PMID:16199547|PMID:16435196|PMID:16949067|PMID:17161971|PMID:1718978|PMID:17458871|PMID:17576681|PMID:17643332|PMID:17672828|PMID:18406185|PMID:18486607|PMID:19259130|PMID:19763152|PMID:19968667|PMID:20143913|PMID:20307669|PMID:21514195|PMID:21791831|PMID:21791832|PMID:21813902|PMID:21917494|PMID:21930407|PMID:21996138|PMID:22133300|PMID:22406018|PMID:22441840|PMID:22971959|PMID:22976768|PMID:23023219|PMID:23430861|PMID:23458163|PMID:23557332|PMID:23633437|PMID:23657977|PMID:23855929|PMID:23949968|PMID:24033266|PMID:24053568|PMID:24107440|PMID:24221504|PMID:24243352|PMID:24262793|PMID:24373060|PMID:24677745|PMID:24767253|PMID:24798265|PMID:24875751|PMID:25060283|PMID:25190157|PMID:25640679|PMID:25654180|PMID:25741868|PMID:25797215|PMID:26287674|PMID:26450354|PMID:26586959|PMID:26609033|PMID:26909334|PMID:26910003|PMID:26937411|PMID:27797586|PMID:27826022|PMID:28492532|PMID:28552677|PMID:28649537|PMID:28831385|PMID:28858097|PMID:28884960|PMID:28914427|PMID:29202552|PMID:30083803|PMID:30118150|PMID:30524696|PMID:30809705|PMID:30982216|PMID:31009684|PMID:32075597|PMID:32860008|PMID:33163362|PMID:33209960|PMID:33673364|PMID:33985463|PMID:34435740|PMID:34708937|PMID:34813777|PMID:35005816|PMID:4974081|PMID:7733883|PMID:8116615|PMID:8125475|PMID:8144552|PMID:8541342|PMID:8651289|PMID:8723688|PMID:8752530|PMID:9536098 9059633 Arsb arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI susceptibility ISO RGD:2158 D RGD:9068941 20200609 RGD PMID:8575749|REF_RGD_ID:631738 9059633 Arsb arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI susceptibility ISO RGD:737370 D RGD:9068941 20200609 RGD PMID:1550123|REF_RGD_ID:1599228 9059633 Arsb arylsulfatase B gene DOID:12800 mucopolysaccharidosis VI treatment ISO RGD:2158 D RGD:9068941 20201001 RGD PMID:21887218|REF_RGD_ID:39131283 9059633 Arsb arylsulfatase B gene DOID:5419 schizophrenia ISO RGD:737370 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9059633 Arsb arylsulfatase B gene DOID:630 genetic disease ISO RGD:737370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17458871|PMID:23557332|PMID:25741868|PMID:28492532|PMID:28552677|PMID:30118150 9059633 Arsb arylsulfatase B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:737370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9059646 Pusl1 pseudouridine synthase like 1 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9059646 Pusl1 pseudouridine synthase like 1 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1353807 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome PMID:25741868 9059646 Pusl1 pseudouridine synthase like 1 gene DOID:0060481 Goldberg-Shprintzen syndrome ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9059646 Pusl1 pseudouridine synthase like 1 gene DOID:0081157 dilated cardiomyopathy 1LL ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 8 PMID:28492532 9059646 Pusl1 pseudouridine synthase like 1 gene DOID:0110657 congenital myasthenic syndrome 8 ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:24951643|PMID:28492532 9059646 Pusl1 pseudouridine synthase like 1 gene DOID:0110994 Joubert syndrome 25 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Joubert syndrome 25 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9059646 Pusl1 pseudouridine synthase like 1 gene DOID:0111934 immunodeficiency 38 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9059646 Pusl1 pseudouridine synthase like 1 gene DOID:0111935 immunodeficiency 16 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9059646 Pusl1 pseudouridine synthase like 1 gene DOID:630 genetic disease ISO RGD:1353807 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059646 Pusl1 pseudouridine synthase like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9059646 Pusl1 pseudouridine synthase like 1 gene DOID:9007185 Shprintzen-Goldberg Craniosynostosis ISO RGD:1353807 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 9059646 Pusl1 pseudouridine synthase like 1 gene DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 ISO RGD:1353807 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594 9059663 Wwox WW domain containing oxidoreductase gene DOID:0050562 West syndrome ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297 9059663 Wwox WW domain containing oxidoreductase gene DOID:0050562 West syndrome ISO RGD:1320534 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive PMID:25411445|PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30362252|PMID:30853297 9059663 Wwox WW domain containing oxidoreductase gene DOID:0060041 autism spectrum disorder ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:27569545 9059663 Wwox WW domain containing oxidoreductase gene DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ISO RGD:1320534 D RGD:7240710 20180130 OMIM 9059663 Wwox WW domain containing oxidoreductase gene DOID:0080060 autosomal recessive spinocerebellar ataxia 12 ISO RGD:1320534 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY PMID:11572989|PMID:16199547|PMID:17470496|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24369382|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25612104|PMID:25741868|PMID:26467025|PMID:27717089|PMID:27884173|PMID:27959697|PMID:28492532|PMID:29358611|PMID:29675105|PMID:29808465|PMID:29852413|PMID:29905011|PMID:30356099|PMID:30853297|PMID:31216405|PMID:32214227|PMID:35573960|PMID:9536098 9059663 Wwox WW domain containing oxidoreductase gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1320534 D RGD:7240710 20180130 OMIM 9059663 Wwox WW domain containing oxidoreductase gene DOID:0080452 developmental and epileptic encephalopathy 28 ISO RGD:1320534 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28 PMID:11572989|PMID:16199547|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25612104|PMID:25741868|PMID:26467025|PMID:27717089|PMID:27848944|PMID:27884173|PMID:28492532|PMID:29358611|PMID:29675105|PMID:29808465|PMID:29852413|PMID:29905011|PMID:30356099|PMID:30746283|PMID:30853297|PMID:30919572|PMID:31216405|PMID:31618474|PMID:31623504|PMID:35573960|PMID:9536098 9059663 Wwox WW domain containing oxidoreductase gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:1320534 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms PMID:11572989|PMID:11956080|PMID:16199547|PMID:17576681|PMID:20480411|PMID:21983861|PMID:24082139|PMID:24369382|PMID:24456803|PMID:25403906|PMID:25411445|PMID:25558065|PMID:25612104|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26467025|PMID:27495153|PMID:27569545|PMID:27717089|PMID:27848944|PMID:27884173|PMID:27959697|PMID:28130116|PMID:28492532|PMID:29358611|PMID:29390993|PMID:29675105|PMID:29808465|PMID:29852413|PMID:29905011|PMID:30356099|PMID:30746283|PMID:30853297|PMID:30919572|PMID:31130284|PMID:31216405|PMID:31618474|PMID:31623504|PMID:31780880|PMID:31957018|PMID:35573960|PMID:35701389|PMID:9536098 9059663 Wwox WW domain containing oxidoreductase gene DOID:0110256 cataract 21 multiple types ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:28492532 9059663 Wwox WW domain containing oxidoreductase gene DOID:1059 intellectual disability ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9059663 Wwox WW domain containing oxidoreductase gene DOID:10652 Alzheimer's disease ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30820047 9059663 Wwox WW domain containing oxidoreductase gene DOID:13374 fibrodysplasia ossificans progressiva ISO RGD:1320534 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Progressive myositis ossificans PMID:25741868 9059663 Wwox WW domain containing oxidoreductase gene DOID:1749 squamous cell carcinoma ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17575124 9059663 Wwox WW domain containing oxidoreductase gene DOID:1749 squamous cell carcinoma ISO RGD:1320534 D RGD:9068941 20200609 RGD esophageal squamous cell carcinoma, OMIM:133239 PMID:11956080|REF_RGD_ID:1599874 9059663 Wwox WW domain containing oxidoreductase gene DOID:1826 epilepsy ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9059663 Wwox WW domain containing oxidoreductase gene DOID:1923 disorder of sexual development ISO RGD:1320534 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 9059663 Wwox WW domain containing oxidoreductase gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 9059663 Wwox WW domain containing oxidoreductase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1320534 D RGD:7240710 20240207 OMIM 9059663 Wwox WW domain containing oxidoreductase gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:1320534 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic PMID:11956080|PMID:28492532 9059663 Wwox WW domain containing oxidoreductase gene DOID:5041 esophageal cancer ISO RGD:1320534 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Esophagus cancer PMID:24456803|PMID:25411445|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29808465|PMID:30356099|PMID:30853297|PMID:35573960 9059663 Wwox WW domain containing oxidoreductase gene DOID:5419 schizophrenia ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9059663 Wwox WW domain containing oxidoreductase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 9059663 Wwox WW domain containing oxidoreductase gene DOID:630 genetic disease ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24456803|PMID:25411445|PMID:25741868|PMID:26467025|PMID:28492532 9059663 Wwox WW domain containing oxidoreductase gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9059663 Wwox WW domain containing oxidoreductase gene DOID:9000117 Esophageal Neoplasms ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9059663 Wwox WW domain containing oxidoreductase gene DOID:9000217 Stomach Neoplasms ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17575124 9059663 Wwox WW domain containing oxidoreductase gene DOID:9001793 Generalized Epilepsy ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:24456803|PMID:25411445|PMID:25741868|PMID:27848944|PMID:28492532|PMID:31623504 9059663 Wwox WW domain containing oxidoreductase gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9059663 Wwox WW domain containing oxidoreductase gene DOID:9002563 Gait Ataxia ISO RGD:1309927 D RGD:9068941 20211022 RGD compared to wild type and heterozygotes PMID:17803050|REF_RGD_ID:150429978 9059663 Wwox WW domain containing oxidoreductase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320534 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorders 9059663 Wwox WW domain containing oxidoreductase gene DOID:9004643 Urologic Neoplasms ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23618899 9059663 Wwox WW domain containing oxidoreductase gene DOID:9006534 Nervous System Malformations ISO RGD:1320534 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:25741868|PMID:28492532|PMID:29808465|PMID:30356099|PMID:30853297 9059663 Wwox WW domain containing oxidoreductase gene DOID:9007661 Dwarfism ISO RGD:1309927 D RGD:9068941 20211008 RGD DNA:deletion:cds:exon 9, 13bp nucleotides 1190-1202 PMID:19500159|REF_RGD_ID:150429979 9059663 Wwox WW domain containing oxidoreductase gene DOID:9007661 Dwarfism ISO RGD:1309927 D RGD:9068941 20211022 RGD compared to wild type and heterozygotes PMID:17803050|PMID:18676360|REF_RGD_ID:150429974|REF_RGD_ID:150429978 9059663 Wwox WW domain containing oxidoreductase gene DOID:9008086 Developmental Disabilities ISO RGD:1320534 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay PMID:16199547|PMID:24456803|PMID:25411445|PMID:25558065|PMID:25741868|PMID:27717089|PMID:28492532|PMID:29852413|PMID:36937954 9059663 Wwox WW domain containing oxidoreductase gene DOID:9008939 Breast Neoplasms ISO RGD:1320534 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17200365 9059681 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:0050990 episodic ataxia type 2 ISO RGD:1321146 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 9059681 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1321146 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9059681 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:0111254 glutaric acidemia I ISO RGD:1321146 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10371528|PMID:10699052|PMID:11854167|PMID:16602100|PMID:19486177|PMID:25735478|PMID:27250579|PMID:28492532 9059681 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:3413 alpha-mannosidosis ISO RGD:1321146 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9059681 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:630 genetic disease ISO RGD:1321146 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059681 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:9001670 Rajab Interstitial Lung Disease with Brain Calcifications 2 ISO RGD:1321146 D RGD:7240710 20200930 OMIM 9059681 Farsa phenylalanyl-tRNA synthetase subunit alpha gene DOID:9001670 Rajab Interstitial Lung Disease with Brain Calcifications 2 ISO RGD:1321146 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 PMID:25741868|PMID:31355908 9059698 Snx12 sorting nexin 12 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9059698 Snx12 sorting nexin 12 gene DOID:12849 autistic disorder ISO RGD:1350610 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9059698 Snx12 sorting nexin 12 gene DOID:630 genetic disease ISO RGD:1350610 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059698 Snx12 sorting nexin 12 gene DOID:9007898 FG Syndrome 1 ISO RGD:1350610 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:0060857 septooptic dysplasia ISO RGD:733697 D RGD:9068941 20200609 RGD PMID:27935818|REF_RGD_ID:12801420 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345886 D RGD:7240710 20180130 OMIM 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:0110877 holoprosencephaly 11 ISO RGD:1345886 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:16199547|PMID:17576681|PMID:20301702|PMID:21802063|PMID:25741868|PMID:26529631|PMID:26728615|PMID:28492532|PMID:31502381|PMID:9536098 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:0110881 holoprosencephaly 1 ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 1 PMID:25741868|PMID:28492532 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:0111723 Jacobsen Syndrome ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:10907 microcephaly ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:12270 coloboma ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:4621 holoprosencephaly ISO RGD:1345886 D RGD:8554872 20221213 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Holoprosencephaly spectrum disorder PMID:20301702|PMID:26728615|PMID:28492532 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:5419 schizophrenia ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:630 genetic disease ISO RGD:1345886 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868|PMID:26529631 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:9007284 Precocious Puberty ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peripheral precocious puberty 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:9007661 Dwarfism ISO RGD:1345886 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9059726 Cdon cell adhesion associated, oncogene regulated gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345886 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 9059749 Riok1 RIO kinase 1 gene DOID:630 genetic disease ISO RGD:1314499 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059770 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:10907 microcephaly ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868|PMID:28492532 9059770 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:1287 cardiovascular system disease ISO RGD:1347280 D RGD:9068941 20230128 RGD DNA:splice-site mutation:cds:IVS26+5G>A (human) PMID:19006206|REF_RGD_ID:155882462 9059770 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:14694 Johanson-Blizzard syndrome ISO RGD:1347280 D RGD:7240710 20180130 OMIM 9059770 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:14694 Johanson-Blizzard syndrome ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Johanson-Blizzard syndrome PMID:16311597|PMID:18553553|PMID:19006206|PMID:23778732|PMID:24033266|PMID:24599544|PMID:25741868|PMID:28492532 9059770 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:1936 atherosclerosis ISO RGD:1347280 D RGD:9068941 20230128 RGD associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human) PMID:33381146|REF_RGD_ID:155882464 9059770 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:2717 Bloom syndrome ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9059770 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:630 genetic disease ISO RGD:1347280 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24599544|PMID:26989884|PMID:28492532 9059770 Ubr1 ubiquitin protein ligase E3 component n-recognin 1 gene DOID:9256 colorectal cancer ISO RGD:1347280 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9059825 Adra1a adrenoceptor alpha 1A gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:736081 D RGD:9068941 20200609 RGD PMID:114750|REF_RGD_ID:5688374 9059825 Adra1a adrenoceptor alpha 1A gene DOID:10763 hypertension ISO RGD:2055 D RGD:9068941 20200609 RGD mRNA:decreased expression:aorta PMID:16371063|REF_RGD_ID:1625770 9059825 Adra1a adrenoceptor alpha 1A gene DOID:10763 hypertension ISO RGD:736081 D RGD:9068941 20200609 RGD PMID:19011682|REF_RGD_ID:5688340 9059825 Adra1a adrenoceptor alpha 1A gene DOID:11612 polycystic ovary syndrome ISO RGD:2055 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:ovary PMID:15795180|REF_RGD_ID:5508374 9059825 Adra1a adrenoceptor alpha 1A gene DOID:13948 bladder neck obstruction ISO RGD:2055 D RGD:9068941 20200609 RGD PMID:20886573|REF_RGD_ID:5688368 9059825 Adra1a adrenoceptor alpha 1A gene DOID:1596 depressive disorder ISO RGD:736082 D RGD:9068941 20200609 RGD PMID:19540213|REF_RGD_ID:5688369 9059825 Adra1a adrenoceptor alpha 1A gene DOID:5082 liver cirrhosis ISO RGD:736081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16782692 9059825 Adra1a adrenoceptor alpha 1A gene DOID:630 genetic disease ISO RGD:736081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059825 Adra1a adrenoceptor alpha 1A gene DOID:684 hepatocellular carcinoma ISO RGD:736081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9059825 Adra1a adrenoceptor alpha 1A gene DOID:9000039 Spinal Cord Injuries ISO RGD:2055 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:16524515|REF_RGD_ID:5688371 9059825 Adra1a adrenoceptor alpha 1A gene DOID:9000998 Brain Injuries ISO RGD:2055 D RGD:9068941 20200609 RGD mRNA:increased expression:frontal cortex PMID:20974230|REF_RGD_ID:5688366 9059825 Adra1a adrenoceptor alpha 1A gene DOID:9002211 Hyperalgesia ISO RGD:2055 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; mRNA:increased expression:dorsal root ganglion PMID:10841349|REF_RGD_ID:5688377 9059825 Adra1a adrenoceptor alpha 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2055 D RGD:9068941 20200609 RGD PMID:17054657|REF_RGD_ID:1625775 9059825 Adra1a adrenoceptor alpha 1A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19133277 9059825 Adra1a adrenoceptor alpha 1A gene DOID:9006024 Hypotension ISO RGD:2055 D RGD:9068941 20200609 RGD PMID:12433595|REF_RGD_ID:1625780 9059825 Adra1a adrenoceptor alpha 1A gene DOID:9006880 Urinary Incontinence ISO RGD:2055 D RGD:9068941 20200609 RGD PMID:16890732|REF_RGD_ID:5688352 9059825 Adra1a adrenoceptor alpha 1A gene DOID:9007174 Ventricular Remodeling ISO RGD:736081 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20668454 9059825 Adra1a adrenoceptor alpha 1A gene DOID:9008023 Memory Disorders ISO RGD:2055 D RGD:9068941 20200609 RGD associated with brain injuries PMID:20974230|REF_RGD_ID:5688366 9059825 Adra1a adrenoceptor alpha 1A gene DOID:9976 heroin dependence susceptibility ISO RGD:736081 D RGD:9068941 20231228 RGD DNA:SNP:exon 4: p.R347C (rs1048101) (human) PMID:33577997|REF_RGD_ID:401940110 9059837 Kel Kell metallo-endopeptidase (Kell blood group) gene DOID:630 genetic disease ISO RGD:1316929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059837 Kel Kell metallo-endopeptidase (Kell blood group) gene DOID:9003879 Vein of Galen Aneurysm ISO RGD:1316929 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Galen vein aneurysm PMID:30578106 9059896 Ankrd35 ankyrin repeat domain 35 gene DOID:14699 thrombocytopenia-absent radius syndrome ISO RGD:1352290 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532 9059896 Ankrd35 ankyrin repeat domain 35 gene DOID:1540 parathyroid carcinoma ISO RGD:1352290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9059896 Ankrd35 ankyrin repeat domain 35 gene DOID:5419 schizophrenia ISO RGD:1352290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9059896 Ankrd35 ankyrin repeat domain 35 gene DOID:630 genetic disease ISO RGD:1352290 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059896 Ankrd35 ankyrin repeat domain 35 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1352290 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9059933 Tshz3 teashirt zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314877 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27668656 9059933 Tshz3 teashirt zinc finger homeobox 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1314878 D RGD:9068941 20220825 MouseDO 9059933 Tshz3 teashirt zinc finger homeobox 3 gene DOID:10283 prostate cancer ISO RGD:1314877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9059933 Tshz3 teashirt zinc finger homeobox 3 gene DOID:630 genetic disease ISO RGD:1314877 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059933 Tshz3 teashirt zinc finger homeobox 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1314877 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9059939 Smc6 structural maintenance of chromosomes 6 gene DOID:630 genetic disease ISO RGD:1322555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059971 Znf280c zinc finger protein 280C gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9059971 Znf280c zinc finger protein 280C gene DOID:12849 autistic disorder ISO RGD:1349297 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9059971 Znf280c zinc finger protein 280C gene DOID:630 genetic disease ISO RGD:1349297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059997 Cirbp cold inducible RNA binding protein gene DOID:0050798 cerebral creatine deficiency syndrome ISO RGD:1343841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:15108290|PMID:28492532 9059997 Cirbp cold inducible RNA binding protein gene DOID:0060041 autism spectrum disorder ISO RGD:1343841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735 9059997 Cirbp cold inducible RNA binding protein gene DOID:5339 cyclic hematopoiesis ISO RGD:1343841 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cyclical neutropenia PMID:28492532 9059997 Cirbp cold inducible RNA binding protein gene DOID:630 genetic disease ISO RGD:1343841 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9059997 Cirbp cold inducible RNA binding protein gene DOID:9001579 Neurogenic Inflammation ISO RGD:1343841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24223948 9059997 Cirbp cold inducible RNA binding protein gene DOID:9002395 Hypothermia severity ISO RGD:620756 D RGD:9068941 20230720 RGD PMID:31271215|REF_RGD_ID:329961299 9059997 Cirbp cold inducible RNA binding protein gene DOID:9007102 Myocardial Ischemia ISO RGD:1343841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9059997 Cirbp cold inducible RNA binding protein gene DOID:9007727 Alcohol-Induced Disorders, Nervous System ISO RGD:1343841 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24223948 9060037 Cds2 CDP-diacylglycerol synthase 2 gene DOID:0090103 Huntington's disease-like 1 ISO RGD:731362 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Huntington disease-like 1 PMID:28492532 9060037 Cds2 CDP-diacylglycerol synthase 2 gene DOID:3981 pantothenate kinase-associated neurodegeneration ISO RGD:731362 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:28492532 9060037 Cds2 CDP-diacylglycerol synthase 2 gene DOID:630 genetic disease ISO RGD:731362 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060053 Tex46 testis expressed 46 gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:7256452 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9060054 Parp9 poly(ADP-ribose) polymerase family member 9 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1347584 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 9060054 Parp9 poly(ADP-ribose) polymerase family member 9 gene DOID:630 genetic disease ISO RGD:1347584 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060054 Parp9 poly(ADP-ribose) polymerase family member 9 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1347584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 9060054 Parp9 poly(ADP-ribose) polymerase family member 9 gene DOID:9270 alkaptonuria ISO RGD:1347584 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9060079 Cd300lf CD300 molecule like family member f gene DOID:630 genetic disease ISO RGD:1603897 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060098 Gucy2f guanylate cyclase 2F, retinal gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:731765 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 9060098 Gucy2f guanylate cyclase 2F, retinal gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9060098 Gucy2f guanylate cyclase 2F, retinal gene DOID:12849 autistic disorder ISO RGD:731765 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9060098 Gucy2f guanylate cyclase 2F, retinal gene DOID:630 genetic disease ISO RGD:731765 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060098 Gucy2f guanylate cyclase 2F, retinal gene DOID:8466 retinal degeneration ISO RGD:731766 D RGD:9068941 20200609 RGD mRNA:decreased expression:retina: PMID:15718098|REF_RGD_ID:10045823 9060125 Mkx mohawk homeobox gene DOID:630 genetic disease ISO RGD:1313806 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060125 Mkx mohawk homeobox gene DOID:9003295 Heterotopic Ossification ISO RGD:1305652 D RGD:9068941 20210416 RGD compared to Wistar PMID:27370800|REF_RGD_ID:40924660 9060147 Tardbp TAR DNA binding protein gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1322081 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 9060147 Tardbp TAR DNA binding protein gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant PMID:19411082|PMID:20082726|PMID:20675015|PMID:20708823|PMID:22575358|PMID:24033266|PMID:26467025|PMID:28492532 9060147 Tardbp TAR DNA binding protein gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1322081 D RGD:7240710 20180130 OMIM 9060147 Tardbp TAR DNA binding protein gene DOID:0060201 amyotrophic lateral sclerosis type 10 ISO RGD:1322081 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: TARDBP-related condition PMID:18068872|PMID:18288693|PMID:18309045|PMID:18372902|PMID:18396105|PMID:18438952|PMID:18505686|PMID:18545701|PMID:18779421|PMID:18802454|PMID:18931000|PMID:19204172|PMID:19224587|PMID:19228676|PMID:19236453|PMID:19350673|PMID:19411082|PMID:19429692|PMID:19465477|PMID:19515851|PMID:19609911|PMID:19618195|PMID:19655382|PMID:19695877|PMID:19714537|PMID:19760257|PMID:19786775|PMID:19808791|PMID:19833869|PMID:19864663|PMID:19864664|PMID:19959528|PMID:20031275|PMID:20082726|PMID:20154440|PMID:20301761|PMID:20472325|PMID:20555136|PMID:20558945|PMID:20577002|PMID:20600671|PMID:20624952|PMID:20645878|PMID:20675015|PMID:20697052|PMID:20708823|PMID:20806063|PMID:20959352|PMID:21123567|PMID:21173160|PMID:21220647|PMID:21403029|PMID:21438137|PMID:21651514|PMID:21666678|PMID:21752789|PMID:21829392|PMID:21830990|PMID:21857683|PMID:21943958|PMID:22121224|PMID:22406069|PMID:22456481|PMID:22539580|PMID:22563080|PMID:22575358|PMID:22645277|PMID:22722621|PMID:23100398|PMID:23231971|PMID:23235148|PMID:23327806|PMID:23345247|PMID:23356346|PMID:23401527|PMID:23457265|PMID:23692129|PMID:23721326|PMID:23827948|PMID:23881933|PMID:24117534|PMID:24143176|PMID:24237396|PMID:24440310|PMID:24477737|PMID:24507191|PMID:25090004|PMID:25138285|PMID:25375143|PMID:25382069|PMID:25408367|PMID:25442115|PMID:25588603|PMID:25681989|PMID:25741868|PMID:25792239|PMID:25913742|PMID:26096467|PMID:26467025|PMID:26581115|PMID:26777436|PMID:26883171|PMID:27348499|PMID:27570075|PMID:28089114|PMID:28286471|PMID:28334913|PMID:28335005|PMID:28430856|PMID:28444446|PMID:28487370|PMID:28492532|PMID:28573484|PMID:28705014|PMID:28709720|PMID:28889094|PMID:29091718|PMID:29411640|PMID:29419416|PMID:29525180|PMID:29621978|PMID:29630989|PMID:29650794|PMID:29801890|PMID:29895397|PMID:30324134|PMID:30442180|PMID:30461104|PMID:30553531|PMID:30586030|PMID:30773994|PMID:31124595|PMID:31852254|PMID:31866807|PMID:31964415|PMID:31996268|PMID:32166880|PMID:32253937|PMID:32409511|PMID:32462798|PMID:32579787|PMID:32843152|PMID:32951934|PMID:33159016|PMID:33301444|PMID:33479441|PMID:33589474|PMID:33770234|PMID:34130995|PMID:34162492|PMID:34333853|PMID:35932023|PMID:36247987|PMID:36732882 9060147 Tardbp TAR DNA binding protein gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322081 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9060147 Tardbp TAR DNA binding protein gene DOID:0111936 immunodeficiency 14 ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 14 PMID:28492532 9060147 Tardbp TAR DNA binding protein gene DOID:10652 Alzheimer's disease ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased expression, phosphorylation:motor cortex PMID:21376022|REF_RGD_ID:5687139 9060147 Tardbp TAR DNA binding protein gene DOID:10652 Alzheimer's disease ISO RGD:1617357 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:21070634|REF_RGD_ID:5687178 9060147 Tardbp TAR DNA binding protein gene DOID:11870 Pick's disease ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:18091558|REF_RGD_ID:5687194 9060147 Tardbp TAR DNA binding protein gene DOID:12217 Lewy body dementia ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:20669025|REF_RGD_ID:5687180 9060147 Tardbp TAR DNA binding protein gene DOID:1289 neurodegenerative disease ISO RGD:1322081 D RGD:9068941 20210514 CTD CTD Direct Evidence: marker/mechanism PMID:33479441 9060147 Tardbp TAR DNA binding protein gene DOID:14330 Parkinson's disease ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:20551689|REF_RGD_ID:5687183 9060147 Tardbp TAR DNA binding protein gene DOID:14330 Parkinson's disease ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.A382T (human) PMID:21667065|REF_RGD_ID:5687172 9060147 Tardbp TAR DNA binding protein gene DOID:231 motor neuron disease ISO RGD:1322081 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:18372902|PMID:18931000|PMID:19224587|PMID:19760257|PMID:23881933|PMID:25442115|PMID:25741868|PMID:28089114|PMID:28430856|PMID:28492532 9060147 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:21752789|REF_RGD_ID:5687134 9060147 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:missense mutations:cds: PMID:18372902|REF_RGD_ID:5687192 9060147 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.G295S(human) PMID:21651514|REF_RGD_ID:5687173 9060147 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.M337V(human) PMID:18309045|REF_RGD_ID:5687157 9060147 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:17023659|REF_RGD_ID:5687158 9060147 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1322081 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:18372902|PMID:21167262|PMID:22879928|PMID:23104007|PMID:23891805|PMID:24019256|PMID:24252504|PMID:26980269|PMID:28122516|PMID:28478440|PMID:29419416|PMID:30157956 9060147 Tardbp TAR DNA binding protein gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:21998667|REF_RGD_ID:5687137 9060147 Tardbp TAR DNA binding protein gene DOID:630 genetic disease ISO RGD:1322081 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18068872|PMID:18288693|PMID:18309045|PMID:18372902|PMID:18505686|PMID:18545701|PMID:18779421|PMID:18802454|PMID:18931000|PMID:19204172|PMID:19224587|PMID:19236453|PMID:19411082|PMID:19515851|PMID:19655382|PMID:19695877|PMID:19760257|PMID:19786775|PMID:19808791|PMID:19864663|PMID:20082726|PMID:20301761|PMID:20555136|PMID:20645878|PMID:20675015|PMID:20708823|PMID:21120508|PMID:21173160|PMID:21943958|PMID:22121224|PMID:22456481|PMID:22539580|PMID:22575358|PMID:22645277|PMID:22722621|PMID:23100398|PMID:23231971|PMID:23327806|PMID:24143176|PMID:24325798|PMID:25138285|PMID:25375143|PMID:25442115|PMID:25588603|PMID:25741868|PMID:26467025|PMID:26883171|PMID:28286471|PMID:28335005|PMID:28430856|PMID:28492532|PMID:28573484|PMID:28889094|PMID:29091718|PMID:29801890|PMID:29895397|PMID:31996268|PMID:33589474|PMID:34130995|PMID:34162492|PMID:36247987|PMID:36732882 9060147 Tardbp TAR DNA binding protein gene DOID:678 progressive supranuclear palsy ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:20512649|REF_RGD_ID:5687185 9060147 Tardbp TAR DNA binding protein gene DOID:9000998 Brain Injuries ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:22101322|REF_RGD_ID:5687195 9060147 Tardbp TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:9068941 20200609 RGD PMID:22177996|REF_RGD_ID:5687136 9060147 Tardbp TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.A382T (human) PMID:21667065|REF_RGD_ID:5687172 9060147 Tardbp TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:17023659|REF_RGD_ID:5687158 9060147 Tardbp TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1322081 D RGD:9068941 20210604 CTD CTD Direct Evidence: marker/mechanism PMID:24019256|PMID:24252504|PMID:24477737|PMID:26980269 9060147 Tardbp TAR DNA binding protein gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1617357 D RGD:9068941 20200609 RGD PMID:20660618|REF_RGD_ID:5687159 9060147 Tardbp TAR DNA binding protein gene DOID:9002347 MASP2 Deficiency ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2 | ClinVar Annotator: match by term: MASP2 deficiency PMID:24033266|PMID:25741868|PMID:28492532 9060147 Tardbp TAR DNA binding protein gene DOID:9002775 Cognitive Dysfunction ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased phosphorylation:neocortex PMID:21865887|REF_RGD_ID:5687171 9060147 Tardbp TAR DNA binding protein gene DOID:9005179 Chronic Brain Injury ISO RGD:1322081 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:20720505|REF_RGD_ID:5687179 9060147 Tardbp TAR DNA binding protein gene DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K ISO RGD:1322081 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 9060147 Tardbp TAR DNA binding protein gene DOID:9007581 Familial Atrial Fibrillation 6 ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 6 PMID:28492532 9060147 Tardbp TAR DNA binding protein gene DOID:9255 frontotemporal dementia ISO RGD:1322081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia PMID:19411082|PMID:20082726|PMID:20675015|PMID:20708823|PMID:22575358|PMID:24033266|PMID:26467025|PMID:28492532 9060179 Znf274 zinc finger protein 274 gene DOID:630 genetic disease ISO RGD:1347715 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060179 Znf274 zinc finger protein 274 gene DOID:9002955 Nerve Degeneration ISO RGD:1314905 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18815271 9060195 Foxi1 forkhead box I1 gene DOID:0060744 Pendred syndrome ISO RGD:1316609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome PMID:17503324|PMID:25741868|PMID:28492532|PMID:30311386 9060195 Foxi1 forkhead box I1 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:1316609 D RGD:7240710 20180130 OMIM 9060195 Foxi1 forkhead box I1 gene DOID:0110498 autosomal recessive nonsyndromic deafness 4 ISO RGD:1316609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:17503324|PMID:20621367|PMID:20809947|PMID:24860705|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386 9060195 Foxi1 forkhead box I1 gene DOID:0111951 immunodeficiency 40 ISO RGD:1316609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532 9060195 Foxi1 forkhead box I1 gene DOID:630 genetic disease ISO RGD:1316609 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9060195 Foxi1 forkhead box I1 gene DOID:9004538 Hearing Loss ISO RGD:1316609 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed PMID:25741868|PMID:30311386 9060195 Foxi1 forkhead box I1 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1316609 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759393 9060210 Gpr20 G protein-coupled receptor 20 gene DOID:630 genetic disease ISO RGD:733771 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:10608 celiac disease ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20190752 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:1793 pancreatic cancer ISO RGD:1347259 D RGD:9068941 20200609 RGD protein:increased expression:pancreas PMID:12761880|REF_RGD_ID:2317610 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:2316 brain ischemia ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:2841 asthma ISO RGD:620594 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:3070 high grade glioma ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17522861 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:3744 cervical squamous cell carcinoma severity ISO RGD:1347259 D RGD:9068941 20200807 RGD PMID:28086903|REF_RGD_ID:38455996 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:3770 pulmonary fibrosis ISO RGD:620594 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:15993846|REF_RGD_ID:2306304 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:630 genetic disease ISO RGD:1347259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347259 D RGD:9068941 20200609 RGD mRNA:increased expression:synovium: PMID:25430645|REF_RGD_ID:10054499 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:7148 rheumatoid arthritis ISO RGD:1347259 D RGD:9068941 20200609 RGD protein:increased expression:synovial membrane: PMID:19942450|REF_RGD_ID:10054497 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:8398 osteoarthritis ISO RGD:1347259 D RGD:9068941 20200609 RGD protein:increased expression:synovial membrane: PMID:19942450|REF_RGD_ID:10054497 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:8541 Sezary's disease ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 9060213 Ccr4 C-C motif chemokine receptor 4 gene DOID:9007188 Liver Neoplasms ISO RGD:1347259 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19233941 9060229 P3h2 prolyl 3-hydroxylase 2 gene DOID:10584 retinitis pigmentosa ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290 9060229 P3h2 prolyl 3-hydroxylase 2 gene DOID:5295 intestinal disease ISO RGD:12184798 D RGD:9068941 20230824 OMIA Lundehund syndrome PMID:25860808|PMID:27485430|PMID:37405168|PMID:37582787|PMID:7946268|PMID:853728 9060229 P3h2 prolyl 3-hydroxylase 2 gene DOID:5419 schizophrenia ISO RGD:1312081 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9060229 P3h2 prolyl 3-hydroxylase 2 gene DOID:630 genetic disease ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9060229 P3h2 prolyl 3-hydroxylase 2 gene DOID:9001833 Myopia 23, Autosomal Recessive ISO RGD:1312081 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Rare isolated myopia PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532 9060229 P3h2 prolyl 3-hydroxylase 2 gene DOID:9005145 High Myopia with Cataract and Vitreoretinal Degeneration ISO RGD:1312081 D RGD:7240710 20180130 OMIM 9060229 P3h2 prolyl 3-hydroxylase 2 gene DOID:9005145 High Myopia with Cataract and Vitreoretinal Degeneration ISO RGD:1312081 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration | ClinVar Annotator: match by term: P3H2-related condition PMID:21885030|PMID:24172257|PMID:25469533|PMID:25741868|PMID:28492532|PMID:31456290 9060255 Nup93 nucleoporin 93 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9060255 Nup93 nucleoporin 93 gene DOID:0080379 nephrotic syndrome type 2 ISO RGD:1323029 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26878725 9060255 Nup93 nucleoporin 93 gene DOID:0080387 nephrotic syndrome type 12 ISO RGD:1323029 D RGD:7240710 20190315 OMIM 9060255 Nup93 nucleoporin 93 gene DOID:0080387 nephrotic syndrome type 12 ISO RGD:1323029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NUP93-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 12 PMID:25741868|PMID:26878725|PMID:28492532|PMID:29127259|PMID:33532864 9060255 Nup93 nucleoporin 93 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323029 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9060255 Nup93 nucleoporin 93 gene DOID:1184 nephrotic syndrome ISO RGD:1323029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:25741868|PMID:26878725|PMID:28492532|PMID:29127259|PMID:30655312|PMID:33532864 9060255 Nup93 nucleoporin 93 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1323029 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:32581362 9060255 Nup93 nucleoporin 93 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1323029 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9060255 Nup93 nucleoporin 93 gene DOID:630 genetic disease ISO RGD:1323029 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9060298 Syt14 synaptotagmin 14 gene DOID:0080063 autosomal recessive spinocerebellar ataxia 11 ISO RGD:1345341 D RGD:7240710 20180130 OMIM 9060298 Syt14 synaptotagmin 14 gene DOID:0080063 autosomal recessive spinocerebellar ataxia 11 ISO RGD:1345341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11 PMID:21835308|PMID:25741868|PMID:26467025 9060298 Syt14 synaptotagmin 14 gene DOID:1540 parathyroid carcinoma ISO RGD:1345341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9060298 Syt14 synaptotagmin 14 gene DOID:630 genetic disease ISO RGD:1345341 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025 9060298 Syt14 synaptotagmin 14 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:1345341 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9060298 Syt14 synaptotagmin 14 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345341 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9060317 Akap11 A-kinase anchoring protein 11 gene DOID:3312 bipolar disorder ISO RGD:736276 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35410376 9060317 Akap11 A-kinase anchoring protein 11 gene DOID:5419 schizophrenia ISO RGD:736276 D RGD:9068941 20220609 CTD CTD Direct Evidence: marker/mechanism PMID:35410376 9060317 Akap11 A-kinase anchoring protein 11 gene DOID:630 genetic disease ISO RGD:736276 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060317 Akap11 A-kinase anchoring protein 11 gene DOID:9007364 Mouth Neoplasms ISO RGD:736276 D RGD:9068941 20200609 RGD mRNA:increased expression:oral mucosa: PMID:15849745|REF_RGD_ID:14348954 9060342 Pou3f2 POU class 3 homeobox 2 gene DOID:3312 bipolar disorder ISO RGD:1351786 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31043756 9060342 Pou3f2 POU class 3 homeobox 2 gene DOID:630 genetic disease ISO RGD:1351786 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060348 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1315272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9060348 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 ISO RGD:1315272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 PMID:22683086|PMID:24417746|PMID:28492532 9060348 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1315272 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9060348 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:0080942 anauxetic dysplasia ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:28492532 9060348 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 ISO RGD:1315272 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 PMID:28492532 9060348 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9060348 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:630 genetic disease ISO RGD:1315272 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060348 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:9562 primary ciliary dyskinesia ISO RGD:1315272 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9060348 Rpp25l ribonuclease P/MRP subunit p25 like gene DOID:9870 galactosemia ISO RGD:1315272 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9060353 Acin1 apoptotic chromatin condensation inducer 1 gene DOID:0060439 lysinuric protein intolerance ISO RGD:1323663 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:28492532 9060353 Acin1 apoptotic chromatin condensation inducer 1 gene DOID:630 genetic disease ISO RGD:1323663 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060353 Acin1 apoptotic chromatin condensation inducer 1 gene DOID:9000265 Specific Granule Deficiency ISO RGD:1323663 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Specific granule deficiency PMID:28492532 9060353 Acin1 apoptotic chromatin condensation inducer 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1323663 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9060376 Pate4 prostate and testis expressed 4 gene DOID:0110877 holoprosencephaly 11 ISO RGD:2302529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 9060376 Pate4 prostate and testis expressed 4 gene DOID:0111723 Jacobsen Syndrome ISO RGD:2302529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia PMID:32581362 9060376 Pate4 prostate and testis expressed 4 gene DOID:5419 schizophrenia ISO RGD:2302529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9060376 Pate4 prostate and testis expressed 4 gene DOID:630 genetic disease ISO RGD:2302529 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060376 Pate4 prostate and testis expressed 4 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:2302529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9060376 Pate4 prostate and testis expressed 4 gene DOID:9007661 Dwarfism ISO RGD:2302529 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9060382 LOC102025227 cytochrome c oxidase subunit 6B1 gene DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 ISO RGD:1343660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 PMID:25741868 9060382 LOC102025227 cytochrome c oxidase subunit 6B1 gene DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 ISO RGD:1343660 D RGD:7240710 20201111 OMIM 9060382 LOC102025227 cytochrome c oxidase subunit 6B1 gene DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 ISO RGD:1343660 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 PMID:25741868|PMID:28492532 9060382 LOC102025227 cytochrome c oxidase subunit 6B1 gene DOID:0110222 Brugada syndrome 5 ISO RGD:1343660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 9060382 LOC102025227 cytochrome c oxidase subunit 6B1 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1343660 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9060382 LOC102025227 cytochrome c oxidase subunit 6B1 gene DOID:3762 cytochrome-c oxidase deficiency disease ISO RGD:1343660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Complex IV deficiency | ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency disease PMID:18499082|PMID:24781756|PMID:25741868|PMID:28492532 9060382 LOC102025227 cytochrome c oxidase subunit 6B1 gene DOID:543 dystonia ISO RGD:1343660 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder PMID:32581362 9060382 LOC102025227 cytochrome c oxidase subunit 6B1 gene DOID:630 genetic disease ISO RGD:1343660 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9060390 Acy1 aminoacylase 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:1351880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472284 9060390 Acy1 aminoacylase 1 gene DOID:1059 intellectual disability ISO RGD:1351880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9060390 Acy1 aminoacylase 1 gene DOID:4450 renal cell carcinoma ISO RGD:1351880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15108329 9060390 Acy1 aminoacylase 1 gene DOID:630 genetic disease ISO RGD:1351880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16274666|PMID:16465618|PMID:17562838|PMID:20480396|PMID:21414403|PMID:24997716|PMID:25741868|PMID:26686503|PMID:28492532|PMID:29653693 9060390 Acy1 aminoacylase 1 gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:1351880 D RGD:7240710 20180130 OMIM 9060390 Acy1 aminoacylase 1 gene DOID:9003016 Aminoacylase 1 Deficiency ISO RGD:1351880 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aminoacylase 1 deficiency PMID:16274666|PMID:16465618|PMID:17562838|PMID:20480396|PMID:21414403|PMID:24117009|PMID:24997716|PMID:25741868|PMID:26686503|PMID:28492532|PMID:29653693|PMID:31980526 9060407 Ube2n ubiquitin conjugating enzyme E2 N gene DOID:630 genetic disease ISO RGD:1348630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060407 Ube2n ubiquitin conjugating enzyme E2 N gene DOID:9004994 Embryo Loss ISO RGD:1348630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16738225 9060420 Tmem69 transmembrane protein 69 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9060420 Tmem69 transmembrane protein 69 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:1605680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9060420 Tmem69 transmembrane protein 69 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605680 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9060420 Tmem69 transmembrane protein 69 gene DOID:13938 amenorrhea ISO RGD:1605680 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9060420 Tmem69 transmembrane protein 69 gene DOID:630 genetic disease ISO RGD:1605680 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060433 Gpr180 G protein-coupled receptor 180 gene DOID:0110878 holoprosencephaly 5 ISO RGD:1604518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:17274816|PMID:19955556|PMID:28492532|PMID:29770992 9060433 Gpr180 G protein-coupled receptor 180 gene DOID:630 genetic disease ISO RGD:1604518 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060433 Gpr180 G protein-coupled receptor 180 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1604518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9060433 Gpr180 G protein-coupled receptor 180 gene DOID:9006419 Congenital Microcoria ISO RGD:1604518 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital miosis PMID:32672565 9060446 Zwilch zwilch kinetochore protein gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1602882 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9060446 Zwilch zwilch kinetochore protein gene DOID:2717 Bloom syndrome ISO RGD:1602882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9060446 Zwilch zwilch kinetochore protein gene DOID:630 genetic disease ISO RGD:1602882 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060446 Zwilch zwilch kinetochore protein gene DOID:9004657 Weight Gain ISO RGD:1602882 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 9060446 Zwilch zwilch kinetochore protein gene DOID:9256 colorectal cancer ISO RGD:1602882 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:0112168 autosomal dominant nonsyndromic deafness 77 ISO RGD:1344624 D RGD:7240710 20200701 OMIM 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:0112168 autosomal dominant nonsyndromic deafness 77 ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 77 PMID:31273342 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:10652 Alzheimer's disease ISO RGD:10919 D RGD:9068941 20200609 RGD PMID:25991605|REF_RGD_ID:13801010 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:10763 hypertension ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17272743 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:114 heart disease ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16330681 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:12849 autistic disorder ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:1324 lung cancer treatment ISO RGD:10919 D RGD:9068941 20220901 RGD PMID:35289739|REF_RGD_ID:153344587 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:1826 epilepsy ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:2738 pseudoxanthoma elasticum ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoxanthoma elasticum PMID:11439001|PMID:16541094 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:2841 asthma ISO RGD:10919 D RGD:9068941 20200609 RGD PMID:18931056|REF_RGD_ID:5128825 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1344624 D RGD:9068941 20200609 RGD DNA:SNPs: :rs212093, rs4148382 (human) PMID:20487524|REF_RGD_ID:5128824 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1344624 D RGD:9068941 20200609 RGD mRNA:decreased expression:respiratory epithelial cell PMID:12930913|REF_RGD_ID:5128827 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:5419 schizophrenia ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25275603 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:574 peripheral nervous system disease ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:630 genetic disease ISO RGD:1344624 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:8445 intestinal volvulus ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:874 bacterial pneumonia ISO RGD:10919 D RGD:9068941 20200609 RGD PMID:11238654|REF_RGD_ID:5128828 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:9000918 Disease Progression ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25078270 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18256692 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18466103 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:9007521 Desbuquois Dysplasia 1 ISO RGD:1344624 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:9008443 Colorectal Neoplasms ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:9008939 Breast Neoplasms ISO RGD:1344624 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25078270 9060478 Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) gene DOID:9008952 Breast Cancer, Familial ISO RGD:1344624 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:0060041 autism spectrum disorder ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:30504930 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:68630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:16199547|PMID:23169530|PMID:23480858|PMID:25741868|PMID:28492532|PMID:32581362|PMID:9973285 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:68630 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:1059 intellectual disability ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:10652 Alzheimer's disease ISO RGD:68630 D RGD:9068941 20200609 RGD PMID:24156266|REF_RGD_ID:13792688 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:11206 opioid abuse treatment ISO RGD:68631 D RGD:9068941 20240104 RGD PMID:31081159|REF_RGD_ID:401940188 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:11612 polycystic ovary syndrome ISO RGD:68630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:12177 common variable immunodeficiency ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:12858 Huntington's disease ISO RGD:68631 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, synapse PMID:25568121|REF_RGD_ID:13432154 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:12858 Huntington's disease ISO RGD:68631 D RGD:9068941 20200609 RGD protein:decreased expression:prefrontal cortex PMID:24728190|REF_RGD_ID:13432155 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:14330 Parkinson's disease ISO RGD:68424 D RGD:9068941 20200609 RGD protein:altered localization, decreased expression:striatum:redistribution from synapse to vesicles PMID:15703272|REF_RGD_ID:2306834 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:1574 alcohol use disorder ISO RGD:68631 D RGD:9068941 20240127 RGD associated with Prenatal Exposure Delayed Effects and anxiety disorder:mRNA,protein:decreased expression:brain (mouse) PMID:30016666|REF_RGD_ID:401959614 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:1928 Williams-Beuren syndrome ISO RGD:68630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20952458 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:1928 Williams-Beuren syndrome ISO RGD:68631 D RGD:9068941 20220825 MouseDO OMIM:194050 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:2729 dyskeratosis congenita ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:68630 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:23172776|PMID:26681312|PMID:28492532 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:3328 temporal lobe epilepsy ISO RGD:68424 D RGD:9068941 20200609 RGD protein:decreased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:630 genetic disease ISO RGD:68630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30504930|PMID:33597769 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9000884 Rhabdomyolysis ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:32581362 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9001131 stress-related disorder sexual_dimorphism ISO RGD:68424 D RGD:9068941 20240201 RGD PMID:27894930|REF_RGD_ID:401959751 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9002211 Hyperalgesia ISO RGD:68424 D RGD:9068941 20200609 RGD associated with Diabetic neuropathies; PMID:20531396|REF_RGD_ID:7257680 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9003710 Autosomal Dominant Intellectual Developmental Disorder 62 ISO RGD:68630 D RGD:7240710 20200318 OMIM 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9003710 Autosomal Dominant Intellectual Developmental Disorder 62 ISO RGD:68630 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 | ClinVar Annotator: match by term: Intellectual developmental disorder 62 PMID:16199547|PMID:25741868|PMID:26350515|PMID:27479843|PMID:27618451|PMID:28492532|PMID:29460436|PMID:33597769 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:68630 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28191889 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9005335 Cerebral Visual Impairment and Intellectual Disability ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability PMID:25741868|PMID:26350515|PMID:27479843|PMID:33597769 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:68630 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868|PMID:29460436|PMID:33597769 9060518 Dlg4 discs large MAGUK scaffold protein 4 gene DOID:9008104 Cancer Pain ameliorates ISO RGD:68424 D RGD:9068941 20230401 RGD PMID:26738857|REF_RGD_ID:243048441 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ISO RGD:736371 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive PMID:11101853|PMID:11528386|PMID:11548742|PMID:11841494|PMID:12373647|PMID:15372250|PMID:16505159|PMID:19111528|PMID:21507955|PMID:28492532|PMID:7621884 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:10763 hypertension ameliorates ISO RGD:3451 D RGD:9068941 20230831 RGD associated with Cardiac Fibrosis PMID:25715999|REF_RGD_ID:401794570 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:1540 parathyroid carcinoma ISO RGD:736371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:2377 multiple sclerosis ISO RGD:736371 D RGD:9068941 20200609 RGD DNA:snp:exon:c.77C>G (human) PMID:11101853|REF_RGD_ID:1358566 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:5679 retinal disease ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19324842 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:627 severe combined immunodeficiency ISO RGD:736371 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:630 genetic disease ISO RGD:736371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:7148 rheumatoid arthritis ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20453842|PMID:23143596 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:8466 retinal degeneration ISO RGD:3451 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:9000795 Immunodeficiency 104 ISO RGD:736371 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:10700239|PMID:11101853|PMID:11528386|PMID:11548742|PMID:11841494|PMID:12373647|PMID:15372250|PMID:16199547|PMID:16505159|PMID:17576681|PMID:19111528|PMID:21507955|PMID:25741868|PMID:26915675|PMID:28492532|PMID:31848144|PMID:7621884|PMID:9536098 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:9002304 Prostatic Neoplasms ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:9002514 Neointima treatment ISO RGD:3451 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2 PMID:12377736|REF_RGD_ID:729766 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:9004745 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES ISO RGD:3451 D RGD:9068941 20230525 RGD associated with hyperaldosterone; mRNA:decreased expression:retina (rat) PMID:29713904|REF_RGD_ID:152025547 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:9005579 Immunodeficiency 105 ISO RGD:736371 D RGD:7240710 20220720 OMIM 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:9005579 Immunodeficiency 105 ISO RGD:736371 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 105 PMID:10700239|PMID:11101853|PMID:11145714|PMID:11528386|PMID:11548742|PMID:11841494|PMID:12373647|PMID:15372250|PMID:16505159|PMID:19111528|PMID:21507955|PMID:22689986|PMID:25741868|PMID:26915675|PMID:28492532|PMID:7621884|PMID:9068311 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:9005936 Gastro-Enteropancreatic Neuroendocrine Tumor ISO RGD:736371 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915428 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:9074 systemic lupus erythematosus ISO RGD:11196 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 9060585 Ptprc protein tyrosine phosphatase receptor type C gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736371 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9060620 Btbd6 BTB domain containing 6 gene DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O ISO RGD:1352605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:28492532 9060620 Btbd6 BTB domain containing 6 gene DOID:0111130 focal segmental glomerulosclerosis 5 ISO RGD:1352605 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 PMID:28492532 9060620 Btbd6 BTB domain containing 6 gene DOID:630 genetic disease ISO RGD:1352605 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060627 Cfb complement factor B gene DOID:0050127 sinusitis ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:14510109|REF_RGD_ID:7411729 9060627 Cfb complement factor B gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1350557 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9060627 Cfb complement factor B gene DOID:0060295 complement component 2 deficiency ISO RGD:1350557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: C2 deficiency | ClinVar Annotator: match by term: Complement component 2 deficiency PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 9060627 Cfb complement factor B gene DOID:0080162 lupus nephritis ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:10623824|PMID:3183062|REF_RGD_ID:7242736|REF_RGD_ID:7242763 9060627 Cfb complement factor B gene DOID:0080162 lupus nephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:21893562|REF_RGD_ID:7242755 9060627 Cfb complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:28492532|PMID:6308626|PMID:7452889|PMID:8181962 9060627 Cfb complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:6308626|PMID:7452889|PMID:8181962|PMID:9616367 9060627 Cfb complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 PMID:15661753|PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:6308626|PMID:7452889|PMID:8181962|PMID:9616367 9060627 Cfb complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1350557 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:15661753|PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17182750|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27625572|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:34714369|PMID:6308626|PMID:7452889|PMID:8181962|PMID:9616367 9060627 Cfb complement factor B gene DOID:0080301 atypical hemolytic-uremic syndrome susceptibility ISO RGD:1350557 D RGD:7240710 20240313 OMIM 9060627 Cfb complement factor B gene DOID:0080322 polycystic kidney disease treatment ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:24494798|REF_RGD_ID:8661641 9060627 Cfb complement factor B gene DOID:0080322 polycystic kidney disease treatment ISO RGD:2204 D RGD:9068941 20200609 RGD PMID:24494798|REF_RGD_ID:8661641 9060627 Cfb complement factor B gene DOID:0080750 erythema nodosum ISO RGD:1350557 D RGD:9068941 20200609 RGD associated with Leprosy PMID:2783924|REF_RGD_ID:7421527 9060627 Cfb complement factor B gene DOID:0110019 age related macular degeneration 7 no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) PMID:19899988|REF_RGD_ID:7401252 9060627 Cfb complement factor B gene DOID:0110026 age related macular degeneration 14 ISO RGD:1350557 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 14 PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 9060627 Cfb complement factor B gene DOID:0110026 age related macular degeneration 14 susceptibility ISO RGD:1350557 D RGD:7240710 20240313 OMIM 9060627 Cfb complement factor B gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1350557 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 9060627 Cfb complement factor B gene DOID:10754 otitis media ISO RGD:10236 D RGD:9068941 20200609 RGD associated with Pneumococcal Infections PMID:20065024|REF_RGD_ID:7411716 9060627 Cfb complement factor B gene DOID:10887 lepromatous leprosy severity ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:6342123|REF_RGD_ID:7411735 9060627 Cfb complement factor B gene DOID:10923 sickle cell anemia ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:10440069|REF_RGD_ID:11041159 9060627 Cfb complement factor B gene DOID:10923 sickle cell anemia ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:decreased activity PMID:12793071|REF_RGD_ID:11041160 9060627 Cfb complement factor B gene DOID:10976 membranous glomerulonephritis susceptibility ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:3272818|REF_RGD_ID:7242764 9060627 Cfb complement factor B gene DOID:11400 pyelonephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD associated with pregnancy complications;protein:increased activity:plasma PMID:20218820|REF_RGD_ID:7242756 9060627 Cfb complement factor B gene DOID:12134 factor VIII deficiency ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:blood PMID:6912882|REF_RGD_ID:11041156 9060627 Cfb complement factor B gene DOID:12241 beta thalassemia ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:6914868|REF_RGD_ID:11041572 9060627 Cfb complement factor B gene DOID:1227 neutropenia ISO RGD:1350557 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neutropenia 9060627 Cfb complement factor B gene DOID:12662 paracoccidioidomycosis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:7921333|REF_RGD_ID:7421526 9060627 Cfb complement factor B gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1350557 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:16518403|PMID:16936732|PMID:18806293|PMID:21541267|PMID:2249879|PMID:24033266|PMID:25741868|PMID:28492532|PMID:6308626|PMID:8181962 9060627 Cfb complement factor B gene DOID:13241 Behcet's disease ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:6900632|REF_RGD_ID:7411737 9060627 Cfb complement factor B gene DOID:1407 anterior uveitis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:6610667|REF_RGD_ID:7411736 9060627 Cfb complement factor B gene DOID:1407 anterior uveitis ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:SNP: :rs1048709 (human) PMID:22714898|REF_RGD_ID:7411695 9060627 Cfb complement factor B gene DOID:1407 anterior uveitis no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:SNP: :rs537160, rs4151657, rs2072633 (human) PMID:22714898|REF_RGD_ID:7411695 9060627 Cfb complement factor B gene DOID:14095 boutonneuse fever ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3361150|REF_RGD_ID:11041575 9060627 Cfb complement factor B gene DOID:1612 breast cancer treatment ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:15274022|REF_RGD_ID:7411730 9060627 Cfb complement factor B gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:12091909|REF_RGD_ID:734771 9060627 Cfb complement factor B gene DOID:2920 membranoproliferative glomerulonephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:2329415|REF_RGD_ID:7242760 9060627 Cfb complement factor B gene DOID:2986 IgA glomerulonephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:3118258|REF_RGD_ID:7242754 9060627 Cfb complement factor B gene DOID:2986 IgA glomerulonephritis ISO RGD:1350557 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney PMID:8567024|REF_RGD_ID:7242737 9060627 Cfb complement factor B gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:17385664|REF_RGD_ID:7242759 9060627 Cfb complement factor B gene DOID:418 systemic scleroderma ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:2803327|REF_RGD_ID:7421518 9060627 Cfb complement factor B gene DOID:437 myasthenia gravis ISO RGD:1350557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6605118 9060627 Cfb complement factor B gene DOID:4448 macular degeneration ISO RGD:1350557 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:23847193|PMID:24033266|PMID:24652797|PMID:25741868|PMID:26054779|PMID:26283675|PMID:26826462|PMID:27268256|PMID:27625572|PMID:27870017|PMID:28461395|PMID:28492532|PMID:28682564|PMID:29148534|PMID:29563339|PMID:34169201|PMID:34177949|PMID:34714369|PMID:6308626|PMID:8181962|PMID:9616367 9060627 Cfb complement factor B gene DOID:4448 macular degeneration no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:SNPs: :multiple PMID:18806293|REF_RGD_ID:7411713 9060627 Cfb complement factor B gene DOID:4448 macular degeneration no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human) PMID:22273503|REF_RGD_ID:7411731 9060627 Cfb complement factor B gene DOID:4448 macular degeneration susceptibility ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1169-69T>C (rs541862) (human) PMID:22232432|REF_RGD_ID:7411694 9060627 Cfb complement factor B gene DOID:4780 anti-basement membrane glomerulonephritis ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:22492944|REF_RGD_ID:7242700 9060627 Cfb complement factor B gene DOID:557 kidney disease ISO RGD:1350557 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:23847193|PMID:24652797|PMID:25741868|PMID:28492532 9060627 Cfb complement factor B gene DOID:6195 conjunctivitis ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:tear PMID:3875643|REF_RGD_ID:7421524 9060627 Cfb complement factor B gene DOID:630 genetic disease ISO RGD:1350557 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9060627 Cfb complement factor B gene DOID:783 end stage renal disease ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:17522263|REF_RGD_ID:7242704 9060627 Cfb complement factor B gene DOID:783 end stage renal disease severity ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:1837062|REF_RGD_ID:7242753 9060627 Cfb complement factor B gene DOID:8466 retinal degeneration treatment ISO RGD:2204 D RGD:9068941 20200609 RGD PMID:21467172|REF_RGD_ID:7364947 9060627 Cfb complement factor B gene DOID:8506 bullous pemphigoid ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:17024247|REF_RGD_ID:7421522 9060627 Cfb complement factor B gene DOID:8577 ulcerative colitis ISO RGD:1350557 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 9060627 Cfb complement factor B gene DOID:8893 psoriasis ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:6559061|REF_RGD_ID:7411727 9060627 Cfb complement factor B gene DOID:8893 psoriasis no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:2609873|REF_RGD_ID:7421520 9060627 Cfb complement factor B gene DOID:8947 diabetic retinopathy ISO RGD:1350557 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1048709 (human) PMID:23864767|REF_RGD_ID:7365019 9060627 Cfb complement factor B gene DOID:8947 diabetic retinopathy no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs537160, rs4151657, rs2072633 (human) PMID:23864767|REF_RGD_ID:7365019 9060627 Cfb complement factor B gene DOID:898 autosomal dominant polycystic kidney disease disease_progression ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:24494798|REF_RGD_ID:8661641 9060627 Cfb complement factor B gene DOID:9000998 Brain Injuries ISO RGD:1350557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17474994 9060627 Cfb complement factor B gene DOID:9001044 Choroidal Neovascularization ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:16849499|REF_RGD_ID:7411733 9060627 Cfb complement factor B gene DOID:9004484 Sepsis treatment ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:24154627|REF_RGD_ID:11040886 9060627 Cfb complement factor B gene DOID:9005169 Complement Factor B Deficiency ISO RGD:1350557 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Complement factor B deficiency | ClinVar Annotator: match by term: Complement factor b deficiency PMID:16518403|PMID:16936732|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:23847193|PMID:24033266|PMID:24152280|PMID:24652797|PMID:25741868|PMID:28492532 9060627 Cfb complement factor B gene DOID:9005169 Complement Factor B Deficiency susceptibility ISO RGD:1350557 D RGD:7240710 20240313 OMIM 9060627 Cfb complement factor B gene DOID:9005969 Refractory Anemia with Excess of Blasts disease_progression ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:9741227|REF_RGD_ID:11041158 9060627 Cfb complement factor B gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:12538716|PMID:16467447|REF_RGD_ID:7242709|REF_RGD_ID:7242734 9060627 Cfb complement factor B gene DOID:9006642 Experimental Autoimmune Uveoretinitis ISO RGD:2204 D RGD:9068941 20200609 RGD PMID:21216963|REF_RGD_ID:7411732 9060627 Cfb complement factor B gene DOID:9006642 Experimental Autoimmune Uveoretinitis treatment ISO RGD:10236 D RGD:9068941 20200609 RGD PMID:20806290|REF_RGD_ID:7411717 9060627 Cfb complement factor B gene DOID:9007189 Multifocal Choroiditis no_association ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human) PMID:19001225|REF_RGD_ID:7411728 9060627 Cfb complement factor B gene DOID:9008261 Chemically-Induced Disorders ISO RGD:1350557 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35999755 9060627 Cfb complement factor B gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis treatment ISO RGD:2204 D RGD:9068941 20200609 RGD PMID:25355917|REF_RGD_ID:11041161 9060627 Cfb complement factor B gene DOID:9008366 Meningococcal Infections severity ISO RGD:1350557 D RGD:9068941 20200609 RGD PMID:3491693|REF_RGD_ID:11041157 9060627 Cfb complement factor B gene DOID:9008537 Polypoidal Choroidal Vasculopathy susceptibility ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:snp:intron:c.1169-69T>C (rs541862) (human) PMID:22232432|REF_RGD_ID:7411694 9060627 Cfb complement factor B gene DOID:9074 systemic lupus erythematosus ISO RGD:1350557 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19838195 9060627 Cfb complement factor B gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:polymorphism PMID:19000152|REF_RGD_ID:2311335 9060627 Cfb complement factor B gene DOID:9744 type 1 diabetes mellitus ISO RGD:1350557 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:3907907|REF_RGD_ID:2311338 9060627 Cfb complement factor B gene DOID:9952 acute lymphoblastic leukemia ISO RGD:1350557 D RGD:9068941 20200609 RGD DNA:missense mutation:p.R32Q b(human) PMID:6958349|REF_RGD_ID:11041155 9060654 Herpud2 HERPUD family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1605640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9060654 Herpud2 HERPUD family member 2 gene DOID:630 genetic disease ISO RGD:1605640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060654 Herpud2 HERPUD family member 2 gene DOID:676 juvenile rheumatoid arthritis ISO RGD:1605640 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19565504 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:0060074 ductal carcinoma in situ ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:1824 status epilepticus ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus PMID:14614901|REF_RGD_ID:1625688 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:1936 atherosclerosis ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19330073 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:3008 invasive ductal carcinoma ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:increased expression:breast PMID:12888825|REF_RGD_ID:2298909 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:409 liver disease ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19784758 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:4947 cholangiocarcinoma severity ISO RGD:730833 D RGD:9068941 20220128 RGD protein:decreased expression:bile duct (human) PMID:26485275|REF_RGD_ID:11250478 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:decreased expression:uterine cervix PMID:16878360|REF_RGD_ID:2298904 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:630 genetic disease ISO RGD:730833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:684 hepatocellular carcinoma ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16831601 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9000081 Lymphatic Metastasis ISO RGD:730833 D RGD:9068941 20200609 RGD associated with Breast Neoplasms PMID:18097573|REF_RGD_ID:2298901 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9000099 Experimental Colitis treatment ISO RGD:621087 D RGD:9068941 20220623 RGD PMID:29572553|REF_RGD_ID:152995414 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9000784 Fibrosis ISO RGD:621087 D RGD:9068941 20200609 RGD PMID:16012948|REF_RGD_ID:1625686 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9002457 Experimental Arthritis ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA:increased expression:mononuclear cell PMID:16507131|REF_RGD_ID:1625684 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9004009 Reperfusion Injury ISO RGD:621087 D RGD:9068941 20200609 RGD associated with Brain Ischemia;mRNA, protein:increased expression:cerebral cortex PMID:12437578|REF_RGD_ID:632385 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9004484 Sepsis ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:11312157|REF_RGD_ID:634751 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9004484 Sepsis ISO RGD:621087 D RGD:9068941 20200609 RGD protein:increased expression:gastrocnemius PMID:12644450|REF_RGD_ID:2298924 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:730834 D RGD:9068941 20200609 RGD mRNA:increased expression:mammary gland PMID:18381452|REF_RGD_ID:2298899 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:retina PMID:18356406|REF_RGD_ID:2298911 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9005643 Experimental Diabetes Mellitus susceptibility ISO RGD:730834 D RGD:9068941 20200609 RGD PMID:17562326|REF_RGD_ID:2313787 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9005930 Endotoxemia ISO RGD:621087 D RGD:9068941 20200609 RGD PMID:12217886|REF_RGD_ID:625688 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9005930 Endotoxemia ISO RGD:730834 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, skeletal muscle PMID:15169905|REF_RGD_ID:2298923 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9007692 Insulin Resistance ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus PMID:15240880|REF_RGD_ID:1625677 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Obesity PMID:17295835|REF_RGD_ID:2313789 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9007715 Endometrial Neoplasms ISO RGD:730833 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16804899 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9007730 Burns ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:hepatocyte PMID:12392283|REF_RGD_ID:730264 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9008114 Helicobacter Infections ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression PMID:17405912|REF_RGD_ID:1625683 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:15331532|REF_RGD_ID:2313790 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730834 D RGD:9068941 20200609 RGD PMID:17513737|REF_RGD_ID:2313788 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:621087 D RGD:9068941 20200609 RGD PMID:29110587|REF_RGD_ID:13506806 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9452 steatotic liver disease ISO RGD:730834 D RGD:9068941 20200609 RGD associated with Obesity PMID:15240880|REF_RGD_ID:1625677 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:621087 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:white fat PMID:11027633|REF_RGD_ID:2298920 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:altered expression:skeletal muscle, subcutaneous adipose tissue PMID:15331532|REF_RGD_ID:2313790 9060666 Socs3 suppressor of cytokine signaling 3 gene DOID:9970 obesity ISO RGD:730833 D RGD:9068941 20200609 RGD mRNA:decreased expression:subcutaneous adipose tissue PMID:16920065|REF_RGD_ID:1625676 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:0002116 pterygium susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S326C (1245C>G, rs1052133) (human) PMID:14716324|REF_RGD_ID:8657375 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:0050387 nonpapillary renal cell carcinoma ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:0060058 lymphoma ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17441966 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:10283 prostate cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S326C (human) PMID:24649009|REF_RGD_ID:8657136 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:10283 prostate cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S326C (1245C>G) (rs1052133) (human) PMID:19914098|REF_RGD_ID:8657378 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:10591 pre-eclampsia ISO RGD:1353911 D RGD:9068941 20231130 RGD mRNA:increased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1070 primary open angle glaucoma ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP: :p.S326C (human) PMID:23499241|REF_RGD_ID:8657152 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:10763 hypertension susceptibility ISO RGD:1353911 D RGD:9068941 20230928 RGD DNA:SNP,haplotype::p.S326C (rs1052133) (human) PMID:25529925|REF_RGD_ID:401827819 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1115 sarcoma ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:16024598|REF_RGD_ID:8657138 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:114 heart disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21873502 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:11714 gestational diabetes ISO RGD:1353911 D RGD:9068941 20231130 RGD mRNA:increased expression:placenta (human) PMID:36477942|REF_RGD_ID:401901174 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:12336 male infertility ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23376476 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:12361 Graves' disease ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) PMID:21465496|REF_RGD_ID:8657376 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:12858 Huntington's disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19857538 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:14115 toxic shock syndrome ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:15677345|REF_RGD_ID:8657146 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:14330 Parkinson's disease ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:increased expression:substantia nigra, neuron PMID:15841414|REF_RGD_ID:8657142 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphism: :11657A>G (human) PMID:16614128|REF_RGD_ID:8657149 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:11536371|REF_RGD_ID:8657371 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer disease_progression ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter PMID:24395279|REF_RGD_ID:8657368 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr:c.-23A>G, c.-45G>A, c.-63G>C, (human) PMID:21153698|REF_RGD_ID:8657373 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.S326C (rs1052133) (human) PMID:16492928|REF_RGD_ID:8657157 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.R229Q (human) PMID:20183911|REF_RGD_ID:8657370 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphisms: :p.S326C, 7143A>G (human) PMID:16614128|REF_RGD_ID:8657149 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:transition:intron:IVS1+22G>A (human) PMID:11536371|REF_RGD_ID:8657371 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP: :p.S326C (human) PMID:24606430|REF_RGD_ID:8657139 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2072668, p.S326C (human) PMID:24076439|REF_RGD_ID:8657140 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1612 breast cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNPs:5' utr:c.-18G>T, c.-53G>C (human) PMID:21153698|REF_RGD_ID:8657373 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1749 squamous cell carcinoma ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:16024598|REF_RGD_ID:8657138 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1793 pancreatic cancer ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphism: :rs1052133 (human) PMID:18559563|REF_RGD_ID:2317130 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1793 pancreatic cancer disease_progression ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphism: :2657G>A (human) PMID:17230526|REF_RGD_ID:2317132 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:1824 status epilepticus ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:18295498|REF_RGD_ID:2317139 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:2237 hepatitis ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:14633694|REF_RGD_ID:8657400 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:224 transient cerebral ischemia ISO RGD:621168 D RGD:9068941 20200609 RGD protein:increased expression:cerebral cortex PMID:14600440|REF_RGD_ID:8657406 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:2394 ovarian cancer susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP:intron: (rs2304277) (human) PMID:24698998|REF_RGD_ID:8657369 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:2513 basal cell carcinoma ISO RGD:1353911 D RGD:9068941 20200609 RGD PMID:22436579|REF_RGD_ID:8657137 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:2513 basal cell carcinoma no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation: :p.S326C (rs1052133)(human) PMID:15466987|REF_RGD_ID:8657158 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:2671 transitional cell carcinoma severity ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S326C (rs1052133) (human) PMID:22110223|REF_RGD_ID:8657372 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:2843 long QT syndrome ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:299 adenocarcinoma ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336973 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3042 allergic contact dermatitis ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:15677345|REF_RGD_ID:8657146 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3314 angiomyolipoma ISO RGD:1353911 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human) PMID:17932460|REF_RGD_ID:8657155 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3314 angiomyolipoma ISO RGD:1353911 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney PMID:19265534|REF_RGD_ID:8657154 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3314 angiomyolipoma no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human) PMID:17932460|REF_RGD_ID:8657155 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3393 coronary artery disease susceptibility ISO RGD:1353911 D RGD:9068941 20230928 RGD DNA:SNP,haplotype: :p.S326C (rs1052133) (human) PMID:23368530|REF_RGD_ID:401827273 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:621168 D RGD:9068941 20200609 RGD associated with Hypertension PMID:17920569|REF_RGD_ID:8657395 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:37 skin disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16759981 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3770 pulmonary fibrosis ISO RGD:1353911 D RGD:9068941 20220908 CTD CTD Direct Evidence: marker/mechanism PMID:35654123 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:3910 lung adenocarcinoma ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23951099 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:4450 renal cell carcinoma ISO RGD:1353911 D RGD:7240710 20180130 OMIM 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:4467 clear cell renal cell carcinoma ISO RGD:1353911 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Clear cell carcinoma of kidney PMID:10987279|PMID:12172214|PMID:19537786|PMID:21195604|PMID:25741868|PMID:9681819 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1353911 D RGD:9068941 20200609 RGD PMID:11866974|REF_RGD_ID:2317134 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity (human) PMID:11260864|REF_RGD_ID:2317136 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29709520 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:1353911 D RGD:9068941 20200609 RGD PMID:22081374|REF_RGD_ID:8657144 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:5520 head and neck squamous cell carcinoma susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP: :rs1052133 (human) PMID:21727658|REF_RGD_ID:8657147 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:630 genetic disease ISO RGD:1353911 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:678 progressive supranuclear palsy ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:increased expression:pontine nucleus, neuron PMID:15841414|REF_RGD_ID:8657142 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:83 cataract susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNP: :p.S326C (rs1052133)(human) PMID:22306120|REF_RGD_ID:8657151 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:SNPs: :rs2072668, p.S326C (rs1052133)(human) PMID:20564624|REF_RGD_ID:8657150 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9000011 Gallbladder Neoplasms susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:polymorphism: :p.S326C (human) PMID:19266243|REF_RGD_ID:2317128 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9000081 Lymphatic Metastasis ISO RGD:1353911 D RGD:9068941 20200609 RGD associated with breast cancer;DNA:missense mutation:cds:p.S326C (rs1052133) (human) PMID:18977234|REF_RGD_ID:8657156 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9001234 Prenatal Exposure Delayed Effects ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18768699 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:23053977|REF_RGD_ID:8657403 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9001686 Acute Coronary Syndrome susceptibility ISO RGD:1353911 D RGD:9068941 20230928 RGD DNA:SNP,haplotype: :p.S326C (rs1052133) (human) PMID:23368530|REF_RGD_ID:401827273 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9002221 Hyperplasia ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19336973 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9002304 Prostatic Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11956079|PMID:14634453 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9002910 Hearing Loss, Noise-Induced ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24599382 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9002910 Hearing Loss, Noise-Induced susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:exon:p.S326C (rs1052133) (human) PMID:24599382|REF_RGD_ID:8657374 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9002955 Nerve Degeneration ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26629949 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9003507 Premature Birth ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29709520 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9004643 Urologic Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26359225 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9004814 Chromosome Aberrations ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24036326 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9005172 Lung Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:17441966|PMID:19336973 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:18599524|REF_RGD_ID:8657153 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621168 D RGD:9068941 20200609 RGD protein:altered localization:pancreatic islet PMID:18676009|REF_RGD_ID:2317137 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:732766 D RGD:9068941 20200609 RGD PMID:15677345|REF_RGD_ID:8657146 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9005873 Tongue Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:decreased expression:saliva PMID:19789535|REF_RGD_ID:8657148 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:621168 D RGD:9068941 20200609 RGD PMID:12531391|REF_RGD_ID:2317150 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:1353911 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:33072095 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9007023 Prenatal Injuries ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24075420 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9007715 Endometrial Neoplasms ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) PMID:22271435|REF_RGD_ID:8657377 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9007715 Endometrial Neoplasms no_association ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:mutation:exon:p.S326C (1245C>G, rs1052133) (human) PMID:22544315|REF_RGD_ID:8657379 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1353911 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22652274 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9352 type 2 diabetes mellitus ISO RGD:1353911 D RGD:9068941 20200609 RGD protein:increased expression:pancreatic islet, mitochondrion PMID:12003641|REF_RGD_ID:2317133 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:936 brain disease ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24075420 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9669 senile cataract susceptibility ISO RGD:1353911 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.S326C (human) PMID:24868140|REF_RGD_ID:10401084 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9923 developmental coordination disorder ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18768699 9060672 Ogg1 8-oxoguanine DNA glycosylase gene DOID:9970 obesity ISO RGD:1353911 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29709520 9060687 Thoc3 THO complex 3 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1323248 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9060687 Thoc3 THO complex 3 gene DOID:14748 Sotos syndrome ISO RGD:1323248 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9060687 Thoc3 THO complex 3 gene DOID:630 genetic disease ISO RGD:1323248 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060697 Lix1 limb and CNS expressed 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1343566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9060697 Lix1 limb and CNS expressed 1 gene DOID:630 genetic disease ISO RGD:1343566 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060697 Lix1 limb and CNS expressed 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343566 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9060697 Lix1 limb and CNS expressed 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1343566 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9060707 Odad4 outer dynein arm docking complex subunit 4 gene DOID:0050545 visceral heterotaxy ISO RGD:1606214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Situs ambiguus 9060707 Odad4 outer dynein arm docking complex subunit 4 gene DOID:0110620 primary ciliary dyskinesia 35 ISO RGD:1606214 D RGD:7240710 20190315 OMIM 9060707 Odad4 outer dynein arm docking complex subunit 4 gene DOID:0110620 primary ciliary dyskinesia 35 ISO RGD:1606214 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 35 PMID:25741868|PMID:27486780 9060707 Odad4 outer dynein arm docking complex subunit 4 gene DOID:630 genetic disease ISO RGD:1606214 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060707 Odad4 outer dynein arm docking complex subunit 4 gene DOID:758 situs inversus ISO RGD:1606214 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laterality sequence 9060707 Odad4 outer dynein arm docking complex subunit 4 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1606214 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868 9060752 Manf mesencephalic astrocyte derived neurotrophic factor gene DOID:0080855 Parkinsonism ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:19641128|REF_RGD_ID:2325813 9060752 Manf mesencephalic astrocyte derived neurotrophic factor gene DOID:1612 breast cancer susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8971156|REF_RGD_ID:1599219 9060752 Manf mesencephalic astrocyte derived neurotrophic factor gene DOID:1749 squamous cell carcinoma susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8971156|REF_RGD_ID:1599219 9060752 Manf mesencephalic astrocyte derived neurotrophic factor gene DOID:1793 pancreatic cancer ISO RGD:1316336 D RGD:9068941 20200609 RGD DNA:point mutations, deletions:cds:multiple (human) PMID:9174057|REF_RGD_ID:2325804 9060752 Manf mesencephalic astrocyte derived neurotrophic factor gene DOID:1793 pancreatic cancer no_association ISO RGD:1316336 D RGD:9068941 20200609 RGD DNA:polymorphisms: :multiple (human) PMID:17072959|REF_RGD_ID:2317157 9060752 Manf mesencephalic astrocyte derived neurotrophic factor gene DOID:3908 lung non-small cell carcinoma susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8971156|REF_RGD_ID:1599219 9060752 Manf mesencephalic astrocyte derived neurotrophic factor gene DOID:4450 renal cell carcinoma susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8649854|REF_RGD_ID:1599220 9060752 Manf mesencephalic astrocyte derived neurotrophic factor gene DOID:630 genetic disease ISO RGD:1316336 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060752 Manf mesencephalic astrocyte derived neurotrophic factor gene DOID:9002304 Prostatic Neoplasms susceptibility ISO RGD:1316336 D RGD:9068941 20200609 RGD PMID:8971156|REF_RGD_ID:1599219 9060752 Manf mesencephalic astrocyte derived neurotrophic factor gene DOID:9004009 Reperfusion Injury ISO RGD:1307252 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19773801|REF_RGD_ID:2325809 9060752 Manf mesencephalic astrocyte derived neurotrophic factor gene DOID:9008819 Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome ISO RGD:1316336 D RGD:7240710 20231213 OMIM 9060752 Manf mesencephalic astrocyte derived neurotrophic factor gene DOID:9008819 Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome ISO RGD:1316336 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome PMID:26077850|PMID:33500254 9060759 LOC102010294 chromosome unknown open reading frame, human C4orf50 gene DOID:6678 tooth and nail syndrome ISO RGD:1602802 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome PMID:10742093|PMID:14630905|PMID:28492532|PMID:9742121 9060773 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:0050727 tyrosinemia type III ISO RGD:731782 D RGD:7240710 20180725 OMIM 9060773 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:0050727 tyrosinemia type III ISO RGD:731782 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tyrosinemia type III PMID:10942115|PMID:17560158|PMID:19630565|PMID:23036342|PMID:25255367|PMID:25741868|PMID:28492532|PMID:28649543|PMID:31028937|PMID:31069529|PMID:31589614|PMID:32109208|PMID:32520295|PMID:9343288 9060773 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:0111362 hawkinsinuria ISO RGD:731782 D RGD:7240710 20180130 OMIM 9060773 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:0111362 hawkinsinuria ISO RGD:731782 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hawkinsinuria PMID:10942115|PMID:11073718|PMID:1130176|PMID:1519651|PMID:16199547|PMID:17560158|PMID:17576681|PMID:19630565|PMID:23036342|PMID:25255367|PMID:25741868|PMID:26226126|PMID:28492532|PMID:28649543|PMID:30984715|PMID:31028937|PMID:31069529|PMID:31589614|PMID:32520295|PMID:858207|PMID:9536098 9060773 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:630 genetic disease ISO RGD:731782 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9060773 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:731782 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16099942|PMID:22872058 9060773 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:9008086 Developmental Disabilities ISO RGD:731782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:32581362 9060773 Hpd 4-hydroxyphenylpyruvate dioxygenase gene DOID:9275 tyrosinemia ISO RGD:731782 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertyrosinemia 9060796 Rnf168 ring finger protein 168 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1347950 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 9060796 Rnf168 ring finger protein 168 gene DOID:0090113 Riddle syndrome ISO RGD:1347950 D RGD:7240710 20180130 OMIM 9060796 Rnf168 ring finger protein 168 gene DOID:0090113 Riddle syndrome ISO RGD:1347950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RIDDLE syndrome PMID:19203578|PMID:21394101|PMID:24033266|PMID:25741868|PMID:28492532 9060796 Rnf168 ring finger protein 168 gene DOID:12849 autistic disorder ISO RGD:1347950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9060796 Rnf168 ring finger protein 168 gene DOID:1749 squamous cell carcinoma ISO RGD:1347950 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34873829 9060796 Rnf168 ring finger protein 168 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1347950 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34873829 9060796 Rnf168 ring finger protein 168 gene DOID:5419 schizophrenia ISO RGD:1347950 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9060796 Rnf168 ring finger protein 168 gene DOID:630 genetic disease ISO RGD:1347950 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9060796 Rnf168 ring finger protein 168 gene DOID:9000918 Disease Progression ISO RGD:1347950 D RGD:9068941 20220811 CTD CTD Direct Evidence: marker/mechanism PMID:34873829 9060808 Nodal nodal growth differentiation factor gene DOID:0050545 visceral heterotaxy ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral heterotaxy PMID:19064609|PMID:25741868|PMID:28492532 9060808 Nodal nodal growth differentiation factor gene DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 PMID:28492532 9060808 Nodal nodal growth differentiation factor gene DOID:1682 congenital heart disease ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:19064609|PMID:25741868|PMID:31680349 9060808 Nodal nodal growth differentiation factor gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:19064609|PMID:25741868|PMID:28492532 9060808 Nodal nodal growth differentiation factor gene DOID:4621 holoprosencephaly ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:19064609|PMID:19553149|PMID:22352765|PMID:24033266|PMID:25741868|PMID:28492532 9060808 Nodal nodal growth differentiation factor gene DOID:630 genetic disease ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19064609|PMID:25741868|PMID:28492532 9060808 Nodal nodal growth differentiation factor gene DOID:758 situs inversus ISO RGD:1314354 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Situs inversus PMID:19064609|PMID:19553149|PMID:25741868 9060808 Nodal nodal growth differentiation factor gene DOID:769 neuroblastoma ISO RGD:1314354 D RGD:9068941 20220922 RGD mRNA:increased expression:neural tissue (human) PMID:30985990|REF_RGD_ID:155226876 9060808 Nodal nodal growth differentiation factor gene DOID:9002116 Congenitally Corrected Transposition of the Great Arteries ISO RGD:1314354 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenitally corrected transposition of the great arteries PMID:25741868 9060808 Nodal nodal growth differentiation factor gene DOID:9007098 Pulmonary Atresia susceptibility ISO RGD:1314354 D RGD:9068941 20220922 RGD DNA:mutations PMID:19064609|REF_RGD_ID:11568370 9060808 Nodal nodal growth differentiation factor gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1314354 D RGD:7240710 20180130 OMIM 9060808 Nodal nodal growth differentiation factor gene DOID:9008288 Visceral Heterotaxy 5, Autosomal ISO RGD:1314354 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal | ClinVar Annotator: match by term: NODAL-Related Disorders PMID:12447384|PMID:16199547|PMID:17576681|PMID:18579681|PMID:19064609|PMID:19553149|PMID:19933292|PMID:22352765|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29368431|PMID:9354794|PMID:9536098 9060814 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0110004 3-methylglutaconic aciduria type 3 ISO RGD:1319326 D RGD:7240710 20180130 OMIM 9060814 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0110004 3-methylglutaconic aciduria type 3 ISO RGD:1319326 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome PMID:11668429|PMID:12126933|PMID:15342707|PMID:15902555|PMID:17576681|PMID:18985435|PMID:20301646|PMID:20350831|PMID:23700088|PMID:24136862|PMID:24749080|PMID:25159689|PMID:25201222|PMID:25205859|PMID:25741868|PMID:26190011|PMID:27528516|PMID:27629047|PMID:28081242|PMID:28492532|PMID:31119193|PMID:32855858|PMID:32883240|PMID:9536098 9060814 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0111433 optic atrophy 3 ISO RGD:1319326 D RGD:7240710 20180130 OMIM 9060814 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0111433 optic atrophy 3 ISO RGD:1319326 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Optic atrophy 3 PMID:13703570|PMID:15342707|PMID:20301646|PMID:24136862|PMID:25159689|PMID:25205859|PMID:25741868|PMID:28081242|PMID:28492532|PMID:32855858|PMID:32883240 9060814 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:0111441 optic atrophy 1 ISO RGD:1319326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Optic Atrophy, Dominant 9060814 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:13911 achromatopsia ISO RGD:1319326 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:25741868|PMID:28492532 9060814 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:630 genetic disease ISO RGD:1319326 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9060814 Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 gene DOID:9001923 Foveal Hypoplasia ISO RGD:1319326 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Foveal hypoplasia PMID:31696227 9060830 Pla2g10 phospholipase A2 group X gene DOID:630 genetic disease ISO RGD:736427 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060838 Znf605 zinc finger protein 605 gene DOID:630 genetic disease ISO RGD:1353121 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060838 Znf605 zinc finger protein 605 gene DOID:9256 colorectal cancer ISO RGD:1353121 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:23230001|PMID:25948378|PMID:28492532|PMID:30503519 9060849 Sacs sacsin molecular chaperone gene DOID:0050942 spastic ataxia 3 ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive spastic ataxia PMID:20876471|PMID:21450511|PMID:24033266|PMID:24180463|PMID:25741868 9060849 Sacs sacsin molecular chaperone gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1316383 D RGD:7240710 20180130 OMIM 9060849 Sacs sacsin molecular chaperone gene DOID:0050946 Charlevoix-Saguenay spastic ataxia ISO RGD:1316383 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition PMID:10053011|PMID:10610707|PMID:10655055|PMID:11788093|PMID:12873855|PMID:14718706|PMID:14718707|PMID:14718708|PMID:15156359|PMID:15486997|PMID:15985586|PMID:16007637|PMID:16198375|PMID:16606928|PMID:16944349|PMID:16961075|PMID:17516465|PMID:17576681|PMID:18414213|PMID:18439928|PMID:18465152|PMID:18484239|PMID:18569450|PMID:18604465|PMID:19208651|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20368637|PMID:20798953|PMID:20852969|PMID:20876471|PMID:21410841|PMID:21450511|PMID:21507954|PMID:21665375|PMID:21745802|PMID:21993619|PMID:22209141|PMID:22287014|PMID:22307627|PMID:22751902|PMID:22816526|PMID:22892508|PMID:23043354|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23338241|PMID:23497566|PMID:23598833|PMID:24033266|PMID:24108619|PMID:24164681|PMID:24180463|PMID:24318559|PMID:24384335|PMID:24457356|PMID:25237835|PMID:25260547|PMID:25326637|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25819952|PMID:25887915|PMID:26010040|PMID:26068213|PMID:26288984|PMID:26302956|PMID:26366743|PMID:26410750|PMID:26467025|PMID:26530509|PMID:26539891|PMID:27133561|PMID:27142713|PMID:27217339|PMID:27288452|PMID:27391121|PMID:27433545|PMID:27871429|PMID:27965395|PMID:27980752|PMID:28251916|PMID:28362824|PMID:28454995|PMID:28491899|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:28972115|PMID:29220673|PMID:29277257|PMID:29379980|PMID:29389947|PMID:29417091|PMID:29453517|PMID:29482223|PMID:29538656|PMID:29858556|PMID:29915382|PMID:29945973|PMID:29968200|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30866998|PMID:30901567|PMID:31069529|PMID:31230722|PMID:31429931|PMID:31475473|PMID:31493945|PMID:31519934|PMID:31637422|PMID:31673878|PMID:31692161|PMID:31743419|PMID:31920494|PMID:31980526|PMID:32140197|PMID:32488064|PMID:32606552|PMID:32816195|PMID:33414805|PMID:33624863|PMID:33746006|PMID:33956305|PMID:34121011|PMID:34426522|PMID:34600502|PMID:34649874|PMID:34663476|PMID:34758253|PMID:34786481|PMID:34816117|PMID:35130357|PMID:35326432|PMID:35578252|PMID:35731353|PMID:36233161|PMID:9536098|PMID:9892370 9060849 Sacs sacsin molecular chaperone gene DOID:0050951 hereditary ataxia ISO RGD:1316383 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:19892370|PMID:23250129|PMID:23280630|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29945973|PMID:30866998|PMID:30901567|PMID:35326432 9060849 Sacs sacsin molecular chaperone gene DOID:0050952 spastic ataxia ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532 9060849 Sacs sacsin molecular chaperone gene DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:18465152|PMID:20876471|PMID:25741868|PMID:28492532 9060849 Sacs sacsin molecular chaperone gene DOID:0110274 autosomal recessive limb-girdle muscular dystrophy ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 9060849 Sacs sacsin molecular chaperone gene DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:18285821|PMID:18398442|PMID:18414213|PMID:19031088|PMID:19208398|PMID:24033266|PMID:24180463|PMID:25741868|PMID:26467025|PMID:28492532 9060849 Sacs sacsin molecular chaperone gene DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sarcoglycanopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 9060849 Sacs sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27433545|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30680480|PMID:31637422|PMID:31673878|PMID:33624863 9060849 Sacs sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27433545|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863 9060849 Sacs sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863 9060849 Sacs sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863|PMID:34600502 9060849 Sacs sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863|PMID:34600502|PMID:36233161 9060849 Sacs sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21450511|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27965395|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30901567|PMID:31637422|PMID:31673878|PMID:33624863|PMID:34426522|PMID:34600502|PMID:34786481|PMID:36233161 9060849 Sacs sacsin molecular chaperone gene DOID:2476 hereditary spastic paraplegia ISO RGD:1316383 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia PMID:10610707|PMID:10655055|PMID:11788093|PMID:14718706|PMID:15156359|PMID:18414213|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20852969|PMID:20876471|PMID:21450511|PMID:21507954|PMID:21745802|PMID:22287014|PMID:22307627|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23497566|PMID:24108619|PMID:24457356|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25887915|PMID:26302956|PMID:26410750|PMID:26467025|PMID:26539891|PMID:27288452|PMID:27433545|PMID:27871429|PMID:27965395|PMID:27980752|PMID:28251916|PMID:28454995|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:29220673|PMID:29379980|PMID:29449188|PMID:29482223|PMID:29538656|PMID:29915382|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30901567|PMID:31519934|PMID:31637422|PMID:31673878|PMID:33624863|PMID:34426522|PMID:34600502|PMID:34786481|PMID:36233161 9060849 Sacs sacsin molecular chaperone gene DOID:2661 myoepithelioma ISO RGD:1316383 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myoepithelial tumor 9060849 Sacs sacsin molecular chaperone gene DOID:5419 schizophrenia ISO RGD:1316383 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9060849 Sacs sacsin molecular chaperone gene DOID:607 paraplegia ISO RGD:1316383 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10053011|PMID:10610707|PMID:10655055|PMID:11788093|PMID:12873855|PMID:14718706|PMID:14718707|PMID:15156359|PMID:15486997|PMID:16007637|PMID:16198375|PMID:16199547|PMID:16944349|PMID:17290461|PMID:17516465|PMID:17576681|PMID:18285821|PMID:18398442|PMID:18414213|PMID:18439928|PMID:18465152|PMID:18604465|PMID:19031088|PMID:19208398|PMID:19208651|PMID:19763152|PMID:19779133|PMID:19892370|PMID:20301432|PMID:20307669|PMID:20368637|PMID:20798953|PMID:20852969|PMID:20876471|PMID:21410841|PMID:21416271|PMID:21450511|PMID:21507954|PMID:21665375|PMID:21745802|PMID:21993619|PMID:22287014|PMID:22307627|PMID:22406018|PMID:22816526|PMID:23043354|PMID:23123642|PMID:23250129|PMID:23280630|PMID:23338241|PMID:23497566|PMID:23785480|PMID:24033266|PMID:24108619|PMID:24164681|PMID:24180463|PMID:24457356|PMID:25260547|PMID:25326637|PMID:25401298|PMID:25405613|PMID:25497598|PMID:25741868|PMID:25819952|PMID:25887915|PMID:26068213|PMID:26288984|PMID:26302956|PMID:26366743|PMID:26410750|PMID:26467025|PMID:26530509|PMID:26539891|PMID:27133561|PMID:27142713|PMID:27217339|PMID:27288452|PMID:27391121|PMID:27433545|PMID:27600236|PMID:27871429|PMID:27965395|PMID:27980752|PMID:28251916|PMID:28330790|PMID:28454995|PMID:28491899|PMID:28492532|PMID:28535259|PMID:28641335|PMID:28658401|PMID:28832565|PMID:28972115|PMID:29093530|PMID:29220673|PMID:29277257|PMID:29321516|PMID:29379980|PMID:29389947|PMID:29417091|PMID:29449188|PMID:29453517|PMID:29482223|PMID:29538656|PMID:29858556|PMID:29915382|PMID:29945973|PMID:29968200|PMID:30271475|PMID:30460542|PMID:30638817|PMID:30680480|PMID:30866998|PMID:30901567|PMID:31069529|PMID:31230722|PMID:31429931|PMID:31475473|PMID:31493945|PMID:31519934|PMID:31637422|PMID:31673878|PMID:31692161|PMID:31920494|PMID:31980526|PMID:32140197|PMID:32488064|PMID:32581362|PMID:32606552|PMID:32816195|PMID:33414805|PMID:33624863|PMID:33746006|PMID:34121011|PMID:34426522|PMID:34600502|PMID:34649874|PMID:34663476|PMID:34758253|PMID:34786481|PMID:34816117|PMID:35130357|PMID:35326432|PMID:35578252|PMID:35731353|PMID:36233161|PMID:9536098|PMID:9892370 9060849 Sacs sacsin molecular chaperone gene DOID:630 genetic disease ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15156359|PMID:18465152|PMID:19779133|PMID:19892370|PMID:20488193|PMID:21507954|PMID:21745802|PMID:23123642|PMID:23280630|PMID:23497566|PMID:24108619|PMID:25741868|PMID:25819952|PMID:26288984|PMID:26467025|PMID:27288452|PMID:28491899|PMID:28492532|PMID:28658401|PMID:29538656|PMID:29915382|PMID:31493945|PMID:33624863|PMID:33746006|PMID:35578252 9060849 Sacs sacsin molecular chaperone gene DOID:891 progressive myoclonus epilepsy ISO RGD:1316383 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25401298 9060849 Sacs sacsin molecular chaperone gene DOID:9009163 ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION ISO RGD:1316383 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation PMID:15156359|PMID:21507954|PMID:25741868|PMID:28492532|PMID:30460542|PMID:31692161 9060849 Sacs sacsin molecular chaperone gene DOID:9277 primary cerebellar degeneration ISO RGD:1316383 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary ataxia PMID:19892370|PMID:23250129|PMID:23280630|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29945973|PMID:30866998|PMID:30901567|PMID:35326432 9060860 Parn poly(A)-specific ribonuclease gene DOID:0050156 idiopathic pulmonary fibrosis ISO RGD:1348471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25848748 9060860 Parn poly(A)-specific ribonuclease gene DOID:0070024 autosomal recessive dyskeratosis congenita 6 ISO RGD:1348471 D RGD:7240710 20180130 OMIM 9060860 Parn poly(A)-specific ribonuclease gene DOID:0070024 autosomal recessive dyskeratosis congenita 6 ISO RGD:1348471 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 PMID:16199547|PMID:17576681|PMID:22834816|PMID:25640679|PMID:25741868|PMID:25848748|PMID:25893599|PMID:26342108|PMID:26482878|PMID:26810774|PMID:28099038|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:30523342|PMID:30525901|PMID:31268371|PMID:31448843|PMID:34298581|PMID:9536098|PMID:9736620 9060860 Parn poly(A)-specific ribonuclease gene DOID:0110848 xeroderma pigmentosum group F ISO RGD:1348471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group F PMID:28492532 9060860 Parn poly(A)-specific ribonuclease gene DOID:2729 dyskeratosis congenita ISO RGD:1348471 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:25893599 9060860 Parn poly(A)-specific ribonuclease gene DOID:3770 pulmonary fibrosis ISO RGD:1348471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:16199547|PMID:25741868|PMID:25848748|PMID:26482878|PMID:26810774|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:30525901|PMID:9736620 9060860 Parn poly(A)-specific ribonuclease gene DOID:630 genetic disease ISO RGD:1348471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:28492532|PMID:30523342|PMID:31268371|PMID:9536098 9060860 Parn poly(A)-specific ribonuclease gene DOID:9002685 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 ISO RGD:1348471 D RGD:7240710 20180130 OMIM 9060860 Parn poly(A)-specific ribonuclease gene DOID:9002685 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 ISO RGD:1348471 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 PMID:16199547|PMID:16281054|PMID:22834816|PMID:25741868|PMID:25848748|PMID:26342108|PMID:26482878|PMID:26810774|PMID:28192371|PMID:28414520|PMID:28492532|PMID:28495692|PMID:31448843|PMID:34298581|PMID:9736620 9060906 Smim4 small integral membrane protein 4 gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1603140 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 9060906 Smim4 small integral membrane protein 4 gene DOID:630 genetic disease ISO RGD:1603140 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060919 Rgs21 regulator of G protein signaling 21 gene DOID:1540 parathyroid carcinoma ISO RGD:1353958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9060919 Rgs21 regulator of G protein signaling 21 gene DOID:630 genetic disease ISO RGD:1353958 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060919 Rgs21 regulator of G protein signaling 21 gene DOID:9006675 Hyperparathyroidism 1 ISO RGD:1353958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism 1 PMID:21681106|PMID:28774260 9060919 Rgs21 regulator of G protein signaling 21 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353958 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9060925 Thpo thrombopoietin gene DOID:0050700 cardiomyopathy ISO RGD:1351706 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16651473 9060925 Thpo thrombopoietin gene DOID:0080556 congenital disorder of glycosylation Id ISO RGD:1351706 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 9060925 Thpo thrombopoietin gene DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency ISO RGD:1351706 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1 PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532 9060925 Thpo thrombopoietin gene DOID:0111546 Currarino syndrome ISO RGD:1351706 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Currarino triad PMID:21681106|PMID:27549440 9060925 Thpo thrombopoietin gene DOID:12449 aplastic anemia ISO RGD:1351706 D RGD:9068941 20200609 RGD DNA:mutation:cds:c.112C>T(human) PMID:24085763|REF_RGD_ID:11073680 9060925 Thpo thrombopoietin gene DOID:12449 aplastic anemia no_association ISO RGD:1351706 D RGD:9068941 20200609 RGD DNA:SNPs:exons: PMID:22686250|REF_RGD_ID:11073679 9060925 Thpo thrombopoietin gene DOID:14115 toxic shock syndrome ISO RGD:1351706 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:20467749|REF_RGD_ID:10449021 9060925 Thpo thrombopoietin gene DOID:1588 thrombocytopenia ISO RGD:1351706 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:25741868|PMID:28466964|PMID:28559357|PMID:31064749|PMID:32150607 9060925 Thpo thrombopoietin gene DOID:2213 hemorrhagic disease ISO RGD:1351706 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:25741868|PMID:31064749|PMID:32150607 9060925 Thpo thrombopoietin gene DOID:2224 essential thrombocythemia ISO RGD:1351706 D RGD:7240710 20180130 OMIM 9060925 Thpo thrombopoietin gene DOID:2224 essential thrombocythemia ISO RGD:1351706 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:10583217|PMID:16199547|PMID:19553636|PMID:22194398|PMID:22453305|PMID:25741868|PMID:28492532|PMID:28955303|PMID:32430933|PMID:36226497|PMID:7772529|PMID:9425899|PMID:9694695 9060925 Thpo thrombopoietin gene DOID:2228 thrombocytosis ISO RGD:1351706 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:15813844|PMID:33122006 9060925 Thpo thrombopoietin gene DOID:2228 thrombocytosis susceptibility ISO RGD:1351706 D RGD:9068941 20200609 RGD DNA:deletion:5' utr PMID:9694695|REF_RGD_ID:1601655 9060925 Thpo thrombopoietin gene DOID:5082 liver cirrhosis ISO RGD:1351706 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:9794189|REF_RGD_ID:1580082 9060925 Thpo thrombopoietin gene DOID:5160 arteriosclerosis obliterans ISO RGD:1351706 D RGD:9068941 20200609 RGD PMID:10822072|REF_RGD_ID:1601656 9060925 Thpo thrombopoietin gene DOID:630 genetic disease ISO RGD:1351706 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24085763|PMID:28492532|PMID:29191945 9060925 Thpo thrombopoietin gene DOID:6432 pulmonary hypertension ISO RGD:1351706 D RGD:9068941 20200609 RGD protein:increased expression:pulmonary artery, plasma PMID:12487786|REF_RGD_ID:1580087 9060925 Thpo thrombopoietin gene DOID:9006669 Thrombocytopenia 9 ISO RGD:1351706 D RGD:7240710 20230906 OMIM 9060925 Thpo thrombopoietin gene DOID:9006669 Thrombocytopenia 9 ISO RGD:1351706 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 9 PMID:25741868|PMID:28466964|PMID:28492532|PMID:28559357|PMID:31064749|PMID:32150607 9060925 Thpo thrombopoietin gene DOID:9007096 Stroke ISO RGD:1351706 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:18367486|PMID:25741868 9060925 Thpo thrombopoietin gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:1351706 D RGD:9068941 20210416 CTD CTD Direct Evidence: therapeutic PMID:33122006 9060925 Thpo thrombopoietin gene DOID:9009110 Congenital Amegakaryocytic Thrombocytopenia 2 ISO RGD:1351706 D RGD:7240710 20230906 OMIM 9060925 Thpo thrombopoietin gene DOID:9009110 Congenital Amegakaryocytic Thrombocytopenia 2 ISO RGD:1351706 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Amegakaryocytic thrombocytopenia, congenital, 2 PMID:24085763|PMID:25741868|PMID:28492532|PMID:28559357|PMID:29191945|PMID:32150607|PMID:36226497 9060940 Plbd2 phospholipase B domain containing 2 gene DOID:630 genetic disease ISO RGD:1606689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060955 Zdhhc4 zinc finger DHHC-type palmitoyltransferase 4 gene DOID:630 genetic disease ISO RGD:1318128 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060975 Plekha6 pleckstrin homology domain containing A6 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:1353676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9060975 Plekha6 pleckstrin homology domain containing A6 gene DOID:12849 autistic disorder ISO RGD:1353676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9060975 Plekha6 pleckstrin homology domain containing A6 gene DOID:1540 parathyroid carcinoma ISO RGD:1353676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9060975 Plekha6 pleckstrin homology domain containing A6 gene DOID:630 genetic disease ISO RGD:1353676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9060975 Plekha6 pleckstrin homology domain containing A6 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:1353676 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9060975 Plekha6 pleckstrin homology domain containing A6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1353676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9061053 Scyl2 SCY1 like pseudokinase 2 gene DOID:0080980 arthrogryposis multiplex congenita-4 ISO RGD:1343640 D RGD:7240710 20200318 OMIM 9061053 Scyl2 SCY1 like pseudokinase 2 gene DOID:0080980 arthrogryposis multiplex congenita-4 ISO RGD:1343640 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum PMID:25741868|PMID:31960134 9061053 Scyl2 SCY1 like pseudokinase 2 gene DOID:630 genetic disease ISO RGD:1343640 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061078 Ndn necdin, MAGE family member gene DOID:0060041 autism spectrum disorder ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21844811|PMID:23044707|PMID:23495136|PMID:25741868|PMID:27569545 9061078 Ndn necdin, MAGE family member gene DOID:0060393 chromosome 15q11.2 deletion syndrome ISO RGD:1321479 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:25741868|PMID:31690835 9061078 Ndn necdin, MAGE family member gene DOID:11983 Prader-Willi syndrome ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:28631899 9061078 Ndn necdin, MAGE family member gene DOID:12849 autistic disorder ISO RGD:1321479 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome PMID:21681106|PMID:25741868|PMID:30208311|PMID:31690835 9061078 Ndn necdin, MAGE family member gene DOID:1932 Angelman syndrome ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:24088041|PMID:26633545 9061078 Ndn necdin, MAGE family member gene DOID:305 carcinoma ISO RGD:1321479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 9061078 Ndn necdin, MAGE family member gene DOID:5419 schizophrenia ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9061078 Ndn necdin, MAGE family member gene DOID:630 genetic disease ISO RGD:1321479 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061078 Ndn necdin, MAGE family member gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1321479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 9061078 Ndn necdin, MAGE family member gene DOID:9003996 Birth Weight ISO RGD:1321479 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31082282 9061078 Ndn necdin, MAGE family member gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1321479 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9061084 Xkrx XK related X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1345703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9061084 Xkrx XK related X-linked gene DOID:0060848 developmental and epileptic encephalopathy 9 ISO RGD:1345703 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 9061084 Xkrx XK related X-linked gene DOID:0060875 isolated growth hormone deficiency type III ISO RGD:1345703 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:28492532 9061084 Xkrx XK related X-linked gene DOID:12849 autistic disorder ISO RGD:1345703 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9061084 Xkrx XK related X-linked gene DOID:630 genetic disease ISO RGD:1345703 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061084 Xkrx XK related X-linked gene DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED ISO RGD:1345703 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 9061104 Itga1 integrin subunit alpha 1 gene DOID:0080600 COVID-19 ISO RGD:69006 D RGD:9068941 20200625 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9061104 Itga1 integrin subunit alpha 1 gene DOID:1612 breast cancer ISO RGD:69006 D RGD:9068941 20200609 RGD protein:decreased expression:tumor:down-regulated in tumors lacking a basement membrane PMID:9408292|REF_RGD_ID:2302120 9061104 Itga1 integrin subunit alpha 1 gene DOID:2349 arteriosclerosis ISO RGD:69007 D RGD:9068941 20200609 RGD atherosclerosis; DNA:knockout::genetic knockout or treatment with a blocking antibody reduced atherosclerotic inflammation and plaque formation in ApoE-/- mice PMID:15976328|REF_RGD_ID:2302133 9061104 Itga1 integrin subunit alpha 1 gene DOID:630 genetic disease ISO RGD:69006 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061104 Itga1 integrin subunit alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:2923 D RGD:9068941 20200609 RGD PGE2-induced PMID:14984413|REF_RGD_ID:2302389 9061104 Itga1 integrin subunit alpha 1 gene DOID:9002211 Hyperalgesia ISO RGD:2923 D RGD:9068941 20200609 RGD knock-down using a specific monoclonal antibody or RNAi PMID:15836982|REF_RGD_ID:2302139 9061104 Itga1 integrin subunit alpha 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:69006 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9061104 Itga1 integrin subunit alpha 1 gene DOID:9007402 Gliosis ISO RGD:69006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12851778 9061104 Itga1 integrin subunit alpha 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69006 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30718926 9061137 Ttc21a tetratricopeptide repeat domain 21A gene DOID:0111927 spermatogenic failure 37 ISO RGD:1348204 D RGD:7240710 20190612 OMIM 9061137 Ttc21a tetratricopeptide repeat domain 21A gene DOID:0111927 spermatogenic failure 37 ISO RGD:1348204 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 37 PMID:30929735 9061137 Ttc21a tetratricopeptide repeat domain 21A gene DOID:630 genetic disease ISO RGD:1348204 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061175 Akt1s1 AKT1 substrate 1 gene DOID:630 genetic disease ISO RGD:1323832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061175 Akt1s1 AKT1 substrate 1 gene DOID:9000039 Spinal Cord Injuries ISO RGD:1323832 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17457363 9061175 Akt1s1 AKT1 substrate 1 gene DOID:9004009 Reperfusion Injury ISO RGD:1323832 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16397181 9061206 Il17a interleukin 17A gene DOID:0050073 invasive aspergillosis severity ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:21807912|REF_RGD_ID:8698654 9061206 Il17a interleukin 17A gene DOID:0050169 cutaneous lupus erythematosus ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (human) PMID:20493423|REF_RGD_ID:8698667 9061206 Il17a interleukin 17A gene DOID:0060180 colitis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:14962796|REF_RGD_ID:4888509 9061206 Il17a interleukin 17A gene DOID:0060180 colitis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:20881082|REF_RGD_ID:4781448 9061206 Il17a interleukin 17A gene DOID:0060180 colitis ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24548422 9061206 Il17a interleukin 17A gene DOID:0060189 ileitis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum PMID:18536735|REF_RGD_ID:4837793 9061206 Il17a interleukin 17A gene DOID:0060318 acute promyelocytic leukemia ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 9061206 Il17a interleukin 17A gene DOID:0060704 lymphoproliferative syndrome ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 9061206 Il17a interleukin 17A gene DOID:0080162 lupus nephritis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:25129462|REF_RGD_ID:9244623 9061206 Il17a interleukin 17A gene DOID:0080600 COVID-19 severity ISO RGD:735883 D RGD:9068941 20200619 RGD protein:increased expression:plasma (human) PMID:31986264|REF_RGD_ID:30309212 9061206 Il17a interleukin 17A gene DOID:0080998 acute necrotizing pancreatitis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:pancreas, serum (rat) PMID:22990529|REF_RGD_ID:9068935 9061206 Il17a interleukin 17A gene DOID:0081267 graft-versus-host disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22077062 9061206 Il17a interleukin 17A gene DOID:1024 leprosy severity ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA:decreased expression:epidermis (human) PMID:22641009|REF_RGD_ID:8698644 9061206 Il17a interleukin 17A gene DOID:10247 pleurisy treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:21898269|REF_RGD_ID:7175307 9061206 Il17a interleukin 17A gene DOID:10325 silicosis ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:20421647|REF_RGD_ID:4888525 9061206 Il17a interleukin 17A gene DOID:10754 otitis media severity ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24664502|REF_RGD_ID:8698659 9061206 Il17a interleukin 17A gene DOID:10763 hypertension ISO RGD:735883 D RGD:9068941 20230720 RGD protein:increased expression:blood serum (human) PMID:26502942|REF_RGD_ID:329955577 9061206 Il17a interleukin 17A gene DOID:10966 lipoid nephrosis ISO RGD:2888 D RGD:9068941 20200609 RGD Protein:increased expression:plasma (rat) PMID:22772331|REF_RGD_ID:9068937 9061206 Il17a interleukin 17A gene DOID:11263 chlamydia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:19812198|REF_RGD_ID:4889101 9061206 Il17a interleukin 17A gene DOID:11263 chlamydia ISO RGD:10787 D RGD:9068941 20200609 RGD associated with Bronchial Hyprractivity; mRNA:increased expression:lung PMID:20228193|REF_RGD_ID:4888528 9061206 Il17a interleukin 17A gene DOID:11265 trachoma ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA:increased expression:conjunctiva (human) PMID:21911461|REF_RGD_ID:9068420 9061206 Il17a interleukin 17A gene DOID:11382 corneal neovascularization treatment ISO RGD:10787 D RGD:9068941 20200609 RGD associated with Herpes Simplex PMID:22379030|REF_RGD_ID:9068451 9061206 Il17a interleukin 17A gene DOID:11396 pulmonary edema ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28600744 9061206 Il17a interleukin 17A gene DOID:1205 allergic disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 9061206 Il17a interleukin 17A gene DOID:12306 vitiligo ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:22342018|REF_RGD_ID:8663475 9061206 Il17a interleukin 17A gene DOID:12361 Graves' disease ISO RGD:735883 D RGD:9068941 20210416 CTD CTD Direct Evidence: marker/mechanism PMID:33132244 9061206 Il17a interleukin 17A gene DOID:12361 Graves' disease susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:snp:intron:IVS1+18G>A (rs3819025) (human) PMID:22816799|REF_RGD_ID:9068423 9061206 Il17a interleukin 17A gene DOID:1273 respiratory syncytial virus infectious disease severity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:19738511|REF_RGD_ID:4889103 9061206 Il17a interleukin 17A gene DOID:1287 cardiovascular system disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 9061206 Il17a interleukin 17A gene DOID:12894 Sjogren's syndrome ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:21182786|REF_RGD_ID:8696035 9061206 Il17a interleukin 17A gene DOID:13141 uveitis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:19373578|REF_RGD_ID:4888523 9061206 Il17a interleukin 17A gene DOID:13141 uveitis ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Behcet Syndrome;protein:increased expression:serum (human) PMID:23101722|REF_RGD_ID:9068441 9061206 Il17a interleukin 17A gene DOID:13241 Behcet's disease ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21455110|REF_RGD_ID:8698672 9061206 Il17a interleukin 17A gene DOID:13375 temporal arteritis severity ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:temporal artery (human) PMID:22993227|REF_RGD_ID:8698666 9061206 Il17a interleukin 17A gene DOID:13375 temporal arteritis susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human) PMID:24919468|REF_RGD_ID:9068454 9061206 Il17a interleukin 17A gene DOID:1485 cystic fibrosis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:21109552|REF_RGD_ID:4889130 9061206 Il17a interleukin 17A gene DOID:1485 cystic fibrosis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19342416|REF_RGD_ID:4889105 9061206 Il17a interleukin 17A gene DOID:1731 histoplasmosis ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung (mouse) PMID:19469707|REF_RGD_ID:9068939 9061206 Il17a interleukin 17A gene DOID:1936 atherosclerosis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:21300351|REF_RGD_ID:9170237 9061206 Il17a interleukin 17A gene DOID:2123 tularemia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20585449|REF_RGD_ID:4888521 9061206 Il17a interleukin 17A gene DOID:2316 brain ischemia ISO RGD:2888 D RGD:9068941 20200609 RGD protein, mRNA:increased expression:brain PMID:16305645|REF_RGD_ID:4846398 9061206 Il17a interleukin 17A gene DOID:2316 brain ischemia ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15829914 9061206 Il17a interleukin 17A gene DOID:2316 brain ischemia ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:16305645|REF_RGD_ID:4846398 9061206 Il17a interleukin 17A gene DOID:2377 multiple sclerosis ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23517930 9061206 Il17a interleukin 17A gene DOID:2377 multiple sclerosis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:plasma (human) PMID:21455110|REF_RGD_ID:8698672 9061206 Il17a interleukin 17A gene DOID:2755 Mycobacterium avium complex disease ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:20797909|REF_RGD_ID:4888520 9061206 Il17a interleukin 17A gene DOID:2799 bronchiolitis obliterans ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA:increased expression:trachea PMID:20393404|REF_RGD_ID:4143277 9061206 Il17a interleukin 17A gene DOID:2841 asthma ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20351038|REF_RGD_ID:4888527 9061206 Il17a interleukin 17A gene DOID:2841 asthma ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum PMID:18060619|REF_RGD_ID:4839043 9061206 Il17a interleukin 17A gene DOID:2841 asthma ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:alveolar macrophage PMID:18941201|REF_RGD_ID:4889152 9061206 Il17a interleukin 17A gene DOID:2841 asthma ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:15730730|REF_RGD_ID:4889114 9061206 Il17a interleukin 17A gene DOID:2841 asthma susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2275913 (human) PMID:20437253|REF_RGD_ID:4889139 9061206 Il17a interleukin 17A gene DOID:2942 bronchiolitis susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:SNP:promoter:rs2275913 (human) PMID:20437253|REF_RGD_ID:4889139 9061206 Il17a interleukin 17A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:lung, bronchioalveolar lavage fluid (rat) PMID:16200865|REF_RGD_ID:9068943 9061206 Il17a interleukin 17A gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:respiratory mucosa PMID:19604272|REF_RGD_ID:4889104 9061206 Il17a interleukin 17A gene DOID:331 central nervous system disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19940258 9061206 Il17a interleukin 17A gene DOID:3310 atopic dermatitis ISO RGD:10787 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (mouse) PMID:22848348|REF_RGD_ID:9068417 9061206 Il17a interleukin 17A gene DOID:3310 atopic dermatitis severity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:dermis, lymphocyte (human) PMID:18432274|REF_RGD_ID:9068436 9061206 Il17a interleukin 17A gene DOID:3310 atopic dermatitis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24337738|REF_RGD_ID:8698670 9061206 Il17a interleukin 17A gene DOID:3388 periodontal disease ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:gingiva (rat) PMID:21826658|REF_RGD_ID:9068940 9061206 Il17a interleukin 17A gene DOID:3482 plague ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lymph node PMID:20876291|REF_RGD_ID:4781452 9061206 Il17a interleukin 17A gene DOID:3770 pulmonary fibrosis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:18338242|PMID:20176803|REF_RGD_ID:4888529|REF_RGD_ID:4889110 9061206 Il17a interleukin 17A gene DOID:3770 pulmonary fibrosis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:lung, bronchioalveolar lavage fluid (rat) PMID:24721403|REF_RGD_ID:9179762 9061206 Il17a interleukin 17A gene DOID:3770 pulmonary fibrosis ISO RGD:735883 D RGD:9068941 20200609 RGD Idiopathic Pulmonary Fibrosis PMID:20176803|REF_RGD_ID:4888529 9061206 Il17a interleukin 17A gene DOID:417 autoimmune disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21227906 9061206 Il17a interleukin 17A gene DOID:418 systemic scleroderma ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:22833167|REF_RGD_ID:8696037 9061206 Il17a interleukin 17A gene DOID:418 systemic scleroderma ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:epidermis, endodermis, mast cell (human) PMID:23335253|REF_RGD_ID:8696038 9061206 Il17a interleukin 17A gene DOID:4448 macular degeneration ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression: serum (human) PMID:21762495|REF_RGD_ID:9068453 9061206 Il17a interleukin 17A gene DOID:4448 macular degeneration susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:snps:promoter, 3' utr:c.-197G>A, c.*1249C>T (rs2275913, rs3748067) (human) PMID:25028103|REF_RGD_ID:9068445 9061206 Il17a interleukin 17A gene DOID:4481 allergic rhinitis ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:21535180|REF_RGD_ID:5147409 9061206 Il17a interleukin 17A gene DOID:4481 allergic rhinitis susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:snp:promoter:c.-444A>G (human) PMID:22507625|REF_RGD_ID:9068429 9061206 Il17a interleukin 17A gene DOID:4483 rhinitis ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:19927541|REF_RGD_ID:4889144 9061206 Il17a interleukin 17A gene DOID:4483 rhinitis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa PMID:20506642|REF_RGD_ID:4889137 9061206 Il17a interleukin 17A gene DOID:4780 anti-basement membrane glomerulonephritis treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23826305|REF_RGD_ID:7365004 9061206 Il17a interleukin 17A gene DOID:552 pneumonia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20498020|PMID:22848348|REF_RGD_ID:4888524|REF_RGD_ID:9068417 9061206 Il17a interleukin 17A gene DOID:552 pneumonia ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 9061206 Il17a interleukin 17A gene DOID:5844 myocardial infarction ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:heart left ventricle (rat) PMID:23096364|REF_RGD_ID:9095344 9061206 Il17a interleukin 17A gene DOID:6000 congestive heart failure ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:19527710|REF_RGD_ID:4831836 9061206 Il17a interleukin 17A gene DOID:6000 congestive heart failure ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:19909738|REF_RGD_ID:2325816 9061206 Il17a interleukin 17A gene DOID:630 genetic disease ISO RGD:735883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061206 Il17a interleukin 17A gene DOID:6543 acne ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:pilosebaceous unit, dermis (human) PMID:23924903|REF_RGD_ID:8698671 9061206 Il17a interleukin 17A gene DOID:6713 cerebrovascular disease ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29114965 9061206 Il17a interleukin 17A gene DOID:7147 ankylosing spondylitis treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:24035250|REF_RGD_ID:9068448 9061206 Il17a interleukin 17A gene DOID:7148 rheumatoid arthritis ISO RGD:735883 D RGD:9068941 20221117 RGD mRNA:increased expression:synovial (human) PMID:22660635|REF_RGD_ID:155663483 9061206 Il17a interleukin 17A gene DOID:7148 rheumatoid arthritis treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:20926833|REF_RGD_ID:9068415 9061206 Il17a interleukin 17A gene DOID:7188 autoimmune thyroiditis ISO RGD:10787 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland PMID:17046971|REF_RGD_ID:4841878 9061206 Il17a interleukin 17A gene DOID:820 myocarditis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:18441464|REF_RGD_ID:4838736 9061206 Il17a interleukin 17A gene DOID:823 periapical periodontitis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:Periapical Tissue PMID:19166776|REF_RGD_ID:4832829 9061206 Il17a interleukin 17A gene DOID:841 extrinsic allergic alveolitis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:19151189|REF_RGD_ID:4889106 9061206 Il17a interleukin 17A gene DOID:841 extrinsic allergic alveolitis ISO RGD:10787 D RGD:9068941 20200609 RGD associated with Silicosis PMID:20421647|REF_RGD_ID:4888525 9061206 Il17a interleukin 17A gene DOID:874 bacterial pneumonia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:18802100|REF_RGD_ID:4889153 9061206 Il17a interleukin 17A gene DOID:874 bacterial pneumonia severity ISO RGD:10787 D RGD:9068941 20200820 RGD PMID:25398094|REF_RGD_ID:38501102 9061206 Il17a interleukin 17A gene DOID:8893 psoriasis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:21172868|REF_RGD_ID:9068413 9061206 Il17a interleukin 17A gene DOID:8893 psoriasis ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA:protein:increased expression:epidermis (human) PMID:23359500|REF_RGD_ID:8698663 9061206 Il17a interleukin 17A gene DOID:8893 psoriasis ISO RGD:735883 D RGD:9068941 20200609 RGD mRNA:protein:increased expression:epidermis (human) PMID:23359500|REF_RGD_ID:8698663 9061206 Il17a interleukin 17A gene DOID:8893 psoriasis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24286371|REF_RGD_ID:8698656 9061206 Il17a interleukin 17A gene DOID:8893 psoriasis treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:20926833|REF_RGD_ID:9068415 9061206 Il17a interleukin 17A gene DOID:9000380 Spondylarthritis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:21905004|REF_RGD_ID:9068946 9061206 Il17a interleukin 17A gene DOID:9000469 Viral Myocarditis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:23702425|REF_RGD_ID:9227415 9061206 Il17a interleukin 17A gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20413629|REF_RGD_ID:4888526 9061206 Il17a interleukin 17A gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:sputum PMID:12814161|REF_RGD_ID:4889115 9061206 Il17a interleukin 17A gene DOID:9000955 Acute Otitis Media disease_progression ISO RGD:2888 D RGD:9068941 20201118 RGD protein:increased expression:serum (rat) PMID:27497403|REF_RGD_ID:40818299 9061206 Il17a interleukin 17A gene DOID:9000989 Pneumococcal Infections susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) PMID:20437253|REF_RGD_ID:4889139 9061206 Il17a interleukin 17A gene DOID:9001472 Nasal Polyps ISO RGD:735883 D RGD:9068941 20200609 RGD associated with rhinitis; protein:increased expression:nasal mucosa PMID:21091665|REF_RGD_ID:4889132 9061206 Il17a interleukin 17A gene DOID:9001472 Nasal Polyps ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:nose, serum PMID:20506642|REF_RGD_ID:4889137 9061206 Il17a interleukin 17A gene DOID:9001488 Human Influenza ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:19265125|REF_RGD_ID:4889150 9061206 Il17a interleukin 17A gene DOID:9001488 Human Influenza ISO RGD:10787 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:19783685|REF_RGD_ID:4889102 9061206 Il17a interleukin 17A gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:10787 D RGD:9068941 20201023 RGD protein:increased expression:liver, serum (mouse) PMID:28465467|REF_RGD_ID:39939037 9061206 Il17a interleukin 17A gene DOID:9001573 Experimental Liver Cirrhosis treatment ISO RGD:2888 D RGD:9068941 20220331 RGD PMID:30346985|REF_RGD_ID:151665755 9061206 Il17a interleukin 17A gene DOID:9002106 Pneumococcal Pneumonia ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:19995896|REF_RGD_ID:4888531 9061206 Il17a interleukin 17A gene DOID:9002211 Hyperalgesia ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23192794|REF_RGD_ID:9068942 9061206 Il17a interleukin 17A gene DOID:9002211 Hyperalgesia treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23246025|REF_RGD_ID:9222699 9061206 Il17a interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20925596|REF_RGD_ID:4781444 9061206 Il17a interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:20925596|REF_RGD_ID:4781444 9061206 Il17a interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:23377547|REF_RGD_ID:9130803 9061206 Il17a interleukin 17A gene DOID:9002457 Experimental Arthritis ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20974942 9061206 Il17a interleukin 17A gene DOID:9002457 Experimental Arthritis treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:21194185|REF_RGD_ID:9068936 9061206 Il17a interleukin 17A gene DOID:9002605 Delayed Hypersensitivity ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:19373578|REF_RGD_ID:4888523 9061206 Il17a interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:16785554|REF_RGD_ID:4889113 9061206 Il17a interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:20003332|REF_RGD_ID:4888522 9061206 Il17a interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lymph node PMID:19233473|REF_RGD_ID:4831840 9061206 Il17a interleukin 17A gene DOID:9002763 Experimental Autoimmune Encephalomyelitis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:16200068|REF_RGD_ID:9212317 9061206 Il17a interleukin 17A gene DOID:9002884 Emphysema ISO RGD:735883 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:27380433 9061206 Il17a interleukin 17A gene DOID:9003157 Respiratory Sounds ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression: : PMID:20199725|REF_RGD_ID:4889143 9061206 Il17a interleukin 17A gene DOID:9003646 Arterial Thrombosis ISO RGD:10787 D RGD:9068941 20200609 RGD mouse protein in a rat model PMID:24940514|REF_RGD_ID:9068933 9061206 Il17a interleukin 17A gene DOID:9003657 Perennial Allergic Rhinitis severity ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:serum PMID:19226302|REF_RGD_ID:4889151 9061206 Il17a interleukin 17A gene DOID:9004283 Transplant Rejection ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:20651239|REF_RGD_ID:9068426 9061206 Il17a interleukin 17A gene DOID:9004283 Transplant Rejection ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:liver, serum (rat) PMID:21043049|REF_RGD_ID:4781440 9061206 Il17a interleukin 17A gene DOID:9004283 Transplant Rejection treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23429965|REF_RGD_ID:9068938 9061206 Il17a interleukin 17A gene DOID:9004484 Sepsis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:15776385|REF_RGD_ID:4888507 9061206 Il17a interleukin 17A gene DOID:9004610 Acute Lung Injury ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28600744 9061206 Il17a interleukin 17A gene DOID:9004945 Ocular Toxoplasmosis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:aqueous humor (human) PMID:22927448|REF_RGD_ID:8698652 9061206 Il17a interleukin 17A gene DOID:9004945 Ocular Toxoplasmosis treatment ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:22927448|REF_RGD_ID:8698652 9061206 Il17a interleukin 17A gene DOID:9005036 Bacteremia ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Respiratory Distress Syndrome, Adult; protein:increased expression:serum PMID:21062445|REF_RGD_ID:5128683 9061206 Il17a interleukin 17A gene DOID:9005106 Animal Toxoplasmosis ISO RGD:10787 D RGD:9068941 20200820 RGD mRNA,protein:increased expression:placenta: PMID:21923716|REF_RGD_ID:38501105 9061206 Il17a interleukin 17A gene DOID:9005236 Drug Eruptions ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:31150805 9061206 Il17a interleukin 17A gene DOID:9005372 Inflammation ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22617429 9061206 Il17a interleukin 17A gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2888 D RGD:9068941 20200609 RGD protein:increased expression:gingiva (rat) PMID:21826658|REF_RGD_ID:9068940 9061206 Il17a interleukin 17A gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:24117055|REF_RGD_ID:9074484 9061206 Il17a interleukin 17A gene DOID:9005647 Experimental Autoimmune Uveitis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA:increased expression:lymph node (rat) PMID:21686325|REF_RGD_ID:9158567 9061206 Il17a interleukin 17A gene DOID:9005647 Experimental Autoimmune Uveitis treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:23626769|REF_RGD_ID:9173789 9061206 Il17a interleukin 17A gene DOID:9005749 Necrosis ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24949944 9061206 Il17a interleukin 17A gene DOID:9005941 Rhinosinusitis ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Asthma;mRNA, protein:increased expression:nasal polyps (human) PMID:19672092|REF_RGD_ID:4889146 9061206 Il17a interleukin 17A gene DOID:9005966 Staphylococcal Skin Infections ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24614654|REF_RGD_ID:9068425 9061206 Il17a interleukin 17A gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:10785455|REF_RGD_ID:4888513 9061206 Il17a interleukin 17A gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2888 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:sciatic nerve, inguinal lymph node PMID:19207263|REF_RGD_ID:4831923 9061206 Il17a interleukin 17A gene DOID:9006771 Chronic Rhinosinusitis ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:uncinate process, nasal mucosa (human) PMID:23613503|REF_RGD_ID:8696039 9061206 Il17a interleukin 17A gene DOID:9006779 Discoid Lupus Erythematosus ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (human) PMID:20493423|REF_RGD_ID:8698667 9061206 Il17a interleukin 17A gene DOID:9006844 Streptococcal Infections ISO RGD:10787 D RGD:9068941 20200609 RGD protein:increased expression:serum (mouse) PMID:22384827|REF_RGD_ID:8698662 9061206 Il17a interleukin 17A gene DOID:9006854 MPTP Poisoning ISO RGD:735883 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31351185 9061206 Il17a interleukin 17A gene DOID:9006928 Viral Bronchiolitis susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD DNA:SNP: :rs7747909(human) PMID:17703412|REF_RGD_ID:4889847 9061206 Il17a interleukin 17A gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:735883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19633216|PMID:24949944 9061206 Il17a interleukin 17A gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:2888 D RGD:9068941 20200609 RGD PMID:22030025|REF_RGD_ID:9068944 9061206 Il17a interleukin 17A gene DOID:9008 psoriatic arthritis severity ISO RGD:10787 D RGD:9068941 20200609 RGD PMID:24567524|REF_RGD_ID:8698658 9061206 Il17a interleukin 17A gene DOID:9008 psoriatic arthritis treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:23361084|REF_RGD_ID:9068444 9061206 Il17a interleukin 17A gene DOID:9008261 Chemically-Induced Disorders ISO RGD:735883 D RGD:9068941 20230907 CTD CTD Direct Evidence: marker/mechanism PMID:36108500 9061206 Il17a interleukin 17A gene DOID:9008464 Cryopyrin-Associated Periodic Syndromes treatment ISO RGD:735883 D RGD:9068941 20200609 RGD PMID:21637346|REF_RGD_ID:9068438 9061206 Il17a interleukin 17A gene DOID:9008727 Ige Responsiveness, Atopic ISO RGD:735883 D RGD:9068941 20200609 RGD associated with Nasal Polyps;protein:increased expression:nasal polyps (human) PMID:24141678|REF_RGD_ID:9068428 9061206 Il17a interleukin 17A gene DOID:9008939 Breast Neoplasms treatment ISO RGD:10787 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:24674692|REF_RGD_ID:9068440 9061206 Il17a interleukin 17A gene DOID:9008945 Gram-Negative Bacterial Infections susceptibility ISO RGD:735883 D RGD:9068941 20200609 RGD Moraxellaceae Infections; associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) PMID:20437253|REF_RGD_ID:4889139 9061206 Il17a interleukin 17A gene DOID:9074 systemic lupus erythematosus ISO RGD:735883 D RGD:9068941 20200609 RGD protein:increased expression:epidermis (human) PMID:20493423|REF_RGD_ID:8698667 9061206 Il17a interleukin 17A gene DOID:9074 systemic lupus erythematosus ISO RGD:735883 D RGD:9068941 20221117 RGD mRNA:increased expression:kidney (human) PMID:22660635|REF_RGD_ID:155663483 9061206 Il17a interleukin 17A gene DOID:9111 cutaneous leishmaniasis ISO RGD:735883 D RGD:9068941 20200806 RGD mRNA:increased expression:Peripheral blood mononuclear cell: PMID:29205403|REF_RGD_ID:38455981 9061206 Il17a interleukin 17A gene DOID:9408 acute myocardial infarction ameliorates ISO RGD:2888 D RGD:9068941 20230420 RGD PMID:32068187|REF_RGD_ID:267358468 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:0050117 disease by infectious agent ISO RGD:1353417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Recurrent infections PMID:17080092|PMID:21119115|PMID:25666262|PMID:25741868|PMID:27747465|PMID:28492532|PMID:28936583 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11796754 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:0060704 lymphoproliferative syndrome ISO RGD:1353417 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder PMID:25741868|PMID:28492532 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:0060705 X-linked lymphoproliferative syndrome 1 ISO RGD:1353417 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1, X-linked PMID:25741868|PMID:28492532 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1353417 D RGD:7240710 20180130 OMIM 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:0060706 X-linked lymphoproliferative syndrome 2 ISO RGD:1353417 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2, X-linked PMID:1543760|PMID:16199547|PMID:17080092|PMID:17576681|PMID:17989220|PMID:18068526|PMID:20015872|PMID:20517649|PMID:21119115|PMID:21173700|PMID:21281876|PMID:21543760|PMID:21674762|PMID:22228567|PMID:23131490|PMID:23818254|PMID:23944711|PMID:23973892|PMID:24033266|PMID:24084330|PMID:24616127|PMID:25640679|PMID:25666262|PMID:25741868|PMID:25801017|PMID:25943627|PMID:26581487|PMID:27317434|PMID:27537055|PMID:27747465|PMID:27815752|PMID:28492532|PMID:28936583|PMID:29312354|PMID:29501442|PMID:29665027|PMID:30755392|PMID:31754776|PMID:32542393|PMID:9536098 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1353417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:25741868 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1353417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:10283 prostate cancer ISO RGD:1353417 D RGD:9068941 20200609 RGD PMID:19415464|REF_RGD_ID:2315849 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:10283 prostate cancer disease_progression ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:prostate gland PMID:17947468|REF_RGD_ID:2315852 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:12849 autistic disorder ISO RGD:1353417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:1612 breast cancer ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:19563669|REF_RGD_ID:2315848 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:2935 Chediak-Higashi syndrome ISO RGD:1353417 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:20517649|PMID:21119115|PMID:23944711|PMID:24033266|PMID:24616127|PMID:25741868|PMID:27537055|PMID:28492532 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:3007 breast ductal carcinoma severity ISO RGD:1353417 D RGD:9068941 20200609 RGD PMID:17350670|REF_RGD_ID:2315853 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:3459 breast carcinoma exacerbates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:breast (human) PMID:31964418|REF_RGD_ID:153344516 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:3717 gastric adenocarcinoma disease_progression ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:stomach (human) PMID:31964418|REF_RGD_ID:153344516 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:3948 adrenocortical carcinoma ameliorates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:adrenal gland (human) PMID:31964418|REF_RGD_ID:153344516 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:4450 renal cell carcinoma disease_progression ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:kidney PMID:17332931|REF_RGD_ID:2315854 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:4465 papillary renal cell carcinoma exacerbates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:4467 clear cell renal cell carcinoma ameliorates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:kidney (human) PMID:31964418|REF_RGD_ID:153344516 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:630 genetic disease ISO RGD:1353417 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:7474 malignant pleural mesothelioma ameliorates ISO RGD:1353417 D RGD:9068941 20220825 RGD mRNA:increased expression:pleura, lung (human) PMID:17253596|REF_RGD_ID:153344528 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:8991 cervix uteri carcinoma in situ ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18325467|REF_RGD_ID:2315850 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:9000117 Esophageal Neoplasms ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17611394 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:9002304 Prostatic Neoplasms severity ISO RGD:731857 D RGD:9068941 20200609 RGD PMID:18259199|REF_RGD_ID:2315851 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21442130 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:9002762 Ovarian Neoplasms ISO RGD:1353417 D RGD:9068941 20200609 RGD PMID:19758744|REF_RGD_ID:2315847 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:9003373 Uterine Cervical Neoplasms severity ISO RGD:1353417 D RGD:9068941 20200609 RGD protein:increased expression:uterine cervix PMID:18325467|REF_RGD_ID:2315850 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:9003566 Mesothelioma ameliorates ISO RGD:1353417 D RGD:9068941 20220818 RGD mRNA:increased expression:mesothelium (human) PMID:31964418|REF_RGD_ID:153344516 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:9003937 X Chromosome, Trisomy Xq25 ISO RGD:1353417 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Xq25 duplication syndrome 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:9004484 Sepsis ISO RGD:1353417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sepsis PMID:17080092|PMID:21119115|PMID:25666262|PMID:25741868|PMID:27747465|PMID:28492532|PMID:28936583 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12766084 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:1353417 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14998631 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:620692 D RGD:9068941 20231221 RGD PMID:20501665|REF_RGD_ID:10003160 9061217 Xiap X-linked inhibitor of apoptosis gene DOID:9256 colorectal cancer ISO RGD:1353417 D RGD:9068941 20220825 RGD mRNA, protein:increased expression:colonic mucosa (human) PMID:27827395|REF_RGD_ID:153344527 9061228 Rpgrip1l RPGRIP1 like gene DOID:0050753 cerebellar ataxia ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Joubert Syndrome 7;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 9061228 Rpgrip1l RPGRIP1 like gene DOID:0050777 Joubert syndrome ISO RGD:1603695 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:16199547|PMID:17558407|PMID:17558409|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:20301500|PMID:21068128|PMID:21866095|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:31390572|PMID:31964843|PMID:31980526|PMID:35858853 9061228 Rpgrip1l RPGRIP1 like gene DOID:0050778 Meckel syndrome ISO RGD:1603695 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17558407|PMID:17558409|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:20301500|PMID:21068128|PMID:21866095|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:31390572 9061228 Rpgrip1l RPGRIP1 like gene DOID:0060668 anencephaly ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 9061228 Rpgrip1l RPGRIP1 like gene DOID:0070115 Meckel syndrome 1 ISO RGD:1603695 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome PMID:17558407|PMID:17558409|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:20301500|PMID:21068128|PMID:21866095|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:31390572 9061228 Rpgrip1l RPGRIP1 like gene DOID:0070119 Meckel syndrome 5 ISO RGD:1603695 D RGD:7240710 20180130 OMIM 9061228 Rpgrip1l RPGRIP1 like gene DOID:0070119 Meckel syndrome 5 ISO RGD:1603695 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 5 PMID:17558407|PMID:17558409|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:20301500|PMID:21068128|PMID:21866095|PMID:23351400|PMID:24033266|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:29343940|PMID:31328266|PMID:31390572|PMID:33323469|PMID:35233738|PMID:35858853 9061228 Rpgrip1l RPGRIP1 like gene DOID:0110414 retinitis pigmentosa 3 severity ISO RGD:1603695 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.R744Q (rs2302677)(human) PMID:22183348|REF_RGD_ID:11352374 9061228 Rpgrip1l RPGRIP1 like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21866095|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28492532|PMID:29343940|PMID:29620724|PMID:29991045|PMID:9536098 9061228 Rpgrip1l RPGRIP1 like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31390572|PMID:31980526|PMID:9536098 9061228 Rpgrip1l RPGRIP1 like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31390572|PMID:31964843|PMID:31980526|PMID:35858853|PMID:9536098 9061228 Rpgrip1l RPGRIP1 like gene DOID:0110980 Joubert syndrome 1 ISO RGD:1603695 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21866095|PMID:22331178|PMID:22406018|PMID:22693042|PMID:23188109|PMID:23351400|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:27434533|PMID:27717089|PMID:28378410|PMID:28492532|PMID:28771248|PMID:29343940|PMID:29620724|PMID:31390572|PMID:31964843|PMID:31980526|PMID:33323469|PMID:34308837|PMID:35858853|PMID:36061204|PMID:9536098 9061228 Rpgrip1l RPGRIP1 like gene DOID:0111002 Joubert syndrome 7 ISO RGD:1603695 D RGD:7240710 20180130 OMIM 9061228 Rpgrip1l RPGRIP1 like gene DOID:0111002 Joubert syndrome 7 ISO RGD:1603695 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:16199547|PMID:17558407|PMID:17558409|PMID:17576681|PMID:17960139|PMID:18414213|PMID:18565097|PMID:19430481|PMID:19574260|PMID:20301500|PMID:21866095|PMID:23351400|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:29343940|PMID:31328266|PMID:31390572|PMID:33323469|PMID:35233738|PMID:35858853|PMID:9536098 9061228 Rpgrip1l RPGRIP1 like gene DOID:0111112 nephronophthisis 1 ISO RGD:1603695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532 9061228 Rpgrip1l RPGRIP1 like gene DOID:0111128 focal segmental glomerulosclerosis 1 ISO RGD:1603695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532 9061228 Rpgrip1l RPGRIP1 like gene DOID:1059 intellectual disability ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Joubert Syndrome 7;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 9061228 Rpgrip1l RPGRIP1 like gene DOID:10907 microcephaly ISO RGD:1603695 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9061228 Rpgrip1l RPGRIP1 like gene DOID:12712 nephronophthisis ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:18414213|PMID:19430481|PMID:20301500|PMID:25741868|PMID:27434533|PMID:28492532|PMID:28771248|PMID:29343940|PMID:31390572 9061228 Rpgrip1l RPGRIP1 like gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1603695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Glomerulosclerosis, focal PMID:19430481|PMID:20301500|PMID:25741868|PMID:28492532 9061228 Rpgrip1l RPGRIP1 like gene DOID:14791 Leber congenital amaurosis ISO RGD:1603695 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868 9061228 Rpgrip1l RPGRIP1 like gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1603695 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 9061228 Rpgrip1l RPGRIP1 like gene DOID:2786 cerebellar disease ISO RGD:1603695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 9061228 Rpgrip1l RPGRIP1 like gene DOID:2975 cystic kidney disease ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 9061228 Rpgrip1l RPGRIP1 like gene DOID:557 kidney disease ISO RGD:1603695 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:18414213|PMID:25741868|PMID:28492532 9061228 Rpgrip1l RPGRIP1 like gene DOID:5614 eye disease ISO RGD:1603695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 9061228 Rpgrip1l RPGRIP1 like gene DOID:630 genetic disease ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17558409|PMID:18414213|PMID:25741868|PMID:26092869|PMID:28378410|PMID:28492532 9061228 Rpgrip1l RPGRIP1 like gene DOID:8466 retinal degeneration ISO RGD:1603695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19430481 9061228 Rpgrip1l RPGRIP1 like gene DOID:8501 fundus dystrophy ISO RGD:1603695 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 9061228 Rpgrip1l RPGRIP1 like gene DOID:8725 vascular dementia susceptibility ISO RGD:1603695 D RGD:9068941 20200609 RGD DNA:SNPs:introns:rs16952362,rs17214955,rs17803830(human) PMID:22425971|REF_RGD_ID:13204815 9061228 Rpgrip1l RPGRIP1 like gene DOID:9000639 COACH Syndrome 1 ISO RGD:1603695 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:17558407|PMID:17558409|PMID:19430481|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:31390572 9061228 Rpgrip1l RPGRIP1 like gene DOID:9000983 Encephalocele ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 9061228 Rpgrip1l RPGRIP1 like gene DOID:9001591 Ciliary Motility Disorders ISO RGD:1603695 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17558407|PMID:17558409 9061228 Rpgrip1l RPGRIP1 like gene DOID:9003081 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death ISO RGD:1603695 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death PMID:28492532 9061228 Rpgrip1l RPGRIP1 like gene DOID:9003488 Postaxial Polydactyly, Type A1 ISO RGD:1603695 D RGD:9068941 20200609 RGD associated with Meckel Syndrome, Type 5;DNA:mutations:exons: PMID:17558409|REF_RGD_ID:11073359 9061228 Rpgrip1l RPGRIP1 like gene DOID:9007694 COACH Syndrome 3 ISO RGD:1603695 D RGD:7240710 20201223 OMIM 9061228 Rpgrip1l RPGRIP1 like gene DOID:9007694 COACH Syndrome 3 ISO RGD:1603695 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: COACH syndrome 3 PMID:17558407|PMID:17558409|PMID:17960139|PMID:18565097|PMID:19430481|PMID:19574260|PMID:21866095|PMID:25741868|PMID:26092869|PMID:27434533|PMID:28492532|PMID:28771248|PMID:31390572 9061273 Tmem241 transmembrane protein 241 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1351617 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 9061273 Tmem241 transmembrane protein 241 gene DOID:1059 intellectual disability ISO RGD:1351617 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9061273 Tmem241 transmembrane protein 241 gene DOID:630 genetic disease ISO RGD:1351617 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061320 Rundc1 RUN domain containing 1 gene DOID:10283 prostate cancer ISO RGD:1316714 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate 9061320 Rundc1 RUN domain containing 1 gene DOID:630 genetic disease ISO RGD:1316714 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061361 Fhod1 formin homology 2 domain containing 1 gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:1315466 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9061361 Fhod1 formin homology 2 domain containing 1 gene DOID:630 genetic disease ISO RGD:1315466 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061393 Zbtb33 zinc finger and BTB domain containing 33 gene DOID:0050437 Danon disease ISO RGD:1351169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Danon disease PMID:28492532 9061393 Zbtb33 zinc finger and BTB domain containing 33 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1351169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9061393 Zbtb33 zinc finger and BTB domain containing 33 gene DOID:0060821 syndromic X-linked intellectual disability 14 ISO RGD:1351169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 PMID:28492532 9061393 Zbtb33 zinc finger and BTB domain containing 33 gene DOID:0060822 syndromic X-linked intellectual disability Cabezas type ISO RGD:1351169 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type PMID:17236139|PMID:25385192|PMID:28492532 9061393 Zbtb33 zinc finger and BTB domain containing 33 gene DOID:12849 autistic disorder ISO RGD:1351169 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9061393 Zbtb33 zinc finger and BTB domain containing 33 gene DOID:630 genetic disease ISO RGD:1351169 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061402 P3h4 prolyl 3-hydroxylase family member 4 (inactive) gene DOID:630 genetic disease ISO RGD:732924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061414 Exoc3l2 exocyst complex component 3 like 2 gene DOID:0050778 Meckel syndrome ISO RGD:1605316 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome 9061414 Exoc3l2 exocyst complex component 3 like 2 gene DOID:630 genetic disease ISO RGD:1605316 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9061429 Cacng1 calcium voltage-gated channel auxiliary subunit gamma 1 gene DOID:630 genetic disease ISO RGD:732630 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061429 Cacng1 calcium voltage-gated channel auxiliary subunit gamma 1 gene DOID:8545 malignant hyperthermia ISO RGD:732630 D RGD:9068941 20200609 RGD PMID:8395940|REF_RGD_ID:734675 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:0060017 CD3epsilon deficiency ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome ISO RGD:1350722 D RGD:7240710 20180130 OMIM 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome PMID:10932188|PMID:11559849|PMID:11756979|PMID:12893758|PMID:16195396|PMID:16674562|PMID:17089422|PMID:18223281|PMID:19132250|PMID:19715471|PMID:23560673|PMID:24560896|PMID:25741868|PMID:28492532|PMID:3035184 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:0080400 orofacial cleft 7 ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Orofacial cleft 7 PMID:10932188|PMID:11559849 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:0080690 RASopathy ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:0111971 immunodeficiency 18 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:0111972 immunodeficiency 19 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:0111973 immunodeficiency 17 ISO RGD:1350722 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:2121 ectodermal dysplasia ISO RGD:1350722 D RGD:9068941 20200609 RGD cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X PMID:10932188|REF_RGD_ID:1599795 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:5419 schizophrenia ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:630 genetic disease ISO RGD:1350722 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:674 cleft palate ISO RGD:1350722 D RGD:9068941 20200609 RGD cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X PMID:10932188|REF_RGD_ID:1599795 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:8566 herpes simplex ISO RGD:1350722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10729168 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:9002834 Herpesviridae Infections ISO RGD:1350722 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10932188 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:9007661 Dwarfism ISO RGD:1350722 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9061438 Nectin1 nectin cell adhesion molecule 1 gene DOID:9296 cleft lip ISO RGD:1350722 D RGD:9068941 20200609 RGD cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X PMID:10932188|REF_RGD_ID:1599795 9061457 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0050429 Hailey-Hailey disease ISO RGD:733912 D RGD:7240710 20180130 OMIM 9061457 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0050429 Hailey-Hailey disease ISO RGD:733912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial benign pemphigus PMID:10615129|PMID:10767338|PMID:11874499|PMID:15545997|PMID:21883398|PMID:25741868|PMID:28492532|PMID:3978039 9061457 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:0111947 immunodeficiency 21 ISO RGD:733912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: GATA2 DEFICIENCY PMID:28492532 9061457 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:630 genetic disease ISO RGD:733912 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9061457 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:733912 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emberger syndrome PMID:22147895|PMID:25741868|PMID:28492532 9061457 Atp2c1 ATPase secretory pathway Ca2+ transporting 1 gene DOID:9270 alkaptonuria ISO RGD:733912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9061503 Akain1 A-kinase anchor inhibitor 1 gene DOID:0060406 chromosome 18p deletion syndrome ISO RGD:5131749 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Del(18p) syndrome PMID:31690835 9061503 Akain1 A-kinase anchor inhibitor 1 gene DOID:1059 intellectual disability ISO RGD:5131749 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9061503 Akain1 A-kinase anchor inhibitor 1 gene DOID:630 genetic disease ISO RGD:5131749 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061509 Wbp4 WW domain binding protein 4 gene DOID:630 genetic disease ISO RGD:1348548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061509 Wbp4 WW domain binding protein 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348548 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9061525 Adgrf2 adhesion G protein-coupled receptor F2 gene DOID:630 genetic disease ISO RGD:1343922 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061538 Pigp phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1316260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915 9061538 Pigp phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1316260 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:17237124|PMID:23512985|PMID:28492532 9061538 Pigp phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0070037 autosomal dominant intellectual developmental disorder 7 ISO RGD:1316260 D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome PMID:17237124|PMID:23512985|PMID:28492532 9061538 Pigp phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0080283 developmental and epileptic encephalopathy 55 ISO RGD:1316260 D RGD:7240710 20190315 OMIM 9061538 Pigp phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0080283 developmental and epileptic encephalopathy 55 ISO RGD:1316260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 55 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55 PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915 9061538 Pigp phosphatidylinositol glycan anchor biosynthesis class P gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1316260 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915 9061538 Pigp phosphatidylinositol glycan anchor biosynthesis class P gene DOID:1826 epilepsy ISO RGD:1316260 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9061538 Pigp phosphatidylinositol glycan anchor biosynthesis class P gene DOID:630 genetic disease ISO RGD:1316260 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9061538 Pigp phosphatidylinositol glycan anchor biosynthesis class P gene DOID:9002304 Prostatic Neoplasms ISO RGD:1316260 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24763052 9061546 Mxra5 matrix remodeling associated 5 gene DOID:10283 prostate cancer ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9061546 Mxra5 matrix remodeling associated 5 gene DOID:1184 nephrotic syndrome ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:29127259 9061546 Mxra5 matrix remodeling associated 5 gene DOID:12849 autistic disorder ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9061546 Mxra5 matrix remodeling associated 5 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1344277 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22696596 9061546 Mxra5 matrix remodeling associated 5 gene DOID:630 genetic disease ISO RGD:1344277 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9061546 Mxra5 matrix remodeling associated 5 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9061546 Mxra5 matrix remodeling associated 5 gene DOID:9007661 Dwarfism ISO RGD:1344277 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 9061556 Rbp3 retinol binding protein 3 gene DOID:0050572 cone-rod dystrophy ISO RGD:735986 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 9061556 Rbp3 retinol binding protein 3 gene DOID:0110393 retinitis pigmentosa 66 ISO RGD:735986 D RGD:7240710 20180130 OMIM 9061556 Rbp3 retinol binding protein 3 gene DOID:0110393 retinitis pigmentosa 66 ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 66 PMID:19074801|PMID:21067480|PMID:23105016|PMID:23486466|PMID:24963161|PMID:25741868|PMID:25766589|PMID:27829784|PMID:28492532|PMID:9614228 9061556 Rbp3 retinol binding protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:19074801|PMID:21067480|PMID:23105016|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532|PMID:28512305 9061556 Rbp3 retinol binding protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:735986 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:21067480|PMID:23105016|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532 9061556 Rbp3 retinol binding protein 3 gene DOID:10584 retinitis pigmentosa ISO RGD:735986 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:21067480|PMID:23105016|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532|PMID:28512305|PMID:33629268 9061556 Rbp3 retinol binding protein 3 gene DOID:13141 uveitis ISO RGD:735986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21850155 9061556 Rbp3 retinol binding protein 3 gene DOID:417 autoimmune disease ISO RGD:735986 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20007828|PMID:21850155 9061556 Rbp3 retinol binding protein 3 gene DOID:5419 schizophrenia ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9061556 Rbp3 retinol binding protein 3 gene DOID:630 genetic disease ISO RGD:735986 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9061556 Rbp3 retinol binding protein 3 gene DOID:8501 fundus dystrophy ISO RGD:735986 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23105016|PMID:25766589|PMID:26872967|PMID:28492532|PMID:9614228 9061563 LOC102014998 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:0050700 cardiomyopathy ISO RGD:1350936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:31883641 9061563 LOC102014998 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:14701 propionic acidemia ISO RGD:1350936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:31883641 9061563 LOC102014998 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:3650 lactic acidosis ISO RGD:1350936 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lactic acidosis PMID:31883641 9061563 LOC102014998 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:630 genetic disease ISO RGD:1350936 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061563 LOC102014998 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:700 mitochondrial metabolism disease ISO RGD:1557988 D RGD:9068941 20220825 MouseDO 9061563 LOC102014998 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:9000693 Mitochondrial Complex III Deficiency Nuclear Type 10 ISO RGD:1350936 D RGD:7240710 20200226 OMIM 9061563 LOC102014998 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:9000693 Mitochondrial Complex III Deficiency Nuclear Type 10 ISO RGD:1350936 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 PMID:25741868|PMID:31883641 9061563 LOC102014998 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:9007090 Experimental Seizures ISO RGD:628838 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:15730530|REF_RGD_ID:2303356 9061563 LOC102014998 cytochrome b-c1 complex subunit Rieske, mitochondrial gene DOID:9007102 Myocardial Ischemia ISO RGD:1350936 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16214533 9061569 Kif9 kinesin family member 9 gene DOID:630 genetic disease ISO RGD:1313687 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061569 Kif9 kinesin family member 9 gene DOID:9002795 Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy ISO RGD:1313687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy PMID:28492532 9061569 Kif9 kinesin family member 9 gene DOID:9008051 Luscan-Lumish Syndrome ISO RGD:1313687 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Luscan-Lumish syndrome PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:0050466 Loeys-Dietz syndrome ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome ISO RGD:1322095 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:24033266|PMID:25333361|PMID:25741868|PMID:28492532|PMID:28602422 9061611 Mylk myosin light chain kinase gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1322095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:0080072 intestinal pseudo-obstruction ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:28602422 9061611 Mylk myosin light chain kinase gene DOID:0080682 autosomal dominant familial visceral neuropathy ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:28602422 9061611 Mylk myosin light chain kinase gene DOID:0080685 aortic dissection ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic dissection PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 9061611 Mylk myosin light chain kinase gene DOID:10283 prostate cancer ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9061611 Mylk myosin light chain kinase gene DOID:11394 adult respiratory distress syndrome ISO RGD:1322095 D RGD:9068941 20211126 RGD DNA:missense mutations, silent mutation:CDS:p.H21P, p.P147S, p.T335T (human) PMID:18828194|REF_RGD_ID:4891491 9061611 Mylk myosin light chain kinase gene DOID:1205 allergic disease ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15621374 9061611 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25944730|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28492532|PMID:28512736|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29907982|PMID:29961567|PMID:33895855|PMID:9536098 9061611 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29907982|PMID:29961567|PMID:30056620|PMID:31296287|PMID:33895855|PMID:9536098 9061611 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27854218|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:31296287|PMID:33895855|PMID:9536098 9061611 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:9536098 9061611 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:34422331|PMID:9536098 9061611 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30739908|PMID:30755392|PMID:31296287|PMID:33895855|PMID:34422331|PMID:9536098 9061611 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:32848021|PMID:33895855|PMID:34422331|PMID:36973604|PMID:9536098 9061611 Mylk myosin light chain kinase gene DOID:14004 thoracic aortic aneurysm ISO RGD:1322095 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:32848021|PMID:33895855|PMID:34422331|PMID:34498425|PMID:36973604|PMID:37921548|PMID:9536098 9061611 Mylk myosin light chain kinase gene DOID:14323 Marfan syndrome ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:1686 glaucoma ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20375339 9061611 Mylk myosin light chain kinase gene DOID:178 vascular disease ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18511912 9061611 Mylk myosin light chain kinase gene DOID:1882 atrial heart septal defect ISO RGD:1322095 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:21055718|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29543232|PMID:29544503|PMID:29961567 9061611 Mylk myosin light chain kinase gene DOID:2841 asthma ISO RGD:1322095 D RGD:9068941 20200609 RGD PMID:17472811|REF_RGD_ID:4891492 9061611 Mylk myosin light chain kinase gene DOID:3070 high grade glioma ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10232591 9061611 Mylk myosin light chain kinase gene DOID:3393 coronary artery disease susceptibility ISO RGD:1322095 D RGD:9068941 20230729 RGD associated with nicotine dependence; DNA:SNP: (rs16834817) PMID:19706030|REF_RGD_ID:329970276 9061611 Mylk myosin light chain kinase gene DOID:3627 aortic aneurysm ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial aortic aneurysms PMID:26017485|PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:4724 brain edema ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19943851 9061611 Mylk myosin light chain kinase gene DOID:552 pneumonia ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15863634 9061611 Mylk myosin light chain kinase gene DOID:630 genetic disease ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:65 connective tissue disease ISO RGD:1322095 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:21055718|PMID:24033266|PMID:25741868|PMID:26854089|PMID:27879251|PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:77 gastrointestinal system disease ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15621374 9061611 Mylk myosin light chain kinase gene DOID:807 carotid artery occlusion ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carotid artery occlusion PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 9061611 Mylk myosin light chain kinase gene DOID:9000654 Aortic Aneurysm, Familial Abdominal 1 ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial abdominal, 1 PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:1322095 D RGD:9068941 20200609 RGD PMID:20035030|REF_RGD_ID:4891489 9061611 Mylk myosin light chain kinase gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:1616651 D RGD:9068941 20200609 RGD PMID:20035030|REF_RGD_ID:4891489 9061611 Mylk myosin light chain kinase gene DOID:9000719 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 ISO RGD:1322095 D RGD:7240710 20210602 OMIM 9061611 Mylk myosin light chain kinase gene DOID:9000719 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 ISO RGD:1322095 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25637381|PMID:25741868|PMID:26017485|PMID:27146836|PMID:27153395|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28602422|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30675029|PMID:30755392|PMID:33895855|PMID:34422331|PMID:9536098 9061611 Mylk myosin light chain kinase gene DOID:9000808 Hypercholesterolemia ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21052790 9061611 Mylk myosin light chain kinase gene DOID:9000965 Neoplasm Metastasis ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12970723|PMID:18710790 9061611 Mylk myosin light chain kinase gene DOID:9001516 Familial Thoracic Aortic Aneurysm 6 ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:9004097 Marfanoid Hypermobility Syndrome ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:9004484 Sepsis ISO RGD:1322095 D RGD:9068941 20200609 RGD PMID:16399953|REF_RGD_ID:1581052 9061611 Mylk myosin light chain kinase gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10232591|PMID:12970723 9061611 Mylk myosin light chain kinase gene DOID:9004610 Acute Lung Injury ISO RGD:1322095 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19374788 9061611 Mylk myosin light chain kinase gene DOID:9004610 Acute Lung Injury ISO RGD:1322095 D RGD:9068941 20200609 RGD associated with Sepsis PMID:16399953|REF_RGD_ID:1581052 9061611 Mylk myosin light chain kinase gene DOID:9005890 Disproportionate Tall Stature ISO RGD:1322095 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Disproportionate tall stature PMID:25741868|PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1322095 D RGD:7240710 20180130 OMIM 9061611 Mylk myosin light chain kinase gene DOID:9006750 Familial Thoracic Aortic Aneurysm 7 ISO RGD:1322095 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:11029314|PMID:11096123|PMID:16199547|PMID:16399953|PMID:17576681|PMID:21055718|PMID:21520333|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28401540|PMID:28492532|PMID:28512736|PMID:28602422|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29925964|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:31589614|PMID:32848021|PMID:33895855|PMID:34422331|PMID:34498425|PMID:36517271|PMID:36973604|PMID:9536098 9061611 Mylk myosin light chain kinase gene DOID:9007096 Stroke ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stroke PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 9061611 Mylk myosin light chain kinase gene DOID:9007234 Carotid Artery Dissection, Internal ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Internal carotid artery dissection PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 9061611 Mylk myosin light chain kinase gene DOID:9008615 Familial Thoracic Aortic Aneurysm 1 ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Annuloaortic ectasia | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:25637381|PMID:25741868|PMID:27879251|PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799 9061611 Mylk myosin light chain kinase gene DOID:9270 alkaptonuria ISO RGD:1322095 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9061611 Mylk myosin light chain kinase gene DOID:9348 carotid artery dissection ISO RGD:1322095 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carotid artery dissection PMID:25326637|PMID:25741868|PMID:28492532|PMID:30755392 9061651 Tpst2 tyrosylprotein sulfotransferase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1313297 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9061651 Tpst2 tyrosylprotein sulfotransferase 2 gene DOID:0110271 cataract 23 ISO RGD:1313297 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cataract 23 PMID:28492532 9061651 Tpst2 tyrosylprotein sulfotransferase 2 gene DOID:630 genetic disease ISO RGD:1313297 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061677 Reln reelin gene DOID:0050453 lissencephaly ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:23757202|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29671837 9061677 Reln reelin gene DOID:0060041 autism spectrum disorder ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24781735|PMID:28191889 9061677 Reln reelin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735880 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:14515139|PMID:14593429|PMID:18414213|PMID:20697953|PMID:23287318|PMID:24467814|PMID:24828792|PMID:25620207|PMID:2564880|PMID:25648840|PMID:25741868|PMID:26467025|PMID:26544041|PMID:27064498|PMID:27884173|PMID:28419454|PMID:28492532|PMID:28677532|PMID:29358611|PMID:29969175|PMID:30891068|PMID:31875159|PMID:33004838 9061677 Reln reelin gene DOID:0060748 familial temporal lobe epilepsy 1 ISO RGD:735880 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:14515139|PMID:14593429|PMID:18414213|PMID:20697953|PMID:23287318|PMID:24467814|PMID:24828792|PMID:24848745|PMID:25620207|PMID:25648840|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28419454|PMID:28492532|PMID:28677532|PMID:29056246|PMID:29358611|PMID:29969175|PMID:30190612|PMID:30891068|PMID:31875159|PMID:33004838|PMID:34426522 9061677 Reln reelin gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:735880 D RGD:7240710 20180130 OMIM 9061677 Reln reelin gene DOID:0060751 familial temporal lobe epilepsy 7 ISO RGD:735880 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:10973257|PMID:14515139|PMID:14593429|PMID:18414213|PMID:20697953|PMID:24828792|PMID:25620207|PMID:25741868|PMID:26046367|PMID:26467025|PMID:27884173|PMID:28454995|PMID:28492532|PMID:29358611|PMID:32860008|PMID:33004838|PMID:33453592|PMID:34569441 9061677 Reln reelin gene DOID:0060902 Norman-Roberts syndrome ISO RGD:735880 D RGD:7240710 20180130 OMIM 9061677 Reln reelin gene DOID:0060902 Norman-Roberts syndrome ISO RGD:735880 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lissencephaly 2 (Norman-Roberts type) | ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition PMID:10973257|PMID:11748497|PMID:14515139|PMID:14593429|PMID:16199547|PMID:16311013|PMID:16958033|PMID:17124408|PMID:17366345|PMID:17431900|PMID:17576681|PMID:17955477|PMID:18414213|PMID:19319887|PMID:19435634|PMID:20697953|PMID:21549172|PMID:23287318|PMID:23334996|PMID:23757202|PMID:24267886|PMID:24385848|PMID:24467814|PMID:24828792|PMID:24848745|PMID:25620207|PMID:25621899|PMID:25640679|PMID:25648840|PMID:25741868|PMID:26046367|PMID:26302956|PMID:26459092|PMID:26467025|PMID:26901136|PMID:27000652|PMID:27884173|PMID:28419454|PMID:28454995|PMID:28492532|PMID:28677532|PMID:28783747|PMID:29056246|PMID:29358611|PMID:29671837|PMID:29706646|PMID:29969175|PMID:30091983|PMID:30190612|PMID:30891068|PMID:31031587|PMID:31069529|PMID:31134136|PMID:31144778|PMID:31209962|PMID:31875159|PMID:32086284|PMID:33004838|PMID:33453592|PMID:33994118|PMID:34426522|PMID:34489640|PMID:34569441|PMID:35668055|PMID:36703223|PMID:7682675|PMID:9536098 9061677 Reln reelin gene DOID:1059 intellectual disability ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:14515139|PMID:24828792|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28677532|PMID:29969175 9061677 Reln reelin gene DOID:10652 Alzheimer's disease ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20610758 9061677 Reln reelin gene DOID:10652 Alzheimer's disease ISO RGD:735880 D RGD:9068941 20200609 RGD protein: increased expression: brain PMID:20025970|REF_RGD_ID:13207521 9061677 Reln reelin gene DOID:10652 Alzheimer's disease ISO RGD:735880 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid (human) PMID:12645087|REF_RGD_ID:729771 9061677 Reln reelin gene DOID:12849 autistic disorder ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:24467814|PMID:25741868|PMID:28492532 9061677 Reln reelin gene DOID:12849 autistic disorder no_association ISO RGD:735880 D RGD:9068941 20200609 RGD increased GGC repeats PMID:15048647|REF_RGD_ID:13207520 9061677 Reln reelin gene DOID:12849 autistic disorder susceptibility ISO RGD:735880 D RGD:9068941 20200609 RGD DNA:repeat:promoter: (human) PMID:11317216|REF_RGD_ID:9743913 9061677 Reln reelin gene DOID:12849 autistic disorder susceptibility ISO RGD:735880 D RGD:9068941 20200609 RGD increased GGC repeats PMID:20436377|REF_RGD_ID:13207517 9061677 Reln reelin gene DOID:14250 Down syndrome ISO RGD:735880 D RGD:9068941 20200609 RGD protein: increased expression: brain PMID:20025970|REF_RGD_ID:13207521 9061677 Reln reelin gene DOID:1459 hypothyroidism ISO RGD:3553 D RGD:9068941 20200609 RGD protein:increased expression:layers of neocortex, hypothalamus (rat) PMID:10436054|REF_RGD_ID:634730 9061677 Reln reelin gene DOID:1470 major depressive disorder ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11126396 9061677 Reln reelin gene DOID:1596 depressive disorder ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 9061677 Reln reelin gene DOID:1824 status epilepticus ISO RGD:3553 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus (rat) PMID:17314278|REF_RGD_ID:2317783 9061677 Reln reelin gene DOID:1826 epilepsy ISO RGD:735880 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 9061677 Reln reelin gene DOID:1826 epilepsy ISO RGD:735880 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:28492532 9061677 Reln reelin gene DOID:3312 bipolar disorder ISO RGD:735880 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11126396|PMID:14708030|PMID:15560956 9061677 Reln reelin gene DOID:3312 bipolar disorder ISO RGD:735880 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus (human) PMID:11126396|REF_RGD_ID:2324681 9061677 Reln reelin gene DOID:3328 temporal lobe epilepsy ISO RGD:735880 D RGD:9068941 20200609 RGD protein: increased methylation: brain PMID:19287316|REF_RGD_ID:13207524 9061677 Reln reelin gene DOID:3328 temporal lobe epilepsy severity ISO RGD:735880 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus (human) PMID:12122039|REF_RGD_ID:2317926 9061677 Reln reelin gene DOID:3329 benign epilepsy with centrotemporal spikes ISO RGD:735880 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:10973257|PMID:14515139|PMID:14593429|PMID:20697953|PMID:24828792|PMID:25620207|PMID:25741868|PMID:26046367|PMID:26467025|PMID:27884173|PMID:28454995|PMID:28492532|PMID:29358611 9061677 Reln reelin gene DOID:3525 middle cerebral artery infarction severity ISO RGD:735881 D RGD:9068941 20200609 RGD PMID:16438965|REF_RGD_ID:13207538 9061677 Reln reelin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9061677 Reln reelin gene DOID:5082 liver cirrhosis ISO RGD:735880 D RGD:9068941 20200609 RGD protein:altered expression:plasma (human) PMID:18449964|REF_RGD_ID:2317777 9061677 Reln reelin gene DOID:5419 schizophrenia ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9061677 Reln reelin gene DOID:630 genetic disease ISO RGD:735880 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10973257|PMID:11748497|PMID:14515139|PMID:16958033|PMID:17431900|PMID:17955477|PMID:18414213|PMID:24267886|PMID:24848745|PMID:25621899|PMID:25648840|PMID:25741868|PMID:26046367|PMID:26467025|PMID:28419454|PMID:28492532|PMID:28677532|PMID:29358611|PMID:29671837|PMID:29969175|PMID:33004838 9061677 Reln reelin gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3553 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver, plasma (rat) PMID:18449964|REF_RGD_ID:2317777 9061677 Reln reelin gene DOID:9004866 Ataxia ISO RGD:735881 D RGD:9068941 20200609 RGD PMID:7715726|REF_RGD_ID:2324615 9061677 Reln reelin gene DOID:9006255 Sacroiliac Arthritis ISO RGD:735880 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arthritis, sacroiliac 9061677 Reln reelin gene DOID:9006534 Nervous System Malformations ISO RGD:735880 D RGD:9068941 20200609 RGD mRNA:splicing errors:exon 36, exon 42:c.5705_5790del, c.6696_6844del (human) PMID:10973257|REF_RGD_ID:1358410 9061756 Ncoa6 nuclear receptor coactivator 6 gene DOID:0050700 cardiomyopathy ISO RGD:735678 D RGD:9068941 20230323 RGD PMID:26029872|REF_RGD_ID:158014899 9061756 Ncoa6 nuclear receptor coactivator 6 gene DOID:12930 dilated cardiomyopathy ISO RGD:735678 D RGD:9068941 20220825 MouseDO 9061756 Ncoa6 nuclear receptor coactivator 6 gene DOID:1324 lung cancer ISO RGD:735677 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:10567404|REF_RGD_ID:9590137 9061756 Ncoa6 nuclear receptor coactivator 6 gene DOID:1612 breast cancer ISO RGD:735677 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:10567404|REF_RGD_ID:9590137 9061756 Ncoa6 nuclear receptor coactivator 6 gene DOID:219 colon cancer ISO RGD:735677 D RGD:9068941 20200609 RGD DNA:amplification:cds (human) PMID:10567404|REF_RGD_ID:9590137 9061756 Ncoa6 nuclear receptor coactivator 6 gene DOID:2843 long QT syndrome ISO RGD:735677 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 9061756 Ncoa6 nuclear receptor coactivator 6 gene DOID:289 endometriosis ISO RGD:735677 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138541 9061756 Ncoa6 nuclear receptor coactivator 6 gene DOID:630 genetic disease ISO RGD:735677 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061756 Ncoa6 nuclear receptor coactivator 6 gene DOID:9352 type 2 diabetes mellitus ISO RGD:620111 D RGD:9068941 20200609 RGD mRNA:decreased expression:pancreatic islet (rat) PMID:16738321|REF_RGD_ID:9590126 9061789 Klhl4 kelch like family member 4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1349490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9061789 Klhl4 kelch like family member 4 gene DOID:12849 autistic disorder ISO RGD:1349490 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9061789 Klhl4 kelch like family member 4 gene DOID:630 genetic disease ISO RGD:1349490 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061812 Nup62cl nucleoporin 62 C-terminal like gene DOID:0050542 Charcot-Marie-Tooth disease type X ISO RGD:1606555 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:24528855|PMID:28492532 9061812 Nup62cl nucleoporin 62 C-terminal like gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9061812 Nup62cl nucleoporin 62 C-terminal like gene DOID:12849 autistic disorder ISO RGD:1606555 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9061812 Nup62cl nucleoporin 62 C-terminal like gene DOID:630 genetic disease ISO RGD:1606555 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061830 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1614131 D RGD:9068941 20220825 MouseDO 9061830 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1346303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9061830 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:0111738 X-linked deafness 7 ISO RGD:1346303 D RGD:7240710 20200325 OMIM 9061830 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:0111738 X-linked deafness 7 ISO RGD:1346303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome PMID:25741868 9061830 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:1059 intellectual disability ISO RGD:1614131 D RGD:9068941 20220825 MouseDO 9061830 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:12849 autistic disorder ISO RGD:1346303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9061830 Gprasp2 G protein-coupled receptor associated sorting protein 2 gene DOID:630 genetic disease ISO RGD:1346303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061860 Rdh10 retinol dehydrogenase 10 gene DOID:630 genetic disease ISO RGD:1351497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061860 Rdh10 retinol dehydrogenase 10 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1351497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9061860 Rdh10 retinol dehydrogenase 10 gene DOID:9001916 Fetal Death ISO RGD:1351497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793605 9061860 Rdh10 retinol dehydrogenase 10 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1351497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793605 9061876 Stard5 StAR related lipid transfer domain containing 5 gene DOID:2717 Bloom syndrome ISO RGD:1317618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9061876 Stard5 StAR related lipid transfer domain containing 5 gene DOID:630 genetic disease ISO RGD:1317618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061876 Stard5 StAR related lipid transfer domain containing 5 gene DOID:9256 colorectal cancer ISO RGD:1317618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9061888 Nobox NOBOX oogenesis homeobox gene DOID:0080857 primary ovarian insufficiency 1 ISO RGD:1604996 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 1 PMID:21837770|PMID:24103315|PMID:25514101|PMID:25741868|PMID:25960166|PMID:26848058|PMID:28492532 9061888 Nobox NOBOX oogenesis homeobox gene DOID:0080862 primary ovarian insufficiency 5 ISO RGD:1604996 D RGD:7240710 20180130 OMIM 9061888 Nobox NOBOX oogenesis homeobox gene DOID:0080862 primary ovarian insufficiency 5 ISO RGD:1604996 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 5 PMID:17701902|PMID:18930203|PMID:21837770|PMID:24103315|PMID:25514101|PMID:25741868|PMID:25960166|PMID:26848058|PMID:28492532|PMID:31042289|PMID:33116287 9061888 Nobox NOBOX oogenesis homeobox gene DOID:0080873 primary ovarian insufficiency 16 ISO RGD:1604996 D RGD:8554872 20220927 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:17701902 9061888 Nobox NOBOX oogenesis homeobox gene DOID:5426 primary ovarian insufficiency ISO RGD:1604996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9061888 Nobox NOBOX oogenesis homeobox gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1604996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure PMID:17701902 9061888 Nobox NOBOX oogenesis homeobox gene DOID:630 genetic disease ISO RGD:1604996 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9061888 Nobox NOBOX oogenesis homeobox gene DOID:9003549 Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) ISO RGD:1604996 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) PMID:22152682|PMID:25458521|PMID:28492532 9061888 Nobox NOBOX oogenesis homeobox gene DOID:9008952 Breast Cancer, Familial ISO RGD:1604996 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868 9061920 Srebf2 sterol regulatory element binding factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730973 D RGD:9068941 20200609 RGD PMID:16046298|REF_RGD_ID:1581418 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:0014667 disease of metabolism ISO RGD:730973 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:10600799|REF_RGD_ID:1581420 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:730972 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:0081147 common variable immunodeficiency 4 ISO RGD:730972 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 PMID:19666484|PMID:28492532 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:10211 cholelithiasis ISO RGD:730973 D RGD:9068941 20200609 RGD PMID:15062879|REF_RGD_ID:1581417 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:10283 prostate cancer ISO RGD:730972 D RGD:9068941 20200609 RGD PMID:15026365|REF_RGD_ID:1581413 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:10283 prostate cancer disease_progression ISO RGD:730972 D RGD:9068941 20200609 RGD PMID:15026365|REF_RGD_ID:1581413 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:1115 sarcoma treatment ISO RGD:730972 D RGD:9068941 20220303 RGD PMID:31089155|REF_RGD_ID:151660332 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:11832 visual epilepsy ISO RGD:1307751 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:brain PMID:19124072|REF_RGD_ID:2308818 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:1936 atherosclerosis treatment ISO RGD:730973 D RGD:9068941 20231019 RGD PMID:23650230|REF_RGD_ID:401842363 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:2527 nephrosis ISO RGD:1307751 D RGD:9068941 20200609 RGD protein:altered localization:nucleus PMID:19147991|REF_RGD_ID:2307223 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:3393 coronary artery disease disease_progression ISO RGD:730972 D RGD:9068941 20231019 RGD associated with type 2 diabetes mellitus;mRNA:increased expression:epicardial fat (human) PMID:28367087|REF_RGD_ID:401842368 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:3407 carotid artery disease ISO RGD:730972 D RGD:9068941 20200609 RGD PMID:12801623|REF_RGD_ID:1581414 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:557 kidney disease ISO RGD:1307751 D RGD:9068941 20200609 RGD protein:altered localization:kidney PMID:15944339|REF_RGD_ID:1625196 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:630 genetic disease ISO RGD:730972 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:684 hepatocellular carcinoma ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21147110 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:783 end stage renal disease ISO RGD:1307751 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:16814791|REF_RGD_ID:2308825 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:783 end stage renal disease ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:8725 vascular dementia ISO RGD:730972 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: :24489C>T, 34995G>T, 68891C>T (human) PMID:16082694|REF_RGD_ID:1581412 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000217 Stomach Neoplasms ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:1307751 D RGD:9068941 20200609 RGD protein:altered localization:liver PMID:16741953|REF_RGD_ID:1581819 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:730972 D RGD:9068941 20200609 RGD PMID:18095312|REF_RGD_ID:2308813 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:730972 D RGD:9068941 20200609 RGD DNA:mutations:exon:p.V623M, p.R645Q (human) PMID:11950857|REF_RGD_ID:1625197 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000808 Hypercholesterolemia ISO RGD:730972 D RGD:9068941 20200609 RGD DNA:polymorphism: :1784G>C (human) PMID:15547298|REF_RGD_ID:1581415 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000918 Disease Progression ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21364753 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30394316 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9002165 Diabetic Nephropathies ISO RGD:730973 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney PMID:16936198|REF_RGD_ID:2308815 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9007692 Insulin Resistance ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20699619 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9008939 Breast Neoplasms ISO RGD:730972 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30394316 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9352 type 2 diabetes mellitus ISO RGD:730972 D RGD:9068941 20200609 RGD PMID:15644403|REF_RGD_ID:1581419 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9455 lipid storage disease ISO RGD:1307751 D RGD:9068941 20200609 RGD PMID:17524234|REF_RGD_ID:2308821 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9744 type 1 diabetes mellitus ISO RGD:730972 D RGD:9068941 20200609 RGD PMID:18682608|REF_RGD_ID:2308812 9061920 Srebf2 sterol regulatory element binding transcription factor 2 gene DOID:9970 obesity ISO RGD:1307751 D RGD:9068941 20200609 RGD protein:increased expression:fat cell, nucleus PMID:9786926|REF_RGD_ID:2308843 9061946 CUNH17orf99 chromosome unknown C17orf99 homolog gene DOID:630 genetic disease ISO RGD:2299182 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:0050744 anaplastic large cell lymphoma ISO RGD:1349130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22155737 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:0050827 rheumatic heart disease ISO RGD:621455 D RGD:9068941 20230202 RGD mRNA, protein:increases expression:mitral valve, heart (rat) PMID:33179113|REF_RGD_ID:155882558 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:0080538 Sweeney-Cox syndrome ISO RGD:1349130 D RGD:7240710 20190315 OMIM 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:0080538 Sweeney-Cox syndrome ISO RGD:1349130 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: SWEENEY-COX SYNDROME | ClinVar Annotator: match by term: Sweeney-Cox syndrome PMID:10649491|PMID:15923834|PMID:18391498|PMID:19952666|PMID:21876555|PMID:24127277|PMID:25271085|PMID:25741868|PMID:27884935|PMID:28369379|PMID:28492532|PMID:29304373|PMID:30450715|PMID:31754721|PMID:8988166|PMID:9259286 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:12960 acrocephalosyndactylia ISO RGD:1349130 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:29304373|PMID:30074960|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33369125|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:1349130 D RGD:7240710 20180725 OMIM 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:1349130 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11854168|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15099347|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17651129|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:22995991|PMID:23527594|PMID:24127277|PMID:25271085|PMID:25741868|PMID:25741869|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:29304373|PMID:30074960|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33369125|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856|PMID:9934984 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:1612 breast cancer disease_progression ISO RGD:1605727 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:7240710 20180130 OMIM 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:20643727|PMID:21520333|PMID:22382802|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28492532|PMID:30651579|PMID:31754721|PMID:31837199|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2 related craniosynostosis PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11754069|PMID:11977182|PMID:12116251|PMID:1240778|PMID:12791045|PMID:17343269|PMID:19373776|PMID:20643727|PMID:22382802|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28492532|PMID:31754721|PMID:31837199|PMID:8968762|PMID:8988167|PMID:9585583|PMID:9792856 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11754069|PMID:11977182|PMID:12116251|PMID:1240778|PMID:12791045|PMID:15923834|PMID:17343269|PMID:18391498|PMID:19373776|PMID:20643727|PMID:21876555|PMID:22382802|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:30450715|PMID:31754721|PMID:31837199|PMID:8968762|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 | ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:29304373|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:29304373|PMID:30074960|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:2340 craniosynostosis ISO RGD:1349130 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis 1 PMID:10094188|PMID:10649491|PMID:10749989|PMID:11248247|PMID:11474656|PMID:11748846|PMID:11754069|PMID:11977182|PMID:11992718|PMID:12116251|PMID:1240778|PMID:12791045|PMID:14513358|PMID:15923834|PMID:16251895|PMID:16838304|PMID:17343269|PMID:17693524|PMID:18391498|PMID:19373776|PMID:19483581|PMID:19755431|PMID:19952666|PMID:20184424|PMID:20643727|PMID:21520333|PMID:21876555|PMID:22382802|PMID:22544111|PMID:22982246|PMID:24127277|PMID:25271085|PMID:25741868|PMID:26114524|PMID:28369379|PMID:28492532|PMID:29037998|PMID:29304373|PMID:30074960|PMID:30450715|PMID:30651579|PMID:31754721|PMID:31837199|PMID:33369125|PMID:33547006|PMID:33937142|PMID:8968762|PMID:8988166|PMID:8988167|PMID:9259286|PMID:9585583|PMID:9792856 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:3393 coronary artery disease ISO RGD:1349130 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:3459 breast carcinoma exacerbates ISO RGD:1349130 D RGD:9068941 20220407 RGD PMID:27524420|REF_RGD_ID:151665821 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:3770 pulmonary fibrosis ISO RGD:1349130 D RGD:9068941 20200609 RGD mRNA:increased expression:lung PMID:19893041|REF_RGD_ID:5131599 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1349130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1349130 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11248247|PMID:11854168|PMID:15099347|PMID:16251895|PMID:19952666|PMID:22995991|PMID:23527594|PMID:25741868|PMID:28492532|PMID:29304373|PMID:9259286 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:6432 pulmonary hypertension treatment ISO RGD:621455 D RGD:9068941 20200924 RGD PMID:25593290|REF_RGD_ID:38500244 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:9000217 Stomach Neoplasms ISO RGD:1349130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19806464 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1349130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19806464 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:9001080 Robinow Sorauf Syndrome ISO RGD:1349130 D RGD:7240710 20180130 OMIM 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:9001080 Robinow Sorauf Syndrome ISO RGD:1349130 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome PMID:10465122|PMID:10749989|PMID:1240778|PMID:12791045|PMID:16251895|PMID:18391498|PMID:19952666|PMID:24127277|PMID:25741868|PMID:28492532 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1349130 D RGD:9068941 20200924 RGD mRNA, protein:increased expression: pulmonary artery,lung: PMID:25593290|REF_RGD_ID:38500244 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:9002862 Craniosynostosis 3 ISO RGD:1349130 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronal craniosynostosis 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1349130 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22155737 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:9004771 Vascular Remodeling ISO RGD:621455 D RGD:9068941 20200924 RGD protein:increased expression:lung PMID:25593290|REF_RGD_ID:38500244 9061955 Twist1 twist family bHLH transcription factor 1 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:621455 D RGD:9068941 20200924 RGD PMID:25593290|REF_RGD_ID:38500244 9061970 Slc2a9 solute carrier family 2 member 9 gene DOID:0060611 abdominal obesity-metabolic syndrome ISO RGD:1314451 D RGD:9068941 20220825 MouseDO 9061970 Slc2a9 solute carrier family 2 member 9 gene DOID:0080653 urolithiasis ISO RGD:12187213 D RGD:9068941 20240111 OMIA Urolithiasis PMID:15501150|PMID:38133239 9061970 Slc2a9 solute carrier family 2 member 9 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1351405 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: HYPERACTIVITY OF CHILDHOOD PMID:10208453|PMID:14732906|PMID:18081165|PMID:27480019 9061970 Slc2a9 solute carrier family 2 member 9 gene DOID:13189 gout ISO RGD:1351405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18327256|PMID:18327257 9061970 Slc2a9 solute carrier family 2 member 9 gene DOID:1920 hyperuricemia ISO RGD:1314451 D RGD:9068941 20220825 MouseDO 9061970 Slc2a9 solute carrier family 2 member 9 gene DOID:1920 hyperuricemia ISO RGD:1351405 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18989453 9061970 Slc2a9 solute carrier family 2 member 9 gene DOID:5419 schizophrenia ISO RGD:1351405 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:27250208|PMID:29255361 9061970 Slc2a9 solute carrier family 2 member 9 gene DOID:630 genetic disease ISO RGD:1351405 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9061970 Slc2a9 solute carrier family 2 member 9 gene DOID:9007605 Renal Hypouricemia ISO RGD:1351405 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dalmatian hypouricemia 9061970 Slc2a9 solute carrier family 2 member 9 gene DOID:9007721 Renal Hypouricemia, 2 ISO RGD:1351405 D RGD:7240710 20180130 OMIM 9061970 Slc2a9 solute carrier family 2 member 9 gene DOID:9007721 Renal Hypouricemia, 2 ISO RGD:1351405 D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Hypouricemia, renal, 2 | ClinVar Annotator: match by term: SLC2A9-related condition PMID:18701466|PMID:19026395|PMID:19189137|PMID:19926891|PMID:21256783|PMID:21536615|PMID:21810765|PMID:22132964|PMID:24397858|PMID:24628802|PMID:24940677|PMID:25741868|PMID:25966807|PMID:26500098|PMID:27116386|PMID:28492532|PMID:29967582 9062004 Ddx46 DEAD-box helicase 46 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:734266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9062004 Ddx46 DEAD-box helicase 46 gene DOID:12849 autistic disorder ISO RGD:734266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 9062004 Ddx46 DEAD-box helicase 46 gene DOID:630 genetic disease ISO RGD:734266 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062004 Ddx46 DEAD-box helicase 46 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:734266 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9062004 Ddx46 DEAD-box helicase 46 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:734266 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9062035 Hoxa10 homeobox A10 gene DOID:299 adenocarcinoma ISO RGD:1320375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21670700 9062035 Hoxa10 homeobox A10 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1320375 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9062035 Hoxa10 homeobox A10 gene DOID:630 genetic disease ISO RGD:1320375 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062035 Hoxa10 homeobox A10 gene DOID:684 hepatocellular carcinoma ISO RGD:1320375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9062035 Hoxa10 homeobox A10 gene DOID:9002739 Female Urogenital Diseases ISO RGD:1320375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16002989 9062035 Hoxa10 homeobox A10 gene DOID:9007715 Endometrial Neoplasms ISO RGD:1320375 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21670700 9062053 Nfya nuclear transcription factor Y subunit alpha gene DOID:630 genetic disease ISO RGD:733450 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062053 Nfya nuclear transcription factor Y subunit alpha gene DOID:9005172 Lung Neoplasms ISO RGD:733450 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16271038 9062087 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:732190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9062087 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0060868 leukoencephalopathy with vanishing white matter ISO RGD:732190 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19909266|PMID:20301435|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:31418856|PMID:31692161|PMID:32180488|PMID:33432707|PMID:33517449 9062087 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0070367 leukoencephalopathy with vanishing white matter 5 ISO RGD:732190 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cree leukoencephalopathy PMID:25741868|PMID:31072091 9062087 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0070372 leukoencephalopathy with vanishing white matter 3 ISO RGD:732190 D RGD:7240710 20230505 OMIM 9062087 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0070372 leukoencephalopathy with vanishing white matter 3 ISO RGD:732190 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 3 PMID:11835386|PMID:15776425|PMID:19158808|PMID:20301435|PMID:22312164|PMID:23932106|PMID:25079571|PMID:25741868|PMID:25761052|PMID:28492532|PMID:31418856|PMID:33517449 9062087 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0070374 leukoencephalopathy with vanishing white matter 1 ISO RGD:732190 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 PMID:25741868|PMID:31072091 9062087 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0080410 familial adenomatous polyposis 2 ISO RGD:732190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:28492532 9062087 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732190 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9062087 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:732190 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9062087 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:630 genetic disease ISO RGD:732190 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23932106|PMID:25741868|PMID:28492532 9062087 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9002704 Leukoencephalopathies ISO RGD:732190 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:21484434|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091 9062087 Eif2b3 eukaryotic translation initiation factor 2B subunit gamma gene DOID:9002704 Leukoencephalopathies ISO RGD:732190 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CACH/VWM syndrome PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19909266|PMID:20301435|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:31418856|PMID:31692161|PMID:32180488|PMID:33432707|PMID:33517449 9062117 Phactr2 phosphatase and actin regulator 2 gene DOID:0080600 COVID-19 ISO RGD:1344472 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9062117 Phactr2 phosphatase and actin regulator 2 gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1344472 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 9062117 Phactr2 phosphatase and actin regulator 2 gene DOID:10652 Alzheimer's disease ISO RGD:1344472 D RGD:9068941 20200609 RGD mRNA: splice variants PMID:20590401|REF_RGD_ID:6483097 9062117 Phactr2 phosphatase and actin regulator 2 gene DOID:14330 Parkinson's disease ISO RGD:1344472 D RGD:9068941 20200609 RGD DNA: snp: intron: rs11155313 PMID:19429005|REF_RGD_ID:6483095 9062117 Phactr2 phosphatase and actin regulator 2 gene DOID:2377 multiple sclerosis ISO RGD:1344472 D RGD:9068941 20200609 RGD DNA: snp: : rs1015340 PMID:20546594|REF_RGD_ID:6483093 9062117 Phactr2 phosphatase and actin regulator 2 gene DOID:630 genetic disease ISO RGD:1344472 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062141 Rnf20 ring finger protein 20 gene DOID:1059 intellectual disability ISO RGD:1323649 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9062141 Rnf20 ring finger protein 20 gene DOID:1612 breast cancer ISO RGD:1323649 D RGD:9068941 20200609 RGD DNA:hypermethylation:promoter (human) PMID:18832071|REF_RGD_ID:9831404 9062141 Rnf20 ring finger protein 20 gene DOID:5204 fructose-1,6-bisphosphatase deficiency ISO RGD:1323649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:18541450|PMID:28492532 9062141 Rnf20 ring finger protein 20 gene DOID:630 genetic disease ISO RGD:1323649 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062141 Rnf20 ring finger protein 20 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323649 D RGD:9068941 20200609 RGD protein:increased expression:urine (human) PMID:21136906|REF_RGD_ID:9831407 9062141 Rnf20 ring finger protein 20 gene DOID:9869 hereditary fructose intolerance syndrome ISO RGD:1323649 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose intolerance PMID:18541450|PMID:28492532 9062141 Rnf20 ring finger protein 20 gene DOID:9953 acute biphenotypic leukemia disease_progression ISO RGD:1323650 D RGD:9068941 20200609 RGD PMID:23412334|REF_RGD_ID:9831405 9062166 Edrf1 erythroid differentiation regulatory factor 1 gene DOID:630 genetic disease ISO RGD:1322314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062204 Kdsr 3-ketodihydrosphingosine reductase gene DOID:0050873 follicular lymphoma ISO RGD:1317161 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25526675 9062204 Kdsr 3-ketodihydrosphingosine reductase gene DOID:0050873 follicular lymphoma ISO RGD:1317161 D RGD:9068941 20200609 RGD PMID:8417785|REF_RGD_ID:1598985 9062204 Kdsr 3-ketodihydrosphingosine reductase gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1317161 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 9062204 Kdsr 3-ketodihydrosphingosine reductase gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1317161 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:18606301|PMID:22271396|PMID:24253414|PMID:27038415|PMID:28492532 9062204 Kdsr 3-ketodihydrosphingosine reductase gene DOID:0080250 erythrokeratodermia variabilis et progressiva 4 ISO RGD:1317161 D RGD:7240710 20190315 OMIM 9062204 Kdsr 3-ketodihydrosphingosine reductase gene DOID:0080250 erythrokeratodermia variabilis et progressiva 4 ISO RGD:1317161 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4 PMID:25741868|PMID:28492532|PMID:28575652|PMID:28774589 9062204 Kdsr 3-ketodihydrosphingosine reductase gene DOID:630 genetic disease ISO RGD:1317161 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062225 Glipr1 GLI pathogenesis related 1 gene DOID:2154 nephroblastoma ISO RGD:1314328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18030365 9062225 Glipr1 GLI pathogenesis related 1 gene DOID:630 genetic disease ISO RGD:1314328 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062225 Glipr1 GLI pathogenesis related 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1314328 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9062235 Prcc proline rich mitotic checkpoint control factor gene DOID:0050539 Charcot-Marie-Tooth disease type 2 ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29845577 9062235 Prcc proline rich mitotic checkpoint control factor gene DOID:0111940 immunodeficiency 42 ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9062235 Prcc proline rich mitotic checkpoint control factor gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9062235 Prcc proline rich mitotic checkpoint control factor gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1319153 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9062235 Prcc proline rich mitotic checkpoint control factor gene DOID:1540 parathyroid carcinoma ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9062235 Prcc proline rich mitotic checkpoint control factor gene DOID:4450 renal cell carcinoma ISO RGD:1319153 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:25741868 9062235 Prcc proline rich mitotic checkpoint control factor gene DOID:4465 papillary renal cell carcinoma ISO RGD:1319153 D RGD:7240710 20180919 OMIM 9062235 Prcc proline rich mitotic checkpoint control factor gene DOID:5812 MHC class II deficiency ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9062235 Prcc proline rich mitotic checkpoint control factor gene DOID:630 genetic disease ISO RGD:1319153 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062235 Prcc proline rich mitotic checkpoint control factor gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1319153 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:25741868 9062235 Prcc proline rich mitotic checkpoint control factor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1319153 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9062262 Kcnip3 potassium voltage-gated channel interacting protein 3 gene DOID:630 genetic disease ISO RGD:735835 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062278 Capza2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:0080600 COVID-19 ISO RGD:1350794 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9062278 Capza2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:1059 intellectual disability ISO RGD:1350794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:32338762 9062278 Capza2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:4450 renal cell carcinoma ISO RGD:1350794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic PMID:28492532 9062278 Capza2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1350794 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9062278 Capza2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1350794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062278 Capza2 capping actin protein of muscle Z-line subunit alpha 2 gene DOID:9006972 Renal Cell Carcinoma 1 ISO RGD:1350794 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 9062291 Mepe matrix extracellular phosphoglycoprotein gene DOID:10573 osteomalacia ISO RGD:736255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11414762 9062291 Mepe matrix extracellular phosphoglycoprotein gene DOID:630 genetic disease ISO RGD:736255 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062291 Mepe matrix extracellular phosphoglycoprotein gene DOID:898 autosomal dominant polycystic kidney disease ISO RGD:736255 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:25741868 9062291 Mepe matrix extracellular phosphoglycoprotein gene DOID:9002589 Bone Fractures ISO RGD:736255 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22504420 9062298 Smoc1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISO RGD:1348217 D RGD:7240710 20180130 OMIM 9062298 Smoc1 SPARC related modular calcium binding 1 gene DOID:0060861 microphthalmia with limb anomalies ISO RGD:1348217 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microphthalmia with limb anomalies PMID:19208380|PMID:21194678|PMID:21194680|PMID:23646827|PMID:25741868|PMID:28085523|PMID:28492532 9062298 Smoc1 SPARC related modular calcium binding 1 gene DOID:630 genetic disease ISO RGD:1348217 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9062298 Smoc1 SPARC related modular calcium binding 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1348217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9062314 Upk1b uroplakin 1B gene DOID:630 genetic disease ISO RGD:1317213 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062314 Upk1b uroplakin 1B gene DOID:9008939 Breast Neoplasms ISO RGD:1317213 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25330770 9062331 Ptpre protein tyrosine phosphatase receptor type E gene DOID:0060390 distal 10q deletion syndrome ISO RGD:1346203 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal 10q deletion syndrome PMID:31690835 9062331 Ptpre protein tyrosine phosphatase receptor type E gene DOID:630 genetic disease ISO RGD:1346203 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0014667 disease of metabolism ISO RGD:69474 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:liver PMID:10600799|REF_RGD_ID:1581420 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0014667 disease of metabolism susceptibility ISO RGD:69473 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18692268|REF_RGD_ID:2308809 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0050676 Birt-Hogg-Dube syndrome ISO RGD:69473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome PMID:20188345|PMID:28492532 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0060768 Smith-Magenis syndrome ISO RGD:69473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25087610 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0060853 Potocki-Lupski syndrome ISO RGD:69473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Potocki-Lupski syndrome PMID:28837307 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23603006|PMID:24633463 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease disease_progression ISO RGD:69474 D RGD:9068941 20231005 RGD protein:increased expression:liver (mouse) PMID:29173234|REF_RGD_ID:401827867 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0080208 metabolic dysfunction-associated steatotic liver disease treatment ISO RGD:69423 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:69423 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:liver (rat) treatment with INT-767 PMID:30038487|REF_RGD_ID:15092090 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:69423 D RGD:9068941 20230914 RGD PMID:28458350|REF_RGD_ID:401799674 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0081145 common variable immunodeficiency 2 ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:28492532 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0110980 Joubert syndrome 1 ISO RGD:69473 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome PMID:25741868|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:69474 D RGD:9068941 20231019 RGD PMID:29197188|REF_RGD_ID:401842366 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:12351 alcoholic hepatitis treatment ISO RGD:69423 D RGD:9068941 20200609 RGD PMID:27939985|REF_RGD_ID:15036816 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:12849 autistic disorder ISO RGD:69473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:1936 atherosclerosis treatment ISO RGD:69474 D RGD:9068941 20231026 RGD PMID:23650230|PMID:29593532|PMID:31601342|PMID:33011372|REF_RGD_ID:401827839|REF_RGD_ID:401842363|REF_RGD_ID:401842381|REF_RGD_ID:401850587 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:3393 coronary artery disease disease_progression ISO RGD:69473 D RGD:9068941 20231019 RGD associated with type 2 diabetes mellitus; mRNA:increased expression:epicardial fat (human) PMID:28367087|REF_RGD_ID:401842368 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:3393 coronary artery disease severity ISO RGD:69473 D RGD:9068941 20231019 RGD mRNA:decreased expression:blood serum (human) PMID:31610782|REF_RGD_ID:401842364 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:3393 coronary artery disease susceptibility ISO RGD:69473 D RGD:9068941 20231005 RGD DNA:SNP, haplotype:: -36delG (human) PMID:12752570|REF_RGD_ID:401827912 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:557 kidney disease ISO RGD:69423 D RGD:9068941 20200609 RGD protein:altered localization:kidney PMID:15944339|REF_RGD_ID:1625196 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:630 genetic disease ISO RGD:69473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:684 hepatocellular carcinoma ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14563831|PMID:21147110 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:783 end stage renal disease ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9000038 Urban Schosser Spohn Syndrome ISO RGD:69473 D RGD:7240710 20201111 OMIM 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9000038 Urban Schosser Spohn Syndrome ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary mucoepithelial dysplasia PMID:25741868|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9000469 Viral Myocarditis severity ISO RGD:69474 D RGD:9068941 20231026 RGD mRNA:increased expression:heart (mouse) PMID:25998987|REF_RGD_ID:401850594 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:69423 D RGD:9068941 20200609 RGD protein:altered localization:liver PMID:16741953|REF_RGD_ID:1581819 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69423 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney PMID:18613221|REF_RGD_ID:2308806 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69473 D RGD:9068941 20200609 RGD PMID:17961514|REF_RGD_ID:2308811 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69474 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17961514|REF_RGD_ID:2308811 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69474 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney PMID:16936198|REF_RGD_ID:2308815 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9002165 Diabetic Nephropathies ISO RGD:69474 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:kidney PMID:16046298|REF_RGD_ID:1581418 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9002231 Fetal Growth Retardation ISO RGD:69423 D RGD:9068941 20200609 RGD PMID:19017816|REF_RGD_ID:2308805 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9004587 Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 ISO RGD:69473 D RGD:7240710 20200930 OMIM 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9004587 Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 ISO RGD:69473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: IFAP syndrome 2 PMID:25741868|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69423 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:renal proximal tubule, epithelial cell PMID:19048273|REF_RGD_ID:2308804 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10900012|PMID:23090186 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:69423 D RGD:9068941 20231026 RGD PMID:32535406|REF_RGD_ID:401850547 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9006599 Hypertriglyceridemia treatment ISO RGD:69423 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9006646 Metabolic Syndrome ISO RGD:69423 D RGD:9068941 20231005 RGD mRNA:increased expression:liver (rat) PMID:11934685|REF_RGD_ID:628329 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9006646 Metabolic Syndrome ameliorates ISO RGD:69474 D RGD:9068941 20231026 RGD PMID:31353547|REF_RGD_ID:401850595 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9006646 Metabolic Syndrome disease_progression ISO RGD:69474 D RGD:9068941 20231005 RGD protein:increased expression:liver (mouse) PMID:29173234|REF_RGD_ID:401827867 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance ISO RGD:69423 D RGD:9068941 20200609 RGD associated with Fatty Liver;mRNA:increased expression:liver PMID:17241878|REF_RGD_ID:2308807 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22658938 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance susceptibility ISO RGD:69473 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP PMID:18692268|REF_RGD_ID:2308809 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9007692 Insulin Resistance treatment ISO RGD:69423 D RGD:9068941 20230720 RGD PMID:26394137|REF_RGD_ID:329955565 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9352 type 2 diabetes mellitus ISO RGD:69423 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:19357831|REF_RGD_ID:2308802 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9352 type 2 diabetes mellitus susceptibility ISO RGD:69473 D RGD:9068941 20200609 RGD DNA:SNPs PMID:18692268|REF_RGD_ID:2308809 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9452 steatotic liver disease ISO RGD:69473 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24469900 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9452 steatotic liver disease treatment ISO RGD:69474 D RGD:9068941 20231019 RGD PMID:27813192|REF_RGD_ID:401842386 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9455 lipid storage disease ISO RGD:69423 D RGD:9068941 20200609 RGD PMID:17524234|REF_RGD_ID:2308821 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9743 diabetic neuropathy ISO RGD:69423 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent PMID:19423844|REF_RGD_ID:2308808 9062386 Srebf1 sterol regulatory element binding transcription factor 1 gene DOID:9970 obesity ISO RGD:69473 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1347586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:10588 adrenoleukodystrophy severity ISO RGD:1347586 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid PMID:23185624|REF_RGD_ID:13204814 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:1059 intellectual disability ISO RGD:1347586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:12704 ataxia telangiectasia ISO RGD:1347586 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:2773 contact dermatitis ISO RGD:1347586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:2841 asthma ISO RGD:1347586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16926187 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:630 genetic disease ISO RGD:1347586 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:7148 rheumatoid arthritis ISO RGD:1347586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19192274 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:783 end stage renal disease ISO RGD:1347586 D RGD:9068941 20200609 RGD associated with Hypertension; protein:increased expression:plasma (human) PMID:19886850|REF_RGD_ID:7207051 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:9000217 Stomach Neoplasms ISO RGD:1347586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22285823 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022614 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:9005172 Lung Neoplasms ISO RGD:1347586 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022614 9062409 Mmp10 matrix metallopeptidase 10 gene DOID:9351 diabetes mellitus ISO RGD:1347586 D RGD:9068941 20200609 RGD PMID:11159210|REF_RGD_ID:8693313 9062428 Vwce von Willebrand factor C and EGF domains gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1602968 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9062428 Vwce von Willebrand factor C and EGF domains gene DOID:1059 intellectual disability ISO RGD:1602968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, severe 9062428 Vwce von Willebrand factor C and EGF domains gene DOID:630 genetic disease ISO RGD:1602968 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062428 Vwce von Willebrand factor C and EGF domains gene DOID:9007661 Dwarfism ISO RGD:1602968 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 9062452 Prune1 prune exopolyphosphatase 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9062452 Prune1 prune exopolyphosphatase 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9062452 Prune1 prune exopolyphosphatase 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350944 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9062452 Prune1 prune exopolyphosphatase 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9062452 Prune1 prune exopolyphosphatase 1 gene DOID:5812 MHC class II deficiency ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9062452 Prune1 prune exopolyphosphatase 1 gene DOID:630 genetic disease ISO RGD:1350944 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9062452 Prune1 prune exopolyphosphatase 1 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:1350944 D RGD:7240710 20190315 OMIM 9062452 Prune1 prune exopolyphosphatase 1 gene DOID:9005194 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES ISO RGD:1350944 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies PMID:25741868|PMID:26539891|PMID:28211990|PMID:28334956|PMID:28492532|PMID:29797509|PMID:29940663|PMID:30556349|PMID:33105479 9062452 Prune1 prune exopolyphosphatase 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350944 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9062469 Cdadc1 cytidine and dCMP deaminase domain containing 1 gene DOID:0060391 chromosome 13q14 deletion syndrome ISO RGD:1323516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome 9062469 Cdadc1 cytidine and dCMP deaminase domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1323516 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9062469 Cdadc1 cytidine and dCMP deaminase domain containing 1 gene DOID:630 genetic disease ISO RGD:1323516 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062499 Fat2 FAT atypical cadherin 2 gene DOID:0050952 spastic ataxia ISO RGD:732170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25741868 9062499 Fat2 FAT atypical cadherin 2 gene DOID:0080287 spinocerebellar ataxia 45 ISO RGD:732170 D RGD:7240710 20190315 OMIM 9062499 Fat2 FAT atypical cadherin 2 gene DOID:0080287 spinocerebellar ataxia 45 ISO RGD:732170 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45 PMID:20301317|PMID:25741868|PMID:28492532|PMID:29053796|PMID:29847346 9062499 Fat2 FAT atypical cadherin 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:732170 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9062499 Fat2 FAT atypical cadherin 2 gene DOID:3748 esophagus squamous cell carcinoma ISO RGD:732170 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25151357 9062499 Fat2 FAT atypical cadherin 2 gene DOID:630 genetic disease ISO RGD:732170 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9062499 Fat2 FAT atypical cadherin 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:732170 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9062530 H1-2 H1.2 linker histone, cluster member gene DOID:630 genetic disease ISO RGD:1343160 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062530 H1-2 H1.2 linker histone, cluster member gene DOID:9008939 Breast Neoplasms ISO RGD:1343160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17659439 9062530 H1-2 H1.2 linker histone, cluster member gene DOID:9119 acute myeloid leukemia ISO RGD:1343160 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17330099 9062530 H1-2 H1.2 linker histone, cluster member gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:1343160 D RGD:9068941 20200609 RGD DNA:SNP, haplotype:enhancer: (rs807212) (human) PMID:19806355|REF_RGD_ID:10755490 9062546 Ccdc188 coiled-coil domain containing 188 gene DOID:0060413 chromosome 22q11.2 deletion syndrome, distal ISO RGD:10400964 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal PMID:31690835 9062546 Ccdc188 coiled-coil domain containing 188 gene DOID:0060436 chromosome 22q11.2 microduplication syndrome ISO RGD:10400964 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome PMID:25741868|PMID:31690835 9062546 Ccdc188 coiled-coil domain containing 188 gene DOID:11198 DiGeorge syndrome ISO RGD:10400964 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome 9062546 Ccdc188 coiled-coil domain containing 188 gene DOID:12583 velocardiofacial syndrome ISO RGD:10400964 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome PMID:25741868 9062546 Ccdc188 coiled-coil domain containing 188 gene DOID:12849 autistic disorder ISO RGD:10400964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9062546 Ccdc188 coiled-coil domain containing 188 gene DOID:5419 schizophrenia ISO RGD:10400964 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9062573 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:0050572 cone-rod dystrophy ISO RGD:1604537 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:36909829|PMID:9536098 9062573 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:0110814 hereditary spastic paraplegia 63 ISO RGD:1604537 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 PMID:23911318|PMID:28492532 9062573 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:12849 autistic disorder ISO RGD:1604537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9062573 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:630 genetic disease ISO RGD:1604537 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9062573 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:8501 fundus dystrophy ISO RGD:1604537 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245|PMID:28492532 9062573 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:9005737 Cone-Rod Dystrophy 21 ISO RGD:1604537 D RGD:7240710 20180130 OMIM 9062573 Dram2 DNA damage regulated autophagy modulator 2 gene DOID:9005737 Cone-Rod Dystrophy 21 ISO RGD:1604537 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 21 PMID:25741868|PMID:25983245|PMID:28492532|PMID:32483926|PMID:35806404 9062605 Rhot1 ras homolog family member T1 gene DOID:231 motor neuron disease ISO RGD:1315970 D RGD:9068941 20220825 MouseDO 9062605 Rhot1 ras homolog family member T1 gene DOID:630 genetic disease ISO RGD:1315969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062637 Hsh2d hematopoietic SH2 domain containing gene DOID:630 genetic disease ISO RGD:1313876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062659 Pepd peptidase D gene DOID:0050117 disease by infectious agent ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 9062659 Pepd peptidase D gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:1354493 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9062659 Pepd peptidase D gene DOID:0111540 prolidase deficiency ISO RGD:1354493 D RGD:7240710 20180130 OMIM 9062659 Pepd peptidase D gene DOID:0111540 prolidase deficiency ISO RGD:1354493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency PMID:10721675|PMID:12384772|PMID:15309682|PMID:16199547|PMID:16470701|PMID:1688567|PMID:17142620|PMID:17576681|PMID:19308961|PMID:1972707|PMID:2010534|PMID:23516557|PMID:2365824|PMID:24033266|PMID:25460580|PMID:25741868|PMID:27067078|PMID:28062424|PMID:28492532|PMID:29943458|PMID:33877262|PMID:6637477|PMID:8198124|PMID:8900231|PMID:9536098 9062659 Pepd peptidase D gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:11075 D RGD:9068941 20220825 MouseDO 9062659 Pepd peptidase D gene DOID:1579 respiratory system disease ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 9062659 Pepd peptidase D gene DOID:630 genetic disease ISO RGD:1354493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9062659 Pepd peptidase D gene DOID:8549 chronic ulcer of skin ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 9062659 Pepd peptidase D gene DOID:9002720 Splenomegaly ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 9062659 Pepd peptidase D gene DOID:9005292 Organophosphate Poisoning ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22982776 9062659 Pepd peptidase D gene DOID:9005369 Hepatomegaly ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16470701 9062659 Pepd peptidase D gene DOID:9008086 Developmental Disabilities ISO RGD:1354493 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:28492532 9062659 Pepd peptidase D gene DOID:9352 type 2 diabetes mellitus ISO RGD:1354493 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22158537 9062683 Csn2 casein beta gene DOID:305 carcinoma ISO RGD:1352883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 9062683 Csn2 casein beta gene DOID:630 genetic disease ISO RGD:1352883 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062683 Csn2 casein beta gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1352883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 9062683 Csn2 casein beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1352883 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16316942|PMID:9879772 9062683 Csn2 casein beta gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:61981 D RGD:9068941 20220324 RGD mRNA:increased expression:mammary gland (rat) PMID:16316942|REF_RGD_ID:2306898 9062696 Mrpl21 mitochondrial ribosomal protein L21 gene DOID:1059 intellectual disability ISO RGD:1320967 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9062696 Mrpl21 mitochondrial ribosomal protein L21 gene DOID:630 genetic disease ISO RGD:1320967 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062696 Mrpl21 mitochondrial ribosomal protein L21 gene DOID:9003840 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations ISO RGD:1320967 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations PMID:28492532 9062696 Mrpl21 mitochondrial ribosomal protein L21 gene DOID:9008004 Aicardi-Goutieres Syndrome 3 ISO RGD:1320967 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 PMID:28492532 9062717 Myo9b myosin IXB gene DOID:10608 celiac disease ISO RGD:736717 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Celiac disease, susceptibility to, 4 PMID:15822038|PMID:16282976|PMID:25741868|PMID:28492532 9062717 Myo9b myosin IXB gene DOID:10608 celiac disease susceptibility ISO RGD:736717 D RGD:7240710 20190502 OMIM 9062717 Myo9b myosin IXB gene DOID:630 genetic disease ISO RGD:736717 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062717 Myo9b myosin IXB gene DOID:9005539 Familial Prostate Cancer ISO RGD:736717 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 9062780 Ric8a RIC8 guanine nucleotide exchange factor A gene DOID:630 genetic disease ISO RGD:1604802 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062780 Ric8a RIC8 guanine nucleotide exchange factor A gene DOID:9008939 Breast Neoplasms ISO RGD:1604802 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29915430 9062800 Inpp4a inositol polyphosphate-4-phosphatase type I A gene DOID:0070014 autosomal dominant dyskeratosis congenita 1 ISO RGD:68560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 PMID:15849264|PMID:21931702|PMID:25741868 9062800 Inpp4a inositol polyphosphate-4-phosphatase type I A gene DOID:1059 intellectual disability ISO RGD:68560 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9062800 Inpp4a inositol polyphosphate-4-phosphatase type I A gene DOID:630 genetic disease ISO RGD:68560 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:62373 D RGD:9068941 20220204 RGD protein:increased expression:tongue (mouse) PMID:30624777|REF_RGD_ID:151347668 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:1826 epilepsy treatment ISO RGD:62081 D RGD:9068941 20200609 RGD PMID:23928226|REF_RGD_ID:9685365 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:264 hemangiopericytoma ISO RGD:1605434 D RGD:9068941 20221110 RGD mRNA:increased expression:anterior temporal lobe PMID:26951238|REF_RGD_ID:155663351 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:3021 acute kidney failure ISO RGD:62081 D RGD:9068941 20200609 RGD mRNA:increased expression:kidney collecting duct (rat) PMID:24397211|REF_RGD_ID:9685383 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:3021 acute kidney failure ISO RGD:62081 D RGD:9068941 20200609 RGD protein:increased expression:kidney tubule (rat) PMID:24325066|REF_RGD_ID:9685389 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:3068 glioblastoma ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:3181 oligodendroglioma ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20038814 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:62373 D RGD:9068941 20200609 RGD protein:increased expression:spinal chord PMID:26067594|REF_RGD_ID:13524575 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:3565 meningioma ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:3587 pancreatic ductal carcinoma ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19208345 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:3908 lung non-small cell carcinoma ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21994468 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:5199 ureteral obstruction ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:5419 schizophrenia ISO RGD:1605434 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:630 genetic disease ISO RGD:1605434 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:8552 chronic myeloid leukemia ISO RGD:62081 D RGD:9068941 20200609 RGD rat gene in a mouse model PMID:19861684|REF_RGD_ID:9685380 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:8947 diabetic retinopathy ISO RGD:62373 D RGD:9068941 20221110 RGD mRNA:increased expression:retina: PMID:30787185|REF_RGD_ID:155663348 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:9002904 Primitive Neuroectodermal Tumors ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:9002928 Colonic Neoplasms ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19147571 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25061499 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:9003936 Cardiomegaly treatment ISO RGD:62373 D RGD:9068941 20221111 RGD PMID:23188126|REF_RGD_ID:155663352 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:9005172 Lung Neoplasms ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17804716 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:9008939 Breast Neoplasms ISO RGD:1605434 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20197467|PMID:21036696 9062857 Hes1 hes family bHLH transcription factor 1 gene DOID:9351 diabetes mellitus ISO RGD:62373 D RGD:9068941 20221110 RGD protein:increased expression:skin: PMID:30886104|REF_RGD_ID:155646129 9062865 Ribc2 RIB43A domain with coiled-coils 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1351194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9062865 Ribc2 RIB43A domain with coiled-coils 2 gene DOID:1059 intellectual disability ISO RGD:1351194 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9062865 Ribc2 RIB43A domain with coiled-coils 2 gene DOID:630 genetic disease ISO RGD:1351194 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062865 Ribc2 RIB43A domain with coiled-coils 2 gene DOID:9008939 Breast Neoplasms ISO RGD:1351194 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21466612 9062877 Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:1059 intellectual disability ISO RGD:1316748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9062877 Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:700 mitochondrial metabolism disease ISO RGD:1316748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25741868|PMID:32969598 9062877 Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9001378 Nuclear Type Mitochondrial Complex I Deficiency 36 ISO RGD:1316748 D RGD:7240710 20210203 OMIM 9062877 Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9001378 Nuclear Type Mitochondrial Complex I Deficiency 36 ISO RGD:1316748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 PMID:25741868|PMID:32969598 9062877 Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9007096 Stroke ISO RGD:1307511 D RGD:9068941 20200609 RGD incidence 40% in heterozygous SHR-Ndufc2 rats vs 0% in parental SHR rats after 3 months of stroke-permissive diet PMID:26888427|REF_RGD_ID:11040458 9062877 Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 gene DOID:9007096 Stroke susceptibility ISO RGD:1316748 D RGD:9068941 20200609 RGD DNA:SNPs,haplotype::rs641836, rs11237379 (human) PMID:26888427|REF_RGD_ID:11040458 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:0050073 invasive aspergillosis ISO RGD:1332345 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:20926800|REF_RGD_ID:7483599 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:0050486 exanthem ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin PMID:18384452|REF_RGD_ID:7483602 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma disease_progression ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:skin, serum PMID:22048239|REF_RGD_ID:7483601 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:15287366|REF_RGD_ID:7483593 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:0080600 COVID-19 ISO RGD:1347908 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:10140 dry eye syndrome treatment ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:23702781|REF_RGD_ID:7483582 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:11168 anogenital venereal wart ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:17545018|REF_RGD_ID:7483603 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:11729 Lyme disease ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid PMID:23371320|REF_RGD_ID:7488895 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:1205 allergic disease ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:12895 keratoconjunctivitis sicca ISO RGD:735948 D RGD:9068941 20200609 RGD mRNA:increased expression:conjunctiva, cornea PMID:20007286|REF_RGD_ID:7483613 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:1564 fungal infectious disease ISO RGD:1347908 D RGD:9068941 20200609 RGD associated with Rhinosinusitis PMID:22287435|REF_RGD_ID:7483612 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:1793 pancreatic cancer ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:1793 pancreatic cancer ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:10225458|REF_RGD_ID:7483623 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3646 D RGD:9068941 20200609 RGD PMID:19428685|REF_RGD_ID:7488896 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:2316 brain ischemia ISO RGD:3646 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:9916893|REF_RGD_ID:69987 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:2377 multiple sclerosis ISO RGD:1347908 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:31068361 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:2722 acrodermatitis ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA:decreased expression:skin PMID:17606602|REF_RGD_ID:7483609 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:2841 asthma ISO RGD:1347908 D RGD:9068941 20200609 RGD associated with Allergic Rhinitis;protein:increased expression:serum PMID:22469443|REF_RGD_ID:7483618 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:2841 asthma ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion PMID:18422729|REF_RGD_ID:7483597 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:2986 IgA glomerulonephritis disease_progression ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:23192593|REF_RGD_ID:7483632 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:3178 skin papilloma ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:decreased expression:skin PMID:21715145|REF_RGD_ID:7483622 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:3310 atopic dermatitis severity ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:plasma PMID:11133838|REF_RGD_ID:7483580 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:3310 atopic dermatitis treatment ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:19162238|REF_RGD_ID:7483583 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:37 skin disease ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:418 systemic scleroderma ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:21742595|REF_RGD_ID:7483587 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:5199 ureteral obstruction ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28318631 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:552 pneumonia ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:630 genetic disease ISO RGD:1347908 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:8577 ulcerative colitis ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16306769 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:8577 ulcerative colitis treatment ISO RGD:3646 D RGD:9068941 20200609 RGD PMID:21887805|REF_RGD_ID:7488892 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:8893 psoriasis ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:22895364|REF_RGD_ID:7483594 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:8893 psoriasis ISO RGD:1347908 D RGD:9068941 20200609 RGD mRNA:increased expression:skin PMID:10843722|REF_RGD_ID:7483581 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:8893 psoriasis treatment ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:16081850|REF_RGD_ID:7483625 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9000238 Acute-On-Chronic Liver Failure ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19247846|REF_RGD_ID:14995923 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3646 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral artery PMID:17977275|REF_RGD_ID:7488893 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9000998 Brain Injuries treatment ISO RGD:3646 D RGD:9068941 20200609 RGD PMID:22040257|REF_RGD_ID:7483630 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9001472 Nasal Polyps ISO RGD:1347908 D RGD:9068941 20200609 RGD associated with Allergic Rhinitis PMID:19027509|REF_RGD_ID:7483586 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9001472 Nasal Polyps ISO RGD:1347908 D RGD:9068941 20200609 RGD associated with Rhinosinusitis PMID:22287435|REF_RGD_ID:7483612 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30603057 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9002165 Diabetic Nephropathies ISO RGD:3646 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:17664181|REF_RGD_ID:7483629 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9002395 Hypothermia ISO RGD:3646 D RGD:9068941 20200609 RGD PMID:16469832|REF_RGD_ID:2311385 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9002928 Colonic Neoplasms ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15059925 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9003036 Oral Lichen Planus ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:16454813|REF_RGD_ID:7483584 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9004118 Experimental Melanoma treatment ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:14500387|REF_RGD_ID:7483600 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9004590 Acute Liver Failure ISO RGD:1347908 D RGD:9068941 20200609 RGD protein:increased expression:serum: PMID:19247846|REF_RGD_ID:14995923 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21340626 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9005941 Rhinosinusitis ISO RGD:1347908 D RGD:9068941 20200609 RGD PMID:16702571|REF_RGD_ID:7483585 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9007964 Arsenic Poisoning ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9008443 Colorectal Neoplasms treatment ISO RGD:1332345 D RGD:9068941 20200609 RGD PMID:14500387|REF_RGD_ID:7483600 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9008939 Breast Neoplasms ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16298037 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1347908 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21340626 9062891 Ccl20 C-C motif chemokine ligand 20 gene DOID:9938 dacryocystitis ISO RGD:735948|RGD:737488 D RGD:9068941 20200609 RGD PMID:23116218|REF_RGD_ID:7483616 9062901 Muc3a mucin 3A, cell surface associated gene DOID:3587 pancreatic ductal carcinoma disease_progression ISO RGD:736898 D RGD:9068941 20200609 RGD mRNA:increased expression:pancreas PMID:12657964|REF_RGD_ID:2324946 9062901 Muc3a mucin 3A, cell surface associated gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:736898 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9062901 Muc3a mucin 3A, cell surface associated gene DOID:4947 cholangiocarcinoma ISO RGD:736898 D RGD:9068941 20200609 RGD mRNA:decreased expression:bile duct PMID:11680592|REF_RGD_ID:2324948 9062927 Unc13a unc-13 homolog A gene DOID:0050753 cerebellar ataxia ISO RGD:1345956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28192369 9062927 Unc13a unc-13 homolog A gene DOID:0060193 amyotrophic lateral sclerosis type 1 ISO RGD:1345956 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:25741868 9062927 Unc13a unc-13 homolog A gene DOID:1059 intellectual disability ISO RGD:1345956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9062927 Unc13a unc-13 homolog A gene DOID:12849 autistic disorder ISO RGD:1345956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9062927 Unc13a unc-13 homolog A gene DOID:332 amyotrophic lateral sclerosis ISO RGD:1345956 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868|PMID:27790088 9062927 Unc13a unc-13 homolog A gene DOID:332 amyotrophic lateral sclerosis no_association ISO RGD:1345956 D RGD:9068941 20200609 RGD DNA:SNP:intron:rs12608932 (human) PMID:20385924|REF_RGD_ID:5686382 9062927 Unc13a unc-13 homolog A gene DOID:630 genetic disease ISO RGD:1345956 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9062927 Unc13a unc-13 homolog A gene DOID:9000495 Tremor ISO RGD:1345956 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: tremors PMID:25741868|PMID:28192369 9062927 Unc13a unc-13 homolog A gene DOID:9002231 Fetal Growth Retardation ISO RGD:619722 D RGD:9068941 20200609 RGD PMID:18787382|REF_RGD_ID:5686390 9062927 Unc13a unc-13 homolog A gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1345956 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9062927 Unc13a unc-13 homolog A gene DOID:9007956 Febrile Seizures ISO RGD:1345956 D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: febrile convulsion PMID:25741868|PMID:28192369 9062977 Osr2 odd-skipped related transciption factor 2 gene DOID:0111590 Cohen syndrome ISO RGD:1345615 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 9062977 Osr2 odd-skipped related transciption factor 2 gene DOID:289 endometriosis ISO RGD:1345615 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642 9062977 Osr2 odd-skipped related transciption factor 2 gene DOID:630 genetic disease ISO RGD:1345615 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062988 Lat2 linker for activation of T cells family member 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 9062988 Lat2 linker for activation of T cells family member 2 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:1342914 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32587277 9062988 Lat2 linker for activation of T cells family member 2 gene DOID:12849 autistic disorder ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9062988 Lat2 linker for activation of T cells family member 2 gene DOID:1928 Williams-Beuren syndrome ISO RGD:1342914 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 9062988 Lat2 linker for activation of T cells family member 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9062988 Lat2 linker for activation of T cells family member 2 gene DOID:5419 schizophrenia ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9062988 Lat2 linker for activation of T cells family member 2 gene DOID:630 genetic disease ISO RGD:1342914 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9062988 Lat2 linker for activation of T cells family member 2 gene DOID:8445 intestinal volvulus ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 9062988 Lat2 linker for activation of T cells family member 2 gene DOID:9000918 Disease Progression ISO RGD:1342914 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32587277 9062988 Lat2 linker for activation of T cells family member 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9062988 Lat2 linker for activation of T cells family member 2 gene DOID:9004441 Experimental Leukemia ISO RGD:1342914 D RGD:9068941 20220210 CTD CTD Direct Evidence: marker/mechanism PMID:32587277 9062988 Lat2 linker for activation of T cells family member 2 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1342914 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 9063009 Zan zonadhesin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1312837 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9063009 Zan zonadhesin gene DOID:630 genetic disease ISO RGD:1312837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063062 Srrm2 serine/arginine repetitive matrix 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1320904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9063062 Srrm2 serine/arginine repetitive matrix 2 gene DOID:14330 Parkinson's disease ISO RGD:1320904 D RGD:9068941 20200609 RGD mRNA:splice variants:substantia nigra, amygdala, peripheral blood mononuclear cell (human) PMID:20161708|REF_RGD_ID:11038728 9063062 Srrm2 serine/arginine repetitive matrix 2 gene DOID:1826 epilepsy ISO RGD:1320904 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9063062 Srrm2 serine/arginine repetitive matrix 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1320904 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9063062 Srrm2 serine/arginine repetitive matrix 2 gene DOID:630 genetic disease ISO RGD:1320904 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063062 Srrm2 serine/arginine repetitive matrix 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320904 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:35567594 9063062 Srrm2 serine/arginine repetitive matrix 2 gene DOID:9006413 Autosomal Dominant Intellectual Developmental Disorder 72 ISO RGD:1320904 D RGD:7240710 20230712 OMIM 9063062 Srrm2 serine/arginine repetitive matrix 2 gene DOID:9006413 Autosomal Dominant Intellectual Developmental Disorder 72 ISO RGD:1320904 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 72 PMID:25741868|PMID:35567594 9063101 Prrt3 proline rich transmembrane protein 3 gene DOID:0112134 severe congenital neutropenia 6 ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:28492532 9063101 Prrt3 proline rich transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1605239 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063101 Prrt3 proline rich transmembrane protein 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9063101 Prrt3 proline rich transmembrane protein 3 gene DOID:9005487 Candidiasis, Familial, 9 ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Candidiasis, familial, 9 PMID:28492532 9063101 Prrt3 proline rich transmembrane protein 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1605239 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:25516202|PMID:28492532 9063130 Pla2g6 phospholipase A2 group VI gene DOID:0050762 adenylosuccinase lyase deficiency ISO RGD:732454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 9063130 Pla2g6 phospholipase A2 group VI gene DOID:0050952 spastic ataxia ISO RGD:732454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 9063130 Pla2g6 phospholipase A2 group VI gene DOID:0060900 Parkinson's disease 14 ISO RGD:732454 D RGD:7240710 20180130 OMIM 9063130 Pla2g6 phospholipase A2 group VI gene DOID:0060900 Parkinson's disease 14 ISO RGD:732454 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 | ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET PMID:16783378|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:20186954|PMID:20301718|PMID:20619503|PMID:20669327|PMID:20886109|PMID:20938027|PMID:21368765|PMID:21700586|PMID:21812034|PMID:22213678|PMID:23182313|PMID:24088041|PMID:24745848|PMID:25326635|PMID:25660576|PMID:25741868|PMID:26001724|PMID:26196026|PMID:26467025|PMID:26633545|PMID:26668131|PMID:2668131|PMID:26755131|PMID:27127721|PMID:27268037|PMID:27378808|PMID:27942883|PMID:28295203|PMID:28492532|PMID:28716262|PMID:29395073|PMID:29472584|PMID:29859652|PMID:29913018|PMID:30065071|PMID:30232368|PMID:30302010|PMID:30340910|PMID:30619057|PMID:32581362|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33279242|PMID:33619735|PMID:34168672|PMID:34272103|PMID:34622992|PMID:35861376 9063130 Pla2g6 phospholipase A2 group VI gene DOID:0070338 cerebellar hypoplasia ISO RGD:732454 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:16783378|PMID:32581362 9063130 Pla2g6 phospholipase A2 group VI gene DOID:0090036 myoclonic dystonia 26 ISO RGD:732454 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9063130 Pla2g6 phospholipase A2 group VI gene DOID:0090056 dystonia 12 ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:missense mutation:p.R632W (human) PMID:19087156|REF_RGD_ID:6482737 9063130 Pla2g6 phospholipase A2 group VI gene DOID:0110734 neurodegeneration with brain iron accumulation ISO RGD:732454 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation PMID:16199547|PMID:16783378|PMID:17033970|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:19087156|PMID:19138334|PMID:19893029|PMID:20301718|PMID:20584031|PMID:20619503|PMID:20669327|PMID:20886109|PMID:20947703|PMID:22213678|PMID:22442204|PMID:22934738|PMID:23685560|PMID:24033266|PMID:24108619|PMID:24130795|PMID:24252552|PMID:24628589|PMID:24745848|PMID:24800972|PMID:24870368|PMID:25164370|PMID:25326635|PMID:25326637|PMID:25558065|PMID:25634434|PMID:25741868|PMID:26196026|PMID:26467025|PMID:26633542|PMID:26668131|PMID:2668131|PMID:26829737|PMID:27081553|PMID:27127721|PMID:27146152|PMID:27196560|PMID:27268037|PMID:27378808|PMID:27395053|PMID:27516098|PMID:27848944|PMID:28150298|PMID:28492532|PMID:28714225|PMID:28716262|PMID:29108286|PMID:29395073|PMID:29454663|PMID:29472584|PMID:29859652|PMID:29915382|PMID:30120687|PMID:30302010|PMID:30340910|PMID:30619057|PMID:31104286|PMID:31493945|PMID:31496990|PMID:31516627|PMID:31689548|PMID:32183746|PMID:32357911|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33050356|PMID:33550528|PMID:33619735|PMID:34168672|PMID:34272103|PMID:34307755|PMID:34520727|PMID:35122944|PMID:35247231|PMID:36790591 9063130 Pla2g6 phospholipase A2 group VI gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732454 D RGD:7240710 20180130 OMIM 9063130 Pla2g6 phospholipase A2 group VI gene DOID:0110735 neurodegeneration with brain iron accumulation 2A ISO RGD:732454 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy 1 | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration PMID:16199547|PMID:16783378|PMID:17033970|PMID:17576681|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:19087156|PMID:19138334|PMID:19893029|PMID:20186954|PMID:20226704|PMID:20301718|PMID:20584031|PMID:20619503|PMID:20669327|PMID:20886109|PMID:20938027|PMID:20947703|PMID:21368765|PMID:21520282|PMID:21700586|PMID:21812034|PMID:22213678|PMID:22442204|PMID:22934738|PMID:23182313|PMID:23685560|PMID:23749988|PMID:24033266|PMID:24088041|PMID:24108619|PMID:24130795|PMID:24252552|PMID:24628589|PMID:24745848|PMID:24870368|PMID:25164370|PMID:25174650|PMID:25294124|PMID:25326635|PMID:25326637|PMID:25348461|PMID:25601130|PMID:25634434|PMID:25640679|PMID:25660576|PMID:25741868|PMID:26001724|PMID:26196026|PMID:26467025|PMID:26539891|PMID:26633542|PMID:26633545|PMID:26668131|PMID:2668131|PMID:26755131|PMID:26829737|PMID:27081553|PMID:27127721|PMID:27146152|PMID:27196560|PMID:27268037|PMID:27294386|PMID:27378808|PMID:27395053|PMID:27516098|PMID:27709683|PMID:27848944|PMID:27882168|PMID:27942883|PMID:28150298|PMID:28295203|PMID:28492532|PMID:28549837|PMID:28714225|PMID:28716262|PMID:28821231|PMID:29108286|PMID:29124790|PMID:29159939|PMID:29395073|PMID:29454663|PMID:29472584|PMID:29859652|PMID:29913018|PMID:29915382|PMID:30042723|PMID:30065071|PMID:30120687|PMID:30169597|PMID:30232368|PMID:30302010|PMID:30340910|PMID:30537300|PMID:30619057|PMID:30772976|PMID:31069529|PMID:31104286|PMID:31493945|PMID:31496990|PMID:31506141|PMID:31516627|PMID:31548400|PMID:31689548|PMID:32005694|PMID:32183746|PMID:32357911|PMID:32404165|PMID:32613234|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33098801|PMID:33279242|PMID:33361639|PMID:33547378|PMID:33550528|PMID:33619735|PMID:34168672|PMID:34272103|PMID:34307755|PMID:34445196|PMID:34520727|PMID:34602496|PMID:34622992|PMID:35032046|PMID:35041927|PMID:35122944|PMID:35247231|PMID:35624904|PMID:35861376|PMID:35911906|PMID:36499697|PMID:36790591|PMID:6783378|PMID:9536098 9063130 Pla2g6 phospholipase A2 group VI gene DOID:0110736 neurodegeneration with brain iron accumulation 2B ISO RGD:732454 D RGD:7240710 20180130 OMIM 9063130 Pla2g6 phospholipase A2 group VI gene DOID:0110736 neurodegeneration with brain iron accumulation 2B ISO RGD:732454 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B PMID:16199547|PMID:16783378|PMID:17033970|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:18981035|PMID:19138334|PMID:20301718|PMID:20584031|PMID:20619503|PMID:20669327|PMID:20886109|PMID:22213678|PMID:22934738|PMID:24130795|PMID:24745848|PMID:24800972|PMID:24870368|PMID:25164370|PMID:25326635|PMID:25741868|PMID:26196026|PMID:26668131|PMID:2668131|PMID:26755131|PMID:27146152|PMID:27196560|PMID:27268037|PMID:27378808|PMID:27516098|PMID:28492532|PMID:28600779|PMID:28716262|PMID:29454663|PMID:29472584|PMID:29859652|PMID:29915382|PMID:30302010|PMID:30340910|PMID:30619057|PMID:30772976|PMID:31493945|PMID:31516627|PMID:31548400|PMID:32581362|PMID:32707456|PMID:32771225|PMID:32860008|PMID:33619735|PMID:34168672|PMID:34272103|PMID:34622992|PMID:35122944|PMID:36790591 9063130 Pla2g6 phospholipase A2 group VI gene DOID:10247 pleurisy ISO RGD:628867 D RGD:9068941 20200609 RGD PMID:15003994|REF_RGD_ID:6482741 9063130 Pla2g6 phospholipase A2 group VI gene DOID:11723 Duchenne muscular dystrophy ISO RGD:732454 D RGD:9068941 20200609 RGD PMID:22934738|REF_RGD_ID:12910703 9063130 Pla2g6 phospholipase A2 group VI gene DOID:11726 Emery-Dreifuss muscular dystrophy ISO RGD:732454 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532 9063130 Pla2g6 phospholipase A2 group VI gene DOID:12849 autistic disorder ISO RGD:732454 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:16783378|PMID:18359254|PMID:18414213|PMID:18799783|PMID:20619503|PMID:20886109|PMID:24745848|PMID:25326635|PMID:25741868|PMID:27378808|PMID:28492532|PMID:28716262|PMID:30340910 9063130 Pla2g6 phospholipase A2 group VI gene DOID:1289 neurodegenerative disease ISO RGD:732455 D RGD:9068941 20200609 RGD PMID:24919816|REF_RGD_ID:12910702 9063130 Pla2g6 phospholipase A2 group VI gene DOID:14330 Parkinson's disease no_association ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:p.P806R (c.2417C>G) (human) PMID:21368765|REF_RGD_ID:6482734 9063130 Pla2g6 phospholipase A2 group VI gene DOID:14330 Parkinson's disease onset ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:missense muations, nonsense mutation: :p.F72L, p.Q452X, p.R635Q (human) PMID:20938027|REF_RGD_ID:6482733 9063130 Pla2g6 phospholipase A2 group VI gene DOID:1826 epilepsy ISO RGD:732454 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Seizure PMID:16783378|PMID:18359254|PMID:18414213|PMID:18799783|PMID:20619503|PMID:20886109|PMID:24745848|PMID:25326635|PMID:25741868|PMID:27378808|PMID:28492532|PMID:28716262|PMID:30340910 9063130 Pla2g6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:deletion:cds:p.V691del (human) PMID:17033970|REF_RGD_ID:6482740 9063130 Pla2g6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732454 D RGD:9068941 20200609 RGD DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple PMID:19138334|REF_RGD_ID:6482736 9063130 Pla2g6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732455 D RGD:9068941 20200609 RGD PMID:18305254|REF_RGD_ID:6482739 9063130 Pla2g6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732455 D RGD:9068941 20200609 RGD DNA:insertion:intron (mouse) PMID:22442204|REF_RGD_ID:6482732 9063130 Pla2g6 phospholipase A2 group VI gene DOID:2367 neuroaxonal dystrophy ISO RGD:732455 D RGD:9068941 20200609 RGD DNA:point mutation:cds PMID:19893029|REF_RGD_ID:6482735 9063130 Pla2g6 phospholipase A2 group VI gene DOID:630 genetic disease ISO RGD:732454 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16783378|PMID:17576681|PMID:18359254|PMID:18414213|PMID:18443314|PMID:18570303|PMID:18799783|PMID:19138334|PMID:19893029|PMID:20301718|PMID:20619503|PMID:20886109|PMID:20947703|PMID:22213678|PMID:22442204|PMID:22934738|PMID:24745848|PMID:25294124|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26668131|PMID:2668131|PMID:27127721|PMID:27378808|PMID:28295203|PMID:28492532|PMID:28716262|PMID:29395073|PMID:29454663|PMID:29472584|PMID:29554876|PMID:29859652|PMID:29915382|PMID:30042723|PMID:30120687|PMID:30169597|PMID:30340910|PMID:30619057|PMID:31493945|PMID:33547378|PMID:33619735|PMID:34168672|PMID:34272103|PMID:34307755|PMID:34445196|PMID:35247231|PMID:9536098 9063130 Pla2g6 phospholipase A2 group VI gene DOID:9000039 Spinal Cord Injuries ISO RGD:732455 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:21868473|REF_RGD_ID:6482718 9063130 Pla2g6 phospholipase A2 group VI gene DOID:9002498 Wallerian Degeneration ISO RGD:732455 D RGD:9068941 20200609 RGD PMID:18718965|REF_RGD_ID:6482738 9063130 Pla2g6 phospholipase A2 group VI gene DOID:9002969 Nevus ISO RGD:732454 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19578365 9063130 Pla2g6 phospholipase A2 group VI gene DOID:9003031 Osteopetrosis and Infantile Neuroaxonal Dystrophy ISO RGD:732454 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Osteopetrosis and infantile neuroaxonal dystrophy PMID:18414213|PMID:18443314|PMID:20301718|PMID:20619503|PMID:24745848|PMID:25741868|PMID:26668131|PMID:2668131|PMID:28492532|PMID:29472584|PMID:30619057|PMID:33619735|PMID:34168672|PMID:34272103 9063130 Pla2g6 phospholipase A2 group VI gene DOID:9004320 Karak Syndrome ISO RGD:732454 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Karak syndrome PMID:16783378|PMID:19087156|PMID:20619503|PMID:20886109|PMID:25741868|PMID:27127721|PMID:27196560|PMID:28492532|PMID:29108286|PMID:30619057|PMID:31496990|PMID:32183746|PMID:33550528|PMID:34520727 9063130 Pla2g6 phospholipase A2 group VI gene DOID:9006534 Nervous System Malformations ISO RGD:732454 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16783378|PMID:18359254|PMID:18414213|PMID:18799783|PMID:20619503|PMID:20886109|PMID:24745848|PMID:25326635|PMID:25741868|PMID:27378808|PMID:28295203|PMID:28492532|PMID:28716262|PMID:30340910|PMID:34622992 9063130 Pla2g6 phospholipase A2 group VI gene DOID:9006646 Metabolic Syndrome ISO RGD:628867 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver PMID:21172452|REF_RGD_ID:6482748 9063163 Pir pirin gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1342511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9063163 Pir pirin gene DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 ISO RGD:1342511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 PMID:24706016|PMID:26545172|PMID:28492532 9063163 Pir pirin gene DOID:12849 autistic disorder ISO RGD:1342511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9063163 Pir pirin gene DOID:13636 Fanconi anemia ISO RGD:1342511 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 9063163 Pir pirin gene DOID:2773 contact dermatitis ISO RGD:1342511 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9063163 Pir pirin gene DOID:4947 cholangiocarcinoma disease_progression ISO RGD:1342511 D RGD:9068941 20220714 RGD mRNA:altered expression:liver (human) PMID:31687280|REF_RGD_ID:152998978 9063163 Pir pirin gene DOID:630 genetic disease ISO RGD:1342511 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063163 Pir pirin gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1342511 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9063186 Cd74 CD74 molecule gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1350471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9063186 Cd74 CD74 molecule gene DOID:3908 lung non-small cell carcinoma ISO RGD:1350471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22919003 9063186 Cd74 CD74 molecule gene DOID:630 genetic disease ISO RGD:1350471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063186 Cd74 CD74 molecule gene DOID:9000918 Disease Progression ISO RGD:1350471 D RGD:9068941 20221006 CTD CTD Direct Evidence: marker/mechanism PMID:34797429 9063186 Cd74 CD74 molecule gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9063186 Cd74 CD74 molecule gene DOID:9004590 Acute Liver Failure ISO RGD:1350471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16799971 9063186 Cd74 CD74 molecule gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1350471 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9063186 Cd74 CD74 molecule gene DOID:9008939 Breast Neoplasms ISO RGD:1350471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19602265 9063202 Pkig cAMP-dependent protein kinase inhibitor gamma gene DOID:2234 focal epilepsy ISO RGD:1350390 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9063202 Pkig cAMP-dependent protein kinase inhibitor gamma gene DOID:630 genetic disease ISO RGD:1350390 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063202 Pkig cAMP-dependent protein kinase inhibitor gamma gene DOID:9000240 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations ISO RGD:1350390 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations PMID:22174160|PMID:28492532 9063230 Cacfd1 calcium channel flower domain containing 1 gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 9063230 Cacfd1 calcium channel flower domain containing 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9063230 Cacfd1 calcium channel flower domain containing 1 gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1322993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9063230 Cacfd1 calcium channel flower domain containing 1 gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 9063230 Cacfd1 calcium channel flower domain containing 1 gene DOID:0081097 Rafiq syndrome ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 9063230 Cacfd1 calcium channel flower domain containing 1 gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1322993 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 9063230 Cacfd1 calcium channel flower domain containing 1 gene DOID:3652 Leigh disease ISO RGD:1322993 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9063230 Cacfd1 calcium channel flower domain containing 1 gene DOID:630 genetic disease ISO RGD:1322993 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:0070015 autosomal recessive dyskeratosis congenita 1 ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1322734 D RGD:7240710 20180130 OMIM 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy ISO RGD:1322734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:12368912|PMID:12838516|PMID:16199547|PMID:1660691|PMID:16606917|PMID:17576681|PMID:17893295|PMID:18414213|PMID:18566107|PMID:20020398|PMID:21628467|PMID:23593405|PMID:24341143|PMID:25525159|PMID:25741868|PMID:26392352|PMID:27717089|PMID:28492532|PMID:30038111|PMID:31439721|PMID:9536098 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:0110317 hypertrophic cardiomyopathy 11 ISO RGD:1322734 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11 PMID:18458017|PMID:27125413|PMID:28492532 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1322734 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:12368912|PMID:12838516|PMID:16199547|PMID:1660691|PMID:16606917|PMID:17893295|PMID:20020398|PMID:21628467|PMID:23593405|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30038111|PMID:31439721 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:2477 motor peripheral neuropathy ISO RGD:1322735 D RGD:9068941 20220825 MouseDO 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:2717 Bloom syndrome ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:574 peripheral nervous system disease ISO RGD:1322734 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:27993330|PMID:28492532|PMID:36542484 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:630 genetic disease ISO RGD:1322734 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12368912|PMID:16606917|PMID:19665974|PMID:24043619|PMID:25741868|PMID:28492532|PMID:28814402|PMID:31439721|PMID:33199848|PMID:33323309|PMID:35733399 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:870 neuropathy ISO RGD:1322734 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy PMID:25741868|PMID:27993330|PMID:28492532|PMID:36542484 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:9000899 Charcot-Marie-Tooth Disease Axonal Type 2II ISO RGD:1322734 D RGD:7240710 20221012 OMIM 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:9000899 Charcot-Marie-Tooth Disease Axonal Type 2II ISO RGD:1322734 D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2II | ClinVar Annotator: match by term: SLC12A6-related condition PMID:12368912|PMID:16606917|PMID:17576681|PMID:18566107|PMID:21628467|PMID:25741868|PMID:27485015|PMID:28492532|PMID:31439721|PMID:33323309|PMID:35733399|PMID:9536098 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:9003133 Hypertelorism ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertelorism PMID:12368912|PMID:16606917|PMID:25741868|PMID:28492532 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:9004373 Autosomal Recessive Dyskeratosis Congenita ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 9063252 Slc12a6 solute carrier family 12 member 6 gene DOID:9256 colorectal cancer ISO RGD:1322734 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9063308 Pign phosphatidylinositol glycan anchor biosynthesis class N gene DOID:0060407 chromosome 18q deletion syndrome ISO RGD:1322753 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:25741868|PMID:31690835 9063308 Pign phosphatidylinositol glycan anchor biosynthesis class N gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1322753 D RGD:7240710 20180130 OMIM 9063308 Pign phosphatidylinositol glycan anchor biosynthesis class N gene DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 ISO RGD:1322753 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 PMID:10677500|PMID:16199547|PMID:17576681|PMID:18606301|PMID:21493957|PMID:22271396|PMID:24033266|PMID:24253414|PMID:24852103|PMID:25640679|PMID:25741868|PMID:25920937|PMID:26364997|PMID:26394714|PMID:26419326|PMID:26467025|PMID:26539891|PMID:26633542|PMID:26879448|PMID:26964041|PMID:27038415|PMID:27290639|PMID:27891564|PMID:28273706|PMID:28327575|PMID:28492532|PMID:29096607|PMID:29330547|PMID:30293990|PMID:30609409|PMID:30660939|PMID:30665423|PMID:31440721|PMID:31628766|PMID:32064623|PMID:32220244|PMID:32860008|PMID:33193741|PMID:33502061|PMID:33619735|PMID:33763700|PMID:34051595|PMID:34426522|PMID:34782754|PMID:34906502|PMID:351792|PMID:35179230|PMID:35322241|PMID:35468813|PMID:35982159|PMID:36322149|PMID:9536098 9063308 Pign phosphatidylinositol glycan anchor biosynthesis class N gene DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome ISO RGD:1322753 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome PMID:16199547|PMID:24033266|PMID:24253414|PMID:25741868|PMID:26364997|PMID:26394714|PMID:27038415|PMID:28492532|PMID:30293990|PMID:30609409 9063308 Pign phosphatidylinositol glycan anchor biosynthesis class N gene DOID:12859 choreatic disease ISO RGD:12180289 D RGD:9068941 20230128 OMIA Dyskinesia, paroxysmal, PIGN-related PMID:15474685|PMID:27891564|PMID:28703446|PMID:33769611|PMID:36086931 9063308 Pign phosphatidylinositol glycan anchor biosynthesis class N gene DOID:1826 epilepsy ISO RGD:1322753 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 9063308 Pign phosphatidylinositol glycan anchor biosynthesis class N gene DOID:3910 lung adenocarcinoma ISO RGD:1322753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9063308 Pign phosphatidylinositol glycan anchor biosynthesis class N gene DOID:4621 holoprosencephaly ISO RGD:1322754 D RGD:9068941 20220825 MouseDO 9063308 Pign phosphatidylinositol glycan anchor biosynthesis class N gene DOID:5419 schizophrenia ISO RGD:1322753 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9063308 Pign phosphatidylinositol glycan anchor biosynthesis class N gene DOID:630 genetic disease ISO RGD:1322753 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24033266|PMID:24253414|PMID:25741868|PMID:26364997|PMID:26394714|PMID:26467025|PMID:26633542|PMID:26879448|PMID:26964041|PMID:27038415|PMID:27290639|PMID:28327575|PMID:28492532|PMID:30293990|PMID:30609409|PMID:30660939|PMID:31440721|PMID:31628766|PMID:32220244|PMID:33619735|PMID:35179230|PMID:35322241|PMID:35468813|PMID:35982159 9063308 Pign phosphatidylinositol glycan anchor biosynthesis class N gene DOID:9006205 Animal Disease Models ISO RGD:1322753 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9063343 Fam222b family with sequence similarity 222 member B gene DOID:630 genetic disease ISO RGD:1603991 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063370 LOC102022061 cytochrome b-c1 complex subunit 6, mitochondrial gene DOID:630 genetic disease ISO RGD:1314343 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063370 LOC102022061 cytochrome b-c1 complex subunit 6, mitochondrial gene DOID:9006123 Mitochondrial Complex III Deficiency Nuclear Type 11 ISO RGD:1314343 D RGD:7240710 20221214 OMIM 9063370 LOC102022061 cytochrome b-c1 complex subunit 6, mitochondrial gene DOID:9006123 Mitochondrial Complex III Deficiency Nuclear Type 11 ISO RGD:1314343 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 11 PMID:34750991 9063378 Bace2 beta-secretase 2 gene DOID:10652 Alzheimer's disease ISO RGD:1350115 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:gyrus: PMID:22074738|REF_RGD_ID:13782172 9063378 Bace2 beta-secretase 2 gene DOID:10652 Alzheimer's disease susceptibility ISO RGD:1350115 D RGD:9068941 20200609 RGD DNA:SNP,haplotype:exon: PMID:16023140|REF_RGD_ID:13782180 9063378 Bace2 beta-secretase 2 gene DOID:12849 autistic disorder ISO RGD:1350115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9063378 Bace2 beta-secretase 2 gene DOID:630 genetic disease ISO RGD:1350115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063378 Bace2 beta-secretase 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1350115 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9063378 Bace2 beta-secretase 2 gene DOID:9255 frontotemporal dementia ISO RGD:1350115 D RGD:9068941 20200609 RGD mRNA,protein, activity:increased expression, increased activity:gyrus: PMID:22074738|REF_RGD_ID:13782172 9063378 Bace2 beta-secretase 2 gene DOID:9352 type 2 diabetes mellitus treatment ISO RGD:1551409 D RGD:9068941 20200609 RGD PMID:28337562|REF_RGD_ID:13782177 9063399 F11r F11 receptor gene DOID:0081242 autoimmune interstitial lung, joint, and kidney disease ISO RGD:1348345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:28492532 9063399 F11r F11 receptor gene DOID:10763 hypertension ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:17420334|REF_RGD_ID:7488939 9063399 F11r F11 receptor gene DOID:10763 hypertension susceptibility ISO RGD:1348345 D RGD:9068941 20200609 RGD DNA:SNPs: :rs790056, rs2774276 (human) PMID:18067551|REF_RGD_ID:7488938 9063399 F11r F11 receptor gene DOID:13976 peptic esophagitis treatment ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:19478094|REF_RGD_ID:7488941 9063399 F11r F11 receptor gene DOID:1540 parathyroid carcinoma ISO RGD:1348345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9063399 F11r F11 receptor gene DOID:1612 breast cancer disease_progression ISO RGD:1348345 D RGD:9068941 20200609 RGD PMID:19533747|REF_RGD_ID:7488915 9063399 F11r F11 receptor gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD mRNA:increased expression:carotid artery PMID:15681301|REF_RGD_ID:7488921 9063399 F11r F11 receptor gene DOID:224 transient cerebral ischemia treatment ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:22868201|REF_RGD_ID:7488943 9063399 F11r F11 receptor gene DOID:2773 contact dermatitis ISO RGD:1553576 D RGD:9068941 20200609 RGD PMID:15343392|REF_RGD_ID:7488917 9063399 F11r F11 receptor gene DOID:418 systemic scleroderma ISO RGD:1348345 D RGD:9068941 20200609 RGD PMID:19153103|REF_RGD_ID:7488918 9063399 F11r F11 receptor gene DOID:630 genetic disease ISO RGD:1348345 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063399 F11r F11 receptor gene DOID:9000403 Animal Mammary Neoplasms ISO RGD:1553576 D RGD:9068941 20200609 RGD PMID:21695058|REF_RGD_ID:7488916 9063399 F11r F11 receptor gene DOID:9000564 Prehypertension ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:17420334|REF_RGD_ID:7488939 9063399 F11r F11 receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1348345 D RGD:9068941 20200609 RGD PMID:22120722|REF_RGD_ID:7488922 9063399 F11r F11 receptor gene DOID:9005372 Inflammation ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:17007822|REF_RGD_ID:7488934 9063399 F11r F11 receptor gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:621842 D RGD:9068941 20200609 RGD PMID:18506084|REF_RGD_ID:7488940 9063399 F11r F11 receptor gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348345 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9063415 Prr5 proline rich 5 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1604351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9063415 Prr5 proline rich 5 gene DOID:1059 intellectual disability ISO RGD:1604351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9063415 Prr5 proline rich 5 gene DOID:630 genetic disease ISO RGD:1604351 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063433 Gcnt4 glucosaminyl (N-acetyl) transferase 4 gene DOID:3323 Sandhoff disease ISO RGD:1602489 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 9063433 Gcnt4 glucosaminyl (N-acetyl) transferase 4 gene DOID:630 genetic disease ISO RGD:1602489 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063433 Gcnt4 glucosaminyl (N-acetyl) transferase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602489 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9063442 Nos3 nitric oxide synthase 3 gene DOID:0050700 cardiomyopathy ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart PMID:17589825|REF_RGD_ID:1642825 9063442 Nos3 nitric oxide synthase 3 gene DOID:0050700 cardiomyopathy susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:repeats:intron: PMID:25699607|REF_RGD_ID:11533642 9063442 Nos3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: p. E298D (human) PMID:18651156|REF_RGD_ID:4892052 9063442 Nos3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea ISO RGD:735618 D RGD:9068941 20200609 RGD associated with heart failure; protein:decreased expression:serum PMID:16806535|REF_RGD_ID:4892059 9063442 Nos3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea ISO RGD:735618 D RGD:9068941 20200609 RGD protein:decreased expression, decreased phosphorylation:endothelial cells PMID:20159829|REF_RGD_ID:4892051 9063442 Nos3 nitric oxide synthase 3 gene DOID:0050848 obstructive sleep apnea severity ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:endothelial cell PMID:18413499|REF_RGD_ID:4891909 9063442 Nos3 nitric oxide synthase 3 gene DOID:0050852 limb ischemia ISO RGD:735618 D RGD:9068941 20200609 RGD human gene in rat model PMID:12171788|REF_RGD_ID:7794776 9063442 Nos3 nitric oxide synthase 3 gene DOID:0050852 limb ischemia treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28979692|REF_RGD_ID:13450931 9063442 Nos3 nitric oxide synthase 3 gene DOID:0050852 limb ischemia treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:19080171|REF_RGD_ID:7794710 9063442 Nos3 nitric oxide synthase 3 gene DOID:0060041 autism spectrum disorder ISO RGD:735618 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9063442 Nos3 nitric oxide synthase 3 gene DOID:0060180 colitis ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression:colon PMID:17947450|REF_RGD_ID:2292124 9063442 Nos3 nitric oxide synthase 3 gene DOID:0060224 atrial fibrillation ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11761419 9063442 Nos3 nitric oxide synthase 3 gene DOID:0060496 respiratory allergy ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism: :c. -786C>T (human) PMID:18086269|REF_RGD_ID:4892054 9063442 Nos3 nitric oxide synthase 3 gene DOID:0080322 polycystic kidney disease ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:kidney: PMID:12675853|REF_RGD_ID:11534000 9063442 Nos3 nitric oxide synthase 3 gene DOID:0080348 Alzheimer's disease 1 ISO RGD:735618 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Alzheimer disease type 1 PMID:25741868 9063442 Nos3 nitric oxide synthase 3 gene DOID:0090101 lethal congenital glycogen storage disease of heart ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart PMID:28492532 9063442 Nos3 nitric oxide synthase 3 gene DOID:10283 prostate cancer disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.E298D (human) PMID:16458450|REF_RGD_ID:2292076 9063442 Nos3 nitric oxide synthase 3 gene DOID:10591 pre-eclampsia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9063442 Nos3 nitric oxide synthase 3 gene DOID:10591 pre-eclampsia treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29250138|REF_RGD_ID:13504712 9063442 Nos3 nitric oxide synthase 3 gene DOID:10652 Alzheimer's disease ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alzheimer disease | ClinVar Annotator: match by term: Alzheimer disease, late-onset, susceptibility to PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 9063442 Nos3 nitric oxide synthase 3 gene DOID:10652 Alzheimer's disease onset ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D (human) PMID:10514107|REF_RGD_ID:1358752 9063442 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:20069064|REF_RGD_ID:7771573 9063442 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-690C>T (human) PMID:9493554|REF_RGD_ID:7771575 9063442 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps, haplotype:promoter, intron:g.-457C>T, g.IVS5+1182G>A (rs11771443, rs3793342) (human) PMID:21245953|REF_RGD_ID:7775039 9063442 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:intron:g.IVS15+1759C>A (rs3918188) (human) PMID:21245953|REF_RGD_ID:7775039 9063442 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps, haplotype:promoter, cds:g.-786T>C, p.E298D (human) PMID:22561696|REF_RGD_ID:7775055 9063442 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD High Tension;DNA:snps:promoter, intron:g.-786T>C, g.IVS15+1759C>A (rs3918188) (human) PMID:19815736|REF_RGD_ID:7771543 9063442 Nos3 nitric oxide synthase 3 gene DOID:1070 primary open angle glaucoma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Hypertension;DNA:snp:promoter:g.-786T>C (rs2070744) (human) PMID:21670344|REF_RGD_ID:7771542 9063442 Nos3 nitric oxide synthase 3 gene DOID:1073 renal hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:20938214|REF_RGD_ID:4891989 9063442 Nos3 nitric oxide synthase 3 gene DOID:10762 portal hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:16142243|REF_RGD_ID:1580269 9063442 Nos3 nitric oxide synthase 3 gene DOID:10762 portal hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta (rat) PMID:10889169|REF_RGD_ID:7794685 9063442 Nos3 nitric oxide synthase 3 gene DOID:10762 portal hypertension ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18070013 9063442 Nos3 nitric oxide synthase 3 gene DOID:10762 portal hypertension treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis, Biliary PMID:29263339|REF_RGD_ID:13504710 9063442 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:11882615|REF_RGD_ID:1580271 9063442 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Pregnancy Complications PMID:18047920|REF_RGD_ID:2292113 9063442 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased phosphorylation:brain PMID:20813549|REF_RGD_ID:4891993 9063442 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11457755|PMID:12947532|PMID:16331104|PMID:19008412|PMID:19407804 9063442 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D (human) PMID:9674630|REF_RGD_ID:1580282 9063442 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication, snp:intron, cds:IVS4?-?+27, p.E298D (human) PMID:10981549|REF_RGD_ID:1580278 9063442 Nos3 nitric oxide synthase 3 gene DOID:10763 hypertension treatment ISO RGD:3186 D RGD:9068941 20230824 RGD PMID:29084084|PMID:29285068|PMID:31489946|REF_RGD_ID:13446414|REF_RGD_ID:13504683|REF_RGD_ID:401793758 9063442 Nos3 nitric oxide synthase 3 gene DOID:10808 gastric ulcer ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19066340 9063442 Nos3 nitric oxide synthase 3 gene DOID:10808 gastric ulcer treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29095895|REF_RGD_ID:13446410 9063442 Nos3 nitric oxide synthase 3 gene DOID:10825 essential hypertension ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential hypertension PMID:25741868 9063442 Nos3 nitric oxide synthase 3 gene DOID:10873 Kuhnt-Junius degeneration susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:c.894G>T (rs1799983) (human) PMID:23276910|REF_RGD_ID:7771558 9063442 Nos3 nitric oxide synthase 3 gene DOID:10923 sickle cell anemia severity ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphisms,haplotype:intron,cds:894G>T, -786T>C(human) PMID:24088668|REF_RGD_ID:11533647 9063442 Nos3 nitric oxide synthase 3 gene DOID:10941 intracranial aneurysm ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:21321533|REF_RGD_ID:5131897 9063442 Nos3 nitric oxide synthase 3 gene DOID:10941 intracranial aneurysm ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:21321533|REF_RGD_ID:5131897 9063442 Nos3 nitric oxide synthase 3 gene DOID:10952 nephritis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :894G>T,-786T>C (human) PMID:22895845|REF_RGD_ID:11533935 9063442 Nos3 nitric oxide synthase 3 gene DOID:11054 urinary bladder cancer ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:10475345|REF_RGD_ID:2292089 9063442 Nos3 nitric oxide synthase 3 gene DOID:11396 pulmonary edema ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:14767587|REF_RGD_ID:5132626 9063442 Nos3 nitric oxide synthase 3 gene DOID:11396 pulmonary edema ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16844920 9063442 Nos3 nitric oxide synthase 3 gene DOID:1168 familial hyperlipidemia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased phosphorylation:aorta PMID:17895290|REF_RGD_ID:2292129 9063442 Nos3 nitric oxide synthase 3 gene DOID:1168 familial hyperlipidemia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11457755 9063442 Nos3 nitric oxide synthase 3 gene DOID:11713 diabetic angiopathy ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea PMID:19241604|REF_RGD_ID:4891384 9063442 Nos3 nitric oxide synthase 3 gene DOID:11713 diabetic angiopathy ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12124201 9063442 Nos3 nitric oxide synthase 3 gene DOID:11713 diabetic angiopathy treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29329611|REF_RGD_ID:13504708 9063442 Nos3 nitric oxide synthase 3 gene DOID:11840 coronary artery vasospasm ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Coronary artery spasm 1, susceptibility to PMID:10359729|PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 9063442 Nos3 nitric oxide synthase 3 gene DOID:12010 anterior ischemic optic neuropathy susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-786T>C (human) PMID:16633797|REF_RGD_ID:7775040 9063442 Nos3 nitric oxide synthase 3 gene DOID:12236 primary biliary cholangitis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 9063442 Nos3 nitric oxide synthase 3 gene DOID:12236 primary biliary cholangitis treatment ISO RGD:3186 D RGD:9068941 20230729 RGD PMID:20132096|REF_RGD_ID:329970291 9063442 Nos3 nitric oxide synthase 3 gene DOID:12336 male infertility ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25517965 9063442 Nos3 nitric oxide synthase 3 gene DOID:1245 vulva cancer disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeat:intron PMID:15196865|REF_RGD_ID:2292078 9063442 Nos3 nitric oxide synthase 3 gene DOID:127 leiomyoma ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:smooth muscle cell PMID:10671823|REF_RGD_ID:2292088 9063442 Nos3 nitric oxide synthase 3 gene DOID:1272 telangiectasis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with radiation treatment of Breast Neoplasms;DNA:polymorphisms PMID:18027873|REF_RGD_ID:2292067 9063442 Nos3 nitric oxide synthase 3 gene DOID:12858 Huntington's disease ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression:striatum (rat) PMID:17850874|REF_RGD_ID:2292130 9063442 Nos3 nitric oxide synthase 3 gene DOID:1287 cardiovascular system disease ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12947532|PMID:20610621 9063442 Nos3 nitric oxide synthase 3 gene DOID:13025 retinopathy of prematurity severity ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:18334945|REF_RGD_ID:7771560 9063442 Nos3 nitric oxide synthase 3 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:10997 D RGD:9068941 20220825 MouseDO OMIM:265380 9063442 Nos3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:g.IVS4?-?+27 (human) PMID:21957880|REF_RGD_ID:7775050 9063442 Nos3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D PMID:16463158|REF_RGD_ID:7771577 9063442 Nos3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) PMID:15705632|REF_RGD_ID:7775048 9063442 Nos3 nitric oxide synthase 3 gene DOID:13241 Behcet's disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D (human) PMID:11908569|REF_RGD_ID:7771576 9063442 Nos3 nitric oxide synthase 3 gene DOID:13550 angle-closure glaucoma ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:20069064|REF_RGD_ID:7771573 9063442 Nos3 nitric oxide synthase 3 gene DOID:13550 angle-closure glaucoma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830) (human) PMID:23422825|REF_RGD_ID:7775046 9063442 Nos3 nitric oxide synthase 3 gene DOID:13580 cholestasis ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:11352814|REF_RGD_ID:7775033 9063442 Nos3 nitric oxide synthase 3 gene DOID:13619 extrahepatic cholestasis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 9063442 Nos3 nitric oxide synthase 3 gene DOID:13948 bladder neck obstruction ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:decreased expression:urinary bladder PMID:21256554|REF_RGD_ID:4891960 9063442 Nos3 nitric oxide synthase 3 gene DOID:14228 oligospermia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29983398 9063442 Nos3 nitric oxide synthase 3 gene DOID:14566 disease of cellular proliferation ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18344980 9063442 Nos3 nitric oxide synthase 3 gene DOID:1459 hypothyroidism ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased activity:ovary (rat) PMID:29214681|REF_RGD_ID:13504721 9063442 Nos3 nitric oxide synthase 3 gene DOID:1485 cystic fibrosis ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon: c. 894G>T (human) PMID:12406848|REF_RGD_ID:4892049 9063442 Nos3 nitric oxide synthase 3 gene DOID:1584 acute chest syndrome susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human) PMID:14687036|REF_RGD_ID:11533934 9063442 Nos3 nitric oxide synthase 3 gene DOID:1584 acute chest syndrome susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:repeats:intron: PMID:25263931|REF_RGD_ID:11533931 9063442 Nos3 nitric oxide synthase 3 gene DOID:1591 renovascular hypertension ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18641695 9063442 Nos3 nitric oxide synthase 3 gene DOID:1612 breast cancer disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphisms PMID:17891484|REF_RGD_ID:2292068 9063442 Nos3 nitric oxide synthase 3 gene DOID:1612 breast cancer no_association ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.E298D (human) PMID:16807677|REF_RGD_ID:2292075 9063442 Nos3 nitric oxide synthase 3 gene DOID:1612 breast cancer susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:promoter:-786T>C (human) PMID:17063466|REF_RGD_ID:2292074 9063442 Nos3 nitric oxide synthase 3 gene DOID:1875 impotence ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Cocaine-Related Disorders;protein:decreased expression:penis PMID:17420087|REF_RGD_ID:2292142 9063442 Nos3 nitric oxide synthase 3 gene DOID:1875 impotence ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression, decreased activity PMID:20807325|REF_RGD_ID:4891999 9063442 Nos3 nitric oxide synthase 3 gene DOID:1875 impotence ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12002441|PMID:17071732 9063442 Nos3 nitric oxide synthase 3 gene DOID:1875 impotence treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29260891|REF_RGD_ID:13504711 9063442 Nos3 nitric oxide synthase 3 gene DOID:1936 atherosclerosis ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:12163452|REF_RGD_ID:7771607 9063442 Nos3 nitric oxide synthase 3 gene DOID:1936 atherosclerosis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:12677255|PMID:20720404 9063442 Nos3 nitric oxide synthase 3 gene DOID:1936 atherosclerosis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:exon:c.894G>T (human) PMID:21114134|REF_RGD_ID:7771564 9063442 Nos3 nitric oxide synthase 3 gene DOID:2018 hyperinsulinism ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:19008412 9063442 Nos3 nitric oxide synthase 3 gene DOID:2074 intestinal perforation ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18030227 9063442 Nos3 nitric oxide synthase 3 gene DOID:224 transient cerebral ischemia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:serum (rat) PMID:29298658|REF_RGD_ID:13503353 9063442 Nos3 nitric oxide synthase 3 gene DOID:224 transient cerebral ischemia treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28944915|PMID:29312485|REF_RGD_ID:13450951|REF_RGD_ID:13503330 9063442 Nos3 nitric oxide synthase 3 gene DOID:2316 brain ischemia ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:17600658|PMID:21212863|REF_RGD_ID:2292134|REF_RGD_ID:4891961 9063442 Nos3 nitric oxide synthase 3 gene DOID:2349 arteriosclerosis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:14736551 9063442 Nos3 nitric oxide synthase 3 gene DOID:2394 ovarian cancer disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeat:intron PMID:12144818|REF_RGD_ID:2298575 9063442 Nos3 nitric oxide synthase 3 gene DOID:2799 bronchiolitis obliterans ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:15136885|REF_RGD_ID:4892068 9063442 Nos3 nitric oxide synthase 3 gene DOID:2841 asthma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphisms:promoter:c. -786C>T, -691C>T (human) PMID:16837812|REF_RGD_ID:4892058 9063442 Nos3 nitric oxide synthase 3 gene DOID:2841 asthma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:16081038|REF_RGD_ID:4892062 9063442 Nos3 nitric oxide synthase 3 gene DOID:2841 asthma susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps, repeat, haplotype:promoter, introns, exons:multiple (human) PMID:18486767|REF_RGD_ID:4892053 9063442 Nos3 nitric oxide synthase 3 gene DOID:2843 long QT syndrome ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:25606385|PMID:28492532 9063442 Nos3 nitric oxide synthase 3 gene DOID:2871 endometrial carcinoma disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:endometrium PMID:9276029|REF_RGD_ID:2292090 9063442 Nos3 nitric oxide synthase 3 gene DOID:299 adenocarcinoma ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 9063442 Nos3 nitric oxide synthase 3 gene DOID:3021 acute kidney failure ISO RGD:3186 D RGD:9068941 20200609 RGD in females;mRNA:increased expression:cortex of kidney (rat) PMID:28947737|REF_RGD_ID:13450947 9063442 Nos3 nitric oxide synthase 3 gene DOID:3021 acute kidney failure ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:9788586 9063442 Nos3 nitric oxide synthase 3 gene DOID:3070 high grade glioma ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel endothelial cell PMID:14672505|REF_RGD_ID:2292080 9063442 Nos3 nitric oxide synthase 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21843929 9063442 Nos3 nitric oxide synthase 3 gene DOID:326 ischemia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15036356 9063442 Nos3 nitric oxide synthase 3 gene DOID:3319 lymphangioleiomyomatosis ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:lung PMID:11306434|REF_RGD_ID:4892080 9063442 Nos3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10510054|PMID:14989558|PMID:17267746|PMID:19696404 9063442 Nos3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:8564837|REF_RGD_ID:7421529 9063442 Nos3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:c.894G>T (human) PMID:16284093|REF_RGD_ID:7771567 9063442 Nos3 nitric oxide synthase 3 gene DOID:3393 coronary artery disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-786T>C (human) PMID:19761682|REF_RGD_ID:7771578 9063442 Nos3 nitric oxide synthase 3 gene DOID:3426 vestibular disease ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18776599 9063442 Nos3 nitric oxide synthase 3 gene DOID:3526 cerebral infarction ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ischemic stroke PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9737779|PMID:9894802 9063442 Nos3 nitric oxide synthase 3 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:pulmonary artery (rat) PMID:29216632|REF_RGD_ID:13504720 9063442 Nos3 nitric oxide synthase 3 gene DOID:4195 hyperglycemia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11696579 9063442 Nos3 nitric oxide synthase 3 gene DOID:4449 macular retinal edema susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) PMID:15333482|REF_RGD_ID:7775044 9063442 Nos3 nitric oxide synthase 3 gene DOID:4676 uremia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19092814 9063442 Nos3 nitric oxide synthase 3 gene DOID:4914 esophagus adenocarcinoma onset ISO RGD:735618 D RGD:9068941 20210521 RGD DNA:SNP:3'utr: (rs2070744) (human) PMID:21472143|REF_RGD_ID:126925218 9063442 Nos3 nitric oxide synthase 3 gene DOID:5082 liver cirrhosis ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased activity:liver (rat) PMID:10535886|REF_RGD_ID:7775034 9063442 Nos3 nitric oxide synthase 3 gene DOID:5082 liver cirrhosis treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:12759254|REF_RGD_ID:7794774 9063442 Nos3 nitric oxide synthase 3 gene DOID:5199 ureteral obstruction ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26207612 9063442 Nos3 nitric oxide synthase 3 gene DOID:5426 primary ovarian insufficiency ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9063442 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:22012955|REF_RGD_ID:7771563 9063442 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:aorta (rat) PMID:28980197|REF_RGD_ID:13450930 9063442 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10510054|PMID:16337503 9063442 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:9068941 20200609 RGD PMID:12362496|REF_RGD_ID:1580283 9063442 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication:intron:IVS4?-?+27 (human) PMID:11903359|REF_RGD_ID:1580284 9063442 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction ISO RGD:735618 D RGD:9068941 20200609 RGD human gene in rat model PMID:17637430|REF_RGD_ID:7771561 9063442 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:10531147|REF_RGD_ID:5128481 9063442 Nos3 nitric oxide synthase 3 gene DOID:5844 myocardial infarction treatment ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:29311930|REF_RGD_ID:13503346 9063442 Nos3 nitric oxide synthase 3 gene DOID:6000 congestive heart failure ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19168511|PMID:20304815 9063442 Nos3 nitric oxide synthase 3 gene DOID:6000 congestive heart failure treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29351461|REF_RGD_ID:13504746 9063442 Nos3 nitric oxide synthase 3 gene DOID:62 aortic valve disease ISO RGD:10997 D RGD:9068941 20220825 MouseDO 9063442 Nos3 nitric oxide synthase 3 gene DOID:630 genetic disease ISO RGD:735618 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063442 Nos3 nitric oxide synthase 3 gene DOID:6364 migraine ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Glaucoma;DNA:snp, haplotype:promoter:g.-786T>C (human) PMID:16123422|REF_RGD_ID:7771539 9063442 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:19487814|REF_RGD_ID:4892039 9063442 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:10997 D RGD:9068941 20200609 RGD RNA:increased expression:lung PMID:11686901|REF_RGD_ID:5132631 9063442 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:17065228|PMID:20215577|REF_RGD_ID:4892038|REF_RGD_ID:4892043 9063442 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:pulmonary endothelial cell PMID:20724942|REF_RGD_ID:4892004 9063442 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21144100 9063442 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:cds:p.E298D (human) PMID:21144100|REF_RGD_ID:4892009 9063442 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD associated with chronic obstructive pulmonary disease; DNA:polymorphism:cds:p.G894T (human) PMID:18953956|REF_RGD_ID:4892042 9063442 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD associated with heart disease; protein:increased expression:endothelial cell PMID:19912632|REF_RGD_ID:5132602 9063442 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:arteriole PMID:21111729|REF_RGD_ID:4892010 9063442 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Beta-Thalassemia;DNA:repeats:intron: PMID:25699607|REF_RGD_ID:11533642 9063442 Nos3 nitric oxide synthase 3 gene DOID:6432 pulmonary hypertension treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29151278|REF_RGD_ID:13504742 9063442 Nos3 nitric oxide synthase 3 gene DOID:654 overnutrition ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:decreased expression:renal artery (rat) PMID:28958692|REF_RGD_ID:13450942 9063442 Nos3 nitric oxide synthase 3 gene DOID:674 cleft palate ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 9063442 Nos3 nitric oxide synthase 3 gene DOID:783 end stage renal disease ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:glomerulus PMID:18089446|REF_RGD_ID:2292109 9063442 Nos3 nitric oxide synthase 3 gene DOID:783 end stage renal disease susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication, snp:intron, cds:g.IVS4?-?+27, p.E298D (human) PMID:12701818|REF_RGD_ID:7777097 9063442 Nos3 nitric oxide synthase 3 gene DOID:784 chronic kidney disease susceptibility ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:decreased expression:cortex of kidney (rat) PMID:29018182|REF_RGD_ID:13450920 9063442 Nos3 nitric oxide synthase 3 gene DOID:784 chronic kidney disease treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29247650|REF_RGD_ID:13504713 9063442 Nos3 nitric oxide synthase 3 gene DOID:8440 ileus treatment ISO RGD:3186 D RGD:9068941 20220421 RGD PMID:30852906|REF_RGD_ID:151893492 9063442 Nos3 nitric oxide synthase 3 gene DOID:8466 retinal degeneration ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:retina (rat) PMID:16209285|REF_RGD_ID:7775035 9063442 Nos3 nitric oxide synthase 3 gene DOID:8466 retinal degeneration treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:16209285|REF_RGD_ID:7775035 9063442 Nos3 nitric oxide synthase 3 gene DOID:850 lung disease ISO RGD:10997 D RGD:9068941 20200609 RGD lung injury associated with hyperoxia PMID:20497690|REF_RGD_ID:4891426 9063442 Nos3 nitric oxide synthase 3 gene DOID:850 lung disease ISO RGD:10997 D RGD:9068941 20200609 RGD ventilator-induced lung injury PMID:20453164|REF_RGD_ID:4892013 9063442 Nos3 nitric oxide synthase 3 gene DOID:850 lung disease ISO RGD:3186 D RGD:9068941 20200609 RGD lung injury associated with reperfusion injury; protein:decreased expression:lung PMID:21056587|REF_RGD_ID:4892011 9063442 Nos3 nitric oxide synthase 3 gene DOID:865 vasculitis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.E298D (human) PMID:14583572|REF_RGD_ID:7775052 9063442 Nos3 nitric oxide synthase 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:23650378 9063442 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina (rat) PMID:23059402|REF_RGD_ID:7771569 9063442 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1;DNA:duplication:intron:IVS4?-?+27 (human) PMID:11918626|REF_RGD_ID:7421532 9063442 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human) PMID:17973941|REF_RGD_ID:7421533 9063442 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy no_association ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) PMID:16581274|PMID:17558849|REF_RGD_ID:7421531|REF_RGD_ID:7775042 9063442 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy no_association ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human) PMID:22017289|REF_RGD_ID:7777101 9063442 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy onset ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snps:promoter, exon:c.-786T>C, c.774C>T (human) PMID:15890549|REF_RGD_ID:7771565 9063442 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy severity ISO RGD:10997 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:20435587|REF_RGD_ID:7771568 9063442 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:snp:exon:c.894G>T (human) PMID:23776381|REF_RGD_ID:7777103 9063442 Nos3 nitric oxide synthase 3 gene DOID:8947 diabetic retinopathy treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18840783|REF_RGD_ID:7771606 9063442 Nos3 nitric oxide synthase 3 gene DOID:900 hepatopulmonary syndrome ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Liver Cirrhosis;protein:increased expression:lung PMID:18081228|REF_RGD_ID:2292110 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000039 Spinal Cord Injuries ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:17287083|REF_RGD_ID:4891407 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000081 Lymphatic Metastasis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:polymorphisms:promoter, exon:-786T>C,p.E298D (human) PMID:17262178|REF_RGD_ID:2292070 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000117 Esophageal Neoplasms ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21472143 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000217 Stomach Neoplasms ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000326 Thrombotic Microangiopathies ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:kidney: PMID:10908153|REF_RGD_ID:11533936 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression:parietal cortex, arteriole (rat) PMID:11273938|REF_RGD_ID:7794687 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000641 Pain ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18079061|REF_RGD_ID:2292111 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000669 Ventricular Dysfunction, Right ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:16820570|REF_RGD_ID:4892044 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:16714207|REF_RGD_ID:4892061 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000772 Bronchial Hyperreactivity ISO RGD:10997 D RGD:9068941 20200609 RGD protein:decreased expression:lung PMID:19286931|REF_RGD_ID:5132864 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:blood vessel endothelial cell PMID:14672505|REF_RGD_ID:2292080 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Breast Neoplasms;DNA:polymorphism:promoter:-786T>C (human) PMID:14623178|REF_RGD_ID:2292081 9063442 Nos3 nitric oxide synthase 3 gene DOID:9000965 Neoplasm Metastasis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Prostatic Neoplasms;DNA:polymorphism PMID:12445681|REF_RGD_ID:2292087 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:3186 D RGD:9068941 20230824 RGD PMID:31489946|REF_RGD_ID:401793758 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001390 Testis Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:testis PMID:18205898|REF_RGD_ID:2292105 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001472 Nasal Polyps ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:nasal mucosa (human) PMID:15942806|REF_RGD_ID:7771559 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001553 Spinal Cord Compression treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29323048|REF_RGD_ID:13504709 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:liver PMID:17918268|REF_RGD_ID:2292126 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:spleen PMID:17481668|REF_RGD_ID:2292140 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18555214 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001650 Pregnancy-Induced Hypertension ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension, pregnancy-induced, susceptibility to PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001708 Hemorrhagic Shock ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:increased expression: :multiple PMID:15854664|REF_RGD_ID:1580937 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29122552|REF_RGD_ID:13450929 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:altered expression:retina (rat) PMID:9950605|REF_RGD_ID:7771570 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001725 Retina Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:retinal vasculature, retinal ganglion cell layer (rat) PMID:12634478|REF_RGD_ID:7775037 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:11496119|REF_RGD_ID:7775036 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001820 Pulmonary Arterial Hypertension treatment ISO RGD:10997 D RGD:9068941 20230608 RGD PMID:23867624|REF_RGD_ID:329848996 9063442 Nos3 nitric oxide synthase 3 gene DOID:9001955 Diabetic Gastroparesis ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA:decreased expression:pyloric antrum (rat) PMID:29071981|REF_RGD_ID:13446417 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28966130|REF_RGD_ID:13450941 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20042665 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies no_association ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) PMID:10741691|REF_RGD_ID:7421534 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human) PMID:10868974|REF_RGD_ID:7421530 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002165 Diabetic Nephropathies treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29336891|REF_RGD_ID:13504726 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3186 D RGD:9068941 20200609 RGD RNA, protein:increased expression:thoracic aorta: PMID:29741931|REF_RGD_ID:13792602 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:3186 D RGD:9068941 20200609 RGD associated with hyperinsulinemia; protein:decreased expression:placenta PMID:19709742|REF_RGD_ID:5132592 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002231 Fetal Growth Retardation ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22421449|PMID:23667712 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12429631|PMID:12445681|PMID:16458450 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002321 Teratozoospermia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29983398 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002371 Cardiotoxicity treatment ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism: :894G>T(human) PMID:26345518|REF_RGD_ID:11533645 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002457 Experimental Arthritis treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29337196|REF_RGD_ID:13504725 9063442 Nos3 nitric oxide synthase 3 gene DOID:9002669 Hypoxia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10956627 9063442 Nos3 nitric oxide synthase 3 gene DOID:9003049 Femur Head Necrosis susceptibility ISO RGD:735618 D RGD:9068941 20231207 RGD associated with Alcohol-Related Disorders;DNA:SNPs,haplotype::rs743506,rs3918184 (human) PMID:28422712|REF_RGD_ID:401901196 9063442 Nos3 nitric oxide synthase 3 gene DOID:9003104 Intracranial Hemorrhages treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29203281|REF_RGD_ID:13504724 9063442 Nos3 nitric oxide synthase 3 gene DOID:9003121 Thromboembolism susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:10531147|REF_RGD_ID:5128481 9063442 Nos3 nitric oxide synthase 3 gene DOID:9003197 Vaso-occlusive Crisis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:repeats:intron: PMID:25263931|REF_RGD_ID:11533931 9063442 Nos3 nitric oxide synthase 3 gene DOID:9003230 Graft Occlusion, Vascular susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:repeats:intron PMID:17365407|REF_RGD_ID:11533930 9063442 Nos3 nitric oxide synthase 3 gene DOID:9003657 Perennial Allergic Rhinitis ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-786T>C (human) PMID:18086269|REF_RGD_ID:4892054 9063442 Nos3 nitric oxide synthase 3 gene DOID:9003817 Sudden Hearing Loss ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:snp:cds:p.E298D (rs1799983) (human) PMID:23560644|REF_RGD_ID:7771541 9063442 Nos3 nitric oxide synthase 3 gene DOID:9003871 Venous Thrombosis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with orthopedic surgery;DNA:SNP::rs1799983(human) PMID:23922896|REF_RGD_ID:11533639 9063442 Nos3 nitric oxide synthase 3 gene DOID:9003936 Cardiomegaly ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:aorta PMID:17487232|REF_RGD_ID:2289120 9063442 Nos3 nitric oxide synthase 3 gene DOID:9003936 Cardiomegaly ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11504159|PMID:12224825|PMID:16844920|PMID:17487232 9063442 Nos3 nitric oxide synthase 3 gene DOID:9003936 Cardiomegaly treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29331788|REF_RGD_ID:13504707 9063442 Nos3 nitric oxide synthase 3 gene DOID:9004009 Reperfusion Injury ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21968084 9063442 Nos3 nitric oxide synthase 3 gene DOID:9004240 Phyllodes Tumor ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:breast PMID:15917410|REF_RGD_ID:2292077 9063442 Nos3 nitric oxide synthase 3 gene DOID:9004250 Hepatic Insufficiency ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 9063442 Nos3 nitric oxide synthase 3 gene DOID:9004283 Transplant Rejection treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29218089|REF_RGD_ID:13504718 9063442 Nos3 nitric oxide synthase 3 gene DOID:9004484 Sepsis ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20035746 9063442 Nos3 nitric oxide synthase 3 gene DOID:9004484 Sepsis ISO RGD:735618 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:17999941|REF_RGD_ID:2292119 9063442 Nos3 nitric oxide synthase 3 gene DOID:9004590 Acute Liver Failure ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:17276928|REF_RGD_ID:2292148 9063442 Nos3 nitric oxide synthase 3 gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:altered expression:cardiac myocyte (rat) PMID:9747440|REF_RGD_ID:7794715 9063442 Nos3 nitric oxide synthase 3 gene DOID:9004756 Brain Hypoxia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:caudate putamen (rat) PMID:14980808|REF_RGD_ID:7794714 9063442 Nos3 nitric oxide synthase 3 gene DOID:9005141 Ventricular Tachycardia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11761419 9063442 Nos3 nitric oxide synthase 3 gene DOID:9005369 Hepatomegaly ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30026087 9063442 Nos3 nitric oxide synthase 3 gene DOID:9005396 Intimal Hyperplasia treatment ISO RGD:735618 D RGD:9068941 20200609 RGD PMID:9576106|REF_RGD_ID:11534002 9063442 Nos3 nitric oxide synthase 3 gene DOID:9005605 Arteriovenous Fistula ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:vena cava PMID:17344190|REF_RGD_ID:2292146 9063442 Nos3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:10997 D RGD:9068941 20200609 RGD protein:decreased expression:thoracic aorta (mouse) PMID:21050844|REF_RGD_ID:7777108 9063442 Nos3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18825362|REF_RGD_ID:4892007 9063442 Nos3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:heart PMID:18287592|REF_RGD_ID:2292100 9063442 Nos3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11696579|PMID:14871415|PMID:15490108|PMID:16959961|PMID:18266981|PMID:19478208|PMID:22191573|PMID:22933112 9063442 Nos3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:21050844|REF_RGD_ID:7777108 9063442 Nos3 nitric oxide synthase 3 gene DOID:9005643 Experimental Diabetes Mellitus treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28976888|REF_RGD_ID:13450939 9063442 Nos3 nitric oxide synthase 3 gene DOID:9005930 Endotoxemia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:increased expression:aorta (rat) PMID:10462376|REF_RGD_ID:7794732 9063442 Nos3 nitric oxide synthase 3 gene DOID:9006102 Right Ventricular Hypertrophy treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Hypertension, Pulmonary PMID:22022327|REF_RGD_ID:7794708 9063442 Nos3 nitric oxide synthase 3 gene DOID:9006166 Pulmonary Hypertension, Hypoxia-Induced ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:pulmonary artery PMID:9950873|REF_RGD_ID:11533933 9063442 Nos3 nitric oxide synthase 3 gene DOID:9006182 Carotid Artery Injuries treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29207649|REF_RGD_ID:13504723 9063442 Nos3 nitric oxide synthase 3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20230727 RGD PMID:18408363|PMID:29291552|REF_RGD_ID:11040540|REF_RGD_ID:13504682 9063442 Nos3 nitric oxide synthase 3 gene DOID:9006599 Hypertriglyceridemia ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:aorta PMID:17824809|REF_RGD_ID:2292131 9063442 Nos3 nitric oxide synthase 3 gene DOID:9006646 Metabolic Syndrome ISO RGD:735618 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic syndrome, susceptibility to PMID:28361419 9063442 Nos3 nitric oxide synthase 3 gene DOID:9006646 Metabolic Syndrome treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28967023|REF_RGD_ID:13461762 9063442 Nos3 nitric oxide synthase 3 gene DOID:9006738 Hypertension Resistant to Conventional Therapy ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertension resistant to conventional therapy PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 9063442 Nos3 nitric oxide synthase 3 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:10997 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:25382268|REF_RGD_ID:11533932 9063442 Nos3 nitric oxide synthase 3 gene DOID:9006827 Lung Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:20815765|REF_RGD_ID:4892012 9063442 Nos3 nitric oxide synthase 3 gene DOID:9006945 Diabetic Cardiomyopathies treatment ISO RGD:3186 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:29274332|REF_RGD_ID:13504685 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007033 Ventricular Premature Complexes ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:11761419 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007096 Stroke ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18234158|REF_RGD_ID:2292103 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007096 Stroke susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with Anemia, Sickle Cell;DNA:repeats:intron: PMID:25263931|REF_RGD_ID:11533931 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007096 Stroke treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29152647|REF_RGD_ID:13504814 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007102 Myocardial Ischemia ISO RGD:735618 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ischemic heart disease, susceptibility to PMID:10475066|PMID:10510054|PMID:10514107|PMID:11026457|PMID:11354626|PMID:11394896|PMID:11745998|PMID:15007011|PMID:16059745|PMID:16813604|PMID:17165044|PMID:24033266|PMID:25741868|PMID:9737779|PMID:9894802 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007102 Myocardial Ischemia susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:duplication, snp:intron, cds:g.IVS4?-?+27, p.E298D (human) PMID:15007011|REF_RGD_ID:7777100 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007370 Child Behavior Disorders susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated withPrecursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymprphism,haplotype: :-786T>C(human) PMID:23612386|REF_RGD_ID:11533937 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007480 Hyperoxia ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:17937862|REF_RGD_ID:2292125 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007692 Insulin Resistance ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:serum PMID:18298918|REF_RGD_ID:2292098 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007692 Insulin Resistance ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11457755|PMID:12716763|PMID:12947532|PMID:19008412 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007692 Insulin Resistance treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:28946194|REF_RGD_ID:13450950 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007755 Intestinal Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:16610051|REF_RGD_ID:7777112 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18390819|PMID:20828747|REF_RGD_ID:2292091|REF_RGD_ID:4891991 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12354446 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29274587|PMID:29299201|REF_RGD_ID:13503347|REF_RGD_ID:13504684 9063442 Nos3 nitric oxide synthase 3 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:15703700|REF_RGD_ID:13824977 9063442 Nos3 nitric oxide synthase 3 gene DOID:9008604 Radiation Pneumonitis susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD associated with carcinoma, non-small-cell lung;DNA:SNP:cds:c.894G>T rs1799983 (human) PMID:20811626|REF_RGD_ID:5131286 9063442 Nos3 nitric oxide synthase 3 gene DOID:9008939 Breast Neoplasms ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15375496|PMID:19671875 9063442 Nos3 nitric oxide synthase 3 gene DOID:9009039 Hyperemia ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:SNP: :894G>T (human) PMID:11668050|REF_RGD_ID:7777102 9063442 Nos3 nitric oxide synthase 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:decreased expression:lung PMID:7576705|REF_RGD_ID:5132862 9063442 Nos3 nitric oxide synthase 3 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7576705|PMID:8863223 9063442 Nos3 nitric oxide synthase 3 gene DOID:9009107 Drug-Induced Enteropathy treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29064425|REF_RGD_ID:13450913 9063442 Nos3 nitric oxide synthase 3 gene DOID:9119 acute myeloid leukemia disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphgism: : 894 G>T(human) PMID:24684492|REF_RGD_ID:11533640 9063442 Nos3 nitric oxide synthase 3 gene DOID:9220 central sleep apnea ISO RGD:735618 D RGD:9068941 20200609 RGD associated with heart failure; protein:decreased expression:serum PMID:16806535|REF_RGD_ID:4892059 9063442 Nos3 nitric oxide synthase 3 gene DOID:9296 cleft lip ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21254359 9063442 Nos3 nitric oxide synthase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:18356581|REF_RGD_ID:2292097 9063442 Nos3 nitric oxide synthase 3 gene DOID:9352 type 2 diabetes mellitus ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12716763|PMID:16959961 9063442 Nos3 nitric oxide synthase 3 gene DOID:9477 pulmonary embolism ISO RGD:3186 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:lung PMID:17219957|REF_RGD_ID:2292151 9063442 Nos3 nitric oxide synthase 3 gene DOID:9498 pulmonary eosinophilia ISO RGD:10997 D RGD:9068941 20200609 RGD PMID:16714207|REF_RGD_ID:4892061 9063442 Nos3 nitric oxide synthase 3 gene DOID:9667 placental abruption ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11354626 9063442 Nos3 nitric oxide synthase 3 gene DOID:9675 pulmonary emphysema ISO RGD:10997 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:lung PMID:20956973|REF_RGD_ID:4891415 9063442 Nos3 nitric oxide synthase 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:735618 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21666113 9063442 Nos3 nitric oxide synthase 3 gene DOID:9778 irritable bowel syndrome ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:23691109|REF_RGD_ID:7771566 9063442 Nos3 nitric oxide synthase 3 gene DOID:9952 acute lymphoblastic leukemia disease_progression ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human) PMID:20510681|REF_RGD_ID:11533646 9063442 Nos3 nitric oxide synthase 3 gene DOID:9952 acute lymphoblastic leukemia susceptibility ISO RGD:735618 D RGD:9068941 20200609 RGD DNA:SNP: :rs3918186(human) PMID:23922896|REF_RGD_ID:11533639 9063442 Nos3 nitric oxide synthase 3 gene DOID:9970 obesity ISO RGD:3186 D RGD:9068941 20200609 RGD protein:decreased expression:artery PMID:17623751|REF_RGD_ID:2292133 9063442 Nos3 nitric oxide synthase 3 gene DOID:9970 obesity treatment ISO RGD:3186 D RGD:9068941 20200609 RGD PMID:29180887|REF_RGD_ID:13504728 9063476 Glcci1 glucocorticoid induced 1 gene DOID:630 genetic disease ISO RGD:1347258 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063495 Pdlim7 PDZ and LIM domain 7 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1606830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 9063495 Pdlim7 PDZ and LIM domain 7 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1606830 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9063495 Pdlim7 PDZ and LIM domain 7 gene DOID:14748 Sotos syndrome ISO RGD:1606830 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 9063495 Pdlim7 PDZ and LIM domain 7 gene DOID:630 genetic disease ISO RGD:1606830 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063495 Pdlim7 PDZ and LIM domain 7 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1606830 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9063518 Rft1 RFT1 homolog gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1342907 D RGD:7240710 20180130 OMIM 9063518 Rft1 RFT1 homolog gene DOID:0080566 congenital disorder of glycosylation In ISO RGD:1342907 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CDG In | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:16199547|PMID:17576681|PMID:18313027|PMID:19267216|PMID:19701946|PMID:19856127|PMID:23111317|PMID:25741868|PMID:26892341|PMID:27172925|PMID:28492532|PMID:28940097|PMID:28940310|PMID:29923091|PMID:30071302|PMID:30653653|PMID:31231135|PMID:33023636|PMID:9536098 9063518 Rft1 RFT1 homolog gene DOID:0110119 autoimmune lymphoproliferative syndrome type 3 ISO RGD:1342907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III PMID:11976687|PMID:23319571|PMID:23430113|PMID:28492532 9063518 Rft1 RFT1 homolog gene DOID:1909 melanoma ISO RGD:1342907 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant melanoma PMID:28492532 9063518 Rft1 RFT1 homolog gene DOID:5212 congenital disorder of glycosylation ISO RGD:1342907 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation 9063518 Rft1 RFT1 homolog gene DOID:630 genetic disease ISO RGD:1342907 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26892341|PMID:28492532|PMID:31231135|PMID:33023636 9063563 Rag1 recombination activating 1 gene DOID:0060010 Omenn syndrome ISO RGD:1317876 D RGD:7240710 20180130 OMIM 9063563 Rag1 recombination activating 1 gene DOID:0060010 Omenn syndrome ISO RGD:1317876 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia PMID:10606976|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18442948|PMID:18822103|PMID:19011808|PMID:19178939|PMID:19830075|PMID:20109747|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25976673|PMID:26457731|PMID:26596586|PMID:2682973|PMID:27301863|PMID:28083621|PMID:28109013|PMID:28492532|PMID:28769923|PMID:28783691|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31503426|PMID:32000930|PMID:32447396|PMID:32655540|PMID:33193364|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:0060011 recombinase activating gene 1 deficiency ISO RGD:1317876 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Recombinase activating gene 1 deficiency PMID:10891452|PMID:11121059|PMID:11133745|PMID:11313270|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25976673|PMID:26186701|PMID:26457731|PMID:26596586|PMID:27301863|PMID:28083621|PMID:28492532|PMID:28769923|PMID:30307608|PMID:31980526|PMID:32445296|PMID:33193364|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:0080915 histiocytic sarcoma ISO RGD:1317876 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:10606976|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15908971|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18442948|PMID:18822103|PMID:19011808|PMID:19178939|PMID:19830075|PMID:20109747|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26186701|PMID:26457731|PMID:26596586|PMID:2682973|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28109013|PMID:28492532|PMID:28769923|PMID:28783691|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31503426|PMID:31980526|PMID:32000930|PMID:32447396|PMID:32655540|PMID:33193364|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:7240710 20180130 OMIM 9063563 Rag1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:10891452|PMID:11133745|PMID:11313270|PMID:11520796|PMID:16276422|PMID:16960852|PMID:17572155|PMID:18701881|PMID:19178939|PMID:19458910|PMID:19912631|PMID:20956421|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28492532|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:31503426|PMID:32447396|PMID:8810255|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:16276422|PMID:16960852|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:31503426|PMID:32447396|PMID:8810255|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:19011808|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30877075|PMID:31503426|PMID:32445296|PMID:32447396|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:1317876 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive PMID:10606976|PMID:10701853|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15696198|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18223550|PMID:18442948|PMID:18463379|PMID:18592361|PMID:18701881|PMID:18768869|PMID:18822103|PMID:19011808|PMID:19064334|PMID:19178939|PMID:19246248|PMID:19458910|PMID:19830075|PMID:19912631|PMID:20109747|PMID:20489056|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:23891352|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24472623|PMID:24985406|PMID:25516070|PMID:25707801|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26689875|PMID:2682973|PMID:26829731|PMID:27095930|PMID:27301863|PMID:27484032|PMID:27609655|PMID:27713031|PMID:2808362|PMID:28083621|PMID:28109013|PMID:28216420|PMID:28492532|PMID:28623282|PMID:28747913|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31503426|PMID:31632441|PMID:32000930|PMID:32373116|PMID:32445296|PMID:32447396|PMID:32655540|PMID:32670274|PMID:32888943|PMID:33193364|PMID:33365035|PMID:33628209|PMID:34224223|PMID:34664192|PMID:35281013|PMID:35303369|PMID:8810255|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:0110269 cataract 3 multiple types ISO RGD:1317876 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cataract 3 multiple types PMID:25741868 9063563 Rag1 recombination activating 1 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1317876 D RGD:7240710 20180130 OMIM 9063563 Rag1 recombination activating 1 gene DOID:0112253 combined cellular and humoral immune defects with granulomas ISO RGD:1317876 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:10606976|PMID:10701853|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15696198|PMID:15908971|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18223550|PMID:18442948|PMID:18463379|PMID:18592361|PMID:18701881|PMID:18768869|PMID:18822103|PMID:19011808|PMID:19064334|PMID:19178939|PMID:19246248|PMID:19458910|PMID:19830075|PMID:19912631|PMID:20109747|PMID:20489056|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21624848|PMID:21625022|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:23891352|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24331380|PMID:24406074|PMID:24418478|PMID:24472623|PMID:24817258|PMID:24985406|PMID:25104208|PMID:25516070|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26689875|PMID:2682973|PMID:26829731|PMID:27095930|PMID:27301863|PMID:27484032|PMID:27609655|PMID:27713031|PMID:2808362|PMID:28083621|PMID:28109013|PMID:28216420|PMID:28492532|PMID:28623282|PMID:28747913|PMID:28769923|PMID:28783691|PMID:28864286|PMID:290284|PMID:29104089|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31130284|PMID:31313695|PMID:31503426|PMID:31632441|PMID:31980526|PMID:32000930|PMID:32373116|PMID:32445296|PMID:32447396|PMID:32633164|PMID:32655540|PMID:32670274|PMID:32888943|PMID:33117328|PMID:33193364|PMID:33365035|PMID:33628209|PMID:33954879|PMID:34224223|PMID:34664192|PMID:35281013|PMID:35303369|PMID:35902638|PMID:8810255|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:1059 intellectual disability ISO RGD:1317876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9063563 Rag1 recombination activating 1 gene DOID:10763 hypertension ISO RGD:619790 D RGD:9068941 20200609 RGD PMID:23364523|REF_RGD_ID:7207429 9063563 Rag1 recombination activating 1 gene DOID:10907 microcephaly ISO RGD:1317876 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:25741868 9063563 Rag1 recombination activating 1 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317876 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:17572155|PMID:17890453|PMID:19178939|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317876 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:12200379|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18822103|PMID:19178939|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26829731|PMID:27301863|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:30778343|PMID:30877075|PMID:33365035|PMID:33628209|PMID:34224223|PMID:34664192|PMID:35303369|PMID:8810255|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:5810 adenosine deaminase deficiency ISO RGD:1317876 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bubble boy disease PMID:10635319|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18463379|PMID:18768869|PMID:18822103|PMID:19064334|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:23891352|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25869295|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26829731|PMID:27301863|PMID:27484032|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30877075|PMID:31632441|PMID:32445296|PMID:32655540|PMID:32888943|PMID:33365035|PMID:33628209|PMID:34224223|PMID:34664192|PMID:35281013|PMID:35303369|PMID:8810255|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:612 primary immunodeficiency disease ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases PMID:17572155|PMID:25741868|PMID:28109013|PMID:28492532|PMID:30290665|PMID:30858051|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:627 severe combined immunodeficiency ISO RGD:1317876 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:10635319|PMID:10701853|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18463379|PMID:18768869|PMID:18822103|PMID:19064334|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:23891352|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25869295|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26829731|PMID:27301863|PMID:27484032|PMID:27609655|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30877075|PMID:31632441|PMID:31980526|PMID:32445296|PMID:32655540|PMID:32888943|PMID:33193364|PMID:33365035|PMID:33628209|PMID:34224223|PMID:34664192|PMID:35281013|PMID:35303369|PMID:8810255|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:630 genetic disease ISO RGD:1317876 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9063563 Rag1 recombination activating 1 gene DOID:9000795 Immunodeficiency 104 ISO RGD:1317876 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:24033266|PMID:25741868|PMID:28492532 9063563 Rag1 recombination activating 1 gene DOID:9001542 Albuminuria ISO RGD:619790 D RGD:9068941 20201211 RGD PMID:23364523|REF_RGD_ID:7207429 9063563 Rag1 recombination activating 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1317876 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29610475 9063563 Rag1 recombination activating 1 gene DOID:9003234 Hypertensive Nephropathy ISO RGD:619790 D RGD:9068941 20200609 RGD PMID:23364523|REF_RGD_ID:7207429 9063563 Rag1 recombination activating 1 gene DOID:9003234 Hypertensive Nephropathy ameliorates ISO RGD:619790 D RGD:9068941 20210212 RGD PMID:23364523|REF_RGD_ID:7207429 9063563 Rag1 recombination activating 1 gene DOID:9004654 Immune Deficiency Disease ISO RGD:619790 D RGD:9068941 20200609 RGD PMID:29688994|REF_RGD_ID:13628403 9063563 Rag1 recombination activating 1 gene DOID:9005774 Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity ISO RGD:1317876 D RGD:7240710 20180130 OMIM 9063563 Rag1 recombination activating 1 gene DOID:9005774 Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity ISO RGD:1317876 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity PMID:10606976|PMID:10635319|PMID:10701853|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15696198|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18223550|PMID:18442948|PMID:18463379|PMID:18592361|PMID:18701881|PMID:18768869|PMID:18822103|PMID:19011808|PMID:19064334|PMID:19178939|PMID:19246248|PMID:19458910|PMID:19830075|PMID:19912631|PMID:20109747|PMID:20489056|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:23891352|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24472623|PMID:24985406|PMID:25516070|PMID:25707801|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26689875|PMID:2682973|PMID:26829731|PMID:27095930|PMID:27301863|PMID:27484032|PMID:27713031|PMID:2808362|PMID:28083621|PMID:28109013|PMID:28216420|PMID:28492532|PMID:28623282|PMID:28747913|PMID:28769923|PMID:28783691|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31503426|PMID:31632441|PMID:32000930|PMID:32373116|PMID:32445296|PMID:32447396|PMID:32655540|PMID:32670274|PMID:32888943|PMID:33193364|PMID:33365035|PMID:33628209|PMID:34224223|PMID:34664192|PMID:35281013|PMID:35303369|PMID:8810255|PMID:9630231 9063563 Rag1 recombination activating 1 gene DOID:9562 primary ciliary dyskinesia ISO RGD:1317876 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 9063569 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ISO RGD:1350548 D RGD:7240710 20180130 OMIM 9063569 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia ISO RGD:1350548 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia PMID:23643382|PMID:25741868|PMID:28492532 9063569 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:13938 amenorrhea ISO RGD:1350548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 9063569 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:1923 disorder of sexual development ISO RGD:1350548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation 9063569 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:630 genetic disease ISO RGD:1350548 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063569 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:9002189 High Myopia ISO RGD:1350548 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 9063569 Flrt3 fibronectin leucine rich transmembrane protein 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1350548 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9063594 Septin7 septin 7 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604654 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9063594 Septin7 septin 7 gene DOID:630 genetic disease ISO RGD:1604654 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063634 Fbxo39 F-box protein 39 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9063634 Fbxo39 F-box protein 39 gene DOID:0080453 developmental and epileptic encephalopathy 25 ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 PMID:28492532 9063634 Fbxo39 F-box protein 39 gene DOID:0110681 congenital myasthenic syndrome 2A ISO RGD:1322937 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A PMID:28492532 9063634 Fbxo39 F-box protein 39 gene DOID:12177 common variable immunodeficiency ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9063634 Fbxo39 F-box protein 39 gene DOID:2729 dyskeratosis congenita ISO RGD:1322937 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:28492532 9063634 Fbxo39 F-box protein 39 gene DOID:630 genetic disease ISO RGD:1322937 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063657 Fads3 fatty acid desaturase 3 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1352711 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9063657 Fads3 fatty acid desaturase 3 gene DOID:1059 intellectual disability ISO RGD:1352711 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9063657 Fads3 fatty acid desaturase 3 gene DOID:630 genetic disease ISO RGD:1352711 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063702 Sulf2 sulfatase 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1312895 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9063702 Sulf2 sulfatase 2 gene DOID:2234 focal epilepsy ISO RGD:1312895 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Focal-onset seizure PMID:32581362 9063702 Sulf2 sulfatase 2 gene DOID:289 endometriosis ISO RGD:1312895 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864642|PMID:21063030 9063702 Sulf2 sulfatase 2 gene DOID:630 genetic disease ISO RGD:1312895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063727 Zic3 Zic family member 3 gene DOID:0050545 visceral heterotaxy ISO RGD:1557273 D RGD:9068941 20220825 MouseDO OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 9063727 Zic3 Zic family member 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9063727 Zic3 Zic family member 3 gene DOID:0060825 Christianson syndrome ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 9063727 Zic3 Zic family member 3 gene DOID:0080006 bone development disease ISO RGD:1347201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 9063727 Zic3 Zic family member 3 gene DOID:0111766 X-linked VACTERL association ISO RGD:1347201 D RGD:7240710 20180130 OMIM 9063727 Zic3 Zic family member 3 gene DOID:0111766 X-linked VACTERL association ISO RGD:1347201 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus PMID:10980576|PMID:14681828|PMID:17764085|PMID:23427188|PMID:24033266|PMID:24123890|PMID:25741868|PMID:2629409|PMID:26294094|PMID:28492532|PMID:32753700 9063727 Zic3 Zic family member 3 gene DOID:12849 autistic disorder ISO RGD:1347201 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9063727 Zic3 Zic family member 3 gene DOID:2907 Goldenhar syndrome ISO RGD:1557273 D RGD:9068941 20220825 MouseDO OMIM:164210 9063727 Zic3 Zic family member 3 gene DOID:630 genetic disease ISO RGD:1347201 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9063727 Zic3 Zic family member 3 gene DOID:6620 X-linked hyper IgM syndrome ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 PMID:15319456|PMID:15358621|PMID:16019685|PMID:18342287|PMID:21465648|PMID:24123890|PMID:28492532 9063727 Zic3 Zic family member 3 gene DOID:758 situs inversus ISO RGD:1347201 D RGD:9068941 20200609 RGD X-linked visceral heterotaxy, OMIM:306955 PMID:9354794|REF_RGD_ID:1599909 9063727 Zic3 Zic family member 3 gene DOID:9002682 Cardiovascular Abnormalities ISO RGD:1347201 D RGD:9068941 20200609 RGD X-linked visceral heterotaxy, OMIM:306955 PMID:9354794|REF_RGD_ID:1599909 9063727 Zic3 Zic family member 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1347201 D RGD:7240710 20180130 OMIM 9063727 Zic3 Zic family member 3 gene DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked ISO RGD:1347201 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:10980576|PMID:14681828|PMID:15319456|PMID:15358621|PMID:16019685|PMID:17295247|PMID:17764085|PMID:18342287|PMID:18716025|PMID:21465648|PMID:23427188|PMID:23872418|PMID:24033266|PMID:24123890|PMID:25741868|PMID:26014430|PMID:2629409|PMID:26294094|PMID:27406248|PMID:28492532|PMID:30622330|PMID:32753700|PMID:3674105|PMID:9354794 9063727 Zic3 Zic family member 3 gene DOID:9008310 Preaxial Polydactyly IV ISO RGD:1314554 D RGD:9068941 20200609 RGD PMID:22234993|REF_RGD_ID:12738220 9063727 Zic3 Zic family member 3 gene DOID:9008731 Craniofacial Abnormalities ISO RGD:1347201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 9063727 Zic3 Zic family member 3 gene DOID:9008797 Facial Asymmetry ISO RGD:1347201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 9063727 Zic3 Zic family member 3 gene DOID:9565 dextrocardia ISO RGD:1347201 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17127413 9063739 Eif3j eukaryotic translation initiation factor 3 subunit J gene DOID:0110764 hereditary spastic paraplegia 11 ISO RGD:1317118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 9063739 Eif3j eukaryotic translation initiation factor 3 subunit J gene DOID:2476 hereditary spastic paraplegia ISO RGD:1317118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic Paraplegia, Recessive 9063739 Eif3j eukaryotic translation initiation factor 3 subunit J gene DOID:2717 Bloom syndrome ISO RGD:1317118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9063739 Eif3j eukaryotic translation initiation factor 3 subunit J gene DOID:630 genetic disease ISO RGD:1317118 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063739 Eif3j eukaryotic translation initiation factor 3 subunit J gene DOID:9256 colorectal cancer ISO RGD:1317118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9063749 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:0110604 primary ciliary dyskinesia 18 ISO RGD:1351287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 PMID:25741868|PMID:28492532|PMID:29363216 9063749 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:10763 hypertension ISO RGD:11140 D RGD:9068941 20200609 RGD PMID:11161799|REF_RGD_ID:619653 9063749 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:630 genetic disease ISO RGD:1351287 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9063749 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9000495 Tremor ISO RGD:3392 D RGD:9068941 20211022 RGD PMID:33479380|REF_RGD_ID:150519900 9063749 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9003241 MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME ISO RGD:1351287 D RGD:7240710 20220209 OMIM 9063749 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9003241 MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME ISO RGD:1351287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marbach-Schaaf neurodevelopmental syndrome PMID:25741868|PMID:33833410 9063749 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351287 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PRKAR1B-related neurodevelopmental disorder PMID:25741868|PMID:33833410 9063749 Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta gene DOID:9562 primary ciliary dyskinesia ISO RGD:1351287 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532 9063771 Cryl1 crystallin lambda 1 gene DOID:0050563 nonsyndromic deafness ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:11807148|PMID:12917317|PMID:14571368|PMID:14681039|PMID:15994881|PMID:19047647|PMID:22098503|PMID:23303923|PMID:24158611|PMID:28823936|PMID:30311386 9063771 Cryl1 crystallin lambda 1 gene DOID:0110253 cataract 14 multiple types ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cataract 14 multiple types PMID:28492532 9063771 Cryl1 crystallin lambda 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:735568 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:15994881|PMID:17041943|PMID:18324688|PMID:20236118|PMID:28492532 9063771 Cryl1 crystallin lambda 1 gene DOID:0110475 autosomal recessive nonsyndromic deafness 1A ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 PMID:11807148|PMID:12172394|PMID:12885339|PMID:14571368|PMID:15638823|PMID:15994881|PMID:17041943|PMID:18324688|PMID:20236118|PMID:27480936|PMID:28492532 9063771 Cryl1 crystallin lambda 1 gene DOID:0110476 autosomal recessive nonsyndromic deafness 1B ISO RGD:735568 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:11807148|PMID:12172394|PMID:12885339|PMID:14571368|PMID:15638823|PMID:15994881|PMID:17041943|PMID:18324688|PMID:25741868|PMID:27480936|PMID:28492532 9063771 Cryl1 crystallin lambda 1 gene DOID:0110565 autosomal dominant nonsyndromic deafness 3B ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3b PMID:27480936|PMID:28492532 9063771 Cryl1 crystallin lambda 1 gene DOID:14693 Clouston syndrome ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:27480936|PMID:28492532 9063771 Cryl1 crystallin lambda 1 gene DOID:2121 ectodermal dysplasia ISO RGD:735568 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:27480936|PMID:28492532 9063771 Cryl1 crystallin lambda 1 gene DOID:630 genetic disease ISO RGD:735568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063771 Cryl1 crystallin lambda 1 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806098 9063771 Cryl1 crystallin lambda 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9063783 Dnttip2 deoxynucleotidyltransferase terminal interacting protein 2 gene DOID:630 genetic disease ISO RGD:1604625 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063794 Wdr49 WD repeat domain 49 gene DOID:10283 prostate cancer ISO RGD:1354020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9063794 Wdr49 WD repeat domain 49 gene DOID:630 genetic disease ISO RGD:1354020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063822 Itpkb inositol-trisphosphate 3-kinase B gene DOID:1540 parathyroid carcinoma ISO RGD:1345915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9063822 Itpkb inositol-trisphosphate 3-kinase B gene DOID:2226 myeloproliferative neoplasm ISO RGD:1345915 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable PMID:25741868|PMID:35101336 9063822 Itpkb inositol-trisphosphate 3-kinase B gene DOID:630 genetic disease ISO RGD:1345915 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063822 Itpkb inositol-trisphosphate 3-kinase B gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1345915 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9063833 Umod uromodulin gene DOID:0060062 familial juvenile hyperuricemic nephropathy ISO RGD:737075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease PMID:20172860|PMID:21868615|PMID:23748428|PMID:25741868|PMID:28492532|PMID:28781372|PMID:29204651|PMID:30773290|PMID:31068150|PMID:31509055|PMID:31822006|PMID:32274456|PMID:32450155|PMID:32926855 9063833 Umod uromodulin gene DOID:10763 hypertension ISO RGD:737075 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22228705 9063833 Umod uromodulin gene DOID:10825 essential hypertension ISO RGD:737075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential hypertension 9063833 Umod uromodulin gene DOID:557 kidney disease ISO RGD:737075 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:14531790|PMID:23988501|PMID:25741868|PMID:26467025|PMID:28492532 9063833 Umod uromodulin gene DOID:630 genetic disease ISO RGD:737075 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16883323|PMID:25741868|PMID:28492532 9063833 Umod uromodulin gene DOID:784 chronic kidney disease ISO RGD:737075 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868 9063833 Umod uromodulin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:3940 D RGD:9068941 20200609 RGD protein:increased expression:urine PMID:10925066|REF_RGD_ID:2324705 9063833 Umod uromodulin gene DOID:9007051 Autosomal Dominant Tubulointerstitial Kidney Disease 1 ISO RGD:737075 D RGD:7240710 20180130 OMIM 9063833 Umod uromodulin gene DOID:9007051 Autosomal Dominant Tubulointerstitial Kidney Disease 1 ISO RGD:737075 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: Uromodulin-associated kidney disease PMID:10330352|PMID:12205338|PMID:12471200|PMID:12519891|PMID:12629136|PMID:12634862|PMID:14531790|PMID:14569098|PMID:14570709|PMID:15253706|PMID:15589826|PMID:16135773|PMID:16883323|PMID:17010121|PMID:17245395|PMID:17576681|PMID:18004297|PMID:19465746|PMID:20172860|PMID:20472742|PMID:21060763|PMID:21868615|PMID:22117067|PMID:22693617|PMID:23748428|PMID:23988501|PMID:24670410|PMID:24961278|PMID:25741868|PMID:26467025|PMID:27729211|PMID:27795632|PMID:28166811|PMID:28492532|PMID:28781372|PMID:28990932|PMID:29204651|PMID:29212948|PMID:30099615|PMID:30376835|PMID:30773290|PMID:31068150|PMID:31509055|PMID:31822006|PMID:32274456|PMID:32450155|PMID:32926855|PMID:32954071|PMID:33532864|PMID:33574344|PMID:34519781|PMID:7396593|PMID:9536098 9063855 Angptl4 angiopoietin like 4 gene DOID:0080490 mucolipidosis type IV ISO RGD:1344384 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:28492532 9063855 Angptl4 angiopoietin like 4 gene DOID:1168 familial hyperlipidemia ISO RGD:1553412 D RGD:9068941 20200609 RGD PMID:12401877|PMID:15837923|REF_RGD_ID:1578349|REF_RGD_ID:1625354 9063855 Angptl4 angiopoietin like 4 gene DOID:12849 autistic disorder ISO RGD:1344384 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9063855 Angptl4 angiopoietin like 4 gene DOID:305 carcinoma ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 9063855 Angptl4 angiopoietin like 4 gene DOID:3393 coronary artery disease ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27135400 9063855 Angptl4 angiopoietin like 4 gene DOID:630 genetic disease ISO RGD:1344384 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063855 Angptl4 angiopoietin like 4 gene DOID:9000081 Lymphatic Metastasis ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17130448 9063855 Angptl4 angiopoietin like 4 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17130448 9063855 Angptl4 angiopoietin like 4 gene DOID:9003370 Dyslipidemias ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17322881 9063855 Angptl4 angiopoietin like 4 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17130448 9063855 Angptl4 angiopoietin like 4 gene DOID:9005369 Hepatomegaly ISO RGD:1553412 D RGD:9068941 20200609 RGD PMID:15837923|REF_RGD_ID:1625354 9063855 Angptl4 angiopoietin like 4 gene DOID:9006599 Hypertriglyceridemia ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28842503 9063855 Angptl4 angiopoietin like 4 gene DOID:9008939 Breast Neoplasms ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21489049 9063855 Angptl4 angiopoietin like 4 gene DOID:9452 steatotic liver disease ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28842503 9063855 Angptl4 angiopoietin like 4 gene DOID:9452 steatotic liver disease ISO RGD:1553412 D RGD:9068941 20200609 RGD PMID:15837923|REF_RGD_ID:1625354 9063855 Angptl4 angiopoietin like 4 gene DOID:9970 obesity ISO RGD:1344384 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:28842503 9063855 Angptl4 angiopoietin like 4 gene DOID:9970 obesity resistance ISO RGD:1553412 D RGD:9068941 20200609 RGD PMID:17210919|REF_RGD_ID:1625353 9063866 Cltc clathrin heavy chain gene DOID:0050745 diffuse large B-cell lymphoma ISO RGD:732795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22474449 9063866 Cltc clathrin heavy chain gene DOID:0060307 autosomal dominant intellectual developmental disorder ISO RGD:732795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability PMID:25741868 9063866 Cltc clathrin heavy chain gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:732795 D RGD:7240710 20190315 OMIM 9063866 Cltc clathrin heavy chain gene DOID:0080226 autosomal dominant intellectual developmental disorder 56 ISO RGD:732795 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CLTC-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 PMID:17576681|PMID:22831640|PMID:25741868|PMID:26822784|PMID:28135719|PMID:28492532|PMID:29100083|PMID:31776469|PMID:9536098 9063866 Cltc clathrin heavy chain gene DOID:0110980 Joubert syndrome 1 ISO RGD:732795 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 9063866 Cltc clathrin heavy chain gene DOID:1059 intellectual disability ISO RGD:732795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9063866 Cltc clathrin heavy chain gene DOID:630 genetic disease ISO RGD:732795 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:1063406|PMID:11955450|PMID:15217342|PMID:15284851|PMID:15858577|PMID:16618797|PMID:16982422|PMID:18762582|PMID:19348700|PMID:19854944|PMID:20206336|PMID:22511880|PMID:22831640|PMID:23911319|PMID:24234437|PMID:24253303|PMID:24870542|PMID:25741868|PMID:26822784|PMID:28135719|PMID:28492532|PMID:29100083|PMID:31776469|PMID:8375651|PMID:9147638|PMID:9671304 9063866 Cltc clathrin heavy chain gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:732795 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9063866 Cltc clathrin heavy chain gene DOID:9008086 Developmental Disabilities ISO RGD:732795 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9063866 Cltc clathrin heavy chain gene DOID:9008582 Developmental Disease ISO RGD:732795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9063907 Hhat hedgehog acyltransferase gene DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome ISO RGD:1351064 D RGD:7240710 20201223 OMIM 9063907 Hhat hedgehog acyltransferase gene DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome ISO RGD:1351064 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome PMID:24784881|PMID:25741868|PMID:28492532|PMID:30912300 9063907 Hhat hedgehog acyltransferase gene DOID:1540 parathyroid carcinoma ISO RGD:1351064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9063907 Hhat hedgehog acyltransferase gene DOID:630 genetic disease ISO RGD:1351064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15075292|PMID:18534984|PMID:23055936|PMID:24784881 9063907 Hhat hedgehog acyltransferase gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1351064 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9063930 Apobr apolipoprotein B receptor gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1607021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 9063930 Apobr apolipoprotein B receptor gene DOID:5419 schizophrenia ISO RGD:1607021 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9063930 Apobr apolipoprotein B receptor gene DOID:630 genetic disease ISO RGD:1607021 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063939 Ankrd10 ankyrin repeat domain 10 gene DOID:2222 factor X deficiency ISO RGD:1321439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Factor X deficiency PMID:25741868|PMID:34355501 9063939 Ankrd10 ankyrin repeat domain 10 gene DOID:630 genetic disease ISO RGD:1321439 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063939 Ankrd10 ankyrin repeat domain 10 gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1321439 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9063960 Medag mesenteric estrogen dependent adipogenesis gene DOID:630 genetic disease ISO RGD:1605918 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063969 Eif4h eukaryotic translation initiation factor 4H gene DOID:0060041 autism spectrum disorder ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:21658581|PMID:25741868|PMID:27569545 9063969 Eif4h eukaryotic translation initiation factor 4H gene DOID:12849 autistic disorder ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9063969 Eif4h eukaryotic translation initiation factor 4H gene DOID:1928 Williams-Beuren syndrome ISO RGD:1347903 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Williams syndrome PMID:25741868 9063969 Eif4h eukaryotic translation initiation factor 4H gene DOID:1929 supravalvular aortic stenosis ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:10627943|PMID:11175284|PMID:25205790|PMID:28277377|PMID:28492532|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740 9063969 Eif4h eukaryotic translation initiation factor 4H gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9063969 Eif4h eukaryotic translation initiation factor 4H gene DOID:5419 schizophrenia ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9063969 Eif4h eukaryotic translation initiation factor 4H gene DOID:630 genetic disease ISO RGD:1347903 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9063969 Eif4h eukaryotic translation initiation factor 4H gene DOID:8445 intestinal volvulus ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 9063969 Eif4h eukaryotic translation initiation factor 4H gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9063969 Eif4h eukaryotic translation initiation factor 4H gene DOID:9008419 Volvulus Of Midgut ISO RGD:1347903 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 9063982 Mettl8 methyltransferase 8, tRNA N3-cytidine gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1605633 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 9063982 Mettl8 methyltransferase 8, tRNA N3-cytidine gene DOID:0112264 Woodhouse-Sakati syndrome ISO RGD:1605633 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Woodhouse-Sakati syndrome PMID:16199547|PMID:17576681|PMID:17710875|PMID:19026396|PMID:20507343|PMID:25741868|PMID:26612766|PMID:28492532|PMID:31323129|PMID:9536098 9063982 Mettl8 methyltransferase 8, tRNA N3-cytidine gene DOID:630 genetic disease ISO RGD:1605633 D RGD:8554872 20230221 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9063996 Matr3 matrin 3 gene DOID:0060212 amyotrophic lateral sclerosis type 21 ISO RGD:736833 D RGD:7240710 20180130 OMIM 9063996 Matr3 matrin 3 gene DOID:0060212 amyotrophic lateral sclerosis type 21 ISO RGD:736833 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2 PMID:17576681|PMID:19344878|PMID:24686783|PMID:25154462|PMID:25185957|PMID:25677933|PMID:25741868|PMID:25771394|PMID:25952333|PMID:26467025|PMID:26493020|PMID:26528920|PMID:26780671|PMID:28029397|PMID:28492532|PMID:29109432|PMID:30015619|PMID:30563574|PMID:31019288|PMID:32028661|PMID:9536098|PMID:9837826 9063996 Matr3 matrin 3 gene DOID:0070061 autosomal dominant intellectual developmental disorder 31 ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 9063996 Matr3 matrin 3 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:736833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9063996 Matr3 matrin 3 gene DOID:0111457 STING-associated vasculopathy with onset in infancy ISO RGD:736833 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy PMID:28492532 9063996 Matr3 matrin 3 gene DOID:11720 distal myopathy ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal myopathy 9063996 Matr3 matrin 3 gene DOID:332 amyotrophic lateral sclerosis ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:25741868 9063996 Matr3 matrin 3 gene DOID:630 genetic disease ISO RGD:736833 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9063996 Matr3 matrin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736833 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9063996 Matr3 matrin 3 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:736833 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9064063 Nefl neurofilament light chain gene DOID:0050328 congenital hypothyroidism ISO RGD:621458 D RGD:9068941 20200609 RGD protein:decreased expression, increased phosphorylation PMID:18845185|REF_RGD_ID:9693732 9064063 Nefl neurofilament light chain gene DOID:0050433 fatal familial insomnia ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:30048013|REF_RGD_ID:127285394 9064063 Nefl neurofilament light chain gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1344238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:12566280|PMID:22765307|PMID:25741868|PMID:26467025|PMID:28492532 9064063 Nefl neurofilament light chain gene DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G ISO RGD:1344238 D RGD:7240710 20190315 OMIM 9064063 Nefl neurofilament light chain gene DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G ISO RGD:1344238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate G PMID:12477167|PMID:12566280|PMID:14733962|PMID:17052987|PMID:19158810|PMID:20301384|PMID:21493625|PMID:21840889|PMID:22206013|PMID:22288874|PMID:24887401|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:25877835|PMID:26109717|PMID:26467025|PMID:26645395|PMID:27206872|PMID:27549087|PMID:28492532|PMID:32376792 9064063 Nefl neurofilament light chain gene DOID:0080600 COVID-19 ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:33743046|REF_RGD_ID:127284892 9064063 Nefl neurofilament light chain gene DOID:0080600 COVID-19 severity ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:serum (human) PMID:33377539|REF_RGD_ID:127285022 9064063 Nefl neurofilament light chain gene DOID:0080600 COVID-19 severity ISO RGD:1344238 D RGD:9068941 20210625 RGD associated with central neurological symptoms;protein:increased expression:CSF (human) PMID:33369818|REF_RGD_ID:127284893 9064063 Nefl neurofilament light chain gene DOID:0080600 COVID-19 severity ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:plasma (human) PMID:32546655|REF_RGD_ID:127284882 9064063 Nefl neurofilament light chain gene DOID:0080832 mild cognitive impairment ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 9064063 Nefl neurofilament light chain gene DOID:0110149 Charcot-Marie-Tooth disease type 1F ISO RGD:1344238 D RGD:7240710 20180130 OMIM 9064063 Nefl neurofilament light chain gene DOID:0110149 Charcot-Marie-Tooth disease type 1F ISO RGD:1344238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1f PMID:12477167|PMID:12481988|PMID:12566280|PMID:15111691|PMID:16452125|PMID:16930284|PMID:17052987|PMID:18023247|PMID:19123978|PMID:19158810|PMID:19286384|PMID:20039262|PMID:20301384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:21840889|PMID:2288874|PMID:23230147|PMID:24078732|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26645395|PMID:27206872|PMID:28492532|PMID:28501821|PMID:31211173|PMID:31574566|PMID:31673878|PMID:32376792 9064063 Nefl neurofilament light chain gene DOID:0110151 Charcot-Marie-Tooth disease type 1C ISO RGD:1344238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C PMID:12481988|PMID:15111691|PMID:16452125|PMID:18023247|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28501821|PMID:31211173|PMID:31574566 9064063 Nefl neurofilament light chain gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1344238 D RGD:7240710 20180130 OMIM 9064063 Nefl neurofilament light chain gene DOID:0110165 Charcot-Marie-Tooth disease type 2E ISO RGD:1344238 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E PMID:10841809|PMID:11220745|PMID:12393795|PMID:12477167|PMID:12481988|PMID:12566280|PMID:14733962|PMID:15111691|PMID:15241803|PMID:15282209|PMID:16199547|PMID:16452125|PMID:16619203|PMID:16930284|PMID:17052987|PMID:17576681|PMID:17620486|PMID:17881652|PMID:18023247|PMID:19123978|PMID:19158810|PMID:19286384|PMID:19458545|PMID:20039262|PMID:20301384|PMID:20421365|PMID:21149811|PMID:21168446|PMID:21493625|PMID:21840889|PMID:22155564|PMID:22206013|PMID:22288874|PMID:22730194|PMID:22765307|PMID:2288874|PMID:23230147|PMID:23618875|PMID:24078732|PMID:24887401|PMID:25264603|PMID:25448007|PMID:25552649|PMID:25583183|PMID:25614874|PMID:25741868|PMID:25741869|PMID:25802885|PMID:25877835|PMID:26109717|PMID:26392352|PMID:26467025|PMID:26645395|PMID:27206872|PMID:27549087|PMID:28492532|PMID:28501821|PMID:29888333|PMID:30373780|PMID:30393079|PMID:31211173|PMID:31574566|PMID:31788662|PMID:31827005|PMID:32376792|PMID:33201363|PMID:34476298|PMID:35044100|PMID:35771920|PMID:9536098 9064063 Nefl neurofilament light chain gene DOID:0111198 autosomal dominant distal hereditary motor neuronopathy ISO RGD:1344238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 9064063 Nefl neurofilament light chain gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:1344238 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:25741868|PMID:26467025|PMID:28492532 9064063 Nefl neurofilament light chain gene DOID:0111559 Charcot-Marie-Tooth disease type 2EE ISO RGD:1344238 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE PMID:17620486|PMID:25741868|PMID:28492532 9064063 Nefl neurofilament light chain gene DOID:10003 sensorineural hearing loss ISO RGD:1344238 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12477167|PMID:12566280|PMID:19158810|PMID:20301384|PMID:21840889|PMID:25448007|PMID:25552649|PMID:25741868|PMID:25741869|PMID:26645395|PMID:27206872|PMID:28492532|PMID:32376792 9064063 Nefl neurofilament light chain gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1344238 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy PMID:11220745|PMID:12477167|PMID:12566280|PMID:14733962|PMID:16619203|PMID:16930284|PMID:17052987|PMID:17620486|PMID:17881652|PMID:19158810|PMID:19458545|PMID:20039262|PMID:20301384|PMID:21149811|PMID:21493625|PMID:21840889|PMID:22155564|PMID:22206013|PMID:22288874|PMID:22765307|PMID:23618875|PMID:24887401|PMID:25264603|PMID:25448007|PMID:25552649|PMID:25614874|PMID:25741868|PMID:25741869|PMID:25802885|PMID:25877835|PMID:26109717|PMID:26467025|PMID:26645395|PMID:27206872|PMID:27549087|PMID:28492532|PMID:28501821|PMID:30373780|PMID:31574566|PMID:31788662|PMID:32376792|PMID:33201363 9064063 Nefl neurofilament light chain gene DOID:10652 Alzheimer's disease ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29368621|PMID:29391125|REF_RGD_ID:127284889|REF_RGD_ID:127285384 9064063 Nefl neurofilament light chain gene DOID:11446 sciatic neuropathy ISO RGD:621458 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Type 1 PMID:12638730|REF_RGD_ID:9743948 9064063 Nefl neurofilament light chain gene DOID:11446 sciatic neuropathy ISO RGD:621458 D RGD:9068941 20201211 RGD PMID:12445968|PMID:3135913|REF_RGD_ID:9693730|REF_RGD_ID:9743941 9064063 Nefl neurofilament light chain gene DOID:11720 distal myopathy ISO RGD:1344238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:12481988|PMID:15111691|PMID:16452125|PMID:19286384|PMID:21168446|PMID:25741868|PMID:28492532 9064063 Nefl neurofilament light chain gene DOID:11720 distal myopathy ISO RGD:1344238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Distal muscle weakness PMID:12481988|PMID:15111691|PMID:16452125|PMID:18023247|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28501821|PMID:31211173|PMID:31574566 9064063 Nefl neurofilament light chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29368621|PMID:30309804|PMID:31541342|REF_RGD_ID:127284880|REF_RGD_ID:127284881|REF_RGD_ID:127284889 9064063 Nefl neurofilament light chain gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF, serum (human) PMID:27929120|REF_RGD_ID:127284887 9064063 Nefl neurofilament light chain gene DOID:12217 Lewy body dementia ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29368621|PMID:29391125|REF_RGD_ID:127284889|REF_RGD_ID:127285384 9064063 Nefl neurofilament light chain gene DOID:12377 spinal muscular atrophy ISO RGD:1344238 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy 9064063 Nefl neurofilament light chain gene DOID:12894 Sjogren's syndrome ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:32423153|REF_RGD_ID:127284890 9064063 Nefl neurofilament light chain gene DOID:14330 Parkinson's disease ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 9064063 Nefl neurofilament light chain gene DOID:1459 hypothyroidism treatment ISO RGD:621458 D RGD:9068941 20200609 RGD PMID:10439464|REF_RGD_ID:9743942 9064063 Nefl neurofilament light chain gene DOID:1596 depressive disorder ISO RGD:621458 D RGD:9068941 20200609 RGD protein:decreased expression:dentate gyrus, hippocampus CA3 PMID:17683840|REF_RGD_ID:2299053 9064063 Nefl neurofilament light chain gene DOID:224 transient cerebral ischemia ISO RGD:621458 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus PMID:8726968|REF_RGD_ID:9743938 9064063 Nefl neurofilament light chain gene DOID:2377 multiple sclerosis ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:33317883|REF_RGD_ID:127285024 9064063 Nefl neurofilament light chain gene DOID:2377 multiple sclerosis disease_progression ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expresssion:serum (human) PMID:31383792|REF_RGD_ID:127284875 9064063 Nefl neurofilament light chain gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1344238 D RGD:9068941 20210625 RGD associated with relapse;protein:increased expression:serum (human) PMID:30761586|REF_RGD_ID:127285025 9064063 Nefl neurofilament light chain gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:33658322|REF_RGD_ID:127285027 9064063 Nefl neurofilament light chain gene DOID:3008 invasive ductal carcinoma ISO RGD:1344238 D RGD:9068941 20200609 RGD DNA:loss of heterozygosity PMID:8814452|REF_RGD_ID:2298999 9064063 Nefl neurofilament light chain gene DOID:3213 demyelinating disease disease_progression ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expresssion:serum (human) PMID:31383792|REF_RGD_ID:127284875 9064063 Nefl neurofilament light chain gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:1344238 D RGD:9068941 20200609 RGD protein:increased expression:serum, csf PMID:26273687|REF_RGD_ID:13525006 9064063 Nefl neurofilament light chain gene DOID:332 amyotrophic lateral sclerosis severity ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:serum (human) PMID:30309882|REF_RGD_ID:127284877 9064063 Nefl neurofilament light chain gene DOID:332 amyotrophic lateral sclerosis treatment ISO RGD:1552280 D RGD:9068941 20200609 RGD PMID:10686419|REF_RGD_ID:13525000 9064063 Nefl neurofilament light chain gene DOID:3525 middle cerebral artery infarction ISO RGD:1552280 D RGD:9068941 20201211 RGD protein:increased expression:brain PMID:29967576|REF_RGD_ID:27226878 9064063 Nefl neurofilament light chain gene DOID:4166 syphilis ISO RGD:1344238 D RGD:9068941 20210625 RGD associated with age;protein:increased expression:CSF (human) PMID:32117023|REF_RGD_ID:127285386 9064063 Nefl neurofilament light chain gene DOID:526 human immunodeficiency virus infectious disease treatment ISO RGD:1344238 D RGD:9068941 20210618 RGD PMID:30005007|REF_RGD_ID:127285390 9064063 Nefl neurofilament light chain gene DOID:574 peripheral nervous system disease ISO RGD:1344238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:12481988|PMID:15111691|PMID:16452125|PMID:18023247|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28501821|PMID:31211173|PMID:31574566 9064063 Nefl neurofilament light chain gene DOID:630 genetic disease ISO RGD:1344238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11220745|PMID:12393795|PMID:12481988|PMID:12566280|PMID:15111691|PMID:15282209|PMID:16452125|PMID:16930284|PMID:17052987|PMID:17620486|PMID:17881652|PMID:18023247|PMID:19158810|PMID:19286384|PMID:19458545|PMID:20039262|PMID:20301384|PMID:20421365|PMID:21149811|PMID:21168446|PMID:21493625|PMID:22155564|PMID:22206013|PMID:2288874|PMID:23230147|PMID:23618875|PMID:24078732|PMID:25741868|PMID:25802885|PMID:26392352|PMID:26467025|PMID:28492532|PMID:28501821|PMID:30373780|PMID:31211173|PMID:31574566|PMID:33201363|PMID:35044100|PMID:35771920 9064063 Nefl neurofilament light chain gene DOID:639 acute disseminated encephalomyelitis disease_progression ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expresssion:serum (human) PMID:31383792|REF_RGD_ID:127284875 9064063 Nefl neurofilament light chain gene DOID:643 progressive multifocal leukoencephalopathy ISO RGD:1344238 D RGD:9068941 20210618 RGD associated with relapsing-remitting multiple sclerosis;protein:increased expression:serum (human) PMID:30761586|PMID:33903203|REF_RGD_ID:127284888|REF_RGD_ID:127285025 9064063 Nefl neurofilament light chain gene DOID:870 neuropathy ISO RGD:1344238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:12481988|PMID:15111691|PMID:16452125|PMID:18023247|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28501821|PMID:31211173|PMID:31574566 9064063 Nefl neurofilament light chain gene DOID:8725 vascular dementia ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 9064063 Nefl neurofilament light chain gene DOID:8869 neuromyelitis optica ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:serum (human) PMID:33317883|REF_RGD_ID:127285024 9064063 Nefl neurofilament light chain gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:621458 D RGD:9068941 20200609 RGD PMID:18772508|REF_RGD_ID:9698443 9064063 Nefl neurofilament light chain gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF, serum (human) PMID:27929120|REF_RGD_ID:127284887 9064063 Nefl neurofilament light chain gene DOID:9000794 Sporadic Creutzfeldt-Jakob Disease severity ISO RGD:1344238 D RGD:9068941 20210618 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 9064063 Nefl neurofilament light chain gene DOID:9001414 Neurosyphilis disease_progression ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:32117023|REF_RGD_ID:127285386 9064063 Nefl neurofilament light chain gene DOID:9001890 Auditory Neuropathy ISO RGD:1344238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Auditory neuropathy 9064063 Nefl neurofilament light chain gene DOID:9002031 Frontotemporal Lobar Degeneration ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29368621|REF_RGD_ID:127284889 9064063 Nefl neurofilament light chain gene DOID:9002498 Wallerian Degeneration ISO RGD:621458 D RGD:9068941 20200609 RGD protein:decreased expression:neuron PMID:10646539|REF_RGD_ID:9698439 9064063 Nefl neurofilament light chain gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:621458 D RGD:9068941 20200609 RGD protein:increased expression:cerebrospinal fluid, spinal cord PMID:16182933|REF_RGD_ID:2299007 9064063 Nefl neurofilament light chain gene DOID:9003034 Anti-N-Methyl-D-Aspartate Receptor Encephalitis treatment ISO RGD:1344238 D RGD:9068941 20200609 RGD PMID:31313506|REF_RGD_ID:27226816 9064063 Nefl neurofilament light chain gene DOID:9003284 HIV Seropositivity treatment ISO RGD:1344238 D RGD:9068941 20210618 RGD PMID:30105502|REF_RGD_ID:127284876 9064063 Nefl neurofilament light chain gene DOID:9004086 AIDS Dementia Complex ISO RGD:1344238 D RGD:9068941 20210618 RGD associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human) PMID:30105502|REF_RGD_ID:127284876 9064063 Nefl neurofilament light chain gene DOID:9004086 AIDS Dementia Complex ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:27400930|REF_RGD_ID:127284885 9064063 Nefl neurofilament light chain gene DOID:9004484 Sepsis disease_progression ISO RGD:1344238 D RGD:9068941 20200609 RGD PMID:30677080|REF_RGD_ID:27226881 9064063 Nefl neurofilament light chain gene DOID:9005695 Malnutrition ISO RGD:621458 D RGD:9068941 20201211 RGD protein:increased expression:cerebral cortex PMID:1908892|REF_RGD_ID:40902817 9064063 Nefl neurofilament light chain gene DOID:9007096 Stroke ISO RGD:1344238 D RGD:9068941 20200609 RGD PMID:29967576|REF_RGD_ID:27226878 9064063 Nefl neurofilament light chain gene DOID:9007842 Sepsis-Associated Encephalopathy disease_progression ISO RGD:1344238 D RGD:9068941 20200609 RGD PMID:30677080|REF_RGD_ID:27226881 9064063 Nefl neurofilament light chain gene DOID:9008305 Talipes Cavus ISO RGD:1344238 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:12481988|PMID:15111691|PMID:16452125|PMID:18023247|PMID:19286384|PMID:20421365|PMID:21168446|PMID:21493625|PMID:2288874|PMID:23230147|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28501821|PMID:31211173|PMID:31574566 9064063 Nefl neurofilament light chain gene DOID:9255 frontotemporal dementia ISO RGD:1344238 D RGD:9068941 20210625 RGD protein:increased expression:CSF (human) PMID:29391125|REF_RGD_ID:127285384 9064096 LOC102025775 histone H2AX gene DOID:0050866 oral squamous cell carcinoma disease_progression ISO RGD:1346464 D RGD:9068941 20210820 RGD protein:increased expression:mucosa of oral region (human) PMID:29928356|REF_RGD_ID:150340604 9064096 LOC102025775 histone H2AX gene DOID:0060017 CD3epsilon deficiency ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9064096 LOC102025775 histone H2AX gene DOID:0060837 isolated microphthalmia 5 ISO RGD:1346464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 9064096 LOC102025775 histone H2AX gene DOID:0080690 RASopathy ISO RGD:1346464 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9064096 LOC102025775 histone H2AX gene DOID:0081330 glycogen storage disease Ib ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:28492532 9064096 LOC102025775 histone H2AX gene DOID:0110651 long QT syndrome 10 ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 9064096 LOC102025775 histone H2AX gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9064096 LOC102025775 histone H2AX gene DOID:0111971 immunodeficiency 18 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9064096 LOC102025775 histone H2AX gene DOID:0111972 immunodeficiency 19 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9064096 LOC102025775 histone H2AX gene DOID:0111973 immunodeficiency 17 ISO RGD:1346464 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660 9064096 LOC102025775 histone H2AX gene DOID:10763 hypertension treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:24239235|REF_RGD_ID:8693672 9064096 LOC102025775 histone H2AX gene DOID:1824 status epilepticus ISO RGD:1566119 D RGD:9068941 20200609 RGD protein:increased phosphorylation:brain PMID:21613478|REF_RGD_ID:8693708 9064096 LOC102025775 histone H2AX gene DOID:224 transient cerebral ischemia treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:20830300|REF_RGD_ID:8693742 9064096 LOC102025775 histone H2AX gene DOID:3068 glioblastoma ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 9064096 LOC102025775 histone H2AX gene DOID:5419 schizophrenia ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9064096 LOC102025775 histone H2AX gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23792534|REF_RGD_ID:8693718 9064096 LOC102025775 histone H2AX gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9064096 LOC102025775 histone H2AX gene DOID:9004203 Chromosome Breakage ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26231820 9064096 LOC102025775 histone H2AX gene DOID:9004969 Neoplasm Recurrence, Local ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433 9064096 LOC102025775 histone H2AX gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:1558155 D RGD:9068941 20200609 RGD PMID:22384017|REF_RGD_ID:7240549 9064096 LOC102025775 histone H2AX gene DOID:9005779 Polyploidy ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25123929 9064096 LOC102025775 histone H2AX gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23726287|REF_RGD_ID:8693706 9064096 LOC102025775 histone H2AX gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26651356 9064096 LOC102025775 histone H2AX gene DOID:9007383 Chemical and Drug Induced Liver Injury treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23265463|REF_RGD_ID:8693741 9064096 LOC102025775 histone H2AX gene DOID:9007661 Dwarfism ISO RGD:1346464 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9064096 LOC102025775 histone H2AX gene DOID:9007838 Myocardial Reperfusion Injury treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23108649|REF_RGD_ID:8693739 9064096 LOC102025775 histone H2AX gene DOID:9008939 Breast Neoplasms ISO RGD:1346464 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18925433|PMID:21463514 9064096 LOC102025775 histone H2AX gene DOID:916 liver benign neoplasm treatment ISO RGD:1566119 D RGD:9068941 20200609 RGD PMID:23474136|REF_RGD_ID:8693737 9064096 LOC102025775 histone H2AX gene DOID:9655 oral mucosa leukoplakia disease_progression ISO RGD:1346464 D RGD:9068941 20210820 RGD protein:increased expression:mucosa of oral region (human) PMID:29928356|REF_RGD_ID:150340604 9064101 Lmln leishmanolysin like peptidase gene DOID:10283 prostate cancer ISO RGD:1322938 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9064101 Lmln leishmanolysin like peptidase gene DOID:630 genetic disease ISO RGD:1322938 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064120 Ppig peptidylprolyl isomerase G gene DOID:630 genetic disease ISO RGD:731455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064143 Cav3 caveolin 3 gene DOID:0050700 cardiomyopathy ISO RGD:1344208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15099591|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17897828|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26404900|PMID:26467025|PMID:26498160|PMID:27066573|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31638414|PMID:31737537|PMID:9536092 9064143 Cav3 caveolin 3 gene DOID:0060255 rippling muscle disease 2 ISO RGD:1344208 D RGD:7240710 20180130 OMIM 9064143 Cav3 caveolin 3 gene DOID:0060255 rippling muscle disease 2 ISO RGD:1344208 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Caveolinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1C | ClinVar Annotator: match by term: Rippling muscle disease 2 | ClinVar Annotator: match by term: Rippling muscle disease 2, autosomal recessive PMID:09536092|PMID:09537420|PMID:10227634|PMID:10464299|PMID:10746614|PMID:11001938|PMID:11251997|PMID:11353417|PMID:11431690|PMID:1146501|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12557291|PMID:12666119|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14600260|PMID:14633633|PMID:14663034|PMID:14672715|PMID:15318349|PMID:15564037|PMID:15580566|PMID:15668980|PMID:16247063|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:17576681|PMID:17897828|PMID:17994539|PMID:18253147|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:19697367|PMID:19773168|PMID:19835634|PMID:20229577|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26185955|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:2705900|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27854218|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:28898996|PMID:28981925|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30704477|PMID:30723005|PMID:30847666|PMID:31036801|PMID:31043699|PMID:31638414|PMID:32419263|PMID:32528171|PMID:35026164|PMID:35027292|PMID:36909082|PMID:9536092|PMID:9536098|PMID:9537420 9064143 Cav3 caveolin 3 gene DOID:0070308 rippling muscle disease 1 ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11431690|PMID:15668980|PMID:16247063|PMID:21294223|PMID:30055862 9064143 Cav3 caveolin 3 gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:14672715|PMID:15580566 9064143 Cav3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:7240710 20180130 OMIM 9064143 Cav3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:09536092|PMID:11251997|PMID:11884389|PMID:15580566|PMID:17060380|PMID:17210839|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:29961767|PMID:9536092 9064143 Cav3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17576681|PMID:17897828|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536092|PMID:9536098 9064143 Cav3 caveolin 3 gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1344208 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17576681|PMID:17897828|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:35026164|PMID:9536092|PMID:9536098 9064143 Cav3 caveolin 3 gene DOID:0110644 long QT syndrome 1 ISO RGD:1344208 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15318349|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17556197|PMID:18253147|PMID:18509671|PMID:19380584|PMID:19773168|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28810874|PMID:28898996|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30704477|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536092 9064143 Cav3 caveolin 3 gene DOID:0110650 long QT syndrome 9 ISO RGD:1344208 D RGD:7240710 20180130 OMIM 9064143 Cav3 caveolin 3 gene DOID:0110650 long QT syndrome 9 ISO RGD:1344208 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9 | ClinVar Annotator: match by term: Long QT syndrome 9, acquired, susceptibility to PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17576681|PMID:17897828|PMID:18253147|PMID:18509671|PMID:18583131|PMID:18606002|PMID:18930476|PMID:19380584|PMID:19773168|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:22245016|PMID:22378279|PMID:22584458|PMID:22595201|PMID:23465283|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26159999|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27930701|PMID:28407228|PMID:28492532|PMID:28837624|PMID:28898996|PMID:28981925|PMID:29396561|PMID:29501670|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30704477|PMID:30723005|PMID:31036801|PMID:31043699|PMID:35026164|PMID:9536092|PMID:9536098 9064143 Cav3 caveolin 3 gene DOID:0111004 Joubert syndrome 9 ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 9064143 Cav3 caveolin 3 gene DOID:0111191 distal myopathy Tateyama type ISO RGD:1344208 D RGD:7240710 20180130 OMIM 9064143 Cav3 caveolin 3 gene DOID:0111191 distal myopathy Tateyama type ISO RGD:1344208 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Distal myopathy, Tateyama type PMID:09536092|PMID:10227634|PMID:10746614|PMID:11251997|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17556197|PMID:17576681|PMID:17897828|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:27061274|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28837624|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:35026164|PMID:9536092|PMID:9536098 9064143 Cav3 caveolin 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344208 D RGD:7240710 20180130 OMIM 9064143 Cav3 caveolin 3 gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1344208 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC PMID:09536092|PMID:10227634|PMID:10746614|PMID:11001938|PMID:11251997|PMID:11353417|PMID:11431690|PMID:1146501|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12082049|PMID:12269726|PMID:12666119|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14663034|PMID:14749532|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17576681|PMID:17897828|PMID:17994539|PMID:18487559|PMID:18509671|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20229577|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:21660982|PMID:22976939|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26185955|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27483260|PMID:27930701|PMID:28492532|PMID:28807458|PMID:28837624|PMID:28877744|PMID:28981925|PMID:29961767|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:35026164|PMID:9536092|PMID:9536098 9064143 Cav3 caveolin 3 gene DOID:11724 limb-girdle muscular dystrophy ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:09536092|PMID:11251997|PMID:11884389|PMID:14672715|PMID:15318349|PMID:15580566|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17556197|PMID:18509671|PMID:19380584|PMID:23465283|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25630502|PMID:25741868|PMID:26467025|PMID:26498160|PMID:27483260|PMID:27930701|PMID:28492532|PMID:29961767|PMID:30055862|PMID:9536092 9064143 Cav3 caveolin 3 gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9064143 Cav3 caveolin 3 gene DOID:1682 congenital heart disease ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 9064143 Cav3 caveolin 3 gene DOID:2843 long QT syndrome ISO RGD:1344208 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome PMID:09536092|PMID:10227634|PMID:10746614|PMID:11001938|PMID:11251997|PMID:11353417|PMID:11431690|PMID:1146501|PMID:11532985|PMID:11756609|PMID:11805270|PMID:11884389|PMID:12269726|PMID:12666119|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14647208|PMID:14672715|PMID:15099591|PMID:15318349|PMID:15564037|PMID:15580566|PMID:15668980|PMID:16723230|PMID:16730439|PMID:16770780|PMID:17060380|PMID:17210839|PMID:17275750|PMID:17405141|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17897828|PMID:17994539|PMID:18253147|PMID:18487559|PMID:18509671|PMID:18583131|PMID:18606002|PMID:18671188|PMID:18930476|PMID:19238754|PMID:19380584|PMID:19697367|PMID:19726876|PMID:19773168|PMID:20229577|PMID:20472890|PMID:21182936|PMID:21294223|PMID:21404291|PMID:21610159|PMID:21660982|PMID:22245016|PMID:22378279|PMID:22581547|PMID:22584458|PMID:22595201|PMID:22976939|PMID:23465283|PMID:23631430|PMID:23640888|PMID:23861362|PMID:24021552|PMID:24033266|PMID:24070816|PMID:24123366|PMID:24503780|PMID:24917393|PMID:25214167|PMID:25351510|PMID:25630502|PMID:25741868|PMID:25757662|PMID:26132555|PMID:26159999|PMID:26185955|PMID:26404900|PMID:26467025|PMID:26498160|PMID:26947586|PMID:27061274|PMID:27066573|PMID:27184587|PMID:27312022|PMID:27483260|PMID:27600940|PMID:27772553|PMID:27854218|PMID:27930701|PMID:28232187|PMID:28407228|PMID:28492532|PMID:28807458|PMID:28810874|PMID:28837624|PMID:28877744|PMID:28898996|PMID:28981925|PMID:29396561|PMID:29501670|PMID:29961767|PMID:29970176|PMID:30055862|PMID:30153853|PMID:30174172|PMID:30564623|PMID:30704477|PMID:30723005|PMID:30847666|PMID:31036801|PMID:31043699|PMID:31127727|PMID:31638414|PMID:31737537|PMID:32004987|PMID:32419263|PMID:32528171|PMID:35026164|PMID:35027292|PMID:9536092|PMID:9536098|PMID:9537420 9064143 Cav3 caveolin 3 gene DOID:5844 myocardial infarction ISO RGD:2281 D RGD:9068941 20200609 RGD Protein:increased expression:cytosol PMID:12566108|REF_RGD_ID:1599542 9064143 Cav3 caveolin 3 gene DOID:5844 myocardial infarction ISO RGD:2281 D RGD:9068941 20210521 RGD mRNA, protein; increased expression; myocardium (rat) PMID:29438664|REF_RGD_ID:126925221 9064143 Cav3 caveolin 3 gene DOID:630 genetic disease ISO RGD:1344208 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064143 Cav3 caveolin 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis onset ISO RGD:2281 D RGD:9068941 20200609 RGD Protein:increased expression:spinal cord, astrocyte PMID:15925413|REF_RGD_ID:1582168 9064143 Cav3 caveolin 3 gene DOID:9003129 Chromosome 3, Monosomy 3p25 ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21082655 9064143 Cav3 caveolin 3 gene DOID:9003936 Cardiomegaly ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19299911 9064143 Cav3 caveolin 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9064143 Cav3 caveolin 3 gene DOID:9004730 Romano-Ward Syndrome ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:14672715|PMID:15318349|PMID:17556197|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 9064143 Cav3 caveolin 3 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1344208 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18266981 9064143 Cav3 caveolin 3 gene DOID:9007 sudden infant death syndrome ISO RGD:1344208 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:12666119|PMID:15580566|PMID:25741868|PMID:28492532|PMID:35027292 9064143 Cav3 caveolin 3 gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1344208 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 9064143 Cav3 caveolin 3 gene DOID:9884 muscular dystrophy susceptibility ISO RGD:1344208 D RGD:9068941 20200609 RGD DNA:missense mutation, deletion PMID:9537420|REF_RGD_ID:1599529 9064154 Cdkn2d cyclin dependent kinase inhibitor 2D gene DOID:630 genetic disease ISO RGD:1346352 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064154 Cdkn2d cyclin dependent kinase inhibitor 2D gene DOID:9000217 Stomach Neoplasms ISO RGD:1346352 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9064179 Pts 6-pyruvoyltetrahydropterin synthase gene DOID:0014667 disease of metabolism ISO RGD:68525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Metabolic disease 9064179 Pts 6-pyruvoyltetrahydropterin synthase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:68525 D RGD:7240710 20180130 OMIM 9064179 Pts 6-pyruvoyltetrahydropterin synthase gene DOID:0090106 BH4-deficient hyperphenylalaninemia A ISO RGD:68525 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency PMID:10089284|PMID:10220141|PMID:10319579|PMID:10585341|PMID:10874306|PMID:11388593|PMID:11438997|PMID:11694255|PMID:11916314|PMID:16199547|PMID:16601879|PMID:16850690|PMID:16917893|PMID:17001642|PMID:17160954|PMID:17576681|PMID:18060820|PMID:18505119|PMID:19280650|PMID:19350512|PMID:19823873|PMID:19830588|PMID:20059486|PMID:21542064|PMID:21933604|PMID:22237589|PMID:23138986|PMID:23942198|PMID:25087612|PMID:25304915|PMID:25418970|PMID:25456745|PMID:25525159|PMID:25741868|PMID:25758715|PMID:26830550|PMID:27243974|PMID:27246466|PMID:27629047|PMID:28057123|PMID:28378820|PMID:28492532|PMID:28915855|PMID:29499199|PMID:29577258|PMID:29685341|PMID:30001213|PMID:30109838|PMID:30626930|PMID:30853107|PMID:30926181|PMID:31332730|PMID:32651154|PMID:32905092|PMID:3297709|PMID:33234470|PMID:33822819|PMID:34597372|PMID:35140743|PMID:36313470|PMID:7493990|PMID:7563095|PMID:7698774|PMID:8178819|PMID:8707300|PMID:8841415|PMID:9159737|PMID:9222757|PMID:9450907|PMID:9536098 9064179 Pts 6-pyruvoyltetrahydropterin synthase gene DOID:1059 intellectual disability ISO RGD:68525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9064179 Pts 6-pyruvoyltetrahydropterin synthase gene DOID:1826 epilepsy ISO RGD:68525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:17576681|PMID:28492532|PMID:9536098 9064179 Pts 6-pyruvoyltetrahydropterin synthase gene DOID:630 genetic disease ISO RGD:68525 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11388593|PMID:16917893|PMID:17576681|PMID:18505119|PMID:22237589|PMID:23138986|PMID:25741868|PMID:27243974|PMID:28492532|PMID:29499199|PMID:29577258|PMID:32651154|PMID:33234470|PMID:36313470|PMID:9536098 9064179 Pts 6-pyruvoyltetrahydropterin synthase gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:68525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9064179 Pts 6-pyruvoyltetrahydropterin synthase gene DOID:9008243 Pyruvate Dehydrogenase E2 Deficiency ISO RGD:68525 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency PMID:28492532 9064179 Pts 6-pyruvoyltetrahydropterin synthase gene DOID:9008812 Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency ISO RGD:68525 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency PMID:10220141|PMID:22237589|PMID:25741868|PMID:26830550|PMID:28492532|PMID:7493990|PMID:8178819 9064179 Pts 6-pyruvoyltetrahydropterin synthase gene DOID:9281 phenylketonuria ISO RGD:68525 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric PMID:10319579|PMID:11388593|PMID:11694255|PMID:19350512|PMID:21933604|PMID:22237589|PMID:25525159|PMID:25741868|PMID:28492532|PMID:7493990|PMID:8707300|PMID:9450907 9064193 Hmg20b high mobility group 20B gene DOID:630 genetic disease ISO RGD:1347672 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064193 Hmg20b high mobility group 20B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347672 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:0050523 adult T-cell leukemia/lymphoma ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26437031 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:0050749 peripheral T-cell lymphoma ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24413734 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:10652 Alzheimer's disease ISO RGD:731929 D RGD:9068941 20200609 RGD PMID:14999081|REF_RGD_ID:1358600 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:10652 Alzheimer's disease ISO RGD:731929 D RGD:9068941 20200609 RGD protein:decreased expression:cerebral cortex, soluble fraction (human) PMID:15708437|REF_RGD_ID:1358602 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:3328 temporal lobe epilepsy ISO RGD:2641 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:3770 pulmonary fibrosis ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30658076 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:5419 schizophrenia ISO RGD:731929 D RGD:9068941 20200609 RGD PMID:12670706|REF_RGD_ID:1358593 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:5426 primary ovarian insufficiency ISO RGD:731929 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian failure PMID:25741868 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:731929 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:9000217 Stomach Neoplasms ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16367923 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:9003805 Catalepsy ISO RGD:731929 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16407246 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:9004484 Sepsis ISO RGD:2641 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, decreased activity:T cell (rat) PMID:9551931|REF_RGD_ID:2324866 9064220 Fyn FYN proto-oncogene, Src family tyrosine kinase gene DOID:9007730 Burns ISO RGD:2641 D RGD:9068941 20200609 RGD protein:decreased phosphorylation, decreased activity:T cell (rat) PMID:12353920|REF_RGD_ID:2324864 9064245 Slc2a4rg SLC2A4 regulator gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 9064245 Slc2a4rg SLC2A4 regulator gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 9064245 Slc2a4rg SLC2A4 regulator gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1343076 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9064245 Slc2a4rg SLC2A4 regulator gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1343076 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25921748|PMID:28492532 9064245 Slc2a4rg SLC2A4 regulator gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 9064245 Slc2a4rg SLC2A4 regulator gene DOID:10283 prostate cancer ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9064245 Slc2a4rg SLC2A4 regulator gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1343076 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059 9064245 Slc2a4rg SLC2A4 regulator gene DOID:630 genetic disease ISO RGD:1343076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064259 Vps4a vacuolar protein sorting 4 homolog A gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:732193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9064259 Vps4a vacuolar protein sorting 4 homolog A gene DOID:1338 congenital dyserythropoietic anemia ISO RGD:732193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic congenital hemolytic and dyserythropoietic anemia PMID:25741868|PMID:33186543|PMID:33186545|PMID:33460484 9064259 Vps4a vacuolar protein sorting 4 homolog A gene DOID:630 genetic disease ISO RGD:732193 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064259 Vps4a vacuolar protein sorting 4 homolog A gene DOID:9002030 CIMDAG SYNDROME ISO RGD:732193 D RGD:7240710 20210519 OMIM 9064259 Vps4a vacuolar protein sorting 4 homolog A gene DOID:9002030 CIMDAG SYNDROME ISO RGD:732193 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBELLAR HYPOPLASIA, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, CONGENITAL MICROCEPHALY, DYSTONIA, DYSERYTHROPOIETIC ANEMIA, AND GROWTH RETARDATION PMID:25741868|PMID:33186543|PMID:33186545|PMID:33460484 9064279 Irf2bpl interferon regulatory factor 2 binding protein like gene DOID:0060041 autism spectrum disorder ISO RGD:1322211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9064279 Irf2bpl interferon regulatory factor 2 binding protein like gene DOID:0060224 atrial fibrillation ISO RGD:1322211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30061737 9064279 Irf2bpl interferon regulatory factor 2 binding protein like gene DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ISO RGD:1322211 D RGD:7240710 20190315 OMIM 9064279 Irf2bpl interferon regulatory factor 2 binding protein like gene DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures ISO RGD:1322211 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: IRF2BPL-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures PMID:25741868|PMID:28492532|PMID:30057031|PMID:30166628|PMID:31432588 9064279 Irf2bpl interferon regulatory factor 2 binding protein like gene DOID:1059 intellectual disability ISO RGD:1322211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild PMID:25741868 9064279 Irf2bpl interferon regulatory factor 2 binding protein like gene DOID:1826 epilepsy ISO RGD:1322211 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure PMID:30057031 9064279 Irf2bpl interferon regulatory factor 2 binding protein like gene DOID:607 paraplegia ISO RGD:1322211 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868 9064279 Irf2bpl interferon regulatory factor 2 binding protein like gene DOID:630 genetic disease ISO RGD:1322211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30057031 9064279 Irf2bpl interferon regulatory factor 2 binding protein like gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1322211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9064279 Irf2bpl interferon regulatory factor 2 binding protein like gene DOID:9008086 Developmental Disabilities ISO RGD:1322211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868 9064285 Ltv1 LTV1 ribosome biogenesis factor gene DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses ISO RGD:1322627 D RGD:7240710 20230201 OMIM 9064285 Ltv1 LTV1 ribosome biogenesis factor gene DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses ISO RGD:1322627 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inflammatory poikiloderma with hair abnormalities and acral keratoses PMID:34999892 9064285 Ltv1 LTV1 ribosome biogenesis factor gene DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 ISO RGD:1322627 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:28492532 9064285 Ltv1 LTV1 ribosome biogenesis factor gene DOID:630 genetic disease ISO RGD:1322627 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064310 Ctss cathepsin S gene DOID:0060180 colitis ISO RGD:731651 D RGD:9068941 20200609 RGD protein:increased activity:cecum, colon, spinal cord PMID:21802389|REF_RGD_ID:5686873 9064310 Ctss cathepsin S gene DOID:0111940 immunodeficiency 42 ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9064310 Ctss cathepsin S gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9064310 Ctss cathepsin S gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1350928 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9064310 Ctss cathepsin S gene DOID:10652 Alzheimer's disease ISO RGD:1350928 D RGD:9068941 20200609 RGD PMID:7717452|REF_RGD_ID:5686914 9064310 Ctss cathepsin S gene DOID:10941 intracranial aneurysm ISO RGD:1350928 D RGD:9068941 20200609 RGD protein:increased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 9064310 Ctss cathepsin S gene DOID:10941 intracranial aneurysm ISO RGD:621513 D RGD:9068941 20200609 RGD mRNA:increased expression:brain, artery PMID:18635848|REF_RGD_ID:2306495 9064310 Ctss cathepsin S gene DOID:11832 visual epilepsy ISO RGD:731651 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus CA1, microglial cell PMID:17997037|REF_RGD_ID:5686910 9064310 Ctss cathepsin S gene DOID:11949 Creutzfeldt-Jakob disease ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:12368333|REF_RGD_ID:5686913 9064310 Ctss cathepsin S gene DOID:14250 Down syndrome ISO RGD:1350928 D RGD:9068941 20200609 RGD PMID:7717452|REF_RGD_ID:5686914 9064310 Ctss cathepsin S gene DOID:1540 parathyroid carcinoma ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9064310 Ctss cathepsin S gene DOID:1936 atherosclerosis ISO RGD:733604 D RGD:9068941 20200609 RGD PMID:12213722|REF_RGD_ID:5687152 9064310 Ctss cathepsin S gene DOID:2378 relapsing-remitting multiple sclerosis ISO RGD:1350928 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:blood, leukocyte PMID:21143385|REF_RGD_ID:5687146 9064310 Ctss cathepsin S gene DOID:2773 contact dermatitis ISO RGD:1350928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9064310 Ctss cathepsin S gene DOID:3407 carotid artery disease ISO RGD:1350928 D RGD:9068941 20200609 RGD PMID:9691094|REF_RGD_ID:5687151 9064310 Ctss cathepsin S gene DOID:5812 MHC class II deficiency ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9064310 Ctss cathepsin S gene DOID:630 genetic disease ISO RGD:1350928 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064310 Ctss cathepsin S gene DOID:870 neuropathy onset ISO RGD:1350928 D RGD:9068941 20200609 RGD associated with multiple myeloma;DNA:SNP:intron:c.249+541C>T (rs12568757) (human) PMID:21228734|REF_RGD_ID:5686916 9064310 Ctss cathepsin S gene DOID:9000039 Spinal Cord Injuries ISO RGD:621513 D RGD:9068941 20200609 RGD PMID:16344894|REF_RGD_ID:2303423 9064310 Ctss cathepsin S gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1350928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9064310 Ctss cathepsin S gene DOID:9002211 Hyperalgesia ISO RGD:621513 D RGD:9068941 20200609 RGD associated with Arthritis, Experimental PMID:22213084|REF_RGD_ID:5686870 9064310 Ctss cathepsin S gene DOID:9002211 Hyperalgesia ISO RGD:731651 D RGD:9068941 20200609 RGD associated with Colitis PMID:21802389|REF_RGD_ID:5686873 9064310 Ctss cathepsin S gene DOID:9002457 Experimental Arthritis ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:21439785|REF_RGD_ID:5686915 9064310 Ctss cathepsin S gene DOID:9002605 Delayed Hypersensitivity ISO RGD:1350928 D RGD:9068941 20200609 RGD PMID:16631730|REF_RGD_ID:5687149 9064310 Ctss cathepsin S gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:21439785|REF_RGD_ID:5686915 9064310 Ctss cathepsin S gene DOID:9004001 Facial Nerve Injuries ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:17539023|REF_RGD_ID:5686912 9064310 Ctss cathepsin S gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1350928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19700239 9064310 Ctss cathepsin S gene DOID:9005968 Neuralgia ISO RGD:621513 D RGD:9068941 20200609 RGD PMID:17551020|PMID:18700000|REF_RGD_ID:5686878|REF_RGD_ID:5686911 9064310 Ctss cathepsin S gene DOID:9006487 Reoviridae Infections ISO RGD:731651 D RGD:9068941 20200609 RGD PMID:19640986|REF_RGD_ID:5686877 9064310 Ctss cathepsin S gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1350928 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9064310 Ctss cathepsin S gene DOID:9970 obesity ISO RGD:1350928 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21156398 9064325 Zbtb7c zinc finger and BTB domain containing 7C gene DOID:1059 intellectual disability ISO RGD:1606940 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9064325 Zbtb7c zinc finger and BTB domain containing 7C gene DOID:630 genetic disease ISO RGD:1606940 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064388 Gls2 glutaminase 2 gene DOID:630 genetic disease ISO RGD:1604019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064388 Gls2 glutaminase 2 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604019 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9064416 Slc12a1 solute carrier family 12 member 1 gene DOID:0050450 Gitelman syndrome ISO RGD:731943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia PMID:8640224 9064416 Slc12a1 solute carrier family 12 member 1 gene DOID:0110142 Bartter disease type 1 ISO RGD:731943 D RGD:7240710 20180130 OMIM 9064416 Slc12a1 solute carrier family 12 member 1 gene DOID:0110142 Bartter disease type 1 ISO RGD:731943 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bartter disease type 1 PMID:12761241|PMID:15167446|PMID:16199547|PMID:17576681|PMID:18391953|PMID:19096086|PMID:19513753|PMID:19602640|PMID:20219833|PMID:21157372|PMID:21209010|PMID:23897314|PMID:24033266|PMID:24253496|PMID:24550759|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26963954|PMID:28000888|PMID:28095294|PMID:28492532|PMID:28893421|PMID:29398133|PMID:29527380|PMID:29942493|PMID:30076350|PMID:30113482|PMID:31625567|PMID:32997713|PMID:33532864|PMID:33973684|PMID:35348259|PMID:35628451|PMID:36092934|PMID:8640224|PMID:9355073|PMID:9536098|PMID:9585600 9064416 Slc12a1 solute carrier family 12 member 1 gene DOID:0110144 Bartter disease type 3 ISO RGD:731943 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Bartter disease type 3 PMID:25741868 9064416 Slc12a1 solute carrier family 12 member 1 gene DOID:12679 nephrocalcinosis ISO RGD:731943 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:17998760|PMID:18391953|PMID:19096086|PMID:28492532|PMID:28893421|PMID:8640224|PMID:9585600 9064416 Slc12a1 solute carrier family 12 member 1 gene DOID:14323 Marfan syndrome ISO RGD:731943 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21063442|PMID:25741868|PMID:26787436|PMID:28492532 9064416 Slc12a1 solute carrier family 12 member 1 gene DOID:2717 Bloom syndrome ISO RGD:731943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9064416 Slc12a1 solute carrier family 12 member 1 gene DOID:445 Bartter disease ISO RGD:731943 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bartter syndrome PMID:16199547|PMID:19096086|PMID:28492532|PMID:29398133|PMID:35358470|PMID:36092934|PMID:8640224|PMID:9585600 9064416 Slc12a1 solute carrier family 12 member 1 gene DOID:630 genetic disease ISO RGD:731943 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:19096086|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35358470|PMID:8640224|PMID:9585600 9064416 Slc12a1 solute carrier family 12 member 1 gene DOID:9001276 Failure to Thrive ISO RGD:731943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Failure to thrive PMID:25741868|PMID:28492532 9064416 Slc12a1 solute carrier family 12 member 1 gene DOID:9256 colorectal cancer ISO RGD:731943 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9064460 Rbm22 RNA binding motif protein 22 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1314003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9064460 Rbm22 RNA binding motif protein 22 gene DOID:630 genetic disease ISO RGD:1314003 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064460 Rbm22 RNA binding motif protein 22 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1314003 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9064475 Slc26a8 solute carrier family 26 member 8 gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1347727 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9064475 Slc26a8 solute carrier family 26 member 8 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1347727 D RGD:7240710 20180130 OMIM 9064475 Slc26a8 solute carrier family 26 member 8 gene DOID:0070168 spermatogenic failure 3 ISO RGD:1347727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 3 PMID:23582645|PMID:25741868|PMID:28492532|PMID:34923715 9064475 Slc26a8 solute carrier family 26 member 8 gene DOID:5419 schizophrenia ISO RGD:1347727 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21822266 9064475 Slc26a8 solute carrier family 26 member 8 gene DOID:630 genetic disease ISO RGD:1347727 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064500 Hdac8 histone deacetylase 8 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9064500 Hdac8 histone deacetylase 8 gene DOID:0060814 Wilson-Turner syndrome ISO RGD:1344478 D RGD:9068941 20200609 RGD DNA:snp:intron:c.164+5G>A (human) PMID:22889856|REF_RGD_ID:13208817 9064500 Hdac8 histone deacetylase 8 gene DOID:0080505 Cornelia de Lange syndrome 1 ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868|PMID:26671848|PMID:30158690 9064500 Hdac8 histone deacetylase 8 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1344478 D RGD:7240710 20180130 OMIM 9064500 Hdac8 histone deacetylase 8 gene DOID:0080509 Cornelia de Lange syndrome 5 ISO RGD:1344478 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 | ClinVar Annotator: match by term: HDAC8-related condition PMID:16199547|PMID:17576681|PMID:18414213|PMID:19605684|PMID:21320778|PMID:22885700|PMID:22889856|PMID:24038889|PMID:24088041|PMID:24375697|PMID:24403048|PMID:25075551|PMID:25102094|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25574841|PMID:25640679|PMID:25741868|PMID:25805374|PMID:26463496|PMID:26633545|PMID:26671848|PMID:26725122|PMID:27159028|PMID:28492532|PMID:29293505|PMID:30158690|PMID:9536098 9064500 Hdac8 histone deacetylase 8 gene DOID:10487 Hirschsprung's disease ISO RGD:1344478 D RGD:9068941 20200609 RGD protein:decreased expression:colon (human) PMID:16771768|REF_RGD_ID:13208819 9064500 Hdac8 histone deacetylase 8 gene DOID:1059 intellectual disability ISO RGD:1344478 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22885700|PMID:24038889|PMID:24403048|PMID:25741868|PMID:26671848|PMID:26725122|PMID:27159028|PMID:28492532 9064500 Hdac8 histone deacetylase 8 gene DOID:10763 hypertension ISO RGD:1558090 D RGD:9068941 20200609 RGD protein:decreased expression:heart (mouse, rat) PMID:28567090|REF_RGD_ID:13208602 9064500 Hdac8 histone deacetylase 8 gene DOID:10763 hypertension ISO RGD:1562895 D RGD:9068941 20200609 RGD protein:decreased expression:heart (mouse, rat) PMID:28567090|REF_RGD_ID:13208602 9064500 Hdac8 histone deacetylase 8 gene DOID:12849 autistic disorder ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9064500 Hdac8 histone deacetylase 8 gene DOID:1591 renovascular hypertension treatment ISO RGD:1562895 D RGD:9068941 20200609 RGD PMID:27673327|REF_RGD_ID:13208809 9064500 Hdac8 histone deacetylase 8 gene DOID:1882 atrial heart septal defect ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial septal defect PMID:25741868 9064500 Hdac8 histone deacetylase 8 gene DOID:3083 chronic obstructive pulmonary disease severity ISO RGD:1344478 D RGD:9068941 20200609 RGD mRNA:decreased expression:lung (human) PMID:15888697|REF_RGD_ID:13208820 9064500 Hdac8 histone deacetylase 8 gene DOID:630 genetic disease ISO RGD:1344478 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15146185|PMID:15146186|PMID:17640042|PMID:18414213|PMID:19886810|PMID:21320778|PMID:22885700|PMID:22889856|PMID:24038889|PMID:24403048|PMID:24718998|PMID:25075551|PMID:25209348|PMID:25741868|PMID:26463496|PMID:26671848|PMID:26725122|PMID:27159028|PMID:28492532|PMID:30158690 9064500 Hdac8 histone deacetylase 8 gene DOID:670 amphetamine abuse ISO RGD:1562895 D RGD:9068941 20200609 RGD mRNA:decreased expression:striatum (rat) PMID:25452209|REF_RGD_ID:9681719 9064500 Hdac8 histone deacetylase 8 gene DOID:8445 intestinal volvulus ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL PMID:25741868 9064500 Hdac8 histone deacetylase 8 gene DOID:9000924 Gastrointestinal Motility Disorders ISO RGD:1344478 D RGD:9068941 20200609 RGD protein:decreased expression:colon (human) PMID:16771768|REF_RGD_ID:13208819 9064500 Hdac8 histone deacetylase 8 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1558090 D RGD:9068941 20200609 RGD PMID:25504627|REF_RGD_ID:13208811 9064500 Hdac8 histone deacetylase 8 gene DOID:9003936 Cardiomegaly treatment ISO RGD:1562895 D RGD:9068941 20200609 RGD associated with Hypertension PMID:23868068|REF_RGD_ID:9681716 9064500 Hdac8 histone deacetylase 8 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9064500 Hdac8 histone deacetylase 8 gene DOID:9008086 Developmental Disabilities ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:26671848 9064500 Hdac8 histone deacetylase 8 gene DOID:9008419 Volvulus Of Midgut ISO RGD:1344478 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Volvulus of midgut PMID:25741868 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:0060565 Ritscher-Schinzel syndrome ISO RGD:1352329 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:0060571 Ritscher-Schinzel syndrome 1 ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 1 PMID:19377476|PMID:21826058|PMID:24916641|PMID:31971710 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:0060572 Ritscher-Schinzel syndrome 2 ISO RGD:1352329 D RGD:7240710 20180130 OMIM 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:0060572 Ritscher-Schinzel syndrome 2 ISO RGD:1352329 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CCDC22-related condition | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 PMID:19377476|PMID:21826058|PMID:23563313|PMID:24916641|PMID:25644381|PMID:25741868|PMID:28492532|PMID:31971710 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:0070265 congenital disorder of glycosylation type IIm ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG PMID:28492532 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ISO RGD:1352329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome PMID:11137992|PMID:11137993|PMID:19471859|PMID:28492532|PMID:30443250 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:0110739 neurodegeneration with brain iron accumulation 5 ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration PMID:28492532 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders ISO RGD:1352329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:0112128 X-linked severe congenital neutropenia ISO RGD:1352329 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:28492532 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:1059 intellectual disability ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:12849 autistic disorder ISO RGD:1352329 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9064526 Ccdc22 coiled-coil domain containing 22 gene DOID:630 genetic disease ISO RGD:1352329 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21826058|PMID:23563313|PMID:24916641|PMID:25741868|PMID:28492532 9064547 Ddx4 DEAD-box helicase 4 gene DOID:630 genetic disease ISO RGD:1318770 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064547 Ddx4 DEAD-box helicase 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1318770 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9064580 Nphp4 nephrocystin 4 gene DOID:0050576 Senior-Loken syndrome ISO RGD:1351118 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia PMID:25741868|PMID:28492532 9064580 Nphp4 nephrocystin 4 gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1351118 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9064580 Nphp4 nephrocystin 4 gene DOID:0080205 CAKUT ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:28492532|PMID:30143558 9064580 Nphp4 nephrocystin 4 gene DOID:0080301 atypical hemolytic-uremic syndrome ISO RGD:1351118 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome PMID:25741868|PMID:28492532 9064580 Nphp4 nephrocystin 4 gene DOID:0110999 Joubert syndrome 4 ISO RGD:1351118 D RGD:9068941 20200609 RGD DNA:mutations:exon, intron:multiple PMID:15776426|REF_RGD_ID:11068164 9064580 Nphp4 nephrocystin 4 gene DOID:0111112 nephronophthisis 1 ISO RGD:1351118 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12205563|PMID:12244321|PMID:15776426|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23217326|PMID:23559409|PMID:25741868|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558 9064580 Nphp4 nephrocystin 4 gene DOID:0111115 nephronophthisis 4 ISO RGD:1351118 D RGD:7240710 20180130 OMIM 9064580 Nphp4 nephrocystin 4 gene DOID:0111115 nephronophthisis 4 ISO RGD:1351118 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:33532864|PMID:34295353|PMID:9536098 9064580 Nphp4 nephrocystin 4 gene DOID:10584 retinitis pigmentosa ISO RGD:1351118 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:34906470 9064580 Nphp4 nephrocystin 4 gene DOID:12712 nephronophthisis ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:6837691|PMID:9536098 9064580 Nphp4 nephrocystin 4 gene DOID:12712 nephronophthisis ISO RGD:1351118 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:6837691|PMID:9536098 9064580 Nphp4 nephrocystin 4 gene DOID:12712 nephronophthisis ISO RGD:1351118 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:34850017|PMID:36090483|PMID:6837691|PMID:9536098 9064580 Nphp4 nephrocystin 4 gene DOID:1312 focal segmental glomerulosclerosis ISO RGD:1351118 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 9064580 Nphp4 nephrocystin 4 gene DOID:13580 cholestasis ISO RGD:1351118 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cholestasis PMID:15776426|PMID:22550138|PMID:25741868|PMID:28492532|PMID:28700940 9064580 Nphp4 nephrocystin 4 gene DOID:14791 Leber congenital amaurosis ISO RGD:1351118 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25445212|PMID:25741868|PMID:26920127|PMID:28492532 9064580 Nphp4 nephrocystin 4 gene DOID:1682 congenital heart disease ISO RGD:1351118 D RGD:9068941 20200609 RGD DNA:missense mutations: :multiple PMID:22550138|REF_RGD_ID:11537354 9064580 Nphp4 nephrocystin 4 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1351118 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15776426|PMID:25741868|PMID:28492532 9064580 Nphp4 nephrocystin 4 gene DOID:5223 infertility ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Infertility PMID:12205563|PMID:12244321|PMID:23559409|PMID:25558065|PMID:28492532 9064580 Nphp4 nephrocystin 4 gene DOID:557 kidney disease ISO RGD:1351118 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:12205563|PMID:15776426|PMID:21546380|PMID:22550138|PMID:22773737|PMID:23217326|PMID:23559409|PMID:25741868|PMID:28492532|PMID:28700940|PMID:29127258 9064580 Nphp4 nephrocystin 4 gene DOID:630 genetic disease ISO RGD:1351118 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9064580 Nphp4 nephrocystin 4 gene DOID:8501 fundus dystrophy ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15776426|PMID:21068128|PMID:21546380|PMID:25741868|PMID:28492532 9064580 Nphp4 nephrocystin 4 gene DOID:9000511 Senior-Loken Syndrome 4 ISO RGD:1351118 D RGD:7240710 20180130 OMIM 9064580 Nphp4 nephrocystin 4 gene DOID:9000511 Senior-Loken Syndrome 4 ISO RGD:1351118 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25741868|PMID:26346198|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:34295353|PMID:6837691|PMID:9536098 9064580 Nphp4 nephrocystin 4 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351118 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9064652 Nfu1 NFU1 iron-sulfur cluster scaffold gene DOID:0070330 multiple mitochondrial dysfunctions syndrome ISO RGD:1317241 D RGD:8554872 20220621 ClinVar ClinVar Annotator: match by term: Fatal multiple mitochondrial dysfunctions syndrome 9064652 Nfu1 NFU1 iron-sulfur cluster scaffold gene DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 ISO RGD:1317241 D RGD:7240710 20180130 OMIM 9064652 Nfu1 NFU1 iron-sulfur cluster scaffold gene DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 ISO RGD:1317241 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 1 | ClinVar Annotator: match by term: NFU1-related condition PMID:11156534|PMID:16199547|PMID:17576681|PMID:21944046|PMID:22077971|PMID:24033266|PMID:25477904|PMID:25640679|PMID:25741868|PMID:25758857|PMID:25918518|PMID:28161430|PMID:28470589|PMID:28492532|PMID:28803783|PMID:29441221|PMID:31461310|PMID:31970900|PMID:32776106|PMID:9536098 9064652 Nfu1 NFU1 iron-sulfur cluster scaffold gene DOID:630 genetic disease ISO RGD:1317241 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9064667 Zdhhc21 zinc finger DHHC-type palmitoyltransferase 21 gene DOID:630 genetic disease ISO RGD:1313969 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064683 Cldn23 claudin 23 gene DOID:3310 atopic dermatitis ISO RGD:1319100 D RGD:9068941 20200609 RGD mRNA:decreased expression:epidermis: PMID:21163515|REF_RGD_ID:11344875 9064683 Cldn23 claudin 23 gene DOID:630 genetic disease ISO RGD:1319100 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064683 Cldn23 claudin 23 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1319100 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9064688 Atxn2l ataxin 2 like gene DOID:0050692 Brody myopathy ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brody myopathy PMID:17882224|PMID:24707176|PMID:28492532 9064688 Atxn2l ataxin 2 like gene DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb ISO RGD:1604832 D RGD:8554872 20231226 ClinVar ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome 9064688 Atxn2l ataxin 2 like gene DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome PMID:25741868|PMID:31690835|PMID:32238909 9064688 Atxn2l ataxin 2 like gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:28542676|PMID:9311735 9064688 Atxn2l ataxin 2 like gene DOID:5419 schizophrenia ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9064688 Atxn2l ataxin 2 like gene DOID:630 genetic disease ISO RGD:1604832 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064688 Atxn2l ataxin 2 like gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1604832 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9064714 Pla2g2f phospholipase A2 group IIF gene DOID:0060369 Parkinson's disease 6 ISO RGD:1322150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:28492532 9064714 Pla2g2f phospholipase A2 group IIF gene DOID:0060410 chromosome 1p36 deletion syndrome ISO RGD:1322150 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome 9064714 Pla2g2f phospholipase A2 group IIF gene DOID:0080543 hyperprolinemia type 2 ISO RGD:1322150 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hyperprolinemia type 2 PMID:28492532 9064714 Pla2g2f phospholipase A2 group IIF gene DOID:0080569 congenital disorder of glycosylation Ir ISO RGD:1322150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 9064714 Pla2g2f phospholipase A2 group IIF gene DOID:630 genetic disease ISO RGD:1322150 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064714 Pla2g2f phospholipase A2 group IIF gene DOID:9006234 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency ISO RGD:1322150 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:28492532 9064728 CUNH2orf66 chromosome unknown C2orf66 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602399 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9064744 Rad54l2 RAD54 like 2 gene DOID:630 genetic disease ISO RGD:1604389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064773 Tlr3 toll like receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:1343581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25255310 9064773 Tlr3 toll like receptor 3 gene DOID:0060180 colitis ISO RGD:735171 D RGD:9068941 20200609 RGD mRNA:increased expression:large intestine mucosa (rat) PMID:20011045|REF_RGD_ID:5128708 9064773 Tlr3 toll like receptor 3 gene DOID:0080711 multisystem inflammatory syndrome in children ISO RGD:1343581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children PMID:26513235|PMID:28368532|PMID:28492532 9064773 Tlr3 toll like receptor 3 gene DOID:10140 dry eye syndrome ISO RGD:1553513 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:cornea,conjunctiva: PMID:23372055|REF_RGD_ID:8552916 9064773 Tlr3 toll like receptor 3 gene DOID:10591 pre-eclampsia ISO RGD:735171 D RGD:9068941 20200609 RGD protein:increased expression:placenta (rat) PMID:19779466|REF_RGD_ID:5128769 9064773 Tlr3 toll like receptor 3 gene DOID:10873 Kuhnt-Junius degeneration ISO RGD:1343581 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood mononuclear cell: PMID:23946637|REF_RGD_ID:8552827 9064773 Tlr3 toll like receptor 3 gene DOID:11166 papillomavirus infectious disease resistance ISO RGD:1343581 D RGD:9068941 20200609 RGD mRNA:increased expression:cervix epithelium (human) PMID:20473890|REF_RGD_ID:5129102 9064773 Tlr3 toll like receptor 3 gene DOID:11168 anogenital venereal wart ISO RGD:1343581 D RGD:9068941 20201105 RGD mRNA,protein:increased expression:multiple (human) PMID:23754510|REF_RGD_ID:40400714 9064773 Tlr3 toll like receptor 3 gene DOID:11394 adult respiratory distress syndrome ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:18849495|REF_RGD_ID:5129134 9064773 Tlr3 toll like receptor 3 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:16424225|REF_RGD_ID:5129224 9064773 Tlr3 toll like receptor 3 gene DOID:12849 autistic disorder ISO RGD:1343581 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9064773 Tlr3 toll like receptor 3 gene DOID:13241 Behcet's disease ISO RGD:1343581 D RGD:9068941 20200609 RGD protein,mRNA:increased expression:peripheral blood mononuclear cell PMID:23908180|REF_RGD_ID:8552883 9064773 Tlr3 toll like receptor 3 gene DOID:1520 colon carcinoma ISO RGD:1343581 D RGD:9068941 20200609 RGD protein:increased expression:colon PMID:23467704|REF_RGD_ID:21079438 9064773 Tlr3 toll like receptor 3 gene DOID:1883 hepatitis C ISO RGD:1343581 D RGD:9068941 20200609 RGD associated with glomerulonephritis;mRNA:increased expression:liver: PMID:21623661|REF_RGD_ID:7175316 9064773 Tlr3 toll like receptor 3 gene DOID:1883 hepatitis C disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNPs: :rs3775290,rs3775291,rs5743312 (human) PMID:29947302|REF_RGD_ID:21079437 9064773 Tlr3 toll like receptor 3 gene DOID:1883 hepatitis C severity ISO RGD:1343581 D RGD:9068941 20200609 RGD associated with liver transplant;DNP:SNP:cds:p.Leu412Phe(human) PMID:27101936|REF_RGD_ID:21079429 9064773 Tlr3 toll like receptor 3 gene DOID:1883 hepatitis C susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Leu412Phe(human) PMID:23240626|REF_RGD_ID:21079422 9064773 Tlr3 toll like receptor 3 gene DOID:2043 hepatitis B disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNPs, haplotype: rs3775291,rs5743305 (human) PMID:30143709|REF_RGD_ID:21079424 9064773 Tlr3 toll like receptor 3 gene DOID:2043 hepatitis B susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: rs1879026(human) PMID:22825813|REF_RGD_ID:21079431 9064773 Tlr3 toll like receptor 3 gene DOID:2365 West Nile encephalitis ISO RGD:1553513 D RGD:9068941 20210423 RGD mRNA:increased expression:brain PMID:24173226|REF_RGD_ID:126781836 9064773 Tlr3 toll like receptor 3 gene DOID:2841 asthma ISO RGD:1343581 D RGD:9068941 20200609 RGD Asthma, Virus-Induced; mRNA:increased expression:sputum (human) PMID:21129050|REF_RGD_ID:5129226 9064773 Tlr3 toll like receptor 3 gene DOID:2841 asthma ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snp:cds:p.L412F (human) PMID:17434873|REF_RGD_ID:5129478 9064773 Tlr3 toll like receptor 3 gene DOID:2841 asthma ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:17610940|REF_RGD_ID:5129475 9064773 Tlr3 toll like receptor 3 gene DOID:2841 asthma ISO RGD:735171 D RGD:9068941 20200609 RGD PMID:21364926|REF_RGD_ID:5128500 9064773 Tlr3 toll like receptor 3 gene DOID:2841 asthma no_association ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snp:cds:p.L412F (human) PMID:14987294|REF_RGD_ID:5129493 9064773 Tlr3 toll like receptor 3 gene DOID:3492 mixed connective tissue disease ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:16453294|REF_RGD_ID:5129221 9064773 Tlr3 toll like receptor 3 gene DOID:4724 brain edema ISO RGD:1343581 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cerebral edema PMID:25741868 9064773 Tlr3 toll like receptor 3 gene DOID:4989 pancreatitis ISO RGD:735171 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:21342497|REF_RGD_ID:5128695 9064773 Tlr3 toll like receptor 3 gene DOID:5082 liver cirrhosis susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snp: :rs3775290(human) PMID:26024592|REF_RGD_ID:21079416 9064773 Tlr3 toll like receptor 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343581 D RGD:7240710 20240221 OMIM 9064773 Tlr3 toll like receptor 3 gene DOID:526 human immunodeficiency virus infectious disease ISO RGD:1343581 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to PMID:17872438|PMID:19625408|PMID:20472559|PMID:20855885|PMID:21911422|PMID:22174453|PMID:24033266|PMID:25339207|PMID:25741868|PMID:26193622|PMID:28046022|PMID:28492532|PMID:29217828|PMID:29305044|PMID:31217193|PMID:33174085|PMID:34813006 9064773 Tlr3 toll like receptor 3 gene DOID:5614 eye disease ISO RGD:1343581 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:nasal cavity mucosa: PMID:16146574|REF_RGD_ID:8552913 9064773 Tlr3 toll like receptor 3 gene DOID:574 peripheral nervous system disease ISO RGD:735171 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord dorsal horn (rat) PMID:20638911|REF_RGD_ID:5129232 9064773 Tlr3 toll like receptor 3 gene DOID:630 genetic disease ISO RGD:1343581 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9064773 Tlr3 toll like receptor 3 gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD PMID:23197495|REF_RGD_ID:21079421 9064773 Tlr3 toll like receptor 3 gene DOID:7188 autoimmune thyroiditis ISO RGD:1343581 D RGD:9068941 20200609 RGD protein:increased expression:thyroid gland (human) PMID:15661832|REF_RGD_ID:5128798 9064773 Tlr3 toll like receptor 3 gene DOID:8677 perinatal necrotizing enterocolitis ISO RGD:735171 D RGD:9068941 20200609 RGD mRNA:increased expression:ileum (rat) PMID:19608731|REF_RGD_ID:5128779 9064773 Tlr3 toll like receptor 3 gene DOID:8729 milker's nodule severity ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:18097050|REF_RGD_ID:5129216 9064773 Tlr3 toll like receptor 3 gene DOID:9000238 Acute-On-Chronic Liver Failure susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD associated with Hepatitis B, Chronic; DNA:SNP: :1234C>T (human) PMID:23076446|REF_RGD_ID:21079425 9064773 Tlr3 toll like receptor 3 gene DOID:9000972 Fever ISO RGD:1343581 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:28726298 9064773 Tlr3 toll like receptor 3 gene DOID:9001004 Chronic Periodontitis severity ISO RGD:1343581 D RGD:9068941 20200609 RGD protein:increased expression:gingiva: PMID:21848608|REF_RGD_ID:7794852 9064773 Tlr3 toll like receptor 3 gene DOID:9001285 Alcoholic Liver Diseases treatment ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:23023014|PMID:30870678|REF_RGD_ID:21079426|REF_RGD_ID:21079436 9064773 Tlr3 toll like receptor 3 gene DOID:9001310 Tobacco Use Disorder ISO RGD:1343581 D RGD:9068941 20200609 RGD mRNA:decreased expression:olfactory epithelial cell (human) PMID:20935192|REF_RGD_ID:5129228 9064773 Tlr3 toll like receptor 3 gene DOID:9001488 Human Influenza ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:18654661|REF_RGD_ID:5129136 9064773 Tlr3 toll like receptor 3 gene DOID:9001488 Human Influenza ISO RGD:1553513 D RGD:9068941 20200609 RGD mRNA:increased expression:lung (mouse) PMID:16789835|REF_RGD_ID:5129219 9064773 Tlr3 toll like receptor 3 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:27178735|REF_RGD_ID:21079415 9064773 Tlr3 toll like receptor 3 gene DOID:9001981 Weight Loss ISO RGD:1343581 D RGD:9068941 20201218 CTD CTD Direct Evidence: marker/mechanism PMID:28726298 9064773 Tlr3 toll like receptor 3 gene DOID:9002287 Respiratory Tract Granuloma ISO RGD:1553513 D RGD:9068941 20200609 RGD PMID:19009529|REF_RGD_ID:5129133 9064773 Tlr3 toll like receptor 3 gene DOID:9003870 Herpes Simplex Encephalitis ISO RGD:1343581 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9064773 Tlr3 toll like receptor 3 gene DOID:9004009 Reperfusion Injury ISO RGD:735171 D RGD:9068941 20200609 RGD protein:increased expression:liver (rat) PMID:21355876|REF_RGD_ID:5128693 9064773 Tlr3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP: :rs13126816 (human) PMID:23220997|REF_RGD_ID:21079430 9064773 Tlr3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C disease_progression ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP: :rs3775290(human) PMID:29860675|REF_RGD_ID:21079428 9064773 Tlr3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:1343581 D RGD:9068941 20200609 RGD PMID:28480979|REF_RGD_ID:21079435 9064773 Tlr3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP: :rs3775290(human) PMID:30321082|REF_RGD_ID:21079427 9064773 Tlr3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP:cds:p.Leu412Phe(human) PMID:23240626|REF_RGD_ID:21079422 9064773 Tlr3 toll like receptor 3 gene DOID:9004017 Chronic Hepatitis C treatment ISO RGD:1343581 D RGD:9068941 20200609 RGD treatment:peginterferon plus ribavirin. PMID:19674283|REF_RGD_ID:21079423 9064773 Tlr3 toll like receptor 3 gene DOID:9008103 Seasonal Allergic Rhinitis ISO RGD:1343581 D RGD:9068941 20200609 RGD protein:decreased expression:bone marrow, blood, eosinophil (human) PMID:19752565|REF_RGD_ID:5129130 9064773 Tlr3 toll like receptor 3 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:SNP, haplotype: :1234C>T (human) PMID:23076446|REF_RGD_ID:21079425 9064773 Tlr3 toll like receptor 3 gene DOID:9008163 Chronic Hepatitis B susceptibility ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snp: :rs3775290(human) PMID:26024592|REF_RGD_ID:21079416 9064773 Tlr3 toll like receptor 3 gene DOID:9009070 Herpes Simplex Encephalitis 1 ISO RGD:1343581 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 PMID:15042513|PMID:17434873|PMID:17576681|PMID:17872438|PMID:19625408|PMID:19763152|PMID:20307669|PMID:20472559|PMID:20855885|PMID:21911422|PMID:22174453|PMID:22406018|PMID:24033266|PMID:25118264|PMID:25339207|PMID:25629076|PMID:25741868|PMID:26193622|PMID:26513235|PMID:27872624|PMID:28046022|PMID:28368532|PMID:28492532|PMID:29217828|PMID:29305044|PMID:31217193|PMID:31268141|PMID:32936395|PMID:33174085|PMID:34813006|PMID:9536098 9064773 Tlr3 toll like receptor 3 gene DOID:9009130 Immunodeficiency 83 ISO RGD:1343581 D RGD:7240710 20240221 OMIM 9064773 Tlr3 toll like receptor 3 gene DOID:9009130 Immunodeficiency 83 ISO RGD:1343581 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections PMID:17872438|PMID:19625408|PMID:20472559|PMID:20855885|PMID:21911422|PMID:22174453|PMID:24033266|PMID:25339207|PMID:25741868|PMID:26193622|PMID:26513235|PMID:28046022|PMID:28368532|PMID:28492532|PMID:29217828|PMID:29305044|PMID:31217193|PMID:31268141|PMID:32936395|PMID:33174085|PMID:34813006 9064773 Tlr3 toll like receptor 3 gene DOID:9744 type 1 diabetes mellitus ISO RGD:1343581 D RGD:9068941 20200609 RGD DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human) PMID:16029432|REF_RGD_ID:5129476 9064773 Tlr3 toll-like receptor 3 gene DOID:9002457 Experimental Arthritis ISO RGD:735171 D RGD:9068941 20200609 RGD PMID:20500834|REF_RGD_ID:5128706 9064795 S100z S100 calcium binding protein Z gene DOID:0060540 Hermansky-Pudlak syndrome 2 ISO RGD:1348648 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:16507770|PMID:23403622|PMID:28492532 9064795 S100z S100 calcium binding protein Z gene DOID:630 genetic disease ISO RGD:1348648 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064795 S100z S100 calcium binding protein Z gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348648 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9064812 Wnt11 Wnt family member 11 gene DOID:0050866 oral squamous cell carcinoma susceptibility ISO RGD:1344477 D RGD:9068941 20211217 RGD DNA:SNP:exon: A>G (rs1533767) (human) PMID:21393552|REF_RGD_ID:150530486 9064812 Wnt11 Wnt family member 11 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1344477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 9064812 Wnt11 Wnt family member 11 gene DOID:1059 intellectual disability ISO RGD:1344477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9064812 Wnt11 Wnt family member 11 gene DOID:10892 hypospadias ISO RGD:1344477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypospadias PMID:25741868 9064812 Wnt11 Wnt family member 11 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1344477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 9064812 Wnt11 Wnt family member 11 gene DOID:4450 renal cell carcinoma ISO RGD:1344477 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:increased in a single case PMID:11712081|REF_RGD_ID:2299947 9064812 Wnt11 Wnt family member 11 gene DOID:630 genetic disease ISO RGD:1344477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064812 Wnt11 Wnt family member 11 gene DOID:9002304 Prostatic Neoplasms disease_progression ISO RGD:1344477 D RGD:9068941 20200609 RGD mRNA:increased expression:tumor:increased expression in 4/4 cases with Gleason sum score >= 7, also in progression from androgen-dependence to androgen-independence in xenografts PMID:15520198|REF_RGD_ID:2299946 9064812 Wnt11 Wnt family member 11 gene DOID:9006205 Animal Disease Models ISO RGD:1344477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 9064812 Wnt11 Wnt family member 11 gene DOID:9007828 Abnormalities, Drug-Induced ISO RGD:1344477 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25783350 9064832 P2ry4 pyrimidinergic receptor P2Y4 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9064832 P2ry4 pyrimidinergic receptor P2Y4 gene DOID:12849 autistic disorder ISO RGD:731552 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9064832 P2ry4 pyrimidinergic receptor P2Y4 gene DOID:1826 epilepsy ISO RGD:731552 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9064832 P2ry4 pyrimidinergic receptor P2Y4 gene DOID:630 genetic disease ISO RGD:731552 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0060017 CD3epsilon deficiency ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: CD3epsilon deficiency PMID:28492532 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0060058 lymphoma ISO RGD:733676 D RGD:9068941 20200609 RGD DNA:translocation:intron:t(ll;14)(q23;q32) (human) PMID:11983068|REF_RGD_ID:4107059 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0060837 isolated microphthalmia 5 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:28492532 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0080690 RASopathy ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0110899 inflammatory bowel disease 28 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:28492532 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0111123 nephronophthisis 15 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:22863007|PMID:28125082|PMID:28492532|PMID:32367404|PMID:34132027|PMID:34499853 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0111971 immunodeficiency 18 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 18 PMID:28492532 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0111972 immunodeficiency 19 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 19 PMID:28492532 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:0111973 immunodeficiency 17 ISO RGD:733676 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient PMID:28492532 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:1059 intellectual disability ISO RGD:733676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:630 genetic disease ISO RGD:733676 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:733676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9064854 Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 gene DOID:9007661 Dwarfism ISO RGD:733676 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9064864 Asb17 ankyrin repeat and SOCS box containing 17 gene DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency ISO RGD:1343895 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 9064864 Asb17 ankyrin repeat and SOCS box containing 17 gene DOID:630 genetic disease ISO RGD:1343895 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064875 Cse1l chromosome segregation 1 like gene DOID:0080461 developmental and epileptic encephalopathy 26 ISO RGD:1316788 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 PMID:28492532 9064875 Cse1l chromosome segregation 1 like gene DOID:630 genetic disease ISO RGD:1316788 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064875 Cse1l chromosome segregation 1 like gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1316788 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:34022224 9064904 Sptlc3 serine palmitoyltransferase long chain base subunit 3 gene DOID:2491 sensory peripheral neuropathy ISO RGD:1351339 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Sensory neuropathy PMID:23806086|PMID:24088041|PMID:26257172 9064904 Sptlc3 serine palmitoyltransferase long chain base subunit 3 gene DOID:630 genetic disease ISO RGD:1351339 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064934 Nbeal1 neurobeachin like 1 gene DOID:0081144 common variable immunodeficiency 1 ISO RGD:1349211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 9064934 Nbeal1 neurobeachin like 1 gene DOID:0110116 autoimmune lymphoproliferative syndrome type 2B ISO RGD:1349211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 9064934 Nbeal1 neurobeachin like 1 gene DOID:1059 intellectual disability ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9064934 Nbeal1 neurobeachin like 1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary pulmonary hypertension PMID:28492532|PMID:31727138 9064934 Nbeal1 neurobeachin like 1 gene DOID:3393 coronary artery disease ISO RGD:1349211 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:34961328 9064934 Nbeal1 neurobeachin like 1 gene DOID:630 genetic disease ISO RGD:1349211 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9064934 Nbeal1 neurobeachin like 1 gene DOID:9001820 Pulmonary Arterial Hypertension ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 9064934 Nbeal1 neurobeachin like 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1349211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9064934 Nbeal1 neurobeachin like 1 gene DOID:9007445 Autoimmune Lymphoproliferative Syndrome, Type V ISO RGD:1349211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V PMID:11343122|PMID:12353035|PMID:12577056|PMID:19380800|PMID:25213377|PMID:25329329|PMID:25814141|PMID:28492532|PMID:29729943|PMID:30326257 9064934 Nbeal1 neurobeachin like 1 gene DOID:9009117 Primary Pulmonary Hypertension, 1 ISO RGD:1349211 D RGD:8554872 20230815 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:32581362 9064995 Lmf2 lipase maturation factor 2 gene DOID:0060041 autism spectrum disorder ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310 9064995 Lmf2 lipase maturation factor 2 gene DOID:0060437 chromosome 22q13 duplication syndrome ISO RGD:1606481 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome PMID:31690835 9064995 Lmf2 lipase maturation factor 2 gene DOID:0080354 Phelan-McDermid syndrome ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Phelan-McDermid syndrome 9064995 Lmf2 lipase maturation factor 2 gene DOID:0080559 congenital disorder of glycosylation Ig ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation PMID:15639192|PMID:28492532|PMID:31481313 9064995 Lmf2 lipase maturation factor 2 gene DOID:0110632 megaconial type congenital muscular dystrophy ISO RGD:1606481 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy PMID:21665002|PMID:28492532 9064995 Lmf2 lipase maturation factor 2 gene DOID:10581 metachromatic leukodystrophy ISO RGD:1606481 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139 9064995 Lmf2 lipase maturation factor 2 gene DOID:1059 intellectual disability ISO RGD:1606481 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9064995 Lmf2 lipase maturation factor 2 gene DOID:630 genetic disease ISO RGD:1606481 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065013 Grin2c glutamate ionotropic receptor NMDA type subunit 2C gene DOID:630 genetic disease ISO RGD:736076 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065028 Tmed9 transmembrane p24 trafficking protein 9 gene DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 ISO RGD:1344143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:28492532 9065028 Tmed9 transmembrane p24 trafficking protein 9 gene DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type ISO RGD:1344143 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145 9065028 Tmed9 transmembrane p24 trafficking protein 9 gene DOID:14748 Sotos syndrome ISO RGD:1344143 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:16770806|PMID:17090394|PMID:18505455|PMID:21567906|PMID:21597970|PMID:23599694|PMID:23913520|PMID:24819041|PMID:25608832|PMID:26047794|PMID:28128410|PMID:28492532|PMID:33389145 9065028 Tmed9 transmembrane p24 trafficking protein 9 gene DOID:630 genetic disease ISO RGD:1344143 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065028 Tmed9 transmembrane p24 trafficking protein 9 gene DOID:9006737 Monoclonal B-Cell Lymphocytosis ISO RGD:1344143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis 9065028 Tmed9 transmembrane p24 trafficking protein 9 gene DOID:9006754 Marfanoid Mental Retardation Syndrome, Autosomal ISO RGD:1344143 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability PMID:25741868 9065037 Olah oleoyl-ACP hydrolase gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1352519 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9065037 Olah oleoyl-ACP hydrolase gene DOID:0080600 COVID-19 ISO RGD:1352519 D RGD:9068941 20200702 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9065037 Olah oleoyl-ACP hydrolase gene DOID:630 genetic disease ISO RGD:1352519 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065048 Arhgef5 Rho guanine nucleotide exchange factor 5 gene DOID:630 genetic disease ISO RGD:735723 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065048 Arhgef5 Rho guanine nucleotide exchange factor 5 gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:735723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 9065048 Arhgef5 Rho guanine nucleotide exchange factor 5 gene DOID:9002304 Prostatic Neoplasms ISO RGD:735723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9065048 Arhgef5 Rho guanine nucleotide exchange factor 5 gene DOID:9005172 Lung Neoplasms ISO RGD:735723 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29054765 9065069 Ppm1j protein phosphatase, Mg2+/Mn2+ dependent 1J gene DOID:0110799 hereditary spastic paraplegia 47 ISO RGD:1603861 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532 9065069 Ppm1j protein phosphatase, Mg2+/Mn2+ dependent 1J gene DOID:13938 amenorrhea ISO RGD:1603861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9065069 Ppm1j protein phosphatase, Mg2+/Mn2+ dependent 1J gene DOID:630 genetic disease ISO RGD:1603861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065089 Drd3 dopamine receptor D3 gene DOID:0050425 restless legs syndrome ISO RGD:735750 D RGD:9068941 20220825 MouseDO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 9065089 Drd3 dopamine receptor D3 gene DOID:0080855 Parkinsonism ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:12535962|REF_RGD_ID:1358605 9065089 Drd3 dopamine receptor D3 gene DOID:0111428 essential tremor 1 ISO RGD:1605735 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Tremor, hereditary essential, 1 PMID:1362221|PMID:16650084|PMID:16809426|PMID:17339592|PMID:25741868|PMID:28492532|PMID:8225313|PMID:8411064|PMID:9514583 9065089 Drd3 dopamine receptor D3 gene DOID:0111428 essential tremor 1 susceptibility ISO RGD:1605735 D RGD:7240710 20240306 OMIM 9065089 Drd3 dopamine receptor D3 gene DOID:10652 Alzheimer's disease ISO RGD:1605735 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 9065089 Drd3 dopamine receptor D3 gene DOID:10763 hypertension ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:11675403|REF_RGD_ID:1580882 9065089 Drd3 dopamine receptor D3 gene DOID:10763 hypertension ISO RGD:735750 D RGD:9068941 20200609 RGD PMID:9691085|REF_RGD_ID:734898 9065089 Drd3 dopamine receptor D3 gene DOID:10914 amnestic disorder ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:15619116|REF_RGD_ID:7175071 9065089 Drd3 dopamine receptor D3 gene DOID:10937 impulse control disorder ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17332411|PMID:19940168|PMID:20671181 9065089 Drd3 dopamine receptor D3 gene DOID:11119 Gilles de la Tourette syndrome ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10523822 9065089 Drd3 dopamine receptor D3 gene DOID:11832 visual epilepsy ISO RGD:2521 D RGD:9068941 20200609 RGD mRNA, increased expression:accumbens nucleus PMID:11597777|REF_RGD_ID:5686415 9065089 Drd3 dopamine receptor D3 gene DOID:12399 pathological gambling ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10523822 9065089 Drd3 dopamine receptor D3 gene DOID:12849 autistic disorder ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19058789 9065089 Drd3 dopamine receptor D3 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 9065089 Drd3 dopamine receptor D3 gene DOID:14330 Parkinson's disease ISO RGD:1605735 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:10495037|REF_RGD_ID:5686418 9065089 Drd3 dopamine receptor D3 gene DOID:14330 Parkinson's disease severity ISO RGD:1605735 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood, lymphocyte PMID:8618685|REF_RGD_ID:5686419 9065089 Drd3 dopamine receptor D3 gene DOID:1561 cognitive disorder ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15619116 9065089 Drd3 dopamine receptor D3 gene DOID:480 movement disease ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12535962 9065089 Drd3 dopamine receptor D3 gene DOID:4990 essential tremor ISO RGD:1605735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Essential tremor, susceptibility to | ClinVar Annotator: match by term: Hereditary essential tremor PMID:1362221|PMID:16650084|PMID:16809426|PMID:17339592|PMID:8225313|PMID:8411064|PMID:9514583 9065089 Drd3 dopamine receptor D3 gene DOID:4990 essential tremor treatment ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:26459182|REF_RGD_ID:13506957 9065089 Drd3 dopamine receptor D3 gene DOID:5419 schizophrenia ISO RGD:1605735 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia, susceptibility to PMID:1362221|PMID:16650084|PMID:16809426|PMID:17339592|PMID:8225313|PMID:8411064|PMID:9514583 9065089 Drd3 dopamine receptor D3 gene DOID:5419 schizophrenia no_association ISO RGD:1605735 D RGD:9068941 20200609 RGD DNA:polymorphism:CDS:BalI polymorphism, amino acid S9G, no association with allele frequency or zygosity PMID:8225313|REF_RGD_ID:1626358 9065089 Drd3 dopamine receptor D3 gene DOID:5419 schizophrenia susceptibility ISO RGD:1605735 D RGD:7240710 20240306 OMIM 9065089 Drd3 dopamine receptor D3 gene DOID:630 genetic disease ISO RGD:1605735 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065089 Drd3 dopamine receptor D3 gene DOID:670 amphetamine abuse ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19940168 9065089 Drd3 dopamine receptor D3 gene DOID:679 basal ganglia disease ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19506579 9065089 Drd3 dopamine receptor D3 gene DOID:9001312 Tardive Dyskinesia ISO RGD:1605735 D RGD:9068941 20200609 RGD associated with schizophrenia PMID:12960753|REF_RGD_ID:1581250 9065089 Drd3 dopamine receptor D3 gene DOID:9002211 Hyperalgesia ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20433900 9065089 Drd3 dopamine receptor D3 gene DOID:9002362 Hyperkinesis ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16026479 9065089 Drd3 dopamine receptor D3 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10523822|PMID:15100700|PMID:17332411|PMID:18566292|PMID:20494958 9065089 Drd3 dopamine receptor D3 gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:25989500|REF_RGD_ID:13506961 9065089 Drd3 dopamine receptor D3 gene DOID:9008394 Drug-Induced Dyskinesia ISO RGD:1605735 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20945430 9065089 Drd3 dopamine receptor D3 gene DOID:9008967 Brain Concussion ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:26448536|REF_RGD_ID:13506960 9065089 Drd3 dopamine receptor D3 gene DOID:9976 heroin dependence ISO RGD:2521 D RGD:9068941 20200609 RGD PMID:28598964|REF_RGD_ID:13506959 9065100 Zdhhc22 zinc finger DHHC-type palmitoyltransferase 22 gene DOID:1059 intellectual disability ISO RGD:1318218 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability, mild 9065100 Zdhhc22 zinc finger DHHC-type palmitoyltransferase 22 gene DOID:630 genetic disease ISO RGD:1318218 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065120 Cd300e CD300e molecule gene DOID:630 genetic disease ISO RGD:1605230 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065128 Ltbr lymphotoxin beta receptor gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1319795 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9065128 Ltbr lymphotoxin beta receptor gene DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 PMID:25741868 9065128 Ltbr lymphotoxin beta receptor gene DOID:0080526 bronchiectasis 1 ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 9065128 Ltbr lymphotoxin beta receptor gene DOID:0080527 bronchiectasis 2 ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 PMID:25741868 9065128 Ltbr lymphotoxin beta receptor gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9065128 Ltbr lymphotoxin beta receptor gene DOID:0111621 Temtamy syndrome ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9065128 Ltbr lymphotoxin beta receptor gene DOID:12365 malaria ISO RGD:1319795 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15788153 9065128 Ltbr lymphotoxin beta receptor gene DOID:630 genetic disease ISO RGD:1319795 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065128 Ltbr lymphotoxin beta receptor gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:1319795 D RGD:9068941 20201106 CTD CTD Direct Evidence: marker/mechanism PMID:31557154 9065128 Ltbr lymphotoxin beta receptor gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1319795 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9065147 Tssk6 testis specific serine kinase 6 gene DOID:630 genetic disease ISO RGD:1605019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065153 Camsap3 calmodulin regulated spectrin associated protein family member 3 gene DOID:0080490 mucolipidosis type IV ISO RGD:1316325 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type IV PMID:11030752|PMID:11317355|PMID:28492532 9065153 Camsap3 calmodulin regulated spectrin associated protein family member 3 gene DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 ISO RGD:1316325 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 PMID:28492532 9065153 Camsap3 calmodulin regulated spectrin associated protein family member 3 gene DOID:630 genetic disease ISO RGD:1316325 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065187 Timm10 translocase of inner mitochondrial membrane 10 gene DOID:1059 intellectual disability ISO RGD:734114 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9065187 Timm10 translocase of inner mitochondrial membrane 10 gene DOID:3247 rhabdomyosarcoma ISO RGD:734114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16669873 9065187 Timm10 translocase of inner mitochondrial membrane 10 gene DOID:3910 lung adenocarcinoma ISO RGD:734114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9065187 Timm10 translocase of inner mitochondrial membrane 10 gene DOID:630 genetic disease ISO RGD:734114 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065187 Timm10 translocase of inner mitochondrial membrane 10 gene DOID:9006205 Animal Disease Models ISO RGD:734114 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27602772 9065200 Timd4 T cell immunoglobulin and mucin domain containing 4 gene DOID:0060707 lymphoproliferative syndrome 1 ISO RGD:1353666 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 1 PMID:16860760|PMID:22289921|PMID:26056787|PMID:28492532 9065200 Timd4 T cell immunoglobulin and mucin domain containing 4 gene DOID:5119 ovarian cyst ISO RGD:1353666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21239663 9065200 Timd4 T cell immunoglobulin and mucin domain containing 4 gene DOID:630 genetic disease ISO RGD:1353666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065200 Timd4 T cell immunoglobulin and mucin domain containing 4 gene DOID:684 hepatocellular carcinoma ISO RGD:1353666 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9065200 Timd4 T cell immunoglobulin and mucin domain containing 4 gene DOID:9074 systemic lupus erythematosus ISO RGD:1557669 D RGD:9068941 20220825 MouseDO OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420 9065210 Slc17a9 solute carrier family 17 member 9 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9065210 Slc17a9 solute carrier family 17 member 9 gene DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy ISO RGD:1323655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 9065210 Slc17a9 solute carrier family 17 member 9 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1323655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9065210 Slc17a9 solute carrier family 17 member 9 gene DOID:0081119 benign familial infantile seizures 6 ISO RGD:1323655 D RGD:8554872 20220802 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 9065210 Slc17a9 solute carrier family 17 member 9 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323655 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9065210 Slc17a9 solute carrier family 17 member 9 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:1323655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid storage disease PMID:25921748|PMID:28492532|PMID:30866059 9065210 Slc17a9 solute carrier family 17 member 9 gene DOID:630 genetic disease ISO RGD:1323655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065210 Slc17a9 solute carrier family 17 member 9 gene DOID:9006909 Porokeratosis, Disseminated Superficial Actinic, 8 ISO RGD:1323655 D RGD:7240710 20180130 OMIM 9065210 Slc17a9 solute carrier family 17 member 9 gene DOID:9006909 Porokeratosis, Disseminated Superficial Actinic, 8 ISO RGD:1323655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Porokeratosis 8, disseminated superficial actinic type PMID:25180256|PMID:25741868 9065236 Fth1 ferritin heavy chain 1 gene DOID:0050662 bestrophinopathy ISO RGD:732498 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autosomal recessive bestrophinopathy PMID:10788642|PMID:18985398|PMID:20927214|PMID:21273940|PMID:2133066|PMID:21330666|PMID:21809908|PMID:21825197|PMID:24560797|PMID:25489231|PMID:25741868|PMID:26201355|PMID:26720466|PMID:28492532|PMID:28687848|PMID:29555955|PMID:29668979|PMID:30498755|PMID:30593719|PMID:33546218 9065236 Fth1 ferritin heavy chain 1 gene DOID:0060071 pre-malignant neoplasm ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21785164 9065236 Fth1 ferritin heavy chain 1 gene DOID:0080600 COVID-19 severity ISO RGD:732498 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 9065236 Fth1 ferritin heavy chain 1 gene DOID:0080600 COVID-19 severity ISO RGD:732498 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|REF_RGD_ID:30310229 9065236 Fth1 ferritin heavy chain 1 gene DOID:0110396 retinitis pigmentosa 50 ISO RGD:732498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 50 PMID:25741868|PMID:28492532 9065236 Fth1 ferritin heavy chain 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:732498 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9065236 Fth1 ferritin heavy chain 1 gene DOID:0111031 hemochromatosis type 5 ISO RGD:732498 D RGD:7240710 20180130 OMIM 9065236 Fth1 ferritin heavy chain 1 gene DOID:0111031 hemochromatosis type 5 ISO RGD:732498 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 5 PMID:11389486|PMID:14615048|PMID:28492532 9065236 Fth1 ferritin heavy chain 1 gene DOID:0111569 autosomal dominant vitreoretinochoroidopathy ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 9065236 Fth1 ferritin heavy chain 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732498 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14615048|PMID:25741868|PMID:28492532 9065236 Fth1 ferritin heavy chain 1 gene DOID:10584 retinitis pigmentosa ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 9065236 Fth1 ferritin heavy chain 1 gene DOID:1059 intellectual disability ISO RGD:732498 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9065236 Fth1 ferritin heavy chain 1 gene DOID:1289 neurodegenerative disease ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 9065236 Fth1 ferritin heavy chain 1 gene DOID:1596 depressive disorder ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17063146 9065236 Fth1 ferritin heavy chain 1 gene DOID:1790 malignant mesothelioma ISO RGD:732498 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:26818092 9065236 Fth1 ferritin heavy chain 1 gene DOID:2773 contact dermatitis ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9065236 Fth1 ferritin heavy chain 1 gene DOID:3070 high grade glioma ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21385903 9065236 Fth1 ferritin heavy chain 1 gene DOID:6000 congestive heart failure ISO RGD:2635 D RGD:9068941 20200609 RGD protein:decreased expression:heart PMID:18992754|REF_RGD_ID:2315110 9065236 Fth1 ferritin heavy chain 1 gene DOID:630 genetic disease ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065236 Fth1 ferritin heavy chain 1 gene DOID:684 hepatocellular carcinoma ISO RGD:2635 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:9054589|REF_RGD_ID:632698 9065236 Fth1 ferritin heavy chain 1 gene DOID:8501 fundus dystrophy ISO RGD:732498 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10788642|PMID:18985398|PMID:20927214|PMID:21273940|PMID:2133066|PMID:21330666|PMID:21809908|PMID:21825197|PMID:24560797|PMID:25489231|PMID:25741868|PMID:26201355|PMID:26720466|PMID:28492532|PMID:28687848|PMID:29555955|PMID:29668979|PMID:30498755|PMID:30593719|PMID:33546218 9065236 Fth1 ferritin heavy chain 1 gene DOID:9000058 Keloid ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 9065236 Fth1 ferritin heavy chain 1 gene DOID:9002891 Vitelliform Macular Dystrophy 2 ISO RGD:732498 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:10788642|PMID:13129869|PMID:14615048|PMID:18985398|PMID:20927214|PMID:21273940|PMID:2133066|PMID:21330666|PMID:21809908|PMID:21825197|PMID:24560797|PMID:25489231|PMID:25741868|PMID:26201355|PMID:26720466|PMID:28492532|PMID:28687848|PMID:29555955|PMID:29668979|PMID:30498755|PMID:30593719|PMID:33546218 9065236 Fth1 ferritin heavy chain 1 gene DOID:9004575 Neoplasm Invasiveness ISO RGD:732498 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 9065236 Fth1 ferritin heavy chain 1 gene DOID:9005725 Iron Overload ISO RGD:732498 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Iron Overload PMID:14615048|PMID:25741868|PMID:28492532|PMID:28687848 9065236 Fth1 ferritin heavy chain 1 gene DOID:9006072 Neurodegeneration with Brain Iron Accumulation 9 ISO RGD:732498 D RGD:7240710 20240124 OMIM 9065236 Fth1 ferritin heavy chain 1 gene DOID:9006072 Neurodegeneration with Brain Iron Accumulation 9 ISO RGD:732498 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 9 PMID:37660254 9065236 Fth1 ferritin heavy chain 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:2635 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus PMID:22639386|REF_RGD_ID:11541085 9065247 Eeig1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1605493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 9065247 Eeig1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1605493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9065247 Eeig1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:1605493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391 9065247 Eeig1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0080571 congenital disorder of glycosylation Iu ISO RGD:1605493 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u PMID:23109149|PMID:28492532 9065247 Eeig1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1605493 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 9065247 Eeig1 estrogen-induced osteoclastogenesis regulator 1 gene DOID:630 genetic disease ISO RGD:1605493 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065271 Abitram actin binding transcription modulator gene DOID:0080435 developmental and epileptic encephalopathy 37 ISO RGD:1352417 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 PMID:28492532 9065271 Abitram actin binding transcription modulator gene DOID:630 genetic disease ISO RGD:1352417 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065298 Lipf lipase F, gastric type gene DOID:0080191 PTEN hamartoma tumor syndrome ISO RGD:1343616 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16287957|PMID:16685657|PMID:18456716|PMID:18510548|PMID:21194675|PMID:21926107|PMID:22382802|PMID:23132533|PMID:23335809|PMID:28492532|PMID:9286463|PMID:9467011 9065298 Lipf lipase F, gastric type gene DOID:630 genetic disease ISO RGD:1343616 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065323 Foxf1 forkhead box F1 gene DOID:0111985 immunodeficiency 32B ISO RGD:1348211 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Immunodeficiency 32B PMID:28492532 9065323 Foxf1 forkhead box F1 gene DOID:114 heart disease ISO RGD:1348211 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Abnormal cardiac atrium morphology PMID:25741868 9065323 Foxf1 forkhead box F1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1348211 D RGD:7240710 20180130 OMIM 9065323 Foxf1 forkhead box F1 gene DOID:13042 persistent fetal circulation syndrome ISO RGD:1348211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Alveolar capillary dysplasia with misalignment of pulmonary veins | ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia PMID:15520767|PMID:19500772|PMID:23505205|PMID:24033266|PMID:25741868|PMID:27071622|PMID:27439648|PMID:28469849|PMID:28492532|PMID:30380203 9065323 Foxf1 forkhead box F1 gene DOID:14557 primary pulmonary hypertension ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension PMID:19500772|PMID:19592680|PMID:19812545|PMID:20425831|PMID:22766610|PMID:23034409|PMID:23074687|PMID:23335808|PMID:23505205|PMID:23943206|PMID:24033266|PMID:24842713|PMID:26462560 9065323 Foxf1 forkhead box F1 gene DOID:14679 VACTERL association ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: VATER association PMID:2629409|PMID:26294094 9065323 Foxf1 forkhead box F1 gene DOID:1657 ventricular septal defect ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ventricular septal defect PMID:25741868 9065323 Foxf1 forkhead box F1 gene DOID:2320 obstructive lung disease ISO RGD:1348211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18421012 9065323 Foxf1 forkhead box F1 gene DOID:350 mastocytosis ISO RGD:1348211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18421012 9065323 Foxf1 forkhead box F1 gene DOID:3827 congenital diaphragmatic hernia ISO RGD:1348211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27663689 9065323 Foxf1 forkhead box F1 gene DOID:630 genetic disease ISO RGD:1348211 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9065323 Foxf1 forkhead box F1 gene DOID:9000179 Infantile Hypertrophic Pyloric Stenosis 5 ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyloric stenosis, infantile hypertrophic, 5 9065323 Foxf1 forkhead box F1 gene DOID:9000807 Megaduodenum ISO RGD:1348211 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal megacystis PMID:25741868 9065323 Foxf1 forkhead box F1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1348211 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27793025 9065333 Cnksr3 CNKSR family member 3 gene DOID:630 genetic disease ISO RGD:1316799 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0111332 Pitt-Hopkins-like syndrome 2 ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0111545 familial male-limited precocious puberty ISO RGD:737217 D RGD:7240710 20180130 OMIM 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0111545 familial male-limited precocious puberty ISO RGD:737217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial male-limited precocious puberty | ClinVar Annotator: match by term: Gonadotropin-independent familial sexual precocity PMID:10084607|PMID:11134146|PMID:11391350|PMID:11849253|PMID:11867621|PMID:12679452|PMID:16123233|PMID:16684832|PMID:16887451|PMID:17030087|PMID:17055147|PMID:17055151|PMID:21490077|PMID:2244890|PMID:23686864|PMID:23861372|PMID:23982246|PMID:25741868|PMID:25741869|PMID:26040673|PMID:26467025|PMID:27532428|PMID:28339861|PMID:28492532|PMID:29654692|PMID:30283825|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7692306|PMID:7714085|PMID:7757065|PMID:7892197|PMID:8855841|PMID:8929952|PMID:8943222|PMID:9039330|PMID:9467560|PMID:9661624|PMID:9703386|PMID:9851790 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0112259 Leydig cell hypoplasia ISO RGD:737217 D RGD:7240710 20180130 OMIM 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0112259 Leydig cell hypoplasia ISO RGD:737217 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female PMID:11041448|PMID:11849253|PMID:12050206|PMID:12679452|PMID:15372531|PMID:15472221|PMID:16123233|PMID:16616374|PMID:17030087|PMID:21490077|PMID:2244890|PMID:23861372|PMID:25741868|PMID:25741869|PMID:26040673|PMID:26246498|PMID:26467025|PMID:27016457|PMID:27533885|PMID:28339861|PMID:28492532|PMID:30283825|PMID:30444213|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7581384|PMID:7692306|PMID:7714085|PMID:7719343|PMID:7757065|PMID:7892197|PMID:8559204|PMID:8843415|PMID:8855841|PMID:8923827|PMID:8943222|PMID:9039330|PMID:9514160|PMID:9626144|PMID:9703386|PMID:9817592|PMID:9851790 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0112260 Leydig cell hypoplasia type I ISO RGD:737217 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I PMID:11041448|PMID:12679452|PMID:16123233|PMID:16616374|PMID:17030087|PMID:21490077|PMID:2244890|PMID:23861372|PMID:25741868|PMID:26040673|PMID:26246498|PMID:26467025|PMID:27016457|PMID:27533885|PMID:28339861|PMID:28492532|PMID:30283825|PMID:30444213|PMID:31967000|PMID:7527413|PMID:7556872|PMID:7562970|PMID:7692306|PMID:7714085|PMID:7757065|PMID:7892197|PMID:8559204|PMID:8843415|PMID:8855841|PMID:8943222|PMID:9039330|PMID:9703386|PMID:9851790 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:0112261 Leydig cell hypoplasia type II ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leydig cell hypoplasia, type II PMID:10852464|PMID:9215288|PMID:9626653 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:12336 male infertility ISO RGD:737217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20164437 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:1612 breast cancer ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:SNP:CDS:rs2293275, 312Asn allele associated with a slight increase in risk in two patient cohorts (p=0.03 and p=0.001) PMID:17709176|REF_RGD_ID:2292539 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:1612 breast cancer onset ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:insertion:CDS:insLQ allele associated with earlier onset (51.9 vs 60.2 yrs, p=0.03) PMID:12679452|REF_RGD_ID:2292545 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:1612 breast cancer severity ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:insertion:CDS:insLQ allele associated with decreased disease free survival alone (p=0.007) or in combination with the 16Ser allele of GNRH1 (p=0.001) PMID:17692113|REF_RGD_ID:2292541 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:1923 disorder of sexual development ISO RGD:737217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22615892 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:1924 hypogonadism ISO RGD:737217 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Hypergonadotropic hypogonadism PMID:12679452|PMID:2244890|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7556872|PMID:9851790 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:2277 gonadal disease susceptibility ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:transition: ; 1192T>C, precocious puberty, OMIM:176410 PMID:8929952|REF_RGD_ID:1600291 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:2696 Leydig cell tumor ISO RGD:10870 D RGD:9068941 20200609 RGD PMID:15967102|REF_RGD_ID:2302176 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:2696 Leydig cell tumor ISO RGD:737217 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10580072|PMID:11857565 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:2696 Leydig cell tumor ISO RGD:737217 D RGD:9068941 20200609 RGD DNA:transversion:CDS:1732G>C, amino acid D578H PMID:11857565|REF_RGD_ID:2292537 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:2999 granulosa cell tumor ISO RGD:10870 D RGD:9068941 20200609 RGD PMID:15967102|REF_RGD_ID:2302176 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:2999 granulosa cell tumor ISO RGD:737217 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05) PMID:11994539|REF_RGD_ID:2289157 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:3114 serous cystadenocarcinoma ISO RGD:737217 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05) PMID:11994539|REF_RGD_ID:2289157 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:3603 mucinous cystadenocarcinoma ISO RGD:737217 D RGD:9068941 20200609 RGD mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) PMID:11994539|REF_RGD_ID:2289157 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:3765 pseudohermaphroditism ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pseudohermaphroditism 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:630 genetic disease ISO RGD:737217 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:9002762 Ovarian Neoplasms ISO RGD:737217 D RGD:9068941 20200609 RGD mRNA:decreased expression:ovary PMID:11994539|REF_RGD_ID:2289157 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:9002826 Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty ISO RGD:737217 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty PMID:10580072|PMID:11857565 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:737217 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:3007 D RGD:9068941 20200609 RGD mRNA:splice variant (rat) PMID:15044717|REF_RGD_ID:2302177 9065365 Lhcgr luteinizing hormone/choriogonadotropin receptor gene DOID:9008502 Anorchia ISO RGD:737217 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital absence of testes PMID:25741868 9065380 Cdc42se1 CDC42 small effector 1 gene DOID:0111940 immunodeficiency 42 ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency PMID:28492532 9065380 Cdc42se1 CDC42 small effector 1 gene DOID:0112132 severe congenital neutropenia 5 ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome PMID:28492532 9065380 Cdc42se1 CDC42 small effector 1 gene DOID:0112133 severe congenital neutropenia 3 ISO RGD:1346360 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kostmann syndrome PMID:28492532 9065380 Cdc42se1 CDC42 small effector 1 gene DOID:1540 parathyroid carcinoma ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9065380 Cdc42se1 CDC42 small effector 1 gene DOID:5812 MHC class II deficiency ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MHC class II deficiency PMID:28492532 9065380 Cdc42se1 CDC42 small effector 1 gene DOID:630 genetic disease ISO RGD:1346360 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065380 Cdc42se1 CDC42 small effector 1 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1346360 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9065380 Cdc42se1 CDC42 small effector 1 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1346360 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9065411 Gpa33 glycoprotein A33 gene DOID:1540 parathyroid carcinoma ISO RGD:1315484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9065411 Gpa33 glycoprotein A33 gene DOID:630 genetic disease ISO RGD:1315484 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065411 Gpa33 glycoprotein A33 gene DOID:9007432 Latent Tuberculosis ISO RGD:1315484 D RGD:9068941 20210212 RGD mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human) PMID:29602771|REF_RGD_ID:41404732 9065411 Gpa33 glycoprotein A33 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1315484 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9065422 Lhx9 LIM homeobox 9 gene DOID:1540 parathyroid carcinoma ISO RGD:1354474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9065422 Lhx9 LIM homeobox 9 gene DOID:630 genetic disease ISO RGD:1354474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065422 Lhx9 LIM homeobox 9 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:1354474 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 9065422 Lhx9 LIM homeobox 9 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1354474 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9065462 Morf4l2 mortality factor 4 like 2 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1347861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9065462 Morf4l2 mortality factor 4 like 2 gene DOID:0110773 hereditary spastic paraplegia 2 ISO RGD:1347861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:10417279|PMID:16380909|PMID:18160035|PMID:19328639|PMID:28492532|PMID:9634530 9065462 Morf4l2 mortality factor 4 like 2 gene DOID:12849 autistic disorder ISO RGD:1347861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9065462 Morf4l2 mortality factor 4 like 2 gene DOID:3210 Pelizaeus-Merzbacher disease ISO RGD:1347861 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease PMID:12297985|PMID:12605435|PMID:16380909|PMID:31690835|PMID:9633722|PMID:9634530 9065462 Morf4l2 mortality factor 4 like 2 gene DOID:630 genetic disease ISO RGD:1347861 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065462 Morf4l2 mortality factor 4 like 2 gene DOID:9008086 Developmental Disabilities ISO RGD:1347861 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9065475 Znf174 zinc finger protein 174 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1322583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9065475 Znf174 zinc finger protein 174 gene DOID:1826 epilepsy ISO RGD:1322583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9065475 Znf174 zinc finger protein 174 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1322583 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9065475 Znf174 zinc finger protein 174 gene DOID:1933 Rubinstein-Taybi syndrome ISO RGD:1322583 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532 9065475 Znf174 zinc finger protein 174 gene DOID:2843 long QT syndrome ISO RGD:1322583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26132555 9065475 Znf174 zinc finger protein 174 gene DOID:630 genetic disease ISO RGD:1322583 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0050560 Walker-Warburg syndrome ISO RGD:736157 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0050788 proximal symphalangism ISO RGD:736157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Symphalangism affecting the proximal phalanx of the 4th finger PMID:28492532 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0060318 acute promyelocytic leukemia ISO RGD:736157 D RGD:9068941 20220310 CTD CTD Direct Evidence: marker/mechanism PMID:32929351 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0080547 metabolic dysfunction-associated steatohepatitis treatment ISO RGD:1332354 D RGD:9068941 20200609 RGD PMID:29505790|REF_RGD_ID:19165131 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:736157 D RGD:7240710 20180802 OMIM 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:0080957 primary hypoalphalipoproteinemia 1 ISO RGD:736157 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:11476965|PMID:11940086|PMID:12009425|PMID:12054535|PMID:12111381|PMID:12204794|PMID:12509412|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15262183|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17113061|PMID:17303779|PMID:17383594|PMID:18199144|PMID:18354102|PMID:18523221|PMID:18776170|PMID:19133158|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20533173|PMID:20595220|PMID:20656214|PMID:20800056|PMID:20849526|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923419|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23087442|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23376243|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24097981|PMID:24456889|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26073400|PMID:26079414|PMID:26255038|PMID:26350511|PMID:27745835|PMID:27884173|PMID:28492532|PMID:28634189|PMID:28870971|PMID:29083407|PMID:29224928|PMID:29535370|PMID:30333156|PMID:30795984|PMID:30945099|PMID:31973102|PMID:32041611|PMID:34906502|PMID:35460704|PMID:36053979|PMID:7945562 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:10230 aortic atherosclerosis ISO RGD:736157 D RGD:9068941 20230824 RGD mRNA,protein:decreased expression:aorta PMID:33035679|REF_RGD_ID:401793744 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:10652 Alzheimer's disease ISO RGD:736157 D RGD:9068941 20200609 RGD PMID:15024730|REF_RGD_ID:1300323 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:10787 premature menopause ISO RGD:631344 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, jejunum (rat) PMID:24619822|REF_RGD_ID:19165129 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:10976 membranous glomerulonephritis ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:12507911|REF_RGD_ID:1598547 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1168 familial hyperlipidemia ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:17026988|REF_RGD_ID:1598533 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1168 familial hyperlipidemia treatment ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:23185768|REF_RGD_ID:21408557 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:12236 primary biliary cholangitis ISO RGD:736157 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (human) PMID:28660384|REF_RGD_ID:21203516 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:13619 extrahepatic cholestasis ISO RGD:631344 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:liver, basolateral plasma membrane (rat) PMID:28660384|REF_RGD_ID:21203516 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:13810 familial hypercholesterolemia ISO RGD:736157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:19743957|PMID:20800056|PMID:24497850|PMID:25215231|PMID:25741868|PMID:28492532 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1387 hypolipoproteinemia ISO RGD:736157 D RGD:9068941 20200609 RGD PMID:11086027|REF_RGD_ID:1600951 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:736157 D RGD:7240710 20180130 OMIM 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:736157 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease PMID:10431236|PMID:10431237|PMID:10535983|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:11476961|PMID:11476965|PMID:11940086|PMID:12111381|PMID:12204794|PMID:12624133|PMID:12702168|PMID:12763760|PMID:15262183|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17113061|PMID:17303779|PMID:17383594|PMID:18199144|PMID:18354102|PMID:18523221|PMID:18776170|PMID:19133158|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20595220|PMID:20656214|PMID:20800056|PMID:20849526|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21860089|PMID:21875686|PMID:22923419|PMID:22923420|PMID:22995991|PMID:23087442|PMID:23139370|PMID:23152888|PMID:23376243|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24097981|PMID:24456889|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26255038|PMID:26350511|PMID:27745835|PMID:27884173|PMID:28492532|PMID:28870971|PMID:29224928|PMID:29535370|PMID:30333156|PMID:30795984|PMID:31973102|PMID:32041611|PMID:35460704|PMID:36053979 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1388 Tangier disease ISO RGD:736157 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease PMID:10431236|PMID:10431237|PMID:10535983|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:11476961|PMID:11476965|PMID:11940086|PMID:12111381|PMID:12204794|PMID:12509412|PMID:12624133|PMID:12702168|PMID:12763760|PMID:15262183|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17113061|PMID:17303779|PMID:17383594|PMID:18199144|PMID:18354102|PMID:18523221|PMID:18776170|PMID:19133158|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20595220|PMID:20656214|PMID:20800056|PMID:20849526|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21860089|PMID:21875686|PMID:22923419|PMID:22923420|PMID:22995991|PMID:23087442|PMID:23139370|PMID:23152888|PMID:23376243|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24097981|PMID:24456889|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26255038|PMID:26350511|PMID:27745835|PMID:27884173|PMID:28492532|PMID:28870971|PMID:29224928|PMID:29535370|PMID:30333156|PMID:30795984|PMID:31973102|PMID:32041611|PMID:35460704|PMID:36053979 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1936 atherosclerosis ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022523 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:1936 atherosclerosis treatment ISO RGD:1332354 D RGD:9068941 20230930 RGD PMID:29593532|REF_RGD_ID:401827839 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:3393 coronary artery disease ISO RGD:736157 D RGD:9068941 20200609 RGD PMID:11086027|REF_RGD_ID:1600951 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:3459 breast carcinoma ISO RGD:736157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Breast carcinoma PMID:28492532 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:3571 liver cancer severity ISO RGD:1332354 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (mouse) PMID:30580964|REF_RGD_ID:24922199 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:574 peripheral nervous system disease ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21245421 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:630 genetic disease ISO RGD:736157 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19743957|PMID:20800056|PMID:20880529|PMID:23770607|PMID:24497850|PMID:25215231|PMID:25741868|PMID:26350511|PMID:28492532|PMID:32041611 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:684 hepatocellular carcinoma ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:16941710|REF_RGD_ID:1598532 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:684 hepatocellular carcinoma severity ISO RGD:736157 D RGD:9068941 20200609 RGD mRNA:decreased expression:liver (human) PMID:30580964|REF_RGD_ID:24922199 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:783 end stage renal disease ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19878707 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:783 end stage renal disease ameliorates ISO RGD:631344 D RGD:9068941 20230914 RGD PMID:19878707|REF_RGD_ID:2326081 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9000528 Coronary Disease ISO RGD:736157 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Early-onset coronary artery disease 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:631344 D RGD:9068941 20200609 RGD mRNA:increased expression:liver, jejunum (rat) PMID:24619822|REF_RGD_ID:19165129 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9000808 Hypercholesterolemia ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22022523 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9002117 Hypoalphalipoproteinemias ISO RGD:736157 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17303779|PMID:17383594|PMID:18523221|PMID:18776170|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20418488|PMID:20427018|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24497850|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26073400|PMID:26079414|PMID:26255038|PMID:26350511|PMID:27884173|PMID:28492532|PMID:28634189|PMID:28870971|PMID:29083407|PMID:30333156|PMID:7945562 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9002117 Hypoalphalipoproteinemias ISO RGD:736157 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17303779|PMID:17383594|PMID:18523221|PMID:18776170|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20418488|PMID:20427018|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26073400|PMID:26079414|PMID:26255038|PMID:26350511|PMID:27745835|PMID:27884173|PMID:28492532|PMID:28634189|PMID:28870971|PMID:29083407|PMID:30333156|PMID:7945562 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9002117 Hypoalphalipoproteinemias ISO RGD:736157 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:12509412|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17303779|PMID:17383594|PMID:18523221|PMID:18776170|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20418488|PMID:20427018|PMID:20533173|PMID:20800056|PMID:20849526|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23087442|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24097981|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26073400|PMID:26079414|PMID:26255038|PMID:26350511|PMID:27745835|PMID:27884173|PMID:28492532|PMID:28634189|PMID:28870971|PMID:29083407|PMID:30333156|PMID:30945099|PMID:32041611|PMID:36053979|PMID:7945562 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9002189 High Myopia ISO RGD:736157 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: High myopia 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:736157 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Reduced delayed hypersensitivity PMID:28492532 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9004017 Chronic Hepatitis C severity ISO RGD:736157 D RGD:9068941 20200609 RGD DNA:SNP:introns:(rs3890182, rs1883025) (human) PMID:28164591|REF_RGD_ID:21066337 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9005369 Hepatomegaly ISO RGD:1332354 D RGD:9068941 20200609 RGD protein:increased expression:hippocampus (mouse) PMID:25217640|REF_RGD_ID:21408550 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9005519 Hyperlipoproteinemia Type II ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16030523 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9006646 Metabolic Syndrome susceptibility ISO RGD:736157 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R230C (rs9282541) (human) PMID:17287470|REF_RGD_ID:1601092 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:736157 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22294766 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9352 type 2 diabetes mellitus onset ISO RGD:736157 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R230C (rs9282541) (human) PMID:18003760|REF_RGD_ID:2312576 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9452 steatotic liver disease ISO RGD:631344 D RGD:9068941 20200609 RGD PMID:15995177|REF_RGD_ID:1598534 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9452 steatotic liver disease treatment ISO RGD:1332354 D RGD:9068941 20200609 RGD PMID:26362727|REF_RGD_ID:21408552 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9452 steatotic liver disease treatment ISO RGD:1332354 D RGD:9068941 20200609 RGD associated with adult growth hormone deficiency PMID:30130150|REF_RGD_ID:18936993 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9970 obesity disease_progression ISO RGD:631344 D RGD:9068941 20200609 RGD mRNA:increased expression:liver (rat) PMID:25612518|REF_RGD_ID:15045599 9065482 Abca1 ATP binding cassette subfamily A member 1 gene DOID:9970 obesity susceptibility ISO RGD:736157 D RGD:9068941 20200609 RGD DNA:SNP:exon:p.R230C (rs9282541) (human) PMID:17287470|REF_RGD_ID:1601092 9065555 Gtpbp8 GTP binding protein 8 (putative) gene DOID:630 genetic disease ISO RGD:1606015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065567 Scgn secretagogin, EF-hand calcium binding protein gene DOID:630 genetic disease ISO RGD:1347901 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065600 Mpg N-methylpurine DNA glycosylase gene DOID:630 genetic disease ISO RGD:731894 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065643 Pdlim2 PDZ and LIM domain 2 gene DOID:630 genetic disease ISO RGD:1345506 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065643 Pdlim2 PDZ and LIM domain 2 gene DOID:9007617 Conotruncal Cardiac Defects ISO RGD:1345506 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Conotruncal heart malformations PMID:28492532 9065673 Ptchd1 patched domain containing 1 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability 9065673 Ptchd1 patched domain containing 1 gene DOID:0060041 autism spectrum disorder ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9065673 Ptchd1 patched domain containing 1 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9065673 Ptchd1 patched domain containing 1 gene DOID:1059 intellectual disability ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9065673 Ptchd1 patched domain containing 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:1615725 D RGD:9068941 20220825 MouseDO OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003 9065673 Ptchd1 patched domain containing 1 gene DOID:12849 autistic disorder ISO RGD:1352131 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 4 | ClinVar Annotator: match by term: PTCHD1-related condition PMID:20844286|PMID:21114665|PMID:21681106|PMID:23871722|PMID:25131214|PMID:25741868|PMID:26539891|PMID:30208311 9065673 Ptchd1 patched domain containing 1 gene DOID:12849 autistic disorder susceptibility ISO RGD:1352131 D RGD:7240710 20190502 OMIM 9065673 Ptchd1 patched domain containing 1 gene DOID:13938 amenorrhea ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary amenorrhea PMID:21681106 9065673 Ptchd1 patched domain containing 1 gene DOID:630 genetic disease ISO RGD:1352131 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20844286|PMID:21114665|PMID:23871722|PMID:25741868|PMID:25782667|PMID:27007844|PMID:28492532|PMID:29118110|PMID:30166346 9065673 Ptchd1 patched domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9065673 Ptchd1 patched domain containing 1 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:1352131 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21091464 9065673 Ptchd1 patched domain containing 1 gene DOID:9008582 Developmental Disease ISO RGD:1352131 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0050331 lacrimoauriculodentodigital syndrome 1 ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16501574|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28483234|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:32715658|PMID:33942288|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short ribs PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:20420824|PMID:22045636|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8640234|PMID:8858131|PMID:9438390|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0050736 autosomal dominant disease ISO RGD:733045 D RGD:9068941 20220825 MouseDO 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0050866 oral squamous cell carcinoma ISO RGD:733044 D RGD:9068941 20200813 RGD associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human) PMID:30563911|REF_RGD_ID:38500239 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0050920 tonsil squamous cell carcinoma severity ISO RGD:733044 D RGD:9068941 20200806 RGD associated with human papillomavirus;protein:decreased expression:tumor cells (human) PMID:30061236|REF_RGD_ID:36947883 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0060041 autism spectrum disorder ISO RGD:733044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0060249 scoliosis ISO RGD:733045 D RGD:9068941 20220825 MouseDO 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0060703 Muenke syndrome ISO RGD:733044 D RGD:7240710 20180130 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0060703 Muenke syndrome ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Muenke syndrome | ClinVar Annotator: match by term: Syndrome of coronal craniosynostosis PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31976144|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0070004 myeloid neoplasm ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Myeloproliferative disorder PMID:11429702|PMID:19088846|PMID:19331127|PMID:19381019|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:8845844|PMID:9438390|PMID:9843049 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0070309 absence epilepsy ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Absence seizures PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0080041 hypochondroplasia ISO RGD:733044 D RGD:7240710 20180130 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0080041 hypochondroplasia ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypochondroplasia PMID:10053006|PMID:10073901|PMID:10094188|PMID:10215410|PMID:10360392|PMID:10360393|PMID:10361991|PMID:10395236|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10777366|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11314002|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11754059|PMID:11879084|PMID:12707965|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17256796|PMID:17384684|PMID:17509076|PMID:17526800|PMID:17552943|PMID:17875876|PMID:17895900|PMID:18000903|PMID:18076102|PMID:18198189|PMID:18252861|PMID:18266238|PMID:18328977|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22339077|PMID:22622662|PMID:22628360|PMID:22903874|PMID:23045425|PMID:23056398|PMID:23149434|PMID:23165795|PMID:23573386|PMID:23726269|PMID:23972473|PMID:24411048|PMID:24715719|PMID:24728327|PMID:25157968|PMID:25505835|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25777271|PMID:25809207|PMID:26220993|PMID:26380986|PMID:26467025|PMID:26619011|PMID:26740388|PMID:26754866|PMID:26818779|PMID:26887047|PMID:26992226|PMID:28181399|PMID:28230213|PMID:28492532|PMID:28763161|PMID:28777845|PMID:29595812|PMID:29620724|PMID:29681095|PMID:30138938|PMID:30355600|PMID:30681580|PMID:30692697|PMID:30753492|PMID:31048079|PMID:31130284|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33511985|PMID:33942288|PMID:36373817|PMID:36714562|PMID:4697848|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8723101|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9450868|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9677066|PMID:9842995|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ISO RGD:733044 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868|PMID:28492532 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0081370 LADD syndrome ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16501574|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28483234|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:32715658|PMID:33942288|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0081371 lacrimoauriculodentodigital syndrome 2 ISO RGD:733044 D RGD:7240710 20230125 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0081371 lacrimoauriculodentodigital syndrome 2 ISO RGD:733044 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111158 SADDAN ISO RGD:733044 D RGD:7240710 20180418 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111158 SADDAN ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SADDAN dysplasia | ClinVar Annotator: match by term: Severe achondroplasia with developmental delay and acanthosis nigricans PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome ISO RGD:733044 D RGD:7240710 20180130 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Camptodactyly, tall stature, and hearing loss syndrome | ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16199547|PMID:16766665|PMID:16841094|PMID:17033969|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:24728327|PMID:24864036|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:27139183|PMID:28230213|PMID:28252636|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome ISO RGD:733044 D RGD:7240710 20180130 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Crouzon syndrome with acanthosis nigricans | ClinVar Annotator: match by term: Crouzon syndrome-acanthosis nigricans syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11426459|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17576681|PMID:17875876|PMID:17935505|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:18976668|PMID:1908846|PMID:19088846|PMID:19165726|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20199409|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21536014|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:23437153|PMID:24728327|PMID:25157968|PMID:25326635|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7493034|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8858131|PMID:8880573|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9536098|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111162 epidermal nevus ISO RGD:733044 D RGD:7240710 20180130 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111162 epidermal nevus ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12009017|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:24728327|PMID:24863959|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8845844|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9790257|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:0111806 syndromic microphthalmia 5 ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:26467025|PMID:26893459|PMID:28492532 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer ISO RGD:733044 D RGD:7240710 20180130 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11314002|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18000903|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:mutation PMID:18166262|REF_RGD_ID:2301224 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer disease_progression ISO RGD:733044 D RGD:9068941 20200609 RGD protein:increased expression:urinary bladder PMID:18072261|REF_RGD_ID:2301225 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11054 urinary bladder cancer severity ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:mutations PMID:18231634|REF_RGD_ID:2301223 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:1115 sarcoma ISO RGD:733044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sarcoma PMID:25741868|PMID:28492532 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:11166 papillomavirus infectious disease ISO RGD:733044 D RGD:9068941 20211119 RGD associated with head and neck squamous cell carcinoma;DNA:missense mutation:cds: p.S249C (human) PMID:25056374|REF_RGD_ID:38500237 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:12960 acrocephalosyndactylia ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:13481 thanatophoric dysplasia ISO RGD:733044 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thanatophoric dwarfism PMID:10053006|PMID:10471491|PMID:11055896|PMID:11241532|PMID:11429702|PMID:12009017|PMID:12624096|PMID:15843401|PMID:16752380|PMID:16841094|PMID:16912704|PMID:19088846|PMID:19381019|PMID:19855393|PMID:20301540|PMID:20453470|PMID:20704477|PMID:21273588|PMID:21510009|PMID:23972473|PMID:24075385|PMID:24863959|PMID:25157968|PMID:25614871|PMID:25741868|PMID:28492532|PMID:31994750|PMID:33942288|PMID:34930662|PMID:7773297|PMID:8599935|PMID:8754806|PMID:8845844|PMID:9207791|PMID:9677066|PMID:9790257 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:14764 Larsen syndrome ISO RGD:733044 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:10360392|PMID:10361991|PMID:10395236|PMID:10777366|PMID:11055896|PMID:11754059|PMID:12707965|PMID:16912704|PMID:18198189|PMID:19088846|PMID:22045636|PMID:23149434|PMID:23165795|PMID:24715719|PMID:25614871|PMID:25741868|PMID:26380986|PMID:28492532|PMID:7670477|PMID:8589686|PMID:9452043|PMID:9672519 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:14768 Saethre-Chotzen syndrome ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:1520 colon carcinoma ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma PMID:10073901|PMID:10471491|PMID:10607835|PMID:10696568|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11529856|PMID:11879084|PMID:11906172|PMID:12833394|PMID:15517832|PMID:15772091|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17875876|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22045636|PMID:23056398|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32502767|PMID:33942288|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8858131|PMID:9438390|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:1612 breast cancer ISO RGD:733044 D RGD:9068941 20200609 RGD protein:altered localization:even cytoplasmic-nuclear distribution to primarily nuclear PMID:11329138|REF_RGD_ID:2289867 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:1826 epilepsy ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Seizure PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:1856 cherubism ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fibrous dysplasia of jaw PMID:28492532 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2256 osteochondrodysplasia ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:16912704|PMID:18642369|PMID:1908846|PMID:19215249|PMID:20301540|PMID:20420824|PMID:22045636|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:32981126|PMID:7773297|PMID:8640234|PMID:8858131|PMID:9438390|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2339 Crouzon syndrome ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Crouzon disease PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2340 craniosynostosis ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Craniosynostosis, nonspecific PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2671 transitional cell carcinoma ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Transitional cell carcinoma of the bladder PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11429702|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20420824|PMID:20542753|PMID:21273588|PMID:22045636|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:7773297|PMID:8589699|PMID:8640234|PMID:8845844|PMID:8858131|PMID:9438390|PMID:9677066|PMID:9843049 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2871 endometrial carcinoma ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2893 cervix carcinoma ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:missense mutation:CDS:amino acid S249C, only found in 1/51 primary tumors and no cell lines tested implying that mutation frequency is much lower than previously reported PMID:11114733|REF_RGD_ID:2289865 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2893 cervix carcinoma ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:missense mutations:CDS:somatic mutations found in 3/12 (25%) of cervix carcinomas, all mutations are equivalent to activating germline mutations which cause thanatophoric dysplasia PMID:10471491|REF_RGD_ID:2289864 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:2998 testicular cancer ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cancer of the testes PMID:10073901|PMID:10471491|PMID:10607835|PMID:10696568|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15517832|PMID:15772091|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17875876|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22045636|PMID:23056398|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32502767|PMID:33942288|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8858131|PMID:9438390|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:305 carcinoma ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carcinoma PMID:10053006|PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11055896|PMID:11241532|PMID:11426459|PMID:11429702|PMID:11529856|PMID:11879084|PMID:12009017|PMID:12624096|PMID:12833394|PMID:15772091|PMID:15843401|PMID:15880580|PMID:16752380|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17935505|PMID:18642369|PMID:18976668|PMID:1908846|PMID:19088846|PMID:19165726|PMID:19331127|PMID:19381019|PMID:19749790|PMID:19855393|PMID:20199409|PMID:20301540|PMID:20420824|PMID:20453470|PMID:20542753|PMID:20704477|PMID:21273588|PMID:21510009|PMID:21536014|PMID:22045636|PMID:22869148|PMID:23200862|PMID:23437153|PMID:23972473|PMID:24075385|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25326635|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:31994750|PMID:33942288|PMID:34930662|PMID:7493034|PMID:7773297|PMID:8589699|PMID:8599935|PMID:8640234|PMID:8754806|PMID:8845844|PMID:8858131|PMID:8880573|PMID:9207791|PMID:9438390|PMID:9677066|PMID:9843049|PMID:9857065 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3138 acanthosis nigricans ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acanthosis nigricans PMID:11055896|PMID:11314002|PMID:16912704|PMID:17875876|PMID:18000903|PMID:20453470|PMID:21510009|PMID:25157968|PMID:28492532 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3213 demyelinating disease ISO RGD:733045 D RGD:9068941 20200609 RGD protein:increased expression:spinal cord PMID:11020217|REF_RGD_ID:8655565 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3371 chondrosarcoma ISO RGD:620714 D RGD:9068941 20200609 RGD protein:increased expression:growth plate PMID:17907424|REF_RGD_ID:11568634 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3458 breast adenocarcinoma no_association ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:mutation:exons:no mutations found in mutation hotspots in exons 7, 10 or 15 PMID:11466624|REF_RGD_ID:2289868 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3744 cervical squamous cell carcinoma no_association ISO RGD:733044 D RGD:9068941 20200813 RGD DNA:missense mutation:cds: p.S249G (human) PMID:11605053|REF_RGD_ID:38500202 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3907 lung squamous cell carcinoma ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20420824|PMID:22045636|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8640234|PMID:8858131|PMID:9438390|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3910 lung adenocarcinoma ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Adenocarcinoma of lung PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:20420824|PMID:22045636|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8640234|PMID:8858131|PMID:9438390|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:3965 Merkel cell carcinoma ISO RGD:733044 D RGD:9068941 20200813 RGD mRNA:decreased expression:skin (human) PMID:28359267|REF_RGD_ID:38500206 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4006 bladder urothelial carcinoma severity ISO RGD:733044 D RGD:9068941 20200813 RGD protein:increased expression:urothelial cells (human) PMID:28507621|REF_RGD_ID:38500205 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4007 bladder carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Urinary bladder carcinoma PMID:10471491|PMID:11038465|PMID:11055896|PMID:11314002|PMID:11429702|PMID:11879084|PMID:12009017|PMID:15772091|PMID:15880580|PMID:16841094|PMID:16912704|PMID:17384684|PMID:18000903|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20453470|PMID:20542753|PMID:21273588|PMID:21510009|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:24863959|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:7773297|PMID:8589699|PMID:8845844|PMID:9438390|PMID:9790257|PMID:9843049 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4362 cervical cancer ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cancer of cervix | ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4440 seminoma ISO RGD:733044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19855393 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4465 papillary renal cell carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10471491|PMID:11038465|PMID:11429702|PMID:11879084|PMID:15772091|PMID:17384684|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:8589699|PMID:8845844|PMID:9438390|PMID:9843049 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia ISO RGD:733044 D RGD:7240710 20180130 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome PMID:10053006|PMID:10073901|PMID:10094188|PMID:10215410|PMID:10360392|PMID:10360393|PMID:10361991|PMID:10395236|PMID:10425034|PMID:10471491|PMID:10587515|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10777366|PMID:10861678|PMID:10893668|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11754059|PMID:11879084|PMID:12707965|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17256796|PMID:17384684|PMID:17509076|PMID:17526800|PMID:17552943|PMID:17875876|PMID:17895900|PMID:18076102|PMID:18198189|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22339077|PMID:22529939|PMID:22622662|PMID:22628360|PMID:23045425|PMID:23056398|PMID:23149434|PMID:23165795|PMID:23573386|PMID:23972473|PMID:24715719|PMID:24728327|PMID:25157968|PMID:25505835|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25777271|PMID:25809207|PMID:26126848|PMID:26220993|PMID:26380986|PMID:26467025|PMID:26619011|PMID:26740388|PMID:26818779|PMID:26887047|PMID:26992226|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29620724|PMID:29681095|PMID:30138938|PMID:30160829|PMID:30355600|PMID:30692697|PMID:31130284|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:36373817|PMID:36714562|PMID:4697848|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7758520|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8599370|PMID:8640234|PMID:8673103|PMID:8723101|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9450868|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9677066|PMID:9842995|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:4480 achondroplasia severity ISO RGD:733044 D RGD:9068941 20200609 RGD DNA:mutation:cds:p.K650M(human) PMID:10377013|REF_RGD_ID:11568054 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:19381019|PMID:20301540|PMID:25157968|PMID:25606676|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8858131|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:5520 head and neck squamous cell carcinoma ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Head and neck squamous cell carcinoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20420824|PMID:22045636|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8640234|PMID:8858131|PMID:9438390|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:5557 testicular germ cell cancer ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Germ cell tumor of testis PMID:10053006|PMID:10094188|PMID:10425034|PMID:10671061|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:19088846|PMID:19215249|PMID:20301540|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25614871|PMID:25728633|PMID:25741868|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:5834 spermatocytoma ISO RGD:733044 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Spermatocytic seminoma PMID:10053006|PMID:10471491|PMID:11055896|PMID:11241532|PMID:11429702|PMID:12624096|PMID:15843401|PMID:16752380|PMID:16912704|PMID:19088846|PMID:19855393|PMID:20301540|PMID:20453470|PMID:20704477|PMID:21273588|PMID:21510009|PMID:23972473|PMID:24075385|PMID:25614871|PMID:25741868|PMID:28492532|PMID:31994750|PMID:33942288|PMID:34930662|PMID:7773297|PMID:8599935|PMID:8754806|PMID:9207791|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:630 genetic disease ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10094188|PMID:10215410|PMID:10360392|PMID:10361991|PMID:10395236|PMID:10607835|PMID:10777366|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11424131|PMID:11426459|PMID:11746040|PMID:11754059|PMID:12707965|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15915095|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17552943|PMID:17935505|PMID:18198189|PMID:18266238|PMID:18976668|PMID:19088846|PMID:19165726|PMID:19215249|PMID:20199409|PMID:20301331|PMID:20301588|PMID:20301628|PMID:20624921|PMID:21324899|PMID:21536014|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23045425|PMID:23056398|PMID:23149434|PMID:23165795|PMID:23437153|PMID:23972473|PMID:24715719|PMID:24728327|PMID:25326635|PMID:25614871|PMID:25691418|PMID:25741868|PMID:26220993|PMID:26380986|PMID:26467025|PMID:26740388|PMID:26893459|PMID:26992226|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7493034|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8880573|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:6498 seborrheic keratosis ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Keratosis Seborrheica PMID:10073901|PMID:10471491|PMID:10696568|PMID:11038465|PMID:11241532|PMID:11529856|PMID:11879084|PMID:12833394|PMID:15772091|PMID:16841094|PMID:17384684|PMID:18642369|PMID:1908846|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20420824|PMID:22045636|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8589699|PMID:8640234|PMID:8858131|PMID:9438390|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:65 connective tissue disease ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder PMID:10073901|PMID:10360392|PMID:10361991|PMID:10395236|PMID:10471491|PMID:10607835|PMID:10696568|PMID:10777366|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11529856|PMID:11754059|PMID:11879084|PMID:12707965|PMID:12833394|PMID:15517832|PMID:15772091|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17384684|PMID:18198189|PMID:18252861|PMID:18266238|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20420824|PMID:20624921|PMID:21324899|PMID:21739570|PMID:22045636|PMID:23056398|PMID:23149434|PMID:23165795|PMID:24715719|PMID:24728327|PMID:25157968|PMID:25505835|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25741868|PMID:25777271|PMID:26380986|PMID:26467025|PMID:26619011|PMID:26887047|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29593476|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32502767|PMID:33942288|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8858131|PMID:9279764|PMID:9438390|PMID:9452043|PMID:9672519|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:6536 plasma cell neoplasm ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10053006|PMID:10073901|PMID:10471491|PMID:10696568|PMID:11055896|PMID:11241532|PMID:11429702|PMID:11529856|PMID:12624096|PMID:12833394|PMID:15772091|PMID:15843401|PMID:16752380|PMID:16841094|PMID:16912704|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19855393|PMID:20301540|PMID:20420824|PMID:20453470|PMID:20704477|PMID:21273588|PMID:21510009|PMID:22045636|PMID:23972473|PMID:24075385|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:31994750|PMID:33942288|PMID:34930662|PMID:7773297|PMID:8599935|PMID:8640234|PMID:8754806|PMID:8858131|PMID:9207791|PMID:9438390|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:674 cleft palate ISO RGD:733044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:687 hepatoblastoma ISO RGD:733044 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:28492532|PMID:35495172 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:769 neuroblastoma ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:26822237 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:8552 chronic myeloid leukemia ISO RGD:733044 D RGD:9068941 20200806 RGD mRNA:increased expression:peripheral blood (human) PMID:14562121|REF_RGD_ID:36947884 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:8567 Hodgkin's lymphoma ISO RGD:733044 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:28492532|PMID:32934698 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:8649 tongue cancer severity ISO RGD:733044 D RGD:9068941 20200806 RGD associated with human papillomavirus;protein:decreased expression:tumor cells PMID:30061236|REF_RGD_ID:36947883 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:733045 D RGD:9068941 20200609 RGD PMID:27159076|REF_RGD_ID:11568056 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9002862 Craniosynostosis 3 ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Coronal craniosynostosis PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9003373 Uterine Cervical Neoplasms ISO RGD:733044 D RGD:7240710 20180130 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9003571 Paraproteinemias ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Plasma cell dyscrasia PMID:10053006|PMID:10073901|PMID:10471491|PMID:10696568|PMID:11055896|PMID:11241532|PMID:11429702|PMID:11529856|PMID:12624096|PMID:12833394|PMID:15772091|PMID:15843401|PMID:16752380|PMID:16841094|PMID:16912704|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19855393|PMID:20301540|PMID:20420824|PMID:20453470|PMID:20704477|PMID:21273588|PMID:21510009|PMID:22045636|PMID:23972473|PMID:24075385|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:31994750|PMID:33942288|PMID:34930662|PMID:7773297|PMID:8599935|PMID:8640234|PMID:8754806|PMID:8858131|PMID:9207791|PMID:9438390|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733044 D RGD:7240710 20180130 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9003654 Testicular Germ Cell Tumor ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Testicular germ cell tumor PMID:10053006|PMID:10094188|PMID:10425034|PMID:10671061|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:19088846|PMID:19215249|PMID:20301540|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25614871|PMID:25728633|PMID:25741868|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9003766 46, XY Disorders of Sex Development ISO RGD:733044 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: 46,XY disorder of sex development 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9004030 Pituitary Stalk Interruption Syndrome ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pituitary stalk interruption syndrome PMID:25741868 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9004806 Thanatophoric Dysplasia, Type II ISO RGD:733044 D RGD:7240710 20180130 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9004806 Thanatophoric Dysplasia, Type II ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thanatophoric dysplasia with Kleeblattschaedel | ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2 PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11429702|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12624096|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15843401|PMID:15915095|PMID:16752380|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:19855393|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:20704477|PMID:21273588|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:23972473|PMID:24075385|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:34930662|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8599935|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8754806|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9006257 Growth Disorders ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Growth Retardation PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:20420824|PMID:22045636|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8640234|PMID:8858131|PMID:9438390|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9006534 Nervous System Malformations ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9007253 Hamartoma ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hamartoma PMID:10073901|PMID:10471491|PMID:10696568|PMID:11241532|PMID:11529856|PMID:12833394|PMID:15772091|PMID:16841094|PMID:18642369|PMID:1908846|PMID:20301540|PMID:20420824|PMID:22045636|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:7773297|PMID:8640234|PMID:8858131|PMID:9438390|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9007661 Dwarfism ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short stature PMID:10073901|PMID:10360392|PMID:10361991|PMID:10395236|PMID:10471491|PMID:10696568|PMID:10777366|PMID:11055896|PMID:11241532|PMID:11529856|PMID:11754059|PMID:12707965|PMID:12833394|PMID:15772091|PMID:16841094|PMID:16912704|PMID:18198189|PMID:18642369|PMID:1908846|PMID:19088846|PMID:20301540|PMID:20420824|PMID:22045636|PMID:22903874|PMID:23149434|PMID:23165795|PMID:24411048|PMID:24715719|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26380986|PMID:26619011|PMID:28492532|PMID:29595812|PMID:7670477|PMID:7773297|PMID:8589686|PMID:8640234|PMID:8858131|PMID:9438390|PMID:9452043|PMID:9672519|PMID:9677066 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008013 Sporadic Papillary Renal Cell Carcinoma ISO RGD:733044 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic PMID:10471491|PMID:11038465|PMID:11429702|PMID:11879084|PMID:15772091|PMID:17384684|PMID:19088846|PMID:19331127|PMID:19381019|PMID:19749790|PMID:20301540|PMID:20542753|PMID:21273588|PMID:22869148|PMID:23200862|PMID:24419316|PMID:24476948|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28249712|PMID:28492532|PMID:29593476|PMID:30692697|PMID:31299979|PMID:8589699|PMID:8845844|PMID:9438390|PMID:9843049 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008086 Developmental Disabilities ISO RGD:733044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008166 Achondroplastic Dwarfism ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Achondroplastic dwarfism PMID:10053006|PMID:10073901|PMID:10094188|PMID:10215410|PMID:10360392|PMID:10360393|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10777366|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12707965|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17509076|PMID:17526800|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:22628360|PMID:23045425|PMID:23056398|PMID:23165795|PMID:23573386|PMID:23972473|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26220993|PMID:26619011|PMID:26740388|PMID:26818779|PMID:26992226|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29620724|PMID:29681095|PMID:30138938|PMID:30355600|PMID:30692697|PMID:31130284|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:4697848|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589686|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9450868|PMID:9452043|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9672519|PMID:9677066|PMID:9842995|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:10094188|PMID:10861678|PMID:11424131|PMID:11426459|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:17935505|PMID:18976668|PMID:19165726|PMID:19215249|PMID:20199409|PMID:20301588|PMID:20301628|PMID:21536014|PMID:22016144|PMID:22622662|PMID:23437153|PMID:24728327|PMID:25326635|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:7493034|PMID:8723106|PMID:8841188|PMID:8880573|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008443 Colorectal Neoplasms ISO RGD:733044 D RGD:9068941 20200806 CTD CTD Direct Evidence: marker/mechanism 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008797 Facial Asymmetry ISO RGD:733044 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Facial asymmetry PMID:10094188|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17552943|PMID:19215249|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25741868|PMID:26740388|PMID:28492532|PMID:32238909|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008968 Thanatophoric Dysplasia, Type I ISO RGD:733044 D RGD:7240710 20180130 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9008968 Thanatophoric Dysplasia, Type I ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11429702|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12009017|PMID:12624096|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15843401|PMID:15915095|PMID:16752380|PMID:16766665|PMID:16841094|PMID:16912704|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19331127|PMID:19381019|PMID:19749790|PMID:19855393|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20542753|PMID:20624921|PMID:20704477|PMID:21273588|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:22869148|PMID:23056398|PMID:23200862|PMID:23972473|PMID:24075385|PMID:24419316|PMID:24476948|PMID:24728327|PMID:24863959|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28249712|PMID:28492532|PMID:28777845|PMID:29593476|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:34930662|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8599935|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8754806|PMID:8841188|PMID:8845844|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9790257|PMID:9843049|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9009116 Urinary Bladder Neoplasm ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Urinary Bladder Neoplasms PMID:10053006|PMID:10073901|PMID:10094188|PMID:10425034|PMID:10471491|PMID:10607835|PMID:10671061|PMID:10696568|PMID:10861678|PMID:10979354|PMID:11030304|PMID:11038465|PMID:11055896|PMID:11186939|PMID:11186940|PMID:11241532|PMID:11424131|PMID:11529856|PMID:11746040|PMID:11879084|PMID:12833394|PMID:14613973|PMID:15241680|PMID:15517832|PMID:15772091|PMID:15915095|PMID:16766665|PMID:16841094|PMID:17384684|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:18266238|PMID:18583390|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19215249|PMID:19381019|PMID:19749790|PMID:20301331|PMID:20301540|PMID:20301588|PMID:20301628|PMID:20420824|PMID:20453470|PMID:20624921|PMID:21324899|PMID:21510009|PMID:21739570|PMID:22016144|PMID:22045636|PMID:22622662|PMID:23056398|PMID:24728327|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25691418|PMID:25728633|PMID:25741868|PMID:25809207|PMID:26619011|PMID:26740388|PMID:26818779|PMID:28230213|PMID:28492532|PMID:28777845|PMID:29681095|PMID:30138938|PMID:30692697|PMID:31218223|PMID:31299979|PMID:31994750|PMID:32238909|PMID:32502767|PMID:33942288|PMID:7647778|PMID:7649548|PMID:7670477|PMID:7702086|PMID:7773297|PMID:7847369|PMID:7913883|PMID:8078586|PMID:8589699|PMID:8640234|PMID:8673103|PMID:8723106|PMID:8841188|PMID:8858131|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9438390|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9677066|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9256 colorectal cancer ISO RGD:733044 D RGD:7240710 20200226 OMIM 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9256 colorectal cancer ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Malignant Colorectal Neoplasm PMID:10053006|PMID:10094188|PMID:10425034|PMID:10671061|PMID:10861678|PMID:11424131|PMID:11746040|PMID:14613973|PMID:15241680|PMID:15915095|PMID:17509076|PMID:17552943|PMID:17875876|PMID:18076102|PMID:19088846|PMID:19215249|PMID:20301540|PMID:20301588|PMID:20301628|PMID:22016144|PMID:22622662|PMID:24728327|PMID:25614871|PMID:25728633|PMID:25741868|PMID:26740388|PMID:26818779|PMID:28492532|PMID:32238909|PMID:7647778|PMID:8723106|PMID:8841188|PMID:9042914|PMID:9107244|PMID:9207791|PMID:9279753|PMID:9279764|PMID:9525367|PMID:9580776|PMID:9585583|PMID:9600744|PMID:9843059|PMID:9857065|PMID:9950359 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9296 cleft lip ISO RGD:733044 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17963255 9065689 Fgfr3 fibroblast growth factor receptor 3 gene DOID:9538 multiple myeloma ISO RGD:733044 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myelomatosis PMID:10053006|PMID:10073901|PMID:10471491|PMID:10696568|PMID:11055896|PMID:11241532|PMID:11429702|PMID:11529856|PMID:12624096|PMID:12833394|PMID:15772091|PMID:15843401|PMID:16752380|PMID:16841094|PMID:16912704|PMID:18642369|PMID:1908846|PMID:19088846|PMID:19855393|PMID:20301540|PMID:20420824|PMID:20453470|PMID:20704477|PMID:21273588|PMID:21510009|PMID:22045636|PMID:23972473|PMID:24075385|PMID:25157968|PMID:25606676|PMID:25614871|PMID:25741868|PMID:26619011|PMID:28492532|PMID:31994750|PMID:33942288|PMID:34930662|PMID:7773297|PMID:8599935|PMID:8640234|PMID:8754806|PMID:8858131|PMID:9207791|PMID:9438390|PMID:9677066 9065738 Spesp1 sperm equatorial segment protein 1 gene DOID:2717 Bloom syndrome ISO RGD:1349587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9065738 Spesp1 sperm equatorial segment protein 1 gene DOID:630 genetic disease ISO RGD:1349587 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065738 Spesp1 sperm equatorial segment protein 1 gene DOID:9256 colorectal cancer ISO RGD:1349587 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9065747 Stard10 StAR related lipid transfer domain containing 10 gene DOID:0081134 3-methylglutaconic aciduria type 7b ISO RGD:1315225 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:28492532 9065747 Stard10 StAR related lipid transfer domain containing 10 gene DOID:1059 intellectual disability ISO RGD:1315225 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9065747 Stard10 StAR related lipid transfer domain containing 10 gene DOID:630 genetic disease ISO RGD:1315225 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065747 Stard10 StAR related lipid transfer domain containing 10 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1315225 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17013881 9065764 Mixl1 Mix paired-like homeobox gene DOID:1540 parathyroid carcinoma ISO RGD:1320666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9065764 Mixl1 Mix paired-like homeobox gene DOID:630 genetic disease ISO RGD:1320666 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065764 Mixl1 Mix paired-like homeobox gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1320666 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0050117 disease by infectious agent treatment ISO RGD:1342473 D RGD:9068941 20221006 RGD associated with lung non-small cell carcinoma;DNA:missense mutation:CDS:p.D1104H (human) PMID:23118991|REF_RGD_ID:155260358 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0050427 xeroderma pigmentosum ISO RGD:1342473 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:11841555|PMID:23370536|PMID:24033266|PMID:24700531|PMID:2478446|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29130490|PMID:29749609|PMID:30838033|PMID:31130284|PMID:32522879|PMID:7951246|PMID:8317483|PMID:9096355 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0080763 diffuse gastric cancer ameliorates ISO RGD:1342473 D RGD:9068941 20221006 RGD mRNA:increased expression:stomach (human) PMID:30417012|REF_RGD_ID:155260342 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0080913 cerebrooculofacioskeletal syndrome 3 ISO RGD:1342473 D RGD:7240710 20180130 OMIM 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0080913 cerebrooculofacioskeletal syndrome 3 ISO RGD:1342473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 3 PMID:11443545|PMID:17466625|PMID:17576681|PMID:24700531|PMID:24728327|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30306255|PMID:30838033|PMID:31130284|PMID:8818951|PMID:9096355|PMID:9536098 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0110849 xeroderma pigmentosum group G ISO RGD:1342473 D RGD:7240710 20180130 OMIM 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0110849 xeroderma pigmentosum group G ISO RGD:1342473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group G PMID:10026181|PMID:11219864|PMID:11841555|PMID:12060391|PMID:15082767|PMID:15682379|PMID:16550608|PMID:17466625|PMID:22821389|PMID:23255472|PMID:23370536|PMID:24033266|PMID:24354460|PMID:24700531|PMID:24728327|PMID:25714468|PMID:25741868|PMID:25795128|PMID:26149386|PMID:26580448|PMID:26884178|PMID:27104957|PMID:28492532|PMID:28654958|PMID:29641532|PMID:29891518|PMID:30086788|PMID:30306255|PMID:32522879|PMID:33219753|PMID:492197|PMID:698095|PMID:7951246|PMID:9096355 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:0110878 holoprosencephaly 5 ISO RGD:1342473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:28492532 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:10534 stomach cancer ameliorates ISO RGD:1342473 D RGD:9068941 20221006 RGD DNA:SNP:intron: (rs2094258) (human) PMID:27340861|REF_RGD_ID:155260339 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:1324 lung cancer susceptibility ISO RGD:1342473 D RGD:9068941 20221006 RGD mRNA:decreased expression:lung (human) PMID:10910954|REF_RGD_ID:155260338 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:14701 propionic acidemia ISO RGD:1342473 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:1909 melanoma disease_progression ISO RGD:1342473 D RGD:9068941 20200609 RGD DNA:polymorphism:exon:p.D1104H(human) PMID:21390047|REF_RGD_ID:12880434 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:2394 ovarian cancer ISO RGD:1342473 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ovarian cancer PMID:24728327|PMID:25741868|PMID:28492532 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:2596 larynx cancer susceptibility ISO RGD:1342473 D RGD:9068941 20221006 RGD DNA:missense mutation:CDS:p.D1104H (human) PMID:19444904|REF_RGD_ID:155260337 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:2962 Cockayne syndrome ISO RGD:1342473 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum and Cockayne syndrome complex | ClinVar Annotator: match by term: Xeroderma pigmentosum group G/Cockayne syndrome PMID:11228268|PMID:2478446|PMID:25741868|PMID:30838033|PMID:8317483|PMID:9096355 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:3070 high grade glioma susceptibility ISO RGD:1342473 D RGD:9068941 20231026 RGD DNA:SNP:cd: p.D1558H (rs17655) (human) PMID:23534771|REF_RGD_ID:401850601 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342473 D RGD:9068941 20220121 RGD PMID:24782167|REF_RGD_ID:151347410 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:3908 lung non-small cell carcinoma treatment ISO RGD:1342473 D RGD:9068941 20221006 RGD DNA:SNPs:multiple (human) PMID:28924235|REF_RGD_ID:153323316 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:630 genetic disease ISO RGD:1342473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12060391|PMID:23255472|PMID:23370536|PMID:24728327|PMID:25741868|PMID:25795128|PMID:26149386|PMID:28492532|PMID:30086788|PMID:30306255|PMID:32522879 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:687 hepatoblastoma ISO RGD:1342473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:9000397 Genetic Predisposition to Disease ISO RGD:1342473 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34182385 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:9002979 Anal Atresia, Hypospadias, and Penoscrotal Inversion ISO RGD:1342473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion PMID:31690835 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1342473 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15682379|PMID:16550608|PMID:22821389|PMID:24728327|PMID:25741868|PMID:26580448|PMID:27104957|PMID:27356891|PMID:28492532|PMID:29641532|PMID:29891518|PMID:30086788|PMID:30306255|PMID:32127467|PMID:34130653 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:9008443 Colorectal Neoplasms ISO RGD:1342473 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:34182385 9065783 Ercc5 ERCC excision repair 5, endonuclease gene DOID:9009063 Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency ISO RGD:1342473 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency PMID:25414442|PMID:28492532 9065802 LOC102029382 cytochrome b5 domain-containing protein 1 gene DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:28492532|PMID:9973285 9065802 LOC102029382 cytochrome b5 domain-containing protein 1 gene DOID:12177 common variable immunodeficiency ISO RGD:1603917 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency PMID:28492532 9065802 LOC102029382 cytochrome b5 domain-containing protein 1 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1603917 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 9065802 LOC102029382 cytochrome b5 domain-containing protein 1 gene DOID:2729 dyskeratosis congenita ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:28492532 9065802 LOC102029382 cytochrome b5 domain-containing protein 1 gene DOID:3012 Li-Fraumeni syndrome ISO RGD:1603917 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:20522432|PMID:21056402|PMID:22267198|PMID:22387016|PMID:23172776|PMID:26681312|PMID:28369373|PMID:28492532 9065802 LOC102029382 cytochrome b5 domain-containing protein 1 gene DOID:630 genetic disease ISO RGD:1603917 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065816 Slc35f5 solute carrier family 35 member F5 gene DOID:630 genetic disease ISO RGD:1317716 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065833 Edil3 EGF like repeats and discoidin domains 3 gene DOID:630 genetic disease ISO RGD:1343635 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065833 Edil3 EGF like repeats and discoidin domains 3 gene DOID:8398 osteoarthritis ISO RGD:1343635 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 9065833 Edil3 EGF like repeats and discoidin domains 3 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1343635 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9065848 Cstl1 cystatin like 1 gene DOID:630 genetic disease ISO RGD:1316602 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065856 Extl2 exostosin like glycosyltransferase 2 gene DOID:1826 epilepsy ISO RGD:1317015 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9065856 Extl2 exostosin like glycosyltransferase 2 gene DOID:630 genetic disease ISO RGD:1317015 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065856 Extl2 exostosin like glycosyltransferase 2 gene DOID:9269 maple syrup urine disease ISO RGD:1317015 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 9065878 Nono non-POU domain containing octamer binding gene DOID:0050700 cardiomyopathy ISO RGD:1343083 D RGD:9068941 20230128 RGD DNA:SNPs:nonsense mutations, splice-site mutation:CDS, intron:c.457C>T, c.550C>T, c.1171+1G>A (human) PMID:31883306|REF_RGD_ID:155882460 9065878 Nono non-POU domain containing octamer binding gene DOID:0050902 medulloblastoma ISO RGD:1343083 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868|PMID:26822237 9065878 Nono non-POU domain containing octamer binding gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:1343083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:28492532 9065878 Nono non-POU domain containing octamer binding gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1343083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9065878 Nono non-POU domain containing octamer binding gene DOID:0060817 syndromic X-linked intellectual disability 34 ISO RGD:1343083 D RGD:7240710 20190315 OMIM 9065878 Nono non-POU domain containing octamer binding gene DOID:0060817 syndromic X-linked intellectual disability 34 ISO RGD:1343083 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 PMID:25741868|PMID:26571461|PMID:26822237|PMID:27329731|PMID:27550220|PMID:28492532|PMID:31883306|PMID:32238909 9065878 Nono non-POU domain containing octamer binding gene DOID:0080685 aortic dissection ISO RGD:1343083 D RGD:9068941 20230128 RGD mRNA, protein:decreased expression:aorta wall (human) PMID:24720418|REF_RGD_ID:155882452 9065878 Nono non-POU domain containing octamer binding gene DOID:1059 intellectual disability ISO RGD:1343083 D RGD:9068941 20230128 RGD DNA:nonsense mutation, silent mutation, frameshift mutation:CDS:p.R365*, p.A377A, p.N466Kfs*13 (human) PMID:26571461|REF_RGD_ID:11058183 9065878 Nono non-POU domain containing octamer binding gene DOID:1059 intellectual disability ISO RGD:1343083 D RGD:9068941 20230216 RGD DNA:missense mutation:CDS:p.P459A (human) PMID:36653413|REF_RGD_ID:155900764 9065878 Nono non-POU domain containing octamer binding gene DOID:10603 glucose intolerance ISO RGD:1343083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29358041 9065878 Nono non-POU domain containing octamer binding gene DOID:12849 autistic disorder ISO RGD:1343083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9065878 Nono non-POU domain containing octamer binding gene DOID:1682 congenital heart disease ISO RGD:1343083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Heart, malformation of PMID:25741868|PMID:27550220|PMID:31680349 9065878 Nono non-POU domain containing octamer binding gene DOID:1936 atherosclerosis ISO RGD:1343083 D RGD:9068941 20230216 RGD mRNA, protein:increased expression:coronary artery (human) PMID:33626912|REF_RGD_ID:155900763 9065878 Nono non-POU domain containing octamer binding gene DOID:1936 atherosclerosis severity ISO RGD:1557128 D RGD:9068941 20230128 RGD PMID:29673854|REF_RGD_ID:155882449 9065878 Nono non-POU domain containing octamer binding gene DOID:2154 nephroblastoma ISO RGD:1343083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28825729 9065878 Nono non-POU domain containing octamer binding gene DOID:224 transient cerebral ischemia ISO RGD:1557128 D RGD:9068941 20230209 RGD protein:altered localization:cerebral cortex (mouse) PMID:29426953|REF_RGD_ID:155883175 9065878 Nono non-POU domain containing octamer binding gene DOID:2377 multiple sclerosis ISO RGD:1343083 D RGD:9068941 20230218 RGD mRNA:altered expression:peripheral blood mononuclear cell (human) PMID:29100048|REF_RGD_ID:156420155 9065878 Nono non-POU domain containing octamer binding gene DOID:5844 myocardial infarction ameliorates ISO RGD:1557128 D RGD:9068941 20230128 RGD PMID:35247074|REF_RGD_ID:155882458 9065878 Nono non-POU domain containing octamer binding gene DOID:630 genetic disease ISO RGD:1343083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22416126|PMID:25741868|PMID:26571461|PMID:28492532 9065878 Nono non-POU domain containing octamer binding gene DOID:7693 abdominal aortic aneurysm ameliorates ISO RGD:1557128 D RGD:9068941 20230128 RGD PMID:31512366|REF_RGD_ID:155882451 9065878 Nono non-POU domain containing octamer binding gene DOID:9003139 Cardiac Fibrosis ISO RGD:1557128 D RGD:9068941 20230128 RGD PMID:31634484|REF_RGD_ID:155882450 9065878 Nono non-POU domain containing octamer binding gene DOID:9006182 Carotid Artery Injuries ameliorates ISO RGD:1557128 D RGD:9068941 20230216 RGD PMID:33626912|REF_RGD_ID:155900763 9065878 Nono non-POU domain containing octamer binding gene DOID:9006385 Congenital Heart Defects, X-Linked ISO RGD:1343083 D RGD:9068941 20230128 RGD DNA:nonsense mutation, frameshift mutation, deletion:CDS, exons:p.R365*, p.N466Kfs*13, (human) PMID:27550220|REF_RGD_ID:155882461 9065878 Nono non-POU domain containing octamer binding gene DOID:9007898 FG Syndrome 1 ISO RGD:1343083 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 9065878 Nono non-POU domain containing octamer binding gene DOID:9008086 Developmental Disabilities ISO RGD:1343083 D RGD:9068941 20230216 RGD DNA:missense mutation:CDS:p.P459A (human) PMID:36653413|REF_RGD_ID:155900764 9065878 Nono non-POU domain containing octamer binding gene DOID:9538 multiple myeloma exacerbates ISO RGD:1343083 D RGD:9068941 20230216 RGD mRNA:increased expression: (human) PMID:32410217|REF_RGD_ID:155900765 9065897 Sox18 SRY-box transcription factor 18 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1323321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9065897 Sox18 SRY-box transcription factor 18 gene DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex ISO RGD:1323321 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:25741868|PMID:28492532 9065897 Sox18 SRY-box transcription factor 18 gene DOID:0080463 developmental and epileptic encephalopathy 33 ISO RGD:1323321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9065897 Sox18 SRY-box transcription factor 18 gene DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ISO RGD:1323321 D RGD:7240710 20180405 OMIM 9065897 Sox18 SRY-box transcription factor 18 gene DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ISO RGD:1323321 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome PMID:12740761|PMID:24697860|PMID:2484451|PMID:25741868|PMID:28492532|PMID:29307792 9065897 Sox18 SRY-box transcription factor 18 gene DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome ISO RGD:1323321 D RGD:7240710 20180130 OMIM 9065897 Sox18 SRY-box transcription factor 18 gene DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome ISO RGD:1323321 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome PMID:11701398|PMID:12740761|PMID:24697860|PMID:26148450 9065897 Sox18 SRY-box transcription factor 18 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1323321 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24811917|PMID:25921748|PMID:28492532|PMID:30866059 9065897 Sox18 SRY-box transcription factor 18 gene DOID:37 skin disease ISO RGD:1323321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9065897 Sox18 SRY-box transcription factor 18 gene DOID:630 genetic disease ISO RGD:1323321 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9065897 Sox18 SRY-box transcription factor 18 gene DOID:9007964 Arsenic Poisoning ISO RGD:1323321 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16835338 9065904 Fezf1 FEZ family zinc finger 1 gene DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia ISO RGD:1604689 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia PMID:25741868|PMID:28492532 9065904 Fezf1 FEZ family zinc finger 1 gene DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia ISO RGD:1604689 D RGD:7240710 20180130 OMIM 9065904 Fezf1 FEZ family zinc finger 1 gene DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia ISO RGD:1604689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with or without anosmia PMID:25192046|PMID:25741868 9065904 Fezf1 FEZ family zinc finger 1 gene DOID:13938 amenorrhea ISO RGD:1604689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:32870266 9065904 Fezf1 FEZ family zinc finger 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1604689 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9065904 Fezf1 FEZ family zinc finger 1 gene DOID:630 genetic disease ISO RGD:1604689 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065926 Drd4 dopamine receptor D4 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:28492532 9065926 Drd4 dopamine receptor D4 gene DOID:0050729 Chanarin-Dorfman syndrome ISO RGD:736138 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neutral lipid storage myopathy PMID:28492532 9065926 Drd4 dopamine receptor D4 gene DOID:0050741 alcohol dependence no_association ISO RGD:736138 D RGD:9068941 20240201 RGD DNA:repeats:exon: PMID:9342196|REF_RGD_ID:401959738 9065926 Drd4 dopamine receptor D4 gene DOID:0060040 pervasive developmental disorder ISO RGD:736138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 9065926 Drd4 dopamine receptor D4 gene DOID:0060040 pervasive developmental disorder ISO RGD:736138 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:21906006|REF_RGD_ID:5686422 9065926 Drd4 dopamine receptor D4 gene DOID:0060041 autism spectrum disorder ISO RGD:736138 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9065926 Drd4 dopamine receptor D4 gene DOID:0080773 delta beta-thalassemia ISO RGD:736138 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta PMID:2798417 9065926 Drd4 dopamine receptor D4 gene DOID:0111969 immunodeficiency 39 ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:28492532 9065926 Drd4 dopamine receptor D4 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 9065926 Drd4 dopamine receptor D4 gene DOID:1059 intellectual disability ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:snps, haplotype:promoter:c.-906T>C, c.-809A>G (rs3758653, rs936461) (human) PMID:22366260|REF_RGD_ID:13209013 9065926 Drd4 dopamine receptor D4 gene DOID:10652 Alzheimer's disease ISO RGD:736138 D RGD:9068941 20200609 RGD protein:decreased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 9065926 Drd4 dopamine receptor D4 gene DOID:10685 separation anxiety disorder ISO RGD:736138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 9065926 Drd4 dopamine receptor D4 gene DOID:10939 antisocial personality disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:17587443|REF_RGD_ID:13210585 9065926 Drd4 dopamine receptor D4 gene DOID:10939 antisocial personality disorder susceptibility ISO RGD:736138 D RGD:9068941 20240201 RGD associated exposure to substance use;DNA:repeats:exon: PMID:26648004|REF_RGD_ID:401959736 9065926 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736138 D RGD:7240710 20180130 OMIM 9065926 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736138 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: HYPERACTIVITY OF CHILDHOOD PMID:10654656|PMID:20644990|PMID:25262643|PMID:25741868|PMID:29781347|PMID:30099719|PMID:36211978 9065926 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:10898895|REF_RGD_ID:7248607 9065926 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:promoter:g.-1480_-1240dup (human) PMID:11449395|REF_RGD_ID:13210510 9065926 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-521G>A (human) PMID:15389764|REF_RGD_ID:13210521 9065926 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:17679637|REF_RGD_ID:13210507 9065926 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder severity ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:snp:promoter:g.-521G>A (human) PMID:15909295|REF_RGD_ID:13210511 9065926 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:736138 D RGD:9068941 20200806 RGD DNA:repeats: : PMID:9118321|REF_RGD_ID:1358608 9065926 Drd4 dopamine receptor D4 gene DOID:1094 attention deficit hyperactivity disorder treatment ISO RGD:737381|RGD:1312823 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:23083021|REF_RGD_ID:13210577 9065926 Drd4 dopamine receptor D4 gene DOID:11119 Gilles de la Tourette syndrome no_association ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:8725747|REF_RGD_ID:13210516 9065926 Drd4 dopamine receptor D4 gene DOID:11119 Gilles de la Tourette syndrome susceptibility ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:25258183|REF_RGD_ID:13209010 9065926 Drd4 dopamine receptor D4 gene DOID:11206 opioid abuse ISO RGD:736138 D RGD:9068941 20240201 RGD association with inhaler;DNA:repeats:exon: PMID:11054768|REF_RGD_ID:401960062 9065926 Drd4 dopamine receptor D4 gene DOID:11465 autonomic nervous system disease ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autonomic nervous system dysfunction PMID:7881421 9065926 Drd4 dopamine receptor D4 gene DOID:12399 pathological gambling ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:10402503|REF_RGD_ID:13210523 9065926 Drd4 dopamine receptor D4 gene DOID:12995 conduct disorder ISO RGD:736796 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:17587443|REF_RGD_ID:13210585 9065926 Drd4 dopamine receptor D4 gene DOID:14503 neuronal ceroid lipofuscinosis ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 9065926 Drd4 dopamine receptor D4 gene DOID:1574 alcohol use disorder susceptibility ISO RGD:736138 D RGD:9068941 20240127 RGD associated with peer pressure;DNA:repeats:exon: PMID:26307243|REF_RGD_ID:401959598 9065926 Drd4 dopamine receptor D4 gene DOID:1574 alcohol use disorder treatment ISO RGD:736138 D RGD:9068941 20240127 RGD DNA:repeats:exon: PMID:25640830|REF_RGD_ID:11064848 9065926 Drd4 dopamine receptor D4 gene DOID:2769 tic disorder ISO RGD:736138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 9065926 Drd4 dopamine receptor D4 gene DOID:302 substance abuse ISO RGD:736138 D RGD:9068941 20240127 RGD associated with depressive disorder;DNA:repeats:exon: PMID:34828440|REF_RGD_ID:401959596 9065926 Drd4 dopamine receptor D4 gene DOID:302 substance abuse onset ISO RGD:736138 D RGD:9068941 20240127 RGD DNA:duplication:promoter: 120bp repeat PMID:33544778|REF_RGD_ID:401959602 9065926 Drd4 dopamine receptor D4 gene DOID:4428 dyslexia ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:14755455|REF_RGD_ID:13209014 9065926 Drd4 dopamine receptor D4 gene DOID:5082 liver cirrhosis disease_progression ISO RGD:736138 D RGD:9068941 20240201 RGD DNA:repeats:exon: PMID:23298155|REF_RGD_ID:401959737 9065926 Drd4 dopamine receptor D4 gene DOID:5419 schizophrenia ISO RGD:736138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18583979 9065926 Drd4 dopamine receptor D4 gene DOID:5419 schizophrenia ISO RGD:736138 D RGD:9068941 20200609 RGD protein:increased expression:striatum (human) PMID:8413587|REF_RGD_ID:13209006 9065926 Drd4 dopamine receptor D4 gene DOID:630 genetic disease ISO RGD:736138 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10654656|PMID:20644990|PMID:25262643|PMID:29781347|PMID:30099719|PMID:36211978 9065926 Drd4 dopamine receptor D4 gene DOID:670 amphetamine abuse ISO RGD:736138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15274053 9065926 Drd4 dopamine receptor D4 gene DOID:9001310 Tobacco Use Disorder susceptibility ISO RGD:736138 D RGD:9068941 20240201 RGD DNA:repeats:exon: PMID:31903031|REF_RGD_ID:401959740 9065926 Drd4 dopamine receptor D4 gene DOID:9002362 Hyperkinesis ISO RGD:2522 D RGD:9068941 20240201 RGD mRNA:decreased expression:midbrain PMID:12459514|REF_RGD_ID:401960114 9065926 Drd4 dopamine receptor D4 gene DOID:9002362 Hyperkinesis ameliorates ISO RGD:2522 D RGD:9068941 20240201 RGD PMID:11967637|REF_RGD_ID:401960108 9065926 Drd4 dopamine receptor D4 gene DOID:9002514 Neointima treatment ISO RGD:2522 D RGD:9068941 20200609 RGD associated with type 2 diabetes mellitus PMID:24888351|REF_RGD_ID:13506962 9065926 Drd4 dopamine receptor D4 gene DOID:9002735 alcohol withdrawal syndrome severity ISO RGD:736138 D RGD:9068941 20240222 RGD DNA:repeats:exon: PMID:20359751|REF_RGD_ID:401959612 9065926 Drd4 dopamine receptor D4 gene DOID:9003410 Novelty Seeking Personality Trait ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication:exon:g.2689_2737dup (human) PMID:15517431|REF_RGD_ID:13210514 9065926 Drd4 dopamine receptor D4 gene DOID:9003410 Novelty Seeking Personality Trait ISO RGD:736138 D RGD:9068941 20240127 RGD associated with alcohol dependence;DNA:repeats:exon: PMID:15900228|REF_RGD_ID:401959593 9065926 Drd4 dopamine receptor D4 gene DOID:9004035 Segawa Syndrome, Autosomal Recessive ISO RGD:736138 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:28492532 9065926 Drd4 dopamine receptor D4 gene DOID:9004956 Nocturnal Enuresis ISO RGD:736138 D RGD:9068941 20200609 RGD DNA:duplication, polymorphisms, haplotype:promoter:g.-1480_-1240dup, g.-616C>G, g.-521C>T (human) PMID:18947481|REF_RGD_ID:7248549 9065926 Drd4 dopamine receptor D4 gene DOID:9006302 Binge Drinking susceptibility ISO RGD:736138 D RGD:9068941 20240201 RGD DNA:repeats:exon: PMID:19393859|REF_RGD_ID:401960068 9065926 Drd4 dopamine receptor D4 gene DOID:9007872 Reactive Attachment Disorder susceptibility ISO RGD:736138 D RGD:9068941 20200806 RGD DNA:repeats: : PMID:11126393|REF_RGD_ID:36947393 9065926 Drd4 dopamine receptor D4 gene DOID:9007892 Tics ISO RGD:736138 D RGD:9068941 20200609 RGD associated with Obsessive-Compulsive Disorder;DNA:duplication:exon:g.2689_2737dup (human) PMID:9280153|REF_RGD_ID:13210517 9065926 Drd4 dopamine receptor D4 gene DOID:9008953 Binge-Eating Disorder ISO RGD:2522 D RGD:9068941 20200609 RGD PMID:28821448|REF_RGD_ID:13506951 9065926 Drd4 dopamine receptor D4 gene DOID:9008967 Brain Concussion ISO RGD:2522 D RGD:9068941 20200609 RGD PMID:26448536|REF_RGD_ID:13506960 9065926 Drd4 dopamine receptor D4 gene DOID:9009161 Attention Deficit and Disruptive Behavior Disorders ISO RGD:736138 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20731709 9065926 Drd4 dopamine receptor D4 gene DOID:9009161 Attention Deficit and Disruptive Behavior Disorders ISO RGD:736138 D RGD:9068941 20200609 RGD associated with Attention Deficit Disorder with Hyperactivity;DNA:snp:promoter:g.-521C>T (human) PMID:17572775|REF_RGD_ID:13210522 9065926 Drd4 dopamine receptor D4 gene DOID:9505 cannabis abuse susceptibility ISO RGD:736138 D RGD:9068941 20240127 RGD DNA:duplication:promoter: 120bp repeat PMID:33544778|REF_RGD_ID:401959602 9065926 Drd4 dopamine receptor D4 gene DOID:9970 obesity ISO RGD:2522 D RGD:9068941 20200609 RGD protein:decreased expression:kidney (rat) PMID:20810614|REF_RGD_ID:7248616 9065926 Drd4 dopamine receptor D4 gene DOID:9976 heroin dependence onset ISO RGD:736138 D RGD:9068941 20240127 RGD DNA:SNP,methylation::rs3758653(human) PMID:34864042|REF_RGD_ID:401959595 9065926 Drd4 dopamine receptor D4 gene DOID:9976 heroin dependence susceptibility ISO RGD:736138 D RGD:9068941 20240118 RGD DNA:SNPs:5promoter:rs1800955,rs936462(human) PMID:23840506|REF_RGD_ID:401959223 9065926 Drd4 dopamine receptor D4 gene DOID:9976 heroin dependence susceptibility ISO RGD:736138 D RGD:9068941 20240127 RGD DNA:polymorphism:promoter:-521G>A(human) PMID:18991844|REF_RGD_ID:401959594 9065935 Hoxd12 homeobox D12 gene DOID:0090022 split hand-foot malformation 5 ISO RGD:1320327 D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 5 PMID:25741868 9065935 Hoxd12 homeobox D12 gene DOID:11836 clubfoot ISO RGD:1320327 D RGD:9068941 20200609 RGD DNA:SNP:5' utr:rs847154 (human) PMID:16331564|REF_RGD_ID:12743594 9065935 Hoxd12 homeobox D12 gene DOID:1909 melanoma ISO RGD:1320327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16778180 9065935 Hoxd12 homeobox D12 gene DOID:630 genetic disease ISO RGD:1320327 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065935 Hoxd12 homeobox D12 gene DOID:9006294 Congenital Limb Deformities ISO RGD:1320327 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19108020|PMID:8620844 9065939 Tmem123 transmembrane protein 123 gene DOID:0050592 asphyxiating thoracic dystrophy ISO RGD:1605596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:24781753|PMID:28492532|PMID:31413057|PMID:32753734 9065939 Tmem123 transmembrane protein 123 gene DOID:0080600 COVID-19 ISO RGD:1605596 D RGD:9068941 20200618 RGD mRNA:increased expression:bronchoalveolar lavage (human) PMID:32407669|REF_RGD_ID:30296672 9065939 Tmem123 transmembrane protein 123 gene DOID:1059 intellectual disability ISO RGD:1605596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9065939 Tmem123 transmembrane protein 123 gene DOID:12704 ataxia telangiectasia ISO RGD:1605596 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:23807571|PMID:25614872|PMID:28492532 9065939 Tmem123 transmembrane protein 123 gene DOID:630 genetic disease ISO RGD:1605596 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065947 Aga aspartylglucosaminidase gene DOID:0050461 aspartylglucosaminuria ISO RGD:1320096 D RGD:7240710 20180130 OMIM 9065947 Aga aspartylglucosaminidase gene DOID:0050461 aspartylglucosaminuria ISO RGD:1320096 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Aspartylglucosaminuria | ClinVar Annotator: match by term: Aspartylglucosaminuria, finnish type PMID:10399108|PMID:10571008|PMID:11309371|PMID:11754099|PMID:1427775|PMID:15365992|PMID:1559710|PMID:16199547|PMID:1703489|PMID:1722323|PMID:1756604|PMID:17576681|PMID:1765378|PMID:1879549|PMID:18992224|PMID:1904874|PMID:2011603|PMID:21228398|PMID:23271757|PMID:24033266|PMID:25456816|PMID:25525159|PMID:25741868|PMID:27876883|PMID:2811876|PMID:28492532|PMID:29247835|PMID:29930972|PMID:29993127|PMID:30564628|PMID:33439067|PMID:6883788|PMID:7627186|PMID:7881426|PMID:8064811|PMID:8172656|PMID:8457202|PMID:8702913|PMID:8776587|PMID:8830180|PMID:9137882|PMID:9536098|PMID:9737998|PMID:9742145 9065947 Aga aspartylglucosaminidase gene DOID:1059 intellectual disability ISO RGD:1320096 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:11309371|PMID:1722323|PMID:18992224|PMID:25456816|PMID:25741868|PMID:28492532|PMID:9737998 9065947 Aga aspartylglucosaminidase gene DOID:3211 lysosomal storage disease susceptibility ISO RGD:1320096 D RGD:9068941 20200609 RGD PMID:1703489|REF_RGD_ID:1598773 9065947 Aga aspartylglucosaminidase gene DOID:630 genetic disease ISO RGD:1320096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11309371|PMID:1722323|PMID:25741868|PMID:28492532|PMID:29247835|PMID:7627186 9065947 Aga aspartylglucosaminidase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1320096 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:11309371|PMID:1722323|PMID:18992224|PMID:25456816|PMID:25741868|PMID:28492532|PMID:9737998 9065969 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:0050865 tongue squamous cell carcinoma ISO RGD:1606655 D RGD:9068941 20200609 RGD mRNA:decreased expression:tongue: PMID:19787213|REF_RGD_ID:14398487 9065969 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:1474 aggressive periodontitis ISO RGD:1606655 D RGD:9068941 20200609 RGD mRNA:increased expression:saliva PMID:20383335|REF_RGD_ID:14398489 9065969 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:1540 parathyroid carcinoma ISO RGD:1606655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9065969 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:3388 periodontal disease ISO RGD:1606655 D RGD:9068941 20200609 RGD mRNA:increased expressin:gingiva PMID:25887438|REF_RGD_ID:14398485 9065969 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:3393 coronary artery disease ISO RGD:1606655 D RGD:9068941 20200609 RGD DNA:SNP: :rs12732361(human), associated with male. PMID:27461004|REF_RGD_ID:14398490 9065969 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:3526 cerebral infarction ISO RGD:1606655 D RGD:9068941 20200609 RGD associated with diabetes mellitus;mRNA:protein:increased expression:blood mononuclear cell: PMID:26717922|REF_RGD_ID:14398486 9065969 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:5844 myocardial infarction susceptibility ISO RGD:1606655 D RGD:9068941 20200609 RGD DNA:SNPs:3' end: PMID:18430236|REF_RGD_ID:14398488 9065969 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:630 genetic disease ISO RGD:1606655 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065969 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:8577 ulcerative colitis ISO RGD:1606655 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:intestine PMID:25171508|REF_RGD_ID:14398484 9065969 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:9001004 Chronic Periodontitis susceptibility ISO RGD:1606655 D RGD:9068941 20200609 RGD DNA:SNP: :rs1935881(human) PMID:25887438|REF_RGD_ID:14398485 9065969 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:9003969 Peri-Implantitis susceptibility ISO RGD:1606655 D RGD:9068941 20200609 RGD DNA:SNP: :rs1935881(human) PMID:25887438|REF_RGD_ID:14398485 9065969 Brinp3 BMP/retinoic acid inducible neural specific 3 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:1606655 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9065993 Mapre3 microtubule associated protein RP/EB family member 3 gene DOID:0112339 Tatton-Brown-Rahman syndrome ISO RGD:1343455 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome PMID:28492532 9065993 Mapre3 microtubule associated protein RP/EB family member 3 gene DOID:11612 polycystic ovary syndrome ISO RGD:1343455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9065993 Mapre3 microtubule associated protein RP/EB family member 3 gene DOID:630 genetic disease ISO RGD:1343455 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9065993 Mapre3 microtubule associated protein RP/EB family member 3 gene DOID:9003281 Spontaneous Abortions ISO RGD:1343455 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18539642 9066009 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:0050990 episodic ataxia type 2 ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 9066009 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:0080272 nephrotic syndrome type 16 ISO RGD:1352192 D RGD:7240710 20190315 OMIM 9066009 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:0080272 nephrotic syndrome type 16 ISO RGD:1352192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 16 PMID:25741868|PMID:25961457|PMID:28492532 9066009 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B PMID:28492532 9066009 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:0111254 glutaric acidemia I ISO RGD:1352192 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 9066009 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:3413 alpha-mannosidosis ISO RGD:1352192 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:28492532 9066009 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:630 genetic disease ISO RGD:1352192 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9066009 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:9005974 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ISO RGD:1352192 D RGD:7240710 20180130 OMIM 9066009 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:9005974 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR ISO RGD:1352192 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair PMID:24671081|PMID:25741868|PMID:28492532 9066009 Kank2 KN motif and ankyrin repeat domains 2 gene DOID:9775 diastolic heart failure ISO RGD:1352192 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29556499 9066028 Zpr1 ZPR1 zinc finger gene DOID:1059 intellectual disability ISO RGD:1323503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9066028 Zpr1 ZPR1 zinc finger gene DOID:630 genetic disease ISO RGD:1323503 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066028 Zpr1 ZPR1 zinc finger gene DOID:9004084 Chromosome 11, Partial Trisomy 11q ISO RGD:1323503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Distal trisomy 11q PMID:25741868 9066028 Zpr1 ZPR1 zinc finger gene DOID:9005701 GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES ISO RGD:1323503 D RGD:7240710 20210623 OMIM 9066028 Zpr1 ZPR1 zinc finger gene DOID:9005701 GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES ISO RGD:1323503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies PMID:29851065 9066028 Zpr1 ZPR1 zinc finger gene DOID:9007661 Dwarfism ISO RGD:1323503 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:32581362 9066053 Dnm1 dynamin 1 gene DOID:0050562 West syndrome ISO RGD:733748 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: West syndrome PMID:25741868 9066053 Dnm1 dynamin 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 9066053 Dnm1 dynamin 1 gene DOID:0050753 cerebellar ataxia ISO RGD:733748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:25741868|PMID:28492532|PMID:28554332|PMID:34386584 9066053 Dnm1 dynamin 1 gene DOID:0060475 myoclonic-atonic epilepsy ISO RGD:1552716 D RGD:9068941 20200609 RGD PMID:27363778|REF_RGD_ID:11557016 9066053 Dnm1 dynamin 1 gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:733748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935 9066053 Dnm1 dynamin 1 gene DOID:0070376 developmental and epileptic encephalopathy 31B ISO RGD:733748 D RGD:7240710 20230531 OMIM 9066053 Dnm1 dynamin 1 gene DOID:0070376 developmental and epileptic encephalopathy 31B ISO RGD:733748 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 31B PMID:34172529|PMID:36553519 9066053 Dnm1 dynamin 1 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:733748 D RGD:7240710 20180130 OMIM 9066053 Dnm1 dynamin 1 gene DOID:0080437 developmental and epileptic encephalopathy 31A ISO RGD:733748 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:10608808|PMID:11031245|PMID:11553700|PMID:17576681|PMID:18469812|PMID:19084268|PMID:20428113|PMID:20887364|PMID:22722545|PMID:23781021|PMID:23977156|PMID:25262651|PMID:25533962|PMID:25741868|PMID:25741869|PMID:26384463|PMID:26467025|PMID:26514728|PMID:26611353|PMID:26865513|PMID:27066543|PMID:27806796|PMID:28135719|PMID:28492532|PMID:28554332|PMID:28667181|PMID:29264391|PMID:29314763|PMID:29397573|PMID:29427836|PMID:29668686|PMID:30097719|PMID:30455886|PMID:31920647|PMID:32909139|PMID:33004838|PMID:34172529|PMID:34386584|PMID:36413998|PMID:8335685|PMID:9536098 9066053 Dnm1 dynamin 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:733748 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868|PMID:30097719|PMID:32909139|PMID:36413998 9066053 Dnm1 dynamin 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733748 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935 9066053 Dnm1 dynamin 1 gene DOID:10652 Alzheimer's disease ISO RGD:1552716 D RGD:9068941 20200609 RGD denntate gyrus, hippocampus, entorhinal cortex PMID:20847448|REF_RGD_ID:13506238 9066053 Dnm1 dynamin 1 gene DOID:10652 Alzheimer's disease ISO RGD:71096 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus, temporal cortex PMID:20847448|REF_RGD_ID:13506238 9066053 Dnm1 dynamin 1 gene DOID:10652 Alzheimer's disease ISO RGD:733748 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus,entorhinal cortex: PMID:20847448|REF_RGD_ID:13506238 9066053 Dnm1 dynamin 1 gene DOID:1826 epilepsy ISO RGD:733748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 9066053 Dnm1 dynamin 1 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1552716 D RGD:9068941 20220825 MouseDO OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685 9066053 Dnm1 dynamin 1 gene DOID:630 genetic disease ISO RGD:733748 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10608808|PMID:11031245|PMID:11553700|PMID:17576681|PMID:17636067|PMID:19084268|PMID:20428113|PMID:21927000|PMID:21962493|PMID:23584531|PMID:23781021|PMID:23977156|PMID:25262651|PMID:25312384|PMID:25533962|PMID:25741868|PMID:26302298|PMID:26467025|PMID:26611353|PMID:28135719|PMID:28492532|PMID:28667181|PMID:29314763|PMID:29427836|PMID:29668686|PMID:30455886|PMID:8335685|PMID:9536098 9066053 Dnm1 dynamin 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29942082 9066053 Dnm1 dynamin 1 gene DOID:9006855 Dog Diseases ISO RGD:733748 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18806795 9066053 Dnm1 dynamin 1 gene DOID:9006878 Exercise Intolerance ISO RGD:12058818 D RGD:9068941 20230824 OMIA Exercise-induced collapse PMID:18806795|PMID:18981194|PMID:19122058|PMID:21782486|PMID:21866517|PMID:22104507|PMID:23387942|PMID:23445289|PMID:24069350|PMID:27487345|PMID:27685362|PMID:30650096|PMID:34946876|PMID:37582787|PMID:9918153 9066053 Dnm1 dynamin 1 gene DOID:9008582 Developmental Disease ISO RGD:733748 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9066078 Bod1 biorientation of chromosomes in cell division 1 gene DOID:1059 intellectual disability ISO RGD:1348370 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9066078 Bod1 biorientation of chromosomes in cell division 1 gene DOID:630 genetic disease ISO RGD:1348370 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066085 Ssuh2 ssu-2 homolog gene DOID:0050700 cardiomyopathy ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17897828|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26467025|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532 9066085 Ssuh2 ssu-2 homolog gene DOID:0060255 rippling muscle disease 2 ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rippling muscle disease 2 PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 9066085 Ssuh2 ssu-2 homolog gene DOID:0110307 hypertrophic cardiomyopathy 1 ISO RGD:1603044 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 9066085 Ssuh2 ssu-2 homolog gene DOID:0110650 long QT syndrome 9 ISO RGD:1603044 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 9 PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 9066085 Ssuh2 ssu-2 homolog gene DOID:0111191 distal myopathy Tateyama type ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Distal myopathy, Tateyama type PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 9066085 Ssuh2 ssu-2 homolog gene DOID:0111338 isolated elevated serum creatine phosphokinase levels ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Elevated serum creatine phosphokinase PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 9066085 Ssuh2 ssu-2 homolog gene DOID:2843 long QT syndrome ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12082049|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14672715|PMID:15314133|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17897828|PMID:18487559|PMID:18583131|PMID:18606002|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26185955|PMID:26467025|PMID:27061274|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536098 9066085 Ssuh2 ssu-2 homolog gene DOID:2843 long QT syndrome ISO RGD:1603044 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801 9066085 Ssuh2 ssu-2 homolog gene DOID:630 genetic disease ISO RGD:1603044 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066085 Ssuh2 ssu-2 homolog gene DOID:701 dentin dysplasia ISO RGD:1557646 D RGD:9068941 20220825 MouseDO OMIM:125400 | OMIM:125420 9066085 Ssuh2 ssu-2 homolog gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9066085 Ssuh2 ssu-2 homolog gene DOID:9009051 Atrioventricular Septal Defect 2 ISO RGD:1603044 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 PMID:28492532 9066107 Ugt8 UDP glycosyltransferase 8 gene DOID:630 genetic disease ISO RGD:1343181 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066139 Ranbp6 RAN binding protein 6 gene DOID:0060732 chromosome 9p deletion syndrome ISO RGD:1313031 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 9p deletion syndrome PMID:25741868 9066139 Ranbp6 RAN binding protein 6 gene DOID:630 genetic disease ISO RGD:1313031 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066150 Mrpl15 mitochondrial ribosomal protein L15 gene DOID:0080600 COVID-19 ISO RGD:1312447 D RGD:9068941 20200613 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9066150 Mrpl15 mitochondrial ribosomal protein L15 gene DOID:630 genetic disease ISO RGD:1312447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066159 Dclre1c DNA cross-link repair 1C gene DOID:0060010 Omenn syndrome ISO RGD:1348428 D RGD:7240710 20180130 OMIM 9066159 Dclre1c DNA cross-link repair 1C gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1348428 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9066159 Dclre1c DNA cross-link repair 1C gene DOID:0080915 histiocytic sarcoma ISO RGD:1348428 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:11336668|PMID:12055248|PMID:12569164|PMID:12727634|PMID:15071507|PMID:15731174|PMID:15770702|PMID:16199547|PMID:17576681|PMID:18223550|PMID:19953608|PMID:20674517|PMID:21147755|PMID:21664875|PMID:22527898|PMID:24033266|PMID:24144642|PMID:25741868|PMID:25762520|PMID:25917813|PMID:25981738|PMID:26122175|PMID:26123418|PMID:26476407|PMID:26822949|PMID:28492532|PMID:29167666|PMID:32888943|PMID:34426522|PMID:36546626|PMID:9536098 9066159 Dclre1c DNA cross-link repair 1C gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1348428 D RGD:7240710 20180130 OMIM 9066159 Dclre1c DNA cross-link repair 1C gene DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation ISO RGD:1348428 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, partial PMID:11336668|PMID:12055248|PMID:12569164|PMID:12592555|PMID:12727634|PMID:14744996|PMID:15071507|PMID:15242402|PMID:15731174|PMID:15770702|PMID:16199547|PMID:17169382|PMID:17576681|PMID:18034425|PMID:18223550|PMID:19763152|PMID:19912631|PMID:19953608|PMID:19967552|PMID:20307669|PMID:20674517|PMID:21147755|PMID:21390052|PMID:21664875|PMID:22406018|PMID:22527898|PMID:23701501|PMID:24033266|PMID:24144642|PMID:24230999|PMID:25640679|PMID:25741868|PMID:25762520|PMID:25917813|PMID:25981738|PMID:26122175|PMID:26123418|PMID:26476407|PMID:26822949|PMID:27577878|PMID:27611239|PMID:28492532|PMID:28747913|PMID:29167666|PMID:32888943|PMID:34220820|PMID:34426522|PMID:36546626|PMID:9536098 9066159 Dclre1c DNA cross-link repair 1C gene DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ISO RGD:14033838 D RGD:9068941 20221006 OMIA Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation PMID:17998435|PMID:22903400|PMID:23514746|PMID:25454085|PMID:26320255|PMID:27269786|PMID:27988511|PMID:28747915|PMID:29152615|PMID:30560086|PMID:30723704|PMID:30843296|PMID:32117254|PMID:32296428|PMID:34004455 9066159 Dclre1c DNA cross-link repair 1C gene DOID:12177 common variable immunodeficiency ISO RGD:1348428 D RGD:9068941 20200609 RGD DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) PMID:26476407|REF_RGD_ID:11251730 9066159 Dclre1c DNA cross-link repair 1C gene DOID:627 severe combined immunodeficiency ISO RGD:1348428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:20674517|PMID:22527898|PMID:24033266|PMID:25741868|PMID:25917813|PMID:28492532|PMID:29167666 9066159 Dclre1c DNA cross-link repair 1C gene DOID:627 severe combined immunodeficiency susceptibility ISO RGD:1348428 D RGD:9068941 20200609 RGD DNA:deletion:exon PMID:11336668|REF_RGD_ID:1601049 9066159 Dclre1c DNA cross-link repair 1C gene DOID:630 genetic disease ISO RGD:1348428 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9066185 Dlk2 delta like non-canonical Notch ligand 2 gene DOID:0050444 infantile Refsum disease ISO RGD:1319320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9066185 Dlk2 delta like non-canonical Notch ligand 2 gene DOID:630 genetic disease ISO RGD:1319320 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066185 Dlk2 delta like non-canonical Notch ligand 2 gene DOID:905 Zellweger syndrome ISO RGD:1319320 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:0050073 invasive aspergillosis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:17298426|REF_RGD_ID:5135501 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1350447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:0080158 herpes simplex virus keratitis ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:18798077|REF_RGD_ID:8551819 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:0081267 graft-versus-host disease ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:19218194|REF_RGD_ID:5135435 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:1205 allergic disease ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:1273 respiratory syncytial virus infectious disease ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:18624292|REF_RGD_ID:5135483 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:12849 autistic disorder ISO RGD:1350447 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:12930 dilated cardiomyopathy ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:15322218|REF_RGD_ID:1598502 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:13406 pulmonary sarcoidosis ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, T cell PMID:9834133|REF_RGD_ID:5135492 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:14004 thoracic aortic aneurysm severity ISO RGD:1350447 D RGD:9068941 20200609 RGD mRNA:increased expression:aorta PMID:16014397|REF_RGD_ID:5135442 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:1485 cystic fibrosis ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:1532 pleural disease ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21357438 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:1591 renovascular hypertension ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:17062848|REF_RGD_ID:2311383 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2773 contact dermatitis ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25724174 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2799 bronchiolitis obliterans ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:12097412|PMID:16709871|REF_RGD_ID:5135441|REF_RGD_ID:5135451 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:decreased expression:respiratory system fluid/secretion, T cell PMID:17641057|REF_RGD_ID:5135484 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:18094012|REF_RGD_ID:4892088 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma severity ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:16548899|REF_RGD_ID:5143932 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2841 asthma susceptibility ISO RGD:1350447 D RGD:9068941 20200609 RGD DNA:SNP:intron:IVS1+234G>A (human) PMID:16043121|REF_RGD_ID:5143934 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2921 glomerulonephritis ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:2945 severe acute respiratory syndrome ISO RGD:733057 D RGD:9068941 20200619 RGD mRNA:altered expression:lung (mouse) PMID:15356152|REF_RGD_ID:30309221 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:3070 high grade glioma ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:16434036|REF_RGD_ID:5135509 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:3083 chronic obstructive pulmonary disease ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:increased expression:respiratory system fluid/secretion, neutrophil PMID:19017998|REF_RGD_ID:4145632 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:3083 chronic obstructive pulmonary disease disease_progression ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:19218194|REF_RGD_ID:5135435 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:326 ischemia ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:3310 atopic dermatitis ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18249437 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:3525 middle cerebral artery infarction ISO RGD:621528 D RGD:9068941 20200609 RGD mRNA:increased expression:cerebral cortex PMID:10825390|REF_RGD_ID:632989 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:3770 pulmonary fibrosis ISO RGD:733057 D RGD:9068941 20200609 RGD associated with Lung Injury PMID:15254596|REF_RGD_ID:5135446 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:417 autoimmune disease ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:418 systemic scleroderma ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:decreased expression:skin, endothelial cell PMID:21303517|REF_RGD_ID:5135279 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:4247 coronary restenosis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:14578618|REF_RGD_ID:1598500 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:437 myasthenia gravis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:15843529|REF_RGD_ID:1598501 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21625544 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:15265940|REF_RGD_ID:5135445 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:552 pneumonia ISO RGD:733057 D RGD:9068941 20200609 RGD associated with Lupus Erythematosus, Systemic;mRNA:increased expression:lung PMID:14979941|REF_RGD_ID:5135491 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:630 genetic disease ISO RGD:1350447 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:7148 rheumatoid arthritis ISO RGD:1350447 D RGD:9068941 20200609 RGD protein:increased expression:synovial fluid, neutrophil PMID:19017998|REF_RGD_ID:4145632 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:820 myocarditis ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:15322218|REF_RGD_ID:1598502 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:841 extrinsic allergic alveolitis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:19842835|REF_RGD_ID:4145620 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:841 extrinsic allergic alveolitis ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:14991597|REF_RGD_ID:5135448 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:8577 ulcerative colitis ISO RGD:1350447 D RGD:9068941 20200609 RGD mRNA:increased expression:peripheral blood immature plasma cells PMID:21087446|REF_RGD_ID:6480657 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:874 bacterial pneumonia ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:15618188|REF_RGD_ID:5135459 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9000310 Lung Injury ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:17086735|REF_RGD_ID:5135486 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9000965 Neoplasm Metastasis ISO RGD:733057 D RGD:9068941 20200609 RGD associated with Mammary Neoplasms, Experimental PMID:16885372|REF_RGD_ID:5135487 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9002605 Delayed Hypersensitivity ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:15884054|REF_RGD_ID:5143937 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:21038468|REF_RGD_ID:5135506 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:621528 D RGD:9068941 20200609 RGD mRNA:increased expression:brain PMID:17549754|REF_RGD_ID:2311381 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9004009 Reperfusion Injury ISO RGD:621528 D RGD:9068941 20200609 RGD mRNA:increased expression:liver PMID:18589091|REF_RGD_ID:2311376 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9005372 Inflammation ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12517959 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9006928 Viral Bronchiolitis ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:20561238|REF_RGD_ID:5135493 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9007096 Stroke ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12374626 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9008286 Experimental Autoimmune Myasthenia Gravis ISO RGD:621528 D RGD:9068941 20200609 RGD PMID:15843529|PMID:19232748|REF_RGD_ID:1598501|REF_RGD_ID:2311364 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9008680 Respiratory Tract Infections ISO RGD:733057 D RGD:9068941 20200609 RGD PMID:19039768|REF_RGD_ID:4892119 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:9675 pulmonary emphysema ISO RGD:1350447 D RGD:9068941 20200609 RGD PMID:15526056|REF_RGD_ID:4892104 9066207 Cxcr3 C-X-C motif chemokine receptor 3 gene DOID:986 alopecia areata ISO RGD:1350447 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22358057 9066226 Armc2 armadillo repeat containing 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1350350 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:23623387|PMID:28492532 9066226 Armc2 armadillo repeat containing 2 gene DOID:0111919 spermatogenic failure 38 ISO RGD:1350350 D RGD:7240710 20190619 OMIM 9066226 Armc2 armadillo repeat containing 2 gene DOID:0111919 spermatogenic failure 38 ISO RGD:1350350 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spermatogenic failure 38 PMID:30686508 9066226 Armc2 armadillo repeat containing 2 gene DOID:12336 male infertility ISO RGD:1622123 D RGD:9068941 20220825 MouseDO 9066226 Armc2 armadillo repeat containing 2 gene DOID:630 genetic disease ISO RGD:1350350 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066251 Tcn1 transcobalamin 1 gene DOID:0080600 COVID-19 ISO RGD:1349641 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9066251 Tcn1 transcobalamin 1 gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1349641 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9066251 Tcn1 transcobalamin 1 gene DOID:1059 intellectual disability ISO RGD:1349641 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9066251 Tcn1 transcobalamin 1 gene DOID:13382 megaloblastic anemia ISO RGD:1349641 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:4627864 9066251 Tcn1 transcobalamin 1 gene DOID:630 genetic disease ISO RGD:1349641 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9066251 Tcn1 transcobalamin 1 gene DOID:9003283 Transcobalamin I Deficiency ISO RGD:1349641 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Transcobalamin I deficiency PMID:17576681|PMID:19686235|PMID:25640679|PMID:25741868|PMID:28492532|PMID:9536098 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:0070023 autosomal dominant dyskeratosis congenita 6 ISO RGD:68497 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 PMID:28492532 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:0080916 erythroleukemia ISO RGD:68497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:0111259 postaxial acrofacial dysostosis ISO RGD:68497 D RGD:7240710 20180130 OMIM 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:0111259 postaxial acrofacial dysostosis ISO RGD:68497 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Miller syndrome PMID:19915526|PMID:20220176|PMID:21346561|PMID:22692683|PMID:22967083|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33262786 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:10923 sickle cell anemia ISO RGD:68497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:12241 beta thalassemia ISO RGD:68497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:12971 hereditary spherocytosis ISO RGD:68497 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:38827 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:630 genetic disease ISO RGD:68497 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9001586 Experimental Liver Neoplasms ISO RGD:68352 D RGD:9068941 20200609 RGD protein:increased activity:liver (rat) PMID:6331524|REF_RGD_ID:5132618 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9002457 Experimental Arthritis ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:15182735|REF_RGD_ID:2316231 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9002850 Immediate Hypersensitivity ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:9918599|REF_RGD_ID:2316235 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9004283 Transplant Rejection treatment ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:8443191|REF_RGD_ID:11040447 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:1723607|REF_RGD_ID:11040445 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:68352 D RGD:9068941 20200609 RGD protein:decreased activity:mammary gland (rat) PMID:1476792|REF_RGD_ID:5132591 9066269 Dhodh dihydroorotate dehydrogenase (quinone) gene DOID:9006647 Experimental Autoimmune Neuritis treatment ISO RGD:68352 D RGD:9068941 20200609 RGD PMID:11522581|REF_RGD_ID:11040446 9066283 Rnf213 ring finger protein 213 gene DOID:0111395 mucopolysaccharidosis type IIIA ISO RGD:1351712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:28492532 9066283 Rnf213 ring finger protein 213 gene DOID:13099 Moyamoya disease ISO RGD:1351712 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Moyamoya disease PMID:25741868|PMID:33568546 9066283 Rnf213 ring finger protein 213 gene DOID:13620 patent foramen ovale ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Patent foramen ovale PMID:25741868 9066283 Rnf213 ring finger protein 213 gene DOID:1826 epilepsy ISO RGD:1351712 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Seizure 9066283 Rnf213 ring finger protein 213 gene DOID:5889 anaplastic ependymoma ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Anaplastic ependymoma PMID:26822237 9066283 Rnf213 ring finger protein 213 gene DOID:630 genetic disease ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066283 Rnf213 ring finger protein 213 gene DOID:9007096 Stroke ISO RGD:1351712 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Stroke PMID:25278557|PMID:25741868|PMID:28492532 9066283 Rnf213 ring finger protein 213 gene DOID:9007536 Moyamoya Disease 2 ISO RGD:1351712 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Moyamoya disease 2 | ClinVar Annotator: match by term: RNF213-related condition PMID:21048783|PMID:21799892|PMID:22377813|PMID:22931863|PMID:23110205|PMID:25278557|PMID:25741868|PMID:25956231|PMID:26126547|PMID:26530418|PMID:27515544|PMID:27736983|PMID:27745834|PMID:28492532|PMID:29483232|PMID:30671466|PMID:31474762 9066283 Rnf213 ring finger protein 213 gene DOID:9007536 Moyamoya Disease 2 susceptibility ISO RGD:1351712 D RGD:7240710 20190502 OMIM 9066283 Rnf213 ring finger protein 213 gene DOID:9007908 Aortic Coarctation ISO RGD:1351712 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Midaortic syndrome PMID:29483232 9066283 Rnf213 ring finger protein 213 gene DOID:9212 pityriasis rubra pilaris ISO RGD:1351712 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Pityriasis rubra pilaris PMID:28492532 9066356 Fmo4 flavin containing dimethylaniline monoxygenase 4 gene DOID:0060041 autism spectrum disorder ISO RGD:731768 D RGD:9068941 20230209 CTD CTD Direct Evidence: marker/mechanism PMID:35663546 9066356 Fmo4 flavin containing dimethylaniline monoxygenase 4 gene DOID:1540 parathyroid carcinoma ISO RGD:731768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9066356 Fmo4 flavin containing dimethylaniline monoxygenase 4 gene DOID:630 genetic disease ISO RGD:731768 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066356 Fmo4 flavin containing dimethylaniline monoxygenase 4 gene DOID:9007734 1q24 Deletion Syndrome ISO RGD:731768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome PMID:25741868 9066356 Fmo4 flavin containing dimethylaniline monoxygenase 4 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:731768 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9066357 Mipol1 mirror-image polydactyly 1 gene DOID:1148 polydactyly ISO RGD:1344580 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11954550 9066357 Mipol1 mirror-image polydactyly 1 gene DOID:12859 choreatic disease ISO RGD:1344580 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Benign hereditary chorea PMID:11971878 9066357 Mipol1 mirror-image polydactyly 1 gene DOID:630 genetic disease ISO RGD:1344580 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9066357 Mipol1 mirror-image polydactyly 1 gene DOID:9004758 Brain-Lung-Thyroid Syndrome ISO RGD:1344580 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brain-lung-thyroid syndrome PMID:25741868 9066394 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:0050776 non-syndromic X-linked intellectual disability ISO RGD:68629 D RGD:9068941 20220825 MouseDO OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 9066394 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9066394 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:0112041 non-syndromic X-linked intellectual disability 90 ISO RGD:68628 D RGD:7240710 20180130 OMIM 9066394 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:0112041 non-syndromic X-linked intellectual disability 90 ISO RGD:68628 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: DLG3-Related Disorder | ClinVar Annotator: match by term: DLG3-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90 PMID:15185169|PMID:23020937|PMID:24721225|PMID:25741868|PMID:27222290|PMID:28554332 9066394 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:1059 intellectual disability ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:31690835 9066394 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:12849 autistic disorder ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9066394 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:1826 epilepsy ISO RGD:68628 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure 9066394 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:630 genetic disease ISO RGD:68628 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532|PMID:28554332 9066394 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:68628 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15185169 9066394 Dlg3 discs large MAGUK scaffold protein 3 gene DOID:9005867 X-Linked Intellectual Developmental Disorders ISO RGD:68628 D RGD:9068941 20200609 RGD DNA:mutations:multiple (human) PMID:15185169|REF_RGD_ID:1300392 9066430 Zbtb47 zinc finger and BTB domain containing 47 gene DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 ISO RGD:1343623 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 PMID:28492532 9066430 Zbtb47 zinc finger and BTB domain containing 47 gene DOID:1826 epilepsy ISO RGD:1343623 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:37743782 9066430 Zbtb47 zinc finger and BTB domain containing 47 gene DOID:630 genetic disease ISO RGD:1343623 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066441 Calhm6 calcium homeostasis modulator family member 6 gene DOID:0060163 body dysmorphic disorder ISO RGD:1605771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysmorphic features PMID:24824130 9066441 Calhm6 calcium homeostasis modulator family member 6 gene DOID:0080553 congenital disorder of glycosylation Iaa ISO RGD:1605771 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA PMID:28492532|PMID:29100083|PMID:31273557 9066441 Calhm6 calcium homeostasis modulator family member 6 gene DOID:1059 intellectual disability ISO RGD:1605771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:24824130 9066441 Calhm6 calcium homeostasis modulator family member 6 gene DOID:10907 microcephaly ISO RGD:1605771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephaly PMID:24824130 9066441 Calhm6 calcium homeostasis modulator family member 6 gene DOID:1826 epilepsy ISO RGD:1605771 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9066441 Calhm6 calcium homeostasis modulator family member 6 gene DOID:630 genetic disease ISO RGD:1605771 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066441 Calhm6 calcium homeostasis modulator family member 6 gene DOID:9000495 Tremor ISO RGD:1605771 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tremor PMID:24824130 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:20437590|PMID:22131395|PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:28166811|PMID:28488083|PMID:28492532|PMID:30351409|PMID:30986657 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:733930 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:17576681|PMID:20437590|PMID:22131395|PMID:24747641|PMID:25640679|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:28488083|PMID:28492532|PMID:29056246|PMID:29933521|PMID:30351409|PMID:30986657|PMID:34055682|PMID:35845605|PMID:9536098 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0080429 developmental and epileptic encephalopathy 24 ISO RGD:733930 D RGD:7240710 20180130 OMIM 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0080429 developmental and epileptic encephalopathy 24 ISO RGD:733930 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 24 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24 PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:28488083|PMID:28492532|PMID:30351409|PMID:33822003 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0080468 developmental and epileptic encephalopathy 1 ISO RGD:733930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24747641 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0090131 complex cortical dysplasia with other brain malformations ISO RGD:620688 D RGD:9068941 20200609 RGD protein:decreased expression:neocortex: PMID:20618401|REF_RGD_ID:9686432 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0111296 generalized epilepsy with febrile seizures plus 10 ISO RGD:733930 D RGD:7240710 20190710 OMIM 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0111296 generalized epilepsy with febrile seizures plus 10 ISO RGD:733930 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 10 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 10 PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:28488083|PMID:28492532|PMID:29936235|PMID:30351409 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:733930 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17576681|PMID:20437590|PMID:22131395|PMID:24747641|PMID:25640679|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:28488083|PMID:28492532|PMID:29056246|PMID:29933521|PMID:30351409|PMID:30986657|PMID:34055682|PMID:35845605|PMID:9536098 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:1059 intellectual disability ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:11832 visual epilepsy ISO RGD:620688 D RGD:9068941 20220728 RGD PMID:17988239|REF_RGD_ID:9686135 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:13884 sick sinus syndrome ISO RGD:733931 D RGD:9068941 20220825 MouseDO OMIM:163800 | OMIM:608567 | OMIM:614090 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:1824 status epilepticus ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:21976514|REF_RGD_ID:9686365 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:1825 childhood absence epilepsy ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:15182313|REF_RGD_ID:9686420 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:1826 epilepsy ISO RGD:733930 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Seizure PMID:28492532 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:2030 anxiety disorder ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:22884333|REF_RGD_ID:9686419 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:3324 mood disorder ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:22884333|REF_RGD_ID:9686419 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:620688 D RGD:9068941 20200609 RGD mRNA:increased expression:hippocampus: PMID:12890777|REF_RGD_ID:9686145 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:620688 D RGD:9068941 20200609 RGD protein:decreased expression:hippocampus: PMID:21905079|REF_RGD_ID:9686146 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:733930 D RGD:9068941 20200609 RGD PMID:12890777|REF_RGD_ID:9686145 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:630 genetic disease ISO RGD:733930 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20437590|PMID:22131395|PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:27541642|PMID:27864847|PMID:28488083|PMID:28492532 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9000438 Subarachnoid Hemorrhage ISO RGD:620688 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:22378889|REF_RGD_ID:9686397 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9000495 Tremor ISO RGD:620688 D RGD:9068941 20200609 RGD DNA:missense mutation:cds:c.1061C>T, p.A354V(rat) PMID:25970616|REF_RGD_ID:11060746 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9000930 Dental Pulp Exposure ISO RGD:620688 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:17645513|REF_RGD_ID:9686147 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9000998 Brain Injuries ISO RGD:620688 D RGD:9068941 20200609 RGD mRNA,protein:decreased expression:hippocampus: PMID:11726545|REF_RGD_ID:9686434 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9001793 Generalized Epilepsy ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:25741868|PMID:30351409 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:620688 D RGD:9068941 20200609 RGD mRNA:decreased expression:hippocampus,cortex: PMID:19892002|REF_RGD_ID:9686395 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:733930 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9004866 Ataxia ISO RGD:733930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747469 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:620688 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19815055|REF_RGD_ID:9693680 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9006205 Animal Disease Models ISO RGD:733930 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19747469 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9007956 Febrile Seizures ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:15837575|REF_RGD_ID:9686385 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9007970 Chronic Cerebral Hypoperfusion ISO RGD:620688 D RGD:9068941 20200609 RGD PMID:24838625|REF_RGD_ID:9686415 9066446 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 gene DOID:9471 meningitis ISO RGD:620688 D RGD:9068941 20200609 RGD protein:increased expression:neuron: PMID:19409968|REF_RGD_ID:2316615 9066457 Bhlhe41 basic helix-loop-helix family member e41 gene DOID:0050866 oral squamous cell carcinoma treatment ISO RGD:731061 D RGD:9068941 20220317 RGD Human cells in mouse model PMID:27602964|REF_RGD_ID:151665310 9066457 Bhlhe41 basic helix-loop-helix family member e41 gene DOID:3910 lung adenocarcinoma ISO RGD:731061 D RGD:9068941 20220317 RGD mRNA:decreased expression:lung (human) PMID:18223678|REF_RGD_ID:151665316 9066457 Bhlhe41 basic helix-loop-helix family member e41 gene DOID:5041 esophageal cancer ISO RGD:731061 D RGD:9068941 20220317 RGD protein:increased expression:esophagus(human) PMID:29890466|REF_RGD_ID:151665308 9066457 Bhlhe41 basic helix-loop-helix family member e41 gene DOID:535 sleep disorder ISO RGD:731061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9066457 Bhlhe41 basic helix-loop-helix family member e41 gene DOID:630 genetic disease ISO RGD:731061 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066457 Bhlhe41 basic helix-loop-helix family member e41 gene DOID:9005172 Lung Neoplasms ISO RGD:731061 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27935865 9066457 Bhlhe41 basic helix-loop-helix family member e41 gene DOID:9007173 Familial Natural Short Sleep 1 ISO RGD:731061 D RGD:7240710 20191225 OMIM 9066457 Bhlhe41 basic helix-loop-helix family member e41 gene DOID:9007173 Familial Natural Short Sleep 1 ISO RGD:731061 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short sleep, familial natural, 1 PMID:19679812|PMID:25083013 9066467 Rerg RAS like estrogen regulated growth inhibitor gene DOID:0070036 autosomal dominant intellectual developmental disorder 6 ISO RGD:1349252 D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 PMID:28492532 9066467 Rerg RAS like estrogen regulated growth inhibitor gene DOID:1612 breast cancer severity ISO RGD:1349252 D RGD:9068941 20200609 RGD mRNA:increased expression:breast (human) PMID:11533059|REF_RGD_ID:1304529 9066467 Rerg RAS like estrogen regulated growth inhibitor gene DOID:630 genetic disease ISO RGD:1349252 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066476 Acbd7 acyl-CoA binding domain containing 7 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1350250 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9066476 Acbd7 acyl-CoA binding domain containing 7 gene DOID:630 genetic disease ISO RGD:1350250 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066488 Sec61a2 SEC61 translocon subunit alpha 2 gene DOID:0050770 polycystic liver disease ISO RGD:1314281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver 9066488 Sec61a2 SEC61 translocon subunit alpha 2 gene DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome ISO RGD:1314281 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome PMID:25741868 9066488 Sec61a2 SEC61 translocon subunit alpha 2 gene DOID:630 genetic disease ISO RGD:1314281 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066488 Sec61a2 SEC61 translocon subunit alpha 2 gene DOID:9001771 Polycystic Liver Disease 1 ISO RGD:1314281 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 9066505 Trim27 tripartite motif containing 27 gene DOID:11372 megacolon ISO RGD:1320820 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9066505 Trim27 tripartite motif containing 27 gene DOID:630 genetic disease ISO RGD:1320820 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066516 Chmp1a charged multivesicular body protein 1A gene DOID:0060264 pontocerebellar hypoplasia ISO RGD:1346526 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia 9066516 Chmp1a charged multivesicular body protein 1A gene DOID:0060265 pontocerebellar hypoplasia type 1A ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A PMID:25741868 9066516 Chmp1a charged multivesicular body protein 1A gene DOID:0060266 pontocerebellar hypoplasia type 1B ISO RGD:1346526 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia 9066516 Chmp1a charged multivesicular body protein 1A gene DOID:0060277 pontocerebellar hypoplasia type 8 ISO RGD:1346526 D RGD:7240710 20180130 OMIM 9066516 Chmp1a charged multivesicular body protein 1A gene DOID:0060277 pontocerebellar hypoplasia type 8 ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 PMID:18414213|PMID:23023333|PMID:25741868|PMID:28492532 9066516 Chmp1a charged multivesicular body protein 1A gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1346526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:28492532 9066516 Chmp1a charged multivesicular body protein 1A gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1346526 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 9066516 Chmp1a charged multivesicular body protein 1A gene DOID:0111095 Fanconi anemia complementation group A ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:23613520 9066516 Chmp1a charged multivesicular body protein 1A gene DOID:1059 intellectual disability ISO RGD:1346526 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9066516 Chmp1a charged multivesicular body protein 1A gene DOID:13636 Fanconi anemia ISO RGD:1346526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 9066516 Chmp1a charged multivesicular body protein 1A gene DOID:14780 KBG syndrome ISO RGD:1346526 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:28492532|PMID:31602316 9066516 Chmp1a charged multivesicular body protein 1A gene DOID:630 genetic disease ISO RGD:1346526 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34148545 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1602129 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:0080950 alopecia-mental retardation syndrome 4 ISO RGD:1602129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 PMID:25741868 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:0081397 Vissers-Bodmer syndrome ISO RGD:1602129 D RGD:7240710 20201223 OMIM 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:0081397 Vissers-Bodmer syndrome ISO RGD:1602129 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CNOT1-Related Disorder | ClinVar Annotator: match by term: Vissers-Bodmer syndrome PMID:25741868|PMID:28492532|PMID:32553196 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:0081398 holoprosencephaly 12 ISO RGD:1602129 D RGD:7240710 20190731 OMIM 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:0081398 holoprosencephaly 12 ISO RGD:1602129 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis PMID:25741868|PMID:28492532|PMID:28525974|PMID:31006510|PMID:31006513|PMID:32553196 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1602129 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:1059 intellectual disability ISO RGD:1602129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:1826 epilepsy ISO RGD:1602129 D RGD:8554872 20220726 ClinVar ClinVar Annotator: match by term: Seizure 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1602129 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:4621 holoprosencephaly ISO RGD:1602129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:25741868|PMID:28525974|PMID:31006510|PMID:31006513|PMID:32553196 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:630 genetic disease ISO RGD:1602129 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:32553196|PMID:9536098 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:9000895 Preterm Intraventricular Hemorrhage ISO RGD:1602129 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Preterm intraventricular hemorrhage PMID:25741868 9066531 Cnot1 CCR4-NOT transcription complex subunit 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1602129 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9066599 Ren renin gene DOID:0050477 Liddle syndrome ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12185466 9066599 Ren renin gene DOID:0050811 congenital adrenal hyperplasia ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased expression:blood serum (human) PMID:31505456|REF_RGD_ID:125097501 9066599 Ren renin gene DOID:0060001 withdrawal disorder ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28415 9066599 Ren renin gene DOID:0060180 colitis treatment ISO RGD:1332384 D RGD:9068941 20210402 RGD PMID:24858618|REF_RGD_ID:125097500 9066599 Ren renin gene DOID:0060224 atrial fibrillation ISO RGD:736366 D RGD:9068941 20200609 RGD associated with Rheumatic Heart Disease; protein:increased activity:plasma (human) PMID:21911268|REF_RGD_ID:6892701 9066599 Ren renin gene DOID:0080827 human cytomegalovirus infection ISO RGD:736366 D RGD:9068941 20210402 RGD protein:decreased expression:blood plasma (human) PMID:29752343|REF_RGD_ID:40400905 9066599 Ren renin gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:736366 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9066599 Ren renin gene DOID:1074 kidney failure ISO RGD:1332384 D RGD:9068941 20210402 RGD PMID:28533331|REF_RGD_ID:39939034 9066599 Ren renin gene DOID:10762 portal hypertension ISO RGD:736366 D RGD:9068941 20200609 RGD PMID:12854169|REF_RGD_ID:1580698 9066599 Ren renin gene DOID:10763 hypertension ISO RGD:1332384 D RGD:9068941 20200609 RGD PMID:22681982|REF_RGD_ID:6784501 9066599 Ren renin gene DOID:10763 hypertension ISO RGD:1332384 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (mouse) PMID:22493079|REF_RGD_ID:6892655 9066599 Ren renin gene DOID:10763 hypertension ISO RGD:3554 D RGD:9068941 20200609 RGD PMID:16467505|REF_RGD_ID:1580671 9066599 Ren renin gene DOID:10763 hypertension ISO RGD:736366 D RGD:9068941 20200609 RGD PMID:16138564|REF_RGD_ID:1580697 9066599 Ren renin gene DOID:10763 hypertension ISO RGD:736366 D RGD:9068941 20220512 CTD CTD Direct Evidence: marker/mechanism PMID:1071603|PMID:1149188|PMID:11501062|PMID:12414515|PMID:12600921|PMID:17537837|PMID:18679781|PMID:18847324|PMID:19770776|PMID:19934029|PMID:20429690|PMID:20811386|PMID:21393355|PMID:45830|PMID:62162|PMID:6381767|PMID:7721401|PMID:998518 9066599 Ren renin gene DOID:10763 hypertension treatment ISO RGD:3554 D RGD:9068941 20230812 RGD PMID:30127255|REF_RGD_ID:401793709 9066599 Ren renin gene DOID:10824 malignant hypertension ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2493837 9066599 Ren renin gene DOID:10825 essential hypertension ISO RGD:736366 D RGD:9068941 20210402 RGD PMID:1152295|REF_RGD_ID:125097505 9066599 Ren renin gene DOID:10881 hand, foot and mouth disease treatment ISO RGD:736366 D RGD:9068941 20210618 RGD PMID:31638922|REF_RGD_ID:127285374 9066599 Ren renin gene DOID:11476 osteoporosis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18847324 9066599 Ren renin gene DOID:1184 nephrotic syndrome ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 9066599 Ren renin gene DOID:12236 primary biliary cholangitis ISO RGD:3554 D RGD:9068941 20200609 RGD protein:increased activity:plasma (rat) PMID:22266601|REF_RGD_ID:6892690 9066599 Ren renin gene DOID:12849 autistic disorder ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9066599 Ren renin gene DOID:14115 toxic shock syndrome exacerbates ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (human) PMID:31723628|REF_RGD_ID:125097502 9066599 Ren renin gene DOID:1540 parathyroid carcinoma ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9066599 Ren renin gene DOID:1591 renovascular hypertension ISO RGD:1332384 D RGD:9068941 20200609 RGD mRNA:increased expression:renal cortex (mouse) PMID:22378822|REF_RGD_ID:6892688 9066599 Ren renin gene DOID:1591 renovascular hypertension ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (human) PMID:2240003|REF_RGD_ID:125097504 9066599 Ren renin gene DOID:1596 depressive disorder ISO RGD:736366 D RGD:9068941 20210402 RGD Associated with hypertension;protein:decreased activity:blood (human) PMID:29960014|REF_RGD_ID:125097507 9066599 Ren renin gene DOID:2355 anemia ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3524928 9066599 Ren renin gene DOID:2527 nephrosis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2046802|PMID:6358456 9066599 Ren renin gene DOID:3021 acute kidney failure exacerbates ISO RGD:736366 D RGD:9068941 20210402 RGD Associated with toxic shock syndrome;protein:increased expression:blood plasma (human) PMID:30407370|REF_RGD_ID:125097506 9066599 Ren renin gene DOID:326 ischemia ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3915608 9066599 Ren renin gene DOID:3388 periodontal disease treatment ISO RGD:1332384 D RGD:9068941 20210402 RGD Associated with Diabetes Mellitus, experimental PMID:31333451|REF_RGD_ID:125097482 9066599 Ren renin gene DOID:445 Bartter disease ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15976003|PMID:3519017|PMID:929154 9066599 Ren renin gene DOID:446 primary hyperaldosteronism ISO RGD:736366 D RGD:9068941 20210514 RGD protein:increased activity:blood plasma (human) PMID:15080782|REF_RGD_ID:126908012 9066599 Ren renin gene DOID:5082 liver cirrhosis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15613622 9066599 Ren renin gene DOID:557 kidney disease ISO RGD:736366 D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases | ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 9066599 Ren renin gene DOID:576 proteinuria ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:2046802|PMID:464098 9066599 Ren renin gene DOID:5844 myocardial infarction ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1668233 9066599 Ren renin gene DOID:5844 myocardial infarction susceptibility ISO RGD:736366 D RGD:9068941 20200609 RGD associated with Hypertension; protein:increased activity:plasma (human) PMID:1759997|REF_RGD_ID:6892687 9066599 Ren renin gene DOID:6000 congestive heart failure ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:1647690|PMID:20811386|PMID:7034517 9066599 Ren renin gene DOID:6000 congestive heart failure exacerbates ISO RGD:736366 D RGD:9068941 20210514 RGD protein:increased activity:blood plasma (human) PMID:17526990|REF_RGD_ID:126908011 9066599 Ren renin gene DOID:630 genetic disease ISO RGD:736366 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21473025|PMID:25741868|PMID:28492532 9066599 Ren renin gene DOID:687 hepatoblastoma ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hepatoblastoma 9066599 Ren renin gene DOID:8544 chronic fatigue syndrome ISO RGD:736366 D RGD:9068941 20200609 RGD associated with Postural Orthostatic Tachycardia Syndrome; protein:increased activity:plasma (human) PMID:21906029|REF_RGD_ID:6892702 9066599 Ren renin gene DOID:8893 psoriasis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:3540694 9066599 Ren renin gene DOID:9000288 Chronic Intermittent Hypoxia ISO RGD:3554 D RGD:9068941 20230817 RGD mRNA:increased expression:kidney medulla (rat) PMID:32416216|REF_RGD_ID:401793731 9066599 Ren renin gene DOID:9000445 Azotemia ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6338847 9066599 Ren renin gene DOID:9000784 Fibrosis ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12414515 9066599 Ren renin gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:3554 D RGD:9068941 20230812 RGD associated with hypertension PMID:30127255|REF_RGD_ID:401793709 9066599 Ren renin gene DOID:9001234 Prenatal Exposure Delayed Effects treatment ISO RGD:3554 D RGD:9068941 20230817 RGD associated with maternal adenine induced chronic kidney disease PMID:32604820|REF_RGD_ID:401793718 9066599 Ren renin gene DOID:9001542 Albuminuria ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12414515|PMID:18679781 9066599 Ren renin gene DOID:9001725 Retina Reperfusion Injury treatment ISO RGD:3554 D RGD:9068941 20200609 RGD PMID:24709336|REF_RGD_ID:11039406 9066599 Ren renin gene DOID:9001827 Critical Illness exacerbates ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (human) PMID:30653055|REF_RGD_ID:125097479 9066599 Ren renin gene DOID:9002165 Diabetic Nephropathies ISO RGD:3554 D RGD:9068941 20200609 RGD PMID:15489960|REF_RGD_ID:1579795 9066599 Ren renin gene DOID:9002231 Fetal Growth Retardation ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17537837 9066599 Ren renin gene DOID:9003936 Cardiomegaly ISO RGD:1332384 D RGD:9068941 20200609 RGD mRNA:increased expression:heart, kidney (mouse) PMID:15367398|REF_RGD_ID:6771378 9066599 Ren renin gene DOID:9003936 Cardiomegaly ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20429690|PMID:20811386 9066599 Ren renin gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:736366 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9066599 Ren renin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:3554 D RGD:9068941 20200609 RGD protein:decreased activity:plasma (rat) PMID:22796710|REF_RGD_ID:6771379 9066599 Ren renin gene DOID:9004616 Left Ventricular Hypertrophy ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18679781|PMID:8349331 9066599 Ren renin gene DOID:9005373 Autosomal Dominant Tubulointerstitial Kidney Disease 4 ISO RGD:736366 D RGD:7240710 20180130 OMIM 9066599 Ren renin gene DOID:9005373 Autosomal Dominant Tubulointerstitial Kidney Disease 4 ISO RGD:736366 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE | ClinVar Annotator: match by term: REN-related condition | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 PMID:16116425|PMID:19664745|PMID:21084044|PMID:21473025|PMID:22095942|PMID:25741868|PMID:28492532|PMID:32750457|PMID:33532864 9066599 Ren renin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18829990 9066599 Ren renin gene DOID:9005721 Preeclamptic Toxemia ISO RGD:736366 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (human) PMID:683663|REF_RGD_ID:125097480 9066599 Ren renin gene DOID:9005930 Endotoxemia ISO RGD:1332384 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (mouse) PMID:30027346|REF_RGD_ID:125097481 9066599 Ren renin gene DOID:9005930 Endotoxemia ISO RGD:3554 D RGD:9068941 20210402 RGD protein:increased activity:blood plasma (rat) PMID:16512638|REF_RGD_ID:125097499 9066599 Ren renin gene DOID:9006024 Hypotension ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:11171655|PMID:3536153|PMID:6251761 9066599 Ren renin gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:736366 D RGD:7240710 20180130 OMIM 9066599 Ren renin gene DOID:9006137 Renal Tubular Dysgenesis ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin PMID:16116425|PMID:17443344|PMID:21036942|PMID:22095942|PMID:25741868|PMID:28492532|PMID:32750457|PMID:33532864 9066599 Ren renin gene DOID:9006635 Hyponatremia ISO RGD:3554 D RGD:9068941 20210402 RGD protein: increased activity:blood plasma (rat) PMID:25841323|REF_RGD_ID:125097503 9066599 Ren renin gene DOID:9006810 Drug-Related Side Effects and Adverse Reactions ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:8723173 9066599 Ren renin gene DOID:9006832 Puromycin Aminonucleoside Nephrosis ISO RGD:3554 D RGD:9068941 20200609 RGD PMID:8446257|REF_RGD_ID:11039400 9066599 Ren renin gene DOID:9008217 Hemorrhage ISO RGD:736366 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:6991409 9066599 Ren renin gene DOID:9253 gastrointestinal stromal tumor ISO RGD:736366 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9066599 Ren renin gene DOID:9970 obesity ISO RGD:736366 D RGD:9068941 20200609 RGD mRNA:increased expression:abdomen, subcutaneous adipose tissue, mesenchymal stem cell (human) PMID:22648117|REF_RGD_ID:6784503 9066623 Cd6 CD6 molecule gene DOID:0110912 leukocyte adhesion deficiency 3 ISO RGD:1351600 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 9066623 Cd6 CD6 molecule gene DOID:1059 intellectual disability ISO RGD:1351600 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9066623 Cd6 CD6 molecule gene DOID:2377 multiple sclerosis ISO RGD:1351600 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19525953|PMID:24076602 9066623 Cd6 CD6 molecule gene DOID:630 genetic disease ISO RGD:1351600 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066624 Ankrd29 ankyrin repeat domain 29 gene DOID:0070113 Niemann-Pick disease type C1 ISO RGD:1317259 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 9066624 Ankrd29 ankyrin repeat domain 29 gene DOID:1059 intellectual disability ISO RGD:1317259 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Intellectual disability 9066624 Ankrd29 ankyrin repeat domain 29 gene DOID:630 genetic disease ISO RGD:1317259 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066639 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:0050553 proteasome-associated autoinflammatory syndrome 1 ISO RGD:1351609 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 PMID:28492532 9066639 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:0112342 hereditary spastic paraplegia 86 ISO RGD:1351609 D RGD:7240710 20220223 OMIM 9066639 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:0112342 hereditary spastic paraplegia 86 ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive PMID:25741868|PMID:34587489|PMID:34866177 9066639 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:11372 megacolon ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9066639 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:2476 hereditary spastic paraplegia ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia PMID:25741868 9066639 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:607 paraplegia ISO RGD:1351609 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:34587489 9066639 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:630 genetic disease ISO RGD:1351609 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066639 Abhd16a abhydrolase domain containing 16A, phospholipase gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1351609 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9066665 Syt13 synaptotagmin 13 gene DOID:1059 intellectual disability ISO RGD:735243 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability 9066665 Syt13 synaptotagmin 13 gene DOID:630 genetic disease ISO RGD:735243 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066665 Syt13 synaptotagmin 13 gene DOID:9005632 Cocaine-Related Disorders ISO RGD:735243 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18438686 9066676 Nlrc5 NLR family CARD domain containing 5 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1604572 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9066676 Nlrc5 NLR family CARD domain containing 5 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1604572 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9066676 Nlrc5 NLR family CARD domain containing 5 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1604572 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9066676 Nlrc5 NLR family CARD domain containing 5 gene DOID:630 genetic disease ISO RGD:1604572 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066676 Nlrc5 NLR family CARD domain containing 5 gene DOID:684 hepatocellular carcinoma ISO RGD:1604572 D RGD:9068941 20200609 RGD protein:increased expression:liver PMID:27338800|REF_RGD_ID:15003194 9066676 Nlrc5 NLR family CARD domain containing 5 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1604572 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26806094 9066676 Nlrc5 NLR family CARD domain containing 5 gene DOID:9006944 Alcoholic Fatty Liver ISO RGD:1604572 D RGD:9068941 20230706 CTD CTD Direct Evidence: marker/mechanism PMID:36708882 9066734 Fbxo45 F-box protein 45 gene DOID:0060419 chromosome 3q29 microdeletion syndrome ISO RGD:1349858 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome 9066734 Fbxo45 F-box protein 45 gene DOID:12849 autistic disorder ISO RGD:1349858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9066734 Fbxo45 F-box protein 45 gene DOID:5419 schizophrenia ISO RGD:1349858 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9066734 Fbxo45 F-box protein 45 gene DOID:630 genetic disease ISO RGD:1349858 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066741 Isoc1 isochorismatase domain containing 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1347473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9066741 Isoc1 isochorismatase domain containing 1 gene DOID:630 genetic disease ISO RGD:1347473 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066741 Isoc1 isochorismatase domain containing 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1347473 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9066741 Isoc1 isochorismatase domain containing 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1347473 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9066751 Tmem249 transmembrane protein 249 gene DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9066751 Tmem249 transmembrane protein 249 gene DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526 9066751 Tmem249 transmembrane protein 249 gene DOID:4621 holoprosencephaly ISO RGD:6767351 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 9066751 Tmem249 transmembrane protein 249 gene DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy ISO RGD:6767351 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy 9066761 Mcoln2 mucolipin TRP cation channel 2 gene DOID:630 genetic disease ISO RGD:1318909 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066791 Commd4 COMM domain containing 4 gene DOID:0060395 chromosome 15q24 deletion syndrome ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Witteveen-kolk syndrome PMID:18755302|PMID:19557438|PMID:21681106 9066791 Commd4 COMM domain containing 4 gene DOID:1826 epilepsy ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy 9066791 Commd4 COMM domain containing 4 gene DOID:2717 Bloom syndrome ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9066791 Commd4 COMM domain containing 4 gene DOID:5419 schizophrenia ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9066791 Commd4 COMM domain containing 4 gene DOID:630 genetic disease ISO RGD:1314525 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066791 Commd4 COMM domain containing 4 gene DOID:9256 colorectal cancer ISO RGD:1314525 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:731533 D RGD:7240710 20190306 OMIM 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:0060013 X-linked severe combined immunodeficiency ISO RGD:731533 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: X-linked severe combined immunodeficiency PMID:10444186|PMID:10784449|PMID:10792291|PMID:10794430|PMID:10794431|PMID:11129345|PMID:11213805|PMID:11260071|PMID:11874464|PMID:11961146|PMID:12070011|PMID:12126929|PMID:14722921|PMID:14966353|PMID:16199547|PMID:16227049|PMID:16293754|PMID:16760466|PMID:17576681|PMID:17598841|PMID:18615703|PMID:18641513|PMID:18728247|PMID:18941169|PMID:19398866|PMID:20301584|PMID:21184155|PMID:2169613|PMID:21732012|PMID:21865537|PMID:22039266|PMID:23250629|PMID:23374275|PMID:23683512|PMID:24534054|PMID:24612091|PMID:25042067|PMID:25326637|PMID:25741868|PMID:25843602|PMID:25869287|PMID:26525228|PMID:26547715|PMID:27484032|PMID:27566612|PMID:28109013|PMID:28359783|PMID:28492532|PMID:28747913|PMID:29658452|PMID:2984567|PMID:29948574|PMID:30622570|PMID:30778380|PMID:30850927|PMID:31024866|PMID:31799703|PMID:31965297|PMID:32265911|PMID:32499645|PMID:32888943|PMID:33412294|PMID:33628209|PMID:7557965|PMID:7632950|PMID:7668284|PMID:7683423|PMID:7860773|PMID:7883965|PMID:7973658|PMID:7973659|PMID:8027558|PMID:8088810|PMID:8298124|PMID:8299698|PMID:8401490|PMID:8462096|PMID:8522327|PMID:8541866|PMID:8557662|PMID:8605324|PMID:8712778|PMID:8781427|PMID:8900089|PMID:8961626|PMID:9049783|PMID:9058718|PMID:9150730|PMID:9150740|PMID:9399950|PMID:9536098|PMID:9633906|PMID:9885222 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:731533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:0080600 COVID-19 severity ISO RGD:731533 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32297828|REF_RGD_ID:32716368 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:12849 autistic disorder ISO RGD:731533 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:627 severe combined immunodeficiency ISO RGD:731533 D RGD:9068941 20200609 RGD X-linked SCID, OMIM:300400 PMID:7557965|REF_RGD_ID:1600009 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:731533 D RGD:7240710 20180130 OMIM 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:628 combined T cell and B cell immunodeficiency ISO RGD:731533 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency, X-linked | ClinVar Annotator: match by term: X-Linked Combined Immunodeficiency Diseases PMID:10792291|PMID:10794430|PMID:10794431|PMID:11129345|PMID:12126929|PMID:14966353|PMID:16199547|PMID:16227049|PMID:18641513|PMID:20301584|PMID:21184155|PMID:22039266|PMID:23683512|PMID:24534054|PMID:25042067|PMID:25741868|PMID:25869287|PMID:28492532|PMID:28747913|PMID:29948574|PMID:30622570|PMID:30778380|PMID:31799703|PMID:31965297|PMID:32499645|PMID:33628209|PMID:7557965|PMID:7632950|PMID:7668284|PMID:7883965|PMID:7973658|PMID:8088810|PMID:9049783|PMID:9058718|PMID:9399950|PMID:9633906 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:630 genetic disease ISO RGD:731533 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10794431|PMID:16227049|PMID:20301584|PMID:23683512|PMID:25042067|PMID:25741868|PMID:28492532|PMID:29948574|PMID:31965297|PMID:7557965|PMID:7668284|PMID:9399950 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:8541 Sezary's disease ISO RGD:731533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:26551670 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731533 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:9004654 Immune Deficiency Disease ISO RGD:621466 D RGD:9068941 20200609 RGD PMID:29688994|REF_RGD_ID:13628403 9066802 Il2rg interleukin 2 receptor subunit gamma gene DOID:9007898 FG Syndrome 1 ISO RGD:731533 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0050538 Charcot-Marie-Tooth disease type 1 ISO RGD:1348846 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:16199547|PMID:20220177|PMID:25741868|PMID:27068304|PMID:28492532 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0050541 Charcot-Marie-Tooth disease type 4 ISO RGD:1348846 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:14574644|PMID:16199547|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:19763152|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20307669|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22406018|PMID:22462672|PMID:22938532|PMID:22950825|PMID:22978647|PMID:23281072|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27025386|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:28902413|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31130284|PMID:31211173|PMID:31227790|PMID:31346473|PMID:31372974|PMID:31393079|PMID:31634715|PMID:31673878|PMID:31692161|PMID:31827005|PMID:32376792|PMID:33643188|PMID:34049139|PMID:34190362|PMID:34193129|PMID:34255403|PMID:9536098 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0050543 Charcot-Marie-Tooth disease intermediate type ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0060249 scoliosis ISO RGD:1348846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:20220177|PMID:20301641|PMID:21291453|PMID:22950825|PMID:23806086|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26794302|PMID:28492532 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0080954 arthrogryposis multiplex congenita ISO RGD:1348846 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Guérin-Stern syndrome PMID:20220177|PMID:20301641|PMID:21291453|PMID:22950825|PMID:23806086|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26794302|PMID:28492532 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0110152 Charcot-Marie-Tooth disease type 1B ISO RGD:1348846 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1B PMID:25741868|PMID:28492532 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0110183 Charcot-Marie-Tooth disease type 4C ISO RGD:1348846 D RGD:7240710 20180130 OMIM 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0110183 Charcot-Marie-Tooth disease type 4C ISO RGD:1348846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C | ClinVar Annotator: match by term: CMT 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4C PMID:14574644|PMID:16199547|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23281072|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:24088041|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31130284|PMID:31346473|PMID:31634715|PMID:31673878|PMID:32376792|PMID:34049139|PMID:34193129|PMID:9536098 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 ISO RGD:1348846 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Genetic motor neuron disease PMID:26467025|PMID:28492532 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:9536098 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348846 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:34255403|PMID:9536098 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348846 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22938532|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:34049139|PMID:34255403|PMID:9536098 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:10595 Charcot-Marie-Tooth disease ISO RGD:1348846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14574644|PMID:16326826|PMID:16806930|PMID:16924012|PMID:17470135|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:20826437|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22938532|PMID:22950825|PMID:22978647|PMID:23466821|PMID:23553667|PMID:23806086|PMID:24033266|PMID:25025039|PMID:25188385|PMID:25231362|PMID:25326637|PMID:25429913|PMID:25525159|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26752306|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29184351|PMID:29321516|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30373780|PMID:30653784|PMID:31130284|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31634715|PMID:31673878|PMID:32376792|PMID:33643188|PMID:34049139|PMID:34193129|PMID:34255403|PMID:9536098 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:12377 spinal muscular atrophy ISO RGD:1348846 D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:16199547|PMID:20220177|PMID:25614874|PMID:27068304|PMID:28492532|PMID:31827005 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:2477 motor peripheral neuropathy ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy PMID:25741868|PMID:28492532 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:3070 high grade glioma ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brainstem glioma 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:5419 schizophrenia ISO RGD:1348846 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:571 median neuropathy ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mononeuropathy of the Median Nerve PMID:25741868|PMID:26467025|PMID:28492532 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:574 peripheral nervous system disease ISO RGD:1348846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22462672|PMID:23466821|PMID:25429913|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30001926|PMID:31130284 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:630 genetic disease ISO RGD:1348846 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14574644|PMID:16199547|PMID:16806930|PMID:16924012|PMID:17576681|PMID:18414213|PMID:18511281|PMID:18787844|PMID:18846676|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22938532|PMID:22950825|PMID:23466821|PMID:23806086|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:29336362|PMID:3000192|PMID:30001926|PMID:30653784|PMID:31211173|PMID:31346473|PMID:31372974|PMID:31827005|PMID:32376792|PMID:33643188|PMID:34049139|PMID:34255403|PMID:9536098 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:870 neuropathy ISO RGD:1348846 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:22462672|PMID:23466821|PMID:25429913|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30001926|PMID:31130284 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9005946 Mononeuropathy of the Median Nerve, Mild ISO RGD:1348846 D RGD:7240710 20180130 OMIM 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9005946 Mononeuropathy of the Median Nerve, Mild ISO RGD:1348846 D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Mononeuropathy of the median nerve, mild | ClinVar Annotator: match by term: SH3TC2-related condition PMID:14574644|PMID:16806930|PMID:16924012|PMID:17576681|PMID:18414213|PMID:18511281|PMID:19086034|PMID:19272779|PMID:19744956|PMID:20028792|PMID:20220177|PMID:20301514|PMID:20301641|PMID:21291453|PMID:21840889|PMID:21892769|PMID:22462672|PMID:22950825|PMID:23466821|PMID:23806086|PMID:25025039|PMID:25188385|PMID:25326637|PMID:25429913|PMID:25614874|PMID:25737037|PMID:25741868|PMID:25741869|PMID:26257172|PMID:26392352|PMID:26467025|PMID:26794302|PMID:26872463|PMID:27068304|PMID:27231023|PMID:27549087|PMID:27582484|PMID:28492532|PMID:30001926|PMID:30653784|PMID:31346473|PMID:32376792|PMID:9536098 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1348846 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9066826 Sh3tc2 SH3 domain and tetratricopeptide repeats 2 gene DOID:9008305 Talipes Cavus ISO RGD:1348846 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pes cavus PMID:25741868|PMID:26392352|PMID:26467025|PMID:26872463|PMID:28492532 9066858 Hand1 heart and neural crest derivatives expressed 1 gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:737010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9066858 Hand1 heart and neural crest derivatives expressed 1 gene DOID:630 genetic disease ISO RGD:737010 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9066858 Hand1 heart and neural crest derivatives expressed 1 gene DOID:9000046 Poisoning ISO RGD:737010 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21964422 9066858 Hand1 heart and neural crest derivatives expressed 1 gene DOID:9003936 Cardiomegaly ISO RGD:621206 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart ventricle PMID:12359233|REF_RGD_ID:727442 9066858 Hand1 heart and neural crest derivatives expressed 1 gene DOID:9003936 Cardiomegaly ISO RGD:737011 D RGD:9068941 20200609 RGD mRNA:decreased expression:heart left ventricle PMID:12359233|REF_RGD_ID:727442 9066858 Hand1 heart and neural crest derivatives expressed 1 gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:737010 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9066858 Hand1 heart and neural crest derivatives expressed 1 gene DOID:9009087 Hypoplastic Left Heart Syndrome 1 ISO RGD:737010 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 1 PMID:28492532 9066858 Hand1 heart and neural crest derivatives expressed 1 gene DOID:9955 hypoplastic left heart syndrome ISO RGD:737010 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome PMID:25741868|PMID:28492532 9066885 Bicdl2 BICD family like cargo adaptor 2 gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1626601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 9066885 Bicdl2 BICD family like cargo adaptor 2 gene DOID:1826 epilepsy ISO RGD:1626601 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9066885 Bicdl2 BICD family like cargo adaptor 2 gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1626601 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9066885 Bicdl2 BICD family like cargo adaptor 2 gene DOID:630 genetic disease ISO RGD:1626601 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066902 Nt5dc3 5'-nucleotidase domain containing 3 gene DOID:630 genetic disease ISO RGD:1602220 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066929 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0110822 hereditary spastic paraplegia 77 ISO RGD:1342814 D RGD:7240710 20190315 OMIM 9066929 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0110822 hereditary spastic paraplegia 77 ISO RGD:1342814 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 | ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive PMID:25741868|PMID:25851414|PMID:26553276|PMID:28492532|PMID:29126765|PMID:30177229|PMID:30869852|PMID:31665838|PMID:32007496|PMID:32989326|PMID:33168986|PMID:33972171 9066929 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0111476 combined oxidative phosphorylation deficiency 19 ISO RGD:1342814 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19 PMID:25741868|PMID:28492532 9066929 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1342814 D RGD:7240710 20180130 OMIM 9066929 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:0111477 combined oxidative phosphorylation deficiency 14 ISO RGD:1342814 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 PMID:16199547|PMID:17576681|PMID:22499341|PMID:22833457|PMID:24161539|PMID:25558065|PMID:25640679|PMID:25741868|PMID:25851414|PMID:26553276|PMID:27095821|PMID:27549011|PMID:27652284|PMID:28043061|PMID:28419689|PMID:28492532|PMID:29126765|PMID:29302074|PMID:30177229|PMID:30250868|PMID:30634555|PMID:30869852|PMID:31329004|PMID:31665838|PMID:31692161|PMID:32007496|PMID:32597768|PMID:32774346|PMID:32989326|PMID:33168986|PMID:33176815|PMID:33972171|PMID:36531778|PMID:37523899|PMID:9536098 9066929 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:1059 intellectual disability ISO RGD:1342814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868 9066929 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:5419 schizophrenia ISO RGD:1342814 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schizophrenia 9066929 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:630 genetic disease ISO RGD:1342814 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22833457|PMID:25741868|PMID:28419689|PMID:28492532|PMID:29126765|PMID:32007496|PMID:32989326|PMID:36531778 9066929 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:890 mitochondrial encephalomyopathy ISO RGD:1342814 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial encephalomyopathy PMID:22499341|PMID:22833457|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30177229|PMID:30869852 9066929 Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial gene DOID:9008086 Developmental Disabilities ISO RGD:1342814 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:22499341|PMID:22833457|PMID:25558065|PMID:25741868|PMID:28492532|PMID:30177229|PMID:30869852 9066947 Ube2d1 ubiquitin conjugating enzyme E2 D1 gene DOID:630 genetic disease ISO RGD:1317341 D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066958 Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0050453 lissencephaly ISO RGD:1605568 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9066958 Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0110980 Joubert syndrome 1 ISO RGD:1605568 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:19764032|PMID:23954617|PMID:27821535|PMID:28492532 9066958 Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0112233 lissencephaly 8 ISO RGD:1605568 D RGD:7240710 20190315 OMIM 9066958 Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:0112233 lissencephaly 8 ISO RGD:1605568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lissencephaly 8 PMID:25741868|PMID:27773428|PMID:28097321|PMID:28492532|PMID:28973161 9066958 Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 gene DOID:630 genetic disease ISO RGD:1605568 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9066980 Zbed6 zinc finger BED-type containing 6 gene DOID:0111691 familial adult myoclonic epilepsy 5 ISO RGD:3322020 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 PMID:28492532 9066980 Zbed6 zinc finger BED-type containing 6 gene DOID:1540 parathyroid carcinoma ISO RGD:3322020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9066980 Zbed6 zinc finger BED-type containing 6 gene DOID:630 genetic disease ISO RGD:3322020 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066980 Zbed6 zinc finger BED-type containing 6 gene DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 ISO RGD:3322020 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:28492532 9066980 Zbed6 zinc finger BED-type containing 6 gene DOID:9253 gastrointestinal stromal tumor ISO RGD:3322020 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9066994 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:0060352 Kleefstra syndrome 1 ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758 9066994 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:0070244 primary coenzyme Q10 deficiency 7 ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:28492532 9066994 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:0080324 tuberous sclerosis 1 ISO RGD:1314713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 9066994 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:0080439 developmental and epileptic encephalopathy 14 ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 9066994 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:0081097 Rafiq syndrome ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Rafiq syndrome PMID:28492532 9066994 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:14720 Ehlers-Danlos syndrome classic type 1 ISO RGD:1314713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 9066994 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:3652 Leigh disease ISO RGD:1314713 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:28492532 9066994 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:630 genetic disease ISO RGD:1314713 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9066994 Rexo4 REX4 homolog, 3'-5' exonuclease gene DOID:9007479 Habitual Abortions ISO RGD:1314713 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Recurrent spontaneous abortion 9067021 Polr3f RNA polymerase III subunit F gene DOID:0111401 congenital dyserythropoietic anemia type II ISO RGD:1315038 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II PMID:28492532 9067021 Polr3f RNA polymerase III subunit F gene DOID:630 genetic disease ISO RGD:1315038 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9067021 Polr3f RNA polymerase III subunit F gene DOID:9003532 IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC) ISO RGD:1315038 D RGD:7240710 20220629 OMIM 9067021 Polr3f RNA polymerase III subunit F gene DOID:9003532 IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC) ISO RGD:1315038 D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Immunodeficiency 101 (varicella zoster virus-specific) 9067035 Etv1 ETS variant transcription factor 1 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1323762 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9067035 Etv1 ETS variant transcription factor 1 gene DOID:630 genetic disease ISO RGD:1323762 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067035 Etv1 ETS variant transcription factor 1 gene DOID:9002304 Prostatic Neoplasms ISO RGD:1323762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17173048|PMID:17671502|PMID:27783944 9067035 Etv1 ETS variant transcription factor 1 gene DOID:9008192 Neoplastic Processes ISO RGD:1323762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27783944 9067035 Etv1 ETS variant transcription factor 1 gene DOID:9008443 Colorectal Neoplasms ISO RGD:1323762 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30224643 9067068 Ppid peptidylprolyl isomerase D gene DOID:11372 megacolon ISO RGD:1342741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Megacolon PMID:21681106 9067068 Ppid peptidylprolyl isomerase D gene DOID:2316 brain ischemia ISO RGD:1553037 D RGD:9068941 20200609 RGD PMID:16103352|REF_RGD_ID:1580699 9067068 Ppid peptidylprolyl isomerase D gene DOID:630 genetic disease ISO RGD:1342741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067089 N4bp2 NEDD4 binding protein 2 gene DOID:630 genetic disease ISO RGD:1603992 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067089 N4bp2 NEDD4 binding protein 2 gene DOID:9000776 Hyperglycinemia, Lactic Acidosis, and Seizures ISO RGD:1603992 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES PMID:28492532 9067144 Myo5a myosin VA gene DOID:0060832 Griscelli syndrome type 1 ISO RGD:731453 D RGD:7240710 20180130 OMIM 9067144 Myo5a myosin VA gene DOID:0060832 Griscelli syndrome type 1 ISO RGD:731453 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 1 PMID:10704277|PMID:12058346|PMID:17576681|PMID:25326635|PMID:25741868|PMID:28492532|PMID:32275080|PMID:9207796|PMID:9536098 9067144 Myo5a myosin VA gene DOID:0060834 Griscelli syndrome type 3 ISO RGD:731453 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 3 PMID:12148598|PMID:12897212|PMID:22711375|PMID:25283056 9067144 Myo5a myosin VA gene DOID:1059 intellectual disability ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 9067144 Myo5a myosin VA gene DOID:2717 Bloom syndrome ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 9067144 Myo5a myosin VA gene DOID:543 dystonia ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dystonic disorder 9067144 Myo5a myosin VA gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9067144 Myo5a myosin VA gene DOID:574 peripheral nervous system disease ISO RGD:731453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20864405 9067144 Myo5a myosin VA gene DOID:607 paraplegia ISO RGD:731453 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942 9067144 Myo5a myosin VA gene DOID:630 genetic disease ISO RGD:731453 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9067144 Myo5a myosin VA gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:731453 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9067144 Myo5a myosin VA gene DOID:9005835 Congenital Abnormalities no_association ISO RGD:731453 D RGD:9068941 20200609 RGD Griscelli syndrome type I. OMIM:214450 PMID:12058346|REF_RGD_ID:1600821 9067144 Myo5a myosin VA gene DOID:9256 colorectal cancer ISO RGD:731453 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer PMID:28492532 9067189 Polm DNA polymerase mu gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1317912 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9067189 Polm DNA polymerase mu gene DOID:630 genetic disease ISO RGD:1317912 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067242 DRD5 dopamine receptor D5 gene DOID:9002584 Benign Essential Blepharospasm ISO RGD:731837 D RGD:9068941 20240321 CTD CTD Direct Evidence: marker/mechanism 9067242 Drd5 dopamine receptor D5 gene DOID:0050840 cervical dystonia ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11459908 9067242 Drd5 dopamine receptor D5 gene DOID:0060040 pervasive developmental disorder ISO RGD:731837 D RGD:9068941 20200609 RGD mRNA:decreased expression:blood PMID:21906006|REF_RGD_ID:5686422 9067242 Drd5 dopamine receptor D5 gene DOID:10652 Alzheimer's disease ISO RGD:731837 D RGD:9068941 20200609 RGD protein:increased expression:frontal cortex, neuron PMID:17182012|REF_RGD_ID:5686412 9067242 Drd5 dopamine receptor D5 gene DOID:10763 hypertension ISO RGD:10489 D RGD:9068941 20200609 RGD PMID:12486173|REF_RGD_ID:1580887 9067242 Drd5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:731837 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: HYPERACTIVITY OF CHILDHOOD PMID:10208453|PMID:14732906|PMID:18081165|PMID:27480019 9067242 Drd5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder no_association ISO RGD:731837 D RGD:9068941 20200609 RGD PMID:15389755|REF_RGD_ID:5686411 9067242 Drd5 dopamine receptor D5 gene DOID:1094 attention deficit hyperactivity disorder susceptibility ISO RGD:731837 D RGD:7240710 20240320 OMIM 9067242 Drd5 dopamine receptor D5 gene DOID:12858 Huntington's disease ISO RGD:68472 D RGD:9068941 20200609 RGD PMID:12111832|REF_RGD_ID:5686414 9067242 Drd5 dopamine receptor D5 gene DOID:14330 Parkinson's disease ISO RGD:731837 D RGD:9068941 20200609 RGD protein:increased expression:blood, lymphocyte PMID:10495037|REF_RGD_ID:5686418 9067242 Drd5 dopamine receptor D5 gene DOID:1596 depressive disorder ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 9067242 Drd5 dopamine receptor D5 gene DOID:2468 psychotic disorder ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 9067242 Drd5 dopamine receptor D5 gene DOID:3312 bipolar disorder ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14708030 9067242 Drd5 dopamine receptor D5 gene DOID:529 blepharospasm ISO RGD:731837 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:11781417 9067242 Drd5 dopamine receptor D5 gene DOID:529 blepharospasm ISO RGD:731837 D RGD:9068941 20200609 RGD DNA:repeat PMID:11781417|REF_RGD_ID:734899 9067242 Drd5 dopamine receptor D5 gene DOID:5419 schizophrenia ISO RGD:731837 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:27250208|PMID:29255361 9067242 Drd5 dopamine receptor D5 gene DOID:630 genetic disease ISO RGD:731837 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067242 Drd5 dopamine receptor D5 gene DOID:9002584 Benign Essential Blepharospasm susceptibility ISO RGD:731837 D RGD:7240710 20240320 OMIM 9067247 Arhgap9 Rho GTPase activating protein 9 gene DOID:0070454 hereditary spastic paraplegia 70 ISO RGD:1313314 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive PMID:24482476|PMID:28492532 9067247 Arhgap9 Rho GTPase activating protein 9 gene DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U ISO RGD:1313314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U PMID:17576681|PMID:24482476|PMID:28492532|PMID:9536098 9067247 Arhgap9 Rho GTPase activating protein 9 gene DOID:11840 coronary artery vasospasm ISO RGD:1313314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Coronary artery spasm 3, susceptibility to PMID:19911011 9067247 Arhgap9 Rho GTPase activating protein 9 gene DOID:2476 hereditary spastic paraplegia ISO RGD:1313314 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:28832565 9067247 Arhgap9 Rho GTPase activating protein 9 gene DOID:630 genetic disease ISO RGD:1313314 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9067247 Arhgap9 Rho GTPase activating protein 9 gene DOID:6846 familial melanoma ISO RGD:1313314 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:28492532 9067247 Arhgap9 Rho GTPase activating protein 9 gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:1313314 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9067247 Arhgap9 Rho GTPase activating protein 9 gene DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE ISO RGD:1313314 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND PMID:17576681|PMID:24482476|PMID:28492532|PMID:9536098 9067286 CUNHXorf65 chromosome unknown CXorf65 homolog gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:1606442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9067286 CUNHXorf65 chromosome unknown CXorf65 homolog gene DOID:12849 autistic disorder ISO RGD:1606442 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9067286 CUNHXorf65 chromosome unknown CXorf65 homolog gene DOID:630 genetic disease ISO RGD:1606442 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067286 CUNHXorf65 chromosome unknown CXorf65 homolog gene DOID:9007898 FG Syndrome 1 ISO RGD:1606442 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:28492532 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:0050700 cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:0080326 familial hypertrophic cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:0081374 nemaline myopathy 5B ISO RGD:733051 D RGD:7240710 20230705 OMIM 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:0081374 nemaline myopathy 5B ISO RGD:733051 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5B, autosomal recessive, childhood-onset PMID:25741868|PMID:31970803|PMID:35165004|PMID:35510366 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:0081375 nemaline myopathy 5C ISO RGD:733051 D RGD:7240710 20230705 OMIM 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:0081375 nemaline myopathy 5C ISO RGD:733051 D RGD:8554872 20230725 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5C, autosomal dominant PMID:14315666|PMID:28492532|PMID:29178646|PMID:35510366|PMID:5908457 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:0110313 hypertrophic cardiomyopathy 7 ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:24033266|PMID:25741868|PMID:28492532 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:0110460 dilated cardiomyopathy 2A ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:24033266|PMID:25741868|PMID:28492532 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:0110936 nemaline myopathy 5A ISO RGD:733051 D RGD:7240710 20180130 OMIM 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:0110936 nemaline myopathy 5A ISO RGD:733051 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Amish Type | ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type | ClinVar Annotator: match by term: Nemaline myopathy, caused by mutation in the troponin t1 gene PMID:10952871|PMID:12732643|PMID:15665378|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301465|PMID:24033266|PMID:24689076|PMID:25430424|PMID:25712079|PMID:25741868|PMID:26296490|PMID:26467025|PMID:27429059|PMID:27790152|PMID:28492532|PMID:29178646|PMID:32994279|PMID:9536098 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:0110936 nemaline myopathy 5A ISO RGD:733051 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Amish Type | ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type | ClinVar Annotator: match by term: Nemaline myopathy, caused by mutation in the troponin t1 gene PMID:10952871|PMID:12732643|PMID:14315666|PMID:15665378|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20301465|PMID:24033266|PMID:24689076|PMID:25430424|PMID:25712079|PMID:25741868|PMID:26296490|PMID:26467025|PMID:27429059|PMID:27790152|PMID:28492532|PMID:29178646|PMID:32994279|PMID:35510366|PMID:5908457|PMID:9536098 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:0111425 restrictive cardiomyopathy 1 ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 1 PMID:24033266|PMID:25741868|PMID:28492532 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:11984 hypertrophic cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:12930 dilated cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:3191 nemaline myopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:24033266|PMID:25741868|PMID:28492532 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:384 Wolff-Parkinson-White syndrome ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:397 restrictive cardiomyopathy ISO RGD:733051 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:423 myopathy ISO RGD:733051 D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Myopathy 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:630 genetic disease ISO RGD:733051 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10952871|PMID:12732643|PMID:17576681|PMID:24689076|PMID:25430424|PMID:25712079|PMID:25741868|PMID:26296490|PMID:27790152|PMID:28492532|PMID:9536098 9067309 Tnnt1 troponin T1, slow skeletal type gene DOID:9562 primary ciliary dyskinesia ISO RGD:733051 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:22387996|PMID:24033266|PMID:25741868|PMID:28492532 9067359 Nsmce1 NSE1 homolog, SMC5-SMC6 complex component gene DOID:630 genetic disease ISO RGD:1350522 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067386 Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ISO RGD:1316117 D RGD:7240710 20190315 OMIM 9067386 Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:0112079 nuclear type mitochondrial complex I deficiency 24 ISO RGD:1316117 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 PMID:22200994|PMID:25741868|PMID:28492532 9067386 Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:14743 trichorhinophalangeal syndrome type I ISO RGD:1316117 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I PMID:25741868 9067386 Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:630 genetic disease ISO RGD:1316117 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9067386 Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 gene DOID:9004657 Weight Gain ISO RGD:1316117 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19030233 9067402 Dtx2 deltex E3 ubiquitin ligase 2 gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:1322389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9067402 Dtx2 deltex E3 ubiquitin ligase 2 gene DOID:630 genetic disease ISO RGD:1322389 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067402 Dtx2 deltex E3 ubiquitin ligase 2 gene DOID:9006005 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB ISO RGD:1322389 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME 9067402 Dtx2 deltex E3 ubiquitin ligase 2 gene DOID:9007502 Brain Neoplasms ISO RGD:1322389 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21127729 9067433 Cdkl2 cyclin dependent kinase like 2 gene DOID:630 genetic disease ISO RGD:1320063 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067433 Cdkl2 cyclin dependent kinase like 2 gene DOID:891 progressive myoclonus epilepsy ISO RGD:1320063 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:19847901|PMID:28492532 9067433 Cdkl2 cyclin dependent kinase like 2 gene DOID:9000918 Disease Progression ISO RGD:1320063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 9067433 Cdkl2 cyclin dependent kinase like 2 gene DOID:9000965 Neoplasm Metastasis ISO RGD:1320063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 9067433 Cdkl2 cyclin dependent kinase like 2 gene DOID:9005233 Experimental Mammary Neoplasms ISO RGD:1320063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 9067433 Cdkl2 cyclin dependent kinase like 2 gene DOID:9007608 Neoplastic Cell Transformation ISO RGD:1320063 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25333262 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:0080016 spina bifida ISO RGD:1593621 D RGD:9068941 20200609 RGD PMID:20515739|REF_RGD_ID:9491842 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:14731 Weaver syndrome ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:25741868|PMID:30019515 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:1909 melanoma ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:1969 cerebral palsy ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebral palsy PMID:25741868 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3068 glioblastoma ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3070 high grade glioma ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3192 neurilemmoma ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:3307 teratoma ISO RGD:1344509 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Teratoma 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:5176 renal Wilms' tumor ISO RGD:1344509 D RGD:9068941 20221103 RGD human tumor in mouse model PMID:18467665|REF_RGD_ID:155631277 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:630 genetic disease ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:657 adenoma ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9001800 IMAGAWA-MATSUMOTO SYNDROME ISO RGD:1344509 D RGD:7240710 20200318 OMIM 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9001800 IMAGAWA-MATSUMOTO SYNDROME ISO RGD:1344509 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Imagawa-Matsumoto syndrome PMID:25741868|PMID:28229514|PMID:28492532|PMID:30019515|PMID:31736240 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9004217 Nerve Sheath Neoplasms ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25240281|PMID:25305755 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1344509 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9005120 Pigmented Nevus ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9006223 Kidney Reperfusion Injury ISO RGD:1619223 D RGD:9068941 20221103 RGD mRNA:altered expression:kidney (mouse) PMID:18467665|REF_RGD_ID:155631277 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9007715 Endometrial Neoplasms ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18264096 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9008086 Developmental Disabilities ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9008386 Hydrops Fetalis ISO RGD:1344509 D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:9008582 Developmental Disease ISO RGD:1344509 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868 9067450 Suz12 SUZ12 polycomb repressive complex 2 subunit gene DOID:962 neurofibroma ISO RGD:1344509 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25119042 9067469 Melk maternal embryonic leucine zipper kinase gene DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 PMID:28492532 9067469 Melk maternal embryonic leucine zipper kinase gene DOID:0080050 acromesomelic dysplasia, Maroteaux type ISO RGD:1319059 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 9067469 Melk maternal embryonic leucine zipper kinase gene DOID:0111597 distal arthrogryposis type 1A ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 9067469 Melk maternal embryonic leucine zipper kinase gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1319059 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868 9067469 Melk maternal embryonic leucine zipper kinase gene DOID:630 genetic disease ISO RGD:1319059 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067469 Melk maternal embryonic leucine zipper kinase gene DOID:684 hepatocellular carcinoma ISO RGD:1319059 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:28284560 9067469 Melk maternal embryonic leucine zipper kinase gene DOID:9562 primary ciliary dyskinesia ISO RGD:1319059 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 9067469 Melk maternal embryonic leucine zipper kinase gene DOID:9870 galactosemia ISO RGD:1319059 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:28492532 9067495 Gjb5 gap junction protein beta 5 gene DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C ISO RGD:732046 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C PMID:28492532 9067495 Gjb5 gap junction protein beta 5 gene DOID:630 genetic disease ISO RGD:732046 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067495 Gjb5 gap junction protein beta 5 gene DOID:9004464 Skin Neoplasms ISO RGD:732046 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:7586191 9067501 Epo erythropoietin gene DOID:0050700 cardiomyopathy ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16449733|PMID:16731534|PMID:17924179|PMID:17928571 9067501 Epo erythropoietin gene DOID:0050852 limb ischemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23294128|REF_RGD_ID:10400895 9067501 Epo erythropoietin gene DOID:0050908 myelodysplastic syndrome ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12670338|PMID:16076383 9067501 Epo erythropoietin gene DOID:0060903 thrombosis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:14979412|PMID:25013951 9067501 Epo erythropoietin gene DOID:0080290 familial erythrocytosis 5 ISO RGD:735849 D RGD:7240710 20190315 OMIM 9067501 Epo erythropoietin gene DOID:0080290 familial erythrocytosis 5 ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Erythrocytosis, familial, 5 PMID:27651169|PMID:29514032 9067501 Epo erythropoietin gene DOID:10652 Alzheimer's disease treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22004348|PMID:23813967|REF_RGD_ID:10395389|REF_RGD_ID:10400882 9067501 Epo erythropoietin gene DOID:1074 kidney failure ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:22013135 9067501 Epo erythropoietin gene DOID:10763 hypertension ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10694834|PMID:1516988 9067501 Epo erythropoietin gene DOID:10808 gastric ulcer ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20723003 9067501 Epo erythropoietin gene DOID:114 heart disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16707910 9067501 Epo erythropoietin gene DOID:11713 diabetic angiopathy ISO RGD:735849 D RGD:7240710 20180130 OMIM 9067501 Epo erythropoietin gene DOID:11713 diabetic angiopathy ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 2 PMID:18458324 9067501 Epo erythropoietin gene DOID:11832 visual epilepsy treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:23518641|REF_RGD_ID:10401076 9067501 Epo erythropoietin gene DOID:1184 nephrotic syndrome treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23128049|REF_RGD_ID:11041725 9067501 Epo erythropoietin gene DOID:12241 beta thalassemia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16225658 9067501 Epo erythropoietin gene DOID:12450 pancytopenia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9051142 9067501 Epo erythropoietin gene DOID:12554 hemolytic-uremic syndrome ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12053072 9067501 Epo erythropoietin gene DOID:1289 neurodegenerative disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15816862 9067501 Epo erythropoietin gene DOID:1289 neurodegenerative disease susceptibility ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:16339796|REF_RGD_ID:10400893 9067501 Epo erythropoietin gene DOID:13025 retinopathy of prematurity ISO RGD:2559 D RGD:9068941 20200609 RGD protein:decreased expression:retina: PMID:24630601|REF_RGD_ID:11041658 9067501 Epo erythropoietin gene DOID:13268 porphyria ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus,nephrosclerosis PMID:17435269|REF_RGD_ID:2313839 9067501 Epo erythropoietin gene DOID:1389 polyneuropathy ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17010629 9067501 Epo erythropoietin gene DOID:14330 Parkinson's disease treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:19727138|REF_RGD_ID:10400901 9067501 Epo erythropoietin gene DOID:1561 cognitive disorder ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20833152 9067501 Epo erythropoietin gene DOID:1588 thrombocytopenia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8260696 9067501 Epo erythropoietin gene DOID:1612 breast cancer ISO RGD:735849 D RGD:9068941 20200609 RGD protein:increased expression:breast: PMID:12118093|REF_RGD_ID:11041669 9067501 Epo erythropoietin gene DOID:1657 ventricular septal defect ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 9067501 Epo erythropoietin gene DOID:1686 glaucoma ISO RGD:2559 D RGD:9068941 20200609 RGD protein:increased expression:retina: PMID:17554621|REF_RGD_ID:11041649 9067501 Epo erythropoietin gene DOID:1686 glaucoma ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:17554621|PMID:19741249|REF_RGD_ID:10401071|REF_RGD_ID:11041649 9067501 Epo erythropoietin gene DOID:178 vascular disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25013951 9067501 Epo erythropoietin gene DOID:182 calcinosis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12148126 9067501 Epo erythropoietin gene DOID:1824 status epilepticus ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16679645|PMID:17166730 9067501 Epo erythropoietin gene DOID:1909 melanoma ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15743794 9067501 Epo erythropoietin gene DOID:224 transient cerebral ischemia treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:22282883|REF_RGD_ID:10401060 9067501 Epo erythropoietin gene DOID:224 transient cerebral ischemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:24702327|REF_RGD_ID:11041699 9067501 Epo erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism|therapeutic PMID:10506726|PMID:10713657|PMID:11245434|PMID:11273875|PMID:11454181|PMID:11569724|PMID:11828949|PMID:11981781|PMID:12670280|PMID:12713065|PMID:12820454|PMID:12897097|PMID:12899718|PMID:14568602|PMID:14706663|PMID:15160343|PMID:1516988|PMID:15232364|PMID:15660393|PMID:1574960|PMID:16434484|PMID:16511603|PMID:16637862|PMID:16707910|PMID:16798232|PMID:16949463|PMID:16970215|PMID:16970600|PMID:17058596|PMID:17168855|PMID:17180133|PMID:17288690|PMID:17397412|PMID:17409018|PMID:17559739|PMID:18265628|PMID:18403296|PMID:18611800|PMID:18695134|PMID:1893952|PMID:19015056|PMID:19212639|PMID:19787831|PMID:1982298|PMID:20189893|PMID:20303990|PMID:21860424|PMID:2186273|PMID:2206997|PMID:22174104|PMID:23077460|PMID:7529132|PMID:7602351|PMID:7631396|PMID:7732690|PMID:8202718|PMID:8250662|PMID:8260696|PMID:8418619|PMID:8504984|PMID:9118049|PMID:9616293|PMID:9617462|PMID:9743294 9067501 Epo erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum PMID:15855576|REF_RGD_ID:2313896 9067501 Epo erythropoietin gene DOID:2355 anemia ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetic Nephropathies;protein:decreased expression:serum PMID:16681558|REF_RGD_ID:2313843 9067501 Epo erythropoietin gene DOID:3021 acute kidney failure ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21847101|PMID:24561306 9067501 Epo erythropoietin gene DOID:3021 acute kidney failure treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22209169|PMID:22235348|REF_RGD_ID:10400913|REF_RGD_ID:11041660 9067501 Epo erythropoietin gene DOID:3070 high grade glioma ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:21749867|REF_RGD_ID:10400910 9067501 Epo erythropoietin gene DOID:331 central nervous system disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15816862 9067501 Epo erythropoietin gene DOID:332 amyotrophic lateral sclerosis disease_progression ISO RGD:735849 D RGD:9068941 20200609 RGD protein:decreased expression:cerebrospinal fluid PMID:17368721|REF_RGD_ID:10395391 9067501 Epo erythropoietin gene DOID:3393 coronary artery disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:25245553 9067501 Epo erythropoietin gene DOID:3525 middle cerebral artery infarction treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20547143|PMID:20833153|REF_RGD_ID:10400898|REF_RGD_ID:10401066 9067501 Epo erythropoietin gene DOID:3827 congenital diaphragmatic hernia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:27880037 9067501 Epo erythropoietin gene DOID:3891 placental insufficiency treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20809703|REF_RGD_ID:10400897 9067501 Epo erythropoietin gene DOID:4449 macular retinal edema severity ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20664492|REF_RGD_ID:10400883 9067501 Epo erythropoietin gene DOID:4676 uremia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:12675867 9067501 Epo erythropoietin gene DOID:4852 pleomorphic xanthoastrocytoma ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma PMID:28299358 9067501 Epo erythropoietin gene DOID:4947 cholangiocarcinoma ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:liver PMID:23052842|REF_RGD_ID:10400912 9067501 Epo erythropoietin gene DOID:5327 retinal detachment ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA,protein:increased expression:retina: PMID:17882708|REF_RGD_ID:11041648 9067501 Epo erythropoietin gene DOID:5327 retinal detachment treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:22020175|REF_RGD_ID:10401069 9067501 Epo erythropoietin gene DOID:557 kidney disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20606417 9067501 Epo erythropoietin gene DOID:583 hemolytic anemia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:10733367|PMID:16629641|PMID:20446436 9067501 Epo erythropoietin gene DOID:5844 myocardial infarction ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 9067501 Epo erythropoietin gene DOID:5844 myocardial infarction treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:21415704|REF_RGD_ID:10400907 9067501 Epo erythropoietin gene DOID:6000 congestive heart failure treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Myocardial Infarction PMID:20139114|REF_RGD_ID:10401073 9067501 Epo erythropoietin gene DOID:627 severe combined immunodeficiency ISO RGD:10531 D RGD:9068941 20200609 RGD Protein: decreased expression:skin PMID:19826948|REF_RGD_ID:2313831 9067501 Epo erythropoietin gene DOID:630 genetic disease ISO RGD:735849 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067501 Epo erythropoietin gene DOID:6432 pulmonary hypertension treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22559233|REF_RGD_ID:10400914 9067501 Epo erythropoietin gene DOID:684 hepatocellular carcinoma disease_progression ISO RGD:735849 D RGD:9068941 20220901 RGD mRNA:increased expression:liver (human) PMID:35693827|REF_RGD_ID:153344586 9067501 Epo erythropoietin gene DOID:783 end stage renal disease ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:16707910 9067501 Epo erythropoietin gene DOID:8466 retinal degeneration treatment ISO RGD:10531 D RGD:9068941 20200609 RGD PMID:21421996|REF_RGD_ID:10400896 9067501 Epo erythropoietin gene DOID:8725 vascular dementia ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:17037738|REF_RGD_ID:10400891 9067501 Epo erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:9068941 20200609 RGD DNA:snp:promoter:-1125T>G(rs1617640)(human) PMID:18458324|REF_RGD_ID:2313838 9067501 Epo erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:18235022|REF_RGD_ID:2313890 9067501 Epo erythropoietin gene DOID:8947 diabetic retinopathy ISO RGD:735849 D RGD:9068941 20200609 RGD protein:increased expression:serum,vitreous body PMID:18670462|REF_RGD_ID:2313837 9067501 Epo erythropoietin gene DOID:8947 diabetic retinopathy susceptibility ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:24508793|REF_RGD_ID:10400906 9067501 Epo erythropoietin gene DOID:9000039 Spinal Cord Injuries treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22196867|REF_RGD_ID:10401074 9067501 Epo erythropoietin gene DOID:9000046 Poisoning ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:15727166 9067501 Epo erythropoietin gene DOID:9000184 Ventricular Fibrillation ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18156309 9067501 Epo erythropoietin gene DOID:9000438 Subarachnoid Hemorrhage treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23907045|REF_RGD_ID:10400909 9067501 Epo erythropoietin gene DOID:9000656 Penetrating Wounds treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental PMID:21326299|REF_RGD_ID:10401063 9067501 Epo erythropoietin gene DOID:9000892 Fetal Distress ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:brain, serum PMID:22099204|REF_RGD_ID:10401064 9067501 Epo erythropoietin gene DOID:9000965 Neoplasm Metastasis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 9067501 Epo erythropoietin gene DOID:9000998 Brain Injuries ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA:increased expression:brain: PMID:18093155|REF_RGD_ID:2293059 9067501 Epo erythropoietin gene DOID:9000998 Brain Injuries ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:20833152 9067501 Epo erythropoietin gene DOID:9000998 Brain Injuries treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23063952|REF_RGD_ID:10401061 9067501 Epo erythropoietin gene DOID:9001542 Albuminuria ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum PMID:16921186|REF_RGD_ID:2313841 9067501 Epo erythropoietin gene DOID:9001553 Spinal Cord Compression ISO RGD:2559 D RGD:9068941 20200609 RGD protein:increased expression:neuron, endothelium, glia: PMID:15792521|REF_RGD_ID:11041719 9067501 Epo erythropoietin gene DOID:9001708 Hemorrhagic Shock treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20539178|REF_RGD_ID:10401059 9067501 Epo erythropoietin gene DOID:9001981 Weight Loss ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:8260696 9067501 Epo erythropoietin gene DOID:9002159 Liver Reperfusion Injury treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:25769561|REF_RGD_ID:15090809 9067501 Epo erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:9068941 20200609 RGD DNA:snp:promoter:-1125T>G(rs1617640)(human) PMID:18458324|REF_RGD_ID:2313838 9067501 Epo erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:9068941 20200609 RGD Protein:decreased expression:serum PMID:19619913|REF_RGD_ID:2313832 9067501 Epo erythropoietin gene DOID:9002165 Diabetic Nephropathies ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:19356735|REF_RGD_ID:2313833 9067501 Epo erythropoietin gene DOID:9002331 Knee Osteoarthritis treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:25422652|REF_RGD_ID:10400892 9067501 Epo erythropoietin gene DOID:9002763 Experimental Autoimmune Encephalomyelitis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18382691 9067501 Epo erythropoietin gene DOID:9002955 Nerve Degeneration ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:17010629|PMID:17166730|PMID:19497871|PMID:30837834 9067501 Epo erythropoietin gene DOID:9003676 Brain Hypoxia-Ischemia ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:24034924|REF_RGD_ID:10400911 9067501 Epo erythropoietin gene DOID:9003676 Brain Hypoxia-Ischemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22156696|REF_RGD_ID:10401072 9067501 Epo erythropoietin gene DOID:9003871 Venous Thrombosis ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12670338|PMID:17547733 9067501 Epo erythropoietin gene DOID:9004086 AIDS Dementia Complex treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:20818790|REF_RGD_ID:10395393 9067501 Epo erythropoietin gene DOID:9004303 Tubulointerstitial Fibrosis treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22678524|REF_RGD_ID:10401065 9067501 Epo erythropoietin gene DOID:9004547 Thyroid Neoplasms ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 9067501 Epo erythropoietin gene DOID:9004575 Neoplasm Invasiveness ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16699298 9067501 Epo erythropoietin gene DOID:9004702 Pregnancy Complications ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid PMID:15502930|REF_RGD_ID:2313897 9067501 Epo erythropoietin gene DOID:9004713 Acute-Phase Reaction ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA, protein:increased expression:multiple PMID:19840250|REF_RGD_ID:10395370 9067501 Epo erythropoietin gene DOID:9004756 Brain Hypoxia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:21116766|REF_RGD_ID:10400899 9067501 Epo erythropoietin gene DOID:9004756 Brain Hypoxia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Brain Injuries PMID:24344874|REF_RGD_ID:10401067 9067501 Epo erythropoietin gene DOID:9005141 Ventricular Tachycardia ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18156309 9067501 Epo erythropoietin gene DOID:9005233 Experimental Mammary Neoplasms treatment ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:12118093|REF_RGD_ID:11041669 9067501 Epo erythropoietin gene DOID:9005372 Inflammation ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:21497595 9067501 Epo erythropoietin gene DOID:9005474 Experimental Sarcoma ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:9743294 9067501 Epo erythropoietin gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:2559 D RGD:9068941 20200609 RGD mRNA:increased expression:Schwann cell: PMID:24673486|REF_RGD_ID:11041670 9067501 Epo erythropoietin gene DOID:9005749 Necrosis treatment ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Ischemia PMID:22924373|REF_RGD_ID:8655615 9067501 Epo erythropoietin gene DOID:9005930 Endotoxemia treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23214195|REF_RGD_ID:10400903 9067501 Epo erythropoietin gene DOID:9006223 Kidney Reperfusion Injury treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:19961832|PMID:25581532|REF_RGD_ID:10401077|REF_RGD_ID:11041698 9067501 Epo erythropoietin gene DOID:9006617 Fatigue ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: therapeutic PMID:18695134 9067501 Epo erythropoietin gene DOID:9006647 Experimental Autoimmune Neuritis ISO RGD:2559 D RGD:9068941 20200609 RGD PMID:20361946|REF_RGD_ID:10400894 9067501 Epo erythropoietin gene DOID:9006676 Micronuclei, Chromosome-Defective ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30944280 9067501 Epo erythropoietin gene DOID:9006839 Anastomotic Leak treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:22149012|REF_RGD_ID:10400902 9067501 Epo erythropoietin gene DOID:9006924 Cardiogenic Shock ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19337937 9067501 Epo erythropoietin gene DOID:9007199 Paraneoplastic Syndromes ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:10713657 9067501 Epo erythropoietin gene DOID:9007622 Acute Subdural Hematoma treatment ISO RGD:735849 D RGD:9068941 20200609 RGD PMID:23415790|REF_RGD_ID:10401075 9067501 Epo erythropoietin gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:735849 D RGD:7240710 20190315 OMIM 9067501 Epo erythropoietin gene DOID:9009142 Diamond-Blackfan Anemia-Like ISO RGD:735849 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia-like PMID:28283061 9067501 Epo erythropoietin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735849 D RGD:9068941 20200609 RGD mRNA:increased expression:retina PMID:16936148|REF_RGD_ID:2313840 9067501 Epo erythropoietin gene DOID:9352 type 2 diabetes mellitus ISO RGD:735849 D RGD:9068941 20200609 RGD protein:decreased expression:plasma PMID:16911620|REF_RGD_ID:2313842 9067501 Epo erythropoietin gene DOID:9477 pulmonary embolism ISO RGD:735849 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:12670338 9067501 Epo erythropoietin gene DOID:9743 diabetic neuropathy ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Experimental; PMID:19244253|REF_RGD_ID:2313834 9067501 Epo erythropoietin gene DOID:9993 hypoglycemia ISO RGD:735849 D RGD:9068941 20200609 RGD associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma PMID:19211168|REF_RGD_ID:2313835 9067517 Znf133 zinc finger protein 133 gene DOID:630 genetic disease ISO RGD:1343941 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067547 Antkmt adenine nucleotide translocase lysine methyltransferase gene DOID:0080325 tuberous sclerosis 2 ISO RGD:1343313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:16114042|PMID:17287951|PMID:28492532|PMID:29932062 9067547 Antkmt adenine nucleotide translocase lysine methyltransferase gene DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly ISO RGD:1343313 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532 9067547 Antkmt adenine nucleotide translocase lysine methyltransferase gene DOID:1826 epilepsy ISO RGD:1343313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 9067547 Antkmt adenine nucleotide translocase lysine methyltransferase gene DOID:1827 idiopathic generalized epilepsy ISO RGD:1343313 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 9067547 Antkmt adenine nucleotide translocase lysine methyltransferase gene DOID:630 genetic disease ISO RGD:1343313 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067561 Zfat zinc finger and AT-hook domain containing gene DOID:630 genetic disease ISO RGD:1322045 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067561 Zfat zinc finger and AT-hook domain containing gene DOID:7188 autoimmune thyroiditis ISO RGD:1322045 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 PMID:11440990|PMID:15294872|PMID:25741868|PMID:28940097 9067561 Zfat zinc finger and AT-hook domain containing gene DOID:7188 autoimmune thyroiditis susceptibility ISO RGD:1322045 D RGD:7240710 20190502 OMIM 9067626 Spats2 spermatogenesis associated serine rich 2 gene DOID:630 genetic disease ISO RGD:1312420 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067657 Ttc28 tetratricopeptide repeat domain 28 gene DOID:630 genetic disease ISO RGD:1601773 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9067657 Ttc28 tetratricopeptide repeat domain 28 gene DOID:9005539 Familial Prostate Cancer ISO RGD:1601773 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:29892016 9067683 Fgf18 fibroblast growth factor 18 gene DOID:10908 hydrocephalus ISO RGD:737083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hydrocephalus PMID:29983323 9067683 Fgf18 fibroblast growth factor 18 gene DOID:11612 polycystic ovary syndrome ISO RGD:737083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:21411543 9067683 Fgf18 fibroblast growth factor 18 gene DOID:1790 malignant mesothelioma ISO RGD:737083 D RGD:9068941 20210312 CTD CTD Direct Evidence: marker/mechanism PMID:25756049 9067683 Fgf18 fibroblast growth factor 18 gene DOID:3910 lung adenocarcinoma ISO RGD:737083 D RGD:9068941 20220520 RGD mRNA:decreased expression:lung (human) PMID:19296538|REF_RGD_ID:150429981 9067683 Fgf18 fibroblast growth factor 18 gene DOID:630 genetic disease ISO RGD:737083 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067683 Fgf18 fibroblast growth factor 18 gene DOID:8398 osteoarthritis ISO RGD:737083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:30664745 9067683 Fgf18 fibroblast growth factor 18 gene DOID:9007661 Dwarfism ISO RGD:737083 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 9067683 Fgf18 fibroblast growth factor 18 gene DOID:9009073 Diaphragmatic Hernia ISO RGD:737083 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17303798 9067692 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:28492532 9067692 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:12930 dilated cardiomyopathy ISO RGD:737583 D RGD:9068941 20200609 RGD PMID:15345656|REF_RGD_ID:1580779 9067692 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:1540 parathyroid carcinoma ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Parathyroid carcinoma PMID:28492532 9067692 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:630 genetic disease ISO RGD:737583 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25356970|PMID:25741868|PMID:28492532 9067692 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9000161 Autosomal Recessive Nonsyndromic Deafness 120 ISO RGD:737583 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 120 9067692 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9000884 Rhabdomyolysis ISO RGD:737583 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: OBSCN-related condition | ClinVar Annotator: match by term: Rhabdomyolysis, susceptibility to, 1 PMID:16199547|PMID:25741868|PMID:28492532|PMID:34957489 9067692 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9000884 Rhabdomyolysis susceptibility ISO RGD:737583 D RGD:7240710 20230215 OMIM 9067692 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9007661 Dwarfism ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature 9067692 Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF gene DOID:9253 gastrointestinal stromal tumor ISO RGD:737583 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:28492532 9067808 Fam3b FAM3 metabolism regulating signaling molecule B gene DOID:12849 autistic disorder ISO RGD:1323237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9067808 Fam3b FAM3 metabolism regulating signaling molecule B gene DOID:630 genetic disease ISO RGD:1323237 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067808 Fam3b FAM3 metabolism regulating signaling molecule B gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1323237 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9067827 Prpsap1 phosphoribosyl pyrophosphate synthetase associated protein 1 gene DOID:630 genetic disease ISO RGD:733778 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067841 Ciapin1 cytokine induced apoptosis inhibitor 1 gene DOID:0050709 early infantile epileptic encephalopathy ISO RGD:1346049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9067841 Ciapin1 cytokine induced apoptosis inhibitor 1 gene DOID:0112202 developmental and epileptic encephalopathy ISO RGD:1346049 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9067841 Ciapin1 cytokine induced apoptosis inhibitor 1 gene DOID:1935 Bardet-Biedl syndrome ISO RGD:1346049 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059 9067841 Ciapin1 cytokine induced apoptosis inhibitor 1 gene DOID:630 genetic disease ISO RGD:1346049 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:0070193 autosomal recessive chronic granulomatous disease 4 ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:0080150 adrenocorticotropic hormone deficiency ISO RGD:1318815 D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: ACTH deficiency PMID:25741868 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:0110619 primary ciliary dyskinesia 33 ISO RGD:1318815 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 PMID:28492532 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:0111391 mucopolysaccharidosis IVA ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:25545067|PMID:25741868|PMID:28492532|PMID:34387910 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:0111576 dehydrated hereditary stomatocytosis 1 ISO RGD:1318815 D RGD:7240710 20180130 OMIM 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:0111576 dehydrated hereditary stomatocytosis 1 ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH PMID:16898969|PMID:17253968|PMID:21944700|PMID:22529292|PMID:23479567|PMID:23487776|PMID:23581886|PMID:23695678|PMID:23973043|PMID:24033266|PMID:24314002|PMID:25741868|PMID:28492532|PMID:28518170|PMID:28716860|PMID:28971506|PMID:29449963|PMID:29952828|PMID:5559828|PMID:89283|PMID:9827909 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:14780 KBG syndrome ISO RGD:1318815 D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: KBG syndrome PMID:31690835 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:583 hemolytic anemia ISO RGD:1318815 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hemolytic anemia PMID:25741868 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:589 congenital hemolytic anemia ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital hemolytic anemia PMID:25741868 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:630 genetic disease ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:36122374 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:8488 polyhydramnios ISO RGD:1318815 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Polyhydramnios PMID:25741868|PMID:28492532|PMID:30244526|PMID:31680349 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:9000957 lymphatic malformation 6 ISO RGD:1318815 D RGD:7240710 20190315 OMIM 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:9000957 lymphatic malformation 6 ISO RGD:1318815 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 6 | ClinVar Annotator: match by term: Lymphatic malformation 6 | ClinVar Annotator: match by term: Lymphedema, hereditary, III | ClinVar Annotator: match by term: PIEZO1-related condition PMID:11001917|PMID:23479567|PMID:24033266|PMID:25741868|PMID:25741889|PMID:26333996|PMID:26780541|PMID:28492532|PMID:28619848|PMID:28716860|PMID:30244526|PMID:30655378|PMID:31040790|PMID:31624108|PMID:34656527|PMID:34681667|PMID:34737711|PMID:36122374|PMID:36701166|PMID:36959127 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:9003864 16Q24.3 Microdeletion Syndrome ISO RGD:1318815 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:9004927 Stomatocytosis II ISO RGD:1318815 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stomatocytosis II PMID:16898969|PMID:17253968|PMID:21944700|PMID:22529292|PMID:23479567|PMID:23487776|PMID:23581886|PMID:23695678|PMID:23973043|PMID:24033266|PMID:24314002|PMID:25741868|PMID:28492532|PMID:28518170|PMID:28716860|PMID:28971506|PMID:29449963|PMID:29952828|PMID:5559828|PMID:89283|PMID:9827909 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:9008386 Hydrops Fetalis ISO RGD:1318815 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:28492532|PMID:28619848|PMID:30187933|PMID:30244526|PMID:30655378|PMID:30887001|PMID:31091145|PMID:31624108|PMID:31680349|PMID:32981126|PMID:33027564 9067860 Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) gene DOID:9009244 Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome ISO RGD:1318815 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome PMID:25741868|PMID:28492532 9067917 Ftl ferritin light chain gene DOID:0080600 COVID-19 severity ISO RGD:1346340 D RGD:9068941 20200625 RGD associated with hyperglycemia;protein:increased expression:serum (human) PMID:32406594|REF_RGD_ID:32698682 9067917 Ftl ferritin light chain gene DOID:0080600 COVID-19 severity ISO RGD:1346340 D RGD:9068941 20200625 RGD protein:increased expression:serum (human) PMID:32365221|REF_RGD_ID:30310229 9067917 Ftl ferritin light chain gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1346340 D RGD:7240710 20180130 OMIM 9067917 Ftl ferritin light chain gene DOID:0110737 neurodegeneration with brain iron accumulation 3 ISO RGD:1346340 D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 3 | ClinVar Annotator: match by term: Neuroferritinopathy PMID:11438811|PMID:12746423|PMID:14662596|PMID:16116125|PMID:17182944|PMID:18413574|PMID:18414213|PMID:18854324|PMID:21907119|PMID:23421845|PMID:23592921|PMID:25741868|PMID:25832658|PMID:26849797|PMID:28492532|PMID:9414300 9067917 Ftl ferritin light chain gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1346340 D RGD:7240710 20180130 OMIM 9067917 Ftl ferritin light chain gene DOID:0111256 hyperferritinemia-cataract syndrome ISO RGD:1346340 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts PMID:10366790|PMID:10366804|PMID:10383191|PMID:10759702|PMID:11438811|PMID:11703332|PMID:11849230|PMID:12199804|PMID:12200611|PMID:12670350|PMID:12730114|PMID:12746423|PMID:14662596|PMID:15173247|PMID:15690351|PMID:16395671|PMID:16518306|PMID:16900584|PMID:17182944|PMID:17576681|PMID:18414213|PMID:18710380|PMID:18854324|PMID:19176363|PMID:19800271|PMID:21541272|PMID:21907119|PMID:22881709|PMID:23300176|PMID:2336358|PMID:23421845|PMID:23592921|PMID:24766965|PMID:25741868|PMID:25832658|PMID:26633542|PMID:26849797|PMID:27096259|PMID:28492532|PMID:28746593|PMID:29269865|PMID:30401656|PMID:30678075|PMID:31414986|PMID:32241646|PMID:7492760|PMID:7493028|PMID:7669675|PMID:8233801|PMID:8781450|PMID:9226182|PMID:9292547|PMID:9414300|PMID:9414313|PMID:9536098|PMID:9726965 9067917 Ftl ferritin light chain gene DOID:1289 neurodegenerative disease ISO RGD:1346340 D RGD:9068941 20200609 RGD DNA:insertion:exon:498_499InsTC (human) PMID:15099026|REF_RGD_ID:5509840 9067917 Ftl ferritin light chain gene DOID:1289 neurodegenerative disease ISO RGD:1346340 D RGD:9068941 20200609 RGD DNA:insertion:exon:498_499insTC PMID:19519778|REF_RGD_ID:5509863 9067917 Ftl ferritin light chain gene DOID:1289 neurodegenerative disease ISO RGD:62105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15964507 9067917 Ftl ferritin light chain gene DOID:1289 neurodegenerative disease ISO RGD:62105 D RGD:9068941 20200609 RGD protein:increased expression:brain PMID:19519778|REF_RGD_ID:5509863 9067917 Ftl ferritin light chain gene DOID:1596 depressive disorder ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17063146 9067917 Ftl ferritin light chain gene DOID:2351 iron metabolism disease ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16822677 9067917 Ftl ferritin light chain gene DOID:630 genetic disease ISO RGD:1346340 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23940258|PMID:28492532 9067917 Ftl ferritin light chain gene DOID:679 basal ganglia disease ISO RGD:1346340 D RGD:9068941 20200609 RGD DNA:insertion:exon:460_461insA(human) PMID:11438811|REF_RGD_ID:5509839 9067917 Ftl ferritin light chain gene DOID:7693 abdominal aortic aneurysm ISO RGD:1346340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 9067917 Ftl ferritin light chain gene DOID:8398 osteoarthritis ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:18784066 9067917 Ftl ferritin light chain gene DOID:9000058 Keloid ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20128793 9067917 Ftl ferritin light chain gene DOID:9000965 Neoplasm Metastasis ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17085005 9067917 Ftl ferritin light chain gene DOID:9001196 Nervous System Heredodegenerative Disorders ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:16825958 9067917 Ftl ferritin light chain gene DOID:9004575 Neoplasm Invasiveness ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20390345 9067917 Ftl ferritin light chain gene DOID:9004878 L-Ferritin Deficiency ISO RGD:1346340 D RGD:7240710 20180130 OMIM 9067917 Ftl ferritin light chain gene DOID:9004878 L-Ferritin Deficiency ISO RGD:1346340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: L-ferritin deficiency | ClinVar Annotator: match by term: L-ferritin deficiency, autosomal recessive PMID:15173247|PMID:17182944|PMID:18414213|PMID:23940258|PMID:25741868|PMID:28492532|PMID:30678075 9067917 Ftl ferritin light chain gene DOID:9005648 Glycogen Storage Disease 0, Muscle ISO RGD:1346340 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease 0, muscle | ClinVar Annotator: match by term: Muscle glycogen synthase deficiency PMID:17182944|PMID:18414213|PMID:25741868|PMID:28492532 9067917 Ftl ferritin light chain gene DOID:9007383 Chemical and Drug Induced Liver Injury ISO RGD:62105 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25231249 9067917 Ftl ferritin light chain gene DOID:9970 obesity ISO RGD:1346340 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:20882379 9067924 Lyzl6 lysozyme like 6 gene DOID:630 genetic disease ISO RGD:1342780 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067959 Arl4d ADP ribosylation factor like GTPase 4D gene DOID:0080600 COVID-19 ISO RGD:1315741 D RGD:9068941 20200618 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9067959 Arl4d ADP ribosylation factor like GTPase 4D gene DOID:5683 hereditary breast ovarian cancer syndrome ISO RGD:1315741 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532 9067959 Arl4d ADP ribosylation factor like GTPase 4D gene DOID:630 genetic disease ISO RGD:1315741 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9067969 Lpin1 lipin 1 gene DOID:11981 morbid obesity ISO RGD:1316957 D RGD:9068941 20200609 RGD PMID:17563064|REF_RGD_ID:1641822 9067969 Lpin1 lipin 1 gene DOID:5419 schizophrenia ISO RGD:1316957 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:21681106|PMID:30208311 9067969 Lpin1 lipin 1 gene DOID:630 genetic disease ISO RGD:1316957 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 9067969 Lpin1 lipin 1 gene DOID:783 end stage renal disease ISO RGD:1307646 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:14718385|REF_RGD_ID:1641826 9067969 Lpin1 lipin 1 gene DOID:811 lipodystrophy ISO RGD:1316958 D RGD:9068941 20220825 MouseDO OMIM:608709 9067969 Lpin1 lipin 1 gene DOID:9005643 Experimental Diabetes Mellitus ISO RGD:1307646 D RGD:9068941 20200609 RGD mRNA:increased expression:skeletal muscle PMID:14718385|REF_RGD_ID:1641826 9067969 Lpin1 lipin 1 gene DOID:9007346 Cachexia ISO RGD:1307646 D RGD:9068941 20200609 RGD associated with Carcinoma, Hepatocellular;mRNA:increased expression:skeletal muscle PMID:14718385|REF_RGD_ID:1641826 9067969 Lpin1 lipin 1 gene DOID:9007692 Insulin Resistance ISO RGD:1316957 D RGD:9068941 20200609 RGD PMID:17563064|REF_RGD_ID:1641822 9067969 Lpin1 lipin 1 gene DOID:9007777 Acute Recurrent Myoglobinuria, Autosomal Recessive ISO RGD:1316957 D RGD:7240710 20180130 OMIM 9067969 Lpin1 lipin 1 gene DOID:9007777 Acute Recurrent Myoglobinuria, Autosomal Recessive ISO RGD:1316957 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive PMID:16199547|PMID:17576681|PMID:18591397|PMID:18817903|PMID:20583302|PMID:22481384|PMID:23928362|PMID:24033266|PMID:25741868|PMID:26111941|PMID:26909335|PMID:28492532|PMID:28986436|PMID:32041611|PMID:32410653|PMID:35242575|PMID:9536098 9068001 Tepsin TEPSIN adaptor related protein complex 4 accessory protein gene DOID:630 genetic disease ISO RGD:1601823 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9068046 Lypd8 LY6/PLAUR domain containing 8 gene DOID:0080418 developmental and epileptic encephalopathy 54 ISO RGD:6771298 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 PMID:25741868 9068054 Smpx small muscle protein X-linked gene DOID:0050566 X-linked nonsyndromic deafness ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: X-linked deafness 9068054 Smpx small muscle protein X-linked gene DOID:0060799 syndromic X-linked intellectual disability Lubs type ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type PMID:25741868 9068054 Smpx small muscle protein X-linked gene DOID:0111735 X-linked deafness 4 ISO RGD:736270 D RGD:7240710 20180130 OMIM 9068054 Smpx small muscle protein X-linked gene DOID:0111735 X-linked deafness 4 ISO RGD:736270 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4 PMID:21549336|PMID:21549342|PMID:22911656|PMID:25741868|PMID:28492532|PMID:8872482 9068054 Smpx small muscle protein X-linked gene DOID:12849 autistic disorder ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 9068054 Smpx small muscle protein X-linked gene DOID:630 genetic disease ISO RGD:736270 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 9068054 Smpx small muscle protein X-linked gene DOID:9003346 Distal Myopathy 7 ISO RGD:736270 D RGD:7240710 20220427 OMIM 9068054 Smpx small muscle protein X-linked gene DOID:9003346 Distal Myopathy 7 ISO RGD:736270 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 7, adult-onset, X-linked PMID:28492532|PMID:33974137 9068054 Smpx small muscle protein X-linked gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9068054 Smpx small muscle protein X-linked gene DOID:9004538 Hearing Loss ISO RGD:736270 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:30311386 9068092 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:0080600 COVID-19 ISO RGD:732471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33617879 9068092 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:14566 disease of cellular proliferation ISO RGD:732471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33617879 9068092 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:417 autoimmune disease ISO RGD:732471 D RGD:9068941 20211112 CTD CTD Direct Evidence: marker/mechanism PMID:33617879 9068092 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:630 genetic disease ISO RGD:732471 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9068092 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:9001573 Experimental Liver Cirrhosis ISO RGD:732471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:25380136 9068092 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:9005765 Autoinflammation with Pulmonary and Cutaneous Vasculitis ISO RGD:732471 D RGD:7240710 20230505 OMIM 9068092 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:9005765 Autoinflammation with Pulmonary and Cutaneous Vasculitis ISO RGD:732471 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis PMID:34536415 9068092 Hck HCK proto-oncogene, Src family tyrosine kinase gene DOID:9952 acute lymphoblastic leukemia ISO RGD:732471 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:17344919 9068109 Pdia5 protein disulfide isomerase family A member 5 gene DOID:0060699 familial hypocalciuric hypercalcemia ISO RGD:1605694 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:28492532 9068109 Pdia5 protein disulfide isomerase family A member 5 gene DOID:0080600 COVID-19 ISO RGD:1605694 D RGD:9068941 20200618 RGD mRNA:increased expression:peripheral blood mononuclear cell (human) PMID:32228226|REF_RGD_ID:28912744 9068109 Pdia5 protein disulfide isomerase family A member 5 gene DOID:630 genetic disease ISO RGD:1605694 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9068109 Pdia5 protein disulfide isomerase family A member 5 gene DOID:9008754 Primary Lymphedema with Myelodysplasia ISO RGD:1605694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia PMID:19449416|PMID:22147895|PMID:25741868 9068109 Pdia5 protein disulfide isomerase family A member 5 gene DOID:9270 alkaptonuria ISO RGD:1605694 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:19862842|PMID:28492532 9068137 Rfesd Rieske Fe-S domain containing gene DOID:0080409 familial adenomatous polyposis 1 ISO RGD:1605818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9068137 Rfesd Rieske Fe-S domain containing gene DOID:630 genetic disease ISO RGD:1605818 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9068137 Rfesd Rieske Fe-S domain containing gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1605818 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9068137 Rfesd Rieske Fe-S domain containing gene DOID:9007071 Hereditary Neoplastic Syndromes ISO RGD:1605818 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532 9068152 Nop2 NOP2 nucleolar protein gene DOID:0060708 lymphoproliferative syndrome 2 ISO RGD:1312158 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 PMID:28492532 9068152 Nop2 NOP2 nucleolar protein gene DOID:0080622 peroxisome biogenesis disorder 2B ISO RGD:1312158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 9068152 Nop2 NOP2 nucleolar protein gene DOID:0111621 Temtamy syndrome ISO RGD:1312158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Temtamy syndrome PMID:28492532 9068152 Nop2 NOP2 nucleolar protein gene DOID:630 genetic disease ISO RGD:1312158 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9068152 Nop2 NOP2 nucleolar protein gene DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 ISO RGD:1312158 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25378588|PMID:29389098 9068179 Btbd16 BTB domain containing 16 gene DOID:10283 prostate cancer ISO RGD:1322924 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9068179 Btbd16 BTB domain containing 16 gene DOID:2340 craniosynostosis ISO RGD:1322924 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:17873121|PMID:28492532|PMID:31754721 9068179 Btbd16 BTB domain containing 16 gene DOID:630 genetic disease ISO RGD:1322924 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9068207 Usp53 ubiquitin specific peptidase 53 gene DOID:0070224 progressive familial intrahepatic cholestasis 4 ISO RGD:1315332 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, (PFIC4-like) PMID:25741868|PMID:28492532|PMID:32124521|PMID:32759993 9068207 Usp53 ubiquitin specific peptidase 53 gene DOID:13580 cholestasis ISO RGD:1315332 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cholestasis PMID:25741868|PMID:28492532|PMID:32124521|PMID:32759993|PMID:34608165 9068207 Usp53 ubiquitin specific peptidase 53 gene DOID:5426 primary ovarian insufficiency ISO RGD:1315332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Premature ovarian insufficiency PMID:25741868 9068207 Usp53 ubiquitin specific peptidase 53 gene DOID:630 genetic disease ISO RGD:1315332 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32124521 9068207 Usp53 ubiquitin specific peptidase 53 gene DOID:9002460 Progressive Familial Intrahepatic Cholestasis 7 ISO RGD:1315332 D RGD:7240710 20211222 OMIM 9068207 Usp53 ubiquitin specific peptidase 53 gene DOID:9002460 Progressive Familial Intrahepatic Cholestasis 7 ISO RGD:1315332 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss PMID:17576681|PMID:25741868|PMID:28492532|PMID:30250217|PMID:32124521|PMID:32759993|PMID:33075013|PMID:34608165|PMID:9536098 9068207 Usp53 ubiquitin specific peptidase 53 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:1315332 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9068228 Bicral BICRA like chromatin remodeling complex associated protein gene DOID:0050444 infantile Refsum disease ISO RGD:1313851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9068228 Bicral BICRA like chromatin remodeling complex associated protein gene DOID:0060041 autism spectrum disorder ISO RGD:1313851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868 9068228 Bicral BICRA like chromatin remodeling complex associated protein gene DOID:10283 prostate cancer ISO RGD:1313851 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Malignant tumor of prostate PMID:23265383 9068228 Bicral BICRA like chromatin remodeling complex associated protein gene DOID:630 genetic disease ISO RGD:1313851 D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9068228 Bicral BICRA like chromatin remodeling complex associated protein gene DOID:905 Zellweger syndrome ISO RGD:1313851 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792 9068248 Nudc nuclear distribution C, dynein complex regulator gene DOID:0110352 retinitis pigmentosa 59 ISO RGD:731477 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 9068248 Nudc nuclear distribution C, dynein complex regulator gene DOID:3883 Lynch syndrome ISO RGD:731477 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:33094510 9068248 Nudc nuclear distribution C, dynein complex regulator gene DOID:3883 Lynch syndrome ISO RGD:731477 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer PMID:11136233|PMID:20233523|PMID:28492532|PMID:33094510 9068248 Nudc nuclear distribution C, dynein complex regulator gene DOID:3883 Lynch syndrome ISO RGD:731477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 9068248 Nudc nuclear distribution C, dynein complex regulator gene DOID:630 genetic disease ISO RGD:731477 D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 9068248 Nudc nuclear distribution C, dynein complex regulator gene DOID:9970 obesity ISO RGD:731477 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:25741868|PMID:28492532|PMID:33094510 9068248 Nudc nuclear distribution C, dynein complex regulator gene DOID:9970 obesity ISO RGD:731477 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: NR0B2-related condition | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, mild, early-onset PMID:11136233|PMID:20233523|PMID:25741868|PMID:28492532|PMID:33094510 9068261 Znf232 zinc finger protein 232 gene DOID:630 genetic disease ISO RGD:1351576 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9068274 Map3k10 mitogen-activated protein kinase kinase kinase 10 gene DOID:0111099 maturity-onset diabetes of the young type 1 ISO RGD:1318115 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 9068274 Map3k10 mitogen-activated protein kinase kinase kinase 10 gene DOID:1339 Diamond-Blackfan anemia ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aase syndrome PMID:28492532 9068274 Map3k10 mitogen-activated protein kinase kinase kinase 10 gene DOID:1342 congenital hypoplastic anemia ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Congenital hypoplastic anemia PMID:28492532 9068274 Map3k10 mitogen-activated protein kinase kinase kinase 10 gene DOID:2340 craniosynostosis ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Craniosynostosis 1 PMID:28492532 9068274 Map3k10 mitogen-activated protein kinase kinase kinase 10 gene DOID:630 genetic disease ISO RGD:1318115 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9068274 Map3k10 mitogen-activated protein kinase kinase kinase 10 gene DOID:9002469 Carpenter Syndrome 2 ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Carpenter syndrome 2 PMID:28492532 9068274 Map3k10 mitogen-activated protein kinase kinase kinase 10 gene DOID:9269 maple syrup urine disease ISO RGD:1318115 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Keto acid decarboxylase deficiency PMID:28492532 9068274 Map3k10 mitogen-activated protein kinase kinase kinase 10 gene DOID:9352 type 2 diabetes mellitus ISO RGD:1318115 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:0050753 cerebellar ataxia ISO RGD:736303 D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:36675067 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:0050871 fibroma ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24658000 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:0080062 autosomal recessive spinocerebellar ataxia 13 ISO RGD:736303 D RGD:7240710 20180130 OMIM 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:0080062 autosomal recessive spinocerebellar ataxia 13 ISO RGD:736303 D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 | ClinVar Annotator: match by term: GRM1-related condition PMID:19146831|PMID:19924463|PMID:22448230|PMID:25741868|PMID:25741889|PMID:26308914|PMID:26467025|PMID:28492532|PMID:31319223 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:0080286 spinocerebellar ataxia 44 ISO RGD:736303 D RGD:7240710 20190315 OMIM 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:0080286 spinocerebellar ataxia 44 ISO RGD:736303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 44 PMID:25741868|PMID:26467025|PMID:28492532|PMID:28886343 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:1094 attention deficit hyperactivity disorder ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:22138692 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:14261 fragile X syndrome ISO RGD:736303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fragile X syndrome 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:1824 status epilepticus ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15058486|PMID:17446080 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:1826 epilepsy ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:19853022 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:2742 D RGD:9068941 20200609 RGD protein:increased expression:forebrain, postsynaptic density PMID:11226670|REF_RGD_ID:5147998 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:3328 temporal lobe epilepsy ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:15694259 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:630 genetic disease ISO RGD:736303 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22448230|PMID:25741868|PMID:26467025|PMID:28492532 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:9002121 Spinocerebellar Ataxias ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:9007603 Bone Tissue Neoplasms ISO RGD:736303 D RGD:9068941 20200609 CTD CTD Direct Evidence: marker/mechanism PMID:24658000 9068289 Grm1 glutamate metabotropic receptor 1 gene DOID:9008086 Developmental Disabilities ISO RGD:736303 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:25741889|PMID:31319223 9068311 Tdrd12 tudor domain containing 12 gene DOID:0110820 hereditary spastic paraplegia 75 ISO RGD:2292096 D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 PMID:28492532 9068311 Tdrd12 tudor domain containing 12 gene DOID:630 genetic disease ISO RGD:2292096 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9068357 Nab1 NGFI-A binding protein 1 gene DOID:0111944 immunodeficiency 31B ISO RGD:736700 D RGD:8554872 20230314 ClinVar ClinVar Annotator: match by term: Immunodeficiency 31B PMID:28492532 9068357 Nab1 NGFI-A binding protein 1 gene DOID:630 genetic disease ISO RGD:736700 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 9068357 Nab1 NGFI-A binding protein 1 gene DOID:9004429 Neurodevelopmental Disorders ISO RGD:736700 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868 9068373 Gpatch11 G-patch domain containing 11 gene DOID:630 genetic disease ISO RGD:1606673 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases